gene	uniprotid	Variant	VariantID	Type	Disease	Chromosome_Coordinate	Evidence
NOSIP	A0A075B6F9	p.Arg3Trp	rs996963376	missense variant	-	NC_000019.10:g.49560685G>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg3Pro	rs1419603246	missense variant	-	NC_000019.10:g.49560684C>G	gnomAD
NOSIP	A0A075B6F9	p.Gly5Asp	rs1408151536	missense variant	-	NC_000019.10:g.49560678C>T	gnomAD
NOSIP	A0A075B6F9	p.Lys6Arg	rs778892261	missense variant	-	NC_000019.10:g.49560675T>C	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Gly11Glu	rs764358157	missense variant	-	NC_000019.10:g.49560660C>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ala12Val	rs373372386	missense variant	-	NC_000019.10:g.49560657G>A	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ala12Thr	rs1449044667	missense variant	-	NC_000019.10:g.49560658C>T	TOPMed
NOSIP	A0A075B6F9	p.Val13Ile	rs777226139	missense variant	-	NC_000019.10:g.49560655C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Val13Phe	rs777226139	missense variant	-	NC_000019.10:g.49560655C>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Thr15Ala	rs1488575532	missense variant	-	NC_000019.10:g.49560649T>C	gnomAD
NOSIP	A0A075B6F9	p.Tyr16Ter	rs369863958	stop gained	-	NC_000019.10:g.49560644G>C	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.His17Arg	rs1221790458	missense variant	-	NC_000019.10:g.49560642T>C	TOPMed
NOSIP	A0A075B6F9	p.Glu18Lys	rs1343160133	missense variant	-	NC_000019.10:g.49560640C>T	gnomAD
NOSIP	A0A075B6F9	p.Lys21Asn	rs1224319623	missense variant	-	NC_000019.10:g.49560629C>A	gnomAD
NOSIP	A0A075B6F9	p.Lys21Asn	rs1224319623	missense variant	-	NC_000019.10:g.49560629C>G	gnomAD
NOSIP	A0A075B6F9	p.Lys21Glu	rs762823521	missense variant	-	NC_000019.10:g.49560631T>C	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ala24Val	rs762843467	missense variant	-	NC_000019.10:g.49560039G>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ile33Val	rs1009398687	missense variant	-	NC_000019.10:g.49560013T>C	TOPMed
NOSIP	A0A075B6F9	p.Arg34Gln	rs1227176476	missense variant	-	NC_000019.10:g.49560009C>T	gnomAD
NOSIP	A0A075B6F9	p.Arg34Ter	rs1275538743	stop gained	-	NC_000019.10:g.49560010G>A	gnomAD
NOSIP	A0A075B6F9	p.Ser36Asn	rs1315160192	missense variant	-	NC_000019.10:g.49560003C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp38Asn	rs1432497287	missense variant	-	NC_000019.10:g.49559998C>T	TOPMed
NOSIP	A0A075B6F9	p.Val40Met	rs768366062	missense variant	-	NC_000019.10:g.49559992C>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Phe43Leu	rs760425715	missense variant	-	NC_000019.10:g.49559981G>C	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp44Asn	rs775323843	missense variant	-	NC_000019.10:g.49559980C>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp44Ala	rs1446453191	missense variant	-	NC_000019.10:g.49559979T>G	TOPMed
NOSIP	A0A075B6F9	p.Asp44His	rs775323843	missense variant	-	NC_000019.10:g.49559980C>G	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ser49Thr	rs1162427500	missense variant	-	NC_000019.10:g.49559965A>T	gnomAD
NOSIP	A0A075B6F9	p.His54Tyr	rs1385722912	missense variant	-	NC_000019.10:g.49559950G>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.His54Asp	rs1385722912	missense variant	-	NC_000019.10:g.49559950G>C	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp55Asn	rs779285289	missense variant	-	NC_000019.10:g.49559947C>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Val57Leu	rs1233180989	missense variant	-	NC_000019.10:g.49559941C>G	gnomAD
NOSIP	A0A075B6F9	p.Val58Leu	rs1001952426	missense variant	-	NC_000019.10:g.49559938C>G	TOPMed
NOSIP	A0A075B6F9	p.Thr59Ile	rs370833946	missense variant	-	NC_000019.10:g.49559934G>A	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Thr59Ser	rs370833946	missense variant	-	NC_000019.10:g.49559934G>C	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Pro60Leu	rs1427534182	missense variant	-	NC_000019.10:g.49558976G>A	gnomAD
NOSIP	A0A075B6F9	p.Pro60Ser	rs1347003747	missense variant	-	NC_000019.10:g.49558977G>A	gnomAD
NOSIP	A0A075B6F9	p.Tyr63Cys	rs753806135	missense variant	-	NC_000019.10:g.49558967T>C	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Leu64Gln	rs1377499726	missense variant	-	NC_000019.10:g.49558964A>T	TOPMed
NOSIP	A0A075B6F9	p.Tyr65Cys	rs1462936981	missense variant	-	NC_000019.10:g.49558961T>C	TOPMed
NOSIP	A0A075B6F9	p.Arg67His	rs938456550	missense variant	-	NC_000019.10:g.49558955C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg67Leu	rs938456550	missense variant	-	NC_000019.10:g.49558955C>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg67Cys	rs764184868	missense variant	-	NC_000019.10:g.49558956G>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ile70Val	rs1477134927	missense variant	-	NC_000019.10:g.49558947T>C	gnomAD
NOSIP	A0A075B6F9	p.His76Tyr	rs755682821	missense variant	-	NC_000019.10:g.49558929G>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Lys79Glu	rs752257192	missense variant	-	NC_000019.10:g.49558920T>C	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Lys79Arg	rs1253729061	missense variant	-	NC_000019.10:g.49558919T>C	gnomAD
NOSIP	A0A075B6F9	p.Lys79Asn	rs1372396852	missense variant	-	NC_000019.10:g.49558918C>G	gnomAD
NOSIP	A0A075B6F9	p.Glu80Ala	rs767023635	missense variant	-	NC_000019.10:g.49558916T>G	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ile81Leu	rs759258487	missense variant	-	NC_000019.10:g.49558914T>G	ExAC
NOSIP	A0A075B6F9	p.Ala82Val	rs1216519575	missense variant	-	NC_000019.10:g.49558910G>A	gnomAD
NOSIP	A0A075B6F9	p.Arg83Gln	rs766703222	missense variant	-	NC_000019.10:g.49558907C>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg83Trp	rs370070206	missense variant	-	NC_000019.10:g.49558908G>A	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ala87Val	rs1463992892	missense variant	-	NC_000019.10:g.49557248G>A	gnomAD
NOSIP	A0A075B6F9	p.Tyr88Cys	rs1367188779	missense variant	-	NC_000019.10:g.49557245T>C	gnomAD
NOSIP	A0A075B6F9	p.Glu89Lys	rs1444763551	missense variant	-	NC_000019.10:g.49557243C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Glu89Ter	rs1444763551	stop gained	-	NC_000019.10:g.49557243C>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Lys90Gln	rs754491390	missense variant	-	NC_000019.10:g.49557240T>G	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg92Gln	rs1436855961	missense variant	-	NC_000019.10:g.49557233C>T	gnomAD
NOSIP	A0A075B6F9	p.Arg92Trp	rs1176453226	missense variant	-	NC_000019.10:g.49557234G>A	gnomAD
NOSIP	A0A075B6F9	p.Gly93Arg	rs1309230211	missense variant	-	NC_000019.10:g.49557231C>G	TOPMed
NOSIP	A0A075B6F9	p.Thr94Ile	rs1250973102	missense variant	-	NC_000019.10:g.49557227G>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg95Pro	rs1487476518	missense variant	-	NC_000019.10:g.49557224C>G	gnomAD
NOSIP	A0A075B6F9	p.Arg95Gly	rs200238455	missense variant	-	NC_000019.10:g.49557225G>C	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg95Trp	rs200238455	missense variant	-	NC_000019.10:g.49557225G>A	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg96Cys	rs1325369637	missense variant	-	NC_000019.10:g.49557222G>A	TOPMed
NOSIP	A0A075B6F9	p.Glu97Lys	rs151017072	missense variant	-	NC_000019.10:g.49557219C>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Glu97Gln	rs151017072	missense variant	-	NC_000019.10:g.49557219C>G	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Gln99His	rs762403392	missense variant	-	NC_000019.10:g.49557211C>A	ExAC,TOPMed
NOSIP	A0A075B6F9	p.Gln99His	rs762403392	missense variant	-	NC_000019.10:g.49557211C>G	ExAC,TOPMed
NOSIP	A0A075B6F9	p.Lys100Asn	rs768749037	missense variant	-	NC_000019.10:g.49557208C>G	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Lys100Glu	rs776532299	missense variant	-	NC_000019.10:g.49557210T>C	ExAC,TOPMed
NOSIP	A0A075B6F9	p.Ala105Val	rs1011408552	missense variant	-	NC_000019.10:g.49557194G>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ala105Gly	rs1011408552	missense variant	-	NC_000019.10:g.49557194G>C	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ser107Leu	rs199804285	missense variant	-	NC_000019.10:g.49557188G>A	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Gln108Ter	rs1303135812	stop gained	-	NC_000019.10:g.49557186G>A	gnomAD
NOSIP	A0A075B6F9	p.His110Arg	rs1386623628	missense variant	-	NC_000019.10:g.49557179T>C	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.His110Tyr	rs138001141	missense variant	-	NC_000019.10:g.49557180G>A	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg112Trp	rs769816516	missense variant	-	NC_000019.10:g.49557174G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg112Gln	rs1469318896	missense variant	-	NC_000019.10:g.49557173C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Gly113Val	rs1186539310	missense variant	-	NC_000019.10:g.49557170C>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Gly113Asp	rs1186539310	missense variant	-	NC_000019.10:g.49557170C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Lys117Thr	rs751092563	missense variant	-	NC_000019.10:g.49557158T>G	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Lys117Arg	rs751092563	missense variant	-	NC_000019.10:g.49557158T>C	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ser119Thr	rs779613179	missense variant	-	NC_000019.10:g.49557153A>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ser119Ter	rs758056354	stop gained	-	NC_000019.10:g.49557152G>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ile121Val	rs754347770	missense variant	-	NC_000019.10:g.49557147T>C	ExAC,TOPMed
NOSIP	A0A075B6F9	p.Ile121Phe	rs754347770	missense variant	-	NC_000019.10:g.49557147T>A	ExAC,TOPMed
NOSIP	A0A075B6F9	p.Val122Met	rs201976944	missense variant	-	NC_000019.10:g.49557144C>T	1000Genomes,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Val122Leu	rs201976944	missense variant	-	NC_000019.10:g.49557144C>A	1000Genomes,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Val122Leu	rs201976944	missense variant	-	NC_000019.10:g.49557144C>G	1000Genomes,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ser123Asn	rs1350273519	missense variant	-	NC_000019.10:g.49557140C>T	gnomAD
NOSIP	A0A075B6F9	p.Arg124Gln	rs772372595	missense variant	-	NC_000019.10:g.49557137C>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg124Trp	rs775726917	missense variant	-	NC_000019.10:g.49557138G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Leu126Phe	rs375469093	missense variant	-	NC_000019.10:g.49557132G>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Leu126Ile	rs375469093	missense variant	-	NC_000019.10:g.49557132G>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asn127Lys	rs769613583	missense variant	-	NC_000019.10:g.49557127G>C	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Pro128Thr	rs1406091463	missense variant	-	NC_000019.10:g.49557126G>T	gnomAD
NOSIP	A0A075B6F9	p.Pro128His	rs944633904	missense variant	-	NC_000019.10:g.49557125G>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Thr130Ile	rs747954571	missense variant	-	NC_000019.10:g.49557119G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ala131Thr	rs1399569740	missense variant	-	NC_000019.10:g.49557117C>T	gnomAD
NOSIP	A0A075B6F9	p.Lys132Glu	rs1259184349	missense variant	-	NC_000019.10:g.49557114T>C	gnomAD
NOSIP	A0A075B6F9	p.Leu134Phe	rs919275543	missense variant	-	NC_000019.10:g.49557108G>A	TOPMed
NOSIP	A0A075B6F9	p.Ser135Leu	rs768477864	missense variant	-	NC_000019.10:g.49557104G>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Thr137Ile	rs1481391496	missense variant	-	NC_000019.10:g.49557098G>A	gnomAD
NOSIP	A0A075B6F9	p.Thr137Ala	rs1199807755	missense variant	-	NC_000019.10:g.49557099T>C	gnomAD
NOSIP	A0A075B6F9	p.Gly140Asp	rs376597835	missense variant	-	NC_000019.10:g.49557089C>T	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp141Glu	rs578168985	missense variant	-	NC_000019.10:g.49557085G>C	1000Genomes,ExAC,gnomAD
NOSIP	A0A075B6F9	p.Asp141Asn	rs1285034160	missense variant	-	NC_000019.10:g.49557087C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ser142Leu	rs1321589931	missense variant	-	NC_000019.10:g.49557083G>A	gnomAD
NOSIP	A0A075B6F9	p.Asp143Gly	rs753236913	missense variant	-	NC_000019.10:g.49556993T>C	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp143Ala	rs753236913	missense variant	-	NC_000019.10:g.49556993T>G	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp143Val	rs753236913	missense variant	-	NC_000019.10:g.49556993T>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp144His	rs768200508	missense variant	-	NC_000019.10:g.49556991C>G	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Val145Ile	rs755108331	missense variant	-	NC_000019.10:g.49556988C>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Gln146His	rs751690144	missense variant	-	NC_000019.10:g.49556983T>G	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Gln146Arg	rs1415409021	missense variant	-	NC_000019.10:g.49556984T>C	gnomAD
NOSIP	A0A075B6F9	p.Pro147Thr	rs1175119319	missense variant	-	NC_000019.10:g.49556982G>T	gnomAD
NOSIP	A0A075B6F9	p.Gly152Val	rs1170597053	missense variant	-	NC_000019.10:g.49556966C>A	gnomAD
NOSIP	A0A075B6F9	p.Gly152Cys	rs766561412	missense variant	-	NC_000019.10:g.49556967C>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Pro154Ser	rs763103809	missense variant	-	NC_000019.10:g.49556961G>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ser155Asn	rs763763680	missense variant	-	NC_000019.10:g.49556957C>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp157Gly	rs1484357222	missense variant	-	NC_000019.10:g.49556951T>C	gnomAD
NOSIP	A0A075B6F9	p.Asp157Glu	rs1231543334	missense variant	-	NC_000019.10:g.49556950G>T	gnomAD
NOSIP	A0A075B6F9	p.Lys158Asn	rs368503120	missense variant	-	NC_000019.10:g.49556947C>A	ESP,ExAC,gnomAD
NOSIP	A0A075B6F9	p.Val161Met	rs555883614	missense variant	-	NC_000019.10:g.49556940C>T	1000Genomes,ExAC,gnomAD
NOSIP	A0A075B6F9	p.Leu162Met	rs1275773136	missense variant	-	NC_000019.10:g.49556937G>T	gnomAD
NOSIP	A0A075B6F9	p.Pro163Leu	rs990830867	missense variant	-	NC_000019.10:g.49556933G>A	TOPMed
NOSIP	A0A075B6F9	p.Pro168Leu	rs758989830	missense variant	-	NC_000019.10:g.49556918G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Thr171Met	rs17850728	missense variant	-	NC_000019.10:g.49556909G>A	-
NOSIP	A0A075B6F9	p.Glu173Lys	rs1442609579	missense variant	-	NC_000019.10:g.49556904C>T	gnomAD
NOSIP	A0A075B6F9	p.Lys175Arg	rs1356027900	missense variant	-	NC_000019.10:g.49556897T>C	gnomAD
NOSIP	A0A075B6F9	p.Lys178Arg	rs957992254	missense variant	-	NC_000019.10:g.49556888T>C	TOPMed
NOSIP	A0A075B6F9	p.Pro182Thr	rs1423911495	missense variant	-	NC_000019.10:g.49556877G>T	gnomAD
NOSIP	A0A075B6F9	p.Arg184Leu	rs770327606	missense variant	-	NC_000019.10:g.49556732C>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg184Cys	rs1360034901	missense variant	-	NC_000019.10:g.49556733G>A	gnomAD
NOSIP	A0A075B6F9	p.Thr185Met	rs376400410	missense variant	-	NC_000019.10:g.49556729G>A	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Thr187Ile	rs769578558	missense variant	-	NC_000019.10:g.49556723G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Pro189Leu	rs748461813	missense variant	-	NC_000019.10:g.49556717G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Met190Ile	rs1427254646	missense variant	-	NC_000019.10:g.49556713C>T	gnomAD
NOSIP	A0A075B6F9	p.Met190Thr	rs141077974	missense variant	-	NC_000019.10:g.49556714A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Gly192Arg	rs1260438688	missense variant	-	NC_000019.10:g.49556709C>G	gnomAD
NOSIP	A0A075B6F9	p.Lys193Glu	rs1490492312	missense variant	-	NC_000019.10:g.49556706T>C	TOPMed
NOSIP	A0A075B6F9	p.Pro194Leu	rs769242681	missense variant	-	NC_000019.10:g.49556702G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg196Cys	rs1324072664	missense variant	-	NC_000019.10:g.49556697G>A	gnomAD
NOSIP	A0A075B6F9	p.Met197Ile	rs1225154501	missense variant	-	NC_000019.10:g.49556692C>T	gnomAD
NOSIP	A0A075B6F9	p.Met197Leu	rs924569928	missense variant	-	NC_000019.10:g.49556694T>G	gnomAD
NOSIP	A0A075B6F9	p.Ser198Leu	rs747441040	missense variant	-	NC_000019.10:g.49556690G>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ser198Trp	rs747441040	missense variant	-	NC_000019.10:g.49556690G>C	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Pro202Ser	rs1452177977	missense variant	-	NC_000019.10:g.49556679G>A	gnomAD
NOSIP	A0A075B6F9	p.Val203Leu	rs757747143	missense variant	-	NC_000019.10:g.49556676C>G	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Pro207Leu	rs865863056	missense variant	-	NC_000019.10:g.49556663G>A	TOPMed
NOSIP	A0A075B6F9	p.Pro207Ala	rs528844653	missense variant	-	NC_000019.10:g.49556664G>C	1000Genomes
NOSIP	A0A075B6F9	p.Asp209Glu	rs991270581	missense variant	-	NC_000019.10:g.49556656G>C	gnomAD
NOSIP	A0A075B6F9	p.Ser210Thr	rs1365701396	missense variant	-	NC_000019.10:g.49556654C>G	TOPMed
NOSIP	A0A075B6F9	p.Arg214Cys	rs1450844850	missense variant	-	NC_000019.10:g.49556643G>A	gnomAD
NOSIP	A0A075B6F9	p.Leu217Phe	rs757493593	missense variant	-	NC_000019.10:g.49556634G>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Thr219Asn	rs752451382	missense variant	-	NC_000019.10:g.49556627G>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Thr219Ile	rs752451382	missense variant	-	NC_000019.10:g.49556627G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg220Gly	rs767271460	missense variant	-	NC_000019.10:g.49556625G>C	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg220Cys	rs767271460	missense variant	-	NC_000019.10:g.49556625G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ser221Cys	rs1343983191	missense variant	-	NC_000019.10:g.49556622T>A	TOPMed
NOSIP	A0A075B6F9	p.Glu222Gln	rs759426411	missense variant	-	NC_000019.10:g.49556619C>G	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Tyr224Ter	rs958721605	stop gained	-	NC_000019.10:g.49556611G>C	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Val225Met	rs751441811	missense variant	-	NC_000019.10:g.49556610C>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Cys226Ser	rs1207189854	missense variant	-	NC_000019.10:g.49556607A>T	gnomAD
NOSIP	A0A075B6F9	p.Val228Met	rs772788289	missense variant	-	NC_000019.10:g.49556601C>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Thr229Asn	rs764930641	missense variant	-	NC_000019.10:g.49556597G>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg230His	rs369839191	missense variant	-	NC_000019.10:g.49556594C>T	ESP,ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg230Cys	rs1341234051	missense variant	-	NC_000019.10:g.49556595G>A	gnomAD
NOSIP	A0A075B6F9	p.Asp231His	rs747462873	missense variant	-	NC_000019.10:g.49556592C>G	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Asp231Asn	rs747462873	missense variant	-	NC_000019.10:g.49556592C>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ser232Asn	rs775855155	missense variant	-	NC_000019.10:g.49556588C>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ser234Arg	rs966801837	missense variant	-	NC_000019.10:g.49556581G>T	TOPMed
NOSIP	A0A075B6F9	p.Asn235Ser	rs772637224	missense variant	-	NC_000019.10:g.49556579T>C	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Pro238Arg	rs749491556	missense variant	-	NC_000019.10:g.49556570G>C	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Pro238Ala	rs757369043	missense variant	-	NC_000019.10:g.49556571G>C	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ala240Thr	rs1008745775	missense variant	-	NC_000019.10:g.49556565C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg243Leu	rs781518095	missense variant	-	NC_000019.10:g.49556555C>A	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg243Gln	rs781518095	missense variant	-	NC_000019.10:g.49556555C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Pro244Thr	rs754728597	missense variant	-	NC_000019.10:g.49556553G>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Gly246Glu	rs1435309155	missense variant	-	NC_000019.10:g.49556423C>T	gnomAD
NOSIP	A0A075B6F9	p.Ala247Thr	rs1478929902	missense variant	-	NC_000019.10:g.49556421C>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Val249Leu	rs750366685	missense variant	-	NC_000019.10:g.49556415C>G	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Leu251Phe	rs779054554	missense variant	-	NC_000019.10:g.49556409G>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Glu252Asp	rs756824747	missense variant	-	NC_000019.10:g.49556404T>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Cys253Arg	rs1210802336	missense variant	-	NC_000019.10:g.49556403A>G	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Val254Ala	rs1417952554	missense variant	-	NC_000019.10:g.49556399A>G	gnomAD
NOSIP	A0A075B6F9	p.Val254Met	rs760406810	missense variant	-	NC_000019.10:g.49556400C>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Val254Leu	rs760406810	missense variant	-	NC_000019.10:g.49556400C>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Glu255Asp	rs142202252	missense variant	-	NC_000019.10:g.49556395C>G	ESP,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg259Trp	rs1462374780	missense variant	-	NC_000019.10:g.49556385G>A	TOPMed
NOSIP	A0A075B6F9	p.Asp261Ala	rs1347687821	missense variant	-	NC_000019.10:g.49556378T>G	gnomAD
NOSIP	A0A075B6F9	p.Asp261Asn	rs1201431638	missense variant	-	NC_000019.10:g.49556379C>T	TOPMed
NOSIP	A0A075B6F9	p.Met262Val	rs1478182768	missense variant	-	NC_000019.10:g.49556376T>C	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp264Glu	rs1226008214	missense variant	-	NC_000019.10:g.49556368G>T	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp264Asn	rs767900611	missense variant	-	NC_000019.10:g.49556370C>T	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Val266Gly	rs1365252524	missense variant	-	NC_000019.10:g.49556363A>C	TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Asp269Asn	rs537534103	missense variant	-	NC_000019.10:g.49556355C>T	1000Genomes,ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Lys270Glu	rs1450006020	missense variant	-	NC_000019.10:g.49556352T>C	gnomAD
NOSIP	A0A075B6F9	p.Leu271Ile	rs774833205	missense variant	-	NC_000019.10:g.49556349G>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Thr272Lys	rs1158879379	missense variant	-	NC_000019.10:g.49556345G>T	TOPMed
NOSIP	A0A075B6F9	p.Arg274Cys	rs762959254	missense variant	-	NC_000019.10:g.49556340G>A	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Arg274Leu	rs773298711	missense variant	-	NC_000019.10:g.49556339C>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ile276Val	rs769870703	missense variant	-	NC_000019.10:g.49556334T>C	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ile277Val	rs748374339	missense variant	-	NC_000019.10:g.49556331T>C	ExAC,TOPMed,gnomAD
NOSIP	A0A075B6F9	p.Ile277Thr	rs1334993781	missense variant	-	NC_000019.10:g.49556330A>G	TOPMed
NOSIP	A0A075B6F9	p.Gln280Arg	rs1442939703	missense variant	-	NC_000019.10:g.49556321T>C	gnomAD
NOSIP	A0A075B6F9	p.Arg281Trp	rs1237282977	missense variant	-	NC_000019.10:g.49556319G>A	gnomAD
NOSIP	A0A075B6F9	p.Arg281Gln	rs1211204224	missense variant	-	NC_000019.10:g.49556318C>T	gnomAD
NOSIP	A0A075B6F9	p.Thr284Ala	rs764364369	missense variant	-	NC_000019.10:g.49555816T>C	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ala287Val	rs1228739217	missense variant	-	NC_000019.10:g.49555806G>A	gnomAD
NOSIP	A0A075B6F9	p.Ala287Ser	rs770835468	missense variant	-	NC_000019.10:g.49555807C>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Gly290Arg	rs769628946	missense variant	-	NC_000019.10:g.49555798C>T	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Ala295Val	rs780594414	missense variant	-	NC_000019.10:g.49555782G>A	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Arg299Pro	rs746645712	missense variant	-	NC_000019.10:g.49555770C>G	ExAC,gnomAD
NOSIP	A0A075B6F9	p.Pro300Gln	rs1343613784	missense variant	-	NC_000019.10:g.49555767G>T	gnomAD
NOSIP	A0A075B6F9	p.Ala304Thr	rs765719587	missense variant	-	NC_000019.10:g.49555756C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asp3His	rs1342682020	missense variant	-	NC_000011.10:g.6604278G>C	gnomAD
ILK	A0A0A0MTH3	p.Ile4Val	rs775806437	missense variant	-	NC_000011.10:g.6604281A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Phe5Ile	rs768835412	missense variant	-	NC_000011.10:g.6604284T>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg9Gln	rs777208312	missense variant	-	NC_000011.10:g.6604297G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Glu10Lys	rs1257739609	missense variant	-	NC_000011.10:g.6604299G>A	gnomAD
ILK	A0A0A0MTH3	p.Gly11Ser	rs1484835654	missense variant	-	NC_000011.10:g.6604302G>A	gnomAD
ILK	A0A0A0MTH3	p.Asn12Ser	rs765978022	missense variant	-	NC_000011.10:g.6604306A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Val14Ile	rs1196783653	missense variant	-	NC_000011.10:g.6604311G>A	gnomAD
ILK	A0A0A0MTH3	p.Ala15Ser	rs759232977	missense variant	-	NC_000011.10:g.6604314G>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ala15Thr	rs759232977	missense variant	-	NC_000011.10:g.6604314G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val16Phe	rs1433310238	missense variant	-	NC_000011.10:g.6604317G>T	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg17Cys	rs1177562092	missense variant	-	NC_000011.10:g.6604320C>T	gnomAD
ILK	A0A0A0MTH3	p.Trp19Arg	rs767175625	missense variant	-	NC_000011.10:g.6604326T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asp21His	rs1362776450	missense variant	-	NC_000011.10:g.6604332G>C	gnomAD
ILK	A0A0A0MTH3	p.Asp21Gly	rs752302392	missense variant	-	NC_000011.10:g.6604333A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asn22Ser	rs114115159	missense variant	-	NC_000011.10:g.6604336A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Thr23Met	rs1221055442	missense variant	-	NC_000011.10:g.6604339C>T	gnomAD
ILK	A0A0A0MTH3	p.Asn25Asp	rs763787925	missense variant	-	NC_000011.10:g.6604344A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asn25Lys	rs938593629	missense variant	-	NC_000011.10:g.6604346C>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Asn28Ser	rs1489118962	missense variant	-	NC_000011.10:g.6604354A>G	gnomAD
ILK	A0A0A0MTH3	p.Asp32Asn	rs376074648	missense variant	-	NC_000011.10:g.6608050G>A	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ser36Phe	rs200679312	missense variant	-	NC_000011.10:g.6608063C>T	1000Genomes,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ala41Val	rs760427367	missense variant	-	NC_000011.10:g.6608078C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ala41Pro	rs774834539	missense variant	-	NC_000011.10:g.6608077G>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg43Gln	rs768217957	missense variant	-	NC_000011.10:g.6608084G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg43Ter	rs1427320498	stop gained	-	NC_000011.10:g.6608083C>T	gnomAD
ILK	A0A0A0MTH3	p.Glu44Gln	rs145039481	missense variant	-	NC_000011.10:g.6608086G>C	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg46Cys	rs976603626	missense variant	-	NC_000011.10:g.6608092C>T	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg46Pro	rs370736279	missense variant	-	NC_000011.10:g.6608093G>C	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg46His	rs370736279	missense variant	-	NC_000011.10:g.6608093G>A	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ser47Cys	rs1359613816	missense variant	-	NC_000011.10:g.6608096C>G	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ser47Tyr	rs1359613816	missense variant	-	NC_000011.10:g.6608096C>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val49Ala	rs201499797	missense variant	-	NC_000011.10:g.6608102T>C	1000Genomes,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Val50Ala	rs1299706614	missense variant	-	NC_000011.10:g.6608105T>C	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Glu51Gln	rs762978553	missense variant	-	NC_000011.10:g.6608107G>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Met52Val	rs529751196	missense variant	-	NC_000011.10:g.6608110A>G	1000Genomes,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Met52Thr	rs1347766100	missense variant	-	NC_000011.10:g.6608111T>C	gnomAD
ILK	A0A0A0MTH3	p.Leu53Met	rs200336608	missense variant	-	NC_000011.10:g.6608113T>A	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Met55Val	rs781296730	missense variant	-	NC_000011.10:g.6608119A>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Met55Thr	rs752892842	missense variant	-	NC_000011.10:g.6608120T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Met55Leu	rs781296730	missense variant	-	NC_000011.10:g.6608119A>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg56Pro	rs141701406	missense variant	-	NC_000011.10:g.6608123G>C	ESP,TOPMed
ILK	A0A0A0MTH3	p.Arg56Trp	rs756532224	missense variant	-	NC_000011.10:g.6608122C>T	ExAC,TOPMed
ILK	A0A0A0MTH3	p.Arg56Gln	rs141701406	missense variant	-	NC_000011.10:g.6608123G>A	ESP,TOPMed
ILK	A0A0A0MTH3	p.Gly57Glu	rs1451247994	missense variant	-	NC_000011.10:g.6608126G>A	gnomAD
ILK	A0A0A0MTH3	p.Gly57Arg	rs778110752	missense variant	-	NC_000011.10:g.6608125G>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ala58Thr	rs1379386108	missense variant	-	NC_000011.10:g.6608128G>A	gnomAD
ILK	A0A0A0MTH3	p.Ala58Val	rs771408198	missense variant	-	NC_000011.10:g.6608129C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg59Trp	rs779428507	missense variant	-	NC_000011.10:g.6608131C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asn61Asp	rs1202745271	missense variant	-	NC_000011.10:g.6608137A>G	TOPMed
ILK	A0A0A0MTH3	p.Val62Ile	rs768146142	missense variant	-	NC_000011.10:g.6608140G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg65Leu	rs761544290	missense variant	-	NC_000011.10:g.6608150G>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg65Cys	rs776161614	missense variant	-	NC_000011.10:g.6608149C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Gly66Arg	rs769777691	missense variant	-	NC_000011.10:g.6608152G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Thr69Ile	rs763031937	missense variant	-	NC_000011.10:g.6608162C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Thr69Ser	rs773109315	missense variant	-	NC_000011.10:g.6608161A>T	ExAC,TOPMed
ILK	A0A0A0MTH3	p.Thr69Ser	rs763031937	missense variant	-	NC_000011.10:g.6608162C>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro70Leu	rs1306619165	missense variant	-	NC_000011.10:g.6608165C>T	TOPMed
ILK	A0A0A0MTH3	p.Leu71Pro	rs940177401	missense variant	-	NC_000011.10:g.6608168T>C	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ser76Arg	rs759535056	missense variant	-	NC_000011.10:g.6608184T>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ser76Gly	rs1355016857	missense variant	-	NC_000011.10:g.6608182A>G	gnomAD
ILK	A0A0A0MTH3	p.His77Tyr	rs750788075	missense variant	-	NC_000011.10:g.6608185C>T	gnomAD
ILK	A0A0A0MTH3	p.His77Arg	rs760982982	missense variant	-	NC_000011.10:g.6608186A>G	gnomAD
ILK	A0A0A0MTH3	p.Arg80His	rs752932911	missense variant	-	NC_000011.10:g.6608195G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Leu87Ser	rs1317956065	missense variant	-	NC_000011.10:g.6608398T>C	TOPMed
ILK	A0A0A0MTH3	p.Gln88His	rs1208088812	missense variant	-	NC_000011.10:g.6608402G>C	gnomAD
ILK	A0A0A0MTH3	p.Tyr89Ser	rs1254222245	missense variant	-	NC_000011.10:g.6608404A>C	gnomAD
ILK	A0A0A0MTH3	p.Asp92Asn	rs755641968	missense variant	-	NC_000011.10:g.6608412G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ile93Val	rs777569798	missense variant	-	NC_000011.10:g.6608415A>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val96Met	rs1297687558	missense variant	-	NC_000011.10:g.6608424G>A	gnomAD
ILK	A0A0A0MTH3	p.His99Tyr	rs1429815250	missense variant	-	NC_000011.10:g.6608433C>T	gnomAD
ILK	A0A0A0MTH3	p.His99Pro	rs1173338186	missense variant	-	NC_000011.10:g.6608434A>C	gnomAD
ILK	A0A0A0MTH3	p.Gly100Arg	rs745845608	missense variant	-	NC_000011.10:g.6608436G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.His105Asn	rs772071519	missense variant	-	NC_000011.10:g.6608451C>A	ExAC
ILK	A0A0A0MTH3	p.Trp110Ter	rs760749828	stop gained	-	NC_000011.10:g.6608468G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Trp110Gly	rs775369494	missense variant	-	NC_000011.10:g.6608466T>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Asp113Tyr	rs764104201	missense variant	-	NC_000011.10:g.6608475G>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ala116Val	rs1190579004	missense variant	-	NC_000011.10:g.6608485C>T	TOPMed
ILK	A0A0A0MTH3	p.Asn122Tyr	rs1368347084	missense variant	-	NC_000011.10:g.6608706A>T	gnomAD
ILK	A0A0A0MTH3	p.Ala124Thr	rs745709169	missense variant	-	NC_000011.10:g.6608712G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ala124Ser	rs745709169	missense variant	-	NC_000011.10:g.6608712G>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Leu125Val	rs1305586718	missense variant	-	NC_000011.10:g.6608715C>G	gnomAD
ILK	A0A0A0MTH3	p.Leu125Pro	rs1351412742	missense variant	-	NC_000011.10:g.6608716T>C	gnomAD
ILK	A0A0A0MTH3	p.Val126Ala	rs779981802	missense variant	-	NC_000011.10:g.6608719T>C	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val126Phe	rs200151088	missense variant	-	NC_000011.10:g.6608718G>T	1000Genomes,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Cys129Ser	rs1332744590	missense variant	-	NC_000011.10:g.6608728G>C	TOPMed
ILK	A0A0A0MTH3	p.Cys129Tyr	rs1332744590	missense variant	-	NC_000011.10:g.6608728G>A	TOPMed
ILK	A0A0A0MTH3	p.Lys131Asn	rs1408959161	missense variant	-	NC_000011.10:g.6608735G>C	TOPMed
ILK	A0A0A0MTH3	p.Tyr132Asp	rs768791411	missense variant	-	NC_000011.10:g.6608736T>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Tyr132Cys	rs776660725	missense variant	-	NC_000011.10:g.6608737A>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Gly133Ala	rs770076288	missense variant	-	NC_000011.10:g.6608740G>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Gly133Arg	rs761991240	missense variant	-	NC_000011.10:g.6608739G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Glu134Asp	rs1439612462	missense variant	-	NC_000011.10:g.6608744G>C	gnomAD
ILK	A0A0A0MTH3	p.Glu134Asp	rs1439612462	missense variant	-	NC_000011.10:g.6608744G>T	gnomAD
ILK	A0A0A0MTH3	p.Val137Ala	rs773265619	missense variant	-	NC_000011.10:g.6608752T>C	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Lys141Arg	rs187795252	missense variant	-	NC_000011.10:g.6608764A>G	1000Genomes,ExAC
ILK	A0A0A0MTH3	p.Pro143Thr	rs200920329	missense variant	-	NC_000011.10:g.6608769C>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro143Leu	rs201763536	missense variant	-	NC_000011.10:g.6608770C>T	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg145Ser	rs139640491	missense variant	-	NC_000011.10:g.6608777A>C	1000Genomes,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Leu147Phe	rs753415741	missense variant	-	NC_000011.10:g.6608781C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Leu147Pro	rs756684423	missense variant	-	NC_000011.10:g.6608782T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg149Ter	rs1279951909	stop gained	-	NC_000011.10:g.6608787C>T	gnomAD
ILK	A0A0A0MTH3	p.Arg149Gln	rs869025437	missense variant	-	NC_000011.10:g.6608788G>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro151Leu	rs1226374130	missense variant	-	NC_000011.10:g.6608794C>T	gnomAD
ILK	A0A0A0MTH3	p.Pro153Ser	rs1206861965	missense variant	-	NC_000011.10:g.6608799C>T	TOPMed
ILK	A0A0A0MTH3	p.Pro155Ser	rs1438046207	missense variant	-	NC_000011.10:g.6608805C>T	TOPMed
ILK	A0A0A0MTH3	p.Pro155Leu	rs574384765	missense variant	-	NC_000011.10:g.6608806C>T	1000Genomes,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ala157Val	rs543104710	missense variant	-	NC_000011.10:g.6608812C>T	1000Genomes
ILK	A0A0A0MTH3	p.Cys158Tyr	rs749988061	missense variant	-	NC_000011.10:g.6608815G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Cys158Phe	rs749988061	missense variant	-	NC_000011.10:g.6608815G>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Leu160Pro	rs1198205599	missense variant	-	NC_000011.10:g.6608821T>C	TOPMed
ILK	A0A0A0MTH3	p.Ser161Leu	rs1457715366	missense variant	-	NC_000011.10:g.6608824C>T	gnomAD
ILK	A0A0A0MTH3	p.Leu163His	rs779820400	missense variant	-	NC_000011.10:g.6608830T>A	ExAC
ILK	A0A0A0MTH3	p.Thr165Ile	rs372234812	missense variant	-	NC_000011.10:g.6608836C>T	ESP,gnomAD
ILK	A0A0A0MTH3	p.Leu168Phe	rs368539510	missense variant	-	NC_000011.10:g.6608844C>T	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Leu168Ile	rs368539510	missense variant	-	NC_000011.10:g.6608844C>A	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro169Leu	rs768558367	missense variant	-	NC_000011.10:g.6608848C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Leu174Phe	rs1401782285	missense variant	-	NC_000011.10:g.6608864A>C	gnomAD
ILK	A0A0A0MTH3	p.Gly175Ala	rs769692488	missense variant	-	NC_000011.10:g.6608866G>C	ExAC,TOPMed
ILK	A0A0A0MTH3	p.Cys176Tyr	rs368896352	missense variant	-	NC_000011.10:g.6608869G>A	ESP,ExAC
ILK	A0A0A0MTH3	p.Ser178Pro	rs763068953	missense variant	-	NC_000011.10:g.6608874T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg182Gln	rs774837228	missense variant	-	NC_000011.10:g.6608887G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg182Trp	rs771485363	missense variant	-	NC_000011.10:g.6608886C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Glu184Gly	rs867451051	missense variant	-	NC_000011.10:g.6608893A>G	gnomAD
ILK	A0A0A0MTH3	p.Lys185Met	rs1027674317	missense variant	-	NC_000011.10:g.6608896A>T	TOPMed
ILK	A0A0A0MTH3	p.Lys185Asn	rs759935148	missense variant	-	NC_000011.10:g.6608897G>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Gly187Ser	rs199790448	missense variant	-	NC_000011.10:g.6608901G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg192Cys	rs761400440	missense variant	-	NC_000011.10:g.6608916C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg192Leu	rs569140095	missense variant	-	NC_000011.10:g.6608917G>T	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg192His	rs569140095	missense variant	-	NC_000011.10:g.6608917G>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ile193Val	rs764641628	missense variant	-	NC_000011.10:g.6608919A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ile193Met	rs1441174976	missense variant	-	NC_000011.10:g.6608921T>G	gnomAD
ILK	A0A0A0MTH3	p.Tyr195His	rs766210285	missense variant	-	NC_000011.10:g.6608925T>C	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Tyr195Ter	rs751375651	stop gained	-	NC_000011.10:g.6608927C>G	ExAC
ILK	A0A0A0MTH3	p.Lys196Met	rs754728057	missense variant	-	NC_000011.10:g.6608929A>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asp197His	rs781192537	missense variant	-	NC_000011.10:g.6608931G>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Phe199Cys	rs747974626	missense variant	-	NC_000011.10:g.6608938T>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Phe199Leu	rs1554898796	missense variant	-	NC_000011.10:g.6608939C>G	-
ILK	A0A0A0MTH3	p.Thr203Asn	rs756271344	missense variant	-	NC_000011.10:g.6608950C>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Thr203Ile	rs756271344	missense variant	-	NC_000011.10:g.6608950C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Thr204Asn	rs372608079	missense variant	-	NC_000011.10:g.6608953C>A	ESP,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Thr204Ile	rs372608079	missense variant	-	NC_000011.10:g.6608953C>T	ESP,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg205Cys	rs201671181	missense variant	-	NC_000011.10:g.6608955C>T	1000Genomes,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg205His	rs192233749	missense variant	-	NC_000011.10:g.6608956G>A	1000Genomes,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Thr206Ile	rs1378123090	missense variant	-	NC_000011.10:g.6608959C>T	TOPMed
ILK	A0A0A0MTH3	p.Arg207Trp	rs1333269100	missense variant	-	NC_000011.10:g.6608961C>T	gnomAD
ILK	A0A0A0MTH3	p.Arg207Gln	rs1282667873	missense variant	-	NC_000011.10:g.6608962G>A	TOPMed
ILK	A0A0A0MTH3	p.Arg209Ter	rs1375799547	stop gained	-	NC_000011.10:g.6608967C>T	gnomAD
ILK	A0A0A0MTH3	p.Thr212Ile	rs370953374	missense variant	-	NC_000011.10:g.6609080C>T	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Leu213Pro	rs777155173	missense variant	-	NC_000011.10:g.6609083T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asn214Lys	rs1238498641	missense variant	-	NC_000011.10:g.6609087C>A	gnomAD
ILK	A0A0A0MTH3	p.Lys215Thr	rs762454800	missense variant	-	NC_000011.10:g.6609089A>C	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.His216Pro	rs944132049	missense variant	-	NC_000011.10:g.6609092A>C	TOPMed
ILK	A0A0A0MTH3	p.Gly218Val	rs1406793461	missense variant	-	NC_000011.10:g.6609098G>T	TOPMed
ILK	A0A0A0MTH3	p.Asn225Asp	rs761882549	missense variant	-	NC_000011.10:g.6609118A>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Phe226Ile	rs1287846517	missense variant	-	NC_000011.10:g.6609121T>A	gnomAD
ILK	A0A0A0MTH3	p.Thr228Met	rs767383055	missense variant	-	NC_000011.10:g.6609128C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Thr228Lys	rs767383055	missense variant	-	NC_000011.10:g.6609128C>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Leu230Phe	rs752409651	missense variant	-	NC_000011.10:g.6609133C>T	ExAC
ILK	A0A0A0MTH3	p.Glu232Lys	rs1057518584	missense variant	-	NC_000011.10:g.6609139G>A	-
ILK	A0A0A0MTH3	p.Asn233Ser	rs1176547292	missense variant	-	NC_000011.10:g.6609143A>G	gnomAD
ILK	A0A0A0MTH3	p.His234Gln	rs528392640	missense variant	-	NC_000011.10:g.6609147C>A	1000Genomes,ExAC,gnomAD
ILK	A0A0A0MTH3	p.His234Tyr	rs1362965691	missense variant	-	NC_000011.10:g.6609145C>T	gnomAD
ILK	A0A0A0MTH3	p.Ser235Ala	rs1196872015	missense variant	-	NC_000011.10:g.6609148T>G	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Gly236Glu	rs548542841	missense variant	-	NC_000011.10:g.6609152G>A	1000Genomes,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Gly236Arg	rs757473698	missense variant	-	NC_000011.10:g.6609151G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Lys240Glu	rs1316191093	missense variant	-	NC_000011.10:g.6609305A>G	gnomAD
ILK	A0A0A0MTH3	p.Gly241Ser	rs1252024448	missense variant	-	NC_000011.10:g.6609308G>A	TOPMed
ILK	A0A0A0MTH3	p.Arg242Cys	rs140322345	missense variant	-	NC_000011.10:g.6609311C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg242His	rs200288502	missense variant	-	NC_000011.10:g.6609312G>A	1000Genomes,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Trp243Cys	rs758462999	missense variant	-	NC_000011.10:g.6609316G>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Gly245Asp	rs374924048	missense variant	-	NC_000011.10:g.6609321G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Gly245Ala	rs374924048	missense variant	-	NC_000011.10:g.6609321G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Asn246Ser	rs189208619	missense variant	-	NC_000011.10:g.6609324A>G	1000Genomes,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Asp247Gly	rs576804127	missense variant	-	NC_000011.10:g.6609327A>G	gnomAD
ILK	A0A0A0MTH3	p.Asp247Tyr	rs142708585	missense variant	-	NC_000011.10:g.6609326G>T	ESP,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ile248Thr	rs1050368247	missense variant	-	NC_000011.10:g.6609330T>C	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val249Ile	rs981185597	missense variant	-	NC_000011.10:g.6609332G>A	TOPMed
ILK	A0A0A0MTH3	p.Val250Met	rs545926425	missense variant	-	NC_000011.10:g.6609335G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Lys251Arg	rs1463931296	missense variant	-	NC_000011.10:g.6609339A>G	gnomAD
ILK	A0A0A0MTH3	p.Lys254Asn	rs147368550	missense variant	-	NC_000011.10:g.6609349G>T	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val255Phe	rs1375167000	missense variant	-	NC_000011.10:g.6609350G>T	gnomAD
ILK	A0A0A0MTH3	p.Arg256Ter	rs1179732298	stop gained	-	NC_000011.10:g.6609353C>T	TOPMed
ILK	A0A0A0MTH3	p.Arg256Gln	rs1315052873	missense variant	-	NC_000011.10:g.6609354G>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg256Gly	rs1179732298	missense variant	-	NC_000011.10:g.6609353C>G	TOPMed
ILK	A0A0A0MTH3	p.Trp258Arg	rs1054278826	missense variant	-	NC_000011.10:g.6609359T>C	TOPMed
ILK	A0A0A0MTH3	p.Thr260Ala	rs955720414	missense variant	-	NC_000011.10:g.6609365A>G	TOPMed
ILK	A0A0A0MTH3	p.Ser263Cys	rs775067414	missense variant	-	NC_000011.10:g.6609374A>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asn267Ser	rs145571020	missense variant	-	NC_000011.10:g.6609387A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Glu269Gln	rs148428064	missense variant	-	NC_000011.10:g.6609392G>C	1000Genomes,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Glu269Gly	rs914470282	missense variant	-	NC_000011.10:g.6609393A>G	TOPMed
ILK	A0A0A0MTH3	p.Cys270Gly	rs776545789	missense variant	-	NC_000011.10:g.6609395T>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Cys270Arg	rs776545789	missense variant	-	NC_000011.10:g.6609395T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Cys270Tyr	rs762502276	missense variant	-	NC_000011.10:g.6609396G>A	TOPMed
ILK	A0A0A0MTH3	p.Arg272Trp	rs765298592	missense variant	-	NC_000011.10:g.6609401C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg272Gln	rs773215648	missense variant	-	NC_000011.10:g.6609402G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Leu273Pro	rs1185447961	missense variant	-	NC_000011.10:g.6609405T>C	gnomAD
ILK	A0A0A0MTH3	p.Phe276Tyr	rs869025438	missense variant	-	NC_000011.10:g.6609517T>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val284Ala	rs1222959517	missense variant	-	NC_000011.10:g.6609541T>C	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Gly286Val	rs1385486344	missense variant	-	NC_000011.10:g.6609547G>T	TOPMed
ILK	A0A0A0MTH3	p.Ala287Pro	rs779240233	missense variant	-	NC_000011.10:g.6609549G>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Gln289Arg	rs746561372	missense variant	-	NC_000011.10:g.6609556A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Pro291Thr	rs750354350	missense variant	-	NC_000011.10:g.6609561C>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro291Ser	rs750354350	missense variant	-	NC_000011.10:g.6609561C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ala293Val	rs387907366	missense variant	-	NC_000011.10:g.6609568C>T	-
ILK	A0A0A0MTH3	p.Pro296Leu	rs747788514	missense variant	-	NC_000011.10:g.6609577C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Leu298Pro	rs1164411308	missense variant	-	NC_000011.10:g.6609583T>C	TOPMed
ILK	A0A0A0MTH3	p.Leu298Val	rs1236862935	missense variant	-	NC_000011.10:g.6609582C>G	gnomAD
ILK	A0A0A0MTH3	p.Ile299Val	rs777593652	missense variant	-	NC_000011.10:g.6609585A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ile299Thr	rs749229669	missense variant	-	NC_000011.10:g.6609586T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Thr300Ile	rs770920688	missense variant	-	NC_000011.10:g.6609589C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Trp302Ter	rs1164312453	stop gained	-	NC_000011.10:g.6609596G>A	gnomAD
ILK	A0A0A0MTH3	p.Met303Ile	rs1388336535	missense variant	-	NC_000011.10:g.6609599G>A	TOPMed
ILK	A0A0A0MTH3	p.Met303Thr	rs1244048050	missense variant	-	NC_000011.10:g.6609598T>C	gnomAD
ILK	A0A0A0MTH3	p.Pro304Arg	rs774113906	missense variant	-	NC_000011.10:g.6609601C>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro304Gln	rs774113906	missense variant	-	NC_000011.10:g.6609601C>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro304Leu	rs774113906	missense variant	-	NC_000011.10:g.6609601C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Tyr309Asn	rs149824696	missense variant	-	NC_000011.10:g.6609615T>A	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Tyr309His	rs149824696	missense variant	-	NC_000011.10:g.6609615T>C	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val311Leu	rs754252138	missense variant	-	NC_000011.10:g.6609621G>C	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val311Ile	rs754252138	missense variant	-	NC_000011.10:g.6609621G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.His313Arg	rs1375080177	missense variant	-	NC_000011.10:g.6609628A>G	gnomAD
ILK	A0A0A0MTH3	p.Gly315Asp	rs765781018	missense variant	-	NC_000011.10:g.6609634G>A	ExAC
ILK	A0A0A0MTH3	p.Asn317Asp	rs1334974997	missense variant	-	NC_000011.10:g.6609639A>G	gnomAD
ILK	A0A0A0MTH3	p.Val319Ile	rs377702962	missense variant	-	NC_000011.10:g.6609729G>A	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val320Met	rs776651238	missense variant	-	NC_000011.10:g.6609732G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Asp321Glu	rs1215631435	missense variant	-	NC_000011.10:g.6609737C>G	gnomAD
ILK	A0A0A0MTH3	p.Asp321Gly	rs530776032	missense variant	-	NC_000011.10:g.6609736A>G	1000Genomes,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Asp321Ala	rs530776032	missense variant	-	NC_000011.10:g.6609736A>C	1000Genomes,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Gln322Arg	rs1275582308	missense variant	-	NC_000011.10:g.6609739A>G	gnomAD
ILK	A0A0A0MTH3	p.Ala325Thr	rs763522423	missense variant	-	NC_000011.10:g.6609747G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ala325Pro	rs763522423	missense variant	-	NC_000011.10:g.6609747G>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Phe328Ser	rs755535703	missense variant	-	NC_000011.10:g.6609757T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Leu330Val	rs777483579	missense variant	-	NC_000011.10:g.6609762T>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asp331Gly	rs1241550995	missense variant	-	NC_000011.10:g.6609766A>G	gnomAD
ILK	A0A0A0MTH3	p.Met332Thr	rs753421650	missense variant	-	NC_000011.10:g.6609769T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Met332Val	rs1339432987	missense variant	-	NC_000011.10:g.6609768A>G	TOPMed
ILK	A0A0A0MTH3	p.Ala333Gly	rs1021715262	missense variant	-	NC_000011.10:g.6609772C>G	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Phe338Ser	rs745859204	missense variant	-	NC_000011.10:g.6609787T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Leu339Pro	rs1436127091	missense variant	-	NC_000011.10:g.6609790T>C	gnomAD
ILK	A0A0A0MTH3	p.Thr341Ile	rs1283676954	missense variant	-	NC_000011.10:g.6609796C>T	TOPMed
ILK	A0A0A0MTH3	p.Leu342Ile	rs376990122	missense variant	-	NC_000011.10:g.6609798C>A	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Leu345His	rs148581987	missense variant	-	NC_000011.10:g.6609808T>A	ESP,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Leu345Phe	rs768563368	missense variant	-	NC_000011.10:g.6609807C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ile346Val	rs201508380	missense variant	-	NC_000011.10:g.6609810A>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro347Ser	rs1203564359	missense variant	-	NC_000011.10:g.6609813C>T	gnomAD
ILK	A0A0A0MTH3	p.Arg348Gln	rs770233845	missense variant	-	NC_000011.10:g.6609817G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg348Ter	rs1283799272	stop gained	-	NC_000011.10:g.6609816C>T	gnomAD
ILK	A0A0A0MTH3	p.His349Arg	rs773688505	missense variant	-	NC_000011.10:g.6609820A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ala350Thr	rs763356453	missense variant	-	NC_000011.10:g.6609822G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Leu351Ile	rs912510389	missense variant	-	NC_000011.10:g.6609825C>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Leu351Val	rs912510389	missense variant	-	NC_000011.10:g.6609825C>G	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Asn352Ser	rs570806647	missense variant	-	NC_000011.10:g.6609829A>G	1000Genomes,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Asn352Asp	rs1005857328	missense variant	-	NC_000011.10:g.6609828A>G	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg354His	rs199652324	missense variant	-	NC_000011.10:g.6609835G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg354Cys	rs1455327884	missense variant	-	NC_000011.10:g.6609834C>T	gnomAD
ILK	A0A0A0MTH3	p.Met357Val	rs1181885506	missense variant	-	NC_000011.10:g.6609843A>G	TOPMed
ILK	A0A0A0MTH3	p.Asp359His	rs758123703	missense variant	-	NC_000011.10:g.6609939G>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Glu360Lys	rs1327210641	missense variant	-	NC_000011.10:g.6609942G>A	gnomAD
ILK	A0A0A0MTH3	p.Asp361Gly	rs1397320741	missense variant	-	NC_000011.10:g.6609946A>G	gnomAD
ILK	A0A0A0MTH3	p.Met362Ile	rs369264218	missense variant	-	NC_000011.10:g.6609950G>C	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg365Gln	rs566678782	missense variant	-	NC_000011.10:g.6609958G>A	1000Genomes,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg365Ter	rs1046668378	stop gained	-	NC_000011.10:g.6609957C>T	TOPMed
ILK	A0A0A0MTH3	p.Ile366Asn	rs1455102074	missense variant	-	NC_000011.10:g.6609961T>A	TOPMed
ILK	A0A0A0MTH3	p.Val371Gly	rs374027960	missense variant	-	NC_000011.10:g.6609976T>G	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Lys372Arg	rs781099551	missense variant	-	NC_000011.10:g.6609979A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Lys372Asn	rs1233947021	missense variant	-	NC_000011.10:g.6609980G>T	gnomAD
ILK	A0A0A0MTH3	p.Phe375Cys	rs1273794131	missense variant	-	NC_000011.10:g.6609988T>G	gnomAD
ILK	A0A0A0MTH3	p.Phe375Leu	rs1358304642	missense variant	-	NC_000011.10:g.6609989C>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg380Leu	rs377094824	missense variant	-	NC_000011.10:g.6610003G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg380His	rs377094824	missense variant	-	NC_000011.10:g.6610003G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg380Cys	rs1257537906	missense variant	-	NC_000011.10:g.6610002C>T	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Met381Val	rs749671754	missense variant	-	NC_000011.10:g.6610005A>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Met381Leu	rs749671754	missense variant	-	NC_000011.10:g.6610005A>C	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro384Ser	rs1474632483	missense variant	-	NC_000011.10:g.6610014C>T	gnomAD
ILK	A0A0A0MTH3	p.Val387Ala	rs759931830	missense variant	-	NC_000011.10:g.6610024T>C	ExAC,TOPMed
ILK	A0A0A0MTH3	p.Val387Ile	rs199558648	missense variant	-	NC_000011.10:g.6610023G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro389Thr	rs191096877	missense variant	-	NC_000011.10:g.6610029C>A	1000Genomes
ILK	A0A0A0MTH3	p.Glu390Lys	rs1243705654	missense variant	-	NC_000011.10:g.6610032G>A	TOPMed
ILK	A0A0A0MTH3	p.Glu390Asp	rs763712933	missense variant	-	NC_000011.10:g.6610034A>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Gln393His	rs142990615	missense variant	-	NC_000011.10:g.6610155G>C	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Lys395Gln	rs865878764	missense variant	-	NC_000011.10:g.6610159A>C	gnomAD
ILK	A0A0A0MTH3	p.Pro396Ala	rs762559213	missense variant	-	NC_000011.10:g.6610162C>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Glu397Lys	rs1300901328	missense variant	-	NC_000011.10:g.6610165G>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Thr399Ile	rs751329555	missense variant	-	NC_000011.10:g.6610172C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Thr399Arg	rs751329555	missense variant	-	NC_000011.10:g.6610172C>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg402His	rs370480843	missense variant	-	NC_000011.10:g.6610181G>A	ESP,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg402Cys	rs759330457	missense variant	-	NC_000011.10:g.6610180C>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ala404Thr	rs756318102	missense variant	-	NC_000011.10:g.6610186G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Met406Ile	rs1454962994	missense variant	-	NC_000011.10:g.6610194G>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Met406Leu	rs1394802490	missense variant	-	NC_000011.10:g.6610192A>C	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Met406Ile	rs1454962994	missense variant	-	NC_000011.10:g.6610194G>C	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Met406Val	rs1394802490	missense variant	-	NC_000011.10:g.6610192A>G	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ala410Thr	rs777970676	missense variant	-	NC_000011.10:g.6610204G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ala410Val	rs1343648430	missense variant	-	NC_000011.10:g.6610205C>T	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Glu415Asp	rs1437142163	missense variant	-	NC_000011.10:g.6610221A>C	gnomAD
ILK	A0A0A0MTH3	p.Glu415Ter	rs779157270	stop gained	-	NC_000011.10:g.6610219G>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Val417Leu	rs772427264	missense variant	-	NC_000011.10:g.6610225G>T	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Thr418Ile	rs780486336	missense variant	-	NC_000011.10:g.6610229C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg419Trp	rs776996356	missense variant	-	NC_000011.10:g.6610231C>T	gnomAD
ILK	A0A0A0MTH3	p.Arg419Gln	rs747548824	missense variant	-	NC_000011.10:g.6610232G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ala424Gly	rs966713977	missense variant	-	NC_000011.10:g.6610247C>G	TOPMed
ILK	A0A0A0MTH3	p.Asp425Asn	rs730880112	missense variant	-	NC_000011.10:g.6610249G>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ile431Met	rs573043537	missense variant	-	NC_000011.10:g.6610269T>G	1000Genomes,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Lys434Arg	rs762397629	missense variant	-	NC_000011.10:g.6610277A>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Leu437Ser	rs1244639583	missense variant	-	NC_000011.10:g.6610469T>C	TOPMed
ILK	A0A0A0MTH3	p.Gly439Ser	rs1427775328	missense variant	-	NC_000011.10:g.6610474G>A	gnomAD
ILK	A0A0A0MTH3	p.Arg441Trp	rs778453343	missense variant	-	NC_000011.10:g.6610480C>T	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Arg441Gln	rs745314579	missense variant	-	NC_000011.10:g.6610481G>A	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Thr443Ser	rs1458470224	missense variant	-	NC_000011.10:g.6610487C>G	gnomAD
ILK	A0A0A0MTH3	p.Gly447Ser	rs775217190	missense variant	-	NC_000011.10:g.6610498G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ile448Thr	rs1361859236	missense variant	-	NC_000011.10:g.6610502T>C	gnomAD
ILK	A0A0A0MTH3	p.Ser449Pro	rs1554900104	missense variant	-	NC_000011.10:g.6610504T>C	-
ILK	A0A0A0MTH3	p.His451Arg	rs1300196118	missense variant	-	NC_000011.10:g.6610511A>G	gnomAD
ILK	A0A0A0MTH3	p.His451Tyr	rs1554900107	missense variant	-	NC_000011.10:g.6610510C>T	-
ILK	A0A0A0MTH3	p.Met456Ile	rs373728455	missense variant	-	NC_000011.10:g.6610527G>A	ESP,ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Cys459Tyr	rs1213733033	missense variant	-	NC_000011.10:g.6610535G>A	gnomAD
ILK	A0A0A0MTH3	p.Met460Val	rs1554900131	missense variant	-	NC_000011.10:g.6610537A>G	-
ILK	A0A0A0MTH3	p.Asp463Glu	rs765285266	missense variant	-	NC_000011.10:g.6610548C>G	ExAC,TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Pro464Ser	rs1475010097	missense variant	-	NC_000011.10:g.6610549C>T	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg467Ter	rs1477497923	stop gained	-	NC_000011.10:g.6610558C>T	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Arg467Gln	rs773362090	missense variant	-	NC_000011.10:g.6610559G>A	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Met472Arg	rs1452306438	missense variant	-	NC_000011.10:g.6610574T>G	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Met472Lys	rs1452306438	missense variant	-	NC_000011.10:g.6610574T>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ile473Val	rs141181875	missense variant	-	NC_000011.10:g.6610576A>G	ESP,ExAC,gnomAD
ILK	A0A0A0MTH3	p.Val474Met	rs1191199055	missense variant	-	NC_000011.10:g.6610579G>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Val474Ala	rs1425413558	missense variant	-	NC_000011.10:g.6610580T>C	gnomAD
ILK	A0A0A0MTH3	p.Pro475Ala	rs766624785	missense variant	-	NC_000011.10:g.6610582C>G	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Met480Ile	rs1323106962	missense variant	-	NC_000011.10:g.6610599G>A	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Gln481His	rs767862990	missense variant	-	NC_000011.10:g.6610602G>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Asp482Glu	rs1234007742	missense variant	-	NC_000011.10:g.6610605C>G	TOPMed,gnomAD
ILK	A0A0A0MTH3	p.Ter484Trp	rs1169840219	stop lost	-	NC_000011.10:g.6610610A>G	gnomAD
ILK	A0A0A0MTH3	p.Ter484Gln	rs756620800	stop lost	-	NC_000011.10:g.6610609T>C	ExAC,gnomAD
ILK	A0A0A0MTH3	p.Ter484Tyr	rs1400986012	stop lost	-	NC_000011.10:g.6610611G>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Ala2Val	COSM3883350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92134360G>A	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Ala5Thr	rs312262909	missense variant	-	NC_000007.14:g.92134352C>T	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala5Pro	rs312262909	missense variant	-	NC_000007.14:g.92134352C>G	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu8Val	rs759186637	missense variant	-	NC_000007.14:g.92134343G>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu9Pro	rs765891268	missense variant	-	NC_000007.14:g.92134339A>G	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gln14Leu	rs1257617460	missense variant	-	NC_000007.14:g.92134324T>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Ala15Val	rs138006785	missense variant	-	NC_000007.14:g.92134321G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Gly16Val	rs1370167546	missense variant	-	NC_000007.14:g.92134318C>A	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Gly16Arg	rs770354825	missense variant	-	NC_000007.14:g.92134319C>G	ExAC
CYP51A1	A0A0C4DFL7	p.Gly17Glu	rs777085204	missense variant	-	NC_000007.14:g.92134315C>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Gly17Ala	rs777085204	missense variant	-	NC_000007.14:g.92134315C>G	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser18Ter	rs769042342	stop gained	-	NC_000007.14:g.92134312G>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser18Trp	rs769042342	missense variant	-	NC_000007.14:g.92134312G>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser18Ala	rs1006063551	missense variant	-	NC_000007.14:g.92134313A>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Val19Ala	rs2229188	missense variant	-	NC_000007.14:g.92134309A>G	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala23Thr	rs1434418422	missense variant	-	NC_000007.14:g.92134298C>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Met24Ile	rs745869732	missense variant	-	NC_000007.14:g.92134293C>G	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Met24Leu	rs772192197	missense variant	-	NC_000007.14:g.92134295T>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Met24Ile	rs745869732	missense variant	-	NC_000007.14:g.92134293C>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Lys26Asn	rs1179748917	missense variant	-	NC_000007.14:g.92134287C>G	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Lys26Arg	rs1232419052	missense variant	-	NC_000007.14:g.92134288T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Val27Glu	rs777701358	missense variant	-	NC_000007.14:g.92134285A>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asn31Lys	rs146964281	missense variant	-	NC_000007.14:g.92134272G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu33Val	COSM1313413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92134268A>C	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Leu33Ser	rs754634511	missense variant	-	NC_000007.14:g.92134267A>G	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Met35Leu	rs1278131014	missense variant	-	NC_000007.14:g.92134262T>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Met35Ile	rs751210534	missense variant	-	NC_000007.14:g.92134260C>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu36Arg	rs765867586	missense variant	-	NC_000007.14:g.92134258A>C	ExAC
CYP51A1	A0A0C4DFL7	p.Leu37Val	rs762525937	missense variant	-	NC_000007.14:g.92134256G>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu37Pro	rs1278512464	missense variant	-	NC_000007.14:g.92134255A>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Ala39Ser	rs749892526	missense variant	-	NC_000007.14:g.92134250C>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Cys40Ser	rs765865740	missense variant	-	NC_000007.14:g.92134246C>G	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Cys40Gly	rs1414578203	missense variant	-	NC_000007.14:g.92134247A>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Ala41Thr	rs376664914	missense variant	-	NC_000007.14:g.92134244C>T	ESP,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg51Cys	rs772128272	missense variant	-	NC_000007.14:g.92134214G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg51His	rs141141306	missense variant	-	NC_000007.14:g.92134213C>T	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg51Ser	rs772128272	missense variant	-	NC_000007.14:g.92134214G>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu52Val	rs778926494	missense variant	-	NC_000007.14:g.92134211G>C	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala54Thr	rs372343694	missense variant	-	NC_000007.14:g.92134205C>T	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala54Val	rs1217673079	missense variant	-	NC_000007.14:g.92134204G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.His56Gln	rs1283391141	missense variant	-	NC_000007.14:g.92134197G>C	gnomAD
CYP51A1	A0A0C4DFL7	p.His56Tyr	rs573353670	missense variant	-	NC_000007.14:g.92134199G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu60Met	rs1293347153	missense variant	-	NC_000007.14:g.92134187G>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro61Leu	rs1232344451	missense variant	-	NC_000007.14:g.92134183G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Ala62Ser	rs779766189	missense variant	-	NC_000007.14:g.92134181C>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gly63Glu	rs376480367	missense variant	-	NC_000007.14:g.92134177C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gly63Trp	rs1411606857	missense variant	-	NC_000007.14:g.92134178C>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Val64Met	rs1194909981	missense variant	-	NC_000007.14:g.92134175C>T	TOPMed
CYP51A1	A0A0C4DFL7	p.Lys65Arg	rs1461734631	missense variant	-	NC_000007.14:g.92131871T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Ser66Gly	rs1352969867	missense variant	-	NC_000007.14:g.92131869T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro68Thr	rs1168081018	missense variant	-	NC_000007.14:g.92131863G>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Tyr69Ter	rs774551272	stop gained	-	NC_000007.14:g.92131858G>C	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Tyr69Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92131859T>C	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Ile70Val	rs766521402	missense variant	-	NC_000007.14:g.92131857T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Phe71Val	rs763030715	missense variant	-	NC_000007.14:g.92131854A>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser72Phe	rs773113914	missense variant	-	NC_000007.14:g.92131850G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile74Val	rs148197561	missense variant	-	NC_000007.14:g.92131845T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile74Leu	rs148197561	missense variant	-	NC_000007.14:g.92131845T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile74Phe	rs148197561	missense variant	-	NC_000007.14:g.92131845T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Phe76Tyr	rs1230760264	missense variant	-	NC_000007.14:g.92131838A>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Leu77Phe	rs1213473126	missense variant	-	NC_000007.14:g.92131836G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Gly78Val	rs771992136	missense variant	-	NC_000007.14:g.92131832C>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.His79Tyr	rs375716835	missense variant	-	NC_000007.14:g.92131830G>A	ESP,ExAC,TOPMed
CYP51A1	A0A0C4DFL7	p.Ala80Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92131826G>T	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Phe83Leu	rs1280033473	missense variant	-	NC_000007.14:g.92131818A>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Ile88Val	rs138205508	missense variant	-	NC_000007.14:g.92131803T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile88Thr	rs149112643	missense variant	-	NC_000007.14:g.92131802A>G	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu89Lys	COSM1092997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92131800C>T	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Glu92Gly	rs1034741279	missense variant	-	NC_000007.14:g.92131790T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Glu96Lys	COSM1313412	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92131779C>T	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Glu96Gly	rs756695149	missense variant	-	NC_000007.14:g.92131778T>C	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Lys97Ter	COSM3883349	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.92131776T>A	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Tyr98Cys	rs755424289	missense variant	-	NC_000007.14:g.92129055T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser103Gly	rs780364458	missense variant	-	NC_000007.14:g.92129041T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Phe104Cys	rs957151238	missense variant	-	NC_000007.14:g.92129037A>C	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Thr105Ser	rs750608351	missense variant	-	NC_000007.14:g.92129034G>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Thr105Asn	rs750608351	missense variant	-	NC_000007.14:g.92129034G>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Met106Val	rs146474563	missense variant	-	NC_000007.14:g.92129032T>C	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Val107Ile	rs551704866	missense variant	-	NC_000007.14:g.92129029C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Val107Ala	rs1275196515	missense variant	-	NC_000007.14:g.92129028A>G	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Thr112Ser	rs759517992	missense variant	-	NC_000007.14:g.92129014T>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu114Pro	rs1242380745	missense variant	-	NC_000007.14:g.92129007A>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Leu115Arg	rs1328030760	missense variant	-	NC_000007.14:g.92129004A>C	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp118Ala	rs528523424	missense variant	-	NC_000007.14:g.92128995T>G	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala119Gly	rs1381645352	missense variant	-	NC_000007.14:g.92128992G>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Ala120Val	rs770839295	missense variant	-	NC_000007.14:g.92128989G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala121Thr	rs762730609	missense variant	-	NC_000007.14:g.92128987C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala121Val	rs375807424	missense variant	-	NC_000007.14:g.92128986G>A	ESP,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asn125His	rs372875744	missense variant	-	NC_000007.14:g.92128975T>G	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser126Asn	rs780640460	missense variant	-	NC_000007.14:g.92128971C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp130His	rs1374029916	missense variant	-	NC_000007.14:g.92128960C>G	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp130Glu	rs747490076	missense variant	-	NC_000007.14:g.92128958G>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala133Val	rs1353246786	missense variant	-	NC_000007.14:g.92128950G>A	TOPMed
CYP51A1	A0A0C4DFL7	p.Asp135Gly	rs1441644451	missense variant	-	NC_000007.14:g.92128944T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Asp135Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92128945C>A	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Tyr137Cys	rs368261783	missense variant	-	NC_000007.14:g.92128938T>C	ESP,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser138Asn	rs750743669	missense variant	-	NC_000007.14:g.92128935C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg139Leu	rs140356336	missense variant	-	NC_000007.14:g.92128932C>A	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg139His	rs140356336	missense variant	-	NC_000007.14:g.92128932C>T	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg139Cys	rs758553106	missense variant	-	NC_000007.14:g.92128933G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Pro143Ser	rs1340319542	missense variant	-	NC_000007.14:g.92128921G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Ala150Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92128900C>T	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Tyr151Asp	rs312262912	missense variant	-	NC_000007.14:g.92128897A>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Asp152Glu	rs766350147	missense variant	-	NC_000007.14:g.92128892A>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp152Gly	rs371492794	missense variant	-	NC_000007.14:g.92128893T>C	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp152Asn	rs755026542	missense variant	-	NC_000007.14:g.92128894C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Pro154Thr	rs1320973894	missense variant	-	NC_000007.14:g.92128888G>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro154Leu	rs762665681	missense variant	-	NC_000007.14:g.92128887G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asn155Ser	rs1396756852	missense variant	-	NC_000007.14:g.92128884T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro156Leu	rs146573154	missense variant	-	NC_000007.14:g.92128881G>A	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Val157Ala	rs1363459886	missense variant	-	NC_000007.14:g.92127630A>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Val157Gly	rs1363459886	missense variant	-	NC_000007.14:g.92127630A>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Val157Ile	rs766245719	missense variant	-	NC_000007.14:g.92127631C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Phe158Val	rs1180347451	missense variant	-	NC_000007.14:g.92127628A>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Met164Leu	rs144068591	missense variant	-	NC_000007.14:g.92127610T>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu165Ter	rs750224776	stop gained	-	NC_000007.14:g.92127606A>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser167Gly	rs1441786183	missense variant	-	NC_000007.14:g.92127601T>C	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu169Val	rs1225000839	missense variant	-	NC_000007.14:g.92127595G>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Leu169Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92127595G>T	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Ile171Val	rs139239552	missense variant	-	NC_000007.14:g.92127589T>C	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala172Val	rs776271983	missense variant	-	NC_000007.14:g.92127585G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.His177Gln	rs1400566855	missense variant	-	NC_000007.14:g.92127569A>T	TOPMed
CYP51A1	A0A0C4DFL7	p.His177Arg	rs535433995	missense variant	-	NC_000007.14:g.92127570T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Val178Ile	rs927164088	missense variant	-	NC_000007.14:g.92127568C>T	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser179Pro	rs1294304078	missense variant	-	NC_000007.14:g.92127565A>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Ile180Val	rs1157146367	missense variant	-	NC_000007.14:g.92127562T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Ile180Thr	rs760201793	missense variant	-	NC_000007.14:g.92127561A>G	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu184ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.92127550_92127551insT	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Thr185Ala	rs772499331	missense variant	-	NC_000007.14:g.92127547T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Tyr188Cys	rs151249652	missense variant	-	NC_000007.14:g.92127537T>C	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu190Gly	rs1157034982	missense variant	-	NC_000007.14:g.92127531T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Glu190Asp	rs771325259	missense variant	-	NC_000007.14:g.92127530C>G	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Trp192Ter	rs1418779389	stop gained	-	NC_000007.14:g.92127524C>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Glu194Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92127518T>G	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Glu197Gln	rs1188399041	missense variant	-	NC_000007.14:g.92127511C>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Glu197Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.92127511C>A	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Lys198Arg	rs1472321575	missense variant	-	NC_000007.14:g.92127507T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Asn199Ser	rs1411407729	missense variant	-	NC_000007.14:g.92126427T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Asn199MetPheSerTerUnkUnk	rs768885299	frameshift	-	NC_000007.14:g.92127505T>-	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Val200Leu	rs763768697	missense variant	-	NC_000007.14:g.92126425C>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Val200Met	rs763768697	missense variant	-	NC_000007.14:g.92126425C>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala203Thr	rs752203059	missense variant	-	NC_000007.14:g.92126416C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala203Val	rs1286438351	missense variant	-	NC_000007.14:g.92126415G>A	TOPMed
CYP51A1	A0A0C4DFL7	p.Ile208Val	rs1469378177	missense variant	-	NC_000007.14:g.92126401T>C	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile208Leu	rs1469378177	missense variant	-	NC_000007.14:g.92126401T>G	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile209Val	rs541254407	missense variant	-	NC_000007.14:g.92126398T>C	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Thr211Ile	rs760031694	missense variant	-	NC_000007.14:g.92126391G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala212Ser	rs1227796916	missense variant	-	NC_000007.14:g.92126389C>A	TOPMed
CYP51A1	A0A0C4DFL7	p.Ala212Gly	rs771282146	missense variant	-	NC_000007.14:g.92126388G>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala212Val	rs771282146	missense variant	-	NC_000007.14:g.92126388G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.His214Arg	rs1215466875	missense variant	-	NC_000007.14:g.92126382T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Leu216Phe	rs895752376	missense variant	-	NC_000007.14:g.92126375C>G	TOPMed
CYP51A1	A0A0C4DFL7	p.His217Leu	rs763430437	missense variant	-	NC_000007.14:g.92126373T>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Lys219Arg	rs1196930833	missense variant	-	NC_000007.14:g.92126367T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Glu220Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92126365C>T	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Gln224Ter	rs773667970	stop gained	-	NC_000007.14:g.92126353G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu225Val	rs770177052	missense variant	-	NC_000007.14:g.92126350G>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asn226Ser	rs1194927681	missense variant	-	NC_000007.14:g.92126346T>C	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu227Gly	rs748357739	missense variant	-	NC_000007.14:g.92126343T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu227Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.92126344C>A	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Lys228Gln	rs142437178	missense variant	-	NC_000007.14:g.92126341T>G	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Val229Leu	rs998666900	missense variant	-	NC_000007.14:g.92126338C>A	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala230Thr	COSM1092995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92126335C>T	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Tyr233Cys	rs1260803309	missense variant	-	NC_000007.14:g.92126325T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Gly238Glu	rs1009256662	missense variant	-	NC_000007.14:g.92126310C>T	TOPMed
CYP51A1	A0A0C4DFL7	p.Gly239Asp	rs1486619228	missense variant	-	NC_000007.14:g.92126307C>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Ser241Thr	rs375056689	missense variant	-	NC_000007.14:g.92126301C>G	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser241Cys	rs747004092	missense variant	-	NC_000007.14:g.92126302T>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.His242Arg	rs757146746	missense variant	-	NC_000007.14:g.92126298T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala243Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92126296C>T	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Ala244Gly	rs1281027698	missense variant	-	NC_000007.14:g.92126292G>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Trp245Ter	rs753673809	stop gained	-	NC_000007.14:g.92126289C>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu247Ser	rs1042844921	missense variant	-	NC_000007.14:g.92126283A>G	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Pro248Ser	rs1190105933	missense variant	-	NC_000007.14:g.92126281G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Gly249Ser	rs1487310779	missense variant	-	NC_000007.14:g.92126278C>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro252Ala	rs1341840589	missense variant	-	NC_000007.14:g.92126269G>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro252Arg	rs1272906205	missense variant	-	NC_000007.14:g.92126268G>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Leu253Ser	rs536125410	missense variant	-	NC_000007.14:g.92126265A>G	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu253Trp	rs536125410	missense variant	-	NC_000007.14:g.92126265A>C	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser255Gly	rs1257635853	missense variant	-	NC_000007.14:g.92126260T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Phe256Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92126255G>T	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Arg258His	rs765961879	missense variant	-	NC_000007.14:g.92123851C>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg258Leu	rs765961879	missense variant	-	NC_000007.14:g.92123851C>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg258Cys	rs200921006	missense variant	-	NC_000007.14:g.92123852G>A	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg261Lys	rs1176047095	missense variant	-	NC_000007.14:g.92123842C>T	TOPMed
CYP51A1	A0A0C4DFL7	p.His263Tyr	rs750961058	missense variant	-	NC_000007.14:g.92123837G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.His263Arg	rs941233670	missense variant	-	NC_000007.14:g.92123836T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Arg264Gly	rs372185409	missense variant	-	NC_000007.14:g.92123834G>C	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg264Trp	rs372185409	missense variant	-	NC_000007.14:g.92123834G>A	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg264Gln	rs567300492	missense variant	-	NC_000007.14:g.92123833C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu265Gly	rs370279787	missense variant	-	NC_000007.14:g.92123830T>C	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile266Ser	rs764417991	missense variant	-	NC_000007.14:g.92123827A>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp268Gly	rs1054840553	missense variant	-	NC_000007.14:g.92123821T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Ile269Val	rs760787064	missense variant	-	NC_000007.14:g.92123819T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Phe270Leu	rs1433365074	missense variant	-	NC_000007.14:g.92123814G>C	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Tyr271Cys	rs775608607	missense variant	-	NC_000007.14:g.92123812T>C	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Lys272Glu	rs772139757	missense variant	-	NC_000007.14:g.92123810T>C	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala273Pro	rs1475710671	missense variant	-	NC_000007.14:g.92123807C>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Ile274Thr	rs141009880	missense variant	-	NC_000007.14:g.92123803A>G	ESP,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gln275Arg	rs1239145049	missense variant	-	NC_000007.14:g.92123800T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Arg277Leu	rs140702410	missense variant	-	NC_000007.14:g.92123794C>A	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg277Cys	rs944015648	missense variant	-	NC_000007.14:g.92123795G>A	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg277His	rs140702410	missense variant	-	NC_000007.14:g.92123794C>T	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg278LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.92123787_92123793CTGTCTG>-	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Gln281Pro	rs780815145	missense variant	-	NC_000007.14:g.92123782T>G	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu282Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.92123780C>A	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Ile284Val	rs1275243191	missense variant	-	NC_000007.14:g.92123774T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Asp285Gly	rs746627790	missense variant	-	NC_000007.14:g.92123770T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp285Tyr	rs146408738	missense variant	-	NC_000007.14:g.92123771C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile287Val	rs1394288826	missense variant	-	NC_000007.14:g.92123765T>C	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu288Phe	COSM3924213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92123762G>A	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Thr290Ala	rs779777711	missense variant	-	NC_000007.14:g.92123756T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp293Val	rs757985174	missense variant	-	NC_000007.14:g.92123746T>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala294Thr	rs1386027337	missense variant	-	NC_000007.14:g.92123744C>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Arg300His	rs768330653	missense variant	-	NC_000007.14:g.92123307C>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg300Cys	rs776543387	missense variant	-	NC_000007.14:g.92123308G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp305Tyr	rs1391354092	missense variant	-	NC_000007.14:g.92123293C>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Glu306Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92123290C>T	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Ala308Val	rs143968550	missense variant	-	NC_000007.14:g.92123283G>A	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu311Phe	rs779863847	missense variant	-	NC_000007.14:g.92123275G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile312Phe	rs1397040817	missense variant	-	NC_000007.14:g.92123272T>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Ala317Val	rs985419477	missense variant	-	NC_000007.14:g.92123256G>A	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala317Glu	rs985419477	missense variant	-	NC_000007.14:g.92123256G>T	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.His320Arg	rs745413412	missense variant	-	NC_000007.14:g.92123247T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.His320Pro	rs745413412	missense variant	-	NC_000007.14:g.92123247T>G	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Thr321Ile	rs1207863213	missense variant	-	NC_000007.14:g.92123244G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Thr324Ala	rs932708139	missense variant	-	NC_000007.14:g.92123236T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Thr324Ile	rs1275047021	missense variant	-	NC_000007.14:g.92123235G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Thr325Ala	rs377725460	missense variant	-	NC_000007.14:g.92123233T>C	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser326Ile	rs1338992027	missense variant	-	NC_000007.14:g.92123229C>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Ser326Arg	rs1268696350	missense variant	-	NC_000007.14:g.92123228A>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Met329Val	rs757841201	missense variant	-	NC_000007.14:g.92123221T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gly330Ala	rs754299611	missense variant	-	NC_000007.14:g.92123217C>G	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu333Ser	rs1330179621	missense variant	-	NC_000007.14:g.92123208A>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Leu333TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.92123208A>-	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Ala334Ser	rs140118347	missense variant	-	NC_000007.14:g.92123206C>A	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp336Glu	rs1392752438	missense variant	-	NC_000007.14:g.92123198G>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Thr338Ile	rs753013830	missense variant	-	NC_000007.14:g.92123193G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gln340Lys	rs759721514	missense variant	-	NC_000007.14:g.92123188G>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Lys341Glu	rs184629573	missense variant	-	NC_000007.14:g.92123185T>C	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Lys342AsnPheSerTerUnk	COSM4613162	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.92123180T>-	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Cys343MetPheSerTerUnkUnk	rs746385504	frameshift	-	NC_000007.14:g.92123179_92123180insT	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Tyr344His	rs761876372	missense variant	-	NC_000007.14:g.92123176A>G	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu346Asp	rs1173240766	missense variant	-	NC_000007.14:g.92123168T>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Gln347Lys	rs981295706	missense variant	-	NC_000007.14:g.92123167G>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Gln347Ter	rs981295706	stop gained	-	NC_000007.14:g.92123167G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro356Leu	rs1482034068	missense variant	-	NC_000007.14:g.92123139G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro356Ser	rs775395552	missense variant	-	NC_000007.14:g.92123140G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Pro357Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92123137G>A	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Thr359Ser	rs1237119184	missense variant	-	NC_000007.14:g.92123130G>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Thr359Ala	rs771902126	missense variant	-	NC_000007.14:g.92123131T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gln362Glu	rs745502963	missense variant	-	NC_000007.14:g.92123122G>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp365Tyr	COSM3833470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92118609C>A	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Asp365Asn	rs1039290018	missense variant	-	NC_000007.14:g.92118609C>T	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp365Val	rs1426032093	missense variant	-	NC_000007.14:g.92118608T>A	TOPMed
CYP51A1	A0A0C4DFL7	p.Asp370Glu	rs1441769612	missense variant	-	NC_000007.14:g.92118592A>C	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg371Cys	rs376034553	missense variant	-	NC_000007.14:g.92118591G>A	1000Genomes,ESP,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg371Gly	rs376034553	missense variant	-	NC_000007.14:g.92118591G>C	1000Genomes,ESP,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg371Ser	rs376034553	missense variant	-	NC_000007.14:g.92118591G>T	1000Genomes,ESP,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg371His	rs138355676	missense variant	-	NC_000007.14:g.92118590C>T	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg371Leu	rs138355676	missense variant	-	NC_000007.14:g.92118590C>A	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile373Val	rs1386771548	missense variant	-	NC_000007.14:g.92118585T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Glu375Ter	COSM3431854	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.92118579C>A	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Arg378Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92118569C>A	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Leu379Ile	rs1329435779	missense variant	-	NC_000007.14:g.92118567G>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Arg380ArgIleLeuProCysIlePheLeuAla	NCI-TCGA novel	insertion	-	NC_000007.14:g.92118562_92118563insGCTAGGAAGATGCAAGGAAGGATTCTC	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Pro381Thr	rs760669078	missense variant	-	NC_000007.14:g.92118561G>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile383Leu	rs150090274	missense variant	-	NC_000007.14:g.92118555T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile383Val	rs150090274	missense variant	-	NC_000007.14:g.92118555T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Met384Ile	COSM3698597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92118550C>A	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Met384Leu	rs1285150928	missense variant	-	NC_000007.14:g.92118552T>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Met384Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92118551A>G	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Ile385Phe	rs759341868	missense variant	-	NC_000007.14:g.92118549T>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Met386Val	rs773893086	missense variant	-	NC_000007.14:g.92118546T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Met387Val	rs1355542869	missense variant	-	NC_000007.14:g.92118543T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Met387Ile	rs765119371	missense variant	-	NC_000007.14:g.92118541C>G	ExAC
CYP51A1	A0A0C4DFL7	p.Met387Ile	rs765119371	missense variant	-	NC_000007.14:g.92118541C>T	ExAC
CYP51A1	A0A0C4DFL7	p.Arg388Ter	rs748782320	stop gained	-	NC_000007.14:g.92118540T>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Tyr399Asp	rs772652243	missense variant	-	NC_000007.14:g.92117200A>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Thr400Ala	rs139028687	missense variant	-	NC_000007.14:g.92117197T>C	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Pro403Leu	rs1394502139	missense variant	-	NC_000007.14:g.92117187G>A	TOPMed
CYP51A1	A0A0C4DFL7	p.His405Tyr	rs747587844	missense variant	-	NC_000007.14:g.92117182G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gln406Arg	rs1442075748	missense variant	-	NC_000007.14:g.92117178T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Val409Ile	rs1186056985	missense variant	-	NC_000007.14:g.92117170C>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Ser410Phe	rs999398044	missense variant	-	NC_000007.14:g.92117166G>A	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Pro411Ser	rs777133695	missense variant	-	NC_000007.14:g.92117164G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Val413Ile	COSM4676038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92117158C>T	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Gln415Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92117152G>C	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Leu417Pro	rs554366054	missense variant	-	NC_000007.14:g.92117145A>G	1000Genomes
CYP51A1	A0A0C4DFL7	p.Leu417Arg	rs554366054	missense variant	-	NC_000007.14:g.92117145A>C	1000Genomes
CYP51A1	A0A0C4DFL7	p.Lys418MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.92117137_92117144AGTCTTTA>-	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Asp419Tyr	rs769100106	missense variant	-	NC_000007.14:g.92117140C>A	ExAC
CYP51A1	A0A0C4DFL7	p.Ser420Leu	rs1342063694	missense variant	-	NC_000007.14:g.92117136G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Trp421Ter	rs141654764	stop gained	-	NC_000007.14:g.92117132C>T	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu423Asp	rs1220953684	missense variant	-	NC_000007.14:g.92117126T>G	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg424Cys	rs780433685	missense variant	-	NC_000007.14:g.92117125G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg424His	rs746098957	missense variant	-	NC_000007.14:g.92117124C>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg424Pro	rs746098957	missense variant	-	NC_000007.14:g.92117124C>G	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp426Asn	rs993711407	missense variant	-	NC_000007.14:g.92117119C>T	TOPMed
CYP51A1	A0A0C4DFL7	p.Asp430His	rs779212176	missense variant	-	NC_000007.14:g.92117107C>G	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg431Cys	rs757428909	missense variant	-	NC_000007.14:g.92117104G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg431His	rs138109473	missense variant	-	NC_000007.14:g.92117103C>T	ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Tyr432Asp	rs1163959642	missense variant	-	NC_000007.14:g.92117101A>C	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Gln434His	rs1489682758	missense variant	-	NC_000007.14:g.92117093C>A	TOPMed
CYP51A1	A0A0C4DFL7	p.Gln434Arg	rs751356152	missense variant	-	NC_000007.14:g.92117094T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gln434Ter	rs145599211	stop gained	-	NC_000007.14:g.92117095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Gln434Glu	rs145599211	missense variant	-	NC_000007.14:g.92117095G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp435Glu	rs766179147	missense variant	-	NC_000007.14:g.92117090A>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Pro437Ser	rs59683852	missense variant	-	NC_000007.14:g.92117086G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Glu441Lys	rs764811569	missense variant	-	NC_000007.14:g.92117074C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ala444Val	rs1036173048	missense variant	-	NC_000007.14:g.92117064G>A	TOPMed
CYP51A1	A0A0C4DFL7	p.Tyr445Cys	rs1254493611	missense variant	-	NC_000007.14:g.92117061T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro447Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92117055G>T	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Ala450Val	rs776078855	missense variant	-	NC_000007.14:g.92117046G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg452His	rs528934873	missense variant	-	NC_000007.14:g.92113840C>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg452Cys	rs779786966	missense variant	-	NC_000007.14:g.92113841G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg452Ser	rs779786966	missense variant	-	NC_000007.14:g.92113841G>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.His453Asn	rs1355666477	missense variant	-	NC_000007.14:g.92113838G>T	TOPMed
CYP51A1	A0A0C4DFL7	p.Arg454His	rs542915180	missense variant	-	NC_000007.14:g.92113834C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg454Cys	rs764899491	missense variant	-	NC_000007.14:g.92113835G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile456Thr	rs1449788005	missense variant	-	NC_000007.14:g.92113828A>G	gnomAD
CYP51A1	A0A0C4DFL7	p.Glu458Lys	rs1159509770	missense variant	-	NC_000007.14:g.92113823C>T	gnomAD
CYP51A1	A0A0C4DFL7	p.Glu458GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.92113822_92113823insC	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Asn459Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92113819T>G	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Tyr462Asn	rs563098505	missense variant	-	NC_000007.14:g.92113811A>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Tyr462Cys	rs1274304469	missense variant	-	NC_000007.14:g.92113810T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Tyr462Asp	rs563098505	missense variant	-	NC_000007.14:g.92113811A>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Tyr462His	rs563098505	missense variant	-	NC_000007.14:g.92113811A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Val463Ile	rs771331933	missense variant	-	NC_000007.14:g.92113808C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gln464His	rs749505034	missense variant	-	NC_000007.14:g.92113803T>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Lys466Glu	rs1203413597	missense variant	-	NC_000007.14:g.92113799T>C	TOPMed
CYP51A1	A0A0C4DFL7	p.Lys466Arg	rs55756240	missense variant	-	NC_000007.14:g.92113798T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Thr467Lys	rs748115797	missense variant	-	NC_000007.14:g.92113795G>T	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Thr467Ile	rs748115797	missense variant	-	NC_000007.14:g.92113795G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Ile468Val	rs1258756687	missense variant	-	NC_000007.14:g.92113793T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Trp469Cys	rs780062271	missense variant	-	NC_000007.14:g.92113788C>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Thr471Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92113783G>A	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Met472Val	rs1322293569	missense variant	-	NC_000007.14:g.92113781T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Arg474His	rs1046740950	missense variant	-	NC_000007.14:g.92113774C>T	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg474Pro	rs1046740950	missense variant	-	NC_000007.14:g.92113774C>G	TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Leu480Phe	rs1433918477	missense variant	-	NC_000007.14:g.92113757G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Ile481Thr	rs145784242	missense variant	-	NC_000007.14:g.92113753A>G	ESP,TOPMed
CYP51A1	A0A0C4DFL7	p.Ile481Phe	rs756970996	missense variant	-	NC_000007.14:g.92113754T>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Asp482Val	rs763598087	missense variant	-	NC_000007.14:g.92113750T>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Gly483Val	COSM3883344	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92113747C>A	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Gly483Arg	rs1416184857	missense variant	-	NC_000007.14:g.92113748C>T	TOPMed
CYP51A1	A0A0C4DFL7	p.Phe485Leu	rs577654665	missense variant	-	NC_000007.14:g.92113740A>T	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Pro486Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.92113738G>A	NCI-TCGA
CYP51A1	A0A0C4DFL7	p.Val488Leu	rs1339561444	missense variant	-	NC_000007.14:g.92113733C>G	TOPMed
CYP51A1	A0A0C4DFL7	p.Asn489Thr	COSM1092993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.92113729T>G	NCI-TCGA Cosmic
CYP51A1	A0A0C4DFL7	p.Thr492Ile	rs1227488093	missense variant	-	NC_000007.14:g.92113720G>A	TOPMed
CYP51A1	A0A0C4DFL7	p.Thr492Ala	rs768113032	missense variant	-	NC_000007.14:g.92113721T>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Met493Val	rs749633381	missense variant	-	NC_000007.14:g.92113718T>C	gnomAD
CYP51A1	A0A0C4DFL7	p.Thr496Ile	rs760102740	missense variant	-	NC_000007.14:g.92113708G>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Asn499Tyr	rs1211444067	missense variant	-	NC_000007.14:g.92113700T>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Pro500Ser	rs763338165	missense variant	-	NC_000007.14:g.92113697G>A	ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Pro500Arg	rs773579832	missense variant	-	NC_000007.14:g.92113696G>C	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg503Cys	rs538826307	missense variant	-	NC_000007.14:g.92113688G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg503His	rs573070525	missense variant	-	NC_000007.14:g.92113687C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg506Gln	rs776540678	missense variant	-	NC_000007.14:g.92113678C>T	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Arg506Ter	rs1371070288	stop gained	-	NC_000007.14:g.92113679G>A	gnomAD
CYP51A1	A0A0C4DFL7	p.Arg507Lys	rs553164028	missense variant	-	NC_000007.14:g.92113675C>T	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ser508Thr	rs202233563	missense variant	-	NC_000007.14:g.92113673A>T	1000Genomes,ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ter510Leu	rs757058637	stop lost	-	NC_000007.14:g.92113666C>A	ExAC,gnomAD
CYP51A1	A0A0C4DFL7	p.Ter510Leu	RCV000762457	stop lost	-	NC_000007.14:g.92113666C>A	ClinVar
INSIG2	A0A0C4DGZ4	p.Ala2Thr	rs137964264	missense variant	-	NC_000002.12:g.118096560G>A	ESP,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Ser8Pro	rs1471756237	missense variant	-	NC_000002.12:g.118096578T>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Pro9Arg	rs767939848	missense variant	-	NC_000002.12:g.118096582C>G	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Gly10Arg	rs776015789	missense variant	-	NC_000002.12:g.118096584G>A	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Lys13Arg	rs1294070723	missense variant	-	NC_000002.12:g.118096594A>G	TOPMed
INSIG2	A0A0C4DGZ4	p.Cys14Ser	rs370685389	missense variant	-	NC_000002.12:g.118096596T>A	ESP,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Tyr17Cys	rs1313701209	missense variant	-	NC_000002.12:g.118096606A>G	gnomAD
INSIG2	A0A0C4DGZ4	p.Ile18Val	rs913313376	missense variant	-	NC_000002.12:g.118096608A>G	gnomAD
INSIG2	A0A0C4DGZ4	p.Ser20Pro	rs1280651218	missense variant	-	NC_000002.12:g.118096614T>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Ser20Phe	rs765960423	missense variant	-	NC_000002.12:g.118096615C>T	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Ser23Cys	rs1422770618	missense variant	-	NC_000002.12:g.118096623A>T	TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Gln24Arg	rs922095354	missense variant	-	NC_000002.12:g.118096627A>G	-
INSIG2	A0A0C4DGZ4	p.Ile30Val	rs1203328944	missense variant	-	NC_000002.12:g.118096644A>G	gnomAD
INSIG2	A0A0C4DGZ4	p.Val34Met	rs781017559	missense variant	-	NC_000002.12:g.118096656G>A	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Ile38Thr	rs748170040	missense variant	-	NC_000002.12:g.118096669T>C	ExAC
INSIG2	A0A0C4DGZ4	p.Val40Leu	rs765415653	missense variant	-	NC_000002.12:g.118096674G>T	TOPMed
INSIG2	A0A0C4DGZ4	p.Leu42Ile	rs1183820435	missense variant	-	NC_000002.12:g.118096680C>A	TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Leu44Phe	rs756111660	missense variant	-	NC_000002.12:g.118096688A>C	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Ile51Val	rs150499979	missense variant	-	NC_000002.12:g.118096707A>G	ESP,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Thr56Met	rs749320625	missense variant	-	NC_000002.12:g.118096723C>T	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Pro60Ser	rs746239528	missense variant	-	NC_000002.12:g.118096734C>T	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Ser65Gly	rs775687117	missense variant	-	NC_000002.12:g.118096749A>G	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Ile66Thr	rs1223089450	missense variant	-	NC_000002.12:g.118096753T>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Ile66Val	rs761312280	missense variant	-	NC_000002.12:g.118096752A>G	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Val73Ala	rs1369815922	missense variant	-	NC_000002.12:g.118096774T>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Pro74Leu	rs764572574	missense variant	-	NC_000002.12:g.118096777C>T	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Cys77Tyr	rs568055123	missense variant	-	NC_000002.12:g.118096786G>A	gnomAD
INSIG2	A0A0C4DGZ4	p.Thr79Met	rs745585272	missense variant	-	NC_000002.12:g.118096792C>T	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Val83Leu	rs184611175	missense variant	-	NC_000002.12:g.118103199G>T	1000Genomes,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Val83Leu	rs184611175	missense variant	-	NC_000002.12:g.118103199G>C	1000Genomes,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Ile91Met	rs1277584797	missense variant	-	NC_000002.12:g.118103225T>G	TOPMed
INSIG2	A0A0C4DGZ4	p.His94Leu	rs770464107	missense variant	-	NC_000002.12:g.118103233A>T	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.His94Arg	rs770464107	missense variant	-	NC_000002.12:g.118103233A>G	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Leu95Ile	rs1295168236	missense variant	-	NC_000002.12:g.118103235C>A	gnomAD
INSIG2	A0A0C4DGZ4	p.Glu97Gln	rs773707343	missense variant	-	NC_000002.12:g.118103241G>C	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.His99Asn	rs1248242660	missense variant	-	NC_000002.12:g.118103247C>A	gnomAD
INSIG2	A0A0C4DGZ4	p.Arg110Trp	rs750935813	missense variant	-	NC_000002.12:g.118103280C>T	TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Cys111Arg	rs752553205	missense variant	-	NC_000002.12:g.118103283T>C	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Val112Ile	rs1457764901	missense variant	-	NC_000002.12:g.118103286G>A	TOPMed
INSIG2	A0A0C4DGZ4	p.Phe115Val	rs1486743095	missense variant	-	NC_000002.12:g.118103295T>G	gnomAD
INSIG2	A0A0C4DGZ4	p.Lys124Arg	rs1463244563	missense variant	-	NC_000002.12:g.118106738A>G	TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Val125Leu	rs765017477	missense variant	-	NC_000002.12:g.118106740G>C	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Val125Met	rs765017477	missense variant	-	NC_000002.12:g.118106740G>A	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Asp128Gly	rs1410116887	missense variant	-	NC_000002.12:g.118106750A>G	TOPMed
INSIG2	A0A0C4DGZ4	p.Asp128Asn	rs758358013	missense variant	-	NC_000002.12:g.118106749G>A	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Asn129Ser	rs368860816	missense variant	-	NC_000002.12:g.118106753A>G	ESP,TOPMed
INSIG2	A0A0C4DGZ4	p.Asn130Asp	rs766653153	missense variant	-	NC_000002.12:g.118106755A>G	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Ile131Thr	rs1369555575	missense variant	-	NC_000002.12:g.118106759T>C	TOPMed
INSIG2	A0A0C4DGZ4	p.Ile131Leu	rs751817363	missense variant	-	NC_000002.12:g.118106758A>T	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Gln132Arg	rs1158793570	missense variant	-	NC_000002.12:g.118106762A>G	gnomAD
INSIG2	A0A0C4DGZ4	p.Leu133Phe	rs1410272516	missense variant	-	NC_000002.12:g.118106766G>T	gnomAD
INSIG2	A0A0C4DGZ4	p.Leu137Gln	rs1378159915	missense variant	-	NC_000002.12:g.118106777T>A	TOPMed
INSIG2	A0A0C4DGZ4	p.Ile142Thr	rs781590512	missense variant	-	NC_000002.12:g.118106792T>C	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Trp146Ter	rs1224310333	stop gained	-	NC_000002.12:g.118106804G>A	gnomAD
INSIG2	A0A0C4DGZ4	p.Arg150Ser	rs756662128	missense variant	-	NC_000002.12:g.118106817A>C	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Leu157Ile	rs771525021	missense variant	-	NC_000002.12:g.118106836C>A	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Phe163Leu	rs1234150197	missense variant	-	NC_000002.12:g.118106854T>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Thr166Ile	rs746718152	missense variant	-	NC_000002.12:g.118106864C>T	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Val167Met	rs768419362	missense variant	-	NC_000002.12:g.118106866G>A	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Val168Phe	rs776572259	missense variant	-	NC_000002.12:g.118106869G>T	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Val168Ile	rs776572259	missense variant	-	NC_000002.12:g.118106869G>A	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Thr169Ile	rs765241048	missense variant	-	NC_000002.12:g.118106873C>T	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Tyr174Cys	rs1310945245	missense variant	-	NC_000002.12:g.118106888A>G	TOPMed
INSIG2	A0A0C4DGZ4	p.Gly176Asp	rs766415130	missense variant	-	NC_000002.12:g.118106894G>A	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Ser182Thr	rs759566515	missense variant	-	NC_000002.12:g.118107097T>A	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Tyr187Cys	rs752958767	missense variant	-	NC_000002.12:g.118107113A>G	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Arg189His	rs963738936	missense variant	-	NC_000002.12:g.118107119G>A	TOPMed
INSIG2	A0A0C4DGZ4	p.Arg189Gly	rs760931206	missense variant	-	NC_000002.12:g.118107118C>G	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Arg189Cys	rs760931206	missense variant	-	NC_000002.12:g.118107118C>T	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Ser190Pro	rs1362182528	missense variant	-	NC_000002.12:g.118107121T>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Ile195Leu	rs1223949239	missense variant	-	NC_000002.12:g.118107136A>T	TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Ile195Val	rs1223949239	missense variant	-	NC_000002.12:g.118107136A>G	TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Phe196Cys	rs1297313892	missense variant	-	NC_000002.12:g.118107140T>G	gnomAD
INSIG2	A0A0C4DGZ4	p.Gly199Ter	rs764425108	stop gained	-	NC_000002.12:g.118107148G>T	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Ile201Thr	rs1242930218	missense variant	-	NC_000002.12:g.118107155T>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Ile201Val	rs577648785	missense variant	-	NC_000002.12:g.118107154A>G	1000Genomes,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Met203Thr	rs1242380708	missense variant	-	NC_000002.12:g.118107161T>C	TOPMed
INSIG2	A0A0C4DGZ4	p.Met203Val	rs151242514	missense variant	-	NC_000002.12:g.118107160A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Ile206Thr	rs1387209691	missense variant	-	NC_000002.12:g.118107170T>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Arg208Gln	rs1163800913	missense variant	-	NC_000002.12:g.118107176G>A	gnomAD
INSIG2	A0A0C4DGZ4	p.Arg208Ter	rs751135931	stop gained	-	NC_000002.12:g.118107175C>T	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Ala211Glu	rs141338315	missense variant	-	NC_000002.12:g.118107185C>A	ESP,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Ala211Thr	rs1320109511	missense variant	-	NC_000002.12:g.118107184G>A	gnomAD
INSIG2	A0A0C4DGZ4	p.Met212Val	rs747802502	missense variant	-	NC_000002.12:g.118107187A>G	ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Met212Thr	rs1317932981	missense variant	-	NC_000002.12:g.118107188T>C	TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Tyr213His	rs1440606245	missense variant	-	NC_000002.12:g.118108281T>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Glu214Lys	rs1252225280	missense variant	-	NC_000002.12:g.118108284G>A	gnomAD
INSIG2	A0A0C4DGZ4	p.Cys215Ter	rs780904693	stop gained	-	NC_000002.12:g.118108289T>A	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Lys216Thr	rs1302156745	missense variant	-	NC_000002.12:g.118108291A>C	TOPMed
INSIG2	A0A0C4DGZ4	p.Ile218Phe	rs144954380	missense variant	-	NC_000002.12:g.118108296A>T	ESP,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Ala219Thr	rs76427425	missense variant	-	NC_000002.12:g.118108299G>A	1000Genomes,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Ala219Ser	rs76427425	missense variant	-	NC_000002.12:g.118108299G>T	1000Genomes,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Asn221Ser	rs538623329	missense variant	-	NC_000002.12:g.118108307A>G	1000Genomes,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Arg224Gly	rs1412088853	missense variant	-	NC_000002.12:g.118108315A>G	gnomAD
INSIG2	A0A0C4DGZ4	p.Glu226Asp	rs143040544	missense variant	-	NC_000002.12:g.118108323A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INSIG2	A0A0C4DGZ4	p.Lys230Arg	rs771994823	missense variant	-	NC_000002.12:g.118108334A>G	ExAC,gnomAD
INSIG2	A0A0C4DGZ4	p.Tyr231Phe	rs1285658895	missense variant	-	NC_000002.12:g.118108337A>T	gnomAD
INSIG2	A0A0C4DGZ4	p.Leu232Pro	rs747054304	missense variant	-	NC_000002.12:g.118108340T>C	ExAC
INSIG2	A0A0C4DGZ4	p.Arg238Ser	rs1197415815	missense variant	-	NC_000002.12:g.118108359A>C	gnomAD
INSIG2	A0A0C4DGZ4	p.Ter239Arg	rs768782150	stop lost	-	NC_000002.12:g.118108360T>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Pro5Gln	rs756816553	missense variant	-	NC_000010.11:g.68988846C>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Pro5Leu	rs756816553	missense variant	-	NC_000010.11:g.68988846C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Trp6Gly	rs1358858905	missense variant	-	NC_000010.11:g.68988848T>G	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Trp6Ter	rs545527324	stop gained	-	NC_000010.11:g.68988850G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Glu8Ala	rs1265597786	missense variant	-	NC_000010.11:g.68988855A>C	gnomAD
KIFBP	A0A1B0GUA3	p.Cys10Phe	rs553587755	missense variant	-	NC_000010.11:g.68988861G>T	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Phe13Leu	rs747405986	missense variant	-	NC_000010.11:g.68988871C>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala15Gly	rs777015827	missense variant	-	NC_000010.11:g.68988876C>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala15Val	rs777015827	missense variant	-	NC_000010.11:g.68988876C>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala16Val	rs1481458834	missense variant	-	NC_000010.11:g.68988879C>T	TOPMed
KIFBP	A0A1B0GUA3	p.Ala18Ser	rs1181708378	missense variant	-	NC_000010.11:g.68988884G>T	TOPMed
KIFBP	A0A1B0GUA3	p.Ser20Pro	rs770113692	missense variant	-	NC_000010.11:g.68988890T>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Arg21Trp	rs1471707597	missense variant	-	NC_000010.11:g.68988893C>T	TOPMed
KIFBP	A0A1B0GUA3	p.Arg21Pro	rs1429970950	missense variant	-	NC_000010.11:g.68988894G>C	gnomAD
KIFBP	A0A1B0GUA3	p.Glu23Gly	rs148768851	missense variant	-	NC_000010.11:g.68988900A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.His25Pro	rs775247494	missense variant	-	NC_000010.11:g.68988906A>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.His25Arg	rs775247494	missense variant	-	NC_000010.11:g.68988906A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Tyr33His	rs1324154278	missense variant	-	NC_000010.11:g.68988929T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Lys36Thr	rs763921922	missense variant	-	NC_000010.11:g.68988939A>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala39Gly	rs372223602	missense variant	-	NC_000010.11:g.68988948C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala39Thr	rs1285747347	missense variant	-	NC_000010.11:g.68988947G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Ala39Val	rs372223602	missense variant	-	NC_000010.11:g.68988948C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg40Trp	rs749960762	missense variant	-	NC_000010.11:g.68988950C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala41Pro	rs757781374	missense variant	-	NC_000010.11:g.68988953G>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu43Val	rs1283885170	missense variant	-	NC_000010.11:g.68988959C>G	gnomAD
KIFBP	A0A1B0GUA3	p.Ala48Gly	rs1226222903	missense variant	-	NC_000010.11:g.68988975C>G	TOPMed
KIFBP	A0A1B0GUA3	p.Ala48Pro	rs747425094	missense variant	-	NC_000010.11:g.68988974G>C	ExAC
KIFBP	A0A1B0GUA3	p.Leu50Arg	rs897870475	missense variant	-	NC_000010.11:g.68988981T>G	TOPMed
KIFBP	A0A1B0GUA3	p.Gly51Arg	rs1041795333	missense variant	-	NC_000010.11:g.68988983G>C	TOPMed
KIFBP	A0A1B0GUA3	p.Gly51Ser	rs1041795333	missense variant	-	NC_000010.11:g.68988983G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Pro52Leu	rs755489046	missense variant	-	NC_000010.11:g.68988987C>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Pro52Ser	rs1480034789	missense variant	-	NC_000010.11:g.68988986C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Pro54Thr	rs1406956910	missense variant	-	NC_000010.11:g.68988992C>A	TOPMed
KIFBP	A0A1B0GUA3	p.Asp56Asn	rs1426169338	missense variant	-	NC_000010.11:g.68988998G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Glu57Lys	rs770201721	missense variant	-	NC_000010.11:g.68989001G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Glu59Lys	rs773512678	missense variant	-	NC_000010.11:g.68989007G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg60Trp	rs749414163	missense variant	-	NC_000010.11:g.68989010C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Pro61Arg	rs371300766	missense variant	-	NC_000010.11:g.68989014C>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala63Gly	rs774462618	missense variant	-	NC_000010.11:g.68989020C>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala63Val	rs774462618	missense variant	-	NC_000010.11:g.68989020C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Glu64Lys	rs935579771	missense variant	-	NC_000010.11:g.68989022G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Gly66Ser	rs2255607	missense variant	-	NC_000010.11:g.68989028G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gly66Cys	rs2255607	missense variant	-	NC_000010.11:g.68989028G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gly66Arg	rs2255607	missense variant	-	NC_000010.11:g.68989028G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Pro67Thr	rs764872990	missense variant	-	NC_000010.11:g.68989031C>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Pro67Gln	rs750004526	missense variant	-	NC_000010.11:g.68989032C>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gly68Arg	rs201068859	missense variant	-	NC_000010.11:g.68989034G>C	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gly68Cys	rs201068859	missense variant	-	NC_000010.11:g.68989034G>T	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gly68Asp	rs1206217818	missense variant	-	NC_000010.11:g.68989035G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Gly68Ser	rs201068859	missense variant	-	NC_000010.11:g.68989034G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala69Val	rs1490219246	missense variant	-	NC_000010.11:g.68989038C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Ala69Thr	rs1292526099	missense variant	-	NC_000010.11:g.68989037G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Gly70Asp	rs1393955776	missense variant	-	NC_000010.11:g.68989041G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Asp71Gly	rs1252658012	missense variant	-	NC_000010.11:g.68989044A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Pro77Leu	rs755612919	missense variant	-	NC_000010.11:g.68989062C>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Pro77Ser	rs1180741256	missense variant	-	NC_000010.11:g.68989061C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Pro77Arg	rs755612919	missense variant	-	NC_000010.11:g.68989062C>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Pro77Gln	rs755612919	missense variant	-	NC_000010.11:g.68989062C>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala78Thr	rs1163865456	missense variant	-	NC_000010.11:g.68989064G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Glu79Lys	rs1247242658	missense variant	-	NC_000010.11:g.68989067G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Glu84Asp	rs192748736	missense variant	-	NC_000010.11:g.68989084G>T	1000Genomes
KIFBP	A0A1B0GUA3	p.Glu84Lys	rs121434515	missense variant	-	NC_000010.11:g.68989082G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Glu84Ter	rs121434515	stop gained	-	NC_000010.11:g.68989082G>T	gnomAD
KIFBP	A0A1B0GUA3	p.Gly85Arg	rs778077029	missense variant	-	NC_000010.11:g.68989085G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Gly85Trp	rs778077029	missense variant	-	NC_000010.11:g.68989085G>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Pro86Ser	rs749517204	missense variant	-	NC_000010.11:g.68989088C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Val87Phe	rs1328531861	missense variant	-	NC_000010.11:g.68989091G>T	gnomAD
KIFBP	A0A1B0GUA3	p.Ala88Thr	rs1014883362	missense variant	-	NC_000010.11:g.68989094G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Gln89Lys	rs1387463152	missense variant	-	NC_000010.11:g.68989097C>A	TOPMed
KIFBP	A0A1B0GUA3	p.Gln89Arg	rs1334373963	missense variant	-	NC_000010.11:g.68989098A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Arg90Ter	rs121434514	stop gained	-	NC_000010.11:g.68989100C>T	-
KIFBP	A0A1B0GUA3	p.Arg90Gln	rs992870301	missense variant	-	NC_000010.11:g.68989101G>A	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu94Val	rs1316056840	missense variant	-	NC_000010.11:g.68989112C>G	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile97Val	rs1358806567	missense variant	-	NC_000010.11:g.68989121A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Glu98Lys	rs1383187078	missense variant	-	NC_000010.11:g.68989124G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Phe99Val	rs774361181	missense variant	-	NC_000010.11:g.68989127T>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Leu101Phe	rs1339934594	missense variant	-	NC_000010.11:g.68989133C>T	gnomAD
KIFBP	A0A1B0GUA3	p.His105Arg	rs1219404864	missense variant	-	NC_000010.11:g.68989146A>G	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile106Thr	rs912912274	missense variant	-	NC_000010.11:g.68989149T>C	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Asp107Tyr	rs745948039	missense variant	-	NC_000010.11:g.68989151G>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Asp107Asn	rs745948039	missense variant	-	NC_000010.11:g.68989151G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Thr108Ala	rs768592975	missense variant	-	NC_000010.11:g.68989154A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Glu109Asp	rs761628784	missense variant	-	NC_000010.11:g.68989159G>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Leu111Arg	rs1462900645	missense variant	-	NC_000010.11:g.68989164T>G	gnomAD
KIFBP	A0A1B0GUA3	p.Ser112Leu	rs1167874163	missense variant	-	NC_000010.11:g.68989167C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Gly114Arg	rs1262056242	missense variant	-	NC_000010.11:g.68989172G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Glu116Gly	rs769531440	missense variant	-	NC_000010.11:g.68989179A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.His117Pro	rs773038576	missense variant	-	NC_000010.11:g.68989182A>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.His117Arg	rs773038576	missense variant	-	NC_000010.11:g.68989182A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.His117Gln	rs1030239043	missense variant	-	NC_000010.11:g.68989183C>A	gnomAD
KIFBP	A0A1B0GUA3	p.His117Tyr	rs1337631572	missense variant	-	NC_000010.11:g.68989181C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Lys120Asn	rs1394527585	missense variant	-	NC_000010.11:g.68989192A>C	gnomAD
KIFBP	A0A1B0GUA3	p.Arg123Trp	rs372695759	missense variant	-	NC_000010.11:g.68989199C>T	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu124Arg	rs986393623	missense variant	-	NC_000010.11:g.68989203T>G	TOPMed
KIFBP	A0A1B0GUA3	p.Arg126Leu	rs1308188448	missense variant	-	NC_000010.11:g.68989209G>T	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg127Lys	rs759061022	missense variant	-	NC_000010.11:g.68989212G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Arg127Gly	rs751092379	missense variant	-	NC_000010.11:g.68989211A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Tyr128Cys	rs768145533	missense variant	-	NC_000010.11:g.68989215A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg129Leu	rs1459656007	missense variant	-	NC_000010.11:g.68989218G>T	gnomAD
KIFBP	A0A1B0GUA3	p.Arg129Gly	rs753204138	missense variant	-	NC_000010.11:g.68989217C>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.His132Gln	rs540172119	missense variant	-	NC_000010.11:g.68989228C>G	1000Genomes,ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Cys134Gly	rs200399485	missense variant	-	NC_000010.11:g.68989232T>G	1000Genomes
KIFBP	A0A1B0GUA3	p.Ile135Met	rs143950359	missense variant	-	NC_000010.11:g.68989237C>G	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile135Ser	rs1159688038	missense variant	-	NC_000010.11:g.68989236T>G	gnomAD
KIFBP	A0A1B0GUA3	p.Ile135Val	rs757478269	missense variant	-	NC_000010.11:g.68989235A>G	ExAC
KIFBP	A0A1B0GUA3	p.Ser136Thr	rs772098884	missense variant	-	NC_000010.11:g.68989238T>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Leu137Val	rs1476325494	missense variant	-	NC_000010.11:g.68989241C>G	TOPMed
KIFBP	A0A1B0GUA3	p.Ile139Asn	rs1050330380	missense variant	-	NC_000010.11:g.68989248T>A	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile139Thr	rs1050330380	missense variant	-	NC_000010.11:g.68989248T>C	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile139Val	rs781131113	missense variant	-	NC_000010.11:g.68989247A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Gln140Arg	rs529028747	missense variant	-	NC_000010.11:g.68989251A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala141Gly	rs865809614	missense variant	-	NC_000010.11:g.68989254C>G	gnomAD
KIFBP	A0A1B0GUA3	p.Ala141Val	rs865809614	missense variant	-	NC_000010.11:g.68989254C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Gln142Arg	rs1290898365	missense variant	-	NC_000010.11:g.68989257A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Arg143Ser	rs928882849	missense variant	-	NC_000010.11:g.68995206G>T	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Met148Val	rs1164577339	missense variant	-	NC_000010.11:g.68995219A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Pro150Ser	rs1029182558	missense variant	-	NC_000010.11:g.68995225C>T	TOPMed
KIFBP	A0A1B0GUA3	p.Arg151Ser	rs955112124	missense variant	-	NC_000010.11:g.68995230G>C	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile155Leu	rs532927372	missense variant	-	NC_000010.11:g.68995240A>C	1000Genomes,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile155Phe	rs532927372	missense variant	-	NC_000010.11:g.68995240A>T	1000Genomes,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg156His	rs1040024296	missense variant	-	NC_000010.11:g.68995244G>A	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu157Val	rs540045403	missense variant	-	NC_000010.11:g.68995246C>G	1000Genomes,TOPMed
KIFBP	A0A1B0GUA3	p.Arg158His	rs939730860	missense variant	-	NC_000010.11:g.68995250G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Lys162Glu	rs1210027419	missense variant	-	NC_000010.11:g.68995261A>G	TOPMed
KIFBP	A0A1B0GUA3	p.Gly165Glu	rs972371969	missense variant	-	NC_000010.11:g.68995271G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Asn168Asp	rs769682005	missense variant	-	NC_000010.11:g.69000424A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Glu179Asp	rs749043896	missense variant	-	NC_000010.11:g.69000459A>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ile180Leu	rs770722517	missense variant	-	NC_000010.11:g.69000460A>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ile180Val	rs770722517	missense variant	-	NC_000010.11:g.69000460A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala185Thr	rs1387131459	missense variant	-	NC_000010.11:g.69000475G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Glu188Gln	rs774262677	missense variant	-	NC_000010.11:g.69000484G>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ser190Ter	rs1302467817	stop gained	-	NC_000010.11:g.69000491C>A	gnomAD
KIFBP	A0A1B0GUA3	p.Ala192Val	rs1347981384	missense variant	-	NC_000010.11:g.69000497C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Gln196His	rs1044770486	missense variant	-	NC_000010.11:g.69000510G>T	TOPMed
KIFBP	A0A1B0GUA3	p.Met198Leu	rs200596309	missense variant	-	NC_000010.11:g.69000514A>T	TOPMed
KIFBP	A0A1B0GUA3	p.Met198Val	rs200596309	missense variant	-	NC_000010.11:g.69000514A>G	TOPMed
KIFBP	A0A1B0GUA3	p.Met198Thr	rs62625033	missense variant	-	NC_000010.11:g.69000515T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Lys199Glu	rs1257801340	missense variant	-	NC_000010.11:g.69000517A>G	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Glu200Asp	rs144317643	missense variant	-	NC_000010.11:g.69000522G>C	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Val201Phe	rs757109189	missense variant	-	NC_000010.11:g.69005046G>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Leu206Phe	rs1047715298	missense variant	-	NC_000010.11:g.69005061C>T	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Thr209Pro	rs112642097	missense variant	-	NC_000010.11:g.69005070A>C	1000Genomes,ESP,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Thr209Ala	rs112642097	missense variant	-	NC_000010.11:g.69005070A>G	1000Genomes,ESP,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg211His	rs139483880	missense variant	-	NC_000010.11:g.69005077G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg211Cys	rs200098813	missense variant	-	NC_000010.11:g.69005076C>T	1000Genomes,ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Phe212Cys	rs1197071935	missense variant	-	NC_000010.11:g.69005080T>G	gnomAD
KIFBP	A0A1B0GUA3	p.Leu213Ile	rs771863463	missense variant	-	NC_000010.11:g.69005082C>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Glu215Ala	rs1464792155	missense variant	-	NC_000010.11:g.69005089A>C	gnomAD
KIFBP	A0A1B0GUA3	p.Glu217Gly	rs926983945	missense variant	-	NC_000010.11:g.69005095A>G	TOPMed
KIFBP	A0A1B0GUA3	p.Thr220Ser	rs377072770	missense variant	-	NC_000010.11:g.69005104C>G	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Glu221Lys	rs768162436	missense variant	-	NC_000010.11:g.69005106G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Arg224Ile	rs1157358651	missense variant	-	NC_000010.11:g.69005116G>T	TOPMed
KIFBP	A0A1B0GUA3	p.Ser225Ter	rs730882150	stop gained	-	NC_000010.11:g.69005119C>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Val231Ile	rs746722910	missense variant	-	NC_000010.11:g.69005742G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Val231Phe	rs746722910	missense variant	-	NC_000010.11:g.69005742G>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Tyr232Cys	rs1346531121	missense variant	-	NC_000010.11:g.69005746A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Tyr237His	rs1383529353	missense variant	-	NC_000010.11:g.69005760T>C	TOPMed
KIFBP	A0A1B0GUA3	p.Tyr238Asp	rs1224561733	missense variant	-	NC_000010.11:g.69005763T>G	gnomAD
KIFBP	A0A1B0GUA3	p.Ala240Val	rs768162943	missense variant	-	NC_000010.11:g.69005770C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Gln241Ter	rs1297155405	stop gained	-	NC_000010.11:g.69005772C>T	TOPMed
KIFBP	A0A1B0GUA3	p.Gln241Pro	rs935472274	missense variant	-	NC_000010.11:g.69005773A>C	TOPMed
KIFBP	A0A1B0GUA3	p.Tyr243Asp	rs1487370056	missense variant	-	NC_000010.11:g.69005778T>G	gnomAD
KIFBP	A0A1B0GUA3	p.Gln244Arg	rs370670715	missense variant	-	NC_000010.11:g.69005782A>G	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu246Pro	rs1289198105	missense variant	-	NC_000010.11:g.69005788T>C	TOPMed
KIFBP	A0A1B0GUA3	p.Glu247Lys	rs747600573	missense variant	-	NC_000010.11:g.69005790G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Met248Ile	rs368916440	missense variant	-	NC_000010.11:g.69005795G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala252Thr	rs781257334	missense variant	-	NC_000010.11:g.69005805G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala253Thr	rs1388953594	missense variant	-	NC_000010.11:g.69005808G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Ala253Val	rs1365348518	missense variant	-	NC_000010.11:g.69005809C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Tyr255His	rs191873145	missense variant	-	NC_000010.11:g.69005814T>C	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Cys256Ser	rs1377923102	missense variant	-	NC_000010.11:g.69005817T>A	gnomAD
KIFBP	A0A1B0GUA3	p.Ser258Gly	rs759865249	missense variant	-	NC_000010.11:g.69005823A>G	ExAC
KIFBP	A0A1B0GUA3	p.Arg262His	rs760604068	missense variant	-	NC_000010.11:g.69005836G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg262Cys	rs752833136	missense variant	-	NC_000010.11:g.69005835C>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg262Leu	rs760604068	missense variant	-	NC_000010.11:g.69005836G>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gln263His	rs997199629	missense variant	-	NC_000010.11:g.69005840G>C	TOPMed
KIFBP	A0A1B0GUA3	p.Glu265Gln	rs547582634	missense variant	-	NC_000010.11:g.69005844G>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Glu265Lys	rs547582634	missense variant	-	NC_000010.11:g.69005844G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala268Gly	rs141052402	missense variant	-	NC_000010.11:g.69005854C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Tyr269Asp	rs1016134527	missense variant	-	NC_000010.11:g.69005856T>G	TOPMed
KIFBP	A0A1B0GUA3	p.His270Tyr	rs140826893	missense variant	-	NC_000010.11:g.69005859C>T	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile272Met	rs1248349112	missense variant	-	NC_000010.11:g.69005867A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Glu273Lys	rs1296096605	missense variant	-	NC_000010.11:g.69005868G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Ile276Val	rs1355494591	missense variant	-	NC_000010.11:g.69005877A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Asn277Ser	rs780651935	missense variant	-	NC_000010.11:g.69005881A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala279Val	rs1252367280	missense variant	-	NC_000010.11:g.69005887C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Leu281Ser	rs1177613996	missense variant	-	NC_000010.11:g.69005893T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Ser282Ala	rs747701445	missense variant	-	NC_000010.11:g.69005895T>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Gln283Ter	rs1386003298	stop gained	-	NC_000010.11:g.69005898C>T	TOPMed
KIFBP	A0A1B0GUA3	p.Tyr285His	rs572485003	missense variant	-	NC_000010.11:g.69005904T>C	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Tyr285Asn	rs572485003	missense variant	-	NC_000010.11:g.69005904T>A	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile286Val	rs749110699	missense variant	-	NC_000010.11:g.69005907A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Lys288Arg	rs1162016885	missense variant	-	NC_000010.11:g.69005914A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Leu289Gln	rs766214681	missense variant	-	NC_000010.11:g.69008842T>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Cys290Tyr	rs149706162	missense variant	-	NC_000010.11:g.69008845G>A	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Met292Val	rs374135003	missense variant	-	NC_000010.11:g.69008850A>G	ESP,ExAC
KIFBP	A0A1B0GUA3	p.Met292Ile	rs1465710834	missense variant	-	NC_000010.11:g.69008852G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Ala294Gly	rs1364436073	missense variant	-	NC_000010.11:g.69008857C>G	gnomAD
KIFBP	A0A1B0GUA3	p.Ala294Thr	rs752246398	missense variant	-	NC_000010.11:g.69008856G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala294Ser	rs752246398	missense variant	-	NC_000010.11:g.69008856G>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.His296Tyr	rs755744684	missense variant	-	NC_000010.11:g.69008862C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.His296Asn	rs755744684	missense variant	-	NC_000010.11:g.69008862C>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ile311Val	rs1376167494	missense variant	-	NC_000010.11:g.69008907A>G	TOPMed
KIFBP	A0A1B0GUA3	p.Ala313Val	rs779217930	missense variant	-	NC_000010.11:g.69008914C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Thr314Ala	rs1261835762	missense variant	-	NC_000010.11:g.69008916A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Thr317Pro	rs201438642	missense variant	-	NC_000010.11:g.69008925A>C	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Thr317Ala	rs201438642	missense variant	-	NC_000010.11:g.69008925A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gly322Arg	rs1213874017	missense variant	-	NC_000010.11:g.69010914G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Val324Ala	rs1261742653	missense variant	-	NC_000010.11:g.69010921T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Pro325Ser	rs941844673	missense variant	-	NC_000010.11:g.69010923C>T	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Glu326Lys	rs149809657	missense variant	-	NC_000010.11:g.69010926G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu327Pro	rs1431618931	missense variant	-	NC_000010.11:g.69010930T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Gln330His	rs918976095	missense variant	-	NC_000010.11:g.69010940A>C	gnomAD
KIFBP	A0A1B0GUA3	p.Lys332Arg	rs753347618	missense variant	-	NC_000010.11:g.69010945A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Glu334Lys	rs76319365	missense variant	-	NC_000010.11:g.69010950G>A	-
KIFBP	A0A1B0GUA3	p.Ile335Thr	rs756713727	missense variant	-	NC_000010.11:g.69010954T>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala336Thr	rs779495747	missense variant	-	NC_000010.11:g.69010956G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Trp339Arg	rs1180857940	missense variant	-	NC_000010.11:g.69010965T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Trp339Cys	rs1437122309	missense variant	-	NC_000010.11:g.69010967G>C	gnomAD
KIFBP	A0A1B0GUA3	p.Trp339Ter	rs1413526451	stop gained	-	NC_000010.11:g.69010966G>A	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Trp339Ser	rs1413526451	missense variant	-	NC_000010.11:g.69010966G>C	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu344Ser	rs746409140	missense variant	-	NC_000010.11:g.69010981T>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Thr345Pro	rs978909163	missense variant	-	NC_000010.11:g.69010983A>C	TOPMed
KIFBP	A0A1B0GUA3	p.Leu346Val	rs200525249	missense variant	-	NC_000010.11:g.69010986C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu346Pro	rs199510149	missense variant	-	NC_000010.11:g.69010987T>C	1000Genomes
KIFBP	A0A1B0GUA3	p.Met347Ile	rs1352329978	missense variant	-	NC_000010.11:g.69010991G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Met347Thr	rs141279010	missense variant	-	NC_000010.11:g.69010990T>C	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala350Thr	rs769013695	missense variant	-	NC_000010.11:g.69010998G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gln351Ter	rs1293340864	stop gained	-	NC_000010.11:g.69011001C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Gln351Glu	rs1293340864	missense variant	-	NC_000010.11:g.69011001C>G	gnomAD
KIFBP	A0A1B0GUA3	p.Asp356Asn	rs749327406	missense variant	-	NC_000010.11:g.69015541G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Asn357Ser	rs771905210	missense variant	-	NC_000010.11:g.69015545A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Asn357Lys	rs374306964	missense variant	-	NC_000010.11:g.69015546C>A	ESP,gnomAD
KIFBP	A0A1B0GUA3	p.Ile358Val	rs1181204651	missense variant	-	NC_000010.11:g.69015547A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Ile358Lys	rs1411453116	missense variant	-	NC_000010.11:g.69015548T>A	gnomAD
KIFBP	A0A1B0GUA3	p.Gly359Glu	rs113952834	missense variant	-	NC_000010.11:g.69015551G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Gly359Arg	rs1430252870	missense variant	-	NC_000010.11:g.69015550G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Gly359Ala	rs113952834	missense variant	-	NC_000010.11:g.69015551G>C	gnomAD
KIFBP	A0A1B0GUA3	p.Leu361Arg	rs775363378	missense variant	-	NC_000010.11:g.69015557T>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Asp362His	rs760482247	missense variant	-	NC_000010.11:g.69015559G>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Asp362Asn	rs760482247	missense variant	-	NC_000010.11:g.69015559G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Asp364Asn	rs916055618	missense variant	-	NC_000010.11:g.69015565G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Ser367Pro	rs1288749960	missense variant	-	NC_000010.11:g.69015574T>C	TOPMed
KIFBP	A0A1B0GUA3	p.Ser367Tyr	rs1446733493	missense variant	-	NC_000010.11:g.69015575C>A	gnomAD
KIFBP	A0A1B0GUA3	p.Leu369Phe	rs776378534	missense variant	-	NC_000010.11:g.69015580C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Arg370Lys	rs761439410	missense variant	-	NC_000010.11:g.69015584G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Lys374Glu	rs764929585	missense variant	-	NC_000010.11:g.69015595A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Lys375Thr	rs762458711	missense variant	-	NC_000010.11:g.69015599A>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Glu379Lys	rs1362774155	missense variant	-	NC_000010.11:g.69015610G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Glu381Gly	rs994920889	missense variant	-	NC_000010.11:g.69015617A>G	TOPMed
KIFBP	A0A1B0GUA3	p.Glu381Lys	rs138090713	missense variant	-	NC_000010.11:g.69015616G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg384Trp	rs755522222	missense variant	-	NC_000010.11:g.69015625C>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg384Gln	rs371267544	missense variant	-	NC_000010.11:g.69015626G>A	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Lys385Gln	rs756300309	missense variant	-	NC_000010.11:g.69015628A>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Lys385Glu	rs756300309	missense variant	-	NC_000010.11:g.69015628A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gln389His	rs138802223	missense variant	-	NC_000010.11:g.69015642G>C	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Phe390Ile	rs374297499	missense variant	-	NC_000010.11:g.69015643T>A	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gly391Glu	rs1245098587	missense variant	-	NC_000010.11:g.69015647G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Gly391Arg	rs1346485433	missense variant	-	NC_000010.11:g.69015646G>A	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gly393Asp	rs1333565207	missense variant	-	NC_000010.11:g.69015653G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Gly393Ser	rs200669180	missense variant	-	NC_000010.11:g.69015652G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Glu394Lys	rs1342924055	missense variant	-	NC_000010.11:g.69015655G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Cys396Ser	rs200179572	missense variant	-	NC_000010.11:g.69015662G>C	1000Genomes
KIFBP	A0A1B0GUA3	p.Ala398Thr	rs770724316	missense variant	-	NC_000010.11:g.69015667G>A	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ile399Val	rs761611047	missense variant	-	NC_000010.11:g.69015670A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ile399Met	rs1276557114	missense variant	-	NC_000010.11:g.69015672C>G	gnomAD
KIFBP	A0A1B0GUA3	p.Ala401Ser	rs776459431	missense variant	-	NC_000010.11:g.69015676G>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala401Thr	rs776459431	missense variant	-	NC_000010.11:g.69015676G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Val402Ile	rs960846058	missense variant	-	NC_000010.11:g.69015679G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Glu404Gly	rs1217236521	missense variant	-	NC_000010.11:g.69015686A>G	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Val406Ala	rs1487268466	missense variant	-	NC_000010.11:g.69015692T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Val406Met	rs886044247	missense variant	-	NC_000010.11:g.69015691G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Leu409Phe	rs371981506	missense variant	-	NC_000010.11:g.69015702G>C	ESP,TOPMed
KIFBP	A0A1B0GUA3	p.Asp413Glu	rs762394220	missense variant	-	NC_000010.11:g.69015714T>A	ExAC,TOPMed
KIFBP	A0A1B0GUA3	p.Arg418Lys	rs1247087961	missense variant	-	NC_000010.11:g.69015728G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Glu419Ter	rs766038589	stop gained	-	NC_000010.11:g.69015730G>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Leu422Phe	rs760190886	missense variant	-	NC_000010.11:g.69015741A>T	ExAC
KIFBP	A0A1B0GUA3	p.Gly424Cys	rs753004563	missense variant	-	NC_000010.11:g.69015745G>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Tyr427Cys	rs756457508	missense variant	-	NC_000010.11:g.69015755A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Lys432Asn	rs754137248	missense variant	-	NC_000010.11:g.69015771A>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Phe435Leu	rs1332083800	missense variant	-	NC_000010.11:g.69015778T>C	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gln436Ter	rs779030658	stop gained	-	NC_000010.11:g.69015781C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ile437Val	rs745934722	missense variant	-	NC_000010.11:g.69015784A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ile437Thr	rs1379196173	missense variant	-	NC_000010.11:g.69015785T>C	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Asp438Tyr	rs1269240713	missense variant	-	NC_000010.11:g.69015787G>T	TOPMed
KIFBP	A0A1B0GUA3	p.Gly439Arg	rs754921517	missense variant	-	NC_000010.11:g.69015790G>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gly439Ala	rs1338360350	missense variant	-	NC_000010.11:g.69015791G>C	TOPMed
KIFBP	A0A1B0GUA3	p.Tyr440Cys	rs1031934038	missense variant	-	NC_000010.11:g.69015794A>G	-
KIFBP	A0A1B0GUA3	p.Val441Ile	rs1285409321	missense variant	-	NC_000010.11:g.69015796G>A	gnomAD
KIFBP	A0A1B0GUA3	p.His444Tyr	rs1351350616	missense variant	-	NC_000010.11:g.69015805C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Ile445Thr	rs377298939	missense variant	-	NC_000010.11:g.69015809T>C	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Val448Ile	rs1450869089	missense variant	-	NC_000010.11:g.69015817G>A	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gln449Glu	rs769584821	missense variant	-	NC_000010.11:g.69015820C>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Gln449Ter	rs769584821	stop gained	-	NC_000010.11:g.69015820C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Asp450Gly	rs772862957	missense variant	-	NC_000010.11:g.69015824A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ser452Gly	rs370902866	missense variant	-	NC_000010.11:g.69015829A>G	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala453Ser	rs770706536	missense variant	-	NC_000010.11:g.69015832G>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Val457Leu	rs774066072	missense variant	-	NC_000010.11:g.69015844G>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Leu458Val	rs373810468	missense variant	-	NC_000010.11:g.69015847C>G	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu458Phe	rs373810468	missense variant	-	NC_000010.11:g.69015847C>T	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Phe460Val	rs1391894394	missense variant	-	NC_000010.11:g.69015853T>G	gnomAD
KIFBP	A0A1B0GUA3	p.Phe461Leu	rs932630326	missense variant	-	NC_000010.11:g.69015856T>C	TOPMed
KIFBP	A0A1B0GUA3	p.Met465Val	rs1402651253	missense variant	-	NC_000010.11:g.69015868A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Arg467Thr	rs764557349	missense variant	-	NC_000010.11:g.69015875G>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg468Gln	rs377744293	missense variant	-	NC_000010.11:g.69015878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg468Trp	rs757532870	missense variant	-	NC_000010.11:g.69015877C>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg474Pro	rs201404470	missense variant	-	NC_000010.11:g.69015896G>C	1000Genomes,ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Arg474Cys	rs750506715	missense variant	-	NC_000010.11:g.69015895C>T	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg474His	rs201404470	missense variant	-	NC_000010.11:g.69015896G>A	1000Genomes,ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala477Val	rs748167932	missense variant	-	NC_000010.11:g.69015905C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Thr483Ser	rs1457900956	missense variant	-	NC_000010.11:g.69015923C>G	gnomAD
KIFBP	A0A1B0GUA3	p.Val484Ile	rs777693937	missense variant	-	NC_000010.11:g.69015925G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Val484Ala	rs1235802814	missense variant	-	NC_000010.11:g.69015926T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Leu486Pro	rs749084385	missense variant	-	NC_000010.11:g.69015932T>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Tyr490Asp	rs774102690	missense variant	-	NC_000010.11:g.69015943T>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Leu492Pro	rs1402950491	missense variant	-	NC_000010.11:g.69015950T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Asn495Ser	rs761310113	missense variant	-	NC_000010.11:g.69015959A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ile498Met	rs1397928504	missense variant	-	NC_000010.11:g.69015969C>G	gnomAD
KIFBP	A0A1B0GUA3	p.Gln499Lys	rs1334941703	missense variant	-	NC_000010.11:g.69015970C>A	gnomAD
KIFBP	A0A1B0GUA3	p.His504Asp	rs764494346	missense variant	-	NC_000010.11:g.69015985C>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Asp508Glu	rs375318030	missense variant	-	NC_000010.11:g.69015999T>A	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Met509Ile	rs762099157	missense variant	-	NC_000010.11:g.69016002G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Asp511Gly	rs1219083406	missense variant	-	NC_000010.11:g.69016007A>G	TOPMed
KIFBP	A0A1B0GUA3	p.Val514Phe	rs1217616883	missense variant	-	NC_000010.11:g.69016015G>T	gnomAD
KIFBP	A0A1B0GUA3	p.Val514Ala	rs933931987	missense variant	-	NC_000010.11:g.69016016T>C	TOPMed
KIFBP	A0A1B0GUA3	p.Ala515Thr	rs147288545	missense variant	-	NC_000010.11:g.69016018G>A	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala517Val	rs766522607	missense variant	-	NC_000010.11:g.69016025C>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Arg519Ser	rs946518833	missense variant	-	NC_000010.11:g.69016032G>T	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu520Arg	rs139261765	missense variant	-	NC_000010.11:g.69016034T>G	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.His526Arg	rs756138362	missense variant	-	NC_000010.11:g.69016052A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.His526Pro	rs756138362	missense variant	-	NC_000010.11:g.69016052A>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.His526Tyr	rs1426204282	missense variant	-	NC_000010.11:g.69016051C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Ile527Met	rs1371483818	missense variant	-	NC_000010.11:g.69016056T>G	gnomAD
KIFBP	A0A1B0GUA3	p.Val528Leu	rs753695346	missense variant	-	NC_000010.11:g.69016057G>T	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Asn532Ser	rs1412898890	missense variant	-	NC_000010.11:g.69016070A>G	TOPMed
KIFBP	A0A1B0GUA3	p.Asn533Lys	rs1404262531	missense variant	-	NC_000010.11:g.69016074T>A	TOPMed
KIFBP	A0A1B0GUA3	p.Ser537Pro	rs1401634537	missense variant	-	NC_000010.11:g.69016084T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Ser537Ter	rs757081898	stop gained	-	NC_000010.11:g.69016085C>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ala538Ser	rs1300021171	missense variant	-	NC_000010.11:g.69016087G>T	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala538Thr	rs1300021171	missense variant	-	NC_000010.11:g.69016087G>A	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu549Arg	rs541494160	missense variant	-	NC_000010.11:g.69016121T>G	1000Genomes,ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Asp551Tyr	rs1233563985	missense variant	-	NC_000010.11:g.69016126G>T	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Asn553Asp	rs779684131	missense variant	-	NC_000010.11:g.69016132A>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Asn553His	rs779684131	missense variant	-	NC_000010.11:g.69016132A>C	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Val555Leu	rs746439491	missense variant	-	NC_000010.11:g.69016138G>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Phe556Leu	rs769220890	missense variant	-	NC_000010.11:g.69016141T>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Pro557Leu	rs1241920948	missense variant	-	NC_000010.11:g.69016145C>T	TOPMed
KIFBP	A0A1B0GUA3	p.Glu558Lys	rs777074091	missense variant	-	NC_000010.11:g.69016147G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.His559Pro	rs762195530	missense variant	-	NC_000010.11:g.69016151A>C	ExAC
KIFBP	A0A1B0GUA3	p.Ile560Val	rs773542445	missense variant	-	NC_000010.11:g.69016153A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Val564Ile	rs561448573	missense variant	-	NC_000010.11:g.69016165G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg566His	rs368405054	missense variant	-	NC_000010.11:g.69016172G>A	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg566Cys	rs374074903	missense variant	-	NC_000010.11:g.69016171C>T	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala568Thr	rs753869868	missense variant	-	NC_000010.11:g.69016177G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Phe573Leu	rs1419050253	missense variant	-	NC_000010.11:g.69016192T>C	gnomAD
KIFBP	A0A1B0GUA3	p.Phe573Val	rs1419050253	missense variant	-	NC_000010.11:g.69016192T>G	gnomAD
KIFBP	A0A1B0GUA3	p.Arg574Ter	rs906050638	stop gained	-	NC_000010.11:g.69016195C>T	-
KIFBP	A0A1B0GUA3	p.Val575Ile	rs1307543514	missense variant	-	NC_000010.11:g.69016198G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Arg577His	rs368655395	missense variant	-	NC_000010.11:g.69016205G>A	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg577Ser	rs147387308	missense variant	-	NC_000010.11:g.69016204C>A	ESP,ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Arg577Leu	rs368655395	missense variant	-	NC_000010.11:g.69016205G>T	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Arg577Cys	rs147387308	missense variant	-	NC_000010.11:g.69016204C>T	ESP,ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Gly580Asp	rs1300238727	missense variant	-	NC_000010.11:g.69016214G>A	gnomAD
KIFBP	A0A1B0GUA3	p.Ile583Val	rs768011424	missense variant	-	NC_000010.11:g.69016222A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Pro587Leu	rs372342802	missense variant	-	NC_000010.11:g.69016235C>T	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Lys589Gln	rs1355001362	missense variant	-	NC_000010.11:g.69016240A>C	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Leu598Trp	rs770269897	missense variant	-	NC_000010.11:g.69016268T>G	ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Glu599Gln	rs1160246349	missense variant	-	NC_000010.11:g.69016270G>C	TOPMed
KIFBP	A0A1B0GUA3	p.Lys602Arg	rs773630664	missense variant	-	NC_000010.11:g.69016280A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Phe603Cys	rs972791290	missense variant	-	NC_000010.11:g.69016283T>G	TOPMed
KIFBP	A0A1B0GUA3	p.Val605Ile	rs954046550	missense variant	-	NC_000010.11:g.69016288G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Cys608Tyr	rs1179791643	missense variant	-	NC_000010.11:g.69016298G>A	TOPMed
KIFBP	A0A1B0GUA3	p.Lys610Asn	rs1180539772	missense variant	-	NC_000010.11:g.69016305G>C	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Ala615Val	rs1351395042	missense variant	-	NC_000010.11:g.69016319C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Ala615Thr	rs374731910	missense variant	-	NC_000010.11:g.69016318G>A	ESP,ExAC,TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Gln616Arg	rs1458281300	missense variant	-	NC_000010.11:g.69016322A>G	gnomAD
KIFBP	A0A1B0GUA3	p.Ile618Val	rs201007879	missense variant	-	NC_000010.11:g.69016327A>G	1000Genomes,TOPMed
KIFBP	A0A1B0GUA3	p.Glu619Gln	rs1391756244	missense variant	-	NC_000010.11:g.69016330G>C	gnomAD
KIFBP	A0A1B0GUA3	p.Lys626Glu	rs775700337	missense variant	-	NC_000010.11:g.69016351A>G	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Ser630Asn	rs761910393	missense variant	-	NC_000010.11:g.69016364G>A	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Pro633Leu	rs1222693850	missense variant	-	NC_000010.11:g.69016373C>T	gnomAD
KIFBP	A0A1B0GUA3	p.Thr634Ala	rs1354919783	missense variant	-	NC_000010.11:g.69016375A>G	TOPMed
KIFBP	A0A1B0GUA3	p.Lys635Asn	rs552921995	missense variant	-	NC_000010.11:g.69016380A>C	1000Genomes
KIFBP	A0A1B0GUA3	p.Glu637Val	rs1272965370	missense variant	-	NC_000010.11:g.69016385A>T	TOPMed,gnomAD
KIFBP	A0A1B0GUA3	p.Met643Thr	rs758079903	missense variant	-	NC_000010.11:g.69016403T>C	ExAC,gnomAD
KIFBP	A0A1B0GUA3	p.Leu645Arg	rs985410422	missense variant	-	NC_000010.11:g.69016409T>G	TOPMed
KIFBP	A0A1B0GUA3	p.Thr646Ser	rs766086695	missense variant	-	NC_000010.11:g.69016411A>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Lys2Asn	rs771810629	missense variant	-	NC_000002.12:g.144517345C>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Lys2Arg	rs1462176732	missense variant	-	NC_000002.12:g.144517346T>C	gnomAD
ZEB2	A0A1B0GV02	p.Gln3His	rs149882004	missense variant	-	NC_000002.12:g.144517342C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro4Arg	rs577362409	missense variant	-	NC_000002.12:g.144517340G>C	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Pro4Ala	rs146394306	missense variant	-	NC_000002.12:g.144517341G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro4Leu	rs577362409	missense variant	-	NC_000002.12:g.144517340G>A	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ala7Thr	rs919196855	missense variant	-	NC_000002.12:g.144517332C>T	gnomAD
ZEB2	A0A1B0GV02	p.Ala7Glu	rs755026044	missense variant	-	NC_000002.12:g.144517331G>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly9Asp	rs1242134764	missense variant	-	NC_000002.12:g.144517325C>T	TOPMed
ZEB2	A0A1B0GV02	p.Pro10Arg	rs1383459443	missense variant	-	NC_000002.12:g.144517322G>C	gnomAD
ZEB2	A0A1B0GV02	p.Pro10Ser	rs1451219938	missense variant	-	NC_000002.12:g.144517323G>A	gnomAD
ZEB2	A0A1B0GV02	p.Arg11Pro	rs1476193985	missense variant	-	NC_000002.12:g.144517319C>G	TOPMed
ZEB2	A0A1B0GV02	p.Arg11Trp	rs1380456738	missense variant	-	NC_000002.12:g.144517320G>A	gnomAD
ZEB2	A0A1B0GV02	p.Cys12Tyr	rs780729047	missense variant	-	NC_000002.12:g.144517316C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Arg15His	rs759024037	missense variant	-	NC_000002.12:g.144517307C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln17Lys	rs201380888	missense variant	-	NC_000002.12:g.144517302G>T	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ala18Thr	rs1191751481	missense variant	-	NC_000002.12:g.144517299C>T	gnomAD
ZEB2	A0A1B0GV02	p.Ala18Val	rs1446907846	missense variant	-	NC_000002.12:g.144517298G>A	gnomAD
ZEB2	A0A1B0GV02	p.Ala18Asp	rs1446907846	missense variant	-	NC_000002.12:g.144517298G>T	gnomAD
ZEB2	A0A1B0GV02	p.Asn19Tyr	rs967864705	missense variant	-	NC_000002.12:g.144517296T>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro20Leu	rs730881206	missense variant	-	NC_000002.12:g.144517292G>A	-
ZEB2	A0A1B0GV02	p.Tyr28Cys	rs761120290	missense variant	-	NC_000002.12:g.144430017T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn30Ser	rs1057522155	missense variant	-	NC_000002.12:g.144430011T>C	-
ZEB2	A0A1B0GV02	p.Val31Ile	rs1317216507	missense variant	-	NC_000002.12:g.144430009C>T	gnomAD
ZEB2	A0A1B0GV02	p.Asp33Asn	rs1460150528	missense variant	-	NC_000002.12:g.144430003C>T	TOPMed
ZEB2	A0A1B0GV02	p.Thr34Ile	rs1356439083	missense variant	-	NC_000002.12:g.144429999G>A	gnomAD
ZEB2	A0A1B0GV02	p.Gly35Ser	rs1174052187	missense variant	-	NC_000002.12:g.144429997C>T	gnomAD
ZEB2	A0A1B0GV02	p.Glu41Lys	rs775762996	missense variant	-	NC_000002.12:g.144429979C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Lys43Arg	rs771719994	missense variant	-	NC_000002.12:g.144429972T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.His45Arg	rs1162356365	missense variant	-	NC_000002.12:g.144429966T>C	TOPMed
ZEB2	A0A1B0GV02	p.Ala47Ser	rs730881184	missense variant	-	NC_000002.12:g.144429961C>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala47Val	rs1457433258	missense variant	-	NC_000002.12:g.144429960G>A	TOPMed
ZEB2	A0A1B0GV02	p.Asp49Gly	rs773988822	missense variant	-	NC_000002.12:g.144429954T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly51Ser	rs749173524	missense variant	-	NC_000002.12:g.144429949C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly51Val	rs1429970357	missense variant	-	NC_000002.12:g.144429948C>A	TOPMed
ZEB2	A0A1B0GV02	p.Ala53Asp	rs730881185	missense variant	-	NC_000002.12:g.144429942G>T	-
ZEB2	A0A1B0GV02	p.Asn54Ser	rs1280380229	missense variant	-	NC_000002.12:g.144429939T>C	gnomAD
ZEB2	A0A1B0GV02	p.Pro55Leu	rs1236446530	missense variant	-	NC_000002.12:g.144429936G>A	gnomAD
ZEB2	A0A1B0GV02	p.Leu56Arg	rs61750440	missense variant	-	NC_000002.12:g.144429933A>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu56Pro	rs61750440	missense variant	-	NC_000002.12:g.144429933A>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asp57His	rs1357146280	missense variant	-	NC_000002.12:g.144429931C>G	TOPMed
ZEB2	A0A1B0GV02	p.Asp57Glu	rs1306045887	missense variant	-	NC_000002.12:g.144429929G>T	gnomAD
ZEB2	A0A1B0GV02	p.Gln58His	rs1375255877	missense variant	-	NC_000002.12:g.144429926C>G	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gln58Arg	rs747953453	missense variant	-	NC_000002.12:g.144429927T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Thr60Met	rs780890592	missense variant	-	NC_000002.12:g.144429921G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser61Thr	rs778895785	missense variant	-	NC_000002.12:g.144429918C>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser61Cys	rs535673534	missense variant	-	NC_000002.12:g.144429919T>A	1000Genomes,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro62Leu	rs1418417685	missense variant	-	NC_000002.12:g.144429915G>A	gnomAD
ZEB2	A0A1B0GV02	p.Pro66Ala	rs1282295762	missense variant	-	NC_000002.12:g.144429904G>C	TOPMed
ZEB2	A0A1B0GV02	p.Glu69Lys	rs1183158315	missense variant	-	NC_000002.12:g.144429895C>T	gnomAD
ZEB2	A0A1B0GV02	p.Pro72Arg	rs754290456	missense variant	-	NC_000002.12:g.144429885G>C	ExAC
ZEB2	A0A1B0GV02	p.Val74Met	rs767169568	missense variant	-	NC_000002.12:g.144429880C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln76Arg	rs1212334195	missense variant	-	NC_000002.12:g.144429873T>C	gnomAD
ZEB2	A0A1B0GV02	p.Gln76His	rs1351431658	missense variant	-	NC_000002.12:g.144429872T>A	gnomAD
ZEB2	A0A1B0GV02	p.Leu79Ser	rs1260145954	missense variant	-	NC_000002.12:g.144429864A>G	gnomAD
ZEB2	A0A1B0GV02	p.Pro80Leu	rs1239666726	missense variant	-	NC_000002.12:g.144429861G>A	gnomAD
ZEB2	A0A1B0GV02	p.Glu82Asp	rs950680235	missense variant	-	NC_000002.12:g.144429854C>A	TOPMed
ZEB2	A0A1B0GV02	p.Glu83Lys	rs1318555924	missense variant	-	NC_000002.12:g.144429853C>T	gnomAD
ZEB2	A0A1B0GV02	p.Glu84Ala	rs774153758	missense variant	-	NC_000002.12:g.144429849T>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asp86Gly	rs770528613	missense variant	-	NC_000002.12:g.144429843T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Glu94Ter	rs727504228	stop gained	-	NC_000002.12:g.144429820C>A	-
ZEB2	A0A1B0GV02	p.His95Pro	rs762576009	missense variant	-	NC_000002.12:g.144429816T>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.His95Gln	rs772898330	missense variant	-	NC_000002.12:g.144429815G>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Trp97Cys	rs1455780012	missense variant	-	NC_000002.12:g.144429809C>A	gnomAD
ZEB2	A0A1B0GV02	p.Asn99Lys	rs147603619	missense variant	-	NC_000002.12:g.144429803G>T	1000Genomes,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asn99Asp	rs150665982	missense variant	-	NC_000002.12:g.144429805T>C	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ile102Phe	rs201109457	missense variant	-	NC_000002.12:g.144429796T>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu103Gln	rs779126949	missense variant	-	NC_000002.12:g.144429792A>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln104Lys	rs753880265	missense variant	-	NC_000002.12:g.144429790G>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ala105Val	rs730881207	missense variant	-	NC_000002.12:g.144429786G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala105Asp	rs730881207	missense variant	-	NC_000002.12:g.144429786G>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala105Gly	rs730881207	missense variant	-	NC_000002.12:g.144429786G>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser106Pro	rs1422801950	missense variant	-	NC_000002.12:g.144429784A>G	gnomAD
ZEB2	A0A1B0GV02	p.Val107Ile	rs1217004857	missense variant	-	NC_000002.12:g.144429781C>T	gnomAD
ZEB2	A0A1B0GV02	p.Val107Leu	rs1217004857	missense variant	-	NC_000002.12:g.144429781C>A	gnomAD
ZEB2	A0A1B0GV02	p.Pro110Ser	rs900139874	missense variant	-	NC_000002.12:g.144429772G>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu111Lys	rs546106891	missense variant	-	NC_000002.12:g.144429769C>T	gnomAD
ZEB2	A0A1B0GV02	p.Glu112Ala	rs1235712414	missense variant	-	NC_000002.12:g.144424864T>G	gnomAD
ZEB2	A0A1B0GV02	p.Met113Thr	rs758065125	missense variant	-	NC_000002.12:g.144424861A>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Met113Lys	rs758065125	missense variant	-	NC_000002.12:g.144424861A>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu115Lys	rs750047584	missense variant	-	NC_000002.12:g.144424856C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Glu115Asp	rs764762586	missense variant	-	NC_000002.12:g.144424854T>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Tyr117Cys	rs761249729	missense variant	-	NC_000002.12:g.144424849T>C	ExAC,TOPMed
ZEB2	A0A1B0GV02	p.Tyr117His	rs1057522108	missense variant	-	NC_000002.12:g.144424850A>G	-
ZEB2	A0A1B0GV02	p.Met120Val	rs967238222	missense variant	-	NC_000002.12:g.144424841T>C	gnomAD
ZEB2	A0A1B0GV02	p.Ala124Val	rs1462605720	missense variant	-	NC_000002.12:g.144424828G>A	TOPMed
ZEB2	A0A1B0GV02	p.Thr125Met	rs727504227	missense variant	-	NC_000002.12:g.144424825G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ile126Thr	rs1172423244	missense variant	-	NC_000002.12:g.144424822A>G	gnomAD
ZEB2	A0A1B0GV02	p.Thr128Ile	rs1440144232	missense variant	-	NC_000002.12:g.144424816G>A	TOPMed
ZEB2	A0A1B0GV02	p.Ala129Thr	rs730881187	missense variant	-	NC_000002.12:g.144424814C>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala129Val	rs749450311	missense variant	-	NC_000002.12:g.144424813G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ile130Thr	rs773339468	missense variant	-	NC_000002.12:g.144424810A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ile130Val	rs1057520175	missense variant	-	NC_000002.12:g.144424811T>C	gnomAD
ZEB2	A0A1B0GV02	p.Asn132Ser	rs369622877	missense variant	-	NC_000002.12:g.144424804T>C	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr134Ile	rs747578586	missense variant	-	NC_000002.12:g.144424798G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Lys136Asn	rs755817856	missense variant	-	NC_000002.12:g.144405020C>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn137Ser	rs1370082779	missense variant	-	NC_000002.12:g.144405018T>C	gnomAD
ZEB2	A0A1B0GV02	p.Thr141Pro	rs1239830907	missense variant	-	NC_000002.12:g.144405007T>G	TOPMed
ZEB2	A0A1B0GV02	p.Asp143Asn	rs780748597	missense variant	-	NC_000002.12:g.144405001C>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asp143Glu	rs754857619	missense variant	-	NC_000002.12:g.144404999A>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Phe144Ile	rs1057518371	missense variant	-	NC_000002.12:g.144404998A>T	gnomAD
ZEB2	A0A1B0GV02	p.Phe144Cys	rs751531131	missense variant	-	NC_000002.12:g.144404997A>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu146Lys	rs1372526467	missense variant	-	NC_000002.12:g.144404992C>T	gnomAD
ZEB2	A0A1B0GV02	p.Phe148Leu	rs1434660770	missense variant	-	NC_000002.12:g.144404984A>C	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Arg151Ser	rs758233583	missense variant	-	NC_000002.12:g.144404975T>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Leu153Pro	rs1459619968	missense variant	-	NC_000002.12:g.144404970A>G	TOPMed
ZEB2	A0A1B0GV02	p.Glu155Asp	rs1389589538	missense variant	-	NC_000002.12:g.144404963T>A	TOPMed
ZEB2	A0A1B0GV02	p.Arg156His	rs1250217464	missense variant	-	NC_000002.12:g.144404961C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Arg156Cys	rs147021269	missense variant	-	NC_000002.12:g.144404962G>A	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asp157Gly	rs761041545	missense variant	-	NC_000002.12:g.144404958T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly158Arg	rs1232329175	missense variant	-	NC_000002.12:g.144404956C>G	gnomAD
ZEB2	A0A1B0GV02	p.His159Gln	rs730881188	missense variant	-	NC_000002.12:g.144404951A>C	-
ZEB2	A0A1B0GV02	p.Ala160Pro	rs1449478104	missense variant	-	NC_000002.12:g.144404950C>G	TOPMed
ZEB2	A0A1B0GV02	p.Val161Ile	rs767646648	missense variant	-	NC_000002.12:g.144404947C>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val161Phe	rs767646648	missense variant	-	NC_000002.12:g.144404947C>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser162Arg	rs1346514691	missense variant	-	NC_000002.12:g.144404942G>T	gnomAD
ZEB2	A0A1B0GV02	p.Glu164Lys	rs771155056	missense variant	-	NC_000002.12:g.144404938C>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu164Gln	rs771155056	missense variant	-	NC_000002.12:g.144404938C>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu165Asp	rs749634655	missense variant	-	NC_000002.12:g.144404933C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Glu165Gly	rs1305979829	missense variant	-	NC_000002.12:g.144404934T>C	gnomAD
ZEB2	A0A1B0GV02	p.Glu165Lys	rs1314954470	missense variant	-	NC_000002.12:g.144404935C>T	gnomAD
ZEB2	A0A1B0GV02	p.Tyr166Cys	rs529828321	missense variant	-	NC_000002.12:g.144404931T>C	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Arg169Cys	rs769433211	missense variant	-	NC_000002.12:g.144404923G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Arg169Leu	rs1414304969	missense variant	-	NC_000002.12:g.144404922C>A	gnomAD
ZEB2	A0A1B0GV02	p.Arg169His	rs1414304969	missense variant	-	NC_000002.12:g.144404922C>T	gnomAD
ZEB2	A0A1B0GV02	p.Ser170Gly	rs747857030	missense variant	-	NC_000002.12:g.144404920T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Thr172Pro	rs780624319	missense variant	-	NC_000002.12:g.144404914T>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ile174Val	rs140810090	missense variant	-	NC_000002.12:g.144404908T>C	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu182Ala	rs1413805307	missense variant	-	NC_000002.12:g.144404883T>G	gnomAD
ZEB2	A0A1B0GV02	p.Arg185His	rs752377563	missense variant	-	NC_000002.12:g.144404874C>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Arg185Leu	rs752377563	missense variant	-	NC_000002.12:g.144404874C>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Arg185Cys	rs755598619	missense variant	-	NC_000002.12:g.144404875G>A	TOPMed
ZEB2	A0A1B0GV02	p.Leu186Arg	rs1474117234	missense variant	-	NC_000002.12:g.144404871A>C	TOPMed
ZEB2	A0A1B0GV02	p.Thr188Met	rs780017365	missense variant	-	NC_000002.12:g.144404865G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn192Ser	rs779549076	missense variant	-	NC_000002.12:g.144404853T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly193Glu	rs1470769626	missense variant	-	NC_000002.12:g.144404850C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gln194Arg	rs1232863066	missense variant	-	NC_000002.12:g.144404847T>C	gnomAD
ZEB2	A0A1B0GV02	p.Asn197Ser	rs982632371	missense variant	-	NC_000002.12:g.144404838T>C	TOPMed
ZEB2	A0A1B0GV02	p.Thr203Asn	rs1460080950	missense variant	-	NC_000002.12:g.144404115G>T	gnomAD
ZEB2	A0A1B0GV02	p.Pro204Ala	rs1181070035	missense variant	-	NC_000002.12:g.144404113G>C	gnomAD
ZEB2	A0A1B0GV02	p.Asp205Tyr	rs1437854221	missense variant	-	NC_000002.12:g.144404110C>A	gnomAD
ZEB2	A0A1B0GV02	p.Gln209Lys	rs527679524	missense variant	-	NC_000002.12:g.144404098G>T	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln209His	rs1044810482	missense variant	-	NC_000002.12:g.144404096T>A	gnomAD
ZEB2	A0A1B0GV02	p.Asp217Asn	rs755199698	missense variant	-	NC_000002.12:g.144404074C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asp217Tyr	rs755199698	missense variant	-	NC_000002.12:g.144404074C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Tyr220Ter	rs111724246	stop gained	-	NC_000002.12:g.144404063G>C	-
ZEB2	A0A1B0GV02	p.Arg222His	rs1231144040	missense variant	-	NC_000002.12:g.144404058C>T	TOPMed
ZEB2	A0A1B0GV02	p.Arg222Cys	rs730881189	missense variant	-	NC_000002.12:g.144404059G>A	gnomAD
ZEB2	A0A1B0GV02	p.Thr224Ser	rs1275393702	missense variant	-	NC_000002.12:g.144404053T>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser225Ter	rs797046122	stop gained	-	NC_000002.12:g.144404049G>T	-
ZEB2	A0A1B0GV02	p.Tyr232Cys	rs1224929555	missense variant	-	NC_000002.12:g.144404028T>C	TOPMed
ZEB2	A0A1B0GV02	p.Arg233Cys	rs1303138587	missense variant	-	NC_000002.12:g.144404026G>A	gnomAD
ZEB2	A0A1B0GV02	p.His234Leu	rs763393578	missense variant	-	NC_000002.12:g.144404022T>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Glu235Gly	rs969978390	missense variant	-	NC_000002.12:g.144404019T>C	TOPMed
ZEB2	A0A1B0GV02	p.Glu235Lys	rs1553962069	missense variant	-	NC_000002.12:g.144404020C>T	-
ZEB2	A0A1B0GV02	p.Ser242Pro	rs1389277455	missense variant	-	NC_000002.12:g.144403999A>G	gnomAD
ZEB2	A0A1B0GV02	p.Ser242Phe	rs1484531426	missense variant	-	NC_000002.12:g.144403998G>A	TOPMed
ZEB2	A0A1B0GV02	p.Pro244Ser	rs730881190	missense variant	-	NC_000002.12:g.144403993G>A	-
ZEB2	A0A1B0GV02	p.Cys246Arg	rs762142093	missense variant	-	NC_000002.12:g.144403987A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser247Thr	rs1478261250	missense variant	-	NC_000002.12:g.144403983C>G	gnomAD
ZEB2	A0A1B0GV02	p.Ser247Gly	rs1172921748	missense variant	-	NC_000002.12:g.144403984T>C	gnomAD
ZEB2	A0A1B0GV02	p.Thr249Met	rs1248212141	missense variant	-	NC_000002.12:g.144403977G>A	gnomAD
ZEB2	A0A1B0GV02	p.Ala251Thr	rs1437414345	missense variant	-	NC_000002.12:g.144403972C>T	gnomAD
ZEB2	A0A1B0GV02	p.Arg253Cys	rs760301787	missense variant	-	NC_000002.12:g.144403966G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Leu256Pro	rs745758509	missense variant	-	NC_000002.12:g.144403956A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Arg258Gln	rs730881173	missense variant	-	NC_000002.12:g.144403950C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln269Ter	rs398124284	stop gained	-	NC_000002.12:g.144403918G>A	-
ZEB2	A0A1B0GV02	p.Met272Thr	rs1316130059	missense variant	-	NC_000002.12:g.144401300A>G	gnomAD
ZEB2	A0A1B0GV02	p.Thr274Ile	rs1443908916	missense variant	-	NC_000002.12:g.144401294G>A	TOPMed
ZEB2	A0A1B0GV02	p.Gln275Glu	rs587784570	missense variant	-	NC_000002.12:g.144401292G>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln275Ter	rs587784570	stop gained	-	NC_000002.12:g.144401292G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ala277Thr	rs369668612	missense variant	-	NC_000002.12:g.144401286C>T	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asn279Ser	rs1417261806	missense variant	-	NC_000002.12:g.144401279T>C	gnomAD
ZEB2	A0A1B0GV02	p.Arg280Cys	rs773002262	missense variant	-	NC_000002.12:g.144401277G>A	ExAC
ZEB2	A0A1B0GV02	p.Lys281Arg	rs1182449763	missense variant	-	NC_000002.12:g.144401273T>C	gnomAD
ZEB2	A0A1B0GV02	p.Lys283Asn	rs1240923843	missense variant	-	NC_000002.12:g.144401266T>A	gnomAD
ZEB2	A0A1B0GV02	p.Lys289Glu	rs1064793305	missense variant	-	NC_000002.12:g.144401250T>C	-
ZEB2	A0A1B0GV02	p.Lys289Arg	rs1210235575	missense variant	-	NC_000002.12:g.144401249T>C	gnomAD
ZEB2	A0A1B0GV02	p.His295Pro	rs1288535133	missense variant	-	NC_000002.12:g.144401231T>G	gnomAD
ZEB2	A0A1B0GV02	p.Arg302Ter	rs587784571	stop gained	-	NC_000002.12:g.144401211G>A	-
ZEB2	A0A1B0GV02	p.Arg302Gln	rs730881174	missense variant	-	NC_000002.12:g.144401210C>T	-
ZEB2	A0A1B0GV02	p.Leu316Ter	rs1250305529	stop gained	-	NC_000002.12:g.144400315A>C	gnomAD
ZEB2	A0A1B0GV02	p.Ser317Pro	rs767249756	missense variant	-	NC_000002.12:g.144400313A>G	ExAC
ZEB2	A0A1B0GV02	p.Gln319Arg	rs1192071199	missense variant	-	NC_000002.12:g.144400306T>C	gnomAD
ZEB2	A0A1B0GV02	p.Asn321Asp	rs377681618	missense variant	-	NC_000002.12:g.144400301T>C	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asn321Ser	rs773988813	missense variant	-	NC_000002.12:g.144400300T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Val322Ile	rs374112817	missense variant	-	NC_000002.12:g.144400298C>T	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val322Leu	rs374112817	missense variant	-	NC_000002.12:g.144400298C>A	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr323Met	rs370754895	missense variant	-	NC_000002.12:g.144400294G>A	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr323Lys	rs370754895	missense variant	-	NC_000002.12:g.144400294G>T	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val324Ala	rs35213774	missense variant	-	NC_000002.12:g.144400291A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ile325Leu	rs776475211	missense variant	-	NC_000002.12:g.144400289T>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Leu326Phe	rs1366614318	missense variant	-	NC_000002.12:g.144400284T>G	gnomAD
ZEB2	A0A1B0GV02	p.Ile329Val	rs1294381202	missense variant	-	NC_000002.12:g.144400277T>C	gnomAD
ZEB2	A0A1B0GV02	p.Leu330Ser	rs772266839	missense variant	-	NC_000002.12:g.144400273A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Pro334Ser	rs1085307638	missense variant	-	NC_000002.12:g.144400262G>A	-
ZEB2	A0A1B0GV02	p.Tyr335Ter	rs6711223	stop gained	-	NC_000002.12:g.144400257G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Cys337Tyr	rs757310278	missense variant	-	NC_000002.12:g.144400252C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.His346Pro	rs730881191	missense variant	-	NC_000002.12:g.144400225T>G	-
ZEB2	A0A1B0GV02	p.Ser352Leu	rs756686919	missense variant	-	NC_000002.12:g.144400207G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser352Ter	rs756686919	stop gained	-	NC_000002.12:g.144400207G>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser352Trp	rs756686919	missense variant	-	NC_000002.12:g.144400207G>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Lys358Ter	rs1553961777	stop gained	-	NC_000002.12:g.144400190T>A	-
ZEB2	A0A1B0GV02	p.Ile360Thr	rs1483088063	missense variant	-	NC_000002.12:g.144400183A>G	gnomAD
ZEB2	A0A1B0GV02	p.Ile363Phe	rs751262430	missense variant	-	NC_000002.12:g.144400175T>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn366Ser	rs765873248	missense variant	-	NC_000002.12:g.144400165T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly367Cys	rs1221169240	missense variant	-	NC_000002.12:g.144400163C>A	gnomAD
ZEB2	A0A1B0GV02	p.Arg368Ter	rs786204815	stop gained	-	NC_000002.12:g.144400160G>A	-
ZEB2	A0A1B0GV02	p.Arg368Gln	rs746958005	missense variant	-	NC_000002.12:g.144400159C>T	gnomAD
ZEB2	A0A1B0GV02	p.Arg370Lys	rs138012464	missense variant	-	NC_000002.12:g.144400153C>T	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ile373Thr	rs1307639926	missense variant	-	NC_000002.12:g.144400144A>G	gnomAD
ZEB2	A0A1B0GV02	p.Thr375Ala	rs730881175	missense variant	-	NC_000002.12:g.144400139T>C	-
ZEB2	A0A1B0GV02	p.Thr375Met	rs975397942	missense variant	-	NC_000002.12:g.144400138G>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser378Tyr	rs1465933533	missense variant	-	NC_000002.12:g.144400129G>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val382Leu	rs761866469	missense variant	-	NC_000002.12:g.144400118C>G	ExAC
ZEB2	A0A1B0GV02	p.Thr387Ser	rs1357640279	missense variant	-	NC_000002.12:g.144400102G>C	TOPMed
ZEB2	A0A1B0GV02	p.Ile391Val	rs1417694978	missense variant	-	NC_000002.12:g.144400091T>C	gnomAD
ZEB2	A0A1B0GV02	p.Thr392Asn	rs1180969206	missense variant	-	NC_000002.12:g.144400087G>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gln393Ter	rs886041338	stop gained	-	NC_000002.12:g.144400085G>A	-
ZEB2	A0A1B0GV02	p.Leu394Ter	rs797046117	stop gained	-	NC_000002.12:g.144400081A>T	-
ZEB2	A0A1B0GV02	p.Asn396Ile	rs1290033369	missense variant	-	NC_000002.12:g.144400075T>A	TOPMed
ZEB2	A0A1B0GV02	p.Lys402Thr	rs1489720797	missense variant	-	NC_000002.12:g.144400057T>G	TOPMed
ZEB2	A0A1B0GV02	p.Leu404Arg	rs371346988	missense variant	-	NC_000002.12:g.144400051A>C	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Met406Val	rs1253287862	missense variant	-	NC_000002.12:g.144400046T>C	gnomAD
ZEB2	A0A1B0GV02	p.Thr410Arg	rs1208678748	missense variant	-	NC_000002.12:g.144400033G>C	gnomAD
ZEB2	A0A1B0GV02	p.Leu413Phe	rs1553961748	missense variant	-	NC_000002.12:g.144400025G>A	-
ZEB2	A0A1B0GV02	p.Lys414Gln	rs774574101	missense variant	-	NC_000002.12:g.144400022T>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.LysThrGluPro416MetThrTerAsnTerUnk	rs786204805	stop gained	-	NC_000002.12:g.144400005_144400015delinsCATTAATTTTAAGTCA	-
ZEB2	A0A1B0GV02	p.Pro419Arg	rs1212043477	missense variant	-	NC_000002.12:g.144400006G>C	gnomAD
ZEB2	A0A1B0GV02	p.Leu420Val	rs1288005424	missense variant	-	NC_000002.12:g.144400004G>C	gnomAD
ZEB2	A0A1B0GV02	p.Val427Ile	rs1190356101	missense variant	-	NC_000002.12:g.144399983C>T	TOPMed
ZEB2	A0A1B0GV02	p.Met429Lys	rs754087167	missense variant	-	NC_000002.12:g.144399976A>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Met429Thr	rs754087167	missense variant	-	NC_000002.12:g.144399976A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Thr431Ile	rs749293331	missense variant	-	NC_000002.12:g.144399970G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr431Lys	rs749293331	missense variant	-	NC_000002.12:g.144399970G>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly433Glu	rs866945160	missense variant	-	NC_000002.12:g.144399964C>T	gnomAD
ZEB2	A0A1B0GV02	p.Gly433Arg	rs770190727	missense variant	-	NC_000002.12:g.144399965C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly433Val	rs866945160	missense variant	-	NC_000002.12:g.144399964C>A	gnomAD
ZEB2	A0A1B0GV02	p.Phe434Val	rs748682355	missense variant	-	NC_000002.12:g.144399962A>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser435Asn	rs781638086	missense variant	-	NC_000002.12:g.144399958C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Pro439Leu	rs1360446759	missense variant	-	NC_000002.12:g.144399946G>A	gnomAD
ZEB2	A0A1B0GV02	p.Pro439Ser	rs755425183	missense variant	-	NC_000002.12:g.144399947G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro439Thr	rs755425183	missense variant	-	NC_000002.12:g.144399947G>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Met441Thr	rs142954549	missense variant	-	NC_000002.12:g.144399940A>G	ESP,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ala447Thr	rs141793065	missense variant	-	NC_000002.12:g.144399923C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro450Ser	rs749885926	missense variant	-	NC_000002.12:g.144399914G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Leu451Ile	rs201881288	missense variant	-	NC_000002.12:g.144399911A>T	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu451Ter	rs786204807	stop gained	-	NC_000002.12:g.144399910A>C	-
ZEB2	A0A1B0GV02	p.Gly452Arg	rs1407094496	missense variant	-	NC_000002.12:g.144399908C>T	gnomAD
ZEB2	A0A1B0GV02	p.Gly452Val	rs1553961730	missense variant	-	NC_000002.12:g.144399907C>A	-
ZEB2	A0A1B0GV02	p.Val453Ala	rs730881192	missense variant	-	NC_000002.12:g.144399904A>G	-
ZEB2	A0A1B0GV02	p.Val453Ile	rs761671566	missense variant	-	NC_000002.12:g.144399905C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Pro455Arg	rs1387279088	missense variant	-	NC_000002.12:g.144399898G>C	TOPMed
ZEB2	A0A1B0GV02	p.Pro455Ser	rs753804606	missense variant	-	NC_000002.12:g.144399899G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser456Thr	rs1267201464	missense variant	-	NC_000002.12:g.144399896A>T	gnomAD
ZEB2	A0A1B0GV02	p.Ala457Ser	rs775773250	missense variant	-	NC_000002.12:g.144399893C>A	gnomAD
ZEB2	A0A1B0GV02	p.Ala457Thr	rs775773250	missense variant	-	NC_000002.12:g.144399893C>T	gnomAD
ZEB2	A0A1B0GV02	p.Gln458Arg	rs1209628271	missense variant	-	NC_000002.12:g.144399889T>C	gnomAD
ZEB2	A0A1B0GV02	p.Gln458His	rs1331400530	missense variant	-	NC_000002.12:g.144399888C>G	gnomAD
ZEB2	A0A1B0GV02	p.Met461Ile	rs1317705599	missense variant	-	NC_000002.12:g.144399879C>T	TOPMed
ZEB2	A0A1B0GV02	p.Met461Val	rs145812868	missense variant	-	NC_000002.12:g.144399881T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gln462Lys	rs760437173	missense variant	-	NC_000002.12:g.144399878G>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Leu464Val	rs1060503991	missense variant	-	NC_000002.12:g.144399872A>C	TOPMed
ZEB2	A0A1B0GV02	p.Val466Gly	rs775301918	missense variant	-	NC_000002.12:g.144399865A>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val466Ile	rs1341111083	missense variant	-	NC_000002.12:g.144399866C>T	gnomAD
ZEB2	A0A1B0GV02	p.Met468Val	rs763297068	missense variant	-	NC_000002.12:g.144399860T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ala470Thr	rs1359110374	missense variant	-	NC_000002.12:g.144399854C>T	TOPMed
ZEB2	A0A1B0GV02	p.Pro471Ser	rs1435380197	missense variant	-	NC_000002.12:g.144399851G>A	gnomAD
ZEB2	A0A1B0GV02	p.Leu473Phe	rs1390459414	missense variant	-	NC_000002.12:g.144399845G>A	gnomAD
ZEB2	A0A1B0GV02	p.Thr477Ala	rs781770369	missense variant	-	NC_000002.12:g.144399833T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Met478Arg	rs919014269	missense variant	-	NC_000002.12:g.144399829A>C	TOPMed
ZEB2	A0A1B0GV02	p.Asn481Ser	rs1447536167	missense variant	-	NC_000002.12:g.144399820T>C	gnomAD
ZEB2	A0A1B0GV02	p.Val485Leu	rs747347956	missense variant	-	NC_000002.12:g.144399809C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln486Ter	rs398124274	stop gained	-	NC_000002.12:g.144399806G>A	-
ZEB2	A0A1B0GV02	p.Lys487Asn	rs780523431	missense variant	-	NC_000002.12:g.144399801C>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Lys487Asn	rs780523431	missense variant	-	NC_000002.12:g.144399801C>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val492Ala	rs1265589762	missense variant	-	NC_000002.12:g.144399787A>G	gnomAD
ZEB2	A0A1B0GV02	p.Asp493Glu	rs1443743088	missense variant	-	NC_000002.12:g.144399783G>T	TOPMed
ZEB2	A0A1B0GV02	p.Val496Ala	rs1267261033	missense variant	-	NC_000002.12:g.144399775A>G	gnomAD
ZEB2	A0A1B0GV02	p.Ser497Cys	rs1451887201	missense variant	-	NC_000002.12:g.144399772G>C	TOPMed
ZEB2	A0A1B0GV02	p.Arg498Lys	rs1158068939	missense variant	-	NC_000002.12:g.144399769C>T	TOPMed
ZEB2	A0A1B0GV02	p.Lys500Arg	rs1017075985	missense variant	-	NC_000002.12:g.144399763T>C	TOPMed
ZEB2	A0A1B0GV02	p.Met501Thr	rs1342002735	missense variant	-	NC_000002.12:g.144399760A>G	gnomAD
ZEB2	A0A1B0GV02	p.Met501Leu	rs778246270	missense variant	-	NC_000002.12:g.144399761T>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Cys503Trp	rs756778602	missense variant	-	NC_000002.12:g.144399753G>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ala505Pro	rs143854197	missense variant	-	NC_000002.12:g.144399749C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala505Ser	rs143854197	missense variant	-	NC_000002.12:g.144399749C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala505Asp	rs13017697	missense variant	-	NC_000002.12:g.144399748G>T	TOPMed
ZEB2	A0A1B0GV02	p.Ala505Val	rs13017697	missense variant	-	NC_000002.12:g.144399748G>A	TOPMed
ZEB2	A0A1B0GV02	p.Glu506Gly	rs763985342	missense variant	-	NC_000002.12:g.144399745T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Glu507Asp	rs886043609	missense variant	-	NC_000002.12:g.144399741T>G	-
ZEB2	A0A1B0GV02	p.Ser509Ter	rs886041698	stop gained	-	NC_000002.12:g.144399736G>T	-
ZEB2	A0A1B0GV02	p.Leu511Ser	rs1382650872	missense variant	-	NC_000002.12:g.144399730A>G	TOPMed
ZEB2	A0A1B0GV02	p.Lys512Thr	rs752424029	missense variant	-	NC_000002.12:g.144399727T>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly513Ser	rs1392383826	missense variant	-	NC_000002.12:g.144399725C>T	TOPMed
ZEB2	A0A1B0GV02	p.Tyr514Ter	rs1553961705	stop gained	-	NC_000002.12:g.144399720A>T	-
ZEB2	A0A1B0GV02	p.Met516Leu	rs1294703110	missense variant	-	NC_000002.12:g.144399716T>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro519Ser	rs144952836	missense variant	-	NC_000002.12:g.144399707G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro519Arg	rs1266955179	missense variant	-	NC_000002.12:g.144399706G>C	TOPMed
ZEB2	A0A1B0GV02	p.Gln522His	rs200378546	missense variant	-	NC_000002.12:g.144399696T>G	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln522Ter	rs1553961702	stop gained	-	NC_000002.12:g.144399698G>A	-
ZEB2	A0A1B0GV02	p.Pro523Ser	rs776893119	missense variant	-	NC_000002.12:g.144399695G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Glu524Lys	rs769283637	missense variant	-	NC_000002.12:g.144399692C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Val528Phe	rs1203180157	missense variant	-	NC_000002.12:g.144399680C>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val528Ile	rs1203180157	missense variant	-	NC_000002.12:g.144399680C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr529Ala	rs747529847	missense variant	-	NC_000002.12:g.144399677T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ile533Asn	rs1460802107	missense variant	-	NC_000002.12:g.144399664A>T	TOPMed
ZEB2	A0A1B0GV02	p.Pro534Arg	rs1051563603	missense variant	-	NC_000002.12:g.144399661G>C	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro534Leu	rs1051563603	missense variant	-	NC_000002.12:g.144399661G>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly537Ser	rs141781307	missense variant	-	NC_000002.12:g.144399653C>T	ESP,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly537Cys	rs141781307	missense variant	-	NC_000002.12:g.144399653C>A	ESP,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Pro539Leu	rs1302932819	missense variant	-	NC_000002.12:g.144399646G>A	gnomAD
ZEB2	A0A1B0GV02	p.Pro539Thr	rs1181298165	missense variant	-	NC_000002.12:g.144399647G>T	TOPMed
ZEB2	A0A1B0GV02	p.Val541Leu	rs777325391	missense variant	-	NC_000002.12:g.144399641C>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.His543Arg	rs755990409	missense variant	-	NC_000002.12:g.144399634T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly545Asp	rs1399803326	missense variant	-	NC_000002.12:g.144399628C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly545Val	rs1399803326	missense variant	-	NC_000002.12:g.144399628C>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr547Ser	rs730881193	missense variant	-	NC_000002.12:g.144399622G>C	gnomAD
ZEB2	A0A1B0GV02	p.Asn559Ile	rs767181131	missense variant	-	NC_000002.12:g.144399586T>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asn559Ser	rs767181131	missense variant	-	NC_000002.12:g.144399586T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala563Val	rs1439256167	missense variant	-	NC_000002.12:g.144399574G>A	gnomAD
ZEB2	A0A1B0GV02	p.Cys564Tyr	rs1345718927	missense variant	-	NC_000002.12:g.144399571C>T	TOPMed
ZEB2	A0A1B0GV02	p.Asp571Val	rs1472332600	missense variant	-	NC_000002.12:g.144399550T>A	gnomAD
ZEB2	A0A1B0GV02	p.Asp571Asn	rs754823896	missense variant	-	NC_000002.12:g.144399551C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Arg574Ter	rs137852980	stop gained	-	NC_000002.12:g.144399542T>A	gnomAD
ZEB2	A0A1B0GV02	p.Ser577Asn	rs1441120961	missense variant	-	NC_000002.12:g.144399532C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ile579Val	rs765528219	missense variant	-	NC_000002.12:g.144399527T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Lys583Arg	rs776792424	missense variant	-	NC_000002.12:g.144399514T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Arg585His	rs370504406	missense variant	-	NC_000002.12:g.144399508C>T	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Arg585Cys	rs730881194	missense variant	-	NC_000002.12:g.144399509G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr586Ala	rs730881195	missense variant	-	NC_000002.12:g.144399506T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asp589Asn	rs746211840	missense variant	-	NC_000002.12:g.144399497C>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu590Phe	rs1333425873	missense variant	-	NC_000002.12:g.144399492C>A	gnomAD
ZEB2	A0A1B0GV02	p.Thr592Ile	rs1204140022	missense variant	-	NC_000002.12:g.144399487G>A	TOPMed
ZEB2	A0A1B0GV02	p.Asp594Gly	rs1269927865	missense variant	-	NC_000002.12:g.144399481T>C	TOPMed
ZEB2	A0A1B0GV02	p.Ile597Val	rs770555715	missense variant	-	NC_000002.12:g.144399473T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn599Lys	rs1410662103	missense variant	-	NC_000002.12:g.144399465G>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.His600Arg	rs1197446334	missense variant	-	NC_000002.12:g.144399463T>C	TOPMed
ZEB2	A0A1B0GV02	p.Asn601Ser	rs748955225	missense variant	-	NC_000002.12:g.144399460T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr604Ala	rs140593583	missense variant	-	NC_000002.12:g.144399452T>C	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Cys608Ter	rs786204808	stop gained	-	NC_000002.12:g.144399438G>T	-
ZEB2	A0A1B0GV02	p.Lys612Glu	rs1471841333	missense variant	-	NC_000002.12:g.144399428T>C	gnomAD
ZEB2	A0A1B0GV02	p.Glu613Gly	rs755652778	missense variant	-	NC_000002.12:g.144399424T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Arg626Pro	rs1188832847	missense variant	-	NC_000002.12:g.144399385C>G	gnomAD
ZEB2	A0A1B0GV02	p.Tyr627Ter	rs1553961660	stop gained	-	NC_000002.12:g.144399381G>C	-
ZEB2	A0A1B0GV02	p.Met631Leu	rs1461836285	missense variant	-	NC_000002.12:g.144399371T>A	TOPMed
ZEB2	A0A1B0GV02	p.Glu633Lys	rs781171719	missense variant	-	NC_000002.12:g.144399365C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Glu634Ter	rs1553961655	stop gained	-	NC_000002.12:g.144399362C>A	-
ZEB2	A0A1B0GV02	p.Ala637Val	rs1206446041	missense variant	-	NC_000002.12:g.144399352G>A	gnomAD
ZEB2	A0A1B0GV02	p.Gln640His	rs757485792	missense variant	-	NC_000002.12:g.144399342C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.His642Arg	rs1448603705	missense variant	-	NC_000002.12:g.144399337T>C	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ile645Thr	rs374705196	missense variant	-	NC_000002.12:g.144399328A>G	ESP,TOPMed
ZEB2	A0A1B0GV02	p.Ile645Val	rs760782001	missense variant	-	NC_000002.12:g.144399329T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn648Ser	rs1192746481	missense variant	-	NC_000002.12:g.144399319T>C	gnomAD
ZEB2	A0A1B0GV02	p.Asn648Lys	rs1487453001	missense variant	-	NC_000002.12:g.144399318G>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly651Glu	rs794727923	missense variant	-	NC_000002.12:g.144399310C>T	gnomAD
ZEB2	A0A1B0GV02	p.Gly651Arg	rs727504224	missense variant	-	NC_000002.12:g.144399311C>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly651Ter	rs727504224	stop gained	-	NC_000002.12:g.144399311C>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val652Asp	rs730881176	missense variant	-	NC_000002.12:g.144399307A>T	gnomAD
ZEB2	A0A1B0GV02	p.Val652Gly	rs730881176	missense variant	-	NC_000002.12:g.144399307A>C	gnomAD
ZEB2	A0A1B0GV02	p.Phe653Ser	rs760017521	missense variant	-	NC_000002.12:g.144399304A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Val654Phe	rs1413108582	missense variant	-	NC_000002.12:g.144399302C>A	gnomAD
ZEB2	A0A1B0GV02	p.Val654Leu	rs1413108582	missense variant	-	NC_000002.12:g.144399302C>G	gnomAD
ZEB2	A0A1B0GV02	p.Asn656Ser	rs771291597	missense variant	-	NC_000002.12:g.144399295T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Leu659Pro	rs772874556	missense variant	-	NC_000002.12:g.144399286A>G	ExAC
ZEB2	A0A1B0GV02	p.Leu660Arg	rs1486214432	missense variant	-	NC_000002.12:g.144399283A>C	TOPMed
ZEB2	A0A1B0GV02	p.Leu661Phe	rs769385296	missense variant	-	NC_000002.12:g.144399279C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser662Pro	rs1248303369	missense variant	-	NC_000002.12:g.144399278A>G	gnomAD
ZEB2	A0A1B0GV02	p.Val664Ala	rs780637261	missense variant	-	NC_000002.12:g.144399271A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Val664Leu	rs747667101	missense variant	-	NC_000002.12:g.144399272C>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val664Leu	rs747667101	missense variant	-	NC_000002.12:g.144399272C>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser666Pro	rs1217656752	missense variant	-	NC_000002.12:g.144399266A>G	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Lys668Arg	rs370315351	missense variant	-	NC_000002.12:g.144399259T>C	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Met670Val	rs746922285	missense variant	-	NC_000002.12:g.144399254T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ile674Leu	rs730881177	missense variant	-	NC_000002.12:g.144399242T>G	-
ZEB2	A0A1B0GV02	p.Asn675Thr	rs1057520817	missense variant	-	NC_000002.12:g.144399238T>G	-
ZEB2	A0A1B0GV02	p.Tyr677His	rs1295293400	missense variant	-	NC_000002.12:g.144399233A>G	gnomAD
ZEB2	A0A1B0GV02	p.Lys678Arg	rs1387402564	missense variant	-	NC_000002.12:g.144399229T>C	TOPMed
ZEB2	A0A1B0GV02	p.Lys678Glu	rs1302375228	missense variant	-	NC_000002.12:g.144399230T>C	gnomAD
ZEB2	A0A1B0GV02	p.Asp679Glu	rs750288966	missense variant	-	NC_000002.12:g.144399225G>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.His680Gln	rs1290881093	missense variant	-	NC_000002.12:g.144399222G>C	gnomAD
ZEB2	A0A1B0GV02	p.Met681Val	rs1426184201	missense variant	-	NC_000002.12:g.144399221T>C	TOPMed
ZEB2	A0A1B0GV02	p.Met681Thr	rs778110458	missense variant	-	NC_000002.12:g.144399220A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Val683Ala	rs1349377681	missense variant	-	NC_000002.12:g.144399214A>G	gnomAD
ZEB2	A0A1B0GV02	p.Ala686Gly	rs1426614055	missense variant	-	NC_000002.12:g.144399205G>C	gnomAD
ZEB2	A0A1B0GV02	p.Met690Val	rs1388932284	missense variant	-	NC_000002.12:g.144399194T>C	gnomAD
ZEB2	A0A1B0GV02	p.Met692Val	rs772848092	missense variant	-	NC_000002.12:g.144399188T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Met692Leu	rs772848092	missense variant	-	NC_000002.12:g.144399188T>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Glu693Asp	rs767506087	missense variant	-	NC_000002.12:g.144399183C>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asp697Asn	rs1030170615	missense variant	-	NC_000002.12:g.144399173C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu700Pro	rs1274843979	missense variant	-	NC_000002.12:g.144399163A>G	gnomAD
ZEB2	A0A1B0GV02	p.Ile704Asn	rs1290102590	missense variant	-	NC_000002.12:g.144399151A>T	TOPMed
ZEB2	A0A1B0GV02	p.AlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsn705AlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProSerCysGlyProSerSerGlyIleCysGluGlyMetValTerThrThrLysSerLeuProValLeuLysPheGlnValProIleProGlyLysLysLeuGlnAlaValSerSerGlnUnk	rs1553961598	stop gained	-	NC_000002.12:g.144399035_144399149dup	-
ZEB2	A0A1B0GV02	p.Val706Met	rs769486815	missense variant	-	NC_000002.12:g.144399146C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Trp716Cys	rs1217706786	missense variant	-	NC_000002.12:g.144399114C>A	gnomAD
ZEB2	A0A1B0GV02	p.Trp716Ter	rs1553961610	stop gained	-	NC_000002.12:g.144399115C>T	-
ZEB2	A0A1B0GV02	p.Arg720Ter	rs137852981	stop gained	-	NC_000002.12:g.144399104G>A	-
ZEB2	A0A1B0GV02	p.Arg720Gln	rs147693839	missense variant	-	NC_000002.12:g.144399103C>T	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Tyr723Cys	rs780113721	missense variant	-	NC_000002.12:g.144399094T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Tyr725Ter	rs1057518156	stop gained	-	NC_000002.12:g.144399087G>C	-
ZEB2	A0A1B0GV02	p.Ser726Thr	rs1430909297	missense variant	-	NC_000002.12:g.144399086A>T	gnomAD
ZEB2	A0A1B0GV02	p.Ser730Ala	rs1361274533	missense variant	-	NC_000002.12:g.144399074A>C	TOPMed
ZEB2	A0A1B0GV02	p.Ser732Thr	rs1244099058	missense variant	-	NC_000002.12:g.144399068A>T	TOPMed
ZEB2	A0A1B0GV02	p.Ser732Phe	rs1174325176	missense variant	-	NC_000002.12:g.144399067G>A	gnomAD
ZEB2	A0A1B0GV02	p.Ser737Pro	rs1432950265	missense variant	-	NC_000002.12:g.144399053A>G	gnomAD
ZEB2	A0A1B0GV02	p.Pro739Leu	rs112581563	missense variant	-	NC_000002.12:g.144399046G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro746Leu	rs1240429329	missense variant	-	NC_000002.12:g.144399025G>A	TOPMed
ZEB2	A0A1B0GV02	p.Lys749Glu	rs1464848342	missense variant	-	NC_000002.12:g.144399017T>C	TOPMed
ZEB2	A0A1B0GV02	p.Asp750Gly	rs1248940289	missense variant	-	NC_000002.12:g.144399013T>C	gnomAD
ZEB2	A0A1B0GV02	p.Pro754Leu	rs1181377412	missense variant	-	NC_000002.12:g.144399001G>A	gnomAD
ZEB2	A0A1B0GV02	p.Pro760Ser	rs144154908	missense variant	-	NC_000002.12:g.144398984G>A	1000Genomes,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.ProMet760ProVal	rs1060500654	missense variant	-	NC_000002.12:g.144398981_144398982delinsCG	-
ZEB2	A0A1B0GV02	p.Pro760Arg	rs748324511	missense variant	-	NC_000002.12:g.144398983G>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Met761Val	rs139191491	missense variant	-	NC_000002.12:g.144398981T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser763Pro	rs1348740028	missense variant	-	NC_000002.12:g.144398975A>G	gnomAD
ZEB2	A0A1B0GV02	p.Ser763Phe	rs1287731625	missense variant	-	NC_000002.12:g.144398974G>A	gnomAD
ZEB2	A0A1B0GV02	p.Ile764Val	rs730881178	missense variant	-	NC_000002.12:g.144398972T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr765Ile	rs766844554	missense variant	-	NC_000002.12:g.144398968G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ile769Thr	rs1176753378	missense variant	-	NC_000002.12:g.144398956A>G	gnomAD
ZEB2	A0A1B0GV02	p.Ile769Val	rs112005830	missense variant	-	NC_000002.12:g.144398957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu772Phe	rs1160664411	missense variant	-	NC_000002.12:g.144398948G>A	TOPMed
ZEB2	A0A1B0GV02	p.Ser775Gly	rs730881196	missense variant	-	NC_000002.12:g.144398939T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr777Met	rs143438888	missense variant	-	NC_000002.12:g.144398932G>A	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr777Arg	rs143438888	missense variant	-	NC_000002.12:g.144398932G>C	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asn778Asp	rs1482818663	missense variant	-	NC_000002.12:g.144398930T>C	gnomAD
ZEB2	A0A1B0GV02	p.Cys779Phe	rs745811811	missense variant	-	NC_000002.12:g.144398926C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asp780Val	rs774127506	missense variant	-	NC_000002.12:g.144398923T>A	ExAC,TOPMed
ZEB2	A0A1B0GV02	p.Pro782Arg	rs1197498677	missense variant	-	NC_000002.12:g.144398917G>C	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu783Pro	rs1327269796	missense variant	-	NC_000002.12:g.144398914A>G	gnomAD
ZEB2	A0A1B0GV02	p.Arg784Gly	rs748354087	missense variant	-	NC_000002.12:g.144398912T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr786Ser	rs867243713	missense variant	-	NC_000002.12:g.144398906T>A	-
ZEB2	A0A1B0GV02	p.Pro788Leu	rs1311266667	missense variant	-	NC_000002.12:g.144398899G>A	gnomAD
ZEB2	A0A1B0GV02	p.His790Tyr	rs1395904812	missense variant	-	NC_000002.12:g.144398894G>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.His790Asn	rs1395904812	missense variant	-	NC_000002.12:g.144398894G>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr792Ile	rs755233964	missense variant	-	NC_000002.12:g.144398887G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Thr792Ala	rs1380361690	missense variant	-	NC_000002.12:g.144398888T>C	gnomAD
ZEB2	A0A1B0GV02	p.Asn793Ser	rs1433336470	missense variant	-	NC_000002.12:g.144398884T>C	gnomAD
ZEB2	A0A1B0GV02	p.Pro796Ser	rs1157918568	missense variant	-	NC_000002.12:g.144398876G>A	gnomAD
ZEB2	A0A1B0GV02	p.Val797Ala	rs780169349	missense variant	-	NC_000002.12:g.144398872A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asp801Gly	rs1553961558	missense variant	-	NC_000002.12:g.144398860T>C	-
ZEB2	A0A1B0GV02	p.Asp801Glu	rs758848641	missense variant	-	NC_000002.12:g.144398859G>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.His802Tyr	rs587784564	missense variant	-	NC_000002.12:g.144398858G>A	gnomAD
ZEB2	A0A1B0GV02	p.His802Asn	rs587784564	missense variant	-	NC_000002.12:g.144398858G>T	gnomAD
ZEB2	A0A1B0GV02	p.Arg804Lys	rs1162632837	missense variant	-	NC_000002.12:g.144398851C>T	gnomAD
ZEB2	A0A1B0GV02	p.Asn806Ser	rs750936389	missense variant	-	NC_000002.12:g.144398845T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser814Pro	rs730881197	missense variant	-	NC_000002.12:g.144398822A>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser815Thr	rs763645204	missense variant	-	NC_000002.12:g.144398819A>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Thr816Ile	rs760462459	missense variant	-	NC_000002.12:g.144398815G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn820Lys	rs759505392	missense variant	-	NC_000002.12:g.144398802G>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.His822Arg	rs201227541	missense variant	-	NC_000002.12:g.144398797T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Phe831Leu	rs770951243	missense variant	-	NC_000002.12:g.144398769G>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu834Val	rs749005116	missense variant	-	NC_000002.12:g.144398761T>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu835Asp	rs773130605	missense variant	-	NC_000002.12:g.144398757C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln837His	rs768856831	missense variant	-	NC_000002.12:g.144398751C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Met849Thr	rs1553961536	missense variant	-	NC_000002.12:g.144398716A>G	-
ZEB2	A0A1B0GV02	p.Met849Val	rs1165356349	missense variant	-	NC_000002.12:g.144398717T>C	gnomAD
ZEB2	A0A1B0GV02	p.Glu851Asp	rs1446211072	missense variant	-	NC_000002.12:g.144398709T>A	gnomAD
ZEB2	A0A1B0GV02	p.Pro852Ser	rs780045123	missense variant	-	NC_000002.12:g.144398708G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser854Asn	rs730881198	missense variant	-	NC_000002.12:g.144398701C>T	-
ZEB2	A0A1B0GV02	p.Ile855Val	rs1389263951	missense variant	-	NC_000002.12:g.144398699T>C	gnomAD
ZEB2	A0A1B0GV02	p.Ile856Thr	rs746006843	missense variant	-	NC_000002.12:g.144398695A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ala857Asp	rs730881179	missense variant	-	NC_000002.12:g.144398692G>T	-
ZEB2	A0A1B0GV02	p.Thr858Ala	rs1490526407	missense variant	-	NC_000002.12:g.144398690T>C	gnomAD
ZEB2	A0A1B0GV02	p.Thr862Ile	rs779252689	missense variant	-	NC_000002.12:g.144398677G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala864Thr	rs1350075073	missense variant	-	NC_000002.12:g.144398672C>T	TOPMed
ZEB2	A0A1B0GV02	p.Ala864Gly	rs757845450	missense variant	-	NC_000002.12:g.144398671G>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser865Asn	rs1341937761	missense variant	-	NC_000002.12:g.144398668C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser865Thr	rs1341937761	missense variant	-	NC_000002.12:g.144398668C>G	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser868Ile	rs778296261	missense variant	-	NC_000002.12:g.144398659C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Leu869Phe	rs941735597	missense variant	-	NC_000002.12:g.144398655T>G	TOPMed
ZEB2	A0A1B0GV02	p.Asp870Tyr	rs755758539	missense variant	-	NC_000002.12:g.144398654C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.His871Gln	rs557767273	missense variant	-	NC_000002.12:g.144398649A>T	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn872Ser	rs1298733880	missense variant	-	NC_000002.12:g.144398647T>C	gnomAD
ZEB2	A0A1B0GV02	p.Asn872Lys	rs759097498	missense variant	-	NC_000002.12:g.144398646G>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser875Pro	rs751120645	missense variant	-	NC_000002.12:g.144398639A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser875Phe	rs529220318	missense variant	-	NC_000002.12:g.144398638G>A	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser875Tyr	rs529220318	missense variant	-	NC_000002.12:g.144398638G>T	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser877Ter	rs137852982	stop gained	-	NC_000002.12:g.144398632G>C	-
ZEB2	A0A1B0GV02	p.Asn880Lys	rs904620951	missense variant	-	NC_000002.12:g.144398622G>C	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asp882Glu	rs1463332216	missense variant	-	NC_000002.12:g.144398616A>C	gnomAD
ZEB2	A0A1B0GV02	p.Glu893Lys	rs921397888	missense variant	-	NC_000002.12:g.144398585C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser895Ter	rs1553961516	stop gained	-	NC_000002.12:g.144398578G>T	-
ZEB2	A0A1B0GV02	p.Asn896Lys	rs760849906	missense variant	-	NC_000002.12:g.144398574A>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser897Leu	rs1482981133	missense variant	-	NC_000002.12:g.144398572G>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asn898Lys	rs775663946	missense variant	-	NC_000002.12:g.144398568A>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn899Lys	rs745927130	missense variant	-	NC_000002.12:g.144398565A>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asn899Tyr	rs772317889	missense variant	-	NC_000002.12:g.144398567T>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn899Thr	rs1477010525	missense variant	-	NC_000002.12:g.144398566T>G	TOPMed
ZEB2	A0A1B0GV02	p.Leu900Arg	rs730881199	missense variant	-	NC_000002.12:g.144398563A>C	-
ZEB2	A0A1B0GV02	p.Asp901Gly	rs779103467	missense variant	-	NC_000002.12:g.144398560T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn902Lys	rs1345627884	missense variant	-	NC_000002.12:g.144398556G>C	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser904Ile	rs771283992	missense variant	-	NC_000002.12:g.144398551C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn906His	rs794727922	missense variant	-	NC_000002.12:g.144398546T>G	-
ZEB2	A0A1B0GV02	p.Val908Met	rs550047043	missense variant	-	NC_000002.12:g.144398540C>T	1000Genomes,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Val908Leu	rs550047043	missense variant	-	NC_000002.12:g.144398540C>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Phe909Leu	rs1392973782	missense variant	-	NC_000002.12:g.144398535G>C	gnomAD
ZEB2	A0A1B0GV02	p.Ser910Arg	rs756567435	missense variant	-	NC_000002.12:g.144398532G>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ala916Val	rs1057147593	missense variant	-	NC_000002.12:g.144398515G>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro918His	rs1470387877	missense variant	-	NC_000002.12:g.144398509G>T	gnomAD
ZEB2	A0A1B0GV02	p.Pro918Leu	rs1470387877	missense variant	-	NC_000002.12:g.144398509G>A	gnomAD
ZEB2	A0A1B0GV02	p.Gln926Ter	rs794727924	stop gained	-	NC_000002.12:g.144398486G>A	gnomAD
ZEB2	A0A1B0GV02	p.Gln926Glu	rs794727924	missense variant	-	NC_000002.12:g.144398486G>C	gnomAD
ZEB2	A0A1B0GV02	p.Ala928Thr	rs730881200	missense variant	-	NC_000002.12:g.144398480C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala928Ser	rs730881200	missense variant	-	NC_000002.12:g.144398480C>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala928Val	rs1032383716	missense variant	-	NC_000002.12:g.144398479G>A	TOPMed
ZEB2	A0A1B0GV02	p.Pro930Leu	rs1255855620	missense variant	-	NC_000002.12:g.144398473G>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro930Ser	rs751024252	missense variant	-	NC_000002.12:g.144398474G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro930Ala	rs751024252	missense variant	-	NC_000002.12:g.144398474G>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro931Ser	rs375527889	missense variant	-	NC_000002.12:g.144398471G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala932Thr	rs1323891287	missense variant	-	NC_000002.12:g.144398468C>T	gnomAD
ZEB2	A0A1B0GV02	p.Met935Val	rs762734976	missense variant	-	NC_000002.12:g.144398459T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Met935Thr	rs730881201	missense variant	-	NC_000002.12:g.144398458A>G	-
ZEB2	A0A1B0GV02	p.Pro936Thr	rs1226087957	missense variant	-	NC_000002.12:g.144398456G>T	gnomAD
ZEB2	A0A1B0GV02	p.Gln939Ter	rs1038288183	stop gained	-	NC_000002.12:g.144398447G>A	-
ZEB2	A0A1B0GV02	p.Ser941Gly	rs1057520707	missense variant	-	NC_000002.12:g.144398441T>C	TOPMed
ZEB2	A0A1B0GV02	p.Ser941Thr	rs545434577	missense variant	-	NC_000002.12:g.144398440C>G	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ile942Asn	rs1444247282	missense variant	-	NC_000002.12:g.144398437A>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ile942Thr	rs1444247282	missense variant	-	NC_000002.12:g.144398437A>G	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Arg946Ter	rs587784566	stop gained	-	NC_000002.12:g.144398426G>A	-
ZEB2	A0A1B0GV02	p.Arg946Gln	rs147716561	missense variant	-	NC_000002.12:g.144398425C>T	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro947Ser	rs776473212	missense variant	-	NC_000002.12:g.144398423G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro949Thr	rs1166486779	missense variant	-	NC_000002.12:g.144398417G>T	TOPMed
ZEB2	A0A1B0GV02	p.Gly950Glu	rs1408659659	missense variant	-	NC_000002.12:g.144398413C>T	gnomAD
ZEB2	A0A1B0GV02	p.Met954Val	rs774228448	missense variant	-	NC_000002.12:g.144398402T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Pro958Ser	rs1165663655	missense variant	-	NC_000002.12:g.144398390G>A	TOPMed
ZEB2	A0A1B0GV02	p.Met960Thr	rs201902790	missense variant	-	NC_000002.12:g.144398383A>G	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala961Gly	rs1036306924	missense variant	-	NC_000002.12:g.144398380G>C	TOPMed
ZEB2	A0A1B0GV02	p.Thr963Ala	rs1184670118	missense variant	-	NC_000002.12:g.144398375T>C	gnomAD
ZEB2	A0A1B0GV02	p.Gly967Arg	rs1206387289	missense variant	-	NC_000002.12:g.144398363C>T	gnomAD
ZEB2	A0A1B0GV02	p.Phe971Ser	rs1328776628	missense variant	-	NC_000002.12:g.144398350A>G	TOPMed
ZEB2	A0A1B0GV02	p.Ala972Pro	rs1433450694	missense variant	-	NC_000002.12:g.144398348C>G	TOPMed
ZEB2	A0A1B0GV02	p.Met974Val	rs1297343922	missense variant	-	NC_000002.12:g.144398342T>C	TOPMed
ZEB2	A0A1B0GV02	p.Arg977Thr	rs151256895	missense variant	-	NC_000002.12:g.144398332C>G	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Arg982Trp	rs1354236085	missense variant	-	NC_000002.12:g.144398318G>A	gnomAD
ZEB2	A0A1B0GV02	p.Arg982Gln	rs371509136	missense variant	-	NC_000002.12:g.144398317C>T	ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly985Arg	rs1384697118	missense variant	-	NC_000002.12:g.144398309C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu990Ter	rs797046120	stop gained	-	NC_000002.12:g.144396585A>T	-
ZEB2	A0A1B0GV02	p.Leu991Ile	rs763325552	missense variant	-	NC_000002.12:g.144396583G>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu991Phe	rs763325552	missense variant	-	NC_000002.12:g.144396583G>A	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ala994Thr	rs1323171469	missense variant	-	NC_000002.12:g.144396574C>T	gnomAD
ZEB2	A0A1B0GV02	p.Gln995Ter	rs1057518185	stop gained	-	NC_000002.12:g.144396571G>A	-
ZEB2	A0A1B0GV02	p.Asp996Glu	rs1263988535	missense variant	-	NC_000002.12:g.144396566G>T	gnomAD
ZEB2	A0A1B0GV02	p.Tyr997His	rs773369288	missense variant	-	NC_000002.12:g.144396565A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Met998Thr	rs142280503	missense variant	-	NC_000002.12:g.144396561A>G	ESP,ExAC
ZEB2	A0A1B0GV02	p.Leu1001Gln	rs1388428277	missense variant	-	NC_000002.12:g.144396552A>T	TOPMed
ZEB2	A0A1B0GV02	p.Asp1003Tyr	rs863224942	missense variant	-	NC_000002.12:g.144396547C>A	-
ZEB2	A0A1B0GV02	p.Met1004Val	rs777220598	missense variant	-	NC_000002.12:g.144396544T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser1007Pro	rs1370024483	missense variant	-	NC_000002.12:g.144396535A>G	TOPMed
ZEB2	A0A1B0GV02	p.Ser1009Phe	rs143474223	missense variant	-	NC_000002.12:g.144396528G>A	ESP,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Arg1013Cys	rs771693391	missense variant	-	NC_000002.12:g.144396517G>A	ExAC
ZEB2	A0A1B0GV02	p.Arg1013His	rs776367143	missense variant	-	NC_000002.12:g.144396516C>T	TOPMed
ZEB2	A0A1B0GV02	p.Lys1014Arg	rs745521735	missense variant	-	NC_000002.12:g.144396513T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Lys1018Arg	rs200287036	missense variant	-	NC_000002.12:g.144396501T>C	1000Genomes
ZEB2	A0A1B0GV02	p.Thr1019Ile	rs1266095472	missense variant	-	NC_000002.12:g.144396498G>A	TOPMed
ZEB2	A0A1B0GV02	p.Glu1020Lys	rs905118258	missense variant	-	NC_000002.12:g.144396496C>T	-
ZEB2	A0A1B0GV02	p.Met1023Thr	rs553833674	missense variant	-	NC_000002.12:g.144396486A>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Phe1033Cys	rs1553961332	missense variant	-	NC_000002.12:g.144396456A>C	-
ZEB2	A0A1B0GV02	p.Leu1039Val	rs1297451721	missense variant	-	NC_000002.12:g.144396439G>C	gnomAD
ZEB2	A0A1B0GV02	p.Arg1041Ter	rs886041989	stop gained	-	NC_000002.12:g.144396433G>A	-
ZEB2	A0A1B0GV02	p.Gln1055Lys	rs903815010	missense variant	-	NC_000002.12:g.144390008G>T	TOPMed
ZEB2	A0A1B0GV02	p.Lys1062Ter	rs1553960793	stop gained	-	NC_000002.12:g.144389987T>A	-
ZEB2	A0A1B0GV02	p.His1065Tyr	rs1553960788	missense variant	-	NC_000002.12:g.144389978G>A	-
ZEB2	A0A1B0GV02	p.Glu1069Lys	rs730881202	missense variant	-	NC_000002.12:g.144389966C>T	-
ZEB2	A0A1B0GV02	p.His1070Arg	rs397515449	missense variant	-	NC_000002.12:g.144389962T>C	-
ZEB2	A0A1B0GV02	p.Ser1071Ter	rs797046121	stop gained	-	NC_000002.12:g.144389959G>T	-
ZEB2	A0A1B0GV02	p.Arg1072Ser	rs587784567	missense variant	-	NC_000002.12:g.144389955C>G	-
ZEB2	A0A1B0GV02	p.His1074Pro	rs1114167349	missense variant	-	NC_000002.12:g.144389950T>G	-
ZEB2	A0A1B0GV02	p.Ser1075Leu	rs1226638635	missense variant	-	NC_000002.12:g.144389947G>A	gnomAD
ZEB2	A0A1B0GV02	p.Tyr1080Cys	rs1135402759	missense variant	-	NC_000002.12:g.144389932T>C	-
ZEB2	A0A1B0GV02	p.Cys1082Tyr	rs1135401790	missense variant	-	NC_000002.12:g.144389926C>T	-
ZEB2	A0A1B0GV02	p.Gly1086Ser	rs753893234	missense variant	-	NC_000002.12:g.144389915C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Arg1088Cys	rs1301244969	missense variant	-	NC_000002.12:g.144389909G>A	gnomAD
ZEB2	A0A1B0GV02	p.Ser1092Ter	rs1423851170	stop gained	-	NC_000002.12:g.144389896G>T	gnomAD
ZEB2	A0A1B0GV02	p.Ser1094Ter	rs1553960778	stop gained	-	NC_000002.12:g.144389890G>T	-
ZEB2	A0A1B0GV02	p.Ser1096Pro	rs397515448	missense variant	-	NC_000002.12:g.144389885A>G	-
ZEB2	A0A1B0GV02	p.Cys1106Ser	rs886044396	missense variant	-	NC_000002.12:g.144389855A>T	-
ZEB2	A0A1B0GV02	p.Glu1114Asp	rs1553960775	missense variant	-	NC_000002.12:g.144389829T>G	-
ZEB2	A0A1B0GV02	p.Glu1117Asp	rs1410904027	missense variant	-	NC_000002.12:g.144389820C>G	TOPMed
ZEB2	A0A1B0GV02	p.Arg1118Gly	rs730881203	missense variant	-	NC_000002.12:g.144389819G>C	-
ZEB2	A0A1B0GV02	p.Arg1121Leu	rs762526905	missense variant	-	NC_000002.12:g.144389809C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Arg1121His	rs762526905	missense variant	-	NC_000002.12:g.144389809C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly1124Arg	rs918037210	missense variant	-	NC_000002.12:g.144389801C>G	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu1126Val	rs1395508810	missense variant	-	NC_000002.12:g.144389795A>C	TOPMed
ZEB2	A0A1B0GV02	p.Glu1127Gly	rs1299113124	missense variant	-	NC_000002.12:g.144389791T>C	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu1127Lys	rs1553960767	missense variant	-	NC_000002.12:g.144389792C>T	-
ZEB2	A0A1B0GV02	p.Pro1128Arg	rs1385679012	missense variant	-	NC_000002.12:g.144389788G>C	gnomAD
ZEB2	A0A1B0GV02	p.Pro1128Thr	rs1338018838	missense variant	-	NC_000002.12:g.144389789G>T	TOPMed
ZEB2	A0A1B0GV02	p.Glu1130Lys	rs769219699	missense variant	-	NC_000002.12:g.144389783C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Leu1131Val	rs748072014	missense variant	-	NC_000002.12:g.144389780G>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asn1134Lys	rs1288140327	missense variant	-	NC_000002.12:g.144389769G>T	TOPMed
ZEB2	A0A1B0GV02	p.Arg1135Gln	rs1346483037	missense variant	-	NC_000002.12:g.144389767C>T	TOPMed
ZEB2	A0A1B0GV02	p.Leu1138Met	rs730881204	missense variant	-	NC_000002.12:g.144389759A>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln1139Glu	rs768758098	missense variant	-	NC_000002.12:g.144389756G>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ser1140Thr	rs1463669256	missense variant	-	NC_000002.12:g.144389752C>G	gnomAD
ZEB2	A0A1B0GV02	p.Pro1143His	rs780004720	missense variant	-	NC_000002.12:g.144389743G>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gln1144Arg	rs137852983	missense variant	-	NC_000002.12:g.144389740T>C	-
ZEB2	A0A1B0GV02	p.Gln1144His	rs1332911302	missense variant	-	NC_000002.12:g.144389739C>G	gnomAD
ZEB2	A0A1B0GV02	p.Tyr1146Asn	rs757485878	missense variant	-	NC_000002.12:g.144389735A>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Met1155Ile	rs1437643472	missense variant	-	NC_000002.12:g.144389706C>T	gnomAD
ZEB2	A0A1B0GV02	p.Asp1158Tyr	rs1251604500	missense variant	-	NC_000002.12:g.144389699C>A	gnomAD
ZEB2	A0A1B0GV02	p.Ser1161Arg	rs1060500655	missense variant	-	NC_000002.12:g.144389688G>C	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu1162Lys	rs730881205	missense variant	-	NC_000002.12:g.144389687C>T	-
ZEB2	A0A1B0GV02	p.Glu1166Asp	rs1222412726	missense variant	-	NC_000002.12:g.144389673C>G	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Glu1168Gly	rs1276566236	missense variant	-	NC_000002.12:g.144389668T>C	gnomAD
ZEB2	A0A1B0GV02	p.Gly1169Val	rs1236714413	missense variant	-	NC_000002.12:g.144389665C>A	gnomAD
ZEB2	A0A1B0GV02	p.Gly1172Val	rs755538065	missense variant	-	NC_000002.12:g.144389656C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Tyr1173His	rs751864471	missense variant	-	NC_000002.12:g.144389654A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly1174Arg	rs762628069	missense variant	-	NC_000002.12:g.144389651C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Leu1176Met	rs772764893	missense variant	-	NC_000002.12:g.144389645G>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Leu1176Pro	rs1553960747	missense variant	-	NC_000002.12:g.144389644A>G	-
ZEB2	A0A1B0GV02	p.Gly1177Asp	rs764991725	missense variant	-	NC_000002.12:g.144389641C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly1177Arg	rs1480636573	missense variant	-	NC_000002.12:g.144389642C>G	TOPMed
ZEB2	A0A1B0GV02	p.Asp1180Tyr	rs761202423	missense variant	-	NC_000002.12:g.144389633C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asp1180Asn	rs761202423	missense variant	-	NC_000002.12:g.144389633C>T	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Gly1181Cys	rs776351453	missense variant	-	NC_000002.12:g.144389630C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Phe1185Leu	rs1280059432	missense variant	-	NC_000002.12:g.144389616G>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Phe1185Val	rs1202586650	missense variant	-	NC_000002.12:g.144389618A>C	gnomAD
ZEB2	A0A1B0GV02	p.Phe1185Leu	rs1280059432	missense variant	-	NC_000002.12:g.144389616G>C	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Phe1185Tyr	rs1461383220	missense variant	-	NC_000002.12:g.144389617A>T	gnomAD
ZEB2	A0A1B0GV02	p.Glu1188Lys	rs371268185	missense variant	-	NC_000002.12:g.144389609C>T	ESP,ExAC
ZEB2	A0A1B0GV02	p.Ser1196Thr	rs1349953899	missense variant	-	NC_000002.12:g.144389584C>G	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser1196Asn	rs1349953899	missense variant	-	NC_000002.12:g.144389584C>T	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro1201Ser	rs951998011	missense variant	-	NC_000002.12:g.144389570G>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Pro1201His	rs568337755	missense variant	-	NC_000002.12:g.144389569G>T	1000Genomes,ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Ile1204Thr	rs1238900874	missense variant	-	NC_000002.12:g.144389560A>G	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ile1204Val	rs1360979536	missense variant	-	NC_000002.12:g.144389561T>C	gnomAD
ZEB2	A0A1B0GV02	p.Arg1205Gly	rs756424812	missense variant	-	NC_000002.12:g.144389558G>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly1211Val	rs748213160	missense variant	-	NC_000002.12:g.144389539C>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.His1213Arg	rs730881181	missense variant	-	NC_000002.12:g.144389533T>C	-
ZEB2	A0A1B0GV02	p.Ser1214Phe	rs1456601363	missense variant	-	NC_000002.12:g.144389530G>A	TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Met1215Thr	rs781264255	missense variant	-	NC_000002.12:g.144389527A>G	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asp1217Gly	rs752093966	missense variant	-	NC_000002.12:g.144389521T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Asp1217Ala	rs752093966	missense variant	-	NC_000002.12:g.144389521T>G	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Ser1219Leu	rs766682838	missense variant	-	NC_000002.12:g.144389515G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Met1224Leu	rs1257742591	missense variant	-	NC_000002.12:g.144389501T>A	gnomAD
ZEB2	A0A1B0GV02	p.Glu1225Gly	rs1273805127	missense variant	-	NC_000002.12:g.144389497T>C	TOPMed
ZEB2	A0A1B0GV02	p.Ser1228Leu	rs758670673	missense variant	-	NC_000002.12:g.144389488G>A	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Asp1229Glu	rs1357018488	missense variant	-	NC_000002.12:g.144389484G>T	gnomAD
ZEB2	A0A1B0GV02	p.Asp1229Asn	rs750844030	missense variant	-	NC_000002.12:g.144389486C>T	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.His1230Arg	rs1224398411	missense variant	-	NC_000002.12:g.144389482T>C	TOPMed
ZEB2	A0A1B0GV02	p.Glu1232Gly	rs1200753552	missense variant	-	NC_000002.12:g.144389476T>C	gnomAD
ZEB2	A0A1B0GV02	p.Asn1234Asp	rs1266457259	missense variant	-	NC_000002.12:g.144389471T>C	TOPMed
ZEB2	A0A1B0GV02	p.Asn1234Ser	rs1290683549	missense variant	-	NC_000002.12:g.144389470T>C	gnomAD
ZEB2	A0A1B0GV02	p.Met1235Val	rs761537097	missense variant	-	NC_000002.12:g.144389468T>C	ExAC,gnomAD
ZEB2	A0A1B0GV02	p.Met1235Thr	rs1194095971	missense variant	-	NC_000002.12:g.144389467A>G	TOPMed
ZEB2	A0A1B0GV02	p.Asp1237Gly	rs753328374	missense variant	-	NC_000002.12:g.144389461T>C	ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Gly1238Ser	rs1474465995	missense variant	-	NC_000002.12:g.144389459C>T	TOPMed
ZEB2	A0A1B0GV02	p.Met1239Val	rs199951665	missense variant	-	NC_000002.12:g.144389456T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB2	A0A1B0GV02	p.Met1239Thr	rs1327048436	missense variant	-	NC_000002.12:g.144389455A>G	gnomAD
ZEB2	A0A1B0GV02	p.Ter1240Gln	rs986922039	stop lost	-	NC_000002.12:g.144389453A>G	TOPMed
MYBPHL	A2RUH7	p.Ala3Gly	rs933379923	missense variant	-	NC_000001.11:g.109306984G>C	TOPMed
MYBPHL	A2RUH7	p.Ala3Glu	rs933379923	missense variant	-	NC_000001.11:g.109306984G>T	TOPMed
MYBPHL	A2RUH7	p.Ala4Val	rs774909164	missense variant	-	NC_000001.11:g.109306981G>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Thr5Ala	rs769017000	missense variant	-	NC_000001.11:g.109306979T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ala6Val	rs149020854	missense variant	-	NC_000001.11:g.109306975G>A	ESP,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala6Thr	rs527490774	missense variant	-	NC_000001.11:g.109306976C>T	1000Genomes,ExAC,gnomAD
MYBPHL	A2RUH7	p.Pro7Ser	rs1270883631	missense variant	-	NC_000001.11:g.109306973G>A	gnomAD
MYBPHL	A2RUH7	p.Pro7Leu	rs368749988	missense variant	-	NC_000001.11:g.109306972G>A	1000Genomes,ExAC,gnomAD
MYBPHL	A2RUH7	p.Ala11Glu	rs752249870	missense variant	-	NC_000001.11:g.109306960G>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ala11Thr	rs925303468	missense variant	-	NC_000001.11:g.109306961C>T	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly12Arg	rs1206977038	missense variant	-	NC_000001.11:g.109306958C>T	TOPMed
MYBPHL	A2RUH7	p.Lys14Glu	rs1289526981	missense variant	-	NC_000001.11:g.109306952T>C	TOPMed
MYBPHL	A2RUH7	p.Val17Met	rs1386004395	missense variant	-	NC_000001.11:g.109306943C>T	gnomAD
MYBPHL	A2RUH7	p.Lys18Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109306940T>C	NCI-TCGA
MYBPHL	A2RUH7	p.Ser21Arg	rs1328185709	missense variant	-	NC_000001.11:g.109306929G>C	gnomAD
MYBPHL	A2RUH7	p.Pro22Ala	rs1462098640	missense variant	-	NC_000001.11:g.109306928G>C	gnomAD
MYBPHL	A2RUH7	p.Ala23Val	rs149896314	missense variant	-	NC_000001.11:g.109306924G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala23Glu	rs149896314	missense variant	-	NC_000001.11:g.109306924G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Glu26Lys	COSM3801183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109306916C>T	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Pro27Ser	rs531539132	missense variant	-	NC_000001.11:g.109306913G>A	1000Genomes,ExAC,gnomAD
MYBPHL	A2RUH7	p.Gln29Ter	rs1435209438	stop gained	-	NC_000001.11:g.109306907G>A	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala30Ser	rs766116589	missense variant	-	NC_000001.11:g.109306904C>A	ExAC,TOPMed
MYBPHL	A2RUH7	p.Ala30Thr	rs766116589	missense variant	-	NC_000001.11:g.109306904C>T	ExAC,TOPMed
MYBPHL	A2RUH7	p.Pro32Ser	rs760447925	missense variant	-	NC_000001.11:g.109306898G>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Pro32Leu	rs773432260	missense variant	-	NC_000001.11:g.109306897G>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Gly33Glu	rs1007579987	missense variant	-	NC_000001.11:g.109306894C>T	TOPMed
MYBPHL	A2RUH7	p.Gln34Arg	rs1390977849	missense variant	-	NC_000001.11:g.109306891T>C	TOPMed
MYBPHL	A2RUH7	p.Gly37Asp	rs1195116001	missense variant	-	NC_000001.11:g.109306882C>T	gnomAD
MYBPHL	A2RUH7	p.Ser38Asn	rs774396298	missense variant	-	NC_000001.11:g.109306879C>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Pro39Thr	rs768734859	missense variant	-	NC_000001.11:g.109306877G>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro41Ala	rs770069680	missense variant	-	NC_000001.11:g.109306871G>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Pro41Arg	rs746221665	missense variant	-	NC_000001.11:g.109306870G>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Pro46Ser	rs146017045	missense variant	-	NC_000001.11:g.109306856G>A	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro46Ala	rs146017045	missense variant	-	NC_000001.11:g.109306856G>C	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Glu49Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109306847C>T	NCI-TCGA
MYBPHL	A2RUH7	p.His50Asn	rs778557706	missense variant	-	NC_000001.11:g.109298255G>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Lys52Glu	rs1363898224	missense variant	-	NC_000001.11:g.109298249T>C	gnomAD
MYBPHL	A2RUH7	p.Lys52ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.109298250G>-	NCI-TCGA
MYBPHL	A2RUH7	p.Trp54Ter	rs1259527733	stop gained	-	NC_000001.11:g.109298241C>T	gnomAD
MYBPHL	A2RUH7	p.Trp54Arg	rs200938847	missense variant	-	NC_000001.11:g.109298243A>G	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro56Ser	rs1211408113	missense variant	-	NC_000001.11:g.109298237G>A	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg57Trp	rs201587393	missense variant	-	NC_000001.11:g.109298234G>A	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg57Gln	rs373762668	missense variant	-	NC_000001.11:g.109298233C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala58Val	rs199935853	missense variant	-	NC_000001.11:g.109298230G>A	1000Genomes,ExAC,gnomAD
MYBPHL	A2RUH7	p.Ala58Pro	rs750314990	missense variant	-	NC_000001.11:g.109298231C>G	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala58Ser	rs750314990	missense variant	-	NC_000001.11:g.109298231C>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala58Gly	rs199935853	missense variant	-	NC_000001.11:g.109298230G>C	1000Genomes,ExAC,gnomAD
MYBPHL	A2RUH7	p.Arg60Lys	rs370683131	missense variant	-	NC_000001.11:g.109298224C>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg60Ser	rs376631272	missense variant	-	NC_000001.11:g.109298223C>A	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ile64Thr	rs145366916	missense variant	-	NC_000001.11:g.109298212A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg65Trp	rs146641385	missense variant	-	NC_000001.11:g.109298210G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg65Gln	rs765712022	missense variant	-	NC_000001.11:g.109298209C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Lys66Gln	rs760141545	missense variant	-	NC_000001.11:g.109298207T>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Val67Ala	rs761060012	missense variant	-	NC_000001.11:g.109298203A>G	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Val67Phe	rs201113761	missense variant	-	NC_000001.11:g.109298204C>A	1000Genomes,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly68Ala	rs773929882	missense variant	-	NC_000001.11:g.109298200C>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Asp69Asn	rs1411478013	missense variant	-	NC_000001.11:g.109298198C>T	TOPMed
MYBPHL	A2RUH7	p.Asp69Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109298198C>A	NCI-TCGA
MYBPHL	A2RUH7	p.Val71Gly	rs1027108408	missense variant	-	NC_000001.11:g.109298191A>C	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asn72Lys	rs748802579	missense variant	-	NC_000001.11:g.109298187G>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Leu73Arg	rs775091548	missense variant	-	NC_000001.11:g.109298185A>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Leu74Pro	rs1437063175	missense variant	-	NC_000001.11:g.109298182A>G	TOPMed
MYBPHL	A2RUH7	p.Ile75Leu	rs1211993521	missense variant	-	NC_000001.11:g.109298180T>G	gnomAD
MYBPHL	A2RUH7	p.Gln78Leu	rs769257346	missense variant	-	NC_000001.11:g.109298170T>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Pro81Thr	rs767729123	missense variant	-	NC_000001.11:g.109297611G>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Pro83Leu	COSM3862115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297604G>A	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Ile86Leu	rs774942604	missense variant	-	NC_000001.11:g.109297596T>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ile86Thr	rs1326047809	missense variant	-	NC_000001.11:g.109297595A>G	gnomAD
MYBPHL	A2RUH7	p.Ile86Val	rs774942604	missense variant	-	NC_000001.11:g.109297596T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Trp87Ter	rs1190498937	stop gained	-	NC_000001.11:g.109297591C>T	TOPMed
MYBPHL	A2RUH7	p.His89Tyr	rs1352200219	missense variant	-	NC_000001.11:g.109297587G>A	gnomAD
MYBPHL	A2RUH7	p.Asp90Glu	rs540252437	missense variant	-	NC_000001.11:g.109297582A>T	1000Genomes,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly91Ser	rs770825563	missense variant	-	NC_000001.11:g.109297581C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Leu94Phe	rs777645184	missense variant	-	NC_000001.11:g.109297570C>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Leu94Ser	rs746828107	missense variant	-	NC_000001.11:g.109297571A>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Thr96Ser	rs1253861188	missense variant	-	NC_000001.11:g.109297565G>C	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Thr96Ile	rs1253861188	missense variant	-	NC_000001.11:g.109297565G>A	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg97Met	rs1479707049	missense variant	-	NC_000001.11:g.109297562C>A	gnomAD
MYBPHL	A2RUH7	p.Arg97Gly	rs758086173	missense variant	-	NC_000001.11:g.109297563T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Arg98His	rs779216234	missense variant	-	NC_000001.11:g.109297559C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg98Cys	rs374366281	missense variant	-	NC_000001.11:g.109297560G>A	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Val99Met	rs755163694	missense variant	-	NC_000001.11:g.109297557C>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Val99Ala	rs1278704400	missense variant	-	NC_000001.11:g.109297556A>G	gnomAD
MYBPHL	A2RUH7	p.Val99Leu	rs755163694	missense variant	-	NC_000001.11:g.109297557C>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ser100Gly	rs753958230	missense variant	-	NC_000001.11:g.109297554T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ser100Cys	rs753958230	missense variant	-	NC_000001.11:g.109297554T>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Arg102Gln	rs76186504	missense variant	-	NC_000001.11:g.109297547C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg102Trp	rs951601275	missense variant	-	NC_000001.11:g.109297548G>A	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asn103Asp	rs369981170	missense variant	-	NC_000001.11:g.109297545T>C	ESP,ExAC,gnomAD
MYBPHL	A2RUH7	p.Asn103Ser	rs143276725	missense variant	-	NC_000001.11:g.109297544T>C	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Glu105Asp	rs762028487	missense variant	-	NC_000001.11:g.109297537C>G	ExAC,TOPMed
MYBPHL	A2RUH7	p.Glu105Lys	rs1442900581	missense variant	-	NC_000001.11:g.109297539C>T	gnomAD
MYBPHL	A2RUH7	p.Gln106Pro	rs183846230	missense variant	-	NC_000001.11:g.109297535T>G	1000Genomes,ExAC,gnomAD
MYBPHL	A2RUH7	p.Asp107Ala	rs764867024	missense variant	-	NC_000001.11:g.109297532T>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Asp107Tyr	rs139418658	missense variant	-	NC_000001.11:g.109297533C>A	1000Genomes
MYBPHL	A2RUH7	p.Asp107Val	rs764867024	missense variant	-	NC_000001.11:g.109297532T>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ser108Phe	rs1046623306	missense variant	-	NC_000001.11:g.109297529G>A	TOPMed
MYBPHL	A2RUH7	p.Leu110Val	rs776097295	missense variant	-	NC_000001.11:g.109297524G>C	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Leu110Phe	rs776097295	missense variant	-	NC_000001.11:g.109297524G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Phe111Leu	rs1220557674	missense variant	-	NC_000001.11:g.109297521A>G	TOPMed
MYBPHL	A2RUH7	p.Ile112Val	rs146491588	missense variant	-	NC_000001.11:g.109297518T>C	ESP,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg113Gly	rs191294010	missense variant	-	NC_000001.11:g.109297515G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg113Gln	rs964166476	missense variant	-	NC_000001.11:g.109297514C>T	TOPMed
MYBPHL	A2RUH7	p.Arg113Ter	rs191294010	stop gained	-	NC_000001.11:g.109297515G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala115Val	rs772954453	missense variant	-	NC_000001.11:g.109297508G>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ala115Pro	rs1410285152	missense variant	-	NC_000001.11:g.109297509C>G	gnomAD
MYBPHL	A2RUH7	p.Gln116Arg	rs771911866	missense variant	-	NC_000001.11:g.109297505T>C	ExAC
MYBPHL	A2RUH7	p.Arg117His	rs199684187	missense variant	-	NC_000001.11:g.109297502C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg117Cys	rs139190609	missense variant	-	NC_000001.11:g.109297503G>A	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala118Ser	rs142270824	missense variant	-	NC_000001.11:g.109297500C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asp119Asn	rs1411879521	missense variant	-	NC_000001.11:g.109297497C>T	TOPMed
MYBPHL	A2RUH7	p.Ser120Leu	rs1260460612	missense variant	-	NC_000001.11:g.109297493G>A	gnomAD
MYBPHL	A2RUH7	p.Gly121Ser	rs1165902463	missense variant	-	NC_000001.11:g.109297491C>T	TOPMed
MYBPHL	A2RUH7	p.Arg122His	rs143926262	missense variant	-	NC_000001.11:g.109297487C>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg122Cys	rs147555110	missense variant	-	NC_000001.11:g.109297488G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Tyr123Ter	rs374848112	stop gained	-	NC_000001.11:g.109297483G>T	ESP,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gln124Pro	COSM117266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297481T>G	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Arg126His	rs1001808480	missense variant	-	NC_000001.11:g.109297475C>T	gnomAD
MYBPHL	A2RUH7	p.Arg126Cys	rs112174652	missense variant	-	NC_000001.11:g.109297476G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Val127Met	rs536262185	missense variant	-	NC_000001.11:g.109297473C>T	1000Genomes,ExAC,gnomAD
MYBPHL	A2RUH7	p.Gly130Asp	rs764919865	missense variant	-	NC_000001.11:g.109297463C>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Glu133Gln	rs759208438	missense variant	-	NC_000001.11:g.109297455C>G	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala134Thr	rs80157306	missense variant	-	NC_000001.11:g.109297452C>T	gnomAD
MYBPHL	A2RUH7	p.Ala134Pro	rs80157306	missense variant	-	NC_000001.11:g.109297452C>G	gnomAD
MYBPHL	A2RUH7	p.Thr135Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109297449T>C	NCI-TCGA
MYBPHL	A2RUH7	p.Ala136Thr	rs201690316	missense variant	-	NC_000001.11:g.109297446C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ile138Thr	rs912607471	missense variant	-	NC_000001.11:g.109297439A>G	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ile140Thr	rs1336895134	missense variant	-	NC_000001.11:g.109297433A>G	TOPMed
MYBPHL	A2RUH7	p.Leu141Pro	rs760044136	missense variant	-	NC_000001.11:g.109297430A>G	ExAC
MYBPHL	A2RUH7	p.Ile143Val	rs773257330	missense variant	-	NC_000001.11:g.109297425T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ile143Phe	rs773257330	missense variant	-	NC_000001.11:g.109297425T>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ile143Asn	rs1484726879	missense variant	-	NC_000001.11:g.109297424A>T	gnomAD
MYBPHL	A2RUH7	p.Ile143Thr	rs1484726879	missense variant	-	NC_000001.11:g.109297424A>G	gnomAD
MYBPHL	A2RUH7	p.Pro146Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109297183G>A	NCI-TCGA
MYBPHL	A2RUH7	p.Gly147Asp	rs1169091574	missense variant	-	NC_000001.11:g.109297180C>T	gnomAD
MYBPHL	A2RUH7	p.Pro149Leu	COSM3470850	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297174G>A	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Gln150Glu	rs1451290409	missense variant	-	NC_000001.11:g.109297172G>C	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gln150Pro	rs776844669	missense variant	-	NC_000001.11:g.109297171T>G	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gln150Arg	rs776844669	missense variant	-	NC_000001.11:g.109297171T>C	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Val155Ala	rs747078263	missense variant	-	NC_000001.11:g.109297156A>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Asp156Glu	rs373917531	missense variant	-	NC_000001.11:g.109297152G>C	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asp156Tyr	COSM423396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297154C>A	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Val157Ile	rs140919452	missense variant	-	NC_000001.11:g.109297151C>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Trp158Ter	rs780889162	stop gained	-	NC_000001.11:g.109297146C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Trp158Arg	rs745524301	missense variant	-	NC_000001.11:g.109297148A>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Gly159Ser	RCV000190200	missense variant	Long QT syndrome (LQTS)	NC_000001.11:g.109297145C>T	ClinVar
MYBPHL	A2RUH7	p.Gly159Ser	rs796052188	missense variant	-	NC_000001.11:g.109297145C>T	-
MYBPHL	A2RUH7	p.Ala162Thr	rs746292270	missense variant	-	NC_000001.11:g.109297136C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Leu164Met	rs764945362	missense variant	-	NC_000001.11:g.109297130G>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Leu164Pro	rs759315868	missense variant	-	NC_000001.11:g.109297129A>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Glu165Ala	rs1461862561	missense variant	-	NC_000001.11:g.109297126T>G	TOPMed
MYBPHL	A2RUH7	p.Thr167Ile	rs1252427866	missense variant	-	NC_000001.11:g.109297120G>A	gnomAD
MYBPHL	A2RUH7	p.Pro168Arg	rs766582821	missense variant	-	NC_000001.11:g.109297117G>C	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro168Leu	rs766582821	missense variant	-	NC_000001.11:g.109297117G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro169Ser	rs1282144886	missense variant	-	NC_000001.11:g.109297115G>A	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro169Leu	rs1243134747	missense variant	-	NC_000001.11:g.109297114G>A	TOPMed
MYBPHL	A2RUH7	p.Asp171Glu	rs1344904966	missense variant	-	NC_000001.11:g.109297107A>T	gnomAD
MYBPHL	A2RUH7	p.Asp171His	COSM4823049	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297109C>G	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Thr172Met	rs772088680	missense variant	-	NC_000001.11:g.109297105G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asn174Ser	rs768962052	missense variant	-	NC_000001.11:g.109297099T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Thr175Ile	rs1351713001	missense variant	-	NC_000001.11:g.109297096G>A	gnomAD
MYBPHL	A2RUH7	p.Ala176Val	rs1204001525	missense variant	-	NC_000001.11:g.109297093G>A	TOPMed
MYBPHL	A2RUH7	p.Ala176Thr	rs749662824	missense variant	-	NC_000001.11:g.109297094C>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Leu177Val	rs1377688019	missense variant	-	NC_000001.11:g.109297091G>C	gnomAD
MYBPHL	A2RUH7	p.Leu177Arg	rs1448318685	missense variant	-	NC_000001.11:g.109297090A>C	TOPMed
MYBPHL	A2RUH7	p.Tyr180Phe	COSM6120117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297081T>A	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Thr181Met	rs200935635	missense variant	-	NC_000001.11:g.109297078G>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Thr181Arg	COSM3984062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109297078G>C	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Ala185Val	rs1256465331	missense variant	-	NC_000001.11:g.109297066G>A	TOPMed
MYBPHL	A2RUH7	p.Lys188Asn	rs1475504339	missense variant	-	NC_000001.11:g.109297056T>A	TOPMed
MYBPHL	A2RUH7	p.Gly190Arg	rs372747640	missense variant	-	NC_000001.11:g.109297052C>G	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly190Ala	rs1389914198	missense variant	-	NC_000001.11:g.109297051C>G	gnomAD
MYBPHL	A2RUH7	p.Gly190Arg	rs372747640	missense variant	-	NC_000001.11:g.109297052C>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Leu191Val	rs969138875	missense variant	-	NC_000001.11:g.109296942G>C	TOPMed
MYBPHL	A2RUH7	p.Trp192Ter	rs767725276	stop gained	-	NC_000001.11:g.109296938C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Trp192Arg	rs1182662210	missense variant	-	NC_000001.11:g.109296939A>G	TOPMed
MYBPHL	A2RUH7	p.Thr194Met	rs550975134	missense variant	-	NC_000001.11:g.109296932G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Glu197Val	rs951118317	missense variant	-	NC_000001.11:g.109296923T>A	TOPMed
MYBPHL	A2RUH7	p.His198Arg	rs1437020454	missense variant	-	NC_000001.11:g.109296920T>C	TOPMed
MYBPHL	A2RUH7	p.Tyr199Phe	rs776076034	missense variant	-	NC_000001.11:g.109296917T>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg201Pro	rs141518010	missense variant	-	NC_000001.11:g.109296911C>G	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg201His	rs141518010	missense variant	-	NC_000001.11:g.109296911C>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg201Cys	rs4384262	missense variant	-	NC_000001.11:g.109296912G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Thr202Ala	rs1351059109	missense variant	-	NC_000001.11:g.109296909T>C	gnomAD
MYBPHL	A2RUH7	p.Thr202Ile	rs1307108063	missense variant	-	NC_000001.11:g.109296908G>A	TOPMed
MYBPHL	A2RUH7	p.Ser203Arg	rs771100733	missense variant	-	NC_000001.11:g.109296904G>C	gnomAD
MYBPHL	A2RUH7	p.Ile205Phe	rs1409263434	missense variant	-	NC_000001.11:g.109296900T>A	gnomAD
MYBPHL	A2RUH7	p.Ile205Met	rs771724099	missense variant	-	NC_000001.11:g.109296898G>C	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Val206Ile	rs142778245	missense variant	-	NC_000001.11:g.109296897C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asp208Asn	rs1279215275	missense variant	-	NC_000001.11:g.109296891C>T	TOPMed
MYBPHL	A2RUH7	p.Leu209Ile	rs372110491	missense variant	-	NC_000001.11:g.109296888G>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ile211Val	rs1489506872	missense variant	-	NC_000001.11:g.109296882T>C	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly212Ser	rs140827712	missense variant	-	NC_000001.11:g.109296879C>T	1000Genomes,ESP,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly212Asp	rs891321603	missense variant	-	NC_000001.11:g.109296878C>T	TOPMed
MYBPHL	A2RUH7	p.Asn213Ser	rs1196368768	missense variant	-	NC_000001.11:g.109296875T>C	TOPMed
MYBPHL	A2RUH7	p.Tyr215His	rs779957053	missense variant	-	NC_000001.11:g.109296870A>G	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Tyr215Cys	rs200779628	missense variant	-	NC_000001.11:g.109296869T>C	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg218Cys	rs745636230	missense variant	-	NC_000001.11:g.109296861G>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Arg218His	rs151201446	missense variant	-	NC_000001.11:g.109296860C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Val219Ala	rs757522364	missense variant	-	NC_000001.11:g.109296857A>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Val219Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109296858C>T	NCI-TCGA
MYBPHL	A2RUH7	p.Phe220Ser	rs142259076	missense variant	-	NC_000001.11:g.109296854A>G	ESP,ExAC,gnomAD
MYBPHL	A2RUH7	p.Ala221Pro	rs1167099552	missense variant	-	NC_000001.11:g.109296852C>G	TOPMed
MYBPHL	A2RUH7	p.Glu222Lys	rs1293558044	missense variant	-	NC_000001.11:g.109296849C>T	gnomAD
MYBPHL	A2RUH7	p.Cys225Trp	rs757818854	missense variant	-	NC_000001.11:g.109296838G>C	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly226Val	rs372851526	missense variant	-	NC_000001.11:g.109296836C>A	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly226Glu	rs372851526	missense variant	-	NC_000001.11:g.109296836C>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly226Arg	rs368090769	missense variant	-	NC_000001.11:g.109296837C>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly226Arg	rs368090769	missense variant	-	NC_000001.11:g.109296837C>G	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Glu229Gln	rs1438145886	missense variant	-	NC_000001.11:g.109296828C>G	TOPMed
MYBPHL	A2RUH7	p.Thr230Ile	rs1044991568	missense variant	-	NC_000001.11:g.109296824G>A	TOPMed
MYBPHL	A2RUH7	p.Ala231Val	rs766599816	missense variant	-	NC_000001.11:g.109296821G>A	ExAC,gnomAD
MYBPHL	A2RUH7	p.Pro232Ser	rs1426022396	missense variant	-	NC_000001.11:g.109296819G>A	gnomAD
MYBPHL	A2RUH7	p.Ile233Asn	rs773805544	missense variant	-	NC_000001.11:g.109296815A>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Thr234Ala	rs947863275	missense variant	-	NC_000001.11:g.109296813T>C	TOPMed
MYBPHL	A2RUH7	p.Thr235Met	rs775449157	missense variant	-	NC_000001.11:g.109296809G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Thr235Ala	rs762448870	missense variant	-	NC_000001.11:g.109296810T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Thr235Arg	rs775449157	missense variant	-	NC_000001.11:g.109296809G>C	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Leu237Phe	rs745760901	missense variant	-	NC_000001.11:g.109296804G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala238Thr	rs374955860	missense variant	-	NC_000001.11:g.109296801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.His239Tyr	rs1172963695	missense variant	-	NC_000001.11:g.109296798G>A	TOPMed
MYBPHL	A2RUH7	p.Ile240Asn	rs747269299	missense variant	-	NC_000001.11:g.109296794A>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ile240Val	rs1367261256	missense variant	-	NC_000001.11:g.109296795T>C	TOPMed
MYBPHL	A2RUH7	p.Gln241Ter	rs777846742	stop gained	-	NC_000001.11:g.109296792G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gln241Arg	rs758616200	missense variant	-	NC_000001.11:g.109296791T>C	ExAC,TOPMed
MYBPHL	A2RUH7	p.Ala244Val	rs768911598	missense variant	-	NC_000001.11:g.109296370G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala244Asp	rs768911598	missense variant	-	NC_000001.11:g.109296370G>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala244Thr	rs752791583	missense variant	-	NC_000001.11:g.109296783C>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Tyr247Ser	rs1263627101	missense variant	-	NC_000001.11:g.109296361T>G	gnomAD
MYBPHL	A2RUH7	p.Lys248Arg	rs1246818654	missense variant	-	NC_000001.11:g.109296358T>C	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Thr249Ala	rs749321692	missense variant	-	NC_000001.11:g.109296356T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Lys250Arg	rs780662409	missense variant	-	NC_000001.11:g.109296352T>C	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Lys250Ter	rs896422019	stop gained	-	NC_000001.11:g.109296353T>A	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Lys250Glu	rs896422019	missense variant	-	NC_000001.11:g.109296353T>C	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly251Ala	rs756605087	missense variant	-	NC_000001.11:g.109296349C>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Arg255Gln	rs200868923	missense variant	-	NC_000001.11:g.109296337C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg255Ter	rs139849511	stop gained	-	NC_000001.11:g.109296338G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asp256His	COSM3360203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109296335C>G	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Phe257Tyr	rs1372915616	missense variant	-	NC_000001.11:g.109296331A>T	gnomAD
MYBPHL	A2RUH7	p.Phe257Leu	COSM893491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109296330G>T	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Ser258Pro	rs752406530	missense variant	-	NC_000001.11:g.109296329A>G	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala260Asp	rs754554091	missense variant	-	NC_000001.11:g.109296322G>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Ala260Thr	rs764867005	missense variant	-	NC_000001.11:g.109296323C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro261Gln	rs1467644994	missense variant	-	NC_000001.11:g.109296319G>T	gnomAD
MYBPHL	A2RUH7	p.Pro261Ala	rs753264112	missense variant	-	NC_000001.11:g.109296320G>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Lys262Gln	rs1473528387	missense variant	-	NC_000001.11:g.109296317T>G	gnomAD
MYBPHL	A2RUH7	p.Lys262Asn	rs1264608583	missense variant	-	NC_000001.11:g.109296315C>A	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Phe263Ser	rs1239722280	missense variant	-	NC_000001.11:g.109296313A>G	gnomAD
MYBPHL	A2RUH7	p.Phe263ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.109296318_109296319insG	NCI-TCGA
MYBPHL	A2RUH7	p.Thr264Ser	rs1038122707	missense variant	-	NC_000001.11:g.109296310G>C	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Thr264Pro	rs765863415	missense variant	-	NC_000001.11:g.109296311T>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Gln265Glu	rs941122942	missense variant	-	NC_000001.11:g.109296308G>C	TOPMed
MYBPHL	A2RUH7	p.Pro266His	rs142989328	missense variant	-	NC_000001.11:g.109296304G>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro266Ser	rs557627908	missense variant	-	NC_000001.11:g.109296305G>A	1000Genomes,ExAC,gnomAD
MYBPHL	A2RUH7	p.Leu267Val	rs1383120656	missense variant	-	NC_000001.11:g.109296302G>C	TOPMed
MYBPHL	A2RUH7	p.Ala268Asp	rs1400277125	missense variant	-	NC_000001.11:g.109296298G>T	TOPMed
MYBPHL	A2RUH7	p.Asp269Asn	rs629001	missense variant	-	NC_000001.11:g.109296296C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asp269His	rs629001	missense variant	-	NC_000001.11:g.109296296C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Thr271Ala	rs768980743	missense variant	-	NC_000001.11:g.109296290T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Thr271Ile	rs1293258597	missense variant	-	NC_000001.11:g.109296289G>A	TOPMed
MYBPHL	A2RUH7	p.Thr272Ala	rs749481449	missense variant	-	NC_000001.11:g.109296287T>C	ExAC,TOPMed
MYBPHL	A2RUH7	p.Val273Ala	rs201047006	missense variant	-	NC_000001.11:g.109296283A>G	1000Genomes,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Val273Asp	rs201047006	missense variant	-	NC_000001.11:g.109296283A>T	1000Genomes,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly275Ser	rs142341673	missense variant	-	NC_000001.11:g.109296278C>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Tyr276Cys	rs781656373	missense variant	-	NC_000001.11:g.109296274T>C	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Thr278Ala	rs1228957459	missense variant	-	NC_000001.11:g.109296269T>C	gnomAD
MYBPHL	A2RUH7	p.Thr278Ile	rs923047686	missense variant	-	NC_000001.11:g.109296268G>A	TOPMed
MYBPHL	A2RUH7	p.Cys283Tyr	rs747346116	missense variant	-	NC_000001.11:g.109296253C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg285Pro	rs143483325	missense variant	-	NC_000001.11:g.109296247C>G	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg285His	rs143483325	missense variant	-	NC_000001.11:g.109296247C>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg285Cys	rs369197135	missense variant	-	NC_000001.11:g.109296248G>A	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg285Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109296248G>C	NCI-TCGA
MYBPHL	A2RUH7	p.Ala286Ser	rs745345803	missense variant	-	NC_000001.11:g.109296245C>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala286Thr	rs745345803	missense variant	-	NC_000001.11:g.109296245C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro288Ser	rs1210494746	missense variant	-	NC_000001.11:g.109296239G>A	gnomAD
MYBPHL	A2RUH7	p.Arg289Trp	rs763912500	missense variant	-	NC_000001.11:g.109296236G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg289Gln	rs138548862	missense variant	-	NC_000001.11:g.109296235C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro290Ser	rs142219130	missense variant	-	NC_000001.11:g.109295297G>A	ESP
MYBPHL	A2RUH7	p.Ile293Thr	rs761170978	missense variant	-	NC_000001.11:g.109295287A>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Asn297Lys	rs147013243	missense variant	-	NC_000001.11:g.109295274G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Met299Ile	rs772378066	missense variant	-	NC_000001.11:g.109295268C>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Met299Val	rs1227042399	missense variant	-	NC_000001.11:g.109295270T>C	gnomAD
MYBPHL	A2RUH7	p.Gln302His	rs1342760665	missense variant	-	NC_000001.11:g.109295259T>G	gnomAD
MYBPHL	A2RUH7	p.Gln302Arg	rs1285128539	missense variant	-	NC_000001.11:g.109295260T>C	gnomAD
MYBPHL	A2RUH7	p.Gly303Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109295257C>T	NCI-TCGA
MYBPHL	A2RUH7	p.Pro305Arg	rs748540136	missense variant	-	NC_000001.11:g.109295251G>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Lys306Glu	rs1239164594	missense variant	-	NC_000001.11:g.109295249T>C	TOPMed
MYBPHL	A2RUH7	p.TyrArg307Ter	rs754146555	stop gained	-	NC_000001.11:g.109295244_109295245del	ExAC,gnomAD
MYBPHL	A2RUH7	p.Tyr307Cys	COSM1332441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109295245T>C	NCI-TCGA Cosmic
MYBPHL	A2RUH7	p.Ala309Val	rs1299811668	missense variant	-	NC_000001.11:g.109295239G>A	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Thr311Ser	rs998599876	missense variant	-	NC_000001.11:g.109295234T>A	TOPMed
MYBPHL	A2RUH7	p.His312Tyr	rs72703216	missense variant	-	NC_000001.11:g.109295231G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Glu319Asp	rs1388642575	missense variant	-	NC_000001.11:g.109295208C>A	gnomAD
MYBPHL	A2RUH7	p.Arg321His	rs745479245	missense variant	-	NC_000001.11:g.109295203C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg321Cys	rs187060263	missense variant	-	NC_000001.11:g.109295204G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro323Leu	rs777512404	missense variant	-	NC_000001.11:g.109295197G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly324Val	rs1388539034	missense variant	-	NC_000001.11:g.109295194C>A	gnomAD
MYBPHL	A2RUH7	p.Gly324Asp	rs1388539034	missense variant	-	NC_000001.11:g.109295194C>T	gnomAD
MYBPHL	A2RUH7	p.Phe326Ser	rs146381593	missense variant	-	NC_000001.11:g.109295188A>G	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asp327Asn	rs1429897416	missense variant	-	NC_000001.11:g.109295186C>T	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly329Val	rs1220064059	missense variant	-	NC_000001.11:g.109295179C>A	gnomAD
MYBPHL	A2RUH7	p.Ile330Asn	rs1291119403	missense variant	-	NC_000001.11:g.109295176A>T	gnomAD
MYBPHL	A2RUH7	p.Ile330Val	rs764890258	missense variant	-	NC_000001.11:g.109295177T>C	ExAC,gnomAD
MYBPHL	A2RUH7	p.Lys334Glu	rs1433245592	missense variant	-	NC_000001.11:g.109295165T>C	TOPMed
MYBPHL	A2RUH7	p.Lys334LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.109295165_109295166insGCAGGTATAGAAG	NCI-TCGA
MYBPHL	A2RUH7	p.Ala335Glu	rs139001634	missense variant	-	NC_000001.11:g.109295161G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala335Val	rs139001634	missense variant	-	NC_000001.11:g.109295161G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Asn337Lys	rs371838903	missense variant	-	NC_000001.11:g.109295154G>T	ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro338Ser	rs377658286	missense variant	-	NC_000001.11:g.109295153G>A	gnomAD
MYBPHL	A2RUH7	p.Pro338His	rs148219864	missense variant	-	NC_000001.11:g.109295152G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro338Leu	rs148219864	missense variant	-	NC_000001.11:g.109295152G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro338Arg	rs148219864	missense variant	-	NC_000001.11:g.109295152G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Leu339Gln	rs769077063	missense variant	-	NC_000001.11:g.109295149A>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Gly340Arg	rs776410764	missense variant	-	NC_000001.11:g.109295147C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Gly340Trp	rs776410764	missense variant	-	NC_000001.11:g.109295147C>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala342Thr	rs1351532259	missense variant	-	NC_000001.11:g.109295141C>T	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ala342Glu	rs1355640090	missense variant	-	NC_000001.11:g.109295140G>T	TOPMed
MYBPHL	A2RUH7	p.Ser343Pro	rs367696296	missense variant	-	NC_000001.11:g.109295138A>G	ESP,ExAC,gnomAD
MYBPHL	A2RUH7	p.Val344Ala	rs1231777768	missense variant	-	NC_000001.11:g.109295134A>G	TOPMed
MYBPHL	A2RUH7	p.Cys346Ser	rs1368403881	missense variant	-	NC_000001.11:g.109295128C>G	gnomAD
MYBPHL	A2RUH7	p.Arg347Gln	rs758385359	missense variant	-	NC_000001.11:g.109295125C>T	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg347Trp	rs777623862	missense variant	-	NC_000001.11:g.109295126G>A	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Arg347Pro	rs758385359	missense variant	-	NC_000001.11:g.109295125C>G	ExAC,TOPMed,gnomAD
MYBPHL	A2RUH7	p.Val348Met	rs747993127	missense variant	-	NC_000001.11:g.109295123C>T	ExAC,gnomAD
MYBPHL	A2RUH7	p.Val350Ala	rs778770245	missense variant	-	NC_000001.11:g.109295116A>G	ExAC,gnomAD
MYBPHL	A2RUH7	p.Lys351Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109295114T>G	NCI-TCGA
MYBPHL	A2RUH7	p.Val352Ile	rs986151299	missense variant	-	NC_000001.11:g.109295111C>T	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro353Ala	rs902692350	missense variant	-	NC_000001.11:g.109294247G>C	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Pro353Thr	rs902692350	missense variant	-	NC_000001.11:g.109294247G>T	TOPMed,gnomAD
MYBPHL	A2RUH7	p.Ter355Trp	rs1355166051	stop lost	-	NC_000001.11:g.109294239T>C	TOPMed
VWA8	A3KMH1	p.Leu5Phe	rs1168205575	missense variant	-	NC_000013.11:g.41961003G>A	TOPMed
VWA8	A3KMH1	p.Gly9Arg	rs773219232	missense variant	-	NC_000013.11:g.41960991C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala10Glu	rs1278130748	missense variant	-	NC_000013.11:g.41960987G>T	gnomAD
VWA8	A3KMH1	p.Ala10Val	rs1278130748	missense variant	-	NC_000013.11:g.41960987G>A	gnomAD
VWA8	A3KMH1	p.Pro11Leu	rs1359134649	missense variant	-	NC_000013.11:g.41960984G>A	TOPMed
VWA8	A3KMH1	p.Pro11Ser	rs1441946555	missense variant	-	NC_000013.11:g.41960985G>A	gnomAD
VWA8	A3KMH1	p.His14Asn	rs772144260	missense variant	-	NC_000013.11:g.41960976G>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly15Ser	rs543752211	missense variant	-	NC_000013.11:g.41960973C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly16Val	rs1174380161	missense variant	-	NC_000013.11:g.41960969C>A	gnomAD
VWA8	A3KMH1	p.Gly16Cys	rs1374902141	missense variant	-	NC_000013.11:g.41960970C>A	gnomAD
VWA8	A3KMH1	p.Pro17Arg	rs1436492547	missense variant	-	NC_000013.11:g.41960966G>C	gnomAD
VWA8	A3KMH1	p.Ala18Val	rs1045945724	missense variant	-	NC_000013.11:g.41960963G>A	TOPMed
VWA8	A3KMH1	p.Ser19Leu	rs1470407905	missense variant	-	NC_000013.11:g.41960960G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg21Pro	rs1485165103	missense variant	-	NC_000013.11:g.41960954C>G	gnomAD
VWA8	A3KMH1	p.Arg21Cys	rs769667547	missense variant	-	NC_000013.11:g.41960955G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Arg21Ser	rs769667547	missense variant	-	NC_000013.11:g.41960955G>T	ExAC,gnomAD
VWA8	A3KMH1	p.Met22Val	rs922002218	missense variant	-	NC_000013.11:g.41960952T>C	gnomAD
VWA8	A3KMH1	p.Arg23Gly	rs1039231861	missense variant	-	NC_000013.11:g.41960949G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg23Trp	rs1039231861	missense variant	-	NC_000013.11:g.41960949G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Leu24Pro	rs1282771485	missense variant	-	NC_000013.11:g.41960945A>G	gnomAD
VWA8	A3KMH1	p.Val29Gly	rs781161376	missense variant	-	NC_000013.11:g.41960930A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Val30Leu	rs756918775	missense variant	-	NC_000013.11:g.41960928C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln31His	rs978280840	missense variant	-	NC_000013.11:g.41960923C>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln31Pro	rs1413128428	missense variant	-	NC_000013.11:g.41960924T>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln31Arg	rs1413128428	missense variant	-	NC_000013.11:g.41960924T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln31His	rs978280840	missense variant	-	NC_000013.11:g.41960923C>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg32Leu	rs966353455	missense variant	-	NC_000013.11:g.41960921C>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro34Leu	rs985303286	missense variant	-	NC_000013.11:g.41960915G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Gly35Ser	rs1317585372	missense variant	-	NC_000013.11:g.41960913C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Gly35Arg	rs1317585372	missense variant	-	NC_000013.11:g.41960913C>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln39His	rs1409853545	missense variant	-	NC_000013.11:g.41960899C>G	gnomAD
VWA8	A3KMH1	p.Arg40Gln	rs1161317625	missense variant	-	NC_000013.11:g.41960897C>T	gnomAD
VWA8	A3KMH1	p.Pro41Leu	rs1474670141	missense variant	-	NC_000013.11:g.41960894G>A	gnomAD
VWA8	A3KMH1	p.Glu42Ala	rs1346244882	missense variant	-	NC_000013.11:g.41960891T>G	TOPMed
VWA8	A3KMH1	p.Val43Ile	rs953981412	missense variant	-	NC_000013.11:g.41960889C>T	TOPMed
VWA8	A3KMH1	p.His47Gln	rs1448119347	missense variant	-	NC_000013.11:g.41960875G>T	gnomAD
VWA8	A3KMH1	p.Ala48Val	rs746669100	missense variant	-	NC_000013.11:g.41960873G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly49Asp	rs934511516	missense variant	-	NC_000013.11:g.41960870C>T	TOPMed
VWA8	A3KMH1	p.Gly49Val	rs934511516	missense variant	-	NC_000013.11:g.41960870C>A	TOPMed
VWA8	A3KMH1	p.Ser50Thr	rs976581962	missense variant	-	NC_000013.11:g.41960868A>T	TOPMed
VWA8	A3KMH1	p.Ala52Pro	rs1334359339	missense variant	-	NC_000013.11:g.41960862C>G	gnomAD
VWA8	A3KMH1	p.Gly55Asp	rs1327715342	missense variant	-	NC_000013.11:g.41950013C>T	gnomAD
VWA8	A3KMH1	p.Asp56Glu	rs1005788518	missense variant	-	NC_000013.11:g.41950009A>T	TOPMed
VWA8	A3KMH1	p.Asp56Val	rs774332795	missense variant	-	NC_000013.11:g.41950010T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Thr57Ile	rs148607339	missense variant	-	NC_000013.11:g.41950007G>A	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Thr57Ile	rs148607339	missense variant	-	NC_000013.11:g.41950007G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn59Asp	rs1411187566	missense variant	-	NC_000013.11:g.41950002T>C	gnomAD
VWA8	A3KMH1	p.Asn59Thr	COSM947507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41950001T>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile60Thr	rs745812712	missense variant	-	NC_000013.11:g.41949998A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp62Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41949993C>A	NCI-TCGA
VWA8	A3KMH1	p.Asp62Asn	rs776506564	missense variant	-	NC_000013.11:g.41949993C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ser64Cys	rs61752293	missense variant	-	NC_000013.11:g.41949986G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser64Thr	rs1454256920	missense variant	-	NC_000013.11:g.41949987A>T	gnomAD
VWA8	A3KMH1	p.Tyr65Cys	rs777549499	missense variant	-	NC_000013.11:g.41949983T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr65Phe	rs777549499	missense variant	-	NC_000013.11:g.41949983T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Lys68Ile	rs368541436	missense variant	-	NC_000013.11:g.41949974T>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile69Asn	COSM947506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41949971A>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Pro70Ser	COSM3468948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41949969G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys71Arg	rs747657117	missense variant	-	NC_000013.11:g.41949965T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Lys71Ter	rs1205255151	stop gained	-	NC_000013.11:g.41949966T>A	gnomAD
VWA8	A3KMH1	p.Asn72Lys	rs1248962473	missense variant	-	NC_000013.11:g.41949961A>T	TOPMed
VWA8	A3KMH1	p.Pro73Ser	rs778309847	missense variant	-	NC_000013.11:g.41949960G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Pro77Leu	rs1348586650	missense variant	-	NC_000013.11:g.41949947G>A	gnomAD
VWA8	A3KMH1	p.Gln78Ter	rs1305339581	stop gained	-	NC_000013.11:g.41949945G>A	NCI-TCGA
VWA8	A3KMH1	p.Gln78Ter	rs1305339581	stop gained	-	NC_000013.11:g.41949945G>A	gnomAD
VWA8	A3KMH1	p.Tyr80Ter	rs780605762	stop gained	-	NC_000013.11:g.41949937G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asp83Ala	rs1376548842	missense variant	-	NC_000013.11:g.41912162T>G	gnomAD
VWA8	A3KMH1	p.Ser84Phe	rs1305132611	missense variant	-	NC_000013.11:g.41912159G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln87Leu	rs771709787	missense variant	-	NC_000013.11:g.41912150T>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln87Ter	rs537055915	stop gained	-	NC_000013.11:g.41912151G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln87Arg	rs771709787	missense variant	-	NC_000013.11:g.41912150T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser88Phe	rs369325555	missense variant	-	NC_000013.11:g.41912147G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser88Tyr	rs369325555	missense variant	-	NC_000013.11:g.41912147G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val89Gly	rs778420533	missense variant	-	NC_000013.11:g.41912144A>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.His92Pro	rs1326512134	missense variant	-	NC_000013.11:g.41912135T>G	TOPMed
VWA8	A3KMH1	p.Trp95Arg	rs768048457	missense variant	-	NC_000013.11:g.41912127A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Met97Ile	rs1486053748	missense variant	-	NC_000013.11:g.41912119C>T	gnomAD
VWA8	A3KMH1	p.Met97Leu	COSM3813836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41912121T>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gln98Arg	rs748853303	missense variant	-	NC_000013.11:g.41912117T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Lys99Met	rs1203279926	missense variant	-	NC_000013.11:g.41912114T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Lys99Arg	rs1203279926	missense variant	-	NC_000013.11:g.41912114T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp100Gly	rs780515564	missense variant	-	NC_000013.11:g.41912111T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Leu101Phe	rs895292913	missense variant	-	NC_000013.11:g.41912109G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Leu101Ile	rs895292913	missense variant	-	NC_000013.11:g.41912109G>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Leu101Val	rs895292913	missense variant	-	NC_000013.11:g.41912109G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Leu102Ser	rs1332129753	missense variant	-	NC_000013.11:g.41912105A>G	gnomAD
VWA8	A3KMH1	p.Gly103Trp	rs750745493	missense variant	-	NC_000013.11:g.41912103C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asp105Asn	rs781429320	missense variant	-	NC_000013.11:g.41912097C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Leu108Val	rs1292869248	missense variant	-	NC_000013.11:g.41912088G>C	gnomAD
VWA8	A3KMH1	p.Ile109Thr	rs1486758401	missense variant	-	NC_000013.11:g.41912084A>G	gnomAD
VWA8	A3KMH1	p.Pro111Ser	rs200540728	missense variant	-	NC_000013.11:g.41912079G>A	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Pro111Leu	rs751732674	missense variant	-	NC_000013.11:g.41912078G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro111Ser	rs200540728	missense variant	-	NC_000013.11:g.41912079G>A	NCI-TCGA
VWA8	A3KMH1	p.Pro112Ser	rs764440777	missense variant	-	NC_000013.11:g.41912076G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Pro112His	rs763105616	missense variant	-	NC_000013.11:g.41912075G>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly113Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41912072C>A	NCI-TCGA
VWA8	A3KMH1	p.Gly113Glu	rs376871431	missense variant	-	NC_000013.11:g.41912072C>T	ESP
VWA8	A3KMH1	p.Pro114Leu	rs1392495387	missense variant	-	NC_000013.11:g.41912069G>A	gnomAD
VWA8	A3KMH1	p.Arg116Gln	rs766383093	missense variant	-	NC_000013.11:g.41912063C>T	NCI-TCGA
VWA8	A3KMH1	p.Arg116Ter	rs759144797	stop gained	-	NC_000013.11:g.41912064G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg116Gln	rs766383093	missense variant	-	NC_000013.11:g.41912063C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg117His	rs1323552190	missense variant	-	NC_000013.11:g.41912060C>T	gnomAD
VWA8	A3KMH1	p.Arg117Cys	rs373082900	missense variant	-	NC_000013.11:g.41912061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile119Leu	rs773084817	missense variant	-	NC_000013.11:g.41912055T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Met121Ile	rs761737335	missense variant	-	NC_000013.11:g.41912047C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr123Ser	rs768401732	missense variant	-	NC_000013.11:g.41912042T>G	ExAC
VWA8	A3KMH1	p.Leu124Trp	rs775011400	missense variant	-	NC_000013.11:g.41912039A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Leu124Val	rs748763283	missense variant	-	NC_000013.11:g.41912040A>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu125Lys	rs1442109682	missense variant	-	NC_000013.11:g.41907696C>T	gnomAD
VWA8	A3KMH1	p.Thr127Ile	rs1333015479	missense variant	-	NC_000013.11:g.41907689G>A	gnomAD
VWA8	A3KMH1	p.Lys128Arg	rs771511624	missense variant	-	NC_000013.11:g.41907686T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg129Trp	rs142543350	missense variant	-	NC_000013.11:g.41907684G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg129Gln	rs148430411	missense variant	-	NC_000013.11:g.41907683C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu130Asp	rs546019716	missense variant	-	NC_000013.11:g.41907679C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ala135Asp	rs755097912	missense variant	-	NC_000013.11:g.41907665G>T	ExAC,gnomAD
VWA8	A3KMH1	p.Leu136Pro	rs754000432	missense variant	-	NC_000013.11:g.41907662A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Arg138Gly	rs1437807190	missense variant	-	NC_000013.11:g.41907657T>C	TOPMed
VWA8	A3KMH1	p.Arg138Lys	rs1184893487	missense variant	-	NC_000013.11:g.41907656C>T	TOPMed
VWA8	A3KMH1	p.Thr140Asn	rs751263968	missense variant	-	NC_000013.11:g.41907650G>T	ExAC,gnomAD
VWA8	A3KMH1	p.Thr140Ala	rs757247947	missense variant	-	NC_000013.11:g.41907651T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Thr140Ser	rs757247947	missense variant	-	NC_000013.11:g.41907651T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Thr141Ala	rs763889371	missense variant	-	NC_000013.11:g.41907648T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr141Ser	rs762522444	missense variant	-	NC_000013.11:g.41907647G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu142Gly	rs775115533	missense variant	-	NC_000013.11:g.41907644T>C	ExAC
VWA8	A3KMH1	p.Thr143Ile	rs764924375	missense variant	-	NC_000013.11:g.41907641G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asp144Val	rs1278182059	missense variant	-	NC_000013.11:g.41907638T>A	gnomAD
VWA8	A3KMH1	p.Lys146Ile	rs1238591814	missense variant	-	NC_000013.11:g.41907632T>A	gnomAD
VWA8	A3KMH1	p.Gln147His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41907628C>A	NCI-TCGA
VWA8	A3KMH1	p.Arg148Gln	rs372023506	missense variant	-	NC_000013.11:g.41907626C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg148Ter	rs776238856	stop gained	-	NC_000013.11:g.41907627G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg149Gln	rs1445290064	missense variant	-	NC_000013.11:g.41907623C>T	TOPMed
VWA8	A3KMH1	p.Arg149Ter	rs1010094785	stop gained	-	NC_000013.11:g.41907624G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Glu150Asp	rs773386212	missense variant	-	NC_000013.11:g.41907619C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Glu150Gln	rs367893800	missense variant	-	NC_000013.11:g.41907621C>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile151Phe	rs1448449785	missense variant	-	NC_000013.11:g.41907618T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Ile151Asn	rs1227909630	missense variant	-	NC_000013.11:g.41907617A>T	TOPMed
VWA8	A3KMH1	p.Arg152Cys	rs201977742	missense variant	-	NC_000013.11:g.41907615G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg152His	rs200022468	missense variant	-	NC_000013.11:g.41907614C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg152Leu	rs200022468	missense variant	-	NC_000013.11:g.41907614C>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr155Ile	rs1470276403	missense variant	-	NC_000013.11:g.41907605G>A	gnomAD
VWA8	A3KMH1	p.Ala156Thr	rs780204607	missense variant	-	NC_000013.11:g.41907603C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ile159Thr	rs113016627	missense variant	-	NC_000013.11:g.41907593A>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile159Val	rs1257256315	missense variant	-	NC_000013.11:g.41907594T>C	TOPMed
VWA8	A3KMH1	p.Gln161His	rs925353374	missense variant	-	NC_000013.11:g.41907586C>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Ala163Val	rs1359734589	missense variant	-	NC_000013.11:g.41891583G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg165Cys	rs1034651553	missense variant	-	NC_000013.11:g.41891578G>A	NCI-TCGA
VWA8	A3KMH1	p.Arg165His	rs9562362	missense variant	-	NC_000013.11:g.41891577C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg165Cys	rs1034651553	missense variant	-	NC_000013.11:g.41891578G>A	gnomAD
VWA8	A3KMH1	p.Ala166Val	rs1423568572	missense variant	-	NC_000013.11:g.41891574G>A	TOPMed
VWA8	A3KMH1	p.Thr172Ser	rs542089572	missense variant	-	NC_000013.11:g.41891556G>C	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Glu176Asp	rs200930321	missense variant	-	NC_000013.11:g.41891543T>A	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Glu179Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41891536C>G	NCI-TCGA
VWA8	A3KMH1	p.Glu182Ter	rs778695726	stop gained	-	NC_000013.11:g.41891527C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Arg183Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41891523C>T	NCI-TCGA
VWA8	A3KMH1	p.Asn184Ser	rs754524183	missense variant	-	NC_000013.11:g.41891520T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asn184Ser	rs754524183	missense variant	-	NC_000013.11:g.41891520T>C	NCI-TCGA
VWA8	A3KMH1	p.Val185Gly	rs753528349	missense variant	-	NC_000013.11:g.41891517A>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu189Trp	rs1277438059	missense variant	-	NC_000013.11:g.41891505A>C	TOPMed
VWA8	A3KMH1	p.Asn190Ser	rs556482884	missense variant	-	NC_000013.11:g.41891502T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn191Ser	rs760210746	missense variant	-	NC_000013.11:g.41891499T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Leu192Trp	rs749994738	missense variant	-	NC_000013.11:g.41891496A>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu193Pro	rs1250275250	missense variant	-	NC_000013.11:g.41891493A>G	gnomAD
VWA8	A3KMH1	p.Glu194Gln	rs768100252	missense variant	-	NC_000013.11:g.41891491C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn195Lys	rs762429668	missense variant	-	NC_000013.11:g.41891486G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg196Lys	COSM3468947	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41891484C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Glu197AspPheSerTerUnk	rs748468790	frameshift	-	NC_000013.11:g.41891479_41891480TC>-	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Met198Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41891477C>T	NCI-TCGA
VWA8	A3KMH1	p.Met198Val	rs1247545639	missense variant	-	NC_000013.11:g.41891479T>C	gnomAD
VWA8	A3KMH1	p.Gln199Leu	rs962635695	missense variant	-	NC_000013.11:g.41891475T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln199His	rs764524395	missense variant	-	NC_000013.11:g.41891474C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln199His	rs764524395	missense variant	-	NC_000013.11:g.41891474C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp202Asn	rs763289656	missense variant	-	NC_000013.11:g.41891467C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg204Cys	rs200803682	missense variant	-	NC_000013.11:g.41891461G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg204Ser	rs200803682	missense variant	-	NC_000013.11:g.41891461G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg204His	rs745914537	missense variant	-	NC_000013.11:g.41891460C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg204Cys	rs200803682	missense variant	-	NC_000013.11:g.41891461G>A	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Met207Thr	rs1367815833	missense variant	-	NC_000013.11:g.41891451A>G	gnomAD
VWA8	A3KMH1	p.Ser208Cys	rs1040344413	missense variant	-	NC_000013.11:g.41891448G>C	gnomAD
VWA8	A3KMH1	p.Ser208Phe	rs1040344413	missense variant	-	NC_000013.11:g.41891448G>A	gnomAD
VWA8	A3KMH1	p.Ala209Gly	rs776717761	missense variant	-	NC_000013.11:g.41891445G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ala209Thr	rs1353380944	missense variant	-	NC_000013.11:g.41891446C>T	gnomAD
VWA8	A3KMH1	p.Arg211Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41891439C>A	NCI-TCGA
VWA8	A3KMH1	p.Arg211Cys	rs143338038	missense variant	-	NC_000013.11:g.41891440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg211Ser	rs143338038	missense variant	-	NC_000013.11:g.41891440G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg211His	rs376966830	missense variant	-	NC_000013.11:g.41891439C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr212Ter	COSM289084	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41891435G>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asp213Asn	rs553937949	missense variant	-	NC_000013.11:g.41891434C>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Leu215Phe	rs749902607	missense variant	-	NC_000013.11:g.41891428G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu216Val	rs767147626	missense variant	-	NC_000013.11:g.41891425G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg217Pro	rs754590759	missense variant	-	NC_000013.11:g.41891421C>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg217Ter	rs1483955383	stop gained	-	NC_000013.11:g.41891422G>A	gnomAD
VWA8	A3KMH1	p.Arg217Gln	rs754590759	missense variant	-	NC_000013.11:g.41891421C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg217Leu	rs754590759	missense variant	-	NC_000013.11:g.41891421C>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg217Gln	rs754590759	missense variant	-	NC_000013.11:g.41891421C>T	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys221Arg	rs377468550	missense variant	-	NC_000013.11:g.41887351T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu223Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41887346C>A	NCI-TCGA
VWA8	A3KMH1	p.Glu223Val	rs758858374	missense variant	-	NC_000013.11:g.41887345T>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu223Gly	rs758858374	missense variant	-	NC_000013.11:g.41887345T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu223Asp	rs753050136	missense variant	-	NC_000013.11:g.41887344C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu223SerPheSerTerUnkUnk	COSM1366925	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41887347T>-	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asp225Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41887339T>C	NCI-TCGA
VWA8	A3KMH1	p.Asp225Val	rs1019106943	missense variant	-	NC_000013.11:g.41887339T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp225Ala	rs1019106943	missense variant	-	NC_000013.11:g.41887339T>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Ser226Cys	COSM3813835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41887336G>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile229Val	rs765527614	missense variant	-	NC_000013.11:g.41887328T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg231Ter	rs759964690	stop gained	-	NC_000013.11:g.41887322G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg231Gln	rs139208404	missense variant	-	NC_000013.11:g.41887321C>T	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Val232Ile	rs766637826	missense variant	-	NC_000013.11:g.41887319C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val232Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41887318A>G	NCI-TCGA
VWA8	A3KMH1	p.Phe236Val	rs760715102	missense variant	-	NC_000013.11:g.41887307A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg237Ter	rs370333106	stop gained	-	NC_000013.11:g.41887304G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg237Gln	rs150669026	missense variant	-	NC_000013.11:g.41887303C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile239Thr	COSM469440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41887297A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Leu241SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.41887282_41887292GGCAAGCCCAA>-	NCI-TCGA
VWA8	A3KMH1	p.Val245Leu	rs201868054	missense variant	-	NC_000013.11:g.41887280C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val245Met	rs201868054	missense variant	-	NC_000013.11:g.41887280C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro246Ser	rs1268573975	missense variant	-	NC_000013.11:g.41887277G>A	gnomAD
VWA8	A3KMH1	p.Arg247Ser	rs1332303699	missense variant	-	NC_000013.11:g.41887272C>A	gnomAD
VWA8	A3KMH1	p.Arg247Gly	rs769707026	missense variant	-	NC_000013.11:g.41887274T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr248Phe	rs745715626	missense variant	-	NC_000013.11:g.41887270T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr248Ter	rs752841506	stop gained	-	NC_000013.11:g.41887269A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr248His	COSM947502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41887271A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asn251Thr	rs1164373092	missense variant	-	NC_000013.11:g.41887261T>G	TOPMed
VWA8	A3KMH1	p.Pro252Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41887259G>A	NCI-TCGA
VWA8	A3KMH1	p.Asp254Glu	rs770743555	missense variant	-	NC_000013.11:g.41887251G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro255His	rs1364878402	missense variant	-	NC_000013.11:g.41887249G>T	gnomAD
VWA8	A3KMH1	p.Pro255Ser	rs777168545	missense variant	-	NC_000013.11:g.41887250G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Pro255Ala	rs777168545	missense variant	-	NC_000013.11:g.41887250G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro256Ser	rs1321721303	missense variant	-	NC_000013.11:g.41887247G>A	gnomAD
VWA8	A3KMH1	p.Pro256Ala	rs1321721303	missense variant	-	NC_000013.11:g.41887247G>C	gnomAD
VWA8	A3KMH1	p.Pro256Arg	rs895721371	missense variant	-	NC_000013.11:g.41887246G>C	TOPMed
VWA8	A3KMH1	p.Arg258Leu	rs372610625	missense variant	-	NC_000013.11:g.41887240C>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg258Cys	rs141866968	missense variant	-	NC_000013.11:g.41887241G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg258His	rs372610625	missense variant	-	NC_000013.11:g.41887240C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg260Gln	rs779458084	missense variant	-	NC_000013.11:g.41887234C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Arg260Ter	rs1395047116	stop gained	-	NC_000013.11:g.41887235G>A	TOPMed
VWA8	A3KMH1	p.Arg260Leu	rs779458084	missense variant	-	NC_000013.11:g.41887234C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Arg260Gln	rs779458084	missense variant	-	NC_000013.11:g.41887234C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gln262Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41887229G>A	NCI-TCGA
VWA8	A3KMH1	p.Gln262Pro	rs148125450	missense variant	-	NC_000013.11:g.41887228T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala263Thr	rs575177030	missense variant	-	NC_000013.11:g.41887226C>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Asp265Asn	rs766548324	missense variant	-	NC_000013.11:g.41887220C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Asp265Tyr	rs766548324	missense variant	-	NC_000013.11:g.41887220C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr267Cys	rs1231144495	missense variant	-	NC_000013.11:g.41887213T>C	TOPMed
VWA8	A3KMH1	p.Pro270Leu	rs750461469	missense variant	-	NC_000013.11:g.41887204G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Gln274His	rs755511434	missense variant	-	NC_000013.11:g.41886825T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Gln274Lys	rs1294433691	missense variant	-	NC_000013.11:g.41886827G>T	gnomAD
VWA8	A3KMH1	p.Leu275Pro	rs754155073	missense variant	-	NC_000013.11:g.41886823A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Lys276Gln	rs1356227236	missense variant	-	NC_000013.11:g.41886821T>G	gnomAD
VWA8	A3KMH1	p.Lys276Arg	rs1189420583	missense variant	-	NC_000013.11:g.41886820T>C	TOPMed
VWA8	A3KMH1	p.Leu277Ter	rs756291611	stop gained	-	NC_000013.11:g.41886817A>T	ExAC,gnomAD
VWA8	A3KMH1	p.Leu277Phe	rs138269345	missense variant	-	NC_000013.11:g.41886816C>A	1000Genomes,ESP,ExAC,TOPMed
VWA8	A3KMH1	p.Tyr279His	rs767837226	missense variant	-	NC_000013.11:g.41886812A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile281Val	rs757262503	missense variant	-	NC_000013.11:g.41886806T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile281Thr	rs751725027	missense variant	-	NC_000013.11:g.41886805A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly282Glu	rs375902474	missense variant	-	NC_000013.11:g.41886802C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn284Ile	rs41288299	missense variant	-	NC_000013.11:g.41886796T>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn284Ser	rs41288299	missense variant	-	NC_000013.11:g.41886796T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala287Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41886787G>A	NCI-TCGA
VWA8	A3KMH1	p.Lys289Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41886782T>C	NCI-TCGA
VWA8	A3KMH1	p.Val290Phe	rs1402556698	missense variant	-	NC_000013.11:g.41886027C>A	TOPMed
VWA8	A3KMH1	p.Gln292Leu	rs1157916110	missense variant	-	NC_000013.11:g.41886020T>A	gnomAD
VWA8	A3KMH1	p.Thr298Ile	rs1410601044	missense variant	-	NC_000013.11:g.41886002G>A	gnomAD
VWA8	A3KMH1	p.Thr299Ile	rs773786136	missense variant	-	NC_000013.11:g.41885999G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Thr299Ala	rs143649570	missense variant	-	NC_000013.11:g.41886000T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln303Arg	rs768148813	missense variant	-	NC_000013.11:g.41885987T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Glu304Ter	COSM947501	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41885985C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ser305Thr	rs748851334	missense variant	-	NC_000013.11:g.41885982A>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser306Phe	COSM3468945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41885978G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Thr307Pro	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41885976T>G	NCI-TCGA
VWA8	A3KMH1	p.Gly309Arg	rs770368970	missense variant	-	NC_000013.11:g.41885970C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Pro311Leu	rs189844979	missense variant	-	NC_000013.11:g.41885963G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro314Leu	rs1284685156	missense variant	-	NC_000013.11:g.41885954G>A	gnomAD
VWA8	A3KMH1	p.Pro314Ser	rs1355505112	missense variant	-	NC_000013.11:g.41885955G>A	gnomAD
VWA8	A3KMH1	p.Asp316Gly	rs549867896	missense variant	-	NC_000013.11:g.41885948T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser317Gly	rs1483729432	missense variant	-	NC_000013.11:g.41885946T>C	TOPMed
VWA8	A3KMH1	p.Ala320Val	rs1435288943	missense variant	-	NC_000013.11:g.41885936G>A	NCI-TCGA
VWA8	A3KMH1	p.Ala320Ser	rs1240997051	missense variant	-	NC_000013.11:g.41885937C>A	TOPMed
VWA8	A3KMH1	p.Ala320Val	rs1435288943	missense variant	-	NC_000013.11:g.41885936G>A	gnomAD
VWA8	A3KMH1	p.Ala321Val	rs758531436	missense variant	-	NC_000013.11:g.41885933G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala321Gly	rs758531436	missense variant	-	NC_000013.11:g.41885933G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val322Ile	rs1413957448	missense variant	-	NC_000013.11:g.41885931C>T	gnomAD
VWA8	A3KMH1	p.Gln323His	COSM4047656	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41885926T>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile324Val	rs779815752	missense variant	-	NC_000013.11:g.41885925T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe328Leu	rs755940440	missense variant	-	NC_000013.11:g.41883485A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Phe328Ser	rs1159810332	missense variant	-	NC_000013.11:g.41883484A>G	TOPMed
VWA8	A3KMH1	p.Met330Val	rs144851098	missense variant	-	NC_000013.11:g.41883479T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met331Val	rs1165695453	missense variant	-	NC_000013.11:g.41883476T>C	TOPMed
VWA8	A3KMH1	p.Pro332Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41883472G>A	NCI-TCGA
VWA8	A3KMH1	p.Pro332Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41883472G>T	NCI-TCGA
VWA8	A3KMH1	p.Pro332Ser	rs1247303934	missense variant	-	NC_000013.11:g.41883473G>A	gnomAD
VWA8	A3KMH1	p.Ile333Asn	rs1436039001	missense variant	-	NC_000013.11:g.41883469A>T	TOPMed
VWA8	A3KMH1	p.Ile333Val	rs201505982	missense variant	-	NC_000013.11:g.41883470T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.His335Tyr	rs1375295992	missense variant	-	NC_000013.11:g.41883464G>A	TOPMed
VWA8	A3KMH1	p.Ala336Ser	rs751391914	missense variant	-	NC_000013.11:g.41883461C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ala336Val	rs763692921	missense variant	-	NC_000013.11:g.41883460G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ile337Val	rs141126893	missense variant	-	NC_000013.11:g.41883458T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln338His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41883453C>G	NCI-TCGA
VWA8	A3KMH1	p.Tyr341His	rs1218266868	missense variant	-	NC_000013.11:g.41883446A>G	gnomAD
VWA8	A3KMH1	p.Pro342Thr	rs1367887582	missense variant	-	NC_000013.11:g.41883443G>T	gnomAD
VWA8	A3KMH1	p.Tyr343His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41883440A>G	NCI-TCGA
VWA8	A3KMH1	p.Tyr343Cys	rs759033768	missense variant	-	NC_000013.11:g.41883439T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ser344Ile	rs771607918	missense variant	-	NC_000013.11:g.41883436C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile345Met	rs1289987474	missense variant	-	NC_000013.11:g.41883432A>C	TOPMed
VWA8	A3KMH1	p.His349Arg	rs773735210	missense variant	-	NC_000013.11:g.41883421T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Glu350Gln	rs1345638924	missense variant	-	NC_000013.11:g.41883419C>G	gnomAD
VWA8	A3KMH1	p.Glu350Asp	rs199583559	missense variant	-	NC_000013.11:g.41883417T>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val355Met	rs779074342	missense variant	-	NC_000013.11:g.41883404C>T	ExAC
VWA8	A3KMH1	p.Gly357Asp	rs1192940446	missense variant	-	NC_000013.11:g.41883397C>T	gnomAD
VWA8	A3KMH1	p.Val358Ile	rs144977057	missense variant	-	NC_000013.11:g.41883395C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu359Ter	COSM1366923	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41883391A>-	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys360Met	rs1238168925	missense variant	-	NC_000013.11:g.41883388T>A	TOPMed
VWA8	A3KMH1	p.Arg361Leu	rs150362686	missense variant	-	NC_000013.11:g.41868476C>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg361His	rs150362686	missense variant	-	NC_000013.11:g.41868476C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg361Cys	rs61752290	missense variant	-	NC_000013.11:g.41868477G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu363Gly	rs1395995926	missense variant	-	NC_000013.11:g.41868470T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln365Pro	rs1380340862	missense variant	-	NC_000013.11:g.41868464T>G	gnomAD
VWA8	A3KMH1	p.Asp366Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41868462C>T	NCI-TCGA
VWA8	A3KMH1	p.Asp366Tyr	rs773647628	missense variant	-	NC_000013.11:g.41868462C>A	ExAC
VWA8	A3KMH1	p.Ser369Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41868452C>A	NCI-TCGA
VWA8	A3KMH1	p.Ser369Thr	rs140188669	missense variant	-	NC_000013.11:g.41868452C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser370Ala	rs1433099976	missense variant	-	NC_000013.11:g.41868450A>C	gnomAD
VWA8	A3KMH1	p.Ser370Phe	rs1029627703	missense variant	-	NC_000013.11:g.41868449G>A	gnomAD
VWA8	A3KMH1	p.Leu371Val	rs1159953549	missense variant	-	NC_000013.11:g.41868447G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Leu372Val	rs774607218	missense variant	-	NC_000013.11:g.41868444G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu372Ile	rs774607218	missense variant	-	NC_000013.11:g.41868444G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu372Phe	rs774607218	missense variant	-	NC_000013.11:g.41868444G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro373Leu	rs768798332	missense variant	-	NC_000013.11:g.41868440G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro373Ser	COSM3813834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41868441G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys374Arg	rs915194239	missense variant	-	NC_000013.11:g.41868437T>C	TOPMed
VWA8	A3KMH1	p.Lys374Asn	rs367695316	missense variant	-	NC_000013.11:g.41868436T>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu375Asp	rs61752291	missense variant	-	NC_000013.11:g.41868433C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Glu375Lys	rs775565606	missense variant	-	NC_000013.11:g.41868435C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Glu375Gly	rs1186449380	missense variant	-	NC_000013.11:g.41868434T>C	gnomAD
VWA8	A3KMH1	p.Ile376Thr	rs746952389	missense variant	-	NC_000013.11:g.41868431A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Val377Leu	rs1210259933	missense variant	-	NC_000013.11:g.41868429C>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Lys378Arg	rs777752424	missense variant	-	NC_000013.11:g.41868425T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Val379Ile	rs1318361336	missense variant	-	NC_000013.11:g.41868423C>T	TOPMed
VWA8	A3KMH1	p.Lys381Glu	rs1432365370	missense variant	-	NC_000013.11:g.41868417T>C	TOPMed
VWA8	A3KMH1	p.Met383Thr	rs3742262	missense variant	-	NC_000013.11:g.41868410A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met383Thr	rs3742262	missense variant	-	NC_000013.11:g.41868410A>G	UniProt,dbSNP
VWA8	A3KMH1	p.Met383Thr	VAR_044338	missense variant	-	NC_000013.11:g.41868410A>G	UniProt
VWA8	A3KMH1	p.Met383Val	rs373599044	missense variant	-	NC_000013.11:g.41868411T>C	ESP
VWA8	A3KMH1	p.Met383Ile	rs144180077	missense variant	-	NC_000013.11:g.41868409C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met383Lys	rs3742262	missense variant	-	NC_000013.11:g.41868410A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu384Gly	rs753332078	missense variant	-	NC_000013.11:g.41868407T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn385Ser	rs765994877	missense variant	-	NC_000013.11:g.41868404T>C	ExAC,gnomAD
VWA8	A3KMH1	p.His386Arg	rs1321442211	missense variant	-	NC_000013.11:g.41868401T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.His386Pro	rs1321442211	missense variant	-	NC_000013.11:g.41868401T>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Val387Leu	rs755756281	missense variant	-	NC_000013.11:g.41868399C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ser388Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41868395G>A	NCI-TCGA
VWA8	A3KMH1	p.Gln389Ter	rs768190464	stop gained	-	NC_000013.11:g.41868393G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala390Val	rs536324286	missense variant	-	NC_000013.11:g.41868389G>A	gnomAD
VWA8	A3KMH1	p.Ala390Pro	rs762203197	missense variant	-	NC_000013.11:g.41868390C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ser391Ala	rs764324144	missense variant	-	NC_000013.11:g.41868387A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Val392Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41868383A>C	NCI-TCGA
VWA8	A3KMH1	p.Val392Ala	rs140268494	missense variant	-	NC_000013.11:g.41868383A>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr393Asn	rs1194866971	missense variant	-	NC_000013.11:g.41868380G>T	gnomAD
VWA8	A3KMH1	p.Thr393Pro	rs775480070	missense variant	-	NC_000013.11:g.41868381T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Arg395Trp	rs769859050	missense variant	-	NC_000013.11:g.41868375G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg395Gln	rs190136021	missense variant	-	NC_000013.11:g.41868374C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala397Thr	rs1454594127	missense variant	-	NC_000013.11:g.41868369C>T	TOPMed
VWA8	A3KMH1	p.Asp398Val	rs773104582	missense variant	-	NC_000013.11:g.41868365T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asp398Gly	rs773104582	missense variant	-	NC_000013.11:g.41868365T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Lys399Glu	rs1294615042	missense variant	-	NC_000013.11:g.41868363T>C	gnomAD
VWA8	A3KMH1	p.Glu400Gln	rs1025646760	missense variant	-	NC_000013.11:g.41868360C>G	TOPMed
VWA8	A3KMH1	p.Val401Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41868357C>T	NCI-TCGA
VWA8	A3KMH1	p.Val401Glu	rs771936205	missense variant	-	NC_000013.11:g.41868356A>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr402Ile	rs373638942	missense variant	-	NC_000013.11:g.41868353G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr402Asn	rs373638942	missense variant	-	NC_000013.11:g.41868353G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile403Leu	rs747303832	missense variant	-	NC_000013.11:g.41868351T>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys404Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41868347T>G	NCI-TCGA
VWA8	A3KMH1	p.Pro406Leu	rs1401298041	missense variant	-	NC_000013.11:g.41866032G>A	gnomAD
VWA8	A3KMH1	p.Ala407Gly	rs1470791211	missense variant	-	NC_000013.11:g.41866029G>C	gnomAD
VWA8	A3KMH1	p.Ala407Thr	rs1172769893	missense variant	-	NC_000013.11:g.41866030C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Ala407Pro	COSM1366922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41866030C>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly408Arg	rs17062601	missense variant	-	NC_000013.11:g.41866027C>T	UniProt,dbSNP
VWA8	A3KMH1	p.Gly408Arg	VAR_044339	missense variant	-	NC_000013.11:g.41866027C>T	UniProt
VWA8	A3KMH1	p.Gly408Arg	rs17062601	missense variant	-	NC_000013.11:g.41866027C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr409Ile	rs368920557	missense variant	-	NC_000013.11:g.41866023G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu411Pro	rs913077065	missense variant	-	NC_000013.11:g.41866017A>G	TOPMed
VWA8	A3KMH1	p.Leu412Phe	rs186045616	missense variant	-	NC_000013.11:g.41866013T>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser413Gly	COSM337000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41866012T>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gln414Ter	rs780576258	stop gained	-	NC_000013.11:g.41866009G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Pro415Ser	rs1422235652	missense variant	-	NC_000013.11:g.41866006G>A	TOPMed
VWA8	A3KMH1	p.Pro415Leu	rs988675461	missense variant	-	NC_000013.11:g.41866005G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Ala417Val	rs148797761	missense variant	-	NC_000013.11:g.41865999G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser418Ter	rs1281192147	stop gained	-	NC_000013.11:g.41865996G>C	gnomAD
VWA8	A3KMH1	p.Ser418Thr	rs1351255280	missense variant	-	NC_000013.11:g.41865997A>T	gnomAD
VWA8	A3KMH1	p.Asp419Glu	rs546608189	missense variant	-	NC_000013.11:g.41865992G>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Arg420His	rs765397161	missense variant	-	NC_000013.11:g.41865990C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Arg420Cys	rs149624650	missense variant	-	NC_000013.11:g.41865991G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg420Ser	rs149624650	missense variant	-	NC_000013.11:g.41865991G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe421Cys	rs1454197855	missense variant	-	NC_000013.11:g.41865987A>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Ile422Met	rs759768480	missense variant	-	NC_000013.11:g.41865983T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile422Leu	rs1386037052	missense variant	-	NC_000013.11:g.41865985T>A	gnomAD
VWA8	A3KMH1	p.Gln423His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41865980C>A	NCI-TCGA
VWA8	A3KMH1	p.Gln423Leu	rs753849620	missense variant	-	NC_000013.11:g.41865981T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Leu425Ter	rs766368344	stop gained	-	NC_000013.11:g.41865975A>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ser426Asn	rs1316392756	missense variant	-	NC_000013.11:g.41865972C>T	TOPMed
VWA8	A3KMH1	p.His427Arg	rs760871639	missense variant	-	NC_000013.11:g.41865969T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Lys428Arg	rs953420712	missense variant	-	NC_000013.11:g.41865966T>C	TOPMed
VWA8	A3KMH1	p.Gln429Arg	rs774136328	missense variant	-	NC_000013.11:g.41865963T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln431His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41865956C>A	NCI-TCGA
VWA8	A3KMH1	p.Met435Val	rs1308268087	missense variant	-	NC_000013.11:g.41865946T>C	gnomAD
VWA8	A3KMH1	p.Met435Ile	rs542752059	missense variant	-	NC_000013.11:g.41865944C>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Ser437Phe	rs372912149	missense variant	-	NC_000013.11:g.41865939G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.His438Gln	rs775444732	missense variant	-	NC_000013.11:g.41865935G>T	ExAC
VWA8	A3KMH1	p.Met439Ile	rs1275438476	missense variant	-	NC_000013.11:g.41865932C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Met439Val	rs769508456	missense variant	-	NC_000013.11:g.41865934T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Lys441Glu	rs1447627492	missense variant	-	NC_000013.11:g.41865928T>C	gnomAD
VWA8	A3KMH1	p.Asp442Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41865925C>A	NCI-TCGA
VWA8	A3KMH1	p.Asp442His	rs369769622	missense variant	-	NC_000013.11:g.41865925C>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp442Glu	rs1226524084	missense variant	-	NC_000013.11:g.41865923A>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Ile443Val	rs139296787	missense variant	-	NC_000013.11:g.41865922T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile443Leu	rs139296787	missense variant	-	NC_000013.11:g.41865922T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile443Thr	rs746575842	missense variant	-	NC_000013.11:g.41865921A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile443Arg	rs746575842	missense variant	-	NC_000013.11:g.41865921A>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys444Tyr	rs146325541	missense variant	-	NC_000013.11:g.41865918C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys444Phe	rs146325541	missense variant	-	NC_000013.11:g.41865918C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys444Arg	rs902070992	missense variant	-	NC_000013.11:g.41865919A>G	TOPMed
VWA8	A3KMH1	p.Ile446Val	rs1315560228	missense variant	-	NC_000013.11:g.41865913T>C	gnomAD
VWA8	A3KMH1	p.Gly447Glu	rs758928828	missense variant	-	NC_000013.11:g.41865909C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly447Arg	rs1362826820	missense variant	-	NC_000013.11:g.41865910C>T	gnomAD
VWA8	A3KMH1	p.Gly448Glu	rs1454939949	missense variant	-	NC_000013.11:g.41865906C>T	TOPMed
VWA8	A3KMH1	p.Lys449Thr	rs748456580	missense variant	-	NC_000013.11:g.41865903T>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys451Phe	rs776124885	missense variant	-	NC_000013.11:g.41865809C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Cys451Tyr	rs776124885	missense variant	-	NC_000013.11:g.41865809C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly452Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41865806C>A	NCI-TCGA
VWA8	A3KMH1	p.Lys453Arg	rs770655085	missense variant	-	NC_000013.11:g.41865803T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ala457Thr	rs186939342	missense variant	-	NC_000013.11:g.41865792C>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Lys458Ter	rs138791520	stop gained	-	NC_000013.11:g.41865789T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala461Gly	rs1254734087	missense variant	-	NC_000013.11:g.41865779G>C	gnomAD
VWA8	A3KMH1	p.Ala461Pro	rs370956684	missense variant	-	NC_000013.11:g.41865780C>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp462Asn	rs61744773	missense variant	-	NC_000013.11:g.41865777C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr463Ile	rs1189743674	missense variant	-	NC_000013.11:g.41865773G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Asn467Asp	rs1477721594	missense variant	-	NC_000013.11:g.41865762T>C	gnomAD
VWA8	A3KMH1	p.Ile468Thr	rs749705341	missense variant	-	NC_000013.11:g.41865758A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ile468Val	rs925745125	missense variant	-	NC_000013.11:g.41865759T>C	TOPMed
VWA8	A3KMH1	p.Pro470Ser	rs1201480363	missense variant	-	NC_000013.11:g.41865753G>A	gnomAD
VWA8	A3KMH1	p.Ile471Val	rs199670827	missense variant	-	NC_000013.11:g.41865750T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met472Thr	rs1268420974	missense variant	-	NC_000013.11:g.41865746A>G	TOPMed
VWA8	A3KMH1	p.Tyr474Cys	rs1224413524	missense variant	-	NC_000013.11:g.41865740T>C	TOPMed
VWA8	A3KMH1	p.Tyr474His	rs750410478	missense variant	-	NC_000013.11:g.41865741A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Met477Ile	rs1386932266	missense variant	-	NC_000013.11:g.41833526C>T	gnomAD
VWA8	A3KMH1	p.Thr478Ser	rs1186263616	missense variant	-	NC_000013.11:g.41833525T>A	gnomAD
VWA8	A3KMH1	p.Thr478Ala	rs1186263616	missense variant	-	NC_000013.11:g.41833525T>C	gnomAD
VWA8	A3KMH1	p.Ala479Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41833522C>T	NCI-TCGA
VWA8	A3KMH1	p.Ala479Val	rs763516783	missense variant	-	NC_000013.11:g.41833521G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg480Pro	rs369778717	missense variant	-	NC_000013.11:g.41833518C>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg480His	rs369778717	missense variant	-	NC_000013.11:g.41833518C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg480Cys	rs61752292	missense variant	-	NC_000013.11:g.41833519G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg480His	rs369778717	missense variant	-	NC_000013.11:g.41833518C>T	NCI-TCGA
VWA8	A3KMH1	p.Leu483Pro	rs1222455250	missense variant	-	NC_000013.11:g.41833509A>G	gnomAD
VWA8	A3KMH1	p.Gln484Ter	rs1284867196	stop gained	-	NC_000013.11:g.41833507G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg486Gly	rs1388881282	missense variant	-	NC_000013.11:g.41833501T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr487Asn	rs998093353	missense variant	-	NC_000013.11:g.41833498A>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Thr488Ala	rs1360615919	missense variant	-	NC_000013.11:g.41833495T>C	gnomAD
VWA8	A3KMH1	p.Leu489Pro	rs771309683	missense variant	-	NC_000013.11:g.41833491A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Leu489Arg	rs771309683	missense variant	-	NC_000013.11:g.41833491A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asp493Val	rs778005373	missense variant	-	NC_000013.11:g.41833479T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ala495Thr	rs1365645763	missense variant	-	NC_000013.11:g.41833474C>T	gnomAD
VWA8	A3KMH1	p.Arg497Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41833467C>T	NCI-TCGA
VWA8	A3KMH1	p.Arg497Trp	rs753803187	missense variant	-	NC_000013.11:g.41833468G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser498Pro	rs1367142530	missense variant	-	NC_000013.11:g.41833465A>G	gnomAD
VWA8	A3KMH1	p.Ser499Leu	rs1166488020	missense variant	-	NC_000013.11:g.41833461G>A	gnomAD
VWA8	A3KMH1	p.Ser499Thr	rs1015860684	missense variant	-	NC_000013.11:g.41833462A>T	TOPMed
VWA8	A3KMH1	p.Ser499Leu	rs1166488020	missense variant	-	NC_000013.11:g.41833461G>A	NCI-TCGA
VWA8	A3KMH1	p.Asn503Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41833450T>C	NCI-TCGA
VWA8	A3KMH1	p.Asn503Ser	rs755909204	missense variant	-	NC_000013.11:g.41833449T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu506Gln	rs1430917224	missense variant	-	NC_000013.11:g.41833440A>T	gnomAD
VWA8	A3KMH1	p.Gly508Ser	rs767112124	missense variant	-	NC_000013.11:g.41833435C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Lys509Arg	rs199993820	missense variant	-	NC_000013.11:g.41833431T>C	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Lys509Asn	rs763718875	missense variant	-	NC_000013.11:g.41833430C>G	TOPMed
VWA8	A3KMH1	p.Leu510Val	rs1005355483	missense variant	-	NC_000013.11:g.41833429G>C	TOPMed
VWA8	A3KMH1	p.Val511Phe	COSM1322887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41833426C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asp514Gly	rs1490660402	missense variant	-	NC_000013.11:g.41833416T>C	gnomAD
VWA8	A3KMH1	p.Gly515Asp	rs1271414675	missense variant	-	NC_000013.11:g.41833413C>T	NCI-TCGA
VWA8	A3KMH1	p.Gly515Asp	rs1271414675	missense variant	-	NC_000013.11:g.41833413C>T	gnomAD
VWA8	A3KMH1	p.His517Arg	rs1338931041	missense variant	-	NC_000013.11:g.41833407T>C	gnomAD
VWA8	A3KMH1	p.Arg518Leu	rs776040339	missense variant	-	NC_000013.11:g.41833404C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg518Pro	rs776040339	missense variant	-	NC_000013.11:g.41833404C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg518Trp	rs375266930	missense variant	-	NC_000013.11:g.41833405G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg518Gln	rs776040339	missense variant	-	NC_000013.11:g.41833404C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg518Gly	rs375266930	missense variant	-	NC_000013.11:g.41833405G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala521Val	rs370489685	missense variant	-	NC_000013.11:g.41833395G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala521Thr	rs765701971	missense variant	-	NC_000013.11:g.41833396C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ala521Glu	rs370489685	missense variant	-	NC_000013.11:g.41833395G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly522Ser	rs1347356087	missense variant	-	NC_000013.11:g.41833393C>T	gnomAD
VWA8	A3KMH1	p.Gly522Val	COSM696557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41833392C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Thr523Met	rs773626984	missense variant	-	NC_000013.11:g.41833389G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr523Pro	rs202209711	missense variant	-	NC_000013.11:g.41833390T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Leu524Phe	rs1200778063	missense variant	-	NC_000013.11:g.41833387G>A	TOPMed
VWA8	A3KMH1	p.Ala525Ser	rs748219983	missense variant	-	NC_000013.11:g.41833384C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Val526Ile	rs780003441	missense variant	-	NC_000013.11:g.41833381C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu527Phe	rs756032217	missense variant	-	NC_000013.11:g.41833376C>A	ExAC,gnomAD
VWA8	A3KMH1	p.His532Arg	rs1454310352	missense variant	-	NC_000013.11:g.41830634T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp533Val	rs898504770	missense variant	-	NC_000013.11:g.41830631T>A	TOPMed
VWA8	A3KMH1	p.Asp533Tyr	rs930043999	missense variant	-	NC_000013.11:g.41830632C>A	TOPMed
VWA8	A3KMH1	p.Arg534Ter	rs1180405587	stop gained	-	NC_000013.11:g.41830629G>A	NCI-TCGA
VWA8	A3KMH1	p.Arg534Ter	rs1180405587	stop gained	-	NC_000013.11:g.41830629G>A	TOPMed
VWA8	A3KMH1	p.Arg534Gln	rs1038338883	missense variant	-	NC_000013.11:g.41830628C>T	TOPMed
VWA8	A3KMH1	p.Ser537Arg	rs145835358	missense variant	-	NC_000013.11:g.41830618G>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr539Cys	rs745797795	missense variant	-	NC_000013.11:g.41830613T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asp548Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41830587C>A	NCI-TCGA
VWA8	A3KMH1	p.Asp548Asn	rs1030672676	missense variant	-	NC_000013.11:g.41830587C>T	gnomAD
VWA8	A3KMH1	p.Arg549Lys	rs746843860	missense variant	-	NC_000013.11:g.41830583C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Arg549Gly	rs757021872	missense variant	-	NC_000013.11:g.41830584T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr550His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41830581A>G	NCI-TCGA
VWA8	A3KMH1	p.Tyr550Cys	rs777440694	missense variant	-	NC_000013.11:g.41830580T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met551Arg	rs1446689297	missense variant	-	NC_000013.11:g.41830577A>C	gnomAD
VWA8	A3KMH1	p.Arg552Cys	rs373156312	missense variant	-	NC_000013.11:g.41830575G>A	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Arg552His	rs41288297	missense variant	-	NC_000013.11:g.41830574C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys554Asn	rs200753228	missense variant	-	NC_000013.11:g.41830567C>A	gnomAD
VWA8	A3KMH1	p.Glu555Gly	rs754375505	missense variant	-	NC_000013.11:g.41830565T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Glu556Asp	rs1370689701	missense variant	-	NC_000013.11:g.41830561C>G	TOPMed
VWA8	A3KMH1	p.Glu556Ala	COSM1470710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41830562T>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gln558Ter	rs1247630081	stop gained	-	NC_000013.11:g.41830557G>A	gnomAD
VWA8	A3KMH1	p.Leu559Pro	rs750777272	missense variant	-	NC_000013.11:g.41830553A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu559Gln	rs750777272	missense variant	-	NC_000013.11:g.41830553A>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser560Pro	rs1430793550	missense variant	-	NC_000013.11:g.41830551A>G	gnomAD
VWA8	A3KMH1	p.Asp561Asn	rs1374603133	missense variant	-	NC_000013.11:g.41830548C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asp561Val	rs1327721817	missense variant	-	NC_000013.11:g.41830547T>A	gnomAD
VWA8	A3KMH1	p.Asp561Asn	rs1374603133	missense variant	-	NC_000013.11:g.41830548C>T	TOPMed
VWA8	A3KMH1	p.Glu562Asp	rs1223304717	missense variant	-	NC_000013.11:g.41830543T>A	TOPMed
VWA8	A3KMH1	p.Glu562Lys	rs1300579803	missense variant	-	NC_000013.11:g.41830545C>T	gnomAD
VWA8	A3KMH1	p.Gln565Arg	rs201603228	missense variant	-	NC_000013.11:g.41830535T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln565Ter	rs539354050	stop gained	-	NC_000013.11:g.41830536G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys566Arg	rs1426743095	missense variant	-	NC_000013.11:g.41830532T>C	gnomAD
VWA8	A3KMH1	p.Arg567Thr	rs145075481	missense variant	-	NC_000013.11:g.41830529C>G	ESP,gnomAD
VWA8	A3KMH1	p.Phe570LeuProPhe	NCI-TCGA novel	insertion	-	NC_000013.11:g.41819380_41819381insGGTAAGAAG	NCI-TCGA
VWA8	A3KMH1	p.Phe570AspPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41819380_41819381insGGTAAGAAGAAAGCCAATCTTAGTCT	NCI-TCGA
VWA8	A3KMH1	p.Pro571Ser	COSM1706722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41819376G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile572Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41819372A>T	NCI-TCGA
VWA8	A3KMH1	p.Ile572Val	rs762977773	missense variant	-	NC_000013.11:g.41819373T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile572Met	rs1480039814	missense variant	-	NC_000013.11:g.41819371G>C	gnomAD
VWA8	A3KMH1	p.Pro574Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41819367G>A	NCI-TCGA
VWA8	A3KMH1	p.Pro574Leu	rs770795153	missense variant	-	NC_000013.11:g.41819366G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ser575Phe	rs1489781902	missense variant	-	NC_000013.11:g.41819363G>A	TOPMed
VWA8	A3KMH1	p.Ile578Val	rs760532703	missense variant	-	NC_000013.11:g.41819355T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ala580Thr	rs1193604242	missense variant	-	NC_000013.11:g.41819349C>T	gnomAD
VWA8	A3KMH1	p.Ala582Val	rs1204707185	missense variant	-	NC_000013.11:g.41819342G>A	gnomAD
VWA8	A3KMH1	p.Ala582Thr	rs773266783	missense variant	-	NC_000013.11:g.41819343C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Pro584His	rs202013216	missense variant	-	NC_000013.11:g.41819336G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro584Ser	rs771741924	missense variant	-	NC_000013.11:g.41819337G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Val586Phe	rs778670406	missense variant	-	NC_000013.11:g.41819331C>A	ExAC,TOPMed
VWA8	A3KMH1	p.Val586Phe	rs778670406	missense variant	-	NC_000013.11:g.41819331C>A	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile587Thr	rs1222396556	missense variant	-	NC_000013.11:g.41819327A>G	gnomAD
VWA8	A3KMH1	p.Ser589Arg	rs528201293	missense variant	-	NC_000013.11:g.41819320G>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr590Ile	rs1413015967	missense variant	-	NC_000013.11:g.41819318G>A	TOPMed
VWA8	A3KMH1	p.Ala591Thr	rs1284453031	missense variant	-	NC_000013.11:g.41819316C>T	gnomAD
VWA8	A3KMH1	p.His592Arg	rs1221502472	missense variant	-	NC_000013.11:g.41819312T>C	gnomAD
VWA8	A3KMH1	p.Trp594Ter	rs151124989	stop gained	-	NC_000013.11:g.41819305C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Trp594Cys	rs151124989	missense variant	-	NC_000013.11:g.41819305C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly596Val	rs201454257	missense variant	-	NC_000013.11:g.41819300C>A	1000Genomes,ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Gly596Glu	rs201454257	missense variant	-	NC_000013.11:g.41819300C>T	1000Genomes,ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Pro597Ser	rs901119213	missense variant	-	NC_000013.11:g.41819298G>A	TOPMed
VWA8	A3KMH1	p.Pro597Ser	rs901119213	missense variant	-	NC_000013.11:g.41819298G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Glu598Lys	COSM3468942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41819295C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Leu600Ser	rs142910513	missense variant	-	NC_000013.11:g.41819288A>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr601Ile	rs764249666	missense variant	-	NC_000013.11:g.41819285G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Thr601Ile	rs764249666	missense variant	-	NC_000013.11:g.41819285G>A	NCI-TCGA
VWA8	A3KMH1	p.Met602Val	rs974201691	missense variant	-	NC_000013.11:g.41819283T>C	TOPMed
VWA8	A3KMH1	p.Met602Ile	rs758632032	missense variant	-	NC_000013.11:g.41819281C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe604Leu	rs752707002	missense variant	-	NC_000013.11:g.41819277A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Phe604Ile	COSM3468941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41819277A>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.His606Arg	rs765297028	missense variant	-	NC_000013.11:g.41819270T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Met608Val	rs759710562	missense variant	-	NC_000013.11:g.41819265T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu611Phe	rs772993272	missense variant	-	NC_000013.11:g.41819256G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu611Arg	rs1202684552	missense variant	-	NC_000013.11:g.41819255A>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Val612Ala	rs767523920	missense variant	-	NC_000013.11:g.41819252A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Val612Gly	COSM3468940	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41819252A>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys613Asn	rs148551844	missense variant	-	NC_000013.11:g.41819248T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys613Ile	rs761468348	missense variant	-	NC_000013.11:g.41819249T>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile620Val	rs768360092	missense variant	-	NC_000013.11:g.41819229T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile620Thr	rs1306673699	missense variant	-	NC_000013.11:g.41819228A>G	gnomAD
VWA8	A3KMH1	p.Lys623Arg	rs748948079	missense variant	-	NC_000013.11:g.41819219T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Val624Ala	rs1341091313	missense variant	-	NC_000013.11:g.41816774A>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro625Leu	rs141997392	missense variant	-	NC_000013.11:g.41816771G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn626Asp	rs1167927874	missense variant	-	NC_000013.11:g.41816769T>C	gnomAD
VWA8	A3KMH1	p.Val627Ile	rs755243649	missense variant	-	NC_000013.11:g.41816766C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro628Ser	rs1394413146	missense variant	-	NC_000013.11:g.41816763G>A	NCI-TCGA
VWA8	A3KMH1	p.Pro628Ser	rs1394413146	missense variant	-	NC_000013.11:g.41816763G>A	gnomAD
VWA8	A3KMH1	p.Gln629LeuTerHisGlnArgUnk	rs778631498	stop gained	-	NC_000013.11:g.41816759_41816760insCGCTGATGTTATA	ExAC
VWA8	A3KMH1	p.Glu630Lys	rs1261886384	missense variant	-	NC_000013.11:g.41816757C>T	gnomAD
VWA8	A3KMH1	p.Ala631Thr	rs753795785	missense variant	-	NC_000013.11:g.41816754C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Leu632Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41816751G>C	NCI-TCGA
VWA8	A3KMH1	p.Lys634Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41816744T>G	NCI-TCGA
VWA8	A3KMH1	p.Lys634Asn	rs751524282	missense variant	-	NC_000013.11:g.41816743C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys634Arg	rs756323933	missense variant	-	NC_000013.11:g.41816744T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu635Phe	rs764162468	missense variant	-	NC_000013.11:g.41816740T>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser637Pro	rs752560302	missense variant	-	NC_000013.11:g.41816736A>G	ExAC
VWA8	A3KMH1	p.His640Tyr	rs1225604075	missense variant	-	NC_000013.11:g.41816727G>A	gnomAD
VWA8	A3KMH1	p.Lys641Gln	rs775846977	missense variant	-	NC_000013.11:g.41816724T>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu642Phe	rs759229890	missense variant	-	NC_000013.11:g.41816721G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Arg643Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41816717C>G	NCI-TCGA
VWA8	A3KMH1	p.Glu644Gly	rs1220319424	missense variant	-	NC_000013.11:g.41816714T>C	gnomAD
VWA8	A3KMH1	p.Thr645Pro	rs1354349391	missense variant	-	NC_000013.11:g.41816712T>G	TOPMed
VWA8	A3KMH1	p.Gln646ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.41816709_41816710insT	NCI-TCGA
VWA8	A3KMH1	p.Gln646Ter	rs1343601617	stop gained	-	NC_000013.11:g.41816709G>A	gnomAD
VWA8	A3KMH1	p.Asp647Gly	rs1388102119	missense variant	-	NC_000013.11:g.41816705T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Thr649AsnTrpGluTyr	NCI-TCGA novel	insertion	-	NC_000013.11:g.41811340_41811341insATATTCCCAATT	NCI-TCGA
VWA8	A3KMH1	p.Thr649Ala	rs1307083625	missense variant	-	NC_000013.11:g.41816700T>C	TOPMed
VWA8	A3KMH1	p.Thr649Lys	rs760226748	missense variant	-	NC_000013.11:g.41816699G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr649Met	rs760226748	missense variant	-	NC_000013.11:g.41816699G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr649Arg	rs760226748	missense variant	-	NC_000013.11:g.41816699G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala650Ser	rs1418677372	missense variant	-	NC_000013.11:g.41811340C>A	gnomAD
VWA8	A3KMH1	p.Ala650Val	rs1238985422	missense variant	-	NC_000013.11:g.41811339G>A	gnomAD
VWA8	A3KMH1	p.Gln651Glu	rs139093046	missense variant	-	NC_000013.11:g.41811337G>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln651Arg	rs1177557570	missense variant	-	NC_000013.11:g.41811336T>C	TOPMed
VWA8	A3KMH1	p.Ser652Ter	rs1262602184	stop gained	-	NC_000013.11:g.41811333G>T	gnomAD
VWA8	A3KMH1	p.Ala654Glu	rs370360481	missense variant	-	NC_000013.11:g.41811327G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala654Val	rs370360481	missense variant	-	NC_000013.11:g.41811327G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala655Pro	rs1258685830	missense variant	-	NC_000013.11:g.41811325C>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Ser656Pro	rs749650029	missense variant	-	NC_000013.11:g.41811322A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser658Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41811315G>T	NCI-TCGA
VWA8	A3KMH1	p.Thr659Ala	rs775745922	missense variant	-	NC_000013.11:g.41811313T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg660Ter	rs9562353	stop gained	-	NC_000013.11:g.41811310T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg660Gly	rs9562353	missense variant	-	NC_000013.11:g.41811310T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu663Trp	rs1049452641	missense variant	-	NC_000013.11:g.41811300A>C	TOPMed
VWA8	A3KMH1	p.Leu663Ser	rs1049452641	missense variant	-	NC_000013.11:g.41811300A>G	TOPMed
VWA8	A3KMH1	p.Arg664Leu	rs149571852	missense variant	-	NC_000013.11:g.41811297C>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg664Ter	rs757480126	stop gained	-	NC_000013.11:g.41811298G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg664Gly	rs757480126	missense variant	-	NC_000013.11:g.41811298G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg664Gln	rs149571852	missense variant	-	NC_000013.11:g.41811297C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg667Leu	rs753597681	missense variant	-	NC_000013.11:g.41811288C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg667Cys	rs572989264	missense variant	-	NC_000013.11:g.41811289G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg667His	rs753597681	missense variant	-	NC_000013.11:g.41811288C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg667Gly	rs572989264	missense variant	-	NC_000013.11:g.41811289G>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg668Gln	RCV000755133	missense variant	Nonsyndromic cleft lip palate	NC_000013.11:g.41811285C>T	ClinVar
VWA8	A3KMH1	p.Arg668Trp	rs765958170	missense variant	-	NC_000013.11:g.41811286G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg668Gln	rs138075452	missense variant	-	NC_000013.11:g.41811285C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu669Pro	rs376324990	missense variant	-	NC_000013.11:g.41811282A>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu669Met	rs750141254	missense variant	-	NC_000013.11:g.41811283G>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gln671Arg	rs764535437	missense variant	-	NC_000013.11:g.41811276T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln671Ter	rs774887056	stop gained	-	NC_000013.11:g.41811277G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr672Phe	rs1259535758	missense variant	-	NC_000013.11:g.41811273T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro673Leu	rs1472204558	missense variant	-	NC_000013.11:g.41811270G>A	TOPMed
VWA8	A3KMH1	p.Asn674Thr	rs763332619	missense variant	-	NC_000013.11:g.41811267T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Glu675Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41811265C>A	NCI-TCGA
VWA8	A3KMH1	p.Glu675Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41811264T>G	NCI-TCGA
VWA8	A3KMH1	p.Asn676Ser	rs1160934805	missense variant	-	NC_000013.11:g.41811261T>C	TOPMed
VWA8	A3KMH1	p.Leu677Pro	rs775734333	missense variant	-	NC_000013.11:g.41811258A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Leu677Phe	COSM947497	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41811259G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Leu677Arg	COSM416360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41811258A>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ser679Gly	rs770077142	missense variant	-	NC_000013.11:g.41811253T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ala680Ser	rs1284228499	missense variant	-	NC_000013.11:g.41811250C>A	gnomAD
VWA8	A3KMH1	p.Ala684Ser	rs1449560777	missense variant	-	NC_000013.11:g.41811238C>A	gnomAD
VWA8	A3KMH1	p.Arg688Lys	rs746085724	missense variant	-	NC_000013.11:g.41811225C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe689Val	rs36166712	missense variant	-	NC_000013.11:g.41787542A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala694Gly	rs1247076595	missense variant	-	NC_000013.11:g.41787526G>C	gnomAD
VWA8	A3KMH1	p.Arg695Ser	rs1289099119	missense variant	-	NC_000013.11:g.41787522C>G	gnomAD
VWA8	A3KMH1	p.Ala697Thr	rs535298426	missense variant	-	NC_000013.11:g.41787518C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu698Ser	rs756878260	missense variant	-	NC_000013.11:g.41787514A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Glu699Asp	COSM3813832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41787510T>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asn701His	COSM469437	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41787506T>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asn701LysPheSerTerUnkUnk	COSM1366919	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41787504_41787505insT	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Leu702Pro	rs751017430	missense variant	-	NC_000013.11:g.41787502A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ala705Gly	rs1280643245	missense variant	-	NC_000013.11:g.41787493G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Thr706Ile	rs1222286805	missense variant	-	NC_000013.11:g.41787490G>A	gnomAD
VWA8	A3KMH1	p.Thr706Ala	rs1283718415	missense variant	-	NC_000013.11:g.41787491T>C	TOPMed
VWA8	A3KMH1	p.Ile707Met	rs777146194	missense variant	-	NC_000013.11:g.41787486T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile707Thr	COSM947496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41787487A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Glu708Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41787485C>A	NCI-TCGA
VWA8	A3KMH1	p.Glu708Lys	rs1445201019	missense variant	-	NC_000013.11:g.41787485C>T	TOPMed
VWA8	A3KMH1	p.Ile709Val	rs141363411	missense variant	-	NC_000013.11:g.41787482T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr711Ile	rs753234990	missense variant	-	NC_000013.11:g.41787475G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asp712Ala	rs775794513	missense variant	-	NC_000013.11:g.41787472T>G	TOPMed
VWA8	A3KMH1	p.Asp713Glu	rs759939485	missense variant	-	NC_000013.11:g.41787468G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn714Ser	rs1402637722	missense variant	-	NC_000013.11:g.41787466T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro717Ser	rs888665436	missense variant	-	NC_000013.11:g.41787458G>A	gnomAD
VWA8	A3KMH1	p.Leu719Pro	rs145957854	missense variant	-	NC_000013.11:g.41787451A>G	ESP,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys724SerPheSerPheTerPheGly	rs1192725417	stop gained	-	NC_000013.11:g.41787436_41787437insCAAATCAAAAACTGAAGG	gnomAD
VWA8	A3KMH1	p.Glu725Ala	rs1241091227	missense variant	-	NC_000013.11:g.41783898T>G	gnomAD
VWA8	A3KMH1	p.Val726Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41783895A>T	NCI-TCGA
VWA8	A3KMH1	p.Ser728Phe	rs766638475	missense variant	-	NC_000013.11:g.41783889G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg732Thr	rs1395492887	missense variant	-	NC_000013.11:g.41783877C>G	gnomAD
VWA8	A3KMH1	p.Arg732Ser	rs1380062563	missense variant	-	NC_000013.11:g.41783876C>A	gnomAD
VWA8	A3KMH1	p.Ile733Thr	rs928959610	missense variant	-	NC_000013.11:g.41783874A>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro739Ala	rs750577785	missense variant	-	NC_000013.11:g.41783857G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro739Leu	rs767808424	missense variant	-	NC_000013.11:g.41783856G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ile740Val	rs774423322	missense variant	-	NC_000013.11:g.41783854T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr741Cys	rs765095052	missense variant	-	NC_000013.11:g.41783850T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn742Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41783847T>G	NCI-TCGA
VWA8	A3KMH1	p.Asn742Lys	rs1163688745	missense variant	-	NC_000013.11:g.41783846A>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Ala743Glu	rs759469990	missense variant	-	NC_000013.11:g.41783844G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.His744Gln	rs770611566	missense variant	-	NC_000013.11:g.41783840A>T	ExAC,gnomAD
VWA8	A3KMH1	p.His744Asn	rs548454195	missense variant	-	NC_000013.11:g.41783842G>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Glu745Lys	rs142058892	missense variant	-	NC_000013.11:g.41783839C>T	ESP,TOPMed,gnomAD
VWA8	A3KMH1	p.Val749Leu	rs141078922	missense variant	-	NC_000013.11:g.41783827C>G	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Val749Met	rs141078922	missense variant	-	NC_000013.11:g.41783827C>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Val752Phe	rs771873954	missense variant	-	NC_000013.11:g.41783818C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val752Ile	rs771873954	missense variant	-	NC_000013.11:g.41783818C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu753Pro	rs747594865	missense variant	-	NC_000013.11:g.41783814A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Phe754Leu	COSM947494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41783810G>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Tyr755Cys	rs562820856	missense variant	-	NC_000013.11:g.41783808T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn757Lys	rs1322344070	missense variant	-	NC_000013.11:g.41783801G>C	gnomAD
VWA8	A3KMH1	p.Ile758Phe	rs754592077	missense variant	-	NC_000013.11:g.41783800T>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile758Val	rs754592077	missense variant	-	NC_000013.11:g.41783800T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln759Arg	rs749788532	missense variant	-	NC_000013.11:g.41783796T>C	ExAC,gnomAD
VWA8	A3KMH1	p.His760Pro	rs138051115	missense variant	-	NC_000013.11:g.41778055T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val761Leu	rs1369403207	missense variant	-	NC_000013.11:g.41778053C>A	gnomAD
VWA8	A3KMH1	p.Val761Ala	rs1300362778	missense variant	-	NC_000013.11:g.41778052A>G	gnomAD
VWA8	A3KMH1	p.Val763Ala	rs1442014161	missense variant	-	NC_000013.11:g.41778046A>G	TOPMed
VWA8	A3KMH1	p.Met764Val	rs201602938	missense variant	-	NC_000013.11:g.41778044T>C	1000Genomes,TOPMed
VWA8	A3KMH1	p.Met764Lys	rs1369252043	missense variant	-	NC_000013.11:g.41778043A>T	gnomAD
VWA8	A3KMH1	p.Met767Val	rs78259398	missense variant	-	NC_000013.11:g.41778035T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met767Thr	rs781619795	missense variant	-	NC_000013.11:g.41778034A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Asp770Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41778026C>A	NCI-TCGA
VWA8	A3KMH1	p.Leu772Pro	rs977107395	missense variant	-	NC_000013.11:g.41778019A>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Leu773Ile	rs148830638	missense variant	-	NC_000013.11:g.41778017G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu773Phe	rs148830638	missense variant	-	NC_000013.11:g.41778017G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val780Ala	rs528075894	missense variant	-	NC_000013.11:g.41777995A>G	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Val785Ile	rs961656869	missense variant	-	NC_000013.11:g.41761201C>T	gnomAD
VWA8	A3KMH1	p.Gly786Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41761198C>A	NCI-TCGA
VWA8	A3KMH1	p.Gly786Glu	rs761648669	missense variant	-	NC_000013.11:g.41761197C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly786Arg	rs1397123690	missense variant	-	NC_000013.11:g.41761198C>G	gnomAD
VWA8	A3KMH1	p.Lys787Arg	rs751411630	missense variant	-	NC_000013.11:g.41761194T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asn788ThrPheSerTerUnkUnk	COSM5078845	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41761191T>-	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys789Asn	rs763769133	missense variant	-	NC_000013.11:g.41761187C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys789Asn	COSM1322888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41761187C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile790Phe	rs762658927	missense variant	-	NC_000013.11:g.41761186T>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile790Thr	rs769329444	missense variant	-	NC_000013.11:g.41761185A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ile790Asn	rs769329444	missense variant	-	NC_000013.11:g.41761185A>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ile790Ser	rs769329444	missense variant	-	NC_000013.11:g.41761185A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Val791Ile	rs1367972497	missense variant	-	NC_000013.11:g.41761183C>T	gnomAD
VWA8	A3KMH1	p.Asp792Gly	rs1188099618	missense variant	-	NC_000013.11:g.41761179T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg793Gly	rs1444086868	missense variant	-	NC_000013.11:g.41761177T>C	gnomAD
VWA8	A3KMH1	p.Phe794Leu	rs145470651	missense variant	-	NC_000013.11:g.41761172G>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe794Leu	rs145470651	missense variant	-	NC_000013.11:g.41761172G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu797Pro	rs771452922	missense variant	-	NC_000013.11:g.41761164A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Leu798Pro	COSM947493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41761161A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asn799Tyr	rs1005948360	missense variant	-	NC_000013.11:g.41761159T>A	gnomAD
VWA8	A3KMH1	p.Asn799Ser	rs747317410	missense variant	-	NC_000013.11:g.41761158T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro801Ser	rs371560257	missense variant	-	NC_000013.11:g.41761153G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg802Gln	rs748380246	missense variant	-	NC_000013.11:g.41761149C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg802Ter	rs368033977	stop gained	-	NC_000013.11:g.41761150G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu803Ter	rs1246099147	stop gained	-	NC_000013.11:g.41761147C>A	gnomAD
VWA8	A3KMH1	p.Glu803Gln	COSM3793292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41761147C>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile805Val	rs150051966	missense variant	-	NC_000013.11:g.41761141T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln806His	rs755043597	missense variant	-	NC_000013.11:g.41761136C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Leu807Val	rs753986493	missense variant	-	NC_000013.11:g.41761135G>C	ExAC,gnomAD
VWA8	A3KMH1	p.His808Tyr	rs781215744	missense variant	-	NC_000013.11:g.41761132G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Arg809Gly	rs1300203790	missense variant	-	NC_000013.11:g.41761129T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp810Asn	rs1167780522	missense variant	-	NC_000013.11:g.41732154C>T	TOPMed
VWA8	A3KMH1	p.Thr811Ile	rs1456025958	missense variant	-	NC_000013.11:g.41732150G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Thr815Ser	rs1174640135	missense variant	-	NC_000013.11:g.41732138G>C	TOPMed
VWA8	A3KMH1	p.Leu816Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41732136G>A	NCI-TCGA
VWA8	A3KMH1	p.Leu816Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41732136G>T	NCI-TCGA
VWA8	A3KMH1	p.Leu816Val	rs1391187614	missense variant	-	NC_000013.11:g.41732136G>C	gnomAD
VWA8	A3KMH1	p.Thr817Arg	rs746924515	missense variant	-	NC_000013.11:g.41732132G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr817Met	rs746924515	missense variant	-	NC_000013.11:g.41732132G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln819His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41732125C>G	NCI-TCGA
VWA8	A3KMH1	p.Gln819ThrSerLysLeuPro	NCI-TCGA novel	insertion	-	NC_000013.11:g.41732124_41732125insTGGTAATTTTGAGGT	NCI-TCGA
VWA8	A3KMH1	p.Pro820Ala	rs1275655663	missense variant	-	NC_000013.11:g.41732124G>C	gnomAD
VWA8	A3KMH1	p.Ser821Leu	rs758176351	missense variant	-	NC_000013.11:g.41732120G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val822Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41732118C>A	NCI-TCGA
VWA8	A3KMH1	p.Val822Ala	rs764886833	missense variant	-	NC_000013.11:g.41732117A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val822Asp	rs764886833	missense variant	-	NC_000013.11:g.41732117A>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp824Asn	rs1447368200	missense variant	-	NC_000013.11:g.41732112C>T	gnomAD
VWA8	A3KMH1	p.Gly825Arg	rs753556286	missense variant	-	NC_000013.11:g.41732109C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly825Arg	rs753556286	missense variant	-	NC_000013.11:g.41732109C>T	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Leu826Pro	rs1173913216	missense variant	-	NC_000013.11:g.41732105A>G	gnomAD
VWA8	A3KMH1	p.Leu826Phe	rs778973721	missense variant	-	NC_000013.11:g.41732106G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu826Arg	rs1173913216	missense variant	-	NC_000013.11:g.41732105A>C	gnomAD
VWA8	A3KMH1	p.Ile827Thr	rs570250165	missense variant	-	NC_000013.11:g.41732102A>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr829Phe	rs1483232216	missense variant	-	NC_000013.11:g.41732096T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp831Asn	rs767931779	missense variant	-	NC_000013.11:g.41732091C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Asp831Asn	rs767931779	missense variant	-	NC_000013.11:g.41732091C>T	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ser832Leu	rs774579164	missense variant	-	NC_000013.11:g.41732087G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser832Pro	rs762176426	missense variant	-	NC_000013.11:g.41732088A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Pro833His	rs769129079	missense variant	-	NC_000013.11:g.41732084G>T	ExAC
VWA8	A3KMH1	p.Val835Phe	rs767996904	missense variant	-	NC_000013.11:g.41729677C>A	ExAC,gnomAD
VWA8	A3KMH1	p.del837TerValUnk	rs1472769105	stop gained	-	NC_000013.11:g.41729671_41729672insCTACTTA	gnomAD
VWA8	A3KMH1	p.Val838Ala	rs1452081981	missense variant	-	NC_000013.11:g.41729667A>G	TOPMed
VWA8	A3KMH1	p.His842Arg	rs752164725	missense variant	-	NC_000013.11:g.41729655T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Val845Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41729646A>T	NCI-TCGA
VWA8	A3KMH1	p.Val845Ala	rs763454785	missense variant	-	NC_000013.11:g.41729646A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Val845Ile	rs764528146	missense variant	-	NC_000013.11:g.41729647C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val846AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.41729644_41729645insCAATTATT	NCI-TCGA
VWA8	A3KMH1	p.Val846Ala	rs140070269	missense variant	-	NC_000013.11:g.41729643A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp847Gly	rs146100016	missense variant	-	NC_000013.11:g.41729640T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys851Glu	rs1227635596	missense variant	-	NC_000013.11:g.41729629T>C	gnomAD
VWA8	A3KMH1	p.Ala852Asp	COSM4047651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41729625G>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ala852Thr	rs749328607	missense variant	-	NC_000013.11:g.41729626C>T	gnomAD
VWA8	A3KMH1	p.Pro853Thr	COSM947490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41729623G>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asn855Asp	rs1267421518	missense variant	-	NC_000013.11:g.41729617T>C	TOPMed
VWA8	A3KMH1	p.Val856Ala	rs1359736821	missense variant	-	NC_000013.11:g.41729613A>G	gnomAD
VWA8	A3KMH1	p.Thr857Pro	rs1223466228	missense variant	-	NC_000013.11:g.41729611T>G	TOPMed
VWA8	A3KMH1	p.Thr857Met	rs144806444	missense variant	-	NC_000013.11:g.41729610G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys858Tyr	rs748023848	missense variant	-	NC_000013.11:g.41729607C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile859Thr	rs778948121	missense variant	-	NC_000013.11:g.41729604A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Leu860Phe	rs370007433	missense variant	-	NC_000013.11:g.41729600T>A	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Thr862Ile	rs142882625	missense variant	-	NC_000013.11:g.41729595G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu863Val	rs9566833	missense variant	-	NC_000013.11:g.41729593G>C	gnomAD
VWA8	A3KMH1	p.Asn866LysPheSerTerUnkUnk	COSM1366917	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41729582_41729583insT	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Glu868Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41729578C>A	NCI-TCGA
VWA8	A3KMH1	p.Glu868Ala	rs1407880328	missense variant	-	NC_000013.11:g.41729577T>G	TOPMed
VWA8	A3KMH1	p.Met869Ile	rs750152710	missense variant	-	NC_000013.11:g.41729573C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Met869Val	rs770279082	missense variant	-	NC_000013.11:g.41729575T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala872Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41729565G>T	NCI-TCGA
VWA8	A3KMH1	p.Ala872Thr	rs780551578	missense variant	-	NC_000013.11:g.41729566C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Asp873Gly	rs1322464768	missense variant	-	NC_000013.11:g.41729562T>C	gnomAD
VWA8	A3KMH1	p.Gly874Ala	rs1167312214	missense variant	-	NC_000013.11:g.41729559C>G	TOPMed
VWA8	A3KMH1	p.Gly874Glu	COSM947489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41729559C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg876His	rs367830880	missense variant	-	NC_000013.11:g.41729553C>T	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg876Cys	rs756836775	missense variant	-	NC_000013.11:g.41729554G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg876His	rs367830880	missense variant	-	NC_000013.11:g.41729553C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg876Cys	rs756836775	missense variant	-	NC_000013.11:g.41729554G>A	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg876Leu	rs367830880	missense variant	-	NC_000013.11:g.41729553C>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile877Val	rs148498938	missense variant	-	NC_000013.11:g.41729551T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile877Leu	rs148498938	missense variant	-	NC_000013.11:g.41729551T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala879Val	rs753128797	missense variant	-	NC_000013.11:g.41729544G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ala882Gly	rs371338398	missense variant	-	NC_000013.11:g.41727307G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Ala882Val	rs371338398	missense variant	-	NC_000013.11:g.41727307G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Asn883Ile	rs1351002026	missense variant	-	NC_000013.11:g.41727304T>A	TOPMed
VWA8	A3KMH1	p.Arg887Lys	rs745484975	missense variant	-	NC_000013.11:g.41727292C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg887Ile	rs745484975	missense variant	-	NC_000013.11:g.41727292C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro895Ala	rs1463850077	missense variant	-	NC_000013.11:g.41727269G>C	gnomAD
VWA8	A3KMH1	p.Asp896Tyr	rs1376285975	missense variant	-	NC_000013.11:g.41727266C>A	gnomAD
VWA8	A3KMH1	p.Arg898Lys	rs41288291	missense variant	-	NC_000013.11:g.41727259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg898Gly	rs1175554114	missense variant	-	NC_000013.11:g.41727260T>C	gnomAD
VWA8	A3KMH1	p.Met899Val	rs1396924217	missense variant	-	NC_000013.11:g.41727257T>C	gnomAD
VWA8	A3KMH1	p.Ile900Asn	rs1012393458	missense variant	-	NC_000013.11:g.41727253A>T	TOPMed
VWA8	A3KMH1	p.Val901Ile	rs756686047	missense variant	-	NC_000013.11:g.41727251C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Leu902Val	rs912459800	missense variant	-	NC_000013.11:g.41727248G>C	gnomAD
VWA8	A3KMH1	p.Ala903Glu	rs1481852031	missense variant	-	NC_000013.11:g.41727244G>T	TOPMed
VWA8	A3KMH1	p.Arg905Gly	rs1178086692	missense variant	-	NC_000013.11:g.41727239T>C	TOPMed
VWA8	A3KMH1	p.Gly907Arg	rs1228514589	missense variant	-	NC_000013.11:g.41727233C>T	gnomAD
VWA8	A3KMH1	p.Gly907Val	COSM947488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41727232C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Phe908Tyr	rs1234525772	missense variant	-	NC_000013.11:g.41727229A>T	gnomAD
VWA8	A3KMH1	p.Gly912Asp	COSM1366916	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41727217C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asn913Ser	rs778370317	missense variant	-	NC_000013.11:g.41727214T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asp914Val	rs1351926529	missense variant	-	NC_000013.11:g.41727211T>A	gnomAD
VWA8	A3KMH1	p.Asp914Tyr	rs1238774354	missense variant	-	NC_000013.11:g.41727212C>A	gnomAD
VWA8	A3KMH1	p.Gly917Asp	rs372018922	missense variant	-	NC_000013.11:g.41727202C>T	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Gly917Ser	rs149311309	missense variant	-	NC_000013.11:g.41727203C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr918Ser	rs551677250	missense variant	-	NC_000013.11:g.41727199G>C	TOPMed
VWA8	A3KMH1	p.Leu919Val	rs1400448572	missense variant	-	NC_000013.11:g.41727197A>C	gnomAD
VWA8	A3KMH1	p.Gly920Ser	rs755421649	missense variant	-	NC_000013.11:g.41727194C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile922Val	rs777418952	missense variant	-	NC_000013.11:g.41721570T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ser924Arg	rs201920223	missense variant	-	NC_000013.11:g.41721562G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys925Gly	rs199589463	missense variant	-	NC_000013.11:g.41721561A>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.His926Pro	rs528090503	missense variant	-	NC_000013.11:g.41721557T>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.His926Arg	rs528090503	missense variant	-	NC_000013.11:g.41721557T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala927Glu	rs766444003	missense variant	-	NC_000013.11:g.41721554G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val928Phe	rs1355104296	missense variant	-	NC_000013.11:g.41721552C>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Val928Ala	rs138978193	missense variant	-	NC_000013.11:g.41721551A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn930Ser	rs1276738200	missense variant	-	NC_000013.11:g.41721545T>C	gnomAD
VWA8	A3KMH1	p.Asn930Tyr	rs548685948	missense variant	-	NC_000013.11:g.41721546T>A	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Pro931Ala	rs1296732345	missense variant	-	NC_000013.11:g.41721543G>C	TOPMed
VWA8	A3KMH1	p.Lys932Arg	rs765244993	missense variant	-	NC_000013.11:g.41721539T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro933Leu	rs1320601327	missense variant	-	NC_000013.11:g.41721536G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.His934Pro	rs1390115764	missense variant	-	NC_000013.11:g.41721533T>G	gnomAD
VWA8	A3KMH1	p.His934Gln	rs759197672	missense variant	-	NC_000013.11:g.41721532G>C	ExAC
VWA8	A3KMH1	p.Ser935Leu	rs776493606	missense variant	-	NC_000013.11:g.41721530G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser935Leu	rs776493606	missense variant	-	NC_000013.11:g.41721530G>A	NCI-TCGA
VWA8	A3KMH1	p.Leu937Pro	rs1475646384	missense variant	-	NC_000013.11:g.41721524A>G	gnomAD
VWA8	A3KMH1	p.Leu937Ile	rs771677754	missense variant	-	NC_000013.11:g.41721525G>T	ExAC,gnomAD
VWA8	A3KMH1	p.Glu938Lys	rs779229848	missense variant	-	NC_000013.11:g.41721522C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met939Ile	rs1253094251	missense variant	-	NC_000013.11:g.41721517C>A	gnomAD
VWA8	A3KMH1	p.Met939Leu	rs1450467793	missense variant	-	NC_000013.11:g.41721519T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Met939Val	rs1450467793	missense variant	-	NC_000013.11:g.41721519T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg941Gly	rs749826841	missense variant	-	NC_000013.11:g.41721513T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Gln942Glu	rs1256772690	missense variant	-	NC_000013.11:g.41721510G>C	gnomAD
VWA8	A3KMH1	p.Pro945Ser	rs1214341011	missense variant	-	NC_000013.11:g.41721501G>A	gnomAD
VWA8	A3KMH1	p.Asn946Ile	rs1340585379	missense variant	-	NC_000013.11:g.41721497T>A	gnomAD
VWA8	A3KMH1	p.Val947Met	rs780449711	missense variant	-	NC_000013.11:g.41721495C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Pro948Ser	rs1434600160	missense variant	-	NC_000013.11:g.41721492G>A	gnomAD
VWA8	A3KMH1	p.Glu949Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41721489C>A	NCI-TCGA
VWA8	A3KMH1	p.Glu949Asp	rs756480573	missense variant	-	NC_000013.11:g.41721487C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Pro950Ala	rs750610805	missense variant	-	NC_000013.11:g.41721486G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile951Val	COSM6139192	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41721483T>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Leu955Phe	rs781420991	missense variant	-	NC_000013.11:g.41721471G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu955Val	rs781420991	missense variant	-	NC_000013.11:g.41721471G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala957Thr	rs1410315224	missense variant	-	NC_000013.11:g.41721465C>T	gnomAD
VWA8	A3KMH1	p.Ala958Gly	rs751655787	missense variant	-	NC_000013.11:g.41721461G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Phe959Leu	rs765021641	missense variant	-	NC_000013.11:g.41721459A>G	ExAC
VWA8	A3KMH1	p.Glu961Asp	rs1477503434	missense variant	-	NC_000013.11:g.41721451C>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Glu961Gly	rs1170383090	missense variant	-	NC_000013.11:g.41721452T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Leu965Trp	rs759518109	missense variant	-	NC_000013.11:g.41721440A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Gln968Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41721431T>C	NCI-TCGA
VWA8	A3KMH1	p.Gly969Arg	rs1022328309	missense variant	-	NC_000013.11:g.41721429C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Ile970Asn	rs1438696041	missense variant	-	NC_000013.11:g.41721425A>T	gnomAD
VWA8	A3KMH1	p.Ile971Val	rs548286762	missense variant	-	NC_000013.11:g.41721423T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile971Leu	rs548286762	missense variant	-	NC_000013.11:g.41721423T>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr973His	rs771863322	missense variant	-	NC_000013.11:g.41721417A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Pro974Arg	rs267603826	missense variant	-	NC_000013.11:g.41721413G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro974Leu	rs267603826	missense variant	-	NC_000013.11:g.41721413G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ser976Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41721407G>A	NCI-TCGA
VWA8	A3KMH1	p.Ser976Pro	COSM4047648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41721408A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Thr977Ala	rs577959675	missense variant	-	NC_000013.11:g.41721405T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg978Ile	rs1278812038	missense variant	-	NC_000013.11:g.41721401C>A	gnomAD
VWA8	A3KMH1	p.Arg978Gly	rs564812230	missense variant	-	NC_000013.11:g.41721402T>C	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Val980Ile	rs747052344	missense variant	-	NC_000013.11:g.41721396C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Val980Ala	rs746251108	missense variant	-	NC_000013.11:g.41721395A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Val981Phe	rs1221332507	missense variant	-	NC_000013.11:g.41721393C>A	TOPMed
VWA8	A3KMH1	p.Asn982His	rs781336713	missense variant	-	NC_000013.11:g.41721390T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Asn982Ser	rs142994422	missense variant	-	NC_000013.11:g.41721389T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn982Asp	rs781336713	missense variant	-	NC_000013.11:g.41721390T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asn982Lys	rs751850062	missense variant	-	NC_000013.11:g.41721388G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile983Leu	rs777899479	missense variant	-	NC_000013.11:g.41721387T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Val984Gly	rs758456558	missense variant	-	NC_000013.11:g.41721383A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Lys985Ile	rs1177088012	missense variant	-	NC_000013.11:g.41721380T>A	gnomAD
VWA8	A3KMH1	p.His986Gln	rs964251019	missense variant	-	NC_000013.11:g.41721376A>C	TOPMed
VWA8	A3KMH1	p.His986Arg	rs137987043	missense variant	-	NC_000013.11:g.41721377T>C	ESP,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu987Ter	rs753777920	stop gained	-	NC_000013.11:g.41721374A>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln988Arg	rs1208431571	missense variant	-	NC_000013.11:g.41721371T>C	gnomAD
VWA8	A3KMH1	p.Gln988Ter	rs1235139762	stop gained	-	NC_000013.11:g.41721372G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln988His	rs531273557	missense variant	-	NC_000013.11:g.41721370C>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe990Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41719738A>C	NCI-TCGA
VWA8	A3KMH1	p.Phe990Leu	COSM3987406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41719739A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Pro991Leu	rs751179987	missense variant	-	NC_000013.11:g.41719735G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu993Gly	rs762464761	missense variant	-	NC_000013.11:g.41719729T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1000ProPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41719708_41719709insAGAAAATGAGGATATCTAGTAAG	NCI-TCGA
VWA8	A3KMH1	p.Arg1000Ter	rs1000451330	stop gained	-	NC_000013.11:g.41719709G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg1000Leu	rs202176681	missense variant	-	NC_000013.11:g.41719708C>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1000Ter	rs1000451330	stop gained	-	NC_000013.11:g.41719709G>A	TOPMed
VWA8	A3KMH1	p.Arg1000Gln	rs202176681	missense variant	-	NC_000013.11:g.41719708C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1000Gly	rs1000451330	missense variant	-	NC_000013.11:g.41719709G>C	TOPMed
VWA8	A3KMH1	p.Arg1000Leu	rs202176681	missense variant	-	NC_000013.11:g.41719708C>A	NCI-TCGA
VWA8	A3KMH1	p.Val1002Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41719703C>T	NCI-TCGA
VWA8	A3KMH1	p.Val1002Ala	rs1418974370	missense variant	-	NC_000013.11:g.41719702A>G	gnomAD
VWA8	A3KMH1	p.Phe1003Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41719700A>G	NCI-TCGA
VWA8	A3KMH1	p.Asp1004Val	rs1252294600	missense variant	-	NC_000013.11:g.41719696T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1006Val	rs760026353	missense variant	-	NC_000013.11:g.41719690T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr1008Cys	rs1245700003	missense variant	-	NC_000013.11:g.41719684T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Met1012Ile	rs1405757679	missense variant	-	NC_000013.11:g.41719671C>T	TOPMed
VWA8	A3KMH1	p.Glu1014Lys	rs568741767	missense variant	-	NC_000013.11:g.41719667C>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Ile1015Leu	rs747365711	missense variant	-	NC_000013.11:g.41719664T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1015Val	rs747365711	missense variant	-	NC_000013.11:g.41719664T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Thr1019Pro	rs772199651	missense variant	-	NC_000013.11:g.41719652T>G	ExAC,gnomAD
VWA8	A3KMH1	p.His1021Asp	rs779122091	missense variant	-	NC_000013.11:g.41719646G>C	ExAC,gnomAD
VWA8	A3KMH1	p.His1021Leu	rs755157457	missense variant	-	NC_000013.11:g.41719645T>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1022Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41719642T>G	NCI-TCGA
VWA8	A3KMH1	p.Tyr1023Ter	rs757024631	stop gained	-	NC_000013.11:g.41719638G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1023Ter	rs757024631	stop gained	-	NC_000013.11:g.41719638G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1024Glu	rs763737722	missense variant	-	NC_000013.11:g.41719636C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1024Arg	rs371770462	missense variant	-	NC_000013.11:g.41719637C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1025Met	rs1349861288	missense variant	-	NC_000013.11:g.41719632T>C	TOPMed
VWA8	A3KMH1	p.Pro1026Ser	rs368043801	missense variant	-	NC_000013.11:g.41719631G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1028Arg	rs148181998	missense variant	-	NC_000013.11:g.41719625C>T	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly1028Arg	rs148181998	missense variant	-	NC_000013.11:g.41719625C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1032Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41719612G>A	NCI-TCGA
VWA8	A3KMH1	p.Ser1033Gly	rs761044571	missense variant	-	NC_000013.11:g.41719610T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1035His	rs773443355	missense variant	-	NC_000013.11:g.41719602C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1038Arg	rs772543333	missense variant	-	NC_000013.11:g.41719594T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Lys1038Glu	COSM3968614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41719595T>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Glu1039Lys	rs1206133448	missense variant	-	NC_000013.11:g.41719592C>T	gnomAD
VWA8	A3KMH1	p.Thr1041Ile	rs1426864483	missense variant	-	NC_000013.11:g.41703406G>A	TOPMed
VWA8	A3KMH1	p.Leu1042Met	COSM6139193	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703404G>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Glu1044Gly	rs767739075	missense variant	-	NC_000013.11:g.41703397T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1045Ter	rs762268695	stop gained	-	NC_000013.11:g.41703395G>A	ExAC
VWA8	A3KMH1	p.Thr1046Met	rs377420908	missense variant	-	NC_000013.11:g.41703391G>A	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Thr1046Met	rs377420908	missense variant	-	NC_000013.11:g.41703391G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe1047Leu	COSM4047645	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703389A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Met1048Ile	rs1174010412	missense variant	-	NC_000013.11:g.41703384C>T	TOPMed
VWA8	A3KMH1	p.Tyr1050Phe	rs1390503342	missense variant	-	NC_000013.11:g.41703379T>A	TOPMed
VWA8	A3KMH1	p.Ile1053Val	rs1394273755	missense variant	-	NC_000013.11:g.41703371T>C	gnomAD
VWA8	A3KMH1	p.Gly1054Asp	rs763058392	missense variant	-	NC_000013.11:g.41703367C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1056Gly	rs1451219519	missense variant	-	NC_000013.11:g.41703361G>C	gnomAD
VWA8	A3KMH1	p.Arg1057Gly	rs1474071136	missense variant	-	NC_000013.11:g.41703359T>C	gnomAD
VWA8	A3KMH1	p.Arg1057Ser	rs1382302352	missense variant	-	NC_000013.11:g.41703357T>G	TOPMed
VWA8	A3KMH1	p.Ser1058Asn	rs775710157	missense variant	-	NC_000013.11:g.41703355C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1058Arg	COSM4841290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703356T>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly1059Glu	rs369712023	missense variant	-	NC_000013.11:g.41703352C>T	ESP,TOPMed
VWA8	A3KMH1	p.Gly1059Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41703352C>A	NCI-TCGA
VWA8	A3KMH1	p.Met1060Leu	rs1388300878	missense variant	-	NC_000013.11:g.41703350T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Met1060Ile	rs377037712	missense variant	-	NC_000013.11:g.41703348C>T	ESP
VWA8	A3KMH1	p.Gln1061Pro	rs372140357	missense variant	-	NC_000013.11:g.41703346T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1062Asn	rs1486432994	missense variant	-	NC_000013.11:g.41703342T>G	gnomAD
VWA8	A3KMH1	p.Leu1063Phe	rs961006033	missense variant	-	NC_000013.11:g.41703341G>A	TOPMed
VWA8	A3KMH1	p.Leu1064Val	COSM3813831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703338A>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Cys1065Ser	rs746899659	missense variant	-	NC_000013.11:g.41703334C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1068Gly	COSM3468937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41703325T>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Thr1069Ala	rs201540448	missense variant	-	NC_000013.11:g.41703323T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1069Ser	rs1257748217	missense variant	-	NC_000013.11:g.41703322G>C	gnomAD
VWA8	A3KMH1	p.His1070Arg	rs1261756238	missense variant	-	NC_000013.11:g.41703319T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.His1070Leu	rs1261756238	missense variant	-	NC_000013.11:g.41703319T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.His1071Arg	rs1333079923	missense variant	-	NC_000013.11:g.41703316T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1072Leu	rs1211721918	missense variant	-	NC_000013.11:g.41703314T>A	TOPMed
VWA8	A3KMH1	p.Asp1073Gly	rs747963865	missense variant	-	NC_000013.11:g.41703310T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1074Arg	rs1357582768	missense variant	-	NC_000013.11:g.41703307A>C	gnomAD
VWA8	A3KMH1	p.Lys1075Asn	rs1480082514	missense variant	-	NC_000013.11:g.41703303C>A	TOPMed
VWA8	A3KMH1	p.Gly1076Ser	rs1184420228	missense variant	-	NC_000013.11:g.41701530C>T	TOPMed
VWA8	A3KMH1	p.Gly1076Asp	rs890317415	missense variant	-	NC_000013.11:g.41701529C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1077Arg	rs1271364396	missense variant	-	NC_000013.11:g.41701526G>C	gnomAD
VWA8	A3KMH1	p.AlaLeuIleAsnIle1078AlaLeuIleAsnAsnLeuTerIleUnk	rs1232180399	stop gained	-	NC_000013.11:g.41701512_41701522dup	gnomAD
VWA8	A3KMH1	p.Ala1078Ser	COSM947484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41701524C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Leu1079Phe	rs1439255284	missense variant	-	NC_000013.11:g.41701521G>A	TOPMed
VWA8	A3KMH1	p.Ile1080Leu	rs745396588	missense variant	-	NC_000013.11:g.41701518T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asn1081His	rs781484442	missense variant	-	NC_000013.11:g.41701515T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1082Val	rs757833754	missense variant	-	NC_000013.11:g.41701512T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1082Met	rs371683248	missense variant	-	NC_000013.11:g.41701510T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1083His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41701507C>A	NCI-TCGA
VWA8	A3KMH1	p.Gln1083Arg	rs764532290	missense variant	-	NC_000013.11:g.41701508T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1084Asp	rs752822645	missense variant	-	NC_000013.11:g.41701504C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1085PheTerIleThrTyrAsnCysTyr	rs772529673	stop gained	-	NC_000013.11:g.41701503_41701504insGCAATTATATGTAATTTAGAA	ExAC
VWA8	A3KMH1	p.Ile1087Lys	rs776780603	missense variant	-	NC_000013.11:g.41701496A>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1087Thr	rs776780603	missense variant	-	NC_000013.11:g.41701496A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1089Ser	rs1410371662	missense variant	-	NC_000013.11:g.41701489T>A	gnomAD
VWA8	A3KMH1	p.His1090Arg	rs553184947	missense variant	-	NC_000013.11:g.41701487T>C	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Arg1093Ser	rs368678305	missense variant	-	NC_000013.11:g.41701477T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1094Pro	rs1433484901	missense variant	-	NC_000013.11:g.41701476A>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1094Cys	rs774308810	missense variant	-	NC_000013.11:g.41701475G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1094Thr	rs1433484901	missense variant	-	NC_000013.11:g.41701476A>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1094Tyr	rs774308810	missense variant	-	NC_000013.11:g.41701475G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1095Pro	rs1444064042	missense variant	-	NC_000013.11:g.41701472A>G	TOPMed
VWA8	A3KMH1	p.Asn1096Lys	rs756047468	missense variant	-	NC_000013.11:g.41701468G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1099Lys	rs1181525281	missense variant	-	NC_000013.11:g.41701461C>T	gnomAD
VWA8	A3KMH1	p.Glu1100Gly	rs769491022	missense variant	-	NC_000013.11:g.41701457T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1102Val	rs1382944301	missense variant	-	NC_000013.11:g.41701451G>A	TOPMed
VWA8	A3KMH1	p.Ser1103Leu	rs745573452	missense variant	-	NC_000013.11:g.41701448G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Trp1104Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41701445C>T	NCI-TCGA
VWA8	A3KMH1	p.Glu1110Ter	rs1247269210	stop gained	-	NC_000013.11:g.41701428C>A	-
VWA8	A3KMH1	p.Glu1110Ter	rs1247269210	stop gained	-	NC_000013.11:g.41701428C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile1111Met	rs993501221	missense variant	-	NC_000013.11:g.41701423A>C	TOPMed
VWA8	A3KMH1	p.Ile1113Val	rs368430981	missense variant	-	NC_000013.11:g.41701419T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1113Met	rs1442656107	missense variant	-	NC_000013.11:g.41701417T>C	gnomAD
VWA8	A3KMH1	p.Ile1114Met	rs778456029	missense variant	-	NC_000013.11:g.41701414G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys1115Gly	rs1308386085	missense variant	-	NC_000013.11:g.41701413A>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Cys1115Gly	rs1308386085	missense variant	-	NC_000013.11:g.41701413A>C	gnomAD
VWA8	A3KMH1	p.Ile1117Thr	rs374224916	missense variant	-	NC_000013.11:g.41701406A>G	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Asn1123Lys	rs1368165741	missense variant	-	NC_000013.11:g.41699266A>T	TOPMed
VWA8	A3KMH1	p.Thr1127Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41699256T>C	NCI-TCGA
VWA8	A3KMH1	p.Tyr1129Cys	rs200921260	missense variant	-	NC_000013.11:g.41699249T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1132Pro	rs1369718601	missense variant	-	NC_000013.11:g.41699241T>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Asn1134Tyr	rs780272704	missense variant	-	NC_000013.11:g.41699235T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1135His	rs1360609569	missense variant	-	NC_000013.11:g.41699231G>T	gnomAD
VWA8	A3KMH1	p.Pro1135Ser	rs1212468778	missense variant	-	NC_000013.11:g.41699232G>A	gnomAD
VWA8	A3KMH1	p.Ala1136Ser	rs767649983	missense variant	-	NC_000013.11:g.41699229C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1136Thr	rs767649983	missense variant	-	NC_000013.11:g.41699229C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1137Tyr	rs1324547700	missense variant	-	NC_000013.11:g.41699225G>T	gnomAD
VWA8	A3KMH1	p.Tyr1139His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41699220A>G	NCI-TCGA
VWA8	A3KMH1	p.Met1141Ile	rs762933120	missense variant	-	NC_000013.11:g.41699212C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asn1142Ser	rs752624412	missense variant	-	NC_000013.11:g.41699210T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Met1143Thr	COSM4047644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41699207A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly1145Trp	rs932852567	missense variant	-	NC_000013.11:g.41699202C>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1145Glu	rs1189282598	missense variant	-	NC_000013.11:g.41699201C>T	gnomAD
VWA8	A3KMH1	p.Gly1148Val	rs759283527	missense variant	-	NC_000013.11:g.41699192C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe1149Val	rs776374124	missense variant	-	NC_000013.11:g.41699190A>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1151Leu	rs76787766	missense variant	-	NC_000013.11:g.41699184C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1151Met	rs76787766	missense variant	-	NC_000013.11:g.41699184C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1151Leu	rs76787766	missense variant	-	NC_000013.11:g.41699184C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1152Val	rs769012795	missense variant	-	NC_000013.11:g.41699180T>A	ExAC
VWA8	A3KMH1	p.Asp1152Glu	rs780179594	missense variant	-	NC_000013.11:g.41699179G>C	ExAC,TOPMed
VWA8	A3KMH1	p.Asp1152His	rs748668867	missense variant	-	NC_000013.11:g.41699181C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1152Gly	rs769012795	missense variant	-	NC_000013.11:g.41699180T>C	ExAC
VWA8	A3KMH1	p.Asp1152Tyr	COSM947482	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41699181C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Phe1153Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41699176A>C	NCI-TCGA
VWA8	A3KMH1	p.Phe1153Leu	rs756323521	missense variant	-	NC_000013.11:g.41699178A>G	ExAC
VWA8	A3KMH1	p.Asp1155Gly	rs746146791	missense variant	-	NC_000013.11:g.41699171T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1156Phe	rs781225564	missense variant	-	NC_000013.11:g.41699169T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Phe1157Ile	rs961107950	missense variant	-	NC_000013.11:g.41699166A>T	TOPMed
VWA8	A3KMH1	p.Pro1158Ser	rs1301802937	missense variant	-	NC_000013.11:g.41699163G>A	gnomAD
VWA8	A3KMH1	p.Thr1160Pro	rs757322905	missense variant	-	NC_000013.11:g.41699157T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1161Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41699154C>T	NCI-TCGA
VWA8	A3KMH1	p.Asn1162Ser	rs1336908295	missense variant	-	NC_000013.11:g.41699150T>C	TOPMed
VWA8	A3KMH1	p.Gly1163Asp	rs983790533	missense variant	-	NC_000013.11:g.41699147C>T	TOPMed
VWA8	A3KMH1	p.Val1164Ile	rs754745859	missense variant	-	NC_000013.11:g.41699145C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Trp1165Ter	rs766348152	stop gained	-	NC_000013.11:g.41699140C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Trp1165Cys	rs766348152	missense variant	-	NC_000013.11:g.41699140C>A	ExAC,gnomAD
VWA8	A3KMH1	p.His1166Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41699139G>A	NCI-TCGA
VWA8	A3KMH1	p.His1166Gln	rs760393141	missense variant	-	NC_000013.11:g.41699137G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1167Thr	rs767010894	missense variant	-	NC_000013.11:g.41699136G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1167Ser	rs767010894	missense variant	-	NC_000013.11:g.41699136G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1167Ala	rs767010894	missense variant	-	NC_000013.11:g.41699136G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe1168Ser	rs1192890831	missense variant	-	NC_000013.11:g.41699132A>G	gnomAD
VWA8	A3KMH1	p.Phe1168Ile	rs1200645968	missense variant	-	NC_000013.11:g.41699133A>T	TOPMed
VWA8	A3KMH1	p.Thr1170Pro	rs373695860	missense variant	-	NC_000013.11:g.41699127T>G	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Ala1172Thr	rs1175251918	missense variant	-	NC_000013.11:g.41699121C>T	gnomAD
VWA8	A3KMH1	p.Pro1173Leu	rs199643337	missense variant	-	NC_000013.11:g.41699117G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1175Glu	rs775819103	missense variant	-	NC_000013.11:g.41699111C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1176Arg	rs1007788671	missense variant	-	NC_000013.11:g.41699107A>T	gnomAD
VWA8	A3KMH1	p.Ser1176Asn	rs1231581938	missense variant	-	NC_000013.11:g.41699108C>T	gnomAD
VWA8	A3KMH1	p.Leu1178Phe	rs1313284220	missense variant	-	NC_000013.11:g.41699103G>A	gnomAD
VWA8	A3KMH1	p.Lys1179Glu	rs374019508	missense variant	-	NC_000013.11:g.41699100T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1180Val	rs1373075131	missense variant	-	NC_000013.11:g.41699096C>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1181Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41699094G>C	NCI-TCGA
VWA8	A3KMH1	p.His1185Arg	rs371185408	missense variant	-	NC_000013.11:g.41699081T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.His1185Pro	rs371185408	missense variant	-	NC_000013.11:g.41699081T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1187Glu	rs1466663602	missense variant	-	NC_000013.11:g.41699076G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1187Pro	rs531668890	missense variant	-	NC_000013.11:g.41699075T>G	TOPMed
VWA8	A3KMH1	p.Gln1188Ter	rs778843925	stop gained	-	NC_000013.11:g.41699073G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1189Gly	rs777705771	missense variant	-	NC_000013.11:g.41692972T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asn1190Asp	rs1283756067	missense variant	-	NC_000013.11:g.41692969T>C	gnomAD
VWA8	A3KMH1	p.Asn1190Ser	rs374051267	missense variant	-	NC_000013.11:g.41692968T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1191ValTerLeuTyrThrTyrLeuTrpLeuTyrUnk	rs752106722	stop gained	-	NC_000013.11:g.41692964_41692965insTATATAACCATAGATATGTGTATAATTAA	ExAC
VWA8	A3KMH1	p.Val1191Leu	rs1342300220	missense variant	-	NC_000013.11:g.41692966C>G	gnomAD
VWA8	A3KMH1	p.Leu1194Ser	rs180726553	missense variant	-	NC_000013.11:g.41692956A>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1196His	rs750185690	missense variant	-	NC_000013.11:g.41692951C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1196Tyr	COSM947480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41692951C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Thr1197Ala	rs574765979	missense variant	-	NC_000013.11:g.41692948T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1197Asn	rs756845704	missense variant	-	NC_000013.11:g.41692947G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1198Ile	rs751273853	missense variant	-	NC_000013.11:g.41692944G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Thr1198Ala	rs1234683160	missense variant	-	NC_000013.11:g.41692945T>C	TOPMed
VWA8	A3KMH1	p.Arg1200Gln	rs369285520	missense variant	-	NC_000013.11:g.41692938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1200Gly	rs150345391	missense variant	-	NC_000013.11:g.41692939G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1200Trp	rs150345391	missense variant	-	NC_000013.11:g.41692939G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1201Thr	rs753154954	missense variant	-	NC_000013.11:g.41692936C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1201Ser	rs753154954	missense variant	-	NC_000013.11:g.41692936C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1201Val	rs61733775	missense variant	-	NC_000013.11:g.41692935G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1202Ile	rs776856043	missense variant	-	NC_000013.11:g.41692933G>T	ExAC,gnomAD
VWA8	A3KMH1	p.His1203Arg	rs771388715	missense variant	-	NC_000013.11:g.41692929T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1204Leu	rs368531097	missense variant	-	NC_000013.11:g.41692926C>A	ESP,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1204Gly	rs372315714	missense variant	-	NC_000013.11:g.41692927G>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1204His	rs368531097	missense variant	-	NC_000013.11:g.41692926C>T	ESP,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1204Cys	rs372315714	missense variant	-	NC_000013.11:g.41692927G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1205Val	rs1227672887	missense variant	-	NC_000013.11:g.41692924G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1206Met	rs748249125	missense variant	-	NC_000013.11:g.41692919G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1206Val	rs772241657	missense variant	-	NC_000013.11:g.41692921T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Leu1207Phe	rs780068099	missense variant	-	NC_000013.11:g.41692918G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1208Ala	rs571920760	missense variant	-	NC_000013.11:g.41692915G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1208Ser	rs571920760	missense variant	-	NC_000013.11:g.41692915G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1208Thr	rs571920760	missense variant	-	NC_000013.11:g.41692915G>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1210Lys	rs745872533	missense variant	-	NC_000013.11:g.41692909C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Lys1211Ter	COSM3813827	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41692906T>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ser1214Cys	rs1429761127	missense variant	-	NC_000013.11:g.41692896G>C	gnomAD
VWA8	A3KMH1	p.Lys1216Asn	rs1391502476	missense variant	-	NC_000013.11:g.41692889T>A	gnomAD
VWA8	A3KMH1	p.Pro1217Thr	rs757115134	missense variant	-	NC_000013.11:g.41692888G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Trp1220Ter	rs891838818	stop gained	-	NC_000013.11:g.41692878C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Asn1221Ser	rs1246687985	missense variant	-	NC_000013.11:g.41692875T>C	gnomAD
VWA8	A3KMH1	p.Glu1224Ala	rs751131106	missense variant	-	NC_000013.11:g.41692866T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr1228Ter	rs370449841	stop gained	-	NC_000013.11:g.41691930A>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.TyrLys1228Ter	rs1279164904	stop gained	-	NC_000013.11:g.41691931_41691932del	gnomAD
VWA8	A3KMH1	p.Met1230Ile	rs1348223712	missense variant	-	NC_000013.11:g.41691924C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Met1230Thr	rs770582729	missense variant	-	NC_000013.11:g.41691925A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys1231Arg	rs986243594	missense variant	-	NC_000013.11:g.41691923A>G	gnomAD
VWA8	A3KMH1	p.Lys1232Glu	rs201345402	missense variant	-	NC_000013.11:g.41691920T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1233Ter	rs1351934910	stop gained	-	NC_000013.11:g.41691917C>A	gnomAD
VWA8	A3KMH1	p.Glu1233Asp	rs777340047	missense variant	-	NC_000013.11:g.41691915T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Phe1234Tyr	rs1276823810	missense variant	-	NC_000013.11:g.41691913A>T	TOPMed
VWA8	A3KMH1	p.Phe1234Leu	rs1218616495	missense variant	-	NC_000013.11:g.41691914A>G	TOPMed
VWA8	A3KMH1	p.Val1241Gly	rs747857238	missense variant	-	NC_000013.11:g.41691892A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Phe1242Val	rs374735365	missense variant	-	NC_000013.11:g.41691890A>C	ESP
VWA8	A3KMH1	p.Lys1244Arg	rs754559781	missense variant	-	NC_000013.11:g.41691883T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1244Glu	rs542801926	missense variant	-	NC_000013.11:g.41691884T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1246Asn	rs371316163	missense variant	-	NC_000013.11:g.41691876T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1247Trp	rs1158879098	missense variant	-	NC_000013.11:g.41691875C>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1247Arg	rs1158879098	missense variant	-	NC_000013.11:g.41691875C>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1247Arg	rs1158879098	missense variant	-	NC_000013.11:g.41691875C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1249Ile	rs1391312817	missense variant	-	NC_000013.11:g.41691440C>A	gnomAD
VWA8	A3KMH1	p.Val1252Met	rs748832175	missense variant	-	NC_000013.11:g.41691432C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1254Tyr	rs756628995	missense variant	-	NC_000013.11:g.41691426C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1254His	rs756628995	missense variant	-	NC_000013.11:g.41691426C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1258Glu	rs751013648	missense variant	-	NC_000013.11:g.41691413C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1259Gln	rs375909557	missense variant	-	NC_000013.11:g.41691410C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1259Gly	rs1189167901	missense variant	-	NC_000013.11:g.41691411G>C	gnomAD
VWA8	A3KMH1	p.Ile1263Val	rs751782379	missense variant	-	NC_000013.11:g.41691399T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Leu1265Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41691393G>T	NCI-TCGA
VWA8	A3KMH1	p.Pro1266Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41691390G>A	NCI-TCGA
VWA8	A3KMH1	p.Val1272Phe	rs1210717479	missense variant	-	NC_000013.11:g.41691372C>A	gnomAD
VWA8	A3KMH1	p.Asp1278Asn	rs1264755870	missense variant	-	NC_000013.11:g.41691354C>T	TOPMed
VWA8	A3KMH1	p.Asp1278Ala	rs765293499	missense variant	-	NC_000013.11:g.41691353T>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1279Arg	rs1283899393	missense variant	-	NC_000013.11:g.41691350T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Trp1280Ter	rs760584342	stop gained	-	NC_000013.11:g.41691347C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Trp1280Cys	rs773176394	missense variant	-	NC_000013.11:g.41691346C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Trp1280Ter	rs773176394	stop gained	-	NC_000013.11:g.41691346C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1281Phe	rs1178705263	missense variant	-	NC_000013.11:g.41691345G>A	TOPMed
VWA8	A3KMH1	p.Leu1282Pro	rs771816891	missense variant	-	NC_000013.11:g.41691341A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Val1283Ala	rs1350680922	missense variant	-	NC_000013.11:g.41691338A>G	gnomAD
VWA8	A3KMH1	p.Ser1285Gly	rs571896786	missense variant	-	NC_000013.11:g.41691333T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1285Cys	rs571896786	missense variant	-	NC_000013.11:g.41691333T>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1285Asn	rs1389665445	missense variant	-	NC_000013.11:g.41691332C>T	gnomAD
VWA8	A3KMH1	p.Thr1287Lys	rs768346441	missense variant	-	NC_000013.11:g.41691326G>T	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr1291Cys	rs779029050	missense variant	-	NC_000013.11:g.41690270T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr1291Ter	rs564881789	stop gained	-	NC_000013.11:g.41690269A>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1292Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41690268G>T	NCI-TCGA
VWA8	A3KMH1	p.Thr1294Ser	rs1308865837	missense variant	-	NC_000013.11:g.41690261G>C	gnomAD
VWA8	A3KMH1	p.Lys1295Glu	rs1400180041	missense variant	-	NC_000013.11:g.41690259T>C	gnomAD
VWA8	A3KMH1	p.Pro1296Ser	rs1416270328	missense variant	-	NC_000013.11:g.41690256G>A	TOPMed
VWA8	A3KMH1	p.Ala1297Val	rs757160807	missense variant	-	NC_000013.11:g.41690252G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1297Glu	rs757160807	missense variant	-	NC_000013.11:g.41690252G>T	ExAC,gnomAD
VWA8	A3KMH1	p.His1298Arg	rs1299039310	missense variant	-	NC_000013.11:g.41690249T>C	TOPMed
VWA8	A3KMH1	p.Ile1299Ser	rs763906323	missense variant	-	NC_000013.11:g.41690246A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1300Lys	rs2274810	missense variant	-	NC_000013.11:g.41690244C>T	UniProt,dbSNP
VWA8	A3KMH1	p.Glu1300Lys	VAR_049512	missense variant	-	NC_000013.11:g.41690244C>T	UniProt
VWA8	A3KMH1	p.Glu1300Lys	rs2274810	missense variant	-	NC_000013.11:g.41690244C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1300Asp	rs764985944	missense variant	-	NC_000013.11:g.41690242T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1302Gly	rs759327870	missense variant	-	NC_000013.11:g.41690237T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1303Asp	rs747522026	missense variant	-	NC_000013.11:g.41690234C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1303Val	rs747522026	missense variant	-	NC_000013.11:g.41690234C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1303Ala	rs747522026	missense variant	-	NC_000013.11:g.41690234C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1306Phe	rs559628971	missense variant	-	NC_000013.11:g.41690226C>A	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Cys1307Arg	rs772435341	missense variant	-	NC_000013.11:g.41690223A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Gln1308Arg	rs374895334	missense variant	-	NC_000013.11:g.41690219T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1310Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41690213T>G	NCI-TCGA
VWA8	A3KMH1	p.Tyr1310Cys	rs1397295902	missense variant	-	NC_000013.11:g.41690213T>C	gnomAD
VWA8	A3KMH1	p.Lys1313Asn	rs1414144033	missense variant	-	NC_000013.11:g.41690203T>A	TOPMed
VWA8	A3KMH1	p.Pro1316Leu	rs143452573	missense variant	-	NC_000013.11:g.41690195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1316Ser	COSM3468932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41690196G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ser1318Thr	rs1227891317	missense variant	-	NC_000013.11:g.41690189C>G	TOPMed
VWA8	A3KMH1	p.Thr1319LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.41690186G>-	NCI-TCGA
VWA8	A3KMH1	p.Thr1319Ala	rs376308850	missense variant	-	NC_000013.11:g.41690187T>C	ESP,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1319Ile	rs1337100393	missense variant	-	NC_000013.11:g.41690186G>A	TOPMed
VWA8	A3KMH1	p.Gly1320Glu	COSM947479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41690183C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Val1323Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41690174A>G	NCI-TCGA
VWA8	A3KMH1	p.Val1323Gly	rs1381250437	missense variant	-	NC_000013.11:g.41690174A>C	gnomAD
VWA8	A3KMH1	p.Val1323Ile	rs749557051	missense variant	-	NC_000013.11:g.41690175C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1324Lys	rs912818054	missense variant	-	NC_000013.11:g.41690171G>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1325Ter	rs756215161	stop gained	-	NC_000013.11:g.41690169G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1326Lys	rs751463766	missense variant	-	NC_000013.11:g.41690166C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Phe1329Ile	rs1450243876	missense variant	-	NC_000013.11:g.41689500A>T	gnomAD
VWA8	A3KMH1	p.Ser1330Asn	rs1266872069	missense variant	-	NC_000013.11:g.41689496C>T	gnomAD
VWA8	A3KMH1	p.Ile1331Val	rs1210686334	missense variant	-	NC_000013.11:g.41689494T>C	gnomAD
VWA8	A3KMH1	p.Ile1331Thr	rs781399569	missense variant	-	NC_000013.11:g.41689493A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1332Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41689490G>A	NCI-TCGA
VWA8	A3KMH1	p.Pro1332Ser	rs758255400	missense variant	-	NC_000013.11:g.41689491G>A	ExAC,gnomAD
VWA8	A3KMH1	p.His1333Arg	rs1419958974	missense variant	-	NC_000013.11:g.41689487T>C	TOPMed
VWA8	A3KMH1	p.His1333Tyr	COSM6139196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41689488G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys1334Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41689484T>G	NCI-TCGA
VWA8	A3KMH1	p.Asp1338Asn	rs370372362	missense variant	-	NC_000013.11:g.41689473C>T	gnomAD
VWA8	A3KMH1	p.Asp1338Gly	rs1271860403	missense variant	-	NC_000013.11:g.41689472T>C	gnomAD
VWA8	A3KMH1	p.Glu1343Gly	rs1330320897	missense variant	-	NC_000013.11:g.41689457T>C	gnomAD
VWA8	A3KMH1	p.Glu1343Ter	rs1342766593	stop gained	-	NC_000013.11:g.41689458C>A	gnomAD
VWA8	A3KMH1	p.His1344Tyr	rs1034274905	missense variant	-	NC_000013.11:g.41689455G>A	gnomAD
VWA8	A3KMH1	p.Ala1348Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41689442G>T	NCI-TCGA
VWA8	A3KMH1	p.Ala1348Pro	rs1368375464	missense variant	-	NC_000013.11:g.41689443C>G	gnomAD
VWA8	A3KMH1	p.Val1349Gly	rs374200934	missense variant	-	NC_000013.11:g.41689439A>C	ESP,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1349Met	rs1434829634	missense variant	-	NC_000013.11:g.41689440C>T	TOPMed
VWA8	A3KMH1	p.Gln1351Arg	rs766146753	missense variant	-	NC_000013.11:g.41689433T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1351Glu	rs753494143	missense variant	-	NC_000013.11:g.41689434G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1352Glu	rs1019111306	missense variant	-	NC_000013.11:g.41689431T>C	TOPMed
VWA8	A3KMH1	p.Ile1353Asn	rs749902028	missense variant	-	NC_000013.11:g.41689427A>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1354Ser	rs767099102	missense variant	-	NC_000013.11:g.41689425C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1355Cys	rs1377455752	missense variant	-	NC_000013.11:g.41689421G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Asn1357Ser	rs762191853	missense variant	-	NC_000013.11:g.41689415T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1359Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41689409A>T	NCI-TCGA
VWA8	A3KMH1	p.Leu1360His	rs768957129	missense variant	-	NC_000013.11:g.41689406A>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1361Leu	rs202210279	missense variant	-	NC_000013.11:g.41689403G>A	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Lys1364Glu	rs190685397	missense variant	-	NC_000013.11:g.41689395T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn1365Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41689390A>C	NCI-TCGA
VWA8	A3KMH1	p.Asn1365Ser	rs746158873	missense variant	-	NC_000013.11:g.41689391T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr1366Asp	rs781111359	missense variant	-	NC_000013.11:g.41689389A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1367Val	rs1225182268	missense variant	-	NC_000013.11:g.41689385G>A	gnomAD
VWA8	A3KMH1	p.Ile1369Val	rs370773201	missense variant	-	NC_000013.11:g.41689380T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1369Arg	COSM6074661	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41689379A>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Val1370Ile	rs748060899	missense variant	-	NC_000013.11:g.41689377C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Val1371Ile	rs779018182	missense variant	-	NC_000013.11:g.41689374C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1372Asp	rs1331414796	missense variant	-	NC_000013.11:g.41689370C>T	gnomAD
VWA8	A3KMH1	p.Pro1374Ser	rs200321917	missense variant	-	NC_000013.11:g.41689365G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1377Val	rs753693378	missense variant	-	NC_000013.11:g.41689356T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Met1377Ile	rs1279685434	missense variant	-	NC_000013.11:g.41689354C>T	TOPMed
VWA8	A3KMH1	p.Ser1378Thr	rs770869044	missense variant	-	NC_000013.11:g.41685242A>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1380Thr	rs1468944080	missense variant	-	NC_000013.11:g.41685235C>G	TOPMed
VWA8	A3KMH1	p.Trp1385Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41685219C>A	NCI-TCGA
VWA8	A3KMH1	p.Trp1385Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41685219C>T	NCI-TCGA
VWA8	A3KMH1	p.Lys1386Arg	rs747100636	missense variant	-	NC_000013.11:g.41685217T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1387Lys	rs768713345	missense variant	-	NC_000013.11:g.41685214C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1387Ter	rs979394476	stop gained	-	NC_000013.11:g.41685215T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1388Ser	rs749300296	missense variant	-	NC_000013.11:g.41685212G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Lys1393Arg	rs1382236716	missense variant	-	NC_000013.11:g.41685196T>C	TOPMed
VWA8	A3KMH1	p.Arg1394Leu	rs567169842	missense variant	-	NC_000013.11:g.41685193C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1394Gln	rs567169842	missense variant	-	NC_000013.11:g.41685193C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1394Pro	rs567169842	missense variant	-	NC_000013.11:g.41685193C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1394Ter	rs201613831	stop gained	-	NC_000013.11:g.41685194G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1395Thr	rs1225781871	missense variant	-	NC_000013.11:g.41685190C>G	TOPMed
VWA8	A3KMH1	p.Gly1396Val	rs780907908	missense variant	-	NC_000013.11:g.41685187C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1396Asp	rs780907908	missense variant	-	NC_000013.11:g.41685187C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1397Ala	rs369059134	missense variant	-	NC_000013.11:g.41685185T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1398Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41685181T>C	NCI-TCGA
VWA8	A3KMH1	p.Asp1398His	rs182336666	missense variant	-	NC_000013.11:g.41685182C>G	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Thr1399Lys	rs1347122024	missense variant	-	NC_000013.11:g.41685178G>T	gnomAD
VWA8	A3KMH1	p.Ser1400Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41685175G>C	NCI-TCGA
VWA8	A3KMH1	p.Tyr1402Cys	rs758879710	missense variant	-	NC_000013.11:g.41685169T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1404Arg	rs148225674	missense variant	-	NC_000013.11:g.41685164C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1404Glu	rs373518560	missense variant	-	NC_000013.11:g.41685163C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1406Gln	rs776661352	missense variant	-	NC_000013.11:g.41685158T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1408Lys	rs761047784	missense variant	-	NC_000013.11:g.41685151C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1409Glu	rs773416393	missense variant	-	NC_000013.11:g.41685148C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1412Glu	rs749193925	missense variant	-	NC_000013.11:g.41685140T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asn1415Ser	rs769415597	missense variant	-	NC_000013.11:g.41685130T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1418Ala	rs780913511	missense variant	-	NC_000013.11:g.41685122T>C	ExAC,TOPMed
VWA8	A3KMH1	p.Leu1420Ile	rs746712975	missense variant	-	NC_000013.11:g.41685116A>T	ExAC,gnomAD
VWA8	A3KMH1	p.Thr1422Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41685109G>A	NCI-TCGA
VWA8	A3KMH1	p.Thr1422Ala	rs1297522866	missense variant	-	NC_000013.11:g.41685110T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1424Arg	rs202017651	missense variant	-	NC_000013.11:g.41685103T>C	1000Genomes,ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Val1425Ile	rs371884722	missense variant	-	NC_000013.11:g.41685101C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1426Ala	rs1435990982	missense variant	-	NC_000013.11:g.41685097A>G	gnomAD
VWA8	A3KMH1	p.Arg1427Ser	rs1366482253	missense variant	-	NC_000013.11:g.41685093C>A	gnomAD
VWA8	A3KMH1	p.Leu1429Ter	rs1305019906	stop gained	-	NC_000013.11:g.41685088A>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1430Ser	rs765789141	missense variant	-	NC_000013.11:g.41685086G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1432Glu	rs754229206	missense variant	-	NC_000013.11:g.41685079C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1433Gln	rs766716447	missense variant	-	NC_000013.11:g.41685077C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1435Leu	rs369463458	missense variant	-	NC_000013.11:g.41685070G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1436Gln	rs1202328028	missense variant	-	NC_000013.11:g.41685067A>T	gnomAD
VWA8	A3KMH1	p.Lys1437Thr	rs1404658123	missense variant	-	NC_000013.11:g.41685064T>G	TOPMed
VWA8	A3KMH1	p.Asp1438Gly	rs1274490671	missense variant	-	NC_000013.11:g.41685061T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1438Tyr	COSM947478	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41685062C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asp1438IlePheSerTerUnkUnk	rs748243038	frameshift	-	NC_000013.11:g.41685063T>-	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile1439Leu	rs78161810	missense variant	-	NC_000013.11:g.41685059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1439Thr	rs761992111	missense variant	-	NC_000013.11:g.41685058A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr1440Phe	rs189748469	missense variant	-	NC_000013.11:g.41685055T>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1440His	rs775235301	missense variant	-	NC_000013.11:g.41685056A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1444Asp	rs372865939	missense variant	-	NC_000013.11:g.41675293A>T	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Thr1445Ile	rs772792902	missense variant	-	NC_000013.11:g.41675290G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1446Leu	rs1365795973	missense variant	-	NC_000013.11:g.41675287G>A	TOPMed
VWA8	A3KMH1	p.Pro1446Ser	rs771698239	missense variant	-	NC_000013.11:g.41675288G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Gln1448Ter	rs1421549226	stop gained	-	NC_000013.11:g.41675282G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1450Cys	COSM75123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41675275G>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly1451Asp	rs778451548	missense variant	-	NC_000013.11:g.41675272C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Tyr1452Asn	rs768097273	missense variant	-	NC_000013.11:g.41675270A>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1452Cys	rs749766901	missense variant	-	NC_000013.11:g.41675269T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1453Thr	rs750806395	missense variant	-	NC_000013.11:g.41675266A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1453Leu	rs41288289	missense variant	-	NC_000013.11:g.41675267T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1453Val	rs41288289	missense variant	-	NC_000013.11:g.41675267T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1457Ala	rs1350218532	missense variant	-	NC_000013.11:g.41675254T>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1457Gly	rs1350218532	missense variant	-	NC_000013.11:g.41675254T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1457Gly	rs1350218532	missense variant	-	NC_000013.11:g.41675254T>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys1461Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41675241C>G	NCI-TCGA
VWA8	A3KMH1	p.Lys1461Glu	rs1241197159	missense variant	-	NC_000013.11:g.41675243T>C	gnomAD
VWA8	A3KMH1	p.Lys1461Asn	COSM947476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41675241C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg1464Gln	rs559089724	missense variant	-	NC_000013.11:g.41675233C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1464Ter	rs757308360	stop gained	-	NC_000013.11:g.41675234G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1464Ter	rs757308360	stop gained	-	NC_000013.11:g.41675234G>A	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Tyr1465Cys	rs1283349836	missense variant	-	NC_000013.11:g.41675230T>C	TOPMed
VWA8	A3KMH1	p.Tyr1465Asn	rs375177854	missense variant	-	NC_000013.11:g.41675231A>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1465Ter	rs370941665	stop gained	-	NC_000013.11:g.41675229A>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1465Ter	rs370941665	stop gained	-	NC_000013.11:g.41675229A>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1466Val	rs762974933	missense variant	-	NC_000013.11:g.41675228T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1467Ser	rs753708487	missense variant	-	NC_000013.11:g.41675225G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1468Val	rs1455897763	missense variant	-	NC_000013.11:g.41675222T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1472Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41671143C>G	NCI-TCGA
VWA8	A3KMH1	p.Glu1472Lys	rs747215747	missense variant	-	NC_000013.11:g.41671143C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1475Leu	rs1490865143	missense variant	-	NC_000013.11:g.41671133G>A	NCI-TCGA
VWA8	A3KMH1	p.Ser1475Leu	rs1490865143	missense variant	-	NC_000013.11:g.41671133G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1475Pro	rs1223234714	missense variant	-	NC_000013.11:g.41671134A>G	gnomAD
VWA8	A3KMH1	p.Pro1476Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41671130G>T	NCI-TCGA
VWA8	A3KMH1	p.Pro1476Leu	rs752758480	missense variant	-	NC_000013.11:g.41671130G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1478Ile	rs1314575319	missense variant	-	NC_000013.11:g.41671124G>A	TOPMed
VWA8	A3KMH1	p.Thr1479Ile	rs750407003	missense variant	-	NC_000013.11:g.41671121G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Thr1479Pro	rs370376270	missense variant	-	NC_000013.11:g.41671122T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Trp1480Ter	rs761539962	stop gained	-	NC_000013.11:g.41671118C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Trp1480Ter	rs1283539205	stop gained	-	NC_000013.11:g.41671117C>T	gnomAD
VWA8	A3KMH1	p.Ser1482Leu	rs774000962	missense variant	-	NC_000013.11:g.41671112G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1483Asn	rs1327652330	missense variant	-	NC_000013.11:g.41671109G>T	gnomAD
VWA8	A3KMH1	p.Ile1484Val	rs762763924	missense variant	-	NC_000013.11:g.41671107T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1492Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41671083C>A	NCI-TCGA
VWA8	A3KMH1	p.Ala1492Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41671083C>T	NCI-TCGA
VWA8	A3KMH1	p.Glu1493Gly	rs769479504	missense variant	-	NC_000013.11:g.41671079T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Trp1494Ter	rs746329626	stop gained	-	NC_000013.11:g.41671075C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1495Asn	rs777308406	missense variant	-	NC_000013.11:g.41671074C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1495Asn	rs777308406	missense variant	-	NC_000013.11:g.41671074C>T	NCI-TCGA
VWA8	A3KMH1	p.Gly1498Asp	rs1181254020	missense variant	-	NC_000013.11:g.41671064C>T	gnomAD
VWA8	A3KMH1	p.Gly1498Ser	rs747347146	missense variant	-	NC_000013.11:g.41671065C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1499Ile	COSM696559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41671062C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Val1500Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41671058A>G	NCI-TCGA
VWA8	A3KMH1	p.Val1500Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41671058A>C	NCI-TCGA
VWA8	A3KMH1	p.Val1500Ile	rs577232520	missense variant	-	NC_000013.11:g.41671059C>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Val1500Phe	rs577232520	missense variant	-	NC_000013.11:g.41671059C>A	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Val1502Leu	rs748407488	missense variant	-	NC_000013.11:g.41671053C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1502Phe	rs748407488	missense variant	-	NC_000013.11:g.41671053C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1504Val	rs1263330582	missense variant	-	NC_000013.11:g.41671047T>C	gnomAD
VWA8	A3KMH1	p.Gly1506Cys	rs1349072716	missense variant	-	NC_000013.11:g.41671041C>A	TOPMed
VWA8	A3KMH1	p.Ile1508Val	rs1278436373	missense variant	-	NC_000013.11:g.41671035T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1508Phe	rs1278436373	missense variant	-	NC_000013.11:g.41671035T>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1509Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41671032T>C	NCI-TCGA
VWA8	A3KMH1	p.Arg1509Trp	rs200757216	missense variant	-	NC_000013.11:g.41671032T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1510Phe	rs1336802163	missense variant	-	NC_000013.11:g.41671029G>A	gnomAD
VWA8	A3KMH1	p.Trp1511Gly	rs1331476986	missense variant	-	NC_000013.11:g.41671026A>C	gnomAD
VWA8	A3KMH1	p.Arg1517Cys	rs372498736	missense variant	-	NC_000013.11:g.41671008G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1517His	rs762528080	missense variant	-	NC_000013.11:g.41671007C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1517Cys	rs372498736	missense variant	-	NC_000013.11:g.41671008G>A	NCI-TCGA
VWA8	A3KMH1	p.Arg1517His	rs762528080	missense variant	-	NC_000013.11:g.41671007C>T	NCI-TCGA
VWA8	A3KMH1	p.Arg1520Ter	RCV000755130	nonsense	Nonsyndromic cleft lip palate	NC_000013.11:g.41670999G>A	ClinVar
VWA8	A3KMH1	p.Arg1520Gln	rs751311007	missense variant	-	NC_000013.11:g.41670998C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1520Ter	rs370112959	stop gained	-	NC_000013.11:g.41670999G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1520Ter	rs370112959	stop gained	-	NC_000013.11:g.41670999G>A	NCI-TCGA
VWA8	A3KMH1	p.Met1523Val	rs1470559238	missense variant	-	NC_000013.11:g.41670990T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Met1523Lys	rs763992144	missense variant	-	NC_000013.11:g.41670989A>T	ExAC,gnomAD
VWA8	A3KMH1	p.Trp1525Arg	rs375522079	missense variant	-	NC_000013.11:g.41670984A>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1530Arg	rs775305708	missense variant	-	NC_000013.11:g.41670969C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1531Ter	rs764801777	stop gained	-	NC_000013.11:g.41670966G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1533Gly	rs1283125415	missense variant	-	NC_000013.11:g.41670959T>C	gnomAD
VWA8	A3KMH1	p.Met1536Ile	rs1349206243	missense variant	-	NC_000013.11:g.41670949C>T	TOPMed
VWA8	A3KMH1	p.Met1536Val	rs771328858	missense variant	-	NC_000013.11:g.41670951T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1538Met	rs1316363383	missense variant	-	NC_000013.11:g.41615082T>C	gnomAD
VWA8	A3KMH1	p.Ile1540Val	rs1325275096	missense variant	-	NC_000013.11:g.41615078T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1544Asn	rs765953140	missense variant	-	NC_000013.11:g.41615065C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1544Thr	COSM3688717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41615065C>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly1545Cys	rs1360346354	missense variant	-	NC_000013.11:g.41615063C>A	gnomAD
VWA8	A3KMH1	p.Asp1547Glu	rs761061482	missense variant	-	NC_000013.11:g.41615055A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1547Gly	rs1431728072	missense variant	-	NC_000013.11:g.41615056T>C	gnomAD
VWA8	A3KMH1	p.Val1548Ala	rs1435980736	missense variant	-	NC_000013.11:g.41615053A>G	gnomAD
VWA8	A3KMH1	p.Ser1549Thr	rs762166688	missense variant	-	NC_000013.11:g.41615050C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1549Ile	rs762166688	missense variant	-	NC_000013.11:g.41615050C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1550Phe	COSM3468928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41615047G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys1552Ile	rs749567457	missense variant	-	NC_000013.11:g.41615041T>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1552Arg	rs749567457	missense variant	-	NC_000013.11:g.41615041T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.His1553Arg	rs769939843	missense variant	-	NC_000013.11:g.41615038T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1554Trp	rs190408463	missense variant	-	NC_000013.11:g.41615036C>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1554Arg	rs190408463	missense variant	-	NC_000013.11:g.41615036C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1555Glu	rs1476829744	missense variant	-	NC_000013.11:g.41615033T>C	TOPMed
VWA8	A3KMH1	p.Lys1555Arg	rs752525858	missense variant	-	NC_000013.11:g.41615032T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1556Asp	rs778917919	missense variant	-	NC_000013.11:g.41615028C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1557Ala	rs754645120	missense variant	-	NC_000013.11:g.41615026T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1559Gly	rs753574391	missense variant	-	NC_000013.11:g.41615020T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn1560Ser	rs765754983	missense variant	-	NC_000013.11:g.41615017T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1561Val	rs1306315689	missense variant	-	NC_000013.11:g.41615015T>C	gnomAD
VWA8	A3KMH1	p.His1563Asp	rs1156646058	missense variant	-	NC_000013.11:g.41615009G>C	TOPMed
VWA8	A3KMH1	p.Val1564Met	rs73464952	missense variant	-	NC_000013.11:g.41615006C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1564Leu	rs73464952	missense variant	-	NC_000013.11:g.41615006C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1564Ala	rs924161830	missense variant	-	NC_000013.11:g.41615005A>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Val1564Leu	RCV000755129	missense variant	Nonsyndromic cleft lip palate	NC_000013.11:g.41615006C>G	ClinVar
VWA8	A3KMH1	p.Gly1565Asp	rs762377355	missense variant	-	NC_000013.11:g.41615002C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1566Val	rs1238383458	missense variant	-	NC_000013.11:g.41614999C>A	TOPMed
VWA8	A3KMH1	p.Gly1566Ser	rs201234564	missense variant	-	NC_000013.11:g.41615000C>T	TOPMed
VWA8	A3KMH1	p.Gly1566Ser	rs201234564	missense variant	-	NC_000013.11:g.41615000C>T	NCI-TCGA
VWA8	A3KMH1	p.Asn1567Thr	rs1305078110	missense variant	-	NC_000013.11:g.41614996T>G	gnomAD
VWA8	A3KMH1	p.Trp1569Ter	rs968315282	stop gained	-	NC_000013.11:g.41614989C>T	TOPMed
VWA8	A3KMH1	p.Trp1569Arg	rs763038461	missense variant	-	NC_000013.11:g.41614991A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1570Val	rs769696371	missense variant	-	NC_000013.11:g.41614987G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1570Thr	rs775815414	missense variant	-	NC_000013.11:g.41614988C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1572Ala	rs1480580762	missense variant	-	NC_000013.11:g.41614981C>G	gnomAD
VWA8	A3KMH1	p.Gly1572Arg	rs756577838	missense variant	-	NC_000013.11:g.41614982C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1572Arg	rs756577838	missense variant	-	NC_000013.11:g.41614982C>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1572Glu	COSM3793291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41614981C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly1574Glu	rs201318560	missense variant	-	NC_000013.11:g.41611732C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1574Ala	rs201318560	missense variant	-	NC_000013.11:g.41611732C>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1574Arg	COSM3468927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41614976C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly1575Ter	rs764403148	stop gained	-	NC_000013.11:g.41611730C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1575Glu	rs1486023707	missense variant	-	NC_000013.11:g.41611729C>T	TOPMed
VWA8	A3KMH1	p.Gly1575GluPheSerTerUnkUnk	COSM1366914	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41611729C>-	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg1576Gly	rs1394457941	missense variant	-	NC_000013.11:g.41611727T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1576Lys	rs763382129	missense variant	-	NC_000013.11:g.41611726C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1577Asn	rs775517679	missense variant	-	NC_000013.11:g.41611724C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Thr1578Lys	rs371253730	missense variant	-	NC_000013.11:g.41611720G>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1578Met	rs371253730	missense variant	-	NC_000013.11:g.41611720G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1579Gly	COSM3987405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41611717G>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ala1579Thr	rs1174131708	missense variant	-	NC_000013.11:g.41611718C>T	TOPMed
VWA8	A3KMH1	p.Gly1582Asp	rs1346001028	missense variant	-	NC_000013.11:g.41611708C>T	TOPMed
VWA8	A3KMH1	p.Gly1582Ser	rs774458741	missense variant	-	NC_000013.11:g.41611709C>T	NCI-TCGA
VWA8	A3KMH1	p.Gly1582Ser	rs774458741	missense variant	-	NC_000013.11:g.41611709C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1582Cys	rs774458741	missense variant	-	NC_000013.11:g.41611709C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1583Asp	rs566787660	missense variant	-	NC_000013.11:g.41611705C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1583Val	rs566787660	missense variant	-	NC_000013.11:g.41611705C>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1586Asp	rs1364854976	missense variant	-	NC_000013.11:g.41611696C>T	TOPMed
VWA8	A3KMH1	p.Gly1586Arg	rs1318924232	missense variant	-	NC_000013.11:g.41611697C>G	TOPMed
VWA8	A3KMH1	p.Tyr1588His	rs779768418	missense variant	-	NC_000013.11:g.41611691A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1589Gln	rs1380564686	missense variant	-	NC_000013.11:g.41611687C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg1589Trp	rs367688672	missense variant	-	NC_000013.11:g.41611688G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1589Gln	rs1380564686	missense variant	-	NC_000013.11:g.41611687C>T	gnomAD
VWA8	A3KMH1	p.Leu1590Gln	rs1343506468	missense variant	-	NC_000013.11:g.41611684A>T	TOPMed
VWA8	A3KMH1	p.Ala1592Thr	rs745573194	missense variant	-	NC_000013.11:g.41611679C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1593Ser	rs780634410	missense variant	-	NC_000013.11:g.41611676C>T	ExAC,gnomAD
VWA8	A3KMH1	p.His1594Tyr	rs751999192	missense variant	-	NC_000013.11:g.41611673G>A	ExAC,gnomAD
VWA8	A3KMH1	p.His1594Leu	rs1363845266	missense variant	-	NC_000013.11:g.41611672T>A	gnomAD
VWA8	A3KMH1	p.Thr1595Met	rs764674854	missense variant	-	NC_000013.11:g.41611669G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1596Leu	rs1245840635	missense variant	-	NC_000013.11:g.41611667C>A	TOPMed
VWA8	A3KMH1	p.Gln1598Ter	rs1383927740	stop gained	-	NC_000013.11:g.41611661G>A	gnomAD
VWA8	A3KMH1	p.Gln1598Leu	rs1183305310	missense variant	-	NC_000013.11:g.41611660T>A	gnomAD
VWA8	A3KMH1	p.Gln1598His	rs1462060201	missense variant	-	NC_000013.11:g.41611659C>G	gnomAD
VWA8	A3KMH1	p.Val1599Ala	rs753100900	missense variant	-	NC_000013.11:g.41611657A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1602Ser	rs371271175	missense variant	-	NC_000013.11:g.41611649C>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1602Thr	rs371271175	missense variant	-	NC_000013.11:g.41611649C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1605His	rs759779447	missense variant	-	NC_000013.11:g.41611640C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1605Asn	rs759779447	missense variant	-	NC_000013.11:g.41611640C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1606Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41611637C>T	NCI-TCGA
VWA8	A3KMH1	p.Glu1609Lys	rs770225079	missense variant	-	NC_000013.11:g.41611628C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1611Phe	rs760838830	missense variant	-	NC_000013.11:g.41611622C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Val1611Ala	rs774368910	missense variant	-	NC_000013.11:g.41611621A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1611Gly	rs774368910	missense variant	-	NC_000013.11:g.41611621A>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1613Ile	rs200944707	missense variant	-	NC_000013.11:g.41611615C>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1616Thr	rs769501655	missense variant	-	NC_000013.11:g.41611606C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1617Lys	rs745484664	missense variant	-	NC_000013.11:g.41611604C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1618Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41611600A>G	NCI-TCGA
VWA8	A3KMH1	p.Arg1621Gly	rs780828541	missense variant	-	NC_000013.11:g.41611592T>C	ExAC
VWA8	A3KMH1	p.Ala1622Thr	rs746508858	missense variant	-	NC_000013.11:g.41611589C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1622Pro	rs746508858	missense variant	-	NC_000013.11:g.41611589C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Phe1623Leu	rs913493645	missense variant	-	NC_000013.11:g.41611584G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1624Ter	COSM3885340	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.41611583G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg1626Lys	rs1163538197	missense variant	-	NC_000013.11:g.41611576C>T	gnomAD
VWA8	A3KMH1	p.Leu1627Arg	rs1221281894	missense variant	-	NC_000013.11:g.41605274A>C	gnomAD
VWA8	A3KMH1	p.Glu1629Gly	rs755332977	missense variant	-	NC_000013.11:g.41605268T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1629Gln	rs1309528940	missense variant	-	NC_000013.11:g.41605269C>G	TOPMed
VWA8	A3KMH1	p.Met1632Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41605258C>T	NCI-TCGA
VWA8	A3KMH1	p.Met1632Ile	rs1327463407	missense variant	-	NC_000013.11:g.41605258C>A	gnomAD
VWA8	A3KMH1	p.Ser1633Asn	rs1391141015	missense variant	-	NC_000013.11:g.41605256C>T	gnomAD
VWA8	A3KMH1	p.Glu1634Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41605254C>T	NCI-TCGA
VWA8	A3KMH1	p.Glu1634Asp	rs1236449294	missense variant	-	NC_000013.11:g.41605252T>G	TOPMed
VWA8	A3KMH1	p.Asp1636Asn	rs780628817	missense variant	-	NC_000013.11:g.41605248C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1636Asn	rs780628817	missense variant	-	NC_000013.11:g.41605248C>T	NCI-TCGA
VWA8	A3KMH1	p.Ala1637Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41605244G>T	NCI-TCGA
VWA8	A3KMH1	p.Ala1637Ser	rs750635115	missense variant	-	NC_000013.11:g.41605245C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1637Thr	rs750635115	missense variant	-	NC_000013.11:g.41605245C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1637Val	COSM4047643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41605244G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Glu1641Lys	rs767599471	missense variant	-	NC_000013.11:g.41605233C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1642Gly	rs752623040	missense variant	-	NC_000013.11:g.41605230T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1642Lys	rs765146030	missense variant	-	NC_000013.11:g.41605229C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Phe1643Leu	rs573822383	missense variant	-	NC_000013.11:g.41605227A>G	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Gly1645Ala	rs776380710	missense variant	-	NC_000013.11:g.41605220C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1645Asp	rs776380710	missense variant	-	NC_000013.11:g.41605220C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1648Trp	rs371195340	missense variant	-	NC_000013.11:g.41605212G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1648Gln	rs377664944	missense variant	-	NC_000013.11:g.41605211C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1648Trp	rs371195340	missense variant	-	NC_000013.11:g.41605212G>A	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg1649Gln	rs747621250	missense variant	-	NC_000013.11:g.41605208C>T	NCI-TCGA
VWA8	A3KMH1	p.Arg1649Gln	rs747621250	missense variant	-	NC_000013.11:g.41605208C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1649Ter	rs183412730	stop gained	-	NC_000013.11:g.41605209G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1650Leu	rs544413664	missense variant	-	NC_000013.11:g.41605205T>A	NCI-TCGA
VWA8	A3KMH1	p.Gln1650Leu	rs544413664	missense variant	-	NC_000013.11:g.41605205T>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1651Gly	rs1459816239	missense variant	-	NC_000013.11:g.41605202A>C	TOPMed
VWA8	A3KMH1	p.His1652Tyr	rs1378371383	missense variant	-	NC_000013.11:g.41605200G>A	gnomAD
VWA8	A3KMH1	p.Leu1654Val	rs769279344	missense variant	-	NC_000013.11:g.41605194G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1655Ter	rs374044514	stop gained	-	NC_000013.11:g.41605191G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1655Gln	rs756581327	missense variant	-	NC_000013.11:g.41605190C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1655Leu	COSM6139197	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41605190C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Ile1656Leu	rs746039683	missense variant	-	NC_000013.11:g.41605188T>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1658Pro	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41605181A>G	NCI-TCGA
VWA8	A3KMH1	p.Asp1659Gly	rs1424007404	missense variant	-	NC_000013.11:g.41605178T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Asn1660Lys	rs1470469142	missense variant	-	NC_000013.11:g.41605174A>C	gnomAD
VWA8	A3KMH1	p.Asn1660Asp	rs1158126857	missense variant	-	NC_000013.11:g.41605176T>C	gnomAD
VWA8	A3KMH1	p.Gln1662His	rs751589386	missense variant	-	NC_000013.11:g.41605168C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Gln1662Ter	rs757558909	stop gained	-	NC_000013.11:g.41605170G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Lys1664Glu	rs1241165360	missense variant	-	NC_000013.11:g.41590762T>C	gnomAD
VWA8	A3KMH1	p.Lys1664Arg	rs1193204600	missense variant	-	NC_000013.11:g.41590761T>C	gnomAD
VWA8	A3KMH1	p.Gly1665Ser	rs770228498	missense variant	-	NC_000013.11:g.41590759C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1665Arg	rs770228498	missense variant	-	NC_000013.11:g.41590759C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1667Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41590753C>T	NCI-TCGA
VWA8	A3KMH1	p.Glu1667Gly	rs746206549	missense variant	-	NC_000013.11:g.41590752T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1668Ter	rs1377904432	stop gained	-	NC_000013.11:g.41590750T>A	TOPMed
VWA8	A3KMH1	p.Arg1668Ile	rs1382432899	missense variant	-	NC_000013.11:g.41590749C>A	TOPMed
VWA8	A3KMH1	p.Trp1670Ter	rs781669054	stop gained	-	NC_000013.11:g.41590743C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1672Lys	rs757392433	missense variant	-	NC_000013.11:g.41590737C>T	ExAC,gnomAD
VWA8	A3KMH1	p.His1673Arg	rs1341513042	missense variant	-	NC_000013.11:g.41590734T>C	TOPMed,gnomAD
VWA8	A3KMH1	p.His1673Tyr	rs1291031563	missense variant	-	NC_000013.11:g.41590735G>A	gnomAD
VWA8	A3KMH1	p.His1673Pro	rs1341513042	missense variant	-	NC_000013.11:g.41590734T>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1674Ter	rs777780749	stop gained	-	NC_000013.11:g.41590732G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Gln1674Pro	rs1269850919	missense variant	-	NC_000013.11:g.41590731T>G	gnomAD
VWA8	A3KMH1	p.Gly1677Arg	rs375789767	missense variant	-	NC_000013.11:g.41590723C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1678Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.41590720C>A	NCI-TCGA
VWA8	A3KMH1	p.Leu1679Val	COSM947470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41590717A>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Lys1683Asn	rs1350468991	missense variant	-	NC_000013.11:g.41590703C>G	gnomAD
VWA8	A3KMH1	p.Asp1686Tyr	rs1408016082	missense variant	-	NC_000013.11:g.41590696C>A	gnomAD
VWA8	A3KMH1	p.Glu1691Lys	rs1478625384	missense variant	-	NC_000013.11:g.41590681C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1691Val	rs767383104	missense variant	-	NC_000013.11:g.41590680T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Lys1692Glu	rs1255486515	missense variant	-	NC_000013.11:g.41590678T>C	TOPMed
VWA8	A3KMH1	p.Ile1694Val	rs1198142930	missense variant	-	NC_000013.11:g.41590672T>C	gnomAD
VWA8	A3KMH1	p.Tyr1695Ser	rs761347448	missense variant	-	NC_000013.11:g.41590668T>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Lys1696Arg	rs1477677326	missense variant	-	NC_000013.11:g.41590665T>C	TOPMed
VWA8	A3KMH1	p.Arg1697Cys	rs567899581	missense variant	-	NC_000013.11:g.41590663G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1697His	rs1306156162	missense variant	-	NC_000013.11:g.41590662C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1698Trp	rs762570477	missense variant	-	NC_000013.11:g.41590660G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1698Gln	rs368521925	missense variant	-	NC_000013.11:g.41590659C>T	ESP,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1699Val	rs1281451004	missense variant	-	NC_000013.11:g.41590656C>A	gnomAD
VWA8	A3KMH1	p.Leu1701Arg	rs775201061	missense variant	-	NC_000013.11:g.41590650A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1703Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41590644G>T	NCI-TCGA
VWA8	A3KMH1	p.Leu1705Pro	rs759913201	missense variant	-	NC_000013.11:g.41587669A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1705Phe	rs891198889	missense variant	-	NC_000013.11:g.41587670G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Leu1705Ile	rs891198889	missense variant	-	NC_000013.11:g.41587670G>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1710Lys	rs1466267661	missense variant	-	NC_000013.11:g.41587655G>T	gnomAD
VWA8	A3KMH1	p.Arg1714Cys	rs201548458	missense variant	-	NC_000013.11:g.41587643G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1714His	rs773624362	missense variant	-	NC_000013.11:g.41587642C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1714Ser	rs201548458	missense variant	-	NC_000013.11:g.41587643G>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1716Cys	rs367818265	missense variant	-	NC_000013.11:g.41587637G>A	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg1716His	rs748405634	missense variant	-	NC_000013.11:g.41587636C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1716Leu	rs748405634	missense variant	-	NC_000013.11:g.41587636C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1716Ser	rs367818265	missense variant	-	NC_000013.11:g.41587637G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1716Cys	rs367818265	missense variant	-	NC_000013.11:g.41587637G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1720Glu	rs1054216296	missense variant	-	NC_000013.11:g.41587623A>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1720Asn	rs768800294	missense variant	-	NC_000013.11:g.41587625C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Val1721Met	rs938205585	missense variant	-	NC_000013.11:g.41587622C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1723Ser	rs898340545	missense variant	-	NC_000013.11:g.41587616C>T	TOPMed
VWA8	A3KMH1	p.Gly1723Asp	rs745728716	missense variant	-	NC_000013.11:g.41587615C>T	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly1723Asp	rs745728716	missense variant	-	NC_000013.11:g.41587615C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1724Gly	rs527636291	missense variant	-	NC_000013.11:g.41587613T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1725Thr	rs1352818312	missense variant	-	NC_000013.11:g.41587609A>G	gnomAD
VWA8	A3KMH1	p.Tyr1726Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41587607A>T	NCI-TCGA
VWA8	A3KMH1	p.Tyr1726Ser	rs374212684	missense variant	-	NC_000013.11:g.41587606T>G	ESP,TOPMed
VWA8	A3KMH1	p.Tyr1726His	rs746799971	missense variant	-	NC_000013.11:g.41587607A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1727His	rs758101871	missense variant	-	NC_000013.11:g.41587603C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Arg1727Cys	rs371311733	missense variant	-	NC_000013.11:g.41587604G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1727Leu	COSM696561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41587603C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Arg1730Ser	rs1396237583	missense variant	-	NC_000013.11:g.41587593C>A	gnomAD
VWA8	A3KMH1	p.Arg1730Gly	rs374449216	missense variant	-	NC_000013.11:g.41587595T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1734Trp	rs764610832	missense variant	-	NC_000013.11:g.41587583G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1734Gln	rs754519395	missense variant	-	NC_000013.11:g.41587582C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1737Cys	rs371087115	missense variant	-	NC_000013.11:g.41587574G>A	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1737Leu	rs773532229	missense variant	-	NC_000013.11:g.41587573C>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1737His	rs773532229	missense variant	-	NC_000013.11:g.41587573C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1739Val	rs372945812	missense variant	-	NC_000013.11:g.41587568T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1740Asp	rs761972082	missense variant	-	NC_000013.11:g.41587563C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1740Lys	COSM3468923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41587565C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Glu1740Gly	rs1187360432	missense variant	-	NC_000013.11:g.41587564T>C	gnomAD
VWA8	A3KMH1	p.Ala1741Thr	rs1258545558	missense variant	-	NC_000013.11:g.41587562C>T	gnomAD
VWA8	A3KMH1	p.Val1742Ala	rs774639967	missense variant	-	NC_000013.11:g.41587558A>G	ExAC,TOPMed
VWA8	A3KMH1	p.Cys1743Phe	rs768565282	missense variant	-	NC_000013.11:g.41587555C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Met1744Thr	rs952585910	missense variant	-	NC_000013.11:g.41587552A>G	TOPMed
VWA8	A3KMH1	p.Met1744Ile	rs146681420	missense variant	-	NC_000013.11:g.41587551C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1746Ile	rs770961955	missense variant	-	NC_000013.11:g.41587545C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1746Ile	rs770961955	missense variant	-	NC_000013.11:g.41587545C>T	NCI-TCGA,NCI-TCGA Cosmic
VWA8	A3KMH1	p.Glu1747Lys	rs746993935	missense variant	-	NC_000013.11:g.41587544C>T	ExAC
VWA8	A3KMH1	p.Ala1748Thr	rs777663948	missense variant	-	NC_000013.11:g.41587541C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1748Val	COSM3468921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41587540G>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Phe1749Leu	rs747733745	missense variant	-	NC_000013.11:g.41587536G>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1750Lys	rs374983635	missense variant	-	NC_000013.11:g.41587535C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1750Gln	rs374983635	missense variant	-	NC_000013.11:g.41587535C>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn1751Ser	rs1381126106	missense variant	-	NC_000013.11:g.41587531T>C	gnomAD
VWA8	A3KMH1	p.Tyr1752Phe	rs750476980	missense variant	-	NC_000013.11:g.41587528T>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1752Cys	rs750476980	missense variant	-	NC_000013.11:g.41587528T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1753Asp	rs765842905	missense variant	-	NC_000013.11:g.41587524C>A	ExAC,TOPMed
VWA8	A3KMH1	p.Glu1753Asp	rs765842905	missense variant	-	NC_000013.11:g.41587524C>G	ExAC,TOPMed
VWA8	A3KMH1	p.Glu1754Lys	rs1402389634	missense variant	-	NC_000013.11:g.41587523C>T	gnomAD
VWA8	A3KMH1	p.Phe1756Cys	rs756587272	missense variant	-	NC_000013.11:g.41587516A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Gln1757Ter	rs914757297	stop gained	-	NC_000013.11:g.41587514G>A	TOPMed
VWA8	A3KMH1	p.Gln1757His	rs1458753053	missense variant	-	NC_000013.11:g.41587512C>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1758Cys	rs1055714247	missense variant	-	NC_000013.11:g.41575837T>C	gnomAD
VWA8	A3KMH1	p.Val1761Ile	rs778640647	missense variant	-	NC_000013.11:g.41575829C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1761Ile	rs778640647	missense variant	-	NC_000013.11:g.41575829C>T	NCI-TCGA
VWA8	A3KMH1	p.Gly1762Ala	rs1197781505	missense variant	-	NC_000013.11:g.41575825C>G	gnomAD
VWA8	A3KMH1	p.Ser1764Pro	rs1457886223	missense variant	-	NC_000013.11:g.41575820A>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1765Arg	rs1259614080	missense variant	-	NC_000013.11:g.41575817C>T	gnomAD
VWA8	A3KMH1	p.Asp1766Ala	rs201909382	missense variant	-	NC_000013.11:g.41575813T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1766His	COSM4047642	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41575814C>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asp1766Glu	rs369845178	missense variant	-	NC_000013.11:g.41575812A>C	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Tyr1768Ter	rs779486786	stop gained	-	NC_000013.11:g.41575806G>T	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1771Asp	rs755650390	missense variant	-	NC_000013.11:g.41575798C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1771Ser	rs1234586583	missense variant	-	NC_000013.11:g.41575799C>T	gnomAD
VWA8	A3KMH1	p.Val1773Phe	rs563747643	missense variant	-	NC_000013.11:g.41575793C>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1773Ile	rs563747643	missense variant	-	NC_000013.11:g.41575793C>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1773Ala	COSM4047641	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41575792A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Pro1774Arg	rs764414849	missense variant	-	NC_000013.11:g.41575789G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Met1775Val	rs199583018	missense variant	-	NC_000013.11:g.41575787T>C	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1775Ile	COSM432399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41575785C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asn1776Tyr	rs1288476316	missense variant	-	NC_000013.11:g.41575784T>A	TOPMed
VWA8	A3KMH1	p.Pro1779Leu	rs765343533	missense variant	-	NC_000013.11:g.41575774G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1779Ser	rs752894411	missense variant	-	NC_000013.11:g.41575775G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1781Ala	rs1173297390	missense variant	-	NC_000013.11:g.41575768T>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Asn1782Asp	COSM4047640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41575766T>C	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gln1784Lys	rs201654359	missense variant	-	NC_000013.11:g.41575760G>T	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1784Pro	rs200850191	missense variant	-	NC_000013.11:g.41575759T>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1784Arg	rs200850191	missense variant	-	NC_000013.11:g.41575759T>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1785Gly	rs1440110096	missense variant	-	NC_000013.11:g.41575757T>C	gnomAD
VWA8	A3KMH1	p.Glu1787Lys	rs1201359539	missense variant	-	NC_000013.11:g.41575751C>T	gnomAD
VWA8	A3KMH1	p.Glu1787Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41575749T>G	NCI-TCGA
VWA8	A3KMH1	p.Glu1787Gly	rs1356800766	missense variant	-	NC_000013.11:g.41575750T>C	TOPMed
VWA8	A3KMH1	p.Leu1789Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41575745G>T	NCI-TCGA
VWA8	A3KMH1	p.Thr1791Arg	rs1162363871	missense variant	-	NC_000013.11:g.41570705G>C	gnomAD
VWA8	A3KMH1	p.Met1792Val	rs1404575370	missense variant	-	NC_000013.11:g.41570703T>C	gnomAD
VWA8	A3KMH1	p.Met1792Thr	rs980610740	missense variant	-	NC_000013.11:g.41570702A>G	TOPMed,gnomAD
VWA8	A3KMH1	p.Met1792Ile	rs770380432	missense variant	-	NC_000013.11:g.41570701C>T	ExAC,gnomAD
VWA8	A3KMH1	p.His1793Tyr	rs1254976147	missense variant	-	NC_000013.11:g.41570700G>A	TOPMed
VWA8	A3KMH1	p.His1793Arg	rs369708747	missense variant	-	NC_000013.11:g.41570699T>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1794Asp	rs778158594	missense variant	-	NC_000013.11:g.41570696G>T	ExAC,gnomAD
VWA8	A3KMH1	p.His1795ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.41570693T>-	NCI-TCGA
VWA8	A3KMH1	p.His1795Asn	rs1172215082	missense variant	-	NC_000013.11:g.41570694G>T	TOPMed
VWA8	A3KMH1	p.Ser1796Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41570690G>T	NCI-TCGA
VWA8	A3KMH1	p.Gln1797His	rs755224881	missense variant	-	NC_000013.11:g.41570686C>G	ExAC,gnomAD
VWA8	A3KMH1	p.Gln1797Pro	rs1265997764	missense variant	-	NC_000013.11:g.41570687T>G	gnomAD
VWA8	A3KMH1	p.Phe1798Cys	rs1323285580	missense variant	-	NC_000013.11:g.41570684A>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Phe1798Ile	rs754134493	missense variant	-	NC_000013.11:g.41570685A>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe1798Leu	rs754134493	missense variant	-	NC_000013.11:g.41570685A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Cys1799Ter	rs1230225110	stop gained	-	NC_000013.11:g.41570680G>T	gnomAD
VWA8	A3KMH1	p.Cys1799Arg	rs766440974	missense variant	-	NC_000013.11:g.41570682A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ser1801Arg	rs1177032146	missense variant	-	NC_000013.11:g.41570674A>T	TOPMed
VWA8	A3KMH1	p.Thr1805Lys	rs761358108	missense variant	-	NC_000013.11:g.41570663G>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1805Met	rs761358108	missense variant	-	NC_000013.11:g.41570663G>A	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Glu1807Gln	COSM4824208	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41570658C>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gly1808AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.41570639_41570654ATGGCATGTTCTGTCC>-	NCI-TCGA
VWA8	A3KMH1	p.Gly1808Glu	rs762988663	missense variant	-	NC_000013.11:g.41570654C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Thr1809Ile	rs533635699	missense variant	-	NC_000013.11:g.41570651G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1809Ala	rs202013257	missense variant	-	NC_000013.11:g.41570652T>C	1000Genomes,ESP,TOPMed
VWA8	A3KMH1	p.Glu1810Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41570647T>G	NCI-TCGA
VWA8	A3KMH1	p.His1811Leu	rs759153232	missense variant	-	NC_000013.11:g.41570645T>A	ExAC,gnomAD
VWA8	A3KMH1	p.His1811Asn	rs200520340	missense variant	-	NC_000013.11:g.41570646G>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.His1811Tyr	rs200520340	missense variant	-	NC_000013.11:g.41570646G>A	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.His1811Arg	rs759153232	missense variant	-	NC_000013.11:g.41570645T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1812Asp	rs1325350192	missense variant	-	NC_000013.11:g.41570642G>T	gnomAD
VWA8	A3KMH1	p.Ile1813Leu	rs776273871	missense variant	-	NC_000013.11:g.41570640T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Glu1815Lys	rs1422482429	missense variant	-	NC_000013.11:g.41570634C>T	gnomAD
VWA8	A3KMH1	p.Ile1816Thr	rs371767645	missense variant	-	NC_000013.11:g.41570630A>G	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Glu1819Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41570621T>C	NCI-TCGA
VWA8	A3KMH1	p.Glu1819Lys	rs541387551	missense variant	-	NC_000013.11:g.41570622C>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Glu1820Asp	rs772843463	missense variant	-	NC_000013.11:g.41570617T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1822Asn	rs527790022	missense variant	-	NC_000013.11:g.41570613C>T	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Asp1822Glu	rs367898232	missense variant	-	NC_000013.11:g.41570611A>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1827Val	rs749453959	missense variant	-	NC_000013.11:g.41570598T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1827Leu	rs749453959	missense variant	-	NC_000013.11:g.41570598T>G	ExAC,gnomAD
VWA8	A3KMH1	p.Asn1833Thr	rs371464239	missense variant	-	NC_000013.11:g.41570579T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asn1833His	COSM4047638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41570580T>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Leu1834Arg	rs192105242	missense variant	-	NC_000013.11:g.41570576A>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1836Ter	rs201130705	stop gained	-	NC_000013.11:g.41570571G>A	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Arg1836Gln	rs752666461	missense variant	-	NC_000013.11:g.41570570C>T	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1836Pro	rs752666461	missense variant	-	NC_000013.11:g.41570570C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Tyr1837His	rs764948828	missense variant	-	NC_000013.11:g.41570568A>G	ExAC,gnomAD
VWA8	A3KMH1	p.Ile1839Leu	rs556721352	missense variant	-	NC_000013.11:g.41570562T>G	1000Genomes,ExAC,gnomAD
VWA8	A3KMH1	p.Ile1839Thr	rs1445028598	missense variant	-	NC_000013.11:g.41570561A>G	gnomAD
VWA8	A3KMH1	p.His1840Pro	rs376274377	missense variant	-	NC_000013.11:g.41570558T>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Pro1841Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41570555G>A	NCI-TCGA
VWA8	A3KMH1	p.AlaLysPhe1842AlaLysTerValUnk	rs1431280057	stop gained	-	NC_000013.11:g.41570551_41570552insCTTA	TOPMed
VWA8	A3KMH1	p.Lys1843Met	rs1283259439	missense variant	-	NC_000013.11:g.41570549T>A	gnomAD
VWA8	A3KMH1	p.Phe1844Leu	rs760412994	missense variant	-	NC_000013.11:g.41570545A>C	ExAC,gnomAD
VWA8	A3KMH1	p.Phe1844Cys	rs1200133751	missense variant	-	NC_000013.11:g.41570546A>C	TOPMed
VWA8	A3KMH1	p.Phe1844Val	rs1426500935	missense variant	-	NC_000013.11:g.41570547A>C	gnomAD
VWA8	A3KMH1	p.Gln1846Lys	rs764821064	missense variant	-	NC_000013.11:g.41570541G>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1846Ter	rs764821064	stop gained	-	NC_000013.11:g.41570541G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1846His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41570539T>G	NCI-TCGA
VWA8	A3KMH1	p.Gln1846Glu	rs764821064	missense variant	-	NC_000013.11:g.41570541G>C	TOPMed,gnomAD
VWA8	A3KMH1	p.Ile1847Phe	rs772570915	missense variant	-	NC_000013.11:g.41570538T>A	ExAC,gnomAD
VWA8	A3KMH1	p.Asp1851Gly	rs775002502	missense variant	-	NC_000013.11:g.41570525T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1852Leu	rs1211395779	missense variant	-	NC_000013.11:g.41570522G>A	gnomAD
VWA8	A3KMH1	p.Val1854Ile	rs769083020	missense variant	-	NC_000013.11:g.41570517C>T	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1856Val	rs1455588967	missense variant	-	NC_000013.11:g.41570510G>A	TOPMed
VWA8	A3KMH1	p.Ala1858Val	rs769886868	missense variant	-	NC_000013.11:g.41570504G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Ala1858Ser	rs780509195	missense variant	-	NC_000013.11:g.41570505C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Phe1860Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41570498A>C	NCI-TCGA
VWA8	A3KMH1	p.Ser1863Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41570489G>T	NCI-TCGA
VWA8	A3KMH1	p.Ser1863Cys	rs757338212	missense variant	-	NC_000013.11:g.41570489G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1865Asp	rs371191777	missense variant	-	NC_000013.11:g.41570483C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gly1865Ala	rs371191777	missense variant	-	NC_000013.11:g.41570483C>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Asp1866Asn	rs376787899	missense variant	-	NC_000013.11:g.41570481C>T	ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Arg1870Ser	rs771113852	missense variant	-	NC_000013.11:g.41568305C>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1870Lys	rs915123929	missense variant	-	NC_000013.11:g.41570468C>T	TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1870Gly	rs754978387	missense variant	-	NC_000013.11:g.41570469T>C	ExAC,gnomAD
VWA8	A3KMH1	p.Leu1871Arg	rs201699330	missense variant	-	NC_000013.11:g.41568303A>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Gln1872Arg	rs892927004	missense variant	-	NC_000013.11:g.41568300T>C	TOPMed
VWA8	A3KMH1	p.Thr1874Ile	rs773225203	missense variant	-	NC_000013.11:g.41568294G>A	ExAC,gnomAD
VWA8	A3KMH1	p.Thr1874Ser	rs773225203	missense variant	-	NC_000013.11:g.41568294G>C	ExAC,gnomAD
VWA8	A3KMH1	p.Pro1876Ser	rs368832275	missense variant	-	NC_000013.11:g.41568289G>A	gnomAD
VWA8	A3KMH1	p.Ala1877Gly	rs1372327429	missense variant	-	NC_000013.11:g.41568285G>C	TOPMed
VWA8	A3KMH1	p.Gly1878Val	rs772166629	missense variant	-	NC_000013.11:g.41568282C>A	ExAC,gnomAD
VWA8	A3KMH1	p.Gly1878Cys	rs1197419308	missense variant	-	NC_000013.11:g.41568283C>A	gnomAD
VWA8	A3KMH1	p.Arg1879Trp	rs576123636	missense variant	-	NC_000013.11:g.41568280G>A	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1879Gln	rs372826442	missense variant	-	NC_000013.11:g.41568279C>T	1000Genomes,ESP,ExAC,gnomAD
VWA8	A3KMH1	p.Arg1879Gly	rs576123636	missense variant	-	NC_000013.11:g.41568280G>C	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Arg1879Leu	COSM6074662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41568279C>A	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Phe1881Ser	rs554992110	missense variant	-	NC_000013.11:g.41568273A>G	1000Genomes,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1882Ile	rs369063501	missense variant	-	NC_000013.11:g.41568271C>T	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Ala1883Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41568268C>T	NCI-TCGA
VWA8	A3KMH1	p.Ala1883Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41568267G>A	NCI-TCGA
VWA8	A3KMH1	p.Met1884Thr	rs757943381	missense variant	-	NC_000013.11:g.41568264A>G	ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Met1884Val	rs1459298573	missense variant	-	NC_000013.11:g.41568265T>C	TOPMed
VWA8	A3KMH1	p.Met1884Ile	COSM1366910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41568263C>T	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Asp1888Gly	rs1199273846	missense variant	-	NC_000013.11:g.41568252T>C	gnomAD
VWA8	A3KMH1	p.Ile1889Ser	rs1232736297	missense variant	-	NC_000013.11:g.41568249A>C	TOPMed
VWA8	A3KMH1	p.Ile1889Thr	COSM4047637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.41568249A>G	NCI-TCGA Cosmic
VWA8	A3KMH1	p.Gln1891Glu	rs1455449798	missense variant	-	NC_000013.11:g.41568244G>C	gnomAD
VWA8	A3KMH1	p.Leu1893Ter	rs1236163278	stop gained	-	NC_000013.11:g.41568237A>C	gnomAD
VWA8	A3KMH1	p.Phe1897Leu	rs201705320	missense variant	-	NC_000013.11:g.41568226A>G	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Phe1897Val	rs201705320	missense variant	-	NC_000013.11:g.41568226A>C	ESP,ExAC,TOPMed,gnomAD
VWA8	A3KMH1	p.Thr1898Ile	rs973769509	missense variant	-	NC_000013.11:g.41568222G>A	TOPMed,gnomAD
VWA8	A3KMH1	p.Ser1899Pro	rs1274497752	missense variant	-	NC_000013.11:g.41568220A>G	gnomAD
VWA8	A3KMH1	p.Thr1900Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.41568216G>A	NCI-TCGA
VWA8	A3KMH1	p.Met1901Val	rs1198290990	missense variant	-	NC_000013.11:g.41568214T>C	gnomAD
VWA8	A3KMH1	p.Ser1903Pro	rs1255965746	missense variant	-	NC_000013.11:g.41568208A>G	gnomAD
VWA8	A3KMH1	p.Ser1903Leu	rs373531885	missense variant	-	NC_000013.11:g.41568207G>A	ESP,TOPMed,gnomAD
VWA8	A3KMH1	p.Val1905Ile	rs1307548486	missense variant	-	NC_000013.11:g.41568202C>T	gnomAD
VWA8	A3KMH1	p.Ter1906LeuUnk	rs752287123	stop lost	-	NC_000013.11:g.41568199dup	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro6Gln	rs1230106419	missense variant	-	NC_000006.12:g.150865839C>A	TOPMed
MTHFD1L	B7ZM99	p.Val8Leu	rs777145083	missense variant	-	NC_000006.12:g.150865844G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg10Ser	rs1415209119	missense variant	-	NC_000006.12:g.150865850C>A	TOPMed
MTHFD1L	B7ZM99	p.Leu12Val	rs1347112630	missense variant	-	NC_000006.12:g.150865856C>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg13Cys	rs759989013	missense variant	-	NC_000006.12:g.150865859C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg13His	rs1273851891	missense variant	-	NC_000006.12:g.150865860G>A	gnomAD
MTHFD1L	B7ZM99	p.Arg14Cys	rs1384972168	missense variant	-	NC_000006.12:g.150865862C>T	TOPMed
MTHFD1L	B7ZM99	p.Pro15Gln	rs1483108179	missense variant	-	NC_000006.12:g.150865866C>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro15Ser	rs1362307986	missense variant	-	NC_000006.12:g.150865865C>T	gnomAD
MTHFD1L	B7ZM99	p.Pro15Leu	rs1483108179	missense variant	-	NC_000006.12:g.150865866C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln17Glu	rs1270189287	missense variant	-	NC_000006.12:g.150865871C>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro18Ser	rs763631489	missense variant	-	NC_000006.12:g.150865874C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro22Ser	rs1294647858	missense variant	-	NC_000006.12:g.150865886C>T	gnomAD
MTHFD1L	B7ZM99	p.Pro22Gln	rs1489952771	missense variant	-	NC_000006.12:g.150865887C>A	gnomAD
MTHFD1L	B7ZM99	p.Pro28Ser	rs1425174562	missense variant	-	NC_000006.12:g.150865904C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Cys29Ser	rs1447831103	missense variant	-	NC_000006.12:g.150865908G>C	TOPMed
MTHFD1L	B7ZM99	p.Arg30Ser	rs1286367220	missense variant	-	NC_000006.12:g.150865910C>A	TOPMed
MTHFD1L	B7ZM99	p.Ala31Ser	rs1190961353	missense variant	-	NC_000006.12:g.150865913G>T	gnomAD
MTHFD1L	B7ZM99	p.Ala31Gly	rs879410757	missense variant	-	NC_000006.12:g.150865914C>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser33Asn	rs1267504468	missense variant	-	NC_000006.12:g.150865920G>A	TOPMed
MTHFD1L	B7ZM99	p.Gly34Ser	rs1185004228	missense variant	-	NC_000006.12:g.150865922G>A	gnomAD
MTHFD1L	B7ZM99	p.Gly34Asp	rs961300669	missense variant	-	NC_000006.12:g.150865923G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly36Ser	rs917897729	missense variant	-	NC_000006.12:g.150865928G>A	TOPMed
MTHFD1L	B7ZM99	p.Gly41Ser	rs1380673640	missense variant	-	NC_000006.12:g.150865943G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg43Pro	rs1277656894	missense variant	-	NC_000006.12:g.150865950G>C	gnomAD
MTHFD1L	B7ZM99	p.Glu44Asp	rs1445341506	missense variant	-	NC_000006.12:g.150865954G>T	gnomAD
MTHFD1L	B7ZM99	p.Leu46Met	rs1475849539	missense variant	-	NC_000006.12:g.150865958C>A	TOPMed
MTHFD1L	B7ZM99	p.Leu47Phe	rs926717697	missense variant	-	NC_000006.12:g.150865961C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln49His	rs552327319	missense variant	-	NC_000006.12:g.150865969G>C	1000Genomes
MTHFD1L	B7ZM99	p.Pro52Ser	rs1367419600	missense variant	-	NC_000006.12:g.150865976C>T	gnomAD
MTHFD1L	B7ZM99	p.Asp54Asn	rs1351237228	missense variant	-	NC_000006.12:g.150865982G>A	TOPMed
MTHFD1L	B7ZM99	p.Gly55Ser	rs1253723013	missense variant	-	NC_000006.12:g.150865985G>A	TOPMed
MTHFD1L	B7ZM99	p.Gly55Val	rs1322576014	missense variant	-	NC_000006.12:g.150865986G>T	gnomAD
MTHFD1L	B7ZM99	p.Ala57Pro	rs1323466389	missense variant	-	NC_000006.12:g.150865991G>C	TOPMed
MTHFD1L	B7ZM99	p.Arg58Gly	rs1287410355	missense variant	-	NC_000006.12:g.150865994C>G	TOPMed
MTHFD1L	B7ZM99	p.Ser59Thr	rs1339624366	missense variant	-	NC_000006.12:g.150865998G>C	TOPMed
MTHFD1L	B7ZM99	p.Pro63Ala	rs1299453169	missense variant	-	NC_000006.12:g.150866009C>G	TOPMed
MTHFD1L	B7ZM99	p.Gly64Ser	rs1317772007	missense variant	-	NC_000006.12:g.150866012G>A	gnomAD
MTHFD1L	B7ZM99	p.Gly65Cys	rs756893441	missense variant	-	NC_000006.12:g.150866015G>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly65Ser	rs756893441	missense variant	-	NC_000006.12:g.150866015G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr67Lys	rs1312105637	missense variant	-	NC_000006.12:g.150866022C>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr67Arg	rs1312105637	missense variant	-	NC_000006.12:g.150866022C>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro68Leu	rs1053900238	missense variant	-	NC_000006.12:g.150866025C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro68His	rs1053900238	missense variant	-	NC_000006.12:g.150866025C>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala69Thr	rs1410942851	missense variant	-	NC_000006.12:g.150866027G>A	TOPMed
MTHFD1L	B7ZM99	p.Ala69Val	rs1209785715	missense variant	-	NC_000006.12:g.150866028C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala70Gly	rs1285311883	missense variant	-	NC_000006.12:g.150866031C>G	gnomAD
MTHFD1L	B7ZM99	p.Asp72Ala	rs1258131764	missense variant	-	NC_000006.12:g.150866037A>C	gnomAD
MTHFD1L	B7ZM99	p.Ser73Pro	rs1449129324	missense variant	-	NC_000006.12:g.150866039T>C	gnomAD
MTHFD1L	B7ZM99	p.Ile74Thr	rs1213848200	missense variant	-	NC_000006.12:g.150866043T>C	gnomAD
MTHFD1L	B7ZM99	p.Val75Gly	rs1241798520	missense variant	-	NC_000006.12:g.150866046T>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg76Lys	rs1449100329	missense variant	-	NC_000006.12:g.150866049G>A	TOPMed
MTHFD1L	B7ZM99	p.Arg76Ter	rs1445284688	stop gained	-	NC_000006.12:g.150866048A>T	gnomAD
MTHFD1L	B7ZM99	p.Val78Gly	rs752691220	missense variant	-	NC_000006.12:g.150876095T>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val85Ile	rs758500649	missense variant	-	NC_000006.12:g.150876115G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Leu86Ile	rs778028489	missense variant	-	NC_000006.12:g.150876118C>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser87Asn	rs771110218	missense variant	-	NC_000006.12:g.150876122G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln90Pro	rs1370330949	missense variant	-	NC_000006.12:g.150876131A>C	TOPMed
MTHFD1L	B7ZM99	p.Lys92Asn	rs574811900	missense variant	-	NC_000006.12:g.150876138A>C	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Lys92Glu	rs1463154196	missense variant	-	NC_000006.12:g.150876136A>G	gnomAD
MTHFD1L	B7ZM99	p.Asn93Thr	rs746288510	missense variant	-	NC_000006.12:g.150876140A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asn93Lys	rs200932801	missense variant	-	NC_000006.12:g.150876141C>A	1000Genomes,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Pro94Ser	rs1422023663	missense variant	-	NC_000006.12:g.150876142C>T	TOPMed
MTHFD1L	B7ZM99	p.Ala95Thr	rs771532672	missense variant	-	NC_000006.12:g.150876145G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Phe96Leu	rs1454679762	missense variant	-	NC_000006.12:g.150876150C>G	gnomAD
MTHFD1L	B7ZM99	p.Lys97Asn	rs772750317	missense variant	-	NC_000006.12:g.150876153G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Lys97Met	rs1290821658	missense variant	-	NC_000006.12:g.150876152A>T	gnomAD
MTHFD1L	B7ZM99	p.Pro98Arg	rs760359979	missense variant	-	NC_000006.12:g.150876155C>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro98Leu	rs760359979	missense variant	-	NC_000006.12:g.150876155C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala101Gly	rs1295842575	missense variant	-	NC_000006.12:g.150876164C>G	gnomAD
MTHFD1L	B7ZM99	p.Ile103Met	rs199978377	missense variant	-	NC_000006.12:g.150876171C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala105Thr	rs1046485608	missense variant	-	NC_000006.12:g.150877634G>A	TOPMed
MTHFD1L	B7ZM99	p.Gly106Ser	rs972460542	missense variant	-	NC_000006.12:g.150877637G>A	TOPMed
MTHFD1L	B7ZM99	p.Asp108Asn	rs116360932	missense variant	-	NC_000006.12:g.150877643G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp108Glu	rs1325032807	missense variant	-	NC_000006.12:g.150877645C>G	gnomAD
MTHFD1L	B7ZM99	p.Asp108His	rs116360932	missense variant	-	NC_000006.12:g.150877643G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu110Ser	rs1207496975	missense variant	-	NC_000006.12:g.150877650T>C	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Met111Ile	rs775574496	missense variant	-	NC_000006.12:g.150877654G>T	gnomAD
MTHFD1L	B7ZM99	p.Met111Ile	rs775574496	missense variant	-	NC_000006.12:g.150877654G>A	gnomAD
MTHFD1L	B7ZM99	p.Gln112His	rs1033874659	missense variant	-	NC_000006.12:g.150877657G>C	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu113Gly	rs780376852	missense variant	-	NC_000006.12:g.150877659A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asn117Ser	rs1472483788	missense variant	-	NC_000006.12:g.150877671A>G	gnomAD
MTHFD1L	B7ZM99	p.Glu121Lys	rs1200366401	missense variant	-	NC_000006.12:g.150877682G>A	gnomAD
MTHFD1L	B7ZM99	p.Gly123Ala	rs1351412221	missense variant	-	NC_000006.12:g.150877777G>C	gnomAD
MTHFD1L	B7ZM99	p.Ile126Val	rs1195534342	missense variant	-	NC_000006.12:g.150877785A>G	TOPMed
MTHFD1L	B7ZM99	p.Ile126Met	rs779276557	missense variant	-	NC_000006.12:g.150877787C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Thr127Ile	rs748567775	missense variant	-	NC_000006.12:g.150877789C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.His128Tyr	rs1014529608	missense variant	-	NC_000006.12:g.150877791C>T	gnomAD
MTHFD1L	B7ZM99	p.His128Arg	rs764043398	missense variant	-	NC_000006.12:g.150877792A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Cys130Gly	rs1036946187	missense variant	-	NC_000006.12:g.150877797T>G	TOPMed
MTHFD1L	B7ZM99	p.Pro132Leu	rs1294351387	missense variant	-	NC_000006.12:g.150877804C>T	gnomAD
MTHFD1L	B7ZM99	p.Pro133Ala	rs745453249	missense variant	-	NC_000006.12:g.150877806C>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp134Asn	rs769436677	missense variant	-	NC_000006.12:g.150877809G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp134Val	rs775229331	missense variant	-	NC_000006.12:g.150877810A>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ser135Asn	rs1186821750	missense variant	-	NC_000006.12:g.150877813G>A	gnomAD
MTHFD1L	B7ZM99	p.Ser136Arg	rs768531413	missense variant	-	NC_000006.12:g.150877817T>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala138Thr	rs1164169795	missense variant	-	NC_000006.12:g.150877821G>A	gnomAD
MTHFD1L	B7ZM99	p.Glu139Lys	rs761637670	missense variant	-	NC_000006.12:g.150877824G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile141Val	rs190762212	missense variant	-	NC_000006.12:g.150882765A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu145Ter	rs1247232238	stop gained	-	NC_000006.12:g.150882778T>G	TOPMed
MTHFD1L	B7ZM99	p.Lys146Asn	rs1336713094	missense variant	-	NC_000006.12:g.150882782G>T	gnomAD
MTHFD1L	B7ZM99	p.Asn148Lys	rs1013122691	missense variant	-	NC_000006.12:g.150882788T>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn148Ser	rs756135532	missense variant	-	NC_000006.12:g.150882787A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg152Lys	rs200199559	missense variant	-	NC_000006.12:g.150882799G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg152Thr	rs200199559	missense variant	-	NC_000006.12:g.150882799G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val153Ala	rs1267799753	missense variant	-	NC_000006.12:g.150882802T>C	gnomAD
MTHFD1L	B7ZM99	p.Ala157Val	rs563502628	missense variant	-	NC_000006.12:g.150882814C>T	TOPMed
MTHFD1L	B7ZM99	p.Ala157Thr	rs773149268	missense variant	-	NC_000006.12:g.150882813G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Leu158Val	rs1044942130	missense variant	-	NC_000006.12:g.150882816C>G	TOPMed
MTHFD1L	B7ZM99	p.Gln159His	rs780140904	missense variant	-	NC_000006.12:g.150882821G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gln159His	rs780140904	missense variant	-	NC_000006.12:g.150882821G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile160Leu	rs759740003	missense variant	-	NC_000006.12:g.150882822A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Glu162Lys	rs1157955113	missense variant	-	NC_000006.12:g.150882828G>A	TOPMed
MTHFD1L	B7ZM99	p.Glu162Val	rs765560044	missense variant	-	NC_000006.12:g.150882829A>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ser166Asn	rs1445063804	missense variant	-	NC_000006.12:g.150882841G>A	TOPMed
MTHFD1L	B7ZM99	p.Lys168Glu	rs764389984	missense variant	-	NC_000006.12:g.150882846A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Leu170Phe	rs752072207	missense variant	-	NC_000006.12:g.150882852C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asn171Ser	rs1173762712	missense variant	-	NC_000006.12:g.150882856A>G	gnomAD
MTHFD1L	B7ZM99	p.Asn171Asp	rs1386822368	missense variant	-	NC_000006.12:g.150882855A>G	TOPMed
MTHFD1L	B7ZM99	p.Lys174Thr	rs1421496200	missense variant	-	NC_000006.12:g.150882865A>C	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Lys174Glu	rs141973185	missense variant	-	NC_000006.12:g.150882864A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp178Gly	rs753459390	missense variant	-	NC_000006.12:g.150882877A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp180Glu	rs1372778546	missense variant	-	NC_000006.12:g.150882884T>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp180Val	rs1206432996	missense variant	-	NC_000006.12:g.150882883A>T	TOPMed
MTHFD1L	B7ZM99	p.Val182Leu	rs1388689366	missense variant	-	NC_000006.12:g.150885635G>T	gnomAD
MTHFD1L	B7ZM99	p.Thr183Ala	rs775733841	missense variant	-	NC_000006.12:g.150885638A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Thr183Ile	rs1178771032	missense variant	-	NC_000006.12:g.150885639C>T	TOPMed
MTHFD1L	B7ZM99	p.Ile185Val	rs763116264	missense variant	-	NC_000006.12:g.150885644A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile185Thr	rs1481301943	missense variant	-	NC_000006.12:g.150885645T>C	TOPMed
MTHFD1L	B7ZM99	p.Asn186Ser	rs1228330095	missense variant	-	NC_000006.12:g.150885648A>G	gnomAD
MTHFD1L	B7ZM99	p.Lys189Asn	rs774908616	missense variant	-	NC_000006.12:g.150885658G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Leu190Pro	rs1204354944	missense variant	-	NC_000006.12:g.150885660T>C	TOPMed
MTHFD1L	B7ZM99	p.Arg192Ter	rs1211243722	stop gained	-	NC_000006.12:g.150885665C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg192Gln	rs750978722	missense variant	-	NC_000006.12:g.150885666G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala195Thr	rs1450538226	missense variant	-	NC_000006.12:g.150885674G>A	gnomAD
MTHFD1L	B7ZM99	p.Pro202Thr	rs1448156543	missense variant	-	NC_000006.12:g.150885695C>A	gnomAD
MTHFD1L	B7ZM99	p.Val203Ile	rs1369385942	missense variant	-	NC_000006.12:g.150885698G>A	gnomAD
MTHFD1L	B7ZM99	p.Ala204Thr	rs764681771	missense variant	-	NC_000006.12:g.150885701G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val207Leu	rs202128387	missense variant	-	NC_000006.12:g.150885710G>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val207Ile	rs202128387	missense variant	-	NC_000006.12:g.150885710G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu210Phe	rs758034959	missense variant	-	NC_000006.12:g.150885719C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu211Arg	rs1322558705	missense variant	-	NC_000006.12:g.150885723T>G	gnomAD
MTHFD1L	B7ZM99	p.Glu212Gly	rs777529589	missense variant	-	NC_000006.12:g.150885726A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val215Leu	rs1371221387	missense variant	-	NC_000006.12:g.150885734G>C	TOPMed
MTHFD1L	B7ZM99	p.Val215Ile	rs1371221387	missense variant	-	NC_000006.12:g.150885734G>A	TOPMed
MTHFD1L	B7ZM99	p.Val215Ala	rs763170805	missense variant	-	NC_000006.12:g.150887842T>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly216Cys	rs761122879	missense variant	-	NC_000006.12:g.150887844G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly216Asp	rs1020291479	missense variant	-	NC_000006.12:g.150887845G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly216Val	rs1020291479	missense variant	-	NC_000006.12:g.150887845G>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp220Gly	rs150695212	missense variant	-	NC_000006.12:g.150887857A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly221Val	rs188595740	missense variant	-	NC_000006.12:g.150887860G>T	1000Genomes
MTHFD1L	B7ZM99	p.Lys222Arg	rs917428267	missense variant	-	NC_000006.12:g.150887863A>G	TOPMed
MTHFD1L	B7ZM99	p.Lys223Thr	rs1159185263	missense variant	-	NC_000006.12:g.150887866A>C	TOPMed
MTHFD1L	B7ZM99	p.Gly228Arg	rs758064126	missense variant	-	NC_000006.12:g.150887880G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.His230Tyr	rs763668586	missense variant	-	NC_000006.12:g.150887886C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.His230Asp	rs763668586	missense variant	-	NC_000006.12:g.150887886C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gln238Arg	rs745788521	missense variant	-	NC_000006.12:g.150887911A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu240Val	rs749398298	missense variant	-	NC_000006.12:g.150887916C>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln242Pro	rs1475718716	missense variant	-	NC_000006.12:g.150887923A>C	TOPMed
MTHFD1L	B7ZM99	p.Lys244Glu	rs139687564	missense variant	-	NC_000006.12:g.150887928A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Lys244Arg	rs748408811	missense variant	-	NC_000006.12:g.150887929A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly245Val	rs1301060718	missense variant	-	NC_000006.12:g.150887932G>T	gnomAD
MTHFD1L	B7ZM99	p.Gly245Ala	rs1301060718	missense variant	-	NC_000006.12:g.150887932G>C	gnomAD
MTHFD1L	B7ZM99	p.Met247Val	rs772530357	missense variant	-	NC_000006.12:g.150887937A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Thr248Ile	rs773755987	missense variant	-	NC_000006.12:g.150887941C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Met249Val	rs761230641	missense variant	-	NC_000006.12:g.150887943A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Met249Thr	rs200812230	missense variant	-	NC_000006.12:g.150887944T>C	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser250Arg	rs777198342	missense variant	-	NC_000006.12:g.150887948C>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser250Arg	rs376881399	missense variant	-	NC_000006.12:g.150887946A>C	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln252His	rs762310271	missense variant	-	NC_000006.12:g.150887954G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Thr255Ala	rs763617740	missense variant	-	NC_000006.12:g.150887961A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr255Ile	rs1255971044	missense variant	-	NC_000006.12:g.150887962C>T	gnomAD
MTHFD1L	B7ZM99	p.Arg256His	rs1207817931	missense variant	-	NC_000006.12:g.150887965G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg256Cys	rs142599909	missense variant	-	NC_000006.12:g.150887964C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln257Arg	rs761493886	missense variant	-	NC_000006.12:g.150887968A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gln257His	rs144664749	missense variant	-	NC_000006.12:g.150887969G>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln259His	rs756078169	missense variant	-	NC_000006.12:g.150887975A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gln259Arg	rs750247107	missense variant	-	NC_000006.12:g.150887974A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Glu264Lys	rs1320906603	missense variant	-	NC_000006.12:g.150905656G>A	TOPMed
MTHFD1L	B7ZM99	p.Ala265Thr	rs544225773	missense variant	-	NC_000006.12:g.150905659G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp266Tyr	rs1223818690	missense variant	-	NC_000006.12:g.150905662G>T	TOPMed
MTHFD1L	B7ZM99	p.Ile267Phe	rs753684815	missense variant	-	NC_000006.12:g.150905665A>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile267Val	rs753684815	missense variant	-	NC_000006.12:g.150905665A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val268Met	rs1442101988	missense variant	-	NC_000006.12:g.150905668G>A	TOPMed
MTHFD1L	B7ZM99	p.Val268Ala	rs1206977154	missense variant	-	NC_000006.12:g.150905669T>C	gnomAD
MTHFD1L	B7ZM99	p.Leu270Pro	rs779119998	missense variant	-	NC_000006.12:g.150905675T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly271Arg	rs1446293645	missense variant	-	NC_000006.12:g.150905677G>C	gnomAD
MTHFD1L	B7ZM99	p.Ser272Pro	rs1238942937	missense variant	-	NC_000006.12:g.150905680T>C	gnomAD
MTHFD1L	B7ZM99	p.Pro273Leu	rs564099264	missense variant	-	NC_000006.12:g.150905684C>T	1000Genomes,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Pro273Thr	rs758556115	missense variant	-	NC_000006.12:g.150905683C>A	ExAC
MTHFD1L	B7ZM99	p.Pro275Ser	rs771161505	missense variant	-	NC_000006.12:g.150905689C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Pro275Leu	rs1306805680	missense variant	-	NC_000006.12:g.150905690C>T	gnomAD
MTHFD1L	B7ZM99	p.Glu276Gly	rs781652142	missense variant	-	NC_000006.12:g.150905693A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile278Phe	rs746353168	missense variant	-	NC_000006.12:g.150905698A>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile278Leu	rs746353168	missense variant	-	NC_000006.12:g.150905698A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Thr281Ile	rs770345180	missense variant	-	NC_000006.12:g.150905708C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gln284Arg	rs1357762813	missense variant	-	NC_000006.12:g.150905717A>G	gnomAD
MTHFD1L	B7ZM99	p.Pro285Thr	rs747595859	missense variant	-	NC_000006.12:g.150905719C>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly286Glu	rs771627882	missense variant	-	NC_000006.12:g.150905723G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val289Leu	rs772693578	missense variant	-	NC_000006.12:g.150905731G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asn291Ser	rs1345839358	missense variant	-	NC_000006.12:g.150905738A>G	gnomAD
MTHFD1L	B7ZM99	p.Ser293Phe	rs1339039642	missense variant	-	NC_000006.12:g.150905744C>T	TOPMed
MTHFD1L	B7ZM99	p.His294Arg	rs766063498	missense variant	-	NC_000006.12:g.150905747A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.His294Leu	rs766063498	missense variant	-	NC_000006.12:g.150905747A>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Phe296Leu	rs776621458	missense variant	-	NC_000006.12:g.150905754C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Phe296Tyr	rs1280728867	missense variant	-	NC_000006.12:g.150905753T>A	gnomAD
MTHFD1L	B7ZM99	p.Gly299Glu	rs143283631	missense variant	-	NC_000006.12:g.150918577G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Lys300Arg	rs1163103180	missense variant	-	NC_000006.12:g.150918580A>G	gnomAD
MTHFD1L	B7ZM99	p.Val301Ile	rs901007927	missense variant	-	NC_000006.12:g.150918582G>A	TOPMed
MTHFD1L	B7ZM99	p.Gly302Trp	rs1393802287	missense variant	-	NC_000006.12:g.150918585G>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Cys303Ser	rs780431715	missense variant	-	NC_000006.12:g.150918588T>A	ExAC
MTHFD1L	B7ZM99	p.Gly304Val	rs755563858	missense variant	-	NC_000006.12:g.150918592G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ser305Phe	rs777139930	missense variant	-	NC_000006.12:g.150918595C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ser305Pro	rs1390659109	missense variant	-	NC_000006.12:g.150918594T>C	gnomAD
MTHFD1L	B7ZM99	p.Pro306Ser	rs190251947	missense variant	-	NC_000006.12:g.150918597C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro306Leu	rs1336525116	missense variant	-	NC_000006.12:g.150918598C>T	TOPMed
MTHFD1L	B7ZM99	p.Pro306Ala	rs190251947	missense variant	-	NC_000006.12:g.150918597C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.His309Arg	rs1340875129	missense variant	-	NC_000006.12:g.150918607A>G	gnomAD
MTHFD1L	B7ZM99	p.Phe310Leu	rs770360207	missense variant	-	NC_000006.12:g.150918611T>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly311Val	rs780943368	missense variant	-	NC_000006.12:g.150918613G>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly312Val	rs745544150	missense variant	-	NC_000006.12:g.150918616G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Leu313Pro	rs1208738220	missense variant	-	NC_000006.12:g.150918619T>C	gnomAD
MTHFD1L	B7ZM99	p.Ile314Phe	rs775477103	missense variant	-	NC_000006.12:g.150918621A>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile314Thr	rs762788269	missense variant	-	NC_000006.12:g.150918622T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile314Val	rs775477103	missense variant	-	NC_000006.12:g.150918621A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu316Gly	rs1257266984	missense variant	-	NC_000006.12:g.150918628A>G	gnomAD
MTHFD1L	B7ZM99	p.Asp317Gly	rs1425980424	missense variant	-	NC_000006.12:g.150918631A>G	gnomAD
MTHFD1L	B7ZM99	p.Asp318Gly	rs374371626	missense variant	-	NC_000006.12:g.150918634A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp318Asn	rs371885160	missense variant	-	NC_000006.12:g.150918633G>A	ESP,TOPMed
MTHFD1L	B7ZM99	p.Leu322Val	rs774161080	missense variant	-	NC_000006.12:g.150918645C>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala325Val	rs1013873394	missense variant	-	NC_000006.12:g.150918655C>T	gnomAD
MTHFD1L	B7ZM99	p.Arg327Ter	rs1310854015	stop gained	-	NC_000006.12:g.150918660C>T	gnomAD
MTHFD1L	B7ZM99	p.Arg327Gln	rs969380460	missense variant	-	NC_000006.12:g.150918661G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Met331Thr	rs773334285	missense variant	-	NC_000006.12:g.150922209T>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly335Glu	rs760878500	missense variant	-	NC_000006.12:g.150922221G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly335Val	rs760878500	missense variant	-	NC_000006.12:g.150922221G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg336Lys	rs1263146193	missense variant	-	NC_000006.12:g.150922224G>A	TOPMed
MTHFD1L	B7ZM99	p.Arg340Cys	rs766519360	missense variant	-	NC_000006.12:g.150922235C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg340His	rs999834288	missense variant	-	NC_000006.12:g.150922236G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln343Arg	rs754017330	missense variant	-	NC_000006.12:g.150922245A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln343Pro	rs754017330	missense variant	-	NC_000006.12:g.150922245A>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln343His	rs759894018	missense variant	-	NC_000006.12:g.150922246G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.His344Asp	rs567950016	missense variant	-	NC_000006.12:g.150922247C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg346Trp	rs536864868	missense variant	-	NC_000006.12:g.150922253C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg346Leu	rs1231450447	missense variant	-	NC_000006.12:g.150922254G>T	gnomAD
MTHFD1L	B7ZM99	p.Arg346Gln	rs1231450447	missense variant	-	NC_000006.12:g.150922254G>A	gnomAD
MTHFD1L	B7ZM99	p.Trp347Arg	rs74451809	missense variant	-	NC_000006.12:g.150922256T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Trp347Gly	rs74451809	missense variant	-	NC_000006.12:g.150922256T>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg348Ser	rs780837063	missense variant	-	NC_000006.12:g.150922261A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Cys351Phe	rs1465992328	missense variant	-	NC_000006.12:g.150922269G>T	gnomAD
MTHFD1L	B7ZM99	p.Cys351Arg	rs750021177	missense variant	-	NC_000006.12:g.150922268T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gln355Ter	rs1401208882	stop gained	-	NC_000006.12:g.150922280C>T	-
MTHFD1L	B7ZM99	p.Pro356Leu	rs1400340939	missense variant	-	NC_000006.12:g.150922284C>T	gnomAD
MTHFD1L	B7ZM99	p.Leu357Phe	rs775876412	missense variant	-	NC_000006.12:g.150922286C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val360Leu	rs779796264	missense variant	-	NC_000006.12:g.150922295G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val360Met	rs779796264	missense variant	-	NC_000006.12:g.150922295G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile364Val	rs968269167	missense variant	-	NC_000006.12:g.150926126A>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser367Ter	rs978685442	stop gained	-	NC_000006.12:g.150926136C>G	TOPMed
MTHFD1L	B7ZM99	p.Gln370His	rs367598413	missense variant	-	NC_000006.12:g.150926146A>C	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro372Ala	rs1229085674	missense variant	-	NC_000006.12:g.150926150C>G	gnomAD
MTHFD1L	B7ZM99	p.Ala374Ser	rs186968414	missense variant	-	NC_000006.12:g.150926156G>T	1000Genomes,TOPMed
MTHFD1L	B7ZM99	p.Val375Met	rs746978368	missense variant	-	NC_000006.12:g.150926159G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asp376Gly	rs61754784	missense variant	-	NC_000006.12:g.150926163A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp376Asn	rs867471007	missense variant	-	NC_000006.12:g.150926162G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Lys380Arg	rs145541103	missense variant	-	NC_000006.12:g.150926175A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu381Lys	rs370374961	missense variant	-	NC_000006.12:g.150926177G>A	ESP,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Glu381Gly	rs1200556159	missense variant	-	NC_000006.12:g.150926178A>G	TOPMed
MTHFD1L	B7ZM99	p.Ile382Phe	rs775785100	missense variant	-	NC_000006.12:g.150926180A>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile382Met	rs1419656655	missense variant	-	NC_000006.12:g.150926182T>G	gnomAD
MTHFD1L	B7ZM99	p.Ile382Thr	rs1182069042	missense variant	-	NC_000006.12:g.150926181T>C	gnomAD
MTHFD1L	B7ZM99	p.Gly383Val	rs1474022377	missense variant	-	NC_000006.12:g.150926184G>T	gnomAD
MTHFD1L	B7ZM99	p.Ile389Val	rs148879377	missense variant	-	NC_000006.12:g.150926201A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile391Thr	rs142684557	missense variant	-	NC_000006.12:g.150926208T>C	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Tyr392Ser	rs753350178	missense variant	-	NC_000006.12:g.150926211A>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Tyr392Asn	rs765895487	missense variant	-	NC_000006.12:g.150926210T>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Tyr392Cys	rs753350178	missense variant	-	NC_000006.12:g.150926211A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly393Ser	rs1214405509	missense variant	-	NC_000006.12:g.150926213G>A	TOPMed
MTHFD1L	B7ZM99	p.Lys396Gln	rs754517183	missense variant	-	NC_000006.12:g.150926222A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Lys398Arg	rs764736868	missense variant	-	NC_000006.12:g.150926229A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg400His	rs200840782	missense variant	-	NC_000006.12:g.150926235G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg400Cys	rs151023222	missense variant	-	NC_000006.12:g.150926234C>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val403Met	rs751475807	missense variant	-	NC_000006.12:g.150926243G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg406Thr	rs781328354	missense variant	-	NC_000006.12:g.150926253G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asp409Asn	rs1259367690	missense variant	-	NC_000006.12:g.150926261G>A	gnomAD
MTHFD1L	B7ZM99	p.Gln410Glu	rs1377476281	missense variant	-	NC_000006.12:g.150926264C>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp412Gly	rs746343699	missense variant	-	NC_000006.12:g.150926271A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp412Asn	rs1484464508	missense variant	-	NC_000006.12:g.150926270G>A	gnomAD
MTHFD1L	B7ZM99	p.Lys414Asn	rs1297649071	missense variant	-	NC_000006.12:g.150926278A>C	gnomAD
MTHFD1L	B7ZM99	p.Tyr415Cys	rs780375364	missense variant	-	NC_000006.12:g.150926280A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val416Ile	rs769113744	missense variant	-	NC_000006.12:g.150926282G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val416Gly	rs1415562590	missense variant	-	NC_000006.12:g.150926283T>G	gnomAD
MTHFD1L	B7ZM99	p.Val418Ile	rs1374057224	missense variant	-	NC_000006.12:g.150926288G>A	gnomAD
MTHFD1L	B7ZM99	p.Thr422Ser	rs769062583	missense variant	-	NC_000006.12:g.150936808A>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Thr422Ile	rs1216082685	missense variant	-	NC_000006.12:g.150936809C>T	gnomAD
MTHFD1L	B7ZM99	p.Leu426Pro	rs1454221965	missense variant	-	NC_000006.12:g.150936821T>C	gnomAD
MTHFD1L	B7ZM99	p.Ile435Ser	rs893396542	missense variant	-	NC_000006.12:g.150936848T>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile435Val	rs994223132	missense variant	-	NC_000006.12:g.150936847A>G	TOPMed
MTHFD1L	B7ZM99	p.Gly436Arg	rs772504344	missense variant	-	NC_000006.12:g.150936850G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val438Met	rs1391532390	missense variant	-	NC_000006.12:g.150936856G>A	gnomAD
MTHFD1L	B7ZM99	p.Gln439His	rs966166911	missense variant	-	NC_000006.12:g.150936861G>C	TOPMed
MTHFD1L	B7ZM99	p.Gln439Arg	rs1463144565	missense variant	-	NC_000006.12:g.150936860A>G	gnomAD
MTHFD1L	B7ZM99	p.Ala440Thr	rs1323982532	missense variant	-	NC_000006.12:g.150936862G>A	gnomAD
MTHFD1L	B7ZM99	p.Ala443Pro	rs769162434	missense variant	-	NC_000006.12:g.150936871G>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala443Ser	rs769162434	missense variant	-	NC_000006.12:g.150936871G>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala443Thr	rs769162434	missense variant	-	NC_000006.12:g.150936871G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala443Val	rs953153626	missense variant	-	NC_000006.12:g.150936872C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.His444Asn	rs763670576	missense variant	-	NC_000006.12:g.150936874C>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asn448Ser	rs767378904	missense variant	-	NC_000006.12:g.150936887A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn448Asp	rs753744433	missense variant	-	NC_000006.12:g.150936886A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Phe450Leu	rs1280262128	missense variant	-	NC_000006.12:g.150936892T>C	TOPMed
MTHFD1L	B7ZM99	p.Ala451Thr	rs750300124	missense variant	-	NC_000006.12:g.150936895G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly459Ala	rs756128526	missense variant	-	NC_000006.12:g.150936920G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Pro460Leu	rs146669423	missense variant	-	NC_000006.12:g.150936923C>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr461Met	rs755118470	missense variant	-	NC_000006.12:g.150936926C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly463Val	rs376651691	missense variant	-	NC_000006.12:g.150936932G>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly467Glu	rs372597629	missense variant	-	NC_000006.12:g.150938702G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala469Thr	rs1281458363	missense variant	-	NC_000006.12:g.150938707G>A	gnomAD
MTHFD1L	B7ZM99	p.Ala469Val	rs757632976	missense variant	-	NC_000006.12:g.150938708C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly470Ser	rs1279959660	missense variant	-	NC_000006.12:g.150938710G>A	gnomAD
MTHFD1L	B7ZM99	p.Gly471Asp	rs1481082991	missense variant	-	NC_000006.12:g.150938714G>A	gnomAD
MTHFD1L	B7ZM99	p.Gly472Arg	rs1281763114	missense variant	-	NC_000006.12:g.150938716G>A	TOPMed
MTHFD1L	B7ZM99	p.Tyr473Cys	rs746406626	missense variant	-	NC_000006.12:g.150938720A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val476Ile	rs1417192386	missense variant	-	NC_000006.12:g.150938728G>A	gnomAD
MTHFD1L	B7ZM99	p.Val476Ala	rs1177979376	missense variant	-	NC_000006.12:g.150938729T>C	gnomAD
MTHFD1L	B7ZM99	p.Ile477Val	rs768126317	missense variant	-	NC_000006.12:g.150938731A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Pro478Thr	rs1436429510	missense variant	-	NC_000006.12:g.150938734C>A	gnomAD
MTHFD1L	B7ZM99	p.Pro478Leu	rs773963293	missense variant	-	NC_000006.12:g.150938735C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Met479Ile	rs1347735605	missense variant	-	NC_000006.12:g.150938739G>A	TOPMed
MTHFD1L	B7ZM99	p.Met479Leu	rs1358157942	missense variant	-	NC_000006.12:g.150938737A>C	gnomAD
MTHFD1L	B7ZM99	p.Glu480Gly	rs1462199020	missense variant	-	NC_000006.12:g.150938741A>G	gnomAD
MTHFD1L	B7ZM99	p.Glu481Ter	rs1370596079	stop gained	-	NC_000006.12:g.150938743G>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu481Lys	rs1370596079	missense variant	-	NC_000006.12:g.150938743G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn483Asp	rs771500631	missense variant	-	NC_000006.12:g.150944489A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asn483His	rs771500631	missense variant	-	NC_000006.12:g.150944489A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Leu484Pro	rs777438425	missense variant	-	NC_000006.12:g.150944493T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile490Phe	rs1233914222	missense variant	-	NC_000006.12:g.150944510A>T	gnomAD
MTHFD1L	B7ZM99	p.Ile493Thr	rs776623457	missense variant	-	NC_000006.12:g.150944520T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile493Val	rs770824978	missense variant	-	NC_000006.12:g.150944519A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Thr494Ile	rs373263570	missense variant	-	NC_000006.12:g.150944523C>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala495Thr	rs982517091	missense variant	-	NC_000006.12:g.150944525G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn497Ser	rs769705393	missense variant	-	NC_000006.12:g.150944532A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala501Val	rs1238124308	missense variant	-	NC_000006.12:g.150944544C>T	TOPMed
MTHFD1L	B7ZM99	p.Ala503Val	rs376972964	missense variant	-	NC_000006.12:g.150944550C>T	1000Genomes,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala503Ser	rs751750277	missense variant	-	NC_000006.12:g.150944549G>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala503Thr	rs751750277	missense variant	-	NC_000006.12:g.150944549G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp505Asn	rs1346143465	missense variant	-	NC_000006.12:g.150944555G>A	gnomAD
MTHFD1L	B7ZM99	p.Thr506Met	rs558610992	missense variant	-	NC_000006.12:g.150944559C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg507Ser	rs1340066214	missense variant	-	NC_000006.12:g.150944563G>T	gnomAD
MTHFD1L	B7ZM99	p.His510Tyr	rs866519696	missense variant	-	NC_000006.12:g.150944570C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.His510Arg	rs1332835678	missense variant	-	NC_000006.12:g.150944571A>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr513Met	rs756478836	missense variant	-	NC_000006.12:g.150944580C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln514Arg	rs1317447125	missense variant	-	NC_000006.12:g.150944583A>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp516Val	rs1381426382	missense variant	-	NC_000006.12:g.150944589A>T	TOPMed
MTHFD1L	B7ZM99	p.Asp516Tyr	rs1396615198	missense variant	-	NC_000006.12:g.150944588G>T	TOPMed
MTHFD1L	B7ZM99	p.Asp516Glu	rs754328248	missense variant	-	NC_000006.12:g.150944590T>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala518Thr	rs373281795	missense variant	-	NC_000006.12:g.150945467G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala518Asp	rs751045689	missense variant	-	NC_000006.12:g.150945468C>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala518Val	rs751045689	missense variant	-	NC_000006.12:g.150945468C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Tyr520Cys	rs138249315	missense variant	-	NC_000006.12:g.150945474A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn521Ser	rs780943292	missense variant	-	NC_000006.12:g.150945477A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg522Gln	rs149625114	missense variant	-	NC_000006.12:g.150945480G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg522Trp	rs745485573	missense variant	-	NC_000006.12:g.150945479C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val524Gly	rs1356391083	missense variant	-	NC_000006.12:g.150945486T>G	gnomAD
MTHFD1L	B7ZM99	p.Pro525Ser	rs563045408	missense variant	-	NC_000006.12:g.150945488C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu526Phe	rs1234665514	missense variant	-	NC_000006.12:g.150945493A>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn528Ser	rs138991456	missense variant	-	NC_000006.12:g.150945498A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly529Asp	rs1004058082	missense variant	-	NC_000006.12:g.150945501G>A	TOPMed
MTHFD1L	B7ZM99	p.Val530Ile	rs774265480	missense variant	-	NC_000006.12:g.150945503G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg531Ser	rs1258112786	missense variant	-	NC_000006.12:g.150945508A>T	TOPMed
MTHFD1L	B7ZM99	p.Glu532Ala	rs748281067	missense variant	-	NC_000006.12:g.150945510A>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu532Gly	rs748281067	missense variant	-	NC_000006.12:g.150945510A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu535Ala	rs772113366	missense variant	-	NC_000006.12:g.150945519A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gln537His	rs1197302685	missense variant	-	NC_000006.12:g.150945526G>T	gnomAD
MTHFD1L	B7ZM99	p.Gln537Arg	rs1439109443	missense variant	-	NC_000006.12:g.150945525A>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu538His	rs1455098577	missense variant	-	NC_000006.12:g.150945528T>A	gnomAD
MTHFD1L	B7ZM99	p.Leu538Val	rs773458764	missense variant	-	NC_000006.12:g.150945527C>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu538Ile	rs773458764	missense variant	-	NC_000006.12:g.150945527C>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg540Trp	rs760762754	missense variant	-	NC_000006.12:g.150945533C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg540Gln	rs766782362	missense variant	-	NC_000006.12:g.150945534G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu541Val	rs776796293	missense variant	-	NC_000006.12:g.150945536C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Leu544Pro	rs1318851953	missense variant	-	NC_000006.12:g.150949035T>C	TOPMed
MTHFD1L	B7ZM99	p.Ile546Thr	rs1397781789	missense variant	-	NC_000006.12:g.150949041T>C	gnomAD
MTHFD1L	B7ZM99	p.Asn547Lys	rs148383692	missense variant	-	NC_000006.12:g.150949045T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn547Ile	rs759868328	missense variant	-	NC_000006.12:g.150949044A>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Pro551Ala	rs763504150	missense variant	-	NC_000006.12:g.150949055C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Pro551Arg	rs767147621	missense variant	-	NC_000006.12:g.150949056C>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro551Leu	rs767147621	missense variant	-	NC_000006.12:g.150949056C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr553Ala	rs201027728	missense variant	-	NC_000006.12:g.150949061A>G	1000Genomes
MTHFD1L	B7ZM99	p.Glu558Lys	rs147450268	missense variant	-	NC_000006.12:g.150949076G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val559Met	rs139875348	missense variant	-	NC_000006.12:g.150949079G>A	ESP,ExAC,TOPMed
MTHFD1L	B7ZM99	p.Val559Gly	rs1486067012	missense variant	-	NC_000006.12:g.150949080T>G	gnomAD
MTHFD1L	B7ZM99	p.Ser560Asn	rs143892636	missense variant	-	NC_000006.12:g.150949083G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Lys561Asn	rs1422192091	missense variant	-	NC_000006.12:g.150949087A>T	gnomAD
MTHFD1L	B7ZM99	p.Ala563Ser	rs754803780	missense variant	-	NC_000006.12:g.150949091G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg564Leu	rs61748674	missense variant	-	NC_000006.12:g.150949095G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg564Cys	rs200530931	missense variant	-	NC_000006.12:g.150949094C>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg564His	rs61748674	missense variant	-	NC_000006.12:g.150949095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp566His	rs367558632	missense variant	-	NC_000006.12:g.150949100G>C	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp566Asn	rs367558632	missense variant	-	NC_000006.12:g.150949100G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp568Asn	rs139147258	missense variant	-	NC_000006.12:g.150949106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser570Tyr	rs376707119	missense variant	-	NC_000006.12:g.150949113C>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser570Thr	rs1416017925	missense variant	-	NC_000006.12:g.150949112T>A	gnomAD
MTHFD1L	B7ZM99	p.Thr571Ala	rs775939118	missense variant	-	NC_000006.12:g.150949115A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile572Val	rs1331838835	missense variant	-	NC_000006.12:g.150949118A>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr573Met	rs149938963	missense variant	-	NC_000006.12:g.150949122C>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg576Lys	rs1387838107	missense variant	-	NC_000006.12:g.150949131G>A	TOPMed
MTHFD1L	B7ZM99	p.Val577Gly	rs748644198	missense variant	-	NC_000006.12:g.150955995T>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asp579Gly	rs770366046	missense variant	-	NC_000006.12:g.150956001A>G	ExAC
MTHFD1L	B7ZM99	p.Asp582Val	rs1026989463	missense variant	-	NC_000006.12:g.150956010A>T	TOPMed
MTHFD1L	B7ZM99	p.Arg583Gln	rs755133008	missense variant	-	NC_000006.12:g.150956013G>A	gnomAD
MTHFD1L	B7ZM99	p.Arg583Ter	rs776144453	stop gained	-	NC_000006.12:g.150956012C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu585Ile	rs1450484457	missense variant	-	NC_000006.12:g.150956018C>A	TOPMed
MTHFD1L	B7ZM99	p.Arg586Gln	rs775103323	missense variant	-	NC_000006.12:g.150956022G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg586Ter	rs543057137	stop gained	-	NC_000006.12:g.150956021C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr589Ile	rs1434522148	missense variant	-	NC_000006.12:g.150956031C>T	gnomAD
MTHFD1L	B7ZM99	p.Ile590Met	rs113806279	missense variant	-	NC_000006.12:g.150956035C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile590Val	rs144324867	missense variant	-	NC_000006.12:g.150956033A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly591Arg	rs746036989	missense variant	-	NC_000006.12:g.150956036G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly591Trp	rs746036989	missense variant	-	NC_000006.12:g.150956036G>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr595Ile	rs756248151	missense variant	-	NC_000006.12:g.150956049C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg601Pro	rs1326963233	missense variant	-	NC_000006.12:g.150956067G>C	gnomAD
MTHFD1L	B7ZM99	p.Arg601Trp	rs1344072575	missense variant	-	NC_000006.12:g.150956066C>T	TOPMed
MTHFD1L	B7ZM99	p.Gln602Lys	rs189412854	missense variant	-	NC_000006.12:g.150956069C>A	1000Genomes,ESP,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gln602Ter	rs189412854	stop gained	-	NC_000006.12:g.150956069C>T	1000Genomes,ESP,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala603Val	rs139952525	missense variant	-	NC_000006.12:g.150960276C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile607Val	rs569176356	missense variant	-	NC_000006.12:g.150960287A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala608Ser	rs115088610	missense variant	-	NC_000006.12:g.150960290G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala608Thr	rs115088610	missense variant	-	NC_000006.12:g.150960290G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val609Met	rs1434110394	missense variant	-	NC_000006.12:g.150960293G>A	gnomAD
MTHFD1L	B7ZM99	p.Ala610Val	rs773310385	missense variant	-	NC_000006.12:g.150960297C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu612Lys	rs1296657274	missense variant	-	NC_000006.12:g.150960302G>A	gnomAD
MTHFD1L	B7ZM99	p.Met614Leu	rs1292451271	missense variant	-	NC_000006.12:g.150960308A>C	TOPMed
MTHFD1L	B7ZM99	p.Ala615Val	rs202038463	missense variant	-	NC_000006.12:g.150960312C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val616Gly	rs759525027	missense variant	-	NC_000006.12:g.150960315T>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val616Met	rs1168211625	missense variant	-	NC_000006.12:g.150960314G>A	TOPMed
MTHFD1L	B7ZM99	p.Thr620Met	rs143492706	missense variant	-	NC_000006.12:g.150960327C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr620Ala	rs201748605	missense variant	-	NC_000006.12:g.150960326A>G	1000Genomes,ExAC
MTHFD1L	B7ZM99	p.Asp621Glu	rs1378030654	missense variant	-	NC_000006.12:g.150960331C>G	TOPMed
MTHFD1L	B7ZM99	p.Ser622Arg	rs1311725284	missense variant	-	NC_000006.12:g.150960334C>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala624Thr	rs1218331603	missense variant	-	NC_000006.12:g.150960338G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Met626Val	rs1284010100	missense variant	-	NC_000006.12:g.150960344A>G	gnomAD
MTHFD1L	B7ZM99	p.Met626Thr	rs752073749	missense variant	-	NC_000006.12:g.150960345T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala628Ser	rs150969919	missense variant	-	NC_000006.12:g.150960350G>T	ESP,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg629Trp	rs1458346270	missense variant	-	NC_000006.12:g.150960353C>T	TOPMed
MTHFD1L	B7ZM99	p.Arg629Gln	rs781662230	missense variant	-	NC_000006.12:g.150960354G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly631Glu	rs1472077823	missense variant	-	NC_000006.12:g.150960360G>A	gnomAD
MTHFD1L	B7ZM99	p.Val634Met	rs778664096	missense variant	-	NC_000006.12:g.150960368G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val634Leu	rs778664096	missense variant	-	NC_000006.12:g.150960368G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val635Met	rs1441857587	missense variant	-	NC_000006.12:g.150960371G>A	gnomAD
MTHFD1L	B7ZM99	p.Ala636Ser	rs913216296	missense variant	-	NC_000006.12:g.150960374G>T	gnomAD
MTHFD1L	B7ZM99	p.Ser640Asn	rs747712723	missense variant	-	NC_000006.12:g.150960387G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly641Trp	rs555776192	missense variant	-	NC_000006.12:g.150960389G>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly641Ala	rs771054163	missense variant	-	NC_000006.12:g.150960390G>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly641Arg	rs555776192	missense variant	-	NC_000006.12:g.150960389G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val644Met	rs1377555288	missense variant	-	NC_000006.12:g.150960398G>A	gnomAD
MTHFD1L	B7ZM99	p.Thr645Ala	rs1302017213	missense variant	-	NC_000006.12:g.150960401A>G	TOPMed
MTHFD1L	B7ZM99	p.Asp647Gly	rs370251078	missense variant	-	NC_000006.12:g.150960408A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val651Leu	rs993704731	missense variant	-	NC_000006.12:g.150964972G>T	TOPMed
MTHFD1L	B7ZM99	p.Thr652Ala	rs905212993	missense variant	-	NC_000006.12:g.150964975A>G	gnomAD
MTHFD1L	B7ZM99	p.Gly653Val	rs1322391609	missense variant	-	NC_000006.12:g.150964979G>T	TOPMed
MTHFD1L	B7ZM99	p.Ala654Val	rs1477833805	missense variant	-	NC_000006.12:g.150964982C>T	gnomAD
MTHFD1L	B7ZM99	p.Ala654Ser	rs1428575276	missense variant	-	NC_000006.12:g.150964981G>T	TOPMed
MTHFD1L	B7ZM99	p.Leu658Phe	rs1467098753	missense variant	-	NC_000006.12:g.150964995G>C	gnomAD
MTHFD1L	B7ZM99	p.Met659Val	rs1168517682	missense variant	-	NC_000006.12:g.150964996A>G	gnomAD
MTHFD1L	B7ZM99	p.Lys660Asn	rs762203674	missense variant	-	NC_000006.12:g.150965001A>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asp661Gly	rs1002236056	missense variant	-	NC_000006.12:g.150965003A>G	TOPMed
MTHFD1L	B7ZM99	p.Asp661His	rs1405680198	missense variant	-	NC_000006.12:g.150965002G>C	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp661Asn	rs1405680198	missense variant	-	NC_000006.12:g.150965002G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile663Met	rs767730985	missense variant	-	NC_000006.12:g.150965010A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Pro665Arg	rs750960396	missense variant	-	NC_000006.12:g.150965015C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Met668Arg	rs970957706	missense variant	-	NC_000006.12:g.150965024T>G	TOPMed
MTHFD1L	B7ZM99	p.Gly673Val	rs1480289503	missense variant	-	NC_000006.12:g.150971948G>T	TOPMed
MTHFD1L	B7ZM99	p.Pro675Ala	rs1247673239	missense variant	-	NC_000006.12:g.150971953C>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro675Thr	rs1247673239	missense variant	-	NC_000006.12:g.150971953C>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Phe677Val	rs761093504	missense variant	-	NC_000006.12:g.150971959T>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val678Met	rs754369611	missense variant	-	NC_000006.12:g.150971962G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.His679Gln	rs762586178	missense variant	-	NC_000006.12:g.150971967T>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala680Thr	rs1248058098	missense variant	-	NC_000006.12:g.150971968G>A	gnomAD
MTHFD1L	B7ZM99	p.Ala680Val	rs201334541	missense variant	-	NC_000006.12:g.150971969C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Phe683Ser	rs756792803	missense variant	-	NC_000006.12:g.150971978T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile686Val	rs780895264	missense variant	-	NC_000006.12:g.150971986A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.His688Gln	rs531256858	missense variant	-	NC_000006.12:g.150971994C>A	1000Genomes,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly689Arg	rs1418077230	missense variant	-	NC_000006.12:g.150971995G>C	gnomAD
MTHFD1L	B7ZM99	p.Asn690Ser	rs906264238	missense variant	-	NC_000006.12:g.150971999A>G	TOPMed
MTHFD1L	B7ZM99	p.Val693Glu	rs1381721937	missense variant	-	NC_000006.12:g.150972008T>A	gnomAD
MTHFD1L	B7ZM99	p.Val693Met	rs779893572	missense variant	-	NC_000006.12:g.150972007G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val693Leu	rs779893572	missense variant	-	NC_000006.12:g.150972007G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile698Val	rs200743393	missense variant	-	NC_000006.12:g.150972022A>G	1000Genomes
MTHFD1L	B7ZM99	p.Ala699Val	rs1372594604	missense variant	-	NC_000006.12:g.150972026C>T	TOPMed
MTHFD1L	B7ZM99	p.Leu700Val	rs778902192	missense variant	-	NC_000006.12:g.150972028C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val703Phe	rs150253908	missense variant	-	NC_000006.12:g.150972037G>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val703Ile	rs150253908	missense variant	-	NC_000006.12:g.150972037G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu712Lys	rs1199249309	missense variant	-	NC_000006.12:g.151009824G>A	gnomAD
MTHFD1L	B7ZM99	p.Ala713Thr	rs767011130	missense variant	-	NC_000006.12:g.151009827G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly714Asp	rs1456329428	missense variant	-	NC_000006.12:g.151009831G>A	gnomAD
MTHFD1L	B7ZM99	p.Gly716Ser	rs772760994	missense variant	-	NC_000006.12:g.151009836G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala717Val	rs1289938222	missense variant	-	NC_000006.12:g.151009840C>T	TOPMed
MTHFD1L	B7ZM99	p.Gly720Arg	rs753696678	missense variant	-	NC_000006.12:g.151009848G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Met721Thr	rs754750815	missense variant	-	NC_000006.12:g.151009852T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Glu722Val	rs765202916	missense variant	-	NC_000006.12:g.151009855A>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Phe725Val	rs1228953071	missense variant	-	NC_000006.12:g.151009863T>G	TOPMed
MTHFD1L	B7ZM99	p.Ile727Leu	rs1398739584	missense variant	-	NC_000006.12:g.151009869A>C	gnomAD
MTHFD1L	B7ZM99	p.Arg730Gln	rs570312042	missense variant	-	NC_000006.12:g.151009879G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg730Ter	rs1367076381	stop gained	-	NC_000006.12:g.151009878C>T	TOPMed
MTHFD1L	B7ZM99	p.Gly733Arg	rs539434475	missense variant	-	NC_000006.12:g.151009887G>C	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly733Ser	rs539434475	missense variant	-	NC_000006.12:g.151009887G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu734Phe	rs1282705649	missense variant	-	NC_000006.12:g.151009892G>C	gnomAD
MTHFD1L	B7ZM99	p.Val735Ala	rs770250806	missense variant	-	NC_000006.12:g.151009894T>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro736Ala	rs776170186	missense variant	-	NC_000006.12:g.151009896C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asn737Ile	rs202154575	missense variant	-	NC_000006.12:g.151009900A>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn737Thr	rs202154575	missense variant	-	NC_000006.12:g.151009900A>C	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn737Lys	rs771494677	missense variant	-	NC_000006.12:g.151009901C>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asn737Ser	rs202154575	missense variant	-	NC_000006.12:g.151009900A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val738Met	rs779539979	missense variant	-	NC_000006.12:g.151009902G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val740Met	rs772708574	missense variant	-	NC_000006.12:g.151009908G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val742Ala	rs377268290	missense variant	-	NC_000006.12:g.151009915T>C	ESP,TOPMed
MTHFD1L	B7ZM99	p.Arg746Gln	rs566588384	missense variant	-	NC_000006.12:g.151009927G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg746Ter	rs1477822591	stop gained	-	NC_000006.12:g.151009926C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Lys749Arg	rs1294497987	missense variant	-	NC_000006.12:g.151009936A>G	gnomAD
MTHFD1L	B7ZM99	p.Met750Ile	rs1205398128	missense variant	-	NC_000006.12:g.151009940G>A	TOPMed
MTHFD1L	B7ZM99	p.His751Leu	rs1309080136	missense variant	-	NC_000006.12:g.151009942A>T	TOPMed
MTHFD1L	B7ZM99	p.His751Arg	rs1309080136	missense variant	-	NC_000006.12:g.151009942A>G	TOPMed
MTHFD1L	B7ZM99	p.Gly754Val	rs1165895739	missense variant	-	NC_000006.12:g.151009951G>T	gnomAD
MTHFD1L	B7ZM99	p.Gly754Arg	rs139267961	missense variant	-	NC_000006.12:g.151009950G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly754Glu	rs1165895739	missense variant	-	NC_000006.12:g.151009951G>A	gnomAD
MTHFD1L	B7ZM99	p.Ser756Asn	rs1456574450	missense variant	-	NC_000006.12:g.151009957G>A	gnomAD
MTHFD1L	B7ZM99	p.Thr758Met	rs536470352	missense variant	-	NC_000006.12:g.151013783C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr758Ala	rs1418573534	missense variant	-	NC_000006.12:g.151013782A>G	gnomAD
MTHFD1L	B7ZM99	p.Gly760Asp	rs1353930821	missense variant	-	NC_000006.12:g.151013789G>A	gnomAD
MTHFD1L	B7ZM99	p.Val761Phe	rs1168077699	missense variant	-	NC_000006.12:g.151013791G>T	gnomAD
MTHFD1L	B7ZM99	p.Val761Gly	rs759135016	missense variant	-	NC_000006.12:g.151013792T>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Pro762Leu	rs1384860015	missense variant	-	NC_000006.12:g.151013795C>T	TOPMed
MTHFD1L	B7ZM99	p.Pro762Ser	rs769585298	missense variant	-	NC_000006.12:g.151013794C>T	ExAC
MTHFD1L	B7ZM99	p.Pro762Thr	rs769585298	missense variant	-	NC_000006.12:g.151013794C>A	ExAC
MTHFD1L	B7ZM99	p.Leu763Phe	rs1163405897	missense variant	-	NC_000006.12:g.151013797C>T	TOPMed
MTHFD1L	B7ZM99	p.Leu763Pro	rs556473256	missense variant	-	NC_000006.12:g.151013798T>C	1000Genomes,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Lys764Arg	rs751421713	missense variant	-	NC_000006.12:g.151013801A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Lys764Ter	rs764144149	stop gained	-	NC_000006.12:g.151013800A>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Tyr767His	rs1183328117	missense variant	-	NC_000006.12:g.151013809T>C	gnomAD
MTHFD1L	B7ZM99	p.Tyr767Cys	rs762014300	missense variant	-	NC_000006.12:g.151013810A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Thr768Ala	rs750687544	missense variant	-	NC_000006.12:g.151013812A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Glu770Ala	rs756336497	missense variant	-	NC_000006.12:g.151013819A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asn771Asp	rs1470045540	missense variant	-	NC_000006.12:g.151014880A>G	TOPMed
MTHFD1L	B7ZM99	p.Ala776Thr	rs779788799	missense variant	-	NC_000006.12:g.151014895G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asp777Tyr	rs748841435	missense variant	-	NC_000006.12:g.151014898G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly778Ser	rs1272436583	missense variant	-	NC_000006.12:g.151014901G>A	TOPMed
MTHFD1L	B7ZM99	p.Cys780Ser	rs774222537	missense variant	-	NC_000006.12:g.151014907T>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Cys780Tyr	rs1266864608	missense variant	-	NC_000006.12:g.151014908G>A	gnomAD
MTHFD1L	B7ZM99	p.Asn781Asp	rs1480114230	missense variant	-	NC_000006.12:g.151014910A>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln783His	rs1252763401	missense variant	-	NC_000006.12:g.151014918G>T	gnomAD
MTHFD1L	B7ZM99	p.Gln783Arg	rs1424193842	missense variant	-	NC_000006.12:g.151014917A>G	gnomAD
MTHFD1L	B7ZM99	p.Lys784Arg	rs1478781661	missense variant	-	NC_000006.12:g.151014920A>G	gnomAD
MTHFD1L	B7ZM99	p.Ile786Asn	rs921801253	missense variant	-	NC_000006.12:g.151014926T>A	TOPMed
MTHFD1L	B7ZM99	p.Gln787Glu	rs1442432240	missense variant	-	NC_000006.12:g.151014928C>G	TOPMed
MTHFD1L	B7ZM99	p.Thr789Ala	rs1405588960	missense variant	-	NC_000006.12:g.151014934A>G	gnomAD
MTHFD1L	B7ZM99	p.Leu791His	rs1410352107	missense variant	-	NC_000006.12:g.151014941T>A	TOPMed
MTHFD1L	B7ZM99	p.Phe792Leu	rs1363341710	missense variant	-	NC_000006.12:g.151014943T>C	gnomAD
MTHFD1L	B7ZM99	p.Phe792Ser	rs766327267	missense variant	-	NC_000006.12:g.151014944T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly793Ala	rs776928312	missense variant	-	NC_000006.12:g.151014947G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val794Ile	rs759612920	missense variant	-	NC_000006.12:g.151014949G>A	ExAC,TOPMed
MTHFD1L	B7ZM99	p.Pro795Ser	rs765496279	missense variant	-	NC_000006.12:g.151014952C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val796Phe	rs764625841	missense variant	-	NC_000006.12:g.151014955G>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val796Ala	rs752022496	missense variant	-	NC_000006.12:g.151014956T>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val796Ile	rs764625841	missense variant	-	NC_000006.12:g.151014955G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val797Met	rs1289793814	missense variant	-	NC_000006.12:g.151014958G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val797Leu	rs1289793814	missense variant	-	NC_000006.12:g.151014958G>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala799Pro	rs374447294	missense variant	-	NC_000006.12:g.151014964G>C	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala799Thr	rs374447294	missense variant	-	NC_000006.12:g.151014964G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala799Ser	rs374447294	missense variant	-	NC_000006.12:g.151014964G>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala799Val	rs1184670444	missense variant	-	NC_000006.12:g.151014965C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu800Pro	rs147116663	missense variant	-	NC_000006.12:g.151014968T>C	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Lys804Gln	rs748973240	missense variant	-	NC_000006.12:g.151014979A>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Lys804Arg	rs1372434560	missense variant	-	NC_000006.12:g.151014980A>G	gnomAD
MTHFD1L	B7ZM99	p.Asp806Asn	rs191699496	missense variant	-	NC_000006.12:g.151015520G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp806Gly	rs1435954444	missense variant	-	NC_000006.12:g.151015521A>G	TOPMed
MTHFD1L	B7ZM99	p.Arg808Cys	rs753346040	missense variant	-	NC_000006.12:g.151015526C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg808His	rs200271701	missense variant	-	NC_000006.12:g.151015527G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala809Thr	rs1403489543	missense variant	-	NC_000006.12:g.151015529G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala809Ser	rs1403489543	missense variant	-	NC_000006.12:g.151015529G>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile811Thr	rs752354150	missense variant	-	NC_000006.12:g.151015536T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile811Met	rs758287809	missense variant	-	NC_000006.12:g.151015537T>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val814Met	rs746818919	missense variant	-	NC_000006.12:g.151015544G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Cys815Tyr	rs1334223917	missense variant	-	NC_000006.12:g.151015548G>A	gnomAD
MTHFD1L	B7ZM99	p.Ala818Thr	rs770836139	missense variant	-	NC_000006.12:g.151015556G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala818Pro	rs770836139	missense variant	-	NC_000006.12:g.151015556G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg820Gln	rs552389460	missense variant	-	NC_000006.12:g.151015563G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg820Trp	rs893395870	missense variant	-	NC_000006.12:g.151015562C>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala821Gly	rs1460657050	missense variant	-	NC_000006.12:g.151015566C>G	gnomAD
MTHFD1L	B7ZM99	p.Gly822Ser	rs1179041034	missense variant	-	NC_000006.12:g.151015568G>A	gnomAD
MTHFD1L	B7ZM99	p.Ala826Thr	rs1010946073	missense variant	-	NC_000006.12:g.151015580G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val827Gly	rs61753800	missense variant	-	NC_000006.12:g.151015584T>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro828Arg	rs138287224	missense variant	-	NC_000006.12:g.151015587C>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Cys829Tyr	rs1471236248	missense variant	-	NC_000006.12:g.151015590G>A	gnomAD
MTHFD1L	B7ZM99	p.Tyr830Ter	rs1198819089	stop gained	-	NC_000006.12:g.151015594T>A	TOPMed
MTHFD1L	B7ZM99	p.Val834Gly	rs1466422065	missense variant	-	NC_000006.12:g.151015605T>G	gnomAD
MTHFD1L	B7ZM99	p.Val834Ile	rs750907361	missense variant	-	NC_000006.12:g.151015604G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly836Arg	rs759144791	missense variant	-	NC_000006.12:g.151015610G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ser839Leu	rs372067558	missense variant	-	NC_000006.12:g.151015620C>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser839Trp	rs372067558	missense variant	-	NC_000006.12:g.151015620C>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp841Gly	rs931206949	missense variant	-	NC_000006.12:g.151015626A>G	gnomAD
MTHFD1L	B7ZM99	p.Arg844Gln	rs777557719	missense variant	-	NC_000006.12:g.151015635G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg844Trp	rs758193909	missense variant	-	NC_000006.12:g.151015634C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg844Pro	rs777557719	missense variant	-	NC_000006.12:g.151015635G>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala845Ser	rs757045245	missense variant	-	NC_000006.12:g.151015637G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val846Leu	rs199745523	missense variant	-	NC_000006.12:g.151015640G>C	1000Genomes,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val846Ala	rs1332719481	missense variant	-	NC_000006.12:g.151015641T>C	TOPMed
MTHFD1L	B7ZM99	p.Arg847Ser	rs769877395	missense variant	-	NC_000006.12:g.151015645A>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg847Lys	rs745770392	missense variant	-	NC_000006.12:g.151015644G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala849Ser	rs780039204	missense variant	-	NC_000006.12:g.151015649G>T	ExAC,TOPMed
MTHFD1L	B7ZM99	p.Ala850Glu	rs35829704	missense variant	-	NC_000006.12:g.151015653C>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala850Val	rs35829704	missense variant	-	NC_000006.12:g.151015653C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala850Ser	rs1410727354	missense variant	-	NC_000006.12:g.151015652G>T	TOPMed
MTHFD1L	B7ZM99	p.Arg853Lys	rs772439169	missense variant	-	NC_000006.12:g.151015662G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ser854Asn	rs1213012245	missense variant	-	NC_000006.12:g.151015665G>A	gnomAD
MTHFD1L	B7ZM99	p.Ser854Gly	rs1481095048	missense variant	-	NC_000006.12:g.151015664A>G	gnomAD
MTHFD1L	B7ZM99	p.Arg855Gln	rs773611189	missense variant	-	NC_000006.12:g.151015668G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln857Ter	rs1210671338	stop gained	-	NC_000006.12:g.151015673C>T	TOPMed
MTHFD1L	B7ZM99	p.Asp861Asn	rs144276735	missense variant	-	NC_000006.12:g.151015685G>A	ESP,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val862Ala	rs766991962	missense variant	-	NC_000006.12:g.151015689T>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln863Arg	rs1486114068	missense variant	-	NC_000006.12:g.151015692A>G	gnomAD
MTHFD1L	B7ZM99	p.Val864Phe	rs753735204	missense variant	-	NC_000006.12:g.151034493G>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val864Leu	rs753735204	missense variant	-	NC_000006.12:g.151034493G>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile866Val	rs373771820	missense variant	-	NC_000006.12:g.151034499A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile866Thr	rs1175531623	missense variant	-	NC_000006.12:g.151034500T>C	gnomAD
MTHFD1L	B7ZM99	p.Val867Ala	rs377065684	missense variant	-	NC_000006.12:g.151034503T>C	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp868Gly	rs148480818	missense variant	-	NC_000006.12:g.151034506A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp868Val	rs148480818	missense variant	-	NC_000006.12:g.151034506A>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile870Met	rs148753409	missense variant	-	NC_000006.12:g.151034513A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg871Thr	rs576524414	missense variant	-	NC_000006.12:g.151034515G>C	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg871Lys	rs576524414	missense variant	-	NC_000006.12:g.151034515G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile873Thr	rs1424680139	missense variant	-	NC_000006.12:g.151034521T>C	TOPMed
MTHFD1L	B7ZM99	p.Ala874Val	rs142733823	missense variant	-	NC_000006.12:g.151034524C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gln875Arg	rs746321906	missense variant	-	NC_000006.12:g.151034527A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala876Val	rs768058629	missense variant	-	NC_000006.12:g.151034530C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala876Thr	rs1223599270	missense variant	-	NC_000006.12:g.151034529G>A	gnomAD
MTHFD1L	B7ZM99	p.Val877Ile	rs773979807	missense variant	-	NC_000006.12:g.151034532G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Tyr878Asn	rs761212799	missense variant	-	NC_000006.12:g.151034535T>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala880Thr	rs1274207448	missense variant	-	NC_000006.12:g.151034541G>A	gnomAD
MTHFD1L	B7ZM99	p.Lys881Arg	rs767245924	missense variant	-	NC_000006.12:g.151034545A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile883Thr	rs558815478	missense variant	-	NC_000006.12:g.151034551T>C	1000Genomes,ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile883Phe	rs942818423	missense variant	-	NC_000006.12:g.151034550A>T	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile883Val	rs942818423	missense variant	-	NC_000006.12:g.151034550A>G	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu884Gln	rs1038824021	missense variant	-	NC_000006.12:g.151034553G>C	TOPMed
MTHFD1L	B7ZM99	p.Leu885Val	rs760490125	missense variant	-	NC_000006.12:g.151034556C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ser886Cys	rs753786210	missense variant	-	NC_000006.12:g.151034560C>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser886Phe	rs753786210	missense variant	-	NC_000006.12:g.151034560C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Pro887Arg	rs765079079	missense variant	-	NC_000006.12:g.151034563C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala891Val	rs752872364	missense variant	-	NC_000006.12:g.151034575C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala891Gly	rs752872364	missense variant	-	NC_000006.12:g.151034575C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asp894Tyr	rs778171987	missense variant	-	NC_000006.12:g.151034583G>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Asp894His	rs778171987	missense variant	-	NC_000006.12:g.151034583G>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Arg895Ser	rs377525704	missense variant	-	NC_000006.12:g.151034586C>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg895His	rs781637834	missense variant	-	NC_000006.12:g.151034587G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg895Cys	rs377525704	missense variant	-	NC_000006.12:g.151034586C>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg895Gly	rs377525704	missense variant	-	NC_000006.12:g.151034586C>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Tyr896Cys	rs770387415	missense variant	-	NC_000006.12:g.151034590A>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Thr897Ala	rs780400186	missense variant	-	NC_000006.12:g.151034592A>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr897Asn	rs1408148784	missense variant	-	NC_000006.12:g.151034593C>A	TOPMed
MTHFD1L	B7ZM99	p.Gln899Ter	rs1341826665	stop gained	-	NC_000006.12:g.151034598C>T	gnomAD
MTHFD1L	B7ZM99	p.Gly900Asp	rs1383018034	missense variant	-	NC_000006.12:g.151036966G>A	gnomAD
MTHFD1L	B7ZM99	p.Gly902Arg	rs1456921376	missense variant	-	NC_000006.12:g.151036971G>A	gnomAD
MTHFD1L	B7ZM99	p.Ile906Val	rs1299161508	missense variant	-	NC_000006.12:g.151036983A>G	TOPMed
MTHFD1L	B7ZM99	p.His912Asp	rs770625572	missense variant	-	NC_000006.12:g.151037001C>G	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Lys921Thr	rs1423897415	missense variant	-	NC_000006.12:g.151037029A>C	TOPMed
MTHFD1L	B7ZM99	p.Gly923Ser	rs1239813978	missense variant	-	NC_000006.12:g.151037034G>A	gnomAD
MTHFD1L	B7ZM99	p.Asp927Glu	rs143439211	missense variant	-	NC_000006.12:g.151037048C>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp927Tyr	rs1203386601	missense variant	-	NC_000006.12:g.151037046G>T	gnomAD
MTHFD1L	B7ZM99	p.Ile929Val	rs948017845	missense variant	-	NC_000006.12:g.151037052A>G	TOPMed
MTHFD1L	B7ZM99	p.Pro931Thr	rs191040014	missense variant	-	NC_000006.12:g.151037058C>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser933Ile	rs368758631	missense variant	-	NC_000006.12:g.151037065G>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ser933Asn	rs368758631	missense variant	-	NC_000006.12:g.151037065G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp934Glu	rs772567872	missense variant	-	NC_000006.12:g.151037069C>G	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val935Ile	rs1181872885	missense variant	-	NC_000006.12:g.151037070G>A	TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg936Gln	rs139088932	missense variant	-	NC_000006.12:g.151037074G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Arg936Trp	rs552580428	missense variant	-	NC_000006.12:g.151037073C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala937Asp	rs775719972	missense variant	-	NC_000006.12:g.151037077C>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala937Val	rs775719972	missense variant	-	NC_000006.12:g.151037077C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ser938Gly	rs1355022982	missense variant	-	NC_000006.12:g.151037079A>G	TOPMed
MTHFD1L	B7ZM99	p.Ile939Thr	rs115732448	missense variant	-	NC_000006.12:g.151037083T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ile939Val	rs1471132929	missense variant	-	NC_000006.12:g.151037082A>G	gnomAD
MTHFD1L	B7ZM99	p.Gly940Asp	rs114123717	missense variant	-	NC_000006.12:g.151037086G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Ala941Thr	rs142116222	missense variant	-	NC_000006.12:g.151037088G>A	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ala941Ser	rs142116222	missense variant	-	NC_000006.12:g.151037088G>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Leu947Ser	rs768766295	missense variant	-	NC_000006.12:g.151037107T>C	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Leu947Met	rs775218945	missense variant	-	NC_000006.12:g.151037106T>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Gly949Arg	rs760351758	missense variant	-	NC_000006.12:g.151037112G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr950Lys	rs766004107	missense variant	-	NC_000006.12:g.151037116C>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr950Met	rs766004107	missense variant	-	NC_000006.12:g.151037116C>T	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Met951Ile	rs758180303	missense variant	-	NC_000006.12:g.151092469G>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr953Asn	rs777595295	missense variant	-	NC_000006.12:g.151092474C>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gly956Arg	rs1440901502	missense variant	-	NC_000006.12:g.151092482G>A	gnomAD
MTHFD1L	B7ZM99	p.Leu957Met	rs773244330	missense variant	-	NC_000006.12:g.151092485C>A	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Thr959Ile	rs1244146873	missense variant	-	NC_000006.12:g.151092492C>T	gnomAD
MTHFD1L	B7ZM99	p.Arg960Gly	rs1233674190	missense variant	-	NC_000006.12:g.151092494C>G	gnomAD
MTHFD1L	B7ZM99	p.Pro961His	rs1367181116	missense variant	-	NC_000006.12:g.151092498C>A	TOPMed
MTHFD1L	B7ZM99	p.Cys962Tyr	rs1380757070	missense variant	-	NC_000006.12:g.151092501G>A	TOPMed
MTHFD1L	B7ZM99	p.Tyr964Phe	rs745938830	missense variant	-	NC_000006.12:g.151092507A>T	ExAC
MTHFD1L	B7ZM99	p.Asp965Glu	rs375263198	missense variant	-	NC_000006.12:g.151092511C>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile966Thr	rs775661644	missense variant	-	NC_000006.12:g.151092513T>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Ile966Val	rs1294227682	missense variant	-	NC_000006.12:g.151092512A>G	TOPMed
MTHFD1L	B7ZM99	p.Asp967Glu	rs1364225813	missense variant	-	NC_000006.12:g.151092517T>A	TOPMed
MTHFD1L	B7ZM99	p.Leu968Ile	rs1409615714	missense variant	-	NC_000006.12:g.151092518C>A	gnomAD
MTHFD1L	B7ZM99	p.Asp969Asn	rs200722924	missense variant	-	NC_000006.12:g.151092521G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Asp969His	rs200722924	missense variant	-	NC_000006.12:g.151092521G>C	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Glu971Lys	rs774732029	missense variant	-	NC_000006.12:g.151092527G>A	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Gln974Ter	rs762309552	stop gained	-	NC_000006.12:g.151092536C>T	ExAC,gnomAD
MTHFD1L	B7ZM99	p.Val975Leu	rs768130949	missense variant	-	NC_000006.12:g.151092539G>C	ExAC,TOPMed,gnomAD
MTHFD1L	B7ZM99	p.Val975Ala	rs1382707860	missense variant	-	NC_000006.12:g.151092540T>C	gnomAD
MTHFD1L	B7ZM99	p.Gly977Ala	rs776338297	missense variant	-	NC_000006.12:g.151092546G>C	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ala5Ser	rs775292637	missense variant	-	NC_000008.11:g.98948965G>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ala5Thr	rs775292637	missense variant	-	NC_000008.11:g.98948965G>A	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ala5Asp	rs1243561243	missense variant	-	NC_000008.11:g.98948966C>A	gnomAD
OSR2	E5RH04	p.Ala8Glu	rs760460092	missense variant	-	NC_000008.11:g.98948975C>A	ExAC
OSR2	E5RH04	p.Pro9Ser	rs1284390401	missense variant	-	NC_000008.11:g.98948977C>T	TOPMed
OSR2	E5RH04	p.Leu12Arg	rs1305205765	missense variant	-	NC_000008.11:g.98948987T>G	TOPMed
OSR2	E5RH04	p.His13Gln	rs753520223	missense variant	-	NC_000008.11:g.98948991C>A	ExAC,gnomAD
OSR2	E5RH04	p.Pro14Arg	rs764701063	missense variant	-	NC_000008.11:g.98948993C>G	ExAC,gnomAD
OSR2	E5RH04	p.Pro14Ala	rs756940497	missense variant	-	NC_000008.11:g.98948992C>G	ExAC,gnomAD
OSR2	E5RH04	p.Pro14Gln	rs764701063	missense variant	-	NC_000008.11:g.98948993C>A	ExAC,gnomAD
OSR2	E5RH04	p.Pro14Leu	rs764701063	missense variant	-	NC_000008.11:g.98948993C>T	ExAC,gnomAD
OSR2	E5RH04	p.Ser15Leu	rs1411952759	missense variant	-	NC_000008.11:g.98948996C>T	TOPMed,gnomAD
OSR2	E5RH04	p.Gln17Pro	rs1432874503	missense variant	-	NC_000008.11:g.98949002A>C	TOPMed
OSR2	E5RH04	p.Asn20Asp	rs753161883	missense variant	-	NC_000008.11:g.98949010A>G	ExAC,gnomAD
OSR2	E5RH04	p.Asn20Ser	rs1435133504	missense variant	-	NC_000008.11:g.98949011A>G	TOPMed
OSR2	E5RH04	p.Tyr21His	rs756489836	missense variant	-	NC_000008.11:g.98949013T>C	ExAC,gnomAD
OSR2	E5RH04	p.Tyr21Phe	rs778066542	missense variant	-	NC_000008.11:g.98949014A>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Val27Met	rs1299697317	missense variant	-	NC_000008.11:g.98949031G>A	gnomAD
OSR2	E5RH04	p.Phe30Leu	rs1395100653	missense variant	-	NC_000008.11:g.98949042C>G	TOPMed,gnomAD
OSR2	E5RH04	p.Phe30Cys	rs771329866	missense variant	-	NC_000008.11:g.98949041T>G	ExAC,gnomAD
OSR2	E5RH04	p.Ala32Thr	rs1336392483	missense variant	-	NC_000008.11:g.98949046G>A	gnomAD
OSR2	E5RH04	p.Thr33Lys	rs1187164935	missense variant	-	NC_000008.11:g.98949050C>A	TOPMed
OSR2	E5RH04	p.Val34Leu	rs1476699611	missense variant	-	NC_000008.11:g.98949052G>T	TOPMed
OSR2	E5RH04	p.His36Gln	rs1261695769	missense variant	-	NC_000008.11:g.98949060C>G	TOPMed
OSR2	E5RH04	p.Leu37Val	rs1216238950	missense variant	-	NC_000008.11:g.98949061C>G	TOPMed,gnomAD
OSR2	E5RH04	p.Tyr41His	rs369633987	missense variant	-	NC_000008.11:g.98949073T>C	ESP,ExAC,gnomAD
OSR2	E5RH04	p.Gly42Ser	rs986764105	missense variant	-	NC_000008.11:g.98949076G>A	gnomAD
OSR2	E5RH04	p.Ser44Asn	rs775484346	missense variant	-	NC_000008.11:g.98949083G>A	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ser44Ile	rs775484346	missense variant	-	NC_000008.11:g.98949083G>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Val46Glu	rs1259873860	missense variant	-	NC_000008.11:g.98949089T>A	gnomAD
OSR2	E5RH04	p.Val46Ala	rs1259873860	missense variant	-	NC_000008.11:g.98949089T>C	gnomAD
OSR2	E5RH04	p.His50Asn	rs1476917342	missense variant	-	NC_000008.11:g.98949100C>A	TOPMed,gnomAD
OSR2	E5RH04	p.Met51Ile	rs1424370627	missense variant	-	NC_000008.11:g.98949105G>T	gnomAD
OSR2	E5RH04	p.Asn52Lys	rs892278064	missense variant	-	NC_000008.11:g.98949108C>A	TOPMed
OSR2	E5RH04	p.His53Arg	rs776337630	missense variant	-	NC_000008.11:g.98949110A>G	ExAC,gnomAD
OSR2	E5RH04	p.Trp54Arg	rs1172373635	missense variant	-	NC_000008.11:g.98949112T>C	gnomAD
OSR2	E5RH04	p.Thr55Lys	rs761616202	missense variant	-	NC_000008.11:g.98949116C>A	ExAC,gnomAD
OSR2	E5RH04	p.Gly57Ala	rs1313173298	missense variant	-	NC_000008.11:g.98949122G>C	TOPMed,gnomAD
OSR2	E5RH04	p.Gly57Glu	rs1313173298	missense variant	-	NC_000008.11:g.98949122G>A	TOPMed,gnomAD
OSR2	E5RH04	p.Pro59Ala	rs750082371	missense variant	-	NC_000008.11:g.98949127C>G	ExAC,gnomAD
OSR2	E5RH04	p.Asn60Ser	rs372295284	missense variant	-	NC_000008.11:g.98949131A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Glu63Lys	rs528132309	missense variant	-	NC_000008.11:g.98949139G>A	1000Genomes,ExAC,gnomAD
OSR2	E5RH04	p.Glu63Asp	rs756619415	missense variant	-	NC_000008.11:g.98949141G>C	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Arg66Ser	rs1312049742	missense variant	-	NC_000008.11:g.98949148C>A	TOPMed,gnomAD
OSR2	E5RH04	p.Arg66Cys	rs1312049742	missense variant	-	NC_000008.11:g.98949148C>T	TOPMed,gnomAD
OSR2	E5RH04	p.Arg66His	rs961492568	missense variant	-	NC_000008.11:g.98949149G>A	gnomAD
OSR2	E5RH04	p.Ile69Asn	rs778179403	missense variant	-	NC_000008.11:g.98949158T>A	ExAC,gnomAD
OSR2	E5RH04	p.Glu71Lys	rs1475819080	missense variant	-	NC_000008.11:g.98949163G>A	TOPMed
OSR2	E5RH04	p.Ala73Val	rs772187871	missense variant	-	NC_000008.11:g.98949170C>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ala73Thr	rs200350755	missense variant	-	NC_000008.11:g.98949169G>A	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ala74Val	rs780034291	missense variant	-	NC_000008.11:g.98949173C>T	ExAC,gnomAD
OSR2	E5RH04	p.Ala75Val	rs768426368	missense variant	-	NC_000008.11:g.98949176C>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ala75Gly	rs768426368	missense variant	-	NC_000008.11:g.98949176C>G	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ala75Pro	rs746939319	missense variant	-	NC_000008.11:g.98949175G>C	ExAC
OSR2	E5RH04	p.Gln76Arg	rs1173999770	missense variant	-	NC_000008.11:g.98949179A>G	gnomAD
OSR2	E5RH04	p.Gln76Glu	rs1432430594	missense variant	-	NC_000008.11:g.98949178C>G	gnomAD
OSR2	E5RH04	p.Gln76His	rs547964746	missense variant	-	NC_000008.11:g.98949180G>C	1000Genomes,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Gly77Ser	rs772842012	missense variant	-	NC_000008.11:g.98949181G>A	ExAC,gnomAD
OSR2	E5RH04	p.Leu78His	rs1345279687	missense variant	-	NC_000008.11:g.98949185T>A	gnomAD
OSR2	E5RH04	p.Val79Ala	rs1273646198	missense variant	-	NC_000008.11:g.98949188T>C	gnomAD
OSR2	E5RH04	p.Val79Gly	rs1273646198	missense variant	-	NC_000008.11:g.98949188T>G	gnomAD
OSR2	E5RH04	p.Ala81Thr	rs1247882502	missense variant	-	NC_000008.11:g.98949193G>A	TOPMed,gnomAD
OSR2	E5RH04	p.Ala81Val	rs751081954	missense variant	-	NC_000008.11:g.98949194C>T	ExAC,gnomAD
OSR2	E5RH04	p.Arg82His	rs764440992	missense variant	-	NC_000008.11:g.98949197G>A	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Arg82Gly	rs1351885456	missense variant	-	NC_000008.11:g.98949196C>G	gnomAD
OSR2	E5RH04	p.Pro84Ala	rs377034097	missense variant	-	NC_000008.11:g.98949202C>G	ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Pro84Ser	rs377034097	missense variant	-	NC_000008.11:g.98949202C>T	ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Pro86Arg	rs201438766	missense variant	-	NC_000008.11:g.98949209C>G	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Pro86Leu	rs201438766	missense variant	-	NC_000008.11:g.98949209C>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Leu94Pro	rs61744135	missense variant	-	NC_000008.11:g.98949233T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Phe95Leu	rs755092691	missense variant	-	NC_000008.11:g.98949237C>G	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Pro97Ser	rs937683594	missense variant	-	NC_000008.11:g.98949241C>T	TOPMed,gnomAD
OSR2	E5RH04	p.Gly100Val	rs1321043428	missense variant	-	NC_000008.11:g.98949251G>T	TOPMed,gnomAD
OSR2	E5RH04	p.Ala101Val	rs769577107	missense variant	-	NC_000008.11:g.98949254C>T	ExAC,gnomAD
OSR2	E5RH04	p.His104Asp	rs770443927	missense variant	-	NC_000008.11:g.98949262C>G	ExAC,gnomAD
OSR2	E5RH04	p.Val105Ile	rs372847306	missense variant	-	NC_000008.11:g.98949265G>A	ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Val105Phe	rs372847306	missense variant	-	NC_000008.11:g.98949265G>T	ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Val105Leu	rs372847306	missense variant	-	NC_000008.11:g.98949265G>C	ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ala108Val	rs777273417	missense variant	-	NC_000008.11:g.98949275C>T	ExAC,gnomAD
OSR2	E5RH04	p.Ala108Thr	rs1289273506	missense variant	-	NC_000008.11:g.98949274G>A	gnomAD
OSR2	E5RH04	p.Leu109Arg	rs762449769	missense variant	-	NC_000008.11:g.98949278T>G	ExAC,gnomAD
OSR2	E5RH04	p.Arg113Gln	rs750763453	missense variant	-	NC_000008.11:g.98949290G>A	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Asn120Ser	rs1318465600	missense variant	-	NC_000008.11:g.98949311A>G	gnomAD
OSR2	E5RH04	p.Thr126Lys	rs751822223	missense variant	-	NC_000008.11:g.98949329C>A	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Thr126Met	rs751822223	missense variant	-	NC_000008.11:g.98949329C>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Glu128Gly	rs748047740	missense variant	-	NC_000008.11:g.98949335A>G	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Glu128Gln	rs904037691	missense variant	-	NC_000008.11:g.98949334G>C	TOPMed,gnomAD
OSR2	E5RH04	p.Glu128Asp	rs202146539	missense variant	-	NC_000008.11:g.98949336G>C	1000Genomes,ExAC,gnomAD
OSR2	E5RH04	p.Glu128Lys	rs904037691	missense variant	-	NC_000008.11:g.98949334G>A	TOPMed,gnomAD
OSR2	E5RH04	p.Pro130Leu	rs777711530	missense variant	-	NC_000008.11:g.98949341C>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Pro130Ala	rs1317194746	missense variant	-	NC_000008.11:g.98949340C>G	gnomAD
OSR2	E5RH04	p.Met133Thr	rs1457782197	missense variant	-	NC_000008.11:g.98949350T>C	TOPMed
OSR2	E5RH04	p.Leu136Val	rs565937883	missense variant	-	NC_000008.11:g.98949358C>G	1000Genomes,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ser140Asn	rs1335632868	missense variant	-	NC_000008.11:g.98949371G>A	gnomAD
OSR2	E5RH04	p.Pro141Ser	rs745600616	missense variant	-	NC_000008.11:g.98949373C>T	ExAC,gnomAD
OSR2	E5RH04	p.Pro141Leu	rs771677275	missense variant	-	NC_000008.11:g.98949374C>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ser148Thr	rs1319113610	missense variant	-	NC_000008.11:g.98949394T>A	gnomAD
OSR2	E5RH04	p.Leu150Ile	rs1439268470	missense variant	-	NC_000008.11:g.98949400C>A	gnomAD
OSR2	E5RH04	p.Ser151Gly	rs760280517	missense variant	-	NC_000008.11:g.98949403A>G	ExAC,gnomAD
OSR2	E5RH04	p.Ser151Arg	rs1207156340	missense variant	-	NC_000008.11:g.98949405T>G	gnomAD
OSR2	E5RH04	p.Leu153Val	rs535058558	missense variant	-	NC_000008.11:g.98949409T>G	1000Genomes,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Pro155Gln	rs373472912	missense variant	-	NC_000008.11:g.98949416C>A	ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Pro155Ala	rs773771031	missense variant	-	NC_000008.11:g.98949415C>G	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Pro155Leu	rs373472912	missense variant	-	NC_000008.11:g.98949416C>T	ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Pro159Ser	rs200456742	missense variant	-	NC_000008.11:g.98949427C>T	ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Arg161Gln	rs751730409	missense variant	-	NC_000008.11:g.98949434G>A	ExAC,gnomAD
OSR2	E5RH04	p.Gly162Val	rs767562127	missense variant	-	NC_000008.11:g.98949437G>T	ExAC,gnomAD
OSR2	E5RH04	p.Gly162Glu	rs767562127	missense variant	-	NC_000008.11:g.98949437G>A	ExAC,gnomAD
OSR2	E5RH04	p.Thr168Met	rs769169543	missense variant	-	NC_000008.11:g.98949455C>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Thr168Arg	rs769169543	missense variant	-	NC_000008.11:g.98949455C>G	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ile173Thr	rs1251808840	missense variant	-	NC_000008.11:g.98949470T>C	gnomAD
OSR2	E5RH04	p.His180Asn	rs1420666642	missense variant	-	NC_000008.11:g.98949490C>A	gnomAD
OSR2	E5RH04	p.His180Arg	rs1299274049	missense variant	-	NC_000008.11:g.98949491A>G	TOPMed
OSR2	E5RH04	p.Glu191Gln	rs1477171778	missense variant	-	NC_000008.11:g.98949523G>C	gnomAD
OSR2	E5RH04	p.Asp196Asn	rs574548072	missense variant	-	NC_000008.11:g.98949538G>A	1000Genomes,ExAC,gnomAD
OSR2	E5RH04	p.Thr201Pro	rs773582439	missense variant	-	NC_000008.11:g.98949553A>C	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Thr201Ala	rs773582439	missense variant	-	NC_000008.11:g.98949553A>G	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Thr201Met	rs763588260	missense variant	-	NC_000008.11:g.98949554C>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ile204Thr	rs1382832096	missense variant	-	NC_000008.11:g.98949563T>C	gnomAD
OSR2	E5RH04	p.Arg219Lys	rs376720519	missense variant	-	NC_000008.11:g.98949608G>A	ESP,ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Tyr220His	rs983224651	missense variant	-	NC_000008.11:g.98950657T>C	TOPMed
OSR2	E5RH04	p.Ile221Thr	rs1306696802	missense variant	-	NC_000008.11:g.98950661T>C	TOPMed,gnomAD
OSR2	E5RH04	p.Lys224Arg	rs1239268483	missense variant	-	NC_000008.11:g.98950670A>G	gnomAD
OSR2	E5RH04	p.Glu225Gln	rs1168388499	missense variant	-	NC_000008.11:g.98950672G>C	TOPMed
OSR2	E5RH04	p.Lys226Thr	rs576616277	missense variant	-	NC_000008.11:g.98950676A>C	1000Genomes
OSR2	E5RH04	p.Phe228Tyr	rs746165433	missense variant	-	NC_000008.11:g.98950682T>A	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Gln231Arg	rs772441797	missense variant	-	NC_000008.11:g.98950691A>G	ExAC,gnomAD
OSR2	E5RH04	p.Phe237Leu	rs1470144624	missense variant	-	NC_000008.11:g.98950710T>A	gnomAD
OSR2	E5RH04	p.Leu249Ser	rs760925631	missense variant	-	NC_000008.11:g.98950745T>C	ExAC,gnomAD
OSR2	E5RH04	p.Met251Lys	rs764058294	missense variant	-	NC_000008.11:g.98950751T>A	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Met251Thr	rs764058294	missense variant	-	NC_000008.11:g.98950751T>C	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Gln252Leu	rs776723636	missense variant	-	NC_000008.11:g.98950754A>T	ExAC,gnomAD
OSR2	E5RH04	p.Leu255Trp	rs907607707	missense variant	-	NC_000008.11:g.98950763T>G	TOPMed
OSR2	E5RH04	p.Phe256Leu	rs1288082159	missense variant	-	NC_000008.11:g.98950765T>C	gnomAD
OSR2	E5RH04	p.Phe256Leu	rs765151195	missense variant	-	NC_000008.11:g.98950767T>G	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Ser257Pro	rs750395595	missense variant	-	NC_000008.11:g.98950768T>C	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Cys258Ser	rs758251205	missense variant	-	NC_000008.11:g.98950772G>C	ExAC,gnomAD
OSR2	E5RH04	p.Leu259Val	rs766346238	missense variant	-	NC_000008.11:g.98950774T>G	ExAC,gnomAD
OSR2	E5RH04	p.Leu259Phe	rs751229756	missense variant	-	NC_000008.11:g.98950776A>T	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Leu259Ser	rs1040445552	missense variant	-	NC_000008.11:g.98950775T>C	TOPMed
OSR2	E5RH04	p.Thr261Ala	rs754731120	missense variant	-	NC_000008.11:g.98950780A>G	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Thr261Pro	rs754731120	missense variant	-	NC_000008.11:g.98950780A>C	ExAC,TOPMed,gnomAD
OSR2	E5RH04	p.Val262Leu	rs921588421	missense variant	-	NC_000008.11:g.98950783G>C	TOPMed
OSR2	E5RH04	p.Cys266Tyr	rs539576209	missense variant	-	NC_000008.11:g.98950796G>A	1000Genomes,gnomAD
OSR2	E5RH04	p.Cys270Arg	rs1049953725	missense variant	-	NC_000008.11:g.98950807T>C	TOPMed
OSR2	E5RH04	p.Val275Ile	rs747655032	missense variant	-	NC_000008.11:g.98950822G>A	ExAC,gnomAD
OSR2	E5RH04	p.TrpGln277Ter	rs1274391791	stop gained	-	NC_000008.11:g.98950830_98950831del	gnomAD
OSR2	E5RH04	p.Ser281Tyr	rs1179243823	missense variant	-	NC_000008.11:g.98950841C>A	gnomAD
OSR2	E5RH04	p.Leu282Pro	rs1329230777	missense variant	-	NC_000008.11:g.98950844T>C	TOPMed
OSR2	E5RH04	p.Arg284Ser	rs1474949782	missense variant	-	NC_000008.11:g.98950851G>C	TOPMed,gnomAD
OSR2	E5RH04	p.Arg284Gly	rs1254320384	missense variant	-	NC_000008.11:g.98950849A>G	gnomAD
OSR2	E5RH04	p.Leu285Phe	rs552894752	missense variant	-	NC_000008.11:g.98950852C>T	1000Genomes,ExAC,gnomAD
OSR2	E5RH04	p.Tyr286Phe	rs1420067989	missense variant	-	NC_000008.11:g.98950856A>T	gnomAD
OSR2	E5RH04	p.Asp288Ala	rs1391257132	missense variant	-	NC_000008.11:g.98950862A>C	TOPMed
OSR2	E5RH04	p.Asp288Asn	rs1462970577	missense variant	-	NC_000008.11:g.98950861G>A	gnomAD
LMBR1	H0Y6V6	p.Gly1Val	rs752211706	missense variant	-	NC_000007.14:g.156892986C>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Gly1Trp	rs537237432	missense variant	-	NC_000007.14:g.156892987C>A	1000Genomes,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Gly1Arg	rs537237432	missense variant	-	NC_000007.14:g.156892987C>T	1000Genomes,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asp3Asn	rs764840725	missense variant	-	NC_000007.14:g.156892981C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Glu4Val	rs931898966	missense variant	-	NC_000007.14:g.156892977T>A	gnomAD
LMBR1	H0Y6V6	p.Glu4Lys	rs139646169	missense variant	-	NC_000007.14:g.156892978C>T	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ser6Leu	rs776745429	missense variant	-	NC_000007.14:g.156892971G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ala7Val	rs773048809	missense variant	-	NC_000007.14:g.156892968G>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ala7Thr	rs760438533	missense variant	-	NC_000007.14:g.156892969C>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg8Gln	rs772250880	missense variant	-	NC_000007.14:g.156892965C>T	ExAC
LMBR1	H0Y6V6	p.Glu9Lys	rs1233785171	missense variant	-	NC_000007.14:g.156892963C>T	TOPMed
LMBR1	H0Y6V6	p.Gln10Glu	rs748407183	missense variant	-	NC_000007.14:g.156892960G>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.His11Gln	rs779049387	missense variant	-	NC_000007.14:g.156892955G>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.His13Pro	rs1185781023	missense variant	-	NC_000007.14:g.156892950T>G	gnomAD
LMBR1	H0Y6V6	p.Gln15Glu	rs768746253	missense variant	-	NC_000007.14:g.156892945G>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Val16Met	rs147215221	missense variant	-	NC_000007.14:g.156892942C>T	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Val16Leu	rs147215221	missense variant	-	NC_000007.14:g.156892942C>A	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Val16Leu	rs147215221	missense variant	-	NC_000007.14:g.156892942C>G	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Glu18Gln	rs781612611	missense variant	-	NC_000007.14:g.156892936C>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Glu18Lys	rs781612611	missense variant	-	NC_000007.14:g.156892936C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ser19Thr	rs367632078	missense variant	-	NC_000007.14:g.156892933A>T	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Thr20Met	rs764947202	missense variant	-	NC_000007.14:g.156892929G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ile21Val	rs201837108	missense variant	-	NC_000007.14:g.156836885T>C	gnomAD
LMBR1	H0Y6V6	p.Cys22Arg	rs1345737927	missense variant	-	NC_000007.14:g.156836882A>G	gnomAD
LMBR1	H0Y6V6	p.Leu24Phe	rs377125442	missense variant	-	NC_000007.14:g.156836876G>A	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ile28Val	rs775620717	missense variant	-	NC_000007.14:g.156836864T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Tyr30Cys	rs1428338206	missense variant	-	NC_000007.14:g.156836857T>C	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Tyr30Ter	rs143018746	stop gained	-	NC_000007.14:g.156836856G>C	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Tyr30Phe	rs1428338206	missense variant	-	NC_000007.14:g.156836857T>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Val31Ile	rs777239332	missense variant	-	NC_000007.14:g.156836855C>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ile37Val	rs1392705978	missense variant	-	NC_000007.14:g.156836837T>C	gnomAD
LMBR1	H0Y6V6	p.Arg39Ser	rs1433375243	missense variant	-	NC_000007.14:g.156836829T>G	gnomAD
LMBR1	H0Y6V6	p.Tyr40Ter	rs1281775073	stop gained	-	NC_000007.14:g.156836826G>C	gnomAD
LMBR1	H0Y6V6	p.Arg42Lys	rs778280366	missense variant	-	NC_000007.14:g.156836821C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Lys43Glu	rs1487022830	missense variant	-	NC_000007.14:g.156836819T>C	gnomAD
LMBR1	H0Y6V6	p.Gln47Ter	rs1392587221	stop gained	-	NC_000007.14:g.156833787G>A	gnomAD
LMBR1	H0Y6V6	p.Asp49Gly	rs1443071553	missense variant	-	NC_000007.14:g.156833780T>C	TOPMed
LMBR1	H0Y6V6	p.Glu50Gln	rs1265166684	missense variant	-	NC_000007.14:g.156833778C>G	gnomAD
LMBR1	H0Y6V6	p.Ile53Val	rs529634450	missense variant	-	NC_000007.14:g.156833769T>C	1000Genomes,ExAC,gnomAD
LMBR1	H0Y6V6	p.Val54Ile	rs771481264	missense variant	-	NC_000007.14:g.156833766C>T	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ile57Val	rs954506791	missense variant	-	NC_000007.14:g.156833757T>C	TOPMed
LMBR1	H0Y6V6	p.Ile57Leu	rs954506791	missense variant	-	NC_000007.14:g.156833757T>G	TOPMed
LMBR1	H0Y6V6	p.Ser58Leu	rs765557728	missense variant	-	NC_000007.14:g.156833753G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu59Trp	rs1239135194	missense variant	-	NC_000007.14:g.156826742A>C	TOPMed
LMBR1	H0Y6V6	p.Phe60Leu	rs754746046	missense variant	-	NC_000007.14:g.156826738A>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.LeuSer61LeuAsnTerGluSer	rs1168058405	stop gained	-	NC_000007.14:g.156826735_156826736insTCTCAGTTC	gnomAD
LMBR1	H0Y6V6	p.Ser62Cys	rs1346708447	missense variant	-	NC_000007.14:g.156826734T>A	gnomAD
LMBR1	H0Y6V6	p.Thr63Met	rs754031706	missense variant	-	NC_000007.14:g.156826730G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ala67Pro	rs752539800	missense variant	-	NC_000007.14:g.156826719C>G	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ala67Ser	rs752539800	missense variant	-	NC_000007.14:g.156826719C>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Val68Ala	rs750507899	missense variant	-	NC_000007.14:g.156826715A>G	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ala70Thr	rs768196611	missense variant	-	NC_000007.14:g.156826710C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Gly71Glu	rs1416198782	missense variant	-	NC_000007.14:g.156826706C>T	gnomAD
LMBR1	H0Y6V6	p.Gly71Val	rs1416198782	missense variant	-	NC_000007.14:g.156826706C>A	gnomAD
LMBR1	H0Y6V6	p.Phe78Leu	rs886062121	missense variant	-	NC_000007.14:g.156826684G>C	-
LMBR1	H0Y6V6	p.Phe78Leu	rs369093558	missense variant	-	NC_000007.14:g.156826686A>G	ESP,ExAC,gnomAD
LMBR1	H0Y6V6	p.Ser79Ter	rs1233438390	stop gained	-	NC_000007.14:g.156826682G>C	-
LMBR1	H0Y6V6	p.Ile80Val	rs770537220	missense variant	-	NC_000007.14:g.156826680T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ser82Asn	rs1278970681	missense variant	-	NC_000007.14:g.156826673C>T	gnomAD
LMBR1	H0Y6V6	p.Ser82Arg	rs1443573243	missense variant	-	NC_000007.14:g.156826674T>G	gnomAD
LMBR1	H0Y6V6	p.Glu84Lys	rs1337917129	missense variant	-	NC_000007.14:g.156826668C>T	gnomAD
LMBR1	H0Y6V6	p.Leu87Arg	rs1355411992	missense variant	-	NC_000007.14:g.156826658A>C	gnomAD
LMBR1	H0Y6V6	p.Pro90Leu	rs1329133827	missense variant	-	NC_000007.14:g.156826649G>A	TOPMed
LMBR1	H0Y6V6	p.Gln91Ter	rs1291917188	stop gained	-	NC_000007.14:g.156826647G>A	gnomAD
LMBR1	H0Y6V6	p.Asn92Tyr	rs748052405	missense variant	-	NC_000007.14:g.156826644T>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Tyr93Cys	rs1359810496	missense variant	-	NC_000007.14:g.156826640T>C	gnomAD
LMBR1	H0Y6V6	p.Tyr94Asn	rs778862287	missense variant	-	NC_000007.14:g.156826638A>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Tyr94Asp	rs778862287	missense variant	-	NC_000007.14:g.156826638A>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Tyr94Cys	rs754763256	missense variant	-	NC_000007.14:g.156826637T>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Gln96Glu	rs1402673877	missense variant	-	NC_000007.14:g.156826632G>C	gnomAD
LMBR1	H0Y6V6	p.Leu98Pro	rs749078736	missense variant	-	NC_000007.14:g.156826625A>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.His104Tyr	rs536909090	missense variant	-	NC_000007.14:g.156826608G>A	1000Genomes,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.His104Asp	rs536909090	missense variant	-	NC_000007.14:g.156826608G>C	1000Genomes,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Gly105Cys	rs369354246	missense variant	-	NC_000007.14:g.156826605C>A	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Gly105Arg	rs369354246	missense variant	-	NC_000007.14:g.156826605C>G	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asn108Lys	rs1332215021	missense variant	-	NC_000007.14:g.156796482A>C	gnomAD
LMBR1	H0Y6V6	p.Asn108His	rs1440049838	missense variant	-	NC_000007.14:g.156796484T>G	gnomAD
LMBR1	H0Y6V6	p.Asn108Thr	rs764618320	missense variant	-	NC_000007.14:g.156796483T>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ala110Pro	rs1447325976	missense variant	-	NC_000007.14:g.156796478C>G	gnomAD
LMBR1	H0Y6V6	p.Asn115Ser	rs568570543	missense variant	-	NC_000007.14:g.156796462T>C	1000Genomes,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu116Val	rs766091213	missense variant	-	NC_000007.14:g.156796460G>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Cys117Phe	rs1178863589	missense variant	-	NC_000007.14:g.156796456C>A	gnomAD
LMBR1	H0Y6V6	p.Phe119Ser	rs772797032	missense variant	-	NC_000007.14:g.156796450A>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Val120Ile	rs771506654	missense variant	-	NC_000007.14:g.156796448C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Val120Leu	rs771506654	missense variant	-	NC_000007.14:g.156796448C>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ser131Ter	rs1022908866	stop gained	-	NC_000007.14:g.156796414G>T	gnomAD
LMBR1	H0Y6V6	p.Ala135Pro	rs1370035308	missense variant	-	NC_000007.14:g.156796403C>G	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Gly136Ser	rs1291603959	missense variant	-	NC_000007.14:g.156796400C>T	gnomAD
LMBR1	H0Y6V6	p.Lys138Arg	rs769643837	missense variant	-	NC_000007.14:g.156796393T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Lys139Asn	rs187256493	missense variant	-	NC_000007.14:g.156796389C>G	1000Genomes,ExAC,gnomAD
LMBR1	H0Y6V6	p.Gly140Ter	rs771159834	stop gained	-	NC_000007.14:g.156763795C>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Gly140Val	rs747128466	missense variant	-	NC_000007.14:g.156763794C>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ile141Val	rs777915846	missense variant	-	NC_000007.14:g.156763792T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Arg142Ter	rs758355870	stop gained	-	NC_000007.14:g.156763789G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Arg142Gln	rs201739279	missense variant	-	NC_000007.14:g.156763788C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ala143Thr	rs200558566	missense variant	-	NC_000007.14:g.156763786C>T	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg144His	rs754181857	missense variant	-	NC_000007.14:g.156763782C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Arg144Cys	rs1200156705	missense variant	-	NC_000007.14:g.156763783G>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Thr148Ile	rs1483238603	missense variant	-	NC_000007.14:g.156763770G>A	TOPMed
LMBR1	H0Y6V6	p.Thr148Ala	rs1449557838	missense variant	-	NC_000007.14:g.156763771T>C	gnomAD
LMBR1	H0Y6V6	p.Leu149Val	rs751104463	missense variant	-	NC_000007.14:g.156763768A>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu149Phe	rs763674051	missense variant	-	NC_000007.14:g.156763766C>G	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu149Phe	rs763674051	missense variant	-	NC_000007.14:g.156763766C>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Val150Ile	rs145045413	missense variant	-	NC_000007.14:g.156763765C>T	1000Genomes,gnomAD
LMBR1	H0Y6V6	p.Met151Val	rs762502936	missense variant	-	NC_000007.14:g.156763762T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Met151Ile	rs775595886	missense variant	-	NC_000007.14:g.156763760C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu152Ile	rs483352752	missense variant	-	NC_000007.14:g.156763759G>T	-
LMBR1	H0Y6V6	p.Leu154Ile	rs1180731210	missense variant	-	NC_000007.14:g.156763753G>T	gnomAD
LMBR1	H0Y6V6	p.Ala156Gly	rs776470632	missense variant	-	NC_000007.14:g.156763746G>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ala156Pro	rs1418410790	missense variant	-	NC_000007.14:g.156763747C>G	TOPMed
LMBR1	H0Y6V6	p.Ala156Val	rs776470632	missense variant	-	NC_000007.14:g.156763746G>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu160Phe	rs1198850228	missense variant	-	NC_000007.14:g.156763735G>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Val163Ala	rs1414481090	missense variant	-	NC_000007.14:g.156763725A>G	TOPMed
LMBR1	H0Y6V6	p.Trp164Cys	rs773262138	missense variant	-	NC_000007.14:g.156763721C>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Trp164Ter	rs773262138	stop gained	-	NC_000007.14:g.156763721C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Trp164Ter	rs1244892651	stop gained	-	NC_000007.14:g.156763722C>T	gnomAD
LMBR1	H0Y6V6	p.Val165Leu	rs1306708103	missense variant	-	NC_000007.14:g.156763720C>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Val165Ala	rs772174594	missense variant	-	NC_000007.14:g.156763719A>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ala168Val	rs779445709	missense variant	-	NC_000007.14:g.156763710G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu169His	rs755466895	missense variant	-	NC_000007.14:g.156763707A>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu169Phe	rs1448926584	missense variant	-	NC_000007.14:g.156763708G>A	TOPMed
LMBR1	H0Y6V6	p.Ile170Thr	rs149171555	missense variant	-	NC_000007.14:g.156763704A>G	1000Genomes,ExAC,gnomAD
LMBR1	H0Y6V6	p.Asn172Lys	rs756376000	missense variant	-	NC_000007.14:g.156763697G>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asp173Asn	rs1027367161	missense variant	-	NC_000007.14:g.156763696C>T	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ala175Thr	rs148974610	missense variant	-	NC_000007.14:g.156763690C>T	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Met177Ile	rs1276487383	missense variant	-	NC_000007.14:g.156763682C>T	TOPMed
LMBR1	H0Y6V6	p.Met177Leu	rs138964269	missense variant	-	NC_000007.14:g.156763684T>A	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Met177Val	rs138964269	missense variant	-	NC_000007.14:g.156763684T>C	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu180Ser	rs759554435	missense variant	-	NC_000007.14:g.156763674A>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Tyr181Cys	rs776377614	missense variant	-	NC_000007.14:g.156763671T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu183Arg	rs758107963	missense variant	-	NC_000007.14:g.156763173A>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Glu185Lys	rs1379135669	missense variant	-	NC_000007.14:g.156763168C>T	gnomAD
LMBR1	H0Y6V6	p.Tyr190Cys	rs1199542400	missense variant	-	NC_000007.14:g.156763152T>C	gnomAD
LMBR1	H0Y6V6	p.Ile195Leu	rs980479868	missense variant	-	NC_000007.14:g.156763138T>A	TOPMed
LMBR1	H0Y6V6	p.Ile195Met	rs1260874225	missense variant	-	NC_000007.14:g.156763136T>C	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ile195Val	rs980479868	missense variant	-	NC_000007.14:g.156763138T>C	TOPMed
LMBR1	H0Y6V6	p.Met198Arg	rs573615009	missense variant	-	NC_000007.14:g.156763128A>C	gnomAD
LMBR1	H0Y6V6	p.Gly199Glu	rs1488328249	missense variant	-	NC_000007.14:g.156763125C>T	gnomAD
LMBR1	H0Y6V6	p.Cys200Tyr	rs1455915226	missense variant	-	NC_000007.14:g.156763122C>T	gnomAD
LMBR1	H0Y6V6	p.Leu202Ser	rs752319315	missense variant	-	NC_000007.14:g.156763116A>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu203Val	rs1347623645	missense variant	-	NC_000007.14:g.156763114G>C	gnomAD
LMBR1	H0Y6V6	p.Cys206Arg	rs1473454383	missense variant	-	NC_000007.14:g.156762196A>G	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Cys206Tyr	rs1368752969	missense variant	-	NC_000007.14:g.156762195C>T	gnomAD
LMBR1	H0Y6V6	p.Val209Ile	rs761544977	missense variant	-	NC_000007.14:g.156762187C>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Gly210Asp	rs1456757055	missense variant	-	NC_000007.14:g.156762183C>T	gnomAD
LMBR1	H0Y6V6	p.Ser212Pro	rs764269813	missense variant	-	NC_000007.14:g.156762178A>G	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg213Cys	rs763139081	missense variant	-	NC_000007.14:g.156762175G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Arg213His	rs775415352	missense variant	-	NC_000007.14:g.156762174C>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Met214Leu	rs770397280	missense variant	-	NC_000007.14:g.156762172T>G	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Met214Thr	rs759962331	missense variant	-	NC_000007.14:g.156762171A>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Thr216Ala	rs1308864480	missense variant	-	NC_000007.14:g.156762166T>C	gnomAD
LMBR1	H0Y6V6	p.Val217Met	rs1238203816	missense variant	-	NC_000007.14:g.156762163C>T	gnomAD
LMBR1	H0Y6V6	p.Gly219Ser	rs905115023	missense variant	-	NC_000007.14:g.156762157C>T	gnomAD
LMBR1	H0Y6V6	p.Gly219Arg	rs905115023	missense variant	-	NC_000007.14:g.156762157C>G	gnomAD
LMBR1	H0Y6V6	p.Gln220Pro	rs201194692	missense variant	-	NC_000007.14:g.156762153T>G	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu222Val	rs747351668	missense variant	-	NC_000007.14:g.156762148G>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Val223Met	rs1321499906	missense variant	-	NC_000007.14:g.156762145C>T	gnomAD
LMBR1	H0Y6V6	p.Val223Ala	rs778762293	missense variant	-	NC_000007.14:g.156762144A>G	ExAC,TOPMed
LMBR1	H0Y6V6	p.Thr226Ile	rs1446887359	missense variant	-	NC_000007.14:g.156762135G>A	TOPMed
LMBR1	H0Y6V6	p.Thr226Ala	rs6957768	missense variant	-	NC_000007.14:g.156762136T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu228Ile	rs1231690861	missense variant	-	NC_000007.14:g.156756462G>T	TOPMed
LMBR1	H0Y6V6	p.Leu231Pro	rs748908835	missense variant	-	NC_000007.14:g.156756452A>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu231Val	rs772415094	missense variant	-	NC_000007.14:g.156756453G>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ile235Thr	rs1489308734	missense variant	-	NC_000007.14:g.156756440A>G	gnomAD
LMBR1	H0Y6V6	p.Ile237Val	rs373717180	missense variant	-	NC_000007.14:g.156756435T>C	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ile238Met	rs1437152815	missense variant	-	NC_000007.14:g.156756430A>C	gnomAD
LMBR1	H0Y6V6	p.Ile238Phe	rs370561017	missense variant	-	NC_000007.14:g.156756432T>A	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ile238Val	rs370561017	missense variant	-	NC_000007.14:g.156756432T>C	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Glu241Gln	rs1311432740	missense variant	-	NC_000007.14:g.156756423C>G	gnomAD
LMBR1	H0Y6V6	p.Glu242Lys	rs781155753	missense variant	-	NC_000007.14:g.156756420C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Glu243Asp	rs757169155	missense variant	-	NC_000007.14:g.156756415T>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ala244Thr	rs746870245	missense variant	-	NC_000007.14:g.156756414C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu245Phe	rs777431087	missense variant	-	NC_000007.14:g.156756411G>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg247Ile	rs1341823492	missense variant	-	NC_000007.14:g.156756404C>A	gnomAD
LMBR1	H0Y6V6	p.Arg248Ter	rs752896240	stop gained	-	NC_000007.14:g.156756402G>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg248Gln	rs1357019505	missense variant	-	NC_000007.14:g.156756401C>T	gnomAD
LMBR1	H0Y6V6	p.Val251Ala	rs1374089021	missense variant	-	NC_000007.14:g.156736615A>G	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Gly252Glu	rs966303535	missense variant	-	NC_000007.14:g.156736612C>T	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Met253Val	rs776111350	missense variant	-	NC_000007.14:g.156736610T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu254Phe	rs774941625	missense variant	-	NC_000007.14:g.156736607G>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu254Pro	rs1260985869	missense variant	-	NC_000007.14:g.156736606A>G	gnomAD
LMBR1	H0Y6V6	p.Cys255Tyr	rs565300121	missense variant	-	NC_000007.14:g.156736603C>T	1000Genomes,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ala256Ser	rs1461643784	missense variant	-	NC_000007.14:g.156736601C>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ala256Val	rs550331323	missense variant	-	NC_000007.14:g.156736600G>A	1000Genomes,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asn258Tyr	rs1286007573	missense variant	-	NC_000007.14:g.156736595T>A	gnomAD
LMBR1	H0Y6V6	p.Pro259Leu	rs1251745785	missense variant	-	NC_000007.14:g.156736591G>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Val261Ile	rs777728720	missense variant	-	NC_000007.14:g.156736586C>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Thr263Ala	rs1319388952	missense variant	-	NC_000007.14:g.156736580T>C	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg265Gly	rs531837881	missense variant	-	NC_000007.14:g.156736574T>C	1000Genomes,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Gln266Glu	rs1400664677	missense variant	-	NC_000007.14:g.156736571G>C	TOPMed
LMBR1	H0Y6V6	p.Gln266Arg	rs1451469458	missense variant	-	NC_000007.14:g.156736570T>C	TOPMed
LMBR1	H0Y6V6	p.Pro268Ser	rs1246221276	missense variant	-	NC_000007.14:g.156736565G>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Glu269Lys	rs1307562619	missense variant	-	NC_000007.14:g.156736562C>T	gnomAD
LMBR1	H0Y6V6	p.Gln271Arg	rs1010869336	missense variant	-	NC_000007.14:g.156736555T>C	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Gln271Ter	rs1449165373	stop gained	-	NC_000007.14:g.156736556G>A	TOPMed
LMBR1	H0Y6V6	p.Ala272Val	rs1397847691	missense variant	-	NC_000007.14:g.156736552G>A	gnomAD
LMBR1	H0Y6V6	p.Gly273Val	rs1293458682	missense variant	-	NC_000007.14:g.156736549C>A	gnomAD
LMBR1	H0Y6V6	p.Trp280Ter	rs561566992	stop gained	-	NC_000007.14:g.156736527C>T	1000Genomes,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asp286Gly	rs1432037500	missense variant	-	NC_000007.14:g.156736510T>C	gnomAD
LMBR1	H0Y6V6	p.Asp286His	rs1176547184	missense variant	-	NC_000007.14:g.156736511C>G	gnomAD
LMBR1	H0Y6V6	p.Met287Thr	rs1420649349	missense variant	-	NC_000007.14:g.156736507A>G	gnomAD
LMBR1	H0Y6V6	p.Pro291Ser	rs1202029932	missense variant	-	NC_000007.14:g.156736496G>A	TOPMed
LMBR1	H0Y6V6	p.Arg292Trp	rs758171578	missense variant	-	NC_000007.14:g.156736493G>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg292Leu	rs772036803	missense variant	-	NC_000007.14:g.156734257C>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ser295Pro	rs1308184273	missense variant	-	NC_000007.14:g.156734249A>G	TOPMed
LMBR1	H0Y6V6	p.Ser296Leu	rs182641358	missense variant	-	NC_000007.14:g.156734245G>A	1000Genomes,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Glu298Ala	rs1477239939	missense variant	-	NC_000007.14:g.156734239T>G	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Tyr299Cys	rs756301279	missense variant	-	NC_000007.14:g.156734236T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Tyr299Asn	rs780385456	missense variant	-	NC_000007.14:g.156734237A>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asn300Asp	rs750492938	missense variant	-	NC_000007.14:g.156734234T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ile301Val	rs906392566	missense variant	-	NC_000007.14:g.156734231T>C	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Met302Thr	rs1199161805	missense variant	-	NC_000007.14:g.156734227A>G	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu304Val	rs757777868	missense variant	-	NC_000007.14:g.156734222A>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Glu309Lys	rs751941457	missense variant	-	NC_000007.14:g.156734207C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Glu309Asp	rs1316549571	missense variant	-	NC_000007.14:g.156734205T>G	gnomAD
LMBR1	H0Y6V6	p.Val311Ile	rs968780146	missense variant	-	NC_000007.14:g.156734201C>T	TOPMed
LMBR1	H0Y6V6	p.Thr313Ala	rs1228173830	missense variant	-	NC_000007.14:g.156734195T>C	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Thr313Ser	rs1228173830	missense variant	-	NC_000007.14:g.156734195T>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Lys317Asn	rs1450259977	missense variant	-	NC_000007.14:g.156734181T>G	gnomAD
LMBR1	H0Y6V6	p.Lys317Arg	rs1004974552	missense variant	-	NC_000007.14:g.156734182T>C	TOPMed
LMBR1	H0Y6V6	p.Leu318Ser	rs886430043	missense variant	-	NC_000007.14:g.156734179A>G	TOPMed
LMBR1	H0Y6V6	p.Arg321Gln	rs146411054	missense variant	-	NC_000007.14:g.156728714C>T	ESP,ExAC,gnomAD
LMBR1	H0Y6V6	p.Arg321Ter	rs377662885	stop gained	-	NC_000007.14:g.156728715G>A	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Lys322Ter	rs1161089398	stop gained	-	NC_000007.14:g.156728712T>A	gnomAD
LMBR1	H0Y6V6	p.Lys322Arg	rs1446102696	missense variant	-	NC_000007.14:g.156728711T>C	gnomAD
LMBR1	H0Y6V6	p.Ala324Ser	rs767080458	missense variant	-	NC_000007.14:g.156728706C>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ser325Leu	rs1284958731	missense variant	-	NC_000007.14:g.156728702G>A	TOPMed
LMBR1	H0Y6V6	p.Ala326Ser	rs761192153	missense variant	-	NC_000007.14:g.156728700C>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu331Val	rs542560756	missense variant	-	NC_000007.14:g.156728685A>C	1000Genomes,ExAC,gnomAD
LMBR1	H0Y6V6	p.Val332Ala	rs143985651	missense variant	-	NC_000007.14:g.156728681A>G	ESP,ExAC,gnomAD
LMBR1	H0Y6V6	p.Met337Ile	rs374028046	missense variant	-	NC_000007.14:g.156728665C>G	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Met337Thr	rs1258629499	missense variant	-	NC_000007.14:g.156728666A>G	TOPMed
LMBR1	H0Y6V6	p.Val338Ile	rs940802815	missense variant	-	NC_000007.14:g.156728664C>T	TOPMed
LMBR1	H0Y6V6	p.Leu340Ile	rs201891297	missense variant	-	NC_000007.14:g.156728658G>T	1000Genomes
LMBR1	H0Y6V6	p.Glu343Lys	rs577202525	missense variant	-	NC_000007.14:g.156728649C>T	gnomAD
LMBR1	H0Y6V6	p.Leu349Phe	rs200717387	missense variant	-	NC_000007.14:g.156727995G>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu349Val	rs200717387	missense variant	-	NC_000007.14:g.156727995G>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ala352Ser	rs1414253516	missense variant	-	NC_000007.14:g.156727986C>A	gnomAD
LMBR1	H0Y6V6	p.Asn354Asp	rs747160160	missense variant	-	NC_000007.14:g.156727980T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Cys357Arg	rs772082498	missense variant	-	NC_000007.14:g.156727971A>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Thr363Ile	rs1034403166	missense variant	-	NC_000007.14:g.156727952G>A	TOPMed
LMBR1	H0Y6V6	p.Ala364Thr	rs1486980085	missense variant	-	NC_000007.14:g.156727950C>T	gnomAD
LMBR1	H0Y6V6	p.Lys367Glu	rs779252361	missense variant	-	NC_000007.14:g.156727941T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Gly368Ala	rs769108492	missense variant	-	NC_000007.14:g.156727937C>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Thr369Arg	rs1441618198	missense variant	-	NC_000007.14:g.156727934G>C	gnomAD
LMBR1	H0Y6V6	p.Gly371Arg	rs772174567	missense variant	-	NC_000007.14:g.156725837C>G	ExAC
LMBR1	H0Y6V6	p.Pro372Thr	rs761853440	missense variant	-	NC_000007.14:g.156725834G>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Pro372Arg	rs1227413131	missense variant	-	NC_000007.14:g.156725833G>C	gnomAD
LMBR1	H0Y6V6	p.Ile374Val	rs749725838	missense variant	-	NC_000007.14:g.156725828T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Gly375Glu	rs1290794070	missense variant	-	NC_000007.14:g.156725824C>T	TOPMed
LMBR1	H0Y6V6	p.Asn376Lys	rs368074174	missense variant	-	NC_000007.14:g.156725820A>C	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ser378Cys	rs1386486568	missense variant	-	NC_000007.14:g.156725815G>C	TOPMed
LMBR1	H0Y6V6	p.Leu379Phe	rs1463636730	missense variant	-	NC_000007.14:g.156725813G>A	gnomAD
LMBR1	H0Y6V6	p.Thr381Ala	rs1243498576	missense variant	-	NC_000007.14:g.156725807T>C	TOPMed
LMBR1	H0Y6V6	p.Thr381Met	rs1314066185	missense variant	-	NC_000007.14:g.156725806G>A	TOPMed
LMBR1	H0Y6V6	p.Ala387Thr	rs1399908042	missense variant	-	NC_000007.14:g.156725789C>T	gnomAD
LMBR1	H0Y6V6	p.Ala388Val	rs970542430	missense variant	-	NC_000007.14:g.156725785G>A	gnomAD
LMBR1	H0Y6V6	p.Leu389Pro	rs758020170	missense variant	-	NC_000007.14:g.156725782A>G	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu393Trp	rs1243701564	missense variant	-	NC_000007.14:g.156725770A>C	TOPMed
LMBR1	H0Y6V6	p.Tyr396Cys	rs757422910	missense variant	-	NC_000007.14:g.156725523T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Met398Thr	rs1286903647	missense variant	-	NC_000007.14:g.156725517A>G	gnomAD
LMBR1	H0Y6V6	p.Met398Leu	rs1349171600	missense variant	-	NC_000007.14:g.156725518T>A	gnomAD
LMBR1	H0Y6V6	p.Val399Met	rs1420529500	missense variant	-	NC_000007.14:g.156725515C>T	TOPMed
LMBR1	H0Y6V6	p.Ser401Cys	rs1364369738	missense variant	-	NC_000007.14:g.156725508G>C	gnomAD
LMBR1	H0Y6V6	p.Val402Ala	rs1479193867	missense variant	-	NC_000007.14:g.156725505A>G	gnomAD
LMBR1	H0Y6V6	p.Gly404Ser	rs775900111	missense variant	-	NC_000007.14:g.156725500C>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Phe405Leu	rs777140790	missense variant	-	NC_000007.14:g.156725497A>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Tyr406Cys	rs1486392589	missense variant	-	NC_000007.14:g.156725493T>C	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Tyr406His	rs1207335628	missense variant	-	NC_000007.14:g.156725494A>G	gnomAD
LMBR1	H0Y6V6	p.Arg409Gln	rs200345135	missense variant	-	NC_000007.14:g.156725484C>T	1000Genomes,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg409Pro	rs200345135	missense variant	-	NC_000007.14:g.156725484C>G	1000Genomes,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg409Ter	rs1263101718	stop gained	-	NC_000007.14:g.156725485G>A	gnomAD
LMBR1	H0Y6V6	p.Phe410Val	rs886062120	missense variant	-	NC_000007.14:g.156725482A>C	gnomAD
LMBR1	H0Y6V6	p.Asn413Lys	rs1324972936	missense variant	-	NC_000007.14:g.156725471G>C	gnomAD
LMBR1	H0Y6V6	p.Pro416Ala	rs1357184794	missense variant	-	NC_000007.14:g.156725464G>C	TOPMed
LMBR1	H0Y6V6	p.Lys417Arg	rs747778186	missense variant	-	NC_000007.14:g.156725460T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Lys418Arg	rs774015482	missense variant	-	NC_000007.14:g.156725457T>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Thr421Ile	rs1335794635	missense variant	-	NC_000007.14:g.156725448G>A	gnomAD
LMBR1	H0Y6V6	p.Thr422Ala	rs569074168	missense variant	-	NC_000007.14:g.156725446T>C	1000Genomes,ExAC,gnomAD
LMBR1	H0Y6V6	p.Met423Val	rs748813721	missense variant	-	NC_000007.14:g.156725443T>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Lys425Asn	rs780026772	missense variant	-	NC_000007.14:g.156725435C>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ile426Val	rs1181683607	missense variant	-	NC_000007.14:g.156724178T>C	gnomAD
LMBR1	H0Y6V6	p.Gly428Glu	rs1275235971	missense variant	-	NC_000007.14:g.156724171C>T	gnomAD
LMBR1	H0Y6V6	p.Ser432Phe	rs781063724	missense variant	-	NC_000007.14:g.156724159G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ser432Thr	rs745824343	missense variant	-	NC_000007.14:g.156724160A>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ser432Pro	rs745824343	missense variant	-	NC_000007.14:g.156724160A>G	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ser432Tyr	rs781063724	missense variant	-	NC_000007.14:g.156724159G>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ile433Met	rs376693224	missense variant	-	NC_000007.14:g.156724155G>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ile433Val	rs770670942	missense variant	-	NC_000007.14:g.156724157T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu434Phe	rs777912895	missense variant	-	NC_000007.14:g.156724152C>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Val435Ile	rs758641280	missense variant	-	NC_000007.14:g.156724151C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ser438Cys	rs752911856	missense variant	-	NC_000007.14:g.156724141G>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Ala439Thr	rs779158841	missense variant	-	NC_000007.14:g.156724139C>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Val442Gly	rs1364634105	missense variant	-	NC_000007.14:g.156724129A>C	gnomAD
LMBR1	H0Y6V6	p.Ser444Leu	rs371100043	missense variant	-	NC_000007.14:g.156724123G>A	ESP,gnomAD
LMBR1	H0Y6V6	p.Ile449Leu	rs746844459	missense variant	-	NC_000007.14:g.156688189T>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Thr450Ser	rs1410884767	missense variant	-	NC_000007.14:g.156688185G>C	gnomAD
LMBR1	H0Y6V6	p.Asp453Gly	rs1480177112	missense variant	-	NC_000007.14:g.156688176T>C	gnomAD
LMBR1	H0Y6V6	p.Leu454Pro	rs1427310353	missense variant	-	NC_000007.14:g.156688173A>G	gnomAD
LMBR1	H0Y6V6	p.Leu455Pro	rs1354880396	missense variant	-	NC_000007.14:g.156688170A>G	TOPMed
LMBR1	H0Y6V6	p.Asp457Asn	rs755161471	missense variant	-	NC_000007.14:g.156688165C>T	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Arg460Thr	rs780494539	missense variant	-	NC_000007.14:g.156688155C>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Arg460Ser	rs11540622	missense variant	-	NC_000007.14:g.156688154C>A	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asn462Ser	rs750834412	missense variant	-	NC_000007.14:g.156688149T>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Trp463Gly	rs767943841	missense variant	-	NC_000007.14:g.156688147A>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Tyr468Ser	rs752383962	missense variant	-	NC_000007.14:g.156688131T>G	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Tyr468Cys	rs752383962	missense variant	-	NC_000007.14:g.156688131T>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ile469Val	rs969934431	missense variant	-	NC_000007.14:g.156688129T>C	gnomAD
LMBR1	H0Y6V6	p.Val470Ile	rs1022907818	missense variant	-	NC_000007.14:g.156688126C>T	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Val470Leu	rs1022907818	missense variant	-	NC_000007.14:g.156688126C>A	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Ser472Phe	rs764846509	missense variant	-	NC_000007.14:g.156688119G>A	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asn474Ser	rs145270950	missense variant	-	NC_000007.14:g.156688113T>C	ESP,ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu475Ser	rs1404472932	missense variant	-	NC_000007.14:g.156688110A>G	gnomAD
LMBR1	H0Y6V6	p.Leu475Phe	rs377036782	missense variant	-	NC_000007.14:g.156688109C>A	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu476Phe	rs1357442970	missense variant	-	NC_000007.14:g.156688108G>A	gnomAD
LMBR1	H0Y6V6	p.Ile479Val	rs1433841037	missense variant	-	NC_000007.14:g.156688099T>C	gnomAD
LMBR1	H0Y6V6	p.Thr482Ile	rs765738640	missense variant	-	NC_000007.14:g.156688089G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu483Trp	rs1184978850	missense variant	-	NC_000007.14:g.156688086A>C	gnomAD
LMBR1	H0Y6V6	p.Cys484Gly	rs1476486178	missense variant	-	NC_000007.14:g.156688084A>C	gnomAD
LMBR1	H0Y6V6	p.Val486Phe	rs1249696156	missense variant	-	NC_000007.14:g.156688078C>A	gnomAD
LMBR1	H0Y6V6	p.Arg487Ter	rs1004969335	stop gained	-	NC_000007.14:g.156688075G>A	gnomAD
LMBR1	H0Y6V6	p.Arg487Gln	rs1460825955	missense variant	-	NC_000007.14:g.156688074C>T	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Phe489Leu	rs1261163203	missense variant	-	NC_000007.14:g.156688069A>G	gnomAD
LMBR1	H0Y6V6	p.Ala492Val	rs760685039	missense variant	-	NC_000007.14:g.156688059G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Val493Phe	rs772985105	missense variant	-	NC_000007.14:g.156688057C>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Leu497Ile	rs772033218	missense variant	-	NC_000007.14:g.156688045G>T	ExAC,gnomAD
LMBR1	H0Y6V6	p.Phe498Cys	rs747934626	missense variant	-	NC_000007.14:g.156688041A>C	ExAC,gnomAD
LMBR1	H0Y6V6	p.Lys499Glu	rs1169651902	missense variant	-	NC_000007.14:g.156688039T>C	TOPMed
LMBR1	H0Y6V6	p.Lys499Arg	rs1363580624	missense variant	-	NC_000007.14:g.156688038T>C	gnomAD
LMBR1	H0Y6V6	p.Leu503Phe	rs1444445309	missense variant	-	NC_000007.14:g.156684161G>A	gnomAD
LMBR1	H0Y6V6	p.His504Arg	rs773251383	missense variant	-	NC_000007.14:g.156684157T>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu506Val	rs140722848	missense variant	-	NC_000007.14:g.156684152G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu506Phe	rs140722848	missense variant	-	NC_000007.14:g.156684152G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.His507Pro	rs1423820835	missense variant	-	NC_000007.14:g.156684148T>G	gnomAD
LMBR1	H0Y6V6	p.Leu508Ter	rs1166595321	stop gained	-	NC_000007.14:g.156684145A>T	gnomAD
LMBR1	H0Y6V6	p.Pro509Ser	rs369873566	missense variant	-	NC_000007.14:g.156684143G>A	ESP,ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asn510Asp	rs759960113	missense variant	-	NC_000007.14:g.156684140T>C	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Asn510Ser	rs1175045460	missense variant	-	NC_000007.14:g.156684139T>C	gnomAD
LMBR1	H0Y6V6	p.Asn510His	rs759960113	missense variant	-	NC_000007.14:g.156684140T>G	ExAC,TOPMed,gnomAD
LMBR1	H0Y6V6	p.Thr511Ile	rs867219160	missense variant	-	NC_000007.14:g.156684136G>A	TOPMed
LMBR1	H0Y6V6	p.Ser515Leu	rs749544877	missense variant	-	NC_000007.14:g.156684124G>A	ExAC,gnomAD
LMBR1	H0Y6V6	p.Thr517Arg	rs1451945196	missense variant	-	NC_000007.14:g.156684118G>C	TOPMed
LMBR1	H0Y6V6	p.Ala518Pro	rs775532053	missense variant	-	NC_000007.14:g.156684116C>G	ExAC,gnomAD
LMBR1	H0Y6V6	p.Pro520Ser	rs1489697960	missense variant	-	NC_000007.14:g.156684110G>A	gnomAD
LMBR1	H0Y6V6	p.Gln526Arg	rs1316902866	missense variant	-	NC_000007.14:g.156684091T>C	gnomAD
LMBR1	H0Y6V6	p.Ala528Ser	rs1302395381	missense variant	-	NC_000007.14:g.156684086C>A	TOPMed
LMBR1	H0Y6V6	p.Leu529Arg	rs1305487209	missense variant	-	NC_000007.14:g.156684082A>C	TOPMed,gnomAD
LMBR1	H0Y6V6	p.Leu529Pro	rs1305487209	missense variant	-	NC_000007.14:g.156684082A>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Pro2Leu	rs148624449	missense variant	-	NC_000019.10:g.51719924G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Pro2His	rs148624449	missense variant	-	NC_000019.10:g.51719924G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Pro2Arg	rs148624449	missense variant	-	NC_000019.10:g.51719924G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg8Cys	rs1365304121	missense variant	-	NC_000019.10:g.51719907G>A	gnomAD
HAS1	M0R2V0	p.Arg8His	rs750030433	missense variant	-	NC_000019.10:g.51719906C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ser9Phe	rs1437161952	missense variant	-	NC_000019.10:g.51719903G>A	gnomAD
HAS1	M0R2V0	p.Gln10Lys	rs764850348	missense variant	-	NC_000019.10:g.51719901G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Gln11Ter	rs1456263630	stop gained	-	NC_000019.10:g.51719898G>A	gnomAD
HAS1	M0R2V0	p.Asp12Gly	rs1431789224	missense variant	-	NC_000019.10:g.51719894T>C	gnomAD
HAS1	M0R2V0	p.Asp12Asn	rs536327922	missense variant	-	NC_000019.10:g.51719895C>T	1000Genomes,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala13Thr	rs1424967285	missense variant	-	NC_000019.10:g.51719892C>T	gnomAD
HAS1	M0R2V0	p.Ala13Glu	rs865807912	missense variant	-	NC_000019.10:g.51719891G>T	gnomAD
HAS1	M0R2V0	p.Ala13Ser	rs1424967285	missense variant	-	NC_000019.10:g.51719892C>A	gnomAD
HAS1	M0R2V0	p.Pro14Ser	rs1479266226	missense variant	-	NC_000019.10:g.51719889G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Pro16Ser	rs1465402531	missense variant	-	NC_000019.10:g.51719883G>A	gnomAD
HAS1	M0R2V0	p.Pro16Leu	rs372499286	missense variant	-	NC_000019.10:g.51719882G>A	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Thr17Asn	rs1310189224	missense variant	-	NC_000019.10:g.51719879G>T	gnomAD
HAS1	M0R2V0	p.Pro18Leu	rs1387446571	missense variant	-	NC_000019.10:g.51719876G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Pro18Ser	rs753575106	missense variant	-	NC_000019.10:g.51719877G>A	ExAC
HAS1	M0R2V0	p.Ala19Val	rs1277608783	missense variant	-	NC_000019.10:g.51719873G>A	gnomAD
HAS1	M0R2V0	p.Ala20Val	rs1373021044	missense variant	-	NC_000019.10:g.51719870G>A	gnomAD
HAS1	M0R2V0	p.Ala20Thr	rs764154491	missense variant	-	NC_000019.10:g.51719871C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Cys21Arg	rs7248778	missense variant	-	NC_000019.10:g.51719868A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Cys21Tyr	rs1365367701	missense variant	-	NC_000019.10:g.51719867C>T	gnomAD
HAS1	M0R2V0	p.Arg22Ser	rs1290244653	missense variant	-	NC_000019.10:g.51719865G>T	gnomAD
HAS1	M0R2V0	p.Cys23Gly	rs1372477092	missense variant	-	NC_000019.10:g.51719862A>C	TOPMed
HAS1	M0R2V0	p.Cys23Ter	rs775720322	stop gained	-	NC_000019.10:g.51719860G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Cys23Tyr	rs1358248057	missense variant	-	NC_000019.10:g.51719861C>T	gnomAD
HAS1	M0R2V0	p.Ser24Tyr	rs1436982033	missense variant	-	NC_000019.10:g.51719858G>T	gnomAD
HAS1	M0R2V0	p.Gly25Ser	rs1188555928	missense variant	-	NC_000019.10:g.51719856C>T	gnomAD
HAS1	M0R2V0	p.Gly25Asp	rs1450147097	missense variant	-	NC_000019.10:g.51719855C>T	gnomAD
HAS1	M0R2V0	p.Ala27Thr	rs1238284293	missense variant	-	NC_000019.10:g.51719850C>T	gnomAD
HAS1	M0R2V0	p.Ala27Asp	rs1210482320	missense variant	-	NC_000019.10:g.51719849G>T	gnomAD
HAS1	M0R2V0	p.Arg28Gly	rs189092221	missense variant	-	NC_000019.10:g.51719847G>C	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg28Trp	rs189092221	missense variant	-	NC_000019.10:g.51719847G>A	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg28Gln	rs1227635183	missense variant	-	NC_000019.10:g.51719846C>T	gnomAD
HAS1	M0R2V0	p.Arg29Gly	rs1297044128	missense variant	-	NC_000019.10:g.51719844T>C	gnomAD
HAS1	M0R2V0	p.Arg29Met	rs1393814525	missense variant	-	NC_000019.10:g.51719843C>A	gnomAD
HAS1	M0R2V0	p.Thr32Ile	rs1416999355	missense variant	-	NC_000019.10:g.51719834G>A	gnomAD
HAS1	M0R2V0	p.Ala34Val	rs982116393	missense variant	-	NC_000019.10:g.51719828G>A	gnomAD
HAS1	M0R2V0	p.Ala34Asp	rs982116393	missense variant	-	NC_000019.10:g.51719828G>T	gnomAD
HAS1	M0R2V0	p.Leu38Phe	rs945398316	missense variant	-	NC_000019.10:g.51719817G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Ile39Ser	rs749727848	missense variant	-	NC_000019.10:g.51719813A>C	ExAC,gnomAD
HAS1	M0R2V0	p.Ile39Asn	rs749727848	missense variant	-	NC_000019.10:g.51719813A>T	ExAC,gnomAD
HAS1	M0R2V0	p.Met43Lys	rs777986310	missense variant	-	NC_000019.10:g.51719801A>T	ExAC,gnomAD
HAS1	M0R2V0	p.Met43Val	rs1414795486	missense variant	-	NC_000019.10:g.51719802T>C	gnomAD
HAS1	M0R2V0	p.Trp45Cys	rs748534994	missense variant	-	NC_000019.10:g.51719794C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp45Leu	rs201563187	missense variant	-	NC_000019.10:g.51719795C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp45Arg	rs1486517062	missense variant	-	NC_000019.10:g.51719796A>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala46Val	rs532860063	missense variant	-	NC_000019.10:g.51719792G>A	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Tyr47Ter	rs757954153	stop gained	-	NC_000019.10:g.51719788G>C	ExAC,gnomAD
HAS1	M0R2V0	p.Tyr47Cys	rs747124267	missense variant	-	NC_000019.10:g.51719789T>C	TOPMed
HAS1	M0R2V0	p.Ala49Val	rs1256372726	missense variant	-	NC_000019.10:g.51719783G>A	TOPMed
HAS1	M0R2V0	p.Gly50Trp	rs866388647	missense variant	-	NC_000019.10:g.51719781C>A	gnomAD
HAS1	M0R2V0	p.Gly50Arg	rs866388647	missense variant	-	NC_000019.10:g.51719781C>T	gnomAD
HAS1	M0R2V0	p.Val51Met	rs749903902	missense variant	-	NC_000019.10:g.51719778C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Pro52Arg	rs1234795609	missense variant	-	NC_000019.10:g.51719774G>C	gnomAD
HAS1	M0R2V0	p.Leu53Pro	rs1307760292	missense variant	-	NC_000019.10:g.51719771A>G	gnomAD
HAS1	M0R2V0	p.Ala54Thr	rs1410846982	missense variant	-	NC_000019.10:g.51719769C>T	gnomAD
HAS1	M0R2V0	p.Ser55Phe	rs1292362654	missense variant	-	NC_000019.10:g.51719765G>A	gnomAD
HAS1	M0R2V0	p.Asp56Glu	rs1369177527	missense variant	-	NC_000019.10:g.51719761A>C	gnomAD
HAS1	M0R2V0	p.Arg57Cys	rs1389285381	missense variant	-	NC_000019.10:g.51719760G>A	TOPMed
HAS1	M0R2V0	p.Tyr58His	rs1167331319	missense variant	-	NC_000019.10:g.51719757A>G	gnomAD
HAS1	M0R2V0	p.Gly59Asp	rs1411533205	missense variant	-	NC_000019.10:g.51719753C>T	gnomAD
HAS1	M0R2V0	p.Gly59Ser	rs1450076013	missense variant	-	NC_000019.10:g.51719754C>T	TOPMed
HAS1	M0R2V0	p.Ala62Val	rs1248820285	missense variant	-	NC_000019.10:g.51719744G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala62Asp	rs1248820285	missense variant	-	NC_000019.10:g.51719744G>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Phe63Leu	rs1210699688	missense variant	-	NC_000019.10:g.51719740G>C	gnomAD
HAS1	M0R2V0	p.Tyr66Ser	rs763732815	missense variant	-	NC_000019.10:g.51719732T>G	ExAC,gnomAD
HAS1	M0R2V0	p.Tyr66Cys	rs763732815	missense variant	-	NC_000019.10:g.51719732T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Gly67Glu	rs756111781	missense variant	-	NC_000019.10:g.51719729C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ala72Glu	rs1403243873	missense variant	-	NC_000019.10:g.51719714G>T	TOPMed
HAS1	M0R2V0	p.His73Asn	rs767537813	missense variant	-	NC_000019.10:g.51719712G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu74Val	rs867224861	missense variant	-	NC_000019.10:g.51719709G>C	gnomAD
HAS1	M0R2V0	p.Leu74Met	rs867224861	missense variant	-	NC_000019.10:g.51719709G>T	gnomAD
HAS1	M0R2V0	p.Gln77His	rs759725408	missense variant	-	NC_000019.10:g.51719698C>G	ExAC
HAS1	M0R2V0	p.Ser78Arg	rs774565151	missense variant	-	NC_000019.10:g.51719695G>C	ExAC,gnomAD
HAS1	M0R2V0	p.Tyr82Cys	rs773628225	missense variant	-	NC_000019.10:g.51719684T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Leu83Val	rs1386746208	missense variant	-	NC_000019.10:g.51719682G>C	gnomAD
HAS1	M0R2V0	p.His85Tyr	rs1392119779	missense variant	-	NC_000019.10:g.51719676G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg86Gln	rs1029222101	missense variant	-	NC_000019.10:g.51719672C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg86Leu	rs1029222101	missense variant	-	NC_000019.10:g.51719672C>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg87Trp	rs1454106346	missense variant	-	NC_000019.10:g.51719670G>A	gnomAD
HAS1	M0R2V0	p.Val88Ala	rs981832532	missense variant	-	NC_000019.10:g.51719666A>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Val88Gly	rs981832532	missense variant	-	NC_000019.10:g.51719666A>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala89Val	rs1206433419	missense variant	-	NC_000019.10:g.51719663G>A	TOPMed
HAS1	M0R2V0	p.Ala90Pro	rs1253565120	missense variant	-	NC_000019.10:g.51719661C>G	gnomAD
HAS1	M0R2V0	p.Ala91Val	rs769147211	missense variant	-	NC_000019.10:g.51719657G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala91Pro	rs1026879054	missense variant	-	NC_000019.10:g.51719658C>G	TOPMed
HAS1	M0R2V0	p.Ala91Glu	rs769147211	missense variant	-	NC_000019.10:g.51719657G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala92Thr	rs1205406505	missense variant	-	NC_000019.10:g.51719655C>T	gnomAD
HAS1	M0R2V0	p.Gly94Arg	rs995831215	missense variant	-	NC_000019.10:g.51719649C>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Pro95Ser	rs745444651	missense variant	-	NC_000019.10:g.51719646G>A	ExAC
HAS1	M0R2V0	p.Asp97Val	rs1432982307	missense variant	-	NC_000019.10:g.51719639T>A	gnomAD
HAS1	M0R2V0	p.Ala99Val	rs58496877	missense variant	-	NC_000019.10:g.51719633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Thr100Ile	rs1321433892	missense variant	-	NC_000019.10:g.51719630G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala101Glu	rs1400368491	missense variant	-	NC_000019.10:g.51719627G>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala101Thr	rs756942910	missense variant	-	NC_000019.10:g.51719628C>T	ExAC
HAS1	M0R2V0	p.Arg102Leu	rs1170536716	missense variant	-	NC_000019.10:g.51719624C>A	gnomAD
HAS1	M0R2V0	p.Ser103Arg	rs563352546	missense variant	-	NC_000019.10:g.51719620A>C	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val104Met	rs755907544	missense variant	-	NC_000019.10:g.51719619C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala105Ser	rs1226199823	missense variant	-	NC_000019.10:g.51719616C>A	TOPMed
HAS1	M0R2V0	p.Ala105Glu	rs1329639804	missense variant	-	NC_000019.10:g.51719615G>T	TOPMed
HAS1	M0R2V0	p.Ala105Val	rs1329639804	missense variant	-	NC_000019.10:g.51719615G>A	TOPMed
HAS1	M0R2V0	p.Thr107Ser	rs751700570	missense variant	-	NC_000019.10:g.51719609G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Thr107Ala	rs1210413353	missense variant	-	NC_000019.10:g.51719610T>C	TOPMed
HAS1	M0R2V0	p.Thr107Ile	rs751700570	missense variant	-	NC_000019.10:g.51719609G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ile108Ser	rs1488156952	missense variant	-	NC_000019.10:g.51719606A>C	TOPMed
HAS1	M0R2V0	p.Ala110Thr	rs748532709	missense variant	-	NC_000019.10:g.51719601C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr111Phe	rs544953513	missense variant	-	NC_000019.10:g.51719597T>A	1000Genomes,ExAC
HAS1	M0R2V0	p.Ala116Thr	rs906603323	missense variant	-	NC_000019.10:g.51719583C>T	gnomAD
HAS1	M0R2V0	p.Ala116Gly	rs1200168302	missense variant	-	NC_000019.10:g.51719582G>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr117Phe	rs1283069684	missense variant	-	NC_000019.10:g.51719579T>A	gnomAD
HAS1	M0R2V0	p.Leu118Arg	rs1226899966	missense variant	-	NC_000019.10:g.51719576A>C	gnomAD
HAS1	M0R2V0	p.Arg119Ser	rs373808928	missense variant	-	NC_000019.10:g.51719574G>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu122Pro	rs1348494850	missense variant	-	NC_000019.10:g.51719564A>G	TOPMed
HAS1	M0R2V0	p.Ser124Cys	rs1433002351	missense variant	-	NC_000019.10:g.51719558G>C	gnomAD
HAS1	M0R2V0	p.Arg126Cys	rs370739665	missense variant	-	NC_000019.10:g.51719553G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg126Gly	rs370739665	missense variant	-	NC_000019.10:g.51719553G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg126Ser	rs370739665	missense variant	-	NC_000019.10:g.51719553G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala127Ser	rs1395225396	missense variant	-	NC_000019.10:g.51719550C>A	gnomAD
HAS1	M0R2V0	p.Tyr130His	rs1314613205	missense variant	-	NC_000019.10:g.51719541A>G	gnomAD
HAS1	M0R2V0	p.Tyr130Ser	rs372785460	missense variant	-	NC_000019.10:g.51719540T>G	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Pro131Gln	rs1389505004	missense variant	-	NC_000019.10:g.51719537G>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg132Cys	rs1167931448	missense variant	-	NC_000019.10:g.51719535G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala133Thr	rs200445289	missense variant	-	NC_000019.10:g.51719532C>T	1000Genomes,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala133Val	rs1366346615	missense variant	-	NC_000019.10:g.51719531G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg134Pro	rs917919976	missense variant	-	NC_000019.10:g.51719528C>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Leu135Met	rs1482984255	missense variant	-	NC_000019.10:g.51719526G>T	gnomAD
HAS1	M0R2V0	p.Arg136Leu	rs1274331016	missense variant	-	NC_000019.10:g.51719522C>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Val137Asp	rs1354406773	missense variant	-	NC_000019.10:g.51719519A>T	gnomAD
HAS1	M0R2V0	p.Val137Phe	rs867157763	missense variant	-	NC_000019.10:g.51719520C>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Met139Val	rs1357638398	missense variant	-	NC_000019.10:g.51719514T>C	gnomAD
HAS1	M0R2V0	p.Val140Leu	rs1314433976	missense variant	-	NC_000019.10:g.51719511C>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Gly143Ser	rs769167568	missense variant	-	NC_000019.10:g.51719502C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg145His	rs202029733	missense variant	-	NC_000019.10:g.51719495C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala146Thr	rs1411138606	missense variant	-	NC_000019.10:g.51719493C>T	gnomAD
HAS1	M0R2V0	p.Glu147Gly	rs1306949855	missense variant	-	NC_000019.10:g.51719489T>C	TOPMed
HAS1	M0R2V0	p.Asp148His	rs982955527	missense variant	-	NC_000019.10:g.51719487C>G	gnomAD
HAS1	M0R2V0	p.Asp148Asn	rs982955527	missense variant	-	NC_000019.10:g.51719487C>T	gnomAD
HAS1	M0R2V0	p.Leu149Phe	rs1475305732	missense variant	-	NC_000019.10:g.51719484G>A	gnomAD
HAS1	M0R2V0	p.Leu149His	rs1419594076	missense variant	-	NC_000019.10:g.51719483A>T	gnomAD
HAS1	M0R2V0	p.Tyr150His	rs1472508608	missense variant	-	NC_000019.10:g.51719481A>G	gnomAD
HAS1	M0R2V0	p.Met151Ile	rs748805696	missense variant	-	NC_000019.10:g.51719476C>G	ExAC,gnomAD
HAS1	M0R2V0	p.Met151Val	rs533830163	missense variant	-	NC_000019.10:g.51719478T>C	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val152Leu	rs1281999229	missense variant	-	NC_000019.10:g.51719475C>G	TOPMed
HAS1	M0R2V0	p.Asp153Ala	rs1289191504	missense variant	-	NC_000019.10:g.51719471T>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Asp153Gly	rs1289191504	missense variant	-	NC_000019.10:g.51719471T>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Met154Lys	rs1204343944	missense variant	-	NC_000019.10:g.51719468A>T	TOPMed
HAS1	M0R2V0	p.Met154Ile	rs1214422260	missense variant	-	NC_000019.10:g.51719467C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Met154Thr	rs1204343944	missense variant	-	NC_000019.10:g.51719468A>G	TOPMed
HAS1	M0R2V0	p.Arg156His	rs777326196	missense variant	-	NC_000019.10:g.51719462C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg156Leu	rs777326196	missense variant	-	NC_000019.10:g.51719462C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Glu157Ter	rs1235901573	stop gained	-	NC_000019.10:g.51719460C>A	TOPMed
HAS1	M0R2V0	p.Glu162Ter	rs748011855	stop gained	-	NC_000019.10:g.51719445C>A	ExAC,gnomAD
HAS1	M0R2V0	p.Glu162Val	rs781074459	missense variant	-	NC_000019.10:g.51719444T>A	ExAC,gnomAD
HAS1	M0R2V0	p.Asp163Glu	rs1280041388	missense variant	-	NC_000019.10:g.51719440G>T	gnomAD
HAS1	M0R2V0	p.Pro164Thr	rs1444337804	missense variant	-	NC_000019.10:g.51719439G>T	gnomAD
HAS1	M0R2V0	p.Pro164Ser	rs1444337804	missense variant	-	NC_000019.10:g.51719439G>A	gnomAD
HAS1	M0R2V0	p.Ala165Ser	rs1322248170	missense variant	-	NC_000019.10:g.51719436C>A	gnomAD
HAS1	M0R2V0	p.Ala165Val	rs1461516115	missense variant	-	NC_000019.10:g.51719435G>A	gnomAD
HAS1	M0R2V0	p.Thr166Arg	rs1182853444	missense variant	-	NC_000019.10:g.51719432G>C	TOPMed
HAS1	M0R2V0	p.Val168Glu	rs1448266801	missense variant	-	NC_000019.10:g.51719426A>T	TOPMed
HAS1	M0R2V0	p.Val168Leu	rs758448344	missense variant	-	NC_000019.10:g.51719427C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val168Met	rs758448344	missense variant	-	NC_000019.10:g.51719427C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly171Val	rs750511594	missense variant	-	NC_000019.10:g.51719417C>A	ExAC,gnomAD
HAS1	M0R2V0	p.Asn172Tyr	rs1168450962	missense variant	-	NC_000019.10:g.51719415T>A	TOPMed
HAS1	M0R2V0	p.Asn172Ser	rs765437667	missense variant	-	NC_000019.10:g.51719414T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Tyr173Asp	rs1246651108	missense variant	-	NC_000019.10:g.51719412A>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr173Asn	rs1246651108	missense variant	-	NC_000019.10:g.51719412A>T	TOPMed,gnomAD
HAS1	M0R2V0	p.His174Gln	rs202173515	missense variant	-	NC_000019.10:g.51719407G>C	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gln175Lys	rs894394916	missense variant	-	NC_000019.10:g.51719406G>T	gnomAD
HAS1	M0R2V0	p.Gln175Pro	rs1266458958	missense variant	-	NC_000019.10:g.51719405T>G	gnomAD
HAS1	M0R2V0	p.Gln175Ter	rs894394916	stop gained	-	NC_000019.10:g.51719406G>A	gnomAD
HAS1	M0R2V0	p.Trp177Arg	rs1208395485	missense variant	-	NC_000019.10:g.51719400A>G	gnomAD
HAS1	M0R2V0	p.Trp177Ter	rs1316082360	stop gained	-	NC_000019.10:g.51719399C>T	gnomAD
HAS1	M0R2V0	p.Glu178Lys	rs1284644379	missense variant	-	NC_000019.10:g.51719397C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Pro179His	rs754208574	missense variant	-	NC_000019.10:g.51719393G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ala180Val	rs1342708474	missense variant	-	NC_000019.10:g.51719390G>A	gnomAD
HAS1	M0R2V0	p.Ala184Thr	rs554437003	missense variant	-	NC_000019.10:g.51719379C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly188Arg	rs1429544334	missense variant	-	NC_000019.10:g.51719367C>T	gnomAD
HAS1	M0R2V0	p.Gly188Val	rs1345443435	missense variant	-	NC_000019.10:g.51719366C>A	gnomAD
HAS1	M0R2V0	p.Ala189Thr	rs772596332	missense variant	-	NC_000019.10:g.51719364C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr190Phe	rs762435007	missense variant	-	NC_000019.10:g.51719360T>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg191Pro	rs1174881551	missense variant	-	NC_000019.10:g.51719357C>G	gnomAD
HAS1	M0R2V0	p.Val193Gly	rs1002679135	missense variant	-	NC_000019.10:g.51719351A>C	gnomAD
HAS1	M0R2V0	p.Val193Leu	rs772761968	missense variant	-	NC_000019.10:g.51719352C>A	ExAC,gnomAD
HAS1	M0R2V0	p.Val193Ala	rs1002679135	missense variant	-	NC_000019.10:g.51719351A>G	gnomAD
HAS1	M0R2V0	p.Ala195Val	rs1486287270	missense variant	-	NC_000019.10:g.51719345G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala195Gly	rs1486287270	missense variant	-	NC_000019.10:g.51719345G>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Glu196Asp	rs1217676447	missense variant	-	NC_000019.10:g.51719341C>A	gnomAD
HAS1	M0R2V0	p.Asp197Glu	rs1310282531	missense variant	-	NC_000019.10:g.51719338A>T	gnomAD
HAS1	M0R2V0	p.Pro198Ser	rs747733820	missense variant	-	NC_000019.10:g.51719337G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Pro198Ala	rs747733820	missense variant	-	NC_000019.10:g.51719337G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg200Gln	rs768521219	missense variant	-	NC_000019.10:g.51719330C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ala202Ser	rs1362136678	missense variant	-	NC_000019.10:g.51719325C>A	gnomAD
HAS1	M0R2V0	p.Val203Met	rs746790040	missense variant	-	NC_000019.10:g.51719322C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Glu204Gln	rs1473788726	missense variant	-	NC_000019.10:g.51719319C>G	gnomAD
HAS1	M0R2V0	p.Arg210Cys	rs757504132	missense variant	-	NC_000019.10:g.51719301G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg210His	rs1429267430	missense variant	-	NC_000019.10:g.51719300C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Val213Leu	rs761064565	missense variant	-	NC_000019.10:g.51719292C>G	ExAC,gnomAD
HAS1	M0R2V0	p.Cys214Ser	rs753097128	missense variant	-	NC_000019.10:g.51719288C>G	ExAC,gnomAD
HAS1	M0R2V0	p.Val215Leu	rs370795750	missense variant	-	NC_000019.10:g.51719286C>A	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val215Met	rs370795750	missense variant	-	NC_000019.10:g.51719286C>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gln217Ter	rs375831712	stop gained	-	NC_000019.10:g.51719280G>A	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gln217Arg	rs1272399534	missense variant	-	NC_000019.10:g.51719279T>C	gnomAD
HAS1	M0R2V0	p.Arg218Ser	rs374038790	missense variant	-	NC_000019.10:g.51719277G>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg218His	rs769387541	missense variant	-	NC_000019.10:g.51719276C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Trp219Leu	rs761579314	missense variant	-	NC_000019.10:g.51719273C>A	ExAC,gnomAD
HAS1	M0R2V0	p.Trp219Gly	rs1226296232	missense variant	-	NC_000019.10:g.51719274A>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Gly220Val	rs148796716	missense variant	-	NC_000019.10:g.51719270C>A	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Lys222Asn	rs568930180	missense variant	-	NC_000019.10:g.51719263C>G	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Lys222Asn	rs568930180	missense variant	-	NC_000019.10:g.51719263C>A	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Arg223Pro	rs771909540	missense variant	-	NC_000019.10:g.51719261C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg223Gly	rs949986992	missense variant	-	NC_000019.10:g.51719262G>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Glu224Asp	rs778990103	missense variant	-	NC_000019.10:g.51719257C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val225Ile	rs200667452	missense variant	-	NC_000019.10:g.51719256C>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Met226Thr	rs144360076	missense variant	-	NC_000019.10:g.51719252A>G	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Met226Val	rs1418866059	missense variant	-	NC_000019.10:g.51719253T>C	gnomAD
HAS1	M0R2V0	p.Met226Ile	rs778031457	missense variant	-	NC_000019.10:g.51719251C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr227Asn	rs756343125	missense variant	-	NC_000019.10:g.51719250A>T	ExAC,gnomAD
HAS1	M0R2V0	p.Thr228Ile	rs755469539	missense variant	-	NC_000019.10:g.51719246G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Thr228Ala	rs767853866	missense variant	-	NC_000019.10:g.51719247T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Ala229Asp	rs555126388	missense variant	-	NC_000019.10:g.51719243G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala229Gly	rs555126388	missense variant	-	NC_000019.10:g.51719243G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Phe230Leu	rs761482836	missense variant	-	NC_000019.10:g.51719239G>C	ExAC,gnomAD
HAS1	M0R2V0	p.Lys231Arg	rs11558146	missense variant	-	NC_000019.10:g.51719237T>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala232Glu	rs1456358067	missense variant	-	NC_000019.10:g.51719234G>T	TOPMed
HAS1	M0R2V0	p.Gly234Arg	rs550695209	missense variant	-	NC_000019.10:g.51719229C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ser236Leu	rs1309628554	missense variant	-	NC_000019.10:g.51719222G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Ser236Pro	rs1322739264	missense variant	-	NC_000019.10:g.51719223A>G	TOPMed
HAS1	M0R2V0	p.Ser236Trp	rs1309628554	missense variant	-	NC_000019.10:g.51719222G>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Asp238Asn	rs1306883226	missense variant	-	NC_000019.10:g.51719217C>T	gnomAD
HAS1	M0R2V0	p.Val240Met	rs775182179	missense variant	-	NC_000019.10:g.51719211C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val240Leu	rs775182179	missense variant	-	NC_000019.10:g.51719211C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val242Ile	rs1295059854	missense variant	-	NC_000019.10:g.51717193C>T	TOPMed
HAS1	M0R2V0	p.Asp244Gly	rs1200959123	missense variant	-	NC_000019.10:g.51717186T>C	TOPMed
HAS1	M0R2V0	p.Asp244His	rs376113074	missense variant	-	NC_000019.10:g.51717187C>G	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ser245Leu	rs143266369	missense variant	-	NC_000019.10:g.51717183G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ser245Trp	rs143266369	missense variant	-	NC_000019.10:g.51717183G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Asp246Asn	rs1234251716	missense variant	-	NC_000019.10:g.51717181C>T	gnomAD
HAS1	M0R2V0	p.Arg248Gly	rs759438598	missense variant	-	NC_000019.10:g.51717175T>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Asp250Asn	rs1226288844	missense variant	-	NC_000019.10:g.51717169C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Met252Val	rs774116413	missense variant	-	NC_000019.10:g.51717163T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Ala253Thr	rs770866299	missense variant	-	NC_000019.10:g.51717160C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu257Phe	rs78761398	missense variant	-	NC_000019.10:g.51717148G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val258Met	rs750095254	missense variant	-	NC_000019.10:g.51717145C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg259Gln	rs75142551	missense variant	-	NC_000019.10:g.51717141C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg259Trp	rs781516429	missense variant	-	NC_000019.10:g.51717142G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val260Leu	rs1474179749	missense variant	-	NC_000019.10:g.51717139C>A	gnomAD
HAS1	M0R2V0	p.Asp262Val	rs1372133879	missense variant	-	NC_000019.10:g.51717132T>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Glu263Ter	rs759007645	stop gained	-	NC_000019.10:g.51717130C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Glu263Lys	rs759007645	missense variant	-	NC_000019.10:g.51717130C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Asp264Glu	rs750914461	missense variant	-	NC_000019.10:g.51717125G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Pro265Leu	rs779268942	missense variant	-	NC_000019.10:g.51717123G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Arg266Gly	rs147158919	missense variant	-	NC_000019.10:g.51717121G>C	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg266Trp	rs147158919	missense variant	-	NC_000019.10:g.51717121G>A	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg266Gln	rs530794115	missense variant	-	NC_000019.10:g.51717120C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val267Leu	rs372673212	missense variant	-	NC_000019.10:g.51717118C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val267Ile	rs372673212	missense variant	-	NC_000019.10:g.51717118C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala269Thr	rs554817156	missense variant	-	NC_000019.10:g.51717112C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val270Leu	rs764755611	missense variant	-	NC_000019.10:g.51717109C>G	ExAC,gnomAD
HAS1	M0R2V0	p.Val270Ile	rs764755611	missense variant	-	NC_000019.10:g.51717109C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Gly271Cys	rs1214541129	missense variant	-	NC_000019.10:g.51717106C>A	TOPMed
HAS1	M0R2V0	p.Asp273Ala	rs1395191832	missense variant	-	NC_000019.10:g.51717099T>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Asp273Val	rs1395191832	missense variant	-	NC_000019.10:g.51717099T>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Val274Met	rs768928691	missense variant	-	NC_000019.10:g.51717097C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg275Gln	rs137939869	missense variant	-	NC_000019.10:g.51717093C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg275Trp	rs948729841	missense variant	-	NC_000019.10:g.51717094G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Ile276Phe	rs772616275	missense variant	-	NC_000019.10:g.51717091T>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ile276Leu	rs772616275	missense variant	-	NC_000019.10:g.51717091T>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ile276Thr	rs746207145	missense variant	-	NC_000019.10:g.51717090A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Ile276Val	rs772616275	missense variant	-	NC_000019.10:g.51717091T>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Asn278Lys	rs752261227	missense variant	-	NC_000019.10:g.51717083G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Pro279Leu	rs780498466	missense variant	-	NC_000019.10:g.51717081G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Asp281Gly	rs1193284149	missense variant	-	NC_000019.10:g.51717075T>C	gnomAD
HAS1	M0R2V0	p.Val284Ile	rs751162741	missense variant	-	NC_000019.10:g.51717067C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val284Phe	rs751162741	missense variant	-	NC_000019.10:g.51717067C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ser285Cys	rs1361181939	missense variant	-	NC_000019.10:g.51717064T>A	TOPMed
HAS1	M0R2V0	p.Ser288Asn	rs956193883	missense variant	-	NC_000019.10:g.51717054C>T	TOPMed
HAS1	M0R2V0	p.Ser289Ile	rs1335119558	missense variant	-	NC_000019.10:g.51717051C>A	gnomAD
HAS1	M0R2V0	p.Arg291Ter	rs762776728	stop gained	-	NC_000019.10:g.51717046G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg291Gln	rs200078680	missense variant	-	NC_000019.10:g.51717045C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp293Ter	rs1163829559	stop gained	-	NC_000019.10:g.51717038C>T	gnomAD
HAS1	M0R2V0	p.Phe296Tyr	rs1462272261	missense variant	-	NC_000019.10:g.51717030A>T	gnomAD
HAS1	M0R2V0	p.Asn297Ser	rs765234716	missense variant	-	NC_000019.10:g.51717027T>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Glu299Gln	rs1470025626	missense variant	-	NC_000019.10:g.51717022C>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg300Leu	rs150290681	missense variant	-	NC_000019.10:g.51717018C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg300Trp	rs761590658	missense variant	-	NC_000019.10:g.51717019G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg300Gln	rs150290681	missense variant	-	NC_000019.10:g.51717018C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg300Pro	rs150290681	missense variant	-	NC_000019.10:g.51717018C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gln303Leu	rs1451793541	missense variant	-	NC_000019.10:g.51717009T>A	TOPMed
HAS1	M0R2V0	p.Ser304Arg	rs760818172	missense variant	-	NC_000019.10:g.51717005G>C	ExAC,gnomAD
HAS1	M0R2V0	p.Ser304Gly	rs1043616888	missense variant	-	NC_000019.10:g.51717007T>C	TOPMed
HAS1	M0R2V0	p.Ser304Arg	rs760818172	missense variant	-	NC_000019.10:g.51717005G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Tyr305His	rs201369230	missense variant	-	NC_000019.10:g.51717004A>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr305Asp	rs201369230	missense variant	-	NC_000019.10:g.51717004A>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.His307Arg	rs746297042	missense variant	-	NC_000019.10:g.51716997T>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val309Ala	rs1421649097	missense variant	-	NC_000019.10:g.51716991A>G	TOPMed
HAS1	M0R2V0	p.Cys311Arg	rs541103037	missense variant	-	NC_000019.10:g.51716986A>G	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Ser313Arg	rs1280134645	missense variant	-	NC_000019.10:g.51716978G>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Ser313Asn	rs771470487	missense variant	-	NC_000019.10:g.51716979C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Gly314Asp	rs780774711	missense variant	-	NC_000019.10:g.51716976C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly314Ser	rs749715354	missense variant	-	NC_000019.10:g.51716977C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Gly314Val	rs780774711	missense variant	-	NC_000019.10:g.51716976C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Pro315Ser	rs1324765570	missense variant	-	NC_000019.10:g.51716974G>A	gnomAD
HAS1	M0R2V0	p.Gly317Ala	rs764188814	missense variant	-	NC_000019.10:g.51716388C>G	ExAC,gnomAD
HAS1	M0R2V0	p.Tyr319His	rs968322553	missense variant	-	NC_000019.10:g.51716383A>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr319Cys	rs752824314	missense variant	-	NC_000019.10:g.51716382T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Arg320Gly	rs767660755	missense variant	-	NC_000019.10:g.51716380T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Asn321Ser	rs1413323016	missense variant	-	NC_000019.10:g.51716376T>C	gnomAD
HAS1	M0R2V0	p.Leu323Phe	rs759824177	missense variant	-	NC_000019.10:g.51716371G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Gln325Lys	rs1237924074	missense variant	-	NC_000019.10:g.51716365G>T	gnomAD
HAS1	M0R2V0	p.Phe327Leu	rs766590139	missense variant	-	NC_000019.10:g.51716357A>T	ExAC,gnomAD
HAS1	M0R2V0	p.Leu328Phe	rs148269958	missense variant	-	NC_000019.10:g.51716356G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala330Gly	rs770298418	missense variant	-	NC_000019.10:g.51716349G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp331Cys	rs775002954	missense variant	-	NC_000019.10:g.51716345C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp331Ter	rs1460319414	stop gained	-	NC_000019.10:g.51716346C>T	TOPMed
HAS1	M0R2V0	p.Tyr332Ter	rs745349892	stop gained	-	NC_000019.10:g.51716342G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Gln334Ter	rs778493834	stop gained	-	NC_000019.10:g.51716338G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Phe336Leu	rs770601650	missense variant	-	NC_000019.10:g.51716332A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Gly338Asp	rs749046036	missense variant	-	NC_000019.10:g.51716325C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly338Arg	rs1188628564	missense variant	-	NC_000019.10:g.51716326C>G	gnomAD
HAS1	M0R2V0	p.Gly338Ser	rs1188628564	missense variant	-	NC_000019.10:g.51716326C>T	gnomAD
HAS1	M0R2V0	p.Thr339Ile	rs1448827488	missense variant	-	NC_000019.10:g.51716322G>A	TOPMed
HAS1	M0R2V0	p.Thr342Ser	rs781256537	missense variant	-	NC_000019.10:g.51716313G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Phe343Ser	rs1377011901	missense variant	-	NC_000019.10:g.51716310A>G	TOPMed
HAS1	M0R2V0	p.Gly344Arg	rs1229491233	missense variant	-	NC_000019.10:g.51716308C>T	gnomAD
HAS1	M0R2V0	p.Asp345Asn	rs1313761117	missense variant	-	NC_000019.10:g.51716305C>T	TOPMed
HAS1	M0R2V0	p.Arg347Gln	rs756827225	missense variant	-	NC_000019.10:g.51716298C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg347Trp	rs191873019	missense variant	-	NC_000019.10:g.51716299G>A	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu349Ile	rs750817116	missense variant	-	NC_000019.10:g.51716293G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Thr350Asn	rs765536727	missense variant	-	NC_000019.10:g.51716289G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Thr350Ile	rs765536727	missense variant	-	NC_000019.10:g.51716289G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Asn351Ser	rs143134241	missense variant	-	NC_000019.10:g.51716286T>C	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg352Cys	rs759023526	missense variant	-	NC_000019.10:g.51716284G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg352His	rs773850679	missense variant	-	NC_000019.10:g.51716283C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg352Ser	rs759023526	missense variant	-	NC_000019.10:g.51716284G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu354Phe	rs1248330368	missense variant	-	NC_000019.10:g.51716278G>A	gnomAD
HAS1	M0R2V0	p.Ser355Asn	rs770490838	missense variant	-	NC_000019.10:g.51716274C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Met356Ile	rs373362989	missense variant	-	NC_000019.10:g.51716270C>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Met356Lys	rs1239593884	missense variant	-	NC_000019.10:g.51716271A>T	gnomAD
HAS1	M0R2V0	p.Gly357Arg	rs777737328	missense variant	-	NC_000019.10:g.51716269C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala359Val	rs747923567	missense variant	-	NC_000019.10:g.51716262G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Ala359Thr	rs369174105	missense variant	-	NC_000019.10:g.51716263C>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Thr360Ile	rs1315654887	missense variant	-	NC_000019.10:g.51716259G>A	gnomAD
HAS1	M0R2V0	p.Lys361Asn	rs552959486	missense variant	-	NC_000019.10:g.51714102C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Lys361Asn	rs552959486	missense variant	-	NC_000019.10:g.51714102C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr362Cys	rs1356017376	missense variant	-	NC_000019.10:g.51714100T>C	TOPMed
HAS1	M0R2V0	p.Thr363Ile	rs1280765977	missense variant	-	NC_000019.10:g.51714097G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg365Ser	rs777840555	missense variant	-	NC_000019.10:g.51714090C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg365Lys	rs1194163032	missense variant	-	NC_000019.10:g.51714091C>T	gnomAD
HAS1	M0R2V0	p.Ser366Tyr	rs756545383	missense variant	-	NC_000019.10:g.51714088G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ser366Phe	rs756545383	missense variant	-	NC_000019.10:g.51714088G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg367His	rs768198571	missense variant	-	NC_000019.10:g.51714085C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Arg367Cys	rs753002573	missense variant	-	NC_000019.10:g.51714086G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr369Cys	rs1414043971	missense variant	-	NC_000019.10:g.51714079T>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr369Phe	rs1414043971	missense variant	-	NC_000019.10:g.51714079T>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Ser370Ter	rs749958134	stop gained	-	NC_000019.10:g.51714076G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ser370Leu	rs749958134	missense variant	-	NC_000019.10:g.51714076G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Thr372Met	rs764800044	missense variant	-	NC_000019.10:g.51714070G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Pro373Leu	rs1257203882	missense variant	-	NC_000019.10:g.51714067G>A	TOPMed
HAS1	M0R2V0	p.Ser374Leu	rs140981845	missense variant	-	NC_000019.10:g.51714064G>A	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ser375Pro	rs763647290	missense variant	-	NC_000019.10:g.51714062A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Phe376Leu	rs1371813770	missense variant	-	NC_000019.10:g.51714057G>C	TOPMed
HAS1	M0R2V0	p.Phe376Ser	rs760574425	missense variant	-	NC_000019.10:g.51714058A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Arg378Pro	rs372997311	missense variant	-	NC_000019.10:g.51714052C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg378Gln	rs372997311	missense variant	-	NC_000019.10:g.51714052C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg378Trp	rs1473379062	missense variant	-	NC_000019.10:g.51714053G>A	gnomAD
HAS1	M0R2V0	p.Arg378Leu	rs372997311	missense variant	-	NC_000019.10:g.51714052C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu380Arg	rs1411067636	missense variant	-	NC_000019.10:g.51714046A>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Leu380Val	rs746343903	missense variant	-	NC_000019.10:g.51714047G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gln382Ter	rs369018422	stop gained	-	NC_000019.10:g.51714041G>A	ESP,gnomAD
HAS1	M0R2V0	p.Gln382His	rs1238990208	missense variant	-	NC_000019.10:g.51714039C>G	gnomAD
HAS1	M0R2V0	p.Thr384Arg	rs1200716890	missense variant	-	NC_000019.10:g.51714034G>C	gnomAD
HAS1	M0R2V0	p.Arg385Gly	rs548919286	missense variant	-	NC_000019.10:g.51714032G>C	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg385His	rs966863884	missense variant	-	NC_000019.10:g.51714031C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg385Ser	rs548919286	missense variant	-	NC_000019.10:g.51714032G>T	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg385Cys	rs548919286	missense variant	-	NC_000019.10:g.51714032G>A	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp386Arg	rs771052418	missense variant	-	NC_000019.10:g.51714029A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Ser387Phe	rs1227541341	missense variant	-	NC_000019.10:g.51714025G>A	gnomAD
HAS1	M0R2V0	p.Lys388Glu	rs1226798193	missense variant	-	NC_000019.10:g.51714023T>C	TOPMed
HAS1	M0R2V0	p.Ser389Leu	rs536238533	missense variant	-	NC_000019.10:g.51714019G>A	gnomAD
HAS1	M0R2V0	p.Arg392Cys	rs748560541	missense variant	-	NC_000019.10:g.51714011G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr396Ter	rs1391854917	stop gained	-	NC_000019.10:g.51713997G>T	gnomAD
HAS1	M0R2V0	p.Asn397Asp	rs781636410	missense variant	-	NC_000019.10:g.51713996T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Ala398Thr	rs1279852039	missense variant	-	NC_000019.10:g.51713993C>T	TOPMed
HAS1	M0R2V0	p.Ala398Glu	rs1416565464	missense variant	-	NC_000019.10:g.51713992G>T	gnomAD
HAS1	M0R2V0	p.Ala398Gly	rs1416565464	missense variant	-	NC_000019.10:g.51713992G>C	gnomAD
HAS1	M0R2V0	p.Trp400Gly	rs780675552	missense variant	-	NC_000019.10:g.51713987A>C	ExAC,gnomAD
HAS1	M0R2V0	p.Trp401Ter	rs1380945551	stop gained	-	NC_000019.10:g.51713982C>T	gnomAD
HAS1	M0R2V0	p.Trp401Arg	rs1470104221	missense variant	-	NC_000019.10:g.51713984A>T	gnomAD
HAS1	M0R2V0	p.Arg403Trp	rs140592950	missense variant	-	NC_000019.10:g.51713978G>A	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.His404Gln	rs763818520	missense variant	-	NC_000019.10:g.51713973G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.His404Gln	rs763818520	missense variant	-	NC_000019.10:g.51713973G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala406Glu	rs767247063	missense variant	-	NC_000019.10:g.51713968G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ala406Ser	rs752565606	missense variant	-	NC_000019.10:g.51713969C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala406Val	rs767247063	missense variant	-	NC_000019.10:g.51713968G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Ala406Thr	rs752565606	missense variant	-	NC_000019.10:g.51713969C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp407Arg	rs774316632	missense variant	-	NC_000019.10:g.51713966A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Trp407Ter	rs770854402	stop gained	-	NC_000019.10:g.51713965C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Met408Ile	rs763153477	missense variant	-	NC_000019.10:g.51713961C>G	ExAC,gnomAD
HAS1	M0R2V0	p.Thr409Ser	rs1289468576	missense variant	-	NC_000019.10:g.51713959G>C	gnomAD
HAS1	M0R2V0	p.Thr409Ala	rs1368329840	missense variant	-	NC_000019.10:g.51713960T>C	gnomAD
HAS1	M0R2V0	p.Tyr410His	rs770062149	missense variant	-	NC_000019.10:g.51713957A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Tyr410Cys	rs748279257	missense variant	-	NC_000019.10:g.51713956T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Glu411Gly	rs1361739783	missense variant	-	NC_000019.10:g.51713953T>C	gnomAD
HAS1	M0R2V0	p.Glu411Lys	rs769183113	missense variant	-	NC_000019.10:g.51713954C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Glu411Asp	rs1160531490	missense variant	-	NC_000019.10:g.51713952C>G	gnomAD
HAS1	M0R2V0	p.Ala412Glu	rs747374174	missense variant	-	NC_000019.10:g.51713950G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala412Val	rs747374174	missense variant	-	NC_000019.10:g.51713950G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val413Met	rs758772752	missense variant	-	NC_000019.10:g.51713948C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ser415Thr	rs1329764280	missense variant	-	NC_000019.10:g.51713942A>T	gnomAD
HAS1	M0R2V0	p.Pro419Ser	rs1286732298	missense variant	-	NC_000019.10:g.51713930G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Phe420Cys	rs755808630	missense variant	-	NC_000019.10:g.51713926A>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Phe421Leu	rs1345170731	missense variant	-	NC_000019.10:g.51713924A>G	gnomAD
HAS1	M0R2V0	p.Val422Glu	rs767130367	missense variant	-	NC_000019.10:g.51713920A>T	ExAC,gnomAD
HAS1	M0R2V0	p.Val422Met	rs45625331	missense variant	-	NC_000019.10:g.51713921C>T	1000Genomes,ESP,ExAC,TOPMed
HAS1	M0R2V0	p.Ala423Val	rs754838593	missense variant	-	NC_000019.10:g.51713917G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Ala423Gly	rs754838593	missense variant	-	NC_000019.10:g.51713917G>C	ExAC,gnomAD
HAS1	M0R2V0	p.Ala424Thr	rs751344880	missense variant	-	NC_000019.10:g.51713915C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Thr425Ser	rs766356840	missense variant	-	NC_000019.10:g.51713911G>C	ExAC,gnomAD
HAS1	M0R2V0	p.Thr425Ala	rs1268720009	missense variant	-	NC_000019.10:g.51713912T>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Val426Met	rs1300645780	missense variant	-	NC_000019.10:g.51713909C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg428His	rs1416323528	missense variant	-	NC_000019.10:g.51713902C>T	gnomAD
HAS1	M0R2V0	p.Arg428Cys	rs1176908583	missense variant	-	NC_000019.10:g.51713903G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Arg428Gly	rs1176908583	missense variant	-	NC_000019.10:g.51713903G>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Phe430Leu	rs765181371	missense variant	-	NC_000019.10:g.51713895G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr431His	rs1466785335	missense variant	-	NC_000019.10:g.51713894A>G	TOPMed
HAS1	M0R2V0	p.Ala432Val	rs777058982	missense variant	-	NC_000019.10:g.51713890G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Gly433Ala	rs1253250103	missense variant	-	NC_000019.10:g.51713887C>G	TOPMed
HAS1	M0R2V0	p.Arg434Cys	rs747388837	missense variant	-	NC_000019.10:g.51713885G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Pro435Arg	rs746309017	missense variant	-	NC_000019.10:g.51713881G>C	ExAC,gnomAD
HAS1	M0R2V0	p.Pro435Ser	rs199522998	missense variant	-	NC_000019.10:g.51713882G>A	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp436Ter	rs779448854	stop gained	-	NC_000019.10:g.51713878C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ala437Thr	rs1319091456	missense variant	-	NC_000019.10:g.51713876C>T	gnomAD
HAS1	M0R2V0	p.Ala437Val	rs34682338	missense variant	-	NC_000019.10:g.51713875G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu439Pro	rs1020102953	missense variant	-	NC_000019.10:g.51713869A>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Trp440Ser	rs775898159	missense variant	-	NC_000019.10:g.51713866C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp440Cys	rs1368579986	missense variant	-	NC_000019.10:g.51713865C>G	TOPMed
HAS1	M0R2V0	p.Trp440Ter	rs775898159	stop gained	-	NC_000019.10:g.51713866C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val441Met	rs780885474	missense variant	-	NC_000019.10:g.51713864C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val441Ala	rs199734719	missense variant	-	NC_000019.10:g.51713863A>G	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Cys444Trp	rs540354288	missense variant	-	NC_000019.10:g.51713853G>C	1000Genomes,TOPMed
HAS1	M0R2V0	p.Cys444Tyr	rs370273566	missense variant	-	NC_000019.10:g.51713854C>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Cys444Phe	rs370273566	missense variant	-	NC_000019.10:g.51713854C>A	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val445Ala	rs1172575155	missense variant	-	NC_000019.10:g.51713851A>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Gln446Ter	rs1474147973	stop gained	-	NC_000019.10:g.51713849G>A	gnomAD
HAS1	M0R2V0	p.Gln446His	rs750377912	missense variant	-	NC_000019.10:g.51713847C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly447Ala	rs945513495	missense variant	-	NC_000019.10:g.51713845C>G	gnomAD
HAS1	M0R2V0	p.Gly447Asp	rs945513495	missense variant	-	NC_000019.10:g.51713845C>T	gnomAD
HAS1	M0R2V0	p.Val448Met	rs1230790474	missense variant	-	NC_000019.10:g.51713843C>T	gnomAD
HAS1	M0R2V0	p.Ala449Val	rs1457948563	missense variant	-	NC_000019.10:g.51713839G>A	gnomAD
HAS1	M0R2V0	p.Ala449Thr	rs762041267	missense variant	-	NC_000019.10:g.51713840C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Leu450Val	rs776792545	missense variant	-	NC_000019.10:g.51713837G>C	ExAC
HAS1	M0R2V0	p.Leu450Pro	rs1260328744	missense variant	-	NC_000019.10:g.51713836A>G	gnomAD
HAS1	M0R2V0	p.Ala451Ser	rs760936739	missense variant	-	NC_000019.10:g.51713834C>A	ExAC
HAS1	M0R2V0	p.Ala453Val	rs777620987	missense variant	-	NC_000019.10:g.51713827G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Ala454Thr	rs774791350	missense variant	-	NC_000019.10:g.51713825C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ala454Val	rs771460252	missense variant	-	NC_000019.10:g.51713824G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Phe455Ser	rs747673611	missense variant	-	NC_000019.10:g.51713821A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Ala456Glu	rs780617707	missense variant	-	NC_000019.10:g.51713818G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala456Thr	rs1447720912	missense variant	-	NC_000019.10:g.51713819C>T	gnomAD
HAS1	M0R2V0	p.Ala457Ser	rs746617127	missense variant	-	NC_000019.10:g.51713816C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala457Val	rs1349210120	missense variant	-	NC_000019.10:g.51713815G>A	gnomAD
HAS1	M0R2V0	p.Trp458Leu	rs1350494332	missense variant	-	NC_000019.10:g.51713812C>A	TOPMed
HAS1	M0R2V0	p.Trp458Ter	rs1343493579	stop gained	-	NC_000019.10:g.51713811C>T	gnomAD
HAS1	M0R2V0	p.Arg460Gln	rs201116150	missense variant	-	NC_000019.10:g.51713806C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg460Trp	rs150680444	missense variant	-	NC_000019.10:g.51713807G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg460Pro	rs201116150	missense variant	-	NC_000019.10:g.51713806C>G	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly461Ser	rs778728927	missense variant	-	NC_000019.10:g.51713804C>T	ExAC,TOPMed
HAS1	M0R2V0	p.Gly461Asp	rs757192303	missense variant	-	NC_000019.10:g.51713803C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Cys462Trp	rs1371308173	missense variant	-	NC_000019.10:g.51713799G>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Leu463Arg	rs535370805	missense variant	-	NC_000019.10:g.51713797A>C	1000Genomes
HAS1	M0R2V0	p.Arg464His	rs1354147152	missense variant	-	NC_000019.10:g.51713794C>T	TOPMed
HAS1	M0R2V0	p.Arg464Cys	rs145577853	missense variant	-	NC_000019.10:g.51713795G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Met465Leu	rs200754704	missense variant	-	NC_000019.10:g.51713792T>G	1000Genomes,ExAC,TOPMed
HAS1	M0R2V0	p.Val466Gly	rs752898307	missense variant	-	NC_000019.10:g.51713788A>C	ExAC,gnomAD
HAS1	M0R2V0	p.Ser469Ala	rs767771608	missense variant	-	NC_000019.10:g.51713780A>C	ExAC
HAS1	M0R2V0	p.Ser469Leu	rs1224375461	missense variant	-	NC_000019.10:g.51713779G>A	gnomAD
HAS1	M0R2V0	p.Leu470Pro	rs538087580	missense variant	-	NC_000019.10:g.51713776A>G	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Tyr471Cys	rs774723725	missense variant	-	NC_000019.10:g.51713773T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Ala472Val	rs771434906	missense variant	-	NC_000019.10:g.51713770G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Pro473Thr	rs1384837032	missense variant	-	NC_000019.10:g.51713768G>T	gnomAD
HAS1	M0R2V0	p.Pro473Ser	rs1384837032	missense variant	-	NC_000019.10:g.51713768G>A	gnomAD
HAS1	M0R2V0	p.Pro473Leu	rs763413589	missense variant	-	NC_000019.10:g.51713767G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Leu474His	rs780839558	missense variant	-	NC_000019.10:g.51713764A>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr475Cys	rs1358547976	missense variant	-	NC_000019.10:g.51713761T>C	gnomAD
HAS1	M0R2V0	p.Met476Ile	rs1419838690	missense variant	-	NC_000019.10:g.51713757C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Met476Leu	rs570540275	missense variant	-	NC_000019.10:g.51713759T>G	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Cys477Ser	rs746492277	missense variant	-	NC_000019.10:g.51713756A>T	ExAC,gnomAD
HAS1	M0R2V0	p.Gly478Asp	rs1196353914	missense variant	-	NC_000019.10:g.51713752C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Leu479Phe	rs1432267438	missense variant	-	NC_000019.10:g.51713750G>A	gnomAD
HAS1	M0R2V0	p.Pro481Ser	rs771697406	missense variant	-	NC_000019.10:g.51713744G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Pro481Thr	rs771697406	missense variant	-	NC_000019.10:g.51713744G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Pro481Ala	rs771697406	missense variant	-	NC_000019.10:g.51713744G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Pro481Leu	rs552280333	missense variant	-	NC_000019.10:g.51713743G>A	1000Genomes
HAS1	M0R2V0	p.Ala482Thr	rs745653161	missense variant	-	NC_000019.10:g.51713741C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala482Asp	rs778727403	missense variant	-	NC_000019.10:g.51713740G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Phe484Leu	rs753873532	missense variant	-	NC_000019.10:g.51713733G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala486Thr	rs756325884	missense variant	-	NC_000019.10:g.51713729C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ala486Glu	rs767651246	missense variant	-	NC_000019.10:g.51713728G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Ala486Val	rs767651246	missense variant	-	NC_000019.10:g.51713728G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Leu487Pro	rs759740307	missense variant	-	NC_000019.10:g.51713725A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Met490Thr	rs751903070	missense variant	-	NC_000019.10:g.51713716A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Gln492Arg	rs140048746	missense variant	-	NC_000019.10:g.51713710T>C	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ser493Asn	rs1361849988	missense variant	-	NC_000019.10:g.51713707C>T	gnomAD
HAS1	M0R2V0	p.Gly494Val	rs1170319947	missense variant	-	NC_000019.10:g.51713704C>A	gnomAD
HAS1	M0R2V0	p.Trp495Ter	rs763283798	stop gained	-	NC_000019.10:g.51713700C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly496Ser	rs1178675077	missense variant	-	NC_000019.10:g.51713699C>T	gnomAD
HAS1	M0R2V0	p.Thr497Ile	rs1263065139	missense variant	-	NC_000019.10:g.51713695G>A	gnomAD
HAS1	M0R2V0	p.Ser498Thr	rs1194985866	missense variant	-	NC_000019.10:g.51713693A>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Ser498Leu	rs367672882	missense variant	-	NC_000019.10:g.51713692G>A	ESP,ExAC,gnomAD
HAS1	M0R2V0	p.Gly499Ala	rs760115520	missense variant	-	NC_000019.10:g.51713689C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly499Arg	rs1318388816	missense variant	-	NC_000019.10:g.51713690C>G	gnomAD
HAS1	M0R2V0	p.Arg500Pro	rs1345968195	missense variant	-	NC_000019.10:g.51713686C>G	gnomAD
HAS1	M0R2V0	p.Arg500Leu	rs1345968195	missense variant	-	NC_000019.10:g.51713686C>A	gnomAD
HAS1	M0R2V0	p.Arg500Trp	rs771653891	missense variant	-	NC_000019.10:g.51713687G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg501Trp	rs113145387	missense variant	-	NC_000019.10:g.51713684G>A	gnomAD
HAS1	M0R2V0	p.Lys502Met	rs1315878380	missense variant	-	NC_000019.10:g.51713680T>A	gnomAD
HAS1	M0R2V0	p.Leu503Gln	rs899233860	missense variant	-	NC_000019.10:g.51713677A>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala504Pro	rs745475332	missense variant	-	NC_000019.10:g.51713675C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala505Ser	rs1342472095	missense variant	-	NC_000019.10:g.51713672C>A	TOPMed
HAS1	M0R2V0	p.Ala505Val	rs1230097350	missense variant	-	NC_000019.10:g.51713671G>A	TOPMed
HAS1	M0R2V0	p.Asn506Lys	rs770886288	missense variant	-	NC_000019.10:g.51713667G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Asn506Lys	rs770886288	missense variant	-	NC_000019.10:g.51713667G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Asn506Thr	rs1304272146	missense variant	-	NC_000019.10:g.51713668T>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Asn506Tyr	rs1402446923	missense variant	-	NC_000019.10:g.51713669T>A	gnomAD
HAS1	M0R2V0	p.Val508Leu	rs566488407	missense variant	-	NC_000019.10:g.51713663C>G	1000Genomes,gnomAD
HAS1	M0R2V0	p.Val508Ile	rs566488407	missense variant	-	NC_000019.10:g.51713663C>T	1000Genomes,gnomAD
HAS1	M0R2V0	p.Pro509Leu	rs1032962089	missense variant	-	NC_000019.10:g.51713659G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Leu510Pro	rs1171791131	missense variant	-	NC_000019.10:g.51713656A>G	gnomAD
HAS1	M0R2V0	p.Leu510Val	rs749088191	missense variant	-	NC_000019.10:g.51713657G>C	ExAC,gnomAD
HAS1	M0R2V0	p.Pro512Thr	rs1443123248	missense variant	-	NC_000019.10:g.51713651G>T	gnomAD
HAS1	M0R2V0	p.Leu513Val	rs1196938803	missense variant	-	NC_000019.10:g.51713648G>C	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala514Glu	rs777913003	missense variant	-	NC_000019.10:g.51713644G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala514Val	rs777913003	missense variant	-	NC_000019.10:g.51713644G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu515Pro	rs748183341	missense variant	-	NC_000019.10:g.51713641A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Leu515His	rs748183341	missense variant	-	NC_000019.10:g.51713641A>T	ExAC,gnomAD
HAS1	M0R2V0	p.Leu515Phe	rs756061218	missense variant	-	NC_000019.10:g.51713642G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp516Ter	rs906541816	stop gained	-	NC_000019.10:g.51713637C>T	gnomAD
HAS1	M0R2V0	p.Trp516Ter	rs548164990	stop gained	-	NC_000019.10:g.51713638C>T	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Ala517Val	rs755181313	missense variant	-	NC_000019.10:g.51713635G>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala517Glu	rs755181313	missense variant	-	NC_000019.10:g.51713635G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu519Arg	rs766556467	missense variant	-	NC_000019.10:g.51713629A>C	ExAC,gnomAD
HAS1	M0R2V0	p.Leu519Pro	rs766556467	missense variant	-	NC_000019.10:g.51713629A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Leu521Arg	rs1332449531	missense variant	-	NC_000019.10:g.51713623A>C	gnomAD
HAS1	M0R2V0	p.Leu521Pro	rs1332449531	missense variant	-	NC_000019.10:g.51713623A>G	gnomAD
HAS1	M0R2V0	p.Gly522Trp	rs199658827	missense variant	-	NC_000019.10:g.51713621C>A	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly522Arg	rs199658827	missense variant	-	NC_000019.10:g.51713621C>G	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly523Asp	rs765735334	missense variant	-	NC_000019.10:g.51713617C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly523Ala	rs765735334	missense variant	-	NC_000019.10:g.51713617C>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly523Arg	rs1163227981	missense variant	-	NC_000019.10:g.51713618C>G	gnomAD
HAS1	M0R2V0	p.Val528Ile	rs762341890	missense variant	-	NC_000019.10:g.51713603C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Val528Glu	rs774883724	missense variant	-	NC_000019.10:g.51713602A>T	ExAC
HAS1	M0R2V0	p.His530Gln	rs1053866591	missense variant	-	NC_000019.10:g.51713595G>C	TOPMed,gnomAD
HAS1	M0R2V0	p.His530Arg	rs1300892406	missense variant	-	NC_000019.10:g.51713596T>C	TOPMed
HAS1	M0R2V0	p.Glu531Asp	rs758933783	missense variant	-	NC_000019.10:g.51713592C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Glu531Lys	rs767100794	missense variant	-	NC_000019.10:g.51713594C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala532Thr	rs563221644	missense variant	-	NC_000019.10:g.51713591C>T	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Arg533Gly	rs770690454	missense variant	-	NC_000019.10:g.51713588T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Ala534Val	rs375036393	missense variant	-	NC_000019.10:g.51713584G>A	ESP,ExAC,gnomAD
HAS1	M0R2V0	p.Ala534Asp	rs375036393	missense variant	-	NC_000019.10:g.51713584G>T	ESP,ExAC,gnomAD
HAS1	M0R2V0	p.Asp535Asn	rs920987958	missense variant	-	NC_000019.10:g.51713582C>T	TOPMed
HAS1	M0R2V0	p.Trp536Ser	rs1316453289	missense variant	-	NC_000019.10:g.51713578C>G	gnomAD
HAS1	M0R2V0	p.Trp536Ter	rs1036821686	stop gained	-	NC_000019.10:g.51713577C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Ser537Ile	rs943669565	missense variant	-	NC_000019.10:g.51713575C>A	gnomAD
HAS1	M0R2V0	p.Ser537Asn	rs943669565	missense variant	-	NC_000019.10:g.51713575C>T	gnomAD
HAS1	M0R2V0	p.Ser537Arg	rs769655356	missense variant	-	NC_000019.10:g.51713574G>T	ExAC,gnomAD
HAS1	M0R2V0	p.Pro539Arg	rs940904550	missense variant	-	NC_000019.10:g.51713569G>C	TOPMed
HAS1	M0R2V0	p.Arg541Gly	rs780970564	missense variant	-	NC_000019.10:g.51713564G>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg541His	rs887941371	missense variant	-	NC_000019.10:g.51713563C>T	TOPMed
HAS1	M0R2V0	p.Arg541Ser	rs780970564	missense variant	-	NC_000019.10:g.51713564G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Glu544Ter	rs201280791	stop gained	-	NC_000019.10:g.51713555C>A	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Glu544Val	rs780313591	missense variant	-	NC_000019.10:g.51713554T>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Glu544Lys	rs201280791	missense variant	-	NC_000019.10:g.51713555C>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala545Asp	rs1419227107	missense variant	-	NC_000019.10:g.51713551G>T	gnomAD
HAS1	M0R2V0	p.His547Pro	rs750815065	missense variant	-	NC_000019.10:g.51713545T>G	ExAC,gnomAD
HAS1	M0R2V0	p.Leu548Phe	rs1477173853	missense variant	-	NC_000019.10:g.51713541C>G	gnomAD
HAS1	M0R2V0	p.Ala549Pro	rs1244703083	missense variant	-	NC_000019.10:g.51713540C>G	gnomAD
HAS1	M0R2V0	p.Ala550Thr	rs1026932420	missense variant	-	NC_000019.10:g.51713537C>T	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala550Ser	rs1026932420	missense variant	-	NC_000019.10:g.51713537C>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Ala550Val	rs975764736	missense variant	-	NC_000019.10:g.51713536G>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Gly551Arg	rs551285865	missense variant	-	NC_000019.10:g.51713534C>G	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Gly551Trp	rs551285865	missense variant	-	NC_000019.10:g.51713534C>A	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Gly551Arg	rs551285865	missense variant	-	NC_000019.10:g.51713534C>T	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Ala552Thr	rs754405233	missense variant	-	NC_000019.10:g.51713531C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala552Ser	rs754405233	missense variant	-	NC_000019.10:g.51713531C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Ala552Asp	rs377755127	missense variant	-	NC_000019.10:g.51713530G>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly553Ser	rs867468591	missense variant	-	NC_000019.10:g.51713528C>T	gnomAD
HAS1	M0R2V0	p.Gly553Arg	rs867468591	missense variant	-	NC_000019.10:g.51713528C>G	gnomAD
HAS1	M0R2V0	p.Ala554Asp	rs375056321	missense variant	-	NC_000019.10:g.51713524G>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val556Ala	rs1333380549	missense variant	-	NC_000019.10:g.51713518A>G	gnomAD
HAS1	M0R2V0	p.Tyr558Cys	rs769683032	missense variant	-	NC_000019.10:g.51713512T>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Tyr558Phe	rs769683032	missense variant	-	NC_000019.10:g.51713512T>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp559Ter	rs761482619	stop gained	-	NC_000019.10:g.51713508C>T	ExAC,gnomAD
HAS1	M0R2V0	p.Val560Leu	rs1424802035	missense variant	-	NC_000019.10:g.51713507C>G	gnomAD
HAS1	M0R2V0	p.Ala561Val	rs1478264163	missense variant	-	NC_000019.10:g.51713503G>A	gnomAD
HAS1	M0R2V0	p.Met562Thr	rs768467241	missense variant	-	NC_000019.10:g.51713500A>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Met562Val	rs1271297123	missense variant	-	NC_000019.10:g.51713501T>C	TOPMed
HAS1	M0R2V0	p.Leu563Phe	rs1487935646	missense variant	-	NC_000019.10:g.51713496C>G	TOPMed,gnomAD
HAS1	M0R2V0	p.Leu563Ser	rs1191369117	missense variant	-	NC_000019.10:g.51713497A>G	gnomAD
HAS1	M0R2V0	p.Thr564Met	rs1217318210	missense variant	-	NC_000019.10:g.51713494G>A	gnomAD
HAS1	M0R2V0	p.Thr564Ser	rs1263206923	missense variant	-	NC_000019.10:g.51713495T>A	TOPMed,gnomAD
HAS1	M0R2V0	p.Leu565Pro	rs772303503	missense variant	-	NC_000019.10:g.51713491A>G	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Leu565Met	rs780065781	missense variant	-	NC_000019.10:g.51713492G>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Trp567Ter	rs200444967	stop gained	-	NC_000019.10:g.51713485C>T	ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly569Ser	rs532774557	missense variant	-	NC_000019.10:g.51713480C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val570Met	rs754136062	missense variant	-	NC_000019.10:g.51713477C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg571Gln	rs756514995	missense variant	-	NC_000019.10:g.51713473C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg571Trp	rs778353426	missense variant	-	NC_000019.10:g.51713474G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Arg572Lys	rs751148168	missense variant	-	NC_000019.10:g.51713470C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg575Gly	rs750141734	missense variant	-	NC_000019.10:g.51713462G>C	ExAC,gnomAD
HAS1	M0R2V0	p.Arg575Gln	rs764792472	missense variant	-	NC_000019.10:g.51713461C>T	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg575Leu	rs764792472	missense variant	-	NC_000019.10:g.51713461C>A	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg577Pro	rs1187740163	missense variant	-	NC_000019.10:g.51713455C>G	gnomAD
HAS1	M0R2V0	p.Arg577Gln	rs1187740163	missense variant	-	NC_000019.10:g.51713455C>T	gnomAD
HAS1	M0R2V0	p.Thr578Ile	rs776233327	missense variant	-	NC_000019.10:g.51713452G>A	ExAC,gnomAD
HAS1	M0R2V0	p.Thr578Ala	rs761727364	missense variant	-	NC_000019.10:g.51713453T>C	ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly579Arg	rs528538024	missense variant	-	NC_000019.10:g.51713450C>G	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Gly579Val	rs560949858	missense variant	-	NC_000019.10:g.51713449C>A	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Gly579Arg	rs528538024	missense variant	-	NC_000019.10:g.51713450C>T	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Gly579Ala	rs560949858	missense variant	-	NC_000019.10:g.51713449C>G	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Gly580Val	rs575227050	missense variant	-	NC_000019.10:g.51713446C>A	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly580Asp	rs575227050	missense variant	-	NC_000019.10:g.51713446C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Gly580Arg	rs936793816	missense variant	-	NC_000019.10:g.51713447C>G	TOPMed
HAS1	M0R2V0	p.Tyr581Cys	rs770998085	missense variant	-	NC_000019.10:g.51713443T>C	ExAC,gnomAD
HAS1	M0R2V0	p.Arg582Ser	rs372838640	missense variant	-	NC_000019.10:g.51713441G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg582Gly	rs372838640	missense variant	-	NC_000019.10:g.51713441G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Arg582Cys	rs372838640	missense variant	-	NC_000019.10:g.51713441G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAS1	M0R2V0	p.Val583Asp	rs781757286	missense variant	-	NC_000019.10:g.51713437A>T	ExAC,gnomAD
HAS1	M0R2V0	p.Val583Ala	rs781757286	missense variant	-	NC_000019.10:g.51713437A>G	ExAC,gnomAD
HAS1	M0R2V0	p.Val583Ile	rs544159095	missense variant	-	NC_000019.10:g.51713438C>T	1000Genomes,ExAC,gnomAD
HAS1	M0R2V0	p.Val583Phe	rs544159095	missense variant	-	NC_000019.10:g.51713438C>A	1000Genomes,ExAC,gnomAD
KIF2A	O00139	p.Thr3Met	rs367659703	missense variant	-	NC_000005.10:g.62306480C>T	ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Thr3Lys	rs367659703	missense variant	-	NC_000005.10:g.62306480C>A	ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Thr3Ala	rs765801970	missense variant	-	NC_000005.10:g.62306479A>G	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Asn5Asp	rs1486350001	missense variant	-	NC_000005.10:g.62306485A>G	gnomAD
KIF2A	O00139	p.Asn5Lys	rs1196272138	missense variant	-	NC_000005.10:g.62306487C>G	gnomAD
KIF2A	O00139	p.Asn5Ser	rs917841116	missense variant	-	NC_000005.10:g.62306486A>G	TOPMed,gnomAD
KIF2A	O00139	p.Gly7Arg	rs552269440	missense variant	-	NC_000005.10:g.62306491G>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Gly7Ser	rs552269440	missense variant	-	NC_000005.10:g.62306491G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Gly7Asp	rs1208355269	missense variant	-	NC_000005.10:g.62306492G>A	TOPMed
KIF2A	O00139	p.Lys8Glu	rs972154930	missense variant	-	NC_000005.10:g.62306494A>G	TOPMed,gnomAD
KIF2A	O00139	p.Lys8Gln	rs972154930	missense variant	-	NC_000005.10:g.62306494A>C	TOPMed,gnomAD
KIF2A	O00139	p.Lys8Asn	rs1166313686	missense variant	-	NC_000005.10:g.62306496G>T	gnomAD
KIF2A	O00139	p.Ile9Val	rs1235554378	missense variant	-	NC_000005.10:g.62306497A>G	TOPMed
KIF2A	O00139	p.Ile9Leu	rs1235554378	missense variant	-	NC_000005.10:g.62306497A>C	TOPMed
KIF2A	O00139	p.Gln10His	rs571541885	missense variant	-	NC_000005.10:g.62306502G>C	1000Genomes,ExAC,gnomAD
KIF2A	O00139	p.Gln10Glu	rs1415260207	missense variant	-	NC_000005.10:g.62306500C>G	TOPMed,gnomAD
KIF2A	O00139	p.Ile11Met	rs1410948931	missense variant	-	NC_000005.10:g.62306505C>G	TOPMed
KIF2A	O00139	p.Gly12Glu	rs752517127	missense variant	-	NC_000005.10:g.62306507G>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Glu16Lys	rs1403034431	missense variant	-	NC_000005.10:g.62306518G>A	TOPMed
KIF2A	O00139	p.Asp21Asn	rs1310811982	missense variant	-	NC_000005.10:g.62306533G>A	gnomAD
KIF2A	O00139	p.Ile24Met	COSM1486887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62347137A>G	NCI-TCGA Cosmic
KIF2A	O00139	p.Val29Ile	rs1276930329	missense variant	-	NC_000005.10:g.62347150G>A	TOPMed,gnomAD
KIF2A	O00139	p.Val29Ala	COSM3855795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62347151T>C	NCI-TCGA Cosmic
KIF2A	O00139	p.Thr30Ile	rs765160141	missense variant	-	NC_000005.10:g.62347154C>T	ExAC
KIF2A	O00139	p.Ser31Phe	COSM3617327	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62347157C>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Asp35Asn	rs150192070	missense variant	-	NC_000005.10:g.62347168G>A	ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Asn36Ser	rs925638530	missense variant	-	NC_000005.10:g.62347172A>G	TOPMed,gnomAD
KIF2A	O00139	p.Glu37Gly	rs546664729	missense variant	-	NC_000005.10:g.62347175A>G	1000Genomes,ExAC,gnomAD
KIF2A	O00139	p.Ser38Asn	rs751850670	missense variant	-	NC_000005.10:g.62347178G>A	ExAC,gnomAD
KIF2A	O00139	p.Val39Ile	rs922141597	missense variant	-	NC_000005.10:g.62347180G>A	TOPMed,gnomAD
KIF2A	O00139	p.Asp55Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62348052A>G	NCI-TCGA
KIF2A	O00139	p.Leu56Met	rs751337612	missense variant	-	NC_000005.10:g.62348054C>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Ser58Asn	rs757038674	missense variant	-	NC_000005.10:g.62348061G>A	ExAC,gnomAD
KIF2A	O00139	p.Ile59Met	COSM4836339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348065C>G	NCI-TCGA Cosmic
KIF2A	O00139	p.Ser61Leu	rs767638932	missense variant	-	NC_000005.10:g.62348070C>T	ExAC,gnomAD
KIF2A	O00139	p.Pro64Ser	rs138676317	missense variant	-	NC_000005.10:g.62348078C>T	ESP
KIF2A	O00139	p.Asp65Glu	rs73102041	missense variant	-	NC_000005.10:g.62348083C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Asp65Glu	RCV000437514	missense variant	-	NC_000005.10:g.62348083C>A	ClinVar
KIF2A	O00139	p.Leu66Phe	rs756321886	missense variant	-	NC_000005.10:g.62348084C>T	ExAC,gnomAD
KIF2A	O00139	p.Leu66Ile	COSM482940	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348084C>A	NCI-TCGA Cosmic
KIF2A	O00139	p.Pro68Ala	rs780248688	missense variant	-	NC_000005.10:g.62348090C>G	ExAC,gnomAD
KIF2A	O00139	p.Asp69Val	rs749857734	missense variant	-	NC_000005.10:g.62348094A>T	ExAC,gnomAD
KIF2A	O00139	p.Glu70Lys	COSM449949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348096G>A	NCI-TCGA Cosmic
KIF2A	O00139	p.Glu71Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.62348099G>T	NCI-TCGA
KIF2A	O00139	p.Ile72Ser	rs1293218793	missense variant	-	NC_000005.10:g.62348103T>G	TOPMed,gnomAD
KIF2A	O00139	p.Ile72Thr	rs1293218793	missense variant	-	NC_000005.10:g.62348103T>C	TOPMed,gnomAD
KIF2A	O00139	p.Pro74Leu	rs1258484187	missense variant	-	NC_000005.10:g.62348109C>T	gnomAD
KIF2A	O00139	p.Pro74Ala	rs779434615	missense variant	-	NC_000005.10:g.62348108C>G	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Pro76Thr	RCV000440374	missense variant	-	NC_000005.10:g.62348114C>A	ClinVar
KIF2A	O00139	p.Pro76Thr	rs748463159	missense variant	-	NC_000005.10:g.62348114C>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Pro80Gln	rs571500254	missense variant	-	NC_000005.10:g.62348127C>A	1000Genomes,ExAC,gnomAD
KIF2A	O00139	p.Pro81Ser	rs1484573099	missense variant	-	NC_000005.10:g.62348129C>T	TOPMed,gnomAD
KIF2A	O00139	p.Ala83Ser	rs3194481	missense variant	-	NC_000005.10:g.62348135G>T	ESP,ExAC,gnomAD
KIF2A	O00139	p.Ala83Thr	rs3194481	missense variant	-	NC_000005.10:g.62348135G>A	ESP,ExAC,gnomAD
KIF2A	O00139	p.Ser85Ala	rs769337181	missense variant	-	NC_000005.10:g.62348141T>G	ExAC,gnomAD
KIF2A	O00139	p.Ala86Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62348144G>A	NCI-TCGA
KIF2A	O00139	p.Val88Ala	rs774962082	missense variant	-	NC_000005.10:g.62348151T>C	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Val88Ile	rs1425539658	missense variant	-	NC_000005.10:g.62348150G>A	gnomAD
KIF2A	O00139	p.Lys90Thr	COSM3855797	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348157A>C	NCI-TCGA Cosmic
KIF2A	O00139	p.Lys90Asn	COSM1069237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62348158A>C	NCI-TCGA Cosmic
KIF2A	O00139	p.Val92Ile	rs774278609	missense variant	-	NC_000005.10:g.62348162G>A	ExAC,gnomAD
KIF2A	O00139	p.Arg95Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.62350069C>T	NCI-TCGA
KIF2A	O00139	p.Arg95Gln	rs1296969890	missense variant	-	NC_000005.10:g.62350070G>A	gnomAD
KIF2A	O00139	p.Arg96Trp	rs1398830350	missense variant	-	NC_000005.10:g.62350072C>T	TOPMed,gnomAD
KIF2A	O00139	p.Arg96Gln	rs1007319532	missense variant	-	NC_000005.10:g.62350073G>A	TOPMed,gnomAD
KIF2A	O00139	p.Ser100Cys	rs185454811	missense variant	-	NC_000005.10:g.62350085C>G	1000Genomes,gnomAD
KIF2A	O00139	p.Pro105Thr	rs1233155974	missense variant	-	NC_000005.10:g.62350099C>A	gnomAD
KIF2A	O00139	p.Ser107Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62350106C>T	NCI-TCGA
KIF2A	O00139	p.Arg108Lys	rs1204558128	missense variant	-	NC_000005.10:g.62350109G>A	TOPMed
KIF2A	O00139	p.Val112Met	rs774215921	missense variant	-	NC_000005.10:g.62350120G>A	ExAC,gnomAD
KIF2A	O00139	p.Val113Phe	rs1274890324	missense variant	-	NC_000005.10:g.62352590G>T	TOPMed
KIF2A	O00139	p.Gly114Ala	rs1229237874	missense variant	-	NC_000005.10:g.62352594G>C	TOPMed
KIF2A	O00139	p.Arg117Cys	rs1220425782	missense variant	-	NC_000005.10:g.62352602C>T	gnomAD
KIF2A	O00139	p.Arg117His	rs1260020552	missense variant	-	NC_000005.10:g.62352603G>A	gnomAD
KIF2A	O00139	p.Arg119Gln	rs372617073	missense variant	-	NC_000005.10:g.62352609G>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Arg119Trp	rs1467202590	missense variant	-	NC_000005.10:g.62352608C>T	TOPMed,gnomAD
KIF2A	O00139	p.Ser121Arg	rs1247503072	missense variant	-	NC_000005.10:g.62352614A>C	TOPMed,gnomAD
KIF2A	O00139	p.Ser121Gly	rs1247503072	missense variant	-	NC_000005.10:g.62352614A>G	TOPMed,gnomAD
KIF2A	O00139	p.Ser121Ile	COSM738430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62352615G>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Gln122Arg	rs779695634	missense variant	-	NC_000005.10:g.62352618A>G	ExAC
KIF2A	O00139	p.Gln126Pro	rs768119919	missense variant	-	NC_000005.10:g.62352630A>C	ExAC,gnomAD
KIF2A	O00139	p.Ser128Pro	rs138408434	missense variant	-	NC_000005.10:g.62352635T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Ser128Pro	RCV000627065	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62352635T>C	ClinVar
KIF2A	O00139	p.Ala130Thr	rs772165829	missense variant	-	NC_000005.10:g.62352641G>A	ExAC,gnomAD
KIF2A	O00139	p.Gln132His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62352649G>T	NCI-TCGA
KIF2A	O00139	p.Gly134Val	rs773217410	missense variant	-	NC_000005.10:g.62352654G>T	ExAC,gnomAD
KIF2A	O00139	p.Ser135Asn	rs1428261413	missense variant	-	NC_000005.10:g.62352657G>A	gnomAD
KIF2A	O00139	p.Asp138Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62352665G>T	NCI-TCGA
KIF2A	O00139	p.Pro141Leu	rs760558762	missense variant	-	NC_000005.10:g.62352675C>T	ExAC,gnomAD
KIF2A	O00139	p.Ala144Thr	rs1340919447	missense variant	-	NC_000005.10:g.62352683G>A	gnomAD
KIF2A	O00139	p.Lys146Glu	rs770833204	missense variant	-	NC_000005.10:g.62352689A>G	ExAC,gnomAD
KIF2A	O00139	p.Lys147ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.62352688A>-	NCI-TCGA
KIF2A	O00139	p.Glu148GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.62352687_62352688insA	NCI-TCGA
KIF2A	O00139	p.Phe149Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62352699T>G	NCI-TCGA
KIF2A	O00139	p.Pro151Thr	rs1456629507	missense variant	-	NC_000005.10:g.62352704C>A	TOPMed
KIF2A	O00139	p.Pro151Ser	COSM3617329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62352704C>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Pro152Thr	rs759771074	missense variant	-	NC_000005.10:g.62352707C>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Pro152Ala	rs759771074	missense variant	-	NC_000005.10:g.62352707C>G	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Pro152Leu	COSM3617331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62352708C>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Ser153Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62352710T>A	NCI-TCGA
KIF2A	O00139	p.Arg154Cys	rs747697385	missense variant	-	NC_000005.10:g.62353277C>T	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Arg154His	rs1219221959	missense variant	-	NC_000005.10:g.62353278G>A	gnomAD
KIF2A	O00139	p.Ser157Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62353287C>A	NCI-TCGA
KIF2A	O00139	p.Cys159Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62353292T>G	NCI-TCGA
KIF2A	O00139	p.Cys159Tyr	rs1276997199	missense variant	-	NC_000005.10:g.62353293G>A	TOPMed,gnomAD
KIF2A	O00139	p.Glu162Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.62353301G>T	NCI-TCGA
KIF2A	O00139	p.Gln167His	COSM1069239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62353318A>C	NCI-TCGA Cosmic
KIF2A	O00139	p.Lys169AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.62353320A>-	NCI-TCGA
KIF2A	O00139	p.Glu171Gln	rs757923895	missense variant	-	NC_000005.10:g.62353328G>C	ExAC,gnomAD
KIF2A	O00139	p.Lys172Glu	rs1238643590	missense variant	-	NC_000005.10:g.62353331A>G	gnomAD
KIF2A	O00139	p.Arg174Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62353338G>A	NCI-TCGA
KIF2A	O00139	p.Ala185Ser	rs1380512070	missense variant	-	NC_000005.10:g.62353370G>T	gnomAD
KIF2A	O00139	p.Ala185Gly	rs1441214697	missense variant	-	NC_000005.10:g.62353371C>G	gnomAD
KIF2A	O00139	p.Val188Ile	rs777382535	missense variant	-	NC_000005.10:g.62355162G>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Val188Ile	RCV000520527	missense variant	-	NC_000005.10:g.62355162G>A	ClinVar
KIF2A	O00139	p.Asn192His	rs746988250	missense variant	-	NC_000005.10:g.62355174A>C	ExAC,gnomAD
KIF2A	O00139	p.Asn194Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62355181A>T	NCI-TCGA
KIF2A	O00139	p.Asn194Thr	rs1330803835	missense variant	-	NC_000005.10:g.62355181A>C	gnomAD
KIF2A	O00139	p.Tyr195His	rs1327237342	missense variant	-	NC_000005.10:g.62355183T>C	TOPMed
KIF2A	O00139	p.Glu196Lys	COSM6171670	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62355186G>A	NCI-TCGA Cosmic
KIF2A	O00139	p.Asp203Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62355207G>T	NCI-TCGA
KIF2A	O00139	p.Asp209Asn	rs769421818	missense variant	-	NC_000005.10:g.62355225G>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Thr215Ala	rs1319399388	missense variant	-	NC_000005.10:g.62355243A>G	gnomAD
KIF2A	O00139	p.Ala216Val	rs1207626479	missense variant	-	NC_000005.10:g.62355247C>T	gnomAD
KIF2A	O00139	p.Pro218Leu	rs143966710	missense variant	-	NC_000005.10:g.62355253C>T	ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.His222Tyr	rs1356565525	missense variant	-	NC_000005.10:g.62357700C>T	gnomAD
KIF2A	O00139	p.Arg223Ser	rs781206641	missense variant	-	NC_000005.10:g.62357705G>T	ExAC,gnomAD
KIF2A	O00139	p.Ile224Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62357708A>G	NCI-TCGA
KIF2A	O00139	p.Cys225Tyr	COSM1069241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62357710G>A	NCI-TCGA Cosmic
KIF2A	O00139	p.Cys227Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62357716G>T	NCI-TCGA
KIF2A	O00139	p.Arg229Ter	COSM5096880	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.62357708_62357709insTG	NCI-TCGA Cosmic
KIF2A	O00139	p.Arg231Ter	rs750318761	stop gained	-	NC_000005.10:g.62357727C>T	ExAC,gnomAD
KIF2A	O00139	p.Arg231Gln	COSM261667	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62357728G>A	NCI-TCGA Cosmic
KIF2A	O00139	p.Thr238Ser	rs561322134	missense variant	-	NC_000005.10:g.62358140C>G	1000Genomes,ExAC,gnomAD
KIF2A	O00139	p.Thr238Ile	rs561322134	missense variant	-	NC_000005.10:g.62358140C>T	1000Genomes,ExAC,gnomAD
KIF2A	O00139	p.Met240Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62358147G>T	NCI-TCGA
KIF2A	O00139	p.Asp242Tyr	COSM1212453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62358151G>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Ile246Met	rs748314027	missense variant	-	NC_000005.10:g.62358165C>G	ExAC,gnomAD
KIF2A	O00139	p.Lys251Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62358179A>C	NCI-TCGA
KIF2A	O00139	p.Asp252Glu	rs1002650078	missense variant	-	NC_000005.10:g.62358183T>A	TOPMed
KIF2A	O00139	p.His257Arg	rs747058644	missense variant	-	NC_000005.10:g.62358197A>G	ExAC,gnomAD
KIF2A	O00139	p.Pro259Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62358202C>T	NCI-TCGA
KIF2A	O00139	p.Gln272Glu	rs759996312	missense variant	-	NC_000005.10:g.62358241C>G	ExAC,gnomAD
KIF2A	O00139	p.Arg275Cys	rs1375651707	missense variant	-	NC_000005.10:g.62358250C>T	gnomAD
KIF2A	O00139	p.Asp281Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62358269A>G	NCI-TCGA
KIF2A	O00139	p.Asp282Glu	rs1311115304	missense variant	-	NC_000005.10:g.62358273C>G	gnomAD
KIF2A	O00139	p.Pro285Leu	rs1232353083	missense variant	-	NC_000005.10:g.62358281C>T	gnomAD
KIF2A	O00139	p.Glu287Lys	COSM1069243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62358286G>A	NCI-TCGA Cosmic
KIF2A	O00139	p.Met288Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62358290T>C	NCI-TCGA
KIF2A	O00139	p.Arg291Ser	rs764986275	missense variant	-	NC_000005.10:g.62361242G>T	ExAC,gnomAD
KIF2A	O00139	p.Ile301Thr	rs1398039687	missense variant	-	NC_000005.10:g.62361271T>C	TOPMed
KIF2A	O00139	p.Gly305Val	rs758569102	missense variant	-	NC_000005.10:g.62361283G>T	ExAC,gnomAD
KIF2A	O00139	p.Gly313Glu	RCV000708562	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361307G>A	ClinVar
KIF2A	O00139	p.Ser317Asn	rs587777034	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (cdcbm3)	NC_000005.10:g.62361319G>A	-
KIF2A	O00139	p.Ser317Asn	rs587777034	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361319G>A	UniProt,dbSNP
KIF2A	O00139	p.Ser317Asn	VAR_070575	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361319G>A	UniProt
KIF2A	O00139	p.Ser317Asn	RCV000055624	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361319G>A	ClinVar
KIF2A	O00139	p.Thr320Ile	rs1554042050	missense variant	-	NC_000005.10:g.62361328C>T	-
KIF2A	O00139	p.Thr320Ile	RCV000501043	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361328C>T	ClinVar
KIF2A	O00139	p.His321Asp	RCV000055623	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361330C>G	ClinVar
KIF2A	O00139	p.His321Asp	rs587777033	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361330C>G	UniProt,dbSNP
KIF2A	O00139	p.His321Asp	VAR_070576	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (CDCBM3)	NC_000005.10:g.62361330C>G	UniProt
KIF2A	O00139	p.His321Asp	rs587777033	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (cdcbm3)	NC_000005.10:g.62361330C>G	gnomAD
KIF2A	O00139	p.His321Tyr	rs587777033	missense variant	Cortical dysplasia, complex, with other brain malformations 3 (cdcbm3)	NC_000005.10:g.62361330C>T	gnomAD
KIF2A	O00139	p.Asp326Glu	rs752464946	missense variant	-	NC_000005.10:g.62361480C>G	ExAC,gnomAD
KIF2A	O00139	p.Asp326Tyr	rs1221139550	missense variant	-	NC_000005.10:g.62361478G>T	gnomAD
KIF2A	O00139	p.Asn331Ser	rs958348972	missense variant	-	NC_000005.10:g.62361494A>G	TOPMed,gnomAD
KIF2A	O00139	p.Gly337Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.62361511G>T	NCI-TCGA
KIF2A	O00139	p.Ile338Val	rs1229150927	missense variant	-	NC_000005.10:g.62361514A>G	TOPMed
KIF2A	O00139	p.Ala342Thr	rs758143705	missense variant	-	NC_000005.10:g.62361526G>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Arg344Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.62362452C>T	NCI-TCGA
KIF2A	O00139	p.Arg344Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62362453G>A	NCI-TCGA
KIF2A	O00139	p.Asp345Glu	rs1210823198	missense variant	-	NC_000005.10:g.62362457T>A	gnomAD
KIF2A	O00139	p.Met349Ile	rs184854117	missense variant	-	NC_000005.10:g.62362469G>T	1000Genomes
KIF2A	O00139	p.Leu350Arg	rs1480810000	missense variant	-	NC_000005.10:g.62362471T>G	TOPMed
KIF2A	O00139	p.Lys351Arg	rs767803536	missense variant	-	NC_000005.10:g.62362474A>G	ExAC,gnomAD
KIF2A	O00139	p.Lys351Asn	rs867546096	missense variant	-	NC_000005.10:g.62362475G>T	gnomAD
KIF2A	O00139	p.Tyr355Cys	rs368021683	missense variant	-	NC_000005.10:g.62362486A>G	ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Lys356Arg	rs1385212736	missense variant	-	NC_000005.10:g.62362489A>G	gnomAD
KIF2A	O00139	p.Tyr363Phe	rs1238277530	missense variant	-	NC_000005.10:g.62362510A>T	gnomAD
KIF2A	O00139	p.Thr365Ala	rs1242846187	missense variant	-	NC_000005.10:g.62362515A>G	TOPMed
KIF2A	O00139	p.Arg380Lys	rs768385599	missense variant	-	NC_000005.10:g.62363197G>A	ExAC,gnomAD
KIF2A	O00139	p.Thr382Ile	rs767859496	missense variant	-	NC_000005.10:g.62363203C>T	ExAC,gnomAD
KIF2A	O00139	p.Val394Ile	rs766447107	missense variant	-	NC_000005.10:g.62363238G>A	ExAC,gnomAD
KIF2A	O00139	p.Gln395Ter	COSM5071323	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.62363241C>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Arg402Trp	rs111864686	missense variant	-	NC_000005.10:g.62363262C>T	TOPMed
KIF2A	O00139	p.Arg402Gln	rs754348400	missense variant	-	NC_000005.10:g.62363263G>A	ExAC,gnomAD
KIF2A	O00139	p.Glu403Gly	COSM3920233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62363266A>G	NCI-TCGA Cosmic
KIF2A	O00139	p.Val404Ala	rs755527027	missense variant	-	NC_000005.10:g.62363269T>C	ExAC,gnomAD
KIF2A	O00139	p.Cys406Tyr	rs779248435	missense variant	-	NC_000005.10:g.62363275G>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Asp409Asn	rs371821790	missense variant	-	NC_000005.10:g.62363283G>A	ESP,TOPMed
KIF2A	O00139	p.Val410Ile	rs1464122593	missense variant	-	NC_000005.10:g.62363286G>A	gnomAD
KIF2A	O00139	p.Ile416Met	rs1411894581	missense variant	-	NC_000005.10:g.62363306A>G	gnomAD
KIF2A	O00139	p.Asn418Ser	rs1321929246	missense variant	-	NC_000005.10:g.62363311A>G	gnomAD
KIF2A	O00139	p.Ser419Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62363314G>A	NCI-TCGA
KIF2A	O00139	p.Gly424Ser	rs1242069125	missense variant	-	NC_000005.10:g.62363702G>A	gnomAD
KIF2A	O00139	p.Gln425Glu	COSM3855799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62363705C>G	NCI-TCGA Cosmic
KIF2A	O00139	p.Ser427Pro	RCV000521852	missense variant	-	NC_000005.10:g.62363711T>C	ClinVar
KIF2A	O00139	p.Ser427Pro	rs1554042228	missense variant	-	NC_000005.10:g.62363711T>C	-
KIF2A	O00139	p.Ala428Thr	COSM3855801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62363714G>A	NCI-TCGA Cosmic
KIF2A	O00139	p.His431Arg	rs1283227353	missense variant	-	NC_000005.10:g.62363724A>G	gnomAD
KIF2A	O00139	p.Ser432Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.62363727C>A	NCI-TCGA
KIF2A	O00139	p.Arg434Gln	COSM1438084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62363733G>A	NCI-TCGA Cosmic
KIF2A	O00139	p.Arg445Lys	rs1283657709	missense variant	-	NC_000005.10:g.62363766G>A	gnomAD
KIF2A	O00139	p.Lys446Gln	rs1205655229	missense variant	-	NC_000005.10:g.62363768A>C	gnomAD
KIF2A	O00139	p.Leu455IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.62363794_62363800TCTCATT>-	NCI-TCGA
KIF2A	O00139	p.Ser468Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62363834T>C	NCI-TCGA
KIF2A	O00139	p.Ser469Gly	rs1459374015	missense variant	-	NC_000005.10:g.62363837A>G	TOPMed
KIF2A	O00139	p.Ala470Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62363841C>T	NCI-TCGA
KIF2A	O00139	p.Ser484Arg	rs372239097	missense variant	-	NC_000005.10:g.62363884C>A	ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Arg497Gly	rs1402946368	missense variant	-	NC_000005.10:g.62365264A>G	gnomAD
KIF2A	O00139	p.Asn498Ser	rs754604635	missense variant	-	NC_000005.10:g.62365268A>G	ExAC,gnomAD
KIF2A	O00139	p.Asn498Ser	RCV000624330	missense variant	Inborn genetic diseases	NC_000005.10:g.62365268A>G	ClinVar
KIF2A	O00139	p.Thr502Asn	rs201066401	missense variant	-	NC_000005.10:g.62365280C>A	1000Genomes,ExAC,gnomAD
KIF2A	O00139	p.Ala506Val	rs1310318091	missense variant	-	NC_000005.10:g.62365292C>T	gnomAD
KIF2A	O00139	p.Asp515Asn	rs1205718714	missense variant	-	NC_000005.10:g.62365318G>A	gnomAD
KIF2A	O00139	p.Ser516Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62365322C>G	NCI-TCGA
KIF2A	O00139	p.Ile518Thr	rs770617593	missense variant	-	NC_000005.10:g.62365328T>C	ExAC,gnomAD
KIF2A	O00139	p.Gly519Ser	rs781542903	missense variant	-	NC_000005.10:g.62365330G>A	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Arg523His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62365343G>A	NCI-TCGA
KIF2A	O00139	p.Arg523Cys	rs746047504	missense variant	-	NC_000005.10:g.62365342C>T	ExAC,gnomAD
KIF2A	O00139	p.Ile527Phe	rs1222284110	missense variant	-	NC_000005.10:g.62366414A>T	gnomAD
KIF2A	O00139	p.Ser536Phe	rs1481727417	missense variant	-	NC_000005.10:g.62366442C>T	gnomAD
KIF2A	O00139	p.Asn548Tyr	COSM3994368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62366477A>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Glu552Ter	COSM3828258	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.62373694G>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Val555Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62373704T>C	NCI-TCGA
KIF2A	O00139	p.Pro557Thr	rs1233263818	missense variant	-	NC_000005.10:g.62373709C>A	gnomAD
KIF2A	O00139	p.Thr558Ala	rs1471087520	missense variant	-	NC_000005.10:g.62373712A>G	gnomAD
KIF2A	O00139	p.Thr558Ile	rs1189394916	missense variant	-	NC_000005.10:g.62373713C>T	gnomAD
KIF2A	O00139	p.Arg564His	rs139442261	missense variant	-	NC_000005.10:g.62373731G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Arg564Cys	rs771417898	missense variant	-	NC_000005.10:g.62373730C>T	ExAC,gnomAD
KIF2A	O00139	p.Ile566Leu	rs370786223	missense variant	-	NC_000005.10:g.62373736A>T	ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Met567Ile	rs773766669	missense variant	-	NC_000005.10:g.62373741G>A	ExAC,gnomAD
KIF2A	O00139	p.Met567Arg	rs750108492	missense variant	-	NC_000005.10:g.62373740T>G	ExAC,gnomAD
KIF2A	O00139	p.Met567Thr	rs750108492	missense variant	-	NC_000005.10:g.62373740T>C	ExAC,gnomAD
KIF2A	O00139	p.His568Pro	rs761320629	missense variant	-	NC_000005.10:g.62373743A>C	ExAC,gnomAD
KIF2A	O00139	p.His568Arg	rs761320629	missense variant	-	NC_000005.10:g.62373743A>G	ExAC,gnomAD
KIF2A	O00139	p.Pro570Leu	rs1444894205	missense variant	-	NC_000005.10:g.62373749C>T	gnomAD
KIF2A	O00139	p.Asn572Lys	rs1331898817	missense variant	-	NC_000005.10:g.62373756C>A	TOPMed
KIF2A	O00139	p.Ile574Phe	rs1325703693	missense variant	-	NC_000005.10:g.62373760A>T	TOPMed
KIF2A	O00139	p.Ile574Thr	rs141548628	missense variant	-	NC_000005.10:g.62373761T>C	ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Asp576Glu	rs766134070	missense variant	-	NC_000005.10:g.62373768C>A	ExAC,gnomAD
KIF2A	O00139	p.Asp576Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62373766G>A	NCI-TCGA
KIF2A	O00139	p.Gln580Pro	rs754112220	missense variant	-	NC_000005.10:g.62373779A>C	ExAC,gnomAD
KIF2A	O00139	p.Trp581Ter	rs755183498	stop gained	-	NC_000005.10:g.62373782G>A	ExAC,gnomAD
KIF2A	O00139	p.Gly582Ala	rs1273365993	missense variant	-	NC_000005.10:g.62373785G>C	gnomAD
KIF2A	O00139	p.Ser585Thr	rs779121896	missense variant	-	NC_000005.10:g.62373794G>C	ExAC,gnomAD
KIF2A	O00139	p.Gln588His	rs748185496	missense variant	-	NC_000005.10:g.62373804G>T	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Gln588His	rs748185496	missense variant	-	NC_000005.10:g.62373804G>C	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Asp591Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62373811G>T	NCI-TCGA
KIF2A	O00139	p.Leu595Pro	rs778490530	missense variant	-	NC_000005.10:g.62373824T>C	ExAC,gnomAD
KIF2A	O00139	p.Leu595Ile	COSM1069248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62373823C>A	NCI-TCGA Cosmic
KIF2A	O00139	p.Gln598Arg	rs747484896	missense variant	-	NC_000005.10:g.62373833A>G	ExAC,gnomAD
KIF2A	O00139	p.Gln598His	COSM3776771	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62373834A>C	NCI-TCGA Cosmic
KIF2A	O00139	p.Val603Ile	rs752958193	missense variant	-	NC_000005.10:g.62377670G>A	ExAC,gnomAD
KIF2A	O00139	p.Glu612Lys	rs1052613653	missense variant	-	NC_000005.10:g.62377697G>A	TOPMed
KIF2A	O00139	p.Gln623Glu	rs781738321	missense variant	-	NC_000005.10:g.62377730C>G	ExAC,gnomAD
KIF2A	O00139	p.Arg629Lys	rs1320818197	missense variant	-	NC_000005.10:g.62377749G>A	TOPMed
KIF2A	O00139	p.Val631Gly	rs1335167902	missense variant	-	NC_000005.10:g.62377755T>G	gnomAD
KIF2A	O00139	p.Glu634Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.62381118G>T	NCI-TCGA
KIF2A	O00139	p.Ile636Val	rs763258220	missense variant	-	NC_000005.10:g.62381124A>G	ExAC,gnomAD
KIF2A	O00139	p.Arg637Gln	rs1195921358	missense variant	-	NC_000005.10:g.62381128G>A	TOPMed
KIF2A	O00139	p.Arg637Trp	rs764372768	missense variant	-	NC_000005.10:g.62381127C>T	ExAC,gnomAD
KIF2A	O00139	p.Glu640Asp	rs751694383	missense variant	-	NC_000005.10:g.62381138A>T	ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Glu640Lys	rs1340819916	missense variant	-	NC_000005.10:g.62381136G>A	TOPMed
KIF2A	O00139	p.Asp641His	rs1183163237	missense variant	-	NC_000005.10:g.62381139G>C	TOPMed,gnomAD
KIF2A	O00139	p.Lys643ArgPheSerTerUnk	COSM1438088	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.62381143A>-	NCI-TCGA Cosmic
KIF2A	O00139	p.Ala644Ser	rs61748225	missense variant	-	NC_000005.10:g.62381148G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Ala644Thr	RCV000603646	missense variant	-	NC_000005.10:g.62381148G>A	ClinVar
KIF2A	O00139	p.Ala644Thr	rs61748225	missense variant	-	NC_000005.10:g.62381148G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Ala644Val	COSM3828260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62381149C>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Met648Ile	rs1175132161	missense variant	-	NC_000005.10:g.62381162G>A	TOPMed,gnomAD
KIF2A	O00139	p.Thr649Asn	rs1335456929	missense variant	-	NC_000005.10:g.62381164C>A	TOPMed
KIF2A	O00139	p.Glu651Val	rs1467277470	missense variant	-	NC_000005.10:g.62381170A>T	gnomAD
KIF2A	O00139	p.Val656Ala	rs1296177376	missense variant	-	NC_000005.10:g.62381185T>C	gnomAD
KIF2A	O00139	p.Ser658Leu	COSM482944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62381191C>T	NCI-TCGA Cosmic
KIF2A	O00139	p.Glu664Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62381208G>A	NCI-TCGA
KIF2A	O00139	p.Ala665Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62381212C>G	NCI-TCGA
KIF2A	O00139	p.Ile666Thr	rs1309040593	missense variant	-	NC_000005.10:g.62381215T>C	gnomAD
KIF2A	O00139	p.Ile671LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.62381230T>-	NCI-TCGA
KIF2A	O00139	p.Asp672Glu	rs756478314	missense variant	-	NC_000005.10:g.62381234C>G	ExAC,gnomAD
KIF2A	O00139	p.Thr675Ala	rs144092095	missense variant	-	NC_000005.10:g.62381241A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Thr675Ser	rs370754960	missense variant	-	NC_000005.10:g.62381242C>G	ESP,ExAC,TOPMed,gnomAD
KIF2A	O00139	p.Glu676Lys	rs1212521093	missense variant	-	NC_000005.10:g.62381244G>A	gnomAD
KIF2A	O00139	p.Arg678Gln	rs777345819	missense variant	-	NC_000005.10:g.62381251G>A	ExAC,gnomAD
KIF2A	O00139	p.Arg678Trp	rs771712968	missense variant	-	NC_000005.10:g.62381250C>T	ExAC,gnomAD
KIF2A	O00139	p.Asp679Gly	rs1222410390	missense variant	-	NC_000005.10:g.62385484A>G	gnomAD
KIF2A	O00139	p.Val681Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62385490T>A	NCI-TCGA
KIF2A	O00139	p.Ser683Cys	COSM738428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62385496C>G	NCI-TCGA Cosmic
KIF2A	O00139	p.Ser683Tyr	COSM282238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.62385496C>A	NCI-TCGA Cosmic
KIF2A	O00139	p.Arg685Cys	rs1314600069	missense variant	-	NC_000005.10:g.62385501C>T	TOPMed,gnomAD
KIF2A	O00139	p.Arg685His	rs865783903	missense variant	-	NC_000005.10:g.62385502G>A	gnomAD
KIF2A	O00139	p.Arg685Leu	rs865783903	missense variant	-	NC_000005.10:g.62385502G>T	gnomAD
KIF2A	O00139	p.Ala687Val	rs1260569794	missense variant	-	NC_000005.10:g.62385508C>T	gnomAD
KIF2A	O00139	p.Gln689Arg	rs1460358579	missense variant	-	NC_000005.10:g.62385514A>G	TOPMed
KIF2A	O00139	p.Ile698Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.62385541T>G	NCI-TCGA
KIF2A	O00139	p.Asn699Asp	rs1423841609	missense variant	-	NC_000005.10:g.62385543A>G	gnomAD
KIF2A	O00139	p.Pro700Leu	rs1351592249	missense variant	-	NC_000005.10:g.62385547C>T	TOPMed,gnomAD
KIF2A	O00139	p.Arg704His	rs780774764	missense variant	-	NC_000005.10:g.62385559G>A	ExAC,gnomAD
KIF2A	O00139	p.Arg704Cys	rs1002718601	missense variant	-	NC_000005.10:g.62385558C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg4Gln	rs150974461	missense variant	-	NC_000004.12:g.95104435G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg4Pro	rs150974461	missense variant	-	NC_000004.12:g.95104435G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser5Arg	rs1466418430	missense variant	-	NC_000004.12:g.95104439T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ala6Thr	rs143885868	missense variant	-	NC_000004.12:g.95104440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly7Arg	rs1279515650	missense variant	-	NC_000004.12:g.95104443G>A	TOPMed
BMPR1B	O00238	p.Thr13Ile	rs1374698890	missense variant	-	NC_000004.12:g.95104462C>T	TOPMed
BMPR1B	O00238	p.Lys14Gln	rs763496728	missense variant	-	NC_000004.12:g.95104464A>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys15Glu	rs1346115955	missense variant	-	NC_000004.12:g.95104467A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Glu19Asp	rs773850751	missense variant	-	NC_000004.12:g.95104481G>C	ExAC,gnomAD
BMPR1B	O00238	p.Ser20Gly	rs1281247073	missense variant	-	NC_000004.12:g.95104482A>G	gnomAD
BMPR1B	O00238	p.Thr21Ile	rs190883013	missense variant	-	NC_000004.12:g.95104486C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr24Ala	rs754365645	missense variant	-	NC_000004.12:g.95104494A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr24Ile	rs912115035	missense variant	-	NC_000004.12:g.95104495C>T	-
BMPR1B	O00238	p.Thr24Ile	rs912115035	missense variant	-	NC_000004.12:g.95104495C>T	NCI-TCGA
BMPR1B	O00238	p.Thr24Ala	RCV000425791	missense variant	-	NC_000004.12:g.95104494A>G	ClinVar
BMPR1B	O00238	p.Pro25Arg	rs145700191	missense variant	-	NC_000004.12:g.95104498C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro25His	rs145700191	missense variant	-	NC_000004.12:g.95104498C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.95104494_95104495insC	NCI-TCGA
BMPR1B	O00238	p.Arg26Pro	rs377000102	missense variant	-	NC_000004.12:g.95104501G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26Cys	rs758706811	missense variant	-	NC_000004.12:g.95104500C>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg26His	rs377000102	missense variant	-	NC_000004.12:g.95104501G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26ValPheSerTerUnkUnk	COSM5083601	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.95104495C>-	NCI-TCGA Cosmic
BMPR1B	O00238	p.Arg26Cys	rs758706811	missense variant	-	NC_000004.12:g.95104500C>T	NCI-TCGA,NCI-TCGA Cosmic
BMPR1B	O00238	p.Pro27Arg	rs757312834	missense variant	-	NC_000004.12:g.95104504C>G	ExAC,gnomAD
BMPR1B	O00238	p.Pro27Arg	RCV000625922	missense variant	Primary pulmonary hypertension 3 (PPH3)	NC_000004.12:g.95104504C>G	ClinVar
BMPR1B	O00238	p.Val29Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95104509G>A	NCI-TCGA
BMPR1B	O00238	p.Val29Phe	rs773417270	missense variant	-	NC_000004.12:g.95104509G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Ser	rs745854387	missense variant	-	NC_000004.12:g.95104515C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg31His	VAR_041401	missense variant	-	NC_000004.12:g.95104516G>A	UniProt
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31His	RCV000263624	missense variant	Brachydactyly	NC_000004.12:g.95104516G>A	ClinVar
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg31Cys	VAR_075520	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	-	NC_000004.12:g.95104515C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	RCV000201128	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	ClinVar
BMPR1B	O00238	p.His37Tyr	rs1409575151	missense variant	-	NC_000004.12:g.95104533C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Glu40Gly	rs1381581400	missense variant	-	NC_000004.12:g.95104543A>G	TOPMed
BMPR1B	O00238	p.Asp41Tyr	rs775495653	missense variant	-	NC_000004.12:g.95104545G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn45Tyr	rs749047942	missense variant	-	NC_000004.12:g.95104557A>T	ExAC,gnomAD
BMPR1B	O00238	p.Asn45Asp	rs749047942	missense variant	-	NC_000004.12:g.95104557A>G	ExAC,gnomAD
BMPR1B	O00238	p.Gly51Val	rs1245250823	missense variant	-	NC_000004.12:g.95114728G>T	gnomAD
BMPR1B	O00238	p.Cys53Arg	rs863225041	missense variant	-	NC_000004.12:g.95114733T>C	-
BMPR1B	O00238	p.Cys53Arg	RCV000201167	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95114733T>C	ClinVar
BMPR1B	O00238	p.Cys53Phe	COSM1431866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95114734G>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Thr55Met	rs1033648877	missense variant	-	NC_000004.12:g.95114740C>T	gnomAD
BMPR1B	O00238	p.Met56Thr	rs1191790811	missense variant	-	NC_000004.12:g.95114743T>C	TOPMed
BMPR1B	O00238	p.Ile57Val	rs1470243376	missense variant	-	NC_000004.12:g.95114745A>G	TOPMed
BMPR1B	O00238	p.Ile57Thr	rs1364478234	missense variant	-	NC_000004.12:g.95114746T>C	gnomAD
BMPR1B	O00238	p.Asp61Ala	rs1553939371	missense variant	-	NC_000004.12:g.95114758A>C	-
BMPR1B	O00238	p.Asp61Ala	RCV000596072	missense variant	-	NC_000004.12:g.95114758A>C	ClinVar
BMPR1B	O00238	p.Ser62Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95114761C>G	NCI-TCGA
BMPR1B	O00238	p.Pro65Ser	COSM448356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95114769C>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Val66Met	rs1176860852	missense variant	-	NC_000004.12:g.95114772G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Val67Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95114775G>T	NCI-TCGA
BMPR1B	O00238	p.Gly70Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95114785G>T	NCI-TCGA
BMPR1B	O00238	p.Leu74GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.95114794_95114795insGGAAAAGGAAATA	NCI-TCGA
BMPR1B	O00238	p.Gly76Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95114802G>T	NCI-TCGA
BMPR1B	O00238	p.Ser77Ala	rs200702974	missense variant	-	NC_000004.12:g.95114805T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp78Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95114808G>A	NCI-TCGA
BMPR1B	O00238	p.Cys81Phe	COSM481693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95114818G>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Arg82Trp	COSM6168235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95114820C>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Arg82Pro	COSM1431869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95114821G>C	NCI-TCGA Cosmic
BMPR1B	O00238	p.Asp83Gly	rs140970485	missense variant	-	NC_000004.12:g.95115686A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Tyr	rs369807264	missense variant	-	NC_000004.12:g.95115685G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Val	rs140970485	missense variant	-	NC_000004.12:g.95115686A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Ala	rs140970485	missense variant	-	NC_000004.12:g.95115686A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Asn	rs369807264	missense variant	-	NC_000004.12:g.95115685G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Glu	rs890305622	missense variant	-	NC_000004.12:g.95115687C>A	TOPMed
BMPR1B	O00238	p.Asp83His	rs369807264	missense variant	-	NC_000004.12:g.95115685G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr84Ile	rs200083866	missense variant	-	NC_000004.12:g.95115689C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr84Ala	rs192392906	missense variant	-	NC_000004.12:g.95115688A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr84Ser	rs192392906	missense variant	-	NC_000004.12:g.95115688A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Pro85Ser	rs762270033	missense variant	-	NC_000004.12:g.95115691C>T	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Arg	rs767805662	missense variant	-	NC_000004.12:g.95115692C>G	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Leu	rs767805662	missense variant	-	NC_000004.12:g.95115692C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile86Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95115695T>C	NCI-TCGA
BMPR1B	O00238	p.Ile86Phe	rs1200081382	missense variant	-	NC_000004.12:g.95115694A>T	gnomAD
BMPR1B	O00238	p.Pro87Ser	COSM3607134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95115697C>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.His88Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95115701A>G	NCI-TCGA
BMPR1B	O00238	p.Gln89His	rs558142045	missense variant	-	NC_000004.12:g.95115705A>T	1000Genomes
BMPR1B	O00238	p.Arg90Lys	rs1486216727	missense variant	-	NC_000004.12:g.95115707G>A	gnomAD
BMPR1B	O00238	p.Arg91Ile	rs376183647	missense variant	-	NC_000004.12:g.95115710G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu94Ala	rs139161475	missense variant	-	NC_000004.12:g.95115719A>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu94Val	rs139161475	missense variant	-	NC_000004.12:g.95115719A>T	ExAC,gnomAD
BMPR1B	O00238	p.Glu94Lys	rs200886063	missense variant	-	NC_000004.12:g.95115718G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Lys	rs151289886	missense variant	-	NC_000004.12:g.95115728C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ser	rs759423600	missense variant	-	NC_000004.12:g.95115727A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Arg	rs151289886	missense variant	-	NC_000004.12:g.95115728C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ile	rs151289886	missense variant	-	NC_000004.12:g.95115728C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ala	RCV000304200	missense variant	-	NC_000004.12:g.95115727A>G	ClinVar
BMPR1B	O00238	p.Thr97Ala	rs759423600	missense variant	-	NC_000004.12:g.95115727A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu101Lys	COSM274143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95115739G>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.His107Leu	rs746713318	missense variant	-	NC_000004.12:g.95115758A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr109Ile	rs1386616728	missense variant	-	NC_000004.12:g.95115764C>T	gnomAD
BMPR1B	O00238	p.Pro112Ser	rs1225550138	missense variant	-	NC_000004.12:g.95115772C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg116Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95115785G>T	NCI-TCGA
BMPR1B	O00238	p.Asp117Asn	rs571763786	missense variant	-	NC_000004.12:g.95115787G>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Phe118Leu	rs1185014709	missense variant	-	NC_000004.12:g.95123812T>C	gnomAD
BMPR1B	O00238	p.Val119Gly	rs541202129	missense variant	-	NC_000004.12:g.95123816T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Asp120Asn	rs1422671894	missense variant	-	NC_000004.12:g.95123818G>A	gnomAD
BMPR1B	O00238	p.Gly121Ter	RCV000006935	frameshift	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95123821_95123828del	ClinVar
BMPR1B	O00238	p.Pro122His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95123825C>A	NCI-TCGA
BMPR1B	O00238	p.His124Tyr	rs759803347	missense variant	-	NC_000004.12:g.95123830C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His124Arg	rs1397484175	missense variant	-	NC_000004.12:g.95123831A>G	TOPMed
BMPR1B	O00238	p.Arg126Lys	rs1366056747	missense variant	-	NC_000004.12:g.95123837G>A	gnomAD
BMPR1B	O00238	p.Leu129Phe	rs755669488	missense variant	-	NC_000004.12:g.95123845C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ser131Thr	rs561117066	missense variant	-	NC_000004.12:g.95123851T>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ser131Phe	COSM3776082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95123852C>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Val132Leu	rs931491708	missense variant	-	NC_000004.12:g.95123854G>T	TOPMed
BMPR1B	O00238	p.Val132Gly	rs150002205	missense variant	-	NC_000004.12:g.95123855T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr133Pro	rs772559135	missense variant	-	NC_000004.12:g.95123857A>C	ExAC
BMPR1B	O00238	p.Val134Ile	rs747412096	missense variant	-	NC_000004.12:g.95123860G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val134Ala	rs1392029669	missense variant	-	NC_000004.12:g.95123861T>C	gnomAD
BMPR1B	O00238	p.Cys135Gly	rs145201971	missense variant	-	NC_000004.12:g.95123863T>G	ESP,ExAC,TOPMed
BMPR1B	O00238	p.Cys135ValPheSerTerUnkUnk	COSM448358	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.95123858_95123861CTGT>-	NCI-TCGA Cosmic
BMPR1B	O00238	p.Leu139Phe	rs1250134332	missense variant	-	NC_000004.12:g.95123877G>T	TOPMed
BMPR1B	O00238	p.Leu139Met	rs1324227207	missense variant	-	NC_000004.12:g.95123875T>A	TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	rs138801821	missense variant	-	NC_000004.12:g.95123878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	RCV000202696	missense variant	-	NC_000004.12:g.95123878G>A	ClinVar
BMPR1B	O00238	p.Leu141Val	rs1346621381	missense variant	-	NC_000004.12:g.95123881C>G	gnomAD
BMPR1B	O00238	p.Ile142Leu	COSM3607137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95123884A>C	NCI-TCGA Cosmic
BMPR1B	O00238	p.Cys146Tyr	COSM3826460	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95123897G>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg149Trp	rs34231464	missense variant	-	NC_000004.12:g.95123905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg149Trp	RCV000333918	missense variant	Brachydactyly	NC_000004.12:g.95123905C>T	ClinVar
BMPR1B	O00238	p.Gln153Arg	rs1197682678	missense variant	-	NC_000004.12:g.95124994A>G	gnomAD
BMPR1B	O00238	p.Glu154Lys	rs1172006396	missense variant	-	NC_000004.12:g.95124996G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr155Asn	rs140360809	missense variant	-	NC_000004.12:g.95125000C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg156Thr	rs769863111	missense variant	-	NC_000004.12:g.95125003G>C	ExAC,gnomAD
BMPR1B	O00238	p.Pro157Ser	rs779609471	missense variant	-	NC_000004.12:g.95125005C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro157Thr	rs779609471	missense variant	-	NC_000004.12:g.95125005C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro157Ser	RCV000424734	missense variant	-	NC_000004.12:g.95125005C>T	ClinVar
BMPR1B	O00238	p.Arg158Gln	rs761486688	missense variant	-	NC_000004.12:g.95125009G>A	ExAC,gnomAD
BMPR1B	O00238	p.Arg158Gly	rs774364369	missense variant	-	NC_000004.12:g.95125008C>G	ExAC,gnomAD
BMPR1B	O00238	p.Tyr159Asp	rs1366100450	missense variant	-	NC_000004.12:g.95125011T>G	gnomAD
BMPR1B	O00238	p.Ser160Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95125015G>T	NCI-TCGA
BMPR1B	O00238	p.Ser160Asn	rs149589961	missense variant	-	NC_000004.12:g.95125015G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser160Cys	rs750037039	missense variant	-	NC_000004.12:g.95125014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile161Ser	rs766140919	missense variant	-	NC_000004.12:g.95125018T>G	ExAC,gnomAD
BMPR1B	O00238	p.Leu163Ile	rs1438025940	missense variant	-	NC_000004.12:g.95125023T>A	TOPMed
BMPR1B	O00238	p.Glu164Lys	rs754565613	missense variant	-	NC_000004.12:g.95125026G>A	ExAC,gnomAD
BMPR1B	O00238	p.Glu164Gln	rs754565613	missense variant	-	NC_000004.12:g.95125026G>C	ExAC,gnomAD
BMPR1B	O00238	p.Asp166His	rs752156962	missense variant	-	NC_000004.12:g.95125032G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Asn	rs752156962	missense variant	-	NC_000004.12:g.95125032G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Ala	rs781670372	missense variant	-	NC_000004.12:g.95125033A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Val	rs781670372	missense variant	-	NC_000004.12:g.95125033A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu167Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95125035G>C	NCI-TCGA
BMPR1B	O00238	p.Glu167Ala	rs1490974342	missense variant	-	NC_000004.12:g.95125036A>C	gnomAD
BMPR1B	O00238	p.Thr168Ser	rs373998952	missense variant	-	NC_000004.12:g.95125039C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Tyr169Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.95125043C>-	NCI-TCGA
BMPR1B	O00238	p.Tyr169Ser	rs769948288	missense variant	-	NC_000004.12:g.95125042A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Thr	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Ser	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Val	rs778170724	missense variant	-	NC_000004.12:g.95125044A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Met	rs768768926	missense variant	-	NC_000004.12:g.95125046T>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile170Phe	rs778170724	missense variant	-	NC_000004.12:g.95125044A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro171Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95125047C>A	NCI-TCGA
BMPR1B	O00238	p.Ser175AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.95125058_95125077ATCCCTGAGAGACTTAATTG>-	NCI-TCGA
BMPR1B	O00238	p.Ser175Ala	rs143554488	missense variant	-	NC_000004.12:g.95125059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Pro	rs143554488	missense variant	-	NC_000004.12:g.95125059T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Phe	rs367777041	missense variant	-	NC_000004.12:g.95125060C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Cys	rs367777041	missense variant	-	NC_000004.12:g.95125060C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu176Val	rs1337920731	missense variant	-	NC_000004.12:g.95125062C>G	TOPMed
BMPR1B	O00238	p.Leu176Pro	rs771747962	missense variant	-	NC_000004.12:g.95125063T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg177Gly	rs773000162	missense variant	-	NC_000004.12:g.95125065A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg177Lys	COSM3826463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95125066G>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.Asp178Asn	rs1442468616	missense variant	-	NC_000004.12:g.95125068G>A	gnomAD
BMPR1B	O00238	p.Leu179Phe	rs766089514	missense variant	-	NC_000004.12:g.95125073A>C	ExAC,gnomAD
BMPR1B	O00238	p.Leu179Ser	rs911866039	missense variant	-	NC_000004.12:g.95125072T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile180Asn	rs776445882	missense variant	-	NC_000004.12:g.95125075T>A	ExAC
BMPR1B	O00238	p.Ile180Thr	rs776445882	missense variant	-	NC_000004.12:g.95125075T>C	ExAC
BMPR1B	O00238	p.Gln182Arg	rs1384205404	missense variant	-	NC_000004.12:g.95125081A>G	TOPMed
BMPR1B	O00238	p.Gln182His	rs1362547455	missense variant	-	NC_000004.12:g.95125082G>T	gnomAD
BMPR1B	O00238	p.Ser183Pro	RCV000664165	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000004.12:g.95125083T>C	ClinVar
BMPR1B	O00238	p.Ser183Thr	rs141691706	missense variant	-	NC_000004.12:g.95125083T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser183Pro	rs141691706	missense variant	-	NC_000004.12:g.95125083T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln184Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.95125086C>T	NCI-TCGA
BMPR1B	O00238	p.Gly187Ala	rs200839585	missense variant	-	NC_000004.12:g.95125096G>C	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Leu194Arg	rs767925715	missense variant	-	NC_000004.12:g.95125117T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Pro	rs767925715	missense variant	-	NC_000004.12:g.95125117T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Gln	rs767925715	missense variant	-	NC_000004.12:g.95125117T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Val	rs757843329	missense variant	-	NC_000004.12:g.95125116C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt,dbSNP
BMPR1B	O00238	p.Ile200Lys	VAR_023819	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	-	NC_000004.12:g.95129875T>A	-
BMPR1B	O00238	p.Ile200Lys	RCV000006933	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129875T>A	ClinVar
BMPR1B	O00238	p.Ile200Val	rs750954022	missense variant	-	NC_000004.12:g.95129874A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala201Ter	COSM5834894	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.95129872_95129873insTA	NCI-TCGA Cosmic
BMPR1B	O00238	p.Lys202Arg	rs185062260	missense variant	-	NC_000004.12:g.95129881A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Lys202Arg	RCV000766164	missense variant	-	NC_000004.12:g.95129881A>G	ClinVar
BMPR1B	O00238	p.Gln205Glu	rs766791531	missense variant	-	NC_000004.12:g.95129889C>G	ExAC,gnomAD
BMPR1B	O00238	p.Met206Val	rs1344379581	missense variant	-	NC_000004.12:g.95129892A>G	TOPMed
BMPR1B	O00238	p.Lys208Gln	rs1260652488	missense variant	-	NC_000004.12:g.95129898A>C	gnomAD
BMPR1B	O00238	p.Gln209Glu	rs1299044974	missense variant	-	NC_000004.12:g.95129901C>G	TOPMed
BMPR1B	O00238	p.Gln209Pro	rs1176798119	missense variant	-	NC_000004.12:g.95129902A>C	gnomAD
BMPR1B	O00238	p.Ile210Val	rs754044696	missense variant	-	NC_000004.12:g.95129904A>G	ExAC,gnomAD
BMPR1B	O00238	p.Gly211Glu	COSM1310393	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95129908G>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.Arg214His	rs755131943	missense variant	-	NC_000004.12:g.95129917G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg214Ser	rs1553941890	missense variant	-	NC_000004.12:g.95129916C>A	-
BMPR1B	O00238	p.Arg214Ser	RCV000519599	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129916C>A	ClinVar
BMPR1B	O00238	p.Tyr215Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95129920A>C	NCI-TCGA
BMPR1B	O00238	p.Gly216Ala	rs779006691	missense variant	-	NC_000004.12:g.95129923G>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu217Lys	rs748217063	missense variant	-	NC_000004.12:g.95129925G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val218Asp	rs1303785017	missense variant	-	NC_000004.12:g.95129929T>A	TOPMed
BMPR1B	O00238	p.Trp219Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95129933G>T	NCI-TCGA
BMPR1B	O00238	p.Trp219Ter	rs863225042	stop gained	-	NC_000004.12:g.95129933G>A	-
BMPR1B	O00238	p.Trp219Ter	RCV000201044	nonsense	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95129933G>A	ClinVar
BMPR1B	O00238	p.Lys222ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.95129940_95129941insG	NCI-TCGA
BMPR1B	O00238	p.Lys222Thr	rs957165736	missense variant	-	NC_000004.12:g.95129941A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Lys222Glu	rs758429876	missense variant	-	NC_000004.12:g.95129940A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Trp223Cys	rs1295971366	missense variant	-	NC_000004.12:g.95129945G>C	TOPMed
BMPR1B	O00238	p.Arg224Leu	rs35973133	missense variant	-	NC_000004.12:g.95129947G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg224His	VAR_041403	missense variant	-	NC_000004.12:g.95129947G>A	UniProt
BMPR1B	O00238	p.Arg224Cys	rs777745046	missense variant	-	NC_000004.12:g.95129946C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	RCV000386085	missense variant	Brachydactyly	NC_000004.12:g.95129947G>A	ClinVar
BMPR1B	O00238	p.Arg224Cys	rs777745046	missense variant	-	NC_000004.12:g.95129946C>T	NCI-TCGA,NCI-TCGA Cosmic
BMPR1B	O00238	p.Glu226Ter	COSM1059073	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.95129952G>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Lys227Asn	rs1200045028	missense variant	-	NC_000004.12:g.95129957G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Gln	rs574398307	missense variant	-	NC_000004.12:g.95129955A>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Glu	rs574398307	missense variant	-	NC_000004.12:g.95129955A>G	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Met	rs372556235	missense variant	-	NC_000004.12:g.95129956A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val228Ile	rs745674753	missense variant	-	NC_000004.12:g.95129958G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ala229Val	rs769423606	missense variant	-	NC_000004.12:g.95129962C>T	ExAC,gnomAD
BMPR1B	O00238	p.Lys231Ter	rs1207219833	stop gained	-	NC_000004.12:g.95129967A>T	gnomAD
BMPR1B	O00238	p.Phe234Leu	rs536641256	missense variant	-	NC_000004.12:g.95129978C>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr236Ala	rs1468067202	missense variant	-	NC_000004.12:g.95129982A>G	gnomAD
BMPR1B	O00238	p.Ala239Ser	rs773700021	missense variant	-	NC_000004.12:g.95129991G>T	ExAC,gnomAD
BMPR1B	O00238	p.Phe242Tyr	rs754133041	missense variant	-	NC_000004.12:g.95130001T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Val	rs761226009	missense variant	-	NC_000004.12:g.95130000T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ile	rs761226009	missense variant	-	NC_000004.12:g.95130000T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs761226009	missense variant	-	NC_000004.12:g.95130000T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ser	rs754133041	missense variant	-	NC_000004.12:g.95130001T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Cys	rs754133041	missense variant	-	NC_000004.12:g.95130001T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	RCV000328112	missense variant	Brachydactyly	NC_000004.12:g.95130004G>A	ClinVar
BMPR1B	O00238	p.Arg243Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.95130003A>T	NCI-TCGA
BMPR1B	O00238	p.Arg243Ser	rs1306782325	missense variant	-	NC_000004.12:g.95130005A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	rs886059731	missense variant	-	NC_000004.12:g.95130004G>A	gnomAD
BMPR1B	O00238	p.Arg243Gly	rs755476693	missense variant	-	NC_000004.12:g.95130003A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Lys	rs751532146	missense variant	-	NC_000004.12:g.95130010C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Arg	rs751532146	missense variant	-	NC_000004.12:g.95130010C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.95130012G>T	NCI-TCGA
BMPR1B	O00238	p.Glu246Lys	rs369168607	missense variant	-	NC_000004.12:g.95130012G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Ala	rs779737736	missense variant	-	NC_000004.12:g.95130013A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Asp	rs748957679	missense variant	-	NC_000004.12:g.95130014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Glu246Gln	rs369168607	missense variant	-	NC_000004.12:g.95130012G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Gly	rs779737736	missense variant	-	NC_000004.12:g.95130013A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Val	rs779737736	missense variant	-	NC_000004.12:g.95130013A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile247Met	rs1270927104	missense variant	-	NC_000004.12:g.95130017A>G	gnomAD
BMPR1B	O00238	p.Gln249Ter	rs142696562	stop gained	-	NC_000004.12:g.95130021C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Glu	rs142696562	missense variant	-	NC_000004.12:g.95130021C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Ter	rs142696562	stop gained	-	NC_000004.12:g.95130021C>T	NCI-TCGA
BMPR1B	O00238	p.Gln249Leu	rs187868598	missense variant	-	NC_000004.12:g.95130022A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Gln249Arg	rs187868598	missense variant	-	NC_000004.12:g.95130022A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr250Ile	rs771385869	missense variant	-	NC_000004.12:g.95130025C>T	ExAC,gnomAD
BMPR1B	O00238	p.Thr250Pro	rs1223084316	missense variant	-	NC_000004.12:g.95130024A>C	gnomAD
BMPR1B	O00238	p.Val251Gly	rs1463003460	missense variant	-	NC_000004.12:g.95130028T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Thr	rs1044164391	missense variant	-	NC_000004.12:g.95130034T>C	gnomAD
BMPR1B	O00238	p.Met253Leu	rs948475886	missense variant	-	NC_000004.12:g.95130033A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	rs200198618	missense variant	-	NC_000004.12:g.95130038G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	RCV000384921	missense variant	Brachydactyly	NC_000004.12:g.95130038G>T	ClinVar
BMPR1B	O00238	p.Asn257Asp	rs201034260	missense variant	-	NC_000004.12:g.95130045A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn257Asp	RCV000480897	missense variant	-	NC_000004.12:g.95130045A>G	ClinVar
BMPR1B	O00238	p.Ile258Val	rs1473660478	missense variant	-	NC_000004.12:g.95130048A>G	TOPMed
BMPR1B	O00238	p.Gly260Asp	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Gly260Val	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Phe261Tyr	rs375308110	missense variant	-	NC_000004.12:g.95131218T>A	ESP,ExAC
BMPR1B	O00238	p.Ile262Val	rs761965542	missense variant	-	NC_000004.12:g.95131220A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Ser	rs767750336	missense variant	-	NC_000004.12:g.95131226G>T	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Thr	rs767750336	missense variant	-	NC_000004.12:g.95131226G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ile266Val	rs1267095165	missense variant	-	NC_000004.12:g.95131232A>G	gnomAD
BMPR1B	O00238	p.Gly268Glu	COSM3607143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95131239G>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.Gly270Glu	rs750357066	missense variant	-	NC_000004.12:g.95131245G>A	ExAC,gnomAD
BMPR1B	O00238	p.Gln274Glu	rs1183108551	missense variant	-	NC_000004.12:g.95131256C>G	gnomAD
BMPR1B	O00238	p.Gln274His	rs1414676286	missense variant	-	NC_000004.12:g.95131258G>C	gnomAD
BMPR1B	O00238	p.Leu277Val	rs755942515	missense variant	-	NC_000004.12:g.95131265C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr279Ile	rs147336783	missense variant	-	NC_000004.12:g.95131272C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr279Ala	COSM4939291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95131271A>G	NCI-TCGA Cosmic
BMPR1B	O00238	p.Thr279Ile	rs147336783	missense variant	-	NC_000004.12:g.95131272C>T	NCI-TCGA,NCI-TCGA Cosmic
BMPR1B	O00238	p.Asp280Asn	rs551370449	missense variant	-	NC_000004.12:g.95131274G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp280Glu	rs1401526219	missense variant	-	NC_000004.12:g.95131276C>G	gnomAD
BMPR1B	O00238	p.Tyr281Cys	rs1395395990	missense variant	-	NC_000004.12:g.95131278A>G	TOPMed,gnomAD
BMPR1B	O00238	p.His282Tyr	rs556937566	missense variant	-	NC_000004.12:g.95131280C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His282Gln	rs371779248	missense variant	-	NC_000004.12:g.95131282T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly285Asp	rs1226334806	missense variant	-	NC_000004.12:g.95131290G>A	gnomAD
BMPR1B	O00238	p.Leu287Val	rs1478767431	missense variant	-	NC_000004.12:g.95131295C>G	TOPMed
BMPR1B	O00238	p.Tyr288Asn	rs746544755	missense variant	-	NC_000004.12:g.95131298T>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr288His	rs746544755	missense variant	-	NC_000004.12:g.95131298T>C	ExAC,gnomAD
BMPR1B	O00238	p.Tyr290His	rs770135176	missense variant	-	NC_000004.12:g.95131304T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys292Arg	rs1001539320	missense variant	-	NC_000004.12:g.95131311A>G	gnomAD
BMPR1B	O00238	p.Lys292Asn	rs1180765631	missense variant	-	NC_000004.12:g.95131312G>T	TOPMed
BMPR1B	O00238	p.Ser293Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95131313T>C	NCI-TCGA
BMPR1B	O00238	p.Ser293Cys	rs1206508270	missense variant	-	NC_000004.12:g.95131314C>G	gnomAD
BMPR1B	O00238	p.Thr294Ser	rs1471841789	missense variant	-	NC_000004.12:g.95131317C>G	gnomAD
BMPR1B	O00238	p.Thr295Ile	rs1481774294	missense variant	-	NC_000004.12:g.95131320C>T	TOPMed
BMPR1B	O00238	p.Asp297His	rs1205132180	missense variant	-	NC_000004.12:g.95131325G>C	TOPMed
BMPR1B	O00238	p.Asp297Gly	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>G	gnomAD
BMPR1B	O00238	p.Asp297Glu	rs112111860	missense variant	-	NC_000004.12:g.95131327C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp297Ala	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>C	gnomAD
BMPR1B	O00238	p.Asp297Asn	COSM21140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95131325G>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.Asp297Asn	VAR_041404	Missense	-	-	UniProt
BMPR1B	O00238	p.Ala298Thr	rs373000965	missense variant	-	NC_000004.12:g.95131328G>A	NCI-TCGA
BMPR1B	O00238	p.Ala298Thr	rs373000965	missense variant	-	NC_000004.12:g.95131328G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Arg	rs773095683	missense variant	-	NC_000004.12:g.95131332A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Glu	rs762320529	missense variant	-	NC_000004.12:g.95131331A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Gln	rs762320529	missense variant	-	NC_000004.12:g.95131331A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Asn	rs760837301	missense variant	-	NC_000004.12:g.95131333A>C	ExAC,gnomAD
BMPR1B	O00238	p.Met301Val	rs199613098	missense variant	-	NC_000004.12:g.95131337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met301Ile	rs753862322	missense variant	-	NC_000004.12:g.95131339G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys303Gln	rs370428276	missense variant	-	NC_000004.12:g.95131343A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala305Thr	rs765766633	missense variant	-	NC_000004.12:g.95131349G>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr306Cys	rs1228462504	missense variant	-	NC_000004.12:g.95131353A>G	gnomAD
BMPR1B	O00238	p.Val309Ile	rs757988979	missense variant	-	NC_000004.12:g.95131361G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ser310Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95131364A>C	NCI-TCGA
BMPR1B	O00238	p.Ser310Gly	rs777487568	missense variant	-	NC_000004.12:g.95131364A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu315Ser	COSM271130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95131380T>C	NCI-TCGA Cosmic
BMPR1B	O00238	p.Thr317Ile	rs1358949370	missense variant	-	NC_000004.12:g.95131386C>T	TOPMed
BMPR1B	O00238	p.Glu318Gln	rs750995828	missense variant	-	NC_000004.12:g.95131388G>C	ExAC,gnomAD
BMPR1B	O00238	p.Phe320Ser	rs756816303	missense variant	-	NC_000004.12:g.95131395T>C	ExAC,gnomAD
BMPR1B	O00238	p.Ser321Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95131397A>C	NCI-TCGA
BMPR1B	O00238	p.Thr322Ile	rs1332563913	missense variant	-	NC_000004.12:g.95131401C>T	TOPMed
BMPR1B	O00238	p.Lys325Asn	rs869025614	missense variant	-	NC_000004.12:g.95131411A>C	-
BMPR1B	O00238	p.Lys325Asn	RCV000208782	missense variant	Brachydactyly, type a1, d (BDA1D)	NC_000004.12:g.95131411A>C	ClinVar
BMPR1B	O00238	p.Pro326Leu	COSM4126809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95131413C>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Ala327Thr	rs141032424	missense variant	-	NC_000004.12:g.95131415G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala327Ser	rs141032424	missense variant	-	NC_000004.12:g.95131415G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala327Val	rs1157918508	missense variant	-	NC_000004.12:g.95131416C>T	TOPMed
BMPR1B	O00238	p.Ile328Val	rs1170531805	missense variant	-	NC_000004.12:g.95131418A>G	gnomAD
BMPR1B	O00238	p.Ala329Val	rs1471363374	missense variant	-	NC_000004.12:g.95131422C>T	TOPMed
BMPR1B	O00238	p.Ala329Val	rs1471363374	missense variant	-	NC_000004.12:g.95131422C>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.His330Tyr	rs1177728492	missense variant	-	NC_000004.12:g.95131424C>T	TOPMed
BMPR1B	O00238	p.Arg331Gln	rs1427765668	missense variant	-	NC_000004.12:g.95131428G>A	gnomAD
BMPR1B	O00238	p.Arg331Gln	rs1427765668	missense variant	-	NC_000004.12:g.95131428G>A	NCI-TCGA
BMPR1B	O00238	p.Arg331Gly	rs376126706	missense variant	-	NC_000004.12:g.95131427C>G	ESP,ExAC,gnomAD
BMPR1B	O00238	p.Asp332Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95131430G>A	NCI-TCGA
BMPR1B	O00238	p.Leu333Val	rs978472184	missense variant	-	NC_000004.12:g.95131433C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Val	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Leu	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Leu339Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95131451C>G	NCI-TCGA
BMPR1B	O00238	p.Val340Met	rs779359224	missense variant	-	NC_000004.12:g.95131454G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys341Met	rs1438345481	missense variant	-	NC_000004.12:g.95131458A>T	gnomAD
BMPR1B	O00238	p.Lys342Glu	rs748524936	missense variant	-	NC_000004.12:g.95131460A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys342Ile	COSM1059077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95131461A>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Lys342Gln	rs748524936	missense variant	-	NC_000004.12:g.95131460A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn343Asp	rs1264056613	missense variant	-	NC_000004.12:g.95131463A>G	TOPMed
BMPR1B	O00238	p.Thr345Ser	rs773503299	missense variant	-	NC_000004.12:g.95131470C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile348Val	rs1339367828	missense variant	-	NC_000004.12:g.95131478A>G	gnomAD
BMPR1B	O00238	p.Leu351Met	COSM1059079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95131487C>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.Val355Leu	rs1224854340	missense variant	-	NC_000004.12:g.95131499G>C	TOPMed
BMPR1B	O00238	p.Lys356Thr	rs1282921509	missense variant	-	NC_000004.12:g.95131503A>C	TOPMed
BMPR1B	O00238	p.Phe357Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95131507T>A	NCI-TCGA
BMPR1B	O00238	p.Phe357Cys	rs528180688	missense variant	-	NC_000004.12:g.95131506T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ile358Val	rs1454953723	missense variant	-	NC_000004.12:g.95131508A>G	TOPMed
BMPR1B	O00238	p.Ser359Gly	rs201289177	missense variant	-	NC_000004.12:g.95131511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp360Gly	rs763992306	missense variant	-	NC_000004.12:g.95148750A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr361Lys	rs1416896677	missense variant	-	NC_000004.12:g.95148753C>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr361Ala	rs1179983257	missense variant	-	NC_000004.12:g.95148752A>G	gnomAD
BMPR1B	O00238	p.Glu363Ter	COSM274145	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.95148758G>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Val364Phe	rs1416959162	missense variant	-	NC_000004.12:g.95148761G>T	gnomAD
BMPR1B	O00238	p.Val364Ala	rs773874757	missense variant	-	NC_000004.12:g.95148762T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val364Phe	rs1416959162	missense variant	-	NC_000004.12:g.95148761G>T	NCI-TCGA
BMPR1B	O00238	p.Asp365Asn	rs761588488	missense variant	-	NC_000004.12:g.95148764G>A	ExAC,gnomAD
BMPR1B	O00238	p.Asp365Val	rs1385960904	missense variant	-	NC_000004.12:g.95148765A>T	gnomAD
BMPR1B	O00238	p.Asp365Glu	rs1456285512	missense variant	-	NC_000004.12:g.95148766C>A	gnomAD
BMPR1B	O00238	p.Ile366Arg	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile366Val	rs767077000	missense variant	-	NC_000004.12:g.95148767A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile366Thr	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Ser	rs148550671	missense variant	-	NC_000004.12:g.95148770C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Arg	rs1284054241	missense variant	-	NC_000004.12:g.95148771C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Thr	rs148550671	missense variant	-	NC_000004.12:g.95148770C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Arg	rs1286747826	missense variant	-	NC_000004.12:g.95148774C>G	gnomAD
BMPR1B	O00238	p.Pro368Ser	rs577188671	missense variant	-	NC_000004.12:g.95148773C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Ser	RCV000379873	missense variant	Brachydactyly	NC_000004.12:g.95148773C>T	ClinVar
BMPR1B	O00238	p.Asn369Ser	rs747347346	missense variant	-	NC_000004.12:g.95148777A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn369Asp	rs778257341	missense variant	-	NC_000004.12:g.95148776A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn369Asp	RCV000283012	missense variant	Brachydactyly	NC_000004.12:g.95148776A>G	ClinVar
BMPR1B	O00238	p.Thr370Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95148780C>A	NCI-TCGA
BMPR1B	O00238	p.Thr370Ile	rs781424907	missense variant	-	NC_000004.12:g.95148780C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr370Ser	rs757434006	missense variant	-	NC_000004.12:g.95148779A>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg371Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.95148782C>T	NCI-TCGA
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg371Gln	VAR_041405	missense variant	-	NC_000004.12:g.95148783G>A	UniProt
BMPR1B	O00238	p.Arg371Gln	RCV000685866	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95148783G>A	ClinVar
BMPR1B	O00238	p.Arg371Pro	rs34970181	missense variant	-	NC_000004.12:g.95148783G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Leu	rs34970181	missense variant	-	NC_000004.12:g.95148783G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Leu	RCV000340460	missense variant	Brachydactyly	NC_000004.12:g.95148783G>T	ClinVar
BMPR1B	O00238	p.Arg376Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95148797C>A	NCI-TCGA
BMPR1B	O00238	p.Arg376Cys	rs768328319	missense variant	-	NC_000004.12:g.95148797C>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg376Cys	rs768328319	missense variant	-	NC_000004.12:g.95148797C>T	NCI-TCGA,NCI-TCGA Cosmic
BMPR1B	O00238	p.Tyr377Cys	rs559805218	missense variant	-	NC_000004.12:g.95148801A>G	1000Genomes
BMPR1B	O00238	p.Met378Arg	rs1292399504	missense variant	-	NC_000004.12:g.95148804T>G	TOPMed
BMPR1B	O00238	p.Asp384Gly	COSM256407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95148822A>G	NCI-TCGA Cosmic
BMPR1B	O00238	p.Ser386Thr	rs1204148833	missense variant	-	NC_000004.12:g.95148828G>C	gnomAD
BMPR1B	O00238	p.Leu387Phe	rs1426672160	missense variant	-	NC_000004.12:g.95148832G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg389Gly	rs760241910	missense variant	-	NC_000004.12:g.95148836A>G	ExAC,gnomAD
BMPR1B	O00238	p.Arg389Ile	COSM274147	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95148837G>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Asn390Ser	rs766046737	missense variant	-	NC_000004.12:g.95148840A>G	ExAC,gnomAD
BMPR1B	O00238	p.His391Pro	rs943183996	missense variant	-	NC_000004.12:g.95148843A>C	gnomAD
BMPR1B	O00238	p.His391Arg	rs943183996	missense variant	-	NC_000004.12:g.95148843A>G	gnomAD
BMPR1B	O00238	p.Phe392Leu	rs1412113319	missense variant	-	NC_000004.12:g.95148847C>G	gnomAD
BMPR1B	O00238	p.Phe392Val	rs1464900722	missense variant	-	NC_000004.12:g.95148845T>G	TOPMed
BMPR1B	O00238	p.Phe392Val	rs1464900722	missense variant	-	NC_000004.12:g.95148845T>G	NCI-TCGA Cosmic
BMPR1B	O00238	p.Phe392Ser	rs753253207	missense variant	-	NC_000004.12:g.95148846T>C	ExAC,gnomAD
BMPR1B	O00238	p.Gln393His	rs758874215	missense variant	-	NC_000004.12:g.95148850G>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr395Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95148854T>G	NCI-TCGA
BMPR1B	O00238	p.Tyr395Ser	rs1350190350	missense variant	-	NC_000004.12:g.95148855A>C	gnomAD
BMPR1B	O00238	p.Met397Val	rs548452438	missense variant	-	NC_000004.12:g.95148860A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ala398Thr	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ala398Ser	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Asp399Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95148868C>A	NCI-TCGA
BMPR1B	O00238	p.Met400Ile	rs1279570525	missense variant	-	NC_000004.12:g.95148871G>A	gnomAD
BMPR1B	O00238	p.Met400Val	rs757593146	missense variant	-	NC_000004.12:g.95148869A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ser402Gly	COSM1059081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95148875A>G	NCI-TCGA Cosmic
BMPR1B	O00238	p.Phe403Val	rs1207154351	missense variant	-	NC_000004.12:g.95148878T>G	gnomAD
BMPR1B	O00238	p.Gly404Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95148881G>A	NCI-TCGA
BMPR1B	O00238	p.Leu407Ile	COSM5179134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95148890C>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.Val410Phe	rs746134819	missense variant	-	NC_000004.12:g.95148899G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val410Leu	rs746134819	missense variant	-	NC_000004.12:g.95148899G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala411Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95148903C>A	NCI-TCGA
BMPR1B	O00238	p.Ala411Thr	rs969503674	missense variant	-	NC_000004.12:g.95148902G>A	TOPMed
BMPR1B	O00238	p.Ala411Thr	rs969503674	missense variant	-	NC_000004.12:g.95148902G>A	NCI-TCGA
BMPR1B	O00238	p.Arg412Lys	rs561948192	missense variant	-	NC_000004.12:g.95148906G>A	1000Genomes,TOPMed
BMPR1B	O00238	p.Arg412Gly	rs1190618723	missense variant	-	NC_000004.12:g.95148905A>G	TOPMed
BMPR1B	O00238	p.Arg413Thr	rs780171269	missense variant	-	NC_000004.12:g.95148909G>C	ExAC,gnomAD
BMPR1B	O00238	p.Arg413Ser	rs186299744	missense variant	-	NC_000004.12:g.95148910A>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Cys414Arg	rs980823830	missense variant	-	NC_000004.12:g.95148911T>C	TOPMed
BMPR1B	O00238	p.Cys414Tyr	rs1476786316	missense variant	-	NC_000004.12:g.95148912G>A	gnomAD
BMPR1B	O00238	p.Ser416Ter	COSM462104	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.95148918C>G	NCI-TCGA Cosmic
BMPR1B	O00238	p.Gly418Asp	rs1248109194	missense variant	-	NC_000004.12:g.95152643G>A	gnomAD
BMPR1B	O00238	p.Ile419Thr	rs1450785068	missense variant	-	NC_000004.12:g.95152646T>C	gnomAD
BMPR1B	O00238	p.Ile419Met	COSM1059083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95152647A>G	NCI-TCGA Cosmic
BMPR1B	O00238	p.Val420Ala	rs1249589876	missense variant	-	NC_000004.12:g.95152649T>C	TOPMed
BMPR1B	O00238	p.His428Gln	rs1313808319	missense variant	-	NC_000004.12:g.95152674T>A	gnomAD
BMPR1B	O00238	p.His428Asp	rs1447783996	missense variant	-	NC_000004.12:g.95152672C>G	TOPMed
BMPR1B	O00238	p.Leu430Val	rs1208101811	missense variant	-	NC_000004.12:g.95152678C>G	TOPMed
BMPR1B	O00238	p.Pro432Leu	rs1458772834	missense variant	-	NC_000004.12:g.95152685C>T	gnomAD
BMPR1B	O00238	p.Ser433Asn	rs1165392388	missense variant	-	NC_000004.12:g.95152688G>A	gnomAD
BMPR1B	O00238	p.Pro435Leu	rs985981901	missense variant	-	NC_000004.12:g.95152694C>T	TOPMed
BMPR1B	O00238	p.Ser436Cys	COSM4820136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95152697C>G	NCI-TCGA Cosmic
BMPR1B	O00238	p.Tyr437His	COSM3918378	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95152699T>C	NCI-TCGA Cosmic
BMPR1B	O00238	p.Met440Val	rs376221874	missense variant	-	NC_000004.12:g.95152708A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met440Leu	rs376221874	missense variant	-	NC_000004.12:g.95152708A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Lys	rs879008149	missense variant	-	NC_000004.12:g.95152712G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Thr	rs879008149	missense variant	-	NC_000004.12:g.95152712G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Thr	rs752045710	missense variant	-	NC_000004.12:g.95152718T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Met	rs1432975995	missense variant	-	NC_000004.12:g.95152719T>G	gnomAD
BMPR1B	O00238	p.Ile446Leu	rs1325757207	missense variant	-	NC_000004.12:g.95152726A>C	gnomAD
BMPR1B	O00238	p.Lys447Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95152731G>T	NCI-TCGA
BMPR1B	O00238	p.Lys447Arg	rs371436999	missense variant	-	NC_000004.12:g.95152730A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro451Ser	rs1321058552	missense variant	-	NC_000004.12:g.95152741C>T	TOPMed
BMPR1B	O00238	p.Asn455His	rs756258100	missense variant	-	NC_000004.12:g.95152753A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Pro	rs140047318	missense variant	-	NC_000004.12:g.95152757G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Leu	rs140047318	missense variant	-	NC_000004.12:g.95152757G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gly	rs780280883	missense variant	-	NC_000004.12:g.95152756C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Trp	rs780280883	missense variant	-	NC_000004.12:g.95152756C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gln	rs140047318	missense variant	-	NC_000004.12:g.95152757G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser458Asn	rs1260383981	missense variant	-	NC_000004.12:g.95152763G>A	gnomAD
BMPR1B	O00238	p.Ser459Gly	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>G	gnomAD
BMPR1B	O00238	p.Ser459Arg	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>C	gnomAD
BMPR1B	O00238	p.Ser459Asn	rs1190153129	missense variant	-	NC_000004.12:g.95152766G>A	gnomAD
BMPR1B	O00238	p.Glu461Lys	rs1367092167	missense variant	-	NC_000004.12:g.95152771G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Cys462Phe	rs766596192	missense variant	-	NC_000004.12:g.95154549G>T	ExAC,gnomAD
BMPR1B	O00238	p.Cys462Tyr	rs766596192	missense variant	-	NC_000004.12:g.95154549G>A	ExAC,gnomAD
BMPR1B	O00238	p.Arg464Ser	rs1308433194	missense variant	-	NC_000004.12:g.95154556G>T	gnomAD
BMPR1B	O00238	p.Gln465Arg	rs369609245	missense variant	-	NC_000004.12:g.95154558A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met466Leu	rs778929099	missense variant	-	NC_000004.12:g.95154560A>T	ExAC,gnomAD
BMPR1B	O00238	p.Gly467Ala	rs1305848208	missense variant	-	NC_000004.12:g.95154564G>C	gnomAD
BMPR1B	O00238	p.Lys468Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95154568A>C	NCI-TCGA
BMPR1B	O00238	p.Leu469Ile	COSM6101133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95154569C>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.Met470Thr	rs1234757133	missense variant	-	NC_000004.12:g.95154573T>C	gnomAD
BMPR1B	O00238	p.Thr471Ala	rs752827445	missense variant	-	NC_000004.12:g.95154575A>G	ExAC,gnomAD
BMPR1B	O00238	p.Trp474Cys	COSM1671148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95154586G>T	NCI-TCGA Cosmic
BMPR1B	O00238	p.Ala479Ser	rs746760963	missense variant	-	NC_000004.12:g.95154599G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala479Val	rs1241726567	missense variant	-	NC_000004.12:g.95154600C>T	TOPMed
BMPR1B	O00238	p.Ala479Thr	rs746760963	missense variant	-	NC_000004.12:g.95154599G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr483Ala	rs1435017955	missense variant	-	NC_000004.12:g.95154611A>G	gnomAD
BMPR1B	O00238	p.Thr483Ile	rs1057521819	missense variant	-	NC_000004.12:g.95154612C>T	-
BMPR1B	O00238	p.Thr483Ile	RCV000444497	missense variant	-	NC_000004.12:g.95154612C>T	ClinVar
BMPR1B	O00238	p.Ala484Ser	rs769339843	missense variant	-	NC_000004.12:g.95154614G>T	ExAC,gnomAD
BMPR1B	O00238	p.Ala484Val	rs1394503432	missense variant	-	NC_000004.12:g.95154615C>T	gnomAD
BMPR1B	O00238	p.Ala484Thr	COSM5759298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95154614G>A	NCI-TCGA Cosmic
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	-	NC_000004.12:g.95154621G>A	-
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Gln	VAR_037967	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Trp	VAR_023820	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	-	NC_000004.12:g.95154620C>T	-
BMPR1B	O00238	p.Arg486Gln	RCV000006936	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154621G>A	ClinVar
BMPR1B	O00238	p.Arg486Trp	RCV000006934	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154620C>T	ClinVar
BMPR1B	O00238	p.Val487Ile	rs369899177	missense variant	-	NC_000004.12:g.95154623G>A	ESP
BMPR1B	O00238	p.Lys488Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95154628G>T	NCI-TCGA
BMPR1B	O00238	p.Lys488Arg	COSM4126816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95154627A>G	NCI-TCGA Cosmic
BMPR1B	O00238	p.Lys489Asn	COSM3826466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.95154631A>C	NCI-TCGA Cosmic
BMPR1B	O00238	p.Leu491Val	rs748806114	missense variant	-	NC_000004.12:g.95154635C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ser497Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95154654C>T	NCI-TCGA
BMPR1B	O00238	p.Ser497Ala	rs1460265958	missense variant	-	NC_000004.12:g.95154653T>G	gnomAD
BMPR1B	O00238	p.Gln498Arg	rs773752951	missense variant	-	NC_000004.12:g.95154657A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln498Ter	rs1297303851	stop gained	-	NC_000004.12:g.95154656C>T	gnomAD
BMPR1B	O00238	p.Asp499Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.95154660A>T	NCI-TCGA
BMPR1B	O00238	p.Ile500Val	rs1300655982	missense variant	-	NC_000004.12:g.95154662A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile500Thr	rs761009116	missense variant	-	NC_000004.12:g.95154663T>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys501Arg	rs766714132	missense variant	-	NC_000004.12:g.95154666A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Thr	rs766714132	missense variant	-	NC_000004.12:g.95154666A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Glu	rs1229797838	missense variant	-	NC_000004.12:g.95154665A>G	NCI-TCGA Cosmic
BMPR1B	O00238	p.Lys501Glu	rs1229797838	missense variant	-	NC_000004.12:g.95154665A>G	TOPMed,gnomAD
BMPR1B	O00238	p.LeuTer502LeuUnk	rs1443065466	stop lost	-	NC_000004.12:g.95154670_95154671del	TOPMed
BMPR1B	O00238	p.Arg4Gln	rs150974461	missense variant	-	NC_000004.12:g.95104435G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg4Pro	rs150974461	missense variant	-	NC_000004.12:g.95104435G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser5Arg	rs1466418430	missense variant	-	NC_000004.12:g.95104439T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ala6Thr	rs143885868	missense variant	-	NC_000004.12:g.95104440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly7Arg	rs1279515650	missense variant	-	NC_000004.12:g.95104443G>A	TOPMed
BMPR1B	O00238	p.Thr13Ile	rs1374698890	missense variant	-	NC_000004.12:g.95104462C>T	TOPMed
BMPR1B	O00238	p.Lys14Gln	rs763496728	missense variant	-	NC_000004.12:g.95104464A>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys15Glu	rs1346115955	missense variant	-	NC_000004.12:g.95104467A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Glu19Asp	rs773850751	missense variant	-	NC_000004.12:g.95104481G>C	ExAC,gnomAD
BMPR1B	O00238	p.Ser20Gly	rs1281247073	missense variant	-	NC_000004.12:g.95104482A>G	gnomAD
BMPR1B	O00238	p.Thr21Ile	rs190883013	missense variant	-	NC_000004.12:g.95104486C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr24Ala	RCV000425791	missense variant	-	NC_000004.12:g.95104494A>G	ClinVar
BMPR1B	O00238	p.Thr24Ala	rs754365645	missense variant	-	NC_000004.12:g.95104494A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr24Ile	rs912115035	missense variant	-	NC_000004.12:g.95104495C>T	-
BMPR1B	O00238	p.Pro25Arg	rs145700191	missense variant	-	NC_000004.12:g.95104498C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro25His	rs145700191	missense variant	-	NC_000004.12:g.95104498C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26Cys	rs758706811	missense variant	-	NC_000004.12:g.95104500C>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg26Pro	rs377000102	missense variant	-	NC_000004.12:g.95104501G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26His	rs377000102	missense variant	-	NC_000004.12:g.95104501G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro27Arg	RCV000625922	missense variant	Primary pulmonary hypertension 3 (PPH3)	NC_000004.12:g.95104504C>G	ClinVar
BMPR1B	O00238	p.Pro27Arg	rs757312834	missense variant	-	NC_000004.12:g.95104504C>G	ExAC,gnomAD
BMPR1B	O00238	p.Val29Phe	rs773417270	missense variant	-	NC_000004.12:g.95104509G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31His	RCV000263624	missense variant	Brachydactyly	NC_000004.12:g.95104516G>A	ClinVar
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg31His	VAR_041401	missense variant	-	NC_000004.12:g.95104516G>A	UniProt
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Ser	rs745854387	missense variant	-	NC_000004.12:g.95104515C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	-	NC_000004.12:g.95104515C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg31Cys	VAR_075520	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt
BMPR1B	O00238	p.Arg31Cys	RCV000201128	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	ClinVar
BMPR1B	O00238	p.His37Tyr	rs1409575151	missense variant	-	NC_000004.12:g.95104533C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Glu40Gly	rs1381581400	missense variant	-	NC_000004.12:g.95104543A>G	TOPMed
BMPR1B	O00238	p.Asp41Tyr	rs775495653	missense variant	-	NC_000004.12:g.95104545G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn45Tyr	rs749047942	missense variant	-	NC_000004.12:g.95104557A>T	ExAC,gnomAD
BMPR1B	O00238	p.Asn45Asp	rs749047942	missense variant	-	NC_000004.12:g.95104557A>G	ExAC,gnomAD
BMPR1B	O00238	p.Gly51Val	rs1245250823	missense variant	-	NC_000004.12:g.95114728G>T	gnomAD
BMPR1B	O00238	p.Cys53Arg	RCV000201167	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95114733T>C	ClinVar
BMPR1B	O00238	p.Cys53Arg	rs863225041	missense variant	-	NC_000004.12:g.95114733T>C	-
BMPR1B	O00238	p.Thr55Met	rs1033648877	missense variant	-	NC_000004.12:g.95114740C>T	gnomAD
BMPR1B	O00238	p.Met56Thr	rs1191790811	missense variant	-	NC_000004.12:g.95114743T>C	TOPMed
BMPR1B	O00238	p.Ile57Val	rs1470243376	missense variant	-	NC_000004.12:g.95114745A>G	TOPMed
BMPR1B	O00238	p.Ile57Thr	rs1364478234	missense variant	-	NC_000004.12:g.95114746T>C	gnomAD
BMPR1B	O00238	p.Asp61Ala	rs1553939371	missense variant	-	NC_000004.12:g.95114758A>C	-
BMPR1B	O00238	p.Asp61Ala	RCV000596072	missense variant	-	NC_000004.12:g.95114758A>C	ClinVar
BMPR1B	O00238	p.Val66Met	rs1176860852	missense variant	-	NC_000004.12:g.95114772G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ser77Ala	rs200702974	missense variant	-	NC_000004.12:g.95114805T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83His	rs369807264	missense variant	-	NC_000004.12:g.95115685G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Tyr	rs369807264	missense variant	-	NC_000004.12:g.95115685G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Gly	rs140970485	missense variant	-	NC_000004.12:g.95115686A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Ala	rs140970485	missense variant	-	NC_000004.12:g.95115686A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Asn	rs369807264	missense variant	-	NC_000004.12:g.95115685G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Val	rs140970485	missense variant	-	NC_000004.12:g.95115686A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Glu	rs890305622	missense variant	-	NC_000004.12:g.95115687C>A	TOPMed
BMPR1B	O00238	p.Thr84Ser	rs192392906	missense variant	-	NC_000004.12:g.95115688A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr84Ile	rs200083866	missense variant	-	NC_000004.12:g.95115689C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr84Ala	rs192392906	missense variant	-	NC_000004.12:g.95115688A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Pro85Ser	rs762270033	missense variant	-	NC_000004.12:g.95115691C>T	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Arg	rs767805662	missense variant	-	NC_000004.12:g.95115692C>G	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Leu	rs767805662	missense variant	-	NC_000004.12:g.95115692C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile86Phe	rs1200081382	missense variant	-	NC_000004.12:g.95115694A>T	gnomAD
BMPR1B	O00238	p.Gln89His	rs558142045	missense variant	-	NC_000004.12:g.95115705A>T	1000Genomes
BMPR1B	O00238	p.Arg90Lys	rs1486216727	missense variant	-	NC_000004.12:g.95115707G>A	gnomAD
BMPR1B	O00238	p.Arg91Ile	rs376183647	missense variant	-	NC_000004.12:g.95115710G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu94Ala	rs139161475	missense variant	-	NC_000004.12:g.95115719A>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu94Lys	rs200886063	missense variant	-	NC_000004.12:g.95115718G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu94Val	rs139161475	missense variant	-	NC_000004.12:g.95115719A>T	ExAC,gnomAD
BMPR1B	O00238	p.Thr97Ala	RCV000304200	missense variant	-	NC_000004.12:g.95115727A>G	ClinVar
BMPR1B	O00238	p.Thr97Arg	rs151289886	missense variant	-	NC_000004.12:g.95115728C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Lys	rs151289886	missense variant	-	NC_000004.12:g.95115728C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ser	rs759423600	missense variant	-	NC_000004.12:g.95115727A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ile	rs151289886	missense variant	-	NC_000004.12:g.95115728C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ala	rs759423600	missense variant	-	NC_000004.12:g.95115727A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His107Leu	rs746713318	missense variant	-	NC_000004.12:g.95115758A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr109Ile	rs1386616728	missense variant	-	NC_000004.12:g.95115764C>T	gnomAD
BMPR1B	O00238	p.Pro112Ser	rs1225550138	missense variant	-	NC_000004.12:g.95115772C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Asp117Asn	rs571763786	missense variant	-	NC_000004.12:g.95115787G>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Phe118Leu	rs1185014709	missense variant	-	NC_000004.12:g.95123812T>C	gnomAD
BMPR1B	O00238	p.Val119Gly	rs541202129	missense variant	-	NC_000004.12:g.95123816T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Asp120Asn	rs1422671894	missense variant	-	NC_000004.12:g.95123818G>A	gnomAD
BMPR1B	O00238	p.Gly121Ter	RCV000006935	frameshift	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95123821_95123828del	ClinVar
BMPR1B	O00238	p.His124Arg	rs1397484175	missense variant	-	NC_000004.12:g.95123831A>G	TOPMed
BMPR1B	O00238	p.His124Tyr	rs759803347	missense variant	-	NC_000004.12:g.95123830C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg126Lys	rs1366056747	missense variant	-	NC_000004.12:g.95123837G>A	gnomAD
BMPR1B	O00238	p.Leu129Phe	rs755669488	missense variant	-	NC_000004.12:g.95123845C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ser131Thr	rs561117066	missense variant	-	NC_000004.12:g.95123851T>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Val132Leu	rs931491708	missense variant	-	NC_000004.12:g.95123854G>T	TOPMed
BMPR1B	O00238	p.Val132Gly	rs150002205	missense variant	-	NC_000004.12:g.95123855T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr133Pro	rs772559135	missense variant	-	NC_000004.12:g.95123857A>C	ExAC
BMPR1B	O00238	p.Val134Ile	rs747412096	missense variant	-	NC_000004.12:g.95123860G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val134Ala	rs1392029669	missense variant	-	NC_000004.12:g.95123861T>C	gnomAD
BMPR1B	O00238	p.Cys135Gly	rs145201971	missense variant	-	NC_000004.12:g.95123863T>G	ESP,ExAC,TOPMed
BMPR1B	O00238	p.Leu139Met	rs1324227207	missense variant	-	NC_000004.12:g.95123875T>A	TOPMed,gnomAD
BMPR1B	O00238	p.Leu139Phe	rs1250134332	missense variant	-	NC_000004.12:g.95123877G>T	TOPMed
BMPR1B	O00238	p.Val140Ile	rs138801821	missense variant	-	NC_000004.12:g.95123878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	RCV000202696	missense variant	-	NC_000004.12:g.95123878G>A	ClinVar
BMPR1B	O00238	p.Leu141Val	rs1346621381	missense variant	-	NC_000004.12:g.95123881C>G	gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg149Trp	RCV000333918	missense variant	Brachydactyly	NC_000004.12:g.95123905C>T	ClinVar
BMPR1B	O00238	p.Arg149Trp	rs34231464	missense variant	-	NC_000004.12:g.95123905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln153Arg	rs1197682678	missense variant	-	NC_000004.12:g.95124994A>G	gnomAD
BMPR1B	O00238	p.Glu154Lys	rs1172006396	missense variant	-	NC_000004.12:g.95124996G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr155Asn	rs140360809	missense variant	-	NC_000004.12:g.95125000C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg156Thr	rs769863111	missense variant	-	NC_000004.12:g.95125003G>C	ExAC,gnomAD
BMPR1B	O00238	p.Pro157Ser	rs779609471	missense variant	-	NC_000004.12:g.95125005C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro157Thr	rs779609471	missense variant	-	NC_000004.12:g.95125005C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro157Ser	RCV000424734	missense variant	-	NC_000004.12:g.95125005C>T	ClinVar
BMPR1B	O00238	p.Arg158Gln	rs761486688	missense variant	-	NC_000004.12:g.95125009G>A	ExAC,gnomAD
BMPR1B	O00238	p.Arg158Gly	rs774364369	missense variant	-	NC_000004.12:g.95125008C>G	ExAC,gnomAD
BMPR1B	O00238	p.Tyr159Asp	rs1366100450	missense variant	-	NC_000004.12:g.95125011T>G	gnomAD
BMPR1B	O00238	p.Ser160Asn	rs149589961	missense variant	-	NC_000004.12:g.95125015G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser160Cys	rs750037039	missense variant	-	NC_000004.12:g.95125014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile161Ser	rs766140919	missense variant	-	NC_000004.12:g.95125018T>G	ExAC,gnomAD
BMPR1B	O00238	p.Leu163Ile	rs1438025940	missense variant	-	NC_000004.12:g.95125023T>A	TOPMed
BMPR1B	O00238	p.Glu164Lys	rs754565613	missense variant	-	NC_000004.12:g.95125026G>A	ExAC,gnomAD
BMPR1B	O00238	p.Glu164Gln	rs754565613	missense variant	-	NC_000004.12:g.95125026G>C	ExAC,gnomAD
BMPR1B	O00238	p.Asp166Ala	rs781670372	missense variant	-	NC_000004.12:g.95125033A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Asn	rs752156962	missense variant	-	NC_000004.12:g.95125032G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166His	rs752156962	missense variant	-	NC_000004.12:g.95125032G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Val	rs781670372	missense variant	-	NC_000004.12:g.95125033A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu167Ala	rs1490974342	missense variant	-	NC_000004.12:g.95125036A>C	gnomAD
BMPR1B	O00238	p.Thr168Ser	rs373998952	missense variant	-	NC_000004.12:g.95125039C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Tyr169Ser	rs769948288	missense variant	-	NC_000004.12:g.95125042A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Val	rs778170724	missense variant	-	NC_000004.12:g.95125044A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Ser	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Thr	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Met	rs768768926	missense variant	-	NC_000004.12:g.95125046T>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile170Phe	rs778170724	missense variant	-	NC_000004.12:g.95125044A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Phe	rs367777041	missense variant	-	NC_000004.12:g.95125060C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Ala	rs143554488	missense variant	-	NC_000004.12:g.95125059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Pro	rs143554488	missense variant	-	NC_000004.12:g.95125059T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Cys	rs367777041	missense variant	-	NC_000004.12:g.95125060C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu176Val	rs1337920731	missense variant	-	NC_000004.12:g.95125062C>G	TOPMed
BMPR1B	O00238	p.Leu176Pro	rs771747962	missense variant	-	NC_000004.12:g.95125063T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg177Gly	rs773000162	missense variant	-	NC_000004.12:g.95125065A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp178Asn	rs1442468616	missense variant	-	NC_000004.12:g.95125068G>A	gnomAD
BMPR1B	O00238	p.Leu179Ser	rs911866039	missense variant	-	NC_000004.12:g.95125072T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Leu179Phe	rs766089514	missense variant	-	NC_000004.12:g.95125073A>C	ExAC,gnomAD
BMPR1B	O00238	p.Ile180Asn	rs776445882	missense variant	-	NC_000004.12:g.95125075T>A	ExAC
BMPR1B	O00238	p.Ile180Thr	rs776445882	missense variant	-	NC_000004.12:g.95125075T>C	ExAC
BMPR1B	O00238	p.Gln182Arg	rs1384205404	missense variant	-	NC_000004.12:g.95125081A>G	TOPMed
BMPR1B	O00238	p.Gln182His	rs1362547455	missense variant	-	NC_000004.12:g.95125082G>T	gnomAD
BMPR1B	O00238	p.Ser183Thr	rs141691706	missense variant	-	NC_000004.12:g.95125083T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser183Pro	RCV000664165	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000004.12:g.95125083T>C	ClinVar
BMPR1B	O00238	p.Ser183Pro	rs141691706	missense variant	-	NC_000004.12:g.95125083T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly187Ala	rs200839585	missense variant	-	NC_000004.12:g.95125096G>C	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Leu194Val	rs757843329	missense variant	-	NC_000004.12:g.95125116C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Arg	rs767925715	missense variant	-	NC_000004.12:g.95125117T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Pro	rs767925715	missense variant	-	NC_000004.12:g.95125117T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Gln	rs767925715	missense variant	-	NC_000004.12:g.95125117T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt,dbSNP
BMPR1B	O00238	p.Ile200Lys	VAR_023819	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	-	NC_000004.12:g.95129875T>A	-
BMPR1B	O00238	p.Ile200Lys	RCV000006933	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129875T>A	ClinVar
BMPR1B	O00238	p.Ile200Val	rs750954022	missense variant	-	NC_000004.12:g.95129874A>G	ExAC,gnomAD
BMPR1B	O00238	p.Lys202Arg	rs185062260	missense variant	-	NC_000004.12:g.95129881A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Lys202Arg	RCV000766164	missense variant	-	NC_000004.12:g.95129881A>G	ClinVar
BMPR1B	O00238	p.Gln205Glu	rs766791531	missense variant	-	NC_000004.12:g.95129889C>G	ExAC,gnomAD
BMPR1B	O00238	p.Met206Val	rs1344379581	missense variant	-	NC_000004.12:g.95129892A>G	TOPMed
BMPR1B	O00238	p.Lys208Gln	rs1260652488	missense variant	-	NC_000004.12:g.95129898A>C	gnomAD
BMPR1B	O00238	p.Gln209Glu	rs1299044974	missense variant	-	NC_000004.12:g.95129901C>G	TOPMed
BMPR1B	O00238	p.Gln209Pro	rs1176798119	missense variant	-	NC_000004.12:g.95129902A>C	gnomAD
BMPR1B	O00238	p.Ile210Val	rs754044696	missense variant	-	NC_000004.12:g.95129904A>G	ExAC,gnomAD
BMPR1B	O00238	p.Arg214Ser	rs1553941890	missense variant	-	NC_000004.12:g.95129916C>A	-
BMPR1B	O00238	p.Arg214His	rs755131943	missense variant	-	NC_000004.12:g.95129917G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg214Ser	RCV000519599	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129916C>A	ClinVar
BMPR1B	O00238	p.Gly216Ala	rs779006691	missense variant	-	NC_000004.12:g.95129923G>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu217Lys	rs748217063	missense variant	-	NC_000004.12:g.95129925G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val218Asp	rs1303785017	missense variant	-	NC_000004.12:g.95129929T>A	TOPMed
BMPR1B	O00238	p.Trp219Ter	rs863225042	stop gained	-	NC_000004.12:g.95129933G>A	-
BMPR1B	O00238	p.Trp219Ter	RCV000201044	nonsense	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95129933G>A	ClinVar
BMPR1B	O00238	p.Lys222Glu	rs758429876	missense variant	-	NC_000004.12:g.95129940A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys222Thr	rs957165736	missense variant	-	NC_000004.12:g.95129941A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Trp223Cys	rs1295971366	missense variant	-	NC_000004.12:g.95129945G>C	TOPMed
BMPR1B	O00238	p.Arg224Leu	rs35973133	missense variant	-	NC_000004.12:g.95129947G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg224His	VAR_041403	missense variant	-	NC_000004.12:g.95129947G>A	UniProt
BMPR1B	O00238	p.Arg224Cys	rs777745046	missense variant	-	NC_000004.12:g.95129946C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	RCV000386085	missense variant	Brachydactyly	NC_000004.12:g.95129947G>A	ClinVar
BMPR1B	O00238	p.Lys227Asn	rs1200045028	missense variant	-	NC_000004.12:g.95129957G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Gln	rs574398307	missense variant	-	NC_000004.12:g.95129955A>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Glu	rs574398307	missense variant	-	NC_000004.12:g.95129955A>G	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Met	rs372556235	missense variant	-	NC_000004.12:g.95129956A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val228Ile	rs745674753	missense variant	-	NC_000004.12:g.95129958G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ala229Val	rs769423606	missense variant	-	NC_000004.12:g.95129962C>T	ExAC,gnomAD
BMPR1B	O00238	p.Lys231Ter	rs1207219833	stop gained	-	NC_000004.12:g.95129967A>T	gnomAD
BMPR1B	O00238	p.Phe234Leu	rs536641256	missense variant	-	NC_000004.12:g.95129978C>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr236Ala	rs1468067202	missense variant	-	NC_000004.12:g.95129982A>G	gnomAD
BMPR1B	O00238	p.Ala239Ser	rs773700021	missense variant	-	NC_000004.12:g.95129991G>T	ExAC,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs761226009	missense variant	-	NC_000004.12:g.95130000T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Tyr	rs754133041	missense variant	-	NC_000004.12:g.95130001T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ile	rs761226009	missense variant	-	NC_000004.12:g.95130000T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Val	rs761226009	missense variant	-	NC_000004.12:g.95130000T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ser	rs754133041	missense variant	-	NC_000004.12:g.95130001T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Cys	rs754133041	missense variant	-	NC_000004.12:g.95130001T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	RCV000328112	missense variant	Brachydactyly	NC_000004.12:g.95130004G>A	ClinVar
BMPR1B	O00238	p.Arg243Ser	rs1306782325	missense variant	-	NC_000004.12:g.95130005A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	rs886059731	missense variant	-	NC_000004.12:g.95130004G>A	gnomAD
BMPR1B	O00238	p.Arg243Gly	rs755476693	missense variant	-	NC_000004.12:g.95130003A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Arg	rs751532146	missense variant	-	NC_000004.12:g.95130010C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Lys	rs751532146	missense variant	-	NC_000004.12:g.95130010C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Asp	rs748957679	missense variant	-	NC_000004.12:g.95130014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Glu246Lys	rs369168607	missense variant	-	NC_000004.12:g.95130012G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Ala	rs779737736	missense variant	-	NC_000004.12:g.95130013A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Gln	rs369168607	missense variant	-	NC_000004.12:g.95130012G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Gly	rs779737736	missense variant	-	NC_000004.12:g.95130013A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Val	rs779737736	missense variant	-	NC_000004.12:g.95130013A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile247Met	rs1270927104	missense variant	-	NC_000004.12:g.95130017A>G	gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Ter	rs142696562	stop gained	-	NC_000004.12:g.95130021C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Glu	rs142696562	missense variant	-	NC_000004.12:g.95130021C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Arg	rs187868598	missense variant	-	NC_000004.12:g.95130022A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Gln249Leu	rs187868598	missense variant	-	NC_000004.12:g.95130022A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr250Ile	rs771385869	missense variant	-	NC_000004.12:g.95130025C>T	ExAC,gnomAD
BMPR1B	O00238	p.Thr250Pro	rs1223084316	missense variant	-	NC_000004.12:g.95130024A>C	gnomAD
BMPR1B	O00238	p.Val251Gly	rs1463003460	missense variant	-	NC_000004.12:g.95130028T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Leu	rs948475886	missense variant	-	NC_000004.12:g.95130033A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Thr	rs1044164391	missense variant	-	NC_000004.12:g.95130034T>C	gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	rs200198618	missense variant	-	NC_000004.12:g.95130038G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	RCV000384921	missense variant	Brachydactyly	NC_000004.12:g.95130038G>T	ClinVar
BMPR1B	O00238	p.Asn257Asp	rs201034260	missense variant	-	NC_000004.12:g.95130045A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn257Asp	RCV000480897	missense variant	-	NC_000004.12:g.95130045A>G	ClinVar
BMPR1B	O00238	p.Ile258Val	rs1473660478	missense variant	-	NC_000004.12:g.95130048A>G	TOPMed
BMPR1B	O00238	p.Gly260Asp	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Gly260Val	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Phe261Tyr	rs375308110	missense variant	-	NC_000004.12:g.95131218T>A	ESP,ExAC
BMPR1B	O00238	p.Ile262Val	rs761965542	missense variant	-	NC_000004.12:g.95131220A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Thr	rs767750336	missense variant	-	NC_000004.12:g.95131226G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Ser	rs767750336	missense variant	-	NC_000004.12:g.95131226G>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile266Val	rs1267095165	missense variant	-	NC_000004.12:g.95131232A>G	gnomAD
BMPR1B	O00238	p.Gly270Glu	rs750357066	missense variant	-	NC_000004.12:g.95131245G>A	ExAC,gnomAD
BMPR1B	O00238	p.Gln274His	rs1414676286	missense variant	-	NC_000004.12:g.95131258G>C	gnomAD
BMPR1B	O00238	p.Gln274Glu	rs1183108551	missense variant	-	NC_000004.12:g.95131256C>G	gnomAD
BMPR1B	O00238	p.Leu277Val	rs755942515	missense variant	-	NC_000004.12:g.95131265C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr279Ile	rs147336783	missense variant	-	NC_000004.12:g.95131272C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp280Glu	rs1401526219	missense variant	-	NC_000004.12:g.95131276C>G	gnomAD
BMPR1B	O00238	p.Asp280Asn	rs551370449	missense variant	-	NC_000004.12:g.95131274G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Tyr281Cys	rs1395395990	missense variant	-	NC_000004.12:g.95131278A>G	TOPMed,gnomAD
BMPR1B	O00238	p.His282Gln	rs371779248	missense variant	-	NC_000004.12:g.95131282T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His282Tyr	rs556937566	missense variant	-	NC_000004.12:g.95131280C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly285Asp	rs1226334806	missense variant	-	NC_000004.12:g.95131290G>A	gnomAD
BMPR1B	O00238	p.Leu287Val	rs1478767431	missense variant	-	NC_000004.12:g.95131295C>G	TOPMed
BMPR1B	O00238	p.Tyr288His	rs746544755	missense variant	-	NC_000004.12:g.95131298T>C	ExAC,gnomAD
BMPR1B	O00238	p.Tyr288Asn	rs746544755	missense variant	-	NC_000004.12:g.95131298T>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr290His	rs770135176	missense variant	-	NC_000004.12:g.95131304T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys292Asn	rs1180765631	missense variant	-	NC_000004.12:g.95131312G>T	TOPMed
BMPR1B	O00238	p.Lys292Arg	rs1001539320	missense variant	-	NC_000004.12:g.95131311A>G	gnomAD
BMPR1B	O00238	p.Ser293Cys	rs1206508270	missense variant	-	NC_000004.12:g.95131314C>G	gnomAD
BMPR1B	O00238	p.Thr294Ser	rs1471841789	missense variant	-	NC_000004.12:g.95131317C>G	gnomAD
BMPR1B	O00238	p.Thr295Ile	rs1481774294	missense variant	-	NC_000004.12:g.95131320C>T	TOPMed
BMPR1B	O00238	p.Asp297His	rs1205132180	missense variant	-	NC_000004.12:g.95131325G>C	TOPMed
BMPR1B	O00238	p.Asp297Gly	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>G	gnomAD
BMPR1B	O00238	p.Asp297Glu	rs112111860	missense variant	-	NC_000004.12:g.95131327C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp297Ala	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>C	gnomAD
BMPR1B	O00238	p.Asp297Asn	VAR_041404	Missense	-	-	UniProt
BMPR1B	O00238	p.Ala298Thr	rs373000965	missense variant	-	NC_000004.12:g.95131328G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Arg	rs773095683	missense variant	-	NC_000004.12:g.95131332A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Glu	rs762320529	missense variant	-	NC_000004.12:g.95131331A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Gln	rs762320529	missense variant	-	NC_000004.12:g.95131331A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Asn	rs760837301	missense variant	-	NC_000004.12:g.95131333A>C	ExAC,gnomAD
BMPR1B	O00238	p.Met301Val	rs199613098	missense variant	-	NC_000004.12:g.95131337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met301Ile	rs753862322	missense variant	-	NC_000004.12:g.95131339G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys303Gln	rs370428276	missense variant	-	NC_000004.12:g.95131343A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala305Thr	rs765766633	missense variant	-	NC_000004.12:g.95131349G>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr306Cys	rs1228462504	missense variant	-	NC_000004.12:g.95131353A>G	gnomAD
BMPR1B	O00238	p.Val309Ile	rs757988979	missense variant	-	NC_000004.12:g.95131361G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ser310Gly	rs777487568	missense variant	-	NC_000004.12:g.95131364A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr317Ile	rs1358949370	missense variant	-	NC_000004.12:g.95131386C>T	TOPMed
BMPR1B	O00238	p.Glu318Gln	rs750995828	missense variant	-	NC_000004.12:g.95131388G>C	ExAC,gnomAD
BMPR1B	O00238	p.Phe320Ser	rs756816303	missense variant	-	NC_000004.12:g.95131395T>C	ExAC,gnomAD
BMPR1B	O00238	p.Thr322Ile	rs1332563913	missense variant	-	NC_000004.12:g.95131401C>T	TOPMed
BMPR1B	O00238	p.Lys325Asn	rs869025614	missense variant	-	NC_000004.12:g.95131411A>C	-
BMPR1B	O00238	p.Lys325Asn	RCV000208782	missense variant	Brachydactyly, type a1, d (BDA1D)	NC_000004.12:g.95131411A>C	ClinVar
BMPR1B	O00238	p.Ala327Thr	rs141032424	missense variant	-	NC_000004.12:g.95131415G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala327Val	rs1157918508	missense variant	-	NC_000004.12:g.95131416C>T	TOPMed
BMPR1B	O00238	p.Ala327Ser	rs141032424	missense variant	-	NC_000004.12:g.95131415G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile328Val	rs1170531805	missense variant	-	NC_000004.12:g.95131418A>G	gnomAD
BMPR1B	O00238	p.Ala329Val	rs1471363374	missense variant	-	NC_000004.12:g.95131422C>T	TOPMed
BMPR1B	O00238	p.His330Tyr	rs1177728492	missense variant	-	NC_000004.12:g.95131424C>T	TOPMed
BMPR1B	O00238	p.Arg331Gln	rs1427765668	missense variant	-	NC_000004.12:g.95131428G>A	gnomAD
BMPR1B	O00238	p.Arg331Gly	rs376126706	missense variant	-	NC_000004.12:g.95131427C>G	ESP,ExAC,gnomAD
BMPR1B	O00238	p.Leu333Val	rs978472184	missense variant	-	NC_000004.12:g.95131433C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Leu	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Val	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Val340Met	rs779359224	missense variant	-	NC_000004.12:g.95131454G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys341Met	rs1438345481	missense variant	-	NC_000004.12:g.95131458A>T	gnomAD
BMPR1B	O00238	p.Lys342Glu	rs748524936	missense variant	-	NC_000004.12:g.95131460A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys342Gln	rs748524936	missense variant	-	NC_000004.12:g.95131460A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn343Asp	rs1264056613	missense variant	-	NC_000004.12:g.95131463A>G	TOPMed
BMPR1B	O00238	p.Thr345Ser	rs773503299	missense variant	-	NC_000004.12:g.95131470C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile348Val	rs1339367828	missense variant	-	NC_000004.12:g.95131478A>G	gnomAD
BMPR1B	O00238	p.Val355Leu	rs1224854340	missense variant	-	NC_000004.12:g.95131499G>C	TOPMed
BMPR1B	O00238	p.Lys356Thr	rs1282921509	missense variant	-	NC_000004.12:g.95131503A>C	TOPMed
BMPR1B	O00238	p.Phe357Cys	rs528180688	missense variant	-	NC_000004.12:g.95131506T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ile358Val	rs1454953723	missense variant	-	NC_000004.12:g.95131508A>G	TOPMed
BMPR1B	O00238	p.Ser359Gly	rs201289177	missense variant	-	NC_000004.12:g.95131511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp360Gly	rs763992306	missense variant	-	NC_000004.12:g.95148750A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr361Lys	rs1416896677	missense variant	-	NC_000004.12:g.95148753C>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr361Ala	rs1179983257	missense variant	-	NC_000004.12:g.95148752A>G	gnomAD
BMPR1B	O00238	p.Val364Phe	rs1416959162	missense variant	-	NC_000004.12:g.95148761G>T	gnomAD
BMPR1B	O00238	p.Val364Ala	rs773874757	missense variant	-	NC_000004.12:g.95148762T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp365Val	rs1385960904	missense variant	-	NC_000004.12:g.95148765A>T	gnomAD
BMPR1B	O00238	p.Asp365Asn	rs761588488	missense variant	-	NC_000004.12:g.95148764G>A	ExAC,gnomAD
BMPR1B	O00238	p.Asp365Glu	rs1456285512	missense variant	-	NC_000004.12:g.95148766C>A	gnomAD
BMPR1B	O00238	p.Ile366Val	rs767077000	missense variant	-	NC_000004.12:g.95148767A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile366Arg	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile366Thr	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Ser	rs148550671	missense variant	-	NC_000004.12:g.95148770C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Arg	rs1284054241	missense variant	-	NC_000004.12:g.95148771C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Thr	rs148550671	missense variant	-	NC_000004.12:g.95148770C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Arg	rs1286747826	missense variant	-	NC_000004.12:g.95148774C>G	gnomAD
BMPR1B	O00238	p.Pro368Ser	rs577188671	missense variant	-	NC_000004.12:g.95148773C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Ser	RCV000379873	missense variant	Brachydactyly	NC_000004.12:g.95148773C>T	ClinVar
BMPR1B	O00238	p.Asn369Ser	rs747347346	missense variant	-	NC_000004.12:g.95148777A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn369Asp	rs778257341	missense variant	-	NC_000004.12:g.95148776A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn369Asp	RCV000283012	missense variant	Brachydactyly	NC_000004.12:g.95148776A>G	ClinVar
BMPR1B	O00238	p.Thr370Ile	rs781424907	missense variant	-	NC_000004.12:g.95148780C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr370Ser	rs757434006	missense variant	-	NC_000004.12:g.95148779A>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg371Gln	RCV000685866	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95148783G>A	ClinVar
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg371Gln	VAR_041405	missense variant	-	NC_000004.12:g.95148783G>A	UniProt
BMPR1B	O00238	p.Arg371Leu	rs34970181	missense variant	-	NC_000004.12:g.95148783G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Pro	rs34970181	missense variant	-	NC_000004.12:g.95148783G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Leu	RCV000340460	missense variant	Brachydactyly	NC_000004.12:g.95148783G>T	ClinVar
BMPR1B	O00238	p.Arg376Cys	rs768328319	missense variant	-	NC_000004.12:g.95148797C>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr377Cys	rs559805218	missense variant	-	NC_000004.12:g.95148801A>G	1000Genomes
BMPR1B	O00238	p.Met378Arg	rs1292399504	missense variant	-	NC_000004.12:g.95148804T>G	TOPMed
BMPR1B	O00238	p.Ser386Thr	rs1204148833	missense variant	-	NC_000004.12:g.95148828G>C	gnomAD
BMPR1B	O00238	p.Leu387Phe	rs1426672160	missense variant	-	NC_000004.12:g.95148832G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg389Gly	rs760241910	missense variant	-	NC_000004.12:g.95148836A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn390Ser	rs766046737	missense variant	-	NC_000004.12:g.95148840A>G	ExAC,gnomAD
BMPR1B	O00238	p.His391Pro	rs943183996	missense variant	-	NC_000004.12:g.95148843A>C	gnomAD
BMPR1B	O00238	p.His391Arg	rs943183996	missense variant	-	NC_000004.12:g.95148843A>G	gnomAD
BMPR1B	O00238	p.Phe392Leu	rs1412113319	missense variant	-	NC_000004.12:g.95148847C>G	gnomAD
BMPR1B	O00238	p.Phe392Val	rs1464900722	missense variant	-	NC_000004.12:g.95148845T>G	TOPMed
BMPR1B	O00238	p.Phe392Ser	rs753253207	missense variant	-	NC_000004.12:g.95148846T>C	ExAC,gnomAD
BMPR1B	O00238	p.Gln393His	rs758874215	missense variant	-	NC_000004.12:g.95148850G>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr395Ser	rs1350190350	missense variant	-	NC_000004.12:g.95148855A>C	gnomAD
BMPR1B	O00238	p.Met397Val	rs548452438	missense variant	-	NC_000004.12:g.95148860A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ala398Thr	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ala398Ser	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met400Val	rs757593146	missense variant	-	NC_000004.12:g.95148869A>G	ExAC,gnomAD
BMPR1B	O00238	p.Met400Ile	rs1279570525	missense variant	-	NC_000004.12:g.95148871G>A	gnomAD
BMPR1B	O00238	p.Phe403Val	rs1207154351	missense variant	-	NC_000004.12:g.95148878T>G	gnomAD
BMPR1B	O00238	p.Val410Phe	rs746134819	missense variant	-	NC_000004.12:g.95148899G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val410Leu	rs746134819	missense variant	-	NC_000004.12:g.95148899G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala411Thr	rs969503674	missense variant	-	NC_000004.12:g.95148902G>A	TOPMed
BMPR1B	O00238	p.Arg412Lys	rs561948192	missense variant	-	NC_000004.12:g.95148906G>A	1000Genomes,TOPMed
BMPR1B	O00238	p.Arg412Gly	rs1190618723	missense variant	-	NC_000004.12:g.95148905A>G	TOPMed
BMPR1B	O00238	p.Arg413Thr	rs780171269	missense variant	-	NC_000004.12:g.95148909G>C	ExAC,gnomAD
BMPR1B	O00238	p.Arg413Ser	rs186299744	missense variant	-	NC_000004.12:g.95148910A>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Cys414Arg	rs980823830	missense variant	-	NC_000004.12:g.95148911T>C	TOPMed
BMPR1B	O00238	p.Cys414Tyr	rs1476786316	missense variant	-	NC_000004.12:g.95148912G>A	gnomAD
BMPR1B	O00238	p.Gly418Asp	rs1248109194	missense variant	-	NC_000004.12:g.95152643G>A	gnomAD
BMPR1B	O00238	p.Ile419Thr	rs1450785068	missense variant	-	NC_000004.12:g.95152646T>C	gnomAD
BMPR1B	O00238	p.Val420Ala	rs1249589876	missense variant	-	NC_000004.12:g.95152649T>C	TOPMed
BMPR1B	O00238	p.His428Gln	rs1313808319	missense variant	-	NC_000004.12:g.95152674T>A	gnomAD
BMPR1B	O00238	p.His428Asp	rs1447783996	missense variant	-	NC_000004.12:g.95152672C>G	TOPMed
BMPR1B	O00238	p.Leu430Val	rs1208101811	missense variant	-	NC_000004.12:g.95152678C>G	TOPMed
BMPR1B	O00238	p.Pro432Leu	rs1458772834	missense variant	-	NC_000004.12:g.95152685C>T	gnomAD
BMPR1B	O00238	p.Ser433Asn	rs1165392388	missense variant	-	NC_000004.12:g.95152688G>A	gnomAD
BMPR1B	O00238	p.Pro435Leu	rs985981901	missense variant	-	NC_000004.12:g.95152694C>T	TOPMed
BMPR1B	O00238	p.Met440Val	rs376221874	missense variant	-	NC_000004.12:g.95152708A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met440Leu	rs376221874	missense variant	-	NC_000004.12:g.95152708A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Thr	rs879008149	missense variant	-	NC_000004.12:g.95152712G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Lys	rs879008149	missense variant	-	NC_000004.12:g.95152712G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Thr	rs752045710	missense variant	-	NC_000004.12:g.95152718T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Met	rs1432975995	missense variant	-	NC_000004.12:g.95152719T>G	gnomAD
BMPR1B	O00238	p.Ile446Leu	rs1325757207	missense variant	-	NC_000004.12:g.95152726A>C	gnomAD
BMPR1B	O00238	p.Lys447Arg	rs371436999	missense variant	-	NC_000004.12:g.95152730A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro451Ser	rs1321058552	missense variant	-	NC_000004.12:g.95152741C>T	TOPMed
BMPR1B	O00238	p.Asn455His	rs756258100	missense variant	-	NC_000004.12:g.95152753A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Pro	rs140047318	missense variant	-	NC_000004.12:g.95152757G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Leu	rs140047318	missense variant	-	NC_000004.12:g.95152757G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gly	rs780280883	missense variant	-	NC_000004.12:g.95152756C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gln	rs140047318	missense variant	-	NC_000004.12:g.95152757G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Trp	rs780280883	missense variant	-	NC_000004.12:g.95152756C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser458Asn	rs1260383981	missense variant	-	NC_000004.12:g.95152763G>A	gnomAD
BMPR1B	O00238	p.Ser459Gly	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>G	gnomAD
BMPR1B	O00238	p.Ser459Arg	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>C	gnomAD
BMPR1B	O00238	p.Ser459Asn	rs1190153129	missense variant	-	NC_000004.12:g.95152766G>A	gnomAD
BMPR1B	O00238	p.Glu461Lys	rs1367092167	missense variant	-	NC_000004.12:g.95152771G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Cys462Phe	rs766596192	missense variant	-	NC_000004.12:g.95154549G>T	ExAC,gnomAD
BMPR1B	O00238	p.Cys462Tyr	rs766596192	missense variant	-	NC_000004.12:g.95154549G>A	ExAC,gnomAD
BMPR1B	O00238	p.Arg464Ser	rs1308433194	missense variant	-	NC_000004.12:g.95154556G>T	gnomAD
BMPR1B	O00238	p.Gln465Arg	rs369609245	missense variant	-	NC_000004.12:g.95154558A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met466Leu	rs778929099	missense variant	-	NC_000004.12:g.95154560A>T	ExAC,gnomAD
BMPR1B	O00238	p.Gly467Ala	rs1305848208	missense variant	-	NC_000004.12:g.95154564G>C	gnomAD
BMPR1B	O00238	p.Met470Thr	rs1234757133	missense variant	-	NC_000004.12:g.95154573T>C	gnomAD
BMPR1B	O00238	p.Thr471Ala	rs752827445	missense variant	-	NC_000004.12:g.95154575A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala479Ser	rs746760963	missense variant	-	NC_000004.12:g.95154599G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala479Val	rs1241726567	missense variant	-	NC_000004.12:g.95154600C>T	TOPMed
BMPR1B	O00238	p.Ala479Thr	rs746760963	missense variant	-	NC_000004.12:g.95154599G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr483Ala	rs1435017955	missense variant	-	NC_000004.12:g.95154611A>G	gnomAD
BMPR1B	O00238	p.Thr483Ile	rs1057521819	missense variant	-	NC_000004.12:g.95154612C>T	-
BMPR1B	O00238	p.Thr483Ile	RCV000444497	missense variant	-	NC_000004.12:g.95154612C>T	ClinVar
BMPR1B	O00238	p.Ala484Val	rs1394503432	missense variant	-	NC_000004.12:g.95154615C>T	gnomAD
BMPR1B	O00238	p.Ala484Ser	rs769339843	missense variant	-	NC_000004.12:g.95154614G>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	-	NC_000004.12:g.95154621G>A	-
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Gln	VAR_037967	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	-	NC_000004.12:g.95154620C>T	-
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Trp	VAR_023820	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt
BMPR1B	O00238	p.Arg486Gln	RCV000006936	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154621G>A	ClinVar
BMPR1B	O00238	p.Arg486Trp	RCV000006934	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154620C>T	ClinVar
BMPR1B	O00238	p.Val487Ile	rs369899177	missense variant	-	NC_000004.12:g.95154623G>A	ESP
BMPR1B	O00238	p.Leu491Val	rs748806114	missense variant	-	NC_000004.12:g.95154635C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ser497Ala	rs1460265958	missense variant	-	NC_000004.12:g.95154653T>G	gnomAD
BMPR1B	O00238	p.Gln498Arg	rs773752951	missense variant	-	NC_000004.12:g.95154657A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln498Ter	rs1297303851	stop gained	-	NC_000004.12:g.95154656C>T	gnomAD
BMPR1B	O00238	p.Ile500Val	rs1300655982	missense variant	-	NC_000004.12:g.95154662A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile500Thr	rs761009116	missense variant	-	NC_000004.12:g.95154663T>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys501Arg	rs766714132	missense variant	-	NC_000004.12:g.95154666A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Thr	rs766714132	missense variant	-	NC_000004.12:g.95154666A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Glu	rs1229797838	missense variant	-	NC_000004.12:g.95154665A>G	TOPMed,gnomAD
BMPR1B	O00238	p.LeuTer502LeuUnk	rs1443065466	stop lost	-	NC_000004.12:g.95154670_95154671del	TOPMed
BMPR1B	O00238	p.Arg4Gln	rs150974461	missense variant	-	NC_000004.12:g.95104435G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg4Pro	rs150974461	missense variant	-	NC_000004.12:g.95104435G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser5Arg	rs1466418430	missense variant	-	NC_000004.12:g.95104439T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ala6Thr	rs143885868	missense variant	-	NC_000004.12:g.95104440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly7Arg	rs1279515650	missense variant	-	NC_000004.12:g.95104443G>A	TOPMed
BMPR1B	O00238	p.Thr13Ile	rs1374698890	missense variant	-	NC_000004.12:g.95104462C>T	TOPMed
BMPR1B	O00238	p.Lys14Gln	rs763496728	missense variant	-	NC_000004.12:g.95104464A>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys15Glu	rs1346115955	missense variant	-	NC_000004.12:g.95104467A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Glu19Asp	rs773850751	missense variant	-	NC_000004.12:g.95104481G>C	ExAC,gnomAD
BMPR1B	O00238	p.Ser20Gly	rs1281247073	missense variant	-	NC_000004.12:g.95104482A>G	gnomAD
BMPR1B	O00238	p.Thr21Ile	rs190883013	missense variant	-	NC_000004.12:g.95104486C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr24Ala	RCV000425791	missense variant	-	NC_000004.12:g.95104494A>G	ClinVar
BMPR1B	O00238	p.Thr24Ala	rs754365645	missense variant	-	NC_000004.12:g.95104494A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr24Ile	rs912115035	missense variant	-	NC_000004.12:g.95104495C>T	-
BMPR1B	O00238	p.Pro25Arg	rs145700191	missense variant	-	NC_000004.12:g.95104498C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro25His	rs145700191	missense variant	-	NC_000004.12:g.95104498C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26Pro	rs377000102	missense variant	-	NC_000004.12:g.95104501G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26Cys	rs758706811	missense variant	-	NC_000004.12:g.95104500C>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg26His	rs377000102	missense variant	-	NC_000004.12:g.95104501G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro27Arg	RCV000625922	missense variant	Primary pulmonary hypertension 3 (PPH3)	NC_000004.12:g.95104504C>G	ClinVar
BMPR1B	O00238	p.Pro27Arg	rs757312834	missense variant	-	NC_000004.12:g.95104504C>G	ExAC,gnomAD
BMPR1B	O00238	p.Val29Phe	rs773417270	missense variant	-	NC_000004.12:g.95104509G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg31His	VAR_041401	missense variant	-	NC_000004.12:g.95104516G>A	UniProt
BMPR1B	O00238	p.Arg31Ser	rs745854387	missense variant	-	NC_000004.12:g.95104515C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31His	RCV000263624	missense variant	Brachydactyly	NC_000004.12:g.95104516G>A	ClinVar
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	-	NC_000004.12:g.95104515C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg31Cys	VAR_075520	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt
BMPR1B	O00238	p.Arg31Cys	RCV000201128	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	ClinVar
BMPR1B	O00238	p.His37Tyr	rs1409575151	missense variant	-	NC_000004.12:g.95104533C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Glu40Gly	rs1381581400	missense variant	-	NC_000004.12:g.95104543A>G	TOPMed
BMPR1B	O00238	p.Asp41Tyr	rs775495653	missense variant	-	NC_000004.12:g.95104545G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn45Tyr	rs749047942	missense variant	-	NC_000004.12:g.95104557A>T	ExAC,gnomAD
BMPR1B	O00238	p.Asn45Asp	rs749047942	missense variant	-	NC_000004.12:g.95104557A>G	ExAC,gnomAD
BMPR1B	O00238	p.Gly51Val	rs1245250823	missense variant	-	NC_000004.12:g.95114728G>T	gnomAD
BMPR1B	O00238	p.Cys53Arg	RCV000201167	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95114733T>C	ClinVar
BMPR1B	O00238	p.Cys53Arg	rs863225041	missense variant	-	NC_000004.12:g.95114733T>C	-
BMPR1B	O00238	p.Thr55Met	rs1033648877	missense variant	-	NC_000004.12:g.95114740C>T	gnomAD
BMPR1B	O00238	p.Met56Thr	rs1191790811	missense variant	-	NC_000004.12:g.95114743T>C	TOPMed
BMPR1B	O00238	p.Ile57Val	rs1470243376	missense variant	-	NC_000004.12:g.95114745A>G	TOPMed
BMPR1B	O00238	p.Ile57Thr	rs1364478234	missense variant	-	NC_000004.12:g.95114746T>C	gnomAD
BMPR1B	O00238	p.Asp61Ala	rs1553939371	missense variant	-	NC_000004.12:g.95114758A>C	-
BMPR1B	O00238	p.Asp61Ala	RCV000596072	missense variant	-	NC_000004.12:g.95114758A>C	ClinVar
BMPR1B	O00238	p.Val66Met	rs1176860852	missense variant	-	NC_000004.12:g.95114772G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ser77Ala	rs200702974	missense variant	-	NC_000004.12:g.95114805T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83His	rs369807264	missense variant	-	NC_000004.12:g.95115685G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Gly	rs140970485	missense variant	-	NC_000004.12:g.95115686A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Tyr	rs369807264	missense variant	-	NC_000004.12:g.95115685G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Val	rs140970485	missense variant	-	NC_000004.12:g.95115686A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Ala	rs140970485	missense variant	-	NC_000004.12:g.95115686A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Asn	rs369807264	missense variant	-	NC_000004.12:g.95115685G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Glu	rs890305622	missense variant	-	NC_000004.12:g.95115687C>A	TOPMed
BMPR1B	O00238	p.Thr84Ala	rs192392906	missense variant	-	NC_000004.12:g.95115688A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr84Ile	rs200083866	missense variant	-	NC_000004.12:g.95115689C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr84Ser	rs192392906	missense variant	-	NC_000004.12:g.95115688A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Pro85Ser	rs762270033	missense variant	-	NC_000004.12:g.95115691C>T	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Arg	rs767805662	missense variant	-	NC_000004.12:g.95115692C>G	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Leu	rs767805662	missense variant	-	NC_000004.12:g.95115692C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile86Phe	rs1200081382	missense variant	-	NC_000004.12:g.95115694A>T	gnomAD
BMPR1B	O00238	p.Gln89His	rs558142045	missense variant	-	NC_000004.12:g.95115705A>T	1000Genomes
BMPR1B	O00238	p.Arg90Lys	rs1486216727	missense variant	-	NC_000004.12:g.95115707G>A	gnomAD
BMPR1B	O00238	p.Arg91Ile	rs376183647	missense variant	-	NC_000004.12:g.95115710G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu94Ala	rs139161475	missense variant	-	NC_000004.12:g.95115719A>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu94Lys	rs200886063	missense variant	-	NC_000004.12:g.95115718G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu94Val	rs139161475	missense variant	-	NC_000004.12:g.95115719A>T	ExAC,gnomAD
BMPR1B	O00238	p.Thr97Ala	RCV000304200	missense variant	-	NC_000004.12:g.95115727A>G	ClinVar
BMPR1B	O00238	p.Thr97Ser	rs759423600	missense variant	-	NC_000004.12:g.95115727A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Lys	rs151289886	missense variant	-	NC_000004.12:g.95115728C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Arg	rs151289886	missense variant	-	NC_000004.12:g.95115728C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ile	rs151289886	missense variant	-	NC_000004.12:g.95115728C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ala	rs759423600	missense variant	-	NC_000004.12:g.95115727A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His107Leu	rs746713318	missense variant	-	NC_000004.12:g.95115758A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr109Ile	rs1386616728	missense variant	-	NC_000004.12:g.95115764C>T	gnomAD
BMPR1B	O00238	p.Pro112Ser	rs1225550138	missense variant	-	NC_000004.12:g.95115772C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Asp117Asn	rs571763786	missense variant	-	NC_000004.12:g.95115787G>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Phe118Leu	rs1185014709	missense variant	-	NC_000004.12:g.95123812T>C	gnomAD
BMPR1B	O00238	p.Val119Gly	rs541202129	missense variant	-	NC_000004.12:g.95123816T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Asp120Asn	rs1422671894	missense variant	-	NC_000004.12:g.95123818G>A	gnomAD
BMPR1B	O00238	p.Gly121Ter	RCV000006935	frameshift	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95123821_95123828del	ClinVar
BMPR1B	O00238	p.His124Arg	rs1397484175	missense variant	-	NC_000004.12:g.95123831A>G	TOPMed
BMPR1B	O00238	p.His124Tyr	rs759803347	missense variant	-	NC_000004.12:g.95123830C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg126Lys	rs1366056747	missense variant	-	NC_000004.12:g.95123837G>A	gnomAD
BMPR1B	O00238	p.Leu129Phe	rs755669488	missense variant	-	NC_000004.12:g.95123845C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ser131Thr	rs561117066	missense variant	-	NC_000004.12:g.95123851T>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Val132Gly	rs150002205	missense variant	-	NC_000004.12:g.95123855T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val132Leu	rs931491708	missense variant	-	NC_000004.12:g.95123854G>T	TOPMed
BMPR1B	O00238	p.Thr133Pro	rs772559135	missense variant	-	NC_000004.12:g.95123857A>C	ExAC
BMPR1B	O00238	p.Val134Ile	rs747412096	missense variant	-	NC_000004.12:g.95123860G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val134Ala	rs1392029669	missense variant	-	NC_000004.12:g.95123861T>C	gnomAD
BMPR1B	O00238	p.Cys135Gly	rs145201971	missense variant	-	NC_000004.12:g.95123863T>G	ESP,ExAC,TOPMed
BMPR1B	O00238	p.Leu139Phe	rs1250134332	missense variant	-	NC_000004.12:g.95123877G>T	TOPMed
BMPR1B	O00238	p.Leu139Met	rs1324227207	missense variant	-	NC_000004.12:g.95123875T>A	TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	rs138801821	missense variant	-	NC_000004.12:g.95123878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	RCV000202696	missense variant	-	NC_000004.12:g.95123878G>A	ClinVar
BMPR1B	O00238	p.Leu141Val	rs1346621381	missense variant	-	NC_000004.12:g.95123881C>G	gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg149Trp	rs34231464	missense variant	-	NC_000004.12:g.95123905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg149Trp	RCV000333918	missense variant	Brachydactyly	NC_000004.12:g.95123905C>T	ClinVar
BMPR1B	O00238	p.Gln153Arg	rs1197682678	missense variant	-	NC_000004.12:g.95124994A>G	gnomAD
BMPR1B	O00238	p.Glu154Lys	rs1172006396	missense variant	-	NC_000004.12:g.95124996G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr155Asn	rs140360809	missense variant	-	NC_000004.12:g.95125000C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg156Thr	rs769863111	missense variant	-	NC_000004.12:g.95125003G>C	ExAC,gnomAD
BMPR1B	O00238	p.Pro157Ser	rs779609471	missense variant	-	NC_000004.12:g.95125005C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro157Thr	rs779609471	missense variant	-	NC_000004.12:g.95125005C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro157Ser	RCV000424734	missense variant	-	NC_000004.12:g.95125005C>T	ClinVar
BMPR1B	O00238	p.Arg158Gln	rs761486688	missense variant	-	NC_000004.12:g.95125009G>A	ExAC,gnomAD
BMPR1B	O00238	p.Arg158Gly	rs774364369	missense variant	-	NC_000004.12:g.95125008C>G	ExAC,gnomAD
BMPR1B	O00238	p.Tyr159Asp	rs1366100450	missense variant	-	NC_000004.12:g.95125011T>G	gnomAD
BMPR1B	O00238	p.Ser160Asn	rs149589961	missense variant	-	NC_000004.12:g.95125015G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser160Cys	rs750037039	missense variant	-	NC_000004.12:g.95125014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile161Ser	rs766140919	missense variant	-	NC_000004.12:g.95125018T>G	ExAC,gnomAD
BMPR1B	O00238	p.Leu163Ile	rs1438025940	missense variant	-	NC_000004.12:g.95125023T>A	TOPMed
BMPR1B	O00238	p.Glu164Lys	rs754565613	missense variant	-	NC_000004.12:g.95125026G>A	ExAC,gnomAD
BMPR1B	O00238	p.Glu164Gln	rs754565613	missense variant	-	NC_000004.12:g.95125026G>C	ExAC,gnomAD
BMPR1B	O00238	p.Asp166Ala	rs781670372	missense variant	-	NC_000004.12:g.95125033A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166His	rs752156962	missense variant	-	NC_000004.12:g.95125032G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Asn	rs752156962	missense variant	-	NC_000004.12:g.95125032G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Val	rs781670372	missense variant	-	NC_000004.12:g.95125033A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu167Ala	rs1490974342	missense variant	-	NC_000004.12:g.95125036A>C	gnomAD
BMPR1B	O00238	p.Thr168Ser	rs373998952	missense variant	-	NC_000004.12:g.95125039C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Tyr169Ser	rs769948288	missense variant	-	NC_000004.12:g.95125042A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Val	rs778170724	missense variant	-	NC_000004.12:g.95125044A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Ser	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Thr	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Phe	rs778170724	missense variant	-	NC_000004.12:g.95125044A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Met	rs768768926	missense variant	-	NC_000004.12:g.95125046T>G	ExAC,gnomAD
BMPR1B	O00238	p.Ser175Pro	rs143554488	missense variant	-	NC_000004.12:g.95125059T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Ala	rs143554488	missense variant	-	NC_000004.12:g.95125059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Phe	rs367777041	missense variant	-	NC_000004.12:g.95125060C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Cys	rs367777041	missense variant	-	NC_000004.12:g.95125060C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu176Val	rs1337920731	missense variant	-	NC_000004.12:g.95125062C>G	TOPMed
BMPR1B	O00238	p.Leu176Pro	rs771747962	missense variant	-	NC_000004.12:g.95125063T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg177Gly	rs773000162	missense variant	-	NC_000004.12:g.95125065A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp178Asn	rs1442468616	missense variant	-	NC_000004.12:g.95125068G>A	gnomAD
BMPR1B	O00238	p.Leu179Ser	rs911866039	missense variant	-	NC_000004.12:g.95125072T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Leu179Phe	rs766089514	missense variant	-	NC_000004.12:g.95125073A>C	ExAC,gnomAD
BMPR1B	O00238	p.Ile180Asn	rs776445882	missense variant	-	NC_000004.12:g.95125075T>A	ExAC
BMPR1B	O00238	p.Ile180Thr	rs776445882	missense variant	-	NC_000004.12:g.95125075T>C	ExAC
BMPR1B	O00238	p.Gln182Arg	rs1384205404	missense variant	-	NC_000004.12:g.95125081A>G	TOPMed
BMPR1B	O00238	p.Gln182His	rs1362547455	missense variant	-	NC_000004.12:g.95125082G>T	gnomAD
BMPR1B	O00238	p.Ser183Pro	RCV000664165	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000004.12:g.95125083T>C	ClinVar
BMPR1B	O00238	p.Ser183Thr	rs141691706	missense variant	-	NC_000004.12:g.95125083T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser183Pro	rs141691706	missense variant	-	NC_000004.12:g.95125083T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly187Ala	rs200839585	missense variant	-	NC_000004.12:g.95125096G>C	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Leu194Val	rs757843329	missense variant	-	NC_000004.12:g.95125116C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Arg	rs767925715	missense variant	-	NC_000004.12:g.95125117T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Pro	rs767925715	missense variant	-	NC_000004.12:g.95125117T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Gln	rs767925715	missense variant	-	NC_000004.12:g.95125117T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt,dbSNP
BMPR1B	O00238	p.Ile200Lys	VAR_023819	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	-	NC_000004.12:g.95129875T>A	-
BMPR1B	O00238	p.Ile200Lys	RCV000006933	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129875T>A	ClinVar
BMPR1B	O00238	p.Ile200Val	rs750954022	missense variant	-	NC_000004.12:g.95129874A>G	ExAC,gnomAD
BMPR1B	O00238	p.Lys202Arg	rs185062260	missense variant	-	NC_000004.12:g.95129881A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Lys202Arg	RCV000766164	missense variant	-	NC_000004.12:g.95129881A>G	ClinVar
BMPR1B	O00238	p.Gln205Glu	rs766791531	missense variant	-	NC_000004.12:g.95129889C>G	ExAC,gnomAD
BMPR1B	O00238	p.Met206Val	rs1344379581	missense variant	-	NC_000004.12:g.95129892A>G	TOPMed
BMPR1B	O00238	p.Lys208Gln	rs1260652488	missense variant	-	NC_000004.12:g.95129898A>C	gnomAD
BMPR1B	O00238	p.Gln209Pro	rs1176798119	missense variant	-	NC_000004.12:g.95129902A>C	gnomAD
BMPR1B	O00238	p.Gln209Glu	rs1299044974	missense variant	-	NC_000004.12:g.95129901C>G	TOPMed
BMPR1B	O00238	p.Ile210Val	rs754044696	missense variant	-	NC_000004.12:g.95129904A>G	ExAC,gnomAD
BMPR1B	O00238	p.Arg214Ser	rs1553941890	missense variant	-	NC_000004.12:g.95129916C>A	-
BMPR1B	O00238	p.Arg214His	rs755131943	missense variant	-	NC_000004.12:g.95129917G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg214Ser	RCV000519599	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129916C>A	ClinVar
BMPR1B	O00238	p.Gly216Ala	rs779006691	missense variant	-	NC_000004.12:g.95129923G>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu217Lys	rs748217063	missense variant	-	NC_000004.12:g.95129925G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val218Asp	rs1303785017	missense variant	-	NC_000004.12:g.95129929T>A	TOPMed
BMPR1B	O00238	p.Trp219Ter	rs863225042	stop gained	-	NC_000004.12:g.95129933G>A	-
BMPR1B	O00238	p.Trp219Ter	RCV000201044	nonsense	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95129933G>A	ClinVar
BMPR1B	O00238	p.Lys222Glu	rs758429876	missense variant	-	NC_000004.12:g.95129940A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys222Thr	rs957165736	missense variant	-	NC_000004.12:g.95129941A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Trp223Cys	rs1295971366	missense variant	-	NC_000004.12:g.95129945G>C	TOPMed
BMPR1B	O00238	p.Arg224His	RCV000386085	missense variant	Brachydactyly	NC_000004.12:g.95129947G>A	ClinVar
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg224His	VAR_041403	missense variant	-	NC_000004.12:g.95129947G>A	UniProt
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224Leu	rs35973133	missense variant	-	NC_000004.12:g.95129947G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224Cys	rs777745046	missense variant	-	NC_000004.12:g.95129946C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Asn	rs1200045028	missense variant	-	NC_000004.12:g.95129957G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Gln	rs574398307	missense variant	-	NC_000004.12:g.95129955A>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Glu	rs574398307	missense variant	-	NC_000004.12:g.95129955A>G	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Met	rs372556235	missense variant	-	NC_000004.12:g.95129956A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val228Ile	rs745674753	missense variant	-	NC_000004.12:g.95129958G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ala229Val	rs769423606	missense variant	-	NC_000004.12:g.95129962C>T	ExAC,gnomAD
BMPR1B	O00238	p.Lys231Ter	rs1207219833	stop gained	-	NC_000004.12:g.95129967A>T	gnomAD
BMPR1B	O00238	p.Phe234Leu	rs536641256	missense variant	-	NC_000004.12:g.95129978C>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr236Ala	rs1468067202	missense variant	-	NC_000004.12:g.95129982A>G	gnomAD
BMPR1B	O00238	p.Ala239Ser	rs773700021	missense variant	-	NC_000004.12:g.95129991G>T	ExAC,gnomAD
BMPR1B	O00238	p.Phe242Tyr	rs754133041	missense variant	-	NC_000004.12:g.95130001T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs761226009	missense variant	-	NC_000004.12:g.95130000T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Val	rs761226009	missense variant	-	NC_000004.12:g.95130000T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ile	rs761226009	missense variant	-	NC_000004.12:g.95130000T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ser	rs754133041	missense variant	-	NC_000004.12:g.95130001T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Cys	rs754133041	missense variant	-	NC_000004.12:g.95130001T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	RCV000328112	missense variant	Brachydactyly	NC_000004.12:g.95130004G>A	ClinVar
BMPR1B	O00238	p.Arg243Lys	rs886059731	missense variant	-	NC_000004.12:g.95130004G>A	gnomAD
BMPR1B	O00238	p.Arg243Ser	rs1306782325	missense variant	-	NC_000004.12:g.95130005A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Gly	rs755476693	missense variant	-	NC_000004.12:g.95130003A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Arg	rs751532146	missense variant	-	NC_000004.12:g.95130010C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Lys	rs751532146	missense variant	-	NC_000004.12:g.95130010C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Ala	rs779737736	missense variant	-	NC_000004.12:g.95130013A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Asp	rs748957679	missense variant	-	NC_000004.12:g.95130014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Glu246Lys	rs369168607	missense variant	-	NC_000004.12:g.95130012G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Gln	rs369168607	missense variant	-	NC_000004.12:g.95130012G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Gly	rs779737736	missense variant	-	NC_000004.12:g.95130013A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Val	rs779737736	missense variant	-	NC_000004.12:g.95130013A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile247Met	rs1270927104	missense variant	-	NC_000004.12:g.95130017A>G	gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Ter	rs142696562	stop gained	-	NC_000004.12:g.95130021C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Glu	rs142696562	missense variant	-	NC_000004.12:g.95130021C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Leu	rs187868598	missense variant	-	NC_000004.12:g.95130022A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Gln249Arg	rs187868598	missense variant	-	NC_000004.12:g.95130022A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr250Ile	rs771385869	missense variant	-	NC_000004.12:g.95130025C>T	ExAC,gnomAD
BMPR1B	O00238	p.Thr250Pro	rs1223084316	missense variant	-	NC_000004.12:g.95130024A>C	gnomAD
BMPR1B	O00238	p.Val251Gly	rs1463003460	missense variant	-	NC_000004.12:g.95130028T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Thr	rs1044164391	missense variant	-	NC_000004.12:g.95130034T>C	gnomAD
BMPR1B	O00238	p.Met253Leu	rs948475886	missense variant	-	NC_000004.12:g.95130033A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	rs200198618	missense variant	-	NC_000004.12:g.95130038G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	RCV000384921	missense variant	Brachydactyly	NC_000004.12:g.95130038G>T	ClinVar
BMPR1B	O00238	p.Asn257Asp	rs201034260	missense variant	-	NC_000004.12:g.95130045A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn257Asp	RCV000480897	missense variant	-	NC_000004.12:g.95130045A>G	ClinVar
BMPR1B	O00238	p.Ile258Val	rs1473660478	missense variant	-	NC_000004.12:g.95130048A>G	TOPMed
BMPR1B	O00238	p.Gly260Asp	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Gly260Val	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Phe261Tyr	rs375308110	missense variant	-	NC_000004.12:g.95131218T>A	ESP,ExAC
BMPR1B	O00238	p.Ile262Val	rs761965542	missense variant	-	NC_000004.12:g.95131220A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Thr	rs767750336	missense variant	-	NC_000004.12:g.95131226G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Ser	rs767750336	missense variant	-	NC_000004.12:g.95131226G>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile266Val	rs1267095165	missense variant	-	NC_000004.12:g.95131232A>G	gnomAD
BMPR1B	O00238	p.Gly270Glu	rs750357066	missense variant	-	NC_000004.12:g.95131245G>A	ExAC,gnomAD
BMPR1B	O00238	p.Gln274Glu	rs1183108551	missense variant	-	NC_000004.12:g.95131256C>G	gnomAD
BMPR1B	O00238	p.Gln274His	rs1414676286	missense variant	-	NC_000004.12:g.95131258G>C	gnomAD
BMPR1B	O00238	p.Leu277Val	rs755942515	missense variant	-	NC_000004.12:g.95131265C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr279Ile	rs147336783	missense variant	-	NC_000004.12:g.95131272C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp280Glu	rs1401526219	missense variant	-	NC_000004.12:g.95131276C>G	gnomAD
BMPR1B	O00238	p.Asp280Asn	rs551370449	missense variant	-	NC_000004.12:g.95131274G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Tyr281Cys	rs1395395990	missense variant	-	NC_000004.12:g.95131278A>G	TOPMed,gnomAD
BMPR1B	O00238	p.His282Gln	rs371779248	missense variant	-	NC_000004.12:g.95131282T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His282Tyr	rs556937566	missense variant	-	NC_000004.12:g.95131280C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly285Asp	rs1226334806	missense variant	-	NC_000004.12:g.95131290G>A	gnomAD
BMPR1B	O00238	p.Leu287Val	rs1478767431	missense variant	-	NC_000004.12:g.95131295C>G	TOPMed
BMPR1B	O00238	p.Tyr288His	rs746544755	missense variant	-	NC_000004.12:g.95131298T>C	ExAC,gnomAD
BMPR1B	O00238	p.Tyr288Asn	rs746544755	missense variant	-	NC_000004.12:g.95131298T>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr290His	rs770135176	missense variant	-	NC_000004.12:g.95131304T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys292Asn	rs1180765631	missense variant	-	NC_000004.12:g.95131312G>T	TOPMed
BMPR1B	O00238	p.Lys292Arg	rs1001539320	missense variant	-	NC_000004.12:g.95131311A>G	gnomAD
BMPR1B	O00238	p.Ser293Cys	rs1206508270	missense variant	-	NC_000004.12:g.95131314C>G	gnomAD
BMPR1B	O00238	p.Thr294Ser	rs1471841789	missense variant	-	NC_000004.12:g.95131317C>G	gnomAD
BMPR1B	O00238	p.Thr295Ile	rs1481774294	missense variant	-	NC_000004.12:g.95131320C>T	TOPMed
BMPR1B	O00238	p.Asp297His	rs1205132180	missense variant	-	NC_000004.12:g.95131325G>C	TOPMed
BMPR1B	O00238	p.Asp297Gly	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>G	gnomAD
BMPR1B	O00238	p.Asp297Ala	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>C	gnomAD
BMPR1B	O00238	p.Asp297Glu	rs112111860	missense variant	-	NC_000004.12:g.95131327C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp297Asn	VAR_041404	Missense	-	-	UniProt
BMPR1B	O00238	p.Ala298Thr	rs373000965	missense variant	-	NC_000004.12:g.95131328G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Arg	rs773095683	missense variant	-	NC_000004.12:g.95131332A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Glu	rs762320529	missense variant	-	NC_000004.12:g.95131331A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Gln	rs762320529	missense variant	-	NC_000004.12:g.95131331A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Asn	rs760837301	missense variant	-	NC_000004.12:g.95131333A>C	ExAC,gnomAD
BMPR1B	O00238	p.Met301Val	rs199613098	missense variant	-	NC_000004.12:g.95131337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met301Ile	rs753862322	missense variant	-	NC_000004.12:g.95131339G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys303Gln	rs370428276	missense variant	-	NC_000004.12:g.95131343A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala305Thr	rs765766633	missense variant	-	NC_000004.12:g.95131349G>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr306Cys	rs1228462504	missense variant	-	NC_000004.12:g.95131353A>G	gnomAD
BMPR1B	O00238	p.Val309Ile	rs757988979	missense variant	-	NC_000004.12:g.95131361G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ser310Gly	rs777487568	missense variant	-	NC_000004.12:g.95131364A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr317Ile	rs1358949370	missense variant	-	NC_000004.12:g.95131386C>T	TOPMed
BMPR1B	O00238	p.Glu318Gln	rs750995828	missense variant	-	NC_000004.12:g.95131388G>C	ExAC,gnomAD
BMPR1B	O00238	p.Phe320Ser	rs756816303	missense variant	-	NC_000004.12:g.95131395T>C	ExAC,gnomAD
BMPR1B	O00238	p.Thr322Ile	rs1332563913	missense variant	-	NC_000004.12:g.95131401C>T	TOPMed
BMPR1B	O00238	p.Lys325Asn	RCV000208782	missense variant	Brachydactyly, type a1, d (BDA1D)	NC_000004.12:g.95131411A>C	ClinVar
BMPR1B	O00238	p.Lys325Asn	rs869025614	missense variant	-	NC_000004.12:g.95131411A>C	-
BMPR1B	O00238	p.Ala327Thr	rs141032424	missense variant	-	NC_000004.12:g.95131415G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala327Ser	rs141032424	missense variant	-	NC_000004.12:g.95131415G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala327Val	rs1157918508	missense variant	-	NC_000004.12:g.95131416C>T	TOPMed
BMPR1B	O00238	p.Ile328Val	rs1170531805	missense variant	-	NC_000004.12:g.95131418A>G	gnomAD
BMPR1B	O00238	p.Ala329Val	rs1471363374	missense variant	-	NC_000004.12:g.95131422C>T	TOPMed
BMPR1B	O00238	p.His330Tyr	rs1177728492	missense variant	-	NC_000004.12:g.95131424C>T	TOPMed
BMPR1B	O00238	p.Arg331Gln	rs1427765668	missense variant	-	NC_000004.12:g.95131428G>A	gnomAD
BMPR1B	O00238	p.Arg331Gly	rs376126706	missense variant	-	NC_000004.12:g.95131427C>G	ESP,ExAC,gnomAD
BMPR1B	O00238	p.Leu333Val	rs978472184	missense variant	-	NC_000004.12:g.95131433C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Leu	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Val	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Val340Met	rs779359224	missense variant	-	NC_000004.12:g.95131454G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys341Met	rs1438345481	missense variant	-	NC_000004.12:g.95131458A>T	gnomAD
BMPR1B	O00238	p.Lys342Glu	rs748524936	missense variant	-	NC_000004.12:g.95131460A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys342Gln	rs748524936	missense variant	-	NC_000004.12:g.95131460A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn343Asp	rs1264056613	missense variant	-	NC_000004.12:g.95131463A>G	TOPMed
BMPR1B	O00238	p.Thr345Ser	rs773503299	missense variant	-	NC_000004.12:g.95131470C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile348Val	rs1339367828	missense variant	-	NC_000004.12:g.95131478A>G	gnomAD
BMPR1B	O00238	p.Val355Leu	rs1224854340	missense variant	-	NC_000004.12:g.95131499G>C	TOPMed
BMPR1B	O00238	p.Lys356Thr	rs1282921509	missense variant	-	NC_000004.12:g.95131503A>C	TOPMed
BMPR1B	O00238	p.Phe357Cys	rs528180688	missense variant	-	NC_000004.12:g.95131506T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ile358Val	rs1454953723	missense variant	-	NC_000004.12:g.95131508A>G	TOPMed
BMPR1B	O00238	p.Ser359Gly	rs201289177	missense variant	-	NC_000004.12:g.95131511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp360Gly	rs763992306	missense variant	-	NC_000004.12:g.95148750A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr361Lys	rs1416896677	missense variant	-	NC_000004.12:g.95148753C>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr361Ala	rs1179983257	missense variant	-	NC_000004.12:g.95148752A>G	gnomAD
BMPR1B	O00238	p.Val364Phe	rs1416959162	missense variant	-	NC_000004.12:g.95148761G>T	gnomAD
BMPR1B	O00238	p.Val364Ala	rs773874757	missense variant	-	NC_000004.12:g.95148762T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp365Glu	rs1456285512	missense variant	-	NC_000004.12:g.95148766C>A	gnomAD
BMPR1B	O00238	p.Asp365Val	rs1385960904	missense variant	-	NC_000004.12:g.95148765A>T	gnomAD
BMPR1B	O00238	p.Asp365Asn	rs761588488	missense variant	-	NC_000004.12:g.95148764G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ile366Val	rs767077000	missense variant	-	NC_000004.12:g.95148767A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile366Arg	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile366Thr	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Ser	rs148550671	missense variant	-	NC_000004.12:g.95148770C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Arg	rs1284054241	missense variant	-	NC_000004.12:g.95148771C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Thr	rs148550671	missense variant	-	NC_000004.12:g.95148770C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Arg	rs1286747826	missense variant	-	NC_000004.12:g.95148774C>G	gnomAD
BMPR1B	O00238	p.Pro368Ser	RCV000379873	missense variant	Brachydactyly	NC_000004.12:g.95148773C>T	ClinVar
BMPR1B	O00238	p.Pro368Ser	rs577188671	missense variant	-	NC_000004.12:g.95148773C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn369Ser	rs747347346	missense variant	-	NC_000004.12:g.95148777A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn369Asp	RCV000283012	missense variant	Brachydactyly	NC_000004.12:g.95148776A>G	ClinVar
BMPR1B	O00238	p.Asn369Asp	rs778257341	missense variant	-	NC_000004.12:g.95148776A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr370Ile	rs781424907	missense variant	-	NC_000004.12:g.95148780C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr370Ser	rs757434006	missense variant	-	NC_000004.12:g.95148779A>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg371Leu	RCV000340460	missense variant	Brachydactyly	NC_000004.12:g.95148783G>T	ClinVar
BMPR1B	O00238	p.Arg371Pro	rs34970181	missense variant	-	NC_000004.12:g.95148783G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Leu	rs34970181	missense variant	-	NC_000004.12:g.95148783G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg371Gln	VAR_041405	missense variant	-	NC_000004.12:g.95148783G>A	UniProt
BMPR1B	O00238	p.Arg371Gln	RCV000685866	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95148783G>A	ClinVar
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg376Cys	rs768328319	missense variant	-	NC_000004.12:g.95148797C>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr377Cys	rs559805218	missense variant	-	NC_000004.12:g.95148801A>G	1000Genomes
BMPR1B	O00238	p.Met378Arg	rs1292399504	missense variant	-	NC_000004.12:g.95148804T>G	TOPMed
BMPR1B	O00238	p.Ser386Thr	rs1204148833	missense variant	-	NC_000004.12:g.95148828G>C	gnomAD
BMPR1B	O00238	p.Leu387Phe	rs1426672160	missense variant	-	NC_000004.12:g.95148832G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg389Gly	rs760241910	missense variant	-	NC_000004.12:g.95148836A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn390Ser	rs766046737	missense variant	-	NC_000004.12:g.95148840A>G	ExAC,gnomAD
BMPR1B	O00238	p.His391Pro	rs943183996	missense variant	-	NC_000004.12:g.95148843A>C	gnomAD
BMPR1B	O00238	p.His391Arg	rs943183996	missense variant	-	NC_000004.12:g.95148843A>G	gnomAD
BMPR1B	O00238	p.Phe392Leu	rs1412113319	missense variant	-	NC_000004.12:g.95148847C>G	gnomAD
BMPR1B	O00238	p.Phe392Val	rs1464900722	missense variant	-	NC_000004.12:g.95148845T>G	TOPMed
BMPR1B	O00238	p.Phe392Ser	rs753253207	missense variant	-	NC_000004.12:g.95148846T>C	ExAC,gnomAD
BMPR1B	O00238	p.Gln393His	rs758874215	missense variant	-	NC_000004.12:g.95148850G>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr395Ser	rs1350190350	missense variant	-	NC_000004.12:g.95148855A>C	gnomAD
BMPR1B	O00238	p.Met397Val	rs548452438	missense variant	-	NC_000004.12:g.95148860A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ala398Thr	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ala398Ser	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met400Val	rs757593146	missense variant	-	NC_000004.12:g.95148869A>G	ExAC,gnomAD
BMPR1B	O00238	p.Met400Ile	rs1279570525	missense variant	-	NC_000004.12:g.95148871G>A	gnomAD
BMPR1B	O00238	p.Phe403Val	rs1207154351	missense variant	-	NC_000004.12:g.95148878T>G	gnomAD
BMPR1B	O00238	p.Val410Phe	rs746134819	missense variant	-	NC_000004.12:g.95148899G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val410Leu	rs746134819	missense variant	-	NC_000004.12:g.95148899G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala411Thr	rs969503674	missense variant	-	NC_000004.12:g.95148902G>A	TOPMed
BMPR1B	O00238	p.Arg412Lys	rs561948192	missense variant	-	NC_000004.12:g.95148906G>A	1000Genomes,TOPMed
BMPR1B	O00238	p.Arg412Gly	rs1190618723	missense variant	-	NC_000004.12:g.95148905A>G	TOPMed
BMPR1B	O00238	p.Arg413Thr	rs780171269	missense variant	-	NC_000004.12:g.95148909G>C	ExAC,gnomAD
BMPR1B	O00238	p.Arg413Ser	rs186299744	missense variant	-	NC_000004.12:g.95148910A>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Cys414Arg	rs980823830	missense variant	-	NC_000004.12:g.95148911T>C	TOPMed
BMPR1B	O00238	p.Cys414Tyr	rs1476786316	missense variant	-	NC_000004.12:g.95148912G>A	gnomAD
BMPR1B	O00238	p.Gly418Asp	rs1248109194	missense variant	-	NC_000004.12:g.95152643G>A	gnomAD
BMPR1B	O00238	p.Ile419Thr	rs1450785068	missense variant	-	NC_000004.12:g.95152646T>C	gnomAD
BMPR1B	O00238	p.Val420Ala	rs1249589876	missense variant	-	NC_000004.12:g.95152649T>C	TOPMed
BMPR1B	O00238	p.His428Asp	rs1447783996	missense variant	-	NC_000004.12:g.95152672C>G	TOPMed
BMPR1B	O00238	p.His428Gln	rs1313808319	missense variant	-	NC_000004.12:g.95152674T>A	gnomAD
BMPR1B	O00238	p.Leu430Val	rs1208101811	missense variant	-	NC_000004.12:g.95152678C>G	TOPMed
BMPR1B	O00238	p.Pro432Leu	rs1458772834	missense variant	-	NC_000004.12:g.95152685C>T	gnomAD
BMPR1B	O00238	p.Ser433Asn	rs1165392388	missense variant	-	NC_000004.12:g.95152688G>A	gnomAD
BMPR1B	O00238	p.Pro435Leu	rs985981901	missense variant	-	NC_000004.12:g.95152694C>T	TOPMed
BMPR1B	O00238	p.Met440Val	rs376221874	missense variant	-	NC_000004.12:g.95152708A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met440Leu	rs376221874	missense variant	-	NC_000004.12:g.95152708A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Lys	rs879008149	missense variant	-	NC_000004.12:g.95152712G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Thr	rs879008149	missense variant	-	NC_000004.12:g.95152712G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Thr	rs752045710	missense variant	-	NC_000004.12:g.95152718T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Met	rs1432975995	missense variant	-	NC_000004.12:g.95152719T>G	gnomAD
BMPR1B	O00238	p.Ile446Leu	rs1325757207	missense variant	-	NC_000004.12:g.95152726A>C	gnomAD
BMPR1B	O00238	p.Lys447Arg	rs371436999	missense variant	-	NC_000004.12:g.95152730A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro451Ser	rs1321058552	missense variant	-	NC_000004.12:g.95152741C>T	TOPMed
BMPR1B	O00238	p.Asn455His	rs756258100	missense variant	-	NC_000004.12:g.95152753A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Leu	rs140047318	missense variant	-	NC_000004.12:g.95152757G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Pro	rs140047318	missense variant	-	NC_000004.12:g.95152757G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gly	rs780280883	missense variant	-	NC_000004.12:g.95152756C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gln	rs140047318	missense variant	-	NC_000004.12:g.95152757G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Trp	rs780280883	missense variant	-	NC_000004.12:g.95152756C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser458Asn	rs1260383981	missense variant	-	NC_000004.12:g.95152763G>A	gnomAD
BMPR1B	O00238	p.Ser459Gly	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>G	gnomAD
BMPR1B	O00238	p.Ser459Arg	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>C	gnomAD
BMPR1B	O00238	p.Ser459Asn	rs1190153129	missense variant	-	NC_000004.12:g.95152766G>A	gnomAD
BMPR1B	O00238	p.Glu461Lys	rs1367092167	missense variant	-	NC_000004.12:g.95152771G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Cys462Phe	rs766596192	missense variant	-	NC_000004.12:g.95154549G>T	ExAC,gnomAD
BMPR1B	O00238	p.Cys462Tyr	rs766596192	missense variant	-	NC_000004.12:g.95154549G>A	ExAC,gnomAD
BMPR1B	O00238	p.Arg464Ser	rs1308433194	missense variant	-	NC_000004.12:g.95154556G>T	gnomAD
BMPR1B	O00238	p.Gln465Arg	rs369609245	missense variant	-	NC_000004.12:g.95154558A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met466Leu	rs778929099	missense variant	-	NC_000004.12:g.95154560A>T	ExAC,gnomAD
BMPR1B	O00238	p.Gly467Ala	rs1305848208	missense variant	-	NC_000004.12:g.95154564G>C	gnomAD
BMPR1B	O00238	p.Met470Thr	rs1234757133	missense variant	-	NC_000004.12:g.95154573T>C	gnomAD
BMPR1B	O00238	p.Thr471Ala	rs752827445	missense variant	-	NC_000004.12:g.95154575A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala479Val	rs1241726567	missense variant	-	NC_000004.12:g.95154600C>T	TOPMed
BMPR1B	O00238	p.Ala479Ser	rs746760963	missense variant	-	NC_000004.12:g.95154599G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala479Thr	rs746760963	missense variant	-	NC_000004.12:g.95154599G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr483Ile	RCV000444497	missense variant	-	NC_000004.12:g.95154612C>T	ClinVar
BMPR1B	O00238	p.Thr483Ala	rs1435017955	missense variant	-	NC_000004.12:g.95154611A>G	gnomAD
BMPR1B	O00238	p.Thr483Ile	rs1057521819	missense variant	-	NC_000004.12:g.95154612C>T	-
BMPR1B	O00238	p.Ala484Val	rs1394503432	missense variant	-	NC_000004.12:g.95154615C>T	gnomAD
BMPR1B	O00238	p.Ala484Ser	rs769339843	missense variant	-	NC_000004.12:g.95154614G>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg486Trp	RCV000006934	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154620C>T	ClinVar
BMPR1B	O00238	p.Arg486Gln	RCV000006936	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154621G>A	ClinVar
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	-	NC_000004.12:g.95154621G>A	-
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Gln	VAR_037967	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Trp	VAR_023820	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	-	NC_000004.12:g.95154620C>T	-
BMPR1B	O00238	p.Val487Ile	rs369899177	missense variant	-	NC_000004.12:g.95154623G>A	ESP
BMPR1B	O00238	p.Leu491Val	rs748806114	missense variant	-	NC_000004.12:g.95154635C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ser497Ala	rs1460265958	missense variant	-	NC_000004.12:g.95154653T>G	gnomAD
BMPR1B	O00238	p.Gln498Arg	rs773752951	missense variant	-	NC_000004.12:g.95154657A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln498Ter	rs1297303851	stop gained	-	NC_000004.12:g.95154656C>T	gnomAD
BMPR1B	O00238	p.Ile500Val	rs1300655982	missense variant	-	NC_000004.12:g.95154662A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile500Thr	rs761009116	missense variant	-	NC_000004.12:g.95154663T>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys501Thr	rs766714132	missense variant	-	NC_000004.12:g.95154666A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Arg	rs766714132	missense variant	-	NC_000004.12:g.95154666A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Glu	rs1229797838	missense variant	-	NC_000004.12:g.95154665A>G	TOPMed,gnomAD
BMPR1B	O00238	p.LeuTer502LeuUnk	rs1443065466	stop lost	-	NC_000004.12:g.95154670_95154671del	TOPMed
BMPR1B	O00238	p.Arg4Gln	rs150974461	missense variant	-	NC_000004.12:g.95104435G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg4Pro	rs150974461	missense variant	-	NC_000004.12:g.95104435G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser5Arg	rs1466418430	missense variant	-	NC_000004.12:g.95104439T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ala6Thr	rs143885868	missense variant	-	NC_000004.12:g.95104440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly7Arg	rs1279515650	missense variant	-	NC_000004.12:g.95104443G>A	TOPMed
BMPR1B	O00238	p.Thr13Ile	rs1374698890	missense variant	-	NC_000004.12:g.95104462C>T	TOPMed
BMPR1B	O00238	p.Lys14Gln	rs763496728	missense variant	-	NC_000004.12:g.95104464A>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys15Glu	rs1346115955	missense variant	-	NC_000004.12:g.95104467A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Glu19Asp	rs773850751	missense variant	-	NC_000004.12:g.95104481G>C	ExAC,gnomAD
BMPR1B	O00238	p.Ser20Gly	rs1281247073	missense variant	-	NC_000004.12:g.95104482A>G	gnomAD
BMPR1B	O00238	p.Thr21Ile	rs190883013	missense variant	-	NC_000004.12:g.95104486C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr24Ala	RCV000425791	missense variant	-	NC_000004.12:g.95104494A>G	ClinVar
BMPR1B	O00238	p.Thr24Ile	rs912115035	missense variant	-	NC_000004.12:g.95104495C>T	-
BMPR1B	O00238	p.Thr24Ala	rs754365645	missense variant	-	NC_000004.12:g.95104494A>G	ExAC,gnomAD
BMPR1B	O00238	p.Pro25His	rs145700191	missense variant	-	NC_000004.12:g.95104498C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro25Arg	rs145700191	missense variant	-	NC_000004.12:g.95104498C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26Pro	rs377000102	missense variant	-	NC_000004.12:g.95104501G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26Cys	rs758706811	missense variant	-	NC_000004.12:g.95104500C>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg26His	rs377000102	missense variant	-	NC_000004.12:g.95104501G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro27Arg	RCV000625922	missense variant	Primary pulmonary hypertension 3 (PPH3)	NC_000004.12:g.95104504C>G	ClinVar
BMPR1B	O00238	p.Pro27Arg	rs757312834	missense variant	-	NC_000004.12:g.95104504C>G	ExAC,gnomAD
BMPR1B	O00238	p.Val29Phe	rs773417270	missense variant	-	NC_000004.12:g.95104509G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	RCV000201128	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	ClinVar
BMPR1B	O00238	p.Arg31His	RCV000263624	missense variant	Brachydactyly	NC_000004.12:g.95104516G>A	ClinVar
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg31His	VAR_041401	missense variant	-	NC_000004.12:g.95104516G>A	UniProt
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Ser	rs745854387	missense variant	-	NC_000004.12:g.95104515C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	-	NC_000004.12:g.95104515C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg31Cys	VAR_075520	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt
BMPR1B	O00238	p.His37Tyr	rs1409575151	missense variant	-	NC_000004.12:g.95104533C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Glu40Gly	rs1381581400	missense variant	-	NC_000004.12:g.95104543A>G	TOPMed
BMPR1B	O00238	p.Asp41Tyr	rs775495653	missense variant	-	NC_000004.12:g.95104545G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn45Tyr	rs749047942	missense variant	-	NC_000004.12:g.95104557A>T	ExAC,gnomAD
BMPR1B	O00238	p.Asn45Asp	rs749047942	missense variant	-	NC_000004.12:g.95104557A>G	ExAC,gnomAD
BMPR1B	O00238	p.Gly51Val	rs1245250823	missense variant	-	NC_000004.12:g.95114728G>T	gnomAD
BMPR1B	O00238	p.Cys53Arg	RCV000201167	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95114733T>C	ClinVar
BMPR1B	O00238	p.Cys53Arg	rs863225041	missense variant	-	NC_000004.12:g.95114733T>C	-
BMPR1B	O00238	p.Thr55Met	rs1033648877	missense variant	-	NC_000004.12:g.95114740C>T	gnomAD
BMPR1B	O00238	p.Met56Thr	rs1191790811	missense variant	-	NC_000004.12:g.95114743T>C	TOPMed
BMPR1B	O00238	p.Ile57Val	rs1470243376	missense variant	-	NC_000004.12:g.95114745A>G	TOPMed
BMPR1B	O00238	p.Ile57Thr	rs1364478234	missense variant	-	NC_000004.12:g.95114746T>C	gnomAD
BMPR1B	O00238	p.Asp61Ala	RCV000596072	missense variant	-	NC_000004.12:g.95114758A>C	ClinVar
BMPR1B	O00238	p.Asp61Ala	rs1553939371	missense variant	-	NC_000004.12:g.95114758A>C	-
BMPR1B	O00238	p.Val66Met	rs1176860852	missense variant	-	NC_000004.12:g.95114772G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ser77Ala	rs200702974	missense variant	-	NC_000004.12:g.95114805T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Ala	rs140970485	missense variant	-	NC_000004.12:g.95115686A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Asn	rs369807264	missense variant	-	NC_000004.12:g.95115685G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Val	rs140970485	missense variant	-	NC_000004.12:g.95115686A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83His	rs369807264	missense variant	-	NC_000004.12:g.95115685G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Gly	rs140970485	missense variant	-	NC_000004.12:g.95115686A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Tyr	rs369807264	missense variant	-	NC_000004.12:g.95115685G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Glu	rs890305622	missense variant	-	NC_000004.12:g.95115687C>A	TOPMed
BMPR1B	O00238	p.Thr84Ala	rs192392906	missense variant	-	NC_000004.12:g.95115688A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr84Ile	rs200083866	missense variant	-	NC_000004.12:g.95115689C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr84Ser	rs192392906	missense variant	-	NC_000004.12:g.95115688A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Pro85Arg	rs767805662	missense variant	-	NC_000004.12:g.95115692C>G	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Ser	rs762270033	missense variant	-	NC_000004.12:g.95115691C>T	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Leu	rs767805662	missense variant	-	NC_000004.12:g.95115692C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile86Phe	rs1200081382	missense variant	-	NC_000004.12:g.95115694A>T	gnomAD
BMPR1B	O00238	p.Gln89His	rs558142045	missense variant	-	NC_000004.12:g.95115705A>T	1000Genomes
BMPR1B	O00238	p.Arg90Lys	rs1486216727	missense variant	-	NC_000004.12:g.95115707G>A	gnomAD
BMPR1B	O00238	p.Arg91Ile	rs376183647	missense variant	-	NC_000004.12:g.95115710G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu94Ala	rs139161475	missense variant	-	NC_000004.12:g.95115719A>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu94Lys	rs200886063	missense variant	-	NC_000004.12:g.95115718G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu94Val	rs139161475	missense variant	-	NC_000004.12:g.95115719A>T	ExAC,gnomAD
BMPR1B	O00238	p.Thr97Ala	RCV000304200	missense variant	-	NC_000004.12:g.95115727A>G	ClinVar
BMPR1B	O00238	p.Thr97Arg	rs151289886	missense variant	-	NC_000004.12:g.95115728C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ser	rs759423600	missense variant	-	NC_000004.12:g.95115727A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Lys	rs151289886	missense variant	-	NC_000004.12:g.95115728C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ile	rs151289886	missense variant	-	NC_000004.12:g.95115728C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ala	rs759423600	missense variant	-	NC_000004.12:g.95115727A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His107Leu	rs746713318	missense variant	-	NC_000004.12:g.95115758A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr109Ile	rs1386616728	missense variant	-	NC_000004.12:g.95115764C>T	gnomAD
BMPR1B	O00238	p.Pro112Ser	rs1225550138	missense variant	-	NC_000004.12:g.95115772C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Asp117Asn	rs571763786	missense variant	-	NC_000004.12:g.95115787G>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Phe118Leu	rs1185014709	missense variant	-	NC_000004.12:g.95123812T>C	gnomAD
BMPR1B	O00238	p.Val119Gly	rs541202129	missense variant	-	NC_000004.12:g.95123816T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Asp120Asn	rs1422671894	missense variant	-	NC_000004.12:g.95123818G>A	gnomAD
BMPR1B	O00238	p.Gly121Ter	RCV000006935	frameshift	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95123821_95123828del	ClinVar
BMPR1B	O00238	p.His124Arg	rs1397484175	missense variant	-	NC_000004.12:g.95123831A>G	TOPMed
BMPR1B	O00238	p.His124Tyr	rs759803347	missense variant	-	NC_000004.12:g.95123830C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg126Lys	rs1366056747	missense variant	-	NC_000004.12:g.95123837G>A	gnomAD
BMPR1B	O00238	p.Leu129Phe	rs755669488	missense variant	-	NC_000004.12:g.95123845C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ser131Thr	rs561117066	missense variant	-	NC_000004.12:g.95123851T>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Val132Leu	rs931491708	missense variant	-	NC_000004.12:g.95123854G>T	TOPMed
BMPR1B	O00238	p.Val132Gly	rs150002205	missense variant	-	NC_000004.12:g.95123855T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr133Pro	rs772559135	missense variant	-	NC_000004.12:g.95123857A>C	ExAC
BMPR1B	O00238	p.Val134Ile	rs747412096	missense variant	-	NC_000004.12:g.95123860G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val134Ala	rs1392029669	missense variant	-	NC_000004.12:g.95123861T>C	gnomAD
BMPR1B	O00238	p.Cys135Gly	rs145201971	missense variant	-	NC_000004.12:g.95123863T>G	ESP,ExAC,TOPMed
BMPR1B	O00238	p.Leu139Phe	rs1250134332	missense variant	-	NC_000004.12:g.95123877G>T	TOPMed
BMPR1B	O00238	p.Leu139Met	rs1324227207	missense variant	-	NC_000004.12:g.95123875T>A	TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	rs138801821	missense variant	-	NC_000004.12:g.95123878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	RCV000202696	missense variant	-	NC_000004.12:g.95123878G>A	ClinVar
BMPR1B	O00238	p.Leu141Val	rs1346621381	missense variant	-	NC_000004.12:g.95123881C>G	gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg149Trp	RCV000333918	missense variant	Brachydactyly	NC_000004.12:g.95123905C>T	ClinVar
BMPR1B	O00238	p.Arg149Trp	rs34231464	missense variant	-	NC_000004.12:g.95123905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln153Arg	rs1197682678	missense variant	-	NC_000004.12:g.95124994A>G	gnomAD
BMPR1B	O00238	p.Glu154Lys	rs1172006396	missense variant	-	NC_000004.12:g.95124996G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr155Asn	rs140360809	missense variant	-	NC_000004.12:g.95125000C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg156Thr	rs769863111	missense variant	-	NC_000004.12:g.95125003G>C	ExAC,gnomAD
BMPR1B	O00238	p.Pro157Ser	RCV000424734	missense variant	-	NC_000004.12:g.95125005C>T	ClinVar
BMPR1B	O00238	p.Pro157Ser	rs779609471	missense variant	-	NC_000004.12:g.95125005C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro157Thr	rs779609471	missense variant	-	NC_000004.12:g.95125005C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg158Gly	rs774364369	missense variant	-	NC_000004.12:g.95125008C>G	ExAC,gnomAD
BMPR1B	O00238	p.Arg158Gln	rs761486688	missense variant	-	NC_000004.12:g.95125009G>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr159Asp	rs1366100450	missense variant	-	NC_000004.12:g.95125011T>G	gnomAD
BMPR1B	O00238	p.Ser160Asn	rs149589961	missense variant	-	NC_000004.12:g.95125015G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser160Cys	rs750037039	missense variant	-	NC_000004.12:g.95125014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile161Ser	rs766140919	missense variant	-	NC_000004.12:g.95125018T>G	ExAC,gnomAD
BMPR1B	O00238	p.Leu163Ile	rs1438025940	missense variant	-	NC_000004.12:g.95125023T>A	TOPMed
BMPR1B	O00238	p.Glu164Lys	rs754565613	missense variant	-	NC_000004.12:g.95125026G>A	ExAC,gnomAD
BMPR1B	O00238	p.Glu164Gln	rs754565613	missense variant	-	NC_000004.12:g.95125026G>C	ExAC,gnomAD
BMPR1B	O00238	p.Asp166Ala	rs781670372	missense variant	-	NC_000004.12:g.95125033A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166His	rs752156962	missense variant	-	NC_000004.12:g.95125032G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Asn	rs752156962	missense variant	-	NC_000004.12:g.95125032G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Val	rs781670372	missense variant	-	NC_000004.12:g.95125033A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu167Ala	rs1490974342	missense variant	-	NC_000004.12:g.95125036A>C	gnomAD
BMPR1B	O00238	p.Thr168Ser	rs373998952	missense variant	-	NC_000004.12:g.95125039C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Tyr169Ser	rs769948288	missense variant	-	NC_000004.12:g.95125042A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Val	rs778170724	missense variant	-	NC_000004.12:g.95125044A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Ser	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Thr	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Phe	rs778170724	missense variant	-	NC_000004.12:g.95125044A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Met	rs768768926	missense variant	-	NC_000004.12:g.95125046T>G	ExAC,gnomAD
BMPR1B	O00238	p.Ser175Pro	rs143554488	missense variant	-	NC_000004.12:g.95125059T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Ala	rs143554488	missense variant	-	NC_000004.12:g.95125059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Phe	rs367777041	missense variant	-	NC_000004.12:g.95125060C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Cys	rs367777041	missense variant	-	NC_000004.12:g.95125060C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu176Val	rs1337920731	missense variant	-	NC_000004.12:g.95125062C>G	TOPMed
BMPR1B	O00238	p.Leu176Pro	rs771747962	missense variant	-	NC_000004.12:g.95125063T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg177Gly	rs773000162	missense variant	-	NC_000004.12:g.95125065A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp178Asn	rs1442468616	missense variant	-	NC_000004.12:g.95125068G>A	gnomAD
BMPR1B	O00238	p.Leu179Ser	rs911866039	missense variant	-	NC_000004.12:g.95125072T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Leu179Phe	rs766089514	missense variant	-	NC_000004.12:g.95125073A>C	ExAC,gnomAD
BMPR1B	O00238	p.Ile180Asn	rs776445882	missense variant	-	NC_000004.12:g.95125075T>A	ExAC
BMPR1B	O00238	p.Ile180Thr	rs776445882	missense variant	-	NC_000004.12:g.95125075T>C	ExAC
BMPR1B	O00238	p.Gln182Arg	rs1384205404	missense variant	-	NC_000004.12:g.95125081A>G	TOPMed
BMPR1B	O00238	p.Gln182His	rs1362547455	missense variant	-	NC_000004.12:g.95125082G>T	gnomAD
BMPR1B	O00238	p.Ser183Pro	RCV000664165	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000004.12:g.95125083T>C	ClinVar
BMPR1B	O00238	p.Ser183Thr	rs141691706	missense variant	-	NC_000004.12:g.95125083T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser183Pro	rs141691706	missense variant	-	NC_000004.12:g.95125083T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly187Ala	rs200839585	missense variant	-	NC_000004.12:g.95125096G>C	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Leu194Val	rs757843329	missense variant	-	NC_000004.12:g.95125116C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Pro	rs767925715	missense variant	-	NC_000004.12:g.95125117T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Arg	rs767925715	missense variant	-	NC_000004.12:g.95125117T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Gln	rs767925715	missense variant	-	NC_000004.12:g.95125117T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile200Lys	RCV000006933	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129875T>A	ClinVar
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	-	NC_000004.12:g.95129875T>A	-
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt,dbSNP
BMPR1B	O00238	p.Ile200Lys	VAR_023819	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt
BMPR1B	O00238	p.Ile200Val	rs750954022	missense variant	-	NC_000004.12:g.95129874A>G	ExAC,gnomAD
BMPR1B	O00238	p.Lys202Arg	rs185062260	missense variant	-	NC_000004.12:g.95129881A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Lys202Arg	RCV000766164	missense variant	-	NC_000004.12:g.95129881A>G	ClinVar
BMPR1B	O00238	p.Gln205Glu	rs766791531	missense variant	-	NC_000004.12:g.95129889C>G	ExAC,gnomAD
BMPR1B	O00238	p.Met206Val	rs1344379581	missense variant	-	NC_000004.12:g.95129892A>G	TOPMed
BMPR1B	O00238	p.Lys208Gln	rs1260652488	missense variant	-	NC_000004.12:g.95129898A>C	gnomAD
BMPR1B	O00238	p.Gln209Glu	rs1299044974	missense variant	-	NC_000004.12:g.95129901C>G	TOPMed
BMPR1B	O00238	p.Gln209Pro	rs1176798119	missense variant	-	NC_000004.12:g.95129902A>C	gnomAD
BMPR1B	O00238	p.Ile210Val	rs754044696	missense variant	-	NC_000004.12:g.95129904A>G	ExAC,gnomAD
BMPR1B	O00238	p.Arg214Ser	rs1553941890	missense variant	-	NC_000004.12:g.95129916C>A	-
BMPR1B	O00238	p.Arg214His	rs755131943	missense variant	-	NC_000004.12:g.95129917G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg214Ser	RCV000519599	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129916C>A	ClinVar
BMPR1B	O00238	p.Gly216Ala	rs779006691	missense variant	-	NC_000004.12:g.95129923G>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu217Lys	rs748217063	missense variant	-	NC_000004.12:g.95129925G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val218Asp	rs1303785017	missense variant	-	NC_000004.12:g.95129929T>A	TOPMed
BMPR1B	O00238	p.Trp219Ter	RCV000201044	nonsense	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95129933G>A	ClinVar
BMPR1B	O00238	p.Trp219Ter	rs863225042	stop gained	-	NC_000004.12:g.95129933G>A	-
BMPR1B	O00238	p.Lys222Glu	rs758429876	missense variant	-	NC_000004.12:g.95129940A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys222Thr	rs957165736	missense variant	-	NC_000004.12:g.95129941A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Trp223Cys	rs1295971366	missense variant	-	NC_000004.12:g.95129945G>C	TOPMed
BMPR1B	O00238	p.Arg224His	RCV000386085	missense variant	Brachydactyly	NC_000004.12:g.95129947G>A	ClinVar
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg224His	VAR_041403	missense variant	-	NC_000004.12:g.95129947G>A	UniProt
BMPR1B	O00238	p.Arg224Leu	rs35973133	missense variant	-	NC_000004.12:g.95129947G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224Cys	rs777745046	missense variant	-	NC_000004.12:g.95129946C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Asn	rs1200045028	missense variant	-	NC_000004.12:g.95129957G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Gln	rs574398307	missense variant	-	NC_000004.12:g.95129955A>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Glu	rs574398307	missense variant	-	NC_000004.12:g.95129955A>G	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Met	rs372556235	missense variant	-	NC_000004.12:g.95129956A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val228Ile	rs745674753	missense variant	-	NC_000004.12:g.95129958G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ala229Val	rs769423606	missense variant	-	NC_000004.12:g.95129962C>T	ExAC,gnomAD
BMPR1B	O00238	p.Lys231Ter	rs1207219833	stop gained	-	NC_000004.12:g.95129967A>T	gnomAD
BMPR1B	O00238	p.Phe234Leu	rs536641256	missense variant	-	NC_000004.12:g.95129978C>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr236Ala	rs1468067202	missense variant	-	NC_000004.12:g.95129982A>G	gnomAD
BMPR1B	O00238	p.Ala239Ser	rs773700021	missense variant	-	NC_000004.12:g.95129991G>T	ExAC,gnomAD
BMPR1B	O00238	p.Phe242Ser	rs754133041	missense variant	-	NC_000004.12:g.95130001T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Tyr	rs754133041	missense variant	-	NC_000004.12:g.95130001T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs761226009	missense variant	-	NC_000004.12:g.95130000T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ile	rs761226009	missense variant	-	NC_000004.12:g.95130000T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Val	rs761226009	missense variant	-	NC_000004.12:g.95130000T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Cys	rs754133041	missense variant	-	NC_000004.12:g.95130001T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	RCV000328112	missense variant	Brachydactyly	NC_000004.12:g.95130004G>A	ClinVar
BMPR1B	O00238	p.Arg243Ser	rs1306782325	missense variant	-	NC_000004.12:g.95130005A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	rs886059731	missense variant	-	NC_000004.12:g.95130004G>A	gnomAD
BMPR1B	O00238	p.Arg243Gly	rs755476693	missense variant	-	NC_000004.12:g.95130003A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Arg	rs751532146	missense variant	-	NC_000004.12:g.95130010C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Lys	rs751532146	missense variant	-	NC_000004.12:g.95130010C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Lys	rs369168607	missense variant	-	NC_000004.12:g.95130012G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Ala	rs779737736	missense variant	-	NC_000004.12:g.95130013A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Asp	rs748957679	missense variant	-	NC_000004.12:g.95130014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Glu246Gln	rs369168607	missense variant	-	NC_000004.12:g.95130012G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Val	rs779737736	missense variant	-	NC_000004.12:g.95130013A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Gly	rs779737736	missense variant	-	NC_000004.12:g.95130013A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile247Met	rs1270927104	missense variant	-	NC_000004.12:g.95130017A>G	gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Ter	rs142696562	stop gained	-	NC_000004.12:g.95130021C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Glu	rs142696562	missense variant	-	NC_000004.12:g.95130021C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Leu	rs187868598	missense variant	-	NC_000004.12:g.95130022A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Gln249Arg	rs187868598	missense variant	-	NC_000004.12:g.95130022A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr250Ile	rs771385869	missense variant	-	NC_000004.12:g.95130025C>T	ExAC,gnomAD
BMPR1B	O00238	p.Thr250Pro	rs1223084316	missense variant	-	NC_000004.12:g.95130024A>C	gnomAD
BMPR1B	O00238	p.Val251Gly	rs1463003460	missense variant	-	NC_000004.12:g.95130028T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Leu	rs948475886	missense variant	-	NC_000004.12:g.95130033A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Thr	rs1044164391	missense variant	-	NC_000004.12:g.95130034T>C	gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	rs200198618	missense variant	-	NC_000004.12:g.95130038G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	RCV000384921	missense variant	Brachydactyly	NC_000004.12:g.95130038G>T	ClinVar
BMPR1B	O00238	p.Asn257Asp	rs201034260	missense variant	-	NC_000004.12:g.95130045A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn257Asp	RCV000480897	missense variant	-	NC_000004.12:g.95130045A>G	ClinVar
BMPR1B	O00238	p.Ile258Val	rs1473660478	missense variant	-	NC_000004.12:g.95130048A>G	TOPMed
BMPR1B	O00238	p.Gly260Asp	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Gly260Val	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Phe261Tyr	rs375308110	missense variant	-	NC_000004.12:g.95131218T>A	ESP,ExAC
BMPR1B	O00238	p.Ile262Val	rs761965542	missense variant	-	NC_000004.12:g.95131220A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Ser	rs767750336	missense variant	-	NC_000004.12:g.95131226G>T	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Thr	rs767750336	missense variant	-	NC_000004.12:g.95131226G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ile266Val	rs1267095165	missense variant	-	NC_000004.12:g.95131232A>G	gnomAD
BMPR1B	O00238	p.Gly270Glu	rs750357066	missense variant	-	NC_000004.12:g.95131245G>A	ExAC,gnomAD
BMPR1B	O00238	p.Gln274Glu	rs1183108551	missense variant	-	NC_000004.12:g.95131256C>G	gnomAD
BMPR1B	O00238	p.Gln274His	rs1414676286	missense variant	-	NC_000004.12:g.95131258G>C	gnomAD
BMPR1B	O00238	p.Leu277Val	rs755942515	missense variant	-	NC_000004.12:g.95131265C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr279Ile	rs147336783	missense variant	-	NC_000004.12:g.95131272C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp280Asn	rs551370449	missense variant	-	NC_000004.12:g.95131274G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp280Glu	rs1401526219	missense variant	-	NC_000004.12:g.95131276C>G	gnomAD
BMPR1B	O00238	p.Tyr281Cys	rs1395395990	missense variant	-	NC_000004.12:g.95131278A>G	TOPMed,gnomAD
BMPR1B	O00238	p.His282Gln	rs371779248	missense variant	-	NC_000004.12:g.95131282T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His282Tyr	rs556937566	missense variant	-	NC_000004.12:g.95131280C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly285Asp	rs1226334806	missense variant	-	NC_000004.12:g.95131290G>A	gnomAD
BMPR1B	O00238	p.Leu287Val	rs1478767431	missense variant	-	NC_000004.12:g.95131295C>G	TOPMed
BMPR1B	O00238	p.Tyr288His	rs746544755	missense variant	-	NC_000004.12:g.95131298T>C	ExAC,gnomAD
BMPR1B	O00238	p.Tyr288Asn	rs746544755	missense variant	-	NC_000004.12:g.95131298T>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr290His	rs770135176	missense variant	-	NC_000004.12:g.95131304T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys292Asn	rs1180765631	missense variant	-	NC_000004.12:g.95131312G>T	TOPMed
BMPR1B	O00238	p.Lys292Arg	rs1001539320	missense variant	-	NC_000004.12:g.95131311A>G	gnomAD
BMPR1B	O00238	p.Ser293Cys	rs1206508270	missense variant	-	NC_000004.12:g.95131314C>G	gnomAD
BMPR1B	O00238	p.Thr294Ser	rs1471841789	missense variant	-	NC_000004.12:g.95131317C>G	gnomAD
BMPR1B	O00238	p.Thr295Ile	rs1481774294	missense variant	-	NC_000004.12:g.95131320C>T	TOPMed
BMPR1B	O00238	p.Asp297His	rs1205132180	missense variant	-	NC_000004.12:g.95131325G>C	TOPMed
BMPR1B	O00238	p.Asp297Gly	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>G	gnomAD
BMPR1B	O00238	p.Asp297Ala	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>C	gnomAD
BMPR1B	O00238	p.Asp297Glu	rs112111860	missense variant	-	NC_000004.12:g.95131327C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp297Asn	VAR_041404	Missense	-	-	UniProt
BMPR1B	O00238	p.Ala298Thr	rs373000965	missense variant	-	NC_000004.12:g.95131328G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Arg	rs773095683	missense variant	-	NC_000004.12:g.95131332A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Glu	rs762320529	missense variant	-	NC_000004.12:g.95131331A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Asn	rs760837301	missense variant	-	NC_000004.12:g.95131333A>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys299Gln	rs762320529	missense variant	-	NC_000004.12:g.95131331A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met301Val	rs199613098	missense variant	-	NC_000004.12:g.95131337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met301Ile	rs753862322	missense variant	-	NC_000004.12:g.95131339G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys303Gln	rs370428276	missense variant	-	NC_000004.12:g.95131343A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala305Thr	rs765766633	missense variant	-	NC_000004.12:g.95131349G>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr306Cys	rs1228462504	missense variant	-	NC_000004.12:g.95131353A>G	gnomAD
BMPR1B	O00238	p.Val309Ile	rs757988979	missense variant	-	NC_000004.12:g.95131361G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ser310Gly	rs777487568	missense variant	-	NC_000004.12:g.95131364A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr317Ile	rs1358949370	missense variant	-	NC_000004.12:g.95131386C>T	TOPMed
BMPR1B	O00238	p.Glu318Gln	rs750995828	missense variant	-	NC_000004.12:g.95131388G>C	ExAC,gnomAD
BMPR1B	O00238	p.Phe320Ser	rs756816303	missense variant	-	NC_000004.12:g.95131395T>C	ExAC,gnomAD
BMPR1B	O00238	p.Thr322Ile	rs1332563913	missense variant	-	NC_000004.12:g.95131401C>T	TOPMed
BMPR1B	O00238	p.Lys325Asn	RCV000208782	missense variant	Brachydactyly, type a1, d (BDA1D)	NC_000004.12:g.95131411A>C	ClinVar
BMPR1B	O00238	p.Lys325Asn	rs869025614	missense variant	-	NC_000004.12:g.95131411A>C	-
BMPR1B	O00238	p.Ala327Thr	rs141032424	missense variant	-	NC_000004.12:g.95131415G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala327Ser	rs141032424	missense variant	-	NC_000004.12:g.95131415G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala327Val	rs1157918508	missense variant	-	NC_000004.12:g.95131416C>T	TOPMed
BMPR1B	O00238	p.Ile328Val	rs1170531805	missense variant	-	NC_000004.12:g.95131418A>G	gnomAD
BMPR1B	O00238	p.Ala329Val	rs1471363374	missense variant	-	NC_000004.12:g.95131422C>T	TOPMed
BMPR1B	O00238	p.His330Tyr	rs1177728492	missense variant	-	NC_000004.12:g.95131424C>T	TOPMed
BMPR1B	O00238	p.Arg331Gln	rs1427765668	missense variant	-	NC_000004.12:g.95131428G>A	gnomAD
BMPR1B	O00238	p.Arg331Gly	rs376126706	missense variant	-	NC_000004.12:g.95131427C>G	ESP,ExAC,gnomAD
BMPR1B	O00238	p.Leu333Val	rs978472184	missense variant	-	NC_000004.12:g.95131433C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Leu	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Val	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Val340Met	rs779359224	missense variant	-	NC_000004.12:g.95131454G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys341Met	rs1438345481	missense variant	-	NC_000004.12:g.95131458A>T	gnomAD
BMPR1B	O00238	p.Lys342Glu	rs748524936	missense variant	-	NC_000004.12:g.95131460A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys342Gln	rs748524936	missense variant	-	NC_000004.12:g.95131460A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn343Asp	rs1264056613	missense variant	-	NC_000004.12:g.95131463A>G	TOPMed
BMPR1B	O00238	p.Thr345Ser	rs773503299	missense variant	-	NC_000004.12:g.95131470C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile348Val	rs1339367828	missense variant	-	NC_000004.12:g.95131478A>G	gnomAD
BMPR1B	O00238	p.Val355Leu	rs1224854340	missense variant	-	NC_000004.12:g.95131499G>C	TOPMed
BMPR1B	O00238	p.Lys356Thr	rs1282921509	missense variant	-	NC_000004.12:g.95131503A>C	TOPMed
BMPR1B	O00238	p.Phe357Cys	rs528180688	missense variant	-	NC_000004.12:g.95131506T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ile358Val	rs1454953723	missense variant	-	NC_000004.12:g.95131508A>G	TOPMed
BMPR1B	O00238	p.Ser359Gly	rs201289177	missense variant	-	NC_000004.12:g.95131511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp360Gly	rs763992306	missense variant	-	NC_000004.12:g.95148750A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr361Lys	rs1416896677	missense variant	-	NC_000004.12:g.95148753C>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr361Ala	rs1179983257	missense variant	-	NC_000004.12:g.95148752A>G	gnomAD
BMPR1B	O00238	p.Val364Phe	rs1416959162	missense variant	-	NC_000004.12:g.95148761G>T	gnomAD
BMPR1B	O00238	p.Val364Ala	rs773874757	missense variant	-	NC_000004.12:g.95148762T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp365Val	rs1385960904	missense variant	-	NC_000004.12:g.95148765A>T	gnomAD
BMPR1B	O00238	p.Asp365Glu	rs1456285512	missense variant	-	NC_000004.12:g.95148766C>A	gnomAD
BMPR1B	O00238	p.Asp365Asn	rs761588488	missense variant	-	NC_000004.12:g.95148764G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ile366Val	rs767077000	missense variant	-	NC_000004.12:g.95148767A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile366Arg	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile366Thr	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Arg	rs1284054241	missense variant	-	NC_000004.12:g.95148771C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Ser	rs148550671	missense variant	-	NC_000004.12:g.95148770C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Thr	rs148550671	missense variant	-	NC_000004.12:g.95148770C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Ser	RCV000379873	missense variant	Brachydactyly	NC_000004.12:g.95148773C>T	ClinVar
BMPR1B	O00238	p.Pro368Arg	rs1286747826	missense variant	-	NC_000004.12:g.95148774C>G	gnomAD
BMPR1B	O00238	p.Pro368Ser	rs577188671	missense variant	-	NC_000004.12:g.95148773C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn369Ser	rs747347346	missense variant	-	NC_000004.12:g.95148777A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn369Asp	rs778257341	missense variant	-	NC_000004.12:g.95148776A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn369Asp	RCV000283012	missense variant	Brachydactyly	NC_000004.12:g.95148776A>G	ClinVar
BMPR1B	O00238	p.Thr370Ile	rs781424907	missense variant	-	NC_000004.12:g.95148780C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr370Ser	rs757434006	missense variant	-	NC_000004.12:g.95148779A>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg371Leu	RCV000340460	missense variant	Brachydactyly	NC_000004.12:g.95148783G>T	ClinVar
BMPR1B	O00238	p.Arg371Gln	RCV000685866	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95148783G>A	ClinVar
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg371Gln	VAR_041405	missense variant	-	NC_000004.12:g.95148783G>A	UniProt
BMPR1B	O00238	p.Arg371Pro	rs34970181	missense variant	-	NC_000004.12:g.95148783G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Leu	rs34970181	missense variant	-	NC_000004.12:g.95148783G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg376Cys	rs768328319	missense variant	-	NC_000004.12:g.95148797C>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr377Cys	rs559805218	missense variant	-	NC_000004.12:g.95148801A>G	1000Genomes
BMPR1B	O00238	p.Met378Arg	rs1292399504	missense variant	-	NC_000004.12:g.95148804T>G	TOPMed
BMPR1B	O00238	p.Ser386Thr	rs1204148833	missense variant	-	NC_000004.12:g.95148828G>C	gnomAD
BMPR1B	O00238	p.Leu387Phe	rs1426672160	missense variant	-	NC_000004.12:g.95148832G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg389Gly	rs760241910	missense variant	-	NC_000004.12:g.95148836A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn390Ser	rs766046737	missense variant	-	NC_000004.12:g.95148840A>G	ExAC,gnomAD
BMPR1B	O00238	p.His391Pro	rs943183996	missense variant	-	NC_000004.12:g.95148843A>C	gnomAD
BMPR1B	O00238	p.His391Arg	rs943183996	missense variant	-	NC_000004.12:g.95148843A>G	gnomAD
BMPR1B	O00238	p.Phe392Val	rs1464900722	missense variant	-	NC_000004.12:g.95148845T>G	TOPMed
BMPR1B	O00238	p.Phe392Leu	rs1412113319	missense variant	-	NC_000004.12:g.95148847C>G	gnomAD
BMPR1B	O00238	p.Phe392Ser	rs753253207	missense variant	-	NC_000004.12:g.95148846T>C	ExAC,gnomAD
BMPR1B	O00238	p.Gln393His	rs758874215	missense variant	-	NC_000004.12:g.95148850G>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr395Ser	rs1350190350	missense variant	-	NC_000004.12:g.95148855A>C	gnomAD
BMPR1B	O00238	p.Met397Val	rs548452438	missense variant	-	NC_000004.12:g.95148860A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ala398Thr	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ala398Ser	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met400Ile	rs1279570525	missense variant	-	NC_000004.12:g.95148871G>A	gnomAD
BMPR1B	O00238	p.Met400Val	rs757593146	missense variant	-	NC_000004.12:g.95148869A>G	ExAC,gnomAD
BMPR1B	O00238	p.Phe403Val	rs1207154351	missense variant	-	NC_000004.12:g.95148878T>G	gnomAD
BMPR1B	O00238	p.Val410Phe	rs746134819	missense variant	-	NC_000004.12:g.95148899G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val410Leu	rs746134819	missense variant	-	NC_000004.12:g.95148899G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala411Thr	rs969503674	missense variant	-	NC_000004.12:g.95148902G>A	TOPMed
BMPR1B	O00238	p.Arg412Lys	rs561948192	missense variant	-	NC_000004.12:g.95148906G>A	1000Genomes,TOPMed
BMPR1B	O00238	p.Arg412Gly	rs1190618723	missense variant	-	NC_000004.12:g.95148905A>G	TOPMed
BMPR1B	O00238	p.Arg413Ser	rs186299744	missense variant	-	NC_000004.12:g.95148910A>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg413Thr	rs780171269	missense variant	-	NC_000004.12:g.95148909G>C	ExAC,gnomAD
BMPR1B	O00238	p.Cys414Arg	rs980823830	missense variant	-	NC_000004.12:g.95148911T>C	TOPMed
BMPR1B	O00238	p.Cys414Tyr	rs1476786316	missense variant	-	NC_000004.12:g.95148912G>A	gnomAD
BMPR1B	O00238	p.Gly418Asp	rs1248109194	missense variant	-	NC_000004.12:g.95152643G>A	gnomAD
BMPR1B	O00238	p.Ile419Thr	rs1450785068	missense variant	-	NC_000004.12:g.95152646T>C	gnomAD
BMPR1B	O00238	p.Val420Ala	rs1249589876	missense variant	-	NC_000004.12:g.95152649T>C	TOPMed
BMPR1B	O00238	p.His428Asp	rs1447783996	missense variant	-	NC_000004.12:g.95152672C>G	TOPMed
BMPR1B	O00238	p.His428Gln	rs1313808319	missense variant	-	NC_000004.12:g.95152674T>A	gnomAD
BMPR1B	O00238	p.Leu430Val	rs1208101811	missense variant	-	NC_000004.12:g.95152678C>G	TOPMed
BMPR1B	O00238	p.Pro432Leu	rs1458772834	missense variant	-	NC_000004.12:g.95152685C>T	gnomAD
BMPR1B	O00238	p.Ser433Asn	rs1165392388	missense variant	-	NC_000004.12:g.95152688G>A	gnomAD
BMPR1B	O00238	p.Pro435Leu	rs985981901	missense variant	-	NC_000004.12:g.95152694C>T	TOPMed
BMPR1B	O00238	p.Met440Leu	rs376221874	missense variant	-	NC_000004.12:g.95152708A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met440Val	rs376221874	missense variant	-	NC_000004.12:g.95152708A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Thr	rs879008149	missense variant	-	NC_000004.12:g.95152712G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Lys	rs879008149	missense variant	-	NC_000004.12:g.95152712G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Met	rs1432975995	missense variant	-	NC_000004.12:g.95152719T>G	gnomAD
BMPR1B	O00238	p.Ile443Thr	rs752045710	missense variant	-	NC_000004.12:g.95152718T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile446Leu	rs1325757207	missense variant	-	NC_000004.12:g.95152726A>C	gnomAD
BMPR1B	O00238	p.Lys447Arg	rs371436999	missense variant	-	NC_000004.12:g.95152730A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro451Ser	rs1321058552	missense variant	-	NC_000004.12:g.95152741C>T	TOPMed
BMPR1B	O00238	p.Asn455His	rs756258100	missense variant	-	NC_000004.12:g.95152753A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gly	rs780280883	missense variant	-	NC_000004.12:g.95152756C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Leu	rs140047318	missense variant	-	NC_000004.12:g.95152757G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Pro	rs140047318	missense variant	-	NC_000004.12:g.95152757G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gln	rs140047318	missense variant	-	NC_000004.12:g.95152757G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Trp	rs780280883	missense variant	-	NC_000004.12:g.95152756C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser458Asn	rs1260383981	missense variant	-	NC_000004.12:g.95152763G>A	gnomAD
BMPR1B	O00238	p.Ser459Gly	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>G	gnomAD
BMPR1B	O00238	p.Ser459Arg	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>C	gnomAD
BMPR1B	O00238	p.Ser459Asn	rs1190153129	missense variant	-	NC_000004.12:g.95152766G>A	gnomAD
BMPR1B	O00238	p.Glu461Lys	rs1367092167	missense variant	-	NC_000004.12:g.95152771G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Cys462Phe	rs766596192	missense variant	-	NC_000004.12:g.95154549G>T	ExAC,gnomAD
BMPR1B	O00238	p.Cys462Tyr	rs766596192	missense variant	-	NC_000004.12:g.95154549G>A	ExAC,gnomAD
BMPR1B	O00238	p.Arg464Ser	rs1308433194	missense variant	-	NC_000004.12:g.95154556G>T	gnomAD
BMPR1B	O00238	p.Gln465Arg	rs369609245	missense variant	-	NC_000004.12:g.95154558A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met466Leu	rs778929099	missense variant	-	NC_000004.12:g.95154560A>T	ExAC,gnomAD
BMPR1B	O00238	p.Gly467Ala	rs1305848208	missense variant	-	NC_000004.12:g.95154564G>C	gnomAD
BMPR1B	O00238	p.Met470Thr	rs1234757133	missense variant	-	NC_000004.12:g.95154573T>C	gnomAD
BMPR1B	O00238	p.Thr471Ala	rs752827445	missense variant	-	NC_000004.12:g.95154575A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala479Ser	rs746760963	missense variant	-	NC_000004.12:g.95154599G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala479Val	rs1241726567	missense variant	-	NC_000004.12:g.95154600C>T	TOPMed
BMPR1B	O00238	p.Ala479Thr	rs746760963	missense variant	-	NC_000004.12:g.95154599G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr483Ile	RCV000444497	missense variant	-	NC_000004.12:g.95154612C>T	ClinVar
BMPR1B	O00238	p.Thr483Ala	rs1435017955	missense variant	-	NC_000004.12:g.95154611A>G	gnomAD
BMPR1B	O00238	p.Thr483Ile	rs1057521819	missense variant	-	NC_000004.12:g.95154612C>T	-
BMPR1B	O00238	p.Ala484Val	rs1394503432	missense variant	-	NC_000004.12:g.95154615C>T	gnomAD
BMPR1B	O00238	p.Ala484Ser	rs769339843	missense variant	-	NC_000004.12:g.95154614G>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg486Gln	RCV000006936	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154621G>A	ClinVar
BMPR1B	O00238	p.Arg486Trp	RCV000006934	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154620C>T	ClinVar
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	-	NC_000004.12:g.95154621G>A	-
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Gln	VAR_037967	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Trp	VAR_023820	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	-	NC_000004.12:g.95154620C>T	-
BMPR1B	O00238	p.Val487Ile	rs369899177	missense variant	-	NC_000004.12:g.95154623G>A	ESP
BMPR1B	O00238	p.Leu491Val	rs748806114	missense variant	-	NC_000004.12:g.95154635C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ser497Ala	rs1460265958	missense variant	-	NC_000004.12:g.95154653T>G	gnomAD
BMPR1B	O00238	p.Gln498Arg	rs773752951	missense variant	-	NC_000004.12:g.95154657A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln498Ter	rs1297303851	stop gained	-	NC_000004.12:g.95154656C>T	gnomAD
BMPR1B	O00238	p.Ile500Val	rs1300655982	missense variant	-	NC_000004.12:g.95154662A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile500Thr	rs761009116	missense variant	-	NC_000004.12:g.95154663T>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys501Arg	rs766714132	missense variant	-	NC_000004.12:g.95154666A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Thr	rs766714132	missense variant	-	NC_000004.12:g.95154666A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Glu	rs1229797838	missense variant	-	NC_000004.12:g.95154665A>G	TOPMed,gnomAD
BMPR1B	O00238	p.LeuTer502LeuUnk	rs1443065466	stop lost	-	NC_000004.12:g.95154670_95154671del	TOPMed
BMPR1B	O00238	p.Arg4Gln	rs150974461	missense variant	-	NC_000004.12:g.95104435G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg4Pro	rs150974461	missense variant	-	NC_000004.12:g.95104435G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser5Arg	rs1466418430	missense variant	-	NC_000004.12:g.95104439T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ala6Thr	rs143885868	missense variant	-	NC_000004.12:g.95104440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly7Arg	rs1279515650	missense variant	-	NC_000004.12:g.95104443G>A	TOPMed
BMPR1B	O00238	p.Thr13Ile	rs1374698890	missense variant	-	NC_000004.12:g.95104462C>T	TOPMed
BMPR1B	O00238	p.Lys14Gln	rs763496728	missense variant	-	NC_000004.12:g.95104464A>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys15Glu	rs1346115955	missense variant	-	NC_000004.12:g.95104467A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Glu19Asp	rs773850751	missense variant	-	NC_000004.12:g.95104481G>C	ExAC,gnomAD
BMPR1B	O00238	p.Ser20Gly	rs1281247073	missense variant	-	NC_000004.12:g.95104482A>G	gnomAD
BMPR1B	O00238	p.Thr21Ile	rs190883013	missense variant	-	NC_000004.12:g.95104486C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr24Ile	rs912115035	missense variant	-	NC_000004.12:g.95104495C>T	-
BMPR1B	O00238	p.Thr24Ala	rs754365645	missense variant	-	NC_000004.12:g.95104494A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr24Ala	RCV000425791	missense variant	-	NC_000004.12:g.95104494A>G	ClinVar
BMPR1B	O00238	p.Pro25Arg	rs145700191	missense variant	-	NC_000004.12:g.95104498C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro25His	rs145700191	missense variant	-	NC_000004.12:g.95104498C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26Pro	rs377000102	missense variant	-	NC_000004.12:g.95104501G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26Cys	rs758706811	missense variant	-	NC_000004.12:g.95104500C>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg26His	rs377000102	missense variant	-	NC_000004.12:g.95104501G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro27Arg	RCV000625922	missense variant	Primary pulmonary hypertension 3 (PPH3)	NC_000004.12:g.95104504C>G	ClinVar
BMPR1B	O00238	p.Pro27Arg	rs757312834	missense variant	-	NC_000004.12:g.95104504C>G	ExAC,gnomAD
BMPR1B	O00238	p.Val29Phe	rs773417270	missense variant	-	NC_000004.12:g.95104509G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg31Cys	VAR_075520	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	-	NC_000004.12:g.95104515C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	RCV000201128	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	ClinVar
BMPR1B	O00238	p.Arg31Ser	rs745854387	missense variant	-	NC_000004.12:g.95104515C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg31His	VAR_041401	missense variant	-	NC_000004.12:g.95104516G>A	UniProt
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31His	RCV000263624	missense variant	Brachydactyly	NC_000004.12:g.95104516G>A	ClinVar
BMPR1B	O00238	p.His37Tyr	rs1409575151	missense variant	-	NC_000004.12:g.95104533C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Glu40Gly	rs1381581400	missense variant	-	NC_000004.12:g.95104543A>G	TOPMed
BMPR1B	O00238	p.Asp41Tyr	rs775495653	missense variant	-	NC_000004.12:g.95104545G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn45Asp	rs749047942	missense variant	-	NC_000004.12:g.95104557A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn45Tyr	rs749047942	missense variant	-	NC_000004.12:g.95104557A>T	ExAC,gnomAD
BMPR1B	O00238	p.Gly51Val	rs1245250823	missense variant	-	NC_000004.12:g.95114728G>T	gnomAD
BMPR1B	O00238	p.Cys53Arg	RCV000201167	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95114733T>C	ClinVar
BMPR1B	O00238	p.Cys53Arg	rs863225041	missense variant	-	NC_000004.12:g.95114733T>C	-
BMPR1B	O00238	p.Thr55Met	rs1033648877	missense variant	-	NC_000004.12:g.95114740C>T	gnomAD
BMPR1B	O00238	p.Met56Thr	rs1191790811	missense variant	-	NC_000004.12:g.95114743T>C	TOPMed
BMPR1B	O00238	p.Ile57Thr	rs1364478234	missense variant	-	NC_000004.12:g.95114746T>C	gnomAD
BMPR1B	O00238	p.Ile57Val	rs1470243376	missense variant	-	NC_000004.12:g.95114745A>G	TOPMed
BMPR1B	O00238	p.Asp61Ala	rs1553939371	missense variant	-	NC_000004.12:g.95114758A>C	-
BMPR1B	O00238	p.Asp61Ala	RCV000596072	missense variant	-	NC_000004.12:g.95114758A>C	ClinVar
BMPR1B	O00238	p.Val66Met	rs1176860852	missense variant	-	NC_000004.12:g.95114772G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ser77Ala	rs200702974	missense variant	-	NC_000004.12:g.95114805T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Gly	rs140970485	missense variant	-	NC_000004.12:g.95115686A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Tyr	rs369807264	missense variant	-	NC_000004.12:g.95115685G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Ala	rs140970485	missense variant	-	NC_000004.12:g.95115686A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Asn	rs369807264	missense variant	-	NC_000004.12:g.95115685G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Val	rs140970485	missense variant	-	NC_000004.12:g.95115686A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83His	rs369807264	missense variant	-	NC_000004.12:g.95115685G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Glu	rs890305622	missense variant	-	NC_000004.12:g.95115687C>A	TOPMed
BMPR1B	O00238	p.Thr84Ala	rs192392906	missense variant	-	NC_000004.12:g.95115688A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr84Ile	rs200083866	missense variant	-	NC_000004.12:g.95115689C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr84Ser	rs192392906	missense variant	-	NC_000004.12:g.95115688A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Pro85Leu	rs767805662	missense variant	-	NC_000004.12:g.95115692C>T	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Ser	rs762270033	missense variant	-	NC_000004.12:g.95115691C>T	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Arg	rs767805662	missense variant	-	NC_000004.12:g.95115692C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile86Phe	rs1200081382	missense variant	-	NC_000004.12:g.95115694A>T	gnomAD
BMPR1B	O00238	p.Gln89His	rs558142045	missense variant	-	NC_000004.12:g.95115705A>T	1000Genomes
BMPR1B	O00238	p.Arg90Lys	rs1486216727	missense variant	-	NC_000004.12:g.95115707G>A	gnomAD
BMPR1B	O00238	p.Arg91Ile	rs376183647	missense variant	-	NC_000004.12:g.95115710G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu94Val	rs139161475	missense variant	-	NC_000004.12:g.95115719A>T	ExAC,gnomAD
BMPR1B	O00238	p.Glu94Ala	rs139161475	missense variant	-	NC_000004.12:g.95115719A>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu94Lys	rs200886063	missense variant	-	NC_000004.12:g.95115718G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ala	rs759423600	missense variant	-	NC_000004.12:g.95115727A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ala	RCV000304200	missense variant	-	NC_000004.12:g.95115727A>G	ClinVar
BMPR1B	O00238	p.Thr97Ser	rs759423600	missense variant	-	NC_000004.12:g.95115727A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Lys	rs151289886	missense variant	-	NC_000004.12:g.95115728C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Arg	rs151289886	missense variant	-	NC_000004.12:g.95115728C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ile	rs151289886	missense variant	-	NC_000004.12:g.95115728C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His107Leu	rs746713318	missense variant	-	NC_000004.12:g.95115758A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr109Ile	rs1386616728	missense variant	-	NC_000004.12:g.95115764C>T	gnomAD
BMPR1B	O00238	p.Pro112Ser	rs1225550138	missense variant	-	NC_000004.12:g.95115772C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Asp117Asn	rs571763786	missense variant	-	NC_000004.12:g.95115787G>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Phe118Leu	rs1185014709	missense variant	-	NC_000004.12:g.95123812T>C	gnomAD
BMPR1B	O00238	p.Val119Gly	rs541202129	missense variant	-	NC_000004.12:g.95123816T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Asp120Asn	rs1422671894	missense variant	-	NC_000004.12:g.95123818G>A	gnomAD
BMPR1B	O00238	p.Gly121Ter	RCV000006935	frameshift	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95123821_95123828del	ClinVar
BMPR1B	O00238	p.His124Arg	rs1397484175	missense variant	-	NC_000004.12:g.95123831A>G	TOPMed
BMPR1B	O00238	p.His124Tyr	rs759803347	missense variant	-	NC_000004.12:g.95123830C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg126Lys	rs1366056747	missense variant	-	NC_000004.12:g.95123837G>A	gnomAD
BMPR1B	O00238	p.Leu129Phe	rs755669488	missense variant	-	NC_000004.12:g.95123845C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ser131Thr	rs561117066	missense variant	-	NC_000004.12:g.95123851T>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Val132Leu	rs931491708	missense variant	-	NC_000004.12:g.95123854G>T	TOPMed
BMPR1B	O00238	p.Val132Gly	rs150002205	missense variant	-	NC_000004.12:g.95123855T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr133Pro	rs772559135	missense variant	-	NC_000004.12:g.95123857A>C	ExAC
BMPR1B	O00238	p.Val134Ala	rs1392029669	missense variant	-	NC_000004.12:g.95123861T>C	gnomAD
BMPR1B	O00238	p.Val134Ile	rs747412096	missense variant	-	NC_000004.12:g.95123860G>A	ExAC,gnomAD
BMPR1B	O00238	p.Cys135Gly	rs145201971	missense variant	-	NC_000004.12:g.95123863T>G	ESP,ExAC,TOPMed
BMPR1B	O00238	p.Leu139Phe	rs1250134332	missense variant	-	NC_000004.12:g.95123877G>T	TOPMed
BMPR1B	O00238	p.Leu139Met	rs1324227207	missense variant	-	NC_000004.12:g.95123875T>A	TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	rs138801821	missense variant	-	NC_000004.12:g.95123878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	RCV000202696	missense variant	-	NC_000004.12:g.95123878G>A	ClinVar
BMPR1B	O00238	p.Leu141Val	rs1346621381	missense variant	-	NC_000004.12:g.95123881C>G	gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg149Trp	rs34231464	missense variant	-	NC_000004.12:g.95123905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg149Trp	RCV000333918	missense variant	Brachydactyly	NC_000004.12:g.95123905C>T	ClinVar
BMPR1B	O00238	p.Gln153Arg	rs1197682678	missense variant	-	NC_000004.12:g.95124994A>G	gnomAD
BMPR1B	O00238	p.Glu154Lys	rs1172006396	missense variant	-	NC_000004.12:g.95124996G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr155Asn	rs140360809	missense variant	-	NC_000004.12:g.95125000C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg156Thr	rs769863111	missense variant	-	NC_000004.12:g.95125003G>C	ExAC,gnomAD
BMPR1B	O00238	p.Pro157Thr	rs779609471	missense variant	-	NC_000004.12:g.95125005C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro157Ser	RCV000424734	missense variant	-	NC_000004.12:g.95125005C>T	ClinVar
BMPR1B	O00238	p.Pro157Ser	rs779609471	missense variant	-	NC_000004.12:g.95125005C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg158Gln	rs761486688	missense variant	-	NC_000004.12:g.95125009G>A	ExAC,gnomAD
BMPR1B	O00238	p.Arg158Gly	rs774364369	missense variant	-	NC_000004.12:g.95125008C>G	ExAC,gnomAD
BMPR1B	O00238	p.Tyr159Asp	rs1366100450	missense variant	-	NC_000004.12:g.95125011T>G	gnomAD
BMPR1B	O00238	p.Ser160Cys	rs750037039	missense variant	-	NC_000004.12:g.95125014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Ser160Asn	rs149589961	missense variant	-	NC_000004.12:g.95125015G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile161Ser	rs766140919	missense variant	-	NC_000004.12:g.95125018T>G	ExAC,gnomAD
BMPR1B	O00238	p.Leu163Ile	rs1438025940	missense variant	-	NC_000004.12:g.95125023T>A	TOPMed
BMPR1B	O00238	p.Glu164Gln	rs754565613	missense variant	-	NC_000004.12:g.95125026G>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu164Lys	rs754565613	missense variant	-	NC_000004.12:g.95125026G>A	ExAC,gnomAD
BMPR1B	O00238	p.Asp166Val	rs781670372	missense variant	-	NC_000004.12:g.95125033A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Ala	rs781670372	missense variant	-	NC_000004.12:g.95125033A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Asn	rs752156962	missense variant	-	NC_000004.12:g.95125032G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166His	rs752156962	missense variant	-	NC_000004.12:g.95125032G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu167Ala	rs1490974342	missense variant	-	NC_000004.12:g.95125036A>C	gnomAD
BMPR1B	O00238	p.Thr168Ser	rs373998952	missense variant	-	NC_000004.12:g.95125039C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Tyr169Ser	rs769948288	missense variant	-	NC_000004.12:g.95125042A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Phe	rs778170724	missense variant	-	NC_000004.12:g.95125044A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Met	rs768768926	missense variant	-	NC_000004.12:g.95125046T>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile170Val	rs778170724	missense variant	-	NC_000004.12:g.95125044A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Ser	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Thr	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Cys	rs367777041	missense variant	-	NC_000004.12:g.95125060C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Ala	rs143554488	missense variant	-	NC_000004.12:g.95125059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Pro	rs143554488	missense variant	-	NC_000004.12:g.95125059T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Phe	rs367777041	missense variant	-	NC_000004.12:g.95125060C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu176Pro	rs771747962	missense variant	-	NC_000004.12:g.95125063T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu176Val	rs1337920731	missense variant	-	NC_000004.12:g.95125062C>G	TOPMed
BMPR1B	O00238	p.Arg177Gly	rs773000162	missense variant	-	NC_000004.12:g.95125065A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp178Asn	rs1442468616	missense variant	-	NC_000004.12:g.95125068G>A	gnomAD
BMPR1B	O00238	p.Leu179Ser	rs911866039	missense variant	-	NC_000004.12:g.95125072T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Leu179Phe	rs766089514	missense variant	-	NC_000004.12:g.95125073A>C	ExAC,gnomAD
BMPR1B	O00238	p.Ile180Thr	rs776445882	missense variant	-	NC_000004.12:g.95125075T>C	ExAC
BMPR1B	O00238	p.Ile180Asn	rs776445882	missense variant	-	NC_000004.12:g.95125075T>A	ExAC
BMPR1B	O00238	p.Gln182His	rs1362547455	missense variant	-	NC_000004.12:g.95125082G>T	gnomAD
BMPR1B	O00238	p.Gln182Arg	rs1384205404	missense variant	-	NC_000004.12:g.95125081A>G	TOPMed
BMPR1B	O00238	p.Ser183Pro	rs141691706	missense variant	-	NC_000004.12:g.95125083T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser183Pro	RCV000664165	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000004.12:g.95125083T>C	ClinVar
BMPR1B	O00238	p.Ser183Thr	rs141691706	missense variant	-	NC_000004.12:g.95125083T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly187Ala	rs200839585	missense variant	-	NC_000004.12:g.95125096G>C	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Leu194Arg	rs767925715	missense variant	-	NC_000004.12:g.95125117T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Pro	rs767925715	missense variant	-	NC_000004.12:g.95125117T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Gln	rs767925715	missense variant	-	NC_000004.12:g.95125117T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Val	rs757843329	missense variant	-	NC_000004.12:g.95125116C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile200Val	rs750954022	missense variant	-	NC_000004.12:g.95129874A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt,dbSNP
BMPR1B	O00238	p.Ile200Lys	VAR_023819	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	-	NC_000004.12:g.95129875T>A	-
BMPR1B	O00238	p.Ile200Lys	RCV000006933	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129875T>A	ClinVar
BMPR1B	O00238	p.Lys202Arg	rs185062260	missense variant	-	NC_000004.12:g.95129881A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Lys202Arg	RCV000766164	missense variant	-	NC_000004.12:g.95129881A>G	ClinVar
BMPR1B	O00238	p.Gln205Glu	rs766791531	missense variant	-	NC_000004.12:g.95129889C>G	ExAC,gnomAD
BMPR1B	O00238	p.Met206Val	rs1344379581	missense variant	-	NC_000004.12:g.95129892A>G	TOPMed
BMPR1B	O00238	p.Lys208Gln	rs1260652488	missense variant	-	NC_000004.12:g.95129898A>C	gnomAD
BMPR1B	O00238	p.Gln209Glu	rs1299044974	missense variant	-	NC_000004.12:g.95129901C>G	TOPMed
BMPR1B	O00238	p.Gln209Pro	rs1176798119	missense variant	-	NC_000004.12:g.95129902A>C	gnomAD
BMPR1B	O00238	p.Ile210Val	rs754044696	missense variant	-	NC_000004.12:g.95129904A>G	ExAC,gnomAD
BMPR1B	O00238	p.Arg214Ser	RCV000519599	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129916C>A	ClinVar
BMPR1B	O00238	p.Arg214His	rs755131943	missense variant	-	NC_000004.12:g.95129917G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg214Ser	rs1553941890	missense variant	-	NC_000004.12:g.95129916C>A	-
BMPR1B	O00238	p.Gly216Ala	rs779006691	missense variant	-	NC_000004.12:g.95129923G>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu217Lys	rs748217063	missense variant	-	NC_000004.12:g.95129925G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val218Asp	rs1303785017	missense variant	-	NC_000004.12:g.95129929T>A	TOPMed
BMPR1B	O00238	p.Trp219Ter	rs863225042	stop gained	-	NC_000004.12:g.95129933G>A	-
BMPR1B	O00238	p.Trp219Ter	RCV000201044	nonsense	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95129933G>A	ClinVar
BMPR1B	O00238	p.Lys222Thr	rs957165736	missense variant	-	NC_000004.12:g.95129941A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Lys222Glu	rs758429876	missense variant	-	NC_000004.12:g.95129940A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Trp223Cys	rs1295971366	missense variant	-	NC_000004.12:g.95129945G>C	TOPMed
BMPR1B	O00238	p.Arg224Cys	rs777745046	missense variant	-	NC_000004.12:g.95129946C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	RCV000386085	missense variant	Brachydactyly	NC_000004.12:g.95129947G>A	ClinVar
BMPR1B	O00238	p.Arg224Leu	rs35973133	missense variant	-	NC_000004.12:g.95129947G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg224His	VAR_041403	missense variant	-	NC_000004.12:g.95129947G>A	UniProt
BMPR1B	O00238	p.Lys227Glu	rs574398307	missense variant	-	NC_000004.12:g.95129955A>G	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Asn	rs1200045028	missense variant	-	NC_000004.12:g.95129957G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Gln	rs574398307	missense variant	-	NC_000004.12:g.95129955A>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Met	rs372556235	missense variant	-	NC_000004.12:g.95129956A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val228Ile	rs745674753	missense variant	-	NC_000004.12:g.95129958G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ala229Val	rs769423606	missense variant	-	NC_000004.12:g.95129962C>T	ExAC,gnomAD
BMPR1B	O00238	p.Lys231Ter	rs1207219833	stop gained	-	NC_000004.12:g.95129967A>T	gnomAD
BMPR1B	O00238	p.Phe234Leu	rs536641256	missense variant	-	NC_000004.12:g.95129978C>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr236Ala	rs1468067202	missense variant	-	NC_000004.12:g.95129982A>G	gnomAD
BMPR1B	O00238	p.Ala239Ser	rs773700021	missense variant	-	NC_000004.12:g.95129991G>T	ExAC,gnomAD
BMPR1B	O00238	p.Phe242Cys	rs754133041	missense variant	-	NC_000004.12:g.95130001T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ile	rs761226009	missense variant	-	NC_000004.12:g.95130000T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Val	rs761226009	missense variant	-	NC_000004.12:g.95130000T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Tyr	rs754133041	missense variant	-	NC_000004.12:g.95130001T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ser	rs754133041	missense variant	-	NC_000004.12:g.95130001T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs761226009	missense variant	-	NC_000004.12:g.95130000T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Gly	rs755476693	missense variant	-	NC_000004.12:g.95130003A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	RCV000328112	missense variant	Brachydactyly	NC_000004.12:g.95130004G>A	ClinVar
BMPR1B	O00238	p.Arg243Ser	rs1306782325	missense variant	-	NC_000004.12:g.95130005A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	rs886059731	missense variant	-	NC_000004.12:g.95130004G>A	gnomAD
BMPR1B	O00238	p.Thr245Lys	rs751532146	missense variant	-	NC_000004.12:g.95130010C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Arg	rs751532146	missense variant	-	NC_000004.12:g.95130010C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Val	rs779737736	missense variant	-	NC_000004.12:g.95130013A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Gly	rs779737736	missense variant	-	NC_000004.12:g.95130013A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Lys	rs369168607	missense variant	-	NC_000004.12:g.95130012G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Ala	rs779737736	missense variant	-	NC_000004.12:g.95130013A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Asp	rs748957679	missense variant	-	NC_000004.12:g.95130014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Glu246Gln	rs369168607	missense variant	-	NC_000004.12:g.95130012G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile247Met	rs1270927104	missense variant	-	NC_000004.12:g.95130017A>G	gnomAD
BMPR1B	O00238	p.Gln249Leu	rs187868598	missense variant	-	NC_000004.12:g.95130022A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Gln249Arg	rs187868598	missense variant	-	NC_000004.12:g.95130022A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Gln249Ter	rs142696562	stop gained	-	NC_000004.12:g.95130021C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Glu	rs142696562	missense variant	-	NC_000004.12:g.95130021C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr250Pro	rs1223084316	missense variant	-	NC_000004.12:g.95130024A>C	gnomAD
BMPR1B	O00238	p.Thr250Ile	rs771385869	missense variant	-	NC_000004.12:g.95130025C>T	ExAC,gnomAD
BMPR1B	O00238	p.Val251Gly	rs1463003460	missense variant	-	NC_000004.12:g.95130028T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met253Thr	rs1044164391	missense variant	-	NC_000004.12:g.95130034T>C	gnomAD
BMPR1B	O00238	p.Met253Leu	rs948475886	missense variant	-	NC_000004.12:g.95130033A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	rs200198618	missense variant	-	NC_000004.12:g.95130038G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	RCV000384921	missense variant	Brachydactyly	NC_000004.12:g.95130038G>T	ClinVar
BMPR1B	O00238	p.Asn257Asp	rs201034260	missense variant	-	NC_000004.12:g.95130045A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn257Asp	RCV000480897	missense variant	-	NC_000004.12:g.95130045A>G	ClinVar
BMPR1B	O00238	p.Ile258Val	rs1473660478	missense variant	-	NC_000004.12:g.95130048A>G	TOPMed
BMPR1B	O00238	p.Gly260Val	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Gly260Asp	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Phe261Tyr	rs375308110	missense variant	-	NC_000004.12:g.95131218T>A	ESP,ExAC
BMPR1B	O00238	p.Ile262Val	rs761965542	missense variant	-	NC_000004.12:g.95131220A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Ser	rs767750336	missense variant	-	NC_000004.12:g.95131226G>T	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Thr	rs767750336	missense variant	-	NC_000004.12:g.95131226G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ile266Val	rs1267095165	missense variant	-	NC_000004.12:g.95131232A>G	gnomAD
BMPR1B	O00238	p.Gly270Glu	rs750357066	missense variant	-	NC_000004.12:g.95131245G>A	ExAC,gnomAD
BMPR1B	O00238	p.Gln274Glu	rs1183108551	missense variant	-	NC_000004.12:g.95131256C>G	gnomAD
BMPR1B	O00238	p.Gln274His	rs1414676286	missense variant	-	NC_000004.12:g.95131258G>C	gnomAD
BMPR1B	O00238	p.Leu277Val	rs755942515	missense variant	-	NC_000004.12:g.95131265C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr279Ile	rs147336783	missense variant	-	NC_000004.12:g.95131272C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp280Asn	rs551370449	missense variant	-	NC_000004.12:g.95131274G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp280Glu	rs1401526219	missense variant	-	NC_000004.12:g.95131276C>G	gnomAD
BMPR1B	O00238	p.Tyr281Cys	rs1395395990	missense variant	-	NC_000004.12:g.95131278A>G	TOPMed,gnomAD
BMPR1B	O00238	p.His282Tyr	rs556937566	missense variant	-	NC_000004.12:g.95131280C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His282Gln	rs371779248	missense variant	-	NC_000004.12:g.95131282T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly285Asp	rs1226334806	missense variant	-	NC_000004.12:g.95131290G>A	gnomAD
BMPR1B	O00238	p.Leu287Val	rs1478767431	missense variant	-	NC_000004.12:g.95131295C>G	TOPMed
BMPR1B	O00238	p.Tyr288Asn	rs746544755	missense variant	-	NC_000004.12:g.95131298T>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr288His	rs746544755	missense variant	-	NC_000004.12:g.95131298T>C	ExAC,gnomAD
BMPR1B	O00238	p.Tyr290His	rs770135176	missense variant	-	NC_000004.12:g.95131304T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys292Arg	rs1001539320	missense variant	-	NC_000004.12:g.95131311A>G	gnomAD
BMPR1B	O00238	p.Lys292Asn	rs1180765631	missense variant	-	NC_000004.12:g.95131312G>T	TOPMed
BMPR1B	O00238	p.Ser293Cys	rs1206508270	missense variant	-	NC_000004.12:g.95131314C>G	gnomAD
BMPR1B	O00238	p.Thr294Ser	rs1471841789	missense variant	-	NC_000004.12:g.95131317C>G	gnomAD
BMPR1B	O00238	p.Thr295Ile	rs1481774294	missense variant	-	NC_000004.12:g.95131320C>T	TOPMed
BMPR1B	O00238	p.Asp297Glu	rs112111860	missense variant	-	NC_000004.12:g.95131327C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp297Ala	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>C	gnomAD
BMPR1B	O00238	p.Asp297His	rs1205132180	missense variant	-	NC_000004.12:g.95131325G>C	TOPMed
BMPR1B	O00238	p.Asp297Gly	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>G	gnomAD
BMPR1B	O00238	p.Asp297Asn	VAR_041404	Missense	-	-	UniProt
BMPR1B	O00238	p.Ala298Thr	rs373000965	missense variant	-	NC_000004.12:g.95131328G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Gln	rs762320529	missense variant	-	NC_000004.12:g.95131331A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Arg	rs773095683	missense variant	-	NC_000004.12:g.95131332A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Glu	rs762320529	missense variant	-	NC_000004.12:g.95131331A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Asn	rs760837301	missense variant	-	NC_000004.12:g.95131333A>C	ExAC,gnomAD
BMPR1B	O00238	p.Met301Ile	rs753862322	missense variant	-	NC_000004.12:g.95131339G>A	ExAC,gnomAD
BMPR1B	O00238	p.Met301Val	rs199613098	missense variant	-	NC_000004.12:g.95131337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys303Gln	rs370428276	missense variant	-	NC_000004.12:g.95131343A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala305Thr	rs765766633	missense variant	-	NC_000004.12:g.95131349G>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr306Cys	rs1228462504	missense variant	-	NC_000004.12:g.95131353A>G	gnomAD
BMPR1B	O00238	p.Val309Ile	rs757988979	missense variant	-	NC_000004.12:g.95131361G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ser310Gly	rs777487568	missense variant	-	NC_000004.12:g.95131364A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr317Ile	rs1358949370	missense variant	-	NC_000004.12:g.95131386C>T	TOPMed
BMPR1B	O00238	p.Glu318Gln	rs750995828	missense variant	-	NC_000004.12:g.95131388G>C	ExAC,gnomAD
BMPR1B	O00238	p.Phe320Ser	rs756816303	missense variant	-	NC_000004.12:g.95131395T>C	ExAC,gnomAD
BMPR1B	O00238	p.Thr322Ile	rs1332563913	missense variant	-	NC_000004.12:g.95131401C>T	TOPMed
BMPR1B	O00238	p.Lys325Asn	RCV000208782	missense variant	Brachydactyly, type a1, d (BDA1D)	NC_000004.12:g.95131411A>C	ClinVar
BMPR1B	O00238	p.Lys325Asn	rs869025614	missense variant	-	NC_000004.12:g.95131411A>C	-
BMPR1B	O00238	p.Ala327Val	rs1157918508	missense variant	-	NC_000004.12:g.95131416C>T	TOPMed
BMPR1B	O00238	p.Ala327Ser	rs141032424	missense variant	-	NC_000004.12:g.95131415G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala327Thr	rs141032424	missense variant	-	NC_000004.12:g.95131415G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile328Val	rs1170531805	missense variant	-	NC_000004.12:g.95131418A>G	gnomAD
BMPR1B	O00238	p.Ala329Val	rs1471363374	missense variant	-	NC_000004.12:g.95131422C>T	TOPMed
BMPR1B	O00238	p.His330Tyr	rs1177728492	missense variant	-	NC_000004.12:g.95131424C>T	TOPMed
BMPR1B	O00238	p.Arg331Gly	rs376126706	missense variant	-	NC_000004.12:g.95131427C>G	ESP,ExAC,gnomAD
BMPR1B	O00238	p.Arg331Gln	rs1427765668	missense variant	-	NC_000004.12:g.95131428G>A	gnomAD
BMPR1B	O00238	p.Leu333Val	rs978472184	missense variant	-	NC_000004.12:g.95131433C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Val	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Leu	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Val340Met	rs779359224	missense variant	-	NC_000004.12:g.95131454G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys341Met	rs1438345481	missense variant	-	NC_000004.12:g.95131458A>T	gnomAD
BMPR1B	O00238	p.Lys342Glu	rs748524936	missense variant	-	NC_000004.12:g.95131460A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys342Gln	rs748524936	missense variant	-	NC_000004.12:g.95131460A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn343Asp	rs1264056613	missense variant	-	NC_000004.12:g.95131463A>G	TOPMed
BMPR1B	O00238	p.Thr345Ser	rs773503299	missense variant	-	NC_000004.12:g.95131470C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile348Val	rs1339367828	missense variant	-	NC_000004.12:g.95131478A>G	gnomAD
BMPR1B	O00238	p.Val355Leu	rs1224854340	missense variant	-	NC_000004.12:g.95131499G>C	TOPMed
BMPR1B	O00238	p.Lys356Thr	rs1282921509	missense variant	-	NC_000004.12:g.95131503A>C	TOPMed
BMPR1B	O00238	p.Phe357Cys	rs528180688	missense variant	-	NC_000004.12:g.95131506T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ile358Val	rs1454953723	missense variant	-	NC_000004.12:g.95131508A>G	TOPMed
BMPR1B	O00238	p.Ser359Gly	rs201289177	missense variant	-	NC_000004.12:g.95131511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp360Gly	rs763992306	missense variant	-	NC_000004.12:g.95148750A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr361Lys	rs1416896677	missense variant	-	NC_000004.12:g.95148753C>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr361Ala	rs1179983257	missense variant	-	NC_000004.12:g.95148752A>G	gnomAD
BMPR1B	O00238	p.Val364Phe	rs1416959162	missense variant	-	NC_000004.12:g.95148761G>T	gnomAD
BMPR1B	O00238	p.Val364Ala	rs773874757	missense variant	-	NC_000004.12:g.95148762T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp365Val	rs1385960904	missense variant	-	NC_000004.12:g.95148765A>T	gnomAD
BMPR1B	O00238	p.Asp365Asn	rs761588488	missense variant	-	NC_000004.12:g.95148764G>A	ExAC,gnomAD
BMPR1B	O00238	p.Asp365Glu	rs1456285512	missense variant	-	NC_000004.12:g.95148766C>A	gnomAD
BMPR1B	O00238	p.Ile366Arg	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile366Val	rs767077000	missense variant	-	NC_000004.12:g.95148767A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile366Thr	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Thr	rs148550671	missense variant	-	NC_000004.12:g.95148770C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Ser	rs148550671	missense variant	-	NC_000004.12:g.95148770C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Arg	rs1284054241	missense variant	-	NC_000004.12:g.95148771C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Ser	rs577188671	missense variant	-	NC_000004.12:g.95148773C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Ser	RCV000379873	missense variant	Brachydactyly	NC_000004.12:g.95148773C>T	ClinVar
BMPR1B	O00238	p.Pro368Arg	rs1286747826	missense variant	-	NC_000004.12:g.95148774C>G	gnomAD
BMPR1B	O00238	p.Asn369Ser	rs747347346	missense variant	-	NC_000004.12:g.95148777A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn369Asp	RCV000283012	missense variant	Brachydactyly	NC_000004.12:g.95148776A>G	ClinVar
BMPR1B	O00238	p.Asn369Asp	rs778257341	missense variant	-	NC_000004.12:g.95148776A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr370Ser	rs757434006	missense variant	-	NC_000004.12:g.95148779A>T	ExAC,gnomAD
BMPR1B	O00238	p.Thr370Ile	rs781424907	missense variant	-	NC_000004.12:g.95148780C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Leu	rs34970181	missense variant	-	NC_000004.12:g.95148783G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Leu	RCV000340460	missense variant	Brachydactyly	NC_000004.12:g.95148783G>T	ClinVar
BMPR1B	O00238	p.Arg371Pro	rs34970181	missense variant	-	NC_000004.12:g.95148783G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg371Gln	VAR_041405	missense variant	-	NC_000004.12:g.95148783G>A	UniProt
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Gln	RCV000685866	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95148783G>A	ClinVar
BMPR1B	O00238	p.Arg376Cys	rs768328319	missense variant	-	NC_000004.12:g.95148797C>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr377Cys	rs559805218	missense variant	-	NC_000004.12:g.95148801A>G	1000Genomes
BMPR1B	O00238	p.Met378Arg	rs1292399504	missense variant	-	NC_000004.12:g.95148804T>G	TOPMed
BMPR1B	O00238	p.Ser386Thr	rs1204148833	missense variant	-	NC_000004.12:g.95148828G>C	gnomAD
BMPR1B	O00238	p.Leu387Phe	rs1426672160	missense variant	-	NC_000004.12:g.95148832G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg389Gly	rs760241910	missense variant	-	NC_000004.12:g.95148836A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn390Ser	rs766046737	missense variant	-	NC_000004.12:g.95148840A>G	ExAC,gnomAD
BMPR1B	O00238	p.His391Arg	rs943183996	missense variant	-	NC_000004.12:g.95148843A>G	gnomAD
BMPR1B	O00238	p.His391Pro	rs943183996	missense variant	-	NC_000004.12:g.95148843A>C	gnomAD
BMPR1B	O00238	p.Phe392Ser	rs753253207	missense variant	-	NC_000004.12:g.95148846T>C	ExAC,gnomAD
BMPR1B	O00238	p.Phe392Leu	rs1412113319	missense variant	-	NC_000004.12:g.95148847C>G	gnomAD
BMPR1B	O00238	p.Phe392Val	rs1464900722	missense variant	-	NC_000004.12:g.95148845T>G	TOPMed
BMPR1B	O00238	p.Gln393His	rs758874215	missense variant	-	NC_000004.12:g.95148850G>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr395Ser	rs1350190350	missense variant	-	NC_000004.12:g.95148855A>C	gnomAD
BMPR1B	O00238	p.Met397Val	rs548452438	missense variant	-	NC_000004.12:g.95148860A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ala398Thr	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ala398Ser	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met400Val	rs757593146	missense variant	-	NC_000004.12:g.95148869A>G	ExAC,gnomAD
BMPR1B	O00238	p.Met400Ile	rs1279570525	missense variant	-	NC_000004.12:g.95148871G>A	gnomAD
BMPR1B	O00238	p.Phe403Val	rs1207154351	missense variant	-	NC_000004.12:g.95148878T>G	gnomAD
BMPR1B	O00238	p.Val410Leu	rs746134819	missense variant	-	NC_000004.12:g.95148899G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val410Phe	rs746134819	missense variant	-	NC_000004.12:g.95148899G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala411Thr	rs969503674	missense variant	-	NC_000004.12:g.95148902G>A	TOPMed
BMPR1B	O00238	p.Arg412Gly	rs1190618723	missense variant	-	NC_000004.12:g.95148905A>G	TOPMed
BMPR1B	O00238	p.Arg412Lys	rs561948192	missense variant	-	NC_000004.12:g.95148906G>A	1000Genomes,TOPMed
BMPR1B	O00238	p.Arg413Thr	rs780171269	missense variant	-	NC_000004.12:g.95148909G>C	ExAC,gnomAD
BMPR1B	O00238	p.Arg413Ser	rs186299744	missense variant	-	NC_000004.12:g.95148910A>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Cys414Arg	rs980823830	missense variant	-	NC_000004.12:g.95148911T>C	TOPMed
BMPR1B	O00238	p.Cys414Tyr	rs1476786316	missense variant	-	NC_000004.12:g.95148912G>A	gnomAD
BMPR1B	O00238	p.Gly418Asp	rs1248109194	missense variant	-	NC_000004.12:g.95152643G>A	gnomAD
BMPR1B	O00238	p.Ile419Thr	rs1450785068	missense variant	-	NC_000004.12:g.95152646T>C	gnomAD
BMPR1B	O00238	p.Val420Ala	rs1249589876	missense variant	-	NC_000004.12:g.95152649T>C	TOPMed
BMPR1B	O00238	p.His428Gln	rs1313808319	missense variant	-	NC_000004.12:g.95152674T>A	gnomAD
BMPR1B	O00238	p.His428Asp	rs1447783996	missense variant	-	NC_000004.12:g.95152672C>G	TOPMed
BMPR1B	O00238	p.Leu430Val	rs1208101811	missense variant	-	NC_000004.12:g.95152678C>G	TOPMed
BMPR1B	O00238	p.Pro432Leu	rs1458772834	missense variant	-	NC_000004.12:g.95152685C>T	gnomAD
BMPR1B	O00238	p.Ser433Asn	rs1165392388	missense variant	-	NC_000004.12:g.95152688G>A	gnomAD
BMPR1B	O00238	p.Pro435Leu	rs985981901	missense variant	-	NC_000004.12:g.95152694C>T	TOPMed
BMPR1B	O00238	p.Met440Val	rs376221874	missense variant	-	NC_000004.12:g.95152708A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met440Leu	rs376221874	missense variant	-	NC_000004.12:g.95152708A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Lys	rs879008149	missense variant	-	NC_000004.12:g.95152712G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Thr	rs879008149	missense variant	-	NC_000004.12:g.95152712G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Thr	rs752045710	missense variant	-	NC_000004.12:g.95152718T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Met	rs1432975995	missense variant	-	NC_000004.12:g.95152719T>G	gnomAD
BMPR1B	O00238	p.Ile446Leu	rs1325757207	missense variant	-	NC_000004.12:g.95152726A>C	gnomAD
BMPR1B	O00238	p.Lys447Arg	rs371436999	missense variant	-	NC_000004.12:g.95152730A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro451Ser	rs1321058552	missense variant	-	NC_000004.12:g.95152741C>T	TOPMed
BMPR1B	O00238	p.Asn455His	rs756258100	missense variant	-	NC_000004.12:g.95152753A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Trp	rs780280883	missense variant	-	NC_000004.12:g.95152756C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gln	rs140047318	missense variant	-	NC_000004.12:g.95152757G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Leu	rs140047318	missense variant	-	NC_000004.12:g.95152757G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Pro	rs140047318	missense variant	-	NC_000004.12:g.95152757G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gly	rs780280883	missense variant	-	NC_000004.12:g.95152756C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser458Asn	rs1260383981	missense variant	-	NC_000004.12:g.95152763G>A	gnomAD
BMPR1B	O00238	p.Ser459Asn	rs1190153129	missense variant	-	NC_000004.12:g.95152766G>A	gnomAD
BMPR1B	O00238	p.Ser459Gly	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>G	gnomAD
BMPR1B	O00238	p.Ser459Arg	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>C	gnomAD
BMPR1B	O00238	p.Glu461Lys	rs1367092167	missense variant	-	NC_000004.12:g.95152771G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Cys462Tyr	rs766596192	missense variant	-	NC_000004.12:g.95154549G>A	ExAC,gnomAD
BMPR1B	O00238	p.Cys462Phe	rs766596192	missense variant	-	NC_000004.12:g.95154549G>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg464Ser	rs1308433194	missense variant	-	NC_000004.12:g.95154556G>T	gnomAD
BMPR1B	O00238	p.Gln465Arg	rs369609245	missense variant	-	NC_000004.12:g.95154558A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met466Leu	rs778929099	missense variant	-	NC_000004.12:g.95154560A>T	ExAC,gnomAD
BMPR1B	O00238	p.Gly467Ala	rs1305848208	missense variant	-	NC_000004.12:g.95154564G>C	gnomAD
BMPR1B	O00238	p.Met470Thr	rs1234757133	missense variant	-	NC_000004.12:g.95154573T>C	gnomAD
BMPR1B	O00238	p.Thr471Ala	rs752827445	missense variant	-	NC_000004.12:g.95154575A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala479Ser	rs746760963	missense variant	-	NC_000004.12:g.95154599G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala479Val	rs1241726567	missense variant	-	NC_000004.12:g.95154600C>T	TOPMed
BMPR1B	O00238	p.Ala479Thr	rs746760963	missense variant	-	NC_000004.12:g.95154599G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr483Ile	RCV000444497	missense variant	-	NC_000004.12:g.95154612C>T	ClinVar
BMPR1B	O00238	p.Thr483Ala	rs1435017955	missense variant	-	NC_000004.12:g.95154611A>G	gnomAD
BMPR1B	O00238	p.Thr483Ile	rs1057521819	missense variant	-	NC_000004.12:g.95154612C>T	-
BMPR1B	O00238	p.Ala484Ser	rs769339843	missense variant	-	NC_000004.12:g.95154614G>T	ExAC,gnomAD
BMPR1B	O00238	p.Ala484Val	rs1394503432	missense variant	-	NC_000004.12:g.95154615C>T	gnomAD
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	-	NC_000004.12:g.95154620C>T	-
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Trp	VAR_023820	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt
BMPR1B	O00238	p.Arg486Trp	RCV000006934	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154620C>T	ClinVar
BMPR1B	O00238	p.Arg486Gln	RCV000006936	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154621G>A	ClinVar
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	-	NC_000004.12:g.95154621G>A	-
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Gln	VAR_037967	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt
BMPR1B	O00238	p.Val487Ile	rs369899177	missense variant	-	NC_000004.12:g.95154623G>A	ESP
BMPR1B	O00238	p.Leu491Val	rs748806114	missense variant	-	NC_000004.12:g.95154635C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ser497Ala	rs1460265958	missense variant	-	NC_000004.12:g.95154653T>G	gnomAD
BMPR1B	O00238	p.Gln498Ter	rs1297303851	stop gained	-	NC_000004.12:g.95154656C>T	gnomAD
BMPR1B	O00238	p.Gln498Arg	rs773752951	missense variant	-	NC_000004.12:g.95154657A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile500Thr	rs761009116	missense variant	-	NC_000004.12:g.95154663T>C	ExAC,gnomAD
BMPR1B	O00238	p.Ile500Val	rs1300655982	missense variant	-	NC_000004.12:g.95154662A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Glu	rs1229797838	missense variant	-	NC_000004.12:g.95154665A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Arg	rs766714132	missense variant	-	NC_000004.12:g.95154666A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Thr	rs766714132	missense variant	-	NC_000004.12:g.95154666A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.LeuTer502LeuUnk	rs1443065466	stop lost	-	NC_000004.12:g.95154670_95154671del	TOPMed
BMPR1B	O00238	p.Arg4Gln	rs150974461	missense variant	-	NC_000004.12:g.95104435G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg4Pro	rs150974461	missense variant	-	NC_000004.12:g.95104435G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser5Arg	rs1466418430	missense variant	-	NC_000004.12:g.95104439T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ala6Thr	rs143885868	missense variant	-	NC_000004.12:g.95104440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly7Arg	rs1279515650	missense variant	-	NC_000004.12:g.95104443G>A	TOPMed
BMPR1B	O00238	p.Thr13Ile	rs1374698890	missense variant	-	NC_000004.12:g.95104462C>T	TOPMed
BMPR1B	O00238	p.Lys14Gln	rs763496728	missense variant	-	NC_000004.12:g.95104464A>C	ExAC,gnomAD
BMPR1B	O00238	p.Lys15Glu	rs1346115955	missense variant	-	NC_000004.12:g.95104467A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Glu19Asp	rs773850751	missense variant	-	NC_000004.12:g.95104481G>C	ExAC,gnomAD
BMPR1B	O00238	p.Ser20Gly	rs1281247073	missense variant	-	NC_000004.12:g.95104482A>G	gnomAD
BMPR1B	O00238	p.Thr21Ile	rs190883013	missense variant	-	NC_000004.12:g.95104486C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr24Ala	RCV000425791	missense variant	-	NC_000004.12:g.95104494A>G	ClinVar
BMPR1B	O00238	p.Thr24Ala	rs754365645	missense variant	-	NC_000004.12:g.95104494A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr24Ile	rs912115035	missense variant	-	NC_000004.12:g.95104495C>T	-
BMPR1B	O00238	p.Pro25Arg	rs145700191	missense variant	-	NC_000004.12:g.95104498C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro25His	rs145700191	missense variant	-	NC_000004.12:g.95104498C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26Cys	rs758706811	missense variant	-	NC_000004.12:g.95104500C>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg26Pro	rs377000102	missense variant	-	NC_000004.12:g.95104501G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg26His	rs377000102	missense variant	-	NC_000004.12:g.95104501G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro27Arg	RCV000625922	missense variant	Primary pulmonary hypertension 3 (PPH3)	NC_000004.12:g.95104504C>G	ClinVar
BMPR1B	O00238	p.Pro27Arg	rs757312834	missense variant	-	NC_000004.12:g.95104504C>G	ExAC,gnomAD
BMPR1B	O00238	p.Val29Phe	rs773417270	missense variant	-	NC_000004.12:g.95104509G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	-	NC_000004.12:g.95104515C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31Cys	rs745854387	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg31Cys	VAR_075520	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	UniProt
BMPR1B	O00238	p.Arg31Cys	RCV000201128	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95104515C>T	ClinVar
BMPR1B	O00238	p.Arg31His	RCV000263624	missense variant	Brachydactyly	NC_000004.12:g.95104516G>A	ClinVar
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg31His	rs200035802	missense variant	-	NC_000004.12:g.95104516G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg31His	VAR_041401	missense variant	-	NC_000004.12:g.95104516G>A	UniProt
BMPR1B	O00238	p.Arg31Ser	rs745854387	missense variant	-	NC_000004.12:g.95104515C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His37Tyr	rs1409575151	missense variant	-	NC_000004.12:g.95104533C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Glu40Gly	rs1381581400	missense variant	-	NC_000004.12:g.95104543A>G	TOPMed
BMPR1B	O00238	p.Asp41Tyr	rs775495653	missense variant	-	NC_000004.12:g.95104545G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn45Asp	rs749047942	missense variant	-	NC_000004.12:g.95104557A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn45Tyr	rs749047942	missense variant	-	NC_000004.12:g.95104557A>T	ExAC,gnomAD
BMPR1B	O00238	p.Gly51Val	rs1245250823	missense variant	-	NC_000004.12:g.95114728G>T	gnomAD
BMPR1B	O00238	p.Cys53Arg	rs863225041	missense variant	-	NC_000004.12:g.95114733T>C	-
BMPR1B	O00238	p.Cys53Arg	RCV000201167	missense variant	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95114733T>C	ClinVar
BMPR1B	O00238	p.Thr55Met	rs1033648877	missense variant	-	NC_000004.12:g.95114740C>T	gnomAD
BMPR1B	O00238	p.Met56Thr	rs1191790811	missense variant	-	NC_000004.12:g.95114743T>C	TOPMed
BMPR1B	O00238	p.Ile57Thr	rs1364478234	missense variant	-	NC_000004.12:g.95114746T>C	gnomAD
BMPR1B	O00238	p.Ile57Val	rs1470243376	missense variant	-	NC_000004.12:g.95114745A>G	TOPMed
BMPR1B	O00238	p.Asp61Ala	rs1553939371	missense variant	-	NC_000004.12:g.95114758A>C	-
BMPR1B	O00238	p.Asp61Ala	RCV000596072	missense variant	-	NC_000004.12:g.95114758A>C	ClinVar
BMPR1B	O00238	p.Val66Met	rs1176860852	missense variant	-	NC_000004.12:g.95114772G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ser77Ala	rs200702974	missense variant	-	NC_000004.12:g.95114805T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83His	rs369807264	missense variant	-	NC_000004.12:g.95115685G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Tyr	rs369807264	missense variant	-	NC_000004.12:g.95115685G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Gly	rs140970485	missense variant	-	NC_000004.12:g.95115686A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Asn	rs369807264	missense variant	-	NC_000004.12:g.95115685G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Ala	rs140970485	missense variant	-	NC_000004.12:g.95115686A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Val	rs140970485	missense variant	-	NC_000004.12:g.95115686A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp83Glu	rs890305622	missense variant	-	NC_000004.12:g.95115687C>A	TOPMed
BMPR1B	O00238	p.Thr84Ser	rs192392906	missense variant	-	NC_000004.12:g.95115688A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr84Ala	rs192392906	missense variant	-	NC_000004.12:g.95115688A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr84Ile	rs200083866	missense variant	-	NC_000004.12:g.95115689C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro85Leu	rs767805662	missense variant	-	NC_000004.12:g.95115692C>T	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Ser	rs762270033	missense variant	-	NC_000004.12:g.95115691C>T	ExAC,gnomAD
BMPR1B	O00238	p.Pro85Arg	rs767805662	missense variant	-	NC_000004.12:g.95115692C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile86Phe	rs1200081382	missense variant	-	NC_000004.12:g.95115694A>T	gnomAD
BMPR1B	O00238	p.Gln89His	rs558142045	missense variant	-	NC_000004.12:g.95115705A>T	1000Genomes
BMPR1B	O00238	p.Arg90Lys	rs1486216727	missense variant	-	NC_000004.12:g.95115707G>A	gnomAD
BMPR1B	O00238	p.Arg91Ile	rs376183647	missense variant	-	NC_000004.12:g.95115710G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu94Ala	rs139161475	missense variant	-	NC_000004.12:g.95115719A>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu94Val	rs139161475	missense variant	-	NC_000004.12:g.95115719A>T	ExAC,gnomAD
BMPR1B	O00238	p.Glu94Lys	rs200886063	missense variant	-	NC_000004.12:g.95115718G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ala	RCV000304200	missense variant	-	NC_000004.12:g.95115727A>G	ClinVar
BMPR1B	O00238	p.Thr97Ala	rs759423600	missense variant	-	NC_000004.12:g.95115727A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Arg	rs151289886	missense variant	-	NC_000004.12:g.95115728C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ser	rs759423600	missense variant	-	NC_000004.12:g.95115727A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Lys	rs151289886	missense variant	-	NC_000004.12:g.95115728C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr97Ile	rs151289886	missense variant	-	NC_000004.12:g.95115728C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His107Leu	rs746713318	missense variant	-	NC_000004.12:g.95115758A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr109Ile	rs1386616728	missense variant	-	NC_000004.12:g.95115764C>T	gnomAD
BMPR1B	O00238	p.Pro112Ser	rs1225550138	missense variant	-	NC_000004.12:g.95115772C>T	TOPMed,gnomAD
BMPR1B	O00238	p.Asp117Asn	rs571763786	missense variant	-	NC_000004.12:g.95115787G>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Phe118Leu	rs1185014709	missense variant	-	NC_000004.12:g.95123812T>C	gnomAD
BMPR1B	O00238	p.Val119Gly	rs541202129	missense variant	-	NC_000004.12:g.95123816T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Asp120Asn	rs1422671894	missense variant	-	NC_000004.12:g.95123818G>A	gnomAD
BMPR1B	O00238	p.Gly121Ter	RCV000006935	frameshift	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95123821_95123828del	ClinVar
BMPR1B	O00238	p.His124Arg	rs1397484175	missense variant	-	NC_000004.12:g.95123831A>G	TOPMed
BMPR1B	O00238	p.His124Tyr	rs759803347	missense variant	-	NC_000004.12:g.95123830C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg126Lys	rs1366056747	missense variant	-	NC_000004.12:g.95123837G>A	gnomAD
BMPR1B	O00238	p.Leu129Phe	rs755669488	missense variant	-	NC_000004.12:g.95123845C>T	ExAC,gnomAD
BMPR1B	O00238	p.Ser131Thr	rs561117066	missense variant	-	NC_000004.12:g.95123851T>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Val132Leu	rs931491708	missense variant	-	NC_000004.12:g.95123854G>T	TOPMed
BMPR1B	O00238	p.Val132Gly	rs150002205	missense variant	-	NC_000004.12:g.95123855T>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr133Pro	rs772559135	missense variant	-	NC_000004.12:g.95123857A>C	ExAC
BMPR1B	O00238	p.Val134Ala	rs1392029669	missense variant	-	NC_000004.12:g.95123861T>C	gnomAD
BMPR1B	O00238	p.Val134Ile	rs747412096	missense variant	-	NC_000004.12:g.95123860G>A	ExAC,gnomAD
BMPR1B	O00238	p.Cys135Gly	rs145201971	missense variant	-	NC_000004.12:g.95123863T>G	ESP,ExAC,TOPMed
BMPR1B	O00238	p.Leu139Phe	rs1250134332	missense variant	-	NC_000004.12:g.95123877G>T	TOPMed
BMPR1B	O00238	p.Leu139Met	rs1324227207	missense variant	-	NC_000004.12:g.95123875T>A	TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	rs138801821	missense variant	-	NC_000004.12:g.95123878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val140Ile	RCV000202696	missense variant	-	NC_000004.12:g.95123878G>A	ClinVar
BMPR1B	O00238	p.Leu141Val	rs1346621381	missense variant	-	NC_000004.12:g.95123881C>G	gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe148Leu	rs775375747	missense variant	-	NC_000004.12:g.95123904C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg149Trp	RCV000333918	missense variant	Brachydactyly	NC_000004.12:g.95123905C>T	ClinVar
BMPR1B	O00238	p.Arg149Trp	rs34231464	missense variant	-	NC_000004.12:g.95123905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln153Arg	rs1197682678	missense variant	-	NC_000004.12:g.95124994A>G	gnomAD
BMPR1B	O00238	p.Glu154Lys	rs1172006396	missense variant	-	NC_000004.12:g.95124996G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr155Asn	rs140360809	missense variant	-	NC_000004.12:g.95125000C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg156Thr	rs769863111	missense variant	-	NC_000004.12:g.95125003G>C	ExAC,gnomAD
BMPR1B	O00238	p.Pro157Thr	rs779609471	missense variant	-	NC_000004.12:g.95125005C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro157Ser	RCV000424734	missense variant	-	NC_000004.12:g.95125005C>T	ClinVar
BMPR1B	O00238	p.Pro157Ser	rs779609471	missense variant	-	NC_000004.12:g.95125005C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg158Gln	rs761486688	missense variant	-	NC_000004.12:g.95125009G>A	ExAC,gnomAD
BMPR1B	O00238	p.Arg158Gly	rs774364369	missense variant	-	NC_000004.12:g.95125008C>G	ExAC,gnomAD
BMPR1B	O00238	p.Tyr159Asp	rs1366100450	missense variant	-	NC_000004.12:g.95125011T>G	gnomAD
BMPR1B	O00238	p.Ser160Cys	rs750037039	missense variant	-	NC_000004.12:g.95125014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Ser160Asn	rs149589961	missense variant	-	NC_000004.12:g.95125015G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile161Ser	rs766140919	missense variant	-	NC_000004.12:g.95125018T>G	ExAC,gnomAD
BMPR1B	O00238	p.Leu163Ile	rs1438025940	missense variant	-	NC_000004.12:g.95125023T>A	TOPMed
BMPR1B	O00238	p.Glu164Gln	rs754565613	missense variant	-	NC_000004.12:g.95125026G>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu164Lys	rs754565613	missense variant	-	NC_000004.12:g.95125026G>A	ExAC,gnomAD
BMPR1B	O00238	p.Asp166Ala	rs781670372	missense variant	-	NC_000004.12:g.95125033A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Val	rs781670372	missense variant	-	NC_000004.12:g.95125033A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166Asn	rs752156962	missense variant	-	NC_000004.12:g.95125032G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp166His	rs752156962	missense variant	-	NC_000004.12:g.95125032G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu167Ala	rs1490974342	missense variant	-	NC_000004.12:g.95125036A>C	gnomAD
BMPR1B	O00238	p.Thr168Ser	rs373998952	missense variant	-	NC_000004.12:g.95125039C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Tyr169Ser	rs769948288	missense variant	-	NC_000004.12:g.95125042A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Phe	rs778170724	missense variant	-	NC_000004.12:g.95125044A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Met	rs768768926	missense variant	-	NC_000004.12:g.95125046T>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile170Val	rs778170724	missense variant	-	NC_000004.12:g.95125044A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Thr	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile170Ser	rs1022330839	missense variant	-	NC_000004.12:g.95125045T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Cys	rs367777041	missense variant	-	NC_000004.12:g.95125060C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Phe	rs367777041	missense variant	-	NC_000004.12:g.95125060C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Ala	rs143554488	missense variant	-	NC_000004.12:g.95125059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser175Pro	rs143554488	missense variant	-	NC_000004.12:g.95125059T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu176Pro	rs771747962	missense variant	-	NC_000004.12:g.95125063T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu176Val	rs1337920731	missense variant	-	NC_000004.12:g.95125062C>G	TOPMed
BMPR1B	O00238	p.Arg177Gly	rs773000162	missense variant	-	NC_000004.12:g.95125065A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp178Asn	rs1442468616	missense variant	-	NC_000004.12:g.95125068G>A	gnomAD
BMPR1B	O00238	p.Leu179Phe	rs766089514	missense variant	-	NC_000004.12:g.95125073A>C	ExAC,gnomAD
BMPR1B	O00238	p.Leu179Ser	rs911866039	missense variant	-	NC_000004.12:g.95125072T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Ile180Thr	rs776445882	missense variant	-	NC_000004.12:g.95125075T>C	ExAC
BMPR1B	O00238	p.Ile180Asn	rs776445882	missense variant	-	NC_000004.12:g.95125075T>A	ExAC
BMPR1B	O00238	p.Gln182His	rs1362547455	missense variant	-	NC_000004.12:g.95125082G>T	gnomAD
BMPR1B	O00238	p.Gln182Arg	rs1384205404	missense variant	-	NC_000004.12:g.95125081A>G	TOPMed
BMPR1B	O00238	p.Ser183Pro	rs141691706	missense variant	-	NC_000004.12:g.95125083T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser183Pro	RCV000664165	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000004.12:g.95125083T>C	ClinVar
BMPR1B	O00238	p.Ser183Thr	rs141691706	missense variant	-	NC_000004.12:g.95125083T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly187Ala	rs200839585	missense variant	-	NC_000004.12:g.95125096G>C	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Leu194Val	rs757843329	missense variant	-	NC_000004.12:g.95125116C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Arg	rs767925715	missense variant	-	NC_000004.12:g.95125117T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Pro	rs767925715	missense variant	-	NC_000004.12:g.95125117T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Leu194Gln	rs767925715	missense variant	-	NC_000004.12:g.95125117T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile200Val	rs750954022	missense variant	-	NC_000004.12:g.95129874A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt,dbSNP
BMPR1B	O00238	p.Ile200Lys	VAR_023819	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95129875T>A	UniProt
BMPR1B	O00238	p.Ile200Lys	rs121434417	missense variant	-	NC_000004.12:g.95129875T>A	-
BMPR1B	O00238	p.Ile200Lys	RCV000006933	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129875T>A	ClinVar
BMPR1B	O00238	p.Lys202Arg	rs185062260	missense variant	-	NC_000004.12:g.95129881A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Lys202Arg	RCV000766164	missense variant	-	NC_000004.12:g.95129881A>G	ClinVar
BMPR1B	O00238	p.Gln205Glu	rs766791531	missense variant	-	NC_000004.12:g.95129889C>G	ExAC,gnomAD
BMPR1B	O00238	p.Met206Val	rs1344379581	missense variant	-	NC_000004.12:g.95129892A>G	TOPMed
BMPR1B	O00238	p.Lys208Gln	rs1260652488	missense variant	-	NC_000004.12:g.95129898A>C	gnomAD
BMPR1B	O00238	p.Gln209Glu	rs1299044974	missense variant	-	NC_000004.12:g.95129901C>G	TOPMed
BMPR1B	O00238	p.Gln209Pro	rs1176798119	missense variant	-	NC_000004.12:g.95129902A>C	gnomAD
BMPR1B	O00238	p.Ile210Val	rs754044696	missense variant	-	NC_000004.12:g.95129904A>G	ExAC,gnomAD
BMPR1B	O00238	p.Arg214Ser	RCV000519599	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95129916C>A	ClinVar
BMPR1B	O00238	p.Arg214Ser	rs1553941890	missense variant	-	NC_000004.12:g.95129916C>A	-
BMPR1B	O00238	p.Arg214His	rs755131943	missense variant	-	NC_000004.12:g.95129917G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly216Ala	rs779006691	missense variant	-	NC_000004.12:g.95129923G>C	ExAC,gnomAD
BMPR1B	O00238	p.Glu217Lys	rs748217063	missense variant	-	NC_000004.12:g.95129925G>A	ExAC,gnomAD
BMPR1B	O00238	p.Val218Asp	rs1303785017	missense variant	-	NC_000004.12:g.95129929T>A	TOPMed
BMPR1B	O00238	p.Trp219Ter	rs863225042	stop gained	-	NC_000004.12:g.95129933G>A	-
BMPR1B	O00238	p.Trp219Ter	RCV000201044	nonsense	Acromesomelic dysplasia, Demirhan type (AMDD)	NC_000004.12:g.95129933G>A	ClinVar
BMPR1B	O00238	p.Lys222Glu	rs758429876	missense variant	-	NC_000004.12:g.95129940A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys222Thr	rs957165736	missense variant	-	NC_000004.12:g.95129941A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Trp223Cys	rs1295971366	missense variant	-	NC_000004.12:g.95129945G>C	TOPMed
BMPR1B	O00238	p.Arg224Cys	rs777745046	missense variant	-	NC_000004.12:g.95129946C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	RCV000386085	missense variant	Brachydactyly	NC_000004.12:g.95129947G>A	ClinVar
BMPR1B	O00238	p.Arg224Leu	rs35973133	missense variant	-	NC_000004.12:g.95129947G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg224His	rs35973133	missense variant	-	NC_000004.12:g.95129947G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg224His	VAR_041403	missense variant	-	NC_000004.12:g.95129947G>A	UniProt
BMPR1B	O00238	p.Lys227Gln	rs574398307	missense variant	-	NC_000004.12:g.95129955A>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Asn	rs1200045028	missense variant	-	NC_000004.12:g.95129957G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Glu	rs574398307	missense variant	-	NC_000004.12:g.95129955A>G	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys227Met	rs372556235	missense variant	-	NC_000004.12:g.95129956A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val228Ile	rs745674753	missense variant	-	NC_000004.12:g.95129958G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ala229Val	rs769423606	missense variant	-	NC_000004.12:g.95129962C>T	ExAC,gnomAD
BMPR1B	O00238	p.Lys231Ter	rs1207219833	stop gained	-	NC_000004.12:g.95129967A>T	gnomAD
BMPR1B	O00238	p.Phe234Leu	rs536641256	missense variant	-	NC_000004.12:g.95129978C>A	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Thr236Ala	rs1468067202	missense variant	-	NC_000004.12:g.95129982A>G	gnomAD
BMPR1B	O00238	p.Ala239Ser	rs773700021	missense variant	-	NC_000004.12:g.95129991G>T	ExAC,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Cys	rs754133041	missense variant	-	NC_000004.12:g.95130001T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Tyr	rs754133041	missense variant	-	NC_000004.12:g.95130001T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Val	rs761226009	missense variant	-	NC_000004.12:g.95130000T>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ile	rs761226009	missense variant	-	NC_000004.12:g.95130000T>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs761226009	missense variant	-	NC_000004.12:g.95130000T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Ser	rs754133041	missense variant	-	NC_000004.12:g.95130001T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Phe242Leu	rs376819253	missense variant	-	NC_000004.12:g.95130002C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	RCV000328112	missense variant	Brachydactyly	NC_000004.12:g.95130004G>A	ClinVar
BMPR1B	O00238	p.Arg243Gly	rs755476693	missense variant	-	NC_000004.12:g.95130003A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Ser	rs1306782325	missense variant	-	NC_000004.12:g.95130005A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg243Lys	rs886059731	missense variant	-	NC_000004.12:g.95130004G>A	gnomAD
BMPR1B	O00238	p.Thr245Arg	rs751532146	missense variant	-	NC_000004.12:g.95130010C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr245Lys	rs751532146	missense variant	-	NC_000004.12:g.95130010C>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Val	rs779737736	missense variant	-	NC_000004.12:g.95130013A>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Gly	rs779737736	missense variant	-	NC_000004.12:g.95130013A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Lys	rs369168607	missense variant	-	NC_000004.12:g.95130012G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Gln	rs369168607	missense variant	-	NC_000004.12:g.95130012G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Ala	rs779737736	missense variant	-	NC_000004.12:g.95130013A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Glu246Asp	rs748957679	missense variant	-	NC_000004.12:g.95130014A>T	ExAC,gnomAD
BMPR1B	O00238	p.Ile247Met	rs1270927104	missense variant	-	NC_000004.12:g.95130017A>G	gnomAD
BMPR1B	O00238	p.Gln249Arg	rs187868598	missense variant	-	NC_000004.12:g.95130022A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Gln249Leu	rs187868598	missense variant	-	NC_000004.12:g.95130022A>T	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249His	rs887578785	missense variant	-	NC_000004.12:g.95130023G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Ter	rs142696562	stop gained	-	NC_000004.12:g.95130021C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gln249Glu	rs142696562	missense variant	-	NC_000004.12:g.95130021C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr250Pro	rs1223084316	missense variant	-	NC_000004.12:g.95130024A>C	gnomAD
BMPR1B	O00238	p.Thr250Ile	rs771385869	missense variant	-	NC_000004.12:g.95130025C>T	ExAC,gnomAD
BMPR1B	O00238	p.Val251Gly	rs1463003460	missense variant	-	NC_000004.12:g.95130028T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met253Leu	rs948475886	missense variant	-	NC_000004.12:g.95130033A>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met253Thr	rs1044164391	missense variant	-	NC_000004.12:g.95130034T>C	gnomAD
BMPR1B	O00238	p.Met253Ile	rs200446727	missense variant	-	NC_000004.12:g.95130035G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg254Ser	RCV000384921	missense variant	Brachydactyly	NC_000004.12:g.95130038G>T	ClinVar
BMPR1B	O00238	p.Arg254Ser	rs200198618	missense variant	-	NC_000004.12:g.95130038G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn257Asp	RCV000480897	missense variant	-	NC_000004.12:g.95130045A>G	ClinVar
BMPR1B	O00238	p.Asn257Asp	rs201034260	missense variant	-	NC_000004.12:g.95130045A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile258Val	rs1473660478	missense variant	-	NC_000004.12:g.95130048A>G	TOPMed
BMPR1B	O00238	p.Gly260Val	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Gly260Asp	rs1268550390	missense variant	-	NC_000004.12:g.95131215G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Phe261Tyr	rs375308110	missense variant	-	NC_000004.12:g.95131218T>A	ESP,ExAC
BMPR1B	O00238	p.Ile262Val	rs761965542	missense variant	-	NC_000004.12:g.95131220A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Ser	rs767750336	missense variant	-	NC_000004.12:g.95131226G>T	ExAC,gnomAD
BMPR1B	O00238	p.Ala264Thr	rs767750336	missense variant	-	NC_000004.12:g.95131226G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ile266Val	rs1267095165	missense variant	-	NC_000004.12:g.95131232A>G	gnomAD
BMPR1B	O00238	p.Gly270Glu	rs750357066	missense variant	-	NC_000004.12:g.95131245G>A	ExAC,gnomAD
BMPR1B	O00238	p.Gln274His	rs1414676286	missense variant	-	NC_000004.12:g.95131258G>C	gnomAD
BMPR1B	O00238	p.Gln274Glu	rs1183108551	missense variant	-	NC_000004.12:g.95131256C>G	gnomAD
BMPR1B	O00238	p.Leu277Val	rs755942515	missense variant	-	NC_000004.12:g.95131265C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr279Ile	rs147336783	missense variant	-	NC_000004.12:g.95131272C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp280Asn	rs551370449	missense variant	-	NC_000004.12:g.95131274G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp280Glu	rs1401526219	missense variant	-	NC_000004.12:g.95131276C>G	gnomAD
BMPR1B	O00238	p.Tyr281Cys	rs1395395990	missense variant	-	NC_000004.12:g.95131278A>G	TOPMed,gnomAD
BMPR1B	O00238	p.His282Gln	rs371779248	missense variant	-	NC_000004.12:g.95131282T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.His282Tyr	rs556937566	missense variant	-	NC_000004.12:g.95131280C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Gly285Asp	rs1226334806	missense variant	-	NC_000004.12:g.95131290G>A	gnomAD
BMPR1B	O00238	p.Leu287Val	rs1478767431	missense variant	-	NC_000004.12:g.95131295C>G	TOPMed
BMPR1B	O00238	p.Tyr288His	rs746544755	missense variant	-	NC_000004.12:g.95131298T>C	ExAC,gnomAD
BMPR1B	O00238	p.Tyr288Asn	rs746544755	missense variant	-	NC_000004.12:g.95131298T>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr290His	rs770135176	missense variant	-	NC_000004.12:g.95131304T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys292Asn	rs1180765631	missense variant	-	NC_000004.12:g.95131312G>T	TOPMed
BMPR1B	O00238	p.Lys292Arg	rs1001539320	missense variant	-	NC_000004.12:g.95131311A>G	gnomAD
BMPR1B	O00238	p.Ser293Cys	rs1206508270	missense variant	-	NC_000004.12:g.95131314C>G	gnomAD
BMPR1B	O00238	p.Thr294Ser	rs1471841789	missense variant	-	NC_000004.12:g.95131317C>G	gnomAD
BMPR1B	O00238	p.Thr295Ile	rs1481774294	missense variant	-	NC_000004.12:g.95131320C>T	TOPMed
BMPR1B	O00238	p.Asp297Ala	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>C	gnomAD
BMPR1B	O00238	p.Asp297Glu	rs112111860	missense variant	-	NC_000004.12:g.95131327C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp297His	rs1205132180	missense variant	-	NC_000004.12:g.95131325G>C	TOPMed
BMPR1B	O00238	p.Asp297Gly	rs1435147011	missense variant	-	NC_000004.12:g.95131326A>G	gnomAD
BMPR1B	O00238	p.Asp297Asn	VAR_041404	Missense	-	-	UniProt
BMPR1B	O00238	p.Ala298Thr	rs373000965	missense variant	-	NC_000004.12:g.95131328G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Gln	rs762320529	missense variant	-	NC_000004.12:g.95131331A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Arg	rs773095683	missense variant	-	NC_000004.12:g.95131332A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Glu	rs762320529	missense variant	-	NC_000004.12:g.95131331A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys299Asn	rs760837301	missense variant	-	NC_000004.12:g.95131333A>C	ExAC,gnomAD
BMPR1B	O00238	p.Met301Val	rs199613098	missense variant	-	NC_000004.12:g.95131337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met301Ile	rs753862322	missense variant	-	NC_000004.12:g.95131339G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys303Gln	rs370428276	missense variant	-	NC_000004.12:g.95131343A>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala305Thr	rs765766633	missense variant	-	NC_000004.12:g.95131349G>A	ExAC,gnomAD
BMPR1B	O00238	p.Tyr306Cys	rs1228462504	missense variant	-	NC_000004.12:g.95131353A>G	gnomAD
BMPR1B	O00238	p.Val309Ile	rs757988979	missense variant	-	NC_000004.12:g.95131361G>A	ExAC,gnomAD
BMPR1B	O00238	p.Ser310Gly	rs777487568	missense variant	-	NC_000004.12:g.95131364A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr317Ile	rs1358949370	missense variant	-	NC_000004.12:g.95131386C>T	TOPMed
BMPR1B	O00238	p.Glu318Gln	rs750995828	missense variant	-	NC_000004.12:g.95131388G>C	ExAC,gnomAD
BMPR1B	O00238	p.Phe320Ser	rs756816303	missense variant	-	NC_000004.12:g.95131395T>C	ExAC,gnomAD
BMPR1B	O00238	p.Thr322Ile	rs1332563913	missense variant	-	NC_000004.12:g.95131401C>T	TOPMed
BMPR1B	O00238	p.Lys325Asn	RCV000208782	missense variant	Brachydactyly, type a1, d (BDA1D)	NC_000004.12:g.95131411A>C	ClinVar
BMPR1B	O00238	p.Lys325Asn	rs869025614	missense variant	-	NC_000004.12:g.95131411A>C	-
BMPR1B	O00238	p.Ala327Val	rs1157918508	missense variant	-	NC_000004.12:g.95131416C>T	TOPMed
BMPR1B	O00238	p.Ala327Ser	rs141032424	missense variant	-	NC_000004.12:g.95131415G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala327Thr	rs141032424	missense variant	-	NC_000004.12:g.95131415G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile328Val	rs1170531805	missense variant	-	NC_000004.12:g.95131418A>G	gnomAD
BMPR1B	O00238	p.Ala329Val	rs1471363374	missense variant	-	NC_000004.12:g.95131422C>T	TOPMed
BMPR1B	O00238	p.His330Tyr	rs1177728492	missense variant	-	NC_000004.12:g.95131424C>T	TOPMed
BMPR1B	O00238	p.Arg331Gly	rs376126706	missense variant	-	NC_000004.12:g.95131427C>G	ESP,ExAC,gnomAD
BMPR1B	O00238	p.Arg331Gln	rs1427765668	missense variant	-	NC_000004.12:g.95131428G>A	gnomAD
BMPR1B	O00238	p.Leu333Val	rs978472184	missense variant	-	NC_000004.12:g.95131433C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Val	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile338Leu	rs1167826885	missense variant	-	NC_000004.12:g.95131448A>C	TOPMed,gnomAD
BMPR1B	O00238	p.Val340Met	rs779359224	missense variant	-	NC_000004.12:g.95131454G>A	ExAC,gnomAD
BMPR1B	O00238	p.Lys341Met	rs1438345481	missense variant	-	NC_000004.12:g.95131458A>T	gnomAD
BMPR1B	O00238	p.Lys342Glu	rs748524936	missense variant	-	NC_000004.12:g.95131460A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys342Gln	rs748524936	missense variant	-	NC_000004.12:g.95131460A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn343Asp	rs1264056613	missense variant	-	NC_000004.12:g.95131463A>G	TOPMed
BMPR1B	O00238	p.Thr345Ser	rs773503299	missense variant	-	NC_000004.12:g.95131470C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile348Val	rs1339367828	missense variant	-	NC_000004.12:g.95131478A>G	gnomAD
BMPR1B	O00238	p.Val355Leu	rs1224854340	missense variant	-	NC_000004.12:g.95131499G>C	TOPMed
BMPR1B	O00238	p.Lys356Thr	rs1282921509	missense variant	-	NC_000004.12:g.95131503A>C	TOPMed
BMPR1B	O00238	p.Phe357Cys	rs528180688	missense variant	-	NC_000004.12:g.95131506T>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ile358Val	rs1454953723	missense variant	-	NC_000004.12:g.95131508A>G	TOPMed
BMPR1B	O00238	p.Ser359Gly	rs201289177	missense variant	-	NC_000004.12:g.95131511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asp360Gly	rs763992306	missense variant	-	NC_000004.12:g.95148750A>G	ExAC,gnomAD
BMPR1B	O00238	p.Thr361Lys	rs1416896677	missense variant	-	NC_000004.12:g.95148753C>A	TOPMed,gnomAD
BMPR1B	O00238	p.Thr361Ala	rs1179983257	missense variant	-	NC_000004.12:g.95148752A>G	gnomAD
BMPR1B	O00238	p.Val364Ala	rs773874757	missense variant	-	NC_000004.12:g.95148762T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val364Phe	rs1416959162	missense variant	-	NC_000004.12:g.95148761G>T	gnomAD
BMPR1B	O00238	p.Asp365Val	rs1385960904	missense variant	-	NC_000004.12:g.95148765A>T	gnomAD
BMPR1B	O00238	p.Asp365Asn	rs761588488	missense variant	-	NC_000004.12:g.95148764G>A	ExAC,gnomAD
BMPR1B	O00238	p.Asp365Glu	rs1456285512	missense variant	-	NC_000004.12:g.95148766C>A	gnomAD
BMPR1B	O00238	p.Ile366Val	rs767077000	missense variant	-	NC_000004.12:g.95148767A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ile366Arg	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>G	TOPMed,gnomAD
BMPR1B	O00238	p.Ile366Thr	rs1025931662	missense variant	-	NC_000004.12:g.95148768T>C	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Arg	rs1284054241	missense variant	-	NC_000004.12:g.95148771C>G	TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Thr	rs148550671	missense variant	-	NC_000004.12:g.95148770C>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro367Ser	rs148550671	missense variant	-	NC_000004.12:g.95148770C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Ser	rs577188671	missense variant	-	NC_000004.12:g.95148773C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro368Ser	RCV000379873	missense variant	Brachydactyly	NC_000004.12:g.95148773C>T	ClinVar
BMPR1B	O00238	p.Pro368Arg	rs1286747826	missense variant	-	NC_000004.12:g.95148774C>G	gnomAD
BMPR1B	O00238	p.Asn369Ser	rs747347346	missense variant	-	NC_000004.12:g.95148777A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn369Asp	rs778257341	missense variant	-	NC_000004.12:g.95148776A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Asn369Asp	RCV000283012	missense variant	Brachydactyly	NC_000004.12:g.95148776A>G	ClinVar
BMPR1B	O00238	p.Thr370Ser	rs757434006	missense variant	-	NC_000004.12:g.95148779A>T	ExAC,gnomAD
BMPR1B	O00238	p.Thr370Ile	rs781424907	missense variant	-	NC_000004.12:g.95148780C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Leu	rs34970181	missense variant	-	NC_000004.12:g.95148783G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg371Leu	RCV000340460	missense variant	Brachydactyly	NC_000004.12:g.95148783G>T	ClinVar
BMPR1B	O00238	p.Arg371Gln	RCV000685866	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95148783G>A	ClinVar
BMPR1B	O00238	p.Arg371Gln	rs34970181	missense variant	-	NC_000004.12:g.95148783G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg371Gln	VAR_041405	missense variant	-	NC_000004.12:g.95148783G>A	UniProt
BMPR1B	O00238	p.Arg371Pro	rs34970181	missense variant	-	NC_000004.12:g.95148783G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg376Cys	rs768328319	missense variant	-	NC_000004.12:g.95148797C>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr377Cys	rs559805218	missense variant	-	NC_000004.12:g.95148801A>G	1000Genomes
BMPR1B	O00238	p.Met378Arg	rs1292399504	missense variant	-	NC_000004.12:g.95148804T>G	TOPMed
BMPR1B	O00238	p.Ser386Thr	rs1204148833	missense variant	-	NC_000004.12:g.95148828G>C	gnomAD
BMPR1B	O00238	p.Leu387Phe	rs1426672160	missense variant	-	NC_000004.12:g.95148832G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Arg389Gly	rs760241910	missense variant	-	NC_000004.12:g.95148836A>G	ExAC,gnomAD
BMPR1B	O00238	p.Asn390Ser	rs766046737	missense variant	-	NC_000004.12:g.95148840A>G	ExAC,gnomAD
BMPR1B	O00238	p.His391Arg	rs943183996	missense variant	-	NC_000004.12:g.95148843A>G	gnomAD
BMPR1B	O00238	p.His391Pro	rs943183996	missense variant	-	NC_000004.12:g.95148843A>C	gnomAD
BMPR1B	O00238	p.Phe392Ser	rs753253207	missense variant	-	NC_000004.12:g.95148846T>C	ExAC,gnomAD
BMPR1B	O00238	p.Phe392Leu	rs1412113319	missense variant	-	NC_000004.12:g.95148847C>G	gnomAD
BMPR1B	O00238	p.Phe392Val	rs1464900722	missense variant	-	NC_000004.12:g.95148845T>G	TOPMed
BMPR1B	O00238	p.Gln393His	rs758874215	missense variant	-	NC_000004.12:g.95148850G>T	ExAC,gnomAD
BMPR1B	O00238	p.Tyr395Ser	rs1350190350	missense variant	-	NC_000004.12:g.95148855A>C	gnomAD
BMPR1B	O00238	p.Met397Val	rs548452438	missense variant	-	NC_000004.12:g.95148860A>G	1000Genomes,ExAC,gnomAD
BMPR1B	O00238	p.Ala398Thr	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ala398Ser	rs1276820746	missense variant	-	NC_000004.12:g.95148863G>T	TOPMed,gnomAD
BMPR1B	O00238	p.Met400Ile	rs1279570525	missense variant	-	NC_000004.12:g.95148871G>A	gnomAD
BMPR1B	O00238	p.Met400Val	rs757593146	missense variant	-	NC_000004.12:g.95148869A>G	ExAC,gnomAD
BMPR1B	O00238	p.Phe403Val	rs1207154351	missense variant	-	NC_000004.12:g.95148878T>G	gnomAD
BMPR1B	O00238	p.Val410Leu	rs746134819	missense variant	-	NC_000004.12:g.95148899G>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Val410Phe	rs746134819	missense variant	-	NC_000004.12:g.95148899G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala411Thr	rs969503674	missense variant	-	NC_000004.12:g.95148902G>A	TOPMed
BMPR1B	O00238	p.Arg412Gly	rs1190618723	missense variant	-	NC_000004.12:g.95148905A>G	TOPMed
BMPR1B	O00238	p.Arg412Lys	rs561948192	missense variant	-	NC_000004.12:g.95148906G>A	1000Genomes,TOPMed
BMPR1B	O00238	p.Arg413Thr	rs780171269	missense variant	-	NC_000004.12:g.95148909G>C	ExAC,gnomAD
BMPR1B	O00238	p.Arg413Ser	rs186299744	missense variant	-	NC_000004.12:g.95148910A>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Cys414Arg	rs980823830	missense variant	-	NC_000004.12:g.95148911T>C	TOPMed
BMPR1B	O00238	p.Cys414Tyr	rs1476786316	missense variant	-	NC_000004.12:g.95148912G>A	gnomAD
BMPR1B	O00238	p.Gly418Asp	rs1248109194	missense variant	-	NC_000004.12:g.95152643G>A	gnomAD
BMPR1B	O00238	p.Ile419Thr	rs1450785068	missense variant	-	NC_000004.12:g.95152646T>C	gnomAD
BMPR1B	O00238	p.Val420Ala	rs1249589876	missense variant	-	NC_000004.12:g.95152649T>C	TOPMed
BMPR1B	O00238	p.His428Asp	rs1447783996	missense variant	-	NC_000004.12:g.95152672C>G	TOPMed
BMPR1B	O00238	p.His428Gln	rs1313808319	missense variant	-	NC_000004.12:g.95152674T>A	gnomAD
BMPR1B	O00238	p.Leu430Val	rs1208101811	missense variant	-	NC_000004.12:g.95152678C>G	TOPMed
BMPR1B	O00238	p.Pro432Leu	rs1458772834	missense variant	-	NC_000004.12:g.95152685C>T	gnomAD
BMPR1B	O00238	p.Ser433Asn	rs1165392388	missense variant	-	NC_000004.12:g.95152688G>A	gnomAD
BMPR1B	O00238	p.Pro435Leu	rs985981901	missense variant	-	NC_000004.12:g.95152694C>T	TOPMed
BMPR1B	O00238	p.Met440Leu	rs376221874	missense variant	-	NC_000004.12:g.95152708A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met440Val	rs376221874	missense variant	-	NC_000004.12:g.95152708A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Thr	rs879008149	missense variant	-	NC_000004.12:g.95152712G>C	TOPMed,gnomAD
BMPR1B	O00238	p.Arg441Lys	rs879008149	missense variant	-	NC_000004.12:g.95152712G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Ile443Met	rs1432975995	missense variant	-	NC_000004.12:g.95152719T>G	gnomAD
BMPR1B	O00238	p.Ile443Thr	rs752045710	missense variant	-	NC_000004.12:g.95152718T>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile446Leu	rs1325757207	missense variant	-	NC_000004.12:g.95152726A>C	gnomAD
BMPR1B	O00238	p.Lys447Arg	rs371436999	missense variant	-	NC_000004.12:g.95152730A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Pro451Ser	rs1321058552	missense variant	-	NC_000004.12:g.95152741C>T	TOPMed
BMPR1B	O00238	p.Asn455His	rs756258100	missense variant	-	NC_000004.12:g.95152753A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gly	rs780280883	missense variant	-	NC_000004.12:g.95152756C>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Gln	rs140047318	missense variant	-	NC_000004.12:g.95152757G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Trp	rs780280883	missense variant	-	NC_000004.12:g.95152756C>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Leu	rs140047318	missense variant	-	NC_000004.12:g.95152757G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Arg456Pro	rs140047318	missense variant	-	NC_000004.12:g.95152757G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ser458Asn	rs1260383981	missense variant	-	NC_000004.12:g.95152763G>A	gnomAD
BMPR1B	O00238	p.Ser459Asn	rs1190153129	missense variant	-	NC_000004.12:g.95152766G>A	gnomAD
BMPR1B	O00238	p.Ser459Arg	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>C	gnomAD
BMPR1B	O00238	p.Ser459Gly	rs1424924349	missense variant	-	NC_000004.12:g.95152765A>G	gnomAD
BMPR1B	O00238	p.Glu461Lys	rs1367092167	missense variant	-	NC_000004.12:g.95152771G>A	TOPMed,gnomAD
BMPR1B	O00238	p.Cys462Tyr	rs766596192	missense variant	-	NC_000004.12:g.95154549G>A	ExAC,gnomAD
BMPR1B	O00238	p.Cys462Phe	rs766596192	missense variant	-	NC_000004.12:g.95154549G>T	ExAC,gnomAD
BMPR1B	O00238	p.Arg464Ser	rs1308433194	missense variant	-	NC_000004.12:g.95154556G>T	gnomAD
BMPR1B	O00238	p.Gln465Arg	rs369609245	missense variant	-	NC_000004.12:g.95154558A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Met466Leu	rs778929099	missense variant	-	NC_000004.12:g.95154560A>T	ExAC,gnomAD
BMPR1B	O00238	p.Gly467Ala	rs1305848208	missense variant	-	NC_000004.12:g.95154564G>C	gnomAD
BMPR1B	O00238	p.Met470Thr	rs1234757133	missense variant	-	NC_000004.12:g.95154573T>C	gnomAD
BMPR1B	O00238	p.Thr471Ala	rs752827445	missense variant	-	NC_000004.12:g.95154575A>G	ExAC,gnomAD
BMPR1B	O00238	p.Ala479Val	rs1241726567	missense variant	-	NC_000004.12:g.95154600C>T	TOPMed
BMPR1B	O00238	p.Ala479Ser	rs746760963	missense variant	-	NC_000004.12:g.95154599G>T	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ala479Thr	rs746760963	missense variant	-	NC_000004.12:g.95154599G>A	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Thr483Ile	RCV000444497	missense variant	-	NC_000004.12:g.95154612C>T	ClinVar
BMPR1B	O00238	p.Thr483Ala	rs1435017955	missense variant	-	NC_000004.12:g.95154611A>G	gnomAD
BMPR1B	O00238	p.Thr483Ile	rs1057521819	missense variant	-	NC_000004.12:g.95154612C>T	-
BMPR1B	O00238	p.Ala484Ser	rs769339843	missense variant	-	NC_000004.12:g.95154614G>T	ExAC,gnomAD
BMPR1B	O00238	p.Ala484Val	rs1394503432	missense variant	-	NC_000004.12:g.95154615C>T	gnomAD
BMPR1B	O00238	p.Arg486Gln	RCV000006936	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154621G>A	ClinVar
BMPR1B	O00238	p.Arg486Trp	RCV000006934	missense variant	Type A2 brachydactyly (BDA2)	NC_000004.12:g.95154620C>T	ClinVar
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	-	NC_000004.12:g.95154620C>T	-
BMPR1B	O00238	p.Arg486Trp	rs121434418	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Trp	VAR_023820	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154620C>T	UniProt
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt,dbSNP
BMPR1B	O00238	p.Arg486Gln	VAR_037967	missense variant	Brachydactyly A2 (BDA2)	NC_000004.12:g.95154621G>A	UniProt
BMPR1B	O00238	p.Arg486Gln	rs121434419	missense variant	-	NC_000004.12:g.95154621G>A	-
BMPR1B	O00238	p.Val487Ile	rs369899177	missense variant	-	NC_000004.12:g.95154623G>A	ESP
BMPR1B	O00238	p.Leu491Val	rs748806114	missense variant	-	NC_000004.12:g.95154635C>G	ExAC,gnomAD
BMPR1B	O00238	p.Ser497Ala	rs1460265958	missense variant	-	NC_000004.12:g.95154653T>G	gnomAD
BMPR1B	O00238	p.Gln498Ter	rs1297303851	stop gained	-	NC_000004.12:g.95154656C>T	gnomAD
BMPR1B	O00238	p.Gln498Arg	rs773752951	missense variant	-	NC_000004.12:g.95154657A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Ile500Thr	rs761009116	missense variant	-	NC_000004.12:g.95154663T>C	ExAC,gnomAD
BMPR1B	O00238	p.Ile500Val	rs1300655982	missense variant	-	NC_000004.12:g.95154662A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Glu	rs1229797838	missense variant	-	NC_000004.12:g.95154665A>G	TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Arg	rs766714132	missense variant	-	NC_000004.12:g.95154666A>G	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.Lys501Thr	rs766714132	missense variant	-	NC_000004.12:g.95154666A>C	ExAC,TOPMed,gnomAD
BMPR1B	O00238	p.LeuTer502LeuUnk	rs1443065466	stop lost	-	NC_000004.12:g.95154670_95154671del	TOPMed
FOXE1	O00358	p.Glu4Lys	rs1219555747	missense variant	-	NC_000009.12:g.97853924G>A	gnomAD
FOXE1	O00358	p.Gly6Val	rs1053172791	missense variant	-	NC_000009.12:g.97853931G>T	TOPMed
FOXE1	O00358	p.Gly6Trp	rs944496563	missense variant	-	NC_000009.12:g.97853930G>T	TOPMed
FOXE1	O00358	p.Gly6Glu	rs1053172791	missense variant	-	NC_000009.12:g.97853931G>A	TOPMed
FOXE1	O00358	p.Pro7Leu	rs974791592	missense variant	-	NC_000009.12:g.97853934C>T	TOPMed
FOXE1	O00358	p.Pro10Arg	rs1418050237	missense variant	-	NC_000009.12:g.97853943C>G	TOPMed,gnomAD
FOXE1	O00358	p.Pro10Leu	rs1418050237	missense variant	-	NC_000009.12:g.97853943C>T	TOPMed,gnomAD
FOXE1	O00358	p.Pro12Ser	rs1022277405	missense variant	-	NC_000009.12:g.97853948C>T	TOPMed
FOXE1	O00358	p.Val14Met	rs1345434944	missense variant	-	NC_000009.12:g.97853954G>A	TOPMed
FOXE1	O00358	p.Leu15Gln	rs930856361	missense variant	-	NC_000009.12:g.97853958T>A	gnomAD
FOXE1	O00358	p.Thr17Ile	rs1002081447	missense variant	-	NC_000009.12:g.97853964C>T	TOPMed
FOXE1	O00358	p.Val18Met	rs1457834748	missense variant	-	NC_000009.12:g.97853966G>A	gnomAD
FOXE1	O00358	p.Glu21Gln	rs1362855105	missense variant	-	NC_000009.12:g.97853975G>C	TOPMed,gnomAD
FOXE1	O00358	p.Arg22Gly	rs886732503	missense variant	-	NC_000009.12:g.97853978C>G	TOPMed
FOXE1	O00358	p.Arg22Cys	rs886732503	missense variant	-	NC_000009.12:g.97853978C>T	TOPMed
FOXE1	O00358	p.Thr25Met	rs1398481804	missense variant	-	NC_000009.12:g.97853988C>T	gnomAD
FOXE1	O00358	p.Ala26Thr	rs940833635	missense variant	-	NC_000009.12:g.97853990G>A	gnomAD
FOXE1	O00358	p.Ala26Ser	rs940833635	missense variant	-	NC_000009.12:g.97853990G>T	gnomAD
FOXE1	O00358	p.Gly30Arg	rs908320588	missense variant	-	NC_000009.12:g.97854002G>A	TOPMed,gnomAD
FOXE1	O00358	p.Pro32Leu	rs961011556	missense variant	-	NC_000009.12:g.97854009C>T	TOPMed
FOXE1	O00358	p.Thr36Arg	rs554583478	missense variant	-	NC_000009.12:g.97854021C>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Thr36Met	rs554583478	missense variant	-	NC_000009.12:g.97854021C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Arg38His	rs1287989288	missense variant	-	NC_000009.12:g.97854027G>A	gnomAD
FOXE1	O00358	p.Ala40Val	rs1299034539	missense variant	-	NC_000009.12:g.97854033C>T	TOPMed
FOXE1	O00358	p.Ala40Thr	rs752273041	missense variant	-	NC_000009.12:g.97854032G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly41Cys	rs1179653570	missense variant	-	NC_000009.12:g.97854035G>T	TOPMed,gnomAD
FOXE1	O00358	p.Gly41Ser	rs1179653570	missense variant	-	NC_000009.12:g.97854035G>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly42Glu	rs1419086662	missense variant	-	NC_000009.12:g.97854039G>A	gnomAD
FOXE1	O00358	p.Gly42Trp	rs1412441815	missense variant	-	NC_000009.12:g.97854038G>T	gnomAD
FOXE1	O00358	p.Arg43Leu	rs753617832	missense variant	-	NC_000009.12:g.97854042G>T	ExAC,gnomAD
FOXE1	O00358	p.Arg43Gly	rs1382651609	missense variant	-	NC_000009.12:g.97854041C>G	TOPMed,gnomAD
FOXE1	O00358	p.Arg45His	rs1359786027	missense variant	-	NC_000009.12:g.97854048G>A	TOPMed,gnomAD
FOXE1	O00358	p.Arg45Leu	rs1359786027	missense variant	-	NC_000009.12:g.97854048G>T	TOPMed,gnomAD
FOXE1	O00358	p.Arg45His	rs1359786027	missense variant	-	NC_000009.12:g.97854048G>A	NCI-TCGA
FOXE1	O00358	p.Arg47Cys	rs756989173	missense variant	-	NC_000009.12:g.97854053C>T	ExAC,gnomAD
FOXE1	O00358	p.Pro48Ala	rs1374194773	missense variant	-	NC_000009.12:g.97854056C>G	TOPMed
FOXE1	O00358	p.Pro48Leu	rs778685558	missense variant	-	NC_000009.12:g.97854057C>T	ExAC
FOXE1	O00358	p.Gln50Pro	rs750321507	missense variant	-	NC_000009.12:g.97854063A>C	ExAC,gnomAD
FOXE1	O00358	p.Arg51Gly	rs781113383	missense variant	-	NC_000009.12:g.97854065C>G	ExAC,gnomAD
FOXE1	O00358	p.Arg51Cys	rs781113383	missense variant	-	NC_000009.12:g.97854065C>T	ExAC,gnomAD
FOXE1	O00358	p.Gly52Arg	rs1429237743	missense variant	-	NC_000009.12:g.97854068G>C	TOPMed
FOXE1	O00358	p.Lys53Gln	rs748304632	missense variant	-	NC_000009.12:g.97854071A>C	ExAC,gnomAD
FOXE1	O00358	p.Pro54Ser	rs1351358930	missense variant	-	NC_000009.12:g.97854074C>T	gnomAD
FOXE1	O00358	p.Ser57Asn	RCV000007403	missense variant	Bamforth syndrome	NC_000009.12:g.97854084G>A	ClinVar
FOXE1	O00358	p.Ser57Asn	rs28937575	missense variant	-	NC_000009.12:g.97854084G>A	-
FOXE1	O00358	p.Ser57Asn	rs28937575	missense variant	Bamforth-Lazarus syndrome (BLS)	NC_000009.12:g.97854084G>A	UniProt,dbSNP
FOXE1	O00358	p.Ser57Asn	VAR_016882	missense variant	Bamforth-Lazarus syndrome (BLS)	NC_000009.12:g.97854084G>A	UniProt
FOXE1	O00358	p.Tyr58Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.97854088C>A	NCI-TCGA
FOXE1	O00358	p.Ala60Thr	rs1185055675	missense variant	-	NC_000009.12:g.97854092G>A	TOPMed
FOXE1	O00358	p.Met64Val	rs567993682	missense variant	-	NC_000009.12:g.97854104A>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Met64Leu	rs567993682	missense variant	-	NC_000009.12:g.97854104A>C	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Met64Arg	rs772682082	missense variant	-	NC_000009.12:g.97854105T>G	ExAC,gnomAD
FOXE1	O00358	p.Met64Leu	rs567993682	missense variant	-	NC_000009.12:g.97854104A>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala65Val	rs104894110	missense variant	Bamforth-Lazarus syndrome (BLS)	NC_000009.12:g.97854108C>T	UniProt,dbSNP
FOXE1	O00358	p.Ala65Val	VAR_008857	missense variant	Bamforth-Lazarus syndrome (BLS)	NC_000009.12:g.97854108C>T	UniProt
FOXE1	O00358	p.Ala65Val	rs104894110	missense variant	-	NC_000009.12:g.97854108C>T	ExAC,gnomAD
FOXE1	O00358	p.Ala65Val	RCV000007402	missense variant	Bamforth syndrome	NC_000009.12:g.97854108C>T	ClinVar
FOXE1	O00358	p.Ala67Thr	rs1438362739	missense variant	-	NC_000009.12:g.97854113G>A	TOPMed,gnomAD
FOXE1	O00358	p.Ala67Gly	rs999295917	missense variant	-	NC_000009.12:g.97854114C>G	TOPMed,gnomAD
FOXE1	O00358	p.His68Gln	rs1416452979	missense variant	-	NC_000009.12:g.97854118C>A	gnomAD
FOXE1	O00358	p.His68Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97854118C>G	NCI-TCGA
FOXE1	O00358	p.Ala69Thr	rs1174239223	missense variant	-	NC_000009.12:g.97854119G>A	TOPMed,gnomAD
FOXE1	O00358	p.Pro70Ser	rs753424854	missense variant	-	NC_000009.12:g.97854122C>T	NCI-TCGA
FOXE1	O00358	p.Pro70Ser	rs753424854	missense variant	-	NC_000009.12:g.97854122C>T	ExAC,gnomAD
FOXE1	O00358	p.Glu71Lys	rs764965228	missense variant	-	NC_000009.12:g.97854125G>A	ExAC,gnomAD
FOXE1	O00358	p.Glu71Gly	rs750270191	missense variant	-	NC_000009.12:g.97854126A>G	ExAC,gnomAD
FOXE1	O00358	p.Glu71Lys	rs764965228	missense variant	-	NC_000009.12:g.97854125G>A	NCI-TCGA,NCI-TCGA Cosmic
FOXE1	O00358	p.Arg72Ser	rs758241371	missense variant	-	NC_000009.12:g.97854128C>A	ExAC,gnomAD
FOXE1	O00358	p.Arg72His	rs201022863	missense variant	-	NC_000009.12:g.97854129G>A	ExAC,gnomAD
FOXE1	O00358	p.Arg73Gly	rs1293473458	missense variant	-	NC_000009.12:g.97854131C>G	TOPMed
FOXE1	O00358	p.Arg73His	rs1277514335	missense variant	-	NC_000009.12:g.97854132G>A	gnomAD
FOXE1	O00358	p.Arg73Ser	VAR_075978	Missense	Bamforth-Lazarus syndrome (BLS) [MIM:241850]	-	UniProt
FOXE1	O00358	p.Leu74Ile	rs1318130446	missense variant	-	NC_000009.12:g.97854134C>A	gnomAD
FOXE1	O00358	p.Leu76Val	rs1200038300	missense variant	-	NC_000009.12:g.97854140C>G	gnomAD
FOXE1	O00358	p.Gly77Ser	rs966158331	missense variant	-	NC_000009.12:g.97854143G>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly78Ser	rs1456874527	missense variant	-	NC_000009.12:g.97854146G>A	gnomAD
FOXE1	O00358	p.Gly78Ser	rs1456874527	missense variant	-	NC_000009.12:g.97854146G>A	NCI-TCGA
FOXE1	O00358	p.Ile79Thr	rs777717860	missense variant	-	NC_000009.12:g.97854150T>C	ExAC,gnomAD
FOXE1	O00358	p.Ile79Val	rs1247742328	missense variant	-	NC_000009.12:g.97854149A>G	gnomAD
FOXE1	O00358	p.Tyr80Cys	rs757574472	missense variant	-	NC_000009.12:g.97854153A>G	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Tyr80Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.97854154C>G	NCI-TCGA
FOXE1	O00358	p.Lys81Thr	rs779396347	missense variant	-	NC_000009.12:g.97854156A>C	ExAC,gnomAD
FOXE1	O00358	p.Lys81Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97854156A>G	NCI-TCGA
FOXE1	O00358	p.Glu85Lys	rs772452631	missense variant	-	NC_000009.12:g.97854167G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Glu85Asp	rs141672301	missense variant	-	NC_000009.12:g.97854169G>T	ESP,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Glu85Gln	rs772452631	missense variant	-	NC_000009.12:g.97854167G>C	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Arg86Cys	rs1351511199	missense variant	-	NC_000009.12:g.97854170C>T	TOPMed,gnomAD
FOXE1	O00358	p.Arg86Ser	rs1351511199	missense variant	-	NC_000009.12:g.97854170C>A	TOPMed,gnomAD
FOXE1	O00358	p.Arg91Cys	rs768174425	missense variant	-	NC_000009.12:g.97854185C>T	ExAC,gnomAD
FOXE1	O00358	p.Arg91His	COSM2793168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854186G>A	NCI-TCGA Cosmic
FOXE1	O00358	p.Arg91Cys	rs768174425	missense variant	-	NC_000009.12:g.97854185C>T	NCI-TCGA,NCI-TCGA Cosmic
FOXE1	O00358	p.Asp92Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97854188G>A	NCI-TCGA
FOXE1	O00358	p.Lys95Arg	rs1480916945	missense variant	-	NC_000009.12:g.97854198A>G	TOPMed
FOXE1	O00358	p.Lys95Gln	rs578111309	missense variant	-	NC_000009.12:g.97854197A>C	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Trp97Leu	rs772990488	missense variant	-	NC_000009.12:g.97854204G>T	ExAC,gnomAD
FOXE1	O00358	p.Asn99Lys	rs1419680083	missense variant	-	NC_000009.12:g.97854211C>G	gnomAD
FOXE1	O00358	p.Asn99Asp	rs1219883840	missense variant	-	NC_000009.12:g.97854209A>G	gnomAD
FOXE1	O00358	p.Ser100Arg	rs762867846	missense variant	-	NC_000009.12:g.97854212A>C	ExAC,gnomAD
FOXE1	O00358	p.Ser100Thr	rs1196231064	missense variant	-	NC_000009.12:g.97854213G>C	TOPMed
FOXE1	O00358	p.Ile101Val	rs1478308136	missense variant	-	NC_000009.12:g.97854215A>G	gnomAD
FOXE1	O00358	p.Arg102His	rs1421696257	missense variant	-	NC_000009.12:g.97854219G>A	gnomAD
FOXE1	O00358	p.Arg102Cys	rs104894111	missense variant	-	NC_000009.12:g.97854218C>T	TOPMed
FOXE1	O00358	p.Arg102Cys	rs104894111	missense variant	-	NC_000009.12:g.97854218C>T	UniProt,dbSNP
FOXE1	O00358	p.Arg102Cys	VAR_027508	missense variant	-	NC_000009.12:g.97854218C>T	UniProt
FOXE1	O00358	p.Arg102His	rs1421696257	missense variant	-	NC_000009.12:g.97854219G>A	NCI-TCGA
FOXE1	O00358	p.Arg102Cys	RCV000007404	missense variant	Hypothyroidism, thyroidal, with spiky hair and cleft palate	NC_000009.12:g.97854218C>T	ClinVar
FOXE1	O00358	p.Thr106Ala	rs751443347	missense variant	-	NC_000009.12:g.97854230A>G	ExAC,gnomAD
FOXE1	O00358	p.Leu107Phe	rs1415937469	missense variant	-	NC_000009.12:g.97854233C>T	gnomAD
FOXE1	O00358	p.Asn108His	rs754900503	missense variant	-	NC_000009.12:g.97854236A>C	ExAC,gnomAD
FOXE1	O00358	p.Asn108Ser	rs764217545	missense variant	-	NC_000009.12:g.97854237A>G	ExAC,gnomAD
FOXE1	O00358	p.Asp109Glu	rs754019645	missense variant	-	NC_000009.12:g.97854241C>G	ExAC,gnomAD
FOXE1	O00358	p.Leu112Phe	rs757519887	missense variant	-	NC_000009.12:g.97854248C>T	ExAC,gnomAD
FOXE1	O00358	p.Pro115Ser	rs746092247	missense variant	-	NC_000009.12:g.97854257C>T	ExAC,gnomAD
FOXE1	O00358	p.Pro115Leu	rs758723116	missense variant	-	NC_000009.12:g.97854258C>T	ExAC,gnomAD
FOXE1	O00358	p.Pro115Arg	rs758723116	missense variant	-	NC_000009.12:g.97854258C>G	ExAC,gnomAD
FOXE1	O00358	p.Arg116Ser	rs1285423385	missense variant	-	NC_000009.12:g.97854260C>A	gnomAD
FOXE1	O00358	p.Arg116Cys	COSM1464334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854260C>T	NCI-TCGA Cosmic
FOXE1	O00358	p.Glu117Lys	rs1227098969	missense variant	-	NC_000009.12:g.97854263G>A	gnomAD
FOXE1	O00358	p.Glu117Gln	COSM4830029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854263G>C	NCI-TCGA Cosmic
FOXE1	O00358	p.Glu117Lys	rs1227098969	missense variant	-	NC_000009.12:g.97854263G>A	NCI-TCGA Cosmic
FOXE1	O00358	p.Ala118Val	rs149751469	missense variant	-	NC_000009.12:g.97854267C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly119Cys	rs867894807	missense variant	-	NC_000009.12:g.97854269G>T	gnomAD
FOXE1	O00358	p.Gly119Ser	rs867894807	missense variant	-	NC_000009.12:g.97854269G>A	gnomAD
FOXE1	O00358	p.Gly119Ala	rs776090929	missense variant	-	NC_000009.12:g.97854270G>C	ExAC,gnomAD
FOXE1	O00358	p.Arg120His	rs747728255	missense variant	-	NC_000009.12:g.97854273G>A	ExAC,gnomAD
FOXE1	O00358	p.Pro121Gln	rs369225374	missense variant	-	NC_000009.12:g.97854276C>A	ESP,ExAC,gnomAD
FOXE1	O00358	p.Pro121Ser	rs769427010	missense variant	-	NC_000009.12:g.97854275C>T	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Pro121Arg	rs369225374	missense variant	-	NC_000009.12:g.97854276C>G	ESP,ExAC,gnomAD
FOXE1	O00358	p.Gly122Asp	COSM3902448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854279G>A	NCI-TCGA Cosmic
FOXE1	O00358	p.Lys123Glu	rs147419077	missense variant	-	NC_000009.12:g.97854281A>G	ESP
FOXE1	O00358	p.Gly124Arg	rs774035532	missense variant	-	NC_000009.12:g.97854284G>C	ExAC,gnomAD
FOXE1	O00358	p.Gly124Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97854284G>A	NCI-TCGA
FOXE1	O00358	p.Trp127Cys	rs1380786019	missense variant	-	NC_000009.12:g.97854295G>C	gnomAD
FOXE1	O00358	p.Ala128Thr	rs1421319199	missense variant	-	NC_000009.12:g.97854296G>A	TOPMed,gnomAD
FOXE1	O00358	p.Asp130Glu	rs753962245	missense variant	-	NC_000009.12:g.97854304C>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Asn132Asp	rs762041111	missense variant	-	NC_000009.12:g.97854308A>G	ExAC,gnomAD
FOXE1	O00358	p.Asn132Asp	rs762041111	missense variant	-	NC_000009.12:g.97854308A>G	UniProt,dbSNP
FOXE1	O00358	p.Asn132Asp	VAR_075979	missense variant	-	NC_000009.12:g.97854308A>G	UniProt
FOXE1	O00358	p.Asn132Lys	rs765412740	missense variant	-	NC_000009.12:g.97854310C>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala133Thr	COSM1103055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854311G>A	NCI-TCGA Cosmic
FOXE1	O00358	p.Glu134Lys	rs1249768990	missense variant	-	NC_000009.12:g.97854314G>A	TOPMed
FOXE1	O00358	p.Glu134Gly	rs1373629292	missense variant	-	NC_000009.12:g.97854315A>G	gnomAD
FOXE1	O00358	p.Asp135Asn	rs758572525	missense variant	-	NC_000009.12:g.97854317G>A	ExAC,gnomAD
FOXE1	O00358	p.Met136Val	rs780445787	missense variant	-	NC_000009.12:g.97854320A>G	ExAC,gnomAD
FOXE1	O00358	p.Phe137Ser	VAR_075980	Missense	-	-	UniProt
FOXE1	O00358	p.Glu138Lys	rs751912987	missense variant	-	NC_000009.12:g.97854326G>A	ExAC,gnomAD
FOXE1	O00358	p.Ser139Asn	rs961128078	missense variant	-	NC_000009.12:g.97854330G>A	TOPMed
FOXE1	O00358	p.Gly140Arg	rs1284307491	missense variant	-	NC_000009.12:g.97854332G>C	gnomAD
FOXE1	O00358	p.Ser141Arg	rs781710791	missense variant	-	NC_000009.12:g.97854337C>G	ExAC
FOXE1	O00358	p.Ser141Thr	rs560933505	missense variant	-	NC_000009.12:g.97854336G>C	1000Genomes,ExAC,gnomAD
FOXE1	O00358	p.Phe142Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97854340C>A	NCI-TCGA
FOXE1	O00358	p.Arg144His	rs199664273	missense variant	-	NC_000009.12:g.97854345G>A	ExAC,gnomAD
FOXE1	O00358	p.Arg144Pro	rs199664273	missense variant	-	NC_000009.12:g.97854345G>C	ExAC,gnomAD
FOXE1	O00358	p.Arg144Cys	COSM3902450	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854344C>T	NCI-TCGA Cosmic
FOXE1	O00358	p.Arg145His	rs543334166	missense variant	-	NC_000009.12:g.97854348G>A	1000Genomes,ExAC,gnomAD
FOXE1	O00358	p.Arg145Cys	rs777292713	missense variant	-	NC_000009.12:g.97854347C>T	ExAC,gnomAD
FOXE1	O00358	p.Arg145Cys	rs777292713	missense variant	-	NC_000009.12:g.97854347C>T	NCI-TCGA
FOXE1	O00358	p.Arg146His	rs1441439043	missense variant	-	NC_000009.12:g.97854351G>A	gnomAD
FOXE1	O00358	p.Arg146His	rs1441439043	missense variant	-	NC_000009.12:g.97854351G>A	NCI-TCGA Cosmic
FOXE1	O00358	p.Arg146Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97854350C>T	NCI-TCGA
FOXE1	O00358	p.Arg148Pro	rs1176602274	missense variant	-	NC_000009.12:g.97854357G>C	gnomAD
FOXE1	O00358	p.Arg151Leu	rs770535939	missense variant	-	NC_000009.12:g.97854366G>T	ExAC,gnomAD
FOXE1	O00358	p.Ser152Leu	rs1399563681	missense variant	-	NC_000009.12:g.97854369C>T	gnomAD
FOXE1	O00358	p.Ser152Leu	rs1399563681	missense variant	-	NC_000009.12:g.97854369C>T	NCI-TCGA
FOXE1	O00358	p.Leu154Arg	rs774164356	missense variant	-	NC_000009.12:g.97854375T>G	ExAC,gnomAD
FOXE1	O00358	p.Ser155Pro	rs1331415735	missense variant	-	NC_000009.12:g.97854377T>C	TOPMed,gnomAD
FOXE1	O00358	p.Thr156Ala	rs759314402	missense variant	-	NC_000009.12:g.97854380A>G	ExAC,gnomAD
FOXE1	O00358	p.Thr156Ala	rs759314402	missense variant	-	NC_000009.12:g.97854380A>G	NCI-TCGA
FOXE1	O00358	p.Tyr157Asn	rs1449646770	missense variant	-	NC_000009.12:g.97854383T>A	gnomAD
FOXE1	O00358	p.Tyr157Asp	rs1449646770	missense variant	-	NC_000009.12:g.97854383T>G	gnomAD
FOXE1	O00358	p.Pro158Thr	rs775509990	missense variant	-	NC_000009.12:g.97854386C>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala159Thr	rs765360231	missense variant	-	NC_000009.12:g.97854389G>A	ExAC,gnomAD
FOXE1	O00358	p.Ala159Val	rs750518691	missense variant	-	NC_000009.12:g.97854390C>T	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Tyr160Cys	rs763206627	missense variant	-	NC_000009.12:g.97854393A>G	ExAC,gnomAD
FOXE1	O00358	p.Met161Leu	rs1459086081	missense variant	-	NC_000009.12:g.97854395A>T	TOPMed,gnomAD
FOXE1	O00358	p.Met161Thr	rs751942900	missense variant	-	NC_000009.12:g.97854396T>C	ExAC,gnomAD
FOXE1	O00358	p.Met161Leu	rs1459086081	missense variant	-	NC_000009.12:g.97854395A>C	TOPMed,gnomAD
FOXE1	O00358	p.Met161Ile	rs755282859	missense variant	-	NC_000009.12:g.97854397G>C	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.His162Gln	rs532218005	missense variant	-	NC_000009.12:g.97854400C>G	1000Genomes,ExAC,gnomAD
FOXE1	O00358	p.His162Gln	rs532218005	missense variant	-	NC_000009.12:g.97854400C>A	1000Genomes,ExAC,gnomAD
FOXE1	O00358	p.Asp163Asn	rs753158939	missense variant	-	NC_000009.12:g.97854401G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Asp163Ala	rs1289624984	missense variant	-	NC_000009.12:g.97854402A>C	TOPMed
FOXE1	O00358	p.Asp163Tyr	rs753158939	missense variant	-	NC_000009.12:g.97854401G>T	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala164Val	COSM1207410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854405C>T	NCI-TCGA Cosmic
FOXE1	O00358	p.Ala165Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97854407G>C	NCI-TCGA
FOXE1	O00358	p.Ala166Ser	rs756633940	missense variant	-	NC_000009.12:g.97854410G>T	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala166Thr	rs756633940	missense variant	-	NC_000009.12:g.97854410G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala167Val	rs1401851392	missense variant	-	NC_000009.12:g.97854414C>T	gnomAD
FOXE1	O00358	p.Ala167Ser	rs748786457	missense variant	-	NC_000009.12:g.97854413G>T	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala167Thr	rs748786457	missense variant	-	NC_000009.12:g.97854413G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala170Thr	rs778487508	missense variant	-	NC_000009.12:g.97854422G>A	ExAC,gnomAD
FOXE1	O00358	p.Ala170Asp	rs1296980294	missense variant	-	NC_000009.12:g.97854423C>A	gnomAD
FOXE1	O00358	p.Ala171Thr	rs1412675005	missense variant	-	NC_000009.12:g.97854425G>A	TOPMed
FOXE1	O00358	p.Ala171Val	rs1396354198	missense variant	-	NC_000009.12:g.97854426C>T	gnomAD
FOXE1	O00358	p.Ala172Thr	rs1303832098	missense variant	-	NC_000009.12:g.97854428G>A	gnomAD
FOXE1	O00358	p.Ala173Thr	rs1223127008	missense variant	-	NC_000009.12:g.97854431G>A	TOPMed,gnomAD
FOXE1	O00358	p.Ala175Thr	rs768756124	missense variant	-	NC_000009.12:g.97854437G>A	ExAC
FOXE1	O00358	p.Ala179Pro	rs1440059398	missense variant	-	NC_000009.12:g.97854449G>C	TOPMed
FOXE1	O00358	p.Ala179insAlaAlaAla	VAR_037643	repeated_sequence	-	-	UniProt
FOXE1	O00358	p.Phe181Leu	rs1467988158	missense variant	-	NC_000009.12:g.97854457C>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly183Ser	rs988624138	missense variant	-	NC_000009.12:g.97854461G>A	TOPMed
FOXE1	O00358	p.Ala187Val	rs1275323420	missense variant	-	NC_000009.12:g.97854474C>T	TOPMed
FOXE1	O00358	p.Arg189Gly	rs1234108836	missense variant	-	NC_000009.12:g.97854479C>G	TOPMed
FOXE1	O00358	p.Pro190Arg	rs182535331	missense variant	-	NC_000009.12:g.97854483C>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Pro190Ala	rs1043573644	missense variant	-	NC_000009.12:g.97854482C>G	TOPMed,gnomAD
FOXE1	O00358	p.Pro190Leu	rs182535331	missense variant	-	NC_000009.12:g.97854483C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Pro190Ser	rs1043573644	missense variant	-	NC_000009.12:g.97854482C>T	TOPMed,gnomAD
FOXE1	O00358	p.Pro191His	rs1057363769	missense variant	-	NC_000009.12:g.97854486C>A	TOPMed,gnomAD
FOXE1	O00358	p.Pro191Leu	rs1057363769	missense variant	-	NC_000009.12:g.97854486C>T	TOPMed,gnomAD
FOXE1	O00358	p.Pro191Arg	rs1057363769	missense variant	-	NC_000009.12:g.97854486C>G	TOPMed,gnomAD
FOXE1	O00358	p.Tyr192His	rs1284413698	missense variant	-	NC_000009.12:g.97854488T>C	TOPMed,gnomAD
FOXE1	O00358	p.Pro193Leu	rs896086448	missense variant	-	NC_000009.12:g.97854492C>T	TOPMed
FOXE1	O00358	p.Gly194Asp	rs1178531031	missense variant	-	NC_000009.12:g.97854495G>A	TOPMed
FOXE1	O00358	p.Ala198Gly	rs1222011725	missense variant	-	NC_000009.12:g.97854507C>G	TOPMed,gnomAD
FOXE1	O00358	p.Ala201Thr	rs1226424447	missense variant	-	NC_000009.12:g.97854515G>A	TOPMed
FOXE1	O00358	p.Ala201Val	rs1015105511	missense variant	-	NC_000009.12:g.97854516C>T	TOPMed,gnomAD
FOXE1	O00358	p.Pro202Thr	rs1308483515	missense variant	-	NC_000009.12:g.97854518C>A	gnomAD
FOXE1	O00358	p.Pro203Arg	rs766497891	missense variant	-	NC_000009.12:g.97854522C>G	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Leu205Val	rs1425267741	missense variant	-	NC_000009.12:g.97854527C>G	TOPMed,gnomAD
FOXE1	O00358	p.Ala206Thr	rs774373703	missense variant	-	NC_000009.12:g.97854530G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Pro208Arg	rs1027187148	missense variant	-	NC_000009.12:g.97854537C>G	TOPMed
FOXE1	O00358	p.Pro210Ala	rs1327333325	missense variant	-	NC_000009.12:g.97854542C>G	TOPMed
FOXE1	O00358	p.Val211Phe	rs1169095282	missense variant	-	NC_000009.12:g.97854545G>T	TOPMed,gnomAD
FOXE1	O00358	p.Val211Ile	rs1169095282	missense variant	-	NC_000009.12:g.97854545G>A	TOPMed,gnomAD
FOXE1	O00358	p.Val211Asp	rs1348964799	missense variant	-	NC_000009.12:g.97854546T>A	TOPMed
FOXE1	O00358	p.Tyr212Ser	rs1321129320	missense variant	-	NC_000009.12:g.97854549A>C	TOPMed
FOXE1	O00358	p.Pro214Ala	rs953725958	missense variant	-	NC_000009.12:g.97854554C>G	TOPMed,gnomAD
FOXE1	O00358	p.Ala215Val	rs1158636786	missense variant	-	NC_000009.12:g.97854558C>T	TOPMed
FOXE1	O00358	p.Pro218His	rs1482765785	missense variant	-	NC_000009.12:g.97854567C>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly219Arg	rs1458855076	missense variant	-	NC_000009.12:g.97854569G>C	TOPMed,gnomAD
FOXE1	O00358	p.Pro220Leu	rs866903665	missense variant	-	NC_000009.12:g.97854573C>T	TOPMed
FOXE1	O00358	p.Pro220Ser	rs1295719700	missense variant	-	NC_000009.12:g.97854572C>T	gnomAD
FOXE1	O00358	p.Pro220Arg	rs866903665	missense variant	-	NC_000009.12:g.97854573C>G	TOPMed
FOXE1	O00358	p.Arg222Pro	rs985554868	missense variant	-	NC_000009.12:g.97854579G>C	TOPMed,gnomAD
FOXE1	O00358	p.Val223Ile	rs1299052647	missense variant	-	NC_000009.12:g.97854581G>A	gnomAD
FOXE1	O00358	p.Gly225Ser	rs759780973	missense variant	-	NC_000009.12:g.97854587G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Leu226Pro	rs965279677	missense variant	-	NC_000009.12:g.97854591T>C	TOPMed
FOXE1	O00358	p.Val227Phe	rs1215534945	missense variant	-	NC_000009.12:g.97854593G>T	TOPMed
FOXE1	O00358	p.Pro228Ala	rs556903865	missense variant	-	NC_000009.12:g.97854596C>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Pro228Ser	rs556903865	missense variant	-	NC_000009.12:g.97854596C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Pro228Thr	rs556903865	missense variant	-	NC_000009.12:g.97854596C>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Glu229Gly	rs1322325621	missense variant	-	NC_000009.12:g.97854600A>G	gnomAD
FOXE1	O00358	p.Arg230Pro	rs1289438181	missense variant	-	NC_000009.12:g.97854603G>C	TOPMed,gnomAD
FOXE1	O00358	p.Arg230Leu	rs1289438181	missense variant	-	NC_000009.12:g.97854603G>T	TOPMed,gnomAD
FOXE1	O00358	p.Arg230Trp	rs1246910907	missense variant	-	NC_000009.12:g.97854602C>T	gnomAD
FOXE1	O00358	p.Pro231Thr	rs1217015768	missense variant	-	NC_000009.12:g.97854605C>A	gnomAD
FOXE1	O00358	p.Leu232Phe	rs1487089314	missense variant	-	NC_000009.12:g.97854608C>T	gnomAD
FOXE1	O00358	p.Ser233Ile	rs1256236600	missense variant	-	NC_000009.12:g.97854612G>T	gnomAD
FOXE1	O00358	p.Ser233Gly	rs913070188	missense variant	-	NC_000009.12:g.97854611A>G	TOPMed
FOXE1	O00358	p.Ser233Arg	rs1424973397	missense variant	-	NC_000009.12:g.97854613C>G	TOPMed,gnomAD
FOXE1	O00358	p.Ser233Arg	rs1424973397	missense variant	-	NC_000009.12:g.97854613C>A	TOPMed,gnomAD
FOXE1	O00358	p.Leu236Val	rs1167541936	missense variant	-	NC_000009.12:g.97854620C>G	gnomAD
FOXE1	O00358	p.Leu236Met	rs1167541936	missense variant	-	NC_000009.12:g.97854620C>A	gnomAD
FOXE1	O00358	p.Gly237Arg	rs1424474762	missense variant	-	NC_000009.12:g.97854623G>A	gnomAD
FOXE1	O00358	p.Pro238Ala	rs947241980	missense variant	-	NC_000009.12:g.97854626C>G	TOPMed
FOXE1	O00358	p.Ala239Ser	rs756579198	missense variant	-	NC_000009.12:g.97854629G>T	ExAC,gnomAD
FOXE1	O00358	p.Ala239Val	rs1432718937	missense variant	-	NC_000009.12:g.97854630C>T	TOPMed
FOXE1	O00358	p.Ala239Thr	rs756579198	missense variant	-	NC_000009.12:g.97854629G>A	ExAC,gnomAD
FOXE1	O00358	p.Pro240Thr	rs1419938764	missense variant	-	NC_000009.12:g.97854632C>A	gnomAD
FOXE1	O00358	p.Gly244Ser	rs1167876774	missense variant	-	NC_000009.12:g.97854644G>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly245Asp	rs1192690273	missense variant	-	NC_000009.12:g.97854648G>A	TOPMed
FOXE1	O00358	p.Ser246Phe	rs1282437190	missense variant	-	NC_000009.12:g.97854651C>T	TOPMed
FOXE1	O00358	p.Cys247Ser	rs1358602866	missense variant	-	NC_000009.12:g.97854654G>C	TOPMed,gnomAD
FOXE1	O00358	p.Cys247Tyr	rs1358602866	missense variant	-	NC_000009.12:g.97854654G>A	TOPMed,gnomAD
FOXE1	O00358	p.Ala248Val	rs538912281	missense variant	-	NC_000009.12:g.97854657C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala248Gly	RCV000190467	missense variant	Thyroid cancer, nonmedullary, 4 (NMTC4)	NC_000009.12:g.97854657C>G	ClinVar
FOXE1	O00358	p.Ala248Asp	rs538912281	missense variant	-	NC_000009.12:g.97854657C>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala248Gly	rs538912281	missense variant	Thyroid cancer, non-medullary, 4 (NMTC4)	NC_000009.12:g.97854657C>G	UniProt,dbSNP
FOXE1	O00358	p.Ala248Gly	VAR_075981	missense variant	Thyroid cancer, non-medullary, 4 (NMTC4)	NC_000009.12:g.97854657C>G	UniProt
FOXE1	O00358	p.Ala248Gly	rs538912281	missense variant	-	NC_000009.12:g.97854657C>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ser251Thr	rs937334255	missense variant	-	NC_000009.12:g.97854665T>A	TOPMed
FOXE1	O00358	p.Ser251Tyr	rs1314827797	missense variant	-	NC_000009.12:g.97854666C>A	gnomAD
FOXE1	O00358	p.Ala252Ser	rs756663689	missense variant	-	NC_000009.12:g.97854668G>T	ExAC,gnomAD
FOXE1	O00358	p.Gly253Ser	rs778490079	missense variant	-	NC_000009.12:g.97854671G>A	ExAC
FOXE1	O00358	p.Ala256Ser	rs1179728924	missense variant	-	NC_000009.12:g.97854680G>T	gnomAD
FOXE1	O00358	p.Thr258Ile	rs1382559658	missense variant	-	NC_000009.12:g.97854687C>T	TOPMed,gnomAD
FOXE1	O00358	p.Thr258Asn	rs1382559658	missense variant	-	NC_000009.12:g.97854687C>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly260Cys	rs1158688131	missense variant	-	NC_000009.12:g.97854692G>T	TOPMed,gnomAD
FOXE1	O00358	p.Gly260Ser	rs1158688131	missense variant	-	NC_000009.12:g.97854692G>A	TOPMed,gnomAD
FOXE1	O00358	p.Tyr261Cys	rs1410552846	missense variant	-	NC_000009.12:g.97854696A>G	TOPMed
FOXE1	O00358	p.Gln262Lys	rs1274823468	missense variant	-	NC_000009.12:g.97854698C>A	TOPMed,gnomAD
FOXE1	O00358	p.Pro263Ala	rs1191740636	missense variant	-	NC_000009.12:g.97854701C>G	TOPMed
FOXE1	O00358	p.Ala264Ser	rs1359925233	missense variant	-	NC_000009.12:g.97854704G>T	TOPMed,gnomAD
FOXE1	O00358	p.Ala264Thr	rs1359925233	missense variant	-	NC_000009.12:g.97854704G>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly265Asp	rs1182443612	missense variant	-	NC_000009.12:g.97854708G>A	TOPMed
FOXE1	O00358	p.Thr267Ile	rs745468926	missense variant	-	NC_000009.12:g.97854714C>T	ExAC,gnomAD
FOXE1	O00358	p.Gly268Trp	rs1334758145	missense variant	-	NC_000009.12:g.97854716G>T	gnomAD
FOXE1	O00358	p.Gly268Val	rs1382014380	missense variant	-	NC_000009.12:g.97854717G>T	gnomAD
FOXE1	O00358	p.Gly268Arg	rs1334758145	missense variant	-	NC_000009.12:g.97854716G>A	gnomAD
FOXE1	O00358	p.Ala269Asp	rs1370924965	missense variant	-	NC_000009.12:g.97854720C>A	gnomAD
FOXE1	O00358	p.Ala269Ser	rs1311284366	missense variant	-	NC_000009.12:g.97854719G>T	gnomAD
FOXE1	O00358	p.Arg270Leu	rs1313569528	missense variant	-	NC_000009.12:g.97854723G>T	gnomAD
FOXE1	O00358	p.Arg270Pro	rs1313569528	missense variant	-	NC_000009.12:g.97854723G>C	gnomAD
FOXE1	O00358	p.Arg270Trp	rs1301578947	missense variant	-	NC_000009.12:g.97854722C>T	TOPMed,gnomAD
FOXE1	O00358	p.Pro271Thr	rs1261963885	missense variant	-	NC_000009.12:g.97854725C>A	gnomAD
FOXE1	O00358	p.Pro271Leu	rs1457769253	missense variant	-	NC_000009.12:g.97854726C>T	gnomAD
FOXE1	O00358	p.Pro271Gln	rs1457769253	missense variant	-	NC_000009.12:g.97854726C>A	gnomAD
FOXE1	O00358	p.Pro271Ser	rs1261963885	missense variant	-	NC_000009.12:g.97854725C>T	gnomAD
FOXE1	O00358	p.Ala272Asp	rs758175291	missense variant	-	NC_000009.12:g.97854729C>A	ExAC,gnomAD
FOXE1	O00358	p.Ala272Thr	rs1235058535	missense variant	-	NC_000009.12:g.97854728G>A	TOPMed,gnomAD
FOXE1	O00358	p.Asn273Lys	rs779966006	missense variant	-	NC_000009.12:g.97854733C>G	ExAC,gnomAD
FOXE1	O00358	p.Asn273Lys	rs779966006	missense variant	-	NC_000009.12:g.97854733C>A	ExAC,gnomAD
FOXE1	O00358	p.Pro274Ser	rs1426197306	missense variant	-	NC_000009.12:g.97854734C>T	gnomAD
FOXE1	O00358	p.Ser275ProPheSerTerUnkUnk	rs751660227	frameshift	-	NC_000009.12:g.97854733C>-	NCI-TCGA
FOXE1	O00358	p.Ser275Tyr	rs1174448034	missense variant	-	NC_000009.12:g.97854738C>A	gnomAD
FOXE1	O00358	p.Ala276Asp	rs1333307649	missense variant	-	NC_000009.12:g.97854741C>A	gnomAD
FOXE1	O00358	p.Ala276Thr	rs1036653031	missense variant	-	NC_000009.12:g.97854740G>A	TOPMed,gnomAD
FOXE1	O00358	p.Tyr277His	rs1337483112	missense variant	-	NC_000009.12:g.97854743T>C	TOPMed
FOXE1	O00358	p.Tyr277Cys	rs1441256587	missense variant	-	NC_000009.12:g.97854744A>G	gnomAD
FOXE1	O00358	p.Ala278Val	rs1369368312	missense variant	-	NC_000009.12:g.97854747C>T	TOPMed,gnomAD
FOXE1	O00358	p.Ala279Thr	rs768628336	missense variant	-	NC_000009.12:g.97854749G>A	ExAC,gnomAD
FOXE1	O00358	p.Ala279Val	rs1318033693	missense variant	-	NC_000009.12:g.97854750C>T	gnomAD
FOXE1	O00358	p.Ala280Ser	rs1219896170	missense variant	-	NC_000009.12:g.97854752G>T	gnomAD
FOXE1	O00358	p.Ala280Thr	rs1219896170	missense variant	-	NC_000009.12:g.97854752G>A	gnomAD
FOXE1	O00358	p.Ala282Ser	rs776377853	missense variant	-	NC_000009.12:g.97854758G>T	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala282Val	rs1204332753	missense variant	-	NC_000009.12:g.97854759C>T	gnomAD
FOXE1	O00358	p.Ala282Thr	rs776377853	missense variant	-	NC_000009.12:g.97854758G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly283Val	rs1490922625	missense variant	-	NC_000009.12:g.97854762G>T	gnomAD
FOXE1	O00358	p.Pro284Arg	rs1300371630	missense variant	-	NC_000009.12:g.97854765C>G	TOPMed
FOXE1	O00358	p.Asp285Val	rs1447662669	missense variant	-	NC_000009.12:g.97854768A>T	TOPMed
FOXE1	O00358	p.Asp285Glu	rs1478206560	missense variant	-	NC_000009.12:g.97854769C>A	TOPMed,gnomAD
FOXE1	O00358	p.Asp285Asn	rs1428797247	missense variant	-	NC_000009.12:g.97854767G>A	gnomAD
FOXE1	O00358	p.Asp285Glu	rs1478206560	missense variant	-	NC_000009.12:g.97854769C>G	TOPMed,gnomAD
FOXE1	O00358	p.Gly286Asp	rs1168870812	missense variant	-	NC_000009.12:g.97854771G>A	TOPMed
FOXE1	O00358	p.Ala287Pro	rs1417367716	missense variant	-	NC_000009.12:g.97854773G>C	gnomAD
FOXE1	O00358	p.Pro289Ser	rs1409298804	missense variant	-	NC_000009.12:g.97854779C>T	TOPMed,gnomAD
FOXE1	O00358	p.Pro289Thr	rs1409298804	missense variant	-	NC_000009.12:g.97854779C>A	TOPMed,gnomAD
FOXE1	O00358	p.Pro289Arg	rs1324051960	missense variant	-	NC_000009.12:g.97854780C>G	gnomAD
FOXE1	O00358	p.Gly291Val	rs1045902549	missense variant	-	NC_000009.12:g.97854786G>T	gnomAD
FOXE1	O00358	p.Ala292Pro	rs1340715840	missense variant	-	NC_000009.12:g.97854788G>C	gnomAD
FOXE1	O00358	p.Ala292Thr	rs1340715840	missense variant	-	NC_000009.12:g.97854788G>A	gnomAD
FOXE1	O00358	p.Ala292Gly	rs1242700002	missense variant	-	NC_000009.12:g.97854789C>G	gnomAD
FOXE1	O00358	p.Gly293Cys	rs542731474	missense variant	-	NC_000009.12:g.97854791G>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly293Ser	rs542731474	missense variant	-	NC_000009.12:g.97854791G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly293Arg	rs542731474	missense variant	-	NC_000009.12:g.97854791G>C	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ser294Arg	rs1267881083	missense variant	-	NC_000009.12:g.97854794A>C	gnomAD
FOXE1	O00358	p.Ser294Asn	rs377692338	missense variant	-	NC_000009.12:g.97854795G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala295Thr	rs1214499167	missense variant	-	NC_000009.12:g.97854797G>A	TOPMed,gnomAD
FOXE1	O00358	p.Ala295Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97854798C>T	NCI-TCGA
FOXE1	O00358	p.Ala298Pro	rs187232918	missense variant	-	NC_000009.12:g.97854806G>C	1000Genomes,gnomAD
FOXE1	O00358	p.Ala298Thr	rs187232918	missense variant	-	NC_000009.12:g.97854806G>A	1000Genomes,gnomAD
FOXE1	O00358	p.Ala299Thr	rs1220668801	missense variant	-	NC_000009.12:g.97854809G>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly301Ser	rs1268494910	missense variant	-	NC_000009.12:g.97854815G>A	gnomAD
FOXE1	O00358	p.Arg302Cys	rs1488726187	missense variant	-	NC_000009.12:g.97854818C>T	gnomAD
FOXE1	O00358	p.Ala304Val	rs775827100	missense variant	-	NC_000009.12:g.97854825C>T	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala307Ser	rs1475092224	missense variant	-	NC_000009.12:g.97854833G>T	gnomAD
FOXE1	O00358	p.Ser308Leu	rs1386974111	missense variant	-	NC_000009.12:g.97854837C>T	gnomAD
FOXE1	O00358	p.Pro309Ser	rs1162674885	missense variant	-	NC_000009.12:g.97854839C>T	gnomAD
FOXE1	O00358	p.Pro309Arg	rs1165128319	missense variant	-	NC_000009.12:g.97854840C>G	gnomAD
FOXE1	O00358	p.Pro310Leu	rs1360838180	missense variant	-	NC_000009.12:g.97854843C>T	gnomAD
FOXE1	O00358	p.Ala311Val	rs1383553606	missense variant	-	NC_000009.12:g.97854846C>T	gnomAD
FOXE1	O00358	p.Gly312Ser	rs1325358289	missense variant	-	NC_000009.12:g.97854848G>A	gnomAD
FOXE1	O00358	p.Gly313Cys	rs867468354	missense variant	-	NC_000009.12:g.97854851G>T	TOPMed,gnomAD
FOXE1	O00358	p.Gly313Ser	rs867468354	missense variant	-	NC_000009.12:g.97854851G>A	TOPMed,gnomAD
FOXE1	O00358	p.Ser314Thr	rs1244297944	missense variant	-	NC_000009.12:g.97854855G>C	gnomAD
FOXE1	O00358	p.Ser315Asn	rs1323468644	missense variant	-	NC_000009.12:g.97854858G>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly316Asp	rs754231919	missense variant	-	NC_000009.12:g.97854861G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly317Ser	rs1354786120	missense variant	-	NC_000009.12:g.97854863G>A	gnomAD
FOXE1	O00358	p.Glu319Lys	rs764631482	missense variant	-	NC_000009.12:g.97854869G>A	ExAC,gnomAD
FOXE1	O00358	p.Thr320Ala	rs1446536306	missense variant	-	NC_000009.12:g.97854872A>G	gnomAD
FOXE1	O00358	p.Thr321Lys	rs1379545688	missense variant	-	NC_000009.12:g.97854876C>A	TOPMed
FOXE1	O00358	p.Phe324Leu	rs758120385	missense variant	-	NC_000009.12:g.97854886C>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Phe324Leu	rs867090007	missense variant	-	NC_000009.12:g.97854884T>C	gnomAD
FOXE1	O00358	p.Tyr325Ser	rs779912895	missense variant	-	NC_000009.12:g.97854888A>C	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly326Arg	rs746677097	missense variant	-	NC_000009.12:g.97854890G>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly326Ala	rs754667136	missense variant	-	NC_000009.12:g.97854891G>C	ExAC,gnomAD
FOXE1	O00358	p.Gly326Arg	rs746677097	missense variant	-	NC_000009.12:g.97854890G>C	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Arg327His	rs781077121	missense variant	-	NC_000009.12:g.97854894G>A	ExAC,gnomAD
FOXE1	O00358	p.Thr328Met	rs769816707	missense variant	-	NC_000009.12:g.97854897C>T	ExAC,gnomAD
FOXE1	O00358	p.Thr328Arg	rs769816707	missense variant	-	NC_000009.12:g.97854897C>G	ExAC,gnomAD
FOXE1	O00358	p.Thr328Ser	rs747982915	missense variant	-	NC_000009.12:g.97854896A>T	ExAC,gnomAD
FOXE1	O00358	p.Pro330His	rs1451103731	missense variant	-	NC_000009.12:g.97854903C>A	TOPMed,gnomAD
FOXE1	O00358	p.Pro330Leu	rs1451103731	missense variant	-	NC_000009.12:g.97854903C>T	TOPMed,gnomAD
FOXE1	O00358	p.Gly331Asp	rs1378140392	missense variant	-	NC_000009.12:g.97854906G>A	gnomAD
FOXE1	O00358	p.Gly331Ser	COSM3902452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97854905G>A	NCI-TCGA Cosmic
FOXE1	O00358	p.Gln332Arg	rs1353640909	missense variant	-	NC_000009.12:g.97854909A>G	TOPMed
FOXE1	O00358	p.Gly334Arg	rs376303736	missense variant	-	NC_000009.12:g.97854914G>C	ESP,ExAC,gnomAD
FOXE1	O00358	p.Ala335Gly	rs543372757	missense variant	-	NC_000009.12:g.97854918C>G	1000Genomes,TOPMed,gnomAD
FOXE1	O00358	p.Ala335Val	rs543372757	missense variant	-	NC_000009.12:g.97854918C>T	1000Genomes,TOPMed,gnomAD
FOXE1	O00358	p.Ala338Pro	rs1350206876	missense variant	-	NC_000009.12:g.97854926G>C	gnomAD
FOXE1	O00358	p.Ala338Val	rs1209325248	missense variant	-	NC_000009.12:g.97854927C>T	gnomAD
FOXE1	O00358	p.Tyr340Cys	rs965908826	missense variant	-	NC_000009.12:g.97854933A>G	TOPMed,gnomAD
FOXE1	O00358	p.Asn341Lys	rs775631008	missense variant	-	NC_000009.12:g.97854937C>G	ExAC,gnomAD
FOXE1	O00358	p.Gly344Glu	rs1202969544	missense variant	-	NC_000009.12:g.97854945G>A	gnomAD
FOXE1	O00358	p.Gln345Arg	rs1238658162	missense variant	-	NC_000009.12:g.97854948A>G	gnomAD
FOXE1	O00358	p.Leu346Arg	rs768862014	missense variant	-	NC_000009.12:g.97854951T>G	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly347Arg	rs1362909408	missense variant	-	NC_000009.12:g.97854953G>A	TOPMed,gnomAD
FOXE1	O00358	p.Gly347Ala	rs1388395942	missense variant	-	NC_000009.12:g.97854954G>C	TOPMed
FOXE1	O00358	p.Gly347Ter	rs1362909408	stop gained	-	NC_000009.12:g.97854953G>T	TOPMed,gnomAD
FOXE1	O00358	p.Gly347Arg	rs1362909408	missense variant	-	NC_000009.12:g.97854953G>A	NCI-TCGA Cosmic
FOXE1	O00358	p.Gly348Glu	rs1178062696	missense variant	-	NC_000009.12:g.97854957G>A	gnomAD
FOXE1	O00358	p.Gly348Arg	rs1478143400	missense variant	-	NC_000009.12:g.97854956G>A	TOPMed,gnomAD
FOXE1	O00358	p.Ala349Thr	rs370614741	missense variant	-	NC_000009.12:g.97854959G>A	ESP,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala349Pro	rs370614741	missense variant	-	NC_000009.12:g.97854959G>C	ESP,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala353Thr	rs749941792	missense variant	-	NC_000009.12:g.97854971G>A	ExAC,gnomAD
FOXE1	O00358	p.Tyr354His	rs1197806182	missense variant	-	NC_000009.12:g.97854974T>C	TOPMed
FOXE1	O00358	p.His355Arg	rs762497081	missense variant	-	NC_000009.12:g.97854978A>G	ExAC,gnomAD
FOXE1	O00358	p.Arg357Gly	rs765994883	missense variant	-	NC_000009.12:g.97854983C>G	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Arg357Leu	rs751221581	missense variant	-	NC_000009.12:g.97854984G>T	ExAC,gnomAD
FOXE1	O00358	p.Arg357Ser	rs765994883	missense variant	-	NC_000009.12:g.97854983C>A	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala360Val	rs1194877623	missense variant	-	NC_000009.12:g.97854993C>T	TOPMed
FOXE1	O00358	p.Ala360Val	rs1194877623	missense variant	-	NC_000009.12:g.97854993C>T	NCI-TCGA
FOXE1	O00358	p.Ala361Thr	rs1321530779	missense variant	-	NC_000009.12:g.97854995G>A	gnomAD
FOXE1	O00358	p.Ala361Thr	rs1321530779	missense variant	-	NC_000009.12:g.97854995G>A	NCI-TCGA Cosmic
FOXE1	O00358	p.Pro363Ala	rs200556187	missense variant	-	NC_000009.12:g.97855001C>G	ESP,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly364Ser	rs565079882	missense variant	-	NC_000009.12:g.97855004G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Gly365Arg	rs752573832	missense variant	-	NC_000009.12:g.97855007G>A	ExAC,gnomAD
FOXE1	O00358	p.Asp367Asn	rs755997712	missense variant	-	NC_000009.12:g.97855013G>A	ExAC,gnomAD
FOXE1	O00358	p.Arg368Leu	rs777743946	missense variant	-	NC_000009.12:g.97855017G>T	ExAC,gnomAD
FOXE1	O00358	p.Phe369Ser	rs1451910373	missense variant	-	NC_000009.12:g.97855020T>C	gnomAD
FOXE1	O00358	p.Val370Ala	rs749236263	missense variant	-	NC_000009.12:g.97855023T>C	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Val370Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97855022G>A	NCI-TCGA
FOXE1	O00358	p.Ser371Pro	rs772072435	missense variant	-	NC_000009.12:g.97855025T>C	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala372Pro	rs747177483	missense variant	-	NC_000009.12:g.97855028G>C	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Ala372Ser	rs747177483	missense variant	-	NC_000009.12:g.97855028G>T	ExAC,TOPMed,gnomAD
FOXE1	O00358	p.Met373Thr	rs1463977882	missense variant	-	NC_000009.12:g.97855032T>C	TOPMed,gnomAD
QSOX1	O00391	p.Arg2Lys	rs1227571483	missense variant	-	NC_000001.11:g.180154912G>A	TOPMed,gnomAD
QSOX1	O00391	p.Arg2Trp	rs1373773729	missense variant	-	NC_000001.11:g.180154911A>T	TOPMed,gnomAD
QSOX1	O00391	p.Arg3Lys	rs1272286332	missense variant	-	NC_000001.11:g.180154915G>A	TOPMed,gnomAD
QSOX1	O00391	p.Arg3Gly	rs1159636176	missense variant	-	NC_000001.11:g.180154914A>G	TOPMed
QSOX1	O00391	p.Asn5Lys	rs1051847014	missense variant	-	NC_000001.11:g.180154922C>A	TOPMed,gnomAD
QSOX1	O00391	p.Ser6Ile	rs745612653	missense variant	-	NC_000001.11:g.180154924G>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly7Ser	rs10913933	missense variant	-	NC_000001.11:g.180154926G>A	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly7Arg	rs10913933	missense variant	-	NC_000001.11:g.180154926G>C	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly9Arg	rs1385964622	missense variant	-	NC_000001.11:g.180154932G>A	TOPMed,gnomAD
QSOX1	O00391	p.Gly9Glu	rs1248638806	missense variant	-	NC_000001.11:g.180154933G>A	TOPMed
QSOX1	O00391	p.Gly9Trp	rs1385964622	missense variant	-	NC_000001.11:g.180154932G>T	TOPMed,gnomAD
QSOX1	O00391	p.Pro10Arg	rs980913670	missense variant	-	NC_000001.11:g.180154936C>G	TOPMed,gnomAD
QSOX1	O00391	p.Pro11Ser	rs1230185669	missense variant	-	NC_000001.11:g.180154938C>T	gnomAD
QSOX1	O00391	p.Pro12Leu	rs763224419	missense variant	-	NC_000001.11:g.180154942C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ser13Leu	rs1319604898	missense variant	-	NC_000001.11:g.180154945C>T	TOPMed
QSOX1	O00391	p.Leu14Pro	rs1275491308	missense variant	-	NC_000001.11:g.180154948T>C	gnomAD
QSOX1	O00391	p.Leu14Val	rs768705604	missense variant	-	NC_000001.11:g.180154947C>G	ExAC,gnomAD
QSOX1	O00391	p.Leu15Met	rs1400547705	missense variant	-	NC_000001.11:g.180154950C>A	TOPMed
QSOX1	O00391	p.Leu17Val	rs561867513	missense variant	-	NC_000001.11:g.180154956C>G	1000Genomes,TOPMed
QSOX1	O00391	p.Leu18Arg	rs774355860	missense variant	-	NC_000001.11:g.180154960T>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu19Val	rs1430407366	missense variant	-	NC_000001.11:g.180154962C>G	TOPMed,gnomAD
QSOX1	O00391	p.Trp20Arg	rs1003043623	missense variant	-	NC_000001.11:g.180154965T>C	TOPMed
QSOX1	O00391	p.Ala23Pro	rs1035407004	missense variant	-	NC_000001.11:g.180154974G>C	TOPMed,gnomAD
QSOX1	O00391	p.Ala23Thr	rs1035407004	missense variant	-	NC_000001.11:g.180154974G>A	TOPMed,gnomAD
QSOX1	O00391	p.Ala23Val	rs767868738	missense variant	-	NC_000001.11:g.180154975C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val24Ile	rs1386272100	missense variant	-	NC_000001.11:g.180154977G>A	gnomAD
QSOX1	O00391	p.Gly26Val	rs1386427364	missense variant	-	NC_000001.11:g.180154984G>T	TOPMed,gnomAD
QSOX1	O00391	p.Gly26Ser	rs1289097660	missense variant	-	NC_000001.11:g.180154983G>A	gnomAD
QSOX1	O00391	p.Ala27Gly	rs1311788074	missense variant	-	NC_000001.11:g.180154987C>G	gnomAD
QSOX1	O00391	p.Ala29Val	rs80203913	missense variant	-	NC_000001.11:g.180154993C>T	NCI-TCGA
QSOX1	O00391	p.Ala29Val	rs80203913	missense variant	-	NC_000001.11:g.180154993C>T	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala30Gly	rs1234497818	missense variant	-	NC_000001.11:g.180154996C>G	gnomAD
QSOX1	O00391	p.Ala30Val	rs1234497818	missense variant	-	NC_000001.11:g.180154996C>T	gnomAD
QSOX1	O00391	p.Pro31Ser	rs1270799822	missense variant	-	NC_000001.11:g.180154998C>T	TOPMed
QSOX1	O00391	p.Arg32Trp	rs550709452	missense variant	-	NC_000001.11:g.180155001C>T	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg32Gln	rs1315508178	missense variant	-	NC_000001.11:g.180155002G>A	TOPMed,gnomAD
QSOX1	O00391	p.Arg32Leu	rs1315508178	missense variant	-	NC_000001.11:g.180155002G>T	TOPMed,gnomAD
QSOX1	O00391	p.Arg32Pro	rs1315508178	missense variant	-	NC_000001.11:g.180155002G>C	TOPMed,gnomAD
QSOX1	O00391	p.Tyr36Cys	rs1208790761	missense variant	-	NC_000001.11:g.180155014A>G	TOPMed,gnomAD
QSOX1	O00391	p.Tyr36Phe	rs1208790761	missense variant	-	NC_000001.11:g.180155014A>T	TOPMed,gnomAD
QSOX1	O00391	p.Asp40Tyr	rs1256975151	missense variant	-	NC_000001.11:g.180155025G>T	gnomAD
QSOX1	O00391	p.Pro41Thr	rs1028409575	missense variant	-	NC_000001.11:g.180155028C>A	TOPMed,gnomAD
QSOX1	O00391	p.Pro41Gln	rs766892057	missense variant	-	NC_000001.11:g.180155029C>A	ExAC,gnomAD
QSOX1	O00391	p.Thr43Met	rs1409413780	missense variant	-	NC_000001.11:g.180155035C>T	gnomAD
QSOX1	O00391	p.Ala47Val	rs1428651705	missense variant	-	NC_000001.11:g.180155047C>T	TOPMed
QSOX1	O00391	p.Thr49Ala	rs974988938	missense variant	-	NC_000001.11:g.180155052A>G	TOPMed
QSOX1	O00391	p.Thr49Lys	rs1159327330	missense variant	-	NC_000001.11:g.180155053C>A	TOPMed,gnomAD
QSOX1	O00391	p.Gly52Asp	rs1172457236	missense variant	-	NC_000001.11:g.180155062G>A	gnomAD
QSOX1	O00391	p.Ala53Gly	rs1188560314	missense variant	-	NC_000001.11:g.180155065C>G	TOPMed
QSOX1	O00391	p.Leu55Pro	rs1476090327	missense variant	-	NC_000001.11:g.180155071T>C	TOPMed
QSOX1	O00391	p.Gly56Arg	rs1433633382	missense variant	-	NC_000001.11:g.180155073G>C	TOPMed,gnomAD
QSOX1	O00391	p.Ser57Phe	rs758183518	missense variant	-	NC_000001.11:g.180155077C>T	ExAC,gnomAD
QSOX1	O00391	p.Arg58Cys	rs1315386530	missense variant	-	NC_000001.11:g.180155079C>T	gnomAD
QSOX1	O00391	p.Ser59Arg	rs570322502	missense variant	-	NC_000001.11:g.180155082A>C	1000Genomes,gnomAD
QSOX1	O00391	p.Ser59Gly	rs570322502	missense variant	-	NC_000001.11:g.180155082A>G	1000Genomes,gnomAD
QSOX1	O00391	p.Ala60Thr	rs1342152030	missense variant	-	NC_000001.11:g.180155085G>A	TOPMed,gnomAD
QSOX1	O00391	p.Ala62Val	rs1308226650	missense variant	-	NC_000001.11:g.180155092C>T	gnomAD
QSOX1	O00391	p.Val63Ala	rs1245273944	missense variant	-	NC_000001.11:g.180155095T>C	gnomAD
QSOX1	O00391	p.Val63Met	rs1318943926	missense variant	-	NC_000001.11:g.180155094G>A	TOPMed,gnomAD
QSOX1	O00391	p.Ala67Val	rs1232454589	missense variant	-	NC_000001.11:g.180155107C>T	gnomAD
QSOX1	O00391	p.Trp69Ser	rs921960050	missense variant	-	NC_000001.11:g.180155113G>C	TOPMed
QSOX1	O00391	p.Cys70Tyr	rs954696948	missense variant	-	NC_000001.11:g.180155116G>A	TOPMed
QSOX1	O00391	p.His72Leu	rs1212872825	missense variant	-	NC_000001.11:g.180155122A>T	gnomAD
QSOX1	O00391	p.Ile74Phe	rs1231135548	missense variant	-	NC_000001.11:g.180155127A>T	gnomAD
QSOX1	O00391	p.Ala75Asp	rs1177546470	missense variant	-	NC_000001.11:g.180155131C>A	gnomAD
QSOX1	O00391	p.Phe76Val	rs1431088237	missense variant	-	NC_000001.11:g.180155133T>G	TOPMed,gnomAD
QSOX1	O00391	p.Ala77Thr	rs777586068	missense variant	-	NC_000001.11:g.180155136G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro78Ala	rs1395097604	missense variant	-	NC_000001.11:g.180155139C>G	gnomAD
QSOX1	O00391	p.Thr79Met	rs1286804756	missense variant	-	NC_000001.11:g.180155143C>T	TOPMed
QSOX1	O00391	p.Trp80Cys	rs1353250738	missense variant	-	NC_000001.11:g.180155147G>T	gnomAD
QSOX1	O00391	p.Lys81Arg	rs1461973983	missense variant	-	NC_000001.11:g.180155149A>G	gnomAD
QSOX1	O00391	p.Leu83Val	rs1375990003	missense variant	-	NC_000001.11:g.180155154C>G	TOPMed,gnomAD
QSOX1	O00391	p.Leu83Arg	rs1389345238	missense variant	-	NC_000001.11:g.180155155T>G	TOPMed
QSOX1	O00391	p.Ala84Val	rs1438908648	missense variant	-	NC_000001.11:g.180155158C>T	TOPMed,gnomAD
QSOX1	O00391	p.Ala84Asp	rs1438908648	missense variant	-	NC_000001.11:g.180155158C>A	TOPMed,gnomAD
QSOX1	O00391	p.Glu85Ala	rs1212048509	missense variant	-	NC_000001.11:g.180155161A>C	gnomAD
QSOX1	O00391	p.Glu85Lys	rs1302977574	missense variant	-	NC_000001.11:g.180155160G>A	gnomAD
QSOX1	O00391	p.Asp86Asn	rs920325204	missense variant	-	NC_000001.11:g.180155163G>A	gnomAD
QSOX1	O00391	p.Val87Ile	rs745855911	missense variant	-	NC_000001.11:g.180155166G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val87Leu	rs745855911	missense variant	-	NC_000001.11:g.180155166G>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Lys88Glu	rs931500881	missense variant	-	NC_000001.11:g.180155169A>G	TOPMed,gnomAD
QSOX1	O00391	p.Ala89Pro	rs1465406777	missense variant	-	NC_000001.11:g.180155172G>C	gnomAD
QSOX1	O00391	p.Trp90Leu	COSM677775	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180166494G>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Pro92Leu	rs746532674	missense variant	-	NC_000001.11:g.180166500C>T	ExAC,gnomAD
QSOX1	O00391	p.Leu94Val	rs372037235	missense variant	-	NC_000001.11:g.180166505C>G	ESP,ExAC,gnomAD
QSOX1	O00391	p.Tyr95Cys	rs1057441838	missense variant	-	NC_000001.11:g.180166509A>G	TOPMed
QSOX1	O00391	p.Ala97Thr	rs375407780	missense variant	-	NC_000001.11:g.180166514G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala97Ser	rs375407780	missense variant	-	NC_000001.11:g.180166514G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala98Thr	rs201825048	missense variant	-	NC_000001.11:g.180166517G>A	NCI-TCGA,NCI-TCGA Cosmic
QSOX1	O00391	p.Ala98Thr	rs201825048	missense variant	-	NC_000001.11:g.180166517G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asp100Asn	rs375285118	missense variant	-	NC_000001.11:g.180166523G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala102Gly	rs1316513170	missense variant	-	NC_000001.11:g.180166530C>G	gnomAD
QSOX1	O00391	p.Glu103Lys	rs779969740	missense variant	-	NC_000001.11:g.180166532G>A	ExAC,gnomAD
QSOX1	O00391	p.Glu104Asp	rs149269903	missense variant	-	NC_000001.11:g.180166537G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu104Asp	rs149269903	missense variant	-	NC_000001.11:g.180166537G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Thr105Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180166539C>G	NCI-TCGA
QSOX1	O00391	p.Thr105Ser	rs148397885	missense variant	-	NC_000001.11:g.180166538A>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn106Ser	rs778980035	missense variant	-	NC_000001.11:g.180166542A>G	ExAC,gnomAD
QSOX1	O00391	p.Ser107Asn	rs1336694206	missense variant	-	NC_000001.11:g.180166545G>A	gnomAD
QSOX1	O00391	p.Ser107Gly	rs748443918	missense variant	-	NC_000001.11:g.180166544A>G	ExAC,gnomAD
QSOX1	O00391	p.Ala108Val	rs772042431	missense variant	-	NC_000001.11:g.180166548C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val109Phe	rs773399208	missense variant	-	NC_000001.11:g.180166550G>T	ExAC,gnomAD
QSOX1	O00391	p.Val109Ile	rs773399208	missense variant	-	NC_000001.11:g.180166550G>A	ExAC,gnomAD
QSOX1	O00391	p.Val109Leu	rs773399208	missense variant	-	NC_000001.11:g.180166550G>C	ExAC,gnomAD
QSOX1	O00391	p.Cys110Arg	rs1330036317	missense variant	-	NC_000001.11:g.180166553T>C	gnomAD
QSOX1	O00391	p.Cys110Ser	COSM1473096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180166553T>A	NCI-TCGA Cosmic
QSOX1	O00391	p.Phe113Leu	rs376417038	missense variant	-	NC_000001.11:g.180166564C>G	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn114Ser	rs3894211	missense variant	-	NC_000001.11:g.180166566A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ile115Val	rs1484972561	missense variant	-	NC_000001.11:g.180166568A>G	TOPMed,gnomAD
QSOX1	O00391	p.Pro116Leu	COSM6059852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180166572C>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Gly117Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180166575G>A	NCI-TCGA
QSOX1	O00391	p.Pro119Leu	rs1258587172	missense variant	-	NC_000001.11:g.180166581C>T	TOPMed,gnomAD
QSOX1	O00391	p.Val121Met	rs1157004338	missense variant	-	NC_000001.11:g.180166586G>A	gnomAD
QSOX1	O00391	p.Arg122Lys	rs955705755	missense variant	-	NC_000001.11:g.180166590G>A	TOPMed
QSOX1	O00391	p.Ala126Ser	rs778835833	missense variant	-	NC_000001.11:g.180175330G>T	ExAC,gnomAD
QSOX1	O00391	p.Phe127Ser	rs144560523	missense variant	-	NC_000001.11:g.180175334T>C	ESP,ExAC,gnomAD
QSOX1	O00391	p.Thr128Asn	rs777865350	missense variant	-	NC_000001.11:g.180175337C>A	ExAC
QSOX1	O00391	p.Asn130Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180175342A>G	NCI-TCGA
QSOX1	O00391	p.Gly131Ser	rs377697828	missense variant	-	NC_000001.11:g.180175345G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ser132Leu	rs770038519	missense variant	-	NC_000001.11:g.180175349C>T	ExAC,gnomAD
QSOX1	O00391	p.Ser132Leu	rs770038519	missense variant	-	NC_000001.11:g.180175349C>T	NCI-TCGA,NCI-TCGA Cosmic
QSOX1	O00391	p.Val135Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180175358T>A	NCI-TCGA
QSOX1	O00391	p.Val135Ile	rs1470664414	missense variant	-	NC_000001.11:g.180175357G>A	TOPMed
QSOX1	O00391	p.Phe136Ser	rs763228241	missense variant	-	NC_000001.11:g.180175361T>C	ExAC,gnomAD
QSOX1	O00391	p.Gly140Asp	rs763839616	missense variant	-	NC_000001.11:g.180175937G>A	ExAC,TOPMed
QSOX1	O00391	p.Ala141Thr	rs1416903589	missense variant	-	NC_000001.11:g.180175939G>A	gnomAD
QSOX1	O00391	p.Ala141Val	rs757492307	missense variant	-	NC_000001.11:g.180175940C>T	ExAC,gnomAD
QSOX1	O00391	p.Ala141Gly	rs757492307	missense variant	-	NC_000001.11:g.180175940C>G	ExAC,gnomAD
QSOX1	O00391	p.Asp142Glu	rs77576543	missense variant	-	NC_000001.11:g.180175944C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val143Met	rs756169623	missense variant	-	NC_000001.11:g.180175945G>A	ExAC,gnomAD
QSOX1	O00391	p.Val143Leu	rs756169623	missense variant	-	NC_000001.11:g.180175945G>C	ExAC,gnomAD
QSOX1	O00391	p.Val143Gly	rs749799207	missense variant	-	NC_000001.11:g.180175946T>G	ExAC
QSOX1	O00391	p.Val143Leu	rs756169623	missense variant	-	NC_000001.11:g.180175945G>T	ExAC,gnomAD
QSOX1	O00391	p.Gln144Pro	rs1318468651	missense variant	-	NC_000001.11:g.180175949A>C	gnomAD
QSOX1	O00391	p.Thr145Ile	rs779309103	missense variant	-	NC_000001.11:g.180175952C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg147Gln	rs776298447	missense variant	-	NC_000001.11:g.180175958G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg147Gly	rs770506728	missense variant	-	NC_000001.11:g.180175957C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg147Trp	rs770506728	missense variant	-	NC_000001.11:g.180175957C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg149Met	rs1179124644	missense variant	-	NC_000001.11:g.180175964G>T	TOPMed
QSOX1	O00391	p.Arg149Gly	rs1245732828	missense variant	-	NC_000001.11:g.180175963A>G	gnomAD
QSOX1	O00391	p.Ile151Thr	rs1204608154	missense variant	-	NC_000001.11:g.180175970T>C	gnomAD
QSOX1	O00391	p.Ala153Thr	rs775471998	missense variant	-	NC_000001.11:g.180175975G>A	ExAC,gnomAD
QSOX1	O00391	p.Leu154Gln	rs1489825240	missense variant	-	NC_000001.11:g.180175979T>A	TOPMed
QSOX1	O00391	p.Glu155Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180175983G>T	NCI-TCGA
QSOX1	O00391	p.Glu155Lys	rs1475433181	missense variant	-	NC_000001.11:g.180175981G>A	gnomAD
QSOX1	O00391	p.Ser156Thr	rs1267928702	missense variant	-	NC_000001.11:g.180175984T>A	TOPMed
QSOX1	O00391	p.His158Arg	rs1361686134	missense variant	-	NC_000001.11:g.180175991A>G	TOPMed,gnomAD
QSOX1	O00391	p.Asp159Val	rs1267435949	missense variant	-	NC_000001.11:g.180175994A>T	TOPMed
QSOX1	O00391	p.Thr160Ser	rs1452680690	missense variant	-	NC_000001.11:g.180175996A>T	gnomAD
QSOX1	O00391	p.Thr160Met	rs200899348	missense variant	-	NC_000001.11:g.180175997C>T	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro163Ser	rs1412238500	missense variant	-	NC_000001.11:g.180176005C>T	TOPMed
QSOX1	O00391	p.Ala164Thr	rs1355179294	missense variant	-	NC_000001.11:g.180176008G>A	gnomAD
QSOX1	O00391	p.Ala164Val	rs1344104676	missense variant	-	NC_000001.11:g.180176009C>T	TOPMed
QSOX1	O00391	p.Cys165Phe	rs767795642	missense variant	-	NC_000001.11:g.180176012G>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro167Ser	rs775600138	missense variant	-	NC_000001.11:g.180176017C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu168Val	rs761955056	missense variant	-	NC_000001.11:g.180176020C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu174Val	rs753255002	missense variant	-	NC_000001.11:g.180178799A>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu174Gly	rs753255002	missense variant	-	NC_000001.11:g.180178799A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu175Gly	rs778182297	missense variant	-	NC_000001.11:g.180178802A>G	ExAC,gnomAD
QSOX1	O00391	p.Ile176Val	rs745524961	missense variant	-	NC_000001.11:g.180178804A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ile176Thr	rs1439070756	missense variant	-	NC_000001.11:g.180178805T>C	gnomAD
QSOX1	O00391	p.Phe180Leu	rs755651687	missense variant	-	NC_000001.11:g.180178816T>C	ExAC,gnomAD
QSOX1	O00391	p.Ala181Val	rs761239969	stop gained	-	NC_000001.11:g.180178820C>T	NCI-TCGA,NCI-TCGA Cosmic
QSOX1	O00391	p.Ala181Gly	rs761239969	missense variant	-	NC_000001.11:g.180178820C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala181Val	rs761239969	missense variant	-	NC_000001.11:g.180178820C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn183Ser	rs768327518	missense variant	-	NC_000001.11:g.180178826A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu185Lys	rs892580630	missense variant	-	NC_000001.11:g.180178831G>A	TOPMed,gnomAD
QSOX1	O00391	p.Glu185Gln	rs892580630	missense variant	-	NC_000001.11:g.180178831G>C	TOPMed,gnomAD
QSOX1	O00391	p.Glu186Asp	rs748161387	missense variant	-	NC_000001.11:g.180178836G>C	ExAC,gnomAD
QSOX1	O00391	p.Ala189Val	rs760523395	missense variant	-	NC_000001.11:g.180178844C>T	ExAC,gnomAD
QSOX1	O00391	p.Ala189Pro	rs772824314	missense variant	-	NC_000001.11:g.180178843G>C	ExAC,gnomAD
QSOX1	O00391	p.Leu190Val	rs573609481	missense variant	-	NC_000001.11:g.180178846C>G	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Glu193Ala	rs374581260	missense variant	-	NC_000001.11:g.180178856A>C	ESP,ExAC,TOPMed
QSOX1	O00391	p.Lys194Thr	rs774680958	missense variant	-	NC_000001.11:g.180178859A>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Lys194Asn	rs1426243997	missense variant	-	NC_000001.11:g.180178860G>C	gnomAD
QSOX1	O00391	p.Gly196Cys	rs1460016702	missense variant	-	NC_000001.11:g.180178864G>T	gnomAD
QSOX1	O00391	p.Gly196Ala	rs1325499361	missense variant	-	NC_000001.11:g.180178865G>C	gnomAD
QSOX1	O00391	p.Ser197Phe	rs368077994	missense variant	-	NC_000001.11:g.180178868C>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Tyr198His	rs201938628	missense variant	-	NC_000001.11:g.180178870T>C	TOPMed,gnomAD
QSOX1	O00391	p.Leu199Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180178873C>A	NCI-TCGA
QSOX1	O00391	p.Gly200Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180178876G>C	NCI-TCGA
QSOX1	O00391	p.Gly200Ala	rs17855475	missense variant	-	NC_000001.11:g.180178877G>C	UniProt,dbSNP
QSOX1	O00391	p.Gly200Ala	VAR_027430	missense variant	-	NC_000001.11:g.180178877G>C	UniProt
QSOX1	O00391	p.Gly200Ala	rs17855475	missense variant	-	NC_000001.11:g.180178877G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg201Gly	rs757659432	missense variant	-	NC_000001.11:g.180178879A>G	ExAC,gnomAD
QSOX1	O00391	p.Val203Met	rs1187264413	missense variant	-	NC_000001.11:g.180182174G>A	gnomAD
QSOX1	O00391	p.Ala204Thr	rs1473860446	missense variant	-	NC_000001.11:g.180182177G>A	gnomAD
QSOX1	O00391	p.Leu205Val	rs1351883097	missense variant	-	NC_000001.11:g.180182180C>G	TOPMed,gnomAD
QSOX1	O00391	p.Asp206Gly	rs375987559	missense variant	-	NC_000001.11:g.180182184A>G	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ser208Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180182189T>C	NCI-TCGA
QSOX1	O00391	p.Ser208Phe	rs369642360	missense variant	-	NC_000001.11:g.180182190C>T	ESP,TOPMed,gnomAD
QSOX1	O00391	p.Ser208Cys	rs369642360	missense variant	-	NC_000001.11:g.180182190C>G	ESP,TOPMed,gnomAD
QSOX1	O00391	p.His210Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180182195C>G	NCI-TCGA
QSOX1	O00391	p.Val213Met	rs201057145	missense variant	-	NC_000001.11:g.180182204G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val213Leu	rs201057145	missense variant	-	NC_000001.11:g.180182204G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala214Val	rs74997002	missense variant	-	NC_000001.11:g.180182208C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val215Met	rs1433454513	missense variant	-	NC_000001.11:g.180182210G>A	TOPMed
QSOX1	O00391	p.Arg216Cys	rs745681231	missense variant	-	NC_000001.11:g.180182213C>T	ExAC,gnomAD
QSOX1	O00391	p.Arg216Leu	rs149484554	missense variant	-	NC_000001.11:g.180182214G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg216His	rs149484554	missense variant	-	NC_000001.11:g.180182214G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val218Met	rs768818522	missense variant	-	NC_000001.11:g.180182219G>A	ExAC,gnomAD
QSOX1	O00391	p.Thr221Ala	rs1200388799	missense variant	-	NC_000001.11:g.180182228A>G	gnomAD
QSOX1	O00391	p.Glu222Gly	rs1279711277	missense variant	-	NC_000001.11:g.180182232A>G	gnomAD
QSOX1	O00391	p.Asn224Ser	rs773645175	missense variant	-	NC_000001.11:g.180182238A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val226Glu	rs761152127	missense variant	-	NC_000001.11:g.180182244T>A	ExAC,gnomAD
QSOX1	O00391	p.Phe229Ser	rs752448005	missense variant	-	NC_000001.11:g.180182253T>C	ExAC,gnomAD
QSOX1	O00391	p.Gly230Asp	rs763729449	missense variant	-	NC_000001.11:g.180182256G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly230Ser	rs757818039	missense variant	-	NC_000001.11:g.180182255G>A	ExAC,gnomAD
QSOX1	O00391	p.Val231Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180182259T>C	NCI-TCGA
QSOX1	O00391	p.Thr232Ala	rs1450063787	missense variant	-	NC_000001.11:g.180182261A>G	TOPMed
QSOX1	O00391	p.Asp233Asn	rs570361846	missense variant	-	NC_000001.11:g.180182264G>A	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Phe234Ser	rs1330482509	missense variant	-	NC_000001.11:g.180182268T>C	gnomAD
QSOX1	O00391	p.Phe234Leu	rs201050141	missense variant	-	NC_000001.11:g.180182267T>C	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Ser236LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.180182269C>-	NCI-TCGA
QSOX1	O00391	p.Ser236Cys	rs1400551478	missense variant	-	NC_000001.11:g.180182274C>G	gnomAD
QSOX1	O00391	p.Cys237Ser	rs745609786	missense variant	-	NC_000001.11:g.180182276T>A	ExAC,gnomAD
QSOX1	O00391	p.Tyr238Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180182280A>G	NCI-TCGA
QSOX1	O00391	p.Tyr238His	rs1361820624	missense variant	-	NC_000001.11:g.180182279T>C	gnomAD
QSOX1	O00391	p.Leu240Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180182285C>A	NCI-TCGA
QSOX1	O00391	p.Phe241Ser	rs780215770	missense variant	-	NC_000001.11:g.180182289T>C	ExAC,gnomAD
QSOX1	O00391	p.Phe241Cys	rs780215770	missense variant	-	NC_000001.11:g.180182289T>G	ExAC,gnomAD
QSOX1	O00391	p.Arg242Trp	rs200481798	missense variant	-	NC_000001.11:g.180182291C>T	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg242Gln	rs148485913	missense variant	-	NC_000001.11:g.180182292G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly244Asp	rs890271200	missense variant	-	NC_000001.11:g.180182298G>A	TOPMed
QSOX1	O00391	p.Val246Ile	rs748181022	missense variant	-	NC_000001.11:g.180182303G>A	ExAC,gnomAD
QSOX1	O00391	p.Arg248Gly	rs1008800112	missense variant	-	NC_000001.11:g.180182309C>G	TOPMed,gnomAD
QSOX1	O00391	p.Arg248Gln	rs968998313	missense variant	-	NC_000001.11:g.180182310G>A	gnomAD
QSOX1	O00391	p.Arg248Ter	rs1008800112	stop gained	-	NC_000001.11:g.180182309C>T	TOPMed,gnomAD
QSOX1	O00391	p.Val249Ile	rs1458334672	missense variant	-	NC_000001.11:g.180182312G>A	gnomAD
QSOX1	O00391	p.Pro250Ser	COSM3479433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180182315C>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Val251Met	rs769299023	missense variant	-	NC_000001.11:g.180182318G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val251Leu	rs769299023	missense variant	-	NC_000001.11:g.180182318G>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Met253Ile	COSM900449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180183922G>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Ser257Phe	rs1465095299	missense variant	-	NC_000001.11:g.180183933C>T	TOPMed
QSOX1	O00391	p.Phe258Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180183937C>A	NCI-TCGA
QSOX1	O00391	p.Phe258Leu	rs377358722	missense variant	-	NC_000001.11:g.180183935T>C	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Tyr259Cys	rs760547195	missense variant	-	NC_000001.11:g.180183939A>G	ExAC,gnomAD
QSOX1	O00391	p.Ala261Thr	rs753621176	missense variant	-	NC_000001.11:g.180183944G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gln264Ter	rs1351626580	stop gained	-	NC_000001.11:g.180183953C>T	gnomAD
QSOX1	O00391	p.Gln264Arg	rs754761140	missense variant	-	NC_000001.11:g.180183954A>G	ExAC,gnomAD
QSOX1	O00391	p.Gln264His	rs779163826	missense variant	-	NC_000001.11:g.180183955G>C	ExAC,gnomAD
QSOX1	O00391	p.Arg265Lys	rs752910472	missense variant	-	NC_000001.11:g.180183957G>A	ExAC,gnomAD
QSOX1	O00391	p.Leu266Phe	rs1255225250	missense variant	-	NC_000001.11:g.180183959C>T	TOPMed,gnomAD
QSOX1	O00391	p.Leu266Val	rs1255225250	missense variant	-	NC_000001.11:g.180183959C>G	TOPMed,gnomAD
QSOX1	O00391	p.Leu266His	rs1423975061	missense variant	-	NC_000001.11:g.180183960T>A	TOPMed,gnomAD
QSOX1	O00391	p.Gly268Glu	rs758537573	missense variant	-	NC_000001.11:g.180183966G>A	ExAC,gnomAD
QSOX1	O00391	p.Thr270Asn	rs1361521098	missense variant	-	NC_000001.11:g.180183972C>A	gnomAD
QSOX1	O00391	p.Ala273Ser	rs994524552	missense variant	-	NC_000001.11:g.180183980G>T	TOPMed
QSOX1	O00391	p.Ala274Val	rs778063550	missense variant	-	NC_000001.11:g.180183984C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala274Ser	rs1361714354	missense variant	-	NC_000001.11:g.180183983G>T	gnomAD
QSOX1	O00391	p.Thr276Ala	rs1401958178	missense variant	-	NC_000001.11:g.180183989A>G	gnomAD
QSOX1	O00391	p.Thr277Ala	rs985057113	missense variant	-	NC_000001.11:g.180183992A>G	TOPMed
QSOX1	O00391	p.Val278Ala	rs747088025	missense variant	-	NC_000001.11:g.180183996T>C	ExAC,gnomAD
QSOX1	O00391	p.Val278Phe	COSM900450	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180183995G>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Ala279Gly	rs140969999	missense variant	-	NC_000001.11:g.180183999C>G	ESP,ExAC,gnomAD
QSOX1	O00391	p.Pro280Ser	rs781568463	missense variant	-	NC_000001.11:g.180184001C>T	ExAC,gnomAD
QSOX1	O00391	p.Thr282Ile	rs1310164754	missense variant	-	NC_000001.11:g.180184008C>T	gnomAD
QSOX1	O00391	p.Ala283Thr	COSM3803052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180184010G>A	NCI-TCGA Cosmic
QSOX1	O00391	p.Asn284Lys	rs1207956213	missense variant	-	NC_000001.11:g.180184015C>A	gnomAD
QSOX1	O00391	p.Ile286Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180184021A>G	NCI-TCGA
QSOX1	O00391	p.Ile286Val	rs1412905968	missense variant	-	NC_000001.11:g.180184019A>G	TOPMed
QSOX1	O00391	p.Ala287Val	rs746217745	missense variant	-	NC_000001.11:g.180184023C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val290Leu	rs770108782	missense variant	-	NC_000001.11:g.180184031G>C	ExAC,gnomAD
QSOX1	O00391	p.Val290Ile	rs770108782	missense variant	-	NC_000001.11:g.180184031G>A	ExAC,gnomAD
QSOX1	O00391	p.Lys292Arg	rs1173728756	missense variant	-	NC_000001.11:g.180184038A>G	TOPMed
QSOX1	O00391	p.Lys292Asn	rs774043721	missense variant	-	NC_000001.11:g.180184039A>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu293Trp	rs771718981	missense variant	-	NC_000001.11:g.180184041T>G	ExAC,gnomAD
QSOX1	O00391	p.Ala294Ser	rs2278943	missense variant	-	NC_000001.11:g.180184043G>T	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala294Ser	rs2278943	missense variant	-	NC_000001.11:g.180184043G>T	UniProt,dbSNP
QSOX1	O00391	p.Ala294Ser	VAR_027432	missense variant	-	NC_000001.11:g.180184043G>T	UniProt
QSOX1	O00391	p.Asp295His	rs1228520344	missense variant	-	NC_000001.11:g.180184046G>C	TOPMed,gnomAD
QSOX1	O00391	p.Arg296Ser	rs146785605	missense variant	-	NC_000001.11:g.180184049C>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg296Cys	rs146785605	missense variant	-	NC_000001.11:g.180184049C>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Lys298Arg	rs772883091	missense variant	-	NC_000001.11:g.180186058A>G	ExAC,gnomAD
QSOX1	O00391	p.Lys298Asn	COSM284421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180186059G>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Ile299Val	rs1465255461	missense variant	-	NC_000001.11:g.180186060A>G	TOPMed,gnomAD
QSOX1	O00391	p.Ile299Phe	rs1465255461	missense variant	-	NC_000001.11:g.180186060A>T	TOPMed,gnomAD
QSOX1	O00391	p.Tyr300Cys	rs746492167	missense variant	-	NC_000001.11:g.180186064A>G	ExAC,gnomAD
QSOX1	O00391	p.Ala302Ser	COSM4025684	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180186069G>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Leu304Pro	rs1402777124	missense variant	-	NC_000001.11:g.180186076T>C	gnomAD
QSOX1	O00391	p.Leu308Pro	rs145881420	missense variant	-	NC_000001.11:g.180186088T>C	ESP,TOPMed,gnomAD
QSOX1	O00391	p.Arg313Gln	rs776616830	missense variant	-	NC_000001.11:g.180186103G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg313Trp	rs1047353611	missense variant	-	NC_000001.11:g.180186102C>T	TOPMed,gnomAD
QSOX1	O00391	p.Glu315Gly	rs765222717	missense variant	-	NC_000001.11:g.180186109A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu315Ter	rs759457357	stop gained	-	NC_000001.11:g.180186108G>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg318Thr	rs775364886	missense variant	-	NC_000001.11:g.180186118G>C	ExAC,gnomAD
QSOX1	O00391	p.Arg318Ser	rs543057324	missense variant	-	NC_000001.11:g.180186119G>C	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Pro320Leu	rs200808149	missense variant	-	NC_000001.11:g.180186124C>T	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val321Ile	rs1414580293	missense variant	-	NC_000001.11:g.180186126G>A	gnomAD
QSOX1	O00391	p.Gly324Arg	rs767563398	missense variant	-	NC_000001.11:g.180186135G>A	ExAC,gnomAD
QSOX1	O00391	p.Gln325Arg	rs750523643	missense variant	-	NC_000001.11:g.180186139A>G	ExAC,gnomAD
QSOX1	O00391	p.Arg326His	rs747164407	missense variant	-	NC_000001.11:g.180186142G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg326Leu	rs747164407	missense variant	-	NC_000001.11:g.180186142G>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg326Cys	rs189319097	missense variant	-	NC_000001.11:g.180186141C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu327Val	rs1164095511	missense variant	-	NC_000001.11:g.180186144C>G	gnomAD
QSOX1	O00391	p.Leu330Pro	rs565169426	missense variant	-	NC_000001.11:g.180186154T>C	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Lys331Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180186157A>C	NCI-TCGA
QSOX1	O00391	p.Lys331Asn	rs981366686	missense variant	-	NC_000001.11:g.180186158A>C	TOPMed,gnomAD
QSOX1	O00391	p.Lys331Asn	rs981366686	missense variant	-	NC_000001.11:g.180186158A>T	TOPMed,gnomAD
QSOX1	O00391	p.Lys332Gln	rs1214226905	missense variant	-	NC_000001.11:g.180186159A>C	TOPMed
QSOX1	O00391	p.Lys332Arg	COSM4025687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180186160A>G	NCI-TCGA Cosmic
QSOX1	O00391	p.Phe333Tyr	rs527768719	missense variant	-	NC_000001.11:g.180186163T>A	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Phe333Leu	rs770468962	missense variant	-	NC_000001.11:g.180186164T>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Phe333Cys	rs527768719	missense variant	-	NC_000001.11:g.180186163T>G	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Phe333Ser	rs527768719	missense variant	-	NC_000001.11:g.180186163T>C	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Phe333Leu	rs1339807620	missense variant	-	NC_000001.11:g.180186162T>C	gnomAD
QSOX1	O00391	p.Ala335Val	rs950408515	missense variant	-	NC_000001.11:g.180186169C>T	TOPMed
QSOX1	O00391	p.Ala335Ser	rs1376434744	missense variant	-	NC_000001.11:g.180186168G>T	gnomAD
QSOX1	O00391	p.Pro342Ser	COSM3479434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189558C>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Gly343Cys	rs1485600984	missense variant	-	NC_000001.11:g.180189561G>T	TOPMed
QSOX1	O00391	p.Gly343Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180189562G>A	NCI-TCGA
QSOX1	O00391	p.Arg344Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180189564C>G	NCI-TCGA
QSOX1	O00391	p.Arg344Trp	rs773523866	missense variant	-	NC_000001.11:g.180189564C>T	ExAC,gnomAD
QSOX1	O00391	p.Arg344Gln	rs760649166	missense variant	-	NC_000001.11:g.180189565G>A	ExAC,gnomAD
QSOX1	O00391	p.Arg344Leu	COSM6059851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189565G>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Leu346Val	rs759968711	missense variant	-	NC_000001.11:g.180189570T>G	ExAC,gnomAD
QSOX1	O00391	p.Leu346Ile	rs759968711	missense variant	-	NC_000001.11:g.180189570T>A	ExAC,gnomAD
QSOX1	O00391	p.Gln348His	rs752953260	missense variant	-	NC_000001.11:g.180189578G>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gln348Lys	rs765745199	missense variant	-	NC_000001.11:g.180189576C>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn349Lys	COSM4025688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189581C>G	NCI-TCGA Cosmic
QSOX1	O00391	p.Leu351Val	rs758819192	missense variant	-	NC_000001.11:g.180189585C>G	ExAC,gnomAD
QSOX1	O00391	p.Leu351Pro	rs1279864891	missense variant	-	NC_000001.11:g.180189586T>C	gnomAD
QSOX1	O00391	p.Leu351Met	COSM1336782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189585C>A	NCI-TCGA Cosmic
QSOX1	O00391	p.His352Tyr	rs780674090	missense variant	-	NC_000001.11:g.180189588C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ser353Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180189592C>A	NCI-TCGA
QSOX1	O00391	p.Ser353Phe	rs535977866	missense variant	-	NC_000001.11:g.180189592C>T	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Val354Met	rs148353050	missense variant	-	NC_000001.11:g.180189594G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val354Leu	rs148353050	missense variant	-	NC_000001.11:g.180189594G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val354Leu	rs148353050	missense variant	-	NC_000001.11:g.180189594G>C	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn355Ser	rs1244894316	missense variant	-	NC_000001.11:g.180189598A>G	gnomAD
QSOX1	O00391	p.Asn355Thr	rs1244894316	missense variant	-	NC_000001.11:g.180189598A>C	gnomAD
QSOX1	O00391	p.Glu356Lys	rs768668241	missense variant	-	NC_000001.11:g.180189600G>A	ExAC,gnomAD
QSOX1	O00391	p.Trp357Cys	rs147174133	missense variant	-	NC_000001.11:g.180189605G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Trp357Arg	rs779027986	missense variant	-	NC_000001.11:g.180189603T>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu358Ile	rs771951030	missense variant	-	NC_000001.11:g.180189606C>A	ExAC,gnomAD
QSOX1	O00391	p.Leu358Pro	rs773294213	missense variant	-	NC_000001.11:g.180189607T>C	ExAC,gnomAD
QSOX1	O00391	p.Lys359Glu	rs1434605561	missense variant	-	NC_000001.11:g.180189609A>G	gnomAD
QSOX1	O00391	p.Gln361Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180189616A>G	NCI-TCGA
QSOX1	O00391	p.Gln361Glu	rs761024065	missense variant	-	NC_000001.11:g.180189615C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gln361Pro	rs771146454	missense variant	-	NC_000001.11:g.180189616A>C	ExAC,gnomAD
QSOX1	O00391	p.Arg363Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180189622G>T	NCI-TCGA
QSOX1	O00391	p.Arg363Lys	rs776632189	missense variant	-	NC_000001.11:g.180189622G>A	ExAC,gnomAD
QSOX1	O00391	p.Asn364Asp	rs759633607	missense variant	-	NC_000001.11:g.180189624A>G	ExAC,gnomAD
QSOX1	O00391	p.Lys365Gln	rs1172233637	missense variant	-	NC_000001.11:g.180189627A>C	gnomAD
QSOX1	O00391	p.Pro367Leu	COSM4458842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189634C>T	NCI-TCGA Cosmic
QSOX1	O00391	p.TyrSer368Ter	rs1284273190	stop gained	-	NC_000001.11:g.180189638_180189639del	gnomAD
QSOX1	O00391	p.Ser369Gly	rs200058535	missense variant	-	NC_000001.11:g.180189639A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Phe370Leu	COSM208358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180189644C>A	NCI-TCGA Cosmic
QSOX1	O00391	p.Ala374Ser	rs1176969780	missense variant	-	NC_000001.11:g.180189654G>T	TOPMed
QSOX1	O00391	p.Ala374Thr	rs1176969780	missense variant	-	NC_000001.11:g.180189654G>A	TOPMed
QSOX1	O00391	p.Asp377Asn	rs568957643	missense variant	-	NC_000001.11:g.180189663G>A	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala382Asp	rs1316816978	missense variant	-	NC_000001.11:g.180190437C>A	TOPMed
QSOX1	O00391	p.Val383Leu	rs764868665	missense variant	-	NC_000001.11:g.180190439G>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val383Ile	rs764868665	missense variant	-	NC_000001.11:g.180190439G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu384Val	rs572991409	missense variant	-	NC_000001.11:g.180190442C>G	gnomAD
QSOX1	O00391	p.Leu384Arg	rs752152161	missense variant	-	NC_000001.11:g.180190443T>G	ExAC,gnomAD
QSOX1	O00391	p.Leu384Pro	COSM900453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180190443T>C	NCI-TCGA Cosmic
QSOX1	O00391	p.Leu384Phe	rs572991409	missense variant	-	NC_000001.11:g.180190442C>T	gnomAD
QSOX1	O00391	p.Lys387Glu	rs758297162	missense variant	-	NC_000001.11:g.180190451A>G	ExAC,gnomAD
QSOX1	O00391	p.Lys387Thr	rs1282250767	missense variant	-	NC_000001.11:g.180190452A>C	TOPMed
QSOX1	O00391	p.Val388Met	rs149960435	missense variant	-	NC_000001.11:g.180190454G>A	ESP,TOPMed,gnomAD
QSOX1	O00391	p.Val388Leu	rs149960435	missense variant	-	NC_000001.11:g.180190454G>T	ESP,TOPMed,gnomAD
QSOX1	O00391	p.Asn389Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180190459C>G	NCI-TCGA
QSOX1	O00391	p.Asn389Ser	rs777591494	missense variant	-	NC_000001.11:g.180190458A>G	ExAC,gnomAD
QSOX1	O00391	p.Gly392Val	rs1286588231	missense variant	-	NC_000001.11:g.180190467G>T	TOPMed
QSOX1	O00391	p.Cys393Phe	rs746764395	missense variant	-	NC_000001.11:g.180190470G>T	ExAC,gnomAD
QSOX1	O00391	p.Gln394Arg	rs1000339032	missense variant	-	NC_000001.11:g.180190473A>G	TOPMed
QSOX1	O00391	p.Pro398Leu	rs201390473	missense variant	-	NC_000001.11:g.180190485C>T	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.His399Asp	rs143670617	missense variant	-	NC_000001.11:g.180190487C>G	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.His399Tyr	rs143670617	missense variant	-	NC_000001.11:g.180190487C>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.His399Arg	COSM6059850	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180190488A>G	NCI-TCGA Cosmic
QSOX1	O00391	p.Arg401Trp	rs1024762115	missense variant	-	NC_000001.11:g.180190493C>T	TOPMed,gnomAD
QSOX1	O00391	p.Pro404Thr	rs775586559	missense variant	-	NC_000001.11:g.180190502C>A	ExAC,gnomAD
QSOX1	O00391	p.Pro404Leu	COSM3479436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180190503C>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Val409Ala	rs1184856837	missense variant	-	NC_000001.11:g.180190518T>C	TOPMed
QSOX1	O00391	p.His412Arg	rs1211054816	missense variant	-	NC_000001.11:g.180190527A>G	TOPMed
QSOX1	O00391	p.Val416Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180190538G>T	NCI-TCGA
QSOX1	O00391	p.Gln417Arg	rs1158610307	missense variant	-	NC_000001.11:g.180190542A>G	gnomAD
QSOX1	O00391	p.Gln417Ter	rs1262858843	stop gained	-	NC_000001.11:g.180190541C>T	TOPMed
QSOX1	O00391	p.Ala418Ser	rs200237514	missense variant	-	NC_000001.11:g.180190544G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala418Thr	rs200237514	missense variant	-	NC_000001.11:g.180190544G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala419Pro	rs1455653538	missense variant	-	NC_000001.11:g.180190547G>C	gnomAD
QSOX1	O00391	p.Arg420Gly	rs759196856	missense variant	-	NC_000001.11:g.180190550C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg420Trp	rs759196856	missense variant	-	NC_000001.11:g.180190550C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg420Gln	rs373717097	missense variant	-	NC_000001.11:g.180190551G>A	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gln421Lys	rs1042530385	missense variant	-	NC_000001.11:g.180190553C>A	TOPMed,gnomAD
QSOX1	O00391	p.Gln421Pro	rs902569201	missense variant	-	NC_000001.11:g.180190554A>C	TOPMed
QSOX1	O00391	p.Asn422Asp	rs752199880	missense variant	-	NC_000001.11:g.180190556A>G	ExAC,gnomAD
QSOX1	O00391	p.Val423Ala	rs1374795400	missense variant	-	NC_000001.11:g.180190560T>C	gnomAD
QSOX1	O00391	p.His425Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180190567C>G	NCI-TCGA
QSOX1	O00391	p.His425Leu	rs762400138	missense variant	-	NC_000001.11:g.180190566A>T	ExAC,gnomAD
QSOX1	O00391	p.His425Gln	rs764057633	missense variant	-	NC_000001.11:g.180190567C>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gln427Lys	rs1016751683	missense variant	-	NC_000001.11:g.180190571C>A	TOPMed,gnomAD
QSOX1	O00391	p.Gln427Glu	rs1016751683	missense variant	-	NC_000001.11:g.180190571C>G	TOPMed,gnomAD
QSOX1	O00391	p.Gln427Arg	rs1255195287	missense variant	-	NC_000001.11:g.180190572A>G	gnomAD
QSOX1	O00391	p.Glu428Val	rs1379580568	missense variant	-	NC_000001.11:g.180190575A>T	TOPMed
QSOX1	O00391	p.Ala430Thr	rs751544930	missense variant	-	NC_000001.11:g.180190580G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Lys433Glu	rs1477620302	missense variant	-	NC_000001.11:g.180194221A>G	TOPMed,gnomAD
QSOX1	O00391	p.Lys433Arg	rs748251119	missense variant	-	NC_000001.11:g.180194222A>G	ExAC,gnomAD
QSOX1	O00391	p.Glu434Ala	rs772657236	missense variant	-	NC_000001.11:g.180194225A>C	ExAC,gnomAD
QSOX1	O00391	p.Val435Ala	rs1456290108	missense variant	-	NC_000001.11:g.180194228T>C	gnomAD
QSOX1	O00391	p.Leu436Phe	rs778453802	missense variant	-	NC_000001.11:g.180194230C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala438Thr	rs771245325	missense variant	-	NC_000001.11:g.180194236G>A	ExAC,gnomAD
QSOX1	O00391	p.Ile439Met	rs1465366923	missense variant	-	NC_000001.11:g.180194241C>G	TOPMed
QSOX1	O00391	p.Ile439Thr	rs1296822033	missense variant	-	NC_000001.11:g.180194240T>C	TOPMed
QSOX1	O00391	p.Ile439Val	rs1276146675	missense variant	-	NC_000001.11:g.180194239A>G	TOPMed,gnomAD
QSOX1	O00391	p.Arg440Gln	rs369244005	missense variant	-	NC_000001.11:g.180194243G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg440Ter	rs1339376551	stop gained	-	NC_000001.11:g.180194242C>T	gnomAD
QSOX1	O00391	p.Gly441Val	rs1297034956	missense variant	-	NC_000001.11:g.180194246G>T	gnomAD
QSOX1	O00391	p.Val443Leu	rs770422054	missense variant	-	NC_000001.11:g.180194251G>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val443Met	rs770422054	missense variant	-	NC_000001.11:g.180194251G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.His444Arg	rs12371	missense variant	-	NC_000001.11:g.180194255A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.His444Tyr	rs1416488391	missense variant	-	NC_000001.11:g.180194254C>T	TOPMed
QSOX1	O00391	p.Phe446Ile	rs761348578	missense variant	-	NC_000001.11:g.180194260T>A	ExAC,gnomAD
QSOX1	O00391	p.Gly448Ser	rs773186341	missense variant	-	NC_000001.11:g.180194266G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Cys449Arg	rs1176416780	missense variant	-	NC_000001.11:g.180194269T>C	TOPMed
QSOX1	O00391	p.Cys449Trp	rs539884178	missense variant	-	NC_000001.11:g.180194271C>G	1000Genomes,gnomAD
QSOX1	O00391	p.Arg450Gln	rs766153769	missense variant	-	NC_000001.11:g.180194273G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg450Ter	rs1422113978	stop gained	-	NC_000001.11:g.180194272C>T	gnomAD
QSOX1	O00391	p.Cys452Ser	rs1385785865	missense variant	-	NC_000001.11:g.180194279G>C	TOPMed,gnomAD
QSOX1	O00391	p.Cys452Tyr	rs1385785865	missense variant	-	NC_000001.11:g.180194279G>A	TOPMed,gnomAD
QSOX1	O00391	p.Ala453Thr	rs202144688	missense variant	-	NC_000001.11:g.180194281G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala453Ser	rs202144688	missense variant	-	NC_000001.11:g.180194281G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala453Val	rs1359689586	missense variant	-	NC_000001.11:g.180194282C>T	gnomAD
QSOX1	O00391	p.Ser454Gly	rs765577245	missense variant	-	NC_000001.11:g.180194284A>G	ExAC,gnomAD
QSOX1	O00391	p.His455Arg	rs141786318	missense variant	-	NC_000001.11:g.180194288A>G	ESP,TOPMed,gnomAD
QSOX1	O00391	p.Glu457Gln	rs758589984	missense variant	-	NC_000001.11:g.180194293G>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu457Lys	rs758589984	missense variant	-	NC_000001.11:g.180194293G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu457Ter	rs758589984	stop gained	-	NC_000001.11:g.180194293G>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gln458His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180194298G>C	NCI-TCGA
QSOX1	O00391	p.Met459Ile	rs778400897	missense variant	-	NC_000001.11:g.180194301G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala460Thr	rs1248827252	missense variant	-	NC_000001.11:g.180194302G>A	gnomAD
QSOX1	O00391	p.Ala461Val	rs372695733	missense variant	-	NC_000001.11:g.180194306C>T	ExAC,gnomAD
QSOX1	O00391	p.Ala461Gly	rs372695733	missense variant	-	NC_000001.11:g.180194306C>G	ExAC,gnomAD
QSOX1	O00391	p.Ala461Asp	rs372695733	missense variant	-	NC_000001.11:g.180194306C>A	ExAC,gnomAD
QSOX1	O00391	p.Ser463Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180194312C>G	NCI-TCGA
QSOX1	O00391	p.Met464Thr	rs1482439347	missense variant	-	NC_000001.11:g.180194315T>C	TOPMed,gnomAD
QSOX1	O00391	p.Met464Val	rs781341728	missense variant	-	NC_000001.11:g.180194314A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.His465Tyr	rs1182994532	missense variant	-	NC_000001.11:g.180194317C>T	gnomAD
QSOX1	O00391	p.Arg466Trp	rs746254561	missense variant	-	NC_000001.11:g.180194320C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg466Gln	rs546683425	missense variant	-	NC_000001.11:g.180194321G>A	1000Genomes,ExAC,TOPMed
QSOX1	O00391	p.Val467Met	rs143337247	missense variant	-	NC_000001.11:g.180194323G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val467Leu	COSM4025689	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180194323G>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Gly468Glu	rs375868641	missense variant	-	NC_000001.11:g.180194327G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ser469ValPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.180194325G>-	NCI-TCGA
QSOX1	O00391	p.Ser469Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180194330G>T	NCI-TCGA
QSOX1	O00391	p.Ser469Asn	rs771629082	missense variant	-	NC_000001.11:g.180194330G>A	ExAC,gnomAD
QSOX1	O00391	p.Asn471Lys	rs760465139	missense variant	-	NC_000001.11:g.180194337C>A	ExAC,gnomAD
QSOX1	O00391	p.Asn471Ser	rs773197994	missense variant	-	NC_000001.11:g.180194336A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn471His	rs1440135295	missense variant	-	NC_000001.11:g.180194335A>C	TOPMed
QSOX1	O00391	p.Ala472Val	rs759405690	missense variant	-	NC_000001.11:g.180194339C>T	ExAC,gnomAD
QSOX1	O00391	p.Ala472Thr	rs535449667	missense variant	-	NC_000001.11:g.180194338G>A	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala473Ser	rs370455042	missense variant	-	NC_000001.11:g.180194341G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala473Thr	rs370455042	missense variant	-	NC_000001.11:g.180194341G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val474Ala	rs758535637	missense variant	-	NC_000001.11:g.180194345T>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu475Phe	COSM3479439	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180194347C>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Trp476Ter	rs751660834	stop gained	-	NC_000001.11:g.180194351G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Trp476Cys	rs1240014127	missense variant	-	NC_000001.11:g.180194352G>T	TOPMed
QSOX1	O00391	p.Trp478Gly	rs781739962	missense variant	-	NC_000001.11:g.180194356T>G	ExAC
QSOX1	O00391	p.Trp478Cys	rs746190261	missense variant	-	NC_000001.11:g.180194358G>T	ExAC
QSOX1	O00391	p.Ser479Phe	rs756523903	missense variant	-	NC_000001.11:g.180194360C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ser480Gly	rs1013295287	missense variant	-	NC_000001.11:g.180194362A>G	TOPMed
QSOX1	O00391	p.His481Tyr	rs747863848	missense variant	-	NC_000001.11:g.180194365C>T	ExAC,gnomAD
QSOX1	O00391	p.Asn482Ser	rs771716954	missense variant	-	NC_000001.11:g.180194369A>G	ExAC,gnomAD
QSOX1	O00391	p.Val484Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180194375T>G	NCI-TCGA
QSOX1	O00391	p.Asn485Ser	rs116570033	missense variant	-	NC_000001.11:g.180194378A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala486Gly	rs184302868	missense variant	-	NC_000001.11:g.180194381C>G	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Ala486Thr	rs746553088	missense variant	-	NC_000001.11:g.180194380G>A	ExAC,gnomAD
QSOX1	O00391	p.Arg487Cys	rs776668054	missense variant	-	NC_000001.11:g.180194383C>T	ExAC,gnomAD
QSOX1	O00391	p.Arg487His	rs145185695	missense variant	-	NC_000001.11:g.180194384G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala491Asp	rs61734470	missense variant	-	NC_000001.11:g.180196265C>A	TOPMed,gnomAD
QSOX1	O00391	p.Ala491Thr	rs770523926	missense variant	-	NC_000001.11:g.180196264G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala491Ser	rs770523926	missense variant	-	NC_000001.11:g.180196264G>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro492His	rs1396624860	missense variant	-	NC_000001.11:g.180196268C>A	TOPMed,gnomAD
QSOX1	O00391	p.Pro492Leu	rs1396624860	missense variant	-	NC_000001.11:g.180196268C>T	TOPMed,gnomAD
QSOX1	O00391	p.Ser493Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196271G>A	NCI-TCGA
QSOX1	O00391	p.Ser493Cys	rs1406736295	missense variant	-	NC_000001.11:g.180196270A>T	TOPMed
QSOX1	O00391	p.Glu494Lys	rs1331424604	missense variant	-	NC_000001.11:g.180196273G>A	TOPMed,gnomAD
QSOX1	O00391	p.Asp495Asn	rs1404708703	missense variant	-	NC_000001.11:g.180196276G>A	gnomAD
QSOX1	O00391	p.Pro496Ser	rs745863052	missense variant	-	NC_000001.11:g.180196279C>T	ExAC,gnomAD
QSOX1	O00391	p.Val501Leu	rs1216450543	missense variant	-	NC_000001.11:g.180196294G>C	TOPMed,gnomAD
QSOX1	O00391	p.Val501Leu	rs1216450543	missense variant	-	NC_000001.11:g.180196294G>T	TOPMed,gnomAD
QSOX1	O00391	p.Trp503Cys	rs1490184654	missense variant	-	NC_000001.11:g.180196302G>T	gnomAD
QSOX1	O00391	p.Trp503Cys	rs1490184654	missense variant	-	NC_000001.11:g.180196302G>C	gnomAD
QSOX1	O00391	p.Pro505Leu	rs768732972	missense variant	-	NC_000001.11:g.180196307C>T	ExAC,gnomAD
QSOX1	O00391	p.Pro505Ser	rs1222870480	missense variant	-	NC_000001.11:g.180196306C>T	gnomAD
QSOX1	O00391	p.Arg506Gly	rs890851198	missense variant	-	NC_000001.11:g.180196309C>G	TOPMed,gnomAD
QSOX1	O00391	p.Arg506His	rs774684977	missense variant	-	NC_000001.11:g.180196310G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg506Cys	rs890851198	missense variant	-	NC_000001.11:g.180196309C>T	TOPMed,gnomAD
QSOX1	O00391	p.Leu508Phe	rs772718356	missense variant	-	NC_000001.11:g.180196315C>T	gnomAD
QSOX1	O00391	p.Cys512Tyr	rs1161011835	missense variant	-	NC_000001.11:g.180196328G>A	gnomAD
QSOX1	O00391	p.His513Arg	rs1160833411	missense variant	-	NC_000001.11:g.180196331A>G	gnomAD
QSOX1	O00391	p.His513Tyr	rs776072163	missense variant	-	NC_000001.11:g.180196330C>T	ExAC,gnomAD
QSOX1	O00391	p.His513Gln	COSM3479441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196332C>G	NCI-TCGA Cosmic
QSOX1	O00391	p.Asn514Ser	rs750506970	missense variant	-	NC_000001.11:g.180196334A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn514Asp	rs1424597642	missense variant	-	NC_000001.11:g.180196333A>G	gnomAD
QSOX1	O00391	p.Arg516Cys	rs761113490	missense variant	-	NC_000001.11:g.180196339C>T	ExAC,gnomAD
QSOX1	O00391	p.Arg516His	rs747395265	missense variant	-	NC_000001.11:g.180196340G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu517Pro	rs1050923123	missense variant	-	NC_000001.11:g.180196343T>C	TOPMed
QSOX1	O00391	p.Val519GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.180196348_180196349insGC	NCI-TCGA
QSOX1	O00391	p.Val521Leu	rs777266980	missense variant	-	NC_000001.11:g.180196354G>C	ExAC,gnomAD
QSOX1	O00391	p.Val521Met	rs777266980	missense variant	-	NC_000001.11:g.180196354G>A	ExAC,gnomAD
QSOX1	O00391	p.Val524Met	rs780683008	missense variant	-	NC_000001.11:g.180196363G>A	ExAC,gnomAD
QSOX1	O00391	p.Glu525Asp	rs141221660	missense variant	-	NC_000001.11:g.180196368A>C	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu525Gly	COSM267297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196367A>G	NCI-TCGA Cosmic
QSOX1	O00391	p.Ala526Thr	rs61734471	missense variant	-	NC_000001.11:g.180196369G>A	ExAC,gnomAD
QSOX1	O00391	p.Ala526Gly	rs369889941	missense variant	-	NC_000001.11:g.180196370C>G	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Thr527Ala	rs1448441221	missense variant	-	NC_000001.11:g.180196372A>G	TOPMed,gnomAD
QSOX1	O00391	p.Leu528Phe	rs1184703991	missense variant	-	NC_000001.11:g.180196375C>T	gnomAD
QSOX1	O00391	p.Phe530Leu	rs1164740001	missense variant	-	NC_000001.11:g.180196383C>G	gnomAD
QSOX1	O00391	p.Phe530Cys	rs1444520490	missense variant	-	NC_000001.11:g.180196382T>G	gnomAD
QSOX1	O00391	p.Leu531Phe	rs749072891	missense variant	-	NC_000001.11:g.180196384C>T	ExAC,gnomAD
QSOX1	O00391	p.Phe535Leu	rs1052719604	missense variant	-	NC_000001.11:g.180196398C>A	TOPMed,gnomAD
QSOX1	O00391	p.Ser536Phe	rs774436755	missense variant	-	NC_000001.11:g.180196400C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro537Leu	rs1480726631	missense variant	-	NC_000001.11:g.180196403C>T	TOPMed
QSOX1	O00391	p.Ser538Gly	rs748339535	missense variant	-	NC_000001.11:g.180196405A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn539Asp	rs1184587959	missense variant	-	NC_000001.11:g.180196408A>G	TOPMed
QSOX1	O00391	p.Asn539Ser	rs1485411368	missense variant	-	NC_000001.11:g.180196409A>G	TOPMed
QSOX1	O00391	p.Asn539Lys	rs772197584	missense variant	-	NC_000001.11:g.180196410C>A	ExAC,gnomAD
QSOX1	O00391	p.Ile540Val	rs1241808146	missense variant	-	NC_000001.11:g.180196411A>G	TOPMed
QSOX1	O00391	p.Asp543Gly	rs760776345	missense variant	-	NC_000001.11:g.180196421A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Phe544Leu	COSM6122962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196425C>G	NCI-TCGA Cosmic
QSOX1	O00391	p.Pro545Thr	rs1333967488	missense variant	-	NC_000001.11:g.180196426C>A	gnomAD
QSOX1	O00391	p.Ala547Val	rs766838466	missense variant	-	NC_000001.11:g.180196433C>T	ExAC,gnomAD
QSOX1	O00391	p.Gly548Val	rs1404210543	missense variant	-	NC_000001.11:g.180196436G>T	gnomAD
QSOX1	O00391	p.Ala551Pro	rs1466373593	missense variant	-	NC_000001.11:g.180196444G>C	TOPMed
QSOX1	O00391	p.Arg552Trp	rs140386908	missense variant	-	NC_000001.11:g.180196447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg552Gln	rs200810469	missense variant	-	NC_000001.11:g.180196448G>A	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Asp554Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196453G>A	NCI-TCGA
QSOX1	O00391	p.Asp554Gly	rs753004589	missense variant	-	NC_000001.11:g.180196454A>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asp554Tyr	rs372325318	missense variant	-	NC_000001.11:g.180196453G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Val555Met	rs1372325126	missense variant	-	NC_000001.11:g.180196456G>A	TOPMed
QSOX1	O00391	p.Val558Ala	rs1245502869	missense variant	-	NC_000001.11:g.180196466T>C	gnomAD
QSOX1	O00391	p.Ala559Thr	rs767298570	missense variant	-	NC_000001.11:g.180196468G>A	ExAC,gnomAD
QSOX1	O00391	p.Ala560Thr	rs749909091	missense variant	-	NC_000001.11:g.180196471G>A	ExAC,gnomAD
QSOX1	O00391	p.Ala560Asp	rs755737821	missense variant	-	NC_000001.11:g.180196472C>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala560Gly	rs755737821	missense variant	-	NC_000001.11:g.180196472C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala561Thr	rs778712755	missense variant	-	NC_000001.11:g.180196474G>A	ExAC,gnomAD
QSOX1	O00391	p.Pro562Ser	rs199773489	missense variant	-	NC_000001.11:g.180196477C>T	ExAC,gnomAD
QSOX1	O00391	p.Pro562Thr	rs199773489	missense variant	-	NC_000001.11:g.180196477C>A	ExAC,gnomAD
QSOX1	O00391	p.Ala565Val	rs772298509	missense variant	-	NC_000001.11:g.180196487C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala568Ser	rs534601334	missense variant	-	NC_000001.11:g.180196495G>T	1000Genomes,TOPMed
QSOX1	O00391	p.Glu570Val	rs377194304	missense variant	-	NC_000001.11:g.180196502A>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu572Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196507G>C	NCI-TCGA
QSOX1	O00391	p.Glu572Ala	rs139346294	missense variant	-	NC_000001.11:g.180196508A>C	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ser573Asn	rs763254777	missense variant	-	NC_000001.11:g.180196511G>A	ExAC,gnomAD
QSOX1	O00391	p.Arg574Gln	rs750160362	missense variant	-	NC_000001.11:g.180196514G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg574Trp	rs371276500	missense variant	-	NC_000001.11:g.180196513C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn575Ser	rs1251925440	missense variant	-	NC_000001.11:g.180196517A>G	TOPMed,gnomAD
QSOX1	O00391	p.Thr577Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196523C>A	NCI-TCGA
QSOX1	O00391	p.Thr577Ala	rs1421233131	missense variant	-	NC_000001.11:g.180196522A>G	gnomAD
QSOX1	O00391	p.Leu578Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196525C>A	NCI-TCGA
QSOX1	O00391	p.Leu578Pro	rs1428856833	missense variant	-	NC_000001.11:g.180196526T>C	gnomAD
QSOX1	O00391	p.Asp579Glu	rs755684560	missense variant	-	NC_000001.11:g.180196530C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asp579Gly	COSM3789179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196529A>G	NCI-TCGA Cosmic
QSOX1	O00391	p.Pro580Ser	rs368869048	missense variant	-	NC_000001.11:g.180196531C>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro583Thr	rs149764502	missense variant	-	NC_000001.11:g.180196540C>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu584Asp	rs1258347651	missense variant	-	NC_000001.11:g.180196545G>T	TOPMed
QSOX1	O00391	p.Met586Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196551G>T	NCI-TCGA
QSOX1	O00391	p.Lys587Glu	rs1461579660	missense variant	-	NC_000001.11:g.180196552A>G	gnomAD
QSOX1	O00391	p.Lys587Asn	rs1298658140	missense variant	-	NC_000001.11:g.180196554G>C	gnomAD
QSOX1	O00391	p.Pro589Ala	rs1402862279	missense variant	-	NC_000001.11:g.180196558C>G	gnomAD
QSOX1	O00391	p.Thr590Lys	rs778749101	missense variant	-	NC_000001.11:g.180196562C>A	ExAC,gnomAD
QSOX1	O00391	p.Thr590Pro	rs754895324	missense variant	-	NC_000001.11:g.180196561A>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn591His	rs3738115	missense variant	-	NC_000001.11:g.180196564A>C	UniProt,dbSNP
QSOX1	O00391	p.Asn591His	VAR_027434	missense variant	-	NC_000001.11:g.180196564A>C	UniProt
QSOX1	O00391	p.Asn591His	rs3738115	missense variant	-	NC_000001.11:g.180196564A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Asn591Asp	rs3738115	missense variant	-	NC_000001.11:g.180196564A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Thr592Ile	rs373356972	missense variant	-	NC_000001.11:g.180196568C>T	ESP,ExAC,gnomAD
QSOX1	O00391	p.Thr593Asn	rs747297302	missense variant	-	NC_000001.11:g.180196571C>A	ExAC,gnomAD
QSOX1	O00391	p.Pro594Arg	rs377701409	missense variant	-	NC_000001.11:g.180196574C>G	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro594Leu	rs377701409	missense variant	-	NC_000001.11:g.180196574C>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro594Gln	rs377701409	missense variant	-	NC_000001.11:g.180196574C>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.His595Tyr	rs745952925	missense variant	-	NC_000001.11:g.180196576C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro597Leu	rs145708234	missense variant	-	NC_000001.11:g.180196583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala598Gly	rs763365614	missense variant	-	NC_000001.11:g.180196586C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro601Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196594C>T	NCI-TCGA
QSOX1	O00391	p.Glu602Val	rs1427977648	missense variant	-	NC_000001.11:g.180196598A>T	gnomAD
QSOX1	O00391	p.Glu602Asp	rs1460301153	missense variant	-	NC_000001.11:g.180196599G>C	TOPMed
QSOX1	O00391	p.Arg605Ter	rs943829796	stop gained	-	NC_000001.11:g.180196606C>T	TOPMed
QSOX1	O00391	p.Arg605Pro	rs16855466	missense variant	-	NC_000001.11:g.180196607G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg605Gln	rs16855466	missense variant	-	NC_000001.11:g.180196607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro606Leu	rs1442514866	missense variant	-	NC_000001.11:g.180196610C>T	TOPMed
QSOX1	O00391	p.Pro607Leu	rs900708947	missense variant	-	NC_000001.11:g.180196613C>T	TOPMed,gnomAD
QSOX1	O00391	p.Lys608Thr	COSM276972	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196616A>C	NCI-TCGA Cosmic
QSOX1	O00391	p.Leu609Pro	rs576487401	missense variant	-	NC_000001.11:g.180196619T>C	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.His610Gln	rs1286734921	missense variant	-	NC_000001.11:g.180196623C>G	gnomAD
QSOX1	O00391	p.His610Tyr	rs759009358	missense variant	-	NC_000001.11:g.180196621C>T	ExAC,gnomAD
QSOX1	O00391	p.Ala615Val	rs188075416	missense variant	-	NC_000001.11:g.180196637C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala615Pro	rs765200195	missense variant	-	NC_000001.11:g.180196636G>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala616Thr	rs934609938	missense variant	-	NC_000001.11:g.180196639G>A	TOPMed
QSOX1	O00391	p.Pro617Ser	rs758183111	missense variant	-	NC_000001.11:g.180196642C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro617Ala	rs758183111	missense variant	-	NC_000001.11:g.180196642C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly618Ser	rs1178984858	missense variant	-	NC_000001.11:g.180196645G>A	gnomAD
QSOX1	O00391	p.His624Arg	rs1207786495	missense variant	-	NC_000001.11:g.180196664A>G	TOPMed
QSOX1	O00391	p.Met625Thr	rs1290648922	missense variant	-	NC_000001.11:g.180196667T>C	TOPMed
QSOX1	O00391	p.Met625Ile	rs572384509	missense variant	-	NC_000001.11:g.180196668G>A	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Ala626Thr	rs757417915	missense variant	-	NC_000001.11:g.180196669G>A	ExAC
QSOX1	O00391	p.Glu627Ter	rs541418036	stop gained	-	NC_000001.11:g.180196672G>T	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu627Val	rs561189484	missense variant	-	NC_000001.11:g.180196673A>T	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu628Phe	rs780609204	missense variant	-	NC_000001.11:g.180196675C>T	ExAC,gnomAD
QSOX1	O00391	p.Gln629His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196680G>C	NCI-TCGA
QSOX1	O00391	p.Gln629Arg	rs111896334	missense variant	-	NC_000001.11:g.180196679A>G	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu632Asp	rs374263010	missense variant	-	NC_000001.11:g.180196689G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Glu632Gly	rs1250004279	missense variant	-	NC_000001.11:g.180196688A>G	gnomAD
QSOX1	O00391	p.Pro636Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196699C>G	NCI-TCGA
QSOX1	O00391	p.Pro636Leu	rs199822437	missense variant	-	NC_000001.11:g.180196700C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Pro636Gln	rs199822437	missense variant	-	NC_000001.11:g.180196700C>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu642Phe	COSM5613838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196719G>C	NCI-TCGA Cosmic
QSOX1	O00391	p.Lys644Asn	rs1000170006	missense variant	-	NC_000001.11:g.180196725G>T	gnomAD
QSOX1	O00391	p.Arg645Gln	rs776197029	missense variant	-	NC_000001.11:g.180196727G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg645Ter	rs140786869	stop gained	-	NC_000001.11:g.180196726C>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Thr647Ala	rs1344173908	missense variant	-	NC_000001.11:g.180196732A>G	TOPMed,gnomAD
QSOX1	O00391	p.Thr647Ser	rs1344173908	missense variant	-	NC_000001.11:g.180196732A>T	TOPMed,gnomAD
QSOX1	O00391	p.Gly648Glu	rs1157050302	missense variant	-	NC_000001.11:g.180196736G>A	TOPMed
QSOX1	O00391	p.Ala650Pro	rs764718908	missense variant	-	NC_000001.11:g.180196741G>C	ExAC,gnomAD
QSOX1	O00391	p.Ala653Val	rs762819622	missense variant	-	NC_000001.11:g.180196751C>T	ExAC,gnomAD
QSOX1	O00391	p.Ala653Pro	rs199712670	missense variant	-	NC_000001.11:g.180196750G>C	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ser655Phe	rs1230322109	missense variant	-	NC_000001.11:g.180196757C>T	gnomAD
QSOX1	O00391	p.Arg656Gly	rs1489980091	missense variant	-	NC_000001.11:g.180196759A>G	TOPMed
QSOX1	O00391	p.Lys659Arg	rs751312012	missense variant	-	NC_000001.11:g.180196769A>G	ExAC,gnomAD
QSOX1	O00391	p.Lys659Asn	COSM1336787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196770G>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Arg661His	rs563293523	missense variant	-	NC_000001.11:g.180196775G>A	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg661Cys	rs1235654162	missense variant	-	NC_000001.11:g.180196774C>T	TOPMed,gnomAD
QSOX1	O00391	p.Trp663Ter	rs532331265	stop gained	-	NC_000001.11:g.180196782G>A	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Trp663Ter	rs1358068605	stop gained	-	NC_000001.11:g.180196781G>A	TOPMed
QSOX1	O00391	p.Val668Ala	rs1207012845	missense variant	-	NC_000001.11:g.180196796T>C	gnomAD
QSOX1	O00391	p.Arg670His	rs1057493686	missense variant	-	NC_000001.11:g.180196802G>A	TOPMed,gnomAD
QSOX1	O00391	p.Arg670Cys	rs749405195	missense variant	-	NC_000001.11:g.180196801C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg670Leu	rs1057493686	missense variant	-	NC_000001.11:g.180196802G>T	TOPMed,gnomAD
QSOX1	O00391	p.Val671Met	rs779603808	missense variant	-	NC_000001.11:g.180196804G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly672Asp	rs748502660	missense variant	-	NC_000001.11:g.180196808G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg673Gly	rs772379731	missense variant	-	NC_000001.11:g.180196810C>G	ExAC
QSOX1	O00391	p.Arg673His	rs144062716	missense variant	-	NC_000001.11:g.180196811G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg673Cys	rs772379731	missense variant	-	NC_000001.11:g.180196810C>T	ExAC
QSOX1	O00391	p.Ser674Arg	rs774813974	missense variant	-	NC_000001.11:g.180196815C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Lys676Arg	rs150976230	missense variant	-	NC_000001.11:g.180196820A>G	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gln677Arg	rs763985179	missense variant	-	NC_000001.11:g.180196823A>G	ExAC,gnomAD
QSOX1	O00391	p.Asp680Asn	rs1192938390	missense variant	-	NC_000001.11:g.180196831G>A	TOPMed,gnomAD
QSOX1	O00391	p.Ile681Val	rs1450841635	missense variant	-	NC_000001.11:g.180196834A>G	gnomAD
QSOX1	O00391	p.Pro682Ala	rs1393149609	missense variant	-	NC_000001.11:g.180196837C>G	TOPMed,gnomAD
QSOX1	O00391	p.Glu683Lys	rs1451124969	missense variant	-	NC_000001.11:g.180196840G>A	gnomAD
QSOX1	O00391	p.Gly684Ser	rs750248908	missense variant	-	NC_000001.11:g.180196843G>A	ExAC,gnomAD
QSOX1	O00391	p.Gly684Asp	rs756245355	missense variant	-	NC_000001.11:g.180196844G>A	ExAC,gnomAD
QSOX1	O00391	p.Gln685His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196848G>T	NCI-TCGA
QSOX1	O00391	p.Arg689Pro	rs755159325	missense variant	-	NC_000001.11:g.180196859G>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg689Gln	rs755159325	missense variant	-	NC_000001.11:g.180196859G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg689Ter	rs753939034	stop gained	-	NC_000001.11:g.180196858C>T	ExAC,gnomAD
QSOX1	O00391	p.Ala690Pro	rs1444022475	missense variant	-	NC_000001.11:g.180196861G>C	gnomAD
QSOX1	O00391	p.Ala690Gly	rs779550674	missense variant	-	NC_000001.11:g.180196862C>G	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg692Trp	rs141474961	missense variant	-	NC_000001.11:g.180196867C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg692Gln	rs758947386	missense variant	-	NC_000001.11:g.180196868G>A	ExAC,gnomAD
QSOX1	O00391	p.Gly693Cys	rs139923113	missense variant	-	NC_000001.11:g.180196870G>T	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly693Ser	rs139923113	missense variant	-	NC_000001.11:g.180196870G>A	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly693Asp	rs1283812989	missense variant	-	NC_000001.11:g.180196871G>A	TOPMed
QSOX1	O00391	p.Arg694Gln	rs768210394	missense variant	-	NC_000001.11:g.180196874G>A	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg694Ter	rs147334523	stop gained	-	NC_000001.11:g.180196873C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gln696Ter	rs1327414469	stop gained	-	NC_000001.11:g.180196879C>T	gnomAD
QSOX1	O00391	p.Val700Leu	rs767513827	missense variant	-	NC_000001.11:g.180196891G>T	ExAC,gnomAD
QSOX1	O00391	p.Val700Gly	rs1310243697	missense variant	-	NC_000001.11:g.180196892T>G	gnomAD
QSOX1	O00391	p.Val700Met	rs767513827	missense variant	-	NC_000001.11:g.180196891G>A	ExAC,gnomAD
QSOX1	O00391	p.Gly702Glu	rs760562342	missense variant	-	NC_000001.11:g.180196898G>A	ExAC,gnomAD
QSOX1	O00391	p.Gly702Ter	COSM377376	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.180196897G>T	NCI-TCGA Cosmic
QSOX1	O00391	p.Gly703Arg	rs766491497	missense variant	-	NC_000001.11:g.180196900G>A	ExAC,gnomAD
QSOX1	O00391	p.Gly703Trp	rs766491497	missense variant	-	NC_000001.11:g.180196900G>T	ExAC,gnomAD
QSOX1	O00391	p.Gly704Asp	rs1212940409	missense variant	-	NC_000001.11:g.180196904G>A	gnomAD
QSOX1	O00391	p.Gly704Val	rs1212940409	missense variant	-	NC_000001.11:g.180196904G>T	gnomAD
QSOX1	O00391	p.Ser706Phe	rs1272194311	missense variant	-	NC_000001.11:g.180196910C>T	gnomAD
QSOX1	O00391	p.Leu708Pro	rs1381863853	missense variant	-	NC_000001.11:g.180196916T>C	TOPMed
QSOX1	O00391	p.Asp709His	rs1389598074	missense variant	-	NC_000001.11:g.180196918G>C	TOPMed
QSOX1	O00391	p.Ile710Val	rs556438247	missense variant	-	NC_000001.11:g.180196921A>G	1000Genomes,ExAC,gnomAD
QSOX1	O00391	p.Ser711Gly	rs1468272104	missense variant	-	NC_000001.11:g.180196924A>G	TOPMed
QSOX1	O00391	p.Ser711Thr	rs765339427	missense variant	-	NC_000001.11:g.180196925G>C	ExAC,gnomAD
QSOX1	O00391	p.Leu712Phe	rs752834455	missense variant	-	NC_000001.11:g.180196927C>T	ExAC,gnomAD
QSOX1	O00391	p.Leu712Ile	COSM3863753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196927C>A	NCI-TCGA Cosmic
QSOX1	O00391	p.Cys713Ser	rs1166882888	missense variant	-	NC_000001.11:g.180196931G>C	gnomAD
QSOX1	O00391	p.Cys713Gly	COSM4025692	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.180196930T>G	NCI-TCGA Cosmic
QSOX1	O00391	p.Tyr717CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.180196943_180196968ATTCCCTGTCCTTCATGGGCCTGCTG>-	NCI-TCGA
QSOX1	O00391	p.Tyr717Ter	rs370692084	stop gained	-	NC_000001.11:g.180196944T>G	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ser720Phe	rs1364136640	missense variant	-	NC_000001.11:g.180196952C>T	gnomAD
QSOX1	O00391	p.Phe721Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196956C>A	NCI-TCGA
QSOX1	O00391	p.Phe721Ser	rs751838981	missense variant	-	NC_000001.11:g.180196955T>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Met722Leu	rs201396414	missense variant	-	NC_000001.11:g.180196957A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Met722Val	rs201396414	missense variant	-	NC_000001.11:g.180196957A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Met722Arg	rs749004648	missense variant	-	NC_000001.11:g.180196958T>G	ExAC,gnomAD
QSOX1	O00391	p.Ala726Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.180196970C>T	NCI-TCGA
QSOX1	O00391	p.Tyr728Cys	rs896488956	missense variant	-	NC_000001.11:g.180196976A>G	TOPMed
QSOX1	O00391	p.Thr729Ile	rs778346262	missense variant	-	NC_000001.11:g.180196979C>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Thr729Pro	rs1289553184	missense variant	-	NC_000001.11:g.180196978A>C	gnomAD
QSOX1	O00391	p.Ile735Val	rs771872847	missense variant	-	NC_000001.11:g.180196996A>G	ExAC,gnomAD
QSOX1	O00391	p.Ile735Met	rs367984649	missense variant	-	NC_000001.11:g.180196998A>G	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Arg736Ser	rs539208834	missense variant	-	NC_000001.11:g.180197001G>C	1000Genomes,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ala737Ser	rs145813833	missense variant	-	NC_000001.11:g.180197002G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Leu738Val	rs1191026986	missense variant	-	NC_000001.11:g.180197005C>G	TOPMed,gnomAD
QSOX1	O00391	p.Lys739Ter	rs776574445	stop gained	-	NC_000001.11:g.180197008A>T	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Lys739Gln	rs776574445	missense variant	-	NC_000001.11:g.180197008A>C	ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Gly740Val	rs1424415803	missense variant	-	NC_000001.11:g.180197012G>T	gnomAD
QSOX1	O00391	p.His741Arg	rs372495097	missense variant	-	NC_000001.11:g.180197015A>G	ESP,ExAC,TOPMed,gnomAD
QSOX1	O00391	p.Ter748Arg	rs1317676454	stop lost	-	NC_000001.11:g.180197035T>C	gnomAD
QSOX1	O00391	p.Ter748Ser	rs1227843278	stop lost	-	NC_000001.11:g.180197036G>C	TOPMed
AQP7	O14520	p.Val2Phe	rs1458881244	missense variant	-	NC_000009.12:g.33401259C>A	TOPMed,gnomAD
AQP7	O14520	p.Ala4Val	rs143956595	missense variant	-	NC_000009.12:g.33401252G>A	ESP,TOPMed
AQP7	O14520	p.Ser5Ala	rs763009579	missense variant	-	NC_000009.12:g.33401250A>C	ExAC,gnomAD
AQP7	O14520	p.Gly6Arg	rs148119598	missense variant	-	NC_000009.12:g.33401247C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.His7Gln	rs374964943	missense variant	-	NC_000009.12:g.33401242G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.His7Asn	rs959914653	missense variant	-	NC_000009.12:g.33401244G>T	TOPMed,gnomAD
AQP7	O14520	p.Arg8Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33401240C>T	NCI-TCGA
AQP7	O14520	p.Arg9Trp	rs143724569	missense variant	-	NC_000009.12:g.33401238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg9Gln	rs776777658	missense variant	-	NC_000009.12:g.33401237C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg9Pro	rs776777658	missense variant	-	NC_000009.12:g.33401237C>G	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Thr11Ile	rs1308054467	missense variant	-	NC_000009.12:g.33395190G>A	TOPMed
AQP7	O14520	p.Arg12Cys	rs139297434	missense variant	-	NC_000009.12:g.33395188G>A	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg12Cys	rs139297434	missense variant	-	NC_000009.12:g.33395188G>A	UniProt,dbSNP
AQP7	O14520	p.Arg12Cys	VAR_067253	missense variant	-	NC_000009.12:g.33395188G>A	UniProt
AQP7	O14520	p.Arg12His	rs777690481	missense variant	-	NC_000009.12:g.33395187C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Lys15Glu	rs758186124	missense variant	-	NC_000009.12:g.33395179T>C	ExAC,gnomAD
AQP7	O14520	p.Met16Val	rs752676074	missense variant	-	NC_000009.12:g.33395176T>C	ExAC,gnomAD
AQP7	O14520	p.Met16Thr	rs201166466	missense variant	-	NC_000009.12:g.33395175A>G	gnomAD
AQP7	O14520	p.Met16Ile	rs1421013136	missense variant	-	NC_000009.12:g.33395174C>A	gnomAD
AQP7	O14520	p.Trp19Ser	rs185204201	missense variant	-	NC_000009.12:g.33395166C>G	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Trp19Ter	rs185204201	stop gained	-	NC_000009.12:g.33395166C>T	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Trp19Ter	rs1477831537	stop gained	-	NC_000009.12:g.33395165C>T	TOPMed,gnomAD
AQP7	O14520	p.Trp19Cys	rs1477831537	missense variant	-	NC_000009.12:g.33395165C>G	TOPMed,gnomAD
AQP7	O14520	p.Val21Ala	rs1450363188	missense variant	-	NC_000009.12:g.33395160A>G	gnomAD
AQP7	O14520	p.Val21Met	rs766484596	missense variant	-	NC_000009.12:g.33395161C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ile22Val	rs760862357	missense variant	-	NC_000009.12:g.33395158T>C	ExAC,gnomAD
AQP7	O14520	p.Ile22Met	rs1206150599	missense variant	-	NC_000009.12:g.33395156T>C	TOPMed
AQP7	O14520	p.Ile22Thr	rs1317523871	missense variant	-	NC_000009.12:g.33395157A>G	gnomAD
AQP7	O14520	p.Ile25Asn	rs750700265	missense variant	-	NC_000009.12:g.33395148A>T	ExAC
AQP7	O14520	p.Gln26His	rs767860854	missense variant	-	NC_000009.12:g.33395144C>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Glu27Lys	rs145775825	missense variant	-	NC_000009.12:g.33395143C>T	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Glu27Asp	rs1232662359	missense variant	-	NC_000009.12:g.33395141T>A	gnomAD
AQP7	O14520	p.Ile28Thr	rs1341168484	missense variant	-	NC_000009.12:g.33395139A>G	gnomAD
AQP7	O14520	p.Ile28Met	rs774787164	missense variant	-	NC_000009.12:g.33395138T>C	ExAC,gnomAD
AQP7	O14520	p.Leu29Met	rs2381005	missense variant	-	NC_000009.12:g.33395137G>T	ExAC,gnomAD
AQP7	O14520	p.Leu29Pro	rs192851993	missense variant	-	NC_000009.12:g.33395136A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Leu29Val	rs2381005	missense variant	-	NC_000009.12:g.33395137G>C	ExAC,gnomAD
AQP7	O14520	p.Gln30ArgGlyArgTerUnk	rs745617679	stop gained	-	NC_000009.12:g.33395133_33395134insCATCTTCCTC	ExAC
AQP7	O14520	p.Gln30Leu	COSM6183311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33395133T>A	NCI-TCGA Cosmic
AQP7	O14520	p.Arg31Ser	rs776252656	missense variant	-	NC_000009.12:g.33395129C>G	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val34Met	rs543495409	missense variant	-	NC_000009.12:g.33395122C>T	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Val34Ala	rs2381004	missense variant	-	NC_000009.12:g.33395121A>G	ExAC,gnomAD
AQP7	O14520	p.Val34Glu	rs2381004	missense variant	-	NC_000009.12:g.33395121A>T	ExAC,gnomAD
AQP7	O14520	p.Arg35Ter	rs747841241	stop gained	-	NC_000009.12:g.33395119G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg35Gln	rs763689078	missense variant	-	NC_000009.12:g.33395118C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg35Gly	rs747841241	missense variant	-	NC_000009.12:g.33395119G>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Phe37Leu	rs1170273419	missense variant	-	NC_000009.12:g.33395113A>G	gnomAD
AQP7	O14520	p.Leu38Val	rs2381003	missense variant	-	NC_000009.12:g.33395110G>C	ExAC,gnomAD
AQP7	O14520	p.Leu38Val	rs2381003	missense variant	-	NC_000009.12:g.33395110G>C	UniProt,dbSNP
AQP7	O14520	p.Leu38Val	VAR_061343	missense variant	-	NC_000009.12:g.33395110G>C	UniProt
AQP7	O14520	p.Leu38Pro	rs780091659	missense variant	-	NC_000009.12:g.33395109A>G	ExAC,gnomAD
AQP7	O14520	p.Leu38Met	rs2381003	missense variant	-	NC_000009.12:g.33395110G>T	ExAC,gnomAD
AQP7	O14520	p.Ala39Val	rs1457558837	missense variant	-	NC_000009.12:g.33395106G>A	gnomAD
AQP7	O14520	p.Ala39Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33395107C>T	NCI-TCGA
AQP7	O14520	p.Glu40Lys	rs2381002	missense variant	-	NC_000009.12:g.33395104C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Met42Val	rs1278071704	missense variant	-	NC_000009.12:g.33395098T>C	gnomAD
AQP7	O14520	p.Met42Ile	rs558128835	missense variant	-	NC_000009.12:g.33395096C>T	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Ser43Asn	rs764563140	missense variant	-	NC_000009.12:g.33395094C>T	ExAC,gnomAD
AQP7	O14520	p.Thr44Pro	rs776199160	missense variant	-	NC_000009.12:g.33395092T>G	ExAC,gnomAD
AQP7	O14520	p.Thr44Ala	rs776199160	missense variant	-	NC_000009.12:g.33395092T>C	ExAC,gnomAD
AQP7	O14520	p.Tyr45Ter	rs760196810	stop gained	-	NC_000009.12:g.33395087A>C	ExAC,gnomAD
AQP7	O14520	p.Val46Ile	rs1333082206	missense variant	-	NC_000009.12:g.33395086C>T	gnomAD
AQP7	O14520	p.Met47Val	rs1447127817	missense variant	-	NC_000009.12:g.33395083T>C	gnomAD
AQP7	O14520	p.Met48Thr	rs1411612556	missense variant	-	NC_000009.12:g.33395079A>G	gnomAD
AQP7	O14520	p.Val49Ile	rs768771734	missense variant	-	NC_000009.12:g.33387092C>T	ExAC,gnomAD
AQP7	O14520	p.Gly51Cys	rs575153087	missense variant	-	NC_000009.12:g.33387086C>A	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly51Ser	rs575153087	missense variant	-	NC_000009.12:g.33387086C>T	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly51Val	rs756610430	missense variant	-	NC_000009.12:g.33387085C>A	ExAC,gnomAD
AQP7	O14520	p.Leu52Val	rs1196769580	missense variant	-	NC_000009.12:g.33387083G>C	TOPMed
AQP7	O14520	p.Leu52Arg	rs1267813063	missense variant	-	NC_000009.12:g.33387082A>C	TOPMed
AQP7	O14520	p.Gly53Cys	rs750945114	missense variant	-	NC_000009.12:g.33387080C>A	ExAC,gnomAD
AQP7	O14520	p.Val55Met	rs538923905	missense variant	-	NC_000009.12:g.33387074C>T	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ala56Thr	rs1263139303	missense variant	-	NC_000009.12:g.33387071C>T	gnomAD
AQP7	O14520	p.His57Arg	rs752210629	missense variant	-	NC_000009.12:g.33387067T>C	ExAC,gnomAD
AQP7	O14520	p.Met58Thr	rs764813738	missense variant	-	NC_000009.12:g.33387064A>G	ExAC,gnomAD
AQP7	O14520	p.Met58Lys	rs764813738	missense variant	-	NC_000009.12:g.33387064A>T	ExAC,gnomAD
AQP7	O14520	p.Val59Gly	rs1209613166	missense variant	-	NC_000009.12:g.33387061A>C	gnomAD
AQP7	O14520	p.Val59Leu	rs4008659	missense variant	-	NC_000009.12:g.33387062C>G	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val59Ala	rs1209613166	missense variant	-	NC_000009.12:g.33387061A>G	gnomAD
AQP7	O14520	p.Leu60Val	COSM1314772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33387059G>C	NCI-TCGA Cosmic
AQP7	O14520	p.Lys62Arg	rs753629469	missense variant	-	NC_000009.12:g.33387052T>C	ExAC,gnomAD
AQP7	O14520	p.Lys62Ter	rs1354514467	stop gained	-	NC_000009.12:g.33387053T>A	gnomAD
AQP7	O14520	p.Lys62Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33387052T>G	NCI-TCGA
AQP7	O14520	p.Lys63Thr	rs4008658	missense variant	-	NC_000009.12:g.33387049T>G	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Lys63Ter	rs766128992	stop gained	-	NC_000009.12:g.33387050T>A	ExAC
AQP7	O14520	p.Lys63Asn	COSM1108330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33387048T>G	NCI-TCGA Cosmic
AQP7	O14520	p.Tyr64Phe	rs199711780	missense variant	-	NC_000009.12:g.33387046T>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Tyr64His	rs1276354660	missense variant	-	NC_000009.12:g.33387047A>G	TOPMed,gnomAD
AQP7	O14520	p.Tyr64Ter	rs553316319	stop gained	-	NC_000009.12:g.33387045A>C	1000Genomes,ExAC,TOPMed
AQP7	O14520	p.Gly65Arg	rs368849644	missense variant	-	NC_000009.12:g.33387044C>T	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ser66Asn	rs1384802325	missense variant	-	NC_000009.12:g.33387040C>T	gnomAD
AQP7	O14520	p.Leu68Phe	rs775905309	missense variant	-	NC_000009.12:g.33387035G>A	ExAC,gnomAD
AQP7	O14520	p.Gly69Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33387032C>A	NCI-TCGA
AQP7	O14520	p.Asn71Lys	rs781616926	missense variant	-	NC_000009.12:g.33387024G>C	ExAC,gnomAD
AQP7	O14520	p.Asn71Lys	rs781616926	missense variant	-	NC_000009.12:g.33387024G>T	ExAC,gnomAD
AQP7	O14520	p.Asn71Ile	rs746373896	missense variant	-	NC_000009.12:g.33387025T>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Asn71Ser	rs746373896	missense variant	-	NC_000009.12:g.33387025T>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Leu72Trp	rs757776208	missense variant	-	NC_000009.12:g.33387022A>C	ExAC,gnomAD
AQP7	O14520	p.Gly73Ser	rs1374071314	missense variant	-	NC_000009.12:g.33387020C>T	gnomAD
AQP7	O14520	p.Gly73Asp	rs1198614474	missense variant	-	NC_000009.12:g.33387019C>T	gnomAD
AQP7	O14520	p.Gly75Val	rs140405277	missense variant	-	NC_000009.12:g.33387013C>A	ESP,ExAC,gnomAD
AQP7	O14520	p.Gly75Ser	rs747608427	missense variant	-	NC_000009.12:g.33387014C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Phe76Leu	rs146743129	missense variant	-	NC_000009.12:g.33387009G>C	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Phe76Leu	rs536416831	missense variant	-	NC_000009.12:g.33387011A>G	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Gly77Val	rs1354676296	missense variant	-	NC_000009.12:g.33387007C>A	TOPMed
AQP7	O14520	p.Gly77Arg	rs766191156	missense variant	-	NC_000009.12:g.33387008C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val78Ile	rs1270218464	missense variant	-	NC_000009.12:g.33387005C>T	gnomAD
AQP7	O14520	p.Thr79Ile	rs750256339	missense variant	-	NC_000009.12:g.33387001G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Thr79Ala	rs1215848555	missense variant	-	NC_000009.12:g.33387002T>C	gnomAD
AQP7	O14520	p.Met80Ile	rs761869327	missense variant	-	NC_000009.12:g.33386997C>T	ExAC,gnomAD
AQP7	O14520	p.Met80Thr	rs767509430	missense variant	-	NC_000009.12:g.33386998A>G	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly81Arg	rs774538753	missense variant	-	NC_000009.12:g.33386996C>T	ExAC,gnomAD
AQP7	O14520	p.Val82Gly	rs763225810	missense variant	-	NC_000009.12:g.33386992A>C	ExAC,TOPMed
AQP7	O14520	p.Val82Leu	rs764126290	missense variant	-	NC_000009.12:g.33386993C>G	ExAC,gnomAD
AQP7	O14520	p.His83Gln	rs375803801	missense variant	-	NC_000009.12:g.33386988G>T	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val84Gly	rs1182364775	missense variant	-	NC_000009.12:g.33386986A>C	TOPMed
AQP7	O14520	p.Val84Met	rs567492290	missense variant	-	NC_000009.12:g.33386987C>T	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val84Leu	rs567492290	missense variant	-	NC_000009.12:g.33386987C>A	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ala85Thr	rs1397868274	missense variant	-	NC_000009.12:g.33386984C>T	gnomAD
AQP7	O14520	p.Ala85Val	rs747557155	missense variant	-	NC_000009.12:g.33386983G>A	ExAC,gnomAD
AQP7	O14520	p.Gly86Val	rs754511517	missense variant	-	NC_000009.12:g.33386980C>A	ExAC,gnomAD
AQP7	O14520	p.Gly86Ala	rs754511517	missense variant	-	NC_000009.12:g.33386980C>G	ExAC,gnomAD
AQP7	O14520	p.Gly86Asp	rs754511517	missense variant	-	NC_000009.12:g.33386980C>T	ExAC,gnomAD
AQP7	O14520	p.Arg87His	rs371783551	missense variant	-	NC_000009.12:g.33386977C>T	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg87Cys	rs143391243	missense variant	-	NC_000009.12:g.33386978G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ile88Thr	rs569224546	missense variant	-	NC_000009.12:g.33386974A>G	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ile88Leu	rs767456180	missense variant	-	NC_000009.12:g.33386975T>G	ExAC,gnomAD
AQP7	O14520	p.Ile88Val	rs767456180	missense variant	-	NC_000009.12:g.33386975T>C	ExAC,gnomAD
AQP7	O14520	p.Ser89Tyr	rs762878686	missense variant	-	NC_000009.12:g.33386971G>T	ExAC,gnomAD
AQP7	O14520	p.Ser89Pro	rs1198707602	missense variant	-	NC_000009.12:g.33386972A>G	gnomAD
AQP7	O14520	p.Ser89Cys	rs762878686	missense variant	-	NC_000009.12:g.33386971G>C	ExAC,gnomAD
AQP7	O14520	p.Gly90Ala	rs1349541243	missense variant	-	NC_000009.12:g.33386541C>G	gnomAD
AQP7	O14520	p.Ala91Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33386538G>A	NCI-TCGA
AQP7	O14520	p.His92Arg	rs767970054	missense variant	-	NC_000009.12:g.33386535T>C	ExAC,gnomAD
AQP7	O14520	p.Met93Thr	rs1243127641	missense variant	-	NC_000009.12:g.33386532A>G	TOPMed
AQP7	O14520	p.Met93Val	rs762210355	missense variant	-	NC_000009.12:g.33386533T>C	ExAC,gnomAD
AQP7	O14520	p.Ala95Thr	rs374393354	missense variant	-	NC_000009.12:g.33386527C>T	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ala96Gly	rs1238821337	missense variant	-	NC_000009.12:g.33386523G>C	TOPMed
AQP7	O14520	p.Val97Met	rs759061075	missense variant	-	NC_000009.12:g.33386521C>T	ExAC,gnomAD
AQP7	O14520	p.Thr98Ser	rs770671678	missense variant	-	NC_000009.12:g.33386517G>C	ExAC,gnomAD
AQP7	O14520	p.Thr98Ala	rs776307581	missense variant	-	NC_000009.12:g.33386518T>C	ExAC,gnomAD
AQP7	O14520	p.Phe99Leu	rs941138025	missense variant	-	NC_000009.12:g.33386515A>G	TOPMed,gnomAD
AQP7	O14520	p.Ala100Ser	rs77962308	missense variant	-	NC_000009.12:g.33386512C>A	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Ala100Thr	rs77962308	missense variant	-	NC_000009.12:g.33386512C>T	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Cys102Tyr	rs1468629772	missense variant	-	NC_000009.12:g.33386505C>T	gnomAD
AQP7	O14520	p.Cys102Ser	rs1468629772	missense variant	-	NC_000009.12:g.33386505C>G	gnomAD
AQP7	O14520	p.Ala103Val	rs140976103	missense variant	-	NC_000009.12:g.33386502G>A	1000Genomes,ESP,TOPMed,gnomAD
AQP7	O14520	p.Ala103Thr	rs1256940846	missense variant	-	NC_000009.12:g.33386503C>T	gnomAD
AQP7	O14520	p.Gly105Val	rs1298308230	missense variant	-	NC_000009.12:g.33386496C>A	gnomAD
AQP7	O14520	p.Gly105Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33386496C>T	NCI-TCGA
AQP7	O14520	p.Arg106Cys	rs778763120	missense variant	-	NC_000009.12:g.33386494G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg106His	rs140411243	missense variant	-	NC_000009.12:g.33386493C>T	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg106Ser	rs778763120	missense variant	-	NC_000009.12:g.33386494G>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val107Leu	rs142586635	missense variant	-	NC_000009.12:g.33386491C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val107Met	rs142586635	missense variant	-	NC_000009.12:g.33386491C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val107Ala	rs1324502794	missense variant	-	NC_000009.12:g.33386490A>G	TOPMed
AQP7	O14520	p.Pro108Ala	rs750711308	missense variant	-	NC_000009.12:g.33386488G>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro108Ser	rs750711308	missense variant	-	NC_000009.12:g.33386488G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Trp109Arg	rs1241930172	missense variant	-	NC_000009.12:g.33386485A>G	gnomAD
AQP7	O14520	p.Trp109Ter	rs1181251066	stop gained	-	NC_000009.12:g.33386484C>T	TOPMed,gnomAD
AQP7	O14520	p.Arg110Gly	rs767765778	missense variant	-	NC_000009.12:g.33386482T>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg110Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33386480C>A	NCI-TCGA
AQP7	O14520	p.Pro113Leu	rs373004742	missense variant	-	NC_000009.12:g.33386472G>A	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro113Arg	rs373004742	missense variant	-	NC_000009.12:g.33386472G>C	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Tyr115His	rs74668961	missense variant	-	NC_000009.12:g.33386467A>G	ExAC,gnomAD
AQP7	O14520	p.Tyr115His	RCV000454905	missense variant	-	NC_000009.12:g.33386467A>G	ClinVar
AQP7	O14520	p.Gly118Ala	rs148428903	missense variant	-	NC_000009.12:g.33386457C>G	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly118Glu	rs148428903	missense variant	-	NC_000009.12:g.33386457C>T	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly118Arg	rs988869324	missense variant	-	NC_000009.12:g.33386458C>T	TOPMed
AQP7	O14520	p.Gln119Ter	rs747926408	stop gained	-	NC_000009.12:g.33386455G>A	ExAC,gnomAD
AQP7	O14520	p.Phe120Ser	rs1251354215	missense variant	-	NC_000009.12:g.33386451A>G	gnomAD
AQP7	O14520	p.Leu121Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33386448A>G	NCI-TCGA
AQP7	O14520	p.Gly122Asp	rs1236871781	missense variant	-	NC_000009.12:g.33386445C>T	gnomAD
AQP7	O14520	p.Leu125Pro	rs1306505924	missense variant	-	NC_000009.12:g.33386436A>G	TOPMed,gnomAD
AQP7	O14520	p.Ala126Val	rs577783586	missense variant	-	NC_000009.12:g.33386433G>A	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ala126Glu	rs577783586	missense variant	-	NC_000009.12:g.33386433G>T	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ala128Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33386427G>T	NCI-TCGA
AQP7	O14520	p.Thr129Ala	rs756281506	missense variant	-	NC_000009.12:g.33386425T>C	ExAC,gnomAD
AQP7	O14520	p.Tyr131Asp	rs1033231484	missense variant	-	NC_000009.12:g.33386419A>C	TOPMed,gnomAD
AQP7	O14520	p.Ser132Arg	rs1373479176	missense variant	-	NC_000009.12:g.33386414A>T	gnomAD
AQP7	O14520	p.Leu133Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33386413G>A	NCI-TCGA
AQP7	O14520	p.Phe134Ser	rs745937443	missense variant	-	NC_000009.12:g.33386409A>G	ExAC
AQP7	O14520	p.Thr136Met	rs199840488	missense variant	-	NC_000009.12:g.33386195G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Thr136Ala	rs978997160	missense variant	-	NC_000009.12:g.33386404T>C	TOPMed
AQP7	O14520	p.Ala137Thr	rs763685025	missense variant	-	NC_000009.12:g.33386193C>T	ExAC,gnomAD
AQP7	O14520	p.Ala137Val	rs1213358838	missense variant	-	NC_000009.12:g.33386192G>A	TOPMed,gnomAD
AQP7	O14520	p.Ala137Asp	rs1213358838	missense variant	-	NC_000009.12:g.33386192G>T	TOPMed,gnomAD
AQP7	O14520	p.Ile138Leu	rs1322003615	missense variant	-	NC_000009.12:g.33386190T>G	TOPMed
AQP7	O14520	p.Leu139Phe	rs1246565722	missense variant	-	NC_000009.12:g.33386187G>A	TOPMed
AQP7	O14520	p.His140Tyr	rs758080799	missense variant	-	NC_000009.12:g.33386184G>A	ExAC,gnomAD
AQP7	O14520	p.Ser142Leu	rs752508547	missense variant	-	NC_000009.12:g.33386177G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly143Asp	rs776499439	missense variant	-	NC_000009.12:g.33386174C>T	ExAC,gnomAD
AQP7	O14520	p.Gly143Cys	rs759504102	missense variant	-	NC_000009.12:g.33386175C>A	ExAC,gnomAD
AQP7	O14520	p.Gln145Ter	rs79172651	stop gained	-	NC_000009.12:g.33386169G>A	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gln145Glu	rs79172651	missense variant	-	NC_000009.12:g.33386169G>C	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Met147Thr	rs748367118	missense variant	-	NC_000009.12:g.33386162A>G	ExAC,gnomAD
AQP7	O14520	p.Val148Gly	rs774764353	missense variant	-	NC_000009.12:g.33386159A>C	ExAC,gnomAD
AQP7	O14520	p.Val148Ala	COSM3906902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33386159A>G	NCI-TCGA Cosmic
AQP7	O14520	p.Gly150Val	rs1396450420	missense variant	-	NC_000009.12:g.33386153C>A	TOPMed,gnomAD
AQP7	O14520	p.Gly150Asp	rs1396450420	missense variant	-	NC_000009.12:g.33386153C>T	TOPMed,gnomAD
AQP7	O14520	p.Gly150Ser	rs144445015	missense variant	-	NC_000009.12:g.33386154C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly150Cys	rs144445015	missense variant	-	NC_000009.12:g.33386154C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro151Ser	rs756634075	missense variant	-	NC_000009.12:g.33386151G>A	ExAC,gnomAD
AQP7	O14520	p.Val152Ala	rs765077284	missense variant	-	NC_000009.12:g.33386147A>G	ExAC,TOPMed
AQP7	O14520	p.Val152Phe	rs76608797	missense variant	-	NC_000009.12:g.33386148C>A	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Val152Ile	rs76608797	missense variant	-	NC_000009.12:g.33386148C>T	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Val152Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33386148C>G	NCI-TCGA
AQP7	O14520	p.Ala153Thr	rs144159502	missense variant	-	NC_000009.12:g.33386145C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ala153Val	rs766372675	missense variant	-	NC_000009.12:g.33386144G>A	ExAC,gnomAD
AQP7	O14520	p.Thr154Ile	rs760732558	missense variant	-	NC_000009.12:g.33386141G>A	ExAC,gnomAD
AQP7	O14520	p.Ile157Val	rs1355833339	missense variant	-	NC_000009.12:g.33386133T>C	gnomAD
AQP7	O14520	p.Pro163Arg	rs767762794	missense variant	-	NC_000009.12:g.33386114G>C	ExAC,gnomAD
AQP7	O14520	p.His165Asn	rs762090573	missense variant	-	NC_000009.12:g.33386109G>T	ExAC,gnomAD
AQP7	O14520	p.Met166Val	rs774369511	missense variant	-	NC_000009.12:g.33386106T>C	ExAC,gnomAD
AQP7	O14520	p.Thr167Ser	COSM3433098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33386103T>A	NCI-TCGA Cosmic
AQP7	O14520	p.Trp169Ter	rs768935081	stop gained	-	NC_000009.12:g.33386096C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg170Pro	rs201415718	missense variant	-	NC_000009.12:g.33386093C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg170Trp	rs1412196070	missense variant	-	NC_000009.12:g.33386094G>A	TOPMed,gnomAD
AQP7	O14520	p.Arg170Gln	rs201415718	missense variant	-	NC_000009.12:g.33386093C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly171Ser	rs775861945	missense variant	-	NC_000009.12:g.33386091C>T	ExAC,gnomAD
AQP7	O14520	p.Leu173Arg	rs1397156045	missense variant	-	NC_000009.12:g.33386084A>C	gnomAD
AQP7	O14520	p.Glu175Lys	rs1259886341	missense variant	-	NC_000009.12:g.33386079C>T	TOPMed
AQP7	O14520	p.Ala176Glu	rs62542746	missense variant	-	NC_000009.12:g.33385865G>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ala176Val	rs62542746	missense variant	-	NC_000009.12:g.33385865G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Trp177Ter	rs1417317866	stop gained	-	NC_000009.12:g.33385861C>T	gnomAD
AQP7	O14520	p.Trp177Ser	rs1028216797	missense variant	-	NC_000009.12:g.33385862C>G	TOPMed
AQP7	O14520	p.Leu178Pro	rs1162875098	missense variant	-	NC_000009.12:g.33385859A>G	gnomAD
AQP7	O14520	p.Thr179Ile	rs775225196	missense variant	-	NC_000009.12:g.33385856G>A	ExAC,gnomAD
AQP7	O14520	p.Gly180Arg	rs202183465	missense variant	-	NC_000009.12:g.33385854C>G	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly180Arg	rs202183465	missense variant	-	NC_000009.12:g.33385854C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Met181Leu	rs757121649	missense variant	-	NC_000009.12:g.33385851T>A	ExAC,gnomAD
AQP7	O14520	p.Met181Ile	rs747027644	missense variant	-	NC_000009.12:g.33385849C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Leu182Phe	rs1467746411	missense variant	-	NC_000009.12:g.33385848G>A	gnomAD
AQP7	O14520	p.Cys185Ter	rs374335960	stop gained	-	NC_000009.12:g.33385837A>T	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Leu186Phe	rs1236362055	missense variant	-	NC_000009.12:g.33385836G>A	gnomAD
AQP7	O14520	p.Ala188Thr	rs73478963	missense variant	-	NC_000009.12:g.33385830C>T	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ala188Pro	rs73478963	missense variant	-	NC_000009.12:g.33385830C>G	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Thr190Met	rs755227850	missense variant	-	NC_000009.12:g.33385823G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Asp191Glu	rs766822910	missense variant	-	NC_000009.12:g.33385819G>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gln192Arg	rs62542745	missense variant	-	NC_000009.12:g.33385817T>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gln192Pro	rs62542745	missense variant	-	NC_000009.12:g.33385817T>G	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Asn194Lys	rs62542744	missense variant	-	NC_000009.12:g.33385810G>T	ExAC,gnomAD
AQP7	O14520	p.Asn195His	rs904642382	missense variant	-	NC_000009.12:g.33385809T>G	TOPMed
AQP7	O14520	p.Asn195Lys	COSM3996519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385807G>T	NCI-TCGA Cosmic
AQP7	O14520	p.Pro196Thr	rs767919525	missense variant	-	NC_000009.12:g.33385806G>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro196Leu	rs1350436935	missense variant	-	NC_000009.12:g.33385805G>A	gnomAD
AQP7	O14520	p.Ala197Glu	rs762503156	missense variant	-	NC_000009.12:g.33385802G>T	ExAC,gnomAD
AQP7	O14520	p.Pro199Arg	rs549789029	missense variant	-	NC_000009.12:g.33385796G>C	1000Genomes,gnomAD
AQP7	O14520	p.Gly200Val	rs775170288	missense variant	-	NC_000009.12:g.33385793C>A	ExAC,gnomAD
AQP7	O14520	p.Gly200Glu	COSM3926700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385793C>T	NCI-TCGA Cosmic
AQP7	O14520	p.Glu202Gln	rs76908057	missense variant	-	NC_000009.12:g.33385788C>G	ExAC,gnomAD
AQP7	O14520	p.Glu202Asp	rs114937176	missense variant	-	NC_000009.12:g.33385786C>G	ExAC,gnomAD
AQP7	O14520	p.Ala203Val	rs776278674	missense variant	-	NC_000009.12:g.33385784G>A	ExAC
AQP7	O14520	p.Leu204Arg	rs1163234551	missense variant	-	NC_000009.12:g.33385781A>C	gnomAD
AQP7	O14520	p.Leu204Met	rs746785282	missense variant	-	NC_000009.12:g.33385782G>T	ExAC,gnomAD
AQP7	O14520	p.Val205Met	rs201507439	missense variant	-	NC_000009.12:g.33385779C>T	gnomAD
AQP7	O14520	p.Val205Gly	rs777708430	missense variant	-	NC_000009.12:g.33385778A>C	ExAC,gnomAD
AQP7	O14520	p.Ile206Met	rs748190708	missense variant	-	NC_000009.12:g.33385774T>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ile206Thr	rs758358831	missense variant	-	NC_000009.12:g.33385775A>G	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly207Ser	rs117663392	missense variant	-	NC_000009.12:g.33385773C>T	ExAC,gnomAD
AQP7	O14520	p.Gly207Ser	RCV000455360	missense variant	-	NC_000009.12:g.33385773C>T	ClinVar
AQP7	O14520	p.Leu209Phe	rs755176890	missense variant	-	NC_000009.12:g.33385767G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val210Leu	rs201192248	missense variant	-	NC_000009.12:g.33385764C>G	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val210Ala	rs1301481920	missense variant	-	NC_000009.12:g.33385763A>G	gnomAD
AQP7	O14520	p.Val210Met	rs201192248	missense variant	-	NC_000009.12:g.33385764C>T	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ile212Thr	rs1489175259	missense variant	-	NC_000009.12:g.33385757A>G	gnomAD
AQP7	O14520	p.Ile212Leu	rs1368420100	missense variant	-	NC_000009.12:g.33385758T>G	gnomAD
AQP7	O14520	p.Ile213Val	rs1297620069	missense variant	-	NC_000009.12:g.33385755T>C	gnomAD
AQP7	O14520	p.Gly214Arg	rs114484742	missense variant	-	NC_000009.12:g.33385752C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly214Ala	rs1169041382	missense variant	-	NC_000009.12:g.33385751C>G	gnomAD
AQP7	O14520	p.Gly214Arg	RCV000454721	missense variant	-	NC_000009.12:g.33385752C>T	ClinVar
AQP7	O14520	p.Val215Met	rs768096479	missense variant	-	NC_000009.12:g.33385749C>T	ExAC,gnomAD
AQP7	O14520	p.Val215Leu	rs768096479	missense variant	-	NC_000009.12:g.33385749C>A	ExAC,gnomAD
AQP7	O14520	p.Ser216Tyr	rs199936776	missense variant	-	NC_000009.12:g.33385745G>T	ExAC,gnomAD
AQP7	O14520	p.Leu217His	rs201773300	missense variant	-	NC_000009.12:g.33385742A>T	ExAC,gnomAD
AQP7	O14520	p.Leu217His	RCV000456083	missense variant	-	NC_000009.12:g.33385742A>T	ClinVar
AQP7	O14520	p.Gly218Val	rs1174969247	missense variant	-	NC_000009.12:g.33385739C>A	gnomAD
AQP7	O14520	p.Met219Ile	rs201117022	missense variant	-	NC_000009.12:g.33385735C>T	ExAC,gnomAD
AQP7	O14520	p.Gly222Arg	rs1169866396	missense variant	-	NC_000009.12:g.33385728C>T	TOPMed
AQP7	O14520	p.Ala224Ser	rs776281487	missense variant	-	NC_000009.12:g.33385722C>A	ExAC
AQP7	O14520	p.Ala224Val	rs770503247	missense variant	-	NC_000009.12:g.33385721G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ala224Asp	rs770503247	missense variant	-	NC_000009.12:g.33385721G>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Asn226Ser	rs760474263	missense variant	-	NC_000009.12:g.33385715T>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Asn226Thr	rs760474263	missense variant	-	NC_000009.12:g.33385715T>G	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro227Leu	rs138290992	missense variant	-	NC_000009.12:g.33385712G>A	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ser228Phe	rs377195045	missense variant	-	NC_000009.12:g.33385709G>A	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg229Leu	rs373501318	missense variant	-	NC_000009.12:g.33385706C>A	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg229Trp	rs780270047	missense variant	-	NC_000009.12:g.33385707G>A	ExAC,gnomAD
AQP7	O14520	p.Arg229Gln	rs373501318	missense variant	-	NC_000009.12:g.33385706C>T	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Asp230Glu	rs757823924	missense variant	-	NC_000009.12:g.33385702G>T	ExAC,gnomAD
AQP7	O14520	p.Asp230Asn	rs559393989	missense variant	-	NC_000009.12:g.33385704C>T	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Asp230Gly	COSM2150028	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385703T>C	NCI-TCGA Cosmic
AQP7	O14520	p.Leu231Pro	rs145516206	missense variant	-	NC_000009.12:g.33385700A>G	ExAC,gnomAD
AQP7	O14520	p.Leu231Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385701G>T	NCI-TCGA
AQP7	O14520	p.Pro232Thr	rs759029108	missense variant	-	NC_000009.12:g.33385698G>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro232Leu	rs753311168	missense variant	-	NC_000009.12:g.33385697G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro232His	rs753311168	missense variant	-	NC_000009.12:g.33385697G>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro233Leu	rs766018958	missense variant	-	NC_000009.12:g.33385694G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro233Arg	rs766018958	missense variant	-	NC_000009.12:g.33385694G>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg234Gly	rs139024279	missense variant	-	NC_000009.12:g.33385692G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg234Ser	rs139024279	missense variant	-	NC_000009.12:g.33385692G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg234His	rs369644615	missense variant	-	NC_000009.12:g.33385691C>T	1000Genomes,ESP,ExAC,TOPMed
AQP7	O14520	p.Arg234Ser	RCV000455403	missense variant	-	NC_000009.12:g.33385692G>T	ClinVar
AQP7	O14520	p.Arg234Cys	rs139024279	missense variant	-	NC_000009.12:g.33385692G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ile235Val	rs768599373	missense variant	-	NC_000009.12:g.33385689T>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ile235Asn	rs1423757766	missense variant	-	NC_000009.12:g.33385688A>T	TOPMed
AQP7	O14520	p.Ile235Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385687G>C	NCI-TCGA
AQP7	O14520	p.Ile235Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385689T>G	NCI-TCGA
AQP7	O14520	p.Ile235Phe	rs768599373	missense variant	-	NC_000009.12:g.33385689T>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Thr237Ile	rs1202534815	missense variant	-	NC_000009.12:g.33385682G>A	gnomAD
AQP7	O14520	p.Thr237Ser	rs1255848704	missense variant	-	NC_000009.12:g.33385683T>A	gnomAD
AQP7	O14520	p.Ala240Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385674C>T	NCI-TCGA
AQP7	O14520	p.Gly241Asp	rs543757751	missense variant	-	NC_000009.12:g.33385670C>T	1000Genomes
AQP7	O14520	p.Gly241Ser	rs770033710	missense variant	-	NC_000009.12:g.33385671C>T	ExAC,gnomAD
AQP7	O14520	p.Gly243Ser	rs1331348216	missense variant	-	NC_000009.12:g.33385665C>T	TOPMed,gnomAD
AQP7	O14520	p.Gly243Asp	rs781688387	missense variant	-	NC_000009.12:g.33385664C>T	ExAC,gnomAD
AQP7	O14520	p.Gln245Leu	rs751986180	missense variant	-	NC_000009.12:g.33385658T>A	ExAC,gnomAD
AQP7	O14520	p.Gln245His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385657C>A	NCI-TCGA
AQP7	O14520	p.Val246Ile	rs778376340	missense variant	-	NC_000009.12:g.33385656C>T	ExAC,gnomAD
AQP7	O14520	p.Phe247Cys	rs758864520	missense variant	-	NC_000009.12:g.33385652A>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Phe247Ser	rs758864520	missense variant	-	NC_000009.12:g.33385652A>G	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ser248Ile	rs753362587	missense variant	-	NC_000009.12:g.33385649C>A	ExAC
AQP7	O14520	p.Asn249Asp	rs74557595	missense variant	-	NC_000009.12:g.33385289T>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly250Arg	rs760977156	missense variant	-	NC_000009.12:g.33385286C>T	ExAC,gnomAD
AQP7	O14520	p.Gly250Glu	rs773244652	missense variant	-	NC_000009.12:g.33385285C>T	ExAC,gnomAD
AQP7	O14520	p.Asn252Lys	rs375356467	missense variant	-	NC_000009.12:g.33385278G>T	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Trp253Leu	rs769128601	missense variant	-	NC_000009.12:g.33385276C>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Trp253Ter	rs769128601	stop gained	-	NC_000009.12:g.33385276C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Trp254Ter	rs749852149	stop gained	-	NC_000009.12:g.33385273C>T	ExAC,gnomAD
AQP7	O14520	p.Ala260Val	rs780673396	missense variant	-	NC_000009.12:g.33385255G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Leu262Ile	rs770359710	missense variant	-	NC_000009.12:g.33385250G>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly264Ser	rs184118433	missense variant	-	NC_000009.12:g.33385244C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly264Val	rs62542743	missense variant	-	NC_000009.12:g.33385243C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly264Val	rs62542743	missense variant	-	NC_000009.12:g.33385243C>A	UniProt,dbSNP
AQP7	O14520	p.Gly264Val	VAR_067255	missense variant	-	NC_000009.12:g.33385243C>A	UniProt
AQP7	O14520	p.Gly264Val	RCV000023224	missense variant	Glycerol release during exercise, defective (GLYCQTL)	NC_000009.12:g.33385243C>A	ClinVar
AQP7	O14520	p.Tyr266Ter	rs1443836887	stop gained	-	NC_000009.12:g.33385236A>T	gnomAD
AQP7	O14520	p.Tyr266Phe	rs202043723	missense variant	-	NC_000009.12:g.33385237T>A	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Tyr266Ser	rs202043723	missense variant	-	NC_000009.12:g.33385237T>G	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Leu267Ile	COSM1108328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385235G>T	NCI-TCGA Cosmic
AQP7	O14520	p.Gly268Val	rs561584740	missense variant	-	NC_000009.12:g.33385231C>A	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Gly268Asp	rs561584740	missense variant	-	NC_000009.12:g.33385231C>T	1000Genomes,ExAC,gnomAD
AQP7	O14520	p.Gly269Ser	rs753896238	missense variant	-	NC_000009.12:g.33385229C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly269Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385228C>T	NCI-TCGA
AQP7	O14520	p.Gly269Cys	rs753896238	missense variant	-	NC_000009.12:g.33385229C>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val274Ile	rs1289616046	missense variant	-	NC_000009.12:g.33385214C>T	gnomAD
AQP7	O14520	p.Val274Leu	rs1289616046	missense variant	-	NC_000009.12:g.33385214C>G	gnomAD
AQP7	O14520	p.Ile276Thr	rs1376273760	missense variant	-	NC_000009.12:g.33385207A>G	TOPMed
AQP7	O14520	p.Gly277Cys	rs766426189	missense variant	-	NC_000009.12:g.33385205C>A	ExAC,gnomAD
AQP7	O14520	p.Gly277Asp	rs760785390	missense variant	-	NC_000009.12:g.33385204C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ser278Pro	rs370340757	missense variant	-	NC_000009.12:g.33385202A>G	ESP
AQP7	O14520	p.Thr279Ile	rs190625868	missense variant	-	NC_000009.12:g.33385198G>A	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ile280Met	rs1446242768	missense variant	-	NC_000009.12:g.33385194G>C	gnomAD
AQP7	O14520	p.Arg282Gln	rs774564666	missense variant	-	NC_000009.12:g.33385189C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Arg282Trp	rs768393072	missense variant	-	NC_000009.12:g.33385190G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro284Ala	rs763311844	missense variant	-	NC_000009.12:g.33385184G>C	ExAC,gnomAD
AQP7	O14520	p.Leu285Pro	rs202003063	missense variant	-	NC_000009.12:g.33385180A>G	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Lys286Thr	rs770308564	missense variant	-	NC_000009.12:g.33385177T>G	ExAC,gnomAD
AQP7	O14520	p.Glu288Asp	rs1219152528	missense variant	-	NC_000009.12:g.33385170C>A	TOPMed
AQP7	O14520	p.Asp289Ala	rs1179941138	missense variant	-	NC_000009.12:g.33385168T>G	gnomAD
AQP7	O14520	p.Ser290Tyr	rs1237788650	missense variant	-	NC_000009.12:g.33385165G>T	gnomAD
AQP7	O14520	p.Ala292Val	rs201527236	missense variant	-	NC_000009.12:g.33385159G>A	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.His296Arg	rs376205588	missense variant	-	NC_000009.12:g.33385147T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Gly297Arg	rs749112658	missense variant	-	NC_000009.12:g.33385145C>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ile298Val	rs780095371	missense variant	-	NC_000009.12:g.33385142T>C	ExAC,gnomAD
AQP7	O14520	p.Thr299Ala	rs1430363924	missense variant	-	NC_000009.12:g.33385139T>C	gnomAD
AQP7	O14520	p.Val300Ile	rs61073250	missense variant	-	NC_000009.12:g.33385136C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Val300Ala	rs1432944647	missense variant	-	NC_000009.12:g.33385135A>G	TOPMed
AQP7	O14520	p.Pro302Leu	rs767693529	missense variant	-	NC_000009.12:g.33385129G>A	ExAC,gnomAD
AQP7	O14520	p.Lys303Glu	rs757414925	missense variant	-	NC_000009.12:g.33385127T>C	ExAC,gnomAD
AQP7	O14520	p.Lys303Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385125C>G	NCI-TCGA
AQP7	O14520	p.Met304Leu	rs751738116	missense variant	-	NC_000009.12:g.33385124T>A	ExAC,gnomAD
AQP7	O14520	p.Met304Ile	rs371523158	missense variant	-	NC_000009.12:g.33385122C>T	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Met304Lys	rs764313048	missense variant	-	NC_000009.12:g.33385123A>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ser306Cys	rs1249475411	missense variant	-	NC_000009.12:g.33385117G>C	gnomAD
AQP7	O14520	p.Ser306Thr	rs1447342994	missense variant	-	NC_000009.12:g.33385118A>T	TOPMed,gnomAD
AQP7	O14520	p.Glu308Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385112C>T	NCI-TCGA
AQP7	O14520	p.Thr310Met	rs541770524	missense variant	-	NC_000009.12:g.33385105G>A	1000Genomes,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Ser312Phe	COSM6183316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385099G>A	NCI-TCGA Cosmic
AQP7	O14520	p.Thr315Ile	rs772587113	missense variant	-	NC_000009.12:g.33385090G>A	ExAC,TOPMed
AQP7	O14520	p.Pro316Ser	rs1291113394	missense variant	-	NC_000009.12:g.33385088G>A	TOPMed,gnomAD
AQP7	O14520	p.Pro316Leu	rs771682923	missense variant	-	NC_000009.12:g.33385087G>A	ExAC,gnomAD
AQP7	O14520	p.Val317Ile	rs199594532	missense variant	-	NC_000009.12:g.33385085C>T	1000Genomes,TOPMed,gnomAD
AQP7	O14520	p.Val319Gly	rs1436024401	missense variant	-	NC_000009.12:g.33385078A>C	gnomAD
AQP7	O14520	p.Pro321Leu	rs201424877	missense variant	-	NC_000009.12:g.33385072G>A	ExAC,gnomAD
AQP7	O14520	p.Pro321Ser	rs749056562	missense variant	-	NC_000009.12:g.33385073G>A	ExAC,gnomAD
AQP7	O14520	p.Ala322Val	rs755989154	missense variant	-	NC_000009.12:g.33385069G>A	ExAC,gnomAD
AQP7	O14520	p.Ser326Leu	rs745882902	missense variant	-	NC_000009.12:g.33385057G>A	ExAC,gnomAD
AQP7	O14520	p.His328Gln	rs1245079837	missense variant	-	NC_000009.12:g.33385050G>T	TOPMed
AQP7	O14520	p.Pro329Ser	rs78431873	missense variant	-	NC_000009.12:g.33385049G>A	ExAC,gnomAD
AQP7	O14520	p.Pro329Arg	rs1168854859	missense variant	-	NC_000009.12:g.33385048G>C	gnomAD
AQP7	O14520	p.Ala330Asp	rs1264739226	missense variant	-	NC_000009.12:g.33385045G>T	gnomAD
AQP7	O14520	p.Ala330Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385046C>T	NCI-TCGA
AQP7	O14520	p.Pro331Ser	rs1192417714	missense variant	-	NC_000009.12:g.33385043G>A	TOPMed,gnomAD
AQP7	O14520	p.Pro331Leu	rs199871527	missense variant	-	NC_000009.12:g.33385042G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro331Arg	rs199871527	missense variant	-	NC_000009.12:g.33385042G>C	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro332Ser	rs1438298065	missense variant	-	NC_000009.12:g.33385040G>A	TOPMed
AQP7	O14520	p.Pro332Leu	rs758660571	missense variant	-	NC_000009.12:g.33385039G>A	ExAC,TOPMed,gnomAD
AQP7	O14520	p.Pro332Ala	COSM3906898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385040G>C	NCI-TCGA Cosmic
AQP7	O14520	p.Pro332His	rs758660571	missense variant	-	NC_000009.12:g.33385039G>T	ExAC,TOPMed,gnomAD
AQP7	O14520	p.His334Arg	rs1205026401	missense variant	-	NC_000009.12:g.33385033T>C	gnomAD
AQP7	O14520	p.Glu335Ter	COSM4844937	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.33385031C>A	NCI-TCGA Cosmic
AQP7	O14520	p.Ser336Phe	COSM3656930	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385027G>A	NCI-TCGA Cosmic
AQP7	O14520	p.Met337Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.33385025T>C	NCI-TCGA
AQP7	O14520	p.Ala338Ser	rs958540175	missense variant	-	NC_000009.12:g.33385022C>A	TOPMed
AQP7	O14520	p.Ala338Val	rs368432936	missense variant	-	NC_000009.12:g.33385021G>A	ESP,ExAC,TOPMed,gnomAD
AQP7	O14520	p.Leu339Pro	rs1229416384	missense variant	-	NC_000009.12:g.33385018A>G	gnomAD
AQP7	O14520	p.Glu340Gln	rs1299353226	missense variant	-	NC_000009.12:g.33385016C>G	gnomAD
AQP7	O14520	p.Ter343Glu	rs766813164	stop lost	-	NC_000009.12:g.33385007A>C	ExAC,gnomAD
DVL2	O14641	p.Ala2Glu	rs1337233293	missense variant	-	NC_000017.11:g.7234258G>T	gnomAD
DVL2	O14641	p.Gly3Cys	rs748460248	missense variant	-	NC_000017.11:g.7234256C>A	ExAC,gnomAD
DVL2	O14641	p.Gly3Val	rs768855231	missense variant	-	NC_000017.11:g.7234255C>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly3Asp	rs768855231	missense variant	-	NC_000017.11:g.7234255C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly3Ala	rs768855231	missense variant	-	NC_000017.11:g.7234255C>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser4Cys	rs1314140315	missense variant	-	NC_000017.11:g.7234253T>A	gnomAD
DVL2	O14641	p.Ser4Thr	rs1432813408	missense variant	-	NC_000017.11:g.7234252C>G	gnomAD
DVL2	O14641	p.Thr6Ala	rs886830386	missense variant	-	NC_000017.11:g.7234247T>C	TOPMed
DVL2	O14641	p.Gly7Trp	rs1047268927	missense variant	-	NC_000017.11:g.7234244C>A	TOPMed
DVL2	O14641	p.Gly8Ser	rs757300697	missense variant	-	NC_000017.11:g.7234241C>T	ExAC,gnomAD
DVL2	O14641	p.Gly9Ser	rs777685857	missense variant	-	NC_000017.11:g.7234238C>T	ExAC,gnomAD
DVL2	O14641	p.Gly10Glu	rs752473480	missense variant	-	NC_000017.11:g.7234234C>T	ExAC,gnomAD
DVL2	O14641	p.Val11Phe	rs767091471	missense variant	-	NC_000017.11:g.7234232C>A	ExAC,gnomAD
DVL2	O14641	p.Val11Gly	rs754572995	missense variant	-	NC_000017.11:g.7234231A>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val11Ala	rs754572995	missense variant	-	NC_000017.11:g.7234231A>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly12Glu	rs1185832424	missense variant	-	NC_000017.11:g.7234228C>T	gnomAD
DVL2	O14641	p.Gly12Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7234228C>A	NCI-TCGA
DVL2	O14641	p.Glu13Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7234224C>A	NCI-TCGA
DVL2	O14641	p.Lys15Arg	rs1285573350	missense variant	-	NC_000017.11:g.7234219T>C	gnomAD
DVL2	O14641	p.Val16Met	rs765841121	missense variant	-	NC_000017.11:g.7234217C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp21Tyr	rs763284855	missense variant	-	NC_000017.11:g.7234202C>A	TOPMed,gnomAD
DVL2	O14641	p.Asp21Glu	rs773578457	missense variant	-	NC_000017.11:g.7234200A>C	ExAC,gnomAD
DVL2	O14641	p.Asp21Val	rs1297948842	missense variant	-	NC_000017.11:g.7234201T>A	TOPMed
DVL2	O14641	p.Asp21His	rs763284855	missense variant	-	NC_000017.11:g.7234202C>G	TOPMed,gnomAD
DVL2	O14641	p.Glu22Lys	rs1412344911	missense variant	-	NC_000017.11:g.7234199C>T	gnomAD
DVL2	O14641	p.Glu23Gly	rs1318871106	missense variant	-	NC_000017.11:g.7234195T>C	gnomAD
DVL2	O14641	p.Glu23Lys	rs765699246	missense variant	-	NC_000017.11:g.7234196C>T	ExAC,gnomAD
DVL2	O14641	p.Glu24Asp	rs776994069	missense variant	-	NC_000017.11:g.7234191C>G	ExAC,gnomAD
DVL2	O14641	p.Glu24Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7234191C>A	NCI-TCGA
DVL2	O14641	p.Glu24Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7234193C>G	NCI-TCGA
DVL2	O14641	p.Pro26Leu	rs983186756	missense variant	-	NC_000017.11:g.7234186G>A	TOPMed
DVL2	O14641	p.Tyr27His	rs1462184716	missense variant	-	NC_000017.11:g.7234184A>G	gnomAD
DVL2	O14641	p.Tyr27Cys	rs747204709	missense variant	-	NC_000017.11:g.7234183T>C	ExAC,gnomAD
DVL2	O14641	p.Leu28Val	rs772266124	missense variant	-	NC_000017.11:g.7234181G>C	ExAC,gnomAD
DVL2	O14641	p.Ile31Met	rs749308726	missense variant	-	NC_000017.11:g.7234170G>C	ExAC,gnomAD
DVL2	O14641	p.Pro32Ser	rs930397233	missense variant	-	NC_000017.11:g.7234169G>A	TOPMed,gnomAD
DVL2	O14641	p.Pro32Leu	rs1195960792	missense variant	-	NC_000017.11:g.7234168G>A	gnomAD
DVL2	O14641	p.Glu36Gln	rs139256869	missense variant	-	NC_000017.11:g.7234157C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg37Leu	COSM6148076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7234153C>A	NCI-TCGA Cosmic
DVL2	O14641	p.Leu40Phe	rs747920943	missense variant	-	NC_000017.11:g.7234145G>A	ExAC,gnomAD
DVL2	O14641	p.Asp42Asn	rs754662745	missense variant	-	NC_000017.11:g.7234139C>T	ExAC,gnomAD
DVL2	O14641	p.Phe43Leu	rs911793509	missense variant	-	NC_000017.11:g.7234134G>C	TOPMed,gnomAD
DVL2	O14641	p.Lys44Arg	rs751187480	missense variant	-	NC_000017.11:g.7234132T>C	ExAC,gnomAD
DVL2	O14641	p.Gln48His	rs779593062	missense variant	-	NC_000017.11:g.7234119C>A	ExAC,gnomAD
DVL2	O14641	p.Arg49Leu	rs1441322786	missense variant	-	NC_000017.11:g.7234117C>A	TOPMed,gnomAD
DVL2	O14641	p.Arg49Gln	rs1441322786	missense variant	-	NC_000017.11:g.7234117C>T	TOPMed,gnomAD
DVL2	O14641	p.Arg49Trp	rs757899070	missense variant	-	NC_000017.11:g.7234118G>A	ExAC,gnomAD
DVL2	O14641	p.Ala51Val	rs1425940777	missense variant	-	NC_000017.11:g.7234111G>A	TOPMed
DVL2	O14641	p.Ala51Pro	rs913277429	missense variant	-	NC_000017.11:g.7234112C>G	TOPMed
DVL2	O14641	p.Gly52Ser	rs765675161	missense variant	-	NC_000017.11:g.7234109C>T	ExAC,gnomAD
DVL2	O14641	p.Ala53Thr	rs1169678933	missense variant	-	NC_000017.11:g.7234106C>T	gnomAD
DVL2	O14641	p.Ala53Gly	rs149736410	missense variant	-	NC_000017.11:g.7234105G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ala53Val	rs149736410	missense variant	-	NC_000017.11:g.7234105G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Lys54Gln	rs761035601	missense variant	-	NC_000017.11:g.7234103T>G	ExAC,gnomAD
DVL2	O14641	p.Lys54Thr	rs1470094862	missense variant	-	NC_000017.11:g.7234102T>G	gnomAD
DVL2	O14641	p.Tyr55Ter	rs775855221	stop gained	-	NC_000017.11:g.7234098G>C	ExAC,gnomAD
DVL2	O14641	p.Phe57SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7234093A>-	NCI-TCGA
DVL2	O14641	p.Met60Val	rs139652472	missense variant	-	NC_000017.11:g.7234085T>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Met60Thr	rs759551403	missense variant	-	NC_000017.11:g.7234084A>G	ExAC,gnomAD
DVL2	O14641	p.Asp61Asn	COSM983863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7234082C>T	NCI-TCGA Cosmic
DVL2	O14641	p.Val66Met	rs1462629707	missense variant	-	NC_000017.11:g.7230796C>T	TOPMed,gnomAD
DVL2	O14641	p.Val66Gly	rs756728574	missense variant	-	NC_000017.11:g.7230795A>C	ExAC,gnomAD
DVL2	O14641	p.Lys68Arg	rs1317930532	missense variant	-	NC_000017.11:g.7230789T>C	TOPMed
DVL2	O14641	p.Glu69Asp	COSM983849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7230785T>G	NCI-TCGA Cosmic
DVL2	O14641	p.Glu69Lys	rs945313962	missense variant	-	NC_000017.11:g.7230787C>T	gnomAD
DVL2	O14641	p.Glu70Asp	rs755362094	missense variant	-	NC_000017.11:g.7230782T>G	ExAC,gnomAD
DVL2	O14641	p.Asp73Gly	rs1215823324	missense variant	-	NC_000017.11:g.7230774T>C	gnomAD
DVL2	O14641	p.Ala76Asp	rs1264988936	missense variant	-	NC_000017.11:g.7230765G>T	gnomAD
DVL2	O14641	p.Ala76Thr	rs1282730801	missense variant	-	NC_000017.11:g.7230766C>T	TOPMed,gnomAD
DVL2	O14641	p.Arg77His	rs143043931	missense variant	-	NC_000017.11:g.7230762C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg77Cys	rs758501117	missense variant	-	NC_000017.11:g.7230763G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro79Leu	COSM6081581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7230756G>A	NCI-TCGA Cosmic
DVL2	O14641	p.Gly83Arg	rs767291565	missense variant	-	NC_000017.11:g.7230745C>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly83Arg	rs767291565	missense variant	-	NC_000017.11:g.7230745C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg84Ser	rs1343726628	missense variant	-	NC_000017.11:g.7230740C>A	TOPMed
DVL2	O14641	p.Val85Leu	rs1306028020	missense variant	-	NC_000017.11:g.7230739C>A	gnomAD
DVL2	O14641	p.Ser87Phe	rs1467639055	missense variant	-	NC_000017.11:g.7230732G>A	TOPMed
DVL2	O14641	p.Leu89HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7230429_7230430insTCCTTCCAGT	NCI-TCGA
DVL2	O14641	p.Val90Met	rs564573436	missense variant	-	NC_000017.11:g.7230427C>T	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val90Leu	rs564573436	missense variant	-	NC_000017.11:g.7230427C>G	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val90Leu	rs564573436	missense variant	-	NC_000017.11:g.7230427C>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser91Phe	rs139045197	missense variant	-	NC_000017.11:g.7230423G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser91Tyr	rs139045197	missense variant	-	NC_000017.11:g.7230423G>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp93Gly	rs936419179	missense variant	-	NC_000017.11:g.7230417T>C	TOPMed
DVL2	O14641	p.Pro95Arg	rs772992689	missense variant	-	NC_000017.11:g.7230411G>C	ExAC,gnomAD
DVL2	O14641	p.Pro97Arg	rs1181517729	missense variant	-	NC_000017.11:g.7230405G>C	TOPMed,gnomAD
DVL2	O14641	p.Pro97His	rs1181517729	missense variant	-	NC_000017.11:g.7230405G>T	TOPMed,gnomAD
DVL2	O14641	p.Pro97Ser	rs376639739	missense variant	-	NC_000017.11:g.7230406G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu98Lys	rs775954963	missense variant	-	NC_000017.11:g.7230403C>T	ExAC,gnomAD
DVL2	O14641	p.Glu98Ala	rs1199153671	missense variant	-	NC_000017.11:g.7230402T>G	gnomAD
DVL2	O14641	p.Met99Thr	rs769237336	missense variant	-	NC_000017.11:g.7230399A>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Met99Lys	rs769237336	missense variant	-	NC_000017.11:g.7230399A>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ala100Pro	rs949510439	missense variant	-	NC_000017.11:g.7230397C>G	TOPMed,gnomAD
DVL2	O14641	p.Pro101Ser	rs1261612115	missense variant	-	NC_000017.11:g.7230394G>A	gnomAD
DVL2	O14641	p.Pro102Leu	rs747441206	missense variant	-	NC_000017.11:g.7230390G>A	ExAC,gnomAD
DVL2	O14641	p.Glu105Ala	rs780515259	missense variant	-	NC_000017.11:g.7230381T>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro106Ala	rs1408686483	missense variant	-	NC_000017.11:g.7230379G>C	gnomAD
DVL2	O14641	p.Arg107Gln	rs962242250	missense variant	-	NC_000017.11:g.7230375C>T	gnomAD
DVL2	O14641	p.Arg107Trp	rs772423522	missense variant	-	NC_000017.11:g.7230376G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ala108Glu	rs1357342185	missense variant	-	NC_000017.11:g.7230372G>T	TOPMed
DVL2	O14641	p.Ala108Thr	rs746167226	missense variant	-	NC_000017.11:g.7230373C>T	ExAC,gnomAD
DVL2	O14641	p.Ala108Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7230372G>A	NCI-TCGA
DVL2	O14641	p.Glu109Ala	rs541691960	missense variant	-	NC_000017.11:g.7230369T>G	1000Genomes,ExAC,gnomAD
DVL2	O14641	p.Ala111Pro	rs572686087	missense variant	-	NC_000017.11:g.7230364C>G	1000Genomes,ExAC,gnomAD
DVL2	O14641	p.Ala111Thr	rs572686087	missense variant	-	NC_000017.11:g.7230364C>T	1000Genomes,ExAC,gnomAD
DVL2	O14641	p.Ala111Val	rs371764720	missense variant	-	NC_000017.11:g.7230363G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ala114Val	rs367665319	missense variant	-	NC_000017.11:g.7230354G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro116Leu	rs1446493028	missense variant	-	NC_000017.11:g.7230348G>A	TOPMed
DVL2	O14641	p.Pro118Leu	rs1357471224	missense variant	-	NC_000017.11:g.7230342G>A	gnomAD
DVL2	O14641	p.Pro119Leu	rs374951296	missense variant	-	NC_000017.11:g.7230339G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro119Arg	rs374951296	missense variant	-	NC_000017.11:g.7230339G>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro122Leu	rs1260206520	missense variant	-	NC_000017.11:g.7230330G>A	TOPMed
DVL2	O14641	p.Glu123Lys	rs761312377	missense variant	-	NC_000017.11:g.7230328C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr125Ile	rs772512773	missense variant	-	NC_000017.11:g.7230321G>A	ExAC,gnomAD
DVL2	O14641	p.Thr125Pro	rs775865389	missense variant	-	NC_000017.11:g.7230322T>G	ExAC,gnomAD
DVL2	O14641	p.Ser126Ile	rs1334926130	missense variant	-	NC_000017.11:g.7230318C>A	gnomAD
DVL2	O14641	p.Gly127Asp	rs1385306342	missense variant	-	NC_000017.11:g.7230315C>T	TOPMed
DVL2	O14641	p.Gly127Ser	rs148130258	missense variant	-	NC_000017.11:g.7230316C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ile128Thr	rs771185372	missense variant	-	NC_000017.11:g.7230312A>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly129Glu	rs370365396	missense variant	-	NC_000017.11:g.7230309C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly129Ala	rs370365396	missense variant	-	NC_000017.11:g.7230309C>G	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp130Gly	rs368505041	missense variant	-	NC_000017.11:g.7230306T>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp130Asn	rs1376778076	missense variant	-	NC_000017.11:g.7230307C>T	TOPMed
DVL2	O14641	p.Ser131Pro	rs965108461	missense variant	-	NC_000017.11:g.7230304A>G	gnomAD
DVL2	O14641	p.Pro133Arg	rs748188334	missense variant	-	NC_000017.11:g.7230297G>C	ExAC,gnomAD
DVL2	O14641	p.Pro134Ser	rs780150593	missense variant	-	NC_000017.11:g.7230295G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro134Leu	rs758359254	missense variant	-	NC_000017.11:g.7230294G>A	ExAC,gnomAD
DVL2	O14641	p.Phe136Ser	rs1374139285	missense variant	-	NC_000017.11:g.7230288A>G	gnomAD
DVL2	O14641	p.Phe136Leu	rs765091992	missense variant	-	NC_000017.11:g.7230289A>G	ExAC,gnomAD
DVL2	O14641	p.His137Tyr	rs557081344	missense variant	-	NC_000017.11:g.7230286G>A	1000Genomes,ExAC,gnomAD
DVL2	O14641	p.Pro138Arg	rs954292534	missense variant	-	NC_000017.11:g.7230153G>C	TOPMed,gnomAD
DVL2	O14641	p.Asn139Asp	rs760097668	missense variant	-	NC_000017.11:g.7230151T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser141Tyr	COSM4069213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7230144G>T	NCI-TCGA Cosmic
DVL2	O14641	p.Ser143Asn	rs763236259	missense variant	-	NC_000017.11:g.7230138C>T	ExAC,gnomAD
DVL2	O14641	p.Ser143Gly	rs766801484	missense variant	-	NC_000017.11:g.7230139T>C	ExAC,gnomAD
DVL2	O14641	p.His144Arg	rs1370447669	missense variant	-	NC_000017.11:g.7230135T>C	gnomAD
DVL2	O14641	p.Asn146Ile	rs769938313	missense variant	-	NC_000017.11:g.7230129T>A	ExAC,gnomAD
DVL2	O14641	p.Glu148Gln	rs768843844	missense variant	-	NC_000017.11:g.7230124C>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu148Val	rs1477467720	missense variant	-	NC_000017.11:g.7230123T>A	gnomAD
DVL2	O14641	p.Pro149Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7230120G>A	NCI-TCGA
DVL2	O14641	p.Glu150Asp	rs745866879	missense variant	-	NC_000017.11:g.7230116C>G	ExAC,gnomAD
DVL2	O14641	p.Thr153Ile	rs1183686651	missense variant	-	NC_000017.11:g.7230108G>A	gnomAD
DVL2	O14641	p.Glu154Gly	rs1211436817	missense variant	-	NC_000017.11:g.7230105T>C	gnomAD
DVL2	O14641	p.Glu154Lys	rs200283908	missense variant	-	NC_000017.11:g.7230106C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu154Gln	rs200283908	missense variant	-	NC_000017.11:g.7230106C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu154Asp	rs749070452	missense variant	-	NC_000017.11:g.7230104C>G	ExAC,gnomAD
DVL2	O14641	p.Ser155Ala	rs1296596617	missense variant	-	NC_000017.11:g.7230103A>C	gnomAD
DVL2	O14641	p.Val156Ala	rs772035489	missense variant	-	NC_000017.11:g.7230099A>G	ExAC,gnomAD
DVL2	O14641	p.Val157Ala	rs755774216	missense variant	-	NC_000017.11:g.7230096A>G	ExAC,gnomAD
DVL2	O14641	p.Arg160Ser	rs149000857	missense variant	-	NC_000017.11:g.7230086C>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg161Gln	rs751008671	missense variant	-	NC_000017.11:g.7230084C>T	ExAC,gnomAD
DVL2	O14641	p.Arg161Trp	rs374072094	missense variant	-	NC_000017.11:g.7230085G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu162Gly	rs766815245	missense variant	-	NC_000017.11:g.7230081T>C	ExAC,gnomAD
DVL2	O14641	p.Glu162Lys	rs1015638798	missense variant	-	NC_000017.11:g.7230082C>T	TOPMed
DVL2	O14641	p.Arg163Leu	rs750791561	missense variant	-	NC_000017.11:g.7230078C>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg163Gln	rs750791561	missense variant	-	NC_000017.11:g.7230078C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg163Trp	rs763473965	missense variant	-	NC_000017.11:g.7230079G>A	ExAC,gnomAD
DVL2	O14641	p.Arg165His	rs144205338	missense variant	-	NC_000017.11:g.7230072C>T	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg165Leu	rs144205338	missense variant	-	NC_000017.11:g.7230072C>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg165Cys	rs909393329	missense variant	-	NC_000017.11:g.7230073G>A	TOPMed
DVL2	O14641	p.Arg167Gly	rs760859355	missense variant	-	NC_000017.11:g.7230067T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp168Glu	rs920906597	missense variant	-	NC_000017.11:g.7230062G>C	gnomAD
DVL2	O14641	p.Ser170Gly	rs1055453354	missense variant	-	NC_000017.11:g.7230058T>C	TOPMed,gnomAD
DVL2	O14641	p.Gly173Asp	rs1484168508	missense variant	-	NC_000017.11:g.7230048C>T	gnomAD
DVL2	O14641	p.Ala174Thr	rs564690047	missense variant	-	NC_000017.11:g.7230046C>T	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly176Asp	rs747955638	missense variant	-	NC_000017.11:g.7229937C>T	ExAC,gnomAD
DVL2	O14641	p.His177Arg	rs1186420528	missense variant	-	NC_000017.11:g.7229934T>C	TOPMed,gnomAD
DVL2	O14641	p.His177Asn	rs932816570	missense variant	-	NC_000017.11:g.7229935G>T	TOPMed
DVL2	O14641	p.Arg178Gly	rs1476824170	missense variant	-	NC_000017.11:g.7229932T>C	TOPMed
DVL2	O14641	p.Arg178Thr	rs1449137915	missense variant	-	NC_000017.11:g.7229931C>G	gnomAD
DVL2	O14641	p.Thr179Ser	rs1268312758	missense variant	-	NC_000017.11:g.7229928G>C	TOPMed,gnomAD
DVL2	O14641	p.Thr179Ile	rs1268312758	missense variant	-	NC_000017.11:g.7229928G>A	TOPMed,gnomAD
DVL2	O14641	p.Gly181Ala	rs11549559	missense variant	-	NC_000017.11:g.7229922C>G	gnomAD
DVL2	O14641	p.Gly181Val	rs11549559	missense variant	-	NC_000017.11:g.7229922C>A	gnomAD
DVL2	O14641	p.Glu186Lys	rs1455040451	missense variant	-	NC_000017.11:g.7229908C>T	gnomAD
DVL2	O14641	p.Arg187Cys	rs956522691	missense variant	-	NC_000017.11:g.7229905G>A	TOPMed,gnomAD
DVL2	O14641	p.Arg187His	rs776368265	missense variant	-	NC_000017.11:g.7229904C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.His188Arg	rs1032601139	missense variant	-	NC_000017.11:g.7229901T>C	TOPMed,gnomAD
DVL2	O14641	p.Gly191Arg	rs201978215	missense variant	-	NC_000017.11:g.7229893C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Tyr192Ter	rs140761538	stop gained	-	NC_000017.11:g.7229888G>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu193Lys	rs202089648	missense variant	-	NC_000017.11:g.7229887C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu193Gln	rs202089648	missense variant	-	NC_000017.11:g.7229887C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser196Cys	rs764534021	missense variant	-	NC_000017.11:g.7229877G>C	ExAC,gnomAD
DVL2	O14641	p.Ser196Phe	rs764534021	missense variant	-	NC_000017.11:g.7229877G>A	ExAC,gnomAD
DVL2	O14641	p.Met199Val	rs1166555705	missense variant	-	NC_000017.11:g.7229869T>C	TOPMed,gnomAD
DVL2	O14641	p.Met199Thr	rs372715697	missense variant	-	NC_000017.11:g.7229868A>G	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr200Ser	rs1280759900	missense variant	-	NC_000017.11:g.7229865G>C	gnomAD
DVL2	O14641	p.Ser201Arg	rs1239103487	missense variant	-	NC_000017.11:g.7229863T>G	TOPMed
DVL2	O14641	p.Ser205Gly	rs753893058	missense variant	-	NC_000017.11:g.7229851T>C	gnomAD
DVL2	O14641	p.Ser207Thr	rs1484359181	missense variant	-	NC_000017.11:g.7229844C>G	gnomAD
DVL2	O14641	p.Ser207Arg	rs1212850132	missense variant	-	NC_000017.11:g.7229845T>G	TOPMed
DVL2	O14641	p.Leu208Met	rs548574495	missense variant	-	NC_000017.11:g.7229842G>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Leu208Val	rs548574495	missense variant	-	NC_000017.11:g.7229842G>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly209Val	rs1258096872	missense variant	-	NC_000017.11:g.7229838C>A	gnomAD
DVL2	O14641	p.Asp210Asn	rs768424932	missense variant	-	NC_000017.11:g.7229836C>T	ExAC,gnomAD
DVL2	O14641	p.Ser211Leu	rs746705349	missense variant	-	NC_000017.11:g.7229832G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser211Trp	rs746705349	missense variant	-	NC_000017.11:g.7229832G>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp212Asn	rs1436669933	missense variant	-	NC_000017.11:g.7229830C>T	TOPMed
DVL2	O14641	p.Asp212Val	rs745415105	missense variant	-	NC_000017.11:g.7229829T>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp212Glu	rs903803977	missense variant	-	NC_000017.11:g.7229828G>C	TOPMed,gnomAD
DVL2	O14641	p.Glu213Lys	rs543488041	missense variant	-	NC_000017.11:g.7229827C>T	1000Genomes,gnomAD
DVL2	O14641	p.Glu214Val	rs1304344754	missense variant	-	NC_000017.11:g.7229823T>A	gnomAD
DVL2	O14641	p.Glu214Lys	rs1402669612	missense variant	-	NC_000017.11:g.7229824C>T	gnomAD
DVL2	O14641	p.Asp215Glu	rs1377277568	missense variant	-	NC_000017.11:g.7229819G>T	gnomAD
DVL2	O14641	p.Asp215Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7229821C>A	NCI-TCGA
DVL2	O14641	p.Thr216Ser	rs1020549764	missense variant	-	NC_000017.11:g.7229817G>C	TOPMed,gnomAD
DVL2	O14641	p.Thr216Ile	rs1020549764	missense variant	-	NC_000017.11:g.7229817G>A	TOPMed,gnomAD
DVL2	O14641	p.Met217Val	rs373945760	missense variant	-	NC_000017.11:g.7229815T>C	ESP,TOPMed
DVL2	O14641	p.Ser218Ile	COSM983843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7229811C>A	NCI-TCGA Cosmic
DVL2	O14641	p.Phe220Leu	rs1194539837	missense variant	-	NC_000017.11:g.7229677A>G	TOPMed
DVL2	O14641	p.Thr224Met	rs758475973	missense variant	-	NC_000017.11:g.7229664G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gln226His	rs760499709	missense variant	-	NC_000017.11:g.7229657C>G	ExAC,gnomAD
DVL2	O14641	p.Gln226Pro	rs764040738	missense variant	-	NC_000017.11:g.7229658T>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gln226Arg	rs764040738	missense variant	-	NC_000017.11:g.7229658T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser227Arg	rs1245801292	missense variant	-	NC_000017.11:g.7229654G>T	gnomAD
DVL2	O14641	p.Ser227Gly	rs752587872	missense variant	-	NC_000017.11:g.7229656T>C	ExAC,gnomAD
DVL2	O14641	p.Ser228Thr	rs1237867003	missense variant	-	NC_000017.11:g.7229652C>G	TOPMed,gnomAD
DVL2	O14641	p.Ser230Phe	rs1191948667	missense variant	-	NC_000017.11:g.7229646G>A	gnomAD
DVL2	O14641	p.Arg231Leu	rs374647852	missense variant	-	NC_000017.11:g.7229643C>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg231Cys	rs767205489	missense variant	-	NC_000017.11:g.7229644G>A	ExAC,gnomAD
DVL2	O14641	p.Arg231His	rs374647852	missense variant	-	NC_000017.11:g.7229643C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Leu233His	rs1208017156	missense variant	-	NC_000017.11:g.7229637A>T	gnomAD
DVL2	O14641	p.Arg235His	rs200939029	missense variant	-	NC_000017.11:g.7229631C>T	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg235Cys	rs1358619629	missense variant	-	NC_000017.11:g.7229632G>A	TOPMed,gnomAD
DVL2	O14641	p.Arg237Trp	rs140297538	missense variant	-	NC_000017.11:g.7229626G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg237Gln	rs1340378613	missense variant	-	NC_000017.11:g.7229625C>T	TOPMed,gnomAD
DVL2	O14641	p.Arg238Gln	rs1437375230	missense variant	-	NC_000017.11:g.7229622C>T	TOPMed,gnomAD
DVL2	O14641	p.Arg238Trp	rs772812566	missense variant	-	NC_000017.11:g.7229623G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg239Gln	rs770368957	missense variant	-	NC_000017.11:g.7229619C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg240Lys	rs748577861	missense variant	-	NC_000017.11:g.7229616C>T	ExAC,gnomAD
DVL2	O14641	p.Arg240Gly	rs1276024736	missense variant	-	NC_000017.11:g.7229617T>C	TOPMed
DVL2	O14641	p.Pro244Leu	rs569695349	missense variant	-	NC_000017.11:g.7229604G>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro245Ala	rs1170935601	missense variant	-	NC_000017.11:g.7229602G>C	gnomAD
DVL2	O14641	p.Pro245Ser	rs1170935601	missense variant	-	NC_000017.11:g.7229602G>A	gnomAD
DVL2	O14641	p.Pro245Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7229601G>A	NCI-TCGA
DVL2	O14641	p.Arg246His	rs780268199	missense variant	-	NC_000017.11:g.7229598C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg246Cys	rs151191814	missense variant	-	NC_000017.11:g.7229599G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg246Pro	rs780268199	missense variant	-	NC_000017.11:g.7229598C>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Leu247Val	rs758567595	missense variant	-	NC_000017.11:g.7229596G>C	ExAC,gnomAD
DVL2	O14641	p.Thr250Met	rs1334291468	missense variant	-	NC_000017.11:g.7229446G>A	TOPMed,gnomAD
DVL2	O14641	p.Ser252Cys	rs1388762158	missense variant	-	NC_000017.11:g.7229440G>C	gnomAD
DVL2	O14641	p.Val256Ile	rs926078603	missense variant	-	NC_000017.11:g.7229429C>T	TOPMed,gnomAD
DVL2	O14641	p.Asp258Gly	rs1338504848	missense variant	-	NC_000017.11:g.7229422T>C	TOPMed
DVL2	O14641	p.Asp258Asn	rs775890571	missense variant	-	NC_000017.11:g.7229423C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp258Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7229423C>A	NCI-TCGA
DVL2	O14641	p.Ser259Phe	rs1183242438	missense variant	-	NC_000017.11:g.7229419G>A	gnomAD
DVL2	O14641	p.Ser259Cys	rs1183242438	missense variant	-	NC_000017.11:g.7229419G>C	gnomAD
DVL2	O14641	p.Thr260Ala	rs1310267621	missense variant	-	NC_000017.11:g.7229417T>C	TOPMed
DVL2	O14641	p.Thr260Ser	rs1310267621	missense variant	-	NC_000017.11:g.7229417T>A	TOPMed
DVL2	O14641	p.Thr260Ile	rs1465498109	missense variant	-	NC_000017.11:g.7229416G>A	gnomAD
DVL2	O14641	p.Met261Val	rs1213733089	missense variant	-	NC_000017.11:g.7229414T>C	gnomAD
DVL2	O14641	p.Met261Ile	rs1238138830	missense variant	-	NC_000017.11:g.7229412C>T	TOPMed
DVL2	O14641	p.Asn264Asp	rs199741414	missense variant	-	NC_000017.11:g.7229405T>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asn264Ser	rs766953260	missense variant	-	NC_000017.11:g.7229404T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ile266Met	rs777874020	missense variant	-	NC_000017.11:g.7229397G>C	ExAC,gnomAD
DVL2	O14641	p.Thr269Arg	rs146828816	missense variant	-	NC_000017.11:g.7229389G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr269Met	rs146828816	missense variant	-	NC_000017.11:g.7229389G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Met272Leu	rs778454660	missense variant	-	NC_000017.11:g.7229381T>G	ExAC,gnomAD
DVL2	O14641	p.Met272Ile	rs1162667818	missense variant	-	NC_000017.11:g.7229379C>T	gnomAD
DVL2	O14641	p.Met272Val	rs778454660	missense variant	-	NC_000017.11:g.7229381T>C	ExAC,gnomAD
DVL2	O14641	p.Glu273Lys	rs1450401327	missense variant	-	NC_000017.11:g.7229378C>T	gnomAD
DVL2	O14641	p.Glu273Asp	COSM983841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7229273C>A	NCI-TCGA Cosmic
DVL2	O14641	p.Lys274Arg	rs760053415	missense variant	-	NC_000017.11:g.7229271T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asn276Ser	rs1301444726	missense variant	-	NC_000017.11:g.7229265T>C	gnomAD
DVL2	O14641	p.Ile282Thr	VAR_064708	Missense	-	-	UniProt
DVL2	O14641	p.Gln285His	rs222837	missense variant	-	NC_000017.11:g.7229237C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gln285His	rs222837	missense variant	-	NC_000017.11:g.7229237C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser286Asn	rs1399312912	missense variant	-	NC_000017.11:g.7229235C>T	TOPMed
DVL2	O14641	p.Asn287Ser	rs762008450	missense variant	-	NC_000017.11:g.7229232T>C	ExAC,gnomAD
DVL2	O14641	p.Asn287His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7229233T>G	NCI-TCGA
DVL2	O14641	p.Glu288Asp	rs1014496182	missense variant	-	NC_000017.11:g.7229228C>A	TOPMed,gnomAD
DVL2	O14641	p.Arg289Trp	rs775310167	missense variant	-	NC_000017.11:g.7229227G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg289Gln	rs772178047	missense variant	-	NC_000017.11:g.7229226C>T	ExAC,gnomAD
DVL2	O14641	p.Gly292Arg	rs774081156	missense variant	-	NC_000017.11:g.7229218C>T	ExAC,gnomAD
DVL2	O14641	p.Gly293Asp	rs1299791075	missense variant	-	NC_000017.11:g.7229214C>T	TOPMed
DVL2	O14641	p.Ile294Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7229210G>C	NCI-TCGA
DVL2	O14641	p.Ile296Val	rs1195587471	missense variant	-	NC_000017.11:g.7229206T>C	gnomAD
DVL2	O14641	p.Ile299Val	rs1480140879	missense variant	-	NC_000017.11:g.7229197T>C	gnomAD
DVL2	O14641	p.Met300Val	rs368088453	missense variant	-	NC_000017.11:g.7229194T>C	ESP,TOPMed
DVL2	O14641	p.Met300Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7229193A>C	NCI-TCGA
DVL2	O14641	p.Met300Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7229192C>T	NCI-TCGA
DVL2	O14641	p.Lys301Arg	rs748976501	missense variant	-	NC_000017.11:g.7229190T>C	ExAC,gnomAD
DVL2	O14641	p.Gly302Ser	rs916383550	missense variant	-	NC_000017.11:g.7229188C>T	gnomAD
DVL2	O14641	p.Gly302Val	rs1316881346	missense variant	-	NC_000017.11:g.7229187C>A	gnomAD
DVL2	O14641	p.Ala306Val	rs777424121	missense variant	-	NC_000017.11:g.7229175G>A	ExAC,gnomAD
DVL2	O14641	p.Asp308Asn	rs866911540	missense variant	-	NC_000017.11:g.7229170C>T	gnomAD
DVL2	O14641	p.Asp308Tyr	rs866911540	missense variant	-	NC_000017.11:g.7229170C>A	gnomAD
DVL2	O14641	p.Gly309Arg	rs752107513	missense variant	-	NC_000017.11:g.7229167C>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly309Arg	rs752107513	missense variant	-	NC_000017.11:g.7229167C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly309Glu	rs1379540784	missense variant	-	NC_000017.11:g.7229166C>T	gnomAD
DVL2	O14641	p.Arg310His	rs866201678	missense variant	-	NC_000017.11:g.7229163C>T	TOPMed,gnomAD
DVL2	O14641	p.Arg310Cys	rs376743029	missense variant	-	NC_000017.11:g.7229164G>A	ESP,TOPMed,gnomAD
DVL2	O14641	p.Ile311Val	rs766732685	missense variant	-	NC_000017.11:g.7229161T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ile311Met	rs1043116356	missense variant	-	NC_000017.11:g.7229159A>C	TOPMed
DVL2	O14641	p.Pro313Ser	COSM1189374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7229155G>A	NCI-TCGA Cosmic
DVL2	O14641	p.Met316Ile	rs758806996	missense variant	-	NC_000017.11:g.7229144C>T	ExAC,gnomAD
DVL2	O14641	p.Met316Val	rs983418682	missense variant	-	NC_000017.11:g.7229146T>C	TOPMed
DVL2	O14641	p.Leu317Val	rs373923131	missense variant	-	NC_000017.11:g.7229143G>C	ESP,ExAC,gnomAD
DVL2	O14641	p.Met323Leu	rs369818238	missense variant	-	NC_000017.11:g.7229036T>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asn324Lys	rs768146653	missense variant	-	NC_000017.11:g.7229031G>T	ExAC,gnomAD
DVL2	O14641	p.Phe325Val	rs1423410875	missense variant	-	NC_000017.11:g.7229030A>C	TOPMed
DVL2	O14641	p.Glu326Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7229027C>G	NCI-TCGA
DVL2	O14641	p.Asn327Thr	rs746563345	missense variant	-	NC_000017.11:g.7229023T>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Met328Thr	COSM269067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7229020A>G	NCI-TCGA Cosmic
DVL2	O14641	p.Met328Val	rs1255987739	missense variant	-	NC_000017.11:g.7229021T>C	gnomAD
DVL2	O14641	p.Ser329Asn	rs1025803726	missense variant	-	NC_000017.11:g.7229017C>T	TOPMed
DVL2	O14641	p.Asn330Ser	rs1420455300	missense variant	-	NC_000017.11:g.7229014T>C	TOPMed
DVL2	O14641	p.Asp331Asn	rs772684304	missense variant	-	NC_000017.11:g.7229012C>T	ExAC,gnomAD
DVL2	O14641	p.Arg335Gly	rs377201716	missense variant	-	NC_000017.11:g.7229000G>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg335Trp	rs377201716	missense variant	-	NC_000017.11:g.7229000G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg335Gln	rs368506835	missense variant	-	NC_000017.11:g.7228999C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp339Asn	rs572648827	missense variant	-	NC_000017.11:g.7228988C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ile340Val	rs148354072	missense variant	-	NC_000017.11:g.7228985T>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ile340Phe	rs148354072	missense variant	-	NC_000017.11:g.7228985T>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val341Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7228981A>G	NCI-TCGA
DVL2	O14641	p.His342Arg	rs1476176986	missense variant	-	NC_000017.11:g.7228978T>C	gnomAD
DVL2	O14641	p.Pro346Leu	rs866399492	missense variant	-	NC_000017.11:g.7228042G>A	gnomAD
DVL2	O14641	p.Ile347Leu	rs760443700	missense variant	-	NC_000017.11:g.7228040T>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ile347Val	rs760443700	missense variant	-	NC_000017.11:g.7228040T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val351Met	rs1335475116	missense variant	-	NC_000017.11:g.7228028C>T	gnomAD
DVL2	O14641	p.Ala352Val	rs1407729554	missense variant	-	NC_000017.11:g.7228024G>A	gnomAD
DVL2	O14641	p.Ala352Thr	rs1469955665	missense variant	-	NC_000017.11:g.7228025C>T	gnomAD
DVL2	O14641	p.Cys354Tyr	rs767229371	missense variant	-	NC_000017.11:g.7228018C>T	ExAC,gnomAD
DVL2	O14641	p.Trp355Cys	rs547857082	missense variant	-	NC_000017.11:g.7228014C>G	1000Genomes,TOPMed,gnomAD
DVL2	O14641	p.Trp355Cys	rs547857082	missense variant	-	NC_000017.11:g.7228014C>A	1000Genomes,TOPMed,gnomAD
DVL2	O14641	p.Asp356Asn	rs145138687	missense variant	-	NC_000017.11:g.7228013C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp356Val	rs1178821874	missense variant	-	NC_000017.11:g.7228012T>A	gnomAD
DVL2	O14641	p.Pro359Leu	rs1184490581	missense variant	-	NC_000017.11:g.7228003G>A	gnomAD
DVL2	O14641	p.Pro359His	COSM4069210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7228003G>T	NCI-TCGA Cosmic
DVL2	O14641	p.Pro359Ser	rs143084690	missense variant	-	NC_000017.11:g.7228004G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gln360Arg	rs1261409013	missense variant	-	NC_000017.11:g.7228000T>C	gnomAD
DVL2	O14641	p.Gln360Glu	rs771612069	missense variant	-	NC_000017.11:g.7228001G>C	ExAC,gnomAD
DVL2	O14641	p.Gln360His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7227999C>A	NCI-TCGA
DVL2	O14641	p.Ala361Gly	rs749743656	missense variant	-	NC_000017.11:g.7227997G>C	ExAC,gnomAD
DVL2	O14641	p.Tyr362Phe	rs773689180	missense variant	-	NC_000017.11:g.7227994T>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr364Ile	rs1323589742	missense variant	-	NC_000017.11:g.7227988G>A	TOPMed
DVL2	O14641	p.Pro366Leu	rs376020506	missense variant	-	NC_000017.11:g.7227982G>A	ESP,TOPMed
DVL2	O14641	p.Arg367Gly	rs145282702	missense variant	-	NC_000017.11:g.7227980G>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg367Leu	COSM4909640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227979C>A	NCI-TCGA Cosmic
DVL2	O14641	p.Arg367Gln	rs781418768	missense variant	-	NC_000017.11:g.7227979C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg367Ter	rs145282702	stop gained	-	NC_000017.11:g.7227980G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg367GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7227980G>-	NCI-TCGA
DVL2	O14641	p.Arg367ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7227979_7227980insG	NCI-TCGA
DVL2	O14641	p.Gln372Ter	rs369183923	stop gained	-	NC_000017.11:g.7227772G>A	ESP,ExAC,gnomAD
DVL2	O14641	p.Gln372Glu	rs369183923	missense variant	-	NC_000017.11:g.7227772G>C	ESP,ExAC,gnomAD
DVL2	O14641	p.Gln372Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7227772G>T	NCI-TCGA
DVL2	O14641	p.Pro373Ser	rs768918195	missense variant	-	NC_000017.11:g.7227769G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro373Thr	rs768918195	missense variant	-	NC_000017.11:g.7227769G>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ile374Val	rs199761996	missense variant	-	NC_000017.11:g.7227766T>C	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ile374Thr	rs780177279	missense variant	-	NC_000017.11:g.7227765A>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp375Glu	rs1429317949	missense variant	-	NC_000017.11:g.7227761G>T	gnomAD
DVL2	O14641	p.Ala377Asp	rs758413383	missense variant	-	NC_000017.11:g.7227756G>T	ExAC,gnomAD
DVL2	O14641	p.Ala377Gly	rs758413383	missense variant	-	NC_000017.11:g.7227756G>C	ExAC,gnomAD
DVL2	O14641	p.Ala378Thr	rs745911254	missense variant	-	NC_000017.11:g.7227754C>T	ExAC,gnomAD
DVL2	O14641	p.Ala378Val	rs1485862708	missense variant	-	NC_000017.11:g.7227753G>A	gnomAD
DVL2	O14641	p.Ser381Phe	rs372266846	missense variant	-	NC_000017.11:g.7227744G>A	ESP,gnomAD
DVL2	O14641	p.His382Tyr	rs777601755	missense variant	-	NC_000017.11:g.7227742G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser383Ala	rs1443737725	missense variant	-	NC_000017.11:g.7227739A>C	TOPMed
DVL2	O14641	p.Ser383Tyr	rs1291469270	missense variant	-	NC_000017.11:g.7227738G>T	gnomAD
DVL2	O14641	p.Ala384Val	rs767403206	missense variant	-	NC_000017.11:g.7227735G>A	ExAC,gnomAD
DVL2	O14641	p.Ala384Thr	rs140277298	missense variant	-	NC_000017.11:g.7227736C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Leu386Val	rs1360582197	missense variant	-	NC_000017.11:g.7227730G>C	TOPMed,gnomAD
DVL2	O14641	p.Gly388Asp	rs892848753	missense variant	-	NC_000017.11:g.7227723C>T	TOPMed
DVL2	O14641	p.Thr389LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7227720_7227721GT>-	NCI-TCGA
DVL2	O14641	p.Pro391Ala	rs145533856	missense variant	-	NC_000017.11:g.7227715G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Tyr393Cys	rs766067350	missense variant	-	NC_000017.11:g.7227708T>C	ExAC,gnomAD
DVL2	O14641	p.Gly395Asp	rs749913377	missense variant	-	NC_000017.11:g.7227702C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly395Cys	rs762396088	missense variant	-	NC_000017.11:g.7227703C>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser397Phe	COSM1303283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227696G>A	NCI-TCGA Cosmic
DVL2	O14641	p.Ser398Ala	rs1330117440	missense variant	-	NC_000017.11:g.7227694A>C	TOPMed
DVL2	O14641	p.Met399Val	rs117262744	missense variant	-	NC_000017.11:g.7227691T>C	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Met399Thr	rs575711352	missense variant	-	NC_000017.11:g.7227690A>G	1000Genomes,ExAC,gnomAD
DVL2	O14641	p.Ser400Asn	rs760962550	missense variant	-	NC_000017.11:g.7227687C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr403Pro	rs1268703085	missense variant	-	NC_000017.11:g.7227679T>G	gnomAD
DVL2	O14641	p.Ser404Pro	rs1276906750	missense variant	-	NC_000017.11:g.7227676A>G	TOPMed
DVL2	O14641	p.Ser404Phe	rs1324730572	missense variant	-	NC_000017.11:g.7227675G>A	TOPMed
DVL2	O14641	p.Gly405Glu	rs140804349	missense variant	-	NC_000017.11:g.7227672C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly405Val	rs140804349	missense variant	-	NC_000017.11:g.7227672C>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser406Trp	rs769941506	missense variant	-	NC_000017.11:g.7227669G>C	TOPMed,gnomAD
DVL2	O14641	p.Ser406Leu	rs769941506	missense variant	-	NC_000017.11:g.7227669G>A	TOPMed,gnomAD
DVL2	O14641	p.Pro409Arg	rs943589069	missense variant	-	NC_000017.11:g.7227660G>C	TOPMed
DVL2	O14641	p.Pro409Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7227661G>A	NCI-TCGA
DVL2	O14641	p.Cys412Arg	rs1235301580	missense variant	-	NC_000017.11:g.7227533A>G	gnomAD
DVL2	O14641	p.Arg415Trp	rs756683592	missense variant	-	NC_000017.11:g.7227524G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg415Gln	rs149100313	missense variant	-	NC_000017.11:g.7227523C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly416Asp	rs567701018	missense variant	-	NC_000017.11:g.7227520C>T	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly416Val	rs567701018	missense variant	-	NC_000017.11:g.7227520C>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly416Ser	rs753297890	missense variant	-	NC_000017.11:g.7227521C>T	ExAC,gnomAD
DVL2	O14641	p.Gly416Arg	rs753297890	missense variant	-	NC_000017.11:g.7227521C>G	ExAC,gnomAD
DVL2	O14641	p.Leu417Phe	rs1221660861	missense variant	-	NC_000017.11:g.7227518G>A	TOPMed
DVL2	O14641	p.Val419Ile	rs147661282	missense variant	-	NC_000017.11:g.7227512C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val419Phe	rs147661282	missense variant	-	NC_000017.11:g.7227512C>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.His420Arg	rs1384492319	missense variant	-	NC_000017.11:g.7227508T>C	gnomAD
DVL2	O14641	p.His420Tyr	rs369536247	missense variant	-	NC_000017.11:g.7227509G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr421Arg	rs537514398	missense variant	-	NC_000017.11:g.7227505G>C	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr421Met	rs537514398	missense variant	-	NC_000017.11:g.7227505G>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp422Asn	rs1425694083	missense variant	-	NC_000017.11:g.7227503C>T	gnomAD
DVL2	O14641	p.Met423Val	rs930923701	missense variant	-	NC_000017.11:g.7227500T>C	TOPMed
DVL2	O14641	p.Ala424Val	rs773398000	missense variant	-	NC_000017.11:g.7227496G>A	ExAC,gnomAD
DVL2	O14641	p.Ala424Thr	rs1367810006	missense variant	-	NC_000017.11:g.7227497C>T	gnomAD
DVL2	O14641	p.Ser425Leu	rs746934686	missense variant	-	NC_000017.11:g.7227493G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser425Trp	rs746934686	missense variant	-	NC_000017.11:g.7227493G>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val426Leu	rs775218768	missense variant	-	NC_000017.11:g.7227491C>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ala429Thr	rs780534485	missense variant	-	NC_000017.11:g.7227482C>T	ExAC,gnomAD
DVL2	O14641	p.Met430Val	rs778651719	missense variant	-	NC_000017.11:g.7227479T>C	ExAC,gnomAD
DVL2	O14641	p.Met430Leu	rs778651719	missense variant	-	NC_000017.11:g.7227479T>A	ExAC,gnomAD
DVL2	O14641	p.Ser435Phe	rs1293641688	missense variant	-	NC_000017.11:g.7227463G>A	gnomAD
DVL2	O14641	p.Arg440Gln	rs777251889	missense variant	-	NC_000017.11:g.7227448C>T	ExAC,gnomAD
DVL2	O14641	p.Arg440Trp	rs372746877	missense variant	-	NC_000017.11:g.7227449G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg442Cys	rs865809670	missense variant	-	NC_000017.11:g.7227443G>A	-
DVL2	O14641	p.Arg442His	COSM271230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227442C>T	NCI-TCGA Cosmic
DVL2	O14641	p.Met443Val	rs1324693779	missense variant	-	NC_000017.11:g.7227440T>C	TOPMed,gnomAD
DVL2	O14641	p.Met443Leu	rs1324693779	missense variant	-	NC_000017.11:g.7227440T>A	TOPMed,gnomAD
DVL2	O14641	p.Lys446Arg	rs1382903421	missense variant	-	NC_000017.11:g.7227430T>C	TOPMed
DVL2	O14641	p.Lys446Asn	COSM260615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227429C>A	NCI-TCGA Cosmic
DVL2	O14641	p.Ile447Met	rs1278159184	missense variant	-	NC_000017.11:g.7227426G>C	gnomAD
DVL2	O14641	p.Pro450Leu	rs1192249976	missense variant	-	NC_000017.11:g.7227418G>A	TOPMed,gnomAD
DVL2	O14641	p.Asn451Asp	rs756679382	missense variant	-	NC_000017.11:g.7227416T>C	ExAC,gnomAD
DVL2	O14641	p.Ala452Val	rs1474129740	missense variant	-	NC_000017.11:g.7227412G>A	gnomAD
DVL2	O14641	p.Phe453Ser	rs767850050	missense variant	-	NC_000017.11:g.7227409A>G	ExAC,gnomAD
DVL2	O14641	p.Ser456Leu	rs374646432	missense variant	-	NC_000017.11:g.7227266G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val458Met	rs770625484	missense variant	-	NC_000017.11:g.7227261C>T	ExAC,gnomAD
DVL2	O14641	p.Val459Ala	rs777339829	missense variant	-	NC_000017.11:g.7227257A>G	ExAC,gnomAD
DVL2	O14641	p.Trp461Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7227251C>T	NCI-TCGA
DVL2	O14641	p.Leu462Ile	rs1170674240	missense variant	-	NC_000017.11:g.7227249G>T	gnomAD
DVL2	O14641	p.Tyr463His	rs1233198382	missense variant	-	NC_000017.11:g.7227246A>G	gnomAD
DVL2	O14641	p.Tyr463Cys	rs202171326	missense variant	-	NC_000017.11:g.7227245T>C	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.His465Gln	rs374542663	missense variant	-	NC_000017.11:g.7227238G>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val466Met	rs1237719627	missense variant	-	NC_000017.11:g.7227237C>T	gnomAD
DVL2	O14641	p.Val466Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7227236A>G	NCI-TCGA
DVL2	O14641	p.Gly468Arg	rs1270913380	missense variant	-	NC_000017.11:g.7227231C>G	gnomAD
DVL2	O14641	p.Pro470Ser	rs1330458797	missense variant	-	NC_000017.11:g.7227225G>A	gnomAD
DVL2	O14641	p.Pro470Ala	COSM3521602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227225G>C	NCI-TCGA Cosmic
DVL2	O14641	p.Pro470Leu	rs1264036091	missense variant	-	NC_000017.11:g.7227224G>A	TOPMed
DVL2	O14641	p.Arg472Gln	rs1201801044	missense variant	-	NC_000017.11:g.7227218C>T	TOPMed
DVL2	O14641	p.Arg472Trp	rs758763721	missense variant	-	NC_000017.11:g.7227219G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg473Gln	rs750681720	missense variant	-	NC_000017.11:g.7227215C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg473Trp	rs1219101427	missense variant	-	NC_000017.11:g.7227216G>A	gnomAD
DVL2	O14641	p.Glu474Gly	rs765499408	missense variant	-	NC_000017.11:g.7227212T>C	ExAC,gnomAD
DVL2	O14641	p.Ala475Gly	rs1444007711	missense variant	-	NC_000017.11:g.7227209G>C	gnomAD
DVL2	O14641	p.Ala475Val	rs1444007711	missense variant	-	NC_000017.11:g.7227209G>A	gnomAD
DVL2	O14641	p.Arg476Cys	rs998549572	missense variant	-	NC_000017.11:g.7227207G>A	TOPMed
DVL2	O14641	p.Arg476His	rs761974845	missense variant	-	NC_000017.11:g.7227206C>T	ExAC,gnomAD
DVL2	O14641	p.Tyr478Ter	rs1452737917	stop gained	-	NC_000017.11:g.7227199A>C	TOPMed,gnomAD
DVL2	O14641	p.Tyr478Cys	rs753824070	missense variant	-	NC_000017.11:g.7227200T>C	ExAC,gnomAD
DVL2	O14641	p.Ala479Val	rs1407604432	missense variant	-	NC_000017.11:g.7227197G>A	gnomAD
DVL2	O14641	p.Ser480Gly	rs561234234	missense variant	-	NC_000017.11:g.7227195T>C	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly481Arg	rs774196384	missense variant	-	NC_000017.11:g.7227192C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Leu483Pro	rs762674705	missense variant	-	NC_000017.11:g.7227185A>G	ExAC
DVL2	O14641	p.Gly486Cys	rs747730229	missense variant	-	NC_000017.11:g.7227177C>A	ExAC,gnomAD
DVL2	O14641	p.Arg489Ter	rs1462726201	stop gained	-	NC_000017.11:g.7227168G>A	gnomAD
DVL2	O14641	p.Arg489Gln	rs1235783471	missense variant	-	NC_000017.11:g.7227167C>T	TOPMed,gnomAD
DVL2	O14641	p.Thr491Ile	rs780549231	missense variant	-	NC_000017.11:g.7227161G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val492Ile	rs780644904	missense variant	-	NC_000017.11:g.7227159C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Lys494Glu	rs758847437	missense variant	-	NC_000017.11:g.7227153T>C	ExAC,gnomAD
DVL2	O14641	p.Ile495Val	rs1353358793	missense variant	-	NC_000017.11:g.7227150T>C	gnomAD
DVL2	O14641	p.Phe497Leu	rs201096093	missense variant	-	NC_000017.11:g.7227144A>G	1000Genomes
DVL2	O14641	p.Gln500Ter	rs779310474	stop gained	-	NC_000017.11:g.7227135G>A	ExAC,gnomAD
DVL2	O14641	p.Gln500His	rs757392255	missense variant	-	NC_000017.11:g.7227133C>G	ExAC,gnomAD
DVL2	O14641	p.Tyr502His	rs1221916447	missense variant	-	NC_000017.11:g.7227129A>G	TOPMed
DVL2	O14641	p.Val504Ile	rs764074788	missense variant	-	NC_000017.11:g.7227123C>T	ExAC
DVL2	O14641	p.Gly506Arg	rs1320127388	missense variant	-	NC_000017.11:g.7227117C>T	TOPMed,gnomAD
DVL2	O14641	p.Asp507Asn	COSM983839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227114C>T	NCI-TCGA Cosmic
DVL2	O14641	p.Asp507Gly	rs1417664498	missense variant	-	NC_000017.11:g.7227113T>C	gnomAD
DVL2	O14641	p.Leu508Ile	COSM1385934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7227111G>T	NCI-TCGA Cosmic
DVL2	O14641	p.Ser509Asn	rs1250166546	missense variant	-	NC_000017.11:g.7227107C>T	TOPMed
DVL2	O14641	p.Ser509Gly	rs755649203	missense variant	-	NC_000017.11:g.7227108T>C	gnomAD
DVL2	O14641	p.Gly510Ser	rs1164499679	missense variant	-	NC_000017.11:g.7227105C>T	gnomAD
DVL2	O14641	p.Gly510Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7227105C>A	NCI-TCGA
DVL2	O14641	p.Cys512Ter	rs751510485	stop gained	-	NC_000017.11:g.7227097A>T	ExAC,gnomAD
DVL2	O14641	p.Cys512Phe	rs1251719162	missense variant	-	NC_000017.11:g.7227098C>A	gnomAD
DVL2	O14641	p.Cys512LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7227100_7227101insC	NCI-TCGA
DVL2	O14641	p.Ser514Ile	rs766251283	missense variant	-	NC_000017.11:g.7227092C>A	ExAC,gnomAD
DVL2	O14641	p.Tyr515His	rs762764604	missense variant	-	NC_000017.11:g.7227090A>G	ExAC,gnomAD
DVL2	O14641	p.Leu516Val	rs1317208259	missense variant	-	NC_000017.11:g.7226637G>C	TOPMed,gnomAD
DVL2	O14641	p.Leu516Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7226637G>T	NCI-TCGA
DVL2	O14641	p.Leu516ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7226636_7226637insTATACCCCTTAATGGGATTGCTG	NCI-TCGA
DVL2	O14641	p.Asn518Ser	rs1283783633	missense variant	-	NC_000017.11:g.7226630T>C	gnomAD
DVL2	O14641	p.Leu519Met	rs750278603	missense variant	-	NC_000017.11:g.7226628G>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Leu521Phe	rs1365176790	missense variant	-	NC_000017.11:g.7226622G>A	TOPMed,gnomAD
DVL2	O14641	p.Asn522Ser	rs1443178944	missense variant	-	NC_000017.11:g.7226618T>C	TOPMed,gnomAD
DVL2	O14641	p.Asn524Ser	rs1356396096	missense variant	-	NC_000017.11:g.7226612T>C	gnomAD
DVL2	O14641	p.Asp525Asn	rs1465615773	missense variant	-	NC_000017.11:g.7226610C>T	gnomAD
DVL2	O14641	p.Gly529Glu	rs1179132425	missense variant	-	NC_000017.11:g.7226597C>T	gnomAD
DVL2	O14641	p.Ala530Pro	rs1267079739	missense variant	-	NC_000017.11:g.7226595C>G	gnomAD
DVL2	O14641	p.Gln533Ter	rs1443073531	stop gained	-	NC_000017.11:g.7226586G>A	TOPMed,gnomAD
DVL2	O14641	p.Gln533Lys	rs1443073531	missense variant	-	NC_000017.11:g.7226586G>T	TOPMed,gnomAD
DVL2	O14641	p.Gln533Arg	rs760294769	missense variant	-	NC_000017.11:g.7226585T>C	ExAC,gnomAD
DVL2	O14641	p.Asp534Tyr	rs139855538	missense variant	-	NC_000017.11:g.7226583C>A	ESP,ExAC,gnomAD
DVL2	O14641	p.Asp534Asn	rs139855538	missense variant	-	NC_000017.11:g.7226583C>T	ESP,ExAC,gnomAD
DVL2	O14641	p.Thr535Ile	rs72839768	missense variant	-	NC_000017.11:g.7226579G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr535Asn	rs72839768	missense variant	-	NC_000017.11:g.7226579G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ala537Thr	rs774854172	missense variant	-	NC_000017.11:g.7226574C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro538Leu	rs1448139578	missense variant	-	NC_000017.11:g.7226570G>A	TOPMed
DVL2	O14641	p.Pro538Ser	rs771212668	missense variant	-	NC_000017.11:g.7226571G>A	ExAC,gnomAD
DVL2	O14641	p.Pro544His	rs777885516	missense variant	-	NC_000017.11:g.7226552G>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro544Arg	rs777885516	missense variant	-	NC_000017.11:g.7226552G>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Leu548AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7226542_7226543insT	NCI-TCGA
DVL2	O14641	p.Pro549Ser	rs186932260	missense variant	-	NC_000017.11:g.7226538G>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro549Leu	rs758400019	missense variant	-	NC_000017.11:g.7226537G>A	ExAC,gnomAD
DVL2	O14641	p.Thr550Ala	rs750368235	missense variant	-	NC_000017.11:g.7226535T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Phe551Ile	rs1176352987	missense variant	-	NC_000017.11:g.7226532A>T	gnomAD
DVL2	O14641	p.Ser552Thr	rs765167402	missense variant	-	NC_000017.11:g.7226529A>T	ExAC,gnomAD
DVL2	O14641	p.Ser552Phe	rs1243195423	missense variant	-	NC_000017.11:g.7226528G>A	gnomAD
DVL2	O14641	p.Tyr553Cys	rs565161291	missense variant	-	NC_000017.11:g.7226525T>C	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Tyr553Phe	rs565161291	missense variant	-	NC_000017.11:g.7226525T>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gln554Arg	rs1226080062	missense variant	-	NC_000017.11:g.7226522T>C	TOPMed
DVL2	O14641	p.Tyr555His	rs1216256662	missense variant	-	NC_000017.11:g.7226520A>G	gnomAD
DVL2	O14641	p.Pro556Ser	rs1359860604	missense variant	-	NC_000017.11:g.7226517G>A	TOPMed
DVL2	O14641	p.Pro556Leu	rs763694344	missense variant	-	NC_000017.11:g.7226516G>A	ExAC,gnomAD
DVL2	O14641	p.Ala557Val	rs1263487394	missense variant	-	NC_000017.11:g.7226513G>A	TOPMed
DVL2	O14641	p.Ala557Thr	rs1243735309	missense variant	-	NC_000017.11:g.7226514C>T	TOPMed
DVL2	O14641	p.Pro558Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7226511G>A	NCI-TCGA
DVL2	O14641	p.His559Gln	rs528578173	missense variant	-	NC_000017.11:g.7226506G>T	1000Genomes,ExAC,gnomAD
DVL2	O14641	p.His559Arg	rs1486933460	missense variant	-	NC_000017.11:g.7226507T>C	TOPMed
DVL2	O14641	p.Pro560Leu	rs759057007	missense variant	-	NC_000017.11:g.7226504G>A	ExAC,gnomAD
DVL2	O14641	p.Pro560Ser	rs767139067	missense variant	-	NC_000017.11:g.7226505G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser562Asn	COSM3691765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7226498C>T	NCI-TCGA Cosmic
DVL2	O14641	p.Pro563Leu	rs774742299	missense variant	-	NC_000017.11:g.7226495G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro565Leu	rs771429420	missense variant	-	NC_000017.11:g.7226489G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro565His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7226489G>T	NCI-TCGA
DVL2	O14641	p.Pro567Leu	rs1185930374	missense variant	-	NC_000017.11:g.7226483G>A	TOPMed
DVL2	O14641	p.Tyr568His	rs1244343722	missense variant	-	NC_000017.11:g.7226481A>G	TOPMed
DVL2	O14641	p.Tyr568Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7226479G>T	NCI-TCGA
DVL2	O14641	p.His569Leu	rs773601337	missense variant	-	NC_000017.11:g.7226477T>A	ExAC,gnomAD
DVL2	O14641	p.His569Arg	rs773601337	missense variant	-	NC_000017.11:g.7226477T>C	ExAC,gnomAD
DVL2	O14641	p.His569Tyr	rs201803378	missense variant	-	NC_000017.11:g.7226478G>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser572Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7226469A>G	NCI-TCGA
DVL2	O14641	p.Ser573Cys	rs768740247	missense variant	-	NC_000017.11:g.7226465G>C	ExAC,gnomAD
DVL2	O14641	p.Ser573Ala	rs781328615	missense variant	-	NC_000017.11:g.7226466A>C	ExAC,gnomAD
DVL2	O14641	p.Thr575Ile	rs747066639	missense variant	-	NC_000017.11:g.7226459G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr575Ala	rs1421485874	missense variant	-	NC_000017.11:g.7226460T>C	gnomAD
DVL2	O14641	p.Tyr576Cys	rs973083666	missense variant	-	NC_000017.11:g.7226456T>C	gnomAD
DVL2	O14641	p.Gly577Asp	rs1489174590	missense variant	-	NC_000017.11:g.7226453C>T	gnomAD
DVL2	O14641	p.Gly578Arg	rs778747234	missense variant	-	NC_000017.11:g.7226451C>T	ExAC,gnomAD
DVL2	O14641	p.Gly579Asp	rs1216246026	missense variant	-	NC_000017.11:g.7226447C>T	TOPMed,gnomAD
DVL2	O14641	p.Gly579AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7226447C>-	NCI-TCGA
DVL2	O14641	p.Ser580Asn	rs757188541	missense variant	-	NC_000017.11:g.7226444C>T	ExAC,gnomAD
DVL2	O14641	p.Ser583Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7226435C>T	NCI-TCGA
DVL2	O14641	p.His585Tyr	rs1339905602	missense variant	-	NC_000017.11:g.7226430G>A	gnomAD
DVL2	O14641	p.His585Gln	rs941356299	missense variant	-	NC_000017.11:g.7226428A>C	TOPMed
DVL2	O14641	p.Ser586Thr	rs371112172	missense variant	-	NC_000017.11:g.7226426C>G	ESP,TOPMed,gnomAD
DVL2	O14641	p.Ser586Gly	rs138493643	missense variant	-	NC_000017.11:g.7226427T>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu587Asp	COSM271229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7226422C>A	NCI-TCGA Cosmic
DVL2	O14641	p.Gly588Ser	rs755903914	missense variant	-	NC_000017.11:g.7226421C>T	ExAC,gnomAD
DVL2	O14641	p.Arg590Gln	rs754651383	missense variant	-	NC_000017.11:g.7226307C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg590Trp	rs752499366	missense variant	-	NC_000017.11:g.7226308G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg590Gly	rs752499366	missense variant	-	NC_000017.11:g.7226308G>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg590Pro	rs754651383	missense variant	-	NC_000017.11:g.7226307C>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser591Asn	rs751086029	missense variant	-	NC_000017.11:g.7226304C>T	ExAC,gnomAD
DVL2	O14641	p.Ser594Thr	rs1375212072	missense variant	-	NC_000017.11:g.7226296A>T	TOPMed
DVL2	O14641	p.Ser594Trp	rs765905839	missense variant	-	NC_000017.11:g.7226295G>C	ExAC,gnomAD
DVL2	O14641	p.Ser594Leu	rs765905839	missense variant	-	NC_000017.11:g.7226295G>A	ExAC,gnomAD
DVL2	O14641	p.Arg596Trp	rs973148117	missense variant	-	NC_000017.11:g.7226290G>A	TOPMed,gnomAD
DVL2	O14641	p.Arg596Gln	rs762306066	missense variant	-	NC_000017.11:g.7226289C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser597Gly	rs750956419	missense variant	-	NC_000017.11:g.7226287T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Asp598Gly	rs1263821242	missense variant	-	NC_000017.11:g.7226283T>C	TOPMed
DVL2	O14641	p.Gly599Arg	rs367563224	missense variant	-	NC_000017.11:g.7226281C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly599Trp	rs367563224	missense variant	-	NC_000017.11:g.7226281C>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly599Val	rs776949531	missense variant	-	NC_000017.11:g.7226280C>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly599Ala	rs776949531	missense variant	-	NC_000017.11:g.7226280C>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly599Arg	rs367563224	missense variant	-	NC_000017.11:g.7226281C>G	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly600Arg	rs1347645392	missense variant	-	NC_000017.11:g.7226278C>T	gnomAD
DVL2	O14641	p.Gly600Glu	rs1204840227	missense variant	-	NC_000017.11:g.7226277C>T	TOPMed
DVL2	O14641	p.Ala601Thr	rs370880170	missense variant	-	NC_000017.11:g.7226275C>T	ExAC,gnomAD
DVL2	O14641	p.Ala601Ser	rs370880170	missense variant	-	NC_000017.11:g.7226275C>A	ExAC,gnomAD
DVL2	O14641	p.Ala601GlnPheSerTerUnkUnk	rs771633429	frameshift	-	NC_000017.11:g.7226275C>-	NCI-TCGA,NCI-TCGA Cosmic
DVL2	O14641	p.Arg603His	rs908006315	missense variant	-	NC_000017.11:g.7226268C>T	TOPMed,gnomAD
DVL2	O14641	p.Arg603Cys	rs775501377	missense variant	-	NC_000017.11:g.7226269G>A	ExAC,TOPMed
DVL2	O14641	p.Thr604Met	rs773310143	missense variant	-	NC_000017.11:g.7226265G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr604Arg	rs773310143	missense variant	-	NC_000017.11:g.7226265G>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Thr604Ala	rs1432128654	missense variant	-	NC_000017.11:g.7226266T>C	TOPMed
DVL2	O14641	p.Thr604Lys	rs773310143	missense variant	-	NC_000017.11:g.7226265G>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly605Ala	rs781121098	missense variant	-	NC_000017.11:g.7226262C>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg606Met	rs1045544304	missense variant	-	NC_000017.11:g.7226259C>A	gnomAD
DVL2	O14641	p.Pro607Ser	rs1414940188	missense variant	-	NC_000017.11:g.7226257G>A	gnomAD
DVL2	O14641	p.Glu608Lys	rs1170581733	missense variant	-	NC_000017.11:g.7226254C>T	gnomAD
DVL2	O14641	p.Arg610Gln	rs757949522	missense variant	-	NC_000017.11:g.7226247C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg610Trp	rs779516848	missense variant	-	NC_000017.11:g.7226248G>A	ExAC,TOPMed
DVL2	O14641	p.Ala611Val	rs749895719	missense variant	-	NC_000017.11:g.7226244G>A	ExAC,gnomAD
DVL2	O14641	p.Pro612Ser	rs757743539	missense variant	-	NC_000017.11:g.7226242G>A	ExAC,gnomAD
DVL2	O14641	p.Pro612Ala	rs757743539	missense variant	-	NC_000017.11:g.7226242G>C	ExAC,gnomAD
DVL2	O14641	p.Pro612Leu	rs754263413	missense variant	-	NC_000017.11:g.7226241G>A	ExAC,gnomAD
DVL2	O14641	p.Glu613Ter	rs760883380	stop gained	-	NC_000017.11:g.7226239C>A	ExAC,gnomAD
DVL2	O14641	p.Glu613Gly	rs775801245	missense variant	-	NC_000017.11:g.7226238T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu613Ala	rs775801245	missense variant	-	NC_000017.11:g.7226238T>G	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Lys615Thr	rs1205088679	missense variant	-	NC_000017.11:g.7226232T>G	TOPMed
DVL2	O14641	p.Gly617Ser	rs759698030	missense variant	-	NC_000017.11:g.7226227C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly617Asp	rs774546616	missense variant	-	NC_000017.11:g.7226226C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser618Gly	rs769910353	missense variant	-	NC_000017.11:g.7226224T>C	ExAC,gnomAD
DVL2	O14641	p.Ser620Asn	rs201103337	missense variant	-	NC_000017.11:g.7226217C>T	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Glu623Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7226208T>C	NCI-TCGA
DVL2	O14641	p.Pro624Ser	rs370621371	missense variant	-	NC_000017.11:g.7226206G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser626Asn	rs746734137	missense variant	-	NC_000017.11:g.7226199C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser626Ile	rs746734137	missense variant	-	NC_000017.11:g.7226199C>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg627Ter	rs902612186	stop gained	-	NC_000017.11:g.7226197G>A	TOPMed,gnomAD
DVL2	O14641	p.Arg627Gln	rs779788537	missense variant	-	NC_000017.11:g.7226196C>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly628Val	rs1388060747	missense variant	-	NC_000017.11:g.7226193C>A	TOPMed
DVL2	O14641	p.Gly628Arg	rs1009152288	missense variant	-	NC_000017.11:g.7226194C>G	TOPMed
DVL2	O14641	p.Gly629Asp	rs757957085	missense variant	-	NC_000017.11:g.7226190C>T	ExAC,gnomAD
DVL2	O14641	p.Ser630Arg	rs1160735254	missense variant	-	NC_000017.11:g.7226186G>C	gnomAD
DVL2	O14641	p.Ser630GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7226189_7226190insC	NCI-TCGA
DVL2	O14641	p.Leu631Val	rs745436466	missense variant	-	NC_000017.11:g.7226185G>C	ExAC,gnomAD
DVL2	O14641	p.Arg632Trp	rs200445258	missense variant	-	NC_000017.11:g.7226182G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg632Gln	rs145230174	missense variant	-	NC_000017.11:g.7226181C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg632Leu	rs145230174	missense variant	-	NC_000017.11:g.7226181C>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg633Gln	rs141128284	missense variant	-	NC_000017.11:g.7226178C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg633Trp	rs199718103	missense variant	-	NC_000017.11:g.7226179G>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly634Cys	rs536462230	missense variant	-	NC_000017.11:g.7226176C>A	1000Genomes,ExAC,gnomAD
DVL2	O14641	p.Gly635Glu	rs1288561691	missense variant	-	NC_000017.11:g.7226172C>T	gnomAD
DVL2	O14641	p.Glu636Ala	rs767826461	missense variant	-	NC_000017.11:g.7226169T>G	ExAC,gnomAD
DVL2	O14641	p.Glu636Lys	rs922670659	missense variant	-	NC_000017.11:g.7226170C>T	TOPMed
DVL2	O14641	p.Ser638Asn	rs766570140	missense variant	-	NC_000017.11:g.7226163C>T	ExAC,gnomAD
DVL2	O14641	p.Ser638Ile	rs766570140	missense variant	-	NC_000017.11:g.7226163C>A	ExAC,gnomAD
DVL2	O14641	p.Ser641Thr	rs1474352766	missense variant	-	NC_000017.11:g.7226154C>G	gnomAD
DVL2	O14641	p.Ser641Gly	rs1380661512	missense variant	-	NC_000017.11:g.7226155T>C	gnomAD
DVL2	O14641	p.Asp642Asn	rs1447175372	missense variant	-	NC_000017.11:g.7226152C>T	TOPMed,gnomAD
DVL2	O14641	p.Asp642His	rs1447175372	missense variant	-	NC_000017.11:g.7226152C>G	TOPMed,gnomAD
DVL2	O14641	p.Pro645Leu	rs1417567348	missense variant	-	NC_000017.11:g.7226142G>A	gnomAD
DVL2	O14641	p.Pro645Ser	rs1296096211	missense variant	-	NC_000017.11:g.7226143G>A	TOPMed
DVL2	O14641	p.Pro646Ser	rs1165698134	missense variant	-	NC_000017.11:g.7226140G>A	TOPMed,gnomAD
DVL2	O14641	p.Pro646Arg	rs1407174859	missense variant	-	NC_000017.11:g.7226139G>C	TOPMed,gnomAD
DVL2	O14641	p.Pro647Ser	rs768438976	missense variant	-	NC_000017.11:g.7226137G>A	ExAC
DVL2	O14641	p.Ser648Phe	rs374515938	missense variant	-	NC_000017.11:g.7226133G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser651Leu	rs879603780	missense variant	-	NC_000017.11:g.7226124G>A	TOPMed
DVL2	O14641	p.Ser651Ala	rs775126495	missense variant	-	NC_000017.11:g.7226125A>C	ExAC,gnomAD
DVL2	O14641	p.Gly653Arg	rs143663171	missense variant	-	NC_000017.11:g.7226119C>T	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly653Trp	rs143663171	missense variant	-	NC_000017.11:g.7226119C>A	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gly654Asp	rs148194418	missense variant	-	NC_000017.11:g.7226115C>T	ESP,ExAC,gnomAD
DVL2	O14641	p.Ala655Thr	rs369806603	missense variant	-	NC_000017.11:g.7226113C>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro656Ser	rs139788506	missense variant	-	NC_000017.11:g.7226110G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Leu658Phe	rs372681115	missense variant	-	NC_000017.11:g.7226104G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Leu658Ile	rs372681115	missense variant	-	NC_000017.11:g.7226104G>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg659Gln	rs369108754	missense variant	-	NC_000017.11:g.7226100C>T	ESP,TOPMed,gnomAD
DVL2	O14641	p.Arg659Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7226101G>A	NCI-TCGA
DVL2	O14641	p.Ala660Val	rs778381739	missense variant	-	NC_000017.11:g.7226097G>A	ExAC
DVL2	O14641	p.His661Gln	rs143063937	missense variant	-	NC_000017.11:g.7226093G>C	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.His661Tyr	rs200412231	missense variant	-	NC_000017.11:g.7226095G>A	1000Genomes,ExAC,gnomAD
DVL2	O14641	p.His661Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7226095G>T	NCI-TCGA
DVL2	O14641	p.Gly663Val	rs1403800228	missense variant	-	NC_000017.11:g.7226088C>A	TOPMed
DVL2	O14641	p.His665Tyr	rs1339542016	missense variant	-	NC_000017.11:g.7226083G>A	gnomAD
DVL2	O14641	p.Pro666Leu	rs1438850368	missense variant	-	NC_000017.11:g.7226079G>A	gnomAD
DVL2	O14641	p.Tyr667His	rs1024042756	missense variant	-	NC_000017.11:g.7226077A>G	TOPMed,gnomAD
DVL2	O14641	p.Pro669Leu	rs751843492	missense variant	-	NC_000017.11:g.7226070G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro670His	rs267605047	missense variant	-	NC_000017.11:g.7226067G>T	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro670Leu	rs267605047	missense variant	-	NC_000017.11:g.7226067G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro671Thr	rs750439416	missense variant	-	NC_000017.11:g.7226065G>T	ExAC,gnomAD
DVL2	O14641	p.Pro671Ala	rs750439416	missense variant	-	NC_000017.11:g.7226065G>C	ExAC,gnomAD
DVL2	O14641	p.Gly672Asp	rs764142182	missense variant	-	NC_000017.11:g.7226061C>T	ExAC,gnomAD
DVL2	O14641	p.Gly672Val	rs764142182	missense variant	-	NC_000017.11:g.7226061C>A	ExAC,gnomAD
DVL2	O14641	p.Met673Ile	rs1489247757	missense variant	-	NC_000017.11:g.7226057C>T	gnomAD
DVL2	O14641	p.Met673Val	rs149062755	missense variant	-	NC_000017.11:g.7226059T>C	ESP,ExAC,TOPMed
DVL2	O14641	p.Tyr677Cys	rs759271815	missense variant	-	NC_000017.11:g.7226046T>C	ExAC,gnomAD
DVL2	O14641	p.Tyr677Asn	rs771770725	missense variant	-	NC_000017.11:g.7226047A>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro679Ser	rs147610025	missense variant	-	NC_000017.11:g.7226041G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Met680Val	rs1265703676	missense variant	-	NC_000017.11:g.7226038T>C	TOPMed
DVL2	O14641	p.Met681Thr	rs1259955103	missense variant	-	NC_000017.11:g.7226034A>G	TOPMed,gnomAD
DVL2	O14641	p.Met681Arg	rs1259955103	missense variant	-	NC_000017.11:g.7226034A>C	TOPMed,gnomAD
DVL2	O14641	p.Val683Ala	rs770537300	missense variant	-	NC_000017.11:g.7226028A>G	ExAC,gnomAD
DVL2	O14641	p.Met684Leu	rs748841149	missense variant	-	NC_000017.11:g.7226026T>G	ExAC,gnomAD
DVL2	O14641	p.Pro686Ser	rs1301705137	missense variant	-	NC_000017.11:g.7226020G>A	gnomAD
DVL2	O14641	p.Pro687Gln	rs375466737	missense variant	-	NC_000017.11:g.7226016G>T	ESP,ExAC,gnomAD
DVL2	O14641	p.Pro688Leu	rs141433972	missense variant	-	NC_000017.11:g.7226013G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro688Ser	rs370334570	missense variant	-	NC_000017.11:g.7226014G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro690Ser	rs147861581	missense variant	-	NC_000017.11:g.7226008G>A	ESP,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro690Leu	rs1465540012	missense variant	-	NC_000017.11:g.7226007G>A	gnomAD
DVL2	O14641	p.Pro693Leu	rs1431749829	missense variant	-	NC_000017.11:g.7225998G>A	gnomAD
DVL2	O14641	p.Pro694Leu	rs758673316	missense variant	-	NC_000017.11:g.7225995G>A	ExAC,gnomAD
DVL2	O14641	p.Val696Met	rs750574732	missense variant	-	NC_000017.11:g.7225990C>T	ExAC
DVL2	O14641	p.Gln697His	rs144529320	missense variant	-	NC_000017.11:g.7225985C>G	ESP,gnomAD
DVL2	O14641	p.Pro698Leu	rs922618549	missense variant	-	NC_000017.11:g.7225983G>A	gnomAD
DVL2	O14641	p.Pro699Leu	rs752593583	missense variant	-	NC_000017.11:g.7225980G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Pro699Ser	rs757298992	missense variant	-	NC_000017.11:g.7225981G>A	ExAC,gnomAD
DVL2	O14641	p.Asp706Glu	rs201947862	missense variant	-	NC_000017.11:g.7225958G>C	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Val710Ala	rs1289406698	missense variant	-	NC_000017.11:g.7225947A>G	TOPMed
DVL2	O14641	p.Val710Leu	rs769201038	missense variant	-	NC_000017.11:g.7225948C>G	ExAC,gnomAD
DVL2	O14641	p.Pro712Leu	rs777033867	missense variant	-	NC_000017.11:g.7225941G>A	ExAC,gnomAD
DVL2	O14641	p.Thr715Pro	rs769256723	missense variant	-	NC_000017.11:g.7225933T>G	ExAC,gnomAD
DVL2	O14641	p.Ser717Arg	rs747427559	missense variant	-	NC_000017.11:g.7225925G>T	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg718His	rs202054703	missense variant	-	NC_000017.11:g.7225923C>T	1000Genomes,ExAC,TOPMed,gnomAD
DVL2	O14641	p.Arg718Cys	rs780552994	missense variant	-	NC_000017.11:g.7225924G>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Gln719Arg	rs1419916400	missense variant	-	NC_000017.11:g.7225920T>C	gnomAD
DVL2	O14641	p.Ser720Gly	rs1176245582	missense variant	-	NC_000017.11:g.7225918T>C	gnomAD
DVL2	O14641	p.Phe721Leu	rs1440648573	missense variant	-	NC_000017.11:g.7225915A>G	TOPMed
DVL2	O14641	p.Phe721Leu	rs1206306266	missense variant	-	NC_000017.11:g.7225913G>C	TOPMed
DVL2	O14641	p.Met723Val	rs1346093042	missense variant	-	NC_000017.11:g.7225909T>C	TOPMed,gnomAD
DVL2	O14641	p.Met725Leu	rs753921561	missense variant	-	NC_000017.11:g.7225903T>A	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Met725Thr	rs767490193	missense variant	-	NC_000017.11:g.7225902A>G	ExAC,gnomAD
DVL2	O14641	p.Met725Val	rs753921561	missense variant	-	NC_000017.11:g.7225903T>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Met725Ile	rs1482175486	missense variant	-	NC_000017.11:g.7225901C>T	TOPMed,gnomAD
DVL2	O14641	p.Gly726Ser	rs754891875	missense variant	-	NC_000017.11:g.7225900C>T	ExAC,gnomAD
DVL2	O14641	p.Ser729Arg	rs766166785	missense variant	-	NC_000017.11:g.7225891T>G	ExAC,gnomAD
DVL2	O14641	p.Ser729Arg	rs373299689	missense variant	-	NC_000017.11:g.7225889G>C	ExAC,TOPMed,gnomAD
DVL2	O14641	p.Ser729Cys	COSM983838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7225891T>A	NCI-TCGA Cosmic
DVL2	O14641	p.Glu730Lys	rs1400645935	missense variant	-	NC_000017.11:g.7225888C>T	TOPMed
DVL2	O14641	p.Val735Ile	rs201114631	missense variant	-	NC_000017.11:g.7225873C>T	1000Genomes,ExAC,gnomAD
DVL2	O14641	p.Met736Thr	rs1412139842	missense variant	-	NC_000017.11:g.7225869A>G	TOPMed
APAF1	O14727	p.Asp2Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98648364A>G	NCI-TCGA
APAF1	O14727	p.Asp2Asn	rs1300153351	missense variant	-	NC_000012.12:g.98648363G>A	TOPMed
APAF1	O14727	p.Ala3Thr	rs1216860579	missense variant	-	NC_000012.12:g.98648366G>A	gnomAD
APAF1	O14727	p.Arg6Gln	COSM3813291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648376G>A	NCI-TCGA Cosmic
APAF1	O14727	p.Arg6Gly	rs776606994	missense variant	-	NC_000012.12:g.98648375C>G	ExAC,gnomAD
APAF1	O14727	p.Cys8Tyr	rs765077795	missense variant	-	NC_000012.12:g.98648382G>A	ExAC,gnomAD
APAF1	O14727	p.Cys8Arg	rs761730145	missense variant	-	NC_000012.12:g.98648381T>C	ExAC,gnomAD
APAF1	O14727	p.Cys8Phe	rs765077795	missense variant	-	NC_000012.12:g.98648382G>T	ExAC,gnomAD
APAF1	O14727	p.Arg13Lys	rs373035647	missense variant	-	NC_000012.12:g.98648397G>A	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg13Gly	rs966090697	missense variant	-	NC_000012.12:g.98648396A>G	gnomAD
APAF1	O14727	p.Glu14Gly	rs1250804010	missense variant	-	NC_000012.12:g.98648400A>G	gnomAD
APAF1	O14727	p.Ile20Val	rs368174559	missense variant	-	NC_000012.12:g.98648417A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile20Met	rs1363526414	missense variant	-	NC_000012.12:g.98648419C>G	gnomAD
APAF1	O14727	p.Ser23Pro	rs751071524	missense variant	-	NC_000012.12:g.98648426T>C	ExAC,gnomAD
APAF1	O14727	p.Ser23Cys	rs1016681790	missense variant	-	NC_000012.12:g.98648427C>G	TOPMed
APAF1	O14727	p.Tyr24His	rs1254715652	missense variant	-	NC_000012.12:g.98648429T>C	gnomAD
APAF1	O14727	p.Tyr24Cys	rs150457288	missense variant	-	NC_000012.12:g.98648430A>G	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Met26Val	rs753165073	missense variant	-	NC_000012.12:g.98648435A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile30Thr	rs1323939935	missense variant	-	NC_000012.12:g.98648448T>C	gnomAD
APAF1	O14727	p.Ser31Asn	rs756482718	missense variant	-	NC_000012.12:g.98648451G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser31Thr	rs756482718	missense variant	-	NC_000012.12:g.98648451G>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly33Ala	rs778908657	missense variant	-	NC_000012.12:g.98648457G>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly33Arg	rs771167842	missense variant	-	NC_000012.12:g.98648456G>A	ExAC,gnomAD
APAF1	O14727	p.Gly33Glu	rs778908657	missense variant	-	NC_000012.12:g.98648457G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu35Ter	RCV000709688	frameshift	Neural tube defect (NTD)	NC_000012.12:g.98648463dup	ClinVar
APAF1	O14727	p.Thr36Ala	rs1269887018	missense variant	-	NC_000012.12:g.98648465A>G	gnomAD
APAF1	O14727	p.Ile37Val	rs372259373	missense variant	-	NC_000012.12:g.98648468A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser38Thr	rs1270717462	missense variant	-	NC_000012.12:g.98648471T>A	gnomAD
APAF1	O14727	p.Glu39Ala	rs776731061	missense variant	-	NC_000012.12:g.98648475A>C	ExAC,gnomAD
APAF1	O14727	p.Glu41Lys	rs1268751626	missense variant	-	NC_000012.12:g.98648480G>A	TOPMed
APAF1	O14727	p.Lys42Asn	rs1209995584	missense variant	-	NC_000012.12:g.98648485A>C	gnomAD
APAF1	O14727	p.Arg44Thr	rs1417655916	missense variant	-	NC_000012.12:g.98648490G>C	gnomAD
APAF1	O14727	p.Asn45Ser	rs145226502	missense variant	-	NC_000012.12:g.98648493A>G	1000Genomes,ExAC,TOPMed
APAF1	O14727	p.Glu46Lys	rs199944569	missense variant	-	NC_000012.12:g.98648495G>A	1000Genomes,ExAC
APAF1	O14727	p.Pro47Ser	rs1239771247	missense variant	-	NC_000012.12:g.98648626C>T	gnomAD
APAF1	O14727	p.Gln50Leu	COSM6138715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648636A>T	NCI-TCGA Cosmic
APAF1	O14727	p.Gln51Arg	rs770595178	missense variant	-	NC_000012.12:g.98648639A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ala54Val	rs1186070944	missense variant	-	NC_000012.12:g.98648648C>T	gnomAD
APAF1	O14727	p.Met55Ile	rs1259676865	missense variant	-	NC_000012.12:g.98648652G>A	TOPMed,gnomAD
APAF1	O14727	p.Lys58Glu	rs915308331	missense variant	-	NC_000012.12:g.98648659A>G	TOPMed,gnomAD
APAF1	O14727	p.Met59Thr	COSM944885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648663T>C	NCI-TCGA Cosmic
APAF1	O14727	p.Met59Val	rs889297282	missense variant	-	NC_000012.12:g.98648662A>G	TOPMed,gnomAD
APAF1	O14727	p.Ile60Thr	rs774078486	missense variant	-	NC_000012.12:g.98648666T>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile60Met	rs200621810	missense variant	-	NC_000012.12:g.98648667A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Lys63Asn	rs1448656182	missense variant	-	NC_000012.12:g.98648676A>T	gnomAD
APAF1	O14727	p.Asn65Ile	rs966408324	missense variant	-	NC_000012.12:g.98648681A>T	gnomAD
APAF1	O14727	p.Asn65Ser	rs966408324	missense variant	-	NC_000012.12:g.98648681A>G	gnomAD
APAF1	O14727	p.Ser67Tyr	rs767077671	missense variant	-	NC_000012.12:g.98648687C>A	ExAC,gnomAD
APAF1	O14727	p.Tyr68Ser	rs1297807608	missense variant	-	NC_000012.12:g.98648690A>C	gnomAD
APAF1	O14727	p.Tyr68Cys	rs1297807608	missense variant	-	NC_000012.12:g.98648690A>G	gnomAD
APAF1	O14727	p.Val69Leu	rs745962333	missense variant	-	NC_000012.12:g.98648692G>T	gnomAD
APAF1	O14727	p.Val69Ile	rs745962333	missense variant	-	NC_000012.12:g.98648692G>A	gnomAD
APAF1	O14727	p.Tyr72Ter	rs373040331	stop gained	-	NC_000012.12:g.98648703C>A	ESP,ExAC,gnomAD
APAF1	O14727	p.Asn73His	rs757661181	missense variant	-	NC_000012.12:g.98648704A>C	ExAC,gnomAD
APAF1	O14727	p.Asn73Ser	rs1225484862	missense variant	-	NC_000012.12:g.98648705A>G	TOPMed,gnomAD
APAF1	O14727	p.Leu75Val	rs1466271656	missense variant	-	NC_000012.12:g.98648710C>G	gnomAD
APAF1	O14727	p.Leu76Pro	rs376597105	missense variant	-	NC_000012.12:g.98648714T>C	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.His77Asn	rs1189314792	missense variant	-	NC_000012.12:g.98648716C>A	gnomAD
APAF1	O14727	p.His77Arg	rs561566651	missense variant	-	NC_000012.12:g.98648717A>G	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Gly79Val	rs1414974149	missense variant	-	NC_000012.12:g.98648723G>T	gnomAD
APAF1	O14727	p.Lys81Glu	rs756164693	missense variant	-	NC_000012.12:g.98648728A>G	ExAC,gnomAD
APAF1	O14727	p.Asp82Glu	rs1320603249	missense variant	-	NC_000012.12:g.98648733T>A	gnomAD
APAF1	O14727	p.Asp82Tyr	rs777800292	missense variant	-	NC_000012.12:g.98648731G>T	ExAC,gnomAD
APAF1	O14727	p.Leu83Phe	COSM432038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648734C>T	NCI-TCGA Cosmic
APAF1	O14727	p.Ala84Ser	rs749134752	missense variant	-	NC_000012.12:g.98648737G>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.His88Asp	rs925746508	missense variant	-	NC_000012.12:g.98648749C>G	TOPMed
APAF1	O14727	p.Asp89Val	rs1433835580	missense variant	-	NC_000012.12:g.98648753A>T	gnomAD
APAF1	O14727	p.Gly90Asp	rs1276979489	missense variant	-	NC_000012.12:g.98648756G>A	gnomAD
APAF1	O14727	p.Ile91Leu	rs139951279	missense variant	-	NC_000012.12:g.98648758A>C	ESP,ExAC,gnomAD
APAF1	O14727	p.Ile91Phe	rs139951279	missense variant	-	NC_000012.12:g.98648758A>T	ESP,ExAC,gnomAD
APAF1	O14727	p.Ile91Val	rs139951279	missense variant	-	NC_000012.12:g.98648758A>G	ESP,ExAC,gnomAD
APAF1	O14727	p.Pro92Ser	rs141352935	missense variant	-	NC_000012.12:g.98648761C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser96Phe	rs150823984	missense variant	-	NC_000012.12:g.98648774C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser98Gly	rs941494231	missense variant	-	NC_000012.12:g.98648779A>G	TOPMed
APAF1	O14727	p.Lys100Arg	rs1249831203	missense variant	-	NC_000012.12:g.98648786A>G	TOPMed
APAF1	O14727	p.Asp101Asn	rs1272614161	missense variant	-	NC_000012.12:g.98648788G>A	gnomAD
APAF1	O14727	p.Asp101Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98648788G>T	NCI-TCGA
APAF1	O14727	p.Ser102Ala	COSM4045591	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98648791T>G	NCI-TCGA Cosmic
APAF1	O14727	p.Gly105Ala	rs1189918216	missense variant	-	NC_000012.12:g.98648801G>C	TOPMed
APAF1	O14727	p.Thr107Ala	rs917012585	missense variant	-	NC_000012.12:g.98648806A>G	TOPMed,gnomAD
APAF1	O14727	p.Ser108Leu	rs768104025	missense variant	-	NC_000012.12:g.98648810C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Tyr109Ter	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98648814T>-	NCI-TCGA
APAF1	O14727	p.Tyr109Cys	rs993896526	missense variant	-	NC_000012.12:g.98648813A>G	TOPMed,gnomAD
APAF1	O14727	p.Thr112Ala	rs1166292661	missense variant	-	NC_000012.12:g.98649492A>G	TOPMed,gnomAD
APAF1	O14727	p.Val113Ala	rs1381680519	missense variant	-	NC_000012.12:g.98649496T>C	TOPMed
APAF1	O14727	p.Cys115Phe	rs780803533	missense variant	-	NC_000012.12:g.98649502G>T	ExAC,gnomAD
APAF1	O14727	p.Gln121Ter	rs1416640980	stop gained	-	NC_000012.12:g.98649519C>T	gnomAD
APAF1	O14727	p.Arg122Lys	rs150005477	missense variant	-	NC_000012.12:g.98649523G>A	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Val124Ala	rs1334942986	missense variant	-	NC_000012.12:g.98649529T>C	TOPMed,gnomAD
APAF1	O14727	p.Thr128Ser	rs769311146	missense variant	-	NC_000012.12:g.98649540A>T	ExAC,gnomAD
APAF1	O14727	p.Thr128Ile	rs147700706	missense variant	-	NC_000012.12:g.98649541C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg129Gly	rs749757628	missense variant	-	NC_000012.12:g.98649543A>G	ExAC
APAF1	O14727	p.Val133Glu	rs1366166319	missense variant	-	NC_000012.12:g.98649556T>A	gnomAD
APAF1	O14727	p.Ala135Thr	rs771430171	missense variant	-	NC_000012.12:g.98649561G>A	ExAC,gnomAD
APAF1	O14727	p.Ala135Val	rs774840943	missense variant	-	NC_000012.12:g.98649562C>T	ExAC,gnomAD
APAF1	O14727	p.Gln137Ter	rs759884217	stop gained	-	NC_000012.12:g.98649567C>T	ExAC,gnomAD
APAF1	O14727	p.Gln138Ter	rs1387312393	stop gained	-	NC_000012.12:g.98649570C>T	TOPMed
APAF1	O14727	p.Lys142Arg	rs767600058	missense variant	-	NC_000012.12:g.98649583A>G	ExAC,gnomAD
APAF1	O14727	p.Lys144Thr	rs200533513	missense variant	-	NC_000012.12:g.98649589A>C	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly145Val	rs985473565	missense variant	-	NC_000012.12:g.98649592G>T	TOPMed
APAF1	O14727	p.Glu146Val	COSM69683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98649595A>T	NCI-TCGA Cosmic
APAF1	O14727	p.Pro147Thr	rs760691992	missense variant	-	NC_000012.12:g.98649597C>A	ExAC,gnomAD
APAF1	O14727	p.Ile152Thr	rs1449689942	missense variant	-	NC_000012.12:g.98649613T>C	gnomAD
APAF1	O14727	p.His153Arg	rs377171914	missense variant	-	NC_000012.12:g.98649616A>G	ESP,ExAC,gnomAD
APAF1	O14727	p.Gly154Arg	rs1376222776	missense variant	-	NC_000012.12:g.98649618G>A	gnomAD
APAF1	O14727	p.Cys158Tyr	rs1173629827	missense variant	-	NC_000012.12:g.98649631G>A	gnomAD
APAF1	O14727	p.Val162Ile	rs766220748	missense variant	-	NC_000012.12:g.98649642G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Val162Leu	rs766220748	missense variant	-	NC_000012.12:g.98649642G>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu166Lys	rs1211159304	missense variant	-	NC_000012.12:g.98649654G>A	TOPMed
APAF1	O14727	p.Glu166Gly	rs754700839	missense variant	-	NC_000012.12:g.98649655A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ala167Thr	rs113035658	missense variant	-	NC_000012.12:g.98649657G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp170Glu	rs144787055	missense variant	-	NC_000012.12:g.98649668T>G	ESP,TOPMed,gnomAD
APAF1	O14727	p.Asp170Tyr	COSM944886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98649666G>T	NCI-TCGA Cosmic
APAF1	O14727	p.His171Tyr	COSM1128437	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98649669C>T	NCI-TCGA Cosmic
APAF1	O14727	p.Ser172Cys	COSM3813293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98649673C>G	NCI-TCGA Cosmic
APAF1	O14727	p.Ser172Phe	rs147932236	missense variant	-	NC_000012.12:g.98649673C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu173Phe	rs1235361025	missense variant	-	NC_000012.12:g.98649675C>T	TOPMed,gnomAD
APAF1	O14727	p.Gly180Arg	rs755789982	missense variant	-	NC_000012.12:g.98659171G>C	ExAC,gnomAD
APAF1	O14727	p.Gly181Glu	rs865933949	missense variant	-	NC_000012.12:g.98659175G>A	TOPMed
APAF1	O14727	p.Gly181Arg	rs1388767708	missense variant	-	NC_000012.12:g.98659174G>A	TOPMed
APAF1	O14727	p.His183Arg	rs200830441	missense variant	-	NC_000012.12:g.98659181A>G	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Trp184Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98659183T>C	NCI-TCGA
APAF1	O14727	p.Val187Ala	rs746326392	missense variant	-	NC_000012.12:g.98659193T>C	ExAC,gnomAD
APAF1	O14727	p.Val187Phe	rs370928764	missense variant	-	NC_000012.12:g.98659192G>T	ESP,ExAC,gnomAD
APAF1	O14727	p.Val187Leu	rs370928764	missense variant	-	NC_000012.12:g.98659192G>C	ESP,ExAC,gnomAD
APAF1	O14727	p.Lys189AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98659195G>-	NCI-TCGA
APAF1	O14727	p.Lys192Ile	rs1370484839	missense variant	-	NC_000012.12:g.98659208A>T	gnomAD
APAF1	O14727	p.Lys192Glu	COSM944887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98659207A>G	NCI-TCGA Cosmic
APAF1	O14727	p.Lys192Thr	rs1370484839	missense variant	-	NC_000012.12:g.98659208A>C	gnomAD
APAF1	O14727	p.Lys192Arg	rs1370484839	missense variant	-	NC_000012.12:g.98659208A>G	gnomAD
APAF1	O14727	p.Lys192Thr	rs1370484839	missense variant	-	NC_000012.12:g.98659208A>C	NCI-TCGA Cosmic
APAF1	O14727	p.Gly194Val	rs1477170972	missense variant	-	NC_000012.12:g.98659214G>T	NCI-TCGA
APAF1	O14727	p.Gly194Val	rs1477170972	missense variant	-	NC_000012.12:g.98659214G>T	TOPMed
APAF1	O14727	p.Met197Thr	rs768844558	missense variant	-	NC_000012.12:g.98659223T>C	ExAC,gnomAD
APAF1	O14727	p.Gln200His	COSM4662308	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98659233G>T	NCI-TCGA Cosmic
APAF1	O14727	p.Asn201Asp	rs374500915	missense variant	-	NC_000012.12:g.98659234A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn201Lys	rs1366413214	missense variant	-	NC_000012.12:g.98659236T>A	gnomAD
APAF1	O14727	p.Leu202Val	rs1426727139	missense variant	-	NC_000012.12:g.98659237C>G	gnomAD
APAF1	O14727	p.Thr204Ile	rs1292010768	missense variant	-	NC_000012.12:g.98659244C>T	gnomAD
APAF1	O14727	p.Arg205Gln	rs1309940307	missense variant	-	NC_000012.12:g.98659247G>A	gnomAD
APAF1	O14727	p.Arg205Trp	rs769817820	missense variant	-	NC_000012.12:g.98659246C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg205Gln	rs1309940307	missense variant	-	NC_000012.12:g.98659247G>A	NCI-TCGA Cosmic
APAF1	O14727	p.Gln208Pro	rs759455114	missense variant	-	NC_000012.12:g.98659256A>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln208Arg	rs759455114	missense variant	-	NC_000012.12:g.98659256A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln208Ter	COSM3466778	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98659255C>T	NCI-TCGA Cosmic
APAF1	O14727	p.Asp209Val	rs1274413198	missense variant	-	NC_000012.12:g.98659259A>T	gnomAD
APAF1	O14727	p.Ser211Cys	rs767285611	missense variant	-	NC_000012.12:g.98659264A>T	ExAC,gnomAD
APAF1	O14727	p.Phe212Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98659267T>C	NCI-TCGA
APAF1	O14727	p.Ser213Cys	rs1199843033	missense variant	-	NC_000012.12:g.98659271C>G	TOPMed
APAF1	O14727	p.Arg215Ser	rs1207717759	missense variant	-	NC_000012.12:g.98659278G>C	gnomAD
APAF1	O14727	p.Leu216Pro	rs752512193	missense variant	-	NC_000012.12:g.98659280T>C	ExAC,gnomAD
APAF1	O14727	p.Leu218Val	rs753489861	missense variant	-	NC_000012.12:g.98659285C>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile220Val	rs1309746107	missense variant	-	NC_000012.12:g.98659291A>G	TOPMed,gnomAD
APAF1	O14727	p.Ala223Ser	rs1188121391	missense variant	-	NC_000012.12:g.98659300G>T	TOPMed,gnomAD
APAF1	O14727	p.Ala223Asp	rs778498609	missense variant	-	NC_000012.12:g.98659301C>A	ExAC,gnomAD
APAF1	O14727	p.Ala223Gly	rs778498609	missense variant	-	NC_000012.12:g.98659301C>G	ExAC,gnomAD
APAF1	O14727	p.Lys224Glu	rs1427636277	missense variant	-	NC_000012.12:g.98659303A>G	gnomAD
APAF1	O14727	p.Asp225Tyr	rs758924156	missense variant	-	NC_000012.12:g.98659306G>T	ExAC,gnomAD
APAF1	O14727	p.Arg226Cys	rs1465434660	missense variant	-	NC_000012.12:g.98659309C>T	TOPMed,gnomAD
APAF1	O14727	p.Arg226His	rs780332778	missense variant	-	NC_000012.12:g.98659310G>A	ExAC,gnomAD
APAF1	O14727	p.Arg226Cys	rs1465434660	missense variant	-	NC_000012.12:g.98659309C>T	NCI-TCGA Cosmic
APAF1	O14727	p.Arg228His	rs1452948462	missense variant	-	NC_000012.12:g.98659316G>A	gnomAD
APAF1	O14727	p.Arg228Cys	rs747369160	missense variant	-	NC_000012.12:g.98659315C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg228His	rs1452948462	missense variant	-	NC_000012.12:g.98659316G>A	NCI-TCGA
APAF1	O14727	p.Arg228Cys	rs747369160	missense variant	-	NC_000012.12:g.98659315C>T	NCI-TCGA,NCI-TCGA Cosmic
APAF1	O14727	p.Ile229Val	rs1296482581	missense variant	-	NC_000012.12:g.98659318A>G	gnomAD
APAF1	O14727	p.Arg233Cys	rs768971192	missense variant	-	NC_000012.12:g.98659330C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg233His	rs141157255	missense variant	-	NC_000012.12:g.98659331G>A	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg233Cys	rs768971192	missense variant	-	NC_000012.12:g.98659330C>T	NCI-TCGA
APAF1	O14727	p.Lys234Arg	rs748315424	missense variant	-	NC_000012.12:g.98659334A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Lys234Asn	rs951830657	missense variant	-	NC_000012.12:g.98659335A>C	TOPMed
APAF1	O14727	p.His235Tyr	rs368744142	missense variant	-	NC_000012.12:g.98659336C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg237Ser	rs756319379	missense variant	-	NC_000012.12:g.98662456G>T	ExAC,gnomAD
APAF1	O14727	p.Ser238Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98662458C>T	NCI-TCGA
APAF1	O14727	p.Leu239Val	rs537644742	missense variant	-	NC_000012.12:g.98662460C>G	1000Genomes,TOPMed,gnomAD
APAF1	O14727	p.Leu242Ser	rs1248641437	missense variant	-	NC_000012.12:g.98662470T>C	TOPMed
APAF1	O14727	p.Asp244His	COSM4894202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98662475G>C	NCI-TCGA Cosmic
APAF1	O14727	p.Val245Leu	rs1318514424	missense variant	-	NC_000012.12:g.98662478G>C	gnomAD
APAF1	O14727	p.Ser248Phe	rs770864896	missense variant	-	NC_000012.12:g.98662488C>T	ExAC,gnomAD
APAF1	O14727	p.Ser248Cys	rs770864896	missense variant	-	NC_000012.12:g.98662488C>G	ExAC,gnomAD
APAF1	O14727	p.Ser248Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98662487T>A	NCI-TCGA
APAF1	O14727	p.Trp249Ser	rs775507125	missense variant	-	NC_000012.12:g.98662491G>C	ExAC,gnomAD
APAF1	O14727	p.Ala253Val	rs1162889828	missense variant	-	NC_000012.12:g.98662503C>T	TOPMed,gnomAD
APAF1	O14727	p.Cys258Tyr	rs768637465	missense variant	-	NC_000012.12:g.98662518G>A	ExAC,gnomAD
APAF1	O14727	p.Cys258Ser	rs746875464	missense variant	-	NC_000012.12:g.98662517T>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile260Val	rs1224389708	missense variant	-	NC_000012.12:g.98662523A>G	gnomAD
APAF1	O14727	p.Leu261Val	rs145270473	missense variant	-	NC_000012.12:g.98662526C>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu261Phe	rs145270473	missense variant	-	NC_000012.12:g.98662526C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Thr263Lys	rs950176672	missense variant	-	NC_000012.12:g.98662533C>A	TOPMed
APAF1	O14727	p.Thr264Ile	rs1320141890	missense variant	-	NC_000012.12:g.98662536C>T	gnomAD
APAF1	O14727	p.Arg265Ter	rs1299014329	stop gained	-	NC_000012.12:g.98662538A>T	TOPMed
APAF1	O14727	p.Asp266Tyr	COSM278895	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98662541G>T	NCI-TCGA Cosmic
APAF1	O14727	p.Lys267Arg	rs1434407100	missense variant	-	NC_000012.12:g.98662545A>G	TOPMed
APAF1	O14727	p.Val269Ile	rs199783677	missense variant	-	NC_000012.12:g.98662550G>A	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Ser272Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98662560C>T	NCI-TCGA
APAF1	O14727	p.Met274Thr	rs1270700267	missense variant	-	NC_000012.12:g.98662566T>C	gnomAD
APAF1	O14727	p.Pro276Leu	rs1385450553	missense variant	-	NC_000012.12:g.98662678C>T	TOPMed,gnomAD
APAF1	O14727	p.Lys277Asn	rs1429561405	missense variant	-	NC_000012.12:g.98662682A>T	TOPMed,gnomAD
APAF1	O14727	p.Tyr278Phe	rs898651129	missense variant	-	NC_000012.12:g.98662684A>T	TOPMed,gnomAD
APAF1	O14727	p.Glu283Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98662700G>T	NCI-TCGA
APAF1	O14727	p.Ser284Thr	rs1410958872	missense variant	-	NC_000012.12:g.98662702G>C	gnomAD
APAF1	O14727	p.Leu286Ser	rs1228272710	missense variant	-	NC_000012.12:g.98662708T>C	TOPMed
APAF1	O14727	p.Gly287Arg	rs144728788	missense variant	-	NC_000012.12:g.98662710G>C	ESP,TOPMed
APAF1	O14727	p.Lys288Asn	rs138616141	missense variant	-	NC_000012.12:g.98662715G>C	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Lys288Arg	rs760089515	missense variant	-	NC_000012.12:g.98662714A>G	ExAC,gnomAD
APAF1	O14727	p.Lys290Asn	rs1316056871	missense variant	-	NC_000012.12:g.98662721A>C	gnomAD
APAF1	O14727	p.Lys290Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98662720A>G	NCI-TCGA
APAF1	O14727	p.Gly291Glu	rs753148886	missense variant	-	NC_000012.12:g.98662723G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly291ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98662716_98662717insA	NCI-TCGA
APAF1	O14727	p.Leu292Phe	rs1227479916	missense variant	-	NC_000012.12:g.98662725C>T	gnomAD
APAF1	O14727	p.Glu293Gln	rs1046826037	missense variant	-	NC_000012.12:g.98662728G>C	TOPMed,gnomAD
APAF1	O14727	p.Glu293Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98662728G>A	NCI-TCGA
APAF1	O14727	p.Ile294Met	rs1228957932	missense variant	-	NC_000012.12:g.98662733T>G	gnomAD
APAF1	O14727	p.Leu295Val	rs1321851268	missense variant	-	NC_000012.12:g.98662734T>G	TOPMed
APAF1	O14727	p.Leu295Phe	rs1392873920	missense variant	-	NC_000012.12:g.98662736A>T	TOPMed
APAF1	O14727	p.Asn300His	rs201562861	missense variant	-	NC_000012.12:g.98662749A>C	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Met301Lys	rs769974597	missense variant	-	NC_000012.12:g.98662753T>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Met301Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98662754G>T	NCI-TCGA
APAF1	O14727	p.Lys303Glu	rs1440244009	missense variant	-	NC_000012.12:g.98662758A>G	gnomAD
APAF1	O14727	p.Ala304Thr	rs149321598	missense variant	-	NC_000012.12:g.98662761G>A	ESP,ExAC,gnomAD
APAF1	O14727	p.Ala304GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98662760G>-	NCI-TCGA
APAF1	O14727	p.Ala304Val	rs189237320	missense variant	-	NC_000012.12:g.98662762C>T	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu306Ser	rs1375077279	missense variant	-	NC_000012.12:g.98662768T>C	gnomAD
APAF1	O14727	p.Glu308Asp	rs1476046923	missense variant	-	NC_000012.12:g.98662775A>T	gnomAD
APAF1	O14727	p.Gln309Leu	rs750499402	missense variant	-	NC_000012.12:g.98662777A>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile313Val	rs192898520	missense variant	-	NC_000012.12:g.98662788A>G	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Lys315Asn	COSM696225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98662796A>T	NCI-TCGA Cosmic
APAF1	O14727	p.Glu316Val	rs369909924	missense variant	-	NC_000012.12:g.98662798A>T	gnomAD
APAF1	O14727	p.Glu316Ter	COSM3738620	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98662797G>T	NCI-TCGA Cosmic
APAF1	O14727	p.Glu316Gln	rs1483201943	missense variant	-	NC_000012.12:g.98662797G>C	TOPMed
APAF1	O14727	p.Lys318Asn	rs769637846	missense variant	-	NC_000012.12:g.98662805A>T	ExAC,gnomAD
APAF1	O14727	p.Gly319Asp	rs777675629	missense variant	-	NC_000012.12:g.98665553G>A	ExAC,gnomAD
APAF1	O14727	p.Gly319Ala	rs777675629	missense variant	-	NC_000012.12:g.98665553G>C	ExAC,gnomAD
APAF1	O14727	p.Ser320Phe	rs1209681193	missense variant	-	NC_000012.12:g.98665556C>T	gnomAD
APAF1	O14727	p.Pro321His	rs749009060	missense variant	-	NC_000012.12:g.98665559C>A	ExAC,gnomAD
APAF1	O14727	p.Val324Ile	rs778546488	missense variant	-	NC_000012.12:g.98665567G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile327Val	rs771635032	missense variant	-	NC_000012.12:g.98665576A>G	ExAC,gnomAD
APAF1	O14727	p.Ala329Thr	rs995869705	missense variant	-	NC_000012.12:g.98665582G>A	TOPMed
APAF1	O14727	p.Arg332His	rs769012939	missense variant	-	NC_000012.12:g.98665592G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg332Leu	rs769012939	missense variant	-	NC_000012.12:g.98665592G>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg332Cys	rs1162432784	missense variant	-	NC_000012.12:g.98665591C>T	gnomAD
APAF1	O14727	p.Asn336Ser	rs765641337	missense variant	-	NC_000012.12:g.98665604A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg337His	rs1006261171	missense variant	-	NC_000012.12:g.98665607G>A	TOPMed
APAF1	O14727	p.Arg337Cys	rs773574010	missense variant	-	NC_000012.12:g.98665606C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg337Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98665606C>A	NCI-TCGA
APAF1	O14727	p.Glu339Ala	rs1407535320	missense variant	-	NC_000012.12:g.98665613A>C	TOPMed,gnomAD
APAF1	O14727	p.Tyr340His	rs1308504401	missense variant	-	NC_000012.12:g.98665615T>C	gnomAD
APAF1	O14727	p.Asn347Asp	rs763265874	missense variant	-	NC_000012.12:g.98665636A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln349His	rs766627138	missense variant	-	NC_000012.12:g.98665644G>C	ExAC,gnomAD
APAF1	O14727	p.Phe350Leu	rs1223644343	missense variant	-	NC_000012.12:g.98665647T>A	gnomAD
APAF1	O14727	p.Arg352Ile	COSM944891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98665652G>T	NCI-TCGA Cosmic
APAF1	O14727	p.Ile353Val	rs756120322	missense variant	-	NC_000012.12:g.98665654A>G	ExAC,gnomAD
APAF1	O14727	p.Lys355Thr	rs763974517	missense variant	-	NC_000012.12:g.98665661A>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser356Phe	rs1227317636	missense variant	-	NC_000012.12:g.98665664C>T	TOPMed
APAF1	O14727	p.Ser357Leu	rs753747121	missense variant	-	NC_000012.12:g.98665667C>T	ExAC,gnomAD
APAF1	O14727	p.Asp360Gly	rs758021604	missense variant	-	NC_000012.12:g.98665676A>G	ExAC,gnomAD
APAF1	O14727	p.Asp360Val	rs758021604	missense variant	-	NC_000012.12:g.98665676A>T	ExAC,gnomAD
APAF1	O14727	p.Asp360Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98665675G>A	NCI-TCGA
APAF1	O14727	p.Tyr361Ter	rs980221719	stop gained	-	NC_000012.12:g.98665680T>G	TOPMed
APAF1	O14727	p.Tyr361Asn	rs779653660	missense variant	-	NC_000012.12:g.98665678T>A	ExAC,gnomAD
APAF1	O14727	p.Leu364Val	rs1369939464	missense variant	-	NC_000012.12:g.98665687C>G	gnomAD
APAF1	O14727	p.Asp365Glu	rs201932795	missense variant	-	NC_000012.12:g.98665692T>G	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu366Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98665693G>A	NCI-TCGA
APAF1	O14727	p.Ser369Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98665703C>T	NCI-TCGA
APAF1	O14727	p.Ile370Val	rs768162508	missense variant	-	NC_000012.12:g.98665705A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser371Cys	rs1264896516	missense variant	-	NC_000012.12:g.98665708A>T	gnomAD
APAF1	O14727	p.Met374Thr	rs748600489	missense variant	-	NC_000012.12:g.98665718T>C	ExAC,gnomAD
APAF1	O14727	p.Arg376Gly	rs141824871	missense variant	-	NC_000012.12:g.98665723A>G	ESP,gnomAD
APAF1	O14727	p.Arg376Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98665724G>T	NCI-TCGA
APAF1	O14727	p.Arg376Thr	rs770350894	missense variant	-	NC_000012.12:g.98665724G>C	ExAC,gnomAD
APAF1	O14727	p.Glu377Gln	rs773700554	missense variant	-	NC_000012.12:g.98665726G>C	ExAC,gnomAD
APAF1	O14727	p.Glu377Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98665726G>A	NCI-TCGA
APAF1	O14727	p.Asp378Ala	rs201629052	missense variant	-	NC_000012.12:g.98665730A>C	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Asp378Gly	rs201629052	missense variant	-	NC_000012.12:g.98665730A>G	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Asp378Tyr	COSM944892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98665729G>T	NCI-TCGA Cosmic
APAF1	O14727	p.Ile379Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98665734C>G	NCI-TCGA
APAF1	O14727	p.Tyr382Asp	rs1251992214	missense variant	-	NC_000012.12:g.98665741T>G	gnomAD
APAF1	O14727	p.Tyr382Ser	rs927344084	missense variant	-	NC_000012.12:g.98665742A>C	TOPMed,gnomAD
APAF1	O14727	p.Thr384Ala	rs766680485	missense variant	-	NC_000012.12:g.98665747A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Thr384Arg	rs1245274488	missense variant	-	NC_000012.12:g.98665748C>G	gnomAD
APAF1	O14727	p.Asp385Asn	rs1164373366	missense variant	-	NC_000012.12:g.98665750G>A	TOPMed
APAF1	O14727	p.Leu386Phe	rs1445453802	missense variant	-	NC_000012.12:g.98665753C>T	gnomAD
APAF1	O14727	p.Ser387Cys	rs1310426717	missense variant	-	NC_000012.12:g.98665757C>G	TOPMed,gnomAD
APAF1	O14727	p.Gln390Arg	rs1389249015	missense variant	-	NC_000012.12:g.98665766A>G	gnomAD
APAF1	O14727	p.Val393Ile	rs570250043	missense variant	-	NC_000012.12:g.98665774G>A	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Lys394Arg	rs1172506101	missense variant	-	NC_000012.12:g.98665778A>G	gnomAD
APAF1	O14727	p.Lys394Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98665778A>C	NCI-TCGA
APAF1	O14727	p.Pro396Ser	rs1261022174	missense variant	-	NC_000012.12:g.98665783C>T	TOPMed,gnomAD
APAF1	O14727	p.Pro396Ala	rs1261022174	missense variant	-	NC_000012.12:g.98665783C>G	TOPMed,gnomAD
APAF1	O14727	p.Thr397Ala	rs753782480	missense variant	-	NC_000012.12:g.98665786A>G	ExAC,gnomAD
APAF1	O14727	p.Cys401Arg	rs371118366	missense variant	-	NC_000012.12:g.98666196T>C	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile402Val	rs766131635	missense variant	-	NC_000012.12:g.98666199A>G	ExAC,gnomAD
APAF1	O14727	p.Ile402Phe	rs766131635	missense variant	-	NC_000012.12:g.98666199A>T	ExAC,gnomAD
APAF1	O14727	p.Leu403Pro	rs1421932898	missense variant	-	NC_000012.12:g.98666203T>C	gnomAD
APAF1	O14727	p.Met406Ile	rs941756431	missense variant	-	NC_000012.12:g.98666213G>A	TOPMed
APAF1	O14727	p.Glu407Gln	rs1295941185	missense variant	-	NC_000012.12:g.98666214G>C	TOPMed,gnomAD
APAF1	O14727	p.Glu407Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98666215A>C	NCI-TCGA
APAF1	O14727	p.Thr408Ala	rs754647777	missense variant	-	NC_000012.12:g.98666217A>G	ExAC,gnomAD
APAF1	O14727	p.Glu410Lys	rs780618856	missense variant	-	NC_000012.12:g.98666223G>A	ExAC,gnomAD
APAF1	O14727	p.Glu410Gln	rs780618856	missense variant	-	NC_000012.12:g.98666223G>C	ExAC,gnomAD
APAF1	O14727	p.Glu410Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98666224A>T	NCI-TCGA
APAF1	O14727	p.Val411Ala	COSM3466779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98666227T>C	NCI-TCGA Cosmic
APAF1	O14727	p.Asp413Tyr	rs752227133	missense variant	-	NC_000012.12:g.98666232G>T	ExAC,gnomAD
APAF1	O14727	p.Ile414Thr	rs755648185	missense variant	-	NC_000012.12:g.98666236T>C	ExAC,gnomAD
APAF1	O14727	p.Glu417Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98666246G>T	NCI-TCGA
APAF1	O14727	p.Glu417Lys	COSM944893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98666244G>A	NCI-TCGA Cosmic
APAF1	O14727	p.Phe418Ser	rs1444871075	missense variant	-	NC_000012.12:g.98666248T>C	TOPMed
APAF1	O14727	p.Asn420Ser	rs140772800	missense variant	-	NC_000012.12:g.98666254A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn420Asp	rs771263499	missense variant	-	NC_000012.12:g.98666253A>G	ExAC,gnomAD
APAF1	O14727	p.Ser422Phe	COSM3872755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98666260C>T	NCI-TCGA Cosmic
APAF1	O14727	p.Leu423PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98666259_98666260TC>-	NCI-TCGA
APAF1	O14727	p.Leu424IlePheSerTerUnk	COSM5078964	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98666263_98666264TT>-	NCI-TCGA Cosmic
APAF1	O14727	p.Cys426Gly	rs1482550096	missense variant	-	NC_000012.12:g.98666271T>G	TOPMed
APAF1	O14727	p.Arg428Gln	rs1263053370	missense variant	-	NC_000012.12:g.98666278G>A	TOPMed
APAF1	O14727	p.Arg428Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98666277C>T	NCI-TCGA
APAF1	O14727	p.Asn429His	rs1180826003	missense variant	-	NC_000012.12:g.98666280A>C	gnomAD
APAF1	O14727	p.Gly430Arg	rs552032520	missense variant	-	NC_000012.12:g.98666283G>A	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Ser432Trp	rs775647653	missense variant	-	NC_000012.12:g.98666290C>G	ExAC,gnomAD
APAF1	O14727	p.Ser432Leu	rs775647653	missense variant	-	NC_000012.12:g.98666290C>T	ExAC,gnomAD
APAF1	O14727	p.Phe433Leu	rs773139246	missense variant	-	NC_000012.12:g.98666294T>G	ExAC,gnomAD
APAF1	O14727	p.Arg434Cys	rs368429786	missense variant	-	NC_000012.12:g.98666295C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg434His	rs201872620	missense variant	-	NC_000012.12:g.98666296G>A	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Tyr436Phe	rs759154322	missense variant	-	NC_000012.12:g.98666302A>T	ExAC,gnomAD
APAF1	O14727	p.Tyr436His	rs1409349806	missense variant	-	NC_000012.12:g.98666301T>C	gnomAD
APAF1	O14727	p.His438Arg	rs767233730	missense variant	-	NC_000012.12:g.98666308A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp439Gly	rs752354073	missense variant	-	NC_000012.12:g.98666311A>G	ExAC,gnomAD
APAF1	O14727	p.Asp439Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98666311A>C	NCI-TCGA
APAF1	O14727	p.Leu440Pro	rs1394117838	missense variant	-	NC_000012.12:g.98666314T>C	TOPMed
APAF1	O14727	p.Asp443Asn	rs144721573	missense variant	-	NC_000012.12:g.98666322G>A	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp443Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98666322G>T	NCI-TCGA
APAF1	O14727	p.Thr446Ser	rs75622772	missense variant	-	NC_000012.12:g.98666331A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu447Gly	rs1180490017	missense variant	-	NC_000012.12:g.98666335A>G	gnomAD
APAF1	O14727	p.Lys448Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98666339G>T	NCI-TCGA
APAF1	O14727	p.Asn449Thr	rs1022878589	missense variant	-	NC_000012.12:g.98666341A>C	TOPMed
APAF1	O14727	p.Asn449ThrPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000012.12:g.98666340_98666341insCATAACACCT	NCI-TCGA
APAF1	O14727	p.Cys450Trp	rs139378273	missense variant	-	NC_000012.12:g.98666345C>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu453Ile	COSM4929243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98666352C>A	NCI-TCGA Cosmic
APAF1	O14727	p.Leu453Phe	rs371633206	missense variant	-	NC_000012.12:g.98666352C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln454Arg	rs150056794	missense variant	-	NC_000012.12:g.98666356A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln454Ter	rs780260260	stop gained	-	NC_000012.12:g.98666355C>T	ExAC,gnomAD
APAF1	O14727	p.Lys458Glu	rs755160411	missense variant	-	NC_000012.12:g.98667522A>G	ExAC,gnomAD
APAF1	O14727	p.Lys458Asn	rs1475413327	missense variant	-	NC_000012.12:g.98667524G>C	TOPMed
APAF1	O14727	p.Ile461Phe	rs1454723746	missense variant	-	NC_000012.12:g.98667531A>T	gnomAD
APAF1	O14727	p.Thr462Ile	rs1338493851	missense variant	-	NC_000012.12:g.98667535C>T	gnomAD
APAF1	O14727	p.Gln465Arg	rs76732147	missense variant	-	NC_000012.12:g.98667544A>G	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln465Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.98667543C>T	NCI-TCGA
APAF1	O14727	p.Arg466Ser	rs913728516	missense variant	-	NC_000012.12:g.98667548A>C	TOPMed,gnomAD
APAF1	O14727	p.Tyr467Asp	rs553425177	missense variant	-	NC_000012.12:g.98667549T>G	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.His468Pro	rs774346140	missense variant	-	NC_000012.12:g.98667553A>C	ExAC,gnomAD
APAF1	O14727	p.His468Arg	rs774346140	missense variant	-	NC_000012.12:g.98667553A>G	ExAC,gnomAD
APAF1	O14727	p.Gln469His	rs1261895310	missense variant	-	NC_000012.12:g.98667557G>C	gnomAD
APAF1	O14727	p.Pro470Leu	rs145393515	missense variant	-	NC_000012.12:g.98667559C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu473Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98667567C>G	NCI-TCGA
APAF1	O14727	p.Pro475Leu	rs369544125	missense variant	-	NC_000012.12:g.98667574C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp476His	rs1446824707	missense variant	-	NC_000012.12:g.98667576G>C	gnomAD
APAF1	O14727	p.Gln477Arg	rs1038164796	missense variant	-	NC_000012.12:g.98667580A>G	TOPMed
APAF1	O14727	p.Glu478Lys	rs775397727	missense variant	-	NC_000012.12:g.98667582G>A	ExAC,gnomAD
APAF1	O14727	p.Glu478LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98667581G>-	NCI-TCGA
APAF1	O14727	p.Asp479Gly	rs373209321	missense variant	-	NC_000012.12:g.98667586A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp479Glu	rs149223130	missense variant	-	NC_000012.12:g.98667587C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Met481Lys	rs563990765	missense variant	-	NC_000012.12:g.98667592T>A	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Met481Leu	rs776110169	missense variant	-	NC_000012.12:g.98667591A>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn485Lys	COSM696224	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98667605C>G	NCI-TCGA Cosmic
APAF1	O14727	p.Ala488Thr	rs750996873	missense variant	-	NC_000012.12:g.98667612G>A	ExAC,gnomAD
APAF1	O14727	p.Tyr489Cys	rs1056152480	missense variant	-	NC_000012.12:g.98667616A>G	TOPMed,gnomAD
APAF1	O14727	p.Met491Val	rs758901927	missense variant	-	NC_000012.12:g.98667621A>G	ExAC,gnomAD
APAF1	O14727	p.Met491Lys	rs1320859195	missense variant	-	NC_000012.12:g.98667622T>A	gnomAD
APAF1	O14727	p.Ala492Thr	rs747796064	missense variant	-	NC_000012.12:g.98667624G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ala492Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98667625C>T	NCI-TCGA
APAF1	O14727	p.Ser493Asn	rs1349490636	missense variant	-	NC_000012.12:g.98667628G>A	gnomAD
APAF1	O14727	p.Ala494Val	rs143963802	missense variant	-	NC_000012.12:g.98667631C>T	ESP,ExAC,TOPMed
APAF1	O14727	p.Lys495Glu	rs906775719	missense variant	-	NC_000012.12:g.98667633A>G	TOPMed
APAF1	O14727	p.Met496Val	rs755284995	missense variant	-	NC_000012.12:g.98667636A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.His497Tyr	rs781420888	missense variant	-	NC_000012.12:g.98667639C>T	ExAC,gnomAD
APAF1	O14727	p.Lys498Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98667643A>G	NCI-TCGA
APAF1	O14727	p.Ala502Val	rs759895384	missense variant	-	NC_000012.12:g.98670983C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ala502Asp	COSM944895	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98670983C>A	NCI-TCGA Cosmic
APAF1	O14727	p.Met504Val	rs753017289	missense variant	-	NC_000012.12:g.98670988A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Lys511Arg	rs1363656906	missense variant	-	NC_000012.12:g.98671010A>G	TOPMed,gnomAD
APAF1	O14727	p.Ala512Thr	rs756263592	missense variant	-	NC_000012.12:g.98671012G>A	ExAC,gnomAD
APAF1	O14727	p.Lys513Asn	COSM274001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98671017A>C	NCI-TCGA Cosmic
APAF1	O14727	p.Glu515Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98671021G>A	NCI-TCGA
APAF1	O14727	p.Gly518Val	rs1336415243	missense variant	-	NC_000012.12:g.98671031G>T	TOPMed
APAF1	O14727	p.Pro519Ser	rs544766657	missense variant	-	NC_000012.12:g.98671033C>T	gnomAD
APAF1	O14727	p.Ala520Pro	rs1396327023	missense variant	-	NC_000012.12:g.98671036G>C	TOPMed
APAF1	O14727	p.His521Arg	rs146424586	missense variant	-	NC_000012.12:g.98671040A>G	ESP,ExAC,gnomAD
APAF1	O14727	p.His521Tyr	rs757373827	missense variant	-	NC_000012.12:g.98671039C>T	ExAC
APAF1	O14727	p.Glu525Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.98671051G>T	NCI-TCGA
APAF1	O14727	p.Phe526Ile	rs1170726364	missense variant	-	NC_000012.12:g.98671054T>A	TOPMed
APAF1	O14727	p.Tyr529Cys	rs746887648	missense variant	-	NC_000012.12:g.98671064A>G	ExAC,gnomAD
APAF1	O14727	p.Arg530Lys	rs780845725	missense variant	-	NC_000012.12:g.98671067G>A	ExAC,gnomAD
APAF1	O14727	p.His531Arg	rs769307688	missense variant	-	NC_000012.12:g.98671070A>G	ExAC,gnomAD
APAF1	O14727	p.Ile532Val	rs955423331	missense variant	-	NC_000012.12:g.98671072A>G	TOPMed,gnomAD
APAF1	O14727	p.Leu533Gln	rs772870332	missense variant	-	NC_000012.12:g.98671076T>A	ExAC,gnomAD
APAF1	O14727	p.Asp534Gly	rs762479508	missense variant	-	NC_000012.12:g.98671079A>G	ExAC,gnomAD
APAF1	O14727	p.Glu535Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98671082A>G	NCI-TCGA
APAF1	O14727	p.Asp537GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98671081_98671082insA	NCI-TCGA
APAF1	O14727	p.Cys538Ser	rs748879722	missense variant	-	NC_000012.12:g.98671539G>C	ExAC,gnomAD
APAF1	O14727	p.Cys538Arg	rs777293241	missense variant	-	NC_000012.12:g.98671538T>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Val540Ile	rs1261028134	missense variant	-	NC_000012.12:g.98671544G>A	gnomAD
APAF1	O14727	p.Ser541Thr	rs921384110	missense variant	-	NC_000012.12:g.98671548G>C	TOPMed,gnomAD
APAF1	O14727	p.Glu542Lys	rs1171939618	missense variant	-	NC_000012.12:g.98671550G>A	gnomAD
APAF1	O14727	p.Asn543Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98671554A>G	NCI-TCGA
APAF1	O14727	p.Phe544Ile	rs372400613	missense variant	-	NC_000012.12:g.98671556T>A	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Phe547Ile	rs376175905	missense variant	-	NC_000012.12:g.98671565T>A	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu548Ter	rs746426956	stop gained	-	NC_000012.12:g.98671569T>G	ExAC,gnomAD
APAF1	O14727	p.Leu548TyrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98671565T>-	NCI-TCGA
APAF1	O14727	p.Ser549Pro	rs1407835062	missense variant	-	NC_000012.12:g.98671571T>C	gnomAD
APAF1	O14727	p.Gly552Glu	COSM268673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98671581G>A	NCI-TCGA Cosmic
APAF1	O14727	p.His553Tyr	rs772482875	missense variant	-	NC_000012.12:g.98671583C>T	ExAC,gnomAD
APAF1	O14727	p.Leu555Pro	rs776028107	missense variant	-	NC_000012.12:g.98671590T>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly556Arg	rs760954769	missense variant	-	NC_000012.12:g.98671592G>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg557Ter	rs764463198	stop gained	-	NC_000012.12:g.98671595C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg557Gln	rs1221735162	missense variant	-	NC_000012.12:g.98671596G>A	gnomAD
APAF1	O14727	p.Gln558His	rs1265305842	missense variant	-	NC_000012.12:g.98671600G>T	gnomAD
APAF1	O14727	p.Phe560Leu	rs777052879	missense variant	-	NC_000012.12:g.98671606T>A	ExAC,gnomAD
APAF1	O14727	p.Pro561Arg	rs1188259366	missense variant	-	NC_000012.12:g.98671608C>G	gnomAD
APAF1	O14727	p.Pro561Thr	rs1484864510	missense variant	-	NC_000012.12:g.98671607C>A	gnomAD
APAF1	O14727	p.Asn562Asp	rs762122714	missense variant	-	NC_000012.12:g.98671610A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn562Ser	rs1401863373	missense variant	-	NC_000012.12:g.98671611A>G	gnomAD
APAF1	O14727	p.Val564Ile	rs1196625693	missense variant	-	NC_000012.12:g.98671616G>A	gnomAD
APAF1	O14727	p.Gln565His	rs1343756322	missense variant	-	NC_000012.12:g.98671621A>C	TOPMed,gnomAD
APAF1	O14727	p.Gln565Arg	rs758454889	missense variant	-	NC_000012.12:g.98671620A>G	ExAC,gnomAD
APAF1	O14727	p.Gln565Ter	rs1335438800	stop gained	-	NC_000012.12:g.98671619C>T	TOPMed
APAF1	O14727	p.Cys569Tyr	rs767385385	missense variant	-	NC_000012.12:g.98671632G>A	ExAC,gnomAD
APAF1	O14727	p.Pro571Leu	rs752612461	missense variant	-	NC_000012.12:g.98671638C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu572Asp	rs1472965121	missense variant	-	NC_000012.12:g.98671642A>C	TOPMed
APAF1	O14727	p.Tyr577Cys	rs1411422739	missense variant	-	NC_000012.12:g.98671656A>G	TOPMed
APAF1	O14727	p.Tyr577Ter	COSM1365083	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98671657T>G	NCI-TCGA Cosmic
APAF1	O14727	p.Tyr577Ter	rs1285208826	stop gained	-	NC_000012.12:g.98671657T>A	TOPMed,gnomAD
APAF1	O14727	p.Ala584Ser	rs1484102400	missense variant	-	NC_000012.12:g.98671676G>T	TOPMed
APAF1	O14727	p.Lys585Arg	rs199975148	missense variant	-	NC_000012.12:g.98671680A>G	1000Genomes,ExAC
APAF1	O14727	p.Gln586Glu	rs939965305	missense variant	-	NC_000012.12:g.98671682C>G	TOPMed,gnomAD
APAF1	O14727	p.Asp589Asn	rs745404599	missense variant	-	NC_000012.12:g.98671691G>A	ExAC,gnomAD
APAF1	O14727	p.Asp589Gly	rs1490148284	missense variant	-	NC_000012.12:g.98671692A>G	gnomAD
APAF1	O14727	p.Leu593Val	rs1459892805	missense variant	-	NC_000012.12:g.98671703C>G	TOPMed
APAF1	O14727	p.Tyr594Cys	rs61758870	missense variant	-	NC_000012.12:g.98671707A>G	ExAC,gnomAD
APAF1	O14727	p.Tyr594Phe	rs61758870	missense variant	-	NC_000012.12:g.98671707A>T	ExAC,gnomAD
APAF1	O14727	p.Glu596Lys	rs1478166133	missense variant	-	NC_000012.12:g.98671712G>A	gnomAD
APAF1	O14727	p.Ile598Leu	rs768970288	missense variant	-	NC_000012.12:g.98671718A>T	ExAC,gnomAD
APAF1	O14727	p.Asn599Thr	rs1285958255	missense variant	-	NC_000012.12:g.98677427A>C	gnomAD
APAF1	O14727	p.Lys600Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98677430A>C	NCI-TCGA
APAF1	O14727	p.Ile603Phe	rs1356953024	missense variant	-	NC_000012.12:g.98677438A>T	gnomAD
APAF1	O14727	p.Thr604Met	rs771761157	missense variant	-	NC_000012.12:g.98677442C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg608His	rs554955493	missense variant	-	NC_000012.12:g.98677454G>A	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg608Cys	rs916104396	missense variant	-	NC_000012.12:g.98677453C>T	TOPMed,gnomAD
APAF1	O14727	p.Val610Leu	rs1242106810	missense variant	-	NC_000012.12:g.98677459G>C	gnomAD
APAF1	O14727	p.Arg612Cys	rs371897242	missense variant	-	NC_000012.12:g.98677465C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg612His	rs375182344	missense variant	-	NC_000012.12:g.98677466G>A	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Pro613Arg	rs1166261150	missense variant	-	NC_000012.12:g.98677469C>G	gnomAD
APAF1	O14727	p.Thr615Ser	rs1421676580	missense variant	-	NC_000012.12:g.98677474A>T	gnomAD
APAF1	O14727	p.His620Arg	rs1176032182	missense variant	-	NC_000012.12:g.98677490A>G	gnomAD
APAF1	O14727	p.Ala621Gly	rs1404180192	missense variant	-	NC_000012.12:g.98677493C>G	gnomAD
APAF1	O14727	p.Ser624Cys	rs1429891882	missense variant	-	NC_000012.12:g.98677502C>G	TOPMed,gnomAD
APAF1	O14727	p.Glu625Val	rs73142307	missense variant	-	NC_000012.12:g.98677505A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu625Ala	rs73142307	missense variant	-	NC_000012.12:g.98677505A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp626Asn	rs753712744	missense variant	-	NC_000012.12:g.98677507G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly627Ser	rs1312856356	missense variant	-	NC_000012.12:g.98677510G>A	TOPMed
APAF1	O14727	p.Gln628Ter	rs1262178451	stop gained	-	NC_000012.12:g.98677513C>T	gnomAD
APAF1	O14727	p.Arg629Lys	rs1320897192	missense variant	-	NC_000012.12:g.98677517G>A	TOPMed,gnomAD
APAF1	O14727	p.Arg629Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98677517G>T	NCI-TCGA
APAF1	O14727	p.Ile630Met	rs1202548008	missense variant	-	NC_000012.12:g.98677521A>G	gnomAD
APAF1	O14727	p.Ala631Thr	rs1387174506	missense variant	-	NC_000012.12:g.98677522G>A	TOPMed
APAF1	O14727	p.Ser632Phe	rs761612379	missense variant	-	NC_000012.12:g.98677526C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Lys637Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98677541A>C	NCI-TCGA
APAF1	O14727	p.Leu639Phe	rs765006856	missense variant	-	NC_000012.12:g.98677548A>T	ExAC,gnomAD
APAF1	O14727	p.Gln640Arg	rs140327382	missense variant	-	NC_000012.12:g.98677550A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Phe642Ser	rs761736799	missense variant	-	NC_000012.12:g.98680281T>C	ExAC
APAF1	O14727	p.Ala644Val	rs765058180	missense variant	-	NC_000012.12:g.98680287C>T	ExAC,gnomAD
APAF1	O14727	p.Thr646Ile	rs773038605	missense variant	-	NC_000012.12:g.98680293C>T	ExAC,gnomAD
APAF1	O14727	p.Gly647Ter	COSM944898	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98680295G>T	NCI-TCGA Cosmic
APAF1	O14727	p.Glu648Gln	rs1205407334	missense variant	-	NC_000012.12:g.98680298G>C	TOPMed
APAF1	O14727	p.Lys649Glu	rs1387975195	missense variant	-	NC_000012.12:g.98680301A>G	gnomAD
APAF1	O14727	p.Leu651Val	rs995082570	missense variant	-	NC_000012.12:g.98680307C>G	TOPMed,gnomAD
APAF1	O14727	p.Lys654Met	rs1334793867	missense variant	-	NC_000012.12:g.98680317A>T	gnomAD
APAF1	O14727	p.Ala655Val	rs762608144	missense variant	-	NC_000012.12:g.98680320C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ala655Gly	rs762608144	missense variant	-	NC_000012.12:g.98680320C>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.His656Tyr	rs1311834024	missense variant	-	NC_000012.12:g.98680322C>T	gnomAD
APAF1	O14727	p.Asp658Gly	rs1355090223	missense variant	-	NC_000012.12:g.98680329A>G	TOPMed,gnomAD
APAF1	O14727	p.Asp658Val	rs1355090223	missense variant	-	NC_000012.12:g.98680329A>T	TOPMed,gnomAD
APAF1	O14727	p.Glu659Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.98680331G>T	NCI-TCGA
APAF1	O14727	p.Glu659Lys	COSM1477023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98680331G>A	NCI-TCGA Cosmic
APAF1	O14727	p.Cys662Phe	rs545873173	missense variant	-	NC_000012.12:g.98680341G>T	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Cys663Ter	rs751106475	stop gained	-	NC_000012.12:g.98680345T>A	ExAC,gnomAD
APAF1	O14727	p.Phe665Leu	rs1210494090	missense variant	-	NC_000012.12:g.98680349T>C	gnomAD
APAF1	O14727	p.Ser666Cys	COSM1477024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98680353C>G	NCI-TCGA Cosmic
APAF1	O14727	p.Asp668Val	rs753320288	missense variant	-	NC_000012.12:g.98680359A>T	ExAC,gnomAD
APAF1	O14727	p.Asp669Asn	rs1343656146	missense variant	-	NC_000012.12:g.98680361G>A	TOPMed
APAF1	O14727	p.Asp669Val	rs756655231	missense variant	-	NC_000012.12:g.98680362A>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg670Lys	rs914658027	missense variant	-	NC_000012.12:g.98680365G>A	TOPMed,gnomAD
APAF1	O14727	p.Ile672Val	rs778044060	missense variant	-	NC_000012.12:g.98680370A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ala673Thr	rs1192389390	missense variant	-	NC_000012.12:g.98680373G>A	TOPMed,gnomAD
APAF1	O14727	p.Thr674Ala	rs1429896032	missense variant	-	NC_000012.12:g.98680376A>G	gnomAD
APAF1	O14727	p.Val677Leu	rs757500870	missense variant	-	NC_000012.12:g.98680385G>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Val677Met	rs757500870	missense variant	-	NC_000012.12:g.98680385G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp678Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98680388G>A	NCI-TCGA
APAF1	O14727	p.Lys679Arg	rs1163276261	missense variant	-	NC_000012.12:g.98680392A>G	TOPMed,gnomAD
APAF1	O14727	p.Lys680Gln	COSM944899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98680394A>C	NCI-TCGA Cosmic
APAF1	O14727	p.Lys680Asn	rs988423435	missense variant	-	NC_000012.12:g.98680396A>C	TOPMed,gnomAD
APAF1	O14727	p.Asn685Ser	rs764355213	missense variant	-	NC_000012.12:g.98683150A>G	TOPMed,gnomAD
APAF1	O14727	p.Ser686Thr	rs757702293	missense variant	-	NC_000012.12:g.98683152T>A	ExAC,gnomAD
APAF1	O14727	p.Ser686Tyr	COSM3813297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98683153C>A	NCI-TCGA Cosmic
APAF1	O14727	p.Met687Val	rs779144426	missense variant	-	NC_000012.12:g.98683155A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly689Glu	rs1214032614	missense variant	-	NC_000012.12:g.98683162G>A	TOPMed
APAF1	O14727	p.Glu690Asp	rs780203359	missense variant	-	NC_000012.12:g.98683166A>T	ExAC,gnomAD
APAF1	O14727	p.Glu690Gln	rs758597432	missense variant	-	NC_000012.12:g.98683164G>C	ExAC,gnomAD
APAF1	O14727	p.Glu690Lys	COSM6138714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98683164G>A	NCI-TCGA Cosmic
APAF1	O14727	p.Leu691Val	rs1331761793	missense variant	-	NC_000012.12:g.98683167C>G	gnomAD
APAF1	O14727	p.Val692Ala	rs768551064	missense variant	-	NC_000012.12:g.98683171T>C	ExAC,gnomAD
APAF1	O14727	p.His693Tyr	rs1292515698	missense variant	-	NC_000012.12:g.98683173C>T	TOPMed
APAF1	O14727	p.Thr694Ser	rs1484208059	missense variant	-	NC_000012.12:g.98683177C>G	gnomAD
APAF1	O14727	p.Tyr695Cys	rs773212660	missense variant	-	NC_000012.12:g.98683180A>G	ExAC,gnomAD
APAF1	O14727	p.Tyr695Phe	rs773212660	missense variant	-	NC_000012.12:g.98683180A>T	ExAC,gnomAD
APAF1	O14727	p.Asp696His	rs547042610	missense variant	-	NC_000012.12:g.98683182G>C	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Glu697Lys	rs774252639	missense variant	-	NC_000012.12:g.98683185G>A	ExAC,gnomAD
APAF1	O14727	p.His698Arg	rs1479880814	missense variant	-	NC_000012.12:g.98683189A>G	gnomAD
APAF1	O14727	p.Gln701Glu	rs771871531	missense variant	-	NC_000012.12:g.98683197C>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn703Ser	rs375497407	missense variant	-	NC_000012.12:g.98683204A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Cys704Tyr	rs1277747453	missense variant	-	NC_000012.12:g.98683207G>A	TOPMed
APAF1	O14727	p.Cys705Ter	rs760249414	stop gained	-	NC_000012.12:g.98683211C>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser710Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98683224A>G	NCI-TCGA
APAF1	O14727	p.Ser711Asn	rs757675000	missense variant	-	NC_000012.12:g.98683228G>A	ExAC,gnomAD
APAF1	O14727	p.Ser711Ile	rs757675000	missense variant	-	NC_000012.12:g.98683228G>T	ExAC,gnomAD
APAF1	O14727	p.His712Tyr	rs754439819	missense variant	-	NC_000012.12:g.98683230C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.His712Gln	rs762198187	missense variant	-	NC_000012.12:g.98683232T>A	ExAC,gnomAD
APAF1	O14727	p.His712Arg	rs1345151023	missense variant	-	NC_000012.12:g.98683231A>G	gnomAD
APAF1	O14727	p.His713Gln	rs765639224	missense variant	-	NC_000012.12:g.98683235T>A	ExAC,gnomAD
APAF1	O14727	p.Leu714Pro	rs1273605038	missense variant	-	NC_000012.12:g.98683237T>C	TOPMed,gnomAD
APAF1	O14727	p.Thr718Ser	rs750808870	missense variant	-	NC_000012.12:g.98683249C>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly719Arg	COSM4045596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98683251G>A	NCI-TCGA Cosmic
APAF1	O14727	p.Cys723Tyr	rs758724237	missense variant	-	NC_000012.12:g.98683264G>A	ExAC,gnomAD
APAF1	O14727	p.Phe724Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98683268C>A	NCI-TCGA
APAF1	O14727	p.Lys726Arg	rs751721415	missense variant	-	NC_000012.12:g.98683273A>G	ExAC,gnomAD
APAF1	O14727	p.Trp728Arg	rs1236679061	missense variant	-	NC_000012.12:g.98686751T>C	gnomAD
APAF1	O14727	p.Asn731Ser	rs1159830268	missense variant	-	NC_000012.12:g.98686761A>G	gnomAD
APAF1	O14727	p.Glu734Gly	rs371385003	missense variant	-	NC_000012.12:g.98686770A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu734Ter	COSM3813298	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98686769G>T	NCI-TCGA Cosmic
APAF1	O14727	p.Arg736Ter	rs150355642	stop gained	-	NC_000012.12:g.98686775C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg736Leu	rs751875283	missense variant	-	NC_000012.12:g.98686776G>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg736Gln	rs751875283	missense variant	-	NC_000012.12:g.98686776G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg736Gly	rs150355642	missense variant	-	NC_000012.12:g.98686775C>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn737Thr	rs1349514649	missense variant	-	NC_000012.12:g.98686779A>C	TOPMed
APAF1	O14727	p.Thr738Asn	rs1441682462	missense variant	-	NC_000012.12:g.98686782C>A	gnomAD
APAF1	O14727	p.Met739Ile	rs1196634330	missense variant	-	NC_000012.12:g.98686786G>A	TOPMed,gnomAD
APAF1	O14727	p.Met739Val	rs1329531937	missense variant	-	NC_000012.12:g.98686784A>G	TOPMed,gnomAD
APAF1	O14727	p.Met739Leu	rs1329531937	missense variant	-	NC_000012.12:g.98686784A>C	TOPMed,gnomAD
APAF1	O14727	p.Met739Thr	rs138068283	missense variant	-	NC_000012.12:g.98686785T>C	ESP,ExAC
APAF1	O14727	p.Thr743Ile	rs1377038331	missense variant	-	NC_000012.12:g.98686797C>T	gnomAD
APAF1	O14727	p.Ser745Leu	rs372234984	missense variant	-	NC_000012.12:g.98686803C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn747Ser	rs752738676	missense variant	-	NC_000012.12:g.98686809A>G	ExAC,gnomAD
APAF1	O14727	p.His748Arg	rs756177170	missense variant	-	NC_000012.12:g.98686812A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg750Lys	RCV000624564	missense variant	Inborn genetic diseases	NC_000012.12:g.98686818G>A	ClinVar
APAF1	O14727	p.Arg750Lys	rs1555218231	missense variant	-	NC_000012.12:g.98686818G>A	-
APAF1	O14727	p.Asp754Glu	COSM4045601	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98686831T>G	NCI-TCGA Cosmic
APAF1	O14727	p.Asp755Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98686833A>G	NCI-TCGA
APAF1	O14727	p.Lys756Met	rs745791119	missense variant	-	NC_000012.12:g.98686836A>T	ExAC,gnomAD
APAF1	O14727	p.Gly765Ala	rs746728734	missense variant	-	NC_000012.12:g.98686863G>C	ExAC,gnomAD
APAF1	O14727	p.Thr766Pro	rs1459426851	missense variant	-	NC_000012.12:g.98686865A>C	gnomAD
APAF1	O14727	p.Thr766Asn	rs949895875	missense variant	-	NC_000012.12:g.98686866C>A	gnomAD
APAF1	O14727	p.Thr766Ile	rs949895875	missense variant	-	NC_000012.12:g.98686866C>T	gnomAD
APAF1	O14727	p.Asp771Asn	rs1351972494	missense variant	-	NC_000012.12:g.98699414G>A	TOPMed,gnomAD
APAF1	O14727	p.Ala772Val	rs758392274	missense variant	-	NC_000012.12:g.98699418C>T	ExAC,gnomAD
APAF1	O14727	p.Thr773Ala	rs746811712	missense variant	-	NC_000012.12:g.98699420A>G	ExAC,gnomAD
APAF1	O14727	p.Asn776His	rs1426054825	missense variant	-	NC_000012.12:g.98699429A>C	TOPMed,gnomAD
APAF1	O14727	p.Glu777Lys	rs138526583	missense variant	-	NC_000012.12:g.98699432G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu777Asp	rs1265709632	missense variant	-	NC_000012.12:g.98699434G>C	TOPMed,gnomAD
APAF1	O14727	p.Lys779Arg	rs780723168	missense variant	-	NC_000012.12:g.98699439A>G	ExAC,gnomAD
APAF1	O14727	p.Ser780Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98699442G>T	NCI-TCGA
APAF1	O14727	p.Ile781Val	rs747821940	missense variant	-	NC_000012.12:g.98699444A>G	ExAC,gnomAD
APAF1	O14727	p.Asn782Thr	rs117235991	missense variant	-	NC_000012.12:g.98699448A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn782Lys	rs772678360	missense variant	-	NC_000012.12:g.98699449T>A	ExAC,gnomAD
APAF1	O14727	p.Gln785Arg	rs774877020	missense variant	-	NC_000012.12:g.98699457A>G	ExAC,gnomAD
APAF1	O14727	p.Phe786Leu	rs889240648	missense variant	-	NC_000012.12:g.98699461C>G	-
APAF1	O14727	p.Phe787SerPheSerTerUnk	COSM1365087	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98699461C>-	NCI-TCGA Cosmic
APAF1	O14727	p.Leu788Val	rs528458271	missense variant	-	NC_000012.12:g.98699465C>G	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Asn789Tyr	COSM1365088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98699468A>T	NCI-TCGA Cosmic
APAF1	O14727	p.Pro793Arg	rs943472496	missense variant	-	NC_000012.12:g.98699481C>G	TOPMed,gnomAD
APAF1	O14727	p.Pro793Thr	rs767861971	missense variant	-	NC_000012.12:g.98699480C>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Pro793Leu	rs943472496	missense variant	-	NC_000012.12:g.98699481C>T	TOPMed,gnomAD
APAF1	O14727	p.Glu795Gln	rs181546874	missense variant	-	NC_000012.12:g.98699486G>C	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu795Gln	RCV000623514	missense variant	Inborn genetic diseases	NC_000012.12:g.98699486G>C	ClinVar
APAF1	O14727	p.Met797Thr	rs942746028	missense variant	-	NC_000012.12:g.98699493T>C	TOPMed
APAF1	O14727	p.Met797Val	rs764323516	missense variant	-	NC_000012.12:g.98699492A>G	ExAC,gnomAD
APAF1	O14727	p.Ile800Leu	rs139083690	missense variant	-	NC_000012.12:g.98699501A>T	ESP
APAF1	O14727	p.Ile800Met	rs372032284	missense variant	-	NC_000012.12:g.98699503A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Val801Ala	rs1265368365	missense variant	-	NC_000012.12:g.98699505T>C	gnomAD
APAF1	O14727	p.Ser805Leu	rs375207439	missense variant	-	NC_000012.12:g.98699517C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser805Ter	rs375207439	stop gained	-	NC_000012.12:g.98699517C>A	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Trp806Arg	rs754789767	missense variant	-	NC_000012.12:g.98699519T>C	ExAC,gnomAD
APAF1	O14727	p.Ala808Pro	rs747836791	missense variant	-	NC_000012.12:g.98699525G>C	ExAC,gnomAD
APAF1	O14727	p.Ala808Asp	rs755740436	missense variant	-	NC_000012.12:g.98699526C>A	ExAC,gnomAD
APAF1	O14727	p.Asp809Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98699528G>A	NCI-TCGA
APAF1	O14727	p.Arg812Ser	rs777352704	missense variant	-	NC_000012.12:g.98699539G>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Met814Ile	rs1361940729	missense variant	-	NC_000012.12:g.98699545G>C	TOPMed,gnomAD
APAF1	O14727	p.Met814Val	rs1438877391	missense variant	-	NC_000012.12:g.98699543A>G	gnomAD
APAF1	O14727	p.Met814Ile	rs1361940729	missense variant	-	NC_000012.12:g.98699545G>A	TOPMed,gnomAD
APAF1	O14727	p.Val815Gly	rs903003824	missense variant	-	NC_000012.12:g.98699547T>G	TOPMed,gnomAD
APAF1	O14727	p.Ala816Glu	rs1322540971	missense variant	-	NC_000012.12:g.98699550C>A	gnomAD
APAF1	O14727	p.Ala816Ser	rs770359398	missense variant	-	NC_000012.12:g.98699549G>T	ExAC,gnomAD
APAF1	O14727	p.Lys818Glu	rs779299447	missense variant	-	NC_000012.12:g.98699555A>G	ExAC,gnomAD
APAF1	O14727	p.Lys818Arg	rs746385368	missense variant	-	NC_000012.12:g.98699556A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn819Ile	rs772365446	missense variant	-	NC_000012.12:g.98699559A>T	ExAC,gnomAD
APAF1	O14727	p.Ile821LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98699564_98699565insAAGAAAAAGTT	NCI-TCGA
APAF1	O14727	p.Ile821Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98699564A>G	NCI-TCGA
APAF1	O14727	p.Phe824Leu	rs1446559673	missense variant	-	NC_000012.12:g.98703376T>G	gnomAD
APAF1	O14727	p.Phe824Tyr	rs986611316	missense variant	-	NC_000012.12:g.98703375T>A	TOPMed
APAF1	O14727	p.Asp825Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98703377G>T	NCI-TCGA
APAF1	O14727	p.Ile826Val	rs746413382	missense variant	-	NC_000012.12:g.98703380A>G	ExAC,gnomAD
APAF1	O14727	p.His827Asn	rs988787535	missense variant	-	NC_000012.12:g.98703383C>A	TOPMed
APAF1	O14727	p.His827Tyr	rs988787535	missense variant	-	NC_000012.12:g.98703383C>T	TOPMed
APAF1	O14727	p.Ser829Cys	COSM6074174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98703389A>T	NCI-TCGA Cosmic
APAF1	O14727	p.Leu831Val	rs772659675	missense variant	-	NC_000012.12:g.98703395C>G	ExAC,gnomAD
APAF1	O14727	p.Gly833Ala	rs1358771338	missense variant	-	NC_000012.12:g.98703402G>C	gnomAD
APAF1	O14727	p.His836Arg	rs1370612608	missense variant	-	NC_000012.12:g.98703411A>G	TOPMed
APAF1	O14727	p.His836Tyr	rs748739981	missense variant	-	NC_000012.12:g.98703410C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Thr837Met	rs200461221	missense variant	-	NC_000012.12:g.98703414C>T	ExAC,gnomAD
APAF1	O14727	p.Thr837Arg	rs200461221	missense variant	-	NC_000012.12:g.98703414C>G	ExAC,gnomAD
APAF1	O14727	p.His839Arg	rs1366254921	missense variant	-	NC_000012.12:g.98703420A>G	gnomAD
APAF1	O14727	p.Ser841Asn	rs1473476431	missense variant	-	NC_000012.12:g.98703426G>A	gnomAD
APAF1	O14727	p.Thr842Ile	rs760473774	missense variant	-	NC_000012.12:g.98703429C>T	ExAC,gnomAD
APAF1	O14727	p.Tyr845Ter	rs61742041	stop gained	-	NC_000012.12:g.98703439C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Tyr845His	rs763860807	missense variant	-	NC_000012.12:g.98703437T>C	ExAC,gnomAD
APAF1	O14727	p.Asp847Asn	rs552696308	missense variant	-	NC_000012.12:g.98703443G>A	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Asp847Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98703443G>T	NCI-TCGA
APAF1	O14727	p.Phe848Val	rs577187794	missense variant	-	NC_000012.12:g.98703446T>G	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Phe848Ile	rs577187794	missense variant	-	NC_000012.12:g.98703446T>A	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser849Phe	rs757781136	missense variant	-	NC_000012.12:g.98703450C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser849Tyr	rs757781136	missense variant	-	NC_000012.12:g.98703450C>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Pro850Ala	rs1277817599	missense variant	-	NC_000012.12:g.98703452C>G	TOPMed,gnomAD
APAF1	O14727	p.Pro850Ser	rs1277817599	missense variant	-	NC_000012.12:g.98703452C>T	TOPMed,gnomAD
APAF1	O14727	p.Ser860Phe	rs1330866440	missense variant	-	NC_000012.12:g.98703483C>T	TOPMed
APAF1	O14727	p.Cys863Arg	rs1046589664	missense variant	-	NC_000012.12:g.98703491T>C	TOPMed,gnomAD
APAF1	O14727	p.Cys863Tyr	rs1314286419	missense variant	-	NC_000012.12:g.98703492G>A	TOPMed
APAF1	O14727	p.Cys863Gly	rs1046589664	missense variant	-	NC_000012.12:g.98703491T>G	TOPMed,gnomAD
APAF1	O14727	p.Asn868His	rs935330987	missense variant	-	NC_000012.12:g.98706491A>C	TOPMed
APAF1	O14727	p.Ser871Leu	rs145807191	missense variant	-	NC_000012.12:g.98706501C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg872His	rs139940389	missense variant	-	NC_000012.12:g.98706504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg872Gly	rs763928339	missense variant	-	NC_000012.12:g.98706503C>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg872Cys	rs763928339	missense variant	-	NC_000012.12:g.98706503C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser873Ter	rs1211021082	stop gained	-	NC_000012.12:g.98706507C>G	gnomAD
APAF1	O14727	p.Cys878Arg	rs761477565	missense variant	-	NC_000012.12:g.98706521T>C	ExAC,gnomAD
APAF1	O14727	p.Gly880Arg	rs764952058	missense variant	-	NC_000012.12:g.98706527G>A	ExAC,gnomAD
APAF1	O14727	p.His881Arg	rs749986237	missense variant	-	NC_000012.12:g.98706531A>G	ExAC,gnomAD
APAF1	O14727	p.Trp884Cys	rs1185700637	missense variant	-	NC_000012.12:g.98706541G>C	gnomAD
APAF1	O14727	p.Val888Gly	rs765984453	missense variant	-	NC_000012.12:g.98706552T>G	ExAC,gnomAD
APAF1	O14727	p.Pro892Ser	rs752153806	missense variant	-	NC_000012.12:g.98706563C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly894Glu	rs61757705	missense variant	-	NC_000012.12:g.98706570G>A	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu898Val	rs199525775	missense variant	-	NC_000012.12:g.98706581T>G	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Ser900Thr	rs1158549284	missense variant	-	NC_000012.12:g.98706587T>A	gnomAD
APAF1	O14727	p.Asp902Gly	rs1401919701	missense variant	-	NC_000012.12:g.98706594A>G	gnomAD
APAF1	O14727	p.Asp902Asn	rs1358745830	missense variant	-	NC_000012.12:g.98706593G>A	gnomAD
APAF1	O14727	p.Asp902Tyr	rs1358745830	missense variant	-	NC_000012.12:g.98706593G>T	gnomAD
APAF1	O14727	p.Lys912Glu	rs751135737	missense variant	-	NC_000012.12:g.98708597A>G	ExAC,gnomAD
APAF1	O14727	p.Lys912Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98708599G>T	NCI-TCGA
APAF1	O14727	p.Val914Ala	rs759075433	missense variant	-	NC_000012.12:g.98708604T>C	ExAC,gnomAD
APAF1	O14727	p.Val920Ala	rs1300938565	missense variant	-	NC_000012.12:g.98708622T>C	TOPMed
APAF1	O14727	p.Met921Thr	rs1037139719	missense variant	-	NC_000012.12:g.98708625T>C	TOPMed,gnomAD
APAF1	O14727	p.Val926Leu	rs1236890095	missense variant	-	NC_000012.12:g.98708639G>T	gnomAD
APAF1	O14727	p.Asp927Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98708643A>G	NCI-TCGA
APAF1	O14727	p.Val928Ile	rs1177878843	missense variant	-	NC_000012.12:g.98708645G>A	TOPMed,gnomAD
APAF1	O14727	p.Val928Ala	rs527785409	missense variant	-	NC_000012.12:g.98708646T>C	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln931His	rs779069813	missense variant	-	NC_000012.12:g.98708656A>C	ExAC,gnomAD
APAF1	O14727	p.Gln931Leu	rs757495661	missense variant	-	NC_000012.12:g.98708655A>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln931Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.98708654C>T	NCI-TCGA
APAF1	O14727	p.Glu932Ter	COSM944903	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98708657G>T	NCI-TCGA Cosmic
APAF1	O14727	p.Met936Ile	rs745954515	missense variant	-	NC_000012.12:g.98708671G>A	ExAC,gnomAD
APAF1	O14727	p.Met936Leu	NCI-TCGA novel	insertion	-	NC_000012.12:g.98708671_98708672insCTA	NCI-TCGA
APAF1	O14727	p.Val937Ala	rs772086661	missense variant	-	NC_000012.12:g.98708673T>C	ExAC,gnomAD
APAF1	O14727	p.Val937Asp	rs772086661	missense variant	-	NC_000012.12:g.98708673T>A	ExAC,gnomAD
APAF1	O14727	p.Val937GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98708672_98708673insAAAGGTT	NCI-TCGA
APAF1	O14727	p.Leu938Phe	rs1403684533	missense variant	-	NC_000012.12:g.98708675C>T	TOPMed
APAF1	O14727	p.Ile943Met	rs762784665	missense variant	-	NC_000012.12:g.98708692A>G	ExAC,gnomAD
APAF1	O14727	p.Ile943Arg	rs1280035474	missense variant	-	NC_000012.12:g.98708691T>G	TOPMed,gnomAD
APAF1	O14727	p.Ile943Lys	rs1280035474	missense variant	-	NC_000012.12:g.98708691T>A	TOPMed,gnomAD
APAF1	O14727	p.Arg945Leu	rs146420669	missense variant	-	NC_000012.12:g.98708697G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg945His	rs146420669	missense variant	-	NC_000012.12:g.98708697G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg945Cys	rs774076296	missense variant	-	NC_000012.12:g.98708696C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu946Val	rs1210750547	missense variant	-	NC_000012.12:g.98708699C>G	gnomAD
APAF1	O14727	p.Gln947Arg	rs1198449155	missense variant	-	NC_000012.12:g.98708703A>G	gnomAD
APAF1	O14727	p.Leu948Phe	rs771652223	missense variant	-	NC_000012.12:g.98712319C>T	ExAC,gnomAD
APAF1	O14727	p.Ile949Val	rs1244055611	missense variant	-	NC_000012.12:g.98712322A>G	TOPMed,gnomAD
APAF1	O14727	p.Gly951Arg	rs1476273292	missense variant	-	NC_000012.12:g.98712328G>A	gnomAD
APAF1	O14727	p.Gly951Glu	rs201911170	missense variant	-	NC_000012.12:g.98712329G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Thr953Arg	rs777065914	missense variant	-	NC_000012.12:g.98712335C>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Thr953Ile	rs777065914	missense variant	-	NC_000012.12:g.98712335C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Thr953Ala	rs763464521	missense variant	-	NC_000012.12:g.98712334A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly954Cys	rs1398831485	missense variant	-	NC_000012.12:g.98712337G>T	gnomAD
APAF1	O14727	p.Gly954Val	rs140836008	missense variant	-	NC_000012.12:g.98712338G>T	TOPMed,gnomAD
APAF1	O14727	p.Gly954Asp	rs140836008	missense variant	-	NC_000012.12:g.98712338G>A	TOPMed,gnomAD
APAF1	O14727	p.Gln955His	rs1431964456	missense variant	-	NC_000012.12:g.98712342G>C	gnomAD
APAF1	O14727	p.Tyr958Asp	rs762223867	missense variant	-	NC_000012.12:g.98712349T>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Val964Ile	rs1429607769	missense variant	-	NC_000012.12:g.98712367G>A	TOPMed
APAF1	O14727	p.Ser965Asn	rs1237211013	missense variant	-	NC_000012.12:g.98712371G>A	gnomAD
APAF1	O14727	p.Cys966Arg	rs750688002	missense variant	-	NC_000012.12:g.98712373T>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln974Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.98712397C>T	NCI-TCGA
APAF1	O14727	p.Gln974SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98712397C>-	NCI-TCGA
APAF1	O14727	p.Ile976Leu	rs1214460415	missense variant	-	NC_000012.12:g.98712403A>C	gnomAD
APAF1	O14727	p.Ala984Thr	rs1447748369	missense variant	-	NC_000012.12:g.98712427G>A	gnomAD
APAF1	O14727	p.Ala984Val	rs751620088	missense variant	-	NC_000012.12:g.98712428C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ala984Gly	rs751620088	missense variant	-	NC_000012.12:g.98712428C>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile987Val	rs771655993	missense variant	-	NC_000012.12:g.98715427A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu989Ter	rs746515411	stop gained	-	NC_000012.12:g.98715433G>T	ExAC,gnomAD
APAF1	O14727	p.Glu989Asp	rs768199255	missense variant	-	NC_000012.12:g.98715435A>C	ExAC,gnomAD
APAF1	O14727	p.Val991Leu	rs1179538281	missense variant	-	NC_000012.12:g.98715439G>T	gnomAD
APAF1	O14727	p.Val991Ile	rs1179538281	missense variant	-	NC_000012.12:g.98715439G>A	gnomAD
APAF1	O14727	p.Val991GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98715440T>-	NCI-TCGA
APAF1	O14727	p.Asn992ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98715441A>-	NCI-TCGA
APAF1	O14727	p.Asn993Ser	rs201541593	missense variant	-	NC_000012.12:g.98715446A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asn993Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98715446A>T	NCI-TCGA
APAF1	O14727	p.Asn993Asp	rs1365089266	missense variant	-	NC_000012.12:g.98715445A>G	gnomAD
APAF1	O14727	p.Ile995Phe	rs765642913	missense variant	-	NC_000012.12:g.98715451A>T	ExAC,gnomAD
APAF1	O14727	p.Phe996Leu	rs1391745806	missense variant	-	NC_000012.12:g.98715456C>G	gnomAD
APAF1	O14727	p.Arg999Gly	rs773591717	missense variant	-	NC_000012.12:g.98715463A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg999Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98715464G>T	NCI-TCGA
APAF1	O14727	p.Gln1001Arg	rs763334786	missense variant	-	NC_000012.12:g.98715470A>G	ExAC,gnomAD
APAF1	O14727	p.His1002Arg	rs201122276	missense variant	-	NC_000012.12:g.98715473A>G	1000Genomes,ExAC
APAF1	O14727	p.Lys1003Glu	rs367942061	missense variant	-	NC_000012.12:g.98715475A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Lys1003Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98715477G>T	NCI-TCGA
APAF1	O14727	p.Lys1004Glu	rs1309756637	missense variant	-	NC_000012.12:g.98715478A>G	gnomAD
APAF1	O14727	p.Trp1007Arg	rs753865642	missense variant	-	NC_000012.12:g.98715487T>C	ExAC,gnomAD
APAF1	O14727	p.Gln1010His	rs1294233498	missense variant	-	NC_000012.12:g.98715498G>T	TOPMed
APAF1	O14727	p.Phe1011Leu	rs865856278	missense variant	-	NC_000012.12:g.98715499T>C	gnomAD
APAF1	O14727	p.Thr1012Ile	rs1337144915	missense variant	-	NC_000012.12:g.98715503C>T	gnomAD
APAF1	O14727	p.Asp1014Glu	rs1457139942	missense variant	-	NC_000012.12:g.98715510T>A	gnomAD
APAF1	O14727	p.Asp1014Asn	rs745664662	missense variant	-	NC_000012.12:g.98715508G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu1015Lys	rs1310365747	missense variant	-	NC_000012.12:g.98715511G>A	TOPMed
APAF1	O14727	p.Lys1016Asn	rs566445624	missense variant	-	NC_000012.12:g.98715516G>C	ExAC,gnomAD
APAF1	O14727	p.Leu1018Val	rs560213908	missense variant	-	NC_000012.12:g.98715520C>G	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Ile1019Thr	rs749487254	missense variant	-	NC_000012.12:g.98715524T>C	TOPMed
APAF1	O14727	p.Ser1021Asn	rs1041072160	missense variant	-	NC_000012.12:g.98715530G>A	TOPMed
APAF1	O14727	p.Ser1022Pro	rs527314665	missense variant	-	NC_000012.12:g.98715532T>C	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp1023Tyr	rs372125027	missense variant	-	NC_000012.12:g.98715535G>T	ESP,ExAC,gnomAD
APAF1	O14727	p.Asp1024Ala	rs1423412865	missense variant	-	NC_000012.12:g.98715539A>C	gnomAD
APAF1	O14727	p.Ala1025Val	rs77127123	missense variant	-	NC_000012.12:g.98715542C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ala1025Gly	rs77127123	missense variant	-	NC_000012.12:g.98715542C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ala1025Asp	rs77127123	missense variant	-	NC_000012.12:g.98715542C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile1027Met	rs1488705546	missense variant	-	NC_000012.12:g.98715549T>G	TOPMed,gnomAD
APAF1	O14727	p.Val1029Ile	rs1172295929	missense variant	-	NC_000012.12:g.98723193G>A	gnomAD
APAF1	O14727	p.Trp1030Cys	rs769232906	missense variant	-	NC_000012.12:g.98723198G>T	ExAC,gnomAD
APAF1	O14727	p.Trp1030Arg	rs1377417508	missense variant	-	NC_000012.12:g.98723196T>C	TOPMed,gnomAD
APAF1	O14727	p.Asn1031Asp	rs1297826286	missense variant	-	NC_000012.12:g.98723199A>G	gnomAD
APAF1	O14727	p.Trp1032Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.98723204G>A	NCI-TCGA
APAF1	O14727	p.Leu1034Phe	rs1297404420	missense variant	-	NC_000012.12:g.98723210G>T	gnomAD
APAF1	O14727	p.Asp1035Gly	rs771239250	missense variant	-	NC_000012.12:g.98723212A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp1035Asn	rs1326772970	missense variant	-	NC_000012.12:g.98723211G>A	gnomAD
APAF1	O14727	p.Cys1037Tyr	rs891427283	missense variant	-	NC_000012.12:g.98723218G>A	TOPMed,gnomAD
APAF1	O14727	p.Cys1037Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98723218G>T	NCI-TCGA
APAF1	O14727	p.Ile1038Val	rs146238655	missense variant	-	NC_000012.12:g.98723220A>G	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg1041Ter	rs139016212	stop gained	-	NC_000012.12:g.98723229C>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg1041Gln	rs1284880203	missense variant	-	NC_000012.12:g.98723230G>A	TOPMed,gnomAD
APAF1	O14727	p.His1043Gln	rs1188686896	missense variant	-	NC_000012.12:g.98723237T>G	gnomAD
APAF1	O14727	p.His1043Arg	COSM4911163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98723236A>G	NCI-TCGA Cosmic
APAF1	O14727	p.His1043Asp	rs1484658397	missense variant	-	NC_000012.12:g.98723235C>G	gnomAD
APAF1	O14727	p.Lys1048Gln	rs1174338455	missense variant	-	NC_000012.12:g.98723250A>C	TOPMed
APAF1	O14727	p.Phe1050Ile	rs1365471845	missense variant	-	NC_000012.12:g.98723256T>A	gnomAD
APAF1	O14727	p.Asn1055Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98723271A>G	NCI-TCGA
APAF1	O14727	p.Arg1057Gly	rs1192380601	missense variant	-	NC_000012.12:g.98723277A>G	gnomAD
APAF1	O14727	p.Ser1062Pro	COSM944908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98723292T>C	NCI-TCGA Cosmic
APAF1	O14727	p.Asp1064Gly	COSM469122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.98723299A>G	NCI-TCGA Cosmic
APAF1	O14727	p.Asp1064His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98723298G>C	NCI-TCGA
APAF1	O14727	p.Lys1068Glu	rs775798433	missense variant	-	NC_000012.12:g.98723310A>G	ExAC,gnomAD
APAF1	O14727	p.Val1069Leu	rs772552908	missense variant	-	NC_000012.12:g.98723639G>T	ExAC,gnomAD
APAF1	O14727	p.Trp1070Leu	rs1324796082	missense variant	-	NC_000012.12:g.98723643G>T	TOPMed
APAF1	O14727	p.Asn1071Thr	rs775922661	missense variant	-	NC_000012.12:g.98723646A>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ile1072Phe	rs1370631738	missense variant	-	NC_000012.12:g.98723648A>T	gnomAD
APAF1	O14727	p.Ile1073Phe	rs945612121	missense variant	-	NC_000012.12:g.98723651A>T	TOPMed,gnomAD
APAF1	O14727	p.Ile1073Val	rs945612121	missense variant	-	NC_000012.12:g.98723651A>G	TOPMed,gnomAD
APAF1	O14727	p.Gly1075Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98723658G>T	NCI-TCGA
APAF1	O14727	p.Asn1076Tyr	rs1333644746	missense variant	-	NC_000012.12:g.98723660A>T	gnomAD
APAF1	O14727	p.Gln1085His	rs761762347	missense variant	-	NC_000012.12:g.98723689G>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gln1085Ter	rs776799189	stop gained	-	NC_000012.12:g.98723687C>T	ExAC,gnomAD
APAF1	O14727	p.Val1088Glu	rs1481331123	missense variant	-	NC_000012.12:g.98723697T>A	TOPMed
APAF1	O14727	p.Leu1089Ile	rs774095537	missense variant	-	NC_000012.12:g.98723699C>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Cys1091Tyr	rs1198087424	missense variant	-	NC_000012.12:g.98723706G>A	TOPMed
APAF1	O14727	p.His1095Asp	rs759382270	missense variant	-	NC_000012.12:g.98723717C>G	ExAC,gnomAD
APAF1	O14727	p.Asp1096Asn	rs538479133	missense variant	-	NC_000012.12:g.98723720G>A	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Lys1099Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98723730A>C	NCI-TCGA
APAF1	O14727	p.Ser1101Leu	rs753417958	missense variant	-	NC_000012.12:g.98723736C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser1101Ala	rs1166212907	missense variant	-	NC_000012.12:g.98723735T>G	gnomAD
APAF1	O14727	p.Ser1102Phe	rs756653729	missense variant	-	NC_000012.12:g.98723739C>T	ExAC,gnomAD
APAF1	O14727	p.Asp1106Gly	rs1354234840	missense variant	-	NC_000012.12:g.98723751A>G	gnomAD
APAF1	O14727	p.Lys1107Glu	rs758874019	missense variant	-	NC_000012.12:g.98723753A>G	ExAC,gnomAD
APAF1	O14727	p.Thr1108Ala	rs780544831	missense variant	-	NC_000012.12:g.98723756A>G	ExAC,gnomAD
APAF1	O14727	p.Ala1109Thr	rs747331633	missense variant	-	NC_000012.12:g.98723759G>A	ExAC,gnomAD
APAF1	O14727	p.Ala1109Glu	rs1347613927	missense variant	-	NC_000012.12:g.98723760C>A	gnomAD
APAF1	O14727	p.Ala1109Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98723760C>T	NCI-TCGA
APAF1	O14727	p.Ile1111Met	rs1215717956	missense variant	-	NC_000012.12:g.98725417C>G	gnomAD
APAF1	O14727	p.Ser1113Asn	rs747384651	missense variant	-	NC_000012.12:g.98725422G>A	ExAC,gnomAD
APAF1	O14727	p.Ser1113Arg	rs1280241646	missense variant	-	NC_000012.12:g.98725421A>C	TOPMed,gnomAD
APAF1	O14727	p.Leu1116Arg	rs138188210	missense variant	-	NC_000012.12:g.98725431T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu1116Pro	rs138188210	missense variant	-	NC_000012.12:g.98725431T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu1116Val	rs755242803	missense variant	-	NC_000012.12:g.98725430C>G	ExAC,gnomAD
APAF1	O14727	p.Leu1116Phe	rs755242803	missense variant	-	NC_000012.12:g.98725430C>T	ExAC,gnomAD
APAF1	O14727	p.Leu1120Ile	rs748311911	missense variant	-	NC_000012.12:g.98725442C>A	ExAC,gnomAD
APAF1	O14727	p.Leu1123Phe	rs1342072892	missense variant	-	NC_000012.12:g.98725453G>T	TOPMed
APAF1	O14727	p.Arg1124Thr	rs769952075	missense variant	-	NC_000012.12:g.98725455G>C	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg1124Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98725455G>A	NCI-TCGA
APAF1	O14727	p.Gly1125Arg	rs777805227	missense variant	-	NC_000012.12:g.98725457G>C	ExAC,gnomAD
APAF1	O14727	p.His1126Arg	rs1394330327	missense variant	-	NC_000012.12:g.98725461A>G	gnomAD
APAF1	O14727	p.Gly1128Ser	rs772027707	missense variant	-	NC_000012.12:g.98725466G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Cys1129Tyr	rs1375709252	missense variant	-	NC_000012.12:g.98725470G>A	gnomAD
APAF1	O14727	p.Cys1129Trp	rs775336955	missense variant	-	NC_000012.12:g.98725471T>G	ExAC,gnomAD
APAF1	O14727	p.Arg1131His	rs753741775	missense variant	-	NC_000012.12:g.98725476G>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Arg1131Cys	rs760531403	missense variant	-	NC_000012.12:g.98725475C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Cys1132Trp	rs1303333746	missense variant	-	NC_000012.12:g.98725480C>G	gnomAD
APAF1	O14727	p.Ser1133Phe	rs963014137	missense variant	-	NC_000012.12:g.98725482C>T	TOPMed
APAF1	O14727	p.Asp1138Tyr	rs776387511	missense variant	-	NC_000012.12:g.98725496G>T	ExAC,gnomAD
APAF1	O14727	p.Asp1138Val	rs1236634608	missense variant	-	NC_000012.12:g.98725497A>T	gnomAD
APAF1	O14727	p.Ser1139Arg	rs764895219	missense variant	-	NC_000012.12:g.98725501T>A	ExAC,gnomAD
APAF1	O14727	p.Ser1139Gly	rs761349739	missense variant	-	NC_000012.12:g.98725499A>G	ExAC,gnomAD
APAF1	O14727	p.Ser1139Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98725500G>C	NCI-TCGA
APAF1	O14727	p.Thr1140Ile	rs1286606399	missense variant	-	NC_000012.12:g.98725503C>T	TOPMed,gnomAD
APAF1	O14727	p.Ala1143Thr	rs1252321441	missense variant	-	NC_000012.12:g.98725511G>A	gnomAD
APAF1	O14727	p.Thr1144Ala	rs762490601	missense variant	-	NC_000012.12:g.98725514A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Thr1144Met	rs767010301	missense variant	-	NC_000012.12:g.98725515C>T	ExAC,gnomAD
APAF1	O14727	p.Asp1146Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98725520G>T	NCI-TCGA
APAF1	O14727	p.Asn1148Ser	rs1183266400	missense variant	-	NC_000012.12:g.98725527A>G	TOPMed,gnomAD
APAF1	O14727	p.Gly1149Glu	rs1322402178	missense variant	-	NC_000012.12:g.98725530G>A	TOPMed
APAF1	O14727	p.Ile1151Phe	rs547672538	missense variant	-	NC_000012.12:g.98725535A>T	1000Genomes,ExAC,gnomAD
APAF1	O14727	p.Trp1154Arg	rs777981927	missense variant	-	NC_000012.12:g.98727176T>A	ExAC,gnomAD
APAF1	O14727	p.Trp1154Arg	rs777981927	missense variant	-	NC_000012.12:g.98727176T>C	ExAC,gnomAD
APAF1	O14727	p.Ser1157Ter	COSM4847904	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98727186C>G	NCI-TCGA Cosmic
APAF1	O14727	p.Gly1159Ser	rs778943117	missense variant	-	NC_000012.12:g.98727191G>A	ExAC,TOPMed
APAF1	O14727	p.Glu1160Asp	rs1389765950	missense variant	-	NC_000012.12:g.98727196G>C	gnomAD
APAF1	O14727	p.Glu1160Lys	rs184890158	missense variant	-	NC_000012.12:g.98727194G>A	1000Genomes,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Leu1161Pro	rs754904382	missense variant	-	NC_000012.12:g.98727198T>C	ExAC,gnomAD
APAF1	O14727	p.His1163Tyr	rs1336392953	missense variant	-	NC_000012.12:g.98727203C>T	TOPMed,gnomAD
APAF1	O14727	p.Ala1166Gly	rs781120511	missense variant	-	NC_000012.12:g.98727213C>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Pro1167Leu	rs761865771	missense variant	-	NC_000012.12:g.98727216C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu1170Gln	rs769703045	missense variant	-	NC_000012.12:g.98727224G>C	ExAC,gnomAD
APAF1	O14727	p.Glu1171Gly	rs773070279	missense variant	-	NC_000012.12:g.98727228A>G	ExAC,gnomAD
APAF1	O14727	p.Thr1175Ile	rs748915330	missense variant	-	NC_000012.12:g.98727240C>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.His1176Leu	rs773754048	missense variant	-	NC_000012.12:g.98727243A>T	ExAC,TOPMed,gnomAD
APAF1	O14727	p.His1176Arg	rs773754048	missense variant	-	NC_000012.12:g.98727243A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Gly1177Glu	rs1254876484	missense variant	-	NC_000012.12:g.98727246G>A	gnomAD
APAF1	O14727	p.Gly1177Arg	rs767913331	missense variant	-	NC_000012.12:g.98727245G>A	ExAC,gnomAD
APAF1	O14727	p.Gly1178Asp	rs776005626	missense variant	-	NC_000012.12:g.98727249G>A	ExAC,gnomAD
APAF1	O14727	p.Leu1183Arg	rs1460953634	missense variant	-	NC_000012.12:g.98727264T>G	TOPMed,gnomAD
APAF1	O14727	p.Cys1184Tyr	rs754108532	missense variant	-	NC_000012.12:g.98727267G>A	ExAC,gnomAD
APAF1	O14727	p.Phe1185Leu	rs1469574620	missense variant	-	NC_000012.12:g.98727269T>C	TOPMed
APAF1	O14727	p.Phe1185Tyr	rs757493517	missense variant	-	NC_000012.12:g.98727270T>A	ExAC,gnomAD
APAF1	O14727	p.Pro1187Ser	rs1434177122	missense variant	-	NC_000012.12:g.98727275C>T	gnomAD
APAF1	O14727	p.Asp1188Gly	rs1311292979	missense variant	-	NC_000012.12:g.98727279A>G	gnomAD
APAF1	O14727	p.Asp1188His	rs1273410681	missense variant	-	NC_000012.12:g.98727278G>C	TOPMed
APAF1	O14727	p.Asp1188Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98727278G>T	NCI-TCGA
APAF1	O14727	p.Gly1189Asp	rs765405502	missense variant	-	NC_000012.12:g.98727282G>A	ExAC,gnomAD
APAF1	O14727	p.Met1191Ile	rs1313217387	missense variant	-	NC_000012.12:g.98727289G>C	gnomAD
APAF1	O14727	p.Ile1193Thr	rs1264214781	missense variant	-	NC_000012.12:g.98727294T>C	TOPMed
APAF1	O14727	p.Ile1193Leu	rs928100789	missense variant	-	NC_000012.12:g.98727293A>C	TOPMed,gnomAD
APAF1	O14727	p.Ala1195Pro	rs1211761456	missense variant	-	NC_000012.12:g.98727299G>C	gnomAD
APAF1	O14727	p.Gly1196Ala	rs1225227362	missense variant	-	NC_000012.12:g.98727303G>C	gnomAD
APAF1	O14727	p.Tyr1198Cys	rs1271853699	missense variant	-	NC_000012.12:g.98727309A>G	gnomAD
APAF1	O14727	p.Lys1200SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98727314A>-	NCI-TCGA
APAF1	O14727	p.Val1204Ile	rs1007216250	missense variant	-	NC_000012.12:g.98732429G>A	TOPMed
APAF1	O14727	p.Val1205Phe	rs758478742	missense variant	-	NC_000012.12:g.98732432G>T	ExAC
APAF1	O14727	p.Thr1206Asn	rs1221336265	missense variant	-	NC_000012.12:g.98732436C>A	TOPMed
APAF1	O14727	p.Thr1206Pro	rs914781090	missense variant	-	NC_000012.12:g.98732435A>C	TOPMed
APAF1	O14727	p.Gly1207Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98732438G>T	NCI-TCGA
APAF1	O14727	p.Glu1208GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.98732437_98732438insG	NCI-TCGA
APAF1	O14727	p.Tyr1214Cys	rs1167283390	missense variant	-	NC_000012.12:g.98732460A>G	TOPMed,gnomAD
APAF1	O14727	p.Gly1217Ter	COSM944909	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.98732468G>T	NCI-TCGA Cosmic
APAF1	O14727	p.Leu1220Phe	rs1199884610	missense variant	-	NC_000012.12:g.98732477C>T	TOPMed
APAF1	O14727	p.Lys1222Glu	rs752622248	missense variant	-	NC_000012.12:g.98732483A>G	ExAC,gnomAD
APAF1	O14727	p.Ile1223Leu	rs756138161	missense variant	-	NC_000012.12:g.98732486A>T	ExAC,gnomAD
APAF1	O14727	p.Ile1223Thr	rs1397034513	missense variant	-	NC_000012.12:g.98732487T>C	gnomAD
APAF1	O14727	p.His1224Asn	rs777810915	missense variant	-	NC_000012.12:g.98732489C>A	ExAC,gnomAD
APAF1	O14727	p.Val1225Met	rs201029707	missense variant	-	NC_000012.12:g.98732492G>A	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Val1225Leu	rs201029707	missense variant	-	NC_000012.12:g.98732492G>T	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Val1225Ala	rs778485671	missense variant	-	NC_000012.12:g.98732493T>C	ExAC,gnomAD
APAF1	O14727	p.Ser1226Cys	rs745529226	missense variant	-	NC_000012.12:g.98732496C>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Ser1226Tyr	rs745529226	missense variant	-	NC_000012.12:g.98732496C>A	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Pro1227Ala	rs1440143134	missense variant	-	NC_000012.12:g.98732498C>G	gnomAD
APAF1	O14727	p.Asp1228His	rs142230441	missense variant	-	NC_000012.12:g.98732501G>C	ESP,ExAC,gnomAD
APAF1	O14727	p.Phe1229Cys	rs902945001	missense variant	-	NC_000012.12:g.98732505T>G	TOPMed
APAF1	O14727	p.Lys1230Arg	rs769157410	missense variant	-	NC_000012.12:g.98732508A>G	ExAC,gnomAD
APAF1	O14727	p.Lys1230Ile	rs769157410	missense variant	-	NC_000012.12:g.98732508A>T	ExAC,gnomAD
APAF1	O14727	p.Lys1230Glu	rs746482334	missense variant	-	NC_000012.12:g.98732507A>G	ExAC,TOPMed,gnomAD
APAF1	O14727	p.Asp1236Ala	rs762226148	missense variant	-	NC_000012.12:g.98732526A>C	ExAC
APAF1	O14727	p.Asp1236Asn	rs1336372390	missense variant	-	NC_000012.12:g.98732525G>A	gnomAD
APAF1	O14727	p.Gly1239Val	rs1269220874	missense variant	-	NC_000012.12:g.98732535G>T	gnomAD
APAF1	O14727	p.Gly1239Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98732535G>A	NCI-TCGA
APAF1	O14727	p.Leu1241Ter	rs1433218417	stop gained	-	NC_000012.12:g.98732541T>A	TOPMed
APAF1	O14727	p.Tyr1242His	rs763208735	missense variant	-	NC_000012.12:g.98732543T>C	ExAC,gnomAD
APAF1	O14727	p.Tyr1242Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.98732544A>G	NCI-TCGA
APAF1	O14727	p.Gln1245Arg	rs1189146612	missense variant	-	NC_000012.12:g.98732553A>G	TOPMed
APAF1	O14727	p.Gln1245Ter	rs1176645020	stop gained	-	NC_000012.12:g.98732552C>T	gnomAD
APAF1	O14727	p.Leu1247Ser	rs369724536	missense variant	-	NC_000012.12:g.98732559T>C	ESP,ExAC,TOPMed,gnomAD
APAF1	O14727	p.Glu1248Gln	rs1160150643	missense variant	-	NC_000012.12:g.98732561G>C	TOPMed,gnomAD
NRP1	O14786	p.Glu2Asp	rs1482222602	missense variant	-	NC_000010.11:g.33334377C>A	gnomAD
NRP1	O14786	p.Arg3Thr	rs866275912	missense variant	-	NC_000010.11:g.33334375C>G	TOPMed
NRP1	O14786	p.Arg3Lys	rs866275912	missense variant	-	NC_000010.11:g.33334375C>T	TOPMed
NRP1	O14786	p.Arg3Ser	rs953208828	missense variant	-	NC_000010.11:g.33334374C>G	TOPMed,gnomAD
NRP1	O14786	p.Arg3Gly	rs757732321	missense variant	-	NC_000010.11:g.33334376T>C	ExAC,gnomAD
NRP1	O14786	p.Leu7Phe	rs1282658453	missense variant	-	NC_000010.11:g.33334364G>A	gnomAD
NRP1	O14786	p.Leu7Pro	rs764282718	missense variant	-	NC_000010.11:g.33334363A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu8Ile	rs760822303	missense variant	-	NC_000010.11:g.33334361G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu8Phe	rs760822303	missense variant	-	NC_000010.11:g.33334361G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Cys9Gly	rs1341197483	missense variant	-	NC_000010.11:g.33334358A>C	TOPMed
NRP1	O14786	p.Leu14Phe	rs1377623827	missense variant	-	NC_000010.11:g.33334343G>A	TOPMed,gnomAD
NRP1	O14786	p.Leu14Val	rs1377623827	missense variant	-	NC_000010.11:g.33334343G>C	TOPMed,gnomAD
NRP1	O14786	p.Leu14Arg	rs1311811089	missense variant	-	NC_000010.11:g.33334342A>C	gnomAD
NRP1	O14786	p.Val15Ala	rs374322029	missense variant	-	NC_000010.11:g.33334339A>G	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu16Ile	rs1166283194	missense variant	-	NC_000010.11:g.33334337G>T	gnomAD
NRP1	O14786	p.Pro18Thr	rs1373477482	missense variant	-	NC_000010.11:g.33334331G>T	gnomAD
NRP1	O14786	p.Ala19Thr	rs1422054694	missense variant	-	NC_000010.11:g.33334328C>T	TOPMed,gnomAD
NRP1	O14786	p.Gly20Ser	rs1255367960	missense variant	-	NC_000010.11:g.33334325C>T	TOPMed,gnomAD
NRP1	O14786	p.Gly20Cys	rs1255367960	missense variant	-	NC_000010.11:g.33334325C>A	TOPMed,gnomAD
NRP1	O14786	p.Ala21Asp	rs1486018391	missense variant	-	NC_000010.11:g.33334321G>T	gnomAD
NRP1	O14786	p.Ala21Thr	rs894220185	missense variant	-	NC_000010.11:g.33334322C>T	gnomAD
NRP1	O14786	p.Arg23Cys	rs770720421	missense variant	-	NC_000010.11:g.33334316G>A	ExAC
NRP1	O14786	p.Asn24Ser	rs1259904998	missense variant	-	NC_000010.11:g.33334312T>C	gnomAD
NRP1	O14786	p.Asn24Asp	rs1174726719	missense variant	-	NC_000010.11:g.33334313T>C	TOPMed
NRP1	O14786	p.Asp25His	rs1338952516	missense variant	-	NC_000010.11:g.33334310C>G	gnomAD
NRP1	O14786	p.Asp29Asn	rs374276976	missense variant	-	NC_000010.11:g.33330871C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp29Val	rs1386346760	missense variant	-	NC_000010.11:g.33330870T>A	gnomAD
NRP1	O14786	p.Ile31Thr	rs867341914	missense variant	-	NC_000010.11:g.33330864A>G	TOPMed,gnomAD
NRP1	O14786	p.Lys32Arg	rs1258659568	missense variant	-	NC_000010.11:g.33330861T>C	TOPMed
NRP1	O14786	p.Ile33Met	rs759708920	missense variant	-	NC_000010.11:g.33330857A>C	ExAC,gnomAD
NRP1	O14786	p.Ser35Asn	rs1184185740	missense variant	-	NC_000010.11:g.33330852C>T	gnomAD
NRP1	O14786	p.Pro36Leu	rs751738413	missense variant	-	NC_000010.11:g.33330849G>A	ExAC
NRP1	O14786	p.Ser41Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33330835A>G	NCI-TCGA
NRP1	O14786	p.Gly43Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33330828C>T	NCI-TCGA
NRP1	O14786	p.Tyr44Phe	rs1270349204	missense variant	-	NC_000010.11:g.33330825T>A	TOPMed
NRP1	O14786	p.Pro45Ser	rs1479432602	missense variant	-	NC_000010.11:g.33330823G>A	TOPMed
NRP1	O14786	p.His46Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33330820G>A	NCI-TCGA
NRP1	O14786	p.Ser47Thr	COSM4013926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33330817A>T	NCI-TCGA Cosmic
NRP1	O14786	p.His49Gln	rs964215241	missense variant	-	NC_000010.11:g.33330809G>C	TOPMed
NRP1	O14786	p.His49Tyr	rs761687731	missense variant	-	NC_000010.11:g.33330811G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro50Ser	rs1402299798	missense variant	-	NC_000010.11:g.33330808G>A	TOPMed
NRP1	O14786	p.Ser51Asn	rs1156630275	missense variant	-	NC_000010.11:g.33330804C>T	TOPMed
NRP1	O14786	p.Lys53Glu	rs776148094	missense variant	-	NC_000010.11:g.33330799T>C	ExAC,gnomAD
NRP1	O14786	p.Cys54Arg	rs768142109	missense variant	-	NC_000010.11:g.33330796A>G	ExAC,gnomAD
NRP1	O14786	p.Glu55Lys	rs1230660558	missense variant	-	NC_000010.11:g.33330793C>T	gnomAD
NRP1	O14786	p.Gln59Glu	rs779741661	missense variant	-	NC_000010.11:g.33330781G>C	ExAC,gnomAD
NRP1	O14786	p.Gln59Arg	rs1303960267	missense variant	-	NC_000010.11:g.33330780T>C	gnomAD
NRP1	O14786	p.Pro61Leu	rs771267477	missense variant	-	NC_000010.11:g.33330774G>A	ExAC,gnomAD
NRP1	O14786	p.Asp62Glu	rs1358919959	missense variant	-	NC_000010.11:g.33330770G>T	TOPMed
NRP1	O14786	p.Pro63Ser	rs1419281327	missense variant	-	NC_000010.11:g.33330769G>A	TOPMed
NRP1	O14786	p.Gln65Arg	rs371886197	missense variant	-	NC_000010.11:g.33330762T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg66Thr	rs1385818807	missense variant	-	NC_000010.11:g.33330759C>G	gnomAD
NRP1	O14786	p.Ile67Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33330755A>C	NCI-TCGA
NRP1	O14786	p.Ile67Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33330757T>A	NCI-TCGA
NRP1	O14786	p.Met68Val	rs781138129	missense variant	-	NC_000010.11:g.33330754T>C	ExAC,gnomAD
NRP1	O14786	p.Met68Ile	rs751789763	missense variant	-	NC_000010.11:g.33330752C>A	ExAC,gnomAD
NRP1	O14786	p.Met68Thr	rs755031065	missense variant	-	NC_000010.11:g.33330753A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile69Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33330749G>C	NCI-TCGA
NRP1	O14786	p.Phe71Leu	COSM1297222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33330743G>C	NCI-TCGA Cosmic
NRP1	O14786	p.Pro73Leu	rs762780832	missense variant	-	NC_000010.11:g.33330738G>A	ExAC,gnomAD
NRP1	O14786	p.His74Leu	rs750237365	missense variant	-	NC_000010.11:g.33330735T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp76Asn	rs1448051089	missense variant	-	NC_000010.11:g.33330730C>T	gnomAD
NRP1	O14786	p.Asp76Gly	rs1285825996	missense variant	-	NC_000010.11:g.33330729T>C	TOPMed,gnomAD
NRP1	O14786	p.Leu77Phe	rs1346722965	missense variant	-	NC_000010.11:g.33330725C>G	gnomAD
NRP1	O14786	p.Arg80Ter	rs1305279518	stop gained	-	NC_000010.11:g.33330718T>A	TOPMed
NRP1	O14786	p.Asp81Tyr	COSM1645679	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33330715C>A	NCI-TCGA Cosmic
NRP1	O14786	p.Lys83Glu	rs775797226	missense variant	-	NC_000010.11:g.33330709T>C	gnomAD
NRP1	O14786	p.Val87Met	rs753783818	missense variant	-	NC_000010.11:g.33270846C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp91Asn	rs533652148	missense variant	-	NC_000010.11:g.33270834C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu95Lys	rs1401090199	missense variant	-	NC_000010.11:g.33270822C>T	gnomAD
NRP1	O14786	p.Asn96Ser	rs767096379	missense variant	-	NC_000010.11:g.33270818T>C	ExAC
NRP1	O14786	p.Asn96Tyr	rs775089363	missense variant	-	NC_000010.11:g.33270819T>A	ExAC,gnomAD
NRP1	O14786	p.Gly97Val	rs759268484	missense variant	-	NC_000010.11:g.33270815C>A	ExAC,gnomAD
NRP1	O14786	p.His98Pro	rs1016982339	missense variant	-	NC_000010.11:g.33270812T>G	TOPMed
NRP1	O14786	p.Phe99LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.33270808A>-	NCI-TCGA
NRP1	O14786	p.Arg100Met	rs1163348245	missense variant	-	NC_000010.11:g.33270806C>A	gnomAD
NRP1	O14786	p.Arg100Lys	COSM3437425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33270806C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Gly101Glu	rs200028992	missense variant	-	NC_000010.11:g.33270803C>T	ExAC,gnomAD
NRP1	O14786	p.Lys102Asn	rs770342995	missense variant	-	NC_000010.11:g.33270799C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys106Glu	rs1338361507	missense variant	-	NC_000010.11:g.33270789T>C	TOPMed
NRP1	O14786	p.Ile107Val	rs748521141	missense variant	-	NC_000010.11:g.33270786T>C	ExAC,gnomAD
NRP1	O14786	p.Ile107Leu	rs748521141	missense variant	-	NC_000010.11:g.33270786T>A	ExAC,gnomAD
NRP1	O14786	p.Ile107Lys	COSM1645681	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33270785A>T	NCI-TCGA Cosmic
NRP1	O14786	p.Ala108Thr	rs777048356	missense variant	-	NC_000010.11:g.33270783C>T	ExAC,gnomAD
NRP1	O14786	p.Pro110Ser	rs766086952	missense variant	-	NC_000010.11:g.33270777G>A	ExAC,TOPMed
NRP1	O14786	p.Pro111Leu	rs377601784	missense variant	-	NC_000010.11:g.33270773G>A	ESP,TOPMed
NRP1	O14786	p.Pro111His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33270773G>T	NCI-TCGA
NRP1	O14786	p.Val113Leu	rs1439297364	missense variant	-	NC_000010.11:g.33270768C>G	gnomAD
NRP1	O14786	p.Ser115Leu	COSM3867150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33270761G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Pro117Leu	rs780182320	missense variant	-	NC_000010.11:g.33270755G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro117Ser	COSM249102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33270756G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Leu119Pro	rs1343522633	missense variant	-	NC_000010.11:g.33270749A>G	TOPMed
NRP1	O14786	p.Leu119Val	rs746144639	missense variant	-	NC_000010.11:g.33270750G>C	ExAC,gnomAD
NRP1	O14786	p.Leu119Ile	rs746144639	missense variant	-	NC_000010.11:g.33270750G>T	ExAC,gnomAD
NRP1	O14786	p.Lys122Thr	rs753645404	missense variant	-	NC_000010.11:g.33270740T>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val124Asp	rs763747196	missense variant	-	NC_000010.11:g.33270734A>T	ExAC,gnomAD
NRP1	O14786	p.Tyr127Ter	rs142912222	stop gained	-	NC_000010.11:g.33270724G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu128Lys	COSM1646292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33270723C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Ala132Glu	rs1461436045	missense variant	-	NC_000010.11:g.33270710G>T	gnomAD
NRP1	O14786	p.Phe134Leu	rs759105775	missense variant	-	NC_000010.11:g.33270705A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser135Phe	COSM3437422	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33270701G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Ile136Met	rs1416723101	missense variant	-	NC_000010.11:g.33270697T>C	gnomAD
NRP1	O14786	p.Arg137His	rs150347665	missense variant	-	NC_000010.11:g.33270695C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Arg137Cys	rs766101815	missense variant	-	NC_000010.11:g.33270696G>A	ExAC,gnomAD
NRP1	O14786	p.Arg137Ser	rs766101815	missense variant	-	NC_000010.11:g.33270696G>T	ExAC,gnomAD
NRP1	O14786	p.Glu139Lys	COSM3437419	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33270690C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Ile140Leu	rs180868035	missense variant	-	NC_000010.11:g.33270687T>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Phe141Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33270683A>G	NCI-TCGA
NRP1	O14786	p.Lys142Arg	rs1459792917	missense variant	-	NC_000010.11:g.33270680T>C	TOPMed
NRP1	O14786	p.Arg143Gly	rs1250979931	missense variant	-	NC_000010.11:g.33270678T>C	gnomAD
NRP1	O14786	p.Arg143Ser	rs1212825426	missense variant	-	NC_000010.11:g.33270676T>A	gnomAD
NRP1	O14786	p.Arg143Ile	COSM1321376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33270677C>A	NCI-TCGA Cosmic
NRP1	O14786	p.Gly144Asp	rs1230188430	missense variant	-	NC_000010.11:g.33263873C>T	TOPMed
NRP1	O14786	p.Glu146Ala	rs1337857872	missense variant	-	NC_000010.11:g.33263867T>G	TOPMed
NRP1	O14786	p.Cys147Arg	rs764575518	missense variant	-	NC_000010.11:g.33263865A>G	ExAC,gnomAD
NRP1	O14786	p.Tyr151His	rs1401227091	missense variant	-	NC_000010.11:g.33263853A>G	TOPMed,gnomAD
NRP1	O14786	p.Pro154Arg	rs527361837	missense variant	-	NC_000010.11:g.33263843G>C	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro154Leu	rs527361837	missense variant	-	NC_000010.11:g.33263843G>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro154Ser	rs776015472	missense variant	-	NC_000010.11:g.33263844G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser155Asn	rs774445478	missense variant	-	NC_000010.11:g.33263840C>T	ExAC,gnomAD
NRP1	O14786	p.Ser155Thr	rs774445478	missense variant	-	NC_000010.11:g.33263840C>G	ExAC,gnomAD
NRP1	O14786	p.Ser155Arg	rs559961807	missense variant	-	NC_000010.11:g.33263839A>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser155Arg	rs559961807	missense variant	-	NC_000010.11:g.33263839A>C	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val157Ala	rs1450276055	missense variant	-	NC_000010.11:g.33263834A>G	TOPMed
NRP1	O14786	p.Val157Met	rs749539019	missense variant	-	NC_000010.11:g.33263835C>T	ExAC,gnomAD
NRP1	O14786	p.Ile158Thr	rs1190789897	missense variant	-	NC_000010.11:g.33263831A>G	TOPMed
NRP1	O14786	p.Lys159Gln	rs777846803	missense variant	-	NC_000010.11:g.33263829T>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys159Arg	rs138480424	missense variant	-	NC_000010.11:g.33263828T>C	ESP,ExAC
NRP1	O14786	p.Lys159Glu	rs777846803	missense variant	-	NC_000010.11:g.33263829T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro161Ser	rs912015040	missense variant	-	NC_000010.11:g.33263823G>A	TOPMed
NRP1	O14786	p.Gly162Glu	rs1210497251	missense variant	-	NC_000010.11:g.33263819C>T	gnomAD
NRP1	O14786	p.Gly162Arg	rs760204296	missense variant	-	NC_000010.11:g.33263820C>T	ExAC,gnomAD
NRP1	O14786	p.Pro168Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33263802G>A	NCI-TCGA
NRP1	O14786	p.Asn169Ser	COSM4013923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33263798T>C	NCI-TCGA Cosmic
NRP1	O14786	p.Leu171Phe	rs199984109	missense variant	-	NC_000010.11:g.33263793G>A	TOPMed,gnomAD
NRP1	O14786	p.Glu172Gln	rs754991998	missense variant	-	NC_000010.11:g.33263790C>G	ExAC,gnomAD
NRP1	O14786	p.Glu172Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33263789T>C	NCI-TCGA
NRP1	O14786	p.Ile176Val	rs779720457	missense variant	-	NC_000010.11:g.33263778T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val179Glu	rs7079053	missense variant	-	NC_000010.11:g.33263768A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val179Ala	rs7079053	missense variant	-	NC_000010.11:g.33263768A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro180Leu	rs201526603	missense variant	-	NC_000010.11:g.33263765G>A	1000Genomes,TOPMed
NRP1	O14786	p.Pro180Ser	rs761148975	missense variant	-	NC_000010.11:g.33263766G>A	ExAC,gnomAD
NRP1	O14786	p.Lys181Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33263761C>A	NCI-TCGA
NRP1	O14786	p.Lys181Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33263762T>G	NCI-TCGA
NRP1	O14786	p.Lys181Glu	rs753081430	missense variant	-	NC_000010.11:g.33263763T>C	ExAC,TOPMed
NRP1	O14786	p.Lys181Asn	rs767829083	missense variant	-	NC_000010.11:g.33263761C>G	ExAC,gnomAD
NRP1	O14786	p.Met182Thr	rs760040713	missense variant	-	NC_000010.11:g.33263759A>G	ExAC,gnomAD
NRP1	O14786	p.Glu184Asp	rs1347724696	missense variant	-	NC_000010.11:g.33263752C>A	TOPMed
NRP1	O14786	p.Ile186Phe	rs774782566	missense variant	-	NC_000010.11:g.33263748T>A	ExAC,gnomAD
NRP1	O14786	p.Ile186Asn	rs766540692	missense variant	-	NC_000010.11:g.33263747A>T	ExAC,gnomAD
NRP1	O14786	p.Glu188Gln	rs1173936257	missense variant	-	NC_000010.11:g.33263742C>G	gnomAD
NRP1	O14786	p.Asp193Glu	rs1415820731	missense variant	-	NC_000010.11:g.33263725G>T	TOPMed,gnomAD
NRP1	O14786	p.Pro196Ala	rs762939897	missense variant	-	NC_000010.11:g.33263718G>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser198Ter	COSM1646294	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.33263711G>C	NCI-TCGA Cosmic
NRP1	O14786	p.Asn199Thr	rs1486129684	missense variant	-	NC_000010.11:g.33263708T>G	gnomAD
NRP1	O14786	p.Pro200Thr	rs1258450460	missense variant	-	NC_000010.11:g.33263706G>T	gnomAD
NRP1	O14786	p.Pro201Leu	rs200265591	missense variant	-	NC_000010.11:g.33263702G>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly202Val	rs941004239	missense variant	-	NC_000010.11:g.33263699C>A	TOPMed,gnomAD
NRP1	O14786	p.Gly202Ala	rs941004239	missense variant	-	NC_000010.11:g.33263699C>G	TOPMed,gnomAD
NRP1	O14786	p.Gly202Arg	rs1480484289	missense variant	-	NC_000010.11:g.33263700C>G	gnomAD
NRP1	O14786	p.Gly203Ala	rs769888879	missense variant	-	NC_000010.11:g.33263696C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly203Arg	rs909532212	missense variant	-	NC_000010.11:g.33263697C>T	TOPMed,gnomAD
NRP1	O14786	p.Met204Ile	rs1456188657	missense variant	-	NC_000010.11:g.33263692C>T	gnomAD
NRP1	O14786	p.Arg207His	rs148308681	missense variant	-	NC_000010.11:g.33263684C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr208His	rs746998077	missense variant	-	NC_000010.11:g.33263682A>G	ExAC,gnomAD
NRP1	O14786	p.Arg210Leu	rs757963789	missense variant	-	NC_000010.11:g.33263675C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg210Gln	rs757963789	missense variant	-	NC_000010.11:g.33263675C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg210Trp	rs779848424	missense variant	-	NC_000010.11:g.33263676G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg210Pro	rs757963789	missense variant	-	NC_000010.11:g.33263675C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu211Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33263673G>C	NCI-TCGA
NRP1	O14786	p.Glu212Asp	COSM4865790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33263668T>G	NCI-TCGA Cosmic
NRP1	O14786	p.Asp215Asn	rs1459872074	missense variant	-	NC_000010.11:g.33263661C>T	gnomAD
NRP1	O14786	p.Phe217Leu	rs1393567589	missense variant	-	NC_000010.11:g.33263653G>T	gnomAD
NRP1	O14786	p.Pro218Arg	COSM3437412	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33263651G>C	NCI-TCGA Cosmic
NRP1	O14786	p.Asp219His	rs1164308760	missense variant	-	NC_000010.11:g.33263649C>G	gnomAD
NRP1	O14786	p.Val220Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33263646C>T	NCI-TCGA
NRP1	O14786	p.Val220Ala	rs778291277	missense variant	-	NC_000010.11:g.33256471A>G	ExAC,gnomAD
NRP1	O14786	p.Pro222Thr	rs143227333	missense variant	-	NC_000010.11:g.33256466G>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro222Ser	rs143227333	missense variant	-	NC_000010.11:g.33256466G>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile224Val	rs777399733	missense variant	-	NC_000010.11:g.33256460T>C	ExAC,gnomAD
NRP1	O14786	p.Ile224Met	rs752844799	missense variant	-	NC_000010.11:g.33256458A>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile224Thr	rs755377330	missense variant	-	NC_000010.11:g.33256459A>G	ExAC,gnomAD
NRP1	O14786	p.Arg226His	rs201034499	missense variant	-	NC_000010.11:g.33256453C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg226Cys	rs750880625	missense variant	-	NC_000010.11:g.33256454G>A	ExAC,gnomAD
NRP1	O14786	p.Gln230Pro	rs754150577	missense variant	-	NC_000010.11:g.33256441T>G	ExAC,gnomAD
NRP1	O14786	p.Lys231Glu	rs764387080	missense variant	-	NC_000010.11:g.33256439T>C	ExAC,gnomAD
NRP1	O14786	p.Thr232Ser	rs1173524331	missense variant	-	NC_000010.11:g.33256436T>A	gnomAD
NRP1	O14786	p.Gly234Asp	rs1032055908	missense variant	-	NC_000010.11:g.33256429C>T	TOPMed
NRP1	O14786	p.Arg235Gly	rs1371787655	missense variant	-	NC_000010.11:g.33256427G>C	gnomAD
NRP1	O14786	p.Arg235Ter	COSM1217849	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.33256427G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Arg237Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33256421G>A	NCI-TCGA
NRP1	O14786	p.Arg237Gln	rs866118992	missense variant	-	NC_000010.11:g.33256420C>T	TOPMed,gnomAD
NRP1	O14786	p.Ser240Leu	rs775178016	missense variant	-	NC_000010.11:g.33256411G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser240Leu	rs775178016	missense variant	-	NC_000010.11:g.33256411G>A	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Ile242Ser	rs146442068	missense variant	-	NC_000010.11:g.33256405A>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Met245Val	rs375021532	missense variant	-	NC_000010.11:g.33256397T>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr248ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.33256388A>-	NCI-TCGA
NRP1	O14786	p.Tyr248His	rs1434061744	missense variant	-	NC_000010.11:g.33256388A>G	gnomAD
NRP1	O14786	p.Thr249Ser	rs748767291	missense variant	-	NC_000010.11:g.33256384G>C	ExAC,gnomAD
NRP1	O14786	p.Ser251Arg	rs747799575	missense variant	-	NC_000010.11:g.33256377G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala252Thr	rs1300083541	missense variant	-	NC_000010.11:g.33256376C>T	TOPMed,gnomAD
NRP1	O14786	p.Ala252Val	rs780290010	missense variant	-	NC_000010.11:g.33256375G>A	NCI-TCGA
NRP1	O14786	p.Ala252Val	rs780290010	missense variant	-	NC_000010.11:g.33256375G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala254Thr	rs1335290470	missense variant	-	NC_000010.11:g.33256370C>T	gnomAD
NRP1	O14786	p.Ser259Leu	COSM4835433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33256354G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Ala260Thr	rs1473029523	missense variant	-	NC_000010.11:g.33256352C>T	TOPMed
NRP1	O14786	p.Ser263Gly	rs1478416024	missense variant	-	NC_000010.11:g.33256343T>C	TOPMed,gnomAD
NRP1	O14786	p.Ser263Cys	rs1478416024	missense variant	-	NC_000010.11:g.33256343T>A	TOPMed,gnomAD
NRP1	O14786	p.Leu265Ser	rs750955267	missense variant	-	NC_000010.11:g.33256336A>G	ExAC,gnomAD
NRP1	O14786	p.Gln266His	rs779527944	missense variant	-	NC_000010.11:g.33256332C>G	ExAC,gnomAD
NRP1	O14786	p.Ser267Asn	rs113722704	missense variant	-	NC_000010.11:g.33256330C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu271Gly	rs1212018208	missense variant	-	NC_000010.11:g.33256318T>C	gnomAD
NRP1	O14786	p.Glu271Ter	COSM427517	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.33256319C>A	NCI-TCGA Cosmic
NRP1	O14786	p.Asp272His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33256316C>G	NCI-TCGA
NRP1	O14786	p.Asp272Asn	rs1435819505	missense variant	-	NC_000010.11:g.33256316C>T	gnomAD
NRP1	O14786	p.Met276Val	rs1019886408	missense variant	-	NC_000010.11:g.33254183T>C	-
NRP1	O14786	p.Met276Val	rs1019886408	missense variant	-	NC_000010.11:g.33254183T>C	NCI-TCGA
NRP1	O14786	p.Met281Val	rs1230311035	missense variant	-	NC_000010.11:g.33254168T>C	gnomAD
NRP1	O14786	p.Met281Thr	rs1371435295	missense variant	-	NC_000010.11:g.33254167A>G	gnomAD
NRP1	O14786	p.Glu282Asp	rs1309002041	missense variant	-	NC_000010.11:g.33254163T>G	gnomAD
NRP1	O14786	p.Glu285Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33254156C>A	NCI-TCGA
NRP1	O14786	p.Glu285Lys	rs767749031	missense variant	-	NC_000010.11:g.33254156C>T	ExAC,gnomAD
NRP1	O14786	p.Ile286Ser	rs577020617	missense variant	-	NC_000010.11:g.33254152A>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.His287Asn	rs751394461	missense variant	-	NC_000010.11:g.33254150G>T	ExAC,gnomAD
NRP1	O14786	p.His287Arg	rs1350006225	missense variant	-	NC_000010.11:g.33254149T>C	gnomAD
NRP1	O14786	p.Ser288Phe	rs766125758	missense variant	-	NC_000010.11:g.33254146G>A	ExAC,gnomAD
NRP1	O14786	p.Asp289His	rs773080378	missense variant	-	NC_000010.11:g.33254144C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp289Glu	rs764772224	missense variant	-	NC_000010.11:g.33254142G>T	ExAC,gnomAD
NRP1	O14786	p.Asp289Asn	rs773080378	missense variant	-	NC_000010.11:g.33254144C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gln290His	rs1243963204	missense variant	-	NC_000010.11:g.33254139C>G	TOPMed
NRP1	O14786	p.Ile291Phe	rs761386013	missense variant	-	NC_000010.11:g.33254138T>A	ExAC,gnomAD
NRP1	O14786	p.Thr292Ala	rs1250882679	missense variant	-	NC_000010.11:g.33254135T>C	gnomAD
NRP1	O14786	p.Ala293Val	rs1047454308	missense variant	-	NC_000010.11:g.33254131G>A	-
NRP1	O14786	p.Ala293Val	rs1047454308	missense variant	-	NC_000010.11:g.33254131G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Ser295Cys	rs776208797	missense variant	-	NC_000010.11:g.33254125G>C	ExAC,gnomAD
NRP1	O14786	p.Thr299Ile	rs746578622	missense variant	-	NC_000010.11:g.33254113G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr299Asn	rs746578622	missense variant	-	NC_000010.11:g.33254113G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Trp301Leu	rs985863213	missense variant	-	NC_000010.11:g.33254107C>A	TOPMed
NRP1	O14786	p.Arg305Cys	rs774889924	missense variant	-	NC_000010.11:g.33254096G>A	ExAC,gnomAD
NRP1	O14786	p.Arg305His	rs1174102640	missense variant	-	NC_000010.11:g.33254095C>T	TOPMed
NRP1	O14786	p.Arg307Cys	rs771374851	missense variant	-	NC_000010.11:g.33254090G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg307Leu	rs749859903	missense variant	-	NC_000010.11:g.33254089C>A	ExAC,gnomAD
NRP1	O14786	p.Arg307Ser	rs771374851	missense variant	-	NC_000010.11:g.33254090G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr310His	rs930398633	missense variant	-	NC_000010.11:g.33254081A>G	TOPMed,gnomAD
NRP1	O14786	p.Pro311His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33254077G>T	NCI-TCGA
NRP1	O14786	p.Pro311Ser	rs778394341	missense variant	-	NC_000010.11:g.33254078G>A	ExAC,gnomAD
NRP1	O14786	p.Glu312Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33254075C>T	NCI-TCGA
NRP1	O14786	p.Glu312Gly	rs748245414	missense variant	-	NC_000010.11:g.33254074T>C	ExAC,gnomAD
NRP1	O14786	p.Pro317His	rs1359535322	missense variant	-	NC_000010.11:g.33254059G>T	gnomAD
NRP1	O14786	p.Gly318Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33254057C>A	NCI-TCGA
NRP1	O14786	p.Gly318Arg	rs779844067	missense variant	-	NC_000010.11:g.33254057C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly318Arg	rs779844067	missense variant	-	NC_000010.11:g.33254057C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu319Gln	rs1393110479	missense variant	-	NC_000010.11:g.33254054C>G	TOPMed,gnomAD
NRP1	O14786	p.Ser321Phe	COSM3437409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33254047G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Arg323Gln	rs1427093763	missense variant	-	NC_000010.11:g.33254041C>T	TOPMed,gnomAD
NRP1	O14786	p.Glu324Asp	rs751737800	missense variant	-	NC_000010.11:g.33254037C>G	ExAC,gnomAD
NRP1	O14786	p.Trp325Arg	COSM4874388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33254036A>T	NCI-TCGA Cosmic
NRP1	O14786	p.Asp329Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33226286C>T	NCI-TCGA
NRP1	O14786	p.Gly331Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33226280C>T	NCI-TCGA
NRP1	O14786	p.Leu332Val	rs1254302895	missense variant	-	NC_000010.11:g.33226277G>C	TOPMed
NRP1	O14786	p.Leu332Phe	COSM4913248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33226277G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Arg334Ser	rs747418517	missense variant	-	NC_000010.11:g.33226271G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg334Cys	rs747418517	missense variant	-	NC_000010.11:g.33226271G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg334His	rs754511946	missense variant	-	NC_000010.11:g.33226270C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg334Cys	rs747418517	missense variant	-	NC_000010.11:g.33226271G>A	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Val336Leu	rs765938650	missense variant	-	NC_000010.11:g.33226265C>G	ExAC,gnomAD
NRP1	O14786	p.Thr337Ala	rs367928513	missense variant	-	NC_000010.11:g.33226262T>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr337Met	rs142121081	missense variant	-	NC_000010.11:g.33226261G>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr337Arg	rs142121081	missense variant	-	NC_000010.11:g.33226261G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr337Met	rs142121081	missense variant	-	NC_000010.11:g.33226261G>A	NCI-TCGA
NRP1	O14786	p.Gly340Arg	rs553769055	missense variant	-	NC_000010.11:g.33226253C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Gly340Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33226252C>T	NCI-TCGA
NRP1	O14786	p.Gly340Arg	rs553769055	missense variant	-	NC_000010.11:g.33226253C>T	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Gln342His	rs200760101	missense variant	-	NC_000010.11:g.33226245C>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala344Thr	rs771071490	missense variant	-	NC_000010.11:g.33226241C>T	ExAC,gnomAD
NRP1	O14786	p.Ala344Thr	rs771071490	missense variant	-	NC_000010.11:g.33226241C>T	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Ala344Val	COSM3437405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33226240G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Ile345Thr	rs773170786	missense variant	-	NC_000010.11:g.33226237A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser346Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33226234G>A	NCI-TCGA
NRP1	O14786	p.Lys347Glu	rs1385898695	missense variant	-	NC_000010.11:g.33226232T>C	TOPMed
NRP1	O14786	p.Lys347Asn	rs748142955	missense variant	-	NC_000010.11:g.33226230T>G	ExAC,gnomAD
NRP1	O14786	p.Glu348Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33226229C>A	NCI-TCGA
NRP1	O14786	p.Thr349Ser	rs1475387169	missense variant	-	NC_000010.11:g.33226225G>C	TOPMed,gnomAD
NRP1	O14786	p.Lys351Arg	rs754598313	missense variant	-	NC_000010.11:g.33226219T>C	ExAC,gnomAD
NRP1	O14786	p.Tyr353Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33226213T>A	NCI-TCGA
NRP1	O14786	p.Tyr354Cys	rs1237897247	missense variant	-	NC_000010.11:g.33226210T>C	gnomAD
NRP1	O14786	p.Val355Ile	rs571665973	missense variant	-	NC_000010.11:g.33226208C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Thr357Asn	rs374630762	missense variant	-	NC_000010.11:g.33226201G>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr358GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.33226198_33226199TA>-	NCI-TCGA
NRP1	O14786	p.Lys359Met	rs149966206	missense variant	-	NC_000010.11:g.33226195T>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile360Met	rs139187411	missense variant	-	NC_000010.11:g.33226191G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp361His	rs756440174	missense variant	-	NC_000010.11:g.33226190C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp361Asn	rs756440174	missense variant	-	NC_000010.11:g.33226190C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser364Pro	rs1355895172	missense variant	-	NC_000010.11:g.33226181A>G	gnomAD
NRP1	O14786	p.Asn365Ser	rs776033868	missense variant	-	NC_000010.11:g.33226177T>C	TOPMed
NRP1	O14786	p.Gly366Arg	rs370551432	missense variant	-	NC_000010.11:g.33226175C>T	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Gly366Arg	rs370551432	missense variant	-	NC_000010.11:g.33226175C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp368Glu	rs911784141	missense variant	-	NC_000010.11:g.33226167G>C	TOPMed
NRP1	O14786	p.Trp369Gly	rs1478923374	missense variant	-	NC_000010.11:g.33226166A>C	TOPMed
NRP1	O14786	p.Trp369Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33226164C>A	NCI-TCGA
NRP1	O14786	p.Ile370Thr	rs199673539	missense variant	-	NC_000010.11:g.33226162A>G	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr371Ile	rs530168426	missense variant	-	NC_000010.11:g.33226159G>A	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Thr371Ala	rs766440717	missense variant	-	NC_000010.11:g.33226160T>C	ExAC,gnomAD
NRP1	O14786	p.Ile372Val	rs773543182	missense variant	-	NC_000010.11:g.33226157T>C	ExAC,gnomAD
NRP1	O14786	p.Gly375Glu	rs945004288	missense variant	-	NC_000010.11:g.33226147C>T	TOPMed
NRP1	O14786	p.Asn376Ser	rs769749073	missense variant	-	NC_000010.11:g.33226144T>C	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Asn376Ser	rs769749073	missense variant	-	NC_000010.11:g.33226144T>C	ExAC,gnomAD
NRP1	O14786	p.Lys377Asn	rs1413987416	missense variant	-	NC_000010.11:g.33226140T>G	gnomAD
NRP1	O14786	p.Pro378Arg	rs1164817714	missense variant	-	NC_000010.11:g.33226138G>C	TOPMed,gnomAD
NRP1	O14786	p.Val379Ile	rs747948664	missense variant	-	NC_000010.11:g.33226136C>T	ExAC,gnomAD
NRP1	O14786	p.Val379Ala	rs1379433473	missense variant	-	NC_000010.11:g.33226135A>G	gnomAD
NRP1	O14786	p.Gln382Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33221857G>A	NCI-TCGA
NRP1	O14786	p.Gln382Pro	rs1196047532	missense variant	-	NC_000010.11:g.33221856T>G	TOPMed
NRP1	O14786	p.Asn384Lys	rs762065562	missense variant	-	NC_000010.11:g.33221849G>C	ExAC,gnomAD
NRP1	O14786	p.Thr385Pro	rs776602965	missense variant	-	NC_000010.11:g.33221848T>G	ExAC,gnomAD
NRP1	O14786	p.Thr388Ser	rs775470113	missense variant	-	NC_000010.11:g.33221839T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp389Glu	rs771549854	missense variant	-	NC_000010.11:g.33221834A>T	ExAC,gnomAD
NRP1	O14786	p.Asp389Tyr	COSM3414996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33221836C>A	NCI-TCGA Cosmic
NRP1	O14786	p.Val390Ile	rs745371202	missense variant	-	NC_000010.11:g.33221833C>T	ExAC,gnomAD
NRP1	O14786	p.Val391Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33221829A>G	NCI-TCGA
NRP1	O14786	p.Val392Phe	rs1414962803	missense variant	-	NC_000010.11:g.33221827C>A	gnomAD
NRP1	O14786	p.Pro398Leu	rs1427139883	missense variant	-	NC_000010.11:g.33221808G>A	TOPMed
NRP1	O14786	p.Ile400Thr	rs748899944	missense variant	-	NC_000010.11:g.33221802A>G	ExAC,gnomAD
NRP1	O14786	p.Ile400Val	rs1476965621	missense variant	-	NC_000010.11:g.33221803T>C	gnomAD
NRP1	O14786	p.Thr401Ile	rs781431241	missense variant	-	NC_000010.11:g.33221799G>A	ExAC,gnomAD
NRP1	O14786	p.Arg402Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33221797G>A	NCI-TCGA
NRP1	O14786	p.Arg402Gln	rs755346095	missense variant	-	NC_000010.11:g.33221796C>T	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Arg402Gln	rs755346095	missense variant	-	NC_000010.11:g.33221796C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg405Gln	rs752043800	missense variant	-	NC_000010.11:g.33221787C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg405Ter	COSM6129254	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.33221788G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Ala409Glu	rs750540463	missense variant	-	NC_000010.11:g.33221775G>T	ExAC,gnomAD
NRP1	O14786	p.Ala409Thr	rs758460720	missense variant	-	NC_000010.11:g.33221776C>T	ExAC,gnomAD
NRP1	O14786	p.Glu412Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33221765T>A	NCI-TCGA
NRP1	O14786	p.Thr413Ser	rs1004627552	missense variant	-	NC_000010.11:g.33221764T>A	TOPMed
NRP1	O14786	p.Ile415Val	rs762153303	missense variant	-	NC_000010.11:g.33221758T>C	ExAC,gnomAD
NRP1	O14786	p.Ile415Thr	rs754093395	missense variant	-	NC_000010.11:g.33221757A>G	ExAC,gnomAD
NRP1	O14786	p.Ser416Tyr	rs369312020	missense variant	-	NC_000010.11:g.33221754G>T	ESP,ExAC,gnomAD
NRP1	O14786	p.Ser416Phe	rs369312020	missense variant	-	NC_000010.11:g.33221754G>A	NCI-TCGA
NRP1	O14786	p.Ser416Phe	rs369312020	missense variant	-	NC_000010.11:g.33221754G>A	ESP,ExAC,gnomAD
NRP1	O14786	p.Ser416Pro	rs1295915647	missense variant	-	NC_000010.11:g.33221755A>G	TOPMed
NRP1	O14786	p.Met417Val	rs576366181	missense variant	-	NC_000010.11:g.33221752T>C	gnomAD
NRP1	O14786	p.Met417Ile	COSM3437397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33221750C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Phe419Val	rs1430431200	missense variant	-	NC_000010.11:g.33221746A>C	TOPMed
NRP1	O14786	p.Phe419Leu	rs1430431200	missense variant	-	NC_000010.11:g.33221746A>G	TOPMed
NRP1	O14786	p.Val421Ala	rs775349899	missense variant	-	NC_000010.11:g.33221739A>G	ExAC,gnomAD
NRP1	O14786	p.Val421Ala	rs775349899	missense variant	-	NC_000010.11:g.33221739A>G	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Gly423Ser	rs1408118336	missense variant	-	NC_000010.11:g.33221734C>T	gnomAD
NRP1	O14786	p.Gly423Ala	COSM4947656	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33221733C>G	NCI-TCGA Cosmic
NRP1	O14786	p.Cys424Ter	rs1280262067	stop gained	-	NC_000010.11:g.33221729G>T	TOPMed
NRP1	O14786	p.Lys425Met	rs1178713109	missense variant	-	NC_000010.11:g.33221727T>A	TOPMed,gnomAD
NRP1	O14786	p.Ile426Thr	rs770379832	missense variant	-	NC_000010.11:g.33221724A>G	ExAC,gnomAD
NRP1	O14786	p.Thr427Arg	rs748987885	missense variant	-	NC_000010.11:g.33221721G>C	ExAC
NRP1	O14786	p.Tyr429Asn	rs767177302	missense variant	-	NC_000010.11:g.33213715A>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro430Ser	rs1164557074	missense variant	-	NC_000010.11:g.33213712G>A	gnomAD
NRP1	O14786	p.Ser432Phe	rs145954532	missense variant	-	NC_000010.11:g.33213705G>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly433Val	rs1441999445	missense variant	-	NC_000010.11:g.33213702C>A	TOPMed
NRP1	O14786	p.Met434Thr	rs774247461	missense variant	-	NC_000010.11:g.33213699A>G	ExAC,gnomAD
NRP1	O14786	p.Leu435Met	rs765913209	missense variant	-	NC_000010.11:g.33213697A>T	ExAC
NRP1	O14786	p.Gly436Val	rs1157381199	missense variant	-	NC_000010.11:g.33213693C>A	TOPMed
NRP1	O14786	p.Met437Val	rs772795504	missense variant	-	NC_000010.11:g.33213691T>C	ExAC,gnomAD
NRP1	O14786	p.Met437Ile	rs1238266451	missense variant	-	NC_000010.11:g.33213689C>T	gnomAD
NRP1	O14786	p.Ser439Ala	rs1196962374	missense variant	-	NC_000010.11:g.33213685A>C	TOPMed,gnomAD
NRP1	O14786	p.Gly440Arg	COSM6129258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33213682C>G	NCI-TCGA Cosmic
NRP1	O14786	p.Gly440Arg	COSM3437393	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33213682C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Ile442Phe	rs1487318606	missense variant	-	NC_000010.11:g.33213676T>A	TOPMed,gnomAD
NRP1	O14786	p.Ser443Phe	rs1245041209	missense variant	-	NC_000010.11:g.33213672G>A	TOPMed,gnomAD
NRP1	O14786	p.Ser443Pro	rs769495258	missense variant	-	NC_000010.11:g.33213673A>G	ExAC,gnomAD
NRP1	O14786	p.Ile447Leu	rs775948593	missense variant	-	NC_000010.11:g.33213661T>G	ExAC
NRP1	O14786	p.Thr448Ala	rs199883581	missense variant	-	NC_000010.11:g.33213658T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly453Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33213643C>T	NCI-TCGA
NRP1	O14786	p.Gly453Glu	rs375128788	missense variant	-	NC_000010.11:g.33213642C>T	ESP,ExAC,gnomAD
NRP1	O14786	p.Asp454Tyr	rs779560935	missense variant	-	NC_000010.11:g.33213640C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp454Asn	rs779560935	missense variant	-	NC_000010.11:g.33213640C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Met458Thr	rs1425527048	missense variant	-	NC_000010.11:g.33213627A>G	gnomAD
NRP1	O14786	p.Met458Ile	rs1302091427	missense variant	-	NC_000010.11:g.33213626C>T	gnomAD
NRP1	O14786	p.Met458Val	rs529636463	missense variant	-	NC_000010.11:g.33213628T>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Pro459Thr	rs777648377	missense variant	-	NC_000010.11:g.33213625G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu460Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33213622C>G	NCI-TCGA
NRP1	O14786	p.Arg463His	rs1246937435	missense variant	-	NC_000010.11:g.33213612C>T	TOPMed
NRP1	O14786	p.Arg463Cys	rs1240303141	missense variant	-	NC_000010.11:g.33213613G>A	TOPMed,gnomAD
NRP1	O14786	p.Leu464Arg	rs200660300	missense variant	-	NC_000010.11:g.33213609A>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Val465Ile	rs540725422	missense variant	-	NC_000010.11:g.33213607C>T	1000Genomes,ExAC
NRP1	O14786	p.Thr466Ser	rs767349233	missense variant	-	NC_000010.11:g.33213604T>A	ExAC,gnomAD
NRP1	O14786	p.Ser467Arg	rs1364837534	missense variant	-	NC_000010.11:g.33213599A>C	gnomAD
NRP1	O14786	p.Ser467Thr	COSM4838036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33213600C>G	NCI-TCGA Cosmic
NRP1	O14786	p.Arg468His	rs751563527	missense variant	-	NC_000010.11:g.33213597C>T	ExAC,gnomAD
NRP1	O14786	p.Arg468Cys	rs532348709	missense variant	-	NC_000010.11:g.33213598G>A	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Leu473Pro	rs766287742	missense variant	-	NC_000010.11:g.33213582A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala476Ser	rs564902260	missense variant	-	NC_000010.11:g.33213574C>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala476Thr	rs564902260	missense variant	-	NC_000010.11:g.33213574C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala476Pro	rs564902260	missense variant	-	NC_000010.11:g.33213574C>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala476Val	rs1215544814	missense variant	-	NC_000010.11:g.33213573G>A	TOPMed,gnomAD
NRP1	O14786	p.Pro477His	rs1230932764	missense variant	-	NC_000010.11:g.33213570G>T	TOPMed,gnomAD
NRP1	O14786	p.Pro477Ser	rs776118668	missense variant	-	NC_000010.11:g.33213571G>A	ExAC,gnomAD
NRP1	O14786	p.Asn482Ser	rs1042934113	missense variant	-	NC_000010.11:g.33213555T>C	gnomAD
NRP1	O14786	p.Glu483Lys	COSM427515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33213553C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Trp484Cys	rs774800046	missense variant	-	NC_000010.11:g.33213548C>A	ExAC
NRP1	O14786	p.Trp484Ter	rs759969860	stop gained	-	NC_000010.11:g.33213549C>T	ExAC,gnomAD
NRP1	O14786	p.Trp484Ter	COSM4013909	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.33213548C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Leu485Pro	rs890641054	missense variant	-	NC_000010.11:g.33213546A>G	TOPMed
NRP1	O14786	p.Ile487Val	rs182437025	missense variant	-	NC_000010.11:g.33213541T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile487Met	rs376390429	missense variant	-	NC_000010.11:g.33213539T>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp488His	rs769737936	missense variant	-	NC_000010.11:g.33213538C>G	ExAC,gnomAD
NRP1	O14786	p.Leu489Val	rs1190279010	missense variant	-	NC_000010.11:g.33213535G>C	TOPMed
NRP1	O14786	p.Gly490Glu	rs781387948	missense variant	-	NC_000010.11:g.33213531C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly490Arg	rs1160845721	missense variant	-	NC_000010.11:g.33213532C>G	gnomAD
NRP1	O14786	p.Glu491Lys	rs1376633400	missense variant	-	NC_000010.11:g.33213529C>T	TOPMed,gnomAD
NRP1	O14786	p.Lys493Arg	rs754822166	missense variant	-	NC_000010.11:g.33213522T>C	ExAC,gnomAD
NRP1	O14786	p.Lys493Thr	COSM1560800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33213522T>G	NCI-TCGA Cosmic
NRP1	O14786	p.Ile494Leu	rs892763734	missense variant	-	NC_000010.11:g.33213520T>G	TOPMed
NRP1	O14786	p.Val495Met	rs749575467	missense variant	-	NC_000010.11:g.33213517C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly497Ser	rs1192699113	missense variant	-	NC_000010.11:g.33213511C>T	gnomAD
NRP1	O14786	p.Gly497Ala	rs1447416741	missense variant	-	NC_000010.11:g.33213510C>G	TOPMed,gnomAD
NRP1	O14786	p.Gly497Asp	rs1447416741	missense variant	-	NC_000010.11:g.33213510C>T	TOPMed,gnomAD
NRP1	O14786	p.Ile498Leu	rs1198715278	missense variant	-	NC_000010.11:g.33213508T>G	gnomAD
NRP1	O14786	p.Ile499Val	rs758389396	missense variant	-	NC_000010.11:g.33213505T>C	ExAC,TOPMed
NRP1	O14786	p.His505Tyr	rs764845863	missense variant	-	NC_000010.11:g.33213487G>A	ExAC,gnomAD
NRP1	O14786	p.Arg506Gln	rs554892989	missense variant	-	NC_000010.11:g.33213483C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg506Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33213484G>A	NCI-TCGA
NRP1	O14786	p.Glu507Lys	rs1276594573	missense variant	-	NC_000010.11:g.33213481C>T	gnomAD
NRP1	O14786	p.Asn508Tyr	rs763853549	missense variant	-	NC_000010.11:g.33213478T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys509Thr	rs1327457530	missense variant	-	NC_000010.11:g.33213474T>G	gnomAD
NRP1	O14786	p.Phe511Leu	rs1402043333	missense variant	-	NC_000010.11:g.33213467G>C	gnomAD
NRP1	O14786	p.Phe511Val	rs774890067	missense variant	-	NC_000010.11:g.33213469A>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Phe511Leu	rs774890067	missense variant	-	NC_000010.11:g.33213469A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Met512Val	rs771375002	missense variant	-	NC_000010.11:g.33213466T>C	ExAC,gnomAD
NRP1	O14786	p.Lys514Asn	rs1470644534	missense variant	-	NC_000010.11:g.33213458C>A	TOPMed,gnomAD
NRP1	O14786	p.Ile517Val	rs763563755	missense variant	-	NC_000010.11:g.33213451T>C	ExAC,gnomAD
NRP1	O14786	p.Ile517Thr	rs1169600404	missense variant	-	NC_000010.11:g.33213450A>G	gnomAD
NRP1	O14786	p.Gly518Arg	rs769982693	missense variant	-	NC_000010.11:g.33213448C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr519Phe	rs1475173245	missense variant	-	NC_000010.11:g.33213444T>A	TOPMed
NRP1	O14786	p.Ser520Gly	rs543390398	missense variant	-	NC_000010.11:g.33213442T>C	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly523Ser	rs1205457813	missense variant	-	NC_000010.11:g.33213433C>T	TOPMed,gnomAD
NRP1	O14786	p.Ser524Leu	rs117525057	missense variant	-	NC_000010.11:g.33213429G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp525Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33213427C>T	NCI-TCGA
NRP1	O14786	p.Trp526Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33213422C>T	NCI-TCGA
NRP1	O14786	p.Trp526Ter	COSM917831	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.33213423C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Met528Arg	rs1304164758	missense variant	-	NC_000010.11:g.33213417A>C	gnomAD
NRP1	O14786	p.Met528Val	rs1340253141	missense variant	-	NC_000010.11:g.33213418T>C	gnomAD
NRP1	O14786	p.Met528Ile	COSM4400596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33213416C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Met530Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33213410C>T	NCI-TCGA
NRP1	O14786	p.Met530Thr	rs1272293907	missense variant	-	NC_000010.11:g.33213411A>G	gnomAD
NRP1	O14786	p.Asp531Asn	rs1222857683	missense variant	-	NC_000010.11:g.33213409C>T	gnomAD
NRP1	O14786	p.Asp531His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33213409C>G	NCI-TCGA
NRP1	O14786	p.Asp532Glu	rs778706384	missense variant	-	NC_000010.11:g.33213404G>T	ExAC,gnomAD
NRP1	O14786	p.Asp532Tyr	rs371533986	missense variant	-	NC_000010.11:g.33213406C>A	ESP,ExAC,gnomAD
NRP1	O14786	p.Arg535Pro	rs763657085	missense variant	-	NC_000010.11:g.33213396C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg535Cys	rs757164139	missense variant	-	NC_000010.11:g.33213397G>A	ExAC,gnomAD
NRP1	O14786	p.Arg535His	rs763657085	missense variant	-	NC_000010.11:g.33213396C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala537Val	rs760427841	missense variant	-	NC_000010.11:g.33213390G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala537Thr	rs1330019086	missense variant	-	NC_000010.11:g.33213391C>T	gnomAD
NRP1	O14786	p.Ser539Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33207715G>T	NCI-TCGA
NRP1	O14786	p.Glu541Lys	rs1282161805	missense variant	-	NC_000010.11:g.33207710C>T	TOPMed
NRP1	O14786	p.Glu541Asp	rs1288766705	missense variant	-	NC_000010.11:g.33207708C>G	gnomAD
NRP1	O14786	p.Gly542Ala	rs1203567172	missense variant	-	NC_000010.11:g.33207706C>G	gnomAD
NRP1	O14786	p.Asn543Ser	rs1264457405	missense variant	-	NC_000010.11:g.33207703T>C	gnomAD
NRP1	O14786	p.Asn544Ser	rs773082833	missense variant	-	NC_000010.11:g.33207700T>C	ExAC,gnomAD
NRP1	O14786	p.Tyr546Asp	rs1306488561	missense variant	-	NC_000010.11:g.33207695A>C	TOPMed,gnomAD
NRP1	O14786	p.Tyr546Phe	rs769859201	missense variant	-	NC_000010.11:g.33207694T>A	ExAC,gnomAD
NRP1	O14786	p.Tyr546His	rs1306488561	missense variant	-	NC_000010.11:g.33207695A>G	TOPMed,gnomAD
NRP1	O14786	p.Thr548Ile	rs201841993	missense variant	-	NC_000010.11:g.33207688G>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu551Val	rs768187031	missense variant	-	NC_000010.11:g.33207680G>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg552Trp	rs779745790	missense variant	-	NC_000010.11:g.33207677G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg552Gln	rs757990959	missense variant	-	NC_000010.11:g.33207676C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr553Ile	rs778076075	missense variant	-	NC_000010.11:g.33207673G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr553Ser	rs754210318	missense variant	-	NC_000010.11:g.33207674T>A	ExAC,gnomAD
NRP1	O14786	p.Phe554Leu	rs756636306	missense variant	-	NC_000010.11:g.33207671A>G	ExAC,gnomAD
NRP1	O14786	p.Pro555Leu	rs775164675	missense variant	-	NC_000010.11:g.33207667G>A	gnomAD
NRP1	O14786	p.Leu557Phe	rs190763052	missense variant	-	NC_000010.11:g.33207662G>A	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Leu557Val	rs190763052	missense variant	-	NC_000010.11:g.33207662G>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Thr559Met	rs143124682	missense variant	-	NC_000010.11:g.33207655G>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg560Gly	rs374062923	missense variant	-	NC_000010.11:g.33207653G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg560Ter	rs374062923	stop gained	-	NC_000010.11:g.33207653G>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg560ArgTerUnk	rs764907882	stop gained	-	NC_000010.11:g.33207652_33207653insTACC	ExAC,gnomAD
NRP1	O14786	p.Arg560Gln	rs773172539	missense variant	-	NC_000010.11:g.33207652C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Phe561Ile	rs376983601	missense variant	-	NC_000010.11:g.33207650A>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Phe561Leu	rs2228637	missense variant	-	NC_000010.11:g.33207648G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile562Leu	rs1163132501	missense variant	-	NC_000010.11:g.33207647T>G	gnomAD
NRP1	O14786	p.Arg563Lys	COSM3867132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33207643C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Ile564Phe	rs1445076308	missense variant	-	NC_000010.11:g.33207641T>A	TOPMed
NRP1	O14786	p.Ile564Thr	rs1384816655	missense variant	-	NC_000010.11:g.33207640A>G	TOPMed,gnomAD
NRP1	O14786	p.Tyr565His	rs776598307	missense variant	-	NC_000010.11:g.33207638A>G	ExAC,gnomAD
NRP1	O14786	p.Pro566Thr	rs1389697580	missense variant	-	NC_000010.11:g.33207635G>T	TOPMed,gnomAD
NRP1	O14786	p.Glu567Gly	rs1463719475	missense variant	-	NC_000010.11:g.33207631T>C	gnomAD
NRP1	O14786	p.Glu567Lys	rs746545228	missense variant	-	NC_000010.11:g.33207632C>T	ExAC,gnomAD
NRP1	O14786	p.Thr570Ser	rs950528977	missense variant	-	NC_000010.11:g.33207622G>C	TOPMed
NRP1	O14786	p.His571Arg	rs771747547	missense variant	-	NC_000010.11:g.33207619T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.His571Leu	rs771747547	missense variant	-	NC_000010.11:g.33207619T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly573Arg	rs778160256	missense variant	-	NC_000010.11:g.33207614C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly573Glu	COSM4874375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33207613C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Leu574Val	rs569952285	missense variant	-	NC_000010.11:g.33207611G>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg577Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33207601C>G	NCI-TCGA
NRP1	O14786	p.Leu580Met	rs61760419	missense variant	-	NC_000010.11:g.33207593G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu584Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33207581C>A	NCI-TCGA
NRP1	O14786	p.Glu584Lys	rs1457045538	missense variant	-	NC_000010.11:g.33207581C>T	TOPMed
NRP1	O14786	p.Val585Ala	rs758712396	missense variant	-	NC_000010.11:g.33207577A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val585Gly	rs758712396	missense variant	-	NC_000010.11:g.33207577A>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu586Lys	COSM3807096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33207575C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Ala587Val	rs754732280	missense variant	-	NC_000010.11:g.33202995G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala587Thr	rs750648742	missense variant	-	NC_000010.11:g.33207572C>T	ExAC,gnomAD
NRP1	O14786	p.Ala590Thr	rs568996715	missense variant	-	NC_000010.11:g.33202987C>T	TOPMed,gnomAD
NRP1	O14786	p.Ala590Pro	rs568996715	missense variant	-	NC_000010.11:g.33202987C>G	TOPMed,gnomAD
NRP1	O14786	p.Gly591Glu	rs747034072	missense variant	-	NC_000010.11:g.33202983C>T	ExAC,gnomAD
NRP1	O14786	p.Pro592Leu	rs201038869	missense variant	-	NC_000010.11:g.33202980G>A	1000Genomes,TOPMed,gnomAD
NRP1	O14786	p.Pro592Gln	rs201038869	missense variant	-	NC_000010.11:g.33202980G>T	1000Genomes,TOPMed,gnomAD
NRP1	O14786	p.Thr593Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33202977G>C	NCI-TCGA
NRP1	O14786	p.Thr594Ile	rs377066073	missense variant	-	NC_000010.11:g.33202974G>A	ESP,ExAC,gnomAD
NRP1	O14786	p.Pro595His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33202971G>T	NCI-TCGA
NRP1	O14786	p.Asn596Lys	rs147055093	missense variant	-	NC_000010.11:g.33202967G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly597Arg	rs141633354	missense variant	-	NC_000010.11:g.33202966C>G	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly597Glu	rs1428559055	missense variant	-	NC_000010.11:g.33202965C>T	TOPMed,gnomAD
NRP1	O14786	p.Gly597Arg	rs141633354	missense variant	-	NC_000010.11:g.33202966C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu599Phe	rs148041491	missense variant	-	NC_000010.11:g.33202958C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val600Ala	rs554875974	missense variant	-	NC_000010.11:g.33202956A>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu602Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33202949T>G	NCI-TCGA
NRP1	O14786	p.Cys603Trp	rs890907414	missense variant	-	NC_000010.11:g.33202946A>C	TOPMed,gnomAD
NRP1	O14786	p.Asp604Val	rs1164063912	missense variant	-	NC_000010.11:g.33202944T>A	TOPMed
NRP1	O14786	p.Asp605Glu	rs148913335	missense variant	-	NC_000010.11:g.33202940G>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp606Asn	rs766803868	missense variant	-	NC_000010.11:g.33202939C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gln607Arg	rs1430430503	missense variant	-	NC_000010.11:g.33202935T>C	gnomAD
NRP1	O14786	p.Ala608Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33202933C>T	NCI-TCGA
NRP1	O14786	p.Asn609Ser	rs773185314	missense variant	-	NC_000010.11:g.33202929T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Cys610Tyr	rs1485190718	missense variant	-	NC_000010.11:g.33202926C>T	gnomAD
NRP1	O14786	p.Ser612Cys	rs776830169	missense variant	-	NC_000010.11:g.33202921T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser612Gly	rs776830169	missense variant	-	NC_000010.11:g.33202921T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly613Glu	rs768496698	missense variant	-	NC_000010.11:g.33202917C>T	ExAC,gnomAD
NRP1	O14786	p.Asp616Gly	rs374297417	missense variant	-	NC_000010.11:g.33202908T>C	ESP,TOPMed
NRP1	O14786	p.Phe618Leu	rs1183541610	missense variant	-	NC_000010.11:g.33202901G>C	TOPMed,gnomAD
NRP1	O14786	p.Phe618Val	rs1349348397	missense variant	-	NC_000010.11:g.33202903A>C	TOPMed
NRP1	O14786	p.Gln619His	rs746791525	missense variant	-	NC_000010.11:g.33202898C>A	ExAC,gnomAD
NRP1	O14786	p.Gln619Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33202900G>A	NCI-TCGA
NRP1	O14786	p.Gly622Asp	rs747818891	missense variant	-	NC_000010.11:g.33197709C>T	ExAC,gnomAD
NRP1	O14786	p.Val626Met	rs750790418	missense variant	-	NC_000010.11:g.33197698C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val626Ala	rs1453286273	missense variant	-	NC_000010.11:g.33197697A>G	gnomAD
NRP1	O14786	p.Val626Leu	rs750790418	missense variant	-	NC_000010.11:g.33197698C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr629Ser	COSM6129262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33197689T>A	NCI-TCGA Cosmic
NRP1	O14786	p.Glu630Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.33197686C>A	NCI-TCGA
NRP1	O14786	p.Thr633Met	rs201288994	missense variant	-	NC_000010.11:g.33197676G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val634Ile	rs757782302	missense variant	-	NC_000010.11:g.33197674C>T	ExAC,gnomAD
NRP1	O14786	p.Ile635Thr	rs563594298	missense variant	-	NC_000010.11:g.33197670A>G	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Asp636Asn	rs145594886	missense variant	-	NC_000010.11:g.33197668C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser637Arg	rs1488877452	missense variant	-	NC_000010.11:g.33197663G>T	TOPMed,gnomAD
NRP1	O14786	p.Ser641Pro	rs752665390	missense variant	-	NC_000010.11:g.33197653A>G	ExAC,gnomAD
NRP1	O14786	p.Phe643Val	rs1301385201	missense variant	-	NC_000010.11:g.33192416A>C	TOPMed,gnomAD
NRP1	O14786	p.Thr645Ala	rs1447492538	missense variant	-	NC_000010.11:g.33192410T>C	gnomAD
NRP1	O14786	p.Tyr646Cys	rs770248476	missense variant	-	NC_000010.11:g.33192406T>C	ExAC,gnomAD
NRP1	O14786	p.Glu651Ala	rs1379231419	missense variant	-	NC_000010.11:g.33192391T>G	TOPMed
NRP1	O14786	p.Trp654Ter	COSM3437377	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.33192382C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Gly655Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33192379C>A	NCI-TCGA
NRP1	O14786	p.Ser656Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33192376G>T	NCI-TCGA
NRP1	O14786	p.Ser656Cys	COSM6129263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33192376G>C	NCI-TCGA Cosmic
NRP1	O14786	p.Thr659Ser	rs777065128	missense variant	-	NC_000010.11:g.33192368T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Phe660LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.33192364_33192365AA>-	NCI-TCGA
NRP1	O14786	p.Phe660Ile	rs1450856854	missense variant	-	NC_000010.11:g.33192365A>T	gnomAD
NRP1	O14786	p.Phe660Leu	COSM917827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33192363G>T	NCI-TCGA Cosmic
NRP1	O14786	p.Cys661MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.33192362_33192363insT	NCI-TCGA
NRP1	O14786	p.Cys661Arg	rs1367824389	missense variant	-	NC_000010.11:g.33192362A>G	TOPMed
NRP1	O14786	p.Trp663GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.33192357G>-	NCI-TCGA
NRP1	O14786	p.His668Gln	rs200822773	missense variant	-	NC_000010.11:g.33192339G>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Val669Gly	rs1239008699	missense variant	-	NC_000010.11:g.33192337A>C	gnomAD
NRP1	O14786	p.Val669Leu	rs529913964	missense variant	-	NC_000010.11:g.33192338C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val669Met	COSM917826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33192338C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Gln670Leu	rs1202125848	missense variant	-	NC_000010.11:g.33192334T>A	gnomAD
NRP1	O14786	p.Gln670Lys	rs936954579	missense variant	-	NC_000010.11:g.33192335G>T	TOPMed
NRP1	O14786	p.Leu671His	rs1422090938	missense variant	-	NC_000010.11:g.33192331A>T	gnomAD
NRP1	O14786	p.Leu671Phe	rs1341153445	missense variant	-	NC_000010.11:g.33192332G>A	gnomAD
NRP1	O14786	p.Lys672Glu	COSM4013897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33192329T>C	NCI-TCGA Cosmic
NRP1	O14786	p.Trp673Ter	COSM3437376	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.33192324C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Lys679Arg	rs1230520956	missense variant	-	NC_000010.11:g.33192307T>C	gnomAD
NRP1	O14786	p.Thr680Ala	rs1344416935	missense variant	-	NC_000010.11:g.33192305T>C	gnomAD
NRP1	O14786	p.Thr680Met	rs779018926	missense variant	-	NC_000010.11:g.33192304G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro682His	rs1246960150	missense variant	-	NC_000010.11:g.33192298G>T	TOPMed
NRP1	O14786	p.Ile683Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33192296T>C	NCI-TCGA
NRP1	O14786	p.His686Tyr	COSM3437375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33192287G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Asn691Ser	rs146457862	missense variant	-	NC_000010.11:g.33186479T>C	ESP,ExAC,gnomAD
NRP1	O14786	p.Tyr694Phe	rs1014613111	missense variant	-	NC_000010.11:g.33186470T>A	TOPMed,gnomAD
NRP1	O14786	p.Ser695Tyr	rs374499493	missense variant	-	NC_000010.11:g.33186467G>T	ESP,ExAC,gnomAD
NRP1	O14786	p.Ser695Phe	COSM4899704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33186467G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Asp698Glu	rs775930939	missense variant	-	NC_000010.11:g.33186457G>T	ExAC,gnomAD
NRP1	O14786	p.Glu699Lys	rs139081795	missense variant	-	NC_000010.11:g.33186456C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asn700Ser	rs1456408688	missense variant	-	NC_000010.11:g.33186452T>C	gnomAD
NRP1	O14786	p.Gln701Pro	rs1303790632	missense variant	-	NC_000010.11:g.33186449T>G	TOPMed
NRP1	O14786	p.Lys702Asn	rs530474285	missense variant	-	NC_000010.11:g.33186445C>A	TOPMed
NRP1	O14786	p.Lys704Glu	rs760041017	missense variant	-	NC_000010.11:g.33186441T>C	ExAC,gnomAD
NRP1	O14786	p.Val705Ala	rs1160900157	missense variant	-	NC_000010.11:g.33186437A>G	TOPMed,gnomAD
NRP1	O14786	p.Ala706Val	rs774346921	missense variant	-	NC_000010.11:g.33186434G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg707Pro	rs150891261	missense variant	-	NC_000010.11:g.33186431C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg707Leu	rs150891261	missense variant	-	NC_000010.11:g.33186431C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg707Cys	rs1376849398	missense variant	-	NC_000010.11:g.33186432G>A	gnomAD
NRP1	O14786	p.Arg707His	rs150891261	missense variant	-	NC_000010.11:g.33186431C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu708Pro	rs773413750	missense variant	-	NC_000010.11:g.33186428A>G	ExAC,gnomAD
NRP1	O14786	p.Val709Leu	rs747937442	missense variant	-	NC_000010.11:g.33186426C>A	ExAC,gnomAD
NRP1	O14786	p.Val709Leu	rs747937442	missense variant	-	NC_000010.11:g.33186426C>G	ExAC,gnomAD
NRP1	O14786	p.Val709Gly	rs1186703492	missense variant	-	NC_000010.11:g.33186425A>C	gnomAD
NRP1	O14786	p.Val709Met	rs747937442	missense variant	-	NC_000010.11:g.33186426C>T	ExAC,gnomAD
NRP1	O14786	p.Pro711Ser	rs1464471836	missense variant	-	NC_000010.11:g.33186420G>A	TOPMed,gnomAD
NRP1	O14786	p.Pro711Ala	rs1464471836	missense variant	-	NC_000010.11:g.33186420G>C	TOPMed,gnomAD
NRP1	O14786	p.Val713Ile	rs780997720	missense variant	-	NC_000010.11:g.33186414C>T	ExAC,gnomAD
NRP1	O14786	p.Ser718Thr	rs746941565	missense variant	-	NC_000010.11:g.33186399A>T	ExAC,gnomAD
NRP1	O14786	p.Ser718Pro	rs746941565	missense variant	-	NC_000010.11:g.33186399A>G	ExAC,gnomAD
NRP1	O14786	p.Ala719Thr	rs779467840	missense variant	-	NC_000010.11:g.33186396C>T	ExAC,gnomAD
NRP1	O14786	p.His720Arg	rs1244672329	missense variant	-	NC_000010.11:g.33186392T>C	TOPMed
NRP1	O14786	p.Met722Leu	rs1015836785	missense variant	-	NC_000010.11:g.33186387T>G	TOPMed,gnomAD
NRP1	O14786	p.Met722Val	rs1015836785	missense variant	-	NC_000010.11:g.33186387T>C	TOPMed,gnomAD
NRP1	O14786	p.Thr723Asn	rs1433776872	missense variant	-	NC_000010.11:g.33186383G>T	gnomAD
NRP1	O14786	p.His727Tyr	rs1365277992	missense variant	-	NC_000010.11:g.33186372G>A	gnomAD
NRP1	O14786	p.Ser729Thr	rs1182856724	missense variant	-	NC_000010.11:g.33186366A>T	TOPMed
NRP1	O14786	p.Ser731Phe	rs757977129	missense variant	-	NC_000010.11:g.33186359G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.His732Gln	rs376053165	missense variant	-	NC_000010.11:g.33186355G>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.His732Arg	rs750158069	missense variant	-	NC_000010.11:g.33186356T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val733Ile	rs2228638	missense variant	-	NC_000010.11:g.33186354C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly734Ser	rs767902777	missense variant	-	NC_000010.11:g.33186351C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly734Val	rs760005002	missense variant	-	NC_000010.11:g.33186350C>A	ExAC,gnomAD
NRP1	O14786	p.Thr735Ile	rs766507281	missense variant	-	NC_000010.11:g.33186347G>A	ExAC,gnomAD
NRP1	O14786	p.Lys739Gln	COSM4403986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33186336T>G	NCI-TCGA Cosmic
NRP1	O14786	p.Arg741His	rs554872876	missense variant	-	NC_000010.11:g.33186329C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg741Cys	rs944958142	missense variant	-	NC_000010.11:g.33186330G>A	TOPMed
NRP1	O14786	p.Tyr742His	rs1433051547	missense variant	-	NC_000010.11:g.33186327A>G	TOPMed
NRP1	O14786	p.Glu746Asp	COSM1347660	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33186313C>A	NCI-TCGA Cosmic
NRP1	O14786	p.Glu747Asp	rs1350476471	missense variant	-	NC_000010.11:g.33186310C>A	gnomAD
NRP1	O14786	p.Asp749Tyr	rs566477081	missense variant	-	NC_000010.11:g.33186306C>A	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Asp749Asn	rs566477081	missense variant	-	NC_000010.11:g.33186306C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Gln750Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33186303G>T	NCI-TCGA
NRP1	O14786	p.Gln750Pro	rs374865894	missense variant	-	NC_000010.11:g.33186302T>G	ESP,ExAC,gnomAD
NRP1	O14786	p.Val752Ile	rs746985525	missense variant	-	NC_000010.11:g.33186297C>T	ExAC,gnomAD
NRP1	O14786	p.Val752Phe	rs746985525	missense variant	-	NC_000010.11:g.33186297C>A	ExAC,gnomAD
NRP1	O14786	p.Met754Ile	rs780027653	missense variant	-	NC_000010.11:g.33186289C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile756Met	rs1014030560	missense variant	-	NC_000010.11:g.33186283A>C	gnomAD
NRP1	O14786	p.Ile756Thr	rs772069753	missense variant	-	NC_000010.11:g.33186284A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gln759Glu	rs745403355	missense variant	-	NC_000010.11:g.33186276G>C	ExAC,gnomAD
NRP1	O14786	p.Gly760Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33186273C>A	NCI-TCGA
NRP1	O14786	p.Gly760Asp	rs370641686	missense variant	-	NC_000010.11:g.33186272C>T	ESP,TOPMed,gnomAD
NRP1	O14786	p.Gly760Ser	rs778519380	missense variant	-	NC_000010.11:g.33186273C>T	ExAC,gnomAD
NRP1	O14786	p.His762ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.33186266_33186267insG	NCI-TCGA
NRP1	O14786	p.Arg767His	rs148799934	missense variant	-	NC_000010.11:g.33186251C>T	ESP,TOPMed,gnomAD
NRP1	O14786	p.Arg767Cys	rs924149280	missense variant	-	NC_000010.11:g.33186252G>A	TOPMed
NRP1	O14786	p.Lys772Glu	rs757021030	missense variant	-	NC_000010.11:g.33186237T>C	ExAC,gnomAD
NRP1	O14786	p.Ser773Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33186233G>T	NCI-TCGA
NRP1	O14786	p.Leu774Pro	rs753501647	missense variant	-	NC_000010.11:g.33186230A>G	ExAC,gnomAD
NRP1	O14786	p.Tyr777His	rs1486897650	missense variant	-	NC_000010.11:g.33186222A>G	gnomAD
NRP1	O14786	p.Tyr777Phe	rs1409925844	missense variant	-	NC_000010.11:g.33186221T>A	gnomAD
NRP1	O14786	p.Val779Leu	rs775108406	missense variant	-	NC_000010.11:g.33185724C>A	ExAC,gnomAD
NRP1	O14786	p.Gly783Asp	rs1235145790	missense variant	-	NC_000010.11:g.33185711C>T	gnomAD
NRP1	O14786	p.Glu784Lys	rs373328655	missense variant	-	NC_000010.11:g.33185709C>T	1000Genomes,ESP,ExAC,gnomAD
NRP1	O14786	p.Gly786Arg	rs777499693	missense variant	-	NC_000010.11:g.33185703C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly788Glu	rs148330417	missense variant	-	NC_000010.11:g.33185696C>T	ExAC,gnomAD
NRP1	O14786	p.Gly791Cys	rs550284385	missense variant	-	NC_000010.11:g.33185688C>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly791Asp	rs370117610	missense variant	-	NC_000010.11:g.33185687C>T	ESP,ExAC,gnomAD
NRP1	O14786	p.Gly791Arg	rs550284385	missense variant	-	NC_000010.11:g.33185688C>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val795Met	rs1330613852	missense variant	-	NC_000010.11:g.33185676C>T	gnomAD
NRP1	O14786	p.Asp797His	rs757346128	missense variant	-	NC_000010.11:g.33185670C>G	ExAC,gnomAD
NRP1	O14786	p.Ser799Asn	rs1283585996	missense variant	-	NC_000010.11:g.33185663C>T	TOPMed
NRP1	O14786	p.Asn802Lys	rs1346992017	missense variant	-	NC_000010.11:g.33185653G>T	TOPMed
NRP1	O14786	p.His803Tyr	rs753801764	missense variant	-	NC_000010.11:g.33185652G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile804Leu	rs764409827	missense variant	-	NC_000010.11:g.33185649T>G	ExAC,gnomAD
NRP1	O14786	p.Gln806His	rs760760392	missense variant	-	NC_000010.11:g.33185641T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu807Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33185640C>G	NCI-TCGA
NRP1	O14786	p.Glu807Ala	rs775477172	missense variant	-	NC_000010.11:g.33185639T>G	ExAC,gnomAD
NRP1	O14786	p.Ala810Val	rs1477961818	missense variant	-	NC_000010.11:g.33185630G>A	gnomAD
NRP1	O14786	p.Asp814Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33182740C>A	NCI-TCGA
NRP1	O14786	p.Asp816Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33182734C>T	NCI-TCGA
NRP1	O14786	p.Lys818Gln	rs1447208247	missense variant	-	NC_000010.11:g.33182728T>G	TOPMed,gnomAD
NRP1	O14786	p.Lys818Asn	rs764058650	missense variant	-	NC_000010.11:g.33182726C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asn819Tyr	rs1188820892	missense variant	-	NC_000010.11:g.33182725T>A	gnomAD
NRP1	O14786	p.Pro820Thr	rs756401925	missense variant	-	NC_000010.11:g.33182722G>T	ExAC,gnomAD
NRP1	O14786	p.Pro820Leu	rs1381061538	missense variant	-	NC_000010.11:g.33182721G>A	TOPMed
NRP1	O14786	p.Glu821Ter	rs1235553581	stop gained	-	NC_000010.11:g.33182719C>A	gnomAD
NRP1	O14786	p.Ile822Leu	rs972629078	missense variant	-	NC_000010.11:g.33182716T>G	TOPMed
NRP1	O14786	p.Ile822Val	rs972629078	missense variant	-	NC_000010.11:g.33182716T>C	TOPMed
NRP1	O14786	p.Ile824Thr	rs201570278	missense variant	-	NC_000010.11:g.33182709A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp825Gly	rs767480570	missense variant	-	NC_000010.11:g.33182706T>C	ExAC,gnomAD
NRP1	O14786	p.Thr827Arg	rs759421479	missense variant	-	NC_000010.11:g.33182700G>C	ExAC,gnomAD
NRP1	O14786	p.Thr830Met	rs750320738	missense variant	-	NC_000010.11:g.33180359G>A	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Thr830Met	rs750320738	missense variant	-	NC_000010.11:g.33180359G>A	ExAC,gnomAD
NRP1	O14786	p.Gly832Glu	rs1257885477	missense variant	-	NC_000010.11:g.33180353C>T	TOPMed,gnomAD
NRP1	O14786	p.Glu834Asp	rs936099600	missense variant	-	NC_000010.11:g.33180346T>A	gnomAD
NRP1	O14786	p.Glu834Ter	rs150351789	stop gained	-	NC_000010.11:g.33180348C>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu834Lys	rs150351789	missense variant	-	NC_000010.11:g.33180348C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu836Lys	rs760298219	missense variant	-	NC_000010.11:g.33180342C>T	NCI-TCGA,NCI-TCGA Cosmic
NRP1	O14786	p.Glu836Lys	rs760298219	missense variant	-	NC_000010.11:g.33180342C>T	ExAC,gnomAD
NRP1	O14786	p.Gly837Arg	COSM3437373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33180339C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Glu838Lys	rs774819716	missense variant	-	NC_000010.11:g.33180336C>T	ExAC,gnomAD
NRP1	O14786	p.Gly839Arg	rs771196307	missense variant	-	NC_000010.11:g.33180333C>G	ExAC,gnomAD
NRP1	O14786	p.Gly839Cys	rs771196307	missense variant	-	NC_000010.11:g.33180333C>A	ExAC,gnomAD
NRP1	O14786	p.Asp840Val	rs1252527101	missense variant	-	NC_000010.11:g.33180329T>A	TOPMed,gnomAD
NRP1	O14786	p.Asp840Asn	rs540022294	missense variant	-	NC_000010.11:g.33180330C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Asp840Gly	rs1252527101	missense variant	-	NC_000010.11:g.33180329T>C	TOPMed,gnomAD
NRP1	O14786	p.Lys841Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180326T>G	NCI-TCGA
NRP1	O14786	p.Ile843Val	rs770361179	missense variant	-	NC_000010.11:g.33180321T>C	ExAC,gnomAD
NRP1	O14786	p.Ile843Thr	rs940939644	missense variant	-	NC_000010.11:g.33180320A>G	TOPMed,gnomAD
NRP1	O14786	p.Ser844Phe	rs1221143595	missense variant	-	NC_000010.11:g.33180317G>A	gnomAD
NRP1	O14786	p.Arg845Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180314C>T	NCI-TCGA
NRP1	O14786	p.Lys846Met	rs781376715	missense variant	-	NC_000010.11:g.33180311T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys846Asn	rs755296281	missense variant	-	NC_000010.11:g.33180310C>G	ExAC,gnomAD
NRP1	O14786	p.Pro847Ala	rs568761627	missense variant	-	NC_000010.11:g.33180309G>C	TOPMed,gnomAD
NRP1	O14786	p.Gly848Asp	rs774860746	missense variant	-	NC_000010.11:g.33180305C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asn849Asp	rs200321543	missense variant	-	NC_000010.11:g.33180303T>C	1000Genomes
NRP1	O14786	p.Val850Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180300C>G	NCI-TCGA
NRP1	O14786	p.Asp855Glu	rs1048803	missense variant	-	NC_000010.11:g.33180283G>T	ExAC,gnomAD
NRP1	O14786	p.Pro856Thr	rs761698307	missense variant	-	NC_000010.11:g.33180282G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile857Val	rs1454993218	missense variant	-	NC_000010.11:g.33180279T>C	TOPMed
NRP1	O14786	p.Ile857Met	rs144845322	missense variant	-	NC_000010.11:g.33180277G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu858Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180276G>A	NCI-TCGA
NRP1	O14786	p.Ile859Leu	rs760388137	missense variant	-	NC_000010.11:g.33180273T>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr860Ser	rs774993945	missense variant	-	NC_000010.11:g.33180270T>A	ExAC,gnomAD
NRP1	O14786	p.Ile861Val	rs767142032	missense variant	-	NC_000010.11:g.33180267T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile862Leu	rs763234318	missense variant	-	NC_000010.11:g.33180264T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile862Val	rs763234318	missense variant	-	NC_000010.11:g.33180264T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala863Val	COSM1474598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33180260G>A	NCI-TCGA Cosmic
NRP1	O14786	p.Ser865Asn	COSM4013893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33180254C>T	NCI-TCGA Cosmic
NRP1	O14786	p.Ala866Thr	rs548175518	missense variant	-	NC_000010.11:g.33180252C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala866Asp	rs748639459	missense variant	-	NC_000010.11:g.33180251G>T	ExAC
NRP1	O14786	p.Leu867Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180249G>T	NCI-TCGA
NRP1	O14786	p.Val869Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180243C>G	NCI-TCGA
NRP1	O14786	p.Val869Ile	rs1255187775	missense variant	-	NC_000010.11:g.33180243C>T	gnomAD
NRP1	O14786	p.Leu870Phe	rs768849994	missense variant	-	NC_000010.11:g.33180240G>A	ExAC,gnomAD
NRP1	O14786	p.Ala873Thr	rs1310915221	missense variant	-	NC_000010.11:g.33180231C>T	gnomAD
NRP1	O14786	p.Val874Ile	rs567261830	missense variant	-	NC_000010.11:g.33180228C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val874Leu	rs567261830	missense variant	-	NC_000010.11:g.33180228C>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Cys875Ser	rs142822518	missense variant	-	NC_000010.11:g.33180224C>G	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Gly876Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180221C>T	NCI-TCGA
NRP1	O14786	p.Val877Phe	rs778630230	missense variant	-	NC_000010.11:g.33180219C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val877Ile	rs778630230	missense variant	-	NC_000010.11:g.33180219C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val878Ala	rs566437913	missense variant	-	NC_000010.11:g.33180215A>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val878Met	rs200330871	missense variant	-	NC_000010.11:g.33180216C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val878Met	rs200330871	missense variant	-	NC_000010.11:g.33180216C>T	NCI-TCGA
NRP1	O14786	p.Cys881Tyr	rs551199073	missense variant	-	NC_000010.11:g.33180206C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Cys881Arg	rs1239752717	missense variant	-	NC_000010.11:g.33180207A>G	TOPMed
NRP1	O14786	p.Ala882Asp	rs1377047297	missense variant	-	NC_000010.11:g.33180203G>T	TOPMed,gnomAD
NRP1	O14786	p.Cys883Ser	rs767109785	missense variant	-	NC_000010.11:g.33180201A>T	ExAC,gnomAD
NRP1	O14786	p.Trp884Ter	rs1454813225	stop gained	-	NC_000010.11:g.33180197C>T	gnomAD
NRP1	O14786	p.His885Arg	rs1186925076	missense variant	-	NC_000010.11:g.33180194T>C	gnomAD
NRP1	O14786	p.His885Tyr	rs1396890390	missense variant	-	NC_000010.11:g.33180195G>A	gnomAD
NRP1	O14786	p.Asn886Thr	rs143988888	missense variant	-	NC_000010.11:g.33180191T>G	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asn886Lys	rs532941278	missense variant	-	NC_000010.11:g.33180190A>T	1000Genomes,gnomAD
NRP1	O14786	p.Met888Leu	rs762474175	missense variant	-	NC_000010.11:g.33180186T>A	ExAC,gnomAD
NRP1	O14786	p.Ser889Pro	rs1015021561	missense variant	-	NC_000010.11:g.33180183A>G	gnomAD
NRP1	O14786	p.Arg891Ile	COSM1347659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.33180176C>A	NCI-TCGA Cosmic
NRP1	O14786	p.Leu893Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180169C>A	NCI-TCGA
NRP1	O14786	p.Ala895Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180165C>A	NCI-TCGA
NRP1	O14786	p.Glu897Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.33180157C>A	NCI-TCGA
NRP1	O14786	p.Glu897Gln	rs777261396	missense variant	-	NC_000010.11:g.33180159C>G	ExAC,gnomAD
NRP1	O14786	p.Tyr899Cys	rs769226149	missense variant	-	NC_000010.11:g.33180152T>C	ExAC,gnomAD
NRP1	O14786	p.Leu903Arg	rs967172509	missense variant	-	NC_000010.11:g.33180140A>C	TOPMed
NRP1	O14786	p.Asp905Gly	rs1433057157	missense variant	-	NC_000010.11:g.33180134T>C	gnomAD
NRP1	O14786	p.Leu909Trp	rs775598824	missense variant	-	NC_000010.11:g.33180122A>C	ExAC,gnomAD
NRP1	O14786	p.Asp912Gly	rs1394130158	missense variant	-	NC_000010.11:g.33180113T>C	gnomAD
NRP1	O14786	p.Leu914Arg	rs772205833	missense variant	-	NC_000010.11:g.33180107A>C	ExAC,gnomAD
NRP1	O14786	p.Asn915Lys	rs746072156	missense variant	-	NC_000010.11:g.33180103A>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gln917His	rs1158664603	missense variant	-	NC_000010.11:g.33180097C>G	gnomAD
NRP1	O14786	p.Gln917His	rs1158664603	missense variant	-	NC_000010.11:g.33180097C>G	NCI-TCGA Cosmic
NRP1	O14786	p.Ser918Arg	rs778746900	missense variant	-	NC_000010.11:g.33180096T>G	ExAC,gnomAD
NRP1	O14786	p.Ser921Ter	rs1265772039	stop gained	-	NC_000010.11:g.33180086G>T	TOPMed
NRP1	O14786	p.Ala923Ser	rs749026902	missense variant	-	NC_000010.11:g.33180081C>A	ExAC,TOPMed
NRP1	O14786	p.Glu2Asp	rs1482222602	missense variant	-	NC_000010.11:g.33334377C>A	gnomAD
NRP1	O14786	p.Arg3Lys	rs866275912	missense variant	-	NC_000010.11:g.33334375C>T	TOPMed
NRP1	O14786	p.Arg3Thr	rs866275912	missense variant	-	NC_000010.11:g.33334375C>G	TOPMed
NRP1	O14786	p.Arg3Ser	rs953208828	missense variant	-	NC_000010.11:g.33334374C>G	TOPMed,gnomAD
NRP1	O14786	p.Arg3Gly	rs757732321	missense variant	-	NC_000010.11:g.33334376T>C	ExAC,gnomAD
NRP1	O14786	p.Leu7Phe	rs1282658453	missense variant	-	NC_000010.11:g.33334364G>A	gnomAD
NRP1	O14786	p.Leu7Pro	rs764282718	missense variant	-	NC_000010.11:g.33334363A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu8Ile	rs760822303	missense variant	-	NC_000010.11:g.33334361G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu8Phe	rs760822303	missense variant	-	NC_000010.11:g.33334361G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Cys9Gly	rs1341197483	missense variant	-	NC_000010.11:g.33334358A>C	TOPMed
NRP1	O14786	p.Leu14Arg	rs1311811089	missense variant	-	NC_000010.11:g.33334342A>C	gnomAD
NRP1	O14786	p.Leu14Phe	rs1377623827	missense variant	-	NC_000010.11:g.33334343G>A	TOPMed,gnomAD
NRP1	O14786	p.Leu14Val	rs1377623827	missense variant	-	NC_000010.11:g.33334343G>C	TOPMed,gnomAD
NRP1	O14786	p.Val15Ala	rs374322029	missense variant	-	NC_000010.11:g.33334339A>G	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu16Ile	rs1166283194	missense variant	-	NC_000010.11:g.33334337G>T	gnomAD
NRP1	O14786	p.Pro18Thr	rs1373477482	missense variant	-	NC_000010.11:g.33334331G>T	gnomAD
NRP1	O14786	p.Ala19Thr	rs1422054694	missense variant	-	NC_000010.11:g.33334328C>T	TOPMed,gnomAD
NRP1	O14786	p.Gly20Ser	rs1255367960	missense variant	-	NC_000010.11:g.33334325C>T	TOPMed,gnomAD
NRP1	O14786	p.Gly20Cys	rs1255367960	missense variant	-	NC_000010.11:g.33334325C>A	TOPMed,gnomAD
NRP1	O14786	p.Ala21Asp	rs1486018391	missense variant	-	NC_000010.11:g.33334321G>T	gnomAD
NRP1	O14786	p.Ala21Thr	rs894220185	missense variant	-	NC_000010.11:g.33334322C>T	gnomAD
NRP1	O14786	p.Arg23Cys	rs770720421	missense variant	-	NC_000010.11:g.33334316G>A	ExAC
NRP1	O14786	p.Asn24Ser	rs1259904998	missense variant	-	NC_000010.11:g.33334312T>C	gnomAD
NRP1	O14786	p.Asn24Asp	rs1174726719	missense variant	-	NC_000010.11:g.33334313T>C	TOPMed
NRP1	O14786	p.Asp25His	rs1338952516	missense variant	-	NC_000010.11:g.33334310C>G	gnomAD
NRP1	O14786	p.Asp29Asn	rs374276976	missense variant	-	NC_000010.11:g.33330871C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp29Val	rs1386346760	missense variant	-	NC_000010.11:g.33330870T>A	gnomAD
NRP1	O14786	p.Ile31Thr	rs867341914	missense variant	-	NC_000010.11:g.33330864A>G	TOPMed,gnomAD
NRP1	O14786	p.Lys32Arg	rs1258659568	missense variant	-	NC_000010.11:g.33330861T>C	TOPMed
NRP1	O14786	p.Ile33Met	rs759708920	missense variant	-	NC_000010.11:g.33330857A>C	ExAC,gnomAD
NRP1	O14786	p.Ser35Asn	rs1184185740	missense variant	-	NC_000010.11:g.33330852C>T	gnomAD
NRP1	O14786	p.Pro36Leu	rs751738413	missense variant	-	NC_000010.11:g.33330849G>A	ExAC
NRP1	O14786	p.Tyr44Phe	rs1270349204	missense variant	-	NC_000010.11:g.33330825T>A	TOPMed
NRP1	O14786	p.Pro45Ser	rs1479432602	missense variant	-	NC_000010.11:g.33330823G>A	TOPMed
NRP1	O14786	p.His49Gln	rs964215241	missense variant	-	NC_000010.11:g.33330809G>C	TOPMed
NRP1	O14786	p.His49Tyr	rs761687731	missense variant	-	NC_000010.11:g.33330811G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro50Ser	rs1402299798	missense variant	-	NC_000010.11:g.33330808G>A	TOPMed
NRP1	O14786	p.Ser51Asn	rs1156630275	missense variant	-	NC_000010.11:g.33330804C>T	TOPMed
NRP1	O14786	p.Lys53Glu	rs776148094	missense variant	-	NC_000010.11:g.33330799T>C	ExAC,gnomAD
NRP1	O14786	p.Cys54Arg	rs768142109	missense variant	-	NC_000010.11:g.33330796A>G	ExAC,gnomAD
NRP1	O14786	p.Glu55Lys	rs1230660558	missense variant	-	NC_000010.11:g.33330793C>T	gnomAD
NRP1	O14786	p.Gln59Glu	rs779741661	missense variant	-	NC_000010.11:g.33330781G>C	ExAC,gnomAD
NRP1	O14786	p.Gln59Arg	rs1303960267	missense variant	-	NC_000010.11:g.33330780T>C	gnomAD
NRP1	O14786	p.Pro61Leu	rs771267477	missense variant	-	NC_000010.11:g.33330774G>A	ExAC,gnomAD
NRP1	O14786	p.Asp62Glu	rs1358919959	missense variant	-	NC_000010.11:g.33330770G>T	TOPMed
NRP1	O14786	p.Pro63Ser	rs1419281327	missense variant	-	NC_000010.11:g.33330769G>A	TOPMed
NRP1	O14786	p.Gln65Arg	rs371886197	missense variant	-	NC_000010.11:g.33330762T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg66Thr	rs1385818807	missense variant	-	NC_000010.11:g.33330759C>G	gnomAD
NRP1	O14786	p.Met68Val	rs781138129	missense variant	-	NC_000010.11:g.33330754T>C	ExAC,gnomAD
NRP1	O14786	p.Met68Ile	rs751789763	missense variant	-	NC_000010.11:g.33330752C>A	ExAC,gnomAD
NRP1	O14786	p.Met68Thr	rs755031065	missense variant	-	NC_000010.11:g.33330753A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro73Leu	rs762780832	missense variant	-	NC_000010.11:g.33330738G>A	ExAC,gnomAD
NRP1	O14786	p.His74Leu	rs750237365	missense variant	-	NC_000010.11:g.33330735T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp76Asn	rs1448051089	missense variant	-	NC_000010.11:g.33330730C>T	gnomAD
NRP1	O14786	p.Asp76Gly	rs1285825996	missense variant	-	NC_000010.11:g.33330729T>C	TOPMed,gnomAD
NRP1	O14786	p.Leu77Phe	rs1346722965	missense variant	-	NC_000010.11:g.33330725C>G	gnomAD
NRP1	O14786	p.Arg80Ter	rs1305279518	stop gained	-	NC_000010.11:g.33330718T>A	TOPMed
NRP1	O14786	p.Lys83Glu	rs775797226	missense variant	-	NC_000010.11:g.33330709T>C	gnomAD
NRP1	O14786	p.Val87Met	rs753783818	missense variant	-	NC_000010.11:g.33270846C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp91Asn	rs533652148	missense variant	-	NC_000010.11:g.33270834C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu95Lys	rs1401090199	missense variant	-	NC_000010.11:g.33270822C>T	gnomAD
NRP1	O14786	p.Asn96Ser	rs767096379	missense variant	-	NC_000010.11:g.33270818T>C	ExAC
NRP1	O14786	p.Asn96Tyr	rs775089363	missense variant	-	NC_000010.11:g.33270819T>A	ExAC,gnomAD
NRP1	O14786	p.Gly97Val	rs759268484	missense variant	-	NC_000010.11:g.33270815C>A	ExAC,gnomAD
NRP1	O14786	p.His98Pro	rs1016982339	missense variant	-	NC_000010.11:g.33270812T>G	TOPMed
NRP1	O14786	p.Arg100Met	rs1163348245	missense variant	-	NC_000010.11:g.33270806C>A	gnomAD
NRP1	O14786	p.Gly101Glu	rs200028992	missense variant	-	NC_000010.11:g.33270803C>T	ExAC,gnomAD
NRP1	O14786	p.Lys102Asn	rs770342995	missense variant	-	NC_000010.11:g.33270799C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys106Glu	rs1338361507	missense variant	-	NC_000010.11:g.33270789T>C	TOPMed
NRP1	O14786	p.Ile107Val	rs748521141	missense variant	-	NC_000010.11:g.33270786T>C	ExAC,gnomAD
NRP1	O14786	p.Ile107Leu	rs748521141	missense variant	-	NC_000010.11:g.33270786T>A	ExAC,gnomAD
NRP1	O14786	p.Ala108Thr	rs777048356	missense variant	-	NC_000010.11:g.33270783C>T	ExAC,gnomAD
NRP1	O14786	p.Pro110Ser	rs766086952	missense variant	-	NC_000010.11:g.33270777G>A	ExAC,TOPMed
NRP1	O14786	p.Pro111Leu	rs377601784	missense variant	-	NC_000010.11:g.33270773G>A	ESP,TOPMed
NRP1	O14786	p.Val113Leu	rs1439297364	missense variant	-	NC_000010.11:g.33270768C>G	gnomAD
NRP1	O14786	p.Pro117Leu	rs780182320	missense variant	-	NC_000010.11:g.33270755G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu119Pro	rs1343522633	missense variant	-	NC_000010.11:g.33270749A>G	TOPMed
NRP1	O14786	p.Leu119Val	rs746144639	missense variant	-	NC_000010.11:g.33270750G>C	ExAC,gnomAD
NRP1	O14786	p.Leu119Ile	rs746144639	missense variant	-	NC_000010.11:g.33270750G>T	ExAC,gnomAD
NRP1	O14786	p.Lys122Thr	rs753645404	missense variant	-	NC_000010.11:g.33270740T>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val124Asp	rs763747196	missense variant	-	NC_000010.11:g.33270734A>T	ExAC,gnomAD
NRP1	O14786	p.Tyr127Ter	rs142912222	stop gained	-	NC_000010.11:g.33270724G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala132Glu	rs1461436045	missense variant	-	NC_000010.11:g.33270710G>T	gnomAD
NRP1	O14786	p.Phe134Leu	rs759105775	missense variant	-	NC_000010.11:g.33270705A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile136Met	rs1416723101	missense variant	-	NC_000010.11:g.33270697T>C	gnomAD
NRP1	O14786	p.Arg137Cys	rs766101815	missense variant	-	NC_000010.11:g.33270696G>A	ExAC,gnomAD
NRP1	O14786	p.Arg137His	rs150347665	missense variant	-	NC_000010.11:g.33270695C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Arg137Ser	rs766101815	missense variant	-	NC_000010.11:g.33270696G>T	ExAC,gnomAD
NRP1	O14786	p.Ile140Leu	rs180868035	missense variant	-	NC_000010.11:g.33270687T>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys142Arg	rs1459792917	missense variant	-	NC_000010.11:g.33270680T>C	TOPMed
NRP1	O14786	p.Arg143Gly	rs1250979931	missense variant	-	NC_000010.11:g.33270678T>C	gnomAD
NRP1	O14786	p.Arg143Ser	rs1212825426	missense variant	-	NC_000010.11:g.33270676T>A	gnomAD
NRP1	O14786	p.Gly144Asp	rs1230188430	missense variant	-	NC_000010.11:g.33263873C>T	TOPMed
NRP1	O14786	p.Glu146Ala	rs1337857872	missense variant	-	NC_000010.11:g.33263867T>G	TOPMed
NRP1	O14786	p.Cys147Arg	rs764575518	missense variant	-	NC_000010.11:g.33263865A>G	ExAC,gnomAD
NRP1	O14786	p.Tyr151His	rs1401227091	missense variant	-	NC_000010.11:g.33263853A>G	TOPMed,gnomAD
NRP1	O14786	p.Pro154Arg	rs527361837	missense variant	-	NC_000010.11:g.33263843G>C	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro154Ser	rs776015472	missense variant	-	NC_000010.11:g.33263844G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro154Leu	rs527361837	missense variant	-	NC_000010.11:g.33263843G>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser155Asn	rs774445478	missense variant	-	NC_000010.11:g.33263840C>T	ExAC,gnomAD
NRP1	O14786	p.Ser155Arg	rs559961807	missense variant	-	NC_000010.11:g.33263839A>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser155Thr	rs774445478	missense variant	-	NC_000010.11:g.33263840C>G	ExAC,gnomAD
NRP1	O14786	p.Ser155Arg	rs559961807	missense variant	-	NC_000010.11:g.33263839A>C	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val157Ala	rs1450276055	missense variant	-	NC_000010.11:g.33263834A>G	TOPMed
NRP1	O14786	p.Val157Met	rs749539019	missense variant	-	NC_000010.11:g.33263835C>T	ExAC,gnomAD
NRP1	O14786	p.Ile158Thr	rs1190789897	missense variant	-	NC_000010.11:g.33263831A>G	TOPMed
NRP1	O14786	p.Lys159Gln	rs777846803	missense variant	-	NC_000010.11:g.33263829T>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys159Arg	rs138480424	missense variant	-	NC_000010.11:g.33263828T>C	ESP,ExAC
NRP1	O14786	p.Lys159Glu	rs777846803	missense variant	-	NC_000010.11:g.33263829T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro161Ser	rs912015040	missense variant	-	NC_000010.11:g.33263823G>A	TOPMed
NRP1	O14786	p.Gly162Glu	rs1210497251	missense variant	-	NC_000010.11:g.33263819C>T	gnomAD
NRP1	O14786	p.Gly162Arg	rs760204296	missense variant	-	NC_000010.11:g.33263820C>T	ExAC,gnomAD
NRP1	O14786	p.Leu171Phe	rs199984109	missense variant	-	NC_000010.11:g.33263793G>A	TOPMed,gnomAD
NRP1	O14786	p.Glu172Gln	rs754991998	missense variant	-	NC_000010.11:g.33263790C>G	ExAC,gnomAD
NRP1	O14786	p.Ile176Val	rs779720457	missense variant	-	NC_000010.11:g.33263778T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val179Glu	rs7079053	missense variant	-	NC_000010.11:g.33263768A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val179Ala	rs7079053	missense variant	-	NC_000010.11:g.33263768A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro180Leu	rs201526603	missense variant	-	NC_000010.11:g.33263765G>A	1000Genomes,TOPMed
NRP1	O14786	p.Pro180Ser	rs761148975	missense variant	-	NC_000010.11:g.33263766G>A	ExAC,gnomAD
NRP1	O14786	p.Lys181Glu	rs753081430	missense variant	-	NC_000010.11:g.33263763T>C	ExAC,TOPMed
NRP1	O14786	p.Lys181Asn	rs767829083	missense variant	-	NC_000010.11:g.33263761C>G	ExAC,gnomAD
NRP1	O14786	p.Met182Thr	rs760040713	missense variant	-	NC_000010.11:g.33263759A>G	ExAC,gnomAD
NRP1	O14786	p.Glu184Asp	rs1347724696	missense variant	-	NC_000010.11:g.33263752C>A	TOPMed
NRP1	O14786	p.Ile186Phe	rs774782566	missense variant	-	NC_000010.11:g.33263748T>A	ExAC,gnomAD
NRP1	O14786	p.Ile186Asn	rs766540692	missense variant	-	NC_000010.11:g.33263747A>T	ExAC,gnomAD
NRP1	O14786	p.Glu188Gln	rs1173936257	missense variant	-	NC_000010.11:g.33263742C>G	gnomAD
NRP1	O14786	p.Asp193Glu	rs1415820731	missense variant	-	NC_000010.11:g.33263725G>T	TOPMed,gnomAD
NRP1	O14786	p.Pro196Ala	rs762939897	missense variant	-	NC_000010.11:g.33263718G>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asn199Thr	rs1486129684	missense variant	-	NC_000010.11:g.33263708T>G	gnomAD
NRP1	O14786	p.Pro200Thr	rs1258450460	missense variant	-	NC_000010.11:g.33263706G>T	gnomAD
NRP1	O14786	p.Pro201Leu	rs200265591	missense variant	-	NC_000010.11:g.33263702G>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly202Val	rs941004239	missense variant	-	NC_000010.11:g.33263699C>A	TOPMed,gnomAD
NRP1	O14786	p.Gly202Arg	rs1480484289	missense variant	-	NC_000010.11:g.33263700C>G	gnomAD
NRP1	O14786	p.Gly202Ala	rs941004239	missense variant	-	NC_000010.11:g.33263699C>G	TOPMed,gnomAD
NRP1	O14786	p.Gly203Ala	rs769888879	missense variant	-	NC_000010.11:g.33263696C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly203Arg	rs909532212	missense variant	-	NC_000010.11:g.33263697C>T	TOPMed,gnomAD
NRP1	O14786	p.Met204Ile	rs1456188657	missense variant	-	NC_000010.11:g.33263692C>T	gnomAD
NRP1	O14786	p.Arg207His	rs148308681	missense variant	-	NC_000010.11:g.33263684C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr208His	rs746998077	missense variant	-	NC_000010.11:g.33263682A>G	ExAC,gnomAD
NRP1	O14786	p.Arg210Leu	rs757963789	missense variant	-	NC_000010.11:g.33263675C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg210Gln	rs757963789	missense variant	-	NC_000010.11:g.33263675C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg210Pro	rs757963789	missense variant	-	NC_000010.11:g.33263675C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg210Trp	rs779848424	missense variant	-	NC_000010.11:g.33263676G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp215Asn	rs1459872074	missense variant	-	NC_000010.11:g.33263661C>T	gnomAD
NRP1	O14786	p.Phe217Leu	rs1393567589	missense variant	-	NC_000010.11:g.33263653G>T	gnomAD
NRP1	O14786	p.Asp219His	rs1164308760	missense variant	-	NC_000010.11:g.33263649C>G	gnomAD
NRP1	O14786	p.Val220Ala	rs778291277	missense variant	-	NC_000010.11:g.33256471A>G	ExAC,gnomAD
NRP1	O14786	p.Pro222Thr	rs143227333	missense variant	-	NC_000010.11:g.33256466G>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro222Ser	rs143227333	missense variant	-	NC_000010.11:g.33256466G>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile224Met	rs752844799	missense variant	-	NC_000010.11:g.33256458A>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile224Val	rs777399733	missense variant	-	NC_000010.11:g.33256460T>C	ExAC,gnomAD
NRP1	O14786	p.Ile224Thr	rs755377330	missense variant	-	NC_000010.11:g.33256459A>G	ExAC,gnomAD
NRP1	O14786	p.Arg226His	rs201034499	missense variant	-	NC_000010.11:g.33256453C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg226Cys	rs750880625	missense variant	-	NC_000010.11:g.33256454G>A	ExAC,gnomAD
NRP1	O14786	p.Gln230Pro	rs754150577	missense variant	-	NC_000010.11:g.33256441T>G	ExAC,gnomAD
NRP1	O14786	p.Lys231Glu	rs764387080	missense variant	-	NC_000010.11:g.33256439T>C	ExAC,gnomAD
NRP1	O14786	p.Thr232Ser	rs1173524331	missense variant	-	NC_000010.11:g.33256436T>A	gnomAD
NRP1	O14786	p.Gly234Asp	rs1032055908	missense variant	-	NC_000010.11:g.33256429C>T	TOPMed
NRP1	O14786	p.Arg235Gly	rs1371787655	missense variant	-	NC_000010.11:g.33256427G>C	gnomAD
NRP1	O14786	p.Arg237Gln	rs866118992	missense variant	-	NC_000010.11:g.33256420C>T	TOPMed,gnomAD
NRP1	O14786	p.Ser240Leu	rs775178016	missense variant	-	NC_000010.11:g.33256411G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile242Ser	rs146442068	missense variant	-	NC_000010.11:g.33256405A>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Met245Val	rs375021532	missense variant	-	NC_000010.11:g.33256397T>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr248His	rs1434061744	missense variant	-	NC_000010.11:g.33256388A>G	gnomAD
NRP1	O14786	p.Thr249Ser	rs748767291	missense variant	-	NC_000010.11:g.33256384G>C	ExAC,gnomAD
NRP1	O14786	p.Ser251Arg	rs747799575	missense variant	-	NC_000010.11:g.33256377G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala252Thr	rs1300083541	missense variant	-	NC_000010.11:g.33256376C>T	TOPMed,gnomAD
NRP1	O14786	p.Ala252Val	rs780290010	missense variant	-	NC_000010.11:g.33256375G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala254Thr	rs1335290470	missense variant	-	NC_000010.11:g.33256370C>T	gnomAD
NRP1	O14786	p.Ala260Thr	rs1473029523	missense variant	-	NC_000010.11:g.33256352C>T	TOPMed
NRP1	O14786	p.Ser263Cys	rs1478416024	missense variant	-	NC_000010.11:g.33256343T>A	TOPMed,gnomAD
NRP1	O14786	p.Ser263Gly	rs1478416024	missense variant	-	NC_000010.11:g.33256343T>C	TOPMed,gnomAD
NRP1	O14786	p.Leu265Ser	rs750955267	missense variant	-	NC_000010.11:g.33256336A>G	ExAC,gnomAD
NRP1	O14786	p.Gln266His	rs779527944	missense variant	-	NC_000010.11:g.33256332C>G	ExAC,gnomAD
NRP1	O14786	p.Ser267Asn	rs113722704	missense variant	-	NC_000010.11:g.33256330C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu271Gly	rs1212018208	missense variant	-	NC_000010.11:g.33256318T>C	gnomAD
NRP1	O14786	p.Asp272Asn	rs1435819505	missense variant	-	NC_000010.11:g.33256316C>T	gnomAD
NRP1	O14786	p.Met276Val	rs1019886408	missense variant	-	NC_000010.11:g.33254183T>C	-
NRP1	O14786	p.Met281Val	rs1230311035	missense variant	-	NC_000010.11:g.33254168T>C	gnomAD
NRP1	O14786	p.Met281Thr	rs1371435295	missense variant	-	NC_000010.11:g.33254167A>G	gnomAD
NRP1	O14786	p.Glu282Asp	rs1309002041	missense variant	-	NC_000010.11:g.33254163T>G	gnomAD
NRP1	O14786	p.Glu285Lys	rs767749031	missense variant	-	NC_000010.11:g.33254156C>T	ExAC,gnomAD
NRP1	O14786	p.Ile286Ser	rs577020617	missense variant	-	NC_000010.11:g.33254152A>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.His287Asn	rs751394461	missense variant	-	NC_000010.11:g.33254150G>T	ExAC,gnomAD
NRP1	O14786	p.His287Arg	rs1350006225	missense variant	-	NC_000010.11:g.33254149T>C	gnomAD
NRP1	O14786	p.Ser288Phe	rs766125758	missense variant	-	NC_000010.11:g.33254146G>A	ExAC,gnomAD
NRP1	O14786	p.Asp289His	rs773080378	missense variant	-	NC_000010.11:g.33254144C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp289Glu	rs764772224	missense variant	-	NC_000010.11:g.33254142G>T	ExAC,gnomAD
NRP1	O14786	p.Asp289Asn	rs773080378	missense variant	-	NC_000010.11:g.33254144C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gln290His	rs1243963204	missense variant	-	NC_000010.11:g.33254139C>G	TOPMed
NRP1	O14786	p.Ile291Phe	rs761386013	missense variant	-	NC_000010.11:g.33254138T>A	ExAC,gnomAD
NRP1	O14786	p.Thr292Ala	rs1250882679	missense variant	-	NC_000010.11:g.33254135T>C	gnomAD
NRP1	O14786	p.Ala293Val	rs1047454308	missense variant	-	NC_000010.11:g.33254131G>A	-
NRP1	O14786	p.Ser295Cys	rs776208797	missense variant	-	NC_000010.11:g.33254125G>C	ExAC,gnomAD
NRP1	O14786	p.Thr299Ile	rs746578622	missense variant	-	NC_000010.11:g.33254113G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr299Asn	rs746578622	missense variant	-	NC_000010.11:g.33254113G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Trp301Leu	rs985863213	missense variant	-	NC_000010.11:g.33254107C>A	TOPMed
NRP1	O14786	p.Arg305His	rs1174102640	missense variant	-	NC_000010.11:g.33254095C>T	TOPMed
NRP1	O14786	p.Arg305Cys	rs774889924	missense variant	-	NC_000010.11:g.33254096G>A	ExAC,gnomAD
NRP1	O14786	p.Arg307Cys	rs771374851	missense variant	-	NC_000010.11:g.33254090G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg307Leu	rs749859903	missense variant	-	NC_000010.11:g.33254089C>A	ExAC,gnomAD
NRP1	O14786	p.Arg307Ser	rs771374851	missense variant	-	NC_000010.11:g.33254090G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr310His	rs930398633	missense variant	-	NC_000010.11:g.33254081A>G	TOPMed,gnomAD
NRP1	O14786	p.Pro311Ser	rs778394341	missense variant	-	NC_000010.11:g.33254078G>A	ExAC,gnomAD
NRP1	O14786	p.Glu312Gly	rs748245414	missense variant	-	NC_000010.11:g.33254074T>C	ExAC,gnomAD
NRP1	O14786	p.Pro317His	rs1359535322	missense variant	-	NC_000010.11:g.33254059G>T	gnomAD
NRP1	O14786	p.Gly318Arg	rs779844067	missense variant	-	NC_000010.11:g.33254057C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly318Arg	rs779844067	missense variant	-	NC_000010.11:g.33254057C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu319Gln	rs1393110479	missense variant	-	NC_000010.11:g.33254054C>G	TOPMed,gnomAD
NRP1	O14786	p.Arg323Gln	rs1427093763	missense variant	-	NC_000010.11:g.33254041C>T	TOPMed,gnomAD
NRP1	O14786	p.Glu324Asp	rs751737800	missense variant	-	NC_000010.11:g.33254037C>G	ExAC,gnomAD
NRP1	O14786	p.Leu332Val	rs1254302895	missense variant	-	NC_000010.11:g.33226277G>C	TOPMed
NRP1	O14786	p.Arg334Ser	rs747418517	missense variant	-	NC_000010.11:g.33226271G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg334His	rs754511946	missense variant	-	NC_000010.11:g.33226270C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg334Cys	rs747418517	missense variant	-	NC_000010.11:g.33226271G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val336Leu	rs765938650	missense variant	-	NC_000010.11:g.33226265C>G	ExAC,gnomAD
NRP1	O14786	p.Thr337Ala	rs367928513	missense variant	-	NC_000010.11:g.33226262T>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr337Met	rs142121081	missense variant	-	NC_000010.11:g.33226261G>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr337Arg	rs142121081	missense variant	-	NC_000010.11:g.33226261G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly340Arg	rs553769055	missense variant	-	NC_000010.11:g.33226253C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Gln342His	rs200760101	missense variant	-	NC_000010.11:g.33226245C>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala344Thr	rs771071490	missense variant	-	NC_000010.11:g.33226241C>T	ExAC,gnomAD
NRP1	O14786	p.Ile345Thr	rs773170786	missense variant	-	NC_000010.11:g.33226237A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys347Glu	rs1385898695	missense variant	-	NC_000010.11:g.33226232T>C	TOPMed
NRP1	O14786	p.Lys347Asn	rs748142955	missense variant	-	NC_000010.11:g.33226230T>G	ExAC,gnomAD
NRP1	O14786	p.Thr349Ser	rs1475387169	missense variant	-	NC_000010.11:g.33226225G>C	TOPMed,gnomAD
NRP1	O14786	p.Lys351Arg	rs754598313	missense variant	-	NC_000010.11:g.33226219T>C	ExAC,gnomAD
NRP1	O14786	p.Tyr354Cys	rs1237897247	missense variant	-	NC_000010.11:g.33226210T>C	gnomAD
NRP1	O14786	p.Val355Ile	rs571665973	missense variant	-	NC_000010.11:g.33226208C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Thr357Asn	rs374630762	missense variant	-	NC_000010.11:g.33226201G>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys359Met	rs149966206	missense variant	-	NC_000010.11:g.33226195T>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile360Met	rs139187411	missense variant	-	NC_000010.11:g.33226191G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp361His	rs756440174	missense variant	-	NC_000010.11:g.33226190C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp361Asn	rs756440174	missense variant	-	NC_000010.11:g.33226190C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser364Pro	rs1355895172	missense variant	-	NC_000010.11:g.33226181A>G	gnomAD
NRP1	O14786	p.Asn365Ser	rs776033868	missense variant	-	NC_000010.11:g.33226177T>C	TOPMed
NRP1	O14786	p.Gly366Arg	rs370551432	missense variant	-	NC_000010.11:g.33226175C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp368Glu	rs911784141	missense variant	-	NC_000010.11:g.33226167G>C	TOPMed
NRP1	O14786	p.Trp369Gly	rs1478923374	missense variant	-	NC_000010.11:g.33226166A>C	TOPMed
NRP1	O14786	p.Ile370Thr	rs199673539	missense variant	-	NC_000010.11:g.33226162A>G	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr371Ile	rs530168426	missense variant	-	NC_000010.11:g.33226159G>A	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Thr371Ala	rs766440717	missense variant	-	NC_000010.11:g.33226160T>C	ExAC,gnomAD
NRP1	O14786	p.Ile372Val	rs773543182	missense variant	-	NC_000010.11:g.33226157T>C	ExAC,gnomAD
NRP1	O14786	p.Gly375Glu	rs945004288	missense variant	-	NC_000010.11:g.33226147C>T	TOPMed
NRP1	O14786	p.Asn376Ser	rs769749073	missense variant	-	NC_000010.11:g.33226144T>C	ExAC,gnomAD
NRP1	O14786	p.Lys377Asn	rs1413987416	missense variant	-	NC_000010.11:g.33226140T>G	gnomAD
NRP1	O14786	p.Pro378Arg	rs1164817714	missense variant	-	NC_000010.11:g.33226138G>C	TOPMed,gnomAD
NRP1	O14786	p.Val379Ile	rs747948664	missense variant	-	NC_000010.11:g.33226136C>T	ExAC,gnomAD
NRP1	O14786	p.Val379Ala	rs1379433473	missense variant	-	NC_000010.11:g.33226135A>G	gnomAD
NRP1	O14786	p.Gln382Pro	rs1196047532	missense variant	-	NC_000010.11:g.33221856T>G	TOPMed
NRP1	O14786	p.Asn384Lys	rs762065562	missense variant	-	NC_000010.11:g.33221849G>C	ExAC,gnomAD
NRP1	O14786	p.Thr385Pro	rs776602965	missense variant	-	NC_000010.11:g.33221848T>G	ExAC,gnomAD
NRP1	O14786	p.Thr388Ser	rs775470113	missense variant	-	NC_000010.11:g.33221839T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp389Glu	rs771549854	missense variant	-	NC_000010.11:g.33221834A>T	ExAC,gnomAD
NRP1	O14786	p.Val390Ile	rs745371202	missense variant	-	NC_000010.11:g.33221833C>T	ExAC,gnomAD
NRP1	O14786	p.Val392Phe	rs1414962803	missense variant	-	NC_000010.11:g.33221827C>A	gnomAD
NRP1	O14786	p.Pro398Leu	rs1427139883	missense variant	-	NC_000010.11:g.33221808G>A	TOPMed
NRP1	O14786	p.Ile400Thr	rs748899944	missense variant	-	NC_000010.11:g.33221802A>G	ExAC,gnomAD
NRP1	O14786	p.Ile400Val	rs1476965621	missense variant	-	NC_000010.11:g.33221803T>C	gnomAD
NRP1	O14786	p.Thr401Ile	rs781431241	missense variant	-	NC_000010.11:g.33221799G>A	ExAC,gnomAD
NRP1	O14786	p.Arg402Gln	rs755346095	missense variant	-	NC_000010.11:g.33221796C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg405Gln	rs752043800	missense variant	-	NC_000010.11:g.33221787C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala409Glu	rs750540463	missense variant	-	NC_000010.11:g.33221775G>T	ExAC,gnomAD
NRP1	O14786	p.Ala409Thr	rs758460720	missense variant	-	NC_000010.11:g.33221776C>T	ExAC,gnomAD
NRP1	O14786	p.Thr413Ser	rs1004627552	missense variant	-	NC_000010.11:g.33221764T>A	TOPMed
NRP1	O14786	p.Ile415Val	rs762153303	missense variant	-	NC_000010.11:g.33221758T>C	ExAC,gnomAD
NRP1	O14786	p.Ile415Thr	rs754093395	missense variant	-	NC_000010.11:g.33221757A>G	ExAC,gnomAD
NRP1	O14786	p.Ser416Tyr	rs369312020	missense variant	-	NC_000010.11:g.33221754G>T	ESP,ExAC,gnomAD
NRP1	O14786	p.Ser416Phe	rs369312020	missense variant	-	NC_000010.11:g.33221754G>A	ESP,ExAC,gnomAD
NRP1	O14786	p.Ser416Pro	rs1295915647	missense variant	-	NC_000010.11:g.33221755A>G	TOPMed
NRP1	O14786	p.Met417Val	rs576366181	missense variant	-	NC_000010.11:g.33221752T>C	gnomAD
NRP1	O14786	p.Phe419Val	rs1430431200	missense variant	-	NC_000010.11:g.33221746A>C	TOPMed
NRP1	O14786	p.Phe419Leu	rs1430431200	missense variant	-	NC_000010.11:g.33221746A>G	TOPMed
NRP1	O14786	p.Val421Ala	rs775349899	missense variant	-	NC_000010.11:g.33221739A>G	ExAC,gnomAD
NRP1	O14786	p.Gly423Ser	rs1408118336	missense variant	-	NC_000010.11:g.33221734C>T	gnomAD
NRP1	O14786	p.Cys424Ter	rs1280262067	stop gained	-	NC_000010.11:g.33221729G>T	TOPMed
NRP1	O14786	p.Lys425Met	rs1178713109	missense variant	-	NC_000010.11:g.33221727T>A	TOPMed,gnomAD
NRP1	O14786	p.Ile426Thr	rs770379832	missense variant	-	NC_000010.11:g.33221724A>G	ExAC,gnomAD
NRP1	O14786	p.Thr427Arg	rs748987885	missense variant	-	NC_000010.11:g.33221721G>C	ExAC
NRP1	O14786	p.Tyr429Asn	rs767177302	missense variant	-	NC_000010.11:g.33213715A>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro430Ser	rs1164557074	missense variant	-	NC_000010.11:g.33213712G>A	gnomAD
NRP1	O14786	p.Ser432Phe	rs145954532	missense variant	-	NC_000010.11:g.33213705G>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly433Val	rs1441999445	missense variant	-	NC_000010.11:g.33213702C>A	TOPMed
NRP1	O14786	p.Met434Thr	rs774247461	missense variant	-	NC_000010.11:g.33213699A>G	ExAC,gnomAD
NRP1	O14786	p.Leu435Met	rs765913209	missense variant	-	NC_000010.11:g.33213697A>T	ExAC
NRP1	O14786	p.Gly436Val	rs1157381199	missense variant	-	NC_000010.11:g.33213693C>A	TOPMed
NRP1	O14786	p.Met437Val	rs772795504	missense variant	-	NC_000010.11:g.33213691T>C	ExAC,gnomAD
NRP1	O14786	p.Met437Ile	rs1238266451	missense variant	-	NC_000010.11:g.33213689C>T	gnomAD
NRP1	O14786	p.Ser439Ala	rs1196962374	missense variant	-	NC_000010.11:g.33213685A>C	TOPMed,gnomAD
NRP1	O14786	p.Ile442Phe	rs1487318606	missense variant	-	NC_000010.11:g.33213676T>A	TOPMed,gnomAD
NRP1	O14786	p.Ser443Phe	rs1245041209	missense variant	-	NC_000010.11:g.33213672G>A	TOPMed,gnomAD
NRP1	O14786	p.Ser443Pro	rs769495258	missense variant	-	NC_000010.11:g.33213673A>G	ExAC,gnomAD
NRP1	O14786	p.Ile447Leu	rs775948593	missense variant	-	NC_000010.11:g.33213661T>G	ExAC
NRP1	O14786	p.Thr448Ala	rs199883581	missense variant	-	NC_000010.11:g.33213658T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly453Glu	rs375128788	missense variant	-	NC_000010.11:g.33213642C>T	ESP,ExAC,gnomAD
NRP1	O14786	p.Asp454Tyr	rs779560935	missense variant	-	NC_000010.11:g.33213640C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp454Asn	rs779560935	missense variant	-	NC_000010.11:g.33213640C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Met458Thr	rs1425527048	missense variant	-	NC_000010.11:g.33213627A>G	gnomAD
NRP1	O14786	p.Met458Val	rs529636463	missense variant	-	NC_000010.11:g.33213628T>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Met458Ile	rs1302091427	missense variant	-	NC_000010.11:g.33213626C>T	gnomAD
NRP1	O14786	p.Pro459Thr	rs777648377	missense variant	-	NC_000010.11:g.33213625G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg463Cys	rs1240303141	missense variant	-	NC_000010.11:g.33213613G>A	TOPMed,gnomAD
NRP1	O14786	p.Arg463His	rs1246937435	missense variant	-	NC_000010.11:g.33213612C>T	TOPMed
NRP1	O14786	p.Leu464Arg	rs200660300	missense variant	-	NC_000010.11:g.33213609A>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Val465Ile	rs540725422	missense variant	-	NC_000010.11:g.33213607C>T	1000Genomes,ExAC
NRP1	O14786	p.Thr466Ser	rs767349233	missense variant	-	NC_000010.11:g.33213604T>A	ExAC,gnomAD
NRP1	O14786	p.Ser467Arg	rs1364837534	missense variant	-	NC_000010.11:g.33213599A>C	gnomAD
NRP1	O14786	p.Arg468His	rs751563527	missense variant	-	NC_000010.11:g.33213597C>T	ExAC,gnomAD
NRP1	O14786	p.Arg468Cys	rs532348709	missense variant	-	NC_000010.11:g.33213598G>A	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Leu473Pro	rs766287742	missense variant	-	NC_000010.11:g.33213582A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala476Ser	rs564902260	missense variant	-	NC_000010.11:g.33213574C>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala476Thr	rs564902260	missense variant	-	NC_000010.11:g.33213574C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala476Pro	rs564902260	missense variant	-	NC_000010.11:g.33213574C>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala476Val	rs1215544814	missense variant	-	NC_000010.11:g.33213573G>A	TOPMed,gnomAD
NRP1	O14786	p.Pro477His	rs1230932764	missense variant	-	NC_000010.11:g.33213570G>T	TOPMed,gnomAD
NRP1	O14786	p.Pro477Ser	rs776118668	missense variant	-	NC_000010.11:g.33213571G>A	ExAC,gnomAD
NRP1	O14786	p.Asn482Ser	rs1042934113	missense variant	-	NC_000010.11:g.33213555T>C	gnomAD
NRP1	O14786	p.Trp484Ter	rs759969860	stop gained	-	NC_000010.11:g.33213549C>T	ExAC,gnomAD
NRP1	O14786	p.Trp484Cys	rs774800046	missense variant	-	NC_000010.11:g.33213548C>A	ExAC
NRP1	O14786	p.Leu485Pro	rs890641054	missense variant	-	NC_000010.11:g.33213546A>G	TOPMed
NRP1	O14786	p.Ile487Val	rs182437025	missense variant	-	NC_000010.11:g.33213541T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile487Met	rs376390429	missense variant	-	NC_000010.11:g.33213539T>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp488His	rs769737936	missense variant	-	NC_000010.11:g.33213538C>G	ExAC,gnomAD
NRP1	O14786	p.Leu489Val	rs1190279010	missense variant	-	NC_000010.11:g.33213535G>C	TOPMed
NRP1	O14786	p.Gly490Glu	rs781387948	missense variant	-	NC_000010.11:g.33213531C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly490Arg	rs1160845721	missense variant	-	NC_000010.11:g.33213532C>G	gnomAD
NRP1	O14786	p.Glu491Lys	rs1376633400	missense variant	-	NC_000010.11:g.33213529C>T	TOPMed,gnomAD
NRP1	O14786	p.Lys493Arg	rs754822166	missense variant	-	NC_000010.11:g.33213522T>C	ExAC,gnomAD
NRP1	O14786	p.Ile494Leu	rs892763734	missense variant	-	NC_000010.11:g.33213520T>G	TOPMed
NRP1	O14786	p.Val495Met	rs749575467	missense variant	-	NC_000010.11:g.33213517C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly497Ser	rs1192699113	missense variant	-	NC_000010.11:g.33213511C>T	gnomAD
NRP1	O14786	p.Gly497Ala	rs1447416741	missense variant	-	NC_000010.11:g.33213510C>G	TOPMed,gnomAD
NRP1	O14786	p.Gly497Asp	rs1447416741	missense variant	-	NC_000010.11:g.33213510C>T	TOPMed,gnomAD
NRP1	O14786	p.Ile498Leu	rs1198715278	missense variant	-	NC_000010.11:g.33213508T>G	gnomAD
NRP1	O14786	p.Ile499Val	rs758389396	missense variant	-	NC_000010.11:g.33213505T>C	ExAC,TOPMed
NRP1	O14786	p.His505Tyr	rs764845863	missense variant	-	NC_000010.11:g.33213487G>A	ExAC,gnomAD
NRP1	O14786	p.Arg506Gln	rs554892989	missense variant	-	NC_000010.11:g.33213483C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu507Lys	rs1276594573	missense variant	-	NC_000010.11:g.33213481C>T	gnomAD
NRP1	O14786	p.Asn508Tyr	rs763853549	missense variant	-	NC_000010.11:g.33213478T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys509Thr	rs1327457530	missense variant	-	NC_000010.11:g.33213474T>G	gnomAD
NRP1	O14786	p.Phe511Leu	rs1402043333	missense variant	-	NC_000010.11:g.33213467G>C	gnomAD
NRP1	O14786	p.Phe511Val	rs774890067	missense variant	-	NC_000010.11:g.33213469A>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Phe511Leu	rs774890067	missense variant	-	NC_000010.11:g.33213469A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Met512Val	rs771375002	missense variant	-	NC_000010.11:g.33213466T>C	ExAC,gnomAD
NRP1	O14786	p.Lys514Asn	rs1470644534	missense variant	-	NC_000010.11:g.33213458C>A	TOPMed,gnomAD
NRP1	O14786	p.Ile517Val	rs763563755	missense variant	-	NC_000010.11:g.33213451T>C	ExAC,gnomAD
NRP1	O14786	p.Ile517Thr	rs1169600404	missense variant	-	NC_000010.11:g.33213450A>G	gnomAD
NRP1	O14786	p.Gly518Arg	rs769982693	missense variant	-	NC_000010.11:g.33213448C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr519Phe	rs1475173245	missense variant	-	NC_000010.11:g.33213444T>A	TOPMed
NRP1	O14786	p.Ser520Gly	rs543390398	missense variant	-	NC_000010.11:g.33213442T>C	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly523Ser	rs1205457813	missense variant	-	NC_000010.11:g.33213433C>T	TOPMed,gnomAD
NRP1	O14786	p.Ser524Leu	rs117525057	missense variant	-	NC_000010.11:g.33213429G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Met528Arg	rs1304164758	missense variant	-	NC_000010.11:g.33213417A>C	gnomAD
NRP1	O14786	p.Met528Val	rs1340253141	missense variant	-	NC_000010.11:g.33213418T>C	gnomAD
NRP1	O14786	p.Met530Thr	rs1272293907	missense variant	-	NC_000010.11:g.33213411A>G	gnomAD
NRP1	O14786	p.Asp531Asn	rs1222857683	missense variant	-	NC_000010.11:g.33213409C>T	gnomAD
NRP1	O14786	p.Asp532Glu	rs778706384	missense variant	-	NC_000010.11:g.33213404G>T	ExAC,gnomAD
NRP1	O14786	p.Asp532Tyr	rs371533986	missense variant	-	NC_000010.11:g.33213406C>A	ESP,ExAC,gnomAD
NRP1	O14786	p.Arg535Pro	rs763657085	missense variant	-	NC_000010.11:g.33213396C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg535Cys	rs757164139	missense variant	-	NC_000010.11:g.33213397G>A	ExAC,gnomAD
NRP1	O14786	p.Arg535His	rs763657085	missense variant	-	NC_000010.11:g.33213396C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala537Val	rs760427841	missense variant	-	NC_000010.11:g.33213390G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala537Thr	rs1330019086	missense variant	-	NC_000010.11:g.33213391C>T	gnomAD
NRP1	O14786	p.Glu541Lys	rs1282161805	missense variant	-	NC_000010.11:g.33207710C>T	TOPMed
NRP1	O14786	p.Glu541Asp	rs1288766705	missense variant	-	NC_000010.11:g.33207708C>G	gnomAD
NRP1	O14786	p.Gly542Ala	rs1203567172	missense variant	-	NC_000010.11:g.33207706C>G	gnomAD
NRP1	O14786	p.Asn543Ser	rs1264457405	missense variant	-	NC_000010.11:g.33207703T>C	gnomAD
NRP1	O14786	p.Asn544Ser	rs773082833	missense variant	-	NC_000010.11:g.33207700T>C	ExAC,gnomAD
NRP1	O14786	p.Tyr546Asp	rs1306488561	missense variant	-	NC_000010.11:g.33207695A>C	TOPMed,gnomAD
NRP1	O14786	p.Tyr546Phe	rs769859201	missense variant	-	NC_000010.11:g.33207694T>A	ExAC,gnomAD
NRP1	O14786	p.Tyr546His	rs1306488561	missense variant	-	NC_000010.11:g.33207695A>G	TOPMed,gnomAD
NRP1	O14786	p.Thr548Ile	rs201841993	missense variant	-	NC_000010.11:g.33207688G>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu551Val	rs768187031	missense variant	-	NC_000010.11:g.33207680G>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg552Gln	rs757990959	missense variant	-	NC_000010.11:g.33207676C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg552Trp	rs779745790	missense variant	-	NC_000010.11:g.33207677G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr553Ile	rs778076075	missense variant	-	NC_000010.11:g.33207673G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr553Ser	rs754210318	missense variant	-	NC_000010.11:g.33207674T>A	ExAC,gnomAD
NRP1	O14786	p.Phe554Leu	rs756636306	missense variant	-	NC_000010.11:g.33207671A>G	ExAC,gnomAD
NRP1	O14786	p.Pro555Leu	rs775164675	missense variant	-	NC_000010.11:g.33207667G>A	gnomAD
NRP1	O14786	p.Leu557Phe	rs190763052	missense variant	-	NC_000010.11:g.33207662G>A	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Leu557Val	rs190763052	missense variant	-	NC_000010.11:g.33207662G>C	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Thr559Met	rs143124682	missense variant	-	NC_000010.11:g.33207655G>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg560ArgTerUnk	rs764907882	stop gained	-	NC_000010.11:g.33207652_33207653insTACC	ExAC,gnomAD
NRP1	O14786	p.Arg560Ter	rs374062923	stop gained	-	NC_000010.11:g.33207653G>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg560Gly	rs374062923	missense variant	-	NC_000010.11:g.33207653G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg560Gln	rs773172539	missense variant	-	NC_000010.11:g.33207652C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Phe561Ile	rs376983601	missense variant	-	NC_000010.11:g.33207650A>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Phe561Leu	rs2228637	missense variant	-	NC_000010.11:g.33207648G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile562Leu	rs1163132501	missense variant	-	NC_000010.11:g.33207647T>G	gnomAD
NRP1	O14786	p.Ile564Phe	rs1445076308	missense variant	-	NC_000010.11:g.33207641T>A	TOPMed
NRP1	O14786	p.Ile564Thr	rs1384816655	missense variant	-	NC_000010.11:g.33207640A>G	TOPMed,gnomAD
NRP1	O14786	p.Tyr565His	rs776598307	missense variant	-	NC_000010.11:g.33207638A>G	ExAC,gnomAD
NRP1	O14786	p.Pro566Thr	rs1389697580	missense variant	-	NC_000010.11:g.33207635G>T	TOPMed,gnomAD
NRP1	O14786	p.Glu567Gly	rs1463719475	missense variant	-	NC_000010.11:g.33207631T>C	gnomAD
NRP1	O14786	p.Glu567Lys	rs746545228	missense variant	-	NC_000010.11:g.33207632C>T	ExAC,gnomAD
NRP1	O14786	p.Thr570Ser	rs950528977	missense variant	-	NC_000010.11:g.33207622G>C	TOPMed
NRP1	O14786	p.His571Arg	rs771747547	missense variant	-	NC_000010.11:g.33207619T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.His571Leu	rs771747547	missense variant	-	NC_000010.11:g.33207619T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly573Arg	rs778160256	missense variant	-	NC_000010.11:g.33207614C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu574Val	rs569952285	missense variant	-	NC_000010.11:g.33207611G>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu580Met	rs61760419	missense variant	-	NC_000010.11:g.33207593G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu584Lys	rs1457045538	missense variant	-	NC_000010.11:g.33207581C>T	TOPMed
NRP1	O14786	p.Val585Ala	rs758712396	missense variant	-	NC_000010.11:g.33207577A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val585Gly	rs758712396	missense variant	-	NC_000010.11:g.33207577A>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala587Thr	rs750648742	missense variant	-	NC_000010.11:g.33207572C>T	ExAC,gnomAD
NRP1	O14786	p.Ala587Val	rs754732280	missense variant	-	NC_000010.11:g.33202995G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala590Thr	rs568996715	missense variant	-	NC_000010.11:g.33202987C>T	TOPMed,gnomAD
NRP1	O14786	p.Ala590Pro	rs568996715	missense variant	-	NC_000010.11:g.33202987C>G	TOPMed,gnomAD
NRP1	O14786	p.Gly591Glu	rs747034072	missense variant	-	NC_000010.11:g.33202983C>T	ExAC,gnomAD
NRP1	O14786	p.Pro592Gln	rs201038869	missense variant	-	NC_000010.11:g.33202980G>T	1000Genomes,TOPMed,gnomAD
NRP1	O14786	p.Pro592Leu	rs201038869	missense variant	-	NC_000010.11:g.33202980G>A	1000Genomes,TOPMed,gnomAD
NRP1	O14786	p.Thr594Ile	rs377066073	missense variant	-	NC_000010.11:g.33202974G>A	ESP,ExAC,gnomAD
NRP1	O14786	p.Asn596Lys	rs147055093	missense variant	-	NC_000010.11:g.33202967G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly597Arg	rs141633354	missense variant	-	NC_000010.11:g.33202966C>G	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly597Glu	rs1428559055	missense variant	-	NC_000010.11:g.33202965C>T	TOPMed,gnomAD
NRP1	O14786	p.Gly597Arg	rs141633354	missense variant	-	NC_000010.11:g.33202966C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu599Phe	rs148041491	missense variant	-	NC_000010.11:g.33202958C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val600Ala	rs554875974	missense variant	-	NC_000010.11:g.33202956A>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Cys603Trp	rs890907414	missense variant	-	NC_000010.11:g.33202946A>C	TOPMed,gnomAD
NRP1	O14786	p.Asp604Val	rs1164063912	missense variant	-	NC_000010.11:g.33202944T>A	TOPMed
NRP1	O14786	p.Asp605Glu	rs148913335	missense variant	-	NC_000010.11:g.33202940G>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp606Asn	rs766803868	missense variant	-	NC_000010.11:g.33202939C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gln607Arg	rs1430430503	missense variant	-	NC_000010.11:g.33202935T>C	gnomAD
NRP1	O14786	p.Asn609Ser	rs773185314	missense variant	-	NC_000010.11:g.33202929T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Cys610Tyr	rs1485190718	missense variant	-	NC_000010.11:g.33202926C>T	gnomAD
NRP1	O14786	p.Ser612Cys	rs776830169	missense variant	-	NC_000010.11:g.33202921T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser612Gly	rs776830169	missense variant	-	NC_000010.11:g.33202921T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly613Glu	rs768496698	missense variant	-	NC_000010.11:g.33202917C>T	ExAC,gnomAD
NRP1	O14786	p.Asp616Gly	rs374297417	missense variant	-	NC_000010.11:g.33202908T>C	ESP,TOPMed
NRP1	O14786	p.Phe618Leu	rs1183541610	missense variant	-	NC_000010.11:g.33202901G>C	TOPMed,gnomAD
NRP1	O14786	p.Phe618Val	rs1349348397	missense variant	-	NC_000010.11:g.33202903A>C	TOPMed
NRP1	O14786	p.Gln619His	rs746791525	missense variant	-	NC_000010.11:g.33202898C>A	ExAC,gnomAD
NRP1	O14786	p.Gly622Asp	rs747818891	missense variant	-	NC_000010.11:g.33197709C>T	ExAC,gnomAD
NRP1	O14786	p.Val626Met	rs750790418	missense variant	-	NC_000010.11:g.33197698C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val626Leu	rs750790418	missense variant	-	NC_000010.11:g.33197698C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val626Ala	rs1453286273	missense variant	-	NC_000010.11:g.33197697A>G	gnomAD
NRP1	O14786	p.Thr633Met	rs201288994	missense variant	-	NC_000010.11:g.33197676G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val634Ile	rs757782302	missense variant	-	NC_000010.11:g.33197674C>T	ExAC,gnomAD
NRP1	O14786	p.Ile635Thr	rs563594298	missense variant	-	NC_000010.11:g.33197670A>G	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Asp636Asn	rs145594886	missense variant	-	NC_000010.11:g.33197668C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ser637Arg	rs1488877452	missense variant	-	NC_000010.11:g.33197663G>T	TOPMed,gnomAD
NRP1	O14786	p.Ser641Pro	rs752665390	missense variant	-	NC_000010.11:g.33197653A>G	ExAC,gnomAD
NRP1	O14786	p.Phe643Val	rs1301385201	missense variant	-	NC_000010.11:g.33192416A>C	TOPMed,gnomAD
NRP1	O14786	p.Thr645Ala	rs1447492538	missense variant	-	NC_000010.11:g.33192410T>C	gnomAD
NRP1	O14786	p.Tyr646Cys	rs770248476	missense variant	-	NC_000010.11:g.33192406T>C	ExAC,gnomAD
NRP1	O14786	p.Glu651Ala	rs1379231419	missense variant	-	NC_000010.11:g.33192391T>G	TOPMed
NRP1	O14786	p.Thr659Ser	rs777065128	missense variant	-	NC_000010.11:g.33192368T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Phe660Ile	rs1450856854	missense variant	-	NC_000010.11:g.33192365A>T	gnomAD
NRP1	O14786	p.Cys661Arg	rs1367824389	missense variant	-	NC_000010.11:g.33192362A>G	TOPMed
NRP1	O14786	p.His668Gln	rs200822773	missense variant	-	NC_000010.11:g.33192339G>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Val669Leu	rs529913964	missense variant	-	NC_000010.11:g.33192338C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val669Gly	rs1239008699	missense variant	-	NC_000010.11:g.33192337A>C	gnomAD
NRP1	O14786	p.Gln670Leu	rs1202125848	missense variant	-	NC_000010.11:g.33192334T>A	gnomAD
NRP1	O14786	p.Gln670Lys	rs936954579	missense variant	-	NC_000010.11:g.33192335G>T	TOPMed
NRP1	O14786	p.Leu671His	rs1422090938	missense variant	-	NC_000010.11:g.33192331A>T	gnomAD
NRP1	O14786	p.Leu671Phe	rs1341153445	missense variant	-	NC_000010.11:g.33192332G>A	gnomAD
NRP1	O14786	p.Lys679Arg	rs1230520956	missense variant	-	NC_000010.11:g.33192307T>C	gnomAD
NRP1	O14786	p.Thr680Ala	rs1344416935	missense variant	-	NC_000010.11:g.33192305T>C	gnomAD
NRP1	O14786	p.Thr680Met	rs779018926	missense variant	-	NC_000010.11:g.33192304G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Pro682His	rs1246960150	missense variant	-	NC_000010.11:g.33192298G>T	TOPMed
NRP1	O14786	p.Asn691Ser	rs146457862	missense variant	-	NC_000010.11:g.33186479T>C	ESP,ExAC,gnomAD
NRP1	O14786	p.Tyr694Phe	rs1014613111	missense variant	-	NC_000010.11:g.33186470T>A	TOPMed,gnomAD
NRP1	O14786	p.Ser695Tyr	rs374499493	missense variant	-	NC_000010.11:g.33186467G>T	ESP,ExAC,gnomAD
NRP1	O14786	p.Asp698Glu	rs775930939	missense variant	-	NC_000010.11:g.33186457G>T	ExAC,gnomAD
NRP1	O14786	p.Glu699Lys	rs139081795	missense variant	-	NC_000010.11:g.33186456C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asn700Ser	rs1456408688	missense variant	-	NC_000010.11:g.33186452T>C	gnomAD
NRP1	O14786	p.Gln701Pro	rs1303790632	missense variant	-	NC_000010.11:g.33186449T>G	TOPMed
NRP1	O14786	p.Lys702Asn	rs530474285	missense variant	-	NC_000010.11:g.33186445C>A	TOPMed
NRP1	O14786	p.Lys704Glu	rs760041017	missense variant	-	NC_000010.11:g.33186441T>C	ExAC,gnomAD
NRP1	O14786	p.Val705Ala	rs1160900157	missense variant	-	NC_000010.11:g.33186437A>G	TOPMed,gnomAD
NRP1	O14786	p.Ala706Val	rs774346921	missense variant	-	NC_000010.11:g.33186434G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg707Pro	rs150891261	missense variant	-	NC_000010.11:g.33186431C>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg707His	rs150891261	missense variant	-	NC_000010.11:g.33186431C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Arg707Cys	rs1376849398	missense variant	-	NC_000010.11:g.33186432G>A	gnomAD
NRP1	O14786	p.Arg707Leu	rs150891261	missense variant	-	NC_000010.11:g.33186431C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Leu708Pro	rs773413750	missense variant	-	NC_000010.11:g.33186428A>G	ExAC,gnomAD
NRP1	O14786	p.Val709Leu	rs747937442	missense variant	-	NC_000010.11:g.33186426C>A	ExAC,gnomAD
NRP1	O14786	p.Val709Gly	rs1186703492	missense variant	-	NC_000010.11:g.33186425A>C	gnomAD
NRP1	O14786	p.Val709Leu	rs747937442	missense variant	-	NC_000010.11:g.33186426C>G	ExAC,gnomAD
NRP1	O14786	p.Val709Met	rs747937442	missense variant	-	NC_000010.11:g.33186426C>T	ExAC,gnomAD
NRP1	O14786	p.Pro711Ser	rs1464471836	missense variant	-	NC_000010.11:g.33186420G>A	TOPMed,gnomAD
NRP1	O14786	p.Pro711Ala	rs1464471836	missense variant	-	NC_000010.11:g.33186420G>C	TOPMed,gnomAD
NRP1	O14786	p.Val713Ile	rs780997720	missense variant	-	NC_000010.11:g.33186414C>T	ExAC,gnomAD
NRP1	O14786	p.Ser718Thr	rs746941565	missense variant	-	NC_000010.11:g.33186399A>T	ExAC,gnomAD
NRP1	O14786	p.Ser718Pro	rs746941565	missense variant	-	NC_000010.11:g.33186399A>G	ExAC,gnomAD
NRP1	O14786	p.Ala719Thr	rs779467840	missense variant	-	NC_000010.11:g.33186396C>T	ExAC,gnomAD
NRP1	O14786	p.His720Arg	rs1244672329	missense variant	-	NC_000010.11:g.33186392T>C	TOPMed
NRP1	O14786	p.Met722Leu	rs1015836785	missense variant	-	NC_000010.11:g.33186387T>G	TOPMed,gnomAD
NRP1	O14786	p.Met722Val	rs1015836785	missense variant	-	NC_000010.11:g.33186387T>C	TOPMed,gnomAD
NRP1	O14786	p.Thr723Asn	rs1433776872	missense variant	-	NC_000010.11:g.33186383G>T	gnomAD
NRP1	O14786	p.His727Tyr	rs1365277992	missense variant	-	NC_000010.11:g.33186372G>A	gnomAD
NRP1	O14786	p.Ser729Thr	rs1182856724	missense variant	-	NC_000010.11:g.33186366A>T	TOPMed
NRP1	O14786	p.Ser731Phe	rs757977129	missense variant	-	NC_000010.11:g.33186359G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.His732Gln	rs376053165	missense variant	-	NC_000010.11:g.33186355G>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.His732Arg	rs750158069	missense variant	-	NC_000010.11:g.33186356T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val733Ile	rs2228638	missense variant	-	NC_000010.11:g.33186354C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly734Ser	rs767902777	missense variant	-	NC_000010.11:g.33186351C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly734Val	rs760005002	missense variant	-	NC_000010.11:g.33186350C>A	ExAC,gnomAD
NRP1	O14786	p.Thr735Ile	rs766507281	missense variant	-	NC_000010.11:g.33186347G>A	ExAC,gnomAD
NRP1	O14786	p.Arg741Cys	rs944958142	missense variant	-	NC_000010.11:g.33186330G>A	TOPMed
NRP1	O14786	p.Arg741His	rs554872876	missense variant	-	NC_000010.11:g.33186329C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Tyr742His	rs1433051547	missense variant	-	NC_000010.11:g.33186327A>G	TOPMed
NRP1	O14786	p.Glu747Asp	rs1350476471	missense variant	-	NC_000010.11:g.33186310C>A	gnomAD
NRP1	O14786	p.Asp749Tyr	rs566477081	missense variant	-	NC_000010.11:g.33186306C>A	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Asp749Asn	rs566477081	missense variant	-	NC_000010.11:g.33186306C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Gln750Pro	rs374865894	missense variant	-	NC_000010.11:g.33186302T>G	ESP,ExAC,gnomAD
NRP1	O14786	p.Val752Ile	rs746985525	missense variant	-	NC_000010.11:g.33186297C>T	ExAC,gnomAD
NRP1	O14786	p.Val752Phe	rs746985525	missense variant	-	NC_000010.11:g.33186297C>A	ExAC,gnomAD
NRP1	O14786	p.Met754Ile	rs780027653	missense variant	-	NC_000010.11:g.33186289C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile756Met	rs1014030560	missense variant	-	NC_000010.11:g.33186283A>C	gnomAD
NRP1	O14786	p.Ile756Thr	rs772069753	missense variant	-	NC_000010.11:g.33186284A>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gln759Glu	rs745403355	missense variant	-	NC_000010.11:g.33186276G>C	ExAC,gnomAD
NRP1	O14786	p.Gly760Ser	rs778519380	missense variant	-	NC_000010.11:g.33186273C>T	ExAC,gnomAD
NRP1	O14786	p.Gly760Asp	rs370641686	missense variant	-	NC_000010.11:g.33186272C>T	ESP,TOPMed,gnomAD
NRP1	O14786	p.Arg767His	rs148799934	missense variant	-	NC_000010.11:g.33186251C>T	ESP,TOPMed,gnomAD
NRP1	O14786	p.Arg767Cys	rs924149280	missense variant	-	NC_000010.11:g.33186252G>A	TOPMed
NRP1	O14786	p.Lys772Glu	rs757021030	missense variant	-	NC_000010.11:g.33186237T>C	ExAC,gnomAD
NRP1	O14786	p.Leu774Pro	rs753501647	missense variant	-	NC_000010.11:g.33186230A>G	ExAC,gnomAD
NRP1	O14786	p.Tyr777His	rs1486897650	missense variant	-	NC_000010.11:g.33186222A>G	gnomAD
NRP1	O14786	p.Tyr777Phe	rs1409925844	missense variant	-	NC_000010.11:g.33186221T>A	gnomAD
NRP1	O14786	p.Val779Leu	rs775108406	missense variant	-	NC_000010.11:g.33185724C>A	ExAC,gnomAD
NRP1	O14786	p.Gly783Asp	rs1235145790	missense variant	-	NC_000010.11:g.33185711C>T	gnomAD
NRP1	O14786	p.Glu784Lys	rs373328655	missense variant	-	NC_000010.11:g.33185709C>T	1000Genomes,ESP,ExAC,gnomAD
NRP1	O14786	p.Gly786Arg	rs777499693	missense variant	-	NC_000010.11:g.33185703C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly788Glu	rs148330417	missense variant	-	NC_000010.11:g.33185696C>T	ExAC,gnomAD
NRP1	O14786	p.Gly791Cys	rs550284385	missense variant	-	NC_000010.11:g.33185688C>A	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gly791Asp	rs370117610	missense variant	-	NC_000010.11:g.33185687C>T	ESP,ExAC,gnomAD
NRP1	O14786	p.Gly791Arg	rs550284385	missense variant	-	NC_000010.11:g.33185688C>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val795Met	rs1330613852	missense variant	-	NC_000010.11:g.33185676C>T	gnomAD
NRP1	O14786	p.Asp797His	rs757346128	missense variant	-	NC_000010.11:g.33185670C>G	ExAC,gnomAD
NRP1	O14786	p.Ser799Asn	rs1283585996	missense variant	-	NC_000010.11:g.33185663C>T	TOPMed
NRP1	O14786	p.Asn802Lys	rs1346992017	missense variant	-	NC_000010.11:g.33185653G>T	TOPMed
NRP1	O14786	p.His803Tyr	rs753801764	missense variant	-	NC_000010.11:g.33185652G>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile804Leu	rs764409827	missense variant	-	NC_000010.11:g.33185649T>G	ExAC,gnomAD
NRP1	O14786	p.Gln806His	rs760760392	missense variant	-	NC_000010.11:g.33185641T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu807Ala	rs775477172	missense variant	-	NC_000010.11:g.33185639T>G	ExAC,gnomAD
NRP1	O14786	p.Ala810Val	rs1477961818	missense variant	-	NC_000010.11:g.33185630G>A	gnomAD
NRP1	O14786	p.Lys818Asn	rs764058650	missense variant	-	NC_000010.11:g.33182726C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys818Gln	rs1447208247	missense variant	-	NC_000010.11:g.33182728T>G	TOPMed,gnomAD
NRP1	O14786	p.Asn819Tyr	rs1188820892	missense variant	-	NC_000010.11:g.33182725T>A	gnomAD
NRP1	O14786	p.Pro820Leu	rs1381061538	missense variant	-	NC_000010.11:g.33182721G>A	TOPMed
NRP1	O14786	p.Pro820Thr	rs756401925	missense variant	-	NC_000010.11:g.33182722G>T	ExAC,gnomAD
NRP1	O14786	p.Glu821Ter	rs1235553581	stop gained	-	NC_000010.11:g.33182719C>A	gnomAD
NRP1	O14786	p.Ile822Leu	rs972629078	missense variant	-	NC_000010.11:g.33182716T>G	TOPMed
NRP1	O14786	p.Ile822Val	rs972629078	missense variant	-	NC_000010.11:g.33182716T>C	TOPMed
NRP1	O14786	p.Ile824Thr	rs201570278	missense variant	-	NC_000010.11:g.33182709A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asp825Gly	rs767480570	missense variant	-	NC_000010.11:g.33182706T>C	ExAC,gnomAD
NRP1	O14786	p.Thr827Arg	rs759421479	missense variant	-	NC_000010.11:g.33182700G>C	ExAC,gnomAD
NRP1	O14786	p.Thr830Met	rs750320738	missense variant	-	NC_000010.11:g.33180359G>A	ExAC,gnomAD
NRP1	O14786	p.Gly832Glu	rs1257885477	missense variant	-	NC_000010.11:g.33180353C>T	TOPMed,gnomAD
NRP1	O14786	p.Glu834Asp	rs936099600	missense variant	-	NC_000010.11:g.33180346T>A	gnomAD
NRP1	O14786	p.Glu834Ter	rs150351789	stop gained	-	NC_000010.11:g.33180348C>A	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu834Lys	rs150351789	missense variant	-	NC_000010.11:g.33180348C>T	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Glu836Lys	rs760298219	missense variant	-	NC_000010.11:g.33180342C>T	ExAC,gnomAD
NRP1	O14786	p.Glu838Lys	rs774819716	missense variant	-	NC_000010.11:g.33180336C>T	ExAC,gnomAD
NRP1	O14786	p.Gly839Arg	rs771196307	missense variant	-	NC_000010.11:g.33180333C>G	ExAC,gnomAD
NRP1	O14786	p.Gly839Cys	rs771196307	missense variant	-	NC_000010.11:g.33180333C>A	ExAC,gnomAD
NRP1	O14786	p.Asp840Val	rs1252527101	missense variant	-	NC_000010.11:g.33180329T>A	TOPMed,gnomAD
NRP1	O14786	p.Asp840Asn	rs540022294	missense variant	-	NC_000010.11:g.33180330C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Asp840Gly	rs1252527101	missense variant	-	NC_000010.11:g.33180329T>C	TOPMed,gnomAD
NRP1	O14786	p.Ile843Val	rs770361179	missense variant	-	NC_000010.11:g.33180321T>C	ExAC,gnomAD
NRP1	O14786	p.Ile843Thr	rs940939644	missense variant	-	NC_000010.11:g.33180320A>G	TOPMed,gnomAD
NRP1	O14786	p.Ser844Phe	rs1221143595	missense variant	-	NC_000010.11:g.33180317G>A	gnomAD
NRP1	O14786	p.Lys846Met	rs781376715	missense variant	-	NC_000010.11:g.33180311T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Lys846Asn	rs755296281	missense variant	-	NC_000010.11:g.33180310C>G	ExAC,gnomAD
NRP1	O14786	p.Pro847Ala	rs568761627	missense variant	-	NC_000010.11:g.33180309G>C	TOPMed,gnomAD
NRP1	O14786	p.Gly848Asp	rs774860746	missense variant	-	NC_000010.11:g.33180305C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asn849Asp	rs200321543	missense variant	-	NC_000010.11:g.33180303T>C	1000Genomes
NRP1	O14786	p.Asp855Glu	rs1048803	missense variant	-	NC_000010.11:g.33180283G>T	ExAC,gnomAD
NRP1	O14786	p.Pro856Thr	rs761698307	missense variant	-	NC_000010.11:g.33180282G>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile857Met	rs144845322	missense variant	-	NC_000010.11:g.33180277G>C	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile857Val	rs1454993218	missense variant	-	NC_000010.11:g.33180279T>C	TOPMed
NRP1	O14786	p.Ile859Leu	rs760388137	missense variant	-	NC_000010.11:g.33180273T>G	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Thr860Ser	rs774993945	missense variant	-	NC_000010.11:g.33180270T>A	ExAC,gnomAD
NRP1	O14786	p.Ile861Val	rs767142032	missense variant	-	NC_000010.11:g.33180267T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile862Leu	rs763234318	missense variant	-	NC_000010.11:g.33180264T>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ile862Val	rs763234318	missense variant	-	NC_000010.11:g.33180264T>C	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala866Thr	rs548175518	missense variant	-	NC_000010.11:g.33180252C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Ala866Asp	rs748639459	missense variant	-	NC_000010.11:g.33180251G>T	ExAC
NRP1	O14786	p.Val869Ile	rs1255187775	missense variant	-	NC_000010.11:g.33180243C>T	gnomAD
NRP1	O14786	p.Leu870Phe	rs768849994	missense variant	-	NC_000010.11:g.33180240G>A	ExAC,gnomAD
NRP1	O14786	p.Ala873Thr	rs1310915221	missense variant	-	NC_000010.11:g.33180231C>T	gnomAD
NRP1	O14786	p.Val874Ile	rs567261830	missense variant	-	NC_000010.11:g.33180228C>T	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val874Leu	rs567261830	missense variant	-	NC_000010.11:g.33180228C>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Cys875Ser	rs142822518	missense variant	-	NC_000010.11:g.33180224C>G	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Val877Phe	rs778630230	missense variant	-	NC_000010.11:g.33180219C>A	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val877Ile	rs778630230	missense variant	-	NC_000010.11:g.33180219C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val878Ala	rs566437913	missense variant	-	NC_000010.11:g.33180215A>G	1000Genomes,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Val878Met	rs200330871	missense variant	-	NC_000010.11:g.33180216C>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Cys881Tyr	rs551199073	missense variant	-	NC_000010.11:g.33180206C>T	1000Genomes,ExAC,gnomAD
NRP1	O14786	p.Cys881Arg	rs1239752717	missense variant	-	NC_000010.11:g.33180207A>G	TOPMed
NRP1	O14786	p.Ala882Asp	rs1377047297	missense variant	-	NC_000010.11:g.33180203G>T	TOPMed,gnomAD
NRP1	O14786	p.Cys883Ser	rs767109785	missense variant	-	NC_000010.11:g.33180201A>T	ExAC,gnomAD
NRP1	O14786	p.Trp884Ter	rs1454813225	stop gained	-	NC_000010.11:g.33180197C>T	gnomAD
NRP1	O14786	p.His885Arg	rs1186925076	missense variant	-	NC_000010.11:g.33180194T>C	gnomAD
NRP1	O14786	p.His885Tyr	rs1396890390	missense variant	-	NC_000010.11:g.33180195G>A	gnomAD
NRP1	O14786	p.Asn886Thr	rs143988888	missense variant	-	NC_000010.11:g.33180191T>G	ESP,ExAC,TOPMed,gnomAD
NRP1	O14786	p.Asn886Lys	rs532941278	missense variant	-	NC_000010.11:g.33180190A>T	1000Genomes,gnomAD
NRP1	O14786	p.Met888Leu	rs762474175	missense variant	-	NC_000010.11:g.33180186T>A	ExAC,gnomAD
NRP1	O14786	p.Ser889Pro	rs1015021561	missense variant	-	NC_000010.11:g.33180183A>G	gnomAD
NRP1	O14786	p.Glu897Gln	rs777261396	missense variant	-	NC_000010.11:g.33180159C>G	ExAC,gnomAD
NRP1	O14786	p.Tyr899Cys	rs769226149	missense variant	-	NC_000010.11:g.33180152T>C	ExAC,gnomAD
NRP1	O14786	p.Leu903Arg	rs967172509	missense variant	-	NC_000010.11:g.33180140A>C	TOPMed
NRP1	O14786	p.Asp905Gly	rs1433057157	missense variant	-	NC_000010.11:g.33180134T>C	gnomAD
NRP1	O14786	p.Leu909Trp	rs775598824	missense variant	-	NC_000010.11:g.33180122A>C	ExAC,gnomAD
NRP1	O14786	p.Asp912Gly	rs1394130158	missense variant	-	NC_000010.11:g.33180113T>C	gnomAD
NRP1	O14786	p.Leu914Arg	rs772205833	missense variant	-	NC_000010.11:g.33180107A>C	ExAC,gnomAD
NRP1	O14786	p.Asn915Lys	rs746072156	missense variant	-	NC_000010.11:g.33180103A>T	ExAC,TOPMed,gnomAD
NRP1	O14786	p.Gln917His	rs1158664603	missense variant	-	NC_000010.11:g.33180097C>G	gnomAD
NRP1	O14786	p.Ser918Arg	rs778746900	missense variant	-	NC_000010.11:g.33180096T>G	ExAC,gnomAD
NRP1	O14786	p.Ser921Ter	rs1265772039	stop gained	-	NC_000010.11:g.33180086G>T	TOPMed
NRP1	O14786	p.Ala923Ser	rs749026902	missense variant	-	NC_000010.11:g.33180081C>A	ExAC,TOPMed
MSTN	O14793	p.Gln2Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062592T>A	NCI-TCGA
MSTN	O14793	p.Gln2Arg	rs1412008383	missense variant	-	NC_000002.12:g.190062592T>C	gnomAD
MSTN	O14793	p.Lys3AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.190062588T>-	NCI-TCGA
MSTN	O14793	p.Lys3Thr	rs1273435194	missense variant	-	NC_000002.12:g.190062589T>G	gnomAD
MSTN	O14793	p.Val8Ile	rs372790208	missense variant	-	NC_000002.12:g.190062575C>T	ESP,ExAC,gnomAD
MSTN	O14793	p.Ile10Leu	COSM3971933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062569T>G	NCI-TCGA Cosmic
MSTN	O14793	p.Ile10Val	rs1405298432	missense variant	-	NC_000002.12:g.190062569T>C	gnomAD
MSTN	O14793	p.Tyr11His	rs750361333	missense variant	-	NC_000002.12:g.190062566A>G	ExAC,gnomAD
MSTN	O14793	p.Leu12Pro	rs1327091416	missense variant	-	NC_000002.12:g.190062562A>G	gnomAD
MSTN	O14793	p.Phe13Val	rs889150581	missense variant	-	NC_000002.12:g.190062560A>C	TOPMed,gnomAD
MSTN	O14793	p.Met14Ile	rs757078479	missense variant	-	NC_000002.12:g.190062555C>G	ExAC,gnomAD
MSTN	O14793	p.Met14Thr	rs767299841	missense variant	-	NC_000002.12:g.190062556A>G	ExAC,gnomAD
MSTN	O14793	p.Met14Val	rs1397224531	missense variant	-	NC_000002.12:g.190062557T>C	gnomAD
MSTN	O14793	p.Ile16Thr	rs200820992	missense variant	-	NC_000002.12:g.190062550A>G	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Ala18Ser	rs369459186	missense variant	-	NC_000002.12:g.190062545C>A	ESP,ExAC,gnomAD
MSTN	O14793	p.Gly19Asp	rs775178188	missense variant	-	NC_000002.12:g.190062541C>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Gly19Arg	rs1201999957	missense variant	-	NC_000002.12:g.190062542C>G	gnomAD
MSTN	O14793	p.Gly19Ser	rs1201999957	missense variant	-	NC_000002.12:g.190062542C>T	gnomAD
MSTN	O14793	p.Val21Met	rs919497329	missense variant	-	NC_000002.12:g.190062536C>T	TOPMed,gnomAD
MSTN	O14793	p.Glu25Lys	rs375435525	missense variant	-	NC_000002.12:g.190062524C>T	ESP,ExAC,gnomAD
MSTN	O14793	p.Asn26Asp	rs761141037	missense variant	-	NC_000002.12:g.190062521T>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Asn26Ser	rs1349574007	missense variant	-	NC_000002.12:g.190062520T>C	TOPMed,gnomAD
MSTN	O14793	p.Asn26His	rs761141037	missense variant	-	NC_000002.12:g.190062521T>G	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Ser27Arg	rs1444614625	missense variant	-	NC_000002.12:g.190062516A>T	gnomAD
MSTN	O14793	p.Glu28Lys	rs533241314	missense variant	-	NC_000002.12:g.190062515C>T	1000Genomes,ExAC,gnomAD
MSTN	O14793	p.Gln29Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062511T>C	NCI-TCGA
MSTN	O14793	p.Gln29Lys	rs374273494	missense variant	-	NC_000002.12:g.190062512G>T	ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Lys30Asn	rs1408408724	missense variant	-	NC_000002.12:g.190062507T>G	gnomAD
MSTN	O14793	p.Lys30Thr	rs144348365	missense variant	-	NC_000002.12:g.190062508T>G	ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Asn32Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062501A>C	NCI-TCGA
MSTN	O14793	p.Glu36ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.190062491_190062492insT	NCI-TCGA
MSTN	O14793	p.Glu36Gln	rs1457241873	missense variant	-	NC_000002.12:g.190062491C>G	gnomAD
MSTN	O14793	p.Asn40Lys	rs562815480	missense variant	-	NC_000002.12:g.190062477A>T	1000Genomes,ExAC,gnomAD
MSTN	O14793	p.Asn40Asp	rs1258022991	missense variant	-	NC_000002.12:g.190062479T>C	TOPMed
MSTN	O14793	p.Cys42Ser	rs1483694139	missense variant	-	NC_000002.12:g.190062473A>T	TOPMed
MSTN	O14793	p.Thr43Ile	rs768909803	missense variant	-	NC_000002.12:g.190062469G>A	ExAC,gnomAD
MSTN	O14793	p.Trp44Cys	rs1182619306	missense variant	-	NC_000002.12:g.190062465C>A	gnomAD
MSTN	O14793	p.Trp44Arg	rs749509789	missense variant	-	NC_000002.12:g.190062467A>G	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Arg45Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062463C>A	NCI-TCGA
MSTN	O14793	p.Arg45Lys	rs780167334	missense variant	-	NC_000002.12:g.190062463C>T	ExAC,gnomAD
MSTN	O14793	p.Gln46His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062459T>G	NCI-TCGA
MSTN	O14793	p.Thr48Ala	COSM3990926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062455T>C	NCI-TCGA Cosmic
MSTN	O14793	p.Thr48Ile	rs1264461768	missense variant	-	NC_000002.12:g.190062454G>A	gnomAD
MSTN	O14793	p.Lys49Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062450T>G	NCI-TCGA
MSTN	O14793	p.Lys49Glu	rs149462136	missense variant	-	NC_000002.12:g.190062452T>C	ESP,ExAC,gnomAD
MSTN	O14793	p.Ser51Ter	COSM3838155	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.190062445G>C	NCI-TCGA Cosmic
MSTN	O14793	p.Ser51Leu	rs781220890	missense variant	-	NC_000002.12:g.190062445G>A	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Arg52Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062443T>C	NCI-TCGA
MSTN	O14793	p.Arg52Ile	COSM1215622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062442C>A	NCI-TCGA Cosmic
MSTN	O14793	p.Arg52Lys	rs757093012	missense variant	-	NC_000002.12:g.190062442C>T	ExAC,TOPMed
MSTN	O14793	p.Ile53Lys	rs751448366	missense variant	-	NC_000002.12:g.190062439A>T	ExAC,gnomAD
MSTN	O14793	p.Glu54Lys	rs763949397	missense variant	-	NC_000002.12:g.190062437C>T	ExAC,gnomAD
MSTN	O14793	p.Glu54Gln	rs763949397	missense variant	-	NC_000002.12:g.190062437C>G	ExAC,gnomAD
MSTN	O14793	p.Ala55Thr	RCV000311796	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190062434C>T	ClinVar
MSTN	O14793	p.Ala55Thr	rs1805085	missense variant	-	NC_000002.12:g.190062434C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Ala55Thr	rs1805085	missense variant	-	NC_000002.12:g.190062434C>T	UniProt,dbSNP
MSTN	O14793	p.Ala55Thr	VAR_014475	missense variant	-	NC_000002.12:g.190062434C>T	UniProt
MSTN	O14793	p.Ala55Thr	RCV000055913	missense variant	Muscle hypertrophy (MSLHP)	NC_000002.12:g.190062434C>T	ClinVar
MSTN	O14793	p.Ile56Met	COSM718807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062429A>C	NCI-TCGA Cosmic
MSTN	O14793	p.Ile56Thr	rs1385082025	missense variant	-	NC_000002.12:g.190062430A>G	TOPMed,gnomAD
MSTN	O14793	p.Ile56Ser	rs1385082025	missense variant	-	NC_000002.12:g.190062430A>C	TOPMed,gnomAD
MSTN	O14793	p.Gln59Arg	rs764734901	missense variant	-	NC_000002.12:g.190062421T>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Gln59Ter	rs1428435597	stop gained	-	NC_000002.12:g.190062422G>A	TOPMed
MSTN	O14793	p.Leu64Phe	rs1450639427	missense variant	-	NC_000002.12:g.190062407G>A	TOPMed
MSTN	O14793	p.Arg65Cys	rs753241714	missense variant	-	NC_000002.12:g.190062404G>A	ExAC,gnomAD
MSTN	O14793	p.Arg65His	rs34094280	missense variant	-	NC_000002.12:g.190062403C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Glu67Gln	rs762279211	missense variant	-	NC_000002.12:g.190062398C>G	ExAC,gnomAD
MSTN	O14793	p.Glu67Lys	rs762279211	missense variant	-	NC_000002.12:g.190062398C>T	ExAC,gnomAD
MSTN	O14793	p.Pro70Arg	rs1435139962	missense variant	-	NC_000002.12:g.190062388G>C	TOPMed
MSTN	O14793	p.Ser73Asn	COSM1014090	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062379C>T	NCI-TCGA Cosmic
MSTN	O14793	p.Lys74Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062376T>A	NCI-TCGA
MSTN	O14793	p.Lys74Arg	rs768995951	missense variant	-	NC_000002.12:g.190062376T>C	ExAC,gnomAD
MSTN	O14793	p.IleArgGln77IleArgGlnTerAspUnk	rs1345198829	stop gained	-	NC_000002.12:g.190062368_190062369insTGTCTTAT	TOPMed,gnomAD
MSTN	O14793	p.Ile77Thr	rs1022415104	missense variant	-	NC_000002.12:g.190062367A>G	TOPMed
MSTN	O14793	p.Ile77Val	rs1244428201	missense variant	-	NC_000002.12:g.190062368T>C	gnomAD
MSTN	O14793	p.Gln79Leu	rs1485279699	missense variant	-	NC_000002.12:g.190062361T>A	gnomAD
MSTN	O14793	p.Leu80Val	rs769867063	missense variant	-	NC_000002.12:g.190062359G>C	ExAC,gnomAD
MSTN	O14793	p.Pro82Ser	rs956623699	missense variant	-	NC_000002.12:g.190062353G>A	TOPMed,gnomAD
MSTN	O14793	p.Ala84Gly	rs573037946	missense variant	-	NC_000002.12:g.190062346G>C	1000Genomes,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Pro85Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062344G>A	NCI-TCGA
MSTN	O14793	p.Pro86Leu	rs1290851653	missense variant	-	NC_000002.12:g.190062340G>A	gnomAD
MSTN	O14793	p.Leu87Phe	rs1361926213	missense variant	-	NC_000002.12:g.190062338G>A	TOPMed,gnomAD
MSTN	O14793	p.Arg88Gln	rs138343163	missense variant	-	NC_000002.12:g.190062334C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Arg88Trp	rs1315783994	missense variant	-	NC_000002.12:g.190062335G>A	TOPMed,gnomAD
MSTN	O14793	p.Arg88Gln	RCV000762305	missense variant	-	NC_000002.12:g.190062334C>T	ClinVar
MSTN	O14793	p.Glu89Lys	rs1359981704	missense variant	-	NC_000002.12:g.190062332C>T	gnomAD
MSTN	O14793	p.Ile91Met	rs1291084070	missense variant	-	NC_000002.12:g.190062324A>C	gnomAD
MSTN	O14793	p.Ile91Thr	rs746936791	missense variant	-	NC_000002.12:g.190062325A>G	ExAC,TOPMed
MSTN	O14793	p.Tyr94Cys	rs1448196193	missense variant	-	NC_000002.12:g.190062316T>C	TOPMed
MSTN	O14793	p.Val96Ala	rs1349656684	missense variant	-	NC_000002.12:g.190062310A>G	TOPMed,gnomAD
MSTN	O14793	p.Arg98Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062304C>A	NCI-TCGA
MSTN	O14793	p.Arg98Ser	rs758277625	missense variant	-	NC_000002.12:g.190062303C>G	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Asp99Gly	rs752470300	missense variant	-	NC_000002.12:g.190062301T>C	ExAC,gnomAD
MSTN	O14793	p.Asp100His	rs1334290595	missense variant	-	NC_000002.12:g.190062299C>G	gnomAD
MSTN	O14793	p.Ser102Arg	rs34191156	missense variant	-	NC_000002.12:g.190062291G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Asp103Asn	rs575523122	missense variant	-	NC_000002.12:g.190062290C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Gly104Ser	rs1188202867	missense variant	-	NC_000002.12:g.190062287C>T	gnomAD
MSTN	O14793	p.Leu106Phe	rs762366961	missense variant	-	NC_000002.12:g.190062279C>G	ExAC,gnomAD
MSTN	O14793	p.Glu107Gln	COSM1565198	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062278C>G	NCI-TCGA Cosmic
MSTN	O14793	p.Glu107GluAsnTerIleSerTerCysValSerUnk	rs768872289	stop gained	-	NC_000002.12:g.190062277_190062278insACTAACACATTAAGATATTTAATTTT	ExAC
MSTN	O14793	p.Asp108GluGlnTerUnk	rs747305835	stop gained	-	NC_000002.12:g.190062274_190062275insTATTGTT	ExAC
MSTN	O14793	p.Asp109Glu	rs369218409	missense variant	-	NC_000002.12:g.190062270G>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Asp110Asn	rs371576724	missense variant	-	NC_000002.12:g.190062269C>T	ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Tyr111His	rs770103165	missense variant	-	NC_000002.12:g.190062266A>G	ExAC,gnomAD
MSTN	O14793	p.Tyr111Cys	rs1428524691	missense variant	-	NC_000002.12:g.190062265T>C	TOPMed,gnomAD
MSTN	O14793	p.His112Arg	rs759643603	missense variant	-	NC_000002.12:g.190062262T>C	ExAC,gnomAD
MSTN	O14793	p.Ala113Thr	rs1055681318	missense variant	-	NC_000002.12:g.190062260C>T	gnomAD
MSTN	O14793	p.Ala113Pro	rs1055681318	missense variant	-	NC_000002.12:g.190062260C>G	gnomAD
MSTN	O14793	p.Thr114Ala	rs771117616	missense variant	-	NC_000002.12:g.190062257T>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Thr115Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062254T>A	NCI-TCGA
MSTN	O14793	p.Thr115Ala	rs747024902	missense variant	-	NC_000002.12:g.190062254T>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Thr115Met	rs535776509	missense variant	-	NC_000002.12:g.190062253G>A	1000Genomes,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Thr117Arg	rs1303314194	missense variant	-	NC_000002.12:g.190062247G>C	gnomAD
MSTN	O14793	p.Ile118Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062244A>C	NCI-TCGA
MSTN	O14793	p.Met121Thr	rs772090278	missense variant	-	NC_000002.12:g.190062235A>G	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Pro122Thr	rs1036533067	missense variant	-	NC_000002.12:g.190062233G>T	TOPMed
MSTN	O14793	p.Thr123Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190062230T>C	NCI-TCGA
MSTN	O14793	p.Glu124Gln	COSM1306233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190062227C>G	NCI-TCGA Cosmic
MSTN	O14793	p.Ser125Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190060435G>T	NCI-TCGA
MSTN	O14793	p.Phe127Leu	rs1271356568	missense variant	-	NC_000002.12:g.190060430A>G	TOPMed
MSTN	O14793	p.Leu128Ile	rs1180881023	missense variant	-	NC_000002.12:g.190060427G>T	gnomAD
MSTN	O14793	p.Met129Thr	rs142195885	missense variant	-	NC_000002.12:g.190060423A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Met129Arg	rs142195885	missense variant	-	NC_000002.12:g.190060423A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Met129Arg	RCV000403660	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060423A>C	ClinVar
MSTN	O14793	p.Gln130Ter	rs1252874181	stop gained	-	NC_000002.12:g.190060421G>A	gnomAD
MSTN	O14793	p.Val131Ala	rs760865305	missense variant	-	NC_000002.12:g.190060417A>G	ExAC,gnomAD
MSTN	O14793	p.Asp132Val	rs1460879225	missense variant	-	NC_000002.12:g.190060414T>A	gnomAD
MSTN	O14793	p.Gly133Arg	COSM3575578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060412C>T	NCI-TCGA Cosmic
MSTN	O14793	p.Lys136Arg	rs748033945	missense variant	-	NC_000002.12:g.190060402T>C	ExAC,gnomAD
MSTN	O14793	p.Lys136Gln	rs772180319	missense variant	-	NC_000002.12:g.190060403T>G	ExAC
MSTN	O14793	p.Cys137PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.190060399C>-	NCI-TCGA
MSTN	O14793	p.Cys138Phe	rs749046927	missense variant	-	NC_000002.12:g.190060396C>A	ExAC,gnomAD
MSTN	O14793	p.Phe142Cys	COSM3896232	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060384A>C	NCI-TCGA Cosmic
MSTN	O14793	p.Ser143Thr	rs1447066367	missense variant	-	NC_000002.12:g.190060381C>G	gnomAD
MSTN	O14793	p.Ser144Phe	rs528391865	missense variant	-	NC_000002.12:g.190060378G>A	1000Genomes,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Ile146Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190060372A>G	NCI-TCGA
MSTN	O14793	p.Tyr148Cys	rs780648804	missense variant	-	NC_000002.12:g.190060366T>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Asn149His	rs1454487944	missense variant	-	NC_000002.12:g.190060364T>G	gnomAD
MSTN	O14793	p.Lys153PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.190060352_190060353insGAAA	NCI-TCGA
MSTN	O14793	p.Lys153Arg	RCV000341277	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060351T>C	ClinVar
MSTN	O14793	p.Lys153Arg	rs1805086	missense variant	-	NC_000002.12:g.190060351T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Lys153Arg	rs1805086	missense variant	-	NC_000002.12:g.190060351T>C	UniProt,dbSNP
MSTN	O14793	p.Lys153Arg	VAR_014476	missense variant	-	NC_000002.12:g.190060351T>C	UniProt
MSTN	O14793	p.Ala154Val	COSM4089689	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060348G>A	NCI-TCGA Cosmic
MSTN	O14793	p.Ala154Thr	rs765715434	missense variant	-	NC_000002.12:g.190060349C>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Leu156Ile	RCV000283902	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060343G>T	ClinVar
MSTN	O14793	p.Leu156Ile	rs35493945	missense variant	-	NC_000002.12:g.190060343G>T	1000Genomes,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Trp157Cys	rs1444304104	missense variant	-	NC_000002.12:g.190060338C>G	gnomAD
MSTN	O14793	p.Ile158Leu	rs1241336527	missense variant	-	NC_000002.12:g.190060337T>G	TOPMed,gnomAD
MSTN	O14793	p.Tyr159His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190060334A>G	NCI-TCGA
MSTN	O14793	p.Arg161Ser	rs368592643	missense variant	-	NC_000002.12:g.190060326T>A	ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Arg161Ile	rs766727311	missense variant	-	NC_000002.12:g.190060327C>A	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Val163Ile	rs1356908296	missense variant	-	NC_000002.12:g.190060322C>T	TOPMed
MSTN	O14793	p.Glu164Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190060318T>C	NCI-TCGA
MSTN	O14793	p.Glu164Lys	RCV000376122	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060319C>T	ClinVar
MSTN	O14793	p.Glu164Lys	rs35781413	missense variant	-	NC_000002.12:g.190060319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Thr165Ala	rs1490125045	missense variant	-	NC_000002.12:g.190060316T>C	TOPMed
MSTN	O14793	p.Pro166Ser	rs183476664	missense variant	-	NC_000002.12:g.190060313G>A	1000Genomes,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Thr167Ala	rs138300785	missense variant	-	NC_000002.12:g.190060310T>C	ESP,TOPMed,gnomAD
MSTN	O14793	p.Thr168Ile	rs1382580109	missense variant	-	NC_000002.12:g.190060306G>A	gnomAD
MSTN	O14793	p.Val171Leu	rs1317477204	missense variant	-	NC_000002.12:g.190060298C>A	gnomAD
MSTN	O14793	p.Gln172Arg	rs775242311	missense variant	-	NC_000002.12:g.190060294T>C	ExAC,gnomAD
MSTN	O14793	p.Gln172His	rs200908904	missense variant	-	NC_000002.12:g.190060293T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Gln172His	rs200908904	missense variant	-	NC_000002.12:g.190060293T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Leu174Met	COSM718808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060289G>T	NCI-TCGA Cosmic
MSTN	O14793	p.Leu176Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190060283G>A	NCI-TCGA
MSTN	O14793	p.Ile177Met	rs756728994	missense variant	-	NC_000002.12:g.190060278G>C	ExAC,gnomAD
MSTN	O14793	p.Ile177Thr	rs368267720	missense variant	-	NC_000002.12:g.190060279A>G	ESP,TOPMed,gnomAD
MSTN	O14793	p.Ile177Leu	rs191779769	missense variant	-	NC_000002.12:g.190060280T>G	1000Genomes,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Lys178Thr	rs1364168928	missense variant	-	NC_000002.12:g.190060276T>G	TOPMed
MSTN	O14793	p.Met180Val	rs200189586	missense variant	-	NC_000002.12:g.190060271T>C	1000Genomes,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Met180Thr	rs141411451	missense variant	-	NC_000002.12:g.190060270A>G	ESP,ExAC,gnomAD
MSTN	O14793	p.Asp182Gly	rs1473134460	missense variant	-	NC_000002.12:g.190060264T>C	gnomAD
MSTN	O14793	p.Gly183Ser	rs749141789	missense variant	-	NC_000002.12:g.190060262C>T	ExAC,gnomAD
MSTN	O14793	p.Gly183Val	rs1449289628	missense variant	-	NC_000002.12:g.190060261C>A	gnomAD
MSTN	O14793	p.Gly183Arg	rs749141789	missense variant	-	NC_000002.12:g.190060262C>G	ExAC,gnomAD
MSTN	O14793	p.Thr184Ile	RCV000319193	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060258G>A	ClinVar
MSTN	O14793	p.Thr184Ile	rs369290669	missense variant	-	NC_000002.12:g.190060258G>A	ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Thr187Asn	rs370978355	missense variant	-	NC_000002.12:g.190060249G>T	ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Ile189Phe	COSM4089687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060244T>A	NCI-TCGA Cosmic
MSTN	O14793	p.Arg190Gln	rs761832176	missense variant	-	NC_000002.12:g.190060240C>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Arg190Leu	rs761832176	missense variant	-	NC_000002.12:g.190060240C>A	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Asp195Tyr	rs930314905	missense variant	-	NC_000002.12:g.190060226C>A	TOPMed,gnomAD
MSTN	O14793	p.Asp195His	rs930314905	missense variant	-	NC_000002.12:g.190060226C>G	TOPMed,gnomAD
MSTN	O14793	p.Asp195Gly	rs1278803357	missense variant	-	NC_000002.12:g.190060225T>C	gnomAD
MSTN	O14793	p.Met196Leu	rs541715082	missense variant	-	NC_000002.12:g.190060223T>A	1000Genomes,ExAC,gnomAD
MSTN	O14793	p.Met196Val	rs541715082	missense variant	-	NC_000002.12:g.190060223T>C	1000Genomes,ExAC,gnomAD
MSTN	O14793	p.Asn197His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190060220T>G	NCI-TCGA
MSTN	O14793	p.Asn197Thr	rs1363501902	missense variant	-	NC_000002.12:g.190060219T>G	gnomAD
MSTN	O14793	p.Pro198Ala	rs368949692	missense variant	-	NC_000002.12:g.190060217G>C	ESP,ExAC,gnomAD
MSTN	O14793	p.Gly199Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190060214C>A	NCI-TCGA
MSTN	O14793	p.Gly199Ser	rs1395843757	missense variant	-	NC_000002.12:g.190060214C>T	gnomAD
MSTN	O14793	p.Gly201Asp	rs776267734	missense variant	-	NC_000002.12:g.190060207C>T	ExAC,gnomAD
MSTN	O14793	p.Trp203Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.190060200C>T	NCI-TCGA
MSTN	O14793	p.Ser205Arg	COSM442013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060196T>G	NCI-TCGA Cosmic
MSTN	O14793	p.Ser205Ile	rs577625650	missense variant	-	NC_000002.12:g.190060195C>A	1000Genomes,ExAC,gnomAD
MSTN	O14793	p.Ile206Thr	rs912777007	missense variant	-	NC_000002.12:g.190060192A>G	TOPMed
MSTN	O14793	p.Asp207Tyr	COSM1014087	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060190C>A	NCI-TCGA Cosmic
MSTN	O14793	p.Asp207His	rs746519464	missense variant	-	NC_000002.12:g.190060190C>G	ExAC,gnomAD
MSTN	O14793	p.Thr210Ile	rs769113436	missense variant	-	NC_000002.12:g.190060180G>A	ExAC,TOPMed
MSTN	O14793	p.Val211Leu	rs1271593255	missense variant	-	NC_000002.12:g.190060178C>G	TOPMed,gnomAD
MSTN	O14793	p.Val211Glu	rs1200538039	missense variant	-	NC_000002.12:g.190060177A>T	gnomAD
MSTN	O14793	p.Val211Leu	rs1271593255	missense variant	-	NC_000002.12:g.190060178C>A	TOPMed,gnomAD
MSTN	O14793	p.Val211Ala	rs1200538039	missense variant	-	NC_000002.12:g.190060177A>G	gnomAD
MSTN	O14793	p.Leu212AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.190060178_190060179CT>-	NCI-TCGA
MSTN	O14793	p.Leu212Met	rs749802472	missense variant	-	NC_000002.12:g.190060175A>T	ExAC,gnomAD
MSTN	O14793	p.Gln213Ter	rs1271648192	stop gained	-	NC_000002.12:g.190060172G>A	gnomAD
MSTN	O14793	p.Leu216Val	rs1340892305	missense variant	-	NC_000002.12:g.190060163G>C	gnomAD
MSTN	O14793	p.Gln218Glu	rs1222830081	missense variant	-	NC_000002.12:g.190060157G>C	gnomAD
MSTN	O14793	p.Pro219Leu	COSM1482567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060153G>A	NCI-TCGA Cosmic
MSTN	O14793	p.Asn222Ser	rs756553031	missense variant	-	NC_000002.12:g.190060144T>C	ExAC,gnomAD
MSTN	O14793	p.Gly224Cys	COSM282896	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060139C>A	NCI-TCGA Cosmic
MSTN	O14793	p.Gly224Val	rs1285022537	missense variant	-	NC_000002.12:g.190060138C>A	TOPMed,gnomAD
MSTN	O14793	p.Gly224Ser	rs1186025207	missense variant	-	NC_000002.12:g.190060139C>T	TOPMed
MSTN	O14793	p.Ile225Thr	RCV000280530	missense variant	Myostatin-related muscle hypertrophy	NC_000002.12:g.190060135A>G	ClinVar
MSTN	O14793	p.Ile225Thr	rs143242500	missense variant	-	NC_000002.12:g.190060135A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Ile225Val	rs750779494	missense variant	-	NC_000002.12:g.190060136T>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.His235Arg	rs1176249126	missense variant	-	NC_000002.12:g.190060105T>C	gnomAD
MSTN	O14793	p.Asp236Val	rs764230030	missense variant	-	NC_000002.12:g.190060102T>A	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Asp236Gly	rs764230030	missense variant	-	NC_000002.12:g.190060102T>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Leu237Ile	rs1431878218	missense variant	-	NC_000002.12:g.190060100G>T	TOPMed,gnomAD
MSTN	O14793	p.Leu237Phe	rs1431878218	missense variant	-	NC_000002.12:g.190060100G>A	TOPMed,gnomAD
MSTN	O14793	p.Ala238Val	rs188199560	missense variant	-	NC_000002.12:g.190060096G>A	1000Genomes,ESP,TOPMed,gnomAD
MSTN	O14793	p.Ala238Thr	rs148890508	missense variant	-	NC_000002.12:g.190060097C>T	ESP,ExAC,gnomAD
MSTN	O14793	p.Thr240Asn	rs765088834	missense variant	-	NC_000002.12:g.190060090G>T	ExAC,gnomAD
MSTN	O14793	p.Phe241Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190060086G>T	NCI-TCGA
MSTN	O14793	p.Phe241Leu	rs776358005	missense variant	-	NC_000002.12:g.190060088A>G	ExAC,gnomAD
MSTN	O14793	p.Pro242Ser	rs376218617	missense variant	-	NC_000002.12:g.190060085G>A	ESP
MSTN	O14793	p.Gly243Arg	COSM4918536	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190060082C>T	NCI-TCGA Cosmic
MSTN	O14793	p.Pro244Ala	rs770535740	missense variant	-	NC_000002.12:g.190060079G>C	ExAC,gnomAD
MSTN	O14793	p.Asp247Asn	rs934040293	missense variant	-	NC_000002.12:g.190060070C>T	TOPMed,gnomAD
MSTN	O14793	p.Leu249Pro	rs142198675	missense variant	-	NC_000002.12:g.190060063A>G	ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Asn250Asp	rs773978578	missense variant	-	NC_000002.12:g.190057638T>C	ExAC,gnomAD
MSTN	O14793	p.Pro251Leu	rs567560486	missense variant	-	NC_000002.12:g.190057634G>A	1000Genomes,ExAC,gnomAD
MSTN	O14793	p.Phe252Leu	rs1380486924	missense variant	-	NC_000002.12:g.190057632A>G	gnomAD
MSTN	O14793	p.Lys256Met	rs776915480	missense variant	-	NC_000002.12:g.190057619T>A	ExAC,gnomAD
MSTN	O14793	p.Val257Leu	rs771339825	missense variant	-	NC_000002.12:g.190057617C>A	ExAC,gnomAD
MSTN	O14793	p.Asp259His	rs938778820	missense variant	-	NC_000002.12:g.190057611C>G	TOPMed
MSTN	O14793	p.Pro261Leu	COSM3575575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057604G>A	NCI-TCGA Cosmic
MSTN	O14793	p.Pro261Thr	rs747269695	missense variant	-	NC_000002.12:g.190057605G>T	ExAC,gnomAD
MSTN	O14793	p.Pro261Ser	rs747269695	missense variant	-	NC_000002.12:g.190057605G>A	ExAC,gnomAD
MSTN	O14793	p.Arg263LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.190057598_190057599insT	NCI-TCGA
MSTN	O14793	p.Arg263AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.190057599T>-	NCI-TCGA
MSTN	O14793	p.Arg263Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190057598C>T	NCI-TCGA
MSTN	O14793	p.Arg265Lys	rs778083631	missense variant	-	NC_000002.12:g.190057592C>T	ExAC,gnomAD
MSTN	O14793	p.Arg266Gly	rs1390302339	missense variant	-	NC_000002.12:g.190057590T>C	TOPMed,gnomAD
MSTN	O14793	p.Gly269Cys	rs748274574	missense variant	-	NC_000002.12:g.190057581C>A	ExAC,gnomAD
MSTN	O14793	p.Gly269Asp	rs778930519	missense variant	-	NC_000002.12:g.190057580C>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Gly269Arg	rs748274574	missense variant	-	NC_000002.12:g.190057581C>G	ExAC,gnomAD
MSTN	O14793	p.Leu270Arg	rs914836580	missense variant	-	NC_000002.12:g.190057577A>C	TOPMed
MSTN	O14793	p.Asp271Glu	rs754970235	missense variant	-	NC_000002.12:g.190057573G>T	ExAC,gnomAD
MSTN	O14793	p.Asp273Val	rs377546143	missense variant	-	NC_000002.12:g.190057568T>A	ESP,ExAC,gnomAD
MSTN	O14793	p.Asp273Glu	rs1220544062	missense variant	-	NC_000002.12:g.190057567A>C	gnomAD
MSTN	O14793	p.Glu274Asp	rs573883915	missense variant	-	NC_000002.12:g.190057564C>G	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Glu274Lys	rs146162833	missense variant	-	NC_000002.12:g.190057566C>T	ESP,ExAC,gnomAD
MSTN	O14793	p.Thr277Ala	rs750136925	missense variant	-	NC_000002.12:g.190057557T>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Thr277Arg	rs1360536436	missense variant	-	NC_000002.12:g.190057556G>C	TOPMed,gnomAD
MSTN	O14793	p.Thr277Ile	rs1360536436	missense variant	-	NC_000002.12:g.190057556G>A	TOPMed,gnomAD
MSTN	O14793	p.Ser279Thr	rs1280683734	missense variant	-	NC_000002.12:g.190057551A>T	gnomAD
MSTN	O14793	p.Arg280Ter	rs1284451125	stop gained	-	NC_000002.12:g.190057548G>A	TOPMed
MSTN	O14793	p.Arg280Gln	rs767327429	missense variant	-	NC_000002.12:g.190057547C>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Cys282Tyr	COSM718811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057541C>T	NCI-TCGA Cosmic
MSTN	O14793	p.Arg283His	rs761528049	missense variant	-	NC_000002.12:g.190057538C>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Arg283Cys	rs965957357	missense variant	-	NC_000002.12:g.190057539G>A	TOPMed,gnomAD
MSTN	O14793	p.Pro285Arg	rs1317979592	missense variant	-	NC_000002.12:g.190057532G>C	TOPMed
MSTN	O14793	p.Pro285Ser	rs1351099849	missense variant	-	NC_000002.12:g.190057533G>A	gnomAD
MSTN	O14793	p.Asp289Glu	rs762492739	missense variant	-	NC_000002.12:g.190057519A>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Phe290Ser	rs1195776574	missense variant	-	NC_000002.12:g.190057517A>G	gnomAD
MSTN	O14793	p.Glu291Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.190057515C>A	NCI-TCGA
MSTN	O14793	p.Glu291Lys	rs1477987845	missense variant	-	NC_000002.12:g.190057515C>T	gnomAD
MSTN	O14793	p.Ala292Gly	rs139729351	missense variant	-	NC_000002.12:g.190057511G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Ala292Asp	rs139729351	missense variant	-	NC_000002.12:g.190057511G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.Phe293Leu	rs1197523986	missense variant	-	NC_000002.12:g.190057509A>G	gnomAD
MSTN	O14793	p.Gly294Ala	rs1266075720	missense variant	-	NC_000002.12:g.190057505C>G	gnomAD
MSTN	O14793	p.Gly294Glu	rs1266075720	missense variant	-	NC_000002.12:g.190057505C>T	gnomAD
MSTN	O14793	p.Asp296Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190057500C>T	NCI-TCGA
MSTN	O14793	p.Asp296Glu	rs771302281	missense variant	-	NC_000002.12:g.190057498A>T	ExAC,gnomAD
MSTN	O14793	p.Ala300Thr	COSM4703473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057488C>T	NCI-TCGA Cosmic
MSTN	O14793	p.Lys302Arg	rs1180323695	missense variant	-	NC_000002.12:g.190057481T>C	TOPMed
MSTN	O14793	p.Arg303Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190057478C>A	NCI-TCGA
MSTN	O14793	p.Lys305Glu	rs772317945	missense variant	-	NC_000002.12:g.190057473T>C	ExAC,gnomAD
MSTN	O14793	p.Lys305Asn	rs770893080	missense variant	-	NC_000002.12:g.190057471C>G	gnomAD
MSTN	O14793	p.Lys305Thr	rs1222094986	missense variant	-	NC_000002.12:g.190057472T>G	gnomAD
MSTN	O14793	p.Ala306Thr	COSM3990925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057470C>T	NCI-TCGA Cosmic
MSTN	O14793	p.Asn307Ser	rs748362537	missense variant	-	NC_000002.12:g.190057466T>C	ExAC,gnomAD
MSTN	O14793	p.Tyr308His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190057464A>G	NCI-TCGA
MSTN	O14793	p.Gly311Glu	COSM3575574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057454C>T	NCI-TCGA Cosmic
MSTN	O14793	p.Glu312Asp	rs779053077	missense variant	-	NC_000002.12:g.190057450C>G	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Cys313Arg	rs1478172957	missense variant	-	NC_000002.12:g.190057449A>G	TOPMed
MSTN	O14793	p.Val316Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190057440C>G	NCI-TCGA
MSTN	O14793	p.Phe317Leu	rs749291285	missense variant	-	NC_000002.12:g.190057437A>G	ExAC,gnomAD
MSTN	O14793	p.Leu318Ter	rs780064368	stop gained	-	NC_000002.12:g.190057433A>T	ExAC,gnomAD
MSTN	O14793	p.Lys320AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.190057426T>-	NCI-TCGA
MSTN	O14793	p.Tyr321IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.190057425_190057426insT	NCI-TCGA
MSTN	O14793	p.Pro322Leu	COSM26927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057421G>A	NCI-TCGA Cosmic
MSTN	O14793	p.Pro322Ser	COSM1691749	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057422G>A	NCI-TCGA Cosmic
MSTN	O14793	p.Val327Ile	rs149366335	missense variant	-	NC_000002.12:g.190057407C>T	ESP,ExAC,TOPMed,gnomAD
MSTN	O14793	p.His328Asn	rs781131536	missense variant	-	NC_000002.12:g.190057404G>T	ExAC,gnomAD
MSTN	O14793	p.Asn331Lys	rs1212883493	missense variant	-	NC_000002.12:g.190057393G>T	TOPMed,gnomAD
MSTN	O14793	p.Asn331Tyr	rs1335189462	missense variant	-	NC_000002.12:g.190057395T>A	TOPMed
MSTN	O14793	p.Pro332Leu	rs757027065	missense variant	-	NC_000002.12:g.190057391G>A	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Arg333Ser	rs1479658661	missense variant	-	NC_000002.12:g.190057387T>G	gnomAD
MSTN	O14793	p.Ala336Gly	COSM4918707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057379G>C	NCI-TCGA Cosmic
MSTN	O14793	p.Gly337Asp	rs1292267841	missense variant	-	NC_000002.12:g.190057376C>T	TOPMed
MSTN	O14793	p.Pro338Arg	rs751268573	missense variant	-	NC_000002.12:g.190057373G>C	ExAC,gnomAD
MSTN	O14793	p.Cys340Arg	rs777966647	missense variant	-	NC_000002.12:g.190057368A>G	TOPMed
MSTN	O14793	p.Lys344Asn	COSM1404092	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057354C>A	NCI-TCGA Cosmic
MSTN	O14793	p.Met345Ile	COSM1014083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057351C>T	NCI-TCGA Cosmic
MSTN	O14793	p.Met345Leu	rs762554695	missense variant	-	NC_000002.12:g.190057353T>G	ExAC,gnomAD
MSTN	O14793	p.Ile348Thr	rs34780010	missense variant	-	NC_000002.12:g.190057343A>G	-
MSTN	O14793	p.Ile348Thr	rs34780010	missense variant	-	NC_000002.12:g.190057343A>G	UniProt,dbSNP
MSTN	O14793	p.Ile348Thr	VAR_052575	missense variant	-	NC_000002.12:g.190057343A>G	UniProt
MSTN	O14793	p.Met350Lys	rs1338594010	missense variant	-	NC_000002.12:g.190057337A>T	TOPMed
MSTN	O14793	p.Tyr352Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190057331T>C	NCI-TCGA
MSTN	O14793	p.Asn354His	rs150185464	missense variant	-	NC_000002.12:g.190057326T>G	ESP,ExAC,gnomAD
MSTN	O14793	p.Asn354Asp	rs150185464	missense variant	-	NC_000002.12:g.190057326T>C	ESP,ExAC,gnomAD
MSTN	O14793	p.Glu357Ter	COSM1014082	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.190057317C>A	NCI-TCGA Cosmic
MSTN	O14793	p.Gln358Lys	rs773630476	missense variant	-	NC_000002.12:g.190057314G>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Gln358Glu	rs773630476	missense variant	-	NC_000002.12:g.190057314G>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Ile359Met	rs1440461499	missense variant	-	NC_000002.12:g.190057309T>C	TOPMed
MSTN	O14793	p.Tyr361Phe	rs772442097	missense variant	-	NC_000002.12:g.190057304T>A	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Gly362Glu	rs375423318	missense variant	-	NC_000002.12:g.190057301C>T	ESP,TOPMed
MSTN	O14793	p.Pro365Ser	COSM232820	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057293G>A	NCI-TCGA Cosmic
MSTN	O14793	p.Pro365Thr	rs762101359	missense variant	-	NC_000002.12:g.190057293G>T	ExAC,gnomAD
MSTN	O14793	p.Ala366Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190057290C>A	NCI-TCGA
MSTN	O14793	p.Ala366Val	rs774592036	missense variant	-	NC_000002.12:g.190057289G>A	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Ala366Glu	rs774592036	missense variant	-	NC_000002.12:g.190057289G>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Val368Ile	COSM3575571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.190057284C>T	NCI-TCGA Cosmic
MSTN	O14793	p.Val368Leu	rs1475410773	missense variant	-	NC_000002.12:g.190057284C>G	TOPMed
MSTN	O14793	p.Val369Ile	rs1467336063	missense variant	-	NC_000002.12:g.190057281C>T	gnomAD
MSTN	O14793	p.Asp370His	rs909405834	missense variant	-	NC_000002.12:g.190057278C>G	gnomAD
MSTN	O14793	p.Arg371Gly	rs16823988	missense variant	-	NC_000002.12:g.190057275G>C	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Arg371Leu	rs772177439	missense variant	-	NC_000002.12:g.190057274C>A	TOPMed,gnomAD
MSTN	O14793	p.Arg371His	rs772177439	missense variant	-	NC_000002.12:g.190057274C>T	TOPMed,gnomAD
MSTN	O14793	p.Arg371Cys	rs16823988	missense variant	-	NC_000002.12:g.190057275G>A	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Gly373Arg	rs779966989	missense variant	-	NC_000002.12:g.190057269C>T	ExAC,TOPMed,gnomAD
MSTN	O14793	p.Cys374Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.190057266A>G	NCI-TCGA
PHYH	O14832	p.Glu2Gly	rs1040127062	missense variant	-	NC_000010.11:g.13300038T>C	TOPMed,gnomAD
PHYH	O14832	p.Glu2Val	rs1040127062	missense variant	-	NC_000010.11:g.13300038T>A	TOPMed,gnomAD
PHYH	O14832	p.Glu2Asp	rs1156869662	missense variant	-	NC_000010.11:g.13300037C>A	TOPMed,gnomAD
PHYH	O14832	p.Gln3Arg	rs1452997131	missense variant	-	NC_000010.11:g.13300035T>C	gnomAD
PHYH	O14832	p.Ala6Thr	rs1364275922	missense variant	-	NC_000010.11:g.13300027C>T	gnomAD
PHYH	O14832	p.Ala8Ser	rs1183779938	missense variant	-	NC_000010.11:g.13300021C>A	gnomAD
PHYH	O14832	p.Arg9Gly	rs1196837590	missense variant	-	NC_000010.11:g.13300018G>C	TOPMed
PHYH	O14832	p.Leu10Gln	rs1438079670	missense variant	-	NC_000010.11:g.13300014A>T	TOPMed
PHYH	O14832	p.Val13Phe	rs1361950127	missense variant	-	NC_000010.11:g.13300006C>A	gnomAD
PHYH	O14832	p.Val13Asp	rs1220122195	missense variant	-	NC_000010.11:g.13300005A>T	TOPMed
PHYH	O14832	p.Arg19Cys	rs945890557	missense variant	-	NC_000010.11:g.13299988G>A	TOPMed,gnomAD
PHYH	O14832	p.Arg19Gly	rs945890557	missense variant	-	NC_000010.11:g.13299988G>C	TOPMed,gnomAD
PHYH	O14832	p.Pro20Leu	rs913080422	missense variant	-	NC_000010.11:g.13299984G>A	TOPMed
PHYH	O14832	p.Ser21Trp	rs1199703535	missense variant	-	NC_000010.11:g.13299981G>C	TOPMed,gnomAD
PHYH	O14832	p.Gly23Glu	rs1260436434	missense variant	-	NC_000010.11:g.13299975C>T	TOPMed,gnomAD
PHYH	O14832	p.Gly23Arg	rs750212437	missense variant	-	NC_000010.11:g.13299976C>G	ExAC,gnomAD
PHYH	O14832	p.Ala24Thr	rs781426377	missense variant	-	NC_000010.11:g.13299973C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ala24Ser	rs781426377	missense variant	-	NC_000010.11:g.13299973C>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Val25Ile	rs1261804897	missense variant	-	NC_000010.11:g.13299970C>T	gnomAD
PHYH	O14832	p.His28Arg	rs778011598	missense variant	-	NC_000010.11:g.13298238T>C	ExAC,gnomAD
PHYH	O14832	p.His28Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13298238T>A	NCI-TCGA
PHYH	O14832	p.Pro29Ser	rs28938169	missense variant	-	NC_000010.11:g.13298236G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Pro29Ser	RCV000306854	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13298236G>A	ClinVar
PHYH	O14832	p.Ser31Leu	rs752742972	missense variant	-	NC_000010.11:g.13298229G>A	ExAC,gnomAD
PHYH	O14832	p.Ser31Ter	rs752742972	stop gained	-	NC_000010.11:g.13298229G>T	ExAC,gnomAD
PHYH	O14832	p.Ile34Thr	rs1193207427	missense variant	-	NC_000010.11:g.13298220A>G	TOPMed
PHYH	O14832	p.Ala37Asp	rs1014615805	missense variant	-	NC_000010.11:g.13298211G>T	gnomAD
PHYH	O14832	p.Ser38Gly	rs1272031469	missense variant	-	NC_000010.11:g.13298209T>C	gnomAD
PHYH	O14832	p.Ser38Asn	rs1425939786	missense variant	-	NC_000010.11:g.13298208C>T	TOPMed
PHYH	O14832	p.Gln42Ter	rs759970314	stop gained	-	NC_000010.11:g.13298197G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gln42Arg	rs371465545	missense variant	-	NC_000010.11:g.13298196T>C	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gln42Glu	rs759970314	missense variant	-	NC_000010.11:g.13298197G>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gln43Ter	rs1454438150	stop gained	-	NC_000010.11:g.13298194G>A	gnomAD
PHYH	O14832	p.Phe44Leu	rs1397853687	missense variant	-	NC_000010.11:g.13298189G>T	gnomAD
PHYH	O14832	p.Gln45Ter	rs1384315216	stop gained	-	NC_000010.11:g.13298188G>A	TOPMed,gnomAD
PHYH	O14832	p.Tyr46Cys	rs141952441	missense variant	-	NC_000010.11:g.13295604T>C	ESP,TOPMed
PHYH	O14832	p.Thr47Pro	rs1234884054	missense variant	-	NC_000010.11:g.13295602T>G	gnomAD
PHYH	O14832	p.Thr47Ile	rs754281074	missense variant	-	NC_000010.11:g.13295601G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asn50Ser	rs1269727332	missense variant	-	NC_000010.11:g.13295592T>C	gnomAD
PHYH	O14832	p.Asn50Asp	rs767030794	missense variant	-	NC_000010.11:g.13295593T>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asn51His	rs756504018	missense variant	-	NC_000010.11:g.13295590T>G	ExAC,gnomAD
PHYH	O14832	p.Val52Ile	rs1283450349	missense variant	-	NC_000010.11:g.13295587C>T	TOPMed,gnomAD
PHYH	O14832	p.Thr54Asn	rs775279867	missense variant	-	NC_000010.11:g.13295580G>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Thr54Ile	rs775279867	missense variant	-	NC_000010.11:g.13295580G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Leu55Ter	RCV000008021	frameshift	Refsum disease, adult, 1	NC_000010.11:g.13295577del	ClinVar
PHYH	O14832	p.Arg58Ile	rs764637574	missense variant	-	NC_000010.11:g.13295568C>A	ExAC,gnomAD
PHYH	O14832	p.Lys59Thr	rs886046831	missense variant	-	NC_000010.11:g.13295565T>G	-
PHYH	O14832	p.Lys59Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13295564T>G	NCI-TCGA
PHYH	O14832	p.Lys59Thr	RCV000386294	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13295565T>G	ClinVar
PHYH	O14832	p.Phe60Leu	rs1340452968	missense variant	-	NC_000010.11:g.13295563A>G	gnomAD
PHYH	O14832	p.Phe60Cys	rs759133541	missense variant	-	NC_000010.11:g.13295562A>C	ExAC,gnomAD
PHYH	O14832	p.Phe60Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13295562A>G	NCI-TCGA
PHYH	O14832	p.Gly65Arg	rs1344010115	missense variant	-	NC_000010.11:g.13295548C>T	gnomAD
PHYH	O14832	p.Val68Leu	COSM6128634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13295539C>G	NCI-TCGA Cosmic
PHYH	O14832	p.Val68Glu	rs746748064	missense variant	-	NC_000010.11:g.13295538A>T	ExAC,gnomAD
PHYH	O14832	p.Ile69Thr	rs143820757	missense variant	-	NC_000010.11:g.13295535A>G	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ile69Thr	RCV000153696	missense variant	-	NC_000010.11:g.13295535A>G	ClinVar
PHYH	O14832	p.Leu72Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13295527G>T	NCI-TCGA
PHYH	O14832	p.Leu72Pro	COSM4012730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13295526A>G	NCI-TCGA Cosmic
PHYH	O14832	p.Leu72Phe	rs771973307	missense variant	-	NC_000010.11:g.13295527G>A	ExAC,gnomAD
PHYH	O14832	p.Val73Ala	rs1480253198	missense variant	-	NC_000010.11:g.13295523A>G	gnomAD
PHYH	O14832	p.Pro74Thr	rs1430210913	missense variant	-	NC_000010.11:g.13295521G>T	gnomAD
PHYH	O14832	p.Ala76Val	rs141855372	missense variant	-	NC_000010.11:g.13295514G>A	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asp77Asn	rs180913758	missense variant	-	NC_000010.11:g.13295512C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gln79Ter	rs1554785113	stop gained	-	NC_000010.11:g.13295506G>A	-
PHYH	O14832	p.Gln79Ter	RCV000592550	nonsense	-	NC_000010.11:g.13295506G>A	ClinVar
PHYH	O14832	p.Arg80His	rs756698271	missense variant	-	NC_000010.11:g.13295502C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg80Cys	rs369205198	missense variant	-	NC_000010.11:g.13295503G>A	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg82Gly	rs145404396	missense variant	-	NC_000010.11:g.13295497G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg82Trp	rs145404396	missense variant	-	NC_000010.11:g.13295497G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg82Gln	rs886046830	missense variant	-	NC_000010.11:g.13295496C>T	-
PHYH	O14832	p.Arg82Gln	RCV000352671	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13295496C>T	ClinVar
PHYH	O14832	p.Arg82Gly	RCV000755126	missense variant	Nonsyndromic cleft lip palate	NC_000010.11:g.13295497G>C	ClinVar
PHYH	O14832	p.Asn83Tyr	VAR_018619	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
PHYH	O14832	p.Glu84Lys	rs1171283470	missense variant	-	NC_000010.11:g.13294592C>T	gnomAD
PHYH	O14832	p.Phe85Ser	rs1431689348	missense variant	-	NC_000010.11:g.13294588A>G	gnomAD
PHYH	O14832	p.Ile88AsnPheSerTerUnkUnk	COSM5218172	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.13294579_13294580insT	NCI-TCGA Cosmic
PHYH	O14832	p.Cys89Phe	rs1218295820	missense variant	-	NC_000010.11:g.13294576C>A	TOPMed
PHYH	O14832	p.Lys91Arg	rs1182917798	missense variant	-	NC_000010.11:g.13294570T>C	gnomAD
PHYH	O14832	p.Glu92Val	rs781746206	missense variant	-	NC_000010.11:g.13294567T>A	ExAC,gnomAD
PHYH	O14832	p.Pro95Ser	rs751977380	missense variant	-	NC_000010.11:g.13294559G>A	ExAC
PHYH	O14832	p.Gly97Glu	rs375508574	missense variant	-	NC_000010.11:g.13294552C>T	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Thr99Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13294547T>G	NCI-TCGA
PHYH	O14832	p.Val100Leu	rs753555104	missense variant	-	NC_000010.11:g.13294544C>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Val100Ile	rs753555104	missense variant	-	NC_000010.11:g.13294544C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Met101Ile	rs765864318	missense variant	-	NC_000010.11:g.13294539C>T	ExAC,gnomAD
PHYH	O14832	p.Met101Ile	rs765864318	missense variant	-	NC_000010.11:g.13294539C>A	ExAC,gnomAD
PHYH	O14832	p.Arg102Lys	rs1290322799	missense variant	-	NC_000010.11:g.13294537C>T	TOPMed,gnomAD
PHYH	O14832	p.Arg102Thr	rs1290322799	missense variant	-	NC_000010.11:g.13294537C>G	TOPMed,gnomAD
PHYH	O14832	p.Val104Ala	rs1360740831	missense variant	-	NC_000010.11:g.13294531A>G	gnomAD
PHYH	O14832	p.Ile106Leu	rs1460092273	missense variant	-	NC_000010.11:g.13294526T>G	gnomAD
PHYH	O14832	p.Ile106Thr	rs750331730	missense variant	-	NC_000010.11:g.13294525A>G	ExAC,gnomAD
PHYH	O14832	p.Ser107Leu	rs1298954728	missense variant	-	NC_000010.11:g.13294522G>A	TOPMed,gnomAD
PHYH	O14832	p.Glu110Lys	rs768690285	missense variant	-	NC_000010.11:g.13294514C>T	ExAC,gnomAD
PHYH	O14832	p.Ala112Pro	rs775912561	missense variant	-	NC_000010.11:g.13294508C>G	ExAC,gnomAD
PHYH	O14832	p.Ala112Val	rs1156732460	missense variant	-	NC_000010.11:g.13294507G>A	gnomAD
PHYH	O14832	p.Pro113Leu	rs745983440	missense variant	-	NC_000010.11:g.13294504G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ser114Asn	rs781504804	missense variant	-	NC_000010.11:g.13294501C>T	ExAC,gnomAD
PHYH	O14832	p.Ser114Arg	rs771484754	missense variant	-	NC_000010.11:g.13294500A>C	ExAC,gnomAD
PHYH	O14832	p.Glu115Lys	rs747271385	missense variant	-	NC_000010.11:g.13294499C>T	ExAC,gnomAD
PHYH	O14832	p.Met117Leu	rs778195858	missense variant	-	NC_000010.11:g.13294493T>A	ExAC,gnomAD
PHYH	O14832	p.Met117Ile	COSM4012729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13294491C>A	NCI-TCGA Cosmic
PHYH	O14832	p.Ile118Met	rs779724199	missense variant	-	NC_000010.11:g.13294488G>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ile118Thr	rs1032242814	missense variant	-	NC_000010.11:g.13294489A>G	TOPMed
PHYH	O14832	p.Ile118Phe	rs758824248	missense variant	-	NC_000010.11:g.13294490T>A	ExAC,gnomAD
PHYH	O14832	p.Ile118Met	RCV000494522	missense variant	-	NC_000010.11:g.13294488G>C	ClinVar
PHYH	O14832	p.Thr119Met	rs34571629	missense variant	-	NC_000010.11:g.13294486G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Thr119Met	RCV000319288	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13294486G>A	ClinVar
PHYH	O14832	p.Lys120Asn	rs373346799	missense variant	-	NC_000010.11:g.13294482C>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Val121Ile	rs563490832	missense variant	-	NC_000010.11:g.13294481C>T	1000Genomes
PHYH	O14832	p.Phe124Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13294472A>T	NCI-TCGA
PHYH	O14832	p.Glu126Gln	rs150001161	missense variant	-	NC_000010.11:g.13294466C>G	ESP,TOPMed,gnomAD
PHYH	O14832	p.Asp127Gly	rs1272687602	missense variant	-	NC_000010.11:g.13294462T>C	TOPMed
PHYH	O14832	p.Glu129Lys	rs761810966	missense variant	-	NC_000010.11:g.13294457C>T	ExAC,gnomAD
PHYH	O14832	p.Leu130Phe	rs751515293	missense variant	-	NC_000010.11:g.13294454G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Leu130Ile	rs751515293	missense variant	-	NC_000010.11:g.13294454G>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Phe131Val	rs1452889366	missense variant	-	NC_000010.11:g.13294451A>C	TOPMed,gnomAD
PHYH	O14832	p.Tyr133Ter	COSM4012728	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.13294443G>T	NCI-TCGA Cosmic
PHYH	O14832	p.Tyr133Ser	rs1161050068	missense variant	-	NC_000010.11:g.13294444T>G	gnomAD
PHYH	O14832	p.Tyr133His	rs367762012	missense variant	-	NC_000010.11:g.13294445A>G	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Cys134Arg	rs775822544	missense variant	-	NC_000010.11:g.13294442A>G	ExAC,gnomAD
PHYH	O14832	p.Thr135Ser	rs770170910	missense variant	-	NC_000010.11:g.13294438G>C	ExAC,gnomAD
PHYH	O14832	p.Leu136Val	rs1250910502	missense variant	-	NC_000010.11:g.13294436G>C	TOPMed
PHYH	O14832	p.Pro137Leu	COSM3435748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13294432G>A	NCI-TCGA Cosmic
PHYH	O14832	p.Glu138Lys	rs938466163	missense variant	-	NC_000010.11:g.13294430C>T	gnomAD
PHYH	O14832	p.Glu138ArgPheSerTerUnkUnk	COSM1346840	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.13294430_13294431insG	NCI-TCGA Cosmic
PHYH	O14832	p.Lys141Glu	rs773734063	missense variant	-	NC_000010.11:g.13291906T>C	ExAC
PHYH	O14832	p.Glu144Gly	rs772592954	missense variant	-	NC_000010.11:g.13291896T>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Thr147Ile	rs748450500	missense variant	-	NC_000010.11:g.13291887G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Thr147Ala	rs1450273769	missense variant	-	NC_000010.11:g.13291888T>C	gnomAD
PHYH	O14832	p.Gly148Ala	rs1392704631	missense variant	-	NC_000010.11:g.13291884C>G	gnomAD
PHYH	O14832	p.Asn150Ser	rs1337094816	missense variant	-	NC_000010.11:g.13291878T>C	gnomAD
PHYH	O14832	p.Met152Val	rs1415852980	missense variant	-	NC_000010.11:g.13291873T>C	TOPMed,gnomAD
PHYH	O14832	p.Ala153Thr	rs774698527	missense variant	-	NC_000010.11:g.13291870C>T	ExAC,gnomAD
PHYH	O14832	p.Met154Val	rs959579723	missense variant	-	NC_000010.11:g.13291867T>C	TOPMed
PHYH	O14832	p.His155Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13291864G>A	NCI-TCGA
PHYH	O14832	p.Thr156Ile	rs1440122060	missense variant	-	NC_000010.11:g.13291860G>A	TOPMed
PHYH	O14832	p.Met157Ile	rs769073461	missense variant	-	NC_000010.11:g.13291856C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ile159Thr	rs150982538	missense variant	-	NC_000010.11:g.13291851A>G	ESP,ExAC,gnomAD
PHYH	O14832	p.Pro163Ser	rs374704226	missense variant	-	NC_000010.11:g.13291840G>A	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Lys167Glu	rs1313171172	missense variant	-	NC_000010.11:g.13288539T>C	gnomAD
PHYH	O14832	p.Thr169Met	rs1002598201	missense variant	-	NC_000010.11:g.13288532G>A	TOPMed
PHYH	O14832	p.Arg171Cys	rs1247299635	missense variant	-	NC_000010.11:g.13288527G>A	TOPMed,gnomAD
PHYH	O14832	p.Arg171Ser	rs1247299635	missense variant	-	NC_000010.11:g.13288527G>T	TOPMed,gnomAD
PHYH	O14832	p.Arg171Pro	rs752028596	missense variant	-	NC_000010.11:g.13288526C>G	ExAC,gnomAD
PHYH	O14832	p.Arg171His	rs752028596	missense variant	-	NC_000010.11:g.13288526C>T	ExAC,gnomAD
PHYH	O14832	p.Pro173Ser	VAR_017483	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
PHYH	O14832	p.His175Gln	rs1430438246	missense variant	-	NC_000010.11:g.13288513G>T	TOPMed
PHYH	O14832	p.His175Arg	VAR_018631	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
PHYH	O14832	p.Gln176Arg	rs775730332	missense variant	-	NC_000010.11:g.13288511T>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gln176Lys	rs28939672	missense variant	Refsum disease (RD)	NC_000010.11:g.13288512G>T	UniProt,dbSNP
PHYH	O14832	p.Gln176Lys	VAR_017484	missense variant	Refsum disease (RD)	NC_000010.11:g.13288512G>T	UniProt
PHYH	O14832	p.Gln176Lys	rs28939672	missense variant	-	NC_000010.11:g.13288512G>T	TOPMed
PHYH	O14832	p.Gln176Ter	rs28939672	stop gained	-	NC_000010.11:g.13288512G>A	TOPMed
PHYH	O14832	p.Gln176Lys	RCV000008024	missense variant	Refsum disease, adult, 1	NC_000010.11:g.13288512G>T	ClinVar
PHYH	O14832	p.Asp177Gly	rs770262329	missense variant	-	NC_000010.11:g.13288508T>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asp177Gly	rs770262329	missense variant	Refsum disease (RD)	NC_000010.11:g.13288508T>C	UniProt,dbSNP
PHYH	O14832	p.Asp177Gly	VAR_017485	missense variant	Refsum disease (RD)	NC_000010.11:g.13288508T>C	UniProt
PHYH	O14832	p.His179Asn	rs1419027168	missense variant	-	NC_000010.11:g.13288503G>T	gnomAD
PHYH	O14832	p.Tyr180Ser	rs1280965525	missense variant	-	NC_000010.11:g.13288499T>G	gnomAD
PHYH	O14832	p.Pro182Ala	rs773050136	missense variant	-	NC_000010.11:g.13288494G>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Pro182Ser	rs773050136	missense variant	-	NC_000010.11:g.13288494G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Pro182Leu	rs771679396	missense variant	-	NC_000010.11:g.13288493G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Phe183Ser	rs139392108	missense variant	-	NC_000010.11:g.13288490A>G	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Pro185Thr	rs768495897	missense variant	-	NC_000010.11:g.13288485G>T	ExAC,gnomAD
PHYH	O14832	p.Ser186Arg	rs201383447	missense variant	-	NC_000010.11:g.13288480G>T	ExAC,gnomAD
PHYH	O14832	p.Ser186Asn	rs749048954	missense variant	-	NC_000010.11:g.13288481C>T	ExAC,gnomAD
PHYH	O14832	p.Asp187Asn	rs755990885	missense variant	-	NC_000010.11:g.13288479C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ile189Met	rs563392018	missense variant	-	NC_000010.11:g.13288471G>C	1000Genomes,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ile189Phe	rs1227427780	missense variant	-	NC_000010.11:g.13288473T>A	TOPMed
PHYH	O14832	p.Val190Ile	rs146190978	missense variant	-	NC_000010.11:g.13288470C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Cys191Trp	rs1054747084	missense variant	-	NC_000010.11:g.13288465G>C	TOPMed,gnomAD
PHYH	O14832	p.Ala192Ser	rs751660253	missense variant	-	NC_000010.11:g.13288464C>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ala192Thr	rs751660253	missense variant	-	NC_000010.11:g.13288464C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ala192Thr	RCV000377458	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288464C>T	ClinVar
PHYH	O14832	p.Ala192Thr	RCV000483319	missense variant	-	NC_000010.11:g.13288464C>T	ClinVar
PHYH	O14832	p.Ala192insAlaAla	VAR_012980	duplication	Refsum disease (RD) [MIM:266500]	-	UniProt
PHYH	O14832	p.Trp193Ter	rs1448778830	stop gained	-	NC_000010.11:g.13288460C>T	gnomAD
PHYH	O14832	p.Trp193Arg	VAR_017486	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
PHYH	O14832	p.Thr194Lys	rs141554572	missense variant	-	NC_000010.11:g.13288457G>T	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Thr194Met	rs141554572	missense variant	-	NC_000010.11:g.13288457G>A	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Thr194Met	RCV000320474	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288457G>A	ClinVar
PHYH	O14832	p.Ala195Val	rs765498995	missense variant	-	NC_000010.11:g.13288454G>A	ExAC,gnomAD
PHYH	O14832	p.Met196Val	rs760020856	missense variant	-	NC_000010.11:g.13288452T>C	ExAC,gnomAD
PHYH	O14832	p.Met196Leu	rs760020856	missense variant	-	NC_000010.11:g.13288452T>A	ExAC,gnomAD
PHYH	O14832	p.Glu197Ala	rs772962267	missense variant	-	NC_000010.11:g.13288448T>G	ExAC,gnomAD
PHYH	O14832	p.Glu197Lys	rs200311519	missense variant	-	NC_000010.11:g.13288449C>T	gnomAD
PHYH	O14832	p.Glu197Gln	VAR_017487	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
PHYH	O14832	p.His198Asn	rs1212274264	missense variant	-	NC_000010.11:g.13288446G>T	gnomAD
PHYH	O14832	p.Ile199Met	rs1407156746	missense variant	-	NC_000010.11:g.13288441G>C	TOPMed
PHYH	O14832	p.Ile199Phe	VAR_017488	Missense	Refsum disease (RD) [MIM:266500]	-	UniProt
PHYH	O14832	p.Ser200Ile	rs148602565	missense variant	-	NC_000010.11:g.13288439C>A	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ser200Arg	COSM683983	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13288438G>T	NCI-TCGA Cosmic
PHYH	O14832	p.Ser200Asn	rs148602565	missense variant	-	NC_000010.11:g.13288439C>T	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ser200Thr	rs148602565	missense variant	-	NC_000010.11:g.13288439C>G	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg201Trp	rs143957922	missense variant	-	NC_000010.11:g.13288437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg201Leu	rs1436380043	missense variant	-	NC_000010.11:g.13288436C>A	TOPMed,gnomAD
PHYH	O14832	p.Arg201Pro	rs1436380043	missense variant	-	NC_000010.11:g.13288436C>G	TOPMed,gnomAD
PHYH	O14832	p.Arg201Gly	rs143957922	missense variant	-	NC_000010.11:g.13288437G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg201Gln	rs1436380043	missense variant	-	NC_000010.11:g.13288436C>T	TOPMed,gnomAD
PHYH	O14832	p.Arg201Gly	RCV000267540	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288437G>C	ClinVar
PHYH	O14832	p.Arg201Gly	RCV000487565	missense variant	-	NC_000010.11:g.13288437G>C	ClinVar
PHYH	O14832	p.Asn202Lys	rs201979258	missense variant	-	NC_000010.11:g.13288432G>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asn202Lys	RCV000359852	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288432G>T	ClinVar
PHYH	O14832	p.Asn202Lys	RCV000430932	missense variant	-	NC_000010.11:g.13288432G>T	ClinVar
PHYH	O14832	p.Asn203Lys	rs775543889	missense variant	-	NC_000010.11:g.13288429G>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gly204Ser	rs104894173	missense variant	-	NC_000010.11:g.13288428C>T	ExAC
PHYH	O14832	p.Gly204Ser	rs104894173	missense variant	Refsum disease (RD)	NC_000010.11:g.13288428C>T	UniProt,dbSNP
PHYH	O14832	p.Gly204Ser	VAR_017489	missense variant	Refsum disease (RD)	NC_000010.11:g.13288428C>T	UniProt
PHYH	O14832	p.Gly204Ser	RCV000008025	missense variant	Refsum disease, adult, 1	NC_000010.11:g.13288428C>T	ClinVar
PHYH	O14832	p.Cys205Tyr	rs373046465	missense variant	-	NC_000010.11:g.13288424C>T	ESP,ExAC,gnomAD
PHYH	O14832	p.Val207Ile	rs555663097	missense variant	-	NC_000010.11:g.13288419C>T	1000Genomes,ExAC,gnomAD
PHYH	O14832	p.Leu209Arg	rs1389557837	missense variant	-	NC_000010.11:g.13288412A>C	gnomAD
PHYH	O14832	p.Gly211Asp	rs747023529	missense variant	-	NC_000010.11:g.13288406C>T	ExAC,gnomAD
PHYH	O14832	p.His213Arg	rs758554958	missense variant	-	NC_000010.11:g.13288400T>C	ExAC,gnomAD
PHYH	O14832	p.Lys214Glu	rs753115080	missense variant	-	NC_000010.11:g.13288398T>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gly215Ser	rs7901902	missense variant	-	NC_000010.11:g.13288395C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gly215Ser	RCV000268787	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13288395C>T	ClinVar
PHYH	O14832	p.Leu217Val	rs200627042	missense variant	-	NC_000010.11:g.13288389G>C	1000Genomes,ExAC,TOPMed,gnomAD
PHYH	O14832	p.His220Tyr	rs767216891	missense variant	-	NC_000010.11:g.13288380G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.His220Tyr	rs767216891	missense variant	Refsum disease (RD)	NC_000010.11:g.13288380G>A	UniProt,dbSNP
PHYH	O14832	p.His220Tyr	VAR_017490	missense variant	Refsum disease (RD)	NC_000010.11:g.13288380G>A	UniProt
PHYH	O14832	p.His220Gln	rs774107404	missense variant	-	NC_000010.11:g.13288378G>T	ExAC,gnomAD
PHYH	O14832	p.Asp221Asn	rs763486532	missense variant	-	NC_000010.11:g.13288377C>T	ExAC,gnomAD
PHYH	O14832	p.Pro223Arg	rs1380248613	missense variant	-	NC_000010.11:g.13288370G>C	gnomAD
PHYH	O14832	p.Lys224Thr	rs997483861	missense variant	-	NC_000010.11:g.13288367T>G	TOPMed,gnomAD
PHYH	O14832	p.Lys224Arg	rs997483861	missense variant	-	NC_000010.11:g.13288367T>C	TOPMed,gnomAD
PHYH	O14832	p.Gly227Trp	rs201936962	missense variant	-	NC_000010.11:g.13283839C>A	1000Genomes,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gly227Ala	rs995220629	missense variant	-	NC_000010.11:g.13283838C>G	gnomAD
PHYH	O14832	p.Gly227Arg	rs201936962	missense variant	-	NC_000010.11:g.13283839C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gly227Arg	rs201936962	missense variant	-	NC_000010.11:g.13283839C>G	1000Genomes,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gly227Glu	rs995220629	missense variant	-	NC_000010.11:g.13283838C>T	gnomAD
PHYH	O14832	p.Gly228Ala	rs768919554	missense variant	-	NC_000010.11:g.13283835C>G	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gly228GluPheSerTerUnkUnk	COSM1346839	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.13283835C>-	NCI-TCGA Cosmic
PHYH	O14832	p.Gly228Arg	COSM3435745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13283836C>T	NCI-TCGA Cosmic
PHYH	O14832	p.Gly228Val	rs768919554	missense variant	-	NC_000010.11:g.13283835C>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Gly228Glu	rs768919554	missense variant	-	NC_000010.11:g.13283835C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Val229SerPheSerTerUnk	rs767403321	frameshift	-	NC_000010.11:g.13283834_13283835insC	NCI-TCGA
PHYH	O14832	p.Asn230Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13283828G>T	NCI-TCGA
PHYH	O14832	p.Lys231Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13283826T>G	NCI-TCGA
PHYH	O14832	p.Lys231Arg	rs749786269	missense variant	-	NC_000010.11:g.13283826T>C	ExAC,gnomAD
PHYH	O14832	p.Met232Thr	rs1223347540	missense variant	-	NC_000010.11:g.13283823A>G	gnomAD
PHYH	O14832	p.His234Tyr	rs780743090	missense variant	-	NC_000010.11:g.13283818G>A	ExAC,gnomAD
PHYH	O14832	p.Gly235Arg	rs750819521	missense variant	-	NC_000010.11:g.13283815C>T	ExAC,gnomAD
PHYH	O14832	p.Gly235Arg	RCV000778275	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13283815C>T	ClinVar
PHYH	O14832	p.Gly235Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13283815C>G	NCI-TCGA
PHYH	O14832	p.Gly235Val	COSM916258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13283814C>A	NCI-TCGA Cosmic
PHYH	O14832	p.Asp238Asn	rs1296265643	missense variant	-	NC_000010.11:g.13283806C>T	gnomAD
PHYH	O14832	p.Tyr239Cys	rs752334658	missense variant	-	NC_000010.11:g.13283802T>C	gnomAD
PHYH	O14832	p.Glu240Gly	rs947818030	missense variant	-	NC_000010.11:g.13283799T>C	TOPMed,gnomAD
PHYH	O14832	p.Glu240Lys	rs373512465	missense variant	-	NC_000010.11:g.13283800C>T	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Glu241Gly	rs764704942	missense variant	-	NC_000010.11:g.13283796T>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Glu241Lys	rs752358705	missense variant	-	NC_000010.11:g.13283797C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ala244Asp	rs759088006	missense variant	-	NC_000010.11:g.13283787G>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ala244Gly	rs759088006	missense variant	-	NC_000010.11:g.13283787G>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg245Gln	RCV000665931	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13283784C>T	ClinVar
PHYH	O14832	p.Arg245Gln	rs62619919	missense variant	-	NC_000010.11:g.13283784C>T	UniProt,dbSNP
PHYH	O14832	p.Arg245Gln	VAR_017491	missense variant	-	NC_000010.11:g.13283784C>T	UniProt
PHYH	O14832	p.Arg245Gln	rs62619919	missense variant	-	NC_000010.11:g.13283784C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg245Trp	rs753737115	missense variant	-	NC_000010.11:g.13283785G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Val246Gly	rs1435043757	missense variant	-	NC_000010.11:g.13283781A>C	gnomAD
PHYH	O14832	p.His247Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13283779G>C	NCI-TCGA
PHYH	O14832	p.His247Gln	COSM465443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13283777G>T	NCI-TCGA Cosmic
PHYH	O14832	p.His247Arg	rs951944471	missense variant	-	NC_000010.11:g.13283778T>C	TOPMed
PHYH	O14832	p.Val249Ala	rs760332267	missense variant	-	NC_000010.11:g.13283772A>G	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Lys252Arg	rs773067426	missense variant	-	NC_000010.11:g.13283763T>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asp254Asn	rs139329047	missense variant	-	NC_000010.11:g.13283758C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asp254Tyr	rs139329047	missense variant	-	NC_000010.11:g.13283758C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Thr255Ser	rs774759310	missense variant	-	NC_000010.11:g.13283754G>C	ExAC,gnomAD
PHYH	O14832	p.Thr255Ser	rs1349650193	missense variant	-	NC_000010.11:g.13283755T>A	gnomAD
PHYH	O14832	p.Val256Ter	RCV000190614	frameshift	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13283752_13283753del	ClinVar
PHYH	O14832	p.Phe257Ser	rs1211564430	missense variant	Refsum disease (RD)	NC_000010.11:g.13283748A>G	UniProt,dbSNP
PHYH	O14832	p.Phe257Ser	VAR_017492	missense variant	Refsum disease (RD)	NC_000010.11:g.13283748A>G	UniProt
PHYH	O14832	p.Phe257Ser	rs1211564430	missense variant	-	NC_000010.11:g.13283748A>G	gnomAD
PHYH	O14832	p.Phe257Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13283747G>T	NCI-TCGA
PHYH	O14832	p.His259Tyr	rs1251773744	missense variant	-	NC_000010.11:g.13283743G>A	gnomAD
PHYH	O14832	p.Leu261Ser	rs1324697721	missense variant	-	NC_000010.11:g.13283736A>G	gnomAD
PHYH	O14832	p.Leu261Met	rs1226629214	missense variant	-	NC_000010.11:g.13283737A>T	gnomAD
PHYH	O14832	p.His264Asn	COSM916256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13283728G>T	NCI-TCGA Cosmic
PHYH	O14832	p.Gly265Arg	rs978055214	missense variant	-	NC_000010.11:g.13283725C>T	TOPMed,gnomAD
PHYH	O14832	p.Ser266Cys	rs1324188528	missense variant	-	NC_000010.11:g.13283721G>C	TOPMed,gnomAD
PHYH	O14832	p.Gly267Arg	rs1449413938	missense variant	-	NC_000010.11:g.13283719C>G	gnomAD
PHYH	O14832	p.Asn269His	rs104894179	missense variant	Refsum disease (RD)	NC_000010.11:g.13283713T>G	UniProt,dbSNP
PHYH	O14832	p.Asn269His	VAR_005525	missense variant	Refsum disease (RD)	NC_000010.11:g.13283713T>G	UniProt
PHYH	O14832	p.Asn269His	rs104894179	missense variant	-	NC_000010.11:g.13283713T>G	-
PHYH	O14832	p.Asn269His	RCV000008022	missense variant	Refsum disease, adult, 1	NC_000010.11:g.13283713T>G	ClinVar
PHYH	O14832	p.Gln272His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13283702C>A	NCI-TCGA
PHYH	O14832	p.Gly273Val	rs770346220	missense variant	-	NC_000010.11:g.13283700C>A	ExAC,gnomAD
PHYH	O14832	p.Gly273Arg	rs780657110	missense variant	-	NC_000010.11:g.13283701C>T	ExAC,gnomAD
PHYH	O14832	p.Arg275Trp	rs104894178	missense variant	-	NC_000010.11:g.13283695G>A	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg275Trp	rs104894178	missense variant	Refsum disease (RD)	NC_000010.11:g.13283695G>A	UniProt,dbSNP
PHYH	O14832	p.Arg275Trp	VAR_005526	missense variant	Refsum disease (RD)	NC_000010.11:g.13283695G>A	UniProt
PHYH	O14832	p.Arg275Gln	rs104894174	missense variant	Refsum disease (RD)	NC_000010.11:g.13283694C>T	UniProt,dbSNP
PHYH	O14832	p.Arg275Gln	VAR_017493	missense variant	Refsum disease (RD)	NC_000010.11:g.13283694C>T	UniProt
PHYH	O14832	p.Arg275Gln	rs104894174	missense variant	-	NC_000010.11:g.13283694C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg275Trp	RCV000505105	missense variant	Retinitis pigmentosa (RP)	NC_000010.11:g.13283695G>A	ClinVar
PHYH	O14832	p.Arg275Gln	RCV000008026	missense variant	Refsum disease, adult, 1	NC_000010.11:g.13283694C>T	ClinVar
PHYH	O14832	p.Arg275Trp	RCV000665657	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13283695G>A	ClinVar
PHYH	O14832	p.Lys276Gln	rs1055015202	missense variant	-	NC_000010.11:g.13283692T>G	TOPMed,gnomAD
PHYH	O14832	p.Lys276Asn	rs1462384559	missense variant	-	NC_000010.11:g.13283690C>A	TOPMed
PHYH	O14832	p.Lys276Thr	rs1454371975	missense variant	-	NC_000010.11:g.13283691T>G	gnomAD
PHYH	O14832	p.Ala277Thr	rs1472419286	missense variant	-	NC_000010.11:g.13281110C>T	TOPMed
PHYH	O14832	p.Ala277Glu	rs1211539675	missense variant	-	NC_000010.11:g.13281109G>T	gnomAD
PHYH	O14832	p.Ser279Phe	rs947056017	missense variant	-	NC_000010.11:g.13281103G>A	TOPMed
PHYH	O14832	p.Cys280Tyr	rs1278291229	missense variant	-	NC_000010.11:g.13281100C>T	gnomAD
PHYH	O14832	p.Cys280Ter	RCV000443182	nonsense	-	NC_000010.11:g.13281099G>T	ClinVar
PHYH	O14832	p.Cys280Ter	rs1057520786	stop gained	-	NC_000010.11:g.13281099G>T	-
PHYH	O14832	p.Phe282Leu	rs373839944	missense variant	-	NC_000010.11:g.13281093G>T	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ala283Thr	rs771288405	missense variant	-	NC_000010.11:g.13281092C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asp286Tyr	rs538686726	missense variant	-	NC_000010.11:g.13281083C>A	1000Genomes,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asp286Asn	rs538686726	missense variant	-	NC_000010.11:g.13281083C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Cys287Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.13281078G>T	NCI-TCGA
PHYH	O14832	p.His288Gln	rs779606174	missense variant	-	NC_000010.11:g.13281075G>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ile290Thr	rs755633033	missense variant	-	NC_000010.11:g.13281070A>G	ExAC
PHYH	O14832	p.Asp291Asn	rs1414721463	missense variant	-	NC_000010.11:g.13281068C>T	gnomAD
PHYH	O14832	p.Val292Leu	rs1310532591	missense variant	-	NC_000010.11:g.13281065C>G	TOPMed,gnomAD
PHYH	O14832	p.Val292Met	rs1310532591	missense variant	-	NC_000010.11:g.13281065C>T	TOPMed,gnomAD
PHYH	O14832	p.Gly294Cys	rs767383443	missense variant	-	NC_000010.11:g.13281059C>A	ExAC,gnomAD
PHYH	O14832	p.Gly294Asp	rs1276333112	missense variant	-	NC_000010.11:g.13281058C>T	TOPMed
PHYH	O14832	p.Thr295Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13281055G>T	NCI-TCGA
PHYH	O14832	p.Gln297Arg	rs1157670907	missense variant	-	NC_000010.11:g.13281049T>C	gnomAD
PHYH	O14832	p.Gln297His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13281048T>G	NCI-TCGA
PHYH	O14832	p.Ile300Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13281040A>C	NCI-TCGA
PHYH	O14832	p.Ile300Val	rs1468367622	missense variant	-	NC_000010.11:g.13281041T>C	TOPMed,gnomAD
PHYH	O14832	p.Glu301Gln	rs751411612	missense variant	-	NC_000010.11:g.13281038C>G	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Glu301Lys	rs751411612	missense variant	-	NC_000010.11:g.13281038C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Glu303Ala	rs142542422	missense variant	-	NC_000010.11:g.13281031T>G	1000Genomes,ExAC,gnomAD
PHYH	O14832	p.Val304Ala	rs148073878	missense variant	-	NC_000010.11:g.13281028A>G	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Val305Ala	rs1470521507	missense variant	-	NC_000010.11:g.13281025A>G	TOPMed
PHYH	O14832	p.Val305Leu	rs1234838223	missense variant	-	NC_000010.11:g.13281026C>A	TOPMed
PHYH	O14832	p.Gly306Arg	rs775910876	missense variant	-	NC_000010.11:g.13281023C>G	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ile307Thr	rs534106740	missense variant	-	NC_000010.11:g.13281019A>G	gnomAD
PHYH	O14832	p.Ala308Thr	rs1283777687	missense variant	-	NC_000010.11:g.13281017C>T	gnomAD
PHYH	O14832	p.His309Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13281012A>T	NCI-TCGA
PHYH	O14832	p.Lys310Glu	rs765337089	missense variant	-	NC_000010.11:g.13281011T>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Phe311Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13281006G>T	NCI-TCGA
PHYH	O14832	p.Phe312Ser	rs1337328957	missense variant	-	NC_000010.11:g.13281004A>G	gnomAD
PHYH	O14832	p.Ala314Asp	rs777147459	missense variant	-	NC_000010.11:g.13280998G>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ala314Val	rs777147459	missense variant	-	NC_000010.11:g.13280998G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Glu315Ala	rs973937078	missense variant	-	NC_000010.11:g.13280995T>G	TOPMed
PHYH	O14832	p.Asn316Tyr	rs1330401531	missense variant	-	NC_000010.11:g.13280993T>A	TOPMed
PHYH	O14832	p.Ser317Asn	rs111664132	missense variant	-	NC_000010.11:g.13280989C>T	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Ser317Arg	rs773564976	missense variant	-	NC_000010.11:g.13280988G>T	ExAC,gnomAD
PHYH	O14832	p.Val318Met	rs148951882	missense variant	-	NC_000010.11:g.13280987C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Leu320Val	rs779617040	missense variant	-	NC_000010.11:g.13280981A>C	ExAC,gnomAD
PHYH	O14832	p.Lys321Glu	rs769303089	missense variant	-	NC_000010.11:g.13280978T>C	ExAC,gnomAD
PHYH	O14832	p.Lys321Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13280976C>A	NCI-TCGA
PHYH	O14832	p.Ile323Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13278349A>C	NCI-TCGA
PHYH	O14832	p.Met325Val	rs145020360	missense variant	-	NC_000010.11:g.13278345T>C	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Met325Leu	rs145020360	missense variant	-	NC_000010.11:g.13278345T>A	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Met325Thr	rs1193268888	missense variant	-	NC_000010.11:g.13278344A>G	gnomAD
PHYH	O14832	p.Arg327Gln	rs367851769	missense variant	-	NC_000010.11:g.13278338C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg327Leu	rs367851769	missense variant	-	NC_000010.11:g.13278338C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg327Ter	rs546257524	stop gained	-	NC_000010.11:g.13278339G>A	ExAC,gnomAD
PHYH	O14832	p.Arg327Gln	RCV000314971	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13278338C>T	ClinVar
PHYH	O14832	p.Ala328Thr	rs1205748629	missense variant	-	NC_000010.11:g.13278336C>T	gnomAD
PHYH	O14832	p.Arg329Leu	rs144085594	missense variant	-	NC_000010.11:g.13278332C>A	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg329Pro	rs144085594	missense variant	-	NC_000010.11:g.13278332C>G	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg329Ter	rs769348267	stop gained	-	NC_000010.11:g.13278333G>A	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg329Gln	rs144085594	missense variant	-	NC_000010.11:g.13278332C>T	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg329Gln	rs144085594	missense variant	-	NC_000010.11:g.13278332C>T	NCI-TCGA,NCI-TCGA Cosmic
PHYH	O14832	p.Leu330Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.13278329A>G	NCI-TCGA
PHYH	O14832	p.Leu330Val	rs961997409	missense variant	-	NC_000010.11:g.13278330G>C	TOPMed
PHYH	O14832	p.Val331Leu	rs200245065	missense variant	-	NC_000010.11:g.13278327C>G	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Val331Met	rs200245065	missense variant	-	NC_000010.11:g.13278327C>T	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Arg335Ile	rs777898707	missense variant	-	NC_000010.11:g.13278314C>A	ExAC,gnomAD
PHYH	O14832	p.Arg335Ile	rs777898707	missense variant	-	NC_000010.11:g.13278314C>A	NCI-TCGA,NCI-TCGA Cosmic
PHYH	O14832	p.Thr336Ile	rs1424234188	missense variant	-	NC_000010.11:g.13278311G>A	gnomAD
PHYH	O14832	p.Thr336Pro	rs1272487282	missense variant	-	NC_000010.11:g.13278312T>G	TOPMed
PHYH	O14832	p.Asn337Lys	rs140326632	missense variant	-	NC_000010.11:g.13278307A>T	ESP,ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asn337Ser	rs1269704659	missense variant	-	NC_000010.11:g.13278308T>C	TOPMed
PHYH	O14832	p.Asn337Asp	rs758218321	missense variant	-	NC_000010.11:g.13278309T>C	ExAC,TOPMed,gnomAD
PHYH	O14832	p.Asn337Asp	RCV000591045	missense variant	-	NC_000010.11:g.13278309T>C	ClinVar
PHYH	O14832	p.Asn337Asp	RCV000401804	missense variant	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13278309T>C	ClinVar
PHYH	O14832	p.Leu338His	RCV000513200	insertion	-	NC_000010.11:g.13278306_13278308dup	ClinVar
PHYH	O14832	p.Leu338His	RCV000755124	insertion	Nonsyndromic cleft lip palate	NC_000010.11:g.13278306_13278308dup	ClinVar
PHYH	O14832	p.Leu338Val	COSM427258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.13278306G>C	NCI-TCGA Cosmic
PHYH	O14832	p.Leu338His	RCV000625407	insertion	Phytanic acid storage disease (RDPA)	NC_000010.11:g.13278306_13278308dup	ClinVar
IRF6	O14896	p.Ala2Pro	rs1461016620	missense variant	-	NC_000001.11:g.209801410C>G	gnomAD
IRF6	O14896	p.Ala2Val	rs28942093	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801409G>A	UniProt,dbSNP
IRF6	O14896	p.Ala2Val	VAR_014961	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801409G>A	UniProt
IRF6	O14896	p.Ala2Val	rs28942093	missense variant	-	NC_000001.11:g.209801409G>A	-
IRF6	O14896	p.Ala2Val	RCV000003585	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801409G>A	ClinVar
IRF6	O14896	p.His4Tyr	rs757558481	missense variant	-	NC_000001.11:g.209801404G>A	ExAC,gnomAD
IRF6	O14896	p.Pro5Leu	rs1287814588	missense variant	-	NC_000001.11:g.209801400G>A	TOPMed
IRF6	O14896	p.Arg6Cys	rs28942094	missense variant	-	NC_000001.11:g.209801398G>A	-
IRF6	O14896	p.Arg6Cys	rs28942094	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801398G>A	UniProt,dbSNP
IRF6	O14896	p.Arg6Cys	VAR_030046	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801398G>A	UniProt
IRF6	O14896	p.Arg6Cys	RCV000413551	missense variant	-	NC_000001.11:g.209801398G>A	ClinVar
IRF6	O14896	p.Arg6His	rs751967341	missense variant	-	NC_000001.11:g.209801397C>T	ExAC,gnomAD
IRF6	O14896	p.Arg7Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209801394C>G	NCI-TCGA
IRF6	O14896	p.Val8Asp	COSM3789435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801391A>T	NCI-TCGA Cosmic
IRF6	O14896	p.Arg9Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209801388C>G	NCI-TCGA
IRF6	O14896	p.Arg9Trp	RCV000590928	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801389G>A	ClinVar
IRF6	O14896	p.Arg9Trp	rs1553248641	missense variant	-	NC_000001.11:g.209801389G>A	-
IRF6	O14896	p.Arg9Gln	rs1553248640	missense variant	-	NC_000001.11:g.209801388C>T	-
IRF6	O14896	p.Arg9Gln	RCV000523309	missense variant	-	NC_000001.11:g.209801388C>T	ClinVar
IRF6	O14896	p.Lys11Ter	COSM6060781	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209801383T>A	NCI-TCGA Cosmic
IRF6	O14896	p.Pro12Ter	RCV000482166	frameshift	-	NC_000001.11:g.209801385dup	ClinVar
IRF6	O14896	p.Trp13Ser	COSM425217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801376C>G	NCI-TCGA Cosmic
IRF6	O14896	p.Leu14Arg	RCV000702603	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209801372_209801373delinsAC	ClinVar
IRF6	O14896	p.Val15Gly	rs1257209328	missense variant	-	NC_000001.11:g.209801370A>C	gnomAD
IRF6	O14896	p.Ala16Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209801367G>A	NCI-TCGA
IRF6	O14896	p.Ala16Val	VAR_030047	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Val18Met	VAR_014963	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Val18Ala	VAR_014962	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Leu22Pro	rs387906967	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209801349A>G	-
IRF6	O14896	p.Leu22Pro	rs387906967	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801349A>G	UniProt,dbSNP
IRF6	O14896	p.Leu22Pro	VAR_030048	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801349A>G	UniProt
IRF6	O14896	p.Leu22Pro	RCV000023629	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209801349A>G	ClinVar
IRF6	O14896	p.Leu22Pro	RCV000023628	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801349A>G	ClinVar
IRF6	O14896	p.Pro24Leu	COSM3482934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801343G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Ile27Ser	rs758936784	missense variant	-	NC_000001.11:g.209801334A>C	ExAC,gnomAD
IRF6	O14896	p.Trp28Gly	rs1553248637	missense variant	-	NC_000001.11:g.209801332A>C	-
IRF6	O14896	p.Trp28Gly	RCV000550426	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209801332A>C	ClinVar
IRF6	O14896	p.Leu29Arg	rs1057523749	missense variant	-	NC_000001.11:g.209801328A>C	-
IRF6	O14896	p.Leu29Arg	RCV000426444	missense variant	-	NC_000001.11:g.209801328A>C	ClinVar
IRF6	O14896	p.Arg31Lys	rs1195798499	missense variant	-	NC_000001.11:g.209801322C>T	TOPMed,gnomAD
IRF6	O14896	p.Ser33Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209801316G>T	NCI-TCGA
IRF6	O14896	p.Ser33Cys	rs753244751	missense variant	-	NC_000001.11:g.209801316G>C	ExAC,gnomAD
IRF6	O14896	p.Lys34Glu	rs1057521133	missense variant	-	NC_000001.11:g.209801314T>C	-
IRF6	O14896	p.Lys34Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209801313T>G	NCI-TCGA
IRF6	O14896	p.Lys34Glu	RCV000437849	missense variant	-	NC_000001.11:g.209801314T>C	ClinVar
IRF6	O14896	p.Arg35ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.209801311_209801312insT	NCI-TCGA
IRF6	O14896	p.Arg35His	rs1334475866	missense variant	-	NC_000001.11:g.209801310C>T	TOPMed,gnomAD
IRF6	O14896	p.Arg35Cys	rs771539601	missense variant	-	NC_000001.11:g.209801311G>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ile38Thr	RCV000449637	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801301A>G	ClinVar
IRF6	O14896	p.Ile38Val	rs766632816	missense variant	-	NC_000001.11:g.209801302T>C	ExAC,gnomAD
IRF6	O14896	p.Ile38Thr	rs1060499555	missense variant	-	NC_000001.11:g.209801301A>G	-
IRF6	O14896	p.Ile38Met	rs368415169	missense variant	-	NC_000001.11:g.209801300A>C	ESP,TOPMed,gnomAD
IRF6	O14896	p.Pro39Ser	COSM3482933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801299G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Pro39Ala	COSM1295816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801299G>C	NCI-TCGA Cosmic
IRF6	O14896	p.Pro39Ala	VAR_014964	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Trp40Cys	RCV000539247	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801294C>A	ClinVar
IRF6	O14896	p.Trp40Cys	rs1553248635	missense variant	-	NC_000001.11:g.209801294C>A	-
IRF6	O14896	p.Arg45Pro	COSM1320516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801280C>G	NCI-TCGA Cosmic
IRF6	O14896	p.Arg45Trp	rs774307404	missense variant	-	NC_000001.11:g.209801281G>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Arg45Gln	rs121434229	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801280C>T	UniProt,dbSNP
IRF6	O14896	p.Arg45Gln	VAR_030049	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209801280C>T	UniProt
IRF6	O14896	p.Arg45Gln	rs121434229	missense variant	-	NC_000001.11:g.209801280C>T	1000Genomes,ExAC,gnomAD
IRF6	O14896	p.Arg45Gln	RCV000003590	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801280C>T	ClinVar
IRF6	O14896	p.Ser47Cys	rs1174452928	missense variant	-	NC_000001.11:g.209801275T>A	gnomAD
IRF6	O14896	p.Ser47Thr	rs1022594601	missense variant	-	NC_000001.11:g.209801274C>G	gnomAD
IRF6	O14896	p.Ser47Ile	rs1022594601	missense variant	-	NC_000001.11:g.209801274C>A	gnomAD
IRF6	O14896	p.Pro48Leu	rs762950603	missense variant	-	NC_000001.11:g.209801271G>A	ExAC,gnomAD
IRF6	O14896	p.Gln49Ter	RCV000033164	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209801269G>A	ClinVar
IRF6	O14896	p.Gln49Ter	rs397515434	stop gained	-	NC_000001.11:g.209801269G>A	-
IRF6	O14896	p.Gln50Pro	rs1294525652	missense variant	-	NC_000001.11:g.209801265T>G	TOPMed
IRF6	O14896	p.Glu51Lys	COSM6060782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801263C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Glu52Ter	rs886039570	stop gained	-	NC_000001.11:g.209801260C>A	-
IRF6	O14896	p.Glu52Ter	RCV000255193	nonsense	-	NC_000001.11:g.209801260C>A	ClinVar
IRF6	O14896	p.Glu53Lys	COSM3482932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209801257C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Asn54His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209801254T>G	NCI-TCGA
IRF6	O14896	p.Ile56Val	rs769172583	missense variant	-	NC_000001.11:g.209801248T>C	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Phe57LeuPheSerTerUnk	COSM1929271	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209801243A>-	NCI-TCGA Cosmic
IRF6	O14896	p.Trp60Ter	COSM903347	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209796547C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Trp60Gly	VAR_014965	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
IRF6	O14896	p.Ala61Thr	RCV000413706	missense variant	-	NC_000001.11:g.209796546C>T	ClinVar
IRF6	O14896	p.Ala61Thr	rs1057517975	missense variant	-	NC_000001.11:g.209796546C>T	-
IRF6	O14896	p.Ala61Gly	VAR_014966	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Val62Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796543C>T	NCI-TCGA
IRF6	O14896	p.Glu63Gln	rs1238041386	missense variant	-	NC_000001.11:g.209796540C>G	gnomAD
IRF6	O14896	p.Thr64Ile	VAR_030050	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Lys66Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.209796531T>A	NCI-TCGA
IRF6	O14896	p.Lys66Thr	VAR_014967	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
IRF6	O14896	p.Gly70Arg	rs776236749	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209796519C>T	UniProt,dbSNP
IRF6	O14896	p.Gly70Arg	VAR_014968	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209796519C>T	UniProt
IRF6	O14896	p.Gly70Arg	rs776236749	missense variant	-	NC_000001.11:g.209796519C>T	ExAC,gnomAD
IRF6	O14896	p.Val71Leu	rs770388841	missense variant	-	NC_000001.11:g.209796516C>G	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Val71GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.209796515_209796516insC	NCI-TCGA
IRF6	O14896	p.Asp72Asn	COSM458294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796513C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Asp75Glu	rs1308973974	missense variant	-	NC_000001.11:g.209796502G>T	TOPMed,gnomAD
IRF6	O14896	p.Pro76Ser	RCV000255718	missense variant	-	NC_000001.11:g.209796501G>A	ClinVar
IRF6	O14896	p.Pro76Ser	RCV000640123	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209796501G>A	ClinVar
IRF6	O14896	p.Pro76Ser	rs886039388	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209796501G>A	UniProt,dbSNP
IRF6	O14896	p.Pro76Ser	VAR_014969	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209796501G>A	UniProt
IRF6	O14896	p.Pro76Ser	rs886039388	missense variant	-	NC_000001.11:g.209796501G>A	-
IRF6	O14896	p.Lys78Glu	rs1553248271	missense variant	-	NC_000001.11:g.209796495T>C	-
IRF6	O14896	p.Lys78Glu	RCV000532310	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209796495T>C	ClinVar
IRF6	O14896	p.Ala81Asp	rs1553248270	missense variant	-	NC_000001.11:g.209796485G>T	-
IRF6	O14896	p.Ala81Asp	RCV000533956	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209796485G>T	ClinVar
IRF6	O14896	p.Gln82Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796483G>C	NCI-TCGA
IRF6	O14896	p.Gln82His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796481C>G	NCI-TCGA
IRF6	O14896	p.Gln82Arg	rs916433104	missense variant	-	NC_000001.11:g.209796482T>C	TOPMed,gnomAD
IRF6	O14896	p.Gln82Lys	VAR_014970	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
IRF6	O14896	p.Arg84Ser	COSM425216	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796477G>T	NCI-TCGA Cosmic
IRF6	O14896	p.Arg84Cys	RCV000255145	missense variant	-	NC_000001.11:g.209796477G>A	ClinVar
IRF6	O14896	p.Arg84His	RCV000489578	missense variant	-	NC_000001.11:g.209796476C>T	ClinVar
IRF6	O14896	p.Arg84Cys	RCV000003583	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796477G>A	ClinVar
IRF6	O14896	p.Arg84His	rs121434227	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>T	UniProt,dbSNP
IRF6	O14896	p.Arg84His	VAR_014972	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>T	UniProt
IRF6	O14896	p.Arg84His	rs121434227	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209796476C>T	-
IRF6	O14896	p.Arg84Cys	RCV000703760	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796477G>A	ClinVar
IRF6	O14896	p.Arg84Leu	RCV000023630	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>A	ClinVar
IRF6	O14896	p.Arg84His	RCV000003584	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>T	ClinVar
IRF6	O14896	p.Arg84Leu	rs121434227	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>A	UniProt,dbSNP
IRF6	O14896	p.Arg84Leu	VAR_064475	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796476C>A	UniProt
IRF6	O14896	p.Arg84Leu	rs121434227	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209796476C>A	-
IRF6	O14896	p.Arg84Cys	rs121434226	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209796477G>A	-
IRF6	O14896	p.Arg84Cys	rs121434226	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796477G>A	UniProt,dbSNP
IRF6	O14896	p.Arg84Cys	VAR_014971	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209796477G>A	UniProt
IRF6	O14896	p.Arg84Gly	VAR_030051	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Ala86Val	COSM903346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796470G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Ala86Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796471C>T	NCI-TCGA
IRF6	O14896	p.Leu87Pro	RCV000640124	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209796467A>G	ClinVar
IRF6	O14896	p.Leu87Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796468G>A	NCI-TCGA
IRF6	O14896	p.Leu87Pro	rs1553248267	missense variant	-	NC_000001.11:g.209796467A>G	-
IRF6	O14896	p.Asn88Lys	rs1553248265	missense variant	-	NC_000001.11:g.209796463A>T	-
IRF6	O14896	p.Asn88Lys	RCV000640127	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209796463A>T	ClinVar
IRF6	O14896	p.Asn88His	VAR_014973	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Lys89Ter	RCV000309598	nonsense	-	NC_000001.11:g.209796462T>A	ClinVar
IRF6	O14896	p.Lys89Ter	rs886041484	stop gained	-	NC_000001.11:g.209796462T>A	-
IRF6	O14896	p.Lys89Glu	VAR_014974	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
IRF6	O14896	p.Ser90Gly	VAR_014975	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Arg91Ser	rs1553248262	missense variant	-	NC_000001.11:g.209796454T>A	-
IRF6	O14896	p.Arg91Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796456T>C	NCI-TCGA
IRF6	O14896	p.Arg91Ser	RCV000677181	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209796454T>A	ClinVar
IRF6	O14896	p.Glu92Lys	COSM236762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796453C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Glu92Ter	RCV000003580	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209796453C>A	ClinVar
IRF6	O14896	p.Glu92Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796453C>G	NCI-TCGA
IRF6	O14896	p.Glu92Ter	rs121434224	stop gained	-	NC_000001.11:g.209796453C>A	-
IRF6	O14896	p.Asn94Ser	rs748520173	missense variant	-	NC_000001.11:g.209796446T>C	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Met96Ile	RCV000503820	missense variant	-	NC_000001.11:g.209796439C>T	ClinVar
IRF6	O14896	p.Met96Ile	rs779234287	missense variant	-	NC_000001.11:g.209796439C>T	ExAC,gnomAD
IRF6	O14896	p.Asp98His	VAR_014976	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Gly99Val	COSM903345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796431C>A	NCI-TCGA Cosmic
IRF6	O14896	p.Gly99Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796431C>T	NCI-TCGA
IRF6	O14896	p.Thr100Ala	VAR_030052	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Lys101Glu	COSM269387	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796426T>C	NCI-TCGA Cosmic
IRF6	O14896	p.Pro104Ser	COSM1320517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796417G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Met105Ile	rs762910480	missense variant	-	NC_000001.11:g.209796412C>T	ExAC,gnomAD
IRF6	O14896	p.Met105Val	rs1032249718	missense variant	-	NC_000001.11:g.209796414T>C	TOPMed
IRF6	O14896	p.Met105Ile	rs762910480	missense variant	-	NC_000001.11:g.209796412C>A	ExAC,gnomAD
IRF6	O14896	p.Val108Leu	rs12126910	missense variant	-	NC_000001.11:g.209796405C>G	gnomAD
IRF6	O14896	p.Val108Leu	rs12126910	missense variant	-	NC_000001.11:g.209796405C>A	gnomAD
IRF6	O14896	p.Lys109Asn	COSM903344	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796400C>A	NCI-TCGA Cosmic
IRF6	O14896	p.Gln112Glu	rs116264750	missense variant	-	NC_000001.11:g.209796393G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Asp115Tyr	COSM6123881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796384C>A	NCI-TCGA Cosmic
IRF6	O14896	p.Ile116Leu	rs1223298339	missense variant	-	NC_000001.11:g.209796381T>G	TOPMed
IRF6	O14896	p.Pro117Ser	COSM3482931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209796378G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Pro117Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796377G>A	NCI-TCGA
IRF6	O14896	p.Gln118Arg	rs1425877931	missense variant	-	NC_000001.11:g.209796374T>C	gnomAD
IRF6	O14896	p.Gln118Ter	rs1057520569	stop gained	-	NC_000001.11:g.209796375G>A	TOPMed
IRF6	O14896	p.Gln118Glu	rs1057520569	missense variant	-	NC_000001.11:g.209796375G>C	TOPMed
IRF6	O14896	p.Gln118Ter	RCV000435675	nonsense	-	NC_000001.11:g.209796375G>A	ClinVar
IRF6	O14896	p.Pro119Leu	rs907520955	missense variant	-	NC_000001.11:g.209796371G>A	TOPMed
IRF6	O14896	p.Gln120His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796367C>A	NCI-TCGA
IRF6	O14896	p.Gln120Arg	rs767916600	missense variant	-	NC_000001.11:g.209796368T>C	ExAC,gnomAD
IRF6	O14896	p.Gly121Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796366C>A	NCI-TCGA
IRF6	O14896	p.Gly121Val	RCV000677182	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209796365C>A	ClinVar
IRF6	O14896	p.Gly121Val	rs1553248247	missense variant	-	NC_000001.11:g.209796365C>A	-
IRF6	O14896	p.Ser122Leu	rs373642185	missense variant	-	NC_000001.11:g.209796362G>A	ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ile123Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209796359A>C	NCI-TCGA
IRF6	O14896	p.Ile124Phe	rs1488488716	missense variant	-	NC_000001.11:g.209796357T>A	gnomAD
IRF6	O14896	p.Gly127Ala	rs1291766475	missense variant	-	NC_000001.11:g.209795418C>G	gnomAD
IRF6	O14896	p.Thr129Ala	rs111967373	missense variant	-	NC_000001.11:g.209795413T>C	gnomAD
IRF6	O14896	p.Ser131Pro	rs772727412	missense variant	-	NC_000001.11:g.209795407A>G	ExAC,gnomAD
IRF6	O14896	p.Ala132Val	rs1361723326	missense variant	-	NC_000001.11:g.209795403G>A	TOPMed
IRF6	O14896	p.Pro133Leu	rs1452680898	missense variant	-	NC_000001.11:g.209795400G>A	TOPMed
IRF6	O14896	p.Trp134Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209795396C>A	NCI-TCGA
IRF6	O14896	p.Trp134Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.209795397C>T	NCI-TCGA
IRF6	O14896	p.Trp134Arg	rs767120501	missense variant	-	NC_000001.11:g.209795398A>G	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Asp135Asn	COSM3482928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795395C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Asp135Gly	rs761427808	missense variant	-	NC_000001.11:g.209795394T>C	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Glu136Lys	rs773927766	missense variant	-	NC_000001.11:g.209795392C>T	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Lys137Asn	COSM678790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795387C>A	NCI-TCGA Cosmic
IRF6	O14896	p.Asn139Asp	rs147425628	missense variant	-	NC_000001.11:g.209795383T>C	ESP,TOPMed,gnomAD
IRF6	O14896	p.Asp140Asn	rs1164527992	missense variant	-	NC_000001.11:g.209795380C>T	gnomAD
IRF6	O14896	p.Val141Met	rs769053727	missense variant	-	NC_000001.11:g.209795377C>T	ExAC,gnomAD
IRF6	O14896	p.Asp142Gly	rs1441749153	missense variant	-	NC_000001.11:g.209795373T>C	TOPMed
IRF6	O14896	p.Glu143Lys	COSM1929263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795371C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Glu144Asp	rs1183465627	missense variant	-	NC_000001.11:g.209795366T>G	gnomAD
IRF6	O14896	p.Asp145Val	rs190422273	missense variant	-	NC_000001.11:g.209795364T>A	1000Genomes,ExAC,gnomAD
IRF6	O14896	p.Asp145Glu	rs770438720	missense variant	-	NC_000001.11:g.209795363A>T	ExAC
IRF6	O14896	p.Glu147Gly	COSM71195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795358T>C	NCI-TCGA Cosmic
IRF6	O14896	p.Asp148Gly	rs1553248182	missense variant	-	NC_000001.11:g.209795355T>C	-
IRF6	O14896	p.Asp148Glu	rs745893677	missense variant	-	NC_000001.11:g.209795354A>T	ExAC,gnomAD
IRF6	O14896	p.Asp148Gly	RCV000677183	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209795355T>C	ClinVar
IRF6	O14896	p.Glu149Lys	rs1024327039	missense variant	-	NC_000001.11:g.209795353C>T	TOPMed
IRF6	O14896	p.Asp151Asn	COSM6054427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795347C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Gln152Ter	rs1057520738	stop gained	-	NC_000001.11:g.209795344G>A	-
IRF6	O14896	p.Gln152Ter	RCV000443013	nonsense	-	NC_000001.11:g.209795344G>A	ClinVar
IRF6	O14896	p.Ser153Leu	rs781389179	missense variant	-	NC_000001.11:g.209795340G>A	ExAC,gnomAD
IRF6	O14896	p.Ser153Ala	RCV000677184	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209795341A>C	ClinVar
IRF6	O14896	p.Ser153Ala	rs1553248180	missense variant	-	NC_000001.11:g.209795341A>C	-
IRF6	O14896	p.His155Tyr	rs1261657409	missense variant	-	NC_000001.11:g.209795335G>A	TOPMed
IRF6	O14896	p.His156Arg	rs777922782	missense variant	-	NC_000001.11:g.209795331T>C	ExAC,gnomAD
IRF6	O14896	p.Pro158Ser	COSM3482926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209795326G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Pro158His	rs754733603	missense variant	-	NC_000001.11:g.209795325G>T	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Pro158Leu	rs754733603	missense variant	-	NC_000001.11:g.209795325G>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ile159Ser	rs934436973	missense variant	-	NC_000001.11:g.209795322A>C	TOPMed
IRF6	O14896	p.Gln160Leu	rs753585513	missense variant	-	NC_000001.11:g.209795319T>A	ExAC,gnomAD
IRF6	O14896	p.Gln160His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209795318C>A	NCI-TCGA
IRF6	O14896	p.Gln160Ter	rs1322638469	stop gained	-	NC_000001.11:g.209795320G>A	gnomAD
IRF6	O14896	p.Asp161Val	rs1222530151	missense variant	-	NC_000001.11:g.209795316T>A	gnomAD
IRF6	O14896	p.Phe163Tyr	rs1310697098	missense variant	-	NC_000001.11:g.209795310A>T	gnomAD
IRF6	O14896	p.Phe163Leu	rs779914200	missense variant	-	NC_000001.11:g.209795311A>G	ExAC,gnomAD
IRF6	O14896	p.Pro164Ala	rs1033149441	missense variant	-	NC_000001.11:g.209795308G>C	-
IRF6	O14896	p.Pro164Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209795307G>C	NCI-TCGA
IRF6	O14896	p.Pro164Ala	RCV000677185	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209795308G>C	ClinVar
IRF6	O14896	p.Pro164Leu	rs756081116	missense variant	-	NC_000001.11:g.209795307G>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ile168Val	rs766995537	missense variant	-	NC_000001.11:g.209795296T>C	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Asn169Ser	rs201297833	missense variant	-	NC_000001.11:g.209795292T>C	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Gly170Ser	rs1166692475	missense variant	-	NC_000001.11:g.209795290C>T	gnomAD
IRF6	O14896	p.Gly170Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209795290C>G	NCI-TCGA
IRF6	O14896	p.Pro172His	rs1268988128	missense variant	-	NC_000001.11:g.209792421G>T	TOPMed,gnomAD
IRF6	O14896	p.Pro172Ser	RCV000677186	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209792422G>A	ClinVar
IRF6	O14896	p.Pro172Leu	rs1268988128	missense variant	-	NC_000001.11:g.209792421G>A	TOPMed,gnomAD
IRF6	O14896	p.Pro172Ser	rs1553247899	missense variant	-	NC_000001.11:g.209792422G>A	-
IRF6	O14896	p.Met173Val	rs756721753	missense variant	-	NC_000001.11:g.209792419T>C	ExAC,gnomAD
IRF6	O14896	p.Ala174Val	rs751045613	missense variant	-	NC_000001.11:g.209792415G>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Val178Met	rs1219340322	missense variant	-	NC_000001.11:g.209792404C>T	gnomAD
IRF6	O14896	p.Val183Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209792389C>T	NCI-TCGA
IRF6	O14896	p.Ser187Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209792376C>A	NCI-TCGA
IRF6	O14896	p.Pro188Leu	rs377332433	missense variant	-	NC_000001.11:g.209792373G>A	ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Glu189Lys	RCV000699343	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209792371C>T	ClinVar
IRF6	O14896	p.Val191Met	rs777210072	missense variant	-	NC_000001.11:g.209792365C>T	ExAC,gnomAD
IRF6	O14896	p.Trp192Ter	RCV000254805	nonsense	-	NC_000001.11:g.209792360C>T	ClinVar
IRF6	O14896	p.Trp192Ter	COSM4027767	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209792361C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Trp192Ter	rs886039389	stop gained	-	NC_000001.11:g.209792360C>T	-
IRF6	O14896	p.Trp192Leu	rs1399955256	missense variant	-	NC_000001.11:g.209792361C>A	gnomAD
IRF6	O14896	p.Thr195Ile	rs760757234	missense variant	-	NC_000001.11:g.209792352G>A	ExAC,gnomAD
IRF6	O14896	p.Pro197Leu	rs773191769	missense variant	-	NC_000001.11:g.209792346G>A	ExAC
IRF6	O14896	p.Glu199Lys	rs1553247888	missense variant	-	NC_000001.11:g.209792341C>T	-
IRF6	O14896	p.Glu199Lys	RCV000677187	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209792341C>T	ClinVar
IRF6	O14896	p.Glu199Asp	rs772238833	missense variant	-	NC_000001.11:g.209792339C>A	ExAC,gnomAD
IRF6	O14896	p.Met200Val	RCV000346568	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209792338T>C	ClinVar
IRF6	O14896	p.Met200Val	RCV000396980	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000001.11:g.209792338T>C	ClinVar
IRF6	O14896	p.Met200Val	RCV000284633	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209792338T>C	ClinVar
IRF6	O14896	p.Met200Val	rs886045884	missense variant	-	NC_000001.11:g.209792338T>C	-
IRF6	O14896	p.Glu201Lys	rs748299767	missense variant	-	NC_000001.11:g.209792335C>T	ExAC,gnomAD
IRF6	O14896	p.Pro203Ser	rs774616831	missense variant	-	NC_000001.11:g.209792329G>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Gln204Pro	rs1447191778	missense variant	-	NC_000001.11:g.209792325T>G	TOPMed,gnomAD
IRF6	O14896	p.Pro206Leu	rs892833659	missense variant	-	NC_000001.11:g.209792319G>A	TOPMed,gnomAD
IRF6	O14896	p.Ile207Met	rs201071781	missense variant	-	NC_000001.11:g.209792315T>C	ESP,ExAC,gnomAD
IRF6	O14896	p.Pro209Leu	rs781051292	missense variant	-	NC_000001.11:g.209792310G>A	ExAC,gnomAD
IRF6	O14896	p.Tyr211Ser	rs369802663	missense variant	-	NC_000001.11:g.209792304T>G	ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Tyr211Cys	rs369802663	missense variant	-	NC_000001.11:g.209792304T>C	ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ser212Asn	RCV000677188	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209792301C>T	ClinVar
IRF6	O14896	p.Ser212Cys	rs923069332	missense variant	-	NC_000001.11:g.209792302T>A	TOPMed,gnomAD
IRF6	O14896	p.Ser212Asn	rs1553247880	missense variant	-	NC_000001.11:g.209792301C>T	-
IRF6	O14896	p.Ser213Thr	rs777125626	missense variant	-	NC_000001.11:g.209792299A>T	ExAC,gnomAD
IRF6	O14896	p.Ser213Cys	rs757984142	missense variant	-	NC_000001.11:g.209792298G>C	ExAC,gnomAD
IRF6	O14896	p.Ser219Asn	rs1315902592	missense variant	-	NC_000001.11:g.209792280C>T	TOPMed
IRF6	O14896	p.Ser220Phe	rs1553247877	missense variant	-	NC_000001.11:g.209792277G>A	-
IRF6	O14896	p.Ser220Phe	RCV000677639	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209792277G>A	ClinVar
IRF6	O14896	p.Ser220Pro	rs752392670	missense variant	-	NC_000001.11:g.209792278A>G	ExAC,gnomAD
IRF6	O14896	p.Lys229Gln	rs1342217893	missense variant	-	NC_000001.11:g.209790870T>G	gnomAD
IRF6	O14896	p.Lys229Ter	RCV000486119	frameshift	-	NC_000001.11:g.209790870del	ClinVar
IRF6	O14896	p.Phe230Leu	rs1307051774	missense variant	-	NC_000001.11:g.209790867A>G	gnomAD
IRF6	O14896	p.Phe230Leu	rs757779208	missense variant	-	NC_000001.11:g.209790865A>C	ExAC,gnomAD
IRF6	O14896	p.Arg233His	rs778658110	missense variant	-	NC_000001.11:g.209790857C>T	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Arg233Cys	rs747672901	missense variant	-	NC_000001.11:g.209790858G>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Lys235Arg	rs1403249714	missense variant	-	NC_000001.11:g.209790851T>C	gnomAD
IRF6	O14896	p.Gly238Arg	rs1474008593	missense variant	-	NC_000001.11:g.209790843C>G	gnomAD
IRF6	O14896	p.Gly238Arg	rs1474008593	missense variant	-	NC_000001.11:g.209790843C>T	gnomAD
IRF6	O14896	p.Gln239Ter	COSM678792	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209790840G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Gln239His	COSM678793	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790838C>G	NCI-TCGA Cosmic
IRF6	O14896	p.Gln239Arg	rs1019238353	missense variant	-	NC_000001.11:g.209790839T>C	TOPMed
IRF6	O14896	p.Thr242Ile	rs766634450	missense variant	-	NC_000001.11:g.209790830G>A	ExAC,gnomAD
IRF6	O14896	p.Val243Met	rs750893421	missense variant	-	NC_000001.11:g.209790828C>T	ExAC,gnomAD
IRF6	O14896	p.Ser244Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790825T>C	NCI-TCGA
IRF6	O14896	p.Pro246Ala	rs1240112893	missense variant	-	NC_000001.11:g.209790819G>C	gnomAD
IRF6	O14896	p.Gln247Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.209790816G>A	NCI-TCGA
IRF6	O14896	p.Arg250Gln	rs1553247774	missense variant	-	NC_000001.11:g.209790806C>T	-
IRF6	O14896	p.Arg250Gln	rs1553247774	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209790806C>T	UniProt,dbSNP
IRF6	O14896	p.Arg250Gln	VAR_014977	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209790806C>T	UniProt
IRF6	O14896	p.Arg250Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790806C>A	NCI-TCGA
IRF6	O14896	p.Arg250Gln	RCV000544777	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209790806C>T	ClinVar
IRF6	O14896	p.Leu251Pro	VAR_030053	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Phe252Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790800A>G	NCI-TCGA
IRF6	O14896	p.Asp255Tyr	rs1340604552	missense variant	-	NC_000001.11:g.209790792C>A	TOPMed
IRF6	O14896	p.Asp255Asn	rs1340604552	missense variant	-	NC_000001.11:g.209790792C>T	TOPMed
IRF6	O14896	p.Pro258Ser	COSM5930574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790783G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Met259Leu	rs1221008936	missense variant	-	NC_000001.11:g.209790780T>A	TOPMed
IRF6	O14896	p.Met259Ile	rs145682768	missense variant	-	NC_000001.11:g.209790778C>T	ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Asp261Asn	rs201017955	missense variant	-	NC_000001.11:g.209790774C>T	1000Genomes,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Asp261His	rs201017955	missense variant	-	NC_000001.11:g.209790774C>G	1000Genomes,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Gln262Ter	COSM3482924	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209790771G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Glu264Lys	COSM3482923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790765C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Leu265Phe	COSM5629500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790762G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Pro268Leu	COSM903343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790752G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Val269Ile	rs112435119	missense variant	-	NC_000001.11:g.209790750C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ser270Gly	rs1376908799	missense variant	-	NC_000001.11:g.209790747T>C	gnomAD
IRF6	O14896	p.Leu271Val	COSM3984682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790744G>C	NCI-TCGA Cosmic
IRF6	O14896	p.Glu272Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790739C>A	NCI-TCGA
IRF6	O14896	p.Gln273His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790736C>A	NCI-TCGA
IRF6	O14896	p.Gln273Arg	VAR_014978	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Val274Ile	RCV000253203	missense variant	-	NC_000001.11:g.209790735C>T	ClinVar
IRF6	O14896	p.Val274Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790734A>T	NCI-TCGA
IRF6	O14896	p.Val274Ile	RCV000273414	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209790735C>T	ClinVar
IRF6	O14896	p.Val274Ile	RCV000331862	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000001.11:g.209790735C>T	ClinVar
IRF6	O14896	p.Val274Ile	rs2235371	missense variant	-	NC_000001.11:g.209790735C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Val274Ile	rs2235371	missense variant	-	NC_000001.11:g.209790735C>T	UniProt,dbSNP
IRF6	O14896	p.Val274Ile	VAR_014979	missense variant	-	NC_000001.11:g.209790735C>T	UniProt
IRF6	O14896	p.Val274Ile	RCV000356319	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209790735C>T	ClinVar
IRF6	O14896	p.Pro277Leu	rs1023837870	missense variant	-	NC_000001.11:g.209790725G>A	TOPMed
IRF6	O14896	p.Gly278Ser	rs772155613	missense variant	-	NC_000001.11:g.209790723C>T	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Pro279His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790719G>T	NCI-TCGA
IRF6	O14896	p.Pro279Thr	rs1330128538	missense variant	-	NC_000001.11:g.209790720G>T	gnomAD
IRF6	O14896	p.His281Arg	rs778531449	missense variant	-	NC_000001.11:g.209790713T>C	ExAC,gnomAD
IRF6	O14896	p.His281Pro	rs778531449	missense variant	-	NC_000001.11:g.209790713T>G	ExAC,gnomAD
IRF6	O14896	p.Asn284Thr	rs965770195	missense variant	-	NC_000001.11:g.209790704T>G	TOPMed,gnomAD
IRF6	O14896	p.Asn284Ser	rs965770195	missense variant	-	NC_000001.11:g.209790704T>C	TOPMed,gnomAD
IRF6	O14896	p.Gln287Ter	rs886039391	stop gained	-	NC_000001.11:g.209790696G>A	-
IRF6	O14896	p.Gln287Ter	RCV000254748	nonsense	-	NC_000001.11:g.209790696G>A	ClinVar
IRF6	O14896	p.Phe290_Asp296delinsLeu	VAR_014980	deletion_insertion	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Lys293Asn	COSM903342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790676C>A	NCI-TCGA Cosmic
IRF6	O14896	p.Leu294Pro	VAR_014981	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Leu295Met	rs1428576981	missense variant	-	NC_000001.11:g.209790672G>T	TOPMed
IRF6	O14896	p.Asp296Asn	COSM903341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790669C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Val297Ile	RCV000640125	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209790666C>T	ClinVar
IRF6	O14896	p.Val297Ala	rs1201366333	missense variant	-	NC_000001.11:g.209790665A>G	gnomAD
IRF6	O14896	p.Val297Phe	rs779827384	missense variant	-	NC_000001.11:g.209790666C>A	ExAC,gnomAD
IRF6	O14896	p.Val297Ile	rs779827384	missense variant	-	NC_000001.11:g.209790666C>T	ExAC,gnomAD
IRF6	O14896	p.Val297Ile	VAR_014982	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Met298Val	COSM4027764	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790663T>C	NCI-TCGA Cosmic
IRF6	O14896	p.Arg300Lys	COSM3482921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790656C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Arg300Thr	COSM3803765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790656C>G	NCI-TCGA Cosmic
IRF6	O14896	p.Gly301Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.209790654C>A	NCI-TCGA
IRF6	O14896	p.Leu304Pro	rs1064793154	missense variant	-	NC_000001.11:g.209790644A>G	-
IRF6	O14896	p.Leu304Pro	RCV000729840	missense variant	-	NC_000001.11:g.209790644A>G	ClinVar
IRF6	O14896	p.Glu305Asp	rs1260772491	missense variant	-	NC_000001.11:g.209790640C>A	gnomAD
IRF6	O14896	p.Glu305Asp	rs1260772491	missense variant	-	NC_000001.11:g.209790640C>G	gnomAD
IRF6	O14896	p.Val306Phe	COSM1338522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790639C>A	NCI-TCGA Cosmic
IRF6	O14896	p.Val306Ile	COSM3400272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790639C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Ser307Gly	rs1177323711	missense variant	-	NC_000001.11:g.209790636T>C	TOPMed
IRF6	O14896	p.Gly308Asp	rs145479239	missense variant	-	NC_000001.11:g.209790632C>T	ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ala310Thr	rs757794636	missense variant	-	NC_000001.11:g.209790627C>T	ExAC,gnomAD
IRF6	O14896	p.Tyr312His	rs752101883	missense variant	-	NC_000001.11:g.209790621A>G	ExAC,gnomAD
IRF6	O14896	p.Ala313Val	COSM3482920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790617G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Ile314Met	rs1275065450	missense variant	-	NC_000001.11:g.209790613G>C	gnomAD
IRF6	O14896	p.Cys317Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790606A>G	NCI-TCGA
IRF6	O14896	p.Lys320Glu	VAR_014983	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Val321Ala	rs752795859	missense variant	-	NC_000001.11:g.209790593A>G	ExAC,gnomAD
IRF6	O14896	p.Val321Met	VAR_014984	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Tyr322Asn	RCV000526414	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209790591A>T	ClinVar
IRF6	O14896	p.Tyr322Asn	rs1553247754	missense variant	-	NC_000001.11:g.209790591A>T	-
IRF6	O14896	p.Trp323Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790586C>A	NCI-TCGA
IRF6	O14896	p.Trp323Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790587C>G	NCI-TCGA
IRF6	O14896	p.Trp323Cys	rs1327421106	missense variant	-	NC_000001.11:g.209790586C>G	TOPMed
IRF6	O14896	p.Ser324Phe	rs940643100	missense variant	-	NC_000001.11:g.209790584G>A	TOPMed
IRF6	O14896	p.Gly325Glu	VAR_014985	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Ala328Thr	rs1174621537	missense variant	-	NC_000001.11:g.209790573C>T	gnomAD
IRF6	O14896	p.Pro329Ala	rs1435979627	missense variant	-	NC_000001.11:g.209790570G>C	gnomAD
IRF6	O14896	p.Leu331Pro	rs765508544	missense variant	-	NC_000001.11:g.209790563A>G	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Val332Ile	rs139649287	missense variant	-	NC_000001.11:g.209790561C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ala333Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790558C>A	NCI-TCGA
IRF6	O14896	p.Ala333Val	rs772030925	missense variant	-	NC_000001.11:g.209790557G>A	ExAC,gnomAD
IRF6	O14896	p.Ala333Thr	rs773087829	missense variant	-	NC_000001.11:g.209790558C>T	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Asn335His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790552T>G	NCI-TCGA
IRF6	O14896	p.Leu336Arg	RCV000313325	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000001.11:g.209790548A>C	ClinVar
IRF6	O14896	p.Leu336Arg	RCV000370290	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209790548A>C	ClinVar
IRF6	O14896	p.Leu336Arg	RCV000392763	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209790548A>C	ClinVar
IRF6	O14896	p.Leu336Arg	rs761816133	missense variant	-	NC_000001.11:g.209790548A>C	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ile337ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.209790538_209790545TCTCTCAA>-	NCI-TCGA
IRF6	O14896	p.Glu338Asp	rs375104318	missense variant	-	NC_000001.11:g.209790541C>G	ESP,ExAC,gnomAD
IRF6	O14896	p.Arg339Lys	COSM3482919	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209790539C>T	NCI-TCGA Cosmic
IRF6	O14896	p.Arg339Ile	rs121434231	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209790539C>A	-
IRF6	O14896	p.Arg339Ile	rs121434231	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209790539C>A	UniProt,dbSNP
IRF6	O14896	p.Arg339Ile	VAR_059080	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209790539C>A	UniProt
IRF6	O14896	p.Arg339Ile	RCV000003592	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209790539C>A	ClinVar
IRF6	O14896	p.Arg339Ile	RCV000023627	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209790539C>A	ClinVar
IRF6	O14896	p.Gln340Leu	rs1243774032	missense variant	-	NC_000001.11:g.209790536T>A	gnomAD
IRF6	O14896	p.Lys341Glu	rs1197057646	missense variant	-	NC_000001.11:g.209790534T>C	TOPMed
IRF6	O14896	p.Lys344Glu	rs1268089078	missense variant	-	NC_000001.11:g.209790525T>C	TOPMed
IRF6	O14896	p.Lys344Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790524T>G	NCI-TCGA
IRF6	O14896	p.Leu345Pro	VAR_014986	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Cys347Phe	VAR_014987	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Glu349Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209790509T>A	NCI-TCGA
IRF6	O14896	p.Glu349Val	VAR_030054	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Thr350Ala	rs1199593706	missense variant	-	NC_000001.11:g.209790507T>C	TOPMed
IRF6	O14896	p.Phe351Tyr	rs1224922793	missense variant	-	NC_000001.11:g.209790503A>T	gnomAD
IRF6	O14896	p.Leu352Arg	RCV000537580	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209790500A>C	ClinVar
IRF6	O14896	p.Leu352Arg	rs1553247744	missense variant	-	NC_000001.11:g.209790500A>C	-
IRF6	O14896	p.Asp354Ala	rs1330215471	missense variant	-	NC_000001.11:g.209789785T>G	TOPMed,gnomAD
IRF6	O14896	p.Asp354Asn	rs200808685	missense variant	-	NC_000001.11:g.209790495C>T	ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Lys360Arg	rs1383184626	missense variant	-	NC_000001.11:g.209789767T>C	TOPMed
IRF6	O14896	p.Gly361Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.209789765C>A	NCI-TCGA
IRF6	O14896	p.Ile363Thr	rs745512689	missense variant	-	NC_000001.11:g.209789758A>G	ExAC,gnomAD
IRF6	O14896	p.Ile363Met	rs187015884	missense variant	-	NC_000001.11:g.209789757T>C	1000Genomes,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Glu364Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209789756C>T	NCI-TCGA
IRF6	O14896	p.Gln366Glu	rs959068423	missense variant	-	NC_000001.11:g.209789750G>C	TOPMed,gnomAD
IRF6	O14896	p.Gln366Lys	rs959068423	missense variant	-	NC_000001.11:g.209789750G>T	TOPMed,gnomAD
IRF6	O14896	p.Pro367Leu	rs1467387507	missense variant	-	NC_000001.11:g.209789746G>A	gnomAD
IRF6	O14896	p.Pro368Leu	rs373826137	missense variant	-	NC_000001.11:g.209789743G>A	ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Pro368Ser	rs1162453694	missense variant	-	NC_000001.11:g.209789744G>A	gnomAD
IRF6	O14896	p.Phe369Ser	rs1185412313	missense variant	-	NC_000001.11:g.209789740A>G	gnomAD
IRF6	O14896	p.Cys374Trp	VAR_014989	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Trp379Ter	RCV000003587	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209789709C>T	ClinVar
IRF6	O14896	p.Trp379Ter	rs121434228	stop gained	-	NC_000001.11:g.209789709C>T	-
IRF6	O14896	p.Pro384Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209789696G>A	NCI-TCGA
IRF6	O14896	p.Pro384Leu	rs1263363517	missense variant	-	NC_000001.11:g.209789695G>A	gnomAD
IRF6	O14896	p.Pro384Thr	rs960479688	missense variant	-	NC_000001.11:g.209789696G>T	TOPMed
IRF6	O14896	p.Arg387Lys	rs542258348	missense variant	-	NC_000001.11:g.209789686C>T	1000Genomes,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Lys388Glu	VAR_014990	Missense	Van der Woude syndrome 1 (VWS1) [MIM:119300]	-	UniProt
IRF6	O14896	p.Leu391Phe	rs141653312	missense variant	-	NC_000001.11:g.209789673C>A	ESP,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Leu391Phe	RCV000677189	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209789673C>A	ClinVar
IRF6	O14896	p.Val392Gly	rs1553247688	missense variant	-	NC_000001.11:g.209789671A>C	-
IRF6	O14896	p.Val392Gly	RCV000677190	missense variant	Orofacial cleft 10 (OFC10)	NC_000001.11:g.209789671A>C	ClinVar
IRF6	O14896	p.Gln393Arg	rs766717077	missense variant	-	NC_000001.11:g.209789668T>C	ExAC,gnomAD
IRF6	O14896	p.Gln393Ter	RCV000003582	nonsense	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209789669G>A	ClinVar
IRF6	O14896	p.Gln393Ter	rs121434225	stop gained	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209789669G>A	-
IRF6	O14896	p.Ile395Leu	rs1353644145	missense variant	-	NC_000001.11:g.209788641T>G	gnomAD
IRF6	O14896	p.Pro396Ser	rs121434230	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209788638G>A	UniProt,dbSNP
IRF6	O14896	p.Pro396Ser	VAR_030055	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209788638G>A	UniProt
IRF6	O14896	p.Pro396Ser	rs121434230	missense variant	-	NC_000001.11:g.209788638G>A	-
IRF6	O14896	p.Pro396Ser	RCV000003591	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788638G>A	ClinVar
IRF6	O14896	p.Ala399Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209788629C>T	NCI-TCGA
IRF6	O14896	p.Ala399Ter	RCV000531368	frameshift	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788630del	ClinVar
IRF6	O14896	p.Arg400Trp	RCV000003588	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788626G>A	ClinVar
IRF6	O14896	p.Arg400Pro	rs200166664	missense variant	-	NC_000001.11:g.209788625C>G	ExAC,gnomAD
IRF6	O14896	p.Arg400Gln	rs200166664	missense variant	-	NC_000001.11:g.209788625C>T	ExAC,gnomAD
IRF6	O14896	p.Arg400Trp	rs28942095	missense variant	-	NC_000001.11:g.209788626G>A	-
IRF6	O14896	p.Arg400Trp	rs28942095	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209788626G>A	UniProt,dbSNP
IRF6	O14896	p.Arg400Trp	VAR_030056	missense variant	Van der Woude syndrome 1 (VWS1)	NC_000001.11:g.209788626G>A	UniProt
IRF6	O14896	p.Arg400Leu	rs200166664	missense variant	-	NC_000001.11:g.209788625C>A	ExAC,gnomAD
IRF6	O14896	p.Arg400Gln	RCV000087748	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788625C>T	ClinVar
IRF6	O14896	p.Met401Val	rs750716170	missense variant	-	NC_000001.11:g.209788623T>C	ExAC,gnomAD
IRF6	O14896	p.Met401Lys	rs752676152	missense variant	-	NC_000001.11:g.209788622A>T	ExAC,gnomAD
IRF6	O14896	p.Met401Thr	rs752676152	missense variant	-	NC_000001.11:g.209788622A>G	ExAC,gnomAD
IRF6	O14896	p.Met401Arg	rs752676152	missense variant	-	NC_000001.11:g.209788622A>C	ExAC,gnomAD
IRF6	O14896	p.Met401Leu	rs750716170	missense variant	-	NC_000001.11:g.209788623T>G	ExAC,gnomAD
IRF6	O14896	p.Ile402Thr	rs753375962	missense variant	-	NC_000001.11:g.209788619A>G	ExAC
IRF6	O14896	p.Ile402Phe	rs567184317	missense variant	-	NC_000001.11:g.209788620T>A	ExAC
IRF6	O14896	p.Ile402Ser	rs753375962	missense variant	-	NC_000001.11:g.209788619A>C	ExAC
IRF6	O14896	p.Ile402Val	rs567184317	missense variant	-	NC_000001.11:g.209788620T>C	ExAC
IRF6	O14896	p.Tyr403Phe	rs772477688	missense variant	-	NC_000001.11:g.209788616T>A	ExAC
IRF6	O14896	p.Tyr403Ser	rs772477688	missense variant	-	NC_000001.11:g.209788616T>G	ExAC
IRF6	O14896	p.Tyr403Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209788616T>C	NCI-TCGA
IRF6	O14896	p.Tyr403Asp	rs760295959	missense variant	-	NC_000001.11:g.209788617A>C	ExAC
IRF6	O14896	p.Tyr403Ter	rs774866638	stop gained	-	NC_000001.11:g.209788615G>T	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Glu404Lys	RCV000550066	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209788614C>T	ClinVar
IRF6	O14896	p.Glu404Lys	rs769068305	missense variant	-	NC_000001.11:g.209788614C>T	ExAC
IRF6	O14896	p.Glu404Gln	rs769068305	missense variant	-	NC_000001.11:g.209788614C>G	ExAC
IRF6	O14896	p.Gly408Ter	RCV000426709	frameshift	-	NC_000001.11:g.209788598_209788607del	ClinVar
IRF6	O14896	p.Phe410Ile	rs1397966250	missense variant	-	NC_000001.11:g.209788596A>T	gnomAD
IRF6	O14896	p.Arg412Ter	RCV000684776	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788590G>A	ClinVar
IRF6	O14896	p.Arg412Ter	RCV000556227	nonsense	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788590G>A	ClinVar
IRF6	O14896	p.Arg412Gln	rs1412251145	missense variant	-	NC_000001.11:g.209788589C>T	gnomAD
IRF6	O14896	p.Arg412Ter	rs1553247595	stop gained	-	NC_000001.11:g.209788590G>A	-
IRF6	O14896	p.Ser416Asn	rs1156568671	missense variant	-	NC_000001.11:g.209788577C>T	TOPMed
IRF6	O14896	p.Gly417Val	rs780250794	missense variant	-	NC_000001.11:g.209788574C>A	ExAC,gnomAD
IRF6	O14896	p.Arg420His	rs115777201	missense variant	-	NC_000001.11:g.209788565C>T	1000Genomes,ExAC,TOPMed,gnomAD
IRF6	O14896	p.Arg420Cys	rs770043363	missense variant	-	NC_000001.11:g.209788566G>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Ile423Ser	rs1553247592	missense variant	-	NC_000001.11:g.209788556A>C	-
IRF6	O14896	p.Ile423Ser	RCV000557916	missense variant	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209788556A>C	ClinVar
IRF6	O14896	p.Ser424Leu	RCV000023631	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788553G>A	ClinVar
IRF6	O14896	p.Ser424Leu	rs387906968	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788553G>A	UniProt,dbSNP
IRF6	O14896	p.Ser424Leu	VAR_064476	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788553G>A	UniProt
IRF6	O14896	p.Ser424Leu	rs387906968	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209788553G>A	-
IRF6	O14896	p.Pro426SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.209788543_209788549GTCTGGG>-	NCI-TCGA
IRF6	O14896	p.Asp427Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209788545C>A	NCI-TCGA
IRF6	O14896	p.Lys429Asn	rs781337512	missense variant	-	NC_000001.11:g.209788537C>G	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Asp430Asn	VAR_014991	Missense	Popliteal pterygium syndrome (PPS) [MIM:119500]	-	UniProt
IRF6	O14896	p.Asn431Asp	rs1413709711	missense variant	-	NC_000001.11:g.209788533T>C	gnomAD
IRF6	O14896	p.Asn431Ser	rs758153743	missense variant	-	NC_000001.11:g.209788532T>C	ExAC,gnomAD
IRF6	O14896	p.Ile432Met	COSM4833019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209788528G>C	NCI-TCGA Cosmic
IRF6	O14896	p.Ile432Thr	rs752456527	missense variant	-	NC_000001.11:g.209788529A>G	ExAC,gnomAD
IRF6	O14896	p.Val433Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209788527C>T	NCI-TCGA
IRF6	O14896	p.Val433Ala	rs1293034854	missense variant	-	NC_000001.11:g.209788526A>G	TOPMed
IRF6	O14896	p.Ala434Thr	rs1368495772	missense variant	-	NC_000001.11:g.209788524C>T	TOPMed
IRF6	O14896	p.Leu436Val	rs1443422415	missense variant	-	NC_000001.11:g.209788518G>C	TOPMed
IRF6	O14896	p.Gln438Ter	rs1064793155	stop gained	-	NC_000001.11:g.209788512G>A	-
IRF6	O14896	p.Gln438Leu	rs753818978	missense variant	-	NC_000001.11:g.209788511T>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Gln438Ter	RCV000483423	nonsense	-	NC_000001.11:g.209788512G>A	ClinVar
IRF6	O14896	p.Gln438Ter	RCV000707591	frameshift	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209788503_209788513del	ClinVar
IRF6	O14896	p.Gln438Pro	rs753818978	missense variant	-	NC_000001.11:g.209788511T>G	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Leu439Pro	rs886038202	missense variant	Popliteal pterygium syndrome (pps)	NC_000001.11:g.209788508A>G	-
IRF6	O14896	p.Leu439Pro	RCV000241540	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788508A>G	ClinVar
IRF6	O14896	p.Leu439Val	rs1286939391	missense variant	-	NC_000001.11:g.209788509G>C	TOPMed
IRF6	O14896	p.Tyr440His	rs202031475	missense variant	-	NC_000001.11:g.209788506A>G	ExAC,gnomAD
IRF6	O14896	p.Arg441Cys	rs1234188725	missense variant	-	NC_000001.11:g.209788503G>A	TOPMed,gnomAD
IRF6	O14896	p.Arg441Leu	rs750021967	missense variant	-	NC_000001.11:g.209788502C>A	ExAC,gnomAD
IRF6	O14896	p.Arg441His	rs750021967	missense variant	-	NC_000001.11:g.209788502C>T	ExAC,gnomAD
IRF6	O14896	p.Leu443Phe	rs767093199	missense variant	-	NC_000001.11:g.209788497G>A	ExAC,gnomAD
IRF6	O14896	p.Gln450His	rs762190983	missense variant	-	NC_000001.11:g.209788474C>A	ExAC,TOPMed,gnomAD
IRF6	O14896	p.Pro451Leu	COSM3482915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209788472G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Met452Ile	rs774613873	missense variant	-	NC_000001.11:g.209788468C>T	ExAC,TOPMed
IRF6	O14896	p.Pro454Ser	rs763532645	missense variant	-	NC_000001.11:g.209788464G>A	ExAC,gnomAD
IRF6	O14896	p.Pro456Ser	rs769992079	missense variant	-	NC_000001.11:g.209788458G>A	ExAC,gnomAD
IRF6	O14896	p.Pro456Ala	rs769992079	missense variant	-	NC_000001.11:g.209788458G>C	ExAC,gnomAD
IRF6	O14896	p.Pro456Leu	rs1469909632	missense variant	-	NC_000001.11:g.209788457G>A	TOPMed,gnomAD
IRF6	O14896	p.Ser457Ter	RCV000640128	frameshift	Orofacial cleft 6, susceptibility to (OFC6)	NC_000001.11:g.209788460del	ClinVar
IRF6	O14896	p.Ser457AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.209788456G>-	NCI-TCGA
IRF6	O14896	p.Gln459Glu	rs745948584	missense variant	-	NC_000001.11:g.209788449G>C	ExAC,gnomAD
IRF6	O14896	p.Leu460Met	rs1411467091	missense variant	-	NC_000001.11:g.209788446G>T	TOPMed
IRF6	O14896	p.Pro461Ser	rs1404701973	missense variant	-	NC_000001.11:g.209788443G>A	TOPMed
IRF6	O14896	p.Pro461Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.209788442G>A	NCI-TCGA
IRF6	O14896	p.Pro462LeuPheSerTerUnkUnk	COSM4693031	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.209788439G>-	NCI-TCGA Cosmic
IRF6	O14896	p.Ala463Val	RCV000283529	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000001.11:g.209788436G>A	ClinVar
IRF6	O14896	p.Ala463Val	RCV000396623	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.209788436G>A	ClinVar
IRF6	O14896	p.Ala463Val	RCV000340984	missense variant	Popliteal pterygium syndrome (PPS)	NC_000001.11:g.209788436G>A	ClinVar
IRF6	O14896	p.Ala463Val	rs886045883	missense variant	-	NC_000001.11:g.209788436G>A	TOPMed,gnomAD
IRF6	O14896	p.Pro466Leu	COSM3864370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.209788427G>A	NCI-TCGA Cosmic
IRF6	O14896	p.Gln467Arg	rs1195873569	missense variant	-	NC_000001.11:g.209788424T>C	gnomAD
WNT9B	O14905	p.Arg2Cys	rs770723480	missense variant	-	NC_000017.11:g.46851642C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg2Leu	rs926793763	missense variant	-	NC_000017.11:g.46851643G>T	TOPMed
WNT9B	O14905	p.Pro3Ala	rs776196246	missense variant	-	NC_000017.11:g.46851645C>G	ExAC,gnomAD
WNT9B	O14905	p.Pro4Ala	rs1170711309	missense variant	-	NC_000017.11:g.46851648C>G	TOPMed
WNT9B	O14905	p.Pro5His	rs1027704788	missense variant	-	NC_000017.11:g.46851652C>A	TOPMed,gnomAD
WNT9B	O14905	p.Leu7Met	rs1309316934	missense variant	-	NC_000017.11:g.46851657C>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala8Thr	rs1350504389	missense variant	-	NC_000017.11:g.46851660G>A	gnomAD
WNT9B	O14905	p.Ala8Ser	rs1350504389	missense variant	-	NC_000017.11:g.46851660G>T	gnomAD
WNT9B	O14905	p.Ala10Ser	rs764676163	missense variant	-	NC_000017.11:g.46851666G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly11Arg	rs1211142016	missense variant	-	NC_000017.11:g.46851669G>A	TOPMed
WNT9B	O14905	p.Leu12Phe	rs1444167754	missense variant	-	NC_000017.11:g.46851672C>T	TOPMed
WNT9B	O14905	p.Cys13Tyr	rs1306864439	missense variant	-	NC_000017.11:g.46851676G>A	TOPMed,gnomAD
WNT9B	O14905	p.Cys13Ser	rs1306864439	missense variant	-	NC_000017.11:g.46851676G>C	TOPMed,gnomAD
WNT9B	O14905	p.Ala16Glu	rs952008274	missense variant	-	NC_000017.11:g.46851685C>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala20Thr	rs1316153769	missense variant	-	NC_000017.11:g.46851696G>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala21Val	rs1220462634	missense variant	-	NC_000017.11:g.46851700C>T	gnomAD
WNT9B	O14905	p.Ala21Ser	rs1359003442	missense variant	-	NC_000017.11:g.46851699G>T	TOPMed,gnomAD
WNT9B	O14905	p.Ala21Thr	rs1359003442	missense variant	-	NC_000017.11:g.46851699G>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala22Thr	rs924772476	missense variant	-	NC_000017.11:g.46851702G>A	TOPMed,gnomAD
WNT9B	O14905	p.Gly29Ala	rs1004145986	missense variant	-	NC_000017.11:g.46872525G>C	TOPMed
WNT9B	O14905	p.Gly29Arg	rs147055144	missense variant	-	NC_000017.11:g.46872524G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg30Trp	rs770668925	missense variant	-	NC_000017.11:g.46872527C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg30Gln	rs777511530	missense variant	-	NC_000017.11:g.46872528G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu31Asp	COSM3421645	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46872532A>C	NCI-TCGA Cosmic
WNT9B	O14905	p.Leu33Pro	rs1248391615	missense variant	-	NC_000017.11:g.46872537T>C	gnomAD
WNT9B	O14905	p.Leu33Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46872537T>A	NCI-TCGA
WNT9B	O14905	p.Thr34Met	rs770672150	missense variant	-	NC_000017.11:g.46872540C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro35Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46872542C>G	NCI-TCGA
WNT9B	O14905	p.Pro35Leu	rs745497462	missense variant	-	NC_000017.11:g.46872543C>T	NCI-TCGA
WNT9B	O14905	p.Pro35Leu	rs745497462	missense variant	-	NC_000017.11:g.46872543C>T	ExAC,gnomAD
WNT9B	O14905	p.Pro37Thr	COSM95533	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46872548C>A	NCI-TCGA Cosmic
WNT9B	O14905	p.Pro37Ser	rs767745602	missense variant	-	NC_000017.11:g.46872548C>T	TOPMed,gnomAD
WNT9B	O14905	p.Pro37Arg	rs769476033	missense variant	-	NC_000017.11:g.46872549C>G	ExAC,gnomAD
WNT9B	O14905	p.Gly38Arg	rs775052722	missense variant	-	NC_000017.11:g.46872551G>A	ExAC,gnomAD
WNT9B	O14905	p.Thr41Ser	rs1190238760	missense variant	-	NC_000017.11:g.46872561C>G	TOPMed,gnomAD
WNT9B	O14905	p.Ala42Thr	rs1419850821	missense variant	-	NC_000017.11:g.46872563G>A	gnomAD
WNT9B	O14905	p.Ala42Glu	rs574292371	missense variant	-	NC_000017.11:g.46872564C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala42Val	rs574292371	missense variant	-	NC_000017.11:g.46872564C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala44Thr	rs561750885	missense variant	-	NC_000017.11:g.46872569G>A	1000Genomes,ExAC,gnomAD
WNT9B	O14905	p.Ala44Val	rs766830702	missense variant	-	NC_000017.11:g.46872570C>T	ExAC,gnomAD
WNT9B	O14905	p.Pro45Gln	rs530502749	missense variant	-	NC_000017.11:g.46872573C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro45Arg	rs530502749	missense variant	-	NC_000017.11:g.46872573C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro45Leu	rs530502749	missense variant	-	NC_000017.11:g.46872573C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro45Thr	rs754298094	missense variant	-	NC_000017.11:g.46872572C>A	ExAC,gnomAD
WNT9B	O14905	p.Gln47Arg	rs118185468	missense variant	-	NC_000017.11:g.46872579A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly48Val	rs946269035	missense variant	-	NC_000017.11:g.46872582G>T	TOPMed
WNT9B	O14905	p.Gly49Arg	rs777936396	missense variant	-	NC_000017.11:g.46872584G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala50Thr	rs757232564	missense variant	-	NC_000017.11:g.46872587G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala50Val	rs780934556	missense variant	-	NC_000017.11:g.46872588C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.His51Arg	rs1321309486	missense variant	-	NC_000017.11:g.46872591A>G	gnomAD
WNT9B	O14905	p.Lys53Arg	rs982203838	missense variant	-	NC_000017.11:g.46872597A>G	TOPMed,gnomAD
WNT9B	O14905	p.Gln54His	rs200969361	missense variant	-	NC_000017.11:g.46872601G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gln54Arg	rs779508447	missense variant	-	NC_000017.11:g.46872600A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Asp56Glu	rs200148344	missense variant	-	NC_000017.11:g.46872607C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Lys59Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46872616G>T	NCI-TCGA
WNT9B	O14905	p.Leu60Val	rs369919312	missense variant	-	NC_000017.11:g.46872617C>G	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Leu60Pro	rs1368052360	missense variant	-	NC_000017.11:g.46872618T>C	TOPMed
WNT9B	O14905	p.Arg62Gln	rs138915734	missense variant	-	NC_000017.11:g.46872624G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg62Trp	rs761237620	missense variant	-	NC_000017.11:g.46872623C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg62Gly	rs761237620	missense variant	-	NC_000017.11:g.46872623C>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg62Leu	rs138915734	missense variant	-	NC_000017.11:g.46872624G>T	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg63Trp	rs566511950	missense variant	-	NC_000017.11:g.46872626C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg63Gln	rs149418183	missense variant	-	NC_000017.11:g.46872627G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg63Trp	rs566511950	missense variant	-	NC_000017.11:g.46872626C>T	NCI-TCGA,NCI-TCGA Cosmic
WNT9B	O14905	p.Arg69Trp	rs144844694	missense variant	-	NC_000017.11:g.46872644C>T	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg69Gln	rs148393089	missense variant	-	NC_000017.11:g.46872645G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro72Ser	rs1282713416	missense variant	-	NC_000017.11:g.46872653C>T	gnomAD
WNT9B	O14905	p.Pro72His	rs751678375	missense variant	-	NC_000017.11:g.46872654C>A	ExAC,gnomAD
WNT9B	O14905	p.Gly73Ser	rs781051102	missense variant	-	NC_000017.11:g.46872656G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala75Asp	rs1213346885	missense variant	-	NC_000017.11:g.46872663C>A	gnomAD
WNT9B	O14905	p.Thr77Asn	rs1266890005	missense variant	-	NC_000017.11:g.46872669C>A	gnomAD
WNT9B	O14905	p.Asp80Asn	rs1266062625	missense variant	-	NC_000017.11:g.46872677G>A	gnomAD
WNT9B	O14905	p.Ala81Thr	rs1466900903	missense variant	-	NC_000017.11:g.46872680G>A	TOPMed
WNT9B	O14905	p.Ala82Val	rs779923395	missense variant	-	NC_000017.11:g.46872684C>T	NCI-TCGA
WNT9B	O14905	p.Ala82Thr	rs1001987910	missense variant	-	NC_000017.11:g.46872683G>A	TOPMed
WNT9B	O14905	p.Ala82Glu	rs779923395	missense variant	-	NC_000017.11:g.46872684C>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala82Val	rs779923395	missense variant	-	NC_000017.11:g.46872684C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.His83Arg	rs768397514	missense variant	-	NC_000017.11:g.46872687A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly85Ser	rs1367754683	missense variant	-	NC_000017.11:g.46872692G>A	gnomAD
WNT9B	O14905	p.Leu87Phe	rs1425530655	missense variant	-	NC_000017.11:g.46872698C>T	gnomAD
WNT9B	O14905	p.Glu88Gln	rs771718316	missense variant	-	NC_000017.11:g.46872701G>C	ExAC,gnomAD
WNT9B	O14905	p.Gln90Arg	rs760149629	missense variant	-	NC_000017.11:g.46872708A>G	ExAC,gnomAD
WNT9B	O14905	p.Gln90His	rs1280105309	missense variant	-	NC_000017.11:g.46872709G>T	gnomAD
WNT9B	O14905	p.Gln92Ter	rs770001943	stop gained	-	NC_000017.11:g.46872713C>T	ExAC,gnomAD
WNT9B	O14905	p.Arg94Gln	rs75199851	missense variant	-	NC_000017.11:g.46872720G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg94Trp	rs775970973	missense variant	-	NC_000017.11:g.46872719C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.His95Arg	rs764444576	missense variant	-	NC_000017.11:g.46872723A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu96Gly	rs761814917	missense variant	-	NC_000017.11:g.46872726A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu96Lys	rs751625191	missense variant	-	NC_000017.11:g.46872725G>A	ExAC,gnomAD
WNT9B	O14905	p.Arg97Cys	rs1005356608	missense variant	-	NC_000017.11:g.46872728C>T	gnomAD
WNT9B	O14905	p.Arg97Leu	rs201223229	missense variant	-	NC_000017.11:g.46872729G>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg97His	rs201223229	missense variant	-	NC_000017.11:g.46872729G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Asn99Ser	rs766059492	missense variant	-	NC_000017.11:g.46872735A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Asn99Tyr	COSM6081105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46872734A>T	NCI-TCGA Cosmic
WNT9B	O14905	p.Asn99Lys	rs1387397358	missense variant	-	NC_000017.11:g.46872736C>A	gnomAD
WNT9B	O14905	p.Ser101Asn	rs753736943	missense variant	-	NC_000017.11:g.46872741G>A	ExAC
WNT9B	O14905	p.Leu102Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46872744T>C	NCI-TCGA
WNT9B	O14905	p.Gly104Ser	rs557683872	missense variant	-	NC_000017.11:g.46872749G>A	NCI-TCGA,NCI-TCGA Cosmic
WNT9B	O14905	p.Gly104Ser	rs557683872	missense variant	-	NC_000017.11:g.46872749G>A	1000Genomes,ExAC,gnomAD
WNT9B	O14905	p.Arg105Lys	rs1182092564	missense variant	-	NC_000017.11:g.46872753G>A	TOPMed
WNT9B	O14905	p.Arg105Gly	rs145947242	missense variant	-	NC_000017.11:g.46872752A>G	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Met106Ile	rs534003715	missense variant	-	NC_000017.11:g.46872757G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Met106Arg	rs4968281	missense variant	-	NC_000017.11:g.46872756T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Met106Thr	rs4968281	missense variant	-	NC_000017.11:g.46872756T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly107Val	rs1329606333	missense variant	-	NC_000017.11:g.46872759G>T	TOPMed,gnomAD
WNT9B	O14905	p.Gly107Asp	rs1329606333	missense variant	-	NC_000017.11:g.46872759G>A	TOPMed,gnomAD
WNT9B	O14905	p.Arg111Ile	rs1418141548	missense variant	-	NC_000017.11:g.46872771G>T	TOPMed,gnomAD
WNT9B	O14905	p.Lys114Glu	rs1186584056	missense variant	-	NC_000017.11:g.46875106A>G	TOPMed
WNT9B	O14905	p.Glu115Ala	COSM4402454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875110A>C	NCI-TCGA Cosmic
WNT9B	O14905	p.Glu115Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46875111G>T	NCI-TCGA
WNT9B	O14905	p.Ala117Gly	rs751175581	missense variant	-	NC_000017.11:g.46875116C>G	ExAC,gnomAD
WNT9B	O14905	p.Phe118Leu	rs761421453	missense variant	-	NC_000017.11:g.46875118T>C	ExAC,gnomAD
WNT9B	O14905	p.Leu119Val	COSM1147787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875121C>G	NCI-TCGA Cosmic
WNT9B	O14905	p.Ala121Thr	rs749969946	missense variant	-	NC_000017.11:g.46875127G>A	ExAC,gnomAD
WNT9B	O14905	p.Ala121Val	rs375739988	missense variant	-	NC_000017.11:g.46875128C>T	NCI-TCGA,NCI-TCGA Cosmic
WNT9B	O14905	p.Ala121Val	rs375739988	missense variant	-	NC_000017.11:g.46875128C>T	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val122Ala	rs1392415275	missense variant	-	NC_000017.11:g.46875131T>C	gnomAD
WNT9B	O14905	p.Ser123Cys	rs1328620420	missense variant	-	NC_000017.11:g.46875134C>G	gnomAD
WNT9B	O14905	p.Ala126Thr	rs116126279	missense variant	-	NC_000017.11:g.46875142G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr130Asn	rs371468509	missense variant	-	NC_000017.11:g.46875155C>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Leu131Met	rs1242785878	missense variant	-	NC_000017.11:g.46875157C>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala132Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46875161C>T	NCI-TCGA
WNT9B	O14905	p.Arg133Trp	rs1004684045	missense variant	-	NC_000017.11:g.46875163C>T	TOPMed
WNT9B	O14905	p.Arg133Gln	rs554846731	missense variant	-	NC_000017.11:g.46875164G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg133Leu	rs554846731	missense variant	-	NC_000017.11:g.46875164G>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala134ArgVal	NCI-TCGA novel	insertion	-	NC_000017.11:g.46875168_46875169insAGGGTG	NCI-TCGA
WNT9B	O14905	p.Cys135Trp	rs1302127442	missense variant	-	NC_000017.11:g.46875171C>G	TOPMed
WNT9B	O14905	p.Ala137Thr	rs202125492	missense variant	-	NC_000017.11:g.46875175G>A	1000Genomes,ExAC,gnomAD
WNT9B	O14905	p.Ala137Val	rs1462515354	missense variant	-	NC_000017.11:g.46875176C>T	gnomAD
WNT9B	O14905	p.Arg139His	rs774054853	missense variant	-	NC_000017.11:g.46875182G>A	ExAC,gnomAD
WNT9B	O14905	p.Arg139Cys	rs1421685695	missense variant	-	NC_000017.11:g.46875181C>T	gnomAD
WNT9B	O14905	p.Arg139Leu	rs774054853	missense variant	-	NC_000017.11:g.46875182G>T	ExAC,gnomAD
WNT9B	O14905	p.Met140Ile	COSM3518418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875186G>A	NCI-TCGA Cosmic
WNT9B	O14905	p.Met140Lys	rs767136208	missense variant	-	NC_000017.11:g.46875185T>A	ExAC,gnomAD
WNT9B	O14905	p.Met140Leu	rs1267142310	missense variant	-	NC_000017.11:g.46875184A>C	gnomAD
WNT9B	O14905	p.Glu141Lys	rs1170545290	missense variant	-	NC_000017.11:g.46875187G>A	gnomAD
WNT9B	O14905	p.Glu141Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46875188A>T	NCI-TCGA
WNT9B	O14905	p.Arg142Leu	rs1024072302	missense variant	-	NC_000017.11:g.46875191G>T	TOPMed,gnomAD
WNT9B	O14905	p.Arg142His	rs1024072302	missense variant	-	NC_000017.11:g.46875191G>A	TOPMed,gnomAD
WNT9B	O14905	p.Arg142Cys	rs769660426	missense variant	-	NC_000017.11:g.46875190C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr144Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46875197C>G	NCI-TCGA
WNT9B	O14905	p.Asp147Glu	rs765909398	missense variant	-	NC_000017.11:g.46875207C>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser148Phe	rs753150520	missense variant	-	NC_000017.11:g.46875209C>T	ExAC,gnomAD
WNT9B	O14905	p.Pro149Leu	rs967098051	missense variant	-	NC_000017.11:g.46875212C>T	TOPMed,gnomAD
WNT9B	O14905	p.Gly150Glu	rs764485687	missense variant	-	NC_000017.11:g.46875215G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu152Lys	rs149949310	missense variant	-	NC_000017.11:g.46875220G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser153Ile	rs757486834	missense variant	-	NC_000017.11:g.46875224G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser153Thr	rs757486834	missense variant	-	NC_000017.11:g.46875224G>C	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg154Gln	rs756222047	missense variant	-	NC_000017.11:g.46875227G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg154Pro	rs756222047	missense variant	-	NC_000017.11:g.46875227G>C	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg154Trp	rs746091846	missense variant	-	NC_000017.11:g.46875226C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Trp159Cys	rs910262606	missense variant	-	NC_000017.11:g.46875243G>C	TOPMed
WNT9B	O14905	p.Trp159Arg	rs768544945	missense variant	-	NC_000017.11:g.46875241T>C	ExAC,gnomAD
WNT9B	O14905	p.Val161Met	rs149119515	missense variant	-	NC_000017.11:g.46875247G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val161Leu	rs149119515	missense variant	-	NC_000017.11:g.46875247G>C	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val161Glu	rs1412072667	missense variant	-	NC_000017.11:g.46875248T>A	TOPMed
WNT9B	O14905	p.Cys162Gly	rs1296121365	missense variant	-	NC_000017.11:g.46875250T>G	TOPMed
WNT9B	O14905	p.Gly163Cys	rs772815552	missense variant	-	NC_000017.11:g.46875253G>T	ExAC,gnomAD
WNT9B	O14905	p.Gly163Ser	rs772815552	missense variant	-	NC_000017.11:g.46875253G>A	ExAC,gnomAD
WNT9B	O14905	p.Asp164Val	rs1422190478	missense variant	-	NC_000017.11:g.46875257A>T	gnomAD
WNT9B	O14905	p.Leu166Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46875263T>C	NCI-TCGA
WNT9B	O14905	p.Tyr168Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46875269A>G	NCI-TCGA
WNT9B	O14905	p.Ser169Asn	rs765849480	missense variant	-	NC_000017.11:g.46875272G>A	ExAC,gnomAD
WNT9B	O14905	p.Ser169Gly	rs760338760	missense variant	-	NC_000017.11:g.46875271A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr170Ile	rs776156211	missense variant	-	NC_000017.11:g.46875275C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Lys171Glu	rs1399535819	missense variant	-	NC_000017.11:g.46875277A>G	gnomAD
WNT9B	O14905	p.Phe172Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46875280T>C	NCI-TCGA
WNT9B	O14905	p.Phe172Leu	rs1276383999	missense variant	-	NC_000017.11:g.46875282T>A	gnomAD
WNT9B	O14905	p.Ser174Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46875286A>G	NCI-TCGA
WNT9B	O14905	p.Ser174Arg	rs73987096	missense variant	-	NC_000017.11:g.46875288C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser179Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46875302C>T	NCI-TCGA
WNT9B	O14905	p.Arg181Ile	rs764565715	missense variant	-	NC_000017.11:g.46875308G>T	ExAC,gnomAD
WNT9B	O14905	p.Gly182Glu	COSM3518419	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875311G>A	NCI-TCGA Cosmic
WNT9B	O14905	p.Asn183Tyr	COSM4067195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46875313A>T	NCI-TCGA Cosmic
WNT9B	O14905	p.Asn183Lys	rs370511554	missense variant	-	NC_000017.11:g.46875315C>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Lys184Asn	rs757496576	missense variant	-	NC_000017.11:g.46875318G>C	ExAC,gnomAD
WNT9B	O14905	p.Asp185Asn	rs768024851	missense variant	-	NC_000017.11:g.46875319G>A	ExAC,gnomAD
WNT9B	O14905	p.Asp185Glu	rs115421139	missense variant	-	NC_000017.11:g.46875321C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg187Trp	rs200104547	missense variant	-	NC_000017.11:g.46875325C>T	ExAC
WNT9B	O14905	p.Arg187Gln	rs1213829551	missense variant	-	NC_000017.11:g.46875326G>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala188Thr	rs1270343087	missense variant	-	NC_000017.11:g.46875328G>A	gnomAD
WNT9B	O14905	p.Arg189Gln	rs568737032	missense variant	-	NC_000017.11:g.46875332G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg189Leu	rs568737032	missense variant	-	NC_000017.11:g.46875332G>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg189Gly	rs147677642	missense variant	-	NC_000017.11:g.46875331C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg189Trp	rs147677642	missense variant	-	NC_000017.11:g.46875331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala190Gly	rs1431848216	missense variant	-	NC_000017.11:g.46875335C>G	gnomAD
WNT9B	O14905	p.Ala190Glu	rs1431848216	missense variant	-	NC_000017.11:g.46875335C>A	gnomAD
WNT9B	O14905	p.Asp191Glu	rs142428656	missense variant	-	NC_000017.11:g.46875339C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala192Thr	rs188845108	missense variant	-	NC_000017.11:g.46875340G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.His193Arg	rs1419261201	missense variant	-	NC_000017.11:g.46875344A>G	gnomAD
WNT9B	O14905	p.Asn194Ser	rs746637340	missense variant	-	NC_000017.11:g.46875347A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr195Ala	rs770639789	missense variant	-	NC_000017.11:g.46875349A>G	ExAC,gnomAD
WNT9B	O14905	p.Val197Leu	rs201480547	missense variant	-	NC_000017.11:g.46875355G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val197Met	rs201480547	missense variant	-	NC_000017.11:g.46875355G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly198Val	rs1365381549	missense variant	-	NC_000017.11:g.46875359G>T	gnomAD
WNT9B	O14905	p.Gly198Asp	rs1365381549	missense variant	-	NC_000017.11:g.46875359G>A	gnomAD
WNT9B	O14905	p.Ile199Met	rs762405316	missense variant	-	NC_000017.11:g.46875363C>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val202Met	rs1399426717	missense variant	-	NC_000017.11:g.46876248G>A	gnomAD
WNT9B	O14905	p.Ser204Arg	rs1338447518	missense variant	-	NC_000017.11:g.46876256T>G	gnomAD
WNT9B	O14905	p.Ser204Asn	rs148340304	missense variant	-	NC_000017.11:g.46876255G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr209Met	rs752892527	missense variant	-	NC_000017.11:g.46876270C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val215Ala	rs1259325946	missense variant	-	NC_000017.11:g.46876288T>C	gnomAD
WNT9B	O14905	p.Val215Leu	rs781063224	missense variant	-	NC_000017.11:g.46876287G>C	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val215Ile	rs781063224	missense variant	-	NC_000017.11:g.46876287G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val221Met	rs372115656	missense variant	-	NC_000017.11:g.46876305G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg222Cys	rs773812928	missense variant	-	NC_000017.11:g.46876308C>T	ExAC,gnomAD
WNT9B	O14905	p.Arg222Ser	rs773812928	missense variant	-	NC_000017.11:g.46876308C>A	ExAC,gnomAD
WNT9B	O14905	p.Arg222His	rs138314634	missense variant	-	NC_000017.11:g.46876309G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg222Leu	rs138314634	missense variant	-	NC_000017.11:g.46876309G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr223Ile	rs777098128	missense variant	-	NC_000017.11:g.46876312C>T	ExAC,gnomAD
WNT9B	O14905	p.Cys224Ser	rs1422908876	missense variant	-	NC_000017.11:g.46876314T>A	gnomAD
WNT9B	O14905	p.Gln227His	rs759676285	missense variant	-	NC_000017.11:g.46876325G>C	ExAC,gnomAD
WNT9B	O14905	p.Gln227Arg	rs1295884388	missense variant	-	NC_000017.11:g.46876324A>G	TOPMed
WNT9B	O14905	p.Pro230Leu	rs765555952	missense variant	-	NC_000017.11:g.46876333C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro230Arg	rs765555952	missense variant	-	NC_000017.11:g.46876333C>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg232His	rs376925107	missense variant	-	NC_000017.11:g.46876339G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg232Pro	rs376925107	missense variant	-	NC_000017.11:g.46876339G>C	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg232Cys	rs1413589890	missense variant	-	NC_000017.11:g.46876338C>T	gnomAD
WNT9B	O14905	p.Thr234Met	rs139124897	missense variant	-	NC_000017.11:g.46876345C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly235Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46876347G>A	NCI-TCGA
WNT9B	O14905	p.Lys239Arg	COSM980344	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46876360A>G	NCI-TCGA Cosmic
WNT9B	O14905	p.Arg241His	rs138530379	missense variant	-	NC_000017.11:g.46876366G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg241Cys	rs913178601	missense variant	-	NC_000017.11:g.46876365C>T	TOPMed,gnomAD
WNT9B	O14905	p.Tyr242Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46876368T>A	NCI-TCGA
WNT9B	O14905	p.Ser244Trp	rs115163288	missense variant	-	NC_000017.11:g.46876375C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser244Leu	rs115163288	missense variant	-	NC_000017.11:g.46876375C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala245Ser	rs1200217714	missense variant	-	NC_000017.11:g.46876377G>T	gnomAD
WNT9B	O14905	p.Val246Leu	rs748976950	missense variant	-	NC_000017.11:g.46876380G>C	ExAC,gnomAD
WNT9B	O14905	p.Val246Ile	rs748976950	missense variant	-	NC_000017.11:g.46876380G>A	ExAC,gnomAD
WNT9B	O14905	p.Val248Leu	rs1245476858	missense variant	-	NC_000017.11:g.46876386G>T	TOPMed
WNT9B	O14905	p.Ala251Val	rs778611375	missense variant	-	NC_000017.11:g.46876396C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu254Gly	rs1269239953	missense variant	-	NC_000017.11:g.46876405A>G	TOPMed
WNT9B	O14905	p.Arg258His	rs149931425	missense variant	-	NC_000017.11:g.46876417G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg258Leu	rs149931425	missense variant	-	NC_000017.11:g.46876417G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg258Cys	rs771539878	missense variant	-	NC_000017.11:g.46876416C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu260Gln	rs1390279271	missense variant	-	NC_000017.11:g.46876422G>C	TOPMed
WNT9B	O14905	p.Trp262Cys	rs770061645	missense variant	-	NC_000017.11:g.46876430G>T	ExAC,gnomAD
WNT9B	O14905	p.Ala263Asp	rs564435829	missense variant	-	NC_000017.11:g.46876432C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala263Gly	rs564435829	missense variant	-	NC_000017.11:g.46876432C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala265Val	rs763186608	missense variant	-	NC_000017.11:g.46876438C>T	ExAC,gnomAD
WNT9B	O14905	p.Gln267His	rs368406991	missense variant	-	NC_000017.11:g.46876445G>C	ESP,ExAC,gnomAD
WNT9B	O14905	p.Gly268Asp	rs533419961	missense variant	-	NC_000017.11:g.46876447G>A	1000Genomes,gnomAD
WNT9B	O14905	p.Ser269Thr	rs1450443579	missense variant	-	NC_000017.11:g.46876450G>C	TOPMed
WNT9B	O14905	p.Thr271Ala	rs142604963	missense variant	-	NC_000017.11:g.46876455A>G	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr271Ser	rs1233061377	missense variant	-	NC_000017.11:g.46876456C>G	gnomAD
WNT9B	O14905	p.Ala275Thr	rs750331067	missense variant	-	NC_000017.11:g.46876467G>A	ExAC,gnomAD
WNT9B	O14905	p.Ala275Val	rs755897150	missense variant	-	NC_000017.11:g.46876468C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg277Ser	rs766108370	missense variant	-	NC_000017.11:g.46876475G>C	ExAC,gnomAD
WNT9B	O14905	p.Ser278Thr	rs1268042201	missense variant	-	NC_000017.11:g.46876476T>A	gnomAD
WNT9B	O14905	p.Tyr283Asn	rs1196489495	missense variant	-	NC_000017.11:g.46876491T>A	gnomAD
WNT9B	O14905	p.Met284Val	rs886733407	missense variant	-	NC_000017.11:g.46876494A>G	TOPMed
WNT9B	O14905	p.Met284Thr	rs1439951991	missense variant	-	NC_000017.11:g.46876495T>C	gnomAD
WNT9B	O14905	p.Glu285Ter	COSM4933642	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.46876497G>T	NCI-TCGA Cosmic
WNT9B	O14905	p.Pro288Leu	rs1182286577	missense variant	-	NC_000017.11:g.46876507C>T	TOPMed
WNT9B	O14905	p.Ser289Asn	rs754714809	missense variant	-	NC_000017.11:g.46876510G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg292Gln	rs139617595	missense variant	-	NC_000017.11:g.46876519G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg292Trp	rs778566187	missense variant	-	NC_000017.11:g.46876518C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro293Ser	rs781676873	missense variant	-	NC_000017.11:g.46876521C>T	ExAC,gnomAD
WNT9B	O14905	p.Pro293His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46876522C>A	NCI-TCGA
WNT9B	O14905	p.Ser294Asn	rs770148152	missense variant	-	NC_000017.11:g.46876525G>A	ExAC,gnomAD
WNT9B	O14905	p.Tyr296His	rs1447945897	missense variant	-	NC_000017.11:g.46876530T>C	gnomAD
WNT9B	O14905	p.Ser297Leu	rs1258557774	missense variant	-	NC_000017.11:g.46876534C>T	TOPMed
WNT9B	O14905	p.Pro298Ser	rs749481197	missense variant	-	NC_000017.11:g.46876536C>T	ExAC,gnomAD
WNT9B	O14905	p.Pro298Leu	rs1239051089	missense variant	-	NC_000017.11:g.46876537C>T	TOPMed
WNT9B	O14905	p.Gly299Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46876540G>A	NCI-TCGA
WNT9B	O14905	p.Arg303Ser	rs768924139	missense variant	-	NC_000017.11:g.46876553G>T	ExAC
WNT9B	O14905	p.Cys305Ter	rs1035869031	stop gained	-	NC_000017.11:g.46876559C>A	TOPMed
WNT9B	O14905	p.Cys305Tyr	rs1351772149	missense variant	-	NC_000017.11:g.46876558G>A	gnomAD
WNT9B	O14905	p.Ser306Tyr	rs1243156507	missense variant	-	NC_000017.11:g.46876561C>A	TOPMed
WNT9B	O14905	p.Arg307Trp	rs146452687	missense variant	-	NC_000017.11:g.46876563C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg307Gln	rs528217802	missense variant	-	NC_000017.11:g.46876564G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu308Asp	COSM6081104	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46876568G>T	NCI-TCGA Cosmic
WNT9B	O14905	p.Glu308Gly	rs772073215	missense variant	-	NC_000017.11:g.46876567A>G	ExAC,gnomAD
WNT9B	O14905	p.Ser310Gly	rs773150977	missense variant	-	NC_000017.11:g.46876572A>G	ExAC,gnomAD
WNT9B	O14905	p.Ser310Asn	rs1252538009	missense variant	-	NC_000017.11:g.46876573G>A	gnomAD
WNT9B	O14905	p.Cys311Tyr	rs1383675976	missense variant	-	NC_000017.11:g.46876576G>A	TOPMed
WNT9B	O14905	p.Ser313Ile	rs760575637	missense variant	-	NC_000017.11:g.46876582G>T	ExAC,gnomAD
WNT9B	O14905	p.Gly317Arg	rs753748759	missense variant	-	NC_000017.11:g.46876593G>C	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly317Arg	rs753748759	missense variant	-	NC_000017.11:g.46876593G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg318Trp	rs759252167	missense variant	-	NC_000017.11:g.46876596C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg318Gln	rs375590479	missense variant	-	NC_000017.11:g.46876597G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg318Pro	rs375590479	missense variant	-	NC_000017.11:g.46876597G>C	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Tyr320Cys	rs1457871744	missense variant	-	NC_000017.11:g.46876603A>G	gnomAD
WNT9B	O14905	p.Thr322Ser	rs548293670	missense variant	-	NC_000017.11:g.46876609C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser324Asn	COSM264708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46876615G>A	NCI-TCGA Cosmic
WNT9B	O14905	p.Ser324Gly	rs777170957	missense variant	-	NC_000017.11:g.46876614A>G	ExAC,gnomAD
WNT9B	O14905	p.Arg325Leu	rs756619453	missense variant	-	NC_000017.11:g.46876618G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg325Cys	rs369957679	missense variant	-	NC_000017.11:g.46876617C>T	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg325His	rs756619453	missense variant	-	NC_000017.11:g.46876618G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala328Val	rs779065433	missense variant	-	NC_000017.11:g.46876627C>T	ExAC,gnomAD
WNT9B	O14905	p.Ala328Ser	rs769012279	missense variant	-	NC_000017.11:g.46876626G>T	ExAC,gnomAD
WNT9B	O14905	p.Ser330Cys	rs1490394741	missense variant	-	NC_000017.11:g.46876633C>G	TOPMed
WNT9B	O14905	p.Ser330Pro	rs201736628	missense variant	-	NC_000017.11:g.46876632T>C	ExAC,gnomAD
WNT9B	O14905	p.His332Tyr	rs1293520975	missense variant	-	NC_000017.11:g.46876638C>T	TOPMed
WNT9B	O14905	p.Cys333Phe	rs1182041002	missense variant	-	NC_000017.11:g.46876642G>T	gnomAD
WNT9B	O14905	p.Gln334His	rs760652296	missense variant	-	NC_000017.11:g.46876646G>C	ExAC,gnomAD
WNT9B	O14905	p.Gln334Ter	rs773201960	stop gained	-	NC_000017.11:g.46876644C>T	ExAC,gnomAD
WNT9B	O14905	p.Gln336Ter	rs1426495015	stop gained	-	NC_000017.11:g.46876650C>T	gnomAD
WNT9B	O14905	p.Gln336Arg	rs1478398924	missense variant	-	NC_000017.11:g.46876651A>G	gnomAD
WNT9B	O14905	p.Trp337Arg	rs1219572383	missense variant	-	NC_000017.11:g.46876653T>C	TOPMed
WNT9B	O14905	p.Tyr340Cys	rs1334112263	missense variant	-	NC_000017.11:g.46876663A>G	gnomAD
WNT9B	O14905	p.Val341Met	rs144564507	missense variant	-	NC_000017.11:g.46876665G>A	1000Genomes,ESP,ExAC,gnomAD
WNT9B	O14905	p.Glu342Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46876668G>C	NCI-TCGA
WNT9B	O14905	p.Glu342Lys	rs1360393862	missense variant	-	NC_000017.11:g.46876668G>A	gnomAD
WNT9B	O14905	p.Cys343Ter	rs369515545	stop gained	-	NC_000017.11:g.46876673C>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gln348His	rs762563952	missense variant	-	NC_000017.11:g.46876688G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu349Lys	rs1229600520	missense variant	-	NC_000017.11:g.46876689G>A	TOPMed
WNT9B	O14905	p.Glu349Gly	rs751098377	missense variant	-	NC_000017.11:g.46876690A>G	ExAC
WNT9B	O14905	p.Leu351Pro	rs147655057	missense variant	-	NC_000017.11:g.46876696T>C	ESP,ExAC,gnomAD
WNT9B	O14905	p.Tyr353His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46876701T>C	NCI-TCGA
WNT9B	O14905	p.Arg2Cys	rs770723480	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680554C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg2Leu	rs926793763	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680555G>T	TOPMed
WNT9B	O14905	p.Pro3Ala	rs776196246	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680557C>G	ExAC,gnomAD
WNT9B	O14905	p.Pro4Ala	rs1170711309	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680560C>G	TOPMed
WNT9B	O14905	p.Pro5His	rs1027704788	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680564C>A	TOPMed,gnomAD
WNT9B	O14905	p.Leu7Met	rs1309316934	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680569C>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala8Thr	rs1350504389	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680572G>A	gnomAD
WNT9B	O14905	p.Ala8Ser	rs1350504389	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680572G>T	gnomAD
WNT9B	O14905	p.Ala10Ser	rs764676163	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680578G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly11Arg	rs1211142016	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680581G>A	TOPMed
WNT9B	O14905	p.Leu12Phe	rs1444167754	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680584C>T	TOPMed
WNT9B	O14905	p.Cys13Tyr	rs1306864439	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680588G>A	TOPMed,gnomAD
WNT9B	O14905	p.Cys13Ser	rs1306864439	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680588G>C	TOPMed,gnomAD
WNT9B	O14905	p.Ala16Glu	rs952008274	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680597C>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala20Thr	rs1316153769	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680608G>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala21Val	rs1220462634	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680612C>T	gnomAD
WNT9B	O14905	p.Ala21Ser	rs1359003442	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680611G>T	TOPMed,gnomAD
WNT9B	O14905	p.Ala21Thr	rs1359003442	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680611G>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala22Thr	rs924772476	missense variant	-	CHR_HSCHR17_2_CTG5:g.46680614G>A	TOPMed,gnomAD
WNT9B	O14905	p.Gly29Ala	rs1004145986	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701439G>C	TOPMed
WNT9B	O14905	p.Gly29Arg	rs147055144	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701438G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg30Gln	rs777511530	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701442G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg30Trp	rs770668925	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701441C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Leu33Pro	rs1248391615	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701451T>C	gnomAD
WNT9B	O14905	p.Thr34Met	rs770672150	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701454C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro35Leu	rs745497462	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701457C>T	ExAC,gnomAD
WNT9B	O14905	p.Pro37Ser	rs767745602	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701462C>T	TOPMed,gnomAD
WNT9B	O14905	p.Pro37Arg	rs769476033	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701463C>G	ExAC,gnomAD
WNT9B	O14905	p.Gly38Arg	rs775052722	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701465G>A	ExAC,gnomAD
WNT9B	O14905	p.Thr41Ser	rs1190238760	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701475C>G	TOPMed,gnomAD
WNT9B	O14905	p.Ala42Glu	rs574292371	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701478C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala42Val	rs574292371	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701478C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala42Thr	rs1419850821	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701477G>A	gnomAD
WNT9B	O14905	p.Ala44Thr	rs561750885	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701483G>A	1000Genomes,ExAC,gnomAD
WNT9B	O14905	p.Ala44Val	rs766830702	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701484C>T	ExAC,gnomAD
WNT9B	O14905	p.Pro45Thr	rs754298094	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701486C>A	ExAC,gnomAD
WNT9B	O14905	p.Pro45Leu	rs530502749	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701487C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro45Arg	rs530502749	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701487C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro45Gln	rs530502749	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701487C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gln47Arg	rs118185468	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701493A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly48Val	rs946269035	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701496G>T	TOPMed
WNT9B	O14905	p.Gly49Arg	rs777936396	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701498G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala50Val	rs780934556	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701502C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala50Thr	rs757232564	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701501G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.His51Arg	rs1321309486	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701505A>G	gnomAD
WNT9B	O14905	p.Lys53Arg	rs982203838	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701511A>G	TOPMed,gnomAD
WNT9B	O14905	p.Gln54His	rs200969361	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701515G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gln54Arg	rs779508447	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701514A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Asp56Glu	rs200148344	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701521C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Leu60Val	rs369919312	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701531C>G	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Leu60Pro	rs1368052360	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701532T>C	TOPMed
WNT9B	O14905	p.Arg62Trp	rs761237620	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701537C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg62Gln	rs138915734	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701538G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg62Leu	rs138915734	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701538G>T	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg62Gly	rs761237620	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701537C>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg63Trp	rs566511950	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701540C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg63Gln	rs149418183	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701541G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg69Trp	rs144844694	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701558C>T	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg69Gln	rs148393089	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701559G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro72Ser	rs1282713416	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701567C>T	gnomAD
WNT9B	O14905	p.Pro72His	rs751678375	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701568C>A	ExAC,gnomAD
WNT9B	O14905	p.Gly73Ser	rs781051102	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701570G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala75Asp	rs1213346885	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701577C>A	gnomAD
WNT9B	O14905	p.Thr77Asn	rs1266890005	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701583C>A	gnomAD
WNT9B	O14905	p.Asp80Asn	rs1266062625	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701591G>A	gnomAD
WNT9B	O14905	p.Ala81Thr	rs1466900903	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701594G>A	TOPMed
WNT9B	O14905	p.Ala82Glu	rs779923395	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701598C>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala82Thr	rs1001987910	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701597G>A	TOPMed
WNT9B	O14905	p.Ala82Val	rs779923395	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701598C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.His83Arg	rs768397514	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701601A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly85Ser	rs1367754683	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701606G>A	gnomAD
WNT9B	O14905	p.Leu87Phe	rs1425530655	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701612C>T	gnomAD
WNT9B	O14905	p.Glu88Gln	rs771718316	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701615G>C	ExAC,gnomAD
WNT9B	O14905	p.Gln90Arg	rs760149629	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701622A>G	ExAC,gnomAD
WNT9B	O14905	p.Gln90His	rs1280105309	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701623G>T	gnomAD
WNT9B	O14905	p.Gln92Ter	rs770001943	stop gained	-	CHR_HSCHR17_2_CTG5:g.46701627C>T	ExAC,gnomAD
WNT9B	O14905	p.Arg94Trp	rs775970973	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701633C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg94Gln	rs75199851	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701634G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.His95Arg	rs764444576	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701637A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu96Gly	rs761814917	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701640A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu96Lys	rs751625191	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701639G>A	ExAC,gnomAD
WNT9B	O14905	p.Arg97His	rs201223229	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701643G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg97Cys	rs1005356608	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701642C>T	gnomAD
WNT9B	O14905	p.Arg97Leu	rs201223229	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701643G>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Asn99Ser	rs766059492	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701649A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Asn99Lys	rs1387397358	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701650C>A	gnomAD
WNT9B	O14905	p.Ser101Asn	rs753736943	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701655G>A	ExAC
WNT9B	O14905	p.Gly104Ser	rs557683872	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701663G>A	1000Genomes,ExAC,gnomAD
WNT9B	O14905	p.Arg105Gly	rs145947242	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701666A>G	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg105Lys	rs1182092564	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701667G>A	TOPMed
WNT9B	O14905	p.Met106Arg	rs4968281	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701670T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Met106Ile	rs534003715	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701671G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Met106Thr	rs4968281	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701670T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly107Asp	rs1329606333	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701673G>A	TOPMed,gnomAD
WNT9B	O14905	p.Gly107Val	rs1329606333	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701673G>T	TOPMed,gnomAD
WNT9B	O14905	p.Arg111Ile	rs1418141548	missense variant	-	CHR_HSCHR17_2_CTG5:g.46701685G>T	TOPMed,gnomAD
WNT9B	O14905	p.Lys114Glu	rs1186584056	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704020A>G	TOPMed
WNT9B	O14905	p.Ala117Gly	rs751175581	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704030C>G	ExAC,gnomAD
WNT9B	O14905	p.Phe118Leu	rs761421453	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704032T>C	ExAC,gnomAD
WNT9B	O14905	p.Ala121Thr	rs749969946	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704041G>A	ExAC,gnomAD
WNT9B	O14905	p.Ala121Val	rs375739988	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704042C>T	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val122Ala	rs1392415275	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704045T>C	gnomAD
WNT9B	O14905	p.Ser123Cys	rs1328620420	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704048C>G	gnomAD
WNT9B	O14905	p.Ala126Thr	rs116126279	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704056G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr130Asn	rs371468509	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704069C>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Leu131Met	rs1242785878	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704071C>A	TOPMed,gnomAD
WNT9B	O14905	p.Arg133Trp	rs1004684045	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704077C>T	TOPMed
WNT9B	O14905	p.Arg133Leu	rs554846731	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704078G>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg133Gln	rs554846731	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704078G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Cys135Trp	rs1302127442	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704085C>G	TOPMed
WNT9B	O14905	p.Ala137Val	rs1462515354	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704090C>T	gnomAD
WNT9B	O14905	p.Ala137Thr	rs202125492	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704089G>A	1000Genomes,ExAC,gnomAD
WNT9B	O14905	p.Arg139Cys	rs1421685695	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704095C>T	gnomAD
WNT9B	O14905	p.Arg139Leu	rs774054853	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704096G>T	ExAC,gnomAD
WNT9B	O14905	p.Arg139His	rs774054853	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704096G>A	ExAC,gnomAD
WNT9B	O14905	p.Met140Leu	rs1267142310	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704098A>C	gnomAD
WNT9B	O14905	p.Met140Lys	rs767136208	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704099T>A	ExAC,gnomAD
WNT9B	O14905	p.Glu141Lys	rs1170545290	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704101G>A	gnomAD
WNT9B	O14905	p.Arg142Leu	rs1024072302	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704105G>T	TOPMed,gnomAD
WNT9B	O14905	p.Arg142His	rs1024072302	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704105G>A	TOPMed,gnomAD
WNT9B	O14905	p.Arg142Cys	rs769660426	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704104C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Asp147Glu	rs765909398	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704121C>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser148Phe	rs753150520	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704123C>T	ExAC,gnomAD
WNT9B	O14905	p.Pro149Leu	rs967098051	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704126C>T	TOPMed,gnomAD
WNT9B	O14905	p.Gly150Glu	rs764485687	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704129G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu152Lys	rs149949310	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704134G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser153Ile	rs757486834	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704138G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser153Thr	rs757486834	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704138G>C	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg154Pro	rs756222047	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704141G>C	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg154Trp	rs746091846	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704140C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg154Gln	rs756222047	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704141G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Trp159Cys	rs910262606	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704157G>C	TOPMed
WNT9B	O14905	p.Trp159Arg	rs768544945	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704155T>C	ExAC,gnomAD
WNT9B	O14905	p.Val161Leu	rs149119515	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704161G>C	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val161Glu	rs1412072667	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704162T>A	TOPMed
WNT9B	O14905	p.Val161Met	rs149119515	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704161G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Cys162Gly	rs1296121365	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704164T>G	TOPMed
WNT9B	O14905	p.Gly163Ser	rs772815552	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704167G>A	ExAC,gnomAD
WNT9B	O14905	p.Gly163Cys	rs772815552	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704167G>T	ExAC,gnomAD
WNT9B	O14905	p.Asp164Val	rs1422190478	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704171A>T	gnomAD
WNT9B	O14905	p.Ser169Asn	rs765849480	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704186G>A	ExAC,gnomAD
WNT9B	O14905	p.Ser169Gly	rs760338760	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704185A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr170Ile	rs776156211	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704189C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Lys171Glu	rs1399535819	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704191A>G	gnomAD
WNT9B	O14905	p.Phe172Leu	rs1276383999	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704196T>A	gnomAD
WNT9B	O14905	p.Ser174Arg	rs73987096	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704202C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg181Ile	rs764565715	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704222G>T	ExAC,gnomAD
WNT9B	O14905	p.Asn183Lys	rs370511554	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704229C>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Lys184Asn	rs757496576	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704232G>C	ExAC,gnomAD
WNT9B	O14905	p.Asp185Asn	rs768024851	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704233G>A	ExAC,gnomAD
WNT9B	O14905	p.Asp185Glu	rs115421139	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704235C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg187Trp	rs200104547	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704239C>T	ExAC
WNT9B	O14905	p.Arg187Gln	rs1213829551	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704240G>A	TOPMed,gnomAD
WNT9B	O14905	p.Ala188Thr	rs1270343087	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704242G>A	gnomAD
WNT9B	O14905	p.Arg189Gly	rs147677642	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704245C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg189Gln	rs568737032	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704246G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg189Trp	rs147677642	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704245C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg189Leu	rs568737032	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704246G>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala190Glu	rs1431848216	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704249C>A	gnomAD
WNT9B	O14905	p.Ala190Gly	rs1431848216	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704249C>G	gnomAD
WNT9B	O14905	p.Asp191Glu	rs142428656	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704253C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala192Thr	rs188845108	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704254G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.His193Arg	rs1419261201	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704258A>G	gnomAD
WNT9B	O14905	p.Asn194Ser	rs746637340	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704261A>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr195Ala	rs770639789	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704263A>G	ExAC,gnomAD
WNT9B	O14905	p.Val197Met	rs201480547	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704269G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val197Leu	rs201480547	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704269G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly198Val	rs1365381549	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704273G>T	gnomAD
WNT9B	O14905	p.Gly198Asp	rs1365381549	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704273G>A	gnomAD
WNT9B	O14905	p.Ile199Met	rs762405316	missense variant	-	CHR_HSCHR17_2_CTG5:g.46704277C>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val202Met	rs1399426717	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705162G>A	gnomAD
WNT9B	O14905	p.Ser204Arg	rs1338447518	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705170T>G	gnomAD
WNT9B	O14905	p.Ser204Asn	rs148340304	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705169G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr209Met	rs752892527	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705184C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val215Leu	rs781063224	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705201G>C	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val215Ile	rs781063224	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705201G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Val215Ala	rs1259325946	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705202T>C	gnomAD
WNT9B	O14905	p.Val221Met	rs372115656	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705219G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg222His	rs138314634	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705223G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg222Ser	rs773812928	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705222C>A	ExAC,gnomAD
WNT9B	O14905	p.Arg222Leu	rs138314634	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705223G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg222Cys	rs773812928	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705222C>T	ExAC,gnomAD
WNT9B	O14905	p.Thr223Ile	rs777098128	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705226C>T	ExAC,gnomAD
WNT9B	O14905	p.Cys224Ser	rs1422908876	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705228T>A	gnomAD
WNT9B	O14905	p.Gln227His	rs759676285	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705239G>C	ExAC,gnomAD
WNT9B	O14905	p.Gln227Arg	rs1295884388	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705238A>G	TOPMed
WNT9B	O14905	p.Pro230Arg	rs765555952	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705247C>G	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro230Leu	rs765555952	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705247C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg232Pro	rs376925107	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705253G>C	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg232Cys	rs1413589890	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705252C>T	gnomAD
WNT9B	O14905	p.Arg232His	rs376925107	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705253G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Thr234Met	rs139124897	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg241Cys	rs913178601	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705279C>T	TOPMed,gnomAD
WNT9B	O14905	p.Arg241His	rs138530379	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705280G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser244Leu	rs115163288	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705289C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser244Trp	rs115163288	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705289C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala245Ser	rs1200217714	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705291G>T	gnomAD
WNT9B	O14905	p.Val246Ile	rs748976950	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705294G>A	ExAC,gnomAD
WNT9B	O14905	p.Val246Leu	rs748976950	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705294G>C	ExAC,gnomAD
WNT9B	O14905	p.Val248Leu	rs1245476858	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705300G>T	TOPMed
WNT9B	O14905	p.Ala251Val	rs778611375	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705310C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu254Gly	rs1269239953	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705319A>G	TOPMed
WNT9B	O14905	p.Arg258Cys	rs771539878	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705330C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg258His	rs149931425	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg258Leu	rs149931425	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705331G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu260Gln	rs1390279271	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705336G>C	TOPMed
WNT9B	O14905	p.Trp262Cys	rs770061645	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705344G>T	ExAC,gnomAD
WNT9B	O14905	p.Ala263Gly	rs564435829	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705346C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala263Asp	rs564435829	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705346C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala265Val	rs763186608	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705352C>T	ExAC,gnomAD
WNT9B	O14905	p.Gln267His	rs368406991	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705359G>C	ESP,ExAC,gnomAD
WNT9B	O14905	p.Gly268Asp	rs533419961	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705361G>A	1000Genomes,gnomAD
WNT9B	O14905	p.Ser269Thr	rs1450443579	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705364G>C	TOPMed
WNT9B	O14905	p.Thr271Ser	rs1233061377	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705370C>G	gnomAD
WNT9B	O14905	p.Thr271Ala	rs142604963	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705369A>G	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala275Val	rs755897150	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705382C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala275Thr	rs750331067	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705381G>A	ExAC,gnomAD
WNT9B	O14905	p.Arg277Ser	rs766108370	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705389G>C	ExAC,gnomAD
WNT9B	O14905	p.Ser278Thr	rs1268042201	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705390T>A	gnomAD
WNT9B	O14905	p.Tyr283Asn	rs1196489495	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705405T>A	gnomAD
WNT9B	O14905	p.Met284Val	rs886733407	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705408A>G	TOPMed
WNT9B	O14905	p.Met284Thr	rs1439951991	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705409T>C	gnomAD
WNT9B	O14905	p.Pro288Leu	rs1182286577	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705421C>T	TOPMed
WNT9B	O14905	p.Ser289Asn	rs754714809	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705424G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg292Gln	rs139617595	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705433G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg292Trp	rs778566187	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705432C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Pro293Ser	rs781676873	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705435C>T	ExAC,gnomAD
WNT9B	O14905	p.Ser294Asn	rs770148152	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705439G>A	ExAC,gnomAD
WNT9B	O14905	p.Tyr296His	rs1447945897	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705444T>C	gnomAD
WNT9B	O14905	p.Ser297Leu	rs1258557774	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705448C>T	TOPMed
WNT9B	O14905	p.Pro298Ser	rs749481197	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705450C>T	ExAC,gnomAD
WNT9B	O14905	p.Pro298Leu	rs1239051089	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705451C>T	TOPMed
WNT9B	O14905	p.Arg303Ser	rs768924139	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705467G>T	ExAC
WNT9B	O14905	p.Cys305Tyr	rs1351772149	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705472G>A	gnomAD
WNT9B	O14905	p.Cys305Ter	rs1035869031	stop gained	-	CHR_HSCHR17_2_CTG5:g.46705473C>A	TOPMed
WNT9B	O14905	p.Ser306Tyr	rs1243156507	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705475C>A	TOPMed
WNT9B	O14905	p.Arg307Gln	rs528217802	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705478G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg307Trp	rs146452687	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705477C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu308Gly	rs772073215	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705481A>G	ExAC,gnomAD
WNT9B	O14905	p.Ser310Asn	rs1252538009	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705487G>A	gnomAD
WNT9B	O14905	p.Ser310Gly	rs773150977	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705486A>G	ExAC,gnomAD
WNT9B	O14905	p.Cys311Tyr	rs1383675976	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705490G>A	TOPMed
WNT9B	O14905	p.Ser313Ile	rs760575637	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705496G>T	ExAC,gnomAD
WNT9B	O14905	p.Gly317Arg	rs753748759	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705507G>C	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gly317Arg	rs753748759	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705507G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg318Trp	rs759252167	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705510C>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg318Gln	rs375590479	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705511G>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg318Pro	rs375590479	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705511G>C	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Tyr320Cys	rs1457871744	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705517A>G	gnomAD
WNT9B	O14905	p.Thr322Ser	rs548293670	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705523C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ser324Gly	rs777170957	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705528A>G	ExAC,gnomAD
WNT9B	O14905	p.Arg325Leu	rs756619453	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705532G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg325His	rs756619453	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705532G>A	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Arg325Cys	rs369957679	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705531C>T	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Ala328Val	rs779065433	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705541C>T	ExAC,gnomAD
WNT9B	O14905	p.Ala328Ser	rs769012279	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705540G>T	ExAC,gnomAD
WNT9B	O14905	p.Ser330Pro	rs201736628	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705546T>C	ExAC,gnomAD
WNT9B	O14905	p.Ser330Cys	rs1490394741	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705547C>G	TOPMed
WNT9B	O14905	p.His332Tyr	rs1293520975	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705552C>T	TOPMed
WNT9B	O14905	p.Cys333Phe	rs1182041002	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705556G>T	gnomAD
WNT9B	O14905	p.Gln334His	rs760652296	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705560G>C	ExAC,gnomAD
WNT9B	O14905	p.Gln334Ter	rs773201960	stop gained	-	CHR_HSCHR17_2_CTG5:g.46705558C>T	ExAC,gnomAD
WNT9B	O14905	p.Gln336Arg	rs1478398924	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705565A>G	gnomAD
WNT9B	O14905	p.Gln336Ter	rs1426495015	stop gained	-	CHR_HSCHR17_2_CTG5:g.46705564C>T	gnomAD
WNT9B	O14905	p.Trp337Arg	rs1219572383	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705567T>C	TOPMed
WNT9B	O14905	p.Tyr340Cys	rs1334112263	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705577A>G	gnomAD
WNT9B	O14905	p.Val341Met	rs144564507	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705579G>A	1000Genomes,ESP,ExAC,gnomAD
WNT9B	O14905	p.Glu342Lys	rs1360393862	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705582G>A	gnomAD
WNT9B	O14905	p.Cys343Ter	rs369515545	stop gained	-	CHR_HSCHR17_2_CTG5:g.46705587C>A	ESP,ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Gln348His	rs762563952	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705602G>T	ExAC,TOPMed,gnomAD
WNT9B	O14905	p.Glu349Lys	rs1229600520	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705603G>A	TOPMed
WNT9B	O14905	p.Glu349Gly	rs751098377	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705604A>G	ExAC
WNT9B	O14905	p.Leu351Pro	rs147655057	missense variant	-	CHR_HSCHR17_2_CTG5:g.46705610T>C	ESP,ExAC,gnomAD
SEC16A	O15027	p.Gln2Arg	rs1431181898	missense variant	-	NC_000009.12:g.136477611T>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro3Ala	rs998326444	missense variant	-	NC_000009.12:g.136477609G>C	TOPMed
SEC16A	O15027	p.Pro4Leu	rs374538919	missense variant	-	NC_000009.12:g.136477605G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro4Thr	rs1002649262	missense variant	-	NC_000009.12:g.136477606G>T	TOPMed
SEC16A	O15027	p.Pro4Gln	rs374538919	missense variant	-	NC_000009.12:g.136477605G>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro5Ser	rs1426522680	missense variant	-	NC_000009.12:g.136477603G>A	gnomAD
SEC16A	O15027	p.Gln6His	rs1429871544	missense variant	-	NC_000009.12:g.136477598C>G	TOPMed
SEC16A	O15027	p.Thr7Met	rs547371244	missense variant	-	NC_000009.12:g.136477596G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro9Leu	rs766762584	missense variant	-	NC_000009.12:g.136477590G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser10Phe	rs773536159	missense variant	-	NC_000009.12:g.136477587G>A	ExAC,gnomAD
SEC16A	O15027	p.Gly11Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136477585C>A	NCI-TCGA
SEC16A	O15027	p.Met12Val	rs772156928	missense variant	-	NC_000009.12:g.136477582T>C	ExAC,gnomAD
SEC16A	O15027	p.Met12Thr	rs748329524	missense variant	-	NC_000009.12:g.136477581A>G	ExAC,gnomAD
SEC16A	O15027	p.Ala13Val	rs1192100850	missense variant	-	NC_000009.12:g.136477578G>A	gnomAD
SEC16A	O15027	p.Gly14Arg	rs768786817	missense variant	-	NC_000009.12:g.136477576C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro15Leu	rs561436017	missense variant	-	NC_000009.12:g.136477572G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro15Ser	rs528913451	missense variant	-	NC_000009.12:g.136477573G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro16Ser	rs184501717	missense variant	-	NC_000009.12:g.136477570G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala18Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136477564C>T	NCI-TCGA
SEC16A	O15027	p.Ala18Gly	rs746750207	missense variant	-	NC_000009.12:g.136477563G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala18Val	rs746750207	missense variant	-	NC_000009.12:g.136477563G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly19Arg	rs575810885	missense variant	-	NC_000009.12:g.136477561C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn20Lys	rs376248122	missense variant	-	NC_000009.12:g.136477556A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro21Leu	rs1432394157	missense variant	-	NC_000009.12:g.136477554G>A	TOPMed
SEC16A	O15027	p.Arg22Gln	rs754445552	missense variant	-	NC_000009.12:g.136477551C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val24Met	rs766852818	missense variant	-	NC_000009.12:g.136477546C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Phe25Leu	rs1172764877	missense variant	-	NC_000009.12:g.136477541G>T	gnomAD
SEC16A	O15027	p.Ala27Thr	rs1426220899	missense variant	-	NC_000009.12:g.136477537C>T	TOPMed
SEC16A	O15027	p.Ala27Val	rs761144885	missense variant	-	NC_000009.12:g.136477536G>A	ExAC,gnomAD
SEC16A	O15027	p.Ser29Thr	rs750752419	missense variant	-	NC_000009.12:g.136477530C>G	ExAC,gnomAD
SEC16A	O15027	p.Ser29Arg	rs767839631	missense variant	-	NC_000009.12:g.136477529G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg32Lys	rs1234159305	missense variant	-	NC_000009.12:g.136477521C>T	gnomAD
SEC16A	O15027	p.Arg33Ile	rs768876520	missense variant	-	NC_000009.12:g.136477518C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg33Thr	rs768876520	missense variant	-	NC_000009.12:g.136477518C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg34Trp	rs776749643	missense variant	-	NC_000009.12:g.136477516G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg34Gln	rs372746219	missense variant	-	NC_000009.12:g.136477515C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala35Asp	rs746878163	missense variant	-	NC_000009.12:g.136477512G>T	ExAC,gnomAD
SEC16A	O15027	p.Asn36Thr	rs771834593	missense variant	-	NC_000009.12:g.136477509T>G	ExAC,gnomAD
SEC16A	O15027	p.Asn36Asp	rs777440253	missense variant	-	NC_000009.12:g.136477510T>C	ExAC,gnomAD
SEC16A	O15027	p.Asn37Asp	rs778489166	missense variant	-	NC_000009.12:g.136477507T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn38Thr	rs1399757070	missense variant	-	NC_000009.12:g.136477503T>G	gnomAD
SEC16A	O15027	p.Asn38Ser	rs1399757070	missense variant	-	NC_000009.12:g.136477503T>C	gnomAD
SEC16A	O15027	p.Ala40Val	rs1340154607	missense variant	-	NC_000009.12:g.136477497G>A	TOPMed
SEC16A	O15027	p.Ala42Ser	rs1266298286	missense variant	-	NC_000009.12:g.136477492C>A	TOPMed
SEC16A	O15027	p.Ala42Gly	rs753318947	missense variant	-	NC_000009.12:g.136477491G>C	ExAC,gnomAD
SEC16A	O15027	p.Pro43Leu	rs144088895	missense variant	-	NC_000009.12:g.136477488G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr45Ala	rs894041114	missense variant	-	NC_000009.12:g.136477483T>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro47Leu	rs535860907	missense variant	-	NC_000009.12:g.136477476G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln49Leu	rs775698006	missense variant	-	NC_000009.12:g.136477470T>A	ExAC
SEC16A	O15027	p.Pro50Leu	rs369124445	missense variant	-	NC_000009.12:g.136477467G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro50Arg	rs369124445	missense variant	-	NC_000009.12:g.136477467G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro50Gln	rs369124445	missense variant	-	NC_000009.12:g.136477467G>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val51Leu	rs771786676	missense variant	-	NC_000009.12:g.136477465C>G	ExAC,gnomAD
SEC16A	O15027	p.Thr52Met	rs778580994	missense variant	-	NC_000009.12:g.136477461G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr52Arg	rs778580994	missense variant	-	NC_000009.12:g.136477461G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp53Ala	rs1224393412	missense variant	-	NC_000009.12:g.136477458T>G	gnomAD
SEC16A	O15027	p.Asp53Asn	COSM3655777	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477459C>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Ala56Thr	rs1209144461	missense variant	-	NC_000009.12:g.136477450C>T	TOPMed,gnomAD
SEC16A	O15027	p.Ala56Ser	rs1209144461	missense variant	-	NC_000009.12:g.136477450C>A	TOPMed,gnomAD
SEC16A	O15027	p.Gln60His	rs199506231	missense variant	-	NC_000009.12:g.136477436C>A	gnomAD
SEC16A	O15027	p.Ala61Thr	rs778891118	missense variant	-	NC_000009.12:g.136477435C>T	gnomAD
SEC16A	O15027	p.Ala61Gly	rs779447176	missense variant	-	NC_000009.12:g.136477434G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala61Val	rs779447176	missense variant	-	NC_000009.12:g.136477434G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln63Arg	rs1464860459	missense variant	-	NC_000009.12:g.136477428T>C	gnomAD
SEC16A	O15027	p.Ser64Asn	rs377167903	missense variant	-	NC_000009.12:g.136477425C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser64Gly	rs1242654938	missense variant	-	NC_000009.12:g.136477426T>C	gnomAD
SEC16A	O15027	p.Thr65Ile	rs1014237623	missense variant	-	NC_000009.12:g.136477422G>A	gnomAD
SEC16A	O15027	p.Pro66Gln	rs757733601	missense variant	-	NC_000009.12:g.136477419G>T	ExAC,gnomAD
SEC16A	O15027	p.Leu67Val	rs369467716	missense variant	-	NC_000009.12:g.136477417G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser70Leu	rs902818908	missense variant	-	NC_000009.12:g.136477407G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ser74Gly	rs765265061	missense variant	-	NC_000009.12:g.136477396T>C	ExAC,gnomAD
SEC16A	O15027	p.Gln79Ter	rs1353045570	stop gained	-	NC_000009.12:g.136477381G>A	gnomAD
SEC16A	O15027	p.Gln79Pro	rs759614227	missense variant	-	NC_000009.12:g.136477380T>G	ExAC,gnomAD
SEC16A	O15027	p.Gly80Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136477377C>T	NCI-TCGA
SEC16A	O15027	p.Ala82Val	rs773072929	missense variant	-	NC_000009.12:g.136477371G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala84Thr	rs201448916	missense variant	-	NC_000009.12:g.136477366C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala84Glu	rs774122882	missense variant	-	NC_000009.12:g.136477365G>T	ExAC,gnomAD
SEC16A	O15027	p.Gly85Arg	rs768384261	missense variant	-	NC_000009.12:g.136477363C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly85Glu	rs1164892381	missense variant	-	NC_000009.12:g.136477362C>T	gnomAD
SEC16A	O15027	p.Gln88Ter	COSM4834399	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136477354G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gln88His	rs374108015	missense variant	-	NC_000009.12:g.136477352C>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His89Tyr	rs769233951	missense variant	-	NC_000009.12:g.136477351G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His89Leu	rs1430051005	missense variant	-	NC_000009.12:g.136477350T>A	gnomAD
SEC16A	O15027	p.His89Asn	rs769233951	missense variant	-	NC_000009.12:g.136477351G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro90Ala	rs1262226671	missense variant	-	NC_000009.12:g.136477348G>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro90Ser	rs1262226671	missense variant	-	NC_000009.12:g.136477348G>A	TOPMed,gnomAD
SEC16A	O15027	p.Gly91Ser	rs745347813	missense variant	-	NC_000009.12:g.136477345C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly91Ala	rs1270963861	missense variant	-	NC_000009.12:g.136477344C>G	gnomAD
SEC16A	O15027	p.Leu92Phe	rs371655852	missense variant	-	NC_000009.12:g.136477340C>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu93Val	rs1265083041	missense variant	-	NC_000009.12:g.136477339G>C	gnomAD
SEC16A	O15027	p.Val94Ile	rs982633320	missense variant	-	NC_000009.12:g.136477336C>T	TOPMed
SEC16A	O15027	p.Thr97Ile	rs1309613550	missense variant	-	NC_000009.12:g.136477326G>A	gnomAD
SEC16A	O15027	p.Thr97Lys	rs1309613550	missense variant	-	NC_000009.12:g.136477326G>T	gnomAD
SEC16A	O15027	p.His98Arg	rs778284428	missense variant	-	NC_000009.12:g.136477323T>C	ExAC,gnomAD
SEC16A	O15027	p.Arg100Gly	rs552755205	missense variant	-	NC_000009.12:g.136477318T>C	1000Genomes,TOPMed
SEC16A	O15027	p.Arg100Lys	rs1399814318	missense variant	-	NC_000009.12:g.136477317C>T	gnomAD
SEC16A	O15027	p.Asp101Asn	rs1040739370	missense variant	-	NC_000009.12:g.136477315C>T	gnomAD
SEC16A	O15027	p.Asp101Tyr	rs1040739370	missense variant	-	NC_000009.12:g.136477315C>A	gnomAD
SEC16A	O15027	p.Ser103Cys	rs1305503325	missense variant	-	NC_000009.12:g.136477308G>C	gnomAD
SEC16A	O15027	p.Gln104Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.136477306G>A	NCI-TCGA
SEC16A	O15027	p.Pro106His	rs565949028	missense variant	-	NC_000009.12:g.136477299G>T	gnomAD
SEC16A	O15027	p.Pro106Leu	rs565949028	missense variant	-	NC_000009.12:g.136477299G>A	gnomAD
SEC16A	O15027	p.Pro106Ser	COSM3655775	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477300G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Cys107Arg	rs758794202	missense variant	-	NC_000009.12:g.136477297A>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro109Leu	rs867171107	missense variant	-	NC_000009.12:g.136477290G>A	TOPMed
SEC16A	O15027	p.Gly112Arg	rs752886068	missense variant	-	NC_000009.12:g.136477282C>T	ExAC,gnomAD
SEC16A	O15027	p.Gln116Arg	rs1373319331	missense variant	-	NC_000009.12:g.136477269T>C	gnomAD
SEC16A	O15027	p.Pro117Leu	rs976840314	missense variant	-	NC_000009.12:g.136477266G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro117Arg	rs976840314	missense variant	-	NC_000009.12:g.136477266G>C	TOPMed,gnomAD
SEC16A	O15027	p.Arg118Lys	rs765477873	missense variant	-	NC_000009.12:g.136477263C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala119Ser	rs755054480	missense variant	-	NC_000009.12:g.136477261C>A	ExAC,gnomAD
SEC16A	O15027	p.His120Arg	rs753951155	missense variant	-	NC_000009.12:g.136477257T>C	ExAC,gnomAD
SEC16A	O15027	p.Ala121Thr	rs767504823	missense variant	-	NC_000009.12:g.136477255C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala121Val	rs1266829730	missense variant	-	NC_000009.12:g.136477254G>A	gnomAD
SEC16A	O15027	p.Ser122Arg	rs374460252	missense variant	-	NC_000009.12:g.136477252T>G	ESP,ExAC,TOPMed
SEC16A	O15027	p.Pro123Leu	rs371074782	missense variant	-	NC_000009.12:g.136477248G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro123Ser	rs774210550	missense variant	-	NC_000009.12:g.136477249G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala127Val	rs769480501	missense variant	-	NC_000009.12:g.136477236G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala127Pro	rs775041010	missense variant	-	NC_000009.12:g.136477237C>G	ExAC,gnomAD
SEC16A	O15027	p.Leu128Val	rs373239822	missense variant	-	NC_000009.12:g.136477234A>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu128Trp	COSM3375175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477233A>C	NCI-TCGA Cosmic
SEC16A	O15027	p.Thr129Ile	rs747548314	missense variant	-	NC_000009.12:g.136477230G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro130Ser	rs368742953	missense variant	-	NC_000009.12:g.136477228G>A	ESP,ExAC,gnomAD
SEC16A	O15027	p.Pro130Leu	rs758884334	missense variant	-	NC_000009.12:g.136477227G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro133Arg	rs958420028	missense variant	-	NC_000009.12:g.136477218G>C	TOPMed
SEC16A	O15027	p.Pro133Ala	rs1011095072	missense variant	-	NC_000009.12:g.136477219G>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro134Arg	rs1463866187	missense variant	-	NC_000009.12:g.136477215G>C	TOPMed,gnomAD
SEC16A	O15027	p.Gly135Glu	rs779072205	missense variant	-	NC_000009.12:g.136477212C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro136LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136477209G>-	NCI-TCGA
SEC16A	O15027	p.Pro136Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136477210G>A	NCI-TCGA
SEC16A	O15027	p.Glu137Gln	rs999737313	missense variant	-	NC_000009.12:g.136477207C>G	TOPMed
SEC16A	O15027	p.Met138Ile	COSM3905735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477202C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Asn139Ser	rs755219079	missense variant	-	NC_000009.12:g.136477200T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn139Asp	rs1477631047	missense variant	-	NC_000009.12:g.136477201T>C	gnomAD
SEC16A	O15027	p.Arg140Ser	rs375110996	missense variant	-	NC_000009.12:g.136477196C>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg140Ser	rs375110996	missense variant	-	NC_000009.12:g.136477196C>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser141Gly	rs780115901	missense variant	-	NC_000009.12:g.136477195T>C	ExAC,gnomAD
SEC16A	O15027	p.Ser141Asn	rs1239008204	missense variant	-	NC_000009.12:g.136477194C>T	gnomAD
SEC16A	O15027	p.Glu143Lys	rs756149791	missense variant	-	NC_000009.12:g.136477189C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly145Arg	rs762718838	missense variant	-	NC_000009.12:g.136477183C>G	ExAC,gnomAD
SEC16A	O15027	p.Gly145Ser	rs762718838	missense variant	-	NC_000009.12:g.136477183C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly145Val	rs752520572	missense variant	-	NC_000009.12:g.136477182C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro146Ser	rs1273589715	missense variant	-	NC_000009.12:g.136477180G>A	gnomAD
SEC16A	O15027	p.Glu149Asp	rs781636539	missense variant	-	NC_000009.12:g.136477169C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu149Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136477171C>T	NCI-TCGA
SEC16A	O15027	p.Pro150Ser	rs567160130	missense variant	-	NC_000009.12:g.136477168G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val152Ile	rs1407877942	missense variant	-	NC_000009.12:g.136477162C>T	gnomAD
SEC16A	O15027	p.Gln153His	rs760241782	missense variant	-	NC_000009.12:g.136477157C>G	ExAC,gnomAD
SEC16A	O15027	p.Gln153His	rs760241782	missense variant	-	NC_000009.12:g.136477157C>A	ExAC,gnomAD
SEC16A	O15027	p.Thr154Pro	rs773898627	missense variant	-	NC_000009.12:g.136477156T>G	ExAC,gnomAD
SEC16A	O15027	p.Leu155Pro	rs748522586	missense variant	-	NC_000009.12:g.136477152A>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro156Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136477150G>A	NCI-TCGA
SEC16A	O15027	p.Leu158Phe	rs1381050697	missense variant	-	NC_000009.12:g.136477144G>A	gnomAD
SEC16A	O15027	p.Pro159Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136477141G>T	NCI-TCGA
SEC16A	O15027	p.His160Arg	rs768839223	missense variant	-	NC_000009.12:g.136477137T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr161Asp	rs1438017801	missense variant	-	NC_000009.12:g.136477135A>C	gnomAD
SEC16A	O15027	p.Tyr161Cys	rs749559227	missense variant	-	NC_000009.12:g.136477134T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ile162Val	rs1188606960	missense variant	-	NC_000009.12:g.136477132T>C	gnomAD
SEC16A	O15027	p.Pro163Gln	rs1206745109	missense variant	-	NC_000009.12:g.136477128G>T	TOPMed
SEC16A	O15027	p.Val165Leu	rs777741995	missense variant	-	NC_000009.12:g.136477123C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val165Met	rs777741995	missense variant	-	NC_000009.12:g.136477123C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val165Leu	rs777741995	missense variant	-	NC_000009.12:g.136477123C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr169Met	rs7852966	missense variant	-	NC_000009.12:g.136477110G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly173Cys	rs765110036	missense variant	-	NC_000009.12:g.136477099C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His174Pro	rs759201849	missense variant	-	NC_000009.12:g.136477095T>G	ExAC,gnomAD
SEC16A	O15027	p.Pro175Arg	rs753596031	missense variant	-	NC_000009.12:g.136477092G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro175Ser	rs909672724	missense variant	-	NC_000009.12:g.136477093G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro175Leu	rs753596031	missense variant	-	NC_000009.12:g.136477092G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His176Gln	rs760327904	missense variant	-	NC_000009.12:g.136477088A>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly177Glu	rs1420177426	missense variant	-	NC_000009.12:g.136477086C>T	gnomAD
SEC16A	O15027	p.Gly177Arg	rs1320178729	missense variant	-	NC_000009.12:g.136477087C>T	gnomAD
SEC16A	O15027	p.Met179Val	rs772836738	missense variant	-	NC_000009.12:g.136477081T>C	ExAC,gnomAD
SEC16A	O15027	p.Met179Ile	rs771429201	missense variant	-	NC_000009.12:g.136477079C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly181Glu	rs549448822	missense variant	-	NC_000009.12:g.136477074C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp183Tyr	rs1472654661	missense variant	-	NC_000009.12:g.136477069C>A	gnomAD
SEC16A	O15027	p.Arg184Gln	rs769090348	missense variant	-	NC_000009.12:g.136477065C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro185Ser	rs1395973457	missense variant	-	NC_000009.12:g.136477063G>A	gnomAD
SEC16A	O15027	p.Leu186Pro	rs976703139	missense variant	-	NC_000009.12:g.136477059A>G	TOPMed,gnomAD
SEC16A	O15027	p.Leu186Arg	rs976703139	missense variant	-	NC_000009.12:g.136477059A>C	TOPMed,gnomAD
SEC16A	O15027	p.Ser187Asn	rs1213750860	missense variant	-	NC_000009.12:g.136477056C>T	gnomAD
SEC16A	O15027	p.Ser187Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136477056C>A	NCI-TCGA
SEC16A	O15027	p.Arg188Ser	rs1361049452	missense variant	-	NC_000009.12:g.136477052C>A	gnomAD
SEC16A	O15027	p.Asn190Lys	rs1290143111	missense variant	-	NC_000009.12:g.136477046G>C	gnomAD
SEC16A	O15027	p.His192Arg	rs1227427813	missense variant	-	NC_000009.12:g.136477041T>C	gnomAD
SEC16A	O15027	p.Asp193Ter	COSM5096437	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136477039_136477040insA	NCI-TCGA Cosmic
SEC16A	O15027	p.Gly194Asp	rs746028039	missense variant	-	NC_000009.12:g.136477035C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly194Ser	rs769986943	missense variant	-	NC_000009.12:g.136477036C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro198Ala	rs748137309	missense variant	-	NC_000009.12:g.136477024G>C	ExAC,gnomAD
SEC16A	O15027	p.Ala199Val	COSM1106841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477020G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ala200Val	COSM3996440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477017G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ser201Cys	rs778692163	missense variant	-	NC_000009.12:g.136477014G>C	ExAC,gnomAD
SEC16A	O15027	p.Pro202Ser	rs754842293	missense variant	-	NC_000009.12:g.136477012G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro205Ser	COSM3655769	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136477003G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gln206His	rs766194805	missense variant	-	NC_000009.12:g.136476998C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln206His	rs766194805	missense variant	-	NC_000009.12:g.136476998C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro207Ser	rs139432783	missense variant	-	NC_000009.12:g.136476997G>A	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Leu209Val	rs1359478994	missense variant	-	NC_000009.12:g.136476991G>C	TOPMed,gnomAD
SEC16A	O15027	p.Met211Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476983C>G	NCI-TCGA
SEC16A	O15027	p.Met211Leu	rs958235841	missense variant	-	NC_000009.12:g.136476985T>G	TOPMed
SEC16A	O15027	p.Gly213Val	rs1423521250	missense variant	-	NC_000009.12:g.136476978C>A	gnomAD
SEC16A	O15027	p.Gly213Val	rs1423521250	missense variant	-	NC_000009.12:g.136476978C>A	NCI-TCGA
SEC16A	O15027	p.Gln214Arg	rs978372255	missense variant	-	NC_000009.12:g.136476975T>C	TOPMed,gnomAD
SEC16A	O15027	p.Gly216Arg	rs545983519	missense variant	-	NC_000009.12:g.136476970C>G	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Gly216Glu	rs1220226278	missense variant	-	NC_000009.12:g.136476969C>T	gnomAD
SEC16A	O15027	p.Pro217Leu	rs761183998	missense variant	-	NC_000009.12:g.136476966G>A	ExAC,gnomAD
SEC16A	O15027	p.Val218Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476963A>C	NCI-TCGA
SEC16A	O15027	p.Gly221Asp	rs775843580	missense variant	-	NC_000009.12:g.136476954C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly221Ala	rs775843580	missense variant	-	NC_000009.12:g.136476954C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro222Arg	rs1435858684	missense variant	-	NC_000009.12:g.136476951G>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro222Ser	rs746118290	missense variant	-	NC_000009.12:g.136476952G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro222Leu	rs1435858684	missense variant	-	NC_000009.12:g.136476951G>A	TOPMed,gnomAD
SEC16A	O15027	p.Gln223Glu	rs771090543	missense variant	-	NC_000009.12:g.136476949G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro224Ser	rs747030265	missense variant	-	NC_000009.12:g.136476946G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro224Leu	rs560387522	missense variant	-	NC_000009.12:g.136476945G>A	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Pro224His	rs560387522	missense variant	-	NC_000009.12:g.136476945G>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Ser225Leu	rs749181626	missense variant	-	NC_000009.12:g.136476942G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser225Trp	rs749181626	missense variant	-	NC_000009.12:g.136476942G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly226Glu	rs1426488301	missense variant	-	NC_000009.12:g.136476939C>T	gnomAD
SEC16A	O15027	p.His228Arg	rs1198924963	missense variant	-	NC_000009.12:g.136476933T>C	TOPMed,gnomAD
SEC16A	O15027	p.His228Tyr	rs542191614	missense variant	-	NC_000009.12:g.136476934G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His228Asp	rs542191614	missense variant	-	NC_000009.12:g.136476934G>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg229Leu	rs751016125	missense variant	-	NC_000009.12:g.136476930C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg229Pro	rs751016125	missense variant	-	NC_000009.12:g.136476930C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg229Cys	rs756854879	missense variant	-	NC_000009.12:g.136476931G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg229Ser	rs756854879	missense variant	-	NC_000009.12:g.136476931G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser230Leu	rs1205368851	missense variant	-	NC_000009.12:g.136476927G>A	gnomAD
SEC16A	O15027	p.Pro231Thr	COSM5087552	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476925G>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Cys232Tyr	rs757813112	missense variant	-	NC_000009.12:g.136476921C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro233Arg	rs969871585	missense variant	-	NC_000009.12:g.136476918G>C	gnomAD
SEC16A	O15027	p.Pro233Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476919G>A	NCI-TCGA
SEC16A	O15027	p.Pro233Leu	rs969871585	missense variant	-	NC_000009.12:g.136476918G>A	gnomAD
SEC16A	O15027	p.Glu234Ter	COSM422444	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136476916C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Pro236Ala	rs369856596	missense variant	-	NC_000009.12:g.136476910G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val237Ile	rs1311701360	missense variant	-	NC_000009.12:g.136476907C>T	TOPMed,gnomAD
SEC16A	O15027	p.Val237Phe	rs1311701360	missense variant	-	NC_000009.12:g.136476907C>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro238Ser	COSM3655767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476904G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ser239Asn	rs759871033	missense variant	-	NC_000009.12:g.136476900C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser239Cys	rs992083744	missense variant	-	NC_000009.12:g.136476901T>A	gnomAD
SEC16A	O15027	p.Ser239Arg	rs992083744	missense variant	-	NC_000009.12:g.136476901T>G	gnomAD
SEC16A	O15027	p.Gly240Arg	rs771055105	missense variant	-	NC_000009.12:g.136476898C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro242Leu	rs772213098	missense variant	-	NC_000009.12:g.136476891G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro242Ser	rs773181129	missense variant	-	NC_000009.12:g.136476892G>A	ExAC,gnomAD
SEC16A	O15027	p.Cys243Ser	rs1438655246	missense variant	-	NC_000009.12:g.136476888C>G	gnomAD
SEC16A	O15027	p.Val247Ile	rs745642879	missense variant	-	NC_000009.12:g.136476877C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro248Leu	rs1280707418	missense variant	-	NC_000009.12:g.136476873G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro248Ser	rs1255340548	missense variant	-	NC_000009.12:g.136476874G>A	gnomAD
SEC16A	O15027	p.Pro251Ser	rs780952432	missense variant	-	NC_000009.12:g.136476865G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro251Arg	rs144576556	missense variant	-	NC_000009.12:g.136476864G>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro251Ser	rs780952432	missense variant	-	NC_000009.12:g.136476865G>A	NCI-TCGA
SEC16A	O15027	p.Thr252Pro	rs1162908491	missense variant	-	NC_000009.12:g.136476862T>G	TOPMed
SEC16A	O15027	p.Pro253Ser	rs369745626	missense variant	-	NC_000009.12:g.136476859G>A	ESP,ExAC,gnomAD
SEC16A	O15027	p.Pro253Leu	rs777294928	missense variant	-	NC_000009.12:g.136476858G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro253Leu	rs777294928	missense variant	-	NC_000009.12:g.136476858G>A	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Ile255Ser	rs1307416474	missense variant	-	NC_000009.12:g.136476852A>C	gnomAD
SEC16A	O15027	p.Ile255Val	rs1376357056	missense variant	-	NC_000009.12:g.136476853T>C	gnomAD
SEC16A	O15027	p.His257Tyr	rs759960923	missense variant	-	NC_000009.12:g.136476847G>A	ExAC,gnomAD
SEC16A	O15027	p.Gln258Arg	rs1029572146	missense variant	-	NC_000009.12:g.136476843T>C	TOPMed,gnomAD
SEC16A	O15027	p.Gly259Ser	rs754139871	missense variant	-	NC_000009.12:g.136476841C>T	ExAC,gnomAD
SEC16A	O15027	p.His262Arg	rs1446573835	missense variant	-	NC_000009.12:g.136476831T>C	TOPMed
SEC16A	O15027	p.His265Tyr	rs1291091779	missense variant	-	NC_000009.12:g.136476823G>A	TOPMed
SEC16A	O15027	p.His265Gln	rs773446232	missense variant	-	NC_000009.12:g.136476821G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His265Arg	rs558843142	missense variant	-	NC_000009.12:g.136476822T>C	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Ser266Asn	rs375989995	missense variant	-	NC_000009.12:g.136476819C>T	ESP,TOPMed
SEC16A	O15027	p.Pro267Ser	rs772303007	missense variant	-	NC_000009.12:g.136476817G>A	ExAC,gnomAD
SEC16A	O15027	p.Val269Leu	rs1424148547	missense variant	-	NC_000009.12:g.136476811C>A	gnomAD
SEC16A	O15027	p.Pro271Leu	COSM3655765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476804G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Pro272Leu	rs188027809	missense variant	-	NC_000009.12:g.136476801G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro272Gln	rs188027809	missense variant	-	NC_000009.12:g.136476801G>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala273Val	COSM5123581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476798G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ala273Ser	COSM6115376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476799C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ala274Val	rs745756231	missense variant	-	NC_000009.12:g.136476795G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala274Gly	rs745756231	missense variant	-	NC_000009.12:g.136476795G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro276Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476790G>A	NCI-TCGA
SEC16A	O15027	p.Ser277Asn	rs1402340697	missense variant	-	NC_000009.12:g.136476786C>T	TOPMed,gnomAD
SEC16A	O15027	p.Gly279Arg	rs770716419	missense variant	-	NC_000009.12:g.136476781C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg280Thr	rs746662485	missense variant	-	NC_000009.12:g.136476777C>G	ExAC,gnomAD
SEC16A	O15027	p.Asp281Tyr	rs1477370515	missense variant	-	NC_000009.12:g.136476775C>A	gnomAD
SEC16A	O15027	p.Glu282Lys	rs1322576039	missense variant	-	NC_000009.12:g.136476772C>T	TOPMed,gnomAD
SEC16A	O15027	p.Val283Met	rs757943782	missense variant	-	NC_000009.12:g.136476769C>T	ExAC,gnomAD
SEC16A	O15027	p.Leu286Phe	rs1342872082	missense variant	-	NC_000009.12:g.136476758C>A	gnomAD
SEC16A	O15027	p.Gln287Arg	rs1299404772	missense variant	-	NC_000009.12:g.136476756T>C	gnomAD
SEC16A	O15027	p.Gln287His	rs1182680482	missense variant	-	NC_000009.12:g.136476755T>G	TOPMed
SEC16A	O15027	p.Ser288Asn	rs1410946414	missense variant	-	NC_000009.12:g.136476753C>T	TOPMed
SEC16A	O15027	p.Leu292Val	rs752198196	missense variant	-	NC_000009.12:g.136476742G>C	ExAC,gnomAD
SEC16A	O15027	p.Asn294Asp	rs1199770115	missense variant	-	NC_000009.12:g.136476736T>C	gnomAD
SEC16A	O15027	p.Asn295Asp	rs755453466	missense variant	-	NC_000009.12:g.136476733T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser296Pro	rs1458055591	missense variant	-	NC_000009.12:g.136476730A>G	gnomAD
SEC16A	O15027	p.Pro298Ser	rs1435159817	missense variant	-	NC_000009.12:g.136476724G>A	gnomAD
SEC16A	O15027	p.Ser300Gly	rs199795346	missense variant	-	NC_000009.12:g.136476718T>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser300Asn	rs1478712151	missense variant	-	NC_000009.12:g.136476717C>T	TOPMed,gnomAD
SEC16A	O15027	p.Thr301Ile	rs1424239940	missense variant	-	NC_000009.12:g.136476714G>A	gnomAD
SEC16A	O15027	p.Phe302Leu	rs1192900788	missense variant	-	NC_000009.12:g.136476710G>C	gnomAD
SEC16A	O15027	p.Arg303Gly	rs1487991022	missense variant	-	NC_000009.12:g.136476709T>C	gnomAD
SEC16A	O15027	p.Arg307Ser	rs750662757	missense variant	-	NC_000009.12:g.136476695T>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg307Lys	rs1197370065	missense variant	-	NC_000009.12:g.136476696C>T	gnomAD
SEC16A	O15027	p.Ile308Thr	rs762038910	missense variant	-	NC_000009.12:g.136476693A>G	ExAC,gnomAD
SEC16A	O15027	p.Ile308Ser	rs762038910	missense variant	-	NC_000009.12:g.136476693A>C	ExAC,gnomAD
SEC16A	O15027	p.Val309Leu	rs368605187	missense variant	-	NC_000009.12:g.136476691C>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val309Met	rs368605187	missense variant	-	NC_000009.12:g.136476691C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His311Gln	rs1231828721	missense variant	-	NC_000009.12:g.136476683G>T	TOPMed,gnomAD
SEC16A	O15027	p.Trp312Arg	rs759420444	missense variant	-	NC_000009.12:g.136476682A>G	ExAC,gnomAD
SEC16A	O15027	p.Ala313Thr	rs536581295	missense variant	-	NC_000009.12:g.136476679C>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Ala313Gly	rs567682784	missense variant	-	NC_000009.12:g.136476678G>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala313Glu	rs567682784	missense variant	-	NC_000009.12:g.136476678G>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala313Val	rs567682784	missense variant	-	NC_000009.12:g.136476678G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu316Lys	rs772914656	missense variant	-	NC_000009.12:g.136476670C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu316Ter	COSM1106837	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136476670C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Glu316Gln	rs772914656	missense variant	-	NC_000009.12:g.136476670C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg318Gly	rs771700463	missense variant	-	NC_000009.12:g.136476664T>C	ExAC,gnomAD
SEC16A	O15027	p.Arg318Lys	rs201408525	missense variant	-	NC_000009.12:g.136476663C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln319Arg	rs1466958796	missense variant	-	NC_000009.12:g.136476660T>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro321Leu	rs41306736	missense variant	-	NC_000009.12:g.136476654G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys324Glu	rs754472639	missense variant	-	NC_000009.12:g.136476646T>C	ExAC,gnomAD
SEC16A	O15027	p.Asn325Asp	rs749784784	missense variant	-	NC_000009.12:g.136476643T>C	ExAC,gnomAD
SEC16A	O15027	p.His327Tyr	rs1379302319	missense variant	-	NC_000009.12:g.136476637G>A	TOPMed,gnomAD
SEC16A	O15027	p.Arg328Trp	rs780590882	missense variant	-	NC_000009.12:g.136476634G>A	ExAC,gnomAD
SEC16A	O15027	p.Arg328Gln	rs1433904976	missense variant	-	NC_000009.12:g.136476633C>T	TOPMed,gnomAD
SEC16A	O15027	p.Arg328Pro	rs1433904976	missense variant	-	NC_000009.12:g.136476633C>G	TOPMed,gnomAD
SEC16A	O15027	p.Arg328Trp	rs780590882	missense variant	-	NC_000009.12:g.136476634G>A	NCI-TCGA
SEC16A	O15027	p.Ala330Thr	rs750816502	missense variant	-	NC_000009.12:g.136476628C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala330Val	rs767932663	missense variant	-	NC_000009.12:g.136476627G>A	ExAC,gnomAD
SEC16A	O15027	p.Ser331Phe	COSM4832039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476624G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ser331Cys	rs1200672277	missense variant	-	NC_000009.12:g.136476624G>C	TOPMed
SEC16A	O15027	p.Leu333Phe	rs751788583	missense variant	-	NC_000009.12:g.136476619G>A	ExAC,gnomAD
SEC16A	O15027	p.Asn335Ser	rs763065889	missense variant	-	NC_000009.12:g.136476612T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro336Leu	rs1025325657	missense variant	-	NC_000009.12:g.136476609G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro336Ser	rs776471738	missense variant	-	NC_000009.12:g.136476610G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu337Phe	rs760444762	missense variant	-	NC_000009.12:g.136476607G>A	ExAC,gnomAD
SEC16A	O15027	p.Leu337Pro	rs773004570	missense variant	-	NC_000009.12:g.136476606A>G	ExAC,gnomAD
SEC16A	O15027	p.Leu337Phe	rs760444762	missense variant	-	NC_000009.12:g.136476607G>A	NCI-TCGA
SEC16A	O15027	p.Ala338Ser	rs374603480	missense variant	-	NC_000009.12:g.136476604C>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala338Thr	rs374603480	missense variant	-	NC_000009.12:g.136476604C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala338Thr	rs374603480	missense variant	-	NC_000009.12:g.136476604C>T	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Arg339Trp	rs768101774	missense variant	-	NC_000009.12:g.136476601G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg339Gln	rs748803555	missense variant	-	NC_000009.12:g.136476600C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly340Glu	rs183141757	missense variant	-	NC_000009.12:g.136476597C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp341Tyr	rs1301411381	missense variant	-	NC_000009.12:g.136476595C>A	TOPMed
SEC16A	O15027	p.Pro343Ser	rs190728828	missense variant	-	NC_000009.12:g.136476589G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro343Ser	rs190728828	missense variant	-	NC_000009.12:g.136476589G>A	NCI-TCGA
SEC16A	O15027	p.Glu344Lys	rs1441738726	missense variant	-	NC_000009.12:g.136476586C>T	TOPMed,gnomAD
SEC16A	O15027	p.Asn345Ser	rs1465043272	missense variant	-	NC_000009.12:g.136476582T>C	TOPMed,gnomAD
SEC16A	O15027	p.Arg346Cys	rs560120664	missense variant	-	NC_000009.12:g.136476580G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg346His	rs201222771	missense variant	-	NC_000009.12:g.136476579C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg346Cys	rs560120664	missense variant	-	NC_000009.12:g.136476580G>A	NCI-TCGA
SEC16A	O15027	p.Thr347Met	rs370444806	missense variant	-	NC_000009.12:g.136476576G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His348Tyr	rs752808800	missense variant	-	NC_000009.12:g.136476574G>A	ExAC,gnomAD
SEC16A	O15027	p.Gly352Trp	rs760610941	missense variant	-	NC_000009.12:g.136476562C>A	ExAC,gnomAD
SEC16A	O15027	p.Gly352Arg	rs760610941	missense variant	-	NC_000009.12:g.136476562C>G	ExAC,gnomAD
SEC16A	O15027	p.Ala353Val	rs1459090595	missense variant	-	NC_000009.12:g.136476558G>A	TOPMed
SEC16A	O15027	p.Ala353Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476558G>T	NCI-TCGA
SEC16A	O15027	p.Ala353Ser	rs530033385	missense variant	-	NC_000009.12:g.136476559C>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly354Arg	rs1308155006	missense variant	-	NC_000009.12:g.136476556C>T	gnomAD
SEC16A	O15027	p.Gly354Glu	rs767324772	missense variant	-	NC_000009.12:g.136476555C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala355Val	rs1342085742	missense variant	-	NC_000009.12:g.136476552G>A	gnomAD
SEC16A	O15027	p.Gly356Arg	rs768354427	missense variant	-	NC_000009.12:g.136476550C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly356Ala	rs775065160	missense variant	-	NC_000009.12:g.136476549C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly356Glu	rs775065160	missense variant	-	NC_000009.12:g.136476549C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly356Arg	rs768354427	missense variant	-	NC_000009.12:g.136476550C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser357Cys	rs1421610177	missense variant	-	NC_000009.12:g.136476546G>C	gnomAD
SEC16A	O15027	p.Gly358Val	rs1324476067	missense variant	-	NC_000009.12:g.136476543C>A	TOPMed
SEC16A	O15027	p.Gly358Arg	rs1381143783	missense variant	-	NC_000009.12:g.136476544C>G	gnomAD
SEC16A	O15027	p.Ala360Val	rs1239524037	missense variant	-	NC_000009.12:g.136476537G>A	gnomAD
SEC16A	O15027	p.Ala360Ser	rs769142112	missense variant	-	NC_000009.12:g.136476538C>A	ExAC,gnomAD
SEC16A	O15027	p.Pro361Leu	rs202022715	missense variant	-	NC_000009.12:g.136476534G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro361Ser	rs187613986	missense variant	-	NC_000009.12:g.136476535G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu363Ala	rs1488370825	missense variant	-	NC_000009.12:g.136476528T>G	gnomAD
SEC16A	O15027	p.Ala364Glu	rs747372216	missense variant	-	NC_000009.12:g.136476525G>T	ExAC,gnomAD
SEC16A	O15027	p.Asp365His	rs758659758	missense variant	-	NC_000009.12:g.136476523C>G	ExAC,gnomAD
SEC16A	O15027	p.Ser366Ter	rs752795976	stop gained	-	NC_000009.12:g.136476519G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser366Leu	COSM3905733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476519G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gly367Val	rs1353427324	missense variant	-	NC_000009.12:g.136476516C>A	TOPMed,gnomAD
SEC16A	O15027	p.Ser369Leu	rs1300029749	missense variant	-	NC_000009.12:g.136476510G>A	gnomAD
SEC16A	O15027	p.Gly370Arg	rs755003126	missense variant	-	NC_000009.12:g.136476508C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala371Ser	rs750411223	missense variant	-	NC_000009.12:g.136476505C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala371Thr	rs750411223	missense variant	-	NC_000009.12:g.136476505C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala373Glu	rs112304024	missense variant	-	NC_000009.12:g.136476498G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala373Val	rs112304024	missense variant	-	NC_000009.12:g.136476498G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala373Ser	rs1399135673	missense variant	-	NC_000009.12:g.136476499C>A	gnomAD
SEC16A	O15027	p.Met374Val	rs1475117950	missense variant	-	NC_000009.12:g.136476496T>C	gnomAD
SEC16A	O15027	p.Met374Ile	rs763743092	missense variant	-	NC_000009.12:g.136476494C>T	ExAC,gnomAD
SEC16A	O15027	p.Phe375Val	rs375601006	missense variant	-	NC_000009.12:g.136476493A>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly378Arg	rs774953185	missense variant	-	NC_000009.12:g.136476484C>G	ExAC,TOPMed
SEC16A	O15027	p.Gly379Glu	rs1343363030	missense variant	-	NC_000009.12:g.136476480C>T	gnomAD
SEC16A	O15027	p.Gly379Arg	rs769475565	missense variant	-	NC_000009.12:g.136476481C>T	ExAC,gnomAD
SEC16A	O15027	p.Glu380Lys	rs1261775621	missense variant	-	NC_000009.12:g.136476478C>T	gnomAD
SEC16A	O15027	p.Thr381Ile	rs1213076952	missense variant	-	NC_000009.12:g.136476474G>A	gnomAD
SEC16A	O15027	p.Glu382Gln	COSM4821866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476472C>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Asn386Ser	rs759083618	missense variant	-	NC_000009.12:g.136476459T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn386Ile	rs759083618	missense variant	-	NC_000009.12:g.136476459T>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu387His	rs777342955	missense variant	-	NC_000009.12:g.136476456A>T	ExAC,gnomAD
SEC16A	O15027	p.Ser388Leu	rs771550750	missense variant	-	NC_000009.12:g.136476453G>A	ExAC,gnomAD
SEC16A	O15027	p.Lys391Glu	rs1045010076	missense variant	-	NC_000009.12:g.136476445T>C	TOPMed,gnomAD
SEC16A	O15027	p.Ala392Gly	rs747460286	missense variant	-	NC_000009.12:g.136476441G>C	ExAC,gnomAD
SEC16A	O15027	p.Ala392Thr	rs1163164525	missense variant	-	NC_000009.12:g.136476442C>T	TOPMed
SEC16A	O15027	p.Gly393Asp	rs373703673	missense variant	-	NC_000009.12:g.136476438C>T	1000Genomes,ESP,TOPMed,gnomAD
SEC16A	O15027	p.Leu394Val	rs369180207	missense variant	-	NC_000009.12:g.136476436A>C	ESP,TOPMed,gnomAD
SEC16A	O15027	p.Gly396Ser	rs778204075	missense variant	-	NC_000009.12:g.136476430C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala398Gly	rs375033362	missense variant	-	NC_000009.12:g.136476423G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala398Val	rs375033362	missense variant	-	NC_000009.12:g.136476423G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp401Asn	rs371308195	missense variant	-	NC_000009.12:g.136476415C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp402His	rs573369208	missense variant	-	NC_000009.12:g.136476412C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp402Asn	rs573369208	missense variant	-	NC_000009.12:g.136476412C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp402Asn	rs573369208	missense variant	-	NC_000009.12:g.136476412C>T	NCI-TCGA
SEC16A	O15027	p.Phe403Cys	rs1192671063	missense variant	-	NC_000009.12:g.136476408A>C	gnomAD
SEC16A	O15027	p.Cys404Ser	rs1214965435	missense variant	-	NC_000009.12:g.136476406A>T	TOPMed
SEC16A	O15027	p.Cys404Tyr	rs774416101	missense variant	-	NC_000009.12:g.136476405C>T	gnomAD
SEC16A	O15027	p.Cys404Ser	rs774416101	missense variant	-	NC_000009.12:g.136476405C>G	gnomAD
SEC16A	O15027	p.Ser405Phe	rs751408966	missense variant	-	NC_000009.12:g.136476402G>A	ExAC,gnomAD
SEC16A	O15027	p.Ser406Ile	rs1383408670	missense variant	-	NC_000009.12:g.136476399C>A	gnomAD
SEC16A	O15027	p.Gly408Glu	rs762630826	missense variant	-	NC_000009.12:g.136476393C>T	ExAC,gnomAD
SEC16A	O15027	p.Leu409Arg	rs1212873887	missense variant	-	NC_000009.12:g.136476390A>C	gnomAD
SEC16A	O15027	p.Arg411Gly	rs764975649	missense variant	-	NC_000009.12:g.136476385G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg411Cys	rs764975649	missense variant	-	NC_000009.12:g.136476385G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg411His	rs199827448	missense variant	-	NC_000009.12:g.136476384C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro412Leu	rs776293499	missense variant	-	NC_000009.12:g.136476381G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro412Gln	rs776293499	missense variant	-	NC_000009.12:g.136476381G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro412Arg	rs776293499	missense variant	-	NC_000009.12:g.136476381G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala414Val	rs1055683103	missense variant	-	NC_000009.12:g.136476375G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala414Thr	rs368250462	missense variant	-	NC_000009.12:g.136476376C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro415Ala	rs1467671161	missense variant	-	NC_000009.12:g.136476373G>C	TOPMed
SEC16A	O15027	p.Thr416Ile	rs774625075	missense variant	-	NC_000009.12:g.136476369G>A	ExAC,gnomAD
SEC16A	O15027	p.His417Tyr	rs1452109429	missense variant	-	NC_000009.12:g.136476367G>A	gnomAD
SEC16A	O15027	p.His417Gln	rs201580918	missense variant	-	NC_000009.12:g.136476365G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His417Leu	rs1239633284	missense variant	-	NC_000009.12:g.136476366T>A	gnomAD
SEC16A	O15027	p.Val418Leu	rs756133621	missense variant	-	NC_000009.12:g.136476364C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val418Gly	rs747013490	missense variant	-	NC_000009.12:g.136476363A>C	ExAC,gnomAD
SEC16A	O15027	p.Val418Met	rs756133621	missense variant	-	NC_000009.12:g.136476364C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val418Leu	rs756133621	missense variant	-	NC_000009.12:g.136476364C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly419Glu	rs765065720	missense variant	-	NC_000009.12:g.136476360C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly419Arg	rs374218992	missense variant	-	NC_000009.12:g.136476361C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala420Val	rs1210269016	missense variant	-	NC_000009.12:g.136476357G>A	TOPMed
SEC16A	O15027	p.Ala420Ser	rs1233669273	missense variant	-	NC_000009.12:g.136476358C>A	gnomAD
SEC16A	O15027	p.Gly421Ala	rs1311813482	missense variant	-	NC_000009.12:g.136476354C>G	gnomAD
SEC16A	O15027	p.Ser422Thr	rs372517754	missense variant	-	NC_000009.12:g.136476351C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser422Asn	rs372517754	missense variant	-	NC_000009.12:g.136476351C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu423Pro	rs1450760045	missense variant	-	NC_000009.12:g.136476348A>G	gnomAD
SEC16A	O15027	p.Leu423Phe	rs983654756	missense variant	-	NC_000009.12:g.136476349G>A	TOPMed,gnomAD
SEC16A	O15027	p.Cys424Phe	rs1360251570	missense variant	-	NC_000009.12:g.136476345C>A	gnomAD
SEC16A	O15027	p.Leu428Phe	rs1172410206	missense variant	-	NC_000009.12:g.136476334G>A	gnomAD
SEC16A	O15027	p.Leu428Pro	rs1432391283	missense variant	-	NC_000009.12:g.136476333A>G	TOPMed,gnomAD
SEC16A	O15027	p.Pro429Leu	rs1406482544	missense variant	-	NC_000009.12:g.136476330G>A	TOPMed
SEC16A	O15027	p.Gly430Asp	rs918252177	missense variant	-	NC_000009.12:g.136476327C>T	TOPMed
SEC16A	O15027	p.Pro431Ser	rs766010921	missense variant	-	NC_000009.12:g.136476325G>A	ExAC,gnomAD
SEC16A	O15027	p.Ser432Asn	rs1405460612	missense variant	-	NC_000009.12:g.136476321C>T	gnomAD
SEC16A	O15027	p.Ser432Arg	rs1441036909	missense variant	-	NC_000009.12:g.136476320G>C	TOPMed,gnomAD
SEC16A	O15027	p.Ser432Gly	rs760082920	missense variant	-	NC_000009.12:g.136476322T>C	ExAC,gnomAD
SEC16A	O15027	p.Asn433Ser	rs773811784	missense variant	-	NC_000009.12:g.136476318T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala435Val	rs367966773	missense variant	-	NC_000009.12:g.136476312G>A	ESP
SEC16A	O15027	p.Gly437Cys	rs1432883166	missense variant	-	NC_000009.12:g.136476307C>A	TOPMed
SEC16A	O15027	p.Trp440Cys	rs762299160	missense variant	-	NC_000009.12:g.136476296C>G	ExAC,gnomAD
SEC16A	O15027	p.Gly441Asp	rs1441239230	missense variant	-	NC_000009.12:g.136476294C>T	TOPMed
SEC16A	O15027	p.Gly441Ala	rs1441239230	missense variant	-	NC_000009.12:g.136476294C>G	TOPMed
SEC16A	O15027	p.Asp442Val	rs1296217923	missense variant	-	NC_000009.12:g.136476291T>A	TOPMed
SEC16A	O15027	p.Thr443Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476288G>T	NCI-TCGA
SEC16A	O15027	p.Ala444Val	rs1484772553	missense variant	-	NC_000009.12:g.136476285G>A	TOPMed,gnomAD
SEC16A	O15027	p.Thr446Ala	rs768946754	missense variant	-	NC_000009.12:g.136476280T>C	ExAC,gnomAD
SEC16A	O15027	p.Thr446Ile	rs1355433018	missense variant	-	NC_000009.12:g.136476279G>A	gnomAD
SEC16A	O15027	p.Gly447Glu	rs370132051	missense variant	-	NC_000009.12:g.136476276C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly447Ala	rs370132051	missense variant	-	NC_000009.12:g.136476276C>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val448Gly	rs1230399057	missense variant	-	NC_000009.12:g.136476273A>C	gnomAD
SEC16A	O15027	p.Pro449Leu	rs376213692	missense variant	-	NC_000009.12:g.136476270G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp450Ala	rs953873090	missense variant	-	NC_000009.12:g.136476267T>G	TOPMed,gnomAD
SEC16A	O15027	p.Ala451Thr	rs1436837521	missense variant	-	NC_000009.12:g.136476265C>T	TOPMed
SEC16A	O15027	p.Ala451Val	rs1361956071	missense variant	-	NC_000009.12:g.136476264G>A	gnomAD
SEC16A	O15027	p.Ser452Gly	rs758274068	missense variant	-	NC_000009.12:g.136476262T>C	ExAC,gnomAD
SEC16A	O15027	p.Ser452Cys	rs758274068	missense variant	-	NC_000009.12:g.136476262T>A	ExAC,gnomAD
SEC16A	O15027	p.Gly453Ser	rs748061636	missense variant	-	NC_000009.12:g.136476259C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly453Ala	rs778873081	missense variant	-	NC_000009.12:g.136476258C>G	ExAC,gnomAD
SEC16A	O15027	p.Ser454Pro	rs1417079128	missense variant	-	NC_000009.12:g.136476256A>G	gnomAD
SEC16A	O15027	p.Ser454Leu	rs754780144	missense variant	-	NC_000009.12:g.136476255G>A	ExAC,gnomAD
SEC16A	O15027	p.Gln455Arg	rs779829042	missense variant	-	NC_000009.12:g.136476252T>C	ExAC,gnomAD
SEC16A	O15027	p.Tyr456His	rs749894095	missense variant	-	NC_000009.12:g.136476250A>G	ExAC,gnomAD
SEC16A	O15027	p.Glu460Asp	rs766982400	missense variant	-	NC_000009.12:g.136476236C>A	ExAC,gnomAD
SEC16A	O15027	p.Glu460Gln	rs1259242275	missense variant	-	NC_000009.12:g.136476238C>G	gnomAD
SEC16A	O15027	p.Glu463Asp	rs896445312	missense variant	-	NC_000009.12:g.136476227T>G	TOPMed,gnomAD
SEC16A	O15027	p.Glu463Ter	rs762236641	stop gained	-	NC_000009.12:g.136476229C>A	ExAC,gnomAD
SEC16A	O15027	p.Glu463Ter	rs762236641	stop gained	-	NC_000009.12:g.136476229C>A	NCI-TCGA
SEC16A	O15027	p.Phe464Leu	rs1342970256	missense variant	-	NC_000009.12:g.136476226A>G	TOPMed,gnomAD
SEC16A	O15027	p.Gln466Lys	rs1381175782	missense variant	-	NC_000009.12:g.136476220G>T	TOPMed,gnomAD
SEC16A	O15027	p.Gln468Ter	rs1382312643	stop gained	-	NC_000009.12:g.136476214G>A	gnomAD
SEC16A	O15027	p.Gln468Arg	rs1294996552	missense variant	-	NC_000009.12:g.136476213T>C	gnomAD
SEC16A	O15027	p.Glu469Asp	rs763285724	missense variant	-	NC_000009.12:g.136476209T>G	ExAC,gnomAD
SEC16A	O15027	p.Glu469Ala	rs1458195956	missense variant	-	NC_000009.12:g.136476210T>G	TOPMed,gnomAD
SEC16A	O15027	p.Pro472Ser	rs548428204	missense variant	-	NC_000009.12:g.136476202G>A	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Ser473Asn	rs191198270	missense variant	-	NC_000009.12:g.136476198C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser473Arg	rs562760503	missense variant	-	NC_000009.12:g.136476197A>C	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Leu476Phe	rs770994307	missense variant	-	NC_000009.12:g.136476190G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn477Ser	rs748128386	missense variant	-	NC_000009.12:g.136476186T>C	ExAC,gnomAD
SEC16A	O15027	p.Asn477Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476187T>C	NCI-TCGA
SEC16A	O15027	p.Pro480Ala	rs1252469869	missense variant	-	NC_000009.12:g.136476178G>C	gnomAD
SEC16A	O15027	p.Ser482Tyr	rs373101405	missense variant	-	NC_000009.12:g.136476171G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser482Cys	rs373101405	missense variant	-	NC_000009.12:g.136476171G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser482Phe	rs373101405	missense variant	-	NC_000009.12:g.136476171G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro483Leu	rs756764916	missense variant	-	NC_000009.12:g.136476168G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro483Leu	rs756764916	missense variant	-	NC_000009.12:g.136476168G>A	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Ser484Thr	COSM6183168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476165C>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Asp485Glu	rs375827815	missense variant	-	NC_000009.12:g.136476161G>T	ESP
SEC16A	O15027	p.Gln486His	rs542738859	missense variant	-	NC_000009.12:g.136476158C>A	TOPMed,gnomAD
SEC16A	O15027	p.Phe487Leu	rs139275709	missense variant	-	NC_000009.12:g.136476155G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Phe487Leu	rs139275709	missense variant	-	NC_000009.12:g.136476155G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg488Gly	rs1448791023	missense variant	-	NC_000009.12:g.136476154T>C	gnomAD
SEC16A	O15027	p.Tyr489Cys	rs1400934669	missense variant	-	NC_000009.12:g.136476150T>C	gnomAD
SEC16A	O15027	p.Pro491Leu	rs1467510806	missense variant	-	NC_000009.12:g.136476144G>A	TOPMed
SEC16A	O15027	p.Leu492Val	rs1178362888	missense variant	-	NC_000009.12:g.136476142G>C	gnomAD
SEC16A	O15027	p.Pro493Ser	rs1190641825	missense variant	-	NC_000009.12:g.136476139G>A	TOPMed
SEC16A	O15027	p.Pro493Leu	rs1242763164	missense variant	-	NC_000009.12:g.136476138G>A	TOPMed
SEC16A	O15027	p.Gly494Glu	rs759700590	missense variant	-	NC_000009.12:g.136476135C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly494Val	rs759700590	missense variant	-	NC_000009.12:g.136476135C>A	ExAC,gnomAD
SEC16A	O15027	p.Gly494Arg	rs1454823227	missense variant	-	NC_000009.12:g.136476136C>G	TOPMed,gnomAD
SEC16A	O15027	p.Ala496Val	rs1043808383	missense variant	-	NC_000009.12:g.136476129G>A	gnomAD
SEC16A	O15027	p.Ala496Gly	rs1043808383	missense variant	-	NC_000009.12:g.136476129G>C	gnomAD
SEC16A	O15027	p.Pro498His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476123G>T	NCI-TCGA
SEC16A	O15027	p.Arg499Gly	rs1338046982	missense variant	-	NC_000009.12:g.136476121T>C	gnomAD
SEC16A	O15027	p.Gly501Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476114C>G	NCI-TCGA
SEC16A	O15027	p.Gly501Val	rs1416176550	missense variant	-	NC_000009.12:g.136476114C>A	TOPMed
SEC16A	O15027	p.Ala502Pro	rs368845427	missense variant	-	NC_000009.12:g.136476112C>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala502Gly	rs760814230	missense variant	-	NC_000009.12:g.136476111G>C	ExAC,gnomAD
SEC16A	O15027	p.Ala502Val	rs760814230	missense variant	-	NC_000009.12:g.136476111G>A	ExAC,gnomAD
SEC16A	O15027	p.Val503Met	rs1346683779	missense variant	-	NC_000009.12:g.136476109C>T	gnomAD
SEC16A	O15027	p.Cys504Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136476105C>T	NCI-TCGA
SEC16A	O15027	p.Thr506Ala	rs774487311	missense variant	-	NC_000009.12:g.136476100T>C	ExAC,gnomAD
SEC16A	O15027	p.Gly507Val	rs746070589	missense variant	-	NC_000009.12:g.136476096C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly507Arg	rs200035717	missense variant	-	NC_000009.12:g.136476097C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro509Ala	rs745534567	missense variant	-	NC_000009.12:g.136476091G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp510Asn	rs780879254	missense variant	-	NC_000009.12:g.136476088C>T	ExAC,gnomAD
SEC16A	O15027	p.Asp510Gly	rs746520963	missense variant	-	NC_000009.12:g.136476087T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp510Ala	rs746520963	missense variant	-	NC_000009.12:g.136476087T>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr512Pro	rs1172054171	missense variant	-	NC_000009.12:g.136476082T>G	gnomAD
SEC16A	O15027	p.Thr512Arg	rs1441907486	missense variant	-	NC_000009.12:g.136476081G>C	gnomAD
SEC16A	O15027	p.Thr512Ala	COSM5125003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476082T>C	NCI-TCGA Cosmic
SEC16A	O15027	p.Val516Ala	rs1436515537	missense variant	-	NC_000009.12:g.136476069A>G	gnomAD
SEC16A	O15027	p.Pro518Arg	rs1258949144	missense variant	-	NC_000009.12:g.136476063G>C	gnomAD
SEC16A	O15027	p.Pro518Ser	rs1234338300	missense variant	-	NC_000009.12:g.136476064G>A	TOPMed
SEC16A	O15027	p.Asp519Glu	rs758920577	missense variant	-	NC_000009.12:g.136476059G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser520Asn	rs753199447	missense variant	-	NC_000009.12:g.136476057C>T	ExAC,gnomAD
SEC16A	O15027	p.Val521Leu	rs765552132	missense variant	-	NC_000009.12:g.136476055C>A	ExAC,gnomAD
SEC16A	O15027	p.Val521Met	rs765552132	missense variant	-	NC_000009.12:g.136476055C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser522Leu	rs887914749	missense variant	-	NC_000009.12:g.136476051G>A	TOPMed
SEC16A	O15027	p.Ser523Phe	rs1241806297	missense variant	-	NC_000009.12:g.136476048G>A	gnomAD
SEC16A	O15027	p.Ser524Gly	rs754056036	missense variant	-	NC_000009.12:g.136476046T>C	ExAC,gnomAD
SEC16A	O15027	p.Tyr525Cys	rs766608538	missense variant	-	NC_000009.12:g.136476042T>C	ExAC,gnomAD
SEC16A	O15027	p.Ser526Thr	rs760902142	missense variant	-	NC_000009.12:g.136476039C>G	ExAC,gnomAD
SEC16A	O15027	p.Ser527Asn	rs1451618059	missense variant	-	NC_000009.12:g.136476036C>T	TOPMed,gnomAD
SEC16A	O15027	p.Arg528Gly	rs1374981102	missense variant	-	NC_000009.12:g.136476034T>C	gnomAD
SEC16A	O15027	p.Ser529Asn	COSM3655759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136476030C>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Gly531Arg	rs1402630519	missense variant	-	NC_000009.12:g.136476025C>T	gnomAD
SEC16A	O15027	p.Leu533Pro	rs201375263	missense variant	-	NC_000009.12:g.136476018A>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu533Arg	rs201375263	missense variant	-	NC_000009.12:g.136476018A>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser534Leu	rs1468983508	missense variant	-	NC_000009.12:g.136476015G>A	gnomAD
SEC16A	O15027	p.Gly535Asp	rs1189328896	missense variant	-	NC_000009.12:g.136476012C>T	gnomAD
SEC16A	O15027	p.Ser536Leu	rs775453789	missense variant	-	NC_000009.12:g.136476009G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala537Gly	rs1475638762	missense variant	-	NC_000009.12:g.136476006G>C	TOPMed
SEC16A	O15027	p.Ala537Pro	rs769530304	missense variant	-	NC_000009.12:g.136476007C>G	ExAC,gnomAD
SEC16A	O15027	p.Arg538Lys	rs1447160701	missense variant	-	NC_000009.12:g.136476003C>T	gnomAD
SEC16A	O15027	p.Pro539Leu	rs180868261	missense variant	-	NC_000009.12:g.136476000G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro539His	rs180868261	missense variant	-	NC_000009.12:g.136476000G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln540His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475996C>A	NCI-TCGA
SEC16A	O15027	p.Val543Ala	rs372382873	missense variant	-	NC_000009.12:g.136475988A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Phe546Leu	rs777288814	missense variant	-	NC_000009.12:g.136475978G>C	ExAC,gnomAD
SEC16A	O15027	p.Ile547Val	rs757864363	missense variant	-	NC_000009.12:g.136475977T>C	ExAC,gnomAD
SEC16A	O15027	p.Gln548Arg	rs755355232	missense variant	-	NC_000009.12:g.136475973T>C	ExAC,gnomAD
SEC16A	O15027	p.Gln548Lys	rs779452940	missense variant	-	NC_000009.12:g.136475974G>T	ExAC,gnomAD
SEC16A	O15027	p.Gln548Glu	rs779452940	missense variant	-	NC_000009.12:g.136475974G>C	ExAC,gnomAD
SEC16A	O15027	p.Val551Ala	rs1397076929	missense variant	-	NC_000009.12:g.136475964A>G	gnomAD
SEC16A	O15027	p.Glu555Lys	rs575474560	missense variant	-	NC_000009.12:g.136475953C>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Asp556Val	rs1335596680	missense variant	-	NC_000009.12:g.136475949T>A	TOPMed
SEC16A	O15027	p.Ser561Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475934C>A	NCI-TCGA
SEC16A	O15027	p.Phe563LeuPheSerTerUnk	COSM3215700	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136475927A>-	NCI-TCGA Cosmic
SEC16A	O15027	p.Lys564Ter	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136475926_136475927insA	NCI-TCGA
SEC16A	O15027	p.Gln565Arg	rs767733979	missense variant	-	NC_000009.12:g.136475922T>C	ExAC,gnomAD
SEC16A	O15027	p.Ile566Thr	rs1325634187	missense variant	-	NC_000009.12:g.136475919A>G	TOPMed,gnomAD
SEC16A	O15027	p.Asp567Asn	rs761949149	missense variant	-	NC_000009.12:g.136475917C>T	ExAC,gnomAD
SEC16A	O15027	p.Asp567Asn	rs761949149	missense variant	-	NC_000009.12:g.136475917C>T	NCI-TCGA
SEC16A	O15027	p.Ser568Tyr	rs765220394	missense variant	-	NC_000009.12:g.136475913G>T	ExAC,gnomAD
SEC16A	O15027	p.Ser569Phe	rs1212847880	missense variant	-	NC_000009.12:g.136475910G>A	gnomAD
SEC16A	O15027	p.Pro570Leu	rs770664435	missense variant	-	NC_000009.12:g.136475907G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro570Ser	rs776501804	missense variant	-	NC_000009.12:g.136475908G>A	ExAC,gnomAD
SEC16A	O15027	p.Val571Ile	rs772819804	missense variant	-	NC_000009.12:g.136475905C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val571Gly	rs1350561096	missense variant	-	NC_000009.12:g.136475904A>C	TOPMed
SEC16A	O15027	p.Val571Leu	rs772819804	missense variant	-	NC_000009.12:g.136475905C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val571Ile	rs772819804	missense variant	-	NC_000009.12:g.136475905C>T	NCI-TCGA
SEC16A	O15027	p.Gly572Glu	rs1282554526	missense variant	-	NC_000009.12:g.136475901C>T	TOPMed
SEC16A	O15027	p.Gly573Val	rs1428841108	missense variant	-	NC_000009.12:g.136475898C>A	gnomAD
SEC16A	O15027	p.Asp576Glu	rs747679563	missense variant	-	NC_000009.12:g.136475888G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu577Lys	rs779354617	missense variant	-	NC_000009.12:g.136475887C>T	ExAC,gnomAD
SEC16A	O15027	p.Glu577Asp	rs769208792	missense variant	-	NC_000009.12:g.136475885C>A	ExAC,gnomAD
SEC16A	O15027	p.Glu577Lys	rs779354617	missense variant	-	NC_000009.12:g.136475887C>T	NCI-TCGA
SEC16A	O15027	p.Glu577Asp	rs769208792	missense variant	-	NC_000009.12:g.136475885C>G	ExAC,gnomAD
SEC16A	O15027	p.Thr578Ser	rs1173214045	missense variant	-	NC_000009.12:g.136475883G>C	gnomAD
SEC16A	O15027	p.Arg585His	rs750710151	missense variant	-	NC_000009.12:g.136475862C>T	ExAC,gnomAD
SEC16A	O15027	p.Arg585Cys	rs756503716	missense variant	-	NC_000009.12:g.136475863G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser587Ile	rs1253259311	missense variant	-	NC_000009.12:g.136475856C>A	TOPMed,gnomAD
SEC16A	O15027	p.Ser587Asn	rs1253259311	missense variant	-	NC_000009.12:g.136475856C>T	TOPMed,gnomAD
SEC16A	O15027	p.Val588Ala	rs751666829	missense variant	-	NC_000009.12:g.136475853A>G	ExAC,gnomAD
SEC16A	O15027	p.Val588Met	rs757350105	missense variant	-	NC_000009.12:g.136475854C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser589Cys	rs1205071374	missense variant	-	NC_000009.12:g.136475850G>C	gnomAD
SEC16A	O15027	p.Gln590Ter	rs764025729	stop gained	-	NC_000009.12:g.136475848G>A	ExAC,gnomAD
SEC16A	O15027	p.Thr593Asn	rs1350307764	missense variant	-	NC_000009.12:g.136475838G>T	gnomAD
SEC16A	O15027	p.Pro594Arg	rs753737220	missense variant	-	NC_000009.12:g.136475835G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro594Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475835G>T	NCI-TCGA
SEC16A	O15027	p.Pro594Leu	rs753737220	missense variant	-	NC_000009.12:g.136475835G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser595Thr	rs766202220	missense variant	-	NC_000009.12:g.136475832C>G	ExAC,gnomAD
SEC16A	O15027	p.Pro596Leu	rs985192687	missense variant	-	NC_000009.12:g.136475829G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro597Ala	rs771708463	missense variant	-	NC_000009.12:g.136475827G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro597Leu	rs56110017	missense variant	-	NC_000009.12:g.136475826G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro597Ser	rs771708463	missense variant	-	NC_000009.12:g.136475827G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro597ArgPheSerTerUnkUnk	COSM5136388	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136475826G>-	NCI-TCGA Cosmic
SEC16A	O15027	p.Pro597Arg	rs56110017	missense variant	-	NC_000009.12:g.136475826G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro599His	rs1237499212	missense variant	-	NC_000009.12:g.136475820G>T	TOPMed
SEC16A	O15027	p.Gly601Glu	rs1395275196	missense variant	-	NC_000009.12:g.136475814C>T	gnomAD
SEC16A	O15027	p.Ile602Val	rs368089712	missense variant	-	NC_000009.12:g.136475812T>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln604Arg	rs1452208247	missense variant	-	NC_000009.12:g.136475805T>C	TOPMed,gnomAD
SEC16A	O15027	p.Gln604His	rs1409835587	missense variant	-	NC_000009.12:g.136475804C>G	gnomAD
SEC16A	O15027	p.Thr605Ile	rs1177575422	missense variant	-	NC_000009.12:g.136475802G>A	gnomAD
SEC16A	O15027	p.Ala607Thr	rs200888726	missense variant	-	NC_000009.12:g.136475797C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn608Asp	rs780671607	missense variant	-	NC_000009.12:g.136475794T>C	ExAC,gnomAD
SEC16A	O15027	p.Ser610Tyr	rs1032173048	missense variant	-	NC_000009.12:g.136475787G>T	TOPMed,gnomAD
SEC16A	O15027	p.Ser610Phe	rs1032173048	missense variant	-	NC_000009.12:g.136475787G>A	TOPMed,gnomAD
SEC16A	O15027	p.Glu612Lys	rs781638082	missense variant	-	NC_000009.12:g.136475782C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu612Lys	rs781638082	missense variant	-	NC_000009.12:g.136475782C>T	NCI-TCGA
SEC16A	O15027	p.Pro613Leu	rs371898934	missense variant	-	NC_000009.12:g.136475778G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys615Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475772T>A	NCI-TCGA
SEC16A	O15027	p.Lys615Asn	rs190874245	missense variant	-	NC_000009.12:g.136475771T>A	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Lys615Arg	rs1453289090	missense variant	-	NC_000009.12:g.136475772T>C	TOPMed
SEC16A	O15027	p.Ser616Pro	rs1373236372	missense variant	-	NC_000009.12:g.136475770A>G	gnomAD
SEC16A	O15027	p.His617Gln	rs76562693	missense variant	-	NC_000009.12:g.136475765G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu618Ser	rs370620920	missense variant	-	NC_000009.12:g.136475763A>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly620Glu	rs1311778031	missense variant	-	NC_000009.12:g.136475757C>T	gnomAD
SEC16A	O15027	p.Pro623Ser	rs1159534934	missense variant	-	NC_000009.12:g.136475749G>A	gnomAD
SEC16A	O15027	p.Phe624Leu	rs1258629870	missense variant	-	NC_000009.12:g.136475746A>G	gnomAD
SEC16A	O15027	p.Arg628His	rs181091537	missense variant	-	NC_000009.12:g.136475733C>T	1000Genomes,ESP,ExAC,gnomAD
SEC16A	O15027	p.Arg628Cys	rs186399867	missense variant	-	NC_000009.12:g.136475734G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg628His	rs181091537	missense variant	-	NC_000009.12:g.136475733C>T	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Ala629Thr	rs372757162	missense variant	-	NC_000009.12:g.136475731C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn630Ser	rs1210293842	missense variant	-	NC_000009.12:g.136475727T>C	gnomAD
SEC16A	O15027	p.Asn630His	rs1258228351	missense variant	-	NC_000009.12:g.136475728T>G	gnomAD
SEC16A	O15027	p.Asn630Lys	rs369229593	missense variant	-	NC_000009.12:g.136475726G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn630Ile	rs1210293842	missense variant	-	NC_000009.12:g.136475727T>A	gnomAD
SEC16A	O15027	p.Asn630Lys	rs369229593	missense variant	-	NC_000009.12:g.136475726G>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val631Met	rs1262761726	missense variant	-	NC_000009.12:g.136475725C>T	gnomAD
SEC16A	O15027	p.Val631Met	rs1262761726	missense variant	-	NC_000009.12:g.136475725C>T	NCI-TCGA
SEC16A	O15027	p.Glu634Gln	rs1316760268	missense variant	-	NC_000009.12:g.136475716C>G	gnomAD
SEC16A	O15027	p.Glu637Lys	rs1309557085	missense variant	-	NC_000009.12:g.136475707C>T	TOPMed
SEC16A	O15027	p.Thr638Ala	rs770432903	missense variant	-	NC_000009.12:g.136475704T>C	ExAC,gnomAD
SEC16A	O15027	p.Thr638Ser	rs770432903	missense variant	-	NC_000009.12:g.136475704T>A	ExAC,gnomAD
SEC16A	O15027	p.Thr638Asn	rs1228412898	missense variant	-	NC_000009.12:g.136475703G>T	TOPMed
SEC16A	O15027	p.Cys639Ser	rs536445766	missense variant	-	NC_000009.12:g.136475701A>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Cys639Arg	rs536445766	missense variant	-	NC_000009.12:g.136475701A>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Cys639Tyr	rs1292083450	missense variant	-	NC_000009.12:g.136475700C>T	gnomAD
SEC16A	O15027	p.Arg641His	rs569098481	missense variant	-	NC_000009.12:g.136475694C>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Arg641Cys	rs541006177	missense variant	-	NC_000009.12:g.136475695G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg641Cys	rs541006177	missense variant	-	NC_000009.12:g.136475695G>A	NCI-TCGA
SEC16A	O15027	p.Gln642Arg	rs1452770047	missense variant	-	NC_000009.12:g.136475691T>C	gnomAD
SEC16A	O15027	p.Cys645Gly	rs758563364	missense variant	-	NC_000009.12:g.136475683A>C	ExAC,gnomAD
SEC16A	O15027	p.Cys645Tyr	rs916322373	missense variant	-	NC_000009.12:g.136475682C>T	gnomAD
SEC16A	O15027	p.Arg646Lys	rs1417104281	missense variant	-	NC_000009.12:g.136475679C>T	gnomAD
SEC16A	O15027	p.Pro647Ala	rs753053908	missense variant	-	NC_000009.12:g.136475677G>C	TOPMed
SEC16A	O15027	p.Ala648Val	rs750310805	missense variant	-	NC_000009.12:g.136475673G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala648Gly	rs750310805	missense variant	-	NC_000009.12:g.136475673G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala649Val	rs1187276474	missense variant	-	NC_000009.12:g.136475670G>A	gnomAD
SEC16A	O15027	p.Ala649Gly	rs1187276474	missense variant	-	NC_000009.12:g.136475670G>C	gnomAD
SEC16A	O15027	p.Ala650Asp	rs763636931	missense variant	-	NC_000009.12:g.136475667G>T	ExAC,gnomAD
SEC16A	O15027	p.Ala650Thr	rs200785473	missense variant	-	NC_000009.12:g.136475668C>T	NCI-TCGA
SEC16A	O15027	p.Ala650Thr	rs200785473	missense variant	-	NC_000009.12:g.136475668C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp653Asn	rs898098578	missense variant	-	NC_000009.12:g.136475659C>T	TOPMed,gnomAD
SEC16A	O15027	p.Asp653Asn	rs898098578	missense variant	-	NC_000009.12:g.136475659C>T	NCI-TCGA
SEC16A	O15027	p.Ser655Phe	rs755828680	missense variant	-	NC_000009.12:g.136475652G>A	ExAC,gnomAD
SEC16A	O15027	p.Gly657Ser	rs532320687	missense variant	-	NC_000009.12:g.136475647C>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Gly657Arg	rs532320687	missense variant	-	NC_000009.12:g.136475647C>G	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Pro662Leu	rs1167525062	missense variant	-	NC_000009.12:g.136475631G>A	TOPMed
SEC16A	O15027	p.Asp664Glu	rs1398511512	missense variant	-	NC_000009.12:g.136475624G>C	gnomAD
SEC16A	O15027	p.Asn665Ser	rs773548525	missense variant	-	NC_000009.12:g.136475622T>C	ExAC,gnomAD
SEC16A	O15027	p.Asn665Thr	rs773548525	missense variant	-	NC_000009.12:g.136475622T>G	ExAC,gnomAD
SEC16A	O15027	p.Thr668Ser	rs1162782891	missense variant	-	NC_000009.12:g.136475613G>C	TOPMed,gnomAD
SEC16A	O15027	p.Cys670Gly	rs199511844	missense variant	-	NC_000009.12:g.136475608A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Cys670Tyr	rs377026744	missense variant	-	NC_000009.12:g.136475607C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro672His	rs745843007	missense variant	-	NC_000009.12:g.136475601G>T	ExAC,gnomAD
SEC16A	O15027	p.Pro672Leu	rs745843007	missense variant	-	NC_000009.12:g.136475601G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro676Ser	rs372499284	missense variant	-	NC_000009.12:g.136475590G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu677Val	rs757129403	missense variant	-	NC_000009.12:g.136475587G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu679Pro	rs751319352	missense variant	-	NC_000009.12:g.136475580A>G	ExAC,gnomAD
SEC16A	O15027	p.Asn680Tyr	rs763895935	missense variant	-	NC_000009.12:g.136475578T>A	ExAC
SEC16A	O15027	p.Thr683Met	rs376288098	missense variant	-	NC_000009.12:g.136475568G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala685Val	rs759097486	missense variant	-	NC_000009.12:g.136475562G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala685Gly	rs759097486	missense variant	-	NC_000009.12:g.136475562G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His687Tyr	rs1305226123	missense variant	-	NC_000009.12:g.136475557G>A	gnomAD
SEC16A	O15027	p.His687Asp	rs1305226123	missense variant	-	NC_000009.12:g.136475557G>C	gnomAD
SEC16A	O15027	p.Met688IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136475552_136475553insA	NCI-TCGA
SEC16A	O15027	p.Pro690Leu	rs371255911	missense variant	-	NC_000009.12:g.136475547G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro690Arg	rs371255911	missense variant	-	NC_000009.12:g.136475547G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His691Gln	rs374464364	missense variant	-	NC_000009.12:g.136475543G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala692Val	rs1397155809	missense variant	-	NC_000009.12:g.136475541G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala692Glu	rs1397155809	missense variant	-	NC_000009.12:g.136475541G>T	TOPMed,gnomAD
SEC16A	O15027	p.Ala692Thr	rs371087719	missense variant	-	NC_000009.12:g.136475542C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala692Ser	rs371087719	missense variant	-	NC_000009.12:g.136475542C>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala694Thr	rs749311356	missense variant	-	NC_000009.12:g.136475536C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro695Leu	rs368747402	missense variant	-	NC_000009.12:g.136475532G>A	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Pro695Leu	rs368747402	missense variant	-	NC_000009.12:g.136475532G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp698Tyr	rs774434354	missense variant	-	NC_000009.12:g.136475524C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp698Gly	rs1288330017	missense variant	-	NC_000009.12:g.136475523T>C	TOPMed
SEC16A	O15027	p.Thr699Ala	rs1383158668	missense variant	-	NC_000009.12:g.136475521T>C	TOPMed
SEC16A	O15027	p.Val700Met	rs1313650451	missense variant	-	NC_000009.12:g.136475518C>T	TOPMed
SEC16A	O15027	p.Tyr701Cys	rs1310113952	missense variant	-	NC_000009.12:g.136475514T>C	TOPMed,gnomAD
SEC16A	O15027	p.Glu705Ala	rs761106453	missense variant	-	NC_000009.12:g.136475502T>G	ExAC,gnomAD
SEC16A	O15027	p.Glu705Lys	rs765856747	missense variant	-	NC_000009.12:g.136475503C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu705Asp	rs750901162	missense variant	-	NC_000009.12:g.136475501C>A	ExAC,gnomAD
SEC16A	O15027	p.Arg707Ser	rs767905875	missense variant	-	NC_000009.12:g.136475495C>A	ExAC,gnomAD
SEC16A	O15027	p.Ser709Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.136475490G>C	NCI-TCGA
SEC16A	O15027	p.Ala710Thr	rs575412275	missense variant	-	NC_000009.12:g.136475488C>T	1000Genomes
SEC16A	O15027	p.Arg711Ser	rs762679962	missense variant	-	NC_000009.12:g.136475483C>A	gnomAD
SEC16A	O15027	p.Gly714Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475475C>A	NCI-TCGA
SEC16A	O15027	p.Pro715His	rs1368722200	missense variant	-	NC_000009.12:g.136475472G>T	gnomAD
SEC16A	O15027	p.Pro715Ser	rs1298147422	missense variant	-	NC_000009.12:g.136475473G>A	TOPMed,gnomAD
SEC16A	O15027	p.Val716Met	rs370085010	missense variant	-	NC_000009.12:g.136475470C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val716Leu	rs370085010	missense variant	-	NC_000009.12:g.136475470C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val716Leu	rs370085010	missense variant	-	NC_000009.12:g.136475470C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys717Asn	rs1401793026	missense variant	-	NC_000009.12:g.136475465C>A	gnomAD
SEC16A	O15027	p.Ser720Asn	rs201861927	missense variant	-	NC_000009.12:g.136475457C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala722Pro	rs377428798	missense variant	-	NC_000009.12:g.136475452C>G	ESP,ExAC,gnomAD
SEC16A	O15027	p.Thr723Met	rs1364872857	missense variant	-	NC_000009.12:g.136475448G>A	TOPMed,gnomAD
SEC16A	O15027	p.Trp726Gly	rs747954759	missense variant	-	NC_000009.12:g.136475440A>C	ExAC,gnomAD
SEC16A	O15027	p.Trp726GlyPheSerTerUnk	COSM1461097	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136475439_136475440CA>-	NCI-TCGA Cosmic
SEC16A	O15027	p.Trp726Leu	rs369856738	missense variant	-	NC_000009.12:g.136475439C>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala727Val	rs377299400	missense variant	-	NC_000009.12:g.136475436G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala727Gly	rs377299400	missense variant	-	NC_000009.12:g.136475436G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala727Ser	rs754690182	missense variant	-	NC_000009.12:g.136475437C>A	ExAC,gnomAD
SEC16A	O15027	p.Gln728Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.136475434G>A	NCI-TCGA
SEC16A	O15027	p.Ser729Asn	rs755618295	missense variant	-	NC_000009.12:g.136475430C>T	ExAC,gnomAD
SEC16A	O15027	p.Glu730Lys	rs1357321234	missense variant	-	NC_000009.12:g.136475428C>T	gnomAD
SEC16A	O15027	p.Leu731Val	rs1295149862	missense variant	-	NC_000009.12:g.136475425G>C	gnomAD
SEC16A	O15027	p.Leu731Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475424A>G	NCI-TCGA
SEC16A	O15027	p.Pro732Ser	rs1043463613	missense variant	-	NC_000009.12:g.136475422G>A	TOPMed,gnomAD
SEC16A	O15027	p.Asp733Glu	rs188452335	missense variant	-	NC_000009.12:g.136475417A>C	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Phe734Ser	rs1332515818	missense variant	-	NC_000009.12:g.136475415A>G	TOPMed,gnomAD
SEC16A	O15027	p.Gly735Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475412C>A	NCI-TCGA
SEC16A	O15027	p.Asn737Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475407T>A	NCI-TCGA
SEC16A	O15027	p.Asn737Lys	rs762230036	missense variant	-	NC_000009.12:g.136475405G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn737Lys	rs762230036	missense variant	-	NC_000009.12:g.136475405G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val738Leu	rs751923568	missense variant	-	NC_000009.12:g.136475404C>G	ExAC,gnomAD
SEC16A	O15027	p.Val738Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475404C>A	NCI-TCGA
SEC16A	O15027	p.Val738Ile	rs751923568	missense variant	-	NC_000009.12:g.136475404C>T	ExAC,gnomAD
SEC16A	O15027	p.Val738Ile	rs751923568	missense variant	-	NC_000009.12:g.136475404C>T	NCI-TCGA
SEC16A	O15027	p.Ala741Val	rs1164973318	missense variant	-	NC_000009.12:g.136475394G>A	gnomAD
SEC16A	O15027	p.Ala744Ser	rs759823940	missense variant	-	NC_000009.12:g.136475386C>A	ExAC,gnomAD
SEC16A	O15027	p.Pro745Leu	rs775754248	missense variant	-	NC_000009.12:g.136475382G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala746Val	rs369787385	missense variant	-	NC_000009.12:g.136475379G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala746Pro	rs572920071	missense variant	-	NC_000009.12:g.136475380C>G	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Tyr748Ser	rs201466249	missense variant	-	NC_000009.12:g.136475373T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val749Met	rs1355797721	missense variant	-	NC_000009.12:g.136475371C>T	gnomAD
SEC16A	O15027	p.Val749Met	rs1355797721	missense variant	-	NC_000009.12:g.136475371C>T	NCI-TCGA
SEC16A	O15027	p.Cys750Tyr	rs1433111113	missense variant	-	NC_000009.12:g.136475367C>T	gnomAD
SEC16A	O15027	p.Ala751Thr	rs768456918	missense variant	-	NC_000009.12:g.136475365C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala751Gly	rs200394508	missense variant	-	NC_000009.12:g.136475364G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys752Asn	rs779731282	missense variant	-	NC_000009.12:g.136475360T>G	ExAC,gnomAD
SEC16A	O15027	p.Pro753Arg	rs755633235	missense variant	-	NC_000009.12:g.136475358G>C	ExAC,gnomAD
SEC16A	O15027	p.Pro755Leu	rs367618737	missense variant	-	NC_000009.12:g.136475352G>A	ESP,TOPMed,gnomAD
SEC16A	O15027	p.Pro756Arg	rs1475508773	missense variant	-	NC_000009.12:g.136475349G>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro756Leu	rs1475508773	missense variant	-	NC_000009.12:g.136475349G>A	TOPMed,gnomAD
SEC16A	O15027	p.Val758Ile	rs780611596	missense variant	-	NC_000009.12:g.136475344C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro761Ser	rs952110672	missense variant	-	NC_000009.12:g.136475335G>A	TOPMed
SEC16A	O15027	p.Glu763Asp	rs1027701780	missense variant	-	NC_000009.12:g.136475327C>G	TOPMed
SEC16A	O15027	p.Ala764Val	rs1038376291	missense variant	-	NC_000009.12:g.136475325G>A	gnomAD
SEC16A	O15027	p.Met765Ile	rs1216456042	missense variant	-	NC_000009.12:g.136475321C>T	gnomAD
SEC16A	O15027	p.Ser766Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475319G>A	NCI-TCGA
SEC16A	O15027	p.Ser766Pro	rs1340285044	missense variant	-	NC_000009.12:g.136475320A>G	gnomAD
SEC16A	O15027	p.Gly767Glu	rs1302057589	missense variant	-	NC_000009.12:g.136475316C>T	TOPMed
SEC16A	O15027	p.Gly767Arg	rs139127515	missense variant	-	NC_000009.12:g.136475317C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln768Arg	rs752920904	missense variant	-	NC_000009.12:g.136475313T>C	ExAC,gnomAD
SEC16A	O15027	p.Gln769His	rs1327001306	missense variant	-	NC_000009.12:g.136475309C>A	gnomAD
SEC16A	O15027	p.Arg771Trp	rs759612740	missense variant	-	NC_000009.12:g.136475305G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg771Gln	rs374699588	missense variant	-	NC_000009.12:g.136475304C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg771Trp	rs759612740	missense variant	-	NC_000009.12:g.136475305G>A	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Pro773Ser	rs766516904	missense variant	-	NC_000009.12:g.136475299G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser774Arg	rs761871354	missense variant	-	NC_000009.12:g.136475296T>G	ExAC,gnomAD
SEC16A	O15027	p.Ser775Leu	rs747047662	missense variant	-	NC_000009.12:g.136475292G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala776Val	rs1194426219	missense variant	-	NC_000009.12:g.136475289G>A	TOPMed
SEC16A	O15027	p.Ala777Thr	rs769489004	missense variant	-	NC_000009.12:g.136475287C>T	ExAC
SEC16A	O15027	p.Pro778Leu	rs371427184	missense variant	-	NC_000009.12:g.136475283G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro778Thr	rs745461841	missense variant	-	NC_000009.12:g.136475284G>T	ExAC,gnomAD
SEC16A	O15027	p.Pro778Leu	rs371427184	missense variant	-	NC_000009.12:g.136475283G>A	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Val779Met	rs747567683	missense variant	-	NC_000009.12:g.136475281C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val779Leu	rs747567683	missense variant	-	NC_000009.12:g.136475281C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser781Thr	rs1168231140	missense variant	-	NC_000009.12:g.136475274C>G	TOPMed
SEC16A	O15027	p.Arg782Ter	rs758756567	stop gained	-	NC_000009.12:g.136475272G>A	ExAC,gnomAD
SEC16A	O15027	p.Arg782Gln	rs753111147	missense variant	-	NC_000009.12:g.136475271C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg782Gly	rs758756567	missense variant	-	NC_000009.12:g.136475272G>C	ExAC,gnomAD
SEC16A	O15027	p.Ile785Phe	rs755252020	missense variant	-	NC_000009.12:g.136475263T>A	ExAC,gnomAD
SEC16A	O15027	p.Gly786Arg	rs754072791	missense variant	-	NC_000009.12:g.136475260C>G	ExAC,gnomAD
SEC16A	O15027	p.Ala787Thr	rs1461882086	missense variant	-	NC_000009.12:g.136475257C>T	TOPMed
SEC16A	O15027	p.Leu791Phe	rs1432234031	missense variant	-	NC_000009.12:g.136475245G>A	TOPMed
SEC16A	O15027	p.Glu792Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.136475242C>A	NCI-TCGA
SEC16A	O15027	p.Pro794Leu	rs147304071	missense variant	-	NC_000009.12:g.136475235G>A	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Pro794Ser	COSM3655757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136475236G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Pro795Leu	rs751602146	missense variant	-	NC_000009.12:g.136475232G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys796Arg	rs762730684	missense variant	-	NC_000009.12:g.136475229T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu799Gln	COSM3413466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136475221C>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Leu803Arg	rs769438475	missense variant	-	NC_000009.12:g.136475208A>C	ExAC,gnomAD
SEC16A	O15027	p.Leu803Pro	rs769438475	missense variant	-	NC_000009.12:g.136475208A>G	ExAC,gnomAD
SEC16A	O15027	p.Gln804Arg	rs1276697065	missense variant	-	NC_000009.12:g.136475205T>C	TOPMed
SEC16A	O15027	p.Ser805Cys	rs1379167728	missense variant	-	NC_000009.12:g.136475202G>C	gnomAD
SEC16A	O15027	p.Gln806Leu	COSM3655755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136475199T>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gln806His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475198C>A	NCI-TCGA
SEC16A	O15027	p.Ala807Thr	rs549050600	missense variant	-	NC_000009.12:g.136475197C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala807Val	rs1472227058	missense variant	-	NC_000009.12:g.136475196G>A	gnomAD
SEC16A	O15027	p.Ser809Tyr	rs1486763869	missense variant	-	NC_000009.12:g.136475190G>T	gnomAD
SEC16A	O15027	p.Ser809Ala	rs770490224	missense variant	-	NC_000009.12:g.136475191A>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly810Asp	rs746518793	missense variant	-	NC_000009.12:g.136475187C>T	ExAC,gnomAD
SEC16A	O15027	p.Tyr811His	rs777080815	missense variant	-	NC_000009.12:g.136475185A>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr811Cys	rs1286796413	missense variant	-	NC_000009.12:g.136475184T>C	gnomAD
SEC16A	O15027	p.Ser816Phe	rs1350442597	missense variant	-	NC_000009.12:g.136475169G>A	gnomAD
SEC16A	O15027	p.Pro818Leu	rs199651983	missense variant	-	NC_000009.12:g.136475163G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr820Ala	rs779398910	missense variant	-	NC_000009.12:g.136475158T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln824Arg	rs1445375713	missense variant	-	NC_000009.12:g.136475145T>C	gnomAD
SEC16A	O15027	p.Asn825Ser	rs368510870	missense variant	-	NC_000009.12:g.136475142T>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro826Leu	rs1264167795	missense variant	-	NC_000009.12:g.136475139G>A	gnomAD
SEC16A	O15027	p.Pro827Ser	rs1159604190	missense variant	-	NC_000009.12:g.136475137G>A	gnomAD
SEC16A	O15027	p.Leu829Trp	rs1156995742	missense variant	-	NC_000009.12:g.136475130A>C	gnomAD
SEC16A	O15027	p.Leu829Val	rs780409880	missense variant	-	NC_000009.12:g.136475131A>C	ExAC,gnomAD
SEC16A	O15027	p.Pro833Leu	rs374758597	missense variant	-	NC_000009.12:g.136475118G>A	TOPMed
SEC16A	O15027	p.His835Tyr	rs750517376	missense variant	-	NC_000009.12:g.136475113G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His835Asp	rs750517376	missense variant	-	NC_000009.12:g.136475113G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser836Gly	rs767436508	missense variant	-	NC_000009.12:g.136475110T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser836Thr	rs762967801	missense variant	-	NC_000009.12:g.136475109C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser836Asn	rs762967801	missense variant	-	NC_000009.12:g.136475109C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn838Ile	rs1260226284	missense variant	-	NC_000009.12:g.136475103T>A	gnomAD
SEC16A	O15027	p.Asn838Asp	rs1344309746	missense variant	-	NC_000009.12:g.136475104T>C	TOPMed
SEC16A	O15027	p.Ala840Thr	rs752548807	missense variant	-	NC_000009.12:g.136475098C>T	ExAC,gnomAD
SEC16A	O15027	p.Gln841Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475094T>G	NCI-TCGA
SEC16A	O15027	p.Pro842Arg	rs1397737503	missense variant	-	NC_000009.12:g.136475091G>C	TOPMed
SEC16A	O15027	p.Asn844His	rs989792670	missense variant	-	NC_000009.12:g.136475086T>G	TOPMed,gnomAD
SEC16A	O15027	p.Phe845Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475083A>G	NCI-TCGA
SEC16A	O15027	p.Phe845Ser	rs759317094	missense variant	-	NC_000009.12:g.136475082A>G	ExAC,gnomAD
SEC16A	O15027	p.Phe845Cys	rs759317094	missense variant	-	NC_000009.12:g.136475082A>C	ExAC,gnomAD
SEC16A	O15027	p.Ser846Ala	rs1234582467	missense variant	-	NC_000009.12:g.136475080A>C	gnomAD
SEC16A	O15027	p.Val847Met	rs1222901653	missense variant	-	NC_000009.12:g.136475077C>T	gnomAD
SEC16A	O15027	p.Ser848Pro	rs201440860	missense variant	-	NC_000009.12:g.136475074A>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser848Cys	rs1311395493	missense variant	-	NC_000009.12:g.136475073G>C	gnomAD
SEC16A	O15027	p.Ser850Pro	rs370661510	missense variant	-	NC_000009.12:g.136475068A>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser850Trp	rs1289205763	missense variant	-	NC_000009.12:g.136475067G>C	TOPMed,gnomAD
SEC16A	O15027	p.Ser850Leu	rs1289205763	missense variant	-	NC_000009.12:g.136475067G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ser850Leu	rs1289205763	missense variant	-	NC_000009.12:g.136475067G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ser852Cys	rs771445332	missense variant	-	NC_000009.12:g.136475061G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His853Tyr	rs779264673	missense variant	-	NC_000009.12:g.136475059G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His853Arg	rs1461903410	missense variant	-	NC_000009.12:g.136475058T>C	gnomAD
SEC16A	O15027	p.His853Asn	rs779264673	missense variant	-	NC_000009.12:g.136475059G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys855Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475051C>A	NCI-TCGA
SEC16A	O15027	p.Lys855Arg	rs1369059278	missense variant	-	NC_000009.12:g.136475052T>C	TOPMed,gnomAD
SEC16A	O15027	p.Ser858Phe	rs769199760	missense variant	-	NC_000009.12:g.136475043G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser858Cys	rs769199760	missense variant	-	NC_000009.12:g.136475043G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu861Gly	rs1422230417	missense variant	-	NC_000009.12:g.136475034T>C	gnomAD
SEC16A	O15027	p.Glu861Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136475034T>A	NCI-TCGA
SEC16A	O15027	p.Pro868Leu	rs1397749665	missense variant	-	NC_000009.12:g.136475013G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala869Ser	rs1471119320	missense variant	-	NC_000009.12:g.136475011C>A	TOPMed
SEC16A	O15027	p.Ala869Val	rs762701587	missense variant	-	NC_000009.12:g.136475010G>A	gnomAD
SEC16A	O15027	p.Ser871Asn	rs1216026874	missense variant	-	NC_000009.12:g.136475004C>T	gnomAD
SEC16A	O15027	p.Ser872Arg	rs377592558	missense variant	-	NC_000009.12:g.136475002T>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser872Thr	rs1264301687	missense variant	-	NC_000009.12:g.136475001C>G	gnomAD
SEC16A	O15027	p.Ala874Val	rs1242045085	missense variant	-	NC_000009.12:g.136474995G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala874Asp	rs1242045085	missense variant	-	NC_000009.12:g.136474995G>T	TOPMed,gnomAD
SEC16A	O15027	p.Leu875Ile	rs756415898	missense variant	-	NC_000009.12:g.136474993G>T	ExAC,gnomAD
SEC16A	O15027	p.Gly876Ser	rs373187238	missense variant	-	NC_000009.12:g.136474990C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly876Cys	rs373187238	missense variant	-	NC_000009.12:g.136474990C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp878Asn	COSM1489816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474984C>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Asp878Gly	rs1333916163	missense variant	-	NC_000009.12:g.136474983T>C	TOPMed
SEC16A	O15027	p.Ser879Tyr	rs1441493574	missense variant	-	NC_000009.12:g.136474980G>T	TOPMed,gnomAD
SEC16A	O15027	p.SerGlyGlu879Ter	rs1389948188	stop gained	-	NC_000009.12:g.136474975_136474980del	gnomAD
SEC16A	O15027	p.Glu881Asp	rs754844410	missense variant	-	NC_000009.12:g.136474973C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu881Lys	rs1445008267	missense variant	-	NC_000009.12:g.136474975C>T	TOPMed
SEC16A	O15027	p.Asn882Lys	rs1456516936	missense variant	-	NC_000009.12:g.136474970G>T	TOPMed,gnomAD
SEC16A	O15027	p.Thr883Ala	rs1356484105	missense variant	-	NC_000009.12:g.136474969T>C	gnomAD
SEC16A	O15027	p.Ser884Tyr	rs1169404613	missense variant	-	NC_000009.12:g.136474965G>T	gnomAD
SEC16A	O15027	p.Ser884Cys	rs1169404613	missense variant	-	NC_000009.12:g.136474965G>C	gnomAD
SEC16A	O15027	p.Ser886GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136474957_136474960CAGA>-	NCI-TCGA
SEC16A	O15027	p.Gly887Glu	rs200238338	missense variant	-	NC_000009.12:g.136474956C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro889Ser	rs772707536	missense variant	-	NC_000009.12:g.136474951G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro889Leu	rs1348828710	missense variant	-	NC_000009.12:g.136474950G>A	TOPMed
SEC16A	O15027	p.Thr890Ala	rs577515946	missense variant	-	NC_000009.12:g.136474948T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val893Ile	rs774989264	missense variant	-	NC_000009.12:g.136474939C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser895Gly	rs117836955	missense variant	-	NC_000009.12:g.136474933T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro899Leu	rs1182449706	missense variant	-	NC_000009.12:g.136474920G>A	TOPMed
SEC16A	O15027	p.Pro899Ser	rs770240738	missense variant	-	NC_000009.12:g.136474921G>A	ExAC,gnomAD
SEC16A	O15027	p.Ser900Arg	rs1437302809	missense variant	-	NC_000009.12:g.136474916G>T	TOPMed
SEC16A	O15027	p.Ser900Gly	rs746152731	missense variant	-	NC_000009.12:g.136474918T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser901Arg	rs781261154	missense variant	-	NC_000009.12:g.136474913A>C	ExAC,gnomAD
SEC16A	O15027	p.Ser901Cys	COSM487228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474915T>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ser901Asn	rs892241296	missense variant	-	NC_000009.12:g.136474914C>T	TOPMed
SEC16A	O15027	p.Asn906His	rs894760948	missense variant	-	NC_000009.12:g.136474900T>G	gnomAD
SEC16A	O15027	p.Gly910Asp	rs747067371	missense variant	-	NC_000009.12:g.136474887C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly912Ala	rs1056585021	missense variant	-	NC_000009.12:g.136474881C>G	TOPMed
SEC16A	O15027	p.Ala913Thr	rs939205030	missense variant	-	NC_000009.12:g.136474879C>T	TOPMed
SEC16A	O15027	p.Glu915Lys	rs376549395	missense variant	-	NC_000009.12:g.136474873C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu915Lys	rs376549395	missense variant	-	NC_000009.12:g.136474873C>T	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Glu915Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474871T>G	NCI-TCGA
SEC16A	O15027	p.Met916Val	rs1330168071	missense variant	-	NC_000009.12:g.136474870T>C	TOPMed
SEC16A	O15027	p.Met916Ile	rs753735507	missense variant	-	NC_000009.12:g.136474868C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn919Ser	rs766204125	missense variant	-	NC_000009.12:g.136474860T>C	ExAC,gnomAD
SEC16A	O15027	p.Ala922Gly	rs1197301533	missense variant	-	NC_000009.12:g.136474851G>C	TOPMed,gnomAD
SEC16A	O15027	p.Ala922Val	rs1197301533	missense variant	-	NC_000009.12:g.136474851G>A	TOPMed,gnomAD
SEC16A	O15027	p.Asn923Ser	rs1421399520	missense variant	-	NC_000009.12:g.136474848T>C	TOPMed,gnomAD
SEC16A	O15027	p.Asn923Thr	rs1421399520	missense variant	-	NC_000009.12:g.136474848T>G	TOPMed,gnomAD
SEC16A	O15027	p.Asn923Tyr	rs1191811852	missense variant	-	NC_000009.12:g.136474849T>A	gnomAD
SEC16A	O15027	p.Leu925Pro	rs750146521	missense variant	-	NC_000009.12:g.136474842A>G	ExAC,gnomAD
SEC16A	O15027	p.Val926Ile	rs767071000	missense variant	-	NC_000009.12:g.136474840C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln927Ter	rs1259266759	stop gained	-	NC_000009.12:g.136474837G>A	TOPMed,gnomAD
SEC16A	O15027	p.Gln927Glu	rs1259266759	missense variant	-	NC_000009.12:g.136474837G>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro929Leu	rs117160782	missense variant	-	NC_000009.12:g.136474830G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser930Pro	rs1254037378	missense variant	-	NC_000009.12:g.136474828A>G	gnomAD
SEC16A	O15027	p.Gln931Ter	rs1257398987	stop gained	-	NC_000009.12:g.136474825G>A	TOPMed
SEC16A	O15027	p.Pro932Arg	rs1264188523	missense variant	-	NC_000009.12:g.136474821G>C	TOPMed,gnomAD
SEC16A	O15027	p.Val933Ile	rs202234045	missense variant	-	NC_000009.12:g.136474819C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val933Ala	rs1253097262	missense variant	-	NC_000009.12:g.136474818A>G	TOPMed
SEC16A	O15027	p.Pro934Arg	rs1432023567	missense variant	-	NC_000009.12:g.136474815G>C	TOPMed
SEC16A	O15027	p.Pro934Ala	rs369182790	missense variant	-	NC_000009.12:g.136474816G>C	ESP,ExAC,gnomAD
SEC16A	O15027	p.Glu935Asp	rs1409334084	missense variant	-	NC_000009.12:g.136474811C>G	gnomAD
SEC16A	O15027	p.Glu935Gln	COSM1489814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474813C>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Glu935Gly	COSM1137972	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474812T>C	NCI-TCGA Cosmic
SEC16A	O15027	p.Glu935Asp	COSM1106827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474811C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Val938Ala	rs1336462233	missense variant	-	NC_000009.12:g.136474803A>G	gnomAD
SEC16A	O15027	p.Pro939Ser	COSM3655753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474801G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gln942Arg	rs746218746	missense variant	-	NC_000009.12:g.136474791T>C	ExAC,gnomAD
SEC16A	O15027	p.Arg945Leu	rs758443281	missense variant	-	NC_000009.12:g.136474782C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg945Cys	rs751066212	missense variant	-	NC_000009.12:g.136474783G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg945His	rs758443281	missense variant	-	NC_000009.12:g.136474782C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg945His	rs758443281	missense variant	-	NC_000009.12:g.136474782C>T	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Ala947Thr	COSM284853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474777C>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Ala947Val	rs987921893	missense variant	-	NC_000009.12:g.136474776G>A	TOPMed,gnomAD
SEC16A	O15027	p.Gly948Arg	rs749271130	missense variant	-	NC_000009.12:g.136474774C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly948Glu	rs779952970	missense variant	-	NC_000009.12:g.136474773C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser949Thr	rs756003204	missense variant	-	NC_000009.12:g.136474770C>G	ExAC,gnomAD
SEC16A	O15027	p.Ala950Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474767G>T	NCI-TCGA
SEC16A	O15027	p.Leu951Phe	rs542716513	missense variant	-	NC_000009.12:g.136474765G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro952Leu	rs756878436	missense variant	-	NC_000009.12:g.136474761G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro952Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474762G>A	NCI-TCGA
SEC16A	O15027	p.Pro952Ala	rs780979016	missense variant	-	NC_000009.12:g.136474762G>C	ExAC
SEC16A	O15027	p.Gly953Arg	rs763734645	missense variant	-	NC_000009.12:g.136474759C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly953Arg	rs763734645	missense variant	-	NC_000009.12:g.136474759C>T	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Phe954Ser	rs1277329349	missense variant	-	NC_000009.12:g.136474755A>G	TOPMed
SEC16A	O15027	p.Asn956Asp	rs1227846105	missense variant	-	NC_000009.12:g.136474750T>C	gnomAD
SEC16A	O15027	p.Ser957Ile	rs538446092	missense variant	-	NC_000009.12:g.136474746C>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro958LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136474743G>-	NCI-TCGA
SEC16A	O15027	p.Ser961Thr	rs375741753	missense variant	-	NC_000009.12:g.136474734C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser961Asn	COSM3699283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474734C>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Val964Met	rs760034925	missense variant	-	NC_000009.12:g.136474726C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro969Leu	rs760929453	missense variant	-	NC_000009.12:g.136474710G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro969Arg	rs760929453	missense variant	-	NC_000009.12:g.136474710G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro969Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474711G>T	NCI-TCGA
SEC16A	O15027	p.His971Pro	rs1472248676	missense variant	-	NC_000009.12:g.136474704T>G	gnomAD
SEC16A	O15027	p.His971Tyr	rs1163358193	missense variant	-	NC_000009.12:g.136474705G>A	gnomAD
SEC16A	O15027	p.Gly972Ser	rs1168300165	missense variant	-	NC_000009.12:g.136474702C>T	gnomAD
SEC16A	O15027	p.Val975Gly	rs372112362	missense variant	-	NC_000009.12:g.136474692A>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp977His	rs765140740	missense variant	-	NC_000009.12:g.136474687C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp977Tyr	rs765140740	missense variant	-	NC_000009.12:g.136474687C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn979Ser	COSM3905721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474680T>C	NCI-TCGA Cosmic
SEC16A	O15027	p.Ala981Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474674G>A	NCI-TCGA
SEC16A	O15027	p.His983Tyr	rs745766088	missense variant	-	NC_000009.12:g.136474669G>A	ExAC,gnomAD
SEC16A	O15027	p.His983Arg	rs1355866586	missense variant	-	NC_000009.12:g.136474668T>C	gnomAD
SEC16A	O15027	p.Ser985Arg	rs1291829869	missense variant	-	NC_000009.12:g.136474663T>G	TOPMed
SEC16A	O15027	p.Ser985Arg	rs1230908211	missense variant	-	NC_000009.12:g.136474661A>T	gnomAD
SEC16A	O15027	p.Ser985Asn	rs1387503484	missense variant	-	NC_000009.12:g.136474662C>T	TOPMed
SEC16A	O15027	p.Glu988Lys	rs780878318	missense variant	-	NC_000009.12:g.136474654C>T	ExAC,gnomAD
SEC16A	O15027	p.Thr990Ala	rs1382979627	missense variant	-	NC_000009.12:g.136474648T>C	TOPMed
SEC16A	O15027	p.Thr990Ile	rs757043076	missense variant	-	NC_000009.12:g.136474647G>A	ExAC,gnomAD
SEC16A	O15027	p.Thr990Ala	rs1382979627	missense variant	-	NC_000009.12:g.136474648T>C	NCI-TCGA Cosmic
SEC16A	O15027	p.Tyr991Cys	rs1177128865	missense variant	-	NC_000009.12:g.136474644T>C	TOPMed,gnomAD
SEC16A	O15027	p.Tyr991Ter	rs771998195	stop gained	-	NC_000009.12:g.136474644dup	ExAC
SEC16A	O15027	p.Tyr991Ter	rs781756872	stop gained	-	NC_000009.12:g.136474643G>C	ExAC,TOPMed
SEC16A	O15027	p.Gly992Arg	rs758060948	missense variant	-	NC_000009.12:g.136474642C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly992Glu	COSM284851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474641C>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Gly992Arg	rs758060948	missense variant	-	NC_000009.12:g.136474642C>T	NCI-TCGA
SEC16A	O15027	p.Ala993Thr	rs11788702	missense variant	-	NC_000009.12:g.136474639C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr997Ala	rs73670288	missense variant	-	NC_000009.12:g.136474627T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr997Ile	rs1261956148	missense variant	-	NC_000009.12:g.136474626G>A	TOPMed
SEC16A	O15027	p.Thr1001Ile	rs148167113	missense variant	-	NC_000009.12:g.136474614G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr1001Ala	rs1388120036	missense variant	-	NC_000009.12:g.136474615T>C	gnomAD
SEC16A	O15027	p.Leu1002Ser	rs377422446	missense variant	-	NC_000009.12:g.136474611A>G	ESP,ExAC,gnomAD
SEC16A	O15027	p.Pro1005His	rs1478954142	missense variant	-	NC_000009.12:g.136474602G>T	gnomAD
SEC16A	O15027	p.Pro1005Ser	rs773489331	missense variant	-	NC_000009.12:g.136474603G>A	ExAC,gnomAD
SEC16A	O15027	p.Asn1007Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474597T>C	NCI-TCGA
SEC16A	O15027	p.Val1008Met	rs551893808	missense variant	-	NC_000009.12:g.136474594C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1008Ala	rs1190488001	missense variant	-	NC_000009.12:g.136474593A>G	TOPMed
SEC16A	O15027	p.Val1008Met	rs551893808	missense variant	-	NC_000009.12:g.136474594C>T	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Tyr1009Cys	rs1451053188	missense variant	-	NC_000009.12:g.136474590T>C	gnomAD
SEC16A	O15027	p.Asn1010Ser	rs774312401	missense variant	-	NC_000009.12:g.136474587T>C	ExAC,gnomAD
SEC16A	O15027	p.Asn1010Ser	rs774312401	missense variant	-	NC_000009.12:g.136474587T>C	NCI-TCGA
SEC16A	O15027	p.Pro1011Ser	rs768738608	missense variant	-	NC_000009.12:g.136474585G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1011Leu	rs533340734	missense variant	-	NC_000009.12:g.136474584G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1011Thr	rs768738608	missense variant	-	NC_000009.12:g.136474585G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1012Tyr	rs770919206	missense variant	-	NC_000009.12:g.136474581G>T	ExAC,TOPMed
SEC16A	O15027	p.Ser1012Phe	rs770919206	missense variant	-	NC_000009.12:g.136474581G>A	ExAC,TOPMed
SEC16A	O15027	p.Asp1015Gly	rs746808121	missense variant	-	NC_000009.12:g.136474572T>C	ExAC,gnomAD
SEC16A	O15027	p.Ser1016Asn	rs1328782193	missense variant	-	NC_000009.12:g.136474569C>T	gnomAD
SEC16A	O15027	p.Ala1018Thr	rs181499163	missense variant	-	NC_000009.12:g.136474564C>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Ala1018Val	rs536379281	missense variant	-	NC_000009.12:g.136474563G>A	gnomAD
SEC16A	O15027	p.Ala1018Thr	rs181499163	missense variant	-	NC_000009.12:g.136474564C>T	NCI-TCGA
SEC16A	O15027	p.Ser1019Cys	rs529633538	missense variant	-	NC_000009.12:g.136474560G>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1020Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.136474558G>A	NCI-TCGA
SEC16A	O15027	p.Gln1021Arg	rs377041553	missense variant	-	NC_000009.12:g.136474554T>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1021Arg	NCI-TCGA novel	inframe deletion	-	NC_000009.12:g.136474552_136474554TTT>-	NCI-TCGA
SEC16A	O15027	p.Ser1022Arg	rs73670287	missense variant	-	NC_000009.12:g.136474550A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1024Val	rs369678976	missense variant	-	NC_000009.12:g.136474545G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1024Asp	rs369678976	missense variant	-	NC_000009.12:g.136474545G>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1025Gly	rs1184505577	missense variant	-	NC_000009.12:g.136474543T>C	gnomAD
SEC16A	O15027	p.Ser1025Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474542C>T	NCI-TCGA
SEC16A	O15027	p.His1026Arg	rs1317025208	missense variant	-	NC_000009.12:g.136474539T>C	TOPMed
SEC16A	O15027	p.Pro1027Leu	rs375839951	missense variant	-	NC_000009.12:g.136474536G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1027His	rs375839951	missense variant	-	NC_000009.12:g.136474536G>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1030Ala	rs1203440099	missense variant	-	NC_000009.12:g.136474528A>C	gnomAD
SEC16A	O15027	p.Ser1030Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474527G>C	NCI-TCGA
SEC16A	O15027	p.Pro1032Thr	rs1314253144	missense variant	-	NC_000009.12:g.136474522G>T	gnomAD
SEC16A	O15027	p.Gly1033Glu	rs1279787355	missense variant	-	NC_000009.12:g.136474518C>T	gnomAD
SEC16A	O15027	p.Ala1034Val	rs375912726	missense variant	-	NC_000009.12:g.136474515G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1035Leu	rs956436315	missense variant	-	NC_000009.12:g.136474512G>A	TOPMed
SEC16A	O15027	p.Asn1036Asp	rs763086465	missense variant	-	NC_000009.12:g.136474510T>C	ExAC,gnomAD
SEC16A	O15027	p.Leu1037Ile	rs1305856272	missense variant	-	NC_000009.12:g.136474507G>T	TOPMed,gnomAD
SEC16A	O15027	p.Leu1037Pro	COSM5094211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474506A>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Asp1038His	COSM1489812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474504C>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Asp1038Asn	rs371501249	missense variant	-	NC_000009.12:g.136474504C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1038Glu	rs1440450850	missense variant	-	NC_000009.12:g.136474502G>T	TOPMed
SEC16A	O15027	p.Arg1039Ser	rs3812594	missense variant	-	NC_000009.12:g.136474501G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1039His	rs746894213	missense variant	-	NC_000009.12:g.136474500C>T	ExAC,gnomAD
SEC16A	O15027	p.Arg1039Cys	rs3812594	missense variant	-	NC_000009.12:g.136474501G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Phe1040Ser	rs1412668784	missense variant	-	NC_000009.12:g.136474497A>G	gnomAD
SEC16A	O15027	p.Tyr1041Cys	rs1414144467	missense variant	-	NC_000009.12:g.136474494T>C	gnomAD
SEC16A	O15027	p.Gln1043His	rs1161458497	missense variant	-	NC_000009.12:g.136474487C>A	gnomAD
SEC16A	O15027	p.Gln1043Pro	rs1436799042	missense variant	-	NC_000009.12:g.136474488T>G	TOPMed
SEC16A	O15027	p.Gln1043Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474488T>C	NCI-TCGA
SEC16A	O15027	p.Val1044Leu	rs991875908	missense variant	-	NC_000009.12:g.136474486C>G	TOPMed,gnomAD
SEC16A	O15027	p.Val1044Ala	COSM3905717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474485A>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Val1044Ile	rs991875908	missense variant	-	NC_000009.12:g.136474486C>T	TOPMed,gnomAD
SEC16A	O15027	p.Thr1045Met	rs771965714	missense variant	-	NC_000009.12:g.136474482G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr1045Lys	rs771965714	missense variant	-	NC_000009.12:g.136474482G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys1046Arg	rs1484376932	missense variant	-	NC_000009.12:g.136474479T>C	gnomAD
SEC16A	O15027	p.Ala1048Val	rs376001506	missense variant	-	NC_000009.12:g.136474473G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1048Thr	rs1209917792	missense variant	-	NC_000009.12:g.136474474C>T	gnomAD
SEC16A	O15027	p.Ala1048Ser	rs1209917792	missense variant	-	NC_000009.12:g.136474474C>A	gnomAD
SEC16A	O15027	p.Gln1049His	rs748832328	missense variant	-	NC_000009.12:g.136474469C>A	ExAC,gnomAD
SEC16A	O15027	p.Gly1050Asp	rs779370862	missense variant	-	NC_000009.12:g.136474467C>T	ExAC,gnomAD
SEC16A	O15027	p.Gln1051His	rs1372801544	missense variant	-	NC_000009.12:g.136474463C>G	TOPMed
SEC16A	O15027	p.Pro1052Ala	rs1234590500	missense variant	-	NC_000009.12:g.136474462G>C	TOPMed
SEC16A	O15027	p.Glu1055Gln	rs553149111	missense variant	-	NC_000009.12:g.136474453C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1055Gly	rs1382700647	missense variant	-	NC_000009.12:g.136474452T>C	gnomAD
SEC16A	O15027	p.Glu1055Lys	rs553149111	missense variant	-	NC_000009.12:g.136474453C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1056Gly	rs1379507605	missense variant	-	NC_000009.12:g.136474450T>C	gnomAD
SEC16A	O15027	p.Ala1057Val	rs1302012779	missense variant	-	NC_000009.12:g.136474446G>A	gnomAD
SEC16A	O15027	p.Gln1058Arg	rs898965484	missense variant	-	NC_000009.12:g.136474443T>C	TOPMed,gnomAD
SEC16A	O15027	p.Gln1059Arg	rs1456647638	missense variant	-	NC_000009.12:g.136474440T>C	gnomAD
SEC16A	O15027	p.Gln1059Glu	rs751785608	missense variant	-	NC_000009.12:g.136474441G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1059His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474439C>A	NCI-TCGA
SEC16A	O15027	p.Gln1059Ter	rs751785608	stop gained	-	NC_000009.12:g.136474441G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1061Met	rs1236446878	missense variant	-	NC_000009.12:g.136474435G>T	TOPMed
SEC16A	O15027	p.Val1062Ala	rs7022785	missense variant	-	NC_000009.12:g.136474431A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1062Met	rs764383514	missense variant	-	NC_000009.12:g.136474432C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1062Leu	rs764383514	missense variant	-	NC_000009.12:g.136474432C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1063Leu	rs1414845746	missense variant	-	NC_000009.12:g.136474428G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro1063Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474429G>A	NCI-TCGA
SEC16A	O15027	p.Pro1064Ser	rs368300787	missense variant	-	NC_000009.12:g.136474426G>A	ESP,ExAC,gnomAD
SEC16A	O15027	p.Pro1064Ala	rs368300787	missense variant	-	NC_000009.12:g.136474426G>C	ESP,ExAC,gnomAD
SEC16A	O15027	p.Gln1067Arg	rs760738636	missense variant	-	NC_000009.12:g.136474416T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1068Val	rs772053581	missense variant	-	NC_000009.12:g.136474413G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1071Arg	rs748839439	missense variant	-	NC_000009.12:g.136474404G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1071Leu	rs748839439	missense variant	-	NC_000009.12:g.136474404G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1071Gln	rs748839439	missense variant	-	NC_000009.12:g.136474404G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1072Pro	rs769263304	missense variant	-	NC_000009.12:g.136474401T>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1074Ser	rs1052182766	missense variant	-	NC_000009.12:g.136474396G>A	TOPMed
SEC16A	O15027	p.Lys1075Thr	rs781654133	missense variant	-	NC_000009.12:g.136474392T>G	ExAC,gnomAD
SEC16A	O15027	p.Met1077Leu	rs757640396	missense variant	-	NC_000009.12:g.136474387T>G	ExAC,gnomAD
SEC16A	O15027	p.Met1077Val	rs757640396	missense variant	-	NC_000009.12:g.136474387T>C	ExAC,gnomAD
SEC16A	O15027	p.Phe1078Leu	COSM1106825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474384A>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Ser1079Leu	rs751969115	missense variant	-	NC_000009.12:g.136474380G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1080Gly	rs1482084211	missense variant	-	NC_000009.12:g.136474377T>C	gnomAD
SEC16A	O15027	p.Asn1083Ser	rs758678274	missense variant	-	NC_000009.12:g.136474368T>C	ExAC,gnomAD
SEC16A	O15027	p.Glu1085Lys	rs1279225560	missense variant	-	NC_000009.12:g.136474363C>T	gnomAD
SEC16A	O15027	p.Glu1085Val	rs1240205210	missense variant	-	NC_000009.12:g.136474362T>A	gnomAD
SEC16A	O15027	p.Ser1086Asn	rs1280474720	missense variant	-	NC_000009.12:g.136474359C>T	TOPMed
SEC16A	O15027	p.Pro1088Ser	rs1164273348	missense variant	-	NC_000009.12:g.136474354G>A	gnomAD
SEC16A	O15027	p.Ala1089Ser	rs537040519	missense variant	-	NC_000009.12:g.136474351C>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1089Thr	rs537040519	missense variant	-	NC_000009.12:g.136474351C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1089Val	rs201172869	missense variant	-	NC_000009.12:g.136474350G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1090Arg	rs762707671	missense variant	-	NC_000009.12:g.136474347T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1091Arg	rs1192420124	missense variant	-	NC_000009.12:g.136474345C>T	gnomAD
SEC16A	O15027	p.Gly1091Glu	rs1488490593	missense variant	-	NC_000009.12:g.136474344C>T	gnomAD
SEC16A	O15027	p.Ala1093Gly	rs989094715	missense variant	-	NC_000009.12:g.136474338G>C	TOPMed,gnomAD
SEC16A	O15027	p.Ala1093Pro	rs769349554	missense variant	-	NC_000009.12:g.136474339C>G	ExAC,gnomAD
SEC16A	O15027	p.Gln1094Arg	rs1275055325	missense variant	-	NC_000009.12:g.136474335T>C	gnomAD
SEC16A	O15027	p.Asn1095Ser	rs551567130	missense variant	-	NC_000009.12:g.136474332T>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn1095Lys	rs780625887	missense variant	-	NC_000009.12:g.136474331G>C	ExAC,gnomAD
SEC16A	O15027	p.Ser1096Pro	rs1303394437	missense variant	-	NC_000009.12:g.136474330A>G	TOPMed,gnomAD
SEC16A	O15027	p.Ser1096Ala	rs1303394437	missense variant	-	NC_000009.12:g.136474330A>C	TOPMed,gnomAD
SEC16A	O15027	p.Ala1097Val	rs771492994	missense variant	-	NC_000009.12:g.136474326G>A	ExAC,gnomAD
SEC16A	O15027	p.Gln1098Leu	rs1340803947	missense variant	-	NC_000009.12:g.136474323T>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro1100Leu	rs1293041696	missense variant	-	NC_000009.12:g.136474317G>A	gnomAD
SEC16A	O15027	p.Ala1101Thr	rs747435143	missense variant	-	NC_000009.12:g.136474315C>T	ExAC
SEC16A	O15027	p.Ser1102Ile	rs778240795	missense variant	-	NC_000009.12:g.136474311C>A	ExAC,gnomAD
SEC16A	O15027	p.Leu1103Val	rs1168472697	missense variant	-	NC_000009.12:g.136474309G>C	TOPMed
SEC16A	O15027	p.Val1104Ile	rs1169618868	missense variant	-	NC_000009.12:g.136474306C>T	TOPMed,gnomAD
SEC16A	O15027	p.Val1104Ala	rs758672511	missense variant	-	NC_000009.12:g.136474305A>G	ExAC,gnomAD
SEC16A	O15027	p.Asp1107Asn	rs1434286402	missense variant	-	NC_000009.12:g.136474297C>T	TOPMed,gnomAD
SEC16A	O15027	p.Ala1108Val	rs781014862	missense variant	-	NC_000009.12:g.136474293G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala1108Thr	rs753978395	missense variant	-	NC_000009.12:g.136474294C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1111His	rs368144823	missense variant	-	NC_000009.12:g.136474283C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1111His	rs368144823	missense variant	-	NC_000009.12:g.136474283C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1114Arg	rs374280849	missense variant	-	NC_000009.12:g.136474275G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1114Leu	rs374280849	missense variant	-	NC_000009.12:g.136474275G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1115Gln	rs1233831098	missense variant	-	NC_000009.12:g.136474272C>T	gnomAD
SEC16A	O15027	p.Arg1115Pro	rs1233831098	missense variant	-	NC_000009.12:g.136474272C>G	gnomAD
SEC16A	O15027	p.Arg1115Trp	rs370328979	missense variant	-	NC_000009.12:g.136474273G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1116Leu	rs143795416	missense variant	-	NC_000009.12:g.136474269G>A	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Pro1116Ser	rs529570854	missense variant	-	NC_000009.12:g.136474270G>A	1000Genomes,gnomAD
SEC16A	O15027	p.Pro1117Leu	rs1221834910	missense variant	-	NC_000009.12:g.136474266G>A	gnomAD
SEC16A	O15027	p.Gln1118Pro	rs1487866749	missense variant	-	NC_000009.12:g.136474263T>G	TOPMed
SEC16A	O15027	p.Gln1118Lys	rs1352549523	missense variant	-	NC_000009.12:g.136474264G>T	TOPMed,gnomAD
SEC16A	O15027	p.Gln1118Lys	rs1352549523	missense variant	-	NC_000009.12:g.136474264G>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Gln1118Glu	rs1352549523	missense variant	-	NC_000009.12:g.136474264G>C	TOPMed,gnomAD
SEC16A	O15027	p.Gln1118Ter	rs1352549523	stop gained	-	NC_000009.12:g.136474264G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ser1119Cys	rs1308808114	missense variant	-	NC_000009.12:g.136474260G>C	gnomAD
SEC16A	O15027	p.Ser1120Phe	rs1391047580	missense variant	-	NC_000009.12:g.136474257G>A	gnomAD
SEC16A	O15027	p.Ser1121Ile	rs1420371935	missense variant	-	NC_000009.12:g.136474254C>A	TOPMed,gnomAD
SEC16A	O15027	p.Ser1121Arg	rs775189091	missense variant	-	NC_000009.12:g.136474253G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1121Gly	COSM6115380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474255T>C	NCI-TCGA Cosmic
SEC16A	O15027	p.Val1122Met	rs759141167	missense variant	-	NC_000009.12:g.136474252C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1122Leu	rs759141167	missense variant	-	NC_000009.12:g.136474252C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1123Cys	rs776150371	missense variant	-	NC_000009.12:g.136474248G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1123Phe	rs776150371	missense variant	-	NC_000009.12:g.136474248G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1126Tyr	rs770317063	missense variant	-	NC_000009.12:g.136474239G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1129Pro	rs1173624450	missense variant	-	NC_000009.12:g.136474231A>G	gnomAD
SEC16A	O15027	p.Ser1129Phe	rs1473317605	missense variant	-	NC_000009.12:g.136474230G>A	TOPMed,gnomAD
SEC16A	O15027	p.Gly1130Ser	rs530404988	missense variant	-	NC_000009.12:g.136474228C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1131Arg	rs1435748869	missense variant	-	NC_000009.12:g.136474224T>C	gnomAD
SEC16A	O15027	p.Ala1132Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474222C>T	NCI-TCGA
SEC16A	O15027	p.Ala1132Glu	rs1200866105	missense variant	-	NC_000009.12:g.136474221G>T	gnomAD
SEC16A	O15027	p.Ala1133Gly	rs1399826848	missense variant	-	NC_000009.12:g.136474218G>C	TOPMed
SEC16A	O15027	p.Pro1135Leu	rs1482884068	missense variant	-	NC_000009.12:g.136474212G>A	TOPMed,gnomAD
SEC16A	O15027	p.Gln1138His	rs779359603	missense variant	-	NC_000009.12:g.136474202C>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1139Ser	rs1289103831	missense variant	-	NC_000009.12:g.136474201G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro1139Leu	rs374605188	missense variant	-	NC_000009.12:g.136474200G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1141Ser	COSM1106823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474195G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gln1142Arg	rs1315233280	missense variant	-	NC_000009.12:g.136474191T>C	gnomAD
SEC16A	O15027	p.Pro1143Leu	rs1397040426	missense variant	-	NC_000009.12:g.136474188G>A	gnomAD
SEC16A	O15027	p.Val1144Leu	rs1335246859	missense variant	-	NC_000009.12:g.136474186C>A	gnomAD
SEC16A	O15027	p.Ala1146Ser	rs1388673928	missense variant	-	NC_000009.12:g.136474180C>A	gnomAD
SEC16A	O15027	p.Ala1146Thr	rs1388673928	missense variant	-	NC_000009.12:g.136474180C>T	gnomAD
SEC16A	O15027	p.Ala1146Val	rs1353247741	missense variant	-	NC_000009.12:g.136474179G>A	TOPMed
SEC16A	O15027	p.Leu1147Pro	rs563330827	missense variant	-	NC_000009.12:g.136474176A>G	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Ala1148Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136474173G>A	NCI-TCGA
SEC16A	O15027	p.Pro1149Ser	COSM3655751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474171G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gly1150Val	rs752513068	missense variant	-	NC_000009.12:g.136474167C>A	ExAC,gnomAD
SEC16A	O15027	p.Gly1150Ser	rs370629613	missense variant	-	NC_000009.12:g.136474168C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1151Arg	rs888908290	missense variant	-	NC_000009.12:g.136474164G>C	gnomAD
SEC16A	O15027	p.Pro1151Leu	rs888908290	missense variant	-	NC_000009.12:g.136474164G>A	gnomAD
SEC16A	O15027	p.Pro1152Leu	rs376257670	missense variant	-	NC_000009.12:g.136474161G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1155Glu	rs765975879	missense variant	-	NC_000009.12:g.136474151G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1156Arg	rs760103181	missense variant	-	NC_000009.12:g.136474149A>C	ExAC,gnomAD
SEC16A	O15027	p.Ala1158Thr	rs774884155	missense variant	-	NC_000009.12:g.136474144C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1158Val	rs1313415407	missense variant	-	NC_000009.12:g.136474143G>A	gnomAD
SEC16A	O15027	p.Tyr1159Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.136474139G>T	NCI-TCGA
SEC16A	O15027	p.Tyr1159Cys	rs749566583	missense variant	-	NC_000009.12:g.136474140T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1159Phe	rs749566583	missense variant	-	NC_000009.12:g.136474140T>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1160Cys	rs756283646	missense variant	-	NC_000009.12:g.136474137T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1160Asn	rs897721531	missense variant	-	NC_000009.12:g.136474138A>T	TOPMed,gnomAD
SEC16A	O15027	p.Tyr1160Asp	rs897721531	missense variant	-	NC_000009.12:g.136474138A>C	TOPMed,gnomAD
SEC16A	O15027	p.Tyr1162Cys	rs745937494	missense variant	-	NC_000009.12:g.136474131T>C	ExAC,gnomAD
SEC16A	O15027	p.Tyr1162His	rs777411322	missense variant	-	NC_000009.12:g.136474132A>G	gnomAD
SEC16A	O15027	p.Arg1163Gln	rs199822604	missense variant	-	NC_000009.12:g.136474128C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1163Trp	rs542852627	missense variant	-	NC_000009.12:g.136474129G>A	TOPMed,gnomAD
SEC16A	O15027	p.Asp1167His	rs754758728	missense variant	-	NC_000009.12:g.136474117C>G	ExAC,gnomAD
SEC16A	O15027	p.Asp1167Gly	COSM1106821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136474116T>C	NCI-TCGA Cosmic
SEC16A	O15027	p.Asp1167Asn	rs754758728	missense variant	-	NC_000009.12:g.136474117C>T	ExAC,gnomAD
SEC16A	O15027	p.Tyr1169Ser	rs753598591	missense variant	-	NC_000009.12:g.136474110T>G	ExAC,gnomAD
SEC16A	O15027	p.Tyr1169Cys	rs753598591	missense variant	-	NC_000009.12:g.136474110T>C	ExAC,gnomAD
SEC16A	O15027	p.Pro1171Ala	rs369174584	missense variant	-	NC_000009.12:g.136474105G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1171Leu	rs1210618622	missense variant	-	NC_000009.12:g.136474104G>A	gnomAD
SEC16A	O15027	p.Gln1172Arg	rs760320898	missense variant	-	NC_000009.12:g.136474101T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1175Ser	rs749920787	missense variant	-	NC_000009.12:g.136474092A>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1176Leu	rs1231162970	missense variant	-	NC_000009.12:g.136474089G>A	gnomAD
SEC16A	O15027	p.Pro1178Ala	rs762445817	missense variant	-	NC_000009.12:g.136474084G>C	ExAC,gnomAD
SEC16A	O15027	p.Pro1179Leu	rs774973782	missense variant	-	NC_000009.12:g.136474080G>A	ExAC,gnomAD
SEC16A	O15027	p.Glu1180Asp	rs1323675953	missense variant	-	NC_000009.12:g.136474076C>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro1181Ser	rs769199830	missense variant	-	NC_000009.12:g.136474075G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1183Thr	rs775854652	missense variant	-	NC_000009.12:g.136474069C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1183Thr	rs775854652	missense variant	-	NC_000009.12:g.136474069C>T	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Ser1185Cys	rs746064192	missense variant	-	NC_000009.12:g.136474062G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1185Phe	rs746064192	missense variant	-	NC_000009.12:g.136474062G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1186Arg	rs770976773	missense variant	-	NC_000009.12:g.136474059A>C	ExAC,gnomAD
SEC16A	O15027	p.Leu1186Phe	rs373058731	missense variant	-	NC_000009.12:g.136474060G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1187Cys	rs1248479074	missense variant	-	NC_000009.12:g.136474056T>C	TOPMed,gnomAD
SEC16A	O15027	p.Gln1189Arg	rs1478582527	missense variant	-	NC_000009.12:g.136474050T>C	TOPMed
SEC16A	O15027	p.Asp1190Val	rs375404168	missense variant	-	NC_000009.12:g.136472110T>A	ESP,TOPMed
SEC16A	O15027	p.Val1191Phe	rs186193641	missense variant	-	NC_000009.12:g.136472108C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1193Asn	rs889888917	missense variant	-	NC_000009.12:g.136472101C>T	TOPMed,gnomAD
SEC16A	O15027	p.Ser1193Arg	rs1335929370	missense variant	-	NC_000009.12:g.136472100G>C	gnomAD
SEC16A	O15027	p.Leu1194Val	rs763646820	missense variant	-	NC_000009.12:g.136472099G>C	ExAC,gnomAD
SEC16A	O15027	p.Tyr1195Cys	rs200721378	missense variant	-	NC_000009.12:g.136472095T>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1195Phe	rs200721378	missense variant	-	NC_000009.12:g.136472095T>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1196Lys	rs753227726	missense variant	-	NC_000009.12:g.136472093C>T	ExAC,gnomAD
SEC16A	O15027	p.Arg1198Ter	rs1407622267	stop gained	-	NC_000009.12:g.136472087G>A	gnomAD
SEC16A	O15027	p.Arg1198Gln	rs1175833008	missense variant	-	NC_000009.12:g.136472086C>T	gnomAD
SEC16A	O15027	p.Arg1198Gln	rs1175833008	missense variant	-	NC_000009.12:g.136472086C>T	NCI-TCGA
SEC16A	O15027	p.Arg1200Ser	rs1333799526	missense variant	-	NC_000009.12:g.136472079C>A	TOPMed,gnomAD
SEC16A	O15027	p.Arg1200Trp	rs776918665	missense variant	-	NC_000009.12:g.136472081T>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1201Ser	rs766605511	missense variant	-	NC_000009.12:g.136472078G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1201Leu	rs760841497	missense variant	-	NC_000009.12:g.136472077G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1202Ser	rs374240602	missense variant	-	NC_000009.12:g.136472074T>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1202Cys	rs374240602	missense variant	-	NC_000009.12:g.136472074T>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1202Phe	rs374240602	missense variant	-	NC_000009.12:g.136472074T>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1203Asn	rs1219428797	missense variant	-	NC_000009.12:g.136472072C>T	gnomAD
SEC16A	O15027	p.Asp1203Val	rs772157297	missense variant	-	NC_000009.12:g.136472071T>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1204Asp	rs374254404	missense variant	-	NC_000009.12:g.136472068C>T	ESP,ExAC,gnomAD
SEC16A	O15027	p.Ala1205Val	rs775480471	missense variant	-	NC_000009.12:g.136472065G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1206Ser	rs769540478	missense variant	-	NC_000009.12:g.136472063C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1206Val	rs150877534	missense variant	-	NC_000009.12:g.136472062G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1207Thr	rs756990427	missense variant	-	NC_000009.12:g.136472060A>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1209Cys	rs777475897	missense variant	-	NC_000009.12:g.136472053T>C	ExAC,gnomAD
SEC16A	O15027	p.Tyr1209Phe	rs777475897	missense variant	-	NC_000009.12:g.136472053T>A	ExAC,gnomAD
SEC16A	O15027	p.Ala1210Thr	rs544662603	missense variant	-	NC_000009.12:g.136472051C>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Asn1212Lys	rs753212791	missense variant	-	NC_000009.12:g.136472043G>C	ExAC,gnomAD
SEC16A	O15027	p.Asn1212Lys	rs753212791	missense variant	-	NC_000009.12:g.136472043G>T	ExAC,gnomAD
SEC16A	O15027	p.Tyr1213His	rs1331766894	missense variant	-	NC_000009.12:g.136472042A>G	gnomAD
SEC16A	O15027	p.Arg1214Ser	rs755385943	missense variant	-	NC_000009.12:g.136472039G>T	ExAC,gnomAD
SEC16A	O15027	p.Arg1214Cys	rs755385943	missense variant	-	NC_000009.12:g.136472039G>A	ExAC,gnomAD
SEC16A	O15027	p.Arg1214His	rs763056662	missense variant	-	NC_000009.12:g.136472038C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1215Cys	rs968420041	missense variant	-	NC_000009.12:g.136472035T>C	TOPMed,gnomAD
SEC16A	O15027	p.Tyr1215Ser	rs968420041	missense variant	-	NC_000009.12:g.136472035T>G	TOPMed,gnomAD
SEC16A	O15027	p.Pro1216Ser	rs766693055	missense variant	-	NC_000009.12:g.136472033G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1216Ala	rs766693055	missense variant	-	NC_000009.12:g.136472033G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1217Lys	rs767547173	missense variant	-	NC_000009.12:g.136472030C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1217Gln	rs767547173	missense variant	-	NC_000009.12:g.136472030C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1218Arg	rs1290723127	missense variant	-	NC_000009.12:g.136472026G>C	TOPMed,gnomAD
SEC16A	O15027	p.Glu1219Lys	rs769784106	missense variant	-	NC_000009.12:g.136472024C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1220Gln	rs776597126	missense variant	-	NC_000009.12:g.136472020C>T	ExAC,gnomAD
SEC16A	O15027	p.Arg1220Trp	rs963694165	missense variant	-	NC_000009.12:g.136472021G>A	gnomAD
SEC16A	O15027	p.Arg1220Gly	rs963694165	missense variant	-	NC_000009.12:g.136472021G>C	gnomAD
SEC16A	O15027	p.Arg1220Leu	rs776597126	missense variant	-	NC_000009.12:g.136472020C>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1221Ser	rs746718353	missense variant	-	NC_000009.12:g.136472018G>A	ExAC,gnomAD
SEC16A	O15027	p.Ser1223Phe	rs1163336315	missense variant	-	NC_000009.12:g.136472011G>A	gnomAD
SEC16A	O15027	p.Arg1224Gln	rs376239396	missense variant	-	NC_000009.12:g.136472008C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1224Pro	rs376239396	missense variant	-	NC_000009.12:g.136472008C>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1224Leu	rs376239396	missense variant	-	NC_000009.12:g.136472008C>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1225Thr	rs1171686747	missense variant	-	NC_000009.12:g.136472006C>T	TOPMed,gnomAD
SEC16A	O15027	p.Ser1226Asn	rs755543118	missense variant	-	NC_000009.12:g.136472002C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His1227Arg	rs754314928	missense variant	-	NC_000009.12:g.136471999T>C	ExAC,gnomAD
SEC16A	O15027	p.Ser1228Phe	rs780442329	missense variant	-	NC_000009.12:g.136471996G>A	ExAC,gnomAD
SEC16A	O15027	p.SerSerGlu1228Ter	rs1251701736	stop gained	-	NC_000009.12:g.136471991_136471996del	gnomAD
SEC16A	O15027	p.Ser1229Trp	rs373370709	missense variant	-	NC_000009.12:g.136471993G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1229Leu	rs373370709	missense variant	-	NC_000009.12:g.136471993G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1230Asp	rs1428026382	missense variant	-	NC_000009.12:g.136471989T>A	TOPMed
SEC16A	O15027	p.Glu1230Lys	COSM753167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136471991C>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Arg1231Trp	rs201366882	missense variant	-	NC_000009.12:g.136471988G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1231Gln	rs377304650	missense variant	-	NC_000009.12:g.136471987C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1231Gly	rs201366882	missense variant	-	NC_000009.12:g.136471988G>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1233Ser	rs1293482673	missense variant	-	NC_000009.12:g.136471982G>A	gnomAD
SEC16A	O15027	p.Pro1234Thr	rs751680877	missense variant	-	NC_000009.12:g.136471979G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1234Ser	rs751680877	missense variant	-	NC_000009.12:g.136471979G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1235Gly	rs1346372866	missense variant	-	NC_000009.12:g.136471976T>C	gnomAD
SEC16A	O15027	p.Tyr1238Cys	rs1262559434	missense variant	-	NC_000009.12:g.136468504T>C	gnomAD
SEC16A	O15027	p.Pro1239Ala	rs1201925959	missense variant	-	NC_000009.12:g.136468502G>C	gnomAD
SEC16A	O15027	p.Glu1240Ter	rs1159442432	stop gained	-	NC_000009.12:g.136468499C>A	TOPMed
SEC16A	O15027	p.Gly1241Ala	rs779478361	missense variant	-	NC_000009.12:g.136468495C>G	ExAC,gnomAD
SEC16A	O15027	p.Tyr1242Cys	rs368615156	missense variant	-	NC_000009.12:g.136468492T>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1243Cys	rs1453963906	missense variant	-	NC_000009.12:g.136468489T>C	gnomAD
SEC16A	O15027	p.Tyr1243His	rs963301372	missense variant	-	NC_000009.12:g.136468490A>G	TOPMed,gnomAD
SEC16A	O15027	p.Ser1244Ile	rs1376119979	missense variant	-	NC_000009.12:g.136468486C>A	TOPMed
SEC16A	O15027	p.Ser1245Tyr	rs781650456	missense variant	-	NC_000009.12:g.136468483G>T	ExAC
SEC16A	O15027	p.Lys1246Asn	rs1334114912	missense variant	-	NC_000009.12:g.136468479T>G	TOPMed,gnomAD
SEC16A	O15027	p.Ser1247Asn	rs776242531	missense variant	-	NC_000009.12:g.136468477C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser1247Arg	rs1385067982	missense variant	-	NC_000009.12:g.136468476A>T	TOPMed,gnomAD
SEC16A	O15027	p.Gly1248Arg	rs1157563363	missense variant	-	NC_000009.12:g.136468475C>G	gnomAD
SEC16A	O15027	p.Trp1249Arg	rs1305746401	missense variant	-	NC_000009.12:g.136468472A>T	TOPMed,gnomAD
SEC16A	O15027	p.Ser1250Gly	rs1369957154	missense variant	-	NC_000009.12:g.136468469T>C	gnomAD
SEC16A	O15027	p.Ser1251Ile	rs1443931072	missense variant	-	NC_000009.12:g.136468465C>A	gnomAD
SEC16A	O15027	p.Ser1251Gly	rs1164022676	missense variant	-	NC_000009.12:g.136468466T>C	gnomAD
SEC16A	O15027	p.Ser1251Cys	rs1164022676	missense variant	-	NC_000009.12:g.136468466T>A	gnomAD
SEC16A	O15027	p.Gln1252Glu	rs374538142	missense variant	-	NC_000009.12:g.136468463G>C	ESP,ExAC,gnomAD
SEC16A	O15027	p.Gln1252Pro	rs1190452747	missense variant	-	NC_000009.12:g.136468462T>G	gnomAD
SEC16A	O15027	p.Ser1253Asn	rs752848487	missense variant	-	NC_000009.12:g.136468459C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1254Asn	rs370969472	missense variant	-	NC_000009.12:g.136468457C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1254Gly	rs750310290	missense variant	-	NC_000009.12:g.136468456T>C	ExAC,gnomAD
SEC16A	O15027	p.Tyr1256His	rs767399521	missense variant	-	NC_000009.12:g.136468451A>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1256Cys	rs1247252495	missense variant	-	NC_000009.12:g.136468450T>C	gnomAD
SEC16A	O15027	p.Tyr1259Phe	rs763746343	missense variant	-	NC_000009.12:g.136468441T>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1259Cys	rs763746343	missense variant	-	NC_000009.12:g.136468441T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1260Ser	rs762542733	missense variant	-	NC_000009.12:g.136468438T>G	ExAC,gnomAD
SEC16A	O15027	p.Ser1261Pro	rs80293091	missense variant	-	NC_000009.12:g.136468436A>G	ExAC,gnomAD
SEC16A	O15027	p.Ser1261Phe	rs746434732	missense variant	-	NC_000009.12:g.136468435G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1261Cys	rs746434732	missense variant	-	NC_000009.12:g.136468435G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1262Arg	rs1327690849	missense variant	-	NC_000009.12:g.136468431G>T	gnomAD
SEC16A	O15027	p.Tyr1264Cys	rs1252239666	missense variant	-	NC_000009.12:g.136468426T>C	TOPMed
SEC16A	O15027	p.Asp1265Asn	rs199951815	missense variant	-	NC_000009.12:g.136468424C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1267Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136468418C>T	NCI-TCGA
SEC16A	O15027	p.Asp1268His	rs758728611	missense variant	-	NC_000009.12:g.136468415C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1268Asn	rs758728611	missense variant	-	NC_000009.12:g.136468415C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1269Ser	rs777965887	missense variant	-	NC_000009.12:g.136467081G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro1269Thr	rs777965887	missense variant	-	NC_000009.12:g.136467081G>T	TOPMed,gnomAD
SEC16A	O15027	p.Arg1274His	rs772546770	missense variant	-	NC_000009.12:g.136467065C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1274Cys	rs773755664	missense variant	-	NC_000009.12:g.136467066G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His1276Tyr	rs1283397834	missense variant	-	NC_000009.12:g.136467060G>A	gnomAD
SEC16A	O15027	p.Arg1280Ser	rs549725311	missense variant	-	NC_000009.12:g.136467046T>G	1000Genomes
SEC16A	O15027	p.Arg1280Gly	rs374820792	missense variant	-	NC_000009.12:g.136467048T>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1283Asn	rs768852948	missense variant	-	NC_000009.12:g.136467039C>T	ExAC,gnomAD
SEC16A	O15027	p.Asp1283Glu	rs1442727845	missense variant	-	NC_000009.12:g.136467037G>T	TOPMed,gnomAD
SEC16A	O15027	p.Arg1285Cys	rs370460222	missense variant	-	NC_000009.12:g.136467033G>A	ESP,ExAC,gnomAD
SEC16A	O15027	p.Arg1285His	rs780129136	missense variant	-	NC_000009.12:g.136467032C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr1286Ala	rs1470933673	missense variant	-	NC_000009.12:g.136467030T>C	TOPMed,gnomAD
SEC16A	O15027	p.Thr1286Ser	rs1470933673	missense variant	-	NC_000009.12:g.136467030T>A	TOPMed,gnomAD
SEC16A	O15027	p.Tyr1287His	rs757170935	missense variant	-	NC_000009.12:g.136467027A>G	ExAC,gnomAD
SEC16A	O15027	p.Arg1289Trp	rs751465419	missense variant	-	NC_000009.12:g.136467021G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1289Gln	rs201659618	missense variant	-	NC_000009.12:g.136467020C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1290Thr	rs193285505	missense variant	-	NC_000009.12:g.136467017C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1291His	rs935715214	missense variant	-	NC_000009.12:g.136467015A>G	TOPMed
SEC16A	O15027	p.Ala1295Val	rs759180660	missense variant	-	NC_000009.12:g.136467002G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala1295Thr	rs764810738	missense variant	-	NC_000009.12:g.136467003C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1296Ala	rs564351781	missense variant	-	NC_000009.12:g.136466999T>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1297His	rs374509896	missense variant	-	NC_000009.12:g.136466997A>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1299Thr	rs376172438	missense variant	-	NC_000009.12:g.136466991C>T	gnomAD
SEC16A	O15027	p.Ala1299Ser	rs376172438	missense variant	-	NC_000009.12:g.136466991C>A	gnomAD
SEC16A	O15027	p.Tyr1300His	rs772634830	missense variant	-	NC_000009.12:g.136466988A>G	ExAC,gnomAD
SEC16A	O15027	p.Arg1301Gly	rs1349630742	missense variant	-	NC_000009.12:g.136466985T>C	gnomAD
SEC16A	O15027	p.Glu1303Gln	rs1277578220	missense variant	-	NC_000009.12:g.136466979C>G	gnomAD
SEC16A	O15027	p.His1304Pro	rs1454490910	missense variant	-	NC_000009.12:g.136466975T>G	gnomAD
SEC16A	O15027	p.Ser1305Thr	rs1310769787	missense variant	-	NC_000009.12:g.136466973A>T	gnomAD
SEC16A	O15027	p.Ala1306Val	rs1451934689	missense variant	-	NC_000009.12:g.136466969G>A	gnomAD
SEC16A	O15027	p.Ala1306Pro	rs1337454926	missense variant	-	NC_000009.12:g.136466970C>G	gnomAD
SEC16A	O15027	p.Phe1307Ser	rs749483820	missense variant	-	NC_000009.12:g.136466966A>G	ExAC,gnomAD
SEC16A	O15027	p.Phe1307Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136466965G>T	NCI-TCGA
SEC16A	O15027	p.Phe1307Val	rs768780044	missense variant	-	NC_000009.12:g.136466967A>C	ExAC,gnomAD
SEC16A	O15027	p.Gly1308Arg	rs769894425	missense variant	-	NC_000009.12:g.136466964C>G	ExAC,gnomAD
SEC16A	O15027	p.Gly1308Arg	rs769894425	missense variant	-	NC_000009.12:g.136466964C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly1308Trp	rs769894425	missense variant	-	NC_000009.12:g.136466964C>A	ExAC,gnomAD
SEC16A	O15027	p.Asp1309Glu	rs1448262805	missense variant	-	NC_000009.12:g.136466959G>C	TOPMed
SEC16A	O15027	p.Arg1310Gly	rs1303843378	missense variant	-	NC_000009.12:g.136466958T>C	TOPMed
SEC16A	O15027	p.Pro1311Ser	rs1485346117	missense variant	-	NC_000009.12:g.136466461G>A	gnomAD
SEC16A	O15027	p.Glu1312Lys	rs200813257	missense variant	-	NC_000009.12:g.136466458C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1314Leu	rs755766327	missense variant	-	NC_000009.12:g.136466451C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1314Gly	rs370445138	missense variant	-	NC_000009.12:g.136466452G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1314Cys	rs370445138	missense variant	-	NC_000009.12:g.136466452G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1314Pro	rs755766327	missense variant	-	NC_000009.12:g.136466451C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1314His	rs755766327	missense variant	-	NC_000009.12:g.136466451C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn1316Ser	rs1276469484	missense variant	-	NC_000009.12:g.136466445T>C	gnomAD
SEC16A	O15027	p.Asn1317Ser	rs769874962	missense variant	-	NC_000009.12:g.136466442T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Trp1318Leu	rs1343790683	missense variant	-	NC_000009.12:g.136466439C>A	TOPMed
SEC16A	O15027	p.Trp1318Cys	rs1306969898	missense variant	-	NC_000009.12:g.136466438C>G	gnomAD
SEC16A	O15027	p.Asp1321Asn	rs764422846	missense variant	-	NC_000009.12:g.136466431C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1321His	rs764422846	missense variant	-	NC_000009.12:g.136466431C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1322Ser	rs1171746590	missense variant	-	NC_000009.12:g.136466428G>A	gnomAD
SEC16A	O15027	p.Arg1323His	rs775650449	missense variant	-	NC_000009.12:g.136466424C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1323Cys	rs763369898	missense variant	-	NC_000009.12:g.136466425G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr1325Ala	rs765466537	missense variant	-	NC_000009.12:g.136466419T>C	ExAC,gnomAD
SEC16A	O15027	p.Thr1325Met	rs759715457	missense variant	-	NC_000009.12:g.136466418G>A	ExAC,gnomAD
SEC16A	O15027	p.Ser1327Gly	rs770978746	missense variant	-	NC_000009.12:g.136466413T>C	ExAC,gnomAD
SEC16A	O15027	p.Asp1330Asn	rs188730587	missense variant	-	NC_000009.12:g.136466404C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1330Tyr	rs188730587	missense variant	-	NC_000009.12:g.136466404C>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1332Leu	rs1174057852	missense variant	-	NC_000009.12:g.136466397G>A	TOPMed
SEC16A	O15027	p.Asp1333Asn	rs779662133	missense variant	-	NC_000009.12:g.136466395C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1333Glu	rs755859057	missense variant	-	NC_000009.12:g.136466393A>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1333His	rs779662133	missense variant	-	NC_000009.12:g.136466395C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1334Ala	rs565142453	missense variant	-	NC_000009.12:g.136466392G>C	1000Genomes
SEC16A	O15027	p.Pro1334Leu	rs375311104	missense variant	-	NC_000009.12:g.136466391G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His1335Pro	rs540499468	missense variant	-	NC_000009.12:g.136466388T>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1338Leu	rs947192655	missense variant	-	NC_000009.12:g.136466379G>A	TOPMed,gnomAD
SEC16A	O15027	p.Tyr1339Cys	rs960962720	missense variant	-	NC_000009.12:g.136466376T>C	TOPMed,gnomAD
SEC16A	O15027	p.Glu1342Lys	rs1397470481	missense variant	-	NC_000009.12:g.136466368C>T	gnomAD
SEC16A	O15027	p.Arg1345Gln	rs377554237	missense variant	-	NC_000009.12:g.136466358C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1345Trp	rs753137789	missense variant	-	NC_000009.12:g.136466359G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1346Cys	rs759805334	missense variant	-	NC_000009.12:g.136466356G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1346His	rs368912937	missense variant	-	NC_000009.12:g.136466355C>T	ESP,TOPMed,gnomAD
SEC16A	O15027	p.Val1348Ile	rs766515410	missense variant	-	NC_000009.12:g.136466350C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1351Gln	rs951213768	missense variant	-	NC_000009.12:g.136466341C>G	TOPMed,gnomAD
SEC16A	O15027	p.Ser1353Ala	rs1324386654	missense variant	-	NC_000009.12:g.136466335A>C	gnomAD
SEC16A	O15027	p.Ser1353Leu	rs374231100	missense variant	-	NC_000009.12:g.136466334G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1355Gln	rs1446654683	missense variant	-	NC_000009.12:g.136466328C>T	gnomAD
SEC16A	O15027	p.Arg1355Trp	rs199798606	missense variant	-	NC_000009.12:g.136466329G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1356Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136466325C>A	NCI-TCGA
SEC16A	O15027	p.Leu1357Pro	rs1338108593	missense variant	-	NC_000009.12:g.136466322A>G	gnomAD
SEC16A	O15027	p.Leu1357Met	rs1050199551	missense variant	-	NC_000009.12:g.136466323G>T	TOPMed,gnomAD
SEC16A	O15027	p.His1358Arg	rs1400883302	missense variant	-	NC_000009.12:g.136466319T>C	gnomAD
SEC16A	O15027	p.Ala1360Val	rs1402794027	missense variant	-	NC_000009.12:g.136466313G>A	TOPMed
SEC16A	O15027	p.Ala1360AspPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136466313G>-	NCI-TCGA
SEC16A	O15027	p.Ala1360Thr	rs775462972	missense variant	-	NC_000009.12:g.136466314C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His1361Gln	rs1271685843	missense variant	-	NC_000009.12:g.136466309G>C	TOPMed,gnomAD
SEC16A	O15027	p.His1361Asn	rs1340690750	missense variant	-	NC_000009.12:g.136466311G>T	TOPMed
SEC16A	O15027	p.Leu1363Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136466304A>G	NCI-TCGA
SEC16A	O15027	p.Ala1364Thr	rs1437745362	missense variant	-	NC_000009.12:g.136466302C>T	gnomAD
SEC16A	O15027	p.Arg1366Cys	rs1387074806	missense variant	-	NC_000009.12:g.136466296G>A	gnomAD
SEC16A	O15027	p.Arg1366His	rs1024033674	missense variant	-	NC_000009.12:g.136466295C>T	TOPMed,gnomAD
SEC16A	O15027	p.Arg1367Cys	rs555976083	missense variant	-	NC_000009.12:g.136466293G>A	1000Genomes,TOPMed,gnomAD
SEC16A	O15027	p.Arg1367His	rs537949436	missense variant	-	NC_000009.12:g.136466292C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1367Pro	rs537949436	missense variant	-	NC_000009.12:g.136466292C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1368Arg	rs780986397	missense variant	-	NC_000009.12:g.136466288G>C	ExAC,gnomAD
SEC16A	O15027	p.Ser1369Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136466286C>T	NCI-TCGA
SEC16A	O15027	p.Ser1371Gly	rs1220276258	missense variant	-	NC_000009.12:g.136466281T>C	TOPMed
SEC16A	O15027	p.Ser1372Pro	rs770640981	missense variant	-	NC_000009.12:g.136466278A>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1372Phe	rs1488718023	missense variant	-	NC_000009.12:g.136466277G>A	TOPMed
SEC16A	O15027	p.His1373Arg	rs914088060	missense variant	-	NC_000009.12:g.136466274T>C	TOPMed
SEC16A	O15027	p.Ser1374Leu	rs763169052	missense variant	-	NC_000009.12:g.136466271G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His1375Gln	rs116048441	missense variant	-	NC_000009.12:g.136466267G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His1375Asn	rs1317702405	missense variant	-	NC_000009.12:g.136466269G>T	gnomAD
SEC16A	O15027	p.Ser1377Arg	rs1451524614	missense variant	-	NC_000009.12:g.136466134A>C	TOPMed,gnomAD
SEC16A	O15027	p.Gln1378Glu	rs1306370751	missense variant	-	NC_000009.12:g.136466133G>C	TOPMed,gnomAD
SEC16A	O15027	p.Gln1378Pro	rs766065503	missense variant	-	NC_000009.12:g.136466132T>G	ExAC,gnomAD
SEC16A	O15027	p.Ile1379Met	rs1198110667	missense variant	-	NC_000009.12:g.136466128A>C	gnomAD
SEC16A	O15027	p.Arg1381Gly	rs1262252155	missense variant	-	NC_000009.12:g.136466124T>C	TOPMed
SEC16A	O15027	p.His1383Tyr	rs760431602	missense variant	-	NC_000009.12:g.136466118G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His1383Arg	rs772734028	missense variant	-	NC_000009.12:g.136466117T>C	ExAC
SEC16A	O15027	p.Asn1384Ser	rs1238640161	missense variant	-	NC_000009.12:g.136466114T>C	TOPMed
SEC16A	O15027	p.Asn1384Asp	rs771685309	missense variant	-	NC_000009.12:g.136466115T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1385Leu	rs747667668	missense variant	-	NC_000009.12:g.136466112C>A	ExAC,gnomAD
SEC16A	O15027	p.Val1385Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136466111A>G	NCI-TCGA
SEC16A	O15027	p.Ala1387Val	rs778255040	missense variant	-	NC_000009.12:g.136466105G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala1387Gly	rs778255040	missense variant	-	NC_000009.12:g.136466105G>C	ExAC,gnomAD
SEC16A	O15027	p.Ala1387Ser	COSM6115382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136466106C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gly1388Ser	rs769945456	missense variant	-	NC_000009.12:g.136466103C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1389Phe	rs756423341	missense variant	-	NC_000009.12:g.136466099G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1390Ter	COSM487226	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136466095G>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Glu1391Lys	rs781277506	missense variant	-	NC_000009.12:g.136466094C>T	ExAC,gnomAD
SEC16A	O15027	p.Glu1391Asp	rs1170117336	missense variant	-	NC_000009.12:g.136466092C>G	gnomAD
SEC16A	O15027	p.Glu1391Gln	rs781277506	missense variant	-	NC_000009.12:g.136466094C>G	ExAC,gnomAD
SEC16A	O15027	p.Ala1392Val	rs757444103	missense variant	-	NC_000009.12:g.136466090G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1393Leu	rs960694744	missense variant	-	NC_000009.12:g.136466087G>A	TOPMed,gnomAD
SEC16A	O15027	p.Leu1394Phe	rs565105003	missense variant	-	NC_000009.12:g.136466085G>A	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Leu1394Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136466084A>G	NCI-TCGA
SEC16A	O15027	p.Pro1395Leu	rs755014230	missense variant	-	NC_000009.12:g.136466081G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1397Asp	rs753812461	missense variant	-	NC_000009.12:g.136466075C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser1398Ala	rs1196270981	missense variant	-	NC_000009.12:g.136466073A>C	gnomAD
SEC16A	O15027	p.His1400Asp	rs540412966	missense variant	-	NC_000009.12:g.136466067G>C	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.His1400Tyr	COSM753169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136466067G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gly1401Cys	rs528690627	missense variant	-	NC_000009.12:g.136466064C>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1401Ser	rs528690627	missense variant	-	NC_000009.12:g.136466064C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1402Asn	rs1281123751	missense variant	-	NC_000009.12:g.136466061C>T	gnomAD
SEC16A	O15027	p.Asp1402Gly	rs761411387	missense variant	-	NC_000009.12:g.136466060T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1406Ser	rs768136595	missense variant	-	NC_000009.12:g.136466049C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1406Asp	rs1444583609	missense variant	-	NC_000009.12:g.136466048C>T	gnomAD
SEC16A	O15027	p.Thr1407Ser	rs749855021	missense variant	-	NC_000009.12:g.136466045G>C	ExAC,gnomAD
SEC16A	O15027	p.Thr1407Ala	rs182442427	missense variant	-	NC_000009.12:g.136466046T>C	1000Genomes
SEC16A	O15027	p.Arg1409Cys	rs753561737	missense variant	-	NC_000009.12:g.136466040G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1409His	rs770270784	missense variant	-	NC_000009.12:g.136466039C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1410Arg	rs1160718711	missense variant	-	NC_000009.12:g.136466035G>T	gnomAD
SEC16A	O15027	p.Ser1410Gly	rs1423462936	missense variant	-	NC_000009.12:g.136466037T>C	TOPMed,gnomAD
SEC16A	O15027	p.Ser1413Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136466027C>T	NCI-TCGA
SEC16A	O15027	p.Gly1415Ser	rs200783599	missense variant	-	NC_000009.12:g.136466022C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1415Asp	rs781571637	missense variant	-	NC_000009.12:g.136466021C>T	ExAC
SEC16A	O15027	p.Pro1416Leu	rs561420041	missense variant	-	NC_000009.12:g.136466018G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1416Ser	rs757584654	missense variant	-	NC_000009.12:g.136466019G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1416His	rs561420041	missense variant	-	NC_000009.12:g.136466018G>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1417Ser	rs369869654	missense variant	-	NC_000009.12:g.136466016C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1420Lys	rs1173216684	missense variant	-	NC_000009.12:g.136466007C>T	TOPMed
SEC16A	O15027	p.Tyr1421Asn	rs752753683	missense variant	-	NC_000009.12:g.136466004A>T	ExAC,gnomAD
SEC16A	O15027	p.Tyr1423Ter	rs199501843	stop gained	-	NC_000009.12:g.136465996G>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1423Ser	rs779866811	missense variant	-	NC_000009.12:g.136465997T>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1424Leu	rs556126586	missense variant	-	NC_000009.12:g.136465994G>A	1000Genomes,TOPMed
SEC16A	O15027	p.Pro1424Ser	rs574310451	missense variant	-	NC_000009.12:g.136465995G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1426Asn	rs201779703	missense variant	-	NC_000009.12:g.136465989C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1426Tyr	rs201779703	missense variant	-	NC_000009.12:g.136465989C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1428Ile	rs762456981	missense variant	-	NC_000009.12:g.136465983C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Trp1429Ser	rs1401648761	missense variant	-	NC_000009.12:g.136465979C>G	TOPMed
SEC16A	O15027	p.Pro1430Leu	rs1480095086	missense variant	-	NC_000009.12:g.136465976G>A	gnomAD
SEC16A	O15027	p.Pro1430Ser	rs775007817	missense variant	-	NC_000009.12:g.136465977G>A	ExAC,gnomAD
SEC16A	O15027	p.Met1432Val	rs760049021	missense variant	-	NC_000009.12:g.136465971T>C	ExAC,gnomAD
SEC16A	O15027	p.Met1432Thr	rs776909079	missense variant	-	NC_000009.12:g.136465970A>G	ExAC,gnomAD
SEC16A	O15027	p.Met1432Ile	rs771407781	missense variant	-	NC_000009.12:g.136465969C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1433Lys	rs372134260	missense variant	-	NC_000009.12:g.136465968C>T	ESP,ExAC,gnomAD
SEC16A	O15027	p.Ser1436Leu	rs370552253	missense variant	-	NC_000009.12:g.136464559G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1438Ile	COSM1106811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136464553C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Thr1440Ala	rs764773070	missense variant	-	NC_000009.12:g.136464548T>C	ExAC,gnomAD
SEC16A	O15027	p.Ser1441Phe	COSM1314629	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136464544G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Phe1445Ile	COSM3905712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136464533A>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Ser1446Leu	rs1292321298	missense variant	-	NC_000009.12:g.136464529G>A	TOPMed
SEC16A	O15027	p.Val1447Glu	rs1387528189	missense variant	-	NC_000009.12:g.136464526A>T	TOPMed
SEC16A	O15027	p.Pro1448Ser	rs760019478	missense variant	-	NC_000009.12:g.136464524G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1448Leu	rs1264715440	missense variant	-	NC_000009.12:g.136464523G>A	TOPMed,gnomAD
SEC16A	O15027	p.His1449Gln	rs368514201	missense variant	-	NC_000009.12:g.136464519A>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His1449Tyr	COSM1187852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136464521G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.His1449Pro	rs1320386385	missense variant	-	NC_000009.12:g.136464520T>G	TOPMed
SEC16A	O15027	p.Val1450Ile	rs1319948603	missense variant	-	NC_000009.12:g.136464518C>T	TOPMed,gnomAD
SEC16A	O15027	p.Ala1452Val	rs761133373	missense variant	-	NC_000009.12:g.136464511G>A	ExAC
SEC16A	O15027	p.Arg1453Met	rs1219449388	missense variant	-	NC_000009.12:g.136464508C>A	gnomAD
SEC16A	O15027	p.Arg1453Trp	rs1260127521	missense variant	-	NC_000009.12:g.136464509T>A	gnomAD
SEC16A	O15027	p.Gly1455Arg	rs913607742	missense variant	-	NC_000009.12:g.136464503C>G	gnomAD
SEC16A	O15027	p.Gly1455Cys	rs913607742	missense variant	-	NC_000009.12:g.136464503C>A	gnomAD
SEC16A	O15027	p.Pro1456Arg	rs773659876	missense variant	-	NC_000009.12:g.136464499G>C	ExAC,gnomAD
SEC16A	O15027	p.Gly1458Ser	rs778904624	missense variant	-	NC_000009.12:g.136464494C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1459His	rs768771675	missense variant	-	NC_000009.12:g.136464489C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1460Phe	rs1351043313	missense variant	-	NC_000009.12:g.136464488G>A	TOPMed
SEC16A	O15027	p.Ile1461Val	rs760626765	missense variant	-	NC_000009.12:g.136464485T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ile1461Thr	rs1464767541	missense variant	-	NC_000009.12:g.136464484A>G	gnomAD
SEC16A	O15027	p.Lys1462Glu	rs1420947572	missense variant	-	NC_000009.12:g.136464482T>C	gnomAD
SEC16A	O15027	p.Asn1466Ser	rs534772431	missense variant	-	NC_000009.12:g.136464469T>C	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Leu1467Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136464467G>C	NCI-TCGA
SEC16A	O15027	p.Val1476Ala	rs1462358682	missense variant	-	NC_000009.12:g.136464439A>G	TOPMed
SEC16A	O15027	p.Val1476Met	rs1481601000	missense variant	-	NC_000009.12:g.136464440C>T	gnomAD
SEC16A	O15027	p.Met1481Ile	rs1317392493	missense variant	-	NC_000009.12:g.136464423C>T	gnomAD
SEC16A	O15027	p.Glu1482Ter	COSM6183170	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136464422C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ala1483Val	rs774523830	missense variant	-	NC_000009.12:g.136463739G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.His1487Tyr	rs764401969	missense variant	-	NC_000009.12:g.136463728G>A	ExAC,gnomAD
SEC16A	O15027	p.Thr1488Met	rs763048548	missense variant	-	NC_000009.12:g.136463724G>A	ExAC,gnomAD
SEC16A	O15027	p.Met1494Thr	rs775588060	missense variant	-	NC_000009.12:g.136463706A>G	ExAC,gnomAD
SEC16A	O15027	p.Arg1495Trp	rs1424485733	missense variant	-	NC_000009.12:g.136463704G>A	TOPMed,gnomAD
SEC16A	O15027	p.Arg1495Gln	rs377240654	missense variant	-	NC_000009.12:g.136463703C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1496Val	rs541005290	missense variant	-	NC_000009.12:g.136463700G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Phe1497Ser	COSM1106809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136463697A>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Pro1498Leu	rs1287246322	missense variant	-	NC_000009.12:g.136463694G>A	gnomAD
SEC16A	O15027	p.Gly1499Glu	rs747996203	missense variant	-	NC_000009.12:g.136463691C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1502Val	rs372600578	missense variant	-	NC_000009.12:g.136463682G>A	ESP,TOPMed,gnomAD
SEC16A	O15027	p.Ala1502Ser	rs778530277	missense variant	-	NC_000009.12:g.136463683C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys1503Glu	rs1026678055	missense variant	-	NC_000009.12:g.136463680T>C	TOPMed
SEC16A	O15027	p.Asp1505Gly	rs1340164708	missense variant	-	NC_000009.12:g.136463596T>C	TOPMed
SEC16A	O15027	p.Asp1505Asn	rs763211212	missense variant	-	NC_000009.12:g.136463597C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr1506Ala	rs765375075	missense variant	-	NC_000009.12:g.136463594T>C	ExAC,gnomAD
SEC16A	O15027	p.Val1511Ala	rs1039011490	missense variant	-	NC_000009.12:g.136463578A>G	TOPMed
SEC16A	O15027	p.Ala1515Ser	rs1265970534	missense variant	-	NC_000009.12:g.136463567C>A	TOPMed
SEC16A	O15027	p.Gln1516Ter	rs1332641248	stop gained	-	NC_000009.12:g.136463564G>A	gnomAD
SEC16A	O15027	p.Gln1516His	COSM5153324	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136463562C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gln1516His	rs776522300	missense variant	-	NC_000009.12:g.136463562C>G	ExAC,gnomAD
SEC16A	O15027	p.Asn1517Ser	rs772075776	missense variant	-	NC_000009.12:g.136463560T>C	ExAC,gnomAD
SEC16A	O15027	p.Lys1518Glu	rs761621566	missense variant	-	NC_000009.12:g.136463558T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys1518Arg	rs561936629	missense variant	-	NC_000009.12:g.136463557T>C	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Met1520Val	rs200331918	missense variant	-	NC_000009.12:g.136463552T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys1521Gln	rs1424534611	missense variant	-	NC_000009.12:g.136463549T>G	gnomAD
SEC16A	O15027	p.Asn1525Ser	rs1474610595	missense variant	-	NC_000009.12:g.136463536T>C	gnomAD
SEC16A	O15027	p.Leu1528Ser	rs779861496	missense variant	-	NC_000009.12:g.136463527A>G	ExAC,gnomAD
SEC16A	O15027	p.Ile1529Val	rs769518274	missense variant	-	NC_000009.12:g.136463525T>C	ExAC,gnomAD
SEC16A	O15027	p.Asp1530Ala	rs745395482	missense variant	-	NC_000009.12:g.136463521T>G	ExAC,gnomAD
SEC16A	O15027	p.Lys1531Asn	rs780531108	missense variant	-	NC_000009.12:g.136463517T>G	ExAC,gnomAD
SEC16A	O15027	p.Lys1531Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136463518T>G	NCI-TCGA
SEC16A	O15027	p.Glu1532Ala	rs1200047751	missense variant	-	NC_000009.12:g.136463515T>G	gnomAD
SEC16A	O15027	p.Ser1533Phe	rs1245610928	missense variant	-	NC_000009.12:g.136463512G>A	TOPMed
SEC16A	O15027	p.Ala1534Val	rs751988588	missense variant	-	NC_000009.12:g.136463509G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala1534Thr	rs757824620	missense variant	-	NC_000009.12:g.136463510C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1537Phe	rs778259207	missense variant	-	NC_000009.12:g.136463501G>A	ExAC,gnomAD
SEC16A	O15027	p.Asn1539Thr	rs377035577	missense variant	-	NC_000009.12:g.136463494T>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn1539Ser	rs377035577	missense variant	-	NC_000009.12:g.136463494T>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Phe1540Leu	rs753001512	missense variant	-	NC_000009.12:g.136463490A>C	ExAC,gnomAD
SEC16A	O15027	p.Ile1541Phe	rs1457892996	missense variant	-	NC_000009.12:g.136463489T>A	TOPMed
SEC16A	O15027	p.Cys1545Tyr	rs1054453975	missense variant	-	NC_000009.12:g.136463476C>T	TOPMed
SEC16A	O15027	p.Arg1546Gly	COSM4844384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136463474T>C	NCI-TCGA Cosmic
SEC16A	O15027	p.Asn1548His	rs1457922771	missense variant	-	NC_000009.12:g.136463468T>G	TOPMed
SEC16A	O15027	p.Val1551Met	rs376298967	missense variant	-	NC_000009.12:g.136463129C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1555Asn	rs750463398	missense variant	-	NC_000009.12:g.136463117C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1557Val	rs764153972	missense variant	-	NC_000009.12:g.136463110G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1558Lys	rs1447633192	missense variant	-	NC_000009.12:g.136463108C>T	gnomAD
SEC16A	O15027	p.Leu1560Met	COSM455600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136463102G>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Arg1562Gln	rs775469122	missense variant	-	NC_000009.12:g.136463095C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1563Ala	rs765104349	missense variant	-	NC_000009.12:g.136463092T>G	ExAC,gnomAD
SEC16A	O15027	p.Asp1563Asn	rs1300506590	missense variant	-	NC_000009.12:g.136463093C>T	gnomAD
SEC16A	O15027	p.His1564Arg	rs1360382705	missense variant	-	NC_000009.12:g.136463089T>C	gnomAD
SEC16A	O15027	p.Arg1565Ile	rs1157559587	missense variant	-	NC_000009.12:g.136463086C>A	gnomAD
SEC16A	O15027	p.Thr1566Ile	rs562052222	missense variant	-	NC_000009.12:g.136463083G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1567Ala	rs770558819	missense variant	-	NC_000009.12:g.136463080A>G	ExAC,gnomAD
SEC16A	O15027	p.Val1567Met	rs776143377	missense variant	-	NC_000009.12:g.136463081C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Trp1568Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136463076C>A	NCI-TCGA
SEC16A	O15027	p.Gly1571Ala	rs1474044409	missense variant	-	NC_000009.12:g.136463068C>G	gnomAD
SEC16A	O15027	p.Lys1572Asn	rs746523348	missense variant	-	NC_000009.12:g.136463064C>A	ExAC,gnomAD
SEC16A	O15027	p.Lys1572Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.136463066T>A	NCI-TCGA
SEC16A	O15027	p.Ser1573Leu	rs371265892	missense variant	-	NC_000009.12:g.136463062G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1574Ser	rs1240219491	missense variant	-	NC_000009.12:g.136463060G>A	gnomAD
SEC16A	O15027	p.Asn1575Ser	rs367743154	missense variant	-	NC_000009.12:g.136463056T>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1577Gly	rs749597968	missense variant	-	NC_000009.12:g.136463050G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1577Val	rs749597968	missense variant	-	NC_000009.12:g.136463050G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1577Thr	rs779303361	missense variant	-	NC_000009.12:g.136463051C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ile1580Ser	rs886374537	missense variant	-	NC_000009.12:g.136463041A>C	gnomAD
SEC16A	O15027	p.Thr1583Met	rs1048994632	missense variant	-	NC_000009.12:g.136463032G>A	TOPMed,gnomAD
SEC16A	O15027	p.Glu1585Asp	rs1017505490	missense variant	-	NC_000009.12:g.136463025C>A	TOPMed
SEC16A	O15027	p.Val1587Gly	rs750504277	missense variant	-	NC_000009.12:g.136463020A>C	ExAC,gnomAD
SEC16A	O15027	p.Val1590Met	rs1349924755	missense variant	-	NC_000009.12:g.136463012C>T	gnomAD
SEC16A	O15027	p.Glu1593Asp	rs752668821	missense variant	-	NC_000009.12:g.136463001C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1593Gln	rs576555567	missense variant	-	NC_000009.12:g.136463003C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1594Lys	rs765192503	missense variant	-	NC_000009.12:g.136463000C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly1596Arg	rs765977142	missense variant	-	NC_000009.12:g.136462994C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1596Cys	rs765977142	missense variant	-	NC_000009.12:g.136462994C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1597Lys	COSM1489810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136462991C>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Ala1598Thr	rs1488802652	missense variant	-	NC_000009.12:g.136462988C>T	gnomAD
SEC16A	O15027	p.Ser1601Cys	rs1032979317	missense variant	-	NC_000009.12:g.136462978G>C	TOPMed,gnomAD
SEC16A	O15027	p.Thr1604Ala	rs1467196870	missense variant	-	NC_000009.12:g.136462970T>C	gnomAD
SEC16A	O15027	p.Gly1605Asp	rs1210753637	missense variant	-	NC_000009.12:g.136462966C>T	TOPMed
SEC16A	O15027	p.Gly1606Ser	rs772756459	missense variant	-	NC_000009.12:g.136462964C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1606Asp	rs1293930545	missense variant	-	NC_000009.12:g.136462963C>T	gnomAD
SEC16A	O15027	p.Pro1607Leu	rs201789231	missense variant	-	NC_000009.12:g.136462960G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1607Gln	rs201789231	missense variant	-	NC_000009.12:g.136462960G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1608Val	rs749640077	missense variant	-	NC_000009.12:g.136462957G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1608Thr	rs769145573	missense variant	-	NC_000009.12:g.136462958C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala1610Ser	rs12375759	missense variant	-	NC_000009.12:g.136462952C>A	ESP,TOPMed,gnomAD
SEC16A	O15027	p.Ala1610Pro	rs12375759	missense variant	-	NC_000009.12:g.136462952C>G	ESP,TOPMed,gnomAD
SEC16A	O15027	p.Ala1610Thr	rs12375759	missense variant	-	NC_000009.12:g.136462952C>T	ESP,TOPMed,gnomAD
SEC16A	O15027	p.Ala1611Thr	rs746069224	missense variant	-	NC_000009.12:g.136462949C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser1612Asn	rs781480951	missense variant	-	NC_000009.12:g.136462945C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser1613Leu	rs554095424	missense variant	-	NC_000009.12:g.136462942G>A	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Leu1614Ile	rs575014700	missense variant	-	NC_000009.12:g.136462940G>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Leu1614Arg	rs556844298	missense variant	-	NC_000009.12:g.136462939A>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1615Ala	rs767087664	missense variant	-	NC_000009.12:g.136462936T>G	ExAC,gnomAD
SEC16A	O15027	p.Glu1615Asp	rs373379592	missense variant	-	NC_000009.12:g.136462935C>A	ESP,ExAC,gnomAD
SEC16A	O15027	p.Glu1615Lys	rs376350415	missense variant	-	NC_000009.12:g.136462937C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1616Thr	rs763490212	missense variant	-	NC_000009.12:g.136462933C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1617Asp	COSM3905702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136462929C>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Glu1619Gln	rs373377796	missense variant	-	NC_000009.12:g.136462925C>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1619Lys	rs373377796	missense variant	-	NC_000009.12:g.136462925C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1620Met	rs746159821	missense variant	-	NC_000009.12:g.136462921C>A	ExAC,gnomAD
SEC16A	O15027	p.Phe1621Cys	rs1268518537	missense variant	-	NC_000009.12:g.136462918A>C	TOPMed,gnomAD
SEC16A	O15027	p.Phe1621Leu	rs1390444226	missense variant	-	NC_000009.12:g.136462917G>C	gnomAD
SEC16A	O15027	p.Arg1622Lys	rs1393799437	missense variant	-	NC_000009.12:g.136462915C>T	gnomAD
SEC16A	O15027	p.Glu1623Val	rs369871988	missense variant	-	NC_000009.12:g.136462912T>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1623Lys	rs1350194375	missense variant	-	NC_000009.12:g.136462913C>T	TOPMed
SEC16A	O15027	p.Leu1624Met	rs1466324650	missense variant	-	NC_000009.12:g.136462910G>T	gnomAD
SEC16A	O15027	p.Arg1629Gly	rs747114907	missense variant	-	NC_000009.12:g.136462895G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1629His	rs377307500	missense variant	-	NC_000009.12:g.136462894C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1629Cys	rs747114907	missense variant	-	NC_000009.12:g.136462895G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1632Asn	rs1382871476	missense variant	-	NC_000009.12:g.136461274C>T	TOPMed,gnomAD
SEC16A	O15027	p.Asp1632Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136461274C>A	NCI-TCGA
SEC16A	O15027	p.Glu1635Gln	rs1470034586	missense variant	-	NC_000009.12:g.136461265C>G	TOPMed
SEC16A	O15027	p.Glu1635Asp	rs1295420534	missense variant	-	NC_000009.12:g.136461263C>A	gnomAD
SEC16A	O15027	p.Ser1636Phe	rs757930985	missense variant	-	NC_000009.12:g.136461261G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala1637Thr	rs752092696	missense variant	-	NC_000009.12:g.136461259C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Met1638Ile	rs375153751	missense variant	-	NC_000009.12:g.136461254C>T	ESP,gnomAD
SEC16A	O15027	p.Met1638Val	rs765797378	missense variant	-	NC_000009.12:g.136461256T>C	ExAC,gnomAD
SEC16A	O15027	p.His1645Tyr	rs766836812	missense variant	-	NC_000009.12:g.136461235G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala1646Thr	rs1209856165	missense variant	-	NC_000009.12:g.136461232C>T	gnomAD
SEC16A	O15027	p.Ala1646Pro	rs1209856165	missense variant	-	NC_000009.12:g.136461232C>G	gnomAD
SEC16A	O15027	p.Leu1648Pro	rs1270844278	missense variant	-	NC_000009.12:g.136461225A>G	gnomAD
SEC16A	O15027	p.Ala1650Gly	rs1427698943	missense variant	-	NC_000009.12:g.136461219G>C	TOPMed
SEC16A	O15027	p.Ala1650Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136461220C>T	NCI-TCGA
SEC16A	O15027	p.Ser1651Arg	rs1269445216	missense variant	-	NC_000009.12:g.136461215A>T	gnomAD
SEC16A	O15027	p.Ser1651Asn	rs772123976	missense variant	-	NC_000009.12:g.136461216C>T	ExAC,gnomAD
SEC16A	O15027	p.Arg1656Trp	rs763425163	missense variant	-	NC_000009.12:g.136461202G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1656Gln	rs769766754	missense variant	-	NC_000009.12:g.136461201C>T	ExAC,gnomAD
SEC16A	O15027	p.Arg1656Pro	rs769766754	missense variant	-	NC_000009.12:g.136461201C>G	ExAC,gnomAD
SEC16A	O15027	p.Thr1657Ser	rs1324578908	missense variant	-	NC_000009.12:g.136461199T>A	TOPMed
SEC16A	O15027	p.His1658Tyr	rs1393862467	missense variant	-	NC_000009.12:g.136461196G>A	gnomAD
SEC16A	O15027	p.His1658Gln	rs375805476	missense variant	-	NC_000009.12:g.136461194G>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1659Ser	rs757046307	missense variant	-	NC_000009.12:g.136461193C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1659Thr	rs757046307	missense variant	-	NC_000009.12:g.136461193C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1659Val	rs371441025	missense variant	-	NC_000009.12:g.136461192G>A	ESP,TOPMed
SEC16A	O15027	p.Arg1660Gln	rs746715830	missense variant	-	NC_000009.12:g.136461189C>T	ExAC,gnomAD
SEC16A	O15027	p.Arg1660Ter	rs1167758719	stop gained	-	NC_000009.12:g.136461190G>A	gnomAD
SEC16A	O15027	p.Val1661Leu	rs368623842	missense variant	-	NC_000009.12:g.136461187C>G	ESP,ExAC,gnomAD
SEC16A	O15027	p.Phe1665Tyr	rs1440360654	missense variant	-	NC_000009.12:g.136460121A>T	gnomAD
SEC16A	O15027	p.Asn1667Asp	rs538682216	missense variant	-	NC_000009.12:g.136460116T>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1669Phe	rs374828890	missense variant	-	NC_000009.12:g.136460110G>A	ESP,TOPMed
SEC16A	O15027	p.Pro1670Leu	rs571693482	missense variant	-	NC_000009.12:g.136460106G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1670Ser	rs1237641519	missense variant	-	NC_000009.12:g.136460107G>A	TOPMed
SEC16A	O15027	p.Ile1671Val	rs1161002835	missense variant	-	NC_000009.12:g.136460104T>C	gnomAD
SEC16A	O15027	p.Gln1676Arg	rs1186889674	missense variant	-	NC_000009.12:g.136460088T>C	gnomAD
SEC16A	O15027	p.Val1678Ile	rs762156089	missense variant	-	NC_000009.12:g.136460083C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1679His	rs1216443035	missense variant	-	NC_000009.12:g.136460080A>G	gnomAD
SEC16A	O15027	p.Gln1680Arg	rs1447637457	missense variant	-	NC_000009.12:g.136460076T>C	gnomAD
SEC16A	O15027	p.Leu1681Phe	rs945638001	missense variant	-	NC_000009.12:g.136460074G>A	gnomAD
SEC16A	O15027	p.Met1682Thr	rs1408696723	missense variant	-	NC_000009.12:g.136460070A>G	gnomAD
SEC16A	O15027	p.Met1682Ile	rs1358662371	missense variant	-	NC_000009.12:g.136460069C>T	gnomAD
SEC16A	O15027	p.Ser1683Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136460067G>A	NCI-TCGA
SEC16A	O15027	p.Gly1684Arg	rs201051805	missense variant	-	NC_000009.12:g.136460065C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1684Ter	rs201051805	stop gained	-	NC_000009.12:g.136460065C>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1685Leu	rs775500259	missense variant	-	NC_000009.12:g.136460061C>A	ExAC,gnomAD
SEC16A	O15027	p.Arg1685Trp	rs763034804	missense variant	-	NC_000009.12:g.136460062G>A	ExAC,gnomAD
SEC16A	O15027	p.Arg1685Gln	rs775500259	missense variant	-	NC_000009.12:g.136460061C>T	ExAC,gnomAD
SEC16A	O15027	p.Met1686Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136460059T>C	NCI-TCGA
SEC16A	O15027	p.Ala1689Thr	rs773116220	missense variant	-	NC_000009.12:g.136460050C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1689Ser	rs773116220	missense variant	-	NC_000009.12:g.136460050C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1689Val	rs113207461	missense variant	-	NC_000009.12:g.136460049G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1690Pro	rs778717556	missense variant	-	NC_000009.12:g.136460047A>G	ExAC,gnomAD
SEC16A	O15027	p.Ser1690Cys	rs768370491	missense variant	-	NC_000009.12:g.136460046G>C	ExAC,gnomAD
SEC16A	O15027	p.Thr1691Met	rs372815679	missense variant	-	NC_000009.12:g.136460043G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Cys1693Tyr	rs748923915	missense variant	-	NC_000009.12:g.136459870C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Cys1693Phe	rs748923915	missense variant	-	NC_000009.12:g.136459870C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1694Arg	rs1371056934	missense variant	-	NC_000009.12:g.136459868C>T	gnomAD
SEC16A	O15027	p.Asp1695Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136459865C>A	NCI-TCGA
SEC16A	O15027	p.Asp1695Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136459865C>T	NCI-TCGA
SEC16A	O15027	p.Glu1696Lys	rs368769267	missense variant	-	NC_000009.12:g.136459862C>T	ESP,TOPMed,gnomAD
SEC16A	O15027	p.Gly1699Arg	rs745321461	missense variant	-	NC_000009.12:g.136459853C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly1699Glu	rs781568267	missense variant	-	NC_000009.12:g.136459852C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Trp1701Arg	rs757734695	missense variant	-	NC_000009.12:g.136459847A>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1703Leu	rs899558322	missense variant	-	NC_000009.12:g.136459840G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro1703Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136459840G>T	NCI-TCGA
SEC16A	O15027	p.Ala1706Thr	rs758670936	missense variant	-	NC_000009.12:g.136459832C>T	ExAC,gnomAD
SEC16A	O15027	p.Met1707Val	rs752909623	missense variant	-	NC_000009.12:g.136459829T>C	ExAC,gnomAD
SEC16A	O15027	p.Leu1709Val	rs1400458418	missense variant	-	NC_000009.12:g.136459823A>C	TOPMed
SEC16A	O15027	p.Asn1711Ser	rs765432468	missense variant	-	NC_000009.12:g.136459816T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn1715Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136459804T>A	NCI-TCGA
SEC16A	O15027	p.Met1716Val	rs755026021	missense variant	-	NC_000009.12:g.136459802T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1717Asn	rs202232995	missense variant	-	NC_000009.12:g.136459799C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1717His	rs202232995	missense variant	-	NC_000009.12:g.136459799C>G	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1718Ile	rs774334239	missense variant	-	NC_000009.12:g.136459796C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1719Lys	rs1209773614	missense variant	-	NC_000009.12:g.136459793C>T	TOPMed
SEC16A	O15027	p.Thr1722Met	rs367852678	missense variant	-	NC_000009.12:g.136459783G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Met1723Thr	rs769433798	missense variant	-	NC_000009.12:g.136459780A>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Met1723Ile	rs1390499587	missense variant	-	NC_000009.12:g.136459779C>T	gnomAD
SEC16A	O15027	p.Ala1724Pro	COSM3929920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136459778C>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Met1726Thr	rs1314553963	missense variant	-	NC_000009.12:g.136459771A>G	TOPMed,gnomAD
SEC16A	O15027	p.Asp1728Glu	rs1171721477	missense variant	-	NC_000009.12:g.136459764G>T	gnomAD
SEC16A	O15027	p.Asp1728Asn	rs1374702909	missense variant	-	NC_000009.12:g.136459766C>T	gnomAD
SEC16A	O15027	p.Ala1731Ser	rs1482999316	missense variant	-	NC_000009.12:g.136459757C>A	gnomAD
SEC16A	O15027	p.Arg1733Ser	rs1420355602	missense variant	-	NC_000009.12:g.136459548C>A	gnomAD
SEC16A	O15027	p.Arg1733Trp	rs777876319	missense variant	-	NC_000009.12:g.136459550T>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1734Ser	rs1386603102	missense variant	-	NC_000009.12:g.136459547C>T	TOPMed,gnomAD
SEC16A	O15027	p.Leu1736Phe	rs1328129768	missense variant	-	NC_000009.12:g.136459539C>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala1738Glu	rs983552207	missense variant	-	NC_000009.12:g.136459534G>T	TOPMed,gnomAD
SEC16A	O15027	p.Ala1738Val	rs983552207	missense variant	-	NC_000009.12:g.136459534G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala1738Ser	rs939757434	missense variant	-	NC_000009.12:g.136459535C>A	TOPMed
SEC16A	O15027	p.Phe1741Leu	rs765062864	missense variant	-	NC_000009.12:g.136459524G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr1743His	rs759172576	missense variant	-	NC_000009.12:g.136459520A>G	ExAC,gnomAD
SEC16A	O15027	p.Met1745Val	rs765956098	missense variant	-	NC_000009.12:g.136459514T>C	ExAC,gnomAD
SEC16A	O15027	p.Ala1746Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136459511C>A	NCI-TCGA
SEC16A	O15027	p.Ala1746Thr	rs369967246	missense variant	-	NC_000009.12:g.136459511C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1746Val	rs772664424	missense variant	-	NC_000009.12:g.136459510G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1747Glu	rs772607132	missense variant	-	NC_000009.12:g.136459508G>C	ExAC,gnomAD
SEC16A	O15027	p.Gln1747Arg	rs1197266771	missense variant	-	NC_000009.12:g.136459507T>C	TOPMed,gnomAD
SEC16A	O15027	p.Ala1748Ser	rs762358376	missense variant	-	NC_000009.12:g.136459505C>A	ExAC,gnomAD
SEC16A	O15027	p.Ala1748Val	rs774634391	missense variant	-	NC_000009.12:g.136459504G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1749Glu	rs1305790575	missense variant	-	NC_000009.12:g.136459501C>T	gnomAD
SEC16A	O15027	p.Gly1749Arg	rs1363107474	missense variant	-	NC_000009.12:g.136459502C>T	gnomAD
SEC16A	O15027	p.Val1752Ala	rs1485167995	missense variant	-	NC_000009.12:g.136459492A>G	gnomAD
SEC16A	O15027	p.Thr1754Met	rs57905554	missense variant	-	NC_000009.12:g.136459486G>A	ExAC,gnomAD
SEC16A	O15027	p.Thr1754Ala	rs780438513	missense variant	-	NC_000009.12:g.136459487T>C	ExAC,gnomAD
SEC16A	O15027	p.Lys1755Arg	rs1323373480	missense variant	-	NC_000009.12:g.136459483T>C	TOPMed
SEC16A	O15027	p.Lys1756Ile	rs758320813	missense variant	-	NC_000009.12:g.136459480T>A	ExAC,gnomAD
SEC16A	O15027	p.Lys1756Glu	rs781393369	missense variant	-	NC_000009.12:g.136459481T>C	ExAC,gnomAD
SEC16A	O15027	p.Thr1758Ala	rs748106572	missense variant	-	NC_000009.12:g.136459475T>C	ExAC,gnomAD
SEC16A	O15027	p.Thr1758Arg	rs1222226314	missense variant	-	NC_000009.12:g.136459474G>C	TOPMed
SEC16A	O15027	p.Leu1760Phe	rs1173656583	missense variant	-	NC_000009.12:g.136459469G>A	gnomAD
SEC16A	O15027	p.Asn1766Ser	rs753523902	missense variant	-	NC_000009.12:g.136459450T>C	ExAC,gnomAD
SEC16A	O15027	p.Pro1770Arg	rs776911748	missense variant	-	NC_000009.12:g.136459234G>C	ExAC,gnomAD
SEC16A	O15027	p.Pro1770Ser	rs776639951	missense variant	-	NC_000009.12:g.136459235G>A	ExAC,gnomAD
SEC16A	O15027	p.Phe1771Ser	rs771041331	missense variant	-	NC_000009.12:g.136459231A>G	ExAC,gnomAD
SEC16A	O15027	p.Phe1774Cys	rs1486546768	missense variant	-	NC_000009.12:g.136459222A>C	gnomAD
SEC16A	O15027	p.Ala1775Thr	rs778929428	missense variant	-	NC_000009.12:g.136459220C>T	ExAC,gnomAD
SEC16A	O15027	p.Thr1776Ser	rs1309968994	missense variant	-	NC_000009.12:g.136459216G>C	TOPMed
SEC16A	O15027	p.Asn1777Ser	rs1349660553	missense variant	-	NC_000009.12:g.136459213T>C	TOPMed
SEC16A	O15027	p.Glu1778Asp	rs749117759	missense variant	-	NC_000009.12:g.136459209T>G	ExAC,gnomAD
SEC16A	O15027	p.Glu1778Lys	rs770859710	missense variant	-	NC_000009.12:g.136459211C>T	-
SEC16A	O15027	p.Ala1779Glu	rs779801928	missense variant	-	NC_000009.12:g.136459207G>T	ExAC,gnomAD
SEC16A	O15027	p.Ile1780Val	rs1351603546	missense variant	-	NC_000009.12:g.136459205T>C	gnomAD
SEC16A	O15027	p.Arg1782Ser	COSM5113397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136459197C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Thr1783Met	rs750071670	missense variant	-	NC_000009.12:g.136459195G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1784Lys	rs756807709	missense variant	-	NC_000009.12:g.136459193C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala1789Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136459178C>G	NCI-TCGA
SEC16A	O15027	p.Ala1789Thr	rs923555219	missense variant	-	NC_000009.12:g.136459178C>T	TOPMed,gnomAD
SEC16A	O15027	p.Gln1790Arg	rs1400785161	missense variant	-	NC_000009.12:g.136459174T>C	gnomAD
SEC16A	O15027	p.Ser1791Tyr	rs1383742166	missense variant	-	NC_000009.12:g.136459171G>T	gnomAD
SEC16A	O15027	p.Ser1791Phe	rs1383742166	missense variant	-	NC_000009.12:g.136459171G>A	gnomAD
SEC16A	O15027	p.Leu1792Pro	rs776051456	missense variant	-	NC_000009.12:g.136459168A>G	ExAC,gnomAD
SEC16A	O15027	p.Glu1795Lys	rs776999704	missense variant	-	NC_000009.12:g.136459160C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr1796Ile	rs747140400	missense variant	-	NC_000009.12:g.136459156G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr1796Ser	rs373191908	missense variant	-	NC_000009.12:g.136459157T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Cys1797Ter	rs1207100235	stop gained	-	NC_000009.12:g.136459152G>T	TOPMed,gnomAD
SEC16A	O15027	p.Cys1797Ser	rs1447675341	missense variant	-	NC_000009.12:g.136459154A>T	TOPMed,gnomAD
SEC16A	O15027	p.Cys1797Arg	rs1447675341	missense variant	-	NC_000009.12:g.136459154A>G	TOPMed,gnomAD
SEC16A	O15027	p.Cys1797Tyr	rs1267696529	missense variant	-	NC_000009.12:g.136459153C>T	gnomAD
SEC16A	O15027	p.Pro1798Ser	rs773130461	missense variant	-	NC_000009.12:g.136459151G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1800His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136459144G>T	NCI-TCGA
SEC16A	O15027	p.Pro1800Ala	rs375988732	missense variant	-	NC_000009.12:g.136459145G>C	ESP,ExAC,gnomAD
SEC16A	O15027	p.Ser1801Gly	rs537637442	missense variant	-	NC_000009.12:g.136459142T>C	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Gln1803Pro	rs1467297561	missense variant	-	NC_000009.12:g.136459135T>G	TOPMed
SEC16A	O15027	p.Phe1807Leu	rs1487697826	missense variant	-	NC_000009.12:g.136457573G>C	gnomAD
SEC16A	O15027	p.Arg1812His	COSM5163194	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136457559C>T	NCI-TCGA Cosmic
SEC16A	O15027	p.Leu1813Met	rs1341990451	missense variant	-	NC_000009.12:g.136457557G>T	gnomAD
SEC16A	O15027	p.Leu1813Val	rs1341990451	missense variant	-	NC_000009.12:g.136457557G>C	gnomAD
SEC16A	O15027	p.Ala1814Val	rs367857932	missense variant	-	NC_000009.12:g.136457553G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1815Gly	rs1348011833	missense variant	-	NC_000009.12:g.136457550T>C	gnomAD
SEC16A	O15027	p.Met1816Ile	rs1456817243	missense variant	-	NC_000009.12:g.136457546C>A	TOPMed
SEC16A	O15027	p.Ala1819Val	rs1043213681	missense variant	-	NC_000009.12:g.136457538G>A	gnomAD
SEC16A	O15027	p.Thr1820Met	rs959251833	missense variant	-	NC_000009.12:g.136457535G>A	TOPMed,gnomAD
SEC16A	O15027	p.Phe1823Leu	rs1453046024	missense variant	-	NC_000009.12:g.136457527A>G	TOPMed
SEC16A	O15027	p.Tyr1825Ter	rs752198892	stop gained	-	NC_000009.12:g.136457519G>C	ExAC,gnomAD
SEC16A	O15027	p.Cys1826Arg	rs1480735124	missense variant	-	NC_000009.12:g.136457518A>G	TOPMed,gnomAD
SEC16A	O15027	p.Glu1827Asp	rs145809910	missense variant	-	NC_000009.12:g.136457513C>G	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Ala1828Ser	rs1376443714	missense variant	-	NC_000009.12:g.136457512C>A	TOPMed
SEC16A	O15027	p.Ala1828Asp	rs755507966	missense variant	-	NC_000009.12:g.136457511G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ile1829Met	rs754274293	missense variant	-	NC_000009.12:g.136457507G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ile1829Val	rs1175613008	missense variant	-	NC_000009.12:g.136457509T>C	gnomAD
SEC16A	O15027	p.Ala1830Val	rs750614512	missense variant	-	NC_000009.12:g.136457505G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala1830Thr	rs761024052	missense variant	-	NC_000009.12:g.136457506C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala1830Gly	rs750614512	missense variant	-	NC_000009.12:g.136457505G>C	ExAC,gnomAD
SEC16A	O15027	p.Ala1830Ser	rs761024052	missense variant	-	NC_000009.12:g.136457506C>A	ExAC,gnomAD
SEC16A	O15027	p.Ala1830Thr	rs761024052	missense variant	-	NC_000009.12:g.136457506C>T	NCI-TCGA
SEC16A	O15027	p.Lys1831Gln	rs553995409	missense variant	-	NC_000009.12:g.136457503T>G	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Ile1833Thr	rs1027253085	missense variant	-	NC_000009.12:g.136457496A>G	TOPMed
SEC16A	O15027	p.Leu1834Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136457494G>T	NCI-TCGA
SEC16A	O15027	p.Thr1835Met	rs375402830	missense variant	-	NC_000009.12:g.136457490G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1836Arg	rs1300308040	missense variant	-	NC_000009.12:g.136457487T>C	gnomAD
SEC16A	O15027	p.Pro1837Leu	rs772867748	missense variant	-	NC_000009.12:g.136457484G>A	ExAC,gnomAD
SEC16A	O15027	p.His1838Gln	rs770632020	missense variant	-	NC_000009.12:g.136457480G>T	ExAC,gnomAD
SEC16A	O15027	p.Leu1839Arg	rs772756686	missense variant	-	NC_000009.12:g.136457478A>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1839Gln	rs772756686	missense variant	-	NC_000009.12:g.136457478A>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1842Leu	rs538205374	missense variant	-	NC_000009.12:g.136457469G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1844Phe	rs756447431	missense variant	-	NC_000009.12:g.136457462C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ile1845Val	rs1174756835	missense variant	-	NC_000009.12:g.136457461T>C	gnomAD
SEC16A	O15027	p.Ser1846Gly	rs1160143715	missense variant	-	NC_000009.12:g.136457458T>C	gnomAD
SEC16A	O15027	p.Gln1847His	rs757496613	missense variant	-	NC_000009.12:g.136457453C>G	ExAC,gnomAD
SEC16A	O15027	p.Val1849Leu	rs1410273629	missense variant	-	NC_000009.12:g.136457449C>A	gnomAD
SEC16A	O15027	p.Met1851Val	rs529797011	missense variant	-	NC_000009.12:g.136456166T>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Met1851Leu	rs529797011	missense variant	-	NC_000009.12:g.136456166T>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1853Phe	rs771293722	missense variant	-	NC_000009.12:g.136456159G>A	ExAC,gnomAD
SEC16A	O15027	p.Arg1856Ter	COSM4878547	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136456151G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Arg1856Gln	rs747321543	missense variant	-	NC_000009.12:g.136456150C>T	ExAC,gnomAD
SEC16A	O15027	p.Leu1857Phe	rs756148425	missense variant	-	NC_000009.12:g.136456148G>A	TOPMed
SEC16A	O15027	p.Phe1858Leu	rs17610266	missense variant	-	NC_000009.12:g.136456143G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Phe1858Leu	rs149545284	missense variant	-	NC_000009.12:g.136456145A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1859His	rs779034061	missense variant	-	NC_000009.12:g.136456142C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp1859Asn	rs779034061	missense variant	-	NC_000009.12:g.136456142C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1860Leu	rs751362147	missense variant	-	NC_000009.12:g.136456138G>A	TOPMed,gnomAD
SEC16A	O15027	p.Gln1861Leu	rs1394488307	missense variant	-	NC_000009.12:g.136456135T>A	TOPMed
SEC16A	O15027	p.Leu1862Pro	rs750387169	missense variant	-	NC_000009.12:g.136456132A>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1866Ser	rs1388442083	missense variant	-	NC_000009.12:g.136456121G>A	TOPMed
SEC16A	O15027	p.Pro1866Ser	rs1388442083	missense variant	-	NC_000009.12:g.136456121G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Glu1867Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136456118C>T	NCI-TCGA
SEC16A	O15027	p.Glu1868Lys	rs761722324	missense variant	-	NC_000009.12:g.136456115C>T	ExAC,gnomAD
SEC16A	O15027	p.Glu1869Lys	rs751358492	missense variant	-	NC_000009.12:g.136456112C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser1870Cys	rs369788591	missense variant	-	NC_000009.12:g.136456108G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1870Phe	rs369788591	missense variant	-	NC_000009.12:g.136456108G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1872Asp	rs1234317529	missense variant	-	NC_000009.12:g.136456102G>T	gnomAD
SEC16A	O15027	p.Ala1872Ser	rs1231833874	missense variant	-	NC_000009.12:g.136456103C>A	TOPMed
SEC16A	O15027	p.Ala1872Val	COSM4895461	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136456102G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Ala1873Thr	rs138068163	missense variant	-	NC_000009.12:g.136456100C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1873Ser	rs138068163	missense variant	-	NC_000009.12:g.136456100C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1873Pro	rs138068163	missense variant	-	NC_000009.12:g.136456100C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1873Thr	rs138068163	missense variant	-	NC_000009.12:g.136456100C>T	NCI-TCGA,NCI-TCGA Cosmic
SEC16A	O15027	p.Thr1875Met	rs892972459	missense variant	-	NC_000009.12:g.136456093G>A	TOPMed,gnomAD
SEC16A	O15027	p.Trp1876Arg	COSM3905696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136456091A>G	NCI-TCGA Cosmic
SEC16A	O15027	p.Trp1876Ter	rs1212134066	stop gained	-	NC_000009.12:g.136456090C>T	TOPMed
SEC16A	O15027	p.Val1878Ile	rs1472048838	missense variant	-	NC_000009.12:g.136456085C>T	gnomAD
SEC16A	O15027	p.Val1878Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136456085C>A	NCI-TCGA
SEC16A	O15027	p.His1879Asn	rs1427226108	missense variant	-	NC_000009.12:g.136456082G>T	gnomAD
SEC16A	O15027	p.Leu1880Arg	rs1257839137	missense variant	-	NC_000009.12:g.136456078A>C	gnomAD
SEC16A	O15027	p.Leu1880Val	rs1172784096	missense variant	-	NC_000009.12:g.136456079G>C	gnomAD
SEC16A	O15027	p.Gln1881Arg	rs771381458	missense variant	-	NC_000009.12:g.136456075T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1882His	rs1472815950	missense variant	-	NC_000009.12:g.136456071C>A	gnomAD
SEC16A	O15027	p.Gln1882Glu	rs1183641094	missense variant	-	NC_000009.12:g.136456073G>C	gnomAD
SEC16A	O15027	p.Val1883Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136456070C>G	NCI-TCGA
SEC16A	O15027	p.Glu1884Lys	rs778173554	missense variant	-	NC_000009.12:g.136456067C>T	ExAC,gnomAD
SEC16A	O15027	p.Arg1885Gln	rs748393006	missense variant	-	NC_000009.12:g.136456063C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1885Trp	rs45464197	missense variant	-	NC_000009.12:g.136456064G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ile1887Met	rs1201115344	missense variant	-	NC_000009.12:g.136456056A>C	gnomAD
SEC16A	O15027	p.Lys1888Arg	rs1344511016	missense variant	-	NC_000009.12:g.136456054T>C	gnomAD
SEC16A	O15027	p.Ala1891Thr	rs748400067	missense variant	-	NC_000009.12:g.136455787C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1893Ile	rs768958293	missense variant	-	NC_000009.12:g.136455781C>T	ExAC,gnomAD
SEC16A	O15027	p.Gln1896His	COSM1106795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136455770C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Asp1897Glu	rs532287195	missense variant	-	NC_000009.12:g.136455767A>C	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Asp1897Asn	rs181398018	missense variant	-	NC_000009.12:g.136455769C>T	1000Genomes
SEC16A	O15027	p.Gly1898Arg	rs368479046	missense variant	-	NC_000009.12:g.136455766C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1898Glu	rs757322485	missense variant	-	NC_000009.12:g.136455765C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1899Ser	rs746938982	missense variant	-	NC_000009.12:g.136455763C>A	ExAC,gnomAD
SEC16A	O15027	p.Leu1900Pro	rs777507267	missense variant	-	NC_000009.12:g.136455759A>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1901Leu	rs58268999	missense variant	-	NC_000009.12:g.136455756G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1901Thr	rs758229553	missense variant	-	NC_000009.12:g.136455757G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1901Ala	rs758229553	missense variant	-	NC_000009.12:g.136455757G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1902Arg	rs1207158915	missense variant	-	NC_000009.12:g.136455753T>C	gnomAD
SEC16A	O15027	p.Gln1903Ter	COSM270117	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136455751G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gln1903His	rs764977103	missense variant	-	NC_000009.12:g.136455749C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Cys1904Tyr	rs1228313865	missense variant	-	NC_000009.12:g.136455747C>T	gnomAD
SEC16A	O15027	p.Pro1905Leu	rs1353644681	missense variant	-	NC_000009.12:g.136455744G>A	gnomAD
SEC16A	O15027	p.Pro1905Ser	COSM5120202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136455745G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Gly1906Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136455741C>T	NCI-TCGA
SEC16A	O15027	p.Thr1907Ile	rs753400633	missense variant	-	NC_000009.12:g.136455738G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1908Leu	rs765866193	missense variant	-	NC_000009.12:g.136455735G>A	ExAC,gnomAD
SEC16A	O15027	p.Ser1909Asn	rs767862150	missense variant	-	NC_000009.12:g.136455732C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1909Ile	rs767862150	missense variant	-	NC_000009.12:g.136455732C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1909Arg	rs1350301603	missense variant	-	NC_000009.12:g.136455731A>T	gnomAD
SEC16A	O15027	p.Glu1911Gln	rs774548304	missense variant	-	NC_000009.12:g.136455727C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1911Lys	rs774548304	missense variant	-	NC_000009.12:g.136455727C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu1911Asp	rs1421572260	missense variant	-	NC_000009.12:g.136455725C>A	gnomAD
SEC16A	O15027	p.Leu1915Phe	rs1367418913	missense variant	-	NC_000009.12:g.136455713C>A	gnomAD
SEC16A	O15027	p.Asp1916His	rs1193337381	missense variant	-	NC_000009.12:g.136455712C>G	gnomAD
SEC16A	O15027	p.Arg1917Gly	rs1426966224	missense variant	-	NC_000009.12:g.136455709T>C	TOPMed
SEC16A	O15027	p.Gly1919Val	rs990987595	missense variant	-	NC_000009.12:g.136455702C>A	TOPMed,gnomAD
SEC16A	O15027	p.Leu1920Phe	rs749509274	missense variant	-	NC_000009.12:g.136455700G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1923Ser	rs1431030038	missense variant	-	NC_000009.12:g.136455691G>A	TOPMed
SEC16A	O15027	p.Ala1925Ser	rs1221307676	missense variant	-	NC_000009.12:g.136455685C>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala1925Thr	rs1221307676	missense variant	-	NC_000009.12:g.136455685C>T	TOPMed,gnomAD
SEC16A	O15027	p.Ala1925Val	rs770000510	missense variant	-	NC_000009.12:g.136455684G>A	ExAC,gnomAD
SEC16A	O15027	p.Leu1926Pro	rs1277424892	missense variant	-	NC_000009.12:g.136455681A>G	gnomAD
SEC16A	O15027	p.Gly1927Arg	rs1246184734	missense variant	-	NC_000009.12:g.136455679C>G	gnomAD
SEC16A	O15027	p.Ala1929Thr	rs150198392	missense variant	-	NC_000009.12:g.136455673C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1929Thr	rs150198392	missense variant	-	NC_000009.12:g.136455673C>T	NCI-TCGA
SEC16A	O15027	p.Asn1930Ser	rs898334245	missense variant	-	NC_000009.12:g.136455669T>C	TOPMed
SEC16A	O15027	p.Leu1933Val	rs777791960	missense variant	-	NC_000009.12:g.136455661G>C	ExAC,gnomAD
SEC16A	O15027	p.Ala1934Val	rs748018933	missense variant	-	NC_000009.12:g.136455657G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1934Thr	rs758231024	missense variant	-	NC_000009.12:g.136455658C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala1937Thr	rs753488642	missense variant	-	NC_000009.12:g.136455649C>T	NCI-TCGA
SEC16A	O15027	p.Ala1937Thr	rs753488642	missense variant	-	NC_000009.12:g.136455649C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro1938Leu	rs779621488	missense variant	-	NC_000009.12:g.136455645G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1939Arg	rs1435063692	missense variant	-	NC_000009.12:g.136455641G>C	TOPMed,gnomAD
SEC16A	O15027	p.Ser1939Asn	rs1166945687	missense variant	-	NC_000009.12:g.136455642C>T	gnomAD
SEC16A	O15027	p.Pro1940Ser	rs1426157363	missense variant	-	NC_000009.12:g.136455640G>A	gnomAD
SEC16A	O15027	p.His1942Gln	rs1230958266	missense variant	-	NC_000009.12:g.136455632G>C	TOPMed
SEC16A	O15027	p.His1942Tyr	rs1190926995	missense variant	-	NC_000009.12:g.136455634G>A	gnomAD
SEC16A	O15027	p.Ser1943Leu	rs200055187	missense variant	-	NC_000009.12:g.136455630G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser1943Trp	rs200055187	missense variant	-	NC_000009.12:g.136455630G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1945Leu	rs560896630	missense variant	-	NC_000009.12:g.136455624G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1945Arg	rs560896630	missense variant	-	NC_000009.12:g.136455624G>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1947Met	rs542602809	missense variant	-	NC_000009.12:g.136455619C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1947Leu	rs542602809	missense variant	-	NC_000009.12:g.136455619C>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val1947Leu	rs542602809	missense variant	-	NC_000009.12:g.136455619C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg1948Gln	rs1300188293	missense variant	-	NC_000009.12:g.136455615C>T	gnomAD
SEC16A	O15027	p.Arg1948Trp	rs376004494	missense variant	-	NC_000009.12:g.136455616G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1950Pro	rs776546726	missense variant	-	NC_000009.12:g.136455609A>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1951His	rs1168180491	missense variant	-	NC_000009.12:g.136455606G>T	TOPMed
SEC16A	O15027	p.Ala1953Thr	rs772099975	missense variant	-	NC_000009.12:g.136455601C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro1954Ser	rs768537955	missense variant	-	NC_000009.12:g.136454325G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro1954Leu	rs749120025	missense variant	-	NC_000009.12:g.136454324G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln1955His	rs1248288005	missense variant	-	NC_000009.12:g.136454320C>G	gnomAD
SEC16A	O15027	p.Thr1956Met	rs201805134	missense variant	-	NC_000009.12:g.136454318G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1960Arg	rs533127181	missense variant	-	NC_000009.12:g.136454307C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1960Cys	rs533127181	missense variant	-	NC_000009.12:g.136454307C>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1960Ser	rs533127181	missense variant	-	NC_000009.12:g.136454307C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1960Asp	rs1322399058	missense variant	-	NC_000009.12:g.136454306C>T	gnomAD
SEC16A	O15027	p.Gly1960Val	rs1322399058	missense variant	-	NC_000009.12:g.136454306C>A	gnomAD
SEC16A	O15027	p.Pro1961Ser	rs1312012420	missense variant	-	NC_000009.12:g.136454304G>A	gnomAD
SEC16A	O15027	p.Ala1963Val	rs79974534	missense variant	-	NC_000009.12:g.136454297G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro1965Ser	rs1321499136	missense variant	-	NC_000009.12:g.136454292G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro1965Thr	rs1321499136	missense variant	-	NC_000009.12:g.136454292G>T	TOPMed,gnomAD
SEC16A	O15027	p.Pro1969Arg	rs1025429889	missense variant	-	NC_000009.12:g.136454279G>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro1969Leu	rs1025429889	missense variant	-	NC_000009.12:g.136454279G>A	TOPMed,gnomAD
SEC16A	O15027	p.Met1970Val	rs753165475	missense variant	-	NC_000009.12:g.136454277T>C	ExAC,gnomAD
SEC16A	O15027	p.Met1970Thr	rs1368416512	missense variant	-	NC_000009.12:g.136454276A>G	TOPMed,gnomAD
SEC16A	O15027	p.Met1970Ile	rs765509375	missense variant	-	NC_000009.12:g.136454275C>A	ExAC,gnomAD
SEC16A	O15027	p.Met1970Leu	rs753165475	missense variant	-	NC_000009.12:g.136454277T>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1974Leu	COSM4849353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136454264G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Pro1976Arg	rs529389335	missense variant	-	NC_000009.12:g.136454258G>C	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Pro1977Leu	rs187124099	missense variant	-	NC_000009.12:g.136454255G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1978Val	rs866266711	missense variant	-	NC_000009.12:g.136454252C>A	TOPMed,gnomAD
SEC16A	O15027	p.Gly1978Glu	rs866266711	missense variant	-	NC_000009.12:g.136454252C>T	TOPMed,gnomAD
SEC16A	O15027	p.Pro1979Arg	rs773243663	missense variant	-	NC_000009.12:g.136454249G>C	ExAC,gnomAD
SEC16A	O15027	p.Leu1980Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136454247G>T	NCI-TCGA
SEC16A	O15027	p.Glu1981Asp	rs867374832	missense variant	-	NC_000009.12:g.136454242C>A	TOPMed,gnomAD
SEC16A	O15027	p.Glu1981Lys	rs762863494	missense variant	-	NC_000009.12:g.136454244C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro1982Ser	rs1303792618	missense variant	-	NC_000009.12:g.136454241G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro1982Leu	rs775330433	missense variant	-	NC_000009.12:g.136454240G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1983Arg	rs1001853612	missense variant	-	NC_000009.12:g.136454238C>G	gnomAD
SEC16A	O15027	p.Gly1983Ser	rs1001853612	missense variant	-	NC_000009.12:g.136454238C>T	gnomAD
SEC16A	O15027	p.Pro1984Ala	rs1006237082	missense variant	-	NC_000009.12:g.136454235G>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro1984Ser	rs1006237082	missense variant	-	NC_000009.12:g.136454235G>A	TOPMed,gnomAD
SEC16A	O15027	p.Cys1986Tyr	rs1167568764	missense variant	-	NC_000009.12:g.136454228C>T	gnomAD
SEC16A	O15027	p.Thr1988Ile	rs1474183553	missense variant	-	NC_000009.12:g.136454222G>A	gnomAD
SEC16A	O15027	p.Pro1989Leu	rs1199243422	missense variant	-	NC_000009.12:g.136454219G>A	gnomAD
SEC16A	O15027	p.Gly1990Ala	rs776171898	missense variant	-	NC_000009.12:g.136454216C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly1990Glu	rs776171898	missense variant	-	NC_000009.12:g.136454216C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala1992Val	rs998208399	missense variant	-	NC_000009.12:g.136454210G>A	TOPMed
SEC16A	O15027	p.Ala1992Ser	rs371307879	missense variant	-	NC_000009.12:g.136454211C>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu1993Val	rs1484067722	missense variant	-	NC_000009.12:g.136454208G>C	gnomAD
SEC16A	O15027	p.Phe1995Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136454200G>T	NCI-TCGA
SEC16A	O15027	p.Leu1996Pro	rs759036202	missense variant	-	NC_000009.12:g.136454198A>G	ExAC,gnomAD
SEC16A	O15027	p.Pro1998Ser	rs1258021834	missense variant	-	NC_000009.12:g.136454193G>A	TOPMed,gnomAD
SEC16A	O15027	p.Gly2000Arg	rs779414549	missense variant	-	NC_000009.12:g.136454187C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2000Trp	rs779414549	missense variant	-	NC_000009.12:g.136454187C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu2003Phe	rs910863545	missense variant	-	NC_000009.12:g.136454178G>A	TOPMed,gnomAD
SEC16A	O15027	p.Leu2003Ile	rs910863545	missense variant	-	NC_000009.12:g.136454178G>T	TOPMed,gnomAD
SEC16A	O15027	p.Pro2005His	rs1465036518	missense variant	-	NC_000009.12:g.136454171G>T	TOPMed
SEC16A	O15027	p.Gly2006Ala	rs1306808497	missense variant	-	NC_000009.12:g.136454168C>G	gnomAD
SEC16A	O15027	p.Gly2006Ser	rs1300261532	missense variant	-	NC_000009.12:g.136454169C>T	TOPMed
SEC16A	O15027	p.Gly2006Asp	rs1306808497	missense variant	-	NC_000009.12:g.136454168C>T	gnomAD
SEC16A	O15027	p.Leu2010Met	rs1407734617	missense variant	-	NC_000009.12:g.136454157G>T	gnomAD
SEC16A	O15027	p.Leu2010Pro	rs1378164975	missense variant	-	NC_000009.12:g.136454156A>G	TOPMed
SEC16A	O15027	p.Gln2011Ter	rs1403854194	stop gained	-	NC_000009.12:g.136454154G>A	gnomAD
SEC16A	O15027	p.Arg2014Thr	rs1446257928	missense variant	-	NC_000009.12:g.136454144C>G	TOPMed
SEC16A	O15027	p.His2015Tyr	rs1427009497	missense variant	-	NC_000009.12:g.136454142G>A	gnomAD
SEC16A	O15027	p.Gln2018Arg	rs754188374	missense variant	-	NC_000009.12:g.136454132T>C	ExAC,gnomAD
SEC16A	O15027	p.Ser2022Asn	rs1053553428	missense variant	-	NC_000009.12:g.136454120C>T	TOPMed,gnomAD
SEC16A	O15027	p.Ser2022Arg	rs1373197814	missense variant	-	NC_000009.12:g.136454121T>G	TOPMed
SEC16A	O15027	p.Ser2022Thr	rs1053553428	missense variant	-	NC_000009.12:g.136454120C>G	TOPMed,gnomAD
SEC16A	O15027	p.Ser2022Ile	rs1053553428	missense variant	-	NC_000009.12:g.136454120C>A	TOPMed,gnomAD
SEC16A	O15027	p.Asp2024Tyr	rs1310360973	missense variant	-	NC_000009.12:g.136454115C>A	TOPMed
SEC16A	O15027	p.Pro2025Leu	rs1261587320	missense variant	-	NC_000009.12:g.136454111G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro2025Ser	rs1344748257	missense variant	-	NC_000009.12:g.136454112G>A	TOPMed,gnomAD
SEC16A	O15027	p.Gly2026Arg	rs1050406033	missense variant	-	NC_000009.12:g.136454109C>T	TOPMed,gnomAD
SEC16A	O15027	p.Gly2026Trp	rs1050406033	missense variant	-	NC_000009.12:g.136454109C>A	TOPMed,gnomAD
SEC16A	O15027	p.Ile2027Leu	rs1356706152	missense variant	-	NC_000009.12:g.136453508T>A	gnomAD
SEC16A	O15027	p.Ile2027Met	rs1249749630	missense variant	-	NC_000009.12:g.136453506T>C	gnomAD
SEC16A	O15027	p.Pro2029Ser	rs1425366978	missense variant	-	NC_000009.12:g.136453502G>A	TOPMed
SEC16A	O15027	p.Pro2029Gln	rs202042941	missense variant	-	NC_000009.12:g.136453501G>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2029Leu	rs202042941	missense variant	-	NC_000009.12:g.136453501G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2032Val	rs1364019605	missense variant	-	NC_000009.12:g.136453492G>A	gnomAD
SEC16A	O15027	p.Ser2037Pro	rs773017219	missense variant	-	NC_000009.12:g.136453478A>G	ExAC,gnomAD
SEC16A	O15027	p.Leu2038Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136453475G>A	NCI-TCGA
SEC16A	O15027	p.Ser2039Cys	rs896234953	missense variant	-	NC_000009.12:g.136453471G>C	TOPMed,gnomAD
SEC16A	O15027	p.Glu2040Lys	rs370992876	missense variant	-	NC_000009.12:g.136453469C>T	ESP,ExAC,gnomAD
SEC16A	O15027	p.Leu2041Ile	rs1170712798	missense variant	-	NC_000009.12:g.136453466G>T	gnomAD
SEC16A	O15027	p.Glu2043Lys	rs373011807	missense variant	-	NC_000009.12:g.136453460C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu2044Ter	COSM1106791	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136453457C>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Glu2044Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136453455T>G	NCI-TCGA
SEC16A	O15027	p.Phe2046Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136453450A>C	NCI-TCGA
SEC16A	O15027	p.Asp2047Val	rs200814626	missense variant	-	NC_000009.12:g.136453447T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2048Arg	rs1199403000	missense variant	-	NC_000009.12:g.136453445C>T	gnomAD
SEC16A	O15027	p.Gly2048Glu	rs780357410	missense variant	-	NC_000009.12:g.136453444C>T	ExAC,gnomAD
SEC16A	O15027	p.Lys2049Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136453442T>G	NCI-TCGA
SEC16A	O15027	p.Ala2051Val	rs1048991462	missense variant	-	NC_000009.12:g.136453435G>A	TOPMed
SEC16A	O15027	p.Ala2051Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136453436C>T	NCI-TCGA
SEC16A	O15027	p.Asn2052Lys	rs770157160	missense variant	-	NC_000009.12:g.136453431A>T	ExAC,gnomAD
SEC16A	O15027	p.Leu2053Val	rs746181909	missense variant	-	NC_000009.12:g.136453430G>C	ExAC,gnomAD
SEC16A	O15027	p.Thr2054Asn	rs780177096	missense variant	-	NC_000009.12:g.136451407G>T	ExAC,gnomAD
SEC16A	O15027	p.Pro2055His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136451404G>T	NCI-TCGA
SEC16A	O15027	p.Ser2056Leu	rs756095229	missense variant	-	NC_000009.12:g.136451401G>A	ExAC,gnomAD
SEC16A	O15027	p.Thr2058Met	rs45519739	missense variant	-	NC_000009.12:g.136451395G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val2059Leu	rs751237063	missense variant	-	NC_000009.12:g.136451393C>G	ExAC,gnomAD
SEC16A	O15027	p.Pro2060Arg	rs1280437927	missense variant	-	NC_000009.12:g.136451389G>C	TOPMed
SEC16A	O15027	p.Asp2061Gly	rs558511058	missense variant	-	NC_000009.12:g.136451386T>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser2062Leu	rs190567329	missense variant	-	NC_000009.12:g.136451383G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu2063Ala	rs1324585829	missense variant	-	NC_000009.12:g.136451380T>G	TOPMed
SEC16A	O15027	p.Glu2063Gln	rs765784078	missense variant	-	NC_000009.12:g.136451381C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2064Val	rs760025987	missense variant	-	NC_000009.12:g.136451377G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala2064Pro	rs1276657085	missense variant	-	NC_000009.12:g.136451378C>G	TOPMed
SEC16A	O15027	p.Ala2064Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136451378C>T	NCI-TCGA
SEC16A	O15027	p.Ala2064Asp	rs760025987	missense variant	-	NC_000009.12:g.136451377G>T	ExAC,gnomAD
SEC16A	O15027	p.Pro2065Leu	rs1383754360	missense variant	-	NC_000009.12:g.136451374G>A	gnomAD
SEC16A	O15027	p.Pro2065Ser	rs371968605	missense variant	-	NC_000009.12:g.136451375G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2066Ala	rs748305074	missense variant	-	NC_000009.12:g.136451372G>C	ExAC,gnomAD
SEC16A	O15027	p.Pro2066Arg	rs779120151	missense variant	-	NC_000009.12:g.136451371G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2066Ser	rs748305074	missense variant	-	NC_000009.12:g.136451372G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro2066Leu	rs779120151	missense variant	-	NC_000009.12:g.136451371G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2066GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136451371G>-	NCI-TCGA
SEC16A	O15027	p.Gly2067Val	rs1453587528	missense variant	-	NC_000009.12:g.136451368C>A	gnomAD
SEC16A	O15027	p.Gly2067Arg	rs1321799237	missense variant	-	NC_000009.12:g.136451369C>T	gnomAD
SEC16A	O15027	p.Asp2069Gly	COSM5170944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136451362T>C	NCI-TCGA Cosmic
SEC16A	O15027	p.Asp2069Asn	rs368640368	missense variant	-	NC_000009.12:g.136451363C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2070His	rs371962258	missense variant	-	NC_000009.12:g.136451359C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2070Cys	rs376784867	missense variant	-	NC_000009.12:g.136451360G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2071Val	rs529388073	missense variant	-	NC_000009.12:g.136451356G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp2072Glu	rs1204348769	missense variant	-	NC_000009.12:g.136451352G>T	gnomAD
SEC16A	O15027	p.Asp2072Asn	rs563339981	missense variant	-	NC_000009.12:g.136451354C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser2073Trp	rs768367463	missense variant	-	NC_000009.12:g.136451350G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser2073Leu	rs768367463	missense variant	-	NC_000009.12:g.136451350G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr2076Arg	rs760099669	missense variant	-	NC_000009.12:g.136451341G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr2076Met	rs760099669	missense variant	-	NC_000009.12:g.136451341G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln2077Lys	rs1314613051	missense variant	-	NC_000009.12:g.136451339G>T	gnomAD
SEC16A	O15027	p.Pro2079Thr	rs1244138061	missense variant	-	NC_000009.12:g.136451333G>T	gnomAD
SEC16A	O15027	p.Leu2082Phe	rs1380718509	missense variant	-	NC_000009.12:g.136451324G>A	gnomAD
SEC16A	O15027	p.Ser2083Leu	rs1367620366	missense variant	-	NC_000009.12:g.136451320G>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro2084Thr	rs1296664994	missense variant	-	NC_000009.12:g.136451318G>T	gnomAD
SEC16A	O15027	p.Ala2085Pro	rs370580753	missense variant	-	NC_000009.12:g.136451315C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2085Thr	rs370580753	missense variant	-	NC_000009.12:g.136451315C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2085Val	rs771846398	missense variant	-	NC_000009.12:g.136451314G>A	ExAC,gnomAD
SEC16A	O15027	p.Glu2087Lys	rs774356729	missense variant	-	NC_000009.12:g.136451309C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Glu2087Val	rs1161137770	missense variant	-	NC_000009.12:g.136451308T>A	gnomAD
SEC16A	O15027	p.Thr2088Arg	rs1431193477	missense variant	-	NC_000009.12:g.136451305G>C	gnomAD
SEC16A	O15027	p.Lys2089Gln	rs768702938	missense variant	-	NC_000009.12:g.136451303T>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys2089Glu	rs768702938	missense variant	-	NC_000009.12:g.136451303T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2090Lys	rs749288071	missense variant	-	NC_000009.12:g.136451299C>T	ExAC
SEC16A	O15027	p.Pro2091Ser	rs781301621	missense variant	-	NC_000009.12:g.136451297G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2092Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136451293C>T	NCI-TCGA
SEC16A	O15027	p.Gly2092Arg	rs747203873	missense variant	-	NC_000009.12:g.136451294C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gln2093His	rs1490532145	missense variant	-	NC_000009.12:g.136451289C>G	gnomAD
SEC16A	O15027	p.Ala2094Thr	rs777869421	missense variant	-	NC_000009.12:g.136451288C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys2096Thr	rs1390096384	missense variant	-	NC_000009.12:g.136451281T>G	TOPMed
SEC16A	O15027	p.Lys2096Gln	rs753052677	missense variant	-	NC_000009.12:g.136451282T>G	ExAC,gnomAD
SEC16A	O15027	p.Lys2097Glu	rs779305069	missense variant	-	NC_000009.12:g.136451279T>C	ExAC,gnomAD
SEC16A	O15027	p.Lys2097Arg	rs755452564	missense variant	-	NC_000009.12:g.136451278T>C	ExAC,gnomAD
SEC16A	O15027	p.Glu2098Gly	rs1325112644	missense variant	-	NC_000009.12:g.136451275T>C	TOPMed,gnomAD
SEC16A	O15027	p.Thr2099Met	rs1304046989	missense variant	-	NC_000009.12:g.136451272G>A	gnomAD
SEC16A	O15027	p.Lys2100Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136451268C>A	NCI-TCGA
SEC16A	O15027	p.Lys2100Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136451269T>C	NCI-TCGA
SEC16A	O15027	p.Lys2103Thr	rs765868709	missense variant	-	NC_000009.12:g.136451260T>G	ExAC,gnomAD
SEC16A	O15027	p.Lys2103Asn	rs760119742	missense variant	-	NC_000009.12:g.136451259C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys2104Glu	rs1321851013	missense variant	-	NC_000009.12:g.136451258T>C	TOPMed
SEC16A	O15027	p.Phe2110Leu	rs1309161851	missense variant	-	NC_000009.12:g.136448144A>T	TOPMed,gnomAD
SEC16A	O15027	p.Arg2111Leu	rs182435046	missense variant	-	NC_000009.12:g.136448142C>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2111Cys	rs1224436425	missense variant	-	NC_000009.12:g.136448143G>A	gnomAD
SEC16A	O15027	p.Arg2111His	rs182435046	missense variant	-	NC_000009.12:g.136448142C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2114Ser	rs1376077720	missense variant	-	NC_000009.12:g.136448134G>A	TOPMed
SEC16A	O15027	p.Lys2116Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136448126C>A	NCI-TCGA
SEC16A	O15027	p.Lys2117Arg	rs1444221239	missense variant	-	NC_000009.12:g.136448124T>C	TOPMed
SEC16A	O15027	p.Lys2118Arg	rs1454907497	missense variant	-	NC_000009.12:g.136448121T>C	gnomAD
SEC16A	O15027	p.Glu2120Gln	rs958197966	missense variant	-	NC_000009.12:g.136448116C>G	TOPMed,gnomAD
SEC16A	O15027	p.Ala2121Val	rs201354052	missense variant	-	NC_000009.12:g.136448112G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp2125His	rs1159139724	missense variant	-	NC_000009.12:g.136448101C>G	gnomAD
SEC16A	O15027	p.Asp2126Asn	rs1418039783	missense variant	-	NC_000009.12:g.136448098C>T	gnomAD
SEC16A	O15027	p.Ser2130Leu	rs1405314341	missense variant	-	NC_000009.12:g.136448085G>A	gnomAD
SEC16A	O15027	p.Asn2138Ile	rs773874146	missense variant	-	NC_000009.12:g.136447887T>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn2138Ser	rs773874146	missense variant	-	NC_000009.12:g.136447887T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Trp2140Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136447880C>G	NCI-TCGA
SEC16A	O15027	p.Leu2143Ter	rs771421215	stop gained	-	NC_000009.12:g.136447872A>C	ExAC,gnomAD
SEC16A	O15027	p.Glu2145Val	rs979188595	missense variant	-	NC_000009.12:g.136447866T>A	TOPMed,gnomAD
SEC16A	O15027	p.Pro2146Leu	rs747693132	missense variant	-	NC_000009.12:g.136447863G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Lys2151Asn	rs752806806	missense variant	-	NC_000009.12:g.136447675T>A	ExAC,gnomAD
SEC16A	O15027	p.Ala2152Pro	rs765281199	missense variant	-	NC_000009.12:g.136447674C>G	ExAC,gnomAD
SEC16A	O15027	p.Ala2152Thr	rs765281199	missense variant	-	NC_000009.12:g.136447674C>T	ExAC,gnomAD
SEC16A	O15027	p.Pro2153Ser	rs1377073825	missense variant	-	NC_000009.12:g.136447671G>A	gnomAD
SEC16A	O15027	p.Pro2153Leu	rs373660630	missense variant	-	NC_000009.12:g.136447670G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2154Ala	rs929399438	missense variant	-	NC_000009.12:g.136447668G>C	TOPMed,gnomAD
SEC16A	O15027	p.Pro2155Gln	rs773519355	missense variant	-	NC_000009.12:g.136447664G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2155HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136447664G>-	NCI-TCGA
SEC16A	O15027	p.Pro2155Arg	rs773519355	missense variant	-	NC_000009.12:g.136447664G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2156Ser	rs1456762922	missense variant	-	NC_000009.12:g.136447662G>A	gnomAD
SEC16A	O15027	p.Pro2156Leu	rs762279463	missense variant	-	NC_000009.12:g.136447661G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro2156Arg	rs762279463	missense variant	-	NC_000009.12:g.136447661G>C	ExAC,gnomAD
SEC16A	O15027	p.Thr2158Ile	rs897899440	missense variant	-	NC_000009.12:g.136447655G>A	TOPMed
SEC16A	O15027	p.Ser2159Leu	rs773883647	missense variant	-	NC_000009.12:g.136447652G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser2159Pro	rs1270199215	missense variant	-	NC_000009.12:g.136447653A>G	TOPMed,gnomAD
SEC16A	O15027	p.Met2160Thr	rs1272526954	missense variant	-	NC_000009.12:g.136447649A>G	gnomAD
SEC16A	O15027	p.Pro2161Ser	rs1328799354	missense variant	-	NC_000009.12:g.136447647G>A	gnomAD
SEC16A	O15027	p.Lys2162Gln	rs757812542	missense variant	-	NC_000009.12:g.136447644T>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val2164Leu	rs1335955741	missense variant	-	NC_000009.12:g.136447638C>G	TOPMed,gnomAD
SEC16A	O15027	p.Ala2166Asp	rs35292575	missense variant	-	NC_000009.12:g.136447631G>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Ala2166Val	rs35292575	missense variant	-	NC_000009.12:g.136447631G>A	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Pro2168Leu	rs370335440	missense variant	-	NC_000009.12:g.136447625G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2170Val	rs200690545	missense variant	-	NC_000009.12:g.136447619G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2175Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136447605G>A	NCI-TCGA
SEC16A	O15027	p.Gly2176Glu	rs369288224	missense variant	-	NC_000009.12:g.136447601C>T	ESP,TOPMed,gnomAD
SEC16A	O15027	p.Pro2178Ser	rs1400830836	missense variant	-	NC_000009.12:g.136447596G>A	TOPMed
SEC16A	O15027	p.Pro2178Leu	rs199835518	missense variant	-	NC_000009.12:g.136447595G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val2179Met	rs750782509	missense variant	-	NC_000009.12:g.136447593C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Met2181Arg	rs762344246	missense variant	-	NC_000009.12:g.136447586A>C	ExAC,gnomAD
SEC16A	O15027	p.Met2181Thr	rs762344246	missense variant	-	NC_000009.12:g.136447586A>G	ExAC,gnomAD
SEC16A	O15027	p.Met2181Val	rs1461232617	missense variant	-	NC_000009.12:g.136447587T>C	gnomAD
SEC16A	O15027	p.Tyr2182Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136447583T>C	NCI-TCGA
SEC16A	O15027	p.Tyr2182His	rs1447899172	missense variant	-	NC_000009.12:g.136447584A>G	TOPMed
SEC16A	O15027	p.Ser2183Tyr	rs774744505	missense variant	-	NC_000009.12:g.136447580G>T	ExAC,gnomAD
SEC16A	O15027	p.Ser2183Phe	rs774744505	missense variant	-	NC_000009.12:g.136447580G>A	ExAC,gnomAD
SEC16A	O15027	p.Arg2185Gly	rs1391061184	missense variant	-	NC_000009.12:g.136447575T>C	gnomAD
SEC16A	O15027	p.Ala2187Thr	rs763536459	missense variant	-	NC_000009.12:g.136447569C>T	ExAC,gnomAD
SEC16A	O15027	p.Arg2192Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136447349C>G	NCI-TCGA
SEC16A	O15027	p.Arg2192Cys	rs763509450	missense variant	-	NC_000009.12:g.136447350G>A	ExAC,gnomAD
SEC16A	O15027	p.Arg2192His	rs752180026	missense variant	-	NC_000009.12:g.136447349C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Tyr2193Phe	rs1170587442	missense variant	-	NC_000009.12:g.136447346T>A	TOPMed
SEC16A	O15027	p.Tyr2193Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136447346T>C	NCI-TCGA
SEC16A	O15027	p.Val2194Ile	rs776167624	missense variant	-	NC_000009.12:g.136447344C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val2194Ala	rs770699883	missense variant	-	NC_000009.12:g.136447343A>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val2196Phe	rs1190841856	missense variant	-	NC_000009.12:g.136447338C>A	gnomAD
SEC16A	O15027	p.Val2196Ile	rs1190841856	missense variant	-	NC_000009.12:g.136447338C>T	gnomAD
SEC16A	O15027	p.Pro2199Leu	rs1269150452	missense variant	-	NC_000009.12:g.136447328G>A	gnomAD
SEC16A	O15027	p.Gly2201Glu	rs1274797489	missense variant	-	NC_000009.12:g.136447322C>T	gnomAD
SEC16A	O15027	p.Gly2201Arg	rs748140921	missense variant	-	NC_000009.12:g.136447323C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr2202MetTyrGlyArgAspGlyArgTerAsnAla	rs755075828	stop gained	-	NC_000009.12:g.136447319_136447320insCATTCTACCTTCCGTCTCTACCATACA	ExAC
SEC16A	O15027	p.Gln2203Pro	rs566014350	missense variant	-	NC_000009.12:g.136447316T>G	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Arg2204Pro	rs746045861	missense variant	-	NC_000009.12:g.136447313C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2204Trp	rs1276158240	missense variant	-	NC_000009.12:g.136447314G>A	TOPMed
SEC16A	O15027	p.Arg2204Gln	rs746045861	missense variant	-	NC_000009.12:g.136447313C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser2205Ile	rs1216856225	missense variant	-	NC_000009.12:g.136447310C>A	gnomAD
SEC16A	O15027	p.Glu2206Lys	rs781275551	missense variant	-	NC_000009.12:g.136447308C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2207Ser	COSM1489808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136447305G>A	NCI-TCGA Cosmic
SEC16A	O15027	p.Pro2207Leu	rs992351347	missense variant	-	NC_000009.12:g.136447304G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala2208Ser	rs1331247583	missense variant	-	NC_000009.12:g.136447302C>A	gnomAD
SEC16A	O15027	p.Leu2209Val	rs960485796	missense variant	-	NC_000009.12:g.136447299G>C	TOPMed,gnomAD
SEC16A	O15027	p.Ala2210Thr	rs554187066	missense variant	-	NC_000009.12:g.136447296C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2211Ser	rs1481707790	missense variant	-	NC_000009.12:g.136447293G>A	gnomAD
SEC16A	O15027	p.Ala2212Val	rs778158049	missense variant	-	NC_000009.12:g.136447289G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp2213Tyr	rs1426098945	missense variant	-	NC_000009.12:g.136447287C>A	TOPMed
SEC16A	O15027	p.Asp2213Glu	rs758871413	missense variant	-	NC_000009.12:g.136447285G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asp2213Glu	rs758871413	missense variant	-	NC_000009.12:g.136447285G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Phe2214Leu	rs1368221625	missense variant	-	NC_000009.12:g.136447282A>C	TOPMed
SEC16A	O15027	p.Val2215Ile	rs1234293141	missense variant	-	NC_000009.12:g.136447281C>T	gnomAD
SEC16A	O15027	p.Ala2216Thr	rs535521645	missense variant	-	NC_000009.12:g.136447278C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2216Pro	rs535521645	missense variant	-	NC_000009.12:g.136447278C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2217Ser	rs370881814	missense variant	-	NC_000009.12:g.136447275G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2219Thr	rs375952382	missense variant	-	NC_000009.12:g.136447269C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2219Gly	rs765940476	missense variant	-	NC_000009.12:g.136447268G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2219Glu	rs765940476	missense variant	-	NC_000009.12:g.136447268G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2219Val	rs765940476	missense variant	-	NC_000009.12:g.136447268G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2220Thr	rs760427469	missense variant	-	NC_000009.12:g.136447266G>T	ExAC,gnomAD
SEC16A	O15027	p.Leu2221Phe	rs1319700472	missense variant	-	NC_000009.12:g.136447263G>A	TOPMed
SEC16A	O15027	p.Pro2222Leu	rs1443370030	missense variant	-	NC_000009.12:g.136447259G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ile2223Val	rs118049182	missense variant	-	NC_000009.12:g.136447257T>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ile2223Phe	rs118049182	missense variant	-	NC_000009.12:g.136447257T>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2224Leu	rs1352567437	missense variant	-	NC_000009.12:g.136447253G>A	TOPMed
SEC16A	O15027	p.Asn2226Lys	rs1018940225	missense variant	-	NC_000009.12:g.136447246G>C	TOPMed,gnomAD
SEC16A	O15027	p.Asn2226Asp	rs201162968	missense variant	-	NC_000009.12:g.136447248T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Phe2228Leu	rs761797624	missense variant	-	NC_000009.12:g.136447242A>G	ExAC,gnomAD
SEC16A	O15027	p.Val2229Met	rs531904062	missense variant	-	NC_000009.12:g.136447239C>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Val2229Leu	rs531904062	missense variant	-	NC_000009.12:g.136447239C>G	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Thr2231Ile	rs1438703759	missense variant	-	NC_000009.12:g.136447232G>A	gnomAD
SEC16A	O15027	p.Pro2232Ser	rs1236075751	missense variant	-	NC_000009.12:g.136447230G>A	gnomAD
SEC16A	O15027	p.Asp2233Gly	rs1330204930	missense variant	-	NC_000009.12:g.136446949T>C	gnomAD
SEC16A	O15027	p.Asp2233Glu	rs774542326	missense variant	-	NC_000009.12:g.136446948A>T	ExAC,gnomAD
SEC16A	O15027	p.Ala2234Gly	rs1463376044	missense variant	-	NC_000009.12:g.136446946G>C	gnomAD
SEC16A	O15027	p.Glu2235Lys	rs374136015	missense variant	-	NC_000009.12:g.136446944C>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2237Ala	rs369714442	missense variant	-	NC_000009.12:g.136446938G>C	ESP,ExAC,TOPMed
SEC16A	O15027	p.Gly2242Arg	rs557969470	missense variant	-	NC_000009.12:g.136446923C>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Arg2245Lys	rs1020406057	missense variant	-	NC_000009.12:g.136446913C>T	TOPMed,gnomAD
SEC16A	O15027	p.Glu2246Gly	rs1201716760	missense variant	-	NC_000009.12:g.136446910T>C	gnomAD
SEC16A	O15027	p.Gly2247Glu	rs546048494	missense variant	-	NC_000009.12:g.136446907C>T	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2247Arg	rs745358501	missense variant	-	NC_000009.12:g.136446908C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2247Ala	rs546048494	missense variant	-	NC_000009.12:g.136446907C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2248Leu	rs1267107853	missense variant	-	NC_000009.12:g.136446904G>A	TOPMed
SEC16A	O15027	p.Ala2249Thr	rs751253581	missense variant	-	NC_000009.12:g.136446902C>T	ExAC,gnomAD
SEC16A	O15027	p.Ala2249Val	rs572245522	missense variant	-	NC_000009.12:g.136446901G>A	TOPMed,gnomAD
SEC16A	O15027	p.Ala2250Val	rs758225467	missense variant	-	NC_000009.12:g.136446898G>A	ExAC,gnomAD
SEC16A	O15027	p.Ala2250Pro	rs777383094	missense variant	-	NC_000009.12:g.136446899C>G	ExAC,gnomAD
SEC16A	O15027	p.Arg2252Gly	rs752506014	missense variant	-	NC_000009.12:g.136446893T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2253Ala	rs896059806	missense variant	-	NC_000009.12:g.136446889C>G	TOPMed,gnomAD
SEC16A	O15027	p.Gly2253Asp	rs896059806	missense variant	-	NC_000009.12:g.136446889C>T	TOPMed,gnomAD
SEC16A	O15027	p.Gly2253Val	rs896059806	missense variant	-	NC_000009.12:g.136446889C>A	TOPMed,gnomAD
SEC16A	O15027	p.Gly2253Ser	rs1316610543	missense variant	-	NC_000009.12:g.136446890C>T	gnomAD
SEC16A	O15027	p.Ala2255Gly	rs1233388908	missense variant	-	NC_000009.12:g.136446883G>C	gnomAD
SEC16A	O15027	p.Asn2256Ser	rs1330125382	missense variant	-	NC_000009.12:g.136446880T>C	gnomAD
SEC16A	O15027	p.Pro2257Ser	rs1298810969	missense variant	-	NC_000009.12:g.136446878G>A	gnomAD
SEC16A	O15027	p.Glu2258Gly	rs765212299	missense variant	-	NC_000009.12:g.136446874T>C	ExAC,gnomAD
SEC16A	O15027	p.Pro2259Ser	rs750476360	missense variant	-	NC_000009.12:g.136446872G>A	ExAC,gnomAD
SEC16A	O15027	p.Glu2262Ala	rs767618995	missense variant	-	NC_000009.12:g.136446862T>G	ExAC,gnomAD
SEC16A	O15027	p.Lys2264Arg	rs908264944	missense variant	-	NC_000009.12:g.136446856T>C	TOPMed,gnomAD
SEC16A	O15027	p.Ser2267Asn	rs752520419	missense variant	-	NC_000009.12:g.136445712C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser2268Pro	rs948780105	missense variant	-	NC_000009.12:g.136445710A>G	TOPMed,gnomAD
SEC16A	O15027	p.Ala2269Val	rs199987574	missense variant	-	NC_000009.12:g.136445706G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2269Glu	rs199987574	missense variant	-	NC_000009.12:g.136445706G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2270Glu	rs200253490	missense variant	-	NC_000009.12:g.136445703G>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2270Val	rs200253490	missense variant	-	NC_000009.12:g.136445703G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2270Gly	rs200253490	missense variant	-	NC_000009.12:g.136445703G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu2272Val	rs375748300	missense variant	-	NC_000009.12:g.136445698G>C	ESP,ExAC,gnomAD
SEC16A	O15027	p.Gly2274Ala	rs1442361178	missense variant	-	NC_000009.12:g.136445691C>G	gnomAD
SEC16A	O15027	p.Pro2278Ser	rs761962148	missense variant	-	NC_000009.12:g.136445680G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser2280Cys	rs751661008	missense variant	-	NC_000009.12:g.136445673G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser2280Pro	rs1206405766	missense variant	-	NC_000009.12:g.136445674A>G	gnomAD
SEC16A	O15027	p.Ser2280Phe	rs751661008	missense variant	-	NC_000009.12:g.136445673G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2281Lys	rs1284934982	missense variant	-	NC_000009.12:g.136445670C>T	gnomAD
SEC16A	O15027	p.Pro2282Leu	rs1237673696	missense variant	-	NC_000009.12:g.136445667G>A	gnomAD
SEC16A	O15027	p.Glu2283Ala	rs1429420979	missense variant	-	NC_000009.12:g.136445664T>G	TOPMed
SEC16A	O15027	p.Glu2289Lys	rs1284575296	missense variant	-	NC_000009.12:g.136445647C>T	gnomAD
SEC16A	O15027	p.Ser2291Leu	rs376539781	missense variant	-	NC_000009.12:g.136445107G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser2291Pro	rs1197888170	missense variant	-	NC_000009.12:g.136445108A>G	gnomAD
SEC16A	O15027	p.Arg2292Cys	rs529911977	missense variant	-	NC_000009.12:g.136445105G>A	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2292His	rs562597563	missense variant	-	NC_000009.12:g.136445104C>T	1000Genomes,ExAC,gnomAD
SEC16A	O15027	p.Arg2292Gly	rs529911977	missense variant	-	NC_000009.12:g.136445105G>C	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Cys2293Tyr	rs1470255345	missense variant	-	NC_000009.12:g.136445101C>T	TOPMed
SEC16A	O15027	p.Ser2294Gly	rs764122148	missense variant	-	NC_000009.12:g.136445099T>C	ExAC,gnomAD
SEC16A	O15027	p.Met2296Val	rs1369977312	missense variant	-	NC_000009.12:g.136445093T>C	gnomAD
SEC16A	O15027	p.Met2296Thr	rs887314199	missense variant	-	NC_000009.12:g.136445092A>G	TOPMed
SEC16A	O15027	p.Ser2297Asn	rs1275726633	missense variant	-	NC_000009.12:g.136445089C>T	gnomAD
SEC16A	O15027	p.Leu2299Ser	rs758608679	missense variant	-	NC_000009.12:g.136445083A>G	ExAC,gnomAD
SEC16A	O15027	p.Ser2300Pro	rs752987885	missense variant	-	NC_000009.12:g.136445081A>G	ExAC,gnomAD
SEC16A	O15027	p.Arg2301His	rs924895336	missense variant	-	NC_000009.12:g.136445077C>T	TOPMed,gnomAD
SEC16A	O15027	p.Arg2301Cys	rs370453872	missense variant	-	NC_000009.12:g.136445078G>A	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2301Gly	rs370453872	missense variant	-	NC_000009.12:g.136445078G>C	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Val2303Ala	rs777202089	missense variant	-	NC_000009.12:g.136445071A>G	ExAC,gnomAD
SEC16A	O15027	p.Ser2304Thr	rs1425423905	missense variant	-	NC_000009.12:g.136445068C>G	TOPMed,gnomAD
SEC16A	O15027	p.Ser2304Cys	rs1415737578	missense variant	-	NC_000009.12:g.136445069T>A	TOPMed,gnomAD
SEC16A	O15027	p.Gln2305Arg	rs766975699	missense variant	-	NC_000009.12:g.136445065T>C	ExAC,gnomAD
SEC16A	O15027	p.His2306Tyr	rs1476844302	missense variant	-	NC_000009.12:g.136445063G>A	gnomAD
SEC16A	O15027	p.Ala2310Thr	rs571167877	missense variant	-	NC_000009.12:g.136443900C>T	1000Genomes,TOPMed
SEC16A	O15027	p.Ala2310Pro	rs571167877	missense variant	-	NC_000009.12:g.136443900C>G	1000Genomes,TOPMed
SEC16A	O15027	p.Asp2313Glu	rs1365684335	missense variant	-	NC_000009.12:g.136443889G>T	gnomAD
SEC16A	O15027	p.Asp2313Asn	rs754228569	missense variant	-	NC_000009.12:g.136443891C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Leu2314Phe	rs766691512	missense variant	-	NC_000009.12:g.136443888G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Pro2315Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136443885G>A	NCI-TCGA
SEC16A	O15027	p.Ala2316Val	rs922515710	missense variant	-	NC_000009.12:g.136443881G>A	TOPMed
SEC16A	O15027	p.Gly2318Glu	rs761202040	missense variant	-	NC_000009.12:g.136443875C>T	ExAC,gnomAD
SEC16A	O15027	p.Gly2319Asp	rs750910008	missense variant	-	NC_000009.12:g.136443872C>T	ExAC,gnomAD
SEC16A	O15027	p.Ser2322Arg	rs761311945	missense variant	-	NC_000009.12:g.136443862G>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2323Arg	rs569502099	missense variant	-	NC_000009.12:g.136443861C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2324Ser	rs762635733	missense variant	-	NC_000009.12:g.136443858C>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2324Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136443857G>A	NCI-TCGA
SEC16A	O15027	p.Met2325Ile	rs775226127	missense variant	-	NC_000009.12:g.136443853C>G	ExAC,gnomAD
SEC16A	O15027	p.Pro2326Ser	rs1488098500	missense variant	-	NC_000009.12:g.136443852G>A	gnomAD
SEC16A	O15027	p.Pro2326Leu	rs769501446	missense variant	-	NC_000009.12:g.136443851G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Asn2329Ser	rs1252480283	missense variant	-	NC_000009.12:g.136443842T>C	TOPMed
SEC16A	O15027	p.Pro2330Leu	rs770967716	missense variant	-	NC_000009.12:g.136443839G>A	ExAC,gnomAD
SEC16A	O15027	p.Pro2330Ser	rs369325234	missense variant	-	NC_000009.12:g.136443840G>A	ESP,ExAC,gnomAD
SEC16A	O15027	p.Ala2331Val	rs1341764655	missense variant	-	NC_000009.12:g.136443836G>A	gnomAD
SEC16A	O15027	p.Gln2332Ter	rs748224873	stop gained	-	NC_000009.12:g.136443834G>A	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ala2334Ser	rs1366545199	missense variant	-	NC_000009.12:g.136443828C>A	TOPMed
SEC16A	O15027	p.Ala2334Gly	rs1427063883	missense variant	-	NC_000009.12:g.136443827G>C	TOPMed
SEC16A	O15027	p.Ala2338Thr	rs372004342	missense variant	-	NC_000009.12:g.136441817C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Thr2339Asn	rs367997914	missense variant	-	NC_000009.12:g.136441813G>T	ESP,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2341Arg	rs750736045	missense variant	-	NC_000009.12:g.136441808C>G	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2341Arg	rs750736045	missense variant	-	NC_000009.12:g.136441808C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ser2342Asn	rs748340621	missense variant	-	NC_000009.12:g.136441804C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2344Gly	rs757722917	missense variant	-	NC_000009.12:g.136441799T>C	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Arg2344Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136441797C>G	NCI-TCGA
SEC16A	O15027	p.Arg2344Ser	rs926545013	missense variant	-	NC_000009.12:g.136441797C>A	TOPMed
SEC16A	O15027	p.Gly2346Glu	rs763538447	missense variant	-	NC_000009.12:g.136441792C>T	ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Gly2346Arg	rs752083953	missense variant	-	NC_000009.12:g.136441793C>G	ExAC,gnomAD
SEC16A	O15027	p.Arg2347Ser	rs569995127	missense variant	-	NC_000009.12:g.136441788C>G	1000Genomes,ExAC,TOPMed,gnomAD
SEC16A	O15027	p.Ile2348Thr	rs1394753737	missense variant	-	NC_000009.12:g.136441786A>G	TOPMed,gnomAD
SEC16A	O15027	p.Ile2348Ser	rs1394753737	missense variant	-	NC_000009.12:g.136441786A>C	TOPMed,gnomAD
SEC16A	O15027	p.Gly2349Asp	rs1172140684	missense variant	-	NC_000009.12:g.136441783C>T	gnomAD
SEC16A	O15027	p.Lys2352Asn	rs1441996244	missense variant	-	NC_000009.12:g.136441773C>A	gnomAD
SEC16A	O15027	p.Val2355Leu	rs759281401	missense variant	-	NC_000009.12:g.136441766C>G	ExAC,gnomAD
SEC16A	O15027	p.Asn2357Lys	rs370241554	missense variant	-	NC_000009.12:g.136441758G>C	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ser2Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114683195G>T	NCI-TCGA
TBX3	O15119	p.Ser4Phe	rs749690877	missense variant	-	NC_000012.12:g.114683190G>A	ExAC,gnomAD
TBX3	O15119	p.Ser4Pro	rs771057510	missense variant	-	NC_000012.12:g.114683191A>G	ExAC,gnomAD
TBX3	O15119	p.Met5Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114683186C>T	NCI-TCGA
TBX3	O15119	p.Met5Leu	rs778445850	missense variant	-	NC_000012.12:g.114683188T>G	ExAC,gnomAD
TBX3	O15119	p.Arg6Gly	rs1475498518	missense variant	-	NC_000012.12:g.114683185T>C	TOPMed,gnomAD
TBX3	O15119	p.Pro8Thr	rs770471600	missense variant	-	NC_000012.12:g.114683179G>T	ExAC,gnomAD
TBX3	O15119	p.Val9Ile	rs748492156	missense variant	-	NC_000012.12:g.114683176C>T	ExAC,gnomAD
TBX3	O15119	p.Val9Leu	rs748492156	missense variant	-	NC_000012.12:g.114683176C>G	ExAC,gnomAD
TBX3	O15119	p.Pro11Thr	rs781731495	missense variant	-	NC_000012.12:g.114683170G>T	ExAC,gnomAD
TBX3	O15119	p.Thr13Arg	rs1197831255	missense variant	-	NC_000012.12:g.114683163G>C	gnomAD
TBX3	O15119	p.Met15Thr	rs757971486	missense variant	-	NC_000012.12:g.114683157A>G	ExAC,gnomAD
TBX3	O15119	p.Ala16Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114683155C>T	NCI-TCGA
TBX3	O15119	p.Ala16Asp	rs750101328	missense variant	-	NC_000012.12:g.114683154G>T	ExAC,gnomAD
TBX3	O15119	p.His18Arg	rs778215802	missense variant	-	NC_000012.12:g.114683148T>C	ExAC,gnomAD
TBX3	O15119	p.His23Gln	rs753730951	missense variant	-	NC_000012.12:g.114683132G>T	ExAC,gnomAD
TBX3	O15119	p.Arg24Pro	rs1414698447	missense variant	-	NC_000012.12:g.114683130C>G	gnomAD
TBX3	O15119	p.Pro26Ser	rs763999960	missense variant	-	NC_000012.12:g.114683125G>A	ExAC,gnomAD
TBX3	O15119	p.Asp27Tyr	COSM72930	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114683122C>A	NCI-TCGA Cosmic
TBX3	O15119	p.Met30Val	rs1393790676	missense variant	-	NC_000012.12:g.114683113T>C	TOPMed,gnomAD
TBX3	O15119	p.Ser31Thr	rs760649529	missense variant	-	NC_000012.12:g.114683109C>G	ExAC,gnomAD
TBX3	O15119	p.Ala32Val	rs1029030166	missense variant	-	NC_000012.12:g.114683106G>A	gnomAD
TBX3	O15119	p.Ala32Ser	rs1410475056	missense variant	-	NC_000012.12:g.114683107C>A	gnomAD
TBX3	O15119	p.Val33Leu	rs147270297	missense variant	-	NC_000012.12:g.114683104C>A	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro38Thr	rs770877136	missense variant	-	NC_000012.12:g.114683089G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro39Leu	rs1436293096	missense variant	-	NC_000012.12:g.114683085G>A	TOPMed,gnomAD
TBX3	O15119	p.Phe41Ser	rs1214536516	missense variant	-	NC_000012.12:g.114683079A>G	gnomAD
TBX3	O15119	p.Phe41Leu	rs773465438	missense variant	-	NC_000012.12:g.114683080A>G	ExAC,gnomAD
TBX3	O15119	p.Pro42Ser	rs1337484837	missense variant	-	NC_000012.12:g.114683077G>A	TOPMed,gnomAD
TBX3	O15119	p.Pro42Ala	rs1337484837	missense variant	-	NC_000012.12:g.114683077G>C	TOPMed,gnomAD
TBX3	O15119	p.Ala43Thr	rs978439271	missense variant	-	NC_000012.12:g.114683074C>T	TOPMed,gnomAD
TBX3	O15119	p.Ala43Val	rs555062169	missense variant	-	NC_000012.12:g.114683073G>A	1000Genomes,ExAC,gnomAD
TBX3	O15119	p.Thr45Met	rs781639524	missense variant	-	NC_000012.12:g.114683067G>A	ExAC,gnomAD
TBX3	O15119	p.Pro47LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114683039_114683061GAGCGCCGCCGCGCCGTTGGGAG>-	NCI-TCGA
TBX3	O15119	p.Pro47Arg	rs769065791	missense variant	-	NC_000012.12:g.114683061G>C	ExAC,gnomAD
TBX3	O15119	p.Pro48Ala	rs536946655	missense variant	-	NC_000012.12:g.114683059G>C	1000Genomes,ExAC,gnomAD
TBX3	O15119	p.Asn49Ser	rs1168678629	missense variant	-	NC_000012.12:g.114683055T>C	TOPMed
TBX3	O15119	p.Ala51Thr	RCV000703697	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114683050C>T	ClinVar
TBX3	O15119	p.Ala52Val	rs1327851574	missense variant	-	NC_000012.12:g.114683046G>A	gnomAD
TBX3	O15119	p.Leu60Met	rs756033342	missense variant	-	NC_000012.12:g.114683023G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala61Val	rs1369545046	missense variant	-	NC_000012.12:g.114683019G>A	TOPMed
TBX3	O15119	p.Ile64Thr	rs759407815	missense variant	-	NC_000012.12:g.114683010A>G	ExAC,gnomAD
TBX3	O15119	p.Met65Lys	rs766592107	missense variant	-	NC_000012.12:g.114683007A>T	ExAC,gnomAD
TBX3	O15119	p.Met65Thr	rs766592107	missense variant	-	NC_000012.12:g.114683007A>G	ExAC,gnomAD
TBX3	O15119	p.Met65Ile	rs1194543955	missense variant	-	NC_000012.12:g.114683006C>T	gnomAD
TBX3	O15119	p.Asp66Asn	rs1469975580	missense variant	-	NC_000012.12:g.114683005C>T	TOPMed,gnomAD
TBX3	O15119	p.Leu68PhePheSerTerUnkUnk	COSM5226333	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114682997_114682998insA	NCI-TCGA Cosmic
TBX3	O15119	p.Gly70Trp	rs1006993913	missense variant	-	NC_000012.12:g.114682993C>A	TOPMed,gnomAD
TBX3	O15119	p.Gly70Arg	rs1006993913	missense variant	-	NC_000012.12:g.114682993C>G	TOPMed,gnomAD
TBX3	O15119	p.Ala71Thr	rs1012420316	missense variant	-	NC_000012.12:g.114682990C>T	TOPMed
TBX3	O15119	p.Ala71Ser	rs1012420316	missense variant	-	NC_000012.12:g.114682990C>A	TOPMed
TBX3	O15119	p.Glu73Lys	rs1266535166	missense variant	-	NC_000012.12:g.114682984C>T	TOPMed
TBX3	O15119	p.Gly75Ser	rs895278286	missense variant	-	NC_000012.12:g.114682978C>T	TOPMed,gnomAD
TBX3	O15119	p.Gly75Asp	rs866573295	missense variant	-	NC_000012.12:g.114682977C>T	gnomAD
TBX3	O15119	p.Gly75Arg	rs895278286	missense variant	-	NC_000012.12:g.114682978C>G	TOPMed,gnomAD
TBX3	O15119	p.Pro77Arg	rs770004469	missense variant	-	NC_000012.12:g.114682971G>C	ExAC,gnomAD
TBX3	O15119	p.Ser80Ala	rs1372676946	missense variant	-	NC_000012.12:g.114682963A>C	gnomAD
TBX3	O15119	p.Gly82Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682957C>T	NCI-TCGA
TBX3	O15119	p.Pro83Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682954G>A	NCI-TCGA
TBX3	O15119	p.Pro83Leu	rs548028432	missense variant	-	NC_000012.12:g.114682953G>A	1000Genomes,ExAC,gnomAD
TBX3	O15119	p.Gln84ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114682955C>-	NCI-TCGA
TBX3	O15119	p.Ala85Glu	rs777208877	missense variant	-	NC_000012.12:g.114682947G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala85Gly	rs777208877	missense variant	-	NC_000012.12:g.114682947G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala85Val	rs777208877	missense variant	-	NC_000012.12:g.114682947G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.His86Tyr	rs1174286681	missense variant	-	NC_000012.12:g.114682945G>A	gnomAD
TBX3	O15119	p.Arg88Ser	rs1460980304	missense variant	-	NC_000012.12:g.114682937C>G	TOPMed
TBX3	O15119	p.Arg88Lys	rs886049011	missense variant	-	NC_000012.12:g.114682938C>T	gnomAD
TBX3	O15119	p.Arg88Lys	RCV000301845	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114682938C>T	ClinVar
TBX3	O15119	p.Lys91Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682929T>G	NCI-TCGA
TBX3	O15119	p.Lys91Glu	rs755627893	missense variant	-	NC_000012.12:g.114682930T>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Lys91Arg	rs374642197	missense variant	-	NC_000012.12:g.114682929T>C	ESP,ExAC,gnomAD
TBX3	O15119	p.Glu94Gly	rs781212726	missense variant	-	NC_000012.12:g.114682920T>C	ExAC,gnomAD
TBX3	O15119	p.Pro95Ser	rs143885412	missense variant	-	NC_000012.12:g.114682918G>A	ESP,ExAC,gnomAD
TBX3	O15119	p.Pro95Ala	rs143885412	missense variant	-	NC_000012.12:g.114682918G>C	ESP,ExAC,gnomAD
TBX3	O15119	p.Glu96Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682914T>A	NCI-TCGA
TBX3	O15119	p.Glu97Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.114682912C>A	NCI-TCGA
TBX3	O15119	p.Glu97Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682910T>G	NCI-TCGA
TBX3	O15119	p.Glu98Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.114682909C>A	NCI-TCGA
TBX3	O15119	p.Val99Ala	rs1446884338	missense variant	-	NC_000012.12:g.114682905A>G	gnomAD
TBX3	O15119	p.Glu100Gly	rs1451400457	missense variant	-	NC_000012.12:g.114682902T>C	TOPMed
TBX3	O15119	p.Asp101Glu	rs138271676	missense variant	-	NC_000012.12:g.114682898G>T	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Asp102Asn	rs750675578	missense variant	-	NC_000012.12:g.114682897C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro103His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682893G>T	NCI-TCGA
TBX3	O15119	p.Pro103Ser	rs1042037489	missense variant	-	NC_000012.12:g.114682894G>A	TOPMed
TBX3	O15119	p.Pro103Thr	COSM6071317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114682894G>T	NCI-TCGA Cosmic
TBX3	O15119	p.Lys104ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114682892_114682893insGACC	NCI-TCGA
TBX3	O15119	p.Lys104Thr	rs150806908	missense variant	-	NC_000012.12:g.114682890T>G	ESP,TOPMed
TBX3	O15119	p.Lys104Arg	rs150806908	missense variant	-	NC_000012.12:g.114682890T>C	ESP,TOPMed
TBX3	O15119	p.Val105Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682887A>G	NCI-TCGA
TBX3	O15119	p.His106Gln	rs1314068240	missense variant	-	NC_000012.12:g.114682883G>T	TOPMed
TBX3	O15119	p.His106Tyr	rs776626691	missense variant	-	NC_000012.12:g.114682885G>A	ExAC,gnomAD
TBX3	O15119	p.Leu107Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682882G>T	NCI-TCGA
TBX3	O15119	p.Ala109Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682876C>A	NCI-TCGA
TBX3	O15119	p.Ala109Val	COSM1298959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114682875G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Lys110Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.114682873T>A	NCI-TCGA
TBX3	O15119	p.Glu111Ter	COSM1359061	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114682870C>A	NCI-TCGA Cosmic
TBX3	O15119	p.Leu112Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682866A>C	NCI-TCGA
TBX3	O15119	p.Leu112Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682867G>C	NCI-TCGA
TBX3	O15119	p.Trp113Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682864A>C	NCI-TCGA
TBX3	O15119	p.Trp113Arg	COSM1476165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114682864A>G	NCI-TCGA Cosmic
TBX3	O15119	p.Trp113Ter	COSM4039069	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114682862C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Asp114His	rs772441761	missense variant	-	NC_000012.12:g.114682861C>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Asp114Asn	rs772441761	missense variant	-	NC_000012.12:g.114682861C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gln115Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.114682858G>A	NCI-TCGA
TBX3	O15119	p.Gln115Arg	COSM4039068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114682857T>C	NCI-TCGA Cosmic
TBX3	O15119	p.Lys118Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114682848T>C	NCI-TCGA
TBX3	O15119	p.Gly120Cys	rs985381779	missense variant	-	NC_000012.12:g.114682843C>A	gnomAD
TBX3	O15119	p.Gly120Ala	rs1373707233	missense variant	-	NC_000012.12:g.114682842C>G	gnomAD
TBX3	O15119	p.Gly120Val	COSM691937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114682842C>A	NCI-TCGA Cosmic
TBX3	O15119	p.Glu122Lys	COSM3456535	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114682837C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Val124Phe	RCV000623643	missense variant	Inborn genetic diseases	NC_000012.12:g.114682831C>A	ClinVar
TBX3	O15119	p.Val124Ile	rs927204453	missense variant	-	NC_000012.12:g.114682831C>T	TOPMed
TBX3	O15119	p.Val124Phe	rs927204453	missense variant	-	NC_000012.12:g.114682831C>A	TOPMed
TBX3	O15119	p.Arg131Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114681144C>T	NCI-TCGA
TBX3	O15119	p.Arg131Gly	rs1201988110	missense variant	-	NC_000012.12:g.114681145G>C	gnomAD
TBX3	O15119	p.Met132Val	rs370785408	missense variant	-	NC_000012.12:g.114681142T>C	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro134LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114681137A>-	NCI-TCGA
TBX3	O15119	p.Pro134Ser	COSM5196199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114681136G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Pro135Ser	rs267603321	missense variant	-	NC_000012.12:g.114681133G>A	gnomAD
TBX3	O15119	p.Phe136Leu	rs774747599	missense variant	-	NC_000012.12:g.114681130A>G	ExAC
TBX3	O15119	p.Lys137Ter	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114681127_114681128insA	NCI-TCGA
TBX3	O15119	p.Leu143Met	rs1206189010	missense variant	-	NC_000012.12:g.114681109G>T	TOPMed
TBX3	O15119	p.Leu143Pro	VAR_009601	Missense	Ulnar-mammary syndrome (UMS) [MIM:181450]	-	UniProt
TBX3	O15119	p.Asp144Glu	rs769431199	missense variant	-	NC_000012.12:g.114681104A>T	ExAC,gnomAD
TBX3	O15119	p.Lys145Arg	rs1256655578	missense variant	-	NC_000012.12:g.114681102T>C	TOPMed
TBX3	O15119	p.Ala147ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114681098T>-	NCI-TCGA
TBX3	O15119	p.Ala147Val	rs1312105333	missense variant	-	NC_000012.12:g.114681096G>A	gnomAD
TBX3	O15119	p.Ala147SerPheSerTerUnkUnk	COSM1359060	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114681097_114681098insT	NCI-TCGA Cosmic
TBX3	O15119	p.Lys148Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114681092T>A	NCI-TCGA
TBX3	O15119	p.Tyr149Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.114681089_114681090insT	NCI-TCGA
TBX3	O15119	p.Tyr149Ser	VAR_009602	Missense	Ulnar-mammary syndrome (UMS) [MIM:181450]	-	UniProt
TBX3	O15119	p.Ile150Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114681087A>C	NCI-TCGA
TBX3	O15119	p.Leu151TyrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114681084A>-	NCI-TCGA
TBX3	O15119	p.Asp154Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114681075T>C	NCI-TCGA
TBX3	O15119	p.Asp154Tyr	COSM6135711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114681076C>A	NCI-TCGA Cosmic
TBX3	O15119	p.Ile155Val	rs1296731331	missense variant	-	NC_000012.12:g.114681073T>C	TOPMed,gnomAD
TBX3	O15119	p.Ile156Thr	rs1285766986	missense variant	-	NC_000012.12:g.114681069A>G	gnomAD
TBX3	O15119	p.Ile156Val	rs761429570	missense variant	-	NC_000012.12:g.114681070T>C	ExAC,gnomAD
TBX3	O15119	p.Asp159Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114681059A>C	NCI-TCGA
TBX3	O15119	p.Asp159His	COSM1298958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114681061C>G	NCI-TCGA Cosmic
TBX3	O15119	p.Asp160GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114681057_114681058insC	NCI-TCGA
TBX3	O15119	p.Asp160ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114681058_114681059insT	NCI-TCGA
TBX3	O15119	p.Lys164SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114681042_114681046AATTT>-	NCI-TCGA
TBX3	O15119	p.Phe165Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114681043A>T	NCI-TCGA
TBX3	O15119	p.Arg169Trp	rs1430142395	missense variant	-	NC_000012.12:g.114681031G>A	TOPMed
TBX3	O15119	p.Arg169Leu	rs772182165	missense variant	-	NC_000012.12:g.114681030C>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg169Gln	rs772182165	missense variant	-	NC_000012.12:g.114681030C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Trp170ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114681028_114681029insC	NCI-TCGA
TBX3	O15119	p.Met171Leu	rs905399897	missense variant	-	NC_000012.12:g.114681025T>G	TOPMed,gnomAD
TBX3	O15119	p.Val172Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114681022C>A	NCI-TCGA
TBX3	O15119	p.Val172Met	rs745631586	missense variant	-	NC_000012.12:g.114681022C>T	ExAC,gnomAD
TBX3	O15119	p.Ala173Thr	rs1299722140	missense variant	-	NC_000012.12:g.114681019C>T	TOPMed
TBX3	O15119	p.Glu179Lys	rs754023417	missense variant	-	NC_000012.12:g.114681001C>T	ExAC,gnomAD
TBX3	O15119	p.Pro181Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114680995G>A	NCI-TCGA
TBX3	O15119	p.Lys182Glu	rs945423833	missense variant	-	NC_000012.12:g.114680992T>C	gnomAD
TBX3	O15119	p.Met184Lys	rs1467097106	missense variant	-	NC_000012.12:g.114680985A>T	gnomAD
TBX3	O15119	p.Met184GlyPheSerTerUnkUnk	COSM5831984	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114680987_114680988insCT	NCI-TCGA Cosmic
TBX3	O15119	p.Ile186Val	rs753199262	missense variant	-	NC_000012.12:g.114680980T>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.His187Gln	rs760101710	missense variant	-	NC_000012.12:g.114680975G>C	ExAC,gnomAD
TBX3	O15119	p.His187Tyr	COSM430420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114680977G>A	NCI-TCGA Cosmic
TBX3	O15119	p.His187Asn	rs767991404	missense variant	-	NC_000012.12:g.114680977G>T	ExAC,gnomAD
TBX3	O15119	p.Pro188Leu	rs751907473	missense variant	-	NC_000012.12:g.114680973G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro188Gln	rs751907473	missense variant	-	NC_000012.12:g.114680973G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Asp189Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114680970T>A	NCI-TCGA
TBX3	O15119	p.Ala192Thr	rs768160499	missense variant	-	NC_000012.12:g.114680962C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala192Ser	COSM2173055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114680962C>A	NCI-TCGA Cosmic
TBX3	O15119	p.Thr193Pro	rs777588715	missense variant	-	NC_000012.12:g.114680959T>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Thr193Ala	rs777588715	missense variant	-	NC_000012.12:g.114680959T>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Glu195GlyPheSerTerUnkUnk	COSM5211609	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114680952_114680953insC	NCI-TCGA Cosmic
TBX3	O15119	p.Trp197Cys	rs1346480124	missense variant	-	NC_000012.12:g.114680945C>A	gnomAD
TBX3	O15119	p.Trp197Ter	COSM691939	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114680946C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Met198Thr	rs975627207	missense variant	-	NC_000012.12:g.114680943A>G	gnomAD
TBX3	O15119	p.Ser199Ala	rs1438542231	missense variant	-	NC_000012.12:g.114680941A>C	TOPMed,gnomAD
TBX3	O15119	p.Val201Ile	rs745862855	missense variant	-	NC_000012.12:g.114680935C>T	ExAC,gnomAD
TBX3	O15119	p.Val202Ile	rs370362658	missense variant	-	NC_000012.12:g.114680932C>T	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Phe204Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114680925A>G	NCI-TCGA
TBX3	O15119	p.Phe204Leu	rs1452419195	missense variant	-	NC_000012.12:g.114680924G>C	gnomAD
TBX3	O15119	p.His205Tyr	rs749487839	missense variant	-	NC_000012.12:g.114680923G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.His205Asn	COSM6135712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114680923G>T	NCI-TCGA Cosmic
TBX3	O15119	p.Leu207GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114680915_114680916CA>-	NCI-TCGA
TBX3	O15119	p.Thr210HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114680908_114680909insG	NCI-TCGA
TBX3	O15119	p.Asn211Thr	rs756408358	missense variant	-	NC_000012.12:g.114680904T>G	ExAC
TBX3	O15119	p.Asn211ThrPheSerTerUnkUnk	COSM430419	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114680906G>-	NCI-TCGA Cosmic
TBX3	O15119	p.Ser214Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114680896A>C	NCI-TCGA
TBX3	O15119	p.Asp215AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114680890_114680893TGTC>-	NCI-TCGA
TBX3	O15119	p.Asp215Asn	rs1172445314	missense variant	-	NC_000012.12:g.114680893C>T	TOPMed
TBX3	O15119	p.His217Arg	rs781306340	missense variant	-	NC_000012.12:g.114680886T>C	ExAC,gnomAD
TBX3	O15119	p.Phe219IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114680882_114680883insC	NCI-TCGA
TBX3	O15119	p.Thr220Ile	rs1415906300	missense variant	-	NC_000012.12:g.114679971G>A	TOPMed,gnomAD
TBX3	O15119	p.Ala222Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679966C>T	NCI-TCGA
TBX3	O15119	p.Phe223Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679962A>G	NCI-TCGA
TBX3	O15119	p.Pro224GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114679959G>-	NCI-TCGA
TBX3	O15119	p.Ser225Arg	rs1400959825	missense variant	-	NC_000012.12:g.114679957T>G	gnomAD
TBX3	O15119	p.Ser225Asn	rs780398425	missense variant	-	NC_000012.12:g.114679956C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala228Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679947G>T	NCI-TCGA
TBX3	O15119	p.Ala228Thr	rs765693432	missense variant	-	NC_000012.12:g.114679948C>T	ExAC,gnomAD
TBX3	O15119	p.Ala228Pro	rs765693432	missense variant	-	NC_000012.12:g.114679948C>G	ExAC,gnomAD
TBX3	O15119	p.Thr229Met	rs554364556	missense variant	-	NC_000012.12:g.114679944G>A	TOPMed,gnomAD
TBX3	O15119	p.Gly232Arg	COSM3456534	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114679936C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Gln239Arg	rs368990405	missense variant	-	NC_000012.12:g.114679914T>C	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gln239Leu	rs368990405	missense variant	-	NC_000012.12:g.114679914T>A	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Thr240Ser	rs1423508208	missense variant	-	NC_000012.12:g.114679651T>A	gnomAD
TBX3	O15119	p.Ile241Val	rs751111385	missense variant	-	NC_000012.12:g.114679648T>C	ExAC,gnomAD
TBX3	O15119	p.Tyr248Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.114679625_114679626insT	NCI-TCGA
TBX3	O15119	p.Tyr248Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679627A>T	NCI-TCGA
TBX3	O15119	p.Tyr248His	rs528696682	missense variant	-	NC_000012.12:g.114679627A>G	1000Genomes,ExAC,gnomAD
TBX3	O15119	p.Arg251Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679617C>A	NCI-TCGA
TBX3	O15119	p.Arg251Gln	rs151047347	missense variant	-	NC_000012.12:g.114679617C>T	TOPMed,gnomAD
TBX3	O15119	p.His253Tyr	COSM3456532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114679612G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Ile254Val	RCV000375533	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114679609T>C	ClinVar
TBX3	O15119	p.Ile254Val	rs117465019	missense variant	-	NC_000012.12:g.114679609T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ile254Thr	rs1441443517	missense variant	-	NC_000012.12:g.114679608A>G	gnomAD
TBX3	O15119	p.Arg256Lys	rs1372907987	missense variant	-	NC_000012.12:g.114679602C>T	gnomAD
TBX3	O15119	p.Ala257Asp	rs1176249608	missense variant	-	NC_000012.12:g.114679599G>T	TOPMed
TBX3	O15119	p.Ala257Thr	rs1321551828	missense variant	-	NC_000012.12:g.114679600C>T	gnomAD
TBX3	O15119	p.Asn258Lys	rs1408088799	missense variant	-	NC_000012.12:g.114679595A>T	TOPMed
TBX3	O15119	p.Asn258Ser	rs375420460	missense variant	-	NC_000012.12:g.114679596T>C	1000Genomes,ESP,ExAC,gnomAD
TBX3	O15119	p.Leu261Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679586C>G	NCI-TCGA
TBX3	O15119	p.Leu263Ile	rs1160330259	missense variant	-	NC_000012.12:g.114679582G>T	gnomAD
TBX3	O15119	p.Pro264Leu	rs1418098778	missense variant	-	NC_000012.12:g.114679578G>A	gnomAD
TBX3	O15119	p.Tyr265Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679575T>C	NCI-TCGA
TBX3	O15119	p.Tyr265Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679575T>A	NCI-TCGA
TBX3	O15119	p.Tyr265Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.114679573_114679574TA>-	NCI-TCGA
TBX3	O15119	p.Tyr265LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114679575T>-	NCI-TCGA
TBX3	O15119	p.Ser266ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114679573T>-	NCI-TCGA
TBX3	O15119	p.Phe268Leu	rs1245312800	missense variant	-	NC_000012.12:g.114679565A>C	gnomAD
TBX3	O15119	p.Arg269Trp	rs1198837775	missense variant	-	NC_000012.12:g.114679564G>A	gnomAD
TBX3	O15119	p.Arg269Gln	rs775378442	missense variant	-	NC_000012.12:g.114679563C>T	ExAC,gnomAD
TBX3	O15119	p.Tyr271Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.114679556G>T	NCI-TCGA
TBX3	O15119	p.Leu272Phe	rs746325292	missense variant	-	NC_000012.12:g.114679553C>A	ExAC,gnomAD
TBX3	O15119	p.Leu272Phe	rs746325292	missense variant	-	NC_000012.12:g.114679553C>G	ExAC,gnomAD
TBX3	O15119	p.Pro274Ser	rs779500081	missense variant	-	NC_000012.12:g.114679549G>A	ExAC,gnomAD
TBX3	O15119	p.Pro274Arg	COSM1359059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114679548G>C	NCI-TCGA Cosmic
TBX3	O15119	p.Glu275Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679545T>C	NCI-TCGA
TBX3	O15119	p.Glu275Lys	rs1234535767	missense variant	-	NC_000012.12:g.114679546C>T	TOPMed,gnomAD
TBX3	O15119	p.Ile279Val	rs1372981319	missense variant	-	NC_000012.12:g.114679534T>C	gnomAD
TBX3	O15119	p.Ala280Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679531C>T	NCI-TCGA
TBX3	O15119	p.Ala280Ser	COSM691941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114679531C>A	NCI-TCGA Cosmic
TBX3	O15119	p.Thr282Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679525T>G	NCI-TCGA
TBX3	O15119	p.Asp287His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679510C>G	NCI-TCGA
TBX3	O15119	p.Asp287Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114679509T>C	NCI-TCGA
TBX3	O15119	p.Asp287Glu	rs751228574	missense variant	-	NC_000012.12:g.114679508A>T	ExAC,gnomAD
TBX3	O15119	p.Lys288Met	rs370972949	missense variant	-	NC_000012.12:g.114679506T>A	ESP,ExAC,gnomAD
TBX3	O15119	p.Thr290AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114677652_114677653insT	NCI-TCGA
TBX3	O15119	p.Lys293Ter	RCV000008453	nonsense	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114677644T>A	ClinVar
TBX3	O15119	p.Lys293Ter	rs104894376	stop gained	Ulnar-mammary syndrome (ums)	NC_000012.12:g.114677644T>A	-
TBX3	O15119	p.Ile294Ter	COSM5228908	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114677641T>-	NCI-TCGA Cosmic
TBX3	O15119	p.Asp295His	COSM416030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114677638C>G	NCI-TCGA Cosmic
TBX3	O15119	p.Asn296LysPheSerTerUnkUnk	COSM1476163	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114677633_114677634insT	NCI-TCGA Cosmic
TBX3	O15119	p.Pro298Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114677628G>C	NCI-TCGA
TBX3	O15119	p.Arg304Gln	COSM1359058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114677610C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Arg310Ter	rs779733514	stop gained	-	NC_000012.12:g.114677593G>A	ExAC,gnomAD
TBX3	O15119	p.Arg311Lys	COSM3456531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114677589C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Arg314Ter	rs1422059701	stop gained	-	NC_000012.12:g.114677581T>A	gnomAD
TBX3	O15119	p.Arg314Lys	rs1169229764	missense variant	-	NC_000012.12:g.114677580C>T	gnomAD
TBX3	O15119	p.Gln316Glu	COSM72929	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114676466G>C	NCI-TCGA Cosmic
TBX3	O15119	p.Gln320Arg	rs1223634909	missense variant	-	NC_000012.12:g.114676453T>C	gnomAD
TBX3	O15119	p.Ser321Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114676450G>A	NCI-TCGA
TBX3	O15119	p.Met322Leu	rs374926979	missense variant	-	NC_000012.12:g.114676448T>A	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Met322Val	rs374926979	missense variant	-	NC_000012.12:g.114676448T>C	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Met322Ile	COSM691942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114676446C>A	NCI-TCGA Cosmic
TBX3	O15119	p.Asp326Ter	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114676436_114676437insA	NCI-TCGA
TBX3	O15119	p.Glu327AspPheSerTerUnkUnk	COSM5831982	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114676428_114676431TCTT>-	NCI-TCGA Cosmic
TBX3	O15119	p.Arg328Thr	rs752533066	missense variant	-	NC_000012.12:g.114676429C>G	ExAC,gnomAD
TBX3	O15119	p.His329Gln	rs767275234	missense variant	-	NC_000012.12:g.114676425G>C	ExAC,gnomAD
TBX3	O15119	p.His329Leu	rs1307544773	missense variant	-	NC_000012.12:g.114676426T>A	gnomAD
TBX3	O15119	p.Asn333LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114676413A>-	NCI-TCGA
TBX3	O15119	p.Thr335Ala	rs755172309	missense variant	-	NC_000012.12:g.114676409T>C	ExAC,gnomAD
TBX3	O15119	p.Ser336Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114676405G>T	NCI-TCGA
TBX3	O15119	p.Ser336Phe	rs1295841754	missense variant	-	NC_000012.12:g.114676405G>A	TOPMed,gnomAD
TBX3	O15119	p.Asp337Gly	COSM6135714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114676402T>C	NCI-TCGA Cosmic
TBX3	O15119	p.Glu338Lys	rs1456819388	missense variant	-	NC_000012.12:g.114676400C>T	gnomAD
TBX3	O15119	p.Ser339Thr	rs1163413752	missense variant	-	NC_000012.12:g.114676397A>T	gnomAD
TBX3	O15119	p.Ser340Phe	rs1396893876	missense variant	-	NC_000012.12:g.114676393G>A	TOPMed
TBX3	O15119	p.Ser341Asn	rs751859591	missense variant	-	NC_000012.12:g.114676390C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Glu342Lys	rs150489416	missense variant	-	NC_000012.12:g.114676388C>T	ESP,TOPMed
TBX3	O15119	p.Ala345Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114676378G>T	NCI-TCGA
TBX3	O15119	p.Phe346Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114676374G>C	NCI-TCGA
TBX3	O15119	p.Phe346Val	rs567843458	missense variant	-	NC_000012.12:g.114676376A>C	1000Genomes
TBX3	O15119	p.Phe346Tyr	rs1422491114	missense variant	-	NC_000012.12:g.114676375A>T	gnomAD
TBX3	O15119	p.Cys348Arg	rs369381057	missense variant	-	NC_000012.12:g.114676370A>G	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala350Thr	rs773465537	missense variant	-	NC_000012.12:g.114676364C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gln351Ter	RCV000024600	nonsense	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114676361G>A	ClinVar
TBX3	O15119	p.Gln351Ter	rs397514484	stop gained	Ulnar-mammary syndrome (ums)	NC_000012.12:g.114676361G>A	-
TBX3	O15119	p.Ser354Phe	COSM4844480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114676351G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Ala356Val	rs765766538	missense variant	-	NC_000012.12:g.114676345G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala357Thr	rs140580685	missense variant	-	NC_000012.12:g.114676343C>T	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala357Asp	rs768904703	missense variant	-	NC_000012.12:g.114676342G>T	ExAC,gnomAD
TBX3	O15119	p.Ala357Ser	COSM6071319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114676343C>A	NCI-TCGA Cosmic
TBX3	O15119	p.Thr359Asn	rs370684735	missense variant	-	NC_000012.12:g.114676336G>T	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Thr359Ser	rs370684735	missense variant	-	NC_000012.12:g.114676336G>C	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Val360Ile	rs748769415	missense variant	-	NC_000012.12:g.114676334C>T	ExAC,gnomAD
TBX3	O15119	p.Gly361Arg	rs10290	missense variant	-	NC_000012.12:g.114676331C>T	ExAC,gnomAD
TBX3	O15119	p.Thr362HisPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114676329C>-	NCI-TCGA
TBX3	O15119	p.Thr362Ile	rs377284522	missense variant	-	NC_000012.12:g.114676327G>A	ESP,TOPMed
TBX3	O15119	p.Ser363Leu	rs374337915	missense variant	-	NC_000012.12:g.114676324G>A	ESP,TOPMed
TBX3	O15119	p.Ser363Trp	COSM430415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114676324G>C	NCI-TCGA Cosmic
TBX3	O15119	p.Leu365Val	rs769757791	missense variant	-	NC_000012.12:g.114676319G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Leu365Phe	rs769757791	missense variant	-	NC_000012.12:g.114676319G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Lys366Asn	rs1254986253	missense variant	-	NC_000012.12:g.114676314T>G	TOPMed
TBX3	O15119	p.Lys366ArgPheSerTerUnk	COSM6023947	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114676314_114676315TT>-	NCI-TCGA Cosmic
TBX3	O15119	p.Cys369Arg	rs762652334	missense variant	-	NC_000012.12:g.114674830A>G	ExAC,gnomAD
TBX3	O15119	p.Pro370Ala	rs890506392	missense variant	-	NC_000012.12:g.114674827G>C	TOPMed,gnomAD
TBX3	O15119	p.Pro370Ser	rs890506392	missense variant	-	NC_000012.12:g.114674827G>A	TOPMed,gnomAD
TBX3	O15119	p.Ser371Ile	rs772722825	missense variant	-	NC_000012.12:g.114674823C>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ser371Arg	rs899268368	missense variant	-	NC_000012.12:g.114674822G>T	TOPMed,gnomAD
TBX3	O15119	p.Gly373Val	RCV000658669	missense variant	-	NC_000012.12:g.114674817C>A	ClinVar
TBX3	O15119	p.Gly373Asp	rs769194863	missense variant	-	NC_000012.12:g.114674817C>T	ExAC,gnomAD
TBX3	O15119	p.Gly373Val	rs769194863	missense variant	-	NC_000012.12:g.114674817C>A	ExAC,gnomAD
TBX3	O15119	p.Gly373Ser	COSM546569	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114674818C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Glu374Lys	rs748067818	missense variant	-	NC_000012.12:g.114674815C>T	ExAC,gnomAD
TBX3	O15119	p.Ser375Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674811C>T	NCI-TCGA
TBX3	O15119	p.Ser375Arg	rs1198914710	missense variant	-	NC_000012.12:g.114674810G>T	TOPMed,gnomAD
TBX3	O15119	p.Asp376Val	rs1483156589	missense variant	-	NC_000012.12:g.114674808T>A	gnomAD
TBX3	O15119	p.Asp376Tyr	rs1312156913	missense variant	-	NC_000012.12:g.114674809C>A	TOPMed
TBX3	O15119	p.Ala377Thr	rs780968472	missense variant	-	NC_000012.12:g.114674806C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala377Ser	rs780968472	missense variant	-	NC_000012.12:g.114674806C>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala377Pro	rs780968472	missense variant	-	NC_000012.12:g.114674806C>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala379Thr	rs1316526395	missense variant	-	NC_000012.12:g.114674800C>T	gnomAD
TBX3	O15119	p.Glu380Lys	rs865915137	missense variant	-	NC_000012.12:g.114674797C>T	TOPMed,gnomAD
TBX3	O15119	p.Glu380Asp	RCV000596277	missense variant	-	NC_000012.12:g.114674795C>G	ClinVar
TBX3	O15119	p.Glu380Ter	rs865915137	stop gained	-	NC_000012.12:g.114674797C>A	TOPMed,gnomAD
TBX3	O15119	p.Glu380Asp	rs376189812	missense variant	-	NC_000012.12:g.114674795C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ser381Ile	rs780049501	missense variant	-	NC_000012.12:g.114674793C>A	ExAC,gnomAD
TBX3	O15119	p.Lys382Arg	rs758632611	missense variant	-	NC_000012.12:g.114674790T>C	ExAC,gnomAD
TBX3	O15119	p.Glu384Lys	rs750675454	missense variant	-	NC_000012.12:g.114674785C>T	ExAC,gnomAD
TBX3	O15119	p.Glu384Gly	rs1040058148	missense variant	-	NC_000012.12:g.114674784T>C	TOPMed,gnomAD
TBX3	O15119	p.His385Arg	rs141004177	missense variant	-	NC_000012.12:g.114674781T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.His385Arg	RCV000333594	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114674781T>C	ClinVar
TBX3	O15119	p.Glu388Asp	rs753046693	missense variant	-	NC_000012.12:g.114674771C>G	ExAC,gnomAD
TBX3	O15119	p.Glu388Gln	rs1185716503	missense variant	-	NC_000012.12:g.114674773C>G	gnomAD
TBX3	O15119	p.Cys390Arg	rs767883253	missense variant	-	NC_000012.12:g.114674767A>G	ExAC,gnomAD
TBX3	O15119	p.Asp391GluPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114674762G>-	NCI-TCGA
TBX3	O15119	p.Asp391Asn	rs1180836314	missense variant	-	NC_000012.12:g.114674764C>T	gnomAD
TBX3	O15119	p.Asp391Glu	rs762528344	missense variant	-	NC_000012.12:g.114674762G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala392Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674761C>T	NCI-TCGA
TBX3	O15119	p.Ala392Ser	rs1258048861	missense variant	-	NC_000012.12:g.114674761C>A	gnomAD
TBX3	O15119	p.Ala392Val	rs1214834962	missense variant	-	NC_000012.12:g.114674760G>A	gnomAD
TBX3	O15119	p.Lys394Thr	rs769533777	missense variant	-	NC_000012.12:g.114674754T>G	ExAC,gnomAD
TBX3	O15119	p.Lys394Asn	rs1242201658	missense variant	-	NC_000012.12:g.114674753C>A	gnomAD
TBX3	O15119	p.Ile395Val	rs1323302982	missense variant	-	NC_000012.12:g.114674752T>C	TOPMed
TBX3	O15119	p.Ser396Thr	RCV000388077	missense variant	-	NC_000012.12:g.114674749A>T	ClinVar
TBX3	O15119	p.Ser396Thr	rs78115331	missense variant	-	NC_000012.12:g.114674749A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ser396Cys	rs768701023	missense variant	-	NC_000012.12:g.114674748G>C	ExAC,gnomAD
TBX3	O15119	p.Ser396Thr	RCV000382366	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114674749A>T	ClinVar
TBX3	O15119	p.Thr398Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674743T>C	NCI-TCGA
TBX3	O15119	p.Thr399Met	rs746953122	missense variant	-	NC_000012.12:g.114674739G>A	ExAC,gnomAD
TBX3	O15119	p.Glu401Lys	rs1457604010	missense variant	-	NC_000012.12:g.114674734C>T	TOPMed,gnomAD
TBX3	O15119	p.Glu402Asp	rs772020891	missense variant	-	NC_000012.12:g.114674729C>A	ExAC,gnomAD
TBX3	O15119	p.Pro403Arg	rs746036481	missense variant	-	NC_000012.12:g.114674727G>C	ExAC
TBX3	O15119	p.Pro403Ser	rs1438265315	missense variant	-	NC_000012.12:g.114674728G>A	TOPMed,gnomAD
TBX3	O15119	p.Cys404Ser	rs1200233232	missense variant	-	NC_000012.12:g.114674725A>T	gnomAD
TBX3	O15119	p.Cys404Ser	rs1453795458	missense variant	-	NC_000012.12:g.114674724C>G	TOPMed,gnomAD
TBX3	O15119	p.Arg405Gly	rs370551433	missense variant	-	NC_000012.12:g.114674722G>C	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg405Cys	rs370551433	missense variant	-	NC_000012.12:g.114674722G>A	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg405His	rs1358091442	missense variant	-	NC_000012.12:g.114674721C>T	gnomAD
TBX3	O15119	p.Asp406Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674718T>C	NCI-TCGA
TBX3	O15119	p.Asp406Glu	rs1286371143	missense variant	-	NC_000012.12:g.114674717G>C	gnomAD
TBX3	O15119	p.Lys407Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674714C>A	NCI-TCGA
TBX3	O15119	p.Gly408Arg	rs1223450118	missense variant	-	NC_000012.12:g.114674713C>G	gnomAD
TBX3	O15119	p.Ser409Gly	rs1351262620	missense variant	-	NC_000012.12:g.114674710T>C	gnomAD
TBX3	O15119	p.Pro410Leu	COSM6071320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114674706G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Ala411Glu	rs755311630	missense variant	-	NC_000012.12:g.114674703G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala411Gly	rs755311630	missense variant	-	NC_000012.12:g.114674703G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala411Val	rs755311630	missense variant	-	NC_000012.12:g.114674703G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Val412Leu	rs1321490970	missense variant	-	NC_000012.12:g.114674701C>G	gnomAD
TBX3	O15119	p.Val412Ile	COSM4039065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114674701C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Ala414Thr	rs1336495393	missense variant	-	NC_000012.12:g.114674695C>T	gnomAD
TBX3	O15119	p.His415Pro	rs562854136	missense variant	-	NC_000012.12:g.114674691T>G	gnomAD
TBX3	O15119	p.Leu416Pro	rs1169673386	missense variant	-	NC_000012.12:g.114674688A>G	TOPMed
TBX3	O15119	p.Leu416Ile	rs1160735321	missense variant	-	NC_000012.12:g.114674689G>T	gnomAD
TBX3	O15119	p.Phe417Tyr	rs761584262	missense variant	-	NC_000012.12:g.114674685A>T	ExAC,gnomAD
TBX3	O15119	p.Ala418CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114674682_114674683GC>-	NCI-TCGA
TBX3	O15119	p.Ala418Thr	rs943648458	missense variant	-	NC_000012.12:g.114674683C>T	TOPMed,gnomAD
TBX3	O15119	p.Ala419Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674679G>A	NCI-TCGA
TBX3	O15119	p.Ala419Thr	rs775941025	missense variant	-	NC_000012.12:g.114674680C>T	ExAC,gnomAD
TBX3	O15119	p.Glu420Asp	rs763697862	missense variant	-	NC_000012.12:g.114674675C>G	ExAC,gnomAD
TBX3	O15119	p.Arg421Trp	rs912240752	missense variant	-	NC_000012.12:g.114674674G>A	TOPMed
TBX3	O15119	p.Arg421Pro	rs760646591	missense variant	-	NC_000012.12:g.114674673C>G	ExAC,gnomAD
TBX3	O15119	p.Pro422Ser	rs376074487	missense variant	-	NC_000012.12:g.114674671G>A	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg423Trp	rs1218376949	missense variant	-	NC_000012.12:g.114674668G>A	gnomAD
TBX3	O15119	p.Arg423Gln	rs145432134	missense variant	-	NC_000012.12:g.114674667C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg423Gln	RCV000754972	missense variant	Obesity (EO Obesity)	NC_000012.12:g.114674667C>T	ClinVar
TBX3	O15119	p.Asp424Asn	rs745622492	missense variant	-	NC_000012.12:g.114674665C>T	ExAC,gnomAD
TBX3	O15119	p.Ser425Arg	rs774272475	missense variant	-	NC_000012.12:g.114674660G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly426Arg	rs771049124	missense variant	-	NC_000012.12:g.114674659C>T	ExAC,gnomAD
TBX3	O15119	p.Arg427Trp	rs777764537	missense variant	-	NC_000012.12:g.114674656G>A	ExAC,gnomAD
TBX3	O15119	p.Arg427Gln	rs951396136	missense variant	-	NC_000012.12:g.114674655C>T	TOPMed,gnomAD
TBX3	O15119	p.Asp429Glu	rs748607794	missense variant	-	NC_000012.12:g.114674648G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Lys430Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674646T>G	NCI-TCGA
TBX3	O15119	p.Ala431Val	rs1398394014	missense variant	-	NC_000012.12:g.114674643G>A	gnomAD
TBX3	O15119	p.Ala431Ser	rs1359476779	missense variant	-	NC_000012.12:g.114674644C>A	gnomAD
TBX3	O15119	p.Ser432Trp	rs372774795	missense variant	-	NC_000012.12:g.114674640G>C	ESP,TOPMed,gnomAD
TBX3	O15119	p.Ser432Leu	COSM3792221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114674640G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Pro433Ser	rs540908799	missense variant	-	NC_000012.12:g.114674638G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro433Ala	rs540908799	missense variant	-	NC_000012.12:g.114674638G>C	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Asp434Glu	rs1423724888	missense variant	-	NC_000012.12:g.114674633G>C	TOPMed,gnomAD
TBX3	O15119	p.Asp434Asn	rs1033763029	missense variant	-	NC_000012.12:g.114674635C>T	TOPMed,gnomAD
TBX3	O15119	p.Ser435Thr	rs1363892052	missense variant	-	NC_000012.12:g.114674632A>T	gnomAD
TBX3	O15119	p.Ser435Leu	rs369654422	missense variant	-	NC_000012.12:g.114674631G>A	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.His437Arg	rs375076522	missense variant	-	NC_000012.12:g.114674625T>C	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.His437Gln	rs1179797029	missense variant	-	NC_000012.12:g.114674624A>T	TOPMed
TBX3	O15119	p.His437Arg	RCV000303192	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114674625T>C	ClinVar
TBX3	O15119	p.Pro439Leu	rs760237826	missense variant	-	NC_000012.12:g.114674619G>A	ExAC,gnomAD
TBX3	O15119	p.Pro439Ser	rs1443972149	missense variant	-	NC_000012.12:g.114674620G>A	gnomAD
TBX3	O15119	p.Ala440Gly	rs200038495	missense variant	-	NC_000012.12:g.114674616G>C	1000Genomes,gnomAD
TBX3	O15119	p.Ala440Val	rs200038495	missense variant	-	NC_000012.12:g.114674616G>A	1000Genomes,gnomAD
TBX3	O15119	p.Ala440Thr	rs775182377	missense variant	-	NC_000012.12:g.114674617C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala440Pro	rs775182377	missense variant	-	NC_000012.12:g.114674617C>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala440Ser	rs775182377	missense variant	-	NC_000012.12:g.114674617C>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ser443AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114674609_114674610insATGGTGGCGGGGCT	NCI-TCGA
TBX3	O15119	p.Ser443Ala	rs759577302	missense variant	-	NC_000012.12:g.114674608A>C	ExAC,gnomAD
TBX3	O15119	p.Ser444Phe	rs1450439762	missense variant	-	NC_000012.12:g.114674604G>A	TOPMed,gnomAD
TBX3	O15119	p.Ser445Gly	rs773448509	missense variant	-	NC_000012.12:g.114674602T>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ser445Arg	rs773448509	missense variant	-	NC_000012.12:g.114674602T>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Thr446Ser	rs941278850	missense variant	-	NC_000012.12:g.114674598G>C	TOPMed,gnomAD
TBX3	O15119	p.Arg447Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674596G>C	NCI-TCGA
TBX3	O15119	p.Arg447His	rs770040454	missense variant	-	NC_000012.12:g.114674595C>T	ExAC,gnomAD
TBX3	O15119	p.Arg447Cys	rs888338239	missense variant	-	NC_000012.12:g.114674596G>A	TOPMed,gnomAD
TBX3	O15119	p.Gly448Asp	rs1182105031	missense variant	-	NC_000012.12:g.114674592C>T	gnomAD
TBX3	O15119	p.Gly448Cys	rs1418131493	missense variant	-	NC_000012.12:g.114674593C>A	gnomAD
TBX3	O15119	p.Gly450Asp	rs781304111	missense variant	-	NC_000012.12:g.114674586C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly450Ser	rs1182691296	missense variant	-	NC_000012.12:g.114674587C>T	TOPMed,gnomAD
TBX3	O15119	p.Gly450Val	rs781304111	missense variant	-	NC_000012.12:g.114674586C>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala451Val	rs565848855	missense variant	-	NC_000012.12:g.114674583G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Glu452Lys	rs1215745344	missense variant	-	NC_000012.12:g.114674581C>T	TOPMed
TBX3	O15119	p.Arg454Ser	rs374981272	missense variant	-	NC_000012.12:g.114674575G>T	ESP,ExAC,gnomAD
TBX3	O15119	p.Arg454His	rs758811184	missense variant	-	NC_000012.12:g.114674574C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg454Cys	rs374981272	missense variant	-	NC_000012.12:g.114674575G>A	ESP,ExAC,gnomAD
TBX3	O15119	p.Pro457Leu	rs371891930	missense variant	-	NC_000012.12:g.114674565G>A	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro457Thr	rs755898047	missense variant	-	NC_000012.12:g.114674566G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg459Cys	rs751549922	missense variant	-	NC_000012.12:g.114674560G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg459His	rs1411259653	missense variant	-	NC_000012.12:g.114674559C>T	gnomAD
TBX3	O15119	p.Arg459Gly	rs751549922	missense variant	-	NC_000012.12:g.114674560G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Glu460Gln	rs1440126149	missense variant	-	NC_000012.12:g.114674557C>G	gnomAD
TBX3	O15119	p.Glu460Lys	rs1440126149	missense variant	-	NC_000012.12:g.114674557C>T	gnomAD
TBX3	O15119	p.Gly461Asp	rs1176725361	missense variant	-	NC_000012.12:g.114674553C>T	gnomAD
TBX3	O15119	p.Gly461Ser	rs1239750042	missense variant	-	NC_000012.12:g.114674554C>T	gnomAD
TBX3	O15119	p.Thr462Ser	rs1480230095	missense variant	-	NC_000012.12:g.114674551T>A	gnomAD
TBX3	O15119	p.Ala463Val	rs1247378046	missense variant	-	NC_000012.12:g.114674547G>A	gnomAD
TBX3	O15119	p.Pro464Arg	rs1377897599	missense variant	-	NC_000012.12:g.114674544G>C	TOPMed
TBX3	O15119	p.Pro464Thr	COSM691945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114674545G>T	NCI-TCGA Cosmic
TBX3	O15119	p.Ala465Asp	rs1241117139	missense variant	-	NC_000012.12:g.114674541G>T	gnomAD
TBX3	O15119	p.Ala465Thr	rs1291364957	missense variant	-	NC_000012.12:g.114674542C>T	TOPMed,gnomAD
TBX3	O15119	p.Val467Met	rs1039440316	missense variant	-	NC_000012.12:g.114674536C>T	TOPMed,gnomAD
TBX3	O15119	p.Glu468Lys	rs773055576	missense variant	-	NC_000012.12:g.114674533C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Glu468Val	rs958290156	missense variant	-	NC_000012.12:g.114674532T>A	TOPMed
TBX3	O15119	p.Glu468Ter	rs773055576	stop gained	-	NC_000012.12:g.114674533C>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala470Val	rs924154861	missense variant	-	NC_000012.12:g.114674526G>A	TOPMed,gnomAD
TBX3	O15119	p.Arg471His	rs1438073122	missense variant	-	NC_000012.12:g.114674523C>T	TOPMed,gnomAD
TBX3	O15119	p.Arg471Cys	rs1295791270	missense variant	-	NC_000012.12:g.114674524G>A	TOPMed,gnomAD
TBX3	O15119	p.Arg471Leu	rs1438073122	missense variant	-	NC_000012.12:g.114674523C>A	TOPMed,gnomAD
TBX3	O15119	p.Ala472Thr	rs1302202171	missense variant	-	NC_000012.12:g.114674521C>T	gnomAD
TBX3	O15119	p.Pro474Arg	rs762031545	missense variant	-	NC_000012.12:g.114674514G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro474Leu	rs762031545	missense variant	-	NC_000012.12:g.114674514G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly475Ser	rs776621762	missense variant	-	NC_000012.12:g.114674512C>T	ExAC,gnomAD
TBX3	O15119	p.Gly475Asp	rs1192814694	missense variant	-	NC_000012.12:g.114674511C>T	TOPMed,gnomAD
TBX3	O15119	p.Ala478Gly	rs557929464	missense variant	-	NC_000012.12:g.114674502G>C	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala478Val	rs557929464	missense variant	-	NC_000012.12:g.114674502G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Phe479Val	rs1217657389	missense variant	-	NC_000012.12:g.114674500A>C	gnomAD
TBX3	O15119	p.Ala480Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674496G>C	NCI-TCGA
TBX3	O15119	p.Ala480Val	rs1284348347	missense variant	-	NC_000012.12:g.114674496G>A	gnomAD
TBX3	O15119	p.Pro481Ser	rs537957080	missense variant	-	NC_000012.12:g.114674494G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro481Leu	rs772493303	missense variant	-	NC_000012.12:g.114674493G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro481Arg	rs772493303	missense variant	-	NC_000012.12:g.114674493G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro481Gln	rs772493303	missense variant	-	NC_000012.12:g.114674493G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Thr483Met	rs1282046318	missense variant	-	NC_000012.12:g.114674487G>A	gnomAD
TBX3	O15119	p.Val484Met	rs1400241499	missense variant	-	NC_000012.12:g.114674485C>T	gnomAD
TBX3	O15119	p.Gln485His	rs1286749643	missense variant	-	NC_000012.12:g.114674480C>G	TOPMed,gnomAD
TBX3	O15119	p.Thr486Met	rs1018135320	missense variant	-	NC_000012.12:g.114674478G>A	TOPMed,gnomAD
TBX3	O15119	p.Asp487Gly	rs1178166072	missense variant	-	NC_000012.12:g.114674475T>C	gnomAD
TBX3	O15119	p.Ala488Ser	rs1428684030	missense variant	-	NC_000012.12:g.114674473C>A	gnomAD
TBX3	O15119	p.Ala488Val	rs973929178	missense variant	-	NC_000012.12:g.114674472G>A	gnomAD
TBX3	O15119	p.Ala489Pro	rs746231917	missense variant	-	NC_000012.12:g.114674470C>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala489Ser	rs746231917	missense variant	-	NC_000012.12:g.114674470C>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala490Ser	rs544562535	missense variant	-	NC_000012.12:g.114674467C>A	TOPMed,gnomAD
TBX3	O15119	p.Ala490Thr	rs544562535	missense variant	-	NC_000012.12:g.114674467C>T	TOPMed,gnomAD
TBX3	O15119	p.Ala491Glu	rs575298892	missense variant	-	NC_000012.12:g.114674463G>T	1000Genomes,TOPMed,gnomAD
TBX3	O15119	p.Ala491Thr	rs1446220330	missense variant	-	NC_000012.12:g.114674464C>T	TOPMed
TBX3	O15119	p.Ala494Val	rs1208681777	missense variant	-	NC_000012.12:g.114674454G>A	gnomAD
TBX3	O15119	p.Ala494Thr	rs1258087026	missense variant	-	NC_000012.12:g.114674455C>T	gnomAD
TBX3	O15119	p.Gln495Ter	RCV000477734	nonsense	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114674452G>A	ClinVar
TBX3	O15119	p.Gln495Ter	rs1060505020	stop gained	Ulnar-mammary syndrome (ums)	NC_000012.12:g.114674452G>A	-
TBX3	O15119	p.Gly496Val	rs1024919027	missense variant	-	NC_000012.12:g.114674448C>A	TOPMed,gnomAD
TBX3	O15119	p.Gly496Asp	rs1024919027	missense variant	-	NC_000012.12:g.114674448C>T	TOPMed,gnomAD
TBX3	O15119	p.Pro497Ser	rs1218779893	missense variant	-	NC_000012.12:g.114674446G>A	gnomAD
TBX3	O15119	p.Pro497Leu	rs1345506334	missense variant	-	NC_000012.12:g.114674445G>A	TOPMed
TBX3	O15119	p.Leu498Gln	rs1381252826	missense variant	-	NC_000012.12:g.114674442A>T	gnomAD
TBX3	O15119	p.Pro499Ser	rs1304301066	missense variant	-	NC_000012.12:g.114674440G>A	gnomAD
TBX3	O15119	p.Gly500Asp	rs755770688	missense variant	-	NC_000012.12:g.114674436C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly500Val	rs755770688	missense variant	-	NC_000012.12:g.114674436C>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Leu501Phe	rs1405341560	missense variant	-	NC_000012.12:g.114674434G>A	gnomAD
TBX3	O15119	p.Phe503Leu	rs1198728710	missense variant	-	NC_000012.12:g.114674428A>G	TOPMed
TBX3	O15119	p.Ala504Thr	rs780531262	missense variant	-	NC_000012.12:g.114674425C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala504Asp	rs754541756	missense variant	-	NC_000012.12:g.114674424G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala504Ser	rs780531262	missense variant	-	NC_000012.12:g.114674425C>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly506Ser	rs1258709646	missense variant	-	NC_000012.12:g.114674419C>T	gnomAD
TBX3	O15119	p.Ala508Thr	rs994091095	missense variant	-	NC_000012.12:g.114674413C>T	TOPMed
TBX3	O15119	p.Ala508Glu	rs766332681	missense variant	-	NC_000012.12:g.114674412G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala508Val	rs766332681	missense variant	-	NC_000012.12:g.114674412G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly509Asp	rs1259313182	missense variant	-	NC_000012.12:g.114674409C>T	gnomAD
TBX3	O15119	p.Phe513Cys	rs1398681508	missense variant	-	NC_000012.12:g.114674397A>C	TOPMed
TBX3	O15119	p.Asn514Ser	rs750157618	missense variant	-	NC_000012.12:g.114674394T>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly515Arg	rs1226242461	missense variant	-	NC_000012.12:g.114674392C>T	gnomAD
TBX3	O15119	p.Gly515Glu	rs1321883287	missense variant	-	NC_000012.12:g.114674391C>T	TOPMed,gnomAD
TBX3	O15119	p.His516Leu	rs1314420883	missense variant	-	NC_000012.12:g.114674388T>A	TOPMed,gnomAD
TBX3	O15119	p.Pro517Ser	rs1275992297	missense variant	-	NC_000012.12:g.114674386G>A	TOPMed
TBX3	O15119	p.Pro517Leu	rs1450269147	missense variant	-	NC_000012.12:g.114674385G>A	TOPMed,gnomAD
TBX3	O15119	p.His521Asn	rs535507808	missense variant	-	NC_000012.12:g.114674374G>T	1000Genomes,ExAC,gnomAD
TBX3	O15119	p.His521Tyr	rs535507808	missense variant	-	NC_000012.12:g.114674374G>A	1000Genomes,ExAC,gnomAD
TBX3	O15119	p.Pro522Ala	rs899972922	missense variant	-	NC_000012.12:g.114674371G>C	TOPMed
TBX3	O15119	p.Ser523Arg	rs1394460148	missense variant	-	NC_000012.12:g.114674366G>C	gnomAD
TBX3	O15119	p.Ser523Arg	rs1394460148	missense variant	-	NC_000012.12:g.114674366G>T	gnomAD
TBX3	O15119	p.Gln524Arg	rs1167341195	missense variant	-	NC_000012.12:g.114674364T>C	gnomAD
TBX3	O15119	p.Gln524His	rs1458461555	missense variant	-	NC_000012.12:g.114674363C>G	TOPMed,gnomAD
TBX3	O15119	p.Met527Val	rs936879280	missense variant	-	NC_000012.12:g.114674356T>C	TOPMed
TBX3	O15119	p.Gly528Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674352C>G	NCI-TCGA
TBX3	O15119	p.Gly529Asp	rs1370487115	missense variant	-	NC_000012.12:g.114674349C>T	gnomAD
TBX3	O15119	p.Gly529Ala	rs1370487115	missense variant	-	NC_000012.12:g.114674349C>G	gnomAD
TBX3	O15119	p.Ala530Thr	rs1444457719	missense variant	-	NC_000012.12:g.114674347C>T	gnomAD
TBX3	O15119	p.Ser533Asn	rs566842835	missense variant	-	NC_000012.12:g.114674337C>T	1000Genomes,ExAC,gnomAD
TBX3	O15119	p.Met534Lys	rs1447833815	missense variant	-	NC_000012.12:g.114674334A>T	gnomAD
TBX3	O15119	p.Met534Val	rs200948009	missense variant	-	NC_000012.12:g.114674335T>C	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala537Pro	rs772620679	missense variant	-	NC_000012.12:g.114674326C>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala537Thr	rs772620679	missense variant	-	NC_000012.12:g.114674326C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Met539Thr	rs1243297711	missense variant	-	NC_000012.12:g.114674319A>G	gnomAD
TBX3	O15119	p.Gly540Ala	rs774790019	missense variant	-	NC_000012.12:g.114674316C>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly540Asp	rs774790019	missense variant	-	NC_000012.12:g.114674316C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly540Ser	rs746391253	missense variant	-	NC_000012.12:g.114674317C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro541Thr	rs539716467	missense variant	-	NC_000012.12:g.114674314G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro541Ser	rs539716467	missense variant	-	NC_000012.12:g.114674314G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Leu542Phe	rs780879062	missense variant	-	NC_000012.12:g.114674311G>A	ExAC,gnomAD
TBX3	O15119	p.Gly548Val	rs1296134076	missense variant	-	NC_000012.12:g.114674292C>A	TOPMed
TBX3	O15119	p.Ala549Val	rs1301548236	missense variant	-	NC_000012.12:g.114674289G>A	gnomAD
TBX3	O15119	p.Gly552Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674281C>T	NCI-TCGA
TBX3	O15119	p.Gly552Cys	rs1160762375	missense variant	-	NC_000012.12:g.114674281C>A	TOPMed,gnomAD
TBX3	O15119	p.Gly552Arg	rs1160762375	missense variant	-	NC_000012.12:g.114674281C>G	TOPMed,gnomAD
TBX3	O15119	p.Ser554Leu	rs764962945	missense variant	-	NC_000012.12:g.114674274G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ser558Cys	rs1200162263	missense variant	-	NC_000012.12:g.114674262G>C	gnomAD
TBX3	O15119	p.Thr559Met	rs757023811	missense variant	-	NC_000012.12:g.114674259G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala560Thr	rs1219837774	missense variant	-	NC_000012.12:g.114674257C>T	gnomAD
TBX3	O15119	p.Met561Val	rs753614292	missense variant	-	NC_000012.12:g.114674254T>C	ExAC,gnomAD
TBX3	O15119	p.Ala562Val	rs201325654	missense variant	-	NC_000012.12:g.114674250G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala562Thr	rs374941856	missense variant	-	NC_000012.12:g.114674251C>T	ExAC,gnomAD
TBX3	O15119	p.Ala562Val	RCV000361036	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114674250G>A	ClinVar
TBX3	O15119	p.Ala564Thr	rs775584392	missense variant	-	NC_000012.12:g.114674245C>T	ExAC,gnomAD
TBX3	O15119	p.Ala565Thr	rs767500073	missense variant	-	NC_000012.12:g.114674242C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala566Val	rs372029833	missense variant	-	NC_000012.12:g.114674238G>A	ESP,TOPMed,gnomAD
TBX3	O15119	p.Ala567Ser	rs1281379922	missense variant	-	NC_000012.12:g.114674236C>A	gnomAD
TBX3	O15119	p.Ala567Thr	rs1281379922	missense variant	-	NC_000012.12:g.114674236C>T	gnomAD
TBX3	O15119	p.Ala567Val	rs1316375409	missense variant	-	NC_000012.12:g.114674235G>A	gnomAD
TBX3	O15119	p.Gly569Glu	rs1361474297	missense variant	-	NC_000012.12:g.114674229C>T	gnomAD
TBX3	O15119	p.Ser571Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674223G>A	NCI-TCGA
TBX3	O15119	p.Ser571Cys	rs1300277161	missense variant	-	NC_000012.12:g.114674223G>C	gnomAD
TBX3	O15119	p.Gly572Glu	rs1446406418	missense variant	-	NC_000012.12:g.114674220C>T	TOPMed
TBX3	O15119	p.Gly572Arg	rs749641288	missense variant	-	NC_000012.12:g.114674221C>G	ExAC,gnomAD
TBX3	O15119	p.Ala573Thr	rs1479267403	missense variant	-	NC_000012.12:g.114674218C>T	gnomAD
TBX3	O15119	p.Ala573Val	rs773504740	missense variant	-	NC_000012.12:g.114674217G>A	ExAC,gnomAD
TBX3	O15119	p.Ala575Thr	rs1156821376	missense variant	-	NC_000012.12:g.114674212C>T	TOPMed
TBX3	O15119	p.Ala575Val	rs1263505115	missense variant	-	NC_000012.12:g.114674211G>A	TOPMed,gnomAD
TBX3	O15119	p.Ala575Gly	rs1263505115	missense variant	-	NC_000012.12:g.114674211G>C	TOPMed,gnomAD
TBX3	O15119	p.Ala576Thr	rs1445090095	missense variant	-	NC_000012.12:g.114674209C>T	gnomAD
TBX3	O15119	p.Ala576Val	rs1399626159	missense variant	-	NC_000012.12:g.114674208G>A	TOPMed
TBX3	O15119	p.Thr577Ile	rs1229095604	missense variant	-	NC_000012.12:g.114674205G>A	gnomAD
TBX3	O15119	p.Leu578Arg	rs1200965652	missense variant	-	NC_000012.12:g.114674202A>C	gnomAD
TBX3	O15119	p.Pro579Leu	rs375482722	missense variant	-	NC_000012.12:g.114674199G>A	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.His581Tyr	rs1384412351	missense variant	-	NC_000012.12:g.114674194G>A	TOPMed
TBX3	O15119	p.Leu582Val	rs1223050643	missense variant	-	NC_000012.12:g.114674191G>C	gnomAD
TBX3	O15119	p.His585Gln	RCV000300557	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114674180G>T	ClinVar
TBX3	O15119	p.His585Gln	rs528110988	missense variant	-	NC_000012.12:g.114674180G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Val586Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114674179C>T	NCI-TCGA
TBX3	O15119	p.Leu587Pro	rs757250778	missense variant	-	NC_000012.12:g.114674175A>G	ExAC,gnomAD
TBX3	O15119	p.Ala588Ser	rs1326245416	missense variant	-	NC_000012.12:g.114674173C>A	TOPMed,gnomAD
TBX3	O15119	p.Ala588Thr	rs1326245416	missense variant	-	NC_000012.12:g.114674173C>T	TOPMed,gnomAD
TBX3	O15119	p.Ser589Phe	COSM6071321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114674169G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Gln590Leu	rs753655242	missense variant	-	NC_000012.12:g.114674166T>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gln590His	rs1262807912	missense variant	-	NC_000012.12:g.114674165C>G	TOPMed
TBX3	O15119	p.Gln590Arg	rs753655242	missense variant	-	NC_000012.12:g.114674166T>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala593Thr	rs1182949304	missense variant	-	NC_000012.12:g.114672296C>T	gnomAD
TBX3	O15119	p.Ala593Val	rs1458110040	missense variant	-	NC_000012.12:g.114672295G>A	TOPMed,gnomAD
TBX3	O15119	p.Met594Thr	rs1479824258	missense variant	-	NC_000012.12:g.114672292A>G	TOPMed
TBX3	O15119	p.Ser595Pro	rs930385721	missense variant	-	NC_000012.12:g.114672290A>G	TOPMed
TBX3	O15119	p.Ser595Phe	rs867417931	missense variant	-	NC_000012.12:g.114672289G>A	TOPMed,gnomAD
TBX3	O15119	p.Ser595Tyr	rs867417931	missense variant	-	NC_000012.12:g.114672289G>T	TOPMed,gnomAD
TBX3	O15119	p.Pro596Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114672287G>C	NCI-TCGA
TBX3	O15119	p.Pro596Ser	rs1437311804	missense variant	-	NC_000012.12:g.114672287G>A	gnomAD
TBX3	O15119	p.Phe597Leu	rs753940578	missense variant	-	NC_000012.12:g.114672282G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Phe597Ser	rs778450474	missense variant	-	NC_000012.12:g.114672283A>G	ExAC,gnomAD
TBX3	O15119	p.Gly598Glu	rs1456840061	missense variant	-	NC_000012.12:g.114672280C>T	gnomAD
TBX3	O15119	p.Gly598Arg	rs1314719430	missense variant	-	NC_000012.12:g.114672281C>T	gnomAD
TBX3	O15119	p.Ser599Gly	rs749188927	missense variant	-	NC_000012.12:g.114672278T>C	ExAC,gnomAD
TBX3	O15119	p.Ser599Arg	rs1376234157	missense variant	-	NC_000012.12:g.114672276G>C	gnomAD
TBX3	O15119	p.Leu600Met	rs1296950217	missense variant	-	NC_000012.12:g.114672275G>T	gnomAD
TBX3	O15119	p.Pro602Leu	rs777583851	missense variant	-	NC_000012.12:g.114672268G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro604Ser	rs971835561	missense variant	-	NC_000012.12:g.114672263G>A	TOPMed,gnomAD
TBX3	O15119	p.Thr606Met	rs755884541	missense variant	-	NC_000012.12:g.114672256G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Met608Leu	rs755321111	missense variant	-	NC_000012.12:g.114672251T>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Met608Val	rs755321111	missense variant	-	NC_000012.12:g.114672251T>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Met608Leu	rs755321111	missense variant	-	NC_000012.12:g.114672251T>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala610Thr	rs751628989	missense variant	-	NC_000012.12:g.114672245C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala610Glu	rs1313914234	missense variant	-	NC_000012.12:g.114672244G>T	TOPMed
TBX3	O15119	p.Ala611Thr	rs766569858	missense variant	-	NC_000012.12:g.114672242C>T	ExAC,gnomAD
TBX3	O15119	p.Ala611Val	rs867049310	missense variant	-	NC_000012.12:g.114672241G>A	gnomAD
TBX3	O15119	p.Ala611Glu	rs867049310	missense variant	-	NC_000012.12:g.114672241G>T	gnomAD
TBX3	O15119	p.Ala612Thr	rs1247323875	missense variant	-	NC_000012.12:g.114672239C>T	gnomAD
TBX3	O15119	p.Ala613Gly	rs1225011740	missense variant	-	NC_000012.12:g.114672235G>C	gnomAD
TBX3	O15119	p.Ala614Ser	rs1291296572	missense variant	-	NC_000012.12:g.114672233C>A	gnomAD
TBX3	O15119	p.Ala614Thr	rs1291296572	missense variant	-	NC_000012.12:g.114672233C>T	gnomAD
TBX3	O15119	p.Ser615Ala	rs763473739	missense variant	-	NC_000012.12:g.114672230A>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ser615Ala	RCV000407537	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114672230A>C	ClinVar
TBX3	O15119	p.Ala617Val	rs200821102	missense variant	-	NC_000012.12:g.114672223G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala617Val	RCV000349644	missense variant	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114672223G>A	ClinVar
TBX3	O15119	p.Ala617Pro	rs1223672232	missense variant	-	NC_000012.12:g.114672224C>G	gnomAD
TBX3	O15119	p.Ala617Glu	rs200821102	missense variant	-	NC_000012.12:g.114672223G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala617Thr	COSM691946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114672224C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Ala618Thr	rs765821877	missense variant	-	NC_000012.12:g.114672221C>T	ExAC,gnomAD
TBX3	O15119	p.Ala619Ser	rs1191297422	missense variant	-	NC_000012.12:g.114672218C>A	TOPMed
TBX3	O15119	p.Ser621Arg	rs1346724744	missense variant	-	NC_000012.12:g.114672210G>C	gnomAD
TBX3	O15119	p.His624Arg	rs759202204	missense variant	-	NC_000012.12:g.114672202T>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.His624Asn	rs771698419	missense variant	-	NC_000012.12:g.114672203G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg625His	rs1201751425	missense variant	-	NC_000012.12:g.114672199C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Arg625Cys	rs773785943	missense variant	-	NC_000012.12:g.114672200G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg625His	rs1201751425	missense variant	-	NC_000012.12:g.114672199C>T	TOPMed,gnomAD
TBX3	O15119	p.Arg625Ser	rs773785943	missense variant	-	NC_000012.12:g.114672200G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.His626Gln	rs954634731	missense variant	-	NC_000012.12:g.114672195G>T	TOPMed,gnomAD
TBX3	O15119	p.Leu629Phe	rs1259293033	missense variant	-	NC_000012.12:g.114672188G>A	gnomAD
TBX3	O15119	p.Asn630Ser	rs1445898564	missense variant	-	NC_000012.12:g.114672184T>C	gnomAD
TBX3	O15119	p.Leu631Val	rs769814877	missense variant	-	NC_000012.12:g.114672182G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Leu631Pro	rs747894358	missense variant	-	NC_000012.12:g.114672181A>G	ExAC,gnomAD
TBX3	O15119	p.Leu631Met	rs769814877	missense variant	-	NC_000012.12:g.114672182G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Asn632Lys	rs1040183921	missense variant	-	NC_000012.12:g.114672177G>C	TOPMed,gnomAD
TBX3	O15119	p.Thr633Ile	rs189469110	missense variant	-	NC_000012.12:g.114672175G>A	1000Genomes,gnomAD
TBX3	O15119	p.Thr633Ala	rs1343061173	missense variant	-	NC_000012.12:g.114672176T>C	gnomAD
TBX3	O15119	p.Thr633Ser	COSM4918852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114672176T>A	NCI-TCGA Cosmic
TBX3	O15119	p.Met634Val	rs1382396799	missense variant	-	NC_000012.12:g.114672173T>C	TOPMed,gnomAD
TBX3	O15119	p.Arg635Cys	rs781193551	missense variant	-	NC_000012.12:g.114672170G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Arg635His	rs1286841573	missense variant	-	NC_000012.12:g.114672169C>T	gnomAD
TBX3	O15119	p.Arg635Cys	rs781193551	missense variant	-	NC_000012.12:g.114672170G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg635Gly	rs781193551	missense variant	-	NC_000012.12:g.114672170G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro636Gln	rs755181770	missense variant	-	NC_000012.12:g.114672166G>T	ExAC,gnomAD
TBX3	O15119	p.Arg637Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114672164G>A	NCI-TCGA
TBX3	O15119	p.Leu638Val	rs1468341577	missense variant	-	NC_000012.12:g.114672161G>C	gnomAD
TBX3	O15119	p.Pro642Ser	rs1171437549	missense variant	-	NC_000012.12:g.114672149G>A	gnomAD
TBX3	O15119	p.Ser644Phe	COSM3456528	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114672142G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Ile645Met	rs1260105802	missense variant	-	NC_000012.12:g.114672138G>C	TOPMed,gnomAD
TBX3	O15119	p.Pro646Leu	rs1186364207	missense variant	-	NC_000012.12:g.114672136G>A	gnomAD
TBX3	O15119	p.Val647Ala	rs780229109	missense variant	-	NC_000012.12:g.114672133A>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Val647Met	rs1245554909	missense variant	-	NC_000012.12:g.114672134C>T	gnomAD
TBX3	O15119	p.Pro648Ser	rs1320834041	missense variant	-	NC_000012.12:g.114672131G>A	TOPMed,gnomAD
TBX3	O15119	p.Pro650Leu	rs1308949255	missense variant	-	NC_000012.12:g.114672124G>A	gnomAD
TBX3	O15119	p.Pro650Gln	COSM935496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114672124G>T	NCI-TCGA Cosmic
TBX3	O15119	p.Pro650Leu	rs1308949255	missense variant	-	NC_000012.12:g.114672124G>A	NCI-TCGA Cosmic
TBX3	O15119	p.Asp651Glu	rs757838938	missense variant	-	NC_000012.12:g.114672120G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly652Ser	rs754142951	missense variant	-	NC_000012.12:g.114672119C>T	ExAC,TOPMed
TBX3	O15119	p.Gly652Ser	RCV000597929	missense variant	-	NC_000012.12:g.114672119C>T	ClinVar
TBX3	O15119	p.Gly652Cys	rs754142951	missense variant	-	NC_000012.12:g.114672119C>A	ExAC,TOPMed
TBX3	O15119	p.Gly652Asp	rs1383226635	missense variant	-	NC_000012.12:g.114672118C>T	TOPMed,gnomAD
TBX3	O15119	p.Ser653Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114672115C>A	NCI-TCGA
TBX3	O15119	p.Ser653Asn	rs1338643169	missense variant	-	NC_000012.12:g.114672115C>T	gnomAD
TBX3	O15119	p.Ser654Arg	rs1405449761	missense variant	-	NC_000012.12:g.114672113T>G	gnomAD
TBX3	O15119	p.Ser654Asn	rs1298766115	missense variant	-	NC_000012.12:g.114672112C>T	gnomAD
TBX3	O15119	p.Leu656Phe	rs563684608	missense variant	-	NC_000012.12:g.114672107G>A	1000Genomes
TBX3	O15119	p.Thr658Asn	rs1445671634	missense variant	-	NC_000012.12:g.114672100G>T	gnomAD
TBX3	O15119	p.Thr658Ala	rs199719014	missense variant	-	NC_000012.12:g.114672101T>C	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala659Thr	rs1182290035	missense variant	-	NC_000012.12:g.114672098C>T	gnomAD
TBX3	O15119	p.Pro661Ter	RCV000722180	frameshift	Ulnar-mammary syndrome (UMS)	NC_000012.12:g.114672092_114672093dup	ClinVar
TBX3	O15119	p.Ser662Cys	rs1239302522	missense variant	-	NC_000012.12:g.114672088G>C	gnomAD
TBX3	O15119	p.Ser662Phe	rs1239302522	missense variant	-	NC_000012.12:g.114672088G>A	gnomAD
TBX3	O15119	p.Met663Thr	rs766105115	missense variant	-	NC_000012.12:g.114672085A>G	ExAC,gnomAD
TBX3	O15119	p.Ala664Val	rs762342872	missense variant	-	NC_000012.12:g.114672082G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala665Val	rs1235095687	missense variant	-	NC_000012.12:g.114672079G>A	NCI-TCGA
TBX3	O15119	p.Ala665Val	rs1235095687	missense variant	-	NC_000012.12:g.114672079G>A	gnomAD
TBX3	O15119	p.Ala666Val	rs940436570	missense variant	-	NC_000012.12:g.114672076G>A	TOPMed,gnomAD
TBX3	O15119	p.Ala667Thr	rs1268167495	missense variant	-	NC_000012.12:g.114672074C>T	TOPMed
TBX3	O15119	p.Ala667Val	rs748098418	missense variant	-	NC_000012.12:g.114672073G>A	ExAC,gnomAD
TBX3	O15119	p.Ala667Glu	rs748098418	missense variant	-	NC_000012.12:g.114672073G>T	ExAC,gnomAD
TBX3	O15119	p.Gly668Arg	rs768590444	missense variant	-	NC_000012.12:g.114672071C>T	ExAC,gnomAD
TBX3	O15119	p.Pro669His	rs917426315	missense variant	-	NC_000012.12:g.114672067G>T	TOPMed,gnomAD
TBX3	O15119	p.Pro669Ala	rs1465838237	missense variant	-	NC_000012.12:g.114672068G>C	TOPMed
TBX3	O15119	p.Asp671Asn	rs780391500	missense variant	-	NC_000012.12:g.114672062C>T	ExAC,gnomAD
TBX3	O15119	p.Asp671Gly	rs1472675655	missense variant	-	NC_000012.12:g.114672061T>C	TOPMed
TBX3	O15119	p.Gly672Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114672058C>T	NCI-TCGA
TBX3	O15119	p.Gly672Ser	rs1367860375	missense variant	-	NC_000012.12:g.114672059C>T	TOPMed,gnomAD
TBX3	O15119	p.Gly672Arg	rs1367860375	missense variant	-	NC_000012.12:g.114672059C>G	TOPMed,gnomAD
TBX3	O15119	p.Lys673Thr	rs1416254745	missense variant	-	NC_000012.12:g.114672055T>G	TOPMed
TBX3	O15119	p.Lys673Arg	COSM4392501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114672055T>C	NCI-TCGA Cosmic
TBX3	O15119	p.Ala675Gly	rs1184573194	missense variant	-	NC_000012.12:g.114672049G>C	gnomAD
TBX3	O15119	p.Ala675Thr	rs745920930	missense variant	-	NC_000012.12:g.114672050C>T	ExAC,gnomAD
TBX3	O15119	p.Ala676Ser	rs1013102657	missense variant	-	NC_000012.12:g.114672047C>A	gnomAD
TBX3	O15119	p.Ala676Thr	rs1013102657	missense variant	-	NC_000012.12:g.114672047C>T	gnomAD
TBX3	O15119	p.Ala676Thr	rs1013102657	missense variant	-	NC_000012.12:g.114672047C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Ala678Val	rs1490395317	missense variant	-	NC_000012.12:g.114672040G>A	TOPMed,gnomAD
TBX3	O15119	p.Pro681Leu	rs756448415	missense variant	-	NC_000012.12:g.114672031G>A	ExAC,gnomAD
TBX3	O15119	p.Ala682Val	rs753103762	missense variant	-	NC_000012.12:g.114672028G>A	ExAC,gnomAD
TBX3	O15119	p.Ala685Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114672020C>T	NCI-TCGA
TBX3	O15119	p.Val686Met	rs762726425	missense variant	-	NC_000012.12:g.114672017C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Asp687Gly	rs772542059	missense variant	-	NC_000012.12:g.114672013T>C	ExAC
TBX3	O15119	p.Gly689Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114672008C>A	NCI-TCGA
TBX3	O15119	p.Ser690Phe	rs761791510	missense variant	-	NC_000012.12:g.114672004G>A	ExAC,gnomAD
TBX3	O15119	p.Leu692Ile	rs1424482515	missense variant	-	NC_000012.12:g.114671999G>T	gnomAD
TBX3	O15119	p.Asn693Lys	rs768750171	missense variant	-	NC_000012.12:g.114671994G>T	ExAC,gnomAD
TBX3	O15119	p.Asn693Ser	rs376267079	missense variant	-	NC_000012.12:g.114671995T>C	ESP,ExAC,gnomAD
TBX3	O15119	p.Asn693ThrPheSerTerUnkUnkUnk	COSM430413	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.114671995T>-	NCI-TCGA Cosmic
TBX3	O15119	p.Arg695Cys	rs373524965	missense variant	-	NC_000012.12:g.114671990G>A	ESP,ExAC,gnomAD
TBX3	O15119	p.Arg695Leu	rs772126133	missense variant	-	NC_000012.12:g.114671989C>A	ExAC,gnomAD
TBX3	O15119	p.Arg695His	rs772126133	missense variant	-	NC_000012.12:g.114671989C>T	ExAC,gnomAD
TBX3	O15119	p.Arg695His	rs772126133	missense variant	-	NC_000012.12:g.114671989C>T	NCI-TCGA,NCI-TCGA Cosmic
TBX3	O15119	p.Ser696Phe	rs1180900873	missense variant	-	NC_000012.12:g.114671986G>A	TOPMed,gnomAD
TBX3	O15119	p.Leu699Arg	rs1270648980	missense variant	-	NC_000012.12:g.114671977A>C	gnomAD
TBX3	O15119	p.Ser700Phe	rs947137864	missense variant	-	NC_000012.12:g.114671974G>A	gnomAD
TBX3	O15119	p.Ser701Cys	rs910200581	missense variant	-	NC_000012.12:g.114671971G>C	gnomAD
TBX3	O15119	p.Ser701Phe	rs910200581	missense variant	-	NC_000012.12:g.114671971G>A	gnomAD
TBX3	O15119	p.Ser701Thr	rs1206831594	missense variant	-	NC_000012.12:g.114671972A>T	gnomAD
TBX3	O15119	p.Ser702Asn	rs199572544	missense variant	-	NC_000012.12:g.114671968C>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ser702Ile	rs199572544	missense variant	-	NC_000012.12:g.114671968C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Met704Val	rs781632308	missense variant	-	NC_000012.12:g.114671963T>C	ExAC,gnomAD
TBX3	O15119	p.Met704Leu	rs781632308	missense variant	-	NC_000012.12:g.114671963T>G	ExAC,gnomAD
TBX3	O15119	p.Leu706Ser	rs972007244	missense variant	-	NC_000012.12:g.114671956A>G	gnomAD
TBX3	O15119	p.Ser707Leu	rs1327392865	missense variant	-	NC_000012.12:g.114671953G>A	gnomAD
TBX3	O15119	p.Leu710Pro	rs1380875741	missense variant	-	NC_000012.12:g.114671944A>G	gnomAD
TBX3	O15119	p.Ala712Glu	rs750109853	missense variant	-	NC_000012.12:g.114671938G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala712Val	rs750109853	missense variant	-	NC_000012.12:g.114671938G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Glu713Asp	rs761372590	missense variant	-	NC_000012.12:g.114671934C>G	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Lys714ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.114671931_114671932TT>-	NCI-TCGA
TBX3	O15119	p.Lys714Thr	rs1430734511	missense variant	-	NC_000012.12:g.114671932T>G	gnomAD
TBX3	O15119	p.Glu715Val	rs984149241	missense variant	-	NC_000012.12:g.114671929T>A	TOPMed
TBX3	O15119	p.Ala716Val	rs369538205	missense variant	-	NC_000012.12:g.114671926G>A	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala716Glu	rs369538205	missense variant	-	NC_000012.12:g.114671926G>T	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala716Gly	rs369538205	missense variant	-	NC_000012.12:g.114671926G>C	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Thr718Ser	rs775079618	missense variant	-	NC_000012.12:g.114671920G>C	ExAC,gnomAD
TBX3	O15119	p.Ser719Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114671918T>C	NCI-TCGA
TBX3	O15119	p.Ser719Asn	rs1445032845	missense variant	-	NC_000012.12:g.114671917C>T	gnomAD
TBX3	O15119	p.Glu720Lys	COSM3811131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.114671915C>T	NCI-TCGA Cosmic
TBX3	O15119	p.Gln722Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114671908T>A	NCI-TCGA
TBX3	O15119	p.Ser723Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.114671905C>A	NCI-TCGA
TBX3	O15119	p.Gln725Arg	rs771934403	missense variant	-	NC_000012.12:g.114671899T>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg726Gln	rs558420030	missense variant	-	NC_000012.12:g.114671896C>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg726Leu	rs558420030	missense variant	-	NC_000012.12:g.114671896C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg726Trp	rs1218875641	missense variant	-	NC_000012.12:g.114671897G>A	TOPMed,gnomAD
TBX3	O15119	p.Val728Ala	rs1326188945	missense variant	-	NC_000012.12:g.114671890A>G	gnomAD
TBX3	O15119	p.Ser729Arg	rs774611046	missense variant	-	NC_000012.12:g.114671886G>C	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Gly730Asp	rs1334054777	missense variant	-	NC_000012.12:g.114671884C>T	gnomAD
TBX3	O15119	p.Gly730Ser	rs1407667924	missense variant	-	NC_000012.12:g.114671885C>T	gnomAD
TBX3	O15119	p.Gly730Ser	rs1407667924	missense variant	-	NC_000012.12:g.114671885C>T	NCI-TCGA
TBX3	O15119	p.Leu731Phe	rs771183388	missense variant	-	NC_000012.12:g.114671880C>A	ExAC,gnomAD
TBX3	O15119	p.Ala733Thr	rs1351885173	missense variant	-	NC_000012.12:g.114671876C>T	TOPMed
TBX3	O15119	p.Lys734Thr	rs1402577995	missense variant	-	NC_000012.12:g.114671872T>G	TOPMed
TBX3	O15119	p.Pro735Ser	rs1419835703	missense variant	-	NC_000012.12:g.114671870G>A	gnomAD
TBX3	O15119	p.Pro735Arg	rs1245300799	missense variant	-	NC_000012.12:g.114671869G>C	gnomAD
TBX3	O15119	p.Ser738Ala	rs777891705	missense variant	-	NC_000012.12:g.114671861A>C	ExAC,gnomAD
TBX3	O15119	p.Ser738Phe	rs1389276999	missense variant	-	NC_000012.12:g.114671860G>A	gnomAD
TBX3	O15119	p.Arg739His	rs748697172	missense variant	-	NC_000012.12:g.114671857C>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg739Ser	rs770230836	missense variant	-	NC_000012.12:g.114671858G>T	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Arg739Cys	rs770230836	missense variant	-	NC_000012.12:g.114671858G>A	NCI-TCGA
TBX3	O15119	p.Arg739Cys	rs770230836	missense variant	-	NC_000012.12:g.114671858G>A	ExAC,TOPMed,gnomAD
TBX3	O15119	p.Ala741Gly	rs15033	missense variant	-	NC_000012.12:g.114671851G>C	TOPMed
TBX3	O15119	p.Ala741Val	rs15033	missense variant	-	NC_000012.12:g.114671851G>A	TOPMed
TBX3	O15119	p.Ala741Pro	rs138010059	missense variant	-	NC_000012.12:g.114671852C>G	ESP,ExAC,TOPMed,gnomAD
TBX3	O15119	p.Pro743Leu	rs751905018	missense variant	-	NC_000012.12:g.114671845G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu7Ter	COSM6041747	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.10567529C>A	NCI-TCGA Cosmic
MID1	O15344	p.Thr9Ile	rs1247267423	missense variant	-	NC_000023.11:g.10567522G>A	TOPMed,gnomAD
MID1	O15344	p.Ile12Val	rs1555905454	missense variant	-	NC_000023.11:g.10567514T>C	-
MID1	O15344	p.Ile12Val	RCV000500062	missense variant	-	NC_000023.11:g.10567514T>C	ClinVar
MID1	O15344	p.Pro20Leu	rs1199518877	missense variant	-	NC_000023.11:g.10567489G>A	gnomAD
MID1	O15344	p.Ala26Thr	COSM1112486	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567472C>T	NCI-TCGA Cosmic
MID1	O15344	p.Ser28Asn	rs1001131284	missense variant	-	NC_000023.11:g.10567465C>T	TOPMed
MID1	O15344	p.Ala34Val	rs1366033152	missense variant	-	NC_000023.11:g.10567447G>A	gnomAD
MID1	O15344	p.Ala34Thr	rs201407794	missense variant	-	NC_000023.11:g.10567448C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.His35Gln	rs781375702	missense variant	-	NC_000023.11:g.10567443G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.His35Asp	rs1230622754	missense variant	-	NC_000023.11:g.10567445G>C	gnomAD
MID1	O15344	p.His35Gln	COSM6184725	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567443G>T	NCI-TCGA Cosmic
MID1	O15344	p.Arg36His	rs1270080835	missense variant	-	NC_000023.11:g.10567441C>T	gnomAD
MID1	O15344	p.Arg36Leu	COSM6184726	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567441C>A	NCI-TCGA Cosmic
MID1	O15344	p.Ile37Asn	rs755238099	missense variant	-	NC_000023.11:g.10567438A>T	ExAC,gnomAD
MID1	O15344	p.His41Arg	rs747064197	missense variant	-	NC_000023.11:g.10567426T>C	ExAC,gnomAD
MID1	O15344	p.His41Pro	rs747064197	missense variant	-	NC_000023.11:g.10567426T>G	ExAC,gnomAD
MID1	O15344	p.Thr44Ile	rs758530606	missense variant	-	NC_000023.11:g.10567417G>A	ExAC
MID1	O15344	p.Thr44Ala	rs779960944	missense variant	-	NC_000023.11:g.10567418T>C	ExAC,gnomAD
MID1	O15344	p.Asn45Lys	rs996298206	missense variant	-	NC_000023.11:g.10567413G>T	TOPMed
MID1	O15344	p.Asn45Ser	rs753662440	missense variant	-	NC_000023.11:g.10567414T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu46Lys	rs1170099584	missense variant	-	NC_000023.11:g.10567412C>T	gnomAD
MID1	O15344	p.Ser47Phe	NCI-TCGA novel	missense variant	-	chrX:g.10567408G>A	NCI-TCGA
MID1	O15344	p.Ser50Cys	rs1388869848	missense variant	-	NC_000023.11:g.10567399G>C	TOPMed
MID1	O15344	p.Ile51Val	rs764098546	missense variant	-	NC_000023.11:g.10567397T>C	ExAC,gnomAD
MID1	O15344	p.Ala53Thr	rs147970950	missense variant	-	NC_000023.11:g.10567391C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala53Thr	rs147970950	missense variant	-	chrX:g.10567391C>T	NCI-TCGA
MID1	O15344	p.Thr58Ile	rs1379754388	missense variant	-	NC_000023.11:g.10567375G>A	TOPMed
MID1	O15344	p.Thr58Pro	rs767256051	missense variant	-	NC_000023.11:g.10567376T>G	ExAC,gnomAD
MID1	O15344	p.Arg60Trp	rs1470523331	missense variant	-	NC_000023.11:g.10567370G>A	TOPMed,gnomAD
MID1	O15344	p.Arg60Gln	rs759189233	missense variant	-	NC_000023.11:g.10567369C>T	1000Genomes
MID1	O15344	p.Thr64Asn	rs759223555	missense variant	-	NC_000023.11:g.10567357G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr64Ser	rs759223555	missense variant	-	NC_000023.11:g.10567357G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg68Gln	rs765748631	missense variant	-	chrX:g.10567345C>T	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.Arg68Gln	rs765748631	missense variant	-	NC_000023.11:g.10567345C>T	ExAC,gnomAD
MID1	O15344	p.Gly72Arg	rs1220297223	missense variant	-	NC_000023.11:g.10567334C>T	gnomAD
MID1	O15344	p.Gly72Trp	NCI-TCGA novel	missense variant	-	chrX:g.10567334C>A	NCI-TCGA
MID1	O15344	p.Lys74Arg	rs1266823249	missense variant	-	NC_000023.11:g.10567327T>C	TOPMed
MID1	O15344	p.Arg75His	COSM4105609	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567324C>T	NCI-TCGA Cosmic
MID1	O15344	p.Val77Ile	rs143416243	missense variant	-	NC_000023.11:g.10567319C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Val77Ile	rs143416243	missense variant	-	chrX:g.10567319C>T	NCI-TCGA
MID1	O15344	p.Val77Ile	RCV000499934	missense variant	-	NC_000023.11:g.10567319C>T	ClinVar
MID1	O15344	p.Gln80Ter	rs770387204	stop gained	-	NC_000023.11:g.10567310G>A	ExAC,gnomAD
MID1	O15344	p.Gln80His	rs1043173800	missense variant	-	NC_000023.11:g.10567308C>G	gnomAD
MID1	O15344	p.Asp84Asn	rs374851071	missense variant	-	NC_000023.11:g.10567298C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp84Glu	rs1441326944	missense variant	-	NC_000023.11:g.10567296G>T	TOPMed
MID1	O15344	p.Arg85Ser	rs149218019	missense variant	-	NC_000023.11:g.10567293C>A	ESP,TOPMed
MID1	O15344	p.Ala89Thr	rs1407207268	missense variant	-	NC_000023.11:g.10567283C>T	TOPMed
MID1	O15344	p.Ala89Thr	COSM456422	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567283C>T	NCI-TCGA Cosmic
MID1	O15344	p.Ser92Gly	NCI-TCGA novel	missense variant	-	chrX:g.10567274T>C	NCI-TCGA
MID1	O15344	p.Gly93Glu	rs1366901870	missense variant	-	NC_000023.11:g.10567270C>T	TOPMed
MID1	O15344	p.Gly93Arg	rs747187740	missense variant	-	NC_000023.11:g.10567271C>T	ExAC,gnomAD
MID1	O15344	p.Asn95Ser	rs780339406	missense variant	-	NC_000023.11:g.10567264T>C	ExAC,gnomAD
MID1	O15344	p.Glu99Gly	NCI-TCGA novel	missense variant	-	chrX:g.10567252T>C	NCI-TCGA
MID1	O15344	p.Thr100Asn	rs147727283	missense variant	-	NC_000023.11:g.10567249G>T	ESP
MID1	O15344	p.Thr100Ile	COSM6018343	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567249G>A	NCI-TCGA Cosmic
MID1	O15344	p.Arg101Cys	rs746029175	missense variant	-	NC_000023.11:g.10567247G>A	ExAC,gnomAD
MID1	O15344	p.Arg101His	rs202142461	missense variant	-	NC_000023.11:g.10567246C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg101His	rs202142461	missense variant	-	chrX:g.10567246C>T	NCI-TCGA
MID1	O15344	p.Arg101Ser	COSM6116928	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567247G>T	NCI-TCGA Cosmic
MID1	O15344	p.Arg102Gln	rs200381037	missense variant	-	NC_000023.11:g.10567243C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Trp	rs756170550	missense variant	-	NC_000023.11:g.10567244G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Trp	rs756170550	missense variant	-	chrX:g.10567244G>A	NCI-TCGA
MID1	O15344	p.Arg102Gln	rs200381037	missense variant	-	chrX:g.10567243C>T	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.Arg104Gln	rs199516073	missense variant	-	NC_000023.11:g.10567237C>T	TOPMed
MID1	O15344	p.Arg104Trp	rs767372071	missense variant	-	NC_000023.11:g.10567238G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala105Thr	rs1352145801	missense variant	-	NC_000023.11:g.10567235C>T	gnomAD
MID1	O15344	p.Ala105Asp	NCI-TCGA novel	missense variant	-	chrX:g.10567234G>T	NCI-TCGA
MID1	O15344	p.Asp107Glu	NCI-TCGA novel	missense variant	-	chrX:g.10567227G>T	NCI-TCGA
MID1	O15344	p.Ala108Gly	rs751104556	missense variant	-	NC_000023.11:g.10567225G>C	ExAC,gnomAD
MID1	O15344	p.Ala114Thr	RCV000478970	missense variant	-	NC_000023.11:g.10567208C>T	ClinVar
MID1	O15344	p.Ala114Thr	rs749995175	missense variant	-	NC_000023.11:g.10567208C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala114Ser	rs749995175	missense variant	-	NC_000023.11:g.10567208C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	RCV000011556	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10567205C>A	ClinVar
MID1	O15344	p.Glu115Gln	rs104894865	missense variant	-	NC_000023.11:g.10567205C>G	TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	rs104894865	stop gained	-	NC_000023.11:g.10567205C>A	TOPMed,gnomAD
MID1	O15344	p.Glu115Lys	rs104894865	missense variant	-	NC_000023.11:g.10567205C>T	TOPMed,gnomAD
MID1	O15344	p.Leu118Phe	rs1372240598	missense variant	-	NC_000023.11:g.10567196G>A	gnomAD
MID1	O15344	p.Gln120Lys	NCI-TCGA novel	missense variant	-	chrX:g.10567190G>T	NCI-TCGA
MID1	O15344	p.Gln124Arg	rs762272910	missense variant	-	NC_000023.11:g.10567177T>C	ExAC
MID1	O15344	p.Asp125Asn	COSM3843113	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567175C>T	NCI-TCGA Cosmic
MID1	O15344	p.Pro126Ser	rs1258308744	missense variant	-	NC_000023.11:g.10567172G>A	TOPMed
MID1	O15344	p.Ala130Thr	NCI-TCGA novel	missense variant	-	chrX:g.10567160C>T	NCI-TCGA
MID1	O15344	p.Lys132Asn	rs927091019	missense variant	-	NC_000023.11:g.10567152C>A	TOPMed
MID1	O15344	p.Glu138Ter	NCI-TCGA novel	stop gained	-	chrX:g.10567136C>A	NCI-TCGA
MID1	O15344	p.Asp143Asn	COSM4702169	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567121C>T	NCI-TCGA Cosmic
MID1	O15344	p.Glu144Ala	rs772398285	missense variant	-	NC_000023.11:g.10567117T>G	ExAC
MID1	O15344	p.Glu144Lys	rs371028819	missense variant	-	NC_000023.11:g.10567118C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu144Lys	rs371028819	missense variant	-	chrX:g.10567118C>T	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.Cys145Phe	COSM5616185	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567114C>A	NCI-TCGA Cosmic
MID1	O15344	p.Gly158Ser	rs748040551	missense variant	-	NC_000023.11:g.10567076C>T	ExAC,gnomAD
MID1	O15344	p.Arg160Pro	COSM1112482	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10567069C>G	NCI-TCGA Cosmic
MID1	O15344	p.Arg160Cys	NCI-TCGA novel	missense variant	-	chrX:g.10567070G>A	NCI-TCGA
MID1	O15344	p.Ile165Phe	rs1171605375	missense variant	-	NC_000023.11:g.10567055T>A	TOPMed
MID1	O15344	p.Pro166Leu	rs781279006	missense variant	-	NC_000023.11:g.10567051G>A	ExAC,gnomAD
MID1	O15344	p.Ser168Phe	rs1270408199	missense variant	-	NC_000023.11:g.10567045G>A	gnomAD
MID1	O15344	p.Arg171Trp	rs1464375714	missense variant	-	NC_000023.11:g.10567037G>A	TOPMed
MID1	O15344	p.Leu173Ter	NCI-TCGA novel	frameshift	-	chrX:g.10567032C>-	NCI-TCGA
MID1	O15344	p.Met174Ile	rs1316707756	missense variant	-	NC_000023.11:g.10567026C>T	gnomAD
MID1	O15344	p.Cys175Tyr	rs1290082018	missense variant	-	NC_000023.11:g.10567024C>T	gnomAD
MID1	O15344	p.Val183Met	rs1376311711	missense variant	-	NC_000023.11:g.10567001C>T	gnomAD
MID1	O15344	p.Asn184Lys	rs368927481	missense variant	-	NC_000023.11:g.10566996A>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Met185Arg	rs992236377	missense variant	-	NC_000023.11:g.10566994A>C	TOPMed
MID1	O15344	p.Cys187Ser	NCI-TCGA novel	missense variant	-	chrX:g.10566989A>T	NCI-TCGA
MID1	O15344	p.Cys195Tyr	NCI-TCGA novel	missense variant	-	chrX:g.10566964C>T	NCI-TCGA
MID1	O15344	p.Arg203Gln	rs754279780	missense variant	-	NC_000023.11:g.10566940C>T	ExAC,gnomAD
MID1	O15344	p.Arg203Trp	rs1452714186	missense variant	-	NC_000023.11:g.10566941G>A	gnomAD
MID1	O15344	p.Arg203Trp	COSM293834	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10566941G>A	NCI-TCGA Cosmic
MID1	O15344	p.Arg205Cys	rs965275724	missense variant	-	NC_000023.11:g.10566935G>A	gnomAD
MID1	O15344	p.Arg205His	rs752432972	missense variant	-	chrX:g.10566934C>T	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.Asp206Asn	COSM456421	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10566932C>T	NCI-TCGA Cosmic
MID1	O15344	p.His207Gln	rs1383446204	missense variant	-	NC_000023.11:g.10566927A>C	gnomAD
MID1	O15344	p.Ala210Thr	rs374812607	missense variant	-	NC_000023.11:g.10566920C>T	ESP,gnomAD
MID1	O15344	p.Ala211Val	rs1250379544	missense variant	-	NC_000023.11:g.10566916G>A	gnomAD
MID1	O15344	p.Asp217Asn	NCI-TCGA novel	missense variant	-	chrX:g.10566899C>T	NCI-TCGA
MID1	O15344	p.Leu219Ser	rs746168447	missense variant	-	NC_000023.11:g.10566892A>G	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Leu219Phe	NCI-TCGA novel	missense variant	-	chrX:g.10566891C>A	NCI-TCGA
MID1	O15344	p.Gln221Lys	rs774710060	missense variant	-	NC_000023.11:g.10523187G>T	ExAC
MID1	O15344	p.Asn222Lys	rs766764184	missense variant	-	NC_000023.11:g.10523182G>T	ExAC
MID1	O15344	p.Asn222Asp	rs1320017604	missense variant	-	NC_000023.11:g.10523184T>C	TOPMed
MID1	O15344	p.Leu223Ser	COSM1464595	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10523180A>G	NCI-TCGA Cosmic
MID1	O15344	p.Leu223Ter	NCI-TCGA novel	frameshift	-	chrX:g.10523180A>-	NCI-TCGA
MID1	O15344	p.Glu224Asp	rs1305140739	missense variant	-	NC_000023.11:g.10523176C>G	gnomAD
MID1	O15344	p.Ser225Asn	rs763101201	missense variant	-	NC_000023.11:g.10523174C>T	ExAC,gnomAD
MID1	O15344	p.Leu227Phe	rs750948750	missense variant	-	NC_000023.11:g.10523169G>A	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Asn229Tyr	rs769792761	missense variant	-	NC_000023.11:g.10523163T>A	ExAC,gnomAD
MID1	O15344	p.Asn229Ser	rs202082858	missense variant	-	NC_000023.11:g.10523162T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile231Phe	rs1250928460	missense variant	-	NC_000023.11:g.10523157T>A	TOPMed
MID1	O15344	p.Ile231Thr	rs1483794967	missense variant	-	NC_000023.11:g.10523156A>G	TOPMed
MID1	O15344	p.Lys232Gln	NCI-TCGA novel	missense variant	-	chrX:g.10523154T>G	NCI-TCGA
MID1	O15344	p.Asn234Lys	rs1405782698	missense variant	-	NC_000023.11:g.10523146G>C	TOPMed,gnomAD
MID1	O15344	p.Thr235Ile	NCI-TCGA novel	missense variant	-	chrX:g.10523144G>A	NCI-TCGA
MID1	O15344	p.Glu236Ter	NCI-TCGA novel	stop gained	-	chrX:g.10523142C>A	NCI-TCGA
MID1	O15344	p.Glu238Ter	rs387906719	stop gained	-	NC_000023.11:g.10523136C>A	-
MID1	O15344	p.Glu238Ter	RCV000022867	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10523136C>A	ClinVar
MID1	O15344	p.Glu238Gln	COSM1490292	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10523136C>G	NCI-TCGA Cosmic
MID1	O15344	p.Thr239Ala	rs771836382	missense variant	-	NC_000023.11:g.10523133T>C	ExAC
MID1	O15344	p.Ala242Asp	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>T	TOPMed,gnomAD
MID1	O15344	p.Ala242Ser	rs1361646972	missense variant	-	NC_000023.11:g.10523124C>A	gnomAD
MID1	O15344	p.Ala242Val	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>A	TOPMed,gnomAD
MID1	O15344	p.Leu244Phe	COSM1112376	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10523118G>A	NCI-TCGA Cosmic
MID1	O15344	p.Val253Ile	rs1480264678	missense variant	-	NC_000023.11:g.10495691C>T	gnomAD
MID1	O15344	p.Arg257Cys	rs755644971	missense variant	-	NC_000023.11:g.10495679G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg257His	rs747668073	missense variant	-	NC_000023.11:g.10495678C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala260Thr	rs781707475	missense variant	-	NC_000023.11:g.10495670C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys261Ter	RCV000178081	frameshift	-	NC_000023.11:g.10495667del	ClinVar
MID1	O15344	p.Glu264Gly	rs1229360357	missense variant	-	NC_000023.11:g.10495657T>C	TOPMed
MID1	O15344	p.Glu264Lys	NCI-TCGA novel	missense variant	-	chrX:g.10495658C>T	NCI-TCGA
MID1	O15344	p.Glu264Ter	NCI-TCGA novel	stop gained	-	chrX:g.10495658C>A	NCI-TCGA
MID1	O15344	p.Cys266Arg	VAR_013758	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Asp267Asn	COSM3556195	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10495649C>T	NCI-TCGA Cosmic
MID1	O15344	p.Leu268His	rs1326064853	missense variant	-	NC_000023.11:g.10495645A>T	gnomAD
MID1	O15344	p.Gln274Ter	NCI-TCGA novel	stop gained	-	chrX:g.10495628G>A	NCI-TCGA
MID1	O15344	p.Arg277Ter	rs1555895704	stop gained	-	NC_000023.11:g.10495619G>A	-
MID1	O15344	p.Arg277Gln	rs1261715086	missense variant	-	NC_000023.11:g.10495618C>T	TOPMed,gnomAD
MID1	O15344	p.Arg277Ter	RCV000659849	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10495619G>A	ClinVar
MID1	O15344	p.Gln278Arg	rs1222510983	missense variant	-	NC_000023.11:g.10495615T>C	gnomAD
MID1	O15344	p.Ile284Val	rs1171594481	missense variant	-	NC_000023.11:g.10495598T>C	gnomAD
MID1	O15344	p.Met290Ile	rs1203361279	missense variant	-	NC_000023.11:g.10482623C>G	gnomAD
MID1	O15344	p.Arg291Lys	rs774294547	missense variant	-	NC_000023.11:g.10482621C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg293His	rs899677777	missense variant	-	NC_000023.11:g.10482615C>T	TOPMed
MID1	O15344	p.Lys294Arg	rs1285865197	missense variant	-	NC_000023.11:g.10482612T>C	gnomAD
MID1	O15344	p.Leu295Pro	RCV000011558	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482609A>G	ClinVar
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt,dbSNP
MID1	O15344	p.Leu295Pro	VAR_025495	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	-	NC_000023.11:g.10482609A>G	-
MID1	O15344	p.Ile299Thr	rs1206390719	missense variant	-	NC_000023.11:g.10482597A>G	gnomAD
MID1	O15344	p.Cys302Ser	NCI-TCGA novel	missense variant	-	chrX:g.10482589A>T	NCI-TCGA
MID1	O15344	p.Cys305Arg	NCI-TCGA novel	missense variant	-	chrX:g.10482580A>G	NCI-TCGA
MID1	O15344	p.Ile306Val	rs1284334406	missense variant	-	NC_000023.11:g.10482577T>C	gnomAD
MID1	O15344	p.Glu307GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.10482573_10482574insC	NCI-TCGA
MID1	O15344	p.Arg308Gln	rs762802896	missense variant	-	NC_000023.11:g.10482570C>T	ExAC,gnomAD
MID1	O15344	p.Arg308Ter	RCV000659850	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482571del	ClinVar
MID1	O15344	p.Arg308Trp	rs149787593	missense variant	-	NC_000023.11:g.10482571G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile313LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.10482540_10482556TGTTCCGCTTGGGAGAT>-	NCI-TCGA
MID1	O15344	p.Ala316Glu	rs398123344	missense variant	-	NC_000023.11:g.10482546G>T	TOPMed
MID1	O15344	p.Ala316Val	rs398123344	missense variant	-	NC_000023.11:g.10482546G>A	TOPMed
MID1	O15344	p.Ala316Glu	RCV000078684	missense variant	-	NC_000023.11:g.10482546G>T	ClinVar
MID1	O15344	p.His318Gln	rs1399226678	missense variant	-	NC_000023.11:g.10482539G>C	gnomAD
MID1	O15344	p.Ser319Thr	COSM754825	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10482538A>T	NCI-TCGA Cosmic
MID1	O15344	p.His325Pro	rs1163978469	missense variant	-	NC_000023.11:g.10482519T>G	gnomAD
MID1	O15344	p.His325Tyr	COSM4105549	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10482520G>A	NCI-TCGA Cosmic
MID1	O15344	p.Arg327Cys	rs1483645727	missense variant	-	NC_000023.11:g.10482514G>A	TOPMed
MID1	O15344	p.Arg327His	NCI-TCGA novel	missense variant	-	chrX:g.10482513C>T	NCI-TCGA
MID1	O15344	p.Ala332Val	NCI-TCGA novel	missense variant	-	chrX:g.10482498G>A	NCI-TCGA
MID1	O15344	p.Asn334Ser	rs1205263035	missense variant	-	NC_000023.11:g.10482492T>C	TOPMed
MID1	O15344	p.Ile335Thr	COSM1112372	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10482489A>G	NCI-TCGA Cosmic
MID1	O15344	p.Glu337Lys	rs747456797	missense variant	-	NC_000023.11:g.10482484C>T	ExAC
MID1	O15344	p.Glu337Lys	rs747456797	missense variant	-	chrX:g.10482484C>T	NCI-TCGA
MID1	O15344	p.Ser340Pro	rs1205933022	missense variant	-	NC_000023.11:g.10474746A>G	gnomAD
MID1	O15344	p.Ser340Phe	NCI-TCGA novel	missense variant	-	chrX:g.10474745G>A	NCI-TCGA
MID1	O15344	p.Ser346Pro	rs1160642369	missense variant	-	NC_000023.11:g.10474728A>G	TOPMed,gnomAD
MID1	O15344	p.Gln347His	rs1239445670	missense variant	-	NC_000023.11:g.10474723C>A	gnomAD
MID1	O15344	p.Gln347His	NCI-TCGA novel	missense variant	-	chrX:g.10474723C>A	NCI-TCGA
MID1	O15344	p.Pro351Thr	COSM6184750	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10474713G>T	NCI-TCGA Cosmic
MID1	O15344	p.Ile353Thr	rs777949146	missense variant	-	NC_000023.11:g.10474706A>G	ExAC,gnomAD
MID1	O15344	p.Asn354Lys	rs756366511	missense variant	-	NC_000023.11:g.10474702G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn356Ser	rs748399428	missense variant	-	NC_000023.11:g.10474697T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr361Ser	rs750257635	missense variant	-	NC_000023.11:g.10474682G>C	ExAC,gnomAD
MID1	O15344	p.Thr361Ile	COSM1490291	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10474682G>A	NCI-TCGA Cosmic
MID1	O15344	p.Leu364Ile	rs765282014	missense variant	-	NC_000023.11:g.10474674A>T	ExAC,gnomAD
MID1	O15344	p.Phe366Cys	NCI-TCGA novel	missense variant	-	chrX:g.10474667A>C	NCI-TCGA
MID1	O15344	p.Arg368Gln	rs753740212	missense variant	-	NC_000023.11:g.10474661C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys370Thr	NCI-TCGA novel	missense variant	-	chrX:g.10474655T>G	NCI-TCGA
MID1	O15344	p.Asp377His	NCI-TCGA novel	missense variant	-	chrX:g.10474635C>G	NCI-TCGA
MID1	O15344	p.Tyr378His	rs1373430724	missense variant	-	NC_000023.11:g.10474632A>G	gnomAD
MID1	O15344	p.Tyr378Cys	NCI-TCGA novel	missense variant	-	chrX:g.10474631T>C	NCI-TCGA
MID1	O15344	p.Pro384His	NCI-TCGA novel	missense variant	-	chrX:g.10469831G>T	NCI-TCGA
MID1	O15344	p.Pro385Ala	rs200213912	missense variant	-	NC_000023.11:g.10469829G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr386Ile	rs1265184704	missense variant	-	NC_000023.11:g.10469825G>A	gnomAD
MID1	O15344	p.Arg388Thr	rs771515674	missense variant	-	NC_000023.11:g.10469819C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu389Lys	rs1486145790	missense variant	-	NC_000023.11:g.10469817C>T	gnomAD
MID1	O15344	p.Leu391Phe	NCI-TCGA novel	missense variant	-	chrX:g.10469811G>A	NCI-TCGA
MID1	O15344	p.Leu391_Cys392delinsArg	VAR_025496	deletion_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Cys392Tyr	rs1261435013	missense variant	-	NC_000023.11:g.10469807C>T	gnomAD
MID1	O15344	p.Ala394Pro	rs948448691	missense variant	-	NC_000023.11:g.10469802C>G	TOPMed
MID1	O15344	p.Ala394Pro	COSM71644	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10469802C>G	NCI-TCGA Cosmic
MID1	O15344	p.Ser395Ter	rs1210633665	stop gained	-	NC_000023.11:g.10469798G>T	gnomAD
MID1	O15344	p.Thr398Ala	rs1366882934	missense variant	-	NC_000023.11:g.10469790T>C	gnomAD
MID1	O15344	p.Thr400Ala	rs1423462435	missense variant	-	NC_000023.11:g.10469784T>C	gnomAD
MID1	O15344	p.Val401Ala	rs1169601679	missense variant	-	NC_000023.11:g.10469780A>G	gnomAD
MID1	O15344	p.Asp406Gly	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>C	TOPMed,gnomAD
MID1	O15344	p.Asp406Val	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>A	TOPMed,gnomAD
MID1	O15344	p.Asp407His	rs768610642	missense variant	-	NC_000023.11:g.10469763C>G	ExAC,gnomAD
MID1	O15344	p.Ser410Thr	rs1280587582	missense variant	-	NC_000023.11:g.10469753C>G	TOPMed
MID1	O15344	p.Val411Met	rs778696153	missense variant	-	NC_000023.11:g.10469751C>T	ExAC,gnomAD
MID1	O15344	p.Thr419Ile	rs1466434678	missense variant	-	NC_000023.11:g.10469726G>A	TOPMed
MID1	O15344	p.Gly423Arg	rs1002864796	missense variant	-	NC_000023.11:g.10469715C>T	TOPMed
MID1	O15344	p.Ala425Thr	rs1337827121	missense variant	-	NC_000023.11:g.10469709C>T	gnomAD
MID1	O15344	p.Val427Ile	rs755985917	missense variant	-	NC_000023.11:g.10469703C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val427Ile	rs755985917	missense variant	-	chrX:g.10469703C>T	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.Val428Ile	rs1280989248	missense variant	-	NC_000023.11:g.10469700C>T	TOPMed,gnomAD
MID1	O15344	p.Val428Ile	RCV000729030	missense variant	-	NC_000023.11:g.10469700C>T	ClinVar
MID1	O15344	p.Ser429Asn	rs768937441	missense variant	-	NC_000023.11:g.10459807C>T	ExAC,gnomAD
MID1	O15344	p.Ser433Leu	rs780880323	missense variant	-	NC_000023.11:g.10459795G>A	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser433Leu	rs780880323	missense variant	-	chrX:g.10459795G>A	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.AlaAsp434AlaAspTerUnk	rs786200982	stop gained	-	NC_000023.11:g.10459788_10459791dup	-
MID1	O15344	p.Asp435His	COSM1315090	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10459790C>G	NCI-TCGA Cosmic
MID1	O15344	p.Ser436Ter	RCV000180150	nonsense	-	NC_000023.11:g.10459788_10459791dup	ClinVar
MID1	O15344	p.Met438del	VAR_013759	inframe_deletion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Val440Leu	COSM1112367	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10459775C>A	NCI-TCGA Cosmic
MID1	O15344	p.Asn442Asp	NCI-TCGA novel	missense variant	-	chrX:g.10459769T>C	NCI-TCGA
MID1	O15344	p.His447Tyr	rs1320558372	missense variant	-	NC_000023.11:g.10459754G>A	gnomAD
MID1	O15344	p.His447Gln	rs772124520	missense variant	-	NC_000023.11:g.10459752G>C	ExAC,gnomAD
MID1	O15344	p.Tyr448His	RCV000719817	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.10459751A>G	ClinVar
MID1	O15344	p.Thr449Met	rs201454444	missense variant	-	NC_000023.11:g.10459747G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly452Ser	RCV000657884	missense variant	-	NC_000023.11:g.10459739C>T	ClinVar
MID1	O15344	p.Gly452Ser	rs1556004404	missense variant	-	NC_000023.11:g.10459739C>T	-
MID1	O15344	p.Gln454Arg	RCV000659851	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459732T>C	ClinVar
MID1	O15344	p.Gly456Ser	rs746602154	missense variant	-	NC_000023.11:g.10459727C>T	ExAC,gnomAD
MID1	O15344	p.Thr457Ile	rs1335896786	missense variant	-	NC_000023.11:g.10459723G>A	TOPMed
MID1	O15344	p.Met462Ile	rs1291943707	missense variant	-	NC_000023.11:g.10459707C>T	gnomAD
MID1	O15344	p.Met462Thr	rs1487662491	missense variant	-	NC_000023.11:g.10459708A>G	gnomAD
MID1	O15344	p.Val463Ala	NCI-TCGA novel	missense variant	-	chrX:g.10459705A>G	NCI-TCGA
MID1	O15344	p.Lys464Arg	rs757888585	missense variant	-	NC_000023.11:g.10459702T>C	ExAC,gnomAD
MID1	O15344	p.Lys464Asn	NCI-TCGA novel	missense variant	-	chrX:g.10459701C>A	NCI-TCGA
MID1	O15344	p.Ala465Pro	RCV000659852	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459700C>G	ClinVar
MID1	O15344	p.Ala465Pro	rs1556004366	missense variant	-	NC_000023.11:g.10459700C>G	-
MID1	O15344	p.Asn467Ile	NCI-TCGA novel	missense variant	-	chrX:g.10459693T>A	NCI-TCGA
MID1	O15344	p.Gln468Arg	rs967412425	missense variant	-	NC_000023.11:g.10459690T>C	TOPMed
MID1	O15344	p.Ala469Ser	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>A	TOPMed,gnomAD
MID1	O15344	p.Ala469Thr	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>T	TOPMed,gnomAD
MID1	O15344	p.Ala469Val	rs1311942233	missense variant	-	NC_000023.11:g.10459687G>A	gnomAD
MID1	O15344	p.Ala469Val	NCI-TCGA novel	missense variant	-	chrX:g.10459687G>A	NCI-TCGA
MID1	O15344	p.Gly470Asp	rs761537930	missense variant	-	NC_000023.11:g.10459684C>T	gnomAD
MID1	O15344	p.Ser471Gly	rs749981475	missense variant	-	NC_000023.11:g.10459682T>C	ExAC,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser471Cys	rs749981475	missense variant	-	NC_000023.11:g.10459682T>A	ExAC,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg472His	rs370465458	missense variant	-	NC_000023.11:g.10459678C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg472Cys	rs1339922842	missense variant	-	NC_000023.11:g.10459679G>A	TOPMed,gnomAD
MID1	O15344	p.Ser473Asn	rs200124370	missense variant	-	NC_000023.11:g.10459675C>T	1000Genomes,ExAC
MID1	O15344	p.Glu475AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.10459668C>-	NCI-TCGA
MID1	O15344	p.Leu479Ter	NCI-TCGA novel	stop gained	-	chrX:g.10459657A>T	NCI-TCGA
MID1	O15344	p.Asn482Ser	NCI-TCGA novel	missense variant	-	chrX:g.10459648T>C	NCI-TCGA
MID1	O15344	p.Ser483Ter	RCV000180149	frameshift	-	NC_000023.11:g.10459649_10459652dup	ClinVar
MID1	O15344	p.Pro485Ter	RCV000659853	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455072del	ClinVar
MID1	O15344	p.Lys491Thr	rs758089179	missense variant	-	NC_000023.11:g.10455053T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys491Arg	rs758089179	missense variant	-	NC_000023.11:g.10455053T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.His494Tyr	rs373136825	missense variant	-	NC_000023.11:g.10455045G>A	ESP,TOPMed
MID1	O15344	p.Arg495Ter	rs745554420	stop gained	-	NC_000023.11:g.10455042G>A	ExAC,gnomAD
MID1	O15344	p.Arg495Ter	RCV000659854	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Ter	RCV000627230	nonsense	-	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Gln	rs1430919712	missense variant	-	NC_000023.11:g.10455041C>T	TOPMed,gnomAD
MID1	O15344	p.Val499Met	COSM3556163	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10455030C>T	NCI-TCGA Cosmic
MID1	O15344	p.His501Arg	NCI-TCGA novel	missense variant	-	chrX:g.10455023T>C	NCI-TCGA
MID1	O15344	p.Leu504Phe	rs370948485	missense variant	-	NC_000023.11:g.10455013C>G	ESP,ExAC,gnomAD
MID1	O15344	p.Thr505Arg	rs145973480	missense variant	-	NC_000023.11:g.10455011G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu507Gln	COSM6184751	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10455006C>G	NCI-TCGA Cosmic
MID1	O15344	p.Glu507Lys	NCI-TCGA novel	missense variant	-	chrX:g.10455006C>T	NCI-TCGA
MID1	O15344	p.Arg508His	rs376241755	missense variant	-	NC_000023.11:g.10455002C>T	ESP,ExAC,gnomAD
MID1	O15344	p.Arg508Cys	rs1401866525	missense variant	-	NC_000023.11:g.10455003G>A	TOPMed
MID1	O15344	p.Arg508Leu	NCI-TCGA novel	missense variant	-	chrX:g.10455002C>A	NCI-TCGA
MID1	O15344	p.Glu510Gly	rs1225629827	missense variant	-	NC_000023.11:g.10454996T>C	gnomAD
MID1	O15344	p.Ser513Pro	rs794727956	missense variant	-	NC_000023.11:g.10454988A>G	-
MID1	O15344	p.Ser513Pro	RCV000180496	missense variant	-	NC_000023.11:g.10454988A>G	ClinVar
MID1	O15344	p.Lys514Gln	NCI-TCGA novel	missense variant	-	chrX:g.10454985T>G	NCI-TCGA
MID1	O15344	p.Thr518Ter	RCV000011559	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454978_10454979CT[1]	ClinVar
MID1	O15344	p.Pro519Ala	NCI-TCGA novel	missense variant	-	chrX:g.10454970G>C	NCI-TCGA
MID1	O15344	p.Glu520Ter	RCV000011554	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454967dup	ClinVar
MID1	O15344	p.Arg521His	rs369909019	missense variant	-	NC_000023.11:g.10454963C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521Cys	rs149482288	missense variant	-	NC_000023.11:g.10454964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521Cys	RCV000180497	missense variant	-	NC_000023.11:g.10454964G>A	ClinVar
MID1	O15344	p.Arg521Leu	rs369909019	missense variant	-	NC_000023.11:g.10454963C>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521His	RCV000490086	missense variant	-	NC_000023.11:g.10454963C>T	ClinVar
MID1	O15344	p.Thr523Ala	rs774726726	missense variant	-	NC_000023.11:g.10454958T>C	ExAC
MID1	O15344	p.Gly529Ala	rs1339873549	missense variant	-	NC_000023.11:g.10454939C>G	TOPMed
MID1	O15344	p.Val530Ile	rs763005757	missense variant	-	NC_000023.11:g.10454937C>T	ExAC,gnomAD
MID1	O15344	p.Ala531Val	rs776614617	missense variant	-	NC_000023.11:g.10454933G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn533Thr	rs1279961984	missense variant	-	NC_000023.11:g.10454927T>G	TOPMed
MID1	O15344	p.Val534Met	rs1338268932	missense variant	-	NC_000023.11:g.10454925C>T	gnomAD
MID1	O15344	p.Val534Gly	rs1464286489	missense variant	-	NC_000023.11:g.10454924A>C	gnomAD
MID1	O15344	p.Val534insValPheIleAspSerGlyArgHisLeu	VAR_013760	inframe_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Phe535Cys	NCI-TCGA novel	missense variant	-	chrX:g.10454921A>C	NCI-TCGA
MID1	O15344	p.Ile536Thr	VAR_013761	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ser538Thr	rs775227924	missense variant	-	NC_000023.11:g.10454912C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser538Ter	RCV000659855	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454916_10454919dup	ClinVar
MID1	O15344	p.Gly539Asp	COSM1464593	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10454909C>T	NCI-TCGA Cosmic
MID1	O15344	p.Arg540Trp	rs1420374178	missense variant	-	NC_000023.11:g.10454907G>A	gnomAD
MID1	O15344	p.Arg540Trp	NCI-TCGA novel	missense variant	-	chrX:g.10454907G>A	NCI-TCGA
MID1	O15344	p.Val546Ile	rs771878559	missense variant	-	NC_000023.11:g.10454889C>T	ExAC,gnomAD
MID1	O15344	p.Ile555Leu	rs398123341	missense variant	-	NC_000023.11:g.10449709T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Val	rs398123341	missense variant	-	NC_000023.11:g.10449709T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Leu	RCV000078677	missense variant	-	NC_000023.11:g.10449709T>G	ClinVar
MID1	O15344	p.Ile555Val	RCV000659856	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449709T>C	ClinVar
MID1	O15344	p.Leu557Ile	COSM1112366	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10449703G>T	NCI-TCGA Cosmic
MID1	O15344	p.Tyr559His	NCI-TCGA novel	missense variant	-	chrX:g.10449697A>G	NCI-TCGA
MID1	O15344	p.Lys560Arg	RCV000440069	missense variant	-	NC_000023.11:g.10449693T>C	ClinVar
MID1	O15344	p.Lys560Arg	rs1057520313	missense variant	-	NC_000023.11:g.10449693T>C	-
MID1	O15344	p.Ser561Pro	NCI-TCGA novel	missense variant	-	chrX:g.10449691A>G	NCI-TCGA
MID1	O15344	p.Ala562Val	rs1489299753	missense variant	-	NC_000023.11:g.10449687G>A	gnomAD
MID1	O15344	p.Pro563Leu	rs750506306	missense variant	-	NC_000023.11:g.10449684G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Pro563Leu	rs750506306	missense variant	-	chrX:g.10449684G>A	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.Lys564Gln	rs1184266835	missense variant	-	NC_000023.11:g.10449682T>G	gnomAD
MID1	O15344	p.His565Asn	rs1360715026	missense variant	-	NC_000023.11:g.10449679G>T	gnomAD
MID1	O15344	p.Ile568Thr	rs775422871	missense variant	-	NC_000023.11:g.10449669A>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile568Val	rs1387762588	missense variant	-	NC_000023.11:g.10449670T>C	TOPMed
MID1	O15344	p.Asn571Tyr	NCI-TCGA novel	missense variant	-	chrX:g.10449661T>A	NCI-TCGA
MID1	O15344	p.Trp575Ter	rs1556001968	stop gained	-	NC_000023.11:g.10449647C>T	-
MID1	O15344	p.Trp575Ter	RCV000659857	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449647C>T	ClinVar
MID1	O15344	p.Ala576Val	rs773980150	missense variant	-	NC_000023.11:g.10449645G>A	ExAC,gnomAD
MID1	O15344	p.Ala576Val	rs773980150	missense variant	-	chrX:g.10449645G>A	NCI-TCGA
MID1	O15344	p.Arg579Cys	rs770539991	missense variant	-	NC_000023.11:g.10449637G>A	ExAC,gnomAD
MID1	O15344	p.Arg579His	rs761774660	missense variant	-	NC_000023.11:g.10449636C>T	ExAC,gnomAD
MID1	O15344	p.Arg579Cys	rs770539991	missense variant	-	chrX:g.10449637G>A	NCI-TCGA
MID1	O15344	p.Asn583Ser	rs1457192745	missense variant	-	NC_000023.11:g.10449624T>C	gnomAD
MID1	O15344	p.Val586Met	rs777097030	missense variant	-	NC_000023.11:g.10449616C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val586Leu	rs777097030	missense variant	-	NC_000023.11:g.10449616C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg587Thr	rs748598463	missense variant	-	NC_000023.11:g.10449612C>G	ExAC,gnomAD
MID1	O15344	p.His588Asn	rs760349065	missense variant	-	NC_000023.11:g.10449610G>T	1000Genomes
MID1	O15344	p.Asn589Asp	rs1556001939	missense variant	-	NC_000023.11:g.10449607T>C	-
MID1	O15344	p.Asn589Asp	RCV000626680	missense variant	Hypertelorism	NC_000023.11:g.10449607T>C	ClinVar
MID1	O15344	p.Ile595Leu	rs1329135216	missense variant	-	NC_000023.11:g.10449589T>G	TOPMed
MID1	O15344	p.Pro597Ser	rs988941083	missense variant	-	NC_000023.11:g.10449583G>A	TOPMed
MID1	O15344	p.Ala598Val	rs369262421	missense variant	-	NC_000023.11:g.10449579G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala598Gly	rs369262421	missense variant	-	NC_000023.11:g.10449579G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Pro599Ala	rs1352607382	missense variant	-	NC_000023.11:g.10449577G>C	TOPMed
MID1	O15344	p.His600Ter	RCV000173680	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.His600Tyr	rs1802191	missense variant	-	NC_000023.11:g.10449574G>A	TOPMed,gnomAD
MID1	O15344	p.His600Asp	rs1802191	missense variant	-	NC_000023.11:g.10449574G>C	TOPMed,gnomAD
MID1	O15344	p.His600Ter	RCV000790799	frameshift	-	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.His600ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.10449574G>-	NCI-TCGA
MID1	O15344	p.Leu601Ile	NCI-TCGA novel	missense variant	-	chrX:g.10449571G>T	NCI-TCGA
MID1	O15344	p.Arg602Gln	rs758507303	missense variant	-	NC_000023.11:g.10449567C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg602Trp	rs780389420	missense variant	-	NC_000023.11:g.10449568G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg603His	rs750682655	missense variant	-	NC_000023.11:g.10449564C>T	ExAC,gnomAD
MID1	O15344	p.Arg603His	rs750682655	missense variant	-	chrX:g.10449564C>T	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.Val604Leu	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>A	TOPMed,gnomAD
MID1	O15344	p.Val604Met	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>T	TOPMed,gnomAD
MID1	O15344	p.Tyr610Cys	NCI-TCGA novel	missense variant	-	chrX:g.10449543T>C	NCI-TCGA
MID1	O15344	p.Asn612Ser	rs757366426	missense variant	-	NC_000023.11:g.10449537T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly613Ser	rs1205719863	missense variant	-	NC_000023.11:g.10449535C>T	TOPMed
MID1	O15344	p.Ser614Phe	rs767500744	missense variant	-	NC_000023.11:g.10449531G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile615Val	rs1473385224	missense variant	-	NC_000023.11:g.10449529T>C	TOPMed
MID1	O15344	p.Ala616Thr	rs1169366982	missense variant	-	NC_000023.11:g.10449526C>T	gnomAD
MID1	O15344	p.Ala616Thr	COSM5513751	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10449526C>T	NCI-TCGA Cosmic
MID1	O15344	p.Tyr618Phe	rs1421698210	missense variant	-	NC_000023.11:g.10449519T>A	gnomAD
MID1	O15344	p.Ala620Ser	rs766217789	missense variant	-	NC_000023.11:g.10449514C>A	ExAC,gnomAD
MID1	O15344	p.Ala620Val	rs762453585	missense variant	-	NC_000023.11:g.10449513G>A	ExAC,gnomAD
MID1	O15344	p.Ser623Tyr	rs1197360854	missense variant	-	NC_000023.11:g.10449504G>T	gnomAD
MID1	O15344	p.Leu626Pro	RCV000011555	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449495A>G	ClinVar
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	-	NC_000023.11:g.10449495A>G	-
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt,dbSNP
MID1	O15344	p.Leu626Pro	VAR_013762	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt
MID1	O15344	p.Leu626Phe	rs772922068	missense variant	-	NC_000023.11:g.10449496G>A	ExAC,gnomAD
MID1	O15344	p.Tyr627Ter	RCV000659858	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449491G>T	ClinVar
MID1	O15344	p.Tyr627Ter	rs1556001856	stop gained	-	NC_000023.11:g.10449491G>T	-
MID1	O15344	p.Thr628Asn	rs769182755	missense variant	-	NC_000023.11:g.10449489G>T	ExAC,gnomAD
MID1	O15344	p.Asp630Asn	rs150291968	missense variant	-	NC_000023.11:g.10449484C>T	ESP,TOPMed
MID1	O15344	p.Asp630Asn	rs150291968	missense variant	-	chrX:g.10449484C>T	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.Asp630Asn	RCV000780411	missense variant	-	NC_000023.11:g.10449484C>T	ClinVar
MID1	O15344	p.Val631Phe	rs769324197	missense variant	-	NC_000023.11:g.10449481C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val631Ile	rs769324197	missense variant	-	NC_000023.11:g.10449481C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val631Ile	rs769324197	missense variant	-	chrX:g.10449481C>T	NCI-TCGA,NCI-TCGA Cosmic
MID1	O15344	p.Ala632Thr	rs747547954	missense variant	-	NC_000023.11:g.10449478C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Ser	rs747547954	missense variant	-	NC_000023.11:g.10449478C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Phe633Cys	NCI-TCGA novel	missense variant	-	chrX:g.10449474A>C	NCI-TCGA
MID1	O15344	p.Ala634Val	rs944621690	missense variant	-	NC_000023.11:g.10449471G>A	TOPMed
MID1	O15344	p.Ala634Val	COSM1112363	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10449471G>A	NCI-TCGA Cosmic
MID1	O15344	p.Gln635Arg	rs758806928	missense variant	-	NC_000023.11:g.10449468T>C	ExAC,gnomAD
MID1	O15344	p.Gln635Lys	NCI-TCGA novel	missense variant	-	chrX:g.10449469G>T	NCI-TCGA
MID1	O15344	p.Cys638Trp	rs746014431	missense variant	-	NC_000023.11:g.10449458G>C	ExAC,gnomAD
MID1	O15344	p.Pro639Ser	rs1333314044	missense variant	-	NC_000023.11:g.10449457G>A	gnomAD
MID1	O15344	p.Pro639Leu	rs779265828	missense variant	-	NC_000023.11:g.10449456G>A	ExAC,gnomAD
MID1	O15344	p.Thr640Ter	RCV000754789	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449458del	ClinVar
MID1	O15344	p.Trp644Ter	NCI-TCGA novel	stop gained	-	chrX:g.10449441C>T	NCI-TCGA
MID1	O15344	p.Lys646Arg	rs757315836	missense variant	-	NC_000023.11:g.10449435T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys646Met	rs757315836	missense variant	-	NC_000023.11:g.10449435T>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr649Met	COSM1569796	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.10449426G>A	NCI-TCGA Cosmic
MID1	O15344	p.Ile650Thr	rs1341135609	missense variant	-	NC_000023.11:g.10449423A>G	TOPMed
MID1	O15344	p.Ile650Ser	NCI-TCGA novel	missense variant	-	chrX:g.10449423A>C	NCI-TCGA
MID1	O15344	p.Thr652Asn	NCI-TCGA novel	missense variant	-	chrX:g.10449417G>T	NCI-TCGA
MID1	O15344	p.Ile656Val	rs371705269	missense variant	-	NC_000023.11:g.10449406T>C	ESP,ExAC,TOPMed
MID1	O15344	p.Asp658Gly	NCI-TCGA novel	missense variant	-	chrX:g.10449399T>C	NCI-TCGA
MID1	O15344	p.His659Tyr	rs751510252	missense variant	-	NC_000023.11:g.10449397G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp661Glu	rs767075372	missense variant	-	NC_000023.11:g.10449389G>C	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Thr663Ile	rs138558359	missense variant	-	NC_000023.11:g.10449384G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr663Ile	RCV000078679	missense variant	-	NC_000023.11:g.10449384G>A	ClinVar
MID1	O15344	p.Gln665His	rs1438198955	missense variant	-	NC_000023.11:g.10449377C>G	gnomAD
MID1	O15344	p.Gln665Lys	NCI-TCGA novel	missense variant	-	chrX:g.10449379G>T	NCI-TCGA
MID1	O15344	p.Pro667Leu	rs147106995	missense variant	-	NC_000023.11:g.10449372G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Pro667Leu	RCV000659859	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449372G>A	ClinVar
MID1	O15344	p.Thr9Ile	rs1247267423	missense variant	-	NC_000023.11:g.10567522G>A	TOPMed,gnomAD
MID1	O15344	p.Ile12Val	rs1555905454	missense variant	-	NC_000023.11:g.10567514T>C	-
MID1	O15344	p.Ile12Val	RCV000500062	missense variant	-	NC_000023.11:g.10567514T>C	ClinVar
MID1	O15344	p.Pro20Leu	rs1199518877	missense variant	-	NC_000023.11:g.10567489G>A	gnomAD
MID1	O15344	p.Ser28Asn	rs1001131284	missense variant	-	NC_000023.11:g.10567465C>T	TOPMed
MID1	O15344	p.Ala34Val	rs1366033152	missense variant	-	NC_000023.11:g.10567447G>A	gnomAD
MID1	O15344	p.Ala34Thr	rs201407794	missense variant	-	NC_000023.11:g.10567448C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.His35Asp	rs1230622754	missense variant	-	NC_000023.11:g.10567445G>C	gnomAD
MID1	O15344	p.His35Gln	rs781375702	missense variant	-	NC_000023.11:g.10567443G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg36His	rs1270080835	missense variant	-	NC_000023.11:g.10567441C>T	gnomAD
MID1	O15344	p.Ile37Asn	rs755238099	missense variant	-	NC_000023.11:g.10567438A>T	ExAC,gnomAD
MID1	O15344	p.His41Pro	rs747064197	missense variant	-	NC_000023.11:g.10567426T>G	ExAC,gnomAD
MID1	O15344	p.His41Arg	rs747064197	missense variant	-	NC_000023.11:g.10567426T>C	ExAC,gnomAD
MID1	O15344	p.Thr44Ile	rs758530606	missense variant	-	NC_000023.11:g.10567417G>A	ExAC
MID1	O15344	p.Thr44Ala	rs779960944	missense variant	-	NC_000023.11:g.10567418T>C	ExAC,gnomAD
MID1	O15344	p.Asn45Lys	rs996298206	missense variant	-	NC_000023.11:g.10567413G>T	TOPMed
MID1	O15344	p.Asn45Ser	rs753662440	missense variant	-	NC_000023.11:g.10567414T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu46Lys	rs1170099584	missense variant	-	NC_000023.11:g.10567412C>T	gnomAD
MID1	O15344	p.Ser50Cys	rs1388869848	missense variant	-	NC_000023.11:g.10567399G>C	TOPMed
MID1	O15344	p.Ile51Val	rs764098546	missense variant	-	NC_000023.11:g.10567397T>C	ExAC,gnomAD
MID1	O15344	p.Ala53Thr	rs147970950	missense variant	-	NC_000023.11:g.10567391C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr58Ile	rs1379754388	missense variant	-	NC_000023.11:g.10567375G>A	TOPMed
MID1	O15344	p.Thr58Pro	rs767256051	missense variant	-	NC_000023.11:g.10567376T>G	ExAC,gnomAD
MID1	O15344	p.Arg60Trp	rs1470523331	missense variant	-	NC_000023.11:g.10567370G>A	TOPMed,gnomAD
MID1	O15344	p.Arg60Gln	rs759189233	missense variant	-	NC_000023.11:g.10567369C>T	1000Genomes
MID1	O15344	p.Thr64Ser	rs759223555	missense variant	-	NC_000023.11:g.10567357G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr64Asn	rs759223555	missense variant	-	NC_000023.11:g.10567357G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg68Gln	rs765748631	missense variant	-	NC_000023.11:g.10567345C>T	ExAC,gnomAD
MID1	O15344	p.Gly72Arg	rs1220297223	missense variant	-	NC_000023.11:g.10567334C>T	gnomAD
MID1	O15344	p.Lys74Arg	rs1266823249	missense variant	-	NC_000023.11:g.10567327T>C	TOPMed
MID1	O15344	p.Val77Ile	RCV000499934	missense variant	-	NC_000023.11:g.10567319C>T	ClinVar
MID1	O15344	p.Val77Ile	rs143416243	missense variant	-	NC_000023.11:g.10567319C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gln80Ter	rs770387204	stop gained	-	NC_000023.11:g.10567310G>A	ExAC,gnomAD
MID1	O15344	p.Gln80His	rs1043173800	missense variant	-	NC_000023.11:g.10567308C>G	gnomAD
MID1	O15344	p.Asp84Asn	rs374851071	missense variant	-	NC_000023.11:g.10567298C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp84Glu	rs1441326944	missense variant	-	NC_000023.11:g.10567296G>T	TOPMed
MID1	O15344	p.Arg85Ser	rs149218019	missense variant	-	NC_000023.11:g.10567293C>A	ESP,TOPMed
MID1	O15344	p.Ala89Thr	rs1407207268	missense variant	-	NC_000023.11:g.10567283C>T	TOPMed
MID1	O15344	p.Gly93Glu	rs1366901870	missense variant	-	NC_000023.11:g.10567270C>T	TOPMed
MID1	O15344	p.Gly93Arg	rs747187740	missense variant	-	NC_000023.11:g.10567271C>T	ExAC,gnomAD
MID1	O15344	p.Asn95Ser	rs780339406	missense variant	-	NC_000023.11:g.10567264T>C	ExAC,gnomAD
MID1	O15344	p.Thr100Asn	rs147727283	missense variant	-	NC_000023.11:g.10567249G>T	ESP
MID1	O15344	p.Arg101Cys	rs746029175	missense variant	-	NC_000023.11:g.10567247G>A	ExAC,gnomAD
MID1	O15344	p.Arg101His	rs202142461	missense variant	-	NC_000023.11:g.10567246C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Gln	rs200381037	missense variant	-	NC_000023.11:g.10567243C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Trp	rs756170550	missense variant	-	NC_000023.11:g.10567244G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg104Trp	rs767372071	missense variant	-	NC_000023.11:g.10567238G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg104Gln	rs199516073	missense variant	-	NC_000023.11:g.10567237C>T	TOPMed
MID1	O15344	p.Ala105Thr	rs1352145801	missense variant	-	NC_000023.11:g.10567235C>T	gnomAD
MID1	O15344	p.Ala108Gly	rs751104556	missense variant	-	NC_000023.11:g.10567225G>C	ExAC,gnomAD
MID1	O15344	p.Ala114Thr	RCV000478970	missense variant	-	NC_000023.11:g.10567208C>T	ClinVar
MID1	O15344	p.Ala114Ser	rs749995175	missense variant	-	NC_000023.11:g.10567208C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala114Thr	rs749995175	missense variant	-	NC_000023.11:g.10567208C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	RCV000011556	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10567205C>A	ClinVar
MID1	O15344	p.Glu115Gln	rs104894865	missense variant	-	NC_000023.11:g.10567205C>G	TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	rs104894865	stop gained	-	NC_000023.11:g.10567205C>A	TOPMed,gnomAD
MID1	O15344	p.Glu115Lys	rs104894865	missense variant	-	NC_000023.11:g.10567205C>T	TOPMed,gnomAD
MID1	O15344	p.Leu118Phe	rs1372240598	missense variant	-	NC_000023.11:g.10567196G>A	gnomAD
MID1	O15344	p.Gln124Arg	rs762272910	missense variant	-	NC_000023.11:g.10567177T>C	ExAC
MID1	O15344	p.Pro126Ser	rs1258308744	missense variant	-	NC_000023.11:g.10567172G>A	TOPMed
MID1	O15344	p.Lys132Asn	rs927091019	missense variant	-	NC_000023.11:g.10567152C>A	TOPMed
MID1	O15344	p.Glu144Ala	rs772398285	missense variant	-	NC_000023.11:g.10567117T>G	ExAC
MID1	O15344	p.Glu144Lys	rs371028819	missense variant	-	NC_000023.11:g.10567118C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly158Ser	rs748040551	missense variant	-	NC_000023.11:g.10567076C>T	ExAC,gnomAD
MID1	O15344	p.Ile165Phe	rs1171605375	missense variant	-	NC_000023.11:g.10567055T>A	TOPMed
MID1	O15344	p.Pro166Leu	rs781279006	missense variant	-	NC_000023.11:g.10567051G>A	ExAC,gnomAD
MID1	O15344	p.Ser168Phe	rs1270408199	missense variant	-	NC_000023.11:g.10567045G>A	gnomAD
MID1	O15344	p.Arg171Trp	rs1464375714	missense variant	-	NC_000023.11:g.10567037G>A	TOPMed
MID1	O15344	p.Met174Ile	rs1316707756	missense variant	-	NC_000023.11:g.10567026C>T	gnomAD
MID1	O15344	p.Cys175Tyr	rs1290082018	missense variant	-	NC_000023.11:g.10567024C>T	gnomAD
MID1	O15344	p.Val183Met	rs1376311711	missense variant	-	NC_000023.11:g.10567001C>T	gnomAD
MID1	O15344	p.Asn184Lys	rs368927481	missense variant	-	NC_000023.11:g.10566996A>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Met185Arg	rs992236377	missense variant	-	NC_000023.11:g.10566994A>C	TOPMed
MID1	O15344	p.Arg203Gln	rs754279780	missense variant	-	NC_000023.11:g.10566940C>T	ExAC,gnomAD
MID1	O15344	p.Arg203Trp	rs1452714186	missense variant	-	NC_000023.11:g.10566941G>A	gnomAD
MID1	O15344	p.Arg205Cys	rs965275724	missense variant	-	NC_000023.11:g.10566935G>A	gnomAD
MID1	O15344	p.His207Gln	rs1383446204	missense variant	-	NC_000023.11:g.10566927A>C	gnomAD
MID1	O15344	p.Ala210Thr	rs374812607	missense variant	-	NC_000023.11:g.10566920C>T	ESP,gnomAD
MID1	O15344	p.Ala211Val	rs1250379544	missense variant	-	NC_000023.11:g.10566916G>A	gnomAD
MID1	O15344	p.Leu219Ser	rs746168447	missense variant	-	NC_000023.11:g.10566892A>G	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Gln221Lys	rs774710060	missense variant	-	NC_000023.11:g.10523187G>T	ExAC
MID1	O15344	p.Asn222Lys	rs766764184	missense variant	-	NC_000023.11:g.10523182G>T	ExAC
MID1	O15344	p.Asn222Asp	rs1320017604	missense variant	-	NC_000023.11:g.10523184T>C	TOPMed
MID1	O15344	p.Glu224Asp	rs1305140739	missense variant	-	NC_000023.11:g.10523176C>G	gnomAD
MID1	O15344	p.Ser225Asn	rs763101201	missense variant	-	NC_000023.11:g.10523174C>T	ExAC,gnomAD
MID1	O15344	p.Leu227Phe	rs750948750	missense variant	-	NC_000023.11:g.10523169G>A	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Asn229Tyr	rs769792761	missense variant	-	NC_000023.11:g.10523163T>A	ExAC,gnomAD
MID1	O15344	p.Asn229Ser	rs202082858	missense variant	-	NC_000023.11:g.10523162T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile231Phe	rs1250928460	missense variant	-	NC_000023.11:g.10523157T>A	TOPMed
MID1	O15344	p.Ile231Thr	rs1483794967	missense variant	-	NC_000023.11:g.10523156A>G	TOPMed
MID1	O15344	p.Asn234Lys	rs1405782698	missense variant	-	NC_000023.11:g.10523146G>C	TOPMed,gnomAD
MID1	O15344	p.Glu238Ter	rs387906719	stop gained	-	NC_000023.11:g.10523136C>A	-
MID1	O15344	p.Glu238Ter	RCV000022867	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10523136C>A	ClinVar
MID1	O15344	p.Thr239Ala	rs771836382	missense variant	-	NC_000023.11:g.10523133T>C	ExAC
MID1	O15344	p.Ala242Ser	rs1361646972	missense variant	-	NC_000023.11:g.10523124C>A	gnomAD
MID1	O15344	p.Ala242Asp	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>T	TOPMed,gnomAD
MID1	O15344	p.Ala242Val	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>A	TOPMed,gnomAD
MID1	O15344	p.Val253Ile	rs1480264678	missense variant	-	NC_000023.11:g.10495691C>T	gnomAD
MID1	O15344	p.Arg257Cys	rs755644971	missense variant	-	NC_000023.11:g.10495679G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg257His	rs747668073	missense variant	-	NC_000023.11:g.10495678C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala260Thr	rs781707475	missense variant	-	NC_000023.11:g.10495670C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys261Ter	RCV000178081	frameshift	-	NC_000023.11:g.10495667del	ClinVar
MID1	O15344	p.Glu264Gly	rs1229360357	missense variant	-	NC_000023.11:g.10495657T>C	TOPMed
MID1	O15344	p.Cys266Arg	VAR_013758	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Leu268His	rs1326064853	missense variant	-	NC_000023.11:g.10495645A>T	gnomAD
MID1	O15344	p.Arg277Ter	rs1555895704	stop gained	-	NC_000023.11:g.10495619G>A	-
MID1	O15344	p.Arg277Ter	RCV000659849	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10495619G>A	ClinVar
MID1	O15344	p.Arg277Gln	rs1261715086	missense variant	-	NC_000023.11:g.10495618C>T	TOPMed,gnomAD
MID1	O15344	p.Gln278Arg	rs1222510983	missense variant	-	NC_000023.11:g.10495615T>C	gnomAD
MID1	O15344	p.Ile284Val	rs1171594481	missense variant	-	NC_000023.11:g.10495598T>C	gnomAD
MID1	O15344	p.Met290Ile	rs1203361279	missense variant	-	NC_000023.11:g.10482623C>G	gnomAD
MID1	O15344	p.Arg291Lys	rs774294547	missense variant	-	NC_000023.11:g.10482621C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg293His	rs899677777	missense variant	-	NC_000023.11:g.10482615C>T	TOPMed
MID1	O15344	p.Lys294Arg	rs1285865197	missense variant	-	NC_000023.11:g.10482612T>C	gnomAD
MID1	O15344	p.Leu295Pro	RCV000011558	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482609A>G	ClinVar
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt,dbSNP
MID1	O15344	p.Leu295Pro	VAR_025495	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	-	NC_000023.11:g.10482609A>G	-
MID1	O15344	p.Ile299Thr	rs1206390719	missense variant	-	NC_000023.11:g.10482597A>G	gnomAD
MID1	O15344	p.Ile306Val	rs1284334406	missense variant	-	NC_000023.11:g.10482577T>C	gnomAD
MID1	O15344	p.Arg308Gln	rs762802896	missense variant	-	NC_000023.11:g.10482570C>T	ExAC,gnomAD
MID1	O15344	p.Arg308Ter	RCV000659850	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482571del	ClinVar
MID1	O15344	p.Arg308Trp	rs149787593	missense variant	-	NC_000023.11:g.10482571G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala316Glu	rs398123344	missense variant	-	NC_000023.11:g.10482546G>T	TOPMed
MID1	O15344	p.Ala316Val	rs398123344	missense variant	-	NC_000023.11:g.10482546G>A	TOPMed
MID1	O15344	p.Ala316Glu	RCV000078684	missense variant	-	NC_000023.11:g.10482546G>T	ClinVar
MID1	O15344	p.His318Gln	rs1399226678	missense variant	-	NC_000023.11:g.10482539G>C	gnomAD
MID1	O15344	p.His325Pro	rs1163978469	missense variant	-	NC_000023.11:g.10482519T>G	gnomAD
MID1	O15344	p.Arg327Cys	rs1483645727	missense variant	-	NC_000023.11:g.10482514G>A	TOPMed
MID1	O15344	p.Asn334Ser	rs1205263035	missense variant	-	NC_000023.11:g.10482492T>C	TOPMed
MID1	O15344	p.Glu337Lys	rs747456797	missense variant	-	NC_000023.11:g.10482484C>T	ExAC
MID1	O15344	p.Ser340Pro	rs1205933022	missense variant	-	NC_000023.11:g.10474746A>G	gnomAD
MID1	O15344	p.Ser346Pro	rs1160642369	missense variant	-	NC_000023.11:g.10474728A>G	TOPMed,gnomAD
MID1	O15344	p.Gln347His	rs1239445670	missense variant	-	NC_000023.11:g.10474723C>A	gnomAD
MID1	O15344	p.Ile353Thr	rs777949146	missense variant	-	NC_000023.11:g.10474706A>G	ExAC,gnomAD
MID1	O15344	p.Asn354Lys	rs756366511	missense variant	-	NC_000023.11:g.10474702G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn356Ser	rs748399428	missense variant	-	NC_000023.11:g.10474697T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr361Ser	rs750257635	missense variant	-	NC_000023.11:g.10474682G>C	ExAC,gnomAD
MID1	O15344	p.Leu364Ile	rs765282014	missense variant	-	NC_000023.11:g.10474674A>T	ExAC,gnomAD
MID1	O15344	p.Arg368Gln	rs753740212	missense variant	-	NC_000023.11:g.10474661C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Tyr378His	rs1373430724	missense variant	-	NC_000023.11:g.10474632A>G	gnomAD
MID1	O15344	p.Pro385Ala	rs200213912	missense variant	-	NC_000023.11:g.10469829G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr386Ile	rs1265184704	missense variant	-	NC_000023.11:g.10469825G>A	gnomAD
MID1	O15344	p.Arg388Thr	rs771515674	missense variant	-	NC_000023.11:g.10469819C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu389Lys	rs1486145790	missense variant	-	NC_000023.11:g.10469817C>T	gnomAD
MID1	O15344	p.Leu391_Cys392delinsArg	VAR_025496	deletion_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Cys392Tyr	rs1261435013	missense variant	-	NC_000023.11:g.10469807C>T	gnomAD
MID1	O15344	p.Ala394Pro	rs948448691	missense variant	-	NC_000023.11:g.10469802C>G	TOPMed
MID1	O15344	p.Ser395Ter	rs1210633665	stop gained	-	NC_000023.11:g.10469798G>T	gnomAD
MID1	O15344	p.Thr398Ala	rs1366882934	missense variant	-	NC_000023.11:g.10469790T>C	gnomAD
MID1	O15344	p.Thr400Ala	rs1423462435	missense variant	-	NC_000023.11:g.10469784T>C	gnomAD
MID1	O15344	p.Val401Ala	rs1169601679	missense variant	-	NC_000023.11:g.10469780A>G	gnomAD
MID1	O15344	p.Asp406Gly	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>C	TOPMed,gnomAD
MID1	O15344	p.Asp406Val	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>A	TOPMed,gnomAD
MID1	O15344	p.Asp407His	rs768610642	missense variant	-	NC_000023.11:g.10469763C>G	ExAC,gnomAD
MID1	O15344	p.Ser410Thr	rs1280587582	missense variant	-	NC_000023.11:g.10469753C>G	TOPMed
MID1	O15344	p.Val411Met	rs778696153	missense variant	-	NC_000023.11:g.10469751C>T	ExAC,gnomAD
MID1	O15344	p.Thr419Ile	rs1466434678	missense variant	-	NC_000023.11:g.10469726G>A	TOPMed
MID1	O15344	p.Gly423Arg	rs1002864796	missense variant	-	NC_000023.11:g.10469715C>T	TOPMed
MID1	O15344	p.Ala425Thr	rs1337827121	missense variant	-	NC_000023.11:g.10469709C>T	gnomAD
MID1	O15344	p.Val427Ile	rs755985917	missense variant	-	NC_000023.11:g.10469703C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val428Ile	rs1280989248	missense variant	-	NC_000023.11:g.10469700C>T	TOPMed,gnomAD
MID1	O15344	p.Val428Ile	RCV000729030	missense variant	-	NC_000023.11:g.10469700C>T	ClinVar
MID1	O15344	p.Ser429Asn	rs768937441	missense variant	-	NC_000023.11:g.10459807C>T	ExAC,gnomAD
MID1	O15344	p.Ser433Leu	rs780880323	missense variant	-	NC_000023.11:g.10459795G>A	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.AlaAsp434AlaAspTerUnk	rs786200982	stop gained	-	NC_000023.11:g.10459788_10459791dup	-
MID1	O15344	p.Ser436Ter	RCV000180150	nonsense	-	NC_000023.11:g.10459788_10459791dup	ClinVar
MID1	O15344	p.Met438del	VAR_013759	inframe_deletion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.His447Tyr	rs1320558372	missense variant	-	NC_000023.11:g.10459754G>A	gnomAD
MID1	O15344	p.His447Gln	rs772124520	missense variant	-	NC_000023.11:g.10459752G>C	ExAC,gnomAD
MID1	O15344	p.Tyr448His	RCV000719817	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.10459751A>G	ClinVar
MID1	O15344	p.Thr449Met	rs201454444	missense variant	-	NC_000023.11:g.10459747G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly452Ser	RCV000657884	missense variant	-	NC_000023.11:g.10459739C>T	ClinVar
MID1	O15344	p.Gly452Ser	rs1556004404	missense variant	-	NC_000023.11:g.10459739C>T	-
MID1	O15344	p.Gln454Arg	RCV000659851	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459732T>C	ClinVar
MID1	O15344	p.Gly456Ser	rs746602154	missense variant	-	NC_000023.11:g.10459727C>T	ExAC,gnomAD
MID1	O15344	p.Thr457Ile	rs1335896786	missense variant	-	NC_000023.11:g.10459723G>A	TOPMed
MID1	O15344	p.Met462Ile	rs1291943707	missense variant	-	NC_000023.11:g.10459707C>T	gnomAD
MID1	O15344	p.Met462Thr	rs1487662491	missense variant	-	NC_000023.11:g.10459708A>G	gnomAD
MID1	O15344	p.Lys464Arg	rs757888585	missense variant	-	NC_000023.11:g.10459702T>C	ExAC,gnomAD
MID1	O15344	p.Ala465Pro	RCV000659852	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459700C>G	ClinVar
MID1	O15344	p.Ala465Pro	rs1556004366	missense variant	-	NC_000023.11:g.10459700C>G	-
MID1	O15344	p.Gln468Arg	rs967412425	missense variant	-	NC_000023.11:g.10459690T>C	TOPMed
MID1	O15344	p.Ala469Thr	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>T	TOPMed,gnomAD
MID1	O15344	p.Ala469Ser	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>A	TOPMed,gnomAD
MID1	O15344	p.Ala469Val	rs1311942233	missense variant	-	NC_000023.11:g.10459687G>A	gnomAD
MID1	O15344	p.Gly470Asp	rs761537930	missense variant	-	NC_000023.11:g.10459684C>T	gnomAD
MID1	O15344	p.Ser471Gly	rs749981475	missense variant	-	NC_000023.11:g.10459682T>C	ExAC,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser471Cys	rs749981475	missense variant	-	NC_000023.11:g.10459682T>A	ExAC,gnomAD
MID1	O15344	p.Arg472His	rs370465458	missense variant	-	NC_000023.11:g.10459678C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg472Cys	rs1339922842	missense variant	-	NC_000023.11:g.10459679G>A	TOPMed,gnomAD
MID1	O15344	p.Ser473Asn	rs200124370	missense variant	-	NC_000023.11:g.10459675C>T	1000Genomes,ExAC
MID1	O15344	p.Ser483Ter	RCV000180149	frameshift	-	NC_000023.11:g.10459649_10459652dup	ClinVar
MID1	O15344	p.Pro485Ter	RCV000659853	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455072del	ClinVar
MID1	O15344	p.Lys491Thr	rs758089179	missense variant	-	NC_000023.11:g.10455053T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys491Arg	rs758089179	missense variant	-	NC_000023.11:g.10455053T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.His494Tyr	rs373136825	missense variant	-	NC_000023.11:g.10455045G>A	ESP,TOPMed
MID1	O15344	p.Arg495Ter	rs745554420	stop gained	-	NC_000023.11:g.10455042G>A	ExAC,gnomAD
MID1	O15344	p.Arg495Ter	RCV000627230	nonsense	-	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Ter	RCV000659854	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Gln	rs1430919712	missense variant	-	NC_000023.11:g.10455041C>T	TOPMed,gnomAD
MID1	O15344	p.Leu504Phe	rs370948485	missense variant	-	NC_000023.11:g.10455013C>G	ESP,ExAC,gnomAD
MID1	O15344	p.Thr505Arg	rs145973480	missense variant	-	NC_000023.11:g.10455011G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg508His	rs376241755	missense variant	-	NC_000023.11:g.10455002C>T	ESP,ExAC,gnomAD
MID1	O15344	p.Arg508Cys	rs1401866525	missense variant	-	NC_000023.11:g.10455003G>A	TOPMed
MID1	O15344	p.Glu510Gly	rs1225629827	missense variant	-	NC_000023.11:g.10454996T>C	gnomAD
MID1	O15344	p.Ser513Pro	RCV000180496	missense variant	-	NC_000023.11:g.10454988A>G	ClinVar
MID1	O15344	p.Ser513Pro	rs794727956	missense variant	-	NC_000023.11:g.10454988A>G	-
MID1	O15344	p.Thr518Ter	RCV000011559	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454978_10454979CT[1]	ClinVar
MID1	O15344	p.Glu520Ter	RCV000011554	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454967dup	ClinVar
MID1	O15344	p.Arg521Cys	rs149482288	missense variant	-	NC_000023.11:g.10454964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521His	rs369909019	missense variant	-	NC_000023.11:g.10454963C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521Cys	RCV000180497	missense variant	-	NC_000023.11:g.10454964G>A	ClinVar
MID1	O15344	p.Arg521His	RCV000490086	missense variant	-	NC_000023.11:g.10454963C>T	ClinVar
MID1	O15344	p.Arg521Leu	rs369909019	missense variant	-	NC_000023.11:g.10454963C>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr523Ala	rs774726726	missense variant	-	NC_000023.11:g.10454958T>C	ExAC
MID1	O15344	p.Gly529Ala	rs1339873549	missense variant	-	NC_000023.11:g.10454939C>G	TOPMed
MID1	O15344	p.Val530Ile	rs763005757	missense variant	-	NC_000023.11:g.10454937C>T	ExAC,gnomAD
MID1	O15344	p.Ala531Val	rs776614617	missense variant	-	NC_000023.11:g.10454933G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn533Thr	rs1279961984	missense variant	-	NC_000023.11:g.10454927T>G	TOPMed
MID1	O15344	p.Val534Gly	rs1464286489	missense variant	-	NC_000023.11:g.10454924A>C	gnomAD
MID1	O15344	p.Val534Met	rs1338268932	missense variant	-	NC_000023.11:g.10454925C>T	gnomAD
MID1	O15344	p.Val534insValPheIleAspSerGlyArgHisLeu	VAR_013760	inframe_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ile536Thr	VAR_013761	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ser538Thr	rs775227924	missense variant	-	NC_000023.11:g.10454912C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser538Ter	RCV000659855	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454916_10454919dup	ClinVar
MID1	O15344	p.Arg540Trp	rs1420374178	missense variant	-	NC_000023.11:g.10454907G>A	gnomAD
MID1	O15344	p.Val546Ile	rs771878559	missense variant	-	NC_000023.11:g.10454889C>T	ExAC,gnomAD
MID1	O15344	p.Ile555Leu	rs398123341	missense variant	-	NC_000023.11:g.10449709T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Leu	RCV000078677	missense variant	-	NC_000023.11:g.10449709T>G	ClinVar
MID1	O15344	p.Ile555Val	RCV000659856	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449709T>C	ClinVar
MID1	O15344	p.Ile555Val	rs398123341	missense variant	-	NC_000023.11:g.10449709T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys560Arg	RCV000440069	missense variant	-	NC_000023.11:g.10449693T>C	ClinVar
MID1	O15344	p.Lys560Arg	rs1057520313	missense variant	-	NC_000023.11:g.10449693T>C	-
MID1	O15344	p.Ala562Val	rs1489299753	missense variant	-	NC_000023.11:g.10449687G>A	gnomAD
MID1	O15344	p.Pro563Leu	rs750506306	missense variant	-	NC_000023.11:g.10449684G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys564Gln	rs1184266835	missense variant	-	NC_000023.11:g.10449682T>G	gnomAD
MID1	O15344	p.His565Asn	rs1360715026	missense variant	-	NC_000023.11:g.10449679G>T	gnomAD
MID1	O15344	p.Ile568Thr	rs775422871	missense variant	-	NC_000023.11:g.10449669A>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile568Val	rs1387762588	missense variant	-	NC_000023.11:g.10449670T>C	TOPMed
MID1	O15344	p.Trp575Ter	rs1556001968	stop gained	-	NC_000023.11:g.10449647C>T	-
MID1	O15344	p.Trp575Ter	RCV000659857	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449647C>T	ClinVar
MID1	O15344	p.Ala576Val	rs773980150	missense variant	-	NC_000023.11:g.10449645G>A	ExAC,gnomAD
MID1	O15344	p.Arg579Cys	rs770539991	missense variant	-	NC_000023.11:g.10449637G>A	ExAC,gnomAD
MID1	O15344	p.Arg579His	rs761774660	missense variant	-	NC_000023.11:g.10449636C>T	ExAC,gnomAD
MID1	O15344	p.Asn583Ser	rs1457192745	missense variant	-	NC_000023.11:g.10449624T>C	gnomAD
MID1	O15344	p.Val586Leu	rs777097030	missense variant	-	NC_000023.11:g.10449616C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val586Met	rs777097030	missense variant	-	NC_000023.11:g.10449616C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg587Thr	rs748598463	missense variant	-	NC_000023.11:g.10449612C>G	ExAC,gnomAD
MID1	O15344	p.His588Asn	rs760349065	missense variant	-	NC_000023.11:g.10449610G>T	1000Genomes
MID1	O15344	p.Asn589Asp	rs1556001939	missense variant	-	NC_000023.11:g.10449607T>C	-
MID1	O15344	p.Asn589Asp	RCV000626680	missense variant	Hypertelorism	NC_000023.11:g.10449607T>C	ClinVar
MID1	O15344	p.Ile595Leu	rs1329135216	missense variant	-	NC_000023.11:g.10449589T>G	TOPMed
MID1	O15344	p.Pro597Ser	rs988941083	missense variant	-	NC_000023.11:g.10449583G>A	TOPMed
MID1	O15344	p.Ala598Val	rs369262421	missense variant	-	NC_000023.11:g.10449579G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala598Gly	rs369262421	missense variant	-	NC_000023.11:g.10449579G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Pro599Ala	rs1352607382	missense variant	-	NC_000023.11:g.10449577G>C	TOPMed
MID1	O15344	p.His600Ter	RCV000173680	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.His600Asp	rs1802191	missense variant	-	NC_000023.11:g.10449574G>C	TOPMed,gnomAD
MID1	O15344	p.His600Tyr	rs1802191	missense variant	-	NC_000023.11:g.10449574G>A	TOPMed,gnomAD
MID1	O15344	p.His600Ter	RCV000790799	frameshift	-	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.Arg602Gln	rs758507303	missense variant	-	NC_000023.11:g.10449567C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg602Trp	rs780389420	missense variant	-	NC_000023.11:g.10449568G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg603His	rs750682655	missense variant	-	NC_000023.11:g.10449564C>T	ExAC,gnomAD
MID1	O15344	p.Val604Leu	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>A	TOPMed,gnomAD
MID1	O15344	p.Val604Met	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>T	TOPMed,gnomAD
MID1	O15344	p.Asn612Ser	rs757366426	missense variant	-	NC_000023.11:g.10449537T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly613Ser	rs1205719863	missense variant	-	NC_000023.11:g.10449535C>T	TOPMed
MID1	O15344	p.Ser614Phe	rs767500744	missense variant	-	NC_000023.11:g.10449531G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile615Val	rs1473385224	missense variant	-	NC_000023.11:g.10449529T>C	TOPMed
MID1	O15344	p.Ala616Thr	rs1169366982	missense variant	-	NC_000023.11:g.10449526C>T	gnomAD
MID1	O15344	p.Tyr618Phe	rs1421698210	missense variant	-	NC_000023.11:g.10449519T>A	gnomAD
MID1	O15344	p.Ala620Ser	rs766217789	missense variant	-	NC_000023.11:g.10449514C>A	ExAC,gnomAD
MID1	O15344	p.Ala620Val	rs762453585	missense variant	-	NC_000023.11:g.10449513G>A	ExAC,gnomAD
MID1	O15344	p.Ser623Tyr	rs1197360854	missense variant	-	NC_000023.11:g.10449504G>T	gnomAD
MID1	O15344	p.Leu626Pro	RCV000011555	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449495A>G	ClinVar
MID1	O15344	p.Leu626Phe	rs772922068	missense variant	-	NC_000023.11:g.10449496G>A	ExAC,gnomAD
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	-	NC_000023.11:g.10449495A>G	-
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt,dbSNP
MID1	O15344	p.Leu626Pro	VAR_013762	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt
MID1	O15344	p.Tyr627Ter	RCV000659858	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449491G>T	ClinVar
MID1	O15344	p.Tyr627Ter	rs1556001856	stop gained	-	NC_000023.11:g.10449491G>T	-
MID1	O15344	p.Thr628Asn	rs769182755	missense variant	-	NC_000023.11:g.10449489G>T	ExAC,gnomAD
MID1	O15344	p.Asp630Asn	rs150291968	missense variant	-	NC_000023.11:g.10449484C>T	ESP,TOPMed
MID1	O15344	p.Asp630Asn	RCV000780411	missense variant	-	NC_000023.11:g.10449484C>T	ClinVar
MID1	O15344	p.Val631Ile	rs769324197	missense variant	-	NC_000023.11:g.10449481C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val631Phe	rs769324197	missense variant	-	NC_000023.11:g.10449481C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Thr	rs747547954	missense variant	-	NC_000023.11:g.10449478C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Ser	rs747547954	missense variant	-	NC_000023.11:g.10449478C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala634Val	rs944621690	missense variant	-	NC_000023.11:g.10449471G>A	TOPMed
MID1	O15344	p.Gln635Arg	rs758806928	missense variant	-	NC_000023.11:g.10449468T>C	ExAC,gnomAD
MID1	O15344	p.Cys638Trp	rs746014431	missense variant	-	NC_000023.11:g.10449458G>C	ExAC,gnomAD
MID1	O15344	p.Pro639Ser	rs1333314044	missense variant	-	NC_000023.11:g.10449457G>A	gnomAD
MID1	O15344	p.Pro639Leu	rs779265828	missense variant	-	NC_000023.11:g.10449456G>A	ExAC,gnomAD
MID1	O15344	p.Thr640Ter	RCV000754789	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449458del	ClinVar
MID1	O15344	p.Lys646Met	rs757315836	missense variant	-	NC_000023.11:g.10449435T>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys646Arg	rs757315836	missense variant	-	NC_000023.11:g.10449435T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile650Thr	rs1341135609	missense variant	-	NC_000023.11:g.10449423A>G	TOPMed
MID1	O15344	p.Ile656Val	rs371705269	missense variant	-	NC_000023.11:g.10449406T>C	ESP,ExAC,TOPMed
MID1	O15344	p.His659Tyr	rs751510252	missense variant	-	NC_000023.11:g.10449397G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp661Glu	rs767075372	missense variant	-	NC_000023.11:g.10449389G>C	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Thr663Ile	RCV000078679	missense variant	-	NC_000023.11:g.10449384G>A	ClinVar
MID1	O15344	p.Thr663Ile	rs138558359	missense variant	-	NC_000023.11:g.10449384G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gln665His	rs1438198955	missense variant	-	NC_000023.11:g.10449377C>G	gnomAD
MID1	O15344	p.Pro667Leu	RCV000659859	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449372G>A	ClinVar
MID1	O15344	p.Pro667Leu	rs147106995	missense variant	-	NC_000023.11:g.10449372G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr9Ile	rs1247267423	missense variant	-	NC_000023.11:g.10567522G>A	TOPMed,gnomAD
MID1	O15344	p.Ile12Val	rs1555905454	missense variant	-	NC_000023.11:g.10567514T>C	-
MID1	O15344	p.Ile12Val	RCV000500062	missense variant	-	NC_000023.11:g.10567514T>C	ClinVar
MID1	O15344	p.Pro20Leu	rs1199518877	missense variant	-	NC_000023.11:g.10567489G>A	gnomAD
MID1	O15344	p.Ser28Asn	rs1001131284	missense variant	-	NC_000023.11:g.10567465C>T	TOPMed
MID1	O15344	p.Ala34Val	rs1366033152	missense variant	-	NC_000023.11:g.10567447G>A	gnomAD
MID1	O15344	p.Ala34Thr	rs201407794	missense variant	-	NC_000023.11:g.10567448C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.His35Asp	rs1230622754	missense variant	-	NC_000023.11:g.10567445G>C	gnomAD
MID1	O15344	p.His35Gln	rs781375702	missense variant	-	NC_000023.11:g.10567443G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg36His	rs1270080835	missense variant	-	NC_000023.11:g.10567441C>T	gnomAD
MID1	O15344	p.Ile37Asn	rs755238099	missense variant	-	NC_000023.11:g.10567438A>T	ExAC,gnomAD
MID1	O15344	p.His41Arg	rs747064197	missense variant	-	NC_000023.11:g.10567426T>C	ExAC,gnomAD
MID1	O15344	p.His41Pro	rs747064197	missense variant	-	NC_000023.11:g.10567426T>G	ExAC,gnomAD
MID1	O15344	p.Thr44Ala	rs779960944	missense variant	-	NC_000023.11:g.10567418T>C	ExAC,gnomAD
MID1	O15344	p.Thr44Ile	rs758530606	missense variant	-	NC_000023.11:g.10567417G>A	ExAC
MID1	O15344	p.Asn45Ser	rs753662440	missense variant	-	NC_000023.11:g.10567414T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn45Lys	rs996298206	missense variant	-	NC_000023.11:g.10567413G>T	TOPMed
MID1	O15344	p.Glu46Lys	rs1170099584	missense variant	-	NC_000023.11:g.10567412C>T	gnomAD
MID1	O15344	p.Ser50Cys	rs1388869848	missense variant	-	NC_000023.11:g.10567399G>C	TOPMed
MID1	O15344	p.Ile51Val	rs764098546	missense variant	-	NC_000023.11:g.10567397T>C	ExAC,gnomAD
MID1	O15344	p.Ala53Thr	rs147970950	missense variant	-	NC_000023.11:g.10567391C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr58Pro	rs767256051	missense variant	-	NC_000023.11:g.10567376T>G	ExAC,gnomAD
MID1	O15344	p.Thr58Ile	rs1379754388	missense variant	-	NC_000023.11:g.10567375G>A	TOPMed
MID1	O15344	p.Arg60Trp	rs1470523331	missense variant	-	NC_000023.11:g.10567370G>A	TOPMed,gnomAD
MID1	O15344	p.Arg60Gln	rs759189233	missense variant	-	NC_000023.11:g.10567369C>T	1000Genomes
MID1	O15344	p.Thr64Asn	rs759223555	missense variant	-	NC_000023.11:g.10567357G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr64Ser	rs759223555	missense variant	-	NC_000023.11:g.10567357G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg68Gln	rs765748631	missense variant	-	NC_000023.11:g.10567345C>T	ExAC,gnomAD
MID1	O15344	p.Gly72Arg	rs1220297223	missense variant	-	NC_000023.11:g.10567334C>T	gnomAD
MID1	O15344	p.Lys74Arg	rs1266823249	missense variant	-	NC_000023.11:g.10567327T>C	TOPMed
MID1	O15344	p.Val77Ile	rs143416243	missense variant	-	NC_000023.11:g.10567319C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Val77Ile	RCV000499934	missense variant	-	NC_000023.11:g.10567319C>T	ClinVar
MID1	O15344	p.Gln80Ter	rs770387204	stop gained	-	NC_000023.11:g.10567310G>A	ExAC,gnomAD
MID1	O15344	p.Gln80His	rs1043173800	missense variant	-	NC_000023.11:g.10567308C>G	gnomAD
MID1	O15344	p.Asp84Glu	rs1441326944	missense variant	-	NC_000023.11:g.10567296G>T	TOPMed
MID1	O15344	p.Asp84Asn	rs374851071	missense variant	-	NC_000023.11:g.10567298C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg85Ser	rs149218019	missense variant	-	NC_000023.11:g.10567293C>A	ESP,TOPMed
MID1	O15344	p.Ala89Thr	rs1407207268	missense variant	-	NC_000023.11:g.10567283C>T	TOPMed
MID1	O15344	p.Gly93Glu	rs1366901870	missense variant	-	NC_000023.11:g.10567270C>T	TOPMed
MID1	O15344	p.Gly93Arg	rs747187740	missense variant	-	NC_000023.11:g.10567271C>T	ExAC,gnomAD
MID1	O15344	p.Asn95Ser	rs780339406	missense variant	-	NC_000023.11:g.10567264T>C	ExAC,gnomAD
MID1	O15344	p.Thr100Asn	rs147727283	missense variant	-	NC_000023.11:g.10567249G>T	ESP
MID1	O15344	p.Arg101His	rs202142461	missense variant	-	NC_000023.11:g.10567246C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg101Cys	rs746029175	missense variant	-	NC_000023.11:g.10567247G>A	ExAC,gnomAD
MID1	O15344	p.Arg102Trp	rs756170550	missense variant	-	NC_000023.11:g.10567244G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Gln	rs200381037	missense variant	-	NC_000023.11:g.10567243C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg104Gln	rs199516073	missense variant	-	NC_000023.11:g.10567237C>T	TOPMed
MID1	O15344	p.Arg104Trp	rs767372071	missense variant	-	NC_000023.11:g.10567238G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala105Thr	rs1352145801	missense variant	-	NC_000023.11:g.10567235C>T	gnomAD
MID1	O15344	p.Ala108Gly	rs751104556	missense variant	-	NC_000023.11:g.10567225G>C	ExAC,gnomAD
MID1	O15344	p.Ala114Ser	rs749995175	missense variant	-	NC_000023.11:g.10567208C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala114Thr	rs749995175	missense variant	-	NC_000023.11:g.10567208C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala114Thr	RCV000478970	missense variant	-	NC_000023.11:g.10567208C>T	ClinVar
MID1	O15344	p.Glu115Lys	rs104894865	missense variant	-	NC_000023.11:g.10567205C>T	TOPMed,gnomAD
MID1	O15344	p.Glu115Gln	rs104894865	missense variant	-	NC_000023.11:g.10567205C>G	TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	rs104894865	stop gained	-	NC_000023.11:g.10567205C>A	TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	RCV000011556	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10567205C>A	ClinVar
MID1	O15344	p.Leu118Phe	rs1372240598	missense variant	-	NC_000023.11:g.10567196G>A	gnomAD
MID1	O15344	p.Gln124Arg	rs762272910	missense variant	-	NC_000023.11:g.10567177T>C	ExAC
MID1	O15344	p.Pro126Ser	rs1258308744	missense variant	-	NC_000023.11:g.10567172G>A	TOPMed
MID1	O15344	p.Lys132Asn	rs927091019	missense variant	-	NC_000023.11:g.10567152C>A	TOPMed
MID1	O15344	p.Glu144Lys	rs371028819	missense variant	-	NC_000023.11:g.10567118C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu144Ala	rs772398285	missense variant	-	NC_000023.11:g.10567117T>G	ExAC
MID1	O15344	p.Gly158Ser	rs748040551	missense variant	-	NC_000023.11:g.10567076C>T	ExAC,gnomAD
MID1	O15344	p.Ile165Phe	rs1171605375	missense variant	-	NC_000023.11:g.10567055T>A	TOPMed
MID1	O15344	p.Pro166Leu	rs781279006	missense variant	-	NC_000023.11:g.10567051G>A	ExAC,gnomAD
MID1	O15344	p.Ser168Phe	rs1270408199	missense variant	-	NC_000023.11:g.10567045G>A	gnomAD
MID1	O15344	p.Arg171Trp	rs1464375714	missense variant	-	NC_000023.11:g.10567037G>A	TOPMed
MID1	O15344	p.Met174Ile	rs1316707756	missense variant	-	NC_000023.11:g.10567026C>T	gnomAD
MID1	O15344	p.Cys175Tyr	rs1290082018	missense variant	-	NC_000023.11:g.10567024C>T	gnomAD
MID1	O15344	p.Val183Met	rs1376311711	missense variant	-	NC_000023.11:g.10567001C>T	gnomAD
MID1	O15344	p.Asn184Lys	rs368927481	missense variant	-	NC_000023.11:g.10566996A>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Met185Arg	rs992236377	missense variant	-	NC_000023.11:g.10566994A>C	TOPMed
MID1	O15344	p.Arg203Trp	rs1452714186	missense variant	-	NC_000023.11:g.10566941G>A	gnomAD
MID1	O15344	p.Arg203Gln	rs754279780	missense variant	-	NC_000023.11:g.10566940C>T	ExAC,gnomAD
MID1	O15344	p.Arg205Cys	rs965275724	missense variant	-	NC_000023.11:g.10566935G>A	gnomAD
MID1	O15344	p.His207Gln	rs1383446204	missense variant	-	NC_000023.11:g.10566927A>C	gnomAD
MID1	O15344	p.Ala210Thr	rs374812607	missense variant	-	NC_000023.11:g.10566920C>T	ESP,gnomAD
MID1	O15344	p.Ala211Val	rs1250379544	missense variant	-	NC_000023.11:g.10566916G>A	gnomAD
MID1	O15344	p.Leu219Ser	rs746168447	missense variant	-	NC_000023.11:g.10566892A>G	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Gln221Lys	rs774710060	missense variant	-	NC_000023.11:g.10523187G>T	ExAC
MID1	O15344	p.Asn222Lys	rs766764184	missense variant	-	NC_000023.11:g.10523182G>T	ExAC
MID1	O15344	p.Asn222Asp	rs1320017604	missense variant	-	NC_000023.11:g.10523184T>C	TOPMed
MID1	O15344	p.Glu224Asp	rs1305140739	missense variant	-	NC_000023.11:g.10523176C>G	gnomAD
MID1	O15344	p.Ser225Asn	rs763101201	missense variant	-	NC_000023.11:g.10523174C>T	ExAC,gnomAD
MID1	O15344	p.Leu227Phe	rs750948750	missense variant	-	NC_000023.11:g.10523169G>A	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Asn229Ser	rs202082858	missense variant	-	NC_000023.11:g.10523162T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn229Tyr	rs769792761	missense variant	-	NC_000023.11:g.10523163T>A	ExAC,gnomAD
MID1	O15344	p.Ile231Thr	rs1483794967	missense variant	-	NC_000023.11:g.10523156A>G	TOPMed
MID1	O15344	p.Ile231Phe	rs1250928460	missense variant	-	NC_000023.11:g.10523157T>A	TOPMed
MID1	O15344	p.Asn234Lys	rs1405782698	missense variant	-	NC_000023.11:g.10523146G>C	TOPMed,gnomAD
MID1	O15344	p.Glu238Ter	rs387906719	stop gained	-	NC_000023.11:g.10523136C>A	-
MID1	O15344	p.Glu238Ter	RCV000022867	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10523136C>A	ClinVar
MID1	O15344	p.Thr239Ala	rs771836382	missense variant	-	NC_000023.11:g.10523133T>C	ExAC
MID1	O15344	p.Ala242Ser	rs1361646972	missense variant	-	NC_000023.11:g.10523124C>A	gnomAD
MID1	O15344	p.Ala242Asp	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>T	TOPMed,gnomAD
MID1	O15344	p.Ala242Val	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>A	TOPMed,gnomAD
MID1	O15344	p.Val253Ile	rs1480264678	missense variant	-	NC_000023.11:g.10495691C>T	gnomAD
MID1	O15344	p.Arg257His	rs747668073	missense variant	-	NC_000023.11:g.10495678C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg257Cys	rs755644971	missense variant	-	NC_000023.11:g.10495679G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala260Thr	rs781707475	missense variant	-	NC_000023.11:g.10495670C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys261Ter	RCV000178081	frameshift	-	NC_000023.11:g.10495667del	ClinVar
MID1	O15344	p.Glu264Gly	rs1229360357	missense variant	-	NC_000023.11:g.10495657T>C	TOPMed
MID1	O15344	p.Cys266Arg	VAR_013758	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Leu268His	rs1326064853	missense variant	-	NC_000023.11:g.10495645A>T	gnomAD
MID1	O15344	p.Arg277Ter	rs1555895704	stop gained	-	NC_000023.11:g.10495619G>A	-
MID1	O15344	p.Arg277Gln	rs1261715086	missense variant	-	NC_000023.11:g.10495618C>T	TOPMed,gnomAD
MID1	O15344	p.Arg277Ter	RCV000659849	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10495619G>A	ClinVar
MID1	O15344	p.Gln278Arg	rs1222510983	missense variant	-	NC_000023.11:g.10495615T>C	gnomAD
MID1	O15344	p.Ile284Val	rs1171594481	missense variant	-	NC_000023.11:g.10495598T>C	gnomAD
MID1	O15344	p.Met290Ile	rs1203361279	missense variant	-	NC_000023.11:g.10482623C>G	gnomAD
MID1	O15344	p.Arg291Lys	rs774294547	missense variant	-	NC_000023.11:g.10482621C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg293His	rs899677777	missense variant	-	NC_000023.11:g.10482615C>T	TOPMed
MID1	O15344	p.Lys294Arg	rs1285865197	missense variant	-	NC_000023.11:g.10482612T>C	gnomAD
MID1	O15344	p.Leu295Pro	RCV000011558	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482609A>G	ClinVar
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt,dbSNP
MID1	O15344	p.Leu295Pro	VAR_025495	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	-	NC_000023.11:g.10482609A>G	-
MID1	O15344	p.Ile299Thr	rs1206390719	missense variant	-	NC_000023.11:g.10482597A>G	gnomAD
MID1	O15344	p.Ile306Val	rs1284334406	missense variant	-	NC_000023.11:g.10482577T>C	gnomAD
MID1	O15344	p.Arg308Trp	rs149787593	missense variant	-	NC_000023.11:g.10482571G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg308Ter	RCV000659850	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482571del	ClinVar
MID1	O15344	p.Arg308Gln	rs762802896	missense variant	-	NC_000023.11:g.10482570C>T	ExAC,gnomAD
MID1	O15344	p.Ala316Glu	rs398123344	missense variant	-	NC_000023.11:g.10482546G>T	TOPMed
MID1	O15344	p.Ala316Val	rs398123344	missense variant	-	NC_000023.11:g.10482546G>A	TOPMed
MID1	O15344	p.Ala316Glu	RCV000078684	missense variant	-	NC_000023.11:g.10482546G>T	ClinVar
MID1	O15344	p.His318Gln	rs1399226678	missense variant	-	NC_000023.11:g.10482539G>C	gnomAD
MID1	O15344	p.His325Pro	rs1163978469	missense variant	-	NC_000023.11:g.10482519T>G	gnomAD
MID1	O15344	p.Arg327Cys	rs1483645727	missense variant	-	NC_000023.11:g.10482514G>A	TOPMed
MID1	O15344	p.Asn334Ser	rs1205263035	missense variant	-	NC_000023.11:g.10482492T>C	TOPMed
MID1	O15344	p.Glu337Lys	rs747456797	missense variant	-	NC_000023.11:g.10482484C>T	ExAC
MID1	O15344	p.Ser340Pro	rs1205933022	missense variant	-	NC_000023.11:g.10474746A>G	gnomAD
MID1	O15344	p.Ser346Pro	rs1160642369	missense variant	-	NC_000023.11:g.10474728A>G	TOPMed,gnomAD
MID1	O15344	p.Gln347His	rs1239445670	missense variant	-	NC_000023.11:g.10474723C>A	gnomAD
MID1	O15344	p.Ile353Thr	rs777949146	missense variant	-	NC_000023.11:g.10474706A>G	ExAC,gnomAD
MID1	O15344	p.Asn354Lys	rs756366511	missense variant	-	NC_000023.11:g.10474702G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn356Ser	rs748399428	missense variant	-	NC_000023.11:g.10474697T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr361Ser	rs750257635	missense variant	-	NC_000023.11:g.10474682G>C	ExAC,gnomAD
MID1	O15344	p.Leu364Ile	rs765282014	missense variant	-	NC_000023.11:g.10474674A>T	ExAC,gnomAD
MID1	O15344	p.Arg368Gln	rs753740212	missense variant	-	NC_000023.11:g.10474661C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Tyr378His	rs1373430724	missense variant	-	NC_000023.11:g.10474632A>G	gnomAD
MID1	O15344	p.Pro385Ala	rs200213912	missense variant	-	NC_000023.11:g.10469829G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr386Ile	rs1265184704	missense variant	-	NC_000023.11:g.10469825G>A	gnomAD
MID1	O15344	p.Arg388Thr	rs771515674	missense variant	-	NC_000023.11:g.10469819C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu389Lys	rs1486145790	missense variant	-	NC_000023.11:g.10469817C>T	gnomAD
MID1	O15344	p.Leu391_Cys392delinsArg	VAR_025496	deletion_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Cys392Tyr	rs1261435013	missense variant	-	NC_000023.11:g.10469807C>T	gnomAD
MID1	O15344	p.Ala394Pro	rs948448691	missense variant	-	NC_000023.11:g.10469802C>G	TOPMed
MID1	O15344	p.Ser395Ter	rs1210633665	stop gained	-	NC_000023.11:g.10469798G>T	gnomAD
MID1	O15344	p.Thr398Ala	rs1366882934	missense variant	-	NC_000023.11:g.10469790T>C	gnomAD
MID1	O15344	p.Thr400Ala	rs1423462435	missense variant	-	NC_000023.11:g.10469784T>C	gnomAD
MID1	O15344	p.Val401Ala	rs1169601679	missense variant	-	NC_000023.11:g.10469780A>G	gnomAD
MID1	O15344	p.Asp406Gly	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>C	TOPMed,gnomAD
MID1	O15344	p.Asp406Val	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>A	TOPMed,gnomAD
MID1	O15344	p.Asp407His	rs768610642	missense variant	-	NC_000023.11:g.10469763C>G	ExAC,gnomAD
MID1	O15344	p.Ser410Thr	rs1280587582	missense variant	-	NC_000023.11:g.10469753C>G	TOPMed
MID1	O15344	p.Val411Met	rs778696153	missense variant	-	NC_000023.11:g.10469751C>T	ExAC,gnomAD
MID1	O15344	p.Thr419Ile	rs1466434678	missense variant	-	NC_000023.11:g.10469726G>A	TOPMed
MID1	O15344	p.Gly423Arg	rs1002864796	missense variant	-	NC_000023.11:g.10469715C>T	TOPMed
MID1	O15344	p.Ala425Thr	rs1337827121	missense variant	-	NC_000023.11:g.10469709C>T	gnomAD
MID1	O15344	p.Val427Ile	rs755985917	missense variant	-	NC_000023.11:g.10469703C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val428Ile	rs1280989248	missense variant	-	NC_000023.11:g.10469700C>T	TOPMed,gnomAD
MID1	O15344	p.Val428Ile	RCV000729030	missense variant	-	NC_000023.11:g.10469700C>T	ClinVar
MID1	O15344	p.Ser429Asn	rs768937441	missense variant	-	NC_000023.11:g.10459807C>T	ExAC,gnomAD
MID1	O15344	p.Ser433Leu	rs780880323	missense variant	-	NC_000023.11:g.10459795G>A	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.AlaAsp434AlaAspTerUnk	rs786200982	stop gained	-	NC_000023.11:g.10459788_10459791dup	-
MID1	O15344	p.Ser436Ter	RCV000180150	nonsense	-	NC_000023.11:g.10459788_10459791dup	ClinVar
MID1	O15344	p.Met438del	VAR_013759	inframe_deletion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.His447Gln	rs772124520	missense variant	-	NC_000023.11:g.10459752G>C	ExAC,gnomAD
MID1	O15344	p.His447Tyr	rs1320558372	missense variant	-	NC_000023.11:g.10459754G>A	gnomAD
MID1	O15344	p.Tyr448His	RCV000719817	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.10459751A>G	ClinVar
MID1	O15344	p.Thr449Met	rs201454444	missense variant	-	NC_000023.11:g.10459747G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly452Ser	rs1556004404	missense variant	-	NC_000023.11:g.10459739C>T	-
MID1	O15344	p.Gly452Ser	RCV000657884	missense variant	-	NC_000023.11:g.10459739C>T	ClinVar
MID1	O15344	p.Gln454Arg	RCV000659851	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459732T>C	ClinVar
MID1	O15344	p.Gly456Ser	rs746602154	missense variant	-	NC_000023.11:g.10459727C>T	ExAC,gnomAD
MID1	O15344	p.Thr457Ile	rs1335896786	missense variant	-	NC_000023.11:g.10459723G>A	TOPMed
MID1	O15344	p.Met462Thr	rs1487662491	missense variant	-	NC_000023.11:g.10459708A>G	gnomAD
MID1	O15344	p.Met462Ile	rs1291943707	missense variant	-	NC_000023.11:g.10459707C>T	gnomAD
MID1	O15344	p.Lys464Arg	rs757888585	missense variant	-	NC_000023.11:g.10459702T>C	ExAC,gnomAD
MID1	O15344	p.Ala465Pro	rs1556004366	missense variant	-	NC_000023.11:g.10459700C>G	-
MID1	O15344	p.Ala465Pro	RCV000659852	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459700C>G	ClinVar
MID1	O15344	p.Gln468Arg	rs967412425	missense variant	-	NC_000023.11:g.10459690T>C	TOPMed
MID1	O15344	p.Ala469Ser	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>A	TOPMed,gnomAD
MID1	O15344	p.Ala469Thr	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>T	TOPMed,gnomAD
MID1	O15344	p.Ala469Val	rs1311942233	missense variant	-	NC_000023.11:g.10459687G>A	gnomAD
MID1	O15344	p.Gly470Asp	rs761537930	missense variant	-	NC_000023.11:g.10459684C>T	gnomAD
MID1	O15344	p.Ser471Cys	rs749981475	missense variant	-	NC_000023.11:g.10459682T>A	ExAC,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser471Gly	rs749981475	missense variant	-	NC_000023.11:g.10459682T>C	ExAC,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg472Cys	rs1339922842	missense variant	-	NC_000023.11:g.10459679G>A	TOPMed,gnomAD
MID1	O15344	p.Arg472His	rs370465458	missense variant	-	NC_000023.11:g.10459678C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser473Asn	rs200124370	missense variant	-	NC_000023.11:g.10459675C>T	1000Genomes,ExAC
MID1	O15344	p.Ser483Ter	RCV000180149	frameshift	-	NC_000023.11:g.10459649_10459652dup	ClinVar
MID1	O15344	p.Pro485Ter	RCV000659853	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455072del	ClinVar
MID1	O15344	p.Lys491Thr	rs758089179	missense variant	-	NC_000023.11:g.10455053T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys491Arg	rs758089179	missense variant	-	NC_000023.11:g.10455053T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.His494Tyr	rs373136825	missense variant	-	NC_000023.11:g.10455045G>A	ESP,TOPMed
MID1	O15344	p.Arg495Gln	rs1430919712	missense variant	-	NC_000023.11:g.10455041C>T	TOPMed,gnomAD
MID1	O15344	p.Arg495Ter	RCV000659854	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Ter	RCV000627230	nonsense	-	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Ter	rs745554420	stop gained	-	NC_000023.11:g.10455042G>A	ExAC,gnomAD
MID1	O15344	p.Leu504Phe	rs370948485	missense variant	-	NC_000023.11:g.10455013C>G	ESP,ExAC,gnomAD
MID1	O15344	p.Thr505Arg	rs145973480	missense variant	-	NC_000023.11:g.10455011G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg508Cys	rs1401866525	missense variant	-	NC_000023.11:g.10455003G>A	TOPMed
MID1	O15344	p.Arg508His	rs376241755	missense variant	-	NC_000023.11:g.10455002C>T	ESP,ExAC,gnomAD
MID1	O15344	p.Glu510Gly	rs1225629827	missense variant	-	NC_000023.11:g.10454996T>C	gnomAD
MID1	O15344	p.Ser513Pro	RCV000180496	missense variant	-	NC_000023.11:g.10454988A>G	ClinVar
MID1	O15344	p.Ser513Pro	rs794727956	missense variant	-	NC_000023.11:g.10454988A>G	-
MID1	O15344	p.Thr518Ter	RCV000011559	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454978_10454979CT[1]	ClinVar
MID1	O15344	p.Glu520Ter	RCV000011554	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454967dup	ClinVar
MID1	O15344	p.Arg521Leu	rs369909019	missense variant	-	NC_000023.11:g.10454963C>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521His	rs369909019	missense variant	-	NC_000023.11:g.10454963C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521Cys	rs149482288	missense variant	-	NC_000023.11:g.10454964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521His	RCV000490086	missense variant	-	NC_000023.11:g.10454963C>T	ClinVar
MID1	O15344	p.Arg521Cys	RCV000180497	missense variant	-	NC_000023.11:g.10454964G>A	ClinVar
MID1	O15344	p.Thr523Ala	rs774726726	missense variant	-	NC_000023.11:g.10454958T>C	ExAC
MID1	O15344	p.Gly529Ala	rs1339873549	missense variant	-	NC_000023.11:g.10454939C>G	TOPMed
MID1	O15344	p.Val530Ile	rs763005757	missense variant	-	NC_000023.11:g.10454937C>T	ExAC,gnomAD
MID1	O15344	p.Ala531Val	rs776614617	missense variant	-	NC_000023.11:g.10454933G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn533Thr	rs1279961984	missense variant	-	NC_000023.11:g.10454927T>G	TOPMed
MID1	O15344	p.Val534Met	rs1338268932	missense variant	-	NC_000023.11:g.10454925C>T	gnomAD
MID1	O15344	p.Val534Gly	rs1464286489	missense variant	-	NC_000023.11:g.10454924A>C	gnomAD
MID1	O15344	p.Val534insValPheIleAspSerGlyArgHisLeu	VAR_013760	inframe_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ile536Thr	VAR_013761	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ser538Thr	rs775227924	missense variant	-	NC_000023.11:g.10454912C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser538Ter	RCV000659855	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454916_10454919dup	ClinVar
MID1	O15344	p.Arg540Trp	rs1420374178	missense variant	-	NC_000023.11:g.10454907G>A	gnomAD
MID1	O15344	p.Val546Ile	rs771878559	missense variant	-	NC_000023.11:g.10454889C>T	ExAC,gnomAD
MID1	O15344	p.Ile555Leu	rs398123341	missense variant	-	NC_000023.11:g.10449709T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Val	rs398123341	missense variant	-	NC_000023.11:g.10449709T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Val	RCV000659856	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449709T>C	ClinVar
MID1	O15344	p.Ile555Leu	RCV000078677	missense variant	-	NC_000023.11:g.10449709T>G	ClinVar
MID1	O15344	p.Lys560Arg	rs1057520313	missense variant	-	NC_000023.11:g.10449693T>C	-
MID1	O15344	p.Lys560Arg	RCV000440069	missense variant	-	NC_000023.11:g.10449693T>C	ClinVar
MID1	O15344	p.Ala562Val	rs1489299753	missense variant	-	NC_000023.11:g.10449687G>A	gnomAD
MID1	O15344	p.Pro563Leu	rs750506306	missense variant	-	NC_000023.11:g.10449684G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys564Gln	rs1184266835	missense variant	-	NC_000023.11:g.10449682T>G	gnomAD
MID1	O15344	p.His565Asn	rs1360715026	missense variant	-	NC_000023.11:g.10449679G>T	gnomAD
MID1	O15344	p.Ile568Val	rs1387762588	missense variant	-	NC_000023.11:g.10449670T>C	TOPMed
MID1	O15344	p.Ile568Thr	rs775422871	missense variant	-	NC_000023.11:g.10449669A>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Trp575Ter	rs1556001968	stop gained	-	NC_000023.11:g.10449647C>T	-
MID1	O15344	p.Trp575Ter	RCV000659857	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449647C>T	ClinVar
MID1	O15344	p.Ala576Val	rs773980150	missense variant	-	NC_000023.11:g.10449645G>A	ExAC,gnomAD
MID1	O15344	p.Arg579Cys	rs770539991	missense variant	-	NC_000023.11:g.10449637G>A	ExAC,gnomAD
MID1	O15344	p.Arg579His	rs761774660	missense variant	-	NC_000023.11:g.10449636C>T	ExAC,gnomAD
MID1	O15344	p.Asn583Ser	rs1457192745	missense variant	-	NC_000023.11:g.10449624T>C	gnomAD
MID1	O15344	p.Val586Leu	rs777097030	missense variant	-	NC_000023.11:g.10449616C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val586Met	rs777097030	missense variant	-	NC_000023.11:g.10449616C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg587Thr	rs748598463	missense variant	-	NC_000023.11:g.10449612C>G	ExAC,gnomAD
MID1	O15344	p.His588Asn	rs760349065	missense variant	-	NC_000023.11:g.10449610G>T	1000Genomes
MID1	O15344	p.Asn589Asp	rs1556001939	missense variant	-	NC_000023.11:g.10449607T>C	-
MID1	O15344	p.Asn589Asp	RCV000626680	missense variant	Hypertelorism	NC_000023.11:g.10449607T>C	ClinVar
MID1	O15344	p.Ile595Leu	rs1329135216	missense variant	-	NC_000023.11:g.10449589T>G	TOPMed
MID1	O15344	p.Pro597Ser	rs988941083	missense variant	-	NC_000023.11:g.10449583G>A	TOPMed
MID1	O15344	p.Ala598Val	rs369262421	missense variant	-	NC_000023.11:g.10449579G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala598Gly	rs369262421	missense variant	-	NC_000023.11:g.10449579G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Pro599Ala	rs1352607382	missense variant	-	NC_000023.11:g.10449577G>C	TOPMed
MID1	O15344	p.His600Asp	rs1802191	missense variant	-	NC_000023.11:g.10449574G>C	TOPMed,gnomAD
MID1	O15344	p.His600Tyr	rs1802191	missense variant	-	NC_000023.11:g.10449574G>A	TOPMed,gnomAD
MID1	O15344	p.His600Ter	RCV000173680	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.His600Ter	RCV000790799	frameshift	-	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.Arg602Gln	rs758507303	missense variant	-	NC_000023.11:g.10449567C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg602Trp	rs780389420	missense variant	-	NC_000023.11:g.10449568G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg603His	rs750682655	missense variant	-	NC_000023.11:g.10449564C>T	ExAC,gnomAD
MID1	O15344	p.Val604Met	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>T	TOPMed,gnomAD
MID1	O15344	p.Val604Leu	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>A	TOPMed,gnomAD
MID1	O15344	p.Asn612Ser	rs757366426	missense variant	-	NC_000023.11:g.10449537T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly613Ser	rs1205719863	missense variant	-	NC_000023.11:g.10449535C>T	TOPMed
MID1	O15344	p.Ser614Phe	rs767500744	missense variant	-	NC_000023.11:g.10449531G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile615Val	rs1473385224	missense variant	-	NC_000023.11:g.10449529T>C	TOPMed
MID1	O15344	p.Ala616Thr	rs1169366982	missense variant	-	NC_000023.11:g.10449526C>T	gnomAD
MID1	O15344	p.Tyr618Phe	rs1421698210	missense variant	-	NC_000023.11:g.10449519T>A	gnomAD
MID1	O15344	p.Ala620Ser	rs766217789	missense variant	-	NC_000023.11:g.10449514C>A	ExAC,gnomAD
MID1	O15344	p.Ala620Val	rs762453585	missense variant	-	NC_000023.11:g.10449513G>A	ExAC,gnomAD
MID1	O15344	p.Ser623Tyr	rs1197360854	missense variant	-	NC_000023.11:g.10449504G>T	gnomAD
MID1	O15344	p.Leu626Phe	rs772922068	missense variant	-	NC_000023.11:g.10449496G>A	ExAC,gnomAD
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt,dbSNP
MID1	O15344	p.Leu626Pro	VAR_013762	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	-	NC_000023.11:g.10449495A>G	-
MID1	O15344	p.Leu626Pro	RCV000011555	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449495A>G	ClinVar
MID1	O15344	p.Tyr627Ter	rs1556001856	stop gained	-	NC_000023.11:g.10449491G>T	-
MID1	O15344	p.Tyr627Ter	RCV000659858	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449491G>T	ClinVar
MID1	O15344	p.Thr628Asn	rs769182755	missense variant	-	NC_000023.11:g.10449489G>T	ExAC,gnomAD
MID1	O15344	p.Asp630Asn	rs150291968	missense variant	-	NC_000023.11:g.10449484C>T	ESP,TOPMed
MID1	O15344	p.Asp630Asn	RCV000780411	missense variant	-	NC_000023.11:g.10449484C>T	ClinVar
MID1	O15344	p.Val631Phe	rs769324197	missense variant	-	NC_000023.11:g.10449481C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val631Ile	rs769324197	missense variant	-	NC_000023.11:g.10449481C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Thr	rs747547954	missense variant	-	NC_000023.11:g.10449478C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Ser	rs747547954	missense variant	-	NC_000023.11:g.10449478C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala634Val	rs944621690	missense variant	-	NC_000023.11:g.10449471G>A	TOPMed
MID1	O15344	p.Gln635Arg	rs758806928	missense variant	-	NC_000023.11:g.10449468T>C	ExAC,gnomAD
MID1	O15344	p.Cys638Trp	rs746014431	missense variant	-	NC_000023.11:g.10449458G>C	ExAC,gnomAD
MID1	O15344	p.Pro639Leu	rs779265828	missense variant	-	NC_000023.11:g.10449456G>A	ExAC,gnomAD
MID1	O15344	p.Pro639Ser	rs1333314044	missense variant	-	NC_000023.11:g.10449457G>A	gnomAD
MID1	O15344	p.Thr640Ter	RCV000754789	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449458del	ClinVar
MID1	O15344	p.Lys646Arg	rs757315836	missense variant	-	NC_000023.11:g.10449435T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys646Met	rs757315836	missense variant	-	NC_000023.11:g.10449435T>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile650Thr	rs1341135609	missense variant	-	NC_000023.11:g.10449423A>G	TOPMed
MID1	O15344	p.Ile656Val	rs371705269	missense variant	-	NC_000023.11:g.10449406T>C	ESP,ExAC,TOPMed
MID1	O15344	p.His659Tyr	rs751510252	missense variant	-	NC_000023.11:g.10449397G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp661Glu	rs767075372	missense variant	-	NC_000023.11:g.10449389G>C	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Thr663Ile	rs138558359	missense variant	-	NC_000023.11:g.10449384G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr663Ile	RCV000078679	missense variant	-	NC_000023.11:g.10449384G>A	ClinVar
MID1	O15344	p.Gln665His	rs1438198955	missense variant	-	NC_000023.11:g.10449377C>G	gnomAD
MID1	O15344	p.Pro667Leu	rs147106995	missense variant	-	NC_000023.11:g.10449372G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Pro667Leu	RCV000659859	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449372G>A	ClinVar
MID1	O15344	p.Thr9Ile	rs1247267423	missense variant	-	NC_000023.11:g.10567522G>A	TOPMed,gnomAD
MID1	O15344	p.Ile12Val	RCV000500062	missense variant	-	NC_000023.11:g.10567514T>C	ClinVar
MID1	O15344	p.Ile12Val	rs1555905454	missense variant	-	NC_000023.11:g.10567514T>C	-
MID1	O15344	p.Pro20Leu	rs1199518877	missense variant	-	NC_000023.11:g.10567489G>A	gnomAD
MID1	O15344	p.Ser28Asn	rs1001131284	missense variant	-	NC_000023.11:g.10567465C>T	TOPMed
MID1	O15344	p.Ala34Val	rs1366033152	missense variant	-	NC_000023.11:g.10567447G>A	gnomAD
MID1	O15344	p.Ala34Thr	rs201407794	missense variant	-	NC_000023.11:g.10567448C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.His35Asp	rs1230622754	missense variant	-	NC_000023.11:g.10567445G>C	gnomAD
MID1	O15344	p.His35Gln	rs781375702	missense variant	-	NC_000023.11:g.10567443G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg36His	rs1270080835	missense variant	-	NC_000023.11:g.10567441C>T	gnomAD
MID1	O15344	p.Ile37Asn	rs755238099	missense variant	-	NC_000023.11:g.10567438A>T	ExAC,gnomAD
MID1	O15344	p.His41Arg	rs747064197	missense variant	-	NC_000023.11:g.10567426T>C	ExAC,gnomAD
MID1	O15344	p.His41Pro	rs747064197	missense variant	-	NC_000023.11:g.10567426T>G	ExAC,gnomAD
MID1	O15344	p.Thr44Ala	rs779960944	missense variant	-	NC_000023.11:g.10567418T>C	ExAC,gnomAD
MID1	O15344	p.Thr44Ile	rs758530606	missense variant	-	NC_000023.11:g.10567417G>A	ExAC
MID1	O15344	p.Asn45Lys	rs996298206	missense variant	-	NC_000023.11:g.10567413G>T	TOPMed
MID1	O15344	p.Asn45Ser	rs753662440	missense variant	-	NC_000023.11:g.10567414T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu46Lys	rs1170099584	missense variant	-	NC_000023.11:g.10567412C>T	gnomAD
MID1	O15344	p.Ser50Cys	rs1388869848	missense variant	-	NC_000023.11:g.10567399G>C	TOPMed
MID1	O15344	p.Ile51Val	rs764098546	missense variant	-	NC_000023.11:g.10567397T>C	ExAC,gnomAD
MID1	O15344	p.Ala53Thr	rs147970950	missense variant	-	NC_000023.11:g.10567391C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr58Pro	rs767256051	missense variant	-	NC_000023.11:g.10567376T>G	ExAC,gnomAD
MID1	O15344	p.Thr58Ile	rs1379754388	missense variant	-	NC_000023.11:g.10567375G>A	TOPMed
MID1	O15344	p.Arg60Trp	rs1470523331	missense variant	-	NC_000023.11:g.10567370G>A	TOPMed,gnomAD
MID1	O15344	p.Arg60Gln	rs759189233	missense variant	-	NC_000023.11:g.10567369C>T	1000Genomes
MID1	O15344	p.Thr64Ser	rs759223555	missense variant	-	NC_000023.11:g.10567357G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr64Asn	rs759223555	missense variant	-	NC_000023.11:g.10567357G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg68Gln	rs765748631	missense variant	-	NC_000023.11:g.10567345C>T	ExAC,gnomAD
MID1	O15344	p.Gly72Arg	rs1220297223	missense variant	-	NC_000023.11:g.10567334C>T	gnomAD
MID1	O15344	p.Lys74Arg	rs1266823249	missense variant	-	NC_000023.11:g.10567327T>C	TOPMed
MID1	O15344	p.Val77Ile	rs143416243	missense variant	-	NC_000023.11:g.10567319C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Val77Ile	RCV000499934	missense variant	-	NC_000023.11:g.10567319C>T	ClinVar
MID1	O15344	p.Gln80Ter	rs770387204	stop gained	-	NC_000023.11:g.10567310G>A	ExAC,gnomAD
MID1	O15344	p.Gln80His	rs1043173800	missense variant	-	NC_000023.11:g.10567308C>G	gnomAD
MID1	O15344	p.Asp84Glu	rs1441326944	missense variant	-	NC_000023.11:g.10567296G>T	TOPMed
MID1	O15344	p.Asp84Asn	rs374851071	missense variant	-	NC_000023.11:g.10567298C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg85Ser	rs149218019	missense variant	-	NC_000023.11:g.10567293C>A	ESP,TOPMed
MID1	O15344	p.Ala89Thr	rs1407207268	missense variant	-	NC_000023.11:g.10567283C>T	TOPMed
MID1	O15344	p.Gly93Arg	rs747187740	missense variant	-	NC_000023.11:g.10567271C>T	ExAC,gnomAD
MID1	O15344	p.Gly93Glu	rs1366901870	missense variant	-	NC_000023.11:g.10567270C>T	TOPMed
MID1	O15344	p.Asn95Ser	rs780339406	missense variant	-	NC_000023.11:g.10567264T>C	ExAC,gnomAD
MID1	O15344	p.Thr100Asn	rs147727283	missense variant	-	NC_000023.11:g.10567249G>T	ESP
MID1	O15344	p.Arg101His	rs202142461	missense variant	-	NC_000023.11:g.10567246C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg101Cys	rs746029175	missense variant	-	NC_000023.11:g.10567247G>A	ExAC,gnomAD
MID1	O15344	p.Arg102Trp	rs756170550	missense variant	-	NC_000023.11:g.10567244G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Gln	rs200381037	missense variant	-	NC_000023.11:g.10567243C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg104Gln	rs199516073	missense variant	-	NC_000023.11:g.10567237C>T	TOPMed
MID1	O15344	p.Arg104Trp	rs767372071	missense variant	-	NC_000023.11:g.10567238G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala105Thr	rs1352145801	missense variant	-	NC_000023.11:g.10567235C>T	gnomAD
MID1	O15344	p.Ala108Gly	rs751104556	missense variant	-	NC_000023.11:g.10567225G>C	ExAC,gnomAD
MID1	O15344	p.Ala114Thr	RCV000478970	missense variant	-	NC_000023.11:g.10567208C>T	ClinVar
MID1	O15344	p.Ala114Thr	rs749995175	missense variant	-	NC_000023.11:g.10567208C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala114Ser	rs749995175	missense variant	-	NC_000023.11:g.10567208C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu115Lys	rs104894865	missense variant	-	NC_000023.11:g.10567205C>T	TOPMed,gnomAD
MID1	O15344	p.Glu115Gln	rs104894865	missense variant	-	NC_000023.11:g.10567205C>G	TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	rs104894865	stop gained	-	NC_000023.11:g.10567205C>A	TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	RCV000011556	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10567205C>A	ClinVar
MID1	O15344	p.Leu118Phe	rs1372240598	missense variant	-	NC_000023.11:g.10567196G>A	gnomAD
MID1	O15344	p.Gln124Arg	rs762272910	missense variant	-	NC_000023.11:g.10567177T>C	ExAC
MID1	O15344	p.Pro126Ser	rs1258308744	missense variant	-	NC_000023.11:g.10567172G>A	TOPMed
MID1	O15344	p.Lys132Asn	rs927091019	missense variant	-	NC_000023.11:g.10567152C>A	TOPMed
MID1	O15344	p.Glu144Lys	rs371028819	missense variant	-	NC_000023.11:g.10567118C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu144Ala	rs772398285	missense variant	-	NC_000023.11:g.10567117T>G	ExAC
MID1	O15344	p.Gly158Ser	rs748040551	missense variant	-	NC_000023.11:g.10567076C>T	ExAC,gnomAD
MID1	O15344	p.Ile165Phe	rs1171605375	missense variant	-	NC_000023.11:g.10567055T>A	TOPMed
MID1	O15344	p.Pro166Leu	rs781279006	missense variant	-	NC_000023.11:g.10567051G>A	ExAC,gnomAD
MID1	O15344	p.Ser168Phe	rs1270408199	missense variant	-	NC_000023.11:g.10567045G>A	gnomAD
MID1	O15344	p.Arg171Trp	rs1464375714	missense variant	-	NC_000023.11:g.10567037G>A	TOPMed
MID1	O15344	p.Met174Ile	rs1316707756	missense variant	-	NC_000023.11:g.10567026C>T	gnomAD
MID1	O15344	p.Cys175Tyr	rs1290082018	missense variant	-	NC_000023.11:g.10567024C>T	gnomAD
MID1	O15344	p.Val183Met	rs1376311711	missense variant	-	NC_000023.11:g.10567001C>T	gnomAD
MID1	O15344	p.Asn184Lys	rs368927481	missense variant	-	NC_000023.11:g.10566996A>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Met185Arg	rs992236377	missense variant	-	NC_000023.11:g.10566994A>C	TOPMed
MID1	O15344	p.Arg203Trp	rs1452714186	missense variant	-	NC_000023.11:g.10566941G>A	gnomAD
MID1	O15344	p.Arg203Gln	rs754279780	missense variant	-	NC_000023.11:g.10566940C>T	ExAC,gnomAD
MID1	O15344	p.Arg205Cys	rs965275724	missense variant	-	NC_000023.11:g.10566935G>A	gnomAD
MID1	O15344	p.His207Gln	rs1383446204	missense variant	-	NC_000023.11:g.10566927A>C	gnomAD
MID1	O15344	p.Ala210Thr	rs374812607	missense variant	-	NC_000023.11:g.10566920C>T	ESP,gnomAD
MID1	O15344	p.Ala211Val	rs1250379544	missense variant	-	NC_000023.11:g.10566916G>A	gnomAD
MID1	O15344	p.Leu219Ser	rs746168447	missense variant	-	NC_000023.11:g.10566892A>G	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Gln221Lys	rs774710060	missense variant	-	NC_000023.11:g.10523187G>T	ExAC
MID1	O15344	p.Asn222Lys	rs766764184	missense variant	-	NC_000023.11:g.10523182G>T	ExAC
MID1	O15344	p.Asn222Asp	rs1320017604	missense variant	-	NC_000023.11:g.10523184T>C	TOPMed
MID1	O15344	p.Glu224Asp	rs1305140739	missense variant	-	NC_000023.11:g.10523176C>G	gnomAD
MID1	O15344	p.Ser225Asn	rs763101201	missense variant	-	NC_000023.11:g.10523174C>T	ExAC,gnomAD
MID1	O15344	p.Leu227Phe	rs750948750	missense variant	-	NC_000023.11:g.10523169G>A	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Asn229Ser	rs202082858	missense variant	-	NC_000023.11:g.10523162T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn229Tyr	rs769792761	missense variant	-	NC_000023.11:g.10523163T>A	ExAC,gnomAD
MID1	O15344	p.Ile231Thr	rs1483794967	missense variant	-	NC_000023.11:g.10523156A>G	TOPMed
MID1	O15344	p.Ile231Phe	rs1250928460	missense variant	-	NC_000023.11:g.10523157T>A	TOPMed
MID1	O15344	p.Asn234Lys	rs1405782698	missense variant	-	NC_000023.11:g.10523146G>C	TOPMed,gnomAD
MID1	O15344	p.Glu238Ter	rs387906719	stop gained	-	NC_000023.11:g.10523136C>A	-
MID1	O15344	p.Glu238Ter	RCV000022867	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10523136C>A	ClinVar
MID1	O15344	p.Thr239Ala	rs771836382	missense variant	-	NC_000023.11:g.10523133T>C	ExAC
MID1	O15344	p.Ala242Ser	rs1361646972	missense variant	-	NC_000023.11:g.10523124C>A	gnomAD
MID1	O15344	p.Ala242Asp	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>T	TOPMed,gnomAD
MID1	O15344	p.Ala242Val	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>A	TOPMed,gnomAD
MID1	O15344	p.Val253Ile	rs1480264678	missense variant	-	NC_000023.11:g.10495691C>T	gnomAD
MID1	O15344	p.Arg257His	rs747668073	missense variant	-	NC_000023.11:g.10495678C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg257Cys	rs755644971	missense variant	-	NC_000023.11:g.10495679G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala260Thr	rs781707475	missense variant	-	NC_000023.11:g.10495670C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys261Ter	RCV000178081	frameshift	-	NC_000023.11:g.10495667del	ClinVar
MID1	O15344	p.Glu264Gly	rs1229360357	missense variant	-	NC_000023.11:g.10495657T>C	TOPMed
MID1	O15344	p.Cys266Arg	VAR_013758	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Leu268His	rs1326064853	missense variant	-	NC_000023.11:g.10495645A>T	gnomAD
MID1	O15344	p.Arg277Ter	rs1555895704	stop gained	-	NC_000023.11:g.10495619G>A	-
MID1	O15344	p.Arg277Ter	RCV000659849	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10495619G>A	ClinVar
MID1	O15344	p.Arg277Gln	rs1261715086	missense variant	-	NC_000023.11:g.10495618C>T	TOPMed,gnomAD
MID1	O15344	p.Gln278Arg	rs1222510983	missense variant	-	NC_000023.11:g.10495615T>C	gnomAD
MID1	O15344	p.Ile284Val	rs1171594481	missense variant	-	NC_000023.11:g.10495598T>C	gnomAD
MID1	O15344	p.Met290Ile	rs1203361279	missense variant	-	NC_000023.11:g.10482623C>G	gnomAD
MID1	O15344	p.Arg291Lys	rs774294547	missense variant	-	NC_000023.11:g.10482621C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg293His	rs899677777	missense variant	-	NC_000023.11:g.10482615C>T	TOPMed
MID1	O15344	p.Lys294Arg	rs1285865197	missense variant	-	NC_000023.11:g.10482612T>C	gnomAD
MID1	O15344	p.Leu295Pro	RCV000011558	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482609A>G	ClinVar
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	-	NC_000023.11:g.10482609A>G	-
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt,dbSNP
MID1	O15344	p.Leu295Pro	VAR_025495	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt
MID1	O15344	p.Ile299Thr	rs1206390719	missense variant	-	NC_000023.11:g.10482597A>G	gnomAD
MID1	O15344	p.Ile306Val	rs1284334406	missense variant	-	NC_000023.11:g.10482577T>C	gnomAD
MID1	O15344	p.Arg308Trp	rs149787593	missense variant	-	NC_000023.11:g.10482571G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg308Gln	rs762802896	missense variant	-	NC_000023.11:g.10482570C>T	ExAC,gnomAD
MID1	O15344	p.Arg308Ter	RCV000659850	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482571del	ClinVar
MID1	O15344	p.Ala316Glu	rs398123344	missense variant	-	NC_000023.11:g.10482546G>T	TOPMed
MID1	O15344	p.Ala316Val	rs398123344	missense variant	-	NC_000023.11:g.10482546G>A	TOPMed
MID1	O15344	p.Ala316Glu	RCV000078684	missense variant	-	NC_000023.11:g.10482546G>T	ClinVar
MID1	O15344	p.His318Gln	rs1399226678	missense variant	-	NC_000023.11:g.10482539G>C	gnomAD
MID1	O15344	p.His325Pro	rs1163978469	missense variant	-	NC_000023.11:g.10482519T>G	gnomAD
MID1	O15344	p.Arg327Cys	rs1483645727	missense variant	-	NC_000023.11:g.10482514G>A	TOPMed
MID1	O15344	p.Asn334Ser	rs1205263035	missense variant	-	NC_000023.11:g.10482492T>C	TOPMed
MID1	O15344	p.Glu337Lys	rs747456797	missense variant	-	NC_000023.11:g.10482484C>T	ExAC
MID1	O15344	p.Ser340Pro	rs1205933022	missense variant	-	NC_000023.11:g.10474746A>G	gnomAD
MID1	O15344	p.Ser346Pro	rs1160642369	missense variant	-	NC_000023.11:g.10474728A>G	TOPMed,gnomAD
MID1	O15344	p.Gln347His	rs1239445670	missense variant	-	NC_000023.11:g.10474723C>A	gnomAD
MID1	O15344	p.Ile353Thr	rs777949146	missense variant	-	NC_000023.11:g.10474706A>G	ExAC,gnomAD
MID1	O15344	p.Asn354Lys	rs756366511	missense variant	-	NC_000023.11:g.10474702G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn356Ser	rs748399428	missense variant	-	NC_000023.11:g.10474697T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr361Ser	rs750257635	missense variant	-	NC_000023.11:g.10474682G>C	ExAC,gnomAD
MID1	O15344	p.Leu364Ile	rs765282014	missense variant	-	NC_000023.11:g.10474674A>T	ExAC,gnomAD
MID1	O15344	p.Arg368Gln	rs753740212	missense variant	-	NC_000023.11:g.10474661C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Tyr378His	rs1373430724	missense variant	-	NC_000023.11:g.10474632A>G	gnomAD
MID1	O15344	p.Pro385Ala	rs200213912	missense variant	-	NC_000023.11:g.10469829G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr386Ile	rs1265184704	missense variant	-	NC_000023.11:g.10469825G>A	gnomAD
MID1	O15344	p.Arg388Thr	rs771515674	missense variant	-	NC_000023.11:g.10469819C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu389Lys	rs1486145790	missense variant	-	NC_000023.11:g.10469817C>T	gnomAD
MID1	O15344	p.Leu391_Cys392delinsArg	VAR_025496	deletion_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Cys392Tyr	rs1261435013	missense variant	-	NC_000023.11:g.10469807C>T	gnomAD
MID1	O15344	p.Ala394Pro	rs948448691	missense variant	-	NC_000023.11:g.10469802C>G	TOPMed
MID1	O15344	p.Ser395Ter	rs1210633665	stop gained	-	NC_000023.11:g.10469798G>T	gnomAD
MID1	O15344	p.Thr398Ala	rs1366882934	missense variant	-	NC_000023.11:g.10469790T>C	gnomAD
MID1	O15344	p.Thr400Ala	rs1423462435	missense variant	-	NC_000023.11:g.10469784T>C	gnomAD
MID1	O15344	p.Val401Ala	rs1169601679	missense variant	-	NC_000023.11:g.10469780A>G	gnomAD
MID1	O15344	p.Asp406Gly	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>C	TOPMed,gnomAD
MID1	O15344	p.Asp406Val	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>A	TOPMed,gnomAD
MID1	O15344	p.Asp407His	rs768610642	missense variant	-	NC_000023.11:g.10469763C>G	ExAC,gnomAD
MID1	O15344	p.Ser410Thr	rs1280587582	missense variant	-	NC_000023.11:g.10469753C>G	TOPMed
MID1	O15344	p.Val411Met	rs778696153	missense variant	-	NC_000023.11:g.10469751C>T	ExAC,gnomAD
MID1	O15344	p.Thr419Ile	rs1466434678	missense variant	-	NC_000023.11:g.10469726G>A	TOPMed
MID1	O15344	p.Gly423Arg	rs1002864796	missense variant	-	NC_000023.11:g.10469715C>T	TOPMed
MID1	O15344	p.Ala425Thr	rs1337827121	missense variant	-	NC_000023.11:g.10469709C>T	gnomAD
MID1	O15344	p.Val427Ile	rs755985917	missense variant	-	NC_000023.11:g.10469703C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val428Ile	rs1280989248	missense variant	-	NC_000023.11:g.10469700C>T	TOPMed,gnomAD
MID1	O15344	p.Val428Ile	RCV000729030	missense variant	-	NC_000023.11:g.10469700C>T	ClinVar
MID1	O15344	p.Ser429Asn	rs768937441	missense variant	-	NC_000023.11:g.10459807C>T	ExAC,gnomAD
MID1	O15344	p.Ser433Leu	rs780880323	missense variant	-	NC_000023.11:g.10459795G>A	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.AlaAsp434AlaAspTerUnk	rs786200982	stop gained	-	NC_000023.11:g.10459788_10459791dup	-
MID1	O15344	p.Ser436Ter	RCV000180150	nonsense	-	NC_000023.11:g.10459788_10459791dup	ClinVar
MID1	O15344	p.Met438del	VAR_013759	inframe_deletion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.His447Gln	rs772124520	missense variant	-	NC_000023.11:g.10459752G>C	ExAC,gnomAD
MID1	O15344	p.His447Tyr	rs1320558372	missense variant	-	NC_000023.11:g.10459754G>A	gnomAD
MID1	O15344	p.Tyr448His	RCV000719817	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.10459751A>G	ClinVar
MID1	O15344	p.Thr449Met	rs201454444	missense variant	-	NC_000023.11:g.10459747G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly452Ser	rs1556004404	missense variant	-	NC_000023.11:g.10459739C>T	-
MID1	O15344	p.Gly452Ser	RCV000657884	missense variant	-	NC_000023.11:g.10459739C>T	ClinVar
MID1	O15344	p.Gln454Arg	RCV000659851	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459732T>C	ClinVar
MID1	O15344	p.Gln454Arg	rs1556004400	missense variant	-	NC_000023.11:g.10459732T>C	-
MID1	O15344	p.Gly456Ser	rs746602154	missense variant	-	NC_000023.11:g.10459727C>T	ExAC,gnomAD
MID1	O15344	p.Thr457Ile	rs1335896786	missense variant	-	NC_000023.11:g.10459723G>A	TOPMed
MID1	O15344	p.Met462Thr	rs1487662491	missense variant	-	NC_000023.11:g.10459708A>G	gnomAD
MID1	O15344	p.Met462Ile	rs1291943707	missense variant	-	NC_000023.11:g.10459707C>T	gnomAD
MID1	O15344	p.Lys464Arg	rs757888585	missense variant	-	NC_000023.11:g.10459702T>C	ExAC,gnomAD
MID1	O15344	p.Ala465Pro	RCV000659852	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459700C>G	ClinVar
MID1	O15344	p.Ala465Pro	rs1556004366	missense variant	-	NC_000023.11:g.10459700C>G	-
MID1	O15344	p.Gln468Arg	rs967412425	missense variant	-	NC_000023.11:g.10459690T>C	TOPMed
MID1	O15344	p.Ala469Thr	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>T	TOPMed,gnomAD
MID1	O15344	p.Ala469Ser	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>A	TOPMed,gnomAD
MID1	O15344	p.Ala469Val	rs1311942233	missense variant	-	NC_000023.11:g.10459687G>A	gnomAD
MID1	O15344	p.Gly470Asp	rs761537930	missense variant	-	NC_000023.11:g.10459684C>T	gnomAD
MID1	O15344	p.Ser471Gly	rs749981475	missense variant	-	NC_000023.11:g.10459682T>C	ExAC,gnomAD
MID1	O15344	p.Ser471Cys	rs749981475	missense variant	-	NC_000023.11:g.10459682T>A	ExAC,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg472Cys	rs1339922842	missense variant	-	NC_000023.11:g.10459679G>A	TOPMed,gnomAD
MID1	O15344	p.Arg472His	rs370465458	missense variant	-	NC_000023.11:g.10459678C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser473Asn	rs200124370	missense variant	-	NC_000023.11:g.10459675C>T	1000Genomes,ExAC
MID1	O15344	p.Ser483Ter	RCV000180149	frameshift	-	NC_000023.11:g.10459649_10459652dup	ClinVar
MID1	O15344	p.Pro485Ter	RCV000659853	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455072del	ClinVar
MID1	O15344	p.Lys491Thr	rs758089179	missense variant	-	NC_000023.11:g.10455053T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys491Arg	rs758089179	missense variant	-	NC_000023.11:g.10455053T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.His494Tyr	rs373136825	missense variant	-	NC_000023.11:g.10455045G>A	ESP,TOPMed
MID1	O15344	p.Arg495Ter	RCV000659854	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Ter	RCV000627230	nonsense	-	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Gln	rs1430919712	missense variant	-	NC_000023.11:g.10455041C>T	TOPMed,gnomAD
MID1	O15344	p.Arg495Ter	rs745554420	stop gained	-	NC_000023.11:g.10455042G>A	ExAC,gnomAD
MID1	O15344	p.Leu504Phe	rs370948485	missense variant	-	NC_000023.11:g.10455013C>G	ESP,ExAC,gnomAD
MID1	O15344	p.Thr505Arg	rs145973480	missense variant	-	NC_000023.11:g.10455011G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg508Cys	rs1401866525	missense variant	-	NC_000023.11:g.10455003G>A	TOPMed
MID1	O15344	p.Arg508His	rs376241755	missense variant	-	NC_000023.11:g.10455002C>T	ESP,ExAC,gnomAD
MID1	O15344	p.Glu510Gly	rs1225629827	missense variant	-	NC_000023.11:g.10454996T>C	gnomAD
MID1	O15344	p.Ser513Pro	rs794727956	missense variant	-	NC_000023.11:g.10454988A>G	-
MID1	O15344	p.Ser513Pro	RCV000180496	missense variant	-	NC_000023.11:g.10454988A>G	ClinVar
MID1	O15344	p.Thr518Ter	RCV000011559	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454978_10454979CT[1]	ClinVar
MID1	O15344	p.Glu520Ter	RCV000011554	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454967dup	ClinVar
MID1	O15344	p.Arg521Cys	RCV000180497	missense variant	-	NC_000023.11:g.10454964G>A	ClinVar
MID1	O15344	p.Arg521Leu	rs369909019	missense variant	-	NC_000023.11:g.10454963C>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521Cys	rs149482288	missense variant	-	NC_000023.11:g.10454964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521His	rs369909019	missense variant	-	NC_000023.11:g.10454963C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521His	RCV000490086	missense variant	-	NC_000023.11:g.10454963C>T	ClinVar
MID1	O15344	p.Thr523Ala	rs774726726	missense variant	-	NC_000023.11:g.10454958T>C	ExAC
MID1	O15344	p.Gly529Ala	rs1339873549	missense variant	-	NC_000023.11:g.10454939C>G	TOPMed
MID1	O15344	p.Val530Ile	rs763005757	missense variant	-	NC_000023.11:g.10454937C>T	ExAC,gnomAD
MID1	O15344	p.Ala531Val	rs776614617	missense variant	-	NC_000023.11:g.10454933G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn533Thr	rs1279961984	missense variant	-	NC_000023.11:g.10454927T>G	TOPMed
MID1	O15344	p.Val534Met	rs1338268932	missense variant	-	NC_000023.11:g.10454925C>T	gnomAD
MID1	O15344	p.Val534Gly	rs1464286489	missense variant	-	NC_000023.11:g.10454924A>C	gnomAD
MID1	O15344	p.Val534insValPheIleAspSerGlyArgHisLeu	VAR_013760	inframe_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ile536Thr	VAR_013761	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ser538Thr	rs775227924	missense variant	-	NC_000023.11:g.10454912C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser538Ter	RCV000659855	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454916_10454919dup	ClinVar
MID1	O15344	p.Arg540Trp	rs1420374178	missense variant	-	NC_000023.11:g.10454907G>A	gnomAD
MID1	O15344	p.Val546Ile	rs771878559	missense variant	-	NC_000023.11:g.10454889C>T	ExAC,gnomAD
MID1	O15344	p.Ile555Val	rs398123341	missense variant	-	NC_000023.11:g.10449709T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Leu	rs398123341	missense variant	-	NC_000023.11:g.10449709T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Leu	RCV000078677	missense variant	-	NC_000023.11:g.10449709T>G	ClinVar
MID1	O15344	p.Ile555Val	RCV000659856	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449709T>C	ClinVar
MID1	O15344	p.Lys560Arg	rs1057520313	missense variant	-	NC_000023.11:g.10449693T>C	-
MID1	O15344	p.Lys560Arg	RCV000440069	missense variant	-	NC_000023.11:g.10449693T>C	ClinVar
MID1	O15344	p.Ala562Val	rs1489299753	missense variant	-	NC_000023.11:g.10449687G>A	gnomAD
MID1	O15344	p.Pro563Leu	rs750506306	missense variant	-	NC_000023.11:g.10449684G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys564Gln	rs1184266835	missense variant	-	NC_000023.11:g.10449682T>G	gnomAD
MID1	O15344	p.His565Asn	rs1360715026	missense variant	-	NC_000023.11:g.10449679G>T	gnomAD
MID1	O15344	p.Ile568Val	rs1387762588	missense variant	-	NC_000023.11:g.10449670T>C	TOPMed
MID1	O15344	p.Ile568Thr	rs775422871	missense variant	-	NC_000023.11:g.10449669A>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Trp575Ter	rs1556001968	stop gained	-	NC_000023.11:g.10449647C>T	-
MID1	O15344	p.Trp575Ter	RCV000659857	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449647C>T	ClinVar
MID1	O15344	p.Ala576Val	rs773980150	missense variant	-	NC_000023.11:g.10449645G>A	ExAC,gnomAD
MID1	O15344	p.Arg579Cys	rs770539991	missense variant	-	NC_000023.11:g.10449637G>A	ExAC,gnomAD
MID1	O15344	p.Arg579His	rs761774660	missense variant	-	NC_000023.11:g.10449636C>T	ExAC,gnomAD
MID1	O15344	p.Asn583Ser	rs1457192745	missense variant	-	NC_000023.11:g.10449624T>C	gnomAD
MID1	O15344	p.Val586Leu	rs777097030	missense variant	-	NC_000023.11:g.10449616C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val586Met	rs777097030	missense variant	-	NC_000023.11:g.10449616C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg587Thr	rs748598463	missense variant	-	NC_000023.11:g.10449612C>G	ExAC,gnomAD
MID1	O15344	p.His588Asn	rs760349065	missense variant	-	NC_000023.11:g.10449610G>T	1000Genomes
MID1	O15344	p.Asn589Asp	RCV000626680	missense variant	Hypertelorism	NC_000023.11:g.10449607T>C	ClinVar
MID1	O15344	p.Asn589Asp	rs1556001939	missense variant	-	NC_000023.11:g.10449607T>C	-
MID1	O15344	p.Ile595Leu	rs1329135216	missense variant	-	NC_000023.11:g.10449589T>G	TOPMed
MID1	O15344	p.Pro597Ser	rs988941083	missense variant	-	NC_000023.11:g.10449583G>A	TOPMed
MID1	O15344	p.Ala598Val	rs369262421	missense variant	-	NC_000023.11:g.10449579G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala598Gly	rs369262421	missense variant	-	NC_000023.11:g.10449579G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Pro599Ala	rs1352607382	missense variant	-	NC_000023.11:g.10449577G>C	TOPMed
MID1	O15344	p.His600Asp	rs1802191	missense variant	-	NC_000023.11:g.10449574G>C	TOPMed,gnomAD
MID1	O15344	p.His600Tyr	rs1802191	missense variant	-	NC_000023.11:g.10449574G>A	TOPMed,gnomAD
MID1	O15344	p.His600Ter	RCV000173680	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.His600Ter	RCV000790799	frameshift	-	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.Arg602Gln	rs758507303	missense variant	-	NC_000023.11:g.10449567C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg602Trp	rs780389420	missense variant	-	NC_000023.11:g.10449568G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg603His	rs750682655	missense variant	-	NC_000023.11:g.10449564C>T	ExAC,gnomAD
MID1	O15344	p.Val604Met	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>T	TOPMed,gnomAD
MID1	O15344	p.Val604Leu	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>A	TOPMed,gnomAD
MID1	O15344	p.Asn612Ser	rs757366426	missense variant	-	NC_000023.11:g.10449537T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly613Ser	rs1205719863	missense variant	-	NC_000023.11:g.10449535C>T	TOPMed
MID1	O15344	p.Ser614Phe	rs767500744	missense variant	-	NC_000023.11:g.10449531G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile615Val	rs1473385224	missense variant	-	NC_000023.11:g.10449529T>C	TOPMed
MID1	O15344	p.Ala616Thr	rs1169366982	missense variant	-	NC_000023.11:g.10449526C>T	gnomAD
MID1	O15344	p.Tyr618Phe	rs1421698210	missense variant	-	NC_000023.11:g.10449519T>A	gnomAD
MID1	O15344	p.Ala620Ser	rs766217789	missense variant	-	NC_000023.11:g.10449514C>A	ExAC,gnomAD
MID1	O15344	p.Ala620Val	rs762453585	missense variant	-	NC_000023.11:g.10449513G>A	ExAC,gnomAD
MID1	O15344	p.Ser623Tyr	rs1197360854	missense variant	-	NC_000023.11:g.10449504G>T	gnomAD
MID1	O15344	p.Leu626Pro	RCV000011555	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449495A>G	ClinVar
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	-	NC_000023.11:g.10449495A>G	-
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt,dbSNP
MID1	O15344	p.Leu626Pro	VAR_013762	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt
MID1	O15344	p.Leu626Phe	rs772922068	missense variant	-	NC_000023.11:g.10449496G>A	ExAC,gnomAD
MID1	O15344	p.Tyr627Ter	rs1556001856	stop gained	-	NC_000023.11:g.10449491G>T	-
MID1	O15344	p.Tyr627Ter	RCV000659858	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449491G>T	ClinVar
MID1	O15344	p.Thr628Asn	rs769182755	missense variant	-	NC_000023.11:g.10449489G>T	ExAC,gnomAD
MID1	O15344	p.Asp630Asn	rs150291968	missense variant	-	NC_000023.11:g.10449484C>T	ESP,TOPMed
MID1	O15344	p.Asp630Asn	RCV000780411	missense variant	-	NC_000023.11:g.10449484C>T	ClinVar
MID1	O15344	p.Val631Phe	rs769324197	missense variant	-	NC_000023.11:g.10449481C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val631Ile	rs769324197	missense variant	-	NC_000023.11:g.10449481C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Thr	rs747547954	missense variant	-	NC_000023.11:g.10449478C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Ser	rs747547954	missense variant	-	NC_000023.11:g.10449478C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala634Val	rs944621690	missense variant	-	NC_000023.11:g.10449471G>A	TOPMed
MID1	O15344	p.Gln635Arg	rs758806928	missense variant	-	NC_000023.11:g.10449468T>C	ExAC,gnomAD
MID1	O15344	p.Cys638Trp	rs746014431	missense variant	-	NC_000023.11:g.10449458G>C	ExAC,gnomAD
MID1	O15344	p.Pro639Leu	rs779265828	missense variant	-	NC_000023.11:g.10449456G>A	ExAC,gnomAD
MID1	O15344	p.Pro639Ser	rs1333314044	missense variant	-	NC_000023.11:g.10449457G>A	gnomAD
MID1	O15344	p.Thr640Ter	RCV000754789	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449458del	ClinVar
MID1	O15344	p.Lys646Arg	rs757315836	missense variant	-	NC_000023.11:g.10449435T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys646Met	rs757315836	missense variant	-	NC_000023.11:g.10449435T>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile650Thr	rs1341135609	missense variant	-	NC_000023.11:g.10449423A>G	TOPMed
MID1	O15344	p.Ile656Val	rs371705269	missense variant	-	NC_000023.11:g.10449406T>C	ESP,ExAC,TOPMed
MID1	O15344	p.His659Tyr	rs751510252	missense variant	-	NC_000023.11:g.10449397G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp661Glu	rs767075372	missense variant	-	NC_000023.11:g.10449389G>C	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Thr663Ile	rs138558359	missense variant	-	NC_000023.11:g.10449384G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr663Ile	RCV000078679	missense variant	-	NC_000023.11:g.10449384G>A	ClinVar
MID1	O15344	p.Gln665His	rs1438198955	missense variant	-	NC_000023.11:g.10449377C>G	gnomAD
MID1	O15344	p.Pro667Leu	RCV000659859	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449372G>A	ClinVar
MID1	O15344	p.Pro667Leu	rs147106995	missense variant	-	NC_000023.11:g.10449372G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr9Ile	rs1247267423	missense variant	-	NC_000023.11:g.10567522G>A	TOPMed,gnomAD
MID1	O15344	p.Ile12Val	RCV000500062	missense variant	-	NC_000023.11:g.10567514T>C	ClinVar
MID1	O15344	p.Ile12Val	rs1555905454	missense variant	-	NC_000023.11:g.10567514T>C	-
MID1	O15344	p.Pro20Leu	rs1199518877	missense variant	-	NC_000023.11:g.10567489G>A	gnomAD
MID1	O15344	p.Ser28Asn	rs1001131284	missense variant	-	NC_000023.11:g.10567465C>T	TOPMed
MID1	O15344	p.Ala34Val	rs1366033152	missense variant	-	NC_000023.11:g.10567447G>A	gnomAD
MID1	O15344	p.Ala34Thr	rs201407794	missense variant	-	NC_000023.11:g.10567448C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.His35Asp	rs1230622754	missense variant	-	NC_000023.11:g.10567445G>C	gnomAD
MID1	O15344	p.His35Gln	rs781375702	missense variant	-	NC_000023.11:g.10567443G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg36His	rs1270080835	missense variant	-	NC_000023.11:g.10567441C>T	gnomAD
MID1	O15344	p.Ile37Asn	rs755238099	missense variant	-	NC_000023.11:g.10567438A>T	ExAC,gnomAD
MID1	O15344	p.His41Arg	rs747064197	missense variant	-	NC_000023.11:g.10567426T>C	ExAC,gnomAD
MID1	O15344	p.His41Pro	rs747064197	missense variant	-	NC_000023.11:g.10567426T>G	ExAC,gnomAD
MID1	O15344	p.Thr44Ile	rs758530606	missense variant	-	NC_000023.11:g.10567417G>A	ExAC
MID1	O15344	p.Thr44Ala	rs779960944	missense variant	-	NC_000023.11:g.10567418T>C	ExAC,gnomAD
MID1	O15344	p.Asn45Lys	rs996298206	missense variant	-	NC_000023.11:g.10567413G>T	TOPMed
MID1	O15344	p.Asn45Ser	rs753662440	missense variant	-	NC_000023.11:g.10567414T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu46Lys	rs1170099584	missense variant	-	NC_000023.11:g.10567412C>T	gnomAD
MID1	O15344	p.Ser50Cys	rs1388869848	missense variant	-	NC_000023.11:g.10567399G>C	TOPMed
MID1	O15344	p.Ile51Val	rs764098546	missense variant	-	NC_000023.11:g.10567397T>C	ExAC,gnomAD
MID1	O15344	p.Ala53Thr	rs147970950	missense variant	-	NC_000023.11:g.10567391C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr58Ile	rs1379754388	missense variant	-	NC_000023.11:g.10567375G>A	TOPMed
MID1	O15344	p.Thr58Pro	rs767256051	missense variant	-	NC_000023.11:g.10567376T>G	ExAC,gnomAD
MID1	O15344	p.Arg60Trp	rs1470523331	missense variant	-	NC_000023.11:g.10567370G>A	TOPMed,gnomAD
MID1	O15344	p.Arg60Gln	rs759189233	missense variant	-	NC_000023.11:g.10567369C>T	1000Genomes
MID1	O15344	p.Thr64Ser	rs759223555	missense variant	-	NC_000023.11:g.10567357G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr64Asn	rs759223555	missense variant	-	NC_000023.11:g.10567357G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg68Gln	rs765748631	missense variant	-	NC_000023.11:g.10567345C>T	ExAC,gnomAD
MID1	O15344	p.Gly72Arg	rs1220297223	missense variant	-	NC_000023.11:g.10567334C>T	gnomAD
MID1	O15344	p.Lys74Arg	rs1266823249	missense variant	-	NC_000023.11:g.10567327T>C	TOPMed
MID1	O15344	p.Val77Ile	RCV000499934	missense variant	-	NC_000023.11:g.10567319C>T	ClinVar
MID1	O15344	p.Val77Ile	rs143416243	missense variant	-	NC_000023.11:g.10567319C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gln80Ter	rs770387204	stop gained	-	NC_000023.11:g.10567310G>A	ExAC,gnomAD
MID1	O15344	p.Gln80His	rs1043173800	missense variant	-	NC_000023.11:g.10567308C>G	gnomAD
MID1	O15344	p.Asp84Asn	rs374851071	missense variant	-	NC_000023.11:g.10567298C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp84Glu	rs1441326944	missense variant	-	NC_000023.11:g.10567296G>T	TOPMed
MID1	O15344	p.Arg85Ser	rs149218019	missense variant	-	NC_000023.11:g.10567293C>A	ESP,TOPMed
MID1	O15344	p.Ala89Thr	rs1407207268	missense variant	-	NC_000023.11:g.10567283C>T	TOPMed
MID1	O15344	p.Gly93Glu	rs1366901870	missense variant	-	NC_000023.11:g.10567270C>T	TOPMed
MID1	O15344	p.Gly93Arg	rs747187740	missense variant	-	NC_000023.11:g.10567271C>T	ExAC,gnomAD
MID1	O15344	p.Asn95Ser	rs780339406	missense variant	-	NC_000023.11:g.10567264T>C	ExAC,gnomAD
MID1	O15344	p.Thr100Asn	rs147727283	missense variant	-	NC_000023.11:g.10567249G>T	ESP
MID1	O15344	p.Arg101Cys	rs746029175	missense variant	-	NC_000023.11:g.10567247G>A	ExAC,gnomAD
MID1	O15344	p.Arg101His	rs202142461	missense variant	-	NC_000023.11:g.10567246C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Gln	rs200381037	missense variant	-	NC_000023.11:g.10567243C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Trp	rs756170550	missense variant	-	NC_000023.11:g.10567244G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg104Gln	rs199516073	missense variant	-	NC_000023.11:g.10567237C>T	TOPMed
MID1	O15344	p.Arg104Trp	rs767372071	missense variant	-	NC_000023.11:g.10567238G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala105Thr	rs1352145801	missense variant	-	NC_000023.11:g.10567235C>T	gnomAD
MID1	O15344	p.Ala108Gly	rs751104556	missense variant	-	NC_000023.11:g.10567225G>C	ExAC,gnomAD
MID1	O15344	p.Ala114Thr	RCV000478970	missense variant	-	NC_000023.11:g.10567208C>T	ClinVar
MID1	O15344	p.Ala114Ser	rs749995175	missense variant	-	NC_000023.11:g.10567208C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala114Thr	rs749995175	missense variant	-	NC_000023.11:g.10567208C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	RCV000011556	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10567205C>A	ClinVar
MID1	O15344	p.Glu115Lys	rs104894865	missense variant	-	NC_000023.11:g.10567205C>T	TOPMed,gnomAD
MID1	O15344	p.Glu115Gln	rs104894865	missense variant	-	NC_000023.11:g.10567205C>G	TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	rs104894865	stop gained	-	NC_000023.11:g.10567205C>A	TOPMed,gnomAD
MID1	O15344	p.Leu118Phe	rs1372240598	missense variant	-	NC_000023.11:g.10567196G>A	gnomAD
MID1	O15344	p.Gln124Arg	rs762272910	missense variant	-	NC_000023.11:g.10567177T>C	ExAC
MID1	O15344	p.Pro126Ser	rs1258308744	missense variant	-	NC_000023.11:g.10567172G>A	TOPMed
MID1	O15344	p.Lys132Asn	rs927091019	missense variant	-	NC_000023.11:g.10567152C>A	TOPMed
MID1	O15344	p.Glu144Ala	rs772398285	missense variant	-	NC_000023.11:g.10567117T>G	ExAC
MID1	O15344	p.Glu144Lys	rs371028819	missense variant	-	NC_000023.11:g.10567118C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly158Ser	rs748040551	missense variant	-	NC_000023.11:g.10567076C>T	ExAC,gnomAD
MID1	O15344	p.Ile165Phe	rs1171605375	missense variant	-	NC_000023.11:g.10567055T>A	TOPMed
MID1	O15344	p.Pro166Leu	rs781279006	missense variant	-	NC_000023.11:g.10567051G>A	ExAC,gnomAD
MID1	O15344	p.Ser168Phe	rs1270408199	missense variant	-	NC_000023.11:g.10567045G>A	gnomAD
MID1	O15344	p.Arg171Trp	rs1464375714	missense variant	-	NC_000023.11:g.10567037G>A	TOPMed
MID1	O15344	p.Met174Ile	rs1316707756	missense variant	-	NC_000023.11:g.10567026C>T	gnomAD
MID1	O15344	p.Cys175Tyr	rs1290082018	missense variant	-	NC_000023.11:g.10567024C>T	gnomAD
MID1	O15344	p.Val183Met	rs1376311711	missense variant	-	NC_000023.11:g.10567001C>T	gnomAD
MID1	O15344	p.Asn184Lys	rs368927481	missense variant	-	NC_000023.11:g.10566996A>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Met185Arg	rs992236377	missense variant	-	NC_000023.11:g.10566994A>C	TOPMed
MID1	O15344	p.Arg203Gln	rs754279780	missense variant	-	NC_000023.11:g.10566940C>T	ExAC,gnomAD
MID1	O15344	p.Arg203Trp	rs1452714186	missense variant	-	NC_000023.11:g.10566941G>A	gnomAD
MID1	O15344	p.Arg205Cys	rs965275724	missense variant	-	NC_000023.11:g.10566935G>A	gnomAD
MID1	O15344	p.His207Gln	rs1383446204	missense variant	-	NC_000023.11:g.10566927A>C	gnomAD
MID1	O15344	p.Ala210Thr	rs374812607	missense variant	-	NC_000023.11:g.10566920C>T	ESP,gnomAD
MID1	O15344	p.Ala211Val	rs1250379544	missense variant	-	NC_000023.11:g.10566916G>A	gnomAD
MID1	O15344	p.Leu219Ser	rs746168447	missense variant	-	NC_000023.11:g.10566892A>G	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Gln221Lys	rs774710060	missense variant	-	NC_000023.11:g.10523187G>T	ExAC
MID1	O15344	p.Asn222Lys	rs766764184	missense variant	-	NC_000023.11:g.10523182G>T	ExAC
MID1	O15344	p.Asn222Asp	rs1320017604	missense variant	-	NC_000023.11:g.10523184T>C	TOPMed
MID1	O15344	p.Glu224Asp	rs1305140739	missense variant	-	NC_000023.11:g.10523176C>G	gnomAD
MID1	O15344	p.Ser225Asn	rs763101201	missense variant	-	NC_000023.11:g.10523174C>T	ExAC,gnomAD
MID1	O15344	p.Leu227Phe	rs750948750	missense variant	-	NC_000023.11:g.10523169G>A	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Asn229Ser	rs202082858	missense variant	-	NC_000023.11:g.10523162T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn229Tyr	rs769792761	missense variant	-	NC_000023.11:g.10523163T>A	ExAC,gnomAD
MID1	O15344	p.Ile231Phe	rs1250928460	missense variant	-	NC_000023.11:g.10523157T>A	TOPMed
MID1	O15344	p.Ile231Thr	rs1483794967	missense variant	-	NC_000023.11:g.10523156A>G	TOPMed
MID1	O15344	p.Asn234Lys	rs1405782698	missense variant	-	NC_000023.11:g.10523146G>C	TOPMed,gnomAD
MID1	O15344	p.Glu238Ter	rs387906719	stop gained	-	NC_000023.11:g.10523136C>A	-
MID1	O15344	p.Glu238Ter	RCV000022867	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10523136C>A	ClinVar
MID1	O15344	p.Thr239Ala	rs771836382	missense variant	-	NC_000023.11:g.10523133T>C	ExAC
MID1	O15344	p.Ala242Ser	rs1361646972	missense variant	-	NC_000023.11:g.10523124C>A	gnomAD
MID1	O15344	p.Ala242Asp	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>T	TOPMed,gnomAD
MID1	O15344	p.Ala242Val	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>A	TOPMed,gnomAD
MID1	O15344	p.Val253Ile	rs1480264678	missense variant	-	NC_000023.11:g.10495691C>T	gnomAD
MID1	O15344	p.Arg257Cys	rs755644971	missense variant	-	NC_000023.11:g.10495679G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg257His	rs747668073	missense variant	-	NC_000023.11:g.10495678C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala260Thr	rs781707475	missense variant	-	NC_000023.11:g.10495670C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys261Ter	RCV000178081	frameshift	-	NC_000023.11:g.10495667del	ClinVar
MID1	O15344	p.Glu264Gly	rs1229360357	missense variant	-	NC_000023.11:g.10495657T>C	TOPMed
MID1	O15344	p.Cys266Arg	VAR_013758	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Leu268His	rs1326064853	missense variant	-	NC_000023.11:g.10495645A>T	gnomAD
MID1	O15344	p.Arg277Ter	rs1555895704	stop gained	-	NC_000023.11:g.10495619G>A	-
MID1	O15344	p.Arg277Ter	RCV000659849	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10495619G>A	ClinVar
MID1	O15344	p.Arg277Gln	rs1261715086	missense variant	-	NC_000023.11:g.10495618C>T	TOPMed,gnomAD
MID1	O15344	p.Gln278Arg	rs1222510983	missense variant	-	NC_000023.11:g.10495615T>C	gnomAD
MID1	O15344	p.Ile284Val	rs1171594481	missense variant	-	NC_000023.11:g.10495598T>C	gnomAD
MID1	O15344	p.Met290Ile	rs1203361279	missense variant	-	NC_000023.11:g.10482623C>G	gnomAD
MID1	O15344	p.Arg291Lys	rs774294547	missense variant	-	NC_000023.11:g.10482621C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg293His	rs899677777	missense variant	-	NC_000023.11:g.10482615C>T	TOPMed
MID1	O15344	p.Lys294Arg	rs1285865197	missense variant	-	NC_000023.11:g.10482612T>C	gnomAD
MID1	O15344	p.Leu295Pro	RCV000011558	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482609A>G	ClinVar
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	-	NC_000023.11:g.10482609A>G	-
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt,dbSNP
MID1	O15344	p.Leu295Pro	VAR_025495	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt
MID1	O15344	p.Ile299Thr	rs1206390719	missense variant	-	NC_000023.11:g.10482597A>G	gnomAD
MID1	O15344	p.Ile306Val	rs1284334406	missense variant	-	NC_000023.11:g.10482577T>C	gnomAD
MID1	O15344	p.Arg308Gln	rs762802896	missense variant	-	NC_000023.11:g.10482570C>T	ExAC,gnomAD
MID1	O15344	p.Arg308Trp	rs149787593	missense variant	-	NC_000023.11:g.10482571G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg308Ter	RCV000659850	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482571del	ClinVar
MID1	O15344	p.Ala316Glu	rs398123344	missense variant	-	NC_000023.11:g.10482546G>T	TOPMed
MID1	O15344	p.Ala316Val	rs398123344	missense variant	-	NC_000023.11:g.10482546G>A	TOPMed
MID1	O15344	p.Ala316Glu	RCV000078684	missense variant	-	NC_000023.11:g.10482546G>T	ClinVar
MID1	O15344	p.His318Gln	rs1399226678	missense variant	-	NC_000023.11:g.10482539G>C	gnomAD
MID1	O15344	p.His325Pro	rs1163978469	missense variant	-	NC_000023.11:g.10482519T>G	gnomAD
MID1	O15344	p.Arg327Cys	rs1483645727	missense variant	-	NC_000023.11:g.10482514G>A	TOPMed
MID1	O15344	p.Asn334Ser	rs1205263035	missense variant	-	NC_000023.11:g.10482492T>C	TOPMed
MID1	O15344	p.Glu337Lys	rs747456797	missense variant	-	NC_000023.11:g.10482484C>T	ExAC
MID1	O15344	p.Ser340Pro	rs1205933022	missense variant	-	NC_000023.11:g.10474746A>G	gnomAD
MID1	O15344	p.Ser346Pro	rs1160642369	missense variant	-	NC_000023.11:g.10474728A>G	TOPMed,gnomAD
MID1	O15344	p.Gln347His	rs1239445670	missense variant	-	NC_000023.11:g.10474723C>A	gnomAD
MID1	O15344	p.Ile353Thr	rs777949146	missense variant	-	NC_000023.11:g.10474706A>G	ExAC,gnomAD
MID1	O15344	p.Asn354Lys	rs756366511	missense variant	-	NC_000023.11:g.10474702G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn356Ser	rs748399428	missense variant	-	NC_000023.11:g.10474697T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr361Ser	rs750257635	missense variant	-	NC_000023.11:g.10474682G>C	ExAC,gnomAD
MID1	O15344	p.Leu364Ile	rs765282014	missense variant	-	NC_000023.11:g.10474674A>T	ExAC,gnomAD
MID1	O15344	p.Arg368Gln	rs753740212	missense variant	-	NC_000023.11:g.10474661C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Tyr378His	rs1373430724	missense variant	-	NC_000023.11:g.10474632A>G	gnomAD
MID1	O15344	p.Pro385Ala	rs200213912	missense variant	-	NC_000023.11:g.10469829G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr386Ile	rs1265184704	missense variant	-	NC_000023.11:g.10469825G>A	gnomAD
MID1	O15344	p.Arg388Thr	rs771515674	missense variant	-	NC_000023.11:g.10469819C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu389Lys	rs1486145790	missense variant	-	NC_000023.11:g.10469817C>T	gnomAD
MID1	O15344	p.Leu391_Cys392delinsArg	VAR_025496	deletion_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Cys392Tyr	rs1261435013	missense variant	-	NC_000023.11:g.10469807C>T	gnomAD
MID1	O15344	p.Ala394Pro	rs948448691	missense variant	-	NC_000023.11:g.10469802C>G	TOPMed
MID1	O15344	p.Ser395Ter	rs1210633665	stop gained	-	NC_000023.11:g.10469798G>T	gnomAD
MID1	O15344	p.Thr398Ala	rs1366882934	missense variant	-	NC_000023.11:g.10469790T>C	gnomAD
MID1	O15344	p.Thr400Ala	rs1423462435	missense variant	-	NC_000023.11:g.10469784T>C	gnomAD
MID1	O15344	p.Val401Ala	rs1169601679	missense variant	-	NC_000023.11:g.10469780A>G	gnomAD
MID1	O15344	p.Asp406Gly	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>C	TOPMed,gnomAD
MID1	O15344	p.Asp406Val	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>A	TOPMed,gnomAD
MID1	O15344	p.Asp407His	rs768610642	missense variant	-	NC_000023.11:g.10469763C>G	ExAC,gnomAD
MID1	O15344	p.Ser410Thr	rs1280587582	missense variant	-	NC_000023.11:g.10469753C>G	TOPMed
MID1	O15344	p.Val411Met	rs778696153	missense variant	-	NC_000023.11:g.10469751C>T	ExAC,gnomAD
MID1	O15344	p.Thr419Ile	rs1466434678	missense variant	-	NC_000023.11:g.10469726G>A	TOPMed
MID1	O15344	p.Gly423Arg	rs1002864796	missense variant	-	NC_000023.11:g.10469715C>T	TOPMed
MID1	O15344	p.Ala425Thr	rs1337827121	missense variant	-	NC_000023.11:g.10469709C>T	gnomAD
MID1	O15344	p.Val427Ile	rs755985917	missense variant	-	NC_000023.11:g.10469703C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val428Ile	rs1280989248	missense variant	-	NC_000023.11:g.10469700C>T	TOPMed,gnomAD
MID1	O15344	p.Val428Ile	RCV000729030	missense variant	-	NC_000023.11:g.10469700C>T	ClinVar
MID1	O15344	p.Ser429Asn	rs768937441	missense variant	-	NC_000023.11:g.10459807C>T	ExAC,gnomAD
MID1	O15344	p.Ser433Leu	rs780880323	missense variant	-	NC_000023.11:g.10459795G>A	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.AlaAsp434AlaAspTerUnk	rs786200982	stop gained	-	NC_000023.11:g.10459788_10459791dup	-
MID1	O15344	p.Ser436Ter	RCV000180150	nonsense	-	NC_000023.11:g.10459788_10459791dup	ClinVar
MID1	O15344	p.Met438del	VAR_013759	inframe_deletion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.His447Tyr	rs1320558372	missense variant	-	NC_000023.11:g.10459754G>A	gnomAD
MID1	O15344	p.His447Gln	rs772124520	missense variant	-	NC_000023.11:g.10459752G>C	ExAC,gnomAD
MID1	O15344	p.Tyr448His	RCV000719817	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.10459751A>G	ClinVar
MID1	O15344	p.Thr449Met	rs201454444	missense variant	-	NC_000023.11:g.10459747G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly452Ser	rs1556004404	missense variant	-	NC_000023.11:g.10459739C>T	-
MID1	O15344	p.Gly452Ser	RCV000657884	missense variant	-	NC_000023.11:g.10459739C>T	ClinVar
MID1	O15344	p.Gln454Arg	RCV000659851	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459732T>C	ClinVar
MID1	O15344	p.Gln454Arg	rs1556004400	missense variant	-	NC_000023.11:g.10459732T>C	-
MID1	O15344	p.Gly456Ser	rs746602154	missense variant	-	NC_000023.11:g.10459727C>T	ExAC,gnomAD
MID1	O15344	p.Thr457Ile	rs1335896786	missense variant	-	NC_000023.11:g.10459723G>A	TOPMed
MID1	O15344	p.Met462Ile	rs1291943707	missense variant	-	NC_000023.11:g.10459707C>T	gnomAD
MID1	O15344	p.Met462Thr	rs1487662491	missense variant	-	NC_000023.11:g.10459708A>G	gnomAD
MID1	O15344	p.Lys464Arg	rs757888585	missense variant	-	NC_000023.11:g.10459702T>C	ExAC,gnomAD
MID1	O15344	p.Ala465Pro	RCV000659852	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459700C>G	ClinVar
MID1	O15344	p.Ala465Pro	rs1556004366	missense variant	-	NC_000023.11:g.10459700C>G	-
MID1	O15344	p.Gln468Arg	rs967412425	missense variant	-	NC_000023.11:g.10459690T>C	TOPMed
MID1	O15344	p.Ala469Ser	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>A	TOPMed,gnomAD
MID1	O15344	p.Ala469Thr	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>T	TOPMed,gnomAD
MID1	O15344	p.Ala469Val	rs1311942233	missense variant	-	NC_000023.11:g.10459687G>A	gnomAD
MID1	O15344	p.Gly470Asp	rs761537930	missense variant	-	NC_000023.11:g.10459684C>T	gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser471Gly	rs749981475	missense variant	-	NC_000023.11:g.10459682T>C	ExAC,gnomAD
MID1	O15344	p.Ser471Cys	rs749981475	missense variant	-	NC_000023.11:g.10459682T>A	ExAC,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg472His	rs370465458	missense variant	-	NC_000023.11:g.10459678C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg472Cys	rs1339922842	missense variant	-	NC_000023.11:g.10459679G>A	TOPMed,gnomAD
MID1	O15344	p.Ser473Asn	rs200124370	missense variant	-	NC_000023.11:g.10459675C>T	1000Genomes,ExAC
MID1	O15344	p.Ser483Ter	RCV000180149	frameshift	-	NC_000023.11:g.10459649_10459652dup	ClinVar
MID1	O15344	p.Pro485Ter	RCV000659853	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455072del	ClinVar
MID1	O15344	p.Lys491Thr	rs758089179	missense variant	-	NC_000023.11:g.10455053T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys491Arg	rs758089179	missense variant	-	NC_000023.11:g.10455053T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.His494Tyr	rs373136825	missense variant	-	NC_000023.11:g.10455045G>A	ESP,TOPMed
MID1	O15344	p.Arg495Ter	rs745554420	stop gained	-	NC_000023.11:g.10455042G>A	ExAC,gnomAD
MID1	O15344	p.Arg495Ter	RCV000627230	nonsense	-	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Ter	RCV000659854	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Gln	rs1430919712	missense variant	-	NC_000023.11:g.10455041C>T	TOPMed,gnomAD
MID1	O15344	p.Leu504Phe	rs370948485	missense variant	-	NC_000023.11:g.10455013C>G	ESP,ExAC,gnomAD
MID1	O15344	p.Thr505Arg	rs145973480	missense variant	-	NC_000023.11:g.10455011G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg508His	rs376241755	missense variant	-	NC_000023.11:g.10455002C>T	ESP,ExAC,gnomAD
MID1	O15344	p.Arg508Cys	rs1401866525	missense variant	-	NC_000023.11:g.10455003G>A	TOPMed
MID1	O15344	p.Glu510Gly	rs1225629827	missense variant	-	NC_000023.11:g.10454996T>C	gnomAD
MID1	O15344	p.Ser513Pro	rs794727956	missense variant	-	NC_000023.11:g.10454988A>G	-
MID1	O15344	p.Ser513Pro	RCV000180496	missense variant	-	NC_000023.11:g.10454988A>G	ClinVar
MID1	O15344	p.Thr518Ter	RCV000011559	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454978_10454979CT[1]	ClinVar
MID1	O15344	p.Glu520Ter	RCV000011554	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454967dup	ClinVar
MID1	O15344	p.Arg521Cys	RCV000180497	missense variant	-	NC_000023.11:g.10454964G>A	ClinVar
MID1	O15344	p.Arg521His	rs369909019	missense variant	-	NC_000023.11:g.10454963C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521Cys	rs149482288	missense variant	-	NC_000023.11:g.10454964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521Leu	rs369909019	missense variant	-	NC_000023.11:g.10454963C>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521His	RCV000490086	missense variant	-	NC_000023.11:g.10454963C>T	ClinVar
MID1	O15344	p.Thr523Ala	rs774726726	missense variant	-	NC_000023.11:g.10454958T>C	ExAC
MID1	O15344	p.Gly529Ala	rs1339873549	missense variant	-	NC_000023.11:g.10454939C>G	TOPMed
MID1	O15344	p.Val530Ile	rs763005757	missense variant	-	NC_000023.11:g.10454937C>T	ExAC,gnomAD
MID1	O15344	p.Ala531Val	rs776614617	missense variant	-	NC_000023.11:g.10454933G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn533Thr	rs1279961984	missense variant	-	NC_000023.11:g.10454927T>G	TOPMed
MID1	O15344	p.Val534Met	rs1338268932	missense variant	-	NC_000023.11:g.10454925C>T	gnomAD
MID1	O15344	p.Val534Gly	rs1464286489	missense variant	-	NC_000023.11:g.10454924A>C	gnomAD
MID1	O15344	p.Val534insValPheIleAspSerGlyArgHisLeu	VAR_013760	inframe_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ile536Thr	VAR_013761	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ser538Thr	rs775227924	missense variant	-	NC_000023.11:g.10454912C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser538Ter	RCV000659855	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454916_10454919dup	ClinVar
MID1	O15344	p.Arg540Trp	rs1420374178	missense variant	-	NC_000023.11:g.10454907G>A	gnomAD
MID1	O15344	p.Val546Ile	rs771878559	missense variant	-	NC_000023.11:g.10454889C>T	ExAC,gnomAD
MID1	O15344	p.Ile555Val	rs398123341	missense variant	-	NC_000023.11:g.10449709T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Leu	rs398123341	missense variant	-	NC_000023.11:g.10449709T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Leu	RCV000078677	missense variant	-	NC_000023.11:g.10449709T>G	ClinVar
MID1	O15344	p.Ile555Val	RCV000659856	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449709T>C	ClinVar
MID1	O15344	p.Lys560Arg	rs1057520313	missense variant	-	NC_000023.11:g.10449693T>C	-
MID1	O15344	p.Lys560Arg	RCV000440069	missense variant	-	NC_000023.11:g.10449693T>C	ClinVar
MID1	O15344	p.Ala562Val	rs1489299753	missense variant	-	NC_000023.11:g.10449687G>A	gnomAD
MID1	O15344	p.Pro563Leu	rs750506306	missense variant	-	NC_000023.11:g.10449684G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys564Gln	rs1184266835	missense variant	-	NC_000023.11:g.10449682T>G	gnomAD
MID1	O15344	p.His565Asn	rs1360715026	missense variant	-	NC_000023.11:g.10449679G>T	gnomAD
MID1	O15344	p.Ile568Thr	rs775422871	missense variant	-	NC_000023.11:g.10449669A>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile568Val	rs1387762588	missense variant	-	NC_000023.11:g.10449670T>C	TOPMed
MID1	O15344	p.Trp575Ter	rs1556001968	stop gained	-	NC_000023.11:g.10449647C>T	-
MID1	O15344	p.Trp575Ter	RCV000659857	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449647C>T	ClinVar
MID1	O15344	p.Ala576Val	rs773980150	missense variant	-	NC_000023.11:g.10449645G>A	ExAC,gnomAD
MID1	O15344	p.Arg579Cys	rs770539991	missense variant	-	NC_000023.11:g.10449637G>A	ExAC,gnomAD
MID1	O15344	p.Arg579His	rs761774660	missense variant	-	NC_000023.11:g.10449636C>T	ExAC,gnomAD
MID1	O15344	p.Asn583Ser	rs1457192745	missense variant	-	NC_000023.11:g.10449624T>C	gnomAD
MID1	O15344	p.Val586Leu	rs777097030	missense variant	-	NC_000023.11:g.10449616C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val586Met	rs777097030	missense variant	-	NC_000023.11:g.10449616C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg587Thr	rs748598463	missense variant	-	NC_000023.11:g.10449612C>G	ExAC,gnomAD
MID1	O15344	p.His588Asn	rs760349065	missense variant	-	NC_000023.11:g.10449610G>T	1000Genomes
MID1	O15344	p.Asn589Asp	RCV000626680	missense variant	Hypertelorism	NC_000023.11:g.10449607T>C	ClinVar
MID1	O15344	p.Asn589Asp	rs1556001939	missense variant	-	NC_000023.11:g.10449607T>C	-
MID1	O15344	p.Ile595Leu	rs1329135216	missense variant	-	NC_000023.11:g.10449589T>G	TOPMed
MID1	O15344	p.Pro597Ser	rs988941083	missense variant	-	NC_000023.11:g.10449583G>A	TOPMed
MID1	O15344	p.Ala598Val	rs369262421	missense variant	-	NC_000023.11:g.10449579G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala598Gly	rs369262421	missense variant	-	NC_000023.11:g.10449579G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Pro599Ala	rs1352607382	missense variant	-	NC_000023.11:g.10449577G>C	TOPMed
MID1	O15344	p.His600Tyr	rs1802191	missense variant	-	NC_000023.11:g.10449574G>A	TOPMed,gnomAD
MID1	O15344	p.His600Asp	rs1802191	missense variant	-	NC_000023.11:g.10449574G>C	TOPMed,gnomAD
MID1	O15344	p.His600Ter	RCV000790799	frameshift	-	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.His600Ter	RCV000173680	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.Arg602Gln	rs758507303	missense variant	-	NC_000023.11:g.10449567C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg602Trp	rs780389420	missense variant	-	NC_000023.11:g.10449568G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg603His	rs750682655	missense variant	-	NC_000023.11:g.10449564C>T	ExAC,gnomAD
MID1	O15344	p.Val604Leu	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>A	TOPMed,gnomAD
MID1	O15344	p.Val604Met	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>T	TOPMed,gnomAD
MID1	O15344	p.Asn612Ser	rs757366426	missense variant	-	NC_000023.11:g.10449537T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly613Ser	rs1205719863	missense variant	-	NC_000023.11:g.10449535C>T	TOPMed
MID1	O15344	p.Ser614Phe	rs767500744	missense variant	-	NC_000023.11:g.10449531G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile615Val	rs1473385224	missense variant	-	NC_000023.11:g.10449529T>C	TOPMed
MID1	O15344	p.Ala616Thr	rs1169366982	missense variant	-	NC_000023.11:g.10449526C>T	gnomAD
MID1	O15344	p.Tyr618Phe	rs1421698210	missense variant	-	NC_000023.11:g.10449519T>A	gnomAD
MID1	O15344	p.Ala620Ser	rs766217789	missense variant	-	NC_000023.11:g.10449514C>A	ExAC,gnomAD
MID1	O15344	p.Ala620Val	rs762453585	missense variant	-	NC_000023.11:g.10449513G>A	ExAC,gnomAD
MID1	O15344	p.Ser623Tyr	rs1197360854	missense variant	-	NC_000023.11:g.10449504G>T	gnomAD
MID1	O15344	p.Leu626Pro	RCV000011555	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449495A>G	ClinVar
MID1	O15344	p.Leu626Phe	rs772922068	missense variant	-	NC_000023.11:g.10449496G>A	ExAC,gnomAD
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt,dbSNP
MID1	O15344	p.Leu626Pro	VAR_013762	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	-	NC_000023.11:g.10449495A>G	-
MID1	O15344	p.Tyr627Ter	rs1556001856	stop gained	-	NC_000023.11:g.10449491G>T	-
MID1	O15344	p.Tyr627Ter	RCV000659858	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449491G>T	ClinVar
MID1	O15344	p.Thr628Asn	rs769182755	missense variant	-	NC_000023.11:g.10449489G>T	ExAC,gnomAD
MID1	O15344	p.Asp630Asn	rs150291968	missense variant	-	NC_000023.11:g.10449484C>T	ESP,TOPMed
MID1	O15344	p.Asp630Asn	RCV000780411	missense variant	-	NC_000023.11:g.10449484C>T	ClinVar
MID1	O15344	p.Val631Ile	rs769324197	missense variant	-	NC_000023.11:g.10449481C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val631Phe	rs769324197	missense variant	-	NC_000023.11:g.10449481C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Thr	rs747547954	missense variant	-	NC_000023.11:g.10449478C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Ser	rs747547954	missense variant	-	NC_000023.11:g.10449478C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala634Val	rs944621690	missense variant	-	NC_000023.11:g.10449471G>A	TOPMed
MID1	O15344	p.Gln635Arg	rs758806928	missense variant	-	NC_000023.11:g.10449468T>C	ExAC,gnomAD
MID1	O15344	p.Cys638Trp	rs746014431	missense variant	-	NC_000023.11:g.10449458G>C	ExAC,gnomAD
MID1	O15344	p.Pro639Ser	rs1333314044	missense variant	-	NC_000023.11:g.10449457G>A	gnomAD
MID1	O15344	p.Pro639Leu	rs779265828	missense variant	-	NC_000023.11:g.10449456G>A	ExAC,gnomAD
MID1	O15344	p.Thr640Ter	RCV000754789	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449458del	ClinVar
MID1	O15344	p.Lys646Met	rs757315836	missense variant	-	NC_000023.11:g.10449435T>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys646Arg	rs757315836	missense variant	-	NC_000023.11:g.10449435T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile650Thr	rs1341135609	missense variant	-	NC_000023.11:g.10449423A>G	TOPMed
MID1	O15344	p.Ile656Val	rs371705269	missense variant	-	NC_000023.11:g.10449406T>C	ESP,ExAC,TOPMed
MID1	O15344	p.His659Tyr	rs751510252	missense variant	-	NC_000023.11:g.10449397G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp661Glu	rs767075372	missense variant	-	NC_000023.11:g.10449389G>C	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Thr663Ile	RCV000078679	missense variant	-	NC_000023.11:g.10449384G>A	ClinVar
MID1	O15344	p.Thr663Ile	rs138558359	missense variant	-	NC_000023.11:g.10449384G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gln665His	rs1438198955	missense variant	-	NC_000023.11:g.10449377C>G	gnomAD
MID1	O15344	p.Pro667Leu	RCV000659859	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449372G>A	ClinVar
MID1	O15344	p.Pro667Leu	rs147106995	missense variant	-	NC_000023.11:g.10449372G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr9Ile	rs1247267423	missense variant	-	NC_000023.11:g.10567522G>A	TOPMed,gnomAD
MID1	O15344	p.Ile12Val	RCV000500062	missense variant	-	NC_000023.11:g.10567514T>C	ClinVar
MID1	O15344	p.Ile12Val	rs1555905454	missense variant	-	NC_000023.11:g.10567514T>C	-
MID1	O15344	p.Pro20Leu	rs1199518877	missense variant	-	NC_000023.11:g.10567489G>A	gnomAD
MID1	O15344	p.Ser28Asn	rs1001131284	missense variant	-	NC_000023.11:g.10567465C>T	TOPMed
MID1	O15344	p.Ala34Val	rs1366033152	missense variant	-	NC_000023.11:g.10567447G>A	gnomAD
MID1	O15344	p.Ala34Thr	rs201407794	missense variant	-	NC_000023.11:g.10567448C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.His35Asp	rs1230622754	missense variant	-	NC_000023.11:g.10567445G>C	gnomAD
MID1	O15344	p.His35Gln	rs781375702	missense variant	-	NC_000023.11:g.10567443G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg36His	rs1270080835	missense variant	-	NC_000023.11:g.10567441C>T	gnomAD
MID1	O15344	p.Ile37Asn	rs755238099	missense variant	-	NC_000023.11:g.10567438A>T	ExAC,gnomAD
MID1	O15344	p.His41Arg	rs747064197	missense variant	-	NC_000023.11:g.10567426T>C	ExAC,gnomAD
MID1	O15344	p.His41Pro	rs747064197	missense variant	-	NC_000023.11:g.10567426T>G	ExAC,gnomAD
MID1	O15344	p.Thr44Ile	rs758530606	missense variant	-	NC_000023.11:g.10567417G>A	ExAC
MID1	O15344	p.Thr44Ala	rs779960944	missense variant	-	NC_000023.11:g.10567418T>C	ExAC,gnomAD
MID1	O15344	p.Asn45Ser	rs753662440	missense variant	-	NC_000023.11:g.10567414T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn45Lys	rs996298206	missense variant	-	NC_000023.11:g.10567413G>T	TOPMed
MID1	O15344	p.Glu46Lys	rs1170099584	missense variant	-	NC_000023.11:g.10567412C>T	gnomAD
MID1	O15344	p.Ser50Cys	rs1388869848	missense variant	-	NC_000023.11:g.10567399G>C	TOPMed
MID1	O15344	p.Ile51Val	rs764098546	missense variant	-	NC_000023.11:g.10567397T>C	ExAC,gnomAD
MID1	O15344	p.Ala53Thr	rs147970950	missense variant	-	NC_000023.11:g.10567391C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr58Ile	rs1379754388	missense variant	-	NC_000023.11:g.10567375G>A	TOPMed
MID1	O15344	p.Thr58Pro	rs767256051	missense variant	-	NC_000023.11:g.10567376T>G	ExAC,gnomAD
MID1	O15344	p.Arg60Trp	rs1470523331	missense variant	-	NC_000023.11:g.10567370G>A	TOPMed,gnomAD
MID1	O15344	p.Arg60Gln	rs759189233	missense variant	-	NC_000023.11:g.10567369C>T	1000Genomes
MID1	O15344	p.Thr64Ser	rs759223555	missense variant	-	NC_000023.11:g.10567357G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr64Asn	rs759223555	missense variant	-	NC_000023.11:g.10567357G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg68Gln	rs765748631	missense variant	-	NC_000023.11:g.10567345C>T	ExAC,gnomAD
MID1	O15344	p.Gly72Arg	rs1220297223	missense variant	-	NC_000023.11:g.10567334C>T	gnomAD
MID1	O15344	p.Lys74Arg	rs1266823249	missense variant	-	NC_000023.11:g.10567327T>C	TOPMed
MID1	O15344	p.Val77Ile	RCV000499934	missense variant	-	NC_000023.11:g.10567319C>T	ClinVar
MID1	O15344	p.Val77Ile	rs143416243	missense variant	-	NC_000023.11:g.10567319C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gln80Ter	rs770387204	stop gained	-	NC_000023.11:g.10567310G>A	ExAC,gnomAD
MID1	O15344	p.Gln80His	rs1043173800	missense variant	-	NC_000023.11:g.10567308C>G	gnomAD
MID1	O15344	p.Asp84Asn	rs374851071	missense variant	-	NC_000023.11:g.10567298C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp84Glu	rs1441326944	missense variant	-	NC_000023.11:g.10567296G>T	TOPMed
MID1	O15344	p.Arg85Ser	rs149218019	missense variant	-	NC_000023.11:g.10567293C>A	ESP,TOPMed
MID1	O15344	p.Ala89Thr	rs1407207268	missense variant	-	NC_000023.11:g.10567283C>T	TOPMed
MID1	O15344	p.Gly93Arg	rs747187740	missense variant	-	NC_000023.11:g.10567271C>T	ExAC,gnomAD
MID1	O15344	p.Gly93Glu	rs1366901870	missense variant	-	NC_000023.11:g.10567270C>T	TOPMed
MID1	O15344	p.Asn95Ser	rs780339406	missense variant	-	NC_000023.11:g.10567264T>C	ExAC,gnomAD
MID1	O15344	p.Thr100Asn	rs147727283	missense variant	-	NC_000023.11:g.10567249G>T	ESP
MID1	O15344	p.Arg101Cys	rs746029175	missense variant	-	NC_000023.11:g.10567247G>A	ExAC,gnomAD
MID1	O15344	p.Arg101His	rs202142461	missense variant	-	NC_000023.11:g.10567246C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Gln	rs200381037	missense variant	-	NC_000023.11:g.10567243C>T	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg102Trp	rs756170550	missense variant	-	NC_000023.11:g.10567244G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg104Trp	rs767372071	missense variant	-	NC_000023.11:g.10567238G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg104Gln	rs199516073	missense variant	-	NC_000023.11:g.10567237C>T	TOPMed
MID1	O15344	p.Ala105Thr	rs1352145801	missense variant	-	NC_000023.11:g.10567235C>T	gnomAD
MID1	O15344	p.Ala108Gly	rs751104556	missense variant	-	NC_000023.11:g.10567225G>C	ExAC,gnomAD
MID1	O15344	p.Ala114Thr	RCV000478970	missense variant	-	NC_000023.11:g.10567208C>T	ClinVar
MID1	O15344	p.Ala114Ser	rs749995175	missense variant	-	NC_000023.11:g.10567208C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala114Thr	rs749995175	missense variant	-	NC_000023.11:g.10567208C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	RCV000011556	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10567205C>A	ClinVar
MID1	O15344	p.Glu115Lys	rs104894865	missense variant	-	NC_000023.11:g.10567205C>T	TOPMed,gnomAD
MID1	O15344	p.Glu115Ter	rs104894865	stop gained	-	NC_000023.11:g.10567205C>A	TOPMed,gnomAD
MID1	O15344	p.Glu115Gln	rs104894865	missense variant	-	NC_000023.11:g.10567205C>G	TOPMed,gnomAD
MID1	O15344	p.Leu118Phe	rs1372240598	missense variant	-	NC_000023.11:g.10567196G>A	gnomAD
MID1	O15344	p.Gln124Arg	rs762272910	missense variant	-	NC_000023.11:g.10567177T>C	ExAC
MID1	O15344	p.Pro126Ser	rs1258308744	missense variant	-	NC_000023.11:g.10567172G>A	TOPMed
MID1	O15344	p.Lys132Asn	rs927091019	missense variant	-	NC_000023.11:g.10567152C>A	TOPMed
MID1	O15344	p.Glu144Ala	rs772398285	missense variant	-	NC_000023.11:g.10567117T>G	ExAC
MID1	O15344	p.Glu144Lys	rs371028819	missense variant	-	NC_000023.11:g.10567118C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly158Ser	rs748040551	missense variant	-	NC_000023.11:g.10567076C>T	ExAC,gnomAD
MID1	O15344	p.Ile165Phe	rs1171605375	missense variant	-	NC_000023.11:g.10567055T>A	TOPMed
MID1	O15344	p.Pro166Leu	rs781279006	missense variant	-	NC_000023.11:g.10567051G>A	ExAC,gnomAD
MID1	O15344	p.Ser168Phe	rs1270408199	missense variant	-	NC_000023.11:g.10567045G>A	gnomAD
MID1	O15344	p.Arg171Trp	rs1464375714	missense variant	-	NC_000023.11:g.10567037G>A	TOPMed
MID1	O15344	p.Met174Ile	rs1316707756	missense variant	-	NC_000023.11:g.10567026C>T	gnomAD
MID1	O15344	p.Cys175Tyr	rs1290082018	missense variant	-	NC_000023.11:g.10567024C>T	gnomAD
MID1	O15344	p.Val183Met	rs1376311711	missense variant	-	NC_000023.11:g.10567001C>T	gnomAD
MID1	O15344	p.Asn184Lys	rs368927481	missense variant	-	NC_000023.11:g.10566996A>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Met185Arg	rs992236377	missense variant	-	NC_000023.11:g.10566994A>C	TOPMed
MID1	O15344	p.Arg203Gln	rs754279780	missense variant	-	NC_000023.11:g.10566940C>T	ExAC,gnomAD
MID1	O15344	p.Arg203Trp	rs1452714186	missense variant	-	NC_000023.11:g.10566941G>A	gnomAD
MID1	O15344	p.Arg205Cys	rs965275724	missense variant	-	NC_000023.11:g.10566935G>A	gnomAD
MID1	O15344	p.His207Gln	rs1383446204	missense variant	-	NC_000023.11:g.10566927A>C	gnomAD
MID1	O15344	p.Ala210Thr	rs374812607	missense variant	-	NC_000023.11:g.10566920C>T	ESP,gnomAD
MID1	O15344	p.Ala211Val	rs1250379544	missense variant	-	NC_000023.11:g.10566916G>A	gnomAD
MID1	O15344	p.Leu219Ser	rs746168447	missense variant	-	NC_000023.11:g.10566892A>G	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Gln221Lys	rs774710060	missense variant	-	NC_000023.11:g.10523187G>T	ExAC
MID1	O15344	p.Asn222Lys	rs766764184	missense variant	-	NC_000023.11:g.10523182G>T	ExAC
MID1	O15344	p.Asn222Asp	rs1320017604	missense variant	-	NC_000023.11:g.10523184T>C	TOPMed
MID1	O15344	p.Glu224Asp	rs1305140739	missense variant	-	NC_000023.11:g.10523176C>G	gnomAD
MID1	O15344	p.Ser225Asn	rs763101201	missense variant	-	NC_000023.11:g.10523174C>T	ExAC,gnomAD
MID1	O15344	p.Leu227Phe	rs750948750	missense variant	-	NC_000023.11:g.10523169G>A	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Asn229Ser	rs202082858	missense variant	-	NC_000023.11:g.10523162T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn229Tyr	rs769792761	missense variant	-	NC_000023.11:g.10523163T>A	ExAC,gnomAD
MID1	O15344	p.Ile231Phe	rs1250928460	missense variant	-	NC_000023.11:g.10523157T>A	TOPMed
MID1	O15344	p.Ile231Thr	rs1483794967	missense variant	-	NC_000023.11:g.10523156A>G	TOPMed
MID1	O15344	p.Asn234Lys	rs1405782698	missense variant	-	NC_000023.11:g.10523146G>C	TOPMed,gnomAD
MID1	O15344	p.Glu238Ter	rs387906719	stop gained	-	NC_000023.11:g.10523136C>A	-
MID1	O15344	p.Glu238Ter	RCV000022867	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10523136C>A	ClinVar
MID1	O15344	p.Thr239Ala	rs771836382	missense variant	-	NC_000023.11:g.10523133T>C	ExAC
MID1	O15344	p.Ala242Asp	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>T	TOPMed,gnomAD
MID1	O15344	p.Ala242Ser	rs1361646972	missense variant	-	NC_000023.11:g.10523124C>A	gnomAD
MID1	O15344	p.Ala242Val	rs1180670969	missense variant	-	NC_000023.11:g.10523123G>A	TOPMed,gnomAD
MID1	O15344	p.Val253Ile	rs1480264678	missense variant	-	NC_000023.11:g.10495691C>T	gnomAD
MID1	O15344	p.Arg257Cys	rs755644971	missense variant	-	NC_000023.11:g.10495679G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg257His	rs747668073	missense variant	-	NC_000023.11:g.10495678C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala260Thr	rs781707475	missense variant	-	NC_000023.11:g.10495670C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys261Ter	RCV000178081	frameshift	-	NC_000023.11:g.10495667del	ClinVar
MID1	O15344	p.Glu264Gly	rs1229360357	missense variant	-	NC_000023.11:g.10495657T>C	TOPMed
MID1	O15344	p.Cys266Arg	VAR_013758	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Leu268His	rs1326064853	missense variant	-	NC_000023.11:g.10495645A>T	gnomAD
MID1	O15344	p.Arg277Ter	rs1555895704	stop gained	-	NC_000023.11:g.10495619G>A	-
MID1	O15344	p.Arg277Gln	rs1261715086	missense variant	-	NC_000023.11:g.10495618C>T	TOPMed,gnomAD
MID1	O15344	p.Arg277Ter	RCV000659849	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10495619G>A	ClinVar
MID1	O15344	p.Gln278Arg	rs1222510983	missense variant	-	NC_000023.11:g.10495615T>C	gnomAD
MID1	O15344	p.Ile284Val	rs1171594481	missense variant	-	NC_000023.11:g.10495598T>C	gnomAD
MID1	O15344	p.Met290Ile	rs1203361279	missense variant	-	NC_000023.11:g.10482623C>G	gnomAD
MID1	O15344	p.Arg291Lys	rs774294547	missense variant	-	NC_000023.11:g.10482621C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg293His	rs899677777	missense variant	-	NC_000023.11:g.10482615C>T	TOPMed
MID1	O15344	p.Lys294Arg	rs1285865197	missense variant	-	NC_000023.11:g.10482612T>C	gnomAD
MID1	O15344	p.Leu295Pro	RCV000011558	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482609A>G	ClinVar
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	-	NC_000023.11:g.10482609A>G	-
MID1	O15344	p.Leu295Pro	rs104894866	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt,dbSNP
MID1	O15344	p.Leu295Pro	VAR_025495	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10482609A>G	UniProt
MID1	O15344	p.Ile299Thr	rs1206390719	missense variant	-	NC_000023.11:g.10482597A>G	gnomAD
MID1	O15344	p.Ile306Val	rs1284334406	missense variant	-	NC_000023.11:g.10482577T>C	gnomAD
MID1	O15344	p.Arg308Gln	rs762802896	missense variant	-	NC_000023.11:g.10482570C>T	ExAC,gnomAD
MID1	O15344	p.Arg308Ter	RCV000659850	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10482571del	ClinVar
MID1	O15344	p.Arg308Trp	rs149787593	missense variant	-	NC_000023.11:g.10482571G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala316Glu	rs398123344	missense variant	-	NC_000023.11:g.10482546G>T	TOPMed
MID1	O15344	p.Ala316Val	rs398123344	missense variant	-	NC_000023.11:g.10482546G>A	TOPMed
MID1	O15344	p.Ala316Glu	RCV000078684	missense variant	-	NC_000023.11:g.10482546G>T	ClinVar
MID1	O15344	p.His318Gln	rs1399226678	missense variant	-	NC_000023.11:g.10482539G>C	gnomAD
MID1	O15344	p.His325Pro	rs1163978469	missense variant	-	NC_000023.11:g.10482519T>G	gnomAD
MID1	O15344	p.Arg327Cys	rs1483645727	missense variant	-	NC_000023.11:g.10482514G>A	TOPMed
MID1	O15344	p.Asn334Ser	rs1205263035	missense variant	-	NC_000023.11:g.10482492T>C	TOPMed
MID1	O15344	p.Glu337Lys	rs747456797	missense variant	-	NC_000023.11:g.10482484C>T	ExAC
MID1	O15344	p.Ser340Pro	rs1205933022	missense variant	-	NC_000023.11:g.10474746A>G	gnomAD
MID1	O15344	p.Ser346Pro	rs1160642369	missense variant	-	NC_000023.11:g.10474728A>G	TOPMed,gnomAD
MID1	O15344	p.Gln347His	rs1239445670	missense variant	-	NC_000023.11:g.10474723C>A	gnomAD
MID1	O15344	p.Ile353Thr	rs777949146	missense variant	-	NC_000023.11:g.10474706A>G	ExAC,gnomAD
MID1	O15344	p.Asn354Lys	rs756366511	missense variant	-	NC_000023.11:g.10474702G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn356Ser	rs748399428	missense variant	-	NC_000023.11:g.10474697T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr361Ser	rs750257635	missense variant	-	NC_000023.11:g.10474682G>C	ExAC,gnomAD
MID1	O15344	p.Leu364Ile	rs765282014	missense variant	-	NC_000023.11:g.10474674A>T	ExAC,gnomAD
MID1	O15344	p.Arg368Gln	rs753740212	missense variant	-	NC_000023.11:g.10474661C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Tyr378His	rs1373430724	missense variant	-	NC_000023.11:g.10474632A>G	gnomAD
MID1	O15344	p.Pro385Ala	rs200213912	missense variant	-	NC_000023.11:g.10469829G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr386Ile	rs1265184704	missense variant	-	NC_000023.11:g.10469825G>A	gnomAD
MID1	O15344	p.Arg388Thr	rs771515674	missense variant	-	NC_000023.11:g.10469819C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Glu389Lys	rs1486145790	missense variant	-	NC_000023.11:g.10469817C>T	gnomAD
MID1	O15344	p.Leu391_Cys392delinsArg	VAR_025496	deletion_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Cys392Tyr	rs1261435013	missense variant	-	NC_000023.11:g.10469807C>T	gnomAD
MID1	O15344	p.Ala394Pro	rs948448691	missense variant	-	NC_000023.11:g.10469802C>G	TOPMed
MID1	O15344	p.Ser395Ter	rs1210633665	stop gained	-	NC_000023.11:g.10469798G>T	gnomAD
MID1	O15344	p.Thr398Ala	rs1366882934	missense variant	-	NC_000023.11:g.10469790T>C	gnomAD
MID1	O15344	p.Thr400Ala	rs1423462435	missense variant	-	NC_000023.11:g.10469784T>C	gnomAD
MID1	O15344	p.Val401Ala	rs1169601679	missense variant	-	NC_000023.11:g.10469780A>G	gnomAD
MID1	O15344	p.Asp406Gly	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>C	TOPMed,gnomAD
MID1	O15344	p.Asp406Val	rs1224524115	missense variant	-	NC_000023.11:g.10469765T>A	TOPMed,gnomAD
MID1	O15344	p.Asp407His	rs768610642	missense variant	-	NC_000023.11:g.10469763C>G	ExAC,gnomAD
MID1	O15344	p.Ser410Thr	rs1280587582	missense variant	-	NC_000023.11:g.10469753C>G	TOPMed
MID1	O15344	p.Val411Met	rs778696153	missense variant	-	NC_000023.11:g.10469751C>T	ExAC,gnomAD
MID1	O15344	p.Thr419Ile	rs1466434678	missense variant	-	NC_000023.11:g.10469726G>A	TOPMed
MID1	O15344	p.Gly423Arg	rs1002864796	missense variant	-	NC_000023.11:g.10469715C>T	TOPMed
MID1	O15344	p.Ala425Thr	rs1337827121	missense variant	-	NC_000023.11:g.10469709C>T	gnomAD
MID1	O15344	p.Val427Ile	rs755985917	missense variant	-	NC_000023.11:g.10469703C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val428Ile	rs1280989248	missense variant	-	NC_000023.11:g.10469700C>T	TOPMed,gnomAD
MID1	O15344	p.Val428Ile	RCV000729030	missense variant	-	NC_000023.11:g.10469700C>T	ClinVar
MID1	O15344	p.Ser429Asn	rs768937441	missense variant	-	NC_000023.11:g.10459807C>T	ExAC,gnomAD
MID1	O15344	p.Ser433Leu	rs780880323	missense variant	-	NC_000023.11:g.10459795G>A	1000Genomes,ExAC,TOPMed,gnomAD
MID1	O15344	p.AlaAsp434AlaAspTerUnk	rs786200982	stop gained	-	NC_000023.11:g.10459788_10459791dup	-
MID1	O15344	p.Ser436Ter	RCV000180150	nonsense	-	NC_000023.11:g.10459788_10459791dup	ClinVar
MID1	O15344	p.Met438del	VAR_013759	inframe_deletion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.His447Tyr	rs1320558372	missense variant	-	NC_000023.11:g.10459754G>A	gnomAD
MID1	O15344	p.His447Gln	rs772124520	missense variant	-	NC_000023.11:g.10459752G>C	ExAC,gnomAD
MID1	O15344	p.Tyr448His	RCV000719817	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.10459751A>G	ClinVar
MID1	O15344	p.Thr449Met	rs201454444	missense variant	-	NC_000023.11:g.10459747G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly452Ser	RCV000657884	missense variant	-	NC_000023.11:g.10459739C>T	ClinVar
MID1	O15344	p.Gly452Ser	rs1556004404	missense variant	-	NC_000023.11:g.10459739C>T	-
MID1	O15344	p.Gln454Arg	RCV000659851	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459732T>C	ClinVar
MID1	O15344	p.Gly456Ser	rs746602154	missense variant	-	NC_000023.11:g.10459727C>T	ExAC,gnomAD
MID1	O15344	p.Thr457Ile	rs1335896786	missense variant	-	NC_000023.11:g.10459723G>A	TOPMed
MID1	O15344	p.Met462Ile	rs1291943707	missense variant	-	NC_000023.11:g.10459707C>T	gnomAD
MID1	O15344	p.Met462Thr	rs1487662491	missense variant	-	NC_000023.11:g.10459708A>G	gnomAD
MID1	O15344	p.Lys464Arg	rs757888585	missense variant	-	NC_000023.11:g.10459702T>C	ExAC,gnomAD
MID1	O15344	p.Ala465Pro	rs1556004366	missense variant	-	NC_000023.11:g.10459700C>G	-
MID1	O15344	p.Ala465Pro	RCV000659852	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10459700C>G	ClinVar
MID1	O15344	p.Gln468Arg	rs967412425	missense variant	-	NC_000023.11:g.10459690T>C	TOPMed
MID1	O15344	p.Ala469Val	rs1311942233	missense variant	-	NC_000023.11:g.10459687G>A	gnomAD
MID1	O15344	p.Ala469Thr	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>T	TOPMed,gnomAD
MID1	O15344	p.Ala469Ser	rs1254680142	missense variant	-	NC_000023.11:g.10459688C>A	TOPMed,gnomAD
MID1	O15344	p.Gly470Asp	rs761537930	missense variant	-	NC_000023.11:g.10459684C>T	gnomAD
MID1	O15344	p.Ser471Gly	rs749981475	missense variant	-	NC_000023.11:g.10459682T>C	ExAC,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser471Arg	rs765706233	missense variant	-	NC_000023.11:g.10459680G>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser471Cys	rs749981475	missense variant	-	NC_000023.11:g.10459682T>A	ExAC,gnomAD
MID1	O15344	p.Arg472Cys	rs1339922842	missense variant	-	NC_000023.11:g.10459679G>A	TOPMed,gnomAD
MID1	O15344	p.Arg472His	rs370465458	missense variant	-	NC_000023.11:g.10459678C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser473Asn	rs200124370	missense variant	-	NC_000023.11:g.10459675C>T	1000Genomes,ExAC
MID1	O15344	p.Ser483Ter	RCV000180149	frameshift	-	NC_000023.11:g.10459649_10459652dup	ClinVar
MID1	O15344	p.Pro485Ter	RCV000659853	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455072del	ClinVar
MID1	O15344	p.Lys491Thr	rs758089179	missense variant	-	NC_000023.11:g.10455053T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys491Arg	rs758089179	missense variant	-	NC_000023.11:g.10455053T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.His494Tyr	rs373136825	missense variant	-	NC_000023.11:g.10455045G>A	ESP,TOPMed
MID1	O15344	p.Arg495Ter	RCV000627230	nonsense	-	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Ter	RCV000659854	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10455042G>A	ClinVar
MID1	O15344	p.Arg495Ter	rs745554420	stop gained	-	NC_000023.11:g.10455042G>A	ExAC,gnomAD
MID1	O15344	p.Arg495Gln	rs1430919712	missense variant	-	NC_000023.11:g.10455041C>T	TOPMed,gnomAD
MID1	O15344	p.Leu504Phe	rs370948485	missense variant	-	NC_000023.11:g.10455013C>G	ESP,ExAC,gnomAD
MID1	O15344	p.Thr505Arg	rs145973480	missense variant	-	NC_000023.11:g.10455011G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg508His	rs376241755	missense variant	-	NC_000023.11:g.10455002C>T	ESP,ExAC,gnomAD
MID1	O15344	p.Arg508Cys	rs1401866525	missense variant	-	NC_000023.11:g.10455003G>A	TOPMed
MID1	O15344	p.Glu510Gly	rs1225629827	missense variant	-	NC_000023.11:g.10454996T>C	gnomAD
MID1	O15344	p.Ser513Pro	rs794727956	missense variant	-	NC_000023.11:g.10454988A>G	-
MID1	O15344	p.Ser513Pro	RCV000180496	missense variant	-	NC_000023.11:g.10454988A>G	ClinVar
MID1	O15344	p.Thr518Ter	RCV000011559	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454978_10454979CT[1]	ClinVar
MID1	O15344	p.Glu520Ter	RCV000011554	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454967dup	ClinVar
MID1	O15344	p.Arg521Cys	RCV000180497	missense variant	-	NC_000023.11:g.10454964G>A	ClinVar
MID1	O15344	p.Arg521Cys	rs149482288	missense variant	-	NC_000023.11:g.10454964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521His	rs369909019	missense variant	-	NC_000023.11:g.10454963C>T	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg521His	RCV000490086	missense variant	-	NC_000023.11:g.10454963C>T	ClinVar
MID1	O15344	p.Arg521Leu	rs369909019	missense variant	-	NC_000023.11:g.10454963C>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Thr523Ala	rs774726726	missense variant	-	NC_000023.11:g.10454958T>C	ExAC
MID1	O15344	p.Gly529Ala	rs1339873549	missense variant	-	NC_000023.11:g.10454939C>G	TOPMed
MID1	O15344	p.Val530Ile	rs763005757	missense variant	-	NC_000023.11:g.10454937C>T	ExAC,gnomAD
MID1	O15344	p.Ala531Val	rs776614617	missense variant	-	NC_000023.11:g.10454933G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asn533Thr	rs1279961984	missense variant	-	NC_000023.11:g.10454927T>G	TOPMed
MID1	O15344	p.Val534Gly	rs1464286489	missense variant	-	NC_000023.11:g.10454924A>C	gnomAD
MID1	O15344	p.Val534Met	rs1338268932	missense variant	-	NC_000023.11:g.10454925C>T	gnomAD
MID1	O15344	p.Val534insValPheIleAspSerGlyArgHisLeu	VAR_013760	inframe_insertion	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ile536Thr	VAR_013761	Missense	Opitz GBBB syndrome 1 (GBBB1) [MIM:300000]	-	UniProt
MID1	O15344	p.Ser538Thr	rs775227924	missense variant	-	NC_000023.11:g.10454912C>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ser538Ter	RCV000659855	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10454916_10454919dup	ClinVar
MID1	O15344	p.Arg540Trp	rs1420374178	missense variant	-	NC_000023.11:g.10454907G>A	gnomAD
MID1	O15344	p.Val546Ile	rs771878559	missense variant	-	NC_000023.11:g.10454889C>T	ExAC,gnomAD
MID1	O15344	p.Ile555Val	rs398123341	missense variant	-	NC_000023.11:g.10449709T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Leu	rs398123341	missense variant	-	NC_000023.11:g.10449709T>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile555Val	RCV000659856	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449709T>C	ClinVar
MID1	O15344	p.Ile555Leu	RCV000078677	missense variant	-	NC_000023.11:g.10449709T>G	ClinVar
MID1	O15344	p.Lys560Arg	RCV000440069	missense variant	-	NC_000023.11:g.10449693T>C	ClinVar
MID1	O15344	p.Lys560Arg	rs1057520313	missense variant	-	NC_000023.11:g.10449693T>C	-
MID1	O15344	p.Ala562Val	rs1489299753	missense variant	-	NC_000023.11:g.10449687G>A	gnomAD
MID1	O15344	p.Pro563Leu	rs750506306	missense variant	-	NC_000023.11:g.10449684G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys564Gln	rs1184266835	missense variant	-	NC_000023.11:g.10449682T>G	gnomAD
MID1	O15344	p.His565Asn	rs1360715026	missense variant	-	NC_000023.11:g.10449679G>T	gnomAD
MID1	O15344	p.Ile568Thr	rs775422871	missense variant	-	NC_000023.11:g.10449669A>G	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile568Val	rs1387762588	missense variant	-	NC_000023.11:g.10449670T>C	TOPMed
MID1	O15344	p.Trp575Ter	rs1556001968	stop gained	-	NC_000023.11:g.10449647C>T	-
MID1	O15344	p.Trp575Ter	RCV000659857	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449647C>T	ClinVar
MID1	O15344	p.Ala576Val	rs773980150	missense variant	-	NC_000023.11:g.10449645G>A	ExAC,gnomAD
MID1	O15344	p.Arg579His	rs761774660	missense variant	-	NC_000023.11:g.10449636C>T	ExAC,gnomAD
MID1	O15344	p.Arg579Cys	rs770539991	missense variant	-	NC_000023.11:g.10449637G>A	ExAC,gnomAD
MID1	O15344	p.Asn583Ser	rs1457192745	missense variant	-	NC_000023.11:g.10449624T>C	gnomAD
MID1	O15344	p.Val586Met	rs777097030	missense variant	-	NC_000023.11:g.10449616C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val586Leu	rs777097030	missense variant	-	NC_000023.11:g.10449616C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg587Thr	rs748598463	missense variant	-	NC_000023.11:g.10449612C>G	ExAC,gnomAD
MID1	O15344	p.His588Asn	rs760349065	missense variant	-	NC_000023.11:g.10449610G>T	1000Genomes
MID1	O15344	p.Asn589Asp	RCV000626680	missense variant	Hypertelorism	NC_000023.11:g.10449607T>C	ClinVar
MID1	O15344	p.Asn589Asp	rs1556001939	missense variant	-	NC_000023.11:g.10449607T>C	-
MID1	O15344	p.Ile595Leu	rs1329135216	missense variant	-	NC_000023.11:g.10449589T>G	TOPMed
MID1	O15344	p.Pro597Ser	rs988941083	missense variant	-	NC_000023.11:g.10449583G>A	TOPMed
MID1	O15344	p.Ala598Val	rs369262421	missense variant	-	NC_000023.11:g.10449579G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala598Gly	rs369262421	missense variant	-	NC_000023.11:g.10449579G>C	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Pro599Ala	rs1352607382	missense variant	-	NC_000023.11:g.10449577G>C	TOPMed
MID1	O15344	p.His600Asp	rs1802191	missense variant	-	NC_000023.11:g.10449574G>C	TOPMed,gnomAD
MID1	O15344	p.His600Tyr	rs1802191	missense variant	-	NC_000023.11:g.10449574G>A	TOPMed,gnomAD
MID1	O15344	p.His600Ter	RCV000790799	frameshift	-	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.His600Ter	RCV000173680	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449579dup	ClinVar
MID1	O15344	p.Arg602Gln	rs758507303	missense variant	-	NC_000023.11:g.10449567C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg602Trp	rs780389420	missense variant	-	NC_000023.11:g.10449568G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Arg603His	rs750682655	missense variant	-	NC_000023.11:g.10449564C>T	ExAC,gnomAD
MID1	O15344	p.Val604Leu	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>A	TOPMed,gnomAD
MID1	O15344	p.Val604Met	rs1033237113	missense variant	-	NC_000023.11:g.10449562C>T	TOPMed,gnomAD
MID1	O15344	p.Asn612Ser	rs757366426	missense variant	-	NC_000023.11:g.10449537T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Gly613Ser	rs1205719863	missense variant	-	NC_000023.11:g.10449535C>T	TOPMed
MID1	O15344	p.Ser614Phe	rs767500744	missense variant	-	NC_000023.11:g.10449531G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile615Val	rs1473385224	missense variant	-	NC_000023.11:g.10449529T>C	TOPMed
MID1	O15344	p.Ala616Thr	rs1169366982	missense variant	-	NC_000023.11:g.10449526C>T	gnomAD
MID1	O15344	p.Tyr618Phe	rs1421698210	missense variant	-	NC_000023.11:g.10449519T>A	gnomAD
MID1	O15344	p.Ala620Ser	rs766217789	missense variant	-	NC_000023.11:g.10449514C>A	ExAC,gnomAD
MID1	O15344	p.Ala620Val	rs762453585	missense variant	-	NC_000023.11:g.10449513G>A	ExAC,gnomAD
MID1	O15344	p.Ser623Tyr	rs1197360854	missense variant	-	NC_000023.11:g.10449504G>T	gnomAD
MID1	O15344	p.Leu626Pro	RCV000011555	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449495A>G	ClinVar
MID1	O15344	p.Leu626Phe	rs772922068	missense variant	-	NC_000023.11:g.10449496G>A	ExAC,gnomAD
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt,dbSNP
MID1	O15344	p.Leu626Pro	VAR_013762	missense variant	Opitz GBBB syndrome 1 (GBBB1)	NC_000023.11:g.10449495A>G	UniProt
MID1	O15344	p.Leu626Pro	rs28934611	missense variant	-	NC_000023.11:g.10449495A>G	-
MID1	O15344	p.Tyr627Ter	RCV000659858	nonsense	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449491G>T	ClinVar
MID1	O15344	p.Tyr627Ter	rs1556001856	stop gained	-	NC_000023.11:g.10449491G>T	-
MID1	O15344	p.Thr628Asn	rs769182755	missense variant	-	NC_000023.11:g.10449489G>T	ExAC,gnomAD
MID1	O15344	p.Asp630Asn	rs150291968	missense variant	-	NC_000023.11:g.10449484C>T	ESP,TOPMed
MID1	O15344	p.Asp630Asn	RCV000780411	missense variant	-	NC_000023.11:g.10449484C>T	ClinVar
MID1	O15344	p.Val631Phe	rs769324197	missense variant	-	NC_000023.11:g.10449481C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Val631Ile	rs769324197	missense variant	-	NC_000023.11:g.10449481C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Thr	rs747547954	missense variant	-	NC_000023.11:g.10449478C>T	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala632Ser	rs747547954	missense variant	-	NC_000023.11:g.10449478C>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ala634Val	rs944621690	missense variant	-	NC_000023.11:g.10449471G>A	TOPMed
MID1	O15344	p.Gln635Arg	rs758806928	missense variant	-	NC_000023.11:g.10449468T>C	ExAC,gnomAD
MID1	O15344	p.Cys638Trp	rs746014431	missense variant	-	NC_000023.11:g.10449458G>C	ExAC,gnomAD
MID1	O15344	p.Pro639Ser	rs1333314044	missense variant	-	NC_000023.11:g.10449457G>A	gnomAD
MID1	O15344	p.Pro639Leu	rs779265828	missense variant	-	NC_000023.11:g.10449456G>A	ExAC,gnomAD
MID1	O15344	p.Thr640Ter	RCV000754789	frameshift	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449458del	ClinVar
MID1	O15344	p.Lys646Arg	rs757315836	missense variant	-	NC_000023.11:g.10449435T>C	ExAC,TOPMed,gnomAD
MID1	O15344	p.Lys646Met	rs757315836	missense variant	-	NC_000023.11:g.10449435T>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Ile650Thr	rs1341135609	missense variant	-	NC_000023.11:g.10449423A>G	TOPMed
MID1	O15344	p.Ile656Val	rs371705269	missense variant	-	NC_000023.11:g.10449406T>C	ESP,ExAC,TOPMed
MID1	O15344	p.His659Tyr	rs751510252	missense variant	-	NC_000023.11:g.10449397G>A	ExAC,TOPMed,gnomAD
MID1	O15344	p.Asp661Glu	rs767075372	missense variant	-	NC_000023.11:g.10449389G>C	1000Genomes,ExAC,gnomAD
MID1	O15344	p.Thr663Ile	RCV000078679	missense variant	-	NC_000023.11:g.10449384G>A	ClinVar
MID1	O15344	p.Thr663Ile	rs138558359	missense variant	-	NC_000023.11:g.10449384G>A	ESP,ExAC,TOPMed,gnomAD
MID1	O15344	p.Gln665His	rs1438198955	missense variant	-	NC_000023.11:g.10449377C>G	gnomAD
MID1	O15344	p.Pro667Leu	RCV000659859	missense variant	Opitz-Frias syndrome (GBBB1)	NC_000023.11:g.10449372G>A	ClinVar
MID1	O15344	p.Pro667Leu	rs147106995	missense variant	-	NC_000023.11:g.10449372G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg4Lys	rs1413088762	missense variant	-	NC_000016.10:g.52546713C>T	TOPMed
TOX3	O15405	p.Arg4Ser	rs1190470930	missense variant	-	NC_000016.10:g.52546712C>G	TOPMed,gnomAD
TOX3	O15405	p.Phe5Leu	rs1428419441	missense variant	-	NC_000016.10:g.52546711A>G	gnomAD
TOX3	O15405	p.Tyr6His	rs1433454882	missense variant	-	NC_000016.10:g.52546708A>G	TOPMed
TOX3	O15405	p.Pro7His	rs1196509466	missense variant	-	NC_000016.10:g.52546704G>T	gnomAD
TOX3	O15405	p.Ala8Glu	rs773767575	missense variant	-	NC_000016.10:g.52546701G>T	ExAC,gnomAD
TOX3	O15405	p.Ala8Pro	rs761115401	missense variant	-	NC_000016.10:g.52546702C>G	ExAC,gnomAD
TOX3	O15405	p.Ala8Thr	rs761115401	missense variant	-	NC_000016.10:g.52546702C>T	ExAC,gnomAD
TOX3	O15405	p.Ala9Val	rs1339858979	missense variant	-	NC_000016.10:g.52546698G>A	TOPMed
TOX3	O15405	p.Gly11Trp	rs772419698	missense variant	-	NC_000016.10:g.52546693C>A	ExAC,gnomAD
TOX3	O15405	p.Gly11Arg	rs772419698	missense variant	-	NC_000016.10:g.52546693C>T	ExAC,gnomAD
TOX3	O15405	p.Pro13His	rs1341241820	missense variant	-	NC_000016.10:g.52546686G>T	gnomAD
TOX3	O15405	p.Pro13Ala	rs1226831854	missense variant	-	NC_000016.10:g.52546687G>C	gnomAD
TOX3	O15405	p.Ala14Val	rs1401784536	missense variant	-	NC_000016.10:g.52546683G>A	gnomAD
TOX3	O15405	p.Ala14Ser	rs748500023	missense variant	-	NC_000016.10:g.52546684C>A	ExAC,gnomAD
TOX3	O15405	p.Ser15Gly	rs1322731916	missense variant	-	NC_000016.10:g.52546681T>C	gnomAD
TOX3	O15405	p.Ser15Ile	rs980576855	missense variant	-	NC_000016.10:g.52546680C>A	TOPMed
TOX3	O15405	p.Ala19Val	rs1464614374	missense variant	-	NC_000016.10:g.52546668G>A	gnomAD
TOX3	O15405	p.Cys21Phe	rs1022168357	missense variant	-	NC_000016.10:g.52546662C>A	TOPMed
TOX3	O15405	p.Gly23Val	rs1277600052	missense variant	-	NC_000016.10:g.52546656C>A	TOPMed
TOX3	O15405	p.Tyr25Cys	rs1477205598	missense variant	-	NC_000016.10:g.52546650T>C	TOPMed
TOX3	O15405	p.Tyr25Asn	rs1260960284	missense variant	-	NC_000016.10:g.52546651A>T	TOPMed
TOX3	O15405	p.Gly26Ser	rs377611579	missense variant	-	NC_000016.10:g.52546648C>T	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gly26Arg	rs377611579	missense variant	-	NC_000016.10:g.52546648C>G	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Tyr27Cys	rs780213350	missense variant	-	NC_000016.10:g.52546644T>C	ExAC,gnomAD
TOX3	O15405	p.Lys29Asn	rs1453508527	missense variant	-	NC_000016.10:g.52546637C>A	gnomAD
TOX3	O15405	p.Asn33Lys	COSM1293598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52468563A>T	NCI-TCGA Cosmic
TOX3	O15405	p.Asn33Ser	rs746972464	missense variant	-	NC_000016.10:g.52468564T>C	ExAC,gnomAD
TOX3	O15405	p.Asn34Asp	rs771251976	missense variant	-	NC_000016.10:g.52468562T>C	ExAC,gnomAD
TOX3	O15405	p.Met37Ile	rs758274251	missense variant	-	NC_000016.10:g.52468551C>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Met39Ile	rs1167208032	missense variant	-	NC_000016.10:g.52468545C>T	TOPMed,gnomAD
TOX3	O15405	p.Ala40Pro	rs752343447	missense variant	-	NC_000016.10:g.52468544C>G	ExAC,gnomAD
TOX3	O15405	p.Ala42Glu	rs568437917	missense variant	-	NC_000016.10:g.52468537G>T	1000Genomes,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala42Ser	rs1423024805	missense variant	-	NC_000016.10:g.52468538C>A	gnomAD
TOX3	O15405	p.Ala42Val	rs568437917	missense variant	-	NC_000016.10:g.52468537G>A	1000Genomes,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Asn44Tyr	rs753295942	missense variant	-	NC_000016.10:g.52468532T>A	ExAC,gnomAD
TOX3	O15405	p.Ala45Glu	rs369822258	missense variant	-	NC_000016.10:g.52468528G>T	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala45Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52468529C>A	NCI-TCGA
TOX3	O15405	p.Ala45Val	rs369822258	missense variant	-	NC_000016.10:g.52468528G>A	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala48Thr	rs775836835	missense variant	-	NC_000016.10:g.52468520C>T	ExAC,gnomAD
TOX3	O15405	p.Ala48Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52468520C>A	NCI-TCGA
TOX3	O15405	p.Ala48Pro	rs775836835	missense variant	-	NC_000016.10:g.52468520C>G	ExAC,gnomAD
TOX3	O15405	p.Ala49Ser	rs1256877578	missense variant	-	NC_000016.10:g.52468517C>A	gnomAD
TOX3	O15405	p.Ser50Gly	rs1219766630	missense variant	-	NC_000016.10:g.52468514T>C	gnomAD
TOX3	O15405	p.Thr53Ile	rs371907581	missense variant	-	NC_000016.10:g.52464184G>A	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser58Arg	rs1228695826	missense variant	-	NC_000016.10:g.52464168G>T	TOPMed
TOX3	O15405	p.Asp61Val	rs760851348	missense variant	-	NC_000016.10:g.52464160T>A	ExAC,gnomAD
TOX3	O15405	p.Glu63Lys	rs771946027	missense variant	-	NC_000016.10:g.52464155C>T	ExAC,gnomAD
TOX3	O15405	p.Phe64Leu	rs989915228	missense variant	-	NC_000016.10:g.52464152A>G	TOPMed,gnomAD
TOX3	O15405	p.Glu65Lys	COSM1230095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464149C>T	NCI-TCGA Cosmic
TOX3	O15405	p.Pro67Ser	rs748115079	missense variant	-	NC_000016.10:g.52464143G>A	ExAC,gnomAD
TOX3	O15405	p.Thr70Met	rs768449574	missense variant	-	NC_000016.10:g.52464133G>A	ExAC,gnomAD
TOX3	O15405	p.Pro72Ser	COSM4853597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464128G>A	NCI-TCGA Cosmic
TOX3	O15405	p.Pro72Arg	rs779821152	missense variant	-	NC_000016.10:g.52464127G>C	ExAC,gnomAD
TOX3	O15405	p.Asp76Tyr	rs755560023	missense variant	-	NC_000016.10:g.52464116C>A	ExAC,gnomAD
TOX3	O15405	p.Pro77Ser	rs1274810425	missense variant	-	NC_000016.10:g.52464113G>A	TOPMed
TOX3	O15405	p.Met81Val	rs1258115667	missense variant	-	NC_000016.10:g.52464101T>C	gnomAD
TOX3	O15405	p.Pro82Thr	rs753269920	missense variant	-	NC_000016.10:g.52464098G>T	ExAC,gnomAD
TOX3	O15405	p.Pro82Leu	rs986221697	missense variant	-	NC_000016.10:g.52464097G>A	TOPMed,gnomAD
TOX3	O15405	p.Asp83Glu	rs765684548	missense variant	-	NC_000016.10:g.52464093A>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Val84Ile	rs755462093	missense variant	-	NC_000016.10:g.52464092C>T	ExAC,gnomAD
TOX3	O15405	p.Leu85Pro	rs1338711909	missense variant	-	NC_000016.10:g.52464088A>G	gnomAD
TOX3	O15405	p.Pro87Ala	rs375653576	missense variant	-	NC_000016.10:g.52464083G>C	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Phe88Leu	rs773301649	missense variant	-	NC_000016.10:g.52464080A>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Leu91Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52464070A>C	NCI-TCGA
TOX3	O15405	p.Ser92Arg	rs761677560	missense variant	-	NC_000016.10:g.52464066G>T	ExAC,gnomAD
TOX3	O15405	p.Pro94Leu	COSM3510220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464061G>A	NCI-TCGA Cosmic
TOX3	O15405	p.Pro94Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52464062G>C	NCI-TCGA
TOX3	O15405	p.Pro94Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52464062G>A	NCI-TCGA
TOX3	O15405	p.Pro94Gln	rs1421210462	missense variant	-	NC_000016.10:g.52464061G>T	gnomAD
TOX3	O15405	p.Gln98Arg	rs768433075	missense variant	-	NC_000016.10:g.52464049T>C	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gly99Arg	COSM1519439	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464047C>T	NCI-TCGA Cosmic
TOX3	O15405	p.Ser100Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52464044T>C	NCI-TCGA
TOX3	O15405	p.Glu101Gly	rs775173684	missense variant	-	NC_000016.10:g.52464040T>C	ExAC,gnomAD
TOX3	O15405	p.Thr103Ala	rs1192155497	missense variant	-	NC_000016.10:g.52464035T>C	TOPMed,gnomAD
TOX3	O15405	p.Thr103Ile	rs371588576	missense variant	-	NC_000016.10:g.52464034G>A	ESP,TOPMed,gnomAD
TOX3	O15405	p.Pro104Ala	rs1219070355	missense variant	-	NC_000016.10:g.52464032G>C	gnomAD
TOX3	O15405	p.Phe106Ser	COSM4914314	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52464025A>G	NCI-TCGA Cosmic
TOX3	O15405	p.Pro107Ser	rs1354589421	missense variant	-	NC_000016.10:g.52464023G>A	gnomAD
TOX3	O15405	p.Pro108LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52464019G>-	NCI-TCGA
TOX3	O15405	p.Ser110Arg	rs780796132	missense variant	-	NC_000016.10:g.52464012G>C	ExAC,gnomAD
TOX3	O15405	p.Ser110Gly	rs745514528	missense variant	-	NC_000016.10:g.52464014T>C	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Asp112Gly	rs970877175	missense variant	-	NC_000016.10:g.52464007T>C	gnomAD
TOX3	O15405	p.Thr117Ile	rs756886057	missense variant	-	NC_000016.10:g.52463992G>A	ExAC,gnomAD
TOX3	O15405	p.Ser119Ala	rs1298640639	missense variant	-	NC_000016.10:g.52463987A>C	gnomAD
TOX3	O15405	p.Ser119Leu	rs1383535236	missense variant	-	NC_000016.10:g.52463986G>A	gnomAD
TOX3	O15405	p.Leu122Pro	rs1388185865	missense variant	-	NC_000016.10:g.52463977A>G	gnomAD
TOX3	O15405	p.Leu122Ile	COSM971399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52463978G>T	NCI-TCGA Cosmic
TOX3	O15405	p.Leu122Val	rs1380292847	missense variant	-	NC_000016.10:g.52463978G>C	TOPMed
TOX3	O15405	p.Val123Met	rs578190059	missense variant	-	NC_000016.10:g.52463975C>T	1000Genomes,ExAC,gnomAD
TOX3	O15405	p.Val123TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52463976G>-	NCI-TCGA
TOX3	O15405	p.Gly127Ala	rs1419407796	missense variant	-	NC_000016.10:g.52463962C>G	gnomAD
TOX3	O15405	p.Val128Met	rs16951186	missense variant	-	NC_000016.10:g.52463960C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Val128Met	rs16951186	missense variant	-	NC_000016.10:g.52463960C>T	UniProt,dbSNP
TOX3	O15405	p.Val128Met	VAR_055952	missense variant	-	NC_000016.10:g.52463960C>T	UniProt
TOX3	O15405	p.Leu129Phe	rs201752610	missense variant	-	NC_000016.10:g.52463957G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.His130Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52463953T>G	NCI-TCGA
TOX3	O15405	p.His130Gln	rs538021558	missense variant	-	NC_000016.10:g.52463952A>C	gnomAD
TOX3	O15405	p.Ser131Asn	rs761945302	missense variant	-	NC_000016.10:g.52463950C>T	ExAC,gnomAD
TOX3	O15405	p.Leu134Met	rs1232109311	missense variant	-	NC_000016.10:g.52463942A>T	gnomAD
TOX3	O15405	p.His135Arg	rs370436866	missense variant	-	NC_000016.10:g.52463938T>C	1000Genomes,ESP,ExAC,gnomAD
TOX3	O15405	p.His135Leu	rs370436866	missense variant	-	NC_000016.10:g.52463938T>A	1000Genomes,ESP,ExAC,gnomAD
TOX3	O15405	p.Met136Thr	rs1271638069	missense variant	-	NC_000016.10:g.52463935A>G	TOPMed
TOX3	O15405	p.Met136Ile	rs1304432978	missense variant	-	NC_000016.10:g.52463934C>A	gnomAD
TOX3	O15405	p.Met136Val	rs552684062	missense variant	-	NC_000016.10:g.52463936T>C	1000Genomes,ExAC,gnomAD
TOX3	O15405	p.Gln138Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.52450543G>A	NCI-TCGA
TOX3	O15405	p.Ser139Asn	rs1004983981	missense variant	-	NC_000016.10:g.52450539C>T	TOPMed
TOX3	O15405	p.Ser139Arg	rs1258579042	missense variant	-	NC_000016.10:g.52450538G>T	gnomAD
TOX3	O15405	p.Val143Ala	rs564895278	missense variant	-	NC_000016.10:g.52450527A>G	1000Genomes,ExAC,gnomAD
TOX3	O15405	p.Ser144Phe	rs751601017	missense variant	-	NC_000016.10:g.52450524G>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Tyr146His	COSM971395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52450519A>G	NCI-TCGA Cosmic
TOX3	O15405	p.Arg147Gln	rs201164572	missense variant	-	NC_000016.10:g.52450515C>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg147Trp	rs573103587	missense variant	-	NC_000016.10:g.52450516G>A	1000Genomes,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gln148Pro	rs1043079985	missense variant	-	NC_000016.10:g.52450512T>G	TOPMed,gnomAD
TOX3	O15405	p.Gln148Arg	rs1043079985	missense variant	-	NC_000016.10:g.52450512T>C	TOPMed,gnomAD
TOX3	O15405	p.Asp149Val	rs765077291	missense variant	-	NC_000016.10:g.52450509T>A	ExAC
TOX3	O15405	p.Asp149Asn	rs1445335204	missense variant	-	NC_000016.10:g.52450510C>T	gnomAD
TOX3	O15405	p.Asp149Tyr	rs1445335204	missense variant	-	NC_000016.10:g.52450510C>A	gnomAD
TOX3	O15405	p.Pro150Ala	rs759291632	missense variant	-	NC_000016.10:g.52450507G>C	ExAC,gnomAD
TOX3	O15405	p.Ser151Phe	rs375929325	missense variant	-	NC_000016.10:g.52450503G>A	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Leu152Val	rs770661385	missense variant	-	NC_000016.10:g.52450501G>C	ExAC,gnomAD
TOX3	O15405	p.Ile153Thr	rs945726657	missense variant	-	NC_000016.10:g.52450497A>G	TOPMed,gnomAD
TOX3	O15405	p.Met154Thr	rs1336358754	missense variant	-	NC_000016.10:g.52450494A>G	TOPMed
TOX3	O15405	p.Arg155Gln	rs200208189	missense variant	-	NC_000016.10:g.52450491C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg155Trp	rs1173578011	missense variant	-	NC_000016.10:g.52450492G>A	TOPMed,gnomAD
TOX3	O15405	p.Ser156Phe	COSM3510212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52450488G>A	NCI-TCGA Cosmic
TOX3	O15405	p.Ser156Pro	rs772779923	missense variant	-	NC_000016.10:g.52450489A>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Val158Ile	rs369028802	missense variant	-	NC_000016.10:g.52450483C>T	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Met160Leu	rs770162573	missense variant	-	NC_000016.10:g.52450477T>G	ExAC,gnomAD
TOX3	O15405	p.Met160Thr	rs367924123	missense variant	-	NC_000016.10:g.52450476A>G	ESP,ExAC,gnomAD
TOX3	O15405	p.Met160Val	rs770162573	missense variant	-	NC_000016.10:g.52450477T>C	ExAC,gnomAD
TOX3	O15405	p.Thr161Ile	rs781570038	missense variant	-	NC_000016.10:g.52450473G>A	ExAC,gnomAD
TOX3	O15405	p.Asp162Asn	rs202068223	missense variant	-	NC_000016.10:g.52450471C>T	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala163Val	rs1349809510	missense variant	-	NC_000016.10:g.52450467G>A	gnomAD
TOX3	O15405	p.Ala164Val	rs368183535	missense variant	-	NC_000016.10:g.52450464G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg165Cys	rs752653368	missense variant	-	NC_000016.10:g.52450462G>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg165Leu	rs765140161	missense variant	-	NC_000016.10:g.52450461C>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg165Pro	rs765140161	missense variant	-	NC_000016.10:g.52450461C>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg165His	rs765140161	missense variant	-	NC_000016.10:g.52450461C>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser166Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52450458G>A	NCI-TCGA
TOX3	O15405	p.Gln173Lys	COSM1378299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52450438G>T	NCI-TCGA Cosmic
TOX3	O15405	p.Leu174Ile	rs374622397	missense variant	-	NC_000016.10:g.52450435G>T	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Thr175Pro	rs371471795	missense variant	-	NC_000016.10:g.52450432T>G	ESP,ExAC,gnomAD
TOX3	O15405	p.Ile177Val	rs1420615602	missense variant	-	NC_000016.10:g.52450426T>C	gnomAD
TOX3	O15405	p.Ser180Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52450417A>G	NCI-TCGA
TOX3	O15405	p.Ser180Tyr	rs766278719	missense variant	-	NC_000016.10:g.52450416G>T	ExAC,gnomAD
TOX3	O15405	p.Gln181Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.52450414G>A	NCI-TCGA
TOX3	O15405	p.Leu182Phe	rs760342139	missense variant	-	NC_000016.10:g.52450411G>A	ExAC,gnomAD
TOX3	O15405	p.Ser183Cys	rs969462101	missense variant	-	NC_000016.10:g.52450408T>A	gnomAD
TOX3	O15405	p.Ser183Asn	rs1188581671	missense variant	-	NC_000016.10:g.52450407C>T	gnomAD
TOX3	O15405	p.Ala184Thr	rs114182621	missense variant	-	NC_000016.10:g.52450405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala184Asp	rs558141024	missense variant	-	NC_000016.10:g.52450404G>T	1000Genomes,ExAC
TOX3	O15405	p.Gln185His	COSM703473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52450400C>A	NCI-TCGA Cosmic
TOX3	O15405	p.Gln185His	rs770149446	missense variant	-	NC_000016.10:g.52450400C>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gly187Trp	rs1317193807	missense variant	-	NC_000016.10:g.52450396C>A	TOPMed,gnomAD
TOX3	O15405	p.Gly187Glu	rs370542526	missense variant	-	NC_000016.10:g.52450395C>T	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gly187Arg	rs1317193807	missense variant	-	NC_000016.10:g.52450396C>T	TOPMed,gnomAD
TOX3	O15405	p.Gly187Val	rs370542526	missense variant	-	NC_000016.10:g.52450395C>A	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gly191Val	rs1315309030	missense variant	-	NC_000016.10:g.52450383C>A	TOPMed,gnomAD
TOX3	O15405	p.Gly192Asp	rs1341951326	missense variant	-	NC_000016.10:g.52450380C>T	TOPMed
TOX3	O15405	p.Ala193Ser	rs776924792	missense variant	-	NC_000016.10:g.52450378C>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala193Thr	rs776924792	missense variant	-	NC_000016.10:g.52450378C>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser194Asn	rs534673058	missense variant	-	NC_000016.10:g.52450374C>T	1000Genomes,ExAC,gnomAD
TOX3	O15405	p.Met195Ile	rs376003882	missense variant	-	NC_000016.10:g.52450370C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Met195Thr	rs747227764	missense variant	-	NC_000016.10:g.52450371A>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Thr198Ala	rs1429037117	missense variant	-	NC_000016.10:g.52450363T>C	TOPMed
TOX3	O15405	p.Ser201Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52450353G>A	NCI-TCGA
TOX3	O15405	p.Pro202Ser	rs373268092	missense variant	-	NC_000016.10:g.52450351G>A	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser205Thr	rs753836987	missense variant	-	NC_000016.10:g.52450341C>G	ExAC,gnomAD
TOX3	O15405	p.Lys206Asn	rs1404777742	missense variant	-	NC_000016.10:g.52450337T>G	gnomAD
TOX3	O15405	p.Ser207Pro	rs766260286	missense variant	-	NC_000016.10:g.52450336A>G	ExAC,gnomAD
TOX3	O15405	p.Ile216Val	rs1301733747	missense variant	-	NC_000016.10:g.52450309T>C	TOPMed
TOX3	O15405	p.Asn217Ser	rs767123926	missense variant	-	NC_000016.10:g.52450305T>C	ExAC
TOX3	O15405	p.Glu219Asp	rs761547535	missense variant	-	NC_000016.10:g.52450298C>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala221Gly	rs773670387	missense variant	-	NC_000016.10:g.52450293G>C	ExAC,gnomAD
TOX3	O15405	p.Ala224Thr	rs1384392045	missense variant	-	NC_000016.10:g.52450285C>T	TOPMed
TOX3	O15405	p.Ala224Gly	rs73583125	missense variant	-	NC_000016.10:g.52450284G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg226Lys	rs1218947197	missense variant	-	NC_000016.10:g.52450278C>T	gnomAD
TOX3	O15405	p.Ile228Val	rs762489929	missense variant	-	NC_000016.10:g.52446218T>C	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Glu230Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52446210C>A	NCI-TCGA
TOX3	O15405	p.Arg232Gly	COSM971389	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52446206T>C	NCI-TCGA Cosmic
TOX3	O15405	p.Ala233Pro	rs1401070456	missense variant	-	NC_000016.10:g.52446203C>G	TOPMed,gnomAD
TOX3	O15405	p.Ala233Gly	rs1205835548	missense variant	-	NC_000016.10:g.52446202G>C	gnomAD
TOX3	O15405	p.Ser237TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52446189_52446190AG>-	NCI-TCGA
TOX3	O15405	p.Lys239Arg	COSM1324410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52446184T>C	NCI-TCGA Cosmic
TOX3	O15405	p.Lys239Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52446183C>A	NCI-TCGA
TOX3	O15405	p.Lys240Asn	rs761279511	missense variant	-	NC_000016.10:g.52446180C>A	ExAC,gnomAD
TOX3	O15405	p.Pro241His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52446178G>T	NCI-TCGA
TOX3	O15405	p.Thr243Ile	rs773384434	missense variant	-	NC_000016.10:g.52446172G>A	ExAC,gnomAD
TOX3	O15405	p.Pro244Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52446170G>A	NCI-TCGA
TOX3	O15405	p.Lys247Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52446159C>G	NCI-TCGA
TOX3	O15405	p.Lys248Thr	rs772496329	missense variant	-	NC_000016.10:g.52446157T>G	ExAC,gnomAD
TOX3	O15405	p.Lys250Gln	rs569021689	missense variant	-	NC_000016.10:g.52446152T>G	1000Genomes,ExAC,gnomAD
TOX3	O15405	p.Pro252Leu	rs376656487	missense variant	-	NC_000016.10:g.52446145G>A	ESP
TOX3	O15405	p.Asn253Ser	rs1390608064	missense variant	-	NC_000016.10:g.52446142T>C	TOPMed
TOX3	O15405	p.Glu254Gln	rs373175918	missense variant	-	NC_000016.10:g.52446140C>G	ESP,ExAC,gnomAD
TOX3	O15405	p.Pro255Ala	rs749427716	missense variant	-	NC_000016.10:g.52446137G>C	ExAC,gnomAD
TOX3	O15405	p.Tyr262Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52446115T>C	NCI-TCGA
TOX3	O15405	p.Ala263Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52446112G>A	NCI-TCGA
TOX3	O15405	p.Phe265Tyr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52446106A>T	NCI-TCGA
TOX3	O15405	p.Ala271Val	rs368713418	missense variant	-	NC_000016.10:g.52446088G>A	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala271Asp	rs368713418	missense variant	-	NC_000016.10:g.52446088G>T	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ile273Val	rs745821258	missense variant	-	NC_000016.10:g.52446083T>C	ExAC,gnomAD
TOX3	O15405	p.Gly275Ser	rs376846754	missense variant	-	NC_000016.10:g.52446077C>T	ESP,ExAC,gnomAD
TOX3	O15405	p.Gln276Ter	COSM971387	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.52446074G>A	NCI-TCGA Cosmic
TOX3	O15405	p.Asn277Ser	rs757143628	missense variant	-	NC_000016.10:g.52446070T>C	ExAC
TOX3	O15405	p.Pro278Ser	rs751141352	missense variant	-	NC_000016.10:g.52446068G>A	ExAC,gnomAD
TOX3	O15405	p.Pro278Thr	rs751141352	missense variant	-	NC_000016.10:g.52446068G>T	ExAC,gnomAD
TOX3	O15405	p.Asn279Ser	rs184096376	missense variant	-	NC_000016.10:g.52446064T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Asn279Ile	rs184096376	missense variant	-	NC_000016.10:g.52446064T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Asn279Thr	rs184096376	missense variant	-	NC_000016.10:g.52446064T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala280Thr	rs200878352	missense variant	-	NC_000016.10:g.52446062C>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Thr281Ala	rs1349072901	missense variant	-	NC_000016.10:g.52446059T>C	gnomAD
TOX3	O15405	p.Thr281Ile	rs761026810	missense variant	-	NC_000016.10:g.52446058G>A	ExAC,gnomAD
TOX3	O15405	p.Met292Val	rs750994556	missense variant	-	NC_000016.10:g.52446026T>C	ExAC,gnomAD
TOX3	O15405	p.Ser295Arg	rs762274462	missense variant	-	NC_000016.10:g.52446015G>C	ExAC,TOPMed
TOX3	O15405	p.Ser295Gly	rs767765663	missense variant	-	NC_000016.10:g.52446017T>C	ExAC,gnomAD
TOX3	O15405	p.Leu296ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52446014_52446015insTGCATGT	NCI-TCGA
TOX3	O15405	p.Lys301Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52445997C>A	NCI-TCGA
TOX3	O15405	p.Gln302Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.52445996G>A	NCI-TCGA
TOX3	O15405	p.Lys305Thr	COSM971385	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52444349T>G	NCI-TCGA Cosmic
TOX3	O15405	p.Lys307Glu	rs1241226291	missense variant	-	NC_000016.10:g.52444344T>C	TOPMed,gnomAD
TOX3	O15405	p.Glu314AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52444324T>-	NCI-TCGA
TOX3	O15405	p.Glu314ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52444323_52444324insT	NCI-TCGA
TOX3	O15405	p.Tyr315Asn	rs1310423573	missense variant	-	NC_000016.10:g.52444320A>T	gnomAD
TOX3	O15405	p.Leu319Met	COSM971383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52444308G>T	NCI-TCGA Cosmic
TOX3	O15405	p.Ala320Val	rs371378216	missense variant	-	NC_000016.10:g.52444304G>A	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Tyr322Asn	rs1397711483	missense variant	-	NC_000016.10:g.52444299A>T	gnomAD
TOX3	O15405	p.Arg323Lys	COSM1378295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52444295C>T	NCI-TCGA Cosmic
TOX3	O15405	p.Ser325Ile	rs763207906	missense variant	-	NC_000016.10:g.52444289C>A	ExAC
TOX3	O15405	p.Ser325Gly	rs764556506	missense variant	-	NC_000016.10:g.52444290T>C	ExAC
TOX3	O15405	p.Ser325Arg	rs1454839681	missense variant	-	NC_000016.10:g.52444288G>T	gnomAD
TOX3	O15405	p.Leu326Ile	rs775922823	missense variant	-	NC_000016.10:g.52444287G>T	ExAC
TOX3	O15405	p.Leu326Arg	rs765201436	missense variant	-	NC_000016.10:g.52444286A>C	ExAC
TOX3	O15405	p.Val327Ile	rs370721262	missense variant	-	NC_000016.10:g.52444284C>T	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala332Val	rs748896812	missense variant	-	NC_000016.10:g.52439961G>A	ExAC,gnomAD
TOX3	O15405	p.Ala332Thr	rs1409969275	missense variant	-	NC_000016.10:g.52439962C>T	gnomAD
TOX3	O15405	p.Ala337Thr	rs779557110	missense variant	-	NC_000016.10:g.52439947C>T	ExAC,gnomAD
TOX3	O15405	p.Gln338Lys	rs1464882312	missense variant	-	NC_000016.10:g.52439944G>T	gnomAD
TOX3	O15405	p.Gln338Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439944G>C	NCI-TCGA
TOX3	O15405	p.Arg341His	rs1033955763	missense variant	-	NC_000016.10:g.52439934C>T	TOPMed,gnomAD
TOX3	O15405	p.Arg341Leu	COSM703479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52439934C>A	NCI-TCGA Cosmic
TOX3	O15405	p.Arg341Cys	rs948733706	missense variant	-	NC_000016.10:g.52439935G>A	gnomAD
TOX3	O15405	p.Val343Ile	rs755741996	missense variant	-	NC_000016.10:g.52439929C>T	ExAC,gnomAD
TOX3	O15405	p.Thr346Asn	rs1000682430	missense variant	-	NC_000016.10:g.52439919G>T	TOPMed
TOX3	O15405	p.Thr346Ala	rs747488842	missense variant	-	NC_000016.10:g.52439920T>C	ExAC,gnomAD
TOX3	O15405	p.Ala348Thr	rs1042123962	missense variant	-	NC_000016.10:g.52439914C>T	TOPMed,gnomAD
TOX3	O15405	p.Ala348Val	rs758997487	missense variant	-	NC_000016.10:g.52439913G>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser349Pro	rs1342642228	missense variant	-	NC_000016.10:g.52439911A>G	gnomAD
TOX3	O15405	p.Ser349Leu	rs779154429	missense variant	-	NC_000016.10:g.52439910G>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Thr350GlnLeuHisCys	NCI-TCGA novel	insertion	-	NC_000016.10:g.52439906_52439907insCAGTGTAGCTGA	NCI-TCGA
TOX3	O15405	p.Asn351SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52439904_52439905insAGGCAATAAGAAC	NCI-TCGA
TOX3	O15405	p.Asn351Lys	rs754068580	missense variant	-	NC_000016.10:g.52439903A>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Asn351Ser	rs961756492	missense variant	-	NC_000016.10:g.52439904T>C	TOPMed,gnomAD
TOX3	O15405	p.Thr353Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439899T>A	NCI-TCGA
TOX3	O15405	p.Thr353Ile	rs374364445	missense variant	-	NC_000016.10:g.52439898G>A	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser354Thr	rs1394590249	missense variant	-	NC_000016.10:g.52439896A>T	gnomAD
TOX3	O15405	p.Leu356Val	rs1038960680	missense variant	-	NC_000016.10:g.52439890G>C	TOPMed,gnomAD
TOX3	O15405	p.Leu357Phe	rs984683447	missense variant	-	NC_000016.10:g.52439887G>A	gnomAD
TOX3	O15405	p.Leu358Phe	rs767390141	missense variant	-	NC_000016.10:g.52439884G>A	ExAC,gnomAD
TOX3	O15405	p.Asn359Ile	rs1158110121	missense variant	-	NC_000016.10:g.52439880T>A	gnomAD
TOX3	O15405	p.Thr360Ser	rs774127935	missense variant	-	NC_000016.10:g.52439878T>A	ExAC,gnomAD
TOX3	O15405	p.Ser363Cys	rs1382718921	missense variant	-	NC_000016.10:g.52439868G>C	TOPMed
TOX3	O15405	p.Gln364Ter	COSM5643711	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.52439866G>A	NCI-TCGA Cosmic
TOX3	O15405	p.Gln364Arg	rs1484530771	missense variant	-	NC_000016.10:g.52439865T>C	gnomAD
TOX3	O15405	p.His365Arg	rs762652597	missense variant	-	NC_000016.10:g.52439862T>C	ExAC,gnomAD
TOX3	O15405	p.Gly366Ala	rs561674364	missense variant	-	NC_000016.10:g.52439859C>G	1000Genomes
TOX3	O15405	p.Gly366Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439860C>T	NCI-TCGA
TOX3	O15405	p.Val368GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52439853_52439854insC	NCI-TCGA
TOX3	O15405	p.Ser369Thr	rs1283474466	missense variant	-	NC_000016.10:g.52439851A>T	gnomAD
TOX3	O15405	p.Ala370Val	rs1350778382	missense variant	-	NC_000016.10:g.52439847G>A	gnomAD
TOX3	O15405	p.Ser371Leu	rs769408166	missense variant	-	NC_000016.10:g.52439844G>A	ExAC,gnomAD
TOX3	O15405	p.Ser371CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52439844_52439845insCAAACCCAGC	NCI-TCGA
TOX3	O15405	p.Pro372Leu	rs941506171	missense variant	-	NC_000016.10:g.52439841G>A	TOPMed
TOX3	O15405	p.Gln373Glu	rs745322355	missense variant	-	NC_000016.10:g.52439839G>C	ExAC,gnomAD
TOX3	O15405	p.Gln373Arg	rs780882008	missense variant	-	NC_000016.10:g.52439838T>C	ExAC,gnomAD
TOX3	O15405	p.Gln377Pro	rs1313922897	missense variant	-	NC_000016.10:g.52439826T>G	gnomAD
TOX3	O15405	p.Arg381Lys	rs748620718	missense variant	-	NC_000016.10:g.52439814C>T	ExAC,gnomAD
TOX3	O15405	p.Ser382Leu	rs1317942555	missense variant	-	NC_000016.10:g.52439811G>A	TOPMed,gnomAD
TOX3	O15405	p.Ile383Val	rs541908617	missense variant	-	NC_000016.10:g.52439809T>C	1000Genomes,ExAC,gnomAD
TOX3	O15405	p.Ala384Thr	rs754057654	missense variant	-	NC_000016.10:g.52439806C>T	ExAC,gnomAD
TOX3	O15405	p.Pro385Arg	rs780301181	missense variant	-	NC_000016.10:g.52439802G>C	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Pro385Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439803G>A	NCI-TCGA
TOX3	O15405	p.Pro387Thr	rs1416852026	missense variant	-	NC_000016.10:g.52439797G>T	gnomAD
TOX3	O15405	p.Leu388Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.52439793A>T	NCI-TCGA
TOX3	O15405	p.Met390Leu	rs1486549876	missense variant	-	NC_000016.10:g.52439788T>G	gnomAD
TOX3	O15405	p.Arg391Lys	rs1239940521	missense variant	-	NC_000016.10:g.52439784C>T	gnomAD
TOX3	O15405	p.Leu392Pro	rs1188911955	missense variant	-	NC_000016.10:g.52439781A>G	TOPMed
TOX3	O15405	p.Leu392Ile	rs756347818	missense variant	-	NC_000016.10:g.52439782G>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Met394Arg	rs556136578	missense variant	-	NC_000016.10:g.52439775A>C	1000Genomes,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Met394Leu	rs971447282	missense variant	-	NC_000016.10:g.52439776T>A	TOPMed,gnomAD
TOX3	O15405	p.Asn395Asp	rs1166963215	missense variant	-	NC_000016.10:g.52439773T>C	TOPMed
TOX3	O15405	p.Asn395Lys	rs767588384	missense variant	-	NC_000016.10:g.52439771G>T	ExAC,gnomAD
TOX3	O15405	p.Gln396His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439768C>G	NCI-TCGA
TOX3	O15405	p.Ile397Phe	rs1231964775	missense variant	-	NC_000016.10:g.52439767T>A	gnomAD
TOX3	O15405	p.Ile397Val	rs1231964775	missense variant	-	NC_000016.10:g.52439767T>C	gnomAD
TOX3	O15405	p.Ile397Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439766A>T	NCI-TCGA
TOX3	O15405	p.Val398Phe	rs545781302	missense variant	-	NC_000016.10:g.52439764C>A	1000Genomes
TOX3	O15405	p.Ser400Leu	rs1294465822	missense variant	-	NC_000016.10:g.52439757G>A	gnomAD
TOX3	O15405	p.Ser400Ter	rs1294465822	stop gained	-	NC_000016.10:g.52439757G>C	gnomAD
TOX3	O15405	p.Val401Phe	rs751507413	missense variant	-	NC_000016.10:g.52439755C>A	ExAC,gnomAD
TOX3	O15405	p.Thr402Ile	rs763944853	missense variant	-	NC_000016.10:g.52439751G>A	ExAC,gnomAD
TOX3	O15405	p.Ile403Thr	rs183745522	missense variant	-	NC_000016.10:g.52439748A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala405Val	rs769532592	missense variant	-	NC_000016.10:g.52439742G>A	ExAC,gnomAD
TOX3	O15405	p.Ala405Thr	rs191245327	missense variant	-	NC_000016.10:g.52439743C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Asn406Ser	rs187946572	missense variant	-	NC_000016.10:g.52439739T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Met407Ile	rs776227810	missense variant	-	NC_000016.10:g.52439735C>T	ExAC,gnomAD
TOX3	O15405	p.Met407Leu	rs1459785335	missense variant	-	NC_000016.10:g.52439737T>G	gnomAD
TOX3	O15405	p.Pro408Leu	COSM435377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52439733G>A	NCI-TCGA Cosmic
TOX3	O15405	p.Pro408Ala	rs892204132	missense variant	-	NC_000016.10:g.52439734G>C	TOPMed
TOX3	O15405	p.Ser409Trp	rs568242113	missense variant	-	NC_000016.10:g.52439730G>C	1000Genomes,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser409Leu	rs568242113	missense variant	-	NC_000016.10:g.52439730G>A	1000Genomes,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ile411Met	rs769039398	missense variant	-	NC_000016.10:g.52439723A>C	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ile411Thr	rs777979701	missense variant	-	NC_000016.10:g.52439724A>G	ExAC,gnomAD
TOX3	O15405	p.Ile411Phe	rs748687119	missense variant	-	NC_000016.10:g.52439725T>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ile411Leu	rs748687119	missense variant	-	NC_000016.10:g.52439725T>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala413Ser	rs756261947	missense variant	-	NC_000016.10:g.52439719C>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala413Pro	rs756261947	missense variant	-	NC_000016.10:g.52439719C>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala413Asp	rs746103477	missense variant	-	NC_000016.10:g.52439718G>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala413Thr	rs756261947	missense variant	-	NC_000016.10:g.52439719C>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Leu415Gln	rs1274279562	missense variant	-	NC_000016.10:g.52439712A>T	gnomAD
TOX3	O15405	p.Ser417Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439706C>A	NCI-TCGA
TOX3	O15405	p.Ser418Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439704A>T	NCI-TCGA
TOX3	O15405	p.Met419Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439699C>A	NCI-TCGA
TOX3	O15405	p.Met419Val	rs757346831	missense variant	-	NC_000016.10:g.52439701T>C	ExAC,gnomAD
TOX3	O15405	p.Gly420Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439697C>T	NCI-TCGA
TOX3	O15405	p.Gly420Arg	rs756186491	missense variant	-	NC_000016.10:g.52439698C>T	TOPMed,gnomAD
TOX3	O15405	p.Thr421Met	rs751494331	missense variant	-	NC_000016.10:g.52439694G>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Thr421Ala	rs936518141	missense variant	-	NC_000016.10:g.52439695T>C	TOPMed,gnomAD
TOX3	O15405	p.Thr421Lys	rs751494331	missense variant	-	NC_000016.10:g.52439694G>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Thr422Asn	rs752368834	missense variant	-	NC_000016.10:g.52439691G>T	ExAC,gnomAD
TOX3	O15405	p.Met423Ile	rs890865493	missense variant	-	NC_000016.10:g.52439687C>A	TOPMed
TOX3	O15405	p.Met423Ile	rs890865493	missense variant	-	NC_000016.10:g.52439687C>T	TOPMed
TOX3	O15405	p.Met423Thr	rs765141298	missense variant	-	NC_000016.10:g.52439688A>G	ExAC,gnomAD
TOX3	O15405	p.Val424Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439686C>A	NCI-TCGA
TOX3	O15405	p.Gly425Asp	rs759253837	missense variant	-	NC_000016.10:g.52439682C>T	ExAC,gnomAD
TOX3	O15405	p.Ala427Gly	rs372487403	missense variant	-	NC_000016.10:g.52439676G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala427Val	rs372487403	missense variant	-	NC_000016.10:g.52439676G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala427Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439677C>T	NCI-TCGA
TOX3	O15405	p.Ser429Phe	rs772796688	missense variant	-	NC_000016.10:g.52439670G>A	ExAC,gnomAD
TOX3	O15405	p.Ser433Asn	rs775772232	missense variant	-	NC_000016.10:g.52439658C>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser435Leu	rs146046759	missense variant	-	NC_000016.10:g.52439652G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Val436Met	rs552173538	missense variant	-	NC_000016.10:g.52439650C>T	1000Genomes,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gln440Pro	rs373983179	missense variant	-	NC_000016.10:g.52439637T>G	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gln440His	rs752742451	missense variant	-	NC_000016.10:g.52439636C>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gln440Lys	rs1205599603	missense variant	-	NC_000016.10:g.52439638G>T	gnomAD
TOX3	O15405	p.His441Arg	rs758308915	missense variant	-	NC_000016.10:g.52439634T>C	TOPMed
TOX3	O15405	p.Met443Thr	rs1233920676	missense variant	-	NC_000016.10:g.52439628A>G	gnomAD
TOX3	O15405	p.Gln444His	rs765123140	missense variant	-	NC_000016.10:g.52439624T>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Leu445Phe	rs753514770	missense variant	-	NC_000016.10:g.52439621C>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Leu445TerMet	rs763634129	stop gained	-	NC_000016.10:g.52439622_52439623insTCT	ExAC
TOX3	O15405	p.Gln449His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439609C>A	NCI-TCGA
TOX3	O15405	p.Gln450His	rs532347689	missense variant	-	NC_000016.10:g.52439606C>A	1000Genomes
TOX3	O15405	p.Gln450Arg	rs1371029891	missense variant	-	NC_000016.10:g.52439607T>C	gnomAD
TOX3	O15405	p.Gln451Arg	rs1490789788	missense variant	-	NC_000016.10:g.52439604T>C	TOPMed
TOX3	O15405	p.Gln452Arg	rs1442582134	missense variant	-	NC_000016.10:g.52439601T>C	gnomAD
TOX3	O15405	p.Met456Thr	rs371792651	missense variant	-	NC_000016.10:g.52439589A>G	ESP,ExAC,gnomAD
TOX3	O15405	p.Met456Leu	rs1164393813	missense variant	-	NC_000016.10:g.52439590T>G	TOPMed
TOX3	O15405	p.Met456Lys	rs371792651	missense variant	-	NC_000016.10:g.52439589A>T	ESP,ExAC,gnomAD
TOX3	O15405	p.Met456Ile	rs772527716	missense variant	-	NC_000016.10:g.52439588C>G	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gln457Leu	rs1433784908	missense variant	-	NC_000016.10:g.52439586T>A	gnomAD
TOX3	O15405	p.Met459Val	rs767066309	missense variant	-	NC_000016.10:g.52439581T>C	ExAC,gnomAD
TOX3	O15405	p.Gln462Lys	rs1416810306	missense variant	-	NC_000016.10:g.52439572G>T	gnomAD
TOX3	O15405	p.Gln466Lys	rs776043888	missense variant	-	NC_000016.10:g.52439560G>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.His467Asp	rs770112295	missense variant	-	NC_000016.10:g.52439557G>C	ExAC,gnomAD
TOX3	O15405	p.Met469Ile	COSM1230099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.52439549C>T	NCI-TCGA Cosmic
TOX3	O15405	p.Met469Ile	rs1393148570	missense variant	-	NC_000016.10:g.52439549C>G	TOPMed
TOX3	O15405	p.Gln472His	rs759846240	missense variant	-	NC_000016.10:g.52439540T>A	ExAC,gnomAD
TOX3	O15405	p.Ile473Thr	rs1282768190	missense variant	-	NC_000016.10:g.52439538A>G	gnomAD
TOX3	O15405	p.Gln479His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439519C>A	NCI-TCGA
TOX3	O15405	p.Gln480Pro	rs1238197095	missense variant	-	NC_000016.10:g.52439517T>G	TOPMed
TOX3	O15405	p.His484Asn	rs371036139	missense variant	-	NC_000016.10:g.52439506G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.His484Arg	rs1352089399	missense variant	-	NC_000016.10:g.52439505T>C	gnomAD
TOX3	O15405	p.His484Tyr	rs371036139	missense variant	-	NC_000016.10:g.52439506G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.His485Tyr	rs1413762070	missense variant	-	NC_000016.10:g.52439503G>A	gnomAD
TOX3	O15405	p.His489Leu	rs1314359161	missense variant	-	NC_000016.10:g.52439490T>A	gnomAD
TOX3	O15405	p.His489Tyr	rs1243515097	missense variant	-	NC_000016.10:g.52439491G>A	TOPMed
TOX3	O15405	p.Leu490Val	rs1362774895	missense variant	-	NC_000016.10:g.52439488G>C	TOPMed,gnomAD
TOX3	O15405	p.Gln492Arg	rs1160468177	missense variant	-	NC_000016.10:g.52439481T>C	TOPMed,gnomAD
TOX3	O15405	p.Gln493Lys	rs1421442490	missense variant	-	NC_000016.10:g.52439479G>T	TOPMed,gnomAD
TOX3	O15405	p.Gln495His	rs376306249	missense variant	-	NC_000016.10:g.52439471C>A	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gln499Lys	rs949337795	missense variant	-	NC_000016.10:g.52439461G>T	TOPMed,gnomAD
TOX3	O15405	p.Gln500Ter	rs1259790811	stop gained	-	NC_000016.10:g.52439458G>A	gnomAD
TOX3	O15405	p.Gln500Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439458G>C	NCI-TCGA
TOX3	O15405	p.Gln500Arg	rs779046511	missense variant	-	NC_000016.10:g.52439457T>C	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Asn502Ser	rs1303070989	missense variant	-	NC_000016.10:g.52439451T>C	TOPMed,gnomAD
TOX3	O15405	p.Leu506Pro	rs1057157420	missense variant	-	NC_000016.10:g.52439439A>G	TOPMed
TOX3	O15405	p.Gln507Ter	COSM3818083	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.52439437G>A	NCI-TCGA Cosmic
TOX3	O15405	p.Gln507Arg	rs1261455233	missense variant	-	NC_000016.10:g.52439436T>C	gnomAD
TOX3	O15405	p.Gln509Glu	rs1291384563	missense variant	-	NC_000016.10:g.52439431G>C	gnomAD
TOX3	O15405	p.Leu510Gln	rs955125665	missense variant	-	NC_000016.10:g.52439427A>T	TOPMed
TOX3	O15405	p.Arg513Cys	rs200998313	missense variant	-	NC_000016.10:g.52439419G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg513Ser	rs200998313	missense variant	-	NC_000016.10:g.52439419G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg513His	rs1249328563	missense variant	-	NC_000016.10:g.52439418C>T	TOPMed
TOX3	O15405	p.Gln517Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439406T>A	NCI-TCGA
TOX3	O15405	p.Gln518His	rs142789789	missense variant	-	NC_000016.10:g.52439402C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.His521Tyr	rs750146496	missense variant	-	NC_000016.10:g.52439395G>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.His521Asp	rs750146496	missense variant	-	NC_000016.10:g.52439395G>C	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Met522Ile	rs1168580565	missense variant	-	NC_000016.10:g.52439390C>T	TOPMed
TOX3	O15405	p.Met522Leu	rs1430729304	missense variant	-	NC_000016.10:g.52439392T>A	TOPMed
TOX3	O15405	p.His524Leu	rs1420546629	missense variant	-	NC_000016.10:g.52439385T>A	gnomAD
TOX3	O15405	p.Gln525Pro	rs1191296889	missense variant	-	NC_000016.10:g.52439382T>G	gnomAD
TOX3	O15405	p.Pro528Arg	rs761352778	missense variant	-	NC_000016.10:g.52439373G>C	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Pro528Leu	rs761352778	missense variant	-	NC_000016.10:g.52439373G>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser529MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52439371_52439372insGTGGCAT	NCI-TCGA
TOX3	O15405	p.Pro530Ser	rs765694161	missense variant	-	NC_000016.10:g.52439368G>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Arg531Gly	rs921473080	missense variant	-	NC_000016.10:g.52439365G>C	TOPMed,gnomAD
TOX3	O15405	p.Arg531Trp	rs921473080	missense variant	-	NC_000016.10:g.52439365G>A	TOPMed,gnomAD
TOX3	O15405	p.Arg531Gln	rs368895361	missense variant	-	NC_000016.10:g.52439364C>T	ESP,ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gln532Ter	rs1335235301	stop gained	-	NC_000016.10:g.52439362G>A	gnomAD
TOX3	O15405	p.His533Tyr	rs1047240525	missense variant	-	NC_000016.10:g.52439359G>A	TOPMed,gnomAD
TOX3	O15405	p.Ser534Phe	rs771386648	missense variant	-	NC_000016.10:g.52439355G>A	ExAC,gnomAD
TOX3	O15405	p.Ser534Tyr	rs771386648	missense variant	-	NC_000016.10:g.52439355G>T	ExAC,gnomAD
TOX3	O15405	p.Pro535Ser	rs183247983	missense variant	-	NC_000016.10:g.52439353G>A	1000Genomes,ExAC,gnomAD
TOX3	O15405	p.Val536Ile	rs748186013	missense variant	-	NC_000016.10:g.52439350C>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ala537Thr	rs768645667	missense variant	-	NC_000016.10:g.52439347C>T	ExAC,gnomAD
TOX3	O15405	p.Ser538Cys	rs749247384	missense variant	-	NC_000016.10:g.52439343G>C	ExAC,gnomAD
TOX3	O15405	p.Gln539His	rs1166564030	missense variant	-	NC_000016.10:g.52439339C>A	gnomAD
TOX3	O15405	p.Thr541Arg	rs779699137	missense variant	-	NC_000016.10:g.52439334G>C	ExAC,gnomAD
TOX3	O15405	p.Ser542Thr	rs756001275	missense variant	-	NC_000016.10:g.52439332A>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser542Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439331G>A	NCI-TCGA
TOX3	O15405	p.Ser542Cys	rs988379472	missense variant	-	NC_000016.10:g.52439331G>C	gnomAD
TOX3	O15405	p.Pro543Thr	rs868557969	missense variant	-	NC_000016.10:g.52439329G>T	gnomAD
TOX3	O15405	p.Pro543Ser	rs868557969	missense variant	-	NC_000016.10:g.52439329G>A	gnomAD
TOX3	O15405	p.Ile544SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.52439327G>-	NCI-TCGA
TOX3	O15405	p.Ile547Thr	rs1253147640	missense variant	-	NC_000016.10:g.52439316A>G	gnomAD
TOX3	O15405	p.Ile547Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439315G>C	NCI-TCGA
TOX3	O15405	p.Ile547Leu	rs780946418	missense variant	-	NC_000016.10:g.52439317T>G	ExAC,gnomAD
TOX3	O15405	p.Gly548Arg	rs751004511	missense variant	-	NC_000016.10:g.52439314C>T	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ser549Asn	rs1203576992	missense variant	-	NC_000016.10:g.52439310C>T	TOPMed
TOX3	O15405	p.Ser549Arg	rs763609312	missense variant	-	NC_000016.10:g.52439309G>C	ExAC,gnomAD
TOX3	O15405	p.Gln551Arg	rs1182357054	missense variant	-	NC_000016.10:g.52439304T>C	gnomAD
TOX3	O15405	p.Ala553Thr	rs1251471275	missense variant	-	NC_000016.10:g.52439299C>T	gnomAD
TOX3	O15405	p.Ala553Val	rs760024219	missense variant	-	NC_000016.10:g.52439298G>A	ExAC
TOX3	O15405	p.Ser554Cys	rs1487018769	missense variant	-	NC_000016.10:g.52439295G>C	TOPMed
TOX3	O15405	p.Gln555Arg	rs766624179	missense variant	-	NC_000016.10:g.52439292T>C	ExAC,gnomAD
TOX3	O15405	p.Gln556Arg	rs761154956	missense variant	-	NC_000016.10:g.52439289T>C	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Gln556His	rs1333283825	missense variant	-	NC_000016.10:g.52439288C>A	TOPMed,gnomAD
TOX3	O15405	p.His557Tyr	rs1327469472	missense variant	-	NC_000016.10:g.52439287G>A	gnomAD
TOX3	O15405	p.His557Gln	rs773476008	missense variant	-	NC_000016.10:g.52439285G>C	ExAC,gnomAD
TOX3	O15405	p.His557Arg	rs1391110847	missense variant	-	NC_000016.10:g.52439286T>C	gnomAD
TOX3	O15405	p.Gln558His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439282C>A	NCI-TCGA
TOX3	O15405	p.Ser559Leu	rs767805399	missense variant	-	NC_000016.10:g.52439280G>A	ExAC,TOPMed,gnomAD
TOX3	O15405	p.Ile561Thr	rs774512166	missense variant	-	NC_000016.10:g.52439274A>G	ExAC,gnomAD
TOX3	O15405	p.Gln562Arg	rs1174291926	missense variant	-	NC_000016.10:g.52439271T>C	gnomAD
TOX3	O15405	p.Ser563Pro	rs1379231704	missense variant	-	NC_000016.10:g.52439269A>G	gnomAD
TOX3	O15405	p.Gln568Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.52439253T>G	NCI-TCGA
TOX3	O15405	p.Leu570Phe	rs753536775	missense variant	-	NC_000016.10:g.52439246T>A	TOPMed
TOX3	O15405	p.Gln572Pro	rs13332816	missense variant	-	NC_000016.10:g.52439241T>G	TOPMed
TOX3	O15405	p.Gln572Arg	rs13332816	missense variant	-	NC_000016.10:g.52439241T>C	TOPMed
TOX3	O15405	p.Val573Phe	rs1345231851	missense variant	-	NC_000016.10:g.52439239C>A	gnomAD
TOX3	O15405	p.Val573Ile	rs1345231851	missense variant	-	NC_000016.10:g.52439239C>T	gnomAD
TOX3	O15405	p.Ile575Val	rs749232719	missense variant	-	NC_000016.10:g.52439233T>C	ExAC,TOPMed
TOX3	O15405	p.Phe576Ser	rs1206815248	missense variant	-	NC_000016.10:g.52439229A>G	gnomAD
FOXP2	O15409	p.Met2Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114426517G>C	NCI-TCGA
FOXP2	O15409	p.Ala6Val	rs764109995	missense variant	-	NC_000007.14:g.114426528C>T	ExAC,gnomAD
FOXP2	O15409	p.Ala6Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114426528C>G	NCI-TCGA
FOXP2	O15409	p.Thr7Pro	rs757351650	missense variant	-	NC_000007.14:g.114426530A>C	ExAC,gnomAD
FOXP2	O15409	p.Thr7Ile	rs377372067	missense variant	-	NC_000007.14:g.114426531C>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr9Ala	rs1476956484	missense variant	-	NC_000007.14:g.114426536A>G	TOPMed,gnomAD
FOXP2	O15409	p.Asn12Ser	rs1273852421	missense variant	-	NC_000007.14:g.114426546A>G	TOPMed
FOXP2	O15409	p.Ser13Asn	rs756555227	missense variant	-	NC_000007.14:g.114426549G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser13Gly	rs750736305	missense variant	-	NC_000007.14:g.114426548A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Met15Val	rs770093841	missense variant	-	NC_000007.14:g.114426554A>G	ExAC,gnomAD
FOXP2	O15409	p.Met15Ile	rs1386656928	missense variant	-	NC_000007.14:g.114426556G>A	gnomAD
FOXP2	O15409	p.Gln17Leu	rs201649896	missense variant	-	NC_000007.14:g.114426561A>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln17Leu	RCV000234933	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114426561A>T	ClinVar
FOXP2	O15409	p.Asn18Asp	rs763263115	missense variant	-	NC_000007.14:g.114426563A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn18Asp	RCV000319526	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114426563A>G	ClinVar
FOXP2	O15409	p.Met20Val	rs777361904	missense variant	-	NC_000007.14:g.114426569A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser21Asn	rs746524111	missense variant	-	NC_000007.14:g.114426573G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu23Arg	rs745618497	missense variant	-	NC_000007.14:g.114426579T>G	ExAC,gnomAD
FOXP2	O15409	p.Ser24Gly	rs181670107	missense variant	-	NC_000007.14:g.114426581A>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu27Ile	rs1169006435	missense variant	-	NC_000007.14:g.114426590T>A	TOPMed
FOXP2	O15409	p.Asp28Ala	rs762817913	missense variant	-	NC_000007.14:g.114426594A>C	ExAC,gnomAD
FOXP2	O15409	p.Asp28Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114426594A>G	NCI-TCGA
FOXP2	O15409	p.Ala29Asp	COSM1488143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114426597C>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Ala29Val	COSM1084233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114426597C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Ser31Gly	rs774408585	missense variant	-	NC_000007.14:g.114426602A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser31Asn	rs762007110	missense variant	-	NC_000007.14:g.114426603G>A	ExAC,gnomAD
FOXP2	O15409	p.Asp33Asn	COSM1084235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114426608G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Ser36Pro	rs750701057	missense variant	-	NC_000007.14:g.114426617T>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser37Asn	rs1164029715	missense variant	-	NC_000007.14:g.114426621G>A	gnomAD
FOXP2	O15409	p.Ser37Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114426621G>T	NCI-TCGA
FOXP2	O15409	p.Gly38Asp	rs760842249	missense variant	-	NC_000007.14:g.114426624G>A	ExAC,gnomAD
FOXP2	O15409	p.Gly38Asp	rs760842249	missense variant	-	NC_000007.14:g.114426624G>A	NCI-TCGA,NCI-TCGA Cosmic
FOXP2	O15409	p.Asp39Tyr	rs1423083583	missense variant	-	NC_000007.14:g.114426626G>T	gnomAD
FOXP2	O15409	p.Thr40Ile	rs185960561	missense variant	-	NC_000007.14:g.114426630C>T	1000Genomes,gnomAD
FOXP2	O15409	p.Ser41Gly	rs766803095	missense variant	-	NC_000007.14:g.114426632A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser41Asn	COSM1084237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114426633G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Ser42Cys	rs754271344	missense variant	-	NC_000007.14:g.114426636C>G	ExAC,gnomAD
FOXP2	O15409	p.Ser42Pro	rs942638508	missense variant	-	NC_000007.14:g.114426635T>C	gnomAD
FOXP2	O15409	p.Glu43Lys	rs1244944146	missense variant	-	NC_000007.14:g.114426638G>A	gnomAD
FOXP2	O15409	p.Val44Gly	rs1283187808	missense variant	-	NC_000007.14:g.114426642T>G	gnomAD
FOXP2	O15409	p.Ser45Thr	rs377588856	missense variant	-	NC_000007.14:g.114426645G>C	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr46IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.114426645_114426660GCACAGTAGAACTGCT>-	NCI-TCGA
FOXP2	O15409	p.Val47Ala	rs1254975807	missense variant	-	NC_000007.14:g.114426651T>C	TOPMed
FOXP2	O15409	p.Glu48Gly	rs1202904573	missense variant	-	NC_000007.14:g.114426654A>G	gnomAD
FOXP2	O15409	p.Glu48Lys	rs779632352	missense variant	-	NC_000007.14:g.114426653G>A	ExAC,gnomAD
FOXP2	O15409	p.Glu48Ter	COSM1084239	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114426653G>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Ala57Thr	rs748073993	missense variant	-	NC_000007.14:g.114534617G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu58Arg	COSM3877388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114534621T>G	NCI-TCGA Cosmic
FOXP2	O15409	p.Gln59His	COSM1447403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114534625G>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Ala61Ser	rs1452181228	missense variant	-	NC_000007.14:g.114534629G>T	gnomAD
FOXP2	O15409	p.Ala61Thr	rs1452181228	missense variant	-	NC_000007.14:g.114534629G>A	gnomAD
FOXP2	O15409	p.Gln63His	rs1357512652	missense variant	-	NC_000007.14:g.114534637A>T	TOPMed,gnomAD
FOXP2	O15409	p.Leu65Ile	rs777042566	missense variant	-	NC_000007.14:g.114534641C>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu66Ter	rs1554412300	stop gained	-	NC_000007.14:g.114534645T>G	-
FOXP2	O15409	p.Leu66Ter	RCV000624216	nonsense	Inborn genetic diseases	NC_000007.14:g.114534645T>G	ClinVar
FOXP2	O15409	p.Gln67Arg	rs765647678	missense variant	-	NC_000007.14:g.114534648A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln67Glu	rs759949520	missense variant	-	NC_000007.14:g.114534647C>G	ExAC,gnomAD
FOXP2	O15409	p.Gln67Ter	rs759949520	stop gained	-	NC_000007.14:g.114534647C>T	ExAC,gnomAD
FOXP2	O15409	p.Gln67Glu	RCV000279573	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114534647C>G	ClinVar
FOXP2	O15409	p.Thr70Ala	rs775730461	missense variant	-	NC_000007.14:g.114534656A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser71Arg	rs1237536573	missense variant	-	NC_000007.14:g.114534659A>C	gnomAD
FOXP2	O15409	p.Ser71Gly	rs1237536573	missense variant	-	NC_000007.14:g.114534659A>G	gnomAD
FOXP2	O15409	p.Gly72Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.114534662G>T	NCI-TCGA
FOXP2	O15409	p.Lys74Arg	rs1448096881	missense variant	-	NC_000007.14:g.114534669A>G	TOPMed
FOXP2	O15409	p.Ser75Phe	rs763449275	missense variant	-	NC_000007.14:g.114534672C>T	ExAC,gnomAD
FOXP2	O15409	p.Ser75Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114534672C>A	NCI-TCGA
FOXP2	O15409	p.Ser78Asn	rs764574245	missense variant	-	NC_000007.14:g.114534681G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser78Ile	rs764574245	missense variant	-	NC_000007.14:g.114534681G>T	ExAC,gnomAD
FOXP2	O15409	p.Ser78Gly	rs1056005508	missense variant	-	NC_000007.14:g.114534680A>G	gnomAD
FOXP2	O15409	p.Ser79Arg	rs749932113	missense variant	-	NC_000007.14:g.114534685T>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser79Asn	rs1416091793	missense variant	-	NC_000007.14:g.114534684G>A	gnomAD
FOXP2	O15409	p.Asp80Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114534686G>T	NCI-TCGA
FOXP2	O15409	p.Gln82His	rs755668650	missense variant	-	NC_000007.14:g.114534694G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Arg83Gly	rs765980960	missense variant	-	NC_000007.14:g.114534695A>G	ExAC,gnomAD
FOXP2	O15409	p.Pro84Ser	rs1419544157	missense variant	-	NC_000007.14:g.114534698C>T	TOPMed
FOXP2	O15409	p.Val87Met	rs1342506252	missense variant	-	NC_000007.14:g.114628540G>A	TOPMed,gnomAD
FOXP2	O15409	p.Pro88Ser	COSM1447404	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114628543C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Val89Met	rs1330279241	missense variant	-	NC_000007.14:g.114628546G>A	TOPMed
FOXP2	O15409	p.Ser90Ter	rs763737160	stop gained	-	NC_000007.14:g.114628550C>A	ExAC,gnomAD
FOXP2	O15409	p.Ser90Pro	rs762699659	missense variant	-	NC_000007.14:g.114628549T>C	ExAC,gnomAD
FOXP2	O15409	p.Ser90Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114628550C>T	NCI-TCGA
FOXP2	O15409	p.Val91Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114628552G>A	NCI-TCGA
FOXP2	O15409	p.Ala92Thr	rs868366293	missense variant	-	NC_000007.14:g.114628555G>A	gnomAD
FOXP2	O15409	p.Met94Lys	rs1436939063	missense variant	-	NC_000007.14:g.114628562T>A	gnomAD
FOXP2	O15409	p.Met94Ile	rs797045587	missense variant	-	NC_000007.14:g.114628563G>T	-
FOXP2	O15409	p.Met94Ile	COSM6176000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114628563G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Met94Ile	RCV000192462	missense variant	-	NC_000007.14:g.114628563G>T	ClinVar
FOXP2	O15409	p.Thr95Ser	rs757255710	missense variant	-	NC_000007.14:g.114628564A>T	ExAC,gnomAD
FOXP2	O15409	p.Gln97His	rs1168362217	missense variant	-	NC_000007.14:g.114628572G>C	TOPMed
FOXP2	O15409	p.Val98Met	rs750505654	missense variant	-	NC_000007.14:g.114628573G>A	ExAC,gnomAD
FOXP2	O15409	p.Val98Gly	rs756184095	missense variant	-	NC_000007.14:g.114628574T>G	ExAC,gnomAD
FOXP2	O15409	p.Ile99Phe	rs1347150082	missense variant	-	NC_000007.14:g.114628576A>T	gnomAD
FOXP2	O15409	p.Thr100Ile	rs780212480	missense variant	-	NC_000007.14:g.114628580C>T	ExAC,gnomAD
FOXP2	O15409	p.Gln103Lys	COSM6175997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114628588C>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Gln105Lys	COSM1084249	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114628594C>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Val112Phe	rs1428334171	missense variant	-	NC_000007.14:g.114628615G>T	gnomAD
FOXP2	O15409	p.Ser114Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114628622C>A	NCI-TCGA
FOXP2	O15409	p.Pro115Ser	rs1191637371	missense variant	-	NC_000007.14:g.114628624C>T	gnomAD
FOXP2	O15409	p.Gln116Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.114628627C>T	NCI-TCGA
FOXP2	O15409	p.Gln117His	rs773759127	missense variant	-	NC_000007.14:g.114628632G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala120Ser	rs1480440632	missense variant	-	NC_000007.14:g.114628639G>T	gnomAD
FOXP2	O15409	p.Leu121Phe	rs1403341767	missense variant	-	NC_000007.14:g.114628642C>T	gnomAD
FOXP2	O15409	p.Leu122Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114628645C>A	NCI-TCGA
FOXP2	O15409	p.Ala127Val	rs908446199	missense variant	-	NC_000007.14:g.114628661C>T	TOPMed
FOXP2	O15409	p.Leu130Arg	rs1383948441	missense variant	-	NC_000007.14:g.114628670T>G	gnomAD
FOXP2	O15409	p.Leu130Met	rs769148228	missense variant	-	NC_000007.14:g.114628669C>A	ExAC,gnomAD
FOXP2	O15409	p.Phe138Leu	rs772881522	missense variant	-	NC_000007.14:g.114629820T>C	ExAC,gnomAD
FOXP2	O15409	p.His147Arg	rs1441263206	missense variant	-	NC_000007.14:g.114629848A>G	TOPMed
FOXP2	O15409	p.Leu148Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114629850C>T	NCI-TCGA
FOXP2	O15409	p.Gln152Ter	rs1169702315	stop gained	-	NC_000007.14:g.114629862C>T	gnomAD
FOXP2	O15409	p.Gln155Glu	rs1338895971	missense variant	-	NC_000007.14:g.114629871C>G	gnomAD
FOXP2	O15409	p.Gln157Pro	rs770756604	missense variant	-	NC_000007.14:g.114629878A>C	ExAC,gnomAD
FOXP2	O15409	p.Gln158Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114629880C>A	NCI-TCGA
FOXP2	O15409	p.Gln159His	rs1391902915	missense variant	-	NC_000007.14:g.114629885G>T	TOPMed
FOXP2	O15409	p.Gln159Arg	rs1407370674	missense variant	-	NC_000007.14:g.114629884A>G	TOPMed
FOXP2	O15409	p.Gln160His	rs776670223	missense variant	-	NC_000007.14:g.114629888G>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln161Lys	COSM4941428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114629889C>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Gln167Ter	rs1038896563	stop gained	-	NC_000007.14:g.114629907C>T	TOPMed
FOXP2	O15409	p.Gln167Lys	rs1038896563	missense variant	-	NC_000007.14:g.114629907C>A	TOPMed
FOXP2	O15409	p.Gln168Ter	RCV000732893	nonsense	-	NC_000007.14:g.114629910C>T	ClinVar
FOXP2	O15409	p.Gln170Ter	rs893601763	stop gained	-	NC_000007.14:g.114629916C>T	TOPMed
FOXP2	O15409	p.Gln173Lys	rs564204446	missense variant	-	NC_000007.14:g.114629925C>A	1000Genomes,gnomAD
FOXP2	O15409	p.Gln173His	rs781437567	missense variant	-	NC_000007.14:g.114629927A>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln174Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.114629928C>T	NCI-TCGA
FOXP2	O15409	p.Gln174Glu	COSM6175994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114629928C>G	NCI-TCGA Cosmic
FOXP2	O15409	p.Gln177His	rs111801240	missense variant	-	NC_000007.14:g.114629939A>T	1000Genomes,ESP,TOPMed
FOXP2	O15409	p.Gln177SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.114629936_114629937insTC	NCI-TCGA
FOXP2	O15409	p.Gln178Leu	rs1243599633	missense variant	-	NC_000007.14:g.114629941A>T	gnomAD
FOXP2	O15409	p.Gln178GlnTer	rs1220494980	stop gained	-	NC_000007.14:g.114629942_114629943insTAA	TOPMed
FOXP2	O15409	p.del179TerGlu	rs1554434732	stop gained	-	NC_000007.14:g.114629942_114629943insTAAGAG	TOPMed
FOXP2	O15409	p.Gln179Glu	rs1003245699	missense variant	-	NC_000007.14:g.114629943C>G	TOPMed
FOXP2	O15409	p.Gln179Ter	rs1003245699	stop gained	-	NC_000007.14:g.114629943C>T	TOPMed
FOXP2	O15409	p.Gln182Pro	rs1359238420	missense variant	-	NC_000007.14:g.114629953A>C	TOPMed
FOXP2	O15409	p.Gln182His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114629954G>T	NCI-TCGA
FOXP2	O15409	p.Gln183Arg	rs771840840	missense variant	-	NC_000007.14:g.114629956A>G	ExAC,gnomAD
FOXP2	O15409	p.Gln185Leu	rs1029480822	missense variant	-	NC_000007.14:g.114629962A>T	TOPMed,gnomAD
FOXP2	O15409	p.Gln186Ter	rs1265049777	stop gained	-	NC_000007.14:g.114629964C>T	TOPMed
FOXP2	O15409	p.Gly194Ala	rs899776651	missense variant	-	NC_000007.14:g.114629989G>C	TOPMed
FOXP2	O15409	p.Lys195Met	rs1221297848	missense variant	-	NC_000007.14:g.114629992A>T	TOPMed
FOXP2	O15409	p.Lys195Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114629992A>G	NCI-TCGA
FOXP2	O15409	p.Gln196Glu	rs1347299046	missense variant	-	NC_000007.14:g.114629994C>G	gnomAD
FOXP2	O15409	p.Ala197Val	rs769729974	missense variant	-	NC_000007.14:g.114629998C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala197Gly	rs769729974	missense variant	-	NC_000007.14:g.114629998C>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala197Glu	rs769729974	missense variant	-	NC_000007.14:g.114629998C>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln200His	rs1281884581	missense variant	-	NC_000007.14:g.114631530G>C	gnomAD
FOXP2	O15409	p.Gln209Leu	rs1366123623	missense variant	-	NC_000007.14:g.114631556A>T	TOPMed,gnomAD
FOXP2	O15409	p.Ala211Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114631561G>C	NCI-TCGA
FOXP2	O15409	p.Gln213His	rs1339945518	missense variant	-	NC_000007.14:g.114631569G>T	TOPMed
FOXP2	O15409	p.Gln218Arg	rs1158252110	missense variant	-	NC_000007.14:g.114631583A>G	gnomAD
FOXP2	O15409	p.Gln218Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114631583A>C	NCI-TCGA
FOXP2	O15409	p.Gln220Arg	rs1378829324	missense variant	-	NC_000007.14:g.114631589A>G	gnomAD
FOXP2	O15409	p.Gln220His	rs749254802	missense variant	-	NC_000007.14:g.114631590G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu222Val	rs768728605	missense variant	-	NC_000007.14:g.114631594C>G	ExAC,gnomAD
FOXP2	O15409	p.Met224Ile	rs774304280	missense variant	-	NC_000007.14:g.114631602G>C	ExAC,gnomAD
FOXP2	O15409	p.Gln225His	rs143019903	missense variant	-	NC_000007.14:g.114631605A>T	ESP,ExAC,TOPMed
FOXP2	O15409	p.Gln225Glu	rs1402486267	missense variant	-	NC_000007.14:g.114631603C>G	gnomAD
FOXP2	O15409	p.Gln226Arg	rs976182523	missense variant	-	NC_000007.14:g.114631607A>G	TOPMed
FOXP2	O15409	p.Leu227Ter	RCV000153269	frameshift	-	NC_000007.14:g.114631608dup	ClinVar
FOXP2	O15409	p.Gln231His	rs755829229	missense variant	-	NC_000007.14:g.114631623G>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser235Asn	COSM281220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114631634G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Leu236Phe	rs1331241429	missense variant	-	NC_000007.14:g.114631636C>T	TOPMed
FOXP2	O15409	p.Gln237Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.114631639C>T	NCI-TCGA
FOXP2	O15409	p.Arg238Ser	rs761174159	missense variant	-	NC_000007.14:g.114631642C>A	ExAC,gnomAD
FOXP2	O15409	p.Arg238His	rs766965457	missense variant	-	NC_000007.14:g.114631643G>A	ExAC,gnomAD
FOXP2	O15409	p.Arg238Cys	rs761174159	missense variant	-	NC_000007.14:g.114631642C>T	ExAC,gnomAD
FOXP2	O15409	p.Gln239Arg	rs754361203	missense variant	-	NC_000007.14:g.114631646A>G	ExAC,gnomAD
FOXP2	O15409	p.Gln239Ter	RCV000760797	nonsense	-	NC_000007.14:g.114631645C>T	ClinVar
FOXP2	O15409	p.Leu241Val	rs148201242	missense variant	-	NC_000007.14:g.114631651C>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu241Ile	rs148201242	missense variant	-	NC_000007.14:g.114631651C>A	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Pro245Leu	rs1438512681	missense variant	-	NC_000007.14:g.114631664C>T	gnomAD
FOXP2	O15409	p.Gly247Arg	rs767652094	missense variant	-	NC_000007.14:g.114631669G>C	TOPMed,gnomAD
FOXP2	O15409	p.Gly247Ser	rs767652094	missense variant	-	NC_000007.14:g.114631669G>A	TOPMed,gnomAD
FOXP2	O15409	p.Ala249Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114631676C>T	NCI-TCGA
FOXP2	O15409	p.Ala250Thr	rs780869585	missense variant	-	NC_000007.14:g.114631678G>A	ExAC,gnomAD
FOXP2	O15409	p.Pro252Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114631685C>T	NCI-TCGA
FOXP2	O15409	p.Ser255Trp	rs1054712701	missense variant	-	NC_000007.14:g.114631694C>G	TOPMed,gnomAD
FOXP2	O15409	p.Ser255Leu	rs1054712701	missense variant	-	NC_000007.14:g.114631694C>T	TOPMed,gnomAD
FOXP2	O15409	p.Ser255Pro	rs531504911	missense variant	-	NC_000007.14:g.114631693T>C	1000Genomes,ExAC,gnomAD
FOXP2	O15409	p.Ser262Asn	rs1383735594	missense variant	-	NC_000007.14:g.114642419G>A	gnomAD
FOXP2	O15409	p.Ala264Val	rs750028450	missense variant	-	NC_000007.14:g.114642425C>T	ExAC,gnomAD
FOXP2	O15409	p.Glu265Val	rs1438024604	missense variant	-	NC_000007.14:g.114642428A>T	TOPMed
FOXP2	O15409	p.Glu265Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114642429G>C	NCI-TCGA
FOXP2	O15409	p.Leu269Phe	rs1276375707	missense variant	-	NC_000007.14:g.114642441A>T	gnomAD
FOXP2	O15409	p.Trp270Arg	rs779754644	missense variant	-	NC_000007.14:g.114642442T>C	ExAC,gnomAD
FOXP2	O15409	p.Trp270Cys	rs1224336230	missense variant	-	NC_000007.14:g.114642444G>T	gnomAD
FOXP2	O15409	p.Glu272Asp	rs753640569	missense variant	-	NC_000007.14:g.114642450A>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu272Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.114642448G>T	NCI-TCGA
FOXP2	O15409	p.Gly275Glu	rs754927033	missense variant	-	NC_000007.14:g.114642458G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gly275Ala	COSM6175991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642458G>C	NCI-TCGA Cosmic
FOXP2	O15409	p.Val276Leu	rs1207268336	missense variant	-	NC_000007.14:g.114642460G>C	gnomAD
FOXP2	O15409	p.Met279Val	rs778767619	missense variant	-	NC_000007.14:g.114642469A>G	ExAC,gnomAD
FOXP2	O15409	p.Met279Ile	COSM744080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642471G>C	NCI-TCGA Cosmic
FOXP2	O15409	p.Asp281Asn	rs748231233	missense variant	-	NC_000007.14:g.114642475G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asp281Gly	COSM1084258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642476A>G	NCI-TCGA Cosmic
FOXP2	O15409	p.Gly283Val	rs985325734	missense variant	-	NC_000007.14:g.114642482G>T	TOPMed
FOXP2	O15409	p.Gly283Ser	rs1192209213	missense variant	-	NC_000007.14:g.114642481G>A	gnomAD
FOXP2	O15409	p.Gly283Asp	COSM3256623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642482G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Ile284Phe	rs772009456	missense variant	-	NC_000007.14:g.114642484A>T	ExAC,gnomAD
FOXP2	O15409	p.Ile284Val	rs772009456	missense variant	-	NC_000007.14:g.114642484A>G	ExAC,gnomAD
FOXP2	O15409	p.Lys285Gln	rs778026488	missense variant	-	NC_000007.14:g.114642487A>C	ExAC,gnomAD
FOXP2	O15409	p.Leu289Pro	rs1175210435	missense variant	-	NC_000007.14:g.114642500T>C	gnomAD
FOXP2	O15409	p.Asp290Asn	rs940890058	missense variant	-	NC_000007.14:g.114642502G>A	TOPMed,gnomAD
FOXP2	O15409	p.Asp290Glu	COSM1330159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642504C>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Leu291Pro	rs1375575897	missense variant	-	NC_000007.14:g.114642506T>C	gnomAD
FOXP2	O15409	p.Thr292Ser	rs780676420	missense variant	-	NC_000007.14:g.114642508A>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr292Ile	rs777132475	missense variant	-	NC_000007.14:g.114642509C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr293Ser	rs1384054598	missense variant	-	NC_000007.14:g.114642512C>G	gnomAD
FOXP2	O15409	p.Thr293Ile	COSM484651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642512C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Asn294Asp	rs770301569	missense variant	-	NC_000007.14:g.114642514A>G	ExAC,gnomAD
FOXP2	O15409	p.Asn294Lys	rs937208031	missense variant	-	NC_000007.14:g.114642516C>A	TOPMed,gnomAD
FOXP2	O15409	p.Asn295Lys	rs763537390	missense variant	-	NC_000007.14:g.114642519T>G	ExAC,gnomAD
FOXP2	O15409	p.Asn295Ser	rs775819986	missense variant	-	NC_000007.14:g.114642518A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser296Thr	rs766956626	missense variant	-	NC_000007.14:g.114642520T>A	ExAC,gnomAD
FOXP2	O15409	p.Ser296Phe	rs866570059	missense variant	-	NC_000007.14:g.114642521C>T	-
FOXP2	O15409	p.Ser297Cys	rs150907165	missense variant	-	NC_000007.14:g.114642524C>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser298Leu	rs753643915	missense variant	-	NC_000007.14:g.114642527C>T	ExAC,TOPMed
FOXP2	O15409	p.Ser298Ala	rs138374374	missense variant	-	NC_000007.14:g.114642526T>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr300Ile	rs1277744858	missense variant	-	NC_000007.14:g.114642533C>T	TOPMed
FOXP2	O15409	p.Thr300Ala	rs752528443	missense variant	-	NC_000007.14:g.114642532A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser302Cys	rs1050432134	missense variant	-	NC_000007.14:g.114642539C>G	TOPMed
FOXP2	O15409	p.Thr304Ile	rs555128980	missense variant	-	NC_000007.14:g.114642545C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr304Pro	rs758423327	missense variant	-	NC_000007.14:g.114642544A>C	ExAC
FOXP2	O15409	p.Ala307Ser	rs747155760	missense variant	-	NC_000007.14:g.114642553G>T	ExAC,gnomAD
FOXP2	O15409	p.Ala307Val	rs771268489	missense variant	-	NC_000007.14:g.114642554C>T	ExAC,gnomAD
FOXP2	O15409	p.Ala307Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114642554C>A	NCI-TCGA
FOXP2	O15409	p.Ser308Leu	rs889178260	missense variant	-	NC_000007.14:g.114642557C>T	TOPMed
FOXP2	O15409	p.Pro309Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114642560C>A	NCI-TCGA
FOXP2	O15409	p.Pro310Ser	rs1227082843	missense variant	-	NC_000007.14:g.114642562C>T	TOPMed
FOXP2	O15409	p.Ile311Val	rs1362984312	missense variant	-	NC_000007.14:g.114642565A>G	gnomAD
FOXP2	O15409	p.His313Tyr	rs770001809	missense variant	-	NC_000007.14:g.114642571C>T	ExAC,gnomAD
FOXP2	O15409	p.His313Arg	rs1366122974	missense variant	-	NC_000007.14:g.114642572A>G	gnomAD
FOXP2	O15409	p.His313LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.114642572A>-	NCI-TCGA
FOXP2	O15409	p.Ser315Thr	rs1359401489	missense variant	-	NC_000007.14:g.114642577T>A	TOPMed
FOXP2	O15409	p.Ser315Phe	rs1425319727	missense variant	-	NC_000007.14:g.114642578C>T	TOPMed,gnomAD
FOXP2	O15409	p.Ile316Val	rs563897082	missense variant	-	NC_000007.14:g.114642580A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ile316Thr	rs763302537	missense variant	-	NC_000007.14:g.114642581T>C	ExAC,gnomAD
FOXP2	O15409	p.Val317Leu	rs769218331	missense variant	-	NC_000007.14:g.114642583G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Val317Ala	rs1308003272	missense variant	-	NC_000007.14:g.114642584T>C	gnomAD
FOXP2	O15409	p.Gly319Glu	rs772694863	missense variant	-	NC_000007.14:g.114642590G>A	ExAC,gnomAD
FOXP2	O15409	p.Gln320Lys	COSM6108499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642592C>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Ser321Tyr	rs944127085	missense variant	-	NC_000007.14:g.114642596C>A	TOPMed
FOXP2	O15409	p.Ser321Ala	rs375163729	missense variant	-	NC_000007.14:g.114642595T>G	ESP,TOPMed,gnomAD
FOXP2	O15409	p.Ser322Ala	rs1039811463	missense variant	-	NC_000007.14:g.114642598T>G	TOPMed
FOXP2	O15409	p.Val323Ile	rs760226272	missense variant	-	NC_000007.14:g.114642601G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu324Ile	COSM1084260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114642604C>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Ser325Arg	rs753394697	missense variant	-	NC_000007.14:g.114642609T>G	ExAC,gnomAD
FOXP2	O15409	p.Ala326Ser	rs1177378764	missense variant	-	NC_000007.14:g.114642610G>T	gnomAD
FOXP2	O15409	p.Arg328Gln	rs759256511	missense variant	-	NC_000007.14:g.114642617G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Arg328Ter	rs121908378	stop gained	Speech-language disorder 1 (spch1)	NC_000007.14:g.114642616C>T	-
FOXP2	O15409	p.Arg328Ter	RCV000005372	nonsense	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114642616C>T	ClinVar
FOXP2	O15409	p.Arg328Pro	rs759256511	missense variant	-	NC_000007.14:g.114642617G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Arg328Gln	RCV000179945	missense variant	-	NC_000007.14:g.114642617G>A	ClinVar
FOXP2	O15409	p.Asp329Glu	rs1483420106	missense variant	-	NC_000007.14:g.114642621C>G	TOPMed
FOXP2	O15409	p.Asp329Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114642621C>A	NCI-TCGA
FOXP2	O15409	p.Ser330Cys	rs886061916	missense variant	-	NC_000007.14:g.114642622A>T	-
FOXP2	O15409	p.Ser330Cys	RCV000304764	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114642622A>T	ClinVar
FOXP2	O15409	p.Ser331Trp	rs1464232313	missense variant	-	NC_000007.14:g.114644687C>G	TOPMed,gnomAD
FOXP2	O15409	p.Ser331Leu	COSM5871621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114644687C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.His333Leu	rs372704196	missense variant	-	NC_000007.14:g.114644693A>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.His333Arg	rs372704196	missense variant	-	NC_000007.14:g.114644693A>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu334Lys	rs1447805795	missense variant	-	NC_000007.14:g.114644695G>A	gnomAD
FOXP2	O15409	p.Glu334Val	rs757270050	missense variant	-	NC_000007.14:g.114644696A>T	ExAC,gnomAD
FOXP2	O15409	p.Thr336Ser	rs750582959	missense variant	-	NC_000007.14:g.114644701A>T	ExAC,gnomAD
FOXP2	O15409	p.Thr336Ile	rs945804979	missense variant	-	NC_000007.14:g.114644702C>T	TOPMed
FOXP2	O15409	p.Gly337Glu	rs1315572414	missense variant	-	NC_000007.14:g.114644705G>A	gnomAD
FOXP2	O15409	p.Ala338Thr	rs767291302	missense variant	-	NC_000007.14:g.114644707G>A	TOPMed
FOXP2	O15409	p.Ala338Ser	rs767291302	missense variant	-	NC_000007.14:g.114644707G>T	TOPMed
FOXP2	O15409	p.Ala338Val	COSM3877401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114644708C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.His340Tyr	rs1330529378	missense variant	-	NC_000007.14:g.114644713C>T	TOPMed,gnomAD
FOXP2	O15409	p.Thr341Ala	rs780371962	missense variant	-	NC_000007.14:g.114644716A>G	ExAC,gnomAD
FOXP2	O15409	p.Leu342Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114644719C>T	NCI-TCGA
FOXP2	O15409	p.Tyr343Cys	rs755297474	missense variant	-	NC_000007.14:g.114644723A>G	ExAC,gnomAD
FOXP2	O15409	p.His345Arg	rs1295112601	missense variant	-	NC_000007.14:g.114644729A>G	TOPMed
FOXP2	O15409	p.Gly346Glu	COSM1084262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114644732G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Trp350Ter	rs1349250538	stop gained	-	NC_000007.14:g.114644745G>A	TOPMed
FOXP2	O15409	p.Gly352Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114644749G>A	NCI-TCGA
FOXP2	O15409	p.Gly352Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114644750G>A	NCI-TCGA
FOXP2	O15409	p.Ser355Arg	rs1374396490	missense variant	-	NC_000007.14:g.114644760C>G	gnomAD
FOXP2	O15409	p.Phe360Leu	rs748597582	missense variant	-	NC_000007.14:g.114644775T>G	ExAC,gnomAD
FOXP2	O15409	p.Lys365Met	rs1476893897	missense variant	-	NC_000007.14:g.114644789A>T	gnomAD
FOXP2	O15409	p.Ala372Ser	rs778396336	missense variant	-	NC_000007.14:g.114652222G>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala372Thr	rs778396336	missense variant	-	NC_000007.14:g.114652222G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asp375Gly	rs745342916	missense variant	-	NC_000007.14:g.114652232A>G	ExAC,gnomAD
FOXP2	O15409	p.Arg376Leu	rs1219589831	missense variant	-	NC_000007.14:g.114652235G>T	gnomAD
FOXP2	O15409	p.Arg376Gln	COSM3431129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114652235G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Ser377Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114652238G>A	NCI-TCGA
FOXP2	O15409	p.Thr378Ala	rs769296657	missense variant	-	NC_000007.14:g.114652240A>G	ExAC
FOXP2	O15409	p.Ala379Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114652243G>T	NCI-TCGA
FOXP2	O15409	p.Val387Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114652268T>C	NCI-TCGA
FOXP2	O15409	p.Gln390Ter	RCV000234941	frameshift	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114652276_114652277del	ClinVar
FOXP2	O15409	p.Glu392Gly	rs748878832	missense variant	-	NC_000007.14:g.114652283A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu398Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114653936A>T	NCI-TCGA
FOXP2	O15409	p.Arg399Cys	rs778748061	missense variant	-	NC_000007.14:g.114653938C>T	ExAC,gnomAD
FOXP2	O15409	p.Arg399Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114653938C>A	NCI-TCGA
FOXP2	O15409	p.Glu400Lys	rs1276471970	missense variant	-	NC_000007.14:g.114653941G>A	gnomAD
FOXP2	O15409	p.Arg401Cys	rs762564041	missense variant	-	NC_000007.14:g.114653944C>T	gnomAD
FOXP2	O15409	p.Met406Lys	rs1343377230	missense variant	-	NC_000007.14:g.114653960T>A	gnomAD
FOXP2	O15409	p.Thr407Asn	rs541820585	missense variant	-	NC_000007.14:g.114653963C>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.His408Asp	rs760596736	missense variant	-	NC_000007.14:g.114653965C>G	ExAC,gnomAD
FOXP2	O15409	p.His408Gln	rs376460299	missense variant	-	NC_000007.14:g.114653967C>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.His408Gln	RCV000081636	missense variant	-	NC_000007.14:g.114653967C>G	ClinVar
FOXP2	O15409	p.Met411Leu	rs776679391	missense variant	-	NC_000007.14:g.114653974A>C	ExAC,gnomAD
FOXP2	O15409	p.Met411Val	rs776679391	missense variant	-	NC_000007.14:g.114653974A>G	ExAC,gnomAD
FOXP2	O15409	p.Arg412Gln	rs1270486405	missense variant	-	NC_000007.14:g.114653978G>A	gnomAD
FOXP2	O15409	p.Arg412Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.114653977C>T	NCI-TCGA
FOXP2	O15409	p.Glu415Lys	rs1433376279	missense variant	-	NC_000007.14:g.114653986G>A	gnomAD
FOXP2	O15409	p.Pro416Arg	rs1290398957	missense variant	-	NC_000007.14:g.114653990C>G	gnomAD
FOXP2	O15409	p.Pro416Thr	rs369313543	missense variant	-	NC_000007.14:g.114653989C>A	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser419Pro	rs775743904	missense variant	-	NC_000007.14:g.114653998T>C	ExAC,gnomAD
FOXP2	O15409	p.Ser419Ala	rs775743904	missense variant	-	NC_000007.14:g.114653998T>G	ExAC,gnomAD
FOXP2	O15409	p.Lys421Asn	COSM4420675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114654006A>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Pro422Ser	rs751931499	missense variant	-	NC_000007.14:g.114654007C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Pro422Thr	rs751931499	missense variant	-	NC_000007.14:g.114654007C>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn424Lys	rs1302127838	missense variant	-	NC_000007.14:g.114658071T>G	TOPMed
FOXP2	O15409	p.Leu425Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114658072C>A	NCI-TCGA
FOXP2	O15409	p.Val426Leu	rs761262072	missense variant	-	NC_000007.14:g.114658075G>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser427Cys	rs1363020478	missense variant	-	NC_000007.14:g.114658079C>G	gnomAD
FOXP2	O15409	p.Ser428Ile	rs727503937	missense variant	-	NC_000007.14:g.114658082G>T	ExAC,gnomAD
FOXP2	O15409	p.Ser428Cys	rs895017794	missense variant	-	NC_000007.14:g.114658081A>T	TOPMed,gnomAD
FOXP2	O15409	p.Ser428Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114658082G>C	NCI-TCGA
FOXP2	O15409	p.Ser428Gly	rs895017794	missense variant	-	NC_000007.14:g.114658081A>G	TOPMed,gnomAD
FOXP2	O15409	p.Ser428Ile	RCV000153271	missense variant	-	NC_000007.14:g.114658082G>T	ClinVar
FOXP2	O15409	p.Thr430Asn	rs149805525	missense variant	-	NC_000007.14:g.114658088C>A	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr430Ile	rs149805525	missense variant	-	NC_000007.14:g.114658088C>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Met431Thr	rs1275101579	missense variant	-	NC_000007.14:g.114658091T>C	TOPMed,gnomAD
FOXP2	O15409	p.Met431Leu	rs762414429	missense variant	-	NC_000007.14:g.114658090A>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Met431Val	rs762414429	missense variant	-	NC_000007.14:g.114658090A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser432Leu	rs1366555549	missense variant	-	NC_000007.14:g.114658094C>T	gnomAD
FOXP2	O15409	p.Ser432Trp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114658094C>G	NCI-TCGA
FOXP2	O15409	p.Thr438Ala	rs763694805	missense variant	-	NC_000007.14:g.114658111A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr438Ile	rs751166815	missense variant	-	NC_000007.14:g.114658112C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr438Pro	rs763694805	missense variant	-	NC_000007.14:g.114658111A>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser439Phe	rs1215855483	missense variant	-	NC_000007.14:g.114658115C>T	gnomAD
FOXP2	O15409	p.Pro440Ser	rs1285369301	missense variant	-	NC_000007.14:g.114658117C>T	gnomAD
FOXP2	O15409	p.Gln441His	rs1224001486	missense variant	-	NC_000007.14:g.114658122G>C	gnomAD
FOXP2	O15409	p.Pro444His	COSM1084264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114658130C>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Gln445Arg	rs372477540	missense variant	-	NC_000007.14:g.114658133A>G	ESP,ExAC,gnomAD
FOXP2	O15409	p.Thr446Ser	rs1190852721	missense variant	-	NC_000007.14:g.114658135A>T	TOPMed
FOXP2	O15409	p.Thr446Asn	rs756019068	missense variant	-	NC_000007.14:g.114658136C>A	ExAC,gnomAD
FOXP2	O15409	p.Thr448Ile	RCV000719671	missense variant	History of neurodevelopmental disorder	NC_000007.14:g.114658142C>T	ClinVar
FOXP2	O15409	p.Thr451Met	rs199776572	missense variant	-	NC_000007.14:g.114658151C>T	1000Genomes,TOPMed,gnomAD
FOXP2	O15409	p.Ala452Val	rs189863975	missense variant	-	NC_000007.14:g.114658154C>T	1000Genomes,ExAC,gnomAD
FOXP2	O15409	p.Pro453Ser	rs749278394	missense variant	-	NC_000007.14:g.114658156C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ile457Leu	rs1323738523	missense variant	-	NC_000007.14:g.114658168A>C	gnomAD
FOXP2	O15409	p.Thr458Ter	RCV000599291	frameshift	-	NC_000007.14:g.114658170del	ClinVar
FOXP2	O15409	p.Gln459Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.114658174C>T	NCI-TCGA
FOXP2	O15409	p.Gln459Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114658175A>T	NCI-TCGA
FOXP2	O15409	p.Ser462Ter	rs748312627	stop gained	-	NC_000007.14:g.114658184C>A	ExAC
FOXP2	O15409	p.Ile464Leu	rs1256659385	missense variant	-	NC_000007.14:g.114658189A>C	TOPMed
FOXP2	O15409	p.Ile464Thr	rs773700650	missense variant	-	NC_000007.14:g.114658190T>C	ExAC,gnomAD
FOXP2	O15409	p.Ile464Val	rs1256659385	missense variant	-	NC_000007.14:g.114658189A>G	TOPMed
FOXP2	O15409	p.Thr465Pro	rs761170451	missense variant	-	NC_000007.14:g.114658192A>C	ExAC,gnomAD
FOXP2	O15409	p.Pro466Leu	rs771438075	missense variant	-	NC_000007.14:g.114658196C>T	ExAC,gnomAD
FOXP2	O15409	p.Ala467Thr	rs776966569	missense variant	-	NC_000007.14:g.114658198G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser468Asn	rs1348548231	missense variant	-	NC_000007.14:g.114658202G>A	gnomAD
FOXP2	O15409	p.Val469Met	rs1230115579	missense variant	-	NC_000007.14:g.114658204G>A	gnomAD
FOXP2	O15409	p.Val469Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114658205T>C	NCI-TCGA
FOXP2	O15409	p.Pro470Ser	rs1290752827	missense variant	-	NC_000007.14:g.114658207C>T	gnomAD
FOXP2	O15409	p.Asn471Ser	rs1345935751	missense variant	-	NC_000007.14:g.114658211A>G	TOPMed
FOXP2	O15409	p.Asn471Lys	rs1277076789	missense variant	-	NC_000007.14:g.114658212T>A	TOPMed
FOXP2	O15409	p.Val472Ala	rs760114813	missense variant	-	NC_000007.14:g.114658214T>C	ExAC,gnomAD
FOXP2	O15409	p.Val472Gly	rs760114813	missense variant	-	NC_000007.14:g.114658214T>G	ExAC,gnomAD
FOXP2	O15409	p.Ala474Thr	rs763457983	missense variant	-	NC_000007.14:g.114658219G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ile475Thr	rs1458512225	missense variant	-	NC_000007.14:g.114658223T>C	gnomAD
FOXP2	O15409	p.Ile475Val	rs1240394269	missense variant	-	NC_000007.14:g.114658222A>G	gnomAD
FOXP2	O15409	p.Arg476Ter	RCV000754787	nonsense	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114658225C>T	ClinVar
FOXP2	O15409	p.Arg476Ter	rs1178491246	stop gained	-	NC_000007.14:g.114658225C>T	gnomAD
FOXP2	O15409	p.Arg476Gln	COSM1084268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114658226G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Arg478Ter	rs1474090446	stop gained	-	NC_000007.14:g.114658231C>T	gnomAD
FOXP2	O15409	p.Asp481Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114658242C>A	NCI-TCGA
FOXP2	O15409	p.Asp481Tyr	COSM1330158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114658240G>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Asp481Asn	rs755825043	missense variant	-	NC_000007.14:g.114658240G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Lys482Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114658243A>C	NCI-TCGA
FOXP2	O15409	p.Tyr483His	rs1380696549	missense variant	-	NC_000007.14:g.114658246T>C	gnomAD
FOXP2	O15409	p.Tyr483Cys	rs779921362	missense variant	-	NC_000007.14:g.114658247A>G	ExAC,gnomAD
FOXP2	O15409	p.Pro486His	rs1445779721	missense variant	-	NC_000007.14:g.114658256C>A	gnomAD
FOXP2	O15409	p.Pro486Ser	rs753658194	missense variant	-	NC_000007.14:g.114658255C>T	ExAC,gnomAD
FOXP2	O15409	p.Met487Val	rs142199218	missense variant	-	NC_000007.14:g.114658258A>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser488Ala	rs201320940	missense variant	-	NC_000007.14:g.114658261T>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser488Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114658261T>A	NCI-TCGA
FOXP2	O15409	p.Ser488Ala	RCV000321527	missense variant	-	NC_000007.14:g.114658261T>G	ClinVar
FOXP2	O15409	p.Ala492Thr	rs1280238984	missense variant	-	NC_000007.14:g.114659361G>A	gnomAD
FOXP2	O15409	p.Ala492Val	rs766020871	missense variant	-	NC_000007.14:g.114659362C>T	ExAC,gnomAD
FOXP2	O15409	p.Pro493Thr	rs753732678	missense variant	-	NC_000007.14:g.114659364C>A	ExAC,gnomAD
FOXP2	O15409	p.Asn494Ser	rs1300216902	missense variant	-	NC_000007.14:g.114659368A>G	TOPMed
FOXP2	O15409	p.Asn494Lys	COSM3632135	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659369C>G	NCI-TCGA Cosmic
FOXP2	O15409	p.Phe497Leu	COSM1084270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659378T>G	NCI-TCGA Cosmic
FOXP2	O15409	p.Lys499Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114659382A>G	NCI-TCGA
FOXP2	O15409	p.Pro505Leu	rs758513311	missense variant	-	NC_000007.14:g.114659401C>T	ExAC,gnomAD
FOXP2	O15409	p.Pro506Leu	COSM3632137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659404C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Phe507Leu	rs1372909550	missense variant	-	NC_000007.14:g.114659406T>C	TOPMed
FOXP2	O15409	p.Tyr509Asp	COSM3632139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659412T>G	NCI-TCGA Cosmic
FOXP2	O15409	p.Ile513Leu	rs1218149104	missense variant	-	NC_000007.14:g.114659424A>C	gnomAD
FOXP2	O15409	p.Arg514Ser	COSM3784048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659429G>C	NCI-TCGA Cosmic
FOXP2	O15409	p.Ser521Phe	rs1308658577	missense variant	-	NC_000007.14:g.114659588C>T	TOPMed
FOXP2	O15409	p.Arg523Lys	COSM744078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659594G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Leu527Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114659605C>T	NCI-TCGA
FOXP2	O15409	p.Glu529Ter	COSM1084272	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114659611G>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Tyr531His	RCV000234952	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114659617T>C	ClinVar
FOXP2	O15409	p.Tyr531His	rs879253772	missense variant	-	NC_000007.14:g.114659617T>C	-
FOXP2	O15409	p.Ser532Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114659620A>T	NCI-TCGA
FOXP2	O15409	p.Thr535Pro	COSM3877408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659629A>C	NCI-TCGA Cosmic
FOXP2	O15409	p.Arg536Gly	rs765157455	missense variant	-	NC_000007.14:g.114659632C>G	ExAC,gnomAD
FOXP2	O15409	p.Arg536Trp	rs765157455	missense variant	-	NC_000007.14:g.114659632C>T	ExAC,gnomAD
FOXP2	O15409	p.Arg536Gln	rs758427088	missense variant	-	NC_000007.14:g.114659633G>A	ExAC,gnomAD
FOXP2	O15409	p.Arg536Leu	COSM3256656	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659633G>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Thr537Ala	COSM3256657	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659635A>G	NCI-TCGA Cosmic
FOXP2	O15409	p.Ala539Ser	rs751732210	missense variant	-	NC_000007.14:g.114659641G>T	ExAC,gnomAD
FOXP2	O15409	p.Phe541Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114659648T>A	NCI-TCGA
FOXP2	O15409	p.Arg543His	rs1158865993	missense variant	-	NC_000007.14:g.114659654G>A	TOPMed
FOXP2	O15409	p.Arg543Cys	COSM3778043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659653C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Asn544Ile	COSM744077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114659657A>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Ala545Val	rs1463421426	missense variant	-	NC_000007.14:g.114659660C>T	TOPMed
FOXP2	O15409	p.Thr547Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114659666C>A	NCI-TCGA
FOXP2	O15409	p.Trp548Ter	COSM3877411	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114659670G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Lys549Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114659673G>T	NCI-TCGA
FOXP2	O15409	p.Arg553Cys	rs566961630	missense variant	-	NC_000007.14:g.114662074C>T	1000Genomes,ExAC
FOXP2	O15409	p.Arg553His	rs121908377	missense variant	Speech-language disorder 1 (spch1)	NC_000007.14:g.114662075G>A	-
FOXP2	O15409	p.Arg553His	rs121908377	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114662075G>A	UniProt,dbSNP
FOXP2	O15409	p.Arg553His	VAR_012278	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114662075G>A	UniProt
FOXP2	O15409	p.Arg553His	RCV000005371	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114662075G>A	ClinVar
FOXP2	O15409	p.Asn555Ser	COSM744076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662081A>G	NCI-TCGA Cosmic
FOXP2	O15409	p.Leu556Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114662084T>G	NCI-TCGA
FOXP2	O15409	p.Ser557Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114662086A>T	NCI-TCGA
FOXP2	O15409	p.His559Pro	COSM1330157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662093A>C	NCI-TCGA Cosmic
FOXP2	O15409	p.Cys561Ter	COSM78950	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114662100T>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Val563Ala	rs1270889010	missense variant	-	NC_000007.14:g.114662105T>C	gnomAD
FOXP2	O15409	p.Arg564Ter	COSM4472192	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114662107C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Arg564Gln	COSM3431133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662108G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Val565Ile	rs769641584	missense variant	-	NC_000007.14:g.114662110G>A	ExAC,gnomAD
FOXP2	O15409	p.Asn567Ile	rs1250616703	missense variant	-	NC_000007.14:g.114662117A>T	gnomAD
FOXP2	O15409	p.Gly570Val	rs1183578823	missense variant	-	NC_000007.14:g.114662126G>T	gnomAD
FOXP2	O15409	p.Val572Ile	COSM3995292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662131G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Trp573Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114662135G>T	NCI-TCGA
FOXP2	O15409	p.Trp573Ter	COSM6108494	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114662135G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Val575Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114662140G>T	NCI-TCGA
FOXP2	O15409	p.Val575Ter	RCV000478073	frameshift	-	NC_000007.14:g.114662140del	ClinVar
FOXP2	O15409	p.Glu577Lys	COSM3922530	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662146G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Gln581Arg	rs774292922	missense variant	-	NC_000007.14:g.114662159A>G	ExAC
FOXP2	O15409	p.Lys587Asn	COSM6175989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114662178G>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Thr589Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114662183C>T	NCI-TCGA
FOXP2	O15409	p.Ser591Arg	COSM3877413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114663451A>C	NCI-TCGA Cosmic
FOXP2	O15409	p.Thr593Ala	rs1400180568	missense variant	-	NC_000007.14:g.114663457A>G	TOPMed,gnomAD
FOXP2	O15409	p.Leu594Val	rs1269264458	missense variant	-	NC_000007.14:g.114663460T>G	gnomAD
FOXP2	O15409	p.Leu594PheIle	RCV000735352	missense variant	Global developmental delay (DD)	NC_000007.14:g.114663462_114663463delinsTA	ClinVar
FOXP2	O15409	p.Asn597His	rs766476648	missense variant	-	NC_000007.14:g.114663469A>C	ExAC,gnomAD
FOXP2	O15409	p.Asn597LysPheSerTerUnkUnk	COSM1447410	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114663464_114663465insA	NCI-TCGA Cosmic
FOXP2	O15409	p.Asn597His	RCV000234955	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114663469A>C	ClinVar
FOXP2	O15409	p.Ile598Met	rs565909014	missense variant	-	NC_000007.14:g.114663474A>G	1000Genomes,ExAC,gnomAD
FOXP2	O15409	p.Pro599Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114663475C>T	NCI-TCGA
FOXP2	O15409	p.Thr600Ser	rs1347015690	missense variant	-	NC_000007.14:g.114663479C>G	gnomAD
FOXP2	O15409	p.Tyr604Cys	rs377420314	missense variant	-	NC_000007.14:g.114663491A>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Tyr604Asn	rs1394757420	missense variant	-	NC_000007.14:g.114663490T>A	TOPMed
FOXP2	O15409	p.Ala606Thr	COSM3411499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114663496G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Gln613Lys	rs765574065	missense variant	-	NC_000007.14:g.114663517C>A	ExAC,gnomAD
FOXP2	O15409	p.Ala614Gly	rs765980369	missense variant	-	NC_000007.14:g.114664274C>G	ExAC,gnomAD
FOXP2	O15409	p.Ala615Thr	rs182138317	missense variant	-	NC_000007.14:g.114664276G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala615Ser	rs182138317	missense variant	-	NC_000007.14:g.114664276G>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala615Thr	RCV000718769	missense variant	History of neurodevelopmental disorder	NC_000007.14:g.114664276G>A	ClinVar
FOXP2	O15409	p.Ala615Thr	RCV000081638	missense variant	-	NC_000007.14:g.114664276G>A	ClinVar
FOXP2	O15409	p.Ala617Val	rs915879314	missense variant	-	NC_000007.14:g.114664283C>T	TOPMed
FOXP2	O15409	p.Glu618Gln	COSM4359134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114664285G>C	NCI-TCGA Cosmic
FOXP2	O15409	p.Glu618Ter	COSM421634	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.114664285G>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Ser619Asn	rs757373725	missense variant	-	NC_000007.14:g.114664289G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser620Asn	rs752426529	missense variant	-	NC_000007.14:g.114664292G>A	ExAC,gnomAD
FOXP2	O15409	p.Pro622Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114664297C>G	NCI-TCGA
FOXP2	O15409	p.Pro627Leu	rs758080021	missense variant	-	NC_000007.14:g.114664313C>T	ExAC,gnomAD
FOXP2	O15409	p.Pro627Ser	rs779157210	missense variant	-	NC_000007.14:g.114664312C>T	TOPMed,gnomAD
FOXP2	O15409	p.Gly628Val	rs777560011	missense variant	-	NC_000007.14:g.114664316G>T	ExAC,gnomAD
FOXP2	O15409	p.Ile630Met	rs770923990	missense variant	-	NC_000007.14:g.114664323A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ile630Val	rs746884663	missense variant	-	NC_000007.14:g.114664321A>G	ExAC,gnomAD
FOXP2	O15409	p.Ile630Thr	rs952693445	missense variant	-	NC_000007.14:g.114664322T>C	TOPMed,gnomAD
FOXP2	O15409	p.Asn631His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114664324A>C	NCI-TCGA
FOXP2	O15409	p.Asn631Ter	RCV000627494	frameshift	-	NC_000007.14:g.114664321_114664324ATAA[1]	ClinVar
FOXP2	O15409	p.Asn632Tyr	rs1406288053	missense variant	-	NC_000007.14:g.114664327A>T	TOPMed
FOXP2	O15409	p.Ser635Gly	rs1371304452	missense variant	-	NC_000007.14:g.114664336A>G	gnomAD
FOXP2	O15409	p.Gly636Val	rs1291795029	missense variant	-	NC_000007.14:g.114664340G>T	gnomAD
FOXP2	O15409	p.Leu638Pro	rs1230202192	missense variant	-	NC_000007.14:g.114664346T>C	gnomAD
FOXP2	O15409	p.Ala640Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114664352C>T	NCI-TCGA
FOXP2	O15409	p.Val641Ile	rs745987986	missense variant	-	NC_000007.14:g.114664354G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.His642Tyr	COSM3632141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114664357C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Glu643Lys	rs576347421	missense variant	-	NC_000007.14:g.114664360G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu643Gln	rs576347421	missense variant	-	NC_000007.14:g.114664360G>C	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asp644His	rs763246182	missense variant	-	NC_000007.14:g.114664363G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn646Asp	rs201084683	missense variant	-	NC_000007.14:g.114664369A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn646Ser	rs145154396	missense variant	-	NC_000007.14:g.114664370A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn646Asp	RCV000153273	missense variant	-	NC_000007.14:g.114664369A>G	ClinVar
FOXP2	O15409	p.Asn646Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114664370A>T	NCI-TCGA
FOXP2	O15409	p.Asn646His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114664369A>C	NCI-TCGA
FOXP2	O15409	p.Asp650Glu	rs1461838608	missense variant	-	NC_000007.14:g.114664383T>A	TOPMed
FOXP2	O15409	p.His651Arg	rs1459605752	missense variant	-	NC_000007.14:g.114664385A>G	TOPMed,gnomAD
FOXP2	O15409	p.His651Leu	rs1459605752	missense variant	-	NC_000007.14:g.114664385A>T	TOPMed,gnomAD
FOXP2	O15409	p.Ile652Thr	rs377217556	missense variant	-	NC_000007.14:g.114664388T>C	ESP,TOPMed
FOXP2	O15409	p.Ser654Thr	rs768186362	missense variant	-	NC_000007.14:g.114664394G>C	ExAC,gnomAD
FOXP2	O15409	p.Ser654Asn	rs768186362	missense variant	-	NC_000007.14:g.114664394G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser654Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114664394G>T	NCI-TCGA
FOXP2	O15409	p.Gly656Val	COSM3831675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114664400G>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Asn657Lys	rs753356750	missense variant	-	NC_000007.14:g.114664404C>G	ExAC,gnomAD
FOXP2	O15409	p.Pro660Leu	rs562313396	missense variant	-	NC_000007.14:g.114664412C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gly661Asp	rs529427719	missense variant	-	NC_000007.14:g.114664415G>A	1000Genomes,ExAC,gnomAD
FOXP2	O15409	p.Gly661Asp	RCV000329630	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114664415G>A	ClinVar
FOXP2	O15409	p.Cys662Trp	rs758052155	missense variant	-	NC_000007.14:g.114664419C>G	ExAC,gnomAD
FOXP2	O15409	p.Ser663Thr	rs1294048735	missense variant	-	NC_000007.14:g.114664420T>A	gnomAD
FOXP2	O15409	p.Gln665Arg	rs1355061824	missense variant	-	NC_000007.14:g.114664427A>G	gnomAD
FOXP2	O15409	p.Pro666Arg	rs145254341	missense variant	-	NC_000007.14:g.114664430C>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Pro666Leu	rs145254341	missense variant	-	NC_000007.14:g.114664430C>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.His669Arg	rs1278315350	missense variant	-	NC_000007.14:g.114689784A>G	TOPMed,gnomAD
FOXP2	O15409	p.Ile671Val	rs1394481073	missense variant	-	NC_000007.14:g.114689789A>G	TOPMed,gnomAD
FOXP2	O15409	p.Ile671Asn	COSM269196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689790T>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Val673Ile	rs747467925	missense variant	-	NC_000007.14:g.114689795G>A	ExAC,gnomAD
FOXP2	O15409	p.Lys674Glu	rs1385939134	missense variant	-	NC_000007.14:g.114689798A>G	gnomAD
FOXP2	O15409	p.Glu675Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114689801G>A	NCI-TCGA
FOXP2	O15409	p.Glu676Lys	rs889341368	missense variant	-	NC_000007.14:g.114689804G>A	TOPMed
FOXP2	O15409	p.Val678Leu	rs774842735	missense variant	-	NC_000007.14:g.114689810G>C	ExAC,gnomAD
FOXP2	O15409	p.Val678Met	rs774842735	missense variant	-	NC_000007.14:g.114689810G>A	ExAC,gnomAD
FOXP2	O15409	p.Ile679Thr	rs1225170530	missense variant	-	NC_000007.14:g.114689814T>C	gnomAD
FOXP2	O15409	p.Ala680Thr	rs763629604	missense variant	-	NC_000007.14:g.114689816G>A	ExAC,gnomAD
FOXP2	O15409	p.Ala680Val	rs1442230907	missense variant	-	NC_000007.14:g.114689817C>T	gnomAD
FOXP2	O15409	p.Glu683Lys	COSM452175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689825G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Asp684Val	rs773947565	missense variant	-	NC_000007.14:g.114689829A>T	ExAC,gnomAD
FOXP2	O15409	p.Pro686Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114689835C>A	NCI-TCGA
FOXP2	O15409	p.Met687Val	rs202008325	missense variant	-	NC_000007.14:g.114689837A>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser688Thr	rs1349469230	missense variant	-	NC_000007.14:g.114689840T>A	TOPMed,gnomAD
FOXP2	O15409	p.Leu689Ser	rs750287608	missense variant	-	NC_000007.14:g.114689844T>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Val690Gly	rs755981069	missense variant	-	NC_000007.14:g.114689847T>G	ExAC,gnomAD
FOXP2	O15409	p.Thr691Lys	rs1468750371	missense variant	-	NC_000007.14:g.114689850C>A	gnomAD
FOXP2	O15409	p.Asn694Tyr	rs1251042963	missense variant	-	NC_000007.14:g.114689858A>T	gnomAD
FOXP2	O15409	p.His695Pro	rs928369081	missense variant	-	NC_000007.14:g.114689862A>C	TOPMed,gnomAD
FOXP2	O15409	p.Ser696Gly	rs1452002022	missense variant	-	NC_000007.14:g.114689864A>G	TOPMed
FOXP2	O15409	p.Pro697Leu	rs1184039801	missense variant	-	NC_000007.14:g.114689868C>T	gnomAD
FOXP2	O15409	p.Glu700Asp	rs147624408	missense variant	-	NC_000007.14:g.114689878A>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu700Lys	rs753857220	missense variant	-	NC_000007.14:g.114689876G>A	ExAC,gnomAD
FOXP2	O15409	p.Glu700Asp	RCV000357709	missense variant	-	NC_000007.14:g.114689878A>T	ClinVar
FOXP2	O15409	p.Asp701Asn	rs1397056325	missense variant	-	NC_000007.14:g.114689879G>A	gnomAD
FOXP2	O15409	p.Asp702Asn	rs748314629	missense variant	-	NC_000007.14:g.114689882G>A	ExAC,gnomAD
FOXP2	O15409	p.Arg703Lys	COSM1084276	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689886G>A	NCI-TCGA Cosmic
FOXP2	O15409	p.Glu704Asp	COSM1084278	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689890G>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Ile705Val	rs758714987	missense variant	-	NC_000007.14:g.114689891A>G	ExAC,gnomAD
FOXP2	O15409	p.Glu708Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.114689900G>A	NCI-TCGA
FOXP2	O15409	p.Pro709Leu	rs771314598	missense variant	-	NC_000007.14:g.114689904C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Pro709Ser	COSM1084280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.114689903C>T	NCI-TCGA Cosmic
FOXP2	O15409	p.Pro709Thr	rs1236343176	missense variant	-	NC_000007.14:g.114689903C>A	gnomAD
FOXP2	O15409	p.Ser711Phe	rs960747265	missense variant	-	NC_000007.14:g.114689910C>T	TOPMed,gnomAD
FOXP2	O15409	p.Glu712Asp	rs1212829863	missense variant	-	NC_000007.14:g.114689914A>T	gnomAD
FOXP2	O15409	p.Asp713Glu	rs369839969	missense variant	-	NC_000007.14:g.114689917T>A	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu714Pro	rs140766407	missense variant	-	NC_000007.14:g.114689919T>C	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu714Val	rs746400429	missense variant	-	NC_000007.14:g.114689918C>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu715Gly	rs1023491570	missense variant	-	NC_000007.14:g.114689922A>G	TOPMed
FOXP2	O15409	p.Ala6Val	rs764109995	missense variant	-	NC_000007.14:g.114426528C>T	ExAC,gnomAD
FOXP2	O15409	p.Thr7Pro	rs757351650	missense variant	-	NC_000007.14:g.114426530A>C	ExAC,gnomAD
FOXP2	O15409	p.Thr7Ile	rs377372067	missense variant	-	NC_000007.14:g.114426531C>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr9Ala	rs1476956484	missense variant	-	NC_000007.14:g.114426536A>G	TOPMed,gnomAD
FOXP2	O15409	p.Asn12Ser	rs1273852421	missense variant	-	NC_000007.14:g.114426546A>G	TOPMed
FOXP2	O15409	p.Ser13Asn	rs756555227	missense variant	-	NC_000007.14:g.114426549G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser13Gly	rs750736305	missense variant	-	NC_000007.14:g.114426548A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Met15Ile	rs1386656928	missense variant	-	NC_000007.14:g.114426556G>A	gnomAD
FOXP2	O15409	p.Met15Val	rs770093841	missense variant	-	NC_000007.14:g.114426554A>G	ExAC,gnomAD
FOXP2	O15409	p.Gln17Leu	rs201649896	missense variant	-	NC_000007.14:g.114426561A>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln17Leu	RCV000234933	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114426561A>T	ClinVar
FOXP2	O15409	p.Asn18Asp	rs763263115	missense variant	-	NC_000007.14:g.114426563A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn18Asp	RCV000319526	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114426563A>G	ClinVar
FOXP2	O15409	p.Met20Val	rs777361904	missense variant	-	NC_000007.14:g.114426569A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser21Asn	rs746524111	missense variant	-	NC_000007.14:g.114426573G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu23Arg	rs745618497	missense variant	-	NC_000007.14:g.114426579T>G	ExAC,gnomAD
FOXP2	O15409	p.Ser24Gly	rs181670107	missense variant	-	NC_000007.14:g.114426581A>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu27Ile	rs1169006435	missense variant	-	NC_000007.14:g.114426590T>A	TOPMed
FOXP2	O15409	p.Asp28Ala	rs762817913	missense variant	-	NC_000007.14:g.114426594A>C	ExAC,gnomAD
FOXP2	O15409	p.Ser31Asn	rs762007110	missense variant	-	NC_000007.14:g.114426603G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser31Gly	rs774408585	missense variant	-	NC_000007.14:g.114426602A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser36Pro	rs750701057	missense variant	-	NC_000007.14:g.114426617T>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser37Asn	rs1164029715	missense variant	-	NC_000007.14:g.114426621G>A	gnomAD
FOXP2	O15409	p.Gly38Asp	rs760842249	missense variant	-	NC_000007.14:g.114426624G>A	ExAC,gnomAD
FOXP2	O15409	p.Asp39Tyr	rs1423083583	missense variant	-	NC_000007.14:g.114426626G>T	gnomAD
FOXP2	O15409	p.Thr40Ile	rs185960561	missense variant	-	NC_000007.14:g.114426630C>T	1000Genomes,gnomAD
FOXP2	O15409	p.Ser41Gly	rs766803095	missense variant	-	NC_000007.14:g.114426632A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser42Cys	rs754271344	missense variant	-	NC_000007.14:g.114426636C>G	ExAC,gnomAD
FOXP2	O15409	p.Ser42Pro	rs942638508	missense variant	-	NC_000007.14:g.114426635T>C	gnomAD
FOXP2	O15409	p.Glu43Lys	rs1244944146	missense variant	-	NC_000007.14:g.114426638G>A	gnomAD
FOXP2	O15409	p.Val44Gly	rs1283187808	missense variant	-	NC_000007.14:g.114426642T>G	gnomAD
FOXP2	O15409	p.Ser45Thr	rs377588856	missense variant	-	NC_000007.14:g.114426645G>C	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Val47Ala	rs1254975807	missense variant	-	NC_000007.14:g.114426651T>C	TOPMed
FOXP2	O15409	p.Glu48Lys	rs779632352	missense variant	-	NC_000007.14:g.114426653G>A	ExAC,gnomAD
FOXP2	O15409	p.Glu48Gly	rs1202904573	missense variant	-	NC_000007.14:g.114426654A>G	gnomAD
FOXP2	O15409	p.Ala57Thr	rs748073993	missense variant	-	NC_000007.14:g.114534617G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala61Ser	rs1452181228	missense variant	-	NC_000007.14:g.114534629G>T	gnomAD
FOXP2	O15409	p.Ala61Thr	rs1452181228	missense variant	-	NC_000007.14:g.114534629G>A	gnomAD
FOXP2	O15409	p.Gln63His	rs1357512652	missense variant	-	NC_000007.14:g.114534637A>T	TOPMed,gnomAD
FOXP2	O15409	p.Leu65Ile	rs777042566	missense variant	-	NC_000007.14:g.114534641C>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu66Ter	RCV000624216	nonsense	Inborn genetic diseases	NC_000007.14:g.114534645T>G	ClinVar
FOXP2	O15409	p.Leu66Ter	rs1554412300	stop gained	-	NC_000007.14:g.114534645T>G	-
FOXP2	O15409	p.Gln67Arg	rs765647678	missense variant	-	NC_000007.14:g.114534648A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln67Ter	rs759949520	stop gained	-	NC_000007.14:g.114534647C>T	ExAC,gnomAD
FOXP2	O15409	p.Gln67Glu	rs759949520	missense variant	-	NC_000007.14:g.114534647C>G	ExAC,gnomAD
FOXP2	O15409	p.Gln67Glu	RCV000279573	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114534647C>G	ClinVar
FOXP2	O15409	p.Thr70Ala	rs775730461	missense variant	-	NC_000007.14:g.114534656A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser71Arg	rs1237536573	missense variant	-	NC_000007.14:g.114534659A>C	gnomAD
FOXP2	O15409	p.Ser71Gly	rs1237536573	missense variant	-	NC_000007.14:g.114534659A>G	gnomAD
FOXP2	O15409	p.Lys74Arg	rs1448096881	missense variant	-	NC_000007.14:g.114534669A>G	TOPMed
FOXP2	O15409	p.Ser75Phe	rs763449275	missense variant	-	NC_000007.14:g.114534672C>T	ExAC,gnomAD
FOXP2	O15409	p.Ser78Ile	rs764574245	missense variant	-	NC_000007.14:g.114534681G>T	ExAC,gnomAD
FOXP2	O15409	p.Ser78Asn	rs764574245	missense variant	-	NC_000007.14:g.114534681G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser78Gly	rs1056005508	missense variant	-	NC_000007.14:g.114534680A>G	gnomAD
FOXP2	O15409	p.Ser79Asn	rs1416091793	missense variant	-	NC_000007.14:g.114534684G>A	gnomAD
FOXP2	O15409	p.Ser79Arg	rs749932113	missense variant	-	NC_000007.14:g.114534685T>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln82His	rs755668650	missense variant	-	NC_000007.14:g.114534694G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Arg83Gly	rs765980960	missense variant	-	NC_000007.14:g.114534695A>G	ExAC,gnomAD
FOXP2	O15409	p.Pro84Ser	rs1419544157	missense variant	-	NC_000007.14:g.114534698C>T	TOPMed
FOXP2	O15409	p.Val87Met	rs1342506252	missense variant	-	NC_000007.14:g.114628540G>A	TOPMed,gnomAD
FOXP2	O15409	p.Val89Met	rs1330279241	missense variant	-	NC_000007.14:g.114628546G>A	TOPMed
FOXP2	O15409	p.Ser90Ter	rs763737160	stop gained	-	NC_000007.14:g.114628550C>A	ExAC,gnomAD
FOXP2	O15409	p.Ser90Pro	rs762699659	missense variant	-	NC_000007.14:g.114628549T>C	ExAC,gnomAD
FOXP2	O15409	p.Ala92Thr	rs868366293	missense variant	-	NC_000007.14:g.114628555G>A	gnomAD
FOXP2	O15409	p.Met94Lys	rs1436939063	missense variant	-	NC_000007.14:g.114628562T>A	gnomAD
FOXP2	O15409	p.Met94Ile	rs797045587	missense variant	-	NC_000007.14:g.114628563G>T	-
FOXP2	O15409	p.Met94Ile	RCV000192462	missense variant	-	NC_000007.14:g.114628563G>T	ClinVar
FOXP2	O15409	p.Thr95Ser	rs757255710	missense variant	-	NC_000007.14:g.114628564A>T	ExAC,gnomAD
FOXP2	O15409	p.Gln97His	rs1168362217	missense variant	-	NC_000007.14:g.114628572G>C	TOPMed
FOXP2	O15409	p.Val98Met	rs750505654	missense variant	-	NC_000007.14:g.114628573G>A	ExAC,gnomAD
FOXP2	O15409	p.Val98Gly	rs756184095	missense variant	-	NC_000007.14:g.114628574T>G	ExAC,gnomAD
FOXP2	O15409	p.Ile99Phe	rs1347150082	missense variant	-	NC_000007.14:g.114628576A>T	gnomAD
FOXP2	O15409	p.Thr100Ile	rs780212480	missense variant	-	NC_000007.14:g.114628580C>T	ExAC,gnomAD
FOXP2	O15409	p.Val112Phe	rs1428334171	missense variant	-	NC_000007.14:g.114628615G>T	gnomAD
FOXP2	O15409	p.Pro115Ser	rs1191637371	missense variant	-	NC_000007.14:g.114628624C>T	gnomAD
FOXP2	O15409	p.Gln117His	rs773759127	missense variant	-	NC_000007.14:g.114628632G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala120Ser	rs1480440632	missense variant	-	NC_000007.14:g.114628639G>T	gnomAD
FOXP2	O15409	p.Leu121Phe	rs1403341767	missense variant	-	NC_000007.14:g.114628642C>T	gnomAD
FOXP2	O15409	p.Ala127Val	rs908446199	missense variant	-	NC_000007.14:g.114628661C>T	TOPMed
FOXP2	O15409	p.Leu130Arg	rs1383948441	missense variant	-	NC_000007.14:g.114628670T>G	gnomAD
FOXP2	O15409	p.Leu130Met	rs769148228	missense variant	-	NC_000007.14:g.114628669C>A	ExAC,gnomAD
FOXP2	O15409	p.Phe138Leu	rs772881522	missense variant	-	NC_000007.14:g.114629820T>C	ExAC,gnomAD
FOXP2	O15409	p.His147Arg	rs1441263206	missense variant	-	NC_000007.14:g.114629848A>G	TOPMed
FOXP2	O15409	p.Gln152Ter	rs1169702315	stop gained	-	NC_000007.14:g.114629862C>T	gnomAD
FOXP2	O15409	p.Gln155Glu	rs1338895971	missense variant	-	NC_000007.14:g.114629871C>G	gnomAD
FOXP2	O15409	p.Gln157Pro	rs770756604	missense variant	-	NC_000007.14:g.114629878A>C	ExAC,gnomAD
FOXP2	O15409	p.Gln159Arg	rs1407370674	missense variant	-	NC_000007.14:g.114629884A>G	TOPMed
FOXP2	O15409	p.Gln159His	rs1391902915	missense variant	-	NC_000007.14:g.114629885G>T	TOPMed
FOXP2	O15409	p.Gln160His	rs776670223	missense variant	-	NC_000007.14:g.114629888G>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln167Ter	rs1038896563	stop gained	-	NC_000007.14:g.114629907C>T	TOPMed
FOXP2	O15409	p.Gln167Lys	rs1038896563	missense variant	-	NC_000007.14:g.114629907C>A	TOPMed
FOXP2	O15409	p.Gln168Ter	RCV000732893	nonsense	-	NC_000007.14:g.114629910C>T	ClinVar
FOXP2	O15409	p.Gln170Ter	rs893601763	stop gained	-	NC_000007.14:g.114629916C>T	TOPMed
FOXP2	O15409	p.Gln173Lys	rs564204446	missense variant	-	NC_000007.14:g.114629925C>A	1000Genomes,gnomAD
FOXP2	O15409	p.Gln173His	rs781437567	missense variant	-	NC_000007.14:g.114629927A>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln177His	rs111801240	missense variant	-	NC_000007.14:g.114629939A>T	1000Genomes,ESP,TOPMed
FOXP2	O15409	p.Gln178Leu	rs1243599633	missense variant	-	NC_000007.14:g.114629941A>T	gnomAD
FOXP2	O15409	p.Gln178GlnTer	rs1220494980	stop gained	-	NC_000007.14:g.114629942_114629943insTAA	TOPMed
FOXP2	O15409	p.del179TerGlu	rs1554434732	stop gained	-	NC_000007.14:g.114629942_114629943insTAAGAG	TOPMed
FOXP2	O15409	p.Gln179Glu	rs1003245699	missense variant	-	NC_000007.14:g.114629943C>G	TOPMed
FOXP2	O15409	p.Gln179Ter	rs1003245699	stop gained	-	NC_000007.14:g.114629943C>T	TOPMed
FOXP2	O15409	p.Gln182Pro	rs1359238420	missense variant	-	NC_000007.14:g.114629953A>C	TOPMed
FOXP2	O15409	p.Gln183Arg	rs771840840	missense variant	-	NC_000007.14:g.114629956A>G	ExAC,gnomAD
FOXP2	O15409	p.Gln185Leu	rs1029480822	missense variant	-	NC_000007.14:g.114629962A>T	TOPMed,gnomAD
FOXP2	O15409	p.Gln186Ter	rs1265049777	stop gained	-	NC_000007.14:g.114629964C>T	TOPMed
FOXP2	O15409	p.Gly194Ala	rs899776651	missense variant	-	NC_000007.14:g.114629989G>C	TOPMed
FOXP2	O15409	p.Lys195Met	rs1221297848	missense variant	-	NC_000007.14:g.114629992A>T	TOPMed
FOXP2	O15409	p.Gln196Glu	rs1347299046	missense variant	-	NC_000007.14:g.114629994C>G	gnomAD
FOXP2	O15409	p.Ala197Val	rs769729974	missense variant	-	NC_000007.14:g.114629998C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala197Gly	rs769729974	missense variant	-	NC_000007.14:g.114629998C>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala197Glu	rs769729974	missense variant	-	NC_000007.14:g.114629998C>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln200His	rs1281884581	missense variant	-	NC_000007.14:g.114631530G>C	gnomAD
FOXP2	O15409	p.Gln209Leu	rs1366123623	missense variant	-	NC_000007.14:g.114631556A>T	TOPMed,gnomAD
FOXP2	O15409	p.Gln213His	rs1339945518	missense variant	-	NC_000007.14:g.114631569G>T	TOPMed
FOXP2	O15409	p.Gln218Arg	rs1158252110	missense variant	-	NC_000007.14:g.114631583A>G	gnomAD
FOXP2	O15409	p.Gln220Arg	rs1378829324	missense variant	-	NC_000007.14:g.114631589A>G	gnomAD
FOXP2	O15409	p.Gln220His	rs749254802	missense variant	-	NC_000007.14:g.114631590G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu222Val	rs768728605	missense variant	-	NC_000007.14:g.114631594C>G	ExAC,gnomAD
FOXP2	O15409	p.Met224Ile	rs774304280	missense variant	-	NC_000007.14:g.114631602G>C	ExAC,gnomAD
FOXP2	O15409	p.Gln225His	rs143019903	missense variant	-	NC_000007.14:g.114631605A>T	ESP,ExAC,TOPMed
FOXP2	O15409	p.Gln225Glu	rs1402486267	missense variant	-	NC_000007.14:g.114631603C>G	gnomAD
FOXP2	O15409	p.Gln226Arg	rs976182523	missense variant	-	NC_000007.14:g.114631607A>G	TOPMed
FOXP2	O15409	p.Leu227Ter	RCV000153269	frameshift	-	NC_000007.14:g.114631608dup	ClinVar
FOXP2	O15409	p.Gln231His	rs755829229	missense variant	-	NC_000007.14:g.114631623G>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu236Phe	rs1331241429	missense variant	-	NC_000007.14:g.114631636C>T	TOPMed
FOXP2	O15409	p.Arg238His	rs766965457	missense variant	-	NC_000007.14:g.114631643G>A	ExAC,gnomAD
FOXP2	O15409	p.Arg238Ser	rs761174159	missense variant	-	NC_000007.14:g.114631642C>A	ExAC,gnomAD
FOXP2	O15409	p.Arg238Cys	rs761174159	missense variant	-	NC_000007.14:g.114631642C>T	ExAC,gnomAD
FOXP2	O15409	p.Gln239Arg	rs754361203	missense variant	-	NC_000007.14:g.114631646A>G	ExAC,gnomAD
FOXP2	O15409	p.Gln239Ter	RCV000760797	nonsense	-	NC_000007.14:g.114631645C>T	ClinVar
FOXP2	O15409	p.Leu241Ile	rs148201242	missense variant	-	NC_000007.14:g.114631651C>A	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu241Val	rs148201242	missense variant	-	NC_000007.14:g.114631651C>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Pro245Leu	rs1438512681	missense variant	-	NC_000007.14:g.114631664C>T	gnomAD
FOXP2	O15409	p.Gly247Arg	rs767652094	missense variant	-	NC_000007.14:g.114631669G>C	TOPMed,gnomAD
FOXP2	O15409	p.Gly247Ser	rs767652094	missense variant	-	NC_000007.14:g.114631669G>A	TOPMed,gnomAD
FOXP2	O15409	p.Ala250Thr	rs780869585	missense variant	-	NC_000007.14:g.114631678G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser255Trp	rs1054712701	missense variant	-	NC_000007.14:g.114631694C>G	TOPMed,gnomAD
FOXP2	O15409	p.Ser255Leu	rs1054712701	missense variant	-	NC_000007.14:g.114631694C>T	TOPMed,gnomAD
FOXP2	O15409	p.Ser255Pro	rs531504911	missense variant	-	NC_000007.14:g.114631693T>C	1000Genomes,ExAC,gnomAD
FOXP2	O15409	p.Ser262Asn	rs1383735594	missense variant	-	NC_000007.14:g.114642419G>A	gnomAD
FOXP2	O15409	p.Ala264Val	rs750028450	missense variant	-	NC_000007.14:g.114642425C>T	ExAC,gnomAD
FOXP2	O15409	p.Glu265Val	rs1438024604	missense variant	-	NC_000007.14:g.114642428A>T	TOPMed
FOXP2	O15409	p.Leu269Phe	rs1276375707	missense variant	-	NC_000007.14:g.114642441A>T	gnomAD
FOXP2	O15409	p.Trp270Cys	rs1224336230	missense variant	-	NC_000007.14:g.114642444G>T	gnomAD
FOXP2	O15409	p.Trp270Arg	rs779754644	missense variant	-	NC_000007.14:g.114642442T>C	ExAC,gnomAD
FOXP2	O15409	p.Glu272Asp	rs753640569	missense variant	-	NC_000007.14:g.114642450A>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gly275Glu	rs754927033	missense variant	-	NC_000007.14:g.114642458G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Val276Leu	rs1207268336	missense variant	-	NC_000007.14:g.114642460G>C	gnomAD
FOXP2	O15409	p.Met279Val	rs778767619	missense variant	-	NC_000007.14:g.114642469A>G	ExAC,gnomAD
FOXP2	O15409	p.Asp281Asn	rs748231233	missense variant	-	NC_000007.14:g.114642475G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gly283Val	rs985325734	missense variant	-	NC_000007.14:g.114642482G>T	TOPMed
FOXP2	O15409	p.Gly283Ser	rs1192209213	missense variant	-	NC_000007.14:g.114642481G>A	gnomAD
FOXP2	O15409	p.Ile284Phe	rs772009456	missense variant	-	NC_000007.14:g.114642484A>T	ExAC,gnomAD
FOXP2	O15409	p.Ile284Val	rs772009456	missense variant	-	NC_000007.14:g.114642484A>G	ExAC,gnomAD
FOXP2	O15409	p.Lys285Gln	rs778026488	missense variant	-	NC_000007.14:g.114642487A>C	ExAC,gnomAD
FOXP2	O15409	p.Leu289Pro	rs1175210435	missense variant	-	NC_000007.14:g.114642500T>C	gnomAD
FOXP2	O15409	p.Asp290Asn	rs940890058	missense variant	-	NC_000007.14:g.114642502G>A	TOPMed,gnomAD
FOXP2	O15409	p.Leu291Pro	rs1375575897	missense variant	-	NC_000007.14:g.114642506T>C	gnomAD
FOXP2	O15409	p.Thr292Ile	rs777132475	missense variant	-	NC_000007.14:g.114642509C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr292Ser	rs780676420	missense variant	-	NC_000007.14:g.114642508A>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr293Ser	rs1384054598	missense variant	-	NC_000007.14:g.114642512C>G	gnomAD
FOXP2	O15409	p.Asn294Asp	rs770301569	missense variant	-	NC_000007.14:g.114642514A>G	ExAC,gnomAD
FOXP2	O15409	p.Asn294Lys	rs937208031	missense variant	-	NC_000007.14:g.114642516C>A	TOPMed,gnomAD
FOXP2	O15409	p.Asn295Lys	rs763537390	missense variant	-	NC_000007.14:g.114642519T>G	ExAC,gnomAD
FOXP2	O15409	p.Asn295Ser	rs775819986	missense variant	-	NC_000007.14:g.114642518A>G	ExAC,gnomAD
FOXP2	O15409	p.Ser296Thr	rs766956626	missense variant	-	NC_000007.14:g.114642520T>A	ExAC,gnomAD
FOXP2	O15409	p.Ser296Phe	rs866570059	missense variant	-	NC_000007.14:g.114642521C>T	-
FOXP2	O15409	p.Ser297Cys	rs150907165	missense variant	-	NC_000007.14:g.114642524C>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser298Leu	rs753643915	missense variant	-	NC_000007.14:g.114642527C>T	ExAC,TOPMed
FOXP2	O15409	p.Ser298Ala	rs138374374	missense variant	-	NC_000007.14:g.114642526T>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr300Ile	rs1277744858	missense variant	-	NC_000007.14:g.114642533C>T	TOPMed
FOXP2	O15409	p.Thr300Ala	rs752528443	missense variant	-	NC_000007.14:g.114642532A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser302Cys	rs1050432134	missense variant	-	NC_000007.14:g.114642539C>G	TOPMed
FOXP2	O15409	p.Thr304Ile	rs555128980	missense variant	-	NC_000007.14:g.114642545C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr304Pro	rs758423327	missense variant	-	NC_000007.14:g.114642544A>C	ExAC
FOXP2	O15409	p.Ala307Val	rs771268489	missense variant	-	NC_000007.14:g.114642554C>T	ExAC,gnomAD
FOXP2	O15409	p.Ala307Ser	rs747155760	missense variant	-	NC_000007.14:g.114642553G>T	ExAC,gnomAD
FOXP2	O15409	p.Ser308Leu	rs889178260	missense variant	-	NC_000007.14:g.114642557C>T	TOPMed
FOXP2	O15409	p.Pro310Ser	rs1227082843	missense variant	-	NC_000007.14:g.114642562C>T	TOPMed
FOXP2	O15409	p.Ile311Val	rs1362984312	missense variant	-	NC_000007.14:g.114642565A>G	gnomAD
FOXP2	O15409	p.His313Tyr	rs770001809	missense variant	-	NC_000007.14:g.114642571C>T	ExAC,gnomAD
FOXP2	O15409	p.His313Arg	rs1366122974	missense variant	-	NC_000007.14:g.114642572A>G	gnomAD
FOXP2	O15409	p.Ser315Phe	rs1425319727	missense variant	-	NC_000007.14:g.114642578C>T	TOPMed,gnomAD
FOXP2	O15409	p.Ser315Thr	rs1359401489	missense variant	-	NC_000007.14:g.114642577T>A	TOPMed
FOXP2	O15409	p.Ile316Val	rs563897082	missense variant	-	NC_000007.14:g.114642580A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ile316Thr	rs763302537	missense variant	-	NC_000007.14:g.114642581T>C	ExAC,gnomAD
FOXP2	O15409	p.Val317Leu	rs769218331	missense variant	-	NC_000007.14:g.114642583G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Val317Ala	rs1308003272	missense variant	-	NC_000007.14:g.114642584T>C	gnomAD
FOXP2	O15409	p.Gly319Glu	rs772694863	missense variant	-	NC_000007.14:g.114642590G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser321Tyr	rs944127085	missense variant	-	NC_000007.14:g.114642596C>A	TOPMed
FOXP2	O15409	p.Ser321Ala	rs375163729	missense variant	-	NC_000007.14:g.114642595T>G	ESP,TOPMed,gnomAD
FOXP2	O15409	p.Ser322Ala	rs1039811463	missense variant	-	NC_000007.14:g.114642598T>G	TOPMed
FOXP2	O15409	p.Val323Ile	rs760226272	missense variant	-	NC_000007.14:g.114642601G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser325Arg	rs753394697	missense variant	-	NC_000007.14:g.114642609T>G	ExAC,gnomAD
FOXP2	O15409	p.Ala326Ser	rs1177378764	missense variant	-	NC_000007.14:g.114642610G>T	gnomAD
FOXP2	O15409	p.Arg328Ter	rs121908378	stop gained	Speech-language disorder 1 (spch1)	NC_000007.14:g.114642616C>T	-
FOXP2	O15409	p.Arg328Gln	rs759256511	missense variant	-	NC_000007.14:g.114642617G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Arg328Pro	rs759256511	missense variant	-	NC_000007.14:g.114642617G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Arg328Ter	RCV000005372	nonsense	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114642616C>T	ClinVar
FOXP2	O15409	p.Arg328Gln	RCV000179945	missense variant	-	NC_000007.14:g.114642617G>A	ClinVar
FOXP2	O15409	p.Asp329Glu	rs1483420106	missense variant	-	NC_000007.14:g.114642621C>G	TOPMed
FOXP2	O15409	p.Ser330Cys	rs886061916	missense variant	-	NC_000007.14:g.114642622A>T	-
FOXP2	O15409	p.Ser330Cys	RCV000304764	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114642622A>T	ClinVar
FOXP2	O15409	p.Ser331Trp	rs1464232313	missense variant	-	NC_000007.14:g.114644687C>G	TOPMed,gnomAD
FOXP2	O15409	p.His333Leu	rs372704196	missense variant	-	NC_000007.14:g.114644693A>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.His333Arg	rs372704196	missense variant	-	NC_000007.14:g.114644693A>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu334Lys	rs1447805795	missense variant	-	NC_000007.14:g.114644695G>A	gnomAD
FOXP2	O15409	p.Glu334Val	rs757270050	missense variant	-	NC_000007.14:g.114644696A>T	ExAC,gnomAD
FOXP2	O15409	p.Thr336Ser	rs750582959	missense variant	-	NC_000007.14:g.114644701A>T	ExAC,gnomAD
FOXP2	O15409	p.Thr336Ile	rs945804979	missense variant	-	NC_000007.14:g.114644702C>T	TOPMed
FOXP2	O15409	p.Gly337Glu	rs1315572414	missense variant	-	NC_000007.14:g.114644705G>A	gnomAD
FOXP2	O15409	p.Ala338Thr	rs767291302	missense variant	-	NC_000007.14:g.114644707G>A	TOPMed
FOXP2	O15409	p.Ala338Ser	rs767291302	missense variant	-	NC_000007.14:g.114644707G>T	TOPMed
FOXP2	O15409	p.His340Tyr	rs1330529378	missense variant	-	NC_000007.14:g.114644713C>T	TOPMed,gnomAD
FOXP2	O15409	p.Thr341Ala	rs780371962	missense variant	-	NC_000007.14:g.114644716A>G	ExAC,gnomAD
FOXP2	O15409	p.Tyr343Cys	rs755297474	missense variant	-	NC_000007.14:g.114644723A>G	ExAC,gnomAD
FOXP2	O15409	p.His345Arg	rs1295112601	missense variant	-	NC_000007.14:g.114644729A>G	TOPMed
FOXP2	O15409	p.Trp350Ter	rs1349250538	stop gained	-	NC_000007.14:g.114644745G>A	TOPMed
FOXP2	O15409	p.Ser355Arg	rs1374396490	missense variant	-	NC_000007.14:g.114644760C>G	gnomAD
FOXP2	O15409	p.Phe360Leu	rs748597582	missense variant	-	NC_000007.14:g.114644775T>G	ExAC,gnomAD
FOXP2	O15409	p.Lys365Met	rs1476893897	missense variant	-	NC_000007.14:g.114644789A>T	gnomAD
FOXP2	O15409	p.Ala372Ser	rs778396336	missense variant	-	NC_000007.14:g.114652222G>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala372Thr	rs778396336	missense variant	-	NC_000007.14:g.114652222G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asp375Gly	rs745342916	missense variant	-	NC_000007.14:g.114652232A>G	ExAC,gnomAD
FOXP2	O15409	p.Arg376Leu	rs1219589831	missense variant	-	NC_000007.14:g.114652235G>T	gnomAD
FOXP2	O15409	p.Thr378Ala	rs769296657	missense variant	-	NC_000007.14:g.114652240A>G	ExAC
FOXP2	O15409	p.Gln390Ter	RCV000234941	frameshift	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114652276_114652277del	ClinVar
FOXP2	O15409	p.Glu392Gly	rs748878832	missense variant	-	NC_000007.14:g.114652283A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Arg399Cys	rs778748061	missense variant	-	NC_000007.14:g.114653938C>T	ExAC,gnomAD
FOXP2	O15409	p.Glu400Lys	rs1276471970	missense variant	-	NC_000007.14:g.114653941G>A	gnomAD
FOXP2	O15409	p.Arg401Cys	rs762564041	missense variant	-	NC_000007.14:g.114653944C>T	gnomAD
FOXP2	O15409	p.Met406Lys	rs1343377230	missense variant	-	NC_000007.14:g.114653960T>A	gnomAD
FOXP2	O15409	p.Thr407Asn	rs541820585	missense variant	-	NC_000007.14:g.114653963C>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.His408Asp	rs760596736	missense variant	-	NC_000007.14:g.114653965C>G	ExAC,gnomAD
FOXP2	O15409	p.His408Gln	rs376460299	missense variant	-	NC_000007.14:g.114653967C>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.His408Gln	RCV000081636	missense variant	-	NC_000007.14:g.114653967C>G	ClinVar
FOXP2	O15409	p.Met411Val	rs776679391	missense variant	-	NC_000007.14:g.114653974A>G	ExAC,gnomAD
FOXP2	O15409	p.Met411Leu	rs776679391	missense variant	-	NC_000007.14:g.114653974A>C	ExAC,gnomAD
FOXP2	O15409	p.Arg412Gln	rs1270486405	missense variant	-	NC_000007.14:g.114653978G>A	gnomAD
FOXP2	O15409	p.Glu415Lys	rs1433376279	missense variant	-	NC_000007.14:g.114653986G>A	gnomAD
FOXP2	O15409	p.Pro416Arg	rs1290398957	missense variant	-	NC_000007.14:g.114653990C>G	gnomAD
FOXP2	O15409	p.Pro416Thr	rs369313543	missense variant	-	NC_000007.14:g.114653989C>A	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser419Ala	rs775743904	missense variant	-	NC_000007.14:g.114653998T>G	ExAC,gnomAD
FOXP2	O15409	p.Ser419Pro	rs775743904	missense variant	-	NC_000007.14:g.114653998T>C	ExAC,gnomAD
FOXP2	O15409	p.Pro422Ser	rs751931499	missense variant	-	NC_000007.14:g.114654007C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Pro422Thr	rs751931499	missense variant	-	NC_000007.14:g.114654007C>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn424Lys	rs1302127838	missense variant	-	NC_000007.14:g.114658071T>G	TOPMed
FOXP2	O15409	p.Val426Leu	rs761262072	missense variant	-	NC_000007.14:g.114658075G>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser427Cys	rs1363020478	missense variant	-	NC_000007.14:g.114658079C>G	gnomAD
FOXP2	O15409	p.Ser428Ile	rs727503937	missense variant	-	NC_000007.14:g.114658082G>T	ExAC,gnomAD
FOXP2	O15409	p.Ser428Cys	rs895017794	missense variant	-	NC_000007.14:g.114658081A>T	TOPMed,gnomAD
FOXP2	O15409	p.Ser428Ile	RCV000153271	missense variant	-	NC_000007.14:g.114658082G>T	ClinVar
FOXP2	O15409	p.Ser428Gly	rs895017794	missense variant	-	NC_000007.14:g.114658081A>G	TOPMed,gnomAD
FOXP2	O15409	p.Thr430Ile	rs149805525	missense variant	-	NC_000007.14:g.114658088C>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr430Asn	rs149805525	missense variant	-	NC_000007.14:g.114658088C>A	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Met431Thr	rs1275101579	missense variant	-	NC_000007.14:g.114658091T>C	TOPMed,gnomAD
FOXP2	O15409	p.Met431Leu	rs762414429	missense variant	-	NC_000007.14:g.114658090A>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Met431Val	rs762414429	missense variant	-	NC_000007.14:g.114658090A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser432Leu	rs1366555549	missense variant	-	NC_000007.14:g.114658094C>T	gnomAD
FOXP2	O15409	p.Thr438Ala	rs763694805	missense variant	-	NC_000007.14:g.114658111A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr438Ile	rs751166815	missense variant	-	NC_000007.14:g.114658112C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Thr438Pro	rs763694805	missense variant	-	NC_000007.14:g.114658111A>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser439Phe	rs1215855483	missense variant	-	NC_000007.14:g.114658115C>T	gnomAD
FOXP2	O15409	p.Pro440Ser	rs1285369301	missense variant	-	NC_000007.14:g.114658117C>T	gnomAD
FOXP2	O15409	p.Gln441His	rs1224001486	missense variant	-	NC_000007.14:g.114658122G>C	gnomAD
FOXP2	O15409	p.Gln445Arg	rs372477540	missense variant	-	NC_000007.14:g.114658133A>G	ESP,ExAC,gnomAD
FOXP2	O15409	p.Thr446Ser	rs1190852721	missense variant	-	NC_000007.14:g.114658135A>T	TOPMed
FOXP2	O15409	p.Thr446Asn	rs756019068	missense variant	-	NC_000007.14:g.114658136C>A	ExAC,gnomAD
FOXP2	O15409	p.Thr448Ile	RCV000719671	missense variant	History of neurodevelopmental disorder	NC_000007.14:g.114658142C>T	ClinVar
FOXP2	O15409	p.Thr451Met	rs199776572	missense variant	-	NC_000007.14:g.114658151C>T	1000Genomes,TOPMed,gnomAD
FOXP2	O15409	p.Ala452Val	rs189863975	missense variant	-	NC_000007.14:g.114658154C>T	1000Genomes,ExAC,gnomAD
FOXP2	O15409	p.Pro453Ser	rs749278394	missense variant	-	NC_000007.14:g.114658156C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ile457Leu	rs1323738523	missense variant	-	NC_000007.14:g.114658168A>C	gnomAD
FOXP2	O15409	p.Thr458Ter	RCV000599291	frameshift	-	NC_000007.14:g.114658170del	ClinVar
FOXP2	O15409	p.Ser462Ter	rs748312627	stop gained	-	NC_000007.14:g.114658184C>A	ExAC
FOXP2	O15409	p.Ile464Thr	rs773700650	missense variant	-	NC_000007.14:g.114658190T>C	ExAC,gnomAD
FOXP2	O15409	p.Ile464Leu	rs1256659385	missense variant	-	NC_000007.14:g.114658189A>C	TOPMed
FOXP2	O15409	p.Ile464Val	rs1256659385	missense variant	-	NC_000007.14:g.114658189A>G	TOPMed
FOXP2	O15409	p.Thr465Pro	rs761170451	missense variant	-	NC_000007.14:g.114658192A>C	ExAC,gnomAD
FOXP2	O15409	p.Pro466Leu	rs771438075	missense variant	-	NC_000007.14:g.114658196C>T	ExAC,gnomAD
FOXP2	O15409	p.Ala467Thr	rs776966569	missense variant	-	NC_000007.14:g.114658198G>A	ExAC,gnomAD
FOXP2	O15409	p.Ser468Asn	rs1348548231	missense variant	-	NC_000007.14:g.114658202G>A	gnomAD
FOXP2	O15409	p.Val469Met	rs1230115579	missense variant	-	NC_000007.14:g.114658204G>A	gnomAD
FOXP2	O15409	p.Pro470Ser	rs1290752827	missense variant	-	NC_000007.14:g.114658207C>T	gnomAD
FOXP2	O15409	p.Asn471Ser	rs1345935751	missense variant	-	NC_000007.14:g.114658211A>G	TOPMed
FOXP2	O15409	p.Asn471Lys	rs1277076789	missense variant	-	NC_000007.14:g.114658212T>A	TOPMed
FOXP2	O15409	p.Val472Gly	rs760114813	missense variant	-	NC_000007.14:g.114658214T>G	ExAC,gnomAD
FOXP2	O15409	p.Val472Ala	rs760114813	missense variant	-	NC_000007.14:g.114658214T>C	ExAC,gnomAD
FOXP2	O15409	p.Ala474Thr	rs763457983	missense variant	-	NC_000007.14:g.114658219G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ile475Thr	rs1458512225	missense variant	-	NC_000007.14:g.114658223T>C	gnomAD
FOXP2	O15409	p.Ile475Val	rs1240394269	missense variant	-	NC_000007.14:g.114658222A>G	gnomAD
FOXP2	O15409	p.Arg476Ter	rs1178491246	stop gained	-	NC_000007.14:g.114658225C>T	gnomAD
FOXP2	O15409	p.Arg476Ter	RCV000754787	nonsense	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114658225C>T	ClinVar
FOXP2	O15409	p.Arg478Ter	rs1474090446	stop gained	-	NC_000007.14:g.114658231C>T	gnomAD
FOXP2	O15409	p.Asp481Asn	rs755825043	missense variant	-	NC_000007.14:g.114658240G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Tyr483His	rs1380696549	missense variant	-	NC_000007.14:g.114658246T>C	gnomAD
FOXP2	O15409	p.Tyr483Cys	rs779921362	missense variant	-	NC_000007.14:g.114658247A>G	ExAC,gnomAD
FOXP2	O15409	p.Pro486His	rs1445779721	missense variant	-	NC_000007.14:g.114658256C>A	gnomAD
FOXP2	O15409	p.Pro486Ser	rs753658194	missense variant	-	NC_000007.14:g.114658255C>T	ExAC,gnomAD
FOXP2	O15409	p.Met487Val	rs142199218	missense variant	-	NC_000007.14:g.114658258A>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser488Ala	rs201320940	missense variant	-	NC_000007.14:g.114658261T>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser488Ala	RCV000321527	missense variant	-	NC_000007.14:g.114658261T>G	ClinVar
FOXP2	O15409	p.Ala492Thr	rs1280238984	missense variant	-	NC_000007.14:g.114659361G>A	gnomAD
FOXP2	O15409	p.Ala492Val	rs766020871	missense variant	-	NC_000007.14:g.114659362C>T	ExAC,gnomAD
FOXP2	O15409	p.Pro493Thr	rs753732678	missense variant	-	NC_000007.14:g.114659364C>A	ExAC,gnomAD
FOXP2	O15409	p.Asn494Ser	rs1300216902	missense variant	-	NC_000007.14:g.114659368A>G	TOPMed
FOXP2	O15409	p.Pro505Leu	rs758513311	missense variant	-	NC_000007.14:g.114659401C>T	ExAC,gnomAD
FOXP2	O15409	p.Phe507Leu	rs1372909550	missense variant	-	NC_000007.14:g.114659406T>C	TOPMed
FOXP2	O15409	p.Ile513Leu	rs1218149104	missense variant	-	NC_000007.14:g.114659424A>C	gnomAD
FOXP2	O15409	p.Ser521Phe	rs1308658577	missense variant	-	NC_000007.14:g.114659588C>T	TOPMed
FOXP2	O15409	p.Tyr531His	rs879253772	missense variant	-	NC_000007.14:g.114659617T>C	-
FOXP2	O15409	p.Tyr531His	RCV000234952	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114659617T>C	ClinVar
FOXP2	O15409	p.Arg536Trp	rs765157455	missense variant	-	NC_000007.14:g.114659632C>T	ExAC,gnomAD
FOXP2	O15409	p.Arg536Gly	rs765157455	missense variant	-	NC_000007.14:g.114659632C>G	ExAC,gnomAD
FOXP2	O15409	p.Arg536Gln	rs758427088	missense variant	-	NC_000007.14:g.114659633G>A	ExAC,gnomAD
FOXP2	O15409	p.Ala539Ser	rs751732210	missense variant	-	NC_000007.14:g.114659641G>T	ExAC,gnomAD
FOXP2	O15409	p.Arg543His	rs1158865993	missense variant	-	NC_000007.14:g.114659654G>A	TOPMed
FOXP2	O15409	p.Ala545Val	rs1463421426	missense variant	-	NC_000007.14:g.114659660C>T	TOPMed
FOXP2	O15409	p.Arg553Cys	rs566961630	missense variant	-	NC_000007.14:g.114662074C>T	1000Genomes,ExAC
FOXP2	O15409	p.Arg553His	rs121908377	missense variant	Speech-language disorder 1 (spch1)	NC_000007.14:g.114662075G>A	-
FOXP2	O15409	p.Arg553His	rs121908377	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114662075G>A	UniProt,dbSNP
FOXP2	O15409	p.Arg553His	VAR_012278	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114662075G>A	UniProt
FOXP2	O15409	p.Arg553His	RCV000005371	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114662075G>A	ClinVar
FOXP2	O15409	p.Val563Ala	rs1270889010	missense variant	-	NC_000007.14:g.114662105T>C	gnomAD
FOXP2	O15409	p.Val565Ile	rs769641584	missense variant	-	NC_000007.14:g.114662110G>A	ExAC,gnomAD
FOXP2	O15409	p.Asn567Ile	rs1250616703	missense variant	-	NC_000007.14:g.114662117A>T	gnomAD
FOXP2	O15409	p.Gly570Val	rs1183578823	missense variant	-	NC_000007.14:g.114662126G>T	gnomAD
FOXP2	O15409	p.Val575Ter	RCV000478073	frameshift	-	NC_000007.14:g.114662140del	ClinVar
FOXP2	O15409	p.Gln581Arg	rs774292922	missense variant	-	NC_000007.14:g.114662159A>G	ExAC
FOXP2	O15409	p.Thr593Ala	rs1400180568	missense variant	-	NC_000007.14:g.114663457A>G	TOPMed,gnomAD
FOXP2	O15409	p.Leu594PheIle	RCV000735352	missense variant	Global developmental delay (DD)	NC_000007.14:g.114663462_114663463delinsTA	ClinVar
FOXP2	O15409	p.Leu594Val	rs1269264458	missense variant	-	NC_000007.14:g.114663460T>G	gnomAD
FOXP2	O15409	p.Asn597His	rs766476648	missense variant	-	NC_000007.14:g.114663469A>C	ExAC,gnomAD
FOXP2	O15409	p.Asn597His	RCV000234955	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114663469A>C	ClinVar
FOXP2	O15409	p.Ile598Met	rs565909014	missense variant	-	NC_000007.14:g.114663474A>G	1000Genomes,ExAC,gnomAD
FOXP2	O15409	p.Thr600Ser	rs1347015690	missense variant	-	NC_000007.14:g.114663479C>G	gnomAD
FOXP2	O15409	p.Tyr604Asn	rs1394757420	missense variant	-	NC_000007.14:g.114663490T>A	TOPMed
FOXP2	O15409	p.Tyr604Cys	rs377420314	missense variant	-	NC_000007.14:g.114663491A>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gln613Lys	rs765574065	missense variant	-	NC_000007.14:g.114663517C>A	ExAC,gnomAD
FOXP2	O15409	p.Ala614Gly	rs765980369	missense variant	-	NC_000007.14:g.114664274C>G	ExAC,gnomAD
FOXP2	O15409	p.Ala615Thr	rs182138317	missense variant	-	NC_000007.14:g.114664276G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala615Ser	rs182138317	missense variant	-	NC_000007.14:g.114664276G>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ala615Thr	RCV000718769	missense variant	History of neurodevelopmental disorder	NC_000007.14:g.114664276G>A	ClinVar
FOXP2	O15409	p.Ala615Thr	RCV000081638	missense variant	-	NC_000007.14:g.114664276G>A	ClinVar
FOXP2	O15409	p.Ala617Val	rs915879314	missense variant	-	NC_000007.14:g.114664283C>T	TOPMed
FOXP2	O15409	p.Ser619Asn	rs757373725	missense variant	-	NC_000007.14:g.114664289G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser620Asn	rs752426529	missense variant	-	NC_000007.14:g.114664292G>A	ExAC,gnomAD
FOXP2	O15409	p.Pro627Leu	rs758080021	missense variant	-	NC_000007.14:g.114664313C>T	ExAC,gnomAD
FOXP2	O15409	p.Pro627Ser	rs779157210	missense variant	-	NC_000007.14:g.114664312C>T	TOPMed,gnomAD
FOXP2	O15409	p.Gly628Val	rs777560011	missense variant	-	NC_000007.14:g.114664316G>T	ExAC,gnomAD
FOXP2	O15409	p.Ile630Met	rs770923990	missense variant	-	NC_000007.14:g.114664323A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ile630Thr	rs952693445	missense variant	-	NC_000007.14:g.114664322T>C	TOPMed,gnomAD
FOXP2	O15409	p.Ile630Val	rs746884663	missense variant	-	NC_000007.14:g.114664321A>G	ExAC,gnomAD
FOXP2	O15409	p.Asn631Ter	RCV000627494	frameshift	-	NC_000007.14:g.114664321_114664324ATAA[1]	ClinVar
FOXP2	O15409	p.Asn632Tyr	rs1406288053	missense variant	-	NC_000007.14:g.114664327A>T	TOPMed
FOXP2	O15409	p.Ser635Gly	rs1371304452	missense variant	-	NC_000007.14:g.114664336A>G	gnomAD
FOXP2	O15409	p.Gly636Val	rs1291795029	missense variant	-	NC_000007.14:g.114664340G>T	gnomAD
FOXP2	O15409	p.Leu638Pro	rs1230202192	missense variant	-	NC_000007.14:g.114664346T>C	gnomAD
FOXP2	O15409	p.Val641Ile	rs745987986	missense variant	-	NC_000007.14:g.114664354G>A	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu643Gln	rs576347421	missense variant	-	NC_000007.14:g.114664360G>C	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu643Lys	rs576347421	missense variant	-	NC_000007.14:g.114664360G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asp644His	rs763246182	missense variant	-	NC_000007.14:g.114664363G>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn646Asp	rs201084683	missense variant	-	NC_000007.14:g.114664369A>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn646Ser	rs145154396	missense variant	-	NC_000007.14:g.114664370A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Asn646Asp	RCV000153273	missense variant	-	NC_000007.14:g.114664369A>G	ClinVar
FOXP2	O15409	p.Asp650Glu	rs1461838608	missense variant	-	NC_000007.14:g.114664383T>A	TOPMed
FOXP2	O15409	p.His651Arg	rs1459605752	missense variant	-	NC_000007.14:g.114664385A>G	TOPMed,gnomAD
FOXP2	O15409	p.His651Leu	rs1459605752	missense variant	-	NC_000007.14:g.114664385A>T	TOPMed,gnomAD
FOXP2	O15409	p.Ile652Thr	rs377217556	missense variant	-	NC_000007.14:g.114664388T>C	ESP,TOPMed
FOXP2	O15409	p.Ser654Thr	rs768186362	missense variant	-	NC_000007.14:g.114664394G>C	ExAC,gnomAD
FOXP2	O15409	p.Ser654Asn	rs768186362	missense variant	-	NC_000007.14:g.114664394G>A	ExAC,gnomAD
FOXP2	O15409	p.Asn657Lys	rs753356750	missense variant	-	NC_000007.14:g.114664404C>G	ExAC,gnomAD
FOXP2	O15409	p.Pro660Leu	rs562313396	missense variant	-	NC_000007.14:g.114664412C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Gly661Asp	rs529427719	missense variant	-	NC_000007.14:g.114664415G>A	1000Genomes,ExAC,gnomAD
FOXP2	O15409	p.Gly661Asp	RCV000329630	missense variant	Speech-language disorder 1 (SPCH1)	NC_000007.14:g.114664415G>A	ClinVar
FOXP2	O15409	p.Cys662Trp	rs758052155	missense variant	-	NC_000007.14:g.114664419C>G	ExAC,gnomAD
FOXP2	O15409	p.Ser663Thr	rs1294048735	missense variant	-	NC_000007.14:g.114664420T>A	gnomAD
FOXP2	O15409	p.Gln665Arg	rs1355061824	missense variant	-	NC_000007.14:g.114664427A>G	gnomAD
FOXP2	O15409	p.Pro666Arg	rs145254341	missense variant	-	NC_000007.14:g.114664430C>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Pro666Leu	rs145254341	missense variant	-	NC_000007.14:g.114664430C>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.His669Arg	rs1278315350	missense variant	-	NC_000007.14:g.114689784A>G	TOPMed,gnomAD
FOXP2	O15409	p.Ile671Val	rs1394481073	missense variant	-	NC_000007.14:g.114689789A>G	TOPMed,gnomAD
FOXP2	O15409	p.Val673Ile	rs747467925	missense variant	-	NC_000007.14:g.114689795G>A	ExAC,gnomAD
FOXP2	O15409	p.Lys674Glu	rs1385939134	missense variant	-	NC_000007.14:g.114689798A>G	gnomAD
FOXP2	O15409	p.Glu676Lys	rs889341368	missense variant	-	NC_000007.14:g.114689804G>A	TOPMed
FOXP2	O15409	p.Val678Met	rs774842735	missense variant	-	NC_000007.14:g.114689810G>A	ExAC,gnomAD
FOXP2	O15409	p.Val678Leu	rs774842735	missense variant	-	NC_000007.14:g.114689810G>C	ExAC,gnomAD
FOXP2	O15409	p.Ile679Thr	rs1225170530	missense variant	-	NC_000007.14:g.114689814T>C	gnomAD
FOXP2	O15409	p.Ala680Thr	rs763629604	missense variant	-	NC_000007.14:g.114689816G>A	ExAC,gnomAD
FOXP2	O15409	p.Ala680Val	rs1442230907	missense variant	-	NC_000007.14:g.114689817C>T	gnomAD
FOXP2	O15409	p.Asp684Val	rs773947565	missense variant	-	NC_000007.14:g.114689829A>T	ExAC,gnomAD
FOXP2	O15409	p.Met687Val	rs202008325	missense variant	-	NC_000007.14:g.114689837A>G	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Ser688Thr	rs1349469230	missense variant	-	NC_000007.14:g.114689840T>A	TOPMed,gnomAD
FOXP2	O15409	p.Leu689Ser	rs750287608	missense variant	-	NC_000007.14:g.114689844T>C	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Val690Gly	rs755981069	missense variant	-	NC_000007.14:g.114689847T>G	ExAC,gnomAD
FOXP2	O15409	p.Thr691Lys	rs1468750371	missense variant	-	NC_000007.14:g.114689850C>A	gnomAD
FOXP2	O15409	p.Asn694Tyr	rs1251042963	missense variant	-	NC_000007.14:g.114689858A>T	gnomAD
FOXP2	O15409	p.His695Pro	rs928369081	missense variant	-	NC_000007.14:g.114689862A>C	TOPMed,gnomAD
FOXP2	O15409	p.Ser696Gly	rs1452002022	missense variant	-	NC_000007.14:g.114689864A>G	TOPMed
FOXP2	O15409	p.Pro697Leu	rs1184039801	missense variant	-	NC_000007.14:g.114689868C>T	gnomAD
FOXP2	O15409	p.Glu700Asp	rs147624408	missense variant	-	NC_000007.14:g.114689878A>T	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu700Lys	rs753857220	missense variant	-	NC_000007.14:g.114689876G>A	ExAC,gnomAD
FOXP2	O15409	p.Glu700Asp	RCV000357709	missense variant	-	NC_000007.14:g.114689878A>T	ClinVar
FOXP2	O15409	p.Asp701Asn	rs1397056325	missense variant	-	NC_000007.14:g.114689879G>A	gnomAD
FOXP2	O15409	p.Asp702Asn	rs748314629	missense variant	-	NC_000007.14:g.114689882G>A	ExAC,gnomAD
FOXP2	O15409	p.Ile705Val	rs758714987	missense variant	-	NC_000007.14:g.114689891A>G	ExAC,gnomAD
FOXP2	O15409	p.Pro709Leu	rs771314598	missense variant	-	NC_000007.14:g.114689904C>T	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Pro709Thr	rs1236343176	missense variant	-	NC_000007.14:g.114689903C>A	gnomAD
FOXP2	O15409	p.Ser711Phe	rs960747265	missense variant	-	NC_000007.14:g.114689910C>T	TOPMed,gnomAD
FOXP2	O15409	p.Glu712Asp	rs1212829863	missense variant	-	NC_000007.14:g.114689914A>T	gnomAD
FOXP2	O15409	p.Asp713Glu	rs369839969	missense variant	-	NC_000007.14:g.114689917T>A	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu714Pro	rs140766407	missense variant	-	NC_000007.14:g.114689919T>C	ESP,ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Leu714Val	rs746400429	missense variant	-	NC_000007.14:g.114689918C>G	ExAC,TOPMed,gnomAD
FOXP2	O15409	p.Glu715Gly	rs1023491570	missense variant	-	NC_000007.14:g.114689922A>G	TOPMed
INSIG1	O15503	p.Arg3Ile	rs1418116245	missense variant	-	NC_000007.14:g.155298293G>T	gnomAD
INSIG1	O15503	p.Leu4Ter	rs1161259141	stop gained	-	NC_000007.14:g.155298296T>A	gnomAD
INSIG1	O15503	p.Leu4Trp	rs1161259141	missense variant	-	NC_000007.14:g.155298296T>G	gnomAD
INSIG1	O15503	p.His5Arg	rs963954503	missense variant	-	NC_000007.14:g.155298299A>G	TOPMed
INSIG1	O15503	p.Asp6Glu	rs746752379	missense variant	-	NC_000007.14:g.155298303C>A	ExAC,gnomAD
INSIG1	O15503	p.Asp6Tyr	rs777657402	missense variant	-	NC_000007.14:g.155298301G>T	ExAC,gnomAD
INSIG1	O15503	p.Asp6Ala	rs1161652282	missense variant	-	NC_000007.14:g.155298302A>C	TOPMed,gnomAD
INSIG1	O15503	p.Asp6Glu	rs746752379	missense variant	-	NC_000007.14:g.155298303C>G	ExAC,gnomAD
INSIG1	O15503	p.His7Arg	rs1342614207	missense variant	-	NC_000007.14:g.155298305A>G	TOPMed
INSIG1	O15503	p.Trp9Ter	rs11544449	stop gained	-	NC_000007.14:g.155298311G>A	gnomAD
INSIG1	O15503	p.Trp9Cys	rs1395941774	missense variant	-	NC_000007.14:g.155298312G>C	TOPMed
INSIG1	O15503	p.Trp9Leu	rs11544449	missense variant	-	NC_000007.14:g.155298311G>T	gnomAD
INSIG1	O15503	p.Ser12Cys	rs752068072	missense variant	-	NC_000007.14:g.155298320C>G	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Cys13Ter	rs768727914	stop gained	-	NC_000007.14:g.155298324T>A	ExAC,gnomAD
INSIG1	O15503	p.Cys13Ser	rs373395354	missense variant	-	NC_000007.14:g.155298322T>A	ESP,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ala14Ser	rs1466887645	missense variant	-	NC_000007.14:g.155298325G>T	TOPMed
INSIG1	O15503	p.His15Arg	rs1166933943	missense variant	-	NC_000007.14:g.155298329A>G	TOPMed
INSIG1	O15503	p.His15Tyr	rs748711429	missense variant	-	NC_000007.14:g.155298328C>T	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Arg19Pro	rs1356048453	missense variant	-	NC_000007.14:g.155298341G>C	gnomAD
INSIG1	O15503	p.Arg20Gln	rs896185421	missense variant	-	NC_000007.14:g.155298344G>A	TOPMed,gnomAD
INSIG1	O15503	p.Gly21Val	rs951081544	missense variant	-	NC_000007.14:g.155298347G>T	gnomAD
INSIG1	O15503	p.Pro22Arg	rs773664641	missense variant	-	NC_000007.14:g.155298350C>G	ExAC,gnomAD
INSIG1	O15503	p.Pro22Ala	rs772417804	missense variant	-	NC_000007.14:g.155298349C>G	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Pro23Ser	rs1257535476	missense variant	-	NC_000007.14:g.155298352C>T	gnomAD
INSIG1	O15503	p.Pro23Leu	rs760923827	missense variant	-	NC_000007.14:g.155298353C>T	ExAC
INSIG1	O15503	p.Arg24Gly	rs766189055	missense variant	-	NC_000007.14:g.155298355C>G	ExAC,gnomAD
INSIG1	O15503	p.Arg24Gln	rs1184909326	missense variant	-	NC_000007.14:g.155298356G>A	gnomAD
INSIG1	O15503	p.Ser26Arg	rs1377830446	missense variant	-	NC_000007.14:g.155298363C>G	gnomAD
INSIG1	O15503	p.Ala27Thr	rs1129825	missense variant	-	NC_000007.14:g.155298364G>A	-
INSIG1	O15503	p.Ala27Thr	rs1129825	missense variant	-	NC_000007.14:g.155298364G>A	UniProt,dbSNP
INSIG1	O15503	p.Ala27Thr	VAR_027683	missense variant	-	NC_000007.14:g.155298364G>A	UniProt
INSIG1	O15503	p.Ala27Val	rs1434744508	missense variant	-	NC_000007.14:g.155298365C>T	TOPMed,gnomAD
INSIG1	O15503	p.Ala28Val	rs1367722240	missense variant	-	NC_000007.14:g.155298368C>T	TOPMed,gnomAD
INSIG1	O15503	p.Ala31Val	rs1388248807	missense variant	-	NC_000007.14:g.155298377C>T	gnomAD
INSIG1	O15503	p.Ala31Thr	rs762445916	missense variant	-	NC_000007.14:g.155298376G>A	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ala32Gly	rs764867200	missense variant	-	NC_000007.14:g.155298380C>G	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Lys33Arg	rs752113166	missense variant	-	NC_000007.14:g.155298383A>G	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Val34Ile	rs758403899	missense variant	-	NC_000007.14:g.155298385G>A	ExAC,gnomAD
INSIG1	O15503	p.Val34Ala	rs1358973756	missense variant	-	NC_000007.14:g.155298386T>C	TOPMed
INSIG1	O15503	p.Gly35Trp	rs199524513	missense variant	-	NC_000007.14:g.155298388G>T	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Glu36Asp	COSM4834219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155298393G>C	NCI-TCGA Cosmic
INSIG1	O15503	p.Glu36Lys	rs1340304058	missense variant	-	NC_000007.14:g.155298391G>A	TOPMed,gnomAD
INSIG1	O15503	p.Met37Ile	rs1229591246	missense variant	-	NC_000007.14:g.155298396G>A	gnomAD
INSIG1	O15503	p.Asn39Lys	rs1300189272	missense variant	-	NC_000007.14:g.155298402C>A	gnomAD
INSIG1	O15503	p.Val40Ile	rs1340677254	missense variant	-	NC_000007.14:g.155298403G>A	gnomAD
INSIG1	O15503	p.Ser43Phe	rs1228250112	missense variant	-	NC_000007.14:g.155298413C>T	gnomAD
INSIG1	O15503	p.Pro45Ser	rs376046556	missense variant	-	NC_000007.14:g.155298418C>T	gnomAD
INSIG1	O15503	p.Ala49Val	rs369178429	missense variant	-	NC_000007.14:g.155298431C>T	ExAC,gnomAD
INSIG1	O15503	p.His51Gln	rs928416631	missense variant	-	NC_000007.14:g.155298438C>A	TOPMed,gnomAD
INSIG1	O15503	p.Ala53Val	rs1190283045	missense variant	-	NC_000007.14:g.155298443C>T	gnomAD
INSIG1	O15503	p.Ala53Ser	rs780898112	missense variant	-	NC_000007.14:g.155298442G>T	ExAC,gnomAD
INSIG1	O15503	p.Pro54Ala	rs1407846667	missense variant	-	NC_000007.14:g.155298445C>G	TOPMed
INSIG1	O15503	p.Pro54Leu	rs1415715026	missense variant	-	NC_000007.14:g.155298446C>T	TOPMed
INSIG1	O15503	p.Asp55Glu	rs1448820452	missense variant	-	NC_000007.14:g.155298450C>A	gnomAD
INSIG1	O15503	p.Ala56Thr	rs989193457	missense variant	-	NC_000007.14:g.155298451G>A	TOPMed,gnomAD
INSIG1	O15503	p.Asp57Glu	rs755144116	missense variant	-	NC_000007.14:g.155298456C>G	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Asp57Glu	rs755144116	missense variant	-	NC_000007.14:g.155298456C>A	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ala59Val	rs567098938	missense variant	-	NC_000007.14:g.155298461C>T	ExAC,gnomAD
INSIG1	O15503	p.Arg61Lys	rs772680330	missense variant	-	NC_000007.14:g.155298467G>A	ExAC,gnomAD
INSIG1	O15503	p.Arg61Thr	rs772680330	missense variant	-	NC_000007.14:g.155298467G>C	ExAC,gnomAD
INSIG1	O15503	p.Arg63Leu	rs773576456	missense variant	-	NC_000007.14:g.155298473G>T	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Arg63His	rs773576456	missense variant	-	NC_000007.14:g.155298473G>A	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ser64Asn	rs771423871	missense variant	-	NC_000007.14:g.155298476G>A	ExAC,gnomAD
INSIG1	O15503	p.Ala65Val	rs992348599	missense variant	-	NC_000007.14:g.155298479C>T	TOPMed,gnomAD
INSIG1	O15503	p.Ala65Thr	rs1435064549	missense variant	-	NC_000007.14:g.155298478G>A	gnomAD
INSIG1	O15503	p.Ala66Val	rs1313501864	missense variant	-	NC_000007.14:g.155298482C>T	gnomAD
INSIG1	O15503	p.Glu71Lys	rs759297214	missense variant	-	NC_000007.14:g.155298496G>A	ExAC,gnomAD
INSIG1	O15503	p.Glu71Ter	rs759297214	stop gained	-	NC_000007.14:g.155298496G>T	ExAC,gnomAD
INSIG1	O15503	p.Glu71Asp	rs1453474977	missense variant	-	NC_000007.14:g.155298498G>C	TOPMed
INSIG1	O15503	p.Gly73Arg	rs1464253252	missense variant	-	NC_000007.14:g.155298502G>C	gnomAD
INSIG1	O15503	p.Ser74Ile	rs775118067	missense variant	-	NC_000007.14:g.155298506G>T	ExAC,gnomAD
INSIG1	O15503	p.Pro75Leu	rs762357555	missense variant	-	NC_000007.14:g.155298509C>T	ExAC,gnomAD
INSIG1	O15503	p.Pro75Ser	rs1431302565	missense variant	-	NC_000007.14:g.155298508C>T	gnomAD
INSIG1	O15503	p.Tyr76Cys	rs764160755	missense variant	-	NC_000007.14:g.155298512A>G	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Asn78Tyr	rs761681762	missense variant	-	NC_000007.14:g.155298517A>T	ExAC,gnomAD
INSIG1	O15503	p.Thr79Ser	rs371087646	missense variant	-	NC_000007.14:g.155298521C>G	ESP,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Thr79Ile	rs371087646	missense variant	-	NC_000007.14:g.155298521C>T	ESP,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.His82Tyr	rs199932909	missense variant	-	NC_000007.14:g.155298529C>T	1000Genomes,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Arg83Gly	rs1385541141	missense variant	-	NC_000007.14:g.155298532C>G	TOPMed,gnomAD
INSIG1	O15503	p.Arg83Leu	rs755231844	missense variant	-	NC_000007.14:g.155298533G>T	ExAC,gnomAD
INSIG1	O15503	p.Arg83His	rs755231844	missense variant	-	NC_000007.14:g.155298533G>A	ExAC,gnomAD
INSIG1	O15503	p.Arg83Cys	rs1385541141	missense variant	-	NC_000007.14:g.155298532C>T	TOPMed,gnomAD
INSIG1	O15503	p.Leu85Met	rs373597330	missense variant	-	NC_000007.14:g.155298538T>A	ESP,TOPMed
INSIG1	O15503	p.Ser88Asn	rs1265830529	missense variant	-	NC_000007.14:g.155298548G>A	gnomAD
INSIG1	O15503	p.Ser88Ile	rs1265830529	missense variant	-	NC_000007.14:g.155298548G>T	gnomAD
INSIG1	O15503	p.Leu91Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155298557T>G	NCI-TCGA
INSIG1	O15503	p.Phe92Leu	NCI-TCGA novel	inframe deletion	-	NC_000007.14:g.155298561_155298563CTC>-	NCI-TCGA
INSIG1	O15503	p.Val94Ile	rs1266928472	missense variant	-	NC_000007.14:g.155298565G>A	gnomAD
INSIG1	O15503	p.Val96Leu	rs1487476793	missense variant	-	NC_000007.14:g.155298571G>T	gnomAD
INSIG1	O15503	p.Val96Gly	rs1179233992	missense variant	-	NC_000007.14:g.155298572T>G	gnomAD
INSIG1	O15503	p.Leu98Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155298578T>G	NCI-TCGA
INSIG1	O15503	p.Leu102Pro	rs1472350480	missense variant	-	NC_000007.14:g.155298590T>C	gnomAD
INSIG1	O15503	p.Leu102Phe	rs925490014	missense variant	-	NC_000007.14:g.155298589C>T	TOPMed
INSIG1	O15503	p.Asn103Ile	rs746215366	missense variant	-	NC_000007.14:g.155298593A>T	ExAC,gnomAD
INSIG1	O15503	p.Asn103His	rs911097384	missense variant	-	NC_000007.14:g.155298592A>C	TOPMed
INSIG1	O15503	p.Gln108Glu	rs202184874	missense variant	-	NC_000007.14:g.155298607C>G	1000Genomes
INSIG1	O15503	p.Gln108Arg	rs1456872000	missense variant	-	NC_000007.14:g.155298608A>G	gnomAD
INSIG1	O15503	p.Val111Ala	rs200641765	missense variant	-	NC_000007.14:g.155298617T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Thr112Ile	rs762601697	missense variant	-	NC_000007.14:g.155298620C>T	ExAC,gnomAD
INSIG1	O15503	p.Thr112Ala	rs1175514792	missense variant	-	NC_000007.14:g.155298619A>G	TOPMed
INSIG1	O15503	p.Glu116Asp	rs773861240	missense variant	-	NC_000007.14:g.155298633G>C	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Glu117Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155298634G>A	NCI-TCGA
INSIG1	O15503	p.Val118Met	rs761769847	missense variant	-	NC_000007.14:g.155298637G>A	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ile119Met	rs760447154	missense variant	-	NC_000007.14:g.155298642C>G	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ile119Phe	rs750266191	missense variant	-	NC_000007.14:g.155298640A>T	ExAC,gnomAD
INSIG1	O15503	p.Ala120Ser	rs765559868	missense variant	-	NC_000007.14:g.155298643G>T	ExAC,gnomAD
INSIG1	O15503	p.Ile122Val	rs143931518	missense variant	-	NC_000007.14:g.155298649A>G	ESP,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ser124Ala	rs758584360	missense variant	-	NC_000007.14:g.155298655T>G	ExAC,gnomAD
INSIG1	O15503	p.Ser125Phe	rs1182629652	missense variant	-	NC_000007.14:g.155298659C>T	gnomAD
INSIG1	O15503	p.Ser125Pro	rs1480444374	missense variant	-	NC_000007.14:g.155298658T>C	gnomAD
INSIG1	O15503	p.Trp127Ter	rs1422416569	stop gained	-	NC_000007.14:g.155298666G>A	gnomAD
INSIG1	O15503	p.Val129Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155298671T>G	NCI-TCGA
INSIG1	O15503	p.Pro130Leu	rs1163583421	missense variant	-	NC_000007.14:g.155298674C>T	TOPMed,gnomAD
INSIG1	O15503	p.Gly134Val	rs896145760	missense variant	-	NC_000007.14:g.155298686G>T	TOPMed
INSIG1	O15503	p.Ala136Val	rs1305663435	missense variant	-	NC_000007.14:g.155298692C>T	gnomAD
INSIG1	O15503	p.Ala137Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155298694G>A	NCI-TCGA
INSIG1	O15503	p.Ala138Thr	rs1448351632	missense variant	-	NC_000007.14:g.155298697G>A	gnomAD
INSIG1	O15503	p.Gly141Val	rs201333521	missense variant	-	NC_000007.14:g.155301575G>T	1000Genomes
INSIG1	O15503	p.Cys146Tyr	rs763128502	missense variant	-	NC_000007.14:g.155301590G>A	ExAC,gnomAD
INSIG1	O15503	p.Cys146Arg	rs776434139	missense variant	-	NC_000007.14:g.155301589T>C	ExAC,gnomAD
INSIG1	O15503	p.Ser149Gly	rs1187004218	missense variant	-	NC_000007.14:g.155301598A>G	gnomAD
INSIG1	O15503	p.Gly152Arg	rs757412249	missense variant	-	NC_000007.14:g.155301607G>A	ExAC,gnomAD
INSIG1	O15503	p.Pro154Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155301614C>T	NCI-TCGA
INSIG1	O15503	p.His155Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155301617A>G	NCI-TCGA
INSIG1	O15503	p.Lys156Gln	rs972230362	missense variant	-	NC_000007.14:g.155301619A>C	TOPMed
INSIG1	O15503	p.Arg159Thr	COSM123756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155301629G>C	NCI-TCGA Cosmic
INSIG1	O15503	p.Glu160Ter	rs767640062	stop gained	-	NC_000007.14:g.155301631G>T	ExAC,gnomAD
INSIG1	O15503	p.Glu160Gln	rs767640062	missense variant	-	NC_000007.14:g.155301631G>C	ExAC,gnomAD
INSIG1	O15503	p.Met165Leu	rs1210098134	missense variant	-	NC_000007.14:g.155301646A>T	TOPMed
INSIG1	O15503	p.Met165Thr	rs1355259052	missense variant	-	NC_000007.14:g.155301647T>C	TOPMed
INSIG1	O15503	p.Arg166His	rs750982948	missense variant	-	NC_000007.14:g.155301650G>A	ExAC,gnomAD
INSIG1	O15503	p.Arg166Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155301650G>T	NCI-TCGA
INSIG1	O15503	p.Ile168Met	rs115964577	missense variant	-	NC_000007.14:g.155301657A>G	1000Genomes,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Val172Phe	rs1230066993	missense variant	-	NC_000007.14:g.155301667G>T	TOPMed
INSIG1	O15503	p.Gly173Val	rs116076329	missense variant	-	NC_000007.14:g.155301671G>T	1000Genomes,gnomAD
INSIG1	O15503	p.Gly173Asp	rs116076329	missense variant	-	NC_000007.14:g.155301671G>A	1000Genomes,gnomAD
INSIG1	O15503	p.Ala177Thr	rs749633375	missense variant	-	NC_000007.14:g.155301682G>A	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ala179Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155301689C>T	NCI-TCGA
INSIG1	O15503	p.Asp182Tyr	rs754211515	missense variant	-	NC_000007.14:g.155302257G>T	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Leu191Phe	rs1230336149	missense variant	-	NC_000007.14:g.155302286G>T	gnomAD
INSIG1	O15503	p.Gly199Asp	COSM4926681	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155302309G>A	NCI-TCGA Cosmic
INSIG1	O15503	p.Leu200Phe	rs747810129	missense variant	-	NC_000007.14:g.155302311C>T	ExAC,gnomAD
INSIG1	O15503	p.Thr203Ile	rs757992959	missense variant	-	NC_000007.14:g.155302321C>T	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Arg206Cys	rs527701821	missense variant	-	NC_000007.14:g.155302329C>T	-
INSIG1	O15503	p.Arg206His	rs548930206	missense variant	-	NC_000007.14:g.155302330G>A	ExAC,gnomAD
INSIG1	O15503	p.Ser207Thr	rs770836270	missense variant	-	NC_000007.14:g.155302332T>A	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ala218Thr	rs1398230061	missense variant	-	NC_000007.14:g.155302365G>A	-
INSIG1	O15503	p.Leu220Val	COSM745747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155302371C>G	NCI-TCGA Cosmic
INSIG1	O15503	p.Thr222Met	rs769646258	missense variant	-	NC_000007.14:g.155302378C>T	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ile224Ser	rs1389700620	missense variant	-	NC_000007.14:g.155302384T>G	gnomAD
INSIG1	O15503	p.Ile224Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155302384T>C	NCI-TCGA
INSIG1	O15503	p.Ile224Val	rs1278784292	missense variant	-	NC_000007.14:g.155302383A>G	TOPMed
INSIG1	O15503	p.Thr225Met	rs142687202	missense variant	-	NC_000007.14:g.155302387C>T	ESP,ExAC,gnomAD
INSIG1	O15503	p.Gln226His	rs567627468	missense variant	-	NC_000007.14:g.155302391G>C	TOPMed,gnomAD
INSIG1	O15503	p.Phe227Leu	rs760796100	missense variant	-	NC_000007.14:g.155302394T>G	ExAC,gnomAD
INSIG1	O15503	p.Phe227Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155302393T>G	NCI-TCGA
INSIG1	O15503	p.Val229Met	rs200756620	missense variant	-	NC_000007.14:g.155302398G>A	1000Genomes,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Val229Leu	rs200756620	missense variant	-	NC_000007.14:g.155302398G>T	1000Genomes,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Val229Leu	rs200756620	missense variant	-	NC_000007.14:g.155302398G>C	1000Genomes,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Val233Ala	rs765610318	missense variant	-	NC_000007.14:g.155302411T>C	ExAC,gnomAD
INSIG1	O15503	p.Tyr234Cys	rs116500782	missense variant	-	NC_000007.14:g.155302414A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Thr237Ile	rs1210422745	missense variant	-	NC_000007.14:g.155302752C>T	TOPMed
INSIG1	O15503	p.Thr237Ala	rs1245965554	missense variant	-	NC_000007.14:g.155302751A>G	gnomAD
INSIG1	O15503	p.Leu242Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155302766C>T	NCI-TCGA
INSIG1	O15503	p.Arg245Cys	rs376290152	missense variant	-	NC_000007.14:g.155302775C>T	ESP,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Ser246Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155302779C>A	NCI-TCGA
INSIG1	O15503	p.Leu248Ile	COSM3879730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155302784C>A	NCI-TCGA Cosmic
INSIG1	O15503	p.Pro249Leu	COSM300701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155302788C>T	NCI-TCGA Cosmic
INSIG1	O15503	p.Ile251Met	COSM485116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155302795A>G	NCI-TCGA Cosmic
INSIG1	O15503	p.Phe252Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155302796T>A	NCI-TCGA
INSIG1	O15503	p.Phe253Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155302801C>A	NCI-TCGA
INSIG1	O15503	p.Phe253Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155302799T>G	NCI-TCGA
INSIG1	O15503	p.Gly255Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155302806G>A	NCI-TCGA
INSIG1	O15503	p.Val257Ile	rs780785188	missense variant	-	NC_000007.14:g.155302811G>A	ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Thr258Met	rs1162539615	missense variant	-	NC_000007.14:g.155302815C>T	TOPMed,gnomAD
INSIG1	O15503	p.Arg264Ter	rs1383243939	stop gained	-	NC_000007.14:g.155302832C>T	gnomAD
INSIG1	O15503	p.Met268Ile	COSM745746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155302846G>A	NCI-TCGA Cosmic
INSIG1	O15503	p.Met268Val	rs756170771	missense variant	-	NC_000007.14:g.155302844A>G	ExAC,gnomAD
INSIG1	O15503	p.Gly269Cys	rs766006782	missense variant	-	NC_000007.14:g.155308241G>T	ExAC,gnomAD
INSIG1	O15503	p.Val270Ala	rs753354869	missense variant	-	NC_000007.14:g.155308245T>C	ExAC,gnomAD
INSIG1	O15503	p.Pro271Ser	rs375048290	missense variant	-	NC_000007.14:g.155308247C>T	ESP,ExAC,TOPMed,gnomAD
INSIG1	O15503	p.Pro274Ser	rs1210954558	missense variant	-	NC_000007.14:g.155308256C>T	gnomAD
INSIG1	O15503	p.Pro274AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.155308250_155308251insA	NCI-TCGA
INSIG1	O15503	p.Ter278Trp	rs765060506	stop lost	-	NC_000007.14:g.155308270A>G	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Trp2Ser	rs199671312	missense variant	-	NC_000005.10:g.44388678C>G	-
FGF10	O15520	p.Trp2Cys	rs1347979233	missense variant	-	NC_000005.10:g.44388677C>A	gnomAD
FGF10	O15520	p.Ile5Thr	rs1441196548	missense variant	-	NC_000005.10:g.44388669A>G	TOPMed
FGF10	O15520	p.Ile5Arg	COSM3855396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388669A>C	NCI-TCGA Cosmic
FGF10	O15520	p.Leu6Pro	rs201659493	missense variant	-	NC_000005.10:g.44388666A>G	gnomAD
FGF10	O15520	p.Leu6Val	rs747476439	missense variant	-	NC_000005.10:g.44388667G>C	ExAC,gnomAD
FGF10	O15520	p.Leu6Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388667G>T	NCI-TCGA
FGF10	O15520	p.Thr7Ile	rs200886626	missense variant	-	NC_000005.10:g.44388663G>A	ExAC,gnomAD
FGF10	O15520	p.Ala10Val	rs1402567148	missense variant	-	NC_000005.10:g.44388654G>A	TOPMed,gnomAD
FGF10	O15520	p.Ser11Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.44388651G>C	NCI-TCGA
FGF10	O15520	p.Pro14Leu	rs148032639	missense variant	-	NC_000005.10:g.44388642G>A	ESP,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Pro14Ser	rs754826334	missense variant	-	NC_000005.10:g.44388643G>A	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Leu16Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388636A>T	NCI-TCGA
FGF10	O15520	p.Pro17Thr	rs374755098	missense variant	-	NC_000005.10:g.44388634G>T	ESP,ExAC,gnomAD
FGF10	O15520	p.Pro17Ser	rs374755098	missense variant	-	NC_000005.10:g.44388634G>A	ESP,ExAC,gnomAD
FGF10	O15520	p.Gly18Ser	rs766989043	missense variant	-	NC_000005.10:g.44388631C>T	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Gly18Cys	rs766989043	missense variant	-	NC_000005.10:g.44388631C>A	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Gly18Val	rs201408864	missense variant	-	NC_000005.10:g.44388630C>A	gnomAD
FGF10	O15520	p.Cys19Gly	rs761359401	missense variant	-	NC_000005.10:g.44388628A>C	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Cys21Tyr	rs1272336613	missense variant	-	NC_000005.10:g.44388621C>T	gnomAD
FGF10	O15520	p.Cys22Arg	rs200247528	missense variant	-	NC_000005.10:g.44388619A>G	1000Genomes,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Leu26Trp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388606A>C	NCI-TCGA
FGF10	O15520	p.Leu27Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388604G>T	NCI-TCGA
FGF10	O15520	p.Phe28Leu	rs199806461	missense variant	-	NC_000005.10:g.44388599G>T	-
FGF10	O15520	p.Leu29Trp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388597A>C	NCI-TCGA
FGF10	O15520	p.Val30Met	rs1284421241	missense variant	-	NC_000005.10:g.44388595C>T	gnomAD
FGF10	O15520	p.Val30Ala	rs1223515236	missense variant	-	NC_000005.10:g.44388594A>G	gnomAD
FGF10	O15520	p.Ser31Thr	rs762625065	missense variant	-	NC_000005.10:g.44388592A>T	ExAC,gnomAD
FGF10	O15520	p.Ser31Phe	COSM1068457	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388591G>A	NCI-TCGA Cosmic
FGF10	O15520	p.Val33Ile	rs145373611	missense variant	-	NC_000005.10:g.44388586C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Val35Ala	rs1007631855	missense variant	-	NC_000005.10:g.44388579A>G	TOPMed,gnomAD
FGF10	O15520	p.Thr36Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388576G>C	NCI-TCGA
FGF10	O15520	p.Cys37Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388573C>T	NCI-TCGA
FGF10	O15520	p.Ala39Val	rs201790067	missense variant	-	NC_000005.10:g.44388567G>A	ExAC,gnomAD
FGF10	O15520	p.Leu40Phe	rs146669375	missense variant	-	NC_000005.10:g.44388565G>A	ESP,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Leu40Val	rs146669375	missense variant	-	NC_000005.10:g.44388565G>C	ESP,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Leu40Ile	COSM1496129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388565G>T	NCI-TCGA Cosmic
FGF10	O15520	p.Gly41Asp	rs772109862	missense variant	-	NC_000005.10:g.44388561C>T	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Gln42Leu	rs1429390732	missense variant	-	NC_000005.10:g.44388558T>A	gnomAD
FGF10	O15520	p.Asp43Gly	rs1409855200	missense variant	-	NC_000005.10:g.44388555T>C	TOPMed,gnomAD
FGF10	O15520	p.Asp43Asn	rs778802173	missense variant	-	NC_000005.10:g.44388556C>T	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Asp43Tyr	rs778802173	missense variant	-	NC_000005.10:g.44388556C>A	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Met44Thr	rs779848984	missense variant	-	NC_000005.10:g.44388552A>G	ExAC,gnomAD
FGF10	O15520	p.Met44Val	rs201168313	missense variant	-	NC_000005.10:g.44388553T>C	1000Genomes,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Met44Leu	rs201168313	missense variant	-	NC_000005.10:g.44388553T>G	1000Genomes,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Val45Glu	rs1232465320	missense variant	-	NC_000005.10:g.44388549A>T	TOPMed,gnomAD
FGF10	O15520	p.Ser46Leu	rs750371676	missense variant	-	NC_000005.10:g.44388546G>A	ExAC,gnomAD
FGF10	O15520	p.Pro47Ser	rs527933059	missense variant	-	NC_000005.10:g.44388544G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Ala49Val	rs751081612	missense variant	-	NC_000005.10:g.44388537G>A	ExAC,gnomAD
FGF10	O15520	p.Ala49Gly	rs751081612	missense variant	-	NC_000005.10:g.44388537G>C	ExAC,gnomAD
FGF10	O15520	p.Ala49Asp	rs751081612	missense variant	-	NC_000005.10:g.44388537G>T	ExAC,gnomAD
FGF10	O15520	p.Ala49Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388538C>T	NCI-TCGA
FGF10	O15520	p.Thr50Ser	rs144567587	missense variant	-	NC_000005.10:g.44388535T>A	ESP,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Ser52Tyr	rs775259892	missense variant	-	NC_000005.10:g.44388528G>T	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Ser52Thr	rs762714965	missense variant	-	NC_000005.10:g.44388529A>T	ExAC,gnomAD
FGF10	O15520	p.Ser52Cys	rs775259892	missense variant	-	NC_000005.10:g.44388528G>C	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Ser53Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388526A>G	NCI-TCGA
FGF10	O15520	p.Ser54Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388522G>A	NCI-TCGA
FGF10	O15520	p.Ser55Phe	COSM3616762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388519G>A	NCI-TCGA Cosmic
FGF10	O15520	p.Phe57Leu	rs773650137	missense variant	-	NC_000005.10:g.44388512G>C	ExAC,gnomAD
FGF10	O15520	p.Phe57Val	rs761116992	missense variant	-	NC_000005.10:g.44388514A>C	ExAC,gnomAD
FGF10	O15520	p.Ser58Tyr	rs1462552463	missense variant	-	NC_000005.10:g.44388510G>T	TOPMed
FGF10	O15520	p.Ser59Phe	rs201038841	missense variant	-	NC_000005.10:g.44388507G>A	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Ser59Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388507G>T	NCI-TCGA
FGF10	O15520	p.Pro60Arg	rs199850745	missense variant	-	NC_000005.10:g.44388504G>C	TOPMed
FGF10	O15520	p.Pro60His	rs199850745	missense variant	-	NC_000005.10:g.44388504G>T	TOPMed
FGF10	O15520	p.Pro60Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388505G>T	NCI-TCGA
FGF10	O15520	p.Ser61Phe	rs774523215	missense variant	-	NC_000005.10:g.44388501G>A	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Ser61Cys	rs774523215	missense variant	-	NC_000005.10:g.44388501G>C	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Ser62Arg	rs886060654	missense variant	-	NC_000005.10:g.44388497G>T	gnomAD
FGF10	O15520	p.Ser62Gly	rs898009871	missense variant	-	NC_000005.10:g.44388499T>C	TOPMed,gnomAD
FGF10	O15520	p.Ser62Arg	rs886060654	missense variant	-	NC_000005.10:g.44388497G>C	gnomAD
FGF10	O15520	p.Ser62Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388498C>T	NCI-TCGA
FGF10	O15520	p.Gly64Val	rs201676495	missense variant	-	NC_000005.10:g.44388492C>A	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Gly64Arg	rs1446723373	missense variant	-	NC_000005.10:g.44388493C>T	gnomAD
FGF10	O15520	p.Arg65Ser	rs1203071781	missense variant	-	NC_000005.10:g.44388488C>A	gnomAD
FGF10	O15520	p.His66Tyr	rs562084259	missense variant	-	NC_000005.10:g.44388487G>A	1000Genomes
FGF10	O15520	p.Arg68Gln	COSM1437687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388480C>T	NCI-TCGA Cosmic
FGF10	O15520	p.Ser69Asn	rs780222015	missense variant	-	NC_000005.10:g.44388477C>T	ExAC,gnomAD
FGF10	O15520	p.Asn71Ser	rs541818263	missense variant	-	NC_000005.10:g.44388471T>C	1000Genomes,ExAC,TOPMed,gnomAD
FGF10	O15520	p.His72Tyr	rs745684641	missense variant	-	NC_000005.10:g.44388469G>A	ExAC,gnomAD
FGF10	O15520	p.Asp76Glu	rs199689272	missense variant	-	NC_000005.10:g.44388455A>T	1000Genomes,ExAC
FGF10	O15520	p.Trp79Gly	COSM3855394	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388448A>C	NCI-TCGA Cosmic
FGF10	O15520	p.Arg80Ser	rs104893888	missense variant	-	NC_000005.10:g.44388443T>G	TOPMed
FGF10	O15520	p.Arg80Ile	COSM1437686	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388444C>A	NCI-TCGA Cosmic
FGF10	O15520	p.Leu82Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388439G>T	NCI-TCGA
FGF10	O15520	p.Ser84PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.44388431_44388432AG>-	NCI-TCGA
FGF10	O15520	p.Thr86Ile	COSM449707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388426G>A	NCI-TCGA Cosmic
FGF10	O15520	p.Lys87Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388422C>A	NCI-TCGA
FGF10	O15520	p.Tyr88ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.44388421A>-	NCI-TCGA
FGF10	O15520	p.Leu90Val	rs757950282	missense variant	-	NC_000005.10:g.44388415G>C	ExAC,gnomAD
FGF10	O15520	p.Leu90Ile	COSM3429485	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388415G>T	NCI-TCGA Cosmic
FGF10	O15520	p.Lys91Arg	rs752464185	missense variant	-	NC_000005.10:g.44388411T>C	ExAC,gnomAD
FGF10	O15520	p.Ile92Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388407A>C	NCI-TCGA
FGF10	O15520	p.Glu93Val	rs1258016531	missense variant	-	NC_000005.10:g.44388405T>A	TOPMed
FGF10	O15520	p.Glu93Asp	COSM6171277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388404C>G	NCI-TCGA Cosmic
FGF10	O15520	p.Asn95Lys	rs1363470725	missense variant	-	NC_000005.10:g.44388398G>C	gnomAD
FGF10	O15520	p.Lys97Glu	rs1274894561	missense variant	-	NC_000005.10:g.44388394T>C	TOPMed,gnomAD
FGF10	O15520	p.Ser99Asn	rs764969764	missense variant	-	NC_000005.10:g.44388387C>T	ExAC,gnomAD
FGF10	O15520	p.Ser99Arg	rs759054084	missense variant	-	NC_000005.10:g.44388386G>T	ExAC,gnomAD
FGF10	O15520	p.Gly100Arg	COSM4413111	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44388385C>T	NCI-TCGA Cosmic
FGF10	O15520	p.Asn105Ser	rs1428980854	missense variant	-	NC_000005.10:g.44388369T>C	TOPMed
FGF10	O15520	p.Asn105Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388368G>C	NCI-TCGA
FGF10	O15520	p.Cys106Phe	rs104893885	missense variant	Lacrimo-auriculo-dento-digital syndrome (LADDS)	NC_000005.10:g.44388366C>A	UniProt,dbSNP
FGF10	O15520	p.Cys106Phe	VAR_029888	missense variant	Lacrimo-auriculo-dento-digital syndrome (LADDS)	NC_000005.10:g.44388366C>A	UniProt
FGF10	O15520	p.Cys106Phe	rs104893885	missense variant	-	NC_000005.10:g.44388366C>A	-
FGF10	O15520	p.Pro107Arg	rs200701392	missense variant	-	NC_000005.10:g.44388363G>C	TOPMed,gnomAD
FGF10	O15520	p.Pro107Leu	rs200701392	missense variant	-	NC_000005.10:g.44388363G>A	TOPMed,gnomAD
FGF10	O15520	p.Pro107Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44388364G>T	NCI-TCGA
FGF10	O15520	p.Tyr108His	rs1183240121	missense variant	-	NC_000005.10:g.44388361A>G	gnomAD
FGF10	O15520	p.Ser109Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44310530C>A	NCI-TCGA
FGF10	O15520	p.Ile110SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.44310527_44310528insATAGC	NCI-TCGA
FGF10	O15520	p.Leu111GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.44310525_44310526insACACC	NCI-TCGA
FGF10	O15520	p.Glu112Trp	NCI-TCGA novel	insertion	-	NC_000005.10:g.44310519_44310520insCCA	NCI-TCGA
FGF10	O15520	p.Ile113Met	rs1207676419	missense variant	-	NC_000005.10:g.44310517T>C	TOPMed,gnomAD
FGF10	O15520	p.Val116Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44310510C>A	NCI-TCGA
FGF10	O15520	p.Ile118Met	rs201385181	missense variant	-	NC_000005.10:g.44310502G>C	1000Genomes,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Gly119Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.44310501C>A	NCI-TCGA
FGF10	O15520	p.Val120Ile	rs769710686	missense variant	-	NC_000005.10:g.44310498C>T	ExAC,gnomAD
FGF10	O15520	p.Ala122Thr	rs1225998924	missense variant	-	NC_000005.10:g.44310492C>T	gnomAD
FGF10	O15520	p.Val123Ile	rs776683911	missense variant	-	NC_000005.10:g.44310489C>T	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Val123Ala	rs1467091511	missense variant	-	NC_000005.10:g.44310488A>G	TOPMed
FGF10	O15520	p.Ser128Asn	COSM1207048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44310473C>T	NCI-TCGA Cosmic
FGF10	O15520	p.Tyr130Cys	rs145888320	missense variant	-	NC_000005.10:g.44310467T>C	ESP,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Leu132Val	COSM3855392	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44310462A>C	NCI-TCGA Cosmic
FGF10	O15520	p.Met134Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44310454C>T	NCI-TCGA
FGF10	O15520	p.Met134Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44310454C>A	NCI-TCGA
FGF10	O15520	p.Asn135Ser	rs746766662	missense variant	-	NC_000005.10:g.44310452T>C	ExAC,gnomAD
FGF10	O15520	p.Lys136Asn	rs1398855772	missense variant	-	NC_000005.10:g.44310448C>G	gnomAD
FGF10	O15520	p.Lys137Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44310447T>C	NCI-TCGA
FGF10	O15520	p.Gly138Arg	rs866583243	missense variant	-	NC_000005.10:g.44310444C>T	-
FGF10	O15520	p.Gly138Arg	rs866583243	missense variant	-	NC_000005.10:g.44310444C>T	NCI-TCGA
FGF10	O15520	p.Ser143Leu	rs1421578299	missense variant	-	NC_000005.10:g.44310428G>A	gnomAD
FGF10	O15520	p.Lys144Ter	COSM5682558	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.44305192T>A	NCI-TCGA Cosmic
FGF10	O15520	p.Asp149Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305177C>T	NCI-TCGA
FGF10	O15520	p.Lys151Thr	COSM1068455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44305170T>G	NCI-TCGA Cosmic
FGF10	O15520	p.Lys151AsnAsnGlnGlyProHisGlyLysLysTer	NCI-TCGA novel	stop gained	-	NC_000005.10:g.44305169_44305170insTATTTTTTCCCATGGGGCCCCTGGTTA	NCI-TCGA
FGF10	O15520	p.Lys151AsnGlnGlyProHisGlyLysLysTer	NCI-TCGA novel	stop gained	-	NC_000005.10:g.44305169_44305170insTATTTTTTCCCATGGGGCCCCTGG	NCI-TCGA
FGF10	O15520	p.Leu152AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.44305168_44305169insTT	NCI-TCGA
FGF10	O15520	p.Arg155Lys	rs1409489572	missense variant	-	NC_000005.10:g.44305158C>T	TOPMed,gnomAD
FGF10	O15520	p.Ile156Arg	rs104893886	missense variant	Lacrimo-auriculo-dento-digital syndrome (LADDS)	NC_000005.10:g.44305155A>C	UniProt,dbSNP
FGF10	O15520	p.Ile156Arg	VAR_029889	missense variant	Lacrimo-auriculo-dento-digital syndrome (LADDS)	NC_000005.10:g.44305155A>C	UniProt
FGF10	O15520	p.Ile156Arg	rs104893886	missense variant	-	NC_000005.10:g.44305155A>C	-
FGF10	O15520	p.Glu157Asp	COSM351231	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44305151C>A	NCI-TCGA Cosmic
FGF10	O15520	p.Asn159Lys	COSM6104075	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44305145A>T	NCI-TCGA Cosmic
FGF10	O15520	p.Tyr161Ter	COSM6171278	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.44305139G>T	NCI-TCGA Cosmic
FGF10	O15520	p.Asn162LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.44305138_44305139insTATTATGGATTTGTAG	NCI-TCGA
FGF10	O15520	p.Thr163Ile	rs1206827871	missense variant	-	NC_000005.10:g.44305134G>A	gnomAD
FGF10	O15520	p.Phe167Leu	rs1374899961	missense variant	-	NC_000005.10:g.44305123A>G	gnomAD
FGF10	O15520	p.Gln170Lys	rs758742613	missense variant	-	NC_000005.10:g.44305114G>T	ExAC,gnomAD
FGF10	O15520	p.His171Tyr	rs1456457163	missense variant	-	NC_000005.10:g.44305111G>A	TOPMed
FGF10	O15520	p.Arg174Thr	rs1200591041	missense variant	-	NC_000005.10:g.44305101C>G	TOPMed
FGF10	O15520	p.Met176Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305095A>C	NCI-TCGA
FGF10	O15520	p.Tyr177Phe	rs1453394033	missense variant	-	NC_000005.10:g.44305092T>A	gnomAD
FGF10	O15520	p.Val178Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305090C>T	NCI-TCGA
FGF10	O15520	p.Asn181Asp	rs1332768200	missense variant	-	NC_000005.10:g.44305081T>C	gnomAD
FGF10	O15520	p.Asn181His	rs1332768200	missense variant	-	NC_000005.10:g.44305081T>G	gnomAD
FGF10	O15520	p.Gly182Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305077C>A	NCI-TCGA
FGF10	O15520	p.Gly182Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305077C>T	NCI-TCGA
FGF10	O15520	p.Arg187Lys	rs1442319696	missense variant	-	NC_000005.10:g.44305062C>T	TOPMed
FGF10	O15520	p.Arg188Ile	rs183142365	missense variant	-	NC_000005.10:g.44305059C>A	1000Genomes
FGF10	O15520	p.Arg188Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305059C>T	NCI-TCGA
FGF10	O15520	p.Gln190Glu	rs1013456350	missense variant	-	NC_000005.10:g.44305054G>C	TOPMed,gnomAD
FGF10	O15520	p.Gln190His	rs1403015185	missense variant	-	NC_000005.10:g.44305052C>G	gnomAD
FGF10	O15520	p.Arg193Ter	rs104893884	stop gained	-	NC_000005.10:g.44305045G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Arg193Gln	rs1158466327	missense variant	-	NC_000005.10:g.44305044C>T	NCI-TCGA Cosmic
FGF10	O15520	p.Arg193Gly	rs104893884	missense variant	-	NC_000005.10:g.44305045G>C	1000Genomes,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Arg193Gln	rs1158466327	missense variant	-	NC_000005.10:g.44305044C>T	TOPMed,gnomAD
FGF10	O15520	p.Arg194Lys	rs1418284908	missense variant	-	NC_000005.10:g.44305041C>T	gnomAD
FGF10	O15520	p.Lys195Ile	COSM738693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44305038T>A	NCI-TCGA Cosmic
FGF10	O15520	p.Lys195Arg	rs1165118219	missense variant	-	NC_000005.10:g.44305038T>C	TOPMed
FGF10	O15520	p.Lys195Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305039T>C	NCI-TCGA
FGF10	O15520	p.Thr197Ile	rs1163839847	missense variant	-	NC_000005.10:g.44305032G>A	gnomAD
FGF10	O15520	p.Ser198Cys	rs1235308786	missense variant	-	NC_000005.10:g.44305029G>C	TOPMed,gnomAD
FGF10	O15520	p.Ser198Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305029G>A	NCI-TCGA
FGF10	O15520	p.Ala199Val	COSM3855391	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.44305026G>A	NCI-TCGA Cosmic
FGF10	O15520	p.Met204Val	rs150695565	missense variant	-	NC_000005.10:g.44305012T>C	1000Genomes,ExAC,TOPMed,gnomAD
FGF10	O15520	p.Met204Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305010C>A	NCI-TCGA
FGF10	O15520	p.Val205Met	rs773535125	missense variant	-	NC_000005.10:g.44305009C>T	ExAC,TOPMed,gnomAD
FGF10	O15520	p.Val206Leu	rs202151850	missense variant	-	NC_000005.10:g.44305006C>A	1000Genomes,gnomAD
FGF10	O15520	p.Val206Ile	rs202151850	missense variant	-	NC_000005.10:g.44305006C>T	1000Genomes,gnomAD
FGF10	O15520	p.Val206Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.44305005A>G	NCI-TCGA
FGF10	O15520	p.His207Arg	rs147715509	missense variant	-	NC_000005.10:g.44305002T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF10	O15520	p.His207Pro	rs147715509	missense variant	-	NC_000005.10:g.44305002T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu3Lys	rs780183583	missense variant	-	NC_000016.10:g.19527888G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu5Asp	rs1349897885	missense variant	-	NC_000016.10:g.19527896G>C	gnomAD
CCP110	O43303	p.Lys6Thr	rs777739976	missense variant	-	NC_000016.10:g.19527898A>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Phe7Leu	rs1477988292	missense variant	-	NC_000016.10:g.19527900T>C	TOPMed
CCP110	O43303	p.Leu12Ile	rs1319614794	missense variant	-	NC_000016.10:g.19527915C>A	gnomAD
CCP110	O43303	p.Ile15Met	rs145642339	missense variant	-	NC_000016.10:g.19527926A>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile15Val	rs776088469	missense variant	-	NC_000016.10:g.19527924A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gln16Ter	rs778583507	stop gained	-	NC_000016.10:g.19527927C>T	ExAC,gnomAD
CCP110	O43303	p.Ala18Thr	rs775233711	missense variant	-	NC_000016.10:g.19527933G>A	ExAC,gnomAD
CCP110	O43303	p.Thr22Pro	rs1422297183	missense variant	-	NC_000016.10:g.19527945A>C	gnomAD
CCP110	O43303	p.Glu23Gln	rs777342846	missense variant	-	NC_000016.10:g.19527948G>C	ExAC,gnomAD
CCP110	O43303	p.Pro27Ser	COSM3506743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19527960C>T	NCI-TCGA Cosmic
CCP110	O43303	p.Pro27Leu	rs1427054544	missense variant	-	NC_000016.10:g.19527961C>T	gnomAD
CCP110	O43303	p.Leu35Phe	rs149107701	missense variant	-	NC_000016.10:g.19527984C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg37Cys	rs1029428552	missense variant	-	NC_000016.10:g.19527990C>T	gnomAD
CCP110	O43303	p.Arg37His	rs1395120292	missense variant	-	NC_000016.10:g.19527991G>A	TOPMed,gnomAD
CCP110	O43303	p.His39Tyr	COSM1301685	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19527996C>T	NCI-TCGA Cosmic
CCP110	O43303	p.Gly40Arg	rs1322972178	missense variant	-	NC_000016.10:g.19527999G>A	gnomAD
CCP110	O43303	p.Gly40Glu	rs1225604464	missense variant	-	NC_000016.10:g.19528000G>A	gnomAD
CCP110	O43303	p.Ile43Val	rs1273827088	missense variant	-	NC_000016.10:g.19528008A>G	gnomAD
CCP110	O43303	p.Leu44Phe	rs1342859664	missense variant	-	NC_000016.10:g.19528011C>T	gnomAD
CCP110	O43303	p.Leu48Ile	rs774625038	missense variant	-	NC_000016.10:g.19532416C>A	ExAC,gnomAD
CCP110	O43303	p.Leu48Phe	rs774625038	missense variant	-	NC_000016.10:g.19532416C>T	ExAC,gnomAD
CCP110	O43303	p.Glu51Lys	rs752747163	missense variant	-	NC_000016.10:g.19532425G>A	ExAC
CCP110	O43303	p.Glu51Gln	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19532425G>C	NCI-TCGA
CCP110	O43303	p.Lys52Thr	rs200304057	missense variant	-	NC_000016.10:g.19532429A>C	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg53Thr	rs1432345217	missense variant	-	NC_000016.10:g.19532432G>C	gnomAD
CCP110	O43303	p.Arg53Ile	COSM280090	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19532432G>T	NCI-TCGA Cosmic
CCP110	O43303	p.Met56Ile	rs1272969952	missense variant	-	NC_000016.10:g.19532442G>A	gnomAD
CCP110	O43303	p.Gln58Lys	rs1219530666	missense variant	-	NC_000016.10:g.19532446C>A	gnomAD
CCP110	O43303	p.Glu59Lys	rs750342809	missense variant	-	NC_000016.10:g.19532449G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu59Ter	rs750342809	stop gained	-	NC_000016.10:g.19532449G>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys62Glu	rs758334564	missense variant	-	NC_000016.10:g.19532458A>G	ExAC,gnomAD
CCP110	O43303	p.Ala63Glu	rs1013038359	missense variant	-	NC_000016.10:g.19532462C>A	TOPMed
CCP110	O43303	p.Val66Ala	rs779980261	missense variant	-	NC_000016.10:g.19532471T>C	ExAC,gnomAD
CCP110	O43303	p.Val66Leu	rs1267791973	missense variant	-	NC_000016.10:g.19532470G>T	gnomAD
CCP110	O43303	p.Glu67Val	rs968930617	missense variant	-	NC_000016.10:g.19532474A>T	TOPMed,gnomAD
CCP110	O43303	p.Glu67Lys	rs1003764439	missense variant	-	NC_000016.10:g.19532473G>A	TOPMed,gnomAD
CCP110	O43303	p.Arg69Ile	COSM967896	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19532480G>T	NCI-TCGA Cosmic
CCP110	O43303	p.Gln71Pro	rs751344225	missense variant	-	NC_000016.10:g.19532486A>C	ExAC,gnomAD
CCP110	O43303	p.Asn73Ser	rs1465581469	missense variant	-	NC_000016.10:g.19532492A>G	TOPMed
CCP110	O43303	p.Lys76Glu	rs754684122	missense variant	-	NC_000016.10:g.19532500A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Leu78Val	rs1173862839	missense variant	-	NC_000016.10:g.19532506T>G	TOPMed
CCP110	O43303	p.Leu78Ser	rs780858604	missense variant	-	NC_000016.10:g.19532507T>C	ExAC,gnomAD
CCP110	O43303	p.Thr80Pro	rs1157931568	missense variant	-	NC_000016.10:g.19532512A>C	gnomAD
CCP110	O43303	p.Arg81His	rs778186966	missense variant	-	NC_000016.10:g.19532516G>A	ExAC,gnomAD
CCP110	O43303	p.Arg81Gly	rs367817294	missense variant	-	NC_000016.10:g.19532515C>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg81Cys	rs367817294	missense variant	-	NC_000016.10:g.19532515C>T	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Val82Ala	rs749793932	missense variant	-	NC_000016.10:g.19532519T>C	ExAC,gnomAD
CCP110	O43303	p.Gln83Glu	rs1285098244	missense variant	-	NC_000016.10:g.19532521C>G	TOPMed,gnomAD
CCP110	O43303	p.Gln83Arg	rs771367358	missense variant	-	NC_000016.10:g.19532522A>G	ExAC,gnomAD
CCP110	O43303	p.Leu86Ile	rs1437142485	missense variant	-	NC_000016.10:g.19532530C>A	gnomAD
CCP110	O43303	p.Asn88Lys	rs1348368122	missense variant	-	NC_000016.10:g.19532538T>G	gnomAD
CCP110	O43303	p.Asn88Ser	rs774698755	missense variant	-	NC_000016.10:g.19532537A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg92Gly	rs1197739054	missense variant	-	NC_000016.10:g.19535943A>G	gnomAD
CCP110	O43303	p.Ala94Val	rs367940434	missense variant	-	NC_000016.10:g.19535950C>T	ESP,ExAC,gnomAD
CCP110	O43303	p.Asn96Asp	rs766354418	missense variant	-	NC_000016.10:g.19535955A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asn96Ile	rs1408973914	missense variant	-	NC_000016.10:g.19535956A>T	TOPMed,gnomAD
CCP110	O43303	p.Asn96Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19535956A>G	NCI-TCGA
CCP110	O43303	p.Ser98Asn	rs537803910	missense variant	-	NC_000016.10:g.19535962G>A	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Ser98Gly	rs751432098	missense variant	-	NC_000016.10:g.19535961A>G	ExAC,gnomAD
CCP110	O43303	p.Asp99Tyr	COSM1376292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19535964G>T	NCI-TCGA Cosmic
CCP110	O43303	p.Trp103Arg	rs752367436	missense variant	-	NC_000016.10:g.19535976T>C	ExAC,gnomAD
CCP110	O43303	p.Met105Val	rs755649388	missense variant	-	NC_000016.10:g.19535982A>G	ExAC,gnomAD
CCP110	O43303	p.Met105Thr	rs561301333	missense variant	-	NC_000016.10:g.19535983T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu106Lys	rs748726525	missense variant	-	NC_000016.10:g.19535985G>A	ExAC,gnomAD
CCP110	O43303	p.Ser110Cys	rs1204802177	missense variant	-	NC_000016.10:g.19535998C>G	TOPMed,gnomAD
CCP110	O43303	p.Ser110Pro	rs771457131	missense variant	-	NC_000016.10:g.19535997T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asn111Ser	rs1253026018	missense variant	-	NC_000016.10:g.19536001A>G	TOPMed,gnomAD
CCP110	O43303	p.Arg115Gly	rs779339856	missense variant	-	NC_000016.10:g.19536012A>G	ExAC,gnomAD
CCP110	O43303	p.Val119Ile	rs1180722598	missense variant	-	NC_000016.10:g.19536024G>A	gnomAD
CCP110	O43303	p.Phe123Ile	rs775640437	missense variant	-	NC_000016.10:g.19536036T>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser126Arg	rs776778626	missense variant	-	NC_000016.10:g.19536047C>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser126Asn	rs768700653	missense variant	-	NC_000016.10:g.19536046G>A	ExAC,gnomAD
CCP110	O43303	p.Pro128Gln	rs76903460	missense variant	-	NC_000016.10:g.19536052C>A	ExAC,gnomAD
CCP110	O43303	p.Pro128Ser	COSM3506745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536051C>T	NCI-TCGA Cosmic
CCP110	O43303	p.Ser129Ile	rs1175113347	missense variant	-	NC_000016.10:g.19536055G>T	gnomAD
CCP110	O43303	p.Ser129Arg	rs1398398617	missense variant	-	NC_000016.10:g.19536056C>G	TOPMed,gnomAD
CCP110	O43303	p.Thr131Arg	rs372440972	missense variant	-	NC_000016.10:g.19536061C>G	ESP,ExAC,gnomAD
CCP110	O43303	p.Thr131Lys	rs372440972	missense variant	-	NC_000016.10:g.19536061C>A	ESP,ExAC,gnomAD
CCP110	O43303	p.Thr131Met	rs372440972	missense variant	-	NC_000016.10:g.19536061C>T	ESP,ExAC,gnomAD
CCP110	O43303	p.Glu132Gly	rs767342328	missense variant	-	NC_000016.10:g.19536064A>G	ExAC,gnomAD
CCP110	O43303	p.His133Asp	rs368558634	missense variant	-	NC_000016.10:g.19536066C>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.His133Tyr	rs368558634	missense variant	-	NC_000016.10:g.19536066C>T	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser134Ala	rs1217775490	missense variant	-	NC_000016.10:g.19536069T>G	TOPMed
CCP110	O43303	p.Thr135Pro	rs1317258550	missense variant	-	NC_000016.10:g.19536072A>C	gnomAD
CCP110	O43303	p.Thr135Ile	rs763610593	missense variant	-	NC_000016.10:g.19536073C>T	ExAC,gnomAD
CCP110	O43303	p.Thr135Ala	rs1317258550	missense variant	-	NC_000016.10:g.19536072A>G	gnomAD
CCP110	O43303	p.Ala136Ser	rs777629097	missense variant	-	NC_000016.10:g.19536075G>T	gnomAD
CCP110	O43303	p.Ala136Val	rs1252455005	missense variant	-	NC_000016.10:g.19536076C>T	gnomAD
CCP110	O43303	p.Ala137Val	rs1347502189	missense variant	-	NC_000016.10:g.19536079C>T	TOPMed
CCP110	O43303	p.Leu139Pro	rs1254480986	missense variant	-	NC_000016.10:g.19536085T>C	TOPMed
CCP110	O43303	p.Asp140Val	rs1277456209	missense variant	-	NC_000016.10:g.19536088A>T	gnomAD
CCP110	O43303	p.Lys141Met	rs779435583	missense variant	-	NC_000016.10:g.19536091A>T	ExAC,gnomAD
CCP110	O43303	p.Ile142Leu	rs1395576529	missense variant	-	NC_000016.10:g.19536093A>T	gnomAD
CCP110	O43303	p.Ala143Val	rs1184835116	missense variant	-	NC_000016.10:g.19536097C>T	TOPMed,gnomAD
CCP110	O43303	p.Gly144Glu	rs545746288	missense variant	-	NC_000016.10:g.19536100G>A	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Asp149Asn	rs1312863275	missense variant	-	NC_000016.10:g.19536114G>A	TOPMed
CCP110	O43303	p.Asp152Glu	rs1448746422	missense variant	-	NC_000016.10:g.19536125C>G	gnomAD
CCP110	O43303	p.Gln153Leu	rs1294887680	missense variant	-	NC_000016.10:g.19536127A>T	TOPMed
CCP110	O43303	p.Cys154Tyr	rs758746089	missense variant	-	NC_000016.10:g.19536130G>A	ExAC,gnomAD
CCP110	O43303	p.Lys155Asn	rs780478690	missense variant	-	NC_000016.10:g.19536134A>C	ExAC,gnomAD
CCP110	O43303	p.Asp160Gly	rs1304924670	missense variant	-	NC_000016.10:g.19536148A>G	TOPMed,gnomAD
CCP110	O43303	p.Ala162Val	rs747271722	missense variant	-	NC_000016.10:g.19536154C>T	ExAC,gnomAD
CCP110	O43303	p.Arg163Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536157G>C	NCI-TCGA
CCP110	O43303	p.Asp164Tyr	rs1171843911	missense variant	-	NC_000016.10:g.19536159G>T	gnomAD
CCP110	O43303	p.Glu166Lys	rs1470443267	missense variant	-	NC_000016.10:g.19536165G>A	TOPMed,gnomAD
CCP110	O43303	p.Phe168Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536172T>G	NCI-TCGA
CCP110	O43303	p.Asn169Lys	rs1400372438	missense variant	-	NC_000016.10:g.19536176T>G	TOPMed
CCP110	O43303	p.Pro171Leu	RCV000454470	missense variant	-	NC_000016.10:g.19536181C>T	ClinVar
CCP110	O43303	p.Pro171Leu	rs3751821	missense variant	-	NC_000016.10:g.19536181C>T	UniProt,dbSNP
CCP110	O43303	p.Pro171Leu	VAR_056789	missense variant	-	NC_000016.10:g.19536181C>T	UniProt
CCP110	O43303	p.Pro171Leu	rs3751821	missense variant	-	NC_000016.10:g.19536181C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys172Gln	rs1404211740	missense variant	-	NC_000016.10:g.19536183A>C	gnomAD
CCP110	O43303	p.Lys172Asn	rs202061336	missense variant	-	NC_000016.10:g.19536185G>C	1000Genomes,TOPMed
CCP110	O43303	p.Gln173Lys	rs1434511311	missense variant	-	NC_000016.10:g.19536186C>A	gnomAD
CCP110	O43303	p.Ser176Arg	rs774501610	missense variant	-	NC_000016.10:g.19536195A>C	ExAC,gnomAD
CCP110	O43303	p.Ser177Cys	rs138700121	missense variant	-	NC_000016.10:g.19536199C>G	ESP,TOPMed,gnomAD
CCP110	O43303	p.Asn178His	rs759506196	missense variant	-	NC_000016.10:g.19536201A>C	ExAC,gnomAD
CCP110	O43303	p.Asn178Ser	rs1169094120	missense variant	-	NC_000016.10:g.19536202A>G	TOPMed
CCP110	O43303	p.Ser180Gly	rs1323759440	missense variant	-	NC_000016.10:g.19536207A>G	gnomAD
CCP110	O43303	p.His181Arg	rs1477155411	missense variant	-	NC_000016.10:g.19536211A>G	TOPMed
CCP110	O43303	p.Phe187LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.19536229_19536230insGC	NCI-TCGA
CCP110	O43303	p.Phe187Leu	rs919849177	missense variant	-	NC_000016.10:g.19536228T>C	TOPMed,gnomAD
CCP110	O43303	p.Pro188Arg	rs865892894	missense variant	-	NC_000016.10:g.19536232C>G	TOPMed
CCP110	O43303	p.Pro188Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536231C>G	NCI-TCGA
CCP110	O43303	p.Thr190Pro	rs1265911341	missense variant	-	NC_000016.10:g.19536237A>C	gnomAD
CCP110	O43303	p.Thr190Asn	rs1310449699	missense variant	-	NC_000016.10:g.19536238C>A	gnomAD
CCP110	O43303	p.Thr190Ser	rs1265911341	missense variant	-	NC_000016.10:g.19536237A>T	gnomAD
CCP110	O43303	p.Ser192Thr	rs775384062	missense variant	-	NC_000016.10:g.19536243T>A	ExAC,gnomAD
CCP110	O43303	p.Ala193Val	rs372309095	missense variant	-	NC_000016.10:g.19536247C>T	gnomAD
CCP110	O43303	p.Gln196Arg	rs760336340	missense variant	-	NC_000016.10:g.19536256A>G	ExAC,gnomAD
CCP110	O43303	p.Leu199Val	rs1197851197	missense variant	-	NC_000016.10:g.19536264C>G	gnomAD
CCP110	O43303	p.Ser201Pro	rs763852975	missense variant	-	NC_000016.10:g.19536270T>C	ExAC,gnomAD
CCP110	O43303	p.Asp202Glu	rs1178811987	missense variant	-	NC_000016.10:g.19536275T>G	gnomAD
CCP110	O43303	p.Gly203Asp	rs753453790	missense variant	-	NC_000016.10:g.19536277G>A	ExAC,gnomAD
CCP110	O43303	p.Pro204Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536280C>T	NCI-TCGA
CCP110	O43303	p.Pro204Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536279C>T	NCI-TCGA
CCP110	O43303	p.Ser206Pro	rs1387686163	missense variant	-	NC_000016.10:g.19536285T>C	gnomAD
CCP110	O43303	p.Val207Ile	rs372913262	missense variant	-	NC_000016.10:g.19536288G>A	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asn208Ser	rs749875348	missense variant	-	NC_000016.10:g.19536292A>G	ExAC,gnomAD
CCP110	O43303	p.Glu209Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536294G>A	NCI-TCGA
CCP110	O43303	p.Gln210Arg	rs758947488	missense variant	-	NC_000016.10:g.19536298A>G	ExAC,gnomAD
CCP110	O43303	p.Leu215Ile	COSM3420807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536312C>A	NCI-TCGA Cosmic
CCP110	O43303	p.Leu216Ser	rs908642725	missense variant	-	NC_000016.10:g.19536316T>C	TOPMed,gnomAD
CCP110	O43303	p.Val219Phe	rs780386195	missense variant	-	NC_000016.10:g.19536324G>T	ExAC,gnomAD
CCP110	O43303	p.Asp222Tyr	rs770483196	missense variant	-	NC_000016.10:g.19536333G>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asp222His	rs770483196	missense variant	-	NC_000016.10:g.19536333G>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Pro223Ser	COSM3506747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536336C>T	NCI-TCGA Cosmic
CCP110	O43303	p.Tyr224Cys	rs755275580	missense variant	-	NC_000016.10:g.19536340A>G	ExAC,gnomAD
CCP110	O43303	p.Met226Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536347G>C	NCI-TCGA
CCP110	O43303	p.Met226Thr	rs781605849	missense variant	-	NC_000016.10:g.19536346T>C	ExAC,gnomAD
CCP110	O43303	p.Asn230Lys	rs748380117	missense variant	-	NC_000016.10:g.19536359T>A	ExAC,gnomAD
CCP110	O43303	p.Leu231Met	rs375849116	missense variant	-	NC_000016.10:g.19536360C>A	ESP,gnomAD
CCP110	O43303	p.Lys233Asn	rs770058833	missense variant	-	NC_000016.10:g.19536368A>C	ExAC,gnomAD
CCP110	O43303	p.Lys236Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536376A>C	NCI-TCGA
CCP110	O43303	p.Tyr238Cys	rs1365632297	missense variant	-	NC_000016.10:g.19536382A>G	TOPMed,gnomAD
CCP110	O43303	p.Tyr238His	rs780956167	missense variant	-	NC_000016.10:g.19536381T>C	ExAC,gnomAD
CCP110	O43303	p.Ile239Val	rs749284848	missense variant	-	NC_000016.10:g.19536384A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gln243His	rs1366811165	missense variant	-	NC_000016.10:g.19536398A>T	gnomAD
CCP110	O43303	p.Gln243Ter	rs369241568	stop gained	-	NC_000016.10:g.19536396C>T	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gln243Glu	rs369241568	missense variant	-	NC_000016.10:g.19536396C>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser244Cys	rs1339675595	missense variant	-	NC_000016.10:g.19536400C>G	TOPMed
CCP110	O43303	p.Arg246His	rs760554250	missense variant	-	NC_000016.10:g.19536406G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg246Cys	rs775264049	missense variant	-	NC_000016.10:g.19536405C>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg246Leu	rs760554250	missense variant	-	NC_000016.10:g.19536406G>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser247Arg	rs1402442413	missense variant	-	NC_000016.10:g.19536410T>G	TOPMed
CCP110	O43303	p.Ser247Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536409G>T	NCI-TCGA
CCP110	O43303	p.Leu248Pro	rs763871078	missense variant	-	NC_000016.10:g.19536412T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Leu248Arg	rs763871078	missense variant	-	NC_000016.10:g.19536412T>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser251Asn	rs776323044	missense variant	-	NC_000016.10:g.19536421G>A	ExAC,gnomAD
CCP110	O43303	p.Ile252Met	rs226891	missense variant	-	NC_000016.10:g.19536425C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile252Ser	rs761466549	missense variant	-	NC_000016.10:g.19536424T>G	ExAC,gnomAD
CCP110	O43303	p.Ile252Met	RCV000455139	missense variant	-	NC_000016.10:g.19536425C>G	ClinVar
CCP110	O43303	p.Asn253Lys	rs1172027973	missense variant	-	NC_000016.10:g.19536428C>G	TOPMed
CCP110	O43303	p.Arg254Ser	rs1243514857	missense variant	-	NC_000016.10:g.19536431A>T	gnomAD
CCP110	O43303	p.Val256Ile	rs1292389460	missense variant	-	NC_000016.10:g.19536435G>A	gnomAD
CCP110	O43303	p.Asn257Tyr	rs938179451	missense variant	-	NC_000016.10:g.19536438A>T	TOPMed,gnomAD
CCP110	O43303	p.Glu258Gln	rs1202674805	missense variant	-	NC_000016.10:g.19536441G>C	gnomAD
CCP110	O43303	p.Glu258Lys	COSM3817400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536441G>A	NCI-TCGA Cosmic
CCP110	O43303	p.Glu258Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.19536441G>T	NCI-TCGA
CCP110	O43303	p.Ser259Asn	rs749981118	missense variant	-	NC_000016.10:g.19536445G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.His260Asn	rs1190016263	missense variant	-	NC_000016.10:g.19536447C>A	TOPMed
CCP110	O43303	p.Leu261Ser	rs1424668037	missense variant	-	NC_000016.10:g.19536451T>C	TOPMed
CCP110	O43303	p.Asp262Glu	rs762322747	missense variant	-	NC_000016.10:g.19536455C>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu264Gly	rs1252979583	missense variant	-	NC_000016.10:g.19536460A>G	gnomAD
CCP110	O43303	p.Glu264Lys	rs1177979877	missense variant	-	NC_000016.10:g.19536459G>A	gnomAD
CCP110	O43303	p.His265Pro	rs766959732	missense variant	-	NC_000016.10:g.19536463A>C	ExAC,gnomAD
CCP110	O43303	p.His265Arg	rs766959732	missense variant	-	NC_000016.10:g.19536463A>G	ExAC,gnomAD
CCP110	O43303	p.Ala267Gly	rs1196904740	missense variant	-	NC_000016.10:g.19536469C>G	TOPMed
CCP110	O43303	p.Ala267Thr	rs1183129444	missense variant	-	NC_000016.10:g.19536468G>A	gnomAD
CCP110	O43303	p.Ala267Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536469C>A	NCI-TCGA
CCP110	O43303	p.Val270Met	rs1459151063	missense variant	-	NC_000016.10:g.19536477G>A	TOPMed
CCP110	O43303	p.Ala271LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.19536479G>-	NCI-TCGA
CCP110	O43303	p.Asp272Gly	rs1386341416	missense variant	-	NC_000016.10:g.19536484A>G	gnomAD
CCP110	O43303	p.Val274Ile	rs1167057736	missense variant	-	NC_000016.10:g.19536489G>A	gnomAD
CCP110	O43303	p.Lys275Asn	rs150869918	missense variant	-	NC_000016.10:g.19536494A>C	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu276Gly	rs1462849539	missense variant	-	NC_000016.10:g.19536496A>G	gnomAD
CCP110	O43303	p.Gly278Ala	rs1032997440	missense variant	-	NC_000016.10:g.19536502G>C	TOPMed,gnomAD
CCP110	O43303	p.Gln279His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536506G>C	NCI-TCGA
CCP110	O43303	p.Gly282Ser	rs1247279388	missense variant	-	NC_000016.10:g.19536513G>A	TOPMed
CCP110	O43303	p.Gly282Asp	rs781683712	missense variant	-	NC_000016.10:g.19536514G>A	ExAC,gnomAD
CCP110	O43303	p.Ser287Ala	rs1384852152	missense variant	-	NC_000016.10:g.19536528T>G	gnomAD
CCP110	O43303	p.Ser287Pro	COSM4917883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536528T>C	NCI-TCGA Cosmic
CCP110	O43303	p.Asp291Gly	rs138258455	missense variant	-	NC_000016.10:g.19536541A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys292Asn	rs1296853332	missense variant	-	NC_000016.10:g.19536545A>T	gnomAD
CCP110	O43303	p.Pro293Arg	rs112583917	missense variant	-	NC_000016.10:g.19536547C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser294Asn	rs1206449027	missense variant	-	NC_000016.10:g.19536550G>A	gnomAD
CCP110	O43303	p.Asn299Ser	rs778089923	missense variant	-	NC_000016.10:g.19536565A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Leu301Phe	rs1203045230	missense variant	-	NC_000016.10:g.19536570C>T	TOPMed,gnomAD
CCP110	O43303	p.Leu302Phe	rs770881191	missense variant	-	NC_000016.10:g.19536573C>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Leu302Val	rs770881191	missense variant	-	NC_000016.10:g.19536573C>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gln303Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.19536576C>T	NCI-TCGA
CCP110	O43303	p.Gly304Asp	rs532249557	missense variant	-	NC_000016.10:g.19536580G>A	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ala305Pro	rs746907556	missense variant	-	NC_000016.10:g.19536582G>C	ExAC,gnomAD
CCP110	O43303	p.Ala309Thr	rs776413838	missense variant	-	NC_000016.10:g.19536594G>A	ExAC,gnomAD
CCP110	O43303	p.Ser310Arg	rs1357000678	missense variant	-	NC_000016.10:g.19536599C>G	TOPMed,gnomAD
CCP110	O43303	p.Ser311Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536601G>A	NCI-TCGA
CCP110	O43303	p.Met312Val	rs761555016	missense variant	-	NC_000016.10:g.19536603A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met312Leu	rs761555016	missense variant	-	NC_000016.10:g.19536603A>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser313Asn	rs1336756343	missense variant	-	NC_000016.10:g.19536607G>A	gnomAD
CCP110	O43303	p.Ser313Arg	rs12446976	missense variant	-	NC_000016.10:g.19536608T>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ala318Asp	rs1432314582	missense variant	-	NC_000016.10:g.19536622C>A	gnomAD
CCP110	O43303	p.Ser319Arg	rs1296781035	missense variant	-	NC_000016.10:g.19536626C>A	gnomAD
CCP110	O43303	p.Ser321Leu	rs758917792	missense variant	-	NC_000016.10:g.19536631C>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys322Glu	rs1211781984	missense variant	-	NC_000016.10:g.19536633A>G	TOPMed
CCP110	O43303	p.Val323Ala	rs144385995	missense variant	-	NC_000016.10:g.19536637T>C	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asp324Gly	rs1223158927	missense variant	-	NC_000016.10:g.19536640A>G	gnomAD
CCP110	O43303	p.Asp324IlePheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000016.10:g.19536638_19536639insATTTCCTGAAGATT	NCI-TCGA
CCP110	O43303	p.Ile325Leu	rs760137709	missense variant	-	NC_000016.10:g.19536642A>C	ExAC,gnomAD
CCP110	O43303	p.Ile327Val	rs535898577	missense variant	-	NC_000016.10:g.19536648A>G	TOPMed
CCP110	O43303	p.Ile327Lys	rs1383994857	missense variant	-	NC_000016.10:g.19536649T>A	gnomAD
CCP110	O43303	p.Arg328Gln	rs768073766	missense variant	-	NC_000016.10:g.19536652G>A	ExAC,TOPMed
CCP110	O43303	p.Arg328Ter	rs1462705993	stop gained	-	NC_000016.10:g.19536651C>T	TOPMed,gnomAD
CCP110	O43303	p.Arg328Pro	rs768073766	missense variant	-	NC_000016.10:g.19536652G>C	ExAC,TOPMed
CCP110	O43303	p.His331Tyr	rs1241985570	missense variant	-	NC_000016.10:g.19536660C>T	gnomAD
CCP110	O43303	p.Thr333Ala	rs1188610278	missense variant	-	NC_000016.10:g.19536666A>G	gnomAD
CCP110	O43303	p.Leu335Val	rs753130901	missense variant	-	NC_000016.10:g.19536672C>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Leu335Pro	rs565649558	missense variant	-	NC_000016.10:g.19536673T>C	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Leu335Ile	rs753130901	missense variant	-	NC_000016.10:g.19536672C>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asn338His	rs753999033	missense variant	-	NC_000016.10:g.19536681A>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser339Cys	rs1226404070	missense variant	-	NC_000016.10:g.19536685C>G	gnomAD
CCP110	O43303	p.Ile344Leu	rs1294407941	missense variant	-	NC_000016.10:g.19536699A>C	gnomAD
CCP110	O43303	p.Thr346Ala	rs757415295	missense variant	-	NC_000016.10:g.19536705A>G	ExAC,gnomAD
CCP110	O43303	p.Thr346Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536706C>A	NCI-TCGA
CCP110	O43303	p.Phe347Ile	rs11645625	missense variant	-	NC_000016.10:g.19536708T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Val348Ala	COSM6143855	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536712T>C	NCI-TCGA Cosmic
CCP110	O43303	p.Glu350Lys	rs768611357	missense variant	-	NC_000016.10:g.19536717G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asn351Asp	rs369101517	missense variant	-	NC_000016.10:g.19536720A>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Val353Ala	rs1027345319	missense variant	-	NC_000016.10:g.19536727T>C	TOPMed
CCP110	O43303	p.Ile354Met	COSM702573	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536731C>G	NCI-TCGA Cosmic
CCP110	O43303	p.Lys355Arg	rs747986482	missense variant	-	NC_000016.10:g.19536733A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys355Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536734A>C	NCI-TCGA
CCP110	O43303	p.Thr358Arg	rs1284147343	missense variant	-	NC_000016.10:g.19536742C>G	gnomAD
CCP110	O43303	p.Thr358Ile	rs1284147343	missense variant	-	NC_000016.10:g.19536742C>T	gnomAD
CCP110	O43303	p.Gly359Val	rs769548557	missense variant	-	NC_000016.10:g.19536745G>T	ExAC,gnomAD
CCP110	O43303	p.Gly359Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536744G>T	NCI-TCGA
CCP110	O43303	p.Ser360Leu	COSM4402753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536748C>T	NCI-TCGA Cosmic
CCP110	O43303	p.Tyr361His	rs1221549650	missense variant	-	NC_000016.10:g.19536750T>C	TOPMed,gnomAD
CCP110	O43303	p.Ala362Pro	rs1226575477	missense variant	-	NC_000016.10:g.19536753G>C	gnomAD
CCP110	O43303	p.Lys363Arg	rs772985733	missense variant	-	NC_000016.10:g.19536757A>G	ExAC,gnomAD
CCP110	O43303	p.Pro365Ser	rs762502593	missense variant	-	NC_000016.10:g.19536762C>T	ExAC,gnomAD
CCP110	O43303	p.Ser366Asn	rs1201063249	missense variant	-	NC_000016.10:g.19536766G>A	TOPMed
CCP110	O43303	p.Pro369Thr	rs770561168	missense variant	-	NC_000016.10:g.19536774C>A	ExAC,gnomAD
CCP110	O43303	p.Ser370Thr	rs773742124	missense variant	-	NC_000016.10:g.19536778G>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser370Asn	rs773742124	missense variant	-	NC_000016.10:g.19536778G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met371Thr	rs759081175	missense variant	-	NC_000016.10:g.19536781T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met371Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536780A>G	NCI-TCGA
CCP110	O43303	p.Pro373Leu	rs768184226	missense variant	-	NC_000016.10:g.19536787C>T	ExAC,gnomAD
CCP110	O43303	p.Lys374Glu	rs761186490	missense variant	-	NC_000016.10:g.19536789A>G	ExAC,gnomAD
CCP110	O43303	p.Met375Ile	rs7190666	missense variant	-	NC_000016.10:g.19536794G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met375Val	rs1157442340	missense variant	-	NC_000016.10:g.19536792A>G	TOPMed,gnomAD
CCP110	O43303	p.Met375Ile	RCV000455799	missense variant	-	NC_000016.10:g.19536794G>A	ClinVar
CCP110	O43303	p.His376Leu	rs1219074140	missense variant	-	NC_000016.10:g.19536796A>T	TOPMed
CCP110	O43303	p.Arg377Gln	rs567612351	missense variant	-	NC_000016.10:g.19536799G>A	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg377Ter	rs1401990024	stop gained	-	NC_000016.10:g.19536798C>T	TOPMed,gnomAD
CCP110	O43303	p.Arg379Cys	rs949349247	missense variant	-	NC_000016.10:g.19536804C>T	TOPMed
CCP110	O43303	p.Arg379His	rs146335974	missense variant	-	NC_000016.10:g.19536805G>A	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg379Leu	COSM6143853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536805G>T	NCI-TCGA Cosmic
CCP110	O43303	p.Arg381Gly	rs750523241	missense variant	-	NC_000016.10:g.19536810A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ala385Val	rs142177955	missense variant	-	NC_000016.10:g.19536823C>T	ESP,ExAC,gnomAD
CCP110	O43303	p.Cys386Tyr	rs777446045	missense variant	-	NC_000016.10:g.19536826G>A	ExAC,gnomAD
CCP110	O43303	p.Cys386Arg	rs755961882	missense variant	-	NC_000016.10:g.19536825T>C	ExAC,gnomAD
CCP110	O43303	p.His387Tyr	rs749048633	missense variant	-	NC_000016.10:g.19536828C>T	ExAC,gnomAD
CCP110	O43303	p.Ile390Thr	rs761214278	missense variant	-	NC_000016.10:g.19536838T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asn391His	COSM260264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536840A>C	NCI-TCGA Cosmic
CCP110	O43303	p.Asn392Lys	rs1294442729	missense variant	-	NC_000016.10:g.19536845C>G	gnomAD
CCP110	O43303	p.Asn392Ser	rs1173121462	missense variant	-	NC_000016.10:g.19536844A>G	TOPMed
CCP110	O43303	p.Pro393Leu	COSM3506750	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536847C>T	NCI-TCGA Cosmic
CCP110	O43303	p.Ile394Val	rs369149634	missense variant	-	NC_000016.10:g.19536849A>G	ESP,TOPMed
CCP110	O43303	p.Cys397Gly	rs745407435	missense variant	-	NC_000016.10:g.19536858T>G	ExAC,gnomAD
CCP110	O43303	p.Gly403Ala	rs771701964	missense variant	-	NC_000016.10:g.19536877G>C	ExAC,gnomAD
CCP110	O43303	p.Gly403Arg	rs1054480188	missense variant	-	NC_000016.10:g.19536876G>C	gnomAD
CCP110	O43303	p.Gly403Arg	rs1054480188	missense variant	-	NC_000016.10:g.19536876G>A	gnomAD
CCP110	O43303	p.Gly403Glu	rs771701964	missense variant	-	NC_000016.10:g.19536877G>A	ExAC,gnomAD
CCP110	O43303	p.Lys404Gln	rs893945078	missense variant	-	NC_000016.10:g.19536879A>C	TOPMed,gnomAD
CCP110	O43303	p.Glu405Gly	rs945663612	missense variant	-	NC_000016.10:g.19536883A>G	TOPMed
CCP110	O43303	p.Glu405Ter	COSM967899	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.19536882G>T	NCI-TCGA Cosmic
CCP110	O43303	p.Gln406His	rs761276530	missense variant	-	NC_000016.10:g.19536887G>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met408Arg	rs200694115	missense variant	-	NC_000016.10:g.19536892T>G	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Met408Ile	rs766864319	missense variant	-	NC_000016.10:g.19536893G>A	-
CCP110	O43303	p.Met408Val	rs764593838	missense variant	-	NC_000016.10:g.19536891A>G	ExAC,gnomAD
CCP110	O43303	p.Asp409Tyr	rs1328433934	missense variant	-	NC_000016.10:g.19536894G>T	gnomAD
CCP110	O43303	p.Asp414Tyr	rs1444399311	missense variant	-	NC_000016.10:g.19536909G>T	gnomAD
CCP110	O43303	p.Asp416Asn	rs765427528	missense variant	-	NC_000016.10:g.19536915G>A	ExAC,gnomAD
CCP110	O43303	p.Glu423Val	rs1195644268	missense variant	-	NC_000016.10:g.19536937A>T	gnomAD
CCP110	O43303	p.Glu423Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19536937A>C	NCI-TCGA
CCP110	O43303	p.Glu423Lys	rs148705711	missense variant	-	NC_000016.10:g.19536936G>A	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile424Val	rs1275755465	missense variant	-	NC_000016.10:g.19536939A>G	TOPMed
CCP110	O43303	p.Met425Val	rs899570568	missense variant	-	NC_000016.10:g.19536942A>G	TOPMed
CCP110	O43303	p.Lys427Glu	rs142220898	missense variant	-	NC_000016.10:g.19536948A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Thr430Ala	rs973873957	missense variant	-	NC_000016.10:g.19536957A>G	-
CCP110	O43303	p.Ala433Val	rs370713605	missense variant	-	NC_000016.10:g.19536967C>T	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gly434Glu	rs982722527	missense variant	-	NC_000016.10:g.19536970G>A	TOPMed,gnomAD
CCP110	O43303	p.Cys436Tyr	rs990509431	missense variant	-	NC_000016.10:g.19536976G>A	gnomAD
CCP110	O43303	p.Cys436Phe	rs990509431	missense variant	-	NC_000016.10:g.19536976G>T	gnomAD
CCP110	O43303	p.Ser437Pro	rs778493534	missense variant	-	NC_000016.10:g.19536978T>C	ExAC,gnomAD
CCP110	O43303	p.Val440Phe	rs745500763	missense variant	-	NC_000016.10:g.19536987G>T	ExAC,gnomAD
CCP110	O43303	p.Val440Ala	COSM4058863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536988T>C	NCI-TCGA Cosmic
CCP110	O43303	p.Gly443Arg	rs779714453	missense variant	-	NC_000016.10:g.19536996G>C	ExAC,gnomAD
CCP110	O43303	p.Asn445Ile	rs769066188	missense variant	-	NC_000016.10:g.19537003A>T	ExAC,gnomAD
CCP110	O43303	p.Val449Ile	rs777173621	missense variant	-	NC_000016.10:g.19537014G>A	ExAC,gnomAD
CCP110	O43303	p.Val449Ala	rs374077305	missense variant	-	NC_000016.10:g.19537015T>C	ESP
CCP110	O43303	p.Lys450Arg	rs1405414796	missense variant	-	NC_000016.10:g.19537018A>G	gnomAD
CCP110	O43303	p.Glu451Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19537020G>A	NCI-TCGA
CCP110	O43303	p.Val454Ala	COSM5747710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537030T>C	NCI-TCGA Cosmic
CCP110	O43303	p.Val454Ile	rs1339247625	missense variant	-	NC_000016.10:g.19537029G>A	gnomAD
CCP110	O43303	p.Gly456Val	rs770190968	missense variant	-	NC_000016.10:g.19537036G>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gly456Ser	rs1325212813	missense variant	-	NC_000016.10:g.19537035G>A	gnomAD
CCP110	O43303	p.Gly456Asp	rs770190968	missense variant	-	NC_000016.10:g.19537036G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser458Pro	rs1340973983	missense variant	-	NC_000016.10:g.19537041T>C	gnomAD
CCP110	O43303	p.Asn459Ser	rs1420450040	missense variant	-	NC_000016.10:g.19537045A>G	TOPMed
CCP110	O43303	p.Val461Leu	rs540075055	missense variant	-	NC_000016.10:g.19537050G>C	ExAC,gnomAD
CCP110	O43303	p.Val461Leu	rs540075055	missense variant	-	NC_000016.10:g.19537050G>T	ExAC,gnomAD
CCP110	O43303	p.Ser465Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19537063C>T	NCI-TCGA
CCP110	O43303	p.Glu470Val	rs751672362	missense variant	-	NC_000016.10:g.19537078A>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Val473Ile	rs759616349	missense variant	-	NC_000016.10:g.19537086G>A	ExAC,gnomAD
CCP110	O43303	p.Val473Leu	rs759616349	missense variant	-	NC_000016.10:g.19537086G>C	ExAC,gnomAD
CCP110	O43303	p.Val473Ala	rs1446366012	missense variant	-	NC_000016.10:g.19537087T>C	gnomAD
CCP110	O43303	p.Thr474Ile	rs763990973	missense variant	-	NC_000016.10:g.19537090C>T	ExAC,gnomAD
CCP110	O43303	p.Gly476Arg	rs753805350	missense variant	-	NC_000016.10:g.19537095G>A	ExAC,gnomAD
CCP110	O43303	p.Val478Ile	rs1174511265	missense variant	-	NC_000016.10:g.19537101G>A	gnomAD
CCP110	O43303	p.Thr479Ile	rs778860781	missense variant	-	NC_000016.10:g.19537105C>T	ExAC,gnomAD
CCP110	O43303	p.Thr479Ser	rs1428939210	missense variant	-	NC_000016.10:g.19537104A>T	gnomAD
CCP110	O43303	p.Val480Ala	rs1179880775	missense variant	-	NC_000016.10:g.19537108T>C	TOPMed,gnomAD
CCP110	O43303	p.Glu481Lys	rs750174647	missense variant	-	NC_000016.10:g.19537110G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gln483Arg	rs1383387062	missense variant	-	NC_000016.10:g.19537117A>G	gnomAD
CCP110	O43303	p.Thr485Ile	rs1382178705	missense variant	-	NC_000016.10:g.19537123C>T	gnomAD
CCP110	O43303	p.Asp487Asn	rs202085873	missense variant	-	NC_000016.10:g.19537128G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu488Asp	rs1307602098	missense variant	-	NC_000016.10:g.19537133G>C	TOPMed
CCP110	O43303	p.Gly490Ser	rs1455704058	missense variant	-	NC_000016.10:g.19537137G>A	TOPMed,gnomAD
CCP110	O43303	p.Ala491Gly	rs770143429	missense variant	-	NC_000016.10:g.19537141C>G	ExAC,gnomAD
CCP110	O43303	p.Ala491Val	rs770143429	missense variant	-	NC_000016.10:g.19537141C>T	ExAC,gnomAD
CCP110	O43303	p.Ala491Thr	rs781615627	missense variant	-	NC_000016.10:g.19537140G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ala491Ser	rs781615627	missense variant	-	NC_000016.10:g.19537140G>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile493Val	rs1284563407	missense variant	-	NC_000016.10:g.19537146A>G	TOPMed
CCP110	O43303	p.Thr497Ile	rs184551421	missense variant	-	NC_000016.10:g.19537159C>T	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Cys498Tyr	rs759598287	missense variant	-	NC_000016.10:g.19537162G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Cys498Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19537161T>C	NCI-TCGA
CCP110	O43303	p.Ala499Val	rs1198435194	missense variant	-	NC_000016.10:g.19537165C>T	gnomAD
CCP110	O43303	p.Ala500Thr	rs1049791892	missense variant	-	NC_000016.10:g.19537167G>A	TOPMed
CCP110	O43303	p.Met501Arg	rs1355202652	missense variant	-	NC_000016.10:g.19537171T>G	TOPMed
CCP110	O43303	p.Met501Val	rs1480903753	missense variant	-	NC_000016.10:g.19537170A>G	gnomAD
CCP110	O43303	p.Pro502Ser	rs752659133	missense variant	-	NC_000016.10:g.19537173C>T	ExAC,gnomAD
CCP110	O43303	p.Pro502Leu	rs1164267503	missense variant	-	NC_000016.10:g.19537174C>T	TOPMed
CCP110	O43303	p.His505Arg	rs1362108473	missense variant	-	NC_000016.10:g.19537183A>G	gnomAD
CCP110	O43303	p.Pro507Leu	rs531944701	missense variant	-	NC_000016.10:g.19537189C>T	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Ser510Asn	COSM4058864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537198G>A	NCI-TCGA Cosmic
CCP110	O43303	p.Ser511Arg	rs138742987	missense variant	-	NC_000016.10:g.19537200A>C	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser511Gly	rs138742987	missense variant	-	NC_000016.10:g.19537200A>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gln512His	rs751220765	missense variant	-	NC_000016.10:g.19537205G>T	ExAC,gnomAD
CCP110	O43303	p.Gln512Arg	rs151214000	missense variant	-	NC_000016.10:g.19537204A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Cys513Tyr	rs1181074938	missense variant	-	NC_000016.10:g.19537207G>A	TOPMed
CCP110	O43303	p.Cys513Arg	rs1406419485	missense variant	-	NC_000016.10:g.19537206T>C	gnomAD
CCP110	O43303	p.Ile514Val	rs754505654	missense variant	-	NC_000016.10:g.19537209A>G	ExAC,gnomAD
CCP110	O43303	p.Ile514Thr	rs559174969	missense variant	-	NC_000016.10:g.19537210T>C	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Pro517Arg	rs747547368	missense variant	-	NC_000016.10:g.19537219C>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Pro517Ser	rs1239225264	missense variant	-	NC_000016.10:g.19537218C>T	TOPMed,gnomAD
CCP110	O43303	p.Asn518Asp	rs779977765	missense variant	-	NC_000016.10:g.19537221A>G	ExAC,gnomAD
CCP110	O43303	p.Phe519Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19537224T>G	NCI-TCGA
CCP110	O43303	p.Thr521Asn	rs368056132	missense variant	-	NC_000016.10:g.19537231C>A	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Val522Met	rs1193099157	missense variant	-	NC_000016.10:g.19537233G>A	gnomAD
CCP110	O43303	p.Ser523Asn	rs912139030	missense variant	-	NC_000016.10:g.19537237G>A	TOPMed
CCP110	O43303	p.Gly524Arg	rs1248762610	missense variant	-	NC_000016.10:g.19537239G>A	gnomAD
CCP110	O43303	p.Leu525Phe	rs1418562014	missense variant	-	NC_000016.10:g.19537242C>T	gnomAD
CCP110	O43303	p.Lys526Asn	rs1182634204	missense variant	-	NC_000016.10:g.19537247G>C	gnomAD
CCP110	O43303	p.Ser529Gly	rs1443364342	missense variant	-	NC_000016.10:g.19537254A>G	gnomAD
CCP110	O43303	p.Asn534Lys	rs1292109060	missense variant	-	NC_000016.10:g.19537271C>G	TOPMed
CCP110	O43303	p.Cys535Tyr	rs746111903	missense variant	-	NC_000016.10:g.19537273G>A	ExAC,gnomAD
CCP110	O43303	p.Leu537Val	rs1366560307	missense variant	-	NC_000016.10:g.19537278T>G	gnomAD
CCP110	O43303	p.Gln538Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.19537281C>T	NCI-TCGA
CCP110	O43303	p.Thr539Pro	COSM967902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537284A>C	NCI-TCGA Cosmic
CCP110	O43303	p.Thr539Lys	rs943712177	missense variant	-	NC_000016.10:g.19537285C>A	TOPMed,gnomAD
CCP110	O43303	p.Thr539Ile	rs943712177	missense variant	-	NC_000016.10:g.19537285C>T	TOPMed,gnomAD
CCP110	O43303	p.Glu540Lys	COSM967903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537287G>A	NCI-TCGA Cosmic
CCP110	O43303	p.Asn542Ser	rs143488344	missense variant	-	NC_000016.10:g.19537294A>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys543Arg	rs1395401456	missense variant	-	NC_000016.10:g.19537297A>G	gnomAD
CCP110	O43303	p.Ser544Phe	rs760622290	missense variant	-	NC_000016.10:g.19537300C>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Tyr545Cys	rs375241886	missense variant	-	NC_000016.10:g.19537303A>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Tyr545Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19537302T>G	NCI-TCGA
CCP110	O43303	p.Asp546Asn	rs1315687778	missense variant	-	NC_000016.10:g.19537305G>A	gnomAD
CCP110	O43303	p.Val547Ile	rs368395482	missense variant	-	NC_000016.10:g.19537308G>A	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asn549ThrPheSerTerUnk	COSM1376295	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.19537310A>-	NCI-TCGA Cosmic
CCP110	O43303	p.Asn549Lys	rs959147949	missense variant	-	NC_000016.10:g.19537316C>A	TOPMed
CCP110	O43303	p.Pro550Ala	rs202054670	missense variant	-	NC_000016.10:g.19537317C>G	1000Genomes,TOPMed
CCP110	O43303	p.Pro550Thr	rs202054670	missense variant	-	NC_000016.10:g.19537317C>A	1000Genomes,TOPMed
CCP110	O43303	p.Pro552Leu	rs754666121	missense variant	-	NC_000016.10:g.19537324C>T	ExAC,gnomAD
CCP110	O43303	p.Pro552Ser	rs376813668	missense variant	-	NC_000016.10:g.19537323C>T	ESP,ExAC,gnomAD
CCP110	O43303	p.Leu553Phe	COSM6078644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537328A>T	NCI-TCGA Cosmic
CCP110	O43303	p.Gln556Arg	rs752277360	missense variant	-	NC_000016.10:g.19537336A>G	ExAC,gnomAD
CCP110	O43303	p.Gln556Ter	rs1188923194	stop gained	-	NC_000016.10:g.19537335C>T	TOPMed
CCP110	O43303	p.Thr560Met	rs78180055	missense variant	-	NC_000016.10:g.19537348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg561Gly	rs1487149946	missense variant	-	NC_000016.10:g.19537350A>G	TOPMed
CCP110	O43303	p.Gln563Ter	rs749777679	stop gained	-	NC_000016.10:g.19537356C>T	ExAC,gnomAD
CCP110	O43303	p.Gln563Lys	rs749777679	missense variant	-	NC_000016.10:g.19537356C>A	ExAC,gnomAD
CCP110	O43303	p.Met564Thr	rs1181445518	missense variant	-	NC_000016.10:g.19537360T>C	gnomAD
CCP110	O43303	p.Pro567Ser	rs1287891572	missense variant	-	NC_000016.10:g.19537368C>T	TOPMed
CCP110	O43303	p.Met568Val	rs757700534	missense variant	-	NC_000016.10:g.19537371A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Val569Leu	rs141945021	missense variant	-	NC_000016.10:g.19537374G>T	ESP,ExAC,gnomAD
CCP110	O43303	p.Ser570Cys	rs369267187	missense variant	-	NC_000016.10:g.19537378C>G	ESP,TOPMed
CCP110	O43303	p.Ser570Pro	rs1311512454	missense variant	-	NC_000016.10:g.19537377T>C	TOPMed
CCP110	O43303	p.Cys571Ser	rs112924275	missense variant	-	NC_000016.10:g.19537380T>A	TOPMed
CCP110	O43303	p.Asn573Tyr	COSM4843975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537386A>T	NCI-TCGA Cosmic
CCP110	O43303	p.Gln575Lys	rs772359627	missense variant	-	NC_000016.10:g.19537392C>A	ExAC,gnomAD
CCP110	O43303	p.Gln575Pro	rs775552163	missense variant	-	NC_000016.10:g.19537393A>C	ExAC,gnomAD
CCP110	O43303	p.Asp578Tyr	COSM3506752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537401G>T	NCI-TCGA Cosmic
CCP110	O43303	p.Ser580Asn	rs1347493049	missense variant	-	NC_000016.10:g.19537408G>A	TOPMed
CCP110	O43303	p.Lys583Asn	rs17227190	missense variant	-	NC_000016.10:g.19537418A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys585Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19537423A>T	NCI-TCGA
CCP110	O43303	p.Arg586Gln	rs762998961	missense variant	-	NC_000016.10:g.19537426G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg586Trp	rs372951911	missense variant	-	NC_000016.10:g.19537425C>T	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile592Thr	rs774235433	missense variant	-	NC_000016.10:g.19537444T>C	ExAC,gnomAD
CCP110	O43303	p.Ile592Leu	rs766354286	missense variant	-	NC_000016.10:g.19537443A>C	ExAC,gnomAD
CCP110	O43303	p.Gly594Arg	rs759205882	missense variant	-	NC_000016.10:g.19537449G>C	ExAC,gnomAD
CCP110	O43303	p.Gln596Arg	rs1484542524	missense variant	-	NC_000016.10:g.19537456A>G	gnomAD
CCP110	O43303	p.Lys597Asn	rs1015539839	missense variant	-	NC_000016.10:g.19537460A>C	TOPMed
CCP110	O43303	p.Glu598Gly	rs1429518962	missense variant	-	NC_000016.10:g.19537462A>G	gnomAD
CCP110	O43303	p.Glu598Gln	rs1261439011	missense variant	-	NC_000016.10:g.19537461G>C	gnomAD
CCP110	O43303	p.Asn599Tyr	rs1172368915	missense variant	-	NC_000016.10:g.19537464A>T	gnomAD
CCP110	O43303	p.Pro601Leu	rs200731280	missense variant	-	NC_000016.10:g.19537471C>T	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Tyr602Cys	rs138995242	missense variant	-	NC_000016.10:g.19537474A>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile604Thr	rs757790472	missense variant	-	NC_000016.10:g.19537480T>C	ExAC,gnomAD
CCP110	O43303	p.Thr605Ile	rs779238031	missense variant	-	NC_000016.10:g.19537483C>T	ExAC
CCP110	O43303	p.Gly607Glu	rs141974640	missense variant	-	NC_000016.10:g.19537489G>A	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile608Met	rs146294106	missense variant	-	NC_000016.10:g.19537493A>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu610Val	COSM4908534	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537498A>T	NCI-TCGA Cosmic
CCP110	O43303	p.Gln611Arg	rs547824119	missense variant	-	NC_000016.10:g.19537501A>G	1000Genomes
CCP110	O43303	p.Gln611Lys	COSM4908414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537500C>A	NCI-TCGA Cosmic
CCP110	O43303	p.His615Tyr	rs780390517	missense variant	-	NC_000016.10:g.19537512C>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.His615Asn	rs780390517	missense variant	-	NC_000016.10:g.19537512C>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Leu616Ser	rs747221137	missense variant	-	NC_000016.10:g.19537516T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Pro617Ser	rs866623157	missense variant	-	NC_000016.10:g.19537518C>T	TOPMed,gnomAD
CCP110	O43303	p.Pro617Thr	rs866623157	missense variant	-	NC_000016.10:g.19537518C>A	TOPMed,gnomAD
CCP110	O43303	p.Glu618Lys	rs773337958	missense variant	-	NC_000016.10:g.19537521G>A	gnomAD
CCP110	O43303	p.Arg620LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.19537521_19537522insA	NCI-TCGA
CCP110	O43303	p.Arg620Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19537528G>T	NCI-TCGA
CCP110	O43303	p.Tyr621Cys	rs781427845	missense variant	-	NC_000016.10:g.19537531A>G	ExAC,gnomAD
CCP110	O43303	p.Pro622His	rs748200292	missense variant	-	NC_000016.10:g.19537534C>A	ExAC,gnomAD
CCP110	O43303	p.Lys623Glu	rs770926677	missense variant	-	NC_000016.10:g.19537536A>G	ExAC,gnomAD
CCP110	O43303	p.Gly624Glu	rs1266242065	missense variant	-	NC_000016.10:g.19537540G>A	gnomAD
CCP110	O43303	p.Gly626Asp	rs1218152542	missense variant	-	NC_000016.10:g.19537546G>A	TOPMed
CCP110	O43303	p.Gly626Arg	rs774136566	missense variant	-	NC_000016.10:g.19537545G>C	ExAC,gnomAD
CCP110	O43303	p.Phe627Ile	COSM3988301	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537548T>A	NCI-TCGA Cosmic
CCP110	O43303	p.Phe627Leu	rs775203473	missense variant	-	NC_000016.10:g.19537550C>G	ExAC,TOPMed
CCP110	O43303	p.Phe627Ser	rs760725833	missense variant	-	NC_000016.10:g.19537549T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Val628Ile	rs17853681	missense variant	-	NC_000016.10:g.19537551G>A	ExAC,gnomAD
CCP110	O43303	p.Val628Phe	rs17853681	missense variant	-	NC_000016.10:g.19537551G>T	ExAC,gnomAD
CCP110	O43303	p.Asn629Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19537555A>G	NCI-TCGA
CCP110	O43303	p.Lys630Asn	rs1383084845	missense variant	-	NC_000016.10:g.19537559G>C	TOPMed
CCP110	O43303	p.Asn631Lys	rs199903716	missense variant	-	NC_000016.10:g.19537562T>A	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Met633Val	rs753366012	missense variant	-	NC_000016.10:g.19537566A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met633Ile	rs139492936	missense variant	-	NC_000016.10:g.19537568G>C	ESP,ExAC,gnomAD
CCP110	O43303	p.Met633Ile	rs139492936	missense variant	-	NC_000016.10:g.19537568G>A	ESP,ExAC,gnomAD
CCP110	O43303	p.Gly635Ala	rs1343816605	missense variant	-	NC_000016.10:g.19537573G>C	gnomAD
CCP110	O43303	p.Thr636Ile	rs1404540801	missense variant	-	NC_000016.10:g.19537576C>T	gnomAD
CCP110	O43303	p.Ser637Ile	rs150018784	missense variant	-	NC_000016.10:g.19537579G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys639Thr	rs1222194264	missense variant	-	NC_000016.10:g.19537585A>C	gnomAD
CCP110	O43303	p.Lys639Asn	rs1284112231	missense variant	-	NC_000016.10:g.19537586A>T	gnomAD
CCP110	O43303	p.Lys639PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.19537582_19537583insATTTCCA	NCI-TCGA
CCP110	O43303	p.Glu642Lys	rs776233198	missense variant	-	NC_000016.10:g.19540662G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu643Gln	rs761451591	missense variant	-	NC_000016.10:g.19540665G>C	ExAC,gnomAD
CCP110	O43303	p.Glu643Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19540667G>T	NCI-TCGA
CCP110	O43303	p.Glu643Ter	rs761451591	stop gained	-	NC_000016.10:g.19540665G>T	ExAC,gnomAD
CCP110	O43303	p.Leu645Pro	rs144284874	missense variant	-	NC_000016.10:g.19540672T>C	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser647Cys	rs369807084	missense variant	-	NC_000016.10:g.19540677A>T	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser647AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.19540673A>-	NCI-TCGA
CCP110	O43303	p.Lys648Arg	rs766953464	missense variant	-	NC_000016.10:g.19540681A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met649Ile	rs1203162904	missense variant	-	NC_000016.10:g.19540685G>A	TOPMed,gnomAD
CCP110	O43303	p.Met649Val	COSM967904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19540683A>G	NCI-TCGA Cosmic
CCP110	O43303	p.Leu650Phe	rs755374220	missense variant	-	NC_000016.10:g.19540688A>C	ExAC,gnomAD
CCP110	O43303	p.Phe652Leu	rs767894263	missense variant	-	NC_000016.10:g.19540692T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg656Trp	rs142593876	missense variant	-	NC_000016.10:g.19540704C>T	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg656Gln	rs147645157	missense variant	-	NC_000016.10:g.19540705G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg658Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19540711G>A	NCI-TCGA
CCP110	O43303	p.His663Arg	rs1416176734	missense variant	-	NC_000016.10:g.19540726A>G	gnomAD
CCP110	O43303	p.Ala664Thr	rs746844150	missense variant	-	NC_000016.10:g.19540728G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gln665Ter	rs1051556434	stop gained	-	NC_000016.10:g.19540731C>T	TOPMed
CCP110	O43303	p.Ser668Ter	rs1477912137	stop gained	-	NC_000016.10:g.19540741C>G	TOPMed
CCP110	O43303	p.Ile671Thr	rs566760938	missense variant	-	NC_000016.10:g.19540750T>C	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Ala672Thr	rs747768054	missense variant	-	NC_000016.10:g.19540752G>A	ExAC,gnomAD
CCP110	O43303	p.Glu675Gly	rs1376359288	missense variant	-	NC_000016.10:g.19540762A>G	TOPMed
CCP110	O43303	p.Glu675Asp	rs772629886	missense variant	-	NC_000016.10:g.19540763A>C	ExAC,gnomAD
CCP110	O43303	p.Gln678Ter	rs144491978	stop gained	-	NC_000016.10:g.19540770C>T	ESP
CCP110	O43303	p.Glu679Lys	rs762477128	missense variant	-	NC_000016.10:g.19540773G>A	ExAC,gnomAD
CCP110	O43303	p.Arg680Ser	rs1213591623	missense variant	-	NC_000016.10:g.19540778A>T	gnomAD
CCP110	O43303	p.Arg680Lys	rs767043483	missense variant	-	NC_000016.10:g.19540777G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu686Lys	rs1272219307	missense variant	-	NC_000016.10:g.19541893G>A	gnomAD
CCP110	O43303	p.Gln688His	rs201795702	missense variant	-	NC_000016.10:g.19541901G>T	1000Genomes
CCP110	O43303	p.Gln688Arg	rs772888459	missense variant	-	NC_000016.10:g.19541900A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu689Gln	COSM6078642	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19541902G>C	NCI-TCGA Cosmic
CCP110	O43303	p.Glu689Ter	NCI-TCGA novel	frameshift	-	NC_000016.10:g.19541898_19541925GCAGGAGAAAATGTTAAAAGAGAAGAAG>-	NCI-TCGA
CCP110	O43303	p.Lys690Glu	rs748796315	missense variant	-	NC_000016.10:g.19541905A>G	ExAC,gnomAD
CCP110	O43303	p.Lys690Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19541907A>C	NCI-TCGA
CCP110	O43303	p.Lys693Gln	COSM1376297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19541914A>C	NCI-TCGA Cosmic
CCP110	O43303	p.Glu694Lys	rs770549152	missense variant	-	NC_000016.10:g.19541917G>A	ExAC
CCP110	O43303	p.Glu694Asp	rs775061739	missense variant	-	NC_000016.10:g.19541919G>C	ExAC,TOPMed
CCP110	O43303	p.Lys695Glu	rs540646331	missense variant	-	NC_000016.10:g.19541920A>G	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Ala697Ser	rs775752673	missense variant	-	NC_000016.10:g.19541926G>T	ExAC,gnomAD
CCP110	O43303	p.Met698Val	rs1466673046	missense variant	-	NC_000016.10:g.19541929A>G	gnomAD
CCP110	O43303	p.Ala700Val	rs562195808	missense variant	-	NC_000016.10:g.19541936C>T	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser703Pro	rs761949461	missense variant	-	NC_000016.10:g.19541944T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser703Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19541945C>T	NCI-TCGA
CCP110	O43303	p.Glu704Gln	rs1411168645	missense variant	-	NC_000016.10:g.19541947G>C	TOPMed
CCP110	O43303	p.Ile707Val	rs765305529	missense variant	-	NC_000016.10:g.19541956A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile707Leu	rs765305529	missense variant	-	NC_000016.10:g.19541956A>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asn708Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19541961C>A	NCI-TCGA
CCP110	O43303	p.Val711Met	rs371262129	missense variant	-	NC_000016.10:g.19541968G>A	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu712Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.19541971G>T	NCI-TCGA
CCP110	O43303	p.Trp715Cys	rs1219437666	missense variant	-	NC_000016.10:g.19541982G>C	gnomAD
CCP110	O43303	p.Trp715Ter	rs1474055645	stop gained	-	NC_000016.10:g.19541981G>A	TOPMed
CCP110	O43303	p.Lys717Asn	rs781142893	missense variant	-	NC_000016.10:g.19541988A>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile718Thr	rs752473226	missense variant	-	NC_000016.10:g.19541990T>C	ExAC,gnomAD
CCP110	O43303	p.Ser719Ile	rs368856612	missense variant	-	NC_000016.10:g.19541993G>T	ESP,ExAC,gnomAD
CCP110	O43303	p.Ser719Asn	rs368856612	missense variant	-	NC_000016.10:g.19541993G>A	ESP,ExAC,gnomAD
CCP110	O43303	p.Asp720His	rs777346390	missense variant	-	NC_000016.10:g.19541995G>C	ExAC,gnomAD
CCP110	O43303	p.Ser721Cys	COSM4851609	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19541999C>G	NCI-TCGA Cosmic
CCP110	O43303	p.Ser722Asn	rs1188428653	missense variant	-	NC_000016.10:g.19542002G>A	TOPMed
CCP110	O43303	p.Leu723Phe	rs1472195964	missense variant	-	NC_000016.10:g.19542006G>T	TOPMed
CCP110	O43303	p.Glu725Lys	rs770637166	missense variant	-	NC_000016.10:g.19542010G>A	ExAC,gnomAD
CCP110	O43303	p.Met727Val	rs1489813584	missense variant	-	NC_000016.10:g.19542016A>G	gnomAD
CCP110	O43303	p.Ser729Pro	rs1267008556	missense variant	-	NC_000016.10:g.19542022T>C	gnomAD
CCP110	O43303	p.Ser729Phe	rs1433783462	missense variant	-	NC_000016.10:g.19542023C>T	gnomAD
CCP110	O43303	p.Gln730Arg	rs1201092647	missense variant	-	NC_000016.10:g.19542026A>G	gnomAD
CCP110	O43303	p.Gln730Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542025C>G	NCI-TCGA
CCP110	O43303	p.Ala731Val	rs563120135	missense variant	-	NC_000016.10:g.19542029C>T	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ala731Thr	rs971664346	missense variant	-	NC_000016.10:g.19542028G>A	TOPMed
CCP110	O43303	p.Asp732Tyr	rs1159835337	missense variant	-	NC_000016.10:g.19542031G>T	TOPMed,gnomAD
CCP110	O43303	p.Asp732His	rs1159835337	missense variant	-	NC_000016.10:g.19542031G>C	TOPMed,gnomAD
CCP110	O43303	p.Thr736Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542044C>G	NCI-TCGA
CCP110	O43303	p.Ser737Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.19542047C>G	NCI-TCGA
CCP110	O43303	p.Asn738Lys	rs776046434	missense variant	-	NC_000016.10:g.19542051T>A	ExAC,gnomAD
CCP110	O43303	p.Asn738Ser	rs371244665	missense variant	-	NC_000016.10:g.19542050A>G	ESP,TOPMed,gnomAD
CCP110	O43303	p.Asn738Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542049A>G	NCI-TCGA
CCP110	O43303	p.Asn740Ser	rs761006071	missense variant	-	NC_000016.10:g.19542056A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser741Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542059G>T	NCI-TCGA
CCP110	O43303	p.Ser742Tyr	rs776794331	missense variant	-	NC_000016.10:g.19542062C>A	ExAC,gnomAD
CCP110	O43303	p.Gly743Ser	rs1164378711	missense variant	-	NC_000016.10:g.19542064G>A	gnomAD
CCP110	O43303	p.Ala748Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542636C>T	NCI-TCGA
CCP110	O43303	p.Ala748Thr	rs1389660139	missense variant	-	NC_000016.10:g.19542635G>A	TOPMed
CCP110	O43303	p.Met749Ile	rs1371242319	missense variant	-	NC_000016.10:g.19542640G>A	TOPMed
CCP110	O43303	p.Met749Val	rs773399658	missense variant	-	NC_000016.10:g.19542638A>G	ExAC,gnomAD
CCP110	O43303	p.Gln750Arg	rs533898354	missense variant	-	NC_000016.10:g.19542642A>G	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Tyr751His	rs1249900436	missense variant	-	NC_000016.10:g.19542644T>C	gnomAD
CCP110	O43303	p.Ser752Arg	rs774226202	missense variant	-	NC_000016.10:g.19542649C>A	ExAC,gnomAD
CCP110	O43303	p.Phe753Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542650T>G	NCI-TCGA
CCP110	O43303	p.Ser755Phe	rs1206784107	missense variant	-	NC_000016.10:g.19542657C>T	gnomAD
CCP110	O43303	p.Asn757Lys	rs375415222	missense variant	-	NC_000016.10:g.19542664C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asn757Lys	rs375415222	missense variant	-	NC_000016.10:g.19542664C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu758Lys	rs757100100	missense variant	-	NC_000016.10:g.19542665G>A	ExAC,gnomAD
CCP110	O43303	p.Pro760Ser	rs201430972	missense variant	-	NC_000016.10:g.19542671C>T	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Pro760Leu	rs1463352845	missense variant	-	NC_000016.10:g.19542672C>T	TOPMed
CCP110	O43303	p.Tyr762His	rs374662783	missense variant	-	NC_000016.10:g.19542677T>C	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Tyr762Ser	rs200392345	missense variant	-	NC_000016.10:g.19542678A>C	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Tyr762Cys	rs200392345	missense variant	-	NC_000016.10:g.19542678A>G	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Leu763Val	rs377710709	missense variant	-	NC_000016.10:g.19542680C>G	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser767Leu	rs1465625610	missense variant	-	NC_000016.10:g.19542693C>T	gnomAD
CCP110	O43303	p.Thr768Ala	rs570527798	missense variant	-	NC_000016.10:g.19542695A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ser769Cys	rs1177308446	missense variant	-	NC_000016.10:g.19542698A>T	TOPMed
CCP110	O43303	p.Leu771Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542706G>T	NCI-TCGA
CCP110	O43303	p.Thr777Arg	rs1215245738	missense variant	-	NC_000016.10:g.19542723C>G	TOPMed
CCP110	O43303	p.Phe780Leu	rs137959470	missense variant	-	NC_000016.10:g.19542733T>A	ESP,ExAC,gnomAD
CCP110	O43303	p.Gly781Arg	rs1303396673	missense variant	-	NC_000016.10:g.19542734G>A	gnomAD
CCP110	O43303	p.Ala783Gly	rs773487487	missense variant	-	NC_000016.10:g.19542741C>G	ExAC,gnomAD
CCP110	O43303	p.Arg786Gly	rs770997702	missense variant	-	NC_000016.10:g.19542749A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gln789Ter	rs1368214649	stop gained	-	NC_000016.10:g.19542758C>T	gnomAD
CCP110	O43303	p.Gln789Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542758C>G	NCI-TCGA
CCP110	O43303	p.Gln789Arg	rs1219286582	missense variant	-	NC_000016.10:g.19542759A>G	TOPMed,gnomAD
CCP110	O43303	p.Ala797Pro	rs751120540	missense variant	-	NC_000016.10:g.19542899G>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys798Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542903A>C	NCI-TCGA
CCP110	O43303	p.Asn800Lys	rs781706317	missense variant	-	NC_000016.10:g.19542910C>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys801Gln	rs1214026141	missense variant	-	NC_000016.10:g.19542911A>C	TOPMed,gnomAD
CCP110	O43303	p.Ile802Met	rs1203185584	missense variant	-	NC_000016.10:g.19542916A>G	TOPMed
CCP110	O43303	p.Ala806Gly	rs1261247160	missense variant	-	NC_000016.10:g.19542927C>G	TOPMed
CCP110	O43303	p.Lys807Glu	rs1233563623	missense variant	-	NC_000016.10:g.19542929A>G	TOPMed
CCP110	O43303	p.Leu810Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19542938C>G	NCI-TCGA
CCP110	O43303	p.Arg812His	rs756544114	missense variant	-	NC_000016.10:g.19542945G>A	ExAC,gnomAD
CCP110	O43303	p.Arg812Cys	COSM1376298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19542944C>T	NCI-TCGA Cosmic
CCP110	O43303	p.Arg812Ser	COSM434767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19542944C>A	NCI-TCGA Cosmic
CCP110	O43303	p.Arg812Leu	rs756544114	missense variant	-	NC_000016.10:g.19542945G>T	ExAC,gnomAD
CCP110	O43303	p.Arg812Gly	rs748648698	missense variant	-	NC_000016.10:g.19542944C>G	ExAC,gnomAD
CCP110	O43303	p.Leu814Val	rs1301409466	missense variant	-	NC_000016.10:g.19542950C>G	TOPMed
CCP110	O43303	p.Met815Ile	rs1477375024	missense variant	-	NC_000016.10:g.19542955G>T	gnomAD
CCP110	O43303	p.Gln816Leu	rs1427130599	missense variant	-	NC_000016.10:g.19542957A>T	gnomAD
CCP110	O43303	p.Gln816Glu	rs1191272642	missense variant	-	NC_000016.10:g.19542956C>G	gnomAD
CCP110	O43303	p.Asp818Asn	rs149194732	missense variant	-	NC_000016.10:g.19542962G>A	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Lys819Glu	rs1158026232	missense variant	-	NC_000016.10:g.19542965A>G	gnomAD
CCP110	O43303	p.Gln822His	rs771212845	missense variant	-	NC_000016.10:g.19542976A>C	ExAC,gnomAD
CCP110	O43303	p.Gln822Leu	rs749562029	missense variant	-	NC_000016.10:g.19542975A>T	ExAC,gnomAD
CCP110	O43303	p.Leu823Ile	rs964391612	missense variant	-	NC_000016.10:g.19542977C>A	TOPMed
CCP110	O43303	p.Arg824Gln	rs772276382	missense variant	-	NC_000016.10:g.19542981G>A	ExAC,gnomAD
CCP110	O43303	p.Arg824Ter	rs746021450	stop gained	-	NC_000016.10:g.19542980C>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met831Thr	rs185526932	missense variant	-	NC_000016.10:g.19544804T>C	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Ile834Met	rs765266598	missense variant	-	NC_000016.10:g.19544814A>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile834Leu	rs1331195805	missense variant	-	NC_000016.10:g.19544812A>C	gnomAD
CCP110	O43303	p.Arg835Lys	rs757554233	missense variant	-	NC_000016.10:g.19544816G>A	ExAC,gnomAD
CCP110	O43303	p.Ser836Arg	rs779263989	missense variant	-	NC_000016.10:g.19544818A>C	ExAC,gnomAD
CCP110	O43303	p.Gln838Arg	rs1228506242	missense variant	-	NC_000016.10:g.19544825A>G	gnomAD
CCP110	O43303	p.Ser839Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.19544828C>G	NCI-TCGA
CCP110	O43303	p.Ala841Pro	rs1236424796	missense variant	-	NC_000016.10:g.19544833G>C	TOPMed
CCP110	O43303	p.Gly846Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19544849G>A	NCI-TCGA
CCP110	O43303	p.Ile847Leu	rs947857573	missense variant	-	NC_000016.10:g.19544851A>C	TOPMed,gnomAD
CCP110	O43303	p.Ile847Val	rs947857573	missense variant	-	NC_000016.10:g.19544851A>G	TOPMed,gnomAD
CCP110	O43303	p.Ile847Thr	rs780305663	missense variant	-	NC_000016.10:g.19544852T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ala850Val	rs147470192	missense variant	-	NC_000016.10:g.19544861C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu857Ter	rs769893974	stop gained	-	NC_000016.10:g.19544881G>T	ExAC,gnomAD
CCP110	O43303	p.Glu857Gln	rs769893974	missense variant	-	NC_000016.10:g.19544881G>C	ExAC,gnomAD
CCP110	O43303	p.Glu857Gly	rs1181727149	missense variant	-	NC_000016.10:g.19544882A>G	gnomAD
CCP110	O43303	p.Glu857Lys	rs769893974	missense variant	-	NC_000016.10:g.19544881G>A	ExAC,gnomAD
CCP110	O43303	p.Arg858Thr	rs772999597	missense variant	-	NC_000016.10:g.19544885G>C	ExAC,gnomAD
CCP110	O43303	p.Val859Leu	COSM434768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19544887G>C	NCI-TCGA Cosmic
CCP110	O43303	p.Leu860Ser	rs1182650506	missense variant	-	NC_000016.10:g.19544891T>C	gnomAD
CCP110	O43303	p.Ala861Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19544894C>T	NCI-TCGA
CCP110	O43303	p.Arg864Gln	rs780391815	missense variant	-	NC_000016.10:g.19545098G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg864Ter	rs1476977305	stop gained	-	NC_000016.10:g.19545097C>T	TOPMed,gnomAD
CCP110	O43303	p.Ala865Gly	rs1424387169	missense variant	-	NC_000016.10:g.19545101C>G	gnomAD
CCP110	O43303	p.Tyr868Phe	rs747135278	missense variant	-	NC_000016.10:g.19545110A>T	ExAC,gnomAD
CCP110	O43303	p.Gly869Ser	rs777831149	missense variant	-	NC_000016.10:g.19545112G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ile870Val	rs1415338960	missense variant	-	NC_000016.10:g.19545115A>G	gnomAD
CCP110	O43303	p.His871Arg	rs1336597371	missense variant	-	NC_000016.10:g.19545119A>G	gnomAD
CCP110	O43303	p.Asp872Asn	rs749185007	missense variant	-	NC_000016.10:g.19545121G>A	ExAC,gnomAD
CCP110	O43303	p.Ile873Val	rs1163370109	missense variant	-	NC_000016.10:g.19545124A>G	TOPMed
CCP110	O43303	p.Phe875Val	rs770840968	missense variant	-	NC_000016.10:g.19545130T>G	ExAC,gnomAD
CCP110	O43303	p.Ala880Thr	rs774035752	missense variant	-	NC_000016.10:g.19545145G>A	ExAC
CCP110	O43303	p.Arg882Ile	rs1230454918	missense variant	-	NC_000016.10:g.19545152G>T	gnomAD
CCP110	O43303	p.Ile885Val	rs771749310	missense variant	-	NC_000016.10:g.19545160A>G	ExAC,gnomAD
CCP110	O43303	p.His887Arg	rs972862361	missense variant	-	NC_000016.10:g.19545167A>G	TOPMed
CCP110	O43303	p.His887Tyr	rs138289332	missense variant	-	NC_000016.10:g.19545166C>T	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.His888Asn	rs751816493	missense variant	-	NC_000016.10:g.19545169C>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg890Gln	rs142274455	missense variant	-	NC_000016.10:g.19545176G>A	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg890Pro	rs142274455	missense variant	-	NC_000016.10:g.19545176G>C	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg890Ter	rs1216160727	stop gained	-	NC_000016.10:g.19545175C>T	gnomAD
CCP110	O43303	p.Val892Phe	rs556543609	missense variant	-	NC_000016.10:g.19545181G>T	TOPMed,gnomAD
CCP110	O43303	p.Arg893His	rs200116540	missense variant	-	NC_000016.10:g.19545185G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg893Cys	rs762250914	missense variant	-	NC_000016.10:g.19545184C>T	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg893Ser	rs762250914	missense variant	-	NC_000016.10:g.19545184C>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu895Lys	rs1263610561	missense variant	-	NC_000016.10:g.19545190G>A	TOPMed
CCP110	O43303	p.Lys896Arg	rs1478628312	missense variant	-	NC_000016.10:g.19545194A>G	gnomAD
CCP110	O43303	p.Met897Thr	rs200495908	missense variant	-	NC_000016.10:g.19545197T>C	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Arg899Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19545203G>A	NCI-TCGA
CCP110	O43303	p.Gln900Arg	rs758814543	missense variant	-	NC_000016.10:g.19545206A>G	ExAC,gnomAD
CCP110	O43303	p.Met901Leu	rs766764369	missense variant	-	NC_000016.10:g.19545208A>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Asp902Ala	rs976220859	missense variant	-	NC_000016.10:g.19545818A>C	TOPMed
CCP110	O43303	p.Met904Leu	rs773843576	missense variant	-	NC_000016.10:g.19545823A>T	ExAC
CCP110	O43303	p.Lys905Arg	rs1319741423	missense variant	-	NC_000016.10:g.19545827A>G	gnomAD
CCP110	O43303	p.Arg908Gln	rs1265139140	missense variant	-	NC_000016.10:g.19545836G>A	gnomAD
CCP110	O43303	p.Arg908Ter	rs555141039	stop gained	-	NC_000016.10:g.19545835C>T	ExAC,gnomAD
CCP110	O43303	p.Arg908Leu	rs1265139140	missense variant	-	NC_000016.10:g.19545836G>T	gnomAD
CCP110	O43303	p.Val909Met	rs1207713608	missense variant	-	NC_000016.10:g.19545838G>A	TOPMed,gnomAD
CCP110	O43303	p.Ala914Thr	rs766853042	missense variant	-	NC_000016.10:g.19545853G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Thr915Ala	rs1353619475	missense variant	-	NC_000016.10:g.19545856A>G	TOPMed
CCP110	O43303	p.Leu919Val	rs1275740399	missense variant	-	NC_000016.10:g.19545868C>G	TOPMed,gnomAD
CCP110	O43303	p.Arg921Lys	rs1246206002	missense variant	-	NC_000016.10:g.19545875G>A	TOPMed
CCP110	O43303	p.Tyr924His	rs751912759	missense variant	-	NC_000016.10:g.19545883T>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Tyr924Asp	rs751912759	missense variant	-	NC_000016.10:g.19545883T>G	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met925Ile	rs565340675	missense variant	-	NC_000016.10:g.19545888G>A	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Met925Thr	rs373258310	missense variant	-	NC_000016.10:g.19545887T>C	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Glu929Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.19546421A>C	NCI-TCGA
CCP110	O43303	p.Gly931Val	rs1433258669	missense variant	-	NC_000016.10:g.19546426G>T	gnomAD
CCP110	O43303	p.Met932Ile	rs1191110345	missense variant	-	NC_000016.10:g.19546430G>A	gnomAD
CCP110	O43303	p.Lys935Thr	rs1422277614	missense variant	-	NC_000016.10:g.19546438A>C	gnomAD
CCP110	O43303	p.Lys935Asn	COSM3420808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19546439G>T	NCI-TCGA Cosmic
CCP110	O43303	p.Lys936Glu	rs759910077	missense variant	-	NC_000016.10:g.19546440A>G	ExAC,gnomAD
CCP110	O43303	p.Phe937Ser	rs1172366259	missense variant	-	NC_000016.10:g.19546444T>C	gnomAD
CCP110	O43303	p.Lys940Asn	rs1337834368	missense variant	-	NC_000016.10:g.19546454A>T	TOPMed
CCP110	O43303	p.Thr946Pro	rs1465320150	missense variant	-	NC_000016.10:g.19546470A>C	gnomAD
CCP110	O43303	p.Thr946Ile	rs1303245438	missense variant	-	NC_000016.10:g.19546471C>T	gnomAD
CCP110	O43303	p.Thr946Ala	rs1465320150	missense variant	-	NC_000016.10:g.19546470A>G	gnomAD
CCP110	O43303	p.Arg947Lys	rs1412509523	missense variant	-	NC_000016.10:g.19546474G>A	TOPMed
CCP110	O43303	p.Val948Ile	rs1296506114	missense variant	-	NC_000016.10:g.19547956G>A	gnomAD
CCP110	O43303	p.Asn952Ser	rs747840221	missense variant	-	NC_000016.10:g.19547969A>G	ExAC,gnomAD
CCP110	O43303	p.Gln953Ter	rs769270708	stop gained	-	NC_000016.10:g.19547971C>T	ExAC,gnomAD
CCP110	O43303	p.Gln953Lys	rs769270708	missense variant	-	NC_000016.10:g.19547971C>A	ExAC,gnomAD
CCP110	O43303	p.Gly954Val	rs1480086313	missense variant	-	NC_000016.10:g.19547975G>T	TOPMed
CCP110	O43303	p.Gln955Lys	rs748764151	missense variant	-	NC_000016.10:g.19547977C>A	ExAC,gnomAD
CCP110	O43303	p.Gln955His	rs1365630260	missense variant	-	NC_000016.10:g.19547979G>T	TOPMed,gnomAD
CCP110	O43303	p.Gln955Glu	rs748764151	missense variant	-	NC_000016.10:g.19547977C>G	ExAC,gnomAD
CCP110	O43303	p.Ala957Val	rs746556110	missense variant	-	NC_000016.10:g.19547984C>T	gnomAD
CCP110	O43303	p.Pro958Thr	rs146625112	missense variant	-	NC_000016.10:g.19547986C>A	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Val959Leu	rs558126308	missense variant	-	NC_000016.10:g.19547989G>C	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg961Lys	rs759872553	missense variant	-	NC_000016.10:g.19547996G>A	ExAC,gnomAD
CCP110	O43303	p.Leu962Gln	rs1284809070	missense variant	-	NC_000016.10:g.19547999T>A	gnomAD
CCP110	O43303	p.Leu963Ile	rs1354013481	missense variant	-	NC_000016.10:g.19548001C>A	gnomAD
CCP110	O43303	p.Ser964Asn	rs372991582	missense variant	-	NC_000016.10:g.19548005G>A	ESP,ExAC,gnomAD
CCP110	O43303	p.Arg965Ile	rs1244452501	missense variant	-	NC_000016.10:g.19548008G>T	TOPMed,gnomAD
CCP110	O43303	p.Gly967Arg	rs535461454	missense variant	-	NC_000016.10:g.19548013G>A	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Gly967Arg	rs535461454	missense variant	-	NC_000016.10:g.19548013G>C	ExAC,TOPMed,gnomAD
CCP110	O43303	p.Thr968Ser	rs1404792561	missense variant	-	NC_000016.10:g.19548517C>G	gnomAD
CCP110	O43303	p.Gly975Glu	rs775958648	missense variant	-	NC_000016.10:g.19548538G>A	ExAC,gnomAD
CCP110	O43303	p.Val976Phe	rs1014247338	missense variant	-	NC_000016.10:g.19548540G>T	TOPMed,gnomAD
CCP110	O43303	p.Val976Ala	rs1331328210	missense variant	-	NC_000016.10:g.19548541T>C	TOPMed,gnomAD
CCP110	O43303	p.Val977Met	rs1042611389	missense variant	-	NC_000016.10:g.19548543G>A	gnomAD
CCP110	O43303	p.Gln981Lys	rs761949612	missense variant	-	NC_000016.10:g.19548555C>A	ExAC,gnomAD
CCP110	O43303	p.Ser986Arg	rs1489729810	missense variant	-	NC_000016.10:g.19548572C>G	TOPMed
CCP110	O43303	p.Arg987Lys	rs1315577702	missense variant	-	NC_000016.10:g.19548574G>A	gnomAD
CCP110	O43303	p.Asn990Ser	rs1197916640	missense variant	-	NC_000016.10:g.19548583A>G	gnomAD
CCP110	O43303	p.Pro993Leu	rs1439284266	missense variant	-	NC_000016.10:g.19548592C>T	gnomAD
CCP110	O43303	p.Ser995Ter	rs1207788885	stop gained	-	NC_000016.10:g.19548598C>G	gnomAD
CCP110	O43303	p.Val997Ala	rs1314386894	missense variant	-	NC_000016.10:g.19551199T>C	gnomAD
CCP110	O43303	p.Ala999Val	rs778510509	missense variant	-	NC_000016.10:g.19551205C>T	ExAC,gnomAD
CCP110	O43303	p.Ile1002Asn	rs1202723607	missense variant	-	NC_000016.10:g.19551214T>A	TOPMed
CCP110	O43303	p.Arg1004Ser	rs1341428071	missense variant	-	NC_000016.10:g.19551221A>C	gnomAD
CCP110	O43303	p.Lys1005Gln	rs758988242	missense variant	-	NC_000016.10:g.19551222A>C	ExAC,gnomAD
CCP110	O43303	p.Lys1005Met	rs780404219	missense variant	-	NC_000016.10:g.19551223A>T	ExAC,gnomAD
CCP110	O43303	p.Arg1006Trp	rs574908955	missense variant	-	NC_000016.10:g.19551225C>T	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Arg1006Leu	COSM6143849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19551226G>T	NCI-TCGA Cosmic
CCP110	O43303	p.Arg1006Gln	rs141344673	missense variant	-	NC_000016.10:g.19551226G>A	1000Genomes,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Pro1007Ala	rs578098050	missense variant	-	NC_000016.10:g.19551228C>G	1000Genomes,ExAC,gnomAD
CCP110	O43303	p.Asn1008His	COSM967908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19551231A>C	NCI-TCGA Cosmic
CCP110	O43303	p.Asn1008Asp	rs1193069174	missense variant	-	NC_000016.10:g.19551231A>G	gnomAD
CCP110	O43303	p.Val1009Ala	rs748381130	missense variant	-	NC_000016.10:g.19551235T>C	ExAC
CCP110	O43303	p.Ala1010Val	rs374369419	missense variant	-	NC_000016.10:g.19551238C>T	ESP,ExAC,TOPMed,gnomAD
CCP110	O43303	p.Ala1010Thr	rs1356299324	missense variant	-	NC_000016.10:g.19551237G>A	TOPMed
CCP110	O43303	p.Thr1011Ala	rs1424882069	missense variant	-	NC_000016.10:g.19551240A>G	gnomAD
CCP110	O43303	p.Ter1013Leu	rs1399124688	stop lost	-	NC_000016.10:g.19551247A>T	TOPMed
HOXA2	O43364	p.Asn2Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102496T>G	NCI-TCGA
HOXA2	O43364	p.Glu4Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102491C>T	NCI-TCGA
HOXA2	O43364	p.Phe5Leu	rs1169077683	missense variant	-	NC_000007.14:g.27102488A>G	TOPMed
HOXA2	O43364	p.Phe5Leu	rs377592897	missense variant	-	NC_000007.14:g.27102486A>T	ESP,ExAC,TOPMed
HOXA2	O43364	p.Ile9Thr	rs146562288	missense variant	-	NC_000007.14:g.27102475A>G	ESP,ExAC,gnomAD
HOXA2	O43364	p.Gly10Asp	rs900766307	missense variant	-	NC_000007.14:g.27102472C>T	TOPMed
HOXA2	O43364	p.Ser14Gly	rs1325271483	missense variant	-	NC_000007.14:g.27102461T>C	TOPMed
HOXA2	O43364	p.Gln15Arg	rs1009544450	missense variant	-	NC_000007.14:g.27102457T>C	TOPMed
HOXA2	O43364	p.Ala19Ser	COSM746322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27102446C>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Ala19Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102446C>T	NCI-TCGA
HOXA2	O43364	p.Glu20Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102442T>C	NCI-TCGA
HOXA2	O43364	p.Leu22Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102437G>T	NCI-TCGA
HOXA2	O43364	p.Thr23Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102434T>A	NCI-TCGA
HOXA2	O43364	p.Ser24Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102431A>T	NCI-TCGA
HOXA2	O43364	p.Phe25Ser	rs1486523031	missense variant	-	NC_000007.14:g.27102427A>G	TOPMed
HOXA2	O43364	p.Pro26Ser	rs777207853	missense variant	-	NC_000007.14:g.27102425G>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Pro27LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27102426A>-	NCI-TCGA
HOXA2	O43364	p.Pro27Leu	rs187162003	missense variant	-	NC_000007.14:g.27102421G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Pro27Arg	rs187162003	missense variant	-	NC_000007.14:g.27102421G>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ala29Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102416C>T	NCI-TCGA
HOXA2	O43364	p.Ala29Asp	rs774102766	missense variant	-	NC_000007.14:g.27102415G>T	ExAC,gnomAD
HOXA2	O43364	p.Ala29Val	rs774102766	missense variant	-	NC_000007.14:g.27102415G>A	ExAC,gnomAD
HOXA2	O43364	p.Asp30Val	COSM3411956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27102412T>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Asp30Asn	rs1391121068	missense variant	-	NC_000007.14:g.27102413C>T	gnomAD
HOXA2	O43364	p.Thr31Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102410T>A	NCI-TCGA
HOXA2	O43364	p.Thr31Ala	rs768054290	missense variant	-	NC_000007.14:g.27102410T>C	ExAC,gnomAD
HOXA2	O43364	p.Gln33Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.27102404G>A	NCI-TCGA
HOXA2	O43364	p.Ser34Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102399A>C	NCI-TCGA
HOXA2	O43364	p.Ser35Pro	rs1174597834	missense variant	-	NC_000007.14:g.27102398A>G	gnomAD
HOXA2	O43364	p.Ser36Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.27102394G>C	NCI-TCGA
HOXA2	O43364	p.Ser36Pro	rs1053687605	missense variant	-	NC_000007.14:g.27102395A>G	TOPMed,gnomAD
HOXA2	O43364	p.Ile37Val	rs748771086	missense variant	-	NC_000007.14:g.27102392T>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Lys38Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102387C>A	NCI-TCGA
HOXA2	O43364	p.Lys38Asn	rs934753634	missense variant	-	NC_000007.14:g.27102387C>G	TOPMed
HOXA2	O43364	p.Thr39Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102386T>A	NCI-TCGA
HOXA2	O43364	p.Thr39Ile	rs1015940429	missense variant	-	NC_000007.14:g.27102385G>A	gnomAD
HOXA2	O43364	p.Ser40Leu	rs1376957261	missense variant	-	NC_000007.14:g.27102382G>A	TOPMed
HOXA2	O43364	p.Ser40Ala	rs774846881	missense variant	-	NC_000007.14:g.27102383A>C	ExAC,gnomAD
HOXA2	O43364	p.Leu42Phe	rs769835361	missense variant	-	NC_000007.14:g.27102377G>A	ExAC,gnomAD
HOXA2	O43364	p.Leu42Val	rs769835361	missense variant	-	NC_000007.14:g.27102377G>C	ExAC,gnomAD
HOXA2	O43364	p.His44Gln	rs1179402139	missense variant	-	NC_000007.14:g.27102369G>C	gnomAD
HOXA2	O43364	p.Ser45Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102367G>A	NCI-TCGA
HOXA2	O43364	p.Ser45Ala	rs745761688	missense variant	-	NC_000007.14:g.27102368A>C	ExAC
HOXA2	O43364	p.Leu47Arg	rs1212639456	missense variant	-	NC_000007.14:g.27102361A>C	gnomAD
HOXA2	O43364	p.Pro49Ala	rs969176382	missense variant	-	NC_000007.14:g.27102356G>C	TOPMed,gnomAD
HOXA2	O43364	p.Pro51Ala	rs756997716	missense variant	-	NC_000007.14:g.27102350G>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Phe52LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27102345A>-	NCI-TCGA
HOXA2	O43364	p.Ile56Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102334A>C	NCI-TCGA
HOXA2	O43364	p.Ile56Val	rs747264534	missense variant	-	NC_000007.14:g.27102335T>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser58Arg	rs757179919	missense variant	-	NC_000007.14:g.27102327G>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Pro61His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102319G>T	NCI-TCGA
HOXA2	O43364	p.Gly62Ser	rs778857731	missense variant	-	NC_000007.14:g.27102317C>T	ExAC,gnomAD
HOXA2	O43364	p.Gly62Cys	rs778857731	missense variant	-	NC_000007.14:g.27102317C>A	ExAC,gnomAD
HOXA2	O43364	p.Ser63Asn	rs1348790535	missense variant	-	NC_000007.14:g.27102313C>T	TOPMed
HOXA2	O43364	p.His64Pro	rs761816750	missense variant	-	NC_000007.14:g.27102310T>G	gnomAD
HOXA2	O43364	p.Pro65Ala	rs555246646	missense variant	-	NC_000007.14:g.27102308G>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Arg66His	rs1421522055	missense variant	-	NC_000007.14:g.27102304C>T	gnomAD
HOXA2	O43364	p.Arg66Leu	rs1421522055	missense variant	-	NC_000007.14:g.27102304C>A	gnomAD
HOXA2	O43364	p.Arg66Cys	rs1298901271	missense variant	-	NC_000007.14:g.27102305G>A	gnomAD
HOXA2	O43364	p.Gly68Ser	rs761051577	missense variant	-	NC_000007.14:g.27102299C>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gly68Cys	rs761051577	missense variant	-	NC_000007.14:g.27102299C>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ala69Ser	COSM4931586	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27102296C>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Ala69Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102296C>T	NCI-TCGA
HOXA2	O43364	p.Gly70Val	rs1311620339	missense variant	-	NC_000007.14:g.27102292C>A	TOPMed,gnomAD
HOXA2	O43364	p.Gly71Ser	rs1368873477	missense variant	-	NC_000007.14:g.27102290C>T	gnomAD
HOXA2	O43364	p.Arg72His	COSM3880390	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27102286C>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Arg72Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102287G>A	NCI-TCGA
HOXA2	O43364	p.Pro77Leu	rs759492574	missense variant	-	NC_000007.14:g.27102271G>A	ExAC,gnomAD
HOXA2	O43364	p.Pro77His	rs759492574	missense variant	-	NC_000007.14:g.27102271G>T	ExAC,gnomAD
HOXA2	O43364	p.Pro77Thr	rs769164404	missense variant	-	NC_000007.14:g.27102272G>T	ExAC,gnomAD
HOXA2	O43364	p.Ala78Val	rs1205106631	missense variant	-	NC_000007.14:g.27102268G>A	gnomAD
HOXA2	O43364	p.Gly79Val	rs770719215	missense variant	-	NC_000007.14:g.27102265C>A	ExAC,gnomAD
HOXA2	O43364	p.Arg81Ser	rs746750068	missense variant	-	NC_000007.14:g.27102260G>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Arg81Cys	rs746750068	missense variant	-	NC_000007.14:g.27102260G>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Pro84Arg	rs1355069392	missense variant	-	NC_000007.14:g.27102250G>C	gnomAD
HOXA2	O43364	p.Pro86Thr	rs552586989	missense variant	-	NC_000007.14:g.27102245G>T	1000Genomes,ExAC,gnomAD
HOXA2	O43364	p.Gln91His	rs1394481183	missense variant	-	NC_000007.14:g.27102228C>G	TOPMed
HOXA2	O43364	p.Glu94Gly	rs943539092	missense variant	-	NC_000007.14:g.27102220T>C	TOPMed,gnomAD
HOXA2	O43364	p.Glu94Lys	rs1043147767	missense variant	-	NC_000007.14:g.27102221C>T	TOPMed
HOXA2	O43364	p.Lys99Arg	rs748291367	missense variant	-	NC_000007.14:g.27102205T>C	ExAC,gnomAD
HOXA2	O43364	p.Lys102Glu	rs889283388	missense variant	-	NC_000007.14:g.27102197T>C	gnomAD
HOXA2	O43364	p.Lys102Thr	rs1052478331	missense variant	-	NC_000007.14:g.27102196T>G	gnomAD
HOXA2	O43364	p.Ala103Glu	rs1165363050	missense variant	-	NC_000007.14:g.27102193G>T	gnomAD
HOXA2	O43364	p.Lys105Glu	rs950463310	missense variant	-	NC_000007.14:g.27102188T>C	TOPMed
HOXA2	O43364	p.Lys106Arg	rs1027376181	missense variant	-	NC_000007.14:g.27102184T>C	TOPMed
HOXA2	O43364	p.Ala108Thr	rs1268681908	missense variant	-	NC_000007.14:g.27102179C>T	TOPMed
HOXA2	O43364	p.Leu109Phe	rs1458774420	missense variant	-	NC_000007.14:g.27102176G>A	TOPMed,gnomAD
HOXA2	O43364	p.Leu110Gln	rs754397883	missense variant	-	NC_000007.14:g.27102172A>T	ExAC,gnomAD
HOXA2	O43364	p.Pro111Gln	rs780647022	missense variant	-	NC_000007.14:g.27102169G>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Pro111Thr	rs1191788818	missense variant	-	NC_000007.14:g.27102170G>T	TOPMed,gnomAD
HOXA2	O43364	p.Pro111Leu	rs780647022	missense variant	-	NC_000007.14:g.27102169G>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ala112Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102167C>T	NCI-TCGA
HOXA2	O43364	p.Ala113Val	rs200386246	missense variant	-	NC_000007.14:g.27102163G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ala115Thr	rs1212363127	missense variant	-	NC_000007.14:g.27102158C>T	TOPMed,gnomAD
HOXA2	O43364	p.Ala116Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102155C>T	NCI-TCGA
HOXA2	O43364	p.Ala117Ser	rs867890451	missense variant	-	NC_000007.14:g.27102152C>A	TOPMed,gnomAD
HOXA2	O43364	p.Ala117Thr	rs867890451	missense variant	-	NC_000007.14:g.27102152C>T	TOPMed,gnomAD
HOXA2	O43364	p.Thr118Ile	rs767741182	missense variant	-	NC_000007.14:g.27102148G>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Thr118Ala	rs750882072	missense variant	-	NC_000007.14:g.27102149T>C	ExAC,TOPMed
HOXA2	O43364	p.Ala119Ser	rs369906511	missense variant	-	NC_000007.14:g.27102146C>A	ESP,TOPMed
HOXA2	O43364	p.Ala120Glu	rs1269695013	missense variant	-	NC_000007.14:g.27102142G>T	gnomAD
HOXA2	O43364	p.Ala120Val	rs1269695013	missense variant	-	NC_000007.14:g.27102142G>A	gnomAD
HOXA2	O43364	p.Thr122Ile	rs752243932	missense variant	-	NC_000007.14:g.27102136G>A	ExAC
HOXA2	O43364	p.Thr122Ser	rs1231337235	missense variant	-	NC_000007.14:g.27102137T>A	TOPMed
HOXA2	O43364	p.Gly123Val	rs894512210	missense variant	-	NC_000007.14:g.27102133C>A	TOPMed
HOXA2	O43364	p.Gly123Arg	rs758981616	missense variant	-	NC_000007.14:g.27102134C>G	ExAC,gnomAD
HOXA2	O43364	p.Pro124His	rs1438603716	missense variant	-	NC_000007.14:g.27102130G>T	gnomAD
HOXA2	O43364	p.Ser128Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27102118C>T	NCI-TCGA
HOXA2	O43364	p.Ser128Arg	rs1393516595	missense variant	-	NC_000007.14:g.27102117G>T	gnomAD
HOXA2	O43364	p.Lys130Arg	RCV000324905	missense variant	Microtia, hearing impairment, and cleft palate	NC_000007.14:g.27102112T>C	ClinVar
HOXA2	O43364	p.Lys130Arg	rs886062266	missense variant	-	NC_000007.14:g.27102112T>C	-
HOXA2	O43364	p.Ser132Tyr	rs1193761151	missense variant	-	NC_000007.14:g.27101462G>T	gnomAD
HOXA2	O43364	p.Ser132Thr	rs139504171	missense variant	-	NC_000007.14:g.27101463A>T	ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser132Thr	RCV000288854	missense variant	Microtia, hearing impairment, and cleft palate	NC_000007.14:g.27101463A>T	ClinVar
HOXA2	O43364	p.Ile135Met	rs1480084421	missense variant	-	NC_000007.14:g.27101452G>C	gnomAD
HOXA2	O43364	p.Asp137Asn	COSM3637714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101448C>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Asp137His	rs1280449297	missense variant	-	NC_000007.14:g.27101448C>G	TOPMed,gnomAD
HOXA2	O43364	p.Asp137Glu	rs776760448	missense variant	-	NC_000007.14:g.27101446A>T	ExAC,gnomAD
HOXA2	O43364	p.Gly138Val	COSM6109646	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101444C>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Gly138Ser	rs771410610	missense variant	-	NC_000007.14:g.27101445C>T	ExAC,gnomAD
HOXA2	O43364	p.Ser139Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101440G>C	NCI-TCGA
HOXA2	O43364	p.Ser139Asn	rs1276142131	missense variant	-	NC_000007.14:g.27101441C>T	gnomAD
HOXA2	O43364	p.Ser139Arg	rs747522109	missense variant	-	NC_000007.14:g.27101440G>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gly140Val	rs772381717	missense variant	-	NC_000007.14:g.27101438C>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gly140Cys	rs772364626	missense variant	-	NC_000007.14:g.27101439C>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gly140Ser	rs772364626	missense variant	-	NC_000007.14:g.27101439C>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gly141Arg	rs779619613	missense variant	-	NC_000007.14:g.27101436C>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gly142Glu	rs755775462	missense variant	-	NC_000007.14:g.27101432C>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gly142Val	rs755775462	missense variant	-	NC_000007.14:g.27101432C>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser143Pro	rs1432866173	missense variant	-	NC_000007.14:g.27101430A>G	gnomAD
HOXA2	O43364	p.Arg144Gln	rs749965554	missense variant	-	NC_000007.14:g.27101426C>T	ExAC,gnomAD
HOXA2	O43364	p.Arg145Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101424G>C	NCI-TCGA
HOXA2	O43364	p.Arg145His	rs1171980594	missense variant	-	NC_000007.14:g.27101423C>T	gnomAD
HOXA2	O43364	p.Arg147Lys	rs780752179	missense variant	-	NC_000007.14:g.27101417C>T	ExAC,gnomAD
HOXA2	O43364	p.Thr148Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101414G>T	NCI-TCGA
HOXA2	O43364	p.Tyr150Ser	rs757201406	missense variant	-	NC_000007.14:g.27101408T>G	ExAC,gnomAD
HOXA2	O43364	p.Glu161Ter	COSM1088844	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27101376C>A	NCI-TCGA Cosmic
HOXA2	O43364	p.His163GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27101364_27101368TGAAA>-	NCI-TCGA
HOXA2	O43364	p.Lys166Asn	rs762796761	missense variant	-	NC_000007.14:g.27101359C>G	ExAC,gnomAD
HOXA2	O43364	p.Arg172Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101342C>T	NCI-TCGA
HOXA2	O43364	p.Val174Ala	rs776638973	missense variant	-	NC_000007.14:g.27101336A>G	ExAC,gnomAD
HOXA2	O43364	p.Val174Met	rs1259354373	missense variant	-	NC_000007.14:g.27101337C>T	TOPMed,gnomAD
HOXA2	O43364	p.Ala178Val	rs887991299	missense variant	-	NC_000007.14:g.27101324G>A	gnomAD
HOXA2	O43364	p.Ala178Glu	rs887991299	missense variant	-	NC_000007.14:g.27101324G>T	gnomAD
HOXA2	O43364	p.Leu180Met	COSM3880387	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101319G>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Asp181His	rs1354949263	missense variant	-	NC_000007.14:g.27101316C>G	gnomAD
HOXA2	O43364	p.Glu184Lys	rs1379705685	missense variant	-	NC_000007.14:g.27101307C>T	TOPMed
HOXA2	O43364	p.Arg185Lys	rs748564970	missense variant	-	NC_000007.14:g.27101303C>T	ExAC,gnomAD
HOXA2	O43364	p.Arg185Thr	rs748564970	missense variant	-	NC_000007.14:g.27101303C>G	ExAC,gnomAD
HOXA2	O43364	p.Gln186Lys	rs119489104	missense variant	-	NC_000007.14:g.27101301G>T	-
HOXA2	O43364	p.Gln186Lys	RCV000005738	missense variant	Microtia, hearing impairment, and cleft palate	NC_000007.14:g.27101301G>T	ClinVar
HOXA2	O43364	p.Val187SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27101299_27101300insC	NCI-TCGA
HOXA2	O43364	p.Arg195Ser	COSM6109647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101272C>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Arg195Lys	rs1386978097	missense variant	-	NC_000007.14:g.27101273C>T	gnomAD
HOXA2	O43364	p.His198Gln	rs558922282	missense variant	-	NC_000007.14:g.27101263G>C	1000Genomes,ExAC,gnomAD
HOXA2	O43364	p.Arg200Thr	rs780582283	missense variant	-	NC_000007.14:g.27101258C>G	ExAC,gnomAD
HOXA2	O43364	p.Gln201Arg	rs756721464	missense variant	-	NC_000007.14:g.27101255T>C	ExAC,gnomAD
HOXA2	O43364	p.Thr202Ser	rs1474003389	missense variant	-	NC_000007.14:g.27101253T>A	gnomAD
HOXA2	O43364	p.Gln203His	rs61740490	missense variant	-	NC_000007.14:g.27101248C>A	gnomAD
HOXA2	O43364	p.Gln203Leu	rs758386563	missense variant	-	NC_000007.14:g.27101249T>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gln203Arg	rs758386563	missense variant	-	NC_000007.14:g.27101249T>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Cys204Arg	rs752578788	missense variant	-	NC_000007.14:g.27101247A>G	ExAC,gnomAD
HOXA2	O43364	p.Lys205Gln	rs1370379867	missense variant	-	NC_000007.14:g.27101244T>G	TOPMed
HOXA2	O43364	p.Gln208Arg	rs765075132	missense variant	-	NC_000007.14:g.27101234T>C	ExAC,gnomAD
HOXA2	O43364	p.Ser210Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101228C>A	NCI-TCGA
HOXA2	O43364	p.Ser210Arg	rs377466867	missense variant	-	NC_000007.14:g.27101227G>C	ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Glu211Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101226C>T	NCI-TCGA
HOXA2	O43364	p.Gly212Arg	rs1051989126	missense variant	-	NC_000007.14:g.27101223C>T	TOPMed,gnomAD
HOXA2	O43364	p.Gly212Trp	rs1051989126	missense variant	-	NC_000007.14:g.27101223C>A	TOPMed,gnomAD
HOXA2	O43364	p.Gly212Arg	rs1051989126	missense variant	-	NC_000007.14:g.27101223C>G	TOPMed,gnomAD
HOXA2	O43364	p.Lys215Glu	rs1324759364	missense variant	-	NC_000007.14:g.27101214T>C	TOPMed,gnomAD
HOXA2	O43364	p.Leu217Phe	rs1478280686	missense variant	-	NC_000007.14:g.27101208G>A	TOPMed,gnomAD
HOXA2	O43364	p.Asp219Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101201T>A	NCI-TCGA
HOXA2	O43364	p.Asp219Tyr	rs146316132	missense variant	-	NC_000007.14:g.27101202C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser220Cys	rs772611071	missense variant	-	NC_000007.14:g.27101198G>C	ExAC,TOPMed
HOXA2	O43364	p.Glu221Lys	rs968963087	missense variant	-	NC_000007.14:g.27101196C>T	TOPMed,gnomAD
HOXA2	O43364	p.Val223Ile	rs1434117320	missense variant	-	NC_000007.14:g.27101190C>T	TOPMed
HOXA2	O43364	p.Glu224Asp	rs1181457483	missense variant	-	NC_000007.14:g.27101185C>G	TOPMed
HOXA2	O43364	p.Glu224Ter	rs1554334301	stop gained	-	NC_000007.14:g.27101187C>A	-
HOXA2	O43364	p.Glu224Ter	RCV000625727	nonsense	MICROTIA WITHOUT HEARING IMPAIRMENT	NC_000007.14:g.27101187C>A	ClinVar
HOXA2	O43364	p.Glu225Lys	rs1196981754	missense variant	-	NC_000007.14:g.27101184C>T	gnomAD
HOXA2	O43364	p.Glu225Asp	rs373239286	missense variant	-	NC_000007.14:g.27101182C>G	ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Asp226Asn	rs1412543101	missense variant	-	NC_000007.14:g.27101181C>T	gnomAD
HOXA2	O43364	p.Asp226Glu	rs201289702	missense variant	-	NC_000007.14:g.27101179G>C	ESP,TOPMed,gnomAD
HOXA2	O43364	p.Glu227Lys	rs769008688	missense variant	-	NC_000007.14:g.27101178C>T	ExAC,gnomAD
HOXA2	O43364	p.Glu229Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101170C>G	NCI-TCGA
HOXA2	O43364	p.Glu229Lys	rs745512420	missense variant	-	NC_000007.14:g.27101172C>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Glu229Ala	rs1370827430	missense variant	-	NC_000007.14:g.27101171T>G	gnomAD
HOXA2	O43364	p.Lys230Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101168T>C	NCI-TCGA
HOXA2	O43364	p.Lys230Asn	rs116885108	missense variant	-	NC_000007.14:g.27101167C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Thr231Met	rs991740115	missense variant	-	NC_000007.14:g.27101165G>A	TOPMed
HOXA2	O43364	p.Leu232Val	rs959149385	missense variant	-	NC_000007.14:g.27101163G>C	TOPMed
HOXA2	O43364	p.Leu232Phe	rs959149385	missense variant	-	NC_000007.14:g.27101163G>A	TOPMed
HOXA2	O43364	p.Leu232Arg	rs777386300	missense variant	-	NC_000007.14:g.27101162A>C	ExAC,gnomAD
HOXA2	O43364	p.Glu234Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101155C>G	NCI-TCGA
HOXA2	O43364	p.Gln235Ter	rs398122360	stop gained	-	NC_000007.14:g.27101154G>A	-
HOXA2	O43364	p.Gln235Ter	RCV000074433	nonsense	Microtia with or without hearing impairment	NC_000007.14:g.27101154G>A	ClinVar
HOXA2	O43364	p.Ala236Thr	rs372854321	missense variant	-	NC_000007.14:g.27101151C>T	ESP,ExAC,gnomAD
HOXA2	O43364	p.Ser238Gly	rs1337585708	missense variant	-	NC_000007.14:g.27101145T>C	TOPMed,gnomAD
HOXA2	O43364	p.Val239Ile	rs754731827	missense variant	-	NC_000007.14:g.27101142C>T	ExAC,gnomAD
HOXA2	O43364	p.Gly241Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27101135C>A	NCI-TCGA
HOXA2	O43364	p.Gly241Glu	rs1230123826	missense variant	-	NC_000007.14:g.27101135C>T	TOPMed
HOXA2	O43364	p.Ala242Thr	COSM1698451	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101133C>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Glu245Ter	COSM1088843	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27101124C>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Arg246Lys	rs1487107278	missense variant	-	NC_000007.14:g.27101120C>T	TOPMed,gnomAD
HOXA2	O43364	p.Arg246Gly	rs1327684997	missense variant	-	NC_000007.14:g.27101121T>C	gnomAD
HOXA2	O43364	p.Arg246Trp	rs1327684997	missense variant	-	NC_000007.14:g.27101121T>A	gnomAD
HOXA2	O43364	p.Gly248Ser	rs951464048	missense variant	-	NC_000007.14:g.27101115C>T	TOPMed
HOXA2	O43364	p.Thr250Ile	rs766677700	missense variant	-	NC_000007.14:g.27101108G>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gln252Arg	rs756301122	missense variant	-	NC_000007.14:g.27101102T>C	ExAC,gnomAD
HOXA2	O43364	p.Gln253Ter	rs1488570202	stop gained	-	NC_000007.14:g.27101100G>A	TOPMed
HOXA2	O43364	p.Asn254Lys	rs767574059	missense variant	-	NC_000007.14:g.27101095A>C	ExAC,gnomAD
HOXA2	O43364	p.Asn254Asp	rs750572076	missense variant	-	NC_000007.14:g.27101097T>C	ExAC,gnomAD
HOXA2	O43364	p.Ala255Val	rs995483551	missense variant	-	NC_000007.14:g.27101093G>A	TOPMed
HOXA2	O43364	p.Leu256Phe	rs1167364164	missense variant	-	NC_000007.14:g.27101091G>A	gnomAD
HOXA2	O43364	p.Ser257Phe	rs774856311	missense variant	-	NC_000007.14:g.27101087G>A	ExAC,gnomAD
HOXA2	O43364	p.Gln258AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27101085_27101086GA>-	NCI-TCGA
HOXA2	O43364	p.Gln258Glu	rs1397361565	missense variant	-	NC_000007.14:g.27101085G>C	gnomAD
HOXA2	O43364	p.Gln260Glu	rs764398309	missense variant	-	NC_000007.14:g.27101079G>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ala261Asp	rs1183514519	missense variant	-	NC_000007.14:g.27101075G>T	TOPMed
HOXA2	O43364	p.Pro262Ser	rs1477941332	missense variant	-	NC_000007.14:g.27101073G>A	gnomAD
HOXA2	O43364	p.Pro262His	rs1233794937	missense variant	-	NC_000007.14:g.27101072G>T	TOPMed,gnomAD
HOXA2	O43364	p.Pro262Leu	rs1233794937	missense variant	-	NC_000007.14:g.27101072G>A	TOPMed,gnomAD
HOXA2	O43364	p.Asn263Ser	rs775695374	missense variant	-	NC_000007.14:g.27101069T>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Asn263Asp	rs763328645	missense variant	-	NC_000007.14:g.27101070T>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gly264Ter	COSM4799422	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27101067C>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Gly264Ala	rs746654616	missense variant	-	NC_000007.14:g.27101066C>G	ExAC,gnomAD
HOXA2	O43364	p.Gly264Arg	rs770656809	missense variant	-	NC_000007.14:g.27101067C>T	ExAC,gnomAD
HOXA2	O43364	p.Asn266Ser	rs1217392218	missense variant	-	NC_000007.14:g.27101060T>C	TOPMed,gnomAD
HOXA2	O43364	p.Asn266Thr	rs1217392218	missense variant	-	NC_000007.14:g.27101060T>G	TOPMed,gnomAD
HOXA2	O43364	p.Asn266His	rs1007473608	missense variant	-	NC_000007.14:g.27101061T>G	TOPMed,gnomAD
HOXA2	O43364	p.Gly267Ser	rs369339593	missense variant	-	NC_000007.14:g.27101058C>T	ESP,ExAC,gnomAD
HOXA2	O43364	p.Asp268His	rs777922171	missense variant	-	NC_000007.14:g.27101055C>G	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Asp268Asn	rs777922171	missense variant	-	NC_000007.14:g.27101055C>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser269Phe	rs150696747	missense variant	-	NC_000007.14:g.27101051G>A	ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gln270His	rs1172371479	missense variant	-	NC_000007.14:g.27101047T>G	gnomAD
HOXA2	O43364	p.Gln270Arg	rs750588587	missense variant	-	NC_000007.14:g.27101048T>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Phe272Val	rs138479880	missense variant	-	NC_000007.14:g.27101043A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Val274Leu	rs1272110796	missense variant	-	NC_000007.14:g.27101037C>G	TOPMed
HOXA2	O43364	p.Ser275Leu	rs752029685	missense variant	-	NC_000007.14:g.27101033G>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser275Trp	rs752029685	missense variant	-	NC_000007.14:g.27101033G>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Leu277Ser	rs1401386559	missense variant	-	NC_000007.14:g.27101027A>G	gnomAD
HOXA2	O43364	p.Thr278Ile	COSM382455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27101024G>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Ser279Arg	rs574589154	missense variant	-	NC_000007.14:g.27101020G>T	1000Genomes,ExAC,gnomAD
HOXA2	O43364	p.Lys282Thr	rs775989325	missense variant	-	NC_000007.14:g.27101012T>G	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Leu284Met	rs1278253439	missense variant	-	NC_000007.14:g.27101007G>T	gnomAD
HOXA2	O43364	p.Gln288Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.27100995G>A	NCI-TCGA
HOXA2	O43364	p.Gln288Glu	rs548042970	missense variant	-	NC_000007.14:g.27100995G>C	TOPMed,gnomAD
HOXA2	O43364	p.His289Asp	rs760415353	missense variant	-	NC_000007.14:g.27100992G>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.His289Gln	rs772929568	missense variant	-	NC_000007.14:g.27100990G>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.His289Tyr	rs760415353	missense variant	-	NC_000007.14:g.27100992G>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Pro292Thr	COSM6109649	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100983G>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Thr293Pro	rs754800647	missense variant	-	NC_000007.14:g.27100980T>G	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Pro295Ser	COSM3637711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100974G>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Pro295Ala	rs773707108	missense variant	-	NC_000007.14:g.27100974G>C	ExAC,gnomAD
HOXA2	O43364	p.Ser299Ter	rs779915182	stop gained	-	NC_000007.14:g.27100961G>T	ExAC,gnomAD
HOXA2	O43364	p.Ser299Thr	rs749172390	missense variant	-	NC_000007.14:g.27100962A>T	ExAC,gnomAD
HOXA2	O43364	p.Thr300Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100959T>G	NCI-TCGA
HOXA2	O43364	p.Thr300Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100958G>T	NCI-TCGA
HOXA2	O43364	p.Met301Val	rs769513127	missense variant	-	NC_000007.14:g.27100956T>C	ExAC,gnomAD
HOXA2	O43364	p.Gly302Ala	rs1346244886	missense variant	-	NC_000007.14:g.27100952C>G	TOPMed,gnomAD
HOXA2	O43364	p.Gly302Asp	rs1346244886	missense variant	-	NC_000007.14:g.27100952C>T	TOPMed,gnomAD
HOXA2	O43364	p.Gln303His	rs746122207	missense variant	-	NC_000007.14:g.27100948C>G	ExAC,gnomAD
HOXA2	O43364	p.Asn304Asp	rs781343234	missense variant	-	NC_000007.14:g.27100947T>C	ExAC,gnomAD
HOXA2	O43364	p.Cys305Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100944A>T	NCI-TCGA
HOXA2	O43364	p.Gly308Ala	rs1165984540	missense variant	-	NC_000007.14:g.27100934C>G	gnomAD
HOXA2	O43364	p.Gly308Asp	rs1165984540	missense variant	-	NC_000007.14:g.27100934C>T	gnomAD
HOXA2	O43364	p.Asp312Asn	COSM485241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100923C>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Pro314His	COSM1088842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100916G>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Pro314Leu	rs759000598	missense variant	-	NC_000007.14:g.27100916G>A	ExAC,gnomAD
HOXA2	O43364	p.Ala316Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100910G>C	NCI-TCGA
HOXA2	O43364	p.Ala316Val	rs753086181	missense variant	-	NC_000007.14:g.27100910G>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Leu317Phe	rs1227116921	missense variant	-	NC_000007.14:g.27100908G>A	TOPMed
HOXA2	O43364	p.Glu318Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100905C>T	NCI-TCGA
HOXA2	O43364	p.Glu318Gln	rs765698807	missense variant	-	NC_000007.14:g.27100905C>G	ExAC,gnomAD
HOXA2	O43364	p.Pro320Leu	rs1201029200	missense variant	-	NC_000007.14:g.27100898G>A	gnomAD
HOXA2	O43364	p.Pro320Thr	rs534893580	missense variant	-	NC_000007.14:g.27100899G>T	1000Genomes,ExAC,gnomAD
HOXA2	O43364	p.Ser321Cys	COSM461611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100895G>C	NCI-TCGA Cosmic
HOXA2	O43364	p.Ser321Pro	rs761372083	missense variant	-	NC_000007.14:g.27100896A>G	ExAC
HOXA2	O43364	p.Ser321Phe	rs1309966489	missense variant	-	NC_000007.14:g.27100895G>A	gnomAD
HOXA2	O43364	p.Leu322Phe	rs1394875824	missense variant	-	NC_000007.14:g.27100891C>A	gnomAD
HOXA2	O43364	p.Gln323Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100889T>G	NCI-TCGA
HOXA2	O43364	p.Gln323Ter	rs138940688	stop gained	-	NC_000007.14:g.27100890G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Gln323Lys	rs138940688	missense variant	-	NC_000007.14:g.27100890G>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Asp324Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100886T>C	NCI-TCGA
HOXA2	O43364	p.Asp324Val	rs1433498931	missense variant	-	NC_000007.14:g.27100886T>A	gnomAD
HOXA2	O43364	p.Asp324Asn	rs767995264	missense variant	-	NC_000007.14:g.27100887C>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Val327Ile	rs143043350	missense variant	-	NC_000007.14:g.27100878C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Val327Phe	rs143043350	missense variant	-	NC_000007.14:g.27100878C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Phe328SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27100874A>-	NCI-TCGA
HOXA2	O43364	p.Phe328Ser	rs1238618472	missense variant	-	NC_000007.14:g.27100874A>G	TOPMed
HOXA2	O43364	p.Thr330ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27100867_27100868TG>-	NCI-TCGA
HOXA2	O43364	p.Thr330Ile	rs780934791	missense variant	-	NC_000007.14:g.27100868G>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Thr330Ala	rs745712033	missense variant	-	NC_000007.14:g.27100869T>C	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser332Tyr	rs539038264	missense variant	-	NC_000007.14:g.27100862G>T	ExAC,gnomAD
HOXA2	O43364	p.Ser332Cys	rs539038264	missense variant	-	NC_000007.14:g.27100862G>C	ExAC,gnomAD
HOXA2	O43364	p.Ser332Phe	rs539038264	missense variant	-	NC_000007.14:g.27100862G>A	ExAC,gnomAD
HOXA2	O43364	p.Cys333Tyr	COSM1312996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100859C>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Cys333Gly	rs1249997918	missense variant	-	NC_000007.14:g.27100860A>C	TOPMed
HOXA2	O43364	p.Leu334Val	rs777919936	missense variant	-	NC_000007.14:g.27100857G>C	ExAC,gnomAD
HOXA2	O43364	p.Gln335Ter	rs1421717562	stop gained	-	NC_000007.14:g.27100854G>A	gnomAD
HOXA2	O43364	p.Leu336Val	rs149108490	missense variant	-	NC_000007.14:g.27100851G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Leu336Ile	rs149108490	missense variant	-	NC_000007.14:g.27100851G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser337Ter	rs758080122	stop gained	-	NC_000007.14:g.27100847G>T	ExAC,gnomAD
HOXA2	O43364	p.Ser337Leu	rs758080122	missense variant	-	NC_000007.14:g.27100847G>A	ExAC,gnomAD
HOXA2	O43364	p.Ser337Thr	rs755516097	missense variant	-	NC_000007.14:g.27100848A>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Asp338His	rs201504673	missense variant	-	NC_000007.14:g.27100845C>G	1000Genomes,ExAC,gnomAD
HOXA2	O43364	p.Asp338Ala	rs1333454997	missense variant	-	NC_000007.14:g.27100844T>G	gnomAD
HOXA2	O43364	p.Pro342Leu	rs368004094	missense variant	-	NC_000007.14:g.27100832G>A	ESP,ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser343Asn	COSM1088841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100829C>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Leu344Ser	rs1243596184	missense variant	-	NC_000007.14:g.27100826A>G	TOPMed,gnomAD
HOXA2	O43364	p.Pro345Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100823G>T	NCI-TCGA
HOXA2	O43364	p.Leu348Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100815G>C	NCI-TCGA
HOXA2	O43364	p.Asp349Asn	COSM3637709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100812C>T	NCI-TCGA Cosmic
HOXA2	O43364	p.Asp349Tyr	rs1317894094	missense variant	-	NC_000007.14:g.27100812C>A	TOPMed
HOXA2	O43364	p.Ser350Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100807A>C	NCI-TCGA
HOXA2	O43364	p.Ser350Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100808C>T	NCI-TCGA
HOXA2	O43364	p.Pro351Leu	rs1365032570	missense variant	-	NC_000007.14:g.27100805G>A	gnomAD
HOXA2	O43364	p.Pro351Thr	rs1226879236	missense variant	-	NC_000007.14:g.27100806G>T	gnomAD
HOXA2	O43364	p.Pro351His	rs1365032570	missense variant	-	NC_000007.14:g.27100805G>T	gnomAD
HOXA2	O43364	p.Val352Ile	rs762322767	missense variant	-	NC_000007.14:g.27100803C>T	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Asp353Tyr	COSM1088840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100800C>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Asp353Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100800C>T	NCI-TCGA
HOXA2	O43364	p.Ile354Thr	rs1273927509	missense variant	-	NC_000007.14:g.27100796A>G	TOPMed
HOXA2	O43364	p.Ala356Thr	rs186108631	missense variant	-	NC_000007.14:g.27100791C>T	1000Genomes,ESP,ExAC,gnomAD
HOXA2	O43364	p.Ala356Val	rs1365915815	missense variant	-	NC_000007.14:g.27100790G>A	TOPMed
HOXA2	O43364	p.Asp357Val	rs776467342	missense variant	-	NC_000007.14:g.27100787T>A	ExAC,TOPMed,gnomAD
HOXA2	O43364	p.Ser358Gly	COSM74938	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27100785T>C	NCI-TCGA Cosmic
HOXA2	O43364	p.Ser358Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100784C>A	NCI-TCGA
HOXA2	O43364	p.Asp360Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100779C>T	NCI-TCGA
HOXA2	O43364	p.Asp360Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100779C>A	NCI-TCGA
HOXA2	O43364	p.Phe361Tyr	rs770572625	missense variant	-	NC_000007.14:g.27100775A>T	ExAC,gnomAD
HOXA2	O43364	p.Phe362LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27100771A>-	NCI-TCGA
HOXA2	O43364	p.Phe362Val	rs1447596337	missense variant	-	NC_000007.14:g.27100773A>C	gnomAD
HOXA2	O43364	p.Phe362Leu	rs1447596337	missense variant	-	NC_000007.14:g.27100773A>G	gnomAD
HOXA2	O43364	p.Thr363TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27100770_27100771insA	NCI-TCGA
HOXA2	O43364	p.Thr363Ala	rs1279793468	missense variant	-	NC_000007.14:g.27100770T>C	TOPMed
HOXA2	O43364	p.Asp364Asn	rs1194180092	missense variant	-	NC_000007.14:g.27100767C>T	gnomAD
HOXA2	O43364	p.Thr365Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27100763G>A	NCI-TCGA
HOXA2	O43364	p.Thr367Ser	rs747258766	missense variant	-	NC_000007.14:g.27100758T>A	ExAC,gnomAD
HOXA2	O43364	p.Thr367Asn	rs1264975448	missense variant	-	NC_000007.14:g.27100757G>T	gnomAD
HOXA2	O43364	p.Ile369Val	rs911168146	missense variant	-	NC_000007.14:g.27100752T>C	TOPMed
HOXA2	O43364	p.Asp370Asn	rs772212707	missense variant	-	NC_000007.14:g.27100749C>T	ExAC,gnomAD
HOXA2	O43364	p.Leu371Phe	rs779101719	missense variant	-	NC_000007.14:g.27100744C>G	ExAC,gnomAD
HOXA2	O43364	p.Gln372Ter	COSM3637708	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27100743G>A	NCI-TCGA Cosmic
HOXA2	O43364	p.Gln372Arg	rs1304883436	missense variant	-	NC_000007.14:g.27100742T>C	gnomAD
HOXA2	O43364	p.Leu374Pro	rs1237118318	missense variant	-	NC_000007.14:g.27100736A>G	gnomAD
HOXA3	O43365	p.Gln2His	rs977011633	missense variant	-	NC_000007.14:g.27110635T>G	TOPMed
HOXA3	O43365	p.Ala4Val	rs1326302466	missense variant	-	NC_000007.14:g.27110630G>A	gnomAD
HOXA3	O43365	p.Thr5Ile	rs767689192	missense variant	-	NC_000007.14:g.27110627G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr7Cys	rs757907805	missense variant	-	NC_000007.14:g.27110621T>C	ExAC,gnomAD
HOXA3	O43365	p.Ser10Leu	rs1300171872	missense variant	-	NC_000007.14:g.27110612G>A	gnomAD
HOXA3	O43365	p.Ala11Ser	rs1399554991	missense variant	-	NC_000007.14:g.27110610C>A	gnomAD
HOXA3	O43365	p.Ala11Val	rs1337485368	missense variant	-	NC_000007.14:g.27110609G>A	TOPMed,gnomAD
HOXA3	O43365	p.Ala11Glu	rs1337485368	missense variant	-	NC_000007.14:g.27110609G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ile12Phe	rs1020789194	missense variant	-	NC_000007.14:g.27110607T>A	TOPMed
HOXA3	O43365	p.Gly14Ser	rs765445228	missense variant	-	NC_000007.14:g.27110601C>T	gnomAD
HOXA3	O43365	p.Gly15Ser	rs752084362	missense variant	-	NC_000007.14:g.27110598C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro17Thr	rs763332746	missense variant	-	NC_000007.14:g.27110592G>T	ExAC,gnomAD
HOXA3	O43365	p.Pro17Ala	rs763332746	missense variant	-	NC_000007.14:g.27110592G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala20Val	rs1169731987	missense variant	-	NC_000007.14:g.27110582G>A	TOPMed,gnomAD
HOXA3	O43365	p.Ala20Pro	rs765991905	missense variant	-	NC_000007.14:g.27110583C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala21Asp	rs1236976167	missense variant	-	NC_000007.14:g.27110579G>T	gnomAD
HOXA3	O43365	p.Asn22Ser	rs1365636540	missense variant	-	NC_000007.14:g.27110576T>C	TOPMed
HOXA3	O43365	p.Gly23Arg	COSM3880397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27110574C>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Gly23Arg	rs760117879	missense variant	-	NC_000007.14:g.27110574C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Phe24Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110569G>T	NCI-TCGA
HOXA3	O43365	p.Ala25Ser	rs1424321019	missense variant	-	NC_000007.14:g.27110568C>A	gnomAD
HOXA3	O43365	p.Tyr26Cys	COSM4919488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27110564T>C	NCI-TCGA Cosmic
HOXA3	O43365	p.Asn27Lys	rs771538813	missense variant	-	NC_000007.14:g.27110560A>C	ExAC,gnomAD
HOXA3	O43365	p.Asn29Ser	rs748131705	missense variant	-	NC_000007.14:g.27110555T>C	ExAC,gnomAD
HOXA3	O43365	p.Pro32Thr	rs774223850	missense variant	-	NC_000007.14:g.27110547G>T	ExAC,gnomAD
HOXA3	O43365	p.Pro32Leu	rs1376465603	missense variant	-	NC_000007.14:g.27110546G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro32Arg	rs1376465603	missense variant	-	NC_000007.14:g.27110546G>C	TOPMed,gnomAD
HOXA3	O43365	p.Tyr33Asn	rs1454687111	missense variant	-	NC_000007.14:g.27110544A>T	gnomAD
HOXA3	O43365	p.Pro34Gln	rs1448611789	missense variant	-	NC_000007.14:g.27110540G>T	TOPMed
HOXA3	O43365	p.Ala35Val	rs749040963	missense variant	-	NC_000007.14:g.27110537G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala37Val	rs746085776	missense variant	-	NC_000007.14:g.27110531G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala38Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110528G>C	NCI-TCGA
HOXA3	O43365	p.Ala38Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110529C>T	NCI-TCGA
HOXA3	O43365	p.Ala38Ser	rs1379341623	missense variant	-	NC_000007.14:g.27110529C>A	gnomAD
HOXA3	O43365	p.Ala41Gly	rs757393983	missense variant	-	NC_000007.14:g.27110519G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala41Thr	rs1183641928	missense variant	-	NC_000007.14:g.27110520C>T	gnomAD
HOXA3	O43365	p.Asp42Glu	rs758695156	missense variant	-	NC_000007.14:g.27110515G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asp42Tyr	rs764656757	missense variant	-	NC_000007.14:g.27110517C>A	ExAC,gnomAD
HOXA3	O43365	p.Asp42Asn	rs764656757	missense variant	-	NC_000007.14:g.27110517C>T	UniProt,dbSNP
HOXA3	O43365	p.Asp42Asn	VAR_036264	missense variant	-	NC_000007.14:g.27110517C>T	UniProt
HOXA3	O43365	p.Asp42Asn	rs764656757	missense variant	-	NC_000007.14:g.27110517C>T	ExAC,gnomAD
HOXA3	O43365	p.Gly43Asp	COSM1568451	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27110513C>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Gly43Ser	rs146381041	missense variant	-	NC_000007.14:g.27110514C>T	ESP,ExAC,gnomAD
HOXA3	O43365	p.Glu44Lys	rs905445520	missense variant	-	NC_000007.14:g.27110511C>T	TOPMed,gnomAD
HOXA3	O43365	p.Glu44Gln	rs905445520	missense variant	-	NC_000007.14:g.27110511C>G	TOPMed,gnomAD
HOXA3	O43365	p.His46Gln	rs373369365	missense variant	-	NC_000007.14:g.27110503G>T	ESP,ExAC,gnomAD
HOXA3	O43365	p.His46Arg	rs1353222884	missense variant	-	NC_000007.14:g.27110504T>C	gnomAD
HOXA3	O43365	p.Arg47Gln	rs760414819	missense variant	-	NC_000007.14:g.27110501C>T	ExAC,gnomAD
HOXA3	O43365	p.Arg47Ter	rs1248247321	stop gained	-	NC_000007.14:g.27110502G>A	gnomAD
HOXA3	O43365	p.Pro48Thr	rs1157184308	missense variant	-	NC_000007.14:g.27110499G>T	TOPMed
HOXA3	O43365	p.Pro48Leu	rs750054841	missense variant	-	NC_000007.14:g.27110498G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala49Val	rs761272954	missense variant	-	NC_000007.14:g.27110495G>A	ExAC,TOPMed
HOXA3	O43365	p.Ala49Thr	rs1362603166	missense variant	-	NC_000007.14:g.27110496C>T	gnomAD
HOXA3	O43365	p.Leu52Phe	rs1290374206	missense variant	-	NC_000007.14:g.27110487G>A	gnomAD
HOXA3	O43365	p.Pro55Leu	rs774271981	missense variant	-	NC_000007.14:g.27110477G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro55Ser	rs1010368098	missense variant	-	NC_000007.14:g.27110478G>A	gnomAD
HOXA3	O43365	p.Ser57Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110470G>T	NCI-TCGA
HOXA3	O43365	p.Ser57Thr	rs762783980	missense variant	-	NC_000007.14:g.27110471C>G	ExAC,gnomAD
HOXA3	O43365	p.Ala58Thr	rs78276647	missense variant	-	NC_000007.14:g.27110469C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala58Val	rs769448301	missense variant	-	NC_000007.14:g.27110468G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala58Ser	rs78276647	missense variant	-	NC_000007.14:g.27110469C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly59Arg	rs746145258	missense variant	-	NC_000007.14:g.27110466C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly59Arg	rs746145258	missense variant	-	NC_000007.14:g.27110466C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly60Ser	rs781519766	missense variant	-	NC_000007.14:g.27110463C>T	ExAC,gnomAD
HOXA3	O43365	p.Gly60Cys	rs781519766	missense variant	-	NC_000007.14:g.27110463C>A	ExAC,gnomAD
HOXA3	O43365	p.Gly60Asp	rs1357576963	missense variant	-	NC_000007.14:g.27110462C>T	gnomAD
HOXA3	O43365	p.His61Tyr	rs1264893550	missense variant	-	NC_000007.14:g.27110460G>A	gnomAD
HOXA3	O43365	p.Pro62Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110456G>A	NCI-TCGA
HOXA3	O43365	p.Lys63Asn	rs1215827508	missense variant	-	NC_000007.14:g.27110452C>G	TOPMed,gnomAD
HOXA3	O43365	p.Ala64Thr	rs1307976324	missense variant	-	NC_000007.14:g.27110451C>T	gnomAD
HOXA3	O43365	p.Glu66Lys	rs1297705629	missense variant	-	NC_000007.14:g.27110445C>T	gnomAD
HOXA3	O43365	p.Leu67Pro	rs747018825	missense variant	-	NC_000007.14:g.27110441A>G	ExAC,gnomAD
HOXA3	O43365	p.Ser68Asn	rs1406341406	missense variant	-	NC_000007.14:g.27110438C>T	gnomAD
HOXA3	O43365	p.Ser68Cys	rs1303548549	missense variant	-	NC_000007.14:g.27110439T>A	gnomAD
HOXA3	O43365	p.Cys71Trp	rs753110975	missense variant	-	NC_000007.14:g.27110428G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Cys71Ser	rs759004454	missense variant	-	NC_000007.14:g.27110429C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg73Cys	rs779382325	missense variant	-	NC_000007.14:g.27110424G>A	ExAC,gnomAD
HOXA3	O43365	p.Arg73His	rs1202077053	missense variant	-	NC_000007.14:g.27110423C>T	gnomAD
HOXA3	O43365	p.Leu75Val	rs755285275	missense variant	-	NC_000007.14:g.27110418G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala77Val	rs750106752	missense variant	-	NC_000007.14:g.27110411G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala77Thr	rs1196439232	missense variant	-	NC_000007.14:g.27110412C>T	gnomAD
HOXA3	O43365	p.Pro78Thr	rs900192762	missense variant	-	NC_000007.14:g.27110409G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro79Ala	rs761322128	missense variant	-	NC_000007.14:g.27110406G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro79Ser	rs761322128	missense variant	-	NC_000007.14:g.27110406G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro79Arg	rs1467089174	missense variant	-	NC_000007.14:g.27110405G>C	TOPMed
HOXA3	O43365	p.Ser80Gly	rs1214970882	missense variant	-	NC_000007.14:g.27110403T>C	TOPMed
HOXA3	O43365	p.Pro82Leu	rs1357808537	missense variant	-	NC_000007.14:g.27110396G>A	gnomAD
HOXA3	O43365	p.Pro83Ala	rs763505092	missense variant	-	NC_000007.14:g.27110394G>C	ExAC,gnomAD
HOXA3	O43365	p.Ser84Arg	rs762990429	missense variant	-	NC_000007.14:g.27110389G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Glu87Lys	rs775268517	missense variant	-	NC_000007.14:g.27110382C>T	ExAC,gnomAD
HOXA3	O43365	p.Glu87Gly	rs563924162	missense variant	-	NC_000007.14:g.27110381T>C	1000Genomes,gnomAD
HOXA3	O43365	p.Pro88Arg	rs1038708524	missense variant	-	NC_000007.14:g.27110378G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro88Gln	rs1038708524	missense variant	-	NC_000007.14:g.27110378G>T	TOPMed,gnomAD
HOXA3	O43365	p.Leu90Met	rs769654378	missense variant	-	NC_000007.14:g.27110373G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His91Pro	rs1477274540	missense variant	-	NC_000007.14:g.27110369T>G	gnomAD
HOXA3	O43365	p.His91Gln	rs1377277486	missense variant	-	NC_000007.14:g.27110368G>T	gnomAD
HOXA3	O43365	p.Pro92Leu	rs1439787224	missense variant	-	NC_000007.14:g.27110366G>A	gnomAD
HOXA3	O43365	p.Pro92Ser	rs1182712985	missense variant	-	NC_000007.14:g.27110367G>A	gnomAD
HOXA3	O43365	p.Pro92Thr	rs1182712985	missense variant	-	NC_000007.14:g.27110367G>T	gnomAD
HOXA3	O43365	p.Pro94Leu	rs200842771	missense variant	-	NC_000007.14:g.27110360G>A	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Pro95Ala	rs777001617	missense variant	-	NC_000007.14:g.27110358G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro95Leu	rs1457237532	missense variant	-	NC_000007.14:g.27110357G>A	gnomAD
HOXA3	O43365	p.Gln96Pro	rs1399706028	missense variant	-	NC_000007.14:g.27110354T>G	TOPMed
HOXA3	O43365	p.Ala98Val	rs1331206506	missense variant	-	NC_000007.14:g.27110348G>A	TOPMed
HOXA3	O43365	p.Pro99Ser	rs1274034380	missense variant	-	NC_000007.14:g.27110346G>A	gnomAD
HOXA3	O43365	p.Pro99Leu	rs1337294972	missense variant	-	NC_000007.14:g.27110345G>A	TOPMed
HOXA3	O43365	p.Pro100Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110343G>A	NCI-TCGA
HOXA3	O43365	p.Ala101Thr	rs1283416319	missense variant	-	NC_000007.14:g.27110340C>T	TOPMed
HOXA3	O43365	p.Pro104Gln	rs1273239422	missense variant	-	NC_000007.14:g.27110330G>T	TOPMed
HOXA3	O43365	p.Gln106Arg	rs1316838520	missense variant	-	NC_000007.14:g.27110324T>C	TOPMed
HOXA3	O43365	p.Pro107His	rs1306411661	missense variant	-	NC_000007.14:g.27110321G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ala108Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110318G>T	NCI-TCGA
HOXA3	O43365	p.Ala108Ser	rs1187228858	missense variant	-	NC_000007.14:g.27110319C>A	TOPMed
HOXA3	O43365	p.Pro109Thr	rs1445457290	missense variant	-	NC_000007.14:g.27110316G>T	gnomAD
HOXA3	O43365	p.Pro109Leu	rs747224903	missense variant	-	NC_000007.14:g.27110315G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro111Arg	rs777978952	missense variant	-	NC_000007.14:g.27110309G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro111Leu	rs777978952	missense variant	-	NC_000007.14:g.27110309G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro111Ala	rs1255870498	missense variant	-	NC_000007.14:g.27110310G>C	TOPMed
HOXA3	O43365	p.Ala113Thr	rs1423004393	missense variant	-	NC_000007.14:g.27110304C>T	TOPMed
HOXA3	O43365	p.Pro114Leu	rs976697190	missense variant	-	NC_000007.14:g.27110300G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro114Ser	rs1159528797	missense variant	-	NC_000007.14:g.27110301G>A	gnomAD
HOXA3	O43365	p.Thr115Pro	rs530713477	missense variant	-	NC_000007.14:g.27110298T>G	1000Genomes,gnomAD
HOXA3	O43365	p.Pro116Ala	rs748707785	missense variant	-	NC_000007.14:g.27110295G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala117Val	rs1445374925	missense variant	-	NC_000007.14:g.27110291G>A	gnomAD
HOXA3	O43365	p.Ala118Thr	COSM3923436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27110289C>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Ala118Val	rs1212072086	missense variant	-	NC_000007.14:g.27110288G>A	gnomAD
HOXA3	O43365	p.Ala118Gly	rs1212072086	missense variant	-	NC_000007.14:g.27110288G>C	gnomAD
HOXA3	O43365	p.Pro119Ser	rs1440644090	missense variant	-	NC_000007.14:g.27110286G>A	gnomAD
HOXA3	O43365	p.Pro120ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27110282G>-	NCI-TCGA
HOXA3	O43365	p.Pro120Arg	rs1205537984	missense variant	-	NC_000007.14:g.27110282G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro120Ser	rs1333238267	missense variant	-	NC_000007.14:g.27110283G>A	TOPMed
HOXA3	O43365	p.Pro120Leu	rs1205537984	missense variant	-	NC_000007.14:g.27110282G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro121Ser	rs780382886	missense variant	-	NC_000007.14:g.27110280G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro122Ala	rs751139252	missense variant	-	NC_000007.14:g.27110277G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro122Ser	rs751139252	missense variant	-	NC_000007.14:g.27110277G>A	ExAC,gnomAD
HOXA3	O43365	p.Ser126Phe	rs757799583	missense variant	-	NC_000007.14:g.27110264G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro127Ala	rs1340431719	missense variant	-	NC_000007.14:g.27110262G>C	gnomAD
HOXA3	O43365	p.Pro128Ser	rs141597317	missense variant	-	NC_000007.14:g.27110259G>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro128Leu	rs765017652	missense variant	-	NC_000007.14:g.27110258G>A	ExAC,gnomAD
HOXA3	O43365	p.Gln129Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110256G>C	NCI-TCGA
HOXA3	O43365	p.Gln129Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110256G>T	NCI-TCGA
HOXA3	O43365	p.Gln129Pro	rs759421760	missense variant	-	NC_000007.14:g.27110255T>G	ExAC
HOXA3	O43365	p.Ala131Thr	VAR_036265	Missense	-	-	UniProt
HOXA3	O43365	p.Ser132Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110246C>A	NCI-TCGA
HOXA3	O43365	p.Ser132Gly	rs1020839960	missense variant	-	NC_000007.14:g.27110247T>C	TOPMed
HOXA3	O43365	p.Asn133Lys	rs987965306	missense variant	-	NC_000007.14:g.27110242G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro135GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27110237_27110238insTCCAGAGGGACTCCCAGCAGGTCTCT	NCI-TCGA
HOXA3	O43365	p.Pro135Ser	rs148350002	missense variant	-	NC_000007.14:g.27110238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro135Ala	rs148350002	missense variant	-	NC_000007.14:g.27110238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro135Thr	rs148350002	missense variant	-	NC_000007.14:g.27110238G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro135Leu	rs761025094	missense variant	-	NC_000007.14:g.27110237G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala138Val	rs748105640	missense variant	-	NC_000007.14:g.27110228G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala138Pro	rs772220854	missense variant	-	NC_000007.14:g.27110229C>G	ExAC,gnomAD
HOXA3	O43365	p.Ala140Val	rs769208429	missense variant	-	NC_000007.14:g.27110222G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala140Glu	rs769208429	missense variant	-	NC_000007.14:g.27110222G>T	ExAC,gnomAD
HOXA3	O43365	p.Ser143Arg	rs1235437557	missense variant	-	NC_000007.14:g.27110212G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro144Ser	rs375062129	missense variant	-	NC_000007.14:g.27110211G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro144Arg	rs756450304	missense variant	-	NC_000007.14:g.27110210G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro144His	rs756450304	missense variant	-	NC_000007.14:g.27110210G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro144Leu	rs756450304	missense variant	-	NC_000007.14:g.27110210G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Leu145ProPheSerTerUnkUnk	rs753346052	frameshift	-	NC_000007.14:g.27110207_27110208insG	NCI-TCGA
HOXA3	O43365	p.Leu146Phe	rs1226155884	missense variant	-	NC_000007.14:g.27110205G>A	gnomAD
HOXA3	O43365	p.Leu146Ile	rs1226155884	missense variant	-	NC_000007.14:g.27110205G>T	gnomAD
HOXA3	O43365	p.Ser148Leu	rs757931038	missense variant	-	NC_000007.14:g.27110198G>A	ExAC,gnomAD
HOXA3	O43365	p.Ser148Ala	rs777252489	missense variant	-	NC_000007.14:g.27110199A>C	ExAC,gnomAD
HOXA3	O43365	p.Pro149Ser	rs1338817885	missense variant	-	NC_000007.14:g.27110196G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro149Ala	rs1338817885	missense variant	-	NC_000007.14:g.27110196G>C	TOPMed,gnomAD
HOXA3	O43365	p.Val151Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110190C>T	NCI-TCGA
HOXA3	O43365	p.Val151Gly	rs1297990052	missense variant	-	NC_000007.14:g.27110189A>C	gnomAD
HOXA3	O43365	p.Ala152Asp	rs764830639	missense variant	-	NC_000007.14:g.27110186G>T	ExAC,gnomAD
HOXA3	O43365	p.Gln154Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110180T>G	NCI-TCGA
HOXA3	O43365	p.Gln154Lys	rs753798091	missense variant	-	NC_000007.14:g.27110181G>T	ExAC,gnomAD
HOXA3	O43365	p.Gln154Glu	rs753798091	missense variant	-	NC_000007.14:g.27110181G>C	ExAC,gnomAD
HOXA3	O43365	p.Ile155Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110178T>G	NCI-TCGA
HOXA3	O43365	p.Trp158Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110169A>G	NCI-TCGA
HOXA3	O43365	p.Lys160Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110161T>A	NCI-TCGA
HOXA3	O43365	p.Glu161Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110160C>T	NCI-TCGA
HOXA3	O43365	p.Ser162Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110156G>A	NCI-TCGA
HOXA3	O43365	p.Arg163Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110153C>T	NCI-TCGA
HOXA3	O43365	p.Arg163Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.27110154G>A	NCI-TCGA
HOXA3	O43365	p.Gln164Lys	rs1313262966	missense variant	-	NC_000007.14:g.27110151G>T	TOPMed
HOXA3	O43365	p.Lys167Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110140C>A	NCI-TCGA
HOXA3	O43365	p.Lys167Arg	rs760344417	missense variant	-	NC_000007.14:g.27110141T>C	ExAC
HOXA3	O43365	p.Thr170Ala	rs773484720	missense variant	-	NC_000007.14:g.27110133T>C	ExAC,gnomAD
HOXA3	O43365	p.Ser173Phe	rs767573569	missense variant	-	NC_000007.14:g.27110123G>A	ExAC,gnomAD
HOXA3	O43365	p.Gly176Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27110115C>A	NCI-TCGA
HOXA3	O43365	p.Glu177Lys	rs764182354	missense variant	-	NC_000007.14:g.27108718C>T	ExAC
HOXA3	O43365	p.Ser178Arg	rs762981763	missense variant	-	NC_000007.14:g.27108713G>C	ExAC,gnomAD
HOXA3	O43365	p.Cys179Ter	COSM6177252	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27108710G>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Cys179Gly	rs561303614	missense variant	-	NC_000007.14:g.27108712A>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala180Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108708G>T	NCI-TCGA
HOXA3	O43365	p.Gly181Cys	rs541660334	missense variant	-	NC_000007.14:g.27108706C>A	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Asp182His	rs1314381838	missense variant	-	NC_000007.14:g.27108703C>G	TOPMed,gnomAD
HOXA3	O43365	p.Asp182Tyr	rs1314381838	missense variant	-	NC_000007.14:g.27108703C>A	TOPMed,gnomAD
HOXA3	O43365	p.Lys183Asn	rs201202337	missense variant	-	NC_000007.14:g.27108698C>G	TOPMed,gnomAD
HOXA3	O43365	p.Lys183Arg	rs760079612	missense variant	-	NC_000007.14:g.27108699T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser184Asn	rs776931367	missense variant	-	NC_000007.14:g.27108696C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro185Gln	rs909441206	missense variant	-	NC_000007.14:g.27108693G>T	gnomAD
HOXA3	O43365	p.Pro185Leu	rs909441206	missense variant	-	NC_000007.14:g.27108693G>A	gnomAD
HOXA3	O43365	p.Pro186Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108691G>A	NCI-TCGA
HOXA3	O43365	p.Gly187Glu	rs778666410	missense variant	-	NC_000007.14:g.27108687C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly187Trp	rs747806694	missense variant	-	NC_000007.14:g.27108688C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gln188His	rs1470258466	missense variant	-	NC_000007.14:g.27108683C>G	gnomAD
HOXA3	O43365	p.Ala189Ser	rs374352147	missense variant	-	NC_000007.14:g.27108682C>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala189Pro	rs374352147	missense variant	-	NC_000007.14:g.27108682C>G	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser190Leu	COSM3637724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108678G>A	NCI-TCGA Cosmic
HOXA3	O43365	p.Ser190Trp	rs144351903	missense variant	-	NC_000007.14:g.27108678G>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser191Phe	rs1432196398	missense variant	-	NC_000007.14:g.27108675G>A	gnomAD
HOXA3	O43365	p.Arg193Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108670G>A	NCI-TCGA
HOXA3	O43365	p.Arg193Ser	rs1230280289	missense variant	-	NC_000007.14:g.27108670G>T	TOPMed
HOXA3	O43365	p.Ala194Val	rs149479622	missense variant	-	NC_000007.14:g.27108666G>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg195Cys	COSM3027140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108664G>A	NCI-TCGA Cosmic
HOXA3	O43365	p.Arg195HisPheSerTerUnkUnk	COSM392338	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27108662_27108663GC>-	NCI-TCGA Cosmic
HOXA3	O43365	p.Thr196Met	rs1347019202	missense variant	-	NC_000007.14:g.27108660G>A	TOPMed
HOXA3	O43365	p.Tyr198Cys	COSM4941105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108654T>C	NCI-TCGA Cosmic
HOXA3	O43365	p.Thr199Ala	rs751813350	missense variant	-	NC_000007.14:g.27108652T>C	ExAC,gnomAD
HOXA3	O43365	p.Ala201Val	COSM1088853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108645G>A	NCI-TCGA Cosmic
HOXA3	O43365	p.Ala201Gly	COSM746318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108645G>C	NCI-TCGA Cosmic
HOXA3	O43365	p.Ala201Thr	COSM1088854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108646C>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Gln202Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.27108643G>A	NCI-TCGA
HOXA3	O43365	p.Glu207Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108626C>A	NCI-TCGA
HOXA3	O43365	p.Lys208Glu	rs765359429	missense variant	-	NC_000007.14:g.27108625T>C	ExAC,gnomAD
HOXA3	O43365	p.His211Arg	rs137977036	missense variant	-	NC_000007.14:g.27108615T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His211Leu	rs137977036	missense variant	-	NC_000007.14:g.27108615T>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn213His	rs777176111	missense variant	-	NC_000007.14:g.27108610T>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg214Ser	rs1394900092	missense variant	-	NC_000007.14:g.27108607G>T	TOPMed
HOXA3	O43365	p.Arg218Trp	rs771224832	missense variant	-	NC_000007.14:g.27108595G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro219Gln	rs1381290384	missense variant	-	NC_000007.14:g.27108591G>T	gnomAD
HOXA3	O43365	p.Pro219Leu	rs1381290384	missense variant	-	NC_000007.14:g.27108591G>A	gnomAD
HOXA3	O43365	p.Arg221Gln	rs1300835427	missense variant	-	NC_000007.14:g.27108585C>T	TOPMed,gnomAD
HOXA3	O43365	p.Arg221Leu	rs1300835427	missense variant	-	NC_000007.14:g.27108585C>A	TOPMed,gnomAD
HOXA3	O43365	p.Asn226Ser	rs774155973	missense variant	-	NC_000007.14:g.27108570T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn226Asp	rs146963463	missense variant	-	NC_000007.14:g.27108571T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn229Lys	rs1367593205	missense variant	-	NC_000007.14:g.27108560G>T	TOPMed
HOXA3	O43365	p.Leu230Phe	rs779749400	missense variant	-	NC_000007.14:g.27108559G>A	ExAC,gnomAD
HOXA3	O43365	p.Leu230Val	rs779749400	missense variant	-	NC_000007.14:g.27108559G>C	ExAC,gnomAD
HOXA3	O43365	p.Arg233His	rs1254744638	missense variant	-	NC_000007.14:g.27108549C>T	gnomAD
HOXA3	O43365	p.Gln234His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108545C>A	NCI-TCGA
HOXA3	O43365	p.Gln234His	rs745812862	missense variant	-	NC_000007.14:g.27108545C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Lys236Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108539C>A	NCI-TCGA
HOXA3	O43365	p.Lys236Arg	rs781146610	missense variant	-	NC_000007.14:g.27108540T>C	ExAC,gnomAD
HOXA3	O43365	p.Trp238Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108535A>T	NCI-TCGA
HOXA3	O43365	p.Arg243Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108520G>A	NCI-TCGA
HOXA3	O43365	p.Tyr246Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.27108509G>T	NCI-TCGA
HOXA3	O43365	p.Lys248Asn	rs1214652095	missense variant	-	NC_000007.14:g.27108503C>A	gnomAD
HOXA3	O43365	p.Asp249Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108500A>T	NCI-TCGA
HOXA3	O43365	p.Asp249Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108500A>C	NCI-TCGA
HOXA3	O43365	p.Asp249Asn	COSM3637722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108502C>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Asp249Val	rs1292541310	missense variant	-	NC_000007.14:g.27108501T>A	TOPMed,gnomAD
HOXA3	O43365	p.Asp249Tyr	rs757009297	missense variant	-	NC_000007.14:g.27108502C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Lys251Arg	rs1214401950	missense variant	-	NC_000007.14:g.27108495T>C	TOPMed
HOXA3	O43365	p.Gly252Asp	COSM3880394	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108492C>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Gly254Asp	rs777531613	missense variant	-	NC_000007.14:g.27108486C>T	ExAC,gnomAD
HOXA3	O43365	p.Met255Leu	rs758689645	missense variant	-	NC_000007.14:g.27108484T>G	ExAC,gnomAD
HOXA3	O43365	p.Leu256Pro	rs752889184	missense variant	-	NC_000007.14:g.27108480A>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr257Ala	COSM3923435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108478T>C	NCI-TCGA Cosmic
HOXA3	O43365	p.Thr257Lys	rs1397701408	missense variant	-	NC_000007.14:g.27108477G>T	TOPMed,gnomAD
HOXA3	O43365	p.Thr257Arg	rs1397701408	missense variant	-	NC_000007.14:g.27108477G>C	TOPMed,gnomAD
HOXA3	O43365	p.Ser259Leu	COSM3637721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108471G>A	NCI-TCGA Cosmic
HOXA3	O43365	p.Gly260Glu	rs545349305	missense variant	-	NC_000007.14:g.27108468C>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly260Arg	rs761246075	missense variant	-	NC_000007.14:g.27108469C>G	ExAC,gnomAD
HOXA3	O43365	p.Gly261Val	rs576449568	missense variant	-	NC_000007.14:g.27108465C>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly261Cys	rs1426166813	missense variant	-	NC_000007.14:g.27108466C>A	TOPMed,gnomAD
HOXA3	O43365	p.Gly261Asp	rs576449568	missense variant	-	NC_000007.14:g.27108465C>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gln262Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.27108463G>A	NCI-TCGA
HOXA3	O43365	p.Gln262ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108464_27108465insC	NCI-TCGA
HOXA3	O43365	p.Gln262Glu	COSM6177253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108463G>C	NCI-TCGA Cosmic
HOXA3	O43365	p.Ser263Ala	rs769217500	missense variant	-	NC_000007.14:g.27108460A>C	ExAC,gnomAD
HOXA3	O43365	p.Ser265Thr	rs1269933015	missense variant	-	NC_000007.14:g.27108453C>G	gnomAD
HOXA3	O43365	p.Arg266Cys	COSM3637720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108451G>A	NCI-TCGA Cosmic
HOXA3	O43365	p.Arg266His	rs745318781	missense variant	-	NC_000007.14:g.27108450C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg266Leu	rs745318781	missense variant	-	NC_000007.14:g.27108450C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser267Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108447C>T	NCI-TCGA
HOXA3	O43365	p.Val269Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108442C>T	NCI-TCGA
HOXA3	O43365	p.Val269Leu	rs201998676	missense variant	-	NC_000007.14:g.27108442C>G	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Val269Leu	rs201998676	missense variant	-	NC_000007.14:g.27108442C>A	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Pro270Thr	rs777588656	missense variant	-	NC_000007.14:g.27108439G>T	ExAC,gnomAD
HOXA3	O43365	p.Pro270His	rs141075773	missense variant	-	NC_000007.14:g.27108438G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro270Leu	rs141075773	missense variant	-	NC_000007.14:g.27108438G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro270Ser	rs777588656	missense variant	-	NC_000007.14:g.27108439G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro271Leu	rs779159425	missense variant	-	NC_000007.14:g.27108435G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly272GluPheSerTerUnk	COSM4440121	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27108434G>-	NCI-TCGA Cosmic
HOXA3	O43365	p.Gly272ArgPheSerTerUnkUnk	rs750383849	frameshift	-	NC_000007.14:g.27108433_27108434insG	NCI-TCGA,NCI-TCGA Cosmic
HOXA3	O43365	p.Gly274Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108427C>T	NCI-TCGA
HOXA3	O43365	p.Gly274Cys	rs1323878374	missense variant	-	NC_000007.14:g.27108427C>A	TOPMed,gnomAD
HOXA3	O43365	p.Gly275Asp	rs138670627	missense variant	-	NC_000007.14:g.27108423C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr276Ser	rs1333146981	missense variant	-	NC_000007.14:g.27108420T>G	TOPMed
HOXA3	O43365	p.Met280Leu	COSM746320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108409T>A	NCI-TCGA Cosmic
HOXA3	O43365	p.Met280Lys	rs750944445	missense variant	-	NC_000007.14:g.27108408A>T	ExAC,gnomAD
HOXA3	O43365	p.Met280Val	rs375321122	missense variant	-	NC_000007.14:g.27108409T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His281Pro	rs1435463651	missense variant	-	NC_000007.14:g.27108405T>G	gnomAD
HOXA3	O43365	p.Leu283Pro	rs1477733468	missense variant	-	NC_000007.14:g.27108399A>G	TOPMed,gnomAD
HOXA3	O43365	p.Asn285Ser	rs762227101	missense variant	-	NC_000007.14:g.27108393T>C	ExAC,gnomAD
HOXA3	O43365	p.Val287Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108388C>T	NCI-TCGA
HOXA3	O43365	p.Pro288Ter	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108382_27108386ACGGG>-	NCI-TCGA
HOXA3	O43365	p.Pro288Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108385G>A	NCI-TCGA
HOXA3	O43365	p.Pro288Leu	rs1208826265	missense variant	-	NC_000007.14:g.27108384G>A	TOPMed
HOXA3	O43365	p.Glu290Lys	COSM3778352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108379C>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Glu290Gln	rs1272072937	missense variant	-	NC_000007.14:g.27108379C>G	TOPMed
HOXA3	O43365	p.Glu290Gly	rs1266704911	missense variant	-	NC_000007.14:g.27108378T>C	gnomAD
HOXA3	O43365	p.Gln292Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108373G>T	NCI-TCGA
HOXA3	O43365	p.Gln292Arg	rs759097377	missense variant	-	NC_000007.14:g.27108372T>C	ExAC,gnomAD
HOXA3	O43365	p.Gln292Pro	rs759097377	missense variant	-	NC_000007.14:g.27108372T>G	ExAC,gnomAD
HOXA3	O43365	p.Ser293Leu	COSM4511735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108369G>A	NCI-TCGA Cosmic
HOXA3	O43365	p.Pro295ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108363G>-	NCI-TCGA
HOXA3	O43365	p.Pro295Leu	rs1247697345	missense variant	-	NC_000007.14:g.27108363G>A	TOPMed
HOXA3	O43365	p.Phe297Ser	rs1470068161	missense variant	-	NC_000007.14:g.27108357A>G	TOPMed
HOXA3	O43365	p.Lys299Arg	rs1234899381	missense variant	-	NC_000007.14:g.27108351T>C	gnomAD
HOXA3	O43365	p.Pro300His	rs150165110	missense variant	-	NC_000007.14:g.27108348G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Thr	rs373966754	missense variant	-	NC_000007.14:g.27108349G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Ser	rs373966754	missense variant	-	NC_000007.14:g.27108349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Arg	rs150165110	missense variant	-	NC_000007.14:g.27108348G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Leu	rs150165110	missense variant	-	NC_000007.14:g.27108348G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro301Leu	rs200545147	missense variant	-	NC_000007.14:g.27108345G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gln302ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108343_27108344insT	NCI-TCGA
HOXA3	O43365	p.Gln302ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108343G>-	NCI-TCGA
HOXA3	O43365	p.Gly303Ser	rs1407346769	missense variant	-	NC_000007.14:g.27108340C>T	TOPMed
HOXA3	O43365	p.Thr304Pro	rs565794030	missense variant	-	NC_000007.14:g.27108337T>G	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr304Asn	rs750997164	missense variant	-	NC_000007.14:g.27108336G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr304Ala	rs565794030	missense variant	-	NC_000007.14:g.27108337T>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr304Ser	rs750997164	missense variant	-	NC_000007.14:g.27108336G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr305Cys	rs1464701249	missense variant	-	NC_000007.14:g.27108333T>C	gnomAD
HOXA3	O43365	p.Pro308Leu	rs781736448	missense variant	-	NC_000007.14:g.27108324G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro308Ser	rs1441693252	missense variant	-	NC_000007.14:g.27108325G>A	gnomAD
HOXA3	O43365	p.Ala310ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108320G>-	NCI-TCGA
HOXA3	O43365	p.Ala310ArgPheSerTerUnkUnk	COSM3027105	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27108319_27108320insG	NCI-TCGA Cosmic
HOXA3	O43365	p.Ala310Val	rs1306048165	missense variant	-	NC_000007.14:g.27108318G>A	TOPMed
HOXA3	O43365	p.Ala310Thr	rs552448449	missense variant	-	NC_000007.14:g.27108319C>T	1000Genomes,ExAC
HOXA3	O43365	p.Tyr312Cys	rs1437186333	missense variant	-	NC_000007.14:g.27108312T>C	gnomAD
HOXA3	O43365	p.Pro313Thr	rs1279020607	missense variant	-	NC_000007.14:g.27108310G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro313Leu	rs764361714	missense variant	-	NC_000007.14:g.27108309G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala314Gly	rs759274828	missense variant	-	NC_000007.14:g.27108306G>C	ExAC,gnomAD
HOXA3	O43365	p.Ser318ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108269_27108293CTGTGGGGGTGGCGGGGGTGCGCAG>-	NCI-TCGA
HOXA3	O43365	p.Cys319Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.27108290G>T	NCI-TCGA
HOXA3	O43365	p.Cys319Ser	COSM3637719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108292A>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Ala320Thr	rs1292187242	missense variant	-	NC_000007.14:g.27108289C>T	TOPMed
HOXA3	O43365	p.Pro321Ser	rs979280899	missense variant	-	NC_000007.14:g.27108286G>A	TOPMed
HOXA3	O43365	p.Pro322Leu	rs201711921	missense variant	-	NC_000007.14:g.27108282G>A	1000Genomes,TOPMed
HOXA3	O43365	p.Pro322Ser	rs1378393036	missense variant	-	NC_000007.14:g.27108283G>A	gnomAD
HOXA3	O43365	p.Pro322Arg	rs201711921	missense variant	-	NC_000007.14:g.27108282G>C	1000Genomes,TOPMed
HOXA3	O43365	p.Pro324Ser	rs1306476864	missense variant	-	NC_000007.14:g.27108277G>A	gnomAD
HOXA3	O43365	p.Pro325Thr	rs753413571	missense variant	-	NC_000007.14:g.27108274G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gln326Arg	rs1203455918	missense variant	-	NC_000007.14:g.27108270T>C	TOPMed
HOXA3	O43365	p.Arg328Gly	rs1336528766	missense variant	-	NC_000007.14:g.27108265G>C	TOPMed,gnomAD
HOXA3	O43365	p.Arg328Cys	rs1336528766	missense variant	-	NC_000007.14:g.27108265G>A	TOPMed,gnomAD
HOXA3	O43365	p.Thr330Lys	rs760140639	missense variant	-	NC_000007.14:g.27108258G>T	ExAC,gnomAD
HOXA3	O43365	p.Thr330Ala	rs1483679216	missense variant	-	NC_000007.14:g.27108259T>C	TOPMed
HOXA3	O43365	p.Ala331Thr	rs772052156	missense variant	-	NC_000007.14:g.27108256C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala331Glu	rs1421765421	missense variant	-	NC_000007.14:g.27108255G>T	gnomAD
HOXA3	O43365	p.Ala332Ser	rs1023423585	missense variant	-	NC_000007.14:g.27108253C>A	TOPMed
HOXA3	O43365	p.Gly333Arg	rs1366839347	missense variant	-	NC_000007.14:g.27108250C>T	TOPMed
HOXA3	O43365	p.Gly333Glu	rs1158154489	missense variant	-	NC_000007.14:g.27108249C>T	gnomAD
HOXA3	O43365	p.Gly337Arg	rs1014177801	missense variant	-	NC_000007.14:g.27108238C>T	TOPMed,gnomAD
HOXA3	O43365	p.Gly338Cys	rs774237769	missense variant	-	NC_000007.14:g.27108235C>A	ExAC,gnomAD
HOXA3	O43365	p.Gly338Val	rs768312265	missense variant	-	NC_000007.14:g.27108234C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly338Asp	rs768312265	missense variant	-	NC_000007.14:g.27108234C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly338Ala	rs768312265	missense variant	-	NC_000007.14:g.27108234C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr339Asn	rs749547060	missense variant	-	NC_000007.14:g.27108231G>T	ExAC,gnomAD
HOXA3	O43365	p.Thr339Ile	rs749547060	missense variant	-	NC_000007.14:g.27108231G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro340Arg	rs780381363	missense variant	-	NC_000007.14:g.27108228G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro340Ala	rs1311738836	missense variant	-	NC_000007.14:g.27108229G>C	TOPMed
HOXA3	O43365	p.Pro344ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108216G>-	NCI-TCGA
HOXA3	O43365	p.Pro344Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108216G>T	NCI-TCGA
HOXA3	O43365	p.Pro344Leu	rs1217825036	missense variant	-	NC_000007.14:g.27108216G>A	TOPMed,gnomAD
HOXA3	O43365	p.His345Tyr	rs570052000	missense variant	-	NC_000007.14:g.27108214G>A	1000Genomes
HOXA3	O43365	p.His345Gln	rs1001112419	missense variant	-	NC_000007.14:g.27108212G>C	TOPMed,gnomAD
HOXA3	O43365	p.His345Gln	rs1001112419	missense variant	-	NC_000007.14:g.27108212G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ala346Thr	COSM1088849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108211C>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Ala346Ser	rs1286530524	missense variant	-	NC_000007.14:g.27108211C>A	gnomAD
HOXA3	O43365	p.His347Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108208G>T	NCI-TCGA
HOXA3	O43365	p.His347Gln	rs1299213518	missense variant	-	NC_000007.14:g.27108206A>C	gnomAD
HOXA3	O43365	p.His347Arg	rs757849445	missense variant	-	NC_000007.14:g.27108207T>C	ExAC,gnomAD
HOXA3	O43365	p.His347Tyr	rs781409624	missense variant	-	NC_000007.14:g.27108208G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly348Ser	rs1402034451	missense variant	-	NC_000007.14:g.27108205C>T	gnomAD
HOXA3	O43365	p.Leu349Arg	rs778253017	missense variant	-	NC_000007.14:g.27108201A>C	ExAC,gnomAD
HOXA3	O43365	p.Gly351Val	rs1414443311	missense variant	-	NC_000007.14:g.27108195C>A	gnomAD
HOXA3	O43365	p.Asn352Lys	rs1164859943	missense variant	-	NC_000007.14:g.27108191G>T	gnomAD
HOXA3	O43365	p.Gly353Ser	rs867211343	missense variant	-	NC_000007.14:g.27108190C>T	TOPMed
HOXA3	O43365	p.Tyr355Cys	rs530214829	missense variant	-	NC_000007.14:g.27108183T>C	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Thr357Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108177G>C	NCI-TCGA
HOXA3	O43365	p.Thr357Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108177G>T	NCI-TCGA
HOXA3	O43365	p.His359Asp	rs886301075	missense variant	-	NC_000007.14:g.27108172G>C	TOPMed
HOXA3	O43365	p.Ile360Thr	rs749999775	missense variant	-	NC_000007.14:g.27108168A>G	ExAC,gnomAD
HOXA3	O43365	p.Ile360Met	rs1214448909	missense variant	-	NC_000007.14:g.27108167T>C	gnomAD
HOXA3	O43365	p.Ile360Val	rs1254158602	missense variant	-	NC_000007.14:g.27108169T>C	TOPMed
HOXA3	O43365	p.Gln361Glu	rs1444149365	missense variant	-	NC_000007.14:g.27108166G>C	TOPMed
HOXA3	O43365	p.Gly362Glu	rs200453383	missense variant	-	NC_000007.14:g.27108162C>T	1000Genomes,ExAC
HOXA3	O43365	p.Gly362Arg	rs1188340147	missense variant	-	NC_000007.14:g.27108163C>T	TOPMed
HOXA3	O43365	p.Pro364Ala	rs763980001	missense variant	-	NC_000007.14:g.27108157G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val365Ile	rs775867530	missense variant	-	NC_000007.14:g.27108154C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val365Phe	rs775867530	missense variant	-	NC_000007.14:g.27108154C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val367Met	COSM3880392	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108148C>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Val367Leu	rs1430317144	missense variant	-	NC_000007.14:g.27108148C>A	TOPMed
HOXA3	O43365	p.Gly368Ala	rs747577258	missense variant	-	NC_000007.14:g.27108144C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly368Trp	rs770893814	missense variant	-	NC_000007.14:g.27108145C>A	ExAC,gnomAD
HOXA3	O43365	p.Gly369Cys	rs1300699662	missense variant	-	NC_000007.14:g.27108142C>A	gnomAD
HOXA3	O43365	p.Gly369Asp	rs1038727391	missense variant	-	NC_000007.14:g.27108141C>T	TOPMed
HOXA3	O43365	p.Pro374Ser	rs778107219	missense variant	-	NC_000007.14:g.27108127G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Met375Leu	rs748456888	missense variant	-	NC_000007.14:g.27108124T>G	ExAC,gnomAD
HOXA3	O43365	p.Met375Thr	rs111910536	missense variant	-	NC_000007.14:g.27108123A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Met375Val	rs748456888	missense variant	-	NC_000007.14:g.27108124T>C	ExAC,gnomAD
HOXA3	O43365	p.Ser376Asn	rs148881843	missense variant	-	NC_000007.14:g.27108120C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn377Ser	rs370472758	missense variant	-	NC_000007.14:g.27108117T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly379Ala	rs1254705443	missense variant	-	NC_000007.14:g.27108111C>G	TOPMed
HOXA3	O43365	p.Pro380Gln	COSM6109644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27108108G>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Pro380Ala	rs763878865	missense variant	-	NC_000007.14:g.27108109G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro380Leu	rs1218691568	missense variant	-	NC_000007.14:g.27108108G>A	gnomAD
HOXA3	O43365	p.Leu382Ile	rs762935434	missense variant	-	NC_000007.14:g.27108103G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly384Asp	rs1200920348	missense variant	-	NC_000007.14:g.27108096C>T	TOPMed,gnomAD
HOXA3	O43365	p.His387Asn	rs775493554	missense variant	-	NC_000007.14:g.27108088G>T	ExAC,gnomAD
HOXA3	O43365	p.Leu388Val	rs759888198	missense variant	-	NC_000007.14:g.27108085G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro389Arg	rs771076275	missense variant	-	NC_000007.14:g.27108081G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro389Ser	rs776948256	missense variant	-	NC_000007.14:g.27108082G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro389Leu	rs771076275	missense variant	-	NC_000007.14:g.27108081G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His390ThrPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108079G>-	NCI-TCGA
HOXA3	O43365	p.His390ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108078_27108079insG	NCI-TCGA
HOXA3	O43365	p.His390Asp	rs746997972	missense variant	-	NC_000007.14:g.27108079G>C	ExAC,gnomAD
HOXA3	O43365	p.His390Asn	rs746997972	missense variant	-	NC_000007.14:g.27108079G>T	ExAC,gnomAD
HOXA3	O43365	p.His390Leu	rs1370167466	missense variant	-	NC_000007.14:g.27108078T>A	gnomAD
HOXA3	O43365	p.Ser393Leu	rs773785595	missense variant	-	NC_000007.14:g.27108069G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly394Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108066C>T	NCI-TCGA
HOXA3	O43365	p.Gly394Val	rs772517713	missense variant	-	NC_000007.14:g.27108066C>A	ExAC,gnomAD
HOXA3	O43365	p.Ala395Thr	rs374297287	missense variant	-	NC_000007.14:g.27108064C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala395Ser	rs374297287	missense variant	-	NC_000007.14:g.27108064C>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Met396Arg	rs1188965898	missense variant	-	NC_000007.14:g.27108060A>C	gnomAD
HOXA3	O43365	p.Met396Val	rs1426773608	missense variant	-	NC_000007.14:g.27108061T>C	gnomAD
HOXA3	O43365	p.Tyr398His	rs1453199220	missense variant	-	NC_000007.14:g.27108055A>G	TOPMed,gnomAD
HOXA3	O43365	p.Tyr398Cys	rs1387362776	missense variant	-	NC_000007.14:g.27108054T>C	TOPMed
HOXA3	O43365	p.Tyr398Asn	rs1453199220	missense variant	-	NC_000007.14:g.27108055A>T	TOPMed,gnomAD
HOXA3	O43365	p.Gly400ValPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108048C>-	NCI-TCGA
HOXA3	O43365	p.Gly400Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27108048C>T	NCI-TCGA
HOXA3	O43365	p.Gly400Ala	rs1322075599	missense variant	-	NC_000007.14:g.27108048C>G	TOPMed
HOXA3	O43365	p.Gly400Ser	rs1455307732	missense variant	-	NC_000007.14:g.27108049C>T	TOPMed
HOXA3	O43365	p.Ala401Thr	rs1238246500	missense variant	-	NC_000007.14:g.27108046C>T	gnomAD
HOXA3	O43365	p.Ala401Val	rs1181118542	missense variant	-	NC_000007.14:g.27108045G>A	gnomAD
HOXA3	O43365	p.Ala401Ser	rs1238246500	missense variant	-	NC_000007.14:g.27108046C>A	gnomAD
HOXA3	O43365	p.Gly402Trp	rs1436225656	missense variant	-	NC_000007.14:g.27108043C>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro403Leu	rs745550334	missense variant	-	NC_000007.14:g.27108039G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Leu404Val	rs763656046	missense variant	-	NC_000007.14:g.27108037G>C	ExAC,gnomAD
HOXA3	O43365	p.Gly405Asp	rs1276689923	missense variant	-	NC_000007.14:g.27108033C>T	gnomAD
HOXA3	O43365	p.Ser406Gly	rs752660851	missense variant	-	NC_000007.14:g.27108031T>C	ExAC,gnomAD
HOXA3	O43365	p.Gly407Ser	rs1311531547	missense variant	-	NC_000007.14:g.27108028C>T	gnomAD
HOXA3	O43365	p.Gly407Ala	rs1045749988	missense variant	-	NC_000007.14:g.27108027C>G	gnomAD
HOXA3	O43365	p.Gly407Val	rs1045749988	missense variant	-	NC_000007.14:g.27108027C>A	gnomAD
HOXA3	O43365	p.Gly407Cys	rs1311531547	missense variant	-	NC_000007.14:g.27108028C>A	gnomAD
HOXA3	O43365	p.His409Arg	rs1297416759	missense variant	-	NC_000007.14:g.27108021T>C	gnomAD
HOXA3	O43365	p.His409Gln	rs375670849	missense variant	-	NC_000007.14:g.27108020G>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His410Arg	rs760941463	missense variant	-	NC_000007.14:g.27108018T>C	ExAC,gnomAD
HOXA3	O43365	p.His410Asp	rs766458165	missense variant	-	NC_000007.14:g.27108019G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His410Asn	rs766458165	missense variant	-	NC_000007.14:g.27108019G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His410Gln	rs773201682	missense variant	-	NC_000007.14:g.27108017G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly411Arg	rs772165466	missense variant	-	NC_000007.14:g.27108016C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro412ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.27108012G>-	NCI-TCGA
HOXA3	O43365	p.Pro412Leu	rs545309894	missense variant	-	NC_000007.14:g.27108012G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro412Ser	rs762328098	missense variant	-	NC_000007.14:g.27108013G>A	ExAC,gnomAD
HOXA3	O43365	p.Gly413Glu	rs1182815253	missense variant	-	NC_000007.14:g.27108009C>T	gnomAD
HOXA3	O43365	p.Gly415Arg	rs371131962	missense variant	-	NC_000007.14:g.27108004C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly415Val	rs749595911	missense variant	-	NC_000007.14:g.27108003C>A	ExAC,gnomAD
HOXA3	O43365	p.Glu416Asp	rs780452042	missense variant	-	NC_000007.14:g.27107999C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Glu416Lys	rs1265049115	missense variant	-	NC_000007.14:g.27108001C>T	TOPMed
HOXA3	O43365	p.Pro417Leu	rs770556616	missense variant	-	NC_000007.14:g.27107997G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro417Thr	rs1488723579	missense variant	-	NC_000007.14:g.27107998G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro417Ser	rs1488723579	missense variant	-	NC_000007.14:g.27107998G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro419His	rs576361734	missense variant	-	NC_000007.14:g.27107991G>T	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Thr420Ser	rs777199380	missense variant	-	NC_000007.14:g.27107988G>C	ExAC,gnomAD
HOXA3	O43365	p.Thr420Ile	rs777199380	missense variant	-	NC_000007.14:g.27107988G>A	ExAC,gnomAD
HOXA3	O43365	p.Tyr421Ter	rs534977529	stop gained	-	NC_000007.14:g.27107984G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr421Cys	rs757934192	missense variant	-	NC_000007.14:g.27107985T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr422Met	rs538585158	missense variant	-	NC_000007.14:g.27107982G>A	gnomAD
HOXA3	O43365	p.Asp423Asn	rs371241609	missense variant	-	NC_000007.14:g.27107980C>T	ESP,TOPMed
HOXA3	O43365	p.Asp423Glu	rs748997447	missense variant	-	NC_000007.14:g.27107978G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Leu424Ile	rs766164161	missense variant	-	NC_000007.14:g.27107977G>T	ExAC,gnomAD
HOXA3	O43365	p.Thr425Ile	rs1450920595	missense variant	-	NC_000007.14:g.27107973G>A	gnomAD
HOXA3	O43365	p.Gly426Ser	rs1483717034	missense variant	-	NC_000007.14:g.27107971C>T	gnomAD
HOXA3	O43365	p.Gly426Ala	rs1166189290	missense variant	-	NC_000007.14:g.27107970C>G	gnomAD
HOXA3	O43365	p.His427Gln	rs750607456	missense variant	-	NC_000007.14:g.27107966G>C	ExAC,gnomAD
HOXA3	O43365	p.His428Pro	rs767612903	missense variant	-	NC_000007.14:g.27107964T>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His428Arg	rs767612903	missense variant	-	NC_000007.14:g.27107964T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro429Ser	rs1328693386	missense variant	-	NC_000007.14:g.27107962G>A	TOPMed
HOXA3	O43365	p.Ser430Phe	rs761812872	missense variant	-	NC_000007.14:g.27107958G>A	ExAC,gnomAD
HOXA3	O43365	p.Gln431Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.27107956G>A	NCI-TCGA
HOXA3	O43365	p.Gln431Leu	rs1478285275	missense variant	-	NC_000007.14:g.27107955T>A	gnomAD
HOXA3	O43365	p.Gln431Arg	rs1478285275	missense variant	-	NC_000007.14:g.27107955T>C	gnomAD
HOXA3	O43365	p.Gly432Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27107952C>T	NCI-TCGA
HOXA3	O43365	p.Gly432Ter	COSM6109645	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.27107953C>A	NCI-TCGA Cosmic
HOXA3	O43365	p.Gly432Arg	rs1289116241	missense variant	-	NC_000007.14:g.27107953C>T	TOPMed
HOXA3	O43365	p.Arg433Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.27107949C>T	NCI-TCGA
HOXA3	O43365	p.Glu436Gly	rs556513817	missense variant	-	NC_000007.14:g.27107940T>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala437Glu	COSM6177255	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27107937G>T	NCI-TCGA Cosmic
HOXA3	O43365	p.Ala437Val	rs763446165	missense variant	-	NC_000007.14:g.27107937G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala437Thr	rs769210162	missense variant	-	NC_000007.14:g.27107938C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Lys439Glu	rs775758892	missense variant	-	NC_000007.14:g.27107932T>C	ExAC,gnomAD
HOXA3	O43365	p.Lys439Thr	rs1291241613	missense variant	-	NC_000007.14:g.27107931T>G	gnomAD
HOXA3	O43365	p.Leu440Phe	COSM600804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.27107929G>A	NCI-TCGA Cosmic
HOXA3	O43365	p.Thr441Ser	rs770172796	missense variant	-	NC_000007.14:g.27107925G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr441Ile	rs770172796	missense variant	-	NC_000007.14:g.27107925G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His442Tyr	rs746664809	missense variant	-	NC_000007.14:g.27107923G>A	ExAC,gnomAD
HOXA3	O43365	p.Leu443Val	rs771716222	missense variant	-	NC_000007.14:g.27107920G>C	ExAC,gnomAD
HOXA3	O43365	p.Gln2His	rs977011633	missense variant	-	NC_000007.14:g.27110635T>G	TOPMed
HOXA3	O43365	p.Ala4Val	rs1326302466	missense variant	-	NC_000007.14:g.27110630G>A	gnomAD
HOXA3	O43365	p.Thr5Ile	rs767689192	missense variant	-	NC_000007.14:g.27110627G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr7Cys	rs757907805	missense variant	-	NC_000007.14:g.27110621T>C	ExAC,gnomAD
HOXA3	O43365	p.Ser10Leu	rs1300171872	missense variant	-	NC_000007.14:g.27110612G>A	gnomAD
HOXA3	O43365	p.Ala11Ser	rs1399554991	missense variant	-	NC_000007.14:g.27110610C>A	gnomAD
HOXA3	O43365	p.Ala11Val	rs1337485368	missense variant	-	NC_000007.14:g.27110609G>A	TOPMed,gnomAD
HOXA3	O43365	p.Ala11Glu	rs1337485368	missense variant	-	NC_000007.14:g.27110609G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ile12Phe	rs1020789194	missense variant	-	NC_000007.14:g.27110607T>A	TOPMed
HOXA3	O43365	p.Gly14Ser	rs765445228	missense variant	-	NC_000007.14:g.27110601C>T	gnomAD
HOXA3	O43365	p.Gly15Ser	rs752084362	missense variant	-	NC_000007.14:g.27110598C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro17Ala	rs763332746	missense variant	-	NC_000007.14:g.27110592G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro17Thr	rs763332746	missense variant	-	NC_000007.14:g.27110592G>T	ExAC,gnomAD
HOXA3	O43365	p.Ala20Pro	rs765991905	missense variant	-	NC_000007.14:g.27110583C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala20Val	rs1169731987	missense variant	-	NC_000007.14:g.27110582G>A	TOPMed,gnomAD
HOXA3	O43365	p.Ala21Asp	rs1236976167	missense variant	-	NC_000007.14:g.27110579G>T	gnomAD
HOXA3	O43365	p.Asn22Ser	rs1365636540	missense variant	-	NC_000007.14:g.27110576T>C	TOPMed
HOXA3	O43365	p.Gly23Arg	rs760117879	missense variant	-	NC_000007.14:g.27110574C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala25Ser	rs1424321019	missense variant	-	NC_000007.14:g.27110568C>A	gnomAD
HOXA3	O43365	p.Asn27Lys	rs771538813	missense variant	-	NC_000007.14:g.27110560A>C	ExAC,gnomAD
HOXA3	O43365	p.Asn29Ser	rs748131705	missense variant	-	NC_000007.14:g.27110555T>C	ExAC,gnomAD
HOXA3	O43365	p.Pro32Thr	rs774223850	missense variant	-	NC_000007.14:g.27110547G>T	ExAC,gnomAD
HOXA3	O43365	p.Pro32Leu	rs1376465603	missense variant	-	NC_000007.14:g.27110546G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro32Arg	rs1376465603	missense variant	-	NC_000007.14:g.27110546G>C	TOPMed,gnomAD
HOXA3	O43365	p.Tyr33Asn	rs1454687111	missense variant	-	NC_000007.14:g.27110544A>T	gnomAD
HOXA3	O43365	p.Pro34Gln	rs1448611789	missense variant	-	NC_000007.14:g.27110540G>T	TOPMed
HOXA3	O43365	p.Ala35Val	rs749040963	missense variant	-	NC_000007.14:g.27110537G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala37Val	rs746085776	missense variant	-	NC_000007.14:g.27110531G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala38Ser	rs1379341623	missense variant	-	NC_000007.14:g.27110529C>A	gnomAD
HOXA3	O43365	p.Ala41Gly	rs757393983	missense variant	-	NC_000007.14:g.27110519G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala41Thr	rs1183641928	missense variant	-	NC_000007.14:g.27110520C>T	gnomAD
HOXA3	O43365	p.Asp42Asn	rs764656757	missense variant	-	NC_000007.14:g.27110517C>T	ExAC,gnomAD
HOXA3	O43365	p.Asp42Asn	rs764656757	missense variant	-	NC_000007.14:g.27110517C>T	UniProt,dbSNP
HOXA3	O43365	p.Asp42Asn	VAR_036264	missense variant	-	NC_000007.14:g.27110517C>T	UniProt
HOXA3	O43365	p.Asp42Tyr	rs764656757	missense variant	-	NC_000007.14:g.27110517C>A	ExAC,gnomAD
HOXA3	O43365	p.Asp42Glu	rs758695156	missense variant	-	NC_000007.14:g.27110515G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly43Ser	rs146381041	missense variant	-	NC_000007.14:g.27110514C>T	ESP,ExAC,gnomAD
HOXA3	O43365	p.Glu44Lys	rs905445520	missense variant	-	NC_000007.14:g.27110511C>T	TOPMed,gnomAD
HOXA3	O43365	p.Glu44Gln	rs905445520	missense variant	-	NC_000007.14:g.27110511C>G	TOPMed,gnomAD
HOXA3	O43365	p.His46Arg	rs1353222884	missense variant	-	NC_000007.14:g.27110504T>C	gnomAD
HOXA3	O43365	p.His46Gln	rs373369365	missense variant	-	NC_000007.14:g.27110503G>T	ESP,ExAC,gnomAD
HOXA3	O43365	p.Arg47Gln	rs760414819	missense variant	-	NC_000007.14:g.27110501C>T	ExAC,gnomAD
HOXA3	O43365	p.Arg47Ter	rs1248247321	stop gained	-	NC_000007.14:g.27110502G>A	gnomAD
HOXA3	O43365	p.Pro48Leu	rs750054841	missense variant	-	NC_000007.14:g.27110498G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro48Thr	rs1157184308	missense variant	-	NC_000007.14:g.27110499G>T	TOPMed
HOXA3	O43365	p.Ala49Thr	rs1362603166	missense variant	-	NC_000007.14:g.27110496C>T	gnomAD
HOXA3	O43365	p.Ala49Val	rs761272954	missense variant	-	NC_000007.14:g.27110495G>A	ExAC,TOPMed
HOXA3	O43365	p.Leu52Phe	rs1290374206	missense variant	-	NC_000007.14:g.27110487G>A	gnomAD
HOXA3	O43365	p.Pro55Leu	rs774271981	missense variant	-	NC_000007.14:g.27110477G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro55Ser	rs1010368098	missense variant	-	NC_000007.14:g.27110478G>A	gnomAD
HOXA3	O43365	p.Ser57Thr	rs762783980	missense variant	-	NC_000007.14:g.27110471C>G	ExAC,gnomAD
HOXA3	O43365	p.Ala58Ser	rs78276647	missense variant	-	NC_000007.14:g.27110469C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala58Thr	rs78276647	missense variant	-	NC_000007.14:g.27110469C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala58Val	rs769448301	missense variant	-	NC_000007.14:g.27110468G>A	ExAC,gnomAD
HOXA3	O43365	p.Gly59Arg	rs746145258	missense variant	-	NC_000007.14:g.27110466C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly59Arg	rs746145258	missense variant	-	NC_000007.14:g.27110466C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly60Asp	rs1357576963	missense variant	-	NC_000007.14:g.27110462C>T	gnomAD
HOXA3	O43365	p.Gly60Ser	rs781519766	missense variant	-	NC_000007.14:g.27110463C>T	ExAC,gnomAD
HOXA3	O43365	p.Gly60Cys	rs781519766	missense variant	-	NC_000007.14:g.27110463C>A	ExAC,gnomAD
HOXA3	O43365	p.His61Tyr	rs1264893550	missense variant	-	NC_000007.14:g.27110460G>A	gnomAD
HOXA3	O43365	p.Lys63Asn	rs1215827508	missense variant	-	NC_000007.14:g.27110452C>G	TOPMed,gnomAD
HOXA3	O43365	p.Ala64Thr	rs1307976324	missense variant	-	NC_000007.14:g.27110451C>T	gnomAD
HOXA3	O43365	p.Glu66Lys	rs1297705629	missense variant	-	NC_000007.14:g.27110445C>T	gnomAD
HOXA3	O43365	p.Leu67Pro	rs747018825	missense variant	-	NC_000007.14:g.27110441A>G	ExAC,gnomAD
HOXA3	O43365	p.Ser68Cys	rs1303548549	missense variant	-	NC_000007.14:g.27110439T>A	gnomAD
HOXA3	O43365	p.Ser68Asn	rs1406341406	missense variant	-	NC_000007.14:g.27110438C>T	gnomAD
HOXA3	O43365	p.Cys71Trp	rs753110975	missense variant	-	NC_000007.14:g.27110428G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Cys71Ser	rs759004454	missense variant	-	NC_000007.14:g.27110429C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg73Cys	rs779382325	missense variant	-	NC_000007.14:g.27110424G>A	ExAC,gnomAD
HOXA3	O43365	p.Arg73His	rs1202077053	missense variant	-	NC_000007.14:g.27110423C>T	gnomAD
HOXA3	O43365	p.Leu75Val	rs755285275	missense variant	-	NC_000007.14:g.27110418G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala77Thr	rs1196439232	missense variant	-	NC_000007.14:g.27110412C>T	gnomAD
HOXA3	O43365	p.Ala77Val	rs750106752	missense variant	-	NC_000007.14:g.27110411G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro78Thr	rs900192762	missense variant	-	NC_000007.14:g.27110409G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro79Ser	rs761322128	missense variant	-	NC_000007.14:g.27110406G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro79Ala	rs761322128	missense variant	-	NC_000007.14:g.27110406G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro79Arg	rs1467089174	missense variant	-	NC_000007.14:g.27110405G>C	TOPMed
HOXA3	O43365	p.Ser80Gly	rs1214970882	missense variant	-	NC_000007.14:g.27110403T>C	TOPMed
HOXA3	O43365	p.Pro82Leu	rs1357808537	missense variant	-	NC_000007.14:g.27110396G>A	gnomAD
HOXA3	O43365	p.Pro83Ala	rs763505092	missense variant	-	NC_000007.14:g.27110394G>C	ExAC,gnomAD
HOXA3	O43365	p.Ser84Arg	rs762990429	missense variant	-	NC_000007.14:g.27110389G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Glu87Lys	rs775268517	missense variant	-	NC_000007.14:g.27110382C>T	ExAC,gnomAD
HOXA3	O43365	p.Glu87Gly	rs563924162	missense variant	-	NC_000007.14:g.27110381T>C	1000Genomes,gnomAD
HOXA3	O43365	p.Pro88Gln	rs1038708524	missense variant	-	NC_000007.14:g.27110378G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro88Arg	rs1038708524	missense variant	-	NC_000007.14:g.27110378G>C	TOPMed,gnomAD
HOXA3	O43365	p.Leu90Met	rs769654378	missense variant	-	NC_000007.14:g.27110373G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His91Pro	rs1477274540	missense variant	-	NC_000007.14:g.27110369T>G	gnomAD
HOXA3	O43365	p.His91Gln	rs1377277486	missense variant	-	NC_000007.14:g.27110368G>T	gnomAD
HOXA3	O43365	p.Pro92Leu	rs1439787224	missense variant	-	NC_000007.14:g.27110366G>A	gnomAD
HOXA3	O43365	p.Pro92Ser	rs1182712985	missense variant	-	NC_000007.14:g.27110367G>A	gnomAD
HOXA3	O43365	p.Pro92Thr	rs1182712985	missense variant	-	NC_000007.14:g.27110367G>T	gnomAD
HOXA3	O43365	p.Pro94Leu	rs200842771	missense variant	-	NC_000007.14:g.27110360G>A	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Pro95Leu	rs1457237532	missense variant	-	NC_000007.14:g.27110357G>A	gnomAD
HOXA3	O43365	p.Pro95Ala	rs777001617	missense variant	-	NC_000007.14:g.27110358G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gln96Pro	rs1399706028	missense variant	-	NC_000007.14:g.27110354T>G	TOPMed
HOXA3	O43365	p.Ala98Val	rs1331206506	missense variant	-	NC_000007.14:g.27110348G>A	TOPMed
HOXA3	O43365	p.Pro99Leu	rs1337294972	missense variant	-	NC_000007.14:g.27110345G>A	TOPMed
HOXA3	O43365	p.Pro99Ser	rs1274034380	missense variant	-	NC_000007.14:g.27110346G>A	gnomAD
HOXA3	O43365	p.Ala101Thr	rs1283416319	missense variant	-	NC_000007.14:g.27110340C>T	TOPMed
HOXA3	O43365	p.Pro104Gln	rs1273239422	missense variant	-	NC_000007.14:g.27110330G>T	TOPMed
HOXA3	O43365	p.Gln106Arg	rs1316838520	missense variant	-	NC_000007.14:g.27110324T>C	TOPMed
HOXA3	O43365	p.Pro107His	rs1306411661	missense variant	-	NC_000007.14:g.27110321G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ala108Ser	rs1187228858	missense variant	-	NC_000007.14:g.27110319C>A	TOPMed
HOXA3	O43365	p.Pro109Thr	rs1445457290	missense variant	-	NC_000007.14:g.27110316G>T	gnomAD
HOXA3	O43365	p.Pro109Leu	rs747224903	missense variant	-	NC_000007.14:g.27110315G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro111Arg	rs777978952	missense variant	-	NC_000007.14:g.27110309G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro111Leu	rs777978952	missense variant	-	NC_000007.14:g.27110309G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro111Ala	rs1255870498	missense variant	-	NC_000007.14:g.27110310G>C	TOPMed
HOXA3	O43365	p.Ala113Thr	rs1423004393	missense variant	-	NC_000007.14:g.27110304C>T	TOPMed
HOXA3	O43365	p.Pro114Ser	rs1159528797	missense variant	-	NC_000007.14:g.27110301G>A	gnomAD
HOXA3	O43365	p.Pro114Leu	rs976697190	missense variant	-	NC_000007.14:g.27110300G>A	TOPMed,gnomAD
HOXA3	O43365	p.Thr115Pro	rs530713477	missense variant	-	NC_000007.14:g.27110298T>G	1000Genomes,gnomAD
HOXA3	O43365	p.Pro116Ala	rs748707785	missense variant	-	NC_000007.14:g.27110295G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala117Val	rs1445374925	missense variant	-	NC_000007.14:g.27110291G>A	gnomAD
HOXA3	O43365	p.Ala118Gly	rs1212072086	missense variant	-	NC_000007.14:g.27110288G>C	gnomAD
HOXA3	O43365	p.Ala118Val	rs1212072086	missense variant	-	NC_000007.14:g.27110288G>A	gnomAD
HOXA3	O43365	p.Pro119Ser	rs1440644090	missense variant	-	NC_000007.14:g.27110286G>A	gnomAD
HOXA3	O43365	p.Pro120Ser	rs1333238267	missense variant	-	NC_000007.14:g.27110283G>A	TOPMed
HOXA3	O43365	p.Pro120Arg	rs1205537984	missense variant	-	NC_000007.14:g.27110282G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro120Leu	rs1205537984	missense variant	-	NC_000007.14:g.27110282G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro121Ser	rs780382886	missense variant	-	NC_000007.14:g.27110280G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro122Ala	rs751139252	missense variant	-	NC_000007.14:g.27110277G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro122Ser	rs751139252	missense variant	-	NC_000007.14:g.27110277G>A	ExAC,gnomAD
HOXA3	O43365	p.Ser126Phe	rs757799583	missense variant	-	NC_000007.14:g.27110264G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro127Ala	rs1340431719	missense variant	-	NC_000007.14:g.27110262G>C	gnomAD
HOXA3	O43365	p.Pro128Ser	rs141597317	missense variant	-	NC_000007.14:g.27110259G>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro128Leu	rs765017652	missense variant	-	NC_000007.14:g.27110258G>A	ExAC,gnomAD
HOXA3	O43365	p.Gln129Pro	rs759421760	missense variant	-	NC_000007.14:g.27110255T>G	ExAC
HOXA3	O43365	p.Ala131Thr	VAR_036265	Missense	-	-	UniProt
HOXA3	O43365	p.Ser132Gly	rs1020839960	missense variant	-	NC_000007.14:g.27110247T>C	TOPMed
HOXA3	O43365	p.Asn133Lys	rs987965306	missense variant	-	NC_000007.14:g.27110242G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro135Ala	rs148350002	missense variant	-	NC_000007.14:g.27110238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro135Ser	rs148350002	missense variant	-	NC_000007.14:g.27110238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro135Leu	rs761025094	missense variant	-	NC_000007.14:g.27110237G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro135Thr	rs148350002	missense variant	-	NC_000007.14:g.27110238G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala138Val	rs748105640	missense variant	-	NC_000007.14:g.27110228G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala138Pro	rs772220854	missense variant	-	NC_000007.14:g.27110229C>G	ExAC,gnomAD
HOXA3	O43365	p.Ala140Val	rs769208429	missense variant	-	NC_000007.14:g.27110222G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala140Glu	rs769208429	missense variant	-	NC_000007.14:g.27110222G>T	ExAC,gnomAD
HOXA3	O43365	p.Ser143Arg	rs1235437557	missense variant	-	NC_000007.14:g.27110212G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro144Leu	rs756450304	missense variant	-	NC_000007.14:g.27110210G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro144Ser	rs375062129	missense variant	-	NC_000007.14:g.27110211G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro144Arg	rs756450304	missense variant	-	NC_000007.14:g.27110210G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro144His	rs756450304	missense variant	-	NC_000007.14:g.27110210G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Leu146Phe	rs1226155884	missense variant	-	NC_000007.14:g.27110205G>A	gnomAD
HOXA3	O43365	p.Leu146Ile	rs1226155884	missense variant	-	NC_000007.14:g.27110205G>T	gnomAD
HOXA3	O43365	p.Ser148Ala	rs777252489	missense variant	-	NC_000007.14:g.27110199A>C	ExAC,gnomAD
HOXA3	O43365	p.Ser148Leu	rs757931038	missense variant	-	NC_000007.14:g.27110198G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro149Ser	rs1338817885	missense variant	-	NC_000007.14:g.27110196G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro149Ala	rs1338817885	missense variant	-	NC_000007.14:g.27110196G>C	TOPMed,gnomAD
HOXA3	O43365	p.Val151Gly	rs1297990052	missense variant	-	NC_000007.14:g.27110189A>C	gnomAD
HOXA3	O43365	p.Ala152Asp	rs764830639	missense variant	-	NC_000007.14:g.27110186G>T	ExAC,gnomAD
HOXA3	O43365	p.Gln154Lys	rs753798091	missense variant	-	NC_000007.14:g.27110181G>T	ExAC,gnomAD
HOXA3	O43365	p.Gln154Glu	rs753798091	missense variant	-	NC_000007.14:g.27110181G>C	ExAC,gnomAD
HOXA3	O43365	p.Gln164Lys	rs1313262966	missense variant	-	NC_000007.14:g.27110151G>T	TOPMed
HOXA3	O43365	p.Lys167Arg	rs760344417	missense variant	-	NC_000007.14:g.27110141T>C	ExAC
HOXA3	O43365	p.Thr170Ala	rs773484720	missense variant	-	NC_000007.14:g.27110133T>C	ExAC,gnomAD
HOXA3	O43365	p.Ser173Phe	rs767573569	missense variant	-	NC_000007.14:g.27110123G>A	ExAC,gnomAD
HOXA3	O43365	p.Glu177Lys	rs764182354	missense variant	-	NC_000007.14:g.27108718C>T	ExAC
HOXA3	O43365	p.Ser178Arg	rs762981763	missense variant	-	NC_000007.14:g.27108713G>C	ExAC,gnomAD
HOXA3	O43365	p.Cys179Gly	rs561303614	missense variant	-	NC_000007.14:g.27108712A>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly181Cys	rs541660334	missense variant	-	NC_000007.14:g.27108706C>A	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Asp182His	rs1314381838	missense variant	-	NC_000007.14:g.27108703C>G	TOPMed,gnomAD
HOXA3	O43365	p.Asp182Tyr	rs1314381838	missense variant	-	NC_000007.14:g.27108703C>A	TOPMed,gnomAD
HOXA3	O43365	p.Lys183Asn	rs201202337	missense variant	-	NC_000007.14:g.27108698C>G	TOPMed,gnomAD
HOXA3	O43365	p.Lys183Arg	rs760079612	missense variant	-	NC_000007.14:g.27108699T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser184Asn	rs776931367	missense variant	-	NC_000007.14:g.27108696C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro185Gln	rs909441206	missense variant	-	NC_000007.14:g.27108693G>T	gnomAD
HOXA3	O43365	p.Pro185Leu	rs909441206	missense variant	-	NC_000007.14:g.27108693G>A	gnomAD
HOXA3	O43365	p.Gly187Trp	rs747806694	missense variant	-	NC_000007.14:g.27108688C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly187Glu	rs778666410	missense variant	-	NC_000007.14:g.27108687C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gln188His	rs1470258466	missense variant	-	NC_000007.14:g.27108683C>G	gnomAD
HOXA3	O43365	p.Ala189Pro	rs374352147	missense variant	-	NC_000007.14:g.27108682C>G	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala189Ser	rs374352147	missense variant	-	NC_000007.14:g.27108682C>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser190Trp	rs144351903	missense variant	-	NC_000007.14:g.27108678G>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser191Phe	rs1432196398	missense variant	-	NC_000007.14:g.27108675G>A	gnomAD
HOXA3	O43365	p.Arg193Ser	rs1230280289	missense variant	-	NC_000007.14:g.27108670G>T	TOPMed
HOXA3	O43365	p.Ala194Val	rs149479622	missense variant	-	NC_000007.14:g.27108666G>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr196Met	rs1347019202	missense variant	-	NC_000007.14:g.27108660G>A	TOPMed
HOXA3	O43365	p.Thr199Ala	rs751813350	missense variant	-	NC_000007.14:g.27108652T>C	ExAC,gnomAD
HOXA3	O43365	p.Lys208Glu	rs765359429	missense variant	-	NC_000007.14:g.27108625T>C	ExAC,gnomAD
HOXA3	O43365	p.His211Leu	rs137977036	missense variant	-	NC_000007.14:g.27108615T>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His211Arg	rs137977036	missense variant	-	NC_000007.14:g.27108615T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn213His	rs777176111	missense variant	-	NC_000007.14:g.27108610T>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg214Ser	rs1394900092	missense variant	-	NC_000007.14:g.27108607G>T	TOPMed
HOXA3	O43365	p.Arg218Trp	rs771224832	missense variant	-	NC_000007.14:g.27108595G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro219Leu	rs1381290384	missense variant	-	NC_000007.14:g.27108591G>A	gnomAD
HOXA3	O43365	p.Pro219Gln	rs1381290384	missense variant	-	NC_000007.14:g.27108591G>T	gnomAD
HOXA3	O43365	p.Arg221Leu	rs1300835427	missense variant	-	NC_000007.14:g.27108585C>A	TOPMed,gnomAD
HOXA3	O43365	p.Arg221Gln	rs1300835427	missense variant	-	NC_000007.14:g.27108585C>T	TOPMed,gnomAD
HOXA3	O43365	p.Asn226Asp	rs146963463	missense variant	-	NC_000007.14:g.27108571T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn226Ser	rs774155973	missense variant	-	NC_000007.14:g.27108570T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn229Lys	rs1367593205	missense variant	-	NC_000007.14:g.27108560G>T	TOPMed
HOXA3	O43365	p.Leu230Val	rs779749400	missense variant	-	NC_000007.14:g.27108559G>C	ExAC,gnomAD
HOXA3	O43365	p.Leu230Phe	rs779749400	missense variant	-	NC_000007.14:g.27108559G>A	ExAC,gnomAD
HOXA3	O43365	p.Arg233His	rs1254744638	missense variant	-	NC_000007.14:g.27108549C>T	gnomAD
HOXA3	O43365	p.Gln234His	rs745812862	missense variant	-	NC_000007.14:g.27108545C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Lys236Arg	rs781146610	missense variant	-	NC_000007.14:g.27108540T>C	ExAC,gnomAD
HOXA3	O43365	p.Lys248Asn	rs1214652095	missense variant	-	NC_000007.14:g.27108503C>A	gnomAD
HOXA3	O43365	p.Asp249Tyr	rs757009297	missense variant	-	NC_000007.14:g.27108502C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asp249Val	rs1292541310	missense variant	-	NC_000007.14:g.27108501T>A	TOPMed,gnomAD
HOXA3	O43365	p.Lys251Arg	rs1214401950	missense variant	-	NC_000007.14:g.27108495T>C	TOPMed
HOXA3	O43365	p.Gly254Asp	rs777531613	missense variant	-	NC_000007.14:g.27108486C>T	ExAC,gnomAD
HOXA3	O43365	p.Met255Leu	rs758689645	missense variant	-	NC_000007.14:g.27108484T>G	ExAC,gnomAD
HOXA3	O43365	p.Leu256Pro	rs752889184	missense variant	-	NC_000007.14:g.27108480A>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr257Arg	rs1397701408	missense variant	-	NC_000007.14:g.27108477G>C	TOPMed,gnomAD
HOXA3	O43365	p.Thr257Lys	rs1397701408	missense variant	-	NC_000007.14:g.27108477G>T	TOPMed,gnomAD
HOXA3	O43365	p.Gly260Glu	rs545349305	missense variant	-	NC_000007.14:g.27108468C>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly260Arg	rs761246075	missense variant	-	NC_000007.14:g.27108469C>G	ExAC,gnomAD
HOXA3	O43365	p.Gly261Asp	rs576449568	missense variant	-	NC_000007.14:g.27108465C>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly261Cys	rs1426166813	missense variant	-	NC_000007.14:g.27108466C>A	TOPMed,gnomAD
HOXA3	O43365	p.Gly261Val	rs576449568	missense variant	-	NC_000007.14:g.27108465C>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser263Ala	rs769217500	missense variant	-	NC_000007.14:g.27108460A>C	ExAC,gnomAD
HOXA3	O43365	p.Ser265Thr	rs1269933015	missense variant	-	NC_000007.14:g.27108453C>G	gnomAD
HOXA3	O43365	p.Arg266His	rs745318781	missense variant	-	NC_000007.14:g.27108450C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg266Leu	rs745318781	missense variant	-	NC_000007.14:g.27108450C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val269Leu	rs201998676	missense variant	-	NC_000007.14:g.27108442C>A	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Val269Leu	rs201998676	missense variant	-	NC_000007.14:g.27108442C>G	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Pro270Thr	rs777588656	missense variant	-	NC_000007.14:g.27108439G>T	ExAC,gnomAD
HOXA3	O43365	p.Pro270Leu	rs141075773	missense variant	-	NC_000007.14:g.27108438G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro270His	rs141075773	missense variant	-	NC_000007.14:g.27108438G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro270Ser	rs777588656	missense variant	-	NC_000007.14:g.27108439G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro271Leu	rs779159425	missense variant	-	NC_000007.14:g.27108435G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly274Cys	rs1323878374	missense variant	-	NC_000007.14:g.27108427C>A	TOPMed,gnomAD
HOXA3	O43365	p.Gly275Asp	rs138670627	missense variant	-	NC_000007.14:g.27108423C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr276Ser	rs1333146981	missense variant	-	NC_000007.14:g.27108420T>G	TOPMed
HOXA3	O43365	p.Met280Lys	rs750944445	missense variant	-	NC_000007.14:g.27108408A>T	ExAC,gnomAD
HOXA3	O43365	p.Met280Val	rs375321122	missense variant	-	NC_000007.14:g.27108409T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His281Pro	rs1435463651	missense variant	-	NC_000007.14:g.27108405T>G	gnomAD
HOXA3	O43365	p.Leu283Pro	rs1477733468	missense variant	-	NC_000007.14:g.27108399A>G	TOPMed,gnomAD
HOXA3	O43365	p.Asn285Ser	rs762227101	missense variant	-	NC_000007.14:g.27108393T>C	ExAC,gnomAD
HOXA3	O43365	p.Pro288Leu	rs1208826265	missense variant	-	NC_000007.14:g.27108384G>A	TOPMed
HOXA3	O43365	p.Glu290Gly	rs1266704911	missense variant	-	NC_000007.14:g.27108378T>C	gnomAD
HOXA3	O43365	p.Glu290Gln	rs1272072937	missense variant	-	NC_000007.14:g.27108379C>G	TOPMed
HOXA3	O43365	p.Gln292Arg	rs759097377	missense variant	-	NC_000007.14:g.27108372T>C	ExAC,gnomAD
HOXA3	O43365	p.Gln292Pro	rs759097377	missense variant	-	NC_000007.14:g.27108372T>G	ExAC,gnomAD
HOXA3	O43365	p.Pro295Leu	rs1247697345	missense variant	-	NC_000007.14:g.27108363G>A	TOPMed
HOXA3	O43365	p.Phe297Ser	rs1470068161	missense variant	-	NC_000007.14:g.27108357A>G	TOPMed
HOXA3	O43365	p.Lys299Arg	rs1234899381	missense variant	-	NC_000007.14:g.27108351T>C	gnomAD
HOXA3	O43365	p.Pro300Leu	rs150165110	missense variant	-	NC_000007.14:g.27108348G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Arg	rs150165110	missense variant	-	NC_000007.14:g.27108348G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300His	rs150165110	missense variant	-	NC_000007.14:g.27108348G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Thr	rs373966754	missense variant	-	NC_000007.14:g.27108349G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Ser	rs373966754	missense variant	-	NC_000007.14:g.27108349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro301Leu	rs200545147	missense variant	-	NC_000007.14:g.27108345G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly303Ser	rs1407346769	missense variant	-	NC_000007.14:g.27108340C>T	TOPMed
HOXA3	O43365	p.Thr304Ala	rs565794030	missense variant	-	NC_000007.14:g.27108337T>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr304Asn	rs750997164	missense variant	-	NC_000007.14:g.27108336G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr304Pro	rs565794030	missense variant	-	NC_000007.14:g.27108337T>G	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr304Ser	rs750997164	missense variant	-	NC_000007.14:g.27108336G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr305Cys	rs1464701249	missense variant	-	NC_000007.14:g.27108333T>C	gnomAD
HOXA3	O43365	p.Pro308Leu	rs781736448	missense variant	-	NC_000007.14:g.27108324G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro308Ser	rs1441693252	missense variant	-	NC_000007.14:g.27108325G>A	gnomAD
HOXA3	O43365	p.Ala310Thr	rs552448449	missense variant	-	NC_000007.14:g.27108319C>T	1000Genomes,ExAC
HOXA3	O43365	p.Ala310Val	rs1306048165	missense variant	-	NC_000007.14:g.27108318G>A	TOPMed
HOXA3	O43365	p.Tyr312Cys	rs1437186333	missense variant	-	NC_000007.14:g.27108312T>C	gnomAD
HOXA3	O43365	p.Pro313Leu	rs764361714	missense variant	-	NC_000007.14:g.27108309G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro313Thr	rs1279020607	missense variant	-	NC_000007.14:g.27108310G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ala314Gly	rs759274828	missense variant	-	NC_000007.14:g.27108306G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala320Thr	rs1292187242	missense variant	-	NC_000007.14:g.27108289C>T	TOPMed
HOXA3	O43365	p.Pro321Ser	rs979280899	missense variant	-	NC_000007.14:g.27108286G>A	TOPMed
HOXA3	O43365	p.Pro322Arg	rs201711921	missense variant	-	NC_000007.14:g.27108282G>C	1000Genomes,TOPMed
HOXA3	O43365	p.Pro322Ser	rs1378393036	missense variant	-	NC_000007.14:g.27108283G>A	gnomAD
HOXA3	O43365	p.Pro322Leu	rs201711921	missense variant	-	NC_000007.14:g.27108282G>A	1000Genomes,TOPMed
HOXA3	O43365	p.Pro324Ser	rs1306476864	missense variant	-	NC_000007.14:g.27108277G>A	gnomAD
HOXA3	O43365	p.Pro325Thr	rs753413571	missense variant	-	NC_000007.14:g.27108274G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gln326Arg	rs1203455918	missense variant	-	NC_000007.14:g.27108270T>C	TOPMed
HOXA3	O43365	p.Arg328Gly	rs1336528766	missense variant	-	NC_000007.14:g.27108265G>C	TOPMed,gnomAD
HOXA3	O43365	p.Arg328Cys	rs1336528766	missense variant	-	NC_000007.14:g.27108265G>A	TOPMed,gnomAD
HOXA3	O43365	p.Thr330Ala	rs1483679216	missense variant	-	NC_000007.14:g.27108259T>C	TOPMed
HOXA3	O43365	p.Thr330Lys	rs760140639	missense variant	-	NC_000007.14:g.27108258G>T	ExAC,gnomAD
HOXA3	O43365	p.Ala331Thr	rs772052156	missense variant	-	NC_000007.14:g.27108256C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala331Glu	rs1421765421	missense variant	-	NC_000007.14:g.27108255G>T	gnomAD
HOXA3	O43365	p.Ala332Ser	rs1023423585	missense variant	-	NC_000007.14:g.27108253C>A	TOPMed
HOXA3	O43365	p.Gly333Glu	rs1158154489	missense variant	-	NC_000007.14:g.27108249C>T	gnomAD
HOXA3	O43365	p.Gly333Arg	rs1366839347	missense variant	-	NC_000007.14:g.27108250C>T	TOPMed
HOXA3	O43365	p.Gly337Arg	rs1014177801	missense variant	-	NC_000007.14:g.27108238C>T	TOPMed,gnomAD
HOXA3	O43365	p.Gly338Val	rs768312265	missense variant	-	NC_000007.14:g.27108234C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly338Cys	rs774237769	missense variant	-	NC_000007.14:g.27108235C>A	ExAC,gnomAD
HOXA3	O43365	p.Gly338Asp	rs768312265	missense variant	-	NC_000007.14:g.27108234C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly338Ala	rs768312265	missense variant	-	NC_000007.14:g.27108234C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr339Asn	rs749547060	missense variant	-	NC_000007.14:g.27108231G>T	ExAC,gnomAD
HOXA3	O43365	p.Thr339Ile	rs749547060	missense variant	-	NC_000007.14:g.27108231G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro340Ala	rs1311738836	missense variant	-	NC_000007.14:g.27108229G>C	TOPMed
HOXA3	O43365	p.Pro340Arg	rs780381363	missense variant	-	NC_000007.14:g.27108228G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro344Leu	rs1217825036	missense variant	-	NC_000007.14:g.27108216G>A	TOPMed,gnomAD
HOXA3	O43365	p.His345Tyr	rs570052000	missense variant	-	NC_000007.14:g.27108214G>A	1000Genomes
HOXA3	O43365	p.His345Gln	rs1001112419	missense variant	-	NC_000007.14:g.27108212G>C	TOPMed,gnomAD
HOXA3	O43365	p.His345Gln	rs1001112419	missense variant	-	NC_000007.14:g.27108212G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ala346Ser	rs1286530524	missense variant	-	NC_000007.14:g.27108211C>A	gnomAD
HOXA3	O43365	p.His347Tyr	rs781409624	missense variant	-	NC_000007.14:g.27108208G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His347Arg	rs757849445	missense variant	-	NC_000007.14:g.27108207T>C	ExAC,gnomAD
HOXA3	O43365	p.His347Gln	rs1299213518	missense variant	-	NC_000007.14:g.27108206A>C	gnomAD
HOXA3	O43365	p.Gly348Ser	rs1402034451	missense variant	-	NC_000007.14:g.27108205C>T	gnomAD
HOXA3	O43365	p.Leu349Arg	rs778253017	missense variant	-	NC_000007.14:g.27108201A>C	ExAC,gnomAD
HOXA3	O43365	p.Gly351Val	rs1414443311	missense variant	-	NC_000007.14:g.27108195C>A	gnomAD
HOXA3	O43365	p.Asn352Lys	rs1164859943	missense variant	-	NC_000007.14:g.27108191G>T	gnomAD
HOXA3	O43365	p.Gly353Ser	rs867211343	missense variant	-	NC_000007.14:g.27108190C>T	TOPMed
HOXA3	O43365	p.Tyr355Cys	rs530214829	missense variant	-	NC_000007.14:g.27108183T>C	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.His359Asp	rs886301075	missense variant	-	NC_000007.14:g.27108172G>C	TOPMed
HOXA3	O43365	p.Ile360Val	rs1254158602	missense variant	-	NC_000007.14:g.27108169T>C	TOPMed
HOXA3	O43365	p.Ile360Thr	rs749999775	missense variant	-	NC_000007.14:g.27108168A>G	ExAC,gnomAD
HOXA3	O43365	p.Ile360Met	rs1214448909	missense variant	-	NC_000007.14:g.27108167T>C	gnomAD
HOXA3	O43365	p.Gln361Glu	rs1444149365	missense variant	-	NC_000007.14:g.27108166G>C	TOPMed
HOXA3	O43365	p.Gly362Arg	rs1188340147	missense variant	-	NC_000007.14:g.27108163C>T	TOPMed
HOXA3	O43365	p.Gly362Glu	rs200453383	missense variant	-	NC_000007.14:g.27108162C>T	1000Genomes,ExAC
HOXA3	O43365	p.Pro364Ala	rs763980001	missense variant	-	NC_000007.14:g.27108157G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val365Phe	rs775867530	missense variant	-	NC_000007.14:g.27108154C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val365Ile	rs775867530	missense variant	-	NC_000007.14:g.27108154C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val367Leu	rs1430317144	missense variant	-	NC_000007.14:g.27108148C>A	TOPMed
HOXA3	O43365	p.Gly368Ala	rs747577258	missense variant	-	NC_000007.14:g.27108144C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly368Trp	rs770893814	missense variant	-	NC_000007.14:g.27108145C>A	ExAC,gnomAD
HOXA3	O43365	p.Gly369Asp	rs1038727391	missense variant	-	NC_000007.14:g.27108141C>T	TOPMed
HOXA3	O43365	p.Gly369Cys	rs1300699662	missense variant	-	NC_000007.14:g.27108142C>A	gnomAD
HOXA3	O43365	p.Pro374Ser	rs778107219	missense variant	-	NC_000007.14:g.27108127G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Met375Leu	rs748456888	missense variant	-	NC_000007.14:g.27108124T>G	ExAC,gnomAD
HOXA3	O43365	p.Met375Val	rs748456888	missense variant	-	NC_000007.14:g.27108124T>C	ExAC,gnomAD
HOXA3	O43365	p.Met375Thr	rs111910536	missense variant	-	NC_000007.14:g.27108123A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser376Asn	rs148881843	missense variant	-	NC_000007.14:g.27108120C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn377Ser	rs370472758	missense variant	-	NC_000007.14:g.27108117T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly379Ala	rs1254705443	missense variant	-	NC_000007.14:g.27108111C>G	TOPMed
HOXA3	O43365	p.Pro380Ala	rs763878865	missense variant	-	NC_000007.14:g.27108109G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro380Leu	rs1218691568	missense variant	-	NC_000007.14:g.27108108G>A	gnomAD
HOXA3	O43365	p.Leu382Ile	rs762935434	missense variant	-	NC_000007.14:g.27108103G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly384Asp	rs1200920348	missense variant	-	NC_000007.14:g.27108096C>T	TOPMed,gnomAD
HOXA3	O43365	p.His387Asn	rs775493554	missense variant	-	NC_000007.14:g.27108088G>T	ExAC,gnomAD
HOXA3	O43365	p.Leu388Val	rs759888198	missense variant	-	NC_000007.14:g.27108085G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro389Leu	rs771076275	missense variant	-	NC_000007.14:g.27108081G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro389Ser	rs776948256	missense variant	-	NC_000007.14:g.27108082G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro389Arg	rs771076275	missense variant	-	NC_000007.14:g.27108081G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His390Leu	rs1370167466	missense variant	-	NC_000007.14:g.27108078T>A	gnomAD
HOXA3	O43365	p.His390Asn	rs746997972	missense variant	-	NC_000007.14:g.27108079G>T	ExAC,gnomAD
HOXA3	O43365	p.His390Asp	rs746997972	missense variant	-	NC_000007.14:g.27108079G>C	ExAC,gnomAD
HOXA3	O43365	p.Ser393Leu	rs773785595	missense variant	-	NC_000007.14:g.27108069G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly394Val	rs772517713	missense variant	-	NC_000007.14:g.27108066C>A	ExAC,gnomAD
HOXA3	O43365	p.Ala395Thr	rs374297287	missense variant	-	NC_000007.14:g.27108064C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala395Ser	rs374297287	missense variant	-	NC_000007.14:g.27108064C>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Met396Val	rs1426773608	missense variant	-	NC_000007.14:g.27108061T>C	gnomAD
HOXA3	O43365	p.Met396Arg	rs1188965898	missense variant	-	NC_000007.14:g.27108060A>C	gnomAD
HOXA3	O43365	p.Tyr398Asn	rs1453199220	missense variant	-	NC_000007.14:g.27108055A>T	TOPMed,gnomAD
HOXA3	O43365	p.Tyr398His	rs1453199220	missense variant	-	NC_000007.14:g.27108055A>G	TOPMed,gnomAD
HOXA3	O43365	p.Tyr398Cys	rs1387362776	missense variant	-	NC_000007.14:g.27108054T>C	TOPMed
HOXA3	O43365	p.Gly400Ala	rs1322075599	missense variant	-	NC_000007.14:g.27108048C>G	TOPMed
HOXA3	O43365	p.Gly400Ser	rs1455307732	missense variant	-	NC_000007.14:g.27108049C>T	TOPMed
HOXA3	O43365	p.Ala401Thr	rs1238246500	missense variant	-	NC_000007.14:g.27108046C>T	gnomAD
HOXA3	O43365	p.Ala401Ser	rs1238246500	missense variant	-	NC_000007.14:g.27108046C>A	gnomAD
HOXA3	O43365	p.Ala401Val	rs1181118542	missense variant	-	NC_000007.14:g.27108045G>A	gnomAD
HOXA3	O43365	p.Gly402Trp	rs1436225656	missense variant	-	NC_000007.14:g.27108043C>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro403Leu	rs745550334	missense variant	-	NC_000007.14:g.27108039G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Leu404Val	rs763656046	missense variant	-	NC_000007.14:g.27108037G>C	ExAC,gnomAD
HOXA3	O43365	p.Gly405Asp	rs1276689923	missense variant	-	NC_000007.14:g.27108033C>T	gnomAD
HOXA3	O43365	p.Ser406Gly	rs752660851	missense variant	-	NC_000007.14:g.27108031T>C	ExAC,gnomAD
HOXA3	O43365	p.Gly407Val	rs1045749988	missense variant	-	NC_000007.14:g.27108027C>A	gnomAD
HOXA3	O43365	p.Gly407Ala	rs1045749988	missense variant	-	NC_000007.14:g.27108027C>G	gnomAD
HOXA3	O43365	p.Gly407Cys	rs1311531547	missense variant	-	NC_000007.14:g.27108028C>A	gnomAD
HOXA3	O43365	p.Gly407Ser	rs1311531547	missense variant	-	NC_000007.14:g.27108028C>T	gnomAD
HOXA3	O43365	p.His409Arg	rs1297416759	missense variant	-	NC_000007.14:g.27108021T>C	gnomAD
HOXA3	O43365	p.His409Gln	rs375670849	missense variant	-	NC_000007.14:g.27108020G>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His410Asp	rs766458165	missense variant	-	NC_000007.14:g.27108019G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His410Asn	rs766458165	missense variant	-	NC_000007.14:g.27108019G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His410Arg	rs760941463	missense variant	-	NC_000007.14:g.27108018T>C	ExAC,gnomAD
HOXA3	O43365	p.His410Gln	rs773201682	missense variant	-	NC_000007.14:g.27108017G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly411Arg	rs772165466	missense variant	-	NC_000007.14:g.27108016C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro412Ser	rs762328098	missense variant	-	NC_000007.14:g.27108013G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro412Leu	rs545309894	missense variant	-	NC_000007.14:g.27108012G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly413Glu	rs1182815253	missense variant	-	NC_000007.14:g.27108009C>T	gnomAD
HOXA3	O43365	p.Gly415Arg	rs371131962	missense variant	-	NC_000007.14:g.27108004C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly415Val	rs749595911	missense variant	-	NC_000007.14:g.27108003C>A	ExAC,gnomAD
HOXA3	O43365	p.Glu416Lys	rs1265049115	missense variant	-	NC_000007.14:g.27108001C>T	TOPMed
HOXA3	O43365	p.Glu416Asp	rs780452042	missense variant	-	NC_000007.14:g.27107999C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro417Leu	rs770556616	missense variant	-	NC_000007.14:g.27107997G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro417Thr	rs1488723579	missense variant	-	NC_000007.14:g.27107998G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro417Ser	rs1488723579	missense variant	-	NC_000007.14:g.27107998G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro419His	rs576361734	missense variant	-	NC_000007.14:g.27107991G>T	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Thr420Ser	rs777199380	missense variant	-	NC_000007.14:g.27107988G>C	ExAC,gnomAD
HOXA3	O43365	p.Thr420Ile	rs777199380	missense variant	-	NC_000007.14:g.27107988G>A	ExAC,gnomAD
HOXA3	O43365	p.Tyr421Ter	rs534977529	stop gained	-	NC_000007.14:g.27107984G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr421Cys	rs757934192	missense variant	-	NC_000007.14:g.27107985T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr422Met	rs538585158	missense variant	-	NC_000007.14:g.27107982G>A	gnomAD
HOXA3	O43365	p.Asp423Glu	rs748997447	missense variant	-	NC_000007.14:g.27107978G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asp423Asn	rs371241609	missense variant	-	NC_000007.14:g.27107980C>T	ESP,TOPMed
HOXA3	O43365	p.Leu424Ile	rs766164161	missense variant	-	NC_000007.14:g.27107977G>T	ExAC,gnomAD
HOXA3	O43365	p.Thr425Ile	rs1450920595	missense variant	-	NC_000007.14:g.27107973G>A	gnomAD
HOXA3	O43365	p.Gly426Ser	rs1483717034	missense variant	-	NC_000007.14:g.27107971C>T	gnomAD
HOXA3	O43365	p.Gly426Ala	rs1166189290	missense variant	-	NC_000007.14:g.27107970C>G	gnomAD
HOXA3	O43365	p.His427Gln	rs750607456	missense variant	-	NC_000007.14:g.27107966G>C	ExAC,gnomAD
HOXA3	O43365	p.His428Pro	rs767612903	missense variant	-	NC_000007.14:g.27107964T>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His428Arg	rs767612903	missense variant	-	NC_000007.14:g.27107964T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro429Ser	rs1328693386	missense variant	-	NC_000007.14:g.27107962G>A	TOPMed
HOXA3	O43365	p.Ser430Phe	rs761812872	missense variant	-	NC_000007.14:g.27107958G>A	ExAC,gnomAD
HOXA3	O43365	p.Gln431Arg	rs1478285275	missense variant	-	NC_000007.14:g.27107955T>C	gnomAD
HOXA3	O43365	p.Gln431Leu	rs1478285275	missense variant	-	NC_000007.14:g.27107955T>A	gnomAD
HOXA3	O43365	p.Gly432Arg	rs1289116241	missense variant	-	NC_000007.14:g.27107953C>T	TOPMed
HOXA3	O43365	p.Glu436Gly	rs556513817	missense variant	-	NC_000007.14:g.27107940T>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala437Thr	rs769210162	missense variant	-	NC_000007.14:g.27107938C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala437Val	rs763446165	missense variant	-	NC_000007.14:g.27107937G>A	ExAC,gnomAD
HOXA3	O43365	p.Lys439Glu	rs775758892	missense variant	-	NC_000007.14:g.27107932T>C	ExAC,gnomAD
HOXA3	O43365	p.Lys439Thr	rs1291241613	missense variant	-	NC_000007.14:g.27107931T>G	gnomAD
HOXA3	O43365	p.Thr441Ile	rs770172796	missense variant	-	NC_000007.14:g.27107925G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr441Ser	rs770172796	missense variant	-	NC_000007.14:g.27107925G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His442Tyr	rs746664809	missense variant	-	NC_000007.14:g.27107923G>A	ExAC,gnomAD
HOXA3	O43365	p.Leu443Val	rs771716222	missense variant	-	NC_000007.14:g.27107920G>C	ExAC,gnomAD
HOXA3	O43365	p.Gln2His	rs977011633	missense variant	-	NC_000007.14:g.27110635T>G	TOPMed
HOXA3	O43365	p.Ala4Val	rs1326302466	missense variant	-	NC_000007.14:g.27110630G>A	gnomAD
HOXA3	O43365	p.Thr5Ile	rs767689192	missense variant	-	NC_000007.14:g.27110627G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr7Cys	rs757907805	missense variant	-	NC_000007.14:g.27110621T>C	ExAC,gnomAD
HOXA3	O43365	p.Ser10Leu	rs1300171872	missense variant	-	NC_000007.14:g.27110612G>A	gnomAD
HOXA3	O43365	p.Ala11Ser	rs1399554991	missense variant	-	NC_000007.14:g.27110610C>A	gnomAD
HOXA3	O43365	p.Ala11Val	rs1337485368	missense variant	-	NC_000007.14:g.27110609G>A	TOPMed,gnomAD
HOXA3	O43365	p.Ala11Glu	rs1337485368	missense variant	-	NC_000007.14:g.27110609G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ile12Phe	rs1020789194	missense variant	-	NC_000007.14:g.27110607T>A	TOPMed
HOXA3	O43365	p.Gly14Ser	rs765445228	missense variant	-	NC_000007.14:g.27110601C>T	gnomAD
HOXA3	O43365	p.Gly15Ser	rs752084362	missense variant	-	NC_000007.14:g.27110598C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro17Thr	rs763332746	missense variant	-	NC_000007.14:g.27110592G>T	ExAC,gnomAD
HOXA3	O43365	p.Pro17Ala	rs763332746	missense variant	-	NC_000007.14:g.27110592G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala20Pro	rs765991905	missense variant	-	NC_000007.14:g.27110583C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala20Val	rs1169731987	missense variant	-	NC_000007.14:g.27110582G>A	TOPMed,gnomAD
HOXA3	O43365	p.Ala21Asp	rs1236976167	missense variant	-	NC_000007.14:g.27110579G>T	gnomAD
HOXA3	O43365	p.Asn22Ser	rs1365636540	missense variant	-	NC_000007.14:g.27110576T>C	TOPMed
HOXA3	O43365	p.Gly23Arg	rs760117879	missense variant	-	NC_000007.14:g.27110574C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala25Ser	rs1424321019	missense variant	-	NC_000007.14:g.27110568C>A	gnomAD
HOXA3	O43365	p.Asn27Lys	rs771538813	missense variant	-	NC_000007.14:g.27110560A>C	ExAC,gnomAD
HOXA3	O43365	p.Asn29Ser	rs748131705	missense variant	-	NC_000007.14:g.27110555T>C	ExAC,gnomAD
HOXA3	O43365	p.Pro32Arg	rs1376465603	missense variant	-	NC_000007.14:g.27110546G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro32Thr	rs774223850	missense variant	-	NC_000007.14:g.27110547G>T	ExAC,gnomAD
HOXA3	O43365	p.Pro32Leu	rs1376465603	missense variant	-	NC_000007.14:g.27110546G>A	TOPMed,gnomAD
HOXA3	O43365	p.Tyr33Asn	rs1454687111	missense variant	-	NC_000007.14:g.27110544A>T	gnomAD
HOXA3	O43365	p.Pro34Gln	rs1448611789	missense variant	-	NC_000007.14:g.27110540G>T	TOPMed
HOXA3	O43365	p.Ala35Val	rs749040963	missense variant	-	NC_000007.14:g.27110537G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala37Val	rs746085776	missense variant	-	NC_000007.14:g.27110531G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala38Ser	rs1379341623	missense variant	-	NC_000007.14:g.27110529C>A	gnomAD
HOXA3	O43365	p.Ala41Gly	rs757393983	missense variant	-	NC_000007.14:g.27110519G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala41Thr	rs1183641928	missense variant	-	NC_000007.14:g.27110520C>T	gnomAD
HOXA3	O43365	p.Asp42Tyr	rs764656757	missense variant	-	NC_000007.14:g.27110517C>A	ExAC,gnomAD
HOXA3	O43365	p.Asp42Glu	rs758695156	missense variant	-	NC_000007.14:g.27110515G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asp42Asn	rs764656757	missense variant	-	NC_000007.14:g.27110517C>T	ExAC,gnomAD
HOXA3	O43365	p.Asp42Asn	rs764656757	missense variant	-	NC_000007.14:g.27110517C>T	UniProt,dbSNP
HOXA3	O43365	p.Asp42Asn	VAR_036264	missense variant	-	NC_000007.14:g.27110517C>T	UniProt
HOXA3	O43365	p.Gly43Ser	rs146381041	missense variant	-	NC_000007.14:g.27110514C>T	ESP,ExAC,gnomAD
HOXA3	O43365	p.Glu44Gln	rs905445520	missense variant	-	NC_000007.14:g.27110511C>G	TOPMed,gnomAD
HOXA3	O43365	p.Glu44Lys	rs905445520	missense variant	-	NC_000007.14:g.27110511C>T	TOPMed,gnomAD
HOXA3	O43365	p.His46Gln	rs373369365	missense variant	-	NC_000007.14:g.27110503G>T	ESP,ExAC,gnomAD
HOXA3	O43365	p.His46Arg	rs1353222884	missense variant	-	NC_000007.14:g.27110504T>C	gnomAD
HOXA3	O43365	p.Arg47Gln	rs760414819	missense variant	-	NC_000007.14:g.27110501C>T	ExAC,gnomAD
HOXA3	O43365	p.Arg47Ter	rs1248247321	stop gained	-	NC_000007.14:g.27110502G>A	gnomAD
HOXA3	O43365	p.Pro48Thr	rs1157184308	missense variant	-	NC_000007.14:g.27110499G>T	TOPMed
HOXA3	O43365	p.Pro48Leu	rs750054841	missense variant	-	NC_000007.14:g.27110498G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala49Val	rs761272954	missense variant	-	NC_000007.14:g.27110495G>A	ExAC,TOPMed
HOXA3	O43365	p.Ala49Thr	rs1362603166	missense variant	-	NC_000007.14:g.27110496C>T	gnomAD
HOXA3	O43365	p.Leu52Phe	rs1290374206	missense variant	-	NC_000007.14:g.27110487G>A	gnomAD
HOXA3	O43365	p.Pro55Leu	rs774271981	missense variant	-	NC_000007.14:g.27110477G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro55Ser	rs1010368098	missense variant	-	NC_000007.14:g.27110478G>A	gnomAD
HOXA3	O43365	p.Ser57Thr	rs762783980	missense variant	-	NC_000007.14:g.27110471C>G	ExAC,gnomAD
HOXA3	O43365	p.Ala58Val	rs769448301	missense variant	-	NC_000007.14:g.27110468G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala58Thr	rs78276647	missense variant	-	NC_000007.14:g.27110469C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala58Ser	rs78276647	missense variant	-	NC_000007.14:g.27110469C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly59Arg	rs746145258	missense variant	-	NC_000007.14:g.27110466C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly59Arg	rs746145258	missense variant	-	NC_000007.14:g.27110466C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly60Asp	rs1357576963	missense variant	-	NC_000007.14:g.27110462C>T	gnomAD
HOXA3	O43365	p.Gly60Cys	rs781519766	missense variant	-	NC_000007.14:g.27110463C>A	ExAC,gnomAD
HOXA3	O43365	p.Gly60Ser	rs781519766	missense variant	-	NC_000007.14:g.27110463C>T	ExAC,gnomAD
HOXA3	O43365	p.His61Tyr	rs1264893550	missense variant	-	NC_000007.14:g.27110460G>A	gnomAD
HOXA3	O43365	p.Lys63Asn	rs1215827508	missense variant	-	NC_000007.14:g.27110452C>G	TOPMed,gnomAD
HOXA3	O43365	p.Ala64Thr	rs1307976324	missense variant	-	NC_000007.14:g.27110451C>T	gnomAD
HOXA3	O43365	p.Glu66Lys	rs1297705629	missense variant	-	NC_000007.14:g.27110445C>T	gnomAD
HOXA3	O43365	p.Leu67Pro	rs747018825	missense variant	-	NC_000007.14:g.27110441A>G	ExAC,gnomAD
HOXA3	O43365	p.Ser68Cys	rs1303548549	missense variant	-	NC_000007.14:g.27110439T>A	gnomAD
HOXA3	O43365	p.Ser68Asn	rs1406341406	missense variant	-	NC_000007.14:g.27110438C>T	gnomAD
HOXA3	O43365	p.Cys71Trp	rs753110975	missense variant	-	NC_000007.14:g.27110428G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Cys71Ser	rs759004454	missense variant	-	NC_000007.14:g.27110429C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg73His	rs1202077053	missense variant	-	NC_000007.14:g.27110423C>T	gnomAD
HOXA3	O43365	p.Arg73Cys	rs779382325	missense variant	-	NC_000007.14:g.27110424G>A	ExAC,gnomAD
HOXA3	O43365	p.Leu75Val	rs755285275	missense variant	-	NC_000007.14:g.27110418G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala77Thr	rs1196439232	missense variant	-	NC_000007.14:g.27110412C>T	gnomAD
HOXA3	O43365	p.Ala77Val	rs750106752	missense variant	-	NC_000007.14:g.27110411G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro78Thr	rs900192762	missense variant	-	NC_000007.14:g.27110409G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro79Ala	rs761322128	missense variant	-	NC_000007.14:g.27110406G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro79Ser	rs761322128	missense variant	-	NC_000007.14:g.27110406G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro79Arg	rs1467089174	missense variant	-	NC_000007.14:g.27110405G>C	TOPMed
HOXA3	O43365	p.Ser80Gly	rs1214970882	missense variant	-	NC_000007.14:g.27110403T>C	TOPMed
HOXA3	O43365	p.Pro82Leu	rs1357808537	missense variant	-	NC_000007.14:g.27110396G>A	gnomAD
HOXA3	O43365	p.Pro83Ala	rs763505092	missense variant	-	NC_000007.14:g.27110394G>C	ExAC,gnomAD
HOXA3	O43365	p.Ser84Arg	rs762990429	missense variant	-	NC_000007.14:g.27110389G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Glu87Gly	rs563924162	missense variant	-	NC_000007.14:g.27110381T>C	1000Genomes,gnomAD
HOXA3	O43365	p.Glu87Lys	rs775268517	missense variant	-	NC_000007.14:g.27110382C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro88Gln	rs1038708524	missense variant	-	NC_000007.14:g.27110378G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro88Arg	rs1038708524	missense variant	-	NC_000007.14:g.27110378G>C	TOPMed,gnomAD
HOXA3	O43365	p.Leu90Met	rs769654378	missense variant	-	NC_000007.14:g.27110373G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His91Pro	rs1477274540	missense variant	-	NC_000007.14:g.27110369T>G	gnomAD
HOXA3	O43365	p.His91Gln	rs1377277486	missense variant	-	NC_000007.14:g.27110368G>T	gnomAD
HOXA3	O43365	p.Pro92Thr	rs1182712985	missense variant	-	NC_000007.14:g.27110367G>T	gnomAD
HOXA3	O43365	p.Pro92Ser	rs1182712985	missense variant	-	NC_000007.14:g.27110367G>A	gnomAD
HOXA3	O43365	p.Pro92Leu	rs1439787224	missense variant	-	NC_000007.14:g.27110366G>A	gnomAD
HOXA3	O43365	p.Pro94Leu	rs200842771	missense variant	-	NC_000007.14:g.27110360G>A	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Pro95Ala	rs777001617	missense variant	-	NC_000007.14:g.27110358G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro95Leu	rs1457237532	missense variant	-	NC_000007.14:g.27110357G>A	gnomAD
HOXA3	O43365	p.Gln96Pro	rs1399706028	missense variant	-	NC_000007.14:g.27110354T>G	TOPMed
HOXA3	O43365	p.Ala98Val	rs1331206506	missense variant	-	NC_000007.14:g.27110348G>A	TOPMed
HOXA3	O43365	p.Pro99Ser	rs1274034380	missense variant	-	NC_000007.14:g.27110346G>A	gnomAD
HOXA3	O43365	p.Pro99Leu	rs1337294972	missense variant	-	NC_000007.14:g.27110345G>A	TOPMed
HOXA3	O43365	p.Ala101Thr	rs1283416319	missense variant	-	NC_000007.14:g.27110340C>T	TOPMed
HOXA3	O43365	p.Pro104Gln	rs1273239422	missense variant	-	NC_000007.14:g.27110330G>T	TOPMed
HOXA3	O43365	p.Gln106Arg	rs1316838520	missense variant	-	NC_000007.14:g.27110324T>C	TOPMed
HOXA3	O43365	p.Pro107His	rs1306411661	missense variant	-	NC_000007.14:g.27110321G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ala108Ser	rs1187228858	missense variant	-	NC_000007.14:g.27110319C>A	TOPMed
HOXA3	O43365	p.Pro109Thr	rs1445457290	missense variant	-	NC_000007.14:g.27110316G>T	gnomAD
HOXA3	O43365	p.Pro109Leu	rs747224903	missense variant	-	NC_000007.14:g.27110315G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro111Leu	rs777978952	missense variant	-	NC_000007.14:g.27110309G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro111Arg	rs777978952	missense variant	-	NC_000007.14:g.27110309G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro111Ala	rs1255870498	missense variant	-	NC_000007.14:g.27110310G>C	TOPMed
HOXA3	O43365	p.Ala113Thr	rs1423004393	missense variant	-	NC_000007.14:g.27110304C>T	TOPMed
HOXA3	O43365	p.Pro114Ser	rs1159528797	missense variant	-	NC_000007.14:g.27110301G>A	gnomAD
HOXA3	O43365	p.Pro114Leu	rs976697190	missense variant	-	NC_000007.14:g.27110300G>A	TOPMed,gnomAD
HOXA3	O43365	p.Thr115Pro	rs530713477	missense variant	-	NC_000007.14:g.27110298T>G	1000Genomes,gnomAD
HOXA3	O43365	p.Pro116Ala	rs748707785	missense variant	-	NC_000007.14:g.27110295G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala117Val	rs1445374925	missense variant	-	NC_000007.14:g.27110291G>A	gnomAD
HOXA3	O43365	p.Ala118Val	rs1212072086	missense variant	-	NC_000007.14:g.27110288G>A	gnomAD
HOXA3	O43365	p.Ala118Gly	rs1212072086	missense variant	-	NC_000007.14:g.27110288G>C	gnomAD
HOXA3	O43365	p.Pro119Ser	rs1440644090	missense variant	-	NC_000007.14:g.27110286G>A	gnomAD
HOXA3	O43365	p.Pro120Ser	rs1333238267	missense variant	-	NC_000007.14:g.27110283G>A	TOPMed
HOXA3	O43365	p.Pro120Arg	rs1205537984	missense variant	-	NC_000007.14:g.27110282G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro120Leu	rs1205537984	missense variant	-	NC_000007.14:g.27110282G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro121Ser	rs780382886	missense variant	-	NC_000007.14:g.27110280G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro122Ala	rs751139252	missense variant	-	NC_000007.14:g.27110277G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro122Ser	rs751139252	missense variant	-	NC_000007.14:g.27110277G>A	ExAC,gnomAD
HOXA3	O43365	p.Ser126Phe	rs757799583	missense variant	-	NC_000007.14:g.27110264G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro127Ala	rs1340431719	missense variant	-	NC_000007.14:g.27110262G>C	gnomAD
HOXA3	O43365	p.Pro128Ser	rs141597317	missense variant	-	NC_000007.14:g.27110259G>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro128Leu	rs765017652	missense variant	-	NC_000007.14:g.27110258G>A	ExAC,gnomAD
HOXA3	O43365	p.Gln129Pro	rs759421760	missense variant	-	NC_000007.14:g.27110255T>G	ExAC
HOXA3	O43365	p.Ala131Thr	VAR_036265	Missense	-	-	UniProt
HOXA3	O43365	p.Ser132Gly	rs1020839960	missense variant	-	NC_000007.14:g.27110247T>C	TOPMed
HOXA3	O43365	p.Asn133Lys	rs987965306	missense variant	-	NC_000007.14:g.27110242G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro135Thr	rs148350002	missense variant	-	NC_000007.14:g.27110238G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro135Ser	rs148350002	missense variant	-	NC_000007.14:g.27110238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro135Ala	rs148350002	missense variant	-	NC_000007.14:g.27110238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro135Leu	rs761025094	missense variant	-	NC_000007.14:g.27110237G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala138Pro	rs772220854	missense variant	-	NC_000007.14:g.27110229C>G	ExAC,gnomAD
HOXA3	O43365	p.Ala138Val	rs748105640	missense variant	-	NC_000007.14:g.27110228G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala140Val	rs769208429	missense variant	-	NC_000007.14:g.27110222G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala140Glu	rs769208429	missense variant	-	NC_000007.14:g.27110222G>T	ExAC,gnomAD
HOXA3	O43365	p.Ser143Arg	rs1235437557	missense variant	-	NC_000007.14:g.27110212G>C	TOPMed,gnomAD
HOXA3	O43365	p.Pro144His	rs756450304	missense variant	-	NC_000007.14:g.27110210G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro144Leu	rs756450304	missense variant	-	NC_000007.14:g.27110210G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro144Arg	rs756450304	missense variant	-	NC_000007.14:g.27110210G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro144Ser	rs375062129	missense variant	-	NC_000007.14:g.27110211G>A	ExAC,gnomAD
HOXA3	O43365	p.Leu146Ile	rs1226155884	missense variant	-	NC_000007.14:g.27110205G>T	gnomAD
HOXA3	O43365	p.Leu146Phe	rs1226155884	missense variant	-	NC_000007.14:g.27110205G>A	gnomAD
HOXA3	O43365	p.Ser148Leu	rs757931038	missense variant	-	NC_000007.14:g.27110198G>A	ExAC,gnomAD
HOXA3	O43365	p.Ser148Ala	rs777252489	missense variant	-	NC_000007.14:g.27110199A>C	ExAC,gnomAD
HOXA3	O43365	p.Pro149Ser	rs1338817885	missense variant	-	NC_000007.14:g.27110196G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro149Ala	rs1338817885	missense variant	-	NC_000007.14:g.27110196G>C	TOPMed,gnomAD
HOXA3	O43365	p.Val151Gly	rs1297990052	missense variant	-	NC_000007.14:g.27110189A>C	gnomAD
HOXA3	O43365	p.Ala152Asp	rs764830639	missense variant	-	NC_000007.14:g.27110186G>T	ExAC,gnomAD
HOXA3	O43365	p.Gln154Lys	rs753798091	missense variant	-	NC_000007.14:g.27110181G>T	ExAC,gnomAD
HOXA3	O43365	p.Gln154Glu	rs753798091	missense variant	-	NC_000007.14:g.27110181G>C	ExAC,gnomAD
HOXA3	O43365	p.Gln164Lys	rs1313262966	missense variant	-	NC_000007.14:g.27110151G>T	TOPMed
HOXA3	O43365	p.Lys167Arg	rs760344417	missense variant	-	NC_000007.14:g.27110141T>C	ExAC
HOXA3	O43365	p.Thr170Ala	rs773484720	missense variant	-	NC_000007.14:g.27110133T>C	ExAC,gnomAD
HOXA3	O43365	p.Ser173Phe	rs767573569	missense variant	-	NC_000007.14:g.27110123G>A	ExAC,gnomAD
HOXA3	O43365	p.Glu177Lys	rs764182354	missense variant	-	NC_000007.14:g.27108718C>T	ExAC
HOXA3	O43365	p.Ser178Arg	rs762981763	missense variant	-	NC_000007.14:g.27108713G>C	ExAC,gnomAD
HOXA3	O43365	p.Cys179Gly	rs561303614	missense variant	-	NC_000007.14:g.27108712A>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly181Cys	rs541660334	missense variant	-	NC_000007.14:g.27108706C>A	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Asp182Tyr	rs1314381838	missense variant	-	NC_000007.14:g.27108703C>A	TOPMed,gnomAD
HOXA3	O43365	p.Asp182His	rs1314381838	missense variant	-	NC_000007.14:g.27108703C>G	TOPMed,gnomAD
HOXA3	O43365	p.Lys183Arg	rs760079612	missense variant	-	NC_000007.14:g.27108699T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Lys183Asn	rs201202337	missense variant	-	NC_000007.14:g.27108698C>G	TOPMed,gnomAD
HOXA3	O43365	p.Ser184Asn	rs776931367	missense variant	-	NC_000007.14:g.27108696C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro185Gln	rs909441206	missense variant	-	NC_000007.14:g.27108693G>T	gnomAD
HOXA3	O43365	p.Pro185Leu	rs909441206	missense variant	-	NC_000007.14:g.27108693G>A	gnomAD
HOXA3	O43365	p.Gly187Trp	rs747806694	missense variant	-	NC_000007.14:g.27108688C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly187Glu	rs778666410	missense variant	-	NC_000007.14:g.27108687C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gln188His	rs1470258466	missense variant	-	NC_000007.14:g.27108683C>G	gnomAD
HOXA3	O43365	p.Ala189Ser	rs374352147	missense variant	-	NC_000007.14:g.27108682C>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala189Pro	rs374352147	missense variant	-	NC_000007.14:g.27108682C>G	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser190Trp	rs144351903	missense variant	-	NC_000007.14:g.27108678G>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser191Phe	rs1432196398	missense variant	-	NC_000007.14:g.27108675G>A	gnomAD
HOXA3	O43365	p.Arg193Ser	rs1230280289	missense variant	-	NC_000007.14:g.27108670G>T	TOPMed
HOXA3	O43365	p.Ala194Val	rs149479622	missense variant	-	NC_000007.14:g.27108666G>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr196Met	rs1347019202	missense variant	-	NC_000007.14:g.27108660G>A	TOPMed
HOXA3	O43365	p.Thr199Ala	rs751813350	missense variant	-	NC_000007.14:g.27108652T>C	ExAC,gnomAD
HOXA3	O43365	p.Lys208Glu	rs765359429	missense variant	-	NC_000007.14:g.27108625T>C	ExAC,gnomAD
HOXA3	O43365	p.His211Leu	rs137977036	missense variant	-	NC_000007.14:g.27108615T>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His211Arg	rs137977036	missense variant	-	NC_000007.14:g.27108615T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn213His	rs777176111	missense variant	-	NC_000007.14:g.27108610T>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg214Ser	rs1394900092	missense variant	-	NC_000007.14:g.27108607G>T	TOPMed
HOXA3	O43365	p.Arg218Trp	rs771224832	missense variant	-	NC_000007.14:g.27108595G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro219Leu	rs1381290384	missense variant	-	NC_000007.14:g.27108591G>A	gnomAD
HOXA3	O43365	p.Pro219Gln	rs1381290384	missense variant	-	NC_000007.14:g.27108591G>T	gnomAD
HOXA3	O43365	p.Arg221Gln	rs1300835427	missense variant	-	NC_000007.14:g.27108585C>T	TOPMed,gnomAD
HOXA3	O43365	p.Arg221Leu	rs1300835427	missense variant	-	NC_000007.14:g.27108585C>A	TOPMed,gnomAD
HOXA3	O43365	p.Asn226Ser	rs774155973	missense variant	-	NC_000007.14:g.27108570T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn226Asp	rs146963463	missense variant	-	NC_000007.14:g.27108571T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn229Lys	rs1367593205	missense variant	-	NC_000007.14:g.27108560G>T	TOPMed
HOXA3	O43365	p.Leu230Phe	rs779749400	missense variant	-	NC_000007.14:g.27108559G>A	ExAC,gnomAD
HOXA3	O43365	p.Leu230Val	rs779749400	missense variant	-	NC_000007.14:g.27108559G>C	ExAC,gnomAD
HOXA3	O43365	p.Arg233His	rs1254744638	missense variant	-	NC_000007.14:g.27108549C>T	gnomAD
HOXA3	O43365	p.Gln234His	rs745812862	missense variant	-	NC_000007.14:g.27108545C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Lys236Arg	rs781146610	missense variant	-	NC_000007.14:g.27108540T>C	ExAC,gnomAD
HOXA3	O43365	p.Lys248Asn	rs1214652095	missense variant	-	NC_000007.14:g.27108503C>A	gnomAD
HOXA3	O43365	p.Asp249Tyr	rs757009297	missense variant	-	NC_000007.14:g.27108502C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asp249Val	rs1292541310	missense variant	-	NC_000007.14:g.27108501T>A	TOPMed,gnomAD
HOXA3	O43365	p.Lys251Arg	rs1214401950	missense variant	-	NC_000007.14:g.27108495T>C	TOPMed
HOXA3	O43365	p.Gly254Asp	rs777531613	missense variant	-	NC_000007.14:g.27108486C>T	ExAC,gnomAD
HOXA3	O43365	p.Met255Leu	rs758689645	missense variant	-	NC_000007.14:g.27108484T>G	ExAC,gnomAD
HOXA3	O43365	p.Leu256Pro	rs752889184	missense variant	-	NC_000007.14:g.27108480A>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr257Arg	rs1397701408	missense variant	-	NC_000007.14:g.27108477G>C	TOPMed,gnomAD
HOXA3	O43365	p.Thr257Lys	rs1397701408	missense variant	-	NC_000007.14:g.27108477G>T	TOPMed,gnomAD
HOXA3	O43365	p.Gly260Arg	rs761246075	missense variant	-	NC_000007.14:g.27108469C>G	ExAC,gnomAD
HOXA3	O43365	p.Gly260Glu	rs545349305	missense variant	-	NC_000007.14:g.27108468C>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly261Val	rs576449568	missense variant	-	NC_000007.14:g.27108465C>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly261Cys	rs1426166813	missense variant	-	NC_000007.14:g.27108466C>A	TOPMed,gnomAD
HOXA3	O43365	p.Gly261Asp	rs576449568	missense variant	-	NC_000007.14:g.27108465C>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser263Ala	rs769217500	missense variant	-	NC_000007.14:g.27108460A>C	ExAC,gnomAD
HOXA3	O43365	p.Ser265Thr	rs1269933015	missense variant	-	NC_000007.14:g.27108453C>G	gnomAD
HOXA3	O43365	p.Arg266His	rs745318781	missense variant	-	NC_000007.14:g.27108450C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Arg266Leu	rs745318781	missense variant	-	NC_000007.14:g.27108450C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val269Leu	rs201998676	missense variant	-	NC_000007.14:g.27108442C>G	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Val269Leu	rs201998676	missense variant	-	NC_000007.14:g.27108442C>A	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Pro270Thr	rs777588656	missense variant	-	NC_000007.14:g.27108439G>T	ExAC,gnomAD
HOXA3	O43365	p.Pro270His	rs141075773	missense variant	-	NC_000007.14:g.27108438G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro270Leu	rs141075773	missense variant	-	NC_000007.14:g.27108438G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro270Ser	rs777588656	missense variant	-	NC_000007.14:g.27108439G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro271Leu	rs779159425	missense variant	-	NC_000007.14:g.27108435G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly274Cys	rs1323878374	missense variant	-	NC_000007.14:g.27108427C>A	TOPMed,gnomAD
HOXA3	O43365	p.Gly275Asp	rs138670627	missense variant	-	NC_000007.14:g.27108423C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr276Ser	rs1333146981	missense variant	-	NC_000007.14:g.27108420T>G	TOPMed
HOXA3	O43365	p.Met280Val	rs375321122	missense variant	-	NC_000007.14:g.27108409T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Met280Lys	rs750944445	missense variant	-	NC_000007.14:g.27108408A>T	ExAC,gnomAD
HOXA3	O43365	p.His281Pro	rs1435463651	missense variant	-	NC_000007.14:g.27108405T>G	gnomAD
HOXA3	O43365	p.Leu283Pro	rs1477733468	missense variant	-	NC_000007.14:g.27108399A>G	TOPMed,gnomAD
HOXA3	O43365	p.Asn285Ser	rs762227101	missense variant	-	NC_000007.14:g.27108393T>C	ExAC,gnomAD
HOXA3	O43365	p.Pro288Leu	rs1208826265	missense variant	-	NC_000007.14:g.27108384G>A	TOPMed
HOXA3	O43365	p.Glu290Gln	rs1272072937	missense variant	-	NC_000007.14:g.27108379C>G	TOPMed
HOXA3	O43365	p.Glu290Gly	rs1266704911	missense variant	-	NC_000007.14:g.27108378T>C	gnomAD
HOXA3	O43365	p.Gln292Pro	rs759097377	missense variant	-	NC_000007.14:g.27108372T>G	ExAC,gnomAD
HOXA3	O43365	p.Gln292Arg	rs759097377	missense variant	-	NC_000007.14:g.27108372T>C	ExAC,gnomAD
HOXA3	O43365	p.Pro295Leu	rs1247697345	missense variant	-	NC_000007.14:g.27108363G>A	TOPMed
HOXA3	O43365	p.Phe297Ser	rs1470068161	missense variant	-	NC_000007.14:g.27108357A>G	TOPMed
HOXA3	O43365	p.Lys299Arg	rs1234899381	missense variant	-	NC_000007.14:g.27108351T>C	gnomAD
HOXA3	O43365	p.Pro300Ser	rs373966754	missense variant	-	NC_000007.14:g.27108349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Thr	rs373966754	missense variant	-	NC_000007.14:g.27108349G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Leu	rs150165110	missense variant	-	NC_000007.14:g.27108348G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300Arg	rs150165110	missense variant	-	NC_000007.14:g.27108348G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro300His	rs150165110	missense variant	-	NC_000007.14:g.27108348G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro301Leu	rs200545147	missense variant	-	NC_000007.14:g.27108345G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly303Ser	rs1407346769	missense variant	-	NC_000007.14:g.27108340C>T	TOPMed
HOXA3	O43365	p.Thr304Pro	rs565794030	missense variant	-	NC_000007.14:g.27108337T>G	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr304Ala	rs565794030	missense variant	-	NC_000007.14:g.27108337T>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr304Asn	rs750997164	missense variant	-	NC_000007.14:g.27108336G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr304Ser	rs750997164	missense variant	-	NC_000007.14:g.27108336G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr305Cys	rs1464701249	missense variant	-	NC_000007.14:g.27108333T>C	gnomAD
HOXA3	O43365	p.Pro308Leu	rs781736448	missense variant	-	NC_000007.14:g.27108324G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro308Ser	rs1441693252	missense variant	-	NC_000007.14:g.27108325G>A	gnomAD
HOXA3	O43365	p.Ala310Val	rs1306048165	missense variant	-	NC_000007.14:g.27108318G>A	TOPMed
HOXA3	O43365	p.Ala310Thr	rs552448449	missense variant	-	NC_000007.14:g.27108319C>T	1000Genomes,ExAC
HOXA3	O43365	p.Tyr312Cys	rs1437186333	missense variant	-	NC_000007.14:g.27108312T>C	gnomAD
HOXA3	O43365	p.Pro313Thr	rs1279020607	missense variant	-	NC_000007.14:g.27108310G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro313Leu	rs764361714	missense variant	-	NC_000007.14:g.27108309G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala314Gly	rs759274828	missense variant	-	NC_000007.14:g.27108306G>C	ExAC,gnomAD
HOXA3	O43365	p.Ala320Thr	rs1292187242	missense variant	-	NC_000007.14:g.27108289C>T	TOPMed
HOXA3	O43365	p.Pro321Ser	rs979280899	missense variant	-	NC_000007.14:g.27108286G>A	TOPMed
HOXA3	O43365	p.Pro322Arg	rs201711921	missense variant	-	NC_000007.14:g.27108282G>C	1000Genomes,TOPMed
HOXA3	O43365	p.Pro322Ser	rs1378393036	missense variant	-	NC_000007.14:g.27108283G>A	gnomAD
HOXA3	O43365	p.Pro322Leu	rs201711921	missense variant	-	NC_000007.14:g.27108282G>A	1000Genomes,TOPMed
HOXA3	O43365	p.Pro324Ser	rs1306476864	missense variant	-	NC_000007.14:g.27108277G>A	gnomAD
HOXA3	O43365	p.Pro325Thr	rs753413571	missense variant	-	NC_000007.14:g.27108274G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gln326Arg	rs1203455918	missense variant	-	NC_000007.14:g.27108270T>C	TOPMed
HOXA3	O43365	p.Arg328Gly	rs1336528766	missense variant	-	NC_000007.14:g.27108265G>C	TOPMed,gnomAD
HOXA3	O43365	p.Arg328Cys	rs1336528766	missense variant	-	NC_000007.14:g.27108265G>A	TOPMed,gnomAD
HOXA3	O43365	p.Thr330Ala	rs1483679216	missense variant	-	NC_000007.14:g.27108259T>C	TOPMed
HOXA3	O43365	p.Thr330Lys	rs760140639	missense variant	-	NC_000007.14:g.27108258G>T	ExAC,gnomAD
HOXA3	O43365	p.Ala331Thr	rs772052156	missense variant	-	NC_000007.14:g.27108256C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala331Glu	rs1421765421	missense variant	-	NC_000007.14:g.27108255G>T	gnomAD
HOXA3	O43365	p.Ala332Ser	rs1023423585	missense variant	-	NC_000007.14:g.27108253C>A	TOPMed
HOXA3	O43365	p.Gly333Arg	rs1366839347	missense variant	-	NC_000007.14:g.27108250C>T	TOPMed
HOXA3	O43365	p.Gly333Glu	rs1158154489	missense variant	-	NC_000007.14:g.27108249C>T	gnomAD
HOXA3	O43365	p.Gly337Arg	rs1014177801	missense variant	-	NC_000007.14:g.27108238C>T	TOPMed,gnomAD
HOXA3	O43365	p.Gly338Cys	rs774237769	missense variant	-	NC_000007.14:g.27108235C>A	ExAC,gnomAD
HOXA3	O43365	p.Gly338Val	rs768312265	missense variant	-	NC_000007.14:g.27108234C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly338Ala	rs768312265	missense variant	-	NC_000007.14:g.27108234C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly338Asp	rs768312265	missense variant	-	NC_000007.14:g.27108234C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr339Ile	rs749547060	missense variant	-	NC_000007.14:g.27108231G>A	ExAC,gnomAD
HOXA3	O43365	p.Thr339Asn	rs749547060	missense variant	-	NC_000007.14:g.27108231G>T	ExAC,gnomAD
HOXA3	O43365	p.Pro340Arg	rs780381363	missense variant	-	NC_000007.14:g.27108228G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro340Ala	rs1311738836	missense variant	-	NC_000007.14:g.27108229G>C	TOPMed
HOXA3	O43365	p.Pro344Leu	rs1217825036	missense variant	-	NC_000007.14:g.27108216G>A	TOPMed,gnomAD
HOXA3	O43365	p.His345Gln	rs1001112419	missense variant	-	NC_000007.14:g.27108212G>C	TOPMed,gnomAD
HOXA3	O43365	p.His345Tyr	rs570052000	missense variant	-	NC_000007.14:g.27108214G>A	1000Genomes
HOXA3	O43365	p.His345Gln	rs1001112419	missense variant	-	NC_000007.14:g.27108212G>T	TOPMed,gnomAD
HOXA3	O43365	p.Ala346Ser	rs1286530524	missense variant	-	NC_000007.14:g.27108211C>A	gnomAD
HOXA3	O43365	p.His347Tyr	rs781409624	missense variant	-	NC_000007.14:g.27108208G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His347Arg	rs757849445	missense variant	-	NC_000007.14:g.27108207T>C	ExAC,gnomAD
HOXA3	O43365	p.His347Gln	rs1299213518	missense variant	-	NC_000007.14:g.27108206A>C	gnomAD
HOXA3	O43365	p.Gly348Ser	rs1402034451	missense variant	-	NC_000007.14:g.27108205C>T	gnomAD
HOXA3	O43365	p.Leu349Arg	rs778253017	missense variant	-	NC_000007.14:g.27108201A>C	ExAC,gnomAD
HOXA3	O43365	p.Gly351Val	rs1414443311	missense variant	-	NC_000007.14:g.27108195C>A	gnomAD
HOXA3	O43365	p.Asn352Lys	rs1164859943	missense variant	-	NC_000007.14:g.27108191G>T	gnomAD
HOXA3	O43365	p.Gly353Ser	rs867211343	missense variant	-	NC_000007.14:g.27108190C>T	TOPMed
HOXA3	O43365	p.Tyr355Cys	rs530214829	missense variant	-	NC_000007.14:g.27108183T>C	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.His359Asp	rs886301075	missense variant	-	NC_000007.14:g.27108172G>C	TOPMed
HOXA3	O43365	p.Ile360Thr	rs749999775	missense variant	-	NC_000007.14:g.27108168A>G	ExAC,gnomAD
HOXA3	O43365	p.Ile360Met	rs1214448909	missense variant	-	NC_000007.14:g.27108167T>C	gnomAD
HOXA3	O43365	p.Ile360Val	rs1254158602	missense variant	-	NC_000007.14:g.27108169T>C	TOPMed
HOXA3	O43365	p.Gln361Glu	rs1444149365	missense variant	-	NC_000007.14:g.27108166G>C	TOPMed
HOXA3	O43365	p.Gly362Glu	rs200453383	missense variant	-	NC_000007.14:g.27108162C>T	1000Genomes,ExAC
HOXA3	O43365	p.Gly362Arg	rs1188340147	missense variant	-	NC_000007.14:g.27108163C>T	TOPMed
HOXA3	O43365	p.Pro364Ala	rs763980001	missense variant	-	NC_000007.14:g.27108157G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val365Ile	rs775867530	missense variant	-	NC_000007.14:g.27108154C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val365Phe	rs775867530	missense variant	-	NC_000007.14:g.27108154C>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Val367Leu	rs1430317144	missense variant	-	NC_000007.14:g.27108148C>A	TOPMed
HOXA3	O43365	p.Gly368Trp	rs770893814	missense variant	-	NC_000007.14:g.27108145C>A	ExAC,gnomAD
HOXA3	O43365	p.Gly368Ala	rs747577258	missense variant	-	NC_000007.14:g.27108144C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly369Cys	rs1300699662	missense variant	-	NC_000007.14:g.27108142C>A	gnomAD
HOXA3	O43365	p.Gly369Asp	rs1038727391	missense variant	-	NC_000007.14:g.27108141C>T	TOPMed
HOXA3	O43365	p.Pro374Ser	rs778107219	missense variant	-	NC_000007.14:g.27108127G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Met375Val	rs748456888	missense variant	-	NC_000007.14:g.27108124T>C	ExAC,gnomAD
HOXA3	O43365	p.Met375Leu	rs748456888	missense variant	-	NC_000007.14:g.27108124T>G	ExAC,gnomAD
HOXA3	O43365	p.Met375Thr	rs111910536	missense variant	-	NC_000007.14:g.27108123A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ser376Asn	rs148881843	missense variant	-	NC_000007.14:g.27108120C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Asn377Ser	rs370472758	missense variant	-	NC_000007.14:g.27108117T>C	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly379Ala	rs1254705443	missense variant	-	NC_000007.14:g.27108111C>G	TOPMed
HOXA3	O43365	p.Pro380Ala	rs763878865	missense variant	-	NC_000007.14:g.27108109G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro380Leu	rs1218691568	missense variant	-	NC_000007.14:g.27108108G>A	gnomAD
HOXA3	O43365	p.Leu382Ile	rs762935434	missense variant	-	NC_000007.14:g.27108103G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly384Asp	rs1200920348	missense variant	-	NC_000007.14:g.27108096C>T	TOPMed,gnomAD
HOXA3	O43365	p.His387Asn	rs775493554	missense variant	-	NC_000007.14:g.27108088G>T	ExAC,gnomAD
HOXA3	O43365	p.Leu388Val	rs759888198	missense variant	-	NC_000007.14:g.27108085G>C	ExAC,gnomAD
HOXA3	O43365	p.Pro389Arg	rs771076275	missense variant	-	NC_000007.14:g.27108081G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro389Ser	rs776948256	missense variant	-	NC_000007.14:g.27108082G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro389Leu	rs771076275	missense variant	-	NC_000007.14:g.27108081G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His390Asp	rs746997972	missense variant	-	NC_000007.14:g.27108079G>C	ExAC,gnomAD
HOXA3	O43365	p.His390Asn	rs746997972	missense variant	-	NC_000007.14:g.27108079G>T	ExAC,gnomAD
HOXA3	O43365	p.His390Leu	rs1370167466	missense variant	-	NC_000007.14:g.27108078T>A	gnomAD
HOXA3	O43365	p.Ser393Leu	rs773785595	missense variant	-	NC_000007.14:g.27108069G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly394Val	rs772517713	missense variant	-	NC_000007.14:g.27108066C>A	ExAC,gnomAD
HOXA3	O43365	p.Ala395Ser	rs374297287	missense variant	-	NC_000007.14:g.27108064C>A	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala395Thr	rs374297287	missense variant	-	NC_000007.14:g.27108064C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Met396Arg	rs1188965898	missense variant	-	NC_000007.14:g.27108060A>C	gnomAD
HOXA3	O43365	p.Met396Val	rs1426773608	missense variant	-	NC_000007.14:g.27108061T>C	gnomAD
HOXA3	O43365	p.Tyr398His	rs1453199220	missense variant	-	NC_000007.14:g.27108055A>G	TOPMed,gnomAD
HOXA3	O43365	p.Tyr398Cys	rs1387362776	missense variant	-	NC_000007.14:g.27108054T>C	TOPMed
HOXA3	O43365	p.Tyr398Asn	rs1453199220	missense variant	-	NC_000007.14:g.27108055A>T	TOPMed,gnomAD
HOXA3	O43365	p.Gly400Ser	rs1455307732	missense variant	-	NC_000007.14:g.27108049C>T	TOPMed
HOXA3	O43365	p.Gly400Ala	rs1322075599	missense variant	-	NC_000007.14:g.27108048C>G	TOPMed
HOXA3	O43365	p.Ala401Val	rs1181118542	missense variant	-	NC_000007.14:g.27108045G>A	gnomAD
HOXA3	O43365	p.Ala401Ser	rs1238246500	missense variant	-	NC_000007.14:g.27108046C>A	gnomAD
HOXA3	O43365	p.Ala401Thr	rs1238246500	missense variant	-	NC_000007.14:g.27108046C>T	gnomAD
HOXA3	O43365	p.Gly402Trp	rs1436225656	missense variant	-	NC_000007.14:g.27108043C>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro403Leu	rs745550334	missense variant	-	NC_000007.14:g.27108039G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Leu404Val	rs763656046	missense variant	-	NC_000007.14:g.27108037G>C	ExAC,gnomAD
HOXA3	O43365	p.Gly405Asp	rs1276689923	missense variant	-	NC_000007.14:g.27108033C>T	gnomAD
HOXA3	O43365	p.Ser406Gly	rs752660851	missense variant	-	NC_000007.14:g.27108031T>C	ExAC,gnomAD
HOXA3	O43365	p.Gly407Ser	rs1311531547	missense variant	-	NC_000007.14:g.27108028C>T	gnomAD
HOXA3	O43365	p.Gly407Cys	rs1311531547	missense variant	-	NC_000007.14:g.27108028C>A	gnomAD
HOXA3	O43365	p.Gly407Ala	rs1045749988	missense variant	-	NC_000007.14:g.27108027C>G	gnomAD
HOXA3	O43365	p.Gly407Val	rs1045749988	missense variant	-	NC_000007.14:g.27108027C>A	gnomAD
HOXA3	O43365	p.His409Gln	rs375670849	missense variant	-	NC_000007.14:g.27108020G>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His409Arg	rs1297416759	missense variant	-	NC_000007.14:g.27108021T>C	gnomAD
HOXA3	O43365	p.His410Gln	rs773201682	missense variant	-	NC_000007.14:g.27108017G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His410Arg	rs760941463	missense variant	-	NC_000007.14:g.27108018T>C	ExAC,gnomAD
HOXA3	O43365	p.His410Asp	rs766458165	missense variant	-	NC_000007.14:g.27108019G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His410Asn	rs766458165	missense variant	-	NC_000007.14:g.27108019G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly411Arg	rs772165466	missense variant	-	NC_000007.14:g.27108016C>T	ExAC,gnomAD
HOXA3	O43365	p.Pro412Ser	rs762328098	missense variant	-	NC_000007.14:g.27108013G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro412Leu	rs545309894	missense variant	-	NC_000007.14:g.27108012G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Gly413Glu	rs1182815253	missense variant	-	NC_000007.14:g.27108009C>T	gnomAD
HOXA3	O43365	p.Gly415Val	rs749595911	missense variant	-	NC_000007.14:g.27108003C>A	ExAC,gnomAD
HOXA3	O43365	p.Gly415Arg	rs371131962	missense variant	-	NC_000007.14:g.27108004C>T	ESP,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Glu416Asp	rs780452042	missense variant	-	NC_000007.14:g.27107999C>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Glu416Lys	rs1265049115	missense variant	-	NC_000007.14:g.27108001C>T	TOPMed
HOXA3	O43365	p.Pro417Leu	rs770556616	missense variant	-	NC_000007.14:g.27107997G>A	ExAC,gnomAD
HOXA3	O43365	p.Pro417Thr	rs1488723579	missense variant	-	NC_000007.14:g.27107998G>T	TOPMed,gnomAD
HOXA3	O43365	p.Pro417Ser	rs1488723579	missense variant	-	NC_000007.14:g.27107998G>A	TOPMed,gnomAD
HOXA3	O43365	p.Pro419His	rs576361734	missense variant	-	NC_000007.14:g.27107991G>T	1000Genomes,ExAC,gnomAD
HOXA3	O43365	p.Thr420Ile	rs777199380	missense variant	-	NC_000007.14:g.27107988G>A	ExAC,gnomAD
HOXA3	O43365	p.Thr420Ser	rs777199380	missense variant	-	NC_000007.14:g.27107988G>C	ExAC,gnomAD
HOXA3	O43365	p.Tyr421Ter	rs534977529	stop gained	-	NC_000007.14:g.27107984G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Tyr421Cys	rs757934192	missense variant	-	NC_000007.14:g.27107985T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr422Met	rs538585158	missense variant	-	NC_000007.14:g.27107982G>A	gnomAD
HOXA3	O43365	p.Asp423Asn	rs371241609	missense variant	-	NC_000007.14:g.27107980C>T	ESP,TOPMed
HOXA3	O43365	p.Asp423Glu	rs748997447	missense variant	-	NC_000007.14:g.27107978G>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Leu424Ile	rs766164161	missense variant	-	NC_000007.14:g.27107977G>T	ExAC,gnomAD
HOXA3	O43365	p.Thr425Ile	rs1450920595	missense variant	-	NC_000007.14:g.27107973G>A	gnomAD
HOXA3	O43365	p.Gly426Ser	rs1483717034	missense variant	-	NC_000007.14:g.27107971C>T	gnomAD
HOXA3	O43365	p.Gly426Ala	rs1166189290	missense variant	-	NC_000007.14:g.27107970C>G	gnomAD
HOXA3	O43365	p.His427Gln	rs750607456	missense variant	-	NC_000007.14:g.27107966G>C	ExAC,gnomAD
HOXA3	O43365	p.His428Arg	rs767612903	missense variant	-	NC_000007.14:g.27107964T>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His428Pro	rs767612903	missense variant	-	NC_000007.14:g.27107964T>G	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Pro429Ser	rs1328693386	missense variant	-	NC_000007.14:g.27107962G>A	TOPMed
HOXA3	O43365	p.Ser430Phe	rs761812872	missense variant	-	NC_000007.14:g.27107958G>A	ExAC,gnomAD
HOXA3	O43365	p.Gln431Leu	rs1478285275	missense variant	-	NC_000007.14:g.27107955T>A	gnomAD
HOXA3	O43365	p.Gln431Arg	rs1478285275	missense variant	-	NC_000007.14:g.27107955T>C	gnomAD
HOXA3	O43365	p.Gly432Arg	rs1289116241	missense variant	-	NC_000007.14:g.27107953C>T	TOPMed
HOXA3	O43365	p.Glu436Gly	rs556513817	missense variant	-	NC_000007.14:g.27107940T>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Ala437Val	rs763446165	missense variant	-	NC_000007.14:g.27107937G>A	ExAC,gnomAD
HOXA3	O43365	p.Ala437Thr	rs769210162	missense variant	-	NC_000007.14:g.27107938C>T	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Lys439Thr	rs1291241613	missense variant	-	NC_000007.14:g.27107931T>G	gnomAD
HOXA3	O43365	p.Lys439Glu	rs775758892	missense variant	-	NC_000007.14:g.27107932T>C	ExAC,gnomAD
HOXA3	O43365	p.Thr441Ser	rs770172796	missense variant	-	NC_000007.14:g.27107925G>C	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.Thr441Ile	rs770172796	missense variant	-	NC_000007.14:g.27107925G>A	ExAC,TOPMed,gnomAD
HOXA3	O43365	p.His442Tyr	rs746664809	missense variant	-	NC_000007.14:g.27107923G>A	ExAC,gnomAD
HOXA3	O43365	p.Leu443Val	rs771716222	missense variant	-	NC_000007.14:g.27107920G>C	ExAC,gnomAD
MGAM	O43451	p.Lys5Gln	rs1554452045	missense variant	-	NC_000007.14:g.142005543A>C	gnomAD
MGAM	O43451	p.Leu6Val	rs782042260	missense variant	-	NC_000007.14:g.142005546C>G	ExAC,gnomAD
MGAM	O43451	p.Lys8Gln	COSM3878809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142005552A>C	NCI-TCGA Cosmic
MGAM	O43451	p.Lys8Ile	rs782148481	missense variant	-	NC_000007.14:g.142005553A>T	ExAC,gnomAD
MGAM	O43451	p.Phe9Ile	COSM1448682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142005555T>A	NCI-TCGA Cosmic
MGAM	O43451	p.Phe9Tyr	rs1554452053	missense variant	-	NC_000007.14:g.142005556T>A	gnomAD
MGAM	O43451	p.Phe9LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142005555T>-	NCI-TCGA
MGAM	O43451	p.Phe9Tyr	rs1554452053	missense variant	-	NC_000007.14:g.142005556T>A	NCI-TCGA
MGAM	O43451	p.Thr10Ser	rs972193872	missense variant	-	NC_000007.14:g.142005559C>G	TOPMed
MGAM	O43451	p.Thr11Asn	rs1554452062	missense variant	-	NC_000007.14:g.142005562C>A	gnomAD
MGAM	O43451	p.Thr11Ala	rs1554452058	missense variant	-	NC_000007.14:g.142005561A>G	gnomAD
MGAM	O43451	p.Thr11Asn	rs1554452062	missense variant	-	NC_000007.14:g.142005562C>A	NCI-TCGA
MGAM	O43451	p.Glu13Gly	rs1554452067	missense variant	-	NC_000007.14:g.142005568A>G	gnomAD
MGAM	O43451	p.Ile14Phe	rs919382645	missense variant	-	NC_000007.14:g.142005570A>T	TOPMed
MGAM	O43451	p.Ile14Met	rs782787898	missense variant	-	NC_000007.14:g.142005572T>G	ExAC,gnomAD
MGAM	O43451	p.Ile14Val	rs919382645	missense variant	-	NC_000007.14:g.142005570A>G	TOPMed
MGAM	O43451	p.Val15Met	rs1554452070	missense variant	-	NC_000007.14:g.142005573G>A	gnomAD
MGAM	O43451	p.Val15Met	rs1554452070	missense variant	-	NC_000007.14:g.142005573G>A	NCI-TCGA
MGAM	O43451	p.Val18Ile	rs781847084	missense variant	-	NC_000007.14:g.142005582G>A	ExAC,TOPMed
MGAM	O43451	p.Leu19Ile	COSM461668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142005585C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Leu19Phe	rs782491643	missense variant	-	NC_000007.14:g.142005585C>T	ExAC,gnomAD
MGAM	O43451	p.Leu21Phe	rs1398823313	missense variant	-	NC_000007.14:g.142005591C>T	TOPMed
MGAM	O43451	p.Val22Met	rs1554452086	missense variant	-	NC_000007.14:g.142005594G>A	gnomAD
MGAM	O43451	p.Leu23Ter	rs1554452092	stop gained	-	NC_000007.14:g.142005598T>A	gnomAD
MGAM	O43451	p.Ile25Leu	rs61733478	missense variant	-	NC_000007.14:g.142005603A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile25Val	rs61733478	missense variant	-	NC_000007.14:g.142005603A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser27Asn	rs1167591977	missense variant	-	NC_000007.14:g.142005610G>A	TOPMed,gnomAD
MGAM	O43451	p.Ile28Val	rs1554452098	missense variant	-	NC_000007.14:g.142005612A>G	gnomAD
MGAM	O43451	p.Ile28Thr	rs201144916	missense variant	-	NC_000007.14:g.142005613T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu30Pro	rs1554452103	missense variant	-	NC_000007.14:g.142005619T>C	gnomAD
MGAM	O43451	p.Ile31Val	rs782681405	missense variant	-	NC_000007.14:g.142005621A>G	ExAC,gnomAD
MGAM	O43451	p.Val32Leu	rs1554452108	missense variant	-	NC_000007.14:g.142005624G>T	gnomAD
MGAM	O43451	p.Lys36Glu	rs782499547	missense variant	-	NC_000007.14:g.142005636A>G	ExAC,gnomAD
MGAM	O43451	p.Lys36Glu	rs782499547	missense variant	-	NC_000007.14:g.142005636A>G	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Ser38Thr	rs782627328	missense variant	-	NC_000007.14:g.142005642T>A	ExAC,gnomAD
MGAM	O43451	p.Leu39Val	rs782209727	missense variant	-	NC_000007.14:g.142005645C>G	ExAC,gnomAD
MGAM	O43451	p.Lys40Ile	rs782329352	missense variant	-	NC_000007.14:g.142005649A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser41Ter	rs1439042125	stop gained	-	NC_000007.14:g.142005652C>G	TOPMed
MGAM	O43451	p.Ala43Val	rs1554453211	missense variant	-	NC_000007.14:g.142008506C>T	gnomAD
MGAM	O43451	p.Pro46Ser	COSM4465151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142008514C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Thr48Ile	rs199885071	missense variant	-	NC_000007.14:g.142008521C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr48Arg	rs199885071	missense variant	-	NC_000007.14:g.142008521C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr49Ala	rs1554453220	missense variant	-	NC_000007.14:g.142008523A>G	gnomAD
MGAM	O43451	p.Gly50Ser	rs782372470	missense variant	-	NC_000007.14:g.142008526G>A	ExAC,gnomAD
MGAM	O43451	p.Gly50Val	rs1458554924	missense variant	-	NC_000007.14:g.142008527G>T	TOPMed,gnomAD
MGAM	O43451	p.Gly50Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008526G>T	NCI-TCGA
MGAM	O43451	p.Thr51Ile	rs1554453228	missense variant	-	NC_000007.14:g.142008530C>T	gnomAD
MGAM	O43451	p.Thr51Asn	rs1554453228	missense variant	-	NC_000007.14:g.142008530C>A	gnomAD
MGAM	O43451	p.Thr51Ile	rs1554453228	missense variant	-	NC_000007.14:g.142008530C>T	NCI-TCGA
MGAM	O43451	p.Pro52Thr	rs868912593	missense variant	-	NC_000007.14:g.142008532C>A	TOPMed
MGAM	O43451	p.Asp53His	rs1322962933	missense variant	-	NC_000007.14:g.142008535G>C	TOPMed
MGAM	O43451	p.Pro54Ala	rs1290003171	missense variant	-	NC_000007.14:g.142008538C>G	TOPMed
MGAM	O43451	p.Pro54Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008538C>A	NCI-TCGA
MGAM	O43451	p.Gly55Arg	rs1238905951	missense variant	-	NC_000007.14:g.142008541G>A	TOPMed
MGAM	O43451	p.Thr56Ile	rs931531509	missense variant	-	NC_000007.14:g.142008545C>T	TOPMed
MGAM	O43451	p.Thr57Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008548C>A	NCI-TCGA
MGAM	O43451	p.Gly58Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008551G>A	NCI-TCGA
MGAM	O43451	p.Thr59Pro	rs1291693920	missense variant	-	NC_000007.14:g.142008553A>C	TOPMed
MGAM	O43451	p.Pro60Leu	rs1554453251	missense variant	-	NC_000007.14:g.142008557C>T	gnomAD
MGAM	O43451	p.Pro60Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008557C>G	NCI-TCGA
MGAM	O43451	p.Asp61His	rs182921681	missense variant	-	NC_000007.14:g.142008559G>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Asp61Val	rs1554453252	missense variant	-	NC_000007.14:g.142008560A>T	gnomAD
MGAM	O43451	p.Pro62Leu	rs541807685	missense variant	-	NC_000007.14:g.142008563C>T	1000Genomes,ExAC
MGAM	O43451	p.Pro62Leu	rs541807685	missense variant	-	NC_000007.14:g.142008563C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Gly63Glu	rs781920229	missense variant	-	NC_000007.14:g.142008566G>A	ExAC,gnomAD
MGAM	O43451	p.Gly63Ter	rs201790349	stop gained	-	NC_000007.14:g.142008565G>T	1000Genomes
MGAM	O43451	p.Thr64Lys	rs782165691	missense variant	-	NC_000007.14:g.142008569C>A	ExAC,gnomAD
MGAM	O43451	p.Thr64Pro	rs1351649385	missense variant	-	NC_000007.14:g.142008568A>C	TOPMed,gnomAD
MGAM	O43451	p.Gly66Ser	rs569885905	missense variant	-	NC_000007.14:g.142008574G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr67Ile	rs1419269717	missense variant	-	NC_000007.14:g.142008578C>T	TOPMed,gnomAD
MGAM	O43451	p.Thr68Pro	rs1378707447	missense variant	-	NC_000007.14:g.142008580A>C	TOPMed
MGAM	O43451	p.His69Asn	rs571920896	missense variant	-	NC_000007.14:g.142008583C>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His69Arg	rs782733042	missense variant	-	NC_000007.14:g.142008584A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His69Asp	rs571920896	missense variant	-	NC_000007.14:g.142008583C>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala70Pro	rs1189940892	missense variant	-	NC_000007.14:g.142008586G>C	TOPMed
MGAM	O43451	p.Ala70Ser	rs1189940892	missense variant	-	NC_000007.14:g.142008586G>T	TOPMed
MGAM	O43451	p.Arg71Gly	rs1246724582	missense variant	-	NC_000007.14:g.142008589A>G	TOPMed
MGAM	O43451	p.Arg71Met	rs1554453288	missense variant	-	NC_000007.14:g.142008590G>T	gnomAD
MGAM	O43451	p.Thr72Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008593C>T	NCI-TCGA
MGAM	O43451	p.Thr73Met	rs201174904	missense variant	-	NC_000007.14:g.142008596C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly74Asp	rs781891982	missense variant	-	NC_000007.14:g.142008599G>A	ExAC,gnomAD
MGAM	O43451	p.Pro75Leu	rs1554453301	missense variant	-	NC_000007.14:g.142008602C>T	gnomAD
MGAM	O43451	p.Pro75Thr	rs200220205	missense variant	-	NC_000007.14:g.142008601C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro75Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008601C>T	NCI-TCGA
MGAM	O43451	p.Pro76Ser	rs369561557	missense variant	-	NC_000007.14:g.142008604C>T	ESP,TOPMed
MGAM	O43451	p.Pro76Gln	rs1554453306	missense variant	-	NC_000007.14:g.142008605C>A	gnomAD
MGAM	O43451	p.Asp77Gly	rs782638645	missense variant	-	NC_000007.14:g.142008608A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp77Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008609T>A	NCI-TCGA
MGAM	O43451	p.Pro78Ser	rs781834966	missense variant	-	NC_000007.14:g.142008610C>T	ExAC,gnomAD
MGAM	O43451	p.Pro78Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008610C>G	NCI-TCGA
MGAM	O43451	p.Gly82Asp	rs1554453315	missense variant	-	NC_000007.14:g.142008623G>A	gnomAD
MGAM	O43451	p.Thr83Asn	rs1220828400	missense variant	-	NC_000007.14:g.142008626C>A	TOPMed
MGAM	O43451	p.Thr84Ile	rs1554453321	missense variant	-	NC_000007.14:g.142008629C>T	gnomAD
MGAM	O43451	p.Pro85Ala	rs1554453330	missense variant	-	NC_000007.14:g.142008631C>G	gnomAD
MGAM	O43451	p.Val86Ala	rs373889066	missense variant	-	NC_000007.14:g.142008635T>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser87Phe	rs1554453338	missense variant	-	NC_000007.14:g.142008638C>T	gnomAD
MGAM	O43451	p.Ser87Phe	rs1554453338	missense variant	-	NC_000007.14:g.142008638C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ala88Val	rs142208150	missense variant	-	NC_000007.14:g.142008641C>T	1000Genomes
MGAM	O43451	p.Glu89Gly	rs1303770858	missense variant	-	NC_000007.14:g.142008644A>G	TOPMed,gnomAD
MGAM	O43451	p.Glu89Ala	rs1303770858	missense variant	-	NC_000007.14:g.142008644A>C	TOPMed,gnomAD
MGAM	O43451	p.Glu89Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142008643G>T	NCI-TCGA
MGAM	O43451	p.Glu89Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008645A>C	NCI-TCGA
MGAM	O43451	p.Cys90Ser	rs1358768865	missense variant	-	NC_000007.14:g.142008646T>A	TOPMed
MGAM	O43451	p.Pro91IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142008648_142008649insATTTA	NCI-TCGA
MGAM	O43451	p.Pro91LeuCysIleSerIleSer	NCI-TCGA novel	insertion	-	NC_000007.14:g.142008649_142008650insCTTTGTGTATCTCTATAT	NCI-TCGA
MGAM	O43451	p.Val92LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142008650_142008651insTTTGTGTATCTCT	NCI-TCGA
MGAM	O43451	p.Val93Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008655G>T	NCI-TCGA
MGAM	O43451	p.Asn94Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008658A>G	NCI-TCGA
MGAM	O43451	p.Glu95Ter	COSM1086369	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142008661G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Glu97Val	rs782260235	missense variant	-	NC_000007.14:g.142008668A>T	ExAC,gnomAD
MGAM	O43451	p.Arg98Ter	rs782363163	stop gained	-	NC_000007.14:g.142008670C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg98Gln	rs779098977	missense variant	-	NC_000007.14:g.142008671G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg98Gln	rs779098977	missense variant	-	NC_000007.14:g.142008671G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys101Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142008681C>A	NCI-TCGA
MGAM	O43451	p.Pro103Ser	rs1554453368	missense variant	-	NC_000007.14:g.142008685C>T	gnomAD
MGAM	O43451	p.Asp104Glu	rs782038080	missense variant	-	NC_000007.14:g.142008690C>A	ExAC,gnomAD
MGAM	O43451	p.Asp104Ala	rs1554453371	missense variant	-	NC_000007.14:g.142008689A>C	gnomAD
MGAM	O43451	p.Asp104Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008690C>G	NCI-TCGA
MGAM	O43451	p.Gln105Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142008691C>A	NCI-TCGA
MGAM	O43451	p.Pro106Leu	rs748580642	missense variant	-	NC_000007.14:g.142008695C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Pro106Leu	rs748580642	missense variant	-	NC_000007.14:g.142008695C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr108Ala	rs1554453383	missense variant	-	NC_000007.14:g.142008700A>G	gnomAD
MGAM	O43451	p.Lys109Glu	rs1554453387	missense variant	-	NC_000007.14:g.142008703A>G	gnomAD
MGAM	O43451	p.Lys109Glu	rs1554453387	missense variant	-	NC_000007.14:g.142008703A>G	NCI-TCGA Cosmic
MGAM	O43451	p.Ala110Ser	rs782768460	missense variant	-	NC_000007.14:g.142019199G>T	ExAC,gnomAD
MGAM	O43451	p.Ala110Thr	rs782768460	missense variant	-	NC_000007.14:g.142019199G>A	ExAC,gnomAD
MGAM	O43451	p.Thr111Ile	rs374528123	missense variant	-	NC_000007.14:g.142019203C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys112Tyr	COSM1548477	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019206G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Arg115Cys	rs782730354	missense variant	-	NC_000007.14:g.142019214C>T	ExAC,gnomAD
MGAM	O43451	p.Arg115Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142019214C>A	NCI-TCGA
MGAM	O43451	p.Arg115His	rs1554457449	missense variant	-	NC_000007.14:g.142019215G>A	gnomAD
MGAM	O43451	p.Arg115His	rs1554457449	missense variant	-	NC_000007.14:g.142019215G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly116Ser	rs782504315	missense variant	-	NC_000007.14:g.142019217G>A	TOPMed
MGAM	O43451	p.Cys117Arg	rs781792206	missense variant	-	NC_000007.14:g.142019220T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys117Tyr	rs782552577	missense variant	-	NC_000007.14:g.142019221G>A	ExAC,gnomAD
MGAM	O43451	p.Trp119Ter	rs1554457472	stop gained	-	NC_000007.14:g.142019228G>A	gnomAD
MGAM	O43451	p.Trp119Arg	rs376282334	missense variant	-	NC_000007.14:g.142019226T>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp119Ter	rs1554457472	stop gained	-	NC_000007.14:g.142019228G>A	NCI-TCGA
MGAM	O43451	p.Asn120Thr	rs576626552	missense variant	-	NC_000007.14:g.142019230A>C	gnomAD
MGAM	O43451	p.Asn120Ile	rs576626552	missense variant	-	NC_000007.14:g.142019230A>T	gnomAD
MGAM	O43451	p.Asn120Lys	rs1187691812	missense variant	-	NC_000007.14:g.142019231T>A	TOPMed
MGAM	O43451	p.Pro121Ser	COSM3922854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019232C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gly123Glu	rs1475463265	missense variant	-	NC_000007.14:g.142019239G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly123Glu	rs1475463265	missense variant	-	NC_000007.14:g.142019239G>A	TOPMed
MGAM	O43451	p.Val125Leu	rs782272356	missense variant	-	NC_000007.14:g.142019244G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val125Ile	rs782272356	missense variant	-	NC_000007.14:g.142019244G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val127Ala	rs782616300	missense variant	-	NC_000007.14:g.142019251T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val127Ile	rs782517449	missense variant	-	NC_000007.14:g.142019250G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val127Phe	rs782517449	missense variant	-	NC_000007.14:g.142019250G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val127Gly	rs782616300	missense variant	-	NC_000007.14:g.142019251T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro128Ser	rs1216348444	missense variant	-	NC_000007.14:g.142019253C>T	TOPMed
MGAM	O43451	p.Pro128Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142019254C>T	NCI-TCGA
MGAM	O43451	p.Trp129Arg	rs782204750	missense variant	-	NC_000007.14:g.142019256T>C	ExAC,gnomAD
MGAM	O43451	p.Cys130Tyr	COSM1086383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019260G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Tyr131Cys	rs1554457525	missense variant	-	NC_000007.14:g.142019263A>G	gnomAD
MGAM	O43451	p.Tyr131Asp	rs1362739572	missense variant	-	NC_000007.14:g.142019262T>G	TOPMed,gnomAD
MGAM	O43451	p.Tyr131His	rs1362739572	missense variant	-	NC_000007.14:g.142019262T>C	TOPMed,gnomAD
MGAM	O43451	p.Tyr131Ter	rs1314505018	stop gained	-	NC_000007.14:g.142019264C>A	TOPMed
MGAM	O43451	p.Tyr132Cys	rs1450690513	missense variant	-	NC_000007.14:g.142019266A>G	TOPMed
MGAM	O43451	p.Ser133Phe	COSM1548473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019269C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Lys134Asn	COSM1086386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142019273G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Lys134Arg	rs370701658	missense variant	-	NC_000007.14:g.142019272A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn135Ser	rs782291424	missense variant	-	NC_000007.14:g.142019275A>G	ExAC,gnomAD
MGAM	O43451	p.His136Arg	rs114936410	missense variant	-	NC_000007.14:g.142019278A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His139Tyr	rs1353207268	missense variant	-	NC_000007.14:g.142019286C>T	TOPMed,gnomAD
MGAM	O43451	p.Gly142Ser	rs368074859	missense variant	-	NC_000007.14:g.142019295G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly142Val	rs1384044094	missense variant	-	NC_000007.14:g.142019296G>T	TOPMed
MGAM	O43451	p.Gly142Asp	rs1384044094	missense variant	-	NC_000007.14:g.142019296G>A	TOPMed
MGAM	O43451	p.Leu144Pro	rs1554457576	missense variant	-	NC_000007.14:g.142019302T>C	gnomAD
MGAM	O43451	p.Val145Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142019305T>G	NCI-TCGA
MGAM	O43451	p.Thr147Ile	rs1554457581	missense variant	-	NC_000007.14:g.142019311C>T	gnomAD
MGAM	O43451	p.Asn148Lys	rs1554457583	missense variant	-	NC_000007.14:g.142019315T>G	gnomAD
MGAM	O43451	p.Ala149Val	rs781892890	missense variant	-	NC_000007.14:g.142019317C>T	ExAC,gnomAD
MGAM	O43451	p.Ala149Thr	rs782811489	missense variant	-	NC_000007.14:g.142019316G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly150Arg	rs782771834	missense variant	-	NC_000007.14:g.142019319G>C	ExAC,gnomAD
MGAM	O43451	p.Gly150Glu	rs1554458472	missense variant	-	NC_000007.14:g.142020974G>A	gnomAD
MGAM	O43451	p.Arg154Trp	rs191137461	missense variant	-	NC_000007.14:g.142020985C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg154PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142020982_142020998GCCCGGTTGAAAAATCT>-	NCI-TCGA
MGAM	O43451	p.Arg154Gln	rs200453166	missense variant	-	NC_000007.14:g.142020986G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn157Tyr	rs1554458479	missense variant	-	NC_000007.14:g.142020994A>T	gnomAD
MGAM	O43451	p.Pro162Arg	rs782294372	missense variant	-	NC_000007.14:g.142021010C>G	ExAC,gnomAD
MGAM	O43451	p.Val163Ala	rs369689890	missense variant	-	NC_000007.14:g.142021013T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly165Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142021019G>A	NCI-TCGA
MGAM	O43451	p.Ser166Gly	rs782250332	missense variant	-	NC_000007.14:g.142021021A>G	ExAC,gnomAD
MGAM	O43451	p.Asn167Ser	rs1474856078	missense variant	-	NC_000007.14:g.142021025A>G	TOPMed,gnomAD
MGAM	O43451	p.Val168Ile	rs782367862	missense variant	-	NC_000007.14:g.142021027G>A	ExAC,gnomAD
MGAM	O43451	p.Asp169Glu	rs781955537	missense variant	-	NC_000007.14:g.142021032C>A	ExAC,gnomAD
MGAM	O43451	p.Asn170Ser	rs782073483	missense variant	-	NC_000007.14:g.142021034A>G	ExAC,gnomAD
MGAM	O43451	p.Leu173Pro	rs782028908	missense variant	-	NC_000007.14:g.142021043T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr174Ile	rs1554458536	missense variant	-	NC_000007.14:g.142021046C>T	gnomAD
MGAM	O43451	p.Glu176Gln	rs782136193	missense variant	-	NC_000007.14:g.142021051G>C	ExAC,gnomAD
MGAM	O43451	p.Glu176Asp	rs782787435	missense variant	-	NC_000007.14:g.142021053A>C	ExAC,gnomAD
MGAM	O43451	p.Glu176Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142021051G>T	NCI-TCGA
MGAM	O43451	p.Gln178Ter	COSM4401411	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142021057C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gln178Arg	rs781983176	missense variant	-	NC_000007.14:g.142021058A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser180Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142021063T>A	NCI-TCGA
MGAM	O43451	p.Asn181Asp	rs201586821	missense variant	-	NC_000007.14:g.142021066A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg182Cys	rs146995745	missense variant	-	NC_000007.14:g.142021069C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg182His	rs781807541	missense variant	-	NC_000007.14:g.142021070G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His184Leu	rs782786733	missense variant	-	NC_000007.14:g.142021076A>T	ExAC,gnomAD
MGAM	O43451	p.Lys186Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142021083G>T	NCI-TCGA
MGAM	O43451	p.Thr188Pro	rs1554458824	missense variant	-	NC_000007.14:g.142021589A>C	gnomAD
MGAM	O43451	p.Asp189Asn	rs577101147	missense variant	-	NC_000007.14:g.142021592G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln190Glu	rs1554458828	missense variant	-	NC_000007.14:g.142021595C>G	gnomAD
MGAM	O43451	p.Asn192Ile	rs369486229	missense variant	-	NC_000007.14:g.142021602A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn192Thr	rs369486229	missense variant	-	NC_000007.14:g.142021602A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn193Ser	rs1554458839	missense variant	-	NC_000007.14:g.142021605A>G	gnomAD
MGAM	O43451	p.Glu200Lys	rs957482156	missense variant	-	NC_000007.14:g.142021625G>A	gnomAD
MGAM	O43451	p.Glu200Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142021625G>T	NCI-TCGA
MGAM	O43451	p.His201Gln	rs2272326	missense variant	-	NC_000007.14:g.142021630C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His201Arg	rs1392346006	missense variant	-	NC_000007.14:g.142021629A>G	TOPMed,gnomAD
MGAM	O43451	p.His201Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142021630C>G	NCI-TCGA
MGAM	O43451	p.Val202Met	rs368879552	missense variant	-	NC_000007.14:g.142021631G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val202Leu	rs368879552	missense variant	-	NC_000007.14:g.142021631G>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe205Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142021640T>C	NCI-TCGA
MGAM	O43451	p.Ser206Gly	rs782107962	missense variant	-	NC_000007.14:g.142021643A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser206Arg	rs782107962	missense variant	-	NC_000007.14:g.142021643A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly207Glu	COSM3922858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021647G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly207Ala	rs1273362632	missense variant	-	NC_000007.14:g.142021647G>C	TOPMed
MGAM	O43451	p.Gly207Arg	rs782342749	missense variant	-	NC_000007.14:g.142021646G>A	ExAC,gnomAD
MGAM	O43451	p.Ala209Pro	COSM3922862	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021652G>C	NCI-TCGA Cosmic
MGAM	O43451	p.Ala209Thr	rs1202521230	missense variant	-	NC_000007.14:g.142021652G>A	TOPMed
MGAM	O43451	p.Ala211Thr	rs574112628	missense variant	-	NC_000007.14:g.142021658G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala211Ser	rs574112628	missense variant	-	NC_000007.14:g.142021658G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser212Phe	COSM3634421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021662C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser212Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142021661T>G	NCI-TCGA
MGAM	O43451	p.Leu213Phe	COSM3778164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021666G>C	NCI-TCGA Cosmic
MGAM	O43451	p.Thr214Ala	rs1554458883	missense variant	-	NC_000007.14:g.142021667A>G	gnomAD
MGAM	O43451	p.Tyr215Cys	rs1554458891	missense variant	-	NC_000007.14:g.142021671A>G	gnomAD
MGAM	O43451	p.Tyr215Asp	rs1554458889	missense variant	-	NC_000007.14:g.142021670T>G	gnomAD
MGAM	O43451	p.Gln216Arg	rs1554458899	missense variant	-	NC_000007.14:g.142021674A>G	gnomAD
MGAM	O43451	p.Gln216Ter	rs782757681	stop gained	-	NC_000007.14:g.142021673C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln216Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142021673C>A	NCI-TCGA
MGAM	O43451	p.Val217Ala	rs1554458903	missense variant	-	NC_000007.14:g.142021677T>C	gnomAD
MGAM	O43451	p.Glu218Lys	rs202247797	missense variant	-	NC_000007.14:g.142021679G>A	gnomAD
MGAM	O43451	p.Ile219Leu	rs376468703	missense variant	-	NC_000007.14:g.142021682A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile219Thr	rs782477644	missense variant	-	NC_000007.14:g.142021683T>C	ExAC,gnomAD
MGAM	O43451	p.Arg221Gly	rs782576547	missense variant	-	NC_000007.14:g.142021688A>G	ExAC,gnomAD
MGAM	O43451	p.Gln222Glu	rs1554458908	missense variant	-	NC_000007.14:g.142021691C>G	gnomAD
MGAM	O43451	p.Ser225Thr	rs782529704	missense variant	-	NC_000007.14:g.142021701G>C	ExAC,gnomAD
MGAM	O43451	p.Val228Leu	COSM1086391	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021709G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Val228Ala	rs1554458912	missense variant	-	NC_000007.14:g.142021710T>C	gnomAD
MGAM	O43451	p.Arg230Lys	COSM4396354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021716G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Arg231Ser	rs370942363	missense variant	-	NC_000007.14:g.142021720A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg231Ile	rs183067128	missense variant	-	NC_000007.14:g.142021719G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn234Ser	COSM452481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142021728A>G	NCI-TCGA Cosmic
MGAM	O43451	p.Asn234Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142021728A>C	NCI-TCGA
MGAM	O43451	p.Arg235Cys	rs375177765	missense variant	-	NC_000007.14:g.142021730C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg235His	rs781819632	missense variant	-	NC_000007.14:g.142021731G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val236Ala	rs782790272	missense variant	-	NC_000007.14:g.142021734T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe238Leu	rs782396595	missense variant	-	NC_000007.14:g.142022269T>C	ExAC,gnomAD
MGAM	O43451	p.Asp239Gly	rs782651416	missense variant	-	NC_000007.14:g.142022273A>G	ExAC,gnomAD
MGAM	O43451	p.Ser240Leu	rs782236312	missense variant	-	NC_000007.14:g.142022276C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser241Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142022279G>A	NCI-TCGA
MGAM	O43451	p.Gly243Trp	COSM3922870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142022284G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gly243Glu	rs1158398826	missense variant	-	NC_000007.14:g.142022285G>A	TOPMed,gnomAD
MGAM	O43451	p.Pro244Arg	rs572139780	missense variant	-	NC_000007.14:g.142022288C>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Pro244His	rs572139780	missense variant	-	NC_000007.14:g.142022288C>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Pro244Leu	rs572139780	missense variant	-	NC_000007.14:g.142022288C>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Leu246Pro	rs374712168	missense variant	-	NC_000007.14:g.142022294T>C	ESP,ExAC,gnomAD
MGAM	O43451	p.Phe247Leu	rs1472287479	missense variant	-	NC_000007.14:g.142022296T>C	TOPMed
MGAM	O43451	p.Asp249Glu	rs368544175	missense variant	-	NC_000007.14:g.142022304C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp249Glu	rs368544175	missense variant	-	NC_000007.14:g.142022304C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln250His	rs782014529	missense variant	-	NC_000007.14:g.142022307G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe251Leu	rs1554459207	missense variant	-	NC_000007.14:g.142022310C>G	gnomAD
MGAM	O43451	p.Ser255Phe	rs201266519	missense variant	-	NC_000007.14:g.142022321C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg257Gln	rs782082021	missense variant	-	NC_000007.14:g.142022327G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg257Ter	rs781972778	stop gained	-	NC_000007.14:g.142022326C>T	ExAC,gnomAD
MGAM	O43451	p.Pro259His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142022333C>A	NCI-TCGA
MGAM	O43451	p.Ser260Arg	rs376595784	missense variant	-	NC_000007.14:g.142022337C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly265Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142022351G>A	NCI-TCGA
MGAM	O43451	p.Gly267Ter	COSM745315	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142022356G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gly267Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142022356G>A	NCI-TCGA
MGAM	O43451	p.Glu268Lys	rs1223926013	missense variant	-	NC_000007.14:g.142022359G>A	TOPMed
MGAM	O43451	p.His269Gln	rs782801521	missense variant	-	NC_000007.14:g.142022364T>A	ExAC,gnomAD
MGAM	O43451	p.His269Tyr	rs951729956	missense variant	-	NC_000007.14:g.142022362C>T	gnomAD
MGAM	O43451	p.Val270Ala	rs782505210	missense variant	-	NC_000007.14:g.142022366T>C	ExAC,gnomAD
MGAM	O43451	p.Gln272Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142022372A>T	NCI-TCGA
MGAM	O43451	p.Gln273His	rs782606103	missense variant	-	NC_000007.14:g.142022376G>T	ExAC,gnomAD
MGAM	O43451	p.Tyr274Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142022378A>G	NCI-TCGA
MGAM	O43451	p.Arg275Pro	rs1272804758	missense variant	-	NC_000007.14:g.142022381G>C	TOPMed,gnomAD
MGAM	O43451	p.Arg275Trp	rs372197743	missense variant	-	NC_000007.14:g.142022380C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg275Gln	rs1272804758	missense variant	-	NC_000007.14:g.142022381G>A	TOPMed,gnomAD
MGAM	O43451	p.Asp277His	rs782295291	missense variant	-	NC_000007.14:g.142022386G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp277Asn	rs782295291	missense variant	-	NC_000007.14:g.142022386G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp277Tyr	rs782295291	missense variant	-	NC_000007.14:g.142022386G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met278Val	rs1319801669	missense variant	-	NC_000007.14:g.142022389A>G	TOPMed
MGAM	O43451	p.MetAsnTrp278MetAsnTerIleUnk	rs782284375	stop gained	-	NC_000007.14:g.142022396_142022397insAATTG	ExAC,gnomAD
MGAM	O43451	p.Asn279Asp	rs369129473	missense variant	-	NC_000007.14:g.142022392A>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Lys281Arg	COSM71634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142022399A>G	NCI-TCGA Cosmic
MGAM	O43451	p.Lys281Glu	rs782405255	missense variant	-	NC_000007.14:g.142022398A>G	ExAC,gnomAD
MGAM	O43451	p.Trp283Cys	rs782225856	missense variant	-	NC_000007.14:g.142022406G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp283Arg	rs781988256	missense variant	-	NC_000007.14:g.142022404T>C	ExAC,gnomAD
MGAM	O43451	p.Trp283Ter	rs782225856	stop gained	-	NC_000007.14:g.142022406G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro284Leu	rs782344799	missense variant	-	NC_000007.14:g.142022408C>T	ExAC,gnomAD
MGAM	O43451	p.Pro284Thr	rs868934815	missense variant	-	NC_000007.14:g.142022407C>A	TOPMed,gnomAD
MGAM	O43451	p.Ile285Val	rs1419844317	missense variant	-	NC_000007.14:g.142022410A>G	TOPMed,gnomAD
MGAM	O43451	p.Ile285Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142022411T>C	NCI-TCGA
MGAM	O43451	p.Arg288Lys	COSM3634441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142022420G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asp289Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142022422G>T	NCI-TCGA
MGAM	O43451	p.Thr290Ala	rs1192034431	missense variant	-	NC_000007.14:g.142022425A>G	TOPMed
MGAM	O43451	p.Thr290Lys	rs782056080	missense variant	-	NC_000007.14:g.142022426C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr290Ile	rs782056080	missense variant	-	NC_000007.14:g.142022426C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr291Pro	rs1554459275	missense variant	-	NC_000007.14:g.142022428A>C	gnomAD
MGAM	O43451	p.Pro292Leu	rs1554459281	missense variant	-	NC_000007.14:g.142022432C>T	gnomAD
MGAM	O43451	p.Asn293Ser	rs782126641	missense variant	-	NC_000007.14:g.142022435A>G	ExAC,gnomAD
MGAM	O43451	p.Gly294Arg	COSM4394371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142022437G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asn295Ser	COSM3634445	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142025051A>G	NCI-TCGA Cosmic
MGAM	O43451	p.Asn295His	rs782337159	missense variant	-	NC_000007.14:g.142025050A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly296Glu	rs571907096	missense variant	-	NC_000007.14:g.142025054G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Gly296Arg	rs1554460346	missense variant	-	NC_000007.14:g.142025053G>A	gnomAD
MGAM	O43451	p.Asn298Asp	rs1554460351	missense variant	-	NC_000007.14:g.142025059A>G	gnomAD
MGAM	O43451	p.Leu299Val	rs1554460359	missense variant	-	NC_000007.14:g.142025062T>G	gnomAD
MGAM	O43451	p.Leu299Trp	rs1172867548	missense variant	-	NC_000007.14:g.142025063T>G	TOPMed
MGAM	O43451	p.Tyr300Cys	rs186400912	missense variant	-	NC_000007.14:g.142025066A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr300His	rs1554460367	missense variant	-	NC_000007.14:g.142025065T>C	gnomAD
MGAM	O43451	p.Tyr300Phe	rs186400912	missense variant	-	NC_000007.14:g.142025066A>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly301Ser	rs1375954722	missense variant	-	NC_000007.14:g.142025068G>A	TOPMed,gnomAD
MGAM	O43451	p.Ala302Val	rs201997667	missense variant	-	NC_000007.14:g.142025072C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala302Glu	rs201997667	missense variant	-	NC_000007.14:g.142025072C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln303Ter	rs1554460378	stop gained	-	NC_000007.14:g.142025074C>T	gnomAD
MGAM	O43451	p.Gln303Pro	rs1554460380	missense variant	-	NC_000007.14:g.142025075A>C	gnomAD
MGAM	O43451	p.Thr304Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142025078C>T	NCI-TCGA
MGAM	O43451	p.Phe305Leu	rs781906055	missense variant	-	NC_000007.14:g.142025082C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe305Cys	rs373438553	missense variant	-	NC_000007.14:g.142025081T>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe305Leu	rs781906055	missense variant	-	NC_000007.14:g.142025082C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe306Leu	rs1489436365	missense variant	-	NC_000007.14:g.142025083T>C	TOPMed
MGAM	O43451	p.Leu307Phe	rs1200335769	missense variant	-	NC_000007.14:g.142025088G>T	TOPMed,gnomAD
MGAM	O43451	p.Cys308Ser	rs1554460388	missense variant	-	NC_000007.14:g.142025090G>C	gnomAD
MGAM	O43451	p.Glu310Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142025095G>T	NCI-TCGA
MGAM	O43451	p.Asp311Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142025098G>T	NCI-TCGA
MGAM	O43451	p.Ser313Ile	COSM1086401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142025105G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser313Gly	rs782355667	missense variant	-	NC_000007.14:g.142025104A>G	ExAC,gnomAD
MGAM	O43451	p.Gly318Arg	rs782304559	missense variant	-	NC_000007.14:g.142025119G>A	ExAC,gnomAD
MGAM	O43451	p.Phe320Leu	rs782031017	missense variant	-	NC_000007.14:g.142025125T>C	ExAC,gnomAD
MGAM	O43451	p.Met322Lys	rs370542172	missense variant	-	NC_000007.14:g.142025132T>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Met322Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142025133G>A	NCI-TCGA
MGAM	O43451	p.Asn323Ser	rs527339185	missense variant	-	NC_000007.14:g.142025135A>G	ExAC,gnomAD
MGAM	O43451	p.Ser324Asn	rs781898633	missense variant	-	NC_000007.14:g.142025138G>A	ExAC,gnomAD
MGAM	O43451	p.Ser324Arg	rs942682815	missense variant	-	NC_000007.14:g.142025139C>A	gnomAD
MGAM	O43451	p.Asn325Asp	rs782718423	missense variant	-	NC_000007.14:g.142025140A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn325His	rs782718423	missense variant	-	NC_000007.14:g.142025140A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met327Ile	rs1401471656	missense variant	-	NC_000007.14:g.142025148G>A	TOPMed
MGAM	O43451	p.Met327Val	rs548853167	missense variant	-	NC_000007.14:g.142025146A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu328Asp	rs781786759	missense variant	-	NC_000007.14:g.142027116G>T	ExAC,gnomAD
MGAM	O43451	p.Val330Leu	rs1195346222	missense variant	-	NC_000007.14:g.142027120G>C	TOPMed,gnomAD
MGAM	O43451	p.Val330Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142027120G>T	NCI-TCGA
MGAM	O43451	p.Leu331Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142027123C>A	NCI-TCGA
MGAM	O43451	p.Ala334Ser	COSM6176402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027132G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ala334Val	rs782549716	missense variant	-	NC_000007.14:g.142027133C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro335Ser	rs1554461185	missense variant	-	NC_000007.14:g.142027135C>T	gnomAD
MGAM	O43451	p.Ile337Val	rs1554461188	missense variant	-	NC_000007.14:g.142027141A>G	gnomAD
MGAM	O43451	p.Thr338Pro	rs782495044	missense variant	-	NC_000007.14:g.142027144A>C	ExAC,gnomAD
MGAM	O43451	p.Thr338Ser	rs782495044	missense variant	-	NC_000007.14:g.142027144A>T	ExAC,gnomAD
MGAM	O43451	p.Thr338Ile	rs1359191634	missense variant	-	NC_000007.14:g.142027145C>T	TOPMed,gnomAD
MGAM	O43451	p.Tyr339His	rs1554461201	missense variant	-	NC_000007.14:g.142027147T>C	gnomAD
MGAM	O43451	p.Arg340Gly	rs199961575	missense variant	-	NC_000007.14:g.142027150C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg340His	rs782451986	missense variant	-	NC_000007.14:g.142027151G>A	ExAC,gnomAD
MGAM	O43451	p.Arg340Cys	rs199961575	missense variant	-	NC_000007.14:g.142027150C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile342Ser	rs200058369	missense variant	-	NC_000007.14:g.142027157T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile342Asn	rs200058369	missense variant	-	NC_000007.14:g.142027157T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile342Thr	rs200058369	missense variant	-	NC_000007.14:g.142027157T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly344Ser	rs782234699	missense variant	-	NC_000007.14:g.142027162G>A	ExAC,gnomAD
MGAM	O43451	p.Ile345Val	rs782330482	missense variant	-	NC_000007.14:g.142027165A>G	ExAC,gnomAD
MGAM	O43451	p.Asp347Asn	rs1554461237	missense variant	-	NC_000007.14:g.142027171G>A	gnomAD
MGAM	O43451	p.Asp347His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142027171G>C	NCI-TCGA
MGAM	O43451	p.Phe348Ser	rs1042240078	missense variant	-	NC_000007.14:g.142027175T>C	TOPMed
MGAM	O43451	p.Tyr349Cys	rs782041510	missense variant	-	NC_000007.14:g.142027178A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val350Met	rs782809881	missense variant	-	NC_000007.14:g.142027180G>A	ExAC,gnomAD
MGAM	O43451	p.Leu352Ter	rs1379655096	stop gained	-	NC_000007.14:g.142027187T>A	TOPMed
MGAM	O43451	p.Gly353Glu	COSM229079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027190G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Thr355Ala	rs1181164759	missense variant	-	NC_000007.14:g.142027195A>G	TOPMed,gnomAD
MGAM	O43451	p.Thr355Ser	rs1181164759	missense variant	-	NC_000007.14:g.142027195A>T	TOPMed,gnomAD
MGAM	O43451	p.Glu357Gly	rs1554461260	missense variant	-	NC_000007.14:g.142027202A>G	gnomAD
MGAM	O43451	p.Gln358Ter	rs372045141	stop gained	-	NC_000007.14:g.142027204C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln358Glu	rs372045141	missense variant	-	NC_000007.14:g.142027204C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln361Lys	rs1554461267	missense variant	-	NC_000007.14:g.142027213C>A	gnomAD
MGAM	O43451	p.Glu362Asp	rs782691640	missense variant	-	NC_000007.14:g.142027218A>C	ExAC,gnomAD
MGAM	O43451	p.Tyr363Cys	rs781905880	missense variant	-	NC_000007.14:g.142027220A>G	ExAC,gnomAD
MGAM	O43451	p.Glu365Ter	COSM6108869	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142027225G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Glu365Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142027227G>T	NCI-TCGA
MGAM	O43451	p.Ile367Thr	rs1415283659	missense variant	-	NC_000007.14:g.142027614T>C	TOPMed
MGAM	O43451	p.Gly368Arg	rs1554461418	missense variant	-	NC_000007.14:g.142027616G>C	gnomAD
MGAM	O43451	p.Arg369Gln	rs368035457	missense variant	-	NC_000007.14:g.142027620G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg369Trp	rs781873643	missense variant	-	NC_000007.14:g.142027619C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala371Thr	rs781833668	missense variant	-	NC_000007.14:g.142027625G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu372Phe	COSM3634456	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027628C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser374Pro	rs1554461429	missense variant	-	NC_000007.14:g.142027634T>C	gnomAD
MGAM	O43451	p.Tyr375Asn	COSM6108866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027637T>A	NCI-TCGA Cosmic
MGAM	O43451	p.Tyr375Cys	rs1244466223	missense variant	-	NC_000007.14:g.142027638A>G	TOPMed
MGAM	O43451	p.Trp376Arg	rs1554461435	missense variant	-	NC_000007.14:g.142027640T>A	gnomAD
MGAM	O43451	p.Ala377Val	rs189324698	missense variant	-	NC_000007.14:g.142027644C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala377Thr	rs782524066	missense variant	-	NC_000007.14:g.142027643G>A	ExAC,gnomAD
MGAM	O43451	p.Leu378Phe	COSM745309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027646C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gly379Ala	COSM4844808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142027650G>C	NCI-TCGA Cosmic
MGAM	O43451	p.Gly379Glu	rs191269779	missense variant	-	NC_000007.14:g.142027650G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly379Arg	rs558293494	missense variant	-	NC_000007.14:g.142027649G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His381Tyr	rs782565745	missense variant	-	NC_000007.14:g.142027655C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His381Arg	rs782183146	missense variant	-	NC_000007.14:g.142027656A>G	ExAC,gnomAD
MGAM	O43451	p.Leu382Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142027658C>T	NCI-TCGA
MGAM	O43451	p.Ser383Ile	rs374006036	missense variant	-	NC_000007.14:g.142027662G>T	ESP,TOPMed
MGAM	O43451	p.Arg384His	rs537674844	missense variant	-	NC_000007.14:g.142027665G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg384Cys	rs1243727908	missense variant	-	NC_000007.14:g.142027664C>T	TOPMed,gnomAD
MGAM	O43451	p.Glu386Lys	rs373200528	missense variant	-	NC_000007.14:g.142027670G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly388Arg	rs1335380765	missense variant	-	NC_000007.14:g.142027676G>A	TOPMed
MGAM	O43451	p.Thr389Ile	rs781964893	missense variant	-	NC_000007.14:g.142027680C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr389Asn	rs781964893	missense variant	-	NC_000007.14:g.142027680C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr389Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142027679A>T	NCI-TCGA
MGAM	O43451	p.Asp391Asn	rs184092742	missense variant	-	NC_000007.14:g.142027685G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp391Glu	rs766107711	missense variant	-	NC_000007.14:g.142027687C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn392Asp	rs781929078	missense variant	-	NC_000007.14:g.142027688A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn392Ser	rs200834950	missense variant	-	NC_000007.14:g.142027689A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met393Thr	rs782811856	missense variant	-	NC_000007.14:g.142027692T>C	ExAC,gnomAD
MGAM	O43451	p.Glu395Lys	rs371920898	missense variant	-	NC_000007.14:g.142027697G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val396Ile	rs1554461524	missense variant	-	NC_000007.14:g.142027700G>A	gnomAD
MGAM	O43451	p.Val397Met	rs377442966	missense variant	-	NC_000007.14:g.142027703G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu398Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142027708G>C	NCI-TCGA
MGAM	O43451	p.Arg401Gly	rs188481752	missense variant	-	NC_000007.14:g.142027715C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg401Cys	rs188481752	missense variant	-	NC_000007.14:g.142027715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg401Ser	rs188481752	missense variant	-	NC_000007.14:g.142027715C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg401His	rs782279108	missense variant	-	NC_000007.14:g.142027716G>A	ExAC,gnomAD
MGAM	O43451	p.Ala402Gly	rs374307676	missense variant	-	NC_000007.14:g.142027719C>G	ESP,ExAC,gnomAD
MGAM	O43451	p.Ala402Thr	rs371373847	missense variant	-	NC_000007.14:g.142027718G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala403Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142027721G>T	NCI-TCGA
MGAM	O43451	p.Gln404Pro	rs781930552	missense variant	-	NC_000007.14:g.142027725A>C	ExAC,gnomAD
MGAM	O43451	p.Gln404His	rs2272330	missense variant	-	NC_000007.14:g.142027726G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln404Ter	rs782335062	stop gained	-	NC_000007.14:g.142027724C>T	ExAC,gnomAD
MGAM	O43451	p.Leu405Phe	rs1277960803	missense variant	-	NC_000007.14:g.142027727C>T	TOPMed
MGAM	O43451	p.Leu405Pro	rs782427144	missense variant	-	NC_000007.14:g.142027728T>C	ExAC
MGAM	O43451	p.Tyr407Phe	rs1351388067	missense variant	-	NC_000007.14:g.142027734A>T	TOPMed
MGAM	O43451	p.Tyr407His	rs782139481	missense variant	-	NC_000007.14:g.142027733T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr407Asn	rs782139481	missense variant	-	NC_000007.14:g.142027733T>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val409Ile	COSM6176399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030365G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gln410His	COSM6108863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030370G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ala412Val	COSM3634462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030375C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Asp413Gly	rs1554462850	missense variant	-	NC_000007.14:g.142030378A>G	gnomAD
MGAM	O43451	p.Tyr416Cys	rs1554462854	missense variant	-	NC_000007.14:g.142030387A>G	gnomAD
MGAM	O43451	p.Met417Ile	rs782161428	missense variant	-	NC_000007.14:g.142030391G>A	ExAC,gnomAD
MGAM	O43451	p.Asp418Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030392G>A	NCI-TCGA
MGAM	O43451	p.Glu419Asp	COSM1086422	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030397G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Glu419Lys	rs567166329	missense variant	-	NC_000007.14:g.142030395G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Arg420Lys	COSM5406730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030399G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Arg420Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030399G>T	NCI-TCGA
MGAM	O43451	p.Arg421Lys	rs374898168	missense variant	-	NC_000007.14:g.142030402G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg421Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030402G>T	NCI-TCGA
MGAM	O43451	p.Asp422Gly	rs782114142	missense variant	-	NC_000007.14:g.142030405A>G	ExAC,gnomAD
MGAM	O43451	p.Phe423Ser	rs781818371	missense variant	-	NC_000007.14:g.142030408T>C	ExAC,gnomAD
MGAM	O43451	p.Asp426Asn	rs782056253	missense variant	-	NC_000007.14:g.142030416G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser427Pro	rs782698679	missense variant	-	NC_000007.14:g.142030419T>C	ExAC,gnomAD
MGAM	O43451	p.Asp429Asn	rs781908862	missense variant	-	NC_000007.14:g.142030425G>A	ExAC,gnomAD
MGAM	O43451	p.Phe430Cys	COSM1086426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030429T>G	NCI-TCGA Cosmic
MGAM	O43451	p.Gly432Ala	rs1371928155	missense variant	-	NC_000007.14:g.142030435G>C	TOPMed
MGAM	O43451	p.Phe433Leu	COSM3634465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030437T>C	NCI-TCGA Cosmic
MGAM	O43451	p.Glu435Lys	COSM3634468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030443G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu435Gly	rs1554462907	missense variant	-	NC_000007.14:g.142030444A>G	gnomAD
MGAM	O43451	p.Phe436Ile	rs1320168257	missense variant	-	NC_000007.14:g.142030446T>A	TOPMed,gnomAD
MGAM	O43451	p.Asn438Ser	rs1554462911	missense variant	-	NC_000007.14:g.142030453A>G	gnomAD
MGAM	O43451	p.Glu439Gln	rs782491222	missense variant	-	NC_000007.14:g.142030455G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu439Lys	rs782491222	missense variant	-	NC_000007.14:g.142030455G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu440Ter	rs782605775	stop gained	-	NC_000007.14:g.142030459T>G	ExAC,gnomAD
MGAM	O43451	p.Leu440Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030458T>G	NCI-TCGA
MGAM	O43451	p.His441Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030462A>G	NCI-TCGA
MGAM	O43451	p.Asn442Asp	rs782196345	missense variant	-	NC_000007.14:g.142030464A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn442Ile	rs782308686	missense variant	-	NC_000007.14:g.142030465A>T	ExAC,gnomAD
MGAM	O43451	p.Asn442Ser	rs782308686	missense variant	-	NC_000007.14:g.142030465A>G	ExAC,gnomAD
MGAM	O43451	p.Asn443Ser	rs1554462921	missense variant	-	NC_000007.14:g.142030468A>G	gnomAD
MGAM	O43451	p.Gly444Glu	rs1465965759	missense variant	-	NC_000007.14:g.142030471G>A	TOPMed
MGAM	O43451	p.Gln445Lys	rs782674701	missense variant	-	NC_000007.14:g.142030473C>A	ExAC,gnomAD
MGAM	O43451	p.Leu447Val	rs142037158	missense variant	-	NC_000007.14:g.142030479C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile450Thr	rs782372862	missense variant	-	NC_000007.14:g.142030489T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile450Val	rs782310137	missense variant	-	NC_000007.14:g.142030488A>G	gnomAD
MGAM	O43451	p.Ile450Leu	rs782310137	missense variant	-	NC_000007.14:g.142030488A>C	gnomAD
MGAM	O43451	p.Asp452Asn	rs782223084	missense variant	-	NC_000007.14:g.142030641G>A	ExAC,gnomAD
MGAM	O43451	p.Pro453Ser	COSM3634474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030644C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ala454Val	rs1373296368	missense variant	-	NC_000007.14:g.142030648C>T	TOPMed
MGAM	O43451	p.Ile455Thr	rs1421859270	missense variant	-	NC_000007.14:g.142030651T>C	TOPMed,gnomAD
MGAM	O43451	p.Ile455Ser	rs1421859270	missense variant	-	NC_000007.14:g.142030651T>G	TOPMed,gnomAD
MGAM	O43451	p.Ile455Val	rs782341305	missense variant	-	NC_000007.14:g.142030650A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn457Asp	rs1554463087	missense variant	-	NC_000007.14:g.142030656A>G	gnomAD
MGAM	O43451	p.Asn457Lys	rs782579825	missense variant	-	NC_000007.14:g.142030658C>G	ExAC,gnomAD
MGAM	O43451	p.Asn458Ser	rs1554463105	missense variant	-	NC_000007.14:g.142030660A>G	gnomAD
MGAM	O43451	p.Asn458Asp	rs1554463099	missense variant	-	NC_000007.14:g.142030659A>G	gnomAD
MGAM	O43451	p.Ser459Thr	rs782416042	missense variant	-	NC_000007.14:g.142030662T>A	ExAC,gnomAD
MGAM	O43451	p.Ser459Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030663C>G	NCI-TCGA
MGAM	O43451	p.Ser460Pro	rs1259477124	missense variant	-	NC_000007.14:g.142030665T>C	TOPMed
MGAM	O43451	p.Ser460Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030666C>T	NCI-TCGA
MGAM	O43451	p.Ser462Gly	rs76276410	missense variant	-	NC_000007.14:g.142030671A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro464Thr	rs782265176	missense variant	-	NC_000007.14:g.142030677C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro467Leu	rs781972911	missense variant	-	NC_000007.14:g.142030687C>T	ExAC,gnomAD
MGAM	O43451	p.Tyr468Cys	rs782088246	missense variant	-	NC_000007.14:g.142030690A>G	ExAC,gnomAD
MGAM	O43451	p.Asp469Asn	COSM3634477	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030692G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Arg470Lys	COSM4397861	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030696G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Arg470Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030696G>T	NCI-TCGA
MGAM	O43451	p.Gly471Ser	rs377157038	missense variant	-	NC_000007.14:g.142030698G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser472Ter	rs781922241	stop gained	-	NC_000007.14:g.142030702C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met474Val	rs1252121294	missense variant	-	NC_000007.14:g.142030707A>G	TOPMed
MGAM	O43451	p.Met474Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030708T>C	NCI-TCGA
MGAM	O43451	p.Met474Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030709G>A	NCI-TCGA
MGAM	O43451	p.Lys475Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030710A>G	NCI-TCGA
MGAM	O43451	p.Lys475Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030712G>T	NCI-TCGA
MGAM	O43451	p.Ile476Thr	rs1554463180	missense variant	-	NC_000007.14:g.142030714T>C	gnomAD
MGAM	O43451	p.Trp477Arg	rs1554463186	missense variant	-	NC_000007.14:g.142030716T>C	gnomAD
MGAM	O43451	p.Val478Met	rs1554463195	missense variant	-	NC_000007.14:g.142030719G>A	gnomAD
MGAM	O43451	p.Ser480Asn	rs782167847	missense variant	-	NC_000007.14:g.142030726G>A	ExAC,gnomAD
MGAM	O43451	p.Ser481Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142030729C>G	NCI-TCGA
MGAM	O43451	p.Asp482Asn	rs782768330	missense variant	-	NC_000007.14:g.142030731G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp482Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030733T>A	NCI-TCGA
MGAM	O43451	p.Pro486Leu	rs545222714	missense variant	-	NC_000007.14:g.142030744C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile488Phe	rs1554463224	missense variant	-	NC_000007.14:g.142030749A>T	gnomAD
MGAM	O43451	p.Ile488Thr	rs1295542195	missense variant	-	NC_000007.14:g.142030750T>C	TOPMed
MGAM	O43451	p.Gly489Val	COSM6176393	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142030753G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gly489Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030753G>A	NCI-TCGA
MGAM	O43451	p.Gly489Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142030752G>A	NCI-TCGA
MGAM	O43451	p.Val491Ile	rs781896542	missense variant	-	NC_000007.14:g.142031680G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val491Phe	rs781896542	missense variant	-	NC_000007.14:g.142031680G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro493His	rs1554463815	missense variant	-	NC_000007.14:g.142031687C>A	gnomAD
MGAM	O43451	p.Gly494Arg	rs1554463821	missense variant	-	NC_000007.14:g.142031689G>A	gnomAD
MGAM	O43451	p.Gly494Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142031690G>A	NCI-TCGA
MGAM	O43451	p.Thr496Ile	rs782531198	missense variant	-	NC_000007.14:g.142031696C>T	ExAC
MGAM	O43451	p.Val497Ala	rs781863603	missense variant	-	NC_000007.14:g.142031699T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro499Ser	COSM3634483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031704C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro499Ala	rs782494225	missense variant	-	NC_000007.14:g.142031704C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp500Tyr	COSM4936328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031707G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Tyr501Cys	rs782615480	missense variant	-	NC_000007.14:g.142031711A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr502Asn	rs782194727	missense variant	-	NC_000007.14:g.142031714C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro504Ser	COSM3634486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031719C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro504His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142031720C>A	NCI-TCGA
MGAM	O43451	p.Asn505Ser	rs552591544	missense variant	-	NC_000007.14:g.142031723A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Ala507Thr	rs782280924	missense variant	-	NC_000007.14:g.142031728G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp510Cys	rs1190098845	missense variant	-	NC_000007.14:g.142031739G>C	TOPMed,gnomAD
MGAM	O43451	p.Trp510Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142031738G>A	NCI-TCGA
MGAM	O43451	p.Trp510Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142031739G>A	NCI-TCGA
MGAM	O43451	p.Glu513Asp	rs1554463862	missense variant	-	NC_000007.14:g.142031748A>C	gnomAD
MGAM	O43451	p.Glu513Lys	rs782373494	missense variant	-	NC_000007.14:g.142031746G>A	ExAC,gnomAD
MGAM	O43451	p.Glu513Gly	rs1249964085	missense variant	-	NC_000007.14:g.142031747A>G	TOPMed
MGAM	O43451	p.Phe514Leu	COSM1086432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031751T>G	NCI-TCGA Cosmic
MGAM	O43451	p.Phe514Cys	rs782618035	missense variant	-	NC_000007.14:g.142031750T>G	ExAC,gnomAD
MGAM	O43451	p.Glu515Gln	COSM3778172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031752G>C	NCI-TCGA Cosmic
MGAM	O43451	p.Asn519Ser	rs570887648	missense variant	-	NC_000007.14:g.142031765A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn519His	rs1194279154	missense variant	-	NC_000007.14:g.142031764A>C	TOPMed
MGAM	O43451	p.Gln520Leu	COSM86798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142031768A>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gln520Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142031767C>A	NCI-TCGA
MGAM	O43451	p.Glu522Lys	rs1554463881	missense variant	-	NC_000007.14:g.142031773G>A	-
MGAM	O43451	p.Asp524Gly	rs1259100240	missense variant	-	NC_000007.14:g.142031780A>G	TOPMed
MGAM	O43451	p.Gly525Glu	rs1233061883	missense variant	-	NC_000007.14:g.142031783G>A	TOPMed
MGAM	O43451	p.Ile526Val	rs782319867	missense variant	-	NC_000007.14:g.142031785A>G	ExAC,gnomAD
MGAM	O43451	p.Trp527Gly	rs1554463889	missense variant	-	NC_000007.14:g.142031788T>G	gnomAD
MGAM	O43451	p.Trp527Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142031790G>A	NCI-TCGA
MGAM	O43451	p.Ile528Thr	rs1333251993	missense variant	-	NC_000007.14:g.142031792T>C	TOPMed
MGAM	O43451	p.Asp529Val	rs1554464296	missense variant	-	NC_000007.14:g.142032826A>T	gnomAD
MGAM	O43451	p.Asp529Glu	rs200532183	missense variant	-	NC_000007.14:g.142032827T>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met530Ile	COSM4901585	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142032830G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu532Lys	rs781979872	missense variant	-	NC_000007.14:g.142032834G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu532Ter	rs781979872	stop gained	-	NC_000007.14:g.142032834G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser534Phe	COSM3634498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142032841C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser534Cys	rs1554464305	missense variant	-	NC_000007.14:g.142032841C>G	gnomAD
MGAM	O43451	p.Asn535Thr	rs549897232	missense variant	-	NC_000007.14:g.142032844A>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Asp538Val	rs376876129	missense variant	-	NC_000007.14:g.142032853A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser540Leu	rs201161396	missense variant	-	NC_000007.14:g.142032859C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser542Leu	rs10266732	missense variant	-	NC_000007.14:g.142032865C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser542Leu	rs10266732	missense variant	-	NC_000007.14:g.142032865C>T	UniProt,dbSNP
MGAM	O43451	p.Ser542Leu	VAR_047351	missense variant	-	NC_000007.14:g.142032865C>T	UniProt
MGAM	O43451	p.Asn547Asp	rs1554464323	missense variant	-	NC_000007.14:g.142032879A>G	gnomAD
MGAM	O43451	p.Asn547Lys	rs1306671169	missense variant	-	NC_000007.14:g.142032881C>G	TOPMed,gnomAD
MGAM	O43451	p.Asn547Ser	rs782433642	missense variant	-	NC_000007.14:g.142032880A>G	ExAC,gnomAD
MGAM	O43451	p.Asn548Tyr	rs1554464332	missense variant	-	NC_000007.14:g.142032882A>T	gnomAD
MGAM	O43451	p.Pro553Leu	rs782679232	missense variant	-	NC_000007.14:g.142032898C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe554Val	rs1325048739	missense variant	-	NC_000007.14:g.142032900T>G	TOPMed
MGAM	O43451	p.Phe554IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142032893_142032894insC	NCI-TCGA
MGAM	O43451	p.Thr555Ser	rs1554464344	missense variant	-	NC_000007.14:g.142032904C>G	gnomAD
MGAM	O43451	p.Pro556His	rs1554464350	missense variant	-	NC_000007.14:g.142032907C>A	gnomAD
MGAM	O43451	p.Pro556Ser	rs1554464349	missense variant	-	NC_000007.14:g.142032906C>T	gnomAD
MGAM	O43451	p.Arg557Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142034262G>A	NCI-TCGA
MGAM	O43451	p.Leu559Pro	rs1554464937	missense variant	-	NC_000007.14:g.142034268T>C	gnomAD
MGAM	O43451	p.Asp560Asn	rs535382832	missense variant	-	NC_000007.14:g.142034270G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr562Asn	rs782145896	missense variant	-	NC_000007.14:g.142034276T>A	ExAC,gnomAD
MGAM	O43451	p.Cys565Tyr	rs782772053	missense variant	-	NC_000007.14:g.142034286G>A	ExAC,gnomAD
MGAM	O43451	p.Cys565Ter	rs1554464939	stop gained	-	NC_000007.14:g.142034287C>A	gnomAD
MGAM	O43451	p.Lys566Thr	rs1218334885	missense variant	-	NC_000007.14:g.142034289A>C	TOPMed,gnomAD
MGAM	O43451	p.Leu568Pro	rs782503061	missense variant	-	NC_000007.14:g.142034295T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu568Val	rs782167135	missense variant	-	NC_000007.14:g.142034294C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys569Tyr	rs782729423	missense variant	-	NC_000007.14:g.142034298G>A	ExAC,gnomAD
MGAM	O43451	p.Met570Arg	rs1554464956	missense variant	-	NC_000007.14:g.142034301T>G	gnomAD
MGAM	O43451	p.Asp571Gly	rs1554464957	missense variant	-	NC_000007.14:g.142034304A>G	gnomAD
MGAM	O43451	p.Ala572Thr	rs781808897	missense variant	-	NC_000007.14:g.142034306G>A	ExAC,gnomAD
MGAM	O43451	p.His575Pro	rs553850162	missense variant	-	NC_000007.14:g.142034316A>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.His575Arg	rs553850162	missense variant	-	NC_000007.14:g.142034316A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.His575Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142034315C>A	NCI-TCGA
MGAM	O43451	p.Trp576Ter	rs782684588	stop gained	-	NC_000007.14:g.142034320G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly577Cys	rs1263650229	missense variant	-	NC_000007.14:g.142034321G>T	TOPMed,gnomAD
MGAM	O43451	p.Gln579Glu	rs368127800	missense variant	-	NC_000007.14:g.142034327C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln579His	rs902260519	missense variant	-	NC_000007.14:g.142034329G>C	gnomAD
MGAM	O43451	p.Gln579Lys	rs368127800	missense variant	-	NC_000007.14:g.142034327C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp581Gly	rs1339922914	missense variant	-	NC_000007.14:g.142034334A>G	TOPMed
MGAM	O43451	p.Asp581Asn	rs1554464971	missense variant	-	NC_000007.14:g.142034333G>A	gnomAD
MGAM	O43451	p.Ile582Val	rs572766702	missense variant	-	NC_000007.14:g.142034336A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His583Pro	COSM4939100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034340A>C	NCI-TCGA Cosmic
MGAM	O43451	p.Asn584Ile	COSM1448697	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034343A>T	NCI-TCGA Cosmic
MGAM	O43451	p.Leu585Met	rs1554464979	missense variant	-	NC_000007.14:g.142034345C>A	gnomAD
MGAM	O43451	p.Tyr586Cys	rs1554464981	missense variant	-	NC_000007.14:g.142034349A>G	gnomAD
MGAM	O43451	p.Gly587Asp	rs782205661	missense variant	-	NC_000007.14:g.142034352G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser589Phe	rs1333868241	missense variant	-	NC_000007.14:g.142034358C>T	TOPMed,gnomAD
MGAM	O43451	p.Met590Val	rs782322543	missense variant	-	NC_000007.14:g.142034360A>G	ExAC,gnomAD
MGAM	O43451	p.Ala591Val	rs371945184	missense variant	-	NC_000007.14:g.142034364C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val592Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142034366G>A	NCI-TCGA
MGAM	O43451	p.Ala593Thr	rs183598889	missense variant	-	NC_000007.14:g.142034369G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala595Thr	rs543667858	missense variant	-	NC_000007.14:g.142034375G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala597Val	rs868919559	missense variant	-	NC_000007.14:g.142034672C>T	gnomAD
MGAM	O43451	p.Ala597Ser	rs1554465113	missense variant	-	NC_000007.14:g.142034671G>T	gnomAD
MGAM	O43451	p.Lys599Glu	rs782330752	missense variant	-	NC_000007.14:g.142034677A>G	ExAC,gnomAD
MGAM	O43451	p.Lys599Arg	rs1426103510	missense variant	-	NC_000007.14:g.142034678A>G	TOPMed,gnomAD
MGAM	O43451	p.Phe602Leu	rs1554465123	missense variant	-	NC_000007.14:g.142034688C>G	gnomAD
MGAM	O43451	p.Pro603Leu	rs1554465129	missense variant	-	NC_000007.14:g.142034690C>T	gnomAD
MGAM	O43451	p.Pro603Ser	rs868914154	missense variant	-	NC_000007.14:g.142034689C>T	-
MGAM	O43451	p.Asn604Ser	rs781927352	missense variant	-	NC_000007.14:g.142034693A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys605Glu	rs372853118	missense variant	-	NC_000007.14:g.142034695A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys605Arg	rs1554465132	missense variant	-	NC_000007.14:g.142034696A>G	gnomAD
MGAM	O43451	p.Lys605Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142034696A>C	NCI-TCGA
MGAM	O43451	p.Arg606Thr	COSM6108860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034699G>C	NCI-TCGA Cosmic
MGAM	O43451	p.Arg606Lys	COSM2861996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034699G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Arg606Gly	rs1409962588	missense variant	-	NC_000007.14:g.142034698A>G	TOPMed
MGAM	O43451	p.Ser607Asn	rs377214911	missense variant	-	NC_000007.14:g.142034702G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser607Arg	rs1177705843	missense variant	-	NC_000007.14:g.142034701A>C	TOPMed
MGAM	O43451	p.Ser607Thr	rs377214911	missense variant	-	NC_000007.14:g.142034702G>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe608Leu	rs1220376062	missense variant	-	NC_000007.14:g.142034704T>C	TOPMed
MGAM	O43451	p.Ile609Val	rs1490889499	missense variant	-	NC_000007.14:g.142034707A>G	TOPMed,gnomAD
MGAM	O43451	p.Thr611Ser	rs782002751	missense variant	-	NC_000007.14:g.142034713A>T	ExAC,gnomAD
MGAM	O43451	p.Arg612His	rs369813631	missense variant	-	NC_000007.14:g.142034717G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg612Cys	rs782122165	missense variant	-	NC_000007.14:g.142034716C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser613Phe	rs781807397	missense variant	-	NC_000007.14:g.142034720C>T	ExAC
MGAM	O43451	p.Ala616Val	rs372476876	missense variant	-	NC_000007.14:g.142034729C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala616Thr	rs547400304	missense variant	-	NC_000007.14:g.142034728G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala616Glu	rs372476876	missense variant	-	NC_000007.14:g.142034729C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly617Val	rs1554465173	missense variant	-	NC_000007.14:g.142034732G>T	gnomAD
MGAM	O43451	p.Ser618Pro	rs1367540562	missense variant	-	NC_000007.14:g.142034734T>C	TOPMed
MGAM	O43451	p.Phe621Leu	rs782618430	missense variant	-	NC_000007.14:g.142034745T>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala622Thr	rs1554465187	missense variant	-	NC_000007.14:g.142034746G>A	gnomAD
MGAM	O43451	p.Ala622Gly	rs1554465193	missense variant	-	NC_000007.14:g.142034747C>G	gnomAD
MGAM	O43451	p.His624Arg	rs551921132	missense variant	-	NC_000007.14:g.142034753A>G	ExAC,gnomAD
MGAM	O43451	p.His624Leu	rs551921132	missense variant	-	NC_000007.14:g.142034753A>T	ExAC,gnomAD
MGAM	O43451	p.Trp625Ter	rs1554465201	stop gained	-	NC_000007.14:g.142034756G>A	gnomAD
MGAM	O43451	p.Gly627Glu	COSM3634507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034762G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly627Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142034761G>T	NCI-TCGA
MGAM	O43451	p.Asp628Gly	rs539459227	missense variant	-	NC_000007.14:g.142034765A>G	1000Genomes
MGAM	O43451	p.Asp628Glu	rs1554465207	missense variant	-	NC_000007.14:g.142034766C>A	gnomAD
MGAM	O43451	p.Asn629Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142034768A>T	NCI-TCGA
MGAM	O43451	p.Asn629Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142034767A>T	NCI-TCGA
MGAM	O43451	p.Thr630Ser	rs1554465216	missense variant	-	NC_000007.14:g.142034771C>G	gnomAD
MGAM	O43451	p.Thr630Ala	rs1297184013	missense variant	-	NC_000007.14:g.142034770A>G	TOPMed,gnomAD
MGAM	O43451	p.Ala631Asp	rs782592725	missense variant	-	NC_000007.14:g.142034774C>A	ExAC,gnomAD
MGAM	O43451	p.Thr632Ala	rs782423007	missense variant	-	NC_000007.14:g.142034776A>G	ExAC,gnomAD
MGAM	O43451	p.Asp635Glu	rs782259332	missense variant	-	NC_000007.14:g.142034787C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp635Asn	rs782680949	missense variant	-	NC_000007.14:g.142034785G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp635Glu	rs782259332	missense variant	-	NC_000007.14:g.142034787C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp635Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142034785G>T	NCI-TCGA
MGAM	O43451	p.Leu636Met	rs373321374	missense variant	-	NC_000007.14:g.142034788C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg637Ser	rs190777514	missense variant	-	NC_000007.14:g.142034793A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp638Ter	rs782036029	stop gained	-	NC_000007.14:g.142034796G>A	ExAC,gnomAD
MGAM	O43451	p.Trp638Ser	rs201436141	missense variant	-	NC_000007.14:g.142034795G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser639Tyr	rs1554465246	missense variant	-	NC_000007.14:g.142034798C>A	gnomAD
MGAM	O43451	p.Ile640Val	rs782148818	missense variant	-	NC_000007.14:g.142034800A>G	ExAC,gnomAD
MGAM	O43451	p.Pro641Arg	rs782764005	missense variant	-	NC_000007.14:g.142034804C>G	ExAC,gnomAD
MGAM	O43451	p.Pro641Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142034803C>A	NCI-TCGA
MGAM	O43451	p.Gly642Ser	rs1201549873	missense variant	-	NC_000007.14:g.142034806G>A	TOPMed
MGAM	O43451	p.Val643Gly	rs1554465268	missense variant	-	NC_000007.14:g.142034810T>G	gnomAD
MGAM	O43451	p.Val643Met	rs200523868	missense variant	-	NC_000007.14:g.142034809G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu645Asp	rs782738646	missense variant	-	NC_000007.14:g.142034817G>T	ExAC,gnomAD
MGAM	O43451	p.Phe646Cys	rs1193215386	missense variant	-	NC_000007.14:g.142034819T>G	TOPMed
MGAM	O43451	p.Leu648Phe	COSM3634516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142034824C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro652Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142034836C>T	NCI-TCGA
MGAM	O43451	p.Met653Val	rs782440814	missense variant	-	NC_000007.14:g.142034839A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met653Thr	rs1554465292	missense variant	-	NC_000007.14:g.142034840T>C	gnomAD
MGAM	O43451	p.Val654Gly	rs782159903	missense variant	-	NC_000007.14:g.142036170T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro656Ser	rs1402922599	missense variant	-	NC_000007.14:g.142036175C>T	TOPMed
MGAM	O43451	p.Ile658Val	rs782787986	missense variant	-	NC_000007.14:g.142036181A>G	ExAC,gnomAD
MGAM	O43451	p.Cys659Tyr	rs374280812	missense variant	-	NC_000007.14:g.142036185G>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Gly660Ala	rs1554465738	missense variant	-	NC_000007.14:g.142036188G>C	TOPMed
MGAM	O43451	p.Gly660Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142036187G>T	NCI-TCGA
MGAM	O43451	p.Gly660Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142036188G>T	NCI-TCGA
MGAM	O43451	p.Leu663Ser	rs1554465744	missense variant	-	NC_000007.14:g.142036197T>C	gnomAD
MGAM	O43451	p.Asp664Asn	COSM3634519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036199G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Thr665Asn	rs1460617216	missense variant	-	NC_000007.14:g.142036203C>A	TOPMed,gnomAD
MGAM	O43451	p.Pro666Leu	COSM3634522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036206C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro666Thr	rs781810423	missense variant	-	NC_000007.14:g.142036205C>A	ExAC,gnomAD
MGAM	O43451	p.Pro666Ala	rs781810423	missense variant	-	NC_000007.14:g.142036205C>G	ExAC,gnomAD
MGAM	O43451	p.Pro666His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142036206C>A	NCI-TCGA
MGAM	O43451	p.Glu668Gln	rs906124194	missense variant	-	NC_000007.14:g.142036211G>C	TOPMed
MGAM	O43451	p.Cys670Ser	rs1444380400	missense variant	-	NC_000007.14:g.142036218G>C	TOPMed,gnomAD
MGAM	O43451	p.Cys670Tyr	rs1444380400	missense variant	-	NC_000007.14:g.142036218G>A	TOPMed,gnomAD
MGAM	O43451	p.Arg671Gly	rs1554465759	missense variant	-	NC_000007.14:g.142036220A>G	gnomAD
MGAM	O43451	p.Arg671Met	rs370644495	missense variant	-	NC_000007.14:g.142036221G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg672Trp	rs374646574	missense variant	-	NC_000007.14:g.142036223C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg672Gln	rs782608917	missense variant	-	NC_000007.14:g.142036224G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met674Thr	rs1554465769	missense variant	-	NC_000007.14:g.142036230T>C	gnomAD
MGAM	O43451	p.Met674Leu	rs1193602312	missense variant	-	NC_000007.14:g.142036229A>T	TOPMed
MGAM	O43451	p.Gln675Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142036232C>T	NCI-TCGA
MGAM	O43451	p.Leu676Ser	rs1481351168	missense variant	-	NC_000007.14:g.142036236T>C	TOPMed
MGAM	O43451	p.Gly677Arg	rs1554465773	missense variant	-	NC_000007.14:g.142036238G>C	gnomAD
MGAM	O43451	p.Tyr680Phe	rs367841743	missense variant	-	NC_000007.14:g.142036248A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr680Cys	rs367841743	missense variant	-	NC_000007.14:g.142036248A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro681Leu	rs782316099	missense variant	-	NC_000007.14:g.142036251C>T	ExAC,gnomAD
MGAM	O43451	p.Pro681Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142036250C>T	NCI-TCGA
MGAM	O43451	p.Phe682Leu	rs1554465781	missense variant	-	NC_000007.14:g.142036253T>C	gnomAD
MGAM	O43451	p.Ser683Thr	rs1554465785	missense variant	-	NC_000007.14:g.142036256T>A	gnomAD
MGAM	O43451	p.Ser683Phe	rs782294701	missense variant	-	NC_000007.14:g.142036257C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His686Tyr	COSM4895457	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036265C>T	NCI-TCGA Cosmic
MGAM	O43451	p.His686Arg	rs782009801	missense variant	-	NC_000007.14:g.142036266A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His686Asp	rs782411551	missense variant	-	NC_000007.14:g.142036265C>G	ExAC,gnomAD
MGAM	O43451	p.His686Asn	rs782411551	missense variant	-	NC_000007.14:g.142036265C>A	ExAC,gnomAD
MGAM	O43451	p.Asn687Ser	rs374754723	missense variant	-	NC_000007.14:g.142036269A>G	ESP,TOPMed
MGAM	O43451	p.Gln689Ter	rs1554465805	stop gained	-	NC_000007.14:g.142036274C>T	gnomAD
MGAM	O43451	p.Gly690Ser	rs1554465807	missense variant	-	NC_000007.14:g.142036277G>A	gnomAD
MGAM	O43451	p.Tyr691Cys	rs1554465808	missense variant	-	NC_000007.14:g.142036281A>G	gnomAD
MGAM	O43451	p.Lys692Arg	rs1554465812	missense variant	-	NC_000007.14:g.142036284A>G	gnomAD
MGAM	O43451	p.Asp693Asn	COSM3736676	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036823G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gln694His	rs1554466069	missense variant	-	NC_000007.14:g.142036828G>T	gnomAD
MGAM	O43451	p.Gln694Arg	rs1554466065	missense variant	-	NC_000007.14:g.142036827A>G	gnomAD
MGAM	O43451	p.Gln694Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142036826C>A	NCI-TCGA
MGAM	O43451	p.Asp695Asn	COSM4895790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036829G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Pro696Ser	rs1554466078	missense variant	-	NC_000007.14:g.142036832C>T	gnomAD
MGAM	O43451	p.Ala697Thr	rs1554466082	missense variant	-	NC_000007.14:g.142036835G>A	gnomAD
MGAM	O43451	p.Ala697Val	rs782329716	missense variant	-	NC_000007.14:g.142036836C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala697Asp	rs782329716	missense variant	-	NC_000007.14:g.142036836C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe699Ser	COSM3878831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036842T>C	NCI-TCGA Cosmic
MGAM	O43451	p.Phe699Leu	rs74975727	missense variant	-	NC_000007.14:g.142036843T>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala701Val	rs142123491	missense variant	-	NC_000007.14:g.142036848C>T	1000Genomes,gnomAD
MGAM	O43451	p.Asp702His	rs782092847	missense variant	-	NC_000007.14:g.142036850G>C	ExAC,gnomAD
MGAM	O43451	p.Ser703Phe	COSM4476937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036854C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Leu704Val	rs1157978062	missense variant	-	NC_000007.14:g.142036856C>G	TOPMed,gnomAD
MGAM	O43451	p.Asn707Asp	rs1554466110	missense variant	-	NC_000007.14:g.142036865A>G	gnomAD
MGAM	O43451	p.Ser708Phe	rs868995180	missense variant	-	NC_000007.14:g.142036869C>T	-
MGAM	O43451	p.His711Tyr	rs1554466122	missense variant	-	NC_000007.14:g.142036877C>T	gnomAD
MGAM	O43451	p.His711Gln	rs1554466129	missense variant	-	NC_000007.14:g.142036879C>A	gnomAD
MGAM	O43451	p.Tyr712Cys	rs1249802333	missense variant	-	NC_000007.14:g.142036881A>G	TOPMed,gnomAD
MGAM	O43451	p.Asn714Asp	rs782047805	missense variant	-	NC_000007.14:g.142036886A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile715Leu	rs1554466149	missense variant	-	NC_000007.14:g.142036889A>C	gnomAD
MGAM	O43451	p.Arg716Cys	rs782806699	missense variant	-	NC_000007.14:g.142036892C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg716Gly	rs782806699	missense variant	-	NC_000007.14:g.142036892C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg716His	rs202196208	missense variant	-	NC_000007.14:g.142036893G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg716Leu	rs202196208	missense variant	-	NC_000007.14:g.142036893G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr717Cys	rs782519815	missense variant	-	NC_000007.14:g.142036896A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr718Ile	rs1323927247	missense variant	-	NC_000007.14:g.142036899C>T	TOPMed,gnomAD
MGAM	O43451	p.Leu720Trp	rs782651235	missense variant	-	NC_000007.14:g.142036905T>G	ExAC,gnomAD
MGAM	O43451	p.Pro721Ser	COSM1448701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036907C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Tyr722His	COSM1086444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036910T>C	NCI-TCGA Cosmic
MGAM	O43451	p.Leu723Val	rs781838519	missense variant	-	NC_000007.14:g.142036913C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr725Ile	COSM5534516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036920C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Leu726Val	rs782588998	missense variant	-	NC_000007.14:g.142036922C>G	ExAC,gnomAD
MGAM	O43451	p.Leu726SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142036920C>-	NCI-TCGA
MGAM	O43451	p.Arg729His	rs116034282	missense variant	-	NC_000007.14:g.142036932G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg729Cys	rs375055229	missense variant	-	NC_000007.14:g.142036931C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala730Val	rs1300952698	missense variant	-	NC_000007.14:g.142036935C>T	TOPMed,gnomAD
MGAM	O43451	p.Ala730Ser	rs782240946	missense variant	-	NC_000007.14:g.142036934G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala730Gly	rs1300952698	missense variant	-	NC_000007.14:g.142036935C>G	TOPMed,gnomAD
MGAM	O43451	p.His731Tyr	COSM6176390	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142036937C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Arg733Gln	rs1554466209	missense variant	-	NC_000007.14:g.142036944G>A	gnomAD
MGAM	O43451	p.Arg733Ter	rs782352514	stop gained	-	NC_000007.14:g.142036943C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp735Asn	rs782061861	missense variant	-	NC_000007.14:g.142036949G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr736Met	rs199856344	missense variant	-	NC_000007.14:g.142036953C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala738Thr	rs782154878	missense variant	-	NC_000007.14:g.142036958G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala738Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142036959C>T	NCI-TCGA
MGAM	O43451	p.Arg739Ser	rs782797990	missense variant	-	NC_000007.14:g.142036963G>T	ExAC,gnomAD
MGAM	O43451	p.Pro740Leu	rs1489668081	missense variant	-	NC_000007.14:g.142036965C>T	TOPMed
MGAM	O43451	p.Pro740Ser	rs1024229488	missense variant	-	NC_000007.14:g.142036964C>T	TOPMed,gnomAD
MGAM	O43451	p.Pro740Thr	rs1024229488	missense variant	-	NC_000007.14:g.142036964C>A	TOPMed,gnomAD
MGAM	O43451	p.His743Gln	rs782105470	missense variant	-	NC_000007.14:g.142036975T>A	ExAC,gnomAD
MGAM	O43451	p.His743Asp	rs1247661593	missense variant	-	NC_000007.14:g.142036973C>G	TOPMed
MGAM	O43451	p.His743Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142036974A>T	NCI-TCGA
MGAM	O43451	p.Tyr746Cys	rs755311644	missense variant	-	NC_000007.14:g.142038536A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu747Gln	rs1427610672	missense variant	-	NC_000007.14:g.142038538G>C	TOPMed,gnomAD
MGAM	O43451	p.Glu747Lys	rs1427610672	missense variant	-	NC_000007.14:g.142038538G>A	TOPMed,gnomAD
MGAM	O43451	p.Glu747Gly	rs748542470	missense variant	-	NC_000007.14:g.142038539A>G	ExAC,gnomAD
MGAM	O43451	p.Asp748Gly	rs1342021155	missense variant	-	NC_000007.14:g.142038542A>G	TOPMed
MGAM	O43451	p.Asp748His	rs1359680000	missense variant	-	NC_000007.14:g.142038541G>C	gnomAD
MGAM	O43451	p.Ser750Ile	COSM3832093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142038548G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Trp752Cys	rs1282564332	missense variant	-	NC_000007.14:g.142038555G>T	gnomAD
MGAM	O43451	p.Asp753Asn	rs772288267	missense variant	-	NC_000007.14:g.142038556G>A	ExAC,gnomAD
MGAM	O43451	p.Asp753Tyr	rs772288267	missense variant	-	NC_000007.14:g.142038556G>T	ExAC,gnomAD
MGAM	O43451	p.Asp753Glu	rs1229475146	missense variant	-	NC_000007.14:g.142038558T>A	gnomAD
MGAM	O43451	p.His755Tyr	rs113689539	missense variant	-	NC_000007.14:g.142038562C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln757His	rs201786618	missense variant	-	NC_000007.14:g.142038570G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln757Pro	rs763035955	missense variant	-	NC_000007.14:g.142038569A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe758Leu	COSM1086446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142038573C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Trp760Arg	rs765827662	missense variant	-	NC_000007.14:g.142038577T>C	TOPMed
MGAM	O43451	p.Gly761Trp	rs1235286313	missense variant	-	NC_000007.14:g.142038580G>T	gnomAD
MGAM	O43451	p.Gly763Asp	COSM3832096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142038587G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly763Ser	rs376805556	missense variant	-	NC_000007.14:g.142038586G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu764Phe	rs1475522398	missense variant	-	NC_000007.14:g.142038589C>T	gnomAD
MGAM	O43451	p.Ile766Val	rs906776942	missense variant	-	NC_000007.14:g.142038595A>G	gnomAD
MGAM	O43451	p.Val769Asp	rs750049444	missense variant	-	NC_000007.14:g.142038605T>A	ExAC,gnomAD
MGAM	O43451	p.Glu772Asp	rs1435945116	missense variant	-	NC_000007.14:g.142038615A>C	TOPMed,gnomAD
MGAM	O43451	p.Gly773Ser	rs1219532474	missense variant	-	NC_000007.14:g.142040115G>A	TOPMed
MGAM	O43451	p.Gly773Asp	rs768666141	missense variant	-	NC_000007.14:g.142040116G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly773Val	rs768666141	missense variant	-	NC_000007.14:g.142040116G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala774Thr	rs774448466	missense variant	-	NC_000007.14:g.142040118G>A	ExAC,gnomAD
MGAM	O43451	p.Ala774Glu	rs747913972	missense variant	-	NC_000007.14:g.142040119C>A	ExAC,gnomAD
MGAM	O43451	p.Glu775Lys	rs771831942	missense variant	-	NC_000007.14:g.142040121G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu775Gln	rs771831942	missense variant	-	NC_000007.14:g.142040121G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu775Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142040121G>T	NCI-TCGA
MGAM	O43451	p.Lys776Gln	rs1230766400	missense variant	-	NC_000007.14:g.142040124A>C	gnomAD
MGAM	O43451	p.Lys776Glu	rs1230766400	missense variant	-	NC_000007.14:g.142040124A>G	gnomAD
MGAM	O43451	p.Lys776Arg	rs772908334	missense variant	-	NC_000007.14:g.142040125A>G	ExAC,gnomAD
MGAM	O43451	p.Lys776Thr	rs772908334	missense variant	-	NC_000007.14:g.142040125A>C	ExAC,gnomAD
MGAM	O43451	p.Val777Met	rs1347890132	missense variant	-	NC_000007.14:g.142040127G>A	gnomAD
MGAM	O43451	p.Met778Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142040130A>G	NCI-TCGA
MGAM	O43451	p.Val781Met	rs1267649496	missense variant	-	NC_000007.14:g.142040139G>A	gnomAD
MGAM	O43451	p.Pro782His	rs1452906127	missense variant	-	NC_000007.14:g.142040143C>A	gnomAD
MGAM	O43451	p.Pro782LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142040142C>-	NCI-TCGA
MGAM	O43451	p.Ala784Val	rs1267900787	missense variant	-	NC_000007.14:g.142040149C>T	gnomAD
MGAM	O43451	p.Ala784Thr	rs766048225	missense variant	-	NC_000007.14:g.142040148G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr787Asn	rs374895549	missense variant	-	NC_000007.14:g.142040157T>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr789Ter	rs371423578	stop gained	-	NC_000007.14:g.142040165C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu790Gly	rs753269154	missense variant	-	NC_000007.14:g.142040167A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu790Lys	rs1163875284	missense variant	-	NC_000007.14:g.142040166G>A	gnomAD
MGAM	O43451	p.Glu790Ala	rs753269154	missense variant	-	NC_000007.14:g.142040167A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly792Arg	COSM1086450	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040722G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly792Glu	rs538201085	missense variant	-	NC_000007.14:g.142040723G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly792Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142040723G>C	NCI-TCGA
MGAM	O43451	p.Gly792Trp	rs1258407739	missense variant	-	NC_000007.14:g.142040722G>T	gnomAD
MGAM	O43451	p.Ser793Asn	rs767785374	missense variant	-	NC_000007.14:g.142040726G>A	ExAC,gnomAD
MGAM	O43451	p.Trp797Arg	rs756252544	missense variant	-	NC_000007.14:g.142040737T>C	ExAC,gnomAD
MGAM	O43451	p.Arg798Trp	rs1168847021	missense variant	-	NC_000007.14:g.142040740A>T	gnomAD
MGAM	O43451	p.Lys799Thr	rs1372860929	missense variant	-	NC_000007.14:g.142040744A>C	gnomAD
MGAM	O43451	p.Lys799Glu	rs780332451	missense variant	-	NC_000007.14:g.142040743A>G	ExAC
MGAM	O43451	p.Glu803Lys	rs979538717	missense variant	-	NC_000007.14:g.142040755G>A	TOPMed,gnomAD
MGAM	O43451	p.Met804Thr	rs1218992894	missense variant	-	NC_000007.14:g.142040759T>C	TOPMed
MGAM	O43451	p.Met804Leu	rs1251985936	missense variant	-	NC_000007.14:g.142040758A>T	TOPMed
MGAM	O43451	p.Glu805Lys	COSM3634544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040761G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu805Gly	rs374820212	missense variant	-	NC_000007.14:g.142040762A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu805Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142040761G>C	NCI-TCGA
MGAM	O43451	p.Pro807Ser	rs267601325	missense variant	-	NC_000007.14:g.142040767C>T	TOPMed
MGAM	O43451	p.Gly808Val	COSM745297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040771G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gly808Arg	rs1335413349	missense variant	-	NC_000007.14:g.142040770G>A	gnomAD
MGAM	O43451	p.Gly808Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142040771G>A	NCI-TCGA
MGAM	O43451	p.Asp809Tyr	rs1230148739	missense variant	-	NC_000007.14:g.142040773G>T	gnomAD
MGAM	O43451	p.Lys810Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142040777A>C	NCI-TCGA
MGAM	O43451	p.Ile811Thr	rs187975007	missense variant	-	NC_000007.14:g.142040780T>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His814Gln	rs770778815	missense variant	-	NC_000007.14:g.142040790C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu815Phe	COSM3922874	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040791C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Arg816Ter	rs368880817	stop gained	-	NC_000007.14:g.142040794C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg816Pro	rs947903146	missense variant	-	NC_000007.14:g.142040795G>C	gnomAD
MGAM	O43451	p.Arg816Gln	rs947903146	missense variant	-	NC_000007.14:g.142040795G>A	gnomAD
MGAM	O43451	p.Gly817Glu	rs1203125893	missense variant	-	NC_000007.14:g.142040798G>A	gnomAD
MGAM	O43451	p.Gly817Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142040797G>T	NCI-TCGA
MGAM	O43451	p.Gly818Arg	rs373524046	missense variant	-	NC_000007.14:g.142040800G>C	ESP,TOPMed
MGAM	O43451	p.Gly818Ser	rs373524046	missense variant	-	NC_000007.14:g.142040800G>A	ESP,TOPMed
MGAM	O43451	p.Gly818Asp	rs1332554660	missense variant	-	NC_000007.14:g.142040801G>A	gnomAD
MGAM	O43451	p.Tyr819Cys	rs745567095	missense variant	-	NC_000007.14:g.142040804A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr819Ser	rs745567095	missense variant	-	NC_000007.14:g.142040804A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile820Met	rs1184969263	missense variant	-	NC_000007.14:g.142040808C>G	gnomAD
MGAM	O43451	p.Ile820Val	rs1466471174	missense variant	-	NC_000007.14:g.142040806A>G	TOPMed,gnomAD
MGAM	O43451	p.Thr823Lys	rs769261294	missense variant	-	NC_000007.14:g.142040816C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln824Lys	rs1359110175	missense variant	-	NC_000007.14:g.142040818C>A	TOPMed
MGAM	O43451	p.Gln824Leu	rs1178640473	missense variant	-	NC_000007.14:g.142040819A>T	gnomAD
MGAM	O43451	p.Gln824Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142040818C>G	NCI-TCGA
MGAM	O43451	p.Gln825Lys	rs148440972	missense variant	-	NC_000007.14:g.142040821C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr828Lys	rs762548545	missense variant	-	NC_000007.14:g.142040831C>A	ExAC,gnomAD
MGAM	O43451	p.Thr829Ile	COSM3634550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142040834C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Thr829Ser	rs768988456	missense variant	-	NC_000007.14:g.142040833A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr830Pro	rs774927808	missense variant	-	NC_000007.14:g.142040836A>C	ExAC,gnomAD
MGAM	O43451	p.Thr830Ile	rs1432514373	missense variant	-	NC_000007.14:g.142040837C>T	TOPMed,gnomAD
MGAM	O43451	p.Ala832Val	rs768055689	missense variant	-	NC_000007.14:g.142040843C>T	ExAC,gnomAD
MGAM	O43451	p.Ala832Asp	rs768055689	missense variant	-	NC_000007.14:g.142040843C>A	ExAC,gnomAD
MGAM	O43451	p.Ala832Pro	rs762268083	missense variant	-	NC_000007.14:g.142040842G>C	ExAC,gnomAD
MGAM	O43451	p.Ala832Thr	rs762268083	missense variant	-	NC_000007.14:g.142040842G>A	ExAC,gnomAD
MGAM	O43451	p.Ser833Asn	rs750654956	missense variant	-	NC_000007.14:g.142040846G>A	ExAC,gnomAD
MGAM	O43451	p.Arg834Ter	rs147987126	stop gained	-	NC_000007.14:g.142047786C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg834Ter	rs147987126	stop gained	-	NC_000007.14:g.142047786C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg834Gln	rs778528944	missense variant	-	NC_000007.14:g.142047787G>A	ExAC,gnomAD
MGAM	O43451	p.Arg834Gln	rs778528944	missense variant	-	NC_000007.14:g.142047787G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Lys835Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142047791G>T	NCI-TCGA
MGAM	O43451	p.Asn836Lys	rs1356222551	missense variant	-	NC_000007.14:g.142047794C>A	gnomAD
MGAM	O43451	p.Pro837Leu	rs1258261741	missense variant	-	NC_000007.14:g.142047796C>T	TOPMed
MGAM	O43451	p.Pro837Ala	rs368897231	missense variant	-	NC_000007.14:g.142047795C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro837Thr	rs368897231	missense variant	-	NC_000007.14:g.142047795C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu838Ile	rs1294962260	missense variant	-	NC_000007.14:g.142047798C>A	TOPMed
MGAM	O43451	p.Leu838Ile	rs1294962260	missense variant	-	NC_000007.14:g.142047798C>A	NCI-TCGA
MGAM	O43451	p.Gly839Ser	rs556685550	missense variant	-	NC_000007.14:g.142047801G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Gly839Val	rs773857751	missense variant	-	NC_000007.14:g.142047802G>T	ExAC,gnomAD
MGAM	O43451	p.Leu840Pro	rs1229615324	missense variant	-	NC_000007.14:g.142047805T>C	gnomAD
MGAM	O43451	p.Ala843Asp	COSM3778175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142047814C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ala843Thr	rs771380682	missense variant	-	NC_000007.14:g.142047813G>A	ExAC,gnomAD
MGAM	O43451	p.Leu844Pro	rs574870049	missense variant	-	NC_000007.14:g.142047817T>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Asp845Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142047819G>T	NCI-TCGA
MGAM	O43451	p.Glu849Lys	rs775500483	missense variant	-	NC_000007.14:g.142047831G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu849Gly	rs201270012	missense variant	-	NC_000007.14:g.142047832A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala850Thr	rs767376034	missense variant	-	NC_000007.14:g.142047834G>A	ExAC
MGAM	O43451	p.Glu853Ter	COSM282785	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142047843G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Leu854Phe	rs200141280	missense variant	-	NC_000007.14:g.142047846C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu854Ile	rs200141280	missense variant	-	NC_000007.14:g.142047846C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe855Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142047851C>A	NCI-TCGA
MGAM	O43451	p.Trp856Leu	rs766250572	missense variant	-	NC_000007.14:g.142047853G>T	ExAC,gnomAD
MGAM	O43451	p.Trp856Arg	rs371715948	missense variant	-	NC_000007.14:g.142047852T>C	ESP,ExAC,TOPMed
MGAM	O43451	p.Asp857Asn	rs753403339	missense variant	-	NC_000007.14:g.142047855G>A	ExAC,gnomAD
MGAM	O43451	p.Asp857Asn	rs753403339	missense variant	-	NC_000007.14:g.142047855G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Asn858Asp	rs2960746	missense variant	-	NC_000007.14:g.142047858A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly859Ala	rs367922659	missense variant	-	NC_000007.14:g.142047862G>C	ESP,TOPMed,gnomAD
MGAM	O43451	p.Glu860Lys	rs778719364	missense variant	-	NC_000007.14:g.142047864G>A	ExAC,gnomAD
MGAM	O43451	p.Thr861Lys	rs371863994	missense variant	-	NC_000007.14:g.142047868C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr861Arg	rs371863994	missense variant	-	NC_000007.14:g.142047868C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr861Met	rs371863994	missense variant	-	NC_000007.14:g.142047868C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr861Met	rs371863994	missense variant	-	NC_000007.14:g.142047868C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Lys862Arg	rs1382378208	missense variant	-	NC_000007.14:g.142047871A>G	gnomAD
MGAM	O43451	p.Asp863Asn	rs374784553	missense variant	-	NC_000007.14:g.142047873G>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Asp863Asn	rs374784553	missense variant	-	NC_000007.14:g.142047873G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Thr864Ile	rs752451969	missense variant	-	NC_000007.14:g.142050238C>T	ExAC,gnomAD
MGAM	O43451	p.Ala866Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142050244C>T	NCI-TCGA
MGAM	O43451	p.Asn867Ser	rs757956465	missense variant	-	NC_000007.14:g.142050247A>G	ExAC,gnomAD
MGAM	O43451	p.Asn867Lys	rs2961087	missense variant	-	NC_000007.14:g.142050248T>G	TOPMed
MGAM	O43451	p.Asn867Thr	rs757956465	missense variant	-	NC_000007.14:g.142050247A>C	ExAC,gnomAD
MGAM	O43451	p.Asn867Asp	rs1016579416	missense variant	-	NC_000007.14:g.142050246A>G	TOPMed
MGAM	O43451	p.Val869Leu	rs1192270770	missense variant	-	NC_000007.14:g.142050252G>T	gnomAD
MGAM	O43451	p.Leu871Phe	COSM3634571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050258C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Leu871Ile	COSM3634568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050258C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Cys873Trp	rs768578658	missense variant	-	NC_000007.14:g.142050266T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu874Lys	COSM4396886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050267G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ser876Phe	rs1324062233	missense variant	-	NC_000007.14:g.142050274C>T	TOPMed
MGAM	O43451	p.Ser876Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142050274C>A	NCI-TCGA
MGAM	O43451	p.Val877Leu	rs770210571	missense variant	-	NC_000007.14:g.142050276G>C	ExAC,gnomAD
MGAM	O43451	p.Val877Ala	rs1383104101	missense variant	-	NC_000007.14:g.142050277T>C	gnomAD
MGAM	O43451	p.Asn880Asp	rs775376917	missense variant	-	NC_000007.14:g.142050697A>G	ExAC,gnomAD
MGAM	O43451	p.Arg881His	rs749949340	missense variant	-	NC_000007.14:g.142050701G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg881Cys	rs201733895	missense variant	-	NC_000007.14:g.142050700C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg881Leu	rs749949340	missense variant	-	NC_000007.14:g.142050701G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu883Gly	COSM86799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050707A>G	NCI-TCGA Cosmic
MGAM	O43451	p.Glu883Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142050706G>A	NCI-TCGA
MGAM	O43451	p.Val884Met	rs1207484947	missense variant	-	NC_000007.14:g.142050709G>A	gnomAD
MGAM	O43451	p.Val884Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142050710T>A	NCI-TCGA
MGAM	O43451	p.Asn885Thr	rs374204300	missense variant	-	NC_000007.14:g.142050713A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile886Thr	COSM6108848	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050716T>C	NCI-TCGA Cosmic
MGAM	O43451	p.Gln888Arg	rs766985240	missense variant	-	NC_000007.14:g.142050722A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr890Asn	rs750913774	missense variant	-	NC_000007.14:g.142050728C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr891Cys	rs1168367656	missense variant	-	NC_000007.14:g.142050731A>G	TOPMed
MGAM	O43451	p.Lys892Thr	COSM1448710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050734A>C	NCI-TCGA Cosmic
MGAM	O43451	p.Lys892Ter	COSM6108845	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142050733A>T	NCI-TCGA Cosmic
MGAM	O43451	p.Lys892Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142050735G>T	NCI-TCGA
MGAM	O43451	p.Asn895Ser	rs200893409	missense variant	-	NC_000007.14:g.142050743A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu897Phe	rs1248852726	missense variant	-	NC_000007.14:g.142050750A>T	TOPMed
MGAM	O43451	p.Leu897Ser	rs766895812	missense variant	-	NC_000007.14:g.142050749T>C	ExAC,gnomAD
MGAM	O43451	p.Leu897Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142050748T>G	NCI-TCGA
MGAM	O43451	p.Phe899Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142050756T>G	NCI-TCGA
MGAM	O43451	p.Asn900Ile	COSM3634574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050758A>T	NCI-TCGA Cosmic
MGAM	O43451	p.Asn900Ser	rs1338618493	missense variant	-	NC_000007.14:g.142050758A>G	gnomAD
MGAM	O43451	p.Glu901Asp	COSM745294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050762G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Glu901Gln	rs534301777	missense variant	-	NC_000007.14:g.142050760G>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Ile902Asn	COSM4570419	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050764T>A	NCI-TCGA Cosmic
MGAM	O43451	p.Leu905Phe	COSM3634577	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050772C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Leu905Ile	rs371591084	missense variant	-	NC_000007.14:g.142050772C>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Leu905Ile	rs371591084	missense variant	-	NC_000007.14:g.142050772C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly906Trp	rs758469281	missense variant	-	NC_000007.14:g.142050775G>T	ExAC,gnomAD
MGAM	O43451	p.Thr907Met	rs187898444	missense variant	-	NC_000007.14:g.142050779C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu909Asp	rs1342317223	missense variant	-	NC_000007.14:g.142050786A>C	TOPMed
MGAM	O43451	p.Pro910Leu	rs769794141	missense variant	-	NC_000007.14:g.142050788C>T	ExAC,gnomAD
MGAM	O43451	p.Pro910Leu	rs769794141	missense variant	-	NC_000007.14:g.142050788C>T	NCI-TCGA
MGAM	O43451	p.Ser911Arg	COSM3878837	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050792C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ser911Asn	rs775571398	missense variant	-	NC_000007.14:g.142050791G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser911Thr	rs775571398	missense variant	-	NC_000007.14:g.142050791G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val913Ile	rs1456471736	missense variant	-	NC_000007.14:g.142050796G>A	TOPMed,gnomAD
MGAM	O43451	p.Thr914Ile	rs1373032416	missense variant	-	NC_000007.14:g.142050800C>T	gnomAD
MGAM	O43451	p.Val915Leu	rs761413101	missense variant	-	NC_000007.14:g.142050802G>T	ExAC,gnomAD
MGAM	O43451	p.His917Tyr	COSM3878840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050808C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Asn918Lys	rs145430437	missense variant	-	NC_000007.14:g.142050813T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly919Asp	rs575790209	missense variant	-	NC_000007.14:g.142050815G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val920Phe	COSM3995409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050817G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Val920Ile	rs760193866	missense variant	-	NC_000007.14:g.142050817G>A	ExAC,gnomAD
MGAM	O43451	p.Val920Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142050817G>C	NCI-TCGA
MGAM	O43451	p.Gln923Ter	rs200498907	stop gained	-	NC_000007.14:g.142050826C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr924Ala	rs754398347	missense variant	-	NC_000007.14:g.142050829A>G	ExAC,gnomAD
MGAM	O43451	p.Thr924Pro	rs754398347	missense variant	-	NC_000007.14:g.142050829A>C	ExAC,gnomAD
MGAM	O43451	p.Thr924Ile	rs1463574738	missense variant	-	NC_000007.14:g.142050830C>T	TOPMed
MGAM	O43451	p.Ser925Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142050833C>A	NCI-TCGA
MGAM	O43451	p.Pro926Ser	rs1325829429	missense variant	-	NC_000007.14:g.142050835C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro926Ser	rs1325829429	missense variant	-	NC_000007.14:g.142050835C>T	gnomAD
MGAM	O43451	p.Thr927Pro	rs765556358	missense variant	-	NC_000007.14:g.142050838A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr927Ala	rs765556358	missense variant	-	NC_000007.14:g.142050838A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr927Ile	rs753133766	missense variant	-	NC_000007.14:g.142050839C>T	ExAC,gnomAD
MGAM	O43451	p.Thr929Ile	rs1321529491	missense variant	-	NC_000007.14:g.142050845C>T	gnomAD
MGAM	O43451	p.Tyr930Cys	rs1203045133	missense variant	-	NC_000007.14:g.142050848A>G	TOPMed,gnomAD
MGAM	O43451	p.Asn933Lys	COSM6108842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142050858C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Leu934Met	rs1261564245	missense variant	-	NC_000007.14:g.142050859C>A	gnomAD
MGAM	O43451	p.Lys935Arg	rs1486944113	missense variant	-	NC_000007.14:g.142050863A>G	TOPMed,gnomAD
MGAM	O43451	p.Val936Phe	rs751889879	missense variant	-	NC_000007.14:g.142052294G>T	ExAC,gnomAD
MGAM	O43451	p.Ala937Thr	rs191173315	missense variant	-	NC_000007.14:g.142052297G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile938Phe	COSM3634589	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052300A>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ile938Ser	COSM1448713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052301T>G	NCI-TCGA Cosmic
MGAM	O43451	p.Ile938Val	rs1306564536	missense variant	-	NC_000007.14:g.142052300A>G	TOPMed,gnomAD
MGAM	O43451	p.Ile938Leu	rs1306564536	missense variant	-	NC_000007.14:g.142052300A>C	TOPMed,gnomAD
MGAM	O43451	p.Asp941His	rs1248651160	missense variant	-	NC_000007.14:g.142052309G>C	TOPMed,gnomAD
MGAM	O43451	p.Asp941Asn	rs1248651160	missense variant	-	NC_000007.14:g.142052309G>A	TOPMed,gnomAD
MGAM	O43451	p.Ile942Thr	rs754826511	missense variant	-	NC_000007.14:g.142052313T>C	ExAC,gnomAD
MGAM	O43451	p.Asp943Asn	rs747835199	missense variant	-	NC_000007.14:g.142052315G>A	ExAC,gnomAD
MGAM	O43451	p.Asp943Gly	rs1423313024	missense variant	-	NC_000007.14:g.142052316A>G	TOPMed
MGAM	O43451	p.Asp943Asn	rs747835199	missense variant	-	NC_000007.14:g.142052315G>A	NCI-TCGA
MGAM	O43451	p.Leu944Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052318C>A	NCI-TCGA
MGAM	O43451	p.Leu945His	rs1469080553	missense variant	-	NC_000007.14:g.142052322T>A	TOPMed
MGAM	O43451	p.Leu945Phe	rs777378634	missense variant	-	NC_000007.14:g.142052321C>T	ExAC,gnomAD
MGAM	O43451	p.Gly947Glu	COSM1086459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052328G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly947Arg	rs746699052	missense variant	-	NC_000007.14:g.142052327G>A	ExAC,gnomAD
MGAM	O43451	p.Gly947Arg	rs746699052	missense variant	-	NC_000007.14:g.142052327G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Glu948Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052330G>A	NCI-TCGA
MGAM	O43451	p.Tyr950Cys	COSM1086463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052337A>G	NCI-TCGA Cosmic
MGAM	O43451	p.Thr951Ala	rs180749383	missense variant	-	NC_000007.14:g.142052339A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr951Arg	rs776066701	missense variant	-	NC_000007.14:g.142052340C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr951Ile	rs776066701	missense variant	-	NC_000007.14:g.142052340C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu953Lys	rs776130546	missense variant	-	NC_000007.14:g.142052345G>A	ExAC,gnomAD
MGAM	O43451	p.Glu953Gln	rs776130546	missense variant	-	NC_000007.14:g.142052345G>C	ExAC,gnomAD
MGAM	O43451	p.Ser955Asn	rs751800690	missense variant	-	NC_000007.14:g.142052352G>A	ExAC,gnomAD
MGAM	O43451	p.Ser955Cys	rs764603605	missense variant	-	NC_000007.14:g.142052351A>T	ExAC,gnomAD
MGAM	O43451	p.Ile956Leu	rs767877732	missense variant	-	NC_000007.14:g.142052354A>T	ExAC,gnomAD
MGAM	O43451	p.Ile958Thr	rs750414725	missense variant	-	NC_000007.14:g.142052361T>C	ExAC,gnomAD
MGAM	O43451	p.Arg959Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052364G>T	NCI-TCGA
MGAM	O43451	p.Glu962Gly	rs1461545242	missense variant	-	NC_000007.14:g.142052373A>G	gnomAD
MGAM	O43451	p.Glu962Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142052372G>T	NCI-TCGA
MGAM	O43451	p.Ile964Leu	rs1185035115	missense variant	-	NC_000007.14:g.142052378A>C	gnomAD
MGAM	O43451	p.Ile964Val	rs1185035115	missense variant	-	NC_000007.14:g.142052378A>G	gnomAD
MGAM	O43451	p.Asp965Asn	rs756226556	missense variant	-	NC_000007.14:g.142052381G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp965Tyr	rs756226556	missense variant	-	NC_000007.14:g.142052381G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys966Ser	rs1052186356	missense variant	-	NC_000007.14:g.142052385G>C	TOPMed,gnomAD
MGAM	O43451	p.Cys966Arg	rs1186847866	missense variant	-	NC_000007.14:g.142052384T>C	gnomAD
MGAM	O43451	p.Cys966Ser	rs1186847866	missense variant	-	NC_000007.14:g.142052384T>A	gnomAD
MGAM	O43451	p.Pro968Ala	rs1170107519	missense variant	-	NC_000007.14:g.142052390C>G	gnomAD
MGAM	O43451	p.Pro968Leu	rs1406912099	missense variant	-	NC_000007.14:g.142052391C>T	gnomAD
MGAM	O43451	p.Pro968Leu	rs1406912099	missense variant	-	NC_000007.14:g.142052391C>T	NCI-TCGA
MGAM	O43451	p.Glu970Lys	rs377088094	missense variant	-	NC_000007.14:g.142052396G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn971Asp	rs199621773	missense variant	-	NC_000007.14:g.142052399A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly972Arg	rs746825641	missense variant	-	NC_000007.14:g.142052402G>C	ExAC,gnomAD
MGAM	O43451	p.Ala973Thr	rs1360539571	missense variant	-	NC_000007.14:g.142052405G>A	gnomAD
MGAM	O43451	p.Ala973Asp	rs550361154	missense variant	-	NC_000007.14:g.142052406C>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser974Phe	rs372426741	missense variant	-	NC_000007.14:g.142052409C>T	ESP,TOPMed,gnomAD
MGAM	O43451	p.Ser974Cys	rs372426741	missense variant	-	NC_000007.14:g.142052409C>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Ala975Ser	rs370898028	missense variant	-	NC_000007.14:g.142052411G>T	ESP,ExAC,gnomAD
MGAM	O43451	p.Glu976Lys	rs775838690	missense variant	-	NC_000007.14:g.142052414G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu976Ala	rs116536012	missense variant	-	NC_000007.14:g.142052415A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu976Lys	rs775838690	missense variant	-	NC_000007.14:g.142052414G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Cys978Arg	rs1394181284	missense variant	-	NC_000007.14:g.142052420T>C	gnomAD
MGAM	O43451	p.Cys978Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052421G>C	NCI-TCGA
MGAM	O43451	p.Thr979Ala	rs1389822438	missense variant	-	NC_000007.14:g.142052423A>G	TOPMed
MGAM	O43451	p.Ala980Thr	rs774808565	missense variant	-	NC_000007.14:g.142052426G>A	ExAC,gnomAD
MGAM	O43451	p.Ala980Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052426G>T	NCI-TCGA
MGAM	O43451	p.Arg981Cys	rs146202976	missense variant	-	NC_000007.14:g.142052429C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg981His	rs199504784	missense variant	-	NC_000007.14:g.142052430G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg981Cys	rs146202976	missense variant	-	NC_000007.14:g.142052429C>T	NCI-TCGA
MGAM	O43451	p.Ile984Asn	rs773554487	missense variant	-	NC_000007.14:g.142052439T>A	ExAC,gnomAD
MGAM	O43451	p.Trp985Cys	rs760661457	missense variant	-	NC_000007.14:g.142052443G>C	ExAC,gnomAD
MGAM	O43451	p.Glu986Lys	COSM3634598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052444G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ala987Thr	rs1160704031	missense variant	-	NC_000007.14:g.142052784G>A	TOPMed
MGAM	O43451	p.Asn989Ser	rs565688553	missense variant	-	NC_000007.14:g.142052791A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn989Asp	rs1470247194	missense variant	-	NC_000007.14:g.142052790A>G	TOPMed
MGAM	O43451	p.Ser990Cys	rs1439293104	missense variant	-	NC_000007.14:g.142052794C>G	gnomAD
MGAM	O43451	p.Ser990Phe	rs1439293104	missense variant	-	NC_000007.14:g.142052794C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser990Phe	rs1439293104	missense variant	-	NC_000007.14:g.142052794C>T	gnomAD
MGAM	O43451	p.Ser990Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052794C>A	NCI-TCGA
MGAM	O43451	p.Ser991Pro	rs764012099	missense variant	-	NC_000007.14:g.142052796T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser991Thr	rs764012099	missense variant	-	NC_000007.14:g.142052796T>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro994Ser	COSM3634604	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052805C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Phe995Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052808T>A	NCI-TCGA
MGAM	O43451	p.Cys996Phe	rs1423358565	missense variant	-	NC_000007.14:g.142052812G>T	gnomAD
MGAM	O43451	p.Cys996Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142052813C>A	NCI-TCGA
MGAM	O43451	p.Cys996LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142052806_142052807insT	NCI-TCGA
MGAM	O43451	p.Tyr997Ter	rs1391488770	stop gained	-	NC_000007.14:g.142052816T>G	TOPMed,gnomAD
MGAM	O43451	p.Tyr997Phe	rs1397790758	missense variant	-	NC_000007.14:g.142052815A>T	gnomAD
MGAM	O43451	p.Val999Phe	rs761573383	missense variant	-	NC_000007.14:g.142052820G>T	ExAC,gnomAD
MGAM	O43451	p.Val999Ala	rs1253340055	missense variant	-	NC_000007.14:g.142052821T>C	TOPMed
MGAM	O43451	p.Val999Ile	rs761573383	missense variant	-	NC_000007.14:g.142052820G>A	ExAC,gnomAD
MGAM	O43451	p.Val999Ile	rs761573383	missense variant	-	NC_000007.14:g.142052820G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Asn1000Ser	rs1374252643	missense variant	-	NC_000007.14:g.142052824A>G	gnomAD
MGAM	O43451	p.Asn1000Lys	rs374732273	missense variant	-	NC_000007.14:g.142052825C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1001Asn	rs750216590	missense variant	-	NC_000007.14:g.142052826G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1001Glu	rs1269993813	missense variant	-	NC_000007.14:g.142052828C>A	TOPMed
MGAM	O43451	p.Asp1001Asn	rs750216590	missense variant	-	NC_000007.14:g.142052826G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Asp1001Gly	rs755745000	missense variant	-	NC_000007.14:g.142052827A>G	ExAC,gnomAD
MGAM	O43451	p.Leu1002Val	rs779588141	missense variant	-	NC_000007.14:g.142052829C>G	ExAC,gnomAD
MGAM	O43451	p.Leu1002Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052830T>C	NCI-TCGA
MGAM	O43451	p.Ser1004Thr	COSM599583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052835T>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1004Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052836C>T	NCI-TCGA
MGAM	O43451	p.Val1005Leu	rs1339937102	missense variant	-	NC_000007.14:g.142052838G>C	gnomAD
MGAM	O43451	p.Val1005Ala	rs368535316	missense variant	-	NC_000007.14:g.142052839T>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1006Gly	COSM3878843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052841A>G	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1006Ile	rs1457534436	missense variant	-	NC_000007.14:g.142052842G>T	gnomAD
MGAM	O43451	p.Asp1007Asn	rs372595232	missense variant	-	NC_000007.14:g.142052844G>A	ESP
MGAM	O43451	p.Asp1007Gly	rs1184422107	missense variant	-	NC_000007.14:g.142052845A>G	gnomAD
MGAM	O43451	p.Asp1007Gly	rs1184422107	missense variant	-	NC_000007.14:g.142052845A>G	NCI-TCGA
MGAM	O43451	p.Val1008Phe	COSM452491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052847G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gln1009Arg	rs1369336045	missense variant	-	NC_000007.14:g.142052851A>G	gnomAD
MGAM	O43451	p.Tyr1010Cys	rs1373499992	missense variant	-	NC_000007.14:g.142052854A>G	TOPMed
MGAM	O43451	p.Ser1012Phe	rs141712469	missense variant	-	NC_000007.14:g.142052860C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1012Cys	rs141712469	missense variant	-	NC_000007.14:g.142052860C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1013Gln	rs1259282185	missense variant	-	NC_000007.14:g.142052864T>G	gnomAD
MGAM	O43451	p.His1013Arg	rs1172277481	missense variant	-	NC_000007.14:g.142052863A>G	gnomAD
MGAM	O43451	p.His1013Tyr	rs556296527	missense variant	-	NC_000007.14:g.142052862C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1014Glu	COSM2862158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052866G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ala1015Thr	rs1397484459	missense variant	-	NC_000007.14:g.142052868G>A	gnomAD
MGAM	O43451	p.Ala1015Val	rs372193855	missense variant	-	NC_000007.14:g.142052869C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1017Thr	COSM3634616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052874G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1018Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052878A>C	NCI-TCGA
MGAM	O43451	p.Ile1019Val	rs1336988925	missense variant	-	NC_000007.14:g.142052880A>G	gnomAD
MGAM	O43451	p.Ser1020Tyr	COSM4828873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052884C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1020Phe	COSM599580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052884C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Lys1022Met	COSM3634619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052890A>T	NCI-TCGA Cosmic
MGAM	O43451	p.Lys1022Thr	rs759597075	missense variant	-	NC_000007.14:g.142052890A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1022Asn	rs769909883	missense variant	-	NC_000007.14:g.142052891G>C	ExAC,gnomAD
MGAM	O43451	p.Ser1023Phe	rs1478782787	missense variant	-	NC_000007.14:g.142052893C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1023Phe	rs1478782787	missense variant	-	NC_000007.14:g.142052893C>T	TOPMed
MGAM	O43451	p.Ser1023Thr	rs1170318512	missense variant	-	NC_000007.14:g.142052892T>A	TOPMed
MGAM	O43451	p.Ser1024Phe	rs774241019	missense variant	-	NC_000007.14:g.142052896C>T	ExAC,gnomAD
MGAM	O43451	p.Val1025Ile	rs369372605	missense variant	-	NC_000007.14:g.142052898G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1025Ile	rs369372605	missense variant	-	NC_000007.14:g.142052898G>A	NCI-TCGA
MGAM	O43451	p.Tyr1026His	rs879240596	missense variant	-	NC_000007.14:g.142052901T>C	gnomAD
MGAM	O43451	p.Ala1027Thr	rs750175325	missense variant	-	NC_000007.14:g.142052904G>A	ExAC,gnomAD
MGAM	O43451	p.Ala1027Gly	rs1190814491	missense variant	-	NC_000007.14:g.142052905C>G	gnomAD
MGAM	O43451	p.Asn1028Ser	rs375330398	missense variant	-	NC_000007.14:g.142052908A>G	gnomAD
MGAM	O43451	p.Ala1029Val	rs1265261649	missense variant	-	NC_000007.14:g.142052911C>T	gnomAD
MGAM	O43451	p.Pro1031Leu	COSM3922880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142052917C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1032Tyr	rs753606617	missense variant	-	NC_000007.14:g.142052920C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1032Cys	rs753606617	missense variant	-	NC_000007.14:g.142052920C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1033Ile	rs560292735	missense variant	-	NC_000007.14:g.142052923C>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Thr1033Ala	rs187645172	missense variant	-	NC_000007.14:g.142052922A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1034Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052925C>A	NCI-TCGA
MGAM	O43451	p.Val1035Met	rs369972042	missense variant	-	NC_000007.14:g.142052928G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1036Lys	rs150559219	missense variant	-	NC_000007.14:g.142052933C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1037Thr	rs564600502	missense variant	-	NC_000007.14:g.142052934C>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Pro1037Ser	rs564600502	missense variant	-	NC_000007.14:g.142052934C>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Leu1038His	rs763035134	missense variant	-	NC_000007.14:g.142052938T>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1039His	rs139662456	missense variant	-	NC_000007.14:g.142052941G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1039Cys	rs750930085	missense variant	-	NC_000007.14:g.142052940C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1039Cys	rs750930085	missense variant	-	NC_000007.14:g.142052940C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg1039Leu	rs139662456	missense variant	-	NC_000007.14:g.142052941G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1041His	rs1285241391	missense variant	-	NC_000007.14:g.142052946G>C	gnomAD
MGAM	O43451	p.Thr1043Ser	rs766139452	missense variant	-	NC_000007.14:g.142052952A>T	ExAC,gnomAD
MGAM	O43451	p.Thr1043Ile	rs1232791756	missense variant	-	NC_000007.14:g.142052953C>T	TOPMed,gnomAD
MGAM	O43451	p.Thr1043Ser	rs766139452	missense variant	-	NC_000007.14:g.142052952A>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Tyr1044Ter	rs752471950	stop gained	-	NC_000007.14:g.142052957C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1045Pro	rs376565637	missense variant	-	NC_000007.14:g.142052959A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1045Arg	rs376565637	missense variant	-	NC_000007.14:g.142052959A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1046Asn	rs1217310491	missense variant	-	NC_000007.14:g.142052963G>C	TOPMed,gnomAD
MGAM	O43451	p.Glu1048Asp	rs752184441	missense variant	-	NC_000007.14:g.142052969A>C	ExAC,gnomAD
MGAM	O43451	p.Met1049Thr	rs1426658697	missense variant	-	NC_000007.14:g.142052971T>C	gnomAD
MGAM	O43451	p.Met1049Leu	rs761137030	missense variant	-	NC_000007.14:g.142052970A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1049Ile	rs1322413551	missense variant	-	NC_000007.14:g.142052972G>C	gnomAD
MGAM	O43451	p.Gln1051Arg	rs752054058	missense variant	-	NC_000007.14:g.142052977A>G	ExAC,gnomAD
MGAM	O43451	p.Gln1051MetAlaIle	NCI-TCGA novel	insertion	-	NC_000007.14:g.142052978_142052979insATGGCCATT	NCI-TCGA
MGAM	O43451	p.Gln1051HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142052977_142052978insCATT	NCI-TCGA
MGAM	O43451	p.Phe1052Leu	rs1340327741	missense variant	-	NC_000007.14:g.142052981C>G	TOPMed
MGAM	O43451	p.Lys1053Arg	rs757610053	missense variant	-	NC_000007.14:g.142052983A>G	ExAC,gnomAD
MGAM	O43451	p.Lys1053Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142052983A>T	NCI-TCGA
MGAM	O43451	p.Ile1054Val	rs1379444864	missense variant	-	NC_000007.14:g.142054754A>G	gnomAD
MGAM	O43451	p.Tyr1055Asn	rs1444833248	missense variant	-	NC_000007.14:g.142054757T>A	gnomAD
MGAM	O43451	p.Tyr1055Ser	rs750720862	missense variant	-	NC_000007.14:g.142054758A>C	ExAC,gnomAD
MGAM	O43451	p.Asp1056Glu	rs756540037	missense variant	-	NC_000007.14:g.142054762T>A	ExAC,gnomAD
MGAM	O43451	p.Asp1056Asn	COSM3634634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054760G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1056Tyr	rs1219135693	missense variant	-	NC_000007.14:g.142054760G>T	TOPMed
MGAM	O43451	p.Pro1057Ser	rs780243925	missense variant	-	NC_000007.14:g.142054763C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1057Arg	rs1280104854	missense variant	-	NC_000007.14:g.142054764C>G	TOPMed
MGAM	O43451	p.Pro1057Ser	rs780243925	missense variant	-	NC_000007.14:g.142054763C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Asn1058Lys	rs374510544	missense variant	-	NC_000007.14:g.142054768C>A	ESP,TOPMed,gnomAD
MGAM	O43451	p.Asn1058Asp	rs1232488183	missense variant	-	NC_000007.14:g.142054766A>G	TOPMed
MGAM	O43451	p.Lys1059Asn	rs371468966	missense variant	-	NC_000007.14:g.142054771G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1059Asn	rs371468966	missense variant	-	NC_000007.14:g.142054771G>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1060Ser	rs544377960	missense variant	-	NC_000007.14:g.142054773A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1061Gln	rs1458860849	missense variant	-	NC_000007.14:g.142054776G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Arg1061Trp	rs533260845	missense variant	-	NC_000007.14:g.142054775C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1061Gln	rs1458860849	missense variant	-	NC_000007.14:g.142054776G>A	TOPMed,gnomAD
MGAM	O43451	p.Arg1061Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142054776G>T	NCI-TCGA
MGAM	O43451	p.Tyr1062His	rs187047261	missense variant	-	NC_000007.14:g.142054778T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1063Asp	rs776774087	missense variant	-	NC_000007.14:g.142054783A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1063Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142054782A>C	NCI-TCGA
MGAM	O43451	p.Val1064Ile	rs745642247	missense variant	-	NC_000007.14:g.142054784G>A	ExAC,gnomAD
MGAM	O43451	p.Val1064Ala	rs1411602274	missense variant	-	NC_000007.14:g.142054785T>C	TOPMed,gnomAD
MGAM	O43451	p.Pro1065Leu	COSM4393919	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054788C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1065Ser	rs1423141462	missense variant	-	NC_000007.14:g.142054787C>T	gnomAD
MGAM	O43451	p.Pro1067Leu	rs372065250	missense variant	-	NC_000007.14:g.142054794C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1067Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142054793C>T	NCI-TCGA
MGAM	O43451	p.Asn1069Lys	rs1402638772	missense variant	-	NC_000007.14:g.142054801C>A	TOPMed
MGAM	O43451	p.Pro1071Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142054806C>T	NCI-TCGA
MGAM	O43451	p.Pro1071Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142054805C>T	NCI-TCGA
MGAM	O43451	p.Met1073Val	rs566877632	missense variant	-	NC_000007.14:g.142054811A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1074Gln	rs762472000	missense variant	-	NC_000007.14:g.142054815C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1074Leu	rs762472000	missense variant	-	NC_000007.14:g.142054815C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1075Phe	COSM4487744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054818C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1075Pro	rs768376974	missense variant	-	NC_000007.14:g.142054817T>C	ExAC,gnomAD
MGAM	O43451	p.Thr1077Ser	rs1195883873	missense variant	-	NC_000007.14:g.142054823A>T	TOPMed
MGAM	O43451	p.Thr1077Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142054823A>C	NCI-TCGA
MGAM	O43451	p.Pro1078Leu	COSM5406751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054827C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1078His	rs1215656720	missense variant	-	NC_000007.14:g.142054827C>A	gnomAD
MGAM	O43451	p.Pro1078Ser	rs768009854	missense variant	-	NC_000007.14:g.142054826C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Pro1078Ser	rs768009854	missense variant	-	NC_000007.14:g.142054826C>T	ExAC,gnomAD
MGAM	O43451	p.Glu1079Gln	rs145885349	missense variant	-	NC_000007.14:g.142054829G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1079Lys	rs145885349	missense variant	-	NC_000007.14:g.142054829G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1081Glu	rs201314573	missense variant	-	NC_000007.14:g.142054835C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1082His	rs1196166927	missense variant	-	NC_000007.14:g.142054839T>A	gnomAD
MGAM	O43451	p.Leu1082Val	rs1444556442	missense variant	-	NC_000007.14:g.142054838C>G	TOPMed
MGAM	O43451	p.Tyr1083His	rs754264280	missense variant	-	NC_000007.14:g.142054841T>C	ExAC,gnomAD
MGAM	O43451	p.Tyr1083Ter	rs779196441	stop gained	-	NC_000007.14:g.142054843T>A	ExAC,gnomAD
MGAM	O43451	p.Tyr1083Cys	rs755093530	missense variant	-	NC_000007.14:g.142054842A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1084Val	rs1235516893	missense variant	-	NC_000007.14:g.142054845A>T	gnomAD
MGAM	O43451	p.Lys1088Thr	COSM1086479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054857A>C	NCI-TCGA Cosmic
MGAM	O43451	p.Lys1089Glu	rs369315124	missense variant	-	NC_000007.14:g.142054859A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1089Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142054859A>T	NCI-TCGA
MGAM	O43451	p.Pro1091Leu	COSM2862204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054866C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Phe1092Ser	rs769882031	missense variant	-	NC_000007.14:g.142054869T>C	ExAC,gnomAD
MGAM	O43451	p.Phe1092Leu	rs545704228	missense variant	-	NC_000007.14:g.142054868T>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Gly1093Glu	rs779664504	missense variant	-	NC_000007.14:g.142054872G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1093Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142054872G>T	NCI-TCGA
MGAM	O43451	p.Ile1094Thr	rs1358963015	missense variant	-	NC_000007.14:g.142054875T>C	TOPMed,gnomAD
MGAM	O43451	p.Glu1095Asp	COSM1086483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054879A>C	NCI-TCGA Cosmic
MGAM	O43451	p.Ile1096Ser	rs1431849178	missense variant	-	NC_000007.14:g.142054881T>G	gnomAD
MGAM	O43451	p.Ile1096Ser	rs1431849178	missense variant	-	NC_000007.14:g.142054881T>G	NCI-TCGA
MGAM	O43451	p.Arg1097Cys	rs749121609	missense variant	-	NC_000007.14:g.142054883C>T	ExAC,gnomAD
MGAM	O43451	p.Arg1097His	rs768127980	missense variant	-	NC_000007.14:g.142054884G>A	ExAC,gnomAD
MGAM	O43451	p.Arg1097His	rs768127980	missense variant	-	NC_000007.14:g.142054884G>A	NCI-TCGA
MGAM	O43451	p.Arg1097Cys	rs749121609	missense variant	-	NC_000007.14:g.142054883C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg1098Gln	rs761301600	missense variant	-	NC_000007.14:g.142054887G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1098Trp	rs199990294	missense variant	-	NC_000007.14:g.142054886C>T	1000Genomes,ESP,ExAC,TOPMed
MGAM	O43451	p.Arg1098Gln	rs761301600	missense variant	-	NC_000007.14:g.142054887G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg1098Trp	rs199990294	missense variant	-	NC_000007.14:g.142054886C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Lys1099Asn	rs199810911	missense variant	-	NC_000007.14:g.142054891G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1099Arg	rs771622663	missense variant	-	NC_000007.14:g.142054890A>G	ExAC
MGAM	O43451	p.Thr1101Ala	rs201221721	missense variant	-	NC_000007.14:g.142054895A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1101Ser	rs201221721	missense variant	-	NC_000007.14:g.142054895A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1101Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142054896C>A	NCI-TCGA
MGAM	O43451	p.Gly1102Cys	COSM6176384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142054898G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gly1102Asp	rs754080524	missense variant	-	NC_000007.14:g.142054899G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1102Asp	rs754080524	missense variant	-	NC_000007.14:g.142054899G>A	NCI-TCGA
MGAM	O43451	p.Thr1103Ile	rs760008474	missense variant	-	NC_000007.14:g.142054902C>T	ExAC,gnomAD
MGAM	O43451	p.Ile1104Val	rs765361066	missense variant	-	NC_000007.14:g.142054904A>G	ExAC,gnomAD
MGAM	O43451	p.Trp1106Ser	rs1310924245	missense variant	-	NC_000007.14:g.142055560G>C	gnomAD
MGAM	O43451	p.Trp1106Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142055561G>A	NCI-TCGA
MGAM	O43451	p.Asp1107Asn	COSM3634652	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055562G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1107Glu	rs747964254	missense variant	-	NC_000007.14:g.142055564C>G	ExAC,gnomAD
MGAM	O43451	p.Ser1108Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142055566C>T	NCI-TCGA
MGAM	O43451	p.Ser1108Cys	rs757974729	missense variant	-	NC_000007.14:g.142055566C>G	ExAC,gnomAD
MGAM	O43451	p.Leu1110His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142055572T>A	NCI-TCGA
MGAM	O43451	p.Phe1113Val	rs1301234862	missense variant	-	NC_000007.14:g.142055580T>G	gnomAD
MGAM	O43451	p.Phe1113Ser	rs746521064	missense variant	-	NC_000007.14:g.142055581T>C	ExAC,gnomAD
MGAM	O43451	p.Phe1113Leu	rs371426689	missense variant	-	NC_000007.14:g.142055582T>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1114Ile	rs776984571	missense variant	-	NC_000007.14:g.142055584C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe1115Leu	rs1351716425	missense variant	-	NC_000007.14:g.142055588C>A	TOPMed,gnomAD
MGAM	O43451	p.Ser1116Ile	rs3024261	missense variant	-	NC_000007.14:g.142055590G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1116Gly	rs746338647	missense variant	-	NC_000007.14:g.142055589A>G	ExAC,gnomAD
MGAM	O43451	p.Ser1116Thr	rs3024261	missense variant	-	NC_000007.14:g.142055590G>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1116Asn	rs3024261	missense variant	-	NC_000007.14:g.142055590G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1118Thr	rs555175389	missense variant	-	NC_000007.14:g.142055596T>C	1000Genomes,TOPMed,gnomAD
MGAM	O43451	p.Met1118Ile	COSM271033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055597G>C	NCI-TCGA Cosmic
MGAM	O43451	p.Met1118Val	rs763424236	missense variant	-	NC_000007.14:g.142055595A>G	NCI-TCGA
MGAM	O43451	p.Met1118Val	rs763424236	missense variant	-	NC_000007.14:g.142055595A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe1119Val	rs1370750446	missense variant	-	NC_000007.14:g.142055598T>G	gnomAD
MGAM	O43451	p.Phe1119Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142055599T>C	NCI-TCGA
MGAM	O43451	p.Arg1121His	rs370241545	missense variant	-	NC_000007.14:g.142055605G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1121Leu	rs370241545	missense variant	-	NC_000007.14:g.142055605G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1121Cys	rs764397440	missense variant	-	NC_000007.14:g.142055604C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1121His	rs370241545	missense variant	-	NC_000007.14:g.142055605G>A	NCI-TCGA
MGAM	O43451	p.Ser1123Tyr	COSM1448719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055611C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Thr1124Ala	rs750489666	missense variant	-	NC_000007.14:g.142055613A>G	ExAC,gnomAD
MGAM	O43451	p.Arg1125His	rs758260512	missense variant	-	NC_000007.14:g.142055617G>A	ExAC,gnomAD
MGAM	O43451	p.Arg1125Ser	rs374214973	missense variant	-	NC_000007.14:g.142055616C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1125Gly	rs374214973	missense variant	-	NC_000007.14:g.142055616C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1125Cys	rs374214973	missense variant	-	NC_000007.14:g.142055616C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg1125Cys	rs374214973	missense variant	-	NC_000007.14:g.142055616C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1126Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142055619C>A	NCI-TCGA
MGAM	O43451	p.Pro1127Ser	COSM229081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055622C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1127Leu	COSM3634662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055623C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Lys1129Glu	rs371387433	missense variant	-	NC_000007.14:g.142055628A>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Leu1131Arg	rs1231689388	missense variant	-	NC_000007.14:g.142055635T>G	TOPMed
MGAM	O43451	p.Tyr1132Cys	rs1283465913	missense variant	-	NC_000007.14:g.142055638A>G	TOPMed,gnomAD
MGAM	O43451	p.Gly1133Ser	rs756884470	missense variant	-	NC_000007.14:g.142055640G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1133Val	rs994686231	missense variant	-	NC_000007.14:g.142055641G>T	TOPMed,gnomAD
MGAM	O43451	p.Gly1135Arg	rs1299819756	missense variant	-	NC_000007.14:g.142055646G>A	TOPMed
MGAM	O43451	p.Gly1135Arg	rs1299819756	missense variant	-	NC_000007.14:g.142055646G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu1136Lys	rs866353991	missense variant	-	NC_000007.14:g.142055649G>A	-
MGAM	O43451	p.Glu1136Lys	rs866353991	missense variant	-	NC_000007.14:g.142055649G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Thr1137Ser	rs368334063	missense variant	-	NC_000007.14:g.142055653C>G	ESP
MGAM	O43451	p.Glu1138Asp	rs745375696	missense variant	-	NC_000007.14:g.142055657G>T	ExAC,gnomAD
MGAM	O43451	p.Arg1140Met	COSM3832102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055662G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Arg1140Thr	rs185758556	missense variant	-	NC_000007.14:g.142055662G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1140Lys	rs185758556	missense variant	-	NC_000007.14:g.142055662G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1141Tyr	COSM6108836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055665C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Arg1143Ser	rs1199615922	missense variant	-	NC_000007.14:g.142055672G>C	TOPMed
MGAM	O43451	p.Asp1145Gly	rs769181346	missense variant	-	NC_000007.14:g.142055677A>G	ExAC,gnomAD
MGAM	O43451	p.Trp1148Ter	COSM3634680	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142055687G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Trp1148Leu	rs1261220607	missense variant	-	NC_000007.14:g.142055686G>T	TOPMed
MGAM	O43451	p.Trp1151Ter	rs1278329906	stop gained	-	NC_000007.14:g.142055695G>A	TOPMed
MGAM	O43451	p.Gly1152Ala	rs772211918	missense variant	-	NC_000007.14:g.142055698G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1153Ile	rs575188237	missense variant	-	NC_000007.14:g.142055702G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1156Leu	rs190285241	missense variant	-	NC_000007.14:g.142055710G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1156Ter	rs779349942	stop gained	-	NC_000007.14:g.142055709C>T	NCI-TCGA
MGAM	O43451	p.Arg1156Ter	rs779349942	stop gained	-	NC_000007.14:g.142055709C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1156Gln	rs190285241	missense variant	-	NC_000007.14:g.142055710G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1157His	rs763830175	missense variant	-	NC_000007.14:g.142055712G>C	ExAC,gnomAD
MGAM	O43451	p.Asp1157Glu	rs1401978899	missense variant	-	NC_000007.14:g.142055714C>A	gnomAD
MGAM	O43451	p.Gln1158Ter	rs751343957	stop gained	-	NC_000007.14:g.142055715C>T	ExAC,gnomAD
MGAM	O43451	p.Gln1158Lys	rs751343957	missense variant	-	NC_000007.14:g.142055715C>A	ExAC,gnomAD
MGAM	O43451	p.Pro1159Thr	rs964230745	missense variant	-	NC_000007.14:g.142055718C>A	TOPMed
MGAM	O43451	p.Pro1159Ser	rs964230745	missense variant	-	NC_000007.14:g.142055718C>T	TOPMed
MGAM	O43451	p.Pro1159Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142055719C>T	NCI-TCGA
MGAM	O43451	p.Pro1160Thr	COSM6108833	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142055721C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1160Ser	rs756869162	missense variant	-	NC_000007.14:g.142055721C>T	ExAC,gnomAD
MGAM	O43451	p.Gly1161Glu	rs1257913428	missense variant	-	NC_000007.14:g.142055725G>A	gnomAD
MGAM	O43451	p.Gly1161Val	rs1257913428	missense variant	-	NC_000007.14:g.142055725G>T	gnomAD
MGAM	O43451	p.Gly1161Glu	rs1257913428	missense variant	-	NC_000007.14:g.142055725G>A	NCI-TCGA
MGAM	O43451	p.Lys1163Glu	rs558774330	missense variant	-	NC_000007.14:g.142056003A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Lys1163Arg	rs200851430	missense variant	-	NC_000007.14:g.142056004A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1164Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142056007A>T	NCI-TCGA
MGAM	O43451	p.Asn1165Tyr	rs747153106	missense variant	-	NC_000007.14:g.142056009A>T	ExAC,gnomAD
MGAM	O43451	p.Ser1166Phe	rs866572586	missense variant	-	NC_000007.14:g.142056013C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1166Phe	rs866572586	missense variant	-	NC_000007.14:g.142056013C>T	-
MGAM	O43451	p.Tyr1167His	rs537830668	missense variant	-	NC_000007.14:g.142056015T>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1167Cys	rs745962488	missense variant	-	NC_000007.14:g.142056016A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1167Asn	rs537830668	missense variant	-	NC_000007.14:g.142056015T>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1168Val	rs1440433997	missense variant	-	NC_000007.14:g.142056019G>T	gnomAD
MGAM	O43451	p.Val1169Ile	rs1310192819	missense variant	-	NC_000007.14:g.142056021G>A	TOPMed,gnomAD
MGAM	O43451	p.His1170Tyr	rs768568411	missense variant	-	NC_000007.14:g.142056024C>T	ExAC,gnomAD
MGAM	O43451	p.His1170Pro	rs774221928	missense variant	-	NC_000007.14:g.142056025A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1171Thr	rs1386283834	missense variant	-	NC_000007.14:g.142056027C>A	TOPMed
MGAM	O43451	p.Pro1171Leu	rs1309197083	missense variant	-	NC_000007.14:g.142056028C>T	gnomAD
MGAM	O43451	p.Tyr1173Cys	rs1221707062	missense variant	-	NC_000007.14:g.142056034A>G	gnomAD
MGAM	O43451	p.Gly1175Arg	rs1487334316	missense variant	-	NC_000007.14:g.142056039G>A	TOPMed,gnomAD
MGAM	O43451	p.Gly1175Glu	rs761637327	missense variant	-	NC_000007.14:g.142056040G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1175Ala	rs761637327	missense variant	-	NC_000007.14:g.142056040G>C	ExAC,gnomAD
MGAM	O43451	p.Leu1176Met	rs773079770	missense variant	-	NC_000007.14:g.142056042C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1178Lys	rs752271004	missense variant	-	NC_000007.14:g.142056048G>A	gnomAD
MGAM	O43451	p.Glu1178Asp	rs766130699	missense variant	-	NC_000007.14:g.142056050G>C	ExAC,gnomAD
MGAM	O43451	p.Asp1179Glu	rs200989242	missense variant	-	NC_000007.14:g.142056053C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1180Cys	rs201783917	missense variant	-	NC_000007.14:g.142056054G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1180Ser	rs201783917	missense variant	-	NC_000007.14:g.142056054G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1180Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142056054G>C	NCI-TCGA
MGAM	O43451	p.Gly1180Ser	rs201783917	missense variant	-	NC_000007.14:g.142056054G>A	NCI-TCGA
MGAM	O43451	p.Ser1181Arg	rs753196720	missense variant	-	NC_000007.14:g.142056059T>A	ExAC,gnomAD
MGAM	O43451	p.Ser1181Arg	rs753196720	missense variant	-	NC_000007.14:g.142056059T>G	ExAC,gnomAD
MGAM	O43451	p.Leu1188Pro	rs1223365850	missense variant	-	NC_000007.14:g.142056079T>C	TOPMed
MGAM	O43451	p.Ser1190Asn	rs1380612816	missense variant	-	NC_000007.14:g.142056085G>A	NCI-TCGA
MGAM	O43451	p.Ser1190Asn	rs1380612816	missense variant	-	NC_000007.14:g.142056085G>A	gnomAD
MGAM	O43451	p.Ser1190Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142056084A>C	NCI-TCGA
MGAM	O43451	p.Thr1196Met	rs756381544	missense variant	-	NC_000007.14:g.142056836C>T	ExAC,gnomAD
MGAM	O43451	p.Thr1196Met	rs756381544	missense variant	-	NC_000007.14:g.142056836C>T	NCI-TCGA
MGAM	O43451	p.Phe1197Leu	COSM3634687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142056840C>G	NCI-TCGA Cosmic
MGAM	O43451	p.Gln1198Ter	COSM3634690	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142056841C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1199Leu	COSM1496580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142056845C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1201Ser	rs200314253	missense variant	-	NC_000007.14:g.142056850C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1201Leu	rs1300527797	missense variant	-	NC_000007.14:g.142056851C>T	gnomAD
MGAM	O43451	p.Leu1203Val	rs1341843312	missense variant	-	NC_000007.14:g.142056856T>G	gnomAD
MGAM	O43451	p.Thr1204Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142056859A>G	NCI-TCGA
MGAM	O43451	p.Thr1204Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142056860C>T	NCI-TCGA
MGAM	O43451	p.Tyr1205Cys	rs1269255447	missense variant	-	NC_000007.14:g.142056863A>G	gnomAD
MGAM	O43451	p.Tyr1205Asn	rs777913178	missense variant	-	NC_000007.14:g.142056862T>A	ExAC,gnomAD
MGAM	O43451	p.Arg1206Leu	rs780595542	missense variant	-	NC_000007.14:g.142056866G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1206Cys	rs115080419	missense variant	-	NC_000007.14:g.142056865C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1206His	rs780595542	missense variant	-	NC_000007.14:g.142056866G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1207Asn	rs375460909	missense variant	-	NC_000007.14:g.142056869C>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Thr1208Ala	rs1217261323	missense variant	-	NC_000007.14:g.142056871A>G	gnomAD
MGAM	O43451	p.Gly1210GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142056874G>-	NCI-TCGA
MGAM	O43451	p.Gly1210Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142056878G>A	NCI-TCGA
MGAM	O43451	p.Val1211Leu	rs774806012	missense variant	-	NC_000007.14:g.142056880G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1212Pro	rs1192499432	missense variant	-	NC_000007.14:g.142056884T>C	gnomAD
MGAM	O43451	p.Asp1213Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142056886G>A	NCI-TCGA
MGAM	O43451	p.Phe1214Leu	rs866798528	missense variant	-	NC_000007.14:g.142056891T>G	TOPMed,gnomAD
MGAM	O43451	p.Val1216Met	rs764504567	missense variant	-	NC_000007.14:g.142056895G>A	ExAC,gnomAD
MGAM	O43451	p.Leu1218Phe	rs752102018	missense variant	-	NC_000007.14:g.142056903G>C	ExAC,TOPMed
MGAM	O43451	p.Gly1219Glu	rs202179894	missense variant	-	NC_000007.14:g.142056905G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1220Arg	rs200326465	missense variant	-	NC_000007.14:g.142056908C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1220Leu	rs200326465	missense variant	-	NC_000007.14:g.142056908C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1220Leu	rs200326465	missense variant	-	NC_000007.14:g.142056908C>T	NCI-TCGA
MGAM	O43451	p.Pro1222Ser	COSM3634693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142056913C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1222Thr	rs768217462	missense variant	-	NC_000007.14:g.142056913C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1223Lys	rs755147832	missense variant	-	NC_000007.14:g.142056916G>A	ExAC,gnomAD
MGAM	O43451	p.Glu1223Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142056917A>G	NCI-TCGA
MGAM	O43451	p.Leu1224Arg	rs1248114304	missense variant	-	NC_000007.14:g.142056920T>G	TOPMed
MGAM	O43451	p.Val1225Leu	rs777818988	missense variant	-	NC_000007.14:g.142056922G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1226Ile	rs556277836	missense variant	-	NC_000007.14:g.142056926C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1228Arg	rs374194991	missense variant	-	NC_000007.14:g.142056932A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1229His	rs1057407765	missense variant	-	NC_000007.14:g.142056934T>C	TOPMed,gnomAD
MGAM	O43451	p.Gly1234Ala	rs1465806339	missense variant	-	NC_000007.14:g.142058210G>C	TOPMed,gnomAD
MGAM	O43451	p.Gly1234Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142058210G>T	NCI-TCGA
MGAM	O43451	p.Arg1235Leu	COSM4395353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058213G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Arg1235Trp	rs372381068	missense variant	-	NC_000007.14:g.142058212C>T	ESP,TOPMed,gnomAD
MGAM	O43451	p.Arg1235Gln	rs772551734	missense variant	-	NC_000007.14:g.142058213G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1236Leu	COSM6108830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058216C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1236LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142058213G>-	NCI-TCGA
MGAM	O43451	p.Pro1236His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142058216C>A	NCI-TCGA
MGAM	O43451	p.Val1237Met	rs773834182	missense variant	-	NC_000007.14:g.142058218G>A	ExAC,gnomAD
MGAM	O43451	p.Met1238Ile	rs1426043027	missense variant	-	NC_000007.14:g.142058223G>C	gnomAD
MGAM	O43451	p.Met1238Thr	rs760911985	missense variant	-	NC_000007.14:g.142058222T>C	ExAC,gnomAD
MGAM	O43451	p.Val1239Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142058225T>C	NCI-TCGA
MGAM	O43451	p.Pro1240Arg	COSM3634699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058228C>G	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1240Leu	rs776894832	missense variant	-	NC_000007.14:g.142058228C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1240Ser	rs766812635	missense variant	-	NC_000007.14:g.142058227C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1240Ser	rs766812635	missense variant	-	NC_000007.14:g.142058227C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Tyr1241Ter	rs759740339	stop gained	-	NC_000007.14:g.142058232C>G	ExAC,gnomAD
MGAM	O43451	p.Tyr1241Asp	rs1220708491	missense variant	-	NC_000007.14:g.142058230T>G	gnomAD
MGAM	O43451	p.Tyr1241His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142058230T>C	NCI-TCGA
MGAM	O43451	p.Trp1242Leu	COSM1448728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058234G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Trp1242Ter	COSM230610	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142058235G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Leu1244Met	COSM1086499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058239T>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly1245Arg	rs765574900	missense variant	-	NC_000007.14:g.142058242G>C	ExAC,gnomAD
MGAM	O43451	p.Phe1246Ser	rs777631001	missense variant	-	NC_000007.14:g.142058246T>C	gnomAD
MGAM	O43451	p.Cys1249Gly	rs767531660	missense variant	-	NC_000007.14:g.142058254T>G	ExAC,gnomAD
MGAM	O43451	p.Cys1249Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142058255G>A	NCI-TCGA
MGAM	O43451	p.Arg1250Leu	COSM3634705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058258G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Arg1250Gly	rs377213841	missense variant	-	NC_000007.14:g.142058257C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1250His	rs756029993	missense variant	-	NC_000007.14:g.142058258G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1250Cys	rs377213841	missense variant	-	NC_000007.14:g.142058257C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1250His	rs756029993	missense variant	-	NC_000007.14:g.142058258G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Tyr1251Ter	rs1444128045	stop gained	-	NC_000007.14:g.142058262T>G	TOPMed
MGAM	O43451	p.Tyr1251Cys	rs779857945	missense variant	-	NC_000007.14:g.142058261A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1252Asp	rs1160691795	missense variant	-	NC_000007.14:g.142058264G>A	gnomAD
MGAM	O43451	p.Gly1252Asp	rs1160691795	missense variant	-	NC_000007.14:g.142058264G>A	NCI-TCGA
MGAM	O43451	p.Tyr1253Ter	rs749039626	stop gained	-	NC_000007.14:g.142058268C>A	ExAC,gnomAD
MGAM	O43451	p.Gln1254His	COSM1086503	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058271G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gln1254Arg	rs778593501	missense variant	-	NC_000007.14:g.142058270A>G	ExAC,gnomAD
MGAM	O43451	p.Gln1254His	rs747649207	missense variant	-	NC_000007.14:g.142058271G>C	ExAC,gnomAD
MGAM	O43451	p.Gln1254Glu	rs754566758	missense variant	-	NC_000007.14:g.142058269C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1255Asp	rs771606438	missense variant	-	NC_000007.14:g.142058272A>G	ExAC,gnomAD
MGAM	O43451	p.Asn1255Lys	rs2961078	missense variant	-	NC_000007.14:g.142058274T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1256Asn	rs1483665766	missense variant	-	NC_000007.14:g.142058275G>A	NCI-TCGA
MGAM	O43451	p.Asp1256Asn	rs1483665766	missense variant	-	NC_000007.14:g.142058275G>A	TOPMed
MGAM	O43451	p.Ser1257Cys	rs1341213814	missense variant	-	NC_000007.14:g.142058279C>G	gnomAD
MGAM	O43451	p.Glu1258Val	rs747497594	missense variant	-	NC_000007.14:g.142058282A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1260Thr	rs111374090	missense variant	-	NC_000007.14:g.142058287G>A	NCI-TCGA
MGAM	O43451	p.Ala1260Ser	rs111374090	missense variant	-	NC_000007.14:g.142058287G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1260Thr	rs111374090	missense variant	-	NC_000007.14:g.142058287G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1261Gly	rs1245848440	missense variant	-	NC_000007.14:g.142058290A>G	TOPMed
MGAM	O43451	p.Tyr1263Phe	rs760039586	missense variant	-	NC_000007.14:g.142058297A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1264Gly	rs770140228	missense variant	-	NC_000007.14:g.142058300A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1265Val	rs1396262685	missense variant	-	NC_000007.14:g.142058303A>T	TOPMed
MGAM	O43451	p.Met1266Thr	COSM3374518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058306T>C	NCI-TCGA Cosmic
MGAM	O43451	p.Met1266Val	rs559779417	missense variant	-	NC_000007.14:g.142058305A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1266Leu	rs559779417	missense variant	-	NC_000007.14:g.142058305A>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1268Asp	rs533240347	missense variant	-	NC_000007.14:g.142058312C>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Ala1268Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142058312C>T	NCI-TCGA
MGAM	O43451	p.Ala1269Gly	rs760592782	missense variant	-	NC_000007.14:g.142058315C>G	ExAC,gnomAD
MGAM	O43451	p.Ala1269Pro	rs372400073	missense variant	-	NC_000007.14:g.142058314G>C	ESP,ExAC,TOPMed
MGAM	O43451	p.Gln1270His	rs766241317	missense variant	-	NC_000007.14:g.142058319G>T	ExAC,gnomAD
MGAM	O43451	p.Pro1272Ser	COSM3634711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142058323C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1272Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142058324C>T	NCI-TCGA
MGAM	O43451	p.Asp1274Glu	rs2960758	missense variant	-	NC_000007.14:g.142059474T>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1275Met	rs1255039773	missense variant	-	NC_000007.14:g.142059475G>A	TOPMed
MGAM	O43451	p.Gln1276Arg	rs770457039	missense variant	-	NC_000007.14:g.142059479A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1277Cys	rs191199615	missense variant	-	NC_000007.14:g.142059482A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1278Ter	COSM3778178	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142059485C>G	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1278Thr	rs1315842027	missense variant	-	NC_000007.14:g.142059484T>A	gnomAD
MGAM	O43451	p.Ser1278Leu	rs146623163	missense variant	-	NC_000007.14:g.142059485C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1279Gly	rs1377245295	missense variant	-	NC_000007.14:g.142059488A>G	TOPMed,gnomAD
MGAM	O43451	p.Asp1279Asn	rs1274712796	missense variant	-	NC_000007.14:g.142059487G>A	gnomAD
MGAM	O43451	p.Ile1280Met	rs774503213	missense variant	-	NC_000007.14:g.142059492C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1281Asn	rs748225017	missense variant	-	NC_000007.14:g.142059493G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1281Asn	rs748225017	missense variant	-	NC_000007.14:g.142059493G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Tyr1282Cys	rs542752170	missense variant	-	NC_000007.14:g.142059497A>G	TOPMed,gnomAD
MGAM	O43451	p.Met1283Val	rs759340776	missense variant	-	NC_000007.14:g.142059499A>G	TOPMed,gnomAD
MGAM	O43451	p.Glu1284Gln	rs772089255	missense variant	-	NC_000007.14:g.142059502G>C	ExAC
MGAM	O43451	p.Arg1285Trp	rs773299141	missense variant	-	NC_000007.14:g.142059505C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1285Trp	rs773299141	missense variant	-	NC_000007.14:g.142059505C>T	NCI-TCGA
MGAM	O43451	p.Arg1285Gln	rs759425386	missense variant	-	NC_000007.14:g.142059506G>A	ExAC,gnomAD
MGAM	O43451	p.Gln1286His	rs1387787225	missense variant	-	NC_000007.14:g.142059510G>T	TOPMed
MGAM	O43451	p.Gln1286Lys	rs765176332	missense variant	-	NC_000007.14:g.142059508C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1287Val	rs775254501	missense variant	-	NC_000007.14:g.142059511C>G	ExAC,gnomAD
MGAM	O43451	p.Leu1287Arg	rs762726986	missense variant	-	NC_000007.14:g.142059512T>G	ExAC,gnomAD
MGAM	O43451	p.Asp1288Asn	rs1171584655	missense variant	-	NC_000007.14:g.142059514G>A	gnomAD
MGAM	O43451	p.Asp1288Glu	rs1440415006	missense variant	-	NC_000007.14:g.142059516C>A	gnomAD
MGAM	O43451	p.Asp1288Gly	rs763774415	missense variant	-	NC_000007.14:g.142059515A>G	ExAC,gnomAD
MGAM	O43451	p.Phe1289Ile	rs1298123788	missense variant	-	NC_000007.14:g.142059517T>A	gnomAD
MGAM	O43451	p.Thr1290Ala	rs770239289	missense variant	-	NC_000007.14:g.142059520A>G	TOPMed,gnomAD
MGAM	O43451	p.Thr1290Ile	rs1380498230	missense variant	-	NC_000007.14:g.142059521C>T	gnomAD
MGAM	O43451	p.Leu1291Ile	rs751220955	missense variant	-	NC_000007.14:g.142059523C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1293Ser	rs1294587147	missense variant	-	NC_000007.14:g.142059529C>T	gnomAD
MGAM	O43451	p.Lys1294Arg	rs575918064	missense variant	-	NC_000007.14:g.142059533A>G	1000Genomes
MGAM	O43451	p.Phe1295Ser	rs756956993	missense variant	-	NC_000007.14:g.142059536T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1296Ser	rs767098256	missense variant	-	NC_000007.14:g.142059538G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1296Val	rs536696775	missense variant	-	NC_000007.14:g.142059539C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1296Thr	rs767098256	missense variant	-	NC_000007.14:g.142059538G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1296Pro	rs767098256	missense variant	-	NC_000007.14:g.142059538G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1297Glu	COSM3634714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059542G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly1297Arg	rs755336969	missense variant	-	NC_000007.14:g.142059541G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1299Leu	rs748265150	missense variant	-	NC_000007.14:g.142059548C>T	ExAC,gnomAD
MGAM	O43451	p.Ala1300Pro	rs1340116053	missense variant	-	NC_000007.14:g.142059550G>C	TOPMed
MGAM	O43451	p.Ile1302Val	rs1255513712	missense variant	-	NC_000007.14:g.142059556A>G	gnomAD
MGAM	O43451	p.Asn1303Ser	rs199746207	missense variant	-	NC_000007.14:g.142059560A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1304Pro	rs769721754	missense variant	-	NC_000007.14:g.142059563G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1304Cys	rs747153890	missense variant	-	NC_000007.14:g.142059562C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1304His	rs769721754	missense variant	-	NC_000007.14:g.142059563G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1304His	rs769721754	missense variant	-	NC_000007.14:g.142059563G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Met1305Ile	rs1310367414	missense variant	-	NC_000007.14:g.142059567G>A	TOPMed
MGAM	O43451	p.Lys1306Gln	COSM3698228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059568A>C	NCI-TCGA Cosmic
MGAM	O43451	p.Ala1307Asp	rs1170148392	missense variant	-	NC_000007.14:g.142059572C>A	gnomAD
MGAM	O43451	p.Ala1307Ser	rs762791471	missense variant	-	NC_000007.14:g.142059571G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1307Thr	rs762791471	missense variant	-	NC_000007.14:g.142059571G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1311Leu	COSM6108827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059584G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Arg1311Trp	rs573145045	missense variant	-	NC_000007.14:g.142059583C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1311Trp	rs573145045	missense variant	-	NC_000007.14:g.142059583C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg1311Gln	rs774233528	missense variant	-	NC_000007.14:g.142059584G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1315Met	rs1418317437	missense variant	-	NC_000007.14:g.142059597T>G	TOPMed
MGAM	O43451	p.Asp1317Gly	rs1247460301	missense variant	-	NC_000007.14:g.142059857A>G	gnomAD
MGAM	O43451	p.Asp1317Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142059856G>A	NCI-TCGA
MGAM	O43451	p.Pro1318Arg	COSM6176381	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059860C>G	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1318Ser	COSM3634720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059859C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1318Leu	rs1192108444	missense variant	-	NC_000007.14:g.142059860C>T	gnomAD
MGAM	O43451	p.Ala1319Thr	rs1395079930	missense variant	-	NC_000007.14:g.142059862G>A	gnomAD
MGAM	O43451	p.Ser1321Pro	rs761723333	missense variant	-	NC_000007.14:g.142059868T>C	ExAC,gnomAD
MGAM	O43451	p.Glu1324Gly	rs1317231771	missense variant	-	NC_000007.14:g.142059878A>G	gnomAD
MGAM	O43451	p.Gln1326Ter	COSM1086513	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142059883C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gln1326Arg	rs374679841	missense variant	-	NC_000007.14:g.142059884A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1327His	COSM3431322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059887C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1327Ala	rs1323643098	missense variant	-	NC_000007.14:g.142059886C>G	TOPMed,gnomAD
MGAM	O43451	p.Pro1327Thr	rs1323643098	missense variant	-	NC_000007.14:g.142059886C>A	TOPMed,gnomAD
MGAM	O43451	p.Pro1329Leu	rs1281147281	missense variant	-	NC_000007.14:g.142059893C>T	gnomAD
MGAM	O43451	p.Pro1329Thr	rs1289064654	missense variant	-	NC_000007.14:g.142059892C>A	TOPMed
MGAM	O43451	p.Ala1330Val	rs1223272580	missense variant	-	NC_000007.14:g.142059896C>T	gnomAD
MGAM	O43451	p.Ala1330Thr	rs765785097	missense variant	-	NC_000007.14:g.142059895G>A	ExAC,gnomAD
MGAM	O43451	p.Arg1333Gln	rs372720908	missense variant	-	NC_000007.14:g.142059905G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1333Gly	rs184974986	missense variant	-	NC_000007.14:g.142059904C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1333Trp	rs184974986	missense variant	-	NC_000007.14:g.142059904C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1334Ser	rs1212270440	missense variant	-	NC_000007.14:g.142059907G>A	gnomAD
MGAM	O43451	p.Gly1334Val	rs1252776260	missense variant	-	NC_000007.14:g.142059908G>T	gnomAD
MGAM	O43451	p.Val1335Ala	rs757501872	missense variant	-	NC_000007.14:g.142059911T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1335Met	rs556773642	missense variant	-	NC_000007.14:g.142059910G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Glu1336Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142059914A>G	NCI-TCGA
MGAM	O43451	p.Asp1337Asn	COSM3634723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059916G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1338Gly	rs1395774348	missense variant	-	NC_000007.14:g.142059920A>G	TOPMed
MGAM	O43451	p.Val1339Ile	rs745975997	missense variant	-	NC_000007.14:g.142059922G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1341Met	rs371809571	missense variant	-	NC_000007.14:g.142059930C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1341Val	rs1418212410	missense variant	-	NC_000007.14:g.142059928A>G	gnomAD
MGAM	O43451	p.Lys1342Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142059932A>C	NCI-TCGA
MGAM	O43451	p.Pro1344Thr	rs376193103	missense variant	-	NC_000007.14:g.142059937C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1344Leu	rs772041393	missense variant	-	NC_000007.14:g.142059938C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1346Glu	rs773160209	missense variant	-	NC_000007.14:g.142059945T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1346Ala	rs937702346	missense variant	-	NC_000007.14:g.142059944A>C	TOPMed,gnomAD
MGAM	O43451	p.Gly1347Ter	rs568844863	stop gained	-	NC_000007.14:g.142059946G>T	gnomAD
MGAM	O43451	p.Gly1347Ala	rs1441650508	missense variant	-	NC_000007.14:g.142059947G>C	TOPMed,gnomAD
MGAM	O43451	p.Gly1347Arg	rs568844863	missense variant	-	NC_000007.14:g.142059946G>A	gnomAD
MGAM	O43451	p.Gly1347Glu	rs1441650508	missense variant	-	NC_000007.14:g.142059947G>A	TOPMed,gnomAD
MGAM	O43451	p.Gly1347Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142059947G>T	NCI-TCGA
MGAM	O43451	p.Asp1348Asn	COSM3634726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142059949G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ile1349Val	rs909549408	missense variant	-	NC_000007.14:g.142059952A>G	TOPMed,gnomAD
MGAM	O43451	p.Ile1349Met	rs1351301352	missense variant	-	NC_000007.14:g.142059954T>G	gnomAD
MGAM	O43451	p.Val1350Phe	rs1357380059	missense variant	-	NC_000007.14:g.142059955G>T	TOPMed,gnomAD
MGAM	O43451	p.Trp1351Ter	rs1272733541	stop gained	-	NC_000007.14:g.142059960G>A	gnomAD
MGAM	O43451	p.Trp1351Ter	rs1231688882	stop gained	-	NC_000007.14:g.142059959G>A	TOPMed,gnomAD
MGAM	O43451	p.Gly1352Glu	rs1340523455	missense variant	-	NC_000007.14:g.142059962G>A	gnomAD
MGAM	O43451	p.Gly1352Arg	rs1302981903	missense variant	-	NC_000007.14:g.142059961G>C	gnomAD
MGAM	O43451	p.Gly1352Glu	rs1340523455	missense variant	-	NC_000007.14:g.142059962G>A	NCI-TCGA
MGAM	O43451	p.Gly1352GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142059959G>-	NCI-TCGA
MGAM	O43451	p.Lys1353Asn	rs368053105	missense variant	-	NC_000007.14:g.142059966G>T	ExAC,gnomAD
MGAM	O43451	p.Val1354Ile	rs1254914799	missense variant	-	NC_000007.14:g.142060311G>A	gnomAD
MGAM	O43451	p.Trp1355Arg	rs374999893	missense variant	-	NC_000007.14:g.142060314T>C	ESP,ExAC,gnomAD
MGAM	O43451	p.Trp1355Cys	rs757127341	missense variant	-	NC_000007.14:g.142060316G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1355Cys	rs757127341	missense variant	-	NC_000007.14:g.142060316G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1355CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142060315G>-	NCI-TCGA
MGAM	O43451	p.Pro1356Leu	rs1464309690	missense variant	-	NC_000007.14:g.142060318C>T	gnomAD
MGAM	O43451	p.Pro1356Thr	rs780874631	missense variant	-	NC_000007.14:g.142060317C>A	ExAC,gnomAD
MGAM	O43451	p.Phe1358Ile	rs1270904362	missense variant	-	NC_000007.14:g.142060323T>A	TOPMed
MGAM	O43451	p.Pro1359Ser	rs866544940	missense variant	-	NC_000007.14:g.142060326C>T	gnomAD
MGAM	O43451	p.Pro1359Ser	rs866544940	missense variant	-	NC_000007.14:g.142060326C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1360Asn	COSM4833956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142060329G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1360Ala	rs1197620977	missense variant	-	NC_000007.14:g.142060330A>C	TOPMed
MGAM	O43451	p.Val1361Ile	rs745498224	missense variant	-	NC_000007.14:g.142060332G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1363Met	rs1265060042	missense variant	-	NC_000007.14:g.142060338G>A	TOPMed
MGAM	O43451	p.Asn1364Ser	rs1452489820	missense variant	-	NC_000007.14:g.142060342A>G	TOPMed,gnomAD
MGAM	O43451	p.Ser1366Pro	rs1364466222	missense variant	-	NC_000007.14:g.142060347T>C	gnomAD
MGAM	O43451	p.Ser1366Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142060348C>T	NCI-TCGA
MGAM	O43451	p.Leu1367Val	rs769336095	missense variant	-	NC_000007.14:g.142060350C>G	ExAC,gnomAD
MGAM	O43451	p.Asp1368Gly	rs774923569	missense variant	-	NC_000007.14:g.142060354A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1369Ter	COSM3634732	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142060357G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Trp1369Ter	rs748855446	stop gained	-	NC_000007.14:g.142060358G>A	ExAC,gnomAD
MGAM	O43451	p.Trp1369Ter	rs748855446	stop gained	-	NC_000007.14:g.142060358G>A	NCI-TCGA
MGAM	O43451	p.Asp1370Asn	rs1442184812	missense variant	-	NC_000007.14:g.142060359G>A	gnomAD
MGAM	O43451	p.Ser1371Arg	rs774876509	missense variant	-	NC_000007.14:g.142060362A>C	ExAC,gnomAD
MGAM	O43451	p.Ser1371Arg	rs193144181	missense variant	-	NC_000007.14:g.142060364C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1371Asn	rs1440824754	missense variant	-	NC_000007.14:g.142060363G>A	gnomAD
MGAM	O43451	p.Ser1371Gly	rs774876509	missense variant	-	NC_000007.14:g.142060362A>G	ExAC,gnomAD
MGAM	O43451	p.Ser1371Asn	rs1440824754	missense variant	-	NC_000007.14:g.142060363G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gln1372Leu	rs202114402	missense variant	-	NC_000007.14:g.142060366A>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Gln1372Arg	rs202114402	missense variant	-	NC_000007.14:g.142060366A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Gln1372His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142060367A>T	NCI-TCGA
MGAM	O43451	p.Glu1374Gln	rs760880173	missense variant	-	NC_000007.14:g.142060371G>C	ExAC
MGAM	O43451	p.Glu1374Asp	rs1258623716	missense variant	-	NC_000007.14:g.142060373G>C	gnomAD
MGAM	O43451	p.Glu1374Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142060371G>T	NCI-TCGA
MGAM	O43451	p.Leu1375Pro	rs1475552510	missense variant	-	NC_000007.14:g.142062569T>C	TOPMed,gnomAD
MGAM	O43451	p.Leu1375Val	rs752830042	missense variant	-	NC_000007.14:g.142062568C>G	ExAC,gnomAD
MGAM	O43451	p.Tyr1376Cys	rs1190354995	missense variant	-	NC_000007.14:g.142062572A>G	TOPMed,gnomAD
MGAM	O43451	p.Arg1377Gln	rs750232138	missense variant	-	NC_000007.14:g.142062575G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1377Gly	rs761756111	missense variant	-	NC_000007.14:g.142062574C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1377Ter	rs761756111	stop gained	-	NC_000007.14:g.142062574C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1379Cys	rs1171554490	missense variant	-	NC_000007.14:g.142062581A>G	gnomAD
MGAM	O43451	p.Val1380Met	rs755905439	missense variant	-	NC_000007.14:g.142062583G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1381Asp	rs779656630	missense variant	-	NC_000007.14:g.142062587C>A	ExAC,gnomAD
MGAM	O43451	p.Pro1383Thr	rs1323169920	missense variant	-	NC_000007.14:g.142062592C>A	TOPMed
MGAM	O43451	p.Phe1385Ile	rs1307893524	missense variant	-	NC_000007.14:g.142062598T>A	gnomAD
MGAM	O43451	p.Phe1386Leu	rs1369437143	missense variant	-	NC_000007.14:g.142062603C>G	gnomAD
MGAM	O43451	p.Phe1386Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142062601T>G	NCI-TCGA
MGAM	O43451	p.Arg1387His	rs368560642	missense variant	-	NC_000007.14:g.142062605G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1387Cys	rs753437264	missense variant	-	NC_000007.14:g.142062604C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1387His	rs368560642	missense variant	-	NC_000007.14:g.142062605G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg1387Cys	rs753437264	missense variant	-	NC_000007.14:g.142062604C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Ser1389Pro	rs778323561	missense variant	-	NC_000007.14:g.142062610T>C	ExAC,gnomAD
MGAM	O43451	p.Ser1389Leu	rs1333106965	missense variant	-	NC_000007.14:g.142062611C>T	TOPMed
MGAM	O43451	p.Thr1390Asn	rs747625145	missense variant	-	NC_000007.14:g.142062614C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1390Ile	rs747625145	missense variant	-	NC_000007.14:g.142062614C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1391Ser	rs920313904	missense variant	-	NC_000007.14:g.142062616G>T	TOPMed
MGAM	O43451	p.Trp1393Cys	rs772618637	missense variant	-	NC_000007.14:g.142062624G>C	ExAC,gnomAD
MGAM	O43451	p.Trp1394Ter	rs778209488	stop gained	-	NC_000007.14:g.142062626G>A	ExAC,gnomAD
MGAM	O43451	p.Trp1394Cys	rs747366964	missense variant	-	NC_000007.14:g.142062627G>C	ExAC,gnomAD
MGAM	O43451	p.Arg1396Gly	rs771375074	missense variant	-	NC_000007.14:g.142062631A>G	ExAC,gnomAD
MGAM	O43451	p.Arg1396Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142062632G>A	NCI-TCGA
MGAM	O43451	p.Glu1397Lys	rs777169037	missense variant	-	NC_000007.14:g.142062634G>A	ExAC,gnomAD
MGAM	O43451	p.Glu1397Lys	rs777169037	missense variant	-	NC_000007.14:g.142062634G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Ile1398Val	rs759766160	missense variant	-	NC_000007.14:g.142062637A>G	ExAC,gnomAD
MGAM	O43451	p.Glu1399Lys	rs770154533	missense variant	-	NC_000007.14:g.142062640G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1403Lys	rs775629746	missense variant	-	NC_000007.14:g.142062654C>A	ExAC,gnomAD
MGAM	O43451	p.Asn1404Lys	COSM3634741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142062657T>A	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1405Ser	rs1168535978	missense variant	-	NC_000007.14:g.142062658C>T	TOPMed,gnomAD
MGAM	O43451	p.Gln1406Pro	rs763013854	missense variant	-	NC_000007.14:g.142062662A>C	ExAC,gnomAD
MGAM	O43451	p.Gln1406Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142062661C>T	NCI-TCGA
MGAM	O43451	p.Pro1408Ser	COSM3634744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142062667C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1408Gln	COSM6108824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142062668C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu1409Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142062672G>C	NCI-TCGA
MGAM	O43451	p.Ser1411Thr	rs1164378139	missense variant	-	NC_000007.14:g.142062677G>C	TOPMed
MGAM	O43451	p.Ser1411Gly	rs760625240	missense variant	-	NC_000007.14:g.142062676A>G	ExAC,gnomAD
MGAM	O43451	p.Phe1414Cys	COSM1086515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142062686T>G	NCI-TCGA Cosmic
MGAM	O43451	p.Phe1414Leu	rs372526101	missense variant	-	NC_000007.14:g.142062687T>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1415Gly	rs375424596	missense variant	-	NC_000007.14:g.142062689A>G	ESP,ExAC,gnomAD
MGAM	O43451	p.Asp1415Val	rs375424596	missense variant	-	NC_000007.14:g.142062689A>T	ESP,ExAC,gnomAD
MGAM	O43451	p.Asp1415Asn	rs754566813	missense variant	-	NC_000007.14:g.142062688G>A	ExAC,gnomAD
MGAM	O43451	p.Asp1415His	rs754566813	missense variant	-	NC_000007.14:g.142062688G>C	ExAC,gnomAD
MGAM	O43451	p.Gly1416Cys	rs1348494719	missense variant	-	NC_000007.14:g.142062691G>T	gnomAD
MGAM	O43451	p.Gly1416Cys	rs1348494719	missense variant	-	NC_000007.14:g.142062691G>T	NCI-TCGA
MGAM	O43451	p.Met1417Ile	rs777367415	missense variant	-	NC_000007.14:g.142062696G>A	ExAC,gnomAD
MGAM	O43451	p.Met1417Leu	rs1276609630	missense variant	-	NC_000007.14:g.142062694A>T	gnomAD
MGAM	O43451	p.Trp1418Cys	rs368030090	missense variant	-	NC_000007.14:g.142062699G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1420Asn	rs201271635	missense variant	-	NC_000007.14:g.142063499G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1420Gly	rs781782712	missense variant	-	NC_000007.14:g.142063500A>G	ExAC
MGAM	O43451	p.Asn1422Ser	rs746207317	missense variant	-	NC_000007.14:g.142063506A>G	ExAC,gnomAD
MGAM	O43451	p.Glu1423Ala	rs780492645	missense variant	-	NC_000007.14:g.142063509A>C	ExAC
MGAM	O43451	p.Glu1423Asp	rs749428982	missense variant	-	NC_000007.14:g.142063510A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1423Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142063508G>T	NCI-TCGA
MGAM	O43451	p.Glu1423Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142063508G>A	NCI-TCGA
MGAM	O43451	p.Pro1424Thr	rs185053832	missense variant	-	NC_000007.14:g.142063511C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1425Pro	rs748280923	missense variant	-	NC_000007.14:g.142063514T>C	ExAC,gnomAD
MGAM	O43451	p.Ser1425Leu	rs1394987514	missense variant	-	NC_000007.14:g.142063515C>T	gnomAD
MGAM	O43451	p.Ser1426Thr	rs770850136	missense variant	-	NC_000007.14:g.142063518G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1426Asn	rs770850136	missense variant	-	NC_000007.14:g.142063518G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1428Met	rs759302620	missense variant	-	NC_000007.14:g.142063523G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1429Ser	rs769438206	missense variant	-	NC_000007.14:g.142063527A>G	ExAC,gnomAD
MGAM	O43451	p.Gly1430Glu	rs1348650177	missense variant	-	NC_000007.14:g.142063530G>A	gnomAD
MGAM	O43451	p.Gly1430Glu	rs1348650177	missense variant	-	NC_000007.14:g.142063530G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ala1431Val	rs762455641	missense variant	-	NC_000007.14:g.142063533C>T	ExAC,gnomAD
MGAM	O43451	p.Ala1431Thr	rs775361719	missense variant	-	NC_000007.14:g.142063532G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1431Glu	rs762455641	missense variant	-	NC_000007.14:g.142063533C>A	ExAC,gnomAD
MGAM	O43451	p.Val1432Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142063536T>C	NCI-TCGA
MGAM	O43451	p.Pro1434Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142063542C>T	NCI-TCGA
MGAM	O43451	p.Gly1435Asp	rs751113499	missense variant	-	NC_000007.14:g.142063545G>A	ExAC,gnomAD
MGAM	O43451	p.Cys1436Tyr	rs761452877	missense variant	-	NC_000007.14:g.142063548G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys1436Phe	rs761452877	missense variant	-	NC_000007.14:g.142063548G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1437Gly	rs768118877	missense variant	-	NC_000007.14:g.142063550A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1438Gly	rs750914414	missense variant	-	NC_000007.14:g.142063554A>G	ExAC,gnomAD
MGAM	O43451	p.Asp1438Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142063553G>A	NCI-TCGA
MGAM	O43451	p.Ala1439Thr	rs1471303137	missense variant	-	NC_000007.14:g.142063556G>A	TOPMed,gnomAD
MGAM	O43451	p.His1443Tyr	rs755138331	missense variant	-	NC_000007.14:g.142063568C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1444Ala	rs779261743	missense variant	-	NC_000007.14:g.142063571C>G	ExAC,gnomAD
MGAM	O43451	p.Pro1444Ser	rs779261743	missense variant	-	NC_000007.14:g.142063571C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1445Leu	COSM3634753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142063575C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1445Thr	rs3087313	missense variant	-	NC_000007.14:g.142063574C>A	TOPMed,gnomAD
MGAM	O43451	p.Pro1445Ser	rs3087313	missense variant	-	NC_000007.14:g.142063574C>T	TOPMed,gnomAD
MGAM	O43451	p.Tyr1446Cys	rs772187068	missense variant	-	NC_000007.14:g.142063578A>G	ExAC,TOPMed
MGAM	O43451	p.Tyr1446Asn	rs748194894	missense variant	-	NC_000007.14:g.142063577T>A	ExAC,gnomAD
MGAM	O43451	p.Met1447Leu	rs950173354	missense variant	-	NC_000007.14:g.142063580A>T	TOPMed
MGAM	O43451	p.Pro1448Thr	rs1302619560	missense variant	-	NC_000007.14:g.142063583C>A	TOPMed
MGAM	O43451	p.His1449Asn	rs200751815	missense variant	-	NC_000007.14:g.142063586C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1449Arg	rs1379475063	missense variant	-	NC_000007.14:g.142064384A>G	gnomAD
MGAM	O43451	p.His1449Tyr	rs200751815	missense variant	-	NC_000007.14:g.142063586C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1450Met	COSM5081029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064386T>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu1451Gly	COSM4923662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064390A>G	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1454His	rs1318942215	missense variant	-	NC_000007.14:g.142064398G>C	gnomAD
MGAM	O43451	p.Arg1455Trp	rs768452325	missense variant	-	NC_000007.14:g.142064401A>T	ExAC,gnomAD
MGAM	O43451	p.Arg1455Ser	rs774321991	missense variant	-	NC_000007.14:g.142064403G>T	ExAC,gnomAD
MGAM	O43451	p.Leu1457Met	rs1230394650	missense variant	-	NC_000007.14:g.142064407C>A	TOPMed,gnomAD
MGAM	O43451	p.Ser1458Asn	rs747733522	missense variant	-	NC_000007.14:g.142064411G>A	ExAC,gnomAD
MGAM	O43451	p.Lys1460Met	rs375342862	missense variant	-	NC_000007.14:g.142064417A>T	ESP,TOPMed,gnomAD
MGAM	O43451	p.Lys1460Arg	rs375342862	missense variant	-	NC_000007.14:g.142064417A>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Leu1462Val	COSM1086527	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064422C>G	NCI-TCGA Cosmic
MGAM	O43451	p.Cys1463Tyr	rs1464238432	missense variant	-	NC_000007.14:g.142064426G>A	gnomAD
MGAM	O43451	p.Ser1466Thr	rs1431556174	missense variant	-	NC_000007.14:g.142064435G>C	TOPMed,gnomAD
MGAM	O43451	p.Gln1468His	COSM4843617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064442G>C	NCI-TCGA Cosmic
MGAM	O43451	p.Gln1468Glu	rs1198248687	missense variant	-	NC_000007.14:g.142064440C>G	TOPMed,gnomAD
MGAM	O43451	p.Leu1470Val	rs760296344	missense variant	-	NC_000007.14:g.142064446C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1470Ile	rs760296344	missense variant	-	NC_000007.14:g.142064446C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1470Ile	rs760296344	missense variant	-	NC_000007.14:g.142064446C>A	NCI-TCGA
MGAM	O43451	p.Pro1471Ser	rs766765023	missense variant	-	NC_000007.14:g.142064449C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1471Ser	rs766765023	missense variant	-	NC_000007.14:g.142064449C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Asp1472Glu	rs751737247	missense variant	-	NC_000007.14:g.142064454C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1472Glu	rs751737247	missense variant	-	NC_000007.14:g.142064454C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1473Cys	rs758607719	missense variant	-	NC_000007.14:g.142064455G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1473Ser	rs758607719	missense variant	-	NC_000007.14:g.142064455G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1474Pro	rs751562541	missense variant	-	NC_000007.14:g.142064458T>C	ExAC,gnomAD
MGAM	O43451	p.Leu1475Val	rs1300002442	missense variant	-	NC_000007.14:g.142064461C>G	gnomAD
MGAM	O43451	p.Leu1475Pro	rs3087318	missense variant	-	NC_000007.14:g.142064462T>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1477Ter	rs1229883769	stop gained	-	NC_000007.14:g.142064467C>T	gnomAD
MGAM	O43451	p.Gln1477Pro	rs1286016213	missense variant	-	NC_000007.14:g.142064468A>C	gnomAD
MGAM	O43451	p.His1478Gln	rs371707186	missense variant	-	NC_000007.14:g.142064472C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1478Gln	rs371707186	missense variant	-	NC_000007.14:g.142064472C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1481Leu	rs778789236	missense variant	-	NC_000007.14:g.142064479G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1481Leu	rs778789236	missense variant	-	NC_000007.14:g.142064479G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1481Met	rs778789236	missense variant	-	NC_000007.14:g.142064479G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1482Tyr	rs373961689	missense variant	-	NC_000007.14:g.142064482C>T	ESP,ExAC,gnomAD
MGAM	O43451	p.Tyr1485Ser	rs367916209	missense variant	-	NC_000007.14:g.142064492A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1485Cys	rs367916209	missense variant	-	NC_000007.14:g.142064492A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1487Leu	rs201310218	missense variant	-	NC_000007.14:g.142064498G>T	TOPMed,gnomAD
MGAM	O43451	p.Thr1490Ala	COSM1086535	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064506A>G	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1492Thr	COSM86801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142064512C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1492Leu	rs1342253497	missense variant	-	NC_000007.14:g.142064513C>T	gnomAD
MGAM	O43451	p.Pro1492Ser	rs1457842974	missense variant	-	NC_000007.14:g.142064512C>T	gnomAD
MGAM	O43451	p.Thr1493Arg	rs1299200485	missense variant	-	NC_000007.14:g.142064516C>G	gnomAD
MGAM	O43451	p.Glu1495Lys	rs374771873	missense variant	-	NC_000007.14:g.142064521G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1495Ter	rs374771873	stop gained	-	NC_000007.14:g.142064521G>T	NCI-TCGA
MGAM	O43451	p.Glu1495Ter	rs374771873	stop gained	-	NC_000007.14:g.142064521G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1496Thr	rs1011182409	missense variant	-	NC_000007.14:g.142065336G>A	TOPMed
MGAM	O43451	p.Val1497Leu	rs201533344	missense variant	-	NC_000007.14:g.142065339G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1497Met	rs201533344	missense variant	-	NC_000007.14:g.142065339G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1497Met	rs201533344	missense variant	-	NC_000007.14:g.142065339G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Gln1498Leu	COSM745273	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065343A>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gln1498His	rs780742115	missense variant	-	NC_000007.14:g.142065344G>C	ExAC,gnomAD
MGAM	O43451	p.Glu1499Lys	rs745451167	missense variant	-	NC_000007.14:g.142065345G>A	ExAC,gnomAD
MGAM	O43451	p.Glu1499Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142065347G>T	NCI-TCGA
MGAM	O43451	p.Thr1501Met	rs376131049	missense variant	-	NC_000007.14:g.142065352C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1503Leu	rs1431952081	missense variant	-	NC_000007.14:g.142065358A>T	TOPMed
MGAM	O43451	p.Arg1504Gln	rs374506553	missense variant	-	NC_000007.14:g.142065361G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1504Gln	rs374506553	missense variant	-	NC_000007.14:g.142065361G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg1504Ter	rs200390887	stop gained	-	NC_000007.14:g.142065360C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1505Trp	COSM1448740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065363G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gly1505Arg	rs774586942	missense variant	-	NC_000007.14:g.142065363G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1505Val	rs1414495073	missense variant	-	NC_000007.14:g.142065364G>T	TOPMed,gnomAD
MGAM	O43451	p.Gly1505Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142065364G>A	NCI-TCGA
MGAM	O43451	p.Val1507Ile	rs527929510	missense variant	-	NC_000007.14:g.142065369G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1507Ile	rs527929510	missense variant	-	NC_000007.14:g.142065369G>A	NCI-TCGA
MGAM	O43451	p.Ile1508Phe	rs767687937	missense variant	-	NC_000007.14:g.142065372A>T	NCI-TCGA
MGAM	O43451	p.Ile1508Phe	rs767687937	missense variant	-	NC_000007.14:g.142065372A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1508Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142065373T>A	NCI-TCGA
MGAM	O43451	p.Thr1509Asn	rs750509389	missense variant	-	NC_000007.14:g.142065376C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1509Ile	rs750509389	missense variant	-	NC_000007.14:g.142065376C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1510His	rs760340491	missense variant	-	NC_000007.14:g.142065379G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1510His	rs760340491	missense variant	-	NC_000007.14:g.142065379G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Arg1510Cys	rs760873437	missense variant	-	NC_000007.14:g.142065378C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1510Cys	rs760873437	missense variant	-	NC_000007.14:g.142065378C>T	NCI-TCGA
MGAM	O43451	p.Thr1512Ala	rs199508271	missense variant	-	NC_000007.14:g.142065384A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1512Pro	rs199508271	missense variant	-	NC_000007.14:g.142065384A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1514Ser	COSM3634765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065390C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1514Leu	rs777555213	missense variant	-	NC_000007.14:g.142065391C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1514Leu	rs777555213	missense variant	-	NC_000007.14:g.142065391C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Ser1515Cys	rs1311816325	missense variant	-	NC_000007.14:g.142065394C>G	gnomAD
MGAM	O43451	p.Ser1515Cys	rs1311816325	missense variant	-	NC_000007.14:g.142065394C>G	NCI-TCGA
MGAM	O43451	p.Gly1517Asp	COSM3634768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065400G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly1517Ser	rs1209535324	missense variant	-	NC_000007.14:g.142065399G>A	gnomAD
MGAM	O43451	p.Arg1518His	rs763981731	missense variant	-	NC_000007.14:g.142065403G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1518Cys	rs751370314	missense variant	-	NC_000007.14:g.142065402C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1518Leu	rs763981731	missense variant	-	NC_000007.14:g.142065403G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1518Cys	rs751370314	missense variant	-	NC_000007.14:g.142065402C>T	NCI-TCGA
MGAM	O43451	p.Trp1519Ter	rs1188514985	stop gained	-	NC_000007.14:g.142065407G>A	gnomAD
MGAM	O43451	p.Trp1519Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142065407G>C	NCI-TCGA
MGAM	O43451	p.Ala1520Pro	rs200663999	missense variant	-	NC_000007.14:g.142065408G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1520Val	rs972966549	missense variant	-	NC_000007.14:g.142065409C>T	TOPMed
MGAM	O43451	p.Gly1521Arg	COSM3634771	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142065411G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly1521Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142065412G>C	NCI-TCGA
MGAM	O43451	p.Trp1523Gly	rs745360965	missense variant	-	NC_000007.14:g.142065417T>G	ExAC,gnomAD
MGAM	O43451	p.Leu1524Pro	rs1192414161	missense variant	-	NC_000007.14:g.142065421T>C	gnomAD
MGAM	O43451	p.Gly1525Arg	rs918535669	missense variant	-	NC_000007.14:g.142065423G>C	TOPMed
MGAM	O43451	p.Gly1525Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142065423G>A	NCI-TCGA
MGAM	O43451	p.Asp1526Gly	rs1411889666	missense variant	-	NC_000007.14:g.142065427A>G	TOPMed
MGAM	O43451	p.Asp1526Glu	rs1159385818	missense variant	-	NC_000007.14:g.142065428C>A	gnomAD
MGAM	O43451	p.Asn1527Lys	rs779574602	missense variant	-	NC_000007.14:g.142065431C>A	ExAC,gnomAD
MGAM	O43451	p.Asn1527Ser	rs1390590692	missense variant	-	NC_000007.14:g.142065430A>G	gnomAD
MGAM	O43451	p.Thr1528Met	rs370790394	missense variant	-	NC_000007.14:g.142065433C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1528Arg	rs370790394	missense variant	-	NC_000007.14:g.142065433C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1529Asp	rs1456862416	missense variant	-	NC_000007.14:g.142065436C>A	TOPMed
MGAM	O43451	p.Ala1530Pro	rs772302459	missense variant	-	NC_000007.14:g.142065438G>C	ExAC,gnomAD
MGAM	O43451	p.Ala1530Thr	rs772302459	missense variant	-	NC_000007.14:g.142065438G>A	ExAC,gnomAD
MGAM	O43451	p.Trp1531Gly	rs1229276923	missense variant	-	NC_000007.14:g.142065441T>G	TOPMed,gnomAD
MGAM	O43451	p.Asp1532IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142065442G>-	NCI-TCGA
MGAM	O43451	p.Gln1533Ter	rs766526968	stop gained	-	NC_000007.14:g.142065447C>T	ExAC,gnomAD
MGAM	O43451	p.Lys1536Asn	rs1248970291	missense variant	-	NC_000007.14:g.142065458G>T	TOPMed
MGAM	O43451	p.Ser1537Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142065460C>T	NCI-TCGA
MGAM	O43451	p.Ile1538Val	rs1244283229	missense variant	-	NC_000007.14:g.142065462A>G	TOPMed,gnomAD
MGAM	O43451	p.Ile1539Thr	rs753970177	missense variant	-	NC_000007.14:g.142065466T>C	ExAC,gnomAD
MGAM	O43451	p.Met1541Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142094624G>A	NCI-TCGA
MGAM	O43451	p.Met1542Ile	COSM3922886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094627G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu1543Lys	COSM4396279	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094628G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu1543Asp	rs1473297774	missense variant	-	NC_000007.14:g.142094630G>T	gnomAD
MGAM	O43451	p.Phe1547Leu	rs114816880	missense variant	-	NC_000007.14:g.142094642C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1548Cys	rs371216137	missense variant	-	NC_000007.14:g.142094643G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1548Ser	rs371216137	missense variant	-	NC_000007.14:g.142094643G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1549Lys	rs1390349368	missense variant	-	NC_000007.14:g.142094647T>A	TOPMed
MGAM	O43451	p.Ser1550Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142094650C>A	NCI-TCGA
MGAM	O43451	p.Tyr1551Phe	rs202001107	missense variant	-	NC_000007.14:g.142094653A>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Tyr1551Ter	rs1347895137	stop gained	-	NC_000007.14:g.142094654T>G	gnomAD
MGAM	O43451	p.Thr1552Met	rs200383607	missense variant	-	NC_000007.14:g.142094748C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1552Arg	rs200383607	missense variant	-	NC_000007.14:g.142094748C>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1553Glu	rs375492601	missense variant	-	NC_000007.14:g.142094751G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1553Val	rs375492601	missense variant	-	NC_000007.14:g.142094751G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1554Thr	rs1312281493	missense variant	-	NC_000007.14:g.142094753G>A	gnomAD
MGAM	O43451	p.Asp1555Gly	rs768722066	missense variant	-	NC_000007.14:g.142094757A>G	ExAC,gnomAD
MGAM	O43451	p.Ile1556Thr	rs1240922992	missense variant	-	NC_000007.14:g.142094760T>C	TOPMed,gnomAD
MGAM	O43451	p.Ile1556Ser	rs1240922992	missense variant	-	NC_000007.14:g.142094760T>G	TOPMed,gnomAD
MGAM	O43451	p.Ile1556Asn	rs1240922992	missense variant	-	NC_000007.14:g.142094760T>A	TOPMed,gnomAD
MGAM	O43451	p.Gly1558Val	rs1366814643	missense variant	-	NC_000007.14:g.142094766G>T	gnomAD
MGAM	O43451	p.Phe1559Leu	rs1458846225	missense variant	-	NC_000007.14:g.142094770C>G	gnomAD
MGAM	O43451	p.Phe1560Ser	COSM4836994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094772T>C	NCI-TCGA Cosmic
MGAM	O43451	p.Phe1560Leu	rs1415686921	missense variant	-	NC_000007.14:g.142094771T>C	TOPMed
MGAM	O43451	p.Gln1561Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142094774C>T	NCI-TCGA
MGAM	O43451	p.Glu1564Ala	COSM262006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094784A>C	NCI-TCGA Cosmic
MGAM	O43451	p.Tyr1565Ter	rs7785793	stop gained	-	NC_000007.14:g.142094788T>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1566Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142094789G>A	NCI-TCGA
MGAM	O43451	p.Met1567Leu	rs973110017	missense variant	-	NC_000007.14:g.142094792A>T	TOPMed
MGAM	O43451	p.Met1567Ile	rs759358084	missense variant	-	NC_000007.14:g.142094794G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1569Ile	rs752366532	missense variant	-	NC_000007.14:g.142094798G>A	ExAC,gnomAD
MGAM	O43451	p.Arg1570His	rs777133943	missense variant	-	NC_000007.14:g.142094802G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1570Leu	rs777133943	missense variant	-	NC_000007.14:g.142094802G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1570Cys	rs267601326	missense variant	-	NC_000007.14:g.142094801C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1571Cys	rs1381335422	missense variant	-	NC_000007.14:g.142094806G>T	gnomAD
MGAM	O43451	p.Met1572Leu	rs1229199030	missense variant	-	NC_000007.14:g.142094807A>T	TOPMed
MGAM	O43451	p.Gln1573Leu	rs955618611	missense variant	-	NC_000007.14:g.142094811A>T	TOPMed
MGAM	O43451	p.Leu1574Pro	rs1329111535	missense variant	-	NC_000007.14:g.142094814T>C	TOPMed
MGAM	O43451	p.Gly1575Arg	rs537654353	missense variant	-	NC_000007.14:g.142094816G>A	gnomAD
MGAM	O43451	p.Gly1575Glu	rs756724019	missense variant	-	NC_000007.14:g.142094817G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1576Val	COSM3634780	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142094820C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ala1576Ser	rs1323046336	missense variant	-	NC_000007.14:g.142094819G>T	gnomAD
MGAM	O43451	p.Ala1576Asp	rs1363470476	missense variant	-	NC_000007.14:g.142094820C>A	gnomAD
MGAM	O43451	p.Phe1577Leu	rs781693630	missense variant	-	NC_000007.14:g.142094824T>G	ExAC,gnomAD
MGAM	O43451	p.Tyr1578His	rs369960214	missense variant	-	NC_000007.14:g.142094825T>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1579Ser	rs1370309555	missense variant	-	NC_000007.14:g.142094828C>T	gnomAD
MGAM	O43451	p.Pro1579Leu	rs1220493332	missense variant	-	NC_000007.14:g.142094829C>T	gnomAD
MGAM	O43451	p.Pro1579Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142094828C>A	NCI-TCGA
MGAM	O43451	p.His1584Gln	rs770118492	missense variant	-	NC_000007.14:g.142094845C>A	ExAC,gnomAD
MGAM	O43451	p.Thr1586Ala	rs749501771	missense variant	-	NC_000007.14:g.142094849A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1587Thr	rs541425081	missense variant	-	NC_000007.14:g.142094853T>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1588Ala	rs1311856968	missense variant	-	NC_000007.14:g.142094856G>C	TOPMed,gnomAD
MGAM	O43451	p.Thr1589Ile	rs866876882	missense variant	-	NC_000007.14:g.142094859C>T	gnomAD
MGAM	O43451	p.Thr1589Asn	rs866876882	missense variant	-	NC_000007.14:g.142094859C>A	gnomAD
MGAM	O43451	p.Arg1590Gly	rs774443126	missense variant	-	NC_000007.14:g.142094861A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1590Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142094862G>T	NCI-TCGA
MGAM	O43451	p.Gln1592Lys	rs369439250	missense variant	-	NC_000007.14:g.142095568C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1593His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142095571G>C	NCI-TCGA
MGAM	O43451	p.Pro1594His	COSM1086539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095575C>A	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1594Arg	rs779149190	missense variant	-	NC_000007.14:g.142095575C>G	ExAC,gnomAD
MGAM	O43451	p.Pro1594Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142095574C>T	NCI-TCGA
MGAM	O43451	p.Val1595Ala	rs1469799332	missense variant	-	NC_000007.14:g.142095578T>C	gnomAD
MGAM	O43451	p.Ser1596Phe	COSM4404602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095581C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1596Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142095581C>A	NCI-TCGA
MGAM	O43451	p.Trp1597Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142095584G>A	NCI-TCGA
MGAM	O43451	p.Asp1598Asn	rs1411517690	missense variant	-	NC_000007.14:g.142095586G>A	TOPMed
MGAM	O43451	p.Val1599Ala	rs1473636948	missense variant	-	NC_000007.14:g.142095590T>C	TOPMed,gnomAD
MGAM	O43451	p.Ala1600Val	rs373607967	missense variant	-	NC_000007.14:g.142095593C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1603Ser	rs377447787	missense variant	-	NC_000007.14:g.142095602A>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Ile1604Val	rs112671793	missense variant	-	NC_000007.14:g.142095604A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1605Phe	COSM3634783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095608C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Ser1605Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142095608C>A	NCI-TCGA
MGAM	O43451	p.Thr1607Asn	rs1486005404	missense variant	-	NC_000007.14:g.142095614C>A	TOPMed
MGAM	O43451	p.Val1608Ile	rs773232506	missense variant	-	NC_000007.14:g.142095616G>A	ExAC,TOPMed
MGAM	O43451	p.Val1608Phe	rs773232506	missense variant	-	NC_000007.14:g.142095616G>T	ExAC,TOPMed
MGAM	O43451	p.Gln1610Ter	rs1228058876	stop gained	-	NC_000007.14:g.142095622C>T	TOPMed
MGAM	O43451	p.Gln1610His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142095624G>C	NCI-TCGA
MGAM	O43451	p.Thr1611Ile	rs769796064	missense variant	-	NC_000007.14:g.142095626C>T	ExAC,gnomAD
MGAM	O43451	p.Thr1611Ala	rs745786941	missense variant	-	NC_000007.14:g.142095625A>G	ExAC,gnomAD
MGAM	O43451	p.Arg1612Thr	rs1237869963	missense variant	-	NC_000007.14:g.142095629G>C	TOPMed,gnomAD
MGAM	O43451	p.Thr1614Ser	rs1349329827	missense variant	-	NC_000007.14:g.142095635C>G	TOPMed
MGAM	O43451	p.Pro1617Leu	rs1483325255	missense variant	-	NC_000007.14:g.142095644C>T	gnomAD
MGAM	O43451	p.Tyr1618Cys	rs1248493518	missense variant	-	NC_000007.14:g.142095647A>G	TOPMed,gnomAD
MGAM	O43451	p.Thr1621Ile	COSM3634786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095656C>T	NCI-TCGA Cosmic
MGAM	O43451	p.His1624Arg	rs200697908	missense variant	-	NC_000007.14:g.142095665A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.His1624Gln	rs147084365	missense variant	-	NC_000007.14:g.142095666T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1628Arg	rs138571855	missense variant	-	NC_000007.14:g.142095677C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1628Met	rs138571855	missense variant	-	NC_000007.14:g.142095677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1630Val	rs1169212180	missense variant	-	NC_000007.14:g.142095683G>T	TOPMed,gnomAD
MGAM	O43451	p.Val1631Ile	rs374392165	missense variant	-	NC_000007.14:g.142095685G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1631Asp	rs1467374902	missense variant	-	NC_000007.14:g.142095686T>A	TOPMed
MGAM	O43451	p.Thr1632Asn	rs1275671832	missense variant	-	NC_000007.14:g.142095689C>A	TOPMed
MGAM	O43451	p.Val1633Ile	rs1234401612	missense variant	-	NC_000007.14:g.142095691G>A	TOPMed
MGAM	O43451	p.Val1634Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142095694G>A	NCI-TCGA
MGAM	O43451	p.Arg1635Trp	rs868391857	missense variant	-	NC_000007.14:g.142095697C>T	gnomAD
MGAM	O43451	p.Arg1635Gln	rs779185299	missense variant	-	NC_000007.14:g.142095698G>A	ExAC,gnomAD
MGAM	O43451	p.Leu1638Val	rs9655651	missense variant	-	NC_000007.14:g.142095706C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1638Ile	rs9655651	missense variant	-	NC_000007.14:g.142095706C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1638Phe	rs9655651	missense variant	-	NC_000007.14:g.142095706C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1639Leu	rs758605204	missense variant	-	NC_000007.14:g.142095710A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1639Arg	rs758605204	missense variant	-	NC_000007.14:g.142095710A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1639Gln	rs374054208	missense variant	-	NC_000007.14:g.142095711T>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1640Gln	COSM1488304	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142095712G>C	NCI-TCGA Cosmic
MGAM	O43451	p.Glu1640Ter	rs1338842955	stop gained	-	NC_000007.14:g.142095712G>T	gnomAD
MGAM	O43451	p.Glu1640Asp	rs6975672	missense variant	-	NC_000007.14:g.142096331G>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1643Ter	rs778917542	stop gained	-	NC_000007.14:g.142096339C>A	ExAC,gnomAD
MGAM	O43451	p.Asp1644Asn	COSM3634789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142096341G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1644Glu	rs747859867	missense variant	-	NC_000007.14:g.142096343C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1645Lys	rs771880163	missense variant	-	NC_000007.14:g.142096344C>A	ExAC,gnomAD
MGAM	O43451	p.Gln1645Ter	rs771880163	stop gained	-	NC_000007.14:g.142096344C>T	ExAC,gnomAD
MGAM	O43451	p.Val1646Leu	rs1384234585	missense variant	-	NC_000007.14:g.142096347G>T	gnomAD
MGAM	O43451	p.Val1646Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142096347G>A	NCI-TCGA
MGAM	O43451	p.Thr1647Ser	rs372791404	missense variant	-	NC_000007.14:g.142096350A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1647Ala	rs372791404	missense variant	-	NC_000007.14:g.142096350A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1648Gly	rs202121935	missense variant	-	NC_000007.14:g.142096353T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1650Thr	rs1289251193	missense variant	-	NC_000007.14:g.142096360T>C	gnomAD
MGAM	O43451	p.Ile1650Leu	rs770423213	missense variant	-	NC_000007.14:g.142096359A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1650Val	rs770423213	missense variant	-	NC_000007.14:g.142096359A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1650ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142096359_142096360AT>-	NCI-TCGA
MGAM	O43451	p.Asp1651Gly	rs776176991	missense variant	-	NC_000007.14:g.142096363A>G	ExAC,gnomAD
MGAM	O43451	p.Asp1651Glu	rs759098687	missense variant	-	NC_000007.14:g.142096364C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1657Ser	rs1260492875	missense variant	-	NC_000007.14:g.142096380G>A	gnomAD
MGAM	O43451	p.Gly1657Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142096380G>C	NCI-TCGA
MGAM	O43451	p.Ala1659Val	rs753276772	missense variant	-	NC_000007.14:g.142096387C>T	ExAC,gnomAD
MGAM	O43451	p.Ala1659Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142096387C>A	NCI-TCGA
MGAM	O43451	p.Phe1660Cys	rs764599561	missense variant	-	NC_000007.14:g.142096390T>G	ExAC,gnomAD
MGAM	O43451	p.Leu1661Pro	rs570362335	missense variant	-	NC_000007.14:g.142096393T>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Val1662Ala	rs1435181435	missense variant	-	NC_000007.14:g.142096396T>C	TOPMed
MGAM	O43451	p.Val1662Ile	rs757615356	missense variant	-	NC_000007.14:g.142096395G>A	ExAC,gnomAD
MGAM	O43451	p.Ser1663Asn	rs1418495156	missense variant	-	NC_000007.14:g.142096399G>A	TOPMed
MGAM	O43451	p.Pro1664Ser	rs767688894	missense variant	-	NC_000007.14:g.142096401C>T	ExAC
MGAM	O43451	p.Glu1667Lys	rs1166141039	missense variant	-	NC_000007.14:g.142096410G>A	TOPMed
MGAM	O43451	p.Arg1668Cys	rs750406655	missense variant	-	NC_000007.14:g.142096413C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1668His	rs369519766	missense variant	-	NC_000007.14:g.142096414G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1669His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142097593A>C	NCI-TCGA
MGAM	O43451	p.Asn1672Thr	rs769224377	missense variant	-	NC_000007.14:g.142097603A>C	ExAC,gnomAD
MGAM	O43451	p.Val1673Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142097606T>C	NCI-TCGA
MGAM	O43451	p.Ala1675Thr	rs775412511	missense variant	-	NC_000007.14:g.142097611G>A	gnomAD
MGAM	O43451	p.Tyr1676Cys	rs1169792735	missense variant	-	NC_000007.14:g.142097615A>G	gnomAD
MGAM	O43451	p.Pro1678Ala	rs1477819896	missense variant	-	NC_000007.14:g.142097620C>G	gnomAD
MGAM	O43451	p.Pro1678His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142097621C>A	NCI-TCGA
MGAM	O43451	p.Arg1679Lys	rs369025335	missense variant	-	NC_000007.14:g.142097624G>A	ESP,TOPMed
MGAM	O43451	p.Ala1680Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142097627C>T	NCI-TCGA
MGAM	O43451	p.Arg1681His	rs528091576	missense variant	-	NC_000007.14:g.142097630G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Arg1681Cys	rs773279743	missense variant	-	NC_000007.14:g.142097629C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1682Cys	rs766355982	missense variant	-	NC_000007.14:g.142097634G>T	ExAC,gnomAD
MGAM	O43451	p.Tyr1683Cys	rs753899293	missense variant	-	NC_000007.14:g.142097636A>G	ExAC,gnomAD
MGAM	O43451	p.Asp1684Asn	COSM3634804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142097638G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1684Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142097640T>G	NCI-TCGA
MGAM	O43451	p.Tyr1685Cys	rs763977407	missense variant	-	NC_000007.14:g.142097642A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1686Phe	COSM6176372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142097645A>T	NCI-TCGA Cosmic
MGAM	O43451	p.Thr1687Met	rs757023946	missense variant	-	NC_000007.14:g.142097648C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1688Ser	rs373813573	missense variant	-	NC_000007.14:g.142099613G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1688Val	rs769858990	missense variant	-	NC_000007.14:g.142099614G>T	ExAC
MGAM	O43451	p.Gly1688Cys	rs373813573	missense variant	-	NC_000007.14:g.142099613G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1689Leu	rs775600653	missense variant	-	NC_000007.14:g.142099616G>T	ExAC,gnomAD
MGAM	O43451	p.Val1689Met	rs775600653	missense variant	-	NC_000007.14:g.142099616G>A	ExAC,gnomAD
MGAM	O43451	p.Asp1690Asn	COSM3634810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099619G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Ile1691Val	rs1348301097	missense variant	-	NC_000007.14:g.142099622A>G	gnomAD
MGAM	O43451	p.Asn1692Ser	rs369802718	missense variant	-	NC_000007.14:g.142099626A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1694Ser	rs773052362	missense variant	-	NC_000007.14:g.142099633A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1694Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142099632G>A	NCI-TCGA
MGAM	O43451	p.Gly1695Glu	COSM3634816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099635G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly1695Arg	COSM3634813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099634G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu1696Ter	rs1268266008	stop gained	-	NC_000007.14:g.142099637G>T	gnomAD
MGAM	O43451	p.Trp1697Arg	rs766319661	missense variant	-	NC_000007.14:g.142099640T>C	ExAC,gnomAD
MGAM	O43451	p.Lys1698Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142099644A>G	NCI-TCGA
MGAM	O43451	p.Thr1699Ser	rs753541014	missense variant	-	NC_000007.14:g.142099647C>G	ExAC,gnomAD
MGAM	O43451	p.Leu1700Met	COSM3634819	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099649T>A	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1701Ala	COSM3634822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099652C>G	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1701Thr	rs367621700	missense variant	-	NC_000007.14:g.142099652C>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Pro1701Ser	rs367621700	missense variant	-	NC_000007.14:g.142099652C>T	ESP,ExAC,gnomAD
MGAM	O43451	p.Pro1701Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142099653C>A	NCI-TCGA
MGAM	O43451	p.Ala1702Ser	rs764995959	missense variant	-	NC_000007.14:g.142099655G>T	ExAC,gnomAD
MGAM	O43451	p.Pro1703Ser	COSM3634825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099658C>T	NCI-TCGA Cosmic
MGAM	O43451	p.His1706Arg	rs757879351	missense variant	-	NC_000007.14:g.142099668A>G	ExAC,gnomAD
MGAM	O43451	p.His1706Gln	rs1423281408	missense variant	-	NC_000007.14:g.142099669C>G	TOPMed,gnomAD
MGAM	O43451	p.Ile1707Val	rs1012748763	missense variant	-	NC_000007.14:g.142099670A>G	TOPMed
MGAM	O43451	p.Asn1708Ser	rs1385757479	missense variant	-	NC_000007.14:g.142099674A>G	TOPMed
MGAM	O43451	p.Leu1709Pro	rs778292072	missense variant	-	NC_000007.14:g.142099677T>C	ExAC,gnomAD
MGAM	O43451	p.His1710Tyr	COSM2862584	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099679C>T	NCI-TCGA Cosmic
MGAM	O43451	p.His1710Pro	rs747517001	missense variant	-	NC_000007.14:g.142099680A>C	ExAC,gnomAD
MGAM	O43451	p.Arg1712Leu	rs781602751	missense variant	-	NC_000007.14:g.142099686G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1712Cys	rs372412602	missense variant	-	NC_000007.14:g.142099685C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1712His	rs781602751	missense variant	-	NC_000007.14:g.142099686G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1712Pro	rs781602751	missense variant	-	NC_000007.14:g.142099686G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1713Trp	rs775690591	missense variant	-	NC_000007.14:g.142099688G>T	ExAC,gnomAD
MGAM	O43451	p.Gly1713Arg	rs775690591	missense variant	-	NC_000007.14:g.142099688G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1714Asp	rs1441268914	missense variant	-	NC_000007.14:g.142099692G>A	gnomAD
MGAM	O43451	p.Gly1714Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142099691G>A	NCI-TCGA
MGAM	O43451	p.Ile1716Val	rs1179177926	missense variant	-	NC_000007.14:g.142099697A>G	TOPMed
MGAM	O43451	p.Ile1716Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142099697A>T	NCI-TCGA
MGAM	O43451	p.Pro1718Leu	rs768669879	missense variant	-	NC_000007.14:g.142099704C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1718Arg	rs768669879	missense variant	-	NC_000007.14:g.142099704C>G	ExAC,gnomAD
MGAM	O43451	p.Trp1719Cys	rs1243689919	missense variant	-	NC_000007.14:g.142099708G>T	gnomAD
MGAM	O43451	p.Trp1719Leu	COSM1448752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099707G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Trp1719Arg	rs1481061198	missense variant	-	NC_000007.14:g.142099706T>C	TOPMed
MGAM	O43451	p.Glu1721Lys	COSM3634828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099712G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Glu1721Gln	rs773173503	missense variant	-	NC_000007.14:g.142099712G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1722Thr	rs760600176	missense variant	-	NC_000007.14:g.142099715C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1722Ser	rs760600176	missense variant	-	NC_000007.14:g.142099715C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1726Asn	rs1197591109	missense variant	-	NC_000007.14:g.142099728C>A	gnomAD
MGAM	O43451	p.His1727Pro	COSM205356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142099731A>C	NCI-TCGA Cosmic
MGAM	O43451	p.Leu1728Phe	rs561976926	missense variant	-	NC_000007.14:g.142099735A>C	1000Genomes,TOPMed
MGAM	O43451	p.Ser1729Asn	rs766266700	missense variant	-	NC_000007.14:g.142099737G>A	ExAC,gnomAD
MGAM	O43451	p.Arg1730His	rs200582702	missense variant	-	NC_000007.14:g.142100804G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1730Cys	rs762579452	missense variant	-	NC_000007.14:g.142100803C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1732Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142100809A>G	NCI-TCGA
MGAM	O43451	p.Phe1733Leu	rs576684251	missense variant	-	NC_000007.14:g.142100814C>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Met1734Ile	rs1302024549	missense variant	-	NC_000007.14:g.142100817G>A	gnomAD
MGAM	O43451	p.Met1734Thr	rs1468076892	missense variant	-	NC_000007.14:g.142100816T>C	gnomAD
MGAM	O43451	p.Gly1735Asp	rs1385657483	missense variant	-	NC_000007.14:g.142100819G>A	gnomAD
MGAM	O43451	p.Phe1736Ser	COSM3634833	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142100822T>C	NCI-TCGA Cosmic
MGAM	O43451	p.Ala1739Ser	rs1383850235	missense variant	-	NC_000007.14:g.142100830G>T	gnomAD
MGAM	O43451	p.Leu1740Val	rs767969164	missense variant	-	NC_000007.14:g.142100833T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1740Ser	rs756442085	missense variant	-	NC_000007.14:g.142100834T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1741Gly	rs1165508895	missense variant	-	NC_000007.14:g.142100837A>G	TOPMed
MGAM	O43451	p.Asp1741Val	rs1165508895	missense variant	-	NC_000007.14:g.142100837A>T	TOPMed
MGAM	O43451	p.Asp1742Val	rs1406058828	missense variant	-	NC_000007.14:g.142100840A>T	TOPMed
MGAM	O43451	p.Gly1744Val	rs780353179	missense variant	-	NC_000007.14:g.142100846G>T	ExAC,gnomAD
MGAM	O43451	p.Gly1744Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142100845G>T	NCI-TCGA
MGAM	O43451	p.Ala1746Val	rs754082053	missense variant	-	NC_000007.14:g.142100852C>T	ExAC,gnomAD
MGAM	O43451	p.Gly1747Arg	rs768304137	missense variant	-	NC_000007.14:g.142100854G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1747Arg	rs768304137	missense variant	-	NC_000007.14:g.142100854G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1748Cys	rs1261672574	missense variant	-	NC_000007.14:g.142100857G>T	TOPMed,gnomAD
MGAM	O43451	p.Gly1748AlaPheSerTerUnkUnk	rs765764785	frameshift	-	NC_000007.14:g.142100854G>-	NCI-TCGA
MGAM	O43451	p.Asp1753Val	rs1203911144	missense variant	-	NC_000007.14:g.142100873A>T	gnomAD
MGAM	O43451	p.Asp1754Asn	rs779200546	missense variant	-	NC_000007.14:g.142100875G>A	ExAC,gnomAD
MGAM	O43451	p.Asp1754Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142100877T>G	NCI-TCGA
MGAM	O43451	p.Gly1755Trp	COSM599538	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142100878G>T	NCI-TCGA Cosmic
MGAM	O43451	p.Gln1756Lys	rs1199471996	missense variant	-	NC_000007.14:g.142100881C>A	gnomAD
MGAM	O43451	p.Ser1757Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142100885G>A	NCI-TCGA
MGAM	O43451	p.Ile1758Thr	rs748138224	missense variant	-	NC_000007.14:g.142100888T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1759Val	rs778953832	missense variant	-	NC_000007.14:g.142102630A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1760Asn	rs1298788744	missense variant	-	NC_000007.14:g.142102633C>A	gnomAD
MGAM	O43451	p.Thr1760Ala	rs1206987147	missense variant	-	NC_000007.14:g.142102632A>G	TOPMed
MGAM	O43451	p.Tyr1761Asp	COSM452502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142102635T>G	NCI-TCGA Cosmic
MGAM	O43451	p.Tyr1761His	rs1390119294	missense variant	-	NC_000007.14:g.142102635T>C	gnomAD
MGAM	O43451	p.Tyr1761Cys	rs778065310	missense variant	-	NC_000007.14:g.142102636A>G	ExAC,gnomAD
MGAM	O43451	p.Tyr1761Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142102636A>T	NCI-TCGA
MGAM	O43451	p.Gly1762Glu	rs868728160	missense variant	-	NC_000007.14:g.142102639G>A	TOPMed
MGAM	O43451	p.Gly1764Glu	COSM3634839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142102645G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Gly1764Arg	rs769559638	missense variant	-	NC_000007.14:g.142102644G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1764Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142102644G>T	NCI-TCGA
MGAM	O43451	p.Tyr1766Cys	rs1290111282	missense variant	-	NC_000007.14:g.142102651A>G	TOPMed,gnomAD
MGAM	O43451	p.Ala1769Gly	rs377502170	missense variant	-	NC_000007.14:g.142102660C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1769Ser	rs768515846	missense variant	-	NC_000007.14:g.142102659G>T	ExAC,gnomAD
MGAM	O43451	p.Ala1769Val	rs377502170	missense variant	-	NC_000007.14:g.142102660C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1769Thr	rs768515846	missense variant	-	NC_000007.14:g.142102659G>A	ExAC,gnomAD
MGAM	O43451	p.Ser1770Asn	rs771561286	missense variant	-	NC_000007.14:g.142102663G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe1771Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142102667T>A	NCI-TCGA
MGAM	O43451	p.Ala1773Ser	rs1237492601	missense variant	-	NC_000007.14:g.142102671G>T	gnomAD
MGAM	O43451	p.Gln1775His	rs772655841	missense variant	-	NC_000007.14:g.142102679G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1777Ala	rs569263215	missense variant	-	NC_000007.14:g.142103272A>G	1000Genomes,gnomAD
MGAM	O43451	p.Thr1777Met	rs778740556	missense variant	-	NC_000007.14:g.142103273C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Thr1777Met	rs778740556	missense variant	-	NC_000007.14:g.142103273C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1778Thr	rs116770864	missense variant	-	NC_000007.14:g.142103276T>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1778Leu	rs771649432	missense variant	-	NC_000007.14:g.142103275A>C	ExAC,gnomAD
MGAM	O43451	p.Ser1780Asn	rs1045545389	missense variant	-	NC_000007.14:g.142103282G>A	TOPMed,gnomAD
MGAM	O43451	p.His1781Tyr	rs1430116455	missense variant	-	NC_000007.14:g.142103284C>T	TOPMed,gnomAD
MGAM	O43451	p.His1781Arg	rs746455967	missense variant	-	NC_000007.14:g.142103285A>G	ExAC,gnomAD
MGAM	O43451	p.Ile1782Met	rs1335338094	missense variant	-	NC_000007.14:g.142103289A>G	gnomAD
MGAM	O43451	p.Ile1783Val	rs140217455	missense variant	-	NC_000007.14:g.142103290A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1783Thr	rs776974464	missense variant	-	NC_000007.14:g.142103291T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1785Ile	COSM3878858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142103297A>T	NCI-TCGA Cosmic
MGAM	O43451	p.Tyr1787Phe	rs1001623928	missense variant	-	NC_000007.14:g.142103303A>T	TOPMed
MGAM	O43451	p.Tyr1787Ter	rs777914137	stop gained	-	NC_000007.14:g.142103303dup	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1790Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142103311G>T	NCI-TCGA
MGAM	O43451	p.Gly1790Asp	rs1324902772	missense variant	-	NC_000007.14:g.142103312G>A	TOPMed
MGAM	O43451	p.Thr1791Ala	rs760153555	missense variant	-	NC_000007.14:g.142103314A>G	ExAC,gnomAD
MGAM	O43451	p.Asn1792Asp	rs1298258349	missense variant	-	NC_000007.14:g.142103317A>G	TOPMed
MGAM	O43451	p.Asn1792His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142103317A>C	NCI-TCGA
MGAM	O43451	p.Pro1793Leu	COSM5915680	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142103321C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1793Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142103320C>T	NCI-TCGA
MGAM	O43451	p.Leu1794Ser	rs201177568	missense variant	-	NC_000007.14:g.142103324T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1794Phe	rs1276420880	missense variant	-	NC_000007.14:g.142103325G>C	gnomAD
MGAM	O43451	p.Leu1796Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142103330T>G	NCI-TCGA
MGAM	O43451	p.Ile1799Leu	rs1311599602	missense variant	-	NC_000007.14:g.142103338A>C	gnomAD
MGAM	O43451	p.Ile1799Thr	rs763414236	missense variant	-	NC_000007.14:g.142103339T>C	ExAC,gnomAD
MGAM	O43451	p.Ile1799Val	rs1311599602	missense variant	-	NC_000007.14:g.142103338A>G	gnomAD
MGAM	O43451	p.Ile1799Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142103339T>A	NCI-TCGA
MGAM	O43451	p.Glu1800Lys	rs267601328	missense variant	-	NC_000007.14:g.142103341G>A	-
MGAM	O43451	p.Glu1800Lys	rs267601328	missense variant	-	NC_000007.14:g.142103341G>A	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Ile1801Val	rs534879249	missense variant	-	NC_000007.14:g.142103344A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Trp1802Ter	COSM1165512	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.142103348G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Trp1802Cys	rs760283646	missense variant	-	NC_000007.14:g.142103349G>T	TOPMed,gnomAD
MGAM	O43451	p.Trp1802Leu	rs373562174	missense variant	-	NC_000007.14:g.142103348G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1802Ter	rs760283646	stop gained	-	NC_000007.14:g.142103349G>A	TOPMed,gnomAD
MGAM	O43451	p.Trp1802Ter	rs760283646	stop gained	-	NC_000007.14:g.142103349G>A	NCI-TCGA
MGAM	O43451	p.Trp1802Ser	rs373562174	missense variant	-	NC_000007.14:g.142103348G>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1804Leu	rs753708990	missense variant	-	NC_000007.14:g.142103353G>C	ExAC,gnomAD
MGAM	O43451	p.Val1804Ala	rs1375578885	missense variant	-	NC_000007.14:g.142103354T>C	TOPMed
MGAM	O43451	p.Val1804Leu	rs753708990	missense variant	-	NC_000007.14:g.142103353G>T	ExAC,gnomAD
MGAM	O43451	p.Gly1805Asp	rs754889220	missense variant	-	NC_000007.14:g.142103357G>A	ExAC,gnomAD
MGAM	O43451	p.Ser1806Asn	rs553324420	missense variant	-	NC_000007.14:g.142103360G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1806Gly	rs368559734	missense variant	-	NC_000007.14:g.142103359A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1807Asp	rs533087957	missense variant	-	NC_000007.14:g.142103363T>A	gnomAD
MGAM	O43451	p.Val1807Ala	rs533087957	missense variant	-	NC_000007.14:g.142103363T>C	gnomAD
MGAM	O43451	p.Pro1808Leu	COSM3634842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142103366C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1808Ser	rs1374422639	missense variant	-	NC_000007.14:g.142103365C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1808Ser	rs1374422639	missense variant	-	NC_000007.14:g.142103365C>T	TOPMed
MGAM	O43451	p.Val1809Ile	rs200374214	missense variant	-	NC_000007.14:g.142103368G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1812Phe	rs1253360261	missense variant	-	NC_000007.14:g.142103377G>T	gnomAD
MGAM	O43451	p.Ser1815Pro	rs745381940	missense variant	-	NC_000007.14:g.142103386T>C	ExAC,gnomAD
MGAM	O43451	p.Val1816Met	rs770357204	missense variant	-	NC_000007.14:g.142103389G>A	ExAC,gnomAD
MGAM	O43451	p.Val1816Met	rs770357204	missense variant	-	NC_000007.14:g.142103389G>A	NCI-TCGA
MGAM	O43451	p.Ser1817Gly	rs776172168	missense variant	-	NC_000007.14:g.142103392A>G	ExAC,gnomAD
MGAM	O43451	p.Ser1817Asn	rs1286033944	missense variant	-	NC_000007.14:g.142103393G>A	gnomAD
MGAM	O43451	p.Met1819Arg	rs763356519	missense variant	-	NC_000007.14:g.142103399T>G	ExAC,gnomAD
MGAM	O43451	p.Val1820Ile	rs1216085434	missense variant	-	NC_000007.14:g.142103401G>A	gnomAD
MGAM	O43451	p.Val1820Ala	rs1292781222	missense variant	-	NC_000007.14:g.142103402T>C	gnomAD
MGAM	O43451	p.Thr1822Arg	rs769189278	missense variant	-	NC_000007.14:g.142103408C>G	ExAC,gnomAD
MGAM	O43451	p.Pro1823Ser	COSM3922889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142103410C>T	NCI-TCGA Cosmic
MGAM	O43451	p.Pro1823Leu	rs528761990	missense variant	-	NC_000007.14:g.142103411C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1824Phe	rs762160028	missense variant	-	NC_000007.14:g.142103414C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1824Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142103414C>G	NCI-TCGA
MGAM	O43451	p.Asn1826Ser	rs767649344	missense variant	-	NC_000007.14:g.142103420A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1826Asp	rs966346783	missense variant	-	NC_000007.14:g.142103419A>G	TOPMed,gnomAD
MGAM	O43451	p.Asn1827Ser	rs1180682458	missense variant	-	NC_000007.14:g.142103423A>G	gnomAD
MGAM	O43451	p.Asn1827Asp	rs1179488617	missense variant	-	NC_000007.14:g.142103422A>G	gnomAD
MGAM	O43451	p.Pro1829Leu	rs189060335	missense variant	-	NC_000007.14:g.142103429C>T	1000Genomes,gnomAD
MGAM	O43451	p.Pro1829Arg	rs189060335	missense variant	-	NC_000007.14:g.142103429C>G	1000Genomes,gnomAD
MGAM	O43451	p.Pro1829SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142103427_142103428insAG	NCI-TCGA
MGAM	O43451	p.Thr1830Ala	rs750453309	missense variant	-	NC_000007.14:g.142103431A>G	ExAC,gnomAD
MGAM	O43451	p.Thr1830Ser	rs750453309	missense variant	-	NC_000007.14:g.142103431A>T	ExAC,gnomAD
MGAM	O43451	p.Thr1830Met	rs538845634	missense variant	-	NC_000007.14:g.142103432C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1831Ala	rs1337461713	missense variant	-	NC_000007.14:g.142103434A>G	TOPMed
MGAM	O43451	p.Gln1832His	rs1028696645	missense variant	-	NC_000007.14:g.142103439G>T	TOPMed,gnomAD
MGAM	O43451	p.Gln1832Arg	rs200238903	missense variant	-	NC_000007.14:g.142103438A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1834Val	rs1367522321	missense variant	-	NC_000007.14:g.142105817T>G	TOPMed,gnomAD
MGAM	O43451	p.Asp1837His	COSM6108818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142105826G>C	NCI-TCGA Cosmic
MGAM	O43451	p.Asp1837Asn	rs1276639282	missense variant	-	NC_000007.14:g.142105826G>A	TOPMed,gnomAD
MGAM	O43451	p.Asp1837Asn	rs1276639282	missense variant	-	NC_000007.14:g.142105826G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Val1838Ala	rs1172157932	missense variant	-	NC_000007.14:g.142105830T>C	gnomAD
MGAM	O43451	p.Thr1839Ser	rs200216128	missense variant	-	NC_000007.14:g.142105832A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1840Glu	rs1404005252	missense variant	-	NC_000007.14:g.142105837C>G	gnomAD
MGAM	O43451	p.Asp1840Asn	rs1464994716	missense variant	-	NC_000007.14:g.142105835G>A	TOPMed,gnomAD
MGAM	O43451	p.Asp1840Asn	rs1464994716	missense variant	-	NC_000007.14:g.142105835G>A	NCI-TCGA
MGAM	O43451	p.Asp1840His	rs1464994716	missense variant	-	NC_000007.14:g.142105835G>C	TOPMed,gnomAD
MGAM	O43451	p.Asp1840Gly	rs779320204	missense variant	-	NC_000007.14:g.142105836A>G	ExAC,gnomAD
MGAM	O43451	p.Arg1841Lys	COSM2862632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142105839G>A	NCI-TCGA Cosmic
MGAM	O43451	p.Asn1842Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142105841A>T	NCI-TCGA
MGAM	O43451	p.Ser1844Gly	rs1394063676	missense variant	-	NC_000007.14:g.142105847A>G	gnomAD
MGAM	O43451	p.Ser1844Asn	rs748497040	missense variant	-	NC_000007.14:g.142105848G>A	ExAC,gnomAD
MGAM	O43451	p.His1846Leu	rs1483119312	missense variant	-	NC_000007.14:g.142105854A>T	TOPMed,gnomAD
MGAM	O43451	p.Asn1847Thr	COSM3922892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142105857A>C	NCI-TCGA Cosmic
MGAM	O43451	p.Asn1847Asp	rs773456429	missense variant	-	NC_000007.14:g.142105856A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1847Ser	rs1276339092	missense variant	-	NC_000007.14:g.142105857A>G	gnomAD
MGAM	O43451	p.Asn1847His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142105856A>C	NCI-TCGA
MGAM	O43451	p.Phe1848Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142105859T>G	NCI-TCGA
MGAM	O43451	p.Thr1849Ala	rs747301445	missense variant	-	NC_000007.14:g.142105862A>G	ExAC,gnomAD
MGAM	O43451	p.Ser1850Leu	rs770988934	missense variant	-	NC_000007.14:g.142105866C>T	ExAC,gnomAD
MGAM	O43451	p.Leu1851Phe	rs1471485437	missense variant	-	NC_000007.14:g.142105870G>T	TOPMed
MGAM	O43451	p.Thr1852Met	rs370916883	missense variant	-	NC_000007.14:g.142105872C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1852Met	rs370916883	missense variant	-	NC_000007.14:g.142105872C>T	NCI-TCGA,NCI-TCGA Cosmic
MGAM	O43451	p.Thr1852Lys	rs370916883	missense variant	-	NC_000007.14:g.142105872C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1853Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142105876G>T	NCI-TCGA
MGAM	O43451	p.Ile1854Val	rs1262920796	missense variant	-	NC_000007.14:g.142105877A>G	TOPMed,gnomAD
MGAM	O43451	p.Ser1855Asn	rs1447177148	missense variant	-	NC_000007.14:g.142105881G>A	gnomAD
MGAM	O43451	p.LeuTer1857LeuUnk	rs751944457	stop lost	-	NC_000007.14:g.142105889_142105890del	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys5Gln	rs1554452045	missense variant	-	NC_000007.14:g.142005543A>C	gnomAD
MGAM	O43451	p.Leu6Val	rs782042260	missense variant	-	NC_000007.14:g.142005546C>G	ExAC,gnomAD
MGAM	O43451	p.Lys8Ile	rs782148481	missense variant	-	NC_000007.14:g.142005553A>T	ExAC,gnomAD
MGAM	O43451	p.Phe9Tyr	rs1554452053	missense variant	-	NC_000007.14:g.142005556T>A	gnomAD
MGAM	O43451	p.Thr10Ser	rs972193872	missense variant	-	NC_000007.14:g.142005559C>G	TOPMed
MGAM	O43451	p.Thr11Asn	rs1554452062	missense variant	-	NC_000007.14:g.142005562C>A	gnomAD
MGAM	O43451	p.Thr11Ala	rs1554452058	missense variant	-	NC_000007.14:g.142005561A>G	gnomAD
MGAM	O43451	p.Glu13Gly	rs1554452067	missense variant	-	NC_000007.14:g.142005568A>G	gnomAD
MGAM	O43451	p.Ile14Met	rs782787898	missense variant	-	NC_000007.14:g.142005572T>G	ExAC,gnomAD
MGAM	O43451	p.Ile14Phe	rs919382645	missense variant	-	NC_000007.14:g.142005570A>T	TOPMed
MGAM	O43451	p.Ile14Val	rs919382645	missense variant	-	NC_000007.14:g.142005570A>G	TOPMed
MGAM	O43451	p.Val15Met	rs1554452070	missense variant	-	NC_000007.14:g.142005573G>A	gnomAD
MGAM	O43451	p.Val18Ile	rs781847084	missense variant	-	NC_000007.14:g.142005582G>A	ExAC,TOPMed
MGAM	O43451	p.Leu19Phe	rs782491643	missense variant	-	NC_000007.14:g.142005585C>T	ExAC,gnomAD
MGAM	O43451	p.Leu21Phe	rs1398823313	missense variant	-	NC_000007.14:g.142005591C>T	TOPMed
MGAM	O43451	p.Val22Met	rs1554452086	missense variant	-	NC_000007.14:g.142005594G>A	gnomAD
MGAM	O43451	p.Leu23Ter	rs1554452092	stop gained	-	NC_000007.14:g.142005598T>A	gnomAD
MGAM	O43451	p.Ile25Val	rs61733478	missense variant	-	NC_000007.14:g.142005603A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile25Leu	rs61733478	missense variant	-	NC_000007.14:g.142005603A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser27Asn	rs1167591977	missense variant	-	NC_000007.14:g.142005610G>A	TOPMed,gnomAD
MGAM	O43451	p.Ile28Val	rs1554452098	missense variant	-	NC_000007.14:g.142005612A>G	gnomAD
MGAM	O43451	p.Ile28Thr	rs201144916	missense variant	-	NC_000007.14:g.142005613T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu30Pro	rs1554452103	missense variant	-	NC_000007.14:g.142005619T>C	gnomAD
MGAM	O43451	p.Ile31Val	rs782681405	missense variant	-	NC_000007.14:g.142005621A>G	ExAC,gnomAD
MGAM	O43451	p.Val32Leu	rs1554452108	missense variant	-	NC_000007.14:g.142005624G>T	gnomAD
MGAM	O43451	p.Lys36Glu	rs782499547	missense variant	-	NC_000007.14:g.142005636A>G	ExAC,gnomAD
MGAM	O43451	p.Ser38Thr	rs782627328	missense variant	-	NC_000007.14:g.142005642T>A	ExAC,gnomAD
MGAM	O43451	p.Leu39Val	rs782209727	missense variant	-	NC_000007.14:g.142005645C>G	ExAC,gnomAD
MGAM	O43451	p.Lys40Ile	rs782329352	missense variant	-	NC_000007.14:g.142005649A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser41Ter	rs1439042125	stop gained	-	NC_000007.14:g.142005652C>G	TOPMed
MGAM	O43451	p.Ala43Val	rs1554453211	missense variant	-	NC_000007.14:g.142008506C>T	gnomAD
MGAM	O43451	p.Thr48Arg	rs199885071	missense variant	-	NC_000007.14:g.142008521C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr48Ile	rs199885071	missense variant	-	NC_000007.14:g.142008521C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr49Ala	rs1554453220	missense variant	-	NC_000007.14:g.142008523A>G	gnomAD
MGAM	O43451	p.Gly50Ser	rs782372470	missense variant	-	NC_000007.14:g.142008526G>A	ExAC,gnomAD
MGAM	O43451	p.Gly50Val	rs1458554924	missense variant	-	NC_000007.14:g.142008527G>T	TOPMed,gnomAD
MGAM	O43451	p.Thr51Ile	rs1554453228	missense variant	-	NC_000007.14:g.142008530C>T	gnomAD
MGAM	O43451	p.Thr51Asn	rs1554453228	missense variant	-	NC_000007.14:g.142008530C>A	gnomAD
MGAM	O43451	p.Pro52Thr	rs868912593	missense variant	-	NC_000007.14:g.142008532C>A	TOPMed
MGAM	O43451	p.Asp53His	rs1322962933	missense variant	-	NC_000007.14:g.142008535G>C	TOPMed
MGAM	O43451	p.Pro54Ala	rs1290003171	missense variant	-	NC_000007.14:g.142008538C>G	TOPMed
MGAM	O43451	p.Gly55Arg	rs1238905951	missense variant	-	NC_000007.14:g.142008541G>A	TOPMed
MGAM	O43451	p.Thr56Ile	rs931531509	missense variant	-	NC_000007.14:g.142008545C>T	TOPMed
MGAM	O43451	p.Thr59Pro	rs1291693920	missense variant	-	NC_000007.14:g.142008553A>C	TOPMed
MGAM	O43451	p.Pro60Leu	rs1554453251	missense variant	-	NC_000007.14:g.142008557C>T	gnomAD
MGAM	O43451	p.Asp61His	rs182921681	missense variant	-	NC_000007.14:g.142008559G>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Asp61Val	rs1554453252	missense variant	-	NC_000007.14:g.142008560A>T	gnomAD
MGAM	O43451	p.Pro62Leu	rs541807685	missense variant	-	NC_000007.14:g.142008563C>T	1000Genomes,ExAC
MGAM	O43451	p.Gly63Glu	rs781920229	missense variant	-	NC_000007.14:g.142008566G>A	ExAC,gnomAD
MGAM	O43451	p.Gly63Ter	rs201790349	stop gained	-	NC_000007.14:g.142008565G>T	1000Genomes
MGAM	O43451	p.Thr64Lys	rs782165691	missense variant	-	NC_000007.14:g.142008569C>A	ExAC,gnomAD
MGAM	O43451	p.Thr64Pro	rs1351649385	missense variant	-	NC_000007.14:g.142008568A>C	TOPMed,gnomAD
MGAM	O43451	p.Gly66Ser	rs569885905	missense variant	-	NC_000007.14:g.142008574G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr67Ile	rs1419269717	missense variant	-	NC_000007.14:g.142008578C>T	TOPMed,gnomAD
MGAM	O43451	p.Thr68Pro	rs1378707447	missense variant	-	NC_000007.14:g.142008580A>C	TOPMed
MGAM	O43451	p.His69Asn	rs571920896	missense variant	-	NC_000007.14:g.142008583C>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His69Asp	rs571920896	missense variant	-	NC_000007.14:g.142008583C>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His69Arg	rs782733042	missense variant	-	NC_000007.14:g.142008584A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala70Pro	rs1189940892	missense variant	-	NC_000007.14:g.142008586G>C	TOPMed
MGAM	O43451	p.Ala70Ser	rs1189940892	missense variant	-	NC_000007.14:g.142008586G>T	TOPMed
MGAM	O43451	p.Arg71Gly	rs1246724582	missense variant	-	NC_000007.14:g.142008589A>G	TOPMed
MGAM	O43451	p.Arg71Met	rs1554453288	missense variant	-	NC_000007.14:g.142008590G>T	gnomAD
MGAM	O43451	p.Thr73Met	rs201174904	missense variant	-	NC_000007.14:g.142008596C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly74Asp	rs781891982	missense variant	-	NC_000007.14:g.142008599G>A	ExAC,gnomAD
MGAM	O43451	p.Pro75Leu	rs1554453301	missense variant	-	NC_000007.14:g.142008602C>T	gnomAD
MGAM	O43451	p.Pro75Thr	rs200220205	missense variant	-	NC_000007.14:g.142008601C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro76Ser	rs369561557	missense variant	-	NC_000007.14:g.142008604C>T	ESP,TOPMed
MGAM	O43451	p.Pro76Gln	rs1554453306	missense variant	-	NC_000007.14:g.142008605C>A	gnomAD
MGAM	O43451	p.Asp77Gly	rs782638645	missense variant	-	NC_000007.14:g.142008608A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro78Ser	rs781834966	missense variant	-	NC_000007.14:g.142008610C>T	ExAC,gnomAD
MGAM	O43451	p.Gly82Asp	rs1554453315	missense variant	-	NC_000007.14:g.142008623G>A	gnomAD
MGAM	O43451	p.Thr83Asn	rs1220828400	missense variant	-	NC_000007.14:g.142008626C>A	TOPMed
MGAM	O43451	p.Thr84Ile	rs1554453321	missense variant	-	NC_000007.14:g.142008629C>T	gnomAD
MGAM	O43451	p.Pro85Ala	rs1554453330	missense variant	-	NC_000007.14:g.142008631C>G	gnomAD
MGAM	O43451	p.Val86Ala	rs373889066	missense variant	-	NC_000007.14:g.142008635T>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser87Phe	rs1554453338	missense variant	-	NC_000007.14:g.142008638C>T	gnomAD
MGAM	O43451	p.Ala88Val	rs142208150	missense variant	-	NC_000007.14:g.142008641C>T	1000Genomes
MGAM	O43451	p.Glu89Ala	rs1303770858	missense variant	-	NC_000007.14:g.142008644A>C	TOPMed,gnomAD
MGAM	O43451	p.Glu89Gly	rs1303770858	missense variant	-	NC_000007.14:g.142008644A>G	TOPMed,gnomAD
MGAM	O43451	p.Cys90Ser	rs1358768865	missense variant	-	NC_000007.14:g.142008646T>A	TOPMed
MGAM	O43451	p.Glu97Val	rs782260235	missense variant	-	NC_000007.14:g.142008668A>T	ExAC,gnomAD
MGAM	O43451	p.Arg98Ter	rs782363163	stop gained	-	NC_000007.14:g.142008670C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg98Gln	rs779098977	missense variant	-	NC_000007.14:g.142008671G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro103Ser	rs1554453368	missense variant	-	NC_000007.14:g.142008685C>T	gnomAD
MGAM	O43451	p.Asp104Glu	rs782038080	missense variant	-	NC_000007.14:g.142008690C>A	ExAC,gnomAD
MGAM	O43451	p.Asp104Ala	rs1554453371	missense variant	-	NC_000007.14:g.142008689A>C	gnomAD
MGAM	O43451	p.Pro106Leu	rs748580642	missense variant	-	NC_000007.14:g.142008695C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr108Ala	rs1554453383	missense variant	-	NC_000007.14:g.142008700A>G	gnomAD
MGAM	O43451	p.Lys109Glu	rs1554453387	missense variant	-	NC_000007.14:g.142008703A>G	gnomAD
MGAM	O43451	p.Ala110Thr	rs782768460	missense variant	-	NC_000007.14:g.142019199G>A	ExAC,gnomAD
MGAM	O43451	p.Ala110Ser	rs782768460	missense variant	-	NC_000007.14:g.142019199G>T	ExAC,gnomAD
MGAM	O43451	p.Thr111Ile	rs374528123	missense variant	-	NC_000007.14:g.142019203C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg115Cys	rs782730354	missense variant	-	NC_000007.14:g.142019214C>T	ExAC,gnomAD
MGAM	O43451	p.Arg115His	rs1554457449	missense variant	-	NC_000007.14:g.142019215G>A	gnomAD
MGAM	O43451	p.Gly116Ser	rs782504315	missense variant	-	NC_000007.14:g.142019217G>A	TOPMed
MGAM	O43451	p.Cys117Arg	rs781792206	missense variant	-	NC_000007.14:g.142019220T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys117Tyr	rs782552577	missense variant	-	NC_000007.14:g.142019221G>A	ExAC,gnomAD
MGAM	O43451	p.Trp119Ter	rs1554457472	stop gained	-	NC_000007.14:g.142019228G>A	gnomAD
MGAM	O43451	p.Trp119Arg	rs376282334	missense variant	-	NC_000007.14:g.142019226T>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn120Thr	rs576626552	missense variant	-	NC_000007.14:g.142019230A>C	gnomAD
MGAM	O43451	p.Asn120Lys	rs1187691812	missense variant	-	NC_000007.14:g.142019231T>A	TOPMed
MGAM	O43451	p.Asn120Ile	rs576626552	missense variant	-	NC_000007.14:g.142019230A>T	gnomAD
MGAM	O43451	p.Gly123Glu	rs1475463265	missense variant	-	NC_000007.14:g.142019239G>A	TOPMed
MGAM	O43451	p.Val125Leu	rs782272356	missense variant	-	NC_000007.14:g.142019244G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val125Ile	rs782272356	missense variant	-	NC_000007.14:g.142019244G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val127Ala	rs782616300	missense variant	-	NC_000007.14:g.142019251T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val127Ile	rs782517449	missense variant	-	NC_000007.14:g.142019250G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val127Phe	rs782517449	missense variant	-	NC_000007.14:g.142019250G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val127Gly	rs782616300	missense variant	-	NC_000007.14:g.142019251T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro128Ser	rs1216348444	missense variant	-	NC_000007.14:g.142019253C>T	TOPMed
MGAM	O43451	p.Trp129Arg	rs782204750	missense variant	-	NC_000007.14:g.142019256T>C	ExAC,gnomAD
MGAM	O43451	p.Tyr131Asp	rs1362739572	missense variant	-	NC_000007.14:g.142019262T>G	TOPMed,gnomAD
MGAM	O43451	p.Tyr131Cys	rs1554457525	missense variant	-	NC_000007.14:g.142019263A>G	gnomAD
MGAM	O43451	p.Tyr131His	rs1362739572	missense variant	-	NC_000007.14:g.142019262T>C	TOPMed,gnomAD
MGAM	O43451	p.Tyr131Ter	rs1314505018	stop gained	-	NC_000007.14:g.142019264C>A	TOPMed
MGAM	O43451	p.Tyr132Cys	rs1450690513	missense variant	-	NC_000007.14:g.142019266A>G	TOPMed
MGAM	O43451	p.Lys134Arg	rs370701658	missense variant	-	NC_000007.14:g.142019272A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn135Ser	rs782291424	missense variant	-	NC_000007.14:g.142019275A>G	ExAC,gnomAD
MGAM	O43451	p.His136Arg	rs114936410	missense variant	-	NC_000007.14:g.142019278A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His139Tyr	rs1353207268	missense variant	-	NC_000007.14:g.142019286C>T	TOPMed,gnomAD
MGAM	O43451	p.Gly142Ser	rs368074859	missense variant	-	NC_000007.14:g.142019295G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly142Val	rs1384044094	missense variant	-	NC_000007.14:g.142019296G>T	TOPMed
MGAM	O43451	p.Gly142Asp	rs1384044094	missense variant	-	NC_000007.14:g.142019296G>A	TOPMed
MGAM	O43451	p.Leu144Pro	rs1554457576	missense variant	-	NC_000007.14:g.142019302T>C	gnomAD
MGAM	O43451	p.Thr147Ile	rs1554457581	missense variant	-	NC_000007.14:g.142019311C>T	gnomAD
MGAM	O43451	p.Asn148Lys	rs1554457583	missense variant	-	NC_000007.14:g.142019315T>G	gnomAD
MGAM	O43451	p.Ala149Val	rs781892890	missense variant	-	NC_000007.14:g.142019317C>T	ExAC,gnomAD
MGAM	O43451	p.Ala149Thr	rs782811489	missense variant	-	NC_000007.14:g.142019316G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly150Arg	rs782771834	missense variant	-	NC_000007.14:g.142019319G>C	ExAC,gnomAD
MGAM	O43451	p.Gly150Glu	rs1554458472	missense variant	-	NC_000007.14:g.142020974G>A	gnomAD
MGAM	O43451	p.Arg154Trp	rs191137461	missense variant	-	NC_000007.14:g.142020985C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg154Gln	rs200453166	missense variant	-	NC_000007.14:g.142020986G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn157Tyr	rs1554458479	missense variant	-	NC_000007.14:g.142020994A>T	gnomAD
MGAM	O43451	p.Pro162Arg	rs782294372	missense variant	-	NC_000007.14:g.142021010C>G	ExAC,gnomAD
MGAM	O43451	p.Val163Ala	rs369689890	missense variant	-	NC_000007.14:g.142021013T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser166Gly	rs782250332	missense variant	-	NC_000007.14:g.142021021A>G	ExAC,gnomAD
MGAM	O43451	p.Asn167Ser	rs1474856078	missense variant	-	NC_000007.14:g.142021025A>G	TOPMed,gnomAD
MGAM	O43451	p.Val168Ile	rs782367862	missense variant	-	NC_000007.14:g.142021027G>A	ExAC,gnomAD
MGAM	O43451	p.Asp169Glu	rs781955537	missense variant	-	NC_000007.14:g.142021032C>A	ExAC,gnomAD
MGAM	O43451	p.Asn170Ser	rs782073483	missense variant	-	NC_000007.14:g.142021034A>G	ExAC,gnomAD
MGAM	O43451	p.Leu173Pro	rs782028908	missense variant	-	NC_000007.14:g.142021043T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr174Ile	rs1554458536	missense variant	-	NC_000007.14:g.142021046C>T	gnomAD
MGAM	O43451	p.Glu176Gln	rs782136193	missense variant	-	NC_000007.14:g.142021051G>C	ExAC,gnomAD
MGAM	O43451	p.Glu176Asp	rs782787435	missense variant	-	NC_000007.14:g.142021053A>C	ExAC,gnomAD
MGAM	O43451	p.Gln178Arg	rs781983176	missense variant	-	NC_000007.14:g.142021058A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn181Asp	rs201586821	missense variant	-	NC_000007.14:g.142021066A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg182Cys	rs146995745	missense variant	-	NC_000007.14:g.142021069C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg182His	rs781807541	missense variant	-	NC_000007.14:g.142021070G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His184Leu	rs782786733	missense variant	-	NC_000007.14:g.142021076A>T	ExAC,gnomAD
MGAM	O43451	p.Thr188Pro	rs1554458824	missense variant	-	NC_000007.14:g.142021589A>C	gnomAD
MGAM	O43451	p.Asp189Asn	rs577101147	missense variant	-	NC_000007.14:g.142021592G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln190Glu	rs1554458828	missense variant	-	NC_000007.14:g.142021595C>G	gnomAD
MGAM	O43451	p.Asn192Thr	rs369486229	missense variant	-	NC_000007.14:g.142021602A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn192Ile	rs369486229	missense variant	-	NC_000007.14:g.142021602A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn193Ser	rs1554458839	missense variant	-	NC_000007.14:g.142021605A>G	gnomAD
MGAM	O43451	p.Glu200Lys	rs957482156	missense variant	-	NC_000007.14:g.142021625G>A	gnomAD
MGAM	O43451	p.His201Gln	rs2272326	missense variant	-	NC_000007.14:g.142021630C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His201Arg	rs1392346006	missense variant	-	NC_000007.14:g.142021629A>G	TOPMed,gnomAD
MGAM	O43451	p.Val202Met	rs368879552	missense variant	-	NC_000007.14:g.142021631G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val202Leu	rs368879552	missense variant	-	NC_000007.14:g.142021631G>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser206Arg	rs782107962	missense variant	-	NC_000007.14:g.142021643A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser206Gly	rs782107962	missense variant	-	NC_000007.14:g.142021643A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly207Ala	rs1273362632	missense variant	-	NC_000007.14:g.142021647G>C	TOPMed
MGAM	O43451	p.Gly207Arg	rs782342749	missense variant	-	NC_000007.14:g.142021646G>A	ExAC,gnomAD
MGAM	O43451	p.Ala209Thr	rs1202521230	missense variant	-	NC_000007.14:g.142021652G>A	TOPMed
MGAM	O43451	p.Ala211Thr	rs574112628	missense variant	-	NC_000007.14:g.142021658G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala211Ser	rs574112628	missense variant	-	NC_000007.14:g.142021658G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr214Ala	rs1554458883	missense variant	-	NC_000007.14:g.142021667A>G	gnomAD
MGAM	O43451	p.Tyr215Cys	rs1554458891	missense variant	-	NC_000007.14:g.142021671A>G	gnomAD
MGAM	O43451	p.Tyr215Asp	rs1554458889	missense variant	-	NC_000007.14:g.142021670T>G	gnomAD
MGAM	O43451	p.Gln216Arg	rs1554458899	missense variant	-	NC_000007.14:g.142021674A>G	gnomAD
MGAM	O43451	p.Gln216Ter	rs782757681	stop gained	-	NC_000007.14:g.142021673C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val217Ala	rs1554458903	missense variant	-	NC_000007.14:g.142021677T>C	gnomAD
MGAM	O43451	p.Glu218Lys	rs202247797	missense variant	-	NC_000007.14:g.142021679G>A	gnomAD
MGAM	O43451	p.Ile219Leu	rs376468703	missense variant	-	NC_000007.14:g.142021682A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile219Thr	rs782477644	missense variant	-	NC_000007.14:g.142021683T>C	ExAC,gnomAD
MGAM	O43451	p.Arg221Gly	rs782576547	missense variant	-	NC_000007.14:g.142021688A>G	ExAC,gnomAD
MGAM	O43451	p.Gln222Glu	rs1554458908	missense variant	-	NC_000007.14:g.142021691C>G	gnomAD
MGAM	O43451	p.Ser225Thr	rs782529704	missense variant	-	NC_000007.14:g.142021701G>C	ExAC,gnomAD
MGAM	O43451	p.Val228Ala	rs1554458912	missense variant	-	NC_000007.14:g.142021710T>C	gnomAD
MGAM	O43451	p.Arg231Ile	rs183067128	missense variant	-	NC_000007.14:g.142021719G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg231Ser	rs370942363	missense variant	-	NC_000007.14:g.142021720A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg235His	rs781819632	missense variant	-	NC_000007.14:g.142021731G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg235Cys	rs375177765	missense variant	-	NC_000007.14:g.142021730C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val236Ala	rs782790272	missense variant	-	NC_000007.14:g.142021734T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe238Leu	rs782396595	missense variant	-	NC_000007.14:g.142022269T>C	ExAC,gnomAD
MGAM	O43451	p.Asp239Gly	rs782651416	missense variant	-	NC_000007.14:g.142022273A>G	ExAC,gnomAD
MGAM	O43451	p.Ser240Leu	rs782236312	missense variant	-	NC_000007.14:g.142022276C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly243Glu	rs1158398826	missense variant	-	NC_000007.14:g.142022285G>A	TOPMed,gnomAD
MGAM	O43451	p.Pro244Arg	rs572139780	missense variant	-	NC_000007.14:g.142022288C>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Pro244His	rs572139780	missense variant	-	NC_000007.14:g.142022288C>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Pro244Leu	rs572139780	missense variant	-	NC_000007.14:g.142022288C>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Leu246Pro	rs374712168	missense variant	-	NC_000007.14:g.142022294T>C	ESP,ExAC,gnomAD
MGAM	O43451	p.Phe247Leu	rs1472287479	missense variant	-	NC_000007.14:g.142022296T>C	TOPMed
MGAM	O43451	p.Asp249Glu	rs368544175	missense variant	-	NC_000007.14:g.142022304C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp249Glu	rs368544175	missense variant	-	NC_000007.14:g.142022304C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln250His	rs782014529	missense variant	-	NC_000007.14:g.142022307G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe251Leu	rs1554459207	missense variant	-	NC_000007.14:g.142022310C>G	gnomAD
MGAM	O43451	p.Ser255Phe	rs201266519	missense variant	-	NC_000007.14:g.142022321C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg257Gln	rs782082021	missense variant	-	NC_000007.14:g.142022327G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg257Ter	rs781972778	stop gained	-	NC_000007.14:g.142022326C>T	ExAC,gnomAD
MGAM	O43451	p.Ser260Arg	rs376595784	missense variant	-	NC_000007.14:g.142022337C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu268Lys	rs1223926013	missense variant	-	NC_000007.14:g.142022359G>A	TOPMed
MGAM	O43451	p.His269Gln	rs782801521	missense variant	-	NC_000007.14:g.142022364T>A	ExAC,gnomAD
MGAM	O43451	p.His269Tyr	rs951729956	missense variant	-	NC_000007.14:g.142022362C>T	gnomAD
MGAM	O43451	p.Val270Ala	rs782505210	missense variant	-	NC_000007.14:g.142022366T>C	ExAC,gnomAD
MGAM	O43451	p.Gln273His	rs782606103	missense variant	-	NC_000007.14:g.142022376G>T	ExAC,gnomAD
MGAM	O43451	p.Arg275Gln	rs1272804758	missense variant	-	NC_000007.14:g.142022381G>A	TOPMed,gnomAD
MGAM	O43451	p.Arg275Trp	rs372197743	missense variant	-	NC_000007.14:g.142022380C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg275Pro	rs1272804758	missense variant	-	NC_000007.14:g.142022381G>C	TOPMed,gnomAD
MGAM	O43451	p.Asp277His	rs782295291	missense variant	-	NC_000007.14:g.142022386G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp277Asn	rs782295291	missense variant	-	NC_000007.14:g.142022386G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp277Tyr	rs782295291	missense variant	-	NC_000007.14:g.142022386G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met278Val	rs1319801669	missense variant	-	NC_000007.14:g.142022389A>G	TOPMed
MGAM	O43451	p.MetAsnTrp278MetAsnTerIleUnk	rs782284375	stop gained	-	NC_000007.14:g.142022396_142022397insAATTG	ExAC,gnomAD
MGAM	O43451	p.Asn279Asp	rs369129473	missense variant	-	NC_000007.14:g.142022392A>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Lys281Glu	rs782405255	missense variant	-	NC_000007.14:g.142022398A>G	ExAC,gnomAD
MGAM	O43451	p.Trp283Cys	rs782225856	missense variant	-	NC_000007.14:g.142022406G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp283Arg	rs781988256	missense variant	-	NC_000007.14:g.142022404T>C	ExAC,gnomAD
MGAM	O43451	p.Trp283Ter	rs782225856	stop gained	-	NC_000007.14:g.142022406G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro284Thr	rs868934815	missense variant	-	NC_000007.14:g.142022407C>A	TOPMed,gnomAD
MGAM	O43451	p.Pro284Leu	rs782344799	missense variant	-	NC_000007.14:g.142022408C>T	ExAC,gnomAD
MGAM	O43451	p.Ile285Val	rs1419844317	missense variant	-	NC_000007.14:g.142022410A>G	TOPMed,gnomAD
MGAM	O43451	p.Thr290Ala	rs1192034431	missense variant	-	NC_000007.14:g.142022425A>G	TOPMed
MGAM	O43451	p.Thr290Lys	rs782056080	missense variant	-	NC_000007.14:g.142022426C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr290Ile	rs782056080	missense variant	-	NC_000007.14:g.142022426C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr291Pro	rs1554459275	missense variant	-	NC_000007.14:g.142022428A>C	gnomAD
MGAM	O43451	p.Pro292Leu	rs1554459281	missense variant	-	NC_000007.14:g.142022432C>T	gnomAD
MGAM	O43451	p.Asn293Ser	rs782126641	missense variant	-	NC_000007.14:g.142022435A>G	ExAC,gnomAD
MGAM	O43451	p.Asn295His	rs782337159	missense variant	-	NC_000007.14:g.142025050A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly296Glu	rs571907096	missense variant	-	NC_000007.14:g.142025054G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Gly296Arg	rs1554460346	missense variant	-	NC_000007.14:g.142025053G>A	gnomAD
MGAM	O43451	p.Asn298Asp	rs1554460351	missense variant	-	NC_000007.14:g.142025059A>G	gnomAD
MGAM	O43451	p.Leu299Val	rs1554460359	missense variant	-	NC_000007.14:g.142025062T>G	gnomAD
MGAM	O43451	p.Leu299Trp	rs1172867548	missense variant	-	NC_000007.14:g.142025063T>G	TOPMed
MGAM	O43451	p.Tyr300Cys	rs186400912	missense variant	-	NC_000007.14:g.142025066A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr300His	rs1554460367	missense variant	-	NC_000007.14:g.142025065T>C	gnomAD
MGAM	O43451	p.Tyr300Phe	rs186400912	missense variant	-	NC_000007.14:g.142025066A>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly301Ser	rs1375954722	missense variant	-	NC_000007.14:g.142025068G>A	TOPMed,gnomAD
MGAM	O43451	p.Ala302Val	rs201997667	missense variant	-	NC_000007.14:g.142025072C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala302Glu	rs201997667	missense variant	-	NC_000007.14:g.142025072C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln303Ter	rs1554460378	stop gained	-	NC_000007.14:g.142025074C>T	gnomAD
MGAM	O43451	p.Gln303Pro	rs1554460380	missense variant	-	NC_000007.14:g.142025075A>C	gnomAD
MGAM	O43451	p.Phe305Leu	rs781906055	missense variant	-	NC_000007.14:g.142025082C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe305Cys	rs373438553	missense variant	-	NC_000007.14:g.142025081T>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe305Leu	rs781906055	missense variant	-	NC_000007.14:g.142025082C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe306Leu	rs1489436365	missense variant	-	NC_000007.14:g.142025083T>C	TOPMed
MGAM	O43451	p.Leu307Phe	rs1200335769	missense variant	-	NC_000007.14:g.142025088G>T	TOPMed,gnomAD
MGAM	O43451	p.Cys308Ser	rs1554460388	missense variant	-	NC_000007.14:g.142025090G>C	gnomAD
MGAM	O43451	p.Ser313Gly	rs782355667	missense variant	-	NC_000007.14:g.142025104A>G	ExAC,gnomAD
MGAM	O43451	p.Gly318Arg	rs782304559	missense variant	-	NC_000007.14:g.142025119G>A	ExAC,gnomAD
MGAM	O43451	p.Phe320Leu	rs782031017	missense variant	-	NC_000007.14:g.142025125T>C	ExAC,gnomAD
MGAM	O43451	p.Met322Lys	rs370542172	missense variant	-	NC_000007.14:g.142025132T>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Asn323Ser	rs527339185	missense variant	-	NC_000007.14:g.142025135A>G	ExAC,gnomAD
MGAM	O43451	p.Ser324Asn	rs781898633	missense variant	-	NC_000007.14:g.142025138G>A	ExAC,gnomAD
MGAM	O43451	p.Ser324Arg	rs942682815	missense variant	-	NC_000007.14:g.142025139C>A	gnomAD
MGAM	O43451	p.Asn325Asp	rs782718423	missense variant	-	NC_000007.14:g.142025140A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn325His	rs782718423	missense variant	-	NC_000007.14:g.142025140A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met327Ile	rs1401471656	missense variant	-	NC_000007.14:g.142025148G>A	TOPMed
MGAM	O43451	p.Met327Val	rs548853167	missense variant	-	NC_000007.14:g.142025146A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu328Asp	rs781786759	missense variant	-	NC_000007.14:g.142027116G>T	ExAC,gnomAD
MGAM	O43451	p.Val330Leu	rs1195346222	missense variant	-	NC_000007.14:g.142027120G>C	TOPMed,gnomAD
MGAM	O43451	p.Ala334Val	rs782549716	missense variant	-	NC_000007.14:g.142027133C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro335Ser	rs1554461185	missense variant	-	NC_000007.14:g.142027135C>T	gnomAD
MGAM	O43451	p.Ile337Val	rs1554461188	missense variant	-	NC_000007.14:g.142027141A>G	gnomAD
MGAM	O43451	p.Thr338Ser	rs782495044	missense variant	-	NC_000007.14:g.142027144A>T	ExAC,gnomAD
MGAM	O43451	p.Thr338Pro	rs782495044	missense variant	-	NC_000007.14:g.142027144A>C	ExAC,gnomAD
MGAM	O43451	p.Thr338Ile	rs1359191634	missense variant	-	NC_000007.14:g.142027145C>T	TOPMed,gnomAD
MGAM	O43451	p.Tyr339His	rs1554461201	missense variant	-	NC_000007.14:g.142027147T>C	gnomAD
MGAM	O43451	p.Arg340His	rs782451986	missense variant	-	NC_000007.14:g.142027151G>A	ExAC,gnomAD
MGAM	O43451	p.Arg340Gly	rs199961575	missense variant	-	NC_000007.14:g.142027150C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg340Cys	rs199961575	missense variant	-	NC_000007.14:g.142027150C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile342Asn	rs200058369	missense variant	-	NC_000007.14:g.142027157T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile342Ser	rs200058369	missense variant	-	NC_000007.14:g.142027157T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile342Thr	rs200058369	missense variant	-	NC_000007.14:g.142027157T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly344Ser	rs782234699	missense variant	-	NC_000007.14:g.142027162G>A	ExAC,gnomAD
MGAM	O43451	p.Ile345Val	rs782330482	missense variant	-	NC_000007.14:g.142027165A>G	ExAC,gnomAD
MGAM	O43451	p.Asp347Asn	rs1554461237	missense variant	-	NC_000007.14:g.142027171G>A	gnomAD
MGAM	O43451	p.Phe348Ser	rs1042240078	missense variant	-	NC_000007.14:g.142027175T>C	TOPMed
MGAM	O43451	p.Tyr349Cys	rs782041510	missense variant	-	NC_000007.14:g.142027178A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val350Met	rs782809881	missense variant	-	NC_000007.14:g.142027180G>A	ExAC,gnomAD
MGAM	O43451	p.Leu352Ter	rs1379655096	stop gained	-	NC_000007.14:g.142027187T>A	TOPMed
MGAM	O43451	p.Thr355Ser	rs1181164759	missense variant	-	NC_000007.14:g.142027195A>T	TOPMed,gnomAD
MGAM	O43451	p.Thr355Ala	rs1181164759	missense variant	-	NC_000007.14:g.142027195A>G	TOPMed,gnomAD
MGAM	O43451	p.Glu357Gly	rs1554461260	missense variant	-	NC_000007.14:g.142027202A>G	gnomAD
MGAM	O43451	p.Gln358Ter	rs372045141	stop gained	-	NC_000007.14:g.142027204C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln358Glu	rs372045141	missense variant	-	NC_000007.14:g.142027204C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln361Lys	rs1554461267	missense variant	-	NC_000007.14:g.142027213C>A	gnomAD
MGAM	O43451	p.Glu362Asp	rs782691640	missense variant	-	NC_000007.14:g.142027218A>C	ExAC,gnomAD
MGAM	O43451	p.Tyr363Cys	rs781905880	missense variant	-	NC_000007.14:g.142027220A>G	ExAC,gnomAD
MGAM	O43451	p.Ile367Thr	rs1415283659	missense variant	-	NC_000007.14:g.142027614T>C	TOPMed
MGAM	O43451	p.Gly368Arg	rs1554461418	missense variant	-	NC_000007.14:g.142027616G>C	gnomAD
MGAM	O43451	p.Arg369Gln	rs368035457	missense variant	-	NC_000007.14:g.142027620G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg369Trp	rs781873643	missense variant	-	NC_000007.14:g.142027619C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala371Thr	rs781833668	missense variant	-	NC_000007.14:g.142027625G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser374Pro	rs1554461429	missense variant	-	NC_000007.14:g.142027634T>C	gnomAD
MGAM	O43451	p.Tyr375Cys	rs1244466223	missense variant	-	NC_000007.14:g.142027638A>G	TOPMed
MGAM	O43451	p.Trp376Arg	rs1554461435	missense variant	-	NC_000007.14:g.142027640T>A	gnomAD
MGAM	O43451	p.Ala377Thr	rs782524066	missense variant	-	NC_000007.14:g.142027643G>A	ExAC,gnomAD
MGAM	O43451	p.Ala377Val	rs189324698	missense variant	-	NC_000007.14:g.142027644C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly379Glu	rs191269779	missense variant	-	NC_000007.14:g.142027650G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly379Arg	rs558293494	missense variant	-	NC_000007.14:g.142027649G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His381Arg	rs782183146	missense variant	-	NC_000007.14:g.142027656A>G	ExAC,gnomAD
MGAM	O43451	p.His381Tyr	rs782565745	missense variant	-	NC_000007.14:g.142027655C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser383Ile	rs374006036	missense variant	-	NC_000007.14:g.142027662G>T	ESP,TOPMed
MGAM	O43451	p.Arg384Cys	rs1243727908	missense variant	-	NC_000007.14:g.142027664C>T	TOPMed,gnomAD
MGAM	O43451	p.Arg384His	rs537674844	missense variant	-	NC_000007.14:g.142027665G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu386Lys	rs373200528	missense variant	-	NC_000007.14:g.142027670G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly388Arg	rs1335380765	missense variant	-	NC_000007.14:g.142027676G>A	TOPMed
MGAM	O43451	p.Thr389Ile	rs781964893	missense variant	-	NC_000007.14:g.142027680C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr389Asn	rs781964893	missense variant	-	NC_000007.14:g.142027680C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp391Asn	rs184092742	missense variant	-	NC_000007.14:g.142027685G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp391Glu	rs766107711	missense variant	-	NC_000007.14:g.142027687C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn392Asp	rs781929078	missense variant	-	NC_000007.14:g.142027688A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn392Ser	rs200834950	missense variant	-	NC_000007.14:g.142027689A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met393Thr	rs782811856	missense variant	-	NC_000007.14:g.142027692T>C	ExAC,gnomAD
MGAM	O43451	p.Glu395Lys	rs371920898	missense variant	-	NC_000007.14:g.142027697G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val396Ile	rs1554461524	missense variant	-	NC_000007.14:g.142027700G>A	gnomAD
MGAM	O43451	p.Val397Met	rs377442966	missense variant	-	NC_000007.14:g.142027703G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg401Gly	rs188481752	missense variant	-	NC_000007.14:g.142027715C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg401Cys	rs188481752	missense variant	-	NC_000007.14:g.142027715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg401His	rs782279108	missense variant	-	NC_000007.14:g.142027716G>A	ExAC,gnomAD
MGAM	O43451	p.Arg401Ser	rs188481752	missense variant	-	NC_000007.14:g.142027715C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala402Gly	rs374307676	missense variant	-	NC_000007.14:g.142027719C>G	ESP,ExAC,gnomAD
MGAM	O43451	p.Ala402Thr	rs371373847	missense variant	-	NC_000007.14:g.142027718G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln404Pro	rs781930552	missense variant	-	NC_000007.14:g.142027725A>C	ExAC,gnomAD
MGAM	O43451	p.Gln404His	rs2272330	missense variant	-	NC_000007.14:g.142027726G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln404Ter	rs782335062	stop gained	-	NC_000007.14:g.142027724C>T	ExAC,gnomAD
MGAM	O43451	p.Leu405Phe	rs1277960803	missense variant	-	NC_000007.14:g.142027727C>T	TOPMed
MGAM	O43451	p.Leu405Pro	rs782427144	missense variant	-	NC_000007.14:g.142027728T>C	ExAC
MGAM	O43451	p.Tyr407His	rs782139481	missense variant	-	NC_000007.14:g.142027733T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr407Phe	rs1351388067	missense variant	-	NC_000007.14:g.142027734A>T	TOPMed
MGAM	O43451	p.Tyr407Asn	rs782139481	missense variant	-	NC_000007.14:g.142027733T>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp413Gly	rs1554462850	missense variant	-	NC_000007.14:g.142030378A>G	gnomAD
MGAM	O43451	p.Tyr416Cys	rs1554462854	missense variant	-	NC_000007.14:g.142030387A>G	gnomAD
MGAM	O43451	p.Met417Ile	rs782161428	missense variant	-	NC_000007.14:g.142030391G>A	ExAC,gnomAD
MGAM	O43451	p.Glu419Lys	rs567166329	missense variant	-	NC_000007.14:g.142030395G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Arg421Lys	rs374898168	missense variant	-	NC_000007.14:g.142030402G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp422Gly	rs782114142	missense variant	-	NC_000007.14:g.142030405A>G	ExAC,gnomAD
MGAM	O43451	p.Phe423Ser	rs781818371	missense variant	-	NC_000007.14:g.142030408T>C	ExAC,gnomAD
MGAM	O43451	p.Asp426Asn	rs782056253	missense variant	-	NC_000007.14:g.142030416G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser427Pro	rs782698679	missense variant	-	NC_000007.14:g.142030419T>C	ExAC,gnomAD
MGAM	O43451	p.Asp429Asn	rs781908862	missense variant	-	NC_000007.14:g.142030425G>A	ExAC,gnomAD
MGAM	O43451	p.Gly432Ala	rs1371928155	missense variant	-	NC_000007.14:g.142030435G>C	TOPMed
MGAM	O43451	p.Glu435Gly	rs1554462907	missense variant	-	NC_000007.14:g.142030444A>G	gnomAD
MGAM	O43451	p.Phe436Ile	rs1320168257	missense variant	-	NC_000007.14:g.142030446T>A	TOPMed,gnomAD
MGAM	O43451	p.Asn438Ser	rs1554462911	missense variant	-	NC_000007.14:g.142030453A>G	gnomAD
MGAM	O43451	p.Glu439Gln	rs782491222	missense variant	-	NC_000007.14:g.142030455G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu439Lys	rs782491222	missense variant	-	NC_000007.14:g.142030455G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu440Ter	rs782605775	stop gained	-	NC_000007.14:g.142030459T>G	ExAC,gnomAD
MGAM	O43451	p.Asn442Asp	rs782196345	missense variant	-	NC_000007.14:g.142030464A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn442Ser	rs782308686	missense variant	-	NC_000007.14:g.142030465A>G	ExAC,gnomAD
MGAM	O43451	p.Asn442Ile	rs782308686	missense variant	-	NC_000007.14:g.142030465A>T	ExAC,gnomAD
MGAM	O43451	p.Asn443Ser	rs1554462921	missense variant	-	NC_000007.14:g.142030468A>G	gnomAD
MGAM	O43451	p.Gly444Glu	rs1465965759	missense variant	-	NC_000007.14:g.142030471G>A	TOPMed
MGAM	O43451	p.Gln445Lys	rs782674701	missense variant	-	NC_000007.14:g.142030473C>A	ExAC,gnomAD
MGAM	O43451	p.Leu447Val	rs142037158	missense variant	-	NC_000007.14:g.142030479C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile450Thr	rs782372862	missense variant	-	NC_000007.14:g.142030489T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile450Val	rs782310137	missense variant	-	NC_000007.14:g.142030488A>G	gnomAD
MGAM	O43451	p.Ile450Leu	rs782310137	missense variant	-	NC_000007.14:g.142030488A>C	gnomAD
MGAM	O43451	p.Asp452Asn	rs782223084	missense variant	-	NC_000007.14:g.142030641G>A	ExAC,gnomAD
MGAM	O43451	p.Ala454Val	rs1373296368	missense variant	-	NC_000007.14:g.142030648C>T	TOPMed
MGAM	O43451	p.Ile455Thr	rs1421859270	missense variant	-	NC_000007.14:g.142030651T>C	TOPMed,gnomAD
MGAM	O43451	p.Ile455Ser	rs1421859270	missense variant	-	NC_000007.14:g.142030651T>G	TOPMed,gnomAD
MGAM	O43451	p.Ile455Val	rs782341305	missense variant	-	NC_000007.14:g.142030650A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn457Asp	rs1554463087	missense variant	-	NC_000007.14:g.142030656A>G	gnomAD
MGAM	O43451	p.Asn457Lys	rs782579825	missense variant	-	NC_000007.14:g.142030658C>G	ExAC,gnomAD
MGAM	O43451	p.Asn458Ser	rs1554463105	missense variant	-	NC_000007.14:g.142030660A>G	gnomAD
MGAM	O43451	p.Asn458Asp	rs1554463099	missense variant	-	NC_000007.14:g.142030659A>G	gnomAD
MGAM	O43451	p.Ser459Thr	rs782416042	missense variant	-	NC_000007.14:g.142030662T>A	ExAC,gnomAD
MGAM	O43451	p.Ser460Pro	rs1259477124	missense variant	-	NC_000007.14:g.142030665T>C	TOPMed
MGAM	O43451	p.Ser462Gly	rs76276410	missense variant	-	NC_000007.14:g.142030671A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro464Thr	rs782265176	missense variant	-	NC_000007.14:g.142030677C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro467Leu	rs781972911	missense variant	-	NC_000007.14:g.142030687C>T	ExAC,gnomAD
MGAM	O43451	p.Tyr468Cys	rs782088246	missense variant	-	NC_000007.14:g.142030690A>G	ExAC,gnomAD
MGAM	O43451	p.Gly471Ser	rs377157038	missense variant	-	NC_000007.14:g.142030698G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser472Ter	rs781922241	stop gained	-	NC_000007.14:g.142030702C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met474Val	rs1252121294	missense variant	-	NC_000007.14:g.142030707A>G	TOPMed
MGAM	O43451	p.Ile476Thr	rs1554463180	missense variant	-	NC_000007.14:g.142030714T>C	gnomAD
MGAM	O43451	p.Trp477Arg	rs1554463186	missense variant	-	NC_000007.14:g.142030716T>C	gnomAD
MGAM	O43451	p.Val478Met	rs1554463195	missense variant	-	NC_000007.14:g.142030719G>A	gnomAD
MGAM	O43451	p.Ser480Asn	rs782167847	missense variant	-	NC_000007.14:g.142030726G>A	ExAC,gnomAD
MGAM	O43451	p.Asp482Asn	rs782768330	missense variant	-	NC_000007.14:g.142030731G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro486Leu	rs545222714	missense variant	-	NC_000007.14:g.142030744C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile488Phe	rs1554463224	missense variant	-	NC_000007.14:g.142030749A>T	gnomAD
MGAM	O43451	p.Ile488Thr	rs1295542195	missense variant	-	NC_000007.14:g.142030750T>C	TOPMed
MGAM	O43451	p.Val491Ile	rs781896542	missense variant	-	NC_000007.14:g.142031680G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val491Phe	rs781896542	missense variant	-	NC_000007.14:g.142031680G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro493His	rs1554463815	missense variant	-	NC_000007.14:g.142031687C>A	gnomAD
MGAM	O43451	p.Gly494Arg	rs1554463821	missense variant	-	NC_000007.14:g.142031689G>A	gnomAD
MGAM	O43451	p.Thr496Ile	rs782531198	missense variant	-	NC_000007.14:g.142031696C>T	ExAC
MGAM	O43451	p.Val497Ala	rs781863603	missense variant	-	NC_000007.14:g.142031699T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro499Ala	rs782494225	missense variant	-	NC_000007.14:g.142031704C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr501Cys	rs782615480	missense variant	-	NC_000007.14:g.142031711A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr502Asn	rs782194727	missense variant	-	NC_000007.14:g.142031714C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn505Ser	rs552591544	missense variant	-	NC_000007.14:g.142031723A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Ala507Thr	rs782280924	missense variant	-	NC_000007.14:g.142031728G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp510Cys	rs1190098845	missense variant	-	NC_000007.14:g.142031739G>C	TOPMed,gnomAD
MGAM	O43451	p.Glu513Asp	rs1554463862	missense variant	-	NC_000007.14:g.142031748A>C	gnomAD
MGAM	O43451	p.Glu513Lys	rs782373494	missense variant	-	NC_000007.14:g.142031746G>A	ExAC,gnomAD
MGAM	O43451	p.Glu513Gly	rs1249964085	missense variant	-	NC_000007.14:g.142031747A>G	TOPMed
MGAM	O43451	p.Phe514Cys	rs782618035	missense variant	-	NC_000007.14:g.142031750T>G	ExAC,gnomAD
MGAM	O43451	p.Asn519Ser	rs570887648	missense variant	-	NC_000007.14:g.142031765A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn519His	rs1194279154	missense variant	-	NC_000007.14:g.142031764A>C	TOPMed
MGAM	O43451	p.Glu522Lys	rs1554463881	missense variant	-	NC_000007.14:g.142031773G>A	-
MGAM	O43451	p.Asp524Gly	rs1259100240	missense variant	-	NC_000007.14:g.142031780A>G	TOPMed
MGAM	O43451	p.Gly525Glu	rs1233061883	missense variant	-	NC_000007.14:g.142031783G>A	TOPMed
MGAM	O43451	p.Ile526Val	rs782319867	missense variant	-	NC_000007.14:g.142031785A>G	ExAC,gnomAD
MGAM	O43451	p.Trp527Gly	rs1554463889	missense variant	-	NC_000007.14:g.142031788T>G	gnomAD
MGAM	O43451	p.Ile528Thr	rs1333251993	missense variant	-	NC_000007.14:g.142031792T>C	TOPMed
MGAM	O43451	p.Asp529Val	rs1554464296	missense variant	-	NC_000007.14:g.142032826A>T	gnomAD
MGAM	O43451	p.Asp529Glu	rs200532183	missense variant	-	NC_000007.14:g.142032827T>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu532Lys	rs781979872	missense variant	-	NC_000007.14:g.142032834G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu532Ter	rs781979872	stop gained	-	NC_000007.14:g.142032834G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser534Cys	rs1554464305	missense variant	-	NC_000007.14:g.142032841C>G	gnomAD
MGAM	O43451	p.Asn535Thr	rs549897232	missense variant	-	NC_000007.14:g.142032844A>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Asp538Val	rs376876129	missense variant	-	NC_000007.14:g.142032853A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser540Leu	rs201161396	missense variant	-	NC_000007.14:g.142032859C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser542Leu	rs10266732	missense variant	-	NC_000007.14:g.142032865C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser542Leu	rs10266732	missense variant	-	NC_000007.14:g.142032865C>T	UniProt,dbSNP
MGAM	O43451	p.Ser542Leu	VAR_047351	missense variant	-	NC_000007.14:g.142032865C>T	UniProt
MGAM	O43451	p.Asn547Asp	rs1554464323	missense variant	-	NC_000007.14:g.142032879A>G	gnomAD
MGAM	O43451	p.Asn547Lys	rs1306671169	missense variant	-	NC_000007.14:g.142032881C>G	TOPMed,gnomAD
MGAM	O43451	p.Asn547Ser	rs782433642	missense variant	-	NC_000007.14:g.142032880A>G	ExAC,gnomAD
MGAM	O43451	p.Asn548Tyr	rs1554464332	missense variant	-	NC_000007.14:g.142032882A>T	gnomAD
MGAM	O43451	p.Pro553Leu	rs782679232	missense variant	-	NC_000007.14:g.142032898C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe554Val	rs1325048739	missense variant	-	NC_000007.14:g.142032900T>G	TOPMed
MGAM	O43451	p.Thr555Ser	rs1554464344	missense variant	-	NC_000007.14:g.142032904C>G	gnomAD
MGAM	O43451	p.Pro556His	rs1554464350	missense variant	-	NC_000007.14:g.142032907C>A	gnomAD
MGAM	O43451	p.Pro556Ser	rs1554464349	missense variant	-	NC_000007.14:g.142032906C>T	gnomAD
MGAM	O43451	p.Leu559Pro	rs1554464937	missense variant	-	NC_000007.14:g.142034268T>C	gnomAD
MGAM	O43451	p.Asp560Asn	rs535382832	missense variant	-	NC_000007.14:g.142034270G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr562Asn	rs782145896	missense variant	-	NC_000007.14:g.142034276T>A	ExAC,gnomAD
MGAM	O43451	p.Cys565Tyr	rs782772053	missense variant	-	NC_000007.14:g.142034286G>A	ExAC,gnomAD
MGAM	O43451	p.Cys565Ter	rs1554464939	stop gained	-	NC_000007.14:g.142034287C>A	gnomAD
MGAM	O43451	p.Lys566Thr	rs1218334885	missense variant	-	NC_000007.14:g.142034289A>C	TOPMed,gnomAD
MGAM	O43451	p.Leu568Pro	rs782503061	missense variant	-	NC_000007.14:g.142034295T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu568Val	rs782167135	missense variant	-	NC_000007.14:g.142034294C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys569Tyr	rs782729423	missense variant	-	NC_000007.14:g.142034298G>A	ExAC,gnomAD
MGAM	O43451	p.Met570Arg	rs1554464956	missense variant	-	NC_000007.14:g.142034301T>G	gnomAD
MGAM	O43451	p.Asp571Gly	rs1554464957	missense variant	-	NC_000007.14:g.142034304A>G	gnomAD
MGAM	O43451	p.Ala572Thr	rs781808897	missense variant	-	NC_000007.14:g.142034306G>A	ExAC,gnomAD
MGAM	O43451	p.His575Arg	rs553850162	missense variant	-	NC_000007.14:g.142034316A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.His575Pro	rs553850162	missense variant	-	NC_000007.14:g.142034316A>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Trp576Ter	rs782684588	stop gained	-	NC_000007.14:g.142034320G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly577Cys	rs1263650229	missense variant	-	NC_000007.14:g.142034321G>T	TOPMed,gnomAD
MGAM	O43451	p.Gln579Glu	rs368127800	missense variant	-	NC_000007.14:g.142034327C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln579His	rs902260519	missense variant	-	NC_000007.14:g.142034329G>C	gnomAD
MGAM	O43451	p.Gln579Lys	rs368127800	missense variant	-	NC_000007.14:g.142034327C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp581Gly	rs1339922914	missense variant	-	NC_000007.14:g.142034334A>G	TOPMed
MGAM	O43451	p.Asp581Asn	rs1554464971	missense variant	-	NC_000007.14:g.142034333G>A	gnomAD
MGAM	O43451	p.Ile582Val	rs572766702	missense variant	-	NC_000007.14:g.142034336A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu585Met	rs1554464979	missense variant	-	NC_000007.14:g.142034345C>A	gnomAD
MGAM	O43451	p.Tyr586Cys	rs1554464981	missense variant	-	NC_000007.14:g.142034349A>G	gnomAD
MGAM	O43451	p.Gly587Asp	rs782205661	missense variant	-	NC_000007.14:g.142034352G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser589Phe	rs1333868241	missense variant	-	NC_000007.14:g.142034358C>T	TOPMed,gnomAD
MGAM	O43451	p.Met590Val	rs782322543	missense variant	-	NC_000007.14:g.142034360A>G	ExAC,gnomAD
MGAM	O43451	p.Ala591Val	rs371945184	missense variant	-	NC_000007.14:g.142034364C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala593Thr	rs183598889	missense variant	-	NC_000007.14:g.142034369G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala595Thr	rs543667858	missense variant	-	NC_000007.14:g.142034375G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala597Ser	rs1554465113	missense variant	-	NC_000007.14:g.142034671G>T	gnomAD
MGAM	O43451	p.Ala597Val	rs868919559	missense variant	-	NC_000007.14:g.142034672C>T	gnomAD
MGAM	O43451	p.Lys599Glu	rs782330752	missense variant	-	NC_000007.14:g.142034677A>G	ExAC,gnomAD
MGAM	O43451	p.Lys599Arg	rs1426103510	missense variant	-	NC_000007.14:g.142034678A>G	TOPMed,gnomAD
MGAM	O43451	p.Phe602Leu	rs1554465123	missense variant	-	NC_000007.14:g.142034688C>G	gnomAD
MGAM	O43451	p.Pro603Ser	rs868914154	missense variant	-	NC_000007.14:g.142034689C>T	-
MGAM	O43451	p.Pro603Leu	rs1554465129	missense variant	-	NC_000007.14:g.142034690C>T	gnomAD
MGAM	O43451	p.Asn604Ser	rs781927352	missense variant	-	NC_000007.14:g.142034693A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys605Glu	rs372853118	missense variant	-	NC_000007.14:g.142034695A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys605Arg	rs1554465132	missense variant	-	NC_000007.14:g.142034696A>G	gnomAD
MGAM	O43451	p.Arg606Gly	rs1409962588	missense variant	-	NC_000007.14:g.142034698A>G	TOPMed
MGAM	O43451	p.Ser607Asn	rs377214911	missense variant	-	NC_000007.14:g.142034702G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser607Arg	rs1177705843	missense variant	-	NC_000007.14:g.142034701A>C	TOPMed
MGAM	O43451	p.Ser607Thr	rs377214911	missense variant	-	NC_000007.14:g.142034702G>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe608Leu	rs1220376062	missense variant	-	NC_000007.14:g.142034704T>C	TOPMed
MGAM	O43451	p.Ile609Val	rs1490889499	missense variant	-	NC_000007.14:g.142034707A>G	TOPMed,gnomAD
MGAM	O43451	p.Thr611Ser	rs782002751	missense variant	-	NC_000007.14:g.142034713A>T	ExAC,gnomAD
MGAM	O43451	p.Arg612His	rs369813631	missense variant	-	NC_000007.14:g.142034717G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg612Cys	rs782122165	missense variant	-	NC_000007.14:g.142034716C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser613Phe	rs781807397	missense variant	-	NC_000007.14:g.142034720C>T	ExAC
MGAM	O43451	p.Ala616Val	rs372476876	missense variant	-	NC_000007.14:g.142034729C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala616Thr	rs547400304	missense variant	-	NC_000007.14:g.142034728G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala616Glu	rs372476876	missense variant	-	NC_000007.14:g.142034729C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly617Val	rs1554465173	missense variant	-	NC_000007.14:g.142034732G>T	gnomAD
MGAM	O43451	p.Ser618Pro	rs1367540562	missense variant	-	NC_000007.14:g.142034734T>C	TOPMed
MGAM	O43451	p.Phe621Leu	rs782618430	missense variant	-	NC_000007.14:g.142034745T>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala622Thr	rs1554465187	missense variant	-	NC_000007.14:g.142034746G>A	gnomAD
MGAM	O43451	p.Ala622Gly	rs1554465193	missense variant	-	NC_000007.14:g.142034747C>G	gnomAD
MGAM	O43451	p.His624Arg	rs551921132	missense variant	-	NC_000007.14:g.142034753A>G	ExAC,gnomAD
MGAM	O43451	p.His624Leu	rs551921132	missense variant	-	NC_000007.14:g.142034753A>T	ExAC,gnomAD
MGAM	O43451	p.Trp625Ter	rs1554465201	stop gained	-	NC_000007.14:g.142034756G>A	gnomAD
MGAM	O43451	p.Asp628Gly	rs539459227	missense variant	-	NC_000007.14:g.142034765A>G	1000Genomes
MGAM	O43451	p.Asp628Glu	rs1554465207	missense variant	-	NC_000007.14:g.142034766C>A	gnomAD
MGAM	O43451	p.Thr630Ser	rs1554465216	missense variant	-	NC_000007.14:g.142034771C>G	gnomAD
MGAM	O43451	p.Thr630Ala	rs1297184013	missense variant	-	NC_000007.14:g.142034770A>G	TOPMed,gnomAD
MGAM	O43451	p.Ala631Asp	rs782592725	missense variant	-	NC_000007.14:g.142034774C>A	ExAC,gnomAD
MGAM	O43451	p.Thr632Ala	rs782423007	missense variant	-	NC_000007.14:g.142034776A>G	ExAC,gnomAD
MGAM	O43451	p.Asp635Glu	rs782259332	missense variant	-	NC_000007.14:g.142034787C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp635Asn	rs782680949	missense variant	-	NC_000007.14:g.142034785G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp635Glu	rs782259332	missense variant	-	NC_000007.14:g.142034787C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu636Met	rs373321374	missense variant	-	NC_000007.14:g.142034788C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg637Ser	rs190777514	missense variant	-	NC_000007.14:g.142034793A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp638Ter	rs782036029	stop gained	-	NC_000007.14:g.142034796G>A	ExAC,gnomAD
MGAM	O43451	p.Trp638Ser	rs201436141	missense variant	-	NC_000007.14:g.142034795G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser639Tyr	rs1554465246	missense variant	-	NC_000007.14:g.142034798C>A	gnomAD
MGAM	O43451	p.Ile640Val	rs782148818	missense variant	-	NC_000007.14:g.142034800A>G	ExAC,gnomAD
MGAM	O43451	p.Pro641Arg	rs782764005	missense variant	-	NC_000007.14:g.142034804C>G	ExAC,gnomAD
MGAM	O43451	p.Gly642Ser	rs1201549873	missense variant	-	NC_000007.14:g.142034806G>A	TOPMed
MGAM	O43451	p.Val643Gly	rs1554465268	missense variant	-	NC_000007.14:g.142034810T>G	gnomAD
MGAM	O43451	p.Val643Met	rs200523868	missense variant	-	NC_000007.14:g.142034809G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu645Asp	rs782738646	missense variant	-	NC_000007.14:g.142034817G>T	ExAC,gnomAD
MGAM	O43451	p.Phe646Cys	rs1193215386	missense variant	-	NC_000007.14:g.142034819T>G	TOPMed
MGAM	O43451	p.Met653Val	rs782440814	missense variant	-	NC_000007.14:g.142034839A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met653Thr	rs1554465292	missense variant	-	NC_000007.14:g.142034840T>C	gnomAD
MGAM	O43451	p.Val654Gly	rs782159903	missense variant	-	NC_000007.14:g.142036170T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro656Ser	rs1402922599	missense variant	-	NC_000007.14:g.142036175C>T	TOPMed
MGAM	O43451	p.Ile658Val	rs782787986	missense variant	-	NC_000007.14:g.142036181A>G	ExAC,gnomAD
MGAM	O43451	p.Cys659Tyr	rs374280812	missense variant	-	NC_000007.14:g.142036185G>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Gly660Ala	rs1554465738	missense variant	-	NC_000007.14:g.142036188G>C	TOPMed
MGAM	O43451	p.Leu663Ser	rs1554465744	missense variant	-	NC_000007.14:g.142036197T>C	gnomAD
MGAM	O43451	p.Thr665Asn	rs1460617216	missense variant	-	NC_000007.14:g.142036203C>A	TOPMed,gnomAD
MGAM	O43451	p.Pro666Thr	rs781810423	missense variant	-	NC_000007.14:g.142036205C>A	ExAC,gnomAD
MGAM	O43451	p.Pro666Ala	rs781810423	missense variant	-	NC_000007.14:g.142036205C>G	ExAC,gnomAD
MGAM	O43451	p.Glu668Gln	rs906124194	missense variant	-	NC_000007.14:g.142036211G>C	TOPMed
MGAM	O43451	p.Cys670Ser	rs1444380400	missense variant	-	NC_000007.14:g.142036218G>C	TOPMed,gnomAD
MGAM	O43451	p.Cys670Tyr	rs1444380400	missense variant	-	NC_000007.14:g.142036218G>A	TOPMed,gnomAD
MGAM	O43451	p.Arg671Gly	rs1554465759	missense variant	-	NC_000007.14:g.142036220A>G	gnomAD
MGAM	O43451	p.Arg671Met	rs370644495	missense variant	-	NC_000007.14:g.142036221G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg672Trp	rs374646574	missense variant	-	NC_000007.14:g.142036223C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg672Gln	rs782608917	missense variant	-	NC_000007.14:g.142036224G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met674Thr	rs1554465769	missense variant	-	NC_000007.14:g.142036230T>C	gnomAD
MGAM	O43451	p.Met674Leu	rs1193602312	missense variant	-	NC_000007.14:g.142036229A>T	TOPMed
MGAM	O43451	p.Leu676Ser	rs1481351168	missense variant	-	NC_000007.14:g.142036236T>C	TOPMed
MGAM	O43451	p.Gly677Arg	rs1554465773	missense variant	-	NC_000007.14:g.142036238G>C	gnomAD
MGAM	O43451	p.Tyr680Phe	rs367841743	missense variant	-	NC_000007.14:g.142036248A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr680Cys	rs367841743	missense variant	-	NC_000007.14:g.142036248A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro681Leu	rs782316099	missense variant	-	NC_000007.14:g.142036251C>T	ExAC,gnomAD
MGAM	O43451	p.Phe682Leu	rs1554465781	missense variant	-	NC_000007.14:g.142036253T>C	gnomAD
MGAM	O43451	p.Ser683Thr	rs1554465785	missense variant	-	NC_000007.14:g.142036256T>A	gnomAD
MGAM	O43451	p.Ser683Phe	rs782294701	missense variant	-	NC_000007.14:g.142036257C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His686Arg	rs782009801	missense variant	-	NC_000007.14:g.142036266A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His686Asp	rs782411551	missense variant	-	NC_000007.14:g.142036265C>G	ExAC,gnomAD
MGAM	O43451	p.His686Asn	rs782411551	missense variant	-	NC_000007.14:g.142036265C>A	ExAC,gnomAD
MGAM	O43451	p.Asn687Ser	rs374754723	missense variant	-	NC_000007.14:g.142036269A>G	ESP,TOPMed
MGAM	O43451	p.Gln689Ter	rs1554465805	stop gained	-	NC_000007.14:g.142036274C>T	gnomAD
MGAM	O43451	p.Gly690Ser	rs1554465807	missense variant	-	NC_000007.14:g.142036277G>A	gnomAD
MGAM	O43451	p.Tyr691Cys	rs1554465808	missense variant	-	NC_000007.14:g.142036281A>G	gnomAD
MGAM	O43451	p.Lys692Arg	rs1554465812	missense variant	-	NC_000007.14:g.142036284A>G	gnomAD
MGAM	O43451	p.Gln694His	rs1554466069	missense variant	-	NC_000007.14:g.142036828G>T	gnomAD
MGAM	O43451	p.Gln694Arg	rs1554466065	missense variant	-	NC_000007.14:g.142036827A>G	gnomAD
MGAM	O43451	p.Pro696Ser	rs1554466078	missense variant	-	NC_000007.14:g.142036832C>T	gnomAD
MGAM	O43451	p.Ala697Val	rs782329716	missense variant	-	NC_000007.14:g.142036836C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala697Thr	rs1554466082	missense variant	-	NC_000007.14:g.142036835G>A	gnomAD
MGAM	O43451	p.Ala697Asp	rs782329716	missense variant	-	NC_000007.14:g.142036836C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe699Leu	rs74975727	missense variant	-	NC_000007.14:g.142036843T>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala701Val	rs142123491	missense variant	-	NC_000007.14:g.142036848C>T	1000Genomes,gnomAD
MGAM	O43451	p.Asp702His	rs782092847	missense variant	-	NC_000007.14:g.142036850G>C	ExAC,gnomAD
MGAM	O43451	p.Leu704Val	rs1157978062	missense variant	-	NC_000007.14:g.142036856C>G	TOPMed,gnomAD
MGAM	O43451	p.Asn707Asp	rs1554466110	missense variant	-	NC_000007.14:g.142036865A>G	gnomAD
MGAM	O43451	p.Ser708Phe	rs868995180	missense variant	-	NC_000007.14:g.142036869C>T	-
MGAM	O43451	p.His711Tyr	rs1554466122	missense variant	-	NC_000007.14:g.142036877C>T	gnomAD
MGAM	O43451	p.His711Gln	rs1554466129	missense variant	-	NC_000007.14:g.142036879C>A	gnomAD
MGAM	O43451	p.Tyr712Cys	rs1249802333	missense variant	-	NC_000007.14:g.142036881A>G	TOPMed,gnomAD
MGAM	O43451	p.Asn714Asp	rs782047805	missense variant	-	NC_000007.14:g.142036886A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile715Leu	rs1554466149	missense variant	-	NC_000007.14:g.142036889A>C	gnomAD
MGAM	O43451	p.Arg716Gly	rs782806699	missense variant	-	NC_000007.14:g.142036892C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg716Cys	rs782806699	missense variant	-	NC_000007.14:g.142036892C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg716His	rs202196208	missense variant	-	NC_000007.14:g.142036893G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg716Leu	rs202196208	missense variant	-	NC_000007.14:g.142036893G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr717Cys	rs782519815	missense variant	-	NC_000007.14:g.142036896A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr718Ile	rs1323927247	missense variant	-	NC_000007.14:g.142036899C>T	TOPMed,gnomAD
MGAM	O43451	p.Leu720Trp	rs782651235	missense variant	-	NC_000007.14:g.142036905T>G	ExAC,gnomAD
MGAM	O43451	p.Leu723Val	rs781838519	missense variant	-	NC_000007.14:g.142036913C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu726Val	rs782588998	missense variant	-	NC_000007.14:g.142036922C>G	ExAC,gnomAD
MGAM	O43451	p.Arg729His	rs116034282	missense variant	-	NC_000007.14:g.142036932G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg729Cys	rs375055229	missense variant	-	NC_000007.14:g.142036931C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala730Val	rs1300952698	missense variant	-	NC_000007.14:g.142036935C>T	TOPMed,gnomAD
MGAM	O43451	p.Ala730Ser	rs782240946	missense variant	-	NC_000007.14:g.142036934G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala730Gly	rs1300952698	missense variant	-	NC_000007.14:g.142036935C>G	TOPMed,gnomAD
MGAM	O43451	p.Arg733Gln	rs1554466209	missense variant	-	NC_000007.14:g.142036944G>A	gnomAD
MGAM	O43451	p.Arg733Ter	rs782352514	stop gained	-	NC_000007.14:g.142036943C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp735Asn	rs782061861	missense variant	-	NC_000007.14:g.142036949G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr736Met	rs199856344	missense variant	-	NC_000007.14:g.142036953C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala738Thr	rs782154878	missense variant	-	NC_000007.14:g.142036958G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg739Ser	rs782797990	missense variant	-	NC_000007.14:g.142036963G>T	ExAC,gnomAD
MGAM	O43451	p.Pro740Leu	rs1489668081	missense variant	-	NC_000007.14:g.142036965C>T	TOPMed
MGAM	O43451	p.Pro740Thr	rs1024229488	missense variant	-	NC_000007.14:g.142036964C>A	TOPMed,gnomAD
MGAM	O43451	p.Pro740Ser	rs1024229488	missense variant	-	NC_000007.14:g.142036964C>T	TOPMed,gnomAD
MGAM	O43451	p.His743Gln	rs782105470	missense variant	-	NC_000007.14:g.142036975T>A	ExAC,gnomAD
MGAM	O43451	p.His743Asp	rs1247661593	missense variant	-	NC_000007.14:g.142036973C>G	TOPMed
MGAM	O43451	p.Tyr746Cys	rs755311644	missense variant	-	NC_000007.14:g.142038536A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu747Gln	rs1427610672	missense variant	-	NC_000007.14:g.142038538G>C	TOPMed,gnomAD
MGAM	O43451	p.Glu747Lys	rs1427610672	missense variant	-	NC_000007.14:g.142038538G>A	TOPMed,gnomAD
MGAM	O43451	p.Glu747Gly	rs748542470	missense variant	-	NC_000007.14:g.142038539A>G	ExAC,gnomAD
MGAM	O43451	p.Asp748Gly	rs1342021155	missense variant	-	NC_000007.14:g.142038542A>G	TOPMed
MGAM	O43451	p.Asp748His	rs1359680000	missense variant	-	NC_000007.14:g.142038541G>C	gnomAD
MGAM	O43451	p.Trp752Cys	rs1282564332	missense variant	-	NC_000007.14:g.142038555G>T	gnomAD
MGAM	O43451	p.Asp753Asn	rs772288267	missense variant	-	NC_000007.14:g.142038556G>A	ExAC,gnomAD
MGAM	O43451	p.Asp753Tyr	rs772288267	missense variant	-	NC_000007.14:g.142038556G>T	ExAC,gnomAD
MGAM	O43451	p.Asp753Glu	rs1229475146	missense variant	-	NC_000007.14:g.142038558T>A	gnomAD
MGAM	O43451	p.His755Tyr	rs113689539	missense variant	-	NC_000007.14:g.142038562C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln757Pro	rs763035955	missense variant	-	NC_000007.14:g.142038569A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln757His	rs201786618	missense variant	-	NC_000007.14:g.142038570G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp760Arg	rs765827662	missense variant	-	NC_000007.14:g.142038577T>C	TOPMed
MGAM	O43451	p.Gly761Trp	rs1235286313	missense variant	-	NC_000007.14:g.142038580G>T	gnomAD
MGAM	O43451	p.Gly763Ser	rs376805556	missense variant	-	NC_000007.14:g.142038586G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu764Phe	rs1475522398	missense variant	-	NC_000007.14:g.142038589C>T	gnomAD
MGAM	O43451	p.Ile766Val	rs906776942	missense variant	-	NC_000007.14:g.142038595A>G	gnomAD
MGAM	O43451	p.Val769Asp	rs750049444	missense variant	-	NC_000007.14:g.142038605T>A	ExAC,gnomAD
MGAM	O43451	p.Glu772Asp	rs1435945116	missense variant	-	NC_000007.14:g.142038615A>C	TOPMed,gnomAD
MGAM	O43451	p.Gly773Ser	rs1219532474	missense variant	-	NC_000007.14:g.142040115G>A	TOPMed
MGAM	O43451	p.Gly773Val	rs768666141	missense variant	-	NC_000007.14:g.142040116G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly773Asp	rs768666141	missense variant	-	NC_000007.14:g.142040116G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala774Thr	rs774448466	missense variant	-	NC_000007.14:g.142040118G>A	ExAC,gnomAD
MGAM	O43451	p.Ala774Glu	rs747913972	missense variant	-	NC_000007.14:g.142040119C>A	ExAC,gnomAD
MGAM	O43451	p.Glu775Lys	rs771831942	missense variant	-	NC_000007.14:g.142040121G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu775Gln	rs771831942	missense variant	-	NC_000007.14:g.142040121G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys776Glu	rs1230766400	missense variant	-	NC_000007.14:g.142040124A>G	gnomAD
MGAM	O43451	p.Lys776Gln	rs1230766400	missense variant	-	NC_000007.14:g.142040124A>C	gnomAD
MGAM	O43451	p.Lys776Arg	rs772908334	missense variant	-	NC_000007.14:g.142040125A>G	ExAC,gnomAD
MGAM	O43451	p.Lys776Thr	rs772908334	missense variant	-	NC_000007.14:g.142040125A>C	ExAC,gnomAD
MGAM	O43451	p.Val777Met	rs1347890132	missense variant	-	NC_000007.14:g.142040127G>A	gnomAD
MGAM	O43451	p.Val781Met	rs1267649496	missense variant	-	NC_000007.14:g.142040139G>A	gnomAD
MGAM	O43451	p.Pro782His	rs1452906127	missense variant	-	NC_000007.14:g.142040143C>A	gnomAD
MGAM	O43451	p.Ala784Val	rs1267900787	missense variant	-	NC_000007.14:g.142040149C>T	gnomAD
MGAM	O43451	p.Ala784Thr	rs766048225	missense variant	-	NC_000007.14:g.142040148G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr787Asn	rs374895549	missense variant	-	NC_000007.14:g.142040157T>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr789Ter	rs371423578	stop gained	-	NC_000007.14:g.142040165C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu790Gly	rs753269154	missense variant	-	NC_000007.14:g.142040167A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu790Lys	rs1163875284	missense variant	-	NC_000007.14:g.142040166G>A	gnomAD
MGAM	O43451	p.Glu790Ala	rs753269154	missense variant	-	NC_000007.14:g.142040167A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly792Glu	rs538201085	missense variant	-	NC_000007.14:g.142040723G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly792Trp	rs1258407739	missense variant	-	NC_000007.14:g.142040722G>T	gnomAD
MGAM	O43451	p.Ser793Asn	rs767785374	missense variant	-	NC_000007.14:g.142040726G>A	ExAC,gnomAD
MGAM	O43451	p.Trp797Arg	rs756252544	missense variant	-	NC_000007.14:g.142040737T>C	ExAC,gnomAD
MGAM	O43451	p.Arg798Trp	rs1168847021	missense variant	-	NC_000007.14:g.142040740A>T	gnomAD
MGAM	O43451	p.Lys799Thr	rs1372860929	missense variant	-	NC_000007.14:g.142040744A>C	gnomAD
MGAM	O43451	p.Lys799Glu	rs780332451	missense variant	-	NC_000007.14:g.142040743A>G	ExAC
MGAM	O43451	p.Glu803Lys	rs979538717	missense variant	-	NC_000007.14:g.142040755G>A	TOPMed,gnomAD
MGAM	O43451	p.Met804Thr	rs1218992894	missense variant	-	NC_000007.14:g.142040759T>C	TOPMed
MGAM	O43451	p.Met804Leu	rs1251985936	missense variant	-	NC_000007.14:g.142040758A>T	TOPMed
MGAM	O43451	p.Glu805Gly	rs374820212	missense variant	-	NC_000007.14:g.142040762A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro807Ser	rs267601325	missense variant	-	NC_000007.14:g.142040767C>T	TOPMed
MGAM	O43451	p.Gly808Arg	rs1335413349	missense variant	-	NC_000007.14:g.142040770G>A	gnomAD
MGAM	O43451	p.Asp809Tyr	rs1230148739	missense variant	-	NC_000007.14:g.142040773G>T	gnomAD
MGAM	O43451	p.Ile811Thr	rs187975007	missense variant	-	NC_000007.14:g.142040780T>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His814Gln	rs770778815	missense variant	-	NC_000007.14:g.142040790C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg816Ter	rs368880817	stop gained	-	NC_000007.14:g.142040794C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg816Pro	rs947903146	missense variant	-	NC_000007.14:g.142040795G>C	gnomAD
MGAM	O43451	p.Arg816Gln	rs947903146	missense variant	-	NC_000007.14:g.142040795G>A	gnomAD
MGAM	O43451	p.Gly817Glu	rs1203125893	missense variant	-	NC_000007.14:g.142040798G>A	gnomAD
MGAM	O43451	p.Gly818Ser	rs373524046	missense variant	-	NC_000007.14:g.142040800G>A	ESP,TOPMed
MGAM	O43451	p.Gly818Arg	rs373524046	missense variant	-	NC_000007.14:g.142040800G>C	ESP,TOPMed
MGAM	O43451	p.Gly818Asp	rs1332554660	missense variant	-	NC_000007.14:g.142040801G>A	gnomAD
MGAM	O43451	p.Tyr819Cys	rs745567095	missense variant	-	NC_000007.14:g.142040804A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr819Ser	rs745567095	missense variant	-	NC_000007.14:g.142040804A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile820Met	rs1184969263	missense variant	-	NC_000007.14:g.142040808C>G	gnomAD
MGAM	O43451	p.Ile820Val	rs1466471174	missense variant	-	NC_000007.14:g.142040806A>G	TOPMed,gnomAD
MGAM	O43451	p.Thr823Lys	rs769261294	missense variant	-	NC_000007.14:g.142040816C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln824Lys	rs1359110175	missense variant	-	NC_000007.14:g.142040818C>A	TOPMed
MGAM	O43451	p.Gln824Leu	rs1178640473	missense variant	-	NC_000007.14:g.142040819A>T	gnomAD
MGAM	O43451	p.Gln825Lys	rs148440972	missense variant	-	NC_000007.14:g.142040821C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr828Lys	rs762548545	missense variant	-	NC_000007.14:g.142040831C>A	ExAC,gnomAD
MGAM	O43451	p.Thr829Ser	rs768988456	missense variant	-	NC_000007.14:g.142040833A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr830Pro	rs774927808	missense variant	-	NC_000007.14:g.142040836A>C	ExAC,gnomAD
MGAM	O43451	p.Thr830Ile	rs1432514373	missense variant	-	NC_000007.14:g.142040837C>T	TOPMed,gnomAD
MGAM	O43451	p.Ala832Val	rs768055689	missense variant	-	NC_000007.14:g.142040843C>T	ExAC,gnomAD
MGAM	O43451	p.Ala832Asp	rs768055689	missense variant	-	NC_000007.14:g.142040843C>A	ExAC,gnomAD
MGAM	O43451	p.Ala832Pro	rs762268083	missense variant	-	NC_000007.14:g.142040842G>C	ExAC,gnomAD
MGAM	O43451	p.Ala832Thr	rs762268083	missense variant	-	NC_000007.14:g.142040842G>A	ExAC,gnomAD
MGAM	O43451	p.Ser833Asn	rs750654956	missense variant	-	NC_000007.14:g.142040846G>A	ExAC,gnomAD
MGAM	O43451	p.Arg834Ter	rs147987126	stop gained	-	NC_000007.14:g.142047786C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg834Gln	rs778528944	missense variant	-	NC_000007.14:g.142047787G>A	ExAC,gnomAD
MGAM	O43451	p.Asn836Lys	rs1356222551	missense variant	-	NC_000007.14:g.142047794C>A	gnomAD
MGAM	O43451	p.Pro837Leu	rs1258261741	missense variant	-	NC_000007.14:g.142047796C>T	TOPMed
MGAM	O43451	p.Pro837Ala	rs368897231	missense variant	-	NC_000007.14:g.142047795C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro837Thr	rs368897231	missense variant	-	NC_000007.14:g.142047795C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu838Ile	rs1294962260	missense variant	-	NC_000007.14:g.142047798C>A	TOPMed
MGAM	O43451	p.Gly839Val	rs773857751	missense variant	-	NC_000007.14:g.142047802G>T	ExAC,gnomAD
MGAM	O43451	p.Gly839Ser	rs556685550	missense variant	-	NC_000007.14:g.142047801G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Leu840Pro	rs1229615324	missense variant	-	NC_000007.14:g.142047805T>C	gnomAD
MGAM	O43451	p.Ala843Thr	rs771380682	missense variant	-	NC_000007.14:g.142047813G>A	ExAC,gnomAD
MGAM	O43451	p.Leu844Pro	rs574870049	missense variant	-	NC_000007.14:g.142047817T>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Glu849Lys	rs775500483	missense variant	-	NC_000007.14:g.142047831G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu849Gly	rs201270012	missense variant	-	NC_000007.14:g.142047832A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala850Thr	rs767376034	missense variant	-	NC_000007.14:g.142047834G>A	ExAC
MGAM	O43451	p.Leu854Phe	rs200141280	missense variant	-	NC_000007.14:g.142047846C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu854Ile	rs200141280	missense variant	-	NC_000007.14:g.142047846C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp856Leu	rs766250572	missense variant	-	NC_000007.14:g.142047853G>T	ExAC,gnomAD
MGAM	O43451	p.Trp856Arg	rs371715948	missense variant	-	NC_000007.14:g.142047852T>C	ESP,ExAC,TOPMed
MGAM	O43451	p.Asp857Asn	rs753403339	missense variant	-	NC_000007.14:g.142047855G>A	ExAC,gnomAD
MGAM	O43451	p.Asn858Asp	rs2960746	missense variant	-	NC_000007.14:g.142047858A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly859Ala	rs367922659	missense variant	-	NC_000007.14:g.142047862G>C	ESP,TOPMed,gnomAD
MGAM	O43451	p.Glu860Lys	rs778719364	missense variant	-	NC_000007.14:g.142047864G>A	ExAC,gnomAD
MGAM	O43451	p.Thr861Arg	rs371863994	missense variant	-	NC_000007.14:g.142047868C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr861Lys	rs371863994	missense variant	-	NC_000007.14:g.142047868C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr861Met	rs371863994	missense variant	-	NC_000007.14:g.142047868C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys862Arg	rs1382378208	missense variant	-	NC_000007.14:g.142047871A>G	gnomAD
MGAM	O43451	p.Asp863Asn	rs374784553	missense variant	-	NC_000007.14:g.142047873G>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Thr864Ile	rs752451969	missense variant	-	NC_000007.14:g.142050238C>T	ExAC,gnomAD
MGAM	O43451	p.Asn867Ser	rs757956465	missense variant	-	NC_000007.14:g.142050247A>G	ExAC,gnomAD
MGAM	O43451	p.Asn867Lys	rs2961087	missense variant	-	NC_000007.14:g.142050248T>G	TOPMed
MGAM	O43451	p.Asn867Thr	rs757956465	missense variant	-	NC_000007.14:g.142050247A>C	ExAC,gnomAD
MGAM	O43451	p.Asn867Asp	rs1016579416	missense variant	-	NC_000007.14:g.142050246A>G	TOPMed
MGAM	O43451	p.Val869Leu	rs1192270770	missense variant	-	NC_000007.14:g.142050252G>T	gnomAD
MGAM	O43451	p.Cys873Trp	rs768578658	missense variant	-	NC_000007.14:g.142050266T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser876Phe	rs1324062233	missense variant	-	NC_000007.14:g.142050274C>T	TOPMed
MGAM	O43451	p.Val877Leu	rs770210571	missense variant	-	NC_000007.14:g.142050276G>C	ExAC,gnomAD
MGAM	O43451	p.Val877Ala	rs1383104101	missense variant	-	NC_000007.14:g.142050277T>C	gnomAD
MGAM	O43451	p.Asn880Asp	rs775376917	missense variant	-	NC_000007.14:g.142050697A>G	ExAC,gnomAD
MGAM	O43451	p.Arg881Cys	rs201733895	missense variant	-	NC_000007.14:g.142050700C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg881His	rs749949340	missense variant	-	NC_000007.14:g.142050701G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg881Leu	rs749949340	missense variant	-	NC_000007.14:g.142050701G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val884Met	rs1207484947	missense variant	-	NC_000007.14:g.142050709G>A	gnomAD
MGAM	O43451	p.Asn885Thr	rs374204300	missense variant	-	NC_000007.14:g.142050713A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln888Arg	rs766985240	missense variant	-	NC_000007.14:g.142050722A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr890Asn	rs750913774	missense variant	-	NC_000007.14:g.142050728C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr891Cys	rs1168367656	missense variant	-	NC_000007.14:g.142050731A>G	TOPMed
MGAM	O43451	p.Asn895Ser	rs200893409	missense variant	-	NC_000007.14:g.142050743A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu897Phe	rs1248852726	missense variant	-	NC_000007.14:g.142050750A>T	TOPMed
MGAM	O43451	p.Leu897Ser	rs766895812	missense variant	-	NC_000007.14:g.142050749T>C	ExAC,gnomAD
MGAM	O43451	p.Asn900Ser	rs1338618493	missense variant	-	NC_000007.14:g.142050758A>G	gnomAD
MGAM	O43451	p.Glu901Gln	rs534301777	missense variant	-	NC_000007.14:g.142050760G>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Leu905Ile	rs371591084	missense variant	-	NC_000007.14:g.142050772C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly906Trp	rs758469281	missense variant	-	NC_000007.14:g.142050775G>T	ExAC,gnomAD
MGAM	O43451	p.Thr907Met	rs187898444	missense variant	-	NC_000007.14:g.142050779C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu909Asp	rs1342317223	missense variant	-	NC_000007.14:g.142050786A>C	TOPMed
MGAM	O43451	p.Pro910Leu	rs769794141	missense variant	-	NC_000007.14:g.142050788C>T	ExAC,gnomAD
MGAM	O43451	p.Ser911Thr	rs775571398	missense variant	-	NC_000007.14:g.142050791G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser911Asn	rs775571398	missense variant	-	NC_000007.14:g.142050791G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val913Ile	rs1456471736	missense variant	-	NC_000007.14:g.142050796G>A	TOPMed,gnomAD
MGAM	O43451	p.Thr914Ile	rs1373032416	missense variant	-	NC_000007.14:g.142050800C>T	gnomAD
MGAM	O43451	p.Val915Leu	rs761413101	missense variant	-	NC_000007.14:g.142050802G>T	ExAC,gnomAD
MGAM	O43451	p.Asn918Lys	rs145430437	missense variant	-	NC_000007.14:g.142050813T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly919Asp	rs575790209	missense variant	-	NC_000007.14:g.142050815G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val920Ile	rs760193866	missense variant	-	NC_000007.14:g.142050817G>A	ExAC,gnomAD
MGAM	O43451	p.Gln923Ter	rs200498907	stop gained	-	NC_000007.14:g.142050826C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr924Ala	rs754398347	missense variant	-	NC_000007.14:g.142050829A>G	ExAC,gnomAD
MGAM	O43451	p.Thr924Pro	rs754398347	missense variant	-	NC_000007.14:g.142050829A>C	ExAC,gnomAD
MGAM	O43451	p.Thr924Ile	rs1463574738	missense variant	-	NC_000007.14:g.142050830C>T	TOPMed
MGAM	O43451	p.Pro926Ser	rs1325829429	missense variant	-	NC_000007.14:g.142050835C>T	gnomAD
MGAM	O43451	p.Thr927Pro	rs765556358	missense variant	-	NC_000007.14:g.142050838A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr927Ala	rs765556358	missense variant	-	NC_000007.14:g.142050838A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr927Ile	rs753133766	missense variant	-	NC_000007.14:g.142050839C>T	ExAC,gnomAD
MGAM	O43451	p.Thr929Ile	rs1321529491	missense variant	-	NC_000007.14:g.142050845C>T	gnomAD
MGAM	O43451	p.Tyr930Cys	rs1203045133	missense variant	-	NC_000007.14:g.142050848A>G	TOPMed,gnomAD
MGAM	O43451	p.Leu934Met	rs1261564245	missense variant	-	NC_000007.14:g.142050859C>A	gnomAD
MGAM	O43451	p.Lys935Arg	rs1486944113	missense variant	-	NC_000007.14:g.142050863A>G	TOPMed,gnomAD
MGAM	O43451	p.Val936Phe	rs751889879	missense variant	-	NC_000007.14:g.142052294G>T	ExAC,gnomAD
MGAM	O43451	p.Ala937Thr	rs191173315	missense variant	-	NC_000007.14:g.142052297G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile938Val	rs1306564536	missense variant	-	NC_000007.14:g.142052300A>G	TOPMed,gnomAD
MGAM	O43451	p.Ile938Leu	rs1306564536	missense variant	-	NC_000007.14:g.142052300A>C	TOPMed,gnomAD
MGAM	O43451	p.Asp941Asn	rs1248651160	missense variant	-	NC_000007.14:g.142052309G>A	TOPMed,gnomAD
MGAM	O43451	p.Asp941His	rs1248651160	missense variant	-	NC_000007.14:g.142052309G>C	TOPMed,gnomAD
MGAM	O43451	p.Ile942Thr	rs754826511	missense variant	-	NC_000007.14:g.142052313T>C	ExAC,gnomAD
MGAM	O43451	p.Asp943Asn	rs747835199	missense variant	-	NC_000007.14:g.142052315G>A	ExAC,gnomAD
MGAM	O43451	p.Asp943Gly	rs1423313024	missense variant	-	NC_000007.14:g.142052316A>G	TOPMed
MGAM	O43451	p.Leu945Phe	rs777378634	missense variant	-	NC_000007.14:g.142052321C>T	ExAC,gnomAD
MGAM	O43451	p.Leu945His	rs1469080553	missense variant	-	NC_000007.14:g.142052322T>A	TOPMed
MGAM	O43451	p.Gly947Arg	rs746699052	missense variant	-	NC_000007.14:g.142052327G>A	ExAC,gnomAD
MGAM	O43451	p.Thr951Ala	rs180749383	missense variant	-	NC_000007.14:g.142052339A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr951Ile	rs776066701	missense variant	-	NC_000007.14:g.142052340C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr951Arg	rs776066701	missense variant	-	NC_000007.14:g.142052340C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu953Lys	rs776130546	missense variant	-	NC_000007.14:g.142052345G>A	ExAC,gnomAD
MGAM	O43451	p.Glu953Gln	rs776130546	missense variant	-	NC_000007.14:g.142052345G>C	ExAC,gnomAD
MGAM	O43451	p.Ser955Asn	rs751800690	missense variant	-	NC_000007.14:g.142052352G>A	ExAC,gnomAD
MGAM	O43451	p.Ser955Cys	rs764603605	missense variant	-	NC_000007.14:g.142052351A>T	ExAC,gnomAD
MGAM	O43451	p.Ile956Leu	rs767877732	missense variant	-	NC_000007.14:g.142052354A>T	ExAC,gnomAD
MGAM	O43451	p.Ile958Thr	rs750414725	missense variant	-	NC_000007.14:g.142052361T>C	ExAC,gnomAD
MGAM	O43451	p.Glu962Gly	rs1461545242	missense variant	-	NC_000007.14:g.142052373A>G	gnomAD
MGAM	O43451	p.Ile964Leu	rs1185035115	missense variant	-	NC_000007.14:g.142052378A>C	gnomAD
MGAM	O43451	p.Ile964Val	rs1185035115	missense variant	-	NC_000007.14:g.142052378A>G	gnomAD
MGAM	O43451	p.Asp965Asn	rs756226556	missense variant	-	NC_000007.14:g.142052381G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp965Tyr	rs756226556	missense variant	-	NC_000007.14:g.142052381G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys966Ser	rs1052186356	missense variant	-	NC_000007.14:g.142052385G>C	TOPMed,gnomAD
MGAM	O43451	p.Cys966Arg	rs1186847866	missense variant	-	NC_000007.14:g.142052384T>C	gnomAD
MGAM	O43451	p.Cys966Ser	rs1186847866	missense variant	-	NC_000007.14:g.142052384T>A	gnomAD
MGAM	O43451	p.Pro968Ala	rs1170107519	missense variant	-	NC_000007.14:g.142052390C>G	gnomAD
MGAM	O43451	p.Pro968Leu	rs1406912099	missense variant	-	NC_000007.14:g.142052391C>T	gnomAD
MGAM	O43451	p.Glu970Lys	rs377088094	missense variant	-	NC_000007.14:g.142052396G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn971Asp	rs199621773	missense variant	-	NC_000007.14:g.142052399A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly972Arg	rs746825641	missense variant	-	NC_000007.14:g.142052402G>C	ExAC,gnomAD
MGAM	O43451	p.Ala973Asp	rs550361154	missense variant	-	NC_000007.14:g.142052406C>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala973Thr	rs1360539571	missense variant	-	NC_000007.14:g.142052405G>A	gnomAD
MGAM	O43451	p.Ser974Phe	rs372426741	missense variant	-	NC_000007.14:g.142052409C>T	ESP,TOPMed,gnomAD
MGAM	O43451	p.Ser974Cys	rs372426741	missense variant	-	NC_000007.14:g.142052409C>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Ala975Ser	rs370898028	missense variant	-	NC_000007.14:g.142052411G>T	ESP,ExAC,gnomAD
MGAM	O43451	p.Glu976Ala	rs116536012	missense variant	-	NC_000007.14:g.142052415A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu976Lys	rs775838690	missense variant	-	NC_000007.14:g.142052414G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys978Arg	rs1394181284	missense variant	-	NC_000007.14:g.142052420T>C	gnomAD
MGAM	O43451	p.Thr979Ala	rs1389822438	missense variant	-	NC_000007.14:g.142052423A>G	TOPMed
MGAM	O43451	p.Ala980Thr	rs774808565	missense variant	-	NC_000007.14:g.142052426G>A	ExAC,gnomAD
MGAM	O43451	p.Arg981Cys	rs146202976	missense variant	-	NC_000007.14:g.142052429C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg981His	rs199504784	missense variant	-	NC_000007.14:g.142052430G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile984Asn	rs773554487	missense variant	-	NC_000007.14:g.142052439T>A	ExAC,gnomAD
MGAM	O43451	p.Trp985Cys	rs760661457	missense variant	-	NC_000007.14:g.142052443G>C	ExAC,gnomAD
MGAM	O43451	p.Ala987Thr	rs1160704031	missense variant	-	NC_000007.14:g.142052784G>A	TOPMed
MGAM	O43451	p.Asn989Ser	rs565688553	missense variant	-	NC_000007.14:g.142052791A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn989Asp	rs1470247194	missense variant	-	NC_000007.14:g.142052790A>G	TOPMed
MGAM	O43451	p.Ser990Cys	rs1439293104	missense variant	-	NC_000007.14:g.142052794C>G	gnomAD
MGAM	O43451	p.Ser990Phe	rs1439293104	missense variant	-	NC_000007.14:g.142052794C>T	gnomAD
MGAM	O43451	p.Ser991Pro	rs764012099	missense variant	-	NC_000007.14:g.142052796T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser991Thr	rs764012099	missense variant	-	NC_000007.14:g.142052796T>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys996Phe	rs1423358565	missense variant	-	NC_000007.14:g.142052812G>T	gnomAD
MGAM	O43451	p.Tyr997Ter	rs1391488770	stop gained	-	NC_000007.14:g.142052816T>G	TOPMed,gnomAD
MGAM	O43451	p.Tyr997Phe	rs1397790758	missense variant	-	NC_000007.14:g.142052815A>T	gnomAD
MGAM	O43451	p.Val999Phe	rs761573383	missense variant	-	NC_000007.14:g.142052820G>T	ExAC,gnomAD
MGAM	O43451	p.Val999Ile	rs761573383	missense variant	-	NC_000007.14:g.142052820G>A	ExAC,gnomAD
MGAM	O43451	p.Val999Ala	rs1253340055	missense variant	-	NC_000007.14:g.142052821T>C	TOPMed
MGAM	O43451	p.Asn1000Ser	rs1374252643	missense variant	-	NC_000007.14:g.142052824A>G	gnomAD
MGAM	O43451	p.Asn1000Lys	rs374732273	missense variant	-	NC_000007.14:g.142052825C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1001Asn	rs750216590	missense variant	-	NC_000007.14:g.142052826G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1001Glu	rs1269993813	missense variant	-	NC_000007.14:g.142052828C>A	TOPMed
MGAM	O43451	p.Asp1001Gly	rs755745000	missense variant	-	NC_000007.14:g.142052827A>G	ExAC,gnomAD
MGAM	O43451	p.Leu1002Val	rs779588141	missense variant	-	NC_000007.14:g.142052829C>G	ExAC,gnomAD
MGAM	O43451	p.Val1005Leu	rs1339937102	missense variant	-	NC_000007.14:g.142052838G>C	gnomAD
MGAM	O43451	p.Val1005Ala	rs368535316	missense variant	-	NC_000007.14:g.142052839T>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1006Ile	rs1457534436	missense variant	-	NC_000007.14:g.142052842G>T	gnomAD
MGAM	O43451	p.Asp1007Asn	rs372595232	missense variant	-	NC_000007.14:g.142052844G>A	ESP
MGAM	O43451	p.Asp1007Gly	rs1184422107	missense variant	-	NC_000007.14:g.142052845A>G	gnomAD
MGAM	O43451	p.Gln1009Arg	rs1369336045	missense variant	-	NC_000007.14:g.142052851A>G	gnomAD
MGAM	O43451	p.Tyr1010Cys	rs1373499992	missense variant	-	NC_000007.14:g.142052854A>G	TOPMed
MGAM	O43451	p.Ser1012Phe	rs141712469	missense variant	-	NC_000007.14:g.142052860C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1012Cys	rs141712469	missense variant	-	NC_000007.14:g.142052860C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1013Arg	rs1172277481	missense variant	-	NC_000007.14:g.142052863A>G	gnomAD
MGAM	O43451	p.His1013Gln	rs1259282185	missense variant	-	NC_000007.14:g.142052864T>G	gnomAD
MGAM	O43451	p.His1013Tyr	rs556296527	missense variant	-	NC_000007.14:g.142052862C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1015Thr	rs1397484459	missense variant	-	NC_000007.14:g.142052868G>A	gnomAD
MGAM	O43451	p.Ala1015Val	rs372193855	missense variant	-	NC_000007.14:g.142052869C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1019Val	rs1336988925	missense variant	-	NC_000007.14:g.142052880A>G	gnomAD
MGAM	O43451	p.Lys1022Thr	rs759597075	missense variant	-	NC_000007.14:g.142052890A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1022Asn	rs769909883	missense variant	-	NC_000007.14:g.142052891G>C	ExAC,gnomAD
MGAM	O43451	p.Ser1023Phe	rs1478782787	missense variant	-	NC_000007.14:g.142052893C>T	TOPMed
MGAM	O43451	p.Ser1023Thr	rs1170318512	missense variant	-	NC_000007.14:g.142052892T>A	TOPMed
MGAM	O43451	p.Ser1024Phe	rs774241019	missense variant	-	NC_000007.14:g.142052896C>T	ExAC,gnomAD
MGAM	O43451	p.Val1025Ile	rs369372605	missense variant	-	NC_000007.14:g.142052898G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1026His	rs879240596	missense variant	-	NC_000007.14:g.142052901T>C	gnomAD
MGAM	O43451	p.Ala1027Thr	rs750175325	missense variant	-	NC_000007.14:g.142052904G>A	ExAC,gnomAD
MGAM	O43451	p.Ala1027Gly	rs1190814491	missense variant	-	NC_000007.14:g.142052905C>G	gnomAD
MGAM	O43451	p.Asn1028Ser	rs375330398	missense variant	-	NC_000007.14:g.142052908A>G	gnomAD
MGAM	O43451	p.Ala1029Val	rs1265261649	missense variant	-	NC_000007.14:g.142052911C>T	gnomAD
MGAM	O43451	p.Ser1032Cys	rs753606617	missense variant	-	NC_000007.14:g.142052920C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1032Tyr	rs753606617	missense variant	-	NC_000007.14:g.142052920C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1033Ile	rs560292735	missense variant	-	NC_000007.14:g.142052923C>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Thr1033Ala	rs187645172	missense variant	-	NC_000007.14:g.142052922A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1035Met	rs369972042	missense variant	-	NC_000007.14:g.142052928G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1036Lys	rs150559219	missense variant	-	NC_000007.14:g.142052933C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1037Thr	rs564600502	missense variant	-	NC_000007.14:g.142052934C>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Pro1037Ser	rs564600502	missense variant	-	NC_000007.14:g.142052934C>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Leu1038His	rs763035134	missense variant	-	NC_000007.14:g.142052938T>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1039His	rs139662456	missense variant	-	NC_000007.14:g.142052941G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1039Cys	rs750930085	missense variant	-	NC_000007.14:g.142052940C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1039Leu	rs139662456	missense variant	-	NC_000007.14:g.142052941G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1041His	rs1285241391	missense variant	-	NC_000007.14:g.142052946G>C	gnomAD
MGAM	O43451	p.Thr1043Ser	rs766139452	missense variant	-	NC_000007.14:g.142052952A>T	ExAC,gnomAD
MGAM	O43451	p.Thr1043Ile	rs1232791756	missense variant	-	NC_000007.14:g.142052953C>T	TOPMed,gnomAD
MGAM	O43451	p.Tyr1044Ter	rs752471950	stop gained	-	NC_000007.14:g.142052957C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1045Pro	rs376565637	missense variant	-	NC_000007.14:g.142052959A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1045Arg	rs376565637	missense variant	-	NC_000007.14:g.142052959A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1046Asn	rs1217310491	missense variant	-	NC_000007.14:g.142052963G>C	TOPMed,gnomAD
MGAM	O43451	p.Glu1048Asp	rs752184441	missense variant	-	NC_000007.14:g.142052969A>C	ExAC,gnomAD
MGAM	O43451	p.Met1049Thr	rs1426658697	missense variant	-	NC_000007.14:g.142052971T>C	gnomAD
MGAM	O43451	p.Met1049Leu	rs761137030	missense variant	-	NC_000007.14:g.142052970A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1049Ile	rs1322413551	missense variant	-	NC_000007.14:g.142052972G>C	gnomAD
MGAM	O43451	p.Gln1051Arg	rs752054058	missense variant	-	NC_000007.14:g.142052977A>G	ExAC,gnomAD
MGAM	O43451	p.Phe1052Leu	rs1340327741	missense variant	-	NC_000007.14:g.142052981C>G	TOPMed
MGAM	O43451	p.Lys1053Arg	rs757610053	missense variant	-	NC_000007.14:g.142052983A>G	ExAC,gnomAD
MGAM	O43451	p.Ile1054Val	rs1379444864	missense variant	-	NC_000007.14:g.142054754A>G	gnomAD
MGAM	O43451	p.Tyr1055Ser	rs750720862	missense variant	-	NC_000007.14:g.142054758A>C	ExAC,gnomAD
MGAM	O43451	p.Tyr1055Asn	rs1444833248	missense variant	-	NC_000007.14:g.142054757T>A	gnomAD
MGAM	O43451	p.Asp1056Glu	rs756540037	missense variant	-	NC_000007.14:g.142054762T>A	ExAC,gnomAD
MGAM	O43451	p.Asp1056Tyr	rs1219135693	missense variant	-	NC_000007.14:g.142054760G>T	TOPMed
MGAM	O43451	p.Pro1057Ser	rs780243925	missense variant	-	NC_000007.14:g.142054763C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1057Arg	rs1280104854	missense variant	-	NC_000007.14:g.142054764C>G	TOPMed
MGAM	O43451	p.Asn1058Lys	rs374510544	missense variant	-	NC_000007.14:g.142054768C>A	ESP,TOPMed,gnomAD
MGAM	O43451	p.Asn1058Asp	rs1232488183	missense variant	-	NC_000007.14:g.142054766A>G	TOPMed
MGAM	O43451	p.Lys1059Asn	rs371468966	missense variant	-	NC_000007.14:g.142054771G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1059Asn	rs371468966	missense variant	-	NC_000007.14:g.142054771G>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1060Ser	rs544377960	missense variant	-	NC_000007.14:g.142054773A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1061Gln	rs1458860849	missense variant	-	NC_000007.14:g.142054776G>A	TOPMed,gnomAD
MGAM	O43451	p.Arg1061Trp	rs533260845	missense variant	-	NC_000007.14:g.142054775C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1062His	rs187047261	missense variant	-	NC_000007.14:g.142054778T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1063Asp	rs776774087	missense variant	-	NC_000007.14:g.142054783A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1064Ile	rs745642247	missense variant	-	NC_000007.14:g.142054784G>A	ExAC,gnomAD
MGAM	O43451	p.Val1064Ala	rs1411602274	missense variant	-	NC_000007.14:g.142054785T>C	TOPMed,gnomAD
MGAM	O43451	p.Pro1065Ser	rs1423141462	missense variant	-	NC_000007.14:g.142054787C>T	gnomAD
MGAM	O43451	p.Pro1067Leu	rs372065250	missense variant	-	NC_000007.14:g.142054794C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1069Lys	rs1402638772	missense variant	-	NC_000007.14:g.142054801C>A	TOPMed
MGAM	O43451	p.Met1073Val	rs566877632	missense variant	-	NC_000007.14:g.142054811A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1074Gln	rs762472000	missense variant	-	NC_000007.14:g.142054815C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1074Leu	rs762472000	missense variant	-	NC_000007.14:g.142054815C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1075Pro	rs768376974	missense variant	-	NC_000007.14:g.142054817T>C	ExAC,gnomAD
MGAM	O43451	p.Thr1077Ser	rs1195883873	missense variant	-	NC_000007.14:g.142054823A>T	TOPMed
MGAM	O43451	p.Pro1078His	rs1215656720	missense variant	-	NC_000007.14:g.142054827C>A	gnomAD
MGAM	O43451	p.Pro1078Ser	rs768009854	missense variant	-	NC_000007.14:g.142054826C>T	ExAC,gnomAD
MGAM	O43451	p.Glu1079Gln	rs145885349	missense variant	-	NC_000007.14:g.142054829G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1079Lys	rs145885349	missense variant	-	NC_000007.14:g.142054829G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1081Glu	rs201314573	missense variant	-	NC_000007.14:g.142054835C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1082Val	rs1444556442	missense variant	-	NC_000007.14:g.142054838C>G	TOPMed
MGAM	O43451	p.Leu1082His	rs1196166927	missense variant	-	NC_000007.14:g.142054839T>A	gnomAD
MGAM	O43451	p.Tyr1083His	rs754264280	missense variant	-	NC_000007.14:g.142054841T>C	ExAC,gnomAD
MGAM	O43451	p.Tyr1083Ter	rs779196441	stop gained	-	NC_000007.14:g.142054843T>A	ExAC,gnomAD
MGAM	O43451	p.Tyr1083Cys	rs755093530	missense variant	-	NC_000007.14:g.142054842A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1084Val	rs1235516893	missense variant	-	NC_000007.14:g.142054845A>T	gnomAD
MGAM	O43451	p.Lys1089Glu	rs369315124	missense variant	-	NC_000007.14:g.142054859A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe1092Ser	rs769882031	missense variant	-	NC_000007.14:g.142054869T>C	ExAC,gnomAD
MGAM	O43451	p.Phe1092Leu	rs545704228	missense variant	-	NC_000007.14:g.142054868T>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Gly1093Glu	rs779664504	missense variant	-	NC_000007.14:g.142054872G>A	ExAC,gnomAD
MGAM	O43451	p.Ile1094Thr	rs1358963015	missense variant	-	NC_000007.14:g.142054875T>C	TOPMed,gnomAD
MGAM	O43451	p.Ile1096Ser	rs1431849178	missense variant	-	NC_000007.14:g.142054881T>G	gnomAD
MGAM	O43451	p.Arg1097Cys	rs749121609	missense variant	-	NC_000007.14:g.142054883C>T	ExAC,gnomAD
MGAM	O43451	p.Arg1097His	rs768127980	missense variant	-	NC_000007.14:g.142054884G>A	ExAC,gnomAD
MGAM	O43451	p.Arg1098Gln	rs761301600	missense variant	-	NC_000007.14:g.142054887G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1098Trp	rs199990294	missense variant	-	NC_000007.14:g.142054886C>T	1000Genomes,ESP,ExAC,TOPMed
MGAM	O43451	p.Lys1099Asn	rs199810911	missense variant	-	NC_000007.14:g.142054891G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1099Arg	rs771622663	missense variant	-	NC_000007.14:g.142054890A>G	ExAC
MGAM	O43451	p.Thr1101Ala	rs201221721	missense variant	-	NC_000007.14:g.142054895A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1101Ser	rs201221721	missense variant	-	NC_000007.14:g.142054895A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1102Asp	rs754080524	missense variant	-	NC_000007.14:g.142054899G>A	ExAC,gnomAD
MGAM	O43451	p.Thr1103Ile	rs760008474	missense variant	-	NC_000007.14:g.142054902C>T	ExAC,gnomAD
MGAM	O43451	p.Ile1104Val	rs765361066	missense variant	-	NC_000007.14:g.142054904A>G	ExAC,gnomAD
MGAM	O43451	p.Trp1106Ser	rs1310924245	missense variant	-	NC_000007.14:g.142055560G>C	gnomAD
MGAM	O43451	p.Asp1107Glu	rs747964254	missense variant	-	NC_000007.14:g.142055564C>G	ExAC,gnomAD
MGAM	O43451	p.Ser1108Cys	rs757974729	missense variant	-	NC_000007.14:g.142055566C>G	ExAC,gnomAD
MGAM	O43451	p.Phe1113Val	rs1301234862	missense variant	-	NC_000007.14:g.142055580T>G	gnomAD
MGAM	O43451	p.Phe1113Ser	rs746521064	missense variant	-	NC_000007.14:g.142055581T>C	ExAC,gnomAD
MGAM	O43451	p.Phe1113Leu	rs371426689	missense variant	-	NC_000007.14:g.142055582T>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1114Ile	rs776984571	missense variant	-	NC_000007.14:g.142055584C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe1115Leu	rs1351716425	missense variant	-	NC_000007.14:g.142055588C>A	TOPMed,gnomAD
MGAM	O43451	p.Ser1116Thr	rs3024261	missense variant	-	NC_000007.14:g.142055590G>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1116Gly	rs746338647	missense variant	-	NC_000007.14:g.142055589A>G	ExAC,gnomAD
MGAM	O43451	p.Ser1116Ile	rs3024261	missense variant	-	NC_000007.14:g.142055590G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1116Asn	rs3024261	missense variant	-	NC_000007.14:g.142055590G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1118Thr	rs555175389	missense variant	-	NC_000007.14:g.142055596T>C	1000Genomes,TOPMed,gnomAD
MGAM	O43451	p.Met1118Val	rs763424236	missense variant	-	NC_000007.14:g.142055595A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe1119Val	rs1370750446	missense variant	-	NC_000007.14:g.142055598T>G	gnomAD
MGAM	O43451	p.Arg1121His	rs370241545	missense variant	-	NC_000007.14:g.142055605G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1121Cys	rs764397440	missense variant	-	NC_000007.14:g.142055604C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1121Leu	rs370241545	missense variant	-	NC_000007.14:g.142055605G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1124Ala	rs750489666	missense variant	-	NC_000007.14:g.142055613A>G	ExAC,gnomAD
MGAM	O43451	p.Arg1125Ser	rs374214973	missense variant	-	NC_000007.14:g.142055616C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1125His	rs758260512	missense variant	-	NC_000007.14:g.142055617G>A	ExAC,gnomAD
MGAM	O43451	p.Arg1125Gly	rs374214973	missense variant	-	NC_000007.14:g.142055616C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1125Cys	rs374214973	missense variant	-	NC_000007.14:g.142055616C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Lys1129Glu	rs371387433	missense variant	-	NC_000007.14:g.142055628A>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Leu1131Arg	rs1231689388	missense variant	-	NC_000007.14:g.142055635T>G	TOPMed
MGAM	O43451	p.Tyr1132Cys	rs1283465913	missense variant	-	NC_000007.14:g.142055638A>G	TOPMed,gnomAD
MGAM	O43451	p.Gly1133Ser	rs756884470	missense variant	-	NC_000007.14:g.142055640G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1133Val	rs994686231	missense variant	-	NC_000007.14:g.142055641G>T	TOPMed,gnomAD
MGAM	O43451	p.Gly1135Arg	rs1299819756	missense variant	-	NC_000007.14:g.142055646G>A	TOPMed
MGAM	O43451	p.Glu1136Lys	rs866353991	missense variant	-	NC_000007.14:g.142055649G>A	-
MGAM	O43451	p.Thr1137Ser	rs368334063	missense variant	-	NC_000007.14:g.142055653C>G	ESP
MGAM	O43451	p.Glu1138Asp	rs745375696	missense variant	-	NC_000007.14:g.142055657G>T	ExAC,gnomAD
MGAM	O43451	p.Arg1140Thr	rs185758556	missense variant	-	NC_000007.14:g.142055662G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1140Lys	rs185758556	missense variant	-	NC_000007.14:g.142055662G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1143Ser	rs1199615922	missense variant	-	NC_000007.14:g.142055672G>C	TOPMed
MGAM	O43451	p.Asp1145Gly	rs769181346	missense variant	-	NC_000007.14:g.142055677A>G	ExAC,gnomAD
MGAM	O43451	p.Trp1148Leu	rs1261220607	missense variant	-	NC_000007.14:g.142055686G>T	TOPMed
MGAM	O43451	p.Trp1151Ter	rs1278329906	stop gained	-	NC_000007.14:g.142055695G>A	TOPMed
MGAM	O43451	p.Gly1152Ala	rs772211918	missense variant	-	NC_000007.14:g.142055698G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1153Ile	rs575188237	missense variant	-	NC_000007.14:g.142055702G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1156Leu	rs190285241	missense variant	-	NC_000007.14:g.142055710G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1156Ter	rs779349942	stop gained	-	NC_000007.14:g.142055709C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1156Gln	rs190285241	missense variant	-	NC_000007.14:g.142055710G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1157His	rs763830175	missense variant	-	NC_000007.14:g.142055712G>C	ExAC,gnomAD
MGAM	O43451	p.Asp1157Glu	rs1401978899	missense variant	-	NC_000007.14:g.142055714C>A	gnomAD
MGAM	O43451	p.Gln1158Ter	rs751343957	stop gained	-	NC_000007.14:g.142055715C>T	ExAC,gnomAD
MGAM	O43451	p.Gln1158Lys	rs751343957	missense variant	-	NC_000007.14:g.142055715C>A	ExAC,gnomAD
MGAM	O43451	p.Pro1159Thr	rs964230745	missense variant	-	NC_000007.14:g.142055718C>A	TOPMed
MGAM	O43451	p.Pro1159Ser	rs964230745	missense variant	-	NC_000007.14:g.142055718C>T	TOPMed
MGAM	O43451	p.Pro1160Ser	rs756869162	missense variant	-	NC_000007.14:g.142055721C>T	ExAC,gnomAD
MGAM	O43451	p.Gly1161Glu	rs1257913428	missense variant	-	NC_000007.14:g.142055725G>A	gnomAD
MGAM	O43451	p.Gly1161Val	rs1257913428	missense variant	-	NC_000007.14:g.142055725G>T	gnomAD
MGAM	O43451	p.Lys1163Glu	rs558774330	missense variant	-	NC_000007.14:g.142056003A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Lys1163Arg	rs200851430	missense variant	-	NC_000007.14:g.142056004A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1165Tyr	rs747153106	missense variant	-	NC_000007.14:g.142056009A>T	ExAC,gnomAD
MGAM	O43451	p.Ser1166Phe	rs866572586	missense variant	-	NC_000007.14:g.142056013C>T	-
MGAM	O43451	p.Tyr1167His	rs537830668	missense variant	-	NC_000007.14:g.142056015T>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1167Cys	rs745962488	missense variant	-	NC_000007.14:g.142056016A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1167Asn	rs537830668	missense variant	-	NC_000007.14:g.142056015T>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1168Val	rs1440433997	missense variant	-	NC_000007.14:g.142056019G>T	gnomAD
MGAM	O43451	p.Val1169Ile	rs1310192819	missense variant	-	NC_000007.14:g.142056021G>A	TOPMed,gnomAD
MGAM	O43451	p.His1170Tyr	rs768568411	missense variant	-	NC_000007.14:g.142056024C>T	ExAC,gnomAD
MGAM	O43451	p.His1170Pro	rs774221928	missense variant	-	NC_000007.14:g.142056025A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1171Thr	rs1386283834	missense variant	-	NC_000007.14:g.142056027C>A	TOPMed
MGAM	O43451	p.Pro1171Leu	rs1309197083	missense variant	-	NC_000007.14:g.142056028C>T	gnomAD
MGAM	O43451	p.Tyr1173Cys	rs1221707062	missense variant	-	NC_000007.14:g.142056034A>G	gnomAD
MGAM	O43451	p.Gly1175Arg	rs1487334316	missense variant	-	NC_000007.14:g.142056039G>A	TOPMed,gnomAD
MGAM	O43451	p.Gly1175Ala	rs761637327	missense variant	-	NC_000007.14:g.142056040G>C	ExAC,gnomAD
MGAM	O43451	p.Gly1175Glu	rs761637327	missense variant	-	NC_000007.14:g.142056040G>A	ExAC,gnomAD
MGAM	O43451	p.Leu1176Met	rs773079770	missense variant	-	NC_000007.14:g.142056042C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1178Lys	rs752271004	missense variant	-	NC_000007.14:g.142056048G>A	gnomAD
MGAM	O43451	p.Glu1178Asp	rs766130699	missense variant	-	NC_000007.14:g.142056050G>C	ExAC,gnomAD
MGAM	O43451	p.Asp1179Glu	rs200989242	missense variant	-	NC_000007.14:g.142056053C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1180Cys	rs201783917	missense variant	-	NC_000007.14:g.142056054G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1180Ser	rs201783917	missense variant	-	NC_000007.14:g.142056054G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1181Arg	rs753196720	missense variant	-	NC_000007.14:g.142056059T>A	ExAC,gnomAD
MGAM	O43451	p.Ser1181Arg	rs753196720	missense variant	-	NC_000007.14:g.142056059T>G	ExAC,gnomAD
MGAM	O43451	p.Leu1188Pro	rs1223365850	missense variant	-	NC_000007.14:g.142056079T>C	TOPMed
MGAM	O43451	p.Ser1190Asn	rs1380612816	missense variant	-	NC_000007.14:g.142056085G>A	gnomAD
MGAM	O43451	p.Thr1196Met	rs756381544	missense variant	-	NC_000007.14:g.142056836C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1201Ser	rs200314253	missense variant	-	NC_000007.14:g.142056850C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1201Leu	rs1300527797	missense variant	-	NC_000007.14:g.142056851C>T	gnomAD
MGAM	O43451	p.Leu1203Val	rs1341843312	missense variant	-	NC_000007.14:g.142056856T>G	gnomAD
MGAM	O43451	p.Tyr1205Cys	rs1269255447	missense variant	-	NC_000007.14:g.142056863A>G	gnomAD
MGAM	O43451	p.Tyr1205Asn	rs777913178	missense variant	-	NC_000007.14:g.142056862T>A	ExAC,gnomAD
MGAM	O43451	p.Arg1206Leu	rs780595542	missense variant	-	NC_000007.14:g.142056866G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1206His	rs780595542	missense variant	-	NC_000007.14:g.142056866G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1206Cys	rs115080419	missense variant	-	NC_000007.14:g.142056865C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1207Asn	rs375460909	missense variant	-	NC_000007.14:g.142056869C>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Thr1208Ala	rs1217261323	missense variant	-	NC_000007.14:g.142056871A>G	gnomAD
MGAM	O43451	p.Val1211Leu	rs774806012	missense variant	-	NC_000007.14:g.142056880G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1212Pro	rs1192499432	missense variant	-	NC_000007.14:g.142056884T>C	gnomAD
MGAM	O43451	p.Phe1214Leu	rs866798528	missense variant	-	NC_000007.14:g.142056891T>G	TOPMed,gnomAD
MGAM	O43451	p.Val1216Met	rs764504567	missense variant	-	NC_000007.14:g.142056895G>A	ExAC,gnomAD
MGAM	O43451	p.Leu1218Phe	rs752102018	missense variant	-	NC_000007.14:g.142056903G>C	ExAC,TOPMed
MGAM	O43451	p.Gly1219Glu	rs202179894	missense variant	-	NC_000007.14:g.142056905G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1220Arg	rs200326465	missense variant	-	NC_000007.14:g.142056908C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1220Leu	rs200326465	missense variant	-	NC_000007.14:g.142056908C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1222Thr	rs768217462	missense variant	-	NC_000007.14:g.142056913C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1223Lys	rs755147832	missense variant	-	NC_000007.14:g.142056916G>A	ExAC,gnomAD
MGAM	O43451	p.Leu1224Arg	rs1248114304	missense variant	-	NC_000007.14:g.142056920T>G	TOPMed
MGAM	O43451	p.Val1225Leu	rs777818988	missense variant	-	NC_000007.14:g.142056922G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1226Ile	rs556277836	missense variant	-	NC_000007.14:g.142056926C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1228Arg	rs374194991	missense variant	-	NC_000007.14:g.142056932A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1229His	rs1057407765	missense variant	-	NC_000007.14:g.142056934T>C	TOPMed,gnomAD
MGAM	O43451	p.Gly1234Ala	rs1465806339	missense variant	-	NC_000007.14:g.142058210G>C	TOPMed,gnomAD
MGAM	O43451	p.Arg1235Trp	rs372381068	missense variant	-	NC_000007.14:g.142058212C>T	ESP,TOPMed,gnomAD
MGAM	O43451	p.Arg1235Gln	rs772551734	missense variant	-	NC_000007.14:g.142058213G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1237Met	rs773834182	missense variant	-	NC_000007.14:g.142058218G>A	ExAC,gnomAD
MGAM	O43451	p.Met1238Ile	rs1426043027	missense variant	-	NC_000007.14:g.142058223G>C	gnomAD
MGAM	O43451	p.Met1238Thr	rs760911985	missense variant	-	NC_000007.14:g.142058222T>C	ExAC,gnomAD
MGAM	O43451	p.Pro1240Leu	rs776894832	missense variant	-	NC_000007.14:g.142058228C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1240Ser	rs766812635	missense variant	-	NC_000007.14:g.142058227C>T	ExAC,gnomAD
MGAM	O43451	p.Tyr1241Asp	rs1220708491	missense variant	-	NC_000007.14:g.142058230T>G	gnomAD
MGAM	O43451	p.Tyr1241Ter	rs759740339	stop gained	-	NC_000007.14:g.142058232C>G	ExAC,gnomAD
MGAM	O43451	p.Gly1245Arg	rs765574900	missense variant	-	NC_000007.14:g.142058242G>C	ExAC,gnomAD
MGAM	O43451	p.Phe1246Ser	rs777631001	missense variant	-	NC_000007.14:g.142058246T>C	gnomAD
MGAM	O43451	p.Cys1249Gly	rs767531660	missense variant	-	NC_000007.14:g.142058254T>G	ExAC,gnomAD
MGAM	O43451	p.Arg1250Gly	rs377213841	missense variant	-	NC_000007.14:g.142058257C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1250His	rs756029993	missense variant	-	NC_000007.14:g.142058258G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1250Cys	rs377213841	missense variant	-	NC_000007.14:g.142058257C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1251Ter	rs1444128045	stop gained	-	NC_000007.14:g.142058262T>G	TOPMed
MGAM	O43451	p.Tyr1251Cys	rs779857945	missense variant	-	NC_000007.14:g.142058261A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1252Asp	rs1160691795	missense variant	-	NC_000007.14:g.142058264G>A	gnomAD
MGAM	O43451	p.Tyr1253Ter	rs749039626	stop gained	-	NC_000007.14:g.142058268C>A	ExAC,gnomAD
MGAM	O43451	p.Gln1254Arg	rs778593501	missense variant	-	NC_000007.14:g.142058270A>G	ExAC,gnomAD
MGAM	O43451	p.Gln1254His	rs747649207	missense variant	-	NC_000007.14:g.142058271G>C	ExAC,gnomAD
MGAM	O43451	p.Gln1254Glu	rs754566758	missense variant	-	NC_000007.14:g.142058269C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1255Asp	rs771606438	missense variant	-	NC_000007.14:g.142058272A>G	ExAC,gnomAD
MGAM	O43451	p.Asn1255Lys	rs2961078	missense variant	-	NC_000007.14:g.142058274T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1256Asn	rs1483665766	missense variant	-	NC_000007.14:g.142058275G>A	TOPMed
MGAM	O43451	p.Ser1257Cys	rs1341213814	missense variant	-	NC_000007.14:g.142058279C>G	gnomAD
MGAM	O43451	p.Glu1258Val	rs747497594	missense variant	-	NC_000007.14:g.142058282A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1260Ser	rs111374090	missense variant	-	NC_000007.14:g.142058287G>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1260Thr	rs111374090	missense variant	-	NC_000007.14:g.142058287G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1261Gly	rs1245848440	missense variant	-	NC_000007.14:g.142058290A>G	TOPMed
MGAM	O43451	p.Tyr1263Phe	rs760039586	missense variant	-	NC_000007.14:g.142058297A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1264Gly	rs770140228	missense variant	-	NC_000007.14:g.142058300A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1265Val	rs1396262685	missense variant	-	NC_000007.14:g.142058303A>T	TOPMed
MGAM	O43451	p.Met1266Leu	rs559779417	missense variant	-	NC_000007.14:g.142058305A>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1266Val	rs559779417	missense variant	-	NC_000007.14:g.142058305A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1268Asp	rs533240347	missense variant	-	NC_000007.14:g.142058312C>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Ala1269Pro	rs372400073	missense variant	-	NC_000007.14:g.142058314G>C	ESP,ExAC,TOPMed
MGAM	O43451	p.Ala1269Gly	rs760592782	missense variant	-	NC_000007.14:g.142058315C>G	ExAC,gnomAD
MGAM	O43451	p.Gln1270His	rs766241317	missense variant	-	NC_000007.14:g.142058319G>T	ExAC,gnomAD
MGAM	O43451	p.Asp1274Glu	rs2960758	missense variant	-	NC_000007.14:g.142059474T>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1275Met	rs1255039773	missense variant	-	NC_000007.14:g.142059475G>A	TOPMed
MGAM	O43451	p.Gln1276Arg	rs770457039	missense variant	-	NC_000007.14:g.142059479A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1277Cys	rs191199615	missense variant	-	NC_000007.14:g.142059482A>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1278Thr	rs1315842027	missense variant	-	NC_000007.14:g.142059484T>A	gnomAD
MGAM	O43451	p.Ser1278Leu	rs146623163	missense variant	-	NC_000007.14:g.142059485C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1279Gly	rs1377245295	missense variant	-	NC_000007.14:g.142059488A>G	TOPMed,gnomAD
MGAM	O43451	p.Asp1279Asn	rs1274712796	missense variant	-	NC_000007.14:g.142059487G>A	gnomAD
MGAM	O43451	p.Ile1280Met	rs774503213	missense variant	-	NC_000007.14:g.142059492C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1281Asn	rs748225017	missense variant	-	NC_000007.14:g.142059493G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1282Cys	rs542752170	missense variant	-	NC_000007.14:g.142059497A>G	TOPMed,gnomAD
MGAM	O43451	p.Met1283Val	rs759340776	missense variant	-	NC_000007.14:g.142059499A>G	TOPMed,gnomAD
MGAM	O43451	p.Glu1284Gln	rs772089255	missense variant	-	NC_000007.14:g.142059502G>C	ExAC
MGAM	O43451	p.Arg1285Trp	rs773299141	missense variant	-	NC_000007.14:g.142059505C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1285Gln	rs759425386	missense variant	-	NC_000007.14:g.142059506G>A	ExAC,gnomAD
MGAM	O43451	p.Gln1286His	rs1387787225	missense variant	-	NC_000007.14:g.142059510G>T	TOPMed
MGAM	O43451	p.Gln1286Lys	rs765176332	missense variant	-	NC_000007.14:g.142059508C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1287Val	rs775254501	missense variant	-	NC_000007.14:g.142059511C>G	ExAC,gnomAD
MGAM	O43451	p.Leu1287Arg	rs762726986	missense variant	-	NC_000007.14:g.142059512T>G	ExAC,gnomAD
MGAM	O43451	p.Asp1288Asn	rs1171584655	missense variant	-	NC_000007.14:g.142059514G>A	gnomAD
MGAM	O43451	p.Asp1288Glu	rs1440415006	missense variant	-	NC_000007.14:g.142059516C>A	gnomAD
MGAM	O43451	p.Asp1288Gly	rs763774415	missense variant	-	NC_000007.14:g.142059515A>G	ExAC,gnomAD
MGAM	O43451	p.Phe1289Ile	rs1298123788	missense variant	-	NC_000007.14:g.142059517T>A	gnomAD
MGAM	O43451	p.Thr1290Ala	rs770239289	missense variant	-	NC_000007.14:g.142059520A>G	TOPMed,gnomAD
MGAM	O43451	p.Thr1290Ile	rs1380498230	missense variant	-	NC_000007.14:g.142059521C>T	gnomAD
MGAM	O43451	p.Leu1291Ile	rs751220955	missense variant	-	NC_000007.14:g.142059523C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1293Ser	rs1294587147	missense variant	-	NC_000007.14:g.142059529C>T	gnomAD
MGAM	O43451	p.Lys1294Arg	rs575918064	missense variant	-	NC_000007.14:g.142059533A>G	1000Genomes
MGAM	O43451	p.Phe1295Ser	rs756956993	missense variant	-	NC_000007.14:g.142059536T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1296Thr	rs767098256	missense variant	-	NC_000007.14:g.142059538G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1296Ser	rs767098256	missense variant	-	NC_000007.14:g.142059538G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1296Val	rs536696775	missense variant	-	NC_000007.14:g.142059539C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1296Pro	rs767098256	missense variant	-	NC_000007.14:g.142059538G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1297Arg	rs755336969	missense variant	-	NC_000007.14:g.142059541G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1299Leu	rs748265150	missense variant	-	NC_000007.14:g.142059548C>T	ExAC,gnomAD
MGAM	O43451	p.Ala1300Pro	rs1340116053	missense variant	-	NC_000007.14:g.142059550G>C	TOPMed
MGAM	O43451	p.Ile1302Val	rs1255513712	missense variant	-	NC_000007.14:g.142059556A>G	gnomAD
MGAM	O43451	p.Asn1303Ser	rs199746207	missense variant	-	NC_000007.14:g.142059560A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1304Pro	rs769721754	missense variant	-	NC_000007.14:g.142059563G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1304Cys	rs747153890	missense variant	-	NC_000007.14:g.142059562C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1304His	rs769721754	missense variant	-	NC_000007.14:g.142059563G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1305Ile	rs1310367414	missense variant	-	NC_000007.14:g.142059567G>A	TOPMed
MGAM	O43451	p.Ala1307Asp	rs1170148392	missense variant	-	NC_000007.14:g.142059572C>A	gnomAD
MGAM	O43451	p.Ala1307Ser	rs762791471	missense variant	-	NC_000007.14:g.142059571G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1307Thr	rs762791471	missense variant	-	NC_000007.14:g.142059571G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1311Trp	rs573145045	missense variant	-	NC_000007.14:g.142059583C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1311Gln	rs774233528	missense variant	-	NC_000007.14:g.142059584G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1315Met	rs1418317437	missense variant	-	NC_000007.14:g.142059597T>G	TOPMed
MGAM	O43451	p.Asp1317Gly	rs1247460301	missense variant	-	NC_000007.14:g.142059857A>G	gnomAD
MGAM	O43451	p.Pro1318Leu	rs1192108444	missense variant	-	NC_000007.14:g.142059860C>T	gnomAD
MGAM	O43451	p.Ala1319Thr	rs1395079930	missense variant	-	NC_000007.14:g.142059862G>A	gnomAD
MGAM	O43451	p.Ser1321Pro	rs761723333	missense variant	-	NC_000007.14:g.142059868T>C	ExAC,gnomAD
MGAM	O43451	p.Glu1324Gly	rs1317231771	missense variant	-	NC_000007.14:g.142059878A>G	gnomAD
MGAM	O43451	p.Gln1326Arg	rs374679841	missense variant	-	NC_000007.14:g.142059884A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1327Ala	rs1323643098	missense variant	-	NC_000007.14:g.142059886C>G	TOPMed,gnomAD
MGAM	O43451	p.Pro1327Thr	rs1323643098	missense variant	-	NC_000007.14:g.142059886C>A	TOPMed,gnomAD
MGAM	O43451	p.Pro1329Leu	rs1281147281	missense variant	-	NC_000007.14:g.142059893C>T	gnomAD
MGAM	O43451	p.Pro1329Thr	rs1289064654	missense variant	-	NC_000007.14:g.142059892C>A	TOPMed
MGAM	O43451	p.Ala1330Thr	rs765785097	missense variant	-	NC_000007.14:g.142059895G>A	ExAC,gnomAD
MGAM	O43451	p.Ala1330Val	rs1223272580	missense variant	-	NC_000007.14:g.142059896C>T	gnomAD
MGAM	O43451	p.Arg1333Gln	rs372720908	missense variant	-	NC_000007.14:g.142059905G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1333Gly	rs184974986	missense variant	-	NC_000007.14:g.142059904C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1333Trp	rs184974986	missense variant	-	NC_000007.14:g.142059904C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1334Ser	rs1212270440	missense variant	-	NC_000007.14:g.142059907G>A	gnomAD
MGAM	O43451	p.Gly1334Val	rs1252776260	missense variant	-	NC_000007.14:g.142059908G>T	gnomAD
MGAM	O43451	p.Val1335Ala	rs757501872	missense variant	-	NC_000007.14:g.142059911T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1335Met	rs556773642	missense variant	-	NC_000007.14:g.142059910G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Asp1338Gly	rs1395774348	missense variant	-	NC_000007.14:g.142059920A>G	TOPMed
MGAM	O43451	p.Val1339Ile	rs745975997	missense variant	-	NC_000007.14:g.142059922G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1341Met	rs371809571	missense variant	-	NC_000007.14:g.142059930C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1341Val	rs1418212410	missense variant	-	NC_000007.14:g.142059928A>G	gnomAD
MGAM	O43451	p.Pro1344Thr	rs376193103	missense variant	-	NC_000007.14:g.142059937C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1344Leu	rs772041393	missense variant	-	NC_000007.14:g.142059938C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1346Glu	rs773160209	missense variant	-	NC_000007.14:g.142059945T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1346Ala	rs937702346	missense variant	-	NC_000007.14:g.142059944A>C	TOPMed,gnomAD
MGAM	O43451	p.Gly1347Ter	rs568844863	stop gained	-	NC_000007.14:g.142059946G>T	gnomAD
MGAM	O43451	p.Gly1347Ala	rs1441650508	missense variant	-	NC_000007.14:g.142059947G>C	TOPMed,gnomAD
MGAM	O43451	p.Gly1347Arg	rs568844863	missense variant	-	NC_000007.14:g.142059946G>A	gnomAD
MGAM	O43451	p.Gly1347Glu	rs1441650508	missense variant	-	NC_000007.14:g.142059947G>A	TOPMed,gnomAD
MGAM	O43451	p.Ile1349Met	rs1351301352	missense variant	-	NC_000007.14:g.142059954T>G	gnomAD
MGAM	O43451	p.Ile1349Val	rs909549408	missense variant	-	NC_000007.14:g.142059952A>G	TOPMed,gnomAD
MGAM	O43451	p.Val1350Phe	rs1357380059	missense variant	-	NC_000007.14:g.142059955G>T	TOPMed,gnomAD
MGAM	O43451	p.Trp1351Ter	rs1272733541	stop gained	-	NC_000007.14:g.142059960G>A	gnomAD
MGAM	O43451	p.Trp1351Ter	rs1231688882	stop gained	-	NC_000007.14:g.142059959G>A	TOPMed,gnomAD
MGAM	O43451	p.Gly1352Arg	rs1302981903	missense variant	-	NC_000007.14:g.142059961G>C	gnomAD
MGAM	O43451	p.Gly1352Glu	rs1340523455	missense variant	-	NC_000007.14:g.142059962G>A	gnomAD
MGAM	O43451	p.Lys1353Asn	rs368053105	missense variant	-	NC_000007.14:g.142059966G>T	ExAC,gnomAD
MGAM	O43451	p.Val1354Ile	rs1254914799	missense variant	-	NC_000007.14:g.142060311G>A	gnomAD
MGAM	O43451	p.Trp1355Arg	rs374999893	missense variant	-	NC_000007.14:g.142060314T>C	ESP,ExAC,gnomAD
MGAM	O43451	p.Trp1355Cys	rs757127341	missense variant	-	NC_000007.14:g.142060316G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1355Cys	rs757127341	missense variant	-	NC_000007.14:g.142060316G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1356Leu	rs1464309690	missense variant	-	NC_000007.14:g.142060318C>T	gnomAD
MGAM	O43451	p.Pro1356Thr	rs780874631	missense variant	-	NC_000007.14:g.142060317C>A	ExAC,gnomAD
MGAM	O43451	p.Phe1358Ile	rs1270904362	missense variant	-	NC_000007.14:g.142060323T>A	TOPMed
MGAM	O43451	p.Pro1359Ser	rs866544940	missense variant	-	NC_000007.14:g.142060326C>T	gnomAD
MGAM	O43451	p.Asp1360Ala	rs1197620977	missense variant	-	NC_000007.14:g.142060330A>C	TOPMed
MGAM	O43451	p.Val1361Ile	rs745498224	missense variant	-	NC_000007.14:g.142060332G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1363Met	rs1265060042	missense variant	-	NC_000007.14:g.142060338G>A	TOPMed
MGAM	O43451	p.Asn1364Ser	rs1452489820	missense variant	-	NC_000007.14:g.142060342A>G	TOPMed,gnomAD
MGAM	O43451	p.Ser1366Pro	rs1364466222	missense variant	-	NC_000007.14:g.142060347T>C	gnomAD
MGAM	O43451	p.Leu1367Val	rs769336095	missense variant	-	NC_000007.14:g.142060350C>G	ExAC,gnomAD
MGAM	O43451	p.Asp1368Gly	rs774923569	missense variant	-	NC_000007.14:g.142060354A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1369Ter	rs748855446	stop gained	-	NC_000007.14:g.142060358G>A	ExAC,gnomAD
MGAM	O43451	p.Asp1370Asn	rs1442184812	missense variant	-	NC_000007.14:g.142060359G>A	gnomAD
MGAM	O43451	p.Ser1371Gly	rs774876509	missense variant	-	NC_000007.14:g.142060362A>G	ExAC,gnomAD
MGAM	O43451	p.Ser1371Arg	rs193144181	missense variant	-	NC_000007.14:g.142060364C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1371Arg	rs774876509	missense variant	-	NC_000007.14:g.142060362A>C	ExAC,gnomAD
MGAM	O43451	p.Ser1371Asn	rs1440824754	missense variant	-	NC_000007.14:g.142060363G>A	gnomAD
MGAM	O43451	p.Gln1372Arg	rs202114402	missense variant	-	NC_000007.14:g.142060366A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Gln1372Leu	rs202114402	missense variant	-	NC_000007.14:g.142060366A>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Glu1374Gln	rs760880173	missense variant	-	NC_000007.14:g.142060371G>C	ExAC
MGAM	O43451	p.Glu1374Asp	rs1258623716	missense variant	-	NC_000007.14:g.142060373G>C	gnomAD
MGAM	O43451	p.Leu1375Pro	rs1475552510	missense variant	-	NC_000007.14:g.142062569T>C	TOPMed,gnomAD
MGAM	O43451	p.Leu1375Val	rs752830042	missense variant	-	NC_000007.14:g.142062568C>G	ExAC,gnomAD
MGAM	O43451	p.Tyr1376Cys	rs1190354995	missense variant	-	NC_000007.14:g.142062572A>G	TOPMed,gnomAD
MGAM	O43451	p.Arg1377Gln	rs750232138	missense variant	-	NC_000007.14:g.142062575G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1377Gly	rs761756111	missense variant	-	NC_000007.14:g.142062574C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1377Ter	rs761756111	stop gained	-	NC_000007.14:g.142062574C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1379Cys	rs1171554490	missense variant	-	NC_000007.14:g.142062581A>G	gnomAD
MGAM	O43451	p.Val1380Met	rs755905439	missense variant	-	NC_000007.14:g.142062583G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1381Asp	rs779656630	missense variant	-	NC_000007.14:g.142062587C>A	ExAC,gnomAD
MGAM	O43451	p.Pro1383Thr	rs1323169920	missense variant	-	NC_000007.14:g.142062592C>A	TOPMed
MGAM	O43451	p.Phe1385Ile	rs1307893524	missense variant	-	NC_000007.14:g.142062598T>A	gnomAD
MGAM	O43451	p.Phe1386Leu	rs1369437143	missense variant	-	NC_000007.14:g.142062603C>G	gnomAD
MGAM	O43451	p.Arg1387His	rs368560642	missense variant	-	NC_000007.14:g.142062605G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1387Cys	rs753437264	missense variant	-	NC_000007.14:g.142062604C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1389Leu	rs1333106965	missense variant	-	NC_000007.14:g.142062611C>T	TOPMed
MGAM	O43451	p.Ser1389Pro	rs778323561	missense variant	-	NC_000007.14:g.142062610T>C	ExAC,gnomAD
MGAM	O43451	p.Thr1390Asn	rs747625145	missense variant	-	NC_000007.14:g.142062614C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1390Ile	rs747625145	missense variant	-	NC_000007.14:g.142062614C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1391Ser	rs920313904	missense variant	-	NC_000007.14:g.142062616G>T	TOPMed
MGAM	O43451	p.Trp1393Cys	rs772618637	missense variant	-	NC_000007.14:g.142062624G>C	ExAC,gnomAD
MGAM	O43451	p.Trp1394Ter	rs778209488	stop gained	-	NC_000007.14:g.142062626G>A	ExAC,gnomAD
MGAM	O43451	p.Trp1394Cys	rs747366964	missense variant	-	NC_000007.14:g.142062627G>C	ExAC,gnomAD
MGAM	O43451	p.Arg1396Gly	rs771375074	missense variant	-	NC_000007.14:g.142062631A>G	ExAC,gnomAD
MGAM	O43451	p.Glu1397Lys	rs777169037	missense variant	-	NC_000007.14:g.142062634G>A	ExAC,gnomAD
MGAM	O43451	p.Ile1398Val	rs759766160	missense variant	-	NC_000007.14:g.142062637A>G	ExAC,gnomAD
MGAM	O43451	p.Glu1399Lys	rs770154533	missense variant	-	NC_000007.14:g.142062640G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1403Lys	rs775629746	missense variant	-	NC_000007.14:g.142062654C>A	ExAC,gnomAD
MGAM	O43451	p.Pro1405Ser	rs1168535978	missense variant	-	NC_000007.14:g.142062658C>T	TOPMed,gnomAD
MGAM	O43451	p.Gln1406Pro	rs763013854	missense variant	-	NC_000007.14:g.142062662A>C	ExAC,gnomAD
MGAM	O43451	p.Ser1411Thr	rs1164378139	missense variant	-	NC_000007.14:g.142062677G>C	TOPMed
MGAM	O43451	p.Ser1411Gly	rs760625240	missense variant	-	NC_000007.14:g.142062676A>G	ExAC,gnomAD
MGAM	O43451	p.Phe1414Leu	rs372526101	missense variant	-	NC_000007.14:g.142062687T>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1415Asn	rs754566813	missense variant	-	NC_000007.14:g.142062688G>A	ExAC,gnomAD
MGAM	O43451	p.Asp1415Val	rs375424596	missense variant	-	NC_000007.14:g.142062689A>T	ESP,ExAC,gnomAD
MGAM	O43451	p.Asp1415Gly	rs375424596	missense variant	-	NC_000007.14:g.142062689A>G	ESP,ExAC,gnomAD
MGAM	O43451	p.Asp1415His	rs754566813	missense variant	-	NC_000007.14:g.142062688G>C	ExAC,gnomAD
MGAM	O43451	p.Gly1416Cys	rs1348494719	missense variant	-	NC_000007.14:g.142062691G>T	gnomAD
MGAM	O43451	p.Met1417Ile	rs777367415	missense variant	-	NC_000007.14:g.142062696G>A	ExAC,gnomAD
MGAM	O43451	p.Met1417Leu	rs1276609630	missense variant	-	NC_000007.14:g.142062694A>T	gnomAD
MGAM	O43451	p.Trp1418Cys	rs368030090	missense variant	-	NC_000007.14:g.142062699G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1420Asn	rs201271635	missense variant	-	NC_000007.14:g.142063499G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1420Gly	rs781782712	missense variant	-	NC_000007.14:g.142063500A>G	ExAC
MGAM	O43451	p.Asn1422Ser	rs746207317	missense variant	-	NC_000007.14:g.142063506A>G	ExAC,gnomAD
MGAM	O43451	p.Glu1423Ala	rs780492645	missense variant	-	NC_000007.14:g.142063509A>C	ExAC
MGAM	O43451	p.Glu1423Asp	rs749428982	missense variant	-	NC_000007.14:g.142063510A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1424Thr	rs185053832	missense variant	-	NC_000007.14:g.142063511C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1425Pro	rs748280923	missense variant	-	NC_000007.14:g.142063514T>C	ExAC,gnomAD
MGAM	O43451	p.Ser1425Leu	rs1394987514	missense variant	-	NC_000007.14:g.142063515C>T	gnomAD
MGAM	O43451	p.Ser1426Thr	rs770850136	missense variant	-	NC_000007.14:g.142063518G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1426Asn	rs770850136	missense variant	-	NC_000007.14:g.142063518G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1428Met	rs759302620	missense variant	-	NC_000007.14:g.142063523G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1429Ser	rs769438206	missense variant	-	NC_000007.14:g.142063527A>G	ExAC,gnomAD
MGAM	O43451	p.Gly1430Glu	rs1348650177	missense variant	-	NC_000007.14:g.142063530G>A	gnomAD
MGAM	O43451	p.Ala1431Val	rs762455641	missense variant	-	NC_000007.14:g.142063533C>T	ExAC,gnomAD
MGAM	O43451	p.Ala1431Thr	rs775361719	missense variant	-	NC_000007.14:g.142063532G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1431Glu	rs762455641	missense variant	-	NC_000007.14:g.142063533C>A	ExAC,gnomAD
MGAM	O43451	p.Gly1435Asp	rs751113499	missense variant	-	NC_000007.14:g.142063545G>A	ExAC,gnomAD
MGAM	O43451	p.Cys1436Phe	rs761452877	missense variant	-	NC_000007.14:g.142063548G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Cys1436Tyr	rs761452877	missense variant	-	NC_000007.14:g.142063548G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1437Gly	rs768118877	missense variant	-	NC_000007.14:g.142063550A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1438Gly	rs750914414	missense variant	-	NC_000007.14:g.142063554A>G	ExAC,gnomAD
MGAM	O43451	p.Ala1439Thr	rs1471303137	missense variant	-	NC_000007.14:g.142063556G>A	TOPMed,gnomAD
MGAM	O43451	p.His1443Tyr	rs755138331	missense variant	-	NC_000007.14:g.142063568C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1444Ala	rs779261743	missense variant	-	NC_000007.14:g.142063571C>G	ExAC,gnomAD
MGAM	O43451	p.Pro1444Ser	rs779261743	missense variant	-	NC_000007.14:g.142063571C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1445Thr	rs3087313	missense variant	-	NC_000007.14:g.142063574C>A	TOPMed,gnomAD
MGAM	O43451	p.Pro1445Ser	rs3087313	missense variant	-	NC_000007.14:g.142063574C>T	TOPMed,gnomAD
MGAM	O43451	p.Tyr1446Cys	rs772187068	missense variant	-	NC_000007.14:g.142063578A>G	ExAC,TOPMed
MGAM	O43451	p.Tyr1446Asn	rs748194894	missense variant	-	NC_000007.14:g.142063577T>A	ExAC,gnomAD
MGAM	O43451	p.Met1447Leu	rs950173354	missense variant	-	NC_000007.14:g.142063580A>T	TOPMed
MGAM	O43451	p.Pro1448Thr	rs1302619560	missense variant	-	NC_000007.14:g.142063583C>A	TOPMed
MGAM	O43451	p.His1449Asn	rs200751815	missense variant	-	NC_000007.14:g.142063586C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1449Arg	rs1379475063	missense variant	-	NC_000007.14:g.142064384A>G	gnomAD
MGAM	O43451	p.His1449Tyr	rs200751815	missense variant	-	NC_000007.14:g.142063586C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1454His	rs1318942215	missense variant	-	NC_000007.14:g.142064398G>C	gnomAD
MGAM	O43451	p.Arg1455Trp	rs768452325	missense variant	-	NC_000007.14:g.142064401A>T	ExAC,gnomAD
MGAM	O43451	p.Arg1455Ser	rs774321991	missense variant	-	NC_000007.14:g.142064403G>T	ExAC,gnomAD
MGAM	O43451	p.Leu1457Met	rs1230394650	missense variant	-	NC_000007.14:g.142064407C>A	TOPMed,gnomAD
MGAM	O43451	p.Ser1458Asn	rs747733522	missense variant	-	NC_000007.14:g.142064411G>A	ExAC,gnomAD
MGAM	O43451	p.Lys1460Met	rs375342862	missense variant	-	NC_000007.14:g.142064417A>T	ESP,TOPMed,gnomAD
MGAM	O43451	p.Lys1460Arg	rs375342862	missense variant	-	NC_000007.14:g.142064417A>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Cys1463Tyr	rs1464238432	missense variant	-	NC_000007.14:g.142064426G>A	gnomAD
MGAM	O43451	p.Ser1466Thr	rs1431556174	missense variant	-	NC_000007.14:g.142064435G>C	TOPMed,gnomAD
MGAM	O43451	p.Gln1468Glu	rs1198248687	missense variant	-	NC_000007.14:g.142064440C>G	TOPMed,gnomAD
MGAM	O43451	p.Leu1470Val	rs760296344	missense variant	-	NC_000007.14:g.142064446C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1470Ile	rs760296344	missense variant	-	NC_000007.14:g.142064446C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1471Ser	rs766765023	missense variant	-	NC_000007.14:g.142064449C>T	ExAC,gnomAD
MGAM	O43451	p.Asp1472Glu	rs751737247	missense variant	-	NC_000007.14:g.142064454C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1472Glu	rs751737247	missense variant	-	NC_000007.14:g.142064454C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1473Ser	rs758607719	missense variant	-	NC_000007.14:g.142064455G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1473Cys	rs758607719	missense variant	-	NC_000007.14:g.142064455G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1474Pro	rs751562541	missense variant	-	NC_000007.14:g.142064458T>C	ExAC,gnomAD
MGAM	O43451	p.Leu1475Val	rs1300002442	missense variant	-	NC_000007.14:g.142064461C>G	gnomAD
MGAM	O43451	p.Leu1475Pro	rs3087318	missense variant	-	NC_000007.14:g.142064462T>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1477Ter	rs1229883769	stop gained	-	NC_000007.14:g.142064467C>T	gnomAD
MGAM	O43451	p.Gln1477Pro	rs1286016213	missense variant	-	NC_000007.14:g.142064468A>C	gnomAD
MGAM	O43451	p.His1478Gln	rs371707186	missense variant	-	NC_000007.14:g.142064472C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1478Gln	rs371707186	missense variant	-	NC_000007.14:g.142064472C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1481Leu	rs778789236	missense variant	-	NC_000007.14:g.142064479G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1481Leu	rs778789236	missense variant	-	NC_000007.14:g.142064479G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1481Met	rs778789236	missense variant	-	NC_000007.14:g.142064479G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1482Tyr	rs373961689	missense variant	-	NC_000007.14:g.142064482C>T	ESP,ExAC,gnomAD
MGAM	O43451	p.Tyr1485Ser	rs367916209	missense variant	-	NC_000007.14:g.142064492A>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1485Cys	rs367916209	missense variant	-	NC_000007.14:g.142064492A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1487Leu	rs201310218	missense variant	-	NC_000007.14:g.142064498G>T	TOPMed,gnomAD
MGAM	O43451	p.Pro1492Leu	rs1342253497	missense variant	-	NC_000007.14:g.142064513C>T	gnomAD
MGAM	O43451	p.Pro1492Ser	rs1457842974	missense variant	-	NC_000007.14:g.142064512C>T	gnomAD
MGAM	O43451	p.Thr1493Arg	rs1299200485	missense variant	-	NC_000007.14:g.142064516C>G	gnomAD
MGAM	O43451	p.Glu1495Lys	rs374771873	missense variant	-	NC_000007.14:g.142064521G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1495Ter	rs374771873	stop gained	-	NC_000007.14:g.142064521G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1496Thr	rs1011182409	missense variant	-	NC_000007.14:g.142065336G>A	TOPMed
MGAM	O43451	p.Val1497Met	rs201533344	missense variant	-	NC_000007.14:g.142065339G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1497Leu	rs201533344	missense variant	-	NC_000007.14:g.142065339G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1498His	rs780742115	missense variant	-	NC_000007.14:g.142065344G>C	ExAC,gnomAD
MGAM	O43451	p.Glu1499Lys	rs745451167	missense variant	-	NC_000007.14:g.142065345G>A	ExAC,gnomAD
MGAM	O43451	p.Thr1501Met	rs376131049	missense variant	-	NC_000007.14:g.142065352C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1503Leu	rs1431952081	missense variant	-	NC_000007.14:g.142065358A>T	TOPMed
MGAM	O43451	p.Arg1504Gln	rs374506553	missense variant	-	NC_000007.14:g.142065361G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1504Ter	rs200390887	stop gained	-	NC_000007.14:g.142065360C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1505Arg	rs774586942	missense variant	-	NC_000007.14:g.142065363G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1505Val	rs1414495073	missense variant	-	NC_000007.14:g.142065364G>T	TOPMed,gnomAD
MGAM	O43451	p.Val1507Ile	rs527929510	missense variant	-	NC_000007.14:g.142065369G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1508Phe	rs767687937	missense variant	-	NC_000007.14:g.142065372A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1509Asn	rs750509389	missense variant	-	NC_000007.14:g.142065376C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1509Ile	rs750509389	missense variant	-	NC_000007.14:g.142065376C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1510His	rs760340491	missense variant	-	NC_000007.14:g.142065379G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1510Cys	rs760873437	missense variant	-	NC_000007.14:g.142065378C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1512Ala	rs199508271	missense variant	-	NC_000007.14:g.142065384A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1512Pro	rs199508271	missense variant	-	NC_000007.14:g.142065384A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1514Leu	rs777555213	missense variant	-	NC_000007.14:g.142065391C>T	ExAC,gnomAD
MGAM	O43451	p.Ser1515Cys	rs1311816325	missense variant	-	NC_000007.14:g.142065394C>G	gnomAD
MGAM	O43451	p.Gly1517Ser	rs1209535324	missense variant	-	NC_000007.14:g.142065399G>A	gnomAD
MGAM	O43451	p.Arg1518His	rs763981731	missense variant	-	NC_000007.14:g.142065403G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1518Cys	rs751370314	missense variant	-	NC_000007.14:g.142065402C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1518Leu	rs763981731	missense variant	-	NC_000007.14:g.142065403G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1519Ter	rs1188514985	stop gained	-	NC_000007.14:g.142065407G>A	gnomAD
MGAM	O43451	p.Ala1520Pro	rs200663999	missense variant	-	NC_000007.14:g.142065408G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1520Val	rs972966549	missense variant	-	NC_000007.14:g.142065409C>T	TOPMed
MGAM	O43451	p.Trp1523Gly	rs745360965	missense variant	-	NC_000007.14:g.142065417T>G	ExAC,gnomAD
MGAM	O43451	p.Leu1524Pro	rs1192414161	missense variant	-	NC_000007.14:g.142065421T>C	gnomAD
MGAM	O43451	p.Gly1525Arg	rs918535669	missense variant	-	NC_000007.14:g.142065423G>C	TOPMed
MGAM	O43451	p.Asp1526Gly	rs1411889666	missense variant	-	NC_000007.14:g.142065427A>G	TOPMed
MGAM	O43451	p.Asp1526Glu	rs1159385818	missense variant	-	NC_000007.14:g.142065428C>A	gnomAD
MGAM	O43451	p.Asn1527Lys	rs779574602	missense variant	-	NC_000007.14:g.142065431C>A	ExAC,gnomAD
MGAM	O43451	p.Asn1527Ser	rs1390590692	missense variant	-	NC_000007.14:g.142065430A>G	gnomAD
MGAM	O43451	p.Thr1528Met	rs370790394	missense variant	-	NC_000007.14:g.142065433C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1528Arg	rs370790394	missense variant	-	NC_000007.14:g.142065433C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1529Asp	rs1456862416	missense variant	-	NC_000007.14:g.142065436C>A	TOPMed
MGAM	O43451	p.Ala1530Pro	rs772302459	missense variant	-	NC_000007.14:g.142065438G>C	ExAC,gnomAD
MGAM	O43451	p.Ala1530Thr	rs772302459	missense variant	-	NC_000007.14:g.142065438G>A	ExAC,gnomAD
MGAM	O43451	p.Trp1531Gly	rs1229276923	missense variant	-	NC_000007.14:g.142065441T>G	TOPMed,gnomAD
MGAM	O43451	p.Gln1533Ter	rs766526968	stop gained	-	NC_000007.14:g.142065447C>T	ExAC,gnomAD
MGAM	O43451	p.Lys1536Asn	rs1248970291	missense variant	-	NC_000007.14:g.142065458G>T	TOPMed
MGAM	O43451	p.Ile1538Val	rs1244283229	missense variant	-	NC_000007.14:g.142065462A>G	TOPMed,gnomAD
MGAM	O43451	p.Ile1539Thr	rs753970177	missense variant	-	NC_000007.14:g.142065466T>C	ExAC,gnomAD
MGAM	O43451	p.Met1541Val	rs766083235	missense variant	-	NC_000007.14:g.142065590A>G	ExAC,gnomAD
MGAM	O43451	p.Glu1543Asp	rs1446233981	missense variant	-	NC_000007.14:g.142065598G>T	gnomAD
MGAM	O43451	p.Gly1548Cys	rs754493483	missense variant	-	NC_000007.14:g.142065611G>T	ExAC,gnomAD
MGAM	O43451	p.Ile1549Leu	rs1276162885	missense variant	-	NC_000007.14:g.142065614A>C	gnomAD
MGAM	O43451	p.Tyr1551Cys	rs141258770	missense variant	-	NC_000007.14:g.142065621A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1551Ter	rs1194895027	stop gained	-	NC_000007.14:g.142065622T>G	gnomAD
MGAM	O43451	p.Tyr1551Phe	rs141258770	missense variant	-	NC_000007.14:g.142065621A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1552Met	rs190699321	missense variant	-	NC_000007.14:g.142065716C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1554Glu	rs369348289	missense variant	-	NC_000007.14:g.142065722C>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Asp1555Gly	rs757649811	missense variant	-	NC_000007.14:g.142065725A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1556Val	rs781714763	missense variant	-	NC_000007.14:g.142065727A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1556Leu	rs781714763	missense variant	-	NC_000007.14:g.142065727A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe1559Leu	rs1381221752	missense variant	-	NC_000007.14:g.142065736T>C	TOPMed,gnomAD
MGAM	O43451	p.Gln1561His	rs746014367	missense variant	-	NC_000007.14:g.142065744A>C	ExAC,gnomAD
MGAM	O43451	p.Asp1562Gly	rs1230633864	missense variant	-	NC_000007.14:g.142065746A>G	gnomAD
MGAM	O43451	p.Ala1563Thr	rs779989261	missense variant	-	NC_000007.14:g.142065748G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1563Val	rs749455158	missense variant	-	NC_000007.14:g.142065749C>T	ExAC,gnomAD
MGAM	O43451	p.Glu1564Ter	rs771962308	stop gained	-	NC_000007.14:g.142065751G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1565Ter	rs113709751	stop gained	-	NC_000007.14:g.142065756C>G	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1567Ile	rs770670125	missense variant	-	NC_000007.14:g.142065762G>A	ExAC,gnomAD
MGAM	O43451	p.Met1567Thr	rs1269600015	missense variant	-	NC_000007.14:g.142065761T>C	gnomAD
MGAM	O43451	p.Arg1570His	rs1412935226	missense variant	-	NC_000007.14:g.142065770G>A	gnomAD
MGAM	O43451	p.Arg1570Cys	rs1199033944	missense variant	-	NC_000007.14:g.142065769C>T	TOPMed,gnomAD
MGAM	O43451	p.Met1572Leu	rs4507684	missense variant	-	NC_000007.14:g.142065775A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1573Lys	rs1157384444	missense variant	-	NC_000007.14:g.142065778C>A	gnomAD
MGAM	O43451	p.Ala1576Thr	rs543900522	missense variant	-	NC_000007.14:g.142065787G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Tyr1578His	rs1180769382	missense variant	-	NC_000007.14:g.142065793T>C	gnomAD
MGAM	O43451	p.His1584Arg	rs763720043	missense variant	-	NC_000007.14:g.142065812A>G	ExAC,gnomAD
MGAM	O43451	p.Asn1585Asp	rs752074238	missense variant	-	NC_000007.14:g.142065814A>G	ExAC,gnomAD
MGAM	O43451	p.Asn1585Ser	rs757846087	missense variant	-	NC_000007.14:g.142065815A>G	ExAC,gnomAD
MGAM	O43451	p.Ile1587Thr	rs756290315	missense variant	-	NC_000007.14:g.142065821T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1587Leu	rs750860358	missense variant	-	NC_000007.14:g.142065820A>C	ExAC,gnomAD
MGAM	O43451	p.Gly1588Arg	rs1245461580	missense variant	-	NC_000007.14:g.142065823G>C	gnomAD
MGAM	O43451	p.Gly1588Glu	rs1258416914	missense variant	-	NC_000007.14:g.142065824G>A	TOPMed
MGAM	O43451	p.Thr1589Asn	rs1267122180	missense variant	-	NC_000007.14:g.142065827C>A	gnomAD
MGAM	O43451	p.Arg1590Ser	rs561932269	missense variant	-	NC_000007.14:g.142065831G>T	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Arg1590Gly	rs780367985	missense variant	-	NC_000007.14:g.142065829A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1592Lys	rs369439250	missense variant	-	NC_000007.14:g.142095568C>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1594Arg	rs779149190	missense variant	-	NC_000007.14:g.142095575C>G	ExAC,gnomAD
MGAM	O43451	p.Val1595Ala	rs1469799332	missense variant	-	NC_000007.14:g.142095578T>C	gnomAD
MGAM	O43451	p.Asp1598Asn	rs1411517690	missense variant	-	NC_000007.14:g.142095586G>A	TOPMed
MGAM	O43451	p.Val1599Ala	rs1473636948	missense variant	-	NC_000007.14:g.142095590T>C	TOPMed,gnomAD
MGAM	O43451	p.Ala1600Val	rs373607967	missense variant	-	NC_000007.14:g.142095593C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1603Ser	rs377447787	missense variant	-	NC_000007.14:g.142095602A>G	ESP,TOPMed,gnomAD
MGAM	O43451	p.Ile1604Val	rs112671793	missense variant	-	NC_000007.14:g.142095604A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1607Asn	rs1486005404	missense variant	-	NC_000007.14:g.142095614C>A	TOPMed
MGAM	O43451	p.Val1608Ile	rs773232506	missense variant	-	NC_000007.14:g.142095616G>A	ExAC,TOPMed
MGAM	O43451	p.Val1608Phe	rs773232506	missense variant	-	NC_000007.14:g.142095616G>T	ExAC,TOPMed
MGAM	O43451	p.Gln1610Ter	rs1228058876	stop gained	-	NC_000007.14:g.142095622C>T	TOPMed
MGAM	O43451	p.Thr1611Ile	rs769796064	missense variant	-	NC_000007.14:g.142095626C>T	ExAC,gnomAD
MGAM	O43451	p.Thr1611Ala	rs745786941	missense variant	-	NC_000007.14:g.142095625A>G	ExAC,gnomAD
MGAM	O43451	p.Arg1612Thr	rs1237869963	missense variant	-	NC_000007.14:g.142095629G>C	TOPMed,gnomAD
MGAM	O43451	p.Thr1614Ser	rs1349329827	missense variant	-	NC_000007.14:g.142095635C>G	TOPMed
MGAM	O43451	p.Pro1617Leu	rs1483325255	missense variant	-	NC_000007.14:g.142095644C>T	gnomAD
MGAM	O43451	p.Tyr1618Cys	rs1248493518	missense variant	-	NC_000007.14:g.142095647A>G	TOPMed,gnomAD
MGAM	O43451	p.His1624Gln	rs147084365	missense variant	-	NC_000007.14:g.142095666T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1624Arg	rs200697908	missense variant	-	NC_000007.14:g.142095665A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Thr1628Arg	rs138571855	missense variant	-	NC_000007.14:g.142095677C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1628Met	rs138571855	missense variant	-	NC_000007.14:g.142095677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1630Val	rs1169212180	missense variant	-	NC_000007.14:g.142095683G>T	TOPMed,gnomAD
MGAM	O43451	p.Val1631Ile	rs374392165	missense variant	-	NC_000007.14:g.142095685G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1631Asp	rs1467374902	missense variant	-	NC_000007.14:g.142095686T>A	TOPMed
MGAM	O43451	p.Thr1632Asn	rs1275671832	missense variant	-	NC_000007.14:g.142095689C>A	TOPMed
MGAM	O43451	p.Val1633Ile	rs1234401612	missense variant	-	NC_000007.14:g.142095691G>A	TOPMed
MGAM	O43451	p.Arg1635Trp	rs868391857	missense variant	-	NC_000007.14:g.142095697C>T	gnomAD
MGAM	O43451	p.Arg1635Gln	rs779185299	missense variant	-	NC_000007.14:g.142095698G>A	ExAC,gnomAD
MGAM	O43451	p.Leu1638Val	rs9655651	missense variant	-	NC_000007.14:g.142095706C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1638Ile	rs9655651	missense variant	-	NC_000007.14:g.142095706C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1638Phe	rs9655651	missense variant	-	NC_000007.14:g.142095706C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1639Leu	rs758605204	missense variant	-	NC_000007.14:g.142095710A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1639Arg	rs758605204	missense variant	-	NC_000007.14:g.142095710A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.His1639Gln	rs374054208	missense variant	-	NC_000007.14:g.142095711T>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1640Ter	rs1338842955	stop gained	-	NC_000007.14:g.142095712G>T	gnomAD
MGAM	O43451	p.Glu1640Asp	rs6975672	missense variant	-	NC_000007.14:g.142096331G>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1643Ter	rs778917542	stop gained	-	NC_000007.14:g.142096339C>A	ExAC,gnomAD
MGAM	O43451	p.Asp1644Glu	rs747859867	missense variant	-	NC_000007.14:g.142096343C>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gln1645Lys	rs771880163	missense variant	-	NC_000007.14:g.142096344C>A	ExAC,gnomAD
MGAM	O43451	p.Gln1645Ter	rs771880163	stop gained	-	NC_000007.14:g.142096344C>T	ExAC,gnomAD
MGAM	O43451	p.Val1646Leu	rs1384234585	missense variant	-	NC_000007.14:g.142096347G>T	gnomAD
MGAM	O43451	p.Thr1647Ser	rs372791404	missense variant	-	NC_000007.14:g.142096350A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1647Ala	rs372791404	missense variant	-	NC_000007.14:g.142096350A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1648Gly	rs202121935	missense variant	-	NC_000007.14:g.142096353T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1650Thr	rs1289251193	missense variant	-	NC_000007.14:g.142096360T>C	gnomAD
MGAM	O43451	p.Ile1650Leu	rs770423213	missense variant	-	NC_000007.14:g.142096359A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1650Val	rs770423213	missense variant	-	NC_000007.14:g.142096359A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1651Gly	rs776176991	missense variant	-	NC_000007.14:g.142096363A>G	ExAC,gnomAD
MGAM	O43451	p.Asp1651Glu	rs759098687	missense variant	-	NC_000007.14:g.142096364C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1657Ser	rs1260492875	missense variant	-	NC_000007.14:g.142096380G>A	gnomAD
MGAM	O43451	p.Ala1659Val	rs753276772	missense variant	-	NC_000007.14:g.142096387C>T	ExAC,gnomAD
MGAM	O43451	p.Phe1660Cys	rs764599561	missense variant	-	NC_000007.14:g.142096390T>G	ExAC,gnomAD
MGAM	O43451	p.Leu1661Pro	rs570362335	missense variant	-	NC_000007.14:g.142096393T>C	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Val1662Ala	rs1435181435	missense variant	-	NC_000007.14:g.142096396T>C	TOPMed
MGAM	O43451	p.Val1662Ile	rs757615356	missense variant	-	NC_000007.14:g.142096395G>A	ExAC,gnomAD
MGAM	O43451	p.Ser1663Asn	rs1418495156	missense variant	-	NC_000007.14:g.142096399G>A	TOPMed
MGAM	O43451	p.Pro1664Ser	rs767688894	missense variant	-	NC_000007.14:g.142096401C>T	ExAC
MGAM	O43451	p.Glu1667Lys	rs1166141039	missense variant	-	NC_000007.14:g.142096410G>A	TOPMed
MGAM	O43451	p.Arg1668Cys	rs750406655	missense variant	-	NC_000007.14:g.142096413C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1668His	rs369519766	missense variant	-	NC_000007.14:g.142096414G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1672Thr	rs769224377	missense variant	-	NC_000007.14:g.142097603A>C	ExAC,gnomAD
MGAM	O43451	p.Ala1675Thr	rs775412511	missense variant	-	NC_000007.14:g.142097611G>A	gnomAD
MGAM	O43451	p.Tyr1676Cys	rs1169792735	missense variant	-	NC_000007.14:g.142097615A>G	gnomAD
MGAM	O43451	p.Pro1678Ala	rs1477819896	missense variant	-	NC_000007.14:g.142097620C>G	gnomAD
MGAM	O43451	p.Arg1679Lys	rs369025335	missense variant	-	NC_000007.14:g.142097624G>A	ESP,TOPMed
MGAM	O43451	p.Arg1681His	rs528091576	missense variant	-	NC_000007.14:g.142097630G>A	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Arg1681Cys	rs773279743	missense variant	-	NC_000007.14:g.142097629C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1682Cys	rs766355982	missense variant	-	NC_000007.14:g.142097634G>T	ExAC,gnomAD
MGAM	O43451	p.Tyr1683Cys	rs753899293	missense variant	-	NC_000007.14:g.142097636A>G	ExAC,gnomAD
MGAM	O43451	p.Tyr1685Cys	rs763977407	missense variant	-	NC_000007.14:g.142097642A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1687Met	rs757023946	missense variant	-	NC_000007.14:g.142097648C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1688Ser	rs373813573	missense variant	-	NC_000007.14:g.142099613G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1688Val	rs769858990	missense variant	-	NC_000007.14:g.142099614G>T	ExAC
MGAM	O43451	p.Gly1688Cys	rs373813573	missense variant	-	NC_000007.14:g.142099613G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1689Met	rs775600653	missense variant	-	NC_000007.14:g.142099616G>A	ExAC,gnomAD
MGAM	O43451	p.Val1689Leu	rs775600653	missense variant	-	NC_000007.14:g.142099616G>T	ExAC,gnomAD
MGAM	O43451	p.Ile1691Val	rs1348301097	missense variant	-	NC_000007.14:g.142099622A>G	gnomAD
MGAM	O43451	p.Asn1692Ser	rs369802718	missense variant	-	NC_000007.14:g.142099626A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1694Ser	rs773052362	missense variant	-	NC_000007.14:g.142099633A>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Glu1696Ter	rs1268266008	stop gained	-	NC_000007.14:g.142099637G>T	gnomAD
MGAM	O43451	p.Trp1697Arg	rs766319661	missense variant	-	NC_000007.14:g.142099640T>C	ExAC,gnomAD
MGAM	O43451	p.Thr1699Ser	rs753541014	missense variant	-	NC_000007.14:g.142099647C>G	ExAC,gnomAD
MGAM	O43451	p.Pro1701Ser	rs367621700	missense variant	-	NC_000007.14:g.142099652C>T	ESP,ExAC,gnomAD
MGAM	O43451	p.Pro1701Thr	rs367621700	missense variant	-	NC_000007.14:g.142099652C>A	ESP,ExAC,gnomAD
MGAM	O43451	p.Ala1702Ser	rs764995959	missense variant	-	NC_000007.14:g.142099655G>T	ExAC,gnomAD
MGAM	O43451	p.His1706Gln	rs1423281408	missense variant	-	NC_000007.14:g.142099669C>G	TOPMed,gnomAD
MGAM	O43451	p.His1706Arg	rs757879351	missense variant	-	NC_000007.14:g.142099668A>G	ExAC,gnomAD
MGAM	O43451	p.Ile1707Val	rs1012748763	missense variant	-	NC_000007.14:g.142099670A>G	TOPMed
MGAM	O43451	p.Asn1708Ser	rs1385757479	missense variant	-	NC_000007.14:g.142099674A>G	TOPMed
MGAM	O43451	p.Leu1709Pro	rs778292072	missense variant	-	NC_000007.14:g.142099677T>C	ExAC,gnomAD
MGAM	O43451	p.His1710Pro	rs747517001	missense variant	-	NC_000007.14:g.142099680A>C	ExAC,gnomAD
MGAM	O43451	p.Arg1712Cys	rs372412602	missense variant	-	NC_000007.14:g.142099685C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1712Leu	rs781602751	missense variant	-	NC_000007.14:g.142099686G>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1712His	rs781602751	missense variant	-	NC_000007.14:g.142099686G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1712Pro	rs781602751	missense variant	-	NC_000007.14:g.142099686G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1713Arg	rs775690591	missense variant	-	NC_000007.14:g.142099688G>A	ExAC,gnomAD
MGAM	O43451	p.Gly1713Trp	rs775690591	missense variant	-	NC_000007.14:g.142099688G>T	ExAC,gnomAD
MGAM	O43451	p.Gly1714Asp	rs1441268914	missense variant	-	NC_000007.14:g.142099692G>A	gnomAD
MGAM	O43451	p.Ile1716Val	rs1179177926	missense variant	-	NC_000007.14:g.142099697A>G	TOPMed
MGAM	O43451	p.Pro1718Leu	rs768669879	missense variant	-	NC_000007.14:g.142099704C>T	ExAC,gnomAD
MGAM	O43451	p.Pro1718Arg	rs768669879	missense variant	-	NC_000007.14:g.142099704C>G	ExAC,gnomAD
MGAM	O43451	p.Trp1719Cys	rs1243689919	missense variant	-	NC_000007.14:g.142099708G>T	gnomAD
MGAM	O43451	p.Trp1719Arg	rs1481061198	missense variant	-	NC_000007.14:g.142099706T>C	TOPMed
MGAM	O43451	p.Glu1721Gln	rs773173503	missense variant	-	NC_000007.14:g.142099712G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1722Thr	rs760600176	missense variant	-	NC_000007.14:g.142099715C>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Pro1722Ser	rs760600176	missense variant	-	NC_000007.14:g.142099715C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1726Asn	rs1197591109	missense variant	-	NC_000007.14:g.142099728C>A	gnomAD
MGAM	O43451	p.Leu1728Phe	rs561976926	missense variant	-	NC_000007.14:g.142099735A>C	1000Genomes,TOPMed
MGAM	O43451	p.Ser1729Asn	rs766266700	missense variant	-	NC_000007.14:g.142099737G>A	ExAC,gnomAD
MGAM	O43451	p.Arg1730His	rs200582702	missense variant	-	NC_000007.14:g.142100804G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Arg1730Cys	rs762579452	missense variant	-	NC_000007.14:g.142100803C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Phe1733Leu	rs576684251	missense variant	-	NC_000007.14:g.142100814C>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Met1734Ile	rs1302024549	missense variant	-	NC_000007.14:g.142100817G>A	gnomAD
MGAM	O43451	p.Met1734Thr	rs1468076892	missense variant	-	NC_000007.14:g.142100816T>C	gnomAD
MGAM	O43451	p.Gly1735Asp	rs1385657483	missense variant	-	NC_000007.14:g.142100819G>A	gnomAD
MGAM	O43451	p.Ala1739Ser	rs1383850235	missense variant	-	NC_000007.14:g.142100830G>T	gnomAD
MGAM	O43451	p.Leu1740Val	rs767969164	missense variant	-	NC_000007.14:g.142100833T>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1740Ser	rs756442085	missense variant	-	NC_000007.14:g.142100834T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1741Gly	rs1165508895	missense variant	-	NC_000007.14:g.142100837A>G	TOPMed
MGAM	O43451	p.Asp1741Val	rs1165508895	missense variant	-	NC_000007.14:g.142100837A>T	TOPMed
MGAM	O43451	p.Asp1742Val	rs1406058828	missense variant	-	NC_000007.14:g.142100840A>T	TOPMed
MGAM	O43451	p.Gly1744Val	rs780353179	missense variant	-	NC_000007.14:g.142100846G>T	ExAC,gnomAD
MGAM	O43451	p.Ala1746Val	rs754082053	missense variant	-	NC_000007.14:g.142100852C>T	ExAC,gnomAD
MGAM	O43451	p.Gly1747Arg	rs768304137	missense variant	-	NC_000007.14:g.142100854G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1747Arg	rs768304137	missense variant	-	NC_000007.14:g.142100854G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1748Cys	rs1261672574	missense variant	-	NC_000007.14:g.142100857G>T	TOPMed,gnomAD
MGAM	O43451	p.Asp1753Val	rs1203911144	missense variant	-	NC_000007.14:g.142100873A>T	gnomAD
MGAM	O43451	p.Asp1754Asn	rs779200546	missense variant	-	NC_000007.14:g.142100875G>A	ExAC,gnomAD
MGAM	O43451	p.Gln1756Lys	rs1199471996	missense variant	-	NC_000007.14:g.142100881C>A	gnomAD
MGAM	O43451	p.Ile1758Thr	rs748138224	missense variant	-	NC_000007.14:g.142100888T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1759Val	rs778953832	missense variant	-	NC_000007.14:g.142102630A>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1760Asn	rs1298788744	missense variant	-	NC_000007.14:g.142102633C>A	gnomAD
MGAM	O43451	p.Thr1760Ala	rs1206987147	missense variant	-	NC_000007.14:g.142102632A>G	TOPMed
MGAM	O43451	p.Tyr1761His	rs1390119294	missense variant	-	NC_000007.14:g.142102635T>C	gnomAD
MGAM	O43451	p.Tyr1761Cys	rs778065310	missense variant	-	NC_000007.14:g.142102636A>G	ExAC,gnomAD
MGAM	O43451	p.Gly1762Glu	rs868728160	missense variant	-	NC_000007.14:g.142102639G>A	TOPMed
MGAM	O43451	p.Gly1764Arg	rs769559638	missense variant	-	NC_000007.14:g.142102644G>A	ExAC,gnomAD
MGAM	O43451	p.Tyr1766Cys	rs1290111282	missense variant	-	NC_000007.14:g.142102651A>G	TOPMed,gnomAD
MGAM	O43451	p.Ala1769Val	rs377502170	missense variant	-	NC_000007.14:g.142102660C>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1769Ser	rs768515846	missense variant	-	NC_000007.14:g.142102659G>T	ExAC,gnomAD
MGAM	O43451	p.Ala1769Gly	rs377502170	missense variant	-	NC_000007.14:g.142102660C>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1769Thr	rs768515846	missense variant	-	NC_000007.14:g.142102659G>A	ExAC,gnomAD
MGAM	O43451	p.Ser1770Asn	rs771561286	missense variant	-	NC_000007.14:g.142102663G>A	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ala1773Ser	rs1237492601	missense variant	-	NC_000007.14:g.142102671G>T	gnomAD
MGAM	O43451	p.Gln1775His	rs772655841	missense variant	-	NC_000007.14:g.142102679G>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1777Ala	rs569263215	missense variant	-	NC_000007.14:g.142103272A>G	1000Genomes,gnomAD
MGAM	O43451	p.Thr1777Met	rs778740556	missense variant	-	NC_000007.14:g.142103273C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1778Thr	rs116770864	missense variant	-	NC_000007.14:g.142103276T>C	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Met1778Leu	rs771649432	missense variant	-	NC_000007.14:g.142103275A>C	ExAC,gnomAD
MGAM	O43451	p.Ser1780Asn	rs1045545389	missense variant	-	NC_000007.14:g.142103282G>A	TOPMed,gnomAD
MGAM	O43451	p.His1781Tyr	rs1430116455	missense variant	-	NC_000007.14:g.142103284C>T	TOPMed,gnomAD
MGAM	O43451	p.His1781Arg	rs746455967	missense variant	-	NC_000007.14:g.142103285A>G	ExAC,gnomAD
MGAM	O43451	p.Ile1782Met	rs1335338094	missense variant	-	NC_000007.14:g.142103289A>G	gnomAD
MGAM	O43451	p.Ile1783Val	rs140217455	missense variant	-	NC_000007.14:g.142103290A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1783Thr	rs776974464	missense variant	-	NC_000007.14:g.142103291T>C	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Tyr1787Phe	rs1001623928	missense variant	-	NC_000007.14:g.142103303A>T	TOPMed
MGAM	O43451	p.Tyr1787Ter	rs777914137	stop gained	-	NC_000007.14:g.142103303dup	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Gly1790Asp	rs1324902772	missense variant	-	NC_000007.14:g.142103312G>A	TOPMed
MGAM	O43451	p.Thr1791Ala	rs760153555	missense variant	-	NC_000007.14:g.142103314A>G	ExAC,gnomAD
MGAM	O43451	p.Asn1792Asp	rs1298258349	missense variant	-	NC_000007.14:g.142103317A>G	TOPMed
MGAM	O43451	p.Leu1794Ser	rs201177568	missense variant	-	NC_000007.14:g.142103324T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1794Phe	rs1276420880	missense variant	-	NC_000007.14:g.142103325G>C	gnomAD
MGAM	O43451	p.Ile1799Leu	rs1311599602	missense variant	-	NC_000007.14:g.142103338A>C	gnomAD
MGAM	O43451	p.Ile1799Thr	rs763414236	missense variant	-	NC_000007.14:g.142103339T>C	ExAC,gnomAD
MGAM	O43451	p.Ile1799Val	rs1311599602	missense variant	-	NC_000007.14:g.142103338A>G	gnomAD
MGAM	O43451	p.Glu1800Lys	rs267601328	missense variant	-	NC_000007.14:g.142103341G>A	-
MGAM	O43451	p.Ile1801Val	rs534879249	missense variant	-	NC_000007.14:g.142103344A>G	1000Genomes,ExAC,gnomAD
MGAM	O43451	p.Trp1802Cys	rs760283646	missense variant	-	NC_000007.14:g.142103349G>T	TOPMed,gnomAD
MGAM	O43451	p.Trp1802Leu	rs373562174	missense variant	-	NC_000007.14:g.142103348G>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Trp1802Ter	rs760283646	stop gained	-	NC_000007.14:g.142103349G>A	TOPMed,gnomAD
MGAM	O43451	p.Trp1802Ser	rs373562174	missense variant	-	NC_000007.14:g.142103348G>C	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1804Leu	rs753708990	missense variant	-	NC_000007.14:g.142103353G>C	ExAC,gnomAD
MGAM	O43451	p.Val1804Ala	rs1375578885	missense variant	-	NC_000007.14:g.142103354T>C	TOPMed
MGAM	O43451	p.Val1804Leu	rs753708990	missense variant	-	NC_000007.14:g.142103353G>T	ExAC,gnomAD
MGAM	O43451	p.Gly1805Asp	rs754889220	missense variant	-	NC_000007.14:g.142103357G>A	ExAC,gnomAD
MGAM	O43451	p.Ser1806Asn	rs553324420	missense variant	-	NC_000007.14:g.142103360G>A	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1806Gly	rs368559734	missense variant	-	NC_000007.14:g.142103359A>G	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1807Asp	rs533087957	missense variant	-	NC_000007.14:g.142103363T>A	gnomAD
MGAM	O43451	p.Val1807Ala	rs533087957	missense variant	-	NC_000007.14:g.142103363T>C	gnomAD
MGAM	O43451	p.Pro1808Ser	rs1374422639	missense variant	-	NC_000007.14:g.142103365C>T	TOPMed
MGAM	O43451	p.Val1809Ile	rs200374214	missense variant	-	NC_000007.14:g.142103368G>A	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Val1812Phe	rs1253360261	missense variant	-	NC_000007.14:g.142103377G>T	gnomAD
MGAM	O43451	p.Ser1815Pro	rs745381940	missense variant	-	NC_000007.14:g.142103386T>C	ExAC,gnomAD
MGAM	O43451	p.Val1816Met	rs770357204	missense variant	-	NC_000007.14:g.142103389G>A	ExAC,gnomAD
MGAM	O43451	p.Ser1817Gly	rs776172168	missense variant	-	NC_000007.14:g.142103392A>G	ExAC,gnomAD
MGAM	O43451	p.Ser1817Asn	rs1286033944	missense variant	-	NC_000007.14:g.142103393G>A	gnomAD
MGAM	O43451	p.Met1819Arg	rs763356519	missense variant	-	NC_000007.14:g.142103399T>G	ExAC,gnomAD
MGAM	O43451	p.Val1820Ile	rs1216085434	missense variant	-	NC_000007.14:g.142103401G>A	gnomAD
MGAM	O43451	p.Val1820Ala	rs1292781222	missense variant	-	NC_000007.14:g.142103402T>C	gnomAD
MGAM	O43451	p.Thr1822Arg	rs769189278	missense variant	-	NC_000007.14:g.142103408C>G	ExAC,gnomAD
MGAM	O43451	p.Pro1823Leu	rs528761990	missense variant	-	NC_000007.14:g.142103411C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ser1824Phe	rs762160028	missense variant	-	NC_000007.14:g.142103414C>T	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1826Ser	rs767649344	missense variant	-	NC_000007.14:g.142103420A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1826Asp	rs966346783	missense variant	-	NC_000007.14:g.142103419A>G	TOPMed,gnomAD
MGAM	O43451	p.Asn1827Ser	rs1180682458	missense variant	-	NC_000007.14:g.142103423A>G	gnomAD
MGAM	O43451	p.Asn1827Asp	rs1179488617	missense variant	-	NC_000007.14:g.142103422A>G	gnomAD
MGAM	O43451	p.Pro1829Leu	rs189060335	missense variant	-	NC_000007.14:g.142103429C>T	1000Genomes,gnomAD
MGAM	O43451	p.Pro1829Arg	rs189060335	missense variant	-	NC_000007.14:g.142103429C>G	1000Genomes,gnomAD
MGAM	O43451	p.Thr1830Ala	rs750453309	missense variant	-	NC_000007.14:g.142103431A>G	ExAC,gnomAD
MGAM	O43451	p.Thr1830Ser	rs750453309	missense variant	-	NC_000007.14:g.142103431A>T	ExAC,gnomAD
MGAM	O43451	p.Thr1830Met	rs538845634	missense variant	-	NC_000007.14:g.142103432C>T	1000Genomes,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1831Ala	rs1337461713	missense variant	-	NC_000007.14:g.142103434A>G	TOPMed
MGAM	O43451	p.Gln1832His	rs1028696645	missense variant	-	NC_000007.14:g.142103439G>T	TOPMed,gnomAD
MGAM	O43451	p.Gln1832Arg	rs200238903	missense variant	-	NC_000007.14:g.142103438A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Leu1834Val	rs1367522321	missense variant	-	NC_000007.14:g.142105817T>G	TOPMed,gnomAD
MGAM	O43451	p.Asp1837Asn	rs1276639282	missense variant	-	NC_000007.14:g.142105826G>A	TOPMed,gnomAD
MGAM	O43451	p.Val1838Ala	rs1172157932	missense variant	-	NC_000007.14:g.142105830T>C	gnomAD
MGAM	O43451	p.Thr1839Ser	rs200216128	missense variant	-	NC_000007.14:g.142105832A>T	ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asp1840Asn	rs1464994716	missense variant	-	NC_000007.14:g.142105835G>A	TOPMed,gnomAD
MGAM	O43451	p.Asp1840Glu	rs1404005252	missense variant	-	NC_000007.14:g.142105837C>G	gnomAD
MGAM	O43451	p.Asp1840Gly	rs779320204	missense variant	-	NC_000007.14:g.142105836A>G	ExAC,gnomAD
MGAM	O43451	p.Asp1840His	rs1464994716	missense variant	-	NC_000007.14:g.142105835G>C	TOPMed,gnomAD
MGAM	O43451	p.Ser1844Gly	rs1394063676	missense variant	-	NC_000007.14:g.142105847A>G	gnomAD
MGAM	O43451	p.Ser1844Asn	rs748497040	missense variant	-	NC_000007.14:g.142105848G>A	ExAC,gnomAD
MGAM	O43451	p.His1846Leu	rs1483119312	missense variant	-	NC_000007.14:g.142105854A>T	TOPMed,gnomAD
MGAM	O43451	p.Asn1847Asp	rs773456429	missense variant	-	NC_000007.14:g.142105856A>G	ExAC,TOPMed,gnomAD
MGAM	O43451	p.Asn1847Ser	rs1276339092	missense variant	-	NC_000007.14:g.142105857A>G	gnomAD
MGAM	O43451	p.Thr1849Ala	rs747301445	missense variant	-	NC_000007.14:g.142105862A>G	ExAC,gnomAD
MGAM	O43451	p.Ser1850Leu	rs770988934	missense variant	-	NC_000007.14:g.142105866C>T	ExAC,gnomAD
MGAM	O43451	p.Leu1851Phe	rs1471485437	missense variant	-	NC_000007.14:g.142105870G>T	TOPMed
MGAM	O43451	p.Thr1852Met	rs370916883	missense variant	-	NC_000007.14:g.142105872C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Thr1852Lys	rs370916883	missense variant	-	NC_000007.14:g.142105872C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MGAM	O43451	p.Ile1854Val	rs1262920796	missense variant	-	NC_000007.14:g.142105877A>G	TOPMed,gnomAD
MGAM	O43451	p.Ser1855Asn	rs1447177148	missense variant	-	NC_000007.14:g.142105881G>A	gnomAD
MGAM	O43451	p.LeuTer1857LeuUnk	rs751944457	stop lost	-	NC_000007.14:g.142105889_142105890del	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Glu2Asp	rs1389050196	missense variant	-	NC_000013.11:g.80337700C>A	TOPMed,gnomAD
SPRY2	O43597	p.Glu2Lys	rs1433952843	missense variant	-	NC_000013.11:g.80337702C>T	gnomAD
SPRY2	O43597	p.Ala5Val	rs202021168	missense variant	-	NC_000013.11:g.80337692G>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Gln6Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337690G>C	NCI-TCGA
SPRY2	O43597	p.Gln6Arg	COSM4414438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337689T>C	NCI-TCGA Cosmic
SPRY2	O43597	p.Ser7Ile	rs1445307159	missense variant	-	NC_000013.11:g.80337686C>A	gnomAD
SPRY2	O43597	p.Ser7Gly	rs141948380	missense variant	-	NC_000013.11:g.80337687T>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser7GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.80337688_80337689insT	NCI-TCGA
SPRY2	O43597	p.Asn9Ser	rs567043511	missense variant	-	NC_000013.11:g.80337680T>C	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Gly10Arg	rs771424788	missense variant	-	NC_000013.11:g.80337678C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Gly10Arg	rs771424788	missense variant	-	NC_000013.11:g.80337678C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser11Leu	COSM3469869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337674G>A	NCI-TCGA Cosmic
SPRY2	O43597	p.Pro13Thr	rs1184243800	missense variant	-	NC_000013.11:g.80337669G>T	TOPMed
SPRY2	O43597	p.Gln16Glu	rs1012981412	missense variant	-	NC_000013.11:g.80337660G>C	TOPMed,gnomAD
SPRY2	O43597	p.Thr17Met	rs372480996	missense variant	-	NC_000013.11:g.80337656G>A	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Thr17Ser	rs774765586	missense variant	-	NC_000013.11:g.80337657T>A	gnomAD
SPRY2	O43597	p.Thr17Met	rs372480996	missense variant	-	NC_000013.11:g.80337656G>A	NCI-TCGA
SPRY2	O43597	p.Arg19Pro	rs368770309	missense variant	-	NC_000013.11:g.80337650C>G	ESP,gnomAD
SPRY2	O43597	p.Arg19His	rs368770309	missense variant	-	NC_000013.11:g.80337650C>T	ESP,gnomAD
SPRY2	O43597	p.Asp20Ala	rs141331436	missense variant	-	NC_000013.11:g.80337647T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Asp20Asn	rs1294807470	missense variant	-	NC_000013.11:g.80337648C>T	gnomAD
SPRY2	O43597	p.Gly21Ser	rs1326668831	missense variant	-	NC_000013.11:g.80337645C>T	gnomAD
SPRY2	O43597	p.Arg25Ser	rs767200640	missense variant	-	NC_000013.11:g.80337633G>T	ExAC,gnomAD
SPRY2	O43597	p.Arg25His	rs757245505	missense variant	-	NC_000013.11:g.80337632C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg25Gly	rs767200640	missense variant	-	NC_000013.11:g.80337633G>C	ExAC,gnomAD
SPRY2	O43597	p.Gly26Arg	rs1434458506	missense variant	-	NC_000013.11:g.80337630C>T	TOPMed
SPRY2	O43597	p.Glu27Gln	rs1389822163	missense variant	-	NC_000013.11:g.80337627C>G	gnomAD
SPRY2	O43597	p.Asp29Asn	rs751596093	missense variant	-	NC_000013.11:g.80337621C>T	ExAC,gnomAD
SPRY2	O43597	p.Pro30Thr	rs1174893630	missense variant	-	NC_000013.11:g.80337618G>T	TOPMed
SPRY2	O43597	p.Arg31Lys	rs1449032625	missense variant	-	NC_000013.11:g.80337614C>T	gnomAD
SPRY2	O43597	p.Arg31Gly	rs762829116	missense variant	-	NC_000013.11:g.80337615T>C	ExAC,gnomAD
SPRY2	O43597	p.Asp32Glu	rs771376928	missense variant	-	NC_000013.11:g.80337610G>T	ExAC,gnomAD
SPRY2	O43597	p.Ala33Asp	rs759745233	missense variant	-	NC_000013.11:g.80337608G>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ala33Val	rs759745233	missense variant	-	NC_000013.11:g.80337608G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ala33Val	rs759745233	missense variant	-	NC_000013.11:g.80337608G>A	NCI-TCGA
SPRY2	O43597	p.Gln37His	rs1223824474	missense variant	-	NC_000013.11:g.80337595C>G	gnomAD
SPRY2	O43597	p.Val38Leu	rs771050581	missense variant	-	NC_000013.11:g.80337594C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser42Pro	rs772271382	missense variant	-	NC_000013.11:g.80337582A>G	ExAC,gnomAD
SPRY2	O43597	p.Ser42Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337581G>T	NCI-TCGA
SPRY2	O43597	p.Gln45Arg	rs748556088	missense variant	-	NC_000013.11:g.80337572T>C	ExAC,gnomAD
SPRY2	O43597	p.Gln45His	rs200366516	missense variant	-	NC_000013.11:g.80337571C>A	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Ala48Val	rs1230673905	missense variant	-	NC_000013.11:g.80337563G>A	TOPMed,gnomAD
SPRY2	O43597	p.Ala48Gly	COSM697253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337563G>C	NCI-TCGA Cosmic
SPRY2	O43597	p.Ile49Phe	rs755783967	missense variant	-	NC_000013.11:g.80337561T>A	ExAC,gnomAD
SPRY2	O43597	p.Arg50Gln	rs200813001	missense variant	-	NC_000013.11:g.80337557C>T	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Arg50Gln	rs200813001	missense variant	-	NC_000013.11:g.80337557C>T	NCI-TCGA
SPRY2	O43597	p.Arg50Ter	COSM948816	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.80337558G>A	NCI-TCGA Cosmic
SPRY2	O43597	p.Thr52Ala	rs1345516409	missense variant	-	NC_000013.11:g.80337552T>C	TOPMed
SPRY2	O43597	p.Glu57Gly	COSM948815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337536T>C	NCI-TCGA Cosmic
SPRY2	O43597	p.Gly58Trp	COSM4923208	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337534C>A	NCI-TCGA Cosmic
SPRY2	O43597	p.Pro59Ser	rs1349891029	missense variant	-	NC_000013.11:g.80337531G>A	TOPMed
SPRY2	O43597	p.Thr60Ala	rs138802158	missense variant	-	NC_000013.11:g.80337528T>C	ESP,gnomAD
SPRY2	O43597	p.Val62Ile	COSM76578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337522C>T	NCI-TCGA Cosmic
SPRY2	O43597	p.Arg64Ile	rs947314080	missense variant	-	NC_000013.11:g.80337515C>A	gnomAD
SPRY2	O43597	p.Arg64Ile	rs947314080	missense variant	-	NC_000013.11:g.80337515C>A	NCI-TCGA
SPRY2	O43597	p.Gly66Arg	rs1169840391	missense variant	-	NC_000013.11:g.80337510C>T	gnomAD
SPRY2	O43597	p.Lys68Asn	rs369061793	missense variant	-	NC_000013.11:g.80337502C>A	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ala70Thr	rs759785348	missense variant	-	NC_000013.11:g.80337498C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ala70Pro	rs759785348	missense variant	-	NC_000013.11:g.80337498C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro71Leu	rs766410528	missense variant	-	NC_000013.11:g.80337494G>A	ExAC,gnomAD
SPRY2	O43597	p.Pro71Ser	rs754102296	missense variant	-	NC_000013.11:g.80337495G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg72His	rs143262252	missense variant	-	NC_000013.11:g.80337491C>T	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro73Ala	rs773647038	missense variant	-	NC_000013.11:g.80337489G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro73Leu	rs1198333643	missense variant	-	NC_000013.11:g.80337488G>A	gnomAD
SPRY2	O43597	p.Ser74Ala	rs762291759	missense variant	-	NC_000013.11:g.80337486A>C	ExAC,gnomAD
SPRY2	O43597	p.Thr75Ala	rs774762413	missense variant	-	NC_000013.11:g.80337483T>C	ExAC,gnomAD
SPRY2	O43597	p.Gln76Arg	rs1326893559	missense variant	-	NC_000013.11:g.80337479T>C	gnomAD
SPRY2	O43597	p.His77Pro	rs530541115	missense variant	-	NC_000013.11:g.80337476T>G	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.His77Arg	rs530541115	missense variant	-	NC_000013.11:g.80337476T>C	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Glu80Asp	rs777215929	missense variant	-	NC_000013.11:g.80337466C>G	ExAC,gnomAD
SPRY2	O43597	p.Glu80Gln	rs746523784	missense variant	-	NC_000013.11:g.80337468C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg81Thr	rs376920757	missense variant	-	NC_000013.11:g.80337464C>G	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg81Lys	rs376920757	missense variant	-	NC_000013.11:g.80337464C>T	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Leu82Pro	rs561847010	missense variant	-	NC_000013.11:g.80337461A>G	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Leu82Val	rs752628401	missense variant	-	NC_000013.11:g.80337462G>C	ExAC,gnomAD
SPRY2	O43597	p.Gly84Arg	rs754765201	missense variant	-	NC_000013.11:g.80337456C>G	ExAC,gnomAD
SPRY2	O43597	p.Gly84Ser	rs754765201	missense variant	-	NC_000013.11:g.80337456C>T	ExAC,gnomAD
SPRY2	O43597	p.Pro86Ala	rs1158468425	missense variant	-	NC_000013.11:g.80337450G>C	gnomAD
SPRY2	O43597	p.His88Tyr	rs1234069800	missense variant	-	NC_000013.11:g.80337444G>A	TOPMed,gnomAD
SPRY2	O43597	p.Arg89His	rs547859496	missense variant	-	NC_000013.11:g.80337440C>T	1000Genomes
SPRY2	O43597	p.Pro92Ser	rs766597189	missense variant	-	NC_000013.11:g.80337432G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Leu94Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337425A>C	NCI-TCGA
SPRY2	O43597	p.His96Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337419T>C	NCI-TCGA
SPRY2	O43597	p.Ser97Leu	rs1441415778	missense variant	-	NC_000013.11:g.80337416G>A	TOPMed,gnomAD
SPRY2	O43597	p.Gln98Pro	rs1245203690	missense variant	-	NC_000013.11:g.80337413T>G	gnomAD
SPRY2	O43597	p.Gln98Lys	rs202166263	missense variant	-	NC_000013.11:g.80337414G>T	1000Genomes,ExAC,TOPMed
SPRY2	O43597	p.His100Tyr	rs762358137	missense variant	-	NC_000013.11:g.80337408G>A	ExAC,gnomAD
SPRY2	O43597	p.Arg104Pro	rs1337608150	missense variant	-	NC_000013.11:g.80337395C>G	TOPMed,gnomAD
SPRY2	O43597	p.Arg104Gly	rs776355694	missense variant	-	NC_000013.11:g.80337396G>C	ExAC,gnomAD
SPRY2	O43597	p.Arg104Gln	rs1337608150	missense variant	-	NC_000013.11:g.80337395C>T	TOPMed,gnomAD
SPRY2	O43597	p.Ala105Gly	rs770702443	missense variant	-	NC_000013.11:g.80337392G>C	ExAC,gnomAD
SPRY2	O43597	p.Ala105Val	COSM3469868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337392G>A	NCI-TCGA Cosmic
SPRY2	O43597	p.Pro106Ser	rs504122	missense variant	-	NC_000013.11:g.80337390G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro106Arg	rs1401740371	missense variant	-	NC_000013.11:g.80337389G>C	gnomAD
SPRY2	O43597	p.Pro106Thr	rs504122	missense variant	-	NC_000013.11:g.80337390G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro106Ala	rs504122	missense variant	-	NC_000013.11:g.80337390G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg109Ser	rs771519323	missense variant	-	NC_000013.11:g.80337379T>A	ExAC,gnomAD
SPRY2	O43597	p.Ser110Cys	rs748075874	missense variant	-	NC_000013.11:g.80337377G>C	ExAC,gnomAD
SPRY2	O43597	p.Ser112Asn	rs754705712	missense variant	-	NC_000013.11:g.80337371C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser112Thr	rs754705712	missense variant	-	NC_000013.11:g.80337371C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Thr113Ala	rs61756189	missense variant	-	NC_000013.11:g.80337369T>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser116Leu	rs750696145	missense variant	-	NC_000013.11:g.80337359G>A	ExAC,gnomAD
SPRY2	O43597	p.Gly117Ala	rs1287620323	missense variant	-	NC_000013.11:g.80337356C>G	gnomAD
SPRY2	O43597	p.Ser118Leu	rs867349456	missense variant	-	NC_000013.11:g.80337353G>A	TOPMed,gnomAD
SPRY2	O43597	p.Arg119Trp	RCV000207508	missense variant	IgA nephropathy, susceptibility to, 3 (IGAN3)	NC_000013.11:g.80337351G>A	ClinVar
SPRY2	O43597	p.Arg119Pro	rs1315863703	missense variant	-	NC_000013.11:g.80337350C>G	gnomAD
SPRY2	O43597	p.Arg119Gln	rs1315863703	missense variant	-	NC_000013.11:g.80337350C>T	gnomAD
SPRY2	O43597	p.Arg119Trp	rs869025336	missense variant	-	NC_000013.11:g.80337351G>A	TOPMed,gnomAD
SPRY2	O43597	p.Arg119Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337350C>A	NCI-TCGA
SPRY2	O43597	p.Arg119Gln	rs1315863703	missense variant	-	NC_000013.11:g.80337350C>T	NCI-TCGA Cosmic
SPRY2	O43597	p.Ser120Gly	rs1363308358	missense variant	-	NC_000013.11:g.80337348T>C	gnomAD
SPRY2	O43597	p.Ser121Thr	rs1269908375	missense variant	-	NC_000013.11:g.80337344C>G	gnomAD
SPRY2	O43597	p.Thr122Ala	rs147789290	missense variant	-	NC_000013.11:g.80337342T>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Thr122Met	rs752056670	missense variant	-	NC_000013.11:g.80337341G>A	ExAC,gnomAD
SPRY2	O43597	p.Arg123Thr	rs775982350	missense variant	-	NC_000013.11:g.80337338C>G	ExAC,gnomAD
SPRY2	O43597	p.Arg123Trp	rs144291807	missense variant	-	NC_000013.11:g.80337339T>A	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg123Lys	rs775982350	missense variant	-	NC_000013.11:g.80337338C>T	ExAC,gnomAD
SPRY2	O43597	p.Arg123Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337338C>A	NCI-TCGA
SPRY2	O43597	p.Ser127Thr	rs1312541122	missense variant	-	NC_000013.11:g.80337326C>G	gnomAD
SPRY2	O43597	p.Ser127Arg	rs577081286	missense variant	-	NC_000013.11:g.80337325G>T	1000Genomes
SPRY2	O43597	p.Ser127Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337327T>C	NCI-TCGA
SPRY2	O43597	p.Gln133Glu	rs772768746	missense variant	-	NC_000013.11:g.80337309G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Leu135Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337303G>T	NCI-TCGA
SPRY2	O43597	p.Leu136Pro	rs1373899933	missense variant	-	NC_000013.11:g.80337299A>G	TOPMed
SPRY2	O43597	p.Gly137Glu	rs747621224	missense variant	-	NC_000013.11:g.80337296C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Gly137Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337297C>T	NCI-TCGA
SPRY2	O43597	p.Ser138Ter	rs1330785319	stop gained	-	NC_000013.11:g.80337293G>C	TOPMed,gnomAD
SPRY2	O43597	p.Phe140Ser	rs746584791	missense variant	-	NC_000013.11:g.80337287A>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser141Pro	rs768580715	missense variant	-	NC_000013.11:g.80337285A>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser141Tyr	rs1291535013	missense variant	-	NC_000013.11:g.80337284G>T	TOPMed
SPRY2	O43597	p.Ser142Pro	rs779805758	missense variant	-	NC_000013.11:g.80337282A>G	ExAC,gnomAD
SPRY2	O43597	p.Ser142Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337281G>A	NCI-TCGA
SPRY2	O43597	p.Gly143Arg	rs778275764	missense variant	-	NC_000013.11:g.80337279C>T	TOPMed,gnomAD
SPRY2	O43597	p.Gly143Arg	rs778275764	missense variant	-	NC_000013.11:g.80337279C>G	TOPMed,gnomAD
SPRY2	O43597	p.Pro144Ser	COSM3885535	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337276G>A	NCI-TCGA Cosmic
SPRY2	O43597	p.Val145Phe	rs146602387	missense variant	-	NC_000013.11:g.80337273C>A	1000Genomes
SPRY2	O43597	p.Ala146Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337269G>A	NCI-TCGA
SPRY2	O43597	p.Ala146Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337270C>T	NCI-TCGA
SPRY2	O43597	p.Gly148Ser	rs904292048	missense variant	-	NC_000013.11:g.80337264C>T	TOPMed
SPRY2	O43597	p.Ile149Val	rs367880580	missense variant	-	NC_000013.11:g.80337261T>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ile150Val	rs1417193005	missense variant	-	NC_000013.11:g.80337258T>C	TOPMed
SPRY2	O43597	p.Arg151Gly	rs770217072	missense variant	-	NC_000013.11:g.80337255G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg151Gln	rs1167458110	missense variant	-	NC_000013.11:g.80337254C>T	TOPMed
SPRY2	O43597	p.Arg151Trp	rs770217072	missense variant	-	NC_000013.11:g.80337255G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg151Trp	rs770217072	missense variant	-	NC_000013.11:g.80337255G>A	NCI-TCGA,NCI-TCGA Cosmic
SPRY2	O43597	p.Val152Ala	rs35327895	missense variant	-	NC_000013.11:g.80337251A>G	gnomAD
SPRY2	O43597	p.Pro154His	rs1427241781	missense variant	-	NC_000013.11:g.80337245G>T	gnomAD
SPRY2	O43597	p.Lys155Gln	rs764325903	missense variant	-	NC_000013.11:g.80337243T>G	ExAC,gnomAD
SPRY2	O43597	p.Leu158Ile	rs1408015996	missense variant	-	NC_000013.11:g.80337234G>T	TOPMed
SPRY2	O43597	p.Leu163Phe	rs575635189	missense variant	-	NC_000013.11:g.80337219G>A	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Pro165Ser	COSM948814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337213G>A	NCI-TCGA Cosmic
SPRY2	O43597	p.Glu169Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337201C>T	NCI-TCGA
SPRY2	O43597	p.Glu169Val	rs1355075892	missense variant	-	NC_000013.11:g.80337200T>A	TOPMed
SPRY2	O43597	p.Leu171Trp	rs1270955592	missense variant	-	NC_000013.11:g.80337194A>C	gnomAD
SPRY2	O43597	p.Gly172Cys	rs765654053	missense variant	-	NC_000013.11:g.80337192C>A	ExAC,gnomAD
SPRY2	O43597	p.Gly172Cys	rs765654053	missense variant	-	NC_000013.11:g.80337192C>A	NCI-TCGA,NCI-TCGA Cosmic
SPRY2	O43597	p.Ala175Thr	rs572406337	missense variant	-	NC_000013.11:g.80337183C>T	TOPMed
SPRY2	O43597	p.Tyr176Asn	rs767076954	missense variant	-	NC_000013.11:g.80337180A>T	ExAC,gnomAD
SPRY2	O43597	p.Arg177Ser	rs554006225	missense variant	-	NC_000013.11:g.80337175C>A	gnomAD
SPRY2	O43597	p.Gly182Asp	rs761596736	missense variant	-	NC_000013.11:g.80337161C>T	ExAC,gnomAD
SPRY2	O43597	p.Lys185Arg	rs1324785933	missense variant	-	NC_000013.11:g.80337152T>C	TOPMed,gnomAD
SPRY2	O43597	p.Lys185Thr	rs1324785933	missense variant	-	NC_000013.11:g.80337152T>G	TOPMed,gnomAD
SPRY2	O43597	p.Glu188Gly	rs773723743	missense variant	-	NC_000013.11:g.80337143T>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Tyr191Phe	COSM6139560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337134T>A	NCI-TCGA Cosmic
SPRY2	O43597	p.Arg193Met	COSM948812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337128C>A	NCI-TCGA Cosmic
SPRY2	O43597	p.Pro194Leu	rs749195415	missense variant	-	NC_000013.11:g.80337125G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro194Arg	rs749195415	missense variant	-	NC_000013.11:g.80337125G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Asp198His	rs769531251	missense variant	-	NC_000013.11:g.80337114C>G	ExAC,gnomAD
SPRY2	O43597	p.Trp199Ser	rs745663741	missense variant	-	NC_000013.11:g.80337110C>G	ExAC,gnomAD
SPRY2	O43597	p.Trp199Ter	rs745663741	stop gained	-	NC_000013.11:g.80337110C>T	ExAC,gnomAD
SPRY2	O43597	p.Cys201AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.80337106G>-	NCI-TCGA
SPRY2	O43597	p.Asp202Asn	rs771563312	missense variant	-	NC_000013.11:g.80337102C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Lys203Arg	rs747303716	missense variant	-	NC_000013.11:g.80337098T>C	ExAC,gnomAD
SPRY2	O43597	p.Cys205Ser	rs1257428671	missense variant	-	NC_000013.11:g.80337092C>G	TOPMed
SPRY2	O43597	p.Leu206Phe	rs777966595	missense variant	-	NC_000013.11:g.80337090G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Asp214Glu	rs150929865	missense variant	-	NC_000013.11:g.80337064G>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Asp214Gly	COSM948810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80337065T>C	NCI-TCGA Cosmic
SPRY2	O43597	p.Tyr215Cys	rs755298994	missense variant	-	NC_000013.11:g.80337062T>C	ExAC,gnomAD
SPRY2	O43597	p.Val219Ala	rs766828965	missense variant	-	NC_000013.11:g.80337050A>G	ExAC,gnomAD
SPRY2	O43597	p.Cys221Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337044C>T	NCI-TCGA
SPRY2	O43597	p.Gly224Ser	rs751254982	missense variant	-	NC_000013.11:g.80337036C>T	ExAC,gnomAD
SPRY2	O43597	p.Phe226Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337030A>G	NCI-TCGA
SPRY2	O43597	p.His228Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80337024G>C	NCI-TCGA
SPRY2	O43597	p.Asp233Glu	rs573193459	missense variant	-	NC_000013.11:g.80337007A>C	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Asp239Glu	rs1272944733	missense variant	-	NC_000013.11:g.80336989G>C	TOPMed,gnomAD
SPRY2	O43597	p.Asn240Ser	rs775349105	missense variant	-	NC_000013.11:g.80336987T>C	ExAC,gnomAD
SPRY2	O43597	p.Cys242Tyr	rs1171758198	missense variant	-	NC_000013.11:g.80336981C>T	TOPMed
SPRY2	O43597	p.Cys244Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.80336974G>T	NCI-TCGA
SPRY2	O43597	p.Gln246His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80336968C>A	NCI-TCGA
SPRY2	O43597	p.His248Pro	rs1452884347	missense variant	-	NC_000013.11:g.80336963T>G	gnomAD
SPRY2	O43597	p.His248Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80336962G>C	NCI-TCGA
SPRY2	O43597	p.Cys249Tyr	COSM469588	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.80336960C>T	NCI-TCGA Cosmic
SPRY2	O43597	p.Trp253Leu	rs1161275655	missense variant	-	NC_000013.11:g.80336948C>A	gnomAD
SPRY2	O43597	p.Met256Leu	rs1335539836	missense variant	-	NC_000013.11:g.80336940T>A	TOPMed
SPRY2	O43597	p.Val258Ile	rs776268097	missense variant	-	NC_000013.11:g.80336934C>T	ExAC,gnomAD
SPRY2	O43597	p.Met259Val	rs1383507887	missense variant	-	NC_000013.11:g.80336931T>C	gnomAD
SPRY2	O43597	p.Leu263Phe	rs1183175721	missense variant	-	NC_000013.11:g.80336917C>G	gnomAD
SPRY2	O43597	p.Cys265Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.80336912_80336913insTTT	NCI-TCGA
SPRY2	O43597	p.Cys268Gly	rs770798214	missense variant	-	NC_000013.11:g.80336904A>C	ExAC,gnomAD
SPRY2	O43597	p.Ala272Ser	rs1203763232	missense variant	-	NC_000013.11:g.80336892C>A	gnomAD
SPRY2	O43597	p.Lys273Arg	rs747157293	missense variant	-	NC_000013.11:g.80336888T>C	ExAC,gnomAD
SPRY2	O43597	p.Gly274Cys	rs370842722	missense variant	-	NC_000013.11:g.80336886C>A	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Cys275Tyr	rs1244855227	missense variant	-	NC_000013.11:g.80336882C>T	TOPMed,gnomAD
SPRY2	O43597	p.Gly281Glu	rs79066821	missense variant	-	NC_000013.11:g.80336864C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Gly281Val	rs79066821	missense variant	-	NC_000013.11:g.80336864C>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg285Gly	rs748239106	missense variant	-	NC_000013.11:g.80336853G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg285Gln	rs779197678	missense variant	-	NC_000013.11:g.80336852C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg285Trp	rs748239106	missense variant	-	NC_000013.11:g.80336853G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Asn287Lys	rs1384547834	missense variant	-	NC_000013.11:g.80336845G>C	gnomAD
SPRY2	O43597	p.Cys291Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80336835A>G	NCI-TCGA
SPRY2	O43597	p.Arg292His	rs1451158201	missense variant	-	NC_000013.11:g.80336831C>T	TOPMed
SPRY2	O43597	p.Arg292Cys	rs751166788	missense variant	-	NC_000013.11:g.80336832G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg292Cys	rs751166788	missense variant	-	NC_000013.11:g.80336832G>A	NCI-TCGA,NCI-TCGA Cosmic
SPRY2	O43597	p.Cys293Arg	rs1363735546	missense variant	-	NC_000013.11:g.80336829A>G	gnomAD
SPRY2	O43597	p.Lys294Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80336825T>G	NCI-TCGA
SPRY2	O43597	p.Lys294Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80336826T>C	NCI-TCGA
SPRY2	O43597	p.Asn295His	rs1191449743	missense variant	-	NC_000013.11:g.80336823T>G	TOPMed
SPRY2	O43597	p.Asn295Ser	rs763750552	missense variant	-	NC_000013.11:g.80336822T>C	ExAC
SPRY2	O43597	p.Ser296Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.80336819G>C	NCI-TCGA
SPRY2	O43597	p.Asn297Tyr	rs1163020327	missense variant	-	NC_000013.11:g.80336817T>A	gnomAD
SPRY2	O43597	p.Asn297GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.80336814_80336817TGTT>-	NCI-TCGA
SPRY2	O43597	p.Asn297Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80336816T>G	NCI-TCGA
SPRY2	O43597	p.Thr298Ser	rs1425467478	missense variant	-	NC_000013.11:g.80336814T>A	gnomAD
SPRY2	O43597	p.Val299Ala	rs762383535	missense variant	-	NC_000013.11:g.80336810A>G	ExAC,gnomAD
SPRY2	O43597	p.Cys301Tyr	rs752200065	missense variant	-	NC_000013.11:g.80336804C>T	ExAC,gnomAD
SPRY2	O43597	p.Thr305Asn	rs1262917592	missense variant	-	NC_000013.11:g.80336792G>T	gnomAD
SPRY2	O43597	p.Thr305Ser	rs1262917592	missense variant	-	NC_000013.11:g.80336792G>C	gnomAD
SPRY2	O43597	p.Val306Ile	rs759359294	missense variant	-	NC_000013.11:g.80336790C>T	ExAC,gnomAD
SPRY2	O43597	p.Val306Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.80336789A>G	NCI-TCGA
SPRY2	O43597	p.Pro307Thr	rs766036986	missense variant	-	NC_000013.11:g.80336787G>T	ExAC,gnomAD
SPRY2	O43597	p.Pro307Arg	rs760529490	missense variant	-	NC_000013.11:g.80336786G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro307Leu	rs760529490	missense variant	-	NC_000013.11:g.80336786G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro308Ala	rs981467157	missense variant	-	NC_000013.11:g.80336784G>C	TOPMed,gnomAD
SPRY2	O43597	p.Pro308Ser	rs981467157	missense variant	-	NC_000013.11:g.80336784G>A	TOPMed,gnomAD
SPRY2	O43597	p.Pro308LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.80336783G>-	NCI-TCGA
SPRY2	O43597	p.Glu312Gly	rs748443333	missense variant	-	NC_000013.11:g.80336771T>C	ExAC,gnomAD
SPRY2	O43597	p.Lys313AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.80336767T>-	NCI-TCGA
SPRY2	O43597	p.Ter316Leu	rs1425368251	stop lost	-	NC_000013.11:g.80336759T>A	gnomAD
SPRY2	O43597	p.Ter316Gln	rs987689192	stop lost	-	NC_000013.11:g.80336760A>G	TOPMed,gnomAD
SPRY2	O43597	p.Glu2Lys	rs1433952843	missense variant	-	NC_000013.11:g.80337702C>T	gnomAD
SPRY2	O43597	p.Glu2Asp	rs1389050196	missense variant	-	NC_000013.11:g.80337700C>A	TOPMed,gnomAD
SPRY2	O43597	p.Ala5Val	rs202021168	missense variant	-	NC_000013.11:g.80337692G>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser7Gly	rs141948380	missense variant	-	NC_000013.11:g.80337687T>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser7Ile	rs1445307159	missense variant	-	NC_000013.11:g.80337686C>A	gnomAD
SPRY2	O43597	p.Asn9Ser	rs567043511	missense variant	-	NC_000013.11:g.80337680T>C	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Gly10Arg	rs771424788	missense variant	-	NC_000013.11:g.80337678C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Gly10Arg	rs771424788	missense variant	-	NC_000013.11:g.80337678C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro13Thr	rs1184243800	missense variant	-	NC_000013.11:g.80337669G>T	TOPMed
SPRY2	O43597	p.Gln16Glu	rs1012981412	missense variant	-	NC_000013.11:g.80337660G>C	TOPMed,gnomAD
SPRY2	O43597	p.Thr17Met	rs372480996	missense variant	-	NC_000013.11:g.80337656G>A	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Thr17Ser	rs774765586	missense variant	-	NC_000013.11:g.80337657T>A	gnomAD
SPRY2	O43597	p.Arg19Pro	rs368770309	missense variant	-	NC_000013.11:g.80337650C>G	ESP,gnomAD
SPRY2	O43597	p.Arg19His	rs368770309	missense variant	-	NC_000013.11:g.80337650C>T	ESP,gnomAD
SPRY2	O43597	p.Asp20Ala	rs141331436	missense variant	-	NC_000013.11:g.80337647T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Asp20Asn	rs1294807470	missense variant	-	NC_000013.11:g.80337648C>T	gnomAD
SPRY2	O43597	p.Gly21Ser	rs1326668831	missense variant	-	NC_000013.11:g.80337645C>T	gnomAD
SPRY2	O43597	p.Arg25Ser	rs767200640	missense variant	-	NC_000013.11:g.80337633G>T	ExAC,gnomAD
SPRY2	O43597	p.Arg25His	rs757245505	missense variant	-	NC_000013.11:g.80337632C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg25Gly	rs767200640	missense variant	-	NC_000013.11:g.80337633G>C	ExAC,gnomAD
SPRY2	O43597	p.Gly26Arg	rs1434458506	missense variant	-	NC_000013.11:g.80337630C>T	TOPMed
SPRY2	O43597	p.Glu27Gln	rs1389822163	missense variant	-	NC_000013.11:g.80337627C>G	gnomAD
SPRY2	O43597	p.Asp29Asn	rs751596093	missense variant	-	NC_000013.11:g.80337621C>T	ExAC,gnomAD
SPRY2	O43597	p.Pro30Thr	rs1174893630	missense variant	-	NC_000013.11:g.80337618G>T	TOPMed
SPRY2	O43597	p.Arg31Gly	rs762829116	missense variant	-	NC_000013.11:g.80337615T>C	ExAC,gnomAD
SPRY2	O43597	p.Arg31Lys	rs1449032625	missense variant	-	NC_000013.11:g.80337614C>T	gnomAD
SPRY2	O43597	p.Asp32Glu	rs771376928	missense variant	-	NC_000013.11:g.80337610G>T	ExAC,gnomAD
SPRY2	O43597	p.Ala33Val	rs759745233	missense variant	-	NC_000013.11:g.80337608G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ala33Asp	rs759745233	missense variant	-	NC_000013.11:g.80337608G>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Gln37His	rs1223824474	missense variant	-	NC_000013.11:g.80337595C>G	gnomAD
SPRY2	O43597	p.Val38Leu	rs771050581	missense variant	-	NC_000013.11:g.80337594C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser42Pro	rs772271382	missense variant	-	NC_000013.11:g.80337582A>G	ExAC,gnomAD
SPRY2	O43597	p.Gln45His	rs200366516	missense variant	-	NC_000013.11:g.80337571C>A	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Gln45Arg	rs748556088	missense variant	-	NC_000013.11:g.80337572T>C	ExAC,gnomAD
SPRY2	O43597	p.Ala48Val	rs1230673905	missense variant	-	NC_000013.11:g.80337563G>A	TOPMed,gnomAD
SPRY2	O43597	p.Ile49Phe	rs755783967	missense variant	-	NC_000013.11:g.80337561T>A	ExAC,gnomAD
SPRY2	O43597	p.Arg50Gln	rs200813001	missense variant	-	NC_000013.11:g.80337557C>T	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Thr52Ala	rs1345516409	missense variant	-	NC_000013.11:g.80337552T>C	TOPMed
SPRY2	O43597	p.Pro59Ser	rs1349891029	missense variant	-	NC_000013.11:g.80337531G>A	TOPMed
SPRY2	O43597	p.Thr60Ala	rs138802158	missense variant	-	NC_000013.11:g.80337528T>C	ESP,gnomAD
SPRY2	O43597	p.Arg64Ile	rs947314080	missense variant	-	NC_000013.11:g.80337515C>A	gnomAD
SPRY2	O43597	p.Gly66Arg	rs1169840391	missense variant	-	NC_000013.11:g.80337510C>T	gnomAD
SPRY2	O43597	p.Lys68Asn	rs369061793	missense variant	-	NC_000013.11:g.80337502C>A	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ala70Thr	rs759785348	missense variant	-	NC_000013.11:g.80337498C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ala70Pro	rs759785348	missense variant	-	NC_000013.11:g.80337498C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro71Ser	rs754102296	missense variant	-	NC_000013.11:g.80337495G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro71Leu	rs766410528	missense variant	-	NC_000013.11:g.80337494G>A	ExAC,gnomAD
SPRY2	O43597	p.Arg72His	rs143262252	missense variant	-	NC_000013.11:g.80337491C>T	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro73Ala	rs773647038	missense variant	-	NC_000013.11:g.80337489G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro73Leu	rs1198333643	missense variant	-	NC_000013.11:g.80337488G>A	gnomAD
SPRY2	O43597	p.Ser74Ala	rs762291759	missense variant	-	NC_000013.11:g.80337486A>C	ExAC,gnomAD
SPRY2	O43597	p.Thr75Ala	rs774762413	missense variant	-	NC_000013.11:g.80337483T>C	ExAC,gnomAD
SPRY2	O43597	p.Gln76Arg	rs1326893559	missense variant	-	NC_000013.11:g.80337479T>C	gnomAD
SPRY2	O43597	p.His77Pro	rs530541115	missense variant	-	NC_000013.11:g.80337476T>G	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.His77Arg	rs530541115	missense variant	-	NC_000013.11:g.80337476T>C	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Glu80Asp	rs777215929	missense variant	-	NC_000013.11:g.80337466C>G	ExAC,gnomAD
SPRY2	O43597	p.Glu80Gln	rs746523784	missense variant	-	NC_000013.11:g.80337468C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg81Thr	rs376920757	missense variant	-	NC_000013.11:g.80337464C>G	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg81Lys	rs376920757	missense variant	-	NC_000013.11:g.80337464C>T	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Leu82Pro	rs561847010	missense variant	-	NC_000013.11:g.80337461A>G	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Leu82Val	rs752628401	missense variant	-	NC_000013.11:g.80337462G>C	ExAC,gnomAD
SPRY2	O43597	p.Gly84Arg	rs754765201	missense variant	-	NC_000013.11:g.80337456C>G	ExAC,gnomAD
SPRY2	O43597	p.Gly84Ser	rs754765201	missense variant	-	NC_000013.11:g.80337456C>T	ExAC,gnomAD
SPRY2	O43597	p.Pro86Ala	rs1158468425	missense variant	-	NC_000013.11:g.80337450G>C	gnomAD
SPRY2	O43597	p.His88Tyr	rs1234069800	missense variant	-	NC_000013.11:g.80337444G>A	TOPMed,gnomAD
SPRY2	O43597	p.Arg89His	rs547859496	missense variant	-	NC_000013.11:g.80337440C>T	1000Genomes
SPRY2	O43597	p.Pro92Ser	rs766597189	missense variant	-	NC_000013.11:g.80337432G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser97Leu	rs1441415778	missense variant	-	NC_000013.11:g.80337416G>A	TOPMed,gnomAD
SPRY2	O43597	p.Gln98Lys	rs202166263	missense variant	-	NC_000013.11:g.80337414G>T	1000Genomes,ExAC,TOPMed
SPRY2	O43597	p.Gln98Pro	rs1245203690	missense variant	-	NC_000013.11:g.80337413T>G	gnomAD
SPRY2	O43597	p.His100Tyr	rs762358137	missense variant	-	NC_000013.11:g.80337408G>A	ExAC,gnomAD
SPRY2	O43597	p.Arg104Gly	rs776355694	missense variant	-	NC_000013.11:g.80337396G>C	ExAC,gnomAD
SPRY2	O43597	p.Arg104Pro	rs1337608150	missense variant	-	NC_000013.11:g.80337395C>G	TOPMed,gnomAD
SPRY2	O43597	p.Arg104Gln	rs1337608150	missense variant	-	NC_000013.11:g.80337395C>T	TOPMed,gnomAD
SPRY2	O43597	p.Ala105Gly	rs770702443	missense variant	-	NC_000013.11:g.80337392G>C	ExAC,gnomAD
SPRY2	O43597	p.Pro106Thr	rs504122	missense variant	-	NC_000013.11:g.80337390G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro106Arg	rs1401740371	missense variant	-	NC_000013.11:g.80337389G>C	gnomAD
SPRY2	O43597	p.Pro106Ser	rs504122	missense variant	-	NC_000013.11:g.80337390G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro106Ala	rs504122	missense variant	-	NC_000013.11:g.80337390G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg109Ser	rs771519323	missense variant	-	NC_000013.11:g.80337379T>A	ExAC,gnomAD
SPRY2	O43597	p.Ser110Cys	rs748075874	missense variant	-	NC_000013.11:g.80337377G>C	ExAC,gnomAD
SPRY2	O43597	p.Ser112Asn	rs754705712	missense variant	-	NC_000013.11:g.80337371C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser112Thr	rs754705712	missense variant	-	NC_000013.11:g.80337371C>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Thr113Ala	rs61756189	missense variant	-	NC_000013.11:g.80337369T>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser116Leu	rs750696145	missense variant	-	NC_000013.11:g.80337359G>A	ExAC,gnomAD
SPRY2	O43597	p.Gly117Ala	rs1287620323	missense variant	-	NC_000013.11:g.80337356C>G	gnomAD
SPRY2	O43597	p.Ser118Leu	rs867349456	missense variant	-	NC_000013.11:g.80337353G>A	TOPMed,gnomAD
SPRY2	O43597	p.Arg119Pro	rs1315863703	missense variant	-	NC_000013.11:g.80337350C>G	gnomAD
SPRY2	O43597	p.Arg119Trp	RCV000207508	missense variant	IgA nephropathy, susceptibility to, 3 (IGAN3)	NC_000013.11:g.80337351G>A	ClinVar
SPRY2	O43597	p.Arg119Gln	rs1315863703	missense variant	-	NC_000013.11:g.80337350C>T	gnomAD
SPRY2	O43597	p.Arg119Trp	rs869025336	missense variant	-	NC_000013.11:g.80337351G>A	TOPMed,gnomAD
SPRY2	O43597	p.Ser120Gly	rs1363308358	missense variant	-	NC_000013.11:g.80337348T>C	gnomAD
SPRY2	O43597	p.Ser121Thr	rs1269908375	missense variant	-	NC_000013.11:g.80337344C>G	gnomAD
SPRY2	O43597	p.Thr122Met	rs752056670	missense variant	-	NC_000013.11:g.80337341G>A	ExAC,gnomAD
SPRY2	O43597	p.Thr122Ala	rs147789290	missense variant	-	NC_000013.11:g.80337342T>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg123Thr	rs775982350	missense variant	-	NC_000013.11:g.80337338C>G	ExAC,gnomAD
SPRY2	O43597	p.Arg123Trp	rs144291807	missense variant	-	NC_000013.11:g.80337339T>A	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg123Lys	rs775982350	missense variant	-	NC_000013.11:g.80337338C>T	ExAC,gnomAD
SPRY2	O43597	p.Ser127Thr	rs1312541122	missense variant	-	NC_000013.11:g.80337326C>G	gnomAD
SPRY2	O43597	p.Ser127Arg	rs577081286	missense variant	-	NC_000013.11:g.80337325G>T	1000Genomes
SPRY2	O43597	p.Gln133Glu	rs772768746	missense variant	-	NC_000013.11:g.80337309G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Leu136Pro	rs1373899933	missense variant	-	NC_000013.11:g.80337299A>G	TOPMed
SPRY2	O43597	p.Gly137Glu	rs747621224	missense variant	-	NC_000013.11:g.80337296C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser138Ter	rs1330785319	stop gained	-	NC_000013.11:g.80337293G>C	TOPMed,gnomAD
SPRY2	O43597	p.Phe140Ser	rs746584791	missense variant	-	NC_000013.11:g.80337287A>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser141Pro	rs768580715	missense variant	-	NC_000013.11:g.80337285A>G	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ser141Tyr	rs1291535013	missense variant	-	NC_000013.11:g.80337284G>T	TOPMed
SPRY2	O43597	p.Ser142Pro	rs779805758	missense variant	-	NC_000013.11:g.80337282A>G	ExAC,gnomAD
SPRY2	O43597	p.Gly143Arg	rs778275764	missense variant	-	NC_000013.11:g.80337279C>T	TOPMed,gnomAD
SPRY2	O43597	p.Gly143Arg	rs778275764	missense variant	-	NC_000013.11:g.80337279C>G	TOPMed,gnomAD
SPRY2	O43597	p.Val145Phe	rs146602387	missense variant	-	NC_000013.11:g.80337273C>A	1000Genomes
SPRY2	O43597	p.Gly148Ser	rs904292048	missense variant	-	NC_000013.11:g.80337264C>T	TOPMed
SPRY2	O43597	p.Ile149Val	rs367880580	missense variant	-	NC_000013.11:g.80337261T>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Ile150Val	rs1417193005	missense variant	-	NC_000013.11:g.80337258T>C	TOPMed
SPRY2	O43597	p.Arg151Gln	rs1167458110	missense variant	-	NC_000013.11:g.80337254C>T	TOPMed
SPRY2	O43597	p.Arg151Gly	rs770217072	missense variant	-	NC_000013.11:g.80337255G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg151Trp	rs770217072	missense variant	-	NC_000013.11:g.80337255G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Val152Ala	rs35327895	missense variant	-	NC_000013.11:g.80337251A>G	gnomAD
SPRY2	O43597	p.Pro154His	rs1427241781	missense variant	-	NC_000013.11:g.80337245G>T	gnomAD
SPRY2	O43597	p.Lys155Gln	rs764325903	missense variant	-	NC_000013.11:g.80337243T>G	ExAC,gnomAD
SPRY2	O43597	p.Leu158Ile	rs1408015996	missense variant	-	NC_000013.11:g.80337234G>T	TOPMed
SPRY2	O43597	p.Leu163Phe	rs575635189	missense variant	-	NC_000013.11:g.80337219G>A	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Glu169Val	rs1355075892	missense variant	-	NC_000013.11:g.80337200T>A	TOPMed
SPRY2	O43597	p.Leu171Trp	rs1270955592	missense variant	-	NC_000013.11:g.80337194A>C	gnomAD
SPRY2	O43597	p.Gly172Cys	rs765654053	missense variant	-	NC_000013.11:g.80337192C>A	ExAC,gnomAD
SPRY2	O43597	p.Ala175Thr	rs572406337	missense variant	-	NC_000013.11:g.80337183C>T	TOPMed
SPRY2	O43597	p.Tyr176Asn	rs767076954	missense variant	-	NC_000013.11:g.80337180A>T	ExAC,gnomAD
SPRY2	O43597	p.Arg177Ser	rs554006225	missense variant	-	NC_000013.11:g.80337175C>A	gnomAD
SPRY2	O43597	p.Gly182Asp	rs761596736	missense variant	-	NC_000013.11:g.80337161C>T	ExAC,gnomAD
SPRY2	O43597	p.Lys185Arg	rs1324785933	missense variant	-	NC_000013.11:g.80337152T>C	TOPMed,gnomAD
SPRY2	O43597	p.Lys185Thr	rs1324785933	missense variant	-	NC_000013.11:g.80337152T>G	TOPMed,gnomAD
SPRY2	O43597	p.Glu188Gly	rs773723743	missense variant	-	NC_000013.11:g.80337143T>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro194Arg	rs749195415	missense variant	-	NC_000013.11:g.80337125G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro194Leu	rs749195415	missense variant	-	NC_000013.11:g.80337125G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Asp198His	rs769531251	missense variant	-	NC_000013.11:g.80337114C>G	ExAC,gnomAD
SPRY2	O43597	p.Trp199Ser	rs745663741	missense variant	-	NC_000013.11:g.80337110C>G	ExAC,gnomAD
SPRY2	O43597	p.Trp199Ter	rs745663741	stop gained	-	NC_000013.11:g.80337110C>T	ExAC,gnomAD
SPRY2	O43597	p.Asp202Asn	rs771563312	missense variant	-	NC_000013.11:g.80337102C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Lys203Arg	rs747303716	missense variant	-	NC_000013.11:g.80337098T>C	ExAC,gnomAD
SPRY2	O43597	p.Cys205Ser	rs1257428671	missense variant	-	NC_000013.11:g.80337092C>G	TOPMed
SPRY2	O43597	p.Leu206Phe	rs777966595	missense variant	-	NC_000013.11:g.80337090G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Asp214Glu	rs150929865	missense variant	-	NC_000013.11:g.80337064G>C	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Tyr215Cys	rs755298994	missense variant	-	NC_000013.11:g.80337062T>C	ExAC,gnomAD
SPRY2	O43597	p.Val219Ala	rs766828965	missense variant	-	NC_000013.11:g.80337050A>G	ExAC,gnomAD
SPRY2	O43597	p.Gly224Ser	rs751254982	missense variant	-	NC_000013.11:g.80337036C>T	ExAC,gnomAD
SPRY2	O43597	p.Asp233Glu	rs573193459	missense variant	-	NC_000013.11:g.80337007A>C	1000Genomes,ExAC,gnomAD
SPRY2	O43597	p.Asp239Glu	rs1272944733	missense variant	-	NC_000013.11:g.80336989G>C	TOPMed,gnomAD
SPRY2	O43597	p.Asn240Ser	rs775349105	missense variant	-	NC_000013.11:g.80336987T>C	ExAC,gnomAD
SPRY2	O43597	p.Cys242Tyr	rs1171758198	missense variant	-	NC_000013.11:g.80336981C>T	TOPMed
SPRY2	O43597	p.His248Pro	rs1452884347	missense variant	-	NC_000013.11:g.80336963T>G	gnomAD
SPRY2	O43597	p.Trp253Leu	rs1161275655	missense variant	-	NC_000013.11:g.80336948C>A	gnomAD
SPRY2	O43597	p.Met256Leu	rs1335539836	missense variant	-	NC_000013.11:g.80336940T>A	TOPMed
SPRY2	O43597	p.Val258Ile	rs776268097	missense variant	-	NC_000013.11:g.80336934C>T	ExAC,gnomAD
SPRY2	O43597	p.Met259Val	rs1383507887	missense variant	-	NC_000013.11:g.80336931T>C	gnomAD
SPRY2	O43597	p.Leu263Phe	rs1183175721	missense variant	-	NC_000013.11:g.80336917C>G	gnomAD
SPRY2	O43597	p.Cys268Gly	rs770798214	missense variant	-	NC_000013.11:g.80336904A>C	ExAC,gnomAD
SPRY2	O43597	p.Ala272Ser	rs1203763232	missense variant	-	NC_000013.11:g.80336892C>A	gnomAD
SPRY2	O43597	p.Lys273Arg	rs747157293	missense variant	-	NC_000013.11:g.80336888T>C	ExAC,gnomAD
SPRY2	O43597	p.Gly274Cys	rs370842722	missense variant	-	NC_000013.11:g.80336886C>A	ESP,ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Cys275Tyr	rs1244855227	missense variant	-	NC_000013.11:g.80336882C>T	TOPMed,gnomAD
SPRY2	O43597	p.Gly281Glu	rs79066821	missense variant	-	NC_000013.11:g.80336864C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Gly281Val	rs79066821	missense variant	-	NC_000013.11:g.80336864C>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg285Gly	rs748239106	missense variant	-	NC_000013.11:g.80336853G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg285Gln	rs779197678	missense variant	-	NC_000013.11:g.80336852C>T	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg285Trp	rs748239106	missense variant	-	NC_000013.11:g.80336853G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Asn287Lys	rs1384547834	missense variant	-	NC_000013.11:g.80336845G>C	gnomAD
SPRY2	O43597	p.Arg292Cys	rs751166788	missense variant	-	NC_000013.11:g.80336832G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Arg292His	rs1451158201	missense variant	-	NC_000013.11:g.80336831C>T	TOPMed
SPRY2	O43597	p.Cys293Arg	rs1363735546	missense variant	-	NC_000013.11:g.80336829A>G	gnomAD
SPRY2	O43597	p.Asn295His	rs1191449743	missense variant	-	NC_000013.11:g.80336823T>G	TOPMed
SPRY2	O43597	p.Asn295Ser	rs763750552	missense variant	-	NC_000013.11:g.80336822T>C	ExAC
SPRY2	O43597	p.Asn297Tyr	rs1163020327	missense variant	-	NC_000013.11:g.80336817T>A	gnomAD
SPRY2	O43597	p.Thr298Ser	rs1425467478	missense variant	-	NC_000013.11:g.80336814T>A	gnomAD
SPRY2	O43597	p.Val299Ala	rs762383535	missense variant	-	NC_000013.11:g.80336810A>G	ExAC,gnomAD
SPRY2	O43597	p.Cys301Tyr	rs752200065	missense variant	-	NC_000013.11:g.80336804C>T	ExAC,gnomAD
SPRY2	O43597	p.Thr305Ser	rs1262917592	missense variant	-	NC_000013.11:g.80336792G>C	gnomAD
SPRY2	O43597	p.Thr305Asn	rs1262917592	missense variant	-	NC_000013.11:g.80336792G>T	gnomAD
SPRY2	O43597	p.Val306Ile	rs759359294	missense variant	-	NC_000013.11:g.80336790C>T	ExAC,gnomAD
SPRY2	O43597	p.Pro307Thr	rs766036986	missense variant	-	NC_000013.11:g.80336787G>T	ExAC,gnomAD
SPRY2	O43597	p.Pro307Arg	rs760529490	missense variant	-	NC_000013.11:g.80336786G>C	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro307Leu	rs760529490	missense variant	-	NC_000013.11:g.80336786G>A	ExAC,TOPMed,gnomAD
SPRY2	O43597	p.Pro308Ala	rs981467157	missense variant	-	NC_000013.11:g.80336784G>C	TOPMed,gnomAD
SPRY2	O43597	p.Pro308Ser	rs981467157	missense variant	-	NC_000013.11:g.80336784G>A	TOPMed,gnomAD
SPRY2	O43597	p.Glu312Gly	rs748443333	missense variant	-	NC_000013.11:g.80336771T>C	ExAC,gnomAD
SPRY2	O43597	p.Ter316Leu	rs1425368251	stop lost	-	NC_000013.11:g.80336759T>A	gnomAD
SPRY2	O43597	p.Ter316Gln	rs987689192	stop lost	-	NC_000013.11:g.80336760A>G	TOPMed,gnomAD
SPRY1	O43609	p.Asp2Tyr	rs1207370093	missense variant	-	NC_000004.12:g.123401595G>T	gnomAD
SPRY1	O43609	p.Asp2Gly	COSM3825119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123401596A>G	NCI-TCGA Cosmic
SPRY1	O43609	p.Asp2Asn	COSM3599804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123401595G>A	NCI-TCGA Cosmic
SPRY1	O43609	p.Pro3Leu	rs1261698204	missense variant	-	NC_000004.12:g.123401599C>T	gnomAD
SPRY1	O43609	p.Gln4His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401603A>C	NCI-TCGA
SPRY1	O43609	p.Asn5Ser	rs778412478	missense variant	-	NC_000004.12:g.123401605A>G	ExAC,gnomAD
SPRY1	O43609	p.Asn5IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.123401602A>-	NCI-TCGA
SPRY1	O43609	p.Gln6Lys	rs749729525	missense variant	-	NC_000004.12:g.123401607C>A	ExAC,gnomAD
SPRY1	O43609	p.Gln6Glu	rs749729525	missense variant	-	NC_000004.12:g.123401607C>G	ExAC,gnomAD
SPRY1	O43609	p.His7Arg	rs774533854	missense variant	-	NC_000004.12:g.123401611A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His7Tyr	rs905885817	missense variant	-	NC_000004.12:g.123401610C>T	TOPMed
SPRY1	O43609	p.Ser9Gly	rs1251466254	missense variant	-	NC_000004.12:g.123401616A>G	TOPMed
SPRY1	O43609	p.Gly10Asp	rs760438293	missense variant	-	NC_000004.12:g.123401620G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser11Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401623G>T	NCI-TCGA
SPRY1	O43609	p.Ser12Leu	rs535040315	missense variant	-	NC_000004.12:g.123401626C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val15Leu	rs1402871564	missense variant	-	NC_000004.12:g.123401634G>T	gnomAD
SPRY1	O43609	p.Ile16Thr	rs761473092	missense variant	-	NC_000004.12:g.123401638T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile16Met	COSM1426744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123401639C>G	NCI-TCGA Cosmic
SPRY1	O43609	p.Gln17Pro	rs1339659079	missense variant	-	NC_000004.12:g.123401641A>C	gnomAD
SPRY1	O43609	p.Pro19Ala	rs971313977	missense variant	-	NC_000004.12:g.123401646C>G	gnomAD
SPRY1	O43609	p.Ser20Pro	rs766226331	missense variant	-	NC_000004.12:g.123401649T>C	ExAC,gnomAD
SPRY1	O43609	p.Asp22Glu	rs1035810825	missense variant	-	NC_000004.12:g.123401657T>A	TOPMed,gnomAD
SPRY1	O43609	p.Ser23Arg	rs371347844	missense variant	-	NC_000004.12:g.123401660C>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Arg24Cys	rs755205655	missense variant	-	NC_000004.12:g.123401661C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Ser	rs755205655	missense variant	-	NC_000004.12:g.123401661C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Gly	rs755205655	missense variant	-	NC_000004.12:g.123401661C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24His	rs201409774	missense variant	-	NC_000004.12:g.123401662G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg26Thr	rs756227593	missense variant	-	NC_000004.12:g.123401668G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu27Ser	rs1020791706	missense variant	-	NC_000004.12:g.123401671T>C	TOPMed,gnomAD
SPRY1	O43609	p.Asp28Asn	COSM6098943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123401673G>A	NCI-TCGA Cosmic
SPRY1	O43609	p.Tyr29Cys	rs141161959	missense variant	-	NC_000004.12:g.123401677A>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr29Phe	rs141161959	missense variant	-	NC_000004.12:g.123401677A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu30Lys	rs979389180	missense variant	-	NC_000004.12:g.123401679G>A	TOPMed,gnomAD
SPRY1	O43609	p.Arg31Lys	rs757634424	missense variant	-	NC_000004.12:g.123401683G>A	ExAC,gnomAD
SPRY1	O43609	p.Glu32Gln	rs146763160	missense variant	-	NC_000004.12:g.123401685G>C	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Glu32Gly	rs746288824	missense variant	-	NC_000004.12:g.123401686A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile33Val	rs1032412417	missense variant	-	NC_000004.12:g.123401688A>G	TOPMed,gnomAD
SPRY1	O43609	p.Ile33ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.123401678_123401679insGA	NCI-TCGA
SPRY1	O43609	p.Gln34Arg	rs776496321	missense variant	-	NC_000004.12:g.123401692A>G	ExAC
SPRY1	O43609	p.Gln34Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.123401691C>T	NCI-TCGA
SPRY1	O43609	p.Gln34Lys	rs772538327	missense variant	-	NC_000004.12:g.123401691C>A	ExAC,gnomAD
SPRY1	O43609	p.Pro35Ser	rs1437056441	missense variant	-	NC_000004.12:g.123401694C>T	TOPMed
SPRY1	O43609	p.Pro35Leu	rs1393731697	missense variant	-	NC_000004.12:g.123401695C>T	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1173393898	missense variant	-	NC_000004.12:g.123401698C>G	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1309434500	missense variant	-	NC_000004.12:g.123401697A>T	gnomAD
SPRY1	O43609	p.Ala37Thr	rs115106991	missense variant	-	NC_000004.12:g.123401700G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile38Val	rs769362140	missense variant	-	NC_000004.12:g.123401703A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile38Ser	rs772531944	missense variant	-	NC_000004.12:g.123401704T>G	ExAC,gnomAD
SPRY1	O43609	p.Lys45Asn	rs1236068649	missense variant	-	NC_000004.12:g.123401726G>C	gnomAD
SPRY1	O43609	p.Ala46Ser	rs376428204	missense variant	-	NC_000004.12:g.123401727G>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Val	rs759365951	missense variant	-	NC_000004.12:g.123401730A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Leu	rs759365951	missense variant	-	NC_000004.12:g.123401730A>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg48Lys	rs537774102	missense variant	-	NC_000004.12:g.123401734G>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Gly49Ser	rs752972858	missense variant	-	NC_000004.12:g.123401736G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser50Arg	rs557398664	missense variant	-	NC_000004.12:g.123401741C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn51Ser	rs764236200	missense variant	-	NC_000004.12:g.123401743A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu52Gln	rs757800382	missense variant	-	NC_000004.12:g.123401745G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu55Lys	rs181355842	missense variant	-	NC_000004.12:g.123401754G>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro57Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401760C>T	NCI-TCGA
SPRY1	O43609	p.Pro57Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401761C>T	NCI-TCGA
SPRY1	O43609	p.Ser58Leu	rs746376752	missense variant	-	NC_000004.12:g.123401764C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val59Met	rs780510324	missense variant	-	NC_000004.12:g.123401766G>A	ExAC,gnomAD
SPRY1	O43609	p.Val60Leu	rs747809146	missense variant	-	NC_000004.12:g.123401769G>C	ExAC,gnomAD
SPRY1	O43609	p.Pro63Leu	rs147613282	missense variant	-	NC_000004.12:g.123401779C>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro63Ser	rs772802512	missense variant	-	NC_000004.12:g.123401778C>T	ExAC
SPRY1	O43609	p.Ala64Val	rs1402626301	missense variant	-	NC_000004.12:g.123401782C>T	gnomAD
SPRY1	O43609	p.Pro65Ala	rs770444253	missense variant	-	NC_000004.12:g.123401784C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro65Leu	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro65Arg	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>G	TOPMed,gnomAD
SPRY1	O43609	p.Pro65His	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>A	TOPMed,gnomAD
SPRY1	O43609	p.Arg66Trp	rs745654554	missense variant	-	NC_000004.12:g.123401787C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gln	rs140546097	missense variant	-	NC_000004.12:g.123401788G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gly	rs745654554	missense variant	-	NC_000004.12:g.123401787C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ser	rs760985314	missense variant	-	NC_000004.12:g.123401796C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Leu	rs754063951	missense variant	-	NC_000004.12:g.123401797C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ala	rs760985314	missense variant	-	NC_000004.12:g.123401796C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Arg	rs754063951	missense variant	-	NC_000004.12:g.123401797C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg70Lys	rs1252472220	missense variant	-	NC_000004.12:g.123401800G>A	gnomAD
SPRY1	O43609	p.Lys73Gln	rs761868969	missense variant	-	NC_000004.12:g.123401808A>C	ExAC,gnomAD
SPRY1	O43609	p.His74Arg	rs750983063	missense variant	-	NC_000004.12:g.123401812A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His74Asn	rs765397031	missense variant	-	NC_000004.12:g.123401811C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr77Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401821C>T	NCI-TCGA
SPRY1	O43609	p.His78Gln	rs1293612685	missense variant	-	NC_000004.12:g.123401825T>G	gnomAD
SPRY1	O43609	p.Glu79Lys	COSM3917092	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123401826G>A	NCI-TCGA Cosmic
SPRY1	O43609	p.Ile81Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401834A>G	NCI-TCGA
SPRY1	O43609	p.Ile81Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401832A>G	NCI-TCGA
SPRY1	O43609	p.Ile81Thr	rs1333725638	missense variant	-	NC_000004.12:g.123401833T>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro82Ser	rs780598099	missense variant	-	NC_000004.12:g.123401835C>T	ExAC,gnomAD
SPRY1	O43609	p.Ile83Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401838A>T	NCI-TCGA
SPRY1	O43609	p.Ile83Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401840T>G	NCI-TCGA
SPRY1	O43609	p.Ile83Val	rs1231136079	missense variant	-	NC_000004.12:g.123401838A>G	TOPMed,gnomAD
SPRY1	O43609	p.Asn87Asp	rs373671065	missense variant	-	NC_000004.12:g.123401850A>G	ESP,TOPMed
SPRY1	O43609	p.Tyr89His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401856T>C	NCI-TCGA
SPRY1	O43609	p.Tyr89Cys	rs376949828	missense variant	-	NC_000004.12:g.123401857A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu90Asp	rs770404936	missense variant	-	NC_000004.12:g.123401861G>C	ExAC,gnomAD
SPRY1	O43609	p.Glu90Lys	rs1337971722	missense variant	-	NC_000004.12:g.123401859G>A	TOPMed
SPRY1	O43609	p.His91Arg	rs370896287	missense variant	-	NC_000004.12:g.123401863A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Thr94Ile	rs542203833	missense variant	-	NC_000004.12:g.123401872C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr94Lys	rs542203833	missense variant	-	NC_000004.12:g.123401872C>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His96Arg	COSM1426747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123401878A>G	NCI-TCGA Cosmic
SPRY1	O43609	p.Gly98Glu	rs374319181	missense variant	-	NC_000004.12:g.123401884G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala100Glu	rs1251272686	missense variant	-	NC_000004.12:g.123401890C>A	gnomAD
SPRY1	O43609	p.Val101Gly	rs1177711939	missense variant	-	NC_000004.12:g.123401893T>G	TOPMed
SPRY1	O43609	p.Ser104Gly	rs762040198	missense variant	-	NC_000004.12:g.123401901A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala106Val	rs765414706	missense variant	-	NC_000004.12:g.123401908C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala106Asp	rs765414706	missense variant	-	NC_000004.12:g.123401908C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg107Lys	rs1190528580	missense variant	-	NC_000004.12:g.123401911G>A	gnomAD
SPRY1	O43609	p.Arg107Gly	rs1415724393	missense variant	-	NC_000004.12:g.123401910A>G	gnomAD
SPRY1	O43609	p.Arg107Met	COSM6166066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123401911G>T	NCI-TCGA Cosmic
SPRY1	O43609	p.Gly108Val	rs763577838	missense variant	-	NC_000004.12:g.123401914G>T	ExAC,gnomAD
SPRY1	O43609	p.Gly108Arg	rs1421632582	missense variant	-	NC_000004.12:g.123401913G>C	gnomAD
SPRY1	O43609	p.Ile110Val	rs1412044700	missense variant	-	NC_000004.12:g.123401919A>G	gnomAD
SPRY1	O43609	p.Leu111Phe	rs767043237	missense variant	-	NC_000004.12:g.123401924G>C	ExAC,gnomAD
SPRY1	O43609	p.Arg113Lys	rs752075165	missense variant	-	NC_000004.12:g.123401929G>A	ExAC,gnomAD
SPRY1	O43609	p.Arg113Thr	rs752075165	missense variant	-	NC_000004.12:g.123401929G>C	ExAC,gnomAD
SPRY1	O43609	p.Thr115Ser	rs755365213	missense variant	-	NC_000004.12:g.123401934A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr115Ala	rs755365213	missense variant	-	NC_000004.12:g.123401934A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser116Thr	rs1022301262	missense variant	-	NC_000004.12:g.123401938G>C	gnomAD
SPRY1	O43609	p.Ser116Gly	rs753444242	missense variant	-	NC_000004.12:g.123401937A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr117Ser	rs756834122	missense variant	-	NC_000004.12:g.123401940A>T	ExAC,gnomAD
SPRY1	O43609	p.Gly118Val	rs1211384338	missense variant	-	NC_000004.12:g.123401944G>T	TOPMed
SPRY1	O43609	p.Ala120Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123401950C>T	NCI-TCGA
SPRY1	O43609	p.Ser122Asn	rs778423708	missense variant	-	NC_000004.12:g.123401956G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly124Glu	rs745330327	missense variant	-	NC_000004.12:g.123401962G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly124Trp	rs1292973248	missense variant	-	NC_000004.12:g.123401961G>T	TOPMed,gnomAD
SPRY1	O43609	p.Asn126Ser	rs1307932630	missense variant	-	NC_000004.12:g.123401968A>G	-
SPRY1	O43609	p.Ser127Gly	rs757878449	missense variant	-	NC_000004.12:g.123401970A>G	ExAC,gnomAD
SPRY1	O43609	p.Ser128Gly	rs780002408	missense variant	-	NC_000004.12:g.123401973A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala129Val	rs1224884461	missense variant	-	NC_000004.12:g.123401977C>T	TOPMed
SPRY1	O43609	p.Glu132Gln	rs1210748083	missense variant	-	NC_000004.12:g.123401985G>C	gnomAD
SPRY1	O43609	p.Gln133Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.123401988C>T	NCI-TCGA
SPRY1	O43609	p.Leu136Phe	rs368026966	missense variant	-	NC_000004.12:g.123401999A>T	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly137Val	rs748350968	missense variant	-	NC_000004.12:g.123402001G>T	ExAC,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Ter	rs770093430	stop gained	-	NC_000004.12:g.123402007C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Leu	rs770093430	missense variant	-	NC_000004.12:g.123402007C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg143Thr	rs1156252534	missense variant	-	NC_000004.12:g.123402019G>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro144Leu	rs180866016	missense variant	-	NC_000004.12:g.123402022C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro144Ser	rs763166544	missense variant	-	NC_000004.12:g.123402021C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro144Arg	rs180866016	missense variant	-	NC_000004.12:g.123402022C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Thr	rs767775969	missense variant	-	NC_000004.12:g.123402027C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Ala	rs767775969	missense variant	-	NC_000004.12:g.123402027C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Leu	rs756921979	missense variant	-	NC_000004.12:g.123402028C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly147Asp	rs764915721	missense variant	-	NC_000004.12:g.123402031G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Arg	rs750042701	missense variant	-	NC_000004.12:g.123402034A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Leu	rs750042701	missense variant	-	NC_000004.12:g.123402034A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg149Ser	rs779563071	missense variant	-	NC_000004.12:g.123402038G>C	ExAC
SPRY1	O43609	p.Ser150Phe	rs746928184	missense variant	-	NC_000004.12:g.123402040C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala153Thr	rs1467473390	missense variant	-	NC_000004.12:g.123402048G>A	gnomAD
SPRY1	O43609	p.Ile154Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402051A>G	NCI-TCGA
SPRY1	O43609	p.Ile154Phe	rs374766594	missense variant	-	NC_000004.12:g.123402051A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Trp	rs780874264	missense variant	-	NC_000004.12:g.123402054C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gly	rs780874264	missense variant	-	NC_000004.12:g.123402054C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gln	rs769682383	missense variant	-	NC_000004.12:g.123402055G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Pro	rs769682383	missense variant	-	NC_000004.12:g.123402055G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402055G>T	NCI-TCGA
SPRY1	O43609	p.Thr156Ser	rs1306073221	missense variant	-	NC_000004.12:g.123402057A>T	TOPMed
SPRY1	O43609	p.Gln157Ter	rs773636932	stop gained	-	NC_000004.12:g.123402060C>T	ExAC,gnomAD
SPRY1	O43609	p.Gln157Lys	rs773636932	missense variant	-	NC_000004.12:g.123402060C>A	ExAC,gnomAD
SPRY1	O43609	p.Pro158Leu	rs1179227790	missense variant	-	NC_000004.12:g.123402064C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro158Thr	rs143726437	missense variant	-	NC_000004.12:g.123402063C>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Lys159Glu	rs774421542	missense variant	-	NC_000004.12:g.123402066A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile162Met	rs759990917	missense variant	-	NC_000004.12:g.123402077T>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp164Asn	rs143661919	missense variant	-	NC_000004.12:g.123402081G>A	ESP,ExAC,TOPMed
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>A	gnomAD
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>G	gnomAD
SPRY1	O43609	p.Asp165Asn	rs1057124012	missense variant	-	NC_000004.12:g.123402084G>A	TOPMed,gnomAD
SPRY1	O43609	p.Leu166Phe	rs920304696	missense variant	-	NC_000004.12:g.123402089G>C	gnomAD
SPRY1	O43609	p.Gly168Cys	rs764433677	missense variant	-	NC_000004.12:g.123402093G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Ser	rs764433677	missense variant	-	NC_000004.12:g.123402093G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Arg	rs764433677	missense variant	-	NC_000004.12:g.123402093G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu170Phe	COSM3825121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123402101G>C	NCI-TCGA Cosmic
SPRY1	O43609	p.Lys171Arg	rs1313426473	missense variant	-	NC_000004.12:g.123402103A>G	gnomAD
SPRY1	O43609	p.Asp173Gly	rs750092496	missense variant	-	NC_000004.12:g.123402109A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp173Asn	rs1437329042	missense variant	-	NC_000004.12:g.123402108G>A	gnomAD
SPRY1	O43609	p.Leu174Pro	rs1233487324	missense variant	-	NC_000004.12:g.123402112T>C	gnomAD
SPRY1	O43609	p.Thr175Ile	rs1274994954	missense variant	-	NC_000004.12:g.123402115C>T	TOPMed,gnomAD
SPRY1	O43609	p.His177Tyr	rs906180815	missense variant	-	NC_000004.12:g.123402120C>T	-
SPRY1	O43609	p.His177Pro	rs369944717	missense variant	-	NC_000004.12:g.123402121A>C	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His177Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402120C>G	NCI-TCGA
SPRY1	O43609	p.His177Gln	rs1271914621	missense variant	-	NC_000004.12:g.123402122C>G	gnomAD
SPRY1	O43609	p.Lys178Arg	rs754426228	missense variant	-	NC_000004.12:g.123402124A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys178Asn	rs781231015	missense variant	-	NC_000004.12:g.123402125G>C	ExAC,gnomAD
SPRY1	O43609	p.Phe179Leu	rs1250628278	missense variant	-	NC_000004.12:g.123402128C>G	gnomAD
SPRY1	O43609	p.Phe179Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402126T>G	NCI-TCGA
SPRY1	O43609	p.Cys181Trp	rs1453055762	missense variant	-	NC_000004.12:g.123402134T>G	gnomAD
SPRY1	O43609	p.Gln183His	rs1391165635	missense variant	-	NC_000004.12:g.123402140G>C	gnomAD
SPRY1	O43609	p.Gln183Ter	rs752678914	stop gained	-	NC_000004.12:g.123402138C>T	ExAC,gnomAD
SPRY1	O43609	p.Gly185Arg	rs756030670	missense variant	-	NC_000004.12:g.123402144G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly185Glu	rs902343752	missense variant	-	NC_000004.12:g.123402145G>A	TOPMed,gnomAD
SPRY1	O43609	p.Lys186Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402148A>G	NCI-TCGA
SPRY1	O43609	p.Cys187Phe	rs1395990676	missense variant	-	NC_000004.12:g.123402151G>T	gnomAD
SPRY1	O43609	p.Lys188Thr	rs201051198	missense variant	-	NC_000004.12:g.123402154A>C	TOPMed,gnomAD
SPRY1	O43609	p.Lys188Asn	rs760600305	missense variant	-	NC_000004.12:g.123402155G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys188Arg	rs201051198	missense variant	-	NC_000004.12:g.123402154A>G	TOPMed,gnomAD
SPRY1	O43609	p.Lys188Gln	rs369289367	missense variant	-	NC_000004.12:g.123402153A>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly190Arg	rs1440072165	missense variant	-	NC_000004.12:g.123402159G>A	gnomAD
SPRY1	O43609	p.Gly190Glu	rs771143455	missense variant	-	NC_000004.12:g.123402160G>A	ExAC,gnomAD
SPRY1	O43609	p.Glu191Ala	rs1053558732	missense variant	-	NC_000004.12:g.123402163A>C	TOPMed
SPRY1	O43609	p.Glu191Ter	COSM3825122	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.123402162G>T	NCI-TCGA Cosmic
SPRY1	O43609	p.Thr193Ile	rs1225022544	missense variant	-	NC_000004.12:g.123402169C>T	TOPMed,gnomAD
SPRY1	O43609	p.Thr193Ala	rs1359961735	missense variant	-	NC_000004.12:g.123402168A>G	TOPMed
SPRY1	O43609	p.Thr193Asn	COSM1328704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123402169C>A	NCI-TCGA Cosmic
SPRY1	O43609	p.Ala194Val	rs889670911	missense variant	-	NC_000004.12:g.123402172C>T	TOPMed,gnomAD
SPRY1	O43609	p.Ala194Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402171G>T	NCI-TCGA
SPRY1	O43609	p.Pro195Leu	rs772009773	missense variant	-	NC_000004.12:g.123402175C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu198Pro	COSM3825123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123402184T>C	NCI-TCGA Cosmic
SPRY1	O43609	p.Ser200Thr	rs769018060	missense variant	-	NC_000004.12:g.123402189T>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys201LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.123402193_123402200GTTTGGCC>-	NCI-TCGA
SPRY1	O43609	p.Leu202Ter	rs376045682	stop gained	-	NC_000004.12:g.123402196T>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Leu202Val	rs768635986	missense variant	-	NC_000004.12:g.123402195T>G	gnomAD
SPRY1	O43609	p.Leu202Phe	rs766105212	missense variant	-	NC_000004.12:g.123402197G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu202Ser	rs376045682	missense variant	-	NC_000004.12:g.123402196T>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Cys204Tyr	rs151050902	missense variant	-	NC_000004.12:g.123402202G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Asn205His	rs759152061	missense variant	-	NC_000004.12:g.123402204A>C	ExAC,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg206Gln	rs752693554	missense variant	-	NC_000004.12:g.123402208G>A	ExAC,gnomAD
SPRY1	O43609	p.Arg206Trp	rs1461030673	missense variant	-	NC_000004.12:g.123402207C>T	gnomAD
SPRY1	O43609	p.Cys208Tyr	rs1244091949	missense variant	-	NC_000004.12:g.123402214G>A	gnomAD
SPRY1	O43609	p.Leu209Phe	rs1390698144	missense variant	-	NC_000004.12:g.123402216C>T	TOPMed,gnomAD
SPRY1	O43609	p.Cys210Phe	rs1188023727	missense variant	-	NC_000004.12:g.123402220G>T	TOPMed
SPRY1	O43609	p.Ser211Cys	rs1475845838	missense variant	-	NC_000004.12:g.123402223C>G	TOPMed
SPRY1	O43609	p.Ser211Ala	rs140988860	missense variant	-	NC_000004.12:g.123402222T>G	ESP
SPRY1	O43609	p.Ser214Cys	rs1380483994	missense variant	-	NC_000004.12:g.123402231A>T	TOPMed,gnomAD
SPRY1	O43609	p.Met215Val	rs756048915	missense variant	-	NC_000004.12:g.123402234A>G	ExAC,gnomAD
SPRY1	O43609	p.Glu217Lys	rs1252185076	missense variant	-	NC_000004.12:g.123402240G>A	TOPMed
SPRY1	O43609	p.Cys221Tyr	rs777739648	missense variant	-	NC_000004.12:g.123402253G>A	ExAC,gnomAD
SPRY1	O43609	p.Cys223Trp	COSM4850874	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123402260C>G	NCI-TCGA Cosmic
SPRY1	O43609	p.Ile228Met	rs145077253	missense variant	-	NC_000004.12:g.123402275C>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Phe229Leu	rs1305972600	missense variant	-	NC_000004.12:g.123402278C>G	TOPMed
SPRY1	O43609	p.Ser233Pro	rs779233192	missense variant	-	NC_000004.12:g.123402288T>C	ExAC,gnomAD
SPRY1	O43609	p.Asn234Asp	rs746069665	missense variant	-	NC_000004.12:g.123402291A>G	ExAC,gnomAD
SPRY1	O43609	p.Asn234Ser	rs772249078	missense variant	-	NC_000004.12:g.123402292A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp235Gly	rs780045221	missense variant	-	NC_000004.12:g.123402295A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp235Asn	COSM4819905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123402294G>A	NCI-TCGA Cosmic
SPRY1	O43609	p.Asp236Tyr	rs1190299190	missense variant	-	NC_000004.12:g.123402297G>T	gnomAD
SPRY1	O43609	p.Asp236Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402297G>A	NCI-TCGA
SPRY1	O43609	p.Glu237Lys	rs142173292	missense variant	-	NC_000004.12:g.123402300G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly238Arg	rs777102609	missense variant	-	NC_000004.12:g.123402303G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr241Cys	rs762280661	missense variant	-	NC_000004.12:g.123402313A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp243Ala	rs1451455343	missense variant	-	NC_000004.12:g.123402319A>C	gnomAD
SPRY1	O43609	p.Asn244Lys	rs774111531	missense variant	-	NC_000004.12:g.123402323T>G	ExAC,gnomAD
SPRY1	O43609	p.Pro245Leu	rs866445691	missense variant	-	NC_000004.12:g.123402325C>T	TOPMed
SPRY1	O43609	p.Pro245Ser	COSM3599806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123402324C>T	NCI-TCGA Cosmic
SPRY1	O43609	p.Ser247Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402331C>T	NCI-TCGA
SPRY1	O43609	p.Ser247Cys	rs1299652485	missense variant	-	NC_000004.12:g.123402331C>G	TOPMed
SPRY1	O43609	p.Cys248Arg	rs752212870	missense variant	-	NC_000004.12:g.123402333T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser249Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402337C>T	NCI-TCGA
SPRY1	O43609	p.His252Tyr	rs753793837	missense variant	-	NC_000004.12:g.123402345C>T	ExAC,gnomAD
SPRY1	O43609	p.Cys254Ter	rs750666163	stop gained	-	NC_000004.12:g.123402353C>A	ExAC,gnomAD
SPRY1	O43609	p.Cys254Tyr	rs764924905	missense variant	-	NC_000004.12:g.123402352G>A	ExAC,gnomAD
SPRY1	O43609	p.Cys254Trp	rs750666163	missense variant	-	NC_000004.12:g.123402353C>G	ExAC,gnomAD
SPRY1	O43609	p.Ser255Phe	rs374261636	missense variant	-	NC_000004.12:g.123402355C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser255Cys	rs374261636	missense variant	-	NC_000004.12:g.123402355C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg256Thr	rs755021441	missense variant	-	NC_000004.12:g.123402358G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr257Cys	rs1485436325	missense variant	-	NC_000004.12:g.123402361A>G	gnomAD
SPRY1	O43609	p.Gly261Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402373G>A	NCI-TCGA
SPRY1	O43609	p.Gly261Val	rs781715595	missense variant	-	NC_000004.12:g.123402373G>T	ExAC,gnomAD
SPRY1	O43609	p.Ala262Val	rs770209344	missense variant	-	NC_000004.12:g.123402376C>T	ExAC,gnomAD
SPRY1	O43609	p.Met263Val	rs773382084	missense variant	-	NC_000004.12:g.123402378A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Met263Ile	rs1436527566	missense variant	-	NC_000004.12:g.123402380G>A	gnomAD
SPRY1	O43609	p.Ser264Phe	rs745565941	missense variant	-	NC_000004.12:g.123402382C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys269Trp	rs775260056	missense variant	-	NC_000004.12:g.123402398C>G	ExAC,gnomAD
SPRY1	O43609	p.Leu271Phe	rs1179286977	missense variant	-	NC_000004.12:g.123402402C>T	TOPMed
SPRY1	O43609	p.Pro274Leu	rs760299005	missense variant	-	NC_000004.12:g.123402412C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro274Ser	rs961876940	missense variant	-	NC_000004.12:g.123402411C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro274Arg	rs760299005	missense variant	-	NC_000004.12:g.123402412C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro275Ser	rs776763816	missense variant	-	NC_000004.12:g.123402414C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro275Leu	rs200878762	missense variant	-	NC_000004.12:g.123402415C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys277Glu	rs368008252	missense variant	-	NC_000004.12:g.123402420A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly278Arg	rs1301625850	missense variant	-	NC_000004.12:g.123402423G>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys279Ser	rs750140832	missense variant	-	NC_000004.12:g.123402427G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys279Tyr	rs750140832	missense variant	-	NC_000004.12:g.123402427G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu282Met	rs1374752156	missense variant	-	NC_000004.12:g.123402435C>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys283Phe	rs751778456	missense variant	-	NC_000004.12:g.123402439G>T	ExAC
SPRY1	O43609	p.Cys283Arg	rs766629767	missense variant	-	NC_000004.12:g.123402438T>C	ExAC,gnomAD
SPRY1	O43609	p.Cys286Ser	rs1268162395	missense variant	-	NC_000004.12:g.123402448G>C	TOPMed,gnomAD
SPRY1	O43609	p.Cys286Arg	rs1389497430	missense variant	-	NC_000004.12:g.123402447T>C	TOPMed
SPRY1	O43609	p.Tyr287Ter	rs370375351	stop gained	-	NC_000004.12:g.123402452T>A	ESP,TOPMed
SPRY1	O43609	p.His291Leu	rs1191742583	missense variant	-	NC_000004.12:g.123402463A>T	gnomAD
SPRY1	O43609	p.His291Tyr	rs1442570144	missense variant	-	NC_000004.12:g.123402462C>T	TOPMed
SPRY1	O43609	p.Arg292His	rs748693044	missense variant	-	NC_000004.12:g.123402466G>A	ExAC,gnomAD
SPRY1	O43609	p.Arg292Cys	COSM1485648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.123402465C>T	NCI-TCGA Cosmic
SPRY1	O43609	p.Gly294Arg	rs1449897196	missense variant	-	NC_000004.12:g.123402471G>C	gnomAD
SPRY1	O43609	p.Arg296Lys	rs187259850	missense variant	-	NC_000004.12:g.123402478G>A	1000Genomes
SPRY1	O43609	p.Asn301Ser	rs756537678	missense variant	-	NC_000004.12:g.123402493A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr302Ala	rs367610616	missense variant	-	NC_000004.12:g.123402495A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr304His	rs1301960824	missense variant	-	NC_000004.12:g.123402501T>C	TOPMed,gnomAD
SPRY1	O43609	p.Tyr304Cys	rs1370688324	missense variant	-	NC_000004.12:g.123402502A>G	gnomAD
SPRY1	O43609	p.Cys305Phe	rs771387469	missense variant	-	NC_000004.12:g.123402505G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys305Ter	rs775346634	stop gained	-	NC_000004.12:g.123402506T>A	ExAC
SPRY1	O43609	p.Lys306Ter	rs746642537	stop gained	-	NC_000004.12:g.123402507A>T	ExAC
SPRY1	O43609	p.Leu307Pro	rs1298215244	missense variant	-	NC_000004.12:g.123402511T>C	gnomAD
SPRY1	O43609	p.Glu308Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402513G>A	NCI-TCGA
SPRY1	O43609	p.Ser309Asn	rs768290759	missense variant	-	NC_000004.12:g.123402517G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser309Arg	rs1226970500	missense variant	-	NC_000004.12:g.123402518C>A	gnomAD
SPRY1	O43609	p.Cys310Trp	rs775967448	missense variant	-	NC_000004.12:g.123402521C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro311Ser	rs761837505	missense variant	-	NC_000004.12:g.123402522C>T	ExAC,gnomAD
SPRY1	O43609	p.Ser312Phe	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>T	TOPMed,gnomAD
SPRY1	O43609	p.Ser312Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.123402525T>C	NCI-TCGA
SPRY1	O43609	p.Ser312Cys	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>G	TOPMed,gnomAD
SPRY1	O43609	p.Arg313Gln	rs773173631	missense variant	-	NC_000004.12:g.123402529G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg313Trp	rs765138425	missense variant	-	NC_000004.12:g.123402528C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln315Arg	rs766150666	missense variant	-	NC_000004.12:g.123402535A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln315Ter	rs762804313	stop gained	-	NC_000004.12:g.123402534C>T	ExAC,gnomAD
SPRY1	O43609	p.Ser319Ter	rs751794748	stop gained	-	NC_000004.12:g.123402547C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ter320Trp	rs528974183	stop lost	-	NC_000004.12:g.123402551A>G	1000Genomes
SPRY1	O43609	p.Asp2Tyr	rs1207370093	missense variant	-	NC_000004.12:g.123401595G>T	gnomAD
SPRY1	O43609	p.Pro3Leu	rs1261698204	missense variant	-	NC_000004.12:g.123401599C>T	gnomAD
SPRY1	O43609	p.Asn5Ser	rs778412478	missense variant	-	NC_000004.12:g.123401605A>G	ExAC,gnomAD
SPRY1	O43609	p.Gln6Lys	rs749729525	missense variant	-	NC_000004.12:g.123401607C>A	ExAC,gnomAD
SPRY1	O43609	p.Gln6Glu	rs749729525	missense variant	-	NC_000004.12:g.123401607C>G	ExAC,gnomAD
SPRY1	O43609	p.His7Arg	rs774533854	missense variant	-	NC_000004.12:g.123401611A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His7Tyr	rs905885817	missense variant	-	NC_000004.12:g.123401610C>T	TOPMed
SPRY1	O43609	p.Ser9Gly	rs1251466254	missense variant	-	NC_000004.12:g.123401616A>G	TOPMed
SPRY1	O43609	p.Gly10Asp	rs760438293	missense variant	-	NC_000004.12:g.123401620G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser12Leu	rs535040315	missense variant	-	NC_000004.12:g.123401626C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val15Leu	rs1402871564	missense variant	-	NC_000004.12:g.123401634G>T	gnomAD
SPRY1	O43609	p.Ile16Thr	rs761473092	missense variant	-	NC_000004.12:g.123401638T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln17Pro	rs1339659079	missense variant	-	NC_000004.12:g.123401641A>C	gnomAD
SPRY1	O43609	p.Pro19Ala	rs971313977	missense variant	-	NC_000004.12:g.123401646C>G	gnomAD
SPRY1	O43609	p.Ser20Pro	rs766226331	missense variant	-	NC_000004.12:g.123401649T>C	ExAC,gnomAD
SPRY1	O43609	p.Asp22Glu	rs1035810825	missense variant	-	NC_000004.12:g.123401657T>A	TOPMed,gnomAD
SPRY1	O43609	p.Ser23Arg	rs371347844	missense variant	-	NC_000004.12:g.123401660C>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Arg24Ser	rs755205655	missense variant	-	NC_000004.12:g.123401661C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Cys	rs755205655	missense variant	-	NC_000004.12:g.123401661C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Gly	rs755205655	missense variant	-	NC_000004.12:g.123401661C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24His	rs201409774	missense variant	-	NC_000004.12:g.123401662G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg26Thr	rs756227593	missense variant	-	NC_000004.12:g.123401668G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu27Ser	rs1020791706	missense variant	-	NC_000004.12:g.123401671T>C	TOPMed,gnomAD
SPRY1	O43609	p.Tyr29Cys	rs141161959	missense variant	-	NC_000004.12:g.123401677A>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr29Phe	rs141161959	missense variant	-	NC_000004.12:g.123401677A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu30Lys	rs979389180	missense variant	-	NC_000004.12:g.123401679G>A	TOPMed,gnomAD
SPRY1	O43609	p.Arg31Lys	rs757634424	missense variant	-	NC_000004.12:g.123401683G>A	ExAC,gnomAD
SPRY1	O43609	p.Glu32Gln	rs146763160	missense variant	-	NC_000004.12:g.123401685G>C	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Glu32Gly	rs746288824	missense variant	-	NC_000004.12:g.123401686A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile33Val	rs1032412417	missense variant	-	NC_000004.12:g.123401688A>G	TOPMed,gnomAD
SPRY1	O43609	p.Gln34Arg	rs776496321	missense variant	-	NC_000004.12:g.123401692A>G	ExAC
SPRY1	O43609	p.Gln34Lys	rs772538327	missense variant	-	NC_000004.12:g.123401691C>A	ExAC,gnomAD
SPRY1	O43609	p.Pro35Ser	rs1437056441	missense variant	-	NC_000004.12:g.123401694C>T	TOPMed
SPRY1	O43609	p.Pro35Leu	rs1393731697	missense variant	-	NC_000004.12:g.123401695C>T	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1173393898	missense variant	-	NC_000004.12:g.123401698C>G	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1309434500	missense variant	-	NC_000004.12:g.123401697A>T	gnomAD
SPRY1	O43609	p.Ala37Thr	rs115106991	missense variant	-	NC_000004.12:g.123401700G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile38Val	rs769362140	missense variant	-	NC_000004.12:g.123401703A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile38Ser	rs772531944	missense variant	-	NC_000004.12:g.123401704T>G	ExAC,gnomAD
SPRY1	O43609	p.Lys45Asn	rs1236068649	missense variant	-	NC_000004.12:g.123401726G>C	gnomAD
SPRY1	O43609	p.Ala46Ser	rs376428204	missense variant	-	NC_000004.12:g.123401727G>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Val	rs759365951	missense variant	-	NC_000004.12:g.123401730A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Leu	rs759365951	missense variant	-	NC_000004.12:g.123401730A>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg48Lys	rs537774102	missense variant	-	NC_000004.12:g.123401734G>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Gly49Ser	rs752972858	missense variant	-	NC_000004.12:g.123401736G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser50Arg	rs557398664	missense variant	-	NC_000004.12:g.123401741C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn51Ser	rs764236200	missense variant	-	NC_000004.12:g.123401743A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu52Gln	rs757800382	missense variant	-	NC_000004.12:g.123401745G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu55Lys	rs181355842	missense variant	-	NC_000004.12:g.123401754G>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser58Leu	rs746376752	missense variant	-	NC_000004.12:g.123401764C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val59Met	rs780510324	missense variant	-	NC_000004.12:g.123401766G>A	ExAC,gnomAD
SPRY1	O43609	p.Val60Leu	rs747809146	missense variant	-	NC_000004.12:g.123401769G>C	ExAC,gnomAD
SPRY1	O43609	p.Pro63Leu	rs147613282	missense variant	-	NC_000004.12:g.123401779C>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro63Ser	rs772802512	missense variant	-	NC_000004.12:g.123401778C>T	ExAC
SPRY1	O43609	p.Ala64Val	rs1402626301	missense variant	-	NC_000004.12:g.123401782C>T	gnomAD
SPRY1	O43609	p.Pro65Leu	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro65Ala	rs770444253	missense variant	-	NC_000004.12:g.123401784C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro65Arg	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>G	TOPMed,gnomAD
SPRY1	O43609	p.Pro65His	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>A	TOPMed,gnomAD
SPRY1	O43609	p.Arg66Trp	rs745654554	missense variant	-	NC_000004.12:g.123401787C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gly	rs745654554	missense variant	-	NC_000004.12:g.123401787C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gln	rs140546097	missense variant	-	NC_000004.12:g.123401788G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ser	rs760985314	missense variant	-	NC_000004.12:g.123401796C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Leu	rs754063951	missense variant	-	NC_000004.12:g.123401797C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Arg	rs754063951	missense variant	-	NC_000004.12:g.123401797C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ala	rs760985314	missense variant	-	NC_000004.12:g.123401796C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg70Lys	rs1252472220	missense variant	-	NC_000004.12:g.123401800G>A	gnomAD
SPRY1	O43609	p.Lys73Gln	rs761868969	missense variant	-	NC_000004.12:g.123401808A>C	ExAC,gnomAD
SPRY1	O43609	p.His74Arg	rs750983063	missense variant	-	NC_000004.12:g.123401812A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His74Asn	rs765397031	missense variant	-	NC_000004.12:g.123401811C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His78Gln	rs1293612685	missense variant	-	NC_000004.12:g.123401825T>G	gnomAD
SPRY1	O43609	p.Ile81Thr	rs1333725638	missense variant	-	NC_000004.12:g.123401833T>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro82Ser	rs780598099	missense variant	-	NC_000004.12:g.123401835C>T	ExAC,gnomAD
SPRY1	O43609	p.Ile83Val	rs1231136079	missense variant	-	NC_000004.12:g.123401838A>G	TOPMed,gnomAD
SPRY1	O43609	p.Asn87Asp	rs373671065	missense variant	-	NC_000004.12:g.123401850A>G	ESP,TOPMed
SPRY1	O43609	p.Tyr89Cys	rs376949828	missense variant	-	NC_000004.12:g.123401857A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu90Asp	rs770404936	missense variant	-	NC_000004.12:g.123401861G>C	ExAC,gnomAD
SPRY1	O43609	p.Glu90Lys	rs1337971722	missense variant	-	NC_000004.12:g.123401859G>A	TOPMed
SPRY1	O43609	p.His91Arg	rs370896287	missense variant	-	NC_000004.12:g.123401863A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Thr94Ile	rs542203833	missense variant	-	NC_000004.12:g.123401872C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr94Lys	rs542203833	missense variant	-	NC_000004.12:g.123401872C>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly98Glu	rs374319181	missense variant	-	NC_000004.12:g.123401884G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala100Glu	rs1251272686	missense variant	-	NC_000004.12:g.123401890C>A	gnomAD
SPRY1	O43609	p.Val101Gly	rs1177711939	missense variant	-	NC_000004.12:g.123401893T>G	TOPMed
SPRY1	O43609	p.Ser104Gly	rs762040198	missense variant	-	NC_000004.12:g.123401901A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala106Val	rs765414706	missense variant	-	NC_000004.12:g.123401908C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala106Asp	rs765414706	missense variant	-	NC_000004.12:g.123401908C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg107Lys	rs1190528580	missense variant	-	NC_000004.12:g.123401911G>A	gnomAD
SPRY1	O43609	p.Arg107Gly	rs1415724393	missense variant	-	NC_000004.12:g.123401910A>G	gnomAD
SPRY1	O43609	p.Gly108Val	rs763577838	missense variant	-	NC_000004.12:g.123401914G>T	ExAC,gnomAD
SPRY1	O43609	p.Gly108Arg	rs1421632582	missense variant	-	NC_000004.12:g.123401913G>C	gnomAD
SPRY1	O43609	p.Ile110Val	rs1412044700	missense variant	-	NC_000004.12:g.123401919A>G	gnomAD
SPRY1	O43609	p.Leu111Phe	rs767043237	missense variant	-	NC_000004.12:g.123401924G>C	ExAC,gnomAD
SPRY1	O43609	p.Arg113Lys	rs752075165	missense variant	-	NC_000004.12:g.123401929G>A	ExAC,gnomAD
SPRY1	O43609	p.Arg113Thr	rs752075165	missense variant	-	NC_000004.12:g.123401929G>C	ExAC,gnomAD
SPRY1	O43609	p.Thr115Ser	rs755365213	missense variant	-	NC_000004.12:g.123401934A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr115Ala	rs755365213	missense variant	-	NC_000004.12:g.123401934A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser116Thr	rs1022301262	missense variant	-	NC_000004.12:g.123401938G>C	gnomAD
SPRY1	O43609	p.Ser116Gly	rs753444242	missense variant	-	NC_000004.12:g.123401937A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr117Ser	rs756834122	missense variant	-	NC_000004.12:g.123401940A>T	ExAC,gnomAD
SPRY1	O43609	p.Gly118Val	rs1211384338	missense variant	-	NC_000004.12:g.123401944G>T	TOPMed
SPRY1	O43609	p.Ser122Asn	rs778423708	missense variant	-	NC_000004.12:g.123401956G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly124Glu	rs745330327	missense variant	-	NC_000004.12:g.123401962G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly124Trp	rs1292973248	missense variant	-	NC_000004.12:g.123401961G>T	TOPMed,gnomAD
SPRY1	O43609	p.Asn126Ser	rs1307932630	missense variant	-	NC_000004.12:g.123401968A>G	-
SPRY1	O43609	p.Ser127Gly	rs757878449	missense variant	-	NC_000004.12:g.123401970A>G	ExAC,gnomAD
SPRY1	O43609	p.Ser128Gly	rs780002408	missense variant	-	NC_000004.12:g.123401973A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala129Val	rs1224884461	missense variant	-	NC_000004.12:g.123401977C>T	TOPMed
SPRY1	O43609	p.Glu132Gln	rs1210748083	missense variant	-	NC_000004.12:g.123401985G>C	gnomAD
SPRY1	O43609	p.Leu136Phe	rs368026966	missense variant	-	NC_000004.12:g.123401999A>T	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly137Val	rs748350968	missense variant	-	NC_000004.12:g.123402001G>T	ExAC,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Ter	rs770093430	stop gained	-	NC_000004.12:g.123402007C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Leu	rs770093430	missense variant	-	NC_000004.12:g.123402007C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg143Thr	rs1156252534	missense variant	-	NC_000004.12:g.123402019G>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro144Leu	rs180866016	missense variant	-	NC_000004.12:g.123402022C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro144Ser	rs763166544	missense variant	-	NC_000004.12:g.123402021C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro144Arg	rs180866016	missense variant	-	NC_000004.12:g.123402022C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Thr	rs767775969	missense variant	-	NC_000004.12:g.123402027C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Ala	rs767775969	missense variant	-	NC_000004.12:g.123402027C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Leu	rs756921979	missense variant	-	NC_000004.12:g.123402028C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly147Asp	rs764915721	missense variant	-	NC_000004.12:g.123402031G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Arg	rs750042701	missense variant	-	NC_000004.12:g.123402034A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Leu	rs750042701	missense variant	-	NC_000004.12:g.123402034A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg149Ser	rs779563071	missense variant	-	NC_000004.12:g.123402038G>C	ExAC
SPRY1	O43609	p.Ser150Phe	rs746928184	missense variant	-	NC_000004.12:g.123402040C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala153Thr	rs1467473390	missense variant	-	NC_000004.12:g.123402048G>A	gnomAD
SPRY1	O43609	p.Ile154Phe	rs374766594	missense variant	-	NC_000004.12:g.123402051A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Pro	rs769682383	missense variant	-	NC_000004.12:g.123402055G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Trp	rs780874264	missense variant	-	NC_000004.12:g.123402054C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gly	rs780874264	missense variant	-	NC_000004.12:g.123402054C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gln	rs769682383	missense variant	-	NC_000004.12:g.123402055G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr156Ser	rs1306073221	missense variant	-	NC_000004.12:g.123402057A>T	TOPMed
SPRY1	O43609	p.Gln157Lys	rs773636932	missense variant	-	NC_000004.12:g.123402060C>A	ExAC,gnomAD
SPRY1	O43609	p.Gln157Ter	rs773636932	stop gained	-	NC_000004.12:g.123402060C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro158Leu	rs1179227790	missense variant	-	NC_000004.12:g.123402064C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro158Thr	rs143726437	missense variant	-	NC_000004.12:g.123402063C>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Lys159Glu	rs774421542	missense variant	-	NC_000004.12:g.123402066A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile162Met	rs759990917	missense variant	-	NC_000004.12:g.123402077T>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp164Asn	rs143661919	missense variant	-	NC_000004.12:g.123402081G>A	ESP,ExAC,TOPMed
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>A	gnomAD
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>G	gnomAD
SPRY1	O43609	p.Asp165Asn	rs1057124012	missense variant	-	NC_000004.12:g.123402084G>A	TOPMed,gnomAD
SPRY1	O43609	p.Leu166Phe	rs920304696	missense variant	-	NC_000004.12:g.123402089G>C	gnomAD
SPRY1	O43609	p.Gly168Ser	rs764433677	missense variant	-	NC_000004.12:g.123402093G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Cys	rs764433677	missense variant	-	NC_000004.12:g.123402093G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Arg	rs764433677	missense variant	-	NC_000004.12:g.123402093G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys171Arg	rs1313426473	missense variant	-	NC_000004.12:g.123402103A>G	gnomAD
SPRY1	O43609	p.Asp173Gly	rs750092496	missense variant	-	NC_000004.12:g.123402109A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp173Asn	rs1437329042	missense variant	-	NC_000004.12:g.123402108G>A	gnomAD
SPRY1	O43609	p.Leu174Pro	rs1233487324	missense variant	-	NC_000004.12:g.123402112T>C	gnomAD
SPRY1	O43609	p.Thr175Ile	rs1274994954	missense variant	-	NC_000004.12:g.123402115C>T	TOPMed,gnomAD
SPRY1	O43609	p.His177Tyr	rs906180815	missense variant	-	NC_000004.12:g.123402120C>T	-
SPRY1	O43609	p.His177Pro	rs369944717	missense variant	-	NC_000004.12:g.123402121A>C	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His177Gln	rs1271914621	missense variant	-	NC_000004.12:g.123402122C>G	gnomAD
SPRY1	O43609	p.Lys178Asn	rs781231015	missense variant	-	NC_000004.12:g.123402125G>C	ExAC,gnomAD
SPRY1	O43609	p.Lys178Arg	rs754426228	missense variant	-	NC_000004.12:g.123402124A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Phe179Leu	rs1250628278	missense variant	-	NC_000004.12:g.123402128C>G	gnomAD
SPRY1	O43609	p.Cys181Trp	rs1453055762	missense variant	-	NC_000004.12:g.123402134T>G	gnomAD
SPRY1	O43609	p.Gln183His	rs1391165635	missense variant	-	NC_000004.12:g.123402140G>C	gnomAD
SPRY1	O43609	p.Gln183Ter	rs752678914	stop gained	-	NC_000004.12:g.123402138C>T	ExAC,gnomAD
SPRY1	O43609	p.Gly185Arg	rs756030670	missense variant	-	NC_000004.12:g.123402144G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly185Glu	rs902343752	missense variant	-	NC_000004.12:g.123402145G>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys187Phe	rs1395990676	missense variant	-	NC_000004.12:g.123402151G>T	gnomAD
SPRY1	O43609	p.Lys188Thr	rs201051198	missense variant	-	NC_000004.12:g.123402154A>C	TOPMed,gnomAD
SPRY1	O43609	p.Lys188Asn	rs760600305	missense variant	-	NC_000004.12:g.123402155G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys188Arg	rs201051198	missense variant	-	NC_000004.12:g.123402154A>G	TOPMed,gnomAD
SPRY1	O43609	p.Lys188Gln	rs369289367	missense variant	-	NC_000004.12:g.123402153A>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly190Arg	rs1440072165	missense variant	-	NC_000004.12:g.123402159G>A	gnomAD
SPRY1	O43609	p.Gly190Glu	rs771143455	missense variant	-	NC_000004.12:g.123402160G>A	ExAC,gnomAD
SPRY1	O43609	p.Glu191Ala	rs1053558732	missense variant	-	NC_000004.12:g.123402163A>C	TOPMed
SPRY1	O43609	p.Thr193Ile	rs1225022544	missense variant	-	NC_000004.12:g.123402169C>T	TOPMed,gnomAD
SPRY1	O43609	p.Thr193Ala	rs1359961735	missense variant	-	NC_000004.12:g.123402168A>G	TOPMed
SPRY1	O43609	p.Ala194Val	rs889670911	missense variant	-	NC_000004.12:g.123402172C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro195Leu	rs772009773	missense variant	-	NC_000004.12:g.123402175C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser200Thr	rs769018060	missense variant	-	NC_000004.12:g.123402189T>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu202Ter	rs376045682	stop gained	-	NC_000004.12:g.123402196T>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Leu202Val	rs768635986	missense variant	-	NC_000004.12:g.123402195T>G	gnomAD
SPRY1	O43609	p.Leu202Phe	rs766105212	missense variant	-	NC_000004.12:g.123402197G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu202Ser	rs376045682	missense variant	-	NC_000004.12:g.123402196T>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Cys204Tyr	rs151050902	missense variant	-	NC_000004.12:g.123402202G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Asn205His	rs759152061	missense variant	-	NC_000004.12:g.123402204A>C	ExAC,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg206Gln	rs752693554	missense variant	-	NC_000004.12:g.123402208G>A	ExAC,gnomAD
SPRY1	O43609	p.Arg206Trp	rs1461030673	missense variant	-	NC_000004.12:g.123402207C>T	gnomAD
SPRY1	O43609	p.Cys208Tyr	rs1244091949	missense variant	-	NC_000004.12:g.123402214G>A	gnomAD
SPRY1	O43609	p.Leu209Phe	rs1390698144	missense variant	-	NC_000004.12:g.123402216C>T	TOPMed,gnomAD
SPRY1	O43609	p.Cys210Phe	rs1188023727	missense variant	-	NC_000004.12:g.123402220G>T	TOPMed
SPRY1	O43609	p.Ser211Cys	rs1475845838	missense variant	-	NC_000004.12:g.123402223C>G	TOPMed
SPRY1	O43609	p.Ser211Ala	rs140988860	missense variant	-	NC_000004.12:g.123402222T>G	ESP
SPRY1	O43609	p.Ser214Cys	rs1380483994	missense variant	-	NC_000004.12:g.123402231A>T	TOPMed,gnomAD
SPRY1	O43609	p.Met215Val	rs756048915	missense variant	-	NC_000004.12:g.123402234A>G	ExAC,gnomAD
SPRY1	O43609	p.Glu217Lys	rs1252185076	missense variant	-	NC_000004.12:g.123402240G>A	TOPMed
SPRY1	O43609	p.Cys221Tyr	rs777739648	missense variant	-	NC_000004.12:g.123402253G>A	ExAC,gnomAD
SPRY1	O43609	p.Ile228Met	rs145077253	missense variant	-	NC_000004.12:g.123402275C>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Phe229Leu	rs1305972600	missense variant	-	NC_000004.12:g.123402278C>G	TOPMed
SPRY1	O43609	p.Ser233Pro	rs779233192	missense variant	-	NC_000004.12:g.123402288T>C	ExAC,gnomAD
SPRY1	O43609	p.Asn234Ser	rs772249078	missense variant	-	NC_000004.12:g.123402292A>G	ExAC,gnomAD
SPRY1	O43609	p.Asn234Asp	rs746069665	missense variant	-	NC_000004.12:g.123402291A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp235Gly	rs780045221	missense variant	-	NC_000004.12:g.123402295A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp236Tyr	rs1190299190	missense variant	-	NC_000004.12:g.123402297G>T	gnomAD
SPRY1	O43609	p.Glu237Lys	rs142173292	missense variant	-	NC_000004.12:g.123402300G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly238Arg	rs777102609	missense variant	-	NC_000004.12:g.123402303G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr241Cys	rs762280661	missense variant	-	NC_000004.12:g.123402313A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp243Ala	rs1451455343	missense variant	-	NC_000004.12:g.123402319A>C	gnomAD
SPRY1	O43609	p.Asn244Lys	rs774111531	missense variant	-	NC_000004.12:g.123402323T>G	ExAC,gnomAD
SPRY1	O43609	p.Pro245Leu	rs866445691	missense variant	-	NC_000004.12:g.123402325C>T	TOPMed
SPRY1	O43609	p.Ser247Cys	rs1299652485	missense variant	-	NC_000004.12:g.123402331C>G	TOPMed
SPRY1	O43609	p.Cys248Arg	rs752212870	missense variant	-	NC_000004.12:g.123402333T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His252Tyr	rs753793837	missense variant	-	NC_000004.12:g.123402345C>T	ExAC,gnomAD
SPRY1	O43609	p.Cys254Tyr	rs764924905	missense variant	-	NC_000004.12:g.123402352G>A	ExAC,gnomAD
SPRY1	O43609	p.Cys254Ter	rs750666163	stop gained	-	NC_000004.12:g.123402353C>A	ExAC,gnomAD
SPRY1	O43609	p.Cys254Trp	rs750666163	missense variant	-	NC_000004.12:g.123402353C>G	ExAC,gnomAD
SPRY1	O43609	p.Ser255Cys	rs374261636	missense variant	-	NC_000004.12:g.123402355C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser255Phe	rs374261636	missense variant	-	NC_000004.12:g.123402355C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg256Thr	rs755021441	missense variant	-	NC_000004.12:g.123402358G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr257Cys	rs1485436325	missense variant	-	NC_000004.12:g.123402361A>G	gnomAD
SPRY1	O43609	p.Gly261Val	rs781715595	missense variant	-	NC_000004.12:g.123402373G>T	ExAC,gnomAD
SPRY1	O43609	p.Ala262Val	rs770209344	missense variant	-	NC_000004.12:g.123402376C>T	ExAC,gnomAD
SPRY1	O43609	p.Met263Ile	rs1436527566	missense variant	-	NC_000004.12:g.123402380G>A	gnomAD
SPRY1	O43609	p.Met263Val	rs773382084	missense variant	-	NC_000004.12:g.123402378A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser264Phe	rs745565941	missense variant	-	NC_000004.12:g.123402382C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys269Trp	rs775260056	missense variant	-	NC_000004.12:g.123402398C>G	ExAC,gnomAD
SPRY1	O43609	p.Leu271Phe	rs1179286977	missense variant	-	NC_000004.12:g.123402402C>T	TOPMed
SPRY1	O43609	p.Pro274Ser	rs961876940	missense variant	-	NC_000004.12:g.123402411C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro274Leu	rs760299005	missense variant	-	NC_000004.12:g.123402412C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro274Arg	rs760299005	missense variant	-	NC_000004.12:g.123402412C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro275Ser	rs776763816	missense variant	-	NC_000004.12:g.123402414C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro275Leu	rs200878762	missense variant	-	NC_000004.12:g.123402415C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys277Glu	rs368008252	missense variant	-	NC_000004.12:g.123402420A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly278Arg	rs1301625850	missense variant	-	NC_000004.12:g.123402423G>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys279Tyr	rs750140832	missense variant	-	NC_000004.12:g.123402427G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys279Ser	rs750140832	missense variant	-	NC_000004.12:g.123402427G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu282Met	rs1374752156	missense variant	-	NC_000004.12:g.123402435C>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys283Arg	rs766629767	missense variant	-	NC_000004.12:g.123402438T>C	ExAC,gnomAD
SPRY1	O43609	p.Cys283Phe	rs751778456	missense variant	-	NC_000004.12:g.123402439G>T	ExAC
SPRY1	O43609	p.Cys286Ser	rs1268162395	missense variant	-	NC_000004.12:g.123402448G>C	TOPMed,gnomAD
SPRY1	O43609	p.Cys286Arg	rs1389497430	missense variant	-	NC_000004.12:g.123402447T>C	TOPMed
SPRY1	O43609	p.Tyr287Ter	rs370375351	stop gained	-	NC_000004.12:g.123402452T>A	ESP,TOPMed
SPRY1	O43609	p.His291Leu	rs1191742583	missense variant	-	NC_000004.12:g.123402463A>T	gnomAD
SPRY1	O43609	p.His291Tyr	rs1442570144	missense variant	-	NC_000004.12:g.123402462C>T	TOPMed
SPRY1	O43609	p.Arg292His	rs748693044	missense variant	-	NC_000004.12:g.123402466G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly294Arg	rs1449897196	missense variant	-	NC_000004.12:g.123402471G>C	gnomAD
SPRY1	O43609	p.Arg296Lys	rs187259850	missense variant	-	NC_000004.12:g.123402478G>A	1000Genomes
SPRY1	O43609	p.Asn301Ser	rs756537678	missense variant	-	NC_000004.12:g.123402493A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr302Ala	rs367610616	missense variant	-	NC_000004.12:g.123402495A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr304His	rs1301960824	missense variant	-	NC_000004.12:g.123402501T>C	TOPMed,gnomAD
SPRY1	O43609	p.Tyr304Cys	rs1370688324	missense variant	-	NC_000004.12:g.123402502A>G	gnomAD
SPRY1	O43609	p.Cys305Phe	rs771387469	missense variant	-	NC_000004.12:g.123402505G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys305Ter	rs775346634	stop gained	-	NC_000004.12:g.123402506T>A	ExAC
SPRY1	O43609	p.Lys306Ter	rs746642537	stop gained	-	NC_000004.12:g.123402507A>T	ExAC
SPRY1	O43609	p.Leu307Pro	rs1298215244	missense variant	-	NC_000004.12:g.123402511T>C	gnomAD
SPRY1	O43609	p.Ser309Asn	rs768290759	missense variant	-	NC_000004.12:g.123402517G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser309Arg	rs1226970500	missense variant	-	NC_000004.12:g.123402518C>A	gnomAD
SPRY1	O43609	p.Cys310Trp	rs775967448	missense variant	-	NC_000004.12:g.123402521C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro311Ser	rs761837505	missense variant	-	NC_000004.12:g.123402522C>T	ExAC,gnomAD
SPRY1	O43609	p.Ser312Phe	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>T	TOPMed,gnomAD
SPRY1	O43609	p.Ser312Cys	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>G	TOPMed,gnomAD
SPRY1	O43609	p.Arg313Gln	rs773173631	missense variant	-	NC_000004.12:g.123402529G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg313Trp	rs765138425	missense variant	-	NC_000004.12:g.123402528C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln315Ter	rs762804313	stop gained	-	NC_000004.12:g.123402534C>T	ExAC,gnomAD
SPRY1	O43609	p.Gln315Arg	rs766150666	missense variant	-	NC_000004.12:g.123402535A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser319Ter	rs751794748	stop gained	-	NC_000004.12:g.123402547C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ter320Trp	rs528974183	stop lost	-	NC_000004.12:g.123402551A>G	1000Genomes
SPRY1	O43609	p.Asp2Tyr	rs1207370093	missense variant	-	NC_000004.12:g.123401595G>T	gnomAD
SPRY1	O43609	p.Pro3Leu	rs1261698204	missense variant	-	NC_000004.12:g.123401599C>T	gnomAD
SPRY1	O43609	p.Asn5Ser	rs778412478	missense variant	-	NC_000004.12:g.123401605A>G	ExAC,gnomAD
SPRY1	O43609	p.Gln6Glu	rs749729525	missense variant	-	NC_000004.12:g.123401607C>G	ExAC,gnomAD
SPRY1	O43609	p.Gln6Lys	rs749729525	missense variant	-	NC_000004.12:g.123401607C>A	ExAC,gnomAD
SPRY1	O43609	p.His7Tyr	rs905885817	missense variant	-	NC_000004.12:g.123401610C>T	TOPMed
SPRY1	O43609	p.His7Arg	rs774533854	missense variant	-	NC_000004.12:g.123401611A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser9Gly	rs1251466254	missense variant	-	NC_000004.12:g.123401616A>G	TOPMed
SPRY1	O43609	p.Gly10Asp	rs760438293	missense variant	-	NC_000004.12:g.123401620G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser12Leu	rs535040315	missense variant	-	NC_000004.12:g.123401626C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val15Leu	rs1402871564	missense variant	-	NC_000004.12:g.123401634G>T	gnomAD
SPRY1	O43609	p.Ile16Thr	rs761473092	missense variant	-	NC_000004.12:g.123401638T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln17Pro	rs1339659079	missense variant	-	NC_000004.12:g.123401641A>C	gnomAD
SPRY1	O43609	p.Pro19Ala	rs971313977	missense variant	-	NC_000004.12:g.123401646C>G	gnomAD
SPRY1	O43609	p.Ser20Pro	rs766226331	missense variant	-	NC_000004.12:g.123401649T>C	ExAC,gnomAD
SPRY1	O43609	p.Asp22Glu	rs1035810825	missense variant	-	NC_000004.12:g.123401657T>A	TOPMed,gnomAD
SPRY1	O43609	p.Ser23Arg	rs371347844	missense variant	-	NC_000004.12:g.123401660C>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Arg24Cys	rs755205655	missense variant	-	NC_000004.12:g.123401661C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Ser	rs755205655	missense variant	-	NC_000004.12:g.123401661C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Gly	rs755205655	missense variant	-	NC_000004.12:g.123401661C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24His	rs201409774	missense variant	-	NC_000004.12:g.123401662G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg26Thr	rs756227593	missense variant	-	NC_000004.12:g.123401668G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu27Ser	rs1020791706	missense variant	-	NC_000004.12:g.123401671T>C	TOPMed,gnomAD
SPRY1	O43609	p.Tyr29Phe	rs141161959	missense variant	-	NC_000004.12:g.123401677A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr29Cys	rs141161959	missense variant	-	NC_000004.12:g.123401677A>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu30Lys	rs979389180	missense variant	-	NC_000004.12:g.123401679G>A	TOPMed,gnomAD
SPRY1	O43609	p.Arg31Lys	rs757634424	missense variant	-	NC_000004.12:g.123401683G>A	ExAC,gnomAD
SPRY1	O43609	p.Glu32Gln	rs146763160	missense variant	-	NC_000004.12:g.123401685G>C	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Glu32Gly	rs746288824	missense variant	-	NC_000004.12:g.123401686A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile33Val	rs1032412417	missense variant	-	NC_000004.12:g.123401688A>G	TOPMed,gnomAD
SPRY1	O43609	p.Gln34Lys	rs772538327	missense variant	-	NC_000004.12:g.123401691C>A	ExAC,gnomAD
SPRY1	O43609	p.Gln34Arg	rs776496321	missense variant	-	NC_000004.12:g.123401692A>G	ExAC
SPRY1	O43609	p.Pro35Leu	rs1393731697	missense variant	-	NC_000004.12:g.123401695C>T	TOPMed
SPRY1	O43609	p.Pro35Ser	rs1437056441	missense variant	-	NC_000004.12:g.123401694C>T	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1173393898	missense variant	-	NC_000004.12:g.123401698C>G	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1309434500	missense variant	-	NC_000004.12:g.123401697A>T	gnomAD
SPRY1	O43609	p.Ala37Thr	rs115106991	missense variant	-	NC_000004.12:g.123401700G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile38Val	rs769362140	missense variant	-	NC_000004.12:g.123401703A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile38Ser	rs772531944	missense variant	-	NC_000004.12:g.123401704T>G	ExAC,gnomAD
SPRY1	O43609	p.Lys45Asn	rs1236068649	missense variant	-	NC_000004.12:g.123401726G>C	gnomAD
SPRY1	O43609	p.Ala46Ser	rs376428204	missense variant	-	NC_000004.12:g.123401727G>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Leu	rs759365951	missense variant	-	NC_000004.12:g.123401730A>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Val	rs759365951	missense variant	-	NC_000004.12:g.123401730A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg48Lys	rs537774102	missense variant	-	NC_000004.12:g.123401734G>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Gly49Ser	rs752972858	missense variant	-	NC_000004.12:g.123401736G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser50Arg	rs557398664	missense variant	-	NC_000004.12:g.123401741C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn51Ser	rs764236200	missense variant	-	NC_000004.12:g.123401743A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu52Gln	rs757800382	missense variant	-	NC_000004.12:g.123401745G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu55Lys	rs181355842	missense variant	-	NC_000004.12:g.123401754G>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser58Leu	rs746376752	missense variant	-	NC_000004.12:g.123401764C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val59Met	rs780510324	missense variant	-	NC_000004.12:g.123401766G>A	ExAC,gnomAD
SPRY1	O43609	p.Val60Leu	rs747809146	missense variant	-	NC_000004.12:g.123401769G>C	ExAC,gnomAD
SPRY1	O43609	p.Pro63Ser	rs772802512	missense variant	-	NC_000004.12:g.123401778C>T	ExAC
SPRY1	O43609	p.Pro63Leu	rs147613282	missense variant	-	NC_000004.12:g.123401779C>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala64Val	rs1402626301	missense variant	-	NC_000004.12:g.123401782C>T	gnomAD
SPRY1	O43609	p.Pro65His	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>A	TOPMed,gnomAD
SPRY1	O43609	p.Pro65Leu	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro65Ala	rs770444253	missense variant	-	NC_000004.12:g.123401784C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro65Arg	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>G	TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gly	rs745654554	missense variant	-	NC_000004.12:g.123401787C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gln	rs140546097	missense variant	-	NC_000004.12:g.123401788G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Trp	rs745654554	missense variant	-	NC_000004.12:g.123401787C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ser	rs760985314	missense variant	-	NC_000004.12:g.123401796C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Leu	rs754063951	missense variant	-	NC_000004.12:g.123401797C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ala	rs760985314	missense variant	-	NC_000004.12:g.123401796C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Arg	rs754063951	missense variant	-	NC_000004.12:g.123401797C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg70Lys	rs1252472220	missense variant	-	NC_000004.12:g.123401800G>A	gnomAD
SPRY1	O43609	p.Lys73Gln	rs761868969	missense variant	-	NC_000004.12:g.123401808A>C	ExAC,gnomAD
SPRY1	O43609	p.His74Asn	rs765397031	missense variant	-	NC_000004.12:g.123401811C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His74Arg	rs750983063	missense variant	-	NC_000004.12:g.123401812A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His78Gln	rs1293612685	missense variant	-	NC_000004.12:g.123401825T>G	gnomAD
SPRY1	O43609	p.Ile81Thr	rs1333725638	missense variant	-	NC_000004.12:g.123401833T>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro82Ser	rs780598099	missense variant	-	NC_000004.12:g.123401835C>T	ExAC,gnomAD
SPRY1	O43609	p.Ile83Val	rs1231136079	missense variant	-	NC_000004.12:g.123401838A>G	TOPMed,gnomAD
SPRY1	O43609	p.Asn87Asp	rs373671065	missense variant	-	NC_000004.12:g.123401850A>G	ESP,TOPMed
SPRY1	O43609	p.Tyr89Cys	rs376949828	missense variant	-	NC_000004.12:g.123401857A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu90Lys	rs1337971722	missense variant	-	NC_000004.12:g.123401859G>A	TOPMed
SPRY1	O43609	p.Glu90Asp	rs770404936	missense variant	-	NC_000004.12:g.123401861G>C	ExAC,gnomAD
SPRY1	O43609	p.His91Arg	rs370896287	missense variant	-	NC_000004.12:g.123401863A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Thr94Lys	rs542203833	missense variant	-	NC_000004.12:g.123401872C>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr94Ile	rs542203833	missense variant	-	NC_000004.12:g.123401872C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly98Glu	rs374319181	missense variant	-	NC_000004.12:g.123401884G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala100Glu	rs1251272686	missense variant	-	NC_000004.12:g.123401890C>A	gnomAD
SPRY1	O43609	p.Val101Gly	rs1177711939	missense variant	-	NC_000004.12:g.123401893T>G	TOPMed
SPRY1	O43609	p.Ser104Gly	rs762040198	missense variant	-	NC_000004.12:g.123401901A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala106Val	rs765414706	missense variant	-	NC_000004.12:g.123401908C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala106Asp	rs765414706	missense variant	-	NC_000004.12:g.123401908C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg107Gly	rs1415724393	missense variant	-	NC_000004.12:g.123401910A>G	gnomAD
SPRY1	O43609	p.Arg107Lys	rs1190528580	missense variant	-	NC_000004.12:g.123401911G>A	gnomAD
SPRY1	O43609	p.Gly108Val	rs763577838	missense variant	-	NC_000004.12:g.123401914G>T	ExAC,gnomAD
SPRY1	O43609	p.Gly108Arg	rs1421632582	missense variant	-	NC_000004.12:g.123401913G>C	gnomAD
SPRY1	O43609	p.Ile110Val	rs1412044700	missense variant	-	NC_000004.12:g.123401919A>G	gnomAD
SPRY1	O43609	p.Leu111Phe	rs767043237	missense variant	-	NC_000004.12:g.123401924G>C	ExAC,gnomAD
SPRY1	O43609	p.Arg113Lys	rs752075165	missense variant	-	NC_000004.12:g.123401929G>A	ExAC,gnomAD
SPRY1	O43609	p.Arg113Thr	rs752075165	missense variant	-	NC_000004.12:g.123401929G>C	ExAC,gnomAD
SPRY1	O43609	p.Thr115Ala	rs755365213	missense variant	-	NC_000004.12:g.123401934A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr115Ser	rs755365213	missense variant	-	NC_000004.12:g.123401934A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser116Gly	rs753444242	missense variant	-	NC_000004.12:g.123401937A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser116Thr	rs1022301262	missense variant	-	NC_000004.12:g.123401938G>C	gnomAD
SPRY1	O43609	p.Thr117Ser	rs756834122	missense variant	-	NC_000004.12:g.123401940A>T	ExAC,gnomAD
SPRY1	O43609	p.Gly118Val	rs1211384338	missense variant	-	NC_000004.12:g.123401944G>T	TOPMed
SPRY1	O43609	p.Ser122Asn	rs778423708	missense variant	-	NC_000004.12:g.123401956G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly124Trp	rs1292973248	missense variant	-	NC_000004.12:g.123401961G>T	TOPMed,gnomAD
SPRY1	O43609	p.Gly124Glu	rs745330327	missense variant	-	NC_000004.12:g.123401962G>A	ExAC,gnomAD
SPRY1	O43609	p.Asn126Ser	rs1307932630	missense variant	-	NC_000004.12:g.123401968A>G	-
SPRY1	O43609	p.Ser127Gly	rs757878449	missense variant	-	NC_000004.12:g.123401970A>G	ExAC,gnomAD
SPRY1	O43609	p.Ser128Gly	rs780002408	missense variant	-	NC_000004.12:g.123401973A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala129Val	rs1224884461	missense variant	-	NC_000004.12:g.123401977C>T	TOPMed
SPRY1	O43609	p.Glu132Gln	rs1210748083	missense variant	-	NC_000004.12:g.123401985G>C	gnomAD
SPRY1	O43609	p.Leu136Phe	rs368026966	missense variant	-	NC_000004.12:g.123401999A>T	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly137Val	rs748350968	missense variant	-	NC_000004.12:g.123402001G>T	ExAC,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Leu	rs770093430	missense variant	-	NC_000004.12:g.123402007C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Ter	rs770093430	stop gained	-	NC_000004.12:g.123402007C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg143Thr	rs1156252534	missense variant	-	NC_000004.12:g.123402019G>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro144Arg	rs180866016	missense variant	-	NC_000004.12:g.123402022C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro144Ser	rs763166544	missense variant	-	NC_000004.12:g.123402021C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro144Leu	rs180866016	missense variant	-	NC_000004.12:g.123402022C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Leu	rs756921979	missense variant	-	NC_000004.12:g.123402028C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Thr	rs767775969	missense variant	-	NC_000004.12:g.123402027C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Ala	rs767775969	missense variant	-	NC_000004.12:g.123402027C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly147Asp	rs764915721	missense variant	-	NC_000004.12:g.123402031G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Arg	rs750042701	missense variant	-	NC_000004.12:g.123402034A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Leu	rs750042701	missense variant	-	NC_000004.12:g.123402034A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg149Ser	rs779563071	missense variant	-	NC_000004.12:g.123402038G>C	ExAC
SPRY1	O43609	p.Ser150Phe	rs746928184	missense variant	-	NC_000004.12:g.123402040C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala153Thr	rs1467473390	missense variant	-	NC_000004.12:g.123402048G>A	gnomAD
SPRY1	O43609	p.Ile154Phe	rs374766594	missense variant	-	NC_000004.12:g.123402051A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gln	rs769682383	missense variant	-	NC_000004.12:g.123402055G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Pro	rs769682383	missense variant	-	NC_000004.12:g.123402055G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Trp	rs780874264	missense variant	-	NC_000004.12:g.123402054C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gly	rs780874264	missense variant	-	NC_000004.12:g.123402054C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr156Ser	rs1306073221	missense variant	-	NC_000004.12:g.123402057A>T	TOPMed
SPRY1	O43609	p.Gln157Lys	rs773636932	missense variant	-	NC_000004.12:g.123402060C>A	ExAC,gnomAD
SPRY1	O43609	p.Gln157Ter	rs773636932	stop gained	-	NC_000004.12:g.123402060C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro158Thr	rs143726437	missense variant	-	NC_000004.12:g.123402063C>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Pro158Leu	rs1179227790	missense variant	-	NC_000004.12:g.123402064C>T	TOPMed,gnomAD
SPRY1	O43609	p.Lys159Glu	rs774421542	missense variant	-	NC_000004.12:g.123402066A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile162Met	rs759990917	missense variant	-	NC_000004.12:g.123402077T>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>A	gnomAD
SPRY1	O43609	p.Asp164Asn	rs143661919	missense variant	-	NC_000004.12:g.123402081G>A	ESP,ExAC,TOPMed
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>G	gnomAD
SPRY1	O43609	p.Asp165Asn	rs1057124012	missense variant	-	NC_000004.12:g.123402084G>A	TOPMed,gnomAD
SPRY1	O43609	p.Leu166Phe	rs920304696	missense variant	-	NC_000004.12:g.123402089G>C	gnomAD
SPRY1	O43609	p.Gly168Arg	rs764433677	missense variant	-	NC_000004.12:g.123402093G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Ser	rs764433677	missense variant	-	NC_000004.12:g.123402093G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Cys	rs764433677	missense variant	-	NC_000004.12:g.123402093G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys171Arg	rs1313426473	missense variant	-	NC_000004.12:g.123402103A>G	gnomAD
SPRY1	O43609	p.Asp173Gly	rs750092496	missense variant	-	NC_000004.12:g.123402109A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp173Asn	rs1437329042	missense variant	-	NC_000004.12:g.123402108G>A	gnomAD
SPRY1	O43609	p.Leu174Pro	rs1233487324	missense variant	-	NC_000004.12:g.123402112T>C	gnomAD
SPRY1	O43609	p.Thr175Ile	rs1274994954	missense variant	-	NC_000004.12:g.123402115C>T	TOPMed,gnomAD
SPRY1	O43609	p.His177Gln	rs1271914621	missense variant	-	NC_000004.12:g.123402122C>G	gnomAD
SPRY1	O43609	p.His177Pro	rs369944717	missense variant	-	NC_000004.12:g.123402121A>C	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His177Tyr	rs906180815	missense variant	-	NC_000004.12:g.123402120C>T	-
SPRY1	O43609	p.Lys178Asn	rs781231015	missense variant	-	NC_000004.12:g.123402125G>C	ExAC,gnomAD
SPRY1	O43609	p.Lys178Arg	rs754426228	missense variant	-	NC_000004.12:g.123402124A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Phe179Leu	rs1250628278	missense variant	-	NC_000004.12:g.123402128C>G	gnomAD
SPRY1	O43609	p.Cys181Trp	rs1453055762	missense variant	-	NC_000004.12:g.123402134T>G	gnomAD
SPRY1	O43609	p.Gln183Ter	rs752678914	stop gained	-	NC_000004.12:g.123402138C>T	ExAC,gnomAD
SPRY1	O43609	p.Gln183His	rs1391165635	missense variant	-	NC_000004.12:g.123402140G>C	gnomAD
SPRY1	O43609	p.Gly185Arg	rs756030670	missense variant	-	NC_000004.12:g.123402144G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly185Glu	rs902343752	missense variant	-	NC_000004.12:g.123402145G>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys187Phe	rs1395990676	missense variant	-	NC_000004.12:g.123402151G>T	gnomAD
SPRY1	O43609	p.Lys188Gln	rs369289367	missense variant	-	NC_000004.12:g.123402153A>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Lys188Thr	rs201051198	missense variant	-	NC_000004.12:g.123402154A>C	TOPMed,gnomAD
SPRY1	O43609	p.Lys188Asn	rs760600305	missense variant	-	NC_000004.12:g.123402155G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys188Arg	rs201051198	missense variant	-	NC_000004.12:g.123402154A>G	TOPMed,gnomAD
SPRY1	O43609	p.Gly190Glu	rs771143455	missense variant	-	NC_000004.12:g.123402160G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly190Arg	rs1440072165	missense variant	-	NC_000004.12:g.123402159G>A	gnomAD
SPRY1	O43609	p.Glu191Ala	rs1053558732	missense variant	-	NC_000004.12:g.123402163A>C	TOPMed
SPRY1	O43609	p.Thr193Ile	rs1225022544	missense variant	-	NC_000004.12:g.123402169C>T	TOPMed,gnomAD
SPRY1	O43609	p.Thr193Ala	rs1359961735	missense variant	-	NC_000004.12:g.123402168A>G	TOPMed
SPRY1	O43609	p.Ala194Val	rs889670911	missense variant	-	NC_000004.12:g.123402172C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro195Leu	rs772009773	missense variant	-	NC_000004.12:g.123402175C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser200Thr	rs769018060	missense variant	-	NC_000004.12:g.123402189T>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu202Phe	rs766105212	missense variant	-	NC_000004.12:g.123402197G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu202Ser	rs376045682	missense variant	-	NC_000004.12:g.123402196T>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Leu202Val	rs768635986	missense variant	-	NC_000004.12:g.123402195T>G	gnomAD
SPRY1	O43609	p.Leu202Ter	rs376045682	stop gained	-	NC_000004.12:g.123402196T>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Cys204Tyr	rs151050902	missense variant	-	NC_000004.12:g.123402202G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn205His	rs759152061	missense variant	-	NC_000004.12:g.123402204A>C	ExAC,gnomAD
SPRY1	O43609	p.Arg206Trp	rs1461030673	missense variant	-	NC_000004.12:g.123402207C>T	gnomAD
SPRY1	O43609	p.Arg206Gln	rs752693554	missense variant	-	NC_000004.12:g.123402208G>A	ExAC,gnomAD
SPRY1	O43609	p.Cys208Tyr	rs1244091949	missense variant	-	NC_000004.12:g.123402214G>A	gnomAD
SPRY1	O43609	p.Leu209Phe	rs1390698144	missense variant	-	NC_000004.12:g.123402216C>T	TOPMed,gnomAD
SPRY1	O43609	p.Cys210Phe	rs1188023727	missense variant	-	NC_000004.12:g.123402220G>T	TOPMed
SPRY1	O43609	p.Ser211Cys	rs1475845838	missense variant	-	NC_000004.12:g.123402223C>G	TOPMed
SPRY1	O43609	p.Ser211Ala	rs140988860	missense variant	-	NC_000004.12:g.123402222T>G	ESP
SPRY1	O43609	p.Ser214Cys	rs1380483994	missense variant	-	NC_000004.12:g.123402231A>T	TOPMed,gnomAD
SPRY1	O43609	p.Met215Val	rs756048915	missense variant	-	NC_000004.12:g.123402234A>G	ExAC,gnomAD
SPRY1	O43609	p.Glu217Lys	rs1252185076	missense variant	-	NC_000004.12:g.123402240G>A	TOPMed
SPRY1	O43609	p.Cys221Tyr	rs777739648	missense variant	-	NC_000004.12:g.123402253G>A	ExAC,gnomAD
SPRY1	O43609	p.Ile228Met	rs145077253	missense variant	-	NC_000004.12:g.123402275C>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Phe229Leu	rs1305972600	missense variant	-	NC_000004.12:g.123402278C>G	TOPMed
SPRY1	O43609	p.Ser233Pro	rs779233192	missense variant	-	NC_000004.12:g.123402288T>C	ExAC,gnomAD
SPRY1	O43609	p.Asn234Asp	rs746069665	missense variant	-	NC_000004.12:g.123402291A>G	ExAC,gnomAD
SPRY1	O43609	p.Asn234Ser	rs772249078	missense variant	-	NC_000004.12:g.123402292A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp235Gly	rs780045221	missense variant	-	NC_000004.12:g.123402295A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp236Tyr	rs1190299190	missense variant	-	NC_000004.12:g.123402297G>T	gnomAD
SPRY1	O43609	p.Glu237Lys	rs142173292	missense variant	-	NC_000004.12:g.123402300G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly238Arg	rs777102609	missense variant	-	NC_000004.12:g.123402303G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr241Cys	rs762280661	missense variant	-	NC_000004.12:g.123402313A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp243Ala	rs1451455343	missense variant	-	NC_000004.12:g.123402319A>C	gnomAD
SPRY1	O43609	p.Asn244Lys	rs774111531	missense variant	-	NC_000004.12:g.123402323T>G	ExAC,gnomAD
SPRY1	O43609	p.Pro245Leu	rs866445691	missense variant	-	NC_000004.12:g.123402325C>T	TOPMed
SPRY1	O43609	p.Ser247Cys	rs1299652485	missense variant	-	NC_000004.12:g.123402331C>G	TOPMed
SPRY1	O43609	p.Cys248Arg	rs752212870	missense variant	-	NC_000004.12:g.123402333T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His252Tyr	rs753793837	missense variant	-	NC_000004.12:g.123402345C>T	ExAC,gnomAD
SPRY1	O43609	p.Cys254Trp	rs750666163	missense variant	-	NC_000004.12:g.123402353C>G	ExAC,gnomAD
SPRY1	O43609	p.Cys254Tyr	rs764924905	missense variant	-	NC_000004.12:g.123402352G>A	ExAC,gnomAD
SPRY1	O43609	p.Cys254Ter	rs750666163	stop gained	-	NC_000004.12:g.123402353C>A	ExAC,gnomAD
SPRY1	O43609	p.Ser255Cys	rs374261636	missense variant	-	NC_000004.12:g.123402355C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser255Phe	rs374261636	missense variant	-	NC_000004.12:g.123402355C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg256Thr	rs755021441	missense variant	-	NC_000004.12:g.123402358G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr257Cys	rs1485436325	missense variant	-	NC_000004.12:g.123402361A>G	gnomAD
SPRY1	O43609	p.Gly261Val	rs781715595	missense variant	-	NC_000004.12:g.123402373G>T	ExAC,gnomAD
SPRY1	O43609	p.Ala262Val	rs770209344	missense variant	-	NC_000004.12:g.123402376C>T	ExAC,gnomAD
SPRY1	O43609	p.Met263Val	rs773382084	missense variant	-	NC_000004.12:g.123402378A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Met263Ile	rs1436527566	missense variant	-	NC_000004.12:g.123402380G>A	gnomAD
SPRY1	O43609	p.Ser264Phe	rs745565941	missense variant	-	NC_000004.12:g.123402382C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys269Trp	rs775260056	missense variant	-	NC_000004.12:g.123402398C>G	ExAC,gnomAD
SPRY1	O43609	p.Leu271Phe	rs1179286977	missense variant	-	NC_000004.12:g.123402402C>T	TOPMed
SPRY1	O43609	p.Pro274Arg	rs760299005	missense variant	-	NC_000004.12:g.123402412C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro274Ser	rs961876940	missense variant	-	NC_000004.12:g.123402411C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro274Leu	rs760299005	missense variant	-	NC_000004.12:g.123402412C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro275Leu	rs200878762	missense variant	-	NC_000004.12:g.123402415C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro275Ser	rs776763816	missense variant	-	NC_000004.12:g.123402414C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys277Glu	rs368008252	missense variant	-	NC_000004.12:g.123402420A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly278Arg	rs1301625850	missense variant	-	NC_000004.12:g.123402423G>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys279Ser	rs750140832	missense variant	-	NC_000004.12:g.123402427G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys279Tyr	rs750140832	missense variant	-	NC_000004.12:g.123402427G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu282Met	rs1374752156	missense variant	-	NC_000004.12:g.123402435C>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys283Arg	rs766629767	missense variant	-	NC_000004.12:g.123402438T>C	ExAC,gnomAD
SPRY1	O43609	p.Cys283Phe	rs751778456	missense variant	-	NC_000004.12:g.123402439G>T	ExAC
SPRY1	O43609	p.Cys286Arg	rs1389497430	missense variant	-	NC_000004.12:g.123402447T>C	TOPMed
SPRY1	O43609	p.Cys286Ser	rs1268162395	missense variant	-	NC_000004.12:g.123402448G>C	TOPMed,gnomAD
SPRY1	O43609	p.Tyr287Ter	rs370375351	stop gained	-	NC_000004.12:g.123402452T>A	ESP,TOPMed
SPRY1	O43609	p.His291Tyr	rs1442570144	missense variant	-	NC_000004.12:g.123402462C>T	TOPMed
SPRY1	O43609	p.His291Leu	rs1191742583	missense variant	-	NC_000004.12:g.123402463A>T	gnomAD
SPRY1	O43609	p.Arg292His	rs748693044	missense variant	-	NC_000004.12:g.123402466G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly294Arg	rs1449897196	missense variant	-	NC_000004.12:g.123402471G>C	gnomAD
SPRY1	O43609	p.Arg296Lys	rs187259850	missense variant	-	NC_000004.12:g.123402478G>A	1000Genomes
SPRY1	O43609	p.Asn301Ser	rs756537678	missense variant	-	NC_000004.12:g.123402493A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr302Ala	rs367610616	missense variant	-	NC_000004.12:g.123402495A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr304Cys	rs1370688324	missense variant	-	NC_000004.12:g.123402502A>G	gnomAD
SPRY1	O43609	p.Tyr304His	rs1301960824	missense variant	-	NC_000004.12:g.123402501T>C	TOPMed,gnomAD
SPRY1	O43609	p.Cys305Phe	rs771387469	missense variant	-	NC_000004.12:g.123402505G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys305Ter	rs775346634	stop gained	-	NC_000004.12:g.123402506T>A	ExAC
SPRY1	O43609	p.Lys306Ter	rs746642537	stop gained	-	NC_000004.12:g.123402507A>T	ExAC
SPRY1	O43609	p.Leu307Pro	rs1298215244	missense variant	-	NC_000004.12:g.123402511T>C	gnomAD
SPRY1	O43609	p.Ser309Arg	rs1226970500	missense variant	-	NC_000004.12:g.123402518C>A	gnomAD
SPRY1	O43609	p.Ser309Asn	rs768290759	missense variant	-	NC_000004.12:g.123402517G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys310Trp	rs775967448	missense variant	-	NC_000004.12:g.123402521C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro311Ser	rs761837505	missense variant	-	NC_000004.12:g.123402522C>T	ExAC,gnomAD
SPRY1	O43609	p.Ser312Cys	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>G	TOPMed,gnomAD
SPRY1	O43609	p.Ser312Phe	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>T	TOPMed,gnomAD
SPRY1	O43609	p.Arg313Gln	rs773173631	missense variant	-	NC_000004.12:g.123402529G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg313Trp	rs765138425	missense variant	-	NC_000004.12:g.123402528C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln315Arg	rs766150666	missense variant	-	NC_000004.12:g.123402535A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln315Ter	rs762804313	stop gained	-	NC_000004.12:g.123402534C>T	ExAC,gnomAD
SPRY1	O43609	p.Ser319Ter	rs751794748	stop gained	-	NC_000004.12:g.123402547C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ter320Trp	rs528974183	stop lost	-	NC_000004.12:g.123402551A>G	1000Genomes
SPRY1	O43609	p.Asp2Tyr	rs1207370093	missense variant	-	NC_000004.12:g.123401595G>T	gnomAD
SPRY1	O43609	p.Pro3Leu	rs1261698204	missense variant	-	NC_000004.12:g.123401599C>T	gnomAD
SPRY1	O43609	p.Asn5Ser	rs778412478	missense variant	-	NC_000004.12:g.123401605A>G	ExAC,gnomAD
SPRY1	O43609	p.Gln6Lys	rs749729525	missense variant	-	NC_000004.12:g.123401607C>A	ExAC,gnomAD
SPRY1	O43609	p.Gln6Glu	rs749729525	missense variant	-	NC_000004.12:g.123401607C>G	ExAC,gnomAD
SPRY1	O43609	p.His7Tyr	rs905885817	missense variant	-	NC_000004.12:g.123401610C>T	TOPMed
SPRY1	O43609	p.His7Arg	rs774533854	missense variant	-	NC_000004.12:g.123401611A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser9Gly	rs1251466254	missense variant	-	NC_000004.12:g.123401616A>G	TOPMed
SPRY1	O43609	p.Gly10Asp	rs760438293	missense variant	-	NC_000004.12:g.123401620G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser12Leu	rs535040315	missense variant	-	NC_000004.12:g.123401626C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val15Leu	rs1402871564	missense variant	-	NC_000004.12:g.123401634G>T	gnomAD
SPRY1	O43609	p.Ile16Thr	rs761473092	missense variant	-	NC_000004.12:g.123401638T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln17Pro	rs1339659079	missense variant	-	NC_000004.12:g.123401641A>C	gnomAD
SPRY1	O43609	p.Pro19Ala	rs971313977	missense variant	-	NC_000004.12:g.123401646C>G	gnomAD
SPRY1	O43609	p.Ser20Pro	rs766226331	missense variant	-	NC_000004.12:g.123401649T>C	ExAC,gnomAD
SPRY1	O43609	p.Asp22Glu	rs1035810825	missense variant	-	NC_000004.12:g.123401657T>A	TOPMed,gnomAD
SPRY1	O43609	p.Ser23Arg	rs371347844	missense variant	-	NC_000004.12:g.123401660C>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Arg24Gly	rs755205655	missense variant	-	NC_000004.12:g.123401661C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24His	rs201409774	missense variant	-	NC_000004.12:g.123401662G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Cys	rs755205655	missense variant	-	NC_000004.12:g.123401661C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Ser	rs755205655	missense variant	-	NC_000004.12:g.123401661C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg26Thr	rs756227593	missense variant	-	NC_000004.12:g.123401668G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu27Ser	rs1020791706	missense variant	-	NC_000004.12:g.123401671T>C	TOPMed,gnomAD
SPRY1	O43609	p.Tyr29Cys	rs141161959	missense variant	-	NC_000004.12:g.123401677A>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr29Phe	rs141161959	missense variant	-	NC_000004.12:g.123401677A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu30Lys	rs979389180	missense variant	-	NC_000004.12:g.123401679G>A	TOPMed,gnomAD
SPRY1	O43609	p.Arg31Lys	rs757634424	missense variant	-	NC_000004.12:g.123401683G>A	ExAC,gnomAD
SPRY1	O43609	p.Glu32Gln	rs146763160	missense variant	-	NC_000004.12:g.123401685G>C	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Glu32Gly	rs746288824	missense variant	-	NC_000004.12:g.123401686A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile33Val	rs1032412417	missense variant	-	NC_000004.12:g.123401688A>G	TOPMed,gnomAD
SPRY1	O43609	p.Gln34Arg	rs776496321	missense variant	-	NC_000004.12:g.123401692A>G	ExAC
SPRY1	O43609	p.Gln34Lys	rs772538327	missense variant	-	NC_000004.12:g.123401691C>A	ExAC,gnomAD
SPRY1	O43609	p.Pro35Ser	rs1437056441	missense variant	-	NC_000004.12:g.123401694C>T	TOPMed
SPRY1	O43609	p.Pro35Leu	rs1393731697	missense variant	-	NC_000004.12:g.123401695C>T	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1173393898	missense variant	-	NC_000004.12:g.123401698C>G	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1309434500	missense variant	-	NC_000004.12:g.123401697A>T	gnomAD
SPRY1	O43609	p.Ala37Thr	rs115106991	missense variant	-	NC_000004.12:g.123401700G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile38Ser	rs772531944	missense variant	-	NC_000004.12:g.123401704T>G	ExAC,gnomAD
SPRY1	O43609	p.Ile38Val	rs769362140	missense variant	-	NC_000004.12:g.123401703A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys45Asn	rs1236068649	missense variant	-	NC_000004.12:g.123401726G>C	gnomAD
SPRY1	O43609	p.Ala46Ser	rs376428204	missense variant	-	NC_000004.12:g.123401727G>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Val	rs759365951	missense variant	-	NC_000004.12:g.123401730A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Leu	rs759365951	missense variant	-	NC_000004.12:g.123401730A>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg48Lys	rs537774102	missense variant	-	NC_000004.12:g.123401734G>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Gly49Ser	rs752972858	missense variant	-	NC_000004.12:g.123401736G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser50Arg	rs557398664	missense variant	-	NC_000004.12:g.123401741C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn51Ser	rs764236200	missense variant	-	NC_000004.12:g.123401743A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu52Gln	rs757800382	missense variant	-	NC_000004.12:g.123401745G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu55Lys	rs181355842	missense variant	-	NC_000004.12:g.123401754G>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser58Leu	rs746376752	missense variant	-	NC_000004.12:g.123401764C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val59Met	rs780510324	missense variant	-	NC_000004.12:g.123401766G>A	ExAC,gnomAD
SPRY1	O43609	p.Val60Leu	rs747809146	missense variant	-	NC_000004.12:g.123401769G>C	ExAC,gnomAD
SPRY1	O43609	p.Pro63Ser	rs772802512	missense variant	-	NC_000004.12:g.123401778C>T	ExAC
SPRY1	O43609	p.Pro63Leu	rs147613282	missense variant	-	NC_000004.12:g.123401779C>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala64Val	rs1402626301	missense variant	-	NC_000004.12:g.123401782C>T	gnomAD
SPRY1	O43609	p.Pro65Leu	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro65Ala	rs770444253	missense variant	-	NC_000004.12:g.123401784C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro65Arg	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>G	TOPMed,gnomAD
SPRY1	O43609	p.Pro65His	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>A	TOPMed,gnomAD
SPRY1	O43609	p.Arg66Trp	rs745654554	missense variant	-	NC_000004.12:g.123401787C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gly	rs745654554	missense variant	-	NC_000004.12:g.123401787C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gln	rs140546097	missense variant	-	NC_000004.12:g.123401788G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Leu	rs754063951	missense variant	-	NC_000004.12:g.123401797C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ala	rs760985314	missense variant	-	NC_000004.12:g.123401796C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Arg	rs754063951	missense variant	-	NC_000004.12:g.123401797C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ser	rs760985314	missense variant	-	NC_000004.12:g.123401796C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg70Lys	rs1252472220	missense variant	-	NC_000004.12:g.123401800G>A	gnomAD
SPRY1	O43609	p.Lys73Gln	rs761868969	missense variant	-	NC_000004.12:g.123401808A>C	ExAC,gnomAD
SPRY1	O43609	p.His74Arg	rs750983063	missense variant	-	NC_000004.12:g.123401812A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His74Asn	rs765397031	missense variant	-	NC_000004.12:g.123401811C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His78Gln	rs1293612685	missense variant	-	NC_000004.12:g.123401825T>G	gnomAD
SPRY1	O43609	p.Ile81Thr	rs1333725638	missense variant	-	NC_000004.12:g.123401833T>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro82Ser	rs780598099	missense variant	-	NC_000004.12:g.123401835C>T	ExAC,gnomAD
SPRY1	O43609	p.Ile83Val	rs1231136079	missense variant	-	NC_000004.12:g.123401838A>G	TOPMed,gnomAD
SPRY1	O43609	p.Asn87Asp	rs373671065	missense variant	-	NC_000004.12:g.123401850A>G	ESP,TOPMed
SPRY1	O43609	p.Tyr89Cys	rs376949828	missense variant	-	NC_000004.12:g.123401857A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu90Asp	rs770404936	missense variant	-	NC_000004.12:g.123401861G>C	ExAC,gnomAD
SPRY1	O43609	p.Glu90Lys	rs1337971722	missense variant	-	NC_000004.12:g.123401859G>A	TOPMed
SPRY1	O43609	p.His91Arg	rs370896287	missense variant	-	NC_000004.12:g.123401863A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Thr94Ile	rs542203833	missense variant	-	NC_000004.12:g.123401872C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr94Lys	rs542203833	missense variant	-	NC_000004.12:g.123401872C>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly98Glu	rs374319181	missense variant	-	NC_000004.12:g.123401884G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala100Glu	rs1251272686	missense variant	-	NC_000004.12:g.123401890C>A	gnomAD
SPRY1	O43609	p.Val101Gly	rs1177711939	missense variant	-	NC_000004.12:g.123401893T>G	TOPMed
SPRY1	O43609	p.Ser104Gly	rs762040198	missense variant	-	NC_000004.12:g.123401901A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala106Val	rs765414706	missense variant	-	NC_000004.12:g.123401908C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala106Asp	rs765414706	missense variant	-	NC_000004.12:g.123401908C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg107Lys	rs1190528580	missense variant	-	NC_000004.12:g.123401911G>A	gnomAD
SPRY1	O43609	p.Arg107Gly	rs1415724393	missense variant	-	NC_000004.12:g.123401910A>G	gnomAD
SPRY1	O43609	p.Gly108Arg	rs1421632582	missense variant	-	NC_000004.12:g.123401913G>C	gnomAD
SPRY1	O43609	p.Gly108Val	rs763577838	missense variant	-	NC_000004.12:g.123401914G>T	ExAC,gnomAD
SPRY1	O43609	p.Ile110Val	rs1412044700	missense variant	-	NC_000004.12:g.123401919A>G	gnomAD
SPRY1	O43609	p.Leu111Phe	rs767043237	missense variant	-	NC_000004.12:g.123401924G>C	ExAC,gnomAD
SPRY1	O43609	p.Arg113Thr	rs752075165	missense variant	-	NC_000004.12:g.123401929G>C	ExAC,gnomAD
SPRY1	O43609	p.Arg113Lys	rs752075165	missense variant	-	NC_000004.12:g.123401929G>A	ExAC,gnomAD
SPRY1	O43609	p.Thr115Ser	rs755365213	missense variant	-	NC_000004.12:g.123401934A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr115Ala	rs755365213	missense variant	-	NC_000004.12:g.123401934A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser116Gly	rs753444242	missense variant	-	NC_000004.12:g.123401937A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser116Thr	rs1022301262	missense variant	-	NC_000004.12:g.123401938G>C	gnomAD
SPRY1	O43609	p.Thr117Ser	rs756834122	missense variant	-	NC_000004.12:g.123401940A>T	ExAC,gnomAD
SPRY1	O43609	p.Gly118Val	rs1211384338	missense variant	-	NC_000004.12:g.123401944G>T	TOPMed
SPRY1	O43609	p.Ser122Asn	rs778423708	missense variant	-	NC_000004.12:g.123401956G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly124Glu	rs745330327	missense variant	-	NC_000004.12:g.123401962G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly124Trp	rs1292973248	missense variant	-	NC_000004.12:g.123401961G>T	TOPMed,gnomAD
SPRY1	O43609	p.Asn126Ser	rs1307932630	missense variant	-	NC_000004.12:g.123401968A>G	-
SPRY1	O43609	p.Ser127Gly	rs757878449	missense variant	-	NC_000004.12:g.123401970A>G	ExAC,gnomAD
SPRY1	O43609	p.Ser128Gly	rs780002408	missense variant	-	NC_000004.12:g.123401973A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala129Val	rs1224884461	missense variant	-	NC_000004.12:g.123401977C>T	TOPMed
SPRY1	O43609	p.Glu132Gln	rs1210748083	missense variant	-	NC_000004.12:g.123401985G>C	gnomAD
SPRY1	O43609	p.Leu136Phe	rs368026966	missense variant	-	NC_000004.12:g.123401999A>T	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly137Val	rs748350968	missense variant	-	NC_000004.12:g.123402001G>T	ExAC,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Ter	rs770093430	stop gained	-	NC_000004.12:g.123402007C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Leu	rs770093430	missense variant	-	NC_000004.12:g.123402007C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg143Thr	rs1156252534	missense variant	-	NC_000004.12:g.123402019G>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro144Leu	rs180866016	missense variant	-	NC_000004.12:g.123402022C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro144Ser	rs763166544	missense variant	-	NC_000004.12:g.123402021C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro144Arg	rs180866016	missense variant	-	NC_000004.12:g.123402022C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Ala	rs767775969	missense variant	-	NC_000004.12:g.123402027C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Thr	rs767775969	missense variant	-	NC_000004.12:g.123402027C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Leu	rs756921979	missense variant	-	NC_000004.12:g.123402028C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly147Asp	rs764915721	missense variant	-	NC_000004.12:g.123402031G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Arg	rs750042701	missense variant	-	NC_000004.12:g.123402034A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Leu	rs750042701	missense variant	-	NC_000004.12:g.123402034A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg149Ser	rs779563071	missense variant	-	NC_000004.12:g.123402038G>C	ExAC
SPRY1	O43609	p.Ser150Phe	rs746928184	missense variant	-	NC_000004.12:g.123402040C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala153Thr	rs1467473390	missense variant	-	NC_000004.12:g.123402048G>A	gnomAD
SPRY1	O43609	p.Ile154Phe	rs374766594	missense variant	-	NC_000004.12:g.123402051A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gln	rs769682383	missense variant	-	NC_000004.12:g.123402055G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Pro	rs769682383	missense variant	-	NC_000004.12:g.123402055G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Trp	rs780874264	missense variant	-	NC_000004.12:g.123402054C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gly	rs780874264	missense variant	-	NC_000004.12:g.123402054C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr156Ser	rs1306073221	missense variant	-	NC_000004.12:g.123402057A>T	TOPMed
SPRY1	O43609	p.Gln157Ter	rs773636932	stop gained	-	NC_000004.12:g.123402060C>T	ExAC,gnomAD
SPRY1	O43609	p.Gln157Lys	rs773636932	missense variant	-	NC_000004.12:g.123402060C>A	ExAC,gnomAD
SPRY1	O43609	p.Pro158Leu	rs1179227790	missense variant	-	NC_000004.12:g.123402064C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro158Thr	rs143726437	missense variant	-	NC_000004.12:g.123402063C>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Lys159Glu	rs774421542	missense variant	-	NC_000004.12:g.123402066A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile162Met	rs759990917	missense variant	-	NC_000004.12:g.123402077T>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>G	gnomAD
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>A	gnomAD
SPRY1	O43609	p.Asp164Asn	rs143661919	missense variant	-	NC_000004.12:g.123402081G>A	ESP,ExAC,TOPMed
SPRY1	O43609	p.Asp165Asn	rs1057124012	missense variant	-	NC_000004.12:g.123402084G>A	TOPMed,gnomAD
SPRY1	O43609	p.Leu166Phe	rs920304696	missense variant	-	NC_000004.12:g.123402089G>C	gnomAD
SPRY1	O43609	p.Gly168Ser	rs764433677	missense variant	-	NC_000004.12:g.123402093G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Cys	rs764433677	missense variant	-	NC_000004.12:g.123402093G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Arg	rs764433677	missense variant	-	NC_000004.12:g.123402093G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys171Arg	rs1313426473	missense variant	-	NC_000004.12:g.123402103A>G	gnomAD
SPRY1	O43609	p.Asp173Gly	rs750092496	missense variant	-	NC_000004.12:g.123402109A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp173Asn	rs1437329042	missense variant	-	NC_000004.12:g.123402108G>A	gnomAD
SPRY1	O43609	p.Leu174Pro	rs1233487324	missense variant	-	NC_000004.12:g.123402112T>C	gnomAD
SPRY1	O43609	p.Thr175Ile	rs1274994954	missense variant	-	NC_000004.12:g.123402115C>T	TOPMed,gnomAD
SPRY1	O43609	p.His177Tyr	rs906180815	missense variant	-	NC_000004.12:g.123402120C>T	-
SPRY1	O43609	p.His177Pro	rs369944717	missense variant	-	NC_000004.12:g.123402121A>C	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His177Gln	rs1271914621	missense variant	-	NC_000004.12:g.123402122C>G	gnomAD
SPRY1	O43609	p.Lys178Asn	rs781231015	missense variant	-	NC_000004.12:g.123402125G>C	ExAC,gnomAD
SPRY1	O43609	p.Lys178Arg	rs754426228	missense variant	-	NC_000004.12:g.123402124A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Phe179Leu	rs1250628278	missense variant	-	NC_000004.12:g.123402128C>G	gnomAD
SPRY1	O43609	p.Cys181Trp	rs1453055762	missense variant	-	NC_000004.12:g.123402134T>G	gnomAD
SPRY1	O43609	p.Gln183His	rs1391165635	missense variant	-	NC_000004.12:g.123402140G>C	gnomAD
SPRY1	O43609	p.Gln183Ter	rs752678914	stop gained	-	NC_000004.12:g.123402138C>T	ExAC,gnomAD
SPRY1	O43609	p.Gly185Arg	rs756030670	missense variant	-	NC_000004.12:g.123402144G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly185Glu	rs902343752	missense variant	-	NC_000004.12:g.123402145G>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys187Phe	rs1395990676	missense variant	-	NC_000004.12:g.123402151G>T	gnomAD
SPRY1	O43609	p.Lys188Asn	rs760600305	missense variant	-	NC_000004.12:g.123402155G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys188Thr	rs201051198	missense variant	-	NC_000004.12:g.123402154A>C	TOPMed,gnomAD
SPRY1	O43609	p.Lys188Arg	rs201051198	missense variant	-	NC_000004.12:g.123402154A>G	TOPMed,gnomAD
SPRY1	O43609	p.Lys188Gln	rs369289367	missense variant	-	NC_000004.12:g.123402153A>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly190Arg	rs1440072165	missense variant	-	NC_000004.12:g.123402159G>A	gnomAD
SPRY1	O43609	p.Gly190Glu	rs771143455	missense variant	-	NC_000004.12:g.123402160G>A	ExAC,gnomAD
SPRY1	O43609	p.Glu191Ala	rs1053558732	missense variant	-	NC_000004.12:g.123402163A>C	TOPMed
SPRY1	O43609	p.Thr193Ile	rs1225022544	missense variant	-	NC_000004.12:g.123402169C>T	TOPMed,gnomAD
SPRY1	O43609	p.Thr193Ala	rs1359961735	missense variant	-	NC_000004.12:g.123402168A>G	TOPMed
SPRY1	O43609	p.Ala194Val	rs889670911	missense variant	-	NC_000004.12:g.123402172C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro195Leu	rs772009773	missense variant	-	NC_000004.12:g.123402175C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser200Thr	rs769018060	missense variant	-	NC_000004.12:g.123402189T>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu202Ter	rs376045682	stop gained	-	NC_000004.12:g.123402196T>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Leu202Val	rs768635986	missense variant	-	NC_000004.12:g.123402195T>G	gnomAD
SPRY1	O43609	p.Leu202Ser	rs376045682	missense variant	-	NC_000004.12:g.123402196T>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Leu202Phe	rs766105212	missense variant	-	NC_000004.12:g.123402197G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys204Tyr	rs151050902	missense variant	-	NC_000004.12:g.123402202G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn205His	rs759152061	missense variant	-	NC_000004.12:g.123402204A>C	ExAC,gnomAD
SPRY1	O43609	p.Arg206Gln	rs752693554	missense variant	-	NC_000004.12:g.123402208G>A	ExAC,gnomAD
SPRY1	O43609	p.Arg206Trp	rs1461030673	missense variant	-	NC_000004.12:g.123402207C>T	gnomAD
SPRY1	O43609	p.Cys208Tyr	rs1244091949	missense variant	-	NC_000004.12:g.123402214G>A	gnomAD
SPRY1	O43609	p.Leu209Phe	rs1390698144	missense variant	-	NC_000004.12:g.123402216C>T	TOPMed,gnomAD
SPRY1	O43609	p.Cys210Phe	rs1188023727	missense variant	-	NC_000004.12:g.123402220G>T	TOPMed
SPRY1	O43609	p.Ser211Cys	rs1475845838	missense variant	-	NC_000004.12:g.123402223C>G	TOPMed
SPRY1	O43609	p.Ser211Ala	rs140988860	missense variant	-	NC_000004.12:g.123402222T>G	ESP
SPRY1	O43609	p.Ser214Cys	rs1380483994	missense variant	-	NC_000004.12:g.123402231A>T	TOPMed,gnomAD
SPRY1	O43609	p.Met215Val	rs756048915	missense variant	-	NC_000004.12:g.123402234A>G	ExAC,gnomAD
SPRY1	O43609	p.Glu217Lys	rs1252185076	missense variant	-	NC_000004.12:g.123402240G>A	TOPMed
SPRY1	O43609	p.Cys221Tyr	rs777739648	missense variant	-	NC_000004.12:g.123402253G>A	ExAC,gnomAD
SPRY1	O43609	p.Ile228Met	rs145077253	missense variant	-	NC_000004.12:g.123402275C>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Phe229Leu	rs1305972600	missense variant	-	NC_000004.12:g.123402278C>G	TOPMed
SPRY1	O43609	p.Ser233Pro	rs779233192	missense variant	-	NC_000004.12:g.123402288T>C	ExAC,gnomAD
SPRY1	O43609	p.Asn234Asp	rs746069665	missense variant	-	NC_000004.12:g.123402291A>G	ExAC,gnomAD
SPRY1	O43609	p.Asn234Ser	rs772249078	missense variant	-	NC_000004.12:g.123402292A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp235Gly	rs780045221	missense variant	-	NC_000004.12:g.123402295A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp236Tyr	rs1190299190	missense variant	-	NC_000004.12:g.123402297G>T	gnomAD
SPRY1	O43609	p.Glu237Lys	rs142173292	missense variant	-	NC_000004.12:g.123402300G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly238Arg	rs777102609	missense variant	-	NC_000004.12:g.123402303G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr241Cys	rs762280661	missense variant	-	NC_000004.12:g.123402313A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp243Ala	rs1451455343	missense variant	-	NC_000004.12:g.123402319A>C	gnomAD
SPRY1	O43609	p.Asn244Lys	rs774111531	missense variant	-	NC_000004.12:g.123402323T>G	ExAC,gnomAD
SPRY1	O43609	p.Pro245Leu	rs866445691	missense variant	-	NC_000004.12:g.123402325C>T	TOPMed
SPRY1	O43609	p.Ser247Cys	rs1299652485	missense variant	-	NC_000004.12:g.123402331C>G	TOPMed
SPRY1	O43609	p.Cys248Arg	rs752212870	missense variant	-	NC_000004.12:g.123402333T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His252Tyr	rs753793837	missense variant	-	NC_000004.12:g.123402345C>T	ExAC,gnomAD
SPRY1	O43609	p.Cys254Tyr	rs764924905	missense variant	-	NC_000004.12:g.123402352G>A	ExAC,gnomAD
SPRY1	O43609	p.Cys254Ter	rs750666163	stop gained	-	NC_000004.12:g.123402353C>A	ExAC,gnomAD
SPRY1	O43609	p.Cys254Trp	rs750666163	missense variant	-	NC_000004.12:g.123402353C>G	ExAC,gnomAD
SPRY1	O43609	p.Ser255Phe	rs374261636	missense variant	-	NC_000004.12:g.123402355C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser255Cys	rs374261636	missense variant	-	NC_000004.12:g.123402355C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg256Thr	rs755021441	missense variant	-	NC_000004.12:g.123402358G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr257Cys	rs1485436325	missense variant	-	NC_000004.12:g.123402361A>G	gnomAD
SPRY1	O43609	p.Gly261Val	rs781715595	missense variant	-	NC_000004.12:g.123402373G>T	ExAC,gnomAD
SPRY1	O43609	p.Ala262Val	rs770209344	missense variant	-	NC_000004.12:g.123402376C>T	ExAC,gnomAD
SPRY1	O43609	p.Met263Ile	rs1436527566	missense variant	-	NC_000004.12:g.123402380G>A	gnomAD
SPRY1	O43609	p.Met263Val	rs773382084	missense variant	-	NC_000004.12:g.123402378A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser264Phe	rs745565941	missense variant	-	NC_000004.12:g.123402382C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys269Trp	rs775260056	missense variant	-	NC_000004.12:g.123402398C>G	ExAC,gnomAD
SPRY1	O43609	p.Leu271Phe	rs1179286977	missense variant	-	NC_000004.12:g.123402402C>T	TOPMed
SPRY1	O43609	p.Pro274Leu	rs760299005	missense variant	-	NC_000004.12:g.123402412C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro274Ser	rs961876940	missense variant	-	NC_000004.12:g.123402411C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro274Arg	rs760299005	missense variant	-	NC_000004.12:g.123402412C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro275Ser	rs776763816	missense variant	-	NC_000004.12:g.123402414C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro275Leu	rs200878762	missense variant	-	NC_000004.12:g.123402415C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys277Glu	rs368008252	missense variant	-	NC_000004.12:g.123402420A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly278Arg	rs1301625850	missense variant	-	NC_000004.12:g.123402423G>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys279Tyr	rs750140832	missense variant	-	NC_000004.12:g.123402427G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys279Ser	rs750140832	missense variant	-	NC_000004.12:g.123402427G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu282Met	rs1374752156	missense variant	-	NC_000004.12:g.123402435C>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys283Arg	rs766629767	missense variant	-	NC_000004.12:g.123402438T>C	ExAC,gnomAD
SPRY1	O43609	p.Cys283Phe	rs751778456	missense variant	-	NC_000004.12:g.123402439G>T	ExAC
SPRY1	O43609	p.Cys286Ser	rs1268162395	missense variant	-	NC_000004.12:g.123402448G>C	TOPMed,gnomAD
SPRY1	O43609	p.Cys286Arg	rs1389497430	missense variant	-	NC_000004.12:g.123402447T>C	TOPMed
SPRY1	O43609	p.Tyr287Ter	rs370375351	stop gained	-	NC_000004.12:g.123402452T>A	ESP,TOPMed
SPRY1	O43609	p.His291Leu	rs1191742583	missense variant	-	NC_000004.12:g.123402463A>T	gnomAD
SPRY1	O43609	p.His291Tyr	rs1442570144	missense variant	-	NC_000004.12:g.123402462C>T	TOPMed
SPRY1	O43609	p.Arg292His	rs748693044	missense variant	-	NC_000004.12:g.123402466G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly294Arg	rs1449897196	missense variant	-	NC_000004.12:g.123402471G>C	gnomAD
SPRY1	O43609	p.Arg296Lys	rs187259850	missense variant	-	NC_000004.12:g.123402478G>A	1000Genomes
SPRY1	O43609	p.Asn301Ser	rs756537678	missense variant	-	NC_000004.12:g.123402493A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr302Ala	rs367610616	missense variant	-	NC_000004.12:g.123402495A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr304His	rs1301960824	missense variant	-	NC_000004.12:g.123402501T>C	TOPMed,gnomAD
SPRY1	O43609	p.Tyr304Cys	rs1370688324	missense variant	-	NC_000004.12:g.123402502A>G	gnomAD
SPRY1	O43609	p.Cys305Ter	rs775346634	stop gained	-	NC_000004.12:g.123402506T>A	ExAC
SPRY1	O43609	p.Cys305Phe	rs771387469	missense variant	-	NC_000004.12:g.123402505G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys306Ter	rs746642537	stop gained	-	NC_000004.12:g.123402507A>T	ExAC
SPRY1	O43609	p.Leu307Pro	rs1298215244	missense variant	-	NC_000004.12:g.123402511T>C	gnomAD
SPRY1	O43609	p.Ser309Asn	rs768290759	missense variant	-	NC_000004.12:g.123402517G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser309Arg	rs1226970500	missense variant	-	NC_000004.12:g.123402518C>A	gnomAD
SPRY1	O43609	p.Cys310Trp	rs775967448	missense variant	-	NC_000004.12:g.123402521C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro311Ser	rs761837505	missense variant	-	NC_000004.12:g.123402522C>T	ExAC,gnomAD
SPRY1	O43609	p.Ser312Phe	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>T	TOPMed,gnomAD
SPRY1	O43609	p.Ser312Cys	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>G	TOPMed,gnomAD
SPRY1	O43609	p.Arg313Trp	rs765138425	missense variant	-	NC_000004.12:g.123402528C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg313Gln	rs773173631	missense variant	-	NC_000004.12:g.123402529G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln315Arg	rs766150666	missense variant	-	NC_000004.12:g.123402535A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln315Ter	rs762804313	stop gained	-	NC_000004.12:g.123402534C>T	ExAC,gnomAD
SPRY1	O43609	p.Ser319Ter	rs751794748	stop gained	-	NC_000004.12:g.123402547C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ter320Trp	rs528974183	stop lost	-	NC_000004.12:g.123402551A>G	1000Genomes
SPRY1	O43609	p.Asp2Tyr	rs1207370093	missense variant	-	NC_000004.12:g.123401595G>T	gnomAD
SPRY1	O43609	p.Pro3Leu	rs1261698204	missense variant	-	NC_000004.12:g.123401599C>T	gnomAD
SPRY1	O43609	p.Asn5Ser	rs778412478	missense variant	-	NC_000004.12:g.123401605A>G	ExAC,gnomAD
SPRY1	O43609	p.Gln6Lys	rs749729525	missense variant	-	NC_000004.12:g.123401607C>A	ExAC,gnomAD
SPRY1	O43609	p.Gln6Glu	rs749729525	missense variant	-	NC_000004.12:g.123401607C>G	ExAC,gnomAD
SPRY1	O43609	p.His7Tyr	rs905885817	missense variant	-	NC_000004.12:g.123401610C>T	TOPMed
SPRY1	O43609	p.His7Arg	rs774533854	missense variant	-	NC_000004.12:g.123401611A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser9Gly	rs1251466254	missense variant	-	NC_000004.12:g.123401616A>G	TOPMed
SPRY1	O43609	p.Gly10Asp	rs760438293	missense variant	-	NC_000004.12:g.123401620G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser12Leu	rs535040315	missense variant	-	NC_000004.12:g.123401626C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val15Leu	rs1402871564	missense variant	-	NC_000004.12:g.123401634G>T	gnomAD
SPRY1	O43609	p.Ile16Thr	rs761473092	missense variant	-	NC_000004.12:g.123401638T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln17Pro	rs1339659079	missense variant	-	NC_000004.12:g.123401641A>C	gnomAD
SPRY1	O43609	p.Pro19Ala	rs971313977	missense variant	-	NC_000004.12:g.123401646C>G	gnomAD
SPRY1	O43609	p.Ser20Pro	rs766226331	missense variant	-	NC_000004.12:g.123401649T>C	ExAC,gnomAD
SPRY1	O43609	p.Asp22Glu	rs1035810825	missense variant	-	NC_000004.12:g.123401657T>A	TOPMed,gnomAD
SPRY1	O43609	p.Ser23Arg	rs371347844	missense variant	-	NC_000004.12:g.123401660C>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Arg24Cys	rs755205655	missense variant	-	NC_000004.12:g.123401661C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Ser	rs755205655	missense variant	-	NC_000004.12:g.123401661C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24Gly	rs755205655	missense variant	-	NC_000004.12:g.123401661C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg24His	rs201409774	missense variant	-	NC_000004.12:g.123401662G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg26Thr	rs756227593	missense variant	-	NC_000004.12:g.123401668G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu27Ser	rs1020791706	missense variant	-	NC_000004.12:g.123401671T>C	TOPMed,gnomAD
SPRY1	O43609	p.Tyr29Cys	rs141161959	missense variant	-	NC_000004.12:g.123401677A>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr29Phe	rs141161959	missense variant	-	NC_000004.12:g.123401677A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu30Lys	rs979389180	missense variant	-	NC_000004.12:g.123401679G>A	TOPMed,gnomAD
SPRY1	O43609	p.Arg31Lys	rs757634424	missense variant	-	NC_000004.12:g.123401683G>A	ExAC,gnomAD
SPRY1	O43609	p.Glu32Gln	rs146763160	missense variant	-	NC_000004.12:g.123401685G>C	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Glu32Gly	rs746288824	missense variant	-	NC_000004.12:g.123401686A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile33Val	rs1032412417	missense variant	-	NC_000004.12:g.123401688A>G	TOPMed,gnomAD
SPRY1	O43609	p.Gln34Arg	rs776496321	missense variant	-	NC_000004.12:g.123401692A>G	ExAC
SPRY1	O43609	p.Gln34Lys	rs772538327	missense variant	-	NC_000004.12:g.123401691C>A	ExAC,gnomAD
SPRY1	O43609	p.Pro35Ser	rs1437056441	missense variant	-	NC_000004.12:g.123401694C>T	TOPMed
SPRY1	O43609	p.Pro35Leu	rs1393731697	missense variant	-	NC_000004.12:g.123401695C>T	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1173393898	missense variant	-	NC_000004.12:g.123401698C>G	TOPMed
SPRY1	O43609	p.Thr36Ser	rs1309434500	missense variant	-	NC_000004.12:g.123401697A>T	gnomAD
SPRY1	O43609	p.Ala37Thr	rs115106991	missense variant	-	NC_000004.12:g.123401700G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile38Val	rs769362140	missense variant	-	NC_000004.12:g.123401703A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile38Ser	rs772531944	missense variant	-	NC_000004.12:g.123401704T>G	ExAC,gnomAD
SPRY1	O43609	p.Lys45Asn	rs1236068649	missense variant	-	NC_000004.12:g.123401726G>C	gnomAD
SPRY1	O43609	p.Ala46Ser	rs376428204	missense variant	-	NC_000004.12:g.123401727G>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Val	rs759365951	missense variant	-	NC_000004.12:g.123401730A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ile47Leu	rs759365951	missense variant	-	NC_000004.12:g.123401730A>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg48Lys	rs537774102	missense variant	-	NC_000004.12:g.123401734G>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Gly49Ser	rs752972858	missense variant	-	NC_000004.12:g.123401736G>A	ExAC,gnomAD
SPRY1	O43609	p.Ser50Arg	rs557398664	missense variant	-	NC_000004.12:g.123401741C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn51Ser	rs764236200	missense variant	-	NC_000004.12:g.123401743A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu52Gln	rs757800382	missense variant	-	NC_000004.12:g.123401745G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu55Lys	rs181355842	missense variant	-	NC_000004.12:g.123401754G>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser58Leu	rs746376752	missense variant	-	NC_000004.12:g.123401764C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Val59Met	rs780510324	missense variant	-	NC_000004.12:g.123401766G>A	ExAC,gnomAD
SPRY1	O43609	p.Val60Leu	rs747809146	missense variant	-	NC_000004.12:g.123401769G>C	ExAC,gnomAD
SPRY1	O43609	p.Pro63Leu	rs147613282	missense variant	-	NC_000004.12:g.123401779C>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro63Ser	rs772802512	missense variant	-	NC_000004.12:g.123401778C>T	ExAC
SPRY1	O43609	p.Ala64Val	rs1402626301	missense variant	-	NC_000004.12:g.123401782C>T	gnomAD
SPRY1	O43609	p.Pro65Ala	rs770444253	missense variant	-	NC_000004.12:g.123401784C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro65Leu	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro65Arg	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>G	TOPMed,gnomAD
SPRY1	O43609	p.Pro65His	rs1370855364	missense variant	-	NC_000004.12:g.123401785C>A	TOPMed,gnomAD
SPRY1	O43609	p.Arg66Trp	rs745654554	missense variant	-	NC_000004.12:g.123401787C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gly	rs745654554	missense variant	-	NC_000004.12:g.123401787C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg66Gln	rs140546097	missense variant	-	NC_000004.12:g.123401788G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ser	rs760985314	missense variant	-	NC_000004.12:g.123401796C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Arg	rs754063951	missense variant	-	NC_000004.12:g.123401797C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Leu	rs754063951	missense variant	-	NC_000004.12:g.123401797C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro69Ala	rs760985314	missense variant	-	NC_000004.12:g.123401796C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg70Lys	rs1252472220	missense variant	-	NC_000004.12:g.123401800G>A	gnomAD
SPRY1	O43609	p.Lys73Gln	rs761868969	missense variant	-	NC_000004.12:g.123401808A>C	ExAC,gnomAD
SPRY1	O43609	p.His74Arg	rs750983063	missense variant	-	NC_000004.12:g.123401812A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His74Asn	rs765397031	missense variant	-	NC_000004.12:g.123401811C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His78Gln	rs1293612685	missense variant	-	NC_000004.12:g.123401825T>G	gnomAD
SPRY1	O43609	p.Ile81Thr	rs1333725638	missense variant	-	NC_000004.12:g.123401833T>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro82Ser	rs780598099	missense variant	-	NC_000004.12:g.123401835C>T	ExAC,gnomAD
SPRY1	O43609	p.Ile83Val	rs1231136079	missense variant	-	NC_000004.12:g.123401838A>G	TOPMed,gnomAD
SPRY1	O43609	p.Asn87Asp	rs373671065	missense variant	-	NC_000004.12:g.123401850A>G	ESP,TOPMed
SPRY1	O43609	p.Tyr89Cys	rs376949828	missense variant	-	NC_000004.12:g.123401857A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Glu90Asp	rs770404936	missense variant	-	NC_000004.12:g.123401861G>C	ExAC,gnomAD
SPRY1	O43609	p.Glu90Lys	rs1337971722	missense variant	-	NC_000004.12:g.123401859G>A	TOPMed
SPRY1	O43609	p.His91Arg	rs370896287	missense variant	-	NC_000004.12:g.123401863A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Thr94Ile	rs542203833	missense variant	-	NC_000004.12:g.123401872C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr94Lys	rs542203833	missense variant	-	NC_000004.12:g.123401872C>A	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly98Glu	rs374319181	missense variant	-	NC_000004.12:g.123401884G>A	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala100Glu	rs1251272686	missense variant	-	NC_000004.12:g.123401890C>A	gnomAD
SPRY1	O43609	p.Val101Gly	rs1177711939	missense variant	-	NC_000004.12:g.123401893T>G	TOPMed
SPRY1	O43609	p.Ser104Gly	rs762040198	missense variant	-	NC_000004.12:g.123401901A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala106Val	rs765414706	missense variant	-	NC_000004.12:g.123401908C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala106Asp	rs765414706	missense variant	-	NC_000004.12:g.123401908C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg107Lys	rs1190528580	missense variant	-	NC_000004.12:g.123401911G>A	gnomAD
SPRY1	O43609	p.Arg107Gly	rs1415724393	missense variant	-	NC_000004.12:g.123401910A>G	gnomAD
SPRY1	O43609	p.Gly108Val	rs763577838	missense variant	-	NC_000004.12:g.123401914G>T	ExAC,gnomAD
SPRY1	O43609	p.Gly108Arg	rs1421632582	missense variant	-	NC_000004.12:g.123401913G>C	gnomAD
SPRY1	O43609	p.Ile110Val	rs1412044700	missense variant	-	NC_000004.12:g.123401919A>G	gnomAD
SPRY1	O43609	p.Leu111Phe	rs767043237	missense variant	-	NC_000004.12:g.123401924G>C	ExAC,gnomAD
SPRY1	O43609	p.Arg113Lys	rs752075165	missense variant	-	NC_000004.12:g.123401929G>A	ExAC,gnomAD
SPRY1	O43609	p.Arg113Thr	rs752075165	missense variant	-	NC_000004.12:g.123401929G>C	ExAC,gnomAD
SPRY1	O43609	p.Thr115Ala	rs755365213	missense variant	-	NC_000004.12:g.123401934A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr115Ser	rs755365213	missense variant	-	NC_000004.12:g.123401934A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser116Gly	rs753444242	missense variant	-	NC_000004.12:g.123401937A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser116Thr	rs1022301262	missense variant	-	NC_000004.12:g.123401938G>C	gnomAD
SPRY1	O43609	p.Thr117Ser	rs756834122	missense variant	-	NC_000004.12:g.123401940A>T	ExAC,gnomAD
SPRY1	O43609	p.Gly118Val	rs1211384338	missense variant	-	NC_000004.12:g.123401944G>T	TOPMed
SPRY1	O43609	p.Ser122Asn	rs778423708	missense variant	-	NC_000004.12:g.123401956G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly124Glu	rs745330327	missense variant	-	NC_000004.12:g.123401962G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly124Trp	rs1292973248	missense variant	-	NC_000004.12:g.123401961G>T	TOPMed,gnomAD
SPRY1	O43609	p.Asn126Ser	rs1307932630	missense variant	-	NC_000004.12:g.123401968A>G	-
SPRY1	O43609	p.Ser127Gly	rs757878449	missense variant	-	NC_000004.12:g.123401970A>G	ExAC,gnomAD
SPRY1	O43609	p.Ser128Gly	rs780002408	missense variant	-	NC_000004.12:g.123401973A>G	ExAC,gnomAD
SPRY1	O43609	p.Ala129Val	rs1224884461	missense variant	-	NC_000004.12:g.123401977C>T	TOPMed
SPRY1	O43609	p.Glu132Gln	rs1210748083	missense variant	-	NC_000004.12:g.123401985G>C	gnomAD
SPRY1	O43609	p.Leu136Phe	rs368026966	missense variant	-	NC_000004.12:g.123401999A>T	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly137Val	rs748350968	missense variant	-	NC_000004.12:g.123402001G>T	ExAC,gnomAD
SPRY1	O43609	p.Gly137Arg	rs148920529	missense variant	-	NC_000004.12:g.123402000G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Ter	rs770093430	stop gained	-	NC_000004.12:g.123402007C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser139Leu	rs770093430	missense variant	-	NC_000004.12:g.123402007C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg143Thr	rs1156252534	missense variant	-	NC_000004.12:g.123402019G>C	TOPMed,gnomAD
SPRY1	O43609	p.Pro144Leu	rs180866016	missense variant	-	NC_000004.12:g.123402022C>T	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro144Ser	rs763166544	missense variant	-	NC_000004.12:g.123402021C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro144Arg	rs180866016	missense variant	-	NC_000004.12:g.123402022C>G	1000Genomes,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Ala	rs767775969	missense variant	-	NC_000004.12:g.123402027C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Thr	rs767775969	missense variant	-	NC_000004.12:g.123402027C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro146Leu	rs756921979	missense variant	-	NC_000004.12:g.123402028C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly147Asp	rs764915721	missense variant	-	NC_000004.12:g.123402031G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Arg	rs750042701	missense variant	-	NC_000004.12:g.123402034A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His148Leu	rs750042701	missense variant	-	NC_000004.12:g.123402034A>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg149Ser	rs779563071	missense variant	-	NC_000004.12:g.123402038G>C	ExAC
SPRY1	O43609	p.Ser150Phe	rs746928184	missense variant	-	NC_000004.12:g.123402040C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ala153Thr	rs1467473390	missense variant	-	NC_000004.12:g.123402048G>A	gnomAD
SPRY1	O43609	p.Ile154Phe	rs374766594	missense variant	-	NC_000004.12:g.123402051A>T	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Trp	rs780874264	missense variant	-	NC_000004.12:g.123402054C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gln	rs769682383	missense variant	-	NC_000004.12:g.123402055G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Pro	rs769682383	missense variant	-	NC_000004.12:g.123402055G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg155Gly	rs780874264	missense variant	-	NC_000004.12:g.123402054C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr156Ser	rs1306073221	missense variant	-	NC_000004.12:g.123402057A>T	TOPMed
SPRY1	O43609	p.Gln157Lys	rs773636932	missense variant	-	NC_000004.12:g.123402060C>A	ExAC,gnomAD
SPRY1	O43609	p.Gln157Ter	rs773636932	stop gained	-	NC_000004.12:g.123402060C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro158Leu	rs1179227790	missense variant	-	NC_000004.12:g.123402064C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro158Thr	rs143726437	missense variant	-	NC_000004.12:g.123402063C>A	1000Genomes,ExAC,gnomAD
SPRY1	O43609	p.Lys159Glu	rs774421542	missense variant	-	NC_000004.12:g.123402066A>G	ExAC,gnomAD
SPRY1	O43609	p.Ile162Met	rs759990917	missense variant	-	NC_000004.12:g.123402077T>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>A	gnomAD
SPRY1	O43609	p.Asp164Asn	rs143661919	missense variant	-	NC_000004.12:g.123402081G>A	ESP,ExAC,TOPMed
SPRY1	O43609	p.Asp164Glu	rs1037464836	missense variant	-	NC_000004.12:g.123402083T>G	gnomAD
SPRY1	O43609	p.Asp165Asn	rs1057124012	missense variant	-	NC_000004.12:g.123402084G>A	TOPMed,gnomAD
SPRY1	O43609	p.Leu166Phe	rs920304696	missense variant	-	NC_000004.12:g.123402089G>C	gnomAD
SPRY1	O43609	p.Gly168Ser	rs764433677	missense variant	-	NC_000004.12:g.123402093G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Cys	rs764433677	missense variant	-	NC_000004.12:g.123402093G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gly168Arg	rs764433677	missense variant	-	NC_000004.12:g.123402093G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys171Arg	rs1313426473	missense variant	-	NC_000004.12:g.123402103A>G	gnomAD
SPRY1	O43609	p.Asp173Gly	rs750092496	missense variant	-	NC_000004.12:g.123402109A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp173Asn	rs1437329042	missense variant	-	NC_000004.12:g.123402108G>A	gnomAD
SPRY1	O43609	p.Leu174Pro	rs1233487324	missense variant	-	NC_000004.12:g.123402112T>C	gnomAD
SPRY1	O43609	p.Thr175Ile	rs1274994954	missense variant	-	NC_000004.12:g.123402115C>T	TOPMed,gnomAD
SPRY1	O43609	p.His177Pro	rs369944717	missense variant	-	NC_000004.12:g.123402121A>C	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His177Tyr	rs906180815	missense variant	-	NC_000004.12:g.123402120C>T	-
SPRY1	O43609	p.His177Gln	rs1271914621	missense variant	-	NC_000004.12:g.123402122C>G	gnomAD
SPRY1	O43609	p.Lys178Arg	rs754426228	missense variant	-	NC_000004.12:g.123402124A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys178Asn	rs781231015	missense variant	-	NC_000004.12:g.123402125G>C	ExAC,gnomAD
SPRY1	O43609	p.Phe179Leu	rs1250628278	missense variant	-	NC_000004.12:g.123402128C>G	gnomAD
SPRY1	O43609	p.Cys181Trp	rs1453055762	missense variant	-	NC_000004.12:g.123402134T>G	gnomAD
SPRY1	O43609	p.Gln183His	rs1391165635	missense variant	-	NC_000004.12:g.123402140G>C	gnomAD
SPRY1	O43609	p.Gln183Ter	rs752678914	stop gained	-	NC_000004.12:g.123402138C>T	ExAC,gnomAD
SPRY1	O43609	p.Gly185Arg	rs756030670	missense variant	-	NC_000004.12:g.123402144G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly185Glu	rs902343752	missense variant	-	NC_000004.12:g.123402145G>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys187Phe	rs1395990676	missense variant	-	NC_000004.12:g.123402151G>T	gnomAD
SPRY1	O43609	p.Lys188Thr	rs201051198	missense variant	-	NC_000004.12:g.123402154A>C	TOPMed,gnomAD
SPRY1	O43609	p.Lys188Asn	rs760600305	missense variant	-	NC_000004.12:g.123402155G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys188Arg	rs201051198	missense variant	-	NC_000004.12:g.123402154A>G	TOPMed,gnomAD
SPRY1	O43609	p.Lys188Gln	rs369289367	missense variant	-	NC_000004.12:g.123402153A>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly190Arg	rs1440072165	missense variant	-	NC_000004.12:g.123402159G>A	gnomAD
SPRY1	O43609	p.Gly190Glu	rs771143455	missense variant	-	NC_000004.12:g.123402160G>A	ExAC,gnomAD
SPRY1	O43609	p.Glu191Ala	rs1053558732	missense variant	-	NC_000004.12:g.123402163A>C	TOPMed
SPRY1	O43609	p.Thr193Ile	rs1225022544	missense variant	-	NC_000004.12:g.123402169C>T	TOPMed,gnomAD
SPRY1	O43609	p.Thr193Ala	rs1359961735	missense variant	-	NC_000004.12:g.123402168A>G	TOPMed
SPRY1	O43609	p.Ala194Val	rs889670911	missense variant	-	NC_000004.12:g.123402172C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro195Leu	rs772009773	missense variant	-	NC_000004.12:g.123402175C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser200Thr	rs769018060	missense variant	-	NC_000004.12:g.123402189T>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu202Ter	rs376045682	stop gained	-	NC_000004.12:g.123402196T>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Leu202Phe	rs766105212	missense variant	-	NC_000004.12:g.123402197G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu202Ser	rs376045682	missense variant	-	NC_000004.12:g.123402196T>C	ESP,ExAC,gnomAD
SPRY1	O43609	p.Leu202Val	rs768635986	missense variant	-	NC_000004.12:g.123402195T>G	gnomAD
SPRY1	O43609	p.Cys204Tyr	rs151050902	missense variant	-	NC_000004.12:g.123402202G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn205Lys	rs766923780	missense variant	-	NC_000004.12:g.123402206C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asn205His	rs759152061	missense variant	-	NC_000004.12:g.123402204A>C	ExAC,gnomAD
SPRY1	O43609	p.Arg206Gln	rs752693554	missense variant	-	NC_000004.12:g.123402208G>A	ExAC,gnomAD
SPRY1	O43609	p.Arg206Trp	rs1461030673	missense variant	-	NC_000004.12:g.123402207C>T	gnomAD
SPRY1	O43609	p.Cys208Tyr	rs1244091949	missense variant	-	NC_000004.12:g.123402214G>A	gnomAD
SPRY1	O43609	p.Leu209Phe	rs1390698144	missense variant	-	NC_000004.12:g.123402216C>T	TOPMed,gnomAD
SPRY1	O43609	p.Cys210Phe	rs1188023727	missense variant	-	NC_000004.12:g.123402220G>T	TOPMed
SPRY1	O43609	p.Ser211Cys	rs1475845838	missense variant	-	NC_000004.12:g.123402223C>G	TOPMed
SPRY1	O43609	p.Ser211Ala	rs140988860	missense variant	-	NC_000004.12:g.123402222T>G	ESP
SPRY1	O43609	p.Ser214Cys	rs1380483994	missense variant	-	NC_000004.12:g.123402231A>T	TOPMed,gnomAD
SPRY1	O43609	p.Met215Val	rs756048915	missense variant	-	NC_000004.12:g.123402234A>G	ExAC,gnomAD
SPRY1	O43609	p.Glu217Lys	rs1252185076	missense variant	-	NC_000004.12:g.123402240G>A	TOPMed
SPRY1	O43609	p.Cys221Tyr	rs777739648	missense variant	-	NC_000004.12:g.123402253G>A	ExAC,gnomAD
SPRY1	O43609	p.Ile228Met	rs145077253	missense variant	-	NC_000004.12:g.123402275C>G	ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Phe229Leu	rs1305972600	missense variant	-	NC_000004.12:g.123402278C>G	TOPMed
SPRY1	O43609	p.Ser233Pro	rs779233192	missense variant	-	NC_000004.12:g.123402288T>C	ExAC,gnomAD
SPRY1	O43609	p.Asn234Ser	rs772249078	missense variant	-	NC_000004.12:g.123402292A>G	ExAC,gnomAD
SPRY1	O43609	p.Asn234Asp	rs746069665	missense variant	-	NC_000004.12:g.123402291A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp235Gly	rs780045221	missense variant	-	NC_000004.12:g.123402295A>G	ExAC,gnomAD
SPRY1	O43609	p.Asp236Tyr	rs1190299190	missense variant	-	NC_000004.12:g.123402297G>T	gnomAD
SPRY1	O43609	p.Glu237Lys	rs142173292	missense variant	-	NC_000004.12:g.123402300G>A	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly238Arg	rs777102609	missense variant	-	NC_000004.12:g.123402303G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr241Cys	rs762280661	missense variant	-	NC_000004.12:g.123402313A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Asp243Ala	rs1451455343	missense variant	-	NC_000004.12:g.123402319A>C	gnomAD
SPRY1	O43609	p.Asn244Lys	rs774111531	missense variant	-	NC_000004.12:g.123402323T>G	ExAC,gnomAD
SPRY1	O43609	p.Pro245Leu	rs866445691	missense variant	-	NC_000004.12:g.123402325C>T	TOPMed
SPRY1	O43609	p.Ser247Cys	rs1299652485	missense variant	-	NC_000004.12:g.123402331C>G	TOPMed
SPRY1	O43609	p.Cys248Arg	rs752212870	missense variant	-	NC_000004.12:g.123402333T>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.His252Tyr	rs753793837	missense variant	-	NC_000004.12:g.123402345C>T	ExAC,gnomAD
SPRY1	O43609	p.Cys254Tyr	rs764924905	missense variant	-	NC_000004.12:g.123402352G>A	ExAC,gnomAD
SPRY1	O43609	p.Cys254Ter	rs750666163	stop gained	-	NC_000004.12:g.123402353C>A	ExAC,gnomAD
SPRY1	O43609	p.Cys254Trp	rs750666163	missense variant	-	NC_000004.12:g.123402353C>G	ExAC,gnomAD
SPRY1	O43609	p.Ser255Cys	rs374261636	missense variant	-	NC_000004.12:g.123402355C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser255Phe	rs374261636	missense variant	-	NC_000004.12:g.123402355C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg256Thr	rs755021441	missense variant	-	NC_000004.12:g.123402358G>C	ExAC,gnomAD
SPRY1	O43609	p.Tyr257Cys	rs1485436325	missense variant	-	NC_000004.12:g.123402361A>G	gnomAD
SPRY1	O43609	p.Gly261Val	rs781715595	missense variant	-	NC_000004.12:g.123402373G>T	ExAC,gnomAD
SPRY1	O43609	p.Ala262Val	rs770209344	missense variant	-	NC_000004.12:g.123402376C>T	ExAC,gnomAD
SPRY1	O43609	p.Met263Ile	rs1436527566	missense variant	-	NC_000004.12:g.123402380G>A	gnomAD
SPRY1	O43609	p.Met263Val	rs773382084	missense variant	-	NC_000004.12:g.123402378A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser264Phe	rs745565941	missense variant	-	NC_000004.12:g.123402382C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys269Trp	rs775260056	missense variant	-	NC_000004.12:g.123402398C>G	ExAC,gnomAD
SPRY1	O43609	p.Leu271Phe	rs1179286977	missense variant	-	NC_000004.12:g.123402402C>T	TOPMed
SPRY1	O43609	p.Pro274Leu	rs760299005	missense variant	-	NC_000004.12:g.123402412C>T	ExAC,gnomAD
SPRY1	O43609	p.Pro274Ser	rs961876940	missense variant	-	NC_000004.12:g.123402411C>T	TOPMed,gnomAD
SPRY1	O43609	p.Pro274Arg	rs760299005	missense variant	-	NC_000004.12:g.123402412C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro275Ser	rs776763816	missense variant	-	NC_000004.12:g.123402414C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Pro275Leu	rs200878762	missense variant	-	NC_000004.12:g.123402415C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Lys277Glu	rs368008252	missense variant	-	NC_000004.12:g.123402420A>G	ESP,ExAC,gnomAD
SPRY1	O43609	p.Gly278Arg	rs1301625850	missense variant	-	NC_000004.12:g.123402423G>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys279Tyr	rs750140832	missense variant	-	NC_000004.12:g.123402427G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys279Ser	rs750140832	missense variant	-	NC_000004.12:g.123402427G>C	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Leu282Met	rs1374752156	missense variant	-	NC_000004.12:g.123402435C>A	TOPMed,gnomAD
SPRY1	O43609	p.Cys283Arg	rs766629767	missense variant	-	NC_000004.12:g.123402438T>C	ExAC,gnomAD
SPRY1	O43609	p.Cys283Phe	rs751778456	missense variant	-	NC_000004.12:g.123402439G>T	ExAC
SPRY1	O43609	p.Cys286Ser	rs1268162395	missense variant	-	NC_000004.12:g.123402448G>C	TOPMed,gnomAD
SPRY1	O43609	p.Cys286Arg	rs1389497430	missense variant	-	NC_000004.12:g.123402447T>C	TOPMed
SPRY1	O43609	p.Tyr287Ter	rs370375351	stop gained	-	NC_000004.12:g.123402452T>A	ESP,TOPMed
SPRY1	O43609	p.His291Leu	rs1191742583	missense variant	-	NC_000004.12:g.123402463A>T	gnomAD
SPRY1	O43609	p.His291Tyr	rs1442570144	missense variant	-	NC_000004.12:g.123402462C>T	TOPMed
SPRY1	O43609	p.Arg292His	rs748693044	missense variant	-	NC_000004.12:g.123402466G>A	ExAC,gnomAD
SPRY1	O43609	p.Gly294Arg	rs1449897196	missense variant	-	NC_000004.12:g.123402471G>C	gnomAD
SPRY1	O43609	p.Arg296Lys	rs187259850	missense variant	-	NC_000004.12:g.123402478G>A	1000Genomes
SPRY1	O43609	p.Asn301Ser	rs756537678	missense variant	-	NC_000004.12:g.123402493A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Thr302Ala	rs367610616	missense variant	-	NC_000004.12:g.123402495A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Tyr304His	rs1301960824	missense variant	-	NC_000004.12:g.123402501T>C	TOPMed,gnomAD
SPRY1	O43609	p.Tyr304Cys	rs1370688324	missense variant	-	NC_000004.12:g.123402502A>G	gnomAD
SPRY1	O43609	p.Cys305Phe	rs771387469	missense variant	-	NC_000004.12:g.123402505G>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Cys305Ter	rs775346634	stop gained	-	NC_000004.12:g.123402506T>A	ExAC
SPRY1	O43609	p.Lys306Ter	rs746642537	stop gained	-	NC_000004.12:g.123402507A>T	ExAC
SPRY1	O43609	p.Leu307Pro	rs1298215244	missense variant	-	NC_000004.12:g.123402511T>C	gnomAD
SPRY1	O43609	p.Ser309Asn	rs768290759	missense variant	-	NC_000004.12:g.123402517G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser309Arg	rs1226970500	missense variant	-	NC_000004.12:g.123402518C>A	gnomAD
SPRY1	O43609	p.Cys310Trp	rs775967448	missense variant	-	NC_000004.12:g.123402521C>G	ExAC,gnomAD
SPRY1	O43609	p.Pro311Ser	rs761837505	missense variant	-	NC_000004.12:g.123402522C>T	ExAC,gnomAD
SPRY1	O43609	p.Ser312Phe	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>T	TOPMed,gnomAD
SPRY1	O43609	p.Ser312Cys	rs1211718459	missense variant	-	NC_000004.12:g.123402526C>G	TOPMed,gnomAD
SPRY1	O43609	p.Arg313Gln	rs773173631	missense variant	-	NC_000004.12:g.123402529G>A	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Arg313Trp	rs765138425	missense variant	-	NC_000004.12:g.123402528C>T	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Gln315Ter	rs762804313	stop gained	-	NC_000004.12:g.123402534C>T	ExAC,gnomAD
SPRY1	O43609	p.Gln315Arg	rs766150666	missense variant	-	NC_000004.12:g.123402535A>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ser319Ter	rs751794748	stop gained	-	NC_000004.12:g.123402547C>G	ExAC,TOPMed,gnomAD
SPRY1	O43609	p.Ter320Trp	rs528974183	stop lost	-	NC_000004.12:g.123402551A>G	1000Genomes
SNAI2	O43623	p.Arg3Pro	COSM2718144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48921258C>G	NCI-TCGA Cosmic
SNAI2	O43623	p.Ser4Phe	rs546348236	missense variant	-	NC_000008.11:g.48921255G>A	1000Genomes
SNAI2	O43623	p.Val7Ile	rs769859276	missense variant	-	NC_000008.11:g.48921247C>T	ExAC,gnomAD
SNAI2	O43623	p.Lys8Asn	COSM1100353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48921242C>A	NCI-TCGA Cosmic
SNAI2	O43623	p.Lys9Arg	COSM3900502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48921240T>C	NCI-TCGA Cosmic
SNAI2	O43623	p.Asn12Asp	rs763952937	missense variant	-	NC_000008.11:g.48921232T>C	NCI-TCGA
SNAI2	O43623	p.Asn12Asp	rs763952937	missense variant	-	NC_000008.11:g.48921232T>C	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Asn12Ser	rs781159401	missense variant	-	NC_000008.11:g.48921231T>C	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Asn12Lys	rs754767647	missense variant	-	NC_000008.11:g.48921230G>C	ExAC,gnomAD
SNAI2	O43623	p.Ala13Val	rs149755644	missense variant	-	NC_000008.11:g.48921228G>A	ESP,gnomAD
SNAI2	O43623	p.Asn18Thr	rs1215764853	missense variant	-	NC_000008.11:g.48921213T>G	gnomAD
SNAI2	O43623	p.Tyr19Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.48921209G>C	NCI-TCGA
SNAI2	O43623	p.Glu21Lys	rs560825840	missense variant	-	NC_000008.11:g.48921205C>T	1000Genomes,ExAC,gnomAD
SNAI2	O43623	p.His25Gln	rs1277074927	missense variant	-	NC_000008.11:g.48921191A>C	TOPMed,gnomAD
SNAI2	O43623	p.Thr26Ala	rs1415310272	missense variant	-	NC_000008.11:g.48921190T>C	gnomAD
SNAI2	O43623	p.Ile28Ser	COSM1100352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920438A>C	NCI-TCGA Cosmic
SNAI2	O43623	p.Ser30Phe	COSM277403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920432G>A	NCI-TCGA Cosmic
SNAI2	O43623	p.Pro31Ser	COSM3900501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920430G>A	NCI-TCGA Cosmic
SNAI2	O43623	p.Pro31Leu	rs1207656642	missense variant	-	NC_000008.11:g.48920429G>A	TOPMed
SNAI2	O43623	p.Tyr32Asn	rs1010772676	missense variant	-	NC_000008.11:g.48920427A>T	TOPMed
SNAI2	O43623	p.Leu33Val	rs748128814	missense variant	-	NC_000008.11:g.48920424G>C	ExAC,gnomAD
SNAI2	O43623	p.Leu33Val	rs748128814	missense variant	-	NC_000008.11:g.48920424G>C	NCI-TCGA
SNAI2	O43623	p.Tyr34Cys	rs768624071	missense variant	-	NC_000008.11:g.48920420T>C	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Tyr34Ser	rs768624071	missense variant	-	NC_000008.11:g.48920420T>G	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Glu35Asp	rs746846227	missense variant	-	NC_000008.11:g.48920416C>G	ExAC,gnomAD
SNAI2	O43623	p.Tyr37Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.48920410G>T	NCI-TCGA
SNAI2	O43623	p.Ser38Cys	rs779831481	missense variant	-	NC_000008.11:g.48920408G>C	ExAC,gnomAD
SNAI2	O43623	p.Met39Thr	COSM3900500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920405A>G	NCI-TCGA Cosmic
SNAI2	O43623	p.Pro40Ser	rs891783277	missense variant	-	NC_000008.11:g.48920403G>A	TOPMed
SNAI2	O43623	p.Pro40Leu	rs1175916832	missense variant	-	NC_000008.11:g.48920402G>A	gnomAD
SNAI2	O43623	p.Pro40Ser	rs891783277	missense variant	-	NC_000008.11:g.48920403G>A	NCI-TCGA
SNAI2	O43623	p.Val41Ala	COSM1100351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920399A>G	NCI-TCGA Cosmic
SNAI2	O43623	p.Ile42Lys	rs1213724397	missense variant	-	NC_000008.11:g.48920396A>T	gnomAD
SNAI2	O43623	p.Pro43Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920394G>A	NCI-TCGA
SNAI2	O43623	p.Pro43Gln	COSM751319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920393G>T	NCI-TCGA Cosmic
SNAI2	O43623	p.Pro43Leu	rs757995996	missense variant	-	NC_000008.11:g.48920393G>A	ExAC,gnomAD
SNAI2	O43623	p.Pro43Thr	rs1469445385	missense variant	-	NC_000008.11:g.48920394G>T	gnomAD
SNAI2	O43623	p.Gln44Lys	RCV000299485	missense variant	Partial albinism (PBT)	NC_000008.11:g.48920391G>T	ClinVar
SNAI2	O43623	p.Gln44Lys	RCV000400781	missense variant	Waardenburg syndrome	NC_000008.11:g.48920391G>T	ClinVar
SNAI2	O43623	p.Gln44Lys	rs886062986	missense variant	-	NC_000008.11:g.48920391G>T	gnomAD
SNAI2	O43623	p.Ile47Ser	rs1277260069	missense variant	-	NC_000008.11:g.48920381A>C	gnomAD
SNAI2	O43623	p.Leu48Phe	rs750024548	missense variant	-	NC_000008.11:g.48920379G>A	ExAC
SNAI2	O43623	p.Ser49Asn	rs79619080	missense variant	-	NC_000008.11:g.48920375C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ser50Leu	rs756797339	missense variant	-	NC_000008.11:g.48920372G>A	ExAC,gnomAD
SNAI2	O43623	p.Gly51Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920369C>T	NCI-TCGA
SNAI2	O43623	p.Ala52Glu	COSM3900499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920366G>T	NCI-TCGA Cosmic
SNAI2	O43623	p.Ala52Thr	rs753326846	missense variant	-	NC_000008.11:g.48920367C>T	ExAC,gnomAD
SNAI2	O43623	p.Pro55Ala	rs1450132140	missense variant	-	NC_000008.11:g.48920358G>C	TOPMed,gnomAD
SNAI2	O43623	p.Ile56Asn	rs1443142509	missense variant	-	NC_000008.11:g.48920354A>T	gnomAD
SNAI2	O43623	p.Thr57Ser	rs746436655	missense variant	-	NC_000008.11:g.48920352T>A	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Pro64Arg	rs1438797146	missense variant	-	NC_000008.11:g.48920330G>C	TOPMed
SNAI2	O43623	p.Ala67Asp	COSM6180839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920321G>T	NCI-TCGA Cosmic
SNAI2	O43623	p.Ala67Ser	rs367909953	missense variant	-	NC_000008.11:g.48920322C>A	ESP,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ala67Thr	rs367909953	missense variant	-	NC_000008.11:g.48920322C>T	ESP,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ala67Val	rs1387214058	missense variant	-	NC_000008.11:g.48920321G>A	TOPMed
SNAI2	O43623	p.Gln68Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920318T>C	NCI-TCGA
SNAI2	O43623	p.Gln68Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.48920320_48920321insTTTCAGTGCAATTTAT	NCI-TCGA
SNAI2	O43623	p.Leu69Pro	rs1158057325	missense variant	-	NC_000008.11:g.48920315A>G	gnomAD
SNAI2	O43623	p.Asn71Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920308A>T	NCI-TCGA
SNAI2	O43623	p.Asn71Ser	rs1455349039	missense variant	-	NC_000008.11:g.48920309T>C	gnomAD
SNAI2	O43623	p.Asn71Asp	rs530556235	missense variant	-	NC_000008.11:g.48920310T>C	1000Genomes
SNAI2	O43623	p.Gly72Cys	rs766684538	missense variant	-	NC_000008.11:g.48920307C>A	ExAC,gnomAD
SNAI2	O43623	p.Leu73Phe	rs763181346	missense variant	-	NC_000008.11:g.48920304G>A	ExAC,gnomAD
SNAI2	O43623	p.Leu76Phe	rs199497690	missense variant	-	NC_000008.11:g.48920295G>A	gnomAD
SNAI2	O43623	p.Ser77Phe	rs372039867	missense variant	-	NC_000008.11:g.48920291G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ser77Pro	rs544948095	missense variant	-	NC_000008.11:g.48920292A>G	1000Genomes,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ser77Cys	rs372039867	missense variant	-	NC_000008.11:g.48920291G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Gly78Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.48920289C>A	NCI-TCGA
SNAI2	O43623	p.Gly78Arg	rs915887115	missense variant	-	NC_000008.11:g.48920289C>T	TOPMed
SNAI2	O43623	p.Gly78Val	rs1236743543	missense variant	-	NC_000008.11:g.48920288C>A	gnomAD
SNAI2	O43623	p.Gly78Arg	rs915887115	missense variant	-	NC_000008.11:g.48920289C>T	NCI-TCGA Cosmic
SNAI2	O43623	p.Ser80Thr	rs1300597470	missense variant	-	NC_000008.11:g.48920283A>T	TOPMed,gnomAD
SNAI2	O43623	p.Ser82Cys	rs1364642218	missense variant	-	NC_000008.11:g.48920276G>C	gnomAD
SNAI2	O43623	p.Gly84Glu	rs1287664441	missense variant	-	NC_000008.11:g.48920270C>T	gnomAD
SNAI2	O43623	p.Arg85Gln	rs1175977420	missense variant	-	NC_000008.11:g.48920267C>T	gnomAD
SNAI2	O43623	p.Arg85Gly	rs146310523	missense variant	-	NC_000008.11:g.48920268G>C	ESP,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Val86Ala	RCV000398284	missense variant	Waardenburg syndrome	NC_000008.11:g.48920264A>G	ClinVar
SNAI2	O43623	p.Val86Ala	RCV000350118	missense variant	Partial albinism (PBT)	NC_000008.11:g.48920264A>G	ClinVar
SNAI2	O43623	p.Val86Ala	rs186986959	missense variant	-	NC_000008.11:g.48920264A>G	1000Genomes,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Val86Met	rs756592742	missense variant	-	NC_000008.11:g.48920265C>T	ExAC,gnomAD
SNAI2	O43623	p.Val86Gly	rs186986959	missense variant	-	NC_000008.11:g.48920264A>C	1000Genomes,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ser87Gly	rs767804680	missense variant	-	NC_000008.11:g.48920262T>C	ExAC,gnomAD
SNAI2	O43623	p.Ser87Arg	rs755435590	missense variant	-	NC_000008.11:g.48920260A>C	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Pro88Leu	rs751957538	missense variant	-	NC_000008.11:g.48920258G>A	ExAC,gnomAD
SNAI2	O43623	p.Pro89Thr	rs1487949599	missense variant	-	NC_000008.11:g.48920256G>T	gnomAD
SNAI2	O43623	p.Pro90Ser	rs763201300	missense variant	-	NC_000008.11:g.48920253G>A	ExAC,gnomAD
SNAI2	O43623	p.Pro91Leu	rs928687637	missense variant	-	NC_000008.11:g.48920249G>A	TOPMed
SNAI2	O43623	p.Lys97Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920231T>A	NCI-TCGA
SNAI2	O43623	p.Asp98Asn	rs765308302	missense variant	-	NC_000008.11:g.48920229C>T	ExAC,gnomAD
SNAI2	O43623	p.Asp98Tyr	COSM751321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920229C>A	NCI-TCGA Cosmic
SNAI2	O43623	p.Ser100Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920221A>C	NCI-TCGA
SNAI2	O43623	p.Ile106Val	rs760557285	missense variant	-	NC_000008.11:g.48920205T>C	ExAC,gnomAD
SNAI2	O43623	p.Glu110Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920193C>T	NCI-TCGA
SNAI2	O43623	p.Glu110Val	COSM486504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920192T>A	NCI-TCGA Cosmic
SNAI2	O43623	p.Glu110Ala	rs1408977509	missense variant	-	NC_000008.11:g.48920192T>G	TOPMed
SNAI2	O43623	p.Glu111Gln	rs1293589280	missense variant	-	NC_000008.11:g.48920190C>G	TOPMed,gnomAD
SNAI2	O43623	p.Glu111Gly	rs1399921076	missense variant	-	NC_000008.11:g.48920189T>C	gnomAD
SNAI2	O43623	p.Arg112Lys	rs1356727405	missense variant	-	NC_000008.11:g.48920186C>T	gnomAD
SNAI2	O43623	p.Arg112Ser	rs775535419	missense variant	-	NC_000008.11:g.48920185T>A	ExAC,gnomAD
SNAI2	O43623	p.Gln114Pro	rs200288712	missense variant	-	NC_000008.11:g.48920180T>G	ESP,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ser115Phe	rs745724072	missense variant	-	NC_000008.11:g.48920177G>A	ExAC,gnomAD
SNAI2	O43623	p.Lys116Arg	rs774130913	missense variant	-	NC_000008.11:g.48920174T>C	ExAC,gnomAD
SNAI2	O43623	p.Leu117Pro	rs1167988676	missense variant	-	NC_000008.11:g.48920171A>G	gnomAD
SNAI2	O43623	p.Leu117Ile	COSM605886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920172G>T	NCI-TCGA Cosmic
SNAI2	O43623	p.Leu117Phe	rs1021817915	missense variant	-	NC_000008.11:g.48920172G>A	TOPMed,gnomAD
SNAI2	O43623	p.Asp119Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920166C>T	NCI-TCGA
SNAI2	O43623	p.Asp119Glu	rs748917911	missense variant	-	NC_000008.11:g.48920164G>T	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Pro120Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920162G>A	NCI-TCGA
SNAI2	O43623	p.Pro120Thr	rs777170757	missense variant	-	NC_000008.11:g.48920163G>T	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Pro120Ser	rs777170757	missense variant	-	NC_000008.11:g.48920163G>A	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ala122Thr	rs907510990	missense variant	-	NC_000008.11:g.48920157C>T	TOPMed
SNAI2	O43623	p.Ala122Gly	rs181954619	missense variant	-	NC_000008.11:g.48920156G>C	1000Genomes,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ala122Val	rs181954619	missense variant	-	NC_000008.11:g.48920156G>A	1000Genomes,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ile123Val	rs747582227	missense variant	-	NC_000008.11:g.48920154T>C	ExAC,gnomAD
SNAI2	O43623	p.Ile123Thr	rs781778604	missense variant	-	NC_000008.11:g.48920153A>G	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ala125Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920148C>T	NCI-TCGA
SNAI2	O43623	p.Lys127Gln	rs1287658107	missense variant	-	NC_000008.11:g.48920142T>G	gnomAD
SNAI2	O43623	p.Cys130Arg	rs1218100937	missense variant	-	NC_000008.11:g.48920133A>G	gnomAD
SNAI2	O43623	p.Cys130Trp	rs1336032756	missense variant	-	NC_000008.11:g.48920131G>C	gnomAD
SNAI2	O43623	p.Asn131Ser	rs1472034350	missense variant	-	NC_000008.11:g.48920129T>C	TOPMed
SNAI2	O43623	p.Asn131Tyr	rs1243515213	missense variant	-	NC_000008.11:g.48920130T>A	gnomAD
SNAI2	O43623	p.Cys133Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.48920122G>T	NCI-TCGA
SNAI2	O43623	p.Asn134Asp	COSM72747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920121T>C	NCI-TCGA Cosmic
SNAI2	O43623	p.Asn134Ser	rs200799419	missense variant	-	NC_000008.11:g.48920120T>C	1000Genomes,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Asn134Ser	rs200799419	missense variant	-	NC_000008.11:g.48920120T>C	NCI-TCGA,NCI-TCGA Cosmic
SNAI2	O43623	p.Thr136Ala	rs750615415	missense variant	-	NC_000008.11:g.48920115T>C	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Ser141Phe	COSM258068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920099G>A	NCI-TCGA Cosmic
SNAI2	O43623	p.Gly142Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920097C>A	NCI-TCGA
SNAI2	O43623	p.Gly142Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920096C>A	NCI-TCGA
SNAI2	O43623	p.Leu143Met	rs201280051	missense variant	-	NC_000008.11:g.48920094G>T	1000Genomes,ExAC,gnomAD
SNAI2	O43623	p.Ala144Thr	rs753851004	missense variant	-	NC_000008.11:g.48920091C>T	ExAC,gnomAD
SNAI2	O43623	p.Ala144Gly	rs1450198644	missense variant	-	NC_000008.11:g.48920090G>C	gnomAD
SNAI2	O43623	p.Lys145Glu	rs1324596275	missense variant	-	NC_000008.11:g.48920088T>C	gnomAD
SNAI2	O43623	p.His146Arg	rs759405037	missense variant	-	NC_000008.11:g.48920084T>C	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Leu149Val	rs774149293	missense variant	-	NC_000008.11:g.48920076G>C	ExAC,gnomAD
SNAI2	O43623	p.Cys151Trp	COSM6113268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920068G>C	NCI-TCGA Cosmic
SNAI2	O43623	p.Asp152Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920067C>T	NCI-TCGA
SNAI2	O43623	p.Ala153Val	rs762545404	missense variant	-	NC_000008.11:g.48920063G>A	ExAC,gnomAD
SNAI2	O43623	p.Ala153Thr	rs770664185	missense variant	-	NC_000008.11:g.48920064C>T	ExAC,gnomAD
SNAI2	O43623	p.Gln154Arg	rs1367659132	missense variant	-	NC_000008.11:g.48920060T>C	gnomAD
SNAI2	O43623	p.Ser155Ala	rs1182336073	missense variant	-	NC_000008.11:g.48920058A>C	gnomAD
SNAI2	O43623	p.Arg156Gly	rs772959139	missense variant	-	NC_000008.11:g.48920055T>C	ExAC,gnomAD
SNAI2	O43623	p.Ser158Tyr	rs769311446	missense variant	-	NC_000008.11:g.48920048G>T	NCI-TCGA
SNAI2	O43623	p.Ser158Tyr	rs769311446	missense variant	-	NC_000008.11:g.48920048G>T	ExAC,gnomAD
SNAI2	O43623	p.Ser158Cys	rs769311446	missense variant	-	NC_000008.11:g.48920048G>C	ExAC,gnomAD
SNAI2	O43623	p.Phe159Cys	rs747758720	missense variant	-	NC_000008.11:g.48920045A>C	ExAC,gnomAD
SNAI2	O43623	p.Ser160Arg	rs1445609110	missense variant	-	NC_000008.11:g.48920043T>G	TOPMed
SNAI2	O43623	p.Ser160Thr	rs780781747	missense variant	-	NC_000008.11:g.48920042C>G	ExAC,gnomAD
SNAI2	O43623	p.Cys161Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920039C>T	NCI-TCGA
SNAI2	O43623	p.Asp165Gly	rs374589338	missense variant	-	NC_000008.11:g.48920027T>C	ESP
SNAI2	O43623	p.Lys166Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48920023C>A	NCI-TCGA
SNAI2	O43623	p.Ala173Thr	COSM2718130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48920004C>T	NCI-TCGA Cosmic
SNAI2	O43623	p.Ala173Gly	rs769299661	missense variant	-	NC_000008.11:g.48920003G>C	ExAC,gnomAD
SNAI2	O43623	p.Lys175Glu	COSM1100349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48919998T>C	NCI-TCGA Cosmic
SNAI2	O43623	p.Met176Thr	rs780596140	missense variant	-	NC_000008.11:g.48919994A>G	ExAC,gnomAD
SNAI2	O43623	p.Arg179Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48919986G>A	NCI-TCGA
SNAI2	O43623	p.Arg179Gln	rs758835778	missense variant	-	NC_000008.11:g.48919985C>T	ExAC,gnomAD
SNAI2	O43623	p.Thr180CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.48919967_48919983CAAGGTAATGTGTGGGT>-	NCI-TCGA
SNAI2	O43623	p.Cys187Tyr	rs1306669436	missense variant	-	NC_000008.11:g.48919961C>T	gnomAD
SNAI2	O43623	p.Lys188Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48919957C>G	NCI-TCGA
SNAI2	O43623	p.Lys188Asn	rs750730056	missense variant	-	NC_000008.11:g.48919957C>A	ExAC,gnomAD
SNAI2	O43623	p.Ile189Leu	rs779251454	missense variant	-	NC_000008.11:g.48919956T>G	ExAC,gnomAD
SNAI2	O43623	p.Gly191Ser	rs757418816	missense variant	-	NC_000008.11:g.48919950C>T	ExAC,gnomAD
SNAI2	O43623	p.Ala193Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48919943G>T	NCI-TCGA
SNAI2	O43623	p.Pro197Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48919931G>A	NCI-TCGA
SNAI2	O43623	p.Leu199Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48919926A>C	NCI-TCGA
SNAI2	O43623	p.Gln201Arg	rs1424430619	missense variant	-	NC_000008.11:g.48919919T>C	gnomAD
SNAI2	O43623	p.Arg205Ile	COSM1226930	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48919907C>A	NCI-TCGA Cosmic
SNAI2	O43623	p.Arg205Lys	COSM751323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48919907C>T	NCI-TCGA Cosmic
SNAI2	O43623	p.Thr208Met	rs1229742703	missense variant	-	NC_000008.11:g.48919898G>A	TOPMed
SNAI2	O43623	p.His217Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48918965G>A	NCI-TCGA
SNAI2	O43623	p.His217Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48918965G>T	NCI-TCGA
SNAI2	O43623	p.Asn219Lys	COSM3413047	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48918957G>T	NCI-TCGA Cosmic
SNAI2	O43623	p.Phe222LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.48918948A>-	NCI-TCGA
SNAI2	O43623	p.Arg225Lys	rs141976823	missense variant	-	NC_000008.11:g.48918940C>T	ESP,ExAC
SNAI2	O43623	p.Leu228Met	COSM1100346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48918932G>T	NCI-TCGA Cosmic
SNAI2	O43623	p.Gln233His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48918915C>A	NCI-TCGA
SNAI2	O43623	p.Asp237Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48918905C>T	NCI-TCGA
SNAI2	O43623	p.Val238Ala	rs1250018038	missense variant	-	NC_000008.11:g.48918901A>G	TOPMed
SNAI2	O43623	p.Lys239Glu	COSM3649499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48918899T>C	NCI-TCGA Cosmic
SNAI2	O43623	p.Tyr241Ter	rs1270319958	stop gained	-	NC_000008.11:g.48918891G>T	gnomAD
SNAI2	O43623	p.Gln242Pro	rs750242653	missense variant	-	NC_000008.11:g.48918889T>G	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Gln242Arg	rs750242653	missense variant	-	NC_000008.11:g.48918889T>C	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Asn245ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.48918880T>-	NCI-TCGA
SNAI2	O43623	p.Asn245His	rs138847615	missense variant	-	NC_000008.11:g.48918881T>G	ESP,ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Cys246Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.48918876G>T	NCI-TCGA
SNAI2	O43623	p.Ser247Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48918874G>A	NCI-TCGA
SNAI2	O43623	p.Ser247Cys	rs376627182	missense variant	-	NC_000008.11:g.48918874G>C	ESP,TOPMed
SNAI2	O43623	p.Thr249Pro	COSM3900496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.48918869T>G	NCI-TCGA Cosmic
SNAI2	O43623	p.Phe250Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48918864G>T	NCI-TCGA
SNAI2	O43623	p.Met253Leu	rs1361071168	missense variant	-	NC_000008.11:g.48918857T>G	gnomAD
SNAI2	O43623	p.Ser254Thr	rs763814813	missense variant	-	NC_000008.11:g.48918854A>T	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Leu255Val	rs1414167926	missense variant	-	NC_000008.11:g.48918851G>C	gnomAD
SNAI2	O43623	p.His257Arg	rs1054521876	missense variant	-	NC_000008.11:g.48918844T>C	TOPMed
SNAI2	O43623	p.Lys258Arg	rs1169791779	missense variant	-	NC_000008.11:g.48918841T>C	gnomAD
SNAI2	O43623	p.Lys258Asn	rs1477087613	missense variant	-	NC_000008.11:g.48918840T>A	gnomAD
SNAI2	O43623	p.Glu261Asp	rs1486877958	missense variant	-	NC_000008.11:g.48918831T>A	gnomAD
SNAI2	O43623	p.Glu261Gly	rs932078973	missense variant	-	NC_000008.11:g.48918832T>C	TOPMed,gnomAD
SNAI2	O43623	p.Gly263Ser	rs1011653120	missense variant	-	NC_000008.11:g.48918827C>T	gnomAD
SNAI2	O43623	p.Cys265Tyr	rs772639292	missense variant	-	NC_000008.11:g.48918820C>T	ExAC,TOPMed,gnomAD
SNAI2	O43623	p.Val266Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.48918817A>G	NCI-TCGA
SNAI2	O43623	p.HisTer268GlnUnk	rs1304900927	stop lost	-	NC_000008.11:g.48918809_48918810del	TOPMed
SNAI2	O43623	p.His268Arg	rs1273093098	missense variant	-	NC_000008.11:g.48918811T>C	gnomAD
AKAP8	O43823	p.Asp2Tyr	rs747362693	missense variant	-	NC_000019.10:g.15379728C>A	ExAC,gnomAD
AKAP8	O43823	p.Asp2Glu	rs778290852	missense variant	-	NC_000019.10:g.15379726G>T	ExAC,gnomAD
AKAP8	O43823	p.Gln3Ter	rs1410893474	stop gained	-	NC_000019.10:g.15379725G>A	gnomAD
AKAP8	O43823	p.Gly4Cys	rs776280853	missense variant	-	NC_000019.10:g.15379722C>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly6Glu	rs1372740114	missense variant	-	NC_000019.10:g.15379715C>T	TOPMed
AKAP8	O43823	p.Gly6Arg	rs1416686206	missense variant	-	NC_000019.10:g.15379716C>T	gnomAD
AKAP8	O43823	p.Ala10Thr	rs780466979	missense variant	-	NC_000019.10:g.15377006C>T	ExAC,gnomAD
AKAP8	O43823	p.Ala10Val	rs755984203	missense variant	-	NC_000019.10:g.15377005G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser12Asn	rs568660290	missense variant	-	NC_000019.10:g.15376999C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro15Leu	rs781152033	missense variant	-	NC_000019.10:g.15376990G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro15Thr	rs1349016263	missense variant	-	NC_000019.10:g.15376991G>T	gnomAD
AKAP8	O43823	p.Ala16Thr	rs757010364	missense variant	-	NC_000019.10:g.15376988C>T	ExAC,gnomAD
AKAP8	O43823	p.Ala16Val	rs1428348574	missense variant	-	NC_000019.10:g.15376987G>A	TOPMed,gnomAD
AKAP8	O43823	p.Gly20Val	rs764727382	missense variant	-	NC_000019.10:g.15374635C>A	ExAC,gnomAD
AKAP8	O43823	p.Ala21Thr	rs766031371	missense variant	-	NC_000019.10:g.15374633C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Tyr22Phe	rs1180309872	missense variant	-	NC_000019.10:g.15374629T>A	gnomAD
AKAP8	O43823	p.Tyr22His	rs1261722110	missense variant	-	NC_000019.10:g.15374630A>G	gnomAD
AKAP8	O43823	p.Val26Met	rs1473740860	missense variant	-	NC_000019.10:g.15374618C>T	gnomAD
AKAP8	O43823	p.Ala27Asp	rs762122355	missense variant	-	NC_000019.10:g.15374614G>T	ExAC,gnomAD
AKAP8	O43823	p.Ser28Gly	rs774811575	missense variant	-	NC_000019.10:g.15374612T>C	ExAC,gnomAD
AKAP8	O43823	p.Gly31Asp	rs1450311700	missense variant	-	NC_000019.10:g.15374065C>T	TOPMed
AKAP8	O43823	p.Asn34Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15374055G>T	NCI-TCGA
AKAP8	O43823	p.Asn34Lys	rs747916260	missense variant	-	NC_000019.10:g.15374055G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asn36Ser	rs200427700	missense variant	-	NC_000019.10:g.15374050T>C	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Tyr38Cys	rs768609581	missense variant	-	NC_000019.10:g.15374044T>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly39Ser	rs749177199	missense variant	-	NC_000019.10:g.15374042C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala40Ser	rs199886431	missense variant	-	NC_000019.10:g.15374039C>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala40ProArgAlaArgGluArgAlaLeuLeuArgLysThrGluTyr	NCI-TCGA novel	insertion	-	NC_000019.10:g.15374037_15374038insTATTCAGTTTTCCGGAGCAGCGCTCTTTCTCTGGCCCGCGGA	NCI-TCGA
AKAP8	O43823	p.Ala40Thr	rs199886431	missense variant	-	NC_000019.10:g.15374039C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln41Arg	rs1211065572	missense variant	-	NC_000019.10:g.15374035T>C	TOPMed
AKAP8	O43823	p.Thr43Ser	rs780698925	missense variant	-	NC_000019.10:g.15374029G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Thr43Ile	rs780698925	missense variant	-	NC_000019.10:g.15374029G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Thr46Ile	rs900563839	missense variant	-	NC_000019.10:g.15374020G>A	TOPMed
AKAP8	O43823	p.Ala49Val	rs1246598925	missense variant	-	NC_000019.10:g.15374011G>A	gnomAD
AKAP8	O43823	p.Ala49Ser	rs1293704113	missense variant	-	NC_000019.10:g.15374012C>A	TOPMed,gnomAD
AKAP8	O43823	p.Ala49Thr	rs1293704113	missense variant	-	NC_000019.10:g.15374012C>T	TOPMed,gnomAD
AKAP8	O43823	p.Thr50Ile	rs765659943	missense variant	-	NC_000019.10:g.15374008G>A	ExAC,gnomAD
AKAP8	O43823	p.Thr50Pro	rs1040875337	missense variant	-	NC_000019.10:g.15374009T>G	TOPMed
AKAP8	O43823	p.Tyr53Phe	rs1405025128	missense variant	-	NC_000019.10:g.15373999T>A	TOPMed
AKAP8	O43823	p.Gly54Ser	rs371961765	missense variant	-	NC_000019.10:g.15373997C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala56Val	rs369396055	missense variant	-	NC_000019.10:g.15373990G>A	ESP,TOPMed,gnomAD
AKAP8	O43823	p.Ala56Gly	COSM709699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373990G>C	NCI-TCGA Cosmic
AKAP8	O43823	p.Ser57Leu	rs1385331172	missense variant	-	NC_000019.10:g.15373987G>A	TOPMed,gnomAD
AKAP8	O43823	p.Ala60Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15373978G>A	NCI-TCGA
AKAP8	O43823	p.Ala61Thr	rs773531995	missense variant	-	NC_000019.10:g.15373976C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala61Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15373975G>T	NCI-TCGA
AKAP8	O43823	p.Lys62Arg	rs375568292	missense variant	-	NC_000019.10:g.15373972T>C	ESP,TOPMed,gnomAD
AKAP8	O43823	p.Asn64Ser	rs543107450	missense variant	-	NC_000019.10:g.15373966T>C	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly66Asp	rs1373184159	missense variant	-	NC_000019.10:g.15373960C>T	TOPMed,gnomAD
AKAP8	O43823	p.Gly66Ala	rs1373184159	missense variant	-	NC_000019.10:g.15373960C>G	TOPMed,gnomAD
AKAP8	O43823	p.Gly67Ser	rs372276967	missense variant	-	NC_000019.10:g.15373958C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala69Val	rs201040301	missense variant	-	NC_000019.10:g.15373951G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala69Gly	rs201040301	missense variant	-	NC_000019.10:g.15373951G>C	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly71Arg	rs757004459	missense variant	-	NC_000019.10:g.15373946C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala72Asp	rs779421659	missense variant	-	NC_000019.10:g.15373942G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro73Arg	rs1316614194	missense variant	-	NC_000019.10:g.15373939G>C	gnomAD
AKAP8	O43823	p.Ala74Val	rs143110237	missense variant	-	NC_000019.10:g.15373936G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala74Asp	rs143110237	missense variant	-	NC_000019.10:g.15373936G>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala74Ser	COSM4926064	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373937C>A	NCI-TCGA Cosmic
AKAP8	O43823	p.Met75Thr	rs760847556	missense variant	-	NC_000019.10:g.15373933A>G	ExAC,gnomAD
AKAP8	O43823	p.Met75Leu	rs1409530929	missense variant	-	NC_000019.10:g.15373934T>G	gnomAD
AKAP8	O43823	p.Met75Leu	rs1409530929	missense variant	-	NC_000019.10:g.15373934T>A	gnomAD
AKAP8	O43823	p.His76Tyr	rs540992457	missense variant	-	NC_000019.10:g.15373931G>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.His76Asn	rs540992457	missense variant	-	NC_000019.10:g.15373931G>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Met77Val	rs182841537	missense variant	-	NC_000019.10:g.15373928T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Met77Leu	rs182841537	missense variant	-	NC_000019.10:g.15373928T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala78Ser	rs200946181	missense variant	-	NC_000019.10:g.15373925C>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser79Cys	rs1171532363	missense variant	-	NC_000019.10:g.15373921G>C	TOPMed,gnomAD
AKAP8	O43823	p.Ser79Phe	rs1171532363	missense variant	-	NC_000019.10:g.15373921G>A	TOPMed,gnomAD
AKAP8	O43823	p.Gly81Arg	rs138205008	missense variant	-	NC_000019.10:g.15373916C>G	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly81Ser	rs138205008	missense variant	-	NC_000019.10:g.15373916C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro82Ser	rs371717938	missense variant	-	NC_000019.10:g.15373913G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Cys85Trp	rs1206510197	missense variant	-	NC_000019.10:g.15373902G>C	gnomAD
AKAP8	O43823	p.Cys85Tyr	COSM992173	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373903C>T	NCI-TCGA Cosmic
AKAP8	O43823	p.Thr86Ile	rs1184116236	missense variant	-	NC_000019.10:g.15373900G>A	TOPMed
AKAP8	O43823	p.Asp87Asn	rs776305733	missense variant	-	NC_000019.10:g.15373898C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp90Asn	rs746722423	missense variant	-	NC_000019.10:g.15373889C>T	ExAC,gnomAD
AKAP8	O43823	p.Leu92His	rs1263913817	missense variant	-	NC_000019.10:g.15373882A>T	gnomAD
AKAP8	O43823	p.Ile93Val	rs777549589	missense variant	-	NC_000019.10:g.15373880T>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala94Ser	rs1425445803	missense variant	-	NC_000019.10:g.15373877C>A	TOPMed
AKAP8	O43823	p.Lys95Arg	rs145618483	missense variant	-	NC_000019.10:g.15373873T>C	ESP
AKAP8	O43823	p.Asn97Ser	rs755415548	missense variant	-	NC_000019.10:g.15373867T>C	ExAC,gnomAD
AKAP8	O43823	p.Asn97Lys	rs1340474154	missense variant	-	NC_000019.10:g.15373866G>T	gnomAD
AKAP8	O43823	p.Gln98His	rs1332921187	missense variant	-	NC_000019.10:g.15373863C>A	TOPMed,gnomAD
AKAP8	O43823	p.Arg99Cys	rs749584259	missense variant	-	NC_000019.10:g.15373862G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg99His	rs780425403	missense variant	-	NC_000019.10:g.15373861C>T	ExAC,gnomAD
AKAP8	O43823	p.Asp101His	rs756600778	missense variant	-	NC_000019.10:g.15373856C>G	ExAC,gnomAD
AKAP8	O43823	p.Asp101Tyr	rs756600778	missense variant	-	NC_000019.10:g.15373856C>A	ExAC,gnomAD
AKAP8	O43823	p.Lys105Arg	COSM4075008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373843T>C	NCI-TCGA Cosmic
AKAP8	O43823	p.Gly108Asp	rs537386173	missense variant	-	NC_000019.10:g.15373834C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly108Cys	rs1456420803	missense variant	-	NC_000019.10:g.15373835C>A	gnomAD
AKAP8	O43823	p.Gly108Val	rs537386173	missense variant	-	NC_000019.10:g.15373834C>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg109Ser	rs141962668	missense variant	-	NC_000019.10:g.15373830C>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly110Ser	rs751838083	missense variant	-	NC_000019.10:g.15373829C>T	ExAC,gnomAD
AKAP8	O43823	p.Gly110Val	rs1236770565	missense variant	-	NC_000019.10:g.15373828C>A	gnomAD
AKAP8	O43823	p.Gly111Arg	rs762851384	missense variant	-	NC_000019.10:g.15373826C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly113Ser	rs138778621	missense variant	-	NC_000019.10:g.15373820C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly114Ser	rs370984046	missense variant	-	NC_000019.10:g.15373817C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly115Ser	rs770618850	missense variant	-	NC_000019.10:g.15373814C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly115Cys	rs770618850	missense variant	-	NC_000019.10:g.15373814C>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly115Val	rs1356111761	missense variant	-	NC_000019.10:g.15373813C>A	gnomAD
AKAP8	O43823	p.Gly116Trp	rs773038027	missense variant	-	NC_000019.10:g.15373811C>A	ExAC,gnomAD
AKAP8	O43823	p.Gly116Arg	rs773038027	missense variant	-	NC_000019.10:g.15373811C>T	ExAC,gnomAD
AKAP8	O43823	p.Glu117Lys	rs886563750	missense variant	-	NC_000019.10:g.15373808C>T	TOPMed
AKAP8	O43823	p.Gly118Ser	rs1384334246	missense variant	-	NC_000019.10:g.15373805C>T	TOPMed,gnomAD
AKAP8	O43823	p.Gly118Ala	rs771653952	missense variant	-	NC_000019.10:g.15373804C>G	ExAC,gnomAD
AKAP8	O43823	p.Ile119Val	rs747785344	missense variant	-	NC_000019.10:g.15373802T>C	ExAC,gnomAD
AKAP8	O43823	p.Ile119Thr	rs1343127540	missense variant	-	NC_000019.10:g.15373801A>G	gnomAD
AKAP8	O43823	p.Gln120Arg	rs780294003	missense variant	-	NC_000019.10:g.15373798T>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp121Glu	rs150227649	missense variant	-	NC_000019.10:g.15373794G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp121Glu	rs150227649	missense variant	-	NC_000019.10:g.15373794G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg122Pro	rs537526016	missense variant	-	NC_000019.10:g.15373792C>G	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg122Gly	rs140271912	missense variant	-	NC_000019.10:g.15373793G>C	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg122Gln	rs537526016	missense variant	-	NC_000019.10:g.15373792C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg122Leu	rs537526016	missense variant	-	NC_000019.10:g.15373792C>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg122Trp	rs140271912	missense variant	-	NC_000019.10:g.15373793G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser124Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15373786C>A	NCI-TCGA
AKAP8	O43823	p.Ser124Gly	rs1293175258	missense variant	-	NC_000019.10:g.15373787T>C	gnomAD
AKAP8	O43823	p.Ser125Phe	COSM4854630	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373338G>A	NCI-TCGA Cosmic
AKAP8	O43823	p.Phe126Leu	rs1281127140	missense variant	-	NC_000019.10:g.15373334G>C	gnomAD
AKAP8	O43823	p.Arg127Cys	rs199596712	missense variant	-	NC_000019.10:g.15373333G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg127Ser	rs199596712	missense variant	-	NC_000019.10:g.15373333G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg127Leu	rs753715966	missense variant	-	NC_000019.10:g.15373332C>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg127His	COSM2149995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373332C>T	NCI-TCGA Cosmic
AKAP8	O43823	p.Gln129His	rs557566826	missense variant	-	NC_000019.10:g.15373325C>G	1000Genomes,ExAC,gnomAD
AKAP8	O43823	p.Pro130Ala	rs543998894	missense variant	-	NC_000019.10:g.15373324G>C	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro130Leu	rs750317687	missense variant	-	NC_000019.10:g.15373323G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Phe131Leu	rs761375603	missense variant	-	NC_000019.10:g.15373319G>T	ExAC,gnomAD
AKAP8	O43823	p.Glu132Lys	rs117367631	missense variant	-	NC_000019.10:g.15373318C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu132Gln	rs117367631	missense variant	-	NC_000019.10:g.15373318C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Tyr134Cys	rs762557069	missense variant	-	NC_000019.10:g.15373311T>C	ExAC,gnomAD
AKAP8	O43823	p.Asp135Tyr	rs777006737	missense variant	-	NC_000019.10:g.15373309C>A	ExAC,gnomAD
AKAP8	O43823	p.Ser136Tyr	rs771230436	missense variant	-	NC_000019.10:g.15373305G>T	ExAC
AKAP8	O43823	p.Arg137Ser	rs1224492328	missense variant	-	NC_000019.10:g.15373301C>A	TOPMed
AKAP8	O43823	p.Pro138Leu	rs747522574	missense variant	-	NC_000019.10:g.15373299G>A	ExAC,gnomAD
AKAP8	O43823	p.Pro138Ser	rs1175966049	missense variant	-	NC_000019.10:g.15373300G>A	TOPMed,gnomAD
AKAP8	O43823	p.Pro138Thr	rs1175966049	missense variant	-	NC_000019.10:g.15373300G>T	TOPMed,gnomAD
AKAP8	O43823	p.Cys139Arg	rs1252549849	missense variant	-	NC_000019.10:g.15373297A>G	gnomAD
AKAP8	O43823	p.Pro141Leu	rs778326770	missense variant	-	NC_000019.10:g.15373290G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu142Gln	rs1263163161	missense variant	-	NC_000019.10:g.15373288C>G	TOPMed
AKAP8	O43823	p.Glu142Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15373288C>T	NCI-TCGA
AKAP8	O43823	p.His143Gln	rs748223348	missense variant	-	NC_000019.10:g.15373283G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro145Leu	rs755272068	missense variant	-	NC_000019.10:g.15373278G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro145Ser	rs778814765	missense variant	-	NC_000019.10:g.15373279G>A	ExAC,gnomAD
AKAP8	O43823	p.Tyr146Asn	rs1306087762	missense variant	-	NC_000019.10:g.15373276A>T	gnomAD
AKAP8	O43823	p.Tyr146Cys	rs1389598762	missense variant	-	NC_000019.10:g.15373275T>C	gnomAD
AKAP8	O43823	p.Arg147His	rs199551594	missense variant	-	NC_000019.10:g.15373272C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg147Leu	COSM6150280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373272C>A	NCI-TCGA Cosmic
AKAP8	O43823	p.Arg147Cys	rs779998462	missense variant	-	NC_000019.10:g.15373273G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro148Leu	rs750388000	missense variant	-	NC_000019.10:g.15373269G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Tyr150Cys	rs146125281	missense variant	-	NC_000019.10:g.15373263T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser151Ile	rs1411652142	missense variant	-	NC_000019.10:g.15373260C>A	gnomAD
AKAP8	O43823	p.Tyr152Cys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15373257T>C	NCI-TCGA
AKAP8	O43823	p.Asp153Glu	rs1310980536	missense variant	-	NC_000019.10:g.15373253G>T	TOPMed
AKAP8	O43823	p.Asp153Val	rs1405977146	missense variant	-	NC_000019.10:g.15373254T>A	TOPMed
AKAP8	O43823	p.Asp153Asn	rs763550420	missense variant	-	NC_000019.10:g.15373255C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu155Lys	rs762609413	missense variant	-	NC_000019.10:g.15373249C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu155Val	rs775060199	missense variant	-	NC_000019.10:g.15373248T>A	ExAC,gnomAD
AKAP8	O43823	p.Phe156Leu	rs773627639	missense variant	-	NC_000019.10:g.15373244G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Phe156Leu	rs773627639	missense variant	-	NC_000019.10:g.15373244G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp157Asn	rs772661694	missense variant	-	NC_000019.10:g.15373243C>T	ExAC,gnomAD
AKAP8	O43823	p.Asp161Asn	rs774502753	missense variant	-	NC_000019.10:g.15373231C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp161Tyr	COSM3529627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373231C>A	NCI-TCGA Cosmic
AKAP8	O43823	p.Arg162Cys	rs375658740	missense variant	-	NC_000019.10:g.15373228G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg162His	rs558615660	missense variant	-	NC_000019.10:g.15373227C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asn163Ser	rs780411972	missense variant	-	NC_000019.10:g.15373224T>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly164Asp	rs756024480	missense variant	-	NC_000019.10:g.15373221C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Phe166Ser	COSM992169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373215A>G	NCI-TCGA Cosmic
AKAP8	O43823	p.Gly167Trp	rs142229471	missense variant	-	NC_000019.10:g.15373213C>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly167Ala	rs148526102	missense variant	-	NC_000019.10:g.15373212C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly167Val	rs148526102	missense variant	-	NC_000019.10:g.15373212C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly167Arg	rs142229471	missense variant	-	NC_000019.10:g.15373213C>G	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly167Arg	rs142229471	missense variant	-	NC_000019.10:g.15373213C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly167Glu	rs148526102	missense variant	-	NC_000019.10:g.15373212C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln169Arg	rs1384599376	missense variant	-	NC_000019.10:g.15373206T>C	gnomAD
AKAP8	O43823	p.Gln169SerPheSerTerUnkUnk	COSM5017897	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.15373208C>-	NCI-TCGA Cosmic
AKAP8	O43823	p.Ser171Gly	rs768155611	missense variant	-	NC_000019.10:g.15373201T>C	gnomAD
AKAP8	O43823	p.Ser171Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15373200C>T	NCI-TCGA
AKAP8	O43823	p.Glu172Asp	rs1410578177	missense variant	-	NC_000019.10:g.15373196T>A	gnomAD
AKAP8	O43823	p.Cys173Trp	rs764834209	missense variant	-	NC_000019.10:g.15373193G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg174Gln	rs759068489	missense variant	-	NC_000019.10:g.15373191C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg174Ter	rs1163456064	stop gained	-	NC_000019.10:g.15373192G>A	TOPMed,gnomAD
AKAP8	O43823	p.Arg174Gly	rs1163456064	missense variant	-	NC_000019.10:g.15373192G>C	TOPMed,gnomAD
AKAP8	O43823	p.Pro176Ser	rs773646159	missense variant	-	NC_000019.10:g.15373186G>A	ExAC,TOPMed
AKAP8	O43823	p.Arg178Trp	rs201218309	missense variant	-	NC_000019.10:g.15373180G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg178Gln	rs12983369	missense variant	-	NC_000019.10:g.15373179C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg180Gly	rs749357933	missense variant	-	NC_000019.10:g.15373174G>C	ExAC,gnomAD
AKAP8	O43823	p.Arg180Trp	rs749357933	missense variant	-	NC_000019.10:g.15373174G>A	ExAC,gnomAD
AKAP8	O43823	p.Arg180Leu	rs144996992	missense variant	-	NC_000019.10:g.15373173C>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg180Gln	rs144996992	missense variant	-	NC_000019.10:g.15373173C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly181Asp	rs770173155	missense variant	-	NC_000019.10:g.15373170C>T	ExAC,gnomAD
AKAP8	O43823	p.Ser182Phe	COSM3529626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15373167G>A	NCI-TCGA Cosmic
AKAP8	O43823	p.Asp184Val	rs781056958	missense variant	-	NC_000019.10:g.15373161T>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Met187Lys	rs747038257	missense variant	-	NC_000019.10:g.15373152A>T	ExAC,gnomAD
AKAP8	O43823	p.Arg188Gln	rs757939809	missense variant	-	NC_000019.10:g.15373149C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg188Trp	rs569588266	missense variant	-	NC_000019.10:g.15373150G>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly189Asp	rs919960025	missense variant	-	NC_000019.10:g.15373146C>T	TOPMed,gnomAD
AKAP8	O43823	p.Gly189Ser	rs1290571958	missense variant	-	NC_000019.10:g.15373147C>T	TOPMed
AKAP8	O43823	p.Gly189Cys	rs1290571958	missense variant	-	NC_000019.10:g.15373147C>A	TOPMed
AKAP8	O43823	p.Gly189Val	rs919960025	missense variant	-	NC_000019.10:g.15373146C>A	TOPMed,gnomAD
AKAP8	O43823	p.Arg190Gln	rs773929361	missense variant	-	NC_000019.10:g.15373143C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg190Trp	rs199550070	missense variant	-	NC_000019.10:g.15373144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg190Gly	rs199550070	missense variant	-	NC_000019.10:g.15373144G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly191Arg	rs148406708	missense variant	-	NC_000019.10:g.15373141C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly191Asp	rs767992491	missense variant	-	NC_000019.10:g.15373140C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly191Ser	rs148406708	missense variant	-	NC_000019.10:g.15373141C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln192Glu	rs762070995	missense variant	-	NC_000019.10:g.15373138G>C	ExAC,gnomAD
AKAP8	O43823	p.Gln192Arg	rs1396458339	missense variant	-	NC_000019.10:g.15373137T>C	TOPMed
AKAP8	O43823	p.Arg194Cys	rs374092087	missense variant	-	NC_000019.10:g.15373132G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg194His	rs61757556	missense variant	-	NC_000019.10:g.15373131C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp197Gly	rs1489803018	missense variant	-	NC_000019.10:g.15373122T>C	gnomAD
AKAP8	O43823	p.Asp197Asn	rs954721453	missense variant	-	NC_000019.10:g.15373123C>T	gnomAD
AKAP8	O43823	p.Arg198Leu	rs547463044	missense variant	-	NC_000019.10:g.15373119C>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg198Trp	rs775735026	missense variant	-	NC_000019.10:g.15373120G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg198Gly	rs775735026	missense variant	-	NC_000019.10:g.15373120G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg198Gln	rs547463044	missense variant	-	NC_000019.10:g.15373119C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro201Thr	rs995910484	missense variant	-	NC_000019.10:g.15373111G>T	TOPMed,gnomAD
AKAP8	O43823	p.Thr203Ile	rs1229848551	missense variant	-	NC_000019.10:g.15373104G>A	gnomAD
AKAP8	O43823	p.Phe204Leu	rs1282895129	missense variant	-	NC_000019.10:g.15373100G>T	gnomAD
AKAP8	O43823	p.Phe204Leu	rs1282895129	missense variant	-	NC_000019.10:g.15373100G>C	gnomAD
AKAP8	O43823	p.Met205Thr	rs1403417073	missense variant	-	NC_000019.10:g.15373098A>G	gnomAD
AKAP8	O43823	p.Met205Val	rs1251624887	missense variant	-	NC_000019.10:g.15373099T>C	TOPMed
AKAP8	O43823	p.Arg206His	rs111389458	missense variant	-	NC_000019.10:g.15373095C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg206Cys	rs370861200	missense variant	-	NC_000019.10:g.15373096G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser207Gly	rs746746325	missense variant	-	NC_000019.10:g.15373093T>C	ExAC,gnomAD
AKAP8	O43823	p.Asp208Asn	rs942141241	missense variant	-	NC_000019.10:g.15373090C>T	TOPMed,gnomAD
AKAP8	O43823	p.Phe210SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.15373085G>-	NCI-TCGA
AKAP8	O43823	p.Val211Met	rs532876878	missense variant	-	NC_000019.10:g.15373081C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro212Leu	rs1270812806	missense variant	-	NC_000019.10:g.15373077G>A	gnomAD
AKAP8	O43823	p.Pro213Leu	rs1199467640	missense variant	-	NC_000019.10:g.15373074G>A	TOPMed,gnomAD
AKAP8	O43823	p.Pro213Arg	rs1199467640	missense variant	-	NC_000019.10:g.15373074G>C	TOPMed,gnomAD
AKAP8	O43823	p.Ala214Thr	rs1326927523	missense variant	-	NC_000019.10:g.15373072C>T	gnomAD
AKAP8	O43823	p.Ala215Val	rs563931587	missense variant	-	NC_000019.10:g.15373068G>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser216Phe	rs757681607	missense variant	-	NC_000019.10:g.15373065G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser217Cys	rs764505670	missense variant	-	NC_000019.10:g.15373062G>C	ExAC,gnomAD
AKAP8	O43823	p.Glu218Asp	rs1347751505	missense variant	-	NC_000019.10:g.15373058C>G	gnomAD
AKAP8	O43823	p.Leu220Pro	rs1284371995	missense variant	-	NC_000019.10:g.15373053A>G	gnomAD
AKAP8	O43823	p.Leu220Arg	rs1284371995	missense variant	-	NC_000019.10:g.15373053A>C	gnomAD
AKAP8	O43823	p.Thr222Met	rs759524859	missense variant	-	NC_000019.10:g.15373047G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Thr222Pro	rs765428584	missense variant	-	NC_000019.10:g.15373048T>G	ExAC,gnomAD
AKAP8	O43823	p.Trp224Ter	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15373040C>T	NCI-TCGA
AKAP8	O43823	p.Asn225Tyr	rs1296033178	missense variant	-	NC_000019.10:g.15373039T>A	TOPMed
AKAP8	O43823	p.Glu226Lys	rs200383217	missense variant	-	NC_000019.10:g.15373036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Leu227Val	rs1431120498	missense variant	-	NC_000019.10:g.15373033G>C	gnomAD
AKAP8	O43823	p.Asn228Ser	rs1010782035	missense variant	-	NC_000019.10:g.15373029T>C	TOPMed,gnomAD
AKAP8	O43823	p.Asn228Lys	rs1173015735	missense variant	-	NC_000019.10:g.15373028G>C	gnomAD
AKAP8	O43823	p.Val230Met	rs1231034890	missense variant	-	NC_000019.10:g.15373024C>T	gnomAD
AKAP8	O43823	p.Gly231Ser	rs1183940094	missense variant	-	NC_000019.10:g.15373021C>T	gnomAD
AKAP8	O43823	p.Gly231Asp	rs561267299	missense variant	-	NC_000019.10:g.15373020C>T	1000Genomes,ExAC,gnomAD
AKAP8	O43823	p.Gly232Val	rs768260540	missense variant	-	NC_000019.10:g.15373017C>A	ExAC,gnomAD
AKAP8	O43823	p.Gly232Arg	rs1242658070	missense variant	-	NC_000019.10:g.15373018C>T	gnomAD
AKAP8	O43823	p.Arg233Gln	rs779577362	missense variant	-	NC_000019.10:g.15373014C>T	ExAC,TOPMed
AKAP8	O43823	p.Arg233Trp	rs748716805	missense variant	-	NC_000019.10:g.15373015G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly234Asp	rs1261277688	missense variant	-	NC_000019.10:g.15373011C>T	TOPMed
AKAP8	O43823	p.Leu235Pro	rs1178992484	missense variant	-	NC_000019.10:g.15373008A>G	TOPMed
AKAP8	O43823	p.Gly237Arg	rs778290315	missense variant	-	NC_000019.10:g.15373003C>G	ExAC,gnomAD
AKAP8	O43823	p.Gly237Arg	rs778290315	missense variant	-	NC_000019.10:g.15373003C>T	ExAC,gnomAD
AKAP8	O43823	p.Pro238Leu	rs1356868314	missense variant	-	NC_000019.10:g.15372999G>A	TOPMed
AKAP8	O43823	p.Pro238Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15373000G>A	NCI-TCGA
AKAP8	O43823	p.Pro238Thr	rs1174761564	missense variant	-	NC_000019.10:g.15373000G>T	TOPMed
AKAP8	O43823	p.Ser239Pro	rs1037916527	missense variant	-	NC_000019.10:g.15372997A>G	TOPMed
AKAP8	O43823	p.Pro240Ser	rs1202600832	missense variant	-	NC_000019.10:g.15372994G>A	gnomAD
AKAP8	O43823	p.Pro240His	rs374389542	missense variant	-	NC_000019.10:g.15372993G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro240Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15372993G>A	NCI-TCGA
AKAP8	O43823	p.Ser241Ile	rs1055952904	missense variant	-	NC_000019.10:g.15372990C>A	TOPMed,gnomAD
AKAP8	O43823	p.Arg242Leu	rs766422224	missense variant	-	NC_000019.10:g.15372987C>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg242Trp	rs538615949	missense variant	-	NC_000019.10:g.15372988G>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg242Gln	rs766422224	missense variant	-	NC_000019.10:g.15372987C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro243Leu	rs1181886340	missense variant	-	NC_000019.10:g.15372984G>A	TOPMed,gnomAD
AKAP8	O43823	p.Pro244Ala	rs761573604	missense variant	-	NC_000019.10:g.15372982G>C	ExAC,gnomAD
AKAP8	O43823	p.Pro244Ser	rs761573604	missense variant	-	NC_000019.10:g.15372982G>A	ExAC,gnomAD
AKAP8	O43823	p.Pro244Leu	rs1238201909	missense variant	-	NC_000019.10:g.15372981G>A	gnomAD
AKAP8	O43823	p.Pro245Thr	rs1215374622	missense variant	-	NC_000019.10:g.15372979G>T	gnomAD
AKAP8	O43823	p.Pro245Leu	rs774386640	missense variant	-	NC_000019.10:g.15372978G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Leu247Val	rs375504255	missense variant	-	NC_000019.10:g.15372973G>C	ESP,TOPMed,gnomAD
AKAP8	O43823	p.Leu247Phe	rs375504255	missense variant	-	NC_000019.10:g.15372973G>A	ESP,TOPMed,gnomAD
AKAP8	O43823	p.Leu247Arg	rs1477990727	missense variant	-	NC_000019.10:g.15372972A>C	TOPMed
AKAP8	O43823	p.Ser249Phe	rs1241470823	missense variant	-	NC_000019.10:g.15372966G>A	gnomAD
AKAP8	O43823	p.Gln250Ter	rs774877555	stop gained	-	NC_000019.10:g.15372964G>A	ExAC
AKAP8	O43823	p.Ser251Cys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15372960G>C	NCI-TCGA
AKAP8	O43823	p.Met252Val	rs1313724494	missense variant	-	NC_000019.10:g.15372958T>C	gnomAD
AKAP8	O43823	p.Ala253Ser	rs1243066328	missense variant	-	NC_000019.10:g.15372955C>A	TOPMed,gnomAD
AKAP8	O43823	p.Ala253Pro	rs1243066328	missense variant	-	NC_000019.10:g.15372955C>G	TOPMed,gnomAD
AKAP8	O43823	p.Asp255His	rs745584936	missense variant	-	NC_000019.10:g.15372949C>G	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp255Asn	rs745584936	missense variant	-	NC_000019.10:g.15372949C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Tyr256His	rs1417431780	missense variant	-	NC_000019.10:g.15372946A>G	TOPMed
AKAP8	O43823	p.Tyr256Cys	rs1304748437	missense variant	-	NC_000019.10:g.15372945T>C	TOPMed
AKAP8	O43823	p.Gly257Ser	rs1320118342	missense variant	-	NC_000019.10:g.15372943C>T	gnomAD
AKAP8	O43823	p.Val258Leu	rs144582281	missense variant	-	NC_000019.10:g.15372940C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val258Met	rs144582281	missense variant	-	NC_000019.10:g.15372940C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Met259Thr	rs779284132	missense variant	-	NC_000019.10:g.15372936A>G	ExAC,gnomAD
AKAP8	O43823	p.Met259Ile	rs1161598305	missense variant	-	NC_000019.10:g.15372935C>T	gnomAD
AKAP8	O43823	p.Met261Leu	rs1446478436	missense variant	-	NC_000019.10:g.15372931T>A	TOPMed,gnomAD
AKAP8	O43823	p.Met261Ile	rs1375398880	missense variant	-	NC_000019.10:g.15372929C>G	TOPMed
AKAP8	O43823	p.Gln262Arg	rs755451146	missense variant	-	NC_000019.10:g.15372927T>C	ExAC,gnomAD
AKAP8	O43823	p.Gly263Arg	RCV000190141	missense variant	Long QT syndrome (LQTS)	NC_000019.10:g.15372925C>G	ClinVar
AKAP8	O43823	p.Gly263Arg	rs754301101	missense variant	-	NC_000019.10:g.15372925C>T	ExAC,gnomAD
AKAP8	O43823	p.Gly263Trp	rs754301101	missense variant	-	NC_000019.10:g.15372925C>A	ExAC,gnomAD
AKAP8	O43823	p.Gly263Arg	rs754301101	missense variant	-	NC_000019.10:g.15372925C>G	ExAC,gnomAD
AKAP8	O43823	p.Ala264Pro	rs1474574714	missense variant	-	NC_000019.10:g.15372922C>G	gnomAD
AKAP8	O43823	p.Ala264Val	rs766433853	missense variant	-	NC_000019.10:g.15372921G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala264GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.15372921_15372922insC	NCI-TCGA
AKAP8	O43823	p.Gly265Asp	rs1490293541	missense variant	-	NC_000019.10:g.15372918C>T	gnomAD
AKAP8	O43823	p.Gly266Asp	rs567114306	missense variant	-	NC_000019.10:g.15372915C>T	1000Genomes,ExAC,gnomAD
AKAP8	O43823	p.Gly266Cys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15372916C>A	NCI-TCGA
AKAP8	O43823	p.Gly266Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15372915C>A	NCI-TCGA
AKAP8	O43823	p.Gly266Ser	rs201942739	missense variant	-	NC_000019.10:g.15372916C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Tyr267Ser	rs761984246	missense variant	-	NC_000019.10:g.15372912T>G	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Tyr267His	rs1290014113	missense variant	-	NC_000019.10:g.15372913A>G	gnomAD
AKAP8	O43823	p.Tyr267Cys	rs761984246	missense variant	-	NC_000019.10:g.15372912T>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp268Asn	rs1359501907	missense variant	-	NC_000019.10:g.15372910C>T	gnomAD
AKAP8	O43823	p.Thr270Ile	rs763893708	missense variant	-	NC_000019.10:g.15372903G>A	ExAC,gnomAD
AKAP8	O43823	p.Met271Ile	rs1178742400	missense variant	-	NC_000019.10:g.15372899C>A	TOPMed
AKAP8	O43823	p.Met271Thr	rs1470776913	missense variant	-	NC_000019.10:g.15372900A>G	TOPMed
AKAP8	O43823	p.Gly274Arg	rs775496511	missense variant	-	NC_000019.10:g.15372892C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly274Glu	rs1350511945	missense variant	-	NC_000019.10:g.15372891C>T	gnomAD
AKAP8	O43823	p.Cys275Ser	rs1165142541	missense variant	-	NC_000019.10:g.15372888C>G	TOPMed
AKAP8	O43823	p.Arg277Cys	rs772828195	missense variant	-	NC_000019.10:g.15372883G>A	ExAC,gnomAD
AKAP8	O43823	p.Arg277His	rs776467913	missense variant	-	NC_000019.10:g.15372882C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser278Leu	rs533862171	missense variant	-	NC_000019.10:g.15372879G>A	1000Genomes,ExAC,gnomAD
AKAP8	O43823	p.Pro280Ala	rs1482067092	missense variant	-	NC_000019.10:g.15372874G>C	gnomAD
AKAP8	O43823	p.Arg281Gln	rs769057727	missense variant	-	NC_000019.10:g.15372870C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg281Trp	rs779146472	missense variant	-	NC_000019.10:g.15372871G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Met282Ile	rs1203134365	missense variant	-	NC_000019.10:g.15372866C>T	gnomAD
AKAP8	O43823	p.Met282Thr	rs1265500562	missense variant	-	NC_000019.10:g.15372867A>G	gnomAD
AKAP8	O43823	p.Arg283Trp	rs1305262102	missense variant	-	NC_000019.10:g.15372865G>A	TOPMed,gnomAD
AKAP8	O43823	p.Arg283Gly	rs1305262102	missense variant	-	NC_000019.10:g.15372865G>C	TOPMed,gnomAD
AKAP8	O43823	p.Arg283Pro	rs201087231	missense variant	-	NC_000019.10:g.15372864C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg283Gln	rs201087231	missense variant	-	NC_000019.10:g.15372864C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg283Leu	rs201087231	missense variant	-	NC_000019.10:g.15372864C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp284Val	rs750533192	missense variant	-	NC_000019.10:g.15372861T>A	ExAC,gnomAD
AKAP8	O43823	p.Asp284Tyr	rs369628844	missense variant	-	NC_000019.10:g.15372862C>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg285Trp	rs377047890	missense variant	-	NC_000019.10:g.15372859G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg285Gln	rs757485353	missense variant	-	NC_000019.10:g.15372858C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg287Gln	rs146135700	missense variant	-	NC_000019.10:g.15372852C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg287Trp	rs763864182	missense variant	-	NC_000019.10:g.15372853G>A	ExAC,gnomAD
AKAP8	O43823	p.Lys289Arg	rs747084890	missense variant	-	NC_000019.10:g.15372343T>C	ExAC,gnomAD
AKAP8	O43823	p.Gly292Trp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15372335C>A	NCI-TCGA
AKAP8	O43823	p.Arg295His	rs374011971	missense variant	-	NC_000019.10:g.15372325C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg295Leu	rs374011971	missense variant	-	NC_000019.10:g.15372325C>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg295Gly	rs45479794	missense variant	-	NC_000019.10:g.15372326G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg295Cys	rs45479794	missense variant	-	NC_000019.10:g.15372326G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Phe296Cys	rs778915734	missense variant	-	NC_000019.10:g.15372322A>C	ExAC,TOPMed
AKAP8	O43823	p.Phe296TrpSerTerHisThrValAlaHisUnk	rs757688688	stop gained	-	NC_000019.10:g.15372322_15372323insTGAGCCACAGTGTGTTAGGACC	ExAC
AKAP8	O43823	p.Phe296Ile	rs1315048906	missense variant	-	NC_000019.10:g.15372323A>T	gnomAD
AKAP8	O43823	p.Gly297Arg	rs981491959	missense variant	-	NC_000019.10:g.15372320C>T	TOPMed,gnomAD
AKAP8	O43823	p.Pro298Gln	rs199931184	missense variant	-	NC_000019.10:g.15372316G>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro298Leu	rs199931184	missense variant	-	NC_000019.10:g.15372316G>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Thr301Met	rs778223401	missense variant	-	NC_000019.10:g.15372307G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys304Glu	rs1433315191	missense variant	-	NC_000019.10:g.15372299T>C	TOPMed
AKAP8	O43823	p.Lys304Arg	rs1189149472	missense variant	-	NC_000019.10:g.15372298T>C	gnomAD
AKAP8	O43823	p.Arg305Trp	rs562521789	missense variant	-	NC_000019.10:g.15372296G>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg305Gln	rs752673284	missense variant	-	NC_000019.10:g.15372295C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Phe308Leu	rs1298596067	missense variant	-	NC_000019.10:g.15372285G>T	TOPMed
AKAP8	O43823	p.Leu310Val	rs141922967	missense variant	-	NC_000019.10:g.15372281G>C	ESP,ExAC,gnomAD
AKAP8	O43823	p.Glu312Lys	rs199867696	missense variant	-	NC_000019.10:g.15372275C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu312Gln	rs199867696	missense variant	-	NC_000019.10:g.15372275C>G	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu313Lys	rs371432747	missense variant	-	NC_000019.10:g.15372272C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu313Ter	rs371432747	stop gained	-	NC_000019.10:g.15372272C>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro314Ala	COSM1736549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15372269G>C	NCI-TCGA Cosmic
AKAP8	O43823	p.Asp315Gly	rs148305720	missense variant	-	NC_000019.10:g.15372265T>C	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Thr316Pro	rs779252959	missense variant	-	NC_000019.10:g.15372263T>G	ExAC,gnomAD
AKAP8	O43823	p.Thr316Ala	rs779252959	missense variant	-	NC_000019.10:g.15372263T>C	ExAC,gnomAD
AKAP8	O43823	p.Lys317Arg	rs1341559858	missense variant	-	NC_000019.10:g.15372259T>C	gnomAD
AKAP8	O43823	p.Ala319Val	rs749125058	missense variant	-	NC_000019.10:g.15372253G>A	ExAC,gnomAD
AKAP8	O43823	p.Arg320Leu	rs115439396	missense variant	-	NC_000019.10:g.15372250C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg320Trp	rs779664437	missense variant	-	NC_000019.10:g.15372251G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg320Gln	rs115439396	missense variant	-	NC_000019.10:g.15372250C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val321Ala	rs567716912	missense variant	-	NC_000019.10:g.15372247A>G	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val321Ile	rs767123360	missense variant	-	NC_000019.10:g.15372248C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val321Asp	rs567716912	missense variant	-	NC_000019.10:g.15372247A>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp322His	rs1478651763	missense variant	-	NC_000019.10:g.15372245C>G	gnomAD
AKAP8	O43823	p.Asp322Tyr	rs1478651763	missense variant	-	NC_000019.10:g.15372245C>A	gnomAD
AKAP8	O43823	p.Ser323Gly	rs553738230	missense variant	-	NC_000019.10:g.15372242T>C	1000Genomes,ExAC,gnomAD
AKAP8	O43823	p.Ser323Asn	rs766581299	missense variant	-	NC_000019.10:g.15372241C>T	ExAC,gnomAD
AKAP8	O43823	p.Gly325Arg	rs367556124	missense variant	-	NC_000019.10:g.15372236C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly325Val	COSM3529624	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15372235C>A	NCI-TCGA Cosmic
AKAP8	O43823	p.Asp326His	rs1338832066	missense variant	-	NC_000019.10:g.15372233C>G	gnomAD
AKAP8	O43823	p.Glu329Gln	rs201405913	missense variant	-	NC_000019.10:g.15372224C>G	1000Genomes,TOPMed,gnomAD
AKAP8	O43823	p.Glu329Lys	rs201405913	missense variant	-	NC_000019.10:g.15372224C>T	1000Genomes,TOPMed,gnomAD
AKAP8	O43823	p.Glu329Gly	rs761951154	missense variant	-	NC_000019.10:g.15372223T>C	ExAC,gnomAD
AKAP8	O43823	p.Asn330MetPheSerTerUnkUnk	COSM1391104	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.15372220T>-	NCI-TCGA Cosmic
AKAP8	O43823	p.Asp332Gly	rs200305270	missense variant	-	NC_000019.10:g.15371995T>C	1000Genomes
AKAP8	O43823	p.Asp332Tyr	rs1280443678	missense variant	-	NC_000019.10:g.15371996C>A	TOPMed
AKAP8	O43823	p.Ala334Gly	rs1256714813	missense variant	-	NC_000019.10:g.15371989G>C	TOPMed
AKAP8	O43823	p.Ala334Thr	rs1218628167	missense variant	-	NC_000019.10:g.15371990C>T	TOPMed
AKAP8	O43823	p.Gly335Cys	rs1378532416	missense variant	-	NC_000019.10:g.15371987C>A	gnomAD
AKAP8	O43823	p.Gly335Ser	COSM3529623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15371987C>T	NCI-TCGA Cosmic
AKAP8	O43823	p.Phe337Tyr	rs770882953	missense variant	-	NC_000019.10:g.15371980A>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Phe337Ser	rs770882953	missense variant	-	NC_000019.10:g.15371980A>G	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg338Cys	rs1242715297	missense variant	-	NC_000019.10:g.15371978G>A	TOPMed,gnomAD
AKAP8	O43823	p.Arg338His	rs560438541	missense variant	-	NC_000019.10:g.15371977C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg338Leu	rs560438541	missense variant	-	NC_000019.10:g.15371977C>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser339Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15371975A>C	NCI-TCGA
AKAP8	O43823	p.Ser339Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.15371974G>T	NCI-TCGA
AKAP8	O43823	p.Gly340Arg	rs375676951	missense variant	-	NC_000019.10:g.15371972C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly340Glu	rs149598752	missense variant	-	NC_000019.10:g.15371971C>T	ESP,TOPMed,gnomAD
AKAP8	O43823	p.Phe344Leu	rs1192939395	missense variant	-	NC_000019.10:g.15371960A>G	TOPMed
AKAP8	O43823	p.Lys345Glu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15371957T>C	NCI-TCGA
AKAP8	O43823	p.Gly346Asp	rs1371236566	missense variant	-	NC_000019.10:g.15371953C>T	TOPMed
AKAP8	O43823	p.Glu347Lys	rs138223241	missense variant	-	NC_000019.10:g.15370179C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp348Gly	rs747019407	missense variant	-	NC_000019.10:g.15370175T>C	ExAC,TOPMed
AKAP8	O43823	p.Asp348Asn	rs770651728	missense variant	-	NC_000019.10:g.15370176C>T	ExAC,gnomAD
AKAP8	O43823	p.Leu350Phe	rs34063092	missense variant	-	NC_000019.10:g.15370170G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Cys351Arg	rs778447463	missense variant	-	NC_000019.10:g.15370167A>G	ExAC,gnomAD
AKAP8	O43823	p.Cys351Trp	rs754591935	missense variant	-	NC_000019.10:g.15370165G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp352Asn	rs748913936	missense variant	-	NC_000019.10:g.15370164C>T	ExAC,gnomAD
AKAP8	O43823	p.Ser353Thr	rs749344859	missense variant	-	NC_000019.10:g.15370161A>T	TOPMed,gnomAD
AKAP8	O43823	p.Arg355Lys	rs932022124	missense variant	-	NC_000019.10:g.15370154C>T	TOPMed,gnomAD
AKAP8	O43823	p.Arg357Ser	rs752151622	missense variant	-	NC_000019.10:g.15370147T>A	ExAC,gnomAD
AKAP8	O43823	p.Lys360Glu	rs138174418	missense variant	-	NC_000019.10:g.15368317T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys360Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15368316T>G	NCI-TCGA
AKAP8	O43823	p.Glu361Asp	rs1239564420	missense variant	-	NC_000019.10:g.15368312C>G	gnomAD
AKAP8	O43823	p.Glu363Lys	rs772466008	missense variant	-	NC_000019.10:g.15368308C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp364Gly	rs1254075328	missense variant	-	NC_000019.10:g.15368304T>C	gnomAD
AKAP8	O43823	p.Glu365Lys	rs867833489	missense variant	-	NC_000019.10:g.15368302C>T	TOPMed,gnomAD
AKAP8	O43823	p.Glu365Ter	rs867833489	stop gained	-	NC_000019.10:g.15368302C>A	TOPMed,gnomAD
AKAP8	O43823	p.Asp366Asn	rs779457121	missense variant	-	NC_000019.10:g.15368299C>T	ExAC,gnomAD
AKAP8	O43823	p.Asp366Tyr	rs779457121	missense variant	-	NC_000019.10:g.15368299C>A	ExAC,gnomAD
AKAP8	O43823	p.Val367Met	rs1237995595	missense variant	-	NC_000019.10:g.15368296C>T	TOPMed,gnomAD
AKAP8	O43823	p.Val367Ala	rs755393923	missense variant	-	NC_000019.10:g.15368295A>G	ExAC,gnomAD
AKAP8	O43823	p.Arg370Ser	rs756343813	missense variant	-	NC_000019.10:g.15368285T>G	ExAC,gnomAD
AKAP8	O43823	p.Arg371Thr	rs368973978	missense variant	-	NC_000019.10:g.15368283C>G	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys373Thr	rs1262136071	missense variant	-	NC_000019.10:g.15368277T>G	TOPMed
AKAP8	O43823	p.Gln374Glu	rs767283404	missense variant	-	NC_000019.10:g.15368275G>C	ExAC,gnomAD
AKAP8	O43823	p.Gln374Lys	rs767283404	missense variant	-	NC_000019.10:g.15368275G>T	ExAC,gnomAD
AKAP8	O43823	p.Arg377Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15368265C>G	NCI-TCGA
AKAP8	O43823	p.Asp378Glu	rs751500989	missense variant	-	NC_000019.10:g.15368261G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Thr380Met	rs140071691	missense variant	-	NC_000019.10:g.15368256G>A	ESP,TOPMed,gnomAD
AKAP8	O43823	p.Arg381Trp	rs974441300	missense variant	-	NC_000019.10:g.15368254G>A	gnomAD
AKAP8	O43823	p.Arg381Gln	rs1422935061	missense variant	-	NC_000019.10:g.15368253C>T	gnomAD
AKAP8	O43823	p.Asp382Gly	COSM4075002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15368250T>C	NCI-TCGA Cosmic
AKAP8	O43823	p.Arg383Cys	rs762942536	missense variant	-	NC_000019.10:g.15368248G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg383His	rs933036638	missense variant	-	NC_000019.10:g.15368247C>T	TOPMed,gnomAD
AKAP8	O43823	p.Ala384Pro	rs1483460306	missense variant	-	NC_000019.10:g.15368245C>G	TOPMed,gnomAD
AKAP8	O43823	p.Ala384Val	rs775141589	missense variant	-	NC_000019.10:g.15368244G>A	ExAC,gnomAD
AKAP8	O43823	p.Asp386Ala	rs1286906975	missense variant	-	NC_000019.10:g.15368238T>G	gnomAD
AKAP8	O43823	p.Asp386Asn	rs1355924852	missense variant	-	NC_000019.10:g.15368239C>T	TOPMed,gnomAD
AKAP8	O43823	p.Ile388Val	rs1319058001	missense variant	-	NC_000019.10:g.15362250T>C	gnomAD
AKAP8	O43823	p.Cys392Ser	rs374745328	missense variant	-	NC_000019.10:g.15362237C>G	ESP,ExAC,gnomAD
AKAP8	O43823	p.Ser393Cys	rs1302862019	missense variant	-	NC_000019.10:g.15362234G>C	gnomAD
AKAP8	O43823	p.Phe397Leu	rs1328901813	missense variant	-	NC_000019.10:g.15362221G>T	TOPMed,gnomAD
AKAP8	O43823	p.Arg398Gly	rs764482753	missense variant	-	NC_000019.10:g.15362220G>C	ExAC,gnomAD
AKAP8	O43823	p.Arg398Cys	rs764482753	missense variant	-	NC_000019.10:g.15362220G>A	ExAC,gnomAD
AKAP8	O43823	p.Arg398His	rs763283589	missense variant	-	NC_000019.10:g.15362219C>T	ExAC,gnomAD
AKAP8	O43823	p.Arg398LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.15362176_15362219TTTGCTTTGCAGATGCTTCTGGATCTCTTCGTCATCAAAGCTAC>-	NCI-TCGA
AKAP8	O43823	p.Asp401His	rs775782451	missense variant	-	NC_000019.10:g.15362211C>G	ExAC,gnomAD
AKAP8	O43823	p.Asp401Asn	rs775782451	missense variant	-	NC_000019.10:g.15362211C>T	ExAC,gnomAD
AKAP8	O43823	p.Asp402Glu	rs746292506	missense variant	-	NC_000019.10:g.15362206G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu403Lys	rs776784836	missense variant	-	NC_000019.10:g.15362205C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu404Val	rs1276850016	missense variant	-	NC_000019.10:g.15362201T>A	TOPMed
AKAP8	O43823	p.Glu404Lys	rs1399970440	missense variant	-	NC_000019.10:g.15362202C>T	TOPMed
AKAP8	O43823	p.Gln406Lys	rs1234707645	missense variant	-	NC_000019.10:g.15362196G>T	TOPMed
AKAP8	O43823	p.Gln406Arg	rs142110198	missense variant	-	NC_000019.10:g.15362195T>C	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys407Thr	rs61755985	missense variant	-	NC_000019.10:g.15362192T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys407Arg	rs61755985	missense variant	-	NC_000019.10:g.15362192T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln410Leu	rs772037464	missense variant	-	NC_000019.10:g.15362183T>A	ExAC,gnomAD
AKAP8	O43823	p.Lys412Arg	rs747991542	missense variant	-	NC_000019.10:g.15362177T>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys415ArgPheSerTerUnkUnk	COSM992167	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.15362167_15362168TT>-	NCI-TCGA Cosmic
AKAP8	O43823	p.Lys415Glu	rs1287957262	missense variant	-	NC_000019.10:g.15362169T>C	TOPMed
AKAP8	O43823	p.Glu416Gly	rs754959616	missense variant	-	NC_000019.10:g.15362165T>C	ExAC,gnomAD
AKAP8	O43823	p.Glu416Gln	rs1215099372	missense variant	-	NC_000019.10:g.15362166C>G	gnomAD
AKAP8	O43823	p.Thr417Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15362162G>T	NCI-TCGA
AKAP8	O43823	p.Leu418Val	rs753707156	missense variant	-	NC_000019.10:g.15362160G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg419Gln	rs755547911	missense variant	-	NC_000019.10:g.15362156C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg419Trp	rs200109371	missense variant	-	NC_000019.10:g.15362157G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser422Arg	rs750125258	missense variant	-	NC_000019.10:g.15362146G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser422Arg	rs750125258	missense variant	-	NC_000019.10:g.15362146G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Thr423Ser	rs767177827	missense variant	-	NC_000019.10:g.15362144G>C	ExAC,gnomAD
AKAP8	O43823	p.Pro426His	rs761415408	missense variant	-	NC_000019.10:g.15362135G>T	ExAC
AKAP8	O43823	p.Asp427Asn	rs61757660	missense variant	-	NC_000019.10:g.15362133C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp427His	rs61757660	missense variant	-	NC_000019.10:g.15362133C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val430Met	rs776997042	missense variant	-	NC_000019.10:g.15362124C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val430Leu	rs776997042	missense variant	-	NC_000019.10:g.15362124C>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val438Leu	COSM3970768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15361813C>G	NCI-TCGA Cosmic
AKAP8	O43823	p.Lys442Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15361799C>G	NCI-TCGA
AKAP8	O43823	p.Lys443Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15361797T>G	NCI-TCGA
AKAP8	O43823	p.Ile444Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15361793A>C	NCI-TCGA
AKAP8	O43823	p.Arg447Trp	rs536847592	missense variant	-	NC_000019.10:g.15361786G>A	1000Genomes,ExAC,gnomAD
AKAP8	O43823	p.Arg447Gln	rs201453989	missense variant	-	NC_000019.10:g.15361785C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg448His	rs754160659	missense variant	-	NC_000019.10:g.15361782C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg448Cys	rs758017011	missense variant	-	NC_000019.10:g.15361783G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu450Asp	rs1254665162	missense variant	-	NC_000019.10:g.15361775T>A	TOPMed
AKAP8	O43823	p.Glu450Lys	rs1312940124	missense variant	-	NC_000019.10:g.15361777C>T	TOPMed
AKAP8	O43823	p.Leu451Ser	rs1218925466	missense variant	-	NC_000019.10:g.15361773A>G	gnomAD
AKAP8	O43823	p.Leu451Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15361772C>G	NCI-TCGA
AKAP8	O43823	p.Glu453Gln	rs139715279	missense variant	-	NC_000019.10:g.15361768C>G	ESP,ExAC,gnomAD
AKAP8	O43823	p.Glu455Lys	rs1191921591	missense variant	-	NC_000019.10:g.15361762C>T	gnomAD
AKAP8	O43823	p.Thr456Ile	rs1263020783	missense variant	-	NC_000019.10:g.15361758G>A	TOPMed
AKAP8	O43823	p.Ala457Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15361755G>A	NCI-TCGA
AKAP8	O43823	p.Ala457Thr	rs767746415	missense variant	-	NC_000019.10:g.15361756C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys458Gln	rs761963157	missense variant	-	NC_000019.10:g.15361753T>G	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys458Glu	rs761963157	missense variant	-	NC_000019.10:g.15361753T>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro459Thr	rs113475650	missense variant	-	NC_000019.10:g.15361750G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro459Leu	rs374602063	missense variant	-	NC_000019.10:g.15361749G>A	ESP,TOPMed,gnomAD
AKAP8	O43823	p.Pro461Leu	rs184278305	missense variant	-	NC_000019.10:g.15361743G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp462Gly	rs201801143	missense variant	-	NC_000019.10:g.15361740T>C	1000Genomes
AKAP8	O43823	p.Pro463Ala	rs1450546468	missense variant	-	NC_000019.10:g.15361738G>C	TOPMed,gnomAD
AKAP8	O43823	p.Pro463Leu	rs1443202876	missense variant	-	NC_000019.10:g.15361737G>A	gnomAD
AKAP8	O43823	p.Phe464Leu	rs963109568	missense variant	-	NC_000019.10:g.15361733G>C	TOPMed,gnomAD
AKAP8	O43823	p.Gly466Glu	rs533062877	missense variant	-	NC_000019.10:g.15360978C>T	1000Genomes,ExAC,gnomAD
AKAP8	O43823	p.Gly466Arg	rs1295320581	missense variant	-	NC_000019.10:g.15361729C>T	TOPMed
AKAP8	O43823	p.Ile467Thr	rs1189963170	missense variant	-	NC_000019.10:g.15360975A>G	gnomAD
AKAP8	O43823	p.Gln469Arg	rs761408669	missense variant	-	NC_000019.10:g.15360969T>C	ExAC,gnomAD
AKAP8	O43823	p.His471Leu	rs962665377	missense variant	-	NC_000019.10:g.15360963T>A	TOPMed
AKAP8	O43823	p.Phe473Leu	rs748890822	missense variant	-	NC_000019.10:g.15360956G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Phe473Leu	rs748890822	missense variant	-	NC_000019.10:g.15360956G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Phe473Leu	rs768429460	missense variant	-	NC_000019.10:g.15360958A>G	ExAC,gnomAD
AKAP8	O43823	p.Ile476Met	rs201828341	missense variant	-	NC_000019.10:g.15360947G>C	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.His480Asp	rs1340390312	missense variant	-	NC_000019.10:g.15360937G>C	gnomAD
AKAP8	O43823	p.Leu482Val	rs758778668	missense variant	-	NC_000019.10:g.15360931G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Cys484Tyr	COSM4074999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15360924C>T	NCI-TCGA Cosmic
AKAP8	O43823	p.Asp485Asn	rs1281399736	missense variant	-	NC_000019.10:g.15360922C>T	gnomAD
AKAP8	O43823	p.Met486Thr	rs377455281	missense variant	-	NC_000019.10:g.15360918A>G	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Leu487Val	rs1166758130	missense variant	-	NC_000019.10:g.15360916G>C	TOPMed,gnomAD
AKAP8	O43823	p.Gln491Lys	rs754057316	missense variant	-	NC_000019.10:g.15360904G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln491Arg	rs766206242	missense variant	-	NC_000019.10:g.15360903T>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln491Glu	rs754057316	missense variant	-	NC_000019.10:g.15360904G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln491Ter	COSM992163	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.15360904G>A	NCI-TCGA Cosmic
AKAP8	O43823	p.Pro492Leu	rs762573325	missense variant	-	NC_000019.10:g.15360900G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln493His	rs767522013	missense variant	-	NC_000019.10:g.15360896C>G	ExAC,gnomAD
AKAP8	O43823	p.Leu495Phe	rs774012866	missense variant	-	NC_000019.10:g.15360892G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg497Gln	rs775251991	missense variant	-	NC_000019.10:g.15360885C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Arg497Trp	rs762759792	missense variant	-	NC_000019.10:g.15360886G>A	ExAC,gnomAD
AKAP8	O43823	p.His500Arg	rs369955411	missense variant	-	NC_000019.10:g.15360876T>C	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val502Met	rs773404765	missense variant	-	NC_000019.10:g.15360871C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asn505Ser	rs748593622	missense variant	-	NC_000019.10:g.15360861T>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asn505Asp	rs150603939	missense variant	-	NC_000019.10:g.15360862T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.His506Arg	rs779034859	missense variant	-	NC_000019.10:g.15360858T>C	ExAC,gnomAD
AKAP8	O43823	p.His506Gln	rs1399340934	missense variant	-	NC_000019.10:g.15360857G>C	gnomAD
AKAP8	O43823	p.Asn507Ser	rs755021697	missense variant	-	NC_000019.10:g.15360855T>C	ExAC,gnomAD
AKAP8	O43823	p.Arg508Cys	rs917011855	missense variant	-	NC_000019.10:g.15360853G>A	TOPMed,gnomAD
AKAP8	O43823	p.Arg508His	rs1272082169	missense variant	-	NC_000019.10:g.15360852C>T	TOPMed
AKAP8	O43823	p.Leu510Phe	rs779932239	missense variant	-	NC_000019.10:g.15359060C>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala512Thr	rs756373724	missense variant	-	NC_000019.10:g.15359056C>T	ExAC,gnomAD
AKAP8	O43823	p.Glu513Gln	rs746067463	missense variant	-	NC_000019.10:g.15359053C>G	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln514His	rs531108041	missense variant	-	NC_000019.10:g.15359048C>A	1000Genomes,ExAC,gnomAD
AKAP8	O43823	p.Thr518Ile	rs757085860	missense variant	-	NC_000019.10:g.15359037G>A	ExAC,gnomAD
AKAP8	O43823	p.Ser519Thr	rs751596065	missense variant	-	NC_000019.10:g.15359034C>G	ExAC,gnomAD
AKAP8	O43823	p.Leu520Val	rs1369399185	missense variant	-	NC_000019.10:g.15359032G>C	TOPMed
AKAP8	O43823	p.Leu520Phe	rs1369399185	missense variant	-	NC_000019.10:g.15359032G>A	TOPMed
AKAP8	O43823	p.His521Arg	rs1407622749	missense variant	-	NC_000019.10:g.15359028T>C	TOPMed
AKAP8	O43823	p.Val522Met	rs764149757	missense variant	-	NC_000019.10:g.15359026C>T	ExAC,gnomAD
AKAP8	O43823	p.Lys524Arg	rs758367334	missense variant	-	NC_000019.10:g.15359019T>C	ExAC,gnomAD
AKAP8	O43823	p.Leu527Val	rs1406016403	missense variant	-	NC_000019.10:g.15359011A>C	gnomAD
AKAP8	O43823	p.Leu527Phe	COSM4848187	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15359009C>G	NCI-TCGA Cosmic
AKAP8	O43823	p.Asn528Lys	rs76501168	missense variant	-	NC_000019.10:g.15359006G>T	ExAC,gnomAD
AKAP8	O43823	p.His531Asn	rs764590480	missense variant	-	NC_000019.10:g.15358999G>T	ExAC,TOPMed
AKAP8	O43823	p.Ile532Thr	rs1227485832	missense variant	-	NC_000019.10:g.15358995A>G	TOPMed
AKAP8	O43823	p.Val533Ala	rs141841312	missense variant	-	NC_000019.10:g.15358992A>G	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys534Gln	COSM1480708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15358990T>G	NCI-TCGA Cosmic
AKAP8	O43823	p.Lys534Arg	COSM3529620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15358989T>C	NCI-TCGA Cosmic
AKAP8	O43823	p.Glu537Gln	rs1186425037	missense variant	-	NC_000019.10:g.15358981C>G	gnomAD
AKAP8	O43823	p.Lys538Gln	rs1486903911	missense variant	-	NC_000019.10:g.15358978T>G	gnomAD
AKAP8	O43823	p.Tyr539Cys	rs113780353	missense variant	-	NC_000019.10:g.15358974T>C	ExAC
AKAP8	O43823	p.Glu543Lys	rs1395733803	missense variant	-	NC_000019.10:g.15355367C>T	gnomAD
AKAP8	O43823	p.Asp544Ala	rs1446120256	missense variant	-	NC_000019.10:g.15355363T>G	gnomAD
AKAP8	O43823	p.Thr547Ile	rs1180884860	missense variant	-	NC_000019.10:g.15355354G>A	gnomAD
AKAP8	O43823	p.Val551Ile	rs1187703234	missense variant	-	NC_000019.10:g.15355343C>T	gnomAD
AKAP8	O43823	p.Pro553Arg	rs748168148	missense variant	-	NC_000019.10:g.15355336G>C	ExAC,TOPMed
AKAP8	O43823	p.Gly557Glu	rs753296829	missense variant	-	NC_000019.10:g.15355324C>T	ExAC,gnomAD
AKAP8	O43823	p.Gly557Arg	rs138139780	missense variant	-	NC_000019.10:g.15355325C>T	ESP,ExAC
AKAP8	O43823	p.Asp558Tyr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15355322C>A	NCI-TCGA
AKAP8	O43823	p.Asp559Asn	rs1203564968	missense variant	-	NC_000019.10:g.15355319C>T	gnomAD
AKAP8	O43823	p.Asn560Ser	rs1198090630	missense variant	-	NC_000019.10:g.15355315T>C	TOPMed
AKAP8	O43823	p.Glu564Asp	rs1215201215	missense variant	-	NC_000019.10:g.15355302C>G	gnomAD
AKAP8	O43823	p.Glu564Lys	rs1243576266	missense variant	-	NC_000019.10:g.15355304C>T	gnomAD
AKAP8	O43823	p.Asp565Tyr	rs1347298709	missense variant	-	NC_000019.10:g.15355301C>A	gnomAD
AKAP8	O43823	p.Lys567Arg	rs147009364	missense variant	-	NC_000019.10:g.15355294T>C	ESP,TOPMed
AKAP8	O43823	p.Glu568Gly	rs1301495550	missense variant	-	NC_000019.10:g.15355291T>C	gnomAD
AKAP8	O43823	p.Thr569Pro	rs755822440	missense variant	-	NC_000019.10:g.15355289T>G	ExAC,gnomAD
AKAP8	O43823	p.Pro570Ser	rs764484665	missense variant	-	NC_000019.10:g.15355286G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro570Thr	rs764484665	missense variant	-	NC_000019.10:g.15355286G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val573Ala	rs1297892805	missense variant	-	NC_000019.10:g.15355276A>G	gnomAD
AKAP8	O43823	p.Ala574Asp	rs1440484198	missense variant	-	NC_000019.10:g.15355273G>T	gnomAD
AKAP8	O43823	p.Ala575Thr	rs1472042670	missense variant	-	NC_000019.10:g.15355271C>T	TOPMed
AKAP8	O43823	p.Ala575Glu	rs765693748	missense variant	-	NC_000019.10:g.15355270G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala575Val	rs765693748	missense variant	-	NC_000019.10:g.15355270G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp576Val	rs1394013997	missense variant	-	NC_000019.10:g.15355267T>A	gnomAD
AKAP8	O43823	p.Val577Ile	rs138652097	missense variant	-	NC_000019.10:g.15355265C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Leu578Val	rs909104923	missense variant	-	NC_000019.10:g.15355262A>C	TOPMed
AKAP8	O43823	p.Glu580Gly	rs773549065	missense variant	-	NC_000019.10:g.15355255T>C	ExAC,gnomAD
AKAP8	O43823	p.Glu580Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15355256C>T	NCI-TCGA
AKAP8	O43823	p.Val581Ala	rs200241726	missense variant	-	NC_000019.10:g.15355252A>G	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ile582Met	rs747928960	missense variant	-	NC_000019.10:g.15355248A>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Thr583Ile	rs774133689	missense variant	-	NC_000019.10:g.15355246G>A	ExAC,gnomAD
AKAP8	O43823	p.Ala584Glu	rs1278366290	missense variant	-	NC_000019.10:g.15355243G>T	gnomAD
AKAP8	O43823	p.Ala584Pro	rs1485376392	missense variant	-	NC_000019.10:g.15355244C>G	TOPMed,gnomAD
AKAP8	O43823	p.Val586Glu	rs375385159	missense variant	-	NC_000019.10:g.15355237A>T	ESP,ExAC,gnomAD
AKAP8	O43823	p.Val586Met	rs749235652	missense variant	-	NC_000019.10:g.15355238C>T	ExAC,gnomAD
AKAP8	O43823	p.Val586Leu	rs749235652	missense variant	-	NC_000019.10:g.15355238C>G	ExAC,gnomAD
AKAP8	O43823	p.Ala588Val	rs978900886	missense variant	-	NC_000019.10:g.15355231G>A	TOPMed,gnomAD
AKAP8	O43823	p.Ala588Ser	rs755591473	missense variant	-	NC_000019.10:g.15355232C>A	ExAC,gnomAD
AKAP8	O43823	p.Val589Ile	rs150076099	missense variant	-	NC_000019.10:g.15355229C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val589Ala	rs756893665	missense variant	-	NC_000019.10:g.15355228A>G	ExAC,gnomAD
AKAP8	O43823	p.Gly591Arg	rs576285040	missense variant	-	NC_000019.10:g.15355223C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly593Arg	COSM1304109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15355217C>T	NCI-TCGA Cosmic
AKAP8	O43823	p.Ala594Gly	rs765576072	missense variant	-	NC_000019.10:g.15355213G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala594Val	rs765576072	missense variant	-	NC_000019.10:g.15355213G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala594Glu	rs765576072	missense variant	-	NC_000019.10:g.15355213G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro595Ala	rs921338802	missense variant	-	NC_000019.10:g.15355211G>C	TOPMed
AKAP8	O43823	p.Ala596Thr	rs61757661	missense variant	-	NC_000019.10:g.15355208C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser599Arg	rs773387673	missense variant	-	NC_000019.10:g.15355199T>G	ExAC,gnomAD
AKAP8	O43823	p.Ser600Thr	rs767857353	missense variant	-	NC_000019.10:g.15355195C>G	ExAC,gnomAD
AKAP8	O43823	p.Gly601Arg	rs774075327	missense variant	-	NC_000019.10:g.15355193C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly601Glu	rs1260330774	missense variant	-	NC_000019.10:g.15355192C>T	gnomAD
AKAP8	O43823	p.Gly601Arg	rs774075327	missense variant	-	NC_000019.10:g.15355193C>G	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu602Asp	rs370347087	missense variant	-	NC_000019.10:g.15355188C>G	ESP,gnomAD
AKAP8	O43823	p.Glu602Gln	rs768497457	missense variant	-	NC_000019.10:g.15355190C>G	ExAC,gnomAD
AKAP8	O43823	p.Pro603Ser	rs1271119677	missense variant	-	NC_000019.10:g.15355187G>A	gnomAD
AKAP8	O43823	p.Pro603Leu	rs375669146	missense variant	-	NC_000019.10:g.15355186G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp606Glu	rs745410158	missense variant	-	NC_000019.10:g.15355176G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp606Glu	rs745410158	missense variant	-	NC_000019.10:g.15355176G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu607Lys	rs374086322	missense variant	-	NC_000019.10:g.15355175C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu607Ala	rs146444610	missense variant	-	NC_000019.10:g.15355174T>G	ESP,gnomAD
AKAP8	O43823	p.Pro609Ser	rs376050255	missense variant	-	NC_000019.10:g.15355169G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Thr610Ser	rs950616458	missense variant	-	NC_000019.10:g.15355166T>A	TOPMed,gnomAD
AKAP8	O43823	p.Thr610Ala	rs950616458	missense variant	-	NC_000019.10:g.15355166T>C	TOPMed,gnomAD
AKAP8	O43823	p.Thr610Met	rs144064099	missense variant	-	NC_000019.10:g.15355165G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp611Tyr	rs755337627	missense variant	-	NC_000019.10:g.15355163C>A	ExAC,gnomAD
AKAP8	O43823	p.Ala613Val	rs375883591	missense variant	-	NC_000019.10:g.15355156G>A	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala613Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15355157C>A	NCI-TCGA
AKAP8	O43823	p.Gly616Ser	rs200385214	missense variant	-	NC_000019.10:g.15355148C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gly616Asp	rs767626174	missense variant	-	NC_000019.10:g.15355147C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser617Asn	rs1213418255	missense variant	-	NC_000019.10:g.15355144C>T	gnomAD
AKAP8	O43823	p.Asp618Gly	rs1234503786	missense variant	-	NC_000019.10:g.15355141T>C	gnomAD
AKAP8	O43823	p.Asp618Asn	rs751777249	missense variant	-	NC_000019.10:g.15355142C>T	ExAC,gnomAD
AKAP8	O43823	p.Gln620Ter	rs1294151965	stop gained	-	NC_000019.10:g.15355136G>A	gnomAD
AKAP8	O43823	p.Glu622Lys	rs571638097	missense variant	-	NC_000019.10:g.15355130C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu622Gln	rs571638097	missense variant	-	NC_000019.10:g.15355130C>G	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Gln623Ter	rs775222031	stop gained	-	NC_000019.10:g.15355127G>A	ExAC,gnomAD
AKAP8	O43823	p.Pro630Leu	rs1044518760	missense variant	-	NC_000019.10:g.15355105G>A	TOPMed
AKAP8	O43823	p.Thr633Arg	rs148784064	missense variant	-	NC_000019.10:g.15355096G>C	ESP,ExAC,gnomAD
AKAP8	O43823	p.Thr633Met	rs148784064	missense variant	-	NC_000019.10:g.15355096G>A	ESP,ExAC,gnomAD
AKAP8	O43823	p.His635Pro	rs770469145	missense variant	-	NC_000019.10:g.15355090T>G	ExAC,gnomAD
AKAP8	O43823	p.Glu636Lys	rs1160119484	missense variant	-	NC_000019.10:g.15355088C>T	TOPMed
AKAP8	O43823	p.Val639Ile	rs777457097	missense variant	-	NC_000019.10:g.15355079C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Lys641Gln	rs1392876105	missense variant	-	NC_000019.10:g.15355073T>G	TOPMed
AKAP8	O43823	p.Arg643Thr	rs1193297378	missense variant	-	NC_000019.10:g.15355066C>G	gnomAD
AKAP8	O43823	p.Ala646Val	rs1467408566	missense variant	-	NC_000019.10:g.15355057G>A	TOPMed,gnomAD
AKAP8	O43823	p.Glu648Gly	rs771586432	missense variant	-	NC_000019.10:g.15355051T>C	ExAC,gnomAD
AKAP8	O43823	p.Glu648Lys	COSM709702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15355052C>T	NCI-TCGA Cosmic
AKAP8	O43823	p.Ala649Gly	rs1214709424	missense variant	-	NC_000019.10:g.15355048G>C	gnomAD
AKAP8	O43823	p.Ala649Thr	rs1368833958	missense variant	-	NC_000019.10:g.15355049C>T	TOPMed
AKAP8	O43823	p.Asn651Lys	rs780508322	missense variant	-	NC_000019.10:g.15355041A>T	ExAC,gnomAD
AKAP8	O43823	p.Ala653Thr	rs569129129	missense variant	-	NC_000019.10:g.15355037C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu654Lys	rs145418809	missense variant	-	NC_000019.10:g.15355034C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala658Ser	rs764405941	missense variant	-	NC_000019.10:g.15355022C>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala658Thr	rs764405941	missense variant	-	NC_000019.10:g.15355022C>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Glu659Gln	rs1387158337	missense variant	-	NC_000019.10:g.15355019C>G	TOPMed,gnomAD
AKAP8	O43823	p.Ala660Thr	rs763092973	missense variant	-	NC_000019.10:g.15355016C>T	ExAC,gnomAD
AKAP8	O43823	p.Glu661Gln	rs947540357	missense variant	-	NC_000019.10:g.15355013C>G	TOPMed
AKAP8	O43823	p.Ser662Gly	rs752498693	missense variant	-	NC_000019.10:g.15355010T>C	ExAC,gnomAD
AKAP8	O43823	p.Ser662Arg	rs752498693	missense variant	-	NC_000019.10:g.15355010T>G	ExAC,gnomAD
AKAP8	O43823	p.Ala663Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.15355006G>C	NCI-TCGA
AKAP8	O43823	p.Gln664Pro	rs1173249581	missense variant	-	NC_000019.10:g.15355003T>G	gnomAD
AKAP8	O43823	p.Gln664Glu	rs1390931974	missense variant	-	NC_000019.10:g.15355004G>C	gnomAD
AKAP8	O43823	p.Gln664His	VAR_036534	Missense	-	-	UniProt
AKAP8	O43823	p.Arg666Gly	rs1397131057	missense variant	-	NC_000019.10:g.15354998T>C	gnomAD
AKAP8	O43823	p.Arg666Thr	COSM460040	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15354997C>G	NCI-TCGA Cosmic
AKAP8	O43823	p.Arg666Lys	rs369631726	missense variant	-	NC_000019.10:g.15354997C>T	ESP,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Val667Ile	rs776598548	missense variant	-	NC_000019.10:g.15354995C>T	ExAC,gnomAD
AKAP8	O43823	p.Val667Gly	rs1259154452	missense variant	-	NC_000019.10:g.15354994A>C	gnomAD
AKAP8	O43823	p.Pro671Leu	rs760265810	missense variant	-	NC_000019.10:g.15354982G>A	ExAC
AKAP8	O43823	p.Ala672Val	rs1481319848	missense variant	-	NC_000019.10:g.15354979G>A	gnomAD
AKAP8	O43823	p.Ala674Val	rs560315178	missense variant	-	NC_000019.10:g.15354973G>A	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala674Ser	rs139907510	missense variant	-	NC_000019.10:g.15354974C>A	ESP,TOPMed,gnomAD
AKAP8	O43823	p.Ala674Thr	rs139907510	missense variant	-	NC_000019.10:g.15354974C>T	ESP,TOPMed,gnomAD
AKAP8	O43823	p.Asp675Asn	rs1369954322	missense variant	-	NC_000019.10:g.15354971C>T	TOPMed
AKAP8	O43823	p.Val678Leu	rs1305220315	missense variant	-	NC_000019.10:g.15354962C>A	gnomAD
AKAP8	O43823	p.Gln680Pro	rs1285760515	missense variant	-	NC_000019.10:g.15354955T>G	gnomAD
AKAP8	O43823	p.Thr681Ala	COSM4074997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.15354953T>C	NCI-TCGA Cosmic
AKAP8	O43823	p.Asp682Glu	rs201831883	missense variant	-	NC_000019.10:g.15354948A>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Asp682Val	rs1233669054	missense variant	-	NC_000019.10:g.15354949T>A	gnomAD
AKAP8	O43823	p.Ala683Gly	rs768511127	missense variant	-	NC_000019.10:g.15354946G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser685Tyr	rs781734939	missense variant	-	NC_000019.10:g.15354940G>T	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser685Cys	rs781734939	missense variant	-	NC_000019.10:g.15354940G>C	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ser685Phe	rs781734939	missense variant	-	NC_000019.10:g.15354940G>A	ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Ala688Gly	rs758673111	missense variant	-	NC_000019.10:g.15354931G>C	ExAC,gnomAD
AKAP8	O43823	p.Ala688Thr	rs749222352	missense variant	-	NC_000019.10:g.15354932C>T	ExAC,gnomAD
AKAP8	O43823	p.Val689Ile	rs145842466	missense variant	-	NC_000019.10:g.15354929C>T	1000Genomes,ExAC,TOPMed,gnomAD
AKAP8	O43823	p.Pro690Leu	rs765056046	missense variant	-	NC_000019.10:g.15354925G>A	ExAC,gnomAD
AKAP8	O43823	p.Thr691Arg	rs1315326512	missense variant	-	NC_000019.10:g.15354922G>C	TOPMed
NUAK1	O60285	p.Glu2Lys	rs749623403	missense variant	-	NC_000012.12:g.106138650C>T	ExAC,gnomAD
NUAK1	O60285	p.Gly3Glu	rs1157606361	missense variant	-	NC_000012.12:g.106138646C>T	gnomAD
NUAK1	O60285	p.Gly3Arg	rs56402800	missense variant	-	NC_000012.12:g.106138647C>T	TOPMed,gnomAD
NUAK1	O60285	p.Gly3Arg	rs56402800	missense variant	-	NC_000012.12:g.106138647C>G	TOPMed,gnomAD
NUAK1	O60285	p.Ala4Ser	rs1418981735	missense variant	-	NC_000012.12:g.106138644C>A	gnomAD
NUAK1	O60285	p.Ala5Gly	rs756547098	missense variant	-	NC_000012.12:g.106138640G>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ala5Asp	rs756547098	missense variant	-	NC_000012.12:g.106138640G>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ala6Thr	rs752828561	missense variant	-	NC_000012.12:g.106138638C>T	ExAC,gnomAD
NUAK1	O60285	p.Val8Met	rs568710120	missense variant	-	NC_000012.12:g.106138632C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ala9Val	rs1312786713	missense variant	-	NC_000012.12:g.106138628G>A	TOPMed
NUAK1	O60285	p.Ala9Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106138628G>T	NCI-TCGA
NUAK1	O60285	p.Gly10Arg	rs755035607	missense variant	-	NC_000012.12:g.106138626C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asp11Gly	rs201298691	missense variant	-	NC_000012.12:g.106138622T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg12His	rs765123265	missense variant	-	NC_000012.12:g.106138619C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro13Ala	rs1359838131	missense variant	-	NC_000012.12:g.106138617G>C	TOPMed,gnomAD
NUAK1	O60285	p.Pro13Ser	rs1359838131	missense variant	-	NC_000012.12:g.106138617G>A	TOPMed,gnomAD
NUAK1	O60285	p.Asp14Asn	rs1259017689	missense variant	-	NC_000012.12:g.106138614C>T	gnomAD
NUAK1	O60285	p.Leu15Met	rs1236865022	missense variant	-	NC_000012.12:g.106138611A>T	TOPMed,gnomAD
NUAK1	O60285	p.Gly16Arg	rs1301728043	missense variant	-	NC_000012.12:g.106138608C>G	TOPMed,gnomAD
NUAK1	O60285	p.Leu17Met	rs1220685109	missense variant	-	NC_000012.12:g.106138605G>T	gnomAD
NUAK1	O60285	p.Ala19Thr	rs375088646	missense variant	-	NC_000012.12:g.106138599C>T	ESP,ExAC,gnomAD
NUAK1	O60285	p.Pro20Leu	rs1390261166	missense variant	-	NC_000012.12:g.106138595G>A	TOPMed,gnomAD
NUAK1	O60285	p.Pro20Ser	rs940897851	missense variant	-	NC_000012.12:g.106138596G>A	TOPMed
NUAK1	O60285	p.Gly21Asp	rs760586653	missense variant	-	NC_000012.12:g.106138592C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gly21Val	rs760586653	missense variant	-	NC_000012.12:g.106138592C>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser22Cys	rs369767838	missense variant	-	NC_000012.12:g.106138589G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser22Phe	rs369767838	missense variant	-	NC_000012.12:g.106138589G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro23Thr	rs1378024955	missense variant	-	NC_000012.12:g.106138587G>T	TOPMed
NUAK1	O60285	p.Pro23Leu	rs774028905	missense variant	-	NC_000012.12:g.106138586G>A	ExAC,gnomAD
NUAK1	O60285	p.Pro23Ser	rs1378024955	missense variant	-	NC_000012.12:g.106138587G>A	TOPMed
NUAK1	O60285	p.Glu25Ter	COSM934360	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106138581C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Glu25Gly	rs1478048947	missense variant	-	NC_000012.12:g.106138580T>C	TOPMed,gnomAD
NUAK1	O60285	p.Glu25Lys	rs1451544030	missense variant	-	NC_000012.12:g.106138581C>T	gnomAD
NUAK1	O60285	p.Val27Gly	rs1318511676	missense variant	-	NC_000012.12:g.106138574A>C	TOPMed
NUAK1	O60285	p.Ala28Thr	rs1204567033	missense variant	-	NC_000012.12:g.106138572C>T	gnomAD
NUAK1	O60285	p.Gly29Arg	rs1256468216	missense variant	-	NC_000012.12:g.106138569C>T	gnomAD
NUAK1	O60285	p.Ala30ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.106138566C>-	NCI-TCGA
NUAK1	O60285	p.Ala32Val	rs770046602	missense variant	-	NC_000012.12:g.106138559G>A	ExAC,gnomAD
NUAK1	O60285	p.Ala33Gly	rs748601284	missense variant	-	NC_000012.12:g.106138556G>C	ExAC,gnomAD
NUAK1	O60285	p.Leu34Arg	rs751592845	missense variant	-	NC_000012.12:g.106138553A>C	NCI-TCGA,NCI-TCGA Cosmic
NUAK1	O60285	p.Leu34Pro	rs751592845	missense variant	-	NC_000012.12:g.106138553A>G	ExAC,gnomAD
NUAK1	O60285	p.Leu34Arg	rs751592845	missense variant	-	NC_000012.12:g.106138553A>C	ExAC,gnomAD
NUAK1	O60285	p.Glu35Asp	rs1210597698	missense variant	-	NC_000012.12:g.106138549C>A	TOPMed
NUAK1	O60285	p.Pro36Arg	rs1403565470	missense variant	-	NC_000012.12:g.106138547G>C	gnomAD
NUAK1	O60285	p.Lys38Asn	rs1375285471	missense variant	-	NC_000012.12:g.106138540C>A	TOPMed,gnomAD
NUAK1	O60285	p.Pro39Leu	rs1169618816	missense variant	-	NC_000012.12:g.106138538G>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Pro39Gln	rs1169618816	missense variant	-	NC_000012.12:g.106138538G>T	TOPMed,gnomAD
NUAK1	O60285	p.Pro39Leu	rs1169618816	missense variant	-	NC_000012.12:g.106138538G>A	TOPMed,gnomAD
NUAK1	O60285	p.His40Gln	rs1483925718	missense variant	-	NC_000012.12:g.106138534G>T	TOPMed,gnomAD
NUAK1	O60285	p.Gly41Trp	rs1371496712	missense variant	-	NC_000012.12:g.106138533C>A	gnomAD
NUAK1	O60285	p.Val42Met	rs1192593863	missense variant	-	NC_000012.12:g.106138530C>T	gnomAD
NUAK1	O60285	p.Arg44Pro	rs1427869585	missense variant	-	NC_000012.12:g.106138523C>G	TOPMed
NUAK1	O60285	p.Lys48Asn	rs753715382	missense variant	-	NC_000012.12:g.106138510C>A	ExAC,gnomAD
NUAK1	O60285	p.Asn50Ser	rs764152329	missense variant	-	NC_000012.12:g.106138505T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asn50Ile	rs764152329	missense variant	-	NC_000012.12:g.106138505T>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg54His	rs752539069	missense variant	-	NC_000012.12:g.106138493C>T	ExAC,gnomAD
NUAK1	O60285	p.Arg54His	rs752539069	missense variant	-	NC_000012.12:g.106138493C>T	NCI-TCGA,NCI-TCGA Cosmic
NUAK1	O60285	p.Tyr55Ter	rs767237376	stop gained	-	NC_000012.12:g.106138489G>T	ExAC,gnomAD
NUAK1	O60285	p.Glu56Lys	rs759284474	missense variant	-	NC_000012.12:g.106138488C>T	ExAC,gnomAD
NUAK1	O60285	p.Gln58Arg	rs774196515	missense variant	-	NC_000012.12:g.106138481T>C	ExAC,gnomAD
NUAK1	O60285	p.Glu59Ter	COSM4038248	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106138479C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Glu59Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106138477C>A	NCI-TCGA
NUAK1	O60285	p.Leu61Val	rs1226096586	missense variant	-	NC_000012.12:g.106138473G>C	gnomAD
NUAK1	O60285	p.Thr65Ser	rs1294580266	missense variant	-	NC_000012.12:g.106138461T>A	gnomAD
NUAK1	O60285	p.Gly67Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106138454C>T	NCI-TCGA
NUAK1	O60285	p.Lys70Arg	rs770530605	missense variant	-	NC_000012.12:g.106138445T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg71Gln	rs957267584	missense variant	-	NC_000012.12:g.106138442C>T	TOPMed,gnomAD
NUAK1	O60285	p.Glu74Asp	rs1398854614	missense variant	-	NC_000012.12:g.106138432C>G	TOPMed
NUAK1	O60285	p.Arg75Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106138430C>A	NCI-TCGA
NUAK1	O60285	p.Ser77Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106138424G>A	NCI-TCGA
NUAK1	O60285	p.Gly78Asp	rs773578237	missense variant	-	NC_000012.12:g.106138421C>T	ExAC,gnomAD
NUAK1	O60285	p.Gly78Ser	rs762587360	missense variant	-	NC_000012.12:g.106138422C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg79Gln	rs770346153	missense variant	-	NC_000012.12:g.106138418C>T	ExAC,gnomAD
NUAK1	O60285	p.Arg79Gly	rs1370327590	missense variant	-	NC_000012.12:g.106138419G>C	gnomAD
NUAK1	O60285	p.Val81Phe	rs772812830	missense variant	-	NC_000012.12:g.106106525C>A	ExAC,gnomAD
NUAK1	O60285	p.Val81Ala	rs1476890398	missense variant	-	NC_000012.12:g.106106524A>G	TOPMed
NUAK1	O60285	p.Lys84Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106106515T>G	NCI-TCGA
NUAK1	O60285	p.Ile86Val	rs765614152	missense variant	-	NC_000012.12:g.106106510T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg87His	rs769008203	missense variant	-	NC_000012.12:g.106106506C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg87Gly	rs188490096	missense variant	-	NC_000012.12:g.106106507G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg87Cys	rs188490096	missense variant	-	NC_000012.12:g.106106507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg87Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106106506C>G	NCI-TCGA
NUAK1	O60285	p.Asp89Gly	rs775635190	missense variant	-	NC_000012.12:g.106106500T>C	ExAC,gnomAD
NUAK1	O60285	p.Asp89Val	rs775635190	missense variant	-	NC_000012.12:g.106106500T>A	ExAC,gnomAD
NUAK1	O60285	p.Asp89Glu	rs772345606	missense variant	-	NC_000012.12:g.106106499G>C	ExAC,gnomAD
NUAK1	O60285	p.Asp89Glu	rs772345606	missense variant	-	NC_000012.12:g.106106499G>T	ExAC,gnomAD
NUAK1	O60285	p.Ile91Thr	rs944516685	missense variant	-	NC_000012.12:g.106106494A>G	TOPMed
NUAK1	O60285	p.Lys92Gln	rs1362871677	missense variant	-	NC_000012.12:g.106106492T>G	TOPMed
NUAK1	O60285	p.Asp93Gly	rs907646372	missense variant	-	NC_000012.12:g.106106488T>C	TOPMed
NUAK1	O60285	p.Met97Ile	COSM415647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106106475C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Met97Val	rs147433989	missense variant	-	NC_000012.12:g.106106477T>C	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.His99Tyr	rs1279338206	missense variant	-	NC_000012.12:g.106106471G>A	gnomAD
NUAK1	O60285	p.Arg101Ter	rs748063288	stop gained	-	NC_000012.12:g.106106465T>A	ExAC,gnomAD
NUAK1	O60285	p.Arg102Gln	rs781345878	missense variant	-	NC_000012.12:g.106106461C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Glu103Gln	rs1440404833	missense variant	-	NC_000012.12:g.106106459C>G	gnomAD
NUAK1	O60285	p.Glu103Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106106457C>G	NCI-TCGA
NUAK1	O60285	p.Ile104Phe	rs1224777821	missense variant	-	NC_000012.12:g.106106456T>A	TOPMed
NUAK1	O60285	p.Ile106Val	rs1389548100	missense variant	-	NC_000012.12:g.106106450T>C	gnomAD
NUAK1	O60285	p.Leu110Val	rs1345074497	missense variant	-	NC_000012.12:g.106106438G>C	TOPMed
NUAK1	O60285	p.Asn111Lys	rs1278047844	missense variant	-	NC_000012.12:g.106106433G>C	TOPMed
NUAK1	O60285	p.Asn111Ser	rs1218595937	missense variant	-	NC_000012.12:g.106106434T>C	TOPMed
NUAK1	O60285	p.His112Arg	rs1402379967	missense variant	-	NC_000012.12:g.106106431T>C	gnomAD
NUAK1	O60285	p.Ile115Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106106423T>C	NCI-TCGA
NUAK1	O60285	p.Tyr119Cys	rs1382621935	missense variant	-	NC_000012.12:g.106106410T>C	gnomAD
NUAK1	O60285	p.Glu120Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.106106408C>A	NCI-TCGA
NUAK1	O60285	p.Val121Met	rs1157810013	missense variant	-	NC_000012.12:g.106106405C>T	gnomAD
NUAK1	O60285	p.Phe122Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.106086874_106086882TGTTCTCAA>-	NCI-TCGA
NUAK1	O60285	p.Glu123Lys	rs1188908140	missense variant	-	NC_000012.12:g.106086880C>T	gnomAD
NUAK1	O60285	p.Asn124Lys	rs1341114266	missense variant	-	NC_000012.12:g.106086875G>C	TOPMed
NUAK1	O60285	p.Asp126His	rs1486938928	missense variant	-	NC_000012.12:g.106086871C>G	gnomAD
NUAK1	O60285	p.Asp126Gly	rs1214778517	missense variant	-	NC_000012.12:g.106086870T>C	TOPMed
NUAK1	O60285	p.Lys127Thr	COSM934358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106086867T>G	NCI-TCGA Cosmic
NUAK1	O60285	p.Ile128Val	rs1481807067	missense variant	-	NC_000012.12:g.106086865T>C	TOPMed
NUAK1	O60285	p.Ile128Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106086864A>G	NCI-TCGA
NUAK1	O60285	p.Met132Thr	rs1210541825	missense variant	-	NC_000012.12:g.106086852A>G	gnomAD
NUAK1	O60285	p.Tyr134Cys	rs557272627	missense variant	-	NC_000012.12:g.106086846T>C	1000Genomes,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ala135Val	rs1213000118	missense variant	-	NC_000012.12:g.106086843G>A	gnomAD
NUAK1	O60285	p.Ser136Asn	COSM934356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106086840C>T	NCI-TCGA Cosmic
NUAK1	O60285	p.Ser136Arg	rs1338881094	missense variant	-	NC_000012.12:g.106086839G>C	gnomAD
NUAK1	O60285	p.Glu139Gly	rs1284844232	missense variant	-	NC_000012.12:g.106086831T>C	gnomAD
NUAK1	O60285	p.Asp142Asn	rs753190492	missense variant	-	NC_000012.12:g.106086823C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asp142Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106086822T>C	NCI-TCGA
NUAK1	O60285	p.Ile144Val	rs964345836	missense variant	-	NC_000012.12:g.106086817T>C	TOPMed
NUAK1	O60285	p.Ile144Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106086816A>G	NCI-TCGA
NUAK1	O60285	p.Glu146Lys	rs1322837007	missense variant	-	NC_000012.12:g.106086811C>T	gnomAD
NUAK1	O60285	p.Arg147Gln	rs763058439	missense variant	-	NC_000012.12:g.106086807C>T	ExAC,gnomAD
NUAK1	O60285	p.Arg147Trp	rs771291112	missense variant	-	NC_000012.12:g.106086808G>A	ExAC,gnomAD
NUAK1	O60285	p.Arg148Pro	rs770050415	missense variant	-	NC_000012.12:g.106086804C>G	ExAC,gnomAD
NUAK1	O60285	p.Arg148Ter	rs773455181	stop gained	-	NC_000012.12:g.106086805G>A	ExAC,gnomAD
NUAK1	O60285	p.Arg148Gln	rs770050415	missense variant	-	NC_000012.12:g.106086804C>T	ExAC,gnomAD
NUAK1	O60285	p.Arg149Ser	rs779923959	missense variant	-	NC_000012.12:g.106086802G>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg149His	rs771887610	missense variant	-	NC_000012.12:g.106086801C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg149Cys	rs779923959	missense variant	-	NC_000012.12:g.106086802G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser151Gly	rs1037908398	missense variant	-	NC_000012.12:g.106086796T>C	gnomAD
NUAK1	O60285	p.Glu152Asp	rs1320753304	missense variant	-	NC_000012.12:g.106086791C>G	TOPMed
NUAK1	O60285	p.Arg153Met	rs778565564	missense variant	-	NC_000012.12:g.106086789C>A	ExAC,gnomAD
NUAK1	O60285	p.Thr155Ile	rs1008405329	missense variant	-	NC_000012.12:g.106086783G>A	TOPMed,gnomAD
NUAK1	O60285	p.Arg156Gln	rs1379241199	missense variant	-	NC_000012.12:g.106086780C>T	TOPMed,gnomAD
NUAK1	O60285	p.Arg160Gln	rs377356382	missense variant	-	NC_000012.12:g.106086768C>T	ExAC,gnomAD
NUAK1	O60285	p.Arg160Trp	rs752482605	missense variant	-	NC_000012.12:g.106086769G>A	TOPMed
NUAK1	O60285	p.Ile162Met	rs267603280	missense variant	-	NC_000012.12:g.106086761G>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Val163Ile	rs139582229	missense variant	-	NC_000012.12:g.106086760C>T	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.His167Arg	rs755658642	missense variant	-	NC_000012.12:g.106086747T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Tyr168Cys	rs767962701	missense variant	-	NC_000012.12:g.106086744T>C	ExAC,gnomAD
NUAK1	O60285	p.Cys169Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106086741C>A	NCI-TCGA
NUAK1	O60285	p.Asn172Tyr	rs1289514577	missense variant	-	NC_000012.12:g.106083929T>A	TOPMed
NUAK1	O60285	p.Gly173Cys	COSM6071112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106083926C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Gly173Ser	rs1011001756	missense variant	-	NC_000012.12:g.106083926C>T	TOPMed
NUAK1	O60285	p.Val174Met	rs765570986	missense variant	-	NC_000012.12:g.106083923C>T	ExAC,gnomAD
NUAK1	O60285	p.His176Arg	rs761888968	missense variant	-	NC_000012.12:g.106083916T>C	ExAC,gnomAD
NUAK1	O60285	p.Arg177Gln	rs1303995716	missense variant	-	NC_000012.12:g.106083913C>T	TOPMed
NUAK1	O60285	p.Arg177Trp	rs776610014	missense variant	-	NC_000012.12:g.106083914G>A	ExAC,gnomAD
NUAK1	O60285	p.Lys180Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.106083905T>A	NCI-TCGA
NUAK1	O60285	p.Glu182Lys	COSM4393905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106083899C>T	NCI-TCGA Cosmic
NUAK1	O60285	p.Glu182Asp	rs1352780890	missense variant	-	NC_000012.12:g.106083897T>A	gnomAD
NUAK1	O60285	p.Ile184Thr	rs1324739837	missense variant	-	NC_000012.12:g.106083892A>G	TOPMed
NUAK1	O60285	p.Leu185Gln	COSM691459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106083889A>T	NCI-TCGA Cosmic
NUAK1	O60285	p.Asp187His	rs770705202	missense variant	-	NC_000012.12:g.106083884C>G	ExAC,gnomAD
NUAK1	O60285	p.Asp187Asn	rs770705202	missense variant	-	NC_000012.12:g.106083884C>T	ExAC,gnomAD
NUAK1	O60285	p.Asp188Asn	rs940668263	missense variant	-	NC_000012.12:g.106083881C>T	TOPMed
NUAK1	O60285	p.Asn189Ser	rs749134438	missense variant	-	NC_000012.12:g.106083877T>C	ExAC,gnomAD
NUAK1	O60285	p.Asn191Ser	rs534706842	missense variant	-	NC_000012.12:g.106083871T>C	1000Genomes
NUAK1	O60285	p.Ile192Met	rs1364733630	missense variant	-	NC_000012.12:g.106083867A>C	gnomAD
NUAK1	O60285	p.Ile194Val	rs1196074651	missense variant	-	NC_000012.12:g.106072843T>C	gnomAD
NUAK1	O60285	p.Ala195Thr	rs1180719772	missense variant	-	NC_000012.12:g.106072840C>T	TOPMed
NUAK1	O60285	p.Gly198Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106072830C>A	NCI-TCGA
NUAK1	O60285	p.Leu199Phe	rs1217424346	missense variant	-	NC_000012.12:g.106072828G>A	gnomAD
NUAK1	O60285	p.Asn201Asp	COSM467715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072822T>C	NCI-TCGA Cosmic
NUAK1	O60285	p.Asn201Ser	rs1388269375	missense variant	-	NC_000012.12:g.106072821T>C	TOPMed,gnomAD
NUAK1	O60285	p.Leu202Arg	rs1295696054	missense variant	-	NC_000012.12:g.106072818A>C	gnomAD
NUAK1	O60285	p.Gln204Glu	rs368073167	missense variant	-	NC_000012.12:g.106072813G>C	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Lys205Thr	rs545166073	missense variant	-	NC_000012.12:g.106072809T>G	1000Genomes
NUAK1	O60285	p.Asp206Gly	rs746190784	missense variant	-	NC_000012.12:g.106072806T>C	ExAC
NUAK1	O60285	p.Lys207Arg	COSM934348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072803T>C	NCI-TCGA Cosmic
NUAK1	O60285	p.Lys207Thr	COSM934350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072803T>G	NCI-TCGA Cosmic
NUAK1	O60285	p.Phe208Cys	COSM430226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072800A>C	NCI-TCGA Cosmic
NUAK1	O60285	p.Gln210Lys	rs753998943	missense variant	-	NC_000012.12:g.106072795G>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gln210Glu	rs753998943	missense variant	-	NC_000012.12:g.106072795G>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Thr211Arg	rs1394535554	missense variant	-	NC_000012.12:g.106072791G>C	gnomAD
NUAK1	O60285	p.Thr211Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106072791G>A	NCI-TCGA
NUAK1	O60285	p.Cys213ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.106072786A>-	NCI-TCGA
NUAK1	O60285	p.Pro216Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106072777G>A	NCI-TCGA
NUAK1	O60285	p.Ala219Val	rs1458857778	missense variant	-	NC_000012.12:g.106072767G>A	TOPMed
NUAK1	O60285	p.Pro221Ser	COSM269747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106072762G>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Ile223Val	rs752774711	missense variant	-	NC_000012.12:g.106072756T>C	ExAC,gnomAD
NUAK1	O60285	p.Asn225Ser	rs1488532321	missense variant	-	NC_000012.12:g.106072749T>C	TOPMed
NUAK1	O60285	p.Arg227Thr	rs1182176128	missense variant	-	NC_000012.12:g.106072743C>G	gnomAD
NUAK1	O60285	p.Arg230Gln	rs764908737	missense variant	-	NC_000012.12:g.106072734C>T	ExAC,gnomAD
NUAK1	O60285	p.Trp237Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106070896C>A	NCI-TCGA
NUAK1	O60285	p.Leu239Met	rs777260764	missense variant	-	NC_000012.12:g.106070891G>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Val241Ala	COSM1358411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106070884A>G	NCI-TCGA Cosmic
NUAK1	O60285	p.Val241GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.106070886_106070887insGCCCT	NCI-TCGA
NUAK1	O60285	p.Leu246Val	COSM3810860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106070870G>C	NCI-TCGA Cosmic
NUAK1	O60285	p.Val247Ile	rs759171465	missense variant	-	NC_000012.12:g.106070867C>T	ExAC,gnomAD
NUAK1	O60285	p.Gly249Glu	rs1344362979	missense variant	-	NC_000012.12:g.106070860C>T	TOPMed
NUAK1	O60285	p.Met251Ile	rs1375549777	missense variant	-	NC_000012.12:g.106070853C>A	gnomAD
NUAK1	O60285	p.Pro252Ser	rs1177821671	missense variant	-	NC_000012.12:g.106070852G>A	gnomAD
NUAK1	O60285	p.Asp254Asn	rs749572189	missense variant	-	NC_000012.12:g.106070846C>T	ExAC,gnomAD
NUAK1	O60285	p.Gly255Ser	rs773648313	missense variant	-	NC_000012.12:g.106070843C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Phe256Leu	rs55667101	missense variant	-	NC_000012.12:g.106070838G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Phe256Cys	rs1440281975	missense variant	-	NC_000012.12:g.106070839A>C	TOPMed
NUAK1	O60285	p.Asp257Ala	COSM934344	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106070836T>G	NCI-TCGA Cosmic
NUAK1	O60285	p.Asp257Asn	rs748336286	missense variant	-	NC_000012.12:g.106070837C>T	ExAC,gnomAD
NUAK1	O60285	p.Asp257Tyr	rs748336286	missense variant	-	NC_000012.12:g.106070837C>A	ExAC,gnomAD
NUAK1	O60285	p.Asp257Gly	rs981002959	missense variant	-	NC_000012.12:g.106070836T>C	TOPMed
NUAK1	O60285	p.His258Asn	rs141538558	missense variant	-	NC_000012.12:g.106070834G>T	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Lys259Glu	rs747119666	missense variant	-	NC_000012.12:g.106070831T>C	ExAC,gnomAD
NUAK1	O60285	p.Asn260Lys	rs376406542	missense variant	-	NC_000012.12:g.106070826G>T	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Leu261Phe	rs1315538458	missense variant	-	NC_000012.12:g.106070825G>A	TOPMed
NUAK1	O60285	p.Arg263Trp	rs757243977	missense variant	-	NC_000012.12:g.106070819G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg263Gln	rs753772566	missense variant	-	NC_000012.12:g.106070818C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser266Asn	COSM4038246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106070809C>T	NCI-TCGA Cosmic
NUAK1	O60285	p.Ser266Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106070808G>T	NCI-TCGA
NUAK1	O60285	p.Gly268Ter	rs756042950	stop gained	-	NC_000012.12:g.106070804C>A	ExAC,gnomAD
NUAK1	O60285	p.Gly268Val	rs752380797	missense variant	-	NC_000012.12:g.106070803C>A	ExAC,gnomAD
NUAK1	O60285	p.Arg271Gln	rs759046362	missense variant	-	NC_000012.12:g.106070794C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg271Trp	rs370122763	missense variant	-	NC_000012.12:g.106070795G>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Thr274Ala	rs1210218636	missense variant	-	NC_000012.12:g.106070786T>C	gnomAD
NUAK1	O60285	p.Thr274Ile	rs1271998730	missense variant	-	NC_000012.12:g.106070785G>A	gnomAD
NUAK1	O60285	p.Gln275Pro	rs766746646	missense variant	-	NC_000012.12:g.106070782T>G	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asp278Tyr	rs1338264556	missense variant	-	NC_000012.12:g.106070774C>A	gnomAD
NUAK1	O60285	p.Arg280Gln	rs960012986	missense variant	-	NC_000012.12:g.106067949C>T	TOPMed,gnomAD
NUAK1	O60285	p.Arg280Ter	rs1324051870	stop gained	-	NC_000012.12:g.106067950G>A	TOPMed
NUAK1	O60285	p.Gly281Val	rs765739015	missense variant	-	NC_000012.12:g.106067946C>A	ExAC,gnomAD
NUAK1	O60285	p.Gly281Glu	rs765739015	missense variant	-	NC_000012.12:g.106067946C>T	ExAC,gnomAD
NUAK1	O60285	p.Arg284Gln	rs1273871319	missense variant	-	NC_000012.12:g.106067937C>T	TOPMed,gnomAD
NUAK1	O60285	p.Arg284Trp	rs1457413285	missense variant	-	NC_000012.12:g.106067938G>A	TOPMed,gnomAD
NUAK1	O60285	p.Met286Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067932T>C	NCI-TCGA
NUAK1	O60285	p.Leu287Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067929G>T	NCI-TCGA
NUAK1	O60285	p.Met288Arg	rs1336771458	missense variant	-	NC_000012.12:g.106067925A>C	gnomAD
NUAK1	O60285	p.Asp292Asn	rs546010292	missense variant	-	NC_000012.12:g.106067914C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asp292Gly	rs775646302	missense variant	-	NC_000012.12:g.106067913T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg293Cys	rs772183684	missense variant	-	NC_000012.12:g.106067911G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg293His	rs201088258	missense variant	-	NC_000012.12:g.106067910C>T	TOPMed,gnomAD
NUAK1	O60285	p.Arg294Trp	rs375824826	missense variant	-	NC_000012.12:g.106067908G>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ile297Val	rs769881661	missense variant	-	NC_000012.12:g.106067899T>C	ExAC,gnomAD
NUAK1	O60285	p.Ile297Thr	rs747899336	missense variant	-	NC_000012.12:g.106067898A>G	ExAC,gnomAD
NUAK1	O60285	p.Ile300Val	rs1164558207	missense variant	-	NC_000012.12:g.106067890T>C	gnomAD
NUAK1	O60285	p.Asn302His	rs781111029	missense variant	-	NC_000012.12:g.106067884T>G	ExAC,gnomAD
NUAK1	O60285	p.Asn302Lys	rs751220510	missense variant	-	NC_000012.12:g.106067882G>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asn302Ser	rs754767637	missense variant	-	NC_000012.12:g.106067883T>C	ExAC,gnomAD
NUAK1	O60285	p.His303Tyr	rs1187889590	missense variant	-	NC_000012.12:g.106067881G>A	TOPMed,gnomAD
NUAK1	O60285	p.His303Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067881G>T	NCI-TCGA
NUAK1	O60285	p.Trp305Ter	COSM3383993	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106067874C>T	NCI-TCGA Cosmic
NUAK1	O60285	p.Asn307Ser	rs1439310511	missense variant	-	NC_000012.12:g.106067868T>C	TOPMed,gnomAD
NUAK1	O60285	p.Asn307Lys	rs55850452	missense variant	-	NC_000012.12:g.106067867G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gly309Asp	rs757859531	missense variant	-	NC_000012.12:g.106067862C>T	ExAC,gnomAD
NUAK1	O60285	p.Tyr310Cys	rs749967228	missense variant	-	NC_000012.12:g.106067859T>C	ExAC,gnomAD
NUAK1	O60285	p.Ser312Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067853C>T	NCI-TCGA
NUAK1	O60285	p.Val314Met	rs1458958342	missense variant	-	NC_000012.12:g.106067848C>T	TOPMed
NUAK1	O60285	p.Asp316Val	rs754386273	missense variant	-	NC_000012.12:g.106067841T>A	ExAC,gnomAD
NUAK1	O60285	p.Cys317Ser	COSM430224	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067839A>T	NCI-TCGA Cosmic
NUAK1	O60285	p.Asp318Val	rs879080527	missense variant	-	NC_000012.12:g.106067835T>A	TOPMed
NUAK1	O60285	p.Ala319Val	rs764516584	missense variant	-	NC_000012.12:g.106067832G>A	ExAC,gnomAD
NUAK1	O60285	p.Leu320Phe	rs761006444	missense variant	-	NC_000012.12:g.106067830G>A	ExAC
NUAK1	O60285	p.Asp322Val	rs905955696	missense variant	-	NC_000012.12:g.106067823T>A	gnomAD
NUAK1	O60285	p.Ser323Thr	rs775727576	missense variant	-	NC_000012.12:g.106067821A>T	ExAC,gnomAD
NUAK1	O60285	p.Ser325Tyr	rs772185238	missense variant	-	NC_000012.12:g.106067814G>T	ExAC,gnomAD
NUAK1	O60285	p.Pro326Gln	rs1364841523	missense variant	-	NC_000012.12:g.106067811G>T	TOPMed,gnomAD
NUAK1	O60285	p.Pro326Leu	rs1364841523	missense variant	-	NC_000012.12:g.106067811G>A	TOPMed,gnomAD
NUAK1	O60285	p.Pro326Ser	rs890806490	missense variant	-	NC_000012.12:g.106067812G>A	TOPMed
NUAK1	O60285	p.Leu327Phe	rs759616422	missense variant	-	NC_000012.12:g.106067809G>A	ExAC,gnomAD
NUAK1	O60285	p.Ala329Thr	rs1347388206	missense variant	-	NC_000012.12:g.106067803C>T	TOPMed,gnomAD
NUAK1	O60285	p.Arg330Trp	rs771180903	missense variant	-	NC_000012.12:g.106067800G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg330Gln	rs748065457	missense variant	-	NC_000012.12:g.106067799C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ile331Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067797T>A	NCI-TCGA
NUAK1	O60285	p.Ile332Leu	rs768485077	missense variant	-	NC_000012.12:g.106067794T>G	ExAC,gnomAD
NUAK1	O60285	p.Arg337Cys	rs1431553744	missense variant	-	NC_000012.12:g.106067779G>A	gnomAD
NUAK1	O60285	p.Arg337His	rs1266733924	missense variant	-	NC_000012.12:g.106067778C>T	gnomAD
NUAK1	O60285	p.Ser338Cys	rs746793160	missense variant	-	NC_000012.12:g.106067775G>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gly340Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067769C>A	NCI-TCGA
NUAK1	O60285	p.Leu341Gln	rs1232609591	missense variant	-	NC_000012.12:g.106067766A>T	TOPMed,gnomAD
NUAK1	O60285	p.Gln342His	rs1214115854	missense variant	-	NC_000012.12:g.106067762C>G	gnomAD
NUAK1	O60285	p.Asp344Gly	rs750127082	missense variant	-	NC_000012.12:g.106067757T>C	ExAC,gnomAD
NUAK1	O60285	p.Thr345Ile	rs1234929060	missense variant	-	NC_000012.12:g.106067754G>A	TOPMed,gnomAD
NUAK1	O60285	p.Glu346Lys	rs374885903	missense variant	-	NC_000012.12:g.106067752C>T	ESP,ExAC,gnomAD
NUAK1	O60285	p.Ala347Val	rs1215675081	missense variant	-	NC_000012.12:g.106067748G>A	gnomAD
NUAK1	O60285	p.Lys350Asn	COSM6071114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067738C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Ala353Ser	rs761030245	missense variant	-	NC_000012.12:g.106067731C>A	ExAC,gnomAD
NUAK1	O60285	p.Ala353Thr	rs761030245	missense variant	-	NC_000012.12:g.106067731C>T	ExAC,gnomAD
NUAK1	O60285	p.Lys354Glu	rs1376413477	missense variant	-	NC_000012.12:g.106067728T>C	gnomAD
NUAK1	O60285	p.Pro355Ser	rs1442683209	missense variant	-	NC_000012.12:g.106067725G>A	TOPMed
NUAK1	O60285	p.Thr356Met	rs753030924	missense variant	-	NC_000012.12:g.106067721G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Val360Ala	rs1428816207	missense variant	-	NC_000012.12:g.106067709A>G	TOPMed
NUAK1	O60285	p.Val360Ile	rs1429069908	missense variant	-	NC_000012.12:g.106067710C>T	gnomAD
NUAK1	O60285	p.Met361Ile	rs774753144	missense variant	-	NC_000012.12:g.106067705C>T	ExAC,gnomAD
NUAK1	O60285	p.Leu362Ile	rs574902249	missense variant	-	NC_000012.12:g.106067704G>T	1000Genomes,TOPMed
NUAK1	O60285	p.Glu363Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067701C>G	NCI-TCGA
NUAK1	O60285	p.Arg364Gln	rs145399889	missense variant	-	NC_000012.12:g.106067697C>T	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg364Trp	rs147705634	missense variant	-	NC_000012.12:g.106067698G>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg366Trp	rs941006183	missense variant	-	NC_000012.12:g.106067692G>A	TOPMed,gnomAD
NUAK1	O60285	p.Arg366Gln	rs768508553	missense variant	-	NC_000012.12:g.106067691C>T	ExAC,gnomAD
NUAK1	O60285	p.Ser367Leu	rs139881229	missense variant	-	NC_000012.12:g.106067688G>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Glu374Gln	COSM1298861	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067668C>G	NCI-TCGA Cosmic
NUAK1	O60285	p.Glu374Gly	rs1218539974	missense variant	-	NC_000012.12:g.106067667T>C	gnomAD
NUAK1	O60285	p.Asn375Thr	rs1356569162	missense variant	-	NC_000012.12:g.106067664T>G	gnomAD
NUAK1	O60285	p.Gln379His	rs748804361	missense variant	-	NC_000012.12:g.106067651C>G	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gln379Leu	rs756703559	missense variant	-	NC_000012.12:g.106067652T>A	ExAC
NUAK1	O60285	p.Ser380Ala	COSM4038240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067650A>C	NCI-TCGA Cosmic
NUAK1	O60285	p.Ser380Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067649G>A	NCI-TCGA
NUAK1	O60285	p.Gly381Val	rs1484026982	missense variant	-	NC_000012.12:g.106067646C>A	TOPMed
NUAK1	O60285	p.Ala384Ser	COSM4038238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067638C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Ala384Pro	rs778299911	missense variant	-	NC_000012.12:g.106067638C>G	ExAC,gnomAD
NUAK1	O60285	p.Pro386Leu	rs1200591559	missense variant	-	NC_000012.12:g.106067631G>A	TOPMed
NUAK1	O60285	p.Pro386His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067631G>T	NCI-TCGA
NUAK1	O60285	p.Pro389Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067623G>T	NCI-TCGA
NUAK1	O60285	p.Ser390Pro	rs1463625642	missense variant	-	NC_000012.12:g.106067620A>G	TOPMed,gnomAD
NUAK1	O60285	p.Lys391Gln	COSM4038236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067617T>G	NCI-TCGA Cosmic
NUAK1	O60285	p.Lys391Asn	COSM934340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067615C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Lys391Met	rs753293421	missense variant	-	NC_000012.12:g.106067616T>A	ExAC,gnomAD
NUAK1	O60285	p.Leu392Val	rs148697405	missense variant	-	NC_000012.12:g.106067614A>C	ESP,TOPMed
NUAK1	O60285	p.Lys395Glu	rs1477449937	missense variant	-	NC_000012.12:g.106067605T>C	gnomAD
NUAK1	O60285	p.Arg396Ser	rs1418317423	missense variant	-	NC_000012.12:g.106067600C>A	gnomAD
NUAK1	O60285	p.Arg396Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067601C>A	NCI-TCGA
NUAK1	O60285	p.Pro397Arg	COSM3455463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067598G>C	NCI-TCGA Cosmic
NUAK1	O60285	p.Pro397Ser	rs767739254	missense variant	-	NC_000012.12:g.106067599G>A	ExAC,gnomAD
NUAK1	O60285	p.Lys403Glu	rs751816829	missense variant	-	NC_000012.12:g.106067581T>C	ExAC,gnomAD
NUAK1	O60285	p.Arg404Gln	rs142935663	missense variant	-	NC_000012.12:g.106067577C>T	ExAC,TOPMed
NUAK1	O60285	p.Ser405Asn	rs1379651915	missense variant	-	NC_000012.12:g.106067574C>T	TOPMed
NUAK1	O60285	p.Ser405Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067573G>C	NCI-TCGA
NUAK1	O60285	p.Asn406Asp	rs1458750708	missense variant	-	NC_000012.12:g.106067572T>C	TOPMed,gnomAD
NUAK1	O60285	p.Asn406Lys	rs763058664	missense variant	-	NC_000012.12:g.106067570G>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser407Arg	rs368677538	missense variant	-	NC_000012.12:g.106067567G>C	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Glu408Lys	rs988961079	missense variant	-	NC_000012.12:g.106067566C>T	TOPMed,gnomAD
NUAK1	O60285	p.Glu408Ter	rs988961079	stop gained	-	NC_000012.12:g.106067566C>A	TOPMed,gnomAD
NUAK1	O60285	p.Arg410His	rs771843801	missense variant	-	NC_000012.12:g.106067559C>T	ExAC,TOPMed
NUAK1	O60285	p.Arg410Cys	rs370958059	missense variant	-	NC_000012.12:g.106067560G>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser411Pro	rs538221704	missense variant	-	NC_000012.12:g.106067557A>G	1000Genomes,ExAC,gnomAD
NUAK1	O60285	p.His412Leu	rs1303842096	missense variant	-	NC_000012.12:g.106067553T>A	TOPMed
NUAK1	O60285	p.Ile417Val	rs202168878	missense variant	-	NC_000012.12:g.106067539T>C	1000Genomes,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ile417Leu	rs202168878	missense variant	-	NC_000012.12:g.106067539T>G	1000Genomes,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gly419Asp	rs55774704	missense variant	-	NC_000012.12:g.106067532C>T	-
NUAK1	O60285	p.Gly419Asp	rs55774704	missense variant	-	NC_000012.12:g.106067532C>T	UniProt,dbSNP
NUAK1	O60285	p.Gly419Asp	VAR_040963	missense variant	-	NC_000012.12:g.106067532C>T	UniProt
NUAK1	O60285	p.Val420Ile	rs777121945	missense variant	-	NC_000012.12:g.106067530C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Val420Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067529A>G	NCI-TCGA
NUAK1	O60285	p.Gly422Val	rs144124030	missense variant	-	NC_000012.12:g.106067523C>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ala424Asp	rs748596334	missense variant	-	NC_000012.12:g.106067517G>T	ExAC,gnomAD
NUAK1	O60285	p.Pro426Ser	rs760814933	missense variant	-	NC_000012.12:g.106067512G>A	ExAC,gnomAD
NUAK1	O60285	p.Pro426Thr	rs760814933	missense variant	-	NC_000012.12:g.106067512G>T	ExAC,gnomAD
NUAK1	O60285	p.Pro426Leu	rs1395068391	missense variant	-	NC_000012.12:g.106067511G>A	TOPMed,gnomAD
NUAK1	O60285	p.Pro426Ala	rs760814933	missense variant	-	NC_000012.12:g.106067512G>C	ExAC,gnomAD
NUAK1	O60285	p.Ser427Phe	rs1456237104	missense variant	-	NC_000012.12:g.106067508G>A	gnomAD
NUAK1	O60285	p.Lys430Asn	rs559454484	missense variant	-	NC_000012.12:g.106067498C>A	gnomAD
NUAK1	O60285	p.Glu432Gln	rs751977714	missense variant	-	NC_000012.12:g.106067494C>G	ExAC
NUAK1	O60285	p.Gln433Arg	rs780375162	missense variant	-	NC_000012.12:g.106067490T>C	ExAC,gnomAD
NUAK1	O60285	p.Asp434Gly	rs750699063	missense variant	-	NC_000012.12:g.106067487T>C	ExAC,gnomAD
NUAK1	O60285	p.Asp434Glu	rs765230050	missense variant	-	NC_000012.12:g.106067486G>C	ExAC,gnomAD
NUAK1	O60285	p.Leu435Phe	rs762013451	missense variant	-	NC_000012.12:g.106067483C>G	ExAC
NUAK1	O60285	p.Arg437Gly	rs752522185	missense variant	-	NC_000012.12:g.106067479T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg437Ser	rs898106278	missense variant	-	NC_000012.12:g.106067477C>G	TOPMed,gnomAD
NUAK1	O60285	p.Arg437Met	rs994230233	missense variant	-	NC_000012.12:g.106067478C>A	TOPMed
NUAK1	O60285	p.Gly439Val	rs759290535	missense variant	-	NC_000012.12:g.106067472C>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gly439Asp	rs759290535	missense variant	-	NC_000012.12:g.106067472C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Val440Met	rs1022920336	missense variant	-	NC_000012.12:g.106067470C>T	TOPMed,gnomAD
NUAK1	O60285	p.Val440Gly	rs1351714295	missense variant	-	NC_000012.12:g.106067469A>C	gnomAD
NUAK1	O60285	p.Leu442Phe	rs770758232	missense variant	-	NC_000012.12:g.106067464G>A	ExAC,gnomAD
NUAK1	O60285	p.Pro443Ser	rs1458873105	missense variant	-	NC_000012.12:g.106067461G>A	gnomAD
NUAK1	O60285	p.Pro443Leu	rs749654957	missense variant	-	NC_000012.12:g.106067460G>A	TOPMed,gnomAD
NUAK1	O60285	p.Ser445Leu	rs1038340199	missense variant	-	NC_000012.12:g.106067454G>A	TOPMed,gnomAD
NUAK1	O60285	p.Glu447Gly	rs1452278544	missense variant	-	NC_000012.12:g.106067448T>C	TOPMed
NUAK1	O60285	p.Val450Glu	rs1384994807	missense variant	-	NC_000012.12:g.106067439A>T	gnomAD
NUAK1	O60285	p.Pro451Ser	rs769172384	missense variant	-	NC_000012.12:g.106067437G>A	ExAC,gnomAD
NUAK1	O60285	p.Pro451Leu	rs747705556	missense variant	-	NC_000012.12:g.106067436G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gly452Glu	rs1157642732	missense variant	-	NC_000012.12:g.106067433C>T	gnomAD
NUAK1	O60285	p.Lys453Gln	rs769318013	missense variant	-	NC_000012.12:g.106067431T>G	ExAC,gnomAD
NUAK1	O60285	p.Lys453Arg	rs747568443	missense variant	-	NC_000012.12:g.106067430T>C	ExAC,gnomAD
NUAK1	O60285	p.Leu454Pro	rs1197452411	missense variant	-	NC_000012.12:g.106067427A>G	gnomAD
NUAK1	O60285	p.Pro456Arg	rs758901008	missense variant	-	NC_000012.12:g.106067421G>C	ExAC,gnomAD
NUAK1	O60285	p.Pro456Ser	rs1375542497	missense variant	-	NC_000012.12:g.106067422G>A	TOPMed,gnomAD
NUAK1	O60285	p.Gln458Lys	rs373657293	missense variant	-	NC_000012.12:g.106067416G>T	ESP,TOPMed,gnomAD
NUAK1	O60285	p.Gln458Glu	rs373657293	missense variant	-	NC_000012.12:g.106067416G>C	ESP,TOPMed,gnomAD
NUAK1	O60285	p.Ser459Leu	rs1038316952	missense variant	-	NC_000012.12:g.106067412G>A	gnomAD
NUAK1	O60285	p.Ser459Pro	rs1487450986	missense variant	-	NC_000012.12:g.106067413A>G	gnomAD
NUAK1	O60285	p.Thr461Met	rs757219955	missense variant	-	NC_000012.12:g.106067406G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Thr461Ser	rs779212474	missense variant	-	NC_000012.12:g.106067407T>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Met462Leu	rs1325633815	missense variant	-	NC_000012.12:g.106067404T>A	gnomAD
NUAK1	O60285	p.Leu468Phe	COSM3810856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067384C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Lys469Thr	rs759443668	missense variant	-	NC_000012.12:g.106067382T>G	ExAC,gnomAD
NUAK1	O60285	p.Lys470Thr	COSM1358403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067379T>G	NCI-TCGA Cosmic
NUAK1	O60285	p.Thr471Ala	rs766156436	missense variant	-	NC_000012.12:g.106067377T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg474Gly	rs1297259058	missense variant	-	NC_000012.12:g.106067368T>C	gnomAD
NUAK1	O60285	p.Glu475Ter	COSM934334	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106067365C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Ser476Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067361G>A	NCI-TCGA
NUAK1	O60285	p.Ser480Phe	rs967772508	missense variant	-	NC_000012.12:g.106067349G>A	TOPMed
NUAK1	O60285	p.Arg484Cys	rs772681107	missense variant	-	NC_000012.12:g.106067338G>A	ExAC,gnomAD
NUAK1	O60285	p.Arg484His	rs111758972	missense variant	-	NC_000012.12:g.106067337C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser485Gly	rs1170229574	missense variant	-	NC_000012.12:g.106067335T>C	gnomAD
NUAK1	O60285	p.Ser488Leu	rs200489873	missense variant	-	NC_000012.12:g.106067325G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser488Trp	rs200489873	missense variant	-	NC_000012.12:g.106067325G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Glu489Ter	COSM4038232	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106067323C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Asp492Asn	rs979077065	missense variant	-	NC_000012.12:g.106067314C>T	TOPMed
NUAK1	O60285	p.Asp492Tyr	rs979077065	missense variant	-	NC_000012.12:g.106067314C>A	TOPMed
NUAK1	O60285	p.Ser493Cys	rs747515410	missense variant	-	NC_000012.12:g.106067311T>A	ExAC,gnomAD
NUAK1	O60285	p.Ser493Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067310C>A	NCI-TCGA
NUAK1	O60285	p.Asn494Ser	rs1417352690	missense variant	-	NC_000012.12:g.106067307T>C	TOPMed
NUAK1	O60285	p.Asn494Asp	rs780767441	missense variant	-	NC_000012.12:g.106067308T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Val496Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067301A>G	NCI-TCGA
NUAK1	O60285	p.Met497Ile	rs1278818503	missense variant	-	NC_000012.12:g.106067297C>T	gnomAD
NUAK1	O60285	p.Met497Lys	rs1340117815	missense variant	-	NC_000012.12:g.106067298A>T	gnomAD
NUAK1	O60285	p.Met497Leu	rs376346267	missense variant	-	NC_000012.12:g.106067299T>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gly498Asp	rs1220374576	missense variant	-	NC_000012.12:g.106067295C>T	TOPMed,gnomAD
NUAK1	O60285	p.Ser499Arg	rs201594672	missense variant	-	NC_000012.12:g.106067291G>C	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser499Arg	rs201594672	missense variant	-	NC_000012.12:g.106067291G>T	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser500Ile	rs1448313760	missense variant	-	NC_000012.12:g.106067289C>A	gnomAD
NUAK1	O60285	p.Pro502Leu	rs1279733898	missense variant	-	NC_000012.12:g.106067283G>A	TOPMed
NUAK1	O60285	p.Pro502His	rs1279733898	missense variant	-	NC_000012.12:g.106067283G>T	TOPMed
NUAK1	O60285	p.Pro502Ser	rs1331669032	missense variant	-	NC_000012.12:g.106067284G>A	gnomAD
NUAK1	O60285	p.Ser503ProPheSerTerUnkUnk	COSM5177095	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106067281A>-	NCI-TCGA Cosmic
NUAK1	O60285	p.Ser503Phe	rs777795435	missense variant	-	NC_000012.12:g.106067280G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro504Arg	rs756250055	missense variant	-	NC_000012.12:g.106067277G>C	ExAC,gnomAD
NUAK1	O60285	p.Pro504Ala	rs1173528526	missense variant	-	NC_000012.12:g.106067278G>C	gnomAD
NUAK1	O60285	p.Ser505Arg	rs1210386962	missense variant	-	NC_000012.12:g.106067275T>G	gnomAD
NUAK1	O60285	p.Ser505Ile	rs1473915287	missense variant	-	NC_000012.12:g.106067274C>A	gnomAD
NUAK1	O60285	p.Ser505Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067273G>C	NCI-TCGA
NUAK1	O60285	p.Pro507Leu	rs750262992	missense variant	-	NC_000012.12:g.106067268G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro507Arg	rs750262992	missense variant	-	NC_000012.12:g.106067268G>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro507ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.106067268G>-	NCI-TCGA
NUAK1	O60285	p.Asp508GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.106067267_106067268insG	NCI-TCGA
NUAK1	O60285	p.Arg511Gly	rs763685502	missense variant	-	NC_000012.12:g.106067257T>C	ExAC,gnomAD
NUAK1	O60285	p.Val512Leu	rs776076144	missense variant	-	NC_000012.12:g.106067254C>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Thr513Pro	rs772669640	missense variant	-	NC_000012.12:g.106067251T>G	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser514Cys	rs774760278	missense variant	-	NC_000012.12:g.106067247G>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser514Pro	rs76743942	missense variant	-	NC_000012.12:g.106067248A>G	ExAC,gnomAD
NUAK1	O60285	p.His515Pro	rs115159926	missense variant	-	NC_000012.12:g.106067244T>G	ExAC,gnomAD
NUAK1	O60285	p.His515Arg	rs115159926	missense variant	-	NC_000012.12:g.106067244T>C	ExAC,gnomAD
NUAK1	O60285	p.Ser518Phe	rs778025072	missense variant	-	NC_000012.12:g.106067235G>A	ExAC,gnomAD
NUAK1	O60285	p.Cys519Ser	rs1166066281	missense variant	-	NC_000012.12:g.106067232C>G	gnomAD
NUAK1	O60285	p.Arg520Trp	rs374659997	missense variant	-	NC_000012.12:g.106067230G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg520Gln	rs117517173	missense variant	-	NC_000012.12:g.106067229C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.His527Asn	COSM3986588	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067209G>T	NCI-TCGA Cosmic
NUAK1	O60285	p.His527Gln	rs750367833	missense variant	-	NC_000012.12:g.106067207G>C	ExAC,gnomAD
NUAK1	O60285	p.Ser528Arg	rs765077418	missense variant	-	NC_000012.12:g.106067204G>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser528Arg	rs765077418	missense variant	-	NC_000012.12:g.106067204G>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser529Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067201G>T	NCI-TCGA
NUAK1	O60285	p.Ala533Val	rs112197976	missense variant	-	NC_000012.12:g.106067190G>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ala533Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067191C>T	NCI-TCGA
NUAK1	O60285	p.Gly534Val	rs1222194861	missense variant	-	NC_000012.12:g.106067187C>A	gnomAD
NUAK1	O60285	p.Thr535Ala	rs760225538	missense variant	-	NC_000012.12:g.106067185T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Met536Thr	rs938846208	missense variant	-	NC_000012.12:g.106067181A>G	TOPMed
NUAK1	O60285	p.Asp537Glu	rs775166034	missense variant	-	NC_000012.12:g.106067177G>C	ExAC,gnomAD
NUAK1	O60285	p.Ala539Ser	COSM1358399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067173C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Ala539Pro	rs766989137	missense variant	-	NC_000012.12:g.106067173C>G	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Val541Ala	COSM934332	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067166A>G	NCI-TCGA Cosmic
NUAK1	O60285	p.Ser542Asn	rs946121044	missense variant	-	NC_000012.12:g.106067163C>T	TOPMed,gnomAD
NUAK1	O60285	p.Pro543Arg	rs3741883	missense variant	-	NC_000012.12:g.106067160G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro543His	rs3741883	missense variant	-	NC_000012.12:g.106067160G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro543Ser	rs1294686966	missense variant	-	NC_000012.12:g.106067161G>A	TOPMed,gnomAD
NUAK1	O60285	p.Met545Ile	COSM4038230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067153C>T	NCI-TCGA Cosmic
NUAK1	O60285	p.Met545Thr	rs773354501	missense variant	-	NC_000012.12:g.106067154A>G	ExAC,gnomAD
NUAK1	O60285	p.Pro546Ala	rs1164446129	missense variant	-	NC_000012.12:g.106067152G>C	gnomAD
NUAK1	O60285	p.Thr547Ile	rs1382357992	missense variant	-	NC_000012.12:g.106067148G>A	gnomAD
NUAK1	O60285	p.Thr547Ala	rs1420558174	missense variant	-	NC_000012.12:g.106067149T>C	gnomAD
NUAK1	O60285	p.Ser550Phe	COSM458280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067139G>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Leu551Pro	rs748176544	missense variant	-	NC_000012.12:g.106067136A>G	ExAC,gnomAD
NUAK1	O60285	p.Glu553Gly	rs1425947536	missense variant	-	NC_000012.12:g.106067130T>C	gnomAD
NUAK1	O60285	p.Pro554Ser	rs1191768372	missense variant	-	NC_000012.12:g.106067128G>A	gnomAD
NUAK1	O60285	p.Pro554Leu	rs781309800	missense variant	-	NC_000012.12:g.106067127G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gly555Ala	COSM3455457	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067124C>G	NCI-TCGA Cosmic
NUAK1	O60285	p.Gly555Asp	COSM3455459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067124C>T	NCI-TCGA Cosmic
NUAK1	O60285	p.Gly555Val	rs1244780590	missense variant	-	NC_000012.12:g.106067124C>A	gnomAD
NUAK1	O60285	p.Pro557Thr	rs1182316747	missense variant	-	NC_000012.12:g.106067119G>T	TOPMed
NUAK1	O60285	p.Ala558Asp	rs1488431371	missense variant	-	NC_000012.12:g.106067115G>T	gnomAD
NUAK1	O60285	p.Glu559Ter	rs757047758	stop gained	-	NC_000012.12:g.106067113C>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Glu559Gln	rs757047758	missense variant	-	NC_000012.12:g.106067113C>G	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Glu559Lys	rs757047758	missense variant	-	NC_000012.12:g.106067113C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg563Gln	rs755809583	missense variant	-	NC_000012.12:g.106067100C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg563Trp	rs777522611	missense variant	-	NC_000012.12:g.106067101G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Tyr565Cys	rs1293338483	missense variant	-	NC_000012.12:g.106067094T>C	gnomAD
NUAK1	O60285	p.Ser566Ile	COSM6071116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067091C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Ser566Arg	rs767053893	missense variant	-	NC_000012.12:g.106067090G>C	ExAC,gnomAD
NUAK1	O60285	p.Ser566Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067091C>T	NCI-TCGA
NUAK1	O60285	p.Arg567His	rs752050315	missense variant	-	NC_000012.12:g.106067088C>T	ExAC,gnomAD
NUAK1	O60285	p.Arg567Cys	rs759029750	missense variant	-	NC_000012.12:g.106067089G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro568Thr	rs1178254979	missense variant	-	NC_000012.12:g.106067086G>T	TOPMed,gnomAD
NUAK1	O60285	p.Val571Ala	rs770193954	missense variant	-	NC_000012.12:g.106067076A>G	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Val571Ile	rs773589766	missense variant	-	NC_000012.12:g.106067077C>T	ExAC,gnomAD
NUAK1	O60285	p.Ile572Thr	rs200755374	missense variant	-	NC_000012.12:g.106067073A>G	TOPMed,gnomAD
NUAK1	O60285	p.Asp574Asn	rs186215853	missense variant	-	NC_000012.12:g.106067068C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asp574Tyr	rs186215853	missense variant	-	NC_000012.12:g.106067068C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser576Arg	COSM1358397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067060G>T	NCI-TCGA Cosmic
NUAK1	O60285	p.Val577Met	rs768722408	missense variant	-	NC_000012.12:g.106067059C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser580Arg	rs540753037	missense variant	-	NC_000012.12:g.106067048G>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asp581Asn	rs778868101	missense variant	-	NC_000012.12:g.106067047C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser582Tyr	rs1342855138	missense variant	-	NC_000012.12:g.106067043G>T	TOPMed,gnomAD
NUAK1	O60285	p.Phe583Ser	rs1468866803	missense variant	-	NC_000012.12:g.106067040A>G	TOPMed
NUAK1	O60285	p.Asp587Tyr	COSM6135492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106067029C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Arg592Cys	rs777676118	missense variant	-	NC_000012.12:g.106067014G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg592His	rs147065969	missense variant	-	NC_000012.12:g.106067013C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro593Arg	rs1347505753	missense variant	-	NC_000012.12:g.106067010G>C	TOPMed,gnomAD
NUAK1	O60285	p.Pro593Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106067011G>A	NCI-TCGA
NUAK1	O60285	p.Ala594Pro	rs1464645111	missense variant	-	NC_000012.12:g.106067008C>G	TOPMed,gnomAD
NUAK1	O60285	p.Ala594Val	rs1324493779	missense variant	-	NC_000012.12:g.106067007G>A	TOPMed
NUAK1	O60285	p.Arg595Cys	rs552751383	missense variant	-	NC_000012.12:g.106067005G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg595His	rs141618950	missense variant	-	NC_000012.12:g.106067004C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg595Leu	rs141618950	missense variant	-	NC_000012.12:g.106067004C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg597Cys	rs200179138	missense variant	-	NC_000012.12:g.106066999G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg597Pro	rs200668694	missense variant	-	NC_000012.12:g.106066998C>G	1000Genomes,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg597His	rs200668694	missense variant	-	NC_000012.12:g.106066998C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg599His	rs762178790	missense variant	-	NC_000012.12:g.106066992C>T	ExAC,gnomAD
NUAK1	O60285	p.Arg599Cys	rs147896976	missense variant	-	NC_000012.12:g.106066993G>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ser600Asn	rs1199831417	missense variant	-	NC_000012.12:g.106066989C>T	gnomAD
NUAK1	O60285	p.Ser600Gly	rs776844714	missense variant	-	NC_000012.12:g.106066990T>C	ExAC,gnomAD
NUAK1	O60285	p.Val602Ile	rs201685343	missense variant	-	NC_000012.12:g.106066984C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Val602Ala	rs1227100746	missense variant	-	NC_000012.12:g.106066983A>G	gnomAD
NUAK1	O60285	p.Asn606Asp	rs553121163	missense variant	-	NC_000012.12:g.106066972T>C	1000Genomes,ExAC
NUAK1	O60285	p.Leu608Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106066966G>T	NCI-TCGA
NUAK1	O60285	p.Leu608Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106066966G>A	NCI-TCGA
NUAK1	O60285	p.Ile610Val	rs769658123	missense variant	-	NC_000012.12:g.106066960T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gln611Ter	COSM368561	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.106066957G>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Gln611Arg	rs1402315195	missense variant	-	NC_000012.12:g.106066956T>C	gnomAD
NUAK1	O60285	p.Asp612Tyr	COSM691463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106066954C>A	NCI-TCGA Cosmic
NUAK1	O60285	p.Glu614Gly	rs536423988	missense variant	-	NC_000012.12:g.106066947T>C	1000Genomes
NUAK1	O60285	p.Gly615Arg	rs747902749	missense variant	-	NC_000012.12:g.106066945C>T	ExAC,TOPMed
NUAK1	O60285	p.Gly615Val	rs1168408287	missense variant	-	NC_000012.12:g.106066944C>A	gnomAD
NUAK1	O60285	p.Leu616Pro	rs371574217	missense variant	-	NC_000012.12:g.106066941A>G	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gln617Arg	rs754610277	missense variant	-	NC_000012.12:g.106066938T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asn618Lys	rs201772373	missense variant	-	NC_000012.12:g.106066934G>T	1000Genomes,ESP,ExAC,gnomAD
NUAK1	O60285	p.Arg619Gly	rs372340813	missense variant	-	NC_000012.12:g.106066933G>C	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg619Gln	rs757960457	missense variant	-	NC_000012.12:g.106066932C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg619Trp	rs372340813	missense variant	-	NC_000012.12:g.106066933G>A	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro620Leu	rs1336452571	missense variant	-	NC_000012.12:g.106066929G>A	TOPMed
NUAK1	O60285	p.Arg621Trp	rs757600015	missense variant	-	NC_000012.12:g.106066927G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg621Gln	rs374349573	missense variant	-	NC_000012.12:g.106066926C>T	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Pro622His	rs1223760914	missense variant	-	NC_000012.12:g.106066923G>T	TOPMed
NUAK1	O60285	p.Leu625Pro	rs760774600	missense variant	-	NC_000012.12:g.106066914A>G	ExAC,TOPMed
NUAK1	O60285	p.Lys626Met	rs1437952591	missense variant	-	NC_000012.12:g.106066911T>A	TOPMed
NUAK1	O60285	p.Arg627Trp	rs775916862	missense variant	-	NC_000012.12:g.106066909G>A	ExAC,gnomAD
NUAK1	O60285	p.Arg627Gln	rs767695462	missense variant	-	NC_000012.12:g.106066908C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg629Gln	rs142652201	missense variant	-	NC_000012.12:g.106066902C>T	ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg629Trp	rs151011578	missense variant	-	NC_000012.12:g.106066903G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asn630Lys	rs568713265	missense variant	-	NC_000012.12:g.106066898G>T	1000Genomes,ExAC,gnomAD
NUAK1	O60285	p.Arg631Gln	rs776270199	missense variant	-	NC_000012.12:g.106066896C>T	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Arg631Trp	rs552453023	missense variant	-	NC_000012.12:g.106066897G>A	1000Genomes,ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Ala633Gly	rs1384179436	missense variant	-	NC_000012.12:g.106066890G>C	gnomAD
NUAK1	O60285	p.Ser638Cys	rs1390956618	missense variant	-	NC_000012.12:g.106066875G>C	TOPMed
NUAK1	O60285	p.Ser638Ala	rs746637932	missense variant	-	NC_000012.12:g.106066876A>C	ExAC
NUAK1	O60285	p.Thr641Ala	rs779695417	missense variant	-	NC_000012.12:g.106066867T>C	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Asp642Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106066864C>T	NCI-TCGA
NUAK1	O60285	p.Met643Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106066859C>A	NCI-TCGA
NUAK1	O60285	p.Asp645Gly	rs1452631825	missense variant	-	NC_000012.12:g.106066854T>C	gnomAD
NUAK1	O60285	p.Asp645Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106066855C>T	NCI-TCGA
NUAK1	O60285	p.Thr647Ile	rs757835723	missense variant	-	NC_000012.12:g.106066848G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Gln648Ter	rs1314904874	stop gained	-	NC_000012.12:g.106066846G>A	TOPMed
NUAK1	O60285	p.Gln648His	rs1208388075	missense variant	-	NC_000012.12:g.106066844C>G	gnomAD
NUAK1	O60285	p.Gln648His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106066844C>A	NCI-TCGA
NUAK1	O60285	p.Tyr650Ter	rs779341973	stop gained	-	NC_000012.12:g.106066838G>C	ExAC,gnomAD
NUAK1	O60285	p.Tyr650Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.106066839T>C	NCI-TCGA
NUAK1	O60285	p.Gln652His	rs1242563447	missense variant	-	NC_000012.12:g.106066832T>A	gnomAD
NUAK1	O60285	p.Ala653Val	rs757681052	missense variant	-	NC_000012.12:g.106066830G>A	ExAC,TOPMed,gnomAD
NUAK1	O60285	p.Leu660Val	COSM691465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.106066810G>C	NCI-TCGA Cosmic
NUAK1	O60285	p.Asn661His	rs756555513	missense variant	-	NC_000012.12:g.106066807T>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Trp2Leu	rs1396144821	missense variant	-	NC_000003.12:g.193593382G>T	gnomAD
OPA1	O60313	p.Arg3Gln	rs975168746	missense variant	-	NC_000003.12:g.193593385G>A	TOPMed
OPA1	O60313	p.Arg5Cys	rs1430877916	missense variant	-	NC_000003.12:g.193593390C>T	gnomAD
OPA1	O60313	p.Ala8Ser	RCV000723425	missense variant	-	NC_000003.12:g.193593399G>T	ClinVar
OPA1	O60313	p.Ala8Ser	rs794726939	missense variant	-	NC_000003.12:g.193593399G>T	-
OPA1	O60313	p.Ala8Ser	RCV000173452	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193593399G>T	ClinVar
OPA1	O60313	p.Val9Met	rs1310378860	missense variant	-	NC_000003.12:g.193593402G>A	gnomAD
OPA1	O60313	p.Ala10Pro	rs1374210167	missense variant	-	NC_000003.12:g.193593405G>C	gnomAD
OPA1	O60313	p.Cys11Arg	rs763176048	missense variant	-	NC_000003.12:g.193593408T>C	ExAC,gnomAD
OPA1	O60313	p.Cys11Tyr	rs1341753623	missense variant	-	NC_000003.12:g.193593409G>A	gnomAD
OPA1	O60313	p.Val13Ile	rs373753869	missense variant	-	NC_000003.12:g.193614727G>A	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Cys14Tyr	rs767733553	missense variant	-	NC_000003.12:g.193614731G>A	ExAC,gnomAD
OPA1	O60313	p.Cys14Ser	rs767733553	missense variant	-	NC_000003.12:g.193614731G>C	ExAC,gnomAD
OPA1	O60313	p.Gln15Lys	rs75414918	missense variant	-	NC_000003.12:g.193614733C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gln15Lys	RCV000295836	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193614733C>A	ClinVar
OPA1	O60313	p.Ser16Phe	rs1230361416	missense variant	-	NC_000003.12:g.193614737C>T	gnomAD
OPA1	O60313	p.Leu17Ile	rs760770105	missense variant	-	NC_000003.12:g.193614739T>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu17Ile	RCV000523840	missense variant	-	NC_000003.12:g.193614739T>A	ClinVar
OPA1	O60313	p.His20Tyr	rs1321305109	missense variant	-	NC_000003.12:g.193614748C>T	gnomAD
OPA1	O60313	p.Ser22Cys	rs1267545673	missense variant	-	NC_000003.12:g.193614755C>G	gnomAD
OPA1	O60313	p.Gly23Val	rs1479866542	missense variant	-	NC_000003.12:g.193614758G>T	gnomAD
OPA1	O60313	p.Ile24Lys	rs555053360	missense variant	-	NC_000003.12:g.193614761T>A	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Ile24Val	rs201520438	missense variant	-	NC_000003.12:g.193614760A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile24Thr	rs555053360	missense variant	-	NC_000003.12:g.193614761T>C	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Ile24Val	RCV000332084	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193614760A>G	ClinVar
OPA1	O60313	p.Ile24Val	RCV000488273	missense variant	-	NC_000003.12:g.193614760A>G	ClinVar
OPA1	O60313	p.Gly26Glu	rs1473275837	missense variant	-	NC_000003.12:g.193614767G>A	gnomAD
OPA1	O60313	p.Pro29Ala	rs145565705	missense variant	-	NC_000003.12:g.193614775C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Pro29Ala	RCV000594159	missense variant	-	NC_000003.12:g.193614775C>G	ClinVar
OPA1	O60313	p.Leu30Pro	rs758056583	missense variant	-	NC_000003.12:g.193614779T>C	ExAC,gnomAD
OPA1	O60313	p.His34Tyr	rs746468712	missense variant	-	NC_000003.12:g.193614790C>T	ExAC,gnomAD
OPA1	O60313	p.Ser37Leu	rs149756039	missense variant	-	NC_000003.12:g.193614800C>T	ESP,TOPMed
OPA1	O60313	p.Arg38Gln	rs866025924	missense variant	-	NC_000003.12:g.193614803G>A	TOPMed
OPA1	O60313	p.Arg38_Ser43del	VAR_022923	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Ser39Gly	rs1282452294	missense variant	-	NC_000003.12:g.193614805A>G	TOPMed,gnomAD
OPA1	O60313	p.Ile40Met	rs754495559	missense variant	-	NC_000003.12:g.193614810T>G	ExAC,gnomAD
OPA1	O60313	p.His42Asn	rs145563233	missense variant	-	NC_000003.12:g.193614814C>A	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.His42Tyr	rs145563233	missense variant	-	NC_000003.12:g.193614814C>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ser43Pro	rs1315189266	missense variant	-	NC_000003.12:g.193614817T>C	gnomAD
OPA1	O60313	p.His44Arg	rs1340467055	missense variant	-	NC_000003.12:g.193614821A>G	gnomAD
OPA1	O60313	p.Gln51Arg	rs148462105	missense variant	-	NC_000003.12:g.193614842A>G	ESP,ExAC
OPA1	O60313	p.Arg52Gln	rs749115822	missense variant	-	NC_000003.12:g.193614845G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Pro53Arg	rs1209365988	missense variant	-	NC_000003.12:g.193614848C>G	gnomAD
OPA1	O60313	p.Gln54His	rs760710808	missense variant	-	NC_000003.12:g.193614852A>T	ExAC,gnomAD
OPA1	O60313	p.Gln54Arg	rs775741716	missense variant	-	NC_000003.12:g.193614851A>G	ExAC,gnomAD
OPA1	O60313	p.Thr57Ile	rs549213088	missense variant	-	NC_000003.12:g.193614860C>T	TOPMed
OPA1	O60313	p.Ser58Phe	rs1417008261	missense variant	-	NC_000003.12:g.193614863C>T	gnomAD
OPA1	O60313	p.Gln61Ter	rs1448611948	stop gained	-	NC_000003.12:g.193614871C>T	gnomAD
OPA1	O60313	p.Gln61Arg	RCV000605473	missense variant	-	NC_000003.12:g.193614872A>G	ClinVar
OPA1	O60313	p.Gln61Arg	rs558532319	missense variant	-	NC_000003.12:g.193614872A>G	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Phe62Val	rs973809690	missense variant	-	NC_000003.12:g.193614874T>G	TOPMed
OPA1	O60313	p.Ser63Thr	rs777179811	missense variant	-	NC_000003.12:g.193614877T>A	ExAC,gnomAD
OPA1	O60313	p.Ser64Phe	rs1333436619	missense variant	-	NC_000003.12:g.193614881C>T	gnomAD
OPA1	O60313	p.Pro69Ala	rs750775588	missense variant	-	NC_000003.12:g.193614895C>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Pro69Ala	RCV000200222	missense variant	-	NC_000003.12:g.193614895C>G	ClinVar
OPA1	O60313	p.Leu70Val	rs1363343192	missense variant	-	NC_000003.12:g.193614898T>G	gnomAD
OPA1	O60313	p.Arg71His	RCV000200676	missense variant	-	NC_000003.12:g.193614902G>A	ClinVar
OPA1	O60313	p.Arg71His	rs766106312	missense variant	-	NC_000003.12:g.193614902G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg71Cys	rs368488165	missense variant	-	NC_000003.12:g.193614901C>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Lys72Thr	rs532878175	missense variant	-	NC_000003.12:g.193614905A>C	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Leu73Met	rs947418738	missense variant	-	NC_000003.12:g.193614907C>A	TOPMed
OPA1	O60313	p.Lys74Asn	rs114157340	missense variant	-	NC_000003.12:g.193614912A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ser76Cys	rs1312237162	missense variant	-	NC_000003.12:g.193614917C>G	gnomAD
OPA1	O60313	p.Lys79Asn	rs752258799	missense variant	-	NC_000003.12:g.193614927A>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Tyr80Asp	rs1432310704	missense variant	-	NC_000003.12:g.193614928T>G	TOPMed
OPA1	O60313	p.Tyr80Cys	rs151103940	missense variant	-	NC_000003.12:g.193614929A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Tyr80Cys	rs151103940	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193614929A>G	UniProt,dbSNP
OPA1	O60313	p.Tyr80Cys	VAR_060826	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193614929A>G	UniProt
OPA1	O60313	p.Gly81Ser	rs1464030807	missense variant	-	NC_000003.12:g.193614931G>A	gnomAD
OPA1	O60313	p.Tyr82Cys	RCV000594887	missense variant	-	NC_000003.12:g.193614935A>G	ClinVar
OPA1	O60313	p.Tyr82Ter	rs201580797	stop gained	-	NC_000003.12:g.193614936C>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Tyr82Cys	rs749063844	missense variant	-	NC_000003.12:g.193614935A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gln83Lys	rs1171915378	missense variant	-	NC_000003.12:g.193614937C>A	gnomAD
OPA1	O60313	p.Pro84Leu	rs747285128	missense variant	-	NC_000003.12:g.193614941C>T	ExAC,gnomAD
OPA1	O60313	p.Arg85Gly	rs372435892	missense variant	-	NC_000003.12:g.193614943C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg85His	rs35630194	missense variant	-	NC_000003.12:g.193614944G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg85Ser	rs372435892	missense variant	-	NC_000003.12:g.193614943C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg85Cys	rs372435892	missense variant	-	NC_000003.12:g.193614943C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg85His	RCV000081761	missense variant	-	NC_000003.12:g.193614944G>A	ClinVar
OPA1	O60313	p.Arg85Cys	RCV000372840	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193614943C>T	ClinVar
OPA1	O60313	p.Arg86Gly	rs763378799	missense variant	-	NC_000003.12:g.193614946A>G	ExAC,gnomAD
OPA1	O60313	p.Arg86Ter	RCV000516573	frameshift	-	NC_000003.12:g.193614946del	ClinVar
OPA1	O60313	p.Phe88Leu	rs568567404	missense variant	-	NC_000003.12:g.193614952T>C	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ala91Thr	rs751986355	missense variant	-	NC_000003.12:g.193614961G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ala91Gly	rs1085307621	missense variant	-	NC_000003.12:g.193614962C>G	-
OPA1	O60313	p.Ala91Gly	RCV000490111	missense variant	-	NC_000003.12:g.193614962C>G	ClinVar
OPA1	O60313	p.Ala91Pro	rs751986355	missense variant	-	NC_000003.12:g.193614961G>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu93Ser	rs767232015	missense variant	-	NC_000003.12:g.193614968T>C	ExAC,gnomAD
OPA1	O60313	p.Ala94Val	rs752102991	missense variant	-	NC_000003.12:g.193614971C>T	ExAC,gnomAD
OPA1	O60313	p.Ala94Thr	rs1265633519	missense variant	-	NC_000003.12:g.193614970G>A	gnomAD
OPA1	O60313	p.Thr95Met	rs201214736	missense variant	-	NC_000003.12:g.193614974C>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Thr95Arg	rs201214736	missense variant	-	NC_000003.12:g.193614974C>G	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu97Val	rs369233231	missense variant	-	NC_000003.12:g.193614979C>G	ESP,TOPMed,gnomAD
OPA1	O60313	p.Leu98Ter	RCV000175871	frameshift	-	NC_000003.12:g.193614982_193614991del	ClinVar
OPA1	O60313	p.Arg101His	rs201856560	missense variant	-	NC_000003.12:g.193614992G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg101Ser	rs371943668	missense variant	-	NC_000003.12:g.193614991C>A	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg101Cys	rs371943668	missense variant	-	NC_000003.12:g.193614991C>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Tyr102Cys	rs530896300	missense variant	-	NC_000003.12:g.193614995A>G	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Tyr102Cys	rs530896300	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193614995A>G	UniProt,dbSNP
OPA1	O60313	p.Tyr102Cys	VAR_060828	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193614995A>G	UniProt
OPA1	O60313	p.Tyr102Asn	rs1478942935	missense variant	-	NC_000003.12:g.193614994T>A	gnomAD
OPA1	O60313	p.Tyr102Phe	rs530896300	missense variant	-	NC_000003.12:g.193614995A>T	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile104Val	rs1409838390	missense variant	-	NC_000003.12:g.193615000A>G	gnomAD
OPA1	O60313	p.Ile104Met	rs755117948	missense variant	-	NC_000003.12:g.193615002A>G	ExAC,gnomAD
OPA1	O60313	p.Gly106Arg	rs781501736	missense variant	-	NC_000003.12:g.193615006G>C	ExAC,gnomAD
OPA1	O60313	p.Ser107Leu	rs376643015	missense variant	-	NC_000003.12:g.193615010C>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ala108Thr	rs1323248886	missense variant	-	NC_000003.12:g.193615012G>A	gnomAD
OPA1	O60313	p.Val109Ala	rs77173739	missense variant	-	NC_000003.12:g.193615016T>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Val109Gly	rs77173739	missense variant	-	NC_000003.12:g.193615016T>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gly110Ala	rs771567298	missense variant	-	NC_000003.12:g.193615019G>C	ExAC,gnomAD
OPA1	O60313	p.Gly111Asp	rs1287078471	missense variant	-	NC_000003.12:g.193615022G>A	gnomAD
OPA1	O60313	p.Gly112Ser	rs1228523553	missense variant	-	NC_000003.12:g.193615024G>A	TOPMed,gnomAD
OPA1	O60313	p.Ala115Val	rs200983556	missense variant	-	NC_000003.12:g.193615034C>T	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ala115Val	RCV000503172	missense variant	-	NC_000003.12:g.193615034C>T	ClinVar
OPA1	O60313	p.Ala115Val	RCV000658983	missense variant	-	NC_000003.12:g.193615034C>T	ClinVar
OPA1	O60313	p.Ala115Val	RCV000678318	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193615034C>T	ClinVar
OPA1	O60313	p.Lys116Arg	rs1290260183	missense variant	-	NC_000003.12:g.193615037A>G	TOPMed,gnomAD
OPA1	O60313	p.Lys117Met	rs760095113	missense variant	-	NC_000003.12:g.193615040A>T	ExAC,gnomAD
OPA1	O60313	p.Met125Ile	rs1483320211	missense variant	-	NC_000003.12:g.193615697G>A	gnomAD
OPA1	O60313	p.Met125Thr	rs891133690	missense variant	-	NC_000003.12:g.193615696T>C	TOPMed
OPA1	O60313	p.Ile126Met	rs746184166	missense variant	-	NC_000003.12:g.193615700A>G	ExAC,gnomAD
OPA1	O60313	p.Pro127Leu	rs772551106	missense variant	-	NC_000003.12:g.193615702C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Pro127Thr	rs547958808	missense variant	-	NC_000003.12:g.193615701C>A	TOPMed
OPA1	O60313	p.Pro127Ser	rs547958808	missense variant	-	NC_000003.12:g.193615701C>T	TOPMed
OPA1	O60313	p.Ser130Thr	rs760267194	missense variant	-	NC_000003.12:g.193615711G>C	ExAC,gnomAD
OPA1	O60313	p.Trp134Ter	rs1478806927	stop gained	-	NC_000003.12:g.193615724G>A	gnomAD
OPA1	O60313	p.Ile135Val	rs1369310365	missense variant	-	NC_000003.12:g.193615725A>G	gnomAD
OPA1	O60313	p.Pro137Leu	rs1172029551	missense variant	-	NC_000003.12:g.193615732C>T	gnomAD
OPA1	O60313	p.Ile139Thr	rs373512033	missense variant	-	NC_000003.12:g.193615738T>C	ESP
OPA1	O60313	p.Val140Met	rs948720639	missense variant	-	NC_000003.12:g.193615740G>A	TOPMed
OPA1	O60313	p.Val140Leu	rs948720639	missense variant	-	NC_000003.12:g.193615740G>T	TOPMed
OPA1	O60313	p.Val140Gly	rs1167044333	missense variant	-	NC_000003.12:g.193615741T>G	gnomAD
OPA1	O60313	p.Asp144His	rs1179088732	missense variant	-	NC_000003.12:g.193615752G>C	TOPMed,gnomAD
OPA1	O60313	p.Asp144Asn	rs1179088732	missense variant	-	NC_000003.12:g.193615752G>A	TOPMed,gnomAD
OPA1	O60313	p.Tyr146Cys	rs765139537	missense variant	-	NC_000003.12:g.193615759A>G	ExAC,gnomAD
OPA1	O60313	p.Asp148Gly	rs1341844139	missense variant	-	NC_000003.12:g.193615765A>G	gnomAD
OPA1	O60313	p.Asp148Tyr	rs758124618	missense variant	-	NC_000003.12:g.193615764G>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asp148Asn	rs758124618	missense variant	-	NC_000003.12:g.193615764G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Lys151Arg	rs1329178588	missense variant	-	NC_000003.12:g.193617181A>G	TOPMed
OPA1	O60313	p.Arg153Lys	rs766257852	missense variant	-	NC_000003.12:g.193617187G>A	ExAC,gnomAD
OPA1	O60313	p.Arg153Gly	rs762882041	missense variant	-	NC_000003.12:g.193617186A>G	ExAC,gnomAD
OPA1	O60313	p.Ala155Gly	rs751318725	missense variant	-	NC_000003.12:g.193617193C>G	ExAC,gnomAD
OPA1	O60313	p.Ala155Val	rs751318725	missense variant	-	NC_000003.12:g.193617193C>T	ExAC,gnomAD
OPA1	O60313	p.Ser158Asn	rs7624750	missense variant	-	NC_000003.12:g.193617202G>A	UniProt,dbSNP
OPA1	O60313	p.Ser158Asn	VAR_022924	missense variant	-	NC_000003.12:g.193617202G>A	UniProt
OPA1	O60313	p.Ser158Asn	rs7624750	missense variant	-	NC_000003.12:g.193617202G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ser158Asn	RCV000676692	missense variant	-	NC_000003.12:g.193617202G>A	ClinVar
OPA1	O60313	p.Ser158Asn	RCV000081768	missense variant	-	NC_000003.12:g.193617202G>A	ClinVar
OPA1	O60313	p.Ser158Asn	RCV000339112	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193617202G>A	ClinVar
OPA1	O60313	p.Pro167Arg	rs754177232	missense variant	-	NC_000003.12:g.193617229C>G	ExAC,gnomAD
OPA1	O60313	p.Pro167Leu	rs754177232	missense variant	-	NC_000003.12:g.193617229C>T	ExAC,gnomAD
OPA1	O60313	p.Pro167Leu	rs754177232	missense variant	-	NC_000003.12:g.193617229C>T	UniProt,dbSNP
OPA1	O60313	p.Pro167Leu	VAR_022925	missense variant	-	NC_000003.12:g.193617229C>T	UniProt
OPA1	O60313	p.Asp168Glu	rs1262531072	missense variant	-	NC_000003.12:g.193617233C>G	gnomAD
OPA1	O60313	p.Phe169Ser	rs1386915863	missense variant	-	NC_000003.12:g.193617235T>C	TOPMed
OPA1	O60313	p.Ile172Leu	rs757394249	missense variant	-	NC_000003.12:g.193617243A>C	ExAC,gnomAD
OPA1	O60313	p.Ile172Met	rs863224126	missense variant	-	NC_000003.12:g.193617245T>G	-
OPA1	O60313	p.Ile172Met	RCV000196082	missense variant	-	NC_000003.12:g.193617245T>G	ClinVar
OPA1	O60313	p.Val173Ile	rs778997114	missense variant	-	NC_000003.12:g.193617246G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.SerLeu177ArgTer	rs863224141	stop gained	-	NC_000003.12:g.193617260_193617262delinsATA	-
OPA1	O60313	p.Ser177Arg	rs727504057	missense variant	-	NC_000003.12:g.193617260C>A	TOPMed
OPA1	O60313	p.Ser177Ile	rs150279202	missense variant	-	NC_000003.12:g.193617259G>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ser177Ile	RCV000400476	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193617259G>T	ClinVar
OPA1	O60313	p.Ser177Arg	RCV000153616	missense variant	-	NC_000003.12:g.193617260C>A	ClinVar
OPA1	O60313	p.Ser177Ile	RCV000197961	missense variant	-	NC_000003.12:g.193617259G>T	ClinVar
OPA1	O60313	p.Leu178Ter	rs727504058	stop gained	-	NC_000003.12:g.193617262T>A	TOPMed
OPA1	O60313	p.Leu178Ter	RCV000178304	nonsense	-	NC_000003.12:g.193617262T>A	ClinVar
OPA1	O60313	p.Lys180Asn	rs747354358	missense variant	-	NC_000003.12:g.193617269G>T	ExAC,gnomAD
OPA1	O60313	p.Lys180Arg	rs780451120	missense variant	-	NC_000003.12:g.193617268A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Lys180Thr	rs780451120	missense variant	-	NC_000003.12:g.193617268A>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asp181His	rs780818428	missense variant	-	NC_000003.12:g.193617270G>C	ExAC,gnomAD
OPA1	O60313	p.Asp181Gly	rs138884045	missense variant	-	NC_000003.12:g.193617271A>G	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asp181Gly	RCV000522753	missense variant	-	NC_000003.12:g.193617271A>G	ClinVar
OPA1	O60313	p.Phe182Leu	rs769335936	missense variant	-	NC_000003.12:g.193617273T>C	ExAC,gnomAD
OPA1	O60313	p.Phe182Leu	RCV000304297	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193617273T>C	ClinVar
OPA1	O60313	p.Phe183Ser	rs772737325	missense variant	-	NC_000003.12:g.193617277T>C	ExAC,gnomAD
OPA1	O60313	p.Gly186Ala	rs745405591	missense variant	-	NC_000003.12:g.193618869G>C	ExAC,gnomAD
OPA1	O60313	p.Ser187Phe	rs1173992034	missense variant	-	NC_000003.12:g.193618872C>T	gnomAD
OPA1	O60313	p.Pro188Leu	rs772090345	missense variant	-	NC_000003.12:g.193618875C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Glu189Lys	rs569675223	missense variant	-	NC_000003.12:g.193618877G>A	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Glu189Gln	rs569675223	missense variant	-	NC_000003.12:g.193618877G>C	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Glu189Lys	RCV000197331	missense variant	-	NC_000003.12:g.193618877G>A	ClinVar
OPA1	O60313	p.Thr191Ala	rs1389979442	missense variant	-	NC_000003.12:g.193618883A>G	TOPMed
OPA1	O60313	p.Thr191Met	rs772596317	missense variant	-	NC_000003.12:g.193618884C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ala192Val	RCV000363524	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193618887C>T	ClinVar
OPA1	O60313	p.Ala192Val	rs34307082	missense variant	-	NC_000003.12:g.193618887C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Phe193Tyr	rs774364044	missense variant	-	NC_000003.12:g.193618890T>A	ExAC,gnomAD
OPA1	O60313	p.Phe193Ser	rs774364044	missense variant	-	NC_000003.12:g.193618890T>C	ExAC,gnomAD
OPA1	O60313	p.Arg194Lys	rs759660552	missense variant	-	NC_000003.12:g.193618893G>A	ExAC,gnomAD
OPA1	O60313	p.Thr196Arg	rs1198238586	missense variant	-	NC_000003.12:g.193618899C>G	TOPMed
OPA1	O60313	p.Arg198Cys	rs1489880934	missense variant	-	NC_000003.12:g.193618904C>T	TOPMed
OPA1	O60313	p.Arg198His	rs541206547	missense variant	-	NC_000003.12:g.193618905G>A	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Gly199Arg	rs1271242678	missense variant	-	NC_000003.12:g.193618907G>A	TOPMed
OPA1	O60313	p.Ser200Phe	rs200243596	missense variant	-	NC_000003.12:g.193618911C>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ser200Phe	RCV000489535	missense variant	-	NC_000003.12:g.193618911C>T	ClinVar
OPA1	O60313	p.Ser200Phe	RCV000390873	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193618911C>T	ClinVar
OPA1	O60313	p.Ser200Phe	RCV000765718	missense variant	Abortive cerebellar ataxia (BEHRS)	NC_000003.12:g.193618911C>T	ClinVar
OPA1	O60313	p.Asp203Asn	rs367814426	missense variant	-	NC_000003.12:g.193618919G>A	ESP,TOPMed
OPA1	O60313	p.Phe206Leu	rs1464256773	missense variant	-	NC_000003.12:g.193618930T>G	TOPMed,gnomAD
OPA1	O60313	p.Val209Met	rs1385422732	missense variant	-	NC_000003.12:g.193631612G>A	gnomAD
OPA1	O60313	p.Asp211His	rs1383837356	missense variant	-	NC_000003.12:g.193631618G>C	gnomAD
OPA1	O60313	p.Lys212Arg	rs1329385935	missense variant	-	NC_000003.12:g.193631622A>G	TOPMed,gnomAD
OPA1	O60313	p.Glu213Lys	rs1223035487	missense variant	-	NC_000003.12:g.193631624G>A	gnomAD
OPA1	O60313	p.Lys214Ter	RCV000196603	frameshift	-	NC_000003.12:g.193631624_193631625GA[1]	ClinVar
OPA1	O60313	p.Ile215Thr	rs755170922	missense variant	-	NC_000003.12:g.193631631T>C	ExAC,gnomAD
OPA1	O60313	p.Ile215Val	rs747318052	missense variant	-	NC_000003.12:g.193631630A>G	ExAC,gnomAD
OPA1	O60313	p.Asp216Tyr	rs376067292	missense variant	-	NC_000003.12:g.193631633G>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gln219Arg	rs1258694003	missense variant	-	NC_000003.12:g.193631643A>G	TOPMed
OPA1	O60313	p.Leu222Pro	rs200223621	missense variant	-	NC_000003.12:g.193631652T>C	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Leu223Arg	rs770377465	missense variant	-	NC_000003.12:g.193631655T>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Thr225Ala	rs774668971	missense variant	-	NC_000003.12:g.193631660A>G	TOPMed,gnomAD
OPA1	O60313	p.Lys228Met	rs1374279494	missense variant	-	NC_000003.12:g.193635422A>T	gnomAD
OPA1	O60313	p.Tyr229Cys	rs760177302	missense variant	-	NC_000003.12:g.193635425A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Tyr229Ter	rs863224128	stop gained	-	NC_000003.12:g.193635426T>G	-
OPA1	O60313	p.Tyr229Ter	RCV000195515	nonsense	-	NC_000003.12:g.193635426T>G	ClinVar
OPA1	O60313	p.Tyr229Phe	rs760177302	missense variant	-	NC_000003.12:g.193635425A>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg229His	VAR_082805	Missense	-	-	UniProt
OPA1	O60313	p.Gln230His	rs776022520	missense variant	-	NC_000003.12:g.193635429G>T	ExAC,gnomAD
OPA1	O60313	p.Ile232Thr	rs951002467	missense variant	-	NC_000003.12:g.193635434T>C	TOPMed
OPA1	O60313	p.Glu234Lys	rs1319065221	missense variant	-	NC_000003.12:g.193635439G>A	gnomAD
OPA1	O60313	p.Glu234Ter	rs1319065221	stop gained	-	NC_000003.12:g.193635439G>T	gnomAD
OPA1	O60313	p.Glu234Ter	RCV000513373	nonsense	-	NC_000003.12:g.193635439G>T	ClinVar
OPA1	O60313	p.Arg235Gln	rs765118029	missense variant	-	NC_000003.12:g.193635443G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg235Ter	rs761743852	stop gained	-	NC_000003.12:g.193635442C>T	ExAC,gnomAD
OPA1	O60313	p.Arg235Ter	RCV000518107	nonsense	-	NC_000003.12:g.193635442C>T	ClinVar
OPA1	O60313	p.Lys238Arg	rs1339420283	missense variant	-	NC_000003.12:g.193635452A>G	gnomAD
OPA1	O60313	p.Asn240Lys	rs750185470	missense variant	-	NC_000003.12:g.193635459C>G	ExAC,gnomAD
OPA1	O60313	p.Leu243Ter	rs863225274	stop gained	-	NC_000003.12:g.193635467T>A	-
OPA1	O60313	p.Leu243Ter	RCV000201902	nonsense	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193635467T>A	ClinVar
OPA1	O60313	p.Leu246Ser	rs1488795500	missense variant	-	NC_000003.12:g.193635476T>C	TOPMed
OPA1	O60313	p.Val247Leu	rs1251411053	missense variant	-	NC_000003.12:g.193635478G>C	gnomAD
OPA1	O60313	p.Val247Ile	rs1251411053	missense variant	-	NC_000003.12:g.193635478G>A	gnomAD
OPA1	O60313	p.Gln249His	rs1179766934	missense variant	-	NC_000003.12:g.193635486G>C	gnomAD
OPA1	O60313	p.Lys250Arg	rs1291549256	missense variant	-	NC_000003.12:g.193635488A>G	TOPMed
OPA1	O60313	p.Asp251Tyr	rs1242284456	missense variant	-	NC_000003.12:g.193635490G>T	TOPMed,gnomAD
OPA1	O60313	p.Asp251Gly	rs1236699901	missense variant	-	NC_000003.12:g.193635491A>G	gnomAD
OPA1	O60313	p.Asp252Glu	rs147242797	missense variant	-	NC_000003.12:g.193635495C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gly254Ala	rs767846962	missense variant	-	NC_000003.12:g.193635500G>C	ExAC,gnomAD
OPA1	O60313	p.His257Arg	rs1409339839	missense variant	-	NC_000003.12:g.193635509A>G	gnomAD
OPA1	O60313	p.Ile265Ter	RCV000486512	frameshift	-	NC_000003.12:g.193637201_193637204TTGA[1]	ClinVar
OPA1	O60313	p.Asp266Gly	rs1335020558	missense variant	-	NC_000003.12:g.193637208A>G	gnomAD
OPA1	O60313	p.Met267Val	rs938874214	missense variant	-	NC_000003.12:g.193637210A>G	TOPMed,gnomAD
OPA1	O60313	p.Met267Thr	rs932927085	missense variant	-	NC_000003.12:g.193637211T>C	TOPMed,gnomAD
OPA1	O60313	p.Met267Leu	rs938874214	missense variant	-	NC_000003.12:g.193637210A>T	TOPMed,gnomAD
OPA1	O60313	p.Met267Val	RCV000523231	missense variant	-	NC_000003.12:g.193637210A>G	ClinVar
OPA1	O60313	p.Glu270Ala	rs1406231398	missense variant	-	NC_000003.12:g.193637220A>C	gnomAD
OPA1	O60313	p.Glu270Lys	VAR_060829	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Val271Ala	rs760938906	missense variant	-	NC_000003.12:g.193637223T>C	ExAC,gnomAD
OPA1	O60313	p.Leu272Pro	VAR_060830	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Asp273Ala	VAR_060831	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Val274Ile	rs1347426414	missense variant	-	NC_000003.12:g.193637231G>A	gnomAD
OPA1	O60313	p.Ala280Val	rs878971168	missense variant	-	NC_000003.12:g.193637250C>T	TOPMed
OPA1	O60313	p.Ala280Thr	rs148310479	missense variant	-	NC_000003.12:g.193637249G>A	ESP,ExAC,gnomAD
OPA1	O60313	p.Ser281Arg	rs765766805	missense variant	-	NC_000003.12:g.193637252A>C	ExAC
OPA1	O60313	p.Tyr282Cys	rs1406390113	missense variant	-	NC_000003.12:g.193637256A>G	gnomAD
OPA1	O60313	p.Thr284Met	rs141326740	missense variant	-	NC_000003.12:g.193637262C>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gln285Pro	rs201670377	missense variant	-	NC_000003.12:g.193637265A>C	ESP,TOPMed,gnomAD
OPA1	O60313	p.Arg290Trp	rs780333963	missense variant	-	NC_000003.12:g.193637279C>T	ExAC,gnomAD
OPA1	O60313	p.Arg290Gln	RCV000005389	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193637280G>A	ClinVar
OPA1	O60313	p.Arg290Trp	RCV000454141	missense variant	-	NC_000003.12:g.193637279C>T	ClinVar
OPA1	O60313	p.Arg290Gln	rs121908375	missense variant	-	NC_000003.12:g.193637280G>A	-
OPA1	O60313	p.Arg290Gln	rs121908375	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193637280G>A	UniProt,dbSNP
OPA1	O60313	p.Arg290Gln	VAR_011483	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193637280G>A	UniProt
OPA1	O60313	p.Arg290Gln	RCV000790668	missense variant	-	NC_000003.12:g.193637280G>A	ClinVar
OPA1	O60313	p.Val291Asp	rs1553876592	missense variant	-	NC_000003.12:g.193637953T>A	-
OPA1	O60313	p.Val291Asp	RCV000516478	missense variant	-	NC_000003.12:g.193637953T>A	ClinVar
OPA1	O60313	p.Val291Leu	RCV000709838	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193637952G>C	ClinVar
OPA1	O60313	p.Val293_Val294del	VAR_060833	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Val294Phe	rs863224131	missense variant	-	NC_000003.12:g.193637961G>T	-
OPA1	O60313	p.Val294Phe	RCV000196148	missense variant	-	NC_000003.12:g.193637961G>T	ClinVar
OPA1	O60313	p.Gly300Glu	rs28939082	missense variant	-	NC_000003.12:g.193637980G>A	-
OPA1	O60313	p.Gly300Glu	rs28939082	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193637980G>A	UniProt,dbSNP
OPA1	O60313	p.Gly300Glu	VAR_011484	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193637980G>A	UniProt
OPA1	O60313	p.Gly300Glu	RCV000005385	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193637980G>A	ClinVar
OPA1	O60313	p.Ser303Thr	rs1300441555	missense variant	-	NC_000003.12:g.193637989G>C	TOPMed
OPA1	O60313	p.Glu306Asp	rs755794042	missense variant	-	NC_000003.12:g.193637999A>T	ExAC,gnomAD
OPA1	O60313	p.Ala309Val	rs777107414	missense variant	-	NC_000003.12:g.193638007C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gln310Arg	rs770966290	missense variant	-	NC_000003.12:g.193638010A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gln310Glu	rs748829492	missense variant	-	NC_000003.12:g.193638009C>G	ExAC,gnomAD
OPA1	O60313	p.Ala311Asp	rs398124302	missense variant	-	NC_000003.12:g.193638013C>A	-
OPA1	O60313	p.Ala311Asp	RCV000081774	missense variant	-	NC_000003.12:g.193638013C>A	ClinVar
OPA1	O60313	p.Arg312Gln	rs372878876	missense variant	-	NC_000003.12:g.193638016G>A	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile313Met	rs771817617	missense variant	-	NC_000003.12:g.193638020A>G	ExAC,gnomAD
OPA1	O60313	p.Ile313Val	rs1371195522	missense variant	-	NC_000003.12:g.193638018A>G	gnomAD
OPA1	O60313	p.Gly317Ala	rs367749415	missense variant	-	NC_000003.12:g.193638031G>C	gnomAD
OPA1	O60313	p.Gly319Val	rs1203388364	missense variant	-	NC_000003.12:g.193638037G>T	gnomAD
OPA1	O60313	p.Met321Val	rs863224132	missense variant	-	NC_000003.12:g.193638042A>G	gnomAD
OPA1	O60313	p.Met321Val	RCV000198713	missense variant	-	NC_000003.12:g.193638042A>G	ClinVar
OPA1	O60313	p.Met321Ile	rs775371840	missense variant	-	NC_000003.12:g.193638044G>A	ExAC,gnomAD
OPA1	O60313	p.Arg324Cys	rs552243068	missense variant	-	NC_000003.12:g.193638051C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg324His	rs1475478496	missense variant	-	NC_000003.12:g.193638052G>A	TOPMed,gnomAD
OPA1	O60313	p.Arg324_Pro326del	VAR_060835	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Val327Ile	rs1358982822	missense variant	-	NC_000003.12:g.193638060G>A	TOPMed
OPA1	O60313	p.Lys328Thr	rs398124303	missense variant	-	NC_000003.12:g.193638064A>C	ExAC,gnomAD
OPA1	O60313	p.Lys328Arg	rs398124303	missense variant	-	NC_000003.12:g.193638064A>G	ExAC,gnomAD
OPA1	O60313	p.Lys328Arg	RCV000180653	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193638064A>G	ClinVar
OPA1	O60313	p.Lys328Asn	RCV000728078	missense variant	-	NC_000003.12:g.193638065G>T	ClinVar
OPA1	O60313	p.Lys328Arg	RCV000081775	missense variant	-	NC_000003.12:g.193638064A>G	ClinVar
OPA1	O60313	p.Thr330Ser	VAR_072125	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Gly334Ser	rs752981898	missense variant	-	NC_000003.12:g.193642780G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gly334Asp	rs863224133	missense variant	-	NC_000003.12:g.193642781G>A	gnomAD
OPA1	O60313	p.Pro335Ser	rs1057524630	missense variant	-	NC_000003.12:g.193642783C>T	gnomAD
OPA1	O60313	p.Pro335Ser	RCV000438050	missense variant	-	NC_000003.12:g.193642783C>T	ClinVar
OPA1	O60313	p.His337Asp	rs1553877591	missense variant	-	NC_000003.12:g.193642789C>G	-
OPA1	O60313	p.His337Pro	rs763830900	missense variant	-	NC_000003.12:g.193642790A>C	ExAC,gnomAD
OPA1	O60313	p.His337Asp	RCV000517008	missense variant	-	NC_000003.12:g.193642789C>G	ClinVar
OPA1	O60313	p.Lys342Glu	rs1057517999	missense variant	-	NC_000003.12:g.193642804A>G	-
OPA1	O60313	p.Lys342Glu	RCV000414220	missense variant	-	NC_000003.12:g.193642804A>G	ClinVar
OPA1	O60313	p.Asp343Ala	rs756981921	missense variant	-	NC_000003.12:g.193642808A>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asp343Gly	rs756981921	missense variant	-	NC_000003.12:g.193642808A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asp343Ala	RCV000197106	missense variant	-	NC_000003.12:g.193642808A>C	ClinVar
OPA1	O60313	p.Ser344Arg	rs1553877599	missense variant	-	NC_000003.12:g.193642810A>C	-
OPA1	O60313	p.Ser344Arg	RCV000676695	missense variant	-	NC_000003.12:g.193642810A>C	ClinVar
OPA1	O60313	p.Ser345Phe	rs1351958588	missense variant	-	NC_000003.12:g.193642814C>T	TOPMed,gnomAD
OPA1	O60313	p.Arg346Gln	RCV000498233	missense variant	-	NC_000003.12:g.193642817G>A	ClinVar
OPA1	O60313	p.Arg346Gln	rs1180256773	missense variant	-	NC_000003.12:g.193642817G>A	TOPMed
OPA1	O60313	p.Arg346Trp	rs764775588	missense variant	-	NC_000003.12:g.193642816C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu350Val	rs749983079	missense variant	-	NC_000003.12:g.193642828C>G	ExAC,gnomAD
OPA1	O60313	p.Glu354Gln	rs758223005	missense variant	-	NC_000003.12:g.193642840G>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asp355Asn	rs1268966471	missense variant	-	NC_000003.12:g.193642843G>A	TOPMed,gnomAD
OPA1	O60313	p.Ala357Thr	rs190223702	missense variant	-	NC_000003.12:g.193642978G>A	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Ala357Ter	RCV000201881	frameshift	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193642976_193642977dup	ClinVar
OPA1	O60313	p.Arg360Thr	rs777142558	missense variant	-	NC_000003.12:g.193642988G>C	ExAC,gnomAD
OPA1	O60313	p.His361Gln	rs144081717	missense variant	-	NC_000003.12:g.193642992T>G	ESP,ExAC,gnomAD
OPA1	O60313	p.His361Leu	rs139207741	missense variant	-	NC_000003.12:g.193642991A>T	ESP,TOPMed,gnomAD
OPA1	O60313	p.His361Gln	rs144081717	missense variant	-	NC_000003.12:g.193642992T>A	ESP,ExAC,gnomAD
OPA1	O60313	p.His361Arg	rs139207741	missense variant	-	NC_000003.12:g.193642991A>G	ESP,TOPMed,gnomAD
OPA1	O60313	p.Ile363Leu	rs765008217	missense variant	-	NC_000003.12:g.193642996A>C	ExAC,gnomAD
OPA1	O60313	p.Arg366Ter	rs104893753	stop gained	-	NC_000003.12:g.193643005C>T	-
OPA1	O60313	p.Arg366Gln	rs535885178	missense variant	-	NC_000003.12:g.193643006G>A	TOPMed,gnomAD
OPA1	O60313	p.Arg366Ter	RCV000790742	nonsense	-	NC_000003.12:g.193643005C>T	ClinVar
OPA1	O60313	p.Arg366Ter	RCV000005390	nonsense	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193643005C>T	ClinVar
OPA1	O60313	p.Arg366Gln	RCV000442276	missense variant	-	NC_000003.12:g.193643006G>A	ClinVar
OPA1	O60313	p.Lys369Thr	rs1460657196	missense variant	-	NC_000003.12:g.193643015A>C	gnomAD
OPA1	O60313	p.Val371Met	rs749882061	missense variant	-	NC_000003.12:g.193643020G>A	ExAC,gnomAD
OPA1	O60313	p.Lys372ArgTer	rs765587242	stop gained	-	NC_000003.12:g.193643023_193643024insGGT	ExAC
OPA1	O60313	p.Gly374Asp	rs146003075	missense variant	-	NC_000003.12:g.193643030G>A	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gly374Arg	rs757965997	missense variant	-	NC_000003.12:g.193643029G>C	ExAC,gnomAD
OPA1	O60313	p.Gly374Ala	rs146003075	missense variant	-	NC_000003.12:g.193643030G>C	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Cys375Arg	rs1313421147	missense variant	-	NC_000003.12:g.193643032T>C	gnomAD
OPA1	O60313	p.Thr376Pro	rs1279759244	missense variant	-	NC_000003.12:g.193643035A>C	TOPMed
OPA1	O60313	p.Val377Phe	rs780922750	missense variant	-	NC_000003.12:g.193643038G>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Val377Ile	rs780922750	missense variant	-	NC_000003.12:g.193643038G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Val377Ile	rs780922750	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643038G>A	UniProt,dbSNP
OPA1	O60313	p.Val377Ile	VAR_072126	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643038G>A	UniProt
OPA1	O60313	p.Pro379Ser	rs762004680	missense variant	-	NC_000003.12:g.193643044C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Thr381Ser	rs1174632014	missense variant	-	NC_000003.12:g.193643374C>G	gnomAD
OPA1	O60313	p.Ile382Met	rs143319805	missense variant	-	NC_000003.12:g.193643378A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile382Met	RCV000081747	missense variant	-	NC_000003.12:g.193643378A>G	ClinVar
OPA1	O60313	p.Leu384Phe	VAR_060838	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Asn385Ser	rs748519009	missense variant	-	NC_000003.12:g.193643386A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Lys387Glu	rs1343907999	missense variant	-	NC_000003.12:g.193643391A>G	gnomAD
OPA1	O60313	p.Gln392Arg	rs762601720	missense variant	-	NC_000003.12:g.193643407A>G	ExAC,gnomAD
OPA1	O60313	p.Met394Ile	rs377726977	missense variant	-	NC_000003.12:g.193643414G>A	ESP,TOPMed,gnomAD
OPA1	O60313	p.Met394Val	rs773887827	missense variant	-	NC_000003.12:g.193643412A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu396His	rs727504060	missense variant	-	NC_000003.12:g.193643419T>A	gnomAD
OPA1	O60313	p.Leu396Arg	rs727504060	missense variant	-	NC_000003.12:g.193643419T>G	gnomAD
OPA1	O60313	p.Leu396Arg	RCV000153621	missense variant	-	NC_000003.12:g.193643419T>G	ClinVar
OPA1	O60313	p.Leu396His	RCV000200712	missense variant	-	NC_000003.12:g.193643419T>A	ClinVar
OPA1	O60313	p.Leu396Pro	rs727504060	missense variant	-	NC_000003.12:g.193643419T>C	gnomAD
OPA1	O60313	p.Pro400Leu	RCV000174378	missense variant	-	NC_000003.12:g.193643431C>T	ClinVar
OPA1	O60313	p.Pro400Ser	RCV000508855	missense variant	Mitochondrial diseases	NC_000003.12:g.193643430C>T	ClinVar
OPA1	O60313	p.Pro400Leu	rs794727069	missense variant	-	NC_000003.12:g.193643431C>T	-
OPA1	O60313	p.Pro400Ser	rs1553877864	missense variant	-	NC_000003.12:g.193643430C>T	-
OPA1	O60313	p.Pro400Ala	VAR_067355	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Gly401Asp	rs863225276	missense variant	-	NC_000003.12:g.193643434G>A	-
OPA1	O60313	p.Gly401Asp	RCV000201900	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193643434G>A	ClinVar
OPA1	O60313	p.Val402Met	rs879255594	missense variant	-	NC_000003.12:g.193643436G>A	-
OPA1	O60313	p.Val402Met	rs879255594	missense variant	Behr syndrome (BEHRS)	NC_000003.12:g.193643436G>A	UniProt,dbSNP
OPA1	O60313	p.Val402Met	VAR_075903	missense variant	Behr syndrome (BEHRS)	NC_000003.12:g.193643436G>A	UniProt
OPA1	O60313	p.Val402Met	RCV000210739	missense variant	Abortive cerebellar ataxia (BEHRS)	NC_000003.12:g.193643436G>A	ClinVar
OPA1	O60313	p.Ile403Thr	rs863224135	missense variant	-	NC_000003.12:g.193643440T>C	-
OPA1	O60313	p.Ile403Thr	RCV000198337	missense variant	-	NC_000003.12:g.193643440T>C	ClinVar
OPA1	O60313	p.Asn404Ser	rs1242989944	missense variant	-	NC_000003.12:g.193643443A>G	TOPMed
OPA1	O60313	p.Asn404Lys	rs1281897308	missense variant	-	NC_000003.12:g.193643444T>G	gnomAD
OPA1	O60313	p.Gly409Ter	RCV000597597	frameshift	-	NC_000003.12:g.193643539dup	ClinVar
OPA1	O60313	p.Gly409Asp	rs752296610	missense variant	-	NC_000003.12:g.193643541G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ala411Gly	rs774053122	missense variant	-	NC_000003.12:g.193643547C>G	ExAC,gnomAD
OPA1	O60313	p.Ala411Val	rs774053122	missense variant	-	NC_000003.12:g.193643547C>T	ExAC,gnomAD
OPA1	O60313	p.Glu416Lys	rs1357216250	missense variant	-	NC_000003.12:g.193643561G>A	gnomAD
OPA1	O60313	p.Phe419Leu	rs1289248128	missense variant	-	NC_000003.12:g.193643570T>C	gnomAD
OPA1	O60313	p.Phe419Cys	rs1452342143	missense variant	-	NC_000003.12:g.193643571T>G	gnomAD
OPA1	O60313	p.Ser420Ile	rs1224127176	missense variant	-	NC_000003.12:g.193643574G>T	gnomAD
OPA1	O60313	p.Ser422Arg	rs1553877941	missense variant	-	NC_000003.12:g.193643581C>G	-
OPA1	O60313	p.Ser422Gly	rs1231502335	missense variant	-	NC_000003.12:g.193643579A>G	gnomAD
OPA1	O60313	p.Ser422Arg	RCV000516850	missense variant	-	NC_000003.12:g.193643581C>G	ClinVar
OPA1	O60313	p.Met426Leu	rs759032999	missense variant	-	NC_000003.12:g.193643591A>T	ExAC
OPA1	O60313	p.Gln427Lys	rs771512430	missense variant	-	NC_000003.12:g.193643594C>A	ExAC,gnomAD
OPA1	O60313	p.Pro429_Asn430del	VAR_060840	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Asn430Asp	VAR_060841	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Ile432Val	rs387906899	missense variant	-	NC_000003.12:g.193643609A>G	-
OPA1	O60313	p.Ile432Val	RCV000023414	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193643609A>G	ClinVar
OPA1	O60313	p.Ile432Val	RCV000508763	missense variant	Mitochondrial diseases	NC_000003.12:g.193643609A>G	ClinVar
OPA1	O60313	p.Ile432del	VAR_011485	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Ile433Met	rs1382660671	missense variant	-	NC_000003.12:g.193643614A>G	gnomAD
OPA1	O60313	p.Ile433Val	rs1179683327	missense variant	-	NC_000003.12:g.193643612A>G	gnomAD
OPA1	O60313	p.Leu434Pro	rs1553877946	missense variant	-	NC_000003.12:g.193643616T>C	-
OPA1	O60313	p.Leu434Pro	RCV000497888	missense variant	-	NC_000003.12:g.193643616T>C	ClinVar
OPA1	O60313	p.Gln437Arg	rs863225277	missense variant	-	NC_000003.12:g.193643625A>G	-
OPA1	O60313	p.Gln437Arg	RCV000274390	missense variant	-	NC_000003.12:g.193643625A>G	ClinVar
OPA1	O60313	p.Gln437Arg	RCV000201926	missense variant	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193643625A>G	ClinVar
OPA1	O60313	p.Asp438Val	VAR_060842	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Gly439Val	rs387906900	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643978G>T	UniProt,dbSNP
OPA1	O60313	p.Gly439Val	VAR_072127	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643978G>T	UniProt
OPA1	O60313	p.Gly439Val	rs387906900	missense variant	-	NC_000003.12:g.193643978G>T	-
OPA1	O60313	p.Gly439Val	RCV000023416	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193643978G>T	ClinVar
OPA1	O60313	p.Asp442Ala	rs1064795743	missense variant	-	NC_000003.12:g.193643987A>C	-
OPA1	O60313	p.Asp442Ala	RCV000484153	missense variant	-	NC_000003.12:g.193643987A>C	ClinVar
OPA1	O60313	p.Arg445Ser	rs886043340	missense variant	-	NC_000003.12:g.193643995C>A	TOPMed,gnomAD
OPA1	O60313	p.Arg445His	rs80356529	missense variant	-	NC_000003.12:g.193643996G>A	-
OPA1	O60313	p.Arg445Pro	rs80356529	missense variant	-	NC_000003.12:g.193643996G>C	-
OPA1	O60313	p.Arg445His	rs80356529	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643996G>A	UniProt,dbSNP
OPA1	O60313	p.Arg445His	VAR_015741	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193643996G>A	UniProt
OPA1	O60313	p.Arg445His	RCV000005396	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193643996G>A	ClinVar
OPA1	O60313	p.Arg445His	RCV000508953	missense variant	Mitochondrial diseases	NC_000003.12:g.193643996G>A	ClinVar
OPA1	O60313	p.Arg445Ser	RCV000294079	missense variant	-	NC_000003.12:g.193643995C>A	ClinVar
OPA1	O60313	p.Arg445Cys	rs886043340	missense variant	-	NC_000003.12:g.193643995C>T	TOPMed,gnomAD
OPA1	O60313	p.Arg445His	RCV000081749	missense variant	-	NC_000003.12:g.193643996G>A	ClinVar
OPA1	O60313	p.Arg445Pro	RCV000622959	missense variant	Inborn genetic diseases	NC_000003.12:g.193643996G>C	ClinVar
OPA1	O60313	p.Ile447Thr	rs1478412519	missense variant	-	NC_000003.12:g.193644002T>C	TOPMed
OPA1	O60313	p.Thr449Ala	rs776499463	missense variant	-	NC_000003.12:g.193644007A>G	ExAC,gnomAD
OPA1	O60313	p.Thr449Ter	RCV000184014	frameshift	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193644008del	ClinVar
OPA1	O60313	p.Thr449Arg	VAR_060843	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Thr449Pro	VAR_072128	Missense	Dominant optic atrophy plus syndrome (DOA+) [MIM:125250]	-	UniProt
OPA1	O60313	p.Asp450Gly	rs764886497	missense variant	-	NC_000003.12:g.193644011A>G	ExAC,gnomAD
OPA1	O60313	p.Asp450Asn	rs761655742	missense variant	-	NC_000003.12:g.193644010G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asp450His	rs761655742	missense variant	-	NC_000003.12:g.193644010G>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu451Phe	rs759794795	missense variant	-	NC_000003.12:g.193644015G>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu451Phe	rs759794795	missense variant	-	NC_000003.12:g.193644015G>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu451Ter	RCV000174779	frameshift	-	NC_000003.12:g.193644014del	ClinVar
OPA1	O60313	p.Val452Ile	rs1261850341	missense variant	-	NC_000003.12:g.193644016G>A	gnomAD
OPA1	O60313	p.Val452Ter	RCV000005392	frameshift	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193644016del	ClinVar
OPA1	O60313	p.Gln454Glu	rs1477934829	missense variant	-	NC_000003.12:g.193644022C>G	gnomAD
OPA1	O60313	p.His458Arg	rs752791350	missense variant	-	NC_000003.12:g.193644035A>G	ExAC,gnomAD
OPA1	O60313	p.Gly459Glu	VAR_072129	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Thr462Ile	rs756210793	missense variant	-	NC_000003.12:g.193644047C>T	ExAC,gnomAD
OPA1	O60313	p.Thr462Pro	rs1553878117	missense variant	-	NC_000003.12:g.193644046A>C	-
OPA1	O60313	p.Thr462Pro	RCV000497936	missense variant	-	NC_000003.12:g.193644046A>C	ClinVar
OPA1	O60313	p.Ile463Met	rs764645111	missense variant	-	NC_000003.12:g.193644051A>G	ExAC,gnomAD
OPA1	O60313	p.Ile463insIlePheIlePhe	VAR_060844	inframe_insertion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Phe464Leu	rs757786063	missense variant	-	NC_000003.12:g.193644052T>C	ExAC,gnomAD
OPA1	O60313	p.Phe464Cys	rs1316299925	missense variant	-	NC_000003.12:g.193644053T>G	gnomAD
OPA1	O60313	p.Val465Ile	rs1449438236	missense variant	-	NC_000003.12:g.193644055G>A	gnomAD
OPA1	O60313	p.Lys468Glu	VAR_060845	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Asp470Gly	VAR_060846	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Leu471Pro	RCV000517949	missense variant	-	NC_000003.12:g.193644074T>C	ClinVar
OPA1	O60313	p.Leu471Pro	rs1553878150	missense variant	-	NC_000003.12:g.193644074T>C	-
OPA1	O60313	p.Asn475Lys	RCV000197417	missense variant	-	NC_000003.12:g.193644087T>A	ClinVar
OPA1	O60313	p.Asn475Lys	rs863224137	missense variant	-	NC_000003.12:g.193644087T>A	gnomAD
OPA1	O60313	p.Val476Ile	rs779722414	missense variant	-	NC_000003.12:g.193644088G>A	ExAC,gnomAD
OPA1	O60313	p.Val476Leu	rs779722414	missense variant	-	NC_000003.12:g.193644088G>T	ExAC,gnomAD
OPA1	O60313	p.Ser478Gly	rs778928726	missense variant	-	NC_000003.12:g.193644094A>G	ExAC,gnomAD
OPA1	O60313	p.Ser480Thr	rs1284682083	missense variant	-	NC_000003.12:g.193644101G>C	gnomAD
OPA1	O60313	p.Arg481Lys	rs776222399	missense variant	-	NC_000003.12:g.193644104G>A	ExAC,gnomAD
OPA1	O60313	p.Gln483Arg	rs769834896	missense variant	-	NC_000003.12:g.193645557A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile486Leu	rs373593484	missense variant	-	NC_000003.12:g.193645565A>C	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile486Phe	rs373593484	missense variant	-	NC_000003.12:g.193645565A>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Glu487Lys	VAR_060847	Missense	Behr syndrome (BEHRS) [MIM:210000]	-	UniProt
OPA1	O60313	p.Glu487Lys	VAR_060847	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Gly488Arg	rs1553878554	missense variant	-	NC_000003.12:g.193645571G>A	-
OPA1	O60313	p.Gly488Arg	RCV000516363	missense variant	-	NC_000003.12:g.193645571G>A	ClinVar
OPA1	O60313	p.Lys489Glu	rs201301622	missense variant	-	NC_000003.12:g.193645574A>G	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Leu490Arg	rs1243027291	missense variant	-	NC_000003.12:g.193645578T>G	gnomAD
OPA1	O60313	p.Leu496Val	rs1312276339	missense variant	-	NC_000003.12:g.193645595T>G	gnomAD
OPA1	O60313	p.Val501Ile	RCV000517455	missense variant	-	NC_000003.12:g.193645610G>A	ClinVar
OPA1	O60313	p.Val501Ile	rs1553878564	missense variant	-	NC_000003.12:g.193645610G>A	-
OPA1	O60313	p.Val502Gly	VAR_072130	Missense	-	-	UniProt
OPA1	O60313	p.Thr503Lys	VAR_022928	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Lys505Asn	VAR_060848	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Asn507Tyr	rs778522595	missense variant	-	NC_000003.12:g.193645730A>T	ExAC,gnomAD
OPA1	O60313	p.Ser508Asn	rs1440774083	missense variant	-	NC_000003.12:g.193645734G>A	TOPMed
OPA1	O60313	p.Ser509Pro	rs1467607281	missense variant	-	NC_000003.12:g.193645736T>C	TOPMed,gnomAD
OPA1	O60313	p.Ser511Asn	rs745723164	missense variant	-	NC_000003.12:g.193645743G>A	ExAC,gnomAD
OPA1	O60313	p.Ser511Ter	RCV000594117	frameshift	-	NC_000003.12:g.193645742delinsTTC	ClinVar
OPA1	O60313	p.Ile512Thr	rs148834015	missense variant	-	NC_000003.12:g.193645746T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile512Thr	RCV000658247	missense variant	-	NC_000003.12:g.193645746T>C	ClinVar
OPA1	O60313	p.Ile512Ser	rs148834015	missense variant	-	NC_000003.12:g.193645746T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile515Leu	rs776979728	missense variant	-	NC_000003.12:g.193645754A>C	ExAC,gnomAD
OPA1	O60313	p.Ile515Thr	rs1258426164	missense variant	-	NC_000003.12:g.193645755T>C	gnomAD
OPA1	O60313	p.Glu517Gln	rs748215343	missense variant	-	NC_000003.12:g.193645760G>C	ExAC,gnomAD
OPA1	O60313	p.Glu520Asp	rs1424763009	missense variant	-	NC_000003.12:g.193645771A>C	gnomAD
OPA1	O60313	p.Glu521Lys	rs1399946720	missense variant	-	NC_000003.12:g.193645772G>A	TOPMed,gnomAD
OPA1	O60313	p.Glu521Asp	rs773284755	missense variant	-	NC_000003.12:g.193645774G>T	ExAC,gnomAD
OPA1	O60313	p.Gln524His	rs538099724	missense variant	-	NC_000003.12:g.193645783G>C	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Gln524His	RCV000280763	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193645783G>C	ClinVar
OPA1	O60313	p.Gln524Ter	RCV000712461	frameshift	-	NC_000003.12:g.193645780del	ClinVar
OPA1	O60313	p.Asn525Ile	rs1359019135	missense variant	-	NC_000003.12:g.193645785A>T	gnomAD
OPA1	O60313	p.Lys527Glu	rs766935532	missense variant	-	NC_000003.12:g.193645790A>G	ExAC,gnomAD
OPA1	O60313	p.Lys527Gln	rs766935532	missense variant	-	NC_000003.12:g.193645790A>C	ExAC,gnomAD
OPA1	O60313	p.Lys527Arg	rs750061842	missense variant	-	NC_000003.12:g.193645791A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Lys527Gln	RCV000756449	missense variant	-	NC_000003.12:g.193645790A>C	ClinVar
OPA1	O60313	p.Leu529Arg	rs1283533934	missense variant	-	NC_000003.12:g.193645797T>G	TOPMed
OPA1	O60313	p.Lys530Asn	rs767851780	missense variant	-	NC_000003.12:g.193647065G>T	ExAC,gnomAD
OPA1	O60313	p.Ser532Gly	rs1274025485	missense variant	-	NC_000003.12:g.193647069A>G	gnomAD
OPA1	O60313	p.Ser532Asn	rs1368090328	missense variant	-	NC_000003.12:g.193647070G>A	gnomAD
OPA1	O60313	p.Met533Ile	rs1352941521	missense variant	-	NC_000003.12:g.193647074G>T	TOPMed,gnomAD
OPA1	O60313	p.Met533Ile	rs1352941521	missense variant	-	NC_000003.12:g.193647074G>A	TOPMed,gnomAD
OPA1	O60313	p.Met533Val	rs142520373	missense variant	-	NC_000003.12:g.193647072A>G	ESP,ExAC,gnomAD
OPA1	O60313	p.Leu534Arg	RCV000210746	missense variant	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (MTDPS14)	NC_000003.12:g.193647076T>G	ClinVar
OPA1	O60313	p.Leu534Arg	rs869312995	missense variant	-	NC_000003.12:g.193647076T>G	-
OPA1	O60313	p.Leu534Arg	rs869312995	missense variant	Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14)	NC_000003.12:g.193647076T>G	UniProt,dbSNP
OPA1	O60313	p.Leu534Arg	VAR_075904	missense variant	Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14)	NC_000003.12:g.193647076T>G	UniProt
OPA1	O60313	p.Ala536Pro	rs182251953	missense variant	-	NC_000003.12:g.193647081G>C	1000Genomes,ESP,TOPMed,gnomAD
OPA1	O60313	p.Ala536Thr	rs182251953	missense variant	-	NC_000003.12:g.193647081G>A	1000Genomes,ESP,TOPMed,gnomAD
OPA1	O60313	p.His537Arg	rs1219722964	missense variant	-	NC_000003.12:g.193647085A>G	gnomAD
OPA1	O60313	p.His537Gln	rs753365296	missense variant	-	NC_000003.12:g.193647086C>G	ExAC,gnomAD
OPA1	O60313	p.Gln538Arg	rs1489038208	missense variant	-	NC_000003.12:g.193647088A>G	gnomAD
OPA1	O60313	p.Thr540Ala	rs756856992	missense variant	-	NC_000003.12:g.193647093A>G	ExAC,gnomAD
OPA1	O60313	p.Thr541Ile	rs765073068	missense variant	-	NC_000003.12:g.193647097C>T	ExAC,gnomAD
OPA1	O60313	p.Arg542Gly	rs919851274	missense variant	-	NC_000003.12:g.193647099A>G	TOPMed
OPA1	O60313	p.Leu544Val	rs1158710912	missense variant	-	NC_000003.12:g.193647105T>G	gnomAD
OPA1	O60313	p.Ser545Arg	rs398124298	missense variant	-	NC_000003.12:g.193647110C>A	-
OPA1	O60313	p.Ser545Arg	rs398124298	missense variant	-	NC_000003.12:g.193647110C>G	-
OPA1	O60313	p.Ser545Arg	RCV000175211	missense variant	-	NC_000003.12:g.193647110C>A	ClinVar
OPA1	O60313	p.Ser545Arg	RCV000023415	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193647110C>G	ClinVar
OPA1	O60313	p.Ser545Arg	RCV000508898	missense variant	Mitochondrial diseases	NC_000003.12:g.193647110C>G	ClinVar
OPA1	O60313	p.Asp550Tyr	rs1131691441	missense variant	-	NC_000003.12:g.193647123G>T	TOPMed,gnomAD
OPA1	O60313	p.Asp550Ter	RCV000484149	frameshift	-	NC_000003.12:g.193647124del	ClinVar
OPA1	O60313	p.Asp550Tyr	RCV000494604	missense variant	-	NC_000003.12:g.193647123G>T	ClinVar
OPA1	O60313	p.Asp550Asn	VAR_060849	Missense	-	-	UniProt
OPA1	O60313	p.Cys551Tyr	rs879255592	missense variant	-	NC_000003.12:g.193647127G>A	-
OPA1	O60313	p.Cys551Tyr	rs879255592	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193647127G>A	UniProt,dbSNP
OPA1	O60313	p.Cys551Tyr	VAR_060851	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193647127G>A	UniProt
OPA1	O60313	p.Cys551Tyr	RCV000210742	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193647127G>A	ClinVar
OPA1	O60313	p.Cys551del	VAR_060850	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Phe552Leu	RCV000762130	missense variant	-	NC_000003.12:g.193647129T>C	ClinVar
OPA1	O60313	p.Met555Ile	rs1210297472	missense variant	-	NC_000003.12:g.193647140G>T	gnomAD
OPA1	O60313	p.Arg557Ter	rs398124299	stop gained	-	NC_000003.12:g.193647144C>T	ExAC,gnomAD
OPA1	O60313	p.Arg557Ter	RCV000081753	nonsense	-	NC_000003.12:g.193647144C>T	ClinVar
OPA1	O60313	p.Arg557Gln	rs1438303929	missense variant	-	NC_000003.12:g.193647145G>A	gnomAD
OPA1	O60313	p.Glu558Ala	RCV000519220	missense variant	-	NC_000003.12:g.193647148A>C	ClinVar
OPA1	O60313	p.Glu558Ala	rs949979832	missense variant	-	NC_000003.12:g.193647148A>C	TOPMed,gnomAD
OPA1	O60313	p.Glu561Gln	rs1157991384	missense variant	-	NC_000003.12:g.193647156G>C	TOPMed
OPA1	O60313	p.Gln562Arg	rs1255428605	missense variant	-	NC_000003.12:g.193647160A>G	gnomAD
OPA1	O60313	p.Ser566Gly	rs779785513	missense variant	-	NC_000003.12:g.193647171A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Lys568Arg	rs1553879126	missense variant	-	NC_000003.12:g.193647178A>G	-
OPA1	O60313	p.Lys568Arg	RCV000521087	missense variant	-	NC_000003.12:g.193647178A>G	ClinVar
OPA1	O60313	p.Ala569Glu	rs1553879362	missense variant	-	NC_000003.12:g.193648070C>A	-
OPA1	O60313	p.Ala569Glu	RCV000585011	missense variant	-	NC_000003.12:g.193648070C>A	ClinVar
OPA1	O60313	p.Arg571Cys	rs762902650	missense variant	-	NC_000003.12:g.193648075C>T	ExAC,gnomAD
OPA1	O60313	p.Arg571His	RCV000709922	missense variant	Optic atrophy	NC_000003.12:g.193648076G>A	ClinVar
OPA1	O60313	p.Arg571His	rs140606054	missense variant	-	NC_000003.12:g.193648076G>A	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu574Pro	VAR_060852	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Glu575Lys	rs751326555	missense variant	-	NC_000003.12:g.193648087G>A	ExAC,gnomAD
OPA1	O60313	p.Trp578Ter	rs754836661	stop gained	-	NC_000003.12:g.193648097G>A	ExAC,gnomAD
OPA1	O60313	p.Tyr582Cys	rs121908376	missense variant	-	NC_000003.12:g.193648109A>G	-
OPA1	O60313	p.Tyr582Cys	rs121908376	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193648109A>G	UniProt,dbSNP
OPA1	O60313	p.Tyr582Cys	VAR_060853	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193648109A>G	UniProt
OPA1	O60313	p.Tyr582Cys	RCV000005395	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193648109A>G	ClinVar
OPA1	O60313	p.Arg584Cys	rs760300107	missense variant	-	NC_000003.12:g.193648114C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg584Gly	rs760300107	missense variant	-	NC_000003.12:g.193648114C>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg584His	rs754022891	missense variant	-	NC_000003.12:g.193648115G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg586Trp	rs1465904230	missense variant	-	NC_000003.12:g.193648120C>T	gnomAD
OPA1	O60313	p.Arg586_Asp589del	VAR_022930	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Arg590Gln	rs147077380	missense variant	-	NC_000003.12:g.193648133G>A	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg590Gln	rs147077380	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193648133G>A	UniProt,dbSNP
OPA1	O60313	p.Arg590Gln	VAR_060854	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193648133G>A	UniProt
OPA1	O60313	p.Arg590Trp	rs778998909	missense variant	-	NC_000003.12:g.193648132C>T	ExAC,gnomAD
OPA1	O60313	p.Arg590Trp	rs778998909	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193648132C>T	UniProt,dbSNP
OPA1	O60313	p.Arg590Trp	VAR_060855	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193648132C>T	UniProt
OPA1	O60313	p.Arg590Leu	rs147077380	missense variant	-	NC_000003.12:g.193648133G>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asn591Ser	rs1219357312	missense variant	-	NC_000003.12:g.193648796A>G	TOPMed
OPA1	O60313	p.Asn591Asp	rs138503909	missense variant	-	NC_000003.12:g.193648795A>G	ESP,TOPMed
OPA1	O60313	p.Leu593Pro	VAR_060856	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Leu593del	VAR_072131	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Phe594Ser	rs886042514	missense variant	-	NC_000003.12:g.193648805T>C	-
OPA1	O60313	p.Phe594Ser	RCV000289523	missense variant	-	NC_000003.12:g.193648805T>C	ClinVar
OPA1	O60313	p.Lys596Arg	rs748514298	missense variant	-	NC_000003.12:g.193648811A>G	ExAC,gnomAD
OPA1	O60313	p.Ala597Val	rs1286145767	missense variant	-	NC_000003.12:g.193648814C>T	TOPMed
OPA1	O60313	p.Lys598Glu	rs1284704814	missense variant	-	NC_000003.12:g.193648816A>G	TOPMed,gnomAD
OPA1	O60313	p.Asn599Thr	rs1488406021	missense variant	-	NC_000003.12:g.193648820A>C	gnomAD
OPA1	O60313	p.Ile601Val	rs769460409	missense variant	-	NC_000003.12:g.193648825A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile606Val	rs1043124113	missense variant	-	NC_000003.12:g.193648840A>G	TOPMed
OPA1	O60313	p.Ile606Thr	rs1264974051	missense variant	-	NC_000003.12:g.193648841T>C	gnomAD
OPA1	O60313	p.Ser609Asn	rs1437760364	missense variant	-	NC_000003.12:g.193648850G>A	gnomAD
OPA1	O60313	p.Ser609Gly	rs1396736267	missense variant	-	NC_000003.12:g.193648849A>G	gnomAD
OPA1	O60313	p.Gln610Arg	rs748821757	missense variant	-	NC_000003.12:g.193648853A>G	ExAC,gnomAD
OPA1	O60313	p.Val611Ile	rs200756304	missense variant	-	NC_000003.12:g.193648855G>A	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Val611Leu	rs200756304	missense variant	-	NC_000003.12:g.193648855G>C	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Lys614Ile	rs146601330	missense variant	-	NC_000003.12:g.193648865A>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Lys614Ile	RCV000199313	missense variant	-	NC_000003.12:g.193648865A>T	ClinVar
OPA1	O60313	p.Glu617Lys	rs1174134489	missense variant	-	NC_000003.12:g.193654863G>A	TOPMed
OPA1	O60313	p.Gln622Arg	rs1240919699	missense variant	-	NC_000003.12:g.193654879A>G	gnomAD
OPA1	O60313	p.Arg627Lys	rs772040791	missense variant	-	NC_000003.12:g.193654894G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg627Lys	RCV000484249	missense variant	-	NC_000003.12:g.193654894G>A	ClinVar
OPA1	O60313	p.Arg627Gly	rs745420039	missense variant	-	NC_000003.12:g.193654893A>G	ExAC,gnomAD
OPA1	O60313	p.His631Gln	rs1178855337	missense variant	-	NC_000003.12:g.193654907T>A	TOPMed
OPA1	O60313	p.His631Arg	rs923926484	missense variant	-	NC_000003.12:g.193654906A>G	TOPMed
OPA1	O60313	p.Ile633Leu	rs1480952132	missense variant	-	NC_000003.12:g.193654911A>C	TOPMed
OPA1	O60313	p.Tyr637Cys	rs1207347731	missense variant	-	NC_000003.12:g.193654924A>G	TOPMed
OPA1	O60313	p.Ala640Ser	rs776520906	missense variant	-	NC_000003.12:g.193654932G>T	ExAC,gnomAD
OPA1	O60313	p.Ala641Val	rs1315893899	missense variant	-	NC_000003.12:g.193654936C>T	gnomAD
OPA1	O60313	p.Met644Val	rs766758148	missense variant	-	NC_000003.12:g.193654944A>G	ExAC,gnomAD
OPA1	O60313	p.Asn645Ser	rs142694017	missense variant	-	NC_000003.12:g.193654948A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asn645Ser	RCV000756448	missense variant	-	NC_000003.12:g.193654948A>G	ClinVar
OPA1	O60313	p.Ser646Leu	VAR_060857	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Thr648Ser	rs755177892	missense variant	-	NC_000003.12:g.193654957C>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Phe649Ser	rs549869162	missense variant	-	NC_000003.12:g.193654960T>C	1000Genomes
OPA1	O60313	p.Ile655Met	rs753092180	missense variant	-	NC_000003.12:g.193654979C>G	ExAC,gnomAD
OPA1	O60313	p.Ile655Val	rs1423458322	missense variant	-	NC_000003.12:g.193654977A>G	gnomAD
OPA1	O60313	p.Lys658Arg	rs1477023151	missense variant	-	NC_000003.12:g.193654987A>G	gnomAD
OPA1	O60313	p.Trp660Arg	RCV000518460	missense variant	-	NC_000003.12:g.193654992T>C	ClinVar
OPA1	O60313	p.Trp660Arg	RCV000658330	missense variant	-	NC_000003.12:g.193654992T>C	ClinVar
OPA1	O60313	p.Trp660Arg	rs1553881180	missense variant	-	NC_000003.12:g.193654992T>C	-
OPA1	O60313	p.Asp662Tyr	rs1379001496	missense variant	-	NC_000003.12:g.193654998G>T	TOPMed
OPA1	O60313	p.Lys663Asn	rs777947380	missense variant	-	NC_000003.12:g.193655003A>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Pro666His	rs756868815	missense variant	-	NC_000003.12:g.193655011C>A	ExAC
OPA1	O60313	p.Asn667Asp	rs778601778	missense variant	-	NC_000003.12:g.193655013A>G	ExAC,gnomAD
OPA1	O60313	p.Asn667Ser	rs745367183	missense variant	-	NC_000003.12:g.193655014A>G	ExAC,gnomAD
OPA1	O60313	p.Lys668Asn	rs1400914862	missense variant	-	NC_000003.12:g.193655018A>C	gnomAD
OPA1	O60313	p.Glu679Val	rs367611411	missense variant	-	NC_000003.12:g.193657102A>T	ESP,gnomAD
OPA1	O60313	p.Glu680Val	rs1216211706	missense variant	-	NC_000003.12:g.193657105A>T	gnomAD
OPA1	O60313	p.Ser682Pro	rs917252521	missense variant	-	NC_000003.12:g.193657110T>C	TOPMed,gnomAD
OPA1	O60313	p.Ser682Thr	rs917252521	missense variant	-	NC_000003.12:g.193657110T>A	TOPMed,gnomAD
OPA1	O60313	p.Arg683His	rs542540811	missense variant	-	NC_000003.12:g.193657114G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Met685Leu	rs1023896326	missense variant	-	NC_000003.12:g.193657119A>C	gnomAD
OPA1	O60313	p.Thr686Ala	rs1455097606	missense variant	-	NC_000003.12:g.193657122A>G	gnomAD
OPA1	O60313	p.Glu687Gly	rs758100951	missense variant	-	NC_000003.12:g.193657126A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Glu687Ter	RCV000176222	frameshift	-	NC_000003.12:g.193657125_193657126del	ClinVar
OPA1	O60313	p.Pro688Ser	rs779383230	missense variant	-	NC_000003.12:g.193657128C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Pro688Leu	rs746579947	missense variant	-	NC_000003.12:g.193657129C>T	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Pro688Arg	rs746579947	missense variant	-	NC_000003.12:g.193657129C>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Pro688Ala	rs779383230	missense variant	-	NC_000003.12:g.193657128C>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile696Val	rs961676005	missense variant	-	NC_000003.12:g.193657152A>G	TOPMed
OPA1	O60313	p.Ile696Thr	rs1371621273	missense variant	-	NC_000003.12:g.193657153T>C	gnomAD
OPA1	O60313	p.Asp698Val	rs1334307405	missense variant	-	NC_000003.12:g.193657159A>T	TOPMed
OPA1	O60313	p.Leu700Phe	rs773148357	missense variant	-	NC_000003.12:g.193657164C>T	ExAC,gnomAD
OPA1	O60313	p.Leu700_Lys701del	VAR_060858	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Glu702Ala	rs1053264098	missense variant	-	NC_000003.12:g.193657171A>C	TOPMed
OPA1	O60313	p.Val704Ile	rs1285173467	missense variant	-	NC_000003.12:g.193657176G>A	TOPMed,gnomAD
OPA1	O60313	p.Lys705Gln	rs1318965694	missense variant	-	NC_000003.12:g.193657179A>C	gnomAD
OPA1	O60313	p.Ser708Asn	rs1429789663	missense variant	-	NC_000003.12:g.193657189G>A	TOPMed
OPA1	O60313	p.Ser708Arg	rs1051242775	missense variant	-	NC_000003.12:g.193657190T>G	TOPMed,gnomAD
OPA1	O60313	p.Ser708Gly	rs748872103	missense variant	-	NC_000003.12:g.193657188A>G	TOPMed,gnomAD
OPA1	O60313	p.Lys710Glu	rs772382178	missense variant	-	NC_000003.12:g.193657194A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg711Ter	RCV000756450	nonsense	-	NC_000003.12:g.193657197C>T	ClinVar
OPA1	O60313	p.Arg711Ter	rs863224906	stop gained	-	NC_000003.12:g.193657197C>T	-
OPA1	O60313	p.His712Arg	rs1177278443	missense variant	-	NC_000003.12:g.193657201A>G	TOPMed,gnomAD
OPA1	O60313	p.Trp714Ter	rs1371274631	stop gained	-	NC_000003.12:g.193657207G>A	TOPMed,gnomAD
OPA1	O60313	p.Ala718Val	rs1409629579	missense variant	-	NC_000003.12:g.193657219C>T	TOPMed,gnomAD
OPA1	O60313	p.Glu719Gly	rs199925668	missense variant	-	NC_000003.12:g.193657222A>G	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Asp720Asn	rs1394991054	missense variant	-	NC_000003.12:g.193657224G>A	gnomAD
OPA1	O60313	p.Ile725Val	rs756156167	missense variant	-	NC_000003.12:g.193658893A>G	ExAC,gnomAD
OPA1	O60313	p.Asn728Lys	rs1292852465	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193658904T>G	UniProt,dbSNP
OPA1	O60313	p.Asn728Lys	VAR_060859	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193658904T>G	UniProt
OPA1	O60313	p.Asn728Lys	rs1292852465	missense variant	-	NC_000003.12:g.193658904T>G	gnomAD
OPA1	O60313	p.Asn728Ser	rs749143995	missense variant	-	NC_000003.12:g.193658903A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg733Gln	rs1356373726	missense variant	-	NC_000003.12:g.193658918G>A	TOPMed,gnomAD
OPA1	O60313	p.Arg733Ter	RCV000497995	nonsense	-	NC_000003.12:g.193658917C>T	ClinVar
OPA1	O60313	p.Arg733Ter	rs1553784985	stop gained	-	NC_000003.12:g.193658917C>T	-
OPA1	O60313	p.Ile735Thr	rs1235460617	missense variant	-	NC_000003.12:g.193658924T>C	gnomAD
OPA1	O60313	p.Ile735Val	rs1223646365	missense variant	-	NC_000003.12:g.193658923A>G	TOPMed
OPA1	O60313	p.Asp742Glu	rs201226384	missense variant	-	NC_000003.12:g.193658946T>G	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile745Val	rs1216895678	missense variant	-	NC_000003.12:g.193658953A>G	TOPMed
OPA1	O60313	p.Phe747Ter	RCV000516638	frameshift	-	NC_000003.12:g.193658961del	ClinVar
OPA1	O60313	p.Met748Val	rs1340689631	missense variant	-	NC_000003.12:g.193658962A>G	TOPMed
OPA1	O60313	p.Glu750Asp	rs1274466249	missense variant	-	NC_000003.12:g.193658970G>T	gnomAD
OPA1	O60313	p.Ala751Thr	rs376321869	missense variant	-	NC_000003.12:g.193658971G>A	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu752Pro	RCV000734151	missense variant	-	NC_000003.12:g.193658975T>C	ClinVar
OPA1	O60313	p.Gln753Ter	rs398124301	stop gained	-	NC_000003.12:g.193658977C>T	-
OPA1	O60313	p.Gln753Ter	RCV000176319	nonsense	-	NC_000003.12:g.193658977C>T	ClinVar
OPA1	O60313	p.Arg755His	rs762258708	missense variant	-	NC_000003.12:g.193658984G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg755Gly	rs1257694738	missense variant	-	NC_000003.12:g.193658983C>G	gnomAD
OPA1	O60313	p.Arg755His	RCV000498081	missense variant	-	NC_000003.12:g.193658984G>A	ClinVar
OPA1	O60313	p.Lys757Gln	rs1191223125	missense variant	-	NC_000003.12:g.193658989A>C	gnomAD
OPA1	O60313	p.Asp758Asn	rs773419160	missense variant	-	NC_000003.12:g.193658992G>A	ExAC,gnomAD
OPA1	O60313	p.Thr759Ala	rs763443222	missense variant	-	NC_000003.12:g.193658995A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile763Val	rs771263962	missense variant	-	NC_000003.12:g.193659493A>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Val767Met	rs1440910404	missense variant	-	NC_000003.12:g.193659505G>A	gnomAD
OPA1	O60313	p.Gly768Asp	VAR_060860	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Pro769Ala	rs774613690	missense variant	-	NC_000003.12:g.193659511C>G	ExAC,gnomAD
OPA1	O60313	p.Lys772Arg	rs759219445	missense variant	-	NC_000003.12:g.193659521A>G	ExAC,gnomAD
OPA1	O60313	p.Lys773Arg	rs1018698828	missense variant	-	NC_000003.12:g.193659524A>G	gnomAD
OPA1	O60313	p.Trp775Leu	rs1287548904	missense variant	-	NC_000003.12:g.193659530G>T	gnomAD
OPA1	O60313	p.Trp778Ter	rs1553785338	stop gained	-	NC_000003.12:g.193659540G>A	-
OPA1	O60313	p.Trp778Ter	RCV000517407	nonsense	-	NC_000003.12:g.193659540G>A	ClinVar
OPA1	O60313	p.Arg781Gln	rs1254838960	missense variant	-	NC_000003.12:g.193659548G>A	TOPMed,gnomAD
OPA1	O60313	p.Arg781Gly	rs190235251	missense variant	-	NC_000003.12:g.193659547C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg781Trp	rs190235251	missense variant	-	NC_000003.12:g.193659547C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg781Trp	RCV000287680	missense variant	Optic Atrophy, Dominant	NC_000003.12:g.193659547C>T	ClinVar
OPA1	O60313	p.Gln783Arg	rs118203755	missense variant	-	NC_000003.12:g.193659554A>G	ExAC,gnomAD
OPA1	O60313	p.Glu784Gly	rs757170951	missense variant	-	NC_000003.12:g.193659557A>G	ExAC,gnomAD
OPA1	O60313	p.Gln785Arg	rs1064797302	missense variant	-	NC_000003.12:g.193659560A>G	-
OPA1	O60313	p.Gln785Arg	rs1064797302	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193659560A>G	UniProt,dbSNP
OPA1	O60313	p.Gln785Arg	VAR_060862	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193659560A>G	UniProt
OPA1	O60313	p.Gln785Arg	RCV000488050	missense variant	-	NC_000003.12:g.193659560A>G	ClinVar
OPA1	O60313	p.Gln785His	rs1204197719	missense variant	-	NC_000003.12:g.193659561G>C	TOPMed
OPA1	O60313	p.Asn789Ser	rs200428940	missense variant	-	NC_000003.12:g.193662832A>G	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asn789Asp	rs1460970860	missense variant	-	NC_000003.12:g.193662831A>G	TOPMed,gnomAD
OPA1	O60313	p.Asn789His	rs1460970860	missense variant	-	NC_000003.12:g.193662831A>C	TOPMed,gnomAD
OPA1	O60313	p.Asn793Lys	rs758248456	missense variant	-	NC_000003.12:g.193662845T>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Glu794Ter	RCV000729248	frameshift	-	NC_000003.12:g.193662848_193662849del	ClinVar
OPA1	O60313	p.Glu796Ter	rs1553786499	stop gained	-	NC_000003.12:g.193662852G>T	-
OPA1	O60313	p.Glu796Ter	RCV000512693	nonsense	-	NC_000003.12:g.193662852G>T	ClinVar
OPA1	O60313	p.Met798Val	rs779838884	missense variant	-	NC_000003.12:g.193662858A>G	ExAC
OPA1	O60313	p.Ala810Thr	rs777863747	missense variant	-	NC_000003.12:g.193662894G>A	ExAC,gnomAD
OPA1	O60313	p.Ile814Val	rs771460472	missense variant	-	NC_000003.12:g.193662906A>G	ExAC
OPA1	O60313	p.Arg818Gln	rs954754062	missense variant	-	NC_000003.12:g.193662919G>A	TOPMed,gnomAD
OPA1	O60313	p.Arg818Trp	rs143252541	missense variant	-	NC_000003.12:g.193662918C>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg818Trp	RCV000498253	missense variant	-	NC_000003.12:g.193662918C>T	ClinVar
OPA1	O60313	p.Glu822Val	rs370507491	missense variant	-	NC_000003.12:g.193662931A>T	ESP,ExAC,TOPMed
OPA1	O60313	p.Ser823Pro	rs372766468	missense variant	-	NC_000003.12:g.193662933T>C	ESP,ExAC,gnomAD
OPA1	O60313	p.Ser823Tyr	VAR_060863	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Arg824Gln	rs200412464	missense variant	-	NC_000003.12:g.193662937G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg824Ter	rs879255593	stop gained	-	NC_000003.12:g.193662936C>T	-
OPA1	O60313	p.Arg824Ter	RCV000210747	nonsense	Abortive cerebellar ataxia (BEHRS)	NC_000003.12:g.193662936C>T	ClinVar
OPA1	O60313	p.Arg824Gln	RCV000487683	missense variant	-	NC_000003.12:g.193662937G>A	ClinVar
OPA1	O60313	p.Glu827Lys	rs765208285	missense variant	-	NC_000003.12:g.193662945G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Val828Ile	rs773078058	missense variant	-	NC_000003.12:g.193662948G>A	ExAC,gnomAD
OPA1	O60313	p.Ser831Asn	rs1421273845	missense variant	-	NC_000003.12:g.193662958G>A	TOPMed
OPA1	O60313	p.Thr836Ile	rs772742121	missense variant	-	NC_000003.12:g.193664890C>T	ExAC,gnomAD
OPA1	O60313	p.Val840Ile	rs905919862	missense variant	-	NC_000003.12:g.193664901G>A	TOPMed,gnomAD
OPA1	O60313	p.Tyr841Phe	rs1175079347	missense variant	-	NC_000003.12:g.193664905A>T	gnomAD
OPA1	O60313	p.Tyr841Cys	VAR_060864	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.His844Arg	rs762831954	missense variant	-	NC_000003.12:g.193664914A>G	ExAC,gnomAD
OPA1	O60313	p.Leu850Val	rs759303917	missense variant	-	NC_000003.12:g.193664931C>G	ExAC,TOPMed,gnomAD
OPA1	O60313	p.His852Gln	rs767354521	missense variant	-	NC_000003.12:g.193664939T>G	ExAC,gnomAD
OPA1	O60313	p.Leu855Ile	rs753938624	missense variant	-	NC_000003.12:g.193664946C>A	ExAC,gnomAD
OPA1	O60313	p.Leu855Arg	rs139106405	missense variant	-	NC_000003.12:g.193664947T>G	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Leu855Arg	RCV000729362	missense variant	-	NC_000003.12:g.193664947T>G	ClinVar
OPA1	O60313	p.Cys856Ser	rs765357854	missense variant	-	NC_000003.12:g.193664949T>A	ExAC,gnomAD
OPA1	O60313	p.Arg857Gln	rs1215497493	missense variant	-	NC_000003.12:g.193664953G>A	gnomAD
OPA1	O60313	p.Arg857Ter	rs794727405	stop gained	-	NC_000003.12:g.193664952C>T	-
OPA1	O60313	p.Arg857Ter	RCV000199431	nonsense	-	NC_000003.12:g.193664952C>T	ClinVar
OPA1	O60313	p.Arg858Thr	rs1261746583	missense variant	-	NC_000003.12:g.193664956G>C	gnomAD
OPA1	O60313	p.Gly859Val	rs893422727	missense variant	-	NC_000003.12:g.193664959G>T	TOPMed
OPA1	O60313	p.Tyr861Cys	rs112388167	missense variant	-	NC_000003.12:g.193664965A>G	ExAC,gnomAD
OPA1	O60313	p.Arg865Ser	rs1192362976	missense variant	-	NC_000003.12:g.193664978G>C	TOPMed,gnomAD
OPA1	O60313	p.His866Arg	rs556711091	missense variant	-	NC_000003.12:g.193664980A>G	1000Genomes,ExAC,gnomAD
OPA1	O60313	p.Val868Leu	rs780773698	missense variant	-	NC_000003.12:g.193664985G>T	ExAC,gnomAD
OPA1	O60313	p.Val868Ile	rs780773698	missense variant	-	NC_000003.12:g.193664985G>A	ExAC,gnomAD
OPA1	O60313	p.Val877Met	rs1170133760	missense variant	-	NC_000003.12:g.193666311G>A	TOPMed
OPA1	O60313	p.Arg882Cys	rs368227232	missense variant	-	NC_000003.12:g.193666326C>T	ESP,ExAC,gnomAD
OPA1	O60313	p.Arg882Leu	VAR_060865	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Ile883Met	rs1177373525	missense variant	-	NC_000003.12:g.193666331A>G	TOPMed,gnomAD
OPA1	O60313	p.Ile883Val	rs149866497	missense variant	-	NC_000003.12:g.193666329A>G	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ile883Val	RCV000195791	missense variant	-	NC_000003.12:g.193666329A>G	ClinVar
OPA1	O60313	p.Arg885His	rs937546860	missense variant	-	NC_000003.12:g.193666336G>A	TOPMed,gnomAD
OPA1	O60313	p.Arg885Cys	rs927450242	missense variant	-	NC_000003.12:g.193666335C>T	TOPMed,gnomAD
OPA1	O60313	p.Arg885Ter	RCV000273669	frameshift	-	NC_000003.12:g.193666333dup	ClinVar
OPA1	O60313	p.Met886Val	rs745913434	missense variant	-	NC_000003.12:g.193666338A>G	gnomAD
OPA1	O60313	p.Met886Thr	rs1204428154	missense variant	-	NC_000003.12:g.193666339T>C	TOPMed
OPA1	O60313	p.Leu887Pro	VAR_060866	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Ala888Asp	rs1463006313	missense variant	-	NC_000003.12:g.193666345C>A	gnomAD
OPA1	O60313	p.Ala891Thr	rs532733755	missense variant	-	NC_000003.12:g.193666353G>A	1000Genomes,TOPMed,gnomAD
OPA1	O60313	p.Asn892Thr	rs750518068	missense variant	-	NC_000003.12:g.193666357A>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Asn892Thr	RCV000195859	missense variant	-	NC_000003.12:g.193666357A>C	ClinVar
OPA1	O60313	p.Thr893Ala	rs763191488	missense variant	-	NC_000003.12:g.193666359A>G	ExAC,gnomAD
OPA1	O60313	p.Leu898Val	rs1231786410	missense variant	-	NC_000003.12:g.193666374C>G	gnomAD
OPA1	O60313	p.Leu898Phe	rs1231786410	missense variant	-	NC_000003.12:g.193666374C>T	gnomAD
OPA1	O60313	p.Asn900Ile	rs1293122850	missense variant	-	NC_000003.12:g.193666381A>T	gnomAD
OPA1	O60313	p.Thr901Ile	rs1336102265	missense variant	-	NC_000003.12:g.193666384C>T	gnomAD
OPA1	O60313	p.Glu902Lys	rs921531106	missense variant	-	NC_000003.12:g.193666386G>A	TOPMed
OPA1	O60313	p.Val903Gly	rs1010061895	missense variant	-	NC_000003.12:g.193667170T>G	TOPMed
OPA1	O60313	p.Arg905Gln	rs763280368	missense variant	-	NC_000003.12:g.193667176G>A	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Glu907Gly	rs863224138	missense variant	-	NC_000003.12:g.193667182A>G	UniProt,dbSNP
OPA1	O60313	p.Glu907Gly	VAR_060867	missense variant	-	NC_000003.12:g.193667182A>G	UniProt
OPA1	O60313	p.Glu907Gly	rs863224138	missense variant	-	NC_000003.12:g.193667182A>G	gnomAD
OPA1	O60313	p.Glu907Gly	RCV000197741	missense variant	-	NC_000003.12:g.193667182A>G	ClinVar
OPA1	O60313	p.Asn909Ter	RCV000519360	frameshift	-	NC_000003.12:g.193667189_193667193del	ClinVar
OPA1	O60313	p.Val910Asp	rs387906901	missense variant	-	NC_000003.12:g.193667191T>A	-
OPA1	O60313	p.Val910Asp	rs387906901	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193667191T>A	UniProt,dbSNP
OPA1	O60313	p.Val910Asp	VAR_072132	missense variant	Dominant optic atrophy plus syndrome (DOA+)	NC_000003.12:g.193667191T>A	UniProt
OPA1	O60313	p.Val910Asp	RCV000023417	missense variant	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193667191T>A	ClinVar
OPA1	O60313	p.Val910del	VAR_072133	inframe_deletion	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Val913Leu	rs863224139	missense variant	-	NC_000003.12:g.193667199G>T	-
OPA1	O60313	p.Val913Leu	RCV000200057	missense variant	-	NC_000003.12:g.193667199G>T	ClinVar
OPA1	O60313	p.Asp916Val	rs768115265	missense variant	-	NC_000003.12:g.193667209A>T	ExAC,gnomAD
OPA1	O60313	p.Phe917Leu	rs1326349949	missense variant	-	NC_000003.12:g.193667213T>G	TOPMed,gnomAD
OPA1	O60313	p.Asp920Gly	rs1432160044	missense variant	-	NC_000003.12:g.193667221A>G	gnomAD
OPA1	O60313	p.Asp920Ala	rs1432160044	missense variant	-	NC_000003.12:g.193667221A>C	gnomAD
OPA1	O60313	p.Asp920Ter	RCV000585286	nonsense	-	NC_000003.12:g.193667223_193667236del	ClinVar
OPA1	O60313	p.Gly921Cys	rs752986280	missense variant	-	NC_000003.12:g.193667223G>T	ExAC,gnomAD
OPA1	O60313	p.Gly921Asp	rs1366871388	missense variant	-	NC_000003.12:g.193667224G>A	TOPMed
OPA1	O60313	p.Ile925Ser	rs1232966048	missense variant	-	NC_000003.12:g.193667236T>G	TOPMed,gnomAD
OPA1	O60313	p.Arg932His	rs1160551128	missense variant	-	NC_000003.12:g.193667257G>A	TOPMed,gnomAD
OPA1	O60313	p.Arg932Cys	rs145710079	missense variant	-	NC_000003.12:g.193667256C>T	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Arg932Cys	rs145710079	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193667256C>T	UniProt,dbSNP
OPA1	O60313	p.Arg932Cys	VAR_060868	missense variant	Optic atrophy 1 (OPA1)	NC_000003.12:g.193667256C>T	UniProt
OPA1	O60313	p.Val933Ile	RCV000489553	missense variant	-	NC_000003.12:g.193667259G>A	ClinVar
OPA1	O60313	p.Val933Ile	rs375733283	missense variant	-	NC_000003.12:g.193667259G>A	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gln934His	rs369942555	missense variant	-	NC_000003.12:g.193667264A>C	ESP,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Gln934Glu	rs1219972173	missense variant	-	NC_000003.12:g.193667262C>G	TOPMed
OPA1	O60313	p.Gln934Arg	rs756937966	missense variant	-	NC_000003.12:g.193667263A>G	ExAC,gnomAD
OPA1	O60313	p.Glu937Gly	rs1340237932	missense variant	-	NC_000003.12:g.193667272A>G	TOPMed
OPA1	O60313	p.Asp938Glu	rs1272220841	missense variant	-	NC_000003.12:g.193667276C>G	TOPMed
OPA1	O60313	p.Asp938Asn	rs1251088119	missense variant	-	NC_000003.12:g.193667274G>A	gnomAD
OPA1	O60313	p.Leu939Pro	VAR_028370	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Lys940Glu	rs780106471	missense variant	-	NC_000003.12:g.193667280A>G	ExAC,gnomAD
OPA1	O60313	p.Lys941Ter	RCV000300226	frameshift	-	NC_000003.12:g.193692066_193692067del	ClinVar
OPA1	O60313	p.Val942Leu	rs1022933274	missense variant	-	NC_000003.12:g.193692068G>C	TOPMed,gnomAD
OPA1	O60313	p.Val942Ile	rs1022933274	missense variant	-	NC_000003.12:g.193692068G>A	TOPMed,gnomAD
OPA1	O60313	p.Arg943Ter	RCV000005393	frameshift	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193692070del	ClinVar
OPA1	O60313	p.Gln946Glu	rs1239219727	missense variant	-	NC_000003.12:g.193692080C>G	TOPMed
OPA1	O60313	p.Lys948Gln	rs780323593	missense variant	-	NC_000003.12:g.193692086A>C	ExAC,gnomAD
OPA1	O60313	p.Leu949Val	rs747237694	missense variant	-	NC_000003.12:g.193692089C>G	ExAC,gnomAD
OPA1	O60313	p.Leu949Ile	rs747237694	missense variant	-	NC_000003.12:g.193692089C>A	ExAC,gnomAD
OPA1	O60313	p.Leu949Pro	VAR_060869	Missense	Optic atrophy 1 (OPA1) [MIM:165500]	-	UniProt
OPA1	O60313	p.Asp950Ter	RCV000023413	frameshift	Autosomal dominant optic atrophy plus syndrome	NC_000003.12:g.193692092_193692093del	ClinVar
OPA1	O60313	p.Asp950Glu	rs1351216772	missense variant	-	NC_000003.12:g.193692094T>G	TOPMed
OPA1	O60313	p.Asp950Ter	RCV000005397	frameshift	Dominant hereditary optic atrophy (OPA1)	NC_000003.12:g.193692092_193692093del	ClinVar
OPA1	O60313	p.Ala951Gly	rs577055148	missense variant	-	NC_000003.12:g.193692096C>G	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ala951Thr	rs1166323851	missense variant	-	NC_000003.12:g.193692095G>A	gnomAD
OPA1	O60313	p.Phe952Ter	RCV000516837	nonsense	-	NC_000003.12:g.193692092_193692098dup	ClinVar
OPA1	O60313	p.Ile953Thr	rs781270720	missense variant	-	NC_000003.12:g.193692102T>C	ExAC,TOPMed,gnomAD
OPA1	O60313	p.Glu954Asp	rs189036094	missense variant	-	NC_000003.12:g.193692106A>C	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Glu954Asp	RCV000726784	missense variant	-	NC_000003.12:g.193692106A>C	ClinVar
OPA1	O60313	p.Ala955Thr	rs1300520291	missense variant	-	NC_000003.12:g.193692107G>A	TOPMed
OPA1	O60313	p.Ala955Val	rs1449821560	missense variant	-	NC_000003.12:g.193692108C>T	TOPMed
OPA1	O60313	p.Leu956Phe	rs868448372	missense variant	-	NC_000003.12:g.193692110C>T	TOPMed,gnomAD
OPA1	O60313	p.Leu956Ile	rs868448372	missense variant	-	NC_000003.12:g.193692110C>A	TOPMed,gnomAD
OPA1	O60313	p.His957Tyr	rs1346813499	missense variant	-	NC_000003.12:g.193692113C>T	gnomAD
OPA1	O60313	p.Lys960Glu	rs1221865839	missense variant	-	NC_000003.12:g.193692122A>G	gnomAD
OPA1	O60313	p.Ter961Tyr	rs143929819	stop lost	-	NC_000003.12:g.193692127A>C	1000Genomes,ExAC,TOPMed,gnomAD
OPA1	O60313	p.Ter961Tyr	RCV000176886	stop lost	-	NC_000003.12:g.193692127A>C	ClinVar
FZD6	O60353	p.Glu2Gly	rs1210913676	missense variant	-	NC_000008.11:g.103300112A>G	gnomAD
FZD6	O60353	p.Met3Val	rs748362787	missense variant	-	NC_000008.11:g.103300114A>G	ExAC,gnomAD
FZD6	O60353	p.Met3Ile	rs1210122452	missense variant	-	NC_000008.11:g.103300116G>A	TOPMed
FZD6	O60353	p.Phe4Cys	rs1331820142	missense variant	-	NC_000008.11:g.103300118T>G	TOPMed
FZD6	O60353	p.Phe6Ile	rs1223505061	missense variant	-	NC_000008.11:g.103300123T>A	TOPMed
FZD6	O60353	p.Phe6Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103300125T>G	NCI-TCGA
FZD6	O60353	p.Thr9Met	rs754581593	missense variant	-	NC_000008.11:g.103300133C>T	ExAC,TOPMed
FZD6	O60353	p.Cys10Gly	rs1198557940	missense variant	-	NC_000008.11:g.103300135T>G	gnomAD
FZD6	O60353	p.Ile11Phe	rs770928662	missense variant	-	NC_000008.11:g.103300138A>T	ExAC
FZD6	O60353	p.Ile11Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103300138A>G	NCI-TCGA
FZD6	O60353	p.Leu13Val	COSM1094458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103300144C>G	NCI-TCGA Cosmic
FZD6	O60353	p.Pro14Leu	rs1428125576	missense variant	-	NC_000008.11:g.103300148C>T	gnomAD
FZD6	O60353	p.Leu15Ile	rs774093482	missense variant	-	NC_000008.11:g.103300150C>A	ExAC,gnomAD
FZD6	O60353	p.Leu16Val	rs117477069	missense variant	-	NC_000008.11:g.103300153C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser20Thr	rs375688505	missense variant	-	NC_000008.11:g.103300166G>C	ESP,gnomAD
FZD6	O60353	p.Ser20Asn	rs375688505	missense variant	-	NC_000008.11:g.103300166G>A	ESP,gnomAD
FZD6	O60353	p.Ser20Cys	rs372702981	missense variant	-	NC_000008.11:g.103300165A>T	ESP,ExAC,gnomAD
FZD6	O60353	p.Thr23Ile	rs760374585	missense variant	-	NC_000008.11:g.103300175C>T	ExAC,gnomAD
FZD6	O60353	p.Val29Phe	rs150839394	missense variant	-	NC_000008.11:g.103300192G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val29Ile	rs150839394	missense variant	-	NC_000008.11:g.103300192G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg31Ser	rs568034251	missense variant	-	NC_000008.11:g.103300200A>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg31Lys	rs1214604944	missense variant	-	NC_000008.11:g.103300199G>A	TOPMed,gnomAD
FZD6	O60353	p.Cys32Tyr	rs752048729	missense variant	-	NC_000008.11:g.103300202G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Cys32Phe	rs752048729	missense variant	-	NC_000008.11:g.103300202G>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met33Val	rs827528	missense variant	-	NC_000008.11:g.103300204A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met33Val	rs827528	missense variant	-	NC_000008.11:g.103300204A>G	UniProt,dbSNP
FZD6	O60353	p.Met33Val	VAR_047440	missense variant	-	NC_000008.11:g.103300204A>G	UniProt
FZD6	O60353	p.Met33Ile	rs374556380	missense variant	-	NC_000008.11:g.103300206G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met33Leu	rs827528	missense variant	-	NC_000008.11:g.103300204A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Lys34Thr	rs111920622	missense variant	-	NC_000008.11:g.103300208A>C	TOPMed
FZD6	O60353	p.Lys34Gln	rs970993467	missense variant	-	NC_000008.11:g.103300207A>C	TOPMed
FZD6	O60353	p.Ala36Ser	rs1463161138	missense variant	-	NC_000008.11:g.103300213G>T	TOPMed
FZD6	O60353	p.Asn38Ser	rs752962628	missense variant	-	NC_000008.11:g.103300220A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met39Thr	rs1322899571	missense variant	-	NC_000008.11:g.103300223T>C	TOPMed
FZD6	O60353	p.Phe42Ser	rs1292467728	missense variant	-	NC_000008.11:g.103300232T>C	TOPMed
FZD6	O60353	p.Phe42SerPheSerTerUnk	COSM1453719	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.103300228T>-	NCI-TCGA Cosmic
FZD6	O60353	p.Asn44Asp	COSM3884263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103300237A>G	NCI-TCGA Cosmic
FZD6	O60353	p.Asn44Ser	rs553335677	missense variant	-	NC_000008.11:g.103300238A>G	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Met46Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103300245G>T	NCI-TCGA
FZD6	O60353	p.Gly47Ser	rs1360566064	missense variant	-	NC_000008.11:g.103300246G>A	gnomAD
FZD6	O60353	p.His48Leu	rs777814122	missense variant	-	NC_000008.11:g.103300250A>T	ExAC,gnomAD
FZD6	O60353	p.Gln51Arg	rs1300823391	missense variant	-	NC_000008.11:g.103300259A>G	gnomAD
FZD6	O60353	p.Ser52Asn	rs757230055	missense variant	-	NC_000008.11:g.103300262G>A	ExAC,gnomAD
FZD6	O60353	p.Ser52Gly	rs753953103	missense variant	-	NC_000008.11:g.103300261A>G	ExAC,gnomAD
FZD6	O60353	p.Ile53Val	rs1348502085	missense variant	-	NC_000008.11:g.103300264A>G	gnomAD
FZD6	O60353	p.Ile53Ser	rs779056600	missense variant	-	NC_000008.11:g.103300265T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala55Val	rs571735437	missense variant	-	NC_000008.11:g.103300271C>T	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Ala55Thr	rs1298616697	missense variant	-	NC_000008.11:g.103300270G>A	TOPMed
FZD6	O60353	p.His60Tyr	rs780099524	missense variant	-	NC_000008.11:g.103318590C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.His60Asp	rs780099524	missense variant	-	NC_000008.11:g.103318590C>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Phe61Ser	rs146283758	missense variant	-	NC_000008.11:g.103318594T>C	ESP,ExAC,gnomAD
FZD6	O60353	p.Leu62Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103318596C>A	NCI-TCGA
FZD6	O60353	p.Leu64Phe	rs1487776894	missense variant	-	NC_000008.11:g.103318602C>T	gnomAD
FZD6	O60353	p.Leu64Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103318602C>G	NCI-TCGA
FZD6	O60353	p.Ala65Thr	rs375098302	missense variant	-	NC_000008.11:g.103318605G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Asn66His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103318608A>C	NCI-TCGA
FZD6	O60353	p.Pro71Leu	rs762407732	missense variant	-	NC_000008.11:g.103318624C>T	ExAC,gnomAD
FZD6	O60353	p.Ile73Val	rs772568156	missense variant	-	NC_000008.11:g.103318629A>G	ExAC,gnomAD
FZD6	O60353	p.Ile73Phe	rs772568156	missense variant	-	NC_000008.11:g.103318629A>T	ExAC,gnomAD
FZD6	O60353	p.Ile73Thr	rs775914993	missense variant	-	NC_000008.11:g.103318630T>C	ExAC,gnomAD
FZD6	O60353	p.Phe76Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103318638T>C	NCI-TCGA
FZD6	O60353	p.Lys79Glu	rs1357409316	missense variant	-	NC_000008.11:g.103318647A>G	TOPMed
FZD6	O60353	p.Ala80Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103318650G>A	NCI-TCGA
FZD6	O60353	p.Val82Leu	rs1287392567	missense variant	-	NC_000008.11:g.103318656G>C	TOPMed,gnomAD
FZD6	O60353	p.Val82Ala	COSM3884264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103318657T>C	NCI-TCGA Cosmic
FZD6	O60353	p.Cys85Tyr	rs1049206443	missense variant	-	NC_000008.11:g.103318666G>A	TOPMed
FZD6	O60353	p.Ile86Leu	rs776955040	missense variant	-	NC_000008.11:g.103318668A>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ile86Val	rs776955040	missense variant	-	NC_000008.11:g.103318668A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln88Glu	rs761922015	missense variant	-	NC_000008.11:g.103318674C>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln88Pro	rs943636809	missense variant	-	NC_000008.11:g.103318675A>C	TOPMed
FZD6	O60353	p.Val92Leu	rs765509501	missense variant	-	NC_000008.11:g.103318686G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Pro94Ser	rs750564903	missense variant	-	NC_000008.11:g.103318692C>T	ExAC,gnomAD
FZD6	O60353	p.Pro94Leu	rs534988999	missense variant	-	NC_000008.11:g.103318693C>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg96His	rs766434022	missense variant	-	NC_000008.11:g.103318699G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg96Cys	rs981045005	missense variant	-	NC_000008.11:g.103318698C>T	gnomAD
FZD6	O60353	p.Arg96Cys	RCV000593548	missense variant	-	NC_000008.11:g.103318698C>T	ClinVar
FZD6	O60353	p.Lys97Arg	rs1487285963	missense variant	-	NC_000008.11:g.103318702A>G	gnomAD
FZD6	O60353	p.Leu98Phe	rs1267735158	missense variant	-	NC_000008.11:g.103318704C>T	gnomAD
FZD6	O60353	p.Leu98His	rs754842098	missense variant	-	NC_000008.11:g.103318705T>A	ExAC,gnomAD
FZD6	O60353	p.Cys99Arg	rs780825596	missense variant	-	NC_000008.11:g.103318707T>C	ExAC,gnomAD
FZD6	O60353	p.Glu100Ter	rs747924397	stop gained	-	NC_000008.11:g.103318710G>T	ExAC,gnomAD
FZD6	O60353	p.Glu100Gly	rs755791699	missense variant	-	NC_000008.11:g.103318711A>G	ExAC,gnomAD
FZD6	O60353	p.Lys101Arg	rs777335863	missense variant	-	NC_000008.11:g.103318714A>G	ExAC,gnomAD
FZD6	O60353	p.Lys101Asn	rs748806283	missense variant	-	NC_000008.11:g.103318715A>C	ExAC,gnomAD
FZD6	O60353	p.Ser104Phe	rs1415526913	missense variant	-	NC_000008.11:g.103318723C>T	TOPMed
FZD6	O60353	p.Leu109Val	rs770418746	missense variant	-	NC_000008.11:g.103318737T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu109Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.103318738T>A	NCI-TCGA
FZD6	O60353	p.Leu109Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.103318738T>G	NCI-TCGA
FZD6	O60353	p.Ile110Phe	rs776136233	missense variant	-	NC_000008.11:g.103318740A>T	ExAC,gnomAD
FZD6	O60353	p.Asp111Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103318743G>A	NCI-TCGA
FZD6	O60353	p.Thr112Asn	rs952870905	missense variant	-	NC_000008.11:g.103318747C>A	TOPMed,gnomAD
FZD6	O60353	p.Ile115Ser	rs747445291	missense variant	-	NC_000008.11:g.103318756T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg116Ter	RCV000578928	nonsense	-	NC_000008.11:g.103318758C>T	ClinVar
FZD6	O60353	p.Arg116Ter	rs769116796	stop gained	-	NC_000008.11:g.103318758C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg116Gln	rs1466686516	missense variant	-	NC_000008.11:g.103318759G>A	TOPMed
FZD6	O60353	p.Trp117Arg	rs760023367	missense variant	-	NC_000008.11:g.103318761T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Pro118His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103318765C>A	NCI-TCGA
FZD6	O60353	p.Glu120Asp	rs762230921	missense variant	-	NC_000008.11:g.103318772G>T	ExAC,gnomAD
FZD6	O60353	p.Leu121Ile	rs1452349213	missense variant	-	NC_000008.11:g.103318773C>A	TOPMed
FZD6	O60353	p.Glu122Gln	rs1319580028	missense variant	-	NC_000008.11:g.103318776G>C	gnomAD
FZD6	O60353	p.Glu122Ala	rs939650828	missense variant	-	NC_000008.11:g.103318777A>C	TOPMed,gnomAD
FZD6	O60353	p.Asp124Gly	rs765560923	missense variant	-	NC_000008.11:g.103318783A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln127Arg	rs149943553	missense variant	-	NC_000008.11:g.103324486A>G	ESP,TOPMed,gnomAD
FZD6	O60353	p.Tyr128Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324489A>G	NCI-TCGA
FZD6	O60353	p.Cys129Ter	rs371495168	stop gained	-	NC_000008.11:g.103324493T>A	ESP,ExAC,gnomAD
FZD6	O60353	p.Cys129Gly	rs767365157	missense variant	-	NC_000008.11:g.103324491T>G	ExAC,gnomAD
FZD6	O60353	p.Cys129Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324492G>A	NCI-TCGA
FZD6	O60353	p.Asp130Gly	rs1466609347	missense variant	-	NC_000008.11:g.103324495A>G	gnomAD
FZD6	O60353	p.Asp130Glu	rs760533281	missense variant	-	NC_000008.11:g.103324496T>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr132Ala	rs1397980291	missense variant	-	NC_000008.11:g.103324500A>G	TOPMed
FZD6	O60353	p.Val133Ala	rs564497180	missense variant	-	NC_000008.11:g.103324504T>C	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Pro134Ala	rs935109876	missense variant	-	NC_000008.11:g.103324506C>G	gnomAD
FZD6	O60353	p.Phe137Ser	rs377272890	missense variant	-	NC_000008.11:g.103324516T>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Phe137Ter	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103324514_103324515TT>-	NCI-TCGA
FZD6	O60353	p.His140Tyr	rs80216383	missense variant	-	NC_000008.11:g.103324524C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.His140Tyr	rs80216383	missense variant	-	NC_000008.11:g.103324524C>T	UniProt,dbSNP
FZD6	O60353	p.His140Tyr	VAR_066963	missense variant	-	NC_000008.11:g.103324524C>T	UniProt
FZD6	O60353	p.Glu142Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.103324530G>T	NCI-TCGA
FZD6	O60353	p.Pro146Ser	rs778588461	missense variant	-	NC_000008.11:g.103324542C>T	ExAC,gnomAD
FZD6	O60353	p.Pro146Leu	rs749906371	missense variant	-	NC_000008.11:g.103324543C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Lys148Thr	rs1276485475	missense variant	-	NC_000008.11:g.103324549A>C	TOPMed,gnomAD
FZD6	O60353	p.Lys148Glu	rs768203511	missense variant	-	NC_000008.11:g.103324548A>G	ExAC,gnomAD
FZD6	O60353	p.Lys149Ile	rs1438660101	missense variant	-	NC_000008.11:g.103324552A>T	TOPMed
FZD6	O60353	p.Thr150Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324555C>T	NCI-TCGA
FZD6	O60353	p.Glu151Asp	rs781609213	missense variant	-	NC_000008.11:g.103324559A>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu151Val	rs1310126701	missense variant	-	NC_000008.11:g.103324558A>T	TOPMed,gnomAD
FZD6	O60353	p.Gln152Glu	rs61753730	missense variant	-	NC_000008.11:g.103324560C>G	UniProt,dbSNP
FZD6	O60353	p.Gln152Glu	VAR_066964	missense variant	-	NC_000008.11:g.103324560C>G	UniProt
FZD6	O60353	p.Gln152Glu	rs61753730	missense variant	-	NC_000008.11:g.103324560C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val153Ile	rs770330304	missense variant	-	NC_000008.11:g.103324563G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val153Gly	rs1486796562	missense variant	-	NC_000008.11:g.103324564T>G	gnomAD
FZD6	O60353	p.Arg155Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324570G>A	NCI-TCGA
FZD6	O60353	p.Asp156His	rs749629030	missense variant	-	NC_000008.11:g.103324572G>C	ExAC,gnomAD
FZD6	O60353	p.Asp156Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324572G>T	NCI-TCGA
FZD6	O60353	p.Pro162Leu	rs1170004620	missense variant	-	NC_000008.11:g.103324591C>T	gnomAD
FZD6	O60353	p.Pro162Ala	rs771059227	missense variant	-	NC_000008.11:g.103324590C>G	ExAC,gnomAD
FZD6	O60353	p.Arg163Gly	rs1414381279	missense variant	-	NC_000008.11:g.103324593A>G	gnomAD
FZD6	O60353	p.His164Arg	rs774570399	missense variant	-	NC_000008.11:g.103324597A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu165Phe	rs928048347	missense variant	-	NC_000008.11:g.103324599C>T	TOPMed
FZD6	O60353	p.Leu165Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324599C>G	NCI-TCGA
FZD6	O60353	p.Ser168Pro	rs772185760	missense variant	-	NC_000008.11:g.103324608T>C	ExAC
FZD6	O60353	p.Gly169Arg	rs529849844	missense variant	-	NC_000008.11:g.103324611G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly169Arg	rs529849844	missense variant	-	NC_000008.11:g.103324611G>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly170Ala	rs753667894	missense variant	-	NC_000008.11:g.103324615G>C	ExAC,gnomAD
FZD6	O60353	p.Gly170Val	rs753667894	missense variant	-	NC_000008.11:g.103324615G>T	ExAC,gnomAD
FZD6	O60353	p.Gly170Glu	rs753667894	missense variant	-	NC_000008.11:g.103324615G>A	ExAC,gnomAD
FZD6	O60353	p.Gln171Arg	rs376449974	missense variant	-	NC_000008.11:g.103324618A>G	ESP
FZD6	O60353	p.Tyr173Cys	rs548106295	missense variant	-	NC_000008.11:g.103324624A>G	1000Genomes,TOPMed,gnomAD
FZD6	O60353	p.Lys174Glu	rs764810706	missense variant	-	NC_000008.11:g.103324626A>G	ExAC,gnomAD
FZD6	O60353	p.Leu176Arg	rs750079022	missense variant	-	NC_000008.11:g.103324633T>G	ExAC,gnomAD
FZD6	O60353	p.Gly177Arg	rs1219701399	missense variant	-	NC_000008.11:g.103324635G>A	gnomAD
FZD6	O60353	p.Asp179Asn	rs142125344	missense variant	-	NC_000008.11:g.103324641G>A	ESP
FZD6	O60353	p.Gln180Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324645A>T	NCI-TCGA
FZD6	O60353	p.Cys181Ser	rs757914216	missense variant	-	NC_000008.11:g.103324647T>A	ExAC,gnomAD
FZD6	O60353	p.Ala182Val	rs751062369	missense variant	-	NC_000008.11:g.103324651C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala182Thr	rs147788385	missense variant	-	NC_000008.11:g.103324650G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Asn187Ser	rs778357612	missense variant	-	NC_000008.11:g.103324666A>G	ExAC,gnomAD
FZD6	O60353	p.Met188Thr	rs931241044	missense variant	-	NC_000008.11:g.103324669T>C	TOPMed
FZD6	O60353	p.Met188Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324670G>A	NCI-TCGA
FZD6	O60353	p.Phe190Leu	rs749679944	missense variant	-	NC_000008.11:g.103324676T>A	ExAC,gnomAD
FZD6	O60353	p.Asp193His	rs771311097	missense variant	-	NC_000008.11:g.103324683G>C	ExAC,gnomAD
FZD6	O60353	p.Asp193Val	rs779068115	missense variant	-	NC_000008.11:g.103324684A>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu195Pro	rs1210328421	missense variant	-	NC_000008.11:g.103324690T>C	gnomAD
FZD6	O60353	p.Glu196Gly	rs1396374934	missense variant	-	NC_000008.11:g.103324693A>G	gnomAD
FZD6	O60353	p.Phe197Ser	rs746074508	missense variant	-	NC_000008.11:g.103324696T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ile202Ser	rs775573797	missense variant	-	NC_000008.11:g.103324711T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ile202Thr	rs775573797	missense variant	-	NC_000008.11:g.103324711T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly203Arg	rs1048279178	missense variant	-	NC_000008.11:g.103324713G>A	TOPMed
FZD6	O60353	p.Gly203Arg	rs1048279178	missense variant	-	NC_000008.11:g.103324713G>C	TOPMed
FZD6	O60353	p.Ile207Met	rs776494531	missense variant	-	NC_000008.11:g.103324727A>G	ExAC,gnomAD
FZD6	O60353	p.Ile207Val	rs146924761	missense variant	-	NC_000008.11:g.103324725A>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Phe208Cys	rs1330234377	missense variant	-	NC_000008.11:g.103324729T>G	TOPMed,gnomAD
FZD6	O60353	p.Phe208Ser	rs1330234377	missense variant	-	NC_000008.11:g.103324729T>C	TOPMed,gnomAD
FZD6	O60353	p.Phe208Tyr	rs1330234377	missense variant	-	NC_000008.11:g.103324729T>A	TOPMed,gnomAD
FZD6	O60353	p.Leu210Phe	rs1437126989	missense variant	-	NC_000008.11:g.103324734C>T	gnomAD
FZD6	O60353	p.Leu210Pro	rs1279554917	missense variant	-	NC_000008.11:g.103324735T>C	TOPMed
FZD6	O60353	p.Ala212Glu	rs1352592850	missense variant	-	NC_000008.11:g.103324741C>A	TOPMed
FZD6	O60353	p.Thr216Ala	rs1237966129	missense variant	-	NC_000008.11:g.103324752A>G	TOPMed
FZD6	O60353	p.Phe217Cys	rs765077597	missense variant	-	NC_000008.11:g.103324756T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr219Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324761A>C	NCI-TCGA
FZD6	O60353	p.Leu221Ter	rs893947591	stop gained	-	NC_000008.11:g.103324768T>A	TOPMed
FZD6	O60353	p.Ile222Val	rs1351700529	missense variant	-	NC_000008.11:g.103324770A>G	gnomAD
FZD6	O60353	p.Asp223Tyr	COSM1094459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324773G>T	NCI-TCGA Cosmic
FZD6	O60353	p.Arg225Lys	COSM289073	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324780G>A	NCI-TCGA Cosmic
FZD6	O60353	p.Arg225Thr	COSM3778794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324780G>C	NCI-TCGA Cosmic
FZD6	O60353	p.Arg228Thr	COSM4819085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324789G>C	NCI-TCGA Cosmic
FZD6	O60353	p.Arg228Lys	COSM3778795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324789G>A	NCI-TCGA Cosmic
FZD6	O60353	p.Pro230LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103324794_103324795insTTGGA	NCI-TCGA
FZD6	O60353	p.Ile234LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103324806_103324807insAATCCAATGTCTCT	NCI-TCGA
FZD6	O60353	p.Ile235Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324811A>G	NCI-TCGA
FZD6	O60353	p.Tyr236Cys	rs751119249	missense variant	-	NC_000008.11:g.103324813A>G	ExAC
FZD6	O60353	p.Tyr236His	rs372850452	missense variant	-	NC_000008.11:g.103324812T>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Tyr237Cys	rs754477513	missense variant	-	NC_000008.11:g.103324816A>G	ExAC,TOPMed
FZD6	O60353	p.Ser242Asn	rs1194639978	missense variant	-	NC_000008.11:g.103324831G>A	gnomAD
FZD6	O60353	p.Ile243Thr	rs1255516559	missense variant	-	NC_000008.11:g.103324834T>C	gnomAD
FZD6	O60353	p.Val244Ala	rs1453378750	missense variant	-	NC_000008.11:g.103324837T>C	TOPMed
FZD6	O60353	p.Ser245Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324840C>G	NCI-TCGA
FZD6	O60353	p.Leu246Phe	rs764751010	missense variant	-	NC_000008.11:g.103324842C>T	ExAC,gnomAD
FZD6	O60353	p.Leu246Val	rs764751010	missense variant	-	NC_000008.11:g.103324842C>G	ExAC,gnomAD
FZD6	O60353	p.Met247Thr	rs377161583	missense variant	-	NC_000008.11:g.103324846T>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Phe249Leu	rs757599522	missense variant	-	NC_000008.11:g.103324851T>C	ExAC,gnomAD
FZD6	O60353	p.Ile250Thr	rs1470963015	missense variant	-	NC_000008.11:g.103324855T>C	gnomAD
FZD6	O60353	p.Ile250Met	rs1161041099	missense variant	-	NC_000008.11:g.103324856T>G	gnomAD
FZD6	O60353	p.Gly251Arg	rs1389553987	missense variant	-	NC_000008.11:g.103324857G>A	gnomAD
FZD6	O60353	p.Phe252Tyr	rs1176717343	missense variant	-	NC_000008.11:g.103324861T>A	gnomAD
FZD6	O60353	p.Leu253Phe	rs1327634438	missense variant	-	NC_000008.11:g.103324865G>T	gnomAD
FZD6	O60353	p.Gly255Ser	rs1445893196	missense variant	-	NC_000008.11:g.103324869G>A	gnomAD
FZD6	O60353	p.Asp256Asn	rs201820118	missense variant	-	NC_000008.11:g.103324872G>A	ExAC,gnomAD
FZD6	O60353	p.Ser257Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324876G>T	NCI-TCGA
FZD6	O60353	p.Ser257Gly	rs1241465064	missense variant	-	NC_000008.11:g.103324875A>G	gnomAD
FZD6	O60353	p.Ala259Thr	rs1178027003	missense variant	-	NC_000008.11:g.103324881G>A	gnomAD
FZD6	O60353	p.Ala259Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324882C>T	NCI-TCGA
FZD6	O60353	p.Ala259Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324881G>T	NCI-TCGA
FZD6	O60353	p.Asn261Ser	rs780187587	missense variant	-	NC_000008.11:g.103324888A>G	ExAC,gnomAD
FZD6	O60353	p.Lys262Arg	rs1214749440	missense variant	-	NC_000008.11:g.103324891A>G	gnomAD
FZD6	O60353	p.Lys262Ter	rs1355903108	stop gained	-	NC_000008.11:g.103324890A>T	gnomAD
FZD6	O60353	p.Glu265Lys	rs1193820321	missense variant	-	NC_000008.11:g.103324899G>A	TOPMed
FZD6	O60353	p.Glu265Asp	COSM453773	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103324901G>C	NCI-TCGA Cosmic
FZD6	O60353	p.Glu265Asp	rs1448517780	missense variant	-	NC_000008.11:g.103324901G>T	TOPMed
FZD6	O60353	p.Lys266Met	rs1281963730	missense variant	-	NC_000008.11:g.103324903A>T	TOPMed
FZD6	O60353	p.Leu269Arg	rs747106870	missense variant	-	NC_000008.11:g.103324912T>G	ExAC,gnomAD
FZD6	O60353	p.Thr272Ala	rs1204165688	missense variant	-	NC_000008.11:g.103324920A>G	TOPMed
FZD6	O60353	p.Val274Leu	rs776618074	missense variant	-	NC_000008.11:g.103324926G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser277Cys	rs370601506	missense variant	-	NC_000008.11:g.103324936C>G	ESP,ExAC,gnomAD
FZD6	O60353	p.Ala281Ser	rs375091015	missense variant	-	NC_000008.11:g.103324947G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Cys282Tyr	rs762587938	missense variant	-	NC_000008.11:g.103324951G>A	ExAC,gnomAD
FZD6	O60353	p.Thr283Ser	rs766142758	missense variant	-	NC_000008.11:g.103324953A>T	ExAC,gnomAD
FZD6	O60353	p.Thr283Ala	rs766142758	missense variant	-	NC_000008.11:g.103324953A>G	ExAC,gnomAD
FZD6	O60353	p.Val284Ile	rs141253426	missense variant	-	NC_000008.11:g.103324956G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met287Thr	rs1398525123	missense variant	-	NC_000008.11:g.103324966T>C	gnomAD
FZD6	O60353	p.Tyr290Cys	RCV000170581	missense variant	Non-immune hydrops fetalis (NIHF)	NC_000008.11:g.103324975A>G	ClinVar
FZD6	O60353	p.Tyr290Cys	rs786205672	missense variant	-	NC_000008.11:g.103324975A>G	-
FZD6	O60353	p.Phe292SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103324976T>-	NCI-TCGA
FZD6	O60353	p.Thr293Ile	rs759181459	missense variant	-	NC_000008.11:g.103324984C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr293HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103324975_103324976insT	NCI-TCGA
FZD6	O60353	p.Met294Leu	rs767102317	missense variant	-	NC_000008.11:g.103324986A>T	ExAC,gnomAD
FZD6	O60353	p.Met294Thr	rs1234072800	missense variant	-	NC_000008.11:g.103324987T>C	gnomAD
FZD6	O60353	p.Met294Ile	rs1357610731	missense variant	-	NC_000008.11:g.103324988G>T	gnomAD
FZD6	O60353	p.Met294Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103324986A>C	NCI-TCGA
FZD6	O60353	p.Ala295Val	rs1316728046	missense variant	-	NC_000008.11:g.103324990C>T	TOPMed
FZD6	O60353	p.Gly296Ser	rs1295529759	missense variant	-	NC_000008.11:g.103324992G>A	gnomAD
FZD6	O60353	p.Trp299Ter	rs754354607	stop gained	-	NC_000008.11:g.103325002G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp299Ser	rs754354607	missense variant	-	NC_000008.11:g.103325002G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp299Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325002G>T	NCI-TCGA
FZD6	O60353	p.Trp300Ter	rs1218401052	stop gained	-	NC_000008.11:g.103325006G>A	gnomAD
FZD6	O60353	p.Leu303Pro	rs1469541628	missense variant	-	NC_000008.11:g.103325014T>C	gnomAD
FZD6	O60353	p.Thr304Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325017C>T	NCI-TCGA
FZD6	O60353	p.Leu309Ser	rs1254810955	missense variant	-	NC_000008.11:g.103325032T>C	gnomAD
FZD6	O60353	p.Ala311Thr	rs1459882979	missense variant	-	NC_000008.11:g.103325037G>A	TOPMed
FZD6	O60353	p.Gly312Arg	rs758705643	missense variant	-	NC_000008.11:g.103325040G>A	ExAC,gnomAD
FZD6	O60353	p.Gly312Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325041G>T	NCI-TCGA
FZD6	O60353	p.Arg313Lys	rs1168415461	missense variant	-	NC_000008.11:g.103325044G>A	TOPMed
FZD6	O60353	p.Arg313Ile	COSM1094462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325044G>T	NCI-TCGA Cosmic
FZD6	O60353	p.Arg313Gly	rs1413255088	missense variant	-	NC_000008.11:g.103325043A>G	TOPMed
FZD6	O60353	p.Lys314LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000008.11:g.103325022_103325023insCTTGGTTCTTAGCTGCAGGAAGACTCCAATTCGAATCATAAATTTCTTTAGTTTTT	NCI-TCGA
FZD6	O60353	p.Cys317Tyr	rs138895095	missense variant	-	NC_000008.11:g.103325056G>A	ESP,TOPMed
FZD6	O60353	p.Ala319Thr	rs747229738	missense variant	-	NC_000008.11:g.103325061G>A	ExAC,gnomAD
FZD6	O60353	p.Glu321Lys	rs536022156	missense variant	-	NC_000008.11:g.103325067G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln322Ter	rs748134351	stop gained	-	NC_000008.11:g.103325070C>T	ExAC,gnomAD
FZD6	O60353	p.Ala324Pro	rs1464461855	missense variant	-	NC_000008.11:g.103325076G>C	gnomAD
FZD6	O60353	p.Val325Ala	rs769774212	missense variant	-	NC_000008.11:g.103325080T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val325Glu	rs769774212	missense variant	-	NC_000008.11:g.103325080T>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Phe327Tyr	rs1374882408	missense variant	-	NC_000008.11:g.103325086T>A	gnomAD
FZD6	O60353	p.Ala329Val	rs144742285	missense variant	-	NC_000008.11:g.103325092C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp332Cys	rs770841418	missense variant	-	NC_000008.11:g.103325102G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp332Ter	rs770841418	stop gained	-	NC_000008.11:g.103325102G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr334Ala	rs1399829071	missense variant	-	NC_000008.11:g.103325106A>G	gnomAD
FZD6	O60353	p.Gly336Arg	rs1296713082	missense variant	-	NC_000008.11:g.103325112G>C	gnomAD
FZD6	O60353	p.Phe337Leu	rs1004883584	missense variant	-	NC_000008.11:g.103325117C>G	TOPMed,gnomAD
FZD6	O60353	p.Val340Ile	rs771804340	missense variant	-	NC_000008.11:g.103325124G>A	ExAC,gnomAD
FZD6	O60353	p.Met341Ile	rs1215635668	missense variant	-	NC_000008.11:g.103325129G>T	TOPMed
FZD6	O60353	p.Met341Thr	rs191400696	missense variant	-	NC_000008.11:g.103325128T>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met341Arg	rs191400696	missense variant	-	NC_000008.11:g.103325128T>G	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met345Leu	rs3808553	missense variant	-	NC_000008.11:g.103325139A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met345Thr	rs371618519	missense variant	-	NC_000008.11:g.103325140T>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met345Val	rs3808553	missense variant	-	NC_000008.11:g.103325139A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Lys347Glu	rs763375328	missense variant	-	NC_000008.11:g.103325145A>G	ExAC,gnomAD
FZD6	O60353	p.Val348Ala	rs1263522296	missense variant	-	NC_000008.11:g.103325149T>C	gnomAD
FZD6	O60353	p.Glu349Lys	COSM3833775	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325151G>A	NCI-TCGA Cosmic
FZD6	O60353	p.Gly350Glu	rs766701271	missense variant	-	NC_000008.11:g.103325155G>A	ExAC,gnomAD
FZD6	O60353	p.Gly350Val	rs766701271	missense variant	-	NC_000008.11:g.103325155G>T	ExAC,gnomAD
FZD6	O60353	p.Asp351Val	rs1197995078	missense variant	-	NC_000008.11:g.103325158A>T	gnomAD
FZD6	O60353	p.Asp351His	rs1328172302	missense variant	-	NC_000008.11:g.103325157G>C	TOPMed
FZD6	O60353	p.Asn352Ile	rs1439059082	missense variant	-	NC_000008.11:g.103325161A>T	TOPMed
FZD6	O60353	p.Asn352Ser	rs1439059082	missense variant	-	NC_000008.11:g.103325161A>G	TOPMed
FZD6	O60353	p.Asn352Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325160A>G	NCI-TCGA
FZD6	O60353	p.Cys357Ser	rs751829856	missense variant	-	NC_000008.11:g.103325175T>A	ExAC,gnomAD
FZD6	O60353	p.Gly360Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325184G>A	NCI-TCGA
FZD6	O60353	p.Ser367Phe	rs142793974	missense variant	-	NC_000008.11:g.103325206C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg368Cys	rs374264909	missense variant	-	NC_000008.11:g.103325208C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg368Gly	rs374264909	missense variant	-	NC_000008.11:g.103325208C>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg368His	rs375068426	missense variant	-	NC_000008.11:g.103325209G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg368Leu	rs375068426	missense variant	-	NC_000008.11:g.103325209G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu372Pro	rs756134702	missense variant	-	NC_000008.11:g.103325221T>C	ExAC,gnomAD
FZD6	O60353	p.Leu372Phe	rs1289852576	missense variant	-	NC_000008.11:g.103325220C>T	gnomAD
FZD6	O60353	p.Pro374Ser	rs1385607524	missense variant	-	NC_000008.11:g.103325226C>T	gnomAD
FZD6	O60353	p.Leu377Phe	rs770896684	missense variant	-	NC_000008.11:g.103325235C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu377Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325235C>A	NCI-TCGA
FZD6	O60353	p.Val379Met	rs1283232121	missense variant	-	NC_000008.11:g.103325241G>A	gnomAD
FZD6	O60353	p.Val381Ile	rs374209572	missense variant	-	NC_000008.11:g.103325247G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser384Cys	rs745621688	missense variant	-	NC_000008.11:g.103325257C>G	ExAC,gnomAD
FZD6	O60353	p.Ser384Phe	rs745621688	missense variant	-	NC_000008.11:g.103325257C>T	ExAC,gnomAD
FZD6	O60353	p.Leu385Ile	rs558172378	missense variant	-	NC_000008.11:g.103325259C>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu385SerPheSerTerUnkUnk	COSM1453724	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.103325253_103325254CT>-	NCI-TCGA Cosmic
FZD6	O60353	p.Leu386Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325262C>T	NCI-TCGA
FZD6	O60353	p.Ala388Asp	rs142694816	missense variant	-	NC_000008.11:g.103325269C>A	UniProt,dbSNP
FZD6	O60353	p.Ala388Asp	VAR_066965	missense variant	-	NC_000008.11:g.103325269C>A	UniProt
FZD6	O60353	p.Ala388Asp	rs142694816	missense variant	-	NC_000008.11:g.103325269C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.His395Arg	rs776411650	missense variant	-	NC_000008.11:g.103325290A>G	gnomAD
FZD6	O60353	p.His395Leu	rs776411650	missense variant	-	NC_000008.11:g.103325290A>T	gnomAD
FZD6	O60353	p.Val396Phe	rs1378512583	missense variant	-	NC_000008.11:g.103325292G>T	gnomAD
FZD6	O60353	p.Arg397Gln	rs773811711	missense variant	-	NC_000008.11:g.103325296G>A	ExAC,gnomAD
FZD6	O60353	p.Arg397Ter	rs768048309	stop gained	-	NC_000008.11:g.103325295C>T	ExAC,gnomAD
FZD6	O60353	p.Gln398Arg	rs766830082	missense variant	-	NC_000008.11:g.103325299A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln398His	COSM3778796	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325300A>C	NCI-TCGA Cosmic
FZD6	O60353	p.Val399Ile	rs1205160632	missense variant	-	NC_000008.11:g.103325301G>A	TOPMed
FZD6	O60353	p.Val399Ala	COSM1094464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325302T>C	NCI-TCGA Cosmic
FZD6	O60353	p.Asp403His	rs1325611528	missense variant	-	NC_000008.11:g.103325313G>C	gnomAD
FZD6	O60353	p.Gly404Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325316G>T	NCI-TCGA
FZD6	O60353	p.Arg405Gln	rs150760762	missense variant	-	NC_000008.11:g.103325320G>A	UniProt,dbSNP
FZD6	O60353	p.Arg405Gln	VAR_066966	missense variant	-	NC_000008.11:g.103325320G>A	UniProt
FZD6	O60353	p.Arg405Gln	rs150760762	missense variant	-	NC_000008.11:g.103325320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg405Trp	rs186016315	missense variant	-	NC_000008.11:g.103325319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu408Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325328G>C	NCI-TCGA
FZD6	O60353	p.Lys409AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103325329A>-	NCI-TCGA
FZD6	O60353	p.Lys411Asn	COSM169210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103325339G>T	NCI-TCGA Cosmic
FZD6	O60353	p.Met414Ile	rs1280383857	missense variant	-	NC_000008.11:g.103325348G>T	TOPMed
FZD6	O60353	p.Met414Val	rs1367124305	missense variant	-	NC_000008.11:g.103325346A>G	TOPMed
FZD6	O60353	p.Ile415Val	rs370982279	missense variant	-	NC_000008.11:g.103325349A>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg416Gln	rs763949530	missense variant	-	NC_000008.11:g.103325353G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg416Ter	rs777689471	stop gained	-	NC_000008.11:g.103325352C>T	ExAC,gnomAD
FZD6	O60353	p.Gly418Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325359G>C	NCI-TCGA
FZD6	O60353	p.Val419Asp	rs757294301	missense variant	-	NC_000008.11:g.103325362T>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val419Gly	rs757294301	missense variant	-	NC_000008.11:g.103325362T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly422Ser	rs376142293	missense variant	-	NC_000008.11:g.103325370G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu423Ser	rs1236450328	missense variant	-	NC_000008.11:g.103325374T>C	gnomAD
FZD6	O60353	p.Leu423Phe	rs779823367	missense variant	-	NC_000008.11:g.103325375G>T	ExAC,gnomAD
FZD6	O60353	p.Tyr424Phe	rs746611504	missense variant	-	NC_000008.11:g.103325377A>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Tyr424His	rs1432404440	missense variant	-	NC_000008.11:g.103325376T>C	TOPMed
FZD6	O60353	p.Tyr424Cys	rs746611504	missense variant	-	NC_000008.11:g.103325377A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val426Met	rs1422261267	missense variant	-	NC_000008.11:g.103325382G>A	gnomAD
FZD6	O60353	p.Val426Leu	rs1422261267	missense variant	-	NC_000008.11:g.103325382G>T	gnomAD
FZD6	O60353	p.Thr430Ile	rs952688049	missense variant	-	NC_000008.11:g.103325395C>T	TOPMed
FZD6	O60353	p.Leu431Val	rs1182066631	missense variant	-	NC_000008.11:g.103325397C>G	TOPMed
FZD6	O60353	p.Leu432Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325400C>A	NCI-TCGA
FZD6	O60353	p.Gly433Arg	rs541992719	missense variant	-	NC_000008.11:g.103325403G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Cys434Phe	rs756849567	missense variant	-	NC_000008.11:g.103325407G>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Tyr435Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.103325411C>G	NCI-TCGA
FZD6	O60353	p.Val436Ile	rs759960644	missense variant	-	NC_000008.11:g.103325412G>A	ExAC,gnomAD
FZD6	O60353	p.Glu438Lys	rs1371244150	missense variant	-	NC_000008.11:g.103325418G>A	TOPMed
FZD6	O60353	p.Val440Ala	rs560116992	missense variant	-	NC_000008.11:g.103325425T>C	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Val440Met	rs760826071	missense variant	-	NC_000008.11:g.103325424G>A	ExAC,gnomAD
FZD6	O60353	p.Arg442Trp	rs753974488	missense variant	-	NC_000008.11:g.103325430A>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg442Gly	rs753974488	missense variant	-	NC_000008.11:g.103325430A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp445Ter	rs1336606160	stop gained	-	NC_000008.11:g.103325441G>A	gnomAD
FZD6	O60353	p.Glu446Gly	rs1278481298	missense variant	-	NC_000008.11:g.103325443A>G	gnomAD
FZD6	O60353	p.Ile447Thr	rs757357454	missense variant	-	NC_000008.11:g.103325446T>C	ExAC,gnomAD
FZD6	O60353	p.Val450Ala	rs1319324841	missense variant	-	NC_000008.11:g.103325455T>C	gnomAD
FZD6	O60353	p.Val450Phe	rs527378976	missense variant	-	NC_000008.11:g.103325454G>T	1000Genomes
FZD6	O60353	p.Asp452Glu	rs1415509621	missense variant	-	NC_000008.11:g.103325462T>A	TOPMed
FZD6	O60353	p.Asp452His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325460G>C	NCI-TCGA
FZD6	O60353	p.His453Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103325463C>T	NCI-TCGA
FZD6	O60353	p.Cys454Phe	rs1272285096	missense variant	-	NC_000008.11:g.103325467G>T	gnomAD
FZD6	O60353	p.Cys454Ter	rs764886770	stop gained	-	NC_000008.11:g.103325468T>A	gnomAD
FZD6	O60353	p.Arg455Cys	rs368015730	missense variant	-	NC_000008.11:g.103325469C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg455His	rs551894404	missense variant	-	NC_000008.11:g.103325470G>A	1000Genomes,TOPMed
FZD6	O60353	p.Gln456Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.103325472C>T	NCI-TCGA
FZD6	O60353	p.Ile459Val	rs963976545	missense variant	-	NC_000008.11:g.103325481A>G	TOPMed
FZD6	O60353	p.Cys461Arg	rs1271758222	missense variant	-	NC_000008.11:g.103325487T>C	gnomAD
FZD6	O60353	p.Pro462Thr	rs1398645999	missense variant	-	NC_000008.11:g.103325490C>A	TOPMed
FZD6	O60353	p.Gln464His	rs779693042	missense variant	-	NC_000008.11:g.103325498G>C	ExAC,gnomAD
FZD6	O60353	p.Gln464Glu	rs1187402604	missense variant	-	NC_000008.11:g.103325496C>G	gnomAD
FZD6	O60353	p.Ala465Gly	rs1286940633	missense variant	-	NC_000008.11:g.103328269C>G	TOPMed
FZD6	O60353	p.Ala467Ser	rs765376606	missense variant	-	NC_000008.11:g.103328274G>T	ExAC,gnomAD
FZD6	O60353	p.Ala469Asp	rs1188744886	missense variant	-	NC_000008.11:g.103328281C>A	gnomAD
FZD6	O60353	p.Arg470Ter	rs750436184	stop gained	-	NC_000008.11:g.103328283C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg470Gln	rs758292286	missense variant	-	NC_000008.11:g.103328284G>A	ExAC,gnomAD
FZD6	O60353	p.Glu472Gln	rs751323317	missense variant	-	NC_000008.11:g.103328289G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu472Gly	rs147565570	missense variant	-	NC_000008.11:g.103328290A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala474Val	rs1432819906	missense variant	-	NC_000008.11:g.103328296C>T	gnomAD
FZD6	O60353	p.Met477Lys	rs768721252	missense variant	-	NC_000008.11:g.103328305T>A	TOPMed
FZD6	O60353	p.Ile478Met	rs777284498	missense variant	-	NC_000008.11:g.103328309A>G	ExAC,gnomAD
FZD6	O60353	p.Tyr480Ter	rs149021436	stop gained	-	NC_000008.11:g.103328315C>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu481Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103328317T>C	NCI-TCGA
FZD6	O60353	p.Ile485Ser	rs376124026	missense variant	-	NC_000008.11:g.103328329T>G	ESP,ExAC,gnomAD
FZD6	O60353	p.Ile485Val	COSM1132886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328328A>G	NCI-TCGA Cosmic
FZD6	O60353	p.Val486Phe	rs780555971	missense variant	-	NC_000008.11:g.103328331G>T	ExAC,gnomAD
FZD6	O60353	p.Val486Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103328331G>A	NCI-TCGA
FZD6	O60353	p.Gly487Ser	COSM1094466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328334G>A	NCI-TCGA Cosmic
FZD6	O60353	p.Ile488Ser	rs747394243	missense variant	-	NC_000008.11:g.103328338T>G	ExAC,gnomAD
FZD6	O60353	p.Ser489Thr	rs769142373	missense variant	-	NC_000008.11:g.103328340T>A	ExAC,gnomAD
FZD6	O60353	p.Trp493Cys	rs773197811	missense variant	-	NC_000008.11:g.103328354G>T	ExAC,gnomAD
FZD6	O60353	p.Trp493Leu	rs770093420	missense variant	-	NC_000008.11:g.103328353G>T	ExAC,gnomAD
FZD6	O60353	p.Val494Ile	COSM5873647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328355G>A	NCI-TCGA Cosmic
FZD6	O60353	p.Gly495Ter	COSM748992	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.103328358G>T	NCI-TCGA Cosmic
FZD6	O60353	p.Ser496Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103328362G>C	NCI-TCGA
FZD6	O60353	p.Lys498Gln	rs1468284989	missense variant	-	NC_000008.11:g.103328367A>C	TOPMed,gnomAD
FZD6	O60353	p.Lys498Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103328369G>T	NCI-TCGA
FZD6	O60353	p.Ala504Thr	rs1414701442	missense variant	-	NC_000008.11:g.103328385G>A	TOPMed,gnomAD
FZD6	O60353	p.Phe506Val	COSM453774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328391T>G	NCI-TCGA Cosmic
FZD6	O60353	p.Phe506Cys	COSM1094467	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103328392T>G	NCI-TCGA Cosmic
FZD6	O60353	p.Phe507LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103328391T>-	NCI-TCGA
FZD6	O60353	p.Lys508Ter	rs1385205122	stop gained	-	NC_000008.11:g.103328397A>T	gnomAD
FZD6	O60353	p.Arg509Ter	rs766284226	stop gained	-	NC_000008.11:g.103328400C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg509Gly	rs766284226	missense variant	-	NC_000008.11:g.103328400C>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg509Gln	rs143405641	missense variant	-	NC_000008.11:g.103328401G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Asn510Thr	rs1393674469	missense variant	-	NC_000008.11:g.103328404A>C	gnomAD
FZD6	O60353	p.Arg511His	rs767273753	missense variant	-	NC_000008.11:g.103328407G>A	UniProt,dbSNP
FZD6	O60353	p.Arg511His	VAR_066967	missense variant	-	NC_000008.11:g.103328407G>A	UniProt
FZD6	O60353	p.Arg511His	rs767273753	missense variant	-	NC_000008.11:g.103328407G>A	ExAC,gnomAD
FZD6	O60353	p.Arg511Cys	rs151339003	missense variant	Nail disorder, nonsyndromic congenital, 10 (ndnc10)	NC_000008.11:g.103328406C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg511Cys	rs151339003	missense variant	Nail disorder, non-syndromic congenital, 10 (NDNC10)	NC_000008.11:g.103328406C>T	UniProt,dbSNP
FZD6	O60353	p.Arg511Cys	VAR_066398	missense variant	Nail disorder, non-syndromic congenital, 10 (NDNC10)	NC_000008.11:g.103328406C>T	UniProt
FZD6	O60353	p.Arg511Cys	RCV000023301	missense variant	Nail disorder, nonsyndromic congenital, 10 (NDNC10)	NC_000008.11:g.103328406C>T	ClinVar
FZD6	O60353	p.Arg511Cys	RCV000077801	missense variant	Nail disease	NC_000008.11:g.103328406C>T	ClinVar
FZD6	O60353	p.Lys512Asn	rs1236956669	missense variant	-	NC_000008.11:g.103328411G>C	gnomAD
FZD6	O60353	p.Asp514Gly	rs761539526	missense variant	-	NC_000008.11:g.103328416A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Pro515Leu	rs1291827455	missense variant	-	NC_000008.11:g.103329657C>T	gnomAD
FZD6	O60353	p.Ile516Val	rs1032747700	missense variant	-	NC_000008.11:g.103329659A>G	TOPMed
FZD6	O60353	p.Ser517Cys	rs1271354824	missense variant	-	NC_000008.11:g.103329662A>T	TOPMed
FZD6	O60353	p.Ser519Thr	rs759490885	missense variant	-	NC_000008.11:g.103329669G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg520Pro	rs367925897	missense variant	-	NC_000008.11:g.103329672G>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg520Leu	rs367925897	missense variant	-	NC_000008.11:g.103329672G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg520Ter	rs151317643	stop gained	-	NC_000008.11:g.103329671C>T	ESP,ExAC,gnomAD
FZD6	O60353	p.Arg520Gln	rs367925897	missense variant	-	NC_000008.11:g.103329672G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val522Leu	rs140569835	missense variant	-	NC_000008.11:g.103329677G>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln524Arg	rs1439202689	missense variant	-	NC_000008.11:g.103329684A>G	gnomAD
FZD6	O60353	p.Glu525Gln	rs753526077	missense variant	-	NC_000008.11:g.103329686G>C	ExAC,gnomAD
FZD6	O60353	p.Cys527Arg	rs756757913	missense variant	-	NC_000008.11:g.103329692T>C	ExAC,gnomAD
FZD6	O60353	p.Cys527Trp	rs1475451914	missense variant	-	NC_000008.11:g.103329694T>G	gnomAD
FZD6	O60353	p.Glu528Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103329696A>G	NCI-TCGA
FZD6	O60353	p.Lys532Asn	rs1166790169	missense variant	-	NC_000008.11:g.103329709G>T	TOPMed,gnomAD
FZD6	O60353	p.Asn534His	rs764786532	missense variant	-	NC_000008.11:g.103329713A>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Lys536Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103329719A>G	NCI-TCGA
FZD6	O60353	p.His543Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103329740C>T	NCI-TCGA
FZD6	O60353	p.Tyr544Cys	rs554970152	missense variant	-	NC_000008.11:g.103329744A>G	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser547Gly	rs1021765095	missense variant	-	NC_000008.11:g.103329752A>G	TOPMed
FZD6	O60353	p.Ser547Asn	rs1431877722	missense variant	-	NC_000008.11:g.103329753G>A	gnomAD
FZD6	O60353	p.His549Tyr	rs375398057	missense variant	-	NC_000008.11:g.103329758C>T	ESP,ExAC,gnomAD
FZD6	O60353	p.Lys550Gln	rs1415822378	missense variant	-	NC_000008.11:g.103329761A>C	gnomAD
FZD6	O60353	p.Lys552Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103329769G>T	NCI-TCGA
FZD6	O60353	p.Val553Ala	rs748578409	missense variant	-	NC_000008.11:g.103329771T>C	ExAC,gnomAD
FZD6	O60353	p.Val553Asp	rs748578409	missense variant	-	NC_000008.11:g.103329771T>A	ExAC,gnomAD
FZD6	O60353	p.Ile554Thr	rs1325234560	missense variant	-	NC_000008.11:g.103329774T>C	gnomAD
FZD6	O60353	p.Ser555Cys	rs756540473	missense variant	-	NC_000008.11:g.103329777C>G	ExAC,gnomAD
FZD6	O60353	p.Ser557Phe	rs145774645	missense variant	-	NC_000008.11:g.103329783C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met558Leu	rs1208095664	missense variant	-	NC_000008.11:g.103329785A>T	TOPMed,gnomAD
FZD6	O60353	p.Met558Val	rs1208095664	missense variant	-	NC_000008.11:g.103329785A>G	TOPMed,gnomAD
FZD6	O60353	p.Ser561Asn	rs1279212971	missense variant	-	NC_000008.11:g.103329795G>A	TOPMed,gnomAD
FZD6	O60353	p.Ala566Glu	rs749500056	missense variant	-	NC_000008.11:g.103329810C>A	ExAC,gnomAD
FZD6	O60353	p.His568Pro	rs1160809849	missense variant	-	NC_000008.11:g.103329816A>C	gnomAD
FZD6	O60353	p.His568Arg	rs1160809849	missense variant	-	NC_000008.11:g.103329816A>G	gnomAD
FZD6	O60353	p.Gly569Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103329819G>A	NCI-TCGA
FZD6	O60353	p.Ala572Thr	rs1259349680	missense variant	-	NC_000008.11:g.103329827G>A	gnomAD
FZD6	O60353	p.Ile575Val	rs745879785	missense variant	-	NC_000008.11:g.103329836A>G	ExAC,gnomAD
FZD6	O60353	p.Thr576Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103329839A>G	NCI-TCGA
FZD6	O60353	p.His578Arg	rs775395889	missense variant	-	NC_000008.11:g.103329846A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly582Glu	rs760532855	missense variant	-	NC_000008.11:g.103329858G>A	ExAC,gnomAD
FZD6	O60353	p.Gln583Arg	rs776196559	missense variant	-	NC_000008.11:g.103329861A>G	ExAC,gnomAD
FZD6	O60353	p.Glu584Ter	RCV000077802	nonsense	Nail disease	NC_000008.11:g.103329863G>T	ClinVar
FZD6	O60353	p.Glu584Lys	rs151339002	missense variant	Nail disorder, nonsyndromic congenital, 10 (ndnc10)	NC_000008.11:g.103329863G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu584Ter	rs151339002	stop gained	Nail disorder, nonsyndromic congenital, 10 (ndnc10)	NC_000008.11:g.103329863G>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu584Ter	RCV000023300	nonsense	Nail disorder, nonsyndromic congenital, 10 (NDNC10)	NC_000008.11:g.103329863G>T	ClinVar
FZD6	O60353	p.Thr585Ala	rs1339133281	missense variant	-	NC_000008.11:g.103329866A>G	TOPMed
FZD6	O60353	p.Leu586Ser	rs764759728	missense variant	-	NC_000008.11:g.103329870T>C	ExAC,gnomAD
FZD6	O60353	p.Glu588Lys	rs1231505920	missense variant	-	NC_000008.11:g.103329875G>A	TOPMed,gnomAD
FZD6	O60353	p.Glu588Ter	rs1231505920	stop gained	-	NC_000008.11:g.103329875G>T	TOPMed,gnomAD
FZD6	O60353	p.Gln590Ter	rs1359184533	stop gained	-	NC_000008.11:g.103329881C>T	TOPMed,gnomAD
FZD6	O60353	p.Thr591Asn	rs1347605213	missense variant	-	NC_000008.11:g.103329885C>A	TOPMed
FZD6	O60353	p.Glu594Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103329893G>C	NCI-TCGA
FZD6	O60353	p.Thr595Ile	rs963229485	missense variant	-	NC_000008.11:g.103329897C>T	gnomAD
FZD6	O60353	p.Met597Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103329904G>A	NCI-TCGA
FZD6	O60353	p.Arg598Ter	rs1485454569	stop gained	-	NC_000008.11:g.103329905A>T	gnomAD
FZD6	O60353	p.Arg598Ter	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103329904_103329910GAGAGAG>-	NCI-TCGA
FZD6	O60353	p.Glu599Lys	rs1355142337	missense variant	-	NC_000008.11:g.103329908G>A	TOPMed
FZD6	O60353	p.Glu599Asp	rs758708176	missense variant	-	NC_000008.11:g.103329910G>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val600Met	rs1381945857	missense variant	-	NC_000008.11:g.103329911G>A	TOPMed,gnomAD
FZD6	O60353	p.Val600Leu	rs1381945857	missense variant	-	NC_000008.11:g.103329911G>T	TOPMed,gnomAD
FZD6	O60353	p.Ala602Val	rs556352002	missense variant	-	NC_000008.11:g.103329918C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly604Arg	rs79408516	missense variant	-	NC_000008.11:g.103329923G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr607Ala	rs749576044	missense variant	-	NC_000008.11:g.103329932A>G	ExAC,gnomAD
FZD6	O60353	p.Thr607Asn	rs757505339	missense variant	-	NC_000008.11:g.103329933C>A	ExAC,gnomAD
FZD6	O60353	p.Arg609Lys	rs143153183	missense variant	-	NC_000008.11:g.103329939G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg609Ser	rs1040321851	missense variant	-	NC_000008.11:g.103329940G>T	TOPMed,gnomAD
FZD6	O60353	p.Arg609Ser	rs1040321851	missense variant	-	NC_000008.11:g.103329940G>C	TOPMed,gnomAD
FZD6	O60353	p.Arg609GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103329933C>-	NCI-TCGA
FZD6	O60353	p.Arg611Ser	rs1324637196	missense variant	-	NC_000008.11:g.103329946A>T	gnomAD
FZD6	O60353	p.Asp614Asn	rs746927610	missense variant	-	NC_000008.11:g.103329953G>A	ExAC,gnomAD
FZD6	O60353	p.Asp614His	rs746927610	missense variant	-	NC_000008.11:g.103329953G>C	ExAC,gnomAD
FZD6	O60353	p.Cys615Ser	rs1444393939	missense variant	-	NC_000008.11:g.103329957G>C	gnomAD
FZD6	O60353	p.Cys615Ser	rs377263981	missense variant	-	NC_000008.11:g.103329956T>A	ESP,ExAC,gnomAD
FZD6	O60353	p.Pro618Arg	rs138824850	missense variant	-	NC_000008.11:g.103329966C>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Pro618Leu	rs138824850	missense variant	-	NC_000008.11:g.103329966C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala619Val	rs903082125	missense variant	-	NC_000008.11:g.103329969C>T	TOPMed
FZD6	O60353	p.Ser620Thr	rs116195528	missense variant	-	NC_000008.11:g.103329971T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser620Leu	rs762588534	missense variant	-	NC_000008.11:g.103329972C>T	ExAC,gnomAD
FZD6	O60353	p.Ala622Gly	rs751060280	missense variant	-	NC_000008.11:g.103329978C>G	ExAC,gnomAD
FZD6	O60353	p.Ala622Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103329978C>T	NCI-TCGA
FZD6	O60353	p.Ala623Val	rs144179120	missense variant	-	NC_000008.11:g.103329981C>T	ESP,ExAC,gnomAD
FZD6	O60353	p.Ile625Val	rs1192966381	missense variant	-	NC_000008.11:g.103329986A>G	gnomAD
FZD6	O60353	p.Ser626Cys	COSM1453727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103329990C>G	NCI-TCGA Cosmic
FZD6	O60353	p.Ser629Ala	rs754241636	missense variant	-	NC_000008.11:g.103329998T>G	ExAC,gnomAD
FZD6	O60353	p.Ser629Phe	COSM281275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103329999C>T	NCI-TCGA Cosmic
FZD6	O60353	p.Gly630Ala	rs757546452	missense variant	-	NC_000008.11:g.103330002G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly630Val	COSM3884268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103330002G>T	NCI-TCGA Cosmic
FZD6	O60353	p.Glu631Val	rs779174548	missense variant	-	NC_000008.11:g.103330005A>T	ExAC,gnomAD
FZD6	O60353	p.Glu631Lys	COSM275238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103330004G>A	NCI-TCGA Cosmic
FZD6	O60353	p.Glu631Gln	rs1164898443	missense variant	-	NC_000008.11:g.103330004G>C	gnomAD
FZD6	O60353	p.Gln632Ter	rs750613302	stop gained	-	NC_000008.11:g.103330007C>T	ExAC,gnomAD
FZD6	O60353	p.Val633Ile	rs758522857	missense variant	-	NC_000008.11:g.103330010G>A	ExAC,gnomAD
FZD6	O60353	p.Asp634Asn	rs139052958	missense variant	-	NC_000008.11:g.103330013G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Asp634His	rs139052958	missense variant	-	NC_000008.11:g.103330013G>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly635Arg	rs116913901	missense variant	-	NC_000008.11:g.103330016G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala639Thr	rs1175129726	missense variant	-	NC_000008.11:g.103330028G>A	TOPMed
FZD6	O60353	p.Ala639Gly	rs1173573170	missense variant	-	NC_000008.11:g.103330029C>G	gnomAD
FZD6	O60353	p.Ser641Asn	rs769442423	missense variant	-	NC_000008.11:g.103330035G>A	ExAC,gnomAD
FZD6	O60353	p.Glu644Ala	rs1419232323	missense variant	-	NC_000008.11:g.103330044A>C	TOPMed
FZD6	O60353	p.Ser645Arg	rs1456980766	missense variant	-	NC_000008.11:g.103330048T>A	TOPMed
FZD6	O60353	p.Ser645Ile	rs371961225	missense variant	-	NC_000008.11:g.103330047G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser645Gly	rs1323413408	missense variant	-	NC_000008.11:g.103330046A>G	gnomAD
FZD6	O60353	p.Ser645Asn	rs371961225	missense variant	-	NC_000008.11:g.103330047G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala646Gly	rs141288802	missense variant	-	NC_000008.11:g.103330050C>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala646Thr	rs1231211711	missense variant	-	NC_000008.11:g.103330049G>A	TOPMed,gnomAD
FZD6	O60353	p.Ala646Val	rs141288802	missense variant	-	NC_000008.11:g.103330050C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg647Trp	rs201432167	missense variant	-	NC_000008.11:g.103330052C>T	TOPMed,gnomAD
FZD6	O60353	p.Arg647Gln	rs768811178	missense variant	-	NC_000008.11:g.103330053G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser648Arg	rs758912519	missense variant	-	NC_000008.11:g.103330057T>A	ExAC,gnomAD
FZD6	O60353	p.Glu649Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103330059A>G	NCI-TCGA
FZD6	O60353	p.Ser653Thr	rs751676826	missense variant	-	NC_000008.11:g.103331346G>C	ExAC,gnomAD
FZD6	O60353	p.Pro654Ser	rs996103644	missense variant	-	NC_000008.11:g.103331348C>T	gnomAD
FZD6	O60353	p.Asp657Gly	rs558778118	missense variant	-	NC_000008.11:g.103331358A>G	ExAC,gnomAD
FZD6	O60353	p.Ile658Thr	rs748009628	missense variant	-	NC_000008.11:g.103331361T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr661Ile	rs769718856	missense variant	-	NC_000008.11:g.103331370C>T	ExAC,gnomAD
FZD6	O60353	p.Thr661Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103331369A>G	NCI-TCGA
FZD6	O60353	p.Gly662Ser	rs749023962	missense variant	-	NC_000008.11:g.103331372G>A	ExAC,gnomAD
FZD6	O60353	p.Ala664Glu	rs12549394	missense variant	-	NC_000008.11:g.103331379C>A	UniProt,dbSNP
FZD6	O60353	p.Ala664Glu	VAR_047442	missense variant	-	NC_000008.11:g.103331379C>A	UniProt
FZD6	O60353	p.Ala664Glu	rs12549394	missense variant	-	NC_000008.11:g.103331379C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala664Val	rs12549394	missense variant	-	NC_000008.11:g.103331379C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser666Thr	rs749101422	missense variant	-	NC_000008.11:g.103331385G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu669Ser	rs777245445	missense variant	-	NC_000008.11:g.103331394T>C	ExAC,gnomAD
FZD6	O60353	p.Gln670Arg	rs1279797675	missense variant	-	NC_000008.11:g.103331397A>G	gnomAD
FZD6	O60353	p.Val671Ile	rs1376631182	missense variant	-	NC_000008.11:g.103331399G>A	TOPMed
FZD6	O60353	p.Pro672Thr	rs970326057	missense variant	-	NC_000008.11:g.103331402C>A	TOPMed
FZD6	O60353	p.Pro677Thr	rs1418634189	missense variant	-	NC_000008.11:g.103331417C>A	TOPMed
FZD6	O60353	p.Pro677Leu	rs773575339	missense variant	-	NC_000008.11:g.103331418C>T	ExAC,gnomAD
FZD6	O60353	p.Ser678Asn	rs1465708211	missense variant	-	NC_000008.11:g.103331421G>A	gnomAD
FZD6	O60353	p.Ser678Arg	rs763249133	missense variant	-	NC_000008.11:g.103331422C>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser679Gly	rs573163067	missense variant	-	NC_000008.11:g.103331423A>G	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Leu680Phe	rs145137978	missense variant	-	NC_000008.11:g.103331426C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu680Ile	rs145137978	missense variant	-	NC_000008.11:g.103331426C>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Lys681Arg	rs1001359011	missense variant	-	NC_000008.11:g.103331430A>G	TOPMed,gnomAD
FZD6	O60353	p.Gly682Ala	rs1426821574	missense variant	-	NC_000008.11:g.103331433G>C	gnomAD
FZD6	O60353	p.Gly682ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.103331428_103331429insA	NCI-TCGA
FZD6	O60353	p.Ser683Phe	rs767514175	missense variant	-	NC_000008.11:g.103331436C>T	ExAC,gnomAD
FZD6	O60353	p.Thr684ArgTerTyrValPheTerSerLeuLeuHis	NCI-TCGA novel	stop gained	-	NC_000008.11:g.103331440_103331441insAGATAATATGTTTTTTAAAGTCTGCTGCAT	NCI-TCGA
FZD6	O60353	p.Leu687Phe	rs1345737229	missense variant	-	NC_000008.11:g.103331447C>T	gnomAD
FZD6	O60353	p.Val688Ile	rs1437140239	missense variant	-	NC_000008.11:g.103331450G>A	gnomAD
FZD6	O60353	p.His689Arg	COSM3884269	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.103331454A>G	NCI-TCGA Cosmic
FZD6	O60353	p.Pro690Leu	rs1035910686	missense variant	-	NC_000008.11:g.103331457C>T	TOPMed,gnomAD
FZD6	O60353	p.Pro690Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.103331456C>T	NCI-TCGA
FZD6	O60353	p.Gln698Pro	rs1347370815	missense variant	-	NC_000008.11:g.103331481A>C	TOPMed,gnomAD
FZD6	O60353	p.Gln698Ter	rs1275708078	stop gained	-	NC_000008.11:g.103331480C>T	gnomAD
FZD6	O60353	p.Gly700Ser	rs749153508	missense variant	-	NC_000008.11:g.103331486G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly701Val	rs1221924968	missense variant	-	NC_000008.11:g.103331490G>T	gnomAD
FZD6	O60353	p.Gly701Ser	rs1350106717	missense variant	-	NC_000008.11:g.103331489G>A	TOPMed
FZD6	O60353	p.Cys702Tyr	rs757112285	missense variant	-	NC_000008.11:g.103331493G>A	ExAC,gnomAD
FZD6	O60353	p.Ter707Gly	rs778666015	stop lost	-	NC_000008.11:g.103331507T>G	ExAC,gnomAD
FZD6	O60353	p.Ter707Cys	rs771707817	stop lost	-	NC_000008.11:g.103331509A>T	ExAC,gnomAD
FZD6	O60353	p.Glu2Gly	rs1210913676	missense variant	-	NC_000008.11:g.103300112A>G	gnomAD
FZD6	O60353	p.Met3Val	rs748362787	missense variant	-	NC_000008.11:g.103300114A>G	ExAC,gnomAD
FZD6	O60353	p.Met3Ile	rs1210122452	missense variant	-	NC_000008.11:g.103300116G>A	TOPMed
FZD6	O60353	p.Phe4Cys	rs1331820142	missense variant	-	NC_000008.11:g.103300118T>G	TOPMed
FZD6	O60353	p.Phe6Ile	rs1223505061	missense variant	-	NC_000008.11:g.103300123T>A	TOPMed
FZD6	O60353	p.Thr9Met	rs754581593	missense variant	-	NC_000008.11:g.103300133C>T	ExAC,TOPMed
FZD6	O60353	p.Cys10Gly	rs1198557940	missense variant	-	NC_000008.11:g.103300135T>G	gnomAD
FZD6	O60353	p.Ile11Phe	rs770928662	missense variant	-	NC_000008.11:g.103300138A>T	ExAC
FZD6	O60353	p.Pro14Leu	rs1428125576	missense variant	-	NC_000008.11:g.103300148C>T	gnomAD
FZD6	O60353	p.Leu15Ile	rs774093482	missense variant	-	NC_000008.11:g.103300150C>A	ExAC,gnomAD
FZD6	O60353	p.Leu16Val	rs117477069	missense variant	-	NC_000008.11:g.103300153C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser20Asn	rs375688505	missense variant	-	NC_000008.11:g.103300166G>A	ESP,gnomAD
FZD6	O60353	p.Ser20Thr	rs375688505	missense variant	-	NC_000008.11:g.103300166G>C	ESP,gnomAD
FZD6	O60353	p.Ser20Cys	rs372702981	missense variant	-	NC_000008.11:g.103300165A>T	ESP,ExAC,gnomAD
FZD6	O60353	p.Thr23Ile	rs760374585	missense variant	-	NC_000008.11:g.103300175C>T	ExAC,gnomAD
FZD6	O60353	p.Val29Ile	rs150839394	missense variant	-	NC_000008.11:g.103300192G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val29Phe	rs150839394	missense variant	-	NC_000008.11:g.103300192G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg31Ser	rs568034251	missense variant	-	NC_000008.11:g.103300200A>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg31Lys	rs1214604944	missense variant	-	NC_000008.11:g.103300199G>A	TOPMed,gnomAD
FZD6	O60353	p.Cys32Tyr	rs752048729	missense variant	-	NC_000008.11:g.103300202G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Cys32Phe	rs752048729	missense variant	-	NC_000008.11:g.103300202G>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met33Val	rs827528	missense variant	-	NC_000008.11:g.103300204A>G	UniProt,dbSNP
FZD6	O60353	p.Met33Val	VAR_047440	missense variant	-	NC_000008.11:g.103300204A>G	UniProt
FZD6	O60353	p.Met33Val	rs827528	missense variant	-	NC_000008.11:g.103300204A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met33Ile	rs374556380	missense variant	-	NC_000008.11:g.103300206G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met33Leu	rs827528	missense variant	-	NC_000008.11:g.103300204A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Lys34Thr	rs111920622	missense variant	-	NC_000008.11:g.103300208A>C	TOPMed
FZD6	O60353	p.Lys34Gln	rs970993467	missense variant	-	NC_000008.11:g.103300207A>C	TOPMed
FZD6	O60353	p.Ala36Ser	rs1463161138	missense variant	-	NC_000008.11:g.103300213G>T	TOPMed
FZD6	O60353	p.Asn38Ser	rs752962628	missense variant	-	NC_000008.11:g.103300220A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met39Thr	rs1322899571	missense variant	-	NC_000008.11:g.103300223T>C	TOPMed
FZD6	O60353	p.Phe42Ser	rs1292467728	missense variant	-	NC_000008.11:g.103300232T>C	TOPMed
FZD6	O60353	p.Asn44Ser	rs553335677	missense variant	-	NC_000008.11:g.103300238A>G	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Gly47Ser	rs1360566064	missense variant	-	NC_000008.11:g.103300246G>A	gnomAD
FZD6	O60353	p.His48Leu	rs777814122	missense variant	-	NC_000008.11:g.103300250A>T	ExAC,gnomAD
FZD6	O60353	p.Gln51Arg	rs1300823391	missense variant	-	NC_000008.11:g.103300259A>G	gnomAD
FZD6	O60353	p.Ser52Asn	rs757230055	missense variant	-	NC_000008.11:g.103300262G>A	ExAC,gnomAD
FZD6	O60353	p.Ser52Gly	rs753953103	missense variant	-	NC_000008.11:g.103300261A>G	ExAC,gnomAD
FZD6	O60353	p.Ile53Val	rs1348502085	missense variant	-	NC_000008.11:g.103300264A>G	gnomAD
FZD6	O60353	p.Ile53Ser	rs779056600	missense variant	-	NC_000008.11:g.103300265T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala55Val	rs571735437	missense variant	-	NC_000008.11:g.103300271C>T	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Ala55Thr	rs1298616697	missense variant	-	NC_000008.11:g.103300270G>A	TOPMed
FZD6	O60353	p.His60Tyr	rs780099524	missense variant	-	NC_000008.11:g.103318590C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.His60Asp	rs780099524	missense variant	-	NC_000008.11:g.103318590C>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Phe61Ser	rs146283758	missense variant	-	NC_000008.11:g.103318594T>C	ESP,ExAC,gnomAD
FZD6	O60353	p.Leu64Phe	rs1487776894	missense variant	-	NC_000008.11:g.103318602C>T	gnomAD
FZD6	O60353	p.Ala65Thr	rs375098302	missense variant	-	NC_000008.11:g.103318605G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Pro71Leu	rs762407732	missense variant	-	NC_000008.11:g.103318624C>T	ExAC,gnomAD
FZD6	O60353	p.Ile73Val	rs772568156	missense variant	-	NC_000008.11:g.103318629A>G	ExAC,gnomAD
FZD6	O60353	p.Ile73Phe	rs772568156	missense variant	-	NC_000008.11:g.103318629A>T	ExAC,gnomAD
FZD6	O60353	p.Ile73Thr	rs775914993	missense variant	-	NC_000008.11:g.103318630T>C	ExAC,gnomAD
FZD6	O60353	p.Lys79Glu	rs1357409316	missense variant	-	NC_000008.11:g.103318647A>G	TOPMed
FZD6	O60353	p.Val82Leu	rs1287392567	missense variant	-	NC_000008.11:g.103318656G>C	TOPMed,gnomAD
FZD6	O60353	p.Cys85Tyr	rs1049206443	missense variant	-	NC_000008.11:g.103318666G>A	TOPMed
FZD6	O60353	p.Ile86Leu	rs776955040	missense variant	-	NC_000008.11:g.103318668A>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ile86Val	rs776955040	missense variant	-	NC_000008.11:g.103318668A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln88Glu	rs761922015	missense variant	-	NC_000008.11:g.103318674C>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln88Pro	rs943636809	missense variant	-	NC_000008.11:g.103318675A>C	TOPMed
FZD6	O60353	p.Val92Leu	rs765509501	missense variant	-	NC_000008.11:g.103318686G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Pro94Leu	rs534988999	missense variant	-	NC_000008.11:g.103318693C>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Pro94Ser	rs750564903	missense variant	-	NC_000008.11:g.103318692C>T	ExAC,gnomAD
FZD6	O60353	p.Arg96Cys	rs981045005	missense variant	-	NC_000008.11:g.103318698C>T	gnomAD
FZD6	O60353	p.Arg96His	rs766434022	missense variant	-	NC_000008.11:g.103318699G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg96Cys	RCV000593548	missense variant	-	NC_000008.11:g.103318698C>T	ClinVar
FZD6	O60353	p.Lys97Arg	rs1487285963	missense variant	-	NC_000008.11:g.103318702A>G	gnomAD
FZD6	O60353	p.Leu98Phe	rs1267735158	missense variant	-	NC_000008.11:g.103318704C>T	gnomAD
FZD6	O60353	p.Leu98His	rs754842098	missense variant	-	NC_000008.11:g.103318705T>A	ExAC,gnomAD
FZD6	O60353	p.Cys99Arg	rs780825596	missense variant	-	NC_000008.11:g.103318707T>C	ExAC,gnomAD
FZD6	O60353	p.Glu100Ter	rs747924397	stop gained	-	NC_000008.11:g.103318710G>T	ExAC,gnomAD
FZD6	O60353	p.Glu100Gly	rs755791699	missense variant	-	NC_000008.11:g.103318711A>G	ExAC,gnomAD
FZD6	O60353	p.Lys101Arg	rs777335863	missense variant	-	NC_000008.11:g.103318714A>G	ExAC,gnomAD
FZD6	O60353	p.Lys101Asn	rs748806283	missense variant	-	NC_000008.11:g.103318715A>C	ExAC,gnomAD
FZD6	O60353	p.Ser104Phe	rs1415526913	missense variant	-	NC_000008.11:g.103318723C>T	TOPMed
FZD6	O60353	p.Leu109Val	rs770418746	missense variant	-	NC_000008.11:g.103318737T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ile110Phe	rs776136233	missense variant	-	NC_000008.11:g.103318740A>T	ExAC,gnomAD
FZD6	O60353	p.Thr112Asn	rs952870905	missense variant	-	NC_000008.11:g.103318747C>A	TOPMed,gnomAD
FZD6	O60353	p.Ile115Ser	rs747445291	missense variant	-	NC_000008.11:g.103318756T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg116Ter	RCV000578928	nonsense	-	NC_000008.11:g.103318758C>T	ClinVar
FZD6	O60353	p.Arg116Gln	rs1466686516	missense variant	-	NC_000008.11:g.103318759G>A	TOPMed
FZD6	O60353	p.Arg116Ter	rs769116796	stop gained	-	NC_000008.11:g.103318758C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp117Arg	rs760023367	missense variant	-	NC_000008.11:g.103318761T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu120Asp	rs762230921	missense variant	-	NC_000008.11:g.103318772G>T	ExAC,gnomAD
FZD6	O60353	p.Leu121Ile	rs1452349213	missense variant	-	NC_000008.11:g.103318773C>A	TOPMed
FZD6	O60353	p.Glu122Gln	rs1319580028	missense variant	-	NC_000008.11:g.103318776G>C	gnomAD
FZD6	O60353	p.Glu122Ala	rs939650828	missense variant	-	NC_000008.11:g.103318777A>C	TOPMed,gnomAD
FZD6	O60353	p.Asp124Gly	rs765560923	missense variant	-	NC_000008.11:g.103318783A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln127Arg	rs149943553	missense variant	-	NC_000008.11:g.103324486A>G	ESP,TOPMed,gnomAD
FZD6	O60353	p.Cys129Ter	rs371495168	stop gained	-	NC_000008.11:g.103324493T>A	ESP,ExAC,gnomAD
FZD6	O60353	p.Cys129Gly	rs767365157	missense variant	-	NC_000008.11:g.103324491T>G	ExAC,gnomAD
FZD6	O60353	p.Asp130Gly	rs1466609347	missense variant	-	NC_000008.11:g.103324495A>G	gnomAD
FZD6	O60353	p.Asp130Glu	rs760533281	missense variant	-	NC_000008.11:g.103324496T>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr132Ala	rs1397980291	missense variant	-	NC_000008.11:g.103324500A>G	TOPMed
FZD6	O60353	p.Val133Ala	rs564497180	missense variant	-	NC_000008.11:g.103324504T>C	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Pro134Ala	rs935109876	missense variant	-	NC_000008.11:g.103324506C>G	gnomAD
FZD6	O60353	p.Phe137Ser	rs377272890	missense variant	-	NC_000008.11:g.103324516T>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.His140Tyr	rs80216383	missense variant	-	NC_000008.11:g.103324524C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.His140Tyr	rs80216383	missense variant	-	NC_000008.11:g.103324524C>T	UniProt,dbSNP
FZD6	O60353	p.His140Tyr	VAR_066963	missense variant	-	NC_000008.11:g.103324524C>T	UniProt
FZD6	O60353	p.Pro146Ser	rs778588461	missense variant	-	NC_000008.11:g.103324542C>T	ExAC,gnomAD
FZD6	O60353	p.Pro146Leu	rs749906371	missense variant	-	NC_000008.11:g.103324543C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Lys148Thr	rs1276485475	missense variant	-	NC_000008.11:g.103324549A>C	TOPMed,gnomAD
FZD6	O60353	p.Lys148Glu	rs768203511	missense variant	-	NC_000008.11:g.103324548A>G	ExAC,gnomAD
FZD6	O60353	p.Lys149Ile	rs1438660101	missense variant	-	NC_000008.11:g.103324552A>T	TOPMed
FZD6	O60353	p.Glu151Asp	rs781609213	missense variant	-	NC_000008.11:g.103324559A>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu151Val	rs1310126701	missense variant	-	NC_000008.11:g.103324558A>T	TOPMed,gnomAD
FZD6	O60353	p.Gln152Glu	rs61753730	missense variant	-	NC_000008.11:g.103324560C>G	UniProt,dbSNP
FZD6	O60353	p.Gln152Glu	VAR_066964	missense variant	-	NC_000008.11:g.103324560C>G	UniProt
FZD6	O60353	p.Gln152Glu	rs61753730	missense variant	-	NC_000008.11:g.103324560C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val153Ile	rs770330304	missense variant	-	NC_000008.11:g.103324563G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val153Gly	rs1486796562	missense variant	-	NC_000008.11:g.103324564T>G	gnomAD
FZD6	O60353	p.Asp156His	rs749629030	missense variant	-	NC_000008.11:g.103324572G>C	ExAC,gnomAD
FZD6	O60353	p.Pro162Ala	rs771059227	missense variant	-	NC_000008.11:g.103324590C>G	ExAC,gnomAD
FZD6	O60353	p.Pro162Leu	rs1170004620	missense variant	-	NC_000008.11:g.103324591C>T	gnomAD
FZD6	O60353	p.Arg163Gly	rs1414381279	missense variant	-	NC_000008.11:g.103324593A>G	gnomAD
FZD6	O60353	p.His164Arg	rs774570399	missense variant	-	NC_000008.11:g.103324597A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu165Phe	rs928048347	missense variant	-	NC_000008.11:g.103324599C>T	TOPMed
FZD6	O60353	p.Ser168Pro	rs772185760	missense variant	-	NC_000008.11:g.103324608T>C	ExAC
FZD6	O60353	p.Gly169Arg	rs529849844	missense variant	-	NC_000008.11:g.103324611G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly169Arg	rs529849844	missense variant	-	NC_000008.11:g.103324611G>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly170Ala	rs753667894	missense variant	-	NC_000008.11:g.103324615G>C	ExAC,gnomAD
FZD6	O60353	p.Gly170Val	rs753667894	missense variant	-	NC_000008.11:g.103324615G>T	ExAC,gnomAD
FZD6	O60353	p.Gly170Glu	rs753667894	missense variant	-	NC_000008.11:g.103324615G>A	ExAC,gnomAD
FZD6	O60353	p.Gln171Arg	rs376449974	missense variant	-	NC_000008.11:g.103324618A>G	ESP
FZD6	O60353	p.Tyr173Cys	rs548106295	missense variant	-	NC_000008.11:g.103324624A>G	1000Genomes,TOPMed,gnomAD
FZD6	O60353	p.Lys174Glu	rs764810706	missense variant	-	NC_000008.11:g.103324626A>G	ExAC,gnomAD
FZD6	O60353	p.Leu176Arg	rs750079022	missense variant	-	NC_000008.11:g.103324633T>G	ExAC,gnomAD
FZD6	O60353	p.Gly177Arg	rs1219701399	missense variant	-	NC_000008.11:g.103324635G>A	gnomAD
FZD6	O60353	p.Asp179Asn	rs142125344	missense variant	-	NC_000008.11:g.103324641G>A	ESP
FZD6	O60353	p.Cys181Ser	rs757914216	missense variant	-	NC_000008.11:g.103324647T>A	ExAC,gnomAD
FZD6	O60353	p.Ala182Val	rs751062369	missense variant	-	NC_000008.11:g.103324651C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala182Thr	rs147788385	missense variant	-	NC_000008.11:g.103324650G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Asn187Ser	rs778357612	missense variant	-	NC_000008.11:g.103324666A>G	ExAC,gnomAD
FZD6	O60353	p.Met188Thr	rs931241044	missense variant	-	NC_000008.11:g.103324669T>C	TOPMed
FZD6	O60353	p.Phe190Leu	rs749679944	missense variant	-	NC_000008.11:g.103324676T>A	ExAC,gnomAD
FZD6	O60353	p.Asp193His	rs771311097	missense variant	-	NC_000008.11:g.103324683G>C	ExAC,gnomAD
FZD6	O60353	p.Asp193Val	rs779068115	missense variant	-	NC_000008.11:g.103324684A>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu195Pro	rs1210328421	missense variant	-	NC_000008.11:g.103324690T>C	gnomAD
FZD6	O60353	p.Glu196Gly	rs1396374934	missense variant	-	NC_000008.11:g.103324693A>G	gnomAD
FZD6	O60353	p.Phe197Ser	rs746074508	missense variant	-	NC_000008.11:g.103324696T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ile202Thr	rs775573797	missense variant	-	NC_000008.11:g.103324711T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ile202Ser	rs775573797	missense variant	-	NC_000008.11:g.103324711T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly203Arg	rs1048279178	missense variant	-	NC_000008.11:g.103324713G>A	TOPMed
FZD6	O60353	p.Gly203Arg	rs1048279178	missense variant	-	NC_000008.11:g.103324713G>C	TOPMed
FZD6	O60353	p.Ile207Met	rs776494531	missense variant	-	NC_000008.11:g.103324727A>G	ExAC,gnomAD
FZD6	O60353	p.Ile207Val	rs146924761	missense variant	-	NC_000008.11:g.103324725A>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Phe208Cys	rs1330234377	missense variant	-	NC_000008.11:g.103324729T>G	TOPMed,gnomAD
FZD6	O60353	p.Phe208Tyr	rs1330234377	missense variant	-	NC_000008.11:g.103324729T>A	TOPMed,gnomAD
FZD6	O60353	p.Phe208Ser	rs1330234377	missense variant	-	NC_000008.11:g.103324729T>C	TOPMed,gnomAD
FZD6	O60353	p.Leu210Phe	rs1437126989	missense variant	-	NC_000008.11:g.103324734C>T	gnomAD
FZD6	O60353	p.Leu210Pro	rs1279554917	missense variant	-	NC_000008.11:g.103324735T>C	TOPMed
FZD6	O60353	p.Ala212Glu	rs1352592850	missense variant	-	NC_000008.11:g.103324741C>A	TOPMed
FZD6	O60353	p.Thr216Ala	rs1237966129	missense variant	-	NC_000008.11:g.103324752A>G	TOPMed
FZD6	O60353	p.Phe217Cys	rs765077597	missense variant	-	NC_000008.11:g.103324756T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu221Ter	rs893947591	stop gained	-	NC_000008.11:g.103324768T>A	TOPMed
FZD6	O60353	p.Ile222Val	rs1351700529	missense variant	-	NC_000008.11:g.103324770A>G	gnomAD
FZD6	O60353	p.Tyr236Cys	rs751119249	missense variant	-	NC_000008.11:g.103324813A>G	ExAC
FZD6	O60353	p.Tyr236His	rs372850452	missense variant	-	NC_000008.11:g.103324812T>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Tyr237Cys	rs754477513	missense variant	-	NC_000008.11:g.103324816A>G	ExAC,TOPMed
FZD6	O60353	p.Ser242Asn	rs1194639978	missense variant	-	NC_000008.11:g.103324831G>A	gnomAD
FZD6	O60353	p.Ile243Thr	rs1255516559	missense variant	-	NC_000008.11:g.103324834T>C	gnomAD
FZD6	O60353	p.Val244Ala	rs1453378750	missense variant	-	NC_000008.11:g.103324837T>C	TOPMed
FZD6	O60353	p.Leu246Phe	rs764751010	missense variant	-	NC_000008.11:g.103324842C>T	ExAC,gnomAD
FZD6	O60353	p.Leu246Val	rs764751010	missense variant	-	NC_000008.11:g.103324842C>G	ExAC,gnomAD
FZD6	O60353	p.Met247Thr	rs377161583	missense variant	-	NC_000008.11:g.103324846T>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Phe249Leu	rs757599522	missense variant	-	NC_000008.11:g.103324851T>C	ExAC,gnomAD
FZD6	O60353	p.Ile250Thr	rs1470963015	missense variant	-	NC_000008.11:g.103324855T>C	gnomAD
FZD6	O60353	p.Ile250Met	rs1161041099	missense variant	-	NC_000008.11:g.103324856T>G	gnomAD
FZD6	O60353	p.Gly251Arg	rs1389553987	missense variant	-	NC_000008.11:g.103324857G>A	gnomAD
FZD6	O60353	p.Phe252Tyr	rs1176717343	missense variant	-	NC_000008.11:g.103324861T>A	gnomAD
FZD6	O60353	p.Leu253Phe	rs1327634438	missense variant	-	NC_000008.11:g.103324865G>T	gnomAD
FZD6	O60353	p.Gly255Ser	rs1445893196	missense variant	-	NC_000008.11:g.103324869G>A	gnomAD
FZD6	O60353	p.Asp256Asn	rs201820118	missense variant	-	NC_000008.11:g.103324872G>A	ExAC,gnomAD
FZD6	O60353	p.Ser257Gly	rs1241465064	missense variant	-	NC_000008.11:g.103324875A>G	gnomAD
FZD6	O60353	p.Ala259Thr	rs1178027003	missense variant	-	NC_000008.11:g.103324881G>A	gnomAD
FZD6	O60353	p.Asn261Ser	rs780187587	missense variant	-	NC_000008.11:g.103324888A>G	ExAC,gnomAD
FZD6	O60353	p.Lys262Arg	rs1214749440	missense variant	-	NC_000008.11:g.103324891A>G	gnomAD
FZD6	O60353	p.Lys262Ter	rs1355903108	stop gained	-	NC_000008.11:g.103324890A>T	gnomAD
FZD6	O60353	p.Glu265Lys	rs1193820321	missense variant	-	NC_000008.11:g.103324899G>A	TOPMed
FZD6	O60353	p.Glu265Asp	rs1448517780	missense variant	-	NC_000008.11:g.103324901G>T	TOPMed
FZD6	O60353	p.Lys266Met	rs1281963730	missense variant	-	NC_000008.11:g.103324903A>T	TOPMed
FZD6	O60353	p.Leu269Arg	rs747106870	missense variant	-	NC_000008.11:g.103324912T>G	ExAC,gnomAD
FZD6	O60353	p.Thr272Ala	rs1204165688	missense variant	-	NC_000008.11:g.103324920A>G	TOPMed
FZD6	O60353	p.Val274Leu	rs776618074	missense variant	-	NC_000008.11:g.103324926G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser277Cys	rs370601506	missense variant	-	NC_000008.11:g.103324936C>G	ESP,ExAC,gnomAD
FZD6	O60353	p.Ala281Ser	rs375091015	missense variant	-	NC_000008.11:g.103324947G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Cys282Tyr	rs762587938	missense variant	-	NC_000008.11:g.103324951G>A	ExAC,gnomAD
FZD6	O60353	p.Thr283Ser	rs766142758	missense variant	-	NC_000008.11:g.103324953A>T	ExAC,gnomAD
FZD6	O60353	p.Thr283Ala	rs766142758	missense variant	-	NC_000008.11:g.103324953A>G	ExAC,gnomAD
FZD6	O60353	p.Val284Ile	rs141253426	missense variant	-	NC_000008.11:g.103324956G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met287Thr	rs1398525123	missense variant	-	NC_000008.11:g.103324966T>C	gnomAD
FZD6	O60353	p.Tyr290Cys	RCV000170581	missense variant	Non-immune hydrops fetalis (NIHF)	NC_000008.11:g.103324975A>G	ClinVar
FZD6	O60353	p.Tyr290Cys	rs786205672	missense variant	-	NC_000008.11:g.103324975A>G	-
FZD6	O60353	p.Thr293Ile	rs759181459	missense variant	-	NC_000008.11:g.103324984C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met294Leu	rs767102317	missense variant	-	NC_000008.11:g.103324986A>T	ExAC,gnomAD
FZD6	O60353	p.Met294Thr	rs1234072800	missense variant	-	NC_000008.11:g.103324987T>C	gnomAD
FZD6	O60353	p.Met294Ile	rs1357610731	missense variant	-	NC_000008.11:g.103324988G>T	gnomAD
FZD6	O60353	p.Ala295Val	rs1316728046	missense variant	-	NC_000008.11:g.103324990C>T	TOPMed
FZD6	O60353	p.Gly296Ser	rs1295529759	missense variant	-	NC_000008.11:g.103324992G>A	gnomAD
FZD6	O60353	p.Trp299Ser	rs754354607	missense variant	-	NC_000008.11:g.103325002G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp299Ter	rs754354607	stop gained	-	NC_000008.11:g.103325002G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp300Ter	rs1218401052	stop gained	-	NC_000008.11:g.103325006G>A	gnomAD
FZD6	O60353	p.Leu303Pro	rs1469541628	missense variant	-	NC_000008.11:g.103325014T>C	gnomAD
FZD6	O60353	p.Leu309Ser	rs1254810955	missense variant	-	NC_000008.11:g.103325032T>C	gnomAD
FZD6	O60353	p.Ala311Thr	rs1459882979	missense variant	-	NC_000008.11:g.103325037G>A	TOPMed
FZD6	O60353	p.Gly312Arg	rs758705643	missense variant	-	NC_000008.11:g.103325040G>A	ExAC,gnomAD
FZD6	O60353	p.Arg313Lys	rs1168415461	missense variant	-	NC_000008.11:g.103325044G>A	TOPMed
FZD6	O60353	p.Arg313Gly	rs1413255088	missense variant	-	NC_000008.11:g.103325043A>G	TOPMed
FZD6	O60353	p.Cys317Tyr	rs138895095	missense variant	-	NC_000008.11:g.103325056G>A	ESP,TOPMed
FZD6	O60353	p.Ala319Thr	rs747229738	missense variant	-	NC_000008.11:g.103325061G>A	ExAC,gnomAD
FZD6	O60353	p.Glu321Lys	rs536022156	missense variant	-	NC_000008.11:g.103325067G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln322Ter	rs748134351	stop gained	-	NC_000008.11:g.103325070C>T	ExAC,gnomAD
FZD6	O60353	p.Ala324Pro	rs1464461855	missense variant	-	NC_000008.11:g.103325076G>C	gnomAD
FZD6	O60353	p.Val325Ala	rs769774212	missense variant	-	NC_000008.11:g.103325080T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val325Glu	rs769774212	missense variant	-	NC_000008.11:g.103325080T>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Phe327Tyr	rs1374882408	missense variant	-	NC_000008.11:g.103325086T>A	gnomAD
FZD6	O60353	p.Ala329Val	rs144742285	missense variant	-	NC_000008.11:g.103325092C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp332Cys	rs770841418	missense variant	-	NC_000008.11:g.103325102G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp332Ter	rs770841418	stop gained	-	NC_000008.11:g.103325102G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr334Ala	rs1399829071	missense variant	-	NC_000008.11:g.103325106A>G	gnomAD
FZD6	O60353	p.Gly336Arg	rs1296713082	missense variant	-	NC_000008.11:g.103325112G>C	gnomAD
FZD6	O60353	p.Phe337Leu	rs1004883584	missense variant	-	NC_000008.11:g.103325117C>G	TOPMed,gnomAD
FZD6	O60353	p.Val340Ile	rs771804340	missense variant	-	NC_000008.11:g.103325124G>A	ExAC,gnomAD
FZD6	O60353	p.Met341Thr	rs191400696	missense variant	-	NC_000008.11:g.103325128T>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met341Ile	rs1215635668	missense variant	-	NC_000008.11:g.103325129G>T	TOPMed
FZD6	O60353	p.Met341Arg	rs191400696	missense variant	-	NC_000008.11:g.103325128T>G	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met345Leu	rs3808553	missense variant	-	NC_000008.11:g.103325139A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met345Thr	rs371618519	missense variant	-	NC_000008.11:g.103325140T>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met345Val	rs3808553	missense variant	-	NC_000008.11:g.103325139A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Lys347Glu	rs763375328	missense variant	-	NC_000008.11:g.103325145A>G	ExAC,gnomAD
FZD6	O60353	p.Val348Ala	rs1263522296	missense variant	-	NC_000008.11:g.103325149T>C	gnomAD
FZD6	O60353	p.Gly350Glu	rs766701271	missense variant	-	NC_000008.11:g.103325155G>A	ExAC,gnomAD
FZD6	O60353	p.Gly350Val	rs766701271	missense variant	-	NC_000008.11:g.103325155G>T	ExAC,gnomAD
FZD6	O60353	p.Asp351Val	rs1197995078	missense variant	-	NC_000008.11:g.103325158A>T	gnomAD
FZD6	O60353	p.Asp351His	rs1328172302	missense variant	-	NC_000008.11:g.103325157G>C	TOPMed
FZD6	O60353	p.Asn352Ile	rs1439059082	missense variant	-	NC_000008.11:g.103325161A>T	TOPMed
FZD6	O60353	p.Asn352Ser	rs1439059082	missense variant	-	NC_000008.11:g.103325161A>G	TOPMed
FZD6	O60353	p.Cys357Ser	rs751829856	missense variant	-	NC_000008.11:g.103325175T>A	ExAC,gnomAD
FZD6	O60353	p.Ser367Phe	rs142793974	missense variant	-	NC_000008.11:g.103325206C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg368Cys	rs374264909	missense variant	-	NC_000008.11:g.103325208C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg368Gly	rs374264909	missense variant	-	NC_000008.11:g.103325208C>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg368His	rs375068426	missense variant	-	NC_000008.11:g.103325209G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg368Leu	rs375068426	missense variant	-	NC_000008.11:g.103325209G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu372Pro	rs756134702	missense variant	-	NC_000008.11:g.103325221T>C	ExAC,gnomAD
FZD6	O60353	p.Leu372Phe	rs1289852576	missense variant	-	NC_000008.11:g.103325220C>T	gnomAD
FZD6	O60353	p.Pro374Ser	rs1385607524	missense variant	-	NC_000008.11:g.103325226C>T	gnomAD
FZD6	O60353	p.Leu377Phe	rs770896684	missense variant	-	NC_000008.11:g.103325235C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val379Met	rs1283232121	missense variant	-	NC_000008.11:g.103325241G>A	gnomAD
FZD6	O60353	p.Val381Ile	rs374209572	missense variant	-	NC_000008.11:g.103325247G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser384Cys	rs745621688	missense variant	-	NC_000008.11:g.103325257C>G	ExAC,gnomAD
FZD6	O60353	p.Ser384Phe	rs745621688	missense variant	-	NC_000008.11:g.103325257C>T	ExAC,gnomAD
FZD6	O60353	p.Leu385Ile	rs558172378	missense variant	-	NC_000008.11:g.103325259C>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala388Asp	rs142694816	missense variant	-	NC_000008.11:g.103325269C>A	UniProt,dbSNP
FZD6	O60353	p.Ala388Asp	VAR_066965	missense variant	-	NC_000008.11:g.103325269C>A	UniProt
FZD6	O60353	p.Ala388Asp	rs142694816	missense variant	-	NC_000008.11:g.103325269C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.His395Arg	rs776411650	missense variant	-	NC_000008.11:g.103325290A>G	gnomAD
FZD6	O60353	p.His395Leu	rs776411650	missense variant	-	NC_000008.11:g.103325290A>T	gnomAD
FZD6	O60353	p.Val396Phe	rs1378512583	missense variant	-	NC_000008.11:g.103325292G>T	gnomAD
FZD6	O60353	p.Arg397Gln	rs773811711	missense variant	-	NC_000008.11:g.103325296G>A	ExAC,gnomAD
FZD6	O60353	p.Arg397Ter	rs768048309	stop gained	-	NC_000008.11:g.103325295C>T	ExAC,gnomAD
FZD6	O60353	p.Gln398Arg	rs766830082	missense variant	-	NC_000008.11:g.103325299A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val399Ile	rs1205160632	missense variant	-	NC_000008.11:g.103325301G>A	TOPMed
FZD6	O60353	p.Asp403His	rs1325611528	missense variant	-	NC_000008.11:g.103325313G>C	gnomAD
FZD6	O60353	p.Arg405Gln	rs150760762	missense variant	-	NC_000008.11:g.103325320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg405Gln	rs150760762	missense variant	-	NC_000008.11:g.103325320G>A	UniProt,dbSNP
FZD6	O60353	p.Arg405Gln	VAR_066966	missense variant	-	NC_000008.11:g.103325320G>A	UniProt
FZD6	O60353	p.Arg405Trp	rs186016315	missense variant	-	NC_000008.11:g.103325319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met414Val	rs1367124305	missense variant	-	NC_000008.11:g.103325346A>G	TOPMed
FZD6	O60353	p.Met414Ile	rs1280383857	missense variant	-	NC_000008.11:g.103325348G>T	TOPMed
FZD6	O60353	p.Ile415Val	rs370982279	missense variant	-	NC_000008.11:g.103325349A>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg416Gln	rs763949530	missense variant	-	NC_000008.11:g.103325353G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg416Ter	rs777689471	stop gained	-	NC_000008.11:g.103325352C>T	ExAC,gnomAD
FZD6	O60353	p.Val419Gly	rs757294301	missense variant	-	NC_000008.11:g.103325362T>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val419Asp	rs757294301	missense variant	-	NC_000008.11:g.103325362T>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly422Ser	rs376142293	missense variant	-	NC_000008.11:g.103325370G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu423Ser	rs1236450328	missense variant	-	NC_000008.11:g.103325374T>C	gnomAD
FZD6	O60353	p.Leu423Phe	rs779823367	missense variant	-	NC_000008.11:g.103325375G>T	ExAC,gnomAD
FZD6	O60353	p.Tyr424Phe	rs746611504	missense variant	-	NC_000008.11:g.103325377A>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Tyr424His	rs1432404440	missense variant	-	NC_000008.11:g.103325376T>C	TOPMed
FZD6	O60353	p.Tyr424Cys	rs746611504	missense variant	-	NC_000008.11:g.103325377A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val426Leu	rs1422261267	missense variant	-	NC_000008.11:g.103325382G>T	gnomAD
FZD6	O60353	p.Val426Met	rs1422261267	missense variant	-	NC_000008.11:g.103325382G>A	gnomAD
FZD6	O60353	p.Thr430Ile	rs952688049	missense variant	-	NC_000008.11:g.103325395C>T	TOPMed
FZD6	O60353	p.Leu431Val	rs1182066631	missense variant	-	NC_000008.11:g.103325397C>G	TOPMed
FZD6	O60353	p.Gly433Arg	rs541992719	missense variant	-	NC_000008.11:g.103325403G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Cys434Phe	rs756849567	missense variant	-	NC_000008.11:g.103325407G>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Val436Ile	rs759960644	missense variant	-	NC_000008.11:g.103325412G>A	ExAC,gnomAD
FZD6	O60353	p.Glu438Lys	rs1371244150	missense variant	-	NC_000008.11:g.103325418G>A	TOPMed
FZD6	O60353	p.Val440Ala	rs560116992	missense variant	-	NC_000008.11:g.103325425T>C	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Val440Met	rs760826071	missense variant	-	NC_000008.11:g.103325424G>A	ExAC,gnomAD
FZD6	O60353	p.Arg442Trp	rs753974488	missense variant	-	NC_000008.11:g.103325430A>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg442Gly	rs753974488	missense variant	-	NC_000008.11:g.103325430A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Trp445Ter	rs1336606160	stop gained	-	NC_000008.11:g.103325441G>A	gnomAD
FZD6	O60353	p.Glu446Gly	rs1278481298	missense variant	-	NC_000008.11:g.103325443A>G	gnomAD
FZD6	O60353	p.Ile447Thr	rs757357454	missense variant	-	NC_000008.11:g.103325446T>C	ExAC,gnomAD
FZD6	O60353	p.Val450Ala	rs1319324841	missense variant	-	NC_000008.11:g.103325455T>C	gnomAD
FZD6	O60353	p.Val450Phe	rs527378976	missense variant	-	NC_000008.11:g.103325454G>T	1000Genomes
FZD6	O60353	p.Asp452Glu	rs1415509621	missense variant	-	NC_000008.11:g.103325462T>A	TOPMed
FZD6	O60353	p.Cys454Phe	rs1272285096	missense variant	-	NC_000008.11:g.103325467G>T	gnomAD
FZD6	O60353	p.Cys454Ter	rs764886770	stop gained	-	NC_000008.11:g.103325468T>A	gnomAD
FZD6	O60353	p.Arg455Cys	rs368015730	missense variant	-	NC_000008.11:g.103325469C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg455His	rs551894404	missense variant	-	NC_000008.11:g.103325470G>A	1000Genomes,TOPMed
FZD6	O60353	p.Ile459Val	rs963976545	missense variant	-	NC_000008.11:g.103325481A>G	TOPMed
FZD6	O60353	p.Cys461Arg	rs1271758222	missense variant	-	NC_000008.11:g.103325487T>C	gnomAD
FZD6	O60353	p.Pro462Thr	rs1398645999	missense variant	-	NC_000008.11:g.103325490C>A	TOPMed
FZD6	O60353	p.Gln464His	rs779693042	missense variant	-	NC_000008.11:g.103325498G>C	ExAC,gnomAD
FZD6	O60353	p.Gln464Glu	rs1187402604	missense variant	-	NC_000008.11:g.103325496C>G	gnomAD
FZD6	O60353	p.Ala465Gly	rs1286940633	missense variant	-	NC_000008.11:g.103328269C>G	TOPMed
FZD6	O60353	p.Ala467Ser	rs765376606	missense variant	-	NC_000008.11:g.103328274G>T	ExAC,gnomAD
FZD6	O60353	p.Ala469Asp	rs1188744886	missense variant	-	NC_000008.11:g.103328281C>A	gnomAD
FZD6	O60353	p.Arg470Ter	rs750436184	stop gained	-	NC_000008.11:g.103328283C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg470Gln	rs758292286	missense variant	-	NC_000008.11:g.103328284G>A	ExAC,gnomAD
FZD6	O60353	p.Glu472Gly	rs147565570	missense variant	-	NC_000008.11:g.103328290A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu472Gln	rs751323317	missense variant	-	NC_000008.11:g.103328289G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala474Val	rs1432819906	missense variant	-	NC_000008.11:g.103328296C>T	gnomAD
FZD6	O60353	p.Met477Lys	rs768721252	missense variant	-	NC_000008.11:g.103328305T>A	TOPMed
FZD6	O60353	p.Ile478Met	rs777284498	missense variant	-	NC_000008.11:g.103328309A>G	ExAC,gnomAD
FZD6	O60353	p.Tyr480Ter	rs149021436	stop gained	-	NC_000008.11:g.103328315C>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ile485Ser	rs376124026	missense variant	-	NC_000008.11:g.103328329T>G	ESP,ExAC,gnomAD
FZD6	O60353	p.Val486Phe	rs780555971	missense variant	-	NC_000008.11:g.103328331G>T	ExAC,gnomAD
FZD6	O60353	p.Ile488Ser	rs747394243	missense variant	-	NC_000008.11:g.103328338T>G	ExAC,gnomAD
FZD6	O60353	p.Ser489Thr	rs769142373	missense variant	-	NC_000008.11:g.103328340T>A	ExAC,gnomAD
FZD6	O60353	p.Trp493Cys	rs773197811	missense variant	-	NC_000008.11:g.103328354G>T	ExAC,gnomAD
FZD6	O60353	p.Trp493Leu	rs770093420	missense variant	-	NC_000008.11:g.103328353G>T	ExAC,gnomAD
FZD6	O60353	p.Lys498Gln	rs1468284989	missense variant	-	NC_000008.11:g.103328367A>C	TOPMed,gnomAD
FZD6	O60353	p.Ala504Thr	rs1414701442	missense variant	-	NC_000008.11:g.103328385G>A	TOPMed,gnomAD
FZD6	O60353	p.Lys508Ter	rs1385205122	stop gained	-	NC_000008.11:g.103328397A>T	gnomAD
FZD6	O60353	p.Arg509Ter	rs766284226	stop gained	-	NC_000008.11:g.103328400C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg509Gly	rs766284226	missense variant	-	NC_000008.11:g.103328400C>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg509Gln	rs143405641	missense variant	-	NC_000008.11:g.103328401G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Asn510Thr	rs1393674469	missense variant	-	NC_000008.11:g.103328404A>C	gnomAD
FZD6	O60353	p.Arg511His	rs767273753	missense variant	-	NC_000008.11:g.103328407G>A	ExAC,gnomAD
FZD6	O60353	p.Arg511His	rs767273753	missense variant	-	NC_000008.11:g.103328407G>A	UniProt,dbSNP
FZD6	O60353	p.Arg511His	VAR_066967	missense variant	-	NC_000008.11:g.103328407G>A	UniProt
FZD6	O60353	p.Arg511Cys	RCV000077801	missense variant	Nail disease	NC_000008.11:g.103328406C>T	ClinVar
FZD6	O60353	p.Arg511Cys	RCV000023301	missense variant	Nail disorder, nonsyndromic congenital, 10 (NDNC10)	NC_000008.11:g.103328406C>T	ClinVar
FZD6	O60353	p.Arg511Cys	rs151339003	missense variant	Nail disorder, nonsyndromic congenital, 10 (ndnc10)	NC_000008.11:g.103328406C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg511Cys	rs151339003	missense variant	Nail disorder, non-syndromic congenital, 10 (NDNC10)	NC_000008.11:g.103328406C>T	UniProt,dbSNP
FZD6	O60353	p.Arg511Cys	VAR_066398	missense variant	Nail disorder, non-syndromic congenital, 10 (NDNC10)	NC_000008.11:g.103328406C>T	UniProt
FZD6	O60353	p.Lys512Asn	rs1236956669	missense variant	-	NC_000008.11:g.103328411G>C	gnomAD
FZD6	O60353	p.Asp514Gly	rs761539526	missense variant	-	NC_000008.11:g.103328416A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Pro515Leu	rs1291827455	missense variant	-	NC_000008.11:g.103329657C>T	gnomAD
FZD6	O60353	p.Ile516Val	rs1032747700	missense variant	-	NC_000008.11:g.103329659A>G	TOPMed
FZD6	O60353	p.Ser517Cys	rs1271354824	missense variant	-	NC_000008.11:g.103329662A>T	TOPMed
FZD6	O60353	p.Ser519Thr	rs759490885	missense variant	-	NC_000008.11:g.103329669G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg520Pro	rs367925897	missense variant	-	NC_000008.11:g.103329672G>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg520Gln	rs367925897	missense variant	-	NC_000008.11:g.103329672G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg520Leu	rs367925897	missense variant	-	NC_000008.11:g.103329672G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg520Ter	rs151317643	stop gained	-	NC_000008.11:g.103329671C>T	ESP,ExAC,gnomAD
FZD6	O60353	p.Val522Leu	rs140569835	missense variant	-	NC_000008.11:g.103329677G>C	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gln524Arg	rs1439202689	missense variant	-	NC_000008.11:g.103329684A>G	gnomAD
FZD6	O60353	p.Glu525Gln	rs753526077	missense variant	-	NC_000008.11:g.103329686G>C	ExAC,gnomAD
FZD6	O60353	p.Cys527Arg	rs756757913	missense variant	-	NC_000008.11:g.103329692T>C	ExAC,gnomAD
FZD6	O60353	p.Cys527Trp	rs1475451914	missense variant	-	NC_000008.11:g.103329694T>G	gnomAD
FZD6	O60353	p.Lys532Asn	rs1166790169	missense variant	-	NC_000008.11:g.103329709G>T	TOPMed,gnomAD
FZD6	O60353	p.Asn534His	rs764786532	missense variant	-	NC_000008.11:g.103329713A>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Tyr544Cys	rs554970152	missense variant	-	NC_000008.11:g.103329744A>G	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser547Asn	rs1431877722	missense variant	-	NC_000008.11:g.103329753G>A	gnomAD
FZD6	O60353	p.Ser547Gly	rs1021765095	missense variant	-	NC_000008.11:g.103329752A>G	TOPMed
FZD6	O60353	p.His549Tyr	rs375398057	missense variant	-	NC_000008.11:g.103329758C>T	ESP,ExAC,gnomAD
FZD6	O60353	p.Lys550Gln	rs1415822378	missense variant	-	NC_000008.11:g.103329761A>C	gnomAD
FZD6	O60353	p.Val553Ala	rs748578409	missense variant	-	NC_000008.11:g.103329771T>C	ExAC,gnomAD
FZD6	O60353	p.Val553Asp	rs748578409	missense variant	-	NC_000008.11:g.103329771T>A	ExAC,gnomAD
FZD6	O60353	p.Ile554Thr	rs1325234560	missense variant	-	NC_000008.11:g.103329774T>C	gnomAD
FZD6	O60353	p.Ser555Cys	rs756540473	missense variant	-	NC_000008.11:g.103329777C>G	ExAC,gnomAD
FZD6	O60353	p.Ser557Phe	rs145774645	missense variant	-	NC_000008.11:g.103329783C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Met558Leu	rs1208095664	missense variant	-	NC_000008.11:g.103329785A>T	TOPMed,gnomAD
FZD6	O60353	p.Met558Val	rs1208095664	missense variant	-	NC_000008.11:g.103329785A>G	TOPMed,gnomAD
FZD6	O60353	p.Ser561Asn	rs1279212971	missense variant	-	NC_000008.11:g.103329795G>A	TOPMed,gnomAD
FZD6	O60353	p.Ala566Glu	rs749500056	missense variant	-	NC_000008.11:g.103329810C>A	ExAC,gnomAD
FZD6	O60353	p.His568Arg	rs1160809849	missense variant	-	NC_000008.11:g.103329816A>G	gnomAD
FZD6	O60353	p.His568Pro	rs1160809849	missense variant	-	NC_000008.11:g.103329816A>C	gnomAD
FZD6	O60353	p.Ala572Thr	rs1259349680	missense variant	-	NC_000008.11:g.103329827G>A	gnomAD
FZD6	O60353	p.Ile575Val	rs745879785	missense variant	-	NC_000008.11:g.103329836A>G	ExAC,gnomAD
FZD6	O60353	p.His578Arg	rs775395889	missense variant	-	NC_000008.11:g.103329846A>G	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly582Glu	rs760532855	missense variant	-	NC_000008.11:g.103329858G>A	ExAC,gnomAD
FZD6	O60353	p.Gln583Arg	rs776196559	missense variant	-	NC_000008.11:g.103329861A>G	ExAC,gnomAD
FZD6	O60353	p.Glu584Lys	rs151339002	missense variant	Nail disorder, nonsyndromic congenital, 10 (ndnc10)	NC_000008.11:g.103329863G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu584Ter	rs151339002	stop gained	Nail disorder, nonsyndromic congenital, 10 (ndnc10)	NC_000008.11:g.103329863G>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu584Ter	RCV000077802	nonsense	Nail disease	NC_000008.11:g.103329863G>T	ClinVar
FZD6	O60353	p.Glu584Ter	RCV000023300	nonsense	Nail disorder, nonsyndromic congenital, 10 (NDNC10)	NC_000008.11:g.103329863G>T	ClinVar
FZD6	O60353	p.Thr585Ala	rs1339133281	missense variant	-	NC_000008.11:g.103329866A>G	TOPMed
FZD6	O60353	p.Leu586Ser	rs764759728	missense variant	-	NC_000008.11:g.103329870T>C	ExAC,gnomAD
FZD6	O60353	p.Glu588Lys	rs1231505920	missense variant	-	NC_000008.11:g.103329875G>A	TOPMed,gnomAD
FZD6	O60353	p.Glu588Ter	rs1231505920	stop gained	-	NC_000008.11:g.103329875G>T	TOPMed,gnomAD
FZD6	O60353	p.Gln590Ter	rs1359184533	stop gained	-	NC_000008.11:g.103329881C>T	TOPMed,gnomAD
FZD6	O60353	p.Thr591Asn	rs1347605213	missense variant	-	NC_000008.11:g.103329885C>A	TOPMed
FZD6	O60353	p.Thr595Ile	rs963229485	missense variant	-	NC_000008.11:g.103329897C>T	gnomAD
FZD6	O60353	p.Arg598Ter	rs1485454569	stop gained	-	NC_000008.11:g.103329905A>T	gnomAD
FZD6	O60353	p.Glu599Asp	rs758708176	missense variant	-	NC_000008.11:g.103329910G>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu599Lys	rs1355142337	missense variant	-	NC_000008.11:g.103329908G>A	TOPMed
FZD6	O60353	p.Val600Met	rs1381945857	missense variant	-	NC_000008.11:g.103329911G>A	TOPMed,gnomAD
FZD6	O60353	p.Val600Leu	rs1381945857	missense variant	-	NC_000008.11:g.103329911G>T	TOPMed,gnomAD
FZD6	O60353	p.Ala602Val	rs556352002	missense variant	-	NC_000008.11:g.103329918C>T	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly604Arg	rs79408516	missense variant	-	NC_000008.11:g.103329923G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr607Ala	rs749576044	missense variant	-	NC_000008.11:g.103329932A>G	ExAC,gnomAD
FZD6	O60353	p.Thr607Asn	rs757505339	missense variant	-	NC_000008.11:g.103329933C>A	ExAC,gnomAD
FZD6	O60353	p.Arg609Lys	rs143153183	missense variant	-	NC_000008.11:g.103329939G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg609Ser	rs1040321851	missense variant	-	NC_000008.11:g.103329940G>T	TOPMed,gnomAD
FZD6	O60353	p.Arg609Ser	rs1040321851	missense variant	-	NC_000008.11:g.103329940G>C	TOPMed,gnomAD
FZD6	O60353	p.Arg611Ser	rs1324637196	missense variant	-	NC_000008.11:g.103329946A>T	gnomAD
FZD6	O60353	p.Asp614Asn	rs746927610	missense variant	-	NC_000008.11:g.103329953G>A	ExAC,gnomAD
FZD6	O60353	p.Asp614His	rs746927610	missense variant	-	NC_000008.11:g.103329953G>C	ExAC,gnomAD
FZD6	O60353	p.Cys615Ser	rs377263981	missense variant	-	NC_000008.11:g.103329956T>A	ESP,ExAC,gnomAD
FZD6	O60353	p.Cys615Ser	rs1444393939	missense variant	-	NC_000008.11:g.103329957G>C	gnomAD
FZD6	O60353	p.Pro618Arg	rs138824850	missense variant	-	NC_000008.11:g.103329966C>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Pro618Leu	rs138824850	missense variant	-	NC_000008.11:g.103329966C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala619Val	rs903082125	missense variant	-	NC_000008.11:g.103329969C>T	TOPMed
FZD6	O60353	p.Ser620Thr	rs116195528	missense variant	-	NC_000008.11:g.103329971T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser620Leu	rs762588534	missense variant	-	NC_000008.11:g.103329972C>T	ExAC,gnomAD
FZD6	O60353	p.Ala622Gly	rs751060280	missense variant	-	NC_000008.11:g.103329978C>G	ExAC,gnomAD
FZD6	O60353	p.Ala623Val	rs144179120	missense variant	-	NC_000008.11:g.103329981C>T	ESP,ExAC,gnomAD
FZD6	O60353	p.Ile625Val	rs1192966381	missense variant	-	NC_000008.11:g.103329986A>G	gnomAD
FZD6	O60353	p.Ser629Ala	rs754241636	missense variant	-	NC_000008.11:g.103329998T>G	ExAC,gnomAD
FZD6	O60353	p.Gly630Ala	rs757546452	missense variant	-	NC_000008.11:g.103330002G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Glu631Val	rs779174548	missense variant	-	NC_000008.11:g.103330005A>T	ExAC,gnomAD
FZD6	O60353	p.Glu631Gln	rs1164898443	missense variant	-	NC_000008.11:g.103330004G>C	gnomAD
FZD6	O60353	p.Gln632Ter	rs750613302	stop gained	-	NC_000008.11:g.103330007C>T	ExAC,gnomAD
FZD6	O60353	p.Val633Ile	rs758522857	missense variant	-	NC_000008.11:g.103330010G>A	ExAC,gnomAD
FZD6	O60353	p.Asp634Asn	rs139052958	missense variant	-	NC_000008.11:g.103330013G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Asp634His	rs139052958	missense variant	-	NC_000008.11:g.103330013G>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly635Arg	rs116913901	missense variant	-	NC_000008.11:g.103330016G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala639Thr	rs1175129726	missense variant	-	NC_000008.11:g.103330028G>A	TOPMed
FZD6	O60353	p.Ala639Gly	rs1173573170	missense variant	-	NC_000008.11:g.103330029C>G	gnomAD
FZD6	O60353	p.Ser641Asn	rs769442423	missense variant	-	NC_000008.11:g.103330035G>A	ExAC,gnomAD
FZD6	O60353	p.Glu644Ala	rs1419232323	missense variant	-	NC_000008.11:g.103330044A>C	TOPMed
FZD6	O60353	p.Ser645Ile	rs371961225	missense variant	-	NC_000008.11:g.103330047G>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser645Arg	rs1456980766	missense variant	-	NC_000008.11:g.103330048T>A	TOPMed
FZD6	O60353	p.Ser645Gly	rs1323413408	missense variant	-	NC_000008.11:g.103330046A>G	gnomAD
FZD6	O60353	p.Ser645Asn	rs371961225	missense variant	-	NC_000008.11:g.103330047G>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala646Thr	rs1231211711	missense variant	-	NC_000008.11:g.103330049G>A	TOPMed,gnomAD
FZD6	O60353	p.Ala646Gly	rs141288802	missense variant	-	NC_000008.11:g.103330050C>G	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala646Val	rs141288802	missense variant	-	NC_000008.11:g.103330050C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Arg647Trp	rs201432167	missense variant	-	NC_000008.11:g.103330052C>T	TOPMed,gnomAD
FZD6	O60353	p.Arg647Gln	rs768811178	missense variant	-	NC_000008.11:g.103330053G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser648Arg	rs758912519	missense variant	-	NC_000008.11:g.103330057T>A	ExAC,gnomAD
FZD6	O60353	p.Ser653Thr	rs751676826	missense variant	-	NC_000008.11:g.103331346G>C	ExAC,gnomAD
FZD6	O60353	p.Pro654Ser	rs996103644	missense variant	-	NC_000008.11:g.103331348C>T	gnomAD
FZD6	O60353	p.Asp657Gly	rs558778118	missense variant	-	NC_000008.11:g.103331358A>G	ExAC,gnomAD
FZD6	O60353	p.Ile658Thr	rs748009628	missense variant	-	NC_000008.11:g.103331361T>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Thr661Ile	rs769718856	missense variant	-	NC_000008.11:g.103331370C>T	ExAC,gnomAD
FZD6	O60353	p.Gly662Ser	rs749023962	missense variant	-	NC_000008.11:g.103331372G>A	ExAC,gnomAD
FZD6	O60353	p.Ala664Glu	rs12549394	missense variant	-	NC_000008.11:g.103331379C>A	UniProt,dbSNP
FZD6	O60353	p.Ala664Glu	VAR_047442	missense variant	-	NC_000008.11:g.103331379C>A	UniProt
FZD6	O60353	p.Ala664Glu	rs12549394	missense variant	-	NC_000008.11:g.103331379C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ala664Val	rs12549394	missense variant	-	NC_000008.11:g.103331379C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser666Thr	rs749101422	missense variant	-	NC_000008.11:g.103331385G>C	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu669Ser	rs777245445	missense variant	-	NC_000008.11:g.103331394T>C	ExAC,gnomAD
FZD6	O60353	p.Gln670Arg	rs1279797675	missense variant	-	NC_000008.11:g.103331397A>G	gnomAD
FZD6	O60353	p.Val671Ile	rs1376631182	missense variant	-	NC_000008.11:g.103331399G>A	TOPMed
FZD6	O60353	p.Pro672Thr	rs970326057	missense variant	-	NC_000008.11:g.103331402C>A	TOPMed
FZD6	O60353	p.Pro677Thr	rs1418634189	missense variant	-	NC_000008.11:g.103331417C>A	TOPMed
FZD6	O60353	p.Pro677Leu	rs773575339	missense variant	-	NC_000008.11:g.103331418C>T	ExAC,gnomAD
FZD6	O60353	p.Ser678Asn	rs1465708211	missense variant	-	NC_000008.11:g.103331421G>A	gnomAD
FZD6	O60353	p.Ser678Arg	rs763249133	missense variant	-	NC_000008.11:g.103331422C>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Ser679Gly	rs573163067	missense variant	-	NC_000008.11:g.103331423A>G	1000Genomes,ExAC,gnomAD
FZD6	O60353	p.Leu680Phe	rs145137978	missense variant	-	NC_000008.11:g.103331426C>T	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Leu680Ile	rs145137978	missense variant	-	NC_000008.11:g.103331426C>A	ESP,ExAC,TOPMed,gnomAD
FZD6	O60353	p.Lys681Arg	rs1001359011	missense variant	-	NC_000008.11:g.103331430A>G	TOPMed,gnomAD
FZD6	O60353	p.Gly682Ala	rs1426821574	missense variant	-	NC_000008.11:g.103331433G>C	gnomAD
FZD6	O60353	p.Ser683Phe	rs767514175	missense variant	-	NC_000008.11:g.103331436C>T	ExAC,gnomAD
FZD6	O60353	p.Leu687Phe	rs1345737229	missense variant	-	NC_000008.11:g.103331447C>T	gnomAD
FZD6	O60353	p.Val688Ile	rs1437140239	missense variant	-	NC_000008.11:g.103331450G>A	gnomAD
FZD6	O60353	p.Pro690Leu	rs1035910686	missense variant	-	NC_000008.11:g.103331457C>T	TOPMed,gnomAD
FZD6	O60353	p.Gln698Pro	rs1347370815	missense variant	-	NC_000008.11:g.103331481A>C	TOPMed,gnomAD
FZD6	O60353	p.Gln698Ter	rs1275708078	stop gained	-	NC_000008.11:g.103331480C>T	gnomAD
FZD6	O60353	p.Gly700Ser	rs749153508	missense variant	-	NC_000008.11:g.103331486G>A	ExAC,TOPMed,gnomAD
FZD6	O60353	p.Gly701Val	rs1221924968	missense variant	-	NC_000008.11:g.103331490G>T	gnomAD
FZD6	O60353	p.Gly701Ser	rs1350106717	missense variant	-	NC_000008.11:g.103331489G>A	TOPMed
FZD6	O60353	p.Cys702Tyr	rs757112285	missense variant	-	NC_000008.11:g.103331493G>A	ExAC,gnomAD
FZD6	O60353	p.Ter707Gly	rs778666015	stop lost	-	NC_000008.11:g.103331507T>G	ExAC,gnomAD
FZD6	O60353	p.Ter707Cys	rs771707817	stop lost	-	NC_000008.11:g.103331509A>T	ExAC,gnomAD
ZIC3	O60481	p.Met3Lys	COSM6117582	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566699T>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Leu5Pro	rs776181924	missense variant	-	NC_000023.11:g.137566705T>C	ExAC,gnomAD
ZIC3	O60481	p.Gly7Arg	rs763534805	missense variant	-	NC_000023.11:g.137566710G>C	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Gly7Arg	rs763534805	missense variant	-	NC_000023.11:g.137566710G>A	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Gly7Arg	RCV000479375	missense variant	-	NC_000023.11:g.137566710G>C	ClinVar
ZIC3	O60481	p.Pro9Arg	rs764613910	missense variant	-	NC_000023.11:g.137566717C>G	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Gln10Leu	rs771361451	missense variant	-	NC_000023.11:g.137566720A>T	TOPMed,gnomAD
ZIC3	O60481	p.Phe11Leu	rs1327091342	missense variant	-	NC_000023.11:g.137566722T>C	gnomAD
ZIC3	O60481	p.Pro12His	rs774855618	missense variant	-	NC_000023.11:g.137566726C>A	ExAC
ZIC3	O60481	p.Pro12Arg	rs774855618	missense variant	-	NC_000023.11:g.137566726C>G	ExAC
ZIC3	O60481	p.Gly13Arg	rs1282949452	missense variant	-	NC_000023.11:g.137566728G>A	gnomAD
ZIC3	O60481	p.Gly13Trp	rs1282949452	missense variant	-	NC_000023.11:g.137566728G>T	gnomAD
ZIC3	O60481	p.Gly15Ala	rs762020217	missense variant	-	NC_000023.11:g.137566735G>C	ExAC,gnomAD
ZIC3	O60481	p.Gly17Ser	rs147232392	missense variant	-	NC_000023.11:g.137566740G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Gly17Cys	rs147232392	missense variant	-	NC_000023.11:g.137566740G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Gly17Cys	rs147232392	missense variant	-	NC_000023.11:g.137566740G>T	UniProt,dbSNP
ZIC3	O60481	p.Gly17Cys	VAR_071330	missense variant	-	NC_000023.11:g.137566740G>T	UniProt
ZIC3	O60481	p.Gly17Cys	RCV000201846	missense variant	VACTERL association with hydrocephaly, X-linked (VACTERLX)	NC_000023.11:g.137566740G>T	ClinVar
ZIC3	O60481	p.Phe19Leu	rs1401456178	missense variant	-	NC_000023.11:g.137566746T>C	TOPMed
ZIC3	O60481	p.Phe19Leu	rs1487142561	missense variant	-	NC_000023.11:g.137566748C>G	TOPMed,gnomAD
ZIC3	O60481	p.Gly20Cys	rs865923026	missense variant	-	NC_000023.11:g.137566749G>T	TOPMed,gnomAD
ZIC3	O60481	p.Gly20Arg	rs865923026	missense variant	-	NC_000023.11:g.137566749G>C	TOPMed,gnomAD
ZIC3	O60481	p.Gly20Ala	COSM1465913	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566750G>C	NCI-TCGA Cosmic
ZIC3	O60481	p.Ala21Glu	rs1429776680	missense variant	-	NC_000023.11:g.137566753C>A	gnomAD
ZIC3	O60481	p.Ala21Thr	rs1261924503	missense variant	-	NC_000023.11:g.137566752G>A	gnomAD
ZIC3	O60481	p.Ala21Val	NCI-TCGA novel	missense variant	-	chrX:g.137566753C>T	NCI-TCGA
ZIC3	O60481	p.Arg23His	rs1184725289	missense variant	-	NC_000023.11:g.137566759G>A	gnomAD
ZIC3	O60481	p.Arg23His	NCI-TCGA novel	missense variant	-	chrX:g.137566759G>A	NCI-TCGA
ZIC3	O60481	p.Arg23Leu	rs1184725289	missense variant	-	NC_000023.11:g.137566759G>T	gnomAD
ZIC3	O60481	p.His24Asn	rs1448705838	missense variant	-	NC_000023.11:g.137566761C>A	TOPMed,gnomAD
ZIC3	O60481	p.His25Gln	rs61735157	missense variant	-	NC_000023.11:g.137566766C>G	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.His25Tyr	rs1384553961	missense variant	-	NC_000023.11:g.137566764C>T	gnomAD
ZIC3	O60481	p.His25Gln	RCV000624165	missense variant	Inborn genetic diseases	NC_000023.11:g.137566766C>G	ClinVar
ZIC3	O60481	p.Glu26Gln	rs1165286755	missense variant	-	NC_000023.11:g.137566767G>C	gnomAD
ZIC3	O60481	p.Met27Ile	COSM6185442	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566772G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Pro28Ser	rs756255074	missense variant	-	NC_000023.11:g.137566773C>T	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Pro28Thr	rs756255074	missense variant	-	NC_000023.11:g.137566773C>A	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Asn29Lys	COSM755200	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566778C>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Arg30Cys	rs1243589223	missense variant	-	NC_000023.11:g.137566779C>T	TOPMed
ZIC3	O60481	p.Arg30His	rs766420888	missense variant	-	NC_000023.11:g.137566780G>A	ExAC,gnomAD
ZIC3	O60481	p.Arg30Cys	COSM1233483	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566779C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Arg30Ser	NCI-TCGA novel	missense variant	-	chrX:g.137566779C>A	NCI-TCGA
ZIC3	O60481	p.Arg30Leu	rs766420888	missense variant	-	NC_000023.11:g.137566780G>T	ExAC,gnomAD
ZIC3	O60481	p.Arg30Pro	rs766420888	missense variant	-	NC_000023.11:g.137566780G>C	ExAC,gnomAD
ZIC3	O60481	p.Glu31Asp	rs758325909	missense variant	-	NC_000023.11:g.137566784G>C	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Glu31Val	rs752686913	missense variant	-	NC_000023.11:g.137566783A>T	ExAC,gnomAD
ZIC3	O60481	p.Pro32Leu	NCI-TCGA novel	missense variant	-	chrX:g.137566786C>T	NCI-TCGA
ZIC3	O60481	p.Ala33Ser	rs746833203	missense variant	-	NC_000023.11:g.137566788G>T	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Ala33Val	RCV000640719	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137566789C>T	ClinVar
ZIC3	O60481	p.Ala33Val	rs201398331	missense variant	-	NC_000023.11:g.137566789C>T	1000Genomes,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Gly34Asp	rs1205087893	missense variant	-	NC_000023.11:g.137566792G>A	TOPMed
ZIC3	O60481	p.Met35Val	rs780929975	missense variant	-	NC_000023.11:g.137566794A>G	ExAC,gnomAD
ZIC3	O60481	p.Pro39Leu	rs1302645424	missense variant	-	NC_000023.11:g.137566807C>T	TOPMed
ZIC3	O60481	p.Gly41Arg	NCI-TCGA novel	missense variant	-	chrX:g.137566812G>A	NCI-TCGA
ZIC3	O60481	p.Ser43Ter	RCV000754889	nonsense	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137566819C>A	ClinVar
ZIC3	O60481	p.Thr44Ser	rs78870836	missense variant	-	NC_000023.11:g.137566822C>G	1000Genomes,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Thr44Ser	RCV000274738	missense variant	Congenital heart defects 1, nonsyndromic, 1	NC_000023.11:g.137566822C>G	ClinVar
ZIC3	O60481	p.Thr44Ser	RCV000355474	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137566822C>G	ClinVar
ZIC3	O60481	p.Thr44Ser	RCV000329757	missense variant	VACTERL association with hydrocephaly, X-linked (VACTERLX)	NC_000023.11:g.137566822C>G	ClinVar
ZIC3	O60481	p.Ala46Gly	rs1198275782	missense variant	-	NC_000023.11:g.137566828C>G	gnomAD
ZIC3	O60481	p.Ala46insAlaAlaAla	VAR_066626	repeated_sequence	VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390]	-	UniProt
ZIC3	O60481	p.Ala48Thr	rs1241955958	missense variant	-	NC_000023.11:g.137566833G>A	gnomAD
ZIC3	O60481	p.Ala48Val	rs1461768011	missense variant	-	NC_000023.11:g.137566834C>T	gnomAD
ZIC3	O60481	p.Ala49Thr	rs1185336428	missense variant	-	NC_000023.11:g.137566836G>A	gnomAD
ZIC3	O60481	p.Ala50Pro	rs749880079	missense variant	-	NC_000023.11:g.137566839G>C	ExAC
ZIC3	O60481	p.Ala53insAlaAla	VAR_071331	duplication	-	-	UniProt
ZIC3	O60481	p.Ala55Thr	rs1364623611	missense variant	-	NC_000023.11:g.137566854G>A	gnomAD
ZIC3	O60481	p.Ser59Asn	rs1334871954	missense variant	-	NC_000023.11:g.137566867G>A	gnomAD
ZIC3	O60481	p.Ala61Gly	rs1405421535	missense variant	-	NC_000023.11:g.137566873C>G	TOPMed,gnomAD
ZIC3	O60481	p.Ala62Val	COSM3843718	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137566876C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.His64Gln	rs1210045566	missense variant	-	NC_000023.11:g.137566883C>G	TOPMed
ZIC3	O60481	p.Gly69Ser	rs1339272626	missense variant	-	NC_000023.11:g.137566896G>A	gnomAD
ZIC3	O60481	p.Ser71Asn	rs1310887538	missense variant	-	NC_000023.11:g.137566903G>A	TOPMed
ZIC3	O60481	p.Thr75Met	rs772291510	missense variant	-	NC_000023.11:g.137566915C>T	ExAC,gnomAD
ZIC3	O60481	p.Thr75Lys	rs772291510	missense variant	-	NC_000023.11:g.137566915C>A	ExAC,gnomAD
ZIC3	O60481	p.Pro76Leu	rs1308128585	missense variant	-	NC_000023.11:g.137566918C>T	TOPMed,gnomAD
ZIC3	O60481	p.Gly80Val	rs1262033934	missense variant	-	NC_000023.11:g.137566930G>T	gnomAD
ZIC3	O60481	p.Ala84Gly	rs960337313	missense variant	-	NC_000023.11:g.137566942C>G	TOPMed
ZIC3	O60481	p.Gly86Asp	NCI-TCGA novel	missense variant	-	chrX:g.137566948G>A	NCI-TCGA
ZIC3	O60481	p.His90Tyr	rs1177620943	missense variant	-	NC_000023.11:g.137566959C>T	gnomAD
ZIC3	O60481	p.His94Arg	rs1302283100	missense variant	-	NC_000023.11:g.137566972A>G	TOPMed
ZIC3	O60481	p.His95Tyr	rs1464489288	missense variant	-	NC_000023.11:g.137566974C>T	TOPMed
ZIC3	O60481	p.Thr98Ser	rs1174562828	missense variant	-	NC_000023.11:g.137566983A>T	gnomAD
ZIC3	O60481	p.Val101Glu	rs1428775459	missense variant	-	NC_000023.11:g.137566993T>A	gnomAD
ZIC3	O60481	p.Pro102Leu	rs766511169	missense variant	-	NC_000023.11:g.137566996C>T	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Ser103Asn	rs753919160	missense variant	-	NC_000023.11:g.137566999G>A	ExAC,gnomAD
ZIC3	O60481	p.Ala107Thr	rs759553920	missense variant	-	NC_000023.11:g.137567010G>A	ExAC,gnomAD
ZIC3	O60481	p.Ser109Cys	rs373628598	missense variant	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137567017C>G	UniProt,dbSNP
ZIC3	O60481	p.Ser109Cys	VAR_071332	missense variant	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137567017C>G	UniProt
ZIC3	O60481	p.Ser109Cys	rs373628598	missense variant	-	NC_000023.11:g.137567017C>G	ESP,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Ala110Thr	rs1375970138	missense variant	-	NC_000023.11:g.137567019G>A	gnomAD
ZIC3	O60481	p.Arg116His	rs1282251919	missense variant	-	NC_000023.11:g.137567038G>A	gnomAD
ZIC3	O60481	p.Phe120Leu	rs1345706118	missense variant	-	NC_000023.11:g.137567051C>A	gnomAD
ZIC3	O60481	p.Phe120Leu	NCI-TCGA novel	missense variant	-	chrX:g.137567051C>A	NCI-TCGA
ZIC3	O60481	p.Arg121His	rs1224843378	missense variant	-	NC_000023.11:g.137567053G>A	gnomAD
ZIC3	O60481	p.Arg123His	rs751413121	missense variant	-	NC_000023.11:g.137567059G>A	ExAC,gnomAD
ZIC3	O60481	p.Ser124Thr	rs1388056683	missense variant	-	NC_000023.11:g.137567062G>C	TOPMed
ZIC3	O60481	p.Ser124Ile	COSM6185440	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567062G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Gly126Val	rs1444804206	missense variant	-	NC_000023.11:g.137567068G>T	TOPMed
ZIC3	O60481	p.Ala130Val	rs1252941005	missense variant	-	NC_000023.11:g.137567080C>T	gnomAD
ZIC3	O60481	p.Gly133Ser	rs757117094	missense variant	-	NC_000023.11:g.137567088G>A	ExAC,gnomAD
ZIC3	O60481	p.Gly135Trp	rs1198371172	missense variant	-	NC_000023.11:g.137567094G>T	gnomAD
ZIC3	O60481	p.Gly135Glu	rs1268469878	missense variant	-	NC_000023.11:g.137567095G>A	gnomAD
ZIC3	O60481	p.Gly138Arg	rs1201730367	missense variant	-	NC_000023.11:g.137567103G>C	gnomAD
ZIC3	O60481	p.Gly138Arg	COSM4106975	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567103G>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Ala141Val	NCI-TCGA novel	missense variant	-	chrX:g.137567113C>T	NCI-TCGA
ZIC3	O60481	p.Gly142Arg	rs1235146029	missense variant	-	NC_000023.11:g.137567115G>C	TOPMed
ZIC3	O60481	p.Ala144Val	rs943629082	missense variant	-	NC_000023.11:g.137567122C>T	TOPMed,gnomAD
ZIC3	O60481	p.Leu147Gln	NCI-TCGA novel	missense variant	-	chrX:g.137567131T>A	NCI-TCGA
ZIC3	O60481	p.His148Asn	rs1365863941	missense variant	-	NC_000023.11:g.137567133C>A	gnomAD
ZIC3	O60481	p.His148Asn	NCI-TCGA novel	missense variant	-	chrX:g.137567133C>A	NCI-TCGA
ZIC3	O60481	p.Ala149Thr	rs769498242	missense variant	-	NC_000023.11:g.137567136G>A	1000Genomes,ExAC,gnomAD
ZIC3	O60481	p.Gly152Ser	rs1248464762	missense variant	-	NC_000023.11:g.137567145G>A	TOPMed
ZIC3	O60481	p.Ile153Val	rs1267957400	missense variant	-	NC_000023.11:g.137567148A>G	TOPMed,gnomAD
ZIC3	O60481	p.Glu155SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.137567150C>-	NCI-TCGA
ZIC3	O60481	p.Pro156His	NCI-TCGA novel	missense variant	-	chrX:g.137567158C>A	NCI-TCGA
ZIC3	O60481	p.Pro157Thr	rs867186935	missense variant	-	NC_000023.11:g.137567160C>A	gnomAD
ZIC3	O60481	p.Pro157Leu	NCI-TCGA novel	missense variant	-	chrX:g.137567161C>T	NCI-TCGA
ZIC3	O60481	p.Ser158Asn	rs1249609225	missense variant	-	NC_000023.11:g.137567164G>A	gnomAD
ZIC3	O60481	p.Ser158Gly	rs779510281	missense variant	-	NC_000023.11:g.137567163A>G	ExAC,gnomAD
ZIC3	O60481	p.Tyr159Ter	RCV000540603	frameshift	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567167_137567170del	ClinVar
ZIC3	O60481	p.Phe162Val	rs1221526194	missense variant	-	NC_000023.11:g.137567175T>G	gnomAD
ZIC3	O60481	p.Pro163Ser	rs1292187579	missense variant	-	NC_000023.11:g.137567178C>T	TOPMed,gnomAD
ZIC3	O60481	p.Pro163Thr	rs1292187579	missense variant	-	NC_000023.11:g.137567178C>A	TOPMed,gnomAD
ZIC3	O60481	p.Pro163His	COSM6185438	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567179C>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Gly164Arg	rs1490593064	missense variant	-	NC_000023.11:g.137567181G>A	gnomAD
ZIC3	O60481	p.Gly164Glu	rs748579579	missense variant	-	NC_000023.11:g.137567182G>A	ExAC
ZIC3	O60481	p.Gly164Glu	rs748579579	missense variant	-	chrX:g.137567182G>A	NCI-TCGA,NCI-TCGA Cosmic
ZIC3	O60481	p.Ala170Pro	COSM6185436	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567199G>C	NCI-TCGA Cosmic
ZIC3	O60481	p.Ser174Leu	COSM4999041	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567212C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Pro175Arg	rs1443302015	missense variant	-	NC_000023.11:g.137567215C>G	gnomAD
ZIC3	O60481	p.Pro175Ala	rs763037926	missense variant	-	NC_000023.11:g.137567214C>G	1000Genomes,ExAC,gnomAD
ZIC3	O60481	p.Thr176Ala	rs771154908	missense variant	-	NC_000023.11:g.137567217A>G	ExAC,gnomAD
ZIC3	O60481	p.Gly177Val	rs1386246838	missense variant	-	NC_000023.11:g.137567221G>T	TOPMed,gnomAD
ZIC3	O60481	p.Gly177Glu	rs1386246838	missense variant	-	NC_000023.11:g.137567221G>A	TOPMed,gnomAD
ZIC3	O60481	p.His178Gln	rs776785233	missense variant	-	NC_000023.11:g.137567225C>G	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.His178Gln	rs776785233	missense variant	-	NC_000023.11:g.137567225C>A	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Val179Met	rs1198015588	missense variant	-	NC_000023.11:g.137567226G>A	gnomAD
ZIC3	O60481	p.Val179Ter	RCV000691248	frameshift	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567226dup	ClinVar
ZIC3	O60481	p.His185Gln	COSM6185432	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567246C>A	NCI-TCGA Cosmic
ZIC3	O60481	p.His185Asn	COSM6185434	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567244C>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Leu186Pro	rs765201397	missense variant	-	NC_000023.11:g.137567248T>C	ExAC,gnomAD
ZIC3	O60481	p.Gly187Trp	NCI-TCGA novel	missense variant	-	chrX:g.137567250G>T	NCI-TCGA
ZIC3	O60481	p.Arg189His	rs1290090550	missense variant	-	NC_000023.11:g.137567257G>A	gnomAD
ZIC3	O60481	p.Gly190Val	COSM4106977	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567260G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Gly194Arg	rs1420393507	missense variant	-	NC_000023.11:g.137567271G>C	TOPMed
ZIC3	O60481	p.Gly194Cys	COSM6052661	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567271G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Arg195His	rs1245144713	missense variant	-	NC_000023.11:g.137567275G>A	gnomAD
ZIC3	O60481	p.Arg195Pro	rs1245144713	missense variant	-	NC_000023.11:g.137567275G>C	gnomAD
ZIC3	O60481	p.Arg195Cys	rs761644167	missense variant	-	NC_000023.11:g.137567274C>T	ExAC,TOPMed
ZIC3	O60481	p.Arg195Gly	rs761644167	missense variant	-	NC_000023.11:g.137567274C>G	ExAC,TOPMed
ZIC3	O60481	p.Arg195Cys	COSM3372088	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567274C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Ala196Val	rs1315537867	missense variant	-	NC_000023.11:g.137567278C>T	TOPMed,gnomAD
ZIC3	O60481	p.Pro198Arg	rs961312742	missense variant	-	NC_000023.11:g.137567284C>G	gnomAD
ZIC3	O60481	p.Pro198Leu	rs961312742	missense variant	-	NC_000023.11:g.137567284C>T	gnomAD
ZIC3	O60481	p.Pro198Ter	RCV000754890	frameshift	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567284_137567300del	ClinVar
ZIC3	O60481	p.Arg200Ser	rs767415936	missense variant	-	NC_000023.11:g.137567289C>A	ExAC,gnomAD
ZIC3	O60481	p.Arg200His	COSM1115856	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567290G>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Val202Met	NCI-TCGA novel	missense variant	-	chrX:g.137567295G>A	NCI-TCGA
ZIC3	O60481	p.Ala203Thr	rs140823819	missense variant	-	NC_000023.11:g.137567298G>A	ESP,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Ser204Asn	COSM3558362	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567302G>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Pro205Arg	rs755920134	missense variant	-	NC_000023.11:g.137567305C>G	ExAC,gnomAD
ZIC3	O60481	p.Arg206Cys	NCI-TCGA novel	missense variant	-	chrX:g.137567307C>T	NCI-TCGA
ZIC3	O60481	p.Thr207Met	COSM1465914	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567311C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Asp208Gly	COSM307292	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567314A>G	NCI-TCGA Cosmic
ZIC3	O60481	p.Pro209Ser	rs920553380	missense variant	-	NC_000023.11:g.137567316C>T	TOPMed
ZIC3	O60481	p.Tyr210Ter	NCI-TCGA novel	stop gained	-	chrX:g.137567321C>G	NCI-TCGA
ZIC3	O60481	p.Ala211Gly	rs1249944559	missense variant	-	NC_000023.11:g.137567323C>G	gnomAD
ZIC3	O60481	p.Gly213Asp	COSM1465915	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567329G>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Gly213Ser	NCI-TCGA novel	missense variant	-	chrX:g.137567328G>A	NCI-TCGA
ZIC3	O60481	p.Ala214Val	rs754581917	missense variant	-	NC_000023.11:g.137567332C>T	ExAC,gnomAD
ZIC3	O60481	p.Ala214Thr	COSM267797	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567331G>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Gln215Ter	COSM462309	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.137567334C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Pro217Ala	rs104894963	missense variant	-	NC_000023.11:g.137567340C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Pro217Ala	rs104894963	missense variant	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137567340C>G	UniProt,dbSNP
ZIC3	O60481	p.Pro217Ala	VAR_025632	missense variant	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137567340C>G	UniProt
ZIC3	O60481	p.Pro217Ala	RCV000275713	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567340C>G	ClinVar
ZIC3	O60481	p.Pro217Ala	RCV000370424	missense variant	Congenital heart defects 1, nonsyndromic, 1	NC_000023.11:g.137567340C>G	ClinVar
ZIC3	O60481	p.Pro217Ala	RCV000326072	missense variant	VACTERL association with hydrocephaly, X-linked (VACTERLX)	NC_000023.11:g.137567340C>G	ClinVar
ZIC3	O60481	p.Pro217Arg	COSM6117580	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567341C>G	NCI-TCGA Cosmic
ZIC3	O60481	p.Pro217Ala	RCV000514533	missense variant	-	NC_000023.11:g.137567340C>G	ClinVar
ZIC3	O60481	p.Asn218Lys	rs1473996300	missense variant	-	NC_000023.11:g.137567345C>G	gnomAD
ZIC3	O60481	p.Ser220Gly	rs1289003512	missense variant	-	NC_000023.11:g.137567349A>G	TOPMed
ZIC3	O60481	p.Ser220Ile	COSM1115857	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567350G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Pro221Ala	rs758831851	missense variant	-	NC_000023.11:g.137567352C>G	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Asn223Ser	rs1034877221	missense variant	-	NC_000023.11:g.137567359A>G	TOPMed,gnomAD
ZIC3	O60481	p.Asn223Asp	rs939481931	missense variant	-	NC_000023.11:g.137567358A>G	TOPMed,gnomAD
ZIC3	O60481	p.Met226Leu	rs778283887	missense variant	-	NC_000023.11:g.137567367A>C	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Val228Ala	rs1454975122	missense variant	-	NC_000023.11:g.137567374T>C	TOPMed
ZIC3	O60481	p.Val228Met	rs373327450	missense variant	-	NC_000023.11:g.137567373G>A	ESP,ExAC,TOPMed
ZIC3	O60481	p.Asn229Ser	rs771246553	missense variant	-	NC_000023.11:g.137567377A>G	ExAC,gnomAD
ZIC3	O60481	p.Asn229Thr	rs771246553	missense variant	-	NC_000023.11:g.137567377A>C	ExAC,gnomAD
ZIC3	O60481	p.Ala231Gly	rs746070565	missense variant	-	NC_000023.11:g.137567383C>G	ExAC,gnomAD
ZIC3	O60481	p.Ala232Thr	NCI-TCGA novel	missense variant	-	chrX:g.137567385G>A	NCI-TCGA
ZIC3	O60481	p.His234Asn	rs1439788687	missense variant	-	NC_000023.11:g.137567391C>A	TOPMed,gnomAD
ZIC3	O60481	p.His234Asp	rs1439788687	missense variant	-	NC_000023.11:g.137567391C>G	TOPMed,gnomAD
ZIC3	O60481	p.Ala238Thr	NCI-TCGA novel	missense variant	-	chrX:g.137567403G>A	NCI-TCGA
ZIC3	O60481	p.Phe240Leu	rs1224538076	missense variant	-	NC_000023.11:g.137567409T>C	gnomAD
ZIC3	O60481	p.Phe240Cys	NCI-TCGA novel	missense variant	-	chrX:g.137567410T>G	NCI-TCGA
ZIC3	O60481	p.Arg244Trp	COSM1115858	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567421C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Ile247Val	rs377356678	missense variant	-	NC_000023.11:g.137567430A>G	ESP,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Ile247Phe	COSM3424511	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567430A>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Gln249Ter	rs104894960	stop gained	-	NC_000023.11:g.137567436C>T	-
ZIC3	O60481	p.Gln249Ter	RCV000012189	nonsense	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567436C>T	ClinVar
ZIC3	O60481	p.Ser252Ter	RCV000754887	nonsense	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567446C>A	ClinVar
ZIC3	O60481	p.Ser252Leu	rs1203069392	missense variant	-	NC_000023.11:g.137567446C>T	gnomAD
ZIC3	O60481	p.Ser252Leu	COSM1115859	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567446C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Cys253Ser	RCV000754888	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567448T>A	ClinVar
ZIC3	O60481	p.Cys253Ser	RCV000012190	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567449G>C	ClinVar
ZIC3	O60481	p.Cys253Ser	rs122463167	missense variant	-	NC_000023.11:g.137567448T>A	-
ZIC3	O60481	p.Cys253Ser	rs104894961	missense variant	-	NC_000023.11:g.137567449G>C	-
ZIC3	O60481	p.Cys253Ser	rs104894961	missense variant	Heterotaxy, visceral, 1, X-linked (HTX1)	NC_000023.11:g.137567449G>C	UniProt,dbSNP
ZIC3	O60481	p.Cys253Ser	VAR_025633	missense variant	Heterotaxy, visceral, 1, X-linked (HTX1)	NC_000023.11:g.137567449G>C	UniProt
ZIC3	O60481	p.Trp255Gly	rs122463168	missense variant	-	NC_000023.11:g.137567454T>G	-
ZIC3	O60481	p.Trp255Ser	rs886041111	missense variant	-	NC_000023.11:g.137567455G>C	-
ZIC3	O60481	p.Trp255Cys	NCI-TCGA novel	missense variant	-	chrX:g.137567456G>C	NCI-TCGA
ZIC3	O60481	p.Trp255Gly	RCV000012194	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567454T>G	ClinVar
ZIC3	O60481	p.Trp255Ser	RCV000258959	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567455G>C	ClinVar
ZIC3	O60481	p.Ile256Met	rs1201620129	missense variant	-	NC_000023.11:g.137567459C>G	TOPMed
ZIC3	O60481	p.Asp257Gly	COSM6185430	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567461A>G	NCI-TCGA Cosmic
ZIC3	O60481	p.Asp257Asn	NCI-TCGA novel	missense variant	-	chrX:g.137567460G>A	NCI-TCGA
ZIC3	O60481	p.Glu258Gly	rs1301255366	missense variant	-	NC_000023.11:g.137567464A>G	gnomAD
ZIC3	O60481	p.Ala259Val	rs945584167	missense variant	-	NC_000023.11:g.137567467C>T	gnomAD
ZIC3	O60481	p.Ser262Arg	NCI-TCGA novel	missense variant	-	chrX:g.137567477C>G	NCI-TCGA
ZIC3	O60481	p.Cys268Ter	RCV000012187	nonsense	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567495C>A	ClinVar
ZIC3	O60481	p.Cys268Ter	rs122462166	stop gained	-	NC_000023.11:g.137567495C>A	-
ZIC3	O60481	p.Arg270Gln	rs1267061583	missense variant	-	NC_000023.11:g.137567500G>A	TOPMed
ZIC3	O60481	p.Met275Leu	rs1466369334	missense variant	-	NC_000023.11:g.137567514A>T	TOPMed
ZIC3	O60481	p.Glu277Lys	rs1269001464	missense variant	-	NC_000023.11:g.137567520G>A	TOPMed
ZIC3	O60481	p.Val279Glu	rs1327134361	missense variant	-	NC_000023.11:g.137567527T>A	TOPMed
ZIC3	O60481	p.Val282Ile	rs1235557142	missense variant	-	NC_000023.11:g.137567535G>A	gnomAD
ZIC3	O60481	p.Glu285Asp	NCI-TCGA novel	missense variant	-	chrX:g.137567546G>T	NCI-TCGA
ZIC3	O60481	p.His286Arg	VAR_025634	Missense	Heterotaxy, visceral, 1, X-linked (HTX1) [MIM:306955]	-	UniProt
ZIC3	O60481	p.Gly289Ser	rs151121012	missense variant	-	NC_000023.11:g.137567556G>A	ESP,ExAC,gnomAD
ZIC3	O60481	p.Pro290Leu	rs752160420	missense variant	-	NC_000023.11:g.137567560C>T	ExAC,gnomAD
ZIC3	O60481	p.Pro290Leu	rs752160420	missense variant	-	chrX:g.137567560C>T	NCI-TCGA,NCI-TCGA Cosmic
ZIC3	O60481	p.Gln292His	rs1444020526	missense variant	-	NC_000023.11:g.137567567G>C	TOPMed,gnomAD
ZIC3	O60481	p.Asn294Lys	rs1298851009	missense variant	-	NC_000023.11:g.137567573C>G	TOPMed
ZIC3	O60481	p.Asn294Thr	rs747483692	missense variant	-	NC_000023.11:g.137567572A>C	ExAC,gnomAD
ZIC3	O60481	p.Asn294Lys	RCV000690871	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567573C>G	ClinVar
ZIC3	O60481	p.Asn294His	rs1290475146	missense variant	-	NC_000023.11:g.137567571A>C	gnomAD
ZIC3	O60481	p.Asn294Ser	rs747483692	missense variant	-	NC_000023.11:g.137567572A>G	ExAC,gnomAD
ZIC3	O60481	p.Val296Ile	NCI-TCGA novel	missense variant	-	chrX:g.137567577G>A	NCI-TCGA
ZIC3	O60481	p.Cys297Arg	NCI-TCGA novel	missense variant	-	chrX:g.137567580T>C	NCI-TCGA
ZIC3	O60481	p.Tyr298Cys	rs1383568560	missense variant	-	NC_000023.11:g.137567584A>G	TOPMed
ZIC3	O60481	p.Trp299Cys	COSM6185426	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567588G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Glu300Asp	COSM4106981	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567591G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Arg304Trp	COSM1465918	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567601C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Arg304GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.137567597C>-	NCI-TCGA
ZIC3	O60481	p.Ser308Ala	rs1486107291	missense variant	-	NC_000023.11:g.137567613T>G	gnomAD
ZIC3	O60481	p.Phe309Leu	COSM4850646	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567618C>G	NCI-TCGA Cosmic
ZIC3	O60481	p.Ala311Thr	COSM4892626	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567622G>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Lys312Asn	NCI-TCGA novel	missense variant	-	chrX:g.137567627G>T	NCI-TCGA
ZIC3	O60481	p.Val316Phe	COSM3558364	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567637G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.His318Asn	VAR_071333	Missense	VACTERL association X-linked with or without hydrocephalus (VACTERLX) [MIM:314390]	-	UniProt
ZIC3	O60481	p.Ile319Thr	rs769915486	missense variant	-	NC_000023.11:g.137567647T>C	ExAC,gnomAD
ZIC3	O60481	p.His322Gln	COSM422214	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567657C>G	NCI-TCGA Cosmic
ZIC3	O60481	p.His322Arg	NCI-TCGA novel	missense variant	-	chrX:g.137567656A>G	NCI-TCGA
ZIC3	O60481	p.Thr323Met	RCV000012186	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567659C>T	ClinVar
ZIC3	O60481	p.Thr323Met	rs122462165	missense variant	-	NC_000023.11:g.137567659C>T	-
ZIC3	O60481	p.Thr323Met	rs122462165	missense variant	-	chrX:g.137567659C>T	NCI-TCGA,NCI-TCGA Cosmic
ZIC3	O60481	p.Lys326Thr	NCI-TCGA novel	missense variant	-	chrX:g.137567668A>C	NCI-TCGA
ZIC3	O60481	p.Pro329HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.137567675C>-	NCI-TCGA
ZIC3	O60481	p.Pro333Thr	COSM1465919	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567688C>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Pro333ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.137567687C>-	NCI-TCGA
ZIC3	O60481	p.Gly334Cys	rs1378858604	missense variant	-	NC_000023.11:g.137567691G>T	gnomAD
ZIC3	O60481	p.Gly336Arg	rs1474420006	missense variant	-	NC_000023.11:g.137567697G>A	gnomAD
ZIC3	O60481	p.Gly336Arg	COSM4106985	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567697G>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Ala340Gly	COSM73375	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567710C>G	NCI-TCGA Cosmic
ZIC3	O60481	p.Arg341His	COSM1115865	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567713G>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Ser342Ter	RCV000371226	frameshift	-	NC_000023.11:g.137567716del	ClinVar
ZIC3	O60481	p.Ile347Val	rs764818979	missense variant	-	NC_000023.11:g.137567730A>G	ExAC,gnomAD
ZIC3	O60481	p.His348Arg	COSM755194	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567734A>G	NCI-TCGA Cosmic
ZIC3	O60481	p.Lys349Arg	rs1301039896	missense variant	-	NC_000023.11:g.137567737A>G	gnomAD
ZIC3	O60481	p.Lys349Arg	COSM4893331	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137567737A>G	NCI-TCGA Cosmic
ZIC3	O60481	p.Arg350Ser	RCV000687841	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137567741G>C	ClinVar
ZIC3	O60481	p.Thr351Ile	NCI-TCGA novel	missense variant	-	chrX:g.137567743C>T	NCI-TCGA
ZIC3	O60481	p.Gly354Cys	NCI-TCGA novel	missense variant	-	chrX:g.137567751G>T	NCI-TCGA
ZIC3	O60481	p.Glu355Gln	rs763662353	missense variant	-	NC_000023.11:g.137568904G>C	ExAC,gnomAD
ZIC3	O60481	p.Glu355Asp	NCI-TCGA novel	missense variant	-	chrX:g.137568906G>T	NCI-TCGA
ZIC3	O60481	p.Pro357Thr	rs1556030199	missense variant	-	NC_000023.11:g.137568910C>A	-
ZIC3	O60481	p.Pro357His	NCI-TCGA novel	missense variant	-	chrX:g.137568911C>A	NCI-TCGA
ZIC3	O60481	p.Pro357Thr	RCV000530572	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137568910C>A	ClinVar
ZIC3	O60481	p.Gly364Cys	NCI-TCGA novel	missense variant	-	chrX:g.137568931G>T	NCI-TCGA
ZIC3	O60481	p.Asp366Gly	rs1412106690	missense variant	-	NC_000023.11:g.137568938A>G	TOPMed
ZIC3	O60481	p.Arg368Cys	NCI-TCGA novel	missense variant	-	chrX:g.137568943C>T	NCI-TCGA
ZIC3	O60481	p.Ala370Val	rs761258496	missense variant	-	NC_000023.11:g.137568950C>T	ExAC,gnomAD
ZIC3	O60481	p.Met379Ile	rs1247091334	missense variant	-	NC_000023.11:g.137568978G>C	gnomAD
ZIC3	O60481	p.His380Asn	NCI-TCGA novel	missense variant	-	chrX:g.137568979C>A	NCI-TCGA
ZIC3	O60481	p.Thr383Asn	rs1348071327	missense variant	-	NC_000023.11:g.137568989C>A	gnomAD
ZIC3	O60481	p.Ser384Leu	COSM1465920	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137568992C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Asp385Glu	rs750905477	missense variant	-	NC_000023.11:g.137568996C>G	ExAC,gnomAD
ZIC3	O60481	p.Lys391Glu	rs756480202	missense variant	-	NC_000023.11:g.137569012A>G	ExAC,gnomAD
ZIC3	O60481	p.Ser396Phe	NCI-TCGA novel	missense variant	-	chrX:g.137569028C>T	NCI-TCGA
ZIC3	O60481	p.Ser401Ile	NCI-TCGA novel	missense variant	-	chrX:g.137569043G>T	NCI-TCGA
ZIC3	O60481	p.Arg404His	COSM1115870	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569052G>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Arg404Cys	COSM1115869	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569051C>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Lys405Glu	rs104894962	missense variant	Heterotaxy, visceral, 1, X-linked (HTX1)	NC_000023.11:g.137569054A>G	UniProt,dbSNP
ZIC3	O60481	p.Lys405Glu	VAR_025635	missense variant	Heterotaxy, visceral, 1, X-linked (HTX1)	NC_000023.11:g.137569054A>G	UniProt
ZIC3	O60481	p.Lys405Glu	rs104894962	missense variant	-	NC_000023.11:g.137569054A>G	-
ZIC3	O60481	p.Lys405Glu	RCV000012191	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137569054A>G	ClinVar
ZIC3	O60481	p.Met407Thr	NCI-TCGA novel	missense variant	-	chrX:g.137569061T>C	NCI-TCGA
ZIC3	O60481	p.Lys408Ter	rs387906498	stop gained	-	NC_000023.11:g.137569063A>T	-
ZIC3	O60481	p.Lys408Ter	RCV000012188	nonsense	Congenital heart defects, multiple types, 1, X-linked (CHTD1)	NC_000023.11:g.137569063A>T	ClinVar
ZIC3	O60481	p.Glu411Ter	COSM5750344	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.137569897G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Ser412Phe	rs754241460	missense variant	-	NC_000023.11:g.137569901C>T	ExAC,gnomAD
ZIC3	O60481	p.Asp416Glu	rs755343529	missense variant	-	NC_000023.11:g.137569914T>G	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Asp416Ala	rs1460274829	missense variant	-	NC_000023.11:g.137569913A>C	TOPMed
ZIC3	O60481	p.Asp416Glu	RCV000640718	missense variant	Heterotaxy, visceral, X-linked (HTX1)	NC_000023.11:g.137569914T>G	ClinVar
ZIC3	O60481	p.Ala421Val	rs752936376	missense variant	-	NC_000023.11:g.137569928C>T	ExAC,gnomAD
ZIC3	O60481	p.Glu426Val	rs758600009	missense variant	-	NC_000023.11:g.137569943A>T	ExAC,gnomAD
ZIC3	O60481	p.Ser427Tyr	NCI-TCGA novel	missense variant	-	chrX:g.137569946C>A	NCI-TCGA
ZIC3	O60481	p.Pro430Thr	COSM1115872	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569954C>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Ala432Thr	rs1466996953	missense variant	-	NC_000023.11:g.137569960G>A	gnomAD
ZIC3	O60481	p.Ala432Thr	NCI-TCGA novel	missense variant	-	chrX:g.137569960G>A	NCI-TCGA
ZIC3	O60481	p.Ile433Val	rs1371648380	missense variant	-	NC_000023.11:g.137569963A>G	gnomAD
ZIC3	O60481	p.Ala434Ser	COSM611101	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569966G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Ala434Val	NCI-TCGA novel	missense variant	-	chrX:g.137569967C>T	NCI-TCGA
ZIC3	O60481	p.Ala434Asp	NCI-TCGA novel	missense variant	-	chrX:g.137569967C>A	NCI-TCGA
ZIC3	O60481	p.Ser435Tyr	NCI-TCGA novel	missense variant	-	chrX:g.137569970C>A	NCI-TCGA
ZIC3	O60481	p.Asn437His	NCI-TCGA novel	missense variant	-	chrX:g.137569975A>C	NCI-TCGA
ZIC3	O60481	p.Asn437Lys	NCI-TCGA novel	missense variant	-	chrX:g.137569977C>G	NCI-TCGA
ZIC3	O60481	p.Asp440Tyr	COSM1465923	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137569984G>T	NCI-TCGA Cosmic
ZIC3	O60481	p.Thr444Pro	rs779799532	missense variant	-	NC_000023.11:g.137569996A>C	ExAC,gnomAD
ZIC3	O60481	p.Ser446Cys	COSM456842	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137570003C>G	NCI-TCGA Cosmic
ZIC3	O60481	p.Ala447Thr	rs749105833	missense variant	-	NC_000023.11:g.137570005G>A	ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Ala447Gly	VAR_071334	Missense	Congenital heart defects, multiple types, 1, X-linked (CHTD1) [MIM:306955]	-	UniProt
ZIC3	O60481	p.Val448Ile	rs375086818	missense variant	-	NC_000023.11:g.137570008G>A	ESP,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Val448Phe	rs375086818	missense variant	-	NC_000023.11:g.137570008G>T	ESP,ExAC,TOPMed,gnomAD
ZIC3	O60481	p.Gln449Lys	rs772780189	missense variant	-	NC_000023.11:g.137570011C>A	ExAC
ZIC3	O60481	p.Gln449His	rs760042281	missense variant	-	NC_000023.11:g.137570013A>T	ExAC
ZIC3	O60481	p.Thr450Pro	rs766929373	missense variant	-	NC_000023.11:g.137570014A>C	ExAC
ZIC3	O60481	p.Thr450Ile	rs776962220	missense variant	-	NC_000023.11:g.137570015C>T	ExAC
ZIC3	O60481	p.Ser451Ile	rs758689938	missense variant	-	NC_000023.11:g.137570018G>T	ExAC,gnomAD
ZIC3	O60481	p.Ser451Thr	rs758689938	missense variant	-	NC_000023.11:g.137570018G>C	ExAC,gnomAD
ZIC3	O60481	p.Ser451Gly	rs1212135973	missense variant	-	NC_000023.11:g.137570017A>G	gnomAD
ZIC3	O60481	p.Thr452Pro	rs199708513	missense variant	-	NC_000023.11:g.137570020A>C	ExAC,gnomAD
ZIC3	O60481	p.Gly457Glu	rs780074821	missense variant	-	NC_000023.11:g.137570036G>A	ExAC,gnomAD
ZIC3	O60481	p.Pro460Thr	NCI-TCGA novel	missense variant	-	chrX:g.137570044C>A	NCI-TCGA
ZIC3	O60481	p.Asn463Lys	COSM4106993	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137570055C>A	NCI-TCGA Cosmic
ZIC3	O60481	p.Trp465Arg	COSM4106994	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.137570059T>C	NCI-TCGA Cosmic
ZIC3	O60481	p.Val467Leu	rs750385251	missense variant	-	NC_000023.11:g.137570065G>C	gnomAD
ZIC3	O60481	p.Val467Ile	rs750385251	missense variant	-	NC_000023.11:g.137570065G>A	gnomAD
GREM1	O60565	p.Arg3Cys	rs768242805	missense variant	-	CHR_HSCHR15_4_CTG8:g.32810992C>T	ExAC,gnomAD
GREM1	O60565	p.Thr4Lys	rs761624816	missense variant	-	CHR_HSCHR15_4_CTG8:g.32810996C>A	ExAC,gnomAD
GREM1	O60565	p.Thr4Ala	rs776296145	missense variant	-	CHR_HSCHR15_4_CTG8:g.32810995A>G	ExAC,gnomAD
GREM1	O60565	p.Tyr6Cys	rs1200762767	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811002A>G	TOPMed,gnomAD
GREM1	O60565	p.Thr7Met	rs1280677560	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811005C>T	gnomAD
GREM1	O60565	p.Val8Met	rs1435968313	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811007G>A	gnomAD
GREM1	O60565	p.Ala10Thr	rs1486980296	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811013G>A	gnomAD
GREM1	O60565	p.Gly16Glu	rs1191361049	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811032G>A	gnomAD
GREM1	O60565	p.Leu19Arg	rs766332214	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811041T>G	ExAC,gnomAD
GREM1	O60565	p.Pro20Gln	rs148668967	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811044C>A	ESP,ExAC,gnomAD
GREM1	O60565	p.Lys26Asn	rs1241168004	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811063G>T	TOPMed
GREM1	O60565	p.Lys26Gln	rs1194984931	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811061A>C	TOPMed
GREM1	O60565	p.Lys26Arg	rs199894051	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811062A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gly28Arg	rs752903637	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811067G>A	ExAC,gnomAD
GREM1	O60565	p.Ser29Tyr	rs1213382228	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811071C>A	TOPMed
GREM1	O60565	p.Ala32Val	rs1401119450	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811080C>T	gnomAD
GREM1	O60565	p.Ile33Phe	rs1345683518	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811082A>T	TOPMed
GREM1	O60565	p.Ile33Thr	rs756565137	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811083T>C	ExAC,gnomAD
GREM1	O60565	p.Pro35Leu	rs779454972	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811089C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Ala	rs111262341	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811088C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Ala	RCV000305327	missense variant	-	NC_000015.10:g.32730793C>G	ClinVar
GREM1	O60565	p.Pro35Gln	rs779454972	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811089C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Ala39Val	rs768170664	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811101C>T	ExAC,gnomAD
GREM1	O60565	p.His41Arg	rs553840621	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811107A>G	1000Genomes,ExAC
GREM1	O60565	p.Asn42Lys	rs1043315001	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811111T>A	TOPMed
GREM1	O60565	p.Asn42Asp	rs1458721312	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811109A>G	gnomAD
GREM1	O60565	p.Asn42Ser	rs945879966	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811110A>G	TOPMed,gnomAD
GREM1	O60565	p.Asp43Asn	rs769422903	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811112G>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu45Gly	rs1200082572	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811119A>G	gnomAD
GREM1	O60565	p.Gln46Leu	rs762082199	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811122A>T	gnomAD
GREM1	O60565	p.Gln46Pro	rs762082199	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811122A>C	gnomAD
GREM1	O60565	p.Thr47Ile	rs545952537	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811125C>T	1000Genomes,ExAC,gnomAD
GREM1	O60565	p.Gln48Leu	rs770819924	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811128A>T	ExAC,gnomAD
GREM1	O60565	p.Gln48His	rs774292923	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811129G>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln48Pro	rs770819924	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811128A>C	ExAC,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811141G>T	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811141G>C	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro53Arg	rs1454389131	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811143C>G	TOPMed
GREM1	O60565	p.Asn57His	rs754206331	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811154A>C	ExAC,gnomAD
GREM1	O60565	p.Asn57His	RCV000417252	missense variant	Hereditary mixed polyposis syndrome	NC_000015.10:g.32730859A>C	ClinVar
GREM1	O60565	p.Arg58Gln	rs1278786063	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811158G>A	gnomAD
GREM1	O60565	p.Arg58Trp	rs1345351965	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811157C>T	gnomAD
GREM1	O60565	p.Gly59Arg	rs1230965844	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811160G>A	gnomAD
GREM1	O60565	p.Gln62Arg	rs779317921	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811170A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg64Trp	rs750874632	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811175C>T	ExAC,gnomAD
GREM1	O60565	p.Pro69Ser	rs1484617645	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811190C>T	TOPMed
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811193G>A	ExAC,gnomAD
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811193G>C	ExAC,gnomAD
GREM1	O60565	p.Glu71Lys	rs1479073274	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811196G>A	gnomAD
GREM1	O60565	p.Ser76Cys	rs777378898	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811212C>G	ExAC,gnomAD
GREM1	O60565	p.Glu79Asp	rs1236578712	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811222G>C	TOPMed
GREM1	O60565	p.Ala80Thr	rs1312888226	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811223G>A	TOPMed
GREM1	O60565	p.His82Arg	rs745880464	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811230A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Thr84Met	rs771903480	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811236C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu85Val	rs764435884	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811239A>T	ExAC,gnomAD
GREM1	O60565	p.Glu85Gly	rs764435884	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811239A>G	ExAC,gnomAD
GREM1	O60565	p.Lys87Glu	rs776954783	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811244A>G	ExAC,gnomAD
GREM1	O60565	p.Tyr88His	rs1340557778	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811247T>C	TOPMed,gnomAD
GREM1	O60565	p.Lys90Arg	rs762087325	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811254A>G	ExAC,gnomAD
GREM1	O60565	p.Lys90Thr	rs762087325	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811254A>C	ExAC,gnomAD
GREM1	O60565	p.Arg91Gln	rs1216397987	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811257G>A	TOPMed,gnomAD
GREM1	O60565	p.Gln101Ter	rs1035305843	stop gained	-	CHR_HSCHR15_4_CTG8:g.32811286C>T	TOPMed
GREM1	O60565	p.Ile103Val	rs370674293	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811292A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.His104Asn	rs759010741	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811295C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gly107Ala	rs752249342	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811305G>C	ExAC,gnomAD
GREM1	O60565	p.Asn109Asp	rs1189656425	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811310A>G	gnomAD
GREM1	O60565	p.Arg111Cys	rs1439294018	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811316C>T	gnomAD
GREM1	O60565	p.Thr112Ile	rs1259486563	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811320C>T	TOPMed
GREM1	O60565	p.Ile113Val	rs755568850	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811322A>G	ExAC,gnomAD
GREM1	O60565	p.Ile114Val	rs1027553263	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811325A>G	TOPMed,gnomAD
GREM1	O60565	p.Asn115Ser	rs367676745	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811329A>G	ESP,ExAC,gnomAD
GREM1	O60565	p.Arg116His	rs756849803	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811332G>A	ExAC,gnomAD
GREM1	O60565	p.Tyr119Ter	rs34096580	stop gained	-	CHR_HSCHR15_4_CTG8:g.32811342C>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro128Arg	rs777005561	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811368C>G	ExAC,gnomAD
GREM1	O60565	p.Arg129Lys	rs762152055	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811371G>A	ExAC,TOPMed
GREM1	O60565	p.His130Tyr	rs1468958267	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811373C>T	gnomAD
GREM1	O60565	p.His130Leu	rs765373204	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811374A>T	ExAC,gnomAD
GREM1	O60565	p.Ile131Val	rs145439767	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811376A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Ile131Ser	rs1233026052	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811377T>G	TOPMed
GREM1	O60565	p.Arg132Gly	rs777740546	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811379C>G	ExAC,gnomAD
GREM1	O60565	p.Arg132Trp	rs777740546	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811379C>T	ExAC,gnomAD
GREM1	O60565	p.Lys133Arg	rs766891324	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811383A>G	ExAC,gnomAD
GREM1	O60565	p.Glu134Lys	rs1202298191	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811385G>A	gnomAD
GREM1	O60565	p.Glu135Lys	rs1354011335	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811388G>A	TOPMed
GREM1	O60565	p.Gln139Arg	rs1457535579	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811401A>G	TOPMed,gnomAD
GREM1	O60565	p.Lys145Arg	rs1382342425	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811419A>G	gnomAD
GREM1	O60565	p.Thr150Ile	rs202104240	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811434C>T	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Val154Ala	rs1467505239	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811446T>C	gnomAD
GREM1	O60565	p.Thr155Ala	rs199760237	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811448A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Leu156Phe	RCV000766181	missense variant	-	NC_000015.10:g.32731156C>T	ClinVar
GREM1	O60565	p.Pro163Leu	rs1446800680	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811473C>T	gnomAD
GREM1	O60565	p.Pro164Ser	rs1332974507	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811475C>T	gnomAD
GREM1	O60565	p.Arg169Thr	rs1458654619	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811491G>C	gnomAD
GREM1	O60565	p.Thr171Ala	rs1162318366	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811496A>G	TOPMed,gnomAD
GREM1	O60565	p.Arg172Leu	rs1256642631	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811500G>T	TOPMed,gnomAD
GREM1	O60565	p.Arg172His	rs1256642631	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811500G>A	TOPMed,gnomAD
GREM1	O60565	p.Arg172Cys	rs748146251	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811499C>T	ExAC,gnomAD
GREM1	O60565	p.Lys174Glu	rs1199299875	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811505A>G	gnomAD
GREM1	O60565	p.Gln175His	rs763336404	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811510G>C	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg177His	rs1190459895	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811515G>A	gnomAD
GREM1	O60565	p.Ile179Val	rs942578260	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811520A>G	TOPMed,gnomAD
GREM1	O60565	p.Ile179Thr	rs368726521	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811521T>C	ESP,TOPMed
GREM1	O60565	p.Asp184His	rs760105878	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811535G>C	ExAC,gnomAD
GREM1	O60565	p.Asp184Gly	rs767985360	missense variant	-	CHR_HSCHR15_4_CTG8:g.32811536A>G	ExAC,gnomAD
GREM1	O60565	p.Arg3Cys	rs768242805	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261437C>T	ExAC,gnomAD
GREM1	O60565	p.Thr4Lys	rs761624816	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261441C>A	ExAC,gnomAD
GREM1	O60565	p.Thr4Ala	rs776296145	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261440A>G	ExAC,gnomAD
GREM1	O60565	p.Tyr6Cys	rs1200762767	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261447A>G	TOPMed,gnomAD
GREM1	O60565	p.Thr7Met	rs1280677560	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261450C>T	gnomAD
GREM1	O60565	p.Val8Met	rs1435968313	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261452G>A	gnomAD
GREM1	O60565	p.Ala10Thr	rs1486980296	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261458G>A	gnomAD
GREM1	O60565	p.Gly16Glu	rs1191361049	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261477G>A	gnomAD
GREM1	O60565	p.Leu19Arg	rs766332214	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261486T>G	ExAC,gnomAD
GREM1	O60565	p.Pro20Gln	rs148668967	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261489C>A	ESP,ExAC,gnomAD
GREM1	O60565	p.Lys26Gln	rs1194984931	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261506A>C	TOPMed
GREM1	O60565	p.Lys26Asn	rs1241168004	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261508G>T	TOPMed
GREM1	O60565	p.Lys26Arg	rs199894051	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261507A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gly28Arg	rs752903637	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261512G>A	ExAC,gnomAD
GREM1	O60565	p.Ser29Tyr	rs1213382228	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261516C>A	TOPMed
GREM1	O60565	p.Ala32Val	rs1401119450	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261525C>T	gnomAD
GREM1	O60565	p.Ile33Phe	rs1345683518	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261527A>T	TOPMed
GREM1	O60565	p.Ile33Thr	rs756565137	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261528T>C	ExAC,gnomAD
GREM1	O60565	p.Pro35Ala	RCV000305327	missense variant	-	NC_000015.10:g.32730793C>G	ClinVar
GREM1	O60565	p.Pro35Leu	rs779454972	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261534C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Gln	rs779454972	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261534C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Ala	rs111262341	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261533C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Ala39Val	rs768170664	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261546C>T	ExAC,gnomAD
GREM1	O60565	p.His41Arg	rs553840621	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261552A>G	1000Genomes,ExAC
GREM1	O60565	p.Asn42Lys	rs1043315001	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261556T>A	TOPMed
GREM1	O60565	p.Asn42Ser	rs945879966	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261555A>G	TOPMed,gnomAD
GREM1	O60565	p.Asn42Asp	rs1458721312	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261554A>G	gnomAD
GREM1	O60565	p.Asp43Asn	rs769422903	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261557G>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu45Gly	rs1200082572	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261564A>G	gnomAD
GREM1	O60565	p.Gln46Leu	rs762082199	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261567A>T	gnomAD
GREM1	O60565	p.Gln46Pro	rs762082199	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261567A>C	gnomAD
GREM1	O60565	p.Thr47Ile	rs545952537	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261570C>T	1000Genomes,ExAC,gnomAD
GREM1	O60565	p.Gln48His	rs774292923	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261574G>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln48Pro	rs770819924	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261573A>C	ExAC,gnomAD
GREM1	O60565	p.Gln48Leu	rs770819924	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261573A>T	ExAC,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261586G>C	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261586G>T	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro53Arg	rs1454389131	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261588C>G	TOPMed
GREM1	O60565	p.Asn57His	RCV000417252	missense variant	Hereditary mixed polyposis syndrome	NC_000015.10:g.32730859A>C	ClinVar
GREM1	O60565	p.Asn57His	rs754206331	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261599A>C	ExAC,gnomAD
GREM1	O60565	p.Arg58Trp	rs1345351965	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261602C>T	gnomAD
GREM1	O60565	p.Arg58Gln	rs1278786063	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261603G>A	gnomAD
GREM1	O60565	p.Gly59Arg	rs1230965844	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261605G>A	gnomAD
GREM1	O60565	p.Gln62Arg	rs779317921	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261615A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg64Trp	rs750874632	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261620C>T	ExAC,gnomAD
GREM1	O60565	p.Pro69Ser	rs1484617645	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261635C>T	TOPMed
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261638G>A	ExAC,gnomAD
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261638G>C	ExAC,gnomAD
GREM1	O60565	p.Glu71Lys	rs1479073274	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261641G>A	gnomAD
GREM1	O60565	p.Ser76Cys	rs777378898	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261657C>G	ExAC,gnomAD
GREM1	O60565	p.Glu79Asp	rs1236578712	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261667G>C	TOPMed
GREM1	O60565	p.Ala80Thr	rs1312888226	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261668G>A	TOPMed
GREM1	O60565	p.His82Arg	rs745880464	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261675A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Thr84Met	rs771903480	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261681C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu85Val	rs764435884	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261684A>T	ExAC,gnomAD
GREM1	O60565	p.Glu85Gly	rs764435884	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261684A>G	ExAC,gnomAD
GREM1	O60565	p.Lys87Glu	rs776954783	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261689A>G	ExAC,gnomAD
GREM1	O60565	p.Tyr88His	rs1340557778	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261692T>C	TOPMed,gnomAD
GREM1	O60565	p.Lys90Thr	rs762087325	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261699A>C	ExAC,gnomAD
GREM1	O60565	p.Lys90Arg	rs762087325	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261699A>G	ExAC,gnomAD
GREM1	O60565	p.Arg91Gln	rs1216397987	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261702G>A	TOPMed,gnomAD
GREM1	O60565	p.Gln101Ter	rs1035305843	stop gained	-	CHR_HSCHR15_6_CTG8:g.32261731C>T	TOPMed
GREM1	O60565	p.Ile103Val	rs370674293	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261737A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.His104Asn	rs759010741	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261740C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gly107Ala	rs752249342	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261750G>C	ExAC,gnomAD
GREM1	O60565	p.Asn109Asp	rs1189656425	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261755A>G	gnomAD
GREM1	O60565	p.Arg111Cys	rs1439294018	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261761C>T	gnomAD
GREM1	O60565	p.Thr112Ile	rs1259486563	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261765C>T	TOPMed
GREM1	O60565	p.Ile113Val	rs755568850	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261767A>G	ExAC,gnomAD
GREM1	O60565	p.Ile114Val	rs1027553263	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261770A>G	TOPMed,gnomAD
GREM1	O60565	p.Asn115Ser	rs367676745	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261774A>G	ESP,ExAC,gnomAD
GREM1	O60565	p.Arg116His	rs756849803	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261777G>A	ExAC,gnomAD
GREM1	O60565	p.Tyr119Ter	rs34096580	stop gained	-	CHR_HSCHR15_6_CTG8:g.32261787C>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro128Arg	rs777005561	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261813C>G	ExAC,gnomAD
GREM1	O60565	p.Arg129Lys	rs762152055	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261816G>A	ExAC,TOPMed
GREM1	O60565	p.His130Leu	rs765373204	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261819A>T	ExAC,gnomAD
GREM1	O60565	p.His130Tyr	rs1468958267	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261818C>T	gnomAD
GREM1	O60565	p.Ile131Val	rs145439767	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261821A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Ile131Ser	rs1233026052	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261822T>G	TOPMed
GREM1	O60565	p.Arg132Gly	rs777740546	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261824C>G	ExAC,gnomAD
GREM1	O60565	p.Arg132Trp	rs777740546	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261824C>T	ExAC,gnomAD
GREM1	O60565	p.Lys133Arg	rs766891324	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261828A>G	ExAC,gnomAD
GREM1	O60565	p.Glu134Lys	rs1202298191	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261830G>A	gnomAD
GREM1	O60565	p.Glu135Lys	rs1354011335	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261833G>A	TOPMed
GREM1	O60565	p.Gln139Arg	rs1457535579	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261846A>G	TOPMed,gnomAD
GREM1	O60565	p.Lys145Arg	rs1382342425	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261864A>G	gnomAD
GREM1	O60565	p.Thr150Ile	rs202104240	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261879C>T	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Val154Ala	rs1467505239	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261891T>C	gnomAD
GREM1	O60565	p.Thr155Ala	rs199760237	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261893A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Leu156Phe	RCV000766181	missense variant	-	NC_000015.10:g.32731156C>T	ClinVar
GREM1	O60565	p.Pro163Leu	rs1446800680	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261918C>T	gnomAD
GREM1	O60565	p.Pro164Ser	rs1332974507	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261920C>T	gnomAD
GREM1	O60565	p.Arg169Thr	rs1458654619	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261936G>C	gnomAD
GREM1	O60565	p.Thr171Ala	rs1162318366	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261941A>G	TOPMed,gnomAD
GREM1	O60565	p.Arg172Cys	rs748146251	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261944C>T	ExAC,gnomAD
GREM1	O60565	p.Arg172His	rs1256642631	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261945G>A	TOPMed,gnomAD
GREM1	O60565	p.Arg172Leu	rs1256642631	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261945G>T	TOPMed,gnomAD
GREM1	O60565	p.Lys174Glu	rs1199299875	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261950A>G	gnomAD
GREM1	O60565	p.Gln175His	rs763336404	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261955G>C	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg177His	rs1190459895	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261960G>A	gnomAD
GREM1	O60565	p.Ile179Thr	rs368726521	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261966T>C	ESP,TOPMed
GREM1	O60565	p.Ile179Val	rs942578260	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261965A>G	TOPMed,gnomAD
GREM1	O60565	p.Asp184Gly	rs767985360	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261981A>G	ExAC,gnomAD
GREM1	O60565	p.Asp184His	rs760105878	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261980G>C	ExAC,gnomAD
GREM1	O60565	p.Arg3Cys	rs768242805	missense variant	-	NC_000015.10:g.32730697C>T	ExAC,gnomAD
GREM1	O60565	p.Thr4Ala	rs776296145	missense variant	-	NC_000015.10:g.32730700A>G	ExAC,gnomAD
GREM1	O60565	p.Thr4Lys	rs761624816	missense variant	-	NC_000015.10:g.32730701C>A	ExAC,gnomAD
GREM1	O60565	p.Tyr6Cys	rs1200762767	missense variant	-	NC_000015.10:g.32730707A>G	TOPMed,gnomAD
GREM1	O60565	p.Thr7Met	rs1280677560	missense variant	-	NC_000015.10:g.32730710C>T	gnomAD
GREM1	O60565	p.Val8Met	rs1435968313	missense variant	-	NC_000015.10:g.32730712G>A	gnomAD
GREM1	O60565	p.Ala10Thr	rs1486980296	missense variant	-	NC_000015.10:g.32730718G>A	gnomAD
GREM1	O60565	p.Gly16Glu	rs1191361049	missense variant	-	NC_000015.10:g.32730737G>A	gnomAD
GREM1	O60565	p.Leu19Arg	rs766332214	missense variant	-	NC_000015.10:g.32730746T>G	ExAC,gnomAD
GREM1	O60565	p.Pro20Gln	rs148668967	missense variant	-	NC_000015.10:g.32730749C>A	ESP,ExAC,gnomAD
GREM1	O60565	p.Lys26Arg	rs199894051	missense variant	-	NC_000015.10:g.32730767A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Lys26Asn	rs1241168004	missense variant	-	NC_000015.10:g.32730768G>T	TOPMed
GREM1	O60565	p.Lys26Gln	rs1194984931	missense variant	-	NC_000015.10:g.32730766A>C	TOPMed
GREM1	O60565	p.Gly28Arg	rs752903637	missense variant	-	NC_000015.10:g.32730772G>A	ExAC,gnomAD
GREM1	O60565	p.Ser29Tyr	rs1213382228	missense variant	-	NC_000015.10:g.32730776C>A	TOPMed
GREM1	O60565	p.Ala32Val	rs1401119450	missense variant	-	NC_000015.10:g.32730785C>T	gnomAD
GREM1	O60565	p.Ile33Phe	rs1345683518	missense variant	-	NC_000015.10:g.32730787A>T	TOPMed
GREM1	O60565	p.Ile33Thr	rs756565137	missense variant	-	NC_000015.10:g.32730788T>C	ExAC,gnomAD
GREM1	O60565	p.Pro35Leu	rs779454972	missense variant	-	NC_000015.10:g.32730794C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Ala	RCV000305327	missense variant	-	NC_000015.10:g.32730793C>G	ClinVar
GREM1	O60565	p.Pro35Ala	rs111262341	missense variant	-	NC_000015.10:g.32730793C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Gln	rs779454972	missense variant	-	NC_000015.10:g.32730794C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Ala39Val	rs768170664	missense variant	-	NC_000015.10:g.32730806C>T	ExAC,gnomAD
GREM1	O60565	p.His41Arg	rs553840621	missense variant	-	NC_000015.10:g.32730812A>G	1000Genomes,ExAC
GREM1	O60565	p.Asn42Lys	rs1043315001	missense variant	-	NC_000015.10:g.32730816T>A	TOPMed
GREM1	O60565	p.Asn42Ser	rs945879966	missense variant	-	NC_000015.10:g.32730815A>G	TOPMed,gnomAD
GREM1	O60565	p.Asn42Asp	rs1458721312	missense variant	-	NC_000015.10:g.32730814A>G	gnomAD
GREM1	O60565	p.Asp43Asn	rs769422903	missense variant	-	NC_000015.10:g.32730817G>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu45Gly	rs1200082572	missense variant	-	NC_000015.10:g.32730824A>G	gnomAD
GREM1	O60565	p.Gln46Leu	rs762082199	missense variant	-	NC_000015.10:g.32730827A>T	gnomAD
GREM1	O60565	p.Gln46Pro	rs762082199	missense variant	-	NC_000015.10:g.32730827A>C	gnomAD
GREM1	O60565	p.Thr47Ile	rs545952537	missense variant	-	NC_000015.10:g.32730830C>T	1000Genomes,ExAC,gnomAD
GREM1	O60565	p.Gln48His	rs774292923	missense variant	-	NC_000015.10:g.32730834G>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln48Pro	rs770819924	missense variant	-	NC_000015.10:g.32730833A>C	ExAC,gnomAD
GREM1	O60565	p.Gln48Leu	rs770819924	missense variant	-	NC_000015.10:g.32730833A>T	ExAC,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	NC_000015.10:g.32730846G>C	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	NC_000015.10:g.32730846G>T	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro53Arg	rs1454389131	missense variant	-	NC_000015.10:g.32730848C>G	TOPMed
GREM1	O60565	p.Asn57His	rs754206331	missense variant	-	NC_000015.10:g.32730859A>C	ExAC,gnomAD
GREM1	O60565	p.Asn57His	RCV000417252	missense variant	Hereditary mixed polyposis syndrome	NC_000015.10:g.32730859A>C	ClinVar
GREM1	O60565	p.Arg58Gln	rs1278786063	missense variant	-	NC_000015.10:g.32730863G>A	gnomAD
GREM1	O60565	p.Arg58Trp	rs1345351965	missense variant	-	NC_000015.10:g.32730862C>T	gnomAD
GREM1	O60565	p.Gly59Arg	rs1230965844	missense variant	-	NC_000015.10:g.32730865G>A	gnomAD
GREM1	O60565	p.Gln62Arg	rs779317921	missense variant	-	NC_000015.10:g.32730875A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg64Trp	rs750874632	missense variant	-	NC_000015.10:g.32730880C>T	ExAC,gnomAD
GREM1	O60565	p.Pro69Ser	rs1484617645	missense variant	-	NC_000015.10:g.32730895C>T	TOPMed
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	NC_000015.10:g.32730898G>A	ExAC,gnomAD
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	NC_000015.10:g.32730898G>C	ExAC,gnomAD
GREM1	O60565	p.Glu71Lys	rs1479073274	missense variant	-	NC_000015.10:g.32730901G>A	gnomAD
GREM1	O60565	p.Ser76Cys	rs777378898	missense variant	-	NC_000015.10:g.32730917C>G	ExAC,gnomAD
GREM1	O60565	p.Glu79Asp	rs1236578712	missense variant	-	NC_000015.10:g.32730927G>C	TOPMed
GREM1	O60565	p.Ala80Thr	rs1312888226	missense variant	-	NC_000015.10:g.32730928G>A	TOPMed
GREM1	O60565	p.His82Arg	rs745880464	missense variant	-	NC_000015.10:g.32730935A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Thr84Met	rs771903480	missense variant	-	NC_000015.10:g.32730941C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu85Gly	rs764435884	missense variant	-	NC_000015.10:g.32730944A>G	ExAC,gnomAD
GREM1	O60565	p.Glu85Val	rs764435884	missense variant	-	NC_000015.10:g.32730944A>T	ExAC,gnomAD
GREM1	O60565	p.Lys87Glu	rs776954783	missense variant	-	NC_000015.10:g.32730949A>G	ExAC,gnomAD
GREM1	O60565	p.Tyr88His	rs1340557778	missense variant	-	NC_000015.10:g.32730952T>C	TOPMed,gnomAD
GREM1	O60565	p.Lys90Thr	rs762087325	missense variant	-	NC_000015.10:g.32730959A>C	ExAC,gnomAD
GREM1	O60565	p.Lys90Arg	rs762087325	missense variant	-	NC_000015.10:g.32730959A>G	ExAC,gnomAD
GREM1	O60565	p.Arg91Gln	rs1216397987	missense variant	-	NC_000015.10:g.32730962G>A	TOPMed,gnomAD
GREM1	O60565	p.Gln101Ter	rs1035305843	stop gained	-	NC_000015.10:g.32730991C>T	TOPMed
GREM1	O60565	p.Ile103Val	rs370674293	missense variant	-	NC_000015.10:g.32730997A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.His104Asn	rs759010741	missense variant	-	NC_000015.10:g.32731000C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gly107Ala	rs752249342	missense variant	-	NC_000015.10:g.32731010G>C	ExAC,gnomAD
GREM1	O60565	p.Asn109Asp	rs1189656425	missense variant	-	NC_000015.10:g.32731015A>G	gnomAD
GREM1	O60565	p.Arg111Cys	rs1439294018	missense variant	-	NC_000015.10:g.32731021C>T	gnomAD
GREM1	O60565	p.Thr112Ile	rs1259486563	missense variant	-	NC_000015.10:g.32731025C>T	TOPMed
GREM1	O60565	p.Ile113Val	rs755568850	missense variant	-	NC_000015.10:g.32731027A>G	ExAC,gnomAD
GREM1	O60565	p.Ile114Val	rs1027553263	missense variant	-	NC_000015.10:g.32731030A>G	TOPMed,gnomAD
GREM1	O60565	p.Asn115Ser	rs367676745	missense variant	-	NC_000015.10:g.32731034A>G	ESP,ExAC,gnomAD
GREM1	O60565	p.Arg116His	rs756849803	missense variant	-	NC_000015.10:g.32731037G>A	ExAC,gnomAD
GREM1	O60565	p.Tyr119Ter	rs34096580	stop gained	-	NC_000015.10:g.32731047C>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro128Arg	rs777005561	missense variant	-	NC_000015.10:g.32731073C>G	ExAC,gnomAD
GREM1	O60565	p.Arg129Lys	rs762152055	missense variant	-	NC_000015.10:g.32731076G>A	ExAC,TOPMed
GREM1	O60565	p.His130Leu	rs765373204	missense variant	-	NC_000015.10:g.32731079A>T	ExAC,gnomAD
GREM1	O60565	p.His130Tyr	rs1468958267	missense variant	-	NC_000015.10:g.32731078C>T	gnomAD
GREM1	O60565	p.Ile131Ser	rs1233026052	missense variant	-	NC_000015.10:g.32731082T>G	TOPMed
GREM1	O60565	p.Ile131Val	rs145439767	missense variant	-	NC_000015.10:g.32731081A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg132Trp	rs777740546	missense variant	-	NC_000015.10:g.32731084C>T	ExAC,gnomAD
GREM1	O60565	p.Arg132Gly	rs777740546	missense variant	-	NC_000015.10:g.32731084C>G	ExAC,gnomAD
GREM1	O60565	p.Lys133Arg	rs766891324	missense variant	-	NC_000015.10:g.32731088A>G	ExAC,gnomAD
GREM1	O60565	p.Glu134Lys	rs1202298191	missense variant	-	NC_000015.10:g.32731090G>A	gnomAD
GREM1	O60565	p.Glu135Lys	rs1354011335	missense variant	-	NC_000015.10:g.32731093G>A	TOPMed
GREM1	O60565	p.Gln139Arg	rs1457535579	missense variant	-	NC_000015.10:g.32731106A>G	TOPMed,gnomAD
GREM1	O60565	p.Lys145Arg	rs1382342425	missense variant	-	NC_000015.10:g.32731124A>G	gnomAD
GREM1	O60565	p.Thr150Ile	rs202104240	missense variant	-	NC_000015.10:g.32731139C>T	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Val154Ala	rs1467505239	missense variant	-	NC_000015.10:g.32731151T>C	gnomAD
GREM1	O60565	p.Thr155Ala	rs199760237	missense variant	-	NC_000015.10:g.32731153A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Leu156Phe	RCV000766181	missense variant	-	NC_000015.10:g.32731156C>T	ClinVar
GREM1	O60565	p.Pro163Leu	rs1446800680	missense variant	-	NC_000015.10:g.32731178C>T	gnomAD
GREM1	O60565	p.Pro164Ser	rs1332974507	missense variant	-	NC_000015.10:g.32731180C>T	gnomAD
GREM1	O60565	p.Arg169Thr	rs1458654619	missense variant	-	NC_000015.10:g.32731196G>C	gnomAD
GREM1	O60565	p.Thr171Ala	rs1162318366	missense variant	-	NC_000015.10:g.32731201A>G	TOPMed,gnomAD
GREM1	O60565	p.Arg172Cys	rs748146251	missense variant	-	NC_000015.10:g.32731204C>T	ExAC,gnomAD
GREM1	O60565	p.Arg172His	rs1256642631	missense variant	-	NC_000015.10:g.32731205G>A	TOPMed,gnomAD
GREM1	O60565	p.Arg172Leu	rs1256642631	missense variant	-	NC_000015.10:g.32731205G>T	TOPMed,gnomAD
GREM1	O60565	p.Lys174Glu	rs1199299875	missense variant	-	NC_000015.10:g.32731210A>G	gnomAD
GREM1	O60565	p.Gln175His	rs763336404	missense variant	-	NC_000015.10:g.32731215G>C	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg177His	rs1190459895	missense variant	-	NC_000015.10:g.32731220G>A	gnomAD
GREM1	O60565	p.Ile179Val	rs942578260	missense variant	-	NC_000015.10:g.32731225A>G	TOPMed,gnomAD
GREM1	O60565	p.Ile179Thr	rs368726521	missense variant	-	NC_000015.10:g.32731226T>C	ESP,TOPMed
GREM1	O60565	p.Asp184His	rs760105878	missense variant	-	NC_000015.10:g.32731240G>C	ExAC,gnomAD
GREM1	O60565	p.Asp184Gly	rs767985360	missense variant	-	NC_000015.10:g.32731241A>G	ExAC,gnomAD
GREM1	O60565	p.Arg3Cys	rs768242805	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261437C>T	ExAC,gnomAD
GREM1	O60565	p.Thr4Lys	rs761624816	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261441C>A	ExAC,gnomAD
GREM1	O60565	p.Thr4Ala	rs776296145	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261440A>G	ExAC,gnomAD
GREM1	O60565	p.Tyr6Cys	rs1200762767	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261447A>G	TOPMed,gnomAD
GREM1	O60565	p.Thr7Met	rs1280677560	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261450C>T	gnomAD
GREM1	O60565	p.Val8Met	rs1435968313	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261452G>A	gnomAD
GREM1	O60565	p.Ala10Thr	rs1486980296	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261458G>A	gnomAD
GREM1	O60565	p.Gly16Glu	rs1191361049	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261477G>A	gnomAD
GREM1	O60565	p.Leu19Arg	rs766332214	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261486T>G	ExAC,gnomAD
GREM1	O60565	p.Pro20Gln	rs148668967	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261489C>A	ESP,ExAC,gnomAD
GREM1	O60565	p.Lys26Arg	rs199894051	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261507A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Lys26Gln	rs1194984931	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261506A>C	TOPMed
GREM1	O60565	p.Lys26Asn	rs1241168004	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261508G>T	TOPMed
GREM1	O60565	p.Gly28Arg	rs752903637	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261512G>A	ExAC,gnomAD
GREM1	O60565	p.Ser29Tyr	rs1213382228	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261516C>A	TOPMed
GREM1	O60565	p.Ala32Val	rs1401119450	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261525C>T	gnomAD
GREM1	O60565	p.Ile33Thr	rs756565137	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261528T>C	ExAC,gnomAD
GREM1	O60565	p.Ile33Phe	rs1345683518	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261527A>T	TOPMed
GREM1	O60565	p.Pro35Ala	RCV000305327	missense variant	-	NC_000015.10:g.32730793C>G	ClinVar
GREM1	O60565	p.Pro35Ala	rs111262341	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261533C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Leu	rs779454972	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261534C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Gln	rs779454972	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261534C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Ala39Val	rs768170664	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261546C>T	ExAC,gnomAD
GREM1	O60565	p.His41Arg	rs553840621	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261552A>G	1000Genomes,ExAC
GREM1	O60565	p.Asn42Asp	rs1458721312	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261554A>G	gnomAD
GREM1	O60565	p.Asn42Ser	rs945879966	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261555A>G	TOPMed,gnomAD
GREM1	O60565	p.Asn42Lys	rs1043315001	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261556T>A	TOPMed
GREM1	O60565	p.Asp43Asn	rs769422903	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261557G>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu45Gly	rs1200082572	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261564A>G	gnomAD
GREM1	O60565	p.Gln46Leu	rs762082199	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261567A>T	gnomAD
GREM1	O60565	p.Gln46Pro	rs762082199	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261567A>C	gnomAD
GREM1	O60565	p.Thr47Ile	rs545952537	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261570C>T	1000Genomes,ExAC,gnomAD
GREM1	O60565	p.Gln48His	rs774292923	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261574G>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln48Leu	rs770819924	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261573A>T	ExAC,gnomAD
GREM1	O60565	p.Gln48Pro	rs770819924	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261573A>C	ExAC,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261586G>T	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261586G>C	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro53Arg	rs1454389131	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261588C>G	TOPMed
GREM1	O60565	p.Asn57His	rs754206331	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261599A>C	ExAC,gnomAD
GREM1	O60565	p.Asn57His	RCV000417252	missense variant	Hereditary mixed polyposis syndrome	NC_000015.10:g.32730859A>C	ClinVar
GREM1	O60565	p.Arg58Trp	rs1345351965	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261602C>T	gnomAD
GREM1	O60565	p.Arg58Gln	rs1278786063	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261603G>A	gnomAD
GREM1	O60565	p.Gly59Arg	rs1230965844	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261605G>A	gnomAD
GREM1	O60565	p.Gln62Arg	rs779317921	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261615A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg64Trp	rs750874632	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261620C>T	ExAC,gnomAD
GREM1	O60565	p.Pro69Ser	rs1484617645	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261635C>T	TOPMed
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261638G>C	ExAC,gnomAD
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261638G>A	ExAC,gnomAD
GREM1	O60565	p.Glu71Lys	rs1479073274	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261641G>A	gnomAD
GREM1	O60565	p.Ser76Cys	rs777378898	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261657C>G	ExAC,gnomAD
GREM1	O60565	p.Glu79Asp	rs1236578712	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261667G>C	TOPMed
GREM1	O60565	p.Ala80Thr	rs1312888226	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261668G>A	TOPMed
GREM1	O60565	p.His82Arg	rs745880464	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261675A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Thr84Met	rs771903480	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261681C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu85Gly	rs764435884	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261684A>G	ExAC,gnomAD
GREM1	O60565	p.Glu85Val	rs764435884	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261684A>T	ExAC,gnomAD
GREM1	O60565	p.Lys87Glu	rs776954783	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261689A>G	ExAC,gnomAD
GREM1	O60565	p.Tyr88His	rs1340557778	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261692T>C	TOPMed,gnomAD
GREM1	O60565	p.Lys90Arg	rs762087325	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261699A>G	ExAC,gnomAD
GREM1	O60565	p.Lys90Thr	rs762087325	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261699A>C	ExAC,gnomAD
GREM1	O60565	p.Arg91Gln	rs1216397987	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261702G>A	TOPMed,gnomAD
GREM1	O60565	p.Gln101Ter	rs1035305843	stop gained	-	CHR_HSCHR15_6_CTG8:g.32261731C>T	TOPMed
GREM1	O60565	p.Ile103Val	rs370674293	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261737A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.His104Asn	rs759010741	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261740C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gly107Ala	rs752249342	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261750G>C	ExAC,gnomAD
GREM1	O60565	p.Asn109Asp	rs1189656425	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261755A>G	gnomAD
GREM1	O60565	p.Arg111Cys	rs1439294018	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261761C>T	gnomAD
GREM1	O60565	p.Thr112Ile	rs1259486563	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261765C>T	TOPMed
GREM1	O60565	p.Ile113Val	rs755568850	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261767A>G	ExAC,gnomAD
GREM1	O60565	p.Ile114Val	rs1027553263	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261770A>G	TOPMed,gnomAD
GREM1	O60565	p.Asn115Ser	rs367676745	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261774A>G	ESP,ExAC,gnomAD
GREM1	O60565	p.Arg116His	rs756849803	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261777G>A	ExAC,gnomAD
GREM1	O60565	p.Tyr119Ter	rs34096580	stop gained	-	CHR_HSCHR15_6_CTG8:g.32261787C>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro128Arg	rs777005561	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261813C>G	ExAC,gnomAD
GREM1	O60565	p.Arg129Lys	rs762152055	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261816G>A	ExAC,TOPMed
GREM1	O60565	p.His130Tyr	rs1468958267	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261818C>T	gnomAD
GREM1	O60565	p.His130Leu	rs765373204	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261819A>T	ExAC,gnomAD
GREM1	O60565	p.Ile131Val	rs145439767	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261821A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Ile131Ser	rs1233026052	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261822T>G	TOPMed
GREM1	O60565	p.Arg132Trp	rs777740546	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261824C>T	ExAC,gnomAD
GREM1	O60565	p.Arg132Gly	rs777740546	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261824C>G	ExAC,gnomAD
GREM1	O60565	p.Lys133Arg	rs766891324	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261828A>G	ExAC,gnomAD
GREM1	O60565	p.Glu134Lys	rs1202298191	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261830G>A	gnomAD
GREM1	O60565	p.Glu135Lys	rs1354011335	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261833G>A	TOPMed
GREM1	O60565	p.Gln139Arg	rs1457535579	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261846A>G	TOPMed,gnomAD
GREM1	O60565	p.Lys145Arg	rs1382342425	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261864A>G	gnomAD
GREM1	O60565	p.Thr150Ile	rs202104240	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261879C>T	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Val154Ala	rs1467505239	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261891T>C	gnomAD
GREM1	O60565	p.Thr155Ala	rs199760237	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261893A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Leu156Phe	RCV000766181	missense variant	-	NC_000015.10:g.32731156C>T	ClinVar
GREM1	O60565	p.Pro163Leu	rs1446800680	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261918C>T	gnomAD
GREM1	O60565	p.Pro164Ser	rs1332974507	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261920C>T	gnomAD
GREM1	O60565	p.Arg169Thr	rs1458654619	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261936G>C	gnomAD
GREM1	O60565	p.Thr171Ala	rs1162318366	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261941A>G	TOPMed,gnomAD
GREM1	O60565	p.Arg172Leu	rs1256642631	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261945G>T	TOPMed,gnomAD
GREM1	O60565	p.Arg172His	rs1256642631	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261945G>A	TOPMed,gnomAD
GREM1	O60565	p.Arg172Cys	rs748146251	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261944C>T	ExAC,gnomAD
GREM1	O60565	p.Lys174Glu	rs1199299875	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261950A>G	gnomAD
GREM1	O60565	p.Gln175His	rs763336404	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261955G>C	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg177His	rs1190459895	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261960G>A	gnomAD
GREM1	O60565	p.Ile179Thr	rs368726521	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261966T>C	ESP,TOPMed
GREM1	O60565	p.Ile179Val	rs942578260	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261965A>G	TOPMed,gnomAD
GREM1	O60565	p.Asp184His	rs760105878	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261980G>C	ExAC,gnomAD
GREM1	O60565	p.Asp184Gly	rs767985360	missense variant	-	CHR_HSCHR15_6_CTG8:g.32261981A>G	ExAC,gnomAD
GREM1	O60565	p.Arg3Cys	rs768242805	missense variant	-	NC_000015.10:g.32730697C>T	ExAC,gnomAD
GREM1	O60565	p.Thr4Ala	rs776296145	missense variant	-	NC_000015.10:g.32730700A>G	ExAC,gnomAD
GREM1	O60565	p.Thr4Lys	rs761624816	missense variant	-	NC_000015.10:g.32730701C>A	ExAC,gnomAD
GREM1	O60565	p.Tyr6Cys	rs1200762767	missense variant	-	NC_000015.10:g.32730707A>G	TOPMed,gnomAD
GREM1	O60565	p.Thr7Met	rs1280677560	missense variant	-	NC_000015.10:g.32730710C>T	gnomAD
GREM1	O60565	p.Val8Met	rs1435968313	missense variant	-	NC_000015.10:g.32730712G>A	gnomAD
GREM1	O60565	p.Ala10Thr	rs1486980296	missense variant	-	NC_000015.10:g.32730718G>A	gnomAD
GREM1	O60565	p.Gly16Glu	rs1191361049	missense variant	-	NC_000015.10:g.32730737G>A	gnomAD
GREM1	O60565	p.Leu19Arg	rs766332214	missense variant	-	NC_000015.10:g.32730746T>G	ExAC,gnomAD
GREM1	O60565	p.Pro20Gln	rs148668967	missense variant	-	NC_000015.10:g.32730749C>A	ESP,ExAC,gnomAD
GREM1	O60565	p.Lys26Arg	rs199894051	missense variant	-	NC_000015.10:g.32730767A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Lys26Gln	rs1194984931	missense variant	-	NC_000015.10:g.32730766A>C	TOPMed
GREM1	O60565	p.Lys26Asn	rs1241168004	missense variant	-	NC_000015.10:g.32730768G>T	TOPMed
GREM1	O60565	p.Gly28Arg	rs752903637	missense variant	-	NC_000015.10:g.32730772G>A	ExAC,gnomAD
GREM1	O60565	p.Ser29Tyr	rs1213382228	missense variant	-	NC_000015.10:g.32730776C>A	TOPMed
GREM1	O60565	p.Ala32Val	rs1401119450	missense variant	-	NC_000015.10:g.32730785C>T	gnomAD
GREM1	O60565	p.Ile33Thr	rs756565137	missense variant	-	NC_000015.10:g.32730788T>C	ExAC,gnomAD
GREM1	O60565	p.Ile33Phe	rs1345683518	missense variant	-	NC_000015.10:g.32730787A>T	TOPMed
GREM1	O60565	p.Pro35Gln	rs779454972	missense variant	-	NC_000015.10:g.32730794C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Ala	rs111262341	missense variant	-	NC_000015.10:g.32730793C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro35Ala	RCV000305327	missense variant	-	NC_000015.10:g.32730793C>G	ClinVar
GREM1	O60565	p.Pro35Leu	rs779454972	missense variant	-	NC_000015.10:g.32730794C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Ala39Val	rs768170664	missense variant	-	NC_000015.10:g.32730806C>T	ExAC,gnomAD
GREM1	O60565	p.His41Arg	rs553840621	missense variant	-	NC_000015.10:g.32730812A>G	1000Genomes,ExAC
GREM1	O60565	p.Asn42Asp	rs1458721312	missense variant	-	NC_000015.10:g.32730814A>G	gnomAD
GREM1	O60565	p.Asn42Ser	rs945879966	missense variant	-	NC_000015.10:g.32730815A>G	TOPMed,gnomAD
GREM1	O60565	p.Asn42Lys	rs1043315001	missense variant	-	NC_000015.10:g.32730816T>A	TOPMed
GREM1	O60565	p.Asp43Asn	rs769422903	missense variant	-	NC_000015.10:g.32730817G>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu45Gly	rs1200082572	missense variant	-	NC_000015.10:g.32730824A>G	gnomAD
GREM1	O60565	p.Gln46Leu	rs762082199	missense variant	-	NC_000015.10:g.32730827A>T	gnomAD
GREM1	O60565	p.Gln46Pro	rs762082199	missense variant	-	NC_000015.10:g.32730827A>C	gnomAD
GREM1	O60565	p.Thr47Ile	rs545952537	missense variant	-	NC_000015.10:g.32730830C>T	1000Genomes,ExAC,gnomAD
GREM1	O60565	p.Gln48His	rs774292923	missense variant	-	NC_000015.10:g.32730834G>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln48Pro	rs770819924	missense variant	-	NC_000015.10:g.32730833A>C	ExAC,gnomAD
GREM1	O60565	p.Gln48Leu	rs770819924	missense variant	-	NC_000015.10:g.32730833A>T	ExAC,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	NC_000015.10:g.32730846G>T	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gln52His	rs200285291	missense variant	-	NC_000015.10:g.32730846G>C	1000Genomes,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro53Arg	rs1454389131	missense variant	-	NC_000015.10:g.32730848C>G	TOPMed
GREM1	O60565	p.Asn57His	rs754206331	missense variant	-	NC_000015.10:g.32730859A>C	ExAC,gnomAD
GREM1	O60565	p.Asn57His	RCV000417252	missense variant	Hereditary mixed polyposis syndrome	NC_000015.10:g.32730859A>C	ClinVar
GREM1	O60565	p.Arg58Trp	rs1345351965	missense variant	-	NC_000015.10:g.32730862C>T	gnomAD
GREM1	O60565	p.Arg58Gln	rs1278786063	missense variant	-	NC_000015.10:g.32730863G>A	gnomAD
GREM1	O60565	p.Gly59Arg	rs1230965844	missense variant	-	NC_000015.10:g.32730865G>A	gnomAD
GREM1	O60565	p.Gln62Arg	rs779317921	missense variant	-	NC_000015.10:g.32730875A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg64Trp	rs750874632	missense variant	-	NC_000015.10:g.32730880C>T	ExAC,gnomAD
GREM1	O60565	p.Pro69Ser	rs1484617645	missense variant	-	NC_000015.10:g.32730895C>T	TOPMed
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	NC_000015.10:g.32730898G>C	ExAC,gnomAD
GREM1	O60565	p.Gly70Arg	rs747649135	missense variant	-	NC_000015.10:g.32730898G>A	ExAC,gnomAD
GREM1	O60565	p.Glu71Lys	rs1479073274	missense variant	-	NC_000015.10:g.32730901G>A	gnomAD
GREM1	O60565	p.Ser76Cys	rs777378898	missense variant	-	NC_000015.10:g.32730917C>G	ExAC,gnomAD
GREM1	O60565	p.Glu79Asp	rs1236578712	missense variant	-	NC_000015.10:g.32730927G>C	TOPMed
GREM1	O60565	p.Ala80Thr	rs1312888226	missense variant	-	NC_000015.10:g.32730928G>A	TOPMed
GREM1	O60565	p.His82Arg	rs745880464	missense variant	-	NC_000015.10:g.32730935A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Thr84Met	rs771903480	missense variant	-	NC_000015.10:g.32730941C>T	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Glu85Val	rs764435884	missense variant	-	NC_000015.10:g.32730944A>T	ExAC,gnomAD
GREM1	O60565	p.Glu85Gly	rs764435884	missense variant	-	NC_000015.10:g.32730944A>G	ExAC,gnomAD
GREM1	O60565	p.Lys87Glu	rs776954783	missense variant	-	NC_000015.10:g.32730949A>G	ExAC,gnomAD
GREM1	O60565	p.Tyr88His	rs1340557778	missense variant	-	NC_000015.10:g.32730952T>C	TOPMed,gnomAD
GREM1	O60565	p.Lys90Arg	rs762087325	missense variant	-	NC_000015.10:g.32730959A>G	ExAC,gnomAD
GREM1	O60565	p.Lys90Thr	rs762087325	missense variant	-	NC_000015.10:g.32730959A>C	ExAC,gnomAD
GREM1	O60565	p.Arg91Gln	rs1216397987	missense variant	-	NC_000015.10:g.32730962G>A	TOPMed,gnomAD
GREM1	O60565	p.Gln101Ter	rs1035305843	stop gained	-	NC_000015.10:g.32730991C>T	TOPMed
GREM1	O60565	p.Ile103Val	rs370674293	missense variant	-	NC_000015.10:g.32730997A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.His104Asn	rs759010741	missense variant	-	NC_000015.10:g.32731000C>A	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Gly107Ala	rs752249342	missense variant	-	NC_000015.10:g.32731010G>C	ExAC,gnomAD
GREM1	O60565	p.Asn109Asp	rs1189656425	missense variant	-	NC_000015.10:g.32731015A>G	gnomAD
GREM1	O60565	p.Arg111Cys	rs1439294018	missense variant	-	NC_000015.10:g.32731021C>T	gnomAD
GREM1	O60565	p.Thr112Ile	rs1259486563	missense variant	-	NC_000015.10:g.32731025C>T	TOPMed
GREM1	O60565	p.Ile113Val	rs755568850	missense variant	-	NC_000015.10:g.32731027A>G	ExAC,gnomAD
GREM1	O60565	p.Ile114Val	rs1027553263	missense variant	-	NC_000015.10:g.32731030A>G	TOPMed,gnomAD
GREM1	O60565	p.Asn115Ser	rs367676745	missense variant	-	NC_000015.10:g.32731034A>G	ESP,ExAC,gnomAD
GREM1	O60565	p.Arg116His	rs756849803	missense variant	-	NC_000015.10:g.32731037G>A	ExAC,gnomAD
GREM1	O60565	p.Tyr119Ter	rs34096580	stop gained	-	NC_000015.10:g.32731047C>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Pro128Arg	rs777005561	missense variant	-	NC_000015.10:g.32731073C>G	ExAC,gnomAD
GREM1	O60565	p.Arg129Lys	rs762152055	missense variant	-	NC_000015.10:g.32731076G>A	ExAC,TOPMed
GREM1	O60565	p.His130Tyr	rs1468958267	missense variant	-	NC_000015.10:g.32731078C>T	gnomAD
GREM1	O60565	p.His130Leu	rs765373204	missense variant	-	NC_000015.10:g.32731079A>T	ExAC,gnomAD
GREM1	O60565	p.Ile131Val	rs145439767	missense variant	-	NC_000015.10:g.32731081A>G	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Ile131Ser	rs1233026052	missense variant	-	NC_000015.10:g.32731082T>G	TOPMed
GREM1	O60565	p.Arg132Trp	rs777740546	missense variant	-	NC_000015.10:g.32731084C>T	ExAC,gnomAD
GREM1	O60565	p.Arg132Gly	rs777740546	missense variant	-	NC_000015.10:g.32731084C>G	ExAC,gnomAD
GREM1	O60565	p.Lys133Arg	rs766891324	missense variant	-	NC_000015.10:g.32731088A>G	ExAC,gnomAD
GREM1	O60565	p.Glu134Lys	rs1202298191	missense variant	-	NC_000015.10:g.32731090G>A	gnomAD
GREM1	O60565	p.Glu135Lys	rs1354011335	missense variant	-	NC_000015.10:g.32731093G>A	TOPMed
GREM1	O60565	p.Gln139Arg	rs1457535579	missense variant	-	NC_000015.10:g.32731106A>G	TOPMed,gnomAD
GREM1	O60565	p.Lys145Arg	rs1382342425	missense variant	-	NC_000015.10:g.32731124A>G	gnomAD
GREM1	O60565	p.Thr150Ile	rs202104240	missense variant	-	NC_000015.10:g.32731139C>T	ESP,ExAC,TOPMed,gnomAD
GREM1	O60565	p.Val154Ala	rs1467505239	missense variant	-	NC_000015.10:g.32731151T>C	gnomAD
GREM1	O60565	p.Thr155Ala	rs199760237	missense variant	-	NC_000015.10:g.32731153A>G	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Leu156Phe	RCV000766181	missense variant	-	NC_000015.10:g.32731156C>T	ClinVar
GREM1	O60565	p.Pro163Leu	rs1446800680	missense variant	-	NC_000015.10:g.32731178C>T	gnomAD
GREM1	O60565	p.Pro164Ser	rs1332974507	missense variant	-	NC_000015.10:g.32731180C>T	gnomAD
GREM1	O60565	p.Arg169Thr	rs1458654619	missense variant	-	NC_000015.10:g.32731196G>C	gnomAD
GREM1	O60565	p.Thr171Ala	rs1162318366	missense variant	-	NC_000015.10:g.32731201A>G	TOPMed,gnomAD
GREM1	O60565	p.Arg172Leu	rs1256642631	missense variant	-	NC_000015.10:g.32731205G>T	TOPMed,gnomAD
GREM1	O60565	p.Arg172His	rs1256642631	missense variant	-	NC_000015.10:g.32731205G>A	TOPMed,gnomAD
GREM1	O60565	p.Arg172Cys	rs748146251	missense variant	-	NC_000015.10:g.32731204C>T	ExAC,gnomAD
GREM1	O60565	p.Lys174Glu	rs1199299875	missense variant	-	NC_000015.10:g.32731210A>G	gnomAD
GREM1	O60565	p.Gln175His	rs763336404	missense variant	-	NC_000015.10:g.32731215G>C	ExAC,TOPMed,gnomAD
GREM1	O60565	p.Arg177His	rs1190459895	missense variant	-	NC_000015.10:g.32731220G>A	gnomAD
GREM1	O60565	p.Ile179Thr	rs368726521	missense variant	-	NC_000015.10:g.32731226T>C	ESP,TOPMed
GREM1	O60565	p.Ile179Val	rs942578260	missense variant	-	NC_000015.10:g.32731225A>G	TOPMed,gnomAD
GREM1	O60565	p.Asp184Gly	rs767985360	missense variant	-	NC_000015.10:g.32731241A>G	ExAC,gnomAD
GREM1	O60565	p.Asp184His	rs760105878	missense variant	-	NC_000015.10:g.32731240G>C	ExAC,gnomAD
PLOD3	O60568	p.Ser3Phe	rs368815896	missense variant	-	NC_000007.14:g.101217267G>A	TOPMed,gnomAD
PLOD3	O60568	p.Ser4Leu	rs1245919321	missense variant	-	NC_000007.14:g.101217264G>A	gnomAD
PLOD3	O60568	p.Gly5Arg	rs760800644	missense variant	-	NC_000007.14:g.101217262C>T	ExAC,gnomAD
PLOD3	O60568	p.Pro6Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101217259G>T	NCI-TCGA
PLOD3	O60568	p.Pro6Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101217259G>A	NCI-TCGA
PLOD3	O60568	p.Pro8Ser	rs753195591	missense variant	-	NC_000007.14:g.101217253G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro8Thr	rs753195591	missense variant	-	NC_000007.14:g.101217253G>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro8Leu	rs1372942703	missense variant	-	NC_000007.14:g.101217252G>A	TOPMed,gnomAD
PLOD3	O60568	p.Arg9Trp	rs1298527212	missense variant	-	NC_000007.14:g.101217250G>A	gnomAD
PLOD3	O60568	p.Leu13Arg	rs768013978	missense variant	-	NC_000007.14:g.101217237A>C	ExAC,gnomAD
PLOD3	O60568	p.Leu18Val	rs1037202147	missense variant	-	NC_000007.14:g.101217223G>C	TOPMed,gnomAD
PLOD3	O60568	p.Pro19Ser	rs1386485093	missense variant	-	NC_000007.14:g.101217220G>A	gnomAD
PLOD3	O60568	p.Pro20Arg	rs1465079933	missense variant	-	NC_000007.14:g.101217216G>C	TOPMed,gnomAD
PLOD3	O60568	p.Ala21Val	rs1418148379	missense variant	-	NC_000007.14:g.101217213G>A	gnomAD
PLOD3	O60568	p.Ala24Gly	rs1250850558	missense variant	-	NC_000007.14:g.101217204G>C	gnomAD
PLOD3	O60568	p.Ser25Cys	rs1404808452	missense variant	-	NC_000007.14:g.101217201G>C	TOPMed
PLOD3	O60568	p.Asp26Asn	rs941515853	missense variant	-	NC_000007.14:g.101217199C>T	TOPMed,gnomAD
PLOD3	O60568	p.Asp26His	rs941515853	missense variant	-	NC_000007.14:g.101217199C>G	TOPMed,gnomAD
PLOD3	O60568	p.Arg29Trp	rs1222313540	missense variant	-	NC_000007.14:g.101217190G>A	TOPMed,gnomAD
PLOD3	O60568	p.Arg29Gln	rs1490660838	missense variant	-	NC_000007.14:g.101217189C>T	gnomAD
PLOD3	O60568	p.Gly30Cys	rs1044576633	missense variant	-	NC_000007.14:g.101217187C>A	TOPMed
PLOD3	O60568	p.Gly30Arg	rs1044576633	missense variant	-	NC_000007.14:g.101217187C>G	TOPMed
PLOD3	O60568	p.Val34Gly	rs1237057180	missense variant	-	NC_000007.14:g.101217174A>C	TOPMed,gnomAD
PLOD3	O60568	p.Glu37Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216785C>A	NCI-TCGA
PLOD3	O60568	p.Leu40Met	COSM1137590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101216778G>T	NCI-TCGA Cosmic
PLOD3	O60568	p.Val41Met	rs754076193	missense variant	-	NC_000007.14:g.101216775C>T	ExAC,gnomAD
PLOD3	O60568	p.Val41Leu	rs754076193	missense variant	-	NC_000007.14:g.101216775C>A	ExAC,gnomAD
PLOD3	O60568	p.Ala45Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216763C>T	NCI-TCGA
PLOD3	O60568	p.Ala47Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216757C>T	NCI-TCGA
PLOD3	O60568	p.Ala47Gly	rs767958979	missense variant	-	NC_000007.14:g.101216756G>C	ExAC,gnomAD
PLOD3	O60568	p.Glu48Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.101216754C>A	NCI-TCGA
PLOD3	O60568	p.Glu50Lys	rs752058315	missense variant	-	NC_000007.14:g.101216748C>T	ExAC
PLOD3	O60568	p.Glu50Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.101216748C>A	NCI-TCGA
PLOD3	O60568	p.Leu53Gln	rs766757369	missense variant	-	NC_000007.14:g.101216738A>T	ExAC
PLOD3	O60568	p.Arg57Ser	rs763295820	missense variant	-	NC_000007.14:g.101216727G>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg57Cys	rs763295820	missense variant	-	NC_000007.14:g.101216727G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser58Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216723G>A	NCI-TCGA
PLOD3	O60568	p.Ala59Val	rs776359603	missense variant	-	NC_000007.14:g.101216720G>A	ExAC,gnomAD
PLOD3	O60568	p.Phe61Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216713G>T	NCI-TCGA
PLOD3	O60568	p.Phe62Leu	rs963282673	missense variant	-	NC_000007.14:g.101216710G>C	TOPMed,gnomAD
PLOD3	O60568	p.Asn63Lys	rs145886391	missense variant	-	NC_000007.14:g.101216707G>C	ESP,ExAC,TOPMed
PLOD3	O60568	p.Asn63Ser	rs1249409241	missense variant	-	NC_000007.14:g.101216708T>C	gnomAD
PLOD3	O60568	p.Tyr64Cys	rs775172245	missense variant	-	NC_000007.14:g.101216705T>C	ExAC,gnomAD
PLOD3	O60568	p.Arg67Leu	rs866669362	missense variant	-	NC_000007.14:g.101216696C>A	gnomAD
PLOD3	O60568	p.Arg67Trp	rs771521329	missense variant	-	NC_000007.14:g.101216697G>A	ExAC,gnomAD
PLOD3	O60568	p.Arg67Gln	rs866669362	missense variant	-	NC_000007.14:g.101216696C>T	gnomAD
PLOD3	O60568	p.Thr68Ile	rs765674167	missense variant	-	NC_000007.14:g.101216545G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Leu69Val	rs1407199898	missense variant	-	NC_000007.14:g.101216543G>C	gnomAD
PLOD3	O60568	p.Gly70Ser	rs757754232	missense variant	-	NC_000007.14:g.101216540C>T	ExAC,gnomAD
PLOD3	O60568	p.Gly70Asp	rs1158167906	missense variant	-	NC_000007.14:g.101216539C>T	gnomAD
PLOD3	O60568	p.Gly72Ter	rs1490987058	stop gained	-	NC_000007.14:g.101216534C>A	gnomAD
PLOD3	O60568	p.Glu74Gly	rs1181575540	missense variant	-	NC_000007.14:g.101216527T>C	TOPMed
PLOD3	O60568	p.Trp75Ter	rs767079214	stop gained	-	NC_000007.14:g.101216524C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Trp75Ter	rs1269567750	stop gained	-	NC_000007.14:g.101216523C>T	gnomAD
PLOD3	O60568	p.Arg76Gln	rs759025279	missense variant	-	NC_000007.14:g.101216521C>T	ExAC,gnomAD
PLOD3	O60568	p.Arg76Ter	rs1224664350	stop gained	-	NC_000007.14:g.101216522G>A	gnomAD
PLOD3	O60568	p.Gly77Val	rs773754058	missense variant	-	NC_000007.14:g.101216518C>A	ExAC,gnomAD
PLOD3	O60568	p.Gly77Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216519C>T	NCI-TCGA
PLOD3	O60568	p.Arg82Gln	rs769577145	missense variant	-	NC_000007.14:g.101216503C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg82Ter	rs773194811	stop gained	-	NC_000007.14:g.101216504G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg82Pro	rs769577145	missense variant	-	NC_000007.14:g.101216503C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr83Ala	rs1284429544	missense variant	-	NC_000007.14:g.101216501T>C	TOPMed,gnomAD
PLOD3	O60568	p.Gly86Arg	rs1317735798	missense variant	-	NC_000007.14:g.101216492C>T	gnomAD
PLOD3	O60568	p.Gly86Ala	rs776857231	missense variant	-	NC_000007.14:g.101216491C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly86Val	rs776857231	missense variant	-	NC_000007.14:g.101216491C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly87Glu	rs368176524	missense variant	-	NC_000007.14:g.101216488C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Lys89Asn	rs747072926	missense variant	-	NC_000007.14:g.101216481C>G	ExAC,gnomAD
PLOD3	O60568	p.Lys89Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216481C>A	NCI-TCGA
PLOD3	O60568	p.Val90Ala	rs1474394000	missense variant	-	NC_000007.14:g.101216479A>G	gnomAD
PLOD3	O60568	p.Val90Ile	rs1192783718	missense variant	-	NC_000007.14:g.101216480C>T	gnomAD
PLOD3	O60568	p.Arg91Gln	rs527996901	missense variant	-	NC_000007.14:g.101216476C>T	1000Genomes,TOPMed,gnomAD
PLOD3	O60568	p.Trp92Gly	rs1465954083	missense variant	-	NC_000007.14:g.101216474A>C	gnomAD
PLOD3	O60568	p.Trp92Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216474A>T	NCI-TCGA
PLOD3	O60568	p.Trp92Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216473C>A	NCI-TCGA
PLOD3	O60568	p.Met97Val	rs902279206	missense variant	-	NC_000007.14:g.101216459T>C	TOPMed
PLOD3	O60568	p.Glu98Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216455T>C	NCI-TCGA
PLOD3	O60568	p.Lys99Asn	rs746362805	missense variant	-	NC_000007.14:g.101216451T>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr100His	rs375209437	missense variant	-	NC_000007.14:g.101216450A>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr100Ser	rs757627466	missense variant	-	NC_000007.14:g.101216449T>G	ExAC,gnomAD
PLOD3	O60568	p.Tyr100Asn	rs375209437	missense variant	-	NC_000007.14:g.101216450A>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala101Thr	rs780846219	missense variant	-	NC_000007.14:g.101216447C>T	ExAC,gnomAD
PLOD3	O60568	p.Asp102Val	rs751261465	missense variant	-	NC_000007.14:g.101216443T>A	ExAC
PLOD3	O60568	p.Asp102Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216444C>T	NCI-TCGA
PLOD3	O60568	p.Arg103Gly	rs765849561	missense variant	-	NC_000007.14:g.101216441G>C	ExAC,gnomAD
PLOD3	O60568	p.Arg103Gln	rs147622037	missense variant	-	NC_000007.14:g.101216440C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg103Trp	rs765849561	missense variant	-	NC_000007.14:g.101216441G>A	ExAC,gnomAD
PLOD3	O60568	p.Arg103Pro	rs147622037	missense variant	-	NC_000007.14:g.101216440C>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp105Asn	rs750298633	missense variant	-	NC_000007.14:g.101216435C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp105Tyr	rs750298633	missense variant	-	NC_000007.14:g.101216435C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Met106Val	rs1178037378	missense variant	-	NC_000007.14:g.101216432T>C	gnomAD
PLOD3	O60568	p.Met106Thr	rs1054158782	missense variant	-	NC_000007.14:g.101216431A>G	TOPMed,gnomAD
PLOD3	O60568	p.Met109Ile	rs560729276	missense variant	-	NC_000007.14:g.101216421C>T	1000Genomes,ExAC,gnomAD
PLOD3	O60568	p.Phe110Ser	rs1195189939	missense variant	-	NC_000007.14:g.101216419A>G	TOPMed
PLOD3	O60568	p.Phe110Leu	rs551969292	missense variant	-	NC_000007.14:g.101216418A>C	1000Genomes,ExAC,gnomAD
PLOD3	O60568	p.Asp112Gly	rs200949505	missense variant	-	NC_000007.14:g.101216413T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser113Asn	rs1182525049	missense variant	-	NC_000007.14:g.101216410C>T	gnomAD
PLOD3	O60568	p.Tyr114Asp	rs765121226	missense variant	-	NC_000007.14:g.101216325A>C	ExAC,gnomAD
PLOD3	O60568	p.Tyr114Cys	rs1232670004	missense variant	-	NC_000007.14:g.101216324T>C	gnomAD
PLOD3	O60568	p.Asp115Asn	rs753862679	missense variant	-	NC_000007.14:g.101216322C>T	ExAC,gnomAD
PLOD3	O60568	p.Asp115Glu	rs760584710	missense variant	-	NC_000007.14:g.101216320G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp115His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216322C>G	NCI-TCGA
PLOD3	O60568	p.Val116Met	rs145634314	missense variant	-	NC_000007.14:g.101216319C>T	ESP,ExAC,gnomAD
PLOD3	O60568	p.Leu118Gln	rs1322535361	missense variant	-	NC_000007.14:g.101216312A>T	gnomAD
PLOD3	O60568	p.Ala119Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216309G>A	NCI-TCGA
PLOD3	O60568	p.Gly120Asp	rs1372255624	missense variant	-	NC_000007.14:g.101216306C>T	TOPMed,gnomAD
PLOD3	O60568	p.Gly120Ser	rs759638439	missense variant	-	NC_000007.14:g.101216307C>T	ExAC,gnomAD
PLOD3	O60568	p.Ser121Asn	rs1031861555	missense variant	-	NC_000007.14:g.101216303C>T	TOPMed,gnomAD
PLOD3	O60568	p.Ser121Ile	COSM5450311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101216303C>A	NCI-TCGA Cosmic
PLOD3	O60568	p.Pro122Ala	rs774600059	missense variant	-	NC_000007.14:g.101216301G>C	ExAC,gnomAD
PLOD3	O60568	p.Thr123Ala	rs771170655	missense variant	-	NC_000007.14:g.101216298T>C	ExAC,gnomAD
PLOD3	O60568	p.Lys127Asn	rs1301955371	missense variant	-	NC_000007.14:g.101216284C>A	gnomAD
PLOD3	O60568	p.Lys127Gln	COSM269909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101216286T>G	NCI-TCGA Cosmic
PLOD3	O60568	p.Phe129Leu	rs773824188	missense variant	-	NC_000007.14:g.101216278G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln131His	rs1351137791	missense variant	-	NC_000007.14:g.101216272C>A	TOPMed,gnomAD
PLOD3	O60568	p.Ser132Ile	rs769989629	missense variant	-	NC_000007.14:g.101216270C>A	ExAC,gnomAD
PLOD3	O60568	p.Ser132Asn	rs769989629	missense variant	-	NC_000007.14:g.101216270C>T	ExAC,gnomAD
PLOD3	O60568	p.Gly133Ala	rs984162837	missense variant	-	NC_000007.14:g.101216267C>G	TOPMed
PLOD3	O60568	p.Gly133Ser	rs1305502313	missense variant	-	NC_000007.14:g.101216268C>T	TOPMed
PLOD3	O60568	p.Ser134Asn	rs1418162919	missense variant	-	NC_000007.14:g.101216264C>T	TOPMed,gnomAD
PLOD3	O60568	p.Ser134Arg	rs1407701219	missense variant	-	NC_000007.14:g.101216263G>T	gnomAD
PLOD3	O60568	p.Ser134Arg	rs1407701219	missense variant	-	NC_000007.14:g.101216263G>C	gnomAD
PLOD3	O60568	p.Arg135Cys	rs199668947	missense variant	-	NC_000007.14:g.101216262G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg135His	rs779637767	missense variant	-	NC_000007.14:g.101216261C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg135Leu	rs779637767	missense variant	-	NC_000007.14:g.101216261C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser139Pro	rs745560764	missense variant	-	NC_000007.14:g.101216250A>G	ExAC,gnomAD
PLOD3	O60568	p.Ala140Thr	rs1267310898	missense variant	-	NC_000007.14:g.101216247C>T	gnomAD
PLOD3	O60568	p.Glu141Lys	rs1213833423	missense variant	-	NC_000007.14:g.101216244C>T	gnomAD
PLOD3	O60568	p.Glu141Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216242C>G	NCI-TCGA
PLOD3	O60568	p.Ser142Gly	rs778372657	missense variant	-	NC_000007.14:g.101216241T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Trp145Leu	rs999046329	missense variant	-	NC_000007.14:g.101216231C>A	TOPMed
PLOD3	O60568	p.Glu147Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216226C>T	NCI-TCGA
PLOD3	O60568	p.Trp148Arg	rs756850977	missense variant	-	NC_000007.14:g.101216223A>G	ExAC,gnomAD
PLOD3	O60568	p.Trp148Leu	rs753715522	missense variant	-	NC_000007.14:g.101216222C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Trp148Ter	rs753715522	stop gained	-	NC_000007.14:g.101216222C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Trp148Ser	rs753715522	missense variant	-	NC_000007.14:g.101216222C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala151Val	rs35627324	missense variant	-	NC_000007.14:g.101216213G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu152Gly	rs767805406	missense variant	-	NC_000007.14:g.101216210T>C	ExAC,gnomAD
PLOD3	O60568	p.Gln153Glu	rs759796861	missense variant	-	NC_000007.14:g.101216208G>C	ExAC,gnomAD
PLOD3	O60568	p.Tyr154Asp	rs1363526540	missense variant	-	NC_000007.14:g.101216205A>C	TOPMed
PLOD3	O60568	p.Pro155Leu	rs1345462159	missense variant	-	NC_000007.14:g.101216201G>A	gnomAD
PLOD3	O60568	p.Glu156Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216197C>A	NCI-TCGA
PLOD3	O60568	p.Gly158Arg	rs766353700	missense variant	-	NC_000007.14:g.101216193C>G	ExAC,gnomAD
PLOD3	O60568	p.Gly158Asp	rs1364306776	missense variant	-	NC_000007.14:g.101216192C>T	TOPMed
PLOD3	O60568	p.Thr159Met	rs763102265	missense variant	-	NC_000007.14:g.101216189G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly160Glu	rs1434266298	missense variant	-	NC_000007.14:g.101216186C>T	gnomAD
PLOD3	O60568	p.Gly160Arg	rs1373431686	missense variant	-	NC_000007.14:g.101216187C>T	TOPMed
PLOD3	O60568	p.Lys161Arg	rs1304438447	missense variant	-	NC_000007.14:g.101216183T>C	TOPMed
PLOD3	O60568	p.Arg162Pro	rs776951292	missense variant	-	NC_000007.14:g.101216180C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg162Cys	rs748424624	missense variant	-	NC_000007.14:g.101216181G>A	ExAC,gnomAD
PLOD3	O60568	p.Arg162His	rs776951292	missense variant	-	NC_000007.14:g.101216180C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn165His	rs769058923	missense variant	-	NC_000007.14:g.101216172T>G	ExAC,gnomAD
PLOD3	O60568	p.Asn165Ser	rs372150950	missense variant	-	NC_000007.14:g.101216171T>C	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser166Ala	rs778605539	missense variant	-	NC_000007.14:g.101216169A>C	ExAC,gnomAD
PLOD3	O60568	p.Gly168Val	rs748706446	missense variant	-	NC_000007.14:g.101216020C>A	ExAC,gnomAD
PLOD3	O60568	p.Ile170Leu	rs769232014	missense variant	-	NC_000007.14:g.101216015T>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ile170Val	rs769232014	missense variant	-	NC_000007.14:g.101216015T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly171Ser	rs373970754	missense variant	-	NC_000007.14:g.101216012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly171Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101216012C>A	NCI-TCGA
PLOD3	O60568	p.Ala173Thr	rs1429677452	missense variant	-	NC_000007.14:g.101216006C>T	gnomAD
PLOD3	O60568	p.Ala173Ser	rs1429677452	missense variant	-	NC_000007.14:g.101216006C>A	gnomAD
PLOD3	O60568	p.Thr174Ala	rs754765786	missense variant	-	NC_000007.14:g.101216003T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr175Ile	rs201989842	missense variant	-	NC_000007.14:g.101215999G>A	1000Genomes,ExAC,gnomAD
PLOD3	O60568	p.Thr175Ser	rs201989842	missense variant	-	NC_000007.14:g.101215999G>C	1000Genomes,ExAC,gnomAD
PLOD3	O60568	p.Thr175Ala	rs1170637756	missense variant	-	NC_000007.14:g.101216000T>C	gnomAD
PLOD3	O60568	p.Ile176Thr	rs1384901818	missense variant	-	NC_000007.14:g.101215996A>G	gnomAD
PLOD3	O60568	p.His177Leu	rs1261527835	missense variant	-	NC_000007.14:g.101215993T>A	TOPMed
PLOD3	O60568	p.Ile179Val	rs34646598	missense variant	-	NC_000007.14:g.101215988T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val180Ala	rs1483376556	missense variant	-	NC_000007.14:g.101215984A>G	gnomAD
PLOD3	O60568	p.Val180Met	rs765347029	missense variant	-	NC_000007.14:g.101215985C>T	ExAC,gnomAD
PLOD3	O60568	p.Val180Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101215985C>A	NCI-TCGA
PLOD3	O60568	p.Arg181Cys	rs761949569	missense variant	-	NC_000007.14:g.101215982G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg181Pro	rs764596991	missense variant	-	NC_000007.14:g.101215981C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg181His	rs764596991	missense variant	-	NC_000007.14:g.101215981C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln182His	rs760977710	missense variant	-	NC_000007.14:g.101215977C>G	ExAC,gnomAD
PLOD3	O60568	p.Trp183Arg	rs775954530	missense variant	-	NC_000007.14:g.101215976A>G	ExAC,gnomAD
PLOD3	O60568	p.Trp183Ter	COSM3876653	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.101215974C>T	NCI-TCGA Cosmic
PLOD3	O60568	p.Tyr185His	rs1342566048	missense variant	-	NC_000007.14:g.101215970A>G	gnomAD
PLOD3	O60568	p.Asp187Gly	rs929219335	missense variant	-	NC_000007.14:g.101215963T>C	TOPMed,gnomAD
PLOD3	O60568	p.Asp190Asn	rs368287580	missense variant	-	NC_000007.14:g.101215955C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp190Glu	rs35159414	missense variant	-	NC_000007.14:g.101215953G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp191His	rs143734860	missense variant	-	NC_000007.14:g.101215952C>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp191Asn	rs143734860	missense variant	-	NC_000007.14:g.101215952C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg197Gly	rs768748003	missense variant	-	NC_000007.14:g.101215934G>C	ExAC,gnomAD
PLOD3	O60568	p.Arg197Trp	rs768748003	missense variant	-	NC_000007.14:g.101215934G>A	ExAC,gnomAD
PLOD3	O60568	p.Arg197Gln	rs746963202	missense variant	-	NC_000007.14:g.101215933C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Leu198Pro	rs779880576	missense variant	-	NC_000007.14:g.101215930A>G	ExAC,gnomAD
PLOD3	O60568	p.Leu198Phe	rs1001154230	missense variant	-	NC_000007.14:g.101215931G>A	TOPMed
PLOD3	O60568	p.Asp201Asn	rs1045047857	missense variant	-	NC_000007.14:g.101215922C>T	TOPMed,gnomAD
PLOD3	O60568	p.Asp201Tyr	rs1045047857	missense variant	-	NC_000007.14:g.101215922C>A	TOPMed,gnomAD
PLOD3	O60568	p.Asp201Glu	rs758186099	missense variant	-	NC_000007.14:g.101215920G>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro202Ala	rs1253948854	missense variant	-	NC_000007.14:g.101215919G>C	gnomAD
PLOD3	O60568	p.Pro202Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101215919G>A	NCI-TCGA
PLOD3	O60568	p.Gly203Ala	rs750653985	missense variant	-	NC_000007.14:g.101215915C>G	ExAC,gnomAD
PLOD3	O60568	p.Arg205Thr	rs779010610	missense variant	-	NC_000007.14:g.101215909C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg205Gly	rs915727650	missense variant	-	NC_000007.14:g.101215910T>C	TOPMed
PLOD3	O60568	p.Lys207Ter	rs776488125	stop gained	-	NC_000007.14:g.101215149T>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Lys207Thr	rs1208519410	missense variant	-	NC_000007.14:g.101215148T>G	gnomAD
PLOD3	O60568	p.Leu208Val	rs373370438	missense variant	-	NC_000007.14:g.101215146G>C	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Leu208Arg	rs370244221	missense variant	-	NC_000007.14:g.101215145A>C	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser209Ile	rs1346461830	missense variant	-	NC_000007.14:g.101215142C>A	TOPMed
PLOD3	O60568	p.His214Leu	rs140075236	missense variant	-	NC_000007.14:g.101215127T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg217Gln	rs200249528	missense variant	-	NC_000007.14:g.101215118C>T	gnomAD
PLOD3	O60568	p.Arg217Trp	rs745633525	missense variant	-	NC_000007.14:g.101215119G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn223Lys	rs778033206	missense variant	-	NC_000007.14:g.101215099G>C	ExAC,gnomAD
PLOD3	O60568	p.Asn223Ser	rs121434414	missense variant	-	NC_000007.14:g.101215100T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn223Ser	rs121434414	missense variant	Lysyl hydroxylase 3 deficiency (LH3 deficiency)	NC_000007.14:g.101215100T>C	UniProt,dbSNP
PLOD3	O60568	p.Asn223Ser	VAR_054913	missense variant	Lysyl hydroxylase 3 deficiency (LH3 deficiency)	NC_000007.14:g.101215100T>C	UniProt
PLOD3	O60568	p.Asn223Ser	RCV000007022	missense variant	Bone fragility with contractures, arterial rupture, and deafness	NC_000007.14:g.101215100T>C	ClinVar
PLOD3	O60568	p.Asn223His	rs770760479	missense variant	-	NC_000007.14:g.101215101T>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly224Arg	rs377578690	missense variant	-	NC_000007.14:g.101215098C>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly224Glu	rs1190952337	missense variant	-	NC_000007.14:g.101215097C>T	TOPMed
PLOD3	O60568	p.Ala225Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101215095C>T	NCI-TCGA
PLOD3	O60568	p.Leu226Ser	rs1450914625	missense variant	-	NC_000007.14:g.101215091A>G	gnomAD
PLOD3	O60568	p.Asp234Ala	rs751428470	missense variant	-	NC_000007.14:g.101213183T>G	ExAC,gnomAD
PLOD3	O60568	p.Asp234Val	rs751428470	missense variant	-	NC_000007.14:g.101213183T>A	ExAC,gnomAD
PLOD3	O60568	p.Asp234Gly	rs751428470	missense variant	-	NC_000007.14:g.101213183T>C	ExAC,gnomAD
PLOD3	O60568	p.Asp234Glu	rs766314490	missense variant	-	NC_000007.14:g.101213182A>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg235Trp	rs146134980	missense variant	-	NC_000007.14:g.101213181G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg235Gln	rs370032502	missense variant	-	NC_000007.14:g.101213180C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn236Lys	rs769682899	missense variant	-	NC_000007.14:g.101213176G>C	ExAC,gnomAD
PLOD3	O60568	p.Arg237Cys	rs761931995	missense variant	-	NC_000007.14:g.101213175G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg237His	rs548652350	missense variant	-	NC_000007.14:g.101213174C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val238Leu	rs768551448	missense variant	-	NC_000007.14:g.101213172C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg239His	rs780659488	missense variant	-	NC_000007.14:g.101213168C>T	ExAC,gnomAD
PLOD3	O60568	p.Arg239Cys	rs747100283	missense variant	-	NC_000007.14:g.101213169G>A	ExAC,gnomAD
PLOD3	O60568	p.Ile240Asn	rs772738908	missense variant	-	NC_000007.14:g.101213165A>T	ExAC,gnomAD
PLOD3	O60568	p.Arg241Gln	rs141948483	missense variant	-	NC_000007.14:g.101213162C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg241Trp	rs757697926	missense variant	-	NC_000007.14:g.101213163G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn242Thr	rs375154042	missense variant	-	NC_000007.14:g.101213159T>G	ESP
PLOD3	O60568	p.Val243Met	rs529683884	missense variant	-	NC_000007.14:g.101213157C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp246Asn	rs766261555	missense variant	-	NC_000007.14:g.101213148C>T	ExAC,gnomAD
PLOD3	O60568	p.Thr247Met	rs144851657	missense variant	-	NC_000007.14:g.101213144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr247Arg	rs144851657	missense variant	-	NC_000007.14:g.101213144G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr247Ser	rs1488918915	missense variant	-	NC_000007.14:g.101213145T>A	gnomAD
PLOD3	O60568	p.Ile250Thr	rs138687024	missense variant	-	NC_000007.14:g.101213135A>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ile250Val	rs149421464	missense variant	-	NC_000007.14:g.101213136T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val252Ile	rs1299951287	missense variant	-	NC_000007.14:g.101213130C>T	gnomAD
PLOD3	O60568	p.His253Asp	rs1279584601	missense variant	-	NC_000007.14:g.101213127G>C	TOPMed
PLOD3	O60568	p.Gly256Ser	rs764399995	missense variant	-	NC_000007.14:g.101213118C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly256Asp	COSM484526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101213117C>T	NCI-TCGA Cosmic
PLOD3	O60568	p.Pro257His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101213114G>T	NCI-TCGA
PLOD3	O60568	p.Pro257Leu	COSM3631364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101213114G>A	NCI-TCGA Cosmic
PLOD3	O60568	p.Pro257Ser	COSM3631365	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101213115G>A	NCI-TCGA Cosmic
PLOD3	O60568	p.Thr258Ile	rs775683536	missense variant	-	NC_000007.14:g.101213111G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln261His	COSM6107831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101212938C>A	NCI-TCGA Cosmic
PLOD3	O60568	p.Leu262Val	rs778679655	missense variant	-	NC_000007.14:g.101212937G>C	ExAC,gnomAD
PLOD3	O60568	p.Asn263Tyr	rs1397115128	missense variant	-	NC_000007.14:g.101212934T>A	gnomAD
PLOD3	O60568	p.Asn263Ser	rs201390485	missense variant	-	NC_000007.14:g.101212933T>C	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr264Ser	rs1354567434	missense variant	-	NC_000007.14:g.101212930T>G	TOPMed
PLOD3	O60568	p.Tyr264Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101212930T>C	NCI-TCGA
PLOD3	O60568	p.Gly266Glu	rs1429131620	missense variant	-	NC_000007.14:g.101212924C>T	gnomAD
PLOD3	O60568	p.Gly266Arg	rs1306237288	missense variant	-	NC_000007.14:g.101212925C>T	TOPMed,gnomAD
PLOD3	O60568	p.Asn267Lys	rs753770645	missense variant	-	NC_000007.14:g.101212920G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn267Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101212922T>C	NCI-TCGA
PLOD3	O60568	p.Val269Ile	rs377320080	missense variant	-	NC_000007.14:g.101212916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro270Leu	RCV000761553	missense variant	Bone fragility with contractures, arterial rupture, and deafness	NC_000007.14:g.101212912G>A	ClinVar
PLOD3	O60568	p.Asn271Ser	rs535949022	missense variant	-	NC_000007.14:g.101212909T>C	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn271His	rs1350200360	missense variant	-	NC_000007.14:g.101212910T>G	TOPMed
PLOD3	O60568	p.Gly272Ser	rs1346911680	missense variant	-	NC_000007.14:g.101212907C>T	gnomAD
PLOD3	O60568	p.Trp273Ter	rs767861354	stop gained	-	NC_000007.14:g.101212903C>T	ExAC,gnomAD
PLOD3	O60568	p.Trp273Ter	rs759484253	stop gained	-	NC_000007.14:g.101212902C>T	ExAC
PLOD3	O60568	p.Trp273Gly	rs1188048097	missense variant	-	NC_000007.14:g.101212904A>C	gnomAD
PLOD3	O60568	p.Pro275Leu	rs751691127	missense variant	-	NC_000007.14:g.101212897G>A	ExAC,gnomAD
PLOD3	O60568	p.Pro275His	rs751691127	missense variant	-	NC_000007.14:g.101212897G>T	ExAC,gnomAD
PLOD3	O60568	p.Glu276Gln	rs766407240	missense variant	-	NC_000007.14:g.101212895C>G	ExAC,gnomAD
PLOD3	O60568	p.Gly278Arg	rs773777464	missense variant	-	NC_000007.14:g.101212889C>G	ExAC,gnomAD
PLOD3	O60568	p.Cys279Tyr	rs1257153873	missense variant	-	NC_000007.14:g.101212885C>T	TOPMed
PLOD3	O60568	p.Gly280Ala	COSM1488081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101212882C>G	NCI-TCGA Cosmic
PLOD3	O60568	p.Asn283Ser	rs762179134	missense variant	-	NC_000007.14:g.101212873T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn283Asp	rs770077760	missense variant	-	NC_000007.14:g.101212874T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln284Glu	rs775078833	missense variant	-	NC_000007.14:g.101212871G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln284Arg	rs771747385	missense variant	-	NC_000007.14:g.101212870T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln284His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101212869C>A	NCI-TCGA
PLOD3	O60568	p.Asp285Asn	rs1395136416	missense variant	-	NC_000007.14:g.101212868C>T	TOPMed
PLOD3	O60568	p.Arg286Trp	rs1134907	missense variant	-	NC_000007.14:g.101212865G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg286Gln	rs145743073	missense variant	-	NC_000007.14:g.101212864C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg287Lys	rs1351167439	missense variant	-	NC_000007.14:g.101212861C>T	gnomAD
PLOD3	O60568	p.Thr288Ile	rs770403119	missense variant	-	NC_000007.14:g.101212858G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Leu289Val	rs1385274325	missense variant	-	NC_000007.14:g.101212856G>C	gnomAD
PLOD3	O60568	p.Pro290Ser	rs1299124702	missense variant	-	NC_000007.14:g.101212853G>A	gnomAD
PLOD3	O60568	p.Pro290Leu	rs749241534	missense variant	-	NC_000007.14:g.101212852G>A	ExAC,gnomAD
PLOD3	O60568	p.Gly291Glu	rs200279103	missense variant	-	NC_000007.14:g.101212849C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly291Val	rs200279103	missense variant	-	NC_000007.14:g.101212849C>A	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly291Ala	rs200279103	missense variant	-	NC_000007.14:g.101212849C>G	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly291Arg	rs755911884	missense variant	-	NC_000007.14:g.101212850C>T	ExAC,gnomAD
PLOD3	O60568	p.Gly292Val	rs751775730	missense variant	-	NC_000007.14:g.101212846C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly292Arg	rs1158264387	missense variant	-	NC_000007.14:g.101212847C>T	gnomAD
PLOD3	O60568	p.Gly292Glu	rs751775730	missense variant	-	NC_000007.14:g.101212846C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln293GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.101212844_101212845insCC	NCI-TCGA
PLOD3	O60568	p.Gln293AlaPheSerTerUnkUnk	rs746342377	frameshift	-	NC_000007.14:g.101212844_101212845insC	NCI-TCGA,NCI-TCGA Cosmic
PLOD3	O60568	p.Gln293SerPheSerTerUnkUnk	COSM3083053	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.101212845C>-	NCI-TCGA Cosmic
PLOD3	O60568	p.Pro295Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101212651G>A	NCI-TCGA
PLOD3	O60568	p.Pro296Arg	rs143577626	missense variant	-	NC_000007.14:g.101212648G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro296Leu	rs143577626	missense variant	-	NC_000007.14:g.101212648G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro296His	rs143577626	missense variant	-	NC_000007.14:g.101212648G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro296Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101212649G>T	NCI-TCGA
PLOD3	O60568	p.Pro296His	RCV000478234	missense variant	-	NC_000007.14:g.101212648G>T	ClinVar
PLOD3	O60568	p.Pro296Arg	RCV000659081	missense variant	-	NC_000007.14:g.101212648G>C	ClinVar
PLOD3	O60568	p.Arg297Gln	rs138002558	missense variant	-	NC_000007.14:g.101212645C>T	1000Genomes,ESP,TOPMed
PLOD3	O60568	p.Arg297Trp	rs776439156	missense variant	-	NC_000007.14:g.101212646G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg297Gly	rs776439156	missense variant	-	NC_000007.14:g.101212646G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg297GlyPheSerTerUnkUnk	rs780620804	frameshift	-	NC_000007.14:g.101212646G>-	NCI-TCGA,NCI-TCGA Cosmic
PLOD3	O60568	p.Arg297ProPheSerTerUnkUnk	rs770446713	frameshift	-	NC_000007.14:g.101212645_101212646insG	NCI-TCGA,NCI-TCGA Cosmic
PLOD3	O60568	p.Val298Gly	rs750879311	missense variant	-	NC_000007.14:g.101212642A>C	ExAC,gnomAD
PLOD3	O60568	p.Ala301Val	rs1442422055	missense variant	-	NC_000007.14:g.101212633G>A	gnomAD
PLOD3	O60568	p.Val302Leu	rs181326069	missense variant	-	NC_000007.14:g.101212631C>G	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val302Met	rs181326069	missense variant	-	NC_000007.14:g.101212631C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Phe303Ile	rs920764958	missense variant	-	NC_000007.14:g.101212628A>T	TOPMed
PLOD3	O60568	p.Phe303Leu	rs746140976	missense variant	-	NC_000007.14:g.101212626A>T	ExAC,gnomAD
PLOD3	O60568	p.Val304Ala	rs1302476779	missense variant	-	NC_000007.14:g.101212624A>G	TOPMed,gnomAD
PLOD3	O60568	p.Gln306Pro	rs1274144828	missense variant	-	NC_000007.14:g.101212618T>G	gnomAD
PLOD3	O60568	p.Gln306His	rs778953333	missense variant	-	NC_000007.14:g.101212617C>G	ExAC,gnomAD
PLOD3	O60568	p.Pro307Leu	rs1363743323	missense variant	-	NC_000007.14:g.101212615G>A	gnomAD
PLOD3	O60568	p.Thr308Ala	rs757397555	missense variant	-	NC_000007.14:g.101212613T>C	ExAC,gnomAD
PLOD3	O60568	p.Pro309Leu	rs377166799	missense variant	-	NC_000007.14:g.101212609G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro309Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101212610G>A	NCI-TCGA
PLOD3	O60568	p.Pro309Ala	rs764519054	missense variant	-	NC_000007.14:g.101212610G>C	ExAC
PLOD3	O60568	p.Pro312Thr	rs1168769480	missense variant	-	NC_000007.14:g.101212601G>T	gnomAD
PLOD3	O60568	p.Arg313Cys	rs140299455	missense variant	-	NC_000007.14:g.101212598G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg313His	rs764834505	missense variant	-	NC_000007.14:g.101212597C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln316Ter	rs1463452672	stop gained	-	NC_000007.14:g.101212589G>A	TOPMed
PLOD3	O60568	p.Arg317Gln	rs373230090	missense variant	-	NC_000007.14:g.101212585C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg317Trp	rs1258773963	missense variant	-	NC_000007.14:g.101212586G>A	gnomAD
PLOD3	O60568	p.Leu320Phe	rs1482077436	missense variant	-	NC_000007.14:g.101212577G>A	TOPMed,gnomAD
PLOD3	O60568	p.Leu321Met	rs143194730	missense variant	-	NC_000007.14:g.101212574G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr323Cys	rs775128872	missense variant	-	NC_000007.14:g.101212567T>C	ExAC,gnomAD
PLOD3	O60568	p.Pro324Leu	rs1309526677	missense variant	-	NC_000007.14:g.101212564G>A	gnomAD
PLOD3	O60568	p.Pro324His	rs1309526677	missense variant	-	NC_000007.14:g.101212564G>T	gnomAD
PLOD3	O60568	p.Pro325Ser	rs1287440412	missense variant	-	NC_000007.14:g.101212562G>A	gnomAD
PLOD3	O60568	p.Pro325Arg	rs771915167	missense variant	-	NC_000007.14:g.101212561G>C	ExAC,gnomAD
PLOD3	O60568	p.Pro325Ala	rs1287440412	missense variant	-	NC_000007.14:g.101212562G>C	gnomAD
PLOD3	O60568	p.Asp326Asn	rs369736445	missense variant	-	NC_000007.14:g.101212559C>T	1000Genomes,ESP,TOPMed,gnomAD
PLOD3	O60568	p.Arg327Lys	rs749345313	missense variant	-	NC_000007.14:g.101212555C>T	ExAC
PLOD3	O60568	p.Arg327Gly	rs770938015	missense variant	-	NC_000007.14:g.101212556T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg327Trp	rs770938015	missense variant	-	NC_000007.14:g.101212556T>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val328Leu	rs146795873	missense variant	-	NC_000007.14:g.101212553C>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr329Ile	rs756547572	missense variant	-	NC_000007.14:g.101212549G>A	ExAC,gnomAD
PLOD3	O60568	p.Leu330Phe	rs143574903	missense variant	-	NC_000007.14:g.101212547G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Leu330Val	rs143574903	missense variant	-	NC_000007.14:g.101212547G>C	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Phe331Leu	rs1546841	missense variant	-	NC_000007.14:g.101212542G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Phe331Ser	rs755459809	missense variant	-	NC_000007.14:g.101212543A>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.His333Asp	rs761366791	missense variant	-	NC_000007.14:g.101212538G>C	ExAC,gnomAD
PLOD3	O60568	p.Val337Phe	rs1175496342	missense variant	-	NC_000007.14:g.101212371C>A	TOPMed,gnomAD
PLOD3	O60568	p.Val337Leu	rs1175496342	missense variant	-	NC_000007.14:g.101212371C>G	TOPMed,gnomAD
PLOD3	O60568	p.Glu340Gln	rs763073092	missense variant	-	NC_000007.14:g.101212362C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu340Ala	rs773548323	missense variant	-	NC_000007.14:g.101212361T>G	ExAC,gnomAD
PLOD3	O60568	p.Glu340Gly	rs773548323	missense variant	-	NC_000007.14:g.101212361T>C	ExAC,gnomAD
PLOD3	O60568	p.Pro341Arg	rs1367626435	missense variant	-	NC_000007.14:g.101212358G>C	gnomAD
PLOD3	O60568	p.His342Tyr	rs1164013477	missense variant	-	NC_000007.14:g.101212356G>A	gnomAD
PLOD3	O60568	p.Ile343Val	rs1318508025	missense variant	-	NC_000007.14:g.101212353T>C	TOPMed
PLOD3	O60568	p.Ala344Thr	rs145247929	missense variant	-	NC_000007.14:g.101212350C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala344Pro	rs145247929	missense variant	-	NC_000007.14:g.101212350C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp345Ala	rs1482274825	missense variant	-	NC_000007.14:g.101212346T>G	gnomAD
PLOD3	O60568	p.Ser346Thr	rs777240572	missense variant	-	NC_000007.14:g.101212344A>T	ExAC,gnomAD
PLOD3	O60568	p.Ser346Phe	rs150001477	missense variant	-	NC_000007.14:g.101212343G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser346Cys	rs150001477	missense variant	-	NC_000007.14:g.101212343G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro348Leu	rs780555355	missense variant	-	NC_000007.14:g.101212337G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro348Ala	rs1349459565	missense variant	-	NC_000007.14:g.101212338G>C	gnomAD
PLOD3	O60568	p.Pro348Arg	rs780555355	missense variant	-	NC_000007.14:g.101212337G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln349Ter	rs777497883	stop gained	-	NC_000007.14:g.101212335G>A	ExAC,gnomAD
PLOD3	O60568	p.Leu350Phe	rs1296825015	missense variant	-	NC_000007.14:g.101212332G>A	gnomAD
PLOD3	O60568	p.Gln351Arg	rs755527280	missense variant	-	NC_000007.14:g.101212328T>C	ExAC,gnomAD
PLOD3	O60568	p.Asp352Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101212326C>A	NCI-TCGA
PLOD3	O60568	p.Asp352Asn	rs980369351	missense variant	-	NC_000007.14:g.101212326C>T	TOPMed,gnomAD
PLOD3	O60568	p.Lys358Asn	rs1429416587	missense variant	-	NC_000007.14:g.101212306C>A	gnomAD
PLOD3	O60568	p.Lys358Glu	rs767050732	missense variant	-	NC_000007.14:g.101212308T>C	ExAC,gnomAD
PLOD3	O60568	p.Val360Leu	rs183884043	missense variant	-	NC_000007.14:g.101212302C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val360Met	rs183884043	missense variant	-	NC_000007.14:g.101212302C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly361Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101212298C>A	NCI-TCGA
PLOD3	O60568	p.Pro362Leu	rs201666755	missense variant	-	NC_000007.14:g.101212295G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu363Asp	rs372042667	missense variant	-	NC_000007.14:g.101212291C>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala365Thr	rs150873622	missense variant	-	NC_000007.14:g.101212287C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Leu366Pro	rs1252225138	missense variant	-	NC_000007.14:g.101212283A>G	gnomAD
PLOD3	O60568	p.Pro368Ser	rs747517564	missense variant	-	NC_000007.14:g.101212278G>A	ExAC,gnomAD
PLOD3	O60568	p.Glu370Lys	rs772269466	missense variant	-	NC_000007.14:g.101212272C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala371Val	rs746263060	missense variant	-	NC_000007.14:g.101212268G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp373Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101212263C>A	NCI-TCGA
PLOD3	O60568	p.Met374Val	rs747843071	missense variant	-	NC_000007.14:g.101212260T>C	ExAC,gnomAD
PLOD3	O60568	p.Met374Thr	rs1008989119	missense variant	-	NC_000007.14:g.101212259A>G	TOPMed
PLOD3	O60568	p.Met374Ile	rs1300144646	missense variant	-	NC_000007.14:g.101212258C>T	TOPMed,gnomAD
PLOD3	O60568	p.Met374Leu	rs747843071	missense variant	-	NC_000007.14:g.101212260T>G	ExAC,gnomAD
PLOD3	O60568	p.Ala375Asp	rs376124107	missense variant	-	NC_000007.14:g.101212256G>T	ESP,ExAC,gnomAD
PLOD3	O60568	p.Ala375Val	rs376124107	missense variant	-	NC_000007.14:g.101212256G>A	ESP,ExAC,gnomAD
PLOD3	O60568	p.Met376Thr	rs751428849	missense variant	-	NC_000007.14:g.101212253A>G	ExAC,gnomAD
PLOD3	O60568	p.Met376Ile	rs1231291965	missense variant	-	NC_000007.14:g.101211950C>T	gnomAD
PLOD3	O60568	p.Asp377Asn	rs754058543	missense variant	-	NC_000007.14:g.101211949C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp377Glu	rs769885658	missense variant	-	NC_000007.14:g.101211947G>T	TOPMed,gnomAD
PLOD3	O60568	p.Cys379Ser	rs764437988	missense variant	-	NC_000007.14:g.101211942C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg380Gln	rs760793807	missense variant	-	NC_000007.14:g.101211939C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg380Trp	rs1362778232	missense variant	-	NC_000007.14:g.101211940G>A	gnomAD
PLOD3	O60568	p.Gln381Ter	rs1401277634	stop gained	-	NC_000007.14:g.101211937G>A	TOPMed,gnomAD
PLOD3	O60568	p.Gln381Arg	rs1161160350	missense variant	-	NC_000007.14:g.101211936T>C	TOPMed
PLOD3	O60568	p.Asp382His	rs41281013	missense variant	-	NC_000007.14:g.101211934C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp382His	RCV000508323	missense variant	-	NC_000007.14:g.101211934C>G	ClinVar
PLOD3	O60568	p.Glu384Lys	rs760071769	missense variant	-	NC_000007.14:g.101211928C>T	ExAC,gnomAD
PLOD3	O60568	p.Glu386Lys	rs141016387	missense variant	-	NC_000007.14:g.101211922C>T	ESP,ExAC
PLOD3	O60568	p.Phe387Cys	rs763320315	missense variant	-	NC_000007.14:g.101211918A>C	ExAC,gnomAD
PLOD3	O60568	p.Tyr388Asp	rs1195395005	missense variant	-	NC_000007.14:g.101211916A>C	gnomAD
PLOD3	O60568	p.Ser390Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101211909C>A	NCI-TCGA
PLOD3	O60568	p.Leu391Pro	rs1448120768	missense variant	-	NC_000007.14:g.101211906A>G	TOPMed,gnomAD
PLOD3	O60568	p.Ala393Ser	rs372590450	missense variant	-	NC_000007.14:g.101211901C>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala393Pro	rs372590450	missense variant	-	NC_000007.14:g.101211901C>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala393Gly	rs1340362825	missense variant	-	NC_000007.14:g.101211900G>C	gnomAD
PLOD3	O60568	p.Ala393Thr	rs372590450	missense variant	-	NC_000007.14:g.101211901C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp394Asn	rs771549876	missense variant	-	NC_000007.14:g.101211898C>T	ExAC,gnomAD
PLOD3	O60568	p.Ala395Thr	rs969774203	missense variant	-	NC_000007.14:g.101211895C>T	gnomAD
PLOD3	O60568	p.Val396Ile	rs778731070	missense variant	-	NC_000007.14:g.101211892C>T	ExAC,gnomAD
PLOD3	O60568	p.Thr398Asn	rs757073563	missense variant	-	NC_000007.14:g.101211885G>T	ExAC,gnomAD
PLOD3	O60568	p.Asn399Asp	rs749129317	missense variant	-	NC_000007.14:g.101211883T>C	ExAC,gnomAD
PLOD3	O60568	p.Asn399Ile	rs777747589	missense variant	-	NC_000007.14:g.101211882T>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn399Ser	rs777747589	missense variant	-	NC_000007.14:g.101211882T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Leu400Gln	rs1231134106	missense variant	-	NC_000007.14:g.101211879A>T	gnomAD
PLOD3	O60568	p.Thr402Ile	rs1417773286	missense variant	-	NC_000007.14:g.101211873G>A	gnomAD
PLOD3	O60568	p.Leu403Met	rs1167745425	missense variant	-	NC_000007.14:g.101211871G>T	TOPMed,gnomAD
PLOD3	O60568	p.Arg404His	rs137857342	missense variant	-	NC_000007.14:g.101211867C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg404Cys	rs143428253	missense variant	-	NC_000007.14:g.101211868G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg404Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101211867C>A	NCI-TCGA
PLOD3	O60568	p.Arg404Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101211868G>T	NCI-TCGA
PLOD3	O60568	p.Ile405Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101211865T>C	NCI-TCGA
PLOD3	O60568	p.Leu406Phe	rs1485354450	missense variant	-	NC_000007.14:g.101211862G>A	gnomAD
PLOD3	O60568	p.Leu406His	rs1258391591	missense variant	-	NC_000007.14:g.101211861A>T	TOPMed,gnomAD
PLOD3	O60568	p.Ile407Thr	rs766893581	missense variant	-	NC_000007.14:g.101211858A>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg411Gly	rs750765078	missense variant	-	NC_000007.14:g.101211847T>C	gnomAD
PLOD3	O60568	p.Lys412Asn	rs921756908	missense variant	-	NC_000007.14:g.101211713C>G	TOPMed
PLOD3	O60568	p.Lys412Arg	rs749230902	missense variant	-	NC_000007.14:g.101211714T>C	ExAC,gnomAD
PLOD3	O60568	p.Val413Met	rs1402547463	missense variant	-	NC_000007.14:g.101211712C>T	gnomAD
PLOD3	O60568	p.Ala415Ser	rs144508814	missense variant	-	NC_000007.14:g.101211706C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala415Asp	rs781436353	missense variant	-	NC_000007.14:g.101211705G>T	ExAC,gnomAD
PLOD3	O60568	p.Ala415Thr	rs144508814	missense variant	-	NC_000007.14:g.101211706C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro416Leu	rs1184706399	missense variant	-	NC_000007.14:g.101211702G>A	gnomAD
PLOD3	O60568	p.Met417Val	rs1341074530	missense variant	-	NC_000007.14:g.101211700T>C	TOPMed
PLOD3	O60568	p.Ser419Pro	rs747314273	missense variant	-	NC_000007.14:g.101211694A>G	ExAC,gnomAD
PLOD3	O60568	p.Ser419Phe	rs780103868	missense variant	-	NC_000007.14:g.101211693G>A	ExAC,gnomAD
PLOD3	O60568	p.Arg420Cys	rs367797717	missense variant	-	NC_000007.14:g.101211691G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg420His	rs750873977	missense variant	-	NC_000007.14:g.101211690C>T	ExAC,gnomAD
PLOD3	O60568	p.His421Tyr	rs1349033886	missense variant	-	NC_000007.14:g.101211688G>A	gnomAD
PLOD3	O60568	p.His421Arg	rs779421418	missense variant	-	NC_000007.14:g.101211687T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly422Val	rs754125482	missense variant	-	NC_000007.14:g.101211684C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly422Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101211685C>A	NCI-TCGA
PLOD3	O60568	p.Gly422Ser	rs1361810564	missense variant	-	NC_000007.14:g.101211685C>T	TOPMed,gnomAD
PLOD3	O60568	p.Trp425Arg	rs759093145	missense variant	-	NC_000007.14:g.101211676A>G	ExAC,gnomAD
PLOD3	O60568	p.Asn427Ser	rs751321650	missense variant	-	NC_000007.14:g.101211669T>C	ExAC,gnomAD
PLOD3	O60568	p.Phe428Leu	rs1186812422	missense variant	-	NC_000007.14:g.101211665G>C	TOPMed
PLOD3	O60568	p.Trp429Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101211662C>A	NCI-TCGA
PLOD3	O60568	p.Trp429Ter	rs1435642015	stop gained	-	NC_000007.14:g.101211663C>T	gnomAD
PLOD3	O60568	p.Gly430Ser	rs1396630720	missense variant	-	NC_000007.14:g.101211661C>T	gnomAD
PLOD3	O60568	p.Gly430Asp	rs765917145	missense variant	-	NC_000007.14:g.101211660C>T	ExAC,gnomAD
PLOD3	O60568	p.Gly430Val	rs765917145	missense variant	-	NC_000007.14:g.101211660C>A	ExAC,gnomAD
PLOD3	O60568	p.Ala431Asp	rs149262948	missense variant	-	NC_000007.14:g.101211657G>T	ESP,TOPMed,gnomAD
PLOD3	O60568	p.Ala431Ser	rs529293492	missense variant	-	NC_000007.14:g.101211658C>A	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala431Thr	rs529293492	missense variant	-	NC_000007.14:g.101211658C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala431Val	rs149262948	missense variant	-	NC_000007.14:g.101211657G>A	ESP,TOPMed,gnomAD
PLOD3	O60568	p.Leu432Ter	NCI-TCGA novel	frameshift	-	NC_000007.14:g.101211655G>-	NCI-TCGA
PLOD3	O60568	p.Ser433Ile	rs761849842	missense variant	-	NC_000007.14:g.101211651C>A	ExAC,gnomAD
PLOD3	O60568	p.Pro434Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101211648G>A	NCI-TCGA
PLOD3	O60568	p.Asp435Asn	rs192851267	missense variant	-	NC_000007.14:g.101211646C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp435Ala	rs1044539662	missense variant	-	NC_000007.14:g.101211645T>G	TOPMed,gnomAD
PLOD3	O60568	p.Asp435Glu	rs371224746	missense variant	-	NC_000007.14:g.101211644A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu436Gly	rs780270243	missense variant	-	NC_000007.14:g.101211642T>C	ExAC,gnomAD
PLOD3	O60568	p.Tyr437Cys	rs1296844399	missense variant	-	NC_000007.14:g.101211639T>C	gnomAD
PLOD3	O60568	p.Ala439Pro	rs138610113	missense variant	-	NC_000007.14:g.101211634C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala439Thr	rs138610113	missense variant	-	NC_000007.14:g.101211634C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala439Val	rs1312397134	missense variant	-	NC_000007.14:g.101211633G>A	gnomAD
PLOD3	O60568	p.Arg440Cys	rs757687149	missense variant	-	NC_000007.14:g.101211631G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg440His	rs368088563	missense variant	-	NC_000007.14:g.101211630C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg440Pro	rs368088563	missense variant	-	NC_000007.14:g.101211630C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu442Asp	rs935807855	missense variant	-	NC_000007.14:g.101211623C>A	TOPMed,gnomAD
PLOD3	O60568	p.Glu442Lys	rs543048444	missense variant	-	NC_000007.14:g.101211625C>T	TOPMed
PLOD3	O60568	p.Glu442Val	rs1206697382	missense variant	-	NC_000007.14:g.101211624T>A	TOPMed
PLOD3	O60568	p.Asp443Asn	rs1468924143	missense variant	-	NC_000007.14:g.101211622C>T	TOPMed
PLOD3	O60568	p.Val445Met	rs923589148	missense variant	-	NC_000007.14:g.101211616C>T	TOPMed,gnomAD
PLOD3	O60568	p.Val448Ala	rs1416493577	missense variant	-	NC_000007.14:g.101211606A>G	gnomAD
PLOD3	O60568	p.Arg450Trp	rs766150931	missense variant	-	NC_000007.14:g.101211601G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg450Gln	rs373909940	missense variant	-	NC_000007.14:g.101211600C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg452Gly	rs749921338	missense variant	-	NC_000007.14:g.101211595G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg452Gln	rs370762684	missense variant	-	NC_000007.14:g.101211594C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg452Ter	rs749921338	stop gained	-	NC_000007.14:g.101211595G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg452Pro	rs370762684	missense variant	-	NC_000007.14:g.101211594C>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg452Gln	RCV000757676	missense variant	-	NC_000007.14:g.101211594C>T	ClinVar
PLOD3	O60568	p.Arg452_Pro738del	VAR_082150	inframe_deletion	Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]	-	UniProt
PLOD3	O60568	p.Val455Met	COSM3876649	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101210669C>T	NCI-TCGA Cosmic
PLOD3	O60568	p.Trp456Cys	rs763646130	missense variant	-	NC_000007.14:g.101210664C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro459Leu	rs1303928482	missense variant	-	NC_000007.14:g.101210656G>A	gnomAD
PLOD3	O60568	p.Tyr460Ter	rs756035426	stop gained	-	NC_000007.14:g.101210652G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala464Thr	rs150135216	missense variant	-	NC_000007.14:g.101210642C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr465Phe	rs201711445	missense variant	-	NC_000007.14:g.101210638T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr465Cys	rs201711445	missense variant	-	NC_000007.14:g.101210638T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg468Gln	rs763124181	missense variant	-	NC_000007.14:g.101210629C>T	ExAC,gnomAD
PLOD3	O60568	p.Arg468Gly	rs75592752	missense variant	-	NC_000007.14:g.101210630G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg468Gly	RCV000757674	missense variant	-	NC_000007.14:g.101210630G>C	ClinVar
PLOD3	O60568	p.Arg468Trp	rs75592752	missense variant	-	NC_000007.14:g.101210630G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp470Glu	rs1171354354	missense variant	-	NC_000007.14:g.101210622A>T	TOPMed,gnomAD
PLOD3	O60568	p.Asp470Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101210624C>T	NCI-TCGA
PLOD3	O60568	p.Leu472Pro	rs1394829775	missense variant	-	NC_000007.14:g.101210617A>G	gnomAD
PLOD3	O60568	p.Arg473Gln	rs762343753	missense variant	-	NC_000007.14:g.101210614C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg473Trp	rs770056635	missense variant	-	NC_000007.14:g.101210615G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Met474Leu	rs1026852275	missense variant	-	NC_000007.14:g.101210612T>A	TOPMed,gnomAD
PLOD3	O60568	p.Met474Val	rs1026852275	missense variant	-	NC_000007.14:g.101210612T>C	TOPMed,gnomAD
PLOD3	O60568	p.Glu475Gly	rs757612083	missense variant	-	NC_000007.14:g.101210608T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu475Ala	rs757612083	missense variant	-	NC_000007.14:g.101210608T>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln478Arg	rs747434475	missense variant	-	NC_000007.14:g.101210599T>C	ExAC,gnomAD
PLOD3	O60568	p.Gln478Ter	rs769095247	stop gained	-	NC_000007.14:g.101210600G>A	ExAC,gnomAD
PLOD3	O60568	p.Gln478Glu	rs769095247	missense variant	-	NC_000007.14:g.101210600G>C	ExAC,gnomAD
PLOD3	O60568	p.Val481Met	rs1026679538	missense variant	-	NC_000007.14:g.101210591C>T	TOPMed
PLOD3	O60568	p.Phe482Val	rs993367504	missense variant	-	NC_000007.14:g.101210588A>C	TOPMed
PLOD3	O60568	p.Ser483Pro	rs376119433	missense variant	-	NC_000007.14:g.101210585A>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser483Ala	rs376119433	missense variant	-	NC_000007.14:g.101210585A>C	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser483Leu	rs143759215	missense variant	-	NC_000007.14:g.101210584G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly484Val	rs1297467796	missense variant	-	NC_000007.14:g.101210581C>A	TOPMed
PLOD3	O60568	p.Asp486Gly	rs1230154740	missense variant	-	NC_000007.14:g.101210575T>C	TOPMed
PLOD3	O60568	p.Thr487Ile	rs752570077	missense variant	-	NC_000007.14:g.101210572G>A	ExAC
PLOD3	O60568	p.Pro489Leu	rs145508748	missense variant	-	NC_000007.14:g.101210566G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro489Leu	RCV000757677	missense variant	-	NC_000007.14:g.101210566G>A	ClinVar
PLOD3	O60568	p.Asp490His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101210564C>G	NCI-TCGA
PLOD3	O60568	p.Met491Val	rs1310590625	missense variant	-	NC_000007.14:g.101210561T>C	TOPMed,gnomAD
PLOD3	O60568	p.Ala492Val	rs369969073	missense variant	-	NC_000007.14:g.101210557G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Cys494Arg	rs191441470	missense variant	-	NC_000007.14:g.101210552A>G	1000Genomes,ExAC,gnomAD
PLOD3	O60568	p.Arg498Gln	rs777238858	missense variant	-	NC_000007.14:g.101210539C>T	ExAC,gnomAD
PLOD3	O60568	p.Arg498Ter	rs762008131	stop gained	-	NC_000007.14:g.101210540G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp499Asn	rs1054482083	missense variant	-	NC_000007.14:g.101210537C>T	TOPMed
PLOD3	O60568	p.Asp499Gly	rs769256913	missense variant	-	NC_000007.14:g.101210536T>C	ExAC,gnomAD
PLOD3	O60568	p.Asp499His	rs1054482083	missense variant	-	NC_000007.14:g.101210537C>G	TOPMed
PLOD3	O60568	p.Lys500Asn	rs1318174260	missense variant	-	NC_000007.14:g.101210532C>G	gnomAD
PLOD3	O60568	p.Leu506Val	rs1167148560	missense variant	-	NC_000007.14:g.101210429G>C	TOPMed
PLOD3	O60568	p.Gln509Arg	rs747845058	missense variant	-	NC_000007.14:g.101210419T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.His510Tyr	rs35929039	missense variant	-	NC_000007.14:g.101210417G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.His510Tyr	RCV000507284	missense variant	-	NC_000007.14:g.101210417G>A	ClinVar
PLOD3	O60568	p.Arg514Gln	rs202167843	missense variant	-	NC_000007.14:g.101210404C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg514Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101210405G>C	NCI-TCGA
PLOD3	O60568	p.Arg514Trp	rs746896780	missense variant	-	NC_000007.14:g.101210405G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Leu515Phe	rs758172509	missense variant	-	NC_000007.14:g.101210402G>A	ExAC,gnomAD
PLOD3	O60568	p.Ala517Val	rs745629617	missense variant	-	NC_000007.14:g.101210395G>A	ExAC,gnomAD
PLOD3	O60568	p.Thr518Asn	rs142888598	missense variant	-	NC_000007.14:g.101210392G>T	ESP
PLOD3	O60568	p.Ser519Cys	rs1159485050	missense variant	-	NC_000007.14:g.101210389G>C	gnomAD
PLOD3	O60568	p.Arg520Thr	rs757537488	missense variant	-	NC_000007.14:g.101210386C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg520Ile	COSM1673409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101210386C>A	NCI-TCGA Cosmic
PLOD3	O60568	p.Tyr521Cys	rs754177160	missense variant	-	NC_000007.14:g.101210383T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp522Asn	rs756157359	missense variant	-	NC_000007.14:g.101210381C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr523Met	rs202176617	missense variant	-	NC_000007.14:g.101210377G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro528Ala	rs1208860656	missense variant	-	NC_000007.14:g.101210363G>C	TOPMed
PLOD3	O60568	p.Asp529Asn	rs766789252	missense variant	-	NC_000007.14:g.101210360C>T	ExAC,gnomAD
PLOD3	O60568	p.Asp529Tyr	rs766789252	missense variant	-	NC_000007.14:g.101210360C>A	ExAC,gnomAD
PLOD3	O60568	p.Trp531Arg	rs761452213	missense variant	-	NC_000007.14:g.101210354A>G	ExAC,gnomAD
PLOD3	O60568	p.Phe534Leu	rs768164152	missense variant	-	NC_000007.14:g.101210343G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp535Asn	rs1000275756	missense variant	-	NC_000007.14:g.101210342C>T	TOPMed
PLOD3	O60568	p.Asn536Ser	rs1247072000	missense variant	-	NC_000007.14:g.101210338T>C	TOPMed
PLOD3	O60568	p.Pro537Ser	rs746531692	missense variant	-	NC_000007.14:g.101210336G>A	ExAC,gnomAD
PLOD3	O60568	p.Pro537His	rs1295837681	missense variant	-	NC_000007.14:g.101210335G>T	gnomAD
PLOD3	O60568	p.Val538Ile	rs779997156	missense variant	-	NC_000007.14:g.101210333C>T	TOPMed
PLOD3	O60568	p.Gln543Glu	rs1296288542	missense variant	-	NC_000007.14:g.101210149G>C	gnomAD
PLOD3	O60568	p.Ile545Met	rs986773012	missense variant	-	NC_000007.14:g.101210141G>C	TOPMed,gnomAD
PLOD3	O60568	p.His546Tyr	rs1400897440	missense variant	-	NC_000007.14:g.101210140G>A	gnomAD
PLOD3	O60568	p.His546Asn	rs1400897440	missense variant	-	NC_000007.14:g.101210140G>T	gnomAD
PLOD3	O60568	p.His546Asn	RCV000513344	missense variant	-	NC_000007.14:g.101210140G>T	ClinVar
PLOD3	O60568	p.Glu547Gln	rs557730054	missense variant	-	NC_000007.14:g.101210137C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu547Lys	rs557730054	missense variant	-	NC_000007.14:g.101210137C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu547Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101210136T>A	NCI-TCGA
PLOD3	O60568	p.Arg551Pro	rs767074045	missense variant	-	NC_000007.14:g.101210124C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg551Gln	rs767074045	missense variant	-	NC_000007.14:g.101210124C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg551Trp	rs144815295	missense variant	-	NC_000007.14:g.101210125G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala552Val	rs1030637039	missense variant	-	NC_000007.14:g.101210121G>A	TOPMed,gnomAD
PLOD3	O60568	p.Glu554Asp	rs1201136098	missense variant	-	NC_000007.14:g.101210114T>G	gnomAD
PLOD3	O60568	p.Glu554Val	rs1259200689	missense variant	-	NC_000007.14:g.101210115T>A	gnomAD
PLOD3	O60568	p.Glu556Lys	rs1332762837	missense variant	-	NC_000007.14:g.101210110C>T	gnomAD
PLOD3	O60568	p.Gly557Arg	rs759134661	missense variant	-	NC_000007.14:g.101210107C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ile558Val	rs774395330	missense variant	-	NC_000007.14:g.101210104T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val559Met	rs746812876	missense variant	-	NC_000007.14:g.101210101C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val559Met	RCV000762471	missense variant	-	NC_000007.14:g.101210101C>T	ClinVar
PLOD3	O60568	p.Glu560Gln	rs140879834	missense variant	-	NC_000007.14:g.101210098C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu560Gly	rs769699387	missense variant	-	NC_000007.14:g.101210097T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu560Gln	RCV000762470	missense variant	-	NC_000007.14:g.101210098C>G	ClinVar
PLOD3	O60568	p.Gln561Pro	rs942963557	missense variant	-	NC_000007.14:g.101210094T>G	TOPMed
PLOD3	O60568	p.Pro562Ser	rs369002471	missense variant	-	NC_000007.14:g.101208957G>A	ESP,ExAC,gnomAD
PLOD3	O60568	p.Cys563Phe	rs779493601	missense variant	-	NC_000007.14:g.101208953C>A	ExAC,gnomAD
PLOD3	O60568	p.Pro564Ser	rs757518820	missense variant	-	NC_000007.14:g.101208951G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro564Leu	rs749637576	missense variant	-	NC_000007.14:g.101208950G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp565Asn	rs754667665	missense variant	-	NC_000007.14:g.101208948C>T	ExAC,gnomAD
PLOD3	O60568	p.Val566Met	rs765922998	missense variant	-	NC_000007.14:g.101208945C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val566Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101208944A>C	NCI-TCGA
PLOD3	O60568	p.Phe569Leu	rs1402021091	missense variant	-	NC_000007.14:g.101208934G>T	gnomAD
PLOD3	O60568	p.Glu574Asp	rs372579198	missense variant	-	NC_000007.14:g.101208919T>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu574Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.101208921C>A	NCI-TCGA
PLOD3	O60568	p.Met576Ile	rs1196239419	missense variant	-	NC_000007.14:g.101208913C>A	TOPMed
PLOD3	O60568	p.Met576Thr	rs1479316619	missense variant	-	NC_000007.14:g.101208914A>G	gnomAD
PLOD3	O60568	p.Ala582Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101208897C>A	NCI-TCGA
PLOD3	O60568	p.Glu583Gln	COSM743515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101208894C>G	NCI-TCGA Cosmic
PLOD3	O60568	p.Met584Ile	rs1261978561	missense variant	-	NC_000007.14:g.101208889C>T	TOPMed,gnomAD
PLOD3	O60568	p.Met584Thr	rs1192988536	missense variant	-	NC_000007.14:g.101208890A>G	gnomAD
PLOD3	O60568	p.His586Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101208884T>A	NCI-TCGA
PLOD3	O60568	p.His586Asp	rs147326916	missense variant	-	NC_000007.14:g.101208885G>C	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly588Ser	rs1441627968	missense variant	-	NC_000007.14:g.101208879C>T	TOPMed,gnomAD
PLOD3	O60568	p.Gln589Arg	rs1279114162	missense variant	-	NC_000007.14:g.101208875T>C	gnomAD
PLOD3	O60568	p.Trp590Ter	rs761705323	stop gained	-	NC_000007.14:g.101208871C>T	ExAC,gnomAD
PLOD3	O60568	p.Trp590Arg	rs1202087178	missense variant	-	NC_000007.14:g.101208873A>G	gnomAD
PLOD3	O60568	p.Gly593Arg	rs531449765	missense variant	-	NC_000007.14:g.101208864C>G	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly593Asp	rs760819096	missense variant	-	NC_000007.14:g.101208863C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly593Ser	rs531449765	missense variant	-	NC_000007.14:g.101208864C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly593Val	rs760819096	missense variant	-	NC_000007.14:g.101208863C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg594Leu	rs745986631	missense variant	-	NC_000007.14:g.101208860C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg594Trp	rs369393050	missense variant	-	NC_000007.14:g.101208861G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg594Gln	rs745986631	missense variant	-	NC_000007.14:g.101208860C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.His595Tyr	rs774330683	missense variant	-	NC_000007.14:g.101208858G>A	ExAC,gnomAD
PLOD3	O60568	p.Arg599Trp	rs200275391	missense variant	-	NC_000007.14:g.101207718T>A	1000Genomes
PLOD3	O60568	p.Arg599Ser	rs139049819	missense variant	-	NC_000007.14:g.101207716C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly602Val	rs1351922678	missense variant	-	NC_000007.14:g.101207708C>A	gnomAD
PLOD3	O60568	p.Glu605Lys	rs1241357246	missense variant	-	NC_000007.14:g.101207700C>T	gnomAD
PLOD3	O60568	p.Asn606Lys	rs756081191	missense variant	-	NC_000007.14:g.101207695A>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn606Lys	rs756081191	missense variant	-	NC_000007.14:g.101207695A>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val610Met	rs367756400	missense variant	-	NC_000007.14:g.101207685C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ile612Phe	rs767277255	missense variant	-	NC_000007.14:g.101207679T>A	ExAC,gnomAD
PLOD3	O60568	p.Met614Val	rs1325772829	missense variant	-	NC_000007.14:g.101207673T>C	gnomAD
PLOD3	O60568	p.Lys615Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101207668C>A	NCI-TCGA
PLOD3	O60568	p.Val617Leu	rs1418147986	missense variant	-	NC_000007.14:g.101207664C>A	gnomAD
PLOD3	O60568	p.Gly618Trp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101207661C>A	NCI-TCGA
PLOD3	O60568	p.Glu620Lys	rs201613747	missense variant	-	NC_000007.14:g.101207655C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln622Arg	rs770394017	missense variant	-	NC_000007.14:g.101207648T>C	ExAC,gnomAD
PLOD3	O60568	p.Gln622His	rs762468045	missense variant	-	NC_000007.14:g.101207647C>G	ExAC,gnomAD
PLOD3	O60568	p.Gln622Ter	rs773815193	stop gained	-	NC_000007.14:g.101207649G>A	ExAC,gnomAD
PLOD3	O60568	p.Trp623Ter	rs1213976958	stop gained	-	NC_000007.14:g.101207644C>T	gnomAD
PLOD3	O60568	p.Gln625Arg	rs777049170	missense variant	-	NC_000007.14:g.101207639T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg628Gln	rs148219926	missense variant	-	NC_000007.14:g.101207630C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg628Trp	rs1034818885	missense variant	-	NC_000007.14:g.101207631G>A	TOPMed,gnomAD
PLOD3	O60568	p.Thr629Met	rs74498833	missense variant	-	NC_000007.14:g.101207627G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr630Ter	rs748105435	stop gained	-	NC_000007.14:g.101207623A>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr630His	rs748761204	missense variant	-	NC_000007.14:g.101207625A>G	ExAC,gnomAD
PLOD3	O60568	p.Tyr630Phe	rs756035407	missense variant	-	NC_000007.14:g.101207624T>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr630Ser	rs756035407	missense variant	-	NC_000007.14:g.101207624T>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr630Cys	rs756035407	missense variant	-	NC_000007.14:g.101207624T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr630Ter	RCV000490386	nonsense	Bone fragility with contractures, arterial rupture, and deafness	NC_000007.14:g.101207623A>C	ClinVar
PLOD3	O60568	p.Gly632Ser	rs780976934	missense variant	-	NC_000007.14:g.101207619C>T	ExAC,gnomAD
PLOD3	O60568	p.Met634Val	rs531587667	missense variant	-	NC_000007.14:g.101207613T>C	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr635Ile	rs202064184	missense variant	-	NC_000007.14:g.101207609G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu636Lys	rs200112480	missense variant	-	NC_000007.14:g.101207607C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser637Thr	rs755547790	missense variant	-	NC_000007.14:g.101207603C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser637Ile	rs755547790	missense variant	-	NC_000007.14:g.101207603C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser637Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101207604T>C	NCI-TCGA
PLOD3	O60568	p.Leu638Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101207601G>T	NCI-TCGA
PLOD3	O60568	p.Pro640Ala	rs764469361	missense variant	-	NC_000007.14:g.101207595G>C	ExAC,gnomAD
PLOD3	O60568	p.Pro640Ser	rs764469361	missense variant	-	NC_000007.14:g.101207595G>A	ExAC,gnomAD
PLOD3	O60568	p.Gly641Ser	rs775960819	missense variant	-	NC_000007.14:g.101207592C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr644Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101207582G>A	NCI-TCGA
PLOD3	O60568	p.Ala646Val	rs368456141	missense variant	-	NC_000007.14:g.101206903G>A	ESP,ExAC,gnomAD
PLOD3	O60568	p.Ala646Thr	rs1197561363	missense variant	-	NC_000007.14:g.101206904C>T	gnomAD
PLOD3	O60568	p.Ala646Gly	rs368456141	missense variant	-	NC_000007.14:g.101206903G>C	ESP,ExAC,gnomAD
PLOD3	O60568	p.Arg647Gln	rs376302927	missense variant	-	NC_000007.14:g.101206900C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg647Leu	rs376302927	missense variant	-	NC_000007.14:g.101206900C>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg647Trp	RCV000762469	missense variant	-	NC_000007.14:g.101206901G>A	ClinVar
PLOD3	O60568	p.Arg647Trp	rs772004501	missense variant	-	NC_000007.14:g.101206901G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala648Val	rs779308242	missense variant	-	NC_000007.14:g.101206897G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val649Leu	rs886597664	missense variant	-	NC_000007.14:g.101206895C>A	TOPMed,gnomAD
PLOD3	O60568	p.Asn651Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101206887G>C	NCI-TCGA
PLOD3	O60568	p.Val654Phe	rs753836252	missense variant	-	NC_000007.14:g.101206880C>A	ExAC,gnomAD
PLOD3	O60568	p.Val654Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101206879A>G	NCI-TCGA
PLOD3	O60568	p.Arg655His	rs756572111	missense variant	-	NC_000007.14:g.101206876C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg655Cys	rs777964746	missense variant	-	NC_000007.14:g.101206877G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr656His	rs145574810	missense variant	-	NC_000007.14:g.101206874A>G	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr656Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101206873T>A	NCI-TCGA
PLOD3	O60568	p.Arg657Gly	rs747745259	missense variant	-	NC_000007.14:g.101206871G>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg657Gln	rs750040825	missense variant	-	NC_000007.14:g.101206870C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg657Leu	rs750040825	missense variant	-	NC_000007.14:g.101206870C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg657Trp	rs747745259	missense variant	-	NC_000007.14:g.101206871G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg657Pro	rs750040825	missense variant	-	NC_000007.14:g.101206870C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu660Gln	rs761576023	missense variant	-	NC_000007.14:g.101206862C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Glu660Lys	rs761576023	missense variant	-	NC_000007.14:g.101206862C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln661Glu	rs367776170	missense variant	-	NC_000007.14:g.101206859G>C	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gln661Pro	rs1185112432	missense variant	-	NC_000007.14:g.101206858T>G	TOPMed
PLOD3	O60568	p.Pro662Ser	rs1462115147	missense variant	-	NC_000007.14:g.101206856G>A	TOPMed
PLOD3	O60568	p.Pro662Leu	rs138165832	missense variant	-	NC_000007.14:g.101206855G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Pro662Gln	rs138165832	missense variant	-	NC_000007.14:g.101206855G>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ser663Phe	rs1281185643	missense variant	-	NC_000007.14:g.101206852G>A	gnomAD
PLOD3	O60568	p.Arg665Trp	rs771951643	missense variant	-	NC_000007.14:g.101206847G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg665Gln	rs745623784	missense variant	-	NC_000007.14:g.101206846C>T	ExAC,gnomAD
PLOD3	O60568	p.Arg665Trp	RCV000487905	missense variant	-	NC_000007.14:g.101206847G>A	ClinVar
PLOD3	O60568	p.His667Tyr	rs1337909973	missense variant	-	NC_000007.14:g.101206841G>A	gnomAD
PLOD3	O60568	p.His668Tyr	rs370276858	missense variant	-	NC_000007.14:g.101206838G>A	ESP,TOPMed
PLOD3	O60568	p.His668Gln	rs374560741	missense variant	-	NC_000007.14:g.101206836G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.His668Asp	rs370276858	missense variant	-	NC_000007.14:g.101206838G>C	ESP,TOPMed
PLOD3	O60568	p.Asp669Asn	rs771042939	missense variant	-	NC_000007.14:g.101206835C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp669His	rs771042939	missense variant	-	NC_000007.14:g.101206835C>G	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr672Ser	rs749588151	missense variant	-	NC_000007.14:g.101206825G>C	ExAC,gnomAD
PLOD3	O60568	p.Thr672Ile	rs749588151	missense variant	-	NC_000007.14:g.101206825G>A	ExAC,gnomAD
PLOD3	O60568	p.Leu675Phe	rs1201360012	missense variant	-	NC_000007.14:g.101206817G>A	TOPMed
PLOD3	O60568	p.Asn676Tyr	rs777650701	missense variant	-	NC_000007.14:g.101206814T>A	ExAC,gnomAD
PLOD3	O60568	p.Asn676Lys	rs111900768	missense variant	-	NC_000007.14:g.101206812G>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Val677Ile	rs753158711	missense variant	-	NC_000007.14:g.101206811C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala678Val	rs781689698	missense variant	-	NC_000007.14:g.101206807G>A	ExAC,gnomAD
PLOD3	O60568	p.Asn680Ser	rs773286578	missense variant	-	NC_000007.14:g.101206801T>C	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asn680Ile	rs773286578	missense variant	-	NC_000007.14:g.101206801T>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.His681Pro	rs751899386	missense variant	-	NC_000007.14:g.101206798T>G	ExAC,gnomAD
PLOD3	O60568	p.Lys682Arg	rs766827103	missense variant	-	NC_000007.14:g.101206795T>C	ExAC,gnomAD
PLOD3	O60568	p.Gly683Val	rs761368327	missense variant	-	NC_000007.14:g.101206792C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly683Ser	rs1291518785	missense variant	-	NC_000007.14:g.101206793C>T	gnomAD
PLOD3	O60568	p.Asp685Gly	rs1019713896	missense variant	-	NC_000007.14:g.101206786T>C	gnomAD
PLOD3	O60568	p.Tyr686His	rs1223440172	missense variant	-	NC_000007.14:g.101206784A>G	TOPMed,gnomAD
PLOD3	O60568	p.Tyr686Cys	rs1277145873	missense variant	-	NC_000007.14:g.101206783T>C	gnomAD
PLOD3	O60568	p.Gly689Ala	rs769982823	missense variant	-	NC_000007.14:g.101206432C>G	ExAC
PLOD3	O60568	p.Cys691Ter	RCV000007023	frameshift	Bone fragility with contractures, arterial rupture, and deafness	NC_000007.14:g.101206427del	ClinVar
PLOD3	O60568	p.Arg692His	rs371621231	missense variant	-	NC_000007.14:g.101206423C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg692Cys	rs776689472	missense variant	-	NC_000007.14:g.101206424G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg695His	rs780640063	missense variant	-	NC_000007.14:g.101206414C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg695Cys	rs747423129	missense variant	-	NC_000007.14:g.101206415G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Tyr696Ter	rs140519195	stop gained	-	NC_000007.14:g.101206410G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp697Gly	rs528770480	missense variant	-	NC_000007.14:g.101206408T>C	1000Genomes
PLOD3	O60568	p.Asp697Asn	rs199647243	missense variant	-	NC_000007.14:g.101206409C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Asp697Glu	rs1490393008	missense variant	-	NC_000007.14:g.101206407G>C	gnomAD
PLOD3	O60568	p.Ser702Tyr	rs563693250	missense variant	-	NC_000007.14:g.101206393G>T	1000Genomes
PLOD3	O60568	p.Pro703Leu	rs779199558	missense variant	-	NC_000007.14:g.101206390G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg704Trp	rs988564631	missense variant	-	NC_000007.14:g.101206388T>A	gnomAD
PLOD3	O60568	p.Gly706Val	rs376945666	missense variant	-	NC_000007.14:g.101206381C>A	ESP
PLOD3	O60568	p.Trp707Ter	rs1224893368	stop gained	-	NC_000007.14:g.101206378C>T	gnomAD
PLOD3	O60568	p.Ala708Glu	rs752400866	missense variant	-	NC_000007.14:g.101206375G>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ala708Val	rs752400866	missense variant	-	NC_000007.14:g.101206375G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.His711Tyr	rs754561361	missense variant	-	NC_000007.14:g.101206367G>A	ExAC,gnomAD
PLOD3	O60568	p.His711Gln	rs1305209886	missense variant	-	NC_000007.14:g.101206365G>T	gnomAD
PLOD3	O60568	p.Gly713Ser	rs376339415	missense variant	-	NC_000007.14:g.101206361C>T	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Gly713Ser	RCV000659080	missense variant	-	NC_000007.14:g.101206361C>T	ClinVar
PLOD3	O60568	p.Arg714Leu	rs777291237	missense variant	-	NC_000007.14:g.101206357C>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Arg714Cys	rs373117657	missense variant	-	NC_000007.14:g.101206358G>A	ESP,TOPMed,gnomAD
PLOD3	O60568	p.Arg714His	rs777291237	missense variant	-	NC_000007.14:g.101206357C>T	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Leu715Phe	rs1422982940	missense variant	-	NC_000007.14:g.101206355G>A	gnomAD
PLOD3	O60568	p.Thr716Ile	rs1428292888	missense variant	-	NC_000007.14:g.101206351G>A	TOPMed
PLOD3	O60568	p.Thr716Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101206351G>T	NCI-TCGA
PLOD3	O60568	p.His717Arg	rs765084518	missense variant	-	NC_000007.14:g.101206348T>C	ExAC,gnomAD
PLOD3	O60568	p.Glu720Lys	rs768681053	missense variant	-	NC_000007.14:g.101206340C>T	ExAC,gnomAD
PLOD3	O60568	p.Glu720Gln	rs768681053	missense variant	-	NC_000007.14:g.101206340C>G	ExAC,gnomAD
PLOD3	O60568	p.Gly721Glu	rs760776072	missense variant	-	NC_000007.14:g.101206336C>T	ExAC,gnomAD
PLOD3	O60568	p.Thr724Ala	rs775480770	missense variant	-	NC_000007.14:g.101206328T>C	ExAC,gnomAD
PLOD3	O60568	p.Thr724Met	rs375797901	missense variant	-	NC_000007.14:g.101206327G>A	ESP,ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Thr724Met	RCV000506767	missense variant	-	NC_000007.14:g.101206327G>A	ClinVar
PLOD3	O60568	p.Thr725Ala	rs779351171	missense variant	-	NC_000007.14:g.101206325T>C	ExAC,TOPMed
PLOD3	O60568	p.Gly727Ser	rs916041374	missense variant	-	NC_000007.14:g.101206319C>T	TOPMed,gnomAD
PLOD3	O60568	p.Thr728Ile	rs1406525759	missense variant	-	NC_000007.14:g.101206315G>A	gnomAD
PLOD3	O60568	p.Thr728Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.101206315G>T	NCI-TCGA
PLOD3	O60568	p.Arg729His	rs1361548571	missense variant	-	NC_000007.14:g.101206312C>T	gnomAD
PLOD3	O60568	p.Arg729Cys	rs771432327	missense variant	-	NC_000007.14:g.101206313G>A	ExAC,TOPMed,gnomAD
PLOD3	O60568	p.Ile731Val	rs747756291	missense variant	-	NC_000007.14:g.101206307T>C	ExAC,gnomAD
PLOD3	O60568	p.Ser734Thr	rs1432678087	missense variant	-	NC_000007.14:g.101206298A>T	gnomAD
PLOD3	O60568	p.Ser734Phe	rs1357311807	missense variant	-	NC_000007.14:g.101206297G>A	TOPMed,gnomAD
PLOD3	O60568	p.Ser734Thr	RCV000757675	missense variant	-	NC_000007.14:g.101206298A>T	ClinVar
PLOD3	O60568	p.Phe735Leu	rs781025282	missense variant	-	NC_000007.14:g.101206295A>G	ExAC,gnomAD
PLOD3	O60568	p.Asp737Asn	rs534871539	missense variant	-	NC_000007.14:g.101206289C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSC	O60682	p.Ser2Phe	COSM3901402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71844174G>A	NCI-TCGA Cosmic
MSC	O60682	p.Thr3Pro	rs776700577	missense variant	-	NC_000008.11:g.71844172T>G	ExAC,gnomAD
MSC	O60682	p.Thr3Lys	rs764180613	missense variant	-	NC_000008.11:g.71844171G>T	ExAC,gnomAD
MSC	O60682	p.Gly4Ser	rs920237222	missense variant	-	NC_000008.11:g.71844169C>T	TOPMed,gnomAD
MSC	O60682	p.Gly4Ala	rs760233781	missense variant	-	NC_000008.11:g.71844168C>G	ExAC,TOPMed,gnomAD
MSC	O60682	p.Gly4Asp	rs760233781	missense variant	-	NC_000008.11:g.71844168C>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Ser5Pro	rs1360956701	missense variant	-	NC_000008.11:g.71844166A>G	gnomAD
MSC	O60682	p.Ser7Asn	rs978543679	missense variant	-	NC_000008.11:g.71844159C>T	gnomAD
MSC	O60682	p.Asp8Val	rs1450095732	missense variant	-	NC_000008.11:g.71844156T>A	gnomAD
MSC	O60682	p.Pro9Ala	rs771506761	missense variant	-	NC_000008.11:g.71844154G>C	ExAC,TOPMed,gnomAD
MSC	O60682	p.Pro9Leu	rs745467298	missense variant	-	NC_000008.11:g.71844153G>A	ExAC,gnomAD
MSC	O60682	p.Glu10Gly	rs773880814	missense variant	-	NC_000008.11:g.71844150T>C	ExAC,TOPMed,gnomAD
MSC	O60682	p.Glu10Ala	rs773880814	missense variant	-	NC_000008.11:g.71844150T>G	ExAC,TOPMed,gnomAD
MSC	O60682	p.Glu11Lys	rs749701821	missense variant	-	NC_000008.11:g.71844148C>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Met12Lys	rs1419221748	missense variant	-	NC_000008.11:g.71844144A>T	TOPMed,gnomAD
MSC	O60682	p.Met12Leu	rs1450502143	missense variant	-	NC_000008.11:g.71844145T>A	gnomAD
MSC	O60682	p.Met12Thr	rs1419221748	missense variant	-	NC_000008.11:g.71844144A>G	TOPMed,gnomAD
MSC	O60682	p.Arg15Pro	rs758190685	missense variant	-	NC_000008.11:g.71844135C>G	TOPMed,gnomAD
MSC	O60682	p.Arg15Trp	rs1410724629	missense variant	-	NC_000008.11:g.71844136G>A	-
MSC	O60682	p.Gly16Arg	rs778219496	missense variant	-	NC_000008.11:g.71844133C>T	ExAC,gnomAD
MSC	O60682	p.Gly16Glu	rs559225782	missense variant	-	NC_000008.11:g.71844132C>T	1000Genomes,ExAC,gnomAD
MSC	O60682	p.Gly16Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71844133C>A	NCI-TCGA
MSC	O60682	p.Leu17Pro	rs1277065680	missense variant	-	NC_000008.11:g.71844129A>G	gnomAD
MSC	O60682	p.Gln18Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.71844127G>A	NCI-TCGA
MSC	O60682	p.Arg19Gln	rs750195088	missense variant	-	NC_000008.11:g.71844123C>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Tyr21Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.71844116G>T	NCI-TCGA
MSC	O60682	p.Pro22Ser	rs200476202	missense variant	-	NC_000008.11:g.71844115G>A	gnomAD
MSC	O60682	p.Pro22Leu	rs1230012786	missense variant	-	NC_000008.11:g.71844114G>A	TOPMed,gnomAD
MSC	O60682	p.Pro24Ser	rs757100221	missense variant	-	NC_000008.11:g.71844109G>A	ExAC,gnomAD
MSC	O60682	p.Ala25Pro	rs753728260	missense variant	-	NC_000008.11:g.71844106C>G	ExAC,gnomAD
MSC	O60682	p.Ala25Thr	rs753728260	missense variant	-	NC_000008.11:g.71844106C>T	ExAC,gnomAD
MSC	O60682	p.Arg28Lys	rs201307659	missense variant	-	NC_000008.11:g.71844096C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSC	O60682	p.Pro29Leu	COSM3901400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71844093G>A	NCI-TCGA Cosmic
MSC	O60682	p.Pro30Ser	rs766988381	missense variant	-	NC_000008.11:g.71844091G>A	ExAC,gnomAD
MSC	O60682	p.Arg32Cys	rs759036071	missense variant	-	NC_000008.11:g.71844085G>A	ExAC,TOPMed,gnomAD
MSC	O60682	p.Arg32Gly	rs759036071	missense variant	-	NC_000008.11:g.71844085G>C	ExAC,TOPMed,gnomAD
MSC	O60682	p.Arg32His	rs1474296931	missense variant	-	NC_000008.11:g.71844084C>T	gnomAD
MSC	O60682	p.Gly33Asp	rs774031595	missense variant	-	NC_000008.11:g.71844081C>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Val34Ile	COSM1553264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71844079C>T	NCI-TCGA Cosmic
MSC	O60682	p.Glu35Lys	rs1425819621	missense variant	-	NC_000008.11:g.71844076C>T	TOPMed,gnomAD
MSC	O60682	p.Glu35Gln	rs1425819621	missense variant	-	NC_000008.11:g.71844076C>G	TOPMed,gnomAD
MSC	O60682	p.Glu35Gly	COSM6181606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71844075T>C	NCI-TCGA Cosmic
MSC	O60682	p.Ser37Arg	rs1231353847	missense variant	-	NC_000008.11:g.71844068G>C	gnomAD
MSC	O60682	p.Ser37Ile	rs1272492964	missense variant	-	NC_000008.11:g.71844069C>A	gnomAD
MSC	O60682	p.Tyr38Ter	rs1390519135	stop gained	-	NC_000008.11:g.71844065G>T	gnomAD
MSC	O60682	p.Tyr38Ser	rs1031589354	missense variant	-	NC_000008.11:g.71844066T>G	TOPMed,gnomAD
MSC	O60682	p.Tyr38His	rs770527765	missense variant	-	NC_000008.11:g.71844067A>G	ExAC,gnomAD
MSC	O60682	p.Ala39Thr	rs1370731738	missense variant	-	NC_000008.11:g.71844064C>T	gnomAD
MSC	O60682	p.Ala39Val	rs762625407	missense variant	-	NC_000008.11:g.71844063G>A	ExAC,TOPMed
MSC	O60682	p.Ser42Asn	rs748583374	missense variant	-	NC_000008.11:g.71844054C>T	ExAC,gnomAD
MSC	O60682	p.Ser42Ile	rs748583374	missense variant	-	NC_000008.11:g.71844054C>A	ExAC,gnomAD
MSC	O60682	p.Asp43Glu	rs1360294434	missense variant	-	NC_000008.11:g.71844050G>T	TOPMed
MSC	O60682	p.Asn44Asp	rs1159936640	missense variant	-	NC_000008.11:g.71844049T>C	gnomAD
MSC	O60682	p.Asn44Ser	rs1418507486	missense variant	-	NC_000008.11:g.71844048T>C	gnomAD
MSC	O60682	p.Ser45Trp	rs886578002	missense variant	-	NC_000008.11:g.71844045G>C	gnomAD
MSC	O60682	p.Ser45Pro	rs1380984838	missense variant	-	NC_000008.11:g.71844046A>G	TOPMed
MSC	O60682	p.Ser45Ter	rs886578002	stop gained	-	NC_000008.11:g.71844045G>T	gnomAD
MSC	O60682	p.Ser45Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71844045G>A	NCI-TCGA
MSC	O60682	p.Ser45Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71844046A>T	NCI-TCGA
MSC	O60682	p.Ala47Val	rs1252112797	missense variant	-	NC_000008.11:g.71844039G>A	gnomAD
MSC	O60682	p.Ala47Thr	rs1488711959	missense variant	-	NC_000008.11:g.71844040C>T	gnomAD
MSC	O60682	p.Glu48Lys	rs768765211	missense variant	-	NC_000008.11:g.71844037C>T	ExAC,gnomAD
MSC	O60682	p.Glu48Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.71844037C>A	NCI-TCGA
MSC	O60682	p.Glu49Ala	rs747110176	missense variant	-	NC_000008.11:g.71844033T>G	ExAC,gnomAD
MSC	O60682	p.Glu50Lys	rs996595819	missense variant	-	NC_000008.11:g.71844031C>T	TOPMed,gnomAD
MSC	O60682	p.Glu50Gly	rs1253684466	missense variant	-	NC_000008.11:g.71844030T>C	gnomAD
MSC	O60682	p.Asp51Glu	rs780294442	missense variant	-	NC_000008.11:g.71844026G>T	ExAC,gnomAD
MSC	O60682	p.Pro52Ser	rs1303022259	missense variant	-	NC_000008.11:g.71844025G>A	TOPMed,gnomAD
MSC	O60682	p.Asp53Tyr	rs529973134	missense variant	-	NC_000008.11:g.71844022C>A	1000Genomes,TOPMed,gnomAD
MSC	O60682	p.Asp53Asn	rs529973134	missense variant	-	NC_000008.11:g.71844022C>T	1000Genomes,TOPMed,gnomAD
MSC	O60682	p.Gly54Arg	rs760142315	missense variant	-	NC_000008.11:g.71844019C>G	ExAC,TOPMed,gnomAD
MSC	O60682	p.Gly54Ser	rs760142315	missense variant	-	NC_000008.11:g.71844019C>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Glu55Lys	rs1439093112	missense variant	-	NC_000008.11:g.71844016C>T	gnomAD
MSC	O60682	p.Glu55Ter	rs1439093112	stop gained	-	NC_000008.11:g.71844016C>A	gnomAD
MSC	O60682	p.Glu57Gly	rs889461929	missense variant	-	NC_000008.11:g.71844009T>C	gnomAD
MSC	O60682	p.Cys59Phe	rs1453169057	missense variant	-	NC_000008.11:g.71844003C>A	gnomAD
MSC	O60682	p.Cys59Tyr	rs1453169057	missense variant	-	NC_000008.11:g.71844003C>T	gnomAD
MSC	O60682	p.Leu61Pro	rs755979594	missense variant	-	NC_000008.11:g.71843997A>G	ExAC,gnomAD
MSC	O60682	p.Thr63Ile	rs1454867334	missense variant	-	NC_000008.11:g.71843991G>A	gnomAD
MSC	O60682	p.Ala64Val	rs767402149	missense variant	-	NC_000008.11:g.71843988G>A	ExAC,gnomAD
MSC	O60682	p.Gly65Arg	rs182774730	missense variant	-	NC_000008.11:g.71843986C>G	1000Genomes,ExAC,TOPMed,gnomAD
MSC	O60682	p.Gly65Ser	rs182774730	missense variant	-	NC_000008.11:g.71843986C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSC	O60682	p.Ser66Gly	rs1443073978	missense variant	-	NC_000008.11:g.71843983T>C	TOPMed
MSC	O60682	p.Ala67Val	rs750993756	missense variant	-	NC_000008.11:g.71843979G>A	ExAC,gnomAD
MSC	O60682	p.Ala67Gly	rs750993756	missense variant	-	NC_000008.11:g.71843979G>C	ExAC,gnomAD
MSC	O60682	p.Ala67Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71843980C>T	NCI-TCGA
MSC	O60682	p.Glu68Gln	rs765895272	missense variant	-	NC_000008.11:g.71843977C>G	ExAC,TOPMed,gnomAD
MSC	O60682	p.Gly69Val	rs1484631239	missense variant	-	NC_000008.11:g.71843973C>A	TOPMed,gnomAD
MSC	O60682	p.Gly69Ala	rs1484631239	missense variant	-	NC_000008.11:g.71843973C>G	TOPMed,gnomAD
MSC	O60682	p.Cys70Tyr	rs528999718	missense variant	-	NC_000008.11:g.71843970C>T	gnomAD
MSC	O60682	p.Cys70Arg	rs1223661814	missense variant	-	NC_000008.11:g.71843971A>G	gnomAD
MSC	O60682	p.Lys71Glu	rs772852157	missense variant	-	NC_000008.11:g.71843968T>C	ExAC,TOPMed,gnomAD
MSC	O60682	p.Lys71Arg	rs540875015	missense variant	-	NC_000008.11:g.71843967T>C	1000Genomes
MSC	O60682	p.Lys71Ter	rs772852157	stop gained	-	NC_000008.11:g.71843968T>A	ExAC,TOPMed,gnomAD
MSC	O60682	p.Arg74Pro	rs572457232	missense variant	-	NC_000008.11:g.71843958C>G	1000Genomes,ExAC,TOPMed,gnomAD
MSC	O60682	p.Arg74Gln	rs572457232	missense variant	-	NC_000008.11:g.71843958C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSC	O60682	p.Pro75His	rs1296977150	missense variant	-	NC_000008.11:g.71843955G>T	gnomAD
MSC	O60682	p.Arg76Leu	rs1403611384	missense variant	-	NC_000008.11:g.71843952C>A	TOPMed
MSC	O60682	p.Arg76Cys	rs938529047	missense variant	-	NC_000008.11:g.71843953G>A	TOPMed,gnomAD
MSC	O60682	p.Ala78Asp	rs762138880	missense variant	-	NC_000008.11:g.71843946G>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Gly80Ser	rs767858487	missense variant	-	NC_000008.11:g.71843941C>T	TOPMed,gnomAD
MSC	O60682	p.Gly80Asp	rs769086663	missense variant	-	NC_000008.11:g.71843940C>T	ExAC,gnomAD
MSC	O60682	p.Gly81Ser	rs747587360	missense variant	-	NC_000008.11:g.71843938C>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Gly82Arg	rs1373401503	missense variant	-	NC_000008.11:g.71843935C>G	TOPMed,gnomAD
MSC	O60682	p.Gly84Val	rs1426652391	missense variant	-	NC_000008.11:g.71843928C>A	TOPMed,gnomAD
MSC	O60682	p.Gly84Asp	rs1426652391	missense variant	-	NC_000008.11:g.71843928C>T	TOPMed,gnomAD
MSC	O60682	p.Gly85Ser	rs1258114913	missense variant	-	NC_000008.11:g.71843926C>T	gnomAD
MSC	O60682	p.Ala87Ser	rs200007708	missense variant	-	NC_000008.11:g.71843920C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSC	O60682	p.Ala87Thr	rs200007708	missense variant	-	NC_000008.11:g.71843920C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSC	O60682	p.Ala87Val	rs1277771874	missense variant	-	NC_000008.11:g.71843919G>A	TOPMed,gnomAD
MSC	O60682	p.Ala87Glu	rs1277771874	missense variant	-	NC_000008.11:g.71843919G>T	TOPMed,gnomAD
MSC	O60682	p.Ala87Gly	rs1277771874	missense variant	-	NC_000008.11:g.71843919G>C	TOPMed,gnomAD
MSC	O60682	p.Gly88Ser	rs1206823616	missense variant	-	NC_000008.11:g.71843917C>T	gnomAD
MSC	O60682	p.Gly89Ser	rs1026398685	missense variant	-	NC_000008.11:g.71843914C>T	TOPMed,gnomAD
MSC	O60682	p.Lys92Thr	rs755961248	missense variant	-	NC_000008.11:g.71843904T>G	ExAC,TOPMed,gnomAD
MSC	O60682	p.Lys92Arg	rs755961248	missense variant	-	NC_000008.11:g.71843904T>C	ExAC,TOPMed,gnomAD
MSC	O60682	p.Leu95Phe	rs576382504	missense variant	-	NC_000008.11:g.71843896G>A	1000Genomes,gnomAD
MSC	O60682	p.Leu95His	rs1315362872	missense variant	-	NC_000008.11:g.71843895A>T	gnomAD
MSC	O60682	p.Leu95Arg	rs1315362872	missense variant	-	NC_000008.11:g.71843895A>C	gnomAD
MSC	O60682	p.Ala97Val	rs1354879000	missense variant	-	NC_000008.11:g.71843889G>A	TOPMed,gnomAD
MSC	O60682	p.Lys98Glu	rs371656922	missense variant	-	NC_000008.11:g.71843887T>C	ESP,ExAC,TOPMed,gnomAD
MSC	O60682	p.Lys98Arg	rs916990694	missense variant	-	NC_000008.11:g.71843886T>C	TOPMed
MSC	O60682	p.Lys98Gln	rs371656922	missense variant	-	NC_000008.11:g.71843887T>G	ESP,ExAC,TOPMed,gnomAD
MSC	O60682	p.Gly99Ala	rs1297250098	missense variant	-	NC_000008.11:g.71843883C>G	TOPMed
MSC	O60682	p.Gly99Ser	rs61732505	missense variant	-	NC_000008.11:g.71843884C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSC	O60682	p.Ser100Leu	rs1460222637	missense variant	-	NC_000008.11:g.71843880G>A	TOPMed,gnomAD
MSC	O60682	p.Ala102Thr	rs765804759	missense variant	-	NC_000008.11:g.71843875C>T	ExAC,gnomAD
MSC	O60682	p.Ala102Ser	rs765804759	missense variant	-	NC_000008.11:g.71843875C>A	ExAC,gnomAD
MSC	O60682	p.Cys104Arg	rs757966260	missense variant	-	NC_000008.11:g.71843869A>G	ExAC,gnomAD
MSC	O60682	p.Ser107Pro	rs1474620905	missense variant	-	NC_000008.11:g.71843860A>G	gnomAD
MSC	O60682	p.Gln108Arg	rs764915854	missense variant	-	NC_000008.11:g.71843856T>C	ExAC,gnomAD
MSC	O60682	p.Gln108Ter	rs1159595644	stop gained	-	NC_000008.11:g.71843857G>A	gnomAD
MSC	O60682	p.Arg109Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71843854G>A	NCI-TCGA
MSC	O60682	p.Asn110Asp	rs1474729013	missense variant	-	NC_000008.11:g.71843851T>C	gnomAD
MSC	O60682	p.Ala111Thr	COSM3432550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843848C>T	NCI-TCGA Cosmic
MSC	O60682	p.Ala112Gly	rs1249311556	missense variant	-	NC_000008.11:g.71843844G>C	gnomAD
MSC	O60682	p.Ala112Ser	COSM1314184	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843845C>A	NCI-TCGA Cosmic
MSC	O60682	p.Asn113Thr	rs762209386	missense variant	-	NC_000008.11:g.71843841T>G	ExAC,gnomAD
MSC	O60682	p.Asn113Lys	rs924405173	missense variant	-	NC_000008.11:g.71843840G>T	TOPMed,gnomAD
MSC	O60682	p.Arg115His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71843835C>T	NCI-TCGA
MSC	O60682	p.Arg117Ser	rs1259973941	missense variant	-	NC_000008.11:g.71843830G>T	TOPMed
MSC	O60682	p.Arg117His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71843829C>T	NCI-TCGA
MSC	O60682	p.Arg117Cys	COSM1553266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843830G>A	NCI-TCGA Cosmic
MSC	O60682	p.Ala118Ser	rs1275652650	missense variant	-	NC_000008.11:g.71843827C>A	gnomAD
MSC	O60682	p.Arg119Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71843824G>A	NCI-TCGA
MSC	O60682	p.Arg119Gln	COSM1101460	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843823C>T	NCI-TCGA Cosmic
MSC	O60682	p.Met120Ile	rs1334345297	missense variant	-	NC_000008.11:g.71843819C>T	gnomAD
MSC	O60682	p.Arg121Gly	rs1183172324	missense variant	-	NC_000008.11:g.71843818G>C	TOPMed,gnomAD
MSC	O60682	p.Arg121Cys	rs1183172324	missense variant	-	NC_000008.11:g.71843818G>A	TOPMed,gnomAD
MSC	O60682	p.Arg121Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71843818G>T	NCI-TCGA
MSC	O60682	p.Arg121His	COSM248961	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843817C>T	NCI-TCGA Cosmic
MSC	O60682	p.Ser124Gly	rs1336580651	missense variant	-	NC_000008.11:g.71843809T>C	gnomAD
MSC	O60682	p.Ser124Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71843808C>G	NCI-TCGA
MSC	O60682	p.Ser128Cys	rs1328386103	missense variant	-	NC_000008.11:g.71843796G>C	gnomAD
MSC	O60682	p.Arg129Lys	rs764546762	missense variant	-	NC_000008.11:g.71843793C>T	ExAC,gnomAD
MSC	O60682	p.Leu130Ile	rs761032926	missense variant	-	NC_000008.11:g.71843791G>T	ExAC,gnomAD
MSC	O60682	p.Ser133Arg	rs776145869	missense variant	-	NC_000008.11:g.71843780G>T	ExAC,gnomAD
MSC	O60682	p.Pro135Thr	rs1268431000	missense variant	-	NC_000008.11:g.71843776G>T	TOPMed
MSC	O60682	p.Trp136Cys	rs968639059	missense variant	-	NC_000008.11:g.71843771C>A	TOPMed
MSC	O60682	p.Pro138Arg	COSM6181607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843766G>C	NCI-TCGA Cosmic
MSC	O60682	p.Pro139Ser	rs772274342	missense variant	-	NC_000008.11:g.71843764G>A	ExAC,TOPMed,gnomAD
MSC	O60682	p.Asp140Tyr	rs372185110	missense variant	-	NC_000008.11:g.71843761C>A	ESP,ExAC,TOPMed
MSC	O60682	p.Asp140Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71843761C>T	NCI-TCGA
MSC	O60682	p.Leu143His	rs754803268	missense variant	-	NC_000008.11:g.71843751A>T	ExAC,gnomAD
MSC	O60682	p.Ser144Cys	rs1436471074	missense variant	-	NC_000008.11:g.71843748G>C	gnomAD
MSC	O60682	p.Lys145Gln	rs780022525	missense variant	-	NC_000008.11:g.71843746T>G	ExAC,gnomAD
MSC	O60682	p.Lys145Thr	rs1241003040	missense variant	-	NC_000008.11:g.71843745T>G	TOPMed,gnomAD
MSC	O60682	p.Thr148Met	COSM1101459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843736G>A	NCI-TCGA Cosmic
MSC	O60682	p.Leu149Phe	rs1468436971	missense variant	-	NC_000008.11:g.71843734G>A	gnomAD
MSC	O60682	p.Leu151Pro	rs1351426962	missense variant	-	NC_000008.11:g.71843727A>G	gnomAD
MSC	O60682	p.Leu151Val	COSM3901397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843728G>C	NCI-TCGA Cosmic
MSC	O60682	p.Ser153Cys	rs756815025	missense variant	-	NC_000008.11:g.71843721G>C	ExAC,gnomAD
MSC	O60682	p.Ser154Asn	rs764300052	missense variant	-	NC_000008.11:g.71843718C>T	ExAC,gnomAD
MSC	O60682	p.Ala157Thr	COSM3901395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843710C>T	NCI-TCGA Cosmic
MSC	O60682	p.Arg160Trp	COSM5789910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71843701G>A	NCI-TCGA Cosmic
MSC	O60682	p.Gln164Arg	rs776129321	missense variant	-	NC_000008.11:g.71843688T>C	ExAC,TOPMed,gnomAD
MSC	O60682	p.Glu165Lys	rs1322415576	missense variant	-	NC_000008.11:g.71843686C>T	gnomAD
MSC	O60682	p.Arg167Leu	rs768188608	missense variant	-	NC_000008.11:g.71843679C>A	ExAC,gnomAD
MSC	O60682	p.Tyr168Phe	rs774522163	missense variant	-	NC_000008.11:g.71843676T>A	ExAC,TOPMed,gnomAD
MSC	O60682	p.Tyr168Cys	rs774522163	missense variant	-	NC_000008.11:g.71843676T>C	ExAC,TOPMed,gnomAD
MSC	O60682	p.Gly171Arg	rs1395247802	missense variant	-	NC_000008.11:g.71843668C>G	gnomAD
MSC	O60682	p.Tyr172Cys	rs763018117	missense variant	-	NC_000008.11:g.71843664T>C	ExAC,TOPMed,gnomAD
MSC	O60682	p.Val173Ala	rs746852328	missense variant	-	NC_000008.11:g.71843661A>G	ExAC,gnomAD
MSC	O60682	p.Val173Met	rs760063227	missense variant	-	NC_000008.11:g.71843662C>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Val173Leu	rs760063227	missense variant	-	NC_000008.11:g.71843662C>G	ExAC,TOPMed,gnomAD
MSC	O60682	p.Pro175Ser	rs779932755	missense variant	-	NC_000008.11:g.71843656G>A	ExAC,gnomAD
MSC	O60682	p.Val176Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71843653C>T	NCI-TCGA
MSC	O60682	p.Asn177Ser	rs964717310	missense variant	-	NC_000008.11:g.71843649T>C	TOPMed,gnomAD
MSC	O60682	p.Leu178Pro	rs1334574224	missense variant	-	NC_000008.11:g.71843646A>G	TOPMed,gnomAD
MSC	O60682	p.Thr179Ser	rs1431113352	missense variant	-	NC_000008.11:g.71842747T>A	TOPMed,gnomAD
MSC	O60682	p.Thr179Ala	rs1431113352	missense variant	-	NC_000008.11:g.71842747T>C	TOPMed,gnomAD
MSC	O60682	p.Trp180Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71842742C>A	NCI-TCGA
MSC	O60682	p.Pro181Ser	rs1386502508	missense variant	-	NC_000008.11:g.71842741G>A	TOPMed
MSC	O60682	p.Phe182Leu	rs766098609	missense variant	-	NC_000008.11:g.71842736G>T	ExAC,gnomAD
MSC	O60682	p.Phe182Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71842736G>C	NCI-TCGA
MSC	O60682	p.Val183Ala	rs202068867	missense variant	-	NC_000008.11:g.71842734A>G	gnomAD
MSC	O60682	p.Val183Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71842735C>T	NCI-TCGA
MSC	O60682	p.Gly186Arg	rs1280044254	missense variant	-	NC_000008.11:g.71842726C>T	gnomAD
MSC	O60682	p.Gly186Ala	rs373436659	missense variant	-	NC_000008.11:g.71842725C>G	ESP,ExAC,TOPMed,gnomAD
MSC	O60682	p.Gly186Glu	rs373436659	missense variant	-	NC_000008.11:g.71842725C>T	ESP,ExAC,TOPMed,gnomAD
MSC	O60682	p.Arg187Ile	rs562971593	missense variant	-	NC_000008.11:g.71842722C>A	1000Genomes,ExAC,gnomAD
MSC	O60682	p.Pro188Gln	rs776388351	missense variant	-	NC_000008.11:g.71842719G>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Pro188Leu	rs776388351	missense variant	-	NC_000008.11:g.71842719G>A	ExAC,TOPMed,gnomAD
MSC	O60682	p.Asp189Tyr	rs1446099611	missense variant	-	NC_000008.11:g.71842717C>A	TOPMed
MSC	O60682	p.Thr192Ser	rs1338493051	missense variant	-	NC_000008.11:g.71842707G>C	gnomAD
MSC	O60682	p.Glu194Asp	COSM269623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71842700T>G	NCI-TCGA Cosmic
MSC	O60682	p.Val195Leu	rs768380440	missense variant	-	NC_000008.11:g.71842699C>G	ExAC,gnomAD
MSC	O60682	p.Val195Ala	rs1250973437	missense variant	-	NC_000008.11:g.71842698A>G	TOPMed,gnomAD
MSC	O60682	p.Ser196Cys	rs1415624423	missense variant	-	NC_000008.11:g.71842695G>C	gnomAD
MSC	O60682	p.Ser196Phe	COSM3834993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71842695G>A	NCI-TCGA Cosmic
MSC	O60682	p.Ala197Thr	rs1375013054	missense variant	-	NC_000008.11:g.71842693C>T	gnomAD
MSC	O60682	p.Ala197Val	rs1374541766	missense variant	-	NC_000008.11:g.71842692G>A	TOPMed
MSC	O60682	p.Ala198Ser	COSM6113964	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71842690C>A	NCI-TCGA Cosmic
MSC	O60682	p.Asn199Asp	rs1170599977	missense variant	-	NC_000008.11:g.71842687T>C	gnomAD
MSC	O60682	p.Leu201Gln	rs1287051526	missense variant	-	NC_000008.11:g.71842680A>T	TOPMed
MSC	O60682	p.Cys202Ter	rs1261966677	stop gained	-	NC_000008.11:g.71842676A>T	TOPMed
MSC	O60682	p.Thr205Asn	rs758697140	missense variant	-	NC_000008.11:g.71842668G>T	ExAC,TOPMed,gnomAD
MSC	O60682	p.Thr205Ile	rs758697140	missense variant	-	NC_000008.11:g.71842668G>A	ExAC,TOPMed,gnomAD
MSC	O60682	p.Ala206Thr	rs779458176	missense variant	-	NC_000008.11:g.71842666C>T	ExAC,gnomAD
MSC	O60682	p.Ala206Gly	rs757305977	missense variant	-	NC_000008.11:g.71842665G>C	ExAC,TOPMed,gnomAD
MSC	O60682	p.Ter207Gln	rs377405872	stop lost	-	NC_000008.11:g.71842663A>G	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile4Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39521502A>T	NCI-TCGA
UGDH	O60701	p.Lys6Arg	rs767490233	missense variant	-	NC_000004.12:g.39521496T>C	ExAC,gnomAD
UGDH	O60701	p.Lys6Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39521495C>A	NCI-TCGA
UGDH	O60701	p.Ile7Leu	rs761771847	missense variant	-	NC_000004.12:g.39521494T>G	ExAC,gnomAD
UGDH	O60701	p.Ile7Phe	rs761771847	missense variant	-	NC_000004.12:g.39521494T>A	ExAC,gnomAD
UGDH	O60701	p.Cys9Phe	rs773970612	missense variant	-	NC_000004.12:g.39521487C>A	ExAC,gnomAD
UGDH	O60701	p.Gly13Asp	rs759610662	missense variant	-	NC_000004.12:g.39521475C>T	ExAC,gnomAD
UGDH	O60701	p.Tyr14Cys	rs369608407	missense variant	-	NC_000004.12:g.39521472T>C	ESP,ExAC,gnomAD
UGDH	O60701	p.Tyr14Cys	rs369608407	missense variant	-	NC_000004.12:g.39521472T>C	NCI-TCGA
UGDH	O60701	p.Cys20Tyr	rs773827332	missense variant	-	NC_000004.12:g.39521454C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile23Val	rs772663434	missense variant	-	NC_000004.12:g.39521446T>C	ExAC,gnomAD
UGDH	O60701	p.Ala24Ser	rs1306655122	missense variant	-	NC_000004.12:g.39521443C>A	TOPMed
UGDH	O60701	p.Met26Thr	rs947588957	missense variant	-	NC_000004.12:g.39521436A>G	TOPMed,gnomAD
UGDH	O60701	p.Met26Lys	rs947588957	missense variant	-	NC_000004.12:g.39521436A>T	TOPMed,gnomAD
UGDH	O60701	p.Arg31Lys	rs779084607	missense variant	-	NC_000004.12:g.39521421C>T	ExAC,gnomAD
UGDH	O60701	p.Val32Ile	rs1025047581	missense variant	-	NC_000004.12:g.39521419C>T	TOPMed
UGDH	O60701	p.Thr33Met	rs145763615	missense variant	-	NC_000004.12:g.39521415G>A	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val34Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39521413C>T	NCI-TCGA
UGDH	O60701	p.Val35Ile	rs1299204864	missense variant	-	NC_000004.12:g.39521410C>T	gnomAD
UGDH	O60701	p.Asn38Ser	rs928688123	missense variant	-	NC_000004.12:g.39521400T>C	TOPMed,gnomAD
UGDH	O60701	p.Asn38Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39521401T>C	NCI-TCGA
UGDH	O60701	p.Glu39Ter	COSM258308	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39521398C>A	NCI-TCGA Cosmic
UGDH	O60701	p.Ile42Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39521388A>T	NCI-TCGA
UGDH	O60701	p.Asn43Ser	rs1253201158	missense variant	-	NC_000004.12:g.39521385T>C	TOPMed
UGDH	O60701	p.Ala44Val	rs749975104	missense variant	-	NC_000004.12:g.39521382G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asn46Asp	rs1388970611	missense variant	-	NC_000004.12:g.39521377T>C	gnomAD
UGDH	O60701	p.Ser47Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39521373G>T	NCI-TCGA
UGDH	O60701	p.Leu50Val	rs763792474	missense variant	-	NC_000004.12:g.39521365G>C	ExAC,gnomAD
UGDH	O60701	p.Ile52Val	rs762867803	missense variant	-	NC_000004.12:g.39521359T>C	ExAC,gnomAD
UGDH	O60701	p.Pro55Ser	rs752500252	missense variant	-	NC_000004.12:g.39514184G>A	ExAC,gnomAD
UGDH	O60701	p.Glu59Asp	rs765143424	missense variant	-	NC_000004.12:g.39514170T>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Glu59Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39514172C>T	NCI-TCGA
UGDH	O60701	p.Val61Ile	rs760920354	missense variant	-	NC_000004.12:g.39514166C>T	ExAC,gnomAD
UGDH	O60701	p.Ser63Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39514159G>A	NCI-TCGA
UGDH	O60701	p.Arg65Ter	rs200059198	stop gained	-	NC_000004.12:g.39514154G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg65Gln	rs767697391	missense variant	-	NC_000004.12:g.39514153C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Leu69Ile	rs140219602	missense variant	-	NC_000004.12:g.39514142G>T	ESP,ExAC,gnomAD
UGDH	O60701	p.Phe71Leu	COSM1231666	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39514134A>C	NCI-TCGA Cosmic
UGDH	O60701	p.Ser72Pro	rs769243823	missense variant	-	NC_000004.12:g.39514133A>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ser72LeuPheSerTerUnkUnk	rs765734647	frameshift	-	NC_000004.12:g.39514133A>-	NCI-TCGA,NCI-TCGA Cosmic
UGDH	O60701	p.Ser72Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39514132G>T	NCI-TCGA
UGDH	O60701	p.Thr73Ser	rs1446226540	missense variant	-	NC_000004.12:g.39514129G>C	gnomAD
UGDH	O60701	p.Asn74Ser	rs775776023	missense variant	-	NC_000004.12:g.39514126T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asp76Tyr	rs1489618454	missense variant	-	NC_000004.12:g.39514121C>A	gnomAD
UGDH	O60701	p.Asp76Asn	COSM6167101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39514121C>T	NCI-TCGA Cosmic
UGDH	O60701	p.Ala78Thr	rs745515782	missense variant	-	NC_000004.12:g.39514115C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile79Val	rs776324809	missense variant	-	NC_000004.12:g.39514112T>C	ExAC,gnomAD
UGDH	O60701	p.Glu81Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39514106C>A	NCI-TCGA
UGDH	O60701	p.Ala82Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39514103C>T	NCI-TCGA
UGDH	O60701	p.Asp83Asn	rs777181206	missense variant	-	NC_000004.12:g.39514100C>T	ExAC,gnomAD
UGDH	O60701	p.Asp83His	rs777181206	missense variant	-	NC_000004.12:g.39514100C>G	ExAC,gnomAD
UGDH	O60701	p.Asp83Gly	rs1260873652	missense variant	-	NC_000004.12:g.39514099T>C	TOPMed
UGDH	O60701	p.Val85Ile	rs187460266	missense variant	-	NC_000004.12:g.39514094C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val85Leu	rs187460266	missense variant	-	NC_000004.12:g.39514094C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ser88Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39514084G>T	NCI-TCGA
UGDH	O60701	p.Asn90Thr	rs113565151	missense variant	-	NC_000004.12:g.39510857T>G	ExAC,gnomAD
UGDH	O60701	p.Asn90Ser	rs113565151	missense variant	-	NC_000004.12:g.39510857T>C	ExAC,gnomAD
UGDH	O60701	p.Pro92Ser	rs1389276038	missense variant	-	NC_000004.12:g.39510852G>A	gnomAD
UGDH	O60701	p.Thr93Arg	rs1400737927	missense variant	-	NC_000004.12:g.39510848G>C	gnomAD
UGDH	O60701	p.Lys94Asn	rs1172635390	missense variant	-	NC_000004.12:g.39510844T>A	gnomAD
UGDH	O60701	p.Thr95Asn	COSM4124605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39510842G>T	NCI-TCGA Cosmic
UGDH	O60701	p.Tyr96Cys	rs375953801	missense variant	-	NC_000004.12:g.39510839T>C	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Met98Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39510833A>G	NCI-TCGA
UGDH	O60701	p.Lys100Asn	rs1428096648	missense variant	-	NC_000004.12:g.39510826T>G	gnomAD
UGDH	O60701	p.Arg102Trp	rs779742282	missense variant	-	NC_000004.12:g.39510822G>A	ExAC,gnomAD
UGDH	O60701	p.Arg102Gln	rs757450293	missense variant	-	NC_000004.12:g.39510821C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg102Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39510821C>A	NCI-TCGA
UGDH	O60701	p.Ala104Val	rs1420419492	missense variant	-	NC_000004.12:g.39510815G>A	TOPMed,gnomAD
UGDH	O60701	p.Lys107Ter	rs751736713	stop gained	-	NC_000004.12:g.39510807T>A	ExAC,gnomAD
UGDH	O60701	p.Ala111Val	rs568964757	missense variant	-	NC_000004.12:g.39510794G>A	1000Genomes,ExAC,gnomAD
UGDH	O60701	p.Arg115His	rs202045254	missense variant	-	NC_000004.12:g.39510782C>T	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg115Cys	rs140504706	missense variant	-	NC_000004.12:g.39510783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg115Leu	rs202045254	missense variant	-	NC_000004.12:g.39510782C>A	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val117Leu	rs1263944470	missense variant	-	NC_000004.12:g.39510777C>G	gnomAD
UGDH	O60701	p.Gln118Arg	rs1221194267	missense variant	-	NC_000004.12:g.39510773T>C	TOPMed,gnomAD
UGDH	O60701	p.Gln118Leu	rs1221194267	missense variant	-	NC_000004.12:g.39510773T>A	TOPMed,gnomAD
UGDH	O60701	p.Asn119Asp	rs1371247878	missense variant	-	NC_000004.12:g.39510771T>C	gnomAD
UGDH	O60701	p.Asn121Asp	rs766669367	missense variant	-	NC_000004.12:g.39510765T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asn121His	rs766669367	missense variant	-	NC_000004.12:g.39510765T>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys124Glu	rs1333300842	missense variant	-	NC_000004.12:g.39510756T>C	gnomAD
UGDH	O60701	p.Ile125Met	rs760304916	missense variant	-	NC_000004.12:g.39510751A>C	ExAC,gnomAD
UGDH	O60701	p.Thr127Pro	rs1405123351	missense variant	-	NC_000004.12:g.39510747T>G	gnomAD
UGDH	O60701	p.Val132Ile	rs111337616	missense variant	-	NC_000004.12:g.39510732C>T	TOPMed
UGDH	O60701	p.Val132Gly	rs771593403	missense variant	-	NC_000004.12:g.39510731A>C	ExAC,gnomAD
UGDH	O60701	p.Val132Phe	rs111337616	missense variant	-	NC_000004.12:g.39510732C>A	TOPMed
UGDH	O60701	p.Pro133Leu	rs761454872	missense variant	-	NC_000004.12:g.39510728G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Pro133Ser	COSM265754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39510729G>A	NCI-TCGA Cosmic
UGDH	O60701	p.Val134Ala	rs1439780087	missense variant	-	NC_000004.12:g.39510725A>G	gnomAD
UGDH	O60701	p.Val134Gly	rs1439780087	missense variant	-	NC_000004.12:g.39510725A>C	gnomAD
UGDH	O60701	p.Arg135Trp	rs768674438	missense variant	-	NC_000004.12:g.39510723G>A	ExAC,gnomAD
UGDH	O60701	p.Arg135Gln	rs1182319939	missense variant	-	NC_000004.12:g.39510722C>T	gnomAD
UGDH	O60701	p.Glu138Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39510713T>C	NCI-TCGA
UGDH	O60701	p.Ile140Val	rs749259185	missense variant	-	NC_000004.12:g.39510708T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile140Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39510708T>G	NCI-TCGA
UGDH	O60701	p.Arg141His	rs769545929	missense variant	-	NC_000004.12:g.39510704C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg141Cys	rs115137663	missense variant	-	NC_000004.12:g.39510705G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg141Leu	rs769545929	missense variant	-	NC_000004.12:g.39510704C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg142Cys	rs747242250	missense variant	-	NC_000004.12:g.39510702G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg142His	rs368044471	missense variant	-	NC_000004.12:g.39510701C>T	ExAC,gnomAD
UGDH	O60701	p.Ile143Val	rs1355977627	missense variant	-	NC_000004.12:g.39510699T>C	gnomAD
UGDH	O60701	p.Asp145Val	rs1450410640	missense variant	-	NC_000004.12:g.39510692T>A	gnomAD
UGDH	O60701	p.Ala146Gly	rs1381741430	missense variant	-	NC_000004.12:g.39510689G>C	gnomAD
UGDH	O60701	p.Ala146Val	COSM6100002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39510689G>A	NCI-TCGA Cosmic
UGDH	O60701	p.Thr148Ala	rs752737840	missense variant	-	NC_000004.12:g.39510684T>C	ExAC,gnomAD
UGDH	O60701	p.Asn151Thr	rs778991709	missense variant	-	NC_000004.12:g.39510674T>G	ExAC,gnomAD
UGDH	O60701	p.Leu154Phe	rs754301626	missense variant	-	NC_000004.12:g.39510664T>G	ExAC,gnomAD
UGDH	O60701	p.Leu154Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39510666A>C	NCI-TCGA
UGDH	O60701	p.Gln155Ter	rs1381665298	stop gained	-	NC_000004.12:g.39510663G>A	gnomAD
UGDH	O60701	p.Gln155Arg	rs766757605	missense variant	-	NC_000004.12:g.39510662T>C	ExAC,gnomAD
UGDH	O60701	p.Asn159Ser	rs375062099	missense variant	-	NC_000004.12:g.39510540T>C	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Pro160Ser	rs772235942	missense variant	-	NC_000004.12:g.39510538G>A	ExAC,gnomAD
UGDH	O60701	p.Ala164Glu	rs1427070347	missense variant	-	NC_000004.12:g.39510525G>T	gnomAD
UGDH	O60701	p.Gly166Ter	rs748387130	stop gained	-	NC_000004.12:g.39510520C>A	ExAC,gnomAD
UGDH	O60701	p.Thr167Ile	rs755113560	missense variant	-	NC_000004.12:g.39510516G>A	ExAC,gnomAD
UGDH	O60701	p.Lys170Arg	rs908289507	missense variant	-	NC_000004.12:g.39510507T>C	gnomAD
UGDH	O60701	p.Asp171Asn	rs1288573479	missense variant	-	NC_000004.12:g.39510505C>T	gnomAD
UGDH	O60701	p.Asn174Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39510495T>C	NCI-TCGA
UGDH	O60701	p.Pro175Thr	rs756467468	missense variant	-	NC_000004.12:g.39510493G>T	ExAC,gnomAD
UGDH	O60701	p.Asp176Glu	rs1305524531	missense variant	-	NC_000004.12:g.39510488G>C	gnomAD
UGDH	O60701	p.Asp176Gly	rs1223728130	missense variant	-	NC_000004.12:g.39510489T>C	gnomAD
UGDH	O60701	p.Ile180Thr	rs768014546	missense variant	-	NC_000004.12:g.39510477A>G	ExAC,gnomAD
UGDH	O60701	p.Gly182Arg	rs527756813	missense variant	-	NC_000004.12:g.39510472C>T	1000Genomes,ExAC,gnomAD
UGDH	O60701	p.Thr185Ile	rs948466547	missense variant	-	NC_000004.12:g.39510462G>A	TOPMed
UGDH	O60701	p.Pro186Ala	COSM6167102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39510460G>C	NCI-TCGA Cosmic
UGDH	O60701	p.Gln189Arg	rs1282156495	missense variant	-	NC_000004.12:g.39510450T>C	TOPMed
UGDH	O60701	p.Arg190Ile	rs751260541	missense variant	-	NC_000004.12:g.39510447C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ala191Ser	rs763685293	missense variant	-	NC_000004.12:g.39510445C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Gln193Ter	rs894232451	stop gained	-	NC_000004.12:g.39510439G>A	TOPMed
UGDH	O60701	p.Ala194Val	rs144192248	missense variant	-	NC_000004.12:g.39510435G>A	ESP,ExAC,gnomAD
UGDH	O60701	p.Ala194Thr	rs1443799790	missense variant	-	NC_000004.12:g.39510436C>T	gnomAD
UGDH	O60701	p.Leu195Pro	rs1171919565	missense variant	-	NC_000004.12:g.39510432A>G	gnomAD
UGDH	O60701	p.Cys196Trp	rs775468206	missense variant	-	NC_000004.12:g.39510428A>C	ExAC,gnomAD
UGDH	O60701	p.Val198Ile	rs1427393045	missense variant	-	NC_000004.12:g.39510424C>T	gnomAD
UGDH	O60701	p.Glu200Asp	rs1463142555	missense variant	-	NC_000004.12:g.39510416C>A	TOPMed
UGDH	O60701	p.His201Arg	rs1199000393	missense variant	-	NC_000004.12:g.39510414T>C	TOPMed,gnomAD
UGDH	O60701	p.His201Gln	rs765048353	missense variant	-	NC_000004.12:g.39510413G>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val203Ile	rs1054657510	missense variant	-	NC_000004.12:g.39510409C>T	TOPMed
UGDH	O60701	p.Arg205Thr	rs933655472	missense variant	-	NC_000004.12:g.39510402C>G	gnomAD
UGDH	O60701	p.Glu206Gly	rs778486297	missense variant	-	NC_000004.12:g.39510399T>C	TOPMed
UGDH	O60701	p.Ile208Phe	rs776235593	missense variant	-	NC_000004.12:g.39510394T>A	ExAC,gnomAD
UGDH	O60701	p.Thr211Asn	rs770721281	missense variant	-	NC_000004.12:g.39510384G>T	ExAC,gnomAD
UGDH	O60701	p.Asn212Asp	rs1319762440	missense variant	-	NC_000004.12:g.39510382T>C	gnomAD
UGDH	O60701	p.Ser216Ter	rs774610502	stop gained	-	NC_000004.12:g.39510369G>T	ExAC,gnomAD
UGDH	O60701	p.Ala223Glu	rs1352368485	missense variant	-	NC_000004.12:g.39509903G>T	gnomAD
UGDH	O60701	p.Leu227Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39509892G>C	NCI-TCGA
UGDH	O60701	p.Ala228Ser	rs1450230376	missense variant	-	NC_000004.12:g.39509889C>A	TOPMed
UGDH	O60701	p.Gln229Lys	rs1243008711	missense variant	-	NC_000004.12:g.39509886G>T	gnomAD
UGDH	O60701	p.Gln229His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39509884C>A	NCI-TCGA
UGDH	O60701	p.Ile234Val	rs763881954	missense variant	-	NC_000004.12:g.39509871T>C	ExAC,gnomAD
UGDH	O60701	p.Ile237Met	rs1396973439	missense variant	-	NC_000004.12:g.39509860T>C	gnomAD
UGDH	O60701	p.Ile237Val	rs1333993203	missense variant	-	NC_000004.12:g.39509862T>C	TOPMed,gnomAD
UGDH	O60701	p.Leu240Met	rs1287358288	missense variant	-	NC_000004.12:g.39509853G>T	gnomAD
UGDH	O60701	p.Thr244Ala	rs1453094335	missense variant	-	NC_000004.12:g.39509841T>C	gnomAD
UGDH	O60701	p.Thr244Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39509840G>C	NCI-TCGA
UGDH	O60701	p.Asp247Val	rs139554286	missense variant	-	NC_000004.12:g.39509831T>A	ESP,ExAC,TOPMed
UGDH	O60701	p.Asp247Glu	rs1413039249	missense variant	-	NC_000004.12:g.39509830A>T	TOPMed,gnomAD
UGDH	O60701	p.Asp247Asn	rs1457035532	missense variant	-	NC_000004.12:g.39509832C>T	gnomAD
UGDH	O60701	p.Ala252Thr	rs1159158609	missense variant	-	NC_000004.12:g.39509817C>T	gnomAD
UGDH	O60701	p.Ile255Thr	rs1186496501	missense variant	-	NC_000004.12:g.39509807A>G	gnomAD
UGDH	O60701	p.Met257Lys	rs759328854	missense variant	-	NC_000004.12:g.39509801A>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Gln259His	COSM733508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39509794C>A	NCI-TCGA Cosmic
UGDH	O60701	p.Ala268Ser	rs766146242	missense variant	-	NC_000004.12:g.39509769C>A	ExAC,gnomAD
UGDH	O60701	p.Ser269Asn	rs760508476	missense variant	-	NC_000004.12:g.39509765C>T	ExAC,gnomAD
UGDH	O60701	p.Ser275Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39508648C>T	NCI-TCGA
UGDH	O60701	p.Gln278Arg	rs1273664472	missense variant	-	NC_000004.12:g.39508639T>C	TOPMed,gnomAD
UGDH	O60701	p.Val281Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39508630A>C	NCI-TCGA
UGDH	O60701	p.Asn283Asp	rs1423831672	missense variant	-	NC_000004.12:g.39508625T>C	gnomAD
UGDH	O60701	p.Cys288Tyr	rs985297316	missense variant	-	NC_000004.12:g.39508609C>T	gnomAD
UGDH	O60701	p.Ala290Val	rs776883283	missense variant	-	NC_000004.12:g.39508603G>A	ExAC,gnomAD
UGDH	O60701	p.Arg298Cys	rs199986130	missense variant	-	NC_000004.12:g.39508580G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg298His	rs968491131	missense variant	-	NC_000004.12:g.39508579C>T	TOPMed,gnomAD
UGDH	O60701	p.Ile304Thr	rs1464295100	missense variant	-	NC_000004.12:g.39505744A>G	gnomAD
UGDH	O60701	p.Ile304Val	rs1239397498	missense variant	-	NC_000004.12:g.39505745T>C	gnomAD
UGDH	O60701	p.Met306Arg	rs1159032166	missense variant	-	NC_000004.12:g.39505738A>C	TOPMed
UGDH	O60701	p.Asp308Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39505732T>G	NCI-TCGA
UGDH	O60701	p.Asp308Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39505733C>A	NCI-TCGA
UGDH	O60701	p.Tyr309His	rs1333198828	missense variant	-	NC_000004.12:g.39505730A>G	gnomAD
UGDH	O60701	p.Arg312Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39505719C>A	NCI-TCGA
UGDH	O60701	p.Arg313Lys	rs1317015589	missense variant	-	NC_000004.12:g.39505717C>T	TOPMed
UGDH	O60701	p.Arg313Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39505717C>A	NCI-TCGA
UGDH	O60701	p.Arg317Gln	rs775162839	missense variant	-	NC_000004.12:g.39505705C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg317Trp	rs779173046	missense variant	-	NC_000004.12:g.39505706G>A	ExAC,gnomAD
UGDH	O60701	p.Asp320ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39505693_39505696CTAT>-	NCI-TCGA
UGDH	O60701	p.Thr327Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39505675G>C	NCI-TCGA
UGDH	O60701	p.Lys329Asn	rs1287204329	missense variant	-	NC_000004.12:g.39505668C>G	TOPMed
UGDH	O60701	p.Ile333Leu	rs755687279	missense variant	-	NC_000004.12:g.39505658T>G	ExAC,gnomAD
UGDH	O60701	p.Ile333Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39505658T>A	NCI-TCGA
UGDH	O60701	p.Gly335Arg	rs973256107	missense variant	-	NC_000004.12:g.39505652C>T	gnomAD
UGDH	O60701	p.Thr342Ser	rs1203959093	missense variant	-	NC_000004.12:g.39505630G>C	TOPMed
UGDH	O60701	p.Asp344Asn	rs1283606237	missense variant	-	NC_000004.12:g.39505625C>T	TOPMed
UGDH	O60701	p.Arg346Lys	COSM3917751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39505618C>T	NCI-TCGA Cosmic
UGDH	O60701	p.Ser350Asn	rs1290408243	missense variant	-	NC_000004.12:g.39505359C>T	gnomAD
UGDH	O60701	p.Met358Thr	rs1479782965	missense variant	-	NC_000004.12:g.39505335A>G	TOPMed
UGDH	O60701	p.Glu360Lys	COSM6167103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39505330C>T	NCI-TCGA Cosmic
UGDH	O60701	p.Ala362Thr	rs769271659	missense variant	-	NC_000004.12:g.39505324C>T	ExAC,gnomAD
UGDH	O60701	p.His363Arg	rs10010387	missense variant	-	NC_000004.12:g.39505320T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Leu364Val	rs543523320	missense variant	-	NC_000004.12:g.39505318G>C	1000Genomes,ExAC,TOPMed,gnomAD
UGDH	O60701	p.His365Leu	rs746926346	missense variant	-	NC_000004.12:g.39505314T>A	ExAC,gnomAD
UGDH	O60701	p.His365Gln	rs1423124119	missense variant	-	NC_000004.12:g.39505313A>T	gnomAD
UGDH	O60701	p.Tyr367Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39505308T>C	NCI-TCGA
UGDH	O60701	p.Pro369Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39505302G>C	NCI-TCGA
UGDH	O60701	p.Pro369Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39505302G>A	NCI-TCGA
UGDH	O60701	p.Lys370Glu	rs1171698535	missense variant	-	NC_000004.12:g.39505300T>C	TOPMed,gnomAD
UGDH	O60701	p.Lys370Thr	rs777622665	missense variant	-	NC_000004.12:g.39505299T>G	ExAC,gnomAD
UGDH	O60701	p.Val371TyrPheSerTerUnk	COSM1429637	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39505298T>-	NCI-TCGA Cosmic
UGDH	O60701	p.Val378Met	rs1370929186	missense variant	-	NC_000004.12:g.39505276C>T	TOPMed
UGDH	O60701	p.Ser381Tyr	rs1461226039	missense variant	-	NC_000004.12:g.39505266G>T	TOPMed
UGDH	O60701	p.Ser381Phe	COSM420592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39505266G>A	NCI-TCGA Cosmic
UGDH	O60701	p.His382Gln	rs766743798	missense variant	-	NC_000004.12:g.39505262A>C	ExAC
UGDH	O60701	p.Gly384Val	rs750465337	missense variant	-	NC_000004.12:g.39505257C>A	ExAC,gnomAD
UGDH	O60701	p.Gly384Arg	rs182948898	missense variant	-	NC_000004.12:g.39505258C>G	1000Genomes,gnomAD
UGDH	O60701	p.Gly384Ser	rs182948898	missense variant	-	NC_000004.12:g.39505258C>T	1000Genomes,gnomAD
UGDH	O60701	p.Val385Ile	rs372994324	missense variant	-	NC_000004.12:g.39505255C>T	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ser386Ter	rs762313199	stop gained	-	NC_000004.12:g.39505251G>T	ExAC,gnomAD
UGDH	O60701	p.Asp389Gly	rs1407273373	missense variant	-	NC_000004.12:g.39505242T>C	TOPMed
UGDH	O60701	p.Gln390His	rs774785564	missense variant	-	NC_000004.12:g.39505238T>G	ExAC,gnomAD
UGDH	O60701	p.Arg393Trp	rs113094436	missense variant	-	NC_000004.12:g.39504503G>A	1000Genomes,ExAC,gnomAD
UGDH	O60701	p.Arg393Gln	rs1481372223	missense variant	-	NC_000004.12:g.39504502C>T	gnomAD
UGDH	O60701	p.Leu394Pro	rs1420139288	missense variant	-	NC_000004.12:g.39504499A>G	gnomAD
UGDH	O60701	p.Val395Met	rs752083244	missense variant	-	NC_000004.12:g.39504497C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys399Thr	rs763473129	missense variant	-	NC_000004.12:g.39504484T>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys399Arg	rs763473129	missense variant	-	NC_000004.12:g.39504484T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asp400Val	rs770011021	missense variant	-	NC_000004.12:g.39504481T>A	TOPMed
UGDH	O60701	p.Asp400Asn	rs1238675111	missense variant	-	NC_000004.12:g.39504482C>T	TOPMed,gnomAD
UGDH	O60701	p.Asp400Gly	rs770011021	missense variant	-	NC_000004.12:g.39504481T>C	TOPMed
UGDH	O60701	p.Tyr402His	rs899094826	missense variant	-	NC_000004.12:g.39504476A>G	TOPMed
UGDH	O60701	p.Asp406Gly	rs753003368	missense variant	-	NC_000004.12:g.39504463T>C	ExAC,gnomAD
UGDH	O60701	p.Gly407Asp	rs765591985	missense variant	-	NC_000004.12:g.39504460C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ala408Thr	rs776207068	missense variant	-	NC_000004.12:g.39504458C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ala408Ser	rs776207068	missense variant	-	NC_000004.12:g.39504458C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ala410Ser	rs770456604	missense variant	-	NC_000004.12:g.39504452C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile413Thr	COSM3674176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39504442A>G	NCI-TCGA Cosmic
UGDH	O60701	p.Glu416Ter	rs1361014385	stop gained	-	NC_000004.12:g.39504434C>A	gnomAD
UGDH	O60701	p.Glu416Asp	rs141970383	missense variant	-	NC_000004.12:g.39504432C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Trp417Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39504429C>A	NCI-TCGA
UGDH	O60701	p.Trp417Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39504430C>A	NCI-TCGA
UGDH	O60701	p.Met419Val	rs1437820312	missense variant	-	NC_000004.12:g.39504425T>C	gnomAD
UGDH	O60701	p.Met419Ile	rs371662600	missense variant	-	NC_000004.12:g.39504423C>T	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys421Asn	COSM286270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39504417C>A	NCI-TCGA Cosmic
UGDH	O60701	p.Glu422Gly	rs370295255	missense variant	-	NC_000004.12:g.39503984T>C	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Glu422Lys	rs772787684	missense variant	-	NC_000004.12:g.39503985C>T	ExAC,gnomAD
UGDH	O60701	p.Glu426Lys	rs922278383	missense variant	-	NC_000004.12:g.39503973C>T	gnomAD
UGDH	O60701	p.Arg427Cys	rs148161041	missense variant	-	NC_000004.12:g.39503970G>A	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg427His	rs768474926	missense variant	-	NC_000004.12:g.39503969C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.His429Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39503952_39503964GCATTTTTTTATG>-	NCI-TCGA
UGDH	O60701	p.Lys431Arg	rs147122976	missense variant	-	NC_000004.12:g.39503957T>C	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Met432CysPheSerTerUnk	rs774133578	frameshift	-	NC_000004.12:g.39503955T>-	NCI-TCGA,NCI-TCGA Cosmic
UGDH	O60701	p.Met432AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39503954_39503955insT	NCI-TCGA
UGDH	O60701	p.Pro435Ala	rs1318866802	missense variant	-	NC_000004.12:g.39503946G>C	gnomAD
UGDH	O60701	p.Phe437Ser	rs1162365973	missense variant	-	NC_000004.12:g.39503939A>G	gnomAD
UGDH	O60701	p.Phe437Val	rs1388307521	missense variant	-	NC_000004.12:g.39503940A>C	gnomAD
UGDH	O60701	p.Ile438Val	rs754871857	missense variant	-	NC_000004.12:g.39503937T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asp440Asn	rs777823955	missense variant	-	NC_000004.12:g.39503931C>T	ExAC,gnomAD
UGDH	O60701	p.Arg442Trp	rs201894374	missense variant	-	NC_000004.12:g.39503925G>A	1000Genomes,gnomAD
UGDH	O60701	p.Arg443Cys	rs1195945550	missense variant	-	NC_000004.12:g.39503922G>A	gnomAD
UGDH	O60701	p.Arg443His	rs1053767552	missense variant	-	NC_000004.12:g.39503921C>T	TOPMed
UGDH	O60701	p.Arg443His	rs1053767552	missense variant	-	NC_000004.12:g.39503921C>T	NCI-TCGA Cosmic
UGDH	O60701	p.Val444Leu	rs748628569	missense variant	-	NC_000004.12:g.39503919C>G	ExAC,gnomAD
UGDH	O60701	p.Asp446Asn	COSM1485950	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39503913C>T	NCI-TCGA Cosmic
UGDH	O60701	p.Gly447Arg	rs1259165663	missense variant	-	NC_000004.12:g.39503910C>T	TOPMed
UGDH	O60701	p.Leu448Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39503906A>C	NCI-TCGA
UGDH	O60701	p.His449Leu	rs779324355	missense variant	-	NC_000004.12:g.39503903T>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asn450Thr	rs137877647	missense variant	-	NC_000004.12:g.39503900T>G	ESP,TOPMed,gnomAD
UGDH	O60701	p.Asn450Ser	rs137877647	missense variant	-	NC_000004.12:g.39503900T>C	ESP,TOPMed,gnomAD
UGDH	O60701	p.Glu451Val	rs1256363149	missense variant	-	NC_000004.12:g.39503897T>A	gnomAD
UGDH	O60701	p.Gln453His	rs766784095	missense variant	-	NC_000004.12:g.39503890T>G	ExAC,gnomAD
UGDH	O60701	p.Gln453Ter	rs371132377	stop gained	-	NC_000004.12:g.39503892G>A	ESP,ExAC,gnomAD
UGDH	O60701	p.Ile455Thr	rs755764491	missense variant	-	NC_000004.12:g.39503885A>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile455Val	rs934953491	missense variant	-	NC_000004.12:g.39503886T>C	TOPMed
UGDH	O60701	p.Ile455Thr	rs755764491	missense variant	-	NC_000004.12:g.39503885A>G	NCI-TCGA,NCI-TCGA Cosmic
UGDH	O60701	p.Ile459Thr	rs895364082	missense variant	-	NC_000004.12:g.39500252A>G	TOPMed,gnomAD
UGDH	O60701	p.Thr461Lys	rs749809838	missense variant	-	NC_000004.12:g.39500246G>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Thr461Ile	rs749809838	missense variant	-	NC_000004.12:g.39500246G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Thr461Arg	rs749809838	missense variant	-	NC_000004.12:g.39500246G>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile462Val	rs1048654784	missense variant	-	NC_000004.12:g.39500244T>C	TOPMed,gnomAD
UGDH	O60701	p.Val466Met	rs750080424	missense variant	-	NC_000004.12:g.39500232C>T	NCI-TCGA
UGDH	O60701	p.Val466Leu	rs750080424	missense variant	-	NC_000004.12:g.39500232C>A	ExAC,gnomAD
UGDH	O60701	p.Val466Met	rs750080424	missense variant	-	NC_000004.12:g.39500232C>T	ExAC,gnomAD
UGDH	O60701	p.Lys469Glu	rs767319348	missense variant	-	NC_000004.12:g.39500223T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys469Gln	rs767319348	missense variant	-	NC_000004.12:g.39500223T>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg470Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39500219C>A	NCI-TCGA
UGDH	O60701	p.Ile471Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39500217T>G	NCI-TCGA
UGDH	O60701	p.Pro472Ala	rs757002418	missense variant	-	NC_000004.12:g.39500214G>C	ExAC,gnomAD
UGDH	O60701	p.Tyr473His	rs1337082775	missense variant	-	NC_000004.12:g.39500211A>G	TOPMed
UGDH	O60701	p.Pro475Ser	rs146932231	missense variant	-	NC_000004.12:g.39500205G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ser476Phe	rs763664159	missense variant	-	NC_000004.12:g.39500201G>A	ExAC,gnomAD
UGDH	O60701	p.Gly477Ser	rs760852204	missense variant	-	NC_000004.12:g.39500199C>T	ExAC,gnomAD
UGDH	O60701	p.Ile479Phe	rs1279344897	missense variant	-	NC_000004.12:g.39500193T>A	gnomAD
UGDH	O60701	p.Pro480Ser	rs775554067	missense variant	-	NC_000004.12:g.39500190G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Pro480Leu	rs764992651	missense variant	-	NC_000004.12:g.39500189G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Pro480Thr	rs775554067	missense variant	-	NC_000004.12:g.39500190G>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Phe482Val	rs1239210469	missense variant	-	NC_000004.12:g.39500184A>C	gnomAD
UGDH	O60701	p.Phe482Tyr	rs1373738864	missense variant	-	NC_000004.12:g.39500183A>T	gnomAD
UGDH	O60701	p.Phe482Cys	rs1373738864	missense variant	-	NC_000004.12:g.39500183A>C	gnomAD
UGDH	O60701	p.Ser483Asn	rs1280951409	missense variant	-	NC_000004.12:g.39500180C>T	gnomAD
UGDH	O60701	p.Leu484Phe	COSM119730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39500178G>A	NCI-TCGA Cosmic
UGDH	O60701	p.Pro487Thr	rs1339369402	missense variant	-	NC_000004.12:g.39500169G>T	gnomAD
UGDH	O60701	p.Pro488Ser	rs772229766	missense variant	-	NC_000004.12:g.39500166G>A	ExAC,gnomAD
UGDH	O60701	p.Asn489Lys	rs762039752	missense variant	-	NC_000004.12:g.39500161G>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys491Arg	rs1359236936	missense variant	-	NC_000004.12:g.39500156T>C	gnomAD
UGDH	O60701	p.Pro492Thr	rs1158537408	missense variant	-	NC_000004.12:g.39500154G>T	gnomAD
UGDH	O60701	p.Lys6Arg	rs767490233	missense variant	-	NC_000004.12:g.39521496T>C	ExAC,gnomAD
UGDH	O60701	p.Ile7Leu	rs761771847	missense variant	-	NC_000004.12:g.39521494T>G	ExAC,gnomAD
UGDH	O60701	p.Ile7Phe	rs761771847	missense variant	-	NC_000004.12:g.39521494T>A	ExAC,gnomAD
UGDH	O60701	p.Cys9Phe	rs773970612	missense variant	-	NC_000004.12:g.39521487C>A	ExAC,gnomAD
UGDH	O60701	p.Gly13Asp	rs759610662	missense variant	-	NC_000004.12:g.39521475C>T	ExAC,gnomAD
UGDH	O60701	p.Tyr14Cys	rs369608407	missense variant	-	NC_000004.12:g.39521472T>C	ESP,ExAC,gnomAD
UGDH	O60701	p.Cys20Tyr	rs773827332	missense variant	-	NC_000004.12:g.39521454C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile23Val	rs772663434	missense variant	-	NC_000004.12:g.39521446T>C	ExAC,gnomAD
UGDH	O60701	p.Ala24Ser	rs1306655122	missense variant	-	NC_000004.12:g.39521443C>A	TOPMed
UGDH	O60701	p.Met26Thr	rs947588957	missense variant	-	NC_000004.12:g.39521436A>G	TOPMed,gnomAD
UGDH	O60701	p.Met26Lys	rs947588957	missense variant	-	NC_000004.12:g.39521436A>T	TOPMed,gnomAD
UGDH	O60701	p.Arg31Lys	rs779084607	missense variant	-	NC_000004.12:g.39521421C>T	ExAC,gnomAD
UGDH	O60701	p.Val32Ile	rs1025047581	missense variant	-	NC_000004.12:g.39521419C>T	TOPMed
UGDH	O60701	p.Thr33Met	rs145763615	missense variant	-	NC_000004.12:g.39521415G>A	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val35Ile	rs1299204864	missense variant	-	NC_000004.12:g.39521410C>T	gnomAD
UGDH	O60701	p.Asn38Ser	rs928688123	missense variant	-	NC_000004.12:g.39521400T>C	TOPMed,gnomAD
UGDH	O60701	p.Asn43Ser	rs1253201158	missense variant	-	NC_000004.12:g.39521385T>C	TOPMed
UGDH	O60701	p.Ala44Val	rs749975104	missense variant	-	NC_000004.12:g.39521382G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asn46Asp	rs1388970611	missense variant	-	NC_000004.12:g.39521377T>C	gnomAD
UGDH	O60701	p.Leu50Val	rs763792474	missense variant	-	NC_000004.12:g.39521365G>C	ExAC,gnomAD
UGDH	O60701	p.Ile52Val	rs762867803	missense variant	-	NC_000004.12:g.39521359T>C	ExAC,gnomAD
UGDH	O60701	p.Pro55Ser	rs752500252	missense variant	-	NC_000004.12:g.39514184G>A	ExAC,gnomAD
UGDH	O60701	p.Glu59Asp	rs765143424	missense variant	-	NC_000004.12:g.39514170T>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val61Ile	rs760920354	missense variant	-	NC_000004.12:g.39514166C>T	ExAC,gnomAD
UGDH	O60701	p.Arg65Ter	rs200059198	stop gained	-	NC_000004.12:g.39514154G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg65Gln	rs767697391	missense variant	-	NC_000004.12:g.39514153C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Leu69Ile	rs140219602	missense variant	-	NC_000004.12:g.39514142G>T	ESP,ExAC,gnomAD
UGDH	O60701	p.Ser72Pro	rs769243823	missense variant	-	NC_000004.12:g.39514133A>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Thr73Ser	rs1446226540	missense variant	-	NC_000004.12:g.39514129G>C	gnomAD
UGDH	O60701	p.Asn74Ser	rs775776023	missense variant	-	NC_000004.12:g.39514126T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asp76Tyr	rs1489618454	missense variant	-	NC_000004.12:g.39514121C>A	gnomAD
UGDH	O60701	p.Ala78Thr	rs745515782	missense variant	-	NC_000004.12:g.39514115C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile79Val	rs776324809	missense variant	-	NC_000004.12:g.39514112T>C	ExAC,gnomAD
UGDH	O60701	p.Asp83Asn	rs777181206	missense variant	-	NC_000004.12:g.39514100C>T	ExAC,gnomAD
UGDH	O60701	p.Asp83Gly	rs1260873652	missense variant	-	NC_000004.12:g.39514099T>C	TOPMed
UGDH	O60701	p.Asp83His	rs777181206	missense variant	-	NC_000004.12:g.39514100C>G	ExAC,gnomAD
UGDH	O60701	p.Val85Ile	rs187460266	missense variant	-	NC_000004.12:g.39514094C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val85Leu	rs187460266	missense variant	-	NC_000004.12:g.39514094C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asn90Thr	rs113565151	missense variant	-	NC_000004.12:g.39510857T>G	ExAC,gnomAD
UGDH	O60701	p.Asn90Ser	rs113565151	missense variant	-	NC_000004.12:g.39510857T>C	ExAC,gnomAD
UGDH	O60701	p.Pro92Ser	rs1389276038	missense variant	-	NC_000004.12:g.39510852G>A	gnomAD
UGDH	O60701	p.Thr93Arg	rs1400737927	missense variant	-	NC_000004.12:g.39510848G>C	gnomAD
UGDH	O60701	p.Lys94Asn	rs1172635390	missense variant	-	NC_000004.12:g.39510844T>A	gnomAD
UGDH	O60701	p.Tyr96Cys	rs375953801	missense variant	-	NC_000004.12:g.39510839T>C	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys100Asn	rs1428096648	missense variant	-	NC_000004.12:g.39510826T>G	gnomAD
UGDH	O60701	p.Arg102Gln	rs757450293	missense variant	-	NC_000004.12:g.39510821C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg102Trp	rs779742282	missense variant	-	NC_000004.12:g.39510822G>A	ExAC,gnomAD
UGDH	O60701	p.Ala104Val	rs1420419492	missense variant	-	NC_000004.12:g.39510815G>A	TOPMed,gnomAD
UGDH	O60701	p.Lys107Ter	rs751736713	stop gained	-	NC_000004.12:g.39510807T>A	ExAC,gnomAD
UGDH	O60701	p.Ala111Val	rs568964757	missense variant	-	NC_000004.12:g.39510794G>A	1000Genomes,ExAC,gnomAD
UGDH	O60701	p.Arg115His	rs202045254	missense variant	-	NC_000004.12:g.39510782C>T	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg115Cys	rs140504706	missense variant	-	NC_000004.12:g.39510783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg115Leu	rs202045254	missense variant	-	NC_000004.12:g.39510782C>A	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val117Leu	rs1263944470	missense variant	-	NC_000004.12:g.39510777C>G	gnomAD
UGDH	O60701	p.Gln118Arg	rs1221194267	missense variant	-	NC_000004.12:g.39510773T>C	TOPMed,gnomAD
UGDH	O60701	p.Gln118Leu	rs1221194267	missense variant	-	NC_000004.12:g.39510773T>A	TOPMed,gnomAD
UGDH	O60701	p.Asn119Asp	rs1371247878	missense variant	-	NC_000004.12:g.39510771T>C	gnomAD
UGDH	O60701	p.Asn121His	rs766669367	missense variant	-	NC_000004.12:g.39510765T>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asn121Asp	rs766669367	missense variant	-	NC_000004.12:g.39510765T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys124Glu	rs1333300842	missense variant	-	NC_000004.12:g.39510756T>C	gnomAD
UGDH	O60701	p.Ile125Met	rs760304916	missense variant	-	NC_000004.12:g.39510751A>C	ExAC,gnomAD
UGDH	O60701	p.Thr127Pro	rs1405123351	missense variant	-	NC_000004.12:g.39510747T>G	gnomAD
UGDH	O60701	p.Val132Ile	rs111337616	missense variant	-	NC_000004.12:g.39510732C>T	TOPMed
UGDH	O60701	p.Val132Phe	rs111337616	missense variant	-	NC_000004.12:g.39510732C>A	TOPMed
UGDH	O60701	p.Val132Gly	rs771593403	missense variant	-	NC_000004.12:g.39510731A>C	ExAC,gnomAD
UGDH	O60701	p.Pro133Leu	rs761454872	missense variant	-	NC_000004.12:g.39510728G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val134Ala	rs1439780087	missense variant	-	NC_000004.12:g.39510725A>G	gnomAD
UGDH	O60701	p.Val134Gly	rs1439780087	missense variant	-	NC_000004.12:g.39510725A>C	gnomAD
UGDH	O60701	p.Arg135Trp	rs768674438	missense variant	-	NC_000004.12:g.39510723G>A	ExAC,gnomAD
UGDH	O60701	p.Arg135Gln	rs1182319939	missense variant	-	NC_000004.12:g.39510722C>T	gnomAD
UGDH	O60701	p.Ile140Val	rs749259185	missense variant	-	NC_000004.12:g.39510708T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg141His	rs769545929	missense variant	-	NC_000004.12:g.39510704C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg141Cys	rs115137663	missense variant	-	NC_000004.12:g.39510705G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg141Leu	rs769545929	missense variant	-	NC_000004.12:g.39510704C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg142Cys	rs747242250	missense variant	-	NC_000004.12:g.39510702G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg142His	rs368044471	missense variant	-	NC_000004.12:g.39510701C>T	ExAC,gnomAD
UGDH	O60701	p.Ile143Val	rs1355977627	missense variant	-	NC_000004.12:g.39510699T>C	gnomAD
UGDH	O60701	p.Asp145Val	rs1450410640	missense variant	-	NC_000004.12:g.39510692T>A	gnomAD
UGDH	O60701	p.Ala146Gly	rs1381741430	missense variant	-	NC_000004.12:g.39510689G>C	gnomAD
UGDH	O60701	p.Thr148Ala	rs752737840	missense variant	-	NC_000004.12:g.39510684T>C	ExAC,gnomAD
UGDH	O60701	p.Asn151Thr	rs778991709	missense variant	-	NC_000004.12:g.39510674T>G	ExAC,gnomAD
UGDH	O60701	p.Leu154Phe	rs754301626	missense variant	-	NC_000004.12:g.39510664T>G	ExAC,gnomAD
UGDH	O60701	p.Gln155Ter	rs1381665298	stop gained	-	NC_000004.12:g.39510663G>A	gnomAD
UGDH	O60701	p.Gln155Arg	rs766757605	missense variant	-	NC_000004.12:g.39510662T>C	ExAC,gnomAD
UGDH	O60701	p.Asn159Ser	rs375062099	missense variant	-	NC_000004.12:g.39510540T>C	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Pro160Ser	rs772235942	missense variant	-	NC_000004.12:g.39510538G>A	ExAC,gnomAD
UGDH	O60701	p.Ala164Glu	rs1427070347	missense variant	-	NC_000004.12:g.39510525G>T	gnomAD
UGDH	O60701	p.Gly166Ter	rs748387130	stop gained	-	NC_000004.12:g.39510520C>A	ExAC,gnomAD
UGDH	O60701	p.Thr167Ile	rs755113560	missense variant	-	NC_000004.12:g.39510516G>A	ExAC,gnomAD
UGDH	O60701	p.Lys170Arg	rs908289507	missense variant	-	NC_000004.12:g.39510507T>C	gnomAD
UGDH	O60701	p.Asp171Asn	rs1288573479	missense variant	-	NC_000004.12:g.39510505C>T	gnomAD
UGDH	O60701	p.Pro175Thr	rs756467468	missense variant	-	NC_000004.12:g.39510493G>T	ExAC,gnomAD
UGDH	O60701	p.Asp176Glu	rs1305524531	missense variant	-	NC_000004.12:g.39510488G>C	gnomAD
UGDH	O60701	p.Asp176Gly	rs1223728130	missense variant	-	NC_000004.12:g.39510489T>C	gnomAD
UGDH	O60701	p.Ile180Thr	rs768014546	missense variant	-	NC_000004.12:g.39510477A>G	ExAC,gnomAD
UGDH	O60701	p.Gly182Arg	rs527756813	missense variant	-	NC_000004.12:g.39510472C>T	1000Genomes,ExAC,gnomAD
UGDH	O60701	p.Thr185Ile	rs948466547	missense variant	-	NC_000004.12:g.39510462G>A	TOPMed
UGDH	O60701	p.Gln189Arg	rs1282156495	missense variant	-	NC_000004.12:g.39510450T>C	TOPMed
UGDH	O60701	p.Arg190Ile	rs751260541	missense variant	-	NC_000004.12:g.39510447C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ala191Ser	rs763685293	missense variant	-	NC_000004.12:g.39510445C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Gln193Ter	rs894232451	stop gained	-	NC_000004.12:g.39510439G>A	TOPMed
UGDH	O60701	p.Ala194Val	rs144192248	missense variant	-	NC_000004.12:g.39510435G>A	ESP,ExAC,gnomAD
UGDH	O60701	p.Ala194Thr	rs1443799790	missense variant	-	NC_000004.12:g.39510436C>T	gnomAD
UGDH	O60701	p.Leu195Pro	rs1171919565	missense variant	-	NC_000004.12:g.39510432A>G	gnomAD
UGDH	O60701	p.Cys196Trp	rs775468206	missense variant	-	NC_000004.12:g.39510428A>C	ExAC,gnomAD
UGDH	O60701	p.Val198Ile	rs1427393045	missense variant	-	NC_000004.12:g.39510424C>T	gnomAD
UGDH	O60701	p.Glu200Asp	rs1463142555	missense variant	-	NC_000004.12:g.39510416C>A	TOPMed
UGDH	O60701	p.His201Arg	rs1199000393	missense variant	-	NC_000004.12:g.39510414T>C	TOPMed,gnomAD
UGDH	O60701	p.His201Gln	rs765048353	missense variant	-	NC_000004.12:g.39510413G>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Val203Ile	rs1054657510	missense variant	-	NC_000004.12:g.39510409C>T	TOPMed
UGDH	O60701	p.Arg205Thr	rs933655472	missense variant	-	NC_000004.12:g.39510402C>G	gnomAD
UGDH	O60701	p.Glu206Gly	rs778486297	missense variant	-	NC_000004.12:g.39510399T>C	TOPMed
UGDH	O60701	p.Ile208Phe	rs776235593	missense variant	-	NC_000004.12:g.39510394T>A	ExAC,gnomAD
UGDH	O60701	p.Thr211Asn	rs770721281	missense variant	-	NC_000004.12:g.39510384G>T	ExAC,gnomAD
UGDH	O60701	p.Asn212Asp	rs1319762440	missense variant	-	NC_000004.12:g.39510382T>C	gnomAD
UGDH	O60701	p.Ser216Ter	rs774610502	stop gained	-	NC_000004.12:g.39510369G>T	ExAC,gnomAD
UGDH	O60701	p.Ala223Glu	rs1352368485	missense variant	-	NC_000004.12:g.39509903G>T	gnomAD
UGDH	O60701	p.Ala228Ser	rs1450230376	missense variant	-	NC_000004.12:g.39509889C>A	TOPMed
UGDH	O60701	p.Gln229Lys	rs1243008711	missense variant	-	NC_000004.12:g.39509886G>T	gnomAD
UGDH	O60701	p.Ile234Val	rs763881954	missense variant	-	NC_000004.12:g.39509871T>C	ExAC,gnomAD
UGDH	O60701	p.Ile237Met	rs1396973439	missense variant	-	NC_000004.12:g.39509860T>C	gnomAD
UGDH	O60701	p.Ile237Val	rs1333993203	missense variant	-	NC_000004.12:g.39509862T>C	TOPMed,gnomAD
UGDH	O60701	p.Leu240Met	rs1287358288	missense variant	-	NC_000004.12:g.39509853G>T	gnomAD
UGDH	O60701	p.Thr244Ala	rs1453094335	missense variant	-	NC_000004.12:g.39509841T>C	gnomAD
UGDH	O60701	p.Asp247Val	rs139554286	missense variant	-	NC_000004.12:g.39509831T>A	ESP,ExAC,TOPMed
UGDH	O60701	p.Asp247Asn	rs1457035532	missense variant	-	NC_000004.12:g.39509832C>T	gnomAD
UGDH	O60701	p.Asp247Glu	rs1413039249	missense variant	-	NC_000004.12:g.39509830A>T	TOPMed,gnomAD
UGDH	O60701	p.Ala252Thr	rs1159158609	missense variant	-	NC_000004.12:g.39509817C>T	gnomAD
UGDH	O60701	p.Ile255Thr	rs1186496501	missense variant	-	NC_000004.12:g.39509807A>G	gnomAD
UGDH	O60701	p.Met257Lys	rs759328854	missense variant	-	NC_000004.12:g.39509801A>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ala268Ser	rs766146242	missense variant	-	NC_000004.12:g.39509769C>A	ExAC,gnomAD
UGDH	O60701	p.Ser269Asn	rs760508476	missense variant	-	NC_000004.12:g.39509765C>T	ExAC,gnomAD
UGDH	O60701	p.Gln278Arg	rs1273664472	missense variant	-	NC_000004.12:g.39508639T>C	TOPMed,gnomAD
UGDH	O60701	p.Asn283Asp	rs1423831672	missense variant	-	NC_000004.12:g.39508625T>C	gnomAD
UGDH	O60701	p.Cys288Tyr	rs985297316	missense variant	-	NC_000004.12:g.39508609C>T	gnomAD
UGDH	O60701	p.Ala290Val	rs776883283	missense variant	-	NC_000004.12:g.39508603G>A	ExAC,gnomAD
UGDH	O60701	p.Arg298His	rs968491131	missense variant	-	NC_000004.12:g.39508579C>T	TOPMed,gnomAD
UGDH	O60701	p.Arg298Cys	rs199986130	missense variant	-	NC_000004.12:g.39508580G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile304Thr	rs1464295100	missense variant	-	NC_000004.12:g.39505744A>G	gnomAD
UGDH	O60701	p.Ile304Val	rs1239397498	missense variant	-	NC_000004.12:g.39505745T>C	gnomAD
UGDH	O60701	p.Met306Arg	rs1159032166	missense variant	-	NC_000004.12:g.39505738A>C	TOPMed
UGDH	O60701	p.Tyr309His	rs1333198828	missense variant	-	NC_000004.12:g.39505730A>G	gnomAD
UGDH	O60701	p.Arg313Lys	rs1317015589	missense variant	-	NC_000004.12:g.39505717C>T	TOPMed
UGDH	O60701	p.Arg317Gln	rs775162839	missense variant	-	NC_000004.12:g.39505705C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg317Trp	rs779173046	missense variant	-	NC_000004.12:g.39505706G>A	ExAC,gnomAD
UGDH	O60701	p.Lys329Asn	rs1287204329	missense variant	-	NC_000004.12:g.39505668C>G	TOPMed
UGDH	O60701	p.Ile333Leu	rs755687279	missense variant	-	NC_000004.12:g.39505658T>G	ExAC,gnomAD
UGDH	O60701	p.Gly335Arg	rs973256107	missense variant	-	NC_000004.12:g.39505652C>T	gnomAD
UGDH	O60701	p.Thr342Ser	rs1203959093	missense variant	-	NC_000004.12:g.39505630G>C	TOPMed
UGDH	O60701	p.Asp344Asn	rs1283606237	missense variant	-	NC_000004.12:g.39505625C>T	TOPMed
UGDH	O60701	p.Ser350Asn	rs1290408243	missense variant	-	NC_000004.12:g.39505359C>T	gnomAD
UGDH	O60701	p.Met358Thr	rs1479782965	missense variant	-	NC_000004.12:g.39505335A>G	TOPMed
UGDH	O60701	p.Ala362Thr	rs769271659	missense variant	-	NC_000004.12:g.39505324C>T	ExAC,gnomAD
UGDH	O60701	p.His363Arg	rs10010387	missense variant	-	NC_000004.12:g.39505320T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Leu364Val	rs543523320	missense variant	-	NC_000004.12:g.39505318G>C	1000Genomes,ExAC,TOPMed,gnomAD
UGDH	O60701	p.His365Leu	rs746926346	missense variant	-	NC_000004.12:g.39505314T>A	ExAC,gnomAD
UGDH	O60701	p.His365Gln	rs1423124119	missense variant	-	NC_000004.12:g.39505313A>T	gnomAD
UGDH	O60701	p.Lys370Thr	rs777622665	missense variant	-	NC_000004.12:g.39505299T>G	ExAC,gnomAD
UGDH	O60701	p.Lys370Glu	rs1171698535	missense variant	-	NC_000004.12:g.39505300T>C	TOPMed,gnomAD
UGDH	O60701	p.Val378Met	rs1370929186	missense variant	-	NC_000004.12:g.39505276C>T	TOPMed
UGDH	O60701	p.Ser381Tyr	rs1461226039	missense variant	-	NC_000004.12:g.39505266G>T	TOPMed
UGDH	O60701	p.His382Gln	rs766743798	missense variant	-	NC_000004.12:g.39505262A>C	ExAC
UGDH	O60701	p.Gly384Val	rs750465337	missense variant	-	NC_000004.12:g.39505257C>A	ExAC,gnomAD
UGDH	O60701	p.Gly384Arg	rs182948898	missense variant	-	NC_000004.12:g.39505258C>G	1000Genomes,gnomAD
UGDH	O60701	p.Gly384Ser	rs182948898	missense variant	-	NC_000004.12:g.39505258C>T	1000Genomes,gnomAD
UGDH	O60701	p.Val385Ile	rs372994324	missense variant	-	NC_000004.12:g.39505255C>T	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ser386Ter	rs762313199	stop gained	-	NC_000004.12:g.39505251G>T	ExAC,gnomAD
UGDH	O60701	p.Asp389Gly	rs1407273373	missense variant	-	NC_000004.12:g.39505242T>C	TOPMed
UGDH	O60701	p.Gln390His	rs774785564	missense variant	-	NC_000004.12:g.39505238T>G	ExAC,gnomAD
UGDH	O60701	p.Arg393Trp	rs113094436	missense variant	-	NC_000004.12:g.39504503G>A	1000Genomes,ExAC,gnomAD
UGDH	O60701	p.Arg393Gln	rs1481372223	missense variant	-	NC_000004.12:g.39504502C>T	gnomAD
UGDH	O60701	p.Leu394Pro	rs1420139288	missense variant	-	NC_000004.12:g.39504499A>G	gnomAD
UGDH	O60701	p.Val395Met	rs752083244	missense variant	-	NC_000004.12:g.39504497C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys399Thr	rs763473129	missense variant	-	NC_000004.12:g.39504484T>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys399Arg	rs763473129	missense variant	-	NC_000004.12:g.39504484T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asp400Val	rs770011021	missense variant	-	NC_000004.12:g.39504481T>A	TOPMed
UGDH	O60701	p.Asp400Asn	rs1238675111	missense variant	-	NC_000004.12:g.39504482C>T	TOPMed,gnomAD
UGDH	O60701	p.Asp400Gly	rs770011021	missense variant	-	NC_000004.12:g.39504481T>C	TOPMed
UGDH	O60701	p.Tyr402His	rs899094826	missense variant	-	NC_000004.12:g.39504476A>G	TOPMed
UGDH	O60701	p.Asp406Gly	rs753003368	missense variant	-	NC_000004.12:g.39504463T>C	ExAC,gnomAD
UGDH	O60701	p.Gly407Asp	rs765591985	missense variant	-	NC_000004.12:g.39504460C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ala408Thr	rs776207068	missense variant	-	NC_000004.12:g.39504458C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ala408Ser	rs776207068	missense variant	-	NC_000004.12:g.39504458C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ala410Ser	rs770456604	missense variant	-	NC_000004.12:g.39504452C>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Glu416Asp	rs141970383	missense variant	-	NC_000004.12:g.39504432C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Glu416Ter	rs1361014385	stop gained	-	NC_000004.12:g.39504434C>A	gnomAD
UGDH	O60701	p.Met419Ile	rs371662600	missense variant	-	NC_000004.12:g.39504423C>T	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Met419Val	rs1437820312	missense variant	-	NC_000004.12:g.39504425T>C	gnomAD
UGDH	O60701	p.Glu422Gly	rs370295255	missense variant	-	NC_000004.12:g.39503984T>C	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Glu422Lys	rs772787684	missense variant	-	NC_000004.12:g.39503985C>T	ExAC,gnomAD
UGDH	O60701	p.Glu426Lys	rs922278383	missense variant	-	NC_000004.12:g.39503973C>T	gnomAD
UGDH	O60701	p.Arg427Cys	rs148161041	missense variant	-	NC_000004.12:g.39503970G>A	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Arg427His	rs768474926	missense variant	-	NC_000004.12:g.39503969C>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys431Arg	rs147122976	missense variant	-	NC_000004.12:g.39503957T>C	ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Pro435Ala	rs1318866802	missense variant	-	NC_000004.12:g.39503946G>C	gnomAD
UGDH	O60701	p.Phe437Ser	rs1162365973	missense variant	-	NC_000004.12:g.39503939A>G	gnomAD
UGDH	O60701	p.Phe437Val	rs1388307521	missense variant	-	NC_000004.12:g.39503940A>C	gnomAD
UGDH	O60701	p.Ile438Val	rs754871857	missense variant	-	NC_000004.12:g.39503937T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asp440Asn	rs777823955	missense variant	-	NC_000004.12:g.39503931C>T	ExAC,gnomAD
UGDH	O60701	p.Arg442Trp	rs201894374	missense variant	-	NC_000004.12:g.39503925G>A	1000Genomes,gnomAD
UGDH	O60701	p.Arg443Cys	rs1195945550	missense variant	-	NC_000004.12:g.39503922G>A	gnomAD
UGDH	O60701	p.Arg443His	rs1053767552	missense variant	-	NC_000004.12:g.39503921C>T	TOPMed
UGDH	O60701	p.Val444Leu	rs748628569	missense variant	-	NC_000004.12:g.39503919C>G	ExAC,gnomAD
UGDH	O60701	p.Gly447Arg	rs1259165663	missense variant	-	NC_000004.12:g.39503910C>T	TOPMed
UGDH	O60701	p.His449Leu	rs779324355	missense variant	-	NC_000004.12:g.39503903T>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Asn450Thr	rs137877647	missense variant	-	NC_000004.12:g.39503900T>G	ESP,TOPMed,gnomAD
UGDH	O60701	p.Asn450Ser	rs137877647	missense variant	-	NC_000004.12:g.39503900T>C	ESP,TOPMed,gnomAD
UGDH	O60701	p.Glu451Val	rs1256363149	missense variant	-	NC_000004.12:g.39503897T>A	gnomAD
UGDH	O60701	p.Gln453His	rs766784095	missense variant	-	NC_000004.12:g.39503890T>G	ExAC,gnomAD
UGDH	O60701	p.Gln453Ter	rs371132377	stop gained	-	NC_000004.12:g.39503892G>A	ESP,ExAC,gnomAD
UGDH	O60701	p.Ile455Val	rs934953491	missense variant	-	NC_000004.12:g.39503886T>C	TOPMed
UGDH	O60701	p.Ile455Thr	rs755764491	missense variant	-	NC_000004.12:g.39503885A>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile459Thr	rs895364082	missense variant	-	NC_000004.12:g.39500252A>G	TOPMed,gnomAD
UGDH	O60701	p.Thr461Lys	rs749809838	missense variant	-	NC_000004.12:g.39500246G>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Thr461Ile	rs749809838	missense variant	-	NC_000004.12:g.39500246G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Thr461Arg	rs749809838	missense variant	-	NC_000004.12:g.39500246G>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ile462Val	rs1048654784	missense variant	-	NC_000004.12:g.39500244T>C	TOPMed,gnomAD
UGDH	O60701	p.Val466Leu	rs750080424	missense variant	-	NC_000004.12:g.39500232C>A	ExAC,gnomAD
UGDH	O60701	p.Val466Met	rs750080424	missense variant	-	NC_000004.12:g.39500232C>T	ExAC,gnomAD
UGDH	O60701	p.Lys469Glu	rs767319348	missense variant	-	NC_000004.12:g.39500223T>C	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys469Gln	rs767319348	missense variant	-	NC_000004.12:g.39500223T>G	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Pro472Ala	rs757002418	missense variant	-	NC_000004.12:g.39500214G>C	ExAC,gnomAD
UGDH	O60701	p.Tyr473His	rs1337082775	missense variant	-	NC_000004.12:g.39500211A>G	TOPMed
UGDH	O60701	p.Pro475Ser	rs146932231	missense variant	-	NC_000004.12:g.39500205G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
UGDH	O60701	p.Ser476Phe	rs763664159	missense variant	-	NC_000004.12:g.39500201G>A	ExAC,gnomAD
UGDH	O60701	p.Gly477Ser	rs760852204	missense variant	-	NC_000004.12:g.39500199C>T	ExAC,gnomAD
UGDH	O60701	p.Ile479Phe	rs1279344897	missense variant	-	NC_000004.12:g.39500193T>A	gnomAD
UGDH	O60701	p.Pro480Leu	rs764992651	missense variant	-	NC_000004.12:g.39500189G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Pro480Ser	rs775554067	missense variant	-	NC_000004.12:g.39500190G>A	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Pro480Thr	rs775554067	missense variant	-	NC_000004.12:g.39500190G>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Phe482Val	rs1239210469	missense variant	-	NC_000004.12:g.39500184A>C	gnomAD
UGDH	O60701	p.Phe482Tyr	rs1373738864	missense variant	-	NC_000004.12:g.39500183A>T	gnomAD
UGDH	O60701	p.Phe482Cys	rs1373738864	missense variant	-	NC_000004.12:g.39500183A>C	gnomAD
UGDH	O60701	p.Ser483Asn	rs1280951409	missense variant	-	NC_000004.12:g.39500180C>T	gnomAD
UGDH	O60701	p.Pro487Thr	rs1339369402	missense variant	-	NC_000004.12:g.39500169G>T	gnomAD
UGDH	O60701	p.Pro488Ser	rs772229766	missense variant	-	NC_000004.12:g.39500166G>A	ExAC,gnomAD
UGDH	O60701	p.Asn489Lys	rs762039752	missense variant	-	NC_000004.12:g.39500161G>T	ExAC,TOPMed,gnomAD
UGDH	O60701	p.Lys491Arg	rs1359236936	missense variant	-	NC_000004.12:g.39500156T>C	gnomAD
UGDH	O60701	p.Pro492Thr	rs1158537408	missense variant	-	NC_000004.12:g.39500154G>T	gnomAD
KCNJ13	O60928	p.Ser3Gly	rs1386527753	missense variant	-	NC_000002.12:g.232771356T>C	TOPMed
KCNJ13	O60928	p.Ser3Asn	rs779944275	missense variant	-	NC_000002.12:g.232771355C>T	ExAC,TOPMed
KCNJ13	O60928	p.Ser4Gly	rs1297475332	missense variant	-	NC_000002.12:g.232771353T>C	TOPMed
KCNJ13	O60928	p.Asn5Lys	rs1019872986	missense variant	-	NC_000002.12:g.232771348A>C	TOPMed
KCNJ13	O60928	p.Cys6Ser	rs140557196	missense variant	-	NC_000002.12:g.232771346C>G	ESP,ExAC,gnomAD
KCNJ13	O60928	p.Lys7Arg	rs781442689	missense variant	-	NC_000002.12:g.232771343T>C	ExAC,gnomAD
KCNJ13	O60928	p.Val8Leu	rs757516316	missense variant	-	NC_000002.12:g.232771341C>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Val8Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232771340A>C	NCI-TCGA
KCNJ13	O60928	p.Ile9Met	rs143726189	missense variant	-	NC_000002.12:g.232771336A>C	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ile9Thr	rs752474252	missense variant	-	NC_000002.12:g.232771337A>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu12Val	rs951223853	missense variant	-	NC_000002.12:g.232771329G>C	TOPMed
KCNJ13	O60928	p.Leu13Val	rs1262517271	missense variant	-	NC_000002.12:g.232771326G>C	TOPMed
KCNJ13	O60928	p.Leu13Pro	rs1344890602	missense variant	-	NC_000002.12:g.232771325A>G	gnomAD
KCNJ13	O60928	p.Arg16Lys	rs1308748448	missense variant	-	NC_000002.12:g.232771316C>T	gnomAD
KCNJ13	O60928	p.Tyr17His	rs1393312729	missense variant	-	NC_000002.12:g.232771314A>G	gnomAD
KCNJ13	O60928	p.Arg18Gln	rs144268831	missense variant	-	NC_000002.12:g.232771310C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg18Trp	rs753827612	missense variant	-	NC_000002.12:g.232771311G>A	ExAC,gnomAD
KCNJ13	O60928	p.Thr22Ile	rs1216035247	missense variant	-	NC_000002.12:g.232771298G>A	TOPMed
KCNJ13	O60928	p.Lys23Asn	rs1261649348	missense variant	-	NC_000002.12:g.232771294C>G	TOPMed
KCNJ13	O60928	p.Asp24Tyr	rs760202322	missense variant	-	NC_000002.12:g.232771293C>A	ExAC,gnomAD
KCNJ13	O60928	p.Gly25Asp	rs1174827664	missense variant	-	NC_000002.12:g.232771289C>T	gnomAD
KCNJ13	O60928	p.Leu29Phe	rs376151051	missense variant	-	NC_000002.12:g.232771278G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Met31Ile	rs539369632	missense variant	-	NC_000002.12:g.232771270C>T	ExAC,gnomAD
KCNJ13	O60928	p.Ala34Ser	rs769160785	missense variant	-	NC_000002.12:g.232771263C>A	ExAC,gnomAD
KCNJ13	O60928	p.Arg36Gly	rs1345387152	missense variant	-	NC_000002.12:g.232771257T>C	gnomAD
KCNJ13	O60928	p.Gly37Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232771253C>T	NCI-TCGA
KCNJ13	O60928	p.Leu38Val	rs776091698	missense variant	-	NC_000002.12:g.232771251G>C	ExAC,gnomAD
KCNJ13	O60928	p.Ala39Gly	rs1221570072	missense variant	-	NC_000002.12:g.232771247G>C	TOPMed,gnomAD
KCNJ13	O60928	p.Leu41Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232771242G>A	NCI-TCGA
KCNJ13	O60928	p.Arg42Ter	rs200415013	stop gained	-	NC_000002.12:g.232771239G>A	gnomAD
KCNJ13	O60928	p.Asp43Ala	COSM1017866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771235T>G	NCI-TCGA Cosmic
KCNJ13	O60928	p.Ala44Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232771232G>A	NCI-TCGA
KCNJ13	O60928	p.Gly46Glu	rs894185751	missense variant	-	NC_000002.12:g.232771226C>T	TOPMed
KCNJ13	O60928	p.Ile47Leu	COSM3579128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771224T>G	NCI-TCGA Cosmic
KCNJ13	O60928	p.Ile47Thr	rs745935897	missense variant	-	NC_000002.12:g.232771223A>G	ExAC,gnomAD
KCNJ13	O60928	p.Met49Thr	rs771136440	missense variant	-	NC_000002.12:g.232771217A>G	ExAC,gnomAD
KCNJ13	O60928	p.Asp50Val	rs1396840547	missense variant	-	NC_000002.12:g.232771214T>A	TOPMed,gnomAD
KCNJ13	O60928	p.Asp50Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232771215C>T	NCI-TCGA
KCNJ13	O60928	p.Met51Thr	rs1335177310	missense variant	-	NC_000002.12:g.232771211A>G	gnomAD
KCNJ13	O60928	p.Met51Val	rs747234040	missense variant	-	NC_000002.12:g.232771212T>C	ExAC,gnomAD
KCNJ13	O60928	p.Arg52His	rs1293854136	missense variant	-	NC_000002.12:g.232771208C>T	TOPMed
KCNJ13	O60928	p.Trp53Ter	RCV000210439	nonsense	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232771205C>T	ClinVar
KCNJ13	O60928	p.Trp53Ter	rs869320631	stop gained	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232771205C>T	-
KCNJ13	O60928	p.Arg54His	COSM5058737	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771202C>T	NCI-TCGA Cosmic
KCNJ13	O60928	p.Met57Ile	rs754789407	missense variant	-	NC_000002.12:g.232771192C>T	ExAC,gnomAD
KCNJ13	O60928	p.Met57Thr	rs1413398896	missense variant	-	NC_000002.12:g.232771193A>G	TOPMed,gnomAD
KCNJ13	O60928	p.Val65Phe	rs753616368	missense variant	-	NC_000002.12:g.232771170C>A	ExAC,gnomAD
KCNJ13	O60928	p.Trp68Ter	rs1003135933	stop gained	-	NC_000002.12:g.232771159C>T	TOPMed,gnomAD
KCNJ13	O60928	p.Val70Phe	rs749946210	missense variant	-	NC_000002.12:g.232771155C>A	ExAC,gnomAD
KCNJ13	O60928	p.Val70ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.232771156_232771157insCAACTCACAATTGGTT	NCI-TCGA
KCNJ13	O60928	p.Ala72Ser	rs77818131	missense variant	-	NC_000002.12:g.232771149C>A	ExAC,gnomAD
KCNJ13	O60928	p.Val73Ala	rs761501599	missense variant	-	NC_000002.12:g.232771145A>G	ExAC
KCNJ13	O60928	p.Val73Met	rs1225523589	missense variant	-	NC_000002.12:g.232771146C>T	TOPMed,gnomAD
KCNJ13	O60928	p.Trp75Ter	rs1348552377	stop gained	-	NC_000002.12:g.232771138C>T	gnomAD
KCNJ13	O60928	p.Val77Ala	COSM1406258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771133A>G	NCI-TCGA Cosmic
KCNJ13	O60928	p.Leu78Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232771130A>G	NCI-TCGA
KCNJ13	O60928	p.Ala79Gly	rs1362171485	missense variant	-	NC_000002.12:g.232771127G>C	TOPMed
KCNJ13	O60928	p.Ala79Thr	rs1279038422	missense variant	-	NC_000002.12:g.232771128C>T	gnomAD
KCNJ13	O60928	p.Glu80Lys	rs374810770	missense variant	-	NC_000002.12:g.232771125C>T	ESP
KCNJ13	O60928	p.Met81Ile	COSM3838853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771120C>A	NCI-TCGA Cosmic
KCNJ13	O60928	p.Met81Thr	rs371256707	missense variant	-	NC_000002.12:g.232771121A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Asn82Ile	rs764509761	missense variant	-	NC_000002.12:g.232771118T>A	ExAC,gnomAD
KCNJ13	O60928	p.Gly83Asp	rs763341185	missense variant	-	NC_000002.12:g.232771115C>T	ExAC,gnomAD
KCNJ13	O60928	p.Gly83Ser	rs1313340677	missense variant	-	NC_000002.12:g.232771116C>T	gnomAD
KCNJ13	O60928	p.Asp84Asn	COSM3798757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771113C>T	NCI-TCGA Cosmic
KCNJ13	O60928	p.His89Tyr	rs1487693818	missense variant	-	NC_000002.12:g.232771098G>A	TOPMed
KCNJ13	O60928	p.Asp90Gly	rs183766886	missense variant	-	NC_000002.12:g.232771094T>C	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Asp90Val	rs183766886	missense variant	-	NC_000002.12:g.232771094T>A	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Asp90Glu	rs907341776	missense variant	-	NC_000002.12:g.232771093A>C	TOPMed
KCNJ13	O60928	p.Asp90Asn	COSM5735150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771095C>T	NCI-TCGA Cosmic
KCNJ13	O60928	p.Asp90Tyr	rs1179391592	missense variant	-	NC_000002.12:g.232771095C>A	TOPMed
KCNJ13	O60928	p.Ala91Thr	rs991734668	missense variant	-	NC_000002.12:g.232771092C>T	-
KCNJ13	O60928	p.Ala91Val	rs1177395186	missense variant	-	NC_000002.12:g.232771091G>A	TOPMed
KCNJ13	O60928	p.Pro92HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.232771088G>-	NCI-TCGA
KCNJ13	O60928	p.Pro93Leu	rs1377986601	missense variant	-	NC_000002.12:g.232771085G>A	TOPMed
KCNJ13	O60928	p.His96Gln	rs1042298486	missense variant	-	NC_000002.12:g.232771075G>T	TOPMed
KCNJ13	O60928	p.Ile98Val	rs760027526	missense variant	-	NC_000002.12:g.232771071T>C	ExAC,gnomAD
KCNJ13	O60928	p.Ile98Thr	rs1165371214	missense variant	-	NC_000002.12:g.232771070A>G	TOPMed
KCNJ13	O60928	p.Ile98Phe	rs760027526	missense variant	-	NC_000002.12:g.232771071T>A	ExAC,gnomAD
KCNJ13	O60928	p.Ile98ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.232771068_232771071AGAT>-	NCI-TCGA
KCNJ13	O60928	p.Val100Asp	rs1382097055	missense variant	-	NC_000002.12:g.232771064A>T	TOPMed,gnomAD
KCNJ13	O60928	p.Val100Ala	rs1382097055	missense variant	-	NC_000002.12:g.232771064A>G	TOPMed,gnomAD
KCNJ13	O60928	p.Tyr102His	rs1456196159	missense variant	-	NC_000002.12:g.232771059A>G	TOPMed
KCNJ13	O60928	p.Tyr102Cys	rs776705101	missense variant	-	NC_000002.12:g.232771058T>C	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu114Pro	rs1401218860	missense variant	-	NC_000002.12:g.232771022A>G	TOPMed
KCNJ13	O60928	p.Gln117Arg	VAR_066488	Missense	Leber congenital amaurosis 16 (LCA16) [MIM:614186]	-	UniProt
KCNJ13	O60928	p.Ile120Thr	rs786205550	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232771004A>G	gnomAD
KCNJ13	O60928	p.Ile120Val	rs946261593	missense variant	-	NC_000002.12:g.232771005T>C	TOPMed,gnomAD
KCNJ13	O60928	p.Ile120Thr	RCV000210435	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232771004A>G	ClinVar
KCNJ13	O60928	p.Gly123Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232770996C>T	NCI-TCGA
KCNJ13	O60928	p.Thr124Ile	rs1181517529	missense variant	-	NC_000002.12:g.232770992G>A	gnomAD
KCNJ13	O60928	p.Ser128Gly	rs1385052216	missense variant	-	NC_000002.12:g.232770981T>C	TOPMed
KCNJ13	O60928	p.Cys131Tyr	rs777940941	missense variant	-	NC_000002.12:g.232770971C>T	ExAC,gnomAD
KCNJ13	O60928	p.Ala136Thr	rs749097137	missense variant	-	NC_000002.12:g.232770957C>T	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ala136Val	rs779781039	missense variant	-	NC_000002.12:g.232770956G>A	ExAC,gnomAD
KCNJ13	O60928	p.Ala139Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232770947G>C	NCI-TCGA
KCNJ13	O60928	p.Ile140Thr	rs1283588724	missense variant	-	NC_000002.12:g.232770944A>G	gnomAD
KCNJ13	O60928	p.Leu144Pro	rs1361858388	missense variant	-	NC_000002.12:g.232770932A>G	gnomAD
KCNJ13	O60928	p.Glu149Gly	rs1366295731	missense variant	-	NC_000002.12:g.232770917T>C	gnomAD
KCNJ13	O60928	p.Ala150Thr	rs1457904833	missense variant	-	NC_000002.12:g.232770915C>T	TOPMed
KCNJ13	O60928	p.Ala150Val	rs1197652096	missense variant	-	NC_000002.12:g.232770914G>A	TOPMed
KCNJ13	O60928	p.Ile152Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232770907G>C	NCI-TCGA
KCNJ13	O60928	p.Thr153Ile	RCV000515663	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232770905G>A	ClinVar
KCNJ13	O60928	p.Thr153Ile	rs863224884	missense variant	-	NC_000002.12:g.232770905G>A	-
KCNJ13	O60928	p.Ala155Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768810G>T	NCI-TCGA
KCNJ13	O60928	p.Ala158Glu	rs727503972	missense variant	-	NC_000002.12:g.232768801G>T	ExAC,gnomAD
KCNJ13	O60928	p.Ala158Val	rs727503972	missense variant	-	NC_000002.12:g.232768801G>A	ExAC,gnomAD
KCNJ13	O60928	p.Ala158Ser	rs1346773854	missense variant	-	NC_000002.12:g.232768802C>A	gnomAD
KCNJ13	O60928	p.Ile160Ser	rs564363265	missense variant	-	NC_000002.12:g.232768795A>C	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ile160Thr	rs564363265	missense variant	-	NC_000002.12:g.232768795A>G	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ile160Asn	rs564363265	missense variant	-	NC_000002.12:g.232768795A>T	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ala161Asp	rs781248449	missense variant	-	NC_000002.12:g.232768792G>T	ExAC,gnomAD
KCNJ13	O60928	p.Arg162Pro	rs757304681	missense variant	-	NC_000002.12:g.232768789C>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg162Gln	rs757304681	missense variant	-	NC_000002.12:g.232768789C>T	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg162Gln	rs757304681	missense variant	-	NC_000002.12:g.232768789C>T	UniProt,dbSNP
KCNJ13	O60928	p.Arg162Gln	VAR_066489	missense variant	-	NC_000002.12:g.232768789C>T	UniProt
KCNJ13	O60928	p.Arg162Trp	rs121918542	missense variant	-	NC_000002.12:g.232768790G>A	gnomAD
KCNJ13	O60928	p.Arg162Trp	rs121918542	missense variant	Snowflake vitreoretinal degeneration (SVD)	NC_000002.12:g.232768790G>A	UniProt,dbSNP
KCNJ13	O60928	p.Arg162Trp	VAR_043509	missense variant	Snowflake vitreoretinal degeneration (SVD)	NC_000002.12:g.232768790G>A	UniProt
KCNJ13	O60928	p.Arg162Trp	RCV000006963	missense variant	Snowflake vitreoretinal degeneration (SVD)	NC_000002.12:g.232768790G>A	ClinVar
KCNJ13	O60928	p.Asn165LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.232768779_232768780insT	NCI-TCGA
KCNJ13	O60928	p.Arg166Ter	RCV000023266	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768778G>A	ClinVar
KCNJ13	O60928	p.Arg166Gly	rs387906858	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768778G>C	gnomAD
KCNJ13	O60928	p.Arg166Ter	rs387906858	stop gained	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768778G>A	gnomAD
KCNJ13	O60928	p.Arg166Gln	COSM261508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232768777C>T	NCI-TCGA Cosmic
KCNJ13	O60928	p.Ser169GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.232768769A>-	NCI-TCGA
KCNJ13	O60928	p.Ile170Val	rs1213413047	missense variant	-	NC_000002.12:g.232768766T>C	TOPMed
KCNJ13	O60928	p.Arg171His	rs752305262	missense variant	-	NC_000002.12:g.232768762C>T	ExAC,gnomAD
KCNJ13	O60928	p.Arg171Cys	rs147221151	missense variant	-	NC_000002.12:g.232768763G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg171Ser	rs147221151	missense variant	-	NC_000002.12:g.232768763G>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Thr175Ile	RCV000355444	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232768750G>A	ClinVar
KCNJ13	O60928	p.Thr175Ile	rs1801251	missense variant	-	NC_000002.12:g.232768750G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Val177Leu	rs753938104	missense variant	-	NC_000002.12:g.232768745C>G	gnomAD
KCNJ13	O60928	p.Val177Ile	rs753938104	missense variant	-	NC_000002.12:g.232768745C>T	gnomAD
KCNJ13	O60928	p.Val178Ala	rs1225843613	missense variant	-	NC_000002.12:g.232768741A>G	gnomAD
KCNJ13	O60928	p.Ala179Val	rs1322060507	missense variant	-	NC_000002.12:g.232768738G>A	gnomAD
KCNJ13	O60928	p.Met181Val	rs1280781998	missense variant	-	NC_000002.12:g.232768733T>C	gnomAD
KCNJ13	O60928	p.Met181Thr	rs761238464	missense variant	-	NC_000002.12:g.232768732A>G	ExAC,gnomAD
KCNJ13	O60928	p.Asp182His	rs773211176	missense variant	-	NC_000002.12:g.232768730C>G	ExAC,gnomAD
KCNJ13	O60928	p.Gly183Asp	RCV000311837	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232768726C>T	ClinVar
KCNJ13	O60928	p.Gly183Asp	rs886055797	missense variant	-	NC_000002.12:g.232768726C>T	-
KCNJ13	O60928	p.Pro185Leu	rs1299470079	missense variant	-	NC_000002.12:g.232768720G>A	gnomAD
KCNJ13	O60928	p.Asn186Thr	rs767510334	missense variant	-	NC_000002.12:g.232768717T>G	ExAC,gnomAD
KCNJ13	O60928	p.Leu187Val	rs762050035	missense variant	-	NC_000002.12:g.232768715G>C	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu187Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768715G>T	NCI-TCGA
KCNJ13	O60928	p.Ile188Thr	rs774472122	missense variant	-	NC_000002.12:g.232768711A>G	ExAC,gnomAD
KCNJ13	O60928	p.Ile188Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768710G>C	NCI-TCGA
KCNJ13	O60928	p.Gln190His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768704T>A	NCI-TCGA
KCNJ13	O60928	p.Pro196Ala	rs199606834	missense variant	-	NC_000002.12:g.232768688G>C	1000Genomes,ExAC,gnomAD
KCNJ13	O60928	p.Ser197Thr	rs1485682815	missense variant	-	NC_000002.12:g.232768684C>G	TOPMed
KCNJ13	O60928	p.Pro198Thr	rs555313069	missense variant	-	NC_000002.12:g.232768682G>T	1000Genomes
KCNJ13	O60928	p.Ser201Gly	rs745631910	missense variant	-	NC_000002.12:g.232768673T>C	ExAC
KCNJ13	O60928	p.Val202Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768669A>T	NCI-TCGA
KCNJ13	O60928	p.Arg203Trp	rs143063579	missense variant	-	NC_000002.12:g.232768667G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg203Gln	rs867979727	missense variant	-	NC_000002.12:g.232768666C>T	TOPMed
KCNJ13	O60928	p.Val207Ala	rs368709250	missense variant	-	NC_000002.12:g.232768654A>G	ESP,TOPMed,gnomAD
KCNJ13	O60928	p.Leu208Phe	rs770984701	missense variant	-	NC_000002.12:g.232768652G>A	ExAC,gnomAD
KCNJ13	O60928	p.Tyr209Ter	rs1406003973	stop gained	-	NC_000002.12:g.232768647A>T	gnomAD
KCNJ13	O60928	p.Tyr209His	rs1410267329	missense variant	-	NC_000002.12:g.232768649A>G	gnomAD
KCNJ13	O60928	p.Gln210Ter	rs746945081	stop gained	-	NC_000002.12:g.232768646G>A	ExAC,gnomAD
KCNJ13	O60928	p.Gln210Arg	rs1420183664	missense variant	-	NC_000002.12:g.232768645T>C	gnomAD
KCNJ13	O60928	p.Glu211Gly	rs727503971	missense variant	-	NC_000002.12:g.232768642T>C	-
KCNJ13	O60928	p.Glu211Gly	RCV000153388	missense variant	-	NC_000002.12:g.232768642T>C	ClinVar
KCNJ13	O60928	p.Gly215Ala	rs940166965	missense variant	-	NC_000002.12:g.232768630C>G	TOPMed,gnomAD
KCNJ13	O60928	p.Lys216Asn	rs757867220	missense variant	-	NC_000002.12:g.232768626T>A	ExAC,gnomAD
KCNJ13	O60928	p.Tyr218His	rs139594245	missense variant	-	NC_000002.12:g.232768622A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Tyr218Cys	rs778399462	missense variant	-	NC_000002.12:g.232768621T>C	ExAC,gnomAD
KCNJ13	O60928	p.Gln219Ter	rs1475176373	stop gained	-	NC_000002.12:g.232768619G>A	gnomAD
KCNJ13	O60928	p.Gln219Pro	rs1345380687	missense variant	-	NC_000002.12:g.232768618T>G	TOPMed
KCNJ13	O60928	p.Thr220Ile	rs1316922533	missense variant	-	NC_000002.12:g.232768615G>A	gnomAD
KCNJ13	O60928	p.Gly228Asp	rs1375760095	missense variant	-	NC_000002.12:g.232768591C>T	gnomAD
KCNJ13	O60928	p.Ser230Asn	RCV000351530	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232768585C>T	ClinVar
KCNJ13	O60928	p.Ser230Asn	rs146797648	missense variant	-	NC_000002.12:g.232768585C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ser230Ile	rs146797648	missense variant	-	NC_000002.12:g.232768585C>A	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ser231Phe	rs750953704	missense variant	-	NC_000002.12:g.232768582G>A	ExAC,gnomAD
KCNJ13	O60928	p.Asp232Asn	rs1372503037	missense variant	-	NC_000002.12:g.232768580C>T	TOPMed
KCNJ13	O60928	p.Glu233Lys	rs761770948	missense variant	-	NC_000002.12:g.232768577C>T	ExAC,gnomAD
KCNJ13	O60928	p.Glu233Gln	rs761770948	missense variant	-	NC_000002.12:g.232768577C>G	ExAC,gnomAD
KCNJ13	O60928	p.Cys234AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.232768575_232768576insCC	NCI-TCGA
KCNJ13	O60928	p.Phe236Tyr	rs1346994563	missense variant	-	NC_000002.12:g.232768567A>T	gnomAD
KCNJ13	O60928	p.Phe236Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768567A>G	NCI-TCGA
KCNJ13	O60928	p.Phe236Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768568A>T	NCI-TCGA
KCNJ13	O60928	p.Phe237Leu	rs982027064	missense variant	-	NC_000002.12:g.232768563G>T	TOPMed
KCNJ13	O60928	p.Ile238Phe	rs764204353	missense variant	-	NC_000002.12:g.232768562T>A	ExAC,gnomAD
KCNJ13	O60928	p.Leu241Gln	rs143607153	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768552A>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu241Pro	rs143607153	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768552A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu241Pro	rs143607153	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768552A>G	UniProt,dbSNP
KCNJ13	O60928	p.Leu241Pro	VAR_066490	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768552A>G	UniProt
KCNJ13	O60928	p.Leu241Pro	RCV000023267	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768552A>G	ClinVar
KCNJ13	O60928	p.Thr242Met	rs776500156	missense variant	-	NC_000002.12:g.232768549G>A	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Tyr244His	rs770861822	missense variant	-	NC_000002.12:g.232768544A>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Tyr244Phe	rs1187574332	missense variant	-	NC_000002.12:g.232768543T>A	gnomAD
KCNJ13	O60928	p.Ile247Leu	rs1316172407	missense variant	-	NC_000002.12:g.232768535T>G	TOPMed
KCNJ13	O60928	p.Pro249Ser	rs201555149	missense variant	-	NC_000002.12:g.232768529G>A	TOPMed,gnomAD
KCNJ13	O60928	p.Leu256Pro	rs1213086984	missense variant	-	NC_000002.12:g.232768507A>G	gnomAD
KCNJ13	O60928	p.Leu257Phe	rs760640227	missense variant	-	NC_000002.12:g.232768505G>A	ExAC,gnomAD
KCNJ13	O60928	p.Gln258His	rs1051985295	missense variant	-	NC_000002.12:g.232768500C>G	TOPMed,gnomAD
KCNJ13	O60928	p.Glu260Lys	rs371946844	missense variant	-	NC_000002.12:g.232768496C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Asn261His	rs772086040	missense variant	-	NC_000002.12:g.232768493T>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Pro262Leu	rs773815103	missense variant	-	NC_000002.12:g.232768489G>A	TOPMed
KCNJ13	O60928	p.Phe265Ser	rs1407691972	missense variant	-	NC_000002.12:g.232768480A>G	TOPMed
KCNJ13	O60928	p.Val268Ala	rs368221882	missense variant	-	NC_000002.12:g.232768471A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Val268Ile	rs929557852	missense variant	-	NC_000002.12:g.232768472C>T	TOPMed
KCNJ13	O60928	p.Phe270Ser	rs748955297	missense variant	-	NC_000002.12:g.232768465A>G	ExAC,gnomAD
KCNJ13	O60928	p.Phe270Leu	rs768232798	missense variant	-	NC_000002.12:g.232768466A>G	ExAC,gnomAD
KCNJ13	O60928	p.Met274Ile	rs1165633120	missense variant	-	NC_000002.12:g.232768452C>T	gnomAD
KCNJ13	O60928	p.Met274Thr	rs375157738	missense variant	-	NC_000002.12:g.232768453A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Glu276Ala	rs374411396	missense variant	-	NC_000002.12:g.232768447T>G	1000Genomes,ExAC,gnomAD
KCNJ13	O60928	p.Thr278Ile	rs1368634828	missense variant	-	NC_000002.12:g.232768441G>A	TOPMed
KCNJ13	O60928	p.Glu280Lys	rs370613677	missense variant	-	NC_000002.12:g.232768436C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Cys282Tyr	rs555860663	missense variant	-	NC_000002.12:g.232768429C>T	1000Genomes,ExAC,gnomAD
KCNJ13	O60928	p.Cys282Arg	COSM3972086	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232768430A>G	NCI-TCGA Cosmic
KCNJ13	O60928	p.Pro290Gln	rs17853727	missense variant	-	NC_000002.12:g.232768405G>T	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Pro290Gln	rs17853727	missense variant	-	NC_000002.12:g.232768405G>T	UniProt,dbSNP
KCNJ13	O60928	p.Pro290Gln	VAR_043510	missense variant	-	NC_000002.12:g.232768405G>T	UniProt
KCNJ13	O60928	p.Pro290Leu	rs17853727	missense variant	-	NC_000002.12:g.232768405G>A	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Pro290Ala	rs1334094242	missense variant	-	NC_000002.12:g.232768406G>C	gnomAD
KCNJ13	O60928	p.Met294Thr	rs1335732996	missense variant	-	NC_000002.12:g.232768393A>G	TOPMed
KCNJ13	O60928	p.His296Gln	rs1356847109	missense variant	-	NC_000002.12:g.232768386A>T	gnomAD
KCNJ13	O60928	p.His296Tyr	rs763207758	missense variant	-	NC_000002.12:g.232768388G>A	ExAC,gnomAD
KCNJ13	O60928	p.Cys298Arg	rs752987924	missense variant	-	NC_000002.12:g.232768382A>G	ExAC,gnomAD
KCNJ13	O60928	p.Ala300Val	rs760515492	missense variant	-	NC_000002.12:g.232768375G>A	ExAC,gnomAD
KCNJ13	O60928	p.Ala300Pro	rs377146231	missense variant	-	NC_000002.12:g.232768376C>G	ESP,TOPMed
KCNJ13	O60928	p.Ser301Tyr	rs926688430	missense variant	-	NC_000002.12:g.232768372G>T	TOPMed,gnomAD
KCNJ13	O60928	p.Ser301Thr	rs773108284	missense variant	-	NC_000002.12:g.232768373A>T	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu302Pro	rs954056272	missense variant	-	NC_000002.12:g.232768369A>G	TOPMed,gnomAD
KCNJ13	O60928	p.Thr304Ile	rs1183967062	missense variant	-	NC_000002.12:g.232768363G>A	TOPMed
KCNJ13	O60928	p.Arg305Gln	rs370182405	missense variant	-	NC_000002.12:g.232768360C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Gly306Val	rs1168851604	missense variant	-	NC_000002.12:g.232768357C>A	gnomAD
KCNJ13	O60928	p.Gly309Cys	rs17857137	missense variant	-	NC_000002.12:g.232768349C>A	UniProt,dbSNP
KCNJ13	O60928	p.Gly309Cys	VAR_043511	missense variant	-	NC_000002.12:g.232768349C>A	UniProt
KCNJ13	O60928	p.Gly309Cys	rs17857137	missense variant	-	NC_000002.12:g.232768349C>A	-
KCNJ13	O60928	p.Glu310Asp	rs377736321	missense variant	-	NC_000002.12:g.232768344T>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Glu310Ter	rs1371717577	stop gained	-	NC_000002.12:g.232768346C>A	gnomAD
KCNJ13	O60928	p.Gln312His	rs1481066504	missense variant	-	NC_000002.12:g.232768338T>A	TOPMed,gnomAD
KCNJ13	O60928	p.Gln312Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768340G>C	NCI-TCGA
KCNJ13	O60928	p.Glu316Asp	rs956131677	missense variant	-	NC_000002.12:g.232768326C>G	TOPMed
KCNJ13	O60928	p.Glu316Lys	rs1429317019	missense variant	-	NC_000002.12:g.232768328C>T	gnomAD
KCNJ13	O60928	p.Phe318Ser	rs1201013667	missense variant	-	NC_000002.12:g.232768321A>G	gnomAD
KCNJ13	O60928	p.Thr321Ala	rs748902194	missense variant	-	NC_000002.12:g.232768313T>C	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Pro323Ala	rs1196144448	missense variant	-	NC_000002.12:g.232768307G>C	gnomAD
KCNJ13	O60928	p.Pro326Ser	rs746208996	missense variant	-	NC_000002.12:g.232768298G>A	ExAC,gnomAD
KCNJ13	O60928	p.Thr327Ile	rs139746604	missense variant	-	NC_000002.12:g.232768294G>A	ESP
KCNJ13	O60928	p.Pro328His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768291G>T	NCI-TCGA
KCNJ13	O60928	p.Leu329Val	rs1217887322	missense variant	-	NC_000002.12:g.232768289G>C	gnomAD
KCNJ13	O60928	p.Leu329Pro	COSM4933062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232768288A>G	NCI-TCGA Cosmic
KCNJ13	O60928	p.Lys332Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768280T>C	NCI-TCGA
KCNJ13	O60928	p.Ser333Asn	rs781665941	missense variant	-	NC_000002.12:g.232768276C>T	ExAC,gnomAD
KCNJ13	O60928	p.Pro334Ser	rs757634383	missense variant	-	NC_000002.12:g.232768274G>A	ExAC,gnomAD
KCNJ13	O60928	p.Arg336Lys	rs777663064	missense variant	-	NC_000002.12:g.232768267C>T	ExAC,gnomAD
KCNJ13	O60928	p.Arg336Ser	rs1329723921	missense variant	-	NC_000002.12:g.232768266C>A	gnomAD
KCNJ13	O60928	p.Asp340Val	rs1232879667	missense variant	-	NC_000002.12:g.232768255T>A	TOPMed
KCNJ13	O60928	p.Ile341Val	rs765534142	missense variant	-	NC_000002.12:g.232768253T>C	ExAC,gnomAD
KCNJ13	O60928	p.His342Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768250G>A	NCI-TCGA
KCNJ13	O60928	p.Ile348Thr	rs545594184	missense variant	-	NC_000002.12:g.232768231A>G	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Asp349Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.232768229C>A	NCI-TCGA
KCNJ13	O60928	p.Gln352His	rs774380473	missense variant	-	NC_000002.12:g.232768218C>G	ExAC,gnomAD
KCNJ13	O60928	p.Glu355Asp	rs762432264	missense variant	-	NC_000002.12:g.232768209T>G	ExAC,gnomAD
KCNJ13	O60928	p.Glu355Gly	rs764061215	missense variant	-	NC_000002.12:g.232768210T>C	ExAC,gnomAD
KCNJ13	O60928	p.Thr359Arg	rs535054686	missense variant	-	NC_000002.12:g.232768198G>C	1000Genomes,ExAC,gnomAD
KCNJ13	O60928	p.Ter361Gln	rs1201705876	stop lost	-	NC_000002.12:g.232768193A>G	gnomAD
KCNJ13	O60928	p.Ser3Gly	rs1386527753	missense variant	-	NC_000002.12:g.232771356T>C	TOPMed
KCNJ13	O60928	p.Ser3Asn	rs779944275	missense variant	-	NC_000002.12:g.232771355C>T	ExAC,TOPMed
KCNJ13	O60928	p.Ser4Gly	rs1297475332	missense variant	-	NC_000002.12:g.232771353T>C	TOPMed
KCNJ13	O60928	p.Asn5Lys	rs1019872986	missense variant	-	NC_000002.12:g.232771348A>C	TOPMed
KCNJ13	O60928	p.Cys6Ser	rs140557196	missense variant	-	NC_000002.12:g.232771346C>G	ESP,ExAC,gnomAD
KCNJ13	O60928	p.Lys7Arg	rs781442689	missense variant	-	NC_000002.12:g.232771343T>C	ExAC,gnomAD
KCNJ13	O60928	p.Val8Leu	rs757516316	missense variant	-	NC_000002.12:g.232771341C>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ile9Thr	rs752474252	missense variant	-	NC_000002.12:g.232771337A>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ile9Met	rs143726189	missense variant	-	NC_000002.12:g.232771336A>C	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu12Val	rs951223853	missense variant	-	NC_000002.12:g.232771329G>C	TOPMed
KCNJ13	O60928	p.Leu13Val	rs1262517271	missense variant	-	NC_000002.12:g.232771326G>C	TOPMed
KCNJ13	O60928	p.Leu13Pro	rs1344890602	missense variant	-	NC_000002.12:g.232771325A>G	gnomAD
KCNJ13	O60928	p.Arg16Lys	rs1308748448	missense variant	-	NC_000002.12:g.232771316C>T	gnomAD
KCNJ13	O60928	p.Tyr17His	rs1393312729	missense variant	-	NC_000002.12:g.232771314A>G	gnomAD
KCNJ13	O60928	p.Arg18Gln	rs144268831	missense variant	-	NC_000002.12:g.232771310C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg18Trp	rs753827612	missense variant	-	NC_000002.12:g.232771311G>A	ExAC,gnomAD
KCNJ13	O60928	p.Thr22Ile	rs1216035247	missense variant	-	NC_000002.12:g.232771298G>A	TOPMed
KCNJ13	O60928	p.Lys23Asn	rs1261649348	missense variant	-	NC_000002.12:g.232771294C>G	TOPMed
KCNJ13	O60928	p.Asp24Tyr	rs760202322	missense variant	-	NC_000002.12:g.232771293C>A	ExAC,gnomAD
KCNJ13	O60928	p.Gly25Asp	rs1174827664	missense variant	-	NC_000002.12:g.232771289C>T	gnomAD
KCNJ13	O60928	p.Leu29Phe	rs376151051	missense variant	-	NC_000002.12:g.232771278G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Met31Ile	rs539369632	missense variant	-	NC_000002.12:g.232771270C>T	ExAC,gnomAD
KCNJ13	O60928	p.Ala34Ser	rs769160785	missense variant	-	NC_000002.12:g.232771263C>A	ExAC,gnomAD
KCNJ13	O60928	p.Arg36Gly	rs1345387152	missense variant	-	NC_000002.12:g.232771257T>C	gnomAD
KCNJ13	O60928	p.Leu38Val	rs776091698	missense variant	-	NC_000002.12:g.232771251G>C	ExAC,gnomAD
KCNJ13	O60928	p.Ala39Gly	rs1221570072	missense variant	-	NC_000002.12:g.232771247G>C	TOPMed,gnomAD
KCNJ13	O60928	p.Arg42Ter	rs200415013	stop gained	-	NC_000002.12:g.232771239G>A	gnomAD
KCNJ13	O60928	p.Gly46Glu	rs894185751	missense variant	-	NC_000002.12:g.232771226C>T	TOPMed
KCNJ13	O60928	p.Ile47Thr	rs745935897	missense variant	-	NC_000002.12:g.232771223A>G	ExAC,gnomAD
KCNJ13	O60928	p.Met49Thr	rs771136440	missense variant	-	NC_000002.12:g.232771217A>G	ExAC,gnomAD
KCNJ13	O60928	p.Asp50Val	rs1396840547	missense variant	-	NC_000002.12:g.232771214T>A	TOPMed,gnomAD
KCNJ13	O60928	p.Met51Thr	rs1335177310	missense variant	-	NC_000002.12:g.232771211A>G	gnomAD
KCNJ13	O60928	p.Met51Val	rs747234040	missense variant	-	NC_000002.12:g.232771212T>C	ExAC,gnomAD
KCNJ13	O60928	p.Arg52His	rs1293854136	missense variant	-	NC_000002.12:g.232771208C>T	TOPMed
KCNJ13	O60928	p.Trp53Ter	RCV000210439	nonsense	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232771205C>T	ClinVar
KCNJ13	O60928	p.Trp53Ter	rs869320631	stop gained	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232771205C>T	-
KCNJ13	O60928	p.Met57Ile	rs754789407	missense variant	-	NC_000002.12:g.232771192C>T	ExAC,gnomAD
KCNJ13	O60928	p.Met57Thr	rs1413398896	missense variant	-	NC_000002.12:g.232771193A>G	TOPMed,gnomAD
KCNJ13	O60928	p.Val65Phe	rs753616368	missense variant	-	NC_000002.12:g.232771170C>A	ExAC,gnomAD
KCNJ13	O60928	p.Trp68Ter	rs1003135933	stop gained	-	NC_000002.12:g.232771159C>T	TOPMed,gnomAD
KCNJ13	O60928	p.Val70Phe	rs749946210	missense variant	-	NC_000002.12:g.232771155C>A	ExAC,gnomAD
KCNJ13	O60928	p.Ala72Ser	rs77818131	missense variant	-	NC_000002.12:g.232771149C>A	ExAC,gnomAD
KCNJ13	O60928	p.Val73Ala	rs761501599	missense variant	-	NC_000002.12:g.232771145A>G	ExAC
KCNJ13	O60928	p.Val73Met	rs1225523589	missense variant	-	NC_000002.12:g.232771146C>T	TOPMed,gnomAD
KCNJ13	O60928	p.Trp75Ter	rs1348552377	stop gained	-	NC_000002.12:g.232771138C>T	gnomAD
KCNJ13	O60928	p.Ala79Gly	rs1362171485	missense variant	-	NC_000002.12:g.232771127G>C	TOPMed
KCNJ13	O60928	p.Ala79Thr	rs1279038422	missense variant	-	NC_000002.12:g.232771128C>T	gnomAD
KCNJ13	O60928	p.Glu80Lys	rs374810770	missense variant	-	NC_000002.12:g.232771125C>T	ESP
KCNJ13	O60928	p.Met81Thr	rs371256707	missense variant	-	NC_000002.12:g.232771121A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Asn82Ile	rs764509761	missense variant	-	NC_000002.12:g.232771118T>A	ExAC,gnomAD
KCNJ13	O60928	p.Gly83Asp	rs763341185	missense variant	-	NC_000002.12:g.232771115C>T	ExAC,gnomAD
KCNJ13	O60928	p.Gly83Ser	rs1313340677	missense variant	-	NC_000002.12:g.232771116C>T	gnomAD
KCNJ13	O60928	p.His89Tyr	rs1487693818	missense variant	-	NC_000002.12:g.232771098G>A	TOPMed
KCNJ13	O60928	p.Asp90Gly	rs183766886	missense variant	-	NC_000002.12:g.232771094T>C	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Asp90Val	rs183766886	missense variant	-	NC_000002.12:g.232771094T>A	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Asp90Glu	rs907341776	missense variant	-	NC_000002.12:g.232771093A>C	TOPMed
KCNJ13	O60928	p.Asp90Tyr	rs1179391592	missense variant	-	NC_000002.12:g.232771095C>A	TOPMed
KCNJ13	O60928	p.Ala91Val	rs1177395186	missense variant	-	NC_000002.12:g.232771091G>A	TOPMed
KCNJ13	O60928	p.Ala91Thr	rs991734668	missense variant	-	NC_000002.12:g.232771092C>T	-
KCNJ13	O60928	p.Pro93Leu	rs1377986601	missense variant	-	NC_000002.12:g.232771085G>A	TOPMed
KCNJ13	O60928	p.His96Gln	rs1042298486	missense variant	-	NC_000002.12:g.232771075G>T	TOPMed
KCNJ13	O60928	p.Ile98Val	rs760027526	missense variant	-	NC_000002.12:g.232771071T>C	ExAC,gnomAD
KCNJ13	O60928	p.Ile98Thr	rs1165371214	missense variant	-	NC_000002.12:g.232771070A>G	TOPMed
KCNJ13	O60928	p.Ile98Phe	rs760027526	missense variant	-	NC_000002.12:g.232771071T>A	ExAC,gnomAD
KCNJ13	O60928	p.Val100Asp	rs1382097055	missense variant	-	NC_000002.12:g.232771064A>T	TOPMed,gnomAD
KCNJ13	O60928	p.Val100Ala	rs1382097055	missense variant	-	NC_000002.12:g.232771064A>G	TOPMed,gnomAD
KCNJ13	O60928	p.Tyr102His	rs1456196159	missense variant	-	NC_000002.12:g.232771059A>G	TOPMed
KCNJ13	O60928	p.Tyr102Cys	rs776705101	missense variant	-	NC_000002.12:g.232771058T>C	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu114Pro	rs1401218860	missense variant	-	NC_000002.12:g.232771022A>G	TOPMed
KCNJ13	O60928	p.Gln117Arg	VAR_066488	Missense	Leber congenital amaurosis 16 (LCA16) [MIM:614186]	-	UniProt
KCNJ13	O60928	p.Ile120Thr	rs786205550	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232771004A>G	gnomAD
KCNJ13	O60928	p.Ile120Val	rs946261593	missense variant	-	NC_000002.12:g.232771005T>C	TOPMed,gnomAD
KCNJ13	O60928	p.Ile120Thr	RCV000210435	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232771004A>G	ClinVar
KCNJ13	O60928	p.Thr124Ile	rs1181517529	missense variant	-	NC_000002.12:g.232770992G>A	gnomAD
KCNJ13	O60928	p.Ser128Gly	rs1385052216	missense variant	-	NC_000002.12:g.232770981T>C	TOPMed
KCNJ13	O60928	p.Cys131Tyr	rs777940941	missense variant	-	NC_000002.12:g.232770971C>T	ExAC,gnomAD
KCNJ13	O60928	p.Ala136Thr	rs749097137	missense variant	-	NC_000002.12:g.232770957C>T	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ala136Val	rs779781039	missense variant	-	NC_000002.12:g.232770956G>A	ExAC,gnomAD
KCNJ13	O60928	p.Ile140Thr	rs1283588724	missense variant	-	NC_000002.12:g.232770944A>G	gnomAD
KCNJ13	O60928	p.Leu144Pro	rs1361858388	missense variant	-	NC_000002.12:g.232770932A>G	gnomAD
KCNJ13	O60928	p.Glu149Gly	rs1366295731	missense variant	-	NC_000002.12:g.232770917T>C	gnomAD
KCNJ13	O60928	p.Ala150Thr	rs1457904833	missense variant	-	NC_000002.12:g.232770915C>T	TOPMed
KCNJ13	O60928	p.Ala150Val	rs1197652096	missense variant	-	NC_000002.12:g.232770914G>A	TOPMed
KCNJ13	O60928	p.Thr153Ile	RCV000515663	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232770905G>A	ClinVar
KCNJ13	O60928	p.Ala158Glu	rs727503972	missense variant	-	NC_000002.12:g.232768801G>T	ExAC,gnomAD
KCNJ13	O60928	p.Ala158Val	rs727503972	missense variant	-	NC_000002.12:g.232768801G>A	ExAC,gnomAD
KCNJ13	O60928	p.Ala158Ser	rs1346773854	missense variant	-	NC_000002.12:g.232768802C>A	gnomAD
KCNJ13	O60928	p.Ile160Ser	rs564363265	missense variant	-	NC_000002.12:g.232768795A>C	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ile160Asn	rs564363265	missense variant	-	NC_000002.12:g.232768795A>T	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ile160Thr	rs564363265	missense variant	-	NC_000002.12:g.232768795A>G	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ala161Asp	rs781248449	missense variant	-	NC_000002.12:g.232768792G>T	ExAC,gnomAD
KCNJ13	O60928	p.Arg162Pro	rs757304681	missense variant	-	NC_000002.12:g.232768789C>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg162Gln	rs757304681	missense variant	-	NC_000002.12:g.232768789C>T	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg162Gln	rs757304681	missense variant	-	NC_000002.12:g.232768789C>T	UniProt,dbSNP
KCNJ13	O60928	p.Arg162Gln	VAR_066489	missense variant	-	NC_000002.12:g.232768789C>T	UniProt
KCNJ13	O60928	p.Arg162Trp	rs121918542	missense variant	Snowflake vitreoretinal degeneration (SVD)	NC_000002.12:g.232768790G>A	UniProt,dbSNP
KCNJ13	O60928	p.Arg162Trp	VAR_043509	missense variant	Snowflake vitreoretinal degeneration (SVD)	NC_000002.12:g.232768790G>A	UniProt
KCNJ13	O60928	p.Arg162Trp	rs121918542	missense variant	-	NC_000002.12:g.232768790G>A	gnomAD
KCNJ13	O60928	p.Arg162Trp	RCV000006963	missense variant	Snowflake vitreoretinal degeneration (SVD)	NC_000002.12:g.232768790G>A	ClinVar
KCNJ13	O60928	p.Arg166Ter	RCV000023266	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768778G>A	ClinVar
KCNJ13	O60928	p.Arg166Gly	rs387906858	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768778G>C	gnomAD
KCNJ13	O60928	p.Arg166Ter	rs387906858	stop gained	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768778G>A	gnomAD
KCNJ13	O60928	p.Ile170Val	rs1213413047	missense variant	-	NC_000002.12:g.232768766T>C	TOPMed
KCNJ13	O60928	p.Arg171His	rs752305262	missense variant	-	NC_000002.12:g.232768762C>T	ExAC,gnomAD
KCNJ13	O60928	p.Arg171Cys	rs147221151	missense variant	-	NC_000002.12:g.232768763G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg171Ser	rs147221151	missense variant	-	NC_000002.12:g.232768763G>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Thr175Ile	RCV000355444	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232768750G>A	ClinVar
KCNJ13	O60928	p.Thr175Ile	rs1801251	missense variant	-	NC_000002.12:g.232768750G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Val177Leu	rs753938104	missense variant	-	NC_000002.12:g.232768745C>G	gnomAD
KCNJ13	O60928	p.Val177Ile	rs753938104	missense variant	-	NC_000002.12:g.232768745C>T	gnomAD
KCNJ13	O60928	p.Val178Ala	rs1225843613	missense variant	-	NC_000002.12:g.232768741A>G	gnomAD
KCNJ13	O60928	p.Ala179Val	rs1322060507	missense variant	-	NC_000002.12:g.232768738G>A	gnomAD
KCNJ13	O60928	p.Met181Val	rs1280781998	missense variant	-	NC_000002.12:g.232768733T>C	gnomAD
KCNJ13	O60928	p.Met181Thr	rs761238464	missense variant	-	NC_000002.12:g.232768732A>G	ExAC,gnomAD
KCNJ13	O60928	p.Asp182His	rs773211176	missense variant	-	NC_000002.12:g.232768730C>G	ExAC,gnomAD
KCNJ13	O60928	p.Gly183Asp	RCV000311837	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232768726C>T	ClinVar
KCNJ13	O60928	p.Gly183Asp	rs886055797	missense variant	-	NC_000002.12:g.232768726C>T	-
KCNJ13	O60928	p.Pro185Leu	rs1299470079	missense variant	-	NC_000002.12:g.232768720G>A	gnomAD
KCNJ13	O60928	p.Asn186Thr	rs767510334	missense variant	-	NC_000002.12:g.232768717T>G	ExAC,gnomAD
KCNJ13	O60928	p.Leu187Val	rs762050035	missense variant	-	NC_000002.12:g.232768715G>C	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ile188Thr	rs774472122	missense variant	-	NC_000002.12:g.232768711A>G	ExAC,gnomAD
KCNJ13	O60928	p.Pro196Ala	rs199606834	missense variant	-	NC_000002.12:g.232768688G>C	1000Genomes,ExAC,gnomAD
KCNJ13	O60928	p.Ser197Thr	rs1485682815	missense variant	-	NC_000002.12:g.232768684C>G	TOPMed
KCNJ13	O60928	p.Pro198Thr	rs555313069	missense variant	-	NC_000002.12:g.232768682G>T	1000Genomes
KCNJ13	O60928	p.Ser201Gly	rs745631910	missense variant	-	NC_000002.12:g.232768673T>C	ExAC
KCNJ13	O60928	p.Arg203Trp	rs143063579	missense variant	-	NC_000002.12:g.232768667G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Arg203Gln	rs867979727	missense variant	-	NC_000002.12:g.232768666C>T	TOPMed
KCNJ13	O60928	p.Val207Ala	rs368709250	missense variant	-	NC_000002.12:g.232768654A>G	ESP,TOPMed,gnomAD
KCNJ13	O60928	p.Leu208Phe	rs770984701	missense variant	-	NC_000002.12:g.232768652G>A	ExAC,gnomAD
KCNJ13	O60928	p.Tyr209Ter	rs1406003973	stop gained	-	NC_000002.12:g.232768647A>T	gnomAD
KCNJ13	O60928	p.Tyr209His	rs1410267329	missense variant	-	NC_000002.12:g.232768649A>G	gnomAD
KCNJ13	O60928	p.Gln210Ter	rs746945081	stop gained	-	NC_000002.12:g.232768646G>A	ExAC,gnomAD
KCNJ13	O60928	p.Gln210Arg	rs1420183664	missense variant	-	NC_000002.12:g.232768645T>C	gnomAD
KCNJ13	O60928	p.Glu211Gly	rs727503971	missense variant	-	NC_000002.12:g.232768642T>C	-
KCNJ13	O60928	p.Glu211Gly	RCV000153388	missense variant	-	NC_000002.12:g.232768642T>C	ClinVar
KCNJ13	O60928	p.Gly215Ala	rs940166965	missense variant	-	NC_000002.12:g.232768630C>G	TOPMed,gnomAD
KCNJ13	O60928	p.Lys216Asn	rs757867220	missense variant	-	NC_000002.12:g.232768626T>A	ExAC,gnomAD
KCNJ13	O60928	p.Tyr218His	rs139594245	missense variant	-	NC_000002.12:g.232768622A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Tyr218Cys	rs778399462	missense variant	-	NC_000002.12:g.232768621T>C	ExAC,gnomAD
KCNJ13	O60928	p.Gln219Ter	rs1475176373	stop gained	-	NC_000002.12:g.232768619G>A	gnomAD
KCNJ13	O60928	p.Gln219Pro	rs1345380687	missense variant	-	NC_000002.12:g.232768618T>G	TOPMed
KCNJ13	O60928	p.Thr220Ile	rs1316922533	missense variant	-	NC_000002.12:g.232768615G>A	gnomAD
KCNJ13	O60928	p.Gly228Asp	rs1375760095	missense variant	-	NC_000002.12:g.232768591C>T	gnomAD
KCNJ13	O60928	p.Ser230Asn	RCV000351530	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232768585C>T	ClinVar
KCNJ13	O60928	p.Ser230Asn	rs146797648	missense variant	-	NC_000002.12:g.232768585C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ser230Ile	rs146797648	missense variant	-	NC_000002.12:g.232768585C>A	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Ser231Phe	rs750953704	missense variant	-	NC_000002.12:g.232768582G>A	ExAC,gnomAD
KCNJ13	O60928	p.Asp232Asn	rs1372503037	missense variant	-	NC_000002.12:g.232768580C>T	TOPMed
KCNJ13	O60928	p.Glu233Lys	rs761770948	missense variant	-	NC_000002.12:g.232768577C>T	ExAC,gnomAD
KCNJ13	O60928	p.Glu233Gln	rs761770948	missense variant	-	NC_000002.12:g.232768577C>G	ExAC,gnomAD
KCNJ13	O60928	p.Phe236Tyr	rs1346994563	missense variant	-	NC_000002.12:g.232768567A>T	gnomAD
KCNJ13	O60928	p.Phe237Leu	rs982027064	missense variant	-	NC_000002.12:g.232768563G>T	TOPMed
KCNJ13	O60928	p.Ile238Phe	rs764204353	missense variant	-	NC_000002.12:g.232768562T>A	ExAC,gnomAD
KCNJ13	O60928	p.Leu241Gln	rs143607153	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768552A>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu241Pro	rs143607153	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768552A>G	UniProt,dbSNP
KCNJ13	O60928	p.Leu241Pro	VAR_066490	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768552A>G	UniProt
KCNJ13	O60928	p.Leu241Pro	rs143607153	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768552A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu241Pro	RCV000023267	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768552A>G	ClinVar
KCNJ13	O60928	p.Thr242Met	rs776500156	missense variant	-	NC_000002.12:g.232768549G>A	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Tyr244His	rs770861822	missense variant	-	NC_000002.12:g.232768544A>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Tyr244Phe	rs1187574332	missense variant	-	NC_000002.12:g.232768543T>A	gnomAD
KCNJ13	O60928	p.Ile247Leu	rs1316172407	missense variant	-	NC_000002.12:g.232768535T>G	TOPMed
KCNJ13	O60928	p.Pro249Ser	rs201555149	missense variant	-	NC_000002.12:g.232768529G>A	TOPMed,gnomAD
KCNJ13	O60928	p.Leu256Pro	rs1213086984	missense variant	-	NC_000002.12:g.232768507A>G	gnomAD
KCNJ13	O60928	p.Leu257Phe	rs760640227	missense variant	-	NC_000002.12:g.232768505G>A	ExAC,gnomAD
KCNJ13	O60928	p.Gln258His	rs1051985295	missense variant	-	NC_000002.12:g.232768500C>G	TOPMed,gnomAD
KCNJ13	O60928	p.Glu260Lys	rs371946844	missense variant	-	NC_000002.12:g.232768496C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Asn261His	rs772086040	missense variant	-	NC_000002.12:g.232768493T>G	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Pro262Leu	rs773815103	missense variant	-	NC_000002.12:g.232768489G>A	TOPMed
KCNJ13	O60928	p.Phe265Ser	rs1407691972	missense variant	-	NC_000002.12:g.232768480A>G	TOPMed
KCNJ13	O60928	p.Val268Ala	rs368221882	missense variant	-	NC_000002.12:g.232768471A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Val268Ile	rs929557852	missense variant	-	NC_000002.12:g.232768472C>T	TOPMed
KCNJ13	O60928	p.Phe270Leu	rs768232798	missense variant	-	NC_000002.12:g.232768466A>G	ExAC,gnomAD
KCNJ13	O60928	p.Phe270Ser	rs748955297	missense variant	-	NC_000002.12:g.232768465A>G	ExAC,gnomAD
KCNJ13	O60928	p.Met274Ile	rs1165633120	missense variant	-	NC_000002.12:g.232768452C>T	gnomAD
KCNJ13	O60928	p.Met274Thr	rs375157738	missense variant	-	NC_000002.12:g.232768453A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Glu276Ala	rs374411396	missense variant	-	NC_000002.12:g.232768447T>G	1000Genomes,ExAC,gnomAD
KCNJ13	O60928	p.Thr278Ile	rs1368634828	missense variant	-	NC_000002.12:g.232768441G>A	TOPMed
KCNJ13	O60928	p.Glu280Lys	rs370613677	missense variant	-	NC_000002.12:g.232768436C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Cys282Tyr	rs555860663	missense variant	-	NC_000002.12:g.232768429C>T	1000Genomes,ExAC,gnomAD
KCNJ13	O60928	p.Pro290Gln	rs17853727	missense variant	-	NC_000002.12:g.232768405G>T	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Pro290Gln	rs17853727	missense variant	-	NC_000002.12:g.232768405G>T	UniProt,dbSNP
KCNJ13	O60928	p.Pro290Gln	VAR_043510	missense variant	-	NC_000002.12:g.232768405G>T	UniProt
KCNJ13	O60928	p.Pro290Leu	rs17853727	missense variant	-	NC_000002.12:g.232768405G>A	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Pro290Ala	rs1334094242	missense variant	-	NC_000002.12:g.232768406G>C	gnomAD
KCNJ13	O60928	p.Met294Thr	rs1335732996	missense variant	-	NC_000002.12:g.232768393A>G	TOPMed
KCNJ13	O60928	p.His296Gln	rs1356847109	missense variant	-	NC_000002.12:g.232768386A>T	gnomAD
KCNJ13	O60928	p.His296Tyr	rs763207758	missense variant	-	NC_000002.12:g.232768388G>A	ExAC,gnomAD
KCNJ13	O60928	p.Cys298Arg	rs752987924	missense variant	-	NC_000002.12:g.232768382A>G	ExAC,gnomAD
KCNJ13	O60928	p.Ala300Val	rs760515492	missense variant	-	NC_000002.12:g.232768375G>A	ExAC,gnomAD
KCNJ13	O60928	p.Ala300Pro	rs377146231	missense variant	-	NC_000002.12:g.232768376C>G	ESP,TOPMed
KCNJ13	O60928	p.Ser301Tyr	rs926688430	missense variant	-	NC_000002.12:g.232768372G>T	TOPMed,gnomAD
KCNJ13	O60928	p.Ser301Thr	rs773108284	missense variant	-	NC_000002.12:g.232768373A>T	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Leu302Pro	rs954056272	missense variant	-	NC_000002.12:g.232768369A>G	TOPMed,gnomAD
KCNJ13	O60928	p.Thr304Ile	rs1183967062	missense variant	-	NC_000002.12:g.232768363G>A	TOPMed
KCNJ13	O60928	p.Arg305Gln	rs370182405	missense variant	-	NC_000002.12:g.232768360C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Gly306Val	rs1168851604	missense variant	-	NC_000002.12:g.232768357C>A	gnomAD
KCNJ13	O60928	p.Gly309Cys	rs17857137	missense variant	-	NC_000002.12:g.232768349C>A	UniProt,dbSNP
KCNJ13	O60928	p.Gly309Cys	VAR_043511	missense variant	-	NC_000002.12:g.232768349C>A	UniProt
KCNJ13	O60928	p.Gly309Cys	rs17857137	missense variant	-	NC_000002.12:g.232768349C>A	-
KCNJ13	O60928	p.Glu310Asp	rs377736321	missense variant	-	NC_000002.12:g.232768344T>G	ESP,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Glu310Ter	rs1371717577	stop gained	-	NC_000002.12:g.232768346C>A	gnomAD
KCNJ13	O60928	p.Gln312His	rs1481066504	missense variant	-	NC_000002.12:g.232768338T>A	TOPMed,gnomAD
KCNJ13	O60928	p.Glu316Asp	rs956131677	missense variant	-	NC_000002.12:g.232768326C>G	TOPMed
KCNJ13	O60928	p.Glu316Lys	rs1429317019	missense variant	-	NC_000002.12:g.232768328C>T	gnomAD
KCNJ13	O60928	p.Phe318Ser	rs1201013667	missense variant	-	NC_000002.12:g.232768321A>G	gnomAD
KCNJ13	O60928	p.Thr321Ala	rs748902194	missense variant	-	NC_000002.12:g.232768313T>C	ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Pro323Ala	rs1196144448	missense variant	-	NC_000002.12:g.232768307G>C	gnomAD
KCNJ13	O60928	p.Pro326Ser	rs746208996	missense variant	-	NC_000002.12:g.232768298G>A	ExAC,gnomAD
KCNJ13	O60928	p.Thr327Ile	rs139746604	missense variant	-	NC_000002.12:g.232768294G>A	ESP
KCNJ13	O60928	p.Leu329Val	rs1217887322	missense variant	-	NC_000002.12:g.232768289G>C	gnomAD
KCNJ13	O60928	p.Ser333Asn	rs781665941	missense variant	-	NC_000002.12:g.232768276C>T	ExAC,gnomAD
KCNJ13	O60928	p.Pro334Ser	rs757634383	missense variant	-	NC_000002.12:g.232768274G>A	ExAC,gnomAD
KCNJ13	O60928	p.Arg336Lys	rs777663064	missense variant	-	NC_000002.12:g.232768267C>T	ExAC,gnomAD
KCNJ13	O60928	p.Arg336Ser	rs1329723921	missense variant	-	NC_000002.12:g.232768266C>A	gnomAD
KCNJ13	O60928	p.Asp340Val	rs1232879667	missense variant	-	NC_000002.12:g.232768255T>A	TOPMed
KCNJ13	O60928	p.Ile341Val	rs765534142	missense variant	-	NC_000002.12:g.232768253T>C	ExAC,gnomAD
KCNJ13	O60928	p.Ile348Thr	rs545594184	missense variant	-	NC_000002.12:g.232768231A>G	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ13	O60928	p.Gln352His	rs774380473	missense variant	-	NC_000002.12:g.232768218C>G	ExAC,gnomAD
KCNJ13	O60928	p.Glu355Asp	rs762432264	missense variant	-	NC_000002.12:g.232768209T>G	ExAC,gnomAD
KCNJ13	O60928	p.Glu355Gly	rs764061215	missense variant	-	NC_000002.12:g.232768210T>C	ExAC,gnomAD
KCNJ13	O60928	p.Thr359Arg	rs535054686	missense variant	-	NC_000002.12:g.232768198G>C	1000Genomes,ExAC,gnomAD
KCNJ13	O60928	p.Ter361Gln	rs1201705876	stop lost	-	NC_000002.12:g.232768193A>G	gnomAD
FZD7	O75084	p.Arg2Gln	rs61754568	missense variant	-	NC_000002.12:g.202034652G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Pro4Ser	rs1339441816	missense variant	-	NC_000002.12:g.202034657C>T	TOPMed
FZD7	O75084	p.Pro4Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034658C>T	NCI-TCGA
FZD7	O75084	p.Pro4Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034657C>A	NCI-TCGA
FZD7	O75084	p.Ala6Val	rs1225758862	missense variant	-	NC_000002.12:g.202034664C>T	TOPMed
FZD7	O75084	p.Pro9Thr	rs760851152	missense variant	-	NC_000002.12:g.202034672C>A	ExAC,gnomAD
FZD7	O75084	p.Leu10Arg	rs1361659381	missense variant	-	NC_000002.12:g.202034676T>G	gnomAD
FZD7	O75084	p.Ser11Pro	rs766841500	missense variant	-	NC_000002.12:g.202034678T>C	ExAC,gnomAD
FZD7	O75084	p.Ser12Phe	rs1346323424	missense variant	-	NC_000002.12:g.202034682C>T	gnomAD
FZD7	O75084	p.Ser12Pro	rs960364984	missense variant	-	NC_000002.12:g.202034681T>C	TOPMed
FZD7	O75084	p.Leu15Phe	rs992928365	missense variant	-	NC_000002.12:g.202034690C>T	TOPMed,gnomAD
FZD7	O75084	p.Cys16Arg	rs201450666	missense variant	-	NC_000002.12:g.202034693T>C	1000Genomes,ExAC,gnomAD
FZD7	O75084	p.Ala17Ser	rs982634074	missense variant	-	NC_000002.12:g.202034696G>T	TOPMed,gnomAD
FZD7	O75084	p.Ala17Val	rs765568446	missense variant	-	NC_000002.12:g.202034697C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ala17Thr	rs982634074	missense variant	-	NC_000002.12:g.202034696G>A	TOPMed,gnomAD
FZD7	O75084	p.Val19Ala	rs751179155	missense variant	-	NC_000002.12:g.202034703T>C	ExAC,gnomAD
FZD7	O75084	p.Ala21Val	rs1368729594	missense variant	-	NC_000002.12:g.202034709C>T	gnomAD
FZD7	O75084	p.Ala21Pro	rs978758739	missense variant	-	NC_000002.12:g.202034708G>C	TOPMed,gnomAD
FZD7	O75084	p.Gly24Ser	rs755615030	missense variant	-	NC_000002.12:g.202034717G>A	UniProt,dbSNP
FZD7	O75084	p.Gly24Ser	VAR_033024	missense variant	-	NC_000002.12:g.202034717G>A	UniProt
FZD7	O75084	p.Gly24Ser	rs755615030	missense variant	-	NC_000002.12:g.202034717G>A	ExAC,gnomAD
FZD7	O75084	p.Gly24Ala	rs35111363	missense variant	-	NC_000002.12:g.202034718G>C	TOPMed,gnomAD
FZD7	O75084	p.Gly24Asp	rs35111363	missense variant	-	NC_000002.12:g.202034718G>A	TOPMed,gnomAD
FZD7	O75084	p.Ala25Ser	rs1202328038	missense variant	-	NC_000002.12:g.202034720G>T	TOPMed
FZD7	O75084	p.Ala25Gly	rs749235803	missense variant	-	NC_000002.12:g.202034721C>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ala25Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034720G>A	NCI-TCGA
FZD7	O75084	p.Ala28Val	rs778919859	missense variant	-	NC_000002.12:g.202034730C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Gly29Ser	rs1339508761	missense variant	-	NC_000002.12:g.202034732G>A	gnomAD
FZD7	O75084	p.Ala30Thr	rs748369771	missense variant	-	NC_000002.12:g.202034735G>A	ExAC,gnomAD
FZD7	O75084	p.Ala32Val	rs1487949232	missense variant	-	NC_000002.12:g.202034742C>T	gnomAD
FZD7	O75084	p.Gln33His	rs1189250451	missense variant	-	NC_000002.12:g.202034746G>C	gnomAD
FZD7	O75084	p.Pro34Leu	rs772362388	missense variant	-	NC_000002.12:g.202034748C>T	ExAC,gnomAD
FZD7	O75084	p.His36Asp	rs1187805781	missense variant	-	NC_000002.12:g.202034753C>G	gnomAD
FZD7	O75084	p.His36Arg	rs1388213273	missense variant	-	NC_000002.12:g.202034754A>G	gnomAD
FZD7	O75084	p.Gly37Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034756G>A	NCI-TCGA
FZD7	O75084	p.Glu38Asp	rs140084102	missense variant	-	NC_000002.12:g.202034761G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Glu38Val	rs1273976498	missense variant	-	NC_000002.12:g.202034760A>T	TOPMed
FZD7	O75084	p.Glu38Lys	rs747045136	missense variant	-	NC_000002.12:g.202034759G>A	ExAC,gnomAD
FZD7	O75084	p.Glu38Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034761G>T	NCI-TCGA
FZD7	O75084	p.Lys39Asn	COSM4090281	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034764G>T	NCI-TCGA Cosmic
FZD7	O75084	p.Ile41Val	rs1337389467	missense variant	-	NC_000002.12:g.202034768A>G	TOPMed
FZD7	O75084	p.Ile41Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034769T>A	NCI-TCGA
FZD7	O75084	p.Ser42Thr	rs200796298	missense variant	-	NC_000002.12:g.202034771T>A	ExAC,gnomAD
FZD7	O75084	p.Pro44Leu	rs1434787939	missense variant	-	NC_000002.12:g.202034778C>T	gnomAD
FZD7	O75084	p.Pro44Ser	rs775886653	missense variant	-	NC_000002.12:g.202034777C>T	ExAC,TOPMed
FZD7	O75084	p.Asp45Gly	rs1367964884	missense variant	-	NC_000002.12:g.202034781A>G	TOPMed,gnomAD
FZD7	O75084	p.Asp45Asn	rs763317919	missense variant	-	NC_000002.12:g.202034780G>A	ExAC,gnomAD
FZD7	O75084	p.Gly47Asp	rs1320755268	missense variant	-	NC_000002.12:g.202034787G>A	gnomAD
FZD7	O75084	p.Gly47Ala	rs1320755268	missense variant	-	NC_000002.12:g.202034787G>C	gnomAD
FZD7	O75084	p.Gly47Cys	COSM719740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034786G>T	NCI-TCGA Cosmic
FZD7	O75084	p.Phe48Val	rs755630577	missense variant	-	NC_000002.12:g.202034789T>G	ExAC,gnomAD
FZD7	O75084	p.Pro51Arg	rs754930210	missense variant	-	NC_000002.12:g.202034799C>G	ExAC,gnomAD
FZD7	O75084	p.Pro51Leu	rs754930210	missense variant	-	NC_000002.12:g.202034799C>T	ExAC,gnomAD
FZD7	O75084	p.Pro51Ala	rs753811424	missense variant	-	NC_000002.12:g.202034798C>G	ExAC,gnomAD
FZD7	O75084	p.Ile52Val	rs779007814	missense variant	-	NC_000002.12:g.202034801A>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ile54Met	rs758298218	missense variant	-	NC_000002.12:g.202034809C>G	ExAC,gnomAD
FZD7	O75084	p.Pro55Ser	rs778092158	missense variant	-	NC_000002.12:g.202034810C>T	ExAC,gnomAD
FZD7	O75084	p.Pro55Gln	rs747242944	missense variant	-	NC_000002.12:g.202034811C>A	ExAC,gnomAD
FZD7	O75084	p.Asp59His	rs776638713	missense variant	-	NC_000002.12:g.202034822G>C	ExAC,gnomAD
FZD7	O75084	p.Ala61Val	rs746371122	missense variant	-	NC_000002.12:g.202034829C>T	ExAC,gnomAD
FZD7	O75084	p.Asn63His	rs763259152	missense variant	-	NC_000002.12:g.202034834A>C	ExAC,gnomAD
FZD7	O75084	p.Asn63Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034835A>C	NCI-TCGA
FZD7	O75084	p.Thr65Asn	rs1471966906	missense variant	-	NC_000002.12:g.202034841C>A	TOPMed
FZD7	O75084	p.Ile66Met	rs1212605455	missense variant	-	NC_000002.12:g.202034845C>G	TOPMed
FZD7	O75084	p.Gly72Cys	rs765901552	missense variant	-	NC_000002.12:g.202034861G>T	ExAC,gnomAD
FZD7	O75084	p.Gly72Asp	rs753231460	missense variant	-	NC_000002.12:g.202034862G>A	ExAC,gnomAD
FZD7	O75084	p.His73Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034864C>G	NCI-TCGA
FZD7	O75084	p.Thr74Arg	rs547303593	missense variant	-	NC_000002.12:g.202034868C>G	1000Genomes,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr74Met	rs547303593	missense variant	-	NC_000002.12:g.202034868C>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Asn75Ile	rs1482347697	missense variant	-	NC_000002.12:g.202034871A>T	gnomAD
FZD7	O75084	p.Asp78Asn	rs758245010	missense variant	-	NC_000002.12:g.202034879G>A	ExAC,gnomAD
FZD7	O75084	p.Asp78Glu	rs777749596	missense variant	-	NC_000002.12:g.202034881C>A	ExAC,gnomAD
FZD7	O75084	p.Gly80Cys	rs1157412361	missense variant	-	NC_000002.12:g.202034885G>T	gnomAD
FZD7	O75084	p.Gly80Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034885G>A	NCI-TCGA
FZD7	O75084	p.Leu81His	rs1401825150	missense variant	-	NC_000002.12:g.202034889T>A	gnomAD
FZD7	O75084	p.Glu82Ter	rs1226692312	stop gained	-	NC_000002.12:g.202034891G>T	TOPMed
FZD7	O75084	p.Tyr87Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034907A>T	NCI-TCGA
FZD7	O75084	p.Val90Leu	COSM442123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034915G>C	NCI-TCGA Cosmic
FZD7	O75084	p.Lys91Glu	rs368323286	missense variant	-	NC_000002.12:g.202034918A>G	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Val92Leu	rs1293935728	missense variant	-	NC_000002.12:g.202034921G>T	TOPMed
FZD7	O75084	p.Pro96Ala	rs769887663	missense variant	-	NC_000002.12:g.202034933C>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Pro96Ser	rs769887663	missense variant	-	NC_000002.12:g.202034933C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Pro96Leu	rs780521635	missense variant	-	NC_000002.12:g.202034934C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Glu97Gly	rs1401639507	missense variant	-	NC_000002.12:g.202034937A>G	TOPMed
FZD7	O75084	p.Phe100Val	COSM1014987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034945T>G	NCI-TCGA Cosmic
FZD7	O75084	p.Met105Ile	rs1360444754	missense variant	-	NC_000002.12:g.202034962G>A	TOPMed,gnomAD
FZD7	O75084	p.Met105Leu	rs1157551362	missense variant	-	NC_000002.12:g.202034960A>T	TOPMed
FZD7	O75084	p.Tyr106Asn	rs776377398	missense variant	-	NC_000002.12:g.202034963T>A	ExAC,gnomAD
FZD7	O75084	p.Tyr106Cys	rs1254206415	missense variant	-	NC_000002.12:g.202034964A>G	gnomAD
FZD7	O75084	p.Tyr106His	COSM1404551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202034963T>C	NCI-TCGA Cosmic
FZD7	O75084	p.Ala107Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202034966G>T	NCI-TCGA
FZD7	O75084	p.Pro108Leu	rs1470744219	missense variant	-	NC_000002.12:g.202034970C>T	gnomAD
FZD7	O75084	p.Val109Leu	rs764888077	missense variant	-	NC_000002.12:g.202034972G>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Val109Met	rs764888077	missense variant	-	NC_000002.12:g.202034972G>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ile117Met	rs757076058	missense variant	-	NC_000002.12:g.202034998C>G	ExAC,gnomAD
FZD7	O75084	p.Ile117Val	rs751252031	missense variant	-	NC_000002.12:g.202034996A>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Pro118Arg	rs893983948	missense variant	-	NC_000002.12:g.202035000C>G	TOPMed,gnomAD
FZD7	O75084	p.Pro118Gln	rs893983948	missense variant	-	NC_000002.12:g.202035000C>A	TOPMed,gnomAD
FZD7	O75084	p.Pro118Ser	rs1466062224	missense variant	-	NC_000002.12:g.202034999C>T	TOPMed
FZD7	O75084	p.Arg121Ser	rs1010905016	missense variant	-	NC_000002.12:g.202035008C>A	TOPMed,gnomAD
FZD7	O75084	p.Arg121Gly	rs1010905016	missense variant	-	NC_000002.12:g.202035008C>G	TOPMed,gnomAD
FZD7	O75084	p.Arg121Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035008C>T	NCI-TCGA
FZD7	O75084	p.Ser122Cys	rs1020354758	missense variant	-	NC_000002.12:g.202035012C>G	TOPMed
FZD7	O75084	p.Ser122Phe	rs1020354758	missense variant	-	NC_000002.12:g.202035012C>T	TOPMed
FZD7	O75084	p.Ser122Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035012C>A	NCI-TCGA
FZD7	O75084	p.Leu123Val	rs781228423	missense variant	-	NC_000002.12:g.202035014C>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Cys124Tyr	rs1365417398	missense variant	-	NC_000002.12:g.202035018G>A	gnomAD
FZD7	O75084	p.Cys124Trp	rs1230100560	missense variant	-	NC_000002.12:g.202035019C>G	TOPMed
FZD7	O75084	p.Arg126Gly	rs1448747662	missense variant	-	NC_000002.12:g.202035023C>G	gnomAD
FZD7	O75084	p.Arg126Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035023C>T	NCI-TCGA
FZD7	O75084	p.Arg128Leu	rs756159952	missense variant	-	NC_000002.12:g.202035030G>T	ExAC,gnomAD
FZD7	O75084	p.Arg128His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035030G>A	NCI-TCGA
FZD7	O75084	p.Gln129Ter	rs749785666	stop gained	-	NC_000002.12:g.202035032C>T	ExAC,gnomAD
FZD7	O75084	p.Gln129Glu	rs749785666	missense variant	-	NC_000002.12:g.202035032C>G	ExAC,gnomAD
FZD7	O75084	p.Gly130Asp	rs964070574	missense variant	-	NC_000002.12:g.202035036G>A	TOPMed
FZD7	O75084	p.Glu132Lys	rs1438604237	missense variant	-	NC_000002.12:g.202035041G>A	gnomAD
FZD7	O75084	p.Glu132Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035041G>C	NCI-TCGA
FZD7	O75084	p.Ala133Ser	rs1318881499	missense variant	-	NC_000002.12:g.202035044G>T	TOPMed
FZD7	O75084	p.Ala133Glu	COSM6156567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035045C>A	NCI-TCGA Cosmic
FZD7	O75084	p.Leu134Arg	rs748422280	missense variant	-	NC_000002.12:g.202035048T>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Leu134Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035047C>G	NCI-TCGA
FZD7	O75084	p.Asn136Ser	rs1194851481	missense variant	-	NC_000002.12:g.202035054A>G	gnomAD
FZD7	O75084	p.Lys137Met	rs1395850429	missense variant	-	NC_000002.12:g.202035057A>T	TOPMed
FZD7	O75084	p.Phe138Cys	rs1390081657	missense variant	-	NC_000002.12:g.202035060T>G	gnomAD
FZD7	O75084	p.GlnTrp141GlnTerValUnk	rs776305663	stop gained	-	NC_000002.12:g.202035069_202035072dup	ExAC,gnomAD
FZD7	O75084	p.Glu144Asp	rs1029560195	missense variant	-	NC_000002.12:g.202035079G>T	TOPMed,gnomAD
FZD7	O75084	p.Arg147Cys	rs1322672860	missense variant	-	NC_000002.12:g.202035086C>T	TOPMed,gnomAD
FZD7	O75084	p.Glu149Gly	rs1304131500	missense variant	-	NC_000002.12:g.202035093A>G	gnomAD
FZD7	O75084	p.Asn150Tyr	rs1450888277	missense variant	-	NC_000002.12:g.202035095A>T	TOPMed
FZD7	O75084	p.Phe151Tyr	rs1271936629	missense variant	-	NC_000002.12:g.202035099T>A	gnomAD
FZD7	O75084	p.Ala156Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035114C>T	NCI-TCGA
FZD7	O75084	p.Gly157Asp	rs1287956554	missense variant	-	NC_000002.12:g.202035117G>A	gnomAD
FZD7	O75084	p.Gly157Cys	rs762562271	missense variant	-	NC_000002.12:g.202035116G>T	ExAC,gnomAD
FZD7	O75084	p.Glu158Asp	rs1470150101	missense variant	-	NC_000002.12:g.202035121G>T	gnomAD
FZD7	O75084	p.Ile159Asn	rs763868554	missense variant	-	NC_000002.12:g.202035123T>A	ExAC,gnomAD
FZD7	O75084	p.Ile159Thr	rs763868554	missense variant	-	NC_000002.12:g.202035123T>C	ExAC,gnomAD
FZD7	O75084	p.Cys160Phe	rs1248026205	missense variant	-	NC_000002.12:g.202035126G>T	gnomAD
FZD7	O75084	p.Gln163Ter	rs1448135519	stop gained	-	NC_000002.12:g.202035134C>T	gnomAD
FZD7	O75084	p.Gln163Pro	rs751543710	missense variant	-	NC_000002.12:g.202035135A>C	ExAC,gnomAD
FZD7	O75084	p.Thr165Met	rs1475553188	missense variant	-	NC_000002.12:g.202035141C>T	gnomAD
FZD7	O75084	p.Ser166Leu	rs185267840	missense variant	-	NC_000002.12:g.202035144C>T	1000Genomes,TOPMed
FZD7	O75084	p.Gly168Cys	rs1162322036	missense variant	-	NC_000002.12:g.202035149G>T	gnomAD
FZD7	O75084	p.Gly170Arg	rs566038011	missense variant	-	NC_000002.12:g.202035155G>A	gnomAD
FZD7	O75084	p.Gly171Asp	rs1215406293	missense variant	-	NC_000002.12:g.202035159G>A	TOPMed
FZD7	O75084	p.Gly171Ser	rs767389004	missense variant	-	NC_000002.12:g.202035158G>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Gly171Arg	rs767389004	missense variant	-	NC_000002.12:g.202035158G>C	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Pro172Leu	rs1344501190	missense variant	-	NC_000002.12:g.202035162C>T	TOPMed
FZD7	O75084	p.Pro176Ser	rs1326327915	missense variant	-	NC_000002.12:g.202035173C>T	gnomAD
FZD7	O75084	p.Thr177Ala	rs750610497	missense variant	-	NC_000002.12:g.202035176A>G	ExAC,gnomAD
FZD7	O75084	p.Ala178Val	rs1432750092	missense variant	-	NC_000002.12:g.202035180C>T	gnomAD
FZD7	O75084	p.Pro180Ser	rs909683952	missense variant	-	NC_000002.12:g.202035185C>T	TOPMed,gnomAD
FZD7	O75084	p.Ala182Thr	rs753849552	missense variant	-	NC_000002.12:g.202035191G>A	ExAC,gnomAD
FZD7	O75084	p.Ala182Val	rs1337223448	missense variant	-	NC_000002.12:g.202035192C>T	gnomAD
FZD7	O75084	p.Pro183Leu	rs768746616	missense variant	-	NC_000002.12:g.202035195C>T	ExAC,gnomAD
FZD7	O75084	p.Pro183Arg	rs768746616	missense variant	-	NC_000002.12:g.202035195C>G	ExAC,gnomAD
FZD7	O75084	p.Pro183Ser	rs755082967	missense variant	-	NC_000002.12:g.202035194C>T	ExAC,gnomAD
FZD7	O75084	p.Leu185Pro	rs758658014	missense variant	-	NC_000002.12:g.202035201T>C	ExAC,gnomAD
FZD7	O75084	p.Leu185Val	rs748736397	missense variant	-	NC_000002.12:g.202035200C>G	ExAC,gnomAD
FZD7	O75084	p.Asp187Glu	rs778267383	missense variant	-	NC_000002.12:g.202035208C>G	ExAC,gnomAD
FZD7	O75084	p.Pro189Leu	rs745501154	missense variant	-	NC_000002.12:g.202035213C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr191Ser	rs769510212	missense variant	-	NC_000002.12:g.202035219C>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr191Ile	rs769510212	missense variant	-	NC_000002.12:g.202035219C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ala192Ser	rs1170465228	missense variant	-	NC_000002.12:g.202035221G>T	TOPMed
FZD7	O75084	p.Pro194Ser	rs748764354	missense variant	-	NC_000002.12:g.202035227C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Pro195Ala	rs1332197379	missense variant	-	NC_000002.12:g.202035230C>G	gnomAD
FZD7	O75084	p.Pro195Leu	rs1357614849	missense variant	-	NC_000002.12:g.202035231C>T	gnomAD
FZD7	O75084	p.Gly196Trp	rs774128163	missense variant	-	NC_000002.12:g.202035233G>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Gly196Arg	rs774128163	missense variant	-	NC_000002.12:g.202035233G>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Gly196Glu	rs34908164	missense variant	-	NC_000002.12:g.202035234G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Gly196Glu	rs34908164	missense variant	-	NC_000002.12:g.202035234G>A	UniProt,dbSNP
FZD7	O75084	p.Gly196Glu	VAR_033941	missense variant	-	NC_000002.12:g.202035234G>A	UniProt
FZD7	O75084	p.Ala197Thr	rs767207672	missense variant	-	NC_000002.12:g.202035236G>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ala197Val	rs1344920415	missense variant	-	NC_000002.12:g.202035237C>T	gnomAD
FZD7	O75084	p.Ala197ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.202035232G>-	NCI-TCGA
FZD7	O75084	p.Arg203His	rs762005854	missense variant	-	NC_000002.12:g.202035255G>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Arg203Cys	rs1188265651	missense variant	-	NC_000002.12:g.202035254C>T	TOPMed,gnomAD
FZD7	O75084	p.Arg203Gly	rs1188265651	missense variant	-	NC_000002.12:g.202035254C>G	TOPMed,gnomAD
FZD7	O75084	p.Pro204Ser	rs765396513	missense variant	-	NC_000002.12:g.202035257C>T	ExAC,gnomAD
FZD7	O75084	p.Pro204His	rs753137612	missense variant	-	NC_000002.12:g.202035258C>A	ExAC,gnomAD
FZD7	O75084	p.Pro204Ala	rs765396513	missense variant	-	NC_000002.12:g.202035257C>G	ExAC,gnomAD
FZD7	O75084	p.Ala205Val	rs759000866	missense variant	-	NC_000002.12:g.202035261C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Phe206Leu	rs769617465	missense variant	-	NC_000002.12:g.202035265C>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Phe206Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035264T>A	NCI-TCGA
FZD7	O75084	p.Pro207Thr	COSM4090282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035266C>A	NCI-TCGA Cosmic
FZD7	O75084	p.Phe208Tyr	rs757723607	missense variant	-	NC_000002.12:g.202035270T>A	ExAC,gnomAD
FZD7	O75084	p.Cys210Phe	rs1331049297	missense variant	-	NC_000002.12:g.202035276G>T	gnomAD
FZD7	O75084	p.Cys210Gly	rs1308072780	missense variant	-	NC_000002.12:g.202035275T>G	gnomAD
FZD7	O75084	p.Arg212Gly	rs1434026386	missense variant	-	NC_000002.12:g.202035281C>G	TOPMed,gnomAD
FZD7	O75084	p.Arg212His	rs748991312	missense variant	-	NC_000002.12:g.202035282G>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Gln213His	rs768050210	missense variant	-	NC_000002.12:g.202035286G>T	ExAC,gnomAD
FZD7	O75084	p.Gln213Glu	rs1349481688	missense variant	-	NC_000002.12:g.202035284C>G	gnomAD
FZD7	O75084	p.Gln213Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.202035284C>T	NCI-TCGA
FZD7	O75084	p.Leu214Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035287C>G	NCI-TCGA
FZD7	O75084	p.Lys215Arg	rs773973498	missense variant	-	NC_000002.12:g.202035291A>G	ExAC,gnomAD
FZD7	O75084	p.Val216Met	rs747629174	missense variant	-	NC_000002.12:g.202035293G>A	ExAC,gnomAD
FZD7	O75084	p.Pro217Leu	rs1367439438	missense variant	-	NC_000002.12:g.202035297C>T	TOPMed
FZD7	O75084	p.Pro217Ser	rs1250906059	missense variant	-	NC_000002.12:g.202035296C>T	gnomAD
FZD7	O75084	p.Pro218Ser	rs773165797	missense variant	-	NC_000002.12:g.202035299C>T	ExAC,gnomAD
FZD7	O75084	p.Pro218Leu	rs1396791730	missense variant	-	NC_000002.12:g.202035300C>T	TOPMed,gnomAD
FZD7	O75084	p.Pro218Gln	rs1396791730	missense variant	-	NC_000002.12:g.202035300C>A	TOPMed,gnomAD
FZD7	O75084	p.Gly221Asp	rs1352985249	missense variant	-	NC_000002.12:g.202035309G>A	gnomAD
FZD7	O75084	p.Tyr222Phe	rs1368373758	missense variant	-	NC_000002.12:g.202035312A>T	TOPMed
FZD7	O75084	p.Arg223Cys	rs1299122672	missense variant	-	NC_000002.12:g.202035314C>T	gnomAD
FZD7	O75084	p.Arg223His	COSM4090283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035315G>A	NCI-TCGA Cosmic
FZD7	O75084	p.Arg223Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035314C>G	NCI-TCGA
FZD7	O75084	p.Arg228Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035329C>T	NCI-TCGA
FZD7	O75084	p.Cys230Tyr	rs1306993536	missense variant	-	NC_000002.12:g.202035336G>A	TOPMed
FZD7	O75084	p.Ala232Ser	rs776801836	missense variant	-	NC_000002.12:g.202035341G>T	ExAC,gnomAD
FZD7	O75084	p.Ala232Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035341G>A	NCI-TCGA
FZD7	O75084	p.Pro233Gln	rs373396669	missense variant	-	NC_000002.12:g.202035345C>A	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Cys234Ter	rs1206130077	stop gained	-	NC_000002.12:g.202035349C>A	gnomAD
FZD7	O75084	p.Glu235Gln	rs1251500958	missense variant	-	NC_000002.12:g.202035350G>C	gnomAD
FZD7	O75084	p.Glu235Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035350G>A	NCI-TCGA
FZD7	O75084	p.Pro236Leu	rs762942182	missense variant	-	NC_000002.12:g.202035354C>T	ExAC
FZD7	O75084	p.Arg238Cys	rs752131418	missense variant	-	NC_000002.12:g.202035359C>T	ExAC,gnomAD
FZD7	O75084	p.Ala239Thr	rs1432587635	missense variant	-	NC_000002.12:g.202035362G>A	TOPMed
FZD7	O75084	p.Leu242Pro	rs370505613	missense variant	-	NC_000002.12:g.202035372T>C	ESP,ExAC,gnomAD
FZD7	O75084	p.Met243Ile	rs1219913507	missense variant	-	NC_000002.12:g.202035376G>A	gnomAD
FZD7	O75084	p.Lys246Glu	rs778438593	missense variant	-	NC_000002.12:g.202035383A>G	ExAC
FZD7	O75084	p.Glu247Lys	rs747655093	missense variant	-	NC_000002.12:g.202035386G>A	ExAC,gnomAD
FZD7	O75084	p.Glu247Gly	rs1368102077	missense variant	-	NC_000002.12:g.202035387A>G	gnomAD
FZD7	O75084	p.Glu247Gln	rs747655093	missense variant	-	NC_000002.12:g.202035386G>C	ExAC,gnomAD
FZD7	O75084	p.Glu248Lys	rs1328263001	missense variant	-	NC_000002.12:g.202035389G>A	TOPMed,gnomAD
FZD7	O75084	p.Glu249Lys	rs1434945843	missense variant	-	NC_000002.12:g.202035392G>A	gnomAD
FZD7	O75084	p.Glu249Asp	rs1319336726	missense variant	-	NC_000002.12:g.202035394G>C	gnomAD
FZD7	O75084	p.Arg250Gly	rs374592078	missense variant	-	NC_000002.12:g.202035395A>G	ESP,TOPMed
FZD7	O75084	p.Arg251Cys	COSM4090285	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035398C>T	NCI-TCGA Cosmic
FZD7	O75084	p.Arg251Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035399G>C	NCI-TCGA
FZD7	O75084	p.Phe252Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035402T>C	NCI-TCGA
FZD7	O75084	p.Ala253Ser	rs1208459790	missense variant	-	NC_000002.12:g.202035404G>T	TOPMed
FZD7	O75084	p.Ala253Val	rs1295925810	missense variant	-	NC_000002.12:g.202035405C>T	gnomAD
FZD7	O75084	p.Leu255Phe	rs140897513	missense variant	-	NC_000002.12:g.202035410C>T	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Trp256Cys	rs776466891	missense variant	-	NC_000002.12:g.202035415G>C	ExAC,gnomAD
FZD7	O75084	p.Val257Met	rs759263156	missense variant	-	NC_000002.12:g.202035416G>A	ExAC,gnomAD
FZD7	O75084	p.Val259Met	rs769990859	missense variant	-	NC_000002.12:g.202035422G>A	ExAC,gnomAD
FZD7	O75084	p.Val259Leu	rs769990859	missense variant	-	NC_000002.12:g.202035422G>T	ExAC,gnomAD
FZD7	O75084	p.Trp260Ter	rs1486923501	stop gained	-	NC_000002.12:g.202035426G>A	gnomAD
FZD7	O75084	p.Ser267Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035447C>T	NCI-TCGA
FZD7	O75084	p.Thr268Ser	rs369157584	missense variant	-	NC_000002.12:g.202035449A>T	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr268Ala	rs369157584	missense variant	-	NC_000002.12:g.202035449A>G	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr271Ile	rs371541002	missense variant	-	NC_000002.12:g.202035459C>T	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr271Ser	rs371541002	missense variant	-	NC_000002.12:g.202035459C>G	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr271Ala	rs1300922220	missense variant	-	NC_000002.12:g.202035458A>G	TOPMed
FZD7	O75084	p.Val272Ile	rs778579874	missense variant	-	NC_000002.12:g.202035461G>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Val272Phe	rs778579874	missense variant	-	NC_000002.12:g.202035461G>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr274Ile	rs1412486458	missense variant	-	NC_000002.12:g.202035468C>T	gnomAD
FZD7	O75084	p.Thr274Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035468C>A	NCI-TCGA
FZD7	O75084	p.Val277Ala	rs757874303	missense variant	-	NC_000002.12:g.202035477T>C	ExAC,gnomAD
FZD7	O75084	p.Met279Ile	rs375789778	missense variant	-	NC_000002.12:g.202035484G>A	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Pro285Leu	rs1181462221	missense variant	-	NC_000002.12:g.202035501C>T	TOPMed
FZD7	O75084	p.Arg287Gln	rs1039747640	missense variant	-	NC_000002.12:g.202035507G>A	TOPMed
FZD7	O75084	p.Arg287Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035506C>T	NCI-TCGA
FZD7	O75084	p.Pro288Arg	rs746933869	missense variant	-	NC_000002.12:g.202035510C>G	ExAC
FZD7	O75084	p.Ile289Val	rs112587415	missense variant	-	NC_000002.12:g.202035512A>G	gnomAD
FZD7	O75084	p.Ile289Met	rs781110747	missense variant	-	NC_000002.12:g.202035514C>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ile290Met	rs982963006	missense variant	-	NC_000002.12:g.202035517C>G	TOPMed,gnomAD
FZD7	O75084	p.Ile290Val	rs1180531030	missense variant	-	NC_000002.12:g.202035515A>G	TOPMed
FZD7	O75084	p.Ser293Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035524T>C	NCI-TCGA
FZD7	O75084	p.Cys295Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035530T>G	NCI-TCGA
FZD7	O75084	p.Tyr296Ser	rs1451395018	missense variant	-	NC_000002.12:g.202035534A>C	gnomAD
FZD7	O75084	p.Met298Thr	rs1159226499	missense variant	-	NC_000002.12:g.202035540T>C	gnomAD
FZD7	O75084	p.Met298Val	rs763122149	missense variant	-	NC_000002.12:g.202035539A>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.His303Tyr	rs1341945140	missense variant	-	NC_000002.12:g.202035554C>T	TOPMed
FZD7	O75084	p.Ala305Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035561C>T	NCI-TCGA
FZD7	O75084	p.Leu309Val	rs1038142339	missense variant	-	NC_000002.12:g.202035572C>G	TOPMed
FZD7	O75084	p.Glu310Lys	rs1193536366	missense variant	-	NC_000002.12:g.202035575G>A	gnomAD
FZD7	O75084	p.Glu310Gly	rs201306518	missense variant	-	NC_000002.12:g.202035576A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Asp311Glu	rs1300462405	missense variant	-	NC_000002.12:g.202035580C>A	gnomAD
FZD7	O75084	p.Asp311Gly	rs766695859	missense variant	-	NC_000002.12:g.202035579A>G	ExAC,gnomAD
FZD7	O75084	p.Asp311Val	rs766695859	missense variant	-	NC_000002.12:g.202035579A>T	ExAC,gnomAD
FZD7	O75084	p.Asp311Asn	rs761079277	missense variant	-	NC_000002.12:g.202035578G>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Arg312His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035582G>A	NCI-TCGA
FZD7	O75084	p.Arg312Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035582G>C	NCI-TCGA
FZD7	O75084	p.Ala313Val	rs1213097813	missense variant	-	NC_000002.12:g.202035585C>T	gnomAD
FZD7	O75084	p.Ala313Thr	rs1458457825	missense variant	-	NC_000002.12:g.202035584G>A	TOPMed
FZD7	O75084	p.Val316Ala	rs1171032851	missense variant	-	NC_000002.12:g.202035594T>C	TOPMed,gnomAD
FZD7	O75084	p.Val316Met	rs1202884817	missense variant	-	NC_000002.12:g.202035593G>A	gnomAD
FZD7	O75084	p.Arg318Pro	rs962532274	missense variant	-	NC_000002.12:g.202035600G>C	TOPMed,gnomAD
FZD7	O75084	p.Phe319Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035604C>A	NCI-TCGA
FZD7	O75084	p.Asp321Glu	rs376375888	missense variant	-	NC_000002.12:g.202035610C>A	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Asp322Tyr	rs201094355	missense variant	-	NC_000002.12:g.202035611G>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Asp322Asn	COSM1326518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035611G>A	NCI-TCGA Cosmic
FZD7	O75084	p.Gly323Val	rs756791088	missense variant	-	NC_000002.12:g.202035615G>T	ExAC,gnomAD
FZD7	O75084	p.Gly323Asp	COSM5009944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035615G>A	NCI-TCGA Cosmic
FZD7	O75084	p.Tyr324Ter	COSM3990979	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.202035619C>G	NCI-TCGA Cosmic
FZD7	O75084	p.Thr326Arg	rs755903607	missense variant	-	NC_000002.12:g.202035624C>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr326Met	rs755903607	missense variant	-	NC_000002.12:g.202035624C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Val327Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035626G>A	NCI-TCGA
FZD7	O75084	p.Ala328Ser	rs1399375323	missense variant	-	NC_000002.12:g.202035629G>T	gnomAD
FZD7	O75084	p.Ala328Glu	rs373015204	missense variant	-	NC_000002.12:g.202035630C>A	ESP,TOPMed
FZD7	O75084	p.Gly330Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035636G>A	NCI-TCGA
FZD7	O75084	p.Glu334Gly	rs1356099942	missense variant	-	NC_000002.12:g.202035648A>G	gnomAD
FZD7	O75084	p.Gly335Val	rs981229079	missense variant	-	NC_000002.12:g.202035651G>T	TOPMed,gnomAD
FZD7	O75084	p.Gly335Ser	rs1263109646	missense variant	-	NC_000002.12:g.202035650G>A	TOPMed
FZD7	O75084	p.Ile338Val	rs768936211	missense variant	-	NC_000002.12:g.202035659A>G	ExAC,gnomAD
FZD7	O75084	p.Leu339Val	rs748190045	missense variant	-	NC_000002.12:g.202035662C>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Leu339Phe	rs748190045	missense variant	-	NC_000002.12:g.202035662C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Phe340HisPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.202035662_202035663CT>-	NCI-TCGA
FZD7	O75084	p.Phe346Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035685C>A	NCI-TCGA
FZD7	O75084	p.Gly347Arg	rs766751333	missense variant	-	NC_000002.12:g.202035686G>C	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Met348Thr	rs776802145	missense variant	-	NC_000002.12:g.202035690T>C	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ala349Val	rs964122959	missense variant	-	NC_000002.12:g.202035693C>T	TOPMed,gnomAD
FZD7	O75084	p.Ala349Gly	rs964122959	missense variant	-	NC_000002.12:g.202035693C>G	TOPMed,gnomAD
FZD7	O75084	p.Trp353Cys	rs1395116969	missense variant	-	NC_000002.12:g.202035706G>T	gnomAD
FZD7	O75084	p.Trp353Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035704T>A	NCI-TCGA
FZD7	O75084	p.Val355Ala	rs751230509	missense variant	-	NC_000002.12:g.202035711T>C	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Val355Ile	rs763695398	missense variant	-	NC_000002.12:g.202035710G>A	ExAC
FZD7	O75084	p.Ser358Phe	rs1165837627	missense variant	-	NC_000002.12:g.202035720C>T	gnomAD
FZD7	O75084	p.Trp361Cys	rs1421184136	missense variant	-	NC_000002.12:g.202035730G>C	gnomAD
FZD7	O75084	p.Trp361Gly	rs1052627983	missense variant	-	NC_000002.12:g.202035728T>G	TOPMed,gnomAD
FZD7	O75084	p.Ala364Glu	rs144653732	missense variant	-	NC_000002.12:g.202035738C>A	ESP,TOPMed,gnomAD
FZD7	O75084	p.Ala364Val	rs144653732	missense variant	-	NC_000002.12:g.202035738C>T	ESP,TOPMed,gnomAD
FZD7	O75084	p.Ala365Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035740G>A	NCI-TCGA
FZD7	O75084	p.Gly366Asp	rs766972889	missense variant	-	NC_000002.12:g.202035744G>A	ExAC,gnomAD
FZD7	O75084	p.Met367Ile	rs1208720088	missense variant	-	NC_000002.12:g.202035748G>C	TOPMed
FZD7	O75084	p.Met367Leu	rs1326702622	missense variant	-	NC_000002.12:g.202035746A>C	gnomAD
FZD7	O75084	p.Glu375Ter	rs1483210850	stop gained	-	NC_000002.12:g.202035770G>T	TOPMed
FZD7	O75084	p.Glu375Lys	COSM3576396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035770G>A	NCI-TCGA Cosmic
FZD7	O75084	p.Ala376Thr	rs1272206298	missense variant	-	NC_000002.12:g.202035773G>A	gnomAD
FZD7	O75084	p.Asn377Asp	rs1340237363	missense variant	-	NC_000002.12:g.202035776A>G	gnomAD
FZD7	O75084	p.Asn377His	rs1340237363	missense variant	-	NC_000002.12:g.202035776A>C	gnomAD
FZD7	O75084	p.Ser378Pro	rs1271603959	missense variant	-	NC_000002.12:g.202035779T>C	gnomAD
FZD7	O75084	p.Tyr380Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035785T>A	NCI-TCGA
FZD7	O75084	p.His382Tyr	COSM3576397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035791C>T	NCI-TCGA Cosmic
FZD7	O75084	p.Leu383Val	rs749054651	missense variant	-	NC_000002.12:g.202035794C>G	ExAC,gnomAD
FZD7	O75084	p.Ala384Ser	rs754845922	missense variant	-	NC_000002.12:g.202035797G>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ala385Val	rs202180353	missense variant	-	NC_000002.12:g.202035801C>T	1000Genomes,ExAC,gnomAD
FZD7	O75084	p.Val388Met	rs1163977982	missense variant	-	NC_000002.12:g.202035809G>A	TOPMed,gnomAD
FZD7	O75084	p.Ala390Thr	rs747123860	missense variant	-	NC_000002.12:g.202035815G>A	ExAC,gnomAD
FZD7	O75084	p.Thr393Ser	rs1380670871	missense variant	-	NC_000002.12:g.202035825C>G	TOPMed,gnomAD
FZD7	O75084	p.Ile394Val	rs149352549	missense variant	-	NC_000002.12:g.202035827A>G	ESP,ExAC,gnomAD
FZD7	O75084	p.Thr395Ala	rs1327270604	missense variant	-	NC_000002.12:g.202035830A>G	gnomAD
FZD7	O75084	p.Ile396Val	rs1291635079	missense variant	-	NC_000002.12:g.202035833A>G	TOPMed,gnomAD
FZD7	O75084	p.Ile396Leu	rs1291635079	missense variant	-	NC_000002.12:g.202035833A>C	TOPMed,gnomAD
FZD7	O75084	p.Met399Val	rs1376413817	missense variant	-	NC_000002.12:g.202035842A>G	TOPMed
FZD7	O75084	p.Gly400Asp	rs767037777	missense variant	-	NC_000002.12:g.202035846G>A	ExAC,gnomAD
FZD7	O75084	p.Gln401His	rs760267744	missense variant	-	NC_000002.12:g.202035850G>C	ExAC,gnomAD
FZD7	O75084	p.Gln401Leu	rs749838885	missense variant	-	NC_000002.12:g.202035849A>T	ExAC,gnomAD
FZD7	O75084	p.Asp403Glu	rs766182243	missense variant	-	NC_000002.12:g.202035856C>G	ExAC,gnomAD
FZD7	O75084	p.Asp403Gly	rs1488988626	missense variant	-	NC_000002.12:g.202035855A>G	gnomAD
FZD7	O75084	p.Gly404Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035858G>T	NCI-TCGA
FZD7	O75084	p.Leu406Met	rs138410404	missense variant	-	NC_000002.12:g.202035863C>A	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Leu406Val	rs138410404	missense variant	-	NC_000002.12:g.202035863C>G	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Leu407Arg	rs754790390	missense variant	-	NC_000002.12:g.202035867T>G	ExAC,gnomAD
FZD7	O75084	p.Ser408Gly	rs778919951	missense variant	-	NC_000002.12:g.202035869A>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Gly409Arg	rs376228466	missense variant	-	NC_000002.12:g.202035872G>C	ESP,ExAC,gnomAD
FZD7	O75084	p.Gly409Arg	rs376228466	missense variant	-	NC_000002.12:g.202035872G>A	ESP,ExAC,gnomAD
FZD7	O75084	p.Val410Ala	rs747019981	missense variant	-	NC_000002.12:g.202035876T>C	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Tyr412Ter	rs1377495934	stop gained	-	NC_000002.12:g.202035883C>A	gnomAD
FZD7	O75084	p.Tyr412His	rs1351203371	missense variant	-	NC_000002.12:g.202035881T>C	TOPMed
FZD7	O75084	p.Gly414Ala	rs1415784012	missense variant	-	NC_000002.12:g.202035888G>C	gnomAD
FZD7	O75084	p.Ser417Cys	rs139393561	missense variant	-	NC_000002.12:g.202035896A>T	ESP,ExAC,gnomAD
FZD7	O75084	p.Ala420Gly	rs775888500	missense variant	-	NC_000002.12:g.202035906C>G	ExAC,gnomAD
FZD7	O75084	p.Ala420Ser	rs770136662	missense variant	-	NC_000002.12:g.202035905G>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ala420Val	COSM281276	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035906C>T	NCI-TCGA Cosmic
FZD7	O75084	p.Arg422Trp	rs763382154	missense variant	-	NC_000002.12:g.202035911C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Gly423Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035915G>C	NCI-TCGA
FZD7	O75084	p.Val425Leu	rs771586697	missense variant	-	NC_000002.12:g.202035920G>T	ExAC,gnomAD
FZD7	O75084	p.Val431Ile	rs139806141	missense variant	-	NC_000002.12:g.202035938G>A	ESP,TOPMed
FZD7	O75084	p.Tyr432Cys	rs765955164	missense variant	-	NC_000002.12:g.202035942A>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Leu433Phe	rs753824459	missense variant	-	NC_000002.12:g.202035944C>T	ExAC,gnomAD
FZD7	O75084	p.Phe434Leu	rs759605888	missense variant	-	NC_000002.12:g.202035949C>A	ExAC,gnomAD
FZD7	O75084	p.Ile435Val	rs559202385	missense variant	-	NC_000002.12:g.202035950A>G	1000Genomes,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ile435Met	rs945271936	missense variant	-	NC_000002.12:g.202035952A>G	TOPMed
FZD7	O75084	p.Thr437Pro	rs1171767397	missense variant	-	NC_000002.12:g.202035956A>C	gnomAD
FZD7	O75084	p.Thr437Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035957C>T	NCI-TCGA
FZD7	O75084	p.Leu441Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035969T>A	NCI-TCGA
FZD7	O75084	p.Ser446Cys	rs777808101	missense variant	-	NC_000002.12:g.202035984C>G	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ser446Phe	rs777808101	missense variant	-	NC_000002.12:g.202035984C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Leu447Phe	rs1370906276	missense variant	-	NC_000002.12:g.202035986C>T	gnomAD
FZD7	O75084	p.Arg449His	rs781312452	missense variant	-	NC_000002.12:g.202035993G>A	ExAC,gnomAD
FZD7	O75084	p.Arg449Cys	COSM2907826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035992C>T	NCI-TCGA Cosmic
FZD7	O75084	p.Arg449Leu	COSM6156565	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202035993G>T	NCI-TCGA Cosmic
FZD7	O75084	p.Ile450Ser	rs1237684776	missense variant	-	NC_000002.12:g.202035996T>G	TOPMed
FZD7	O75084	p.Arg451Cys	rs746357590	missense variant	-	NC_000002.12:g.202035998C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Arg451His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202035999G>A	NCI-TCGA
FZD7	O75084	p.Thr452Ser	rs1233571370	missense variant	-	NC_000002.12:g.202036001A>T	gnomAD
FZD7	O75084	p.Met454Thr	rs1209287192	missense variant	-	NC_000002.12:g.202036008T>C	TOPMed
FZD7	O75084	p.Gly458Val	rs146693247	missense variant	-	NC_000002.12:g.202036020G>T	ESP
FZD7	O75084	p.Lys460Asn	COSM1306309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036027G>C	NCI-TCGA Cosmic
FZD7	O75084	p.Thr461Asn	rs780572956	missense variant	-	NC_000002.12:g.202036029C>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Thr461Ile	rs780572956	missense variant	-	NC_000002.12:g.202036029C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Glu462Lys	rs749570044	missense variant	-	NC_000002.12:g.202036031G>A	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Glu462Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036032A>G	NCI-TCGA
FZD7	O75084	p.Met468Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036050T>C	NCI-TCGA
FZD7	O75084	p.Arg470Cys	COSM2907828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036055C>T	NCI-TCGA Cosmic
FZD7	O75084	p.Arg470His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036056G>A	NCI-TCGA
FZD7	O75084	p.Val473Leu	rs201191053	missense variant	-	NC_000002.12:g.202036064G>C	1000Genomes,ExAC,gnomAD
FZD7	O75084	p.Val473Ile	rs201191053	missense variant	-	NC_000002.12:g.202036064G>A	1000Genomes,ExAC,gnomAD
FZD7	O75084	p.Ser475Cys	rs772709570	missense variant	-	NC_000002.12:g.202036070A>T	ExAC,gnomAD
FZD7	O75084	p.Val476Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036073G>T	NCI-TCGA
FZD7	O75084	p.Thr483Ile	rs1168789891	missense variant	-	NC_000002.12:g.202036095C>T	gnomAD
FZD7	O75084	p.Ile484Val	rs770553279	missense variant	-	NC_000002.12:g.202036097A>G	ExAC,gnomAD
FZD7	O75084	p.Ile484Met	rs776225705	missense variant	-	NC_000002.12:g.202036099C>G	ExAC,gnomAD
FZD7	O75084	p.Val485Ile	COSM1404557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036100G>A	NCI-TCGA Cosmic
FZD7	O75084	p.Leu486Pro	rs1226633427	missense variant	-	NC_000002.12:g.202036104T>C	TOPMed
FZD7	O75084	p.Leu486Met	rs759120037	missense variant	-	NC_000002.12:g.202036103C>A	ExAC,gnomAD
FZD7	O75084	p.Ala487Val	rs35600847	missense variant	-	NC_000002.12:g.202036107C>T	UniProt,dbSNP
FZD7	O75084	p.Ala487Val	VAR_033942	missense variant	-	NC_000002.12:g.202036107C>T	UniProt
FZD7	O75084	p.Ala487Val	rs35600847	missense variant	-	NC_000002.12:g.202036107C>T	-
FZD7	O75084	p.Cys488Tyr	rs1350289407	missense variant	-	NC_000002.12:g.202036110G>A	TOPMed
FZD7	O75084	p.Tyr489Cys	rs1284972017	missense variant	-	NC_000002.12:g.202036113A>G	TOPMed
FZD7	O75084	p.Tyr489Asn	rs1372601818	missense variant	-	NC_000002.12:g.202036112T>A	gnomAD
FZD7	O75084	p.Tyr489Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.202036114C>A	NCI-TCGA
FZD7	O75084	p.Phe490Leu	rs765225022	missense variant	-	NC_000002.12:g.202036117C>A	ExAC,gnomAD
FZD7	O75084	p.Gln493His	rs775589753	missense variant	-	NC_000002.12:g.202036126G>T	ExAC,gnomAD
FZD7	O75084	p.Ala494Val	rs762632983	missense variant	-	NC_000002.12:g.202036128C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Phe495Leu	rs1436477460	missense variant	-	NC_000002.12:g.202036130T>C	TOPMed
FZD7	O75084	p.His498Tyr	rs1258416034	missense variant	-	NC_000002.12:g.202036139C>T	TOPMed,gnomAD
FZD7	O75084	p.Trp499Ter	COSM3838317	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.202036143G>A	NCI-TCGA Cosmic
FZD7	O75084	p.Arg501Cys	rs1334110194	missense variant	-	NC_000002.12:g.202036148C>T	gnomAD
FZD7	O75084	p.Arg501His	COSM4764401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036149G>A	NCI-TCGA Cosmic
FZD7	O75084	p.Thr507Met	COSM1014998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036167C>T	NCI-TCGA Cosmic
FZD7	O75084	p.Cys508Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036170G>A	NCI-TCGA
FZD7	O75084	p.Lys509Asn	COSM3798522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036174G>C	NCI-TCGA Cosmic
FZD7	O75084	p.Tyr511Ter	rs1356408833	stop gained	-	NC_000002.12:g.202036180T>G	gnomAD
FZD7	O75084	p.Tyr511Ter	rs751432827	stop gained	-	NC_000002.12:g.202036179dup	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ala512Asp	rs541873049	missense variant	-	NC_000002.12:g.202036182C>A	1000Genomes,ExAC,gnomAD
FZD7	O75084	p.Ala512Gly	rs541873049	missense variant	-	NC_000002.12:g.202036182C>G	1000Genomes,ExAC,gnomAD
FZD7	O75084	p.Pro514Leu	rs1188964012	missense variant	-	NC_000002.12:g.202036188C>T	TOPMed
FZD7	O75084	p.Pro516Leu	rs1253159878	missense variant	-	NC_000002.12:g.202036194C>T	-
FZD7	O75084	p.Pro516Ala	rs1287718003	missense variant	-	NC_000002.12:g.202036193C>G	gnomAD
FZD7	O75084	p.Pro517Leu	rs1213783275	missense variant	-	NC_000002.12:g.202036197C>T	TOPMed
FZD7	O75084	p.Gly518Asp	rs1278406659	missense variant	-	NC_000002.12:g.202036200G>A	gnomAD
FZD7	O75084	p.Gly518Cys	COSM1404558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036199G>T	NCI-TCGA Cosmic
FZD7	O75084	p.His519Gln	rs775255613	missense variant	-	NC_000002.12:g.202036204C>G	ExAC,gnomAD
FZD7	O75084	p.His519Arg	rs769473710	missense variant	-	NC_000002.12:g.202036203A>G	ExAC,gnomAD
FZD7	O75084	p.His519Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036202C>T	NCI-TCGA
FZD7	O75084	p.Phe520Leu	rs763013166	missense variant	-	NC_000002.12:g.202036207C>G	ExAC,gnomAD
FZD7	O75084	p.Phe520Leu	rs946938708	missense variant	-	NC_000002.12:g.202036205T>C	TOPMed
FZD7	O75084	p.Pro521Arg	rs891140187	missense variant	-	NC_000002.12:g.202036209C>G	TOPMed,gnomAD
FZD7	O75084	p.Pro521Ser	rs1322184413	missense variant	-	NC_000002.12:g.202036208C>T	gnomAD
FZD7	O75084	p.Met523Val	rs763782149	missense variant	-	NC_000002.12:g.202036214A>G	ExAC,gnomAD
FZD7	O75084	p.Met523Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036215T>C	NCI-TCGA
FZD7	O75084	p.Ser524Asn	rs1486871073	missense variant	-	NC_000002.12:g.202036218G>A	gnomAD
FZD7	O75084	p.Pro525Ala	rs1211876804	missense variant	-	NC_000002.12:g.202036220C>G	gnomAD
FZD7	O75084	p.Asp526Asn	rs774136031	missense variant	-	NC_000002.12:g.202036223G>A	ExAC,gnomAD
FZD7	O75084	p.Thr528Ser	rs1237694457	missense variant	-	NC_000002.12:g.202036230C>G	TOPMed,gnomAD
FZD7	O75084	p.Phe530Leu	rs767678664	missense variant	-	NC_000002.12:g.202036237C>A	ExAC,gnomAD
FZD7	O75084	p.Met531Val	rs140867221	missense variant	-	NC_000002.12:g.202036238A>G	ESP
FZD7	O75084	p.Met531Ile	rs1190426799	missense variant	-	NC_000002.12:g.202036240G>A	TOPMed,gnomAD
FZD7	O75084	p.Met531Ile	rs1190426799	missense variant	-	NC_000002.12:g.202036240G>T	TOPMed,gnomAD
FZD7	O75084	p.Lys533Arg	rs1415169873	missense variant	-	NC_000002.12:g.202036245A>G	gnomAD
FZD7	O75084	p.Lys533Asn	rs750694306	missense variant	-	NC_000002.12:g.202036246G>C	ExAC,gnomAD
FZD7	O75084	p.Met536Ile	rs756155956	missense variant	-	NC_000002.12:g.202036255G>T	ExAC,gnomAD
FZD7	O75084	p.Thr537Ala	rs1342968635	missense variant	-	NC_000002.12:g.202036256A>G	gnomAD
FZD7	O75084	p.Met538Thr	rs766517331	missense variant	-	NC_000002.12:g.202036260T>C	ExAC,gnomAD
FZD7	O75084	p.Met538Val	rs1420967138	missense variant	-	NC_000002.12:g.202036259A>G	gnomAD
FZD7	O75084	p.Ile539Thr	rs368139563	missense variant	-	NC_000002.12:g.202036263T>C	ESP,TOPMed,gnomAD
FZD7	O75084	p.Val540Ile	rs754291190	missense variant	-	NC_000002.12:g.202036265G>A	ExAC,gnomAD
FZD7	O75084	p.Ile542Phe	rs1176490445	missense variant	-	NC_000002.12:g.202036271A>T	gnomAD
FZD7	O75084	p.Ile542Val	COSM4090288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036271A>G	NCI-TCGA Cosmic
FZD7	O75084	p.Thr543Ile	rs748503156	missense variant	-	NC_000002.12:g.202036275C>T	ExAC,gnomAD
FZD7	O75084	p.Thr544Ile	rs1403313159	missense variant	-	NC_000002.12:g.202036278C>T	TOPMed
FZD7	O75084	p.Gly545Ala	rs528874438	missense variant	-	NC_000002.12:g.202036281G>C	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Trp547Ter	rs769424376	stop gained	-	NC_000002.12:g.202036288G>A	ExAC,gnomAD
FZD7	O75084	p.Ile548Val	rs372045596	missense variant	-	NC_000002.12:g.202036289A>G	ESP,ExAC,TOPMed,gnomAD
FZD7	O75084	p.Ile548Asn	rs748759824	missense variant	-	NC_000002.12:g.202036290T>A	ExAC,gnomAD
FZD7	O75084	p.Ser550Leu	rs768569299	missense variant	-	NC_000002.12:g.202036296C>T	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Lys552Asn	rs774179533	missense variant	-	NC_000002.12:g.202036303G>C	ExAC,gnomAD
FZD7	O75084	p.Ser556Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036314C>T	NCI-TCGA
FZD7	O75084	p.Arg558Cys	rs1480494909	missense variant	-	NC_000002.12:g.202036319C>T	gnomAD
FZD7	O75084	p.Arg559His	rs1410790493	missense variant	-	NC_000002.12:g.202036323G>A	TOPMed,gnomAD
FZD7	O75084	p.Arg559Ser	rs761575550	missense variant	-	NC_000002.12:g.202036322C>A	ExAC,gnomAD
FZD7	O75084	p.Phe560Leu	rs1441079594	missense variant	-	NC_000002.12:g.202036325T>C	gnomAD
FZD7	O75084	p.Phe560Leu	COSM4832294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036327C>G	NCI-TCGA Cosmic
FZD7	O75084	p.His562Arg	rs771894898	missense variant	-	NC_000002.12:g.202036332A>G	ExAC,gnomAD
FZD7	O75084	p.Arg563Ser	rs773419766	missense variant	-	NC_000002.12:g.202036336A>T	ExAC,gnomAD
FZD7	O75084	p.Arg563Gly	rs1394116238	missense variant	-	NC_000002.12:g.202036334A>G	gnomAD
FZD7	O75084	p.Arg563Ter	COSM6156564	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.202036334A>T	NCI-TCGA Cosmic
FZD7	O75084	p.Leu564Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036338T>G	NCI-TCGA
FZD7	O75084	p.Ser565Asn	rs1489938804	missense variant	-	NC_000002.12:g.202036341G>A	TOPMed
FZD7	O75084	p.Ser565Gly	rs565714072	missense variant	-	NC_000002.12:g.202036340A>G	ExAC
FZD7	O75084	p.Ser565Arg	rs766526311	missense variant	-	NC_000002.12:g.202036342C>A	ExAC,gnomAD
FZD7	O75084	p.Lys569Arg	rs1359574039	missense variant	-	NC_000002.12:g.202036353A>G	gnomAD
FZD7	O75084	p.Gly570Arg	rs1296448475	missense variant	-	NC_000002.12:g.202036355G>A	gnomAD
FZD7	O75084	p.Glu571Asp	rs765723806	missense variant	-	NC_000002.12:g.202036360G>C	ExAC,TOPMed,gnomAD
FZD7	O75084	p.Glu571Ter	rs1378933730	stop gained	-	NC_000002.12:g.202036358G>T	gnomAD
FZD7	O75084	p.Glu571Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202036359A>G	NCI-TCGA
FZD7	O75084	p.Ala573Val	COSM1736252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202036365C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Arg2Lys	rs1297553790	missense variant	-	NC_000011.10:g.46918375C>T	gnomAD
LRP4	O75096	p.Trp5Arg	rs550380380	missense variant	-	NC_000011.10:g.46918367A>G	1000Genomes
LRP4	O75096	p.Ala7Thr	rs774522355	missense variant	-	NC_000011.10:g.46918361C>T	ExAC,gnomAD
LRP4	O75096	p.Ala12Val	rs771113574	missense variant	-	NC_000011.10:g.46918345G>A	ExAC,gnomAD
LRP4	O75096	p.Leu14Phe	rs1448310579	missense variant	-	NC_000011.10:g.46918340G>A	TOPMed
LRP4	O75096	p.His17Gln	rs1468417987	missense variant	-	NC_000011.10:g.46918329G>C	gnomAD
LRP4	O75096	p.Gly18Asp	rs200914006	missense variant	-	NC_000011.10:g.46902929C>T	1000Genomes,TOPMed
LRP4	O75096	p.Ala20Gly	rs542378473	missense variant	-	NC_000011.10:g.46902923G>C	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser22Ile	rs777229906	missense variant	-	NC_000011.10:g.46902917C>A	ExAC,gnomAD
LRP4	O75096	p.Glu24Lys	rs200465829	missense variant	-	NC_000011.10:g.46902912C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly28Asp	rs1183268699	missense variant	-	NC_000011.10:g.46902899C>T	gnomAD
LRP4	O75096	p.Arg29Gln	rs752084061	missense variant	-	NC_000011.10:g.46902896C>T	ExAC,gnomAD
LRP4	O75096	p.Arg29Trp	rs146259656	missense variant	-	NC_000011.10:g.46902897G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser37Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46902871A>T	NCI-TCGA
LRP4	O75096	p.Ala38Val	rs762929666	missense variant	-	NC_000011.10:g.46902869G>A	ExAC,gnomAD
LRP4	O75096	p.Glu41Lys	rs773501026	missense variant	-	NC_000011.10:g.46902861C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile45Val	rs1378468014	missense variant	-	NC_000011.10:g.46902849T>C	TOPMed
LRP4	O75096	p.Ala47Asp	rs1314654325	missense variant	-	NC_000011.10:g.46902842G>T	gnomAD
LRP4	O75096	p.Gln48Pro	rs1309344878	missense variant	-	NC_000011.10:g.46902839T>G	TOPMed
LRP4	O75096	p.Asp54Glu	rs745869587	missense variant	-	NC_000011.10:g.46902820G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp54Glu	COSM1492513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46902820G>T	NCI-TCGA Cosmic
LRP4	O75096	p.Asn55Ser	rs774255246	missense variant	-	NC_000011.10:g.46902818T>C	ExAC,gnomAD
LRP4	O75096	p.Asn55His	rs1362943824	missense variant	-	NC_000011.10:g.46902819T>G	TOPMed,gnomAD
LRP4	O75096	p.Cys57Trp	COSM6132719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46902811G>C	NCI-TCGA Cosmic
LRP4	O75096	p.Gly58Arg	RCV000380362	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46902810C>T	ClinVar
LRP4	O75096	p.Gly58Arg	rs139901577	missense variant	-	NC_000011.10:g.46902810C>T	ESP,TOPMed,gnomAD
LRP4	O75096	p.Asp59GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46902806_46902807insC	NCI-TCGA
LRP4	O75096	p.Asp64Glu	rs747813561	missense variant	-	NC_000011.10:g.46902790A>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp64Asn	rs1186531891	missense variant	-	NC_000011.10:g.46902792C>T	gnomAD
LRP4	O75096	p.Asp64Val	rs755671929	missense variant	-	NC_000011.10:g.46902791T>A	ExAC,gnomAD
LRP4	O75096	p.Leu68Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46900376G>T	NCI-TCGA
LRP4	O75096	p.Thr70Ala	rs772646348	missense variant	-	NC_000011.10:g.46900370T>C	ExAC,gnomAD
LRP4	O75096	p.Ser72Phe	rs1299239483	missense variant	-	NC_000011.10:g.46900363G>A	gnomAD
LRP4	O75096	p.Pro73Ser	rs1462100682	missense variant	-	NC_000011.10:g.46900361G>A	gnomAD
LRP4	O75096	p.Leu74Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46900358G>T	NCI-TCGA
LRP4	O75096	p.Phe76Val	rs769317290	missense variant	-	NC_000011.10:g.46900352A>C	ExAC,gnomAD
LRP4	O75096	p.His77Arg	rs780980400	missense variant	-	NC_000011.10:g.46900348T>C	ExAC,gnomAD
LRP4	O75096	p.Asp79Glu	rs547765113	missense variant	-	NC_000011.10:g.46900341G>C	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn80Asp	rs747313271	missense variant	-	NC_000011.10:g.46900340T>C	ExAC,gnomAD
LRP4	O75096	p.Cys83Phe	RCV000722908	missense variant	-	NC_000011.10:g.46900330C>A	ClinVar
LRP4	O75096	p.Arg85His	rs1011882566	missense variant	-	NC_000011.10:g.46900324C>T	gnomAD
LRP4	O75096	p.Arg85Cys	rs1219866663	missense variant	-	NC_000011.10:g.46900325G>A	TOPMed
LRP4	O75096	p.Arg85Cys	rs1219866663	missense variant	-	NC_000011.10:g.46900325G>A	NCI-TCGA
LRP4	O75096	p.Arg86His	rs138239756	missense variant	-	NC_000011.10:g.46900321C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg86Pro	rs138239756	missense variant	-	NC_000011.10:g.46900321C>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg86Leu	rs138239756	missense variant	-	NC_000011.10:g.46900321C>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg86Cys	rs1466848737	missense variant	-	NC_000011.10:g.46900322G>A	gnomAD
LRP4	O75096	p.Arg86His	RCV000643975	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46900321C>T	ClinVar
LRP4	O75096	p.Ser87Phe	rs376802865	missense variant	-	NC_000011.10:g.46900318G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly92Arg	rs754071316	missense variant	-	NC_000011.10:g.46900304C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp93Gly	rs1231831456	missense variant	-	NC_000011.10:g.46900300T>C	TOPMed
LRP4	O75096	p.Asp93Asn	rs1418475157	missense variant	-	NC_000011.10:g.46900301C>T	gnomAD
LRP4	O75096	p.Asn94Lys	rs17848224	missense variant	-	NC_000011.10:g.46900296G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn94Ile	rs759355938	missense variant	-	NC_000011.10:g.46900297T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn94Ser	rs759355938	missense variant	-	NC_000011.10:g.46900297T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp95Asn	rs1431228331	missense variant	-	NC_000011.10:g.46900295C>T	gnomAD
LRP4	O75096	p.Asp95Asn	rs1431228331	missense variant	-	NC_000011.10:g.46900295C>T	NCI-TCGA
LRP4	O75096	p.Glu97Ala	rs766174802	missense variant	-	NC_000011.10:g.46900288T>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu97Val	rs766174802	missense variant	-	NC_000011.10:g.46900288T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu97Val	rs766174802	missense variant	-	NC_000011.10:g.46900288T>A	NCI-TCGA Cosmic
LRP4	O75096	p.Ser100Leu	rs762837686	missense variant	-	NC_000011.10:g.46900279G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser100Leu	RCV000531555	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46900279G>A	ClinVar
LRP4	O75096	p.Asp101Asn	rs1350368496	missense variant	-	NC_000011.10:g.46900277C>T	TOPMed
LRP4	O75096	p.Glu102Lys	rs769246087	missense variant	-	NC_000011.10:g.46900274C>T	ExAC,gnomAD
LRP4	O75096	p.Gln103Glu	rs761350442	missense variant	-	NC_000011.10:g.46900271G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro106Ala	rs747402851	missense variant	-	NC_000011.10:g.46900262G>C	ExAC,gnomAD
LRP4	O75096	p.Pro106Leu	rs556889686	missense variant	-	NC_000011.10:g.46899976G>A	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Pro106Ser	rs747402851	missense variant	-	NC_000011.10:g.46900262G>A	ExAC,gnomAD
LRP4	O75096	p.Arg108Gln	rs772332690	missense variant	-	NC_000011.10:g.46899970C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg108Gly	rs775191643	missense variant	-	NC_000011.10:g.46899971G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg108Trp	rs775191643	missense variant	-	NC_000011.10:g.46899971G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg108ProPheSerTerUnk	rs35014453	frameshift	-	NC_000011.10:g.46899970_46899971insG	NCI-TCGA
LRP4	O75096	p.Cys110Ser	rs746174984	missense variant	-	NC_000011.10:g.46899965A>T	ExAC,gnomAD
LRP4	O75096	p.Glu111Lys	rs1292022846	missense variant	-	NC_000011.10:g.46899962C>T	TOPMed
LRP4	O75096	p.Glu112Lys	rs1171630290	missense variant	-	NC_000011.10:g.46899959C>T	gnomAD
LRP4	O75096	p.Glu114Lys	rs771377480	missense variant	-	NC_000011.10:g.46899953C>T	ExAC,gnomAD
LRP4	O75096	p.Glu114Lys	rs771377480	missense variant	-	NC_000011.10:g.46899953C>T	NCI-TCGA,NCI-TCGA Cosmic
LRP4	O75096	p.Gln118Arg	rs1239213317	missense variant	-	NC_000011.10:g.46899940T>C	TOPMed
LRP4	O75096	p.Asn119His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46899938T>G	NCI-TCGA
LRP4	O75096	p.Gly120Asp	rs749771283	missense variant	-	NC_000011.10:g.46899934C>T	ExAC,gnomAD
LRP4	O75096	p.Gly120Ser	COSM4922997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46899935C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Tyr121Ter	rs777870713	stop gained	-	NC_000011.10:g.46899930G>T	ExAC,gnomAD
LRP4	O75096	p.Arg124Gln	rs1268069891	missense variant	-	NC_000011.10:g.46899922C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg124Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46899922C>A	NCI-TCGA
LRP4	O75096	p.Ser125Arg	rs756180642	missense variant	-	NC_000011.10:g.46899918A>T	ExAC,gnomAD
LRP4	O75096	p.Asp130Asn	rs765113454	missense variant	-	NC_000011.10:g.46899905C>T	ExAC,gnomAD
LRP4	O75096	p.Gly131Ser	rs1323888185	missense variant	-	NC_000011.10:g.46899902C>T	gnomAD
LRP4	O75096	p.Asp132Gly	rs1406894880	missense variant	-	NC_000011.10:g.46899898T>C	gnomAD
LRP4	O75096	p.Asn133Asp	rs146894429	missense variant	-	NC_000011.10:g.46899896T>C	ESP,ExAC,gnomAD
LRP4	O75096	p.Asp134Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46899893C>A	NCI-TCGA
LRP4	O75096	p.Asp137Asn	rs267607222	missense variant	-	NC_000011.10:g.46899884C>T	TOPMed,gnomAD
LRP4	O75096	p.Asp137Asn	rs267607222	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46899884C>T	UniProt,dbSNP
LRP4	O75096	p.Asp137Asn	VAR_063776	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46899884C>T	UniProt
LRP4	O75096	p.Asp137Asn	rs267607222	missense variant	-	NC_000011.10:g.46899884C>T	NCI-TCGA
LRP4	O75096	p.Asp137Asn	RCV000006041	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46899884C>T	ClinVar
LRP4	O75096	p.Asp140Asn	rs781681900	missense variant	-	NC_000011.10:g.46899875C>T	ExAC,gnomAD
LRP4	O75096	p.Asp140Tyr	rs781681900	missense variant	-	NC_000011.10:g.46899875C>A	ExAC,gnomAD
LRP4	O75096	p.Asp140Gly	rs1490002157	missense variant	-	NC_000011.10:g.46899874T>C	gnomAD
LRP4	O75096	p.Asp140Asn	rs781681900	missense variant	-	NC_000011.10:g.46899875C>T	NCI-TCGA,NCI-TCGA Cosmic
LRP4	O75096	p.Glu141Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46899870C>A	NCI-TCGA
LRP4	O75096	p.Gln142Lys	rs1246644250	missense variant	-	NC_000011.10:g.46899869G>T	gnomAD
LRP4	O75096	p.Gln142Arg	rs1222707563	missense variant	-	NC_000011.10:g.46899868T>C	gnomAD
LRP4	O75096	p.Met145Thr	rs1406427577	missense variant	-	NC_000011.10:g.46899500A>G	gnomAD
LRP4	O75096	p.Arg146His	rs1178347520	missense variant	-	NC_000011.10:g.46899497C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg146Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46899498G>A	NCI-TCGA
LRP4	O75096	p.Ser149Phe	rs1239578585	missense variant	-	NC_000011.10:g.46899488G>A	gnomAD
LRP4	O75096	p.Asp150Asn	rs200746048	missense variant	-	NC_000011.10:g.46899486C>T	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Phe153Leu	rs1163449749	missense variant	-	NC_000011.10:g.46899477A>G	TOPMed
LRP4	O75096	p.Arg154Leu	rs748199837	missense variant	-	NC_000011.10:g.46899473C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg154His	rs748199837	missense variant	-	NC_000011.10:g.46899473C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg154Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46899474G>A	NCI-TCGA
LRP4	O75096	p.Ser156Gly	rs1285239491	missense variant	-	NC_000011.10:g.46899468T>C	gnomAD
LRP4	O75096	p.Gly158Arg	rs193247849	missense variant	-	NC_000011.10:g.46899462C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Cys160Tyr	rs267607221	missense variant	-	NC_000011.10:g.46899455C>T	ESP,TOPMed,gnomAD
LRP4	O75096	p.Cys160Tyr	rs267607221	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46899455C>T	UniProt,dbSNP
LRP4	O75096	p.Cys160Tyr	VAR_063777	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46899455C>T	UniProt
LRP4	O75096	p.Cys160Tyr	RCV000006044	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46899455C>T	ClinVar
LRP4	O75096	p.Ile161Phe	rs780414123	missense variant	-	NC_000011.10:g.46899453T>A	ExAC,gnomAD
LRP4	O75096	p.Glu163Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46899446T>C	NCI-TCGA
LRP4	O75096	p.Glu163Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46899447C>T	NCI-TCGA
LRP4	O75096	p.His164Pro	rs1303429562	missense variant	-	NC_000011.10:g.46899443T>G	TOPMed,gnomAD
LRP4	O75096	p.Tyr166Cys	rs202200592	missense variant	-	NC_000011.10:g.46899437T>C	TOPMed
LRP4	O75096	p.Tyr166Asn	rs897915373	missense variant	-	NC_000011.10:g.46899438A>T	TOPMed
LRP4	O75096	p.Gly169Asp	rs1420880652	missense variant	-	NC_000011.10:g.46899428C>T	gnomAD
LRP4	O75096	p.Gly169Ser	RCV000643977	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46899429C>T	ClinVar
LRP4	O75096	p.Gly169Ser	rs201585639	missense variant	-	NC_000011.10:g.46899429C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr171Ile	rs1382538434	missense variant	-	NC_000011.10:g.46899422G>A	TOPMed,gnomAD
LRP4	O75096	p.Asp172Asn	rs780819863	missense variant	-	NC_000011.10:g.46899420C>T	ExAC,gnomAD
LRP4	O75096	p.Asp172His	rs780819863	missense variant	-	NC_000011.10:g.46899420C>G	ExAC,gnomAD
LRP4	O75096	p.Asp172Asn	rs780819863	missense variant	-	NC_000011.10:g.46899420C>T	NCI-TCGA,NCI-TCGA Cosmic
LRP4	O75096	p.Gly176Ser	rs1185458127	missense variant	-	NC_000011.10:g.46899408C>T	gnomAD
LRP4	O75096	p.Ser177Tyr	RCV000723205	missense variant	-	NC_000011.10:g.46899404G>T	ClinVar
LRP4	O75096	p.Glu180Gly	rs201957426	missense variant	-	NC_000011.10:g.46899395T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu180Gln	rs763340602	missense variant	-	NC_000011.10:g.46899396C>G	ExAC,gnomAD
LRP4	O75096	p.Glu180Asp	COSM688005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46899394C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Glu180Gly	RCV000643983	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46899395T>C	ClinVar
LRP4	O75096	p.Asn181Asp	rs1208569811	missense variant	-	NC_000011.10:g.46899393T>C	gnomAD
LRP4	O75096	p.Pro183Ser	rs765567296	missense variant	-	NC_000011.10:g.46899387G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala185Val	rs764463798	missense variant	-	NC_000011.10:g.46899026G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Val186Gly	rs760856907	missense variant	-	NC_000011.10:g.46899023A>C	ExAC,gnomAD
LRP4	O75096	p.Pro187Ser	COSM927342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46899021G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Ala188Thr	rs1463730442	missense variant	-	NC_000011.10:g.46899018C>T	gnomAD
LRP4	O75096	p.Ala188Val	RCV000503043	missense variant	-	NC_000011.10:g.46899017G>A	ClinVar
LRP4	O75096	p.Ala188Val	rs772245536	missense variant	-	NC_000011.10:g.46899017G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro189Leu	rs1466750237	missense variant	-	NC_000011.10:g.46899014G>A	gnomAD
LRP4	O75096	p.Pro190Arg	rs774700154	missense variant	-	NC_000011.10:g.46899011G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro190His	rs774700154	missense variant	-	NC_000011.10:g.46899011G>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Cys191AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46899010G>-	NCI-TCGA
LRP4	O75096	p.Phe196Leu	rs1456559859	missense variant	-	NC_000011.10:g.46898992G>T	TOPMed,gnomAD
LRP4	O75096	p.Phe196Leu	rs1175337499	missense variant	-	NC_000011.10:g.46898994A>G	gnomAD
LRP4	O75096	p.Phe196Leu	rs1456559859	missense variant	-	NC_000011.10:g.46898992G>C	TOPMed,gnomAD
LRP4	O75096	p.Gln197Pro	rs147097280	missense variant	-	NC_000011.10:g.46898990T>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Tyr200Cys	rs1320138389	missense variant	-	NC_000011.10:g.46898981T>C	gnomAD
LRP4	O75096	p.Arg202Cys	rs768430616	missense variant	-	NC_000011.10:g.46898976G>A	ExAC,gnomAD
LRP4	O75096	p.Arg202His	rs149056824	missense variant	-	NC_000011.10:g.46898975C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp206Asn	rs745581446	missense variant	-	NC_000011.10:g.46898964C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp206His	rs745581446	missense variant	-	NC_000011.10:g.46898964C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile207Val	rs778376974	missense variant	-	NC_000011.10:g.46898961T>C	ExAC,gnomAD
LRP4	O75096	p.Asp211Asn	rs766051787	missense variant	-	NC_000011.10:g.46898949C>T	TOPMed
LRP4	O75096	p.Asp211His	COSM1475460	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46898949C>G	NCI-TCGA Cosmic
LRP4	O75096	p.Gly212Ser	rs373107969	missense variant	-	NC_000011.10:g.46898946C>T	ESP,TOPMed,gnomAD
LRP4	O75096	p.Asp213Asn	rs754099043	missense variant	-	NC_000011.10:g.46898943C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp214Tyr	rs371921930	missense variant	-	NC_000011.10:g.46898940C>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp214Asn	rs371921930	missense variant	-	NC_000011.10:g.46898940C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Trp219Arg	rs1398517108	missense variant	-	NC_000011.10:g.46898925A>G	TOPMed
LRP4	O75096	p.Asp224Ala	rs1254162449	missense variant	-	NC_000011.10:g.46898909T>G	gnomAD
LRP4	O75096	p.Ser227Pro	rs955884528	missense variant	-	NC_000011.10:g.46898675A>G	TOPMed
LRP4	O75096	p.His228Pro	rs1030106018	missense variant	-	NC_000011.10:g.46898671T>G	gnomAD
LRP4	O75096	p.Gln229Pro	rs1361092950	missense variant	-	NC_000011.10:g.46898668T>G	gnomAD
LRP4	O75096	p.Gln229His	rs1299747020	missense variant	-	NC_000011.10:g.46898667C>G	gnomAD
LRP4	O75096	p.Pro230Ala	rs773770584	missense variant	-	NC_000011.10:g.46898666G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg232Cys	rs770467186	missense variant	-	NC_000011.10:g.46898660G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg232Ser	rs770467186	missense variant	-	NC_000011.10:g.46898660G>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg232Pro	rs370407081	missense variant	-	NC_000011.10:g.46898659C>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg232Gly	rs770467186	missense variant	-	NC_000011.10:g.46898660G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg232His	rs370407081	missense variant	-	NC_000011.10:g.46898659C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly234Arg	rs1473275430	missense variant	-	NC_000011.10:g.46898654C>T	gnomAD
LRP4	O75096	p.Glu235Ter	COSM3809297	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46898651C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Glu235SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46898651C>-	NCI-TCGA
LRP4	O75096	p.Met237Leu	rs1050607778	missense variant	-	NC_000011.10:g.46898645T>G	TOPMed,gnomAD
LRP4	O75096	p.Met237Ile	rs778372112	missense variant	-	NC_000011.10:g.46898643C>G	gnomAD
LRP4	O75096	p.Cys238Tyr	rs770285774	missense variant	-	NC_000011.10:g.46898641C>T	ExAC,gnomAD
LRP4	O75096	p.Asp239Gly	rs1207619708	missense variant	-	NC_000011.10:g.46898638T>C	gnomAD
LRP4	O75096	p.Ser240Cys	COSM3986187	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46898636T>A	NCI-TCGA Cosmic
LRP4	O75096	p.Leu242Pro	COSM6068709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46898629A>G	NCI-TCGA Cosmic
LRP4	O75096	p.Asn245Ser	rs781770287	missense variant	-	NC_000011.10:g.46898620T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn245Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46898619A>C	NCI-TCGA
LRP4	O75096	p.Asn245Ser	RCV000387619	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46898620T>C	ClinVar
LRP4	O75096	p.Ala246Ser	rs1391520154	missense variant	-	NC_000011.10:g.46898618C>A	TOPMed
LRP4	O75096	p.Arg249Cys	rs752076926	missense variant	-	NC_000011.10:g.46898609G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg249His	rs780066978	missense variant	-	NC_000011.10:g.46898608C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp251Asn	rs769206514	missense variant	-	NC_000011.10:g.46898603C>T	ExAC,gnomAD
LRP4	O75096	p.Asp253Ala	rs765380836	missense variant	-	NC_000011.10:g.46898596T>G	ExAC,gnomAD
LRP4	O75096	p.Ala254Thr	rs752533443	missense variant	-	NC_000011.10:g.46898594C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala254Val	rs767281769	missense variant	-	NC_000011.10:g.46898593G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp257His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46898585C>G	NCI-TCGA
LRP4	O75096	p.Asp258Ala	rs1168552978	missense variant	-	NC_000011.10:g.46898581T>G	gnomAD
LRP4	O75096	p.Asp261Ala	rs770353955	missense variant	-	NC_000011.10:g.46898572T>G	ExAC,gnomAD
LRP4	O75096	p.Arg263His	rs149906323	missense variant	-	NC_000011.10:g.46898566C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg263Leu	rs149906323	missense variant	-	NC_000011.10:g.46898566C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg263Cys	rs762468727	missense variant	-	NC_000011.10:g.46898567G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr266Ile	rs1207423014	missense variant	-	NC_000011.10:g.46896994G>A	gnomAD
LRP4	O75096	p.Thr267Ile	COSM1354023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896991G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Met269Val	rs761614096	missense variant	-	NC_000011.10:g.46896986T>C	ExAC,gnomAD
LRP4	O75096	p.Met269Thr	rs776417067	missense variant	-	NC_000011.10:g.46896985A>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr271Met	rs768904639	missense variant	-	NC_000011.10:g.46896979G>A	ExAC,gnomAD
LRP4	O75096	p.Ala272Val	rs1431761298	missense variant	-	NC_000011.10:g.46896976G>A	TOPMed
LRP4	O75096	p.Ala272Thr	COSM4033116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896977C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Glu273Asp	rs1174698885	missense variant	-	NC_000011.10:g.46896972T>A	gnomAD
LRP4	O75096	p.Gln274Glu	rs372468767	missense variant	-	NC_000011.10:g.46896971G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Phe275Leu	rs772586265	missense variant	-	NC_000011.10:g.46896966G>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg276Ser	rs557300271	missense variant	-	NC_000011.10:g.46896965G>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg276Cys	rs557300271	missense variant	-	NC_000011.10:g.46896965G>A	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser279Leu	rs1437177529	missense variant	-	NC_000011.10:g.46896955G>A	gnomAD
LRP4	O75096	p.Ser279Ala	rs1335407378	missense variant	-	NC_000011.10:g.46896956A>C	gnomAD
LRP4	O75096	p.Gly280Val	rs972057872	missense variant	-	NC_000011.10:g.46896952C>A	gnomAD
LRP4	O75096	p.Gly280Arg	rs1296972146	missense variant	-	NC_000011.10:g.46896953C>G	TOPMed
LRP4	O75096	p.Arg281Cys	rs1158489710	missense variant	-	NC_000011.10:g.46896950G>A	gnomAD
LRP4	O75096	p.Arg281His	rs146670859	missense variant	-	NC_000011.10:g.46896949C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg281Leu	rs146670859	missense variant	-	NC_000011.10:g.46896949C>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg281Leu	RCV000309038	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896949C>A	ClinVar
LRP4	O75096	p.Cys282Tyr	rs1409728660	missense variant	-	NC_000011.10:g.46896946C>T	gnomAD
LRP4	O75096	p.Val283Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46896944C>T	NCI-TCGA
LRP4	O75096	p.Arg284His	rs369307795	missense variant	-	NC_000011.10:g.46896940C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg284Leu	rs369307795	missense variant	-	NC_000011.10:g.46896940C>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg284Cys	rs777995529	missense variant	-	NC_000011.10:g.46896941G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Trp287Ser	rs750372656	missense variant	-	NC_000011.10:g.46896931C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg288Cys	rs982467887	missense variant	-	NC_000011.10:g.46896929G>A	TOPMed,gnomAD
LRP4	O75096	p.Arg288Ser	rs982467887	missense variant	-	NC_000011.10:g.46896929G>T	TOPMed,gnomAD
LRP4	O75096	p.Arg288His	rs1285042004	missense variant	-	NC_000011.10:g.46896928C>T	TOPMed,gnomAD
LRP4	O75096	p.Gly291Arg	COSM3447729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896920C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Asp293Asn	rs1202115438	missense variant	-	NC_000011.10:g.46896914C>T	TOPMed
LRP4	O75096	p.Asp294Asn	rs761338061	missense variant	-	NC_000011.10:g.46896911C>T	ExAC,gnomAD
LRP4	O75096	p.Asn298Tyr	rs1232243402	missense variant	-	NC_000011.10:g.46896899T>A	TOPMed
LRP4	O75096	p.Asn303Lys	rs373551790	missense variant	-	NC_000011.10:g.46896882G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn306Ser	COSM6132720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896874T>C	NCI-TCGA Cosmic
LRP4	O75096	p.Thr307Arg	rs1271205297	missense variant	-	NC_000011.10:g.46896871G>C	TOPMed
LRP4	O75096	p.Gly308Glu	rs1269020664	missense variant	-	NC_000011.10:g.46896335C>T	TOPMed
LRP4	O75096	p.Pro310His	rs1344052338	missense variant	-	NC_000011.10:g.46896329G>T	gnomAD
LRP4	O75096	p.Gln311His	rs375108263	missense variant	-	NC_000011.10:g.46896325T>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala313Val	rs1428090167	missense variant	-	NC_000011.10:g.46896320G>A	TOPMed
LRP4	O75096	p.Leu314Ser	RCV000362404	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896317A>G	ClinVar
LRP4	O75096	p.Leu314Phe	rs771389583	missense variant	-	NC_000011.10:g.46896316C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu314Ser	rs7926667	missense variant	-	NC_000011.10:g.46896317A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp315His	rs1264995174	missense variant	-	NC_000011.10:g.46896315C>G	gnomAD
LRP4	O75096	p.Gln316His	rs1190411614	missense variant	-	NC_000011.10:g.46896310C>G	gnomAD
LRP4	O75096	p.Leu318Pro	rs763419849	missense variant	-	NC_000011.10:g.46896305A>G	ExAC,gnomAD
LRP4	O75096	p.Cys319Tyr	RCV000310332	missense variant	-	NC_000011.10:g.46896302C>T	ClinVar
LRP4	O75096	p.Cys319Tyr	rs769749835	missense variant	-	NC_000011.10:g.46896302C>T	ExAC,gnomAD
LRP4	O75096	p.Trp320Arg	rs748468539	missense variant	-	NC_000011.10:g.46896300A>T	ExAC,gnomAD
LRP4	O75096	p.Asn321Lys	rs1257559745	missense variant	-	NC_000011.10:g.46896295A>T	gnomAD
LRP4	O75096	p.Gly322Arg	COSM4876682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896294C>G	NCI-TCGA Cosmic
LRP4	O75096	p.Gly322Arg	rs1228779891	missense variant	-	NC_000011.10:g.46896294C>T	gnomAD
LRP4	O75096	p.Arg323His	RCV000307983	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896290C>T	ClinVar
LRP4	O75096	p.Arg323His	rs745607286	missense variant	-	NC_000011.10:g.46896290C>T	ExAC,gnomAD
LRP4	O75096	p.Arg323His	RCV000806077	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896290C>T	ClinVar
LRP4	O75096	p.Arg323Ser	rs772004553	missense variant	-	NC_000011.10:g.46896291G>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg323Cys	rs772004553	missense variant	-	NC_000011.10:g.46896291G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile325Thr	rs753709386	missense variant	-	NC_000011.10:g.46896284A>G	ExAC,gnomAD
LRP4	O75096	p.Ile325Val	rs757296376	missense variant	-	NC_000011.10:g.46896285T>C	ExAC,gnomAD
LRP4	O75096	p.Gly326Trp	rs1346305519	missense variant	-	NC_000011.10:g.46896282C>A	TOPMed
LRP4	O75096	p.Gly333Val	rs1168058061	missense variant	-	NC_000011.10:g.46896260C>A	TOPMed,gnomAD
LRP4	O75096	p.Gly333Arg	RCV000180583	missense variant	-	NC_000011.10:g.46896261C>T	ClinVar
LRP4	O75096	p.Gly333Arg	RCV000528344	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896261C>T	ClinVar
LRP4	O75096	p.Gly333Ala	rs1168058061	missense variant	-	NC_000011.10:g.46896260C>G	TOPMed,gnomAD
LRP4	O75096	p.Gly333Arg	rs61744209	missense variant	-	NC_000011.10:g.46896261C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Val334Gly	RCV000643979	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46896257A>C	ClinVar
LRP4	O75096	p.Val334Ile	rs752410125	missense variant	-	NC_000011.10:g.46896258C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Val334Gly	rs767110056	missense variant	-	NC_000011.10:g.46896257A>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp336Asn	rs766707622	missense variant	-	NC_000011.10:g.46896252C>T	ExAC,gnomAD
LRP4	O75096	p.Asp336Glu	rs1195710420	missense variant	-	NC_000011.10:g.46896250G>T	gnomAD
LRP4	O75096	p.Ser341Ile	COSM4877152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46896236C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Asp342Asn	rs773586709	missense variant	-	NC_000011.10:g.46896234C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro345Thr	rs1233205385	missense variant	-	NC_000011.10:g.46896225G>T	gnomAD
LRP4	O75096	p.Gln347Leu	rs776932431	missense variant	-	NC_000011.10:g.46896218T>A	ExAC,gnomAD
LRP4	O75096	p.Gln347His	rs768956508	missense variant	-	NC_000011.10:g.46896217C>A	ExAC,gnomAD
LRP4	O75096	p.Arg350Trp	rs368744612	missense variant	-	NC_000011.10:g.46896210G>A	ExAC,gnomAD
LRP4	O75096	p.Pro351Ser	rs770865989	missense variant	-	NC_000011.10:g.46896016G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg352Gln	rs773234882	missense variant	-	NC_000011.10:g.46896012C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg352Trp	rs148456240	missense variant	-	NC_000011.10:g.46896013G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr353Met	rs769661653	missense variant	-	NC_000011.10:g.46896009G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly354Ser	rs780738790	missense variant	-	NC_000011.10:g.46896007C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu355Lys	rs1446754894	missense variant	-	NC_000011.10:g.46896004C>T	gnomAD
LRP4	O75096	p.Glu355Gly	rs754480153	missense variant	-	NC_000011.10:g.46896003T>C	ExAC,gnomAD
LRP4	O75096	p.Glu356Lys	rs746669931	missense variant	-	NC_000011.10:g.46896001C>T	ExAC,gnomAD
LRP4	O75096	p.Asn357Lys	rs1264284305	missense variant	-	NC_000011.10:g.46895996G>C	gnomAD
LRP4	O75096	p.Cys358Phe	rs1233386437	missense variant	-	NC_000011.10:g.46895994C>A	TOPMed,gnomAD
LRP4	O75096	p.Val360Ile	rs1258590960	missense variant	-	NC_000011.10:g.46895989C>T	TOPMed
LRP4	O75096	p.Gly363Ser	rs765602909	missense variant	-	NC_000011.10:g.46895980C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gln367His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46895966C>A	NCI-TCGA
LRP4	O75096	p.Gln370His	rs757748871	missense variant	-	NC_000011.10:g.46895957C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met371Thr	rs1164240481	missense variant	-	NC_000011.10:g.46895955A>G	gnomAD
LRP4	O75096	p.Met371Val	rs754379700	missense variant	-	NC_000011.10:g.46895956T>C	ExAC,gnomAD
LRP4	O75096	p.Arg373Pro	rs760783389	missense variant	-	NC_000011.10:g.46895949C>G	ExAC,gnomAD
LRP4	O75096	p.Arg373Trp	RCV000532575	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46895950G>A	ClinVar
LRP4	O75096	p.Arg373Gln	rs760783389	missense variant	-	NC_000011.10:g.46895949C>T	ExAC,gnomAD
LRP4	O75096	p.Arg373Trp	rs118009068	missense variant	-	NC_000011.10:g.46895950G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala375Thr	rs1006276270	missense variant	-	NC_000011.10:g.46895944C>T	TOPMed,gnomAD
LRP4	O75096	p.Ala375GlyPheSerTerUnkUnk	rs777522999	frameshift	-	NC_000011.10:g.46895943_46895944insC	NCI-TCGA,NCI-TCGA Cosmic
LRP4	O75096	p.Val376Met	rs1243051904	missense variant	-	NC_000011.10:g.46895941C>T	gnomAD
LRP4	O75096	p.Val376Met	RCV000543335	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46895941C>T	ClinVar
LRP4	O75096	p.Gln377Arg	rs139006210	missense variant	-	NC_000011.10:g.46895937T>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gln377Arg	RCV000643978	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46895937T>C	ClinVar
LRP4	O75096	p.Thr379Pro	rs377751594	missense variant	-	NC_000011.10:g.46895932T>G	ExAC,gnomAD
LRP4	O75096	p.His381Tyr	rs1336266220	missense variant	-	NC_000011.10:g.46895926G>A	gnomAD
LRP4	O75096	p.Arg385Gln	rs772931812	missense variant	-	NC_000011.10:g.46895913C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg385Trp	rs200623154	missense variant	-	NC_000011.10:g.46895914G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu386Phe	rs1408844681	missense variant	-	NC_000011.10:g.46895911G>A	TOPMed
LRP4	O75096	p.Asp389Asn	rs1325437129	missense variant	-	NC_000011.10:g.46895902C>T	gnomAD
LRP4	O75096	p.Asp389Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46895901T>A	NCI-TCGA
LRP4	O75096	p.Gly390Glu	rs1396772380	missense variant	-	NC_000011.10:g.46895898C>T	gnomAD
LRP4	O75096	p.Gly390Trp	rs1441982549	missense variant	-	NC_000011.10:g.46895899C>A	gnomAD
LRP4	O75096	p.Thr392Met	rs776484311	missense variant	-	NC_000011.10:g.46895892G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu401Lys	rs939714045	missense variant	-	NC_000011.10:g.46895274C>T	TOPMed,gnomAD
LRP4	O75096	p.Glu401Gln	rs939714045	missense variant	-	NC_000011.10:g.46895274C>G	TOPMed,gnomAD
LRP4	O75096	p.Glu402Asp	rs1437003440	missense variant	-	NC_000011.10:g.46895269C>G	gnomAD
LRP4	O75096	p.Gly403Arg	rs1465167714	missense variant	-	NC_000011.10:g.46895268C>T	gnomAD
LRP4	O75096	p.Tyr404Cys	rs1157887056	missense variant	-	NC_000011.10:g.46895264T>C	gnomAD
LRP4	O75096	p.Gly408Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46895253C>A	NCI-TCGA
LRP4	O75096	p.Thr410Ile	rs185187069	missense variant	-	NC_000011.10:g.46895246G>A	1000Genomes
LRP4	O75096	p.Asn411Ser	rs766573861	missense variant	-	NC_000011.10:g.46895243T>C	ExAC,gnomAD
LRP4	O75096	p.Asn411Lys	rs1409525735	missense variant	-	NC_000011.10:g.46895242G>T	TOPMed,gnomAD
LRP4	O75096	p.Ser412Thr	rs1267192034	missense variant	-	NC_000011.10:g.46895240C>G	TOPMed,gnomAD
LRP4	O75096	p.Glu413Lys	rs893448826	missense variant	-	NC_000011.10:g.46895238C>T	TOPMed,gnomAD
LRP4	O75096	p.Glu413Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.46895238C>A	NCI-TCGA
LRP4	O75096	p.Cys418Trp	rs763852378	missense variant	-	NC_000011.10:g.46895221G>C	ExAC,gnomAD
LRP4	O75096	p.Trp419Ter	rs147087497	stop gained	-	NC_000011.10:g.46895218C>T	ESP,ExAC,gnomAD
LRP4	O75096	p.Trp419Ser	rs760661741	missense variant	-	NC_000011.10:g.46895219C>G	ExAC,gnomAD
LRP4	O75096	p.Trp419Gly	rs1032020389	missense variant	-	NC_000011.10:g.46895220A>C	TOPMed
LRP4	O75096	p.Trp419Gly	RCV000643980	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46895220A>C	ClinVar
LRP4	O75096	p.Tyr424Cys	rs1386014748	missense variant	-	NC_000011.10:g.46895204T>C	TOPMed
LRP4	O75096	p.Leu426Ile	rs759041553	missense variant	-	NC_000011.10:g.46895199G>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg427Gln	rs569764064	missense variant	-	NC_000011.10:g.46895195C>T	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Arg427Trp	rs770749728	missense variant	-	NC_000011.10:g.46895196G>A	ExAC,gnomAD
LRP4	O75096	p.Asp429Asn	rs770279192	missense variant	-	NC_000011.10:g.46895190C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg430Gly	rs140528156	missense variant	-	NC_000011.10:g.46895187G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg430Trp	rs140528156	missense variant	-	NC_000011.10:g.46895187G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg430Gln	rs370208609	missense variant	-	NC_000011.10:g.46895186C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg431His	rs779964945	missense variant	-	NC_000011.10:g.46895183C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg431Cys	rs747068883	missense variant	-	NC_000011.10:g.46895184G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser432Gly	rs1460497631	missense variant	-	NC_000011.10:g.46895181T>C	gnomAD
LRP4	O75096	p.Leu436Arg	rs1272131896	missense variant	-	NC_000011.10:g.46895168A>C	gnomAD
LRP4	O75096	p.Gly437Glu	rs762496709	missense variant	-	NC_000011.10:g.46894819C>T	ExAC,gnomAD
LRP4	O75096	p.Glu439Asp	rs1172787276	missense variant	-	NC_000011.10:g.46894812C>A	gnomAD
LRP4	O75096	p.Pro440Ser	rs1453946399	missense variant	-	NC_000011.10:g.46894811G>A	gnomAD
LRP4	O75096	p.Leu443Pro	rs773019506	missense variant	-	NC_000011.10:g.46894801A>G	ExAC,gnomAD
LRP4	O75096	p.Phe444Leu	rs764941077	missense variant	-	NC_000011.10:g.46894797G>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Phe444Leu	rs764941077	missense variant	-	NC_000011.10:g.46894797G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala445Thr	rs1023257694	missense variant	-	NC_000011.10:g.46894796C>T	gnomAD
LRP4	O75096	p.Arg447Pro	rs1249971737	missense variant	-	NC_000011.10:g.46894789C>G	gnomAD
LRP4	O75096	p.Arg447His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46894789C>T	NCI-TCGA
LRP4	O75096	p.Arg447Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46894790G>A	NCI-TCGA
LRP4	O75096	p.Ile448Val	rs761341366	missense variant	-	NC_000011.10:g.46894787T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp449Asn	RCV000006045	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894784C>T	ClinVar
LRP4	O75096	p.Asp449Asn	rs267607224	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46894784C>T	UniProt,dbSNP
LRP4	O75096	p.Asp449Asn	VAR_063778	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46894784C>T	UniProt
LRP4	O75096	p.Asp449Asn	rs267607224	missense variant	-	NC_000011.10:g.46894784C>T	TOPMed
LRP4	O75096	p.Arg451Gln	rs556043090	missense variant	-	NC_000011.10:g.46894777C>T	1000Genomes,TOPMed,gnomAD
LRP4	O75096	p.Arg451Trp	rs772150136	missense variant	-	NC_000011.10:g.46894778G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg451Gly	rs772150136	missense variant	-	NC_000011.10:g.46894778G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro455Leu	rs1186383603	missense variant	-	NC_000011.10:g.46894765G>A	TOPMed,gnomAD
LRP4	O75096	p.His456Tyr	rs1555174047	missense variant	-	NC_000011.10:g.46894763G>A	-
LRP4	O75096	p.His456Tyr	RCV000643974	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894763G>A	ClinVar
LRP4	O75096	p.Arg457Gly	rs148856658	missense variant	-	NC_000011.10:g.46894760G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg457His	rs749461745	missense variant	-	NC_000011.10:g.46894759C>T	ExAC,gnomAD
LRP4	O75096	p.Arg457Cys	rs148856658	missense variant	-	NC_000011.10:g.46894760G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Tyr460Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46894750T>C	NCI-TCGA
LRP4	O75096	p.Thr461Ala	rs267607223	missense variant	-	NC_000011.10:g.46894748T>C	gnomAD
LRP4	O75096	p.Thr461Pro	rs267607223	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46894748T>G	UniProt,dbSNP
LRP4	O75096	p.Thr461Pro	VAR_063779	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46894748T>G	UniProt
LRP4	O75096	p.Thr461Pro	rs267607223	missense variant	-	NC_000011.10:g.46894748T>G	gnomAD
LRP4	O75096	p.Thr461Arg	rs754663116	missense variant	-	NC_000011.10:g.46894747G>C	ExAC
LRP4	O75096	p.Thr461Pro	RCV000006046	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894748T>G	ClinVar
LRP4	O75096	p.Asn469Ser	COSM6132721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46894723T>C	NCI-TCGA Cosmic
LRP4	O75096	p.Leu473Phe	VAR_063780	Missense	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]	-	UniProt
LRP4	O75096	p.Phe475Ser	rs78312938	missense variant	-	NC_000011.10:g.46894705A>G	ExAC,gnomAD
LRP4	O75096	p.His476Pro	rs183638093	missense variant	-	NC_000011.10:g.46894702T>G	ExAC,gnomAD
LRP4	O75096	p.His477Pro	rs191224670	missense variant	-	NC_000011.10:g.46894699T>G	ExAC,gnomAD
LRP4	O75096	p.His477Tyr	COSM1298081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46894700G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Arg478His	rs1349507715	missense variant	-	NC_000011.10:g.46894696C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg478Cys	rs146660159	missense variant	-	NC_000011.10:g.46894697G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg479His	rs764520299	missense variant	-	NC_000011.10:g.46894693C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg479Cys	RCV000643982	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894694G>A	ClinVar
LRP4	O75096	p.Arg479Cys	RCV000395910	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894694G>A	ClinVar
LRP4	O75096	p.Arg479Cys	rs143207358	missense variant	-	NC_000011.10:g.46894694G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu480Gln	rs201502598	missense variant	-	NC_000011.10:g.46894691C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu480LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46894685_46894692CAAGCTCG>-	NCI-TCGA
LRP4	O75096	p.Phe483Leu	rs556226743	missense variant	-	NC_000011.10:g.46894682A>G	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Arg491Trp	rs774475696	missense variant	-	NC_000011.10:g.46894658G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg491Gln	rs774924956	missense variant	-	NC_000011.10:g.46894657C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile492Val	rs1221065508	missense variant	-	NC_000011.10:g.46894655T>C	TOPMed
LRP4	O75096	p.Leu493Phe	rs1249104943	missense variant	-	NC_000011.10:g.46894652G>A	TOPMed
LRP4	O75096	p.Arg494His	rs777801967	missense variant	-	NC_000011.10:g.46894648C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg494Cys	RCV000337204	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894649G>A	ClinVar
LRP4	O75096	p.Arg494Cys	rs749530671	missense variant	-	NC_000011.10:g.46894649G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg494His	RCV000521589	missense variant	-	NC_000011.10:g.46894648C>T	ClinVar
LRP4	O75096	p.Asn496Ser	rs746759136	missense variant	-	NC_000011.10:g.46894642T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn496Thr	rs746759136	missense variant	-	NC_000011.10:g.46894642T>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn496Ile	rs746759136	missense variant	-	NC_000011.10:g.46894642T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn496Lys	rs779961860	missense variant	-	NC_000011.10:g.46894641G>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu497Arg	rs1347613812	missense variant	-	NC_000011.10:g.46894639A>C	TOPMed,gnomAD
LRP4	O75096	p.Asn498His	rs750371073	missense variant	-	NC_000011.10:g.46894637T>G	ExAC,gnomAD
LRP4	O75096	p.Asn498Lys	rs61749083	missense variant	-	NC_000011.10:g.46894635G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly499Ser	rs756651374	missense variant	-	NC_000011.10:g.46894634C>T	ExAC,gnomAD
LRP4	O75096	p.Gly499Asp	COSM1354019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46894633C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Ser500Asn	rs753538736	missense variant	-	NC_000011.10:g.46894630C>T	ExAC,gnomAD
LRP4	O75096	p.Ser500Gly	rs1390639039	missense variant	-	NC_000011.10:g.46894631T>C	TOPMed
LRP4	O75096	p.Asn501His	rs72897663	missense variant	-	NC_000011.10:g.46894628T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn501His	RCV000282284	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46894628T>G	ClinVar
LRP4	O75096	p.Val502Met	rs1166525077	missense variant	-	NC_000011.10:g.46894625C>T	TOPMed,gnomAD
LRP4	O75096	p.Glu504Lys	rs760105990	missense variant	-	NC_000011.10:g.46894619C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Val506Leu	rs1286064806	missense variant	-	NC_000011.10:g.46894613C>G	TOPMed
LRP4	O75096	p.Thr508Ala	rs527611037	missense variant	-	NC_000011.10:g.46894607T>C	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu511Ala	rs568013477	missense variant	-	NC_000011.10:g.46894597T>G	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Glu511Gln	rs371940440	missense variant	-	NC_000011.10:g.46894598C>G	ESP,ExAC,gnomAD
LRP4	O75096	p.Glu511Asp	COSM688006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46894596C>G	NCI-TCGA Cosmic
LRP4	O75096	p.Ser512Asn	rs769948678	missense variant	-	NC_000011.10:g.46894594C>T	ExAC,gnomAD
LRP4	O75096	p.Ser512Cys	rs773515672	missense variant	-	NC_000011.10:g.46894595T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro513Arg	rs748357296	missense variant	-	NC_000011.10:g.46894591G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala517Thr	rs1230695680	missense variant	-	NC_000011.10:g.46893121C>T	gnomAD
LRP4	O75096	p.Trp520Cys	rs1479002757	missense variant	-	NC_000011.10:g.46893110C>G	TOPMed
LRP4	O75096	p.Trp527Cys	rs375392182	missense variant	-	NC_000011.10:g.46893089C>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Trp527Ter	COSM4902860	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46893090C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Thr528Ser	rs1434121673	missense variant	-	NC_000011.10:g.46893087G>C	TOPMed
LRP4	O75096	p.Asp529Asn	rs267607220	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46893085C>T	UniProt,dbSNP
LRP4	O75096	p.Asp529Asn	VAR_063781	missense variant	Cenani-Lenz syndactyly syndrome (CLSS)	NC_000011.10:g.46893085C>T	UniProt
LRP4	O75096	p.Asp529Asn	rs267607220	missense variant	-	NC_000011.10:g.46893085C>T	-
LRP4	O75096	p.Asp529Asn	RCV000006040	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46893085C>T	ClinVar
LRP4	O75096	p.Ser530Leu	COSM1298080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46893081G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Ser533Leu	rs755862754	missense variant	-	NC_000011.10:g.46893072G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg534Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46893069C>A	NCI-TCGA
LRP4	O75096	p.Glu536Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46893064C>G	NCI-TCGA
LRP4	O75096	p.Val537Met	rs770825953	missense variant	-	NC_000011.10:g.46893061C>T	ExAC,gnomAD
LRP4	O75096	p.Ala538Val	rs749239308	missense variant	-	NC_000011.10:g.46893057G>A	ExAC,gnomAD
LRP4	O75096	p.Leu540Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46893052G>T	NCI-TCGA
LRP4	O75096	p.Asp541Val	rs777219630	missense variant	-	NC_000011.10:g.46893048T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg545Trp	rs371763360	missense variant	-	NC_000011.10:g.46893037G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg545Leu	rs1415827753	missense variant	-	NC_000011.10:g.46893036C>A	gnomAD
LRP4	O75096	p.Lys546Arg	rs1313161330	missense variant	-	NC_000011.10:g.46893033T>C	TOPMed,gnomAD
LRP4	O75096	p.Val547Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46893031C>T	NCI-TCGA
LRP4	O75096	p.Leu548Phe	rs1337100286	missense variant	-	NC_000011.10:g.46893026C>G	TOPMed
LRP4	O75096	p.Gln551Ter	rs1253940941	stop gained	-	NC_000011.10:g.46893019G>A	gnomAD
LRP4	O75096	p.Asn552Tyr	rs201253200	missense variant	-	NC_000011.10:g.46893016T>A	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Leu553Val	rs751911145	missense variant	-	NC_000011.10:g.46893013G>C	ExAC,gnomAD
LRP4	O75096	p.Arg557Trp	rs758885238	missense variant	-	NC_000011.10:g.46893001G>A	ExAC,gnomAD
LRP4	O75096	p.Arg557Gln	rs750935748	missense variant	-	NC_000011.10:g.46893000C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg557Leu	COSM3415886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46893000C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Ile559Val	rs765412419	missense variant	-	NC_000011.10:g.46892995T>C	ExAC,gnomAD
LRP4	O75096	p.Ala560Val	COSM6068711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46892991G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Pro563Leu	rs1309368502	missense variant	-	NC_000011.10:g.46892982G>A	gnomAD
LRP4	O75096	p.Met564Val	rs761922378	missense variant	-	NC_000011.10:g.46892980T>C	ExAC,gnomAD
LRP4	O75096	p.Met564Thr	rs754559385	missense variant	-	NC_000011.10:g.46892979A>G	TOPMed,gnomAD
LRP4	O75096	p.Glu565Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46892977C>T	NCI-TCGA
LRP4	O75096	p.Gly566Ala	rs774074917	missense variant	-	NC_000011.10:g.46892973C>G	ExAC,gnomAD
LRP4	O75096	p.Gly566Asp	rs774074917	missense variant	-	NC_000011.10:g.46892973C>T	ExAC,gnomAD
LRP4	O75096	p.Gly566Val	rs774074917	missense variant	-	NC_000011.10:g.46892973C>A	ExAC,gnomAD
LRP4	O75096	p.Thr567Ile	rs143885233	missense variant	-	NC_000011.10:g.46890492G>A	ESP,TOPMed,gnomAD
LRP4	O75096	p.Tyr569Ser	COSM275906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890486T>G	NCI-TCGA Cosmic
LRP4	O75096	p.Trp570Ter	rs1418548616	stop gained	-	NC_000011.10:g.46890483C>T	gnomAD
LRP4	O75096	p.Asp572ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46890466_46890478TGTTGCCCCAGTC>-	NCI-TCGA
LRP4	O75096	p.Gly574Ser	COSM4912946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890472C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Thr576Ser	rs986525405	missense variant	-	NC_000011.10:g.46890465G>C	TOPMed
LRP4	O75096	p.Pro577Ser	COSM3447725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890463G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Pro577Leu	COSM4033113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890462G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Arg578Cys	rs1249967861	missense variant	-	NC_000011.10:g.46890460G>A	gnomAD
LRP4	O75096	p.Arg578Ser	rs1249967861	missense variant	-	NC_000011.10:g.46890460G>T	gnomAD
LRP4	O75096	p.Arg578His	rs138301752	missense variant	-	NC_000011.10:g.46890459C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg578ValPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46890460G>-	NCI-TCGA
LRP4	O75096	p.Glu580Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46890453T>C	NCI-TCGA
LRP4	O75096	p.Ala581Asp	rs1478658144	missense variant	-	NC_000011.10:g.46890450G>T	TOPMed
LRP4	O75096	p.Ser583Asn	rs761718538	missense variant	-	NC_000011.10:g.46890444C>T	ExAC,gnomAD
LRP4	O75096	p.Ser583Gly	rs1266509095	missense variant	-	NC_000011.10:g.46890445T>C	gnomAD
LRP4	O75096	p.Gly586Asp	rs1306069334	missense variant	-	NC_000011.10:g.46890435C>T	gnomAD
LRP4	O75096	p.Arg589His	rs746644343	missense variant	-	NC_000011.10:g.46890426C>T	ExAC,gnomAD
LRP4	O75096	p.Arg589Cys	rs768149014	missense variant	-	NC_000011.10:g.46890427G>A	ExAC,gnomAD
LRP4	O75096	p.Arg590Cys	rs144819885	missense variant	-	NC_000011.10:g.46890424G>A	ESP,gnomAD
LRP4	O75096	p.Arg590His	rs149435615	missense variant	-	NC_000011.10:g.46890423C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg590His	RCV000385597	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890423C>T	ClinVar
LRP4	O75096	p.Arg590His	RCV000699181	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890423C>T	ClinVar
LRP4	O75096	p.Ile591Val	rs772341020	missense variant	-	NC_000011.10:g.46890421T>C	ExAC,TOPMed
LRP4	O75096	p.Ile591Leu	rs772341020	missense variant	-	NC_000011.10:g.46890421T>G	ExAC,TOPMed
LRP4	O75096	p.Asp594Asn	rs779387728	missense variant	-	NC_000011.10:g.46890412C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.His596Arg	rs138878258	missense variant	-	NC_000011.10:g.46890405T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.His596Arg	RCV000306777	missense variant	-	NC_000011.10:g.46890405T>C	ClinVar
LRP4	O75096	p.His596Arg	RCV000549519	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890405T>C	ClinVar
LRP4	O75096	p.Leu597Val	rs1430623427	missense variant	-	NC_000011.10:g.46890403G>C	gnomAD
LRP4	O75096	p.Phe598Ile	rs778007418	missense variant	-	NC_000011.10:g.46890400A>T	ExAC,gnomAD
LRP4	O75096	p.Phe598Leu	rs752889847	missense variant	-	NC_000011.10:g.46890398G>T	ExAC,gnomAD
LRP4	O75096	p.Pro600Thr	rs767738892	missense variant	-	NC_000011.10:g.46890394G>T	ExAC,gnomAD
LRP4	O75096	p.Pro600Leu	rs755126115	missense variant	-	NC_000011.10:g.46890393G>A	ExAC,gnomAD
LRP4	O75096	p.Asn601Ser	rs1251093617	missense variant	-	NC_000011.10:g.46890390T>C	gnomAD
LRP4	O75096	p.Ile605Val	rs575688727	missense variant	-	NC_000011.10:g.46890379T>C	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Asp606Asn	rs763525477	missense variant	-	NC_000011.10:g.46890376C>T	ExAC,gnomAD
LRP4	O75096	p.Gly609Arg	rs1389594811	missense variant	-	NC_000011.10:g.46890367C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg610His	rs17848218	missense variant	-	NC_000011.10:g.46890363C>T	TOPMed
LRP4	O75096	p.Arg610Cys	rs150253578	missense variant	-	NC_000011.10:g.46890364G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg610Cys	RCV000527762	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890364G>A	ClinVar
LRP4	O75096	p.Arg611His	rs140282454	missense variant	-	NC_000011.10:g.46890360C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg611Cys	rs771793515	missense variant	-	NC_000011.10:g.46890361G>A	ExAC,gnomAD
LRP4	O75096	p.Asp616Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46890346C>T	NCI-TCGA
LRP4	O75096	p.His620Asn	rs1465734620	missense variant	-	NC_000011.10:g.46890334G>T	gnomAD
LRP4	O75096	p.Ile622Val	rs1378272353	missense variant	-	NC_000011.10:g.46890328T>C	gnomAD
LRP4	O75096	p.Glu623Lys	rs1349342637	missense variant	-	NC_000011.10:g.46890325C>T	TOPMed,gnomAD
LRP4	O75096	p.Ala625Val	rs771358499	missense variant	-	NC_000011.10:g.46890318G>A	ExAC,gnomAD
LRP4	O75096	p.Ser630Gly	rs1304183702	missense variant	-	NC_000011.10:g.46890304T>C	TOPMed,gnomAD
LRP4	O75096	p.His631Tyr	rs749829375	missense variant	-	NC_000011.10:g.46890301G>A	ExAC,gnomAD
LRP4	O75096	p.Arg632His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46890297C>T	NCI-TCGA
LRP4	O75096	p.Arg632Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46890298G>A	NCI-TCGA
LRP4	O75096	p.Ala634Thr	rs1484210878	missense variant	-	NC_000011.10:g.46890292C>T	gnomAD
LRP4	O75096	p.Val635Ala	rs1209706178	missense variant	-	NC_000011.10:g.46890288A>G	gnomAD
LRP4	O75096	p.Gln638Ter	rs1473089731	stop gained	-	NC_000011.10:g.46890280G>A	TOPMed
LRP4	O75096	p.Gln638Leu	rs778380145	missense variant	-	NC_000011.10:g.46890279T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro641Leu	rs886048355	missense variant	-	NC_000011.10:g.46890114G>A	gnomAD
LRP4	O75096	p.Pro641Leu	RCV000333383	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46890114G>A	ClinVar
LRP4	O75096	p.Pro643Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46890108G>A	NCI-TCGA
LRP4	O75096	p.Ala645Val	COSM3869207	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890102G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Ala645Thr	COSM1354017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890103C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Ile646Val	rs1315045487	missense variant	-	NC_000011.10:g.46890100T>C	gnomAD
LRP4	O75096	p.Val648Met	rs1387910680	missense variant	-	NC_000011.10:g.46890094C>T	gnomAD
LRP4	O75096	p.Asp651Gly	rs1321374132	missense variant	-	NC_000011.10:g.46890084T>C	gnomAD
LRP4	O75096	p.Trp655Ter	rs747244183	stop gained	-	NC_000011.10:g.46890072C>T	ExAC,gnomAD
LRP4	O75096	p.Thr656Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46890069G>A	NCI-TCGA
LRP4	O75096	p.Asp657Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46890067C>T	NCI-TCGA
LRP4	O75096	p.Ser662Asn	rs753672116	missense variant	-	NC_000011.10:g.46890051C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn664Asp	rs1190494235	missense variant	-	NC_000011.10:g.46890046T>C	gnomAD
LRP4	O75096	p.Asn664Ser	COSM688007	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890045T>C	NCI-TCGA Cosmic
LRP4	O75096	p.Ser665Gly	rs1448571037	missense variant	-	NC_000011.10:g.46890043T>C	gnomAD
LRP4	O75096	p.Ala666Thr	rs756132486	missense variant	-	NC_000011.10:g.46890040C>T	ExAC,gnomAD
LRP4	O75096	p.Lys668Arg	rs1276223193	missense variant	-	NC_000011.10:g.46890033T>C	TOPMed
LRP4	O75096	p.Thr670Met	rs752512047	missense variant	-	NC_000011.10:g.46890027G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Lys672Met	rs1238879722	missense variant	-	NC_000011.10:g.46890021T>A	TOPMed
LRP4	O75096	p.Gln674Lys	rs759069056	missense variant	-	NC_000011.10:g.46890016G>T	ExAC,gnomAD
LRP4	O75096	p.Gln674Arg	rs1225502945	missense variant	-	NC_000011.10:g.46890015T>C	gnomAD
LRP4	O75096	p.Glu675Lys	rs1459106877	missense variant	-	NC_000011.10:g.46890013C>T	TOPMed
LRP4	O75096	p.Ile676Val	rs1177037768	missense variant	-	NC_000011.10:g.46890010T>C	TOPMed
LRP4	O75096	p.Ile677Val	rs751288986	missense variant	-	NC_000011.10:g.46890007T>C	ExAC,gnomAD
LRP4	O75096	p.Arg678Cys	rs1298385569	missense variant	-	NC_000011.10:g.46890004G>A	TOPMed,gnomAD
LRP4	O75096	p.Arg678His	COSM6132722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46890003C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Lys680Gln	rs144675372	missense variant	-	NC_000011.10:g.46889998T>G	ESP,TOPMed
LRP4	O75096	p.Met685Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46889983T>C	NCI-TCGA
LRP4	O75096	p.Asp686Gly	rs766178750	missense variant	-	NC_000011.10:g.46889979T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr689Pro	rs1423421560	missense variant	-	NC_000011.10:g.46889971T>G	TOPMed
LRP4	O75096	p.Thr689Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46889970G>A	NCI-TCGA
LRP4	O75096	p.Gln693SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46889959G>-	NCI-TCGA
LRP4	O75096	p.Arg694Cys	rs1323412236	missense variant	-	NC_000011.10:g.46889956G>A	TOPMed,gnomAD
LRP4	O75096	p.Arg694His	rs1406466481	missense variant	-	NC_000011.10:g.46889955C>T	gnomAD
LRP4	O75096	p.Ala697Val	rs1002301696	missense variant	-	NC_000011.10:g.46889946G>A	gnomAD
LRP4	O75096	p.Arg701Leu	rs749973981	missense variant	-	NC_000011.10:g.46889524C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg701Cys	rs1478952522	missense variant	-	NC_000011.10:g.46889525G>A	TOPMed,gnomAD
LRP4	O75096	p.Arg701His	rs749973981	missense variant	-	NC_000011.10:g.46889524C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Cys702Phe	rs1361879359	missense variant	-	NC_000011.10:g.46889521C>A	TOPMed
LRP4	O75096	p.Gly703Glu	rs941115469	missense variant	-	NC_000011.10:g.46889518C>T	TOPMed,gnomAD
LRP4	O75096	p.Asn705Asp	rs984063208	missense variant	-	NC_000011.10:g.46889513T>C	TOPMed,gnomAD
LRP4	O75096	p.Asn705Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46889511G>T	NCI-TCGA
LRP4	O75096	p.Gly707Arg	RCV000698552	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46889507C>T	ClinVar
LRP4	O75096	p.Gly707Arg	rs1382055371	missense variant	-	NC_000011.10:g.46889507C>T	TOPMed
LRP4	O75096	p.Thr710Met	rs777222715	missense variant	-	NC_000011.10:g.46889497G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.His711Tyr	rs372566777	missense variant	-	NC_000011.10:g.46889495G>A	ESP,TOPMed
LRP4	O75096	p.Pro715Arg	rs1228329471	missense variant	-	NC_000011.10:g.46889482G>C	gnomAD
LRP4	O75096	p.Pro715Ser	rs761148147	missense variant	-	NC_000011.10:g.46889483G>A	ExAC,gnomAD
LRP4	O75096	p.Ser716Asn	rs1351410845	missense variant	-	NC_000011.10:g.46889479C>T	gnomAD
LRP4	O75096	p.Thr721Asn	rs1449945667	missense variant	-	NC_000011.10:g.46889464G>T	gnomAD
LRP4	O75096	p.Ala723Val	rs746117807	missense variant	-	NC_000011.10:g.46889458G>A	ExAC,gnomAD
LRP4	O75096	p.Ala723Thr	rs772133622	missense variant	-	NC_000011.10:g.46889459C>T	ExAC,gnomAD
LRP4	O75096	p.Cys724Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46889455C>A	NCI-TCGA
LRP4	O75096	p.Pro725Ser	rs200855418	missense variant	-	NC_000011.10:g.46889453G>A	gnomAD
LRP4	O75096	p.Pro725Thr	rs200855418	missense variant	-	NC_000011.10:g.46889453G>T	gnomAD
LRP4	O75096	p.Pro725Leu	COSM4033112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46889452G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Thr726Ile	rs1472915863	missense variant	-	NC_000011.10:g.46889449G>A	gnomAD
LRP4	O75096	p.Thr726Ala	rs1158247723	missense variant	-	NC_000011.10:g.46889450T>C	gnomAD
LRP4	O75096	p.Phe728Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46889443A>C	NCI-TCGA
LRP4	O75096	p.Arg729Cys	rs779649263	missense variant	-	NC_000011.10:g.46889441G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Lys730Arg	rs981701779	missense variant	-	NC_000011.10:g.46889437T>C	TOPMed
LRP4	O75096	p.Ser732Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46889431C>A	NCI-TCGA
LRP4	O75096	p.Ser733Asn	rs1185594206	missense variant	-	NC_000011.10:g.46889428C>T	TOPMed,gnomAD
LRP4	O75096	p.His734Pro	rs781117084	missense variant	-	NC_000011.10:g.46889425T>G	ExAC
LRP4	O75096	p.His734Tyr	rs1237077525	missense variant	-	NC_000011.10:g.46889426G>A	gnomAD
LRP4	O75096	p.Ala735Thr	rs746942856	missense variant	-	NC_000011.10:g.46889423C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala735Pro	rs746942856	missense variant	-	NC_000011.10:g.46889423C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala735Val	rs779718508	missense variant	-	NC_000011.10:g.46889422G>A	ExAC,gnomAD
LRP4	O75096	p.Cys736Ser	rs1290566388	missense variant	-	NC_000011.10:g.46889419C>G	gnomAD
LRP4	O75096	p.Cys736Arg	rs1330491610	missense variant	-	NC_000011.10:g.46889420A>G	gnomAD
LRP4	O75096	p.Gln738Arg	rs376437208	missense variant	-	NC_000011.10:g.46889413T>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gln738Pro	rs376437208	missense variant	-	NC_000011.10:g.46889413T>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu740Ile	rs745406319	missense variant	-	NC_000011.10:g.46886531G>T	ExAC,gnomAD
LRP4	O75096	p.Asp741Val	rs753484127	missense variant	-	NC_000011.10:g.46886527T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp741His	rs756917227	missense variant	-	NC_000011.10:g.46886528C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp741Tyr	rs756917227	missense variant	-	NC_000011.10:g.46886528C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Lys742Glu	rs1457345784	missense variant	-	NC_000011.10:g.46886525T>C	gnomAD
LRP4	O75096	p.Arg748Gln	rs545112106	missense variant	-	NC_000011.10:g.46886506C>T	TOPMed
LRP4	O75096	p.Arg748Ter	rs371792710	stop gained	-	NC_000011.10:g.46886507G>A	ESP,ExAC,gnomAD
LRP4	O75096	p.Met750Thr	rs539484177	missense variant	-	NC_000011.10:g.46886500A>G	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Ile752Asn	COSM1354016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46886494A>T	NCI-TCGA Cosmic
LRP4	O75096	p.Ile752Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46886495T>C	NCI-TCGA
LRP4	O75096	p.Arg753Cys	rs753234669	missense variant	-	NC_000011.10:g.46886492G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg753His	rs1188192419	missense variant	-	NC_000011.10:g.46886491C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg753Leu	COSM688008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46886491C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Arg753Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46886492G>T	NCI-TCGA
LRP4	O75096	p.Arg754Gln	rs768053076	missense variant	-	NC_000011.10:g.46886488C>T	ExAC,gnomAD
LRP4	O75096	p.Arg754Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46886489G>C	NCI-TCGA
LRP4	O75096	p.Ser756Asn	COSM1354014	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46886482C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Asp758His	rs1189978589	missense variant	-	NC_000011.10:g.46886477C>G	gnomAD
LRP4	O75096	p.Asp758Asn	rs1189978589	missense variant	-	NC_000011.10:g.46886477C>T	gnomAD
LRP4	O75096	p.Glu760Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46886471C>T	NCI-TCGA
LRP4	O75096	p.Asp761Asn	rs760065771	missense variant	-	NC_000011.10:g.46886468C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser763Thr	rs1270087961	missense variant	-	NC_000011.10:g.46886462A>T	gnomAD
LRP4	O75096	p.Asp764Val	rs1340519265	missense variant	-	NC_000011.10:g.46886458T>A	gnomAD
LRP4	O75096	p.Ala770Thr	rs1356449163	missense variant	-	NC_000011.10:g.46886441C>T	TOPMed,gnomAD
LRP4	O75096	p.Val772Met	rs576451198	missense variant	-	NC_000011.10:g.46886435C>T	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Arg773His	rs374890595	missense variant	-	NC_000011.10:g.46886431C>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg773Cys	rs376444422	missense variant	-	NC_000011.10:g.46886432G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg773His	RCV000275970	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46886431C>T	ClinVar
LRP4	O75096	p.Ser774Asn	rs1386127308	missense variant	-	NC_000011.10:g.46886428C>T	TOPMed,gnomAD
LRP4	O75096	p.Leu778Phe	rs775391288	missense variant	-	NC_000011.10:g.46886417G>A	ExAC,gnomAD
LRP4	O75096	p.Trp780Leu	rs1407716107	missense variant	-	NC_000011.10:g.46886410C>A	TOPMed,gnomAD
LRP4	O75096	p.Arg783Gln	rs771948348	missense variant	-	NC_000011.10:g.46886401C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp784Asn	rs745804953	missense variant	-	NC_000011.10:g.46886399C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp785Gly	rs770405848	missense variant	-	NC_000011.10:g.46886395T>C	ExAC,gnomAD
LRP4	O75096	p.Asp785Asn	rs778352818	missense variant	-	NC_000011.10:g.46886396C>T	ExAC,gnomAD
LRP4	O75096	p.His786Gln	rs371677748	missense variant	-	NC_000011.10:g.46886391G>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Val787Met	rs368412829	missense variant	-	NC_000011.10:g.46886390C>T	ESP,TOPMed,gnomAD
LRP4	O75096	p.Val787Leu	rs368412829	missense variant	-	NC_000011.10:g.46886390C>A	ESP,TOPMed,gnomAD
LRP4	O75096	p.Val792Ile	rs190872977	missense variant	-	NC_000011.10:g.46886375C>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr796Ile	rs753109967	missense variant	-	NC_000011.10:g.46886362G>A	ExAC,gnomAD
LRP4	O75096	p.Lys801Ter	rs752042176	stop gained	-	NC_000011.10:g.46886348T>A	ExAC,gnomAD
LRP4	O75096	p.Lys801Asn	COSM3687325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46886346C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Thr805Lys	rs568002838	missense variant	-	NC_000011.10:g.46886335G>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly806Arg	rs1489535633	missense variant	-	NC_000011.10:g.46886333C>G	TOPMed
LRP4	O75096	p.Gln807His	rs1434051516	missense variant	-	NC_000011.10:g.46886328C>G	gnomAD
LRP4	O75096	p.Glu808Lys	rs763080924	missense variant	-	NC_000011.10:g.46886327C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Val810Ile	rs1246395979	missense variant	-	NC_000011.10:g.46886169C>T	TOPMed
LRP4	O75096	p.Thr813Asn	rs750575417	missense variant	-	NC_000011.10:g.46886159G>T	ExAC,gnomAD
LRP4	O75096	p.Ser814Ile	rs765390755	missense variant	-	NC_000011.10:g.46886156C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu816Asp	rs1390984356	missense variant	-	NC_000011.10:g.46886149C>A	gnomAD
LRP4	O75096	p.Glu816Lys	rs1160590698	missense variant	-	NC_000011.10:g.46886151C>T	gnomAD
LRP4	O75096	p.Val826Ile	rs142660660	missense variant	-	NC_000011.10:g.46886121C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn828Ser	rs1186169758	missense variant	-	NC_000011.10:g.46886114T>C	TOPMed,gnomAD
LRP4	O75096	p.Thr833Arg	rs773987144	missense variant	-	NC_000011.10:g.46886099G>C	ExAC,gnomAD
LRP4	O75096	p.Thr837Arg	rs1433481205	missense variant	-	NC_000011.10:g.46883973G>C	gnomAD
LRP4	O75096	p.Arg839Gln	rs370281520	missense variant	-	NC_000011.10:g.46883967C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg839Trp	rs148910063	missense variant	-	NC_000011.10:g.46883968G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg839Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46883968G>C	NCI-TCGA
LRP4	O75096	p.Ile840Thr	rs566821708	missense variant	-	NC_000011.10:g.46883964A>G	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Asn844Asp	rs775969430	missense variant	-	NC_000011.10:g.46883953T>C	ExAC,gnomAD
LRP4	O75096	p.Thr845Ile	rs768401396	missense variant	-	NC_000011.10:g.46883949G>A	ExAC,gnomAD
LRP4	O75096	p.Ser848Thr	rs376413893	missense variant	-	NC_000011.10:g.46883940C>G	ESP,TOPMed,gnomAD
LRP4	O75096	p.Val852Glu	rs772497723	missense variant	-	NC_000011.10:g.46883928A>T	ExAC,gnomAD
LRP4	O75096	p.Ile854Val	rs907765267	missense variant	-	NC_000011.10:g.46883923T>C	TOPMed
LRP4	O75096	p.Trp855Gly	rs757443033	missense variant	-	NC_000011.10:g.46883920A>C	ExAC,gnomAD
LRP4	O75096	p.Trp855Arg	rs757443033	missense variant	-	NC_000011.10:g.46883920A>G	ExAC,gnomAD
LRP4	O75096	p.Trp855Cys	COSM6068712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46883918C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Glu856Asp	rs781231056	missense variant	-	NC_000011.10:g.46883915C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn857Thr	RCV000325056	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46883913T>G	ClinVar
LRP4	O75096	p.Asn857Thr	rs754708237	missense variant	-	NC_000011.10:g.46883913T>G	ExAC,gnomAD
LRP4	O75096	p.Asn857Asp	rs777703739	missense variant	-	NC_000011.10:g.46883914T>C	ExAC,gnomAD
LRP4	O75096	p.Leu858Ile	rs1482880431	missense variant	-	NC_000011.10:g.46883911G>T	gnomAD
LRP4	O75096	p.Arg860His	rs199997747	missense variant	-	NC_000011.10:g.46883904C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg860Ser	rs1442722011	missense variant	-	NC_000011.10:g.46883905G>T	TOPMed
LRP4	O75096	p.Arg860Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46883905G>A	NCI-TCGA
LRP4	O75096	p.Arg862Trp	rs1216367812	missense variant	-	NC_000011.10:g.46883899G>A	TOPMed,gnomAD
LRP4	O75096	p.Arg862Gln	rs766177806	missense variant	-	NC_000011.10:g.46883898C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp863Glu	rs758144326	missense variant	-	NC_000011.10:g.46883894G>T	ExAC
LRP4	O75096	p.Val865Met	rs765202931	missense variant	-	NC_000011.10:g.46883890C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met869Lys	rs1408810608	missense variant	-	NC_000011.10:g.46883877A>T	gnomAD
LRP4	O75096	p.Met869Val	rs372599233	missense variant	-	NC_000011.10:g.46883878T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met869Ile	rs1370824030	missense variant	-	NC_000011.10:g.46883876C>G	gnomAD
LRP4	O75096	p.Met869Leu	rs372599233	missense variant	-	NC_000011.10:g.46883878T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met869Thr	rs1408810608	missense variant	-	NC_000011.10:g.46883877A>G	gnomAD
LRP4	O75096	p.Gly870Asp	rs776260999	missense variant	-	NC_000011.10:g.46883874C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly870Cys	rs149730166	missense variant	-	NC_000011.10:g.46883875C>A	ESP,TOPMed,gnomAD
LRP4	O75096	p.Tyr872Cys	rs750264209	missense variant	-	NC_000011.10:g.46881901T>C	ExAC,gnomAD
LRP4	O75096	p.Met873Val	rs778662997	missense variant	-	NC_000011.10:g.46881899T>C	ExAC,gnomAD
LRP4	O75096	p.Met873Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46881897C>T	NCI-TCGA
LRP4	O75096	p.Ala880Val	rs373683358	missense variant	-	NC_000011.10:g.46881877G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala880Val	RCV000272387	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46881877G>A	ClinVar
LRP4	O75096	p.Ser881Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46881874C>T	NCI-TCGA
LRP4	O75096	p.Ile884Val	rs1489861186	missense variant	-	NC_000011.10:g.46881866T>C	TOPMed
LRP4	O75096	p.Arg886Gln	rs1179167925	missense variant	-	NC_000011.10:g.46881859C>T	gnomAD
LRP4	O75096	p.Arg886Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.46881860G>A	NCI-TCGA
LRP4	O75096	p.Gly888Val	rs767317159	missense variant	-	NC_000011.10:g.46881853C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly888Asp	rs767317159	missense variant	-	NC_000011.10:g.46881853C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala891Ser	rs774924942	missense variant	-	NC_000011.10:g.46881845C>A	ExAC,gnomAD
LRP4	O75096	p.Gly893Val	rs1307667102	missense variant	-	NC_000011.10:g.46881838C>A	gnomAD
LRP4	O75096	p.Arg894His	rs1208662959	missense variant	-	NC_000011.10:g.46881835C>T	gnomAD
LRP4	O75096	p.Ile897Val	rs773547550	missense variant	-	NC_000011.10:g.46881827T>C	ExAC,gnomAD
LRP4	O75096	p.Ser900Phe	rs1226237597	missense variant	-	NC_000011.10:g.46881817G>A	gnomAD
LRP4	O75096	p.Thr903Ala	rs748270486	missense variant	-	NC_000011.10:g.46881809T>C	ExAC,gnomAD
LRP4	O75096	p.Gly907Val	rs768920196	missense variant	-	NC_000011.10:g.46881796C>A	ExAC
LRP4	O75096	p.Ala909Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46881791C>T	NCI-TCGA
LRP4	O75096	p.Ile910Leu	rs1319734488	missense variant	-	NC_000011.10:g.46881788T>G	gnomAD
LRP4	O75096	p.Tyr912His	rs369179276	missense variant	-	NC_000011.10:g.46881782A>G	ESP,TOPMed,gnomAD
LRP4	O75096	p.Tyr912Phe	rs756941634	missense variant	-	NC_000011.10:g.46881781T>A	ExAC,gnomAD
LRP4	O75096	p.Gly913Glu	rs376848284	missense variant	-	NC_000011.10:g.46881778C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg916Cys	rs147259655	missense variant	-	NC_000011.10:g.46881770G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg916Cys	RCV000643981	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46881770G>A	ClinVar
LRP4	O75096	p.Arg916Ser	rs147259655	missense variant	-	NC_000011.10:g.46881770G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg916His	rs752315031	missense variant	-	NC_000011.10:g.46881769C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Tyr918Asn	rs1363170019	missense variant	-	NC_000011.10:g.46881764A>T	TOPMed
LRP4	O75096	p.Ala920Thr	rs1486508644	missense variant	-	NC_000011.10:g.46881758C>T	gnomAD
LRP4	O75096	p.Asp921Asn	COSM3809295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46881755C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Ala922Thr	rs766792288	missense variant	-	NC_000011.10:g.46881752C>T	ExAC,gnomAD
LRP4	O75096	p.Gly923Ser	rs765716290	missense variant	-	NC_000011.10:g.46881749C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met924Val	rs1247727700	missense variant	-	NC_000011.10:g.46881746T>C	gnomAD
LRP4	O75096	p.Lys925Arg	rs762291377	missense variant	-	NC_000011.10:g.46881742T>C	ExAC,gnomAD
LRP4	O75096	p.Glu928Lys	rs776754786	missense variant	-	NC_000011.10:g.46881734C>T	ExAC,gnomAD
LRP4	O75096	p.Phe929Cys	rs1478018191	missense variant	-	NC_000011.10:g.46881730A>C	TOPMed,gnomAD
LRP4	O75096	p.Leu932Val	rs768654279	missense variant	-	NC_000011.10:g.46881722G>C	ExAC
LRP4	O75096	p.Leu932LeuTerGlu	rs754746102	stop gained	-	NC_000011.10:g.46881720_46881721insTCTTAC	ExAC
LRP4	O75096	p.Leu932Gln	rs747242156	missense variant	-	NC_000011.10:g.46881721A>T	ExAC
LRP4	O75096	p.Asp933Gly	rs746556640	missense variant	-	NC_000011.10:g.46881718T>C	ExAC,TOPMed
LRP4	O75096	p.Ser935Arg	rs1044241033	missense variant	-	NC_000011.10:g.46881713T>G	TOPMed,gnomAD
LRP4	O75096	p.Ser935Gly	rs1044241033	missense variant	-	NC_000011.10:g.46881713T>C	TOPMed,gnomAD
LRP4	O75096	p.Lys936Asn	rs749076731	missense variant	-	NC_000011.10:g.46881708C>A	ExAC,gnomAD
LRP4	O75096	p.Lys936Thr	rs770789654	missense variant	-	NC_000011.10:g.46881709T>G	ExAC,gnomAD
LRP4	O75096	p.Ser943Arg	rs762307866	missense variant	-	NC_000011.10:g.46879303T>G	ExAC,gnomAD
LRP4	O75096	p.Gln944Ter	rs1218582533	stop gained	-	NC_000011.10:g.46879300G>A	gnomAD
LRP4	O75096	p.Pro946Arg	rs368880157	missense variant	-	NC_000011.10:g.46879293G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro946Leu	rs368880157	missense variant	-	NC_000011.10:g.46879293G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.His947Tyr	rs760704709	missense variant	-	NC_000011.10:g.46879291G>A	ExAC,gnomAD
LRP4	O75096	p.Thr952Ile	COSM3447719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46879275G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Tyr954Cys	rs775608977	missense variant	-	NC_000011.10:g.46879269T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly955Arg	rs772232191	missense variant	-	NC_000011.10:g.46879267C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu956Ter	RCV000699205	nonsense	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46879264C>A	ClinVar
LRP4	O75096	p.Arg957His	rs374161249	missense variant	-	NC_000011.10:g.46879260C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg957Pro	rs374161249	missense variant	-	NC_000011.10:g.46879260C>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Tyr959Cys	COSM3397713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46879254T>C	NCI-TCGA Cosmic
LRP4	O75096	p.Trp963CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46879241C>-	NCI-TCGA
LRP4	O75096	p.Gln964Glu	rs1202089878	missense variant	-	NC_000011.10:g.46879240G>C	gnomAD
LRP4	O75096	p.Thr965Ser	rs919556244	missense variant	-	NC_000011.10:g.46879236G>C	gnomAD
LRP4	O75096	p.Ser967Gly	rs781238429	missense variant	-	NC_000011.10:g.46879231T>C	ExAC,gnomAD
LRP4	O75096	p.Ser967Arg	rs781238429	missense variant	-	NC_000011.10:g.46879231T>G	ExAC,gnomAD
LRP4	O75096	p.Ser967Ile	rs1196026009	missense variant	-	NC_000011.10:g.46879230C>A	gnomAD
LRP4	O75096	p.Gln969Ter	rs1475679001	stop gained	-	NC_000011.10:g.46879225G>A	TOPMed
LRP4	O75096	p.Ala971Thr	rs771933495	missense variant	-	NC_000011.10:g.46879219C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg973Gly	rs368011278	missense variant	-	NC_000011.10:g.46879213G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg973Gln	rs200029707	missense variant	-	NC_000011.10:g.46879212C>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg973Leu	rs200029707	missense variant	-	NC_000011.10:g.46879212C>A	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg973Trp	rs368011278	missense variant	-	NC_000011.10:g.46879213G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp978Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46879198C>T	NCI-TCGA
LRP4	O75096	p.Arg979Gly	rs757565682	missense variant	-	NC_000011.10:g.46879195G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg979Gln	rs754372042	missense variant	-	NC_000011.10:g.46879194C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg979Trp	rs757565682	missense variant	-	NC_000011.10:g.46879195G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu980Lys	rs764623614	missense variant	-	NC_000011.10:g.46879192C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr981Ser	rs562287153	missense variant	-	NC_000011.10:g.46879188G>C	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Leu986Met	rs1287755727	missense variant	-	NC_000011.10:g.46879174G>T	gnomAD
LRP4	O75096	p.Asn988MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46879167_46879168insCTCA	NCI-TCGA
LRP4	O75096	p.Asn988SerPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000011.10:g.46879169_46879170insACTACAGCTGCCACATATAAGCTGATGAC	NCI-TCGA
LRP4	O75096	p.Leu989Val	rs374107282	missense variant	-	NC_000011.10:g.46879165G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.His993Tyr	COSM4901149	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46879153G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Val994Ile	rs370091369	missense variant	-	NC_000011.10:g.46879150C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.His996Tyr	rs761742866	missense variant	-	NC_000011.10:g.46879144G>A	ExAC,gnomAD
LRP4	O75096	p.Arg997His	rs776547887	missense variant	-	NC_000011.10:g.46879140C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg997Cys	rs1182075915	missense variant	-	NC_000011.10:g.46879141G>A	TOPMed,gnomAD
LRP4	O75096	p.Arg998His	rs746964729	missense variant	-	NC_000011.10:g.46879137C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg998Cys	rs61749460	missense variant	-	NC_000011.10:g.46879138G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg999Gln	rs779430923	missense variant	-	NC_000011.10:g.46879134C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg999Trp	rs1404612994	missense variant	-	NC_000011.10:g.46879135G>A	gnomAD
LRP4	O75096	p.Pro1001Arg	rs1190359818	missense variant	-	NC_000011.10:g.46879128G>C	TOPMed
LRP4	O75096	p.Pro1001Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46879129G>A	NCI-TCGA
LRP4	O75096	p.Val1002Leu	rs1250053876	missense variant	-	NC_000011.10:g.46879126C>G	TOPMed
LRP4	O75096	p.Thr1004Ile	rs748934744	missense variant	-	NC_000011.10:g.46879032G>A	ExAC,gnomAD
LRP4	O75096	p.Pro1005Arg	rs1384220005	missense variant	-	NC_000011.10:g.46879029G>C	gnomAD
LRP4	O75096	p.Pro1005Ser	rs1238838888	missense variant	-	NC_000011.10:g.46879030G>A	gnomAD
LRP4	O75096	p.Met1008Val	rs886048352	missense variant	-	NC_000011.10:g.46879021T>C	-
LRP4	O75096	p.Met1008Val	RCV000264061	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46879021T>C	ClinVar
LRP4	O75096	p.Met1008Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46879020A>G	NCI-TCGA
LRP4	O75096	p.Gly1011Asp	rs778125205	missense variant	-	NC_000011.10:g.46879011C>T	ExAC,gnomAD
LRP4	O75096	p.Gly1012Asp	rs748636802	missense variant	-	NC_000011.10:g.46879008C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1012Val	rs748636802	missense variant	-	NC_000011.10:g.46879008C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1012Ser	rs1424972529	missense variant	-	NC_000011.10:g.46879009C>T	TOPMed,gnomAD
LRP4	O75096	p.Leu1016Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46878997G>T	NCI-TCGA
LRP4	O75096	p.Cys1017Arg	VAR_063782	Missense	Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]	-	UniProt
LRP4	O75096	p.Arg1019Lys	rs182517846	missense variant	-	NC_000011.10:g.46878987C>T	1000Genomes,TOPMed
LRP4	O75096	p.Asn1022Asp	rs61742871	missense variant	-	NC_000011.10:g.46878979T>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1022Asp	RCV000730173	missense variant	-	NC_000011.10:g.46878979T>C	ClinVar
LRP4	O75096	p.Asn1022Asp	RCV000361080	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46878979T>C	ClinVar
LRP4	O75096	p.Asn1022Asp	RCV000551909	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46878979T>C	ClinVar
LRP4	O75096	p.Pro1023Ser	rs201695857	missense variant	-	NC_000011.10:g.46878976G>A	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1023Thr	rs201695857	missense variant	-	NC_000011.10:g.46878976G>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1023Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46878976G>C	NCI-TCGA
LRP4	O75096	p.Gly1025Arg	rs141565454	missense variant	-	NC_000011.10:g.46878970C>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1025Arg	rs141565454	missense variant	-	NC_000011.10:g.46878970C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1025Glu	COSM5276875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46878969C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Pro1031Thr	rs760476180	missense variant	-	NC_000011.10:g.46878952G>T	ExAC,gnomAD
LRP4	O75096	p.Pro1031Leu	rs775114362	missense variant	-	NC_000011.10:g.46878951G>A	ExAC,gnomAD
LRP4	O75096	p.Ile1034Thr	rs1194108607	missense variant	-	NC_000011.10:g.46878942A>G	gnomAD
LRP4	O75096	p.Asn1035Ser	rs767536610	missense variant	-	NC_000011.10:g.46878939T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr1042Ser	rs1229972018	missense variant	-	NC_000011.10:g.46878919T>A	TOPMed
LRP4	O75096	p.Thr1042Ile	rs759377523	missense variant	-	NC_000011.10:g.46878918G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1045Ser	rs1328422884	missense variant	-	NC_000011.10:g.46878910G>A	TOPMed
LRP4	O75096	p.Pro1045Arg	rs773916703	missense variant	-	NC_000011.10:g.46878909G>C	ExAC,gnomAD
LRP4	O75096	p.Ser1049Arg	rs747753710	missense variant	-	NC_000011.10:g.46877331T>G	ExAC,gnomAD
LRP4	O75096	p.Ile1052Phe	rs1388507666	missense variant	-	NC_000011.10:g.46877322T>A	gnomAD
LRP4	O75096	p.Ala1054Thr	rs1010986881	missense variant	-	NC_000011.10:g.46877316C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg1056Gly	rs747536043	missense variant	-	NC_000011.10:g.46877310T>C	ExAC,gnomAD
LRP4	O75096	p.Ile1057Val	rs1229285343	missense variant	-	NC_000011.10:g.46877307T>C	TOPMed
LRP4	O75096	p.Arg1060Cys	COSM282512	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46877298G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Met1061Leu	rs780663473	missense variant	-	NC_000011.10:g.46877295T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met1061Val	rs780663473	missense variant	-	NC_000011.10:g.46877295T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met1061Ile	rs772673278	missense variant	-	NC_000011.10:g.46877293C>T	ExAC,gnomAD
LRP4	O75096	p.Val1062Leu	rs1163483037	missense variant	-	NC_000011.10:g.46877292C>G	gnomAD
LRP4	O75096	p.Pro1067Ser	rs376844404	missense variant	-	NC_000011.10:g.46877277G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1067Thr	rs376844404	missense variant	-	NC_000011.10:g.46877277G>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1067Leu	rs1243006183	missense variant	-	NC_000011.10:g.46877276G>A	gnomAD
LRP4	O75096	p.Ala1070Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46877268C>T	NCI-TCGA
LRP4	O75096	p.Asp1071Val	COSM1354013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46877264T>A	NCI-TCGA Cosmic
LRP4	O75096	p.Val1072Met	rs781054708	missense variant	-	NC_000011.10:g.46877262C>T	ExAC,gnomAD
LRP4	O75096	p.Pro1075Gln	rs766355288	missense variant	-	NC_000011.10:g.46877252G>T	ExAC,gnomAD
LRP4	O75096	p.Ile1076Val	rs1318172261	missense variant	-	NC_000011.10:g.46877250T>C	TOPMed
LRP4	O75096	p.Ile1078Val	rs1280960378	missense variant	-	NC_000011.10:g.46877244T>C	gnomAD
LRP4	O75096	p.Thr1079Asn	rs1381410610	missense variant	-	NC_000011.10:g.46877240G>T	gnomAD
LRP4	O75096	p.Thr1079ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46877240_46877241insAGGTTGCAGTGAGCCGAGATCGCCCCACTGCACTCCAGCC	NCI-TCGA
LRP4	O75096	p.Met1080Val	rs1337307833	missense variant	-	NC_000011.10:g.46877238T>C	TOPMed,gnomAD
LRP4	O75096	p.Met1080Lys	rs1189815031	missense variant	-	NC_000011.10:g.46877237A>T	TOPMed
LRP4	O75096	p.Lys1081Arg	rs944566732	missense variant	-	NC_000011.10:g.46877234T>C	TOPMed
LRP4	O75096	p.AlaIle1085AlaLeu	rs1555172311	missense variant	-	NC_000011.10:g.46877220_46877221delinsGT	-
LRP4	O75096	p.Ile1086Val	rs6485702	missense variant	-	NC_000011.10:g.46877220T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile1086Val	RCV000592035	missense variant	-	NC_000011.10:g.46877220T>C	ClinVar
LRP4	O75096	p.Ile1086Val	RCV000299043	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46877220T>C	ClinVar
LRP4	O75096	p.Ile1086Leu	RCV000530766	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46877220_46877221delinsGT	ClinVar
LRP4	O75096	p.Gly1087Glu	rs1190250171	missense variant	-	NC_000011.10:g.46877216C>T	TOPMed,gnomAD
LRP4	O75096	p.Gly1087Arg	rs906337352	missense variant	-	NC_000011.10:g.46877217C>T	TOPMed,gnomAD
LRP4	O75096	p.Val1088Ala	rs764588435	missense variant	-	NC_000011.10:g.46877213A>G	ExAC,gnomAD
LRP4	O75096	p.Asp1089Glu	rs150616375	missense variant	-	NC_000011.10:g.46877209G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1090Ser	rs920291599	missense variant	-	NC_000011.10:g.46877208G>A	TOPMed,gnomAD
LRP4	O75096	p.Gln1091Arg	rs1448962979	missense variant	-	NC_000011.10:g.46877204T>C	TOPMed
LRP4	O75096	p.Val1095Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46876824A>G	NCI-TCGA
LRP4	O75096	p.Trp1097Arg	rs1363796018	missense variant	-	NC_000011.10:g.46876819A>G	gnomAD
LRP4	O75096	p.Ser1098Thr	rs368653860	missense variant	-	NC_000011.10:g.46876816A>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1099Glu	rs1251157853	missense variant	-	NC_000011.10:g.46876811G>C	TOPMed
LRP4	O75096	p.Leu1102Gln	rs1403299399	missense variant	-	NC_000011.10:g.46876803A>T	gnomAD
LRP4	O75096	p.Leu1102Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46876803A>G	NCI-TCGA
LRP4	O75096	p.His1103Gln	rs1365174980	missense variant	-	NC_000011.10:g.46876799G>C	TOPMed,gnomAD
LRP4	O75096	p.His1103Leu	rs774672727	missense variant	-	NC_000011.10:g.46876800T>A	ExAC,gnomAD
LRP4	O75096	p.Arg1104Gly	rs1194163134	missense variant	-	NC_000011.10:g.46876798T>C	TOPMed
LRP4	O75096	p.Arg1104Met	COSM927333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46876797C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Arg1107Leu	rs750691101	missense variant	-	NC_000011.10:g.46876788C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1107Cys	rs1304002489	missense variant	-	NC_000011.10:g.46876789G>A	gnomAD
LRP4	O75096	p.Arg1107His	rs750691101	missense variant	-	NC_000011.10:g.46876788C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1109Ser	rs773329789	missense variant	-	NC_000011.10:g.46876782T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1111Gly	rs748305507	missense variant	-	NC_000011.10:g.46876776T>C	ExAC,gnomAD
LRP4	O75096	p.Asp1111Asn	rs770071302	missense variant	-	NC_000011.10:g.46876777C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1112Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46876774C>A	NCI-TCGA
LRP4	O75096	p.Gly1112Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46876773C>A	NCI-TCGA
LRP4	O75096	p.Ser1113Leu	rs561858345	missense variant	-	NC_000011.10:g.46876770G>A	gnomAD
LRP4	O75096	p.Gln1114Arg	rs779840842	missense variant	-	NC_000011.10:g.46876767T>C	ExAC,gnomAD
LRP4	O75096	p.Gln1114Leu	rs779840842	missense variant	-	NC_000011.10:g.46876767T>A	ExAC,gnomAD
LRP4	O75096	p.Gln1114His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46876766C>A	NCI-TCGA
LRP4	O75096	p.His1115Arg	rs758144252	missense variant	-	NC_000011.10:g.46876764T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.His1115Gln	rs745844140	missense variant	-	NC_000011.10:g.46876763A>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1117Asn	rs1479367410	missense variant	-	NC_000011.10:g.46876759C>T	TOPMed,gnomAD
LRP4	O75096	p.Thr1121Ala	COSM429043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46876747T>C	NCI-TCGA Cosmic
LRP4	O75096	p.Gly1122Ala	rs766854343	missense variant	-	NC_000011.10:g.46876637C>G	ExAC,gnomAD
LRP4	O75096	p.Gly1122Arg	COSM3447718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46876744C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Leu1123Ile	rs763514608	missense variant	-	NC_000011.10:g.46876635G>T	ExAC,gnomAD
LRP4	O75096	p.Leu1123Pro	rs773282442	missense variant	-	NC_000011.10:g.46876634A>G	ExAC,gnomAD
LRP4	O75096	p.Leu1129Phe	rs776789609	missense variant	-	NC_000011.10:g.46876617G>A	ExAC,gnomAD
LRP4	O75096	p.Ala1130Val	rs138418874	missense variant	-	NC_000011.10:g.46876613G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala1130Thr	rs142904009	missense variant	-	NC_000011.10:g.46876614C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1132Gly	rs1379218758	missense variant	-	NC_000011.10:g.46876607T>C	gnomAD
LRP4	O75096	p.Ile1134Thr	rs1452628718	missense variant	-	NC_000011.10:g.46876601A>G	gnomAD
LRP4	O75096	p.Gly1135Ala	rs377670993	missense variant	-	NC_000011.10:g.46876598C>G	ESP,ExAC,gnomAD
LRP4	O75096	p.Arg1136Gln	RCV000643985	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46876595C>T	ClinVar
LRP4	O75096	p.Arg1136Gln	rs61736853	missense variant	-	NC_000011.10:g.46876595C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1136Trp	rs777439267	missense variant	-	NC_000011.10:g.46876596G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1136Gln	RCV000329322	missense variant	-	NC_000011.10:g.46876595C>T	ClinVar
LRP4	O75096	p.Asp1142Tyr	rs767327311	missense variant	-	NC_000011.10:g.46876578C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1142Asn	rs767327311	missense variant	-	NC_000011.10:g.46876578C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1142Glu	rs200272958	missense variant	-	NC_000011.10:g.46876576G>T	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Thr1143Met	rs751933622	missense variant	-	NC_000011.10:g.46876574G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr1143Met	RCV000643984	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46876574G>A	ClinVar
LRP4	O75096	p.Arg1147Gly	rs763380383	missense variant	-	NC_000011.10:g.46876563G>C	ExAC,gnomAD
LRP4	O75096	p.Arg1147Gln	rs1485430856	missense variant	-	NC_000011.10:g.46876562C>T	gnomAD
LRP4	O75096	p.Val1150Gly	rs1239897544	missense variant	-	NC_000011.10:g.46876553A>C	TOPMed
LRP4	O75096	p.Gly1151Asp	rs370497551	missense variant	-	NC_000011.10:g.46876550C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1152Ile	rs761925202	missense variant	-	NC_000011.10:g.46876547T>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1152Asp	rs765327905	missense variant	-	NC_000011.10:g.46876548T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1152His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46876548T>G	NCI-TCGA
LRP4	O75096	p.Gly1155Trp	COSM6132725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46876539C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Ser1156Phe	rs774023864	missense variant	-	NC_000011.10:g.46876535G>A	ExAC,gnomAD
LRP4	O75096	p.Met1157Thr	rs1289082348	missense variant	-	NC_000011.10:g.46876532A>G	gnomAD
LRP4	O75096	p.Met1157Val	rs770703872	missense variant	-	NC_000011.10:g.46876533T>C	ExAC,gnomAD
LRP4	O75096	p.Arg1158Trp	RCV000338690	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46876530G>A	ClinVar
LRP4	O75096	p.Arg1158Trp	rs886048351	missense variant	-	NC_000011.10:g.46876530G>A	TOPMed,gnomAD
LRP4	O75096	p.Arg1158Gly	rs886048351	missense variant	-	NC_000011.10:g.46876530G>C	TOPMed,gnomAD
LRP4	O75096	p.Arg1158Gln	rs150306458	missense variant	-	NC_000011.10:g.46876529C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Lys1159Glu	rs777813275	missense variant	-	NC_000011.10:g.46876527T>C	ExAC,gnomAD
LRP4	O75096	p.Val1160Leu	rs899058515	missense variant	-	NC_000011.10:g.46876524C>G	TOPMed
LRP4	O75096	p.Asn1165Ile	rs1183373620	missense variant	-	NC_000011.10:g.46876508T>A	TOPMed
LRP4	O75096	p.Ser1168Thr	rs769832658	missense variant	-	NC_000011.10:g.46876499C>G	ExAC,gnomAD
LRP4	O75096	p.Pro1169Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46876497G>A	NCI-TCGA
LRP4	O75096	p.Pro1169Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46876496G>A	NCI-TCGA
LRP4	O75096	p.Arg1170Trp	rs387906884	missense variant	Sclerosteosis 2 (sost2)	NC_000011.10:g.46876494G>A	ExAC,gnomAD
LRP4	O75096	p.Arg1170Trp	rs387906884	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46876494G>A	UniProt,dbSNP
LRP4	O75096	p.Arg1170Trp	VAR_066630	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46876494G>A	UniProt
LRP4	O75096	p.Arg1170Gln	rs1190944217	missense variant	-	NC_000011.10:g.46876493C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg1170Trp	RCV000023364	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46876494G>A	ClinVar
LRP4	O75096	p.Ala1171Asp	rs1332936896	missense variant	-	NC_000011.10:g.46876490G>T	gnomAD
LRP4	O75096	p.Ala1171Val	rs1332936896	missense variant	-	NC_000011.10:g.46876490G>A	gnomAD
LRP4	O75096	p.Val1173Ile	rs1262243208	missense variant	-	NC_000011.10:g.46876485C>T	gnomAD
LRP4	O75096	p.Leu1174Pro	rs372601314	missense variant	-	NC_000011.10:g.46876481A>G	ESP
LRP4	O75096	p.Glu1177Asp	rs1289900412	missense variant	-	NC_000011.10:g.46876471C>G	TOPMed,gnomAD
LRP4	O75096	p.Met1178Thr	rs780301972	missense variant	-	NC_000011.10:g.46876469A>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met1178Ile	rs758745715	missense variant	-	NC_000011.10:g.46876468C>T	ExAC,gnomAD
LRP4	O75096	p.Trp1183Arg	rs759832962	missense variant	-	NC_000011.10:g.46875956A>G	ExAC,gnomAD
LRP4	O75096	p.Trp1183Leu	COSM5704013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875955C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Thr1184Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875953T>C	NCI-TCGA
LRP4	O75096	p.Asp1185Glu	rs1189743163	missense variant	-	NC_000011.10:g.46875948G>C	TOPMed
LRP4	O75096	p.Trp1186Arg	rs773144048	missense variant	-	NC_000011.10:g.46875947A>T	ExAC
LRP4	O75096	p.Trp1186Ter	rs1239248668	stop gained	-	NC_000011.10:g.46875945C>T	TOPMed,gnomAD
LRP4	O75096	p.Trp1186Ser	rs387906883	missense variant	Sclerosteosis 2 (sost2)	NC_000011.10:g.46875946C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Trp1186Ser	rs387906883	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46875946C>G	UniProt,dbSNP
LRP4	O75096	p.Trp1186Ser	VAR_066631	missense variant	Sclerosteosis 2 (SOST2)	NC_000011.10:g.46875946C>G	UniProt
LRP4	O75096	p.Trp1186Ter	rs387906883	stop gained	Sclerosteosis 2 (sost2)	NC_000011.10:g.46875946C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Trp1186Leu	rs387906883	missense variant	Sclerosteosis 2 (sost2)	NC_000011.10:g.46875946C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Trp1186Ser	rs387906883	missense variant	Sclerosteosis 2 (sost2)	NC_000011.10:g.46875946C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Trp1186Cys	rs1239248668	missense variant	-	NC_000011.10:g.46875945C>A	TOPMed,gnomAD
LRP4	O75096	p.Trp1186Ser	RCV000800068	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875946C>G	ClinVar
LRP4	O75096	p.Gly1187Arg	rs1201145181	missense variant	-	NC_000011.10:g.46875944C>T	gnomAD
LRP4	O75096	p.Glu1188Lys	rs776588305	missense variant	-	NC_000011.10:g.46875941C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu1188ArgPheSerTerUnk	rs764342618	frameshift	-	NC_000011.10:g.46875941C>-	NCI-TCGA
LRP4	O75096	p.Asn1189Asp	rs1479504434	missense variant	-	NC_000011.10:g.46875938T>C	TOPMed,gnomAD
LRP4	O75096	p.Glu1193Gln	rs768443059	missense variant	-	NC_000011.10:g.46875926C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1194Gln	rs369916883	missense variant	-	NC_000011.10:g.46875922C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1194Trp	rs746573834	missense variant	-	NC_000011.10:g.46875923G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1195Tyr	rs1315102279	missense variant	-	NC_000011.10:g.46875919G>T	TOPMed
LRP4	O75096	p.Gly1196Glu	rs746464834	missense variant	-	NC_000011.10:g.46875916C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1196Arg	rs745459741	missense variant	-	NC_000011.10:g.46875917C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met1197Val	rs1250023334	missense variant	-	NC_000011.10:g.46875914T>C	TOPMed,gnomAD
LRP4	O75096	p.Met1197Leu	rs1250023334	missense variant	-	NC_000011.10:g.46875914T>A	TOPMed,gnomAD
LRP4	O75096	p.Ser1200Leu	rs749792822	missense variant	-	NC_000011.10:g.46875904G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1201Glu	rs1427457745	missense variant	-	NC_000011.10:g.46875900G>T	TOPMed,gnomAD
LRP4	O75096	p.Arg1202His	rs778385797	missense variant	-	NC_000011.10:g.46875898C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1202Cys	rs1460217409	missense variant	-	NC_000011.10:g.46875899G>A	-
LRP4	O75096	p.Ala1203Val	rs2306033	missense variant	-	NC_000011.10:g.46875895G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala1203Val	rs2306033	missense variant	-	NC_000011.10:g.46875895G>A	UniProt,dbSNP
LRP4	O75096	p.Ala1203Val	VAR_058291	missense variant	-	NC_000011.10:g.46875895G>A	UniProt
LRP4	O75096	p.Ala1203Thr	rs752888601	missense variant	-	NC_000011.10:g.46875896C>T	ExAC,gnomAD
LRP4	O75096	p.Ala1203Val	RCV000300095	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875895G>A	ClinVar
LRP4	O75096	p.Val1204Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875893C>T	NCI-TCGA
LRP4	O75096	p.Ile1206Val	rs1243100512	missense variant	-	NC_000011.10:g.46875887T>C	gnomAD
LRP4	O75096	p.Ile1206Leu	rs1243100512	missense variant	-	NC_000011.10:g.46875887T>G	gnomAD
LRP4	O75096	p.Asn1207Ser	rs151234321	missense variant	-	NC_000011.10:g.46875883T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1207Ser	RCV000393021	missense variant	-	NC_000011.10:g.46875883T>C	ClinVar
LRP4	O75096	p.Asn1207Ser	RCV000394052	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875883T>C	ClinVar
LRP4	O75096	p.Asn1208Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875880T>G	NCI-TCGA
LRP4	O75096	p.Gly1215Arg	rs746377167	missense variant	-	NC_000011.10:g.46875860C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1215Glu	COSM3447717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875859C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Thr1217Ile	rs1204251465	missense variant	-	NC_000011.10:g.46875853G>A	gnomAD
LRP4	O75096	p.Val1218Met	rs1233561496	missense variant	-	NC_000011.10:g.46875851C>T	TOPMed
LRP4	O75096	p.Ala1221Asp	rs1353784935	missense variant	-	NC_000011.10:g.46875841G>T	gnomAD
LRP4	O75096	p.Ser1222Thr	rs761736564	missense variant	-	NC_000011.10:g.46875838C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1222Asn	rs761736564	missense variant	-	NC_000011.10:g.46875838C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gln1224Pro	rs1243641330	missense variant	-	NC_000011.10:g.46875832T>G	gnomAD
LRP4	O75096	p.Gln1224Ter	COSM3986185	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46875833G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Asp1229Asn	rs760528582	missense variant	-	NC_000011.10:g.46875818C>T	ExAC,gnomAD
LRP4	O75096	p.Ala1230Val	rs1400391311	missense variant	-	NC_000011.10:g.46875814G>A	gnomAD
LRP4	O75096	p.Ala1230Thr	rs775073094	missense variant	-	NC_000011.10:g.46875815C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.His1231Tyr	rs1454832687	missense variant	-	NC_000011.10:g.46875812G>A	TOPMed
LRP4	O75096	p.Thr1232Ser	rs1361208305	missense variant	-	NC_000011.10:g.46875808G>C	gnomAD
LRP4	O75096	p.Glu1233Lys	RCV000170320	missense variant	Myasthenic syndrome, congenital, 17 (CMS17)	NC_000011.10:g.46875806C>T	ClinVar
LRP4	O75096	p.Glu1233Lys	rs786205153	missense variant	-	NC_000011.10:g.46875806C>T	TOPMed
LRP4	O75096	p.Arg1234Gly	rs142130999	missense variant	-	NC_000011.10:g.46875681G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1234Gln	rs754092006	missense variant	-	NC_000011.10:g.46875680C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1234Ter	rs142130999	stop gained	-	NC_000011.10:g.46875681G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala1237Ser	rs748719669	missense variant	-	NC_000011.10:g.46875672C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala1237Ser	RCV000296675	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875672C>A	ClinVar
LRP4	O75096	p.Ala1238Thr	rs2306031	missense variant	-	NC_000011.10:g.46875669C>T	-
LRP4	O75096	p.Ala1238Thr	rs2306031	missense variant	-	NC_000011.10:g.46875669C>T	UniProt,dbSNP
LRP4	O75096	p.Ala1238Thr	VAR_058292	missense variant	-	NC_000011.10:g.46875669C>T	UniProt
LRP4	O75096	p.Ala1238Val	COSM6132726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875668G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Asn1241Ser	rs769260734	missense variant	-	NC_000011.10:g.46875659T>C	ExAC,gnomAD
LRP4	O75096	p.AlaAsn1243AlaTyr	rs1057518573	missense variant	-	NC_000011.10:g.46875651_46875652delinsAA	-
LRP4	O75096	p.Asn1244Ser	rs376299085	missense variant	-	NC_000011.10:g.46875650T>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1244Tyr	RCV000412842	missense variant	-	NC_000011.10:g.46875651_46875652delinsAA	ClinVar
LRP4	O75096	p.Arg1245Gln	rs147619901	missense variant	-	NC_000011.10:g.46875647C>T	ESP,TOPMed,gnomAD
LRP4	O75096	p.His1246Tyr	rs1170599024	missense variant	-	NC_000011.10:g.46875645G>A	gnomAD
LRP4	O75096	p.His1246Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875645G>T	NCI-TCGA
LRP4	O75096	p.Thr1247Ile	rs780281062	missense variant	-	NC_000011.10:g.46875641G>A	ExAC,gnomAD
LRP4	O75096	p.Leu1248Trp	rs758655693	missense variant	-	NC_000011.10:g.46875638A>C	ExAC,gnomAD
LRP4	O75096	p.Leu1248Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875639A>T	NCI-TCGA
LRP4	O75096	p.Pro1251Leu	RCV000402952	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875629G>A	ClinVar
LRP4	O75096	p.Pro1251Leu	rs145422541	missense variant	-	NC_000011.10:g.46875629G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1251Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875629G>T	NCI-TCGA
LRP4	O75096	p.His1254Tyr	rs1479377873	missense variant	-	NC_000011.10:g.46875621G>A	gnomAD
LRP4	O75096	p.Pro1255Thr	rs1217935242	missense variant	-	NC_000011.10:g.46875618G>T	TOPMed
LRP4	O75096	p.Tyr1256Cys	rs759457869	missense variant	-	NC_000011.10:g.46875614T>C	ExAC,gnomAD
LRP4	O75096	p.Gly1257Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875611C>T	NCI-TCGA
LRP4	O75096	p.Leu1261Phe	rs765748906	missense variant	-	NC_000011.10:g.46875600G>A	ExAC,gnomAD
LRP4	O75096	p.Asp1262Ala	rs1302274071	missense variant	-	NC_000011.10:g.46875596T>G	gnomAD
LRP4	O75096	p.Asp1262Asn	rs762687512	missense variant	-	NC_000011.10:g.46875597C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Tyr1264Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875590T>G	NCI-TCGA
LRP4	O75096	p.Ile1265Val	rs145703467	missense variant	-	NC_000011.10:g.46875588T>C	ESP,ExAC,gnomAD
LRP4	O75096	p.Thr1268Ala	COSM269518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875579T>C	NCI-TCGA Cosmic
LRP4	O75096	p.Asp1269Asn	rs1331244003	missense variant	-	NC_000011.10:g.46875576C>T	gnomAD
LRP4	O75096	p.Asp1269ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46875576C>-	NCI-TCGA
LRP4	O75096	p.Trp1270Arg	rs762130726	missense variant	-	NC_000011.10:g.46875573A>T	ExAC,gnomAD
LRP4	O75096	p.Thr1272Ala	rs1335091986	missense variant	-	NC_000011.10:g.46875567T>C	gnomAD
LRP4	O75096	p.Arg1273Trp	rs61746928	missense variant	-	NC_000011.10:g.46875564G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1273Pro	RCV000345358	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875563C>G	ClinVar
LRP4	O75096	p.Arg1273Pro	rs747456405	missense variant	-	NC_000011.10:g.46875563C>G	ExAC,gnomAD
LRP4	O75096	p.Arg1273Gln	rs747456405	missense variant	-	NC_000011.10:g.46875563C>T	ExAC,gnomAD
LRP4	O75096	p.Arg1277His	rs746136135	missense variant	-	NC_000011.10:g.46875551C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1277His	rs746136135	missense variant	Myasthenic syndrome, congenital, 17 (CMS17)	NC_000011.10:g.46875551C>T	UniProt,dbSNP
LRP4	O75096	p.Arg1277His	VAR_073696	missense variant	Myasthenic syndrome, congenital, 17 (CMS17)	NC_000011.10:g.46875551C>T	UniProt
LRP4	O75096	p.Arg1277Cys	rs1379220217	missense variant	-	NC_000011.10:g.46875552G>A	gnomAD
LRP4	O75096	p.Arg1277His	RCV000170321	missense variant	Myasthenic syndrome, congenital, 17 (CMS17)	NC_000011.10:g.46875551C>T	ClinVar
LRP4	O75096	p.Asp1279Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875546C>T	NCI-TCGA
LRP4	O75096	p.Lys1280Arg	rs371205300	missense variant	-	NC_000011.10:g.46875542T>C	TOPMed,gnomAD
LRP4	O75096	p.Lys1280Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875541C>A	NCI-TCGA
LRP4	O75096	p.Gly1281Ala	rs757480962	missense variant	-	NC_000011.10:g.46875539C>G	ExAC,gnomAD
LRP4	O75096	p.Gly1281Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875540C>T	NCI-TCGA
LRP4	O75096	p.Thr1282Pro	rs780961481	missense variant	-	NC_000011.10:g.46875537T>G	ExAC,gnomAD
LRP4	O75096	p.Gly1283Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875533C>T	NCI-TCGA
LRP4	O75096	p.Ser1284Asn	rs754921317	missense variant	-	NC_000011.10:g.46875530C>T	ExAC,gnomAD
LRP4	O75096	p.Asn1285Ser	rs1193536138	missense variant	-	NC_000011.10:g.46875527T>C	TOPMed
LRP4	O75096	p.Val1289Met	rs756641717	missense variant	-	NC_000011.10:g.46875516C>T	ExAC,gnomAD
LRP4	O75096	p.Arg1290Ser	rs1403441683	missense variant	-	NC_000011.10:g.46875511C>A	gnomAD
LRP4	O75096	p.Arg1290Trp	rs1313564880	missense variant	-	NC_000011.10:g.46875513T>A	gnomAD
LRP4	O75096	p.Arg1290Met	rs1395738205	missense variant	-	NC_000011.10:g.46875512C>A	gnomAD
LRP4	O75096	p.Ser1291Phe	rs1462578412	missense variant	-	NC_000011.10:g.46875509G>A	TOPMed
LRP4	O75096	p.Ser1291Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875509G>C	NCI-TCGA
LRP4	O75096	p.Asn1292His	COSM3782629	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875507T>G	NCI-TCGA Cosmic
LRP4	O75096	p.Met1299Val	rs764853604	missense variant	-	NC_000011.10:g.46875486T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met1299Leu	rs764853604	missense variant	-	NC_000011.10:g.46875486T>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Val1302Leu	rs1158682210	missense variant	-	NC_000011.10:g.46875477C>G	gnomAD
LRP4	O75096	p.Asp1303Ala	rs777142871	missense variant	-	NC_000011.10:g.46875473T>G	ExAC,gnomAD
LRP4	O75096	p.Asp1303His	COSM1475459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875474C>G	NCI-TCGA Cosmic
LRP4	O75096	p.Arg1304Trp	rs764499559	missense variant	-	NC_000011.10:g.46875471G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1304Gln	rs139692226	missense variant	-	NC_000011.10:g.46875470C>T	ESP,gnomAD
LRP4	O75096	p.Arg1304Leu	rs139692226	missense variant	-	NC_000011.10:g.46875470C>A	ESP,gnomAD
LRP4	O75096	p.Ala1305Pro	rs761288952	missense variant	-	NC_000011.10:g.46875468C>G	ExAC,gnomAD
LRP4	O75096	p.Gln1306Ter	rs772602277	stop gained	-	NC_000011.10:g.46875465G>A	ExAC,gnomAD
LRP4	O75096	p.Pro1307Ala	rs771126504	missense variant	-	NC_000011.10:g.46875462G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1307Ser	RCV000529893	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875462G>A	ClinVar
LRP4	O75096	p.Pro1307Ser	rs771126504	missense variant	-	NC_000011.10:g.46875462G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1309Asp	rs1029116192	missense variant	-	NC_000011.10:g.46875103C>T	TOPMed
LRP4	O75096	p.Phe1310Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875101A>C	NCI-TCGA
LRP4	O75096	p.Lys1312Glu	rs769980815	missense variant	-	NC_000011.10:g.46875095T>C	ExAC,gnomAD
LRP4	O75096	p.Cys1313Ter	rs779892727	stop gained	-	NC_000011.10:g.46875090G>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1314Ser	rs371961330	missense variant	-	NC_000011.10:g.46875089C>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1315Leu	rs150681693	missense variant	-	NC_000011.10:g.46875085G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1315Leu	RCV000288021	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46875085G>A	ClinVar
LRP4	O75096	p.Ser1315Leu	RCV000734104	missense variant	-	NC_000011.10:g.46875085G>A	ClinVar
LRP4	O75096	p.Arg1316Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875082C>A	NCI-TCGA
LRP4	O75096	p.Gly1319Cys	rs756790038	missense variant	-	NC_000011.10:g.46875074C>A	ExAC,gnomAD
LRP4	O75096	p.Cys1320Tyr	rs891590824	missense variant	-	NC_000011.10:g.46875070C>T	-
LRP4	O75096	p.Ser1321Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46875067G>A	NCI-TCGA
LRP4	O75096	p.His1322Arg	rs755817415	missense variant	-	NC_000011.10:g.46875064T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.His1322Pro	rs755817415	missense variant	-	NC_000011.10:g.46875064T>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.His1322Tyr	rs777618895	missense variant	-	NC_000011.10:g.46875065G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu1323Pro	rs1457579879	missense variant	-	NC_000011.10:g.46875061A>G	gnomAD
LRP4	O75096	p.Leu1325Phe	rs1390699442	missense variant	-	NC_000011.10:g.46875054C>G	TOPMed,gnomAD
LRP4	O75096	p.Arg1327Gln	rs146372809	missense variant	-	NC_000011.10:g.46875049C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1327Gln	RCV000176868	missense variant	-	NC_000011.10:g.46875049C>T	ClinVar
LRP4	O75096	p.Arg1327Trp	rs1259154546	missense variant	-	NC_000011.10:g.46875050G>A	TOPMed,gnomAD
LRP4	O75096	p.Pro1328Ser	COSM4033107	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46875047G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Gly1330Asp	rs1320912124	missense variant	-	NC_000011.10:g.46875040C>T	gnomAD
LRP4	O75096	p.Cys1333Ser	rs529045089	missense variant	-	NC_000011.10:g.46875031C>G	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Cys1333Tyr	rs529045089	missense variant	-	NC_000011.10:g.46875031C>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr1337Ala	rs1398167777	missense variant	-	NC_000011.10:g.46875020T>C	TOPMed
LRP4	O75096	p.Gly1338Asp	rs1453134036	missense variant	-	NC_000011.10:g.46875016C>T	TOPMed,gnomAD
LRP4	O75096	p.Leu1341Met	rs763069536	missense variant	-	NC_000011.10:g.46875008G>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1343Ala	rs142439915	missense variant	-	NC_000011.10:g.46875001C>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1343Glu	rs142439915	missense variant	-	NC_000011.10:g.46875001C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1345Glu	rs561064187	missense variant	-	NC_000011.10:g.46874995C>T	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Asp1349Gly	rs1400266967	missense variant	-	NC_000011.10:g.46874983T>C	gnomAD
LRP4	O75096	p.Pro1352Ser	rs1172217709	missense variant	-	NC_000011.10:g.46874975G>A	gnomAD
LRP4	O75096	p.Thr1354Ser	rs1478395386	missense variant	-	NC_000011.10:g.46874969T>A	gnomAD
LRP4	O75096	p.Ser1359Thr	RCV000598050	missense variant	-	NC_000011.10:g.46874954A>T	ClinVar
LRP4	O75096	p.Ser1359Thr	rs775159238	missense variant	-	NC_000011.10:g.46874954A>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1361His	rs779038341	missense variant	-	NC_000011.10:g.46874947C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1361Gly	rs745826848	missense variant	-	NC_000011.10:g.46874948G>C	ExAC,gnomAD
LRP4	O75096	p.Arg1361Cys	rs745826848	missense variant	-	NC_000011.10:g.46874948G>A	ExAC,gnomAD
LRP4	O75096	p.Gly1362Ser	rs1167183839	missense variant	-	NC_000011.10:g.46874945C>T	gnomAD
LRP4	O75096	p.Arg1365Trp	rs200936217	missense variant	-	NC_000011.10:g.46874936G>A	1000Genomes,TOPMed,gnomAD
LRP4	O75096	p.Arg1365Gln	rs770974209	missense variant	-	NC_000011.10:g.46874935C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1366His	rs777417258	missense variant	-	NC_000011.10:g.46874932C>T	ExAC,gnomAD
LRP4	O75096	p.Arg1366Cys	rs148018749	missense variant	-	NC_000011.10:g.46874933G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile1367Met	rs1274692798	missense variant	-	NC_000011.10:g.46874928G>C	TOPMed
LRP4	O75096	p.Ser1368Pro	RCV000687542	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46874927A>G	ClinVar
LRP4	O75096	p.Leu1369Met	rs1466671098	missense variant	-	NC_000011.10:g.46874924G>T	gnomAD
LRP4	O75096	p.Asp1373Glu	rs564922097	missense variant	-	NC_000011.10:g.46874910G>C	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1373Gly	rs752338560	missense variant	-	NC_000011.10:g.46874911T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr1375Ser	rs755409076	missense variant	-	NC_000011.10:g.46874906T>A	ExAC,gnomAD
LRP4	O75096	p.Thr1375Ile	rs1339727277	missense variant	-	NC_000011.10:g.46874905G>A	gnomAD
LRP4	O75096	p.Asp1376Asn	rs545724648	missense variant	-	NC_000011.10:g.46874903C>T	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.His1378Gln	rs763442262	missense variant	-	NC_000011.10:g.46874895A>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.His1378Pro	rs766928334	missense variant	-	NC_000011.10:g.46874896T>G	ExAC,gnomAD
LRP4	O75096	p.Pro1382Ser	rs765240067	missense variant	-	NC_000011.10:g.46874885G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1382Ala	rs765240067	missense variant	-	NC_000011.10:g.46874885G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu1383Ala	rs202151304	missense variant	-	NC_000011.10:g.46874881T>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu1383Gly	rs202151304	missense variant	-	NC_000011.10:g.46874881T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1385Ser	rs768733310	missense variant	-	NC_000011.10:g.46874875T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1386Ser	rs1293379752	missense variant	-	NC_000011.10:g.46874872T>C	TOPMed
LRP4	O75096	p.Val1387Ala	rs1237313579	missense variant	-	NC_000011.10:g.46874869A>G	gnomAD
LRP4	O75096	p.Val1395Met	rs774275092	missense variant	-	NC_000011.10:g.46874846C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1396His	rs1283472991	missense variant	-	NC_000011.10:g.46874843C>G	gnomAD
LRP4	O75096	p.Asp1396Asn	rs1283472991	missense variant	-	NC_000011.10:g.46874843C>T	gnomAD
LRP4	O75096	p.Val1399Ile	rs1353805030	missense variant	-	NC_000011.10:g.46874834C>T	gnomAD
LRP4	O75096	p.Tyr1400Cys	rs1288073643	missense variant	-	NC_000011.10:g.46874830T>C	gnomAD
LRP4	O75096	p.Thr1402Arg	rs749173410	missense variant	-	NC_000011.10:g.46874824G>C	ExAC,gnomAD
LRP4	O75096	p.Val1404Leu	rs777440860	missense variant	-	NC_000011.10:g.46874819C>A	ExAC,gnomAD
LRP4	O75096	p.Asp1407Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46874810C>T	NCI-TCGA
LRP4	O75096	p.Val1408Ile	rs777975583	missense variant	-	NC_000011.10:g.46874807C>T	ExAC,gnomAD
LRP4	O75096	p.Ile1409Met	COSM4822521	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46874802G>C	NCI-TCGA Cosmic
LRP4	O75096	p.Arg1410Ser	rs1398452708	missense variant	-	NC_000011.10:g.46873593C>G	TOPMed
LRP4	O75096	p.Arg1411Gln	rs963817724	missense variant	-	NC_000011.10:g.46873591C>T	TOPMed
LRP4	O75096	p.Arg1411Ter	rs1276522994	stop gained	-	NC_000011.10:g.46873592G>A	gnomAD
LRP4	O75096	p.Asp1413Glu	rs768356381	missense variant	-	NC_000011.10:g.46873584G>C	ExAC,gnomAD
LRP4	O75096	p.Asp1413Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46873586C>A	NCI-TCGA
LRP4	O75096	p.Gly1416Ser	rs780415835	missense variant	-	NC_000011.10:g.46873577C>T	ExAC,gnomAD
LRP4	O75096	p.Ser1417Asn	rs758719937	missense variant	-	NC_000011.10:g.46873573C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1418Ser	rs1324792400	missense variant	-	NC_000011.10:g.46873570T>C	gnomAD
LRP4	O75096	p.Met1419Thr	rs1382927455	missense variant	-	NC_000011.10:g.46873567A>G	gnomAD
LRP4	O75096	p.Met1419Ile	rs757695501	missense variant	-	NC_000011.10:g.46873566C>T	ExAC,gnomAD
LRP4	O75096	p.Met1419Val	rs779526693	missense variant	-	NC_000011.10:g.46873568T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Glu1420Lys	rs754016931	missense variant	-	NC_000011.10:g.46873565C>T	ExAC,gnomAD
LRP4	O75096	p.Gly1424Arg	rs1026948492	missense variant	-	NC_000011.10:g.46873553C>T	TOPMed,gnomAD
LRP4	O75096	p.Gly1424Glu	rs1306624878	missense variant	-	NC_000011.10:g.46873552C>T	TOPMed
LRP4	O75096	p.Gly1424Arg	COSM3986184	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873553C>G	NCI-TCGA Cosmic
LRP4	O75096	p.Arg1425Gln	RCV000794293	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873549C>T	ClinVar
LRP4	O75096	p.Arg1425Gln	rs143444937	missense variant	-	NC_000011.10:g.46873549C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1425Gln	RCV000327975	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873549C>T	ClinVar
LRP4	O75096	p.Arg1425Ter	rs1247207663	stop gained	-	NC_000011.10:g.46873550G>A	gnomAD
LRP4	O75096	p.Leu1433Met	COSM4033105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873526G>T	NCI-TCGA Cosmic
LRP4	O75096	p.Trp1437Ser	rs149232762	missense variant	-	NC_000011.10:g.46873513C>G	ESP,ExAC,gnomAD
LRP4	O75096	p.Asn1441Ser	RCV000376983	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873501T>C	ClinVar
LRP4	O75096	p.Asn1441Ser	rs886048350	missense variant	-	NC_000011.10:g.46873501T>C	gnomAD
LRP4	O75096	p.Leu1442Val	rs761584807	missense variant	-	NC_000011.10:g.46873499G>C	ExAC,gnomAD
LRP4	O75096	p.Arg1449Gln	rs1023291119	missense variant	-	NC_000011.10:g.46873477C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg1449Leu	rs1023291119	missense variant	-	NC_000011.10:g.46873477C>A	TOPMed,gnomAD
LRP4	O75096	p.Arg1449Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.46873478G>A	NCI-TCGA
LRP4	O75096	p.Asn1450Asp	rs1331039955	missense variant	-	NC_000011.10:g.46873475T>C	TOPMed,gnomAD
LRP4	O75096	p.Asn1450Ser	rs771361350	missense variant	-	NC_000011.10:g.46873474T>C	gnomAD
LRP4	O75096	p.Thr1451Ile	rs1259111564	missense variant	-	NC_000011.10:g.46873471G>A	gnomAD
LRP4	O75096	p.Ala1454Val	rs746692504	missense variant	-	NC_000011.10:g.46873462G>A	ExAC,gnomAD
LRP4	O75096	p.Leu1457Val	rs571418643	missense variant	-	NC_000011.10:g.46873454G>C	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Asp1458Gly	rs771474604	missense variant	-	NC_000011.10:g.46873450T>C	ExAC,gnomAD
LRP4	O75096	p.Ser1460Phe	rs61738061	missense variant	-	NC_000011.10:g.46873444G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1462Cys	rs1237519566	missense variant	-	NC_000011.10:g.46873439G>A	TOPMed,gnomAD
LRP4	O75096	p.Arg1462His	rs777932389	missense variant	-	NC_000011.10:g.46873438C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Lys1463Arg	rs756223904	missense variant	-	NC_000011.10:g.46873435T>C	ExAC,gnomAD
LRP4	O75096	p.Val1464Ala	rs1253293777	missense variant	-	NC_000011.10:g.46873432A>G	gnomAD
LRP4	O75096	p.Ile1466Phe	rs1208354844	missense variant	-	NC_000011.10:g.46873427T>A	gnomAD
LRP4	O75096	p.Ile1466Thr	rs1311656499	missense variant	-	NC_000011.10:g.46873426A>G	gnomAD
LRP4	O75096	p.Asn1467Ser	rs886048349	missense variant	-	NC_000011.10:g.46873423T>C	gnomAD
LRP4	O75096	p.Asn1467Ser	RCV000324709	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873423T>C	ClinVar
LRP4	O75096	p.Ser1469Asn	rs1375253617	missense variant	-	NC_000011.10:g.46873417C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg1474Trp	rs755247209	missense variant	-	NC_000011.10:g.46873403G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1474Gln	rs750236429	missense variant	-	NC_000011.10:g.46873402C>T	ExAC,gnomAD
LRP4	O75096	p.Ala1475Gly	rs1314468807	missense variant	-	NC_000011.10:g.46873399G>C	TOPMed
LRP4	O75096	p.Ala1475Thr	COSM429041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873400C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Val1478Leu	rs764880010	missense variant	-	NC_000011.10:g.46873391C>G	ExAC
LRP4	O75096	p.Pro1480Ser	rs761829277	missense variant	-	NC_000011.10:g.46873385G>A	ExAC,gnomAD
LRP4	O75096	p.Arg1481Lys	rs1174922081	missense variant	-	NC_000011.10:g.46873381C>T	gnomAD
LRP4	O75096	p.Gly1483Val	rs764059292	missense variant	-	NC_000011.10:g.46873375C>A	ExAC,gnomAD
LRP4	O75096	p.Gly1491Asp	rs755261385	missense variant	-	NC_000011.10:g.46873211C>T	ExAC,gnomAD
LRP4	O75096	p.Ile1493Asn	rs1451422777	missense variant	-	NC_000011.10:g.46873205A>T	TOPMed
LRP4	O75096	p.Ile1493Leu	rs751679601	missense variant	-	NC_000011.10:g.46873206T>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile1493Val	rs751679601	missense variant	-	NC_000011.10:g.46873206T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile1496Val	rs778796865	missense variant	-	NC_000011.10:g.46873197T>C	ExAC,gnomAD
LRP4	O75096	p.Glu1497Ala	rs753647067	missense variant	-	NC_000011.10:g.46873193T>G	ExAC
LRP4	O75096	p.Glu1497Lys	rs757039930	missense variant	-	NC_000011.10:g.46873194C>T	ExAC,gnomAD
LRP4	O75096	p.Glu1497Gln	rs757039930	missense variant	-	NC_000011.10:g.46873194C>G	ExAC,gnomAD
LRP4	O75096	p.Arg1498ProGlyLeuAlaLysLysIleLeuSerGlyPheThrTerTerTerSerLeuUnk	rs761368629	stop gained	-	NC_000011.10:g.46873190_46873191insAAAGACTATCATTAAGTAAAACCAGATAAAATCTTTTTGGCTAGGCCAG	ExAC
LRP4	O75096	p.Arg1498Gln	RCV000559331	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873190C>T	ClinVar
LRP4	O75096	p.Arg1498Gln	rs764079526	missense variant	-	NC_000011.10:g.46873190C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1498Trp	rs1431817175	missense variant	-	NC_000011.10:g.46873191G>A	gnomAD
LRP4	O75096	p.Asn1500Lys	rs369665635	missense variant	-	NC_000011.10:g.46873183G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu1501Phe	rs375220795	missense variant	-	NC_000011.10:g.46873180C>G	ESP,ExAC,gnomAD
LRP4	O75096	p.Leu1501Phe	RCV000523365	missense variant	-	NC_000011.10:g.46873180C>G	ClinVar
LRP4	O75096	p.Asp1502Ala	rs200506943	missense variant	-	NC_000011.10:g.46873178T>G	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1502Ala	RCV000537634	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46873178T>G	ClinVar
LRP4	O75096	p.Ser1504Phe	RCV000722490	missense variant	-	NC_000011.10:g.46873172G>A	ClinVar
LRP4	O75096	p.Ser1504LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46873172G>-	NCI-TCGA
LRP4	O75096	p.Glu1505Gln	rs1257825434	missense variant	-	NC_000011.10:g.46873170C>G	TOPMed
LRP4	O75096	p.Arg1506Trp	rs766025454	missense variant	-	NC_000011.10:g.46873167G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1506Gln	rs142300637	missense variant	-	NC_000011.10:g.46873166C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Lys1507Arg	rs748607012	missense variant	-	NC_000011.10:g.46873163T>C	ExAC,gnomAD
LRP4	O75096	p.Asn1511His	rs776868704	missense variant	-	NC_000011.10:g.46873152T>G	ExAC,gnomAD
LRP4	O75096	p.Thr1512Arg	rs768813159	missense variant	-	NC_000011.10:g.46873148G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr1512Ile	rs768813159	missense variant	-	NC_000011.10:g.46873148G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1513Tyr	COSM6068716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873146C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Gly1515Ala	rs758635404	missense variant	-	NC_000011.10:g.46873139C>G	ExAC,gnomAD
LRP4	O75096	p.Asn1518Asp	rs749107931	missense variant	-	NC_000011.10:g.46873131T>C	ExAC,gnomAD
LRP4	O75096	p.Gly1519Asp	rs1407907893	missense variant	-	NC_000011.10:g.46873127C>T	TOPMed
LRP4	O75096	p.Leu1520Phe	rs915850062	missense variant	-	NC_000011.10:g.46873125G>A	gnomAD
LRP4	O75096	p.Thr1521Ile	rs777480654	missense variant	-	NC_000011.10:g.46873121G>A	ExAC,gnomAD
LRP4	O75096	p.Asp1525His	COSM1135185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46873110C>G	NCI-TCGA Cosmic
LRP4	O75096	p.Asp1525Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46873110C>T	NCI-TCGA
LRP4	O75096	p.Arg1527Cys	rs756059712	missense variant	-	NC_000011.10:g.46873104G>A	ExAC,gnomAD
LRP4	O75096	p.Arg1527His	rs752582587	missense variant	-	NC_000011.10:g.46873103C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Trp1531Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46871624C>A	NCI-TCGA
LRP4	O75096	p.Val1532Leu	rs147609642	missense variant	-	NC_000011.10:g.46871623C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1533Gly	rs1168782671	missense variant	-	NC_000011.10:g.46871619T>C	gnomAD
LRP4	O75096	p.Ala1534Val	rs755863702	missense variant	-	NC_000011.10:g.46871616G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ala1534Thr	COSM71483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46871617C>T	NCI-TCGA Cosmic
LRP4	O75096	p.His1535Arg	rs754937150	missense variant	-	NC_000011.10:g.46871613T>C	ExAC,gnomAD
LRP4	O75096	p.Arg1538Trp	rs146993399	missense variant	-	NC_000011.10:g.46871605G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1538Gln	rs140495790	missense variant	-	NC_000011.10:g.46871604C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1538Gln	RCV000354293	missense variant	Bone Mineral Density Variation	NC_000011.10:g.46871604C>T	ClinVar
LRP4	O75096	p.Glu1540Lys	rs1273248784	missense variant	-	NC_000011.10:g.46871599C>T	gnomAD
LRP4	O75096	p.Glu1540Ter	COSM1321672	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46871599C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Glu1540Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46871597C>G	NCI-TCGA
LRP4	O75096	p.Ser1541Asn	rs1197230763	missense variant	-	NC_000011.10:g.46871595C>T	gnomAD
LRP4	O75096	p.Ala1542Gly	rs1342214923	missense variant	-	NC_000011.10:g.46871592G>C	gnomAD
LRP4	O75096	p.Asp1543Asn	rs1248400817	missense variant	-	NC_000011.10:g.46871590C>T	TOPMed
LRP4	O75096	p.Asp1543Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46871588G>T	NCI-TCGA
LRP4	O75096	p.Asn1545Ser	rs142352845	missense variant	-	NC_000011.10:g.46871583T>C	ESP,TOPMed,gnomAD
LRP4	O75096	p.Gly1546Glu	rs1373017728	missense variant	-	NC_000011.10:g.46871580C>T	gnomAD
LRP4	O75096	p.Arg1549Gln	RCV000821968	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46871571C>T	ClinVar
LRP4	O75096	p.Arg1549Gln	RCV000315876	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46871571C>T	ClinVar
LRP4	O75096	p.Arg1549Trp	rs764949031	missense variant	-	NC_000011.10:g.46871572G>A	ExAC,gnomAD
LRP4	O75096	p.Arg1549Gln	rs886048348	missense variant	-	NC_000011.10:g.46871571C>T	gnomAD
LRP4	O75096	p.Gln1550Glu	rs1393399321	missense variant	-	NC_000011.10:g.46871569G>C	gnomAD
LRP4	O75096	p.Val1551Gly	rs201083257	missense variant	-	NC_000011.10:g.46871565A>C	ExAC,gnomAD
LRP4	O75096	p.Ser1554Cys	rs2306029	missense variant	-	NC_000011.10:g.46871557T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1554Gly	rs2306029	missense variant	-	NC_000011.10:g.46871557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1554Gly	rs2306029	missense variant	-	NC_000011.10:g.46871557T>C	UniProt,dbSNP
LRP4	O75096	p.Ser1554Gly	VAR_057956	missense variant	-	NC_000011.10:g.46871557T>C	UniProt
LRP4	O75096	p.Ser1554Gly	RCV000262910	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46871557T>C	ClinVar
LRP4	O75096	p.Pro1559Leu	rs1157441585	missense variant	-	NC_000011.10:g.46871541G>A	TOPMed,gnomAD
LRP4	O75096	p.Thr1563Ala	rs1395051241	missense variant	-	NC_000011.10:g.46871530T>C	TOPMed
LRP4	O75096	p.Gln1564Arg	COSM688014	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46871526T>C	NCI-TCGA Cosmic
LRP4	O75096	p.Arg1567Trp	rs199747378	missense variant	-	NC_000011.10:g.46869126T>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1567Met	rs1428019848	missense variant	-	NC_000011.10:g.46869125C>A	gnomAD
LRP4	O75096	p.Trp1568Ser	rs761112628	missense variant	-	NC_000011.10:g.46869122C>G	ExAC,gnomAD
LRP4	O75096	p.Trp1568Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.46869121C>T	NCI-TCGA
LRP4	O75096	p.Ile1569Thr	rs1196625449	missense variant	-	NC_000011.10:g.46869119A>G	gnomAD
LRP4	O75096	p.Tyr1570Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46869116T>C	NCI-TCGA
LRP4	O75096	p.Trp1574Arg	rs1486355201	missense variant	-	NC_000011.10:g.46869105A>G	gnomAD
LRP4	O75096	p.Lys1577Asn	rs759662512	missense variant	-	NC_000011.10:g.46869094C>G	ExAC,gnomAD
LRP4	O75096	p.Ile1579Val	rs1447465345	missense variant	-	NC_000011.10:g.46869090T>C	TOPMed,gnomAD
LRP4	O75096	p.Gln1580Lys	rs958154316	missense variant	-	NC_000011.10:g.46869087G>T	gnomAD
LRP4	O75096	p.Gln1580Arg	rs1180896686	missense variant	-	NC_000011.10:g.46869086T>C	TOPMed,gnomAD
LRP4	O75096	p.Arg1581Cys	rs771144609	missense variant	-	NC_000011.10:g.46869084G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1581His	rs1355465373	missense variant	-	NC_000011.10:g.46869083C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg1581Leu	rs1355465373	missense variant	-	NC_000011.10:g.46869083C>A	TOPMed,gnomAD
LRP4	O75096	p.Asp1583Asn	COSM1298078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46869078C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Gly1587Asp	rs1234172726	missense variant	-	NC_000011.10:g.46869065C>T	gnomAD
LRP4	O75096	p.Arg1588Gln	rs746746234	missense variant	-	NC_000011.10:g.46869062C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1588Gly	rs546318025	missense variant	-	NC_000011.10:g.46869063G>C	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1588Trp	rs546318025	missense variant	-	NC_000011.10:g.46869063G>A	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1589Lys	rs1346806071	missense variant	-	NC_000011.10:g.46869058G>C	TOPMed
LRP4	O75096	p.Asn1589Ser	COSM117682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46869059T>C	NCI-TCGA Cosmic
LRP4	O75096	p.Ala1595Thr	rs1277754891	missense variant	-	NC_000011.10:g.46869042C>T	TOPMed
LRP4	O75096	p.Val1597Leu	rs771887234	missense variant	-	NC_000011.10:g.46869036C>G	ExAC,gnomAD
LRP4	O75096	p.Met1601Val	rs1485417300	missense variant	-	NC_000011.10:g.46869024T>C	TOPMed
LRP4	O75096	p.Asp1602Asn	COSM927330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46869021C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Ile1603Val	rs147688807	missense variant	-	NC_000011.10:g.46869018T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile1604Thr	rs756986432	missense variant	-	NC_000011.10:g.46869014A>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1608Ser	rs778034069	missense variant	-	NC_000011.10:g.46869003G>A	ExAC,gnomAD
LRP4	O75096	p.Arg1610Gln	rs756543033	missense variant	-	NC_000011.10:g.46868996C>T	ExAC,gnomAD
LRP4	O75096	p.Arg1610Trp	rs1322703272	missense variant	-	NC_000011.10:g.46868997G>A	gnomAD
LRP4	O75096	p.Arg1610Leu	rs756543033	missense variant	-	NC_000011.10:g.46868996C>A	ExAC,gnomAD
LRP4	O75096	p.Gln1611Lys	rs185325829	missense variant	-	NC_000011.10:g.46868994G>T	1000Genomes
LRP4	O75096	p.Asn1615Ser	rs1195193893	missense variant	-	NC_000011.10:g.46868707T>C	gnomAD
LRP4	O75096	p.Cys1617Arg	rs777534564	missense variant	-	NC_000011.10:g.46868702A>G	ExAC,gnomAD
LRP4	O75096	p.Cys1617Gly	rs777534564	missense variant	-	NC_000011.10:g.46868702A>C	ExAC,gnomAD
LRP4	O75096	p.Val1619Met	rs1308122736	missense variant	-	NC_000011.10:g.46868696C>T	TOPMed,gnomAD
LRP4	O75096	p.Asn1621Asp	rs567251271	missense variant	-	NC_000011.10:g.46868690T>C	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1621Ser	rs748615526	missense variant	-	NC_000011.10:g.46868689T>C	ExAC
LRP4	O75096	p.Thr1625Ile	rs1408004717	missense variant	-	NC_000011.10:g.46868677G>A	gnomAD
LRP4	O75096	p.Cys1628Trp	rs1347726055	missense variant	-	NC_000011.10:g.46868667G>C	gnomAD
LRP4	O75096	p.Ala1630Val	rs1304821330	missense variant	-	NC_000011.10:g.46868662G>A	gnomAD
LRP4	O75096	p.Ser1633Leu	rs146362081	missense variant	-	NC_000011.10:g.46868653G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1633Leu	RCV000521557	missense variant	-	NC_000011.10:g.46868653G>A	ClinVar
LRP4	O75096	p.Asp1634Asn	rs944046413	missense variant	-	NC_000011.10:g.46868651C>T	TOPMed,gnomAD
LRP4	O75096	p.Val1636Leu	rs368124164	missense variant	-	NC_000011.10:g.46868645C>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Val1636Ile	rs368124164	missense variant	-	NC_000011.10:g.46868645C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Cys1637Tyr	rs1259523978	missense variant	-	NC_000011.10:g.46868641C>T	TOPMed
LRP4	O75096	p.Glu1642Lys	rs775370217	missense variant	-	NC_000011.10:g.46868627C>T	ExAC,gnomAD
LRP4	O75096	p.Pro1643Arg	rs767372563	missense variant	-	NC_000011.10:g.46868623G>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1643Leu	rs767372563	missense variant	-	NC_000011.10:g.46868623G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1643Leu	RCV000370312	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46868623G>A	ClinVar
LRP4	O75096	p.Asp1644His	rs192480207	missense variant	-	NC_000011.10:g.46868621C>G	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Arg1646Leu	rs3816614	missense variant	-	NC_000011.10:g.46868614C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1646Gln	rs3816614	missense variant	-	NC_000011.10:g.46868614C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1646Gln	RCV000313366	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46868614C>T	ClinVar
LRP4	O75096	p.Arg1646Trp	rs141213903	missense variant	-	NC_000011.10:g.46868615G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Pro1647Leu	rs772595373	missense variant	-	NC_000011.10:g.46868611G>A	ExAC,gnomAD
LRP4	O75096	p.Cys1648Ser	rs769497270	missense variant	-	NC_000011.10:g.46868608C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Cys1648Phe	rs769497270	missense variant	-	NC_000011.10:g.46868608C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu1650Phe	rs1344586872	missense variant	-	NC_000011.10:g.46868603G>A	TOPMed
LRP4	O75096	p.Val1651Leu	rs374843047	missense variant	-	NC_000011.10:g.46868600C>A	ESP,ExAC,gnomAD
LRP4	O75096	p.Pro1652Ala	rs372878354	missense variant	-	NC_000011.10:g.46868112G>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1653Ser	rs1310106860	missense variant	-	NC_000011.10:g.46868109C>T	gnomAD
LRP4	O75096	p.Val1655Leu	rs1232340981	missense variant	-	NC_000011.10:g.46868103C>A	gnomAD
LRP4	O75096	p.Pro1656Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46868099G>A	NCI-TCGA
LRP4	O75096	p.Pro1657Ser	rs1355733188	missense variant	-	NC_000011.10:g.46868097G>A	TOPMed,gnomAD
LRP4	O75096	p.Pro1657Ala	rs1355733188	missense variant	-	NC_000011.10:g.46868097G>C	TOPMed,gnomAD
LRP4	O75096	p.Ala1658Pro	rs1167322838	missense variant	-	NC_000011.10:g.46868094C>G	TOPMed
LRP4	O75096	p.Pro1659Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46868091G>T	NCI-TCGA
LRP4	O75096	p.Pro1659His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46868090G>T	NCI-TCGA
LRP4	O75096	p.Ala1661Thr	rs768284053	missense variant	-	NC_000011.10:g.46868085C>T	ExAC,gnomAD
LRP4	O75096	p.Ala1661Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46868084G>A	NCI-TCGA
LRP4	O75096	p.Thr1662Ser	rs1384073340	missense variant	-	NC_000011.10:g.46868081G>C	gnomAD
LRP4	O75096	p.Met1664Lys	rs747440221	missense variant	-	NC_000011.10:g.46868075A>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met1664Val	rs1455143794	missense variant	-	NC_000011.10:g.46868076T>C	gnomAD
LRP4	O75096	p.Met1664Val	RCV000690106	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46868076T>C	ClinVar
LRP4	O75096	p.Pro1672Ser	rs567312813	missense variant	-	NC_000011.10:g.46868052G>A	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Asn1673Ser	rs1190070901	missense variant	-	NC_000011.10:g.46868048T>C	TOPMed,gnomAD
LRP4	O75096	p.Thr1678Ile	rs1269098201	missense variant	-	NC_000011.10:g.46868033G>A	TOPMed
LRP4	O75096	p.Tyr1680Phe	rs779082849	missense variant	-	NC_000011.10:g.46868027T>A	ExAC,gnomAD
LRP4	O75096	p.Ser1681Tyr	COSM927328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46868024G>T	NCI-TCGA Cosmic
LRP4	O75096	p.Arg1685Leu	rs138238230	missense variant	-	NC_000011.10:g.46868012C>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1685Trp	rs143717815	missense variant	-	NC_000011.10:g.46868013G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1685Gln	rs138238230	missense variant	-	NC_000011.10:g.46868012C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1685Gln	RCV000551609	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46868012C>T	ClinVar
LRP4	O75096	p.Arg1685Gln	RCV000591887	missense variant	-	NC_000011.10:g.46868012C>T	ClinVar
LRP4	O75096	p.Arg1687His	rs751407728	missense variant	-	NC_000011.10:g.46868006C>T	ExAC,gnomAD
LRP4	O75096	p.Arg1687Cys	rs756403884	missense variant	-	NC_000011.10:g.46868007G>A	ExAC,gnomAD
LRP4	O75096	p.Thr1688Met	rs766225540	missense variant	-	NC_000011.10:g.46868003G>A	ExAC,gnomAD
LRP4	O75096	p.Glu1691Lys	rs528376810	missense variant	-	NC_000011.10:g.46867995C>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Cys1697Tyr	rs1302658815	missense variant	-	NC_000011.10:g.46865184C>T	gnomAD
LRP4	O75096	p.Asp1701Asn	rs1241649761	missense variant	-	NC_000011.10:g.46865173C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg1703Ser	rs1441344633	missense variant	-	NC_000011.10:g.46865165C>A	gnomAD
LRP4	O75096	p.Gly1705Asp	rs898009585	missense variant	-	NC_000011.10:g.46865160C>T	TOPMed,gnomAD
LRP4	O75096	p.Leu1706Phe	rs1389849334	missense variant	-	NC_000011.10:g.46865158G>A	gnomAD
LRP4	O75096	p.Cys1707Tyr	rs756420222	missense variant	-	NC_000011.10:g.46865154C>T	ExAC,gnomAD
LRP4	O75096	p.Arg1709Leu	rs560103351	missense variant	-	NC_000011.10:g.46865148C>A	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1709Cys	rs748338944	missense variant	-	NC_000011.10:g.46865149G>A	ExAC,gnomAD
LRP4	O75096	p.Arg1709Pro	rs560103351	missense variant	-	NC_000011.10:g.46865148C>G	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1709His	rs560103351	missense variant	-	NC_000011.10:g.46865148C>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1711Ser	rs774058346	missense variant	-	NC_000011.10:g.46865142T>C	TOPMed,gnomAD
LRP4	O75096	p.Asn1711Asp	rs958363854	missense variant	-	NC_000011.10:g.46865143T>C	TOPMed
LRP4	O75096	p.Ala1713Thr	rs549668261	missense variant	-	NC_000011.10:g.46865137C>T	1000Genomes,gnomAD
LRP4	O75096	p.Ala1713Val	rs1035754612	missense variant	-	NC_000011.10:g.46865136G>A	TOPMed,gnomAD
LRP4	O75096	p.Val1714Leu	rs1002830453	missense variant	-	NC_000011.10:g.46865134C>G	TOPMed,gnomAD
LRP4	O75096	p.Val1714Ile	rs1002830453	missense variant	-	NC_000011.10:g.46865134C>T	TOPMed,gnomAD
LRP4	O75096	p.Pro1715Ser	rs1197029056	missense variant	-	NC_000011.10:g.46865131G>A	gnomAD
LRP4	O75096	p.Pro1718Leu	rs1036603029	missense variant	-	NC_000011.10:g.46865121G>A	TOPMed
LRP4	O75096	p.Gly1719Glu	rs755223289	missense variant	-	NC_000011.10:g.46864535C>T	ExAC,gnomAD
LRP4	O75096	p.Gly1721Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.46864530C>A	NCI-TCGA
LRP4	O75096	p.Leu1722His	rs117936904	missense variant	-	NC_000011.10:g.46864526A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu1722His	RCV000536860	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46864526A>T	ClinVar
LRP4	O75096	p.His1723Tyr	rs778710722	missense variant	-	NC_000011.10:g.46864524G>A	ExAC,gnomAD
LRP4	O75096	p.His1723Arg	rs757207852	missense variant	-	NC_000011.10:g.46864523T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile1724Thr	rs753737131	missense variant	-	NC_000011.10:g.46864520A>G	ExAC,gnomAD
LRP4	O75096	p.Ala1727Thr	rs914781633	missense variant	-	NC_000011.10:g.46864512C>T	TOPMed,gnomAD
LRP4	O75096	p.Ala1727Gly	rs755670839	missense variant	-	NC_000011.10:g.46864511G>C	ExAC,gnomAD
LRP4	O75096	p.Ile1728Val	rs148865136	missense variant	-	NC_000011.10:g.46864509T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile1728Val	RCV000357498	missense variant	-	NC_000011.10:g.46864509T>C	ClinVar
LRP4	O75096	p.Ile1728Thr	rs767146257	missense variant	-	NC_000011.10:g.46864508A>G	ExAC,gnomAD
LRP4	O75096	p.Ile1728Val	RCV000525905	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46864509T>C	ClinVar
LRP4	O75096	p.Gly1729Ala	rs367608390	missense variant	-	NC_000011.10:g.46864505C>G	ESP,TOPMed,gnomAD
LRP4	O75096	p.Leu1731Phe	rs759166068	missense variant	-	NC_000011.10:g.46864500G>A	ExAC,gnomAD
LRP4	O75096	p.Leu1732Phe	rs1447336134	missense variant	-	NC_000011.10:g.46864497G>A	gnomAD
LRP4	O75096	p.Leu1732Phe	RCV000690648	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46864497G>A	ClinVar
LRP4	O75096	p.Ile1737Thr	rs1363513279	missense variant	-	NC_000011.10:g.46864481A>G	gnomAD
LRP4	O75096	p.Leu1738Val	rs1172246708	missense variant	-	NC_000011.10:g.46864479A>C	gnomAD
LRP4	O75096	p.Leu1738Phe	rs774595249	missense variant	-	NC_000011.10:g.46864477C>A	ExAC,gnomAD
LRP4	O75096	p.Val1740Ala	rs766720735	missense variant	-	NC_000011.10:g.46864472A>G	ExAC,gnomAD
LRP4	O75096	p.Ile1741Leu	rs763376596	missense variant	-	NC_000011.10:g.46864470T>G	ExAC,gnomAD
LRP4	O75096	p.Ile1741Thr	rs773902775	missense variant	-	NC_000011.10:g.46864469A>G	ExAC,gnomAD
LRP4	O75096	p.Ala1742Glu	rs770406349	missense variant	-	NC_000011.10:g.46864466G>T	ExAC,gnomAD
LRP4	O75096	p.Ala1743Thr	rs748302083	missense variant	-	NC_000011.10:g.46864464C>T	ExAC
LRP4	O75096	p.Met1745Thr	rs776705313	missense variant	-	NC_000011.10:g.46864457A>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu1746Arg	rs1268900104	missense variant	-	NC_000011.10:g.46864454A>C	gnomAD
LRP4	O75096	p.Tyr1747Ter	rs1320624933	stop gained	-	NC_000011.10:g.46864450G>T	gnomAD
LRP4	O75096	p.Lys1753Asn	rs1489554331	missense variant	-	NC_000011.10:g.46862732C>A	gnomAD
LRP4	O75096	p.Lys1753Gln	rs777480637	missense variant	-	NC_000011.10:g.46862734T>G	ExAC,gnomAD
LRP4	O75096	p.Lys1753Arg	COSM4033100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46862733T>C	NCI-TCGA Cosmic
LRP4	O75096	p.Lys1753Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46862733T>G	NCI-TCGA
LRP4	O75096	p.Thr1755Ser	rs769740360	missense variant	-	NC_000011.10:g.46862727G>C	ExAC,gnomAD
LRP4	O75096	p.Asp1756Asn	rs1182043724	missense variant	-	NC_000011.10:g.46862725C>T	TOPMed
LRP4	O75096	p.Met1759Leu	rs1242777417	missense variant	-	NC_000011.10:g.46862716T>A	TOPMed
LRP4	O75096	p.Gly1760Ala	rs780600793	missense variant	-	NC_000011.10:g.46862712C>G	ExAC,gnomAD
LRP4	O75096	p.Tyr1764Cys	rs1419829426	missense variant	-	NC_000011.10:g.46862700T>C	TOPMed
LRP4	O75096	p.Ser1768IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.46862689_46862690insT	NCI-TCGA
LRP4	O75096	p.Arg1770Gln	rs150211735	missense variant	-	NC_000011.10:g.46862682C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1770Ter	rs751018057	stop gained	-	NC_000011.10:g.46862683G>A	ExAC,gnomAD
LRP4	O75096	p.Thr1771Lys	rs758054645	missense variant	-	NC_000011.10:g.46862679G>T	ExAC,gnomAD
LRP4	O75096	p.Gln1774Arg	rs762257054	missense variant	-	NC_000011.10:g.46862670T>C	ExAC,gnomAD
LRP4	O75096	p.Gln1774Lys	rs1362370941	missense variant	-	NC_000011.10:g.46862671G>T	TOPMed
LRP4	O75096	p.Glu1775Gln	rs754407389	missense variant	-	NC_000011.10:g.46862668C>G	ExAC,gnomAD
LRP4	O75096	p.Val1776Leu	rs1453731610	missense variant	-	NC_000011.10:g.46862665C>A	TOPMed
LRP4	O75096	p.Val1776Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46862664A>T	NCI-TCGA
LRP4	O75096	p.Lys1777Thr	RCV000343970	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46862661T>G	ClinVar
LRP4	O75096	p.Lys1777Thr	rs541585714	missense variant	-	NC_000011.10:g.46862661T>G	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ile1778Ser	rs1376005192	missense variant	-	NC_000011.10:g.46862658A>C	gnomAD
LRP4	O75096	p.Ile1778Phe	rs1407744209	missense variant	-	NC_000011.10:g.46862659T>A	TOPMed
LRP4	O75096	p.Glu1779Lys	COSM927326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46862656C>T	NCI-TCGA Cosmic
LRP4	O75096	p.Ile1781Val	rs1177885758	missense variant	-	NC_000011.10:g.46862650T>C	gnomAD
LRP4	O75096	p.Ile1781Thr	rs1417153260	missense variant	-	NC_000011.10:g.46862649A>G	gnomAD
LRP4	O75096	p.Pro1782Ser	COSM3447714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.46862647G>A	NCI-TCGA Cosmic
LRP4	O75096	p.Lys1783Asn	rs572574091	missense variant	-	NC_000011.10:g.46862642T>G	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Met1786Lys	rs61748876	missense variant	-	NC_000011.10:g.46862634A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met1786Thr	rs61748876	missense variant	-	NC_000011.10:g.46862634A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Met1786Lys	RCV000643986	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46862634A>T	ClinVar
LRP4	O75096	p.Met1786Lys	RCV000177906	missense variant	-	NC_000011.10:g.46862634A>T	ClinVar
LRP4	O75096	p.Met1786Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46862633C>T	NCI-TCGA
LRP4	O75096	p.Asn1788His	rs1208850907	missense variant	-	NC_000011.10:g.46862629T>G	gnomAD
LRP4	O75096	p.Gln1789Glu	rs138291903	missense variant	-	NC_000011.10:g.46862626G>C	1000Genomes,ExAC,gnomAD
LRP4	O75096	p.Leu1790Met	rs569930780	missense variant	-	NC_000011.10:g.46862623G>T	1000Genomes,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Tyr1792His	rs146542222	missense variant	-	NC_000011.10:g.46862617A>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Tyr1792Cys	rs758146599	missense variant	-	NC_000011.10:g.46862616T>C	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Lys1793Thr	rs778676466	missense variant	-	NC_000011.10:g.46862613T>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1797Arg	rs777943390	missense variant	-	NC_000011.10:g.46859312C>T	ExAC,gnomAD
LRP4	O75096	p.Gly1797Glu	rs756670241	missense variant	-	NC_000011.10:g.46859311C>T	ExAC,gnomAD
LRP4	O75096	p.His1800Tyr	rs144229304	missense variant	-	NC_000011.10:g.46859303G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1801Thr	rs140715783	missense variant	-	NC_000011.10:g.46859299T>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asn1801Ile	rs140715783	missense variant	-	NC_000011.10:g.46859299T>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Tyr1802Cys	rs1238593419	missense variant	-	NC_000011.10:g.46859296T>C	TOPMed
LRP4	O75096	p.Lys1806Arg	rs755103149	missense variant	-	NC_000011.10:g.46859284T>C	ExAC,gnomAD
LRP4	O75096	p.Lys1806Asn	rs751631267	missense variant	-	NC_000011.10:g.46859283C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Lys1808Asn	rs772706817	missense variant	-	NC_000011.10:g.46859277C>G	TOPMed,gnomAD
LRP4	O75096	p.Lys1808Arg	rs1048709016	missense variant	-	NC_000011.10:g.46859278T>C	TOPMed,gnomAD
LRP4	O75096	p.Ile1809Asn	rs373162825	missense variant	-	NC_000011.10:g.46859275A>T	ESP,ExAC,gnomAD
LRP4	O75096	p.Val1810Ile	rs779299308	missense variant	-	NC_000011.10:g.46859273C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Val1810Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46859273C>A	NCI-TCGA
LRP4	O75096	p.Glu1811Ter	COSM4916726	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.46859270C>A	NCI-TCGA Cosmic
LRP4	O75096	p.Ile1813Thr	rs991397044	missense variant	-	NC_000011.10:g.46859263A>G	TOPMed
LRP4	O75096	p.Ile1813Val	rs1250729752	missense variant	-	NC_000011.10:g.46859264T>C	gnomAD
LRP4	O75096	p.Cys1814Tyr	rs760515633	missense variant	-	NC_000011.10:g.46859260C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Cys1814Ser	rs760515633	missense variant	-	NC_000011.10:g.46859260C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1817Thr	rs772123153	missense variant	-	NC_000011.10:g.46859252A>T	ExAC,gnomAD
LRP4	O75096	p.Ser1817Pro	rs772123153	missense variant	-	NC_000011.10:g.46859252A>G	ExAC,gnomAD
LRP4	O75096	p.Ser1817Cys	rs759183770	missense variant	-	NC_000011.10:g.46859251G>C	ExAC,gnomAD
LRP4	O75096	p.Gly1818Arg	rs773670430	missense variant	-	NC_000011.10:g.46859249C>T	ExAC,gnomAD
LRP4	O75096	p.Gly1818Val	rs770632442	missense variant	-	NC_000011.10:g.46859248C>A	ExAC,gnomAD
LRP4	O75096	p.Asp1819Asn	rs770188065	missense variant	-	NC_000011.10:g.46859246C>T	ExAC,gnomAD
LRP4	O75096	p.Asp1819Tyr	rs770188065	missense variant	-	NC_000011.10:g.46859246C>A	ExAC,gnomAD
LRP4	O75096	p.Asp1819Val	RCV000282162	missense variant	-	NC_000011.10:g.46859245T>A	ClinVar
LRP4	O75096	p.Asp1819Val	rs886043837	missense variant	-	NC_000011.10:g.46859245T>A	-
LRP4	O75096	p.Asp1820Gly	rs1325005923	missense variant	-	NC_000011.10:g.46859242T>C	gnomAD
LRP4	O75096	p.Leu1826Val	rs781711078	missense variant	-	NC_000011.10:g.46859225G>C	ExAC,gnomAD
LRP4	O75096	p.Arg1830Ter	rs567501477	stop gained	-	NC_000011.10:g.46859213G>A	ExAC,gnomAD
LRP4	O75096	p.Arg1830Gly	rs567501477	missense variant	-	NC_000011.10:g.46859213G>C	ExAC,gnomAD
LRP4	O75096	p.Arg1830Gln	rs146864522	missense variant	-	NC_000011.10:g.46859212C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1830Gln	RCV000177936	missense variant	-	NC_000011.10:g.46859212C>T	ClinVar
LRP4	O75096	p.Arg1830Gln	RCV000808408	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859212C>T	ClinVar
LRP4	O75096	p.Ser1831Gly	rs758676264	missense variant	-	NC_000011.10:g.46859210T>C	ExAC,gnomAD
LRP4	O75096	p.Arg1833Gly	rs1393617361	missense variant	-	NC_000011.10:g.46859204G>C	TOPMed,gnomAD
LRP4	O75096	p.Arg1833Gln	rs771256759	missense variant	-	NC_000011.10:g.46859203C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1833Pro	rs771256759	missense variant	-	NC_000011.10:g.46859203C>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1833Trp	rs1393617361	missense variant	-	NC_000011.10:g.46859204G>A	TOPMed,gnomAD
LRP4	O75096	p.Gly1834Trp	rs142462686	missense variant	-	NC_000011.10:g.46859201C>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1834Arg	rs142462686	missense variant	-	NC_000011.10:g.46859201C>G	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1834Arg	rs142462686	missense variant	-	NC_000011.10:g.46859201C>T	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1834Glu	rs1269029549	missense variant	-	NC_000011.10:g.46859200C>T	gnomAD
LRP4	O75096	p.Gly1835Ser	rs752536167	missense variant	-	NC_000011.10:g.46859198C>T	ExAC,gnomAD
LRP4	O75096	p.Gly1835Ala	rs1324867173	missense variant	-	NC_000011.10:g.46859197C>G	TOPMed,gnomAD
LRP4	O75096	p.Gly1835AlaPheSerTerUnk	rs745628337	frameshift	-	NC_000011.10:g.46859197C>-	NCI-TCGA,NCI-TCGA Cosmic
LRP4	O75096	p.Leu1836Pro	rs1031449863	missense variant	-	NC_000011.10:g.46859194A>G	TOPMed
LRP4	O75096	p.Leu1836ProPheSerTerUnkUnk	rs781010468	frameshift	-	NC_000011.10:g.46859196_46859197insC	NCI-TCGA
LRP4	O75096	p.Leu1837Phe	rs540240854	missense variant	-	NC_000011.10:g.46859192G>A	1000Genomes,TOPMed
LRP4	O75096	p.Leu1837Pro	rs759491078	missense variant	-	NC_000011.10:g.46859191A>G	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1838Gln	RCV000763744	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859188C>T	ClinVar
LRP4	O75096	p.Arg1838Leu	rs770309253	missense variant	-	NC_000011.10:g.46859188C>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1838Gln	rs770309253	missense variant	-	NC_000011.10:g.46859188C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1838Trp	rs199969059	missense variant	-	NC_000011.10:g.46859189G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1838Gln	RCV000412878	missense variant	-	NC_000011.10:g.46859188C>T	ClinVar
LRP4	O75096	p.Asp1839Tyr	rs968707258	missense variant	-	NC_000011.10:g.46859186C>A	TOPMed
LRP4	O75096	p.His1840Arg	rs148761432	missense variant	-	NC_000011.10:g.46859182T>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Cys1842Arg	rs769426991	missense variant	-	NC_000011.10:g.46859177A>G	ExAC,gnomAD
LRP4	O75096	p.Thr1845Ile	rs1466826075	missense variant	-	NC_000011.10:g.46859167G>A	TOPMed
LRP4	O75096	p.Asp1846Gly	rs781473865	missense variant	-	NC_000011.10:g.46859164T>C	ExAC,gnomAD
LRP4	O75096	p.Asp1846Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46859165C>A	NCI-TCGA
LRP4	O75096	p.Thr1847Met	rs375391856	missense variant	-	NC_000011.10:g.46859161G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gln1851Ter	rs1391541955	stop gained	-	NC_000011.10:g.46859150G>A	gnomAD
LRP4	O75096	p.Ala1852Ser	rs758456452	missense variant	-	NC_000011.10:g.46859147C>A	ExAC,gnomAD
LRP4	O75096	p.Ser1853Gly	rs779072150	missense variant	-	NC_000011.10:g.46859144T>C	ExAC,gnomAD
LRP4	O75096	p.Ser1853Asn	rs139535571	missense variant	-	NC_000011.10:g.46859143C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Gly1855Val	rs1417974209	missense variant	-	NC_000011.10:g.46859137C>A	gnomAD
LRP4	O75096	p.Ser1856Pro	rs1251863780	missense variant	-	NC_000011.10:g.46859135A>G	gnomAD
LRP4	O75096	p.Asp1858Asn	rs752556259	missense variant	-	NC_000011.10:g.46859129C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Asp1858Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46859129C>A	NCI-TCGA
LRP4	O75096	p.Glu1861Lys	rs1200818954	missense variant	-	NC_000011.10:g.46859120C>T	gnomAD
LRP4	O75096	p.Thr1862Met	rs368840169	missense variant	-	NC_000011.10:g.46859116G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu1866Val	rs1335430618	missense variant	-	NC_000011.10:g.46859105A>C	gnomAD
LRP4	O75096	p.Gln1867Ter	rs1288994052	stop gained	-	NC_000011.10:g.46859102G>A	gnomAD
LRP4	O75096	p.Glu1869Lys	rs1406725054	missense variant	-	NC_000011.10:g.46859096C>T	gnomAD
LRP4	O75096	p.Cys1873Arg	rs906901321	missense variant	-	NC_000011.10:g.46859084A>G	TOPMed
LRP4	O75096	p.Cys1873Tyr	rs1312872252	missense variant	-	NC_000011.10:g.46859083C>T	gnomAD
LRP4	O75096	p.Ser1874Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46859080C>A	NCI-TCGA
LRP4	O75096	p.Val1876Ile	rs761403316	missense variant	-	NC_000011.10:g.46859075C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.His1877Arg	rs769047003	missense variant	-	NC_000011.10:g.46859071T>C	ExAC,gnomAD
LRP4	O75096	p.His1877Leu	rs769047003	missense variant	-	NC_000011.10:g.46859071T>A	ExAC,gnomAD
LRP4	O75096	p.Ala1879Val	rs1452525646	missense variant	-	NC_000011.10:g.46859065G>A	gnomAD
LRP4	O75096	p.Glu1883Val	rs1366363724	missense variant	-	NC_000011.10:g.46859053T>A	TOPMed
LRP4	O75096	p.Arg1884Gly	rs377204138	missense variant	-	NC_000011.10:g.46859051T>C	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1884Gly	RCV000340576	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859051T>C	ClinVar
LRP4	O75096	p.Arg1884Gly	RCV000643976	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859051T>C	ClinVar
LRP4	O75096	p.Arg1885Ter	rs147138337	stop gained	-	NC_000011.10:g.46859048G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Arg1885Gln	rs779079160	missense variant	-	NC_000011.10:g.46859047C>T	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1887Cys	rs149082597	missense variant	-	NC_000011.10:g.46859041G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Ser1887Cys	RCV000360139	missense variant	-	NC_000011.10:g.46859041G>C	ClinVar
LRP4	O75096	p.Ser1887Cys	RCV000524562	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859041G>C	ClinVar
LRP4	O75096	p.Asp1890Gly	rs749482785	missense variant	-	NC_000011.10:g.46859032T>C	ExAC,gnomAD
LRP4	O75096	p.Asp1890Ala	rs749482785	missense variant	-	NC_000011.10:g.46859032T>G	ExAC,gnomAD
LRP4	O75096	p.Thr1891Met	rs372637156	missense variant	-	NC_000011.10:g.46859029G>A	ESP,ExAC,TOPMed,gnomAD
LRP4	O75096	p.Thr1891Ser	rs778114327	missense variant	-	NC_000011.10:g.46859030T>A	ExAC,gnomAD
LRP4	O75096	p.Thr1891Met	RCV000283272	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859029G>A	ClinVar
LRP4	O75096	p.Thr1891Met	RCV000699085	missense variant	Syndactyly Cenani Lenz type (CLSS)	NC_000011.10:g.46859029G>A	ClinVar
LRP4	O75096	p.Trp1893Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.46859022C>G	NCI-TCGA
LRP4	O75096	p.Glu1896Ala	rs1212679948	missense variant	-	NC_000011.10:g.46859014T>G	TOPMed
LRP4	O75096	p.Arg1897His	rs944605592	missense variant	-	NC_000011.10:g.46859011C>T	TOPMed,gnomAD
LRP4	O75096	p.Arg1897Cys	rs758294827	missense variant	-	NC_000011.10:g.46859012G>A	ExAC,TOPMed,gnomAD
LRP4	O75096	p.Leu1899Phe	rs1316612833	missense variant	-	NC_000011.10:g.46859006G>A	gnomAD
LRP4	O75096	p.Glu1902Asp	rs368711715	missense variant	-	NC_000011.10:g.46858995C>G	ESP,ExAC,gnomAD
LRP4	O75096	p.Val1905Ile	rs911752249	missense variant	-	NC_000011.10:g.46858988C>T	TOPMed
TBX10	O75333	p.Ala2Val	rs1246254887	missense variant	-	NC_000011.10:g.67639468G>A	TOPMed
TBX10	O75333	p.Ala3Val	rs756467784	missense variant	-	NC_000011.10:g.67635263G>A	ExAC,gnomAD
TBX10	O75333	p.Leu5Pro	rs757342469	missense variant	-	NC_000011.10:g.67635257A>G	ExAC,gnomAD
TBX10	O75333	p.Ala7Val	rs1207575715	missense variant	-	NC_000011.10:g.67635251G>A	gnomAD
TBX10	O75333	p.Gly8Ser	COSM4835626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67635249C>T	NCI-TCGA Cosmic
TBX10	O75333	p.Gly10Cys	rs754820545	missense variant	-	NC_000011.10:g.67635243C>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gly10Ser	rs754820545	missense variant	-	NC_000011.10:g.67635243C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gly10Asp	rs1228056210	missense variant	-	NC_000011.10:g.67635242C>T	gnomAD
TBX10	O75333	p.Ile11Val	rs1055698382	missense variant	-	NC_000011.10:g.67635240T>C	gnomAD
TBX10	O75333	p.Leu12Phe	rs1300438648	missense variant	-	NC_000011.10:g.67635237G>A	gnomAD
TBX10	O75333	p.Leu12Arg	rs753794880	missense variant	-	NC_000011.10:g.67635236A>C	ExAC,gnomAD
TBX10	O75333	p.Leu12Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67635237G>T	NCI-TCGA
TBX10	O75333	p.Ala13Pro	rs1409297395	missense variant	-	NC_000011.10:g.67635234C>G	gnomAD
TBX10	O75333	p.Pro14Leu	rs1330568058	missense variant	-	NC_000011.10:g.67635230G>A	TOPMed,gnomAD
TBX10	O75333	p.Pro14Thr	rs1318906370	missense variant	-	NC_000011.10:g.67635231G>T	TOPMed
TBX10	O75333	p.Pro14Ser	rs1318906370	missense variant	-	NC_000011.10:g.67635231G>A	TOPMed
TBX10	O75333	p.Glu16Asp	rs1271474503	missense variant	-	NC_000011.10:g.67635223C>G	TOPMed
TBX10	O75333	p.Thr17Asn	rs937255558	missense variant	-	NC_000011.10:g.67635221G>T	TOPMed,gnomAD
TBX10	O75333	p.Pro19Ser	rs766130985	missense variant	-	NC_000011.10:g.67635216G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro19Ala	rs766130985	missense variant	-	NC_000011.10:g.67635216G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro19Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67635216G>T	NCI-TCGA
TBX10	O75333	p.Leu20Pro	rs1371168447	missense variant	-	NC_000011.10:g.67635212A>G	gnomAD
TBX10	O75333	p.Pro21Leu	rs1307669581	missense variant	-	NC_000011.10:g.67635209G>A	gnomAD
TBX10	O75333	p.Thr22Ser	rs760517381	missense variant	-	NC_000011.10:g.67635207T>A	ExAC,gnomAD
TBX10	O75333	p.Thr23Ile	rs1247285047	missense variant	-	NC_000011.10:g.67635203G>A	TOPMed
TBX10	O75333	p.Ser24Asn	rs1170391995	missense variant	-	NC_000011.10:g.67635200C>T	gnomAD
TBX10	O75333	p.Ser25Cys	rs767221109	missense variant	-	NC_000011.10:g.67635197G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser25Phe	rs767221109	missense variant	-	NC_000011.10:g.67635197G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gly26Asp	rs761413865	missense variant	-	NC_000011.10:g.67635194C>T	ExAC,gnomAD
TBX10	O75333	p.Trp27Ser	rs1196052552	missense variant	-	NC_000011.10:g.67635191C>G	TOPMed,gnomAD
TBX10	O75333	p.Trp27Ter	rs1196052552	stop gained	-	NC_000011.10:g.67635191C>T	TOPMed,gnomAD
TBX10	O75333	p.Glu28Asp	rs1042942511	missense variant	-	NC_000011.10:g.67635187C>A	TOPMed,gnomAD
TBX10	O75333	p.Glu28Asp	rs1042942511	missense variant	-	NC_000011.10:g.67635187C>G	TOPMed,gnomAD
TBX10	O75333	p.Pro29Thr	rs773960174	missense variant	-	NC_000011.10:g.67635186G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro29Ser	rs773960174	missense variant	-	NC_000011.10:g.67635186G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro29His	rs769229550	missense variant	-	NC_000011.10:g.67635185G>T	ExAC,gnomAD
TBX10	O75333	p.Arg30Trp	rs763408796	missense variant	-	NC_000011.10:g.67635183G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg30Gln	rs369591870	missense variant	-	NC_000011.10:g.67635182C>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gly32Arg	rs770112981	missense variant	-	NC_000011.10:g.67635177C>T	ExAC
TBX10	O75333	p.Ser33Thr	rs746173437	missense variant	-	NC_000011.10:g.67635174A>T	ExAC,gnomAD
TBX10	O75333	p.Pro34Ser	rs781392351	missense variant	-	NC_000011.10:g.67635171G>A	ExAC,gnomAD
TBX10	O75333	p.Pro36Leu	rs1235439126	missense variant	-	NC_000011.10:g.67635164G>A	gnomAD
TBX10	O75333	p.Ser37Pro	rs771097716	missense variant	-	NC_000011.10:g.67635162A>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Cys40Trp	rs1372667825	missense variant	-	NC_000011.10:g.67635151G>C	gnomAD
TBX10	O75333	p.Cys40Tyr	rs747111140	missense variant	-	NC_000011.10:g.67635152C>T	ExAC,gnomAD
TBX10	O75333	p.Ser42Thr	rs758475508	missense variant	-	NC_000011.10:g.67635146C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser42Arg	rs780031766	missense variant	-	NC_000011.10:g.67635145G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser43Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67635144A>G	NCI-TCGA
TBX10	O75333	p.Ala46Gly	rs750176680	missense variant	-	NC_000011.10:g.67635134G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ala46Val	rs750176680	missense variant	-	NC_000011.10:g.67635134G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gln47Glu	rs375222437	missense variant	-	NC_000011.10:g.67635132G>C	ESP,TOPMed,gnomAD
TBX10	O75333	p.Gln47His	rs767313064	missense variant	-	NC_000011.10:g.67635130T>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ala48Val	rs535361513	missense variant	-	NC_000011.10:g.67635128G>A	ExAC,gnomAD
TBX10	O75333	p.Ala50Thr	rs1183259339	missense variant	-	NC_000011.10:g.67635123C>T	gnomAD
TBX10	O75333	p.Glu51Gln	rs372244845	missense variant	-	NC_000011.10:g.67635120C>G	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Glu51Lys	rs372244845	missense variant	-	NC_000011.10:g.67635120C>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro52His	rs776931059	missense variant	-	NC_000011.10:g.67635116G>T	ExAC,gnomAD
TBX10	O75333	p.Pro52Ala	rs147388176	missense variant	-	NC_000011.10:g.67635117G>C	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro52Thr	rs147388176	missense variant	-	NC_000011.10:g.67635117G>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro52Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67635117G>A	NCI-TCGA
TBX10	O75333	p.Thr53Ala	rs771261236	missense variant	-	NC_000011.10:g.67635114T>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Thr53Ile	rs1406563400	missense variant	-	NC_000011.10:g.67635113G>A	TOPMed
TBX10	O75333	p.Pro57Ser	rs778052982	missense variant	-	NC_000011.10:g.67635102G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Lys58Asn	rs772103440	missense variant	-	NC_000011.10:g.67635097C>A	ExAC,gnomAD
TBX10	O75333	p.Asn59Lys	rs748202526	missense variant	-	NC_000011.10:g.67635094G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg61His	rs140320420	missense variant	-	NC_000011.10:g.67635089C>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg61Cys	rs779864791	missense variant	-	NC_000011.10:g.67635090G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg61Ser	rs779864791	missense variant	-	NC_000011.10:g.67635090G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Val62Met	rs750268772	missense variant	-	NC_000011.10:g.67635087C>T	ExAC,gnomAD
TBX10	O75333	p.Val62Met	rs750268772	missense variant	-	NC_000011.10:g.67635087C>T	NCI-TCGA
TBX10	O75333	p.Ser63Ala	rs1279067255	missense variant	-	NC_000011.10:g.67635084A>C	TOPMed
TBX10	O75333	p.Arg64Thr	rs781185047	missense variant	-	NC_000011.10:g.67635080C>G	ExAC,gnomAD
TBX10	O75333	p.Arg64Thr	rs781185047	missense variant	-	NC_000011.10:g.67635080C>G	NCI-TCGA
TBX10	O75333	p.Val65Met	rs757110668	missense variant	-	NC_000011.10:g.67635078C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Val65Leu	rs757110668	missense variant	-	NC_000011.10:g.67635078C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Val65Leu	rs757110668	missense variant	-	NC_000011.10:g.67635078C>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Val65Met	rs757110668	missense variant	-	NC_000011.10:g.67635078C>T	NCI-TCGA Cosmic
TBX10	O75333	p.Met71Ile	COSM1288372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67635058C>T	NCI-TCGA Cosmic
TBX10	O75333	p.Pro73Arg	rs765685278	missense variant	-	NC_000011.10:g.67635053G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro73Leu	rs765685278	missense variant	-	NC_000011.10:g.67635053G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Leu74Pro	rs760083503	missense variant	-	NC_000011.10:g.67635050A>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Leu74Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67635050A>T	NCI-TCGA
TBX10	O75333	p.Glu76Lys	rs777088724	missense variant	-	NC_000011.10:g.67635045C>T	ExAC,gnomAD
TBX10	O75333	p.Gln80His	rs766797610	missense variant	-	NC_000011.10:g.67635031C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gln80His	rs766797610	missense variant	-	NC_000011.10:g.67635031C>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Met85Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67635016C>A	NCI-TCGA
TBX10	O75333	p.Ile86Thr	rs1187870385	missense variant	-	NC_000011.10:g.67635014A>G	TOPMed
TBX10	O75333	p.Val87Asp	rs748211858	missense variant	-	NC_000011.10:g.67635011A>T	ExAC
TBX10	O75333	p.Val87Ile	rs141787375	missense variant	-	NC_000011.10:g.67635012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Thr88Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67635009T>G	NCI-TCGA
TBX10	O75333	p.Ala90Val	rs774444028	missense variant	-	NC_000011.10:g.67635002G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ala90Thr	rs1228004931	missense variant	-	NC_000011.10:g.67635003C>T	gnomAD
TBX10	O75333	p.Arg93Thr	rs1226140206	missense variant	-	NC_000011.10:g.67634915C>G	TOPMed,gnomAD
TBX10	O75333	p.Arg93Lys	rs1226140206	missense variant	-	NC_000011.10:g.67634915C>T	TOPMed,gnomAD
TBX10	O75333	p.Phe95Leu	rs764930595	missense variant	-	NC_000011.10:g.67634910A>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Phe95Ile	rs764930595	missense variant	-	NC_000011.10:g.67634910A>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Phe95Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67634909A>C	NCI-TCGA
TBX10	O75333	p.Pro96His	rs768913248	missense variant	-	NC_000011.10:g.67634906G>T	ExAC,gnomAD
TBX10	O75333	p.Pro96Arg	rs768913248	missense variant	-	NC_000011.10:g.67634906G>C	ExAC,gnomAD
TBX10	O75333	p.Pro97Ala	rs749320539	missense variant	-	NC_000011.10:g.67634904G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro97Arg	rs148072042	missense variant	-	NC_000011.10:g.67634903G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro97Leu	rs148072042	missense variant	-	NC_000011.10:g.67634903G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro97Thr	rs749320539	missense variant	-	NC_000011.10:g.67634904G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro97Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67634904G>A	NCI-TCGA
TBX10	O75333	p.Pro97His	rs148072042	missense variant	-	NC_000011.10:g.67634903G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Phe98LeuPheSerTerUnkUnk	rs748952707	frameshift	-	NC_000011.10:g.67634901_67634902insG	NCI-TCGA
TBX10	O75333	p.Phe98SerPheSerTerUnk	rs754507706	frameshift	-	NC_000011.10:g.67634902G>-	NCI-TCGA,NCI-TCGA Cosmic
TBX10	O75333	p.Gln99Glu	rs1269320591	missense variant	-	NC_000011.10:g.67634898G>C	TOPMed
TBX10	O75333	p.Lys101Met	rs3758938	missense variant	-	NC_000011.10:g.67634891T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Lys101Thr	rs3758938	missense variant	-	NC_000011.10:g.67634891T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Lys101Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67634892T>C	NCI-TCGA
TBX10	O75333	p.Ile102Phe	rs754498811	missense variant	-	NC_000011.10:g.67634889T>A	ExAC,gnomAD
TBX10	O75333	p.Ile102Met	rs753279467	missense variant	-	NC_000011.10:g.67634887G>C	ExAC,gnomAD
TBX10	O75333	p.Gly104Cys	rs1477087870	missense variant	-	NC_000011.10:g.67634883C>A	gnomAD
TBX10	O75333	p.Asp106Tyr	rs780570867	missense variant	-	NC_000011.10:g.67634877C>A	ExAC,gnomAD
TBX10	O75333	p.Asp106Glu	rs1223587182	missense variant	-	NC_000011.10:g.67634875G>C	gnomAD
TBX10	O75333	p.Ser107Tyr	rs138854653	missense variant	-	NC_000011.10:g.67634873G>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ala109Gly	rs941791429	missense variant	-	NC_000011.10:g.67634867G>C	TOPMed
TBX10	O75333	p.Asp110Asn	rs767968201	missense variant	-	NC_000011.10:g.67634865C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asp110Ala	rs1344145077	missense variant	-	NC_000011.10:g.67634864T>G	gnomAD
TBX10	O75333	p.Tyr111His	rs117056541	missense variant	-	NC_000011.10:g.67634862A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Tyr111Asn	rs117056541	missense variant	-	NC_000011.10:g.67634862A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Tyr111Ser	rs764342091	missense variant	-	NC_000011.10:g.67634861T>G	ExAC,gnomAD
TBX10	O75333	p.Ala112Thr	rs775659044	missense variant	-	NC_000011.10:g.67634859C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Met115Val	rs1349522929	missense variant	-	NC_000011.10:g.67634850T>C	TOPMed,gnomAD
TBX10	O75333	p.Asp116Gly	rs1306513866	missense variant	-	NC_000011.10:g.67634846T>C	gnomAD
TBX10	O75333	p.Asp116Asn	rs141184933	missense variant	-	NC_000011.10:g.67634847C>T	ESP
TBX10	O75333	p.Ile118Met	rs1432017875	missense variant	-	NC_000011.10:g.67634839G>C	gnomAD
TBX10	O75333	p.Ile118Leu	rs1171723832	missense variant	-	NC_000011.10:g.67634841T>G	TOPMed
TBX10	O75333	p.Pro119Leu	COSM3452360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67634837G>A	NCI-TCGA Cosmic
TBX10	O75333	p.Leu120Pro	rs1355564086	missense variant	-	NC_000011.10:g.67634834A>G	gnomAD
TBX10	O75333	p.Asp121Gly	rs1394008173	missense variant	-	NC_000011.10:g.67634831T>C	TOPMed
TBX10	O75333	p.Asp122Asn	rs138224804	missense variant	-	NC_000011.10:g.67634829C>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asp122His	rs138224804	missense variant	-	NC_000011.10:g.67634829C>G	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Tyr125His	rs1200382257	missense variant	-	NC_000011.10:g.67634820A>G	gnomAD
TBX10	O75333	p.Arg126Ser	rs150470556	missense variant	-	NC_000011.10:g.67634360C>G	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg126Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67634816C>A	NCI-TCGA
TBX10	O75333	p.Ala128Gly	rs748984001	missense variant	-	NC_000011.10:g.67634355G>C	ExAC,gnomAD
TBX10	O75333	p.Ala128Thr	rs1226970175	missense variant	-	NC_000011.10:g.67634356C>T	gnomAD
TBX10	O75333	p.Phe129Ser	rs1434461029	missense variant	-	NC_000011.10:g.67634352A>G	gnomAD
TBX10	O75333	p.His130Arg	rs1386599245	missense variant	-	NC_000011.10:g.67634349T>C	gnomAD
TBX10	O75333	p.His130Gln	rs140602591	missense variant	-	NC_000011.10:g.67634348G>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser131Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67634346C>T	NCI-TCGA
TBX10	O75333	p.Ser132Leu	rs745305858	missense variant	-	NC_000011.10:g.67634343G>A	ExAC,gnomAD
TBX10	O75333	p.Trp134Ser	rs757652441	missense variant	-	NC_000011.10:g.67634337C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Trp134Arg	rs1361745253	missense variant	-	NC_000011.10:g.67634338A>G	TOPMed
TBX10	O75333	p.Leu135Pro	rs1280408355	missense variant	-	NC_000011.10:g.67634334A>G	TOPMed
TBX10	O75333	p.Ala137Val	rs778321159	missense variant	-	NC_000011.10:g.67634328G>A	ExAC,gnomAD
TBX10	O75333	p.Gly138Cys	rs753024376	missense variant	-	NC_000011.10:g.67634326C>A	ExAC,gnomAD
TBX10	O75333	p.Gly138Ser	rs753024376	missense variant	-	NC_000011.10:g.67634326C>T	ExAC,gnomAD
TBX10	O75333	p.Gly138Asp	rs765317926	missense variant	-	NC_000011.10:g.67634325C>T	ExAC,gnomAD
TBX10	O75333	p.Pro142Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67634313G>T	NCI-TCGA
TBX10	O75333	p.Ala143Gly	rs755090677	missense variant	-	NC_000011.10:g.67634310G>C	ExAC,gnomAD
TBX10	O75333	p.Thr144Ile	rs753822108	missense variant	-	NC_000011.10:g.67634307G>A	ExAC,gnomAD
TBX10	O75333	p.Pro145Ala	rs767513849	missense variant	-	NC_000011.10:g.67634305G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gly146Ser	rs1362124936	missense variant	-	NC_000011.10:g.67634302C>T	TOPMed,gnomAD
TBX10	O75333	p.Arg147Cys	rs1316311987	missense variant	-	NC_000011.10:g.67634299G>A	TOPMed,gnomAD
TBX10	O75333	p.Arg147His	rs372763899	missense variant	-	NC_000011.10:g.67634298C>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg147Ser	rs1316311987	missense variant	-	NC_000011.10:g.67634299G>T	TOPMed,gnomAD
TBX10	O75333	p.Val148Met	rs763946525	missense variant	-	NC_000011.10:g.67634296C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Phe150Leu	rs1297768745	missense variant	-	NC_000011.10:g.67634288G>T	gnomAD
TBX10	O75333	p.Pro152His	rs762726021	missense variant	-	NC_000011.10:g.67634283G>T	ExAC,gnomAD
TBX10	O75333	p.Pro152Ser	rs1382856153	missense variant	-	NC_000011.10:g.67634284G>A	gnomAD
TBX10	O75333	p.Asp153Asn	rs769289032	missense variant	-	NC_000011.10:g.67634281C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asp153Glu	rs745402649	missense variant	-	NC_000011.10:g.67634279G>T	ExAC,gnomAD
TBX10	O75333	p.Ser154Leu	rs866905136	missense variant	-	NC_000011.10:g.67634277G>A	TOPMed,gnomAD
TBX10	O75333	p.Pro155Thr	rs776051019	missense variant	-	NC_000011.10:g.67634275G>T	ExAC,gnomAD
TBX10	O75333	p.Lys157Asn	rs770442625	missense variant	-	NC_000011.10:g.67634267C>G	ExAC,gnomAD
TBX10	O75333	p.Gly158Arg	rs1466046396	missense variant	-	NC_000011.10:g.67634266C>G	gnomAD
TBX10	O75333	p.Gly158Asp	rs1194625824	missense variant	-	NC_000011.10:g.67634265C>T	gnomAD
TBX10	O75333	p.Ala159Thr	rs747586701	missense variant	-	NC_000011.10:g.67634263C>T	ExAC,gnomAD
TBX10	O75333	p.Trp161Arg	rs778409069	missense variant	-	NC_000011.10:g.67634257A>G	ExAC,gnomAD
TBX10	O75333	p.Trp161Ter	rs1207744821	stop gained	-	NC_000011.10:g.67634256C>T	gnomAD
TBX10	O75333	p.Trp161Ter	COSM3452358	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.67634255C>T	NCI-TCGA Cosmic
TBX10	O75333	p.Met162Ile	rs1037555333	missense variant	-	NC_000011.10:g.67634252C>T	TOPMed,gnomAD
TBX10	O75333	p.Arg163His	rs151337371	missense variant	-	NC_000011.10:g.67634250C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg163Ser	rs200089316	missense variant	-	NC_000011.10:g.67634251G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg163Cys	rs200089316	missense variant	-	NC_000011.10:g.67634251G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gln164Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.67634248G>A	NCI-TCGA
TBX10	O75333	p.Ile165Val	rs1279487198	missense variant	-	NC_000011.10:g.67634245T>C	gnomAD
TBX10	O75333	p.Ile165Thr	rs142397323	missense variant	-	NC_000011.10:g.67634244A>G	ESP
TBX10	O75333	p.Val166Ala	rs1166185399	missense variant	-	NC_000011.10:g.67634241A>G	TOPMed
TBX10	O75333	p.Ser167Phe	rs1048651238	missense variant	-	NC_000011.10:g.67634238G>A	-
TBX10	O75333	p.Ser167Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67634238G>T	NCI-TCGA
TBX10	O75333	p.Phe168Ser	rs142569144	missense variant	-	NC_000011.10:g.67634235A>G	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Phe168Leu	rs1220985383	missense variant	-	NC_000011.10:g.67634236A>G	gnomAD
TBX10	O75333	p.Leu171Phe	rs754069888	missense variant	-	NC_000011.10:g.67634227G>A	ExAC,gnomAD
TBX10	O75333	p.Leu178Pro	rs756186418	missense variant	-	NC_000011.10:g.67634205A>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Leu178Met	rs766413146	missense variant	-	NC_000011.10:g.67634206G>T	ExAC,gnomAD
TBX10	O75333	p.Asp179Asn	rs751557584	missense variant	-	NC_000011.10:g.67634203C>T	ExAC,gnomAD
TBX10	O75333	p.Asp180Asn	COSM931147	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67634200C>T	NCI-TCGA Cosmic
TBX10	O75333	p.Gly182Ser	rs763964938	missense variant	-	NC_000011.10:g.67634194C>T	ExAC,gnomAD
TBX10	O75333	p.His183Gln	rs117709265	missense variant	-	NC_000011.10:g.67634189G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Leu186Val	rs60988467	missense variant	-	NC_000011.10:g.67633097G>C	TOPMed
TBX10	O75333	p.Leu186Phe	rs60988467	missense variant	-	NC_000011.10:g.67633097G>A	TOPMed
TBX10	O75333	p.Asn187Ser	rs781286657	missense variant	-	NC_000011.10:g.67633093T>C	ExAC,gnomAD
TBX10	O75333	p.Ser188Phe	COSM931146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67633090G>A	NCI-TCGA Cosmic
TBX10	O75333	p.His190Tyr	rs778852098	missense variant	-	NC_000011.10:g.67633085G>A	ExAC,gnomAD
TBX10	O75333	p.His190Arg	COSM4036048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67633084T>C	NCI-TCGA Cosmic
TBX10	O75333	p.Arg191His	rs143869780	missense variant	-	NC_000011.10:g.67633081C>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg191Cys	rs1409753248	missense variant	-	NC_000011.10:g.67633082G>A	gnomAD
TBX10	O75333	p.Tyr192His	rs1472682486	missense variant	-	NC_000011.10:g.67633079A>G	gnomAD
TBX10	O75333	p.Tyr192Ter	rs753627508	stop gained	-	NC_000011.10:g.67633077G>T	ExAC,gnomAD
TBX10	O75333	p.Arg195Leu	rs527312583	missense variant	-	NC_000011.10:g.67633069C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg195His	rs527312583	missense variant	-	NC_000011.10:g.67633069C>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg195Cys	rs766153206	missense variant	-	NC_000011.10:g.67633070G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.His197Gln	rs1247439459	missense variant	-	NC_000011.10:g.67633062G>C	gnomAD
TBX10	O75333	p.Val198Ala	rs774736258	missense variant	-	NC_000011.10:g.67633060A>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Val198Gly	rs774736258	missense variant	-	NC_000011.10:g.67633060A>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Val198Met	rs535008516	missense variant	-	NC_000011.10:g.67633061C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Val199Phe	rs769143358	missense variant	-	NC_000011.10:g.67633058C>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Phe200Leu	rs149888346	missense variant	-	NC_000011.10:g.67633053G>C	ESP,TOPMed,gnomAD
TBX10	O75333	p.Val201Leu	rs376880264	missense variant	-	NC_000011.10:g.67633052C>A	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Val201Met	rs376880264	missense variant	-	NC_000011.10:g.67633052C>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asp202His	rs746151250	missense variant	-	NC_000011.10:g.67633049C>G	ExAC,gnomAD
TBX10	O75333	p.Asp202Glu	rs776820074	missense variant	-	NC_000011.10:g.67633047G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asp202Ala	rs1379520205	missense variant	-	NC_000011.10:g.67633048T>G	gnomAD
TBX10	O75333	p.Pro203Ser	rs375584058	missense variant	-	NC_000011.10:g.67633046G>A	ESP,TOPMed
TBX10	O75333	p.Arg204Ser	rs200918283	missense variant	-	NC_000011.10:g.67633043G>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg204Cys	rs200918283	missense variant	-	NC_000011.10:g.67633043G>A	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg204His	rs139191413	missense variant	-	NC_000011.10:g.67633042C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser207Asn	rs1216261036	missense variant	-	NC_000011.10:g.67633033C>T	TOPMed
TBX10	O75333	p.Glu208Ala	rs754897139	missense variant	-	NC_000011.10:g.67633030T>G	ExAC,gnomAD
TBX10	O75333	p.Glu208Lys	rs778745305	missense variant	-	NC_000011.10:g.67633031C>T	ExAC,gnomAD
TBX10	O75333	p.Arg209His	rs780037338	missense variant	-	NC_000011.10:g.67633027C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg209Pro	rs780037338	missense variant	-	NC_000011.10:g.67633027C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg209Cys	rs150805271	missense variant	-	NC_000011.10:g.67633028G>A	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Tyr210Ter	rs1165885671	stop gained	-	NC_000011.10:g.67633023A>C	gnomAD
TBX10	O75333	p.Tyr210Cys	rs920985945	missense variant	-	NC_000011.10:g.67633024T>C	TOPMed,gnomAD
TBX10	O75333	p.Ala211Thr	rs755971155	missense variant	-	NC_000011.10:g.67633022C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gln212Ter	rs1390103911	stop gained	-	NC_000011.10:g.67633019G>A	gnomAD
TBX10	O75333	p.Glu213Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67633014C>A	NCI-TCGA
TBX10	O75333	p.Glu213Lys	COSM3452356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67633016C>T	NCI-TCGA Cosmic
TBX10	O75333	p.Phe215Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67633009A>G	NCI-TCGA
TBX10	O75333	p.Ser217Thr	rs201886785	missense variant	-	NC_000011.10:g.67633004A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Phe218Ile	rs767223205	missense variant	-	NC_000011.10:g.67633001A>T	ExAC,gnomAD
TBX10	O75333	p.Ile219Asn	rs1361725531	missense variant	-	NC_000011.10:g.67632997A>T	TOPMed
TBX10	O75333	p.Glu222Asp	rs763486594	missense variant	-	NC_000011.10:g.67632987C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Glu222Lys	rs777113959	missense variant	-	NC_000011.10:g.67632989C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Glu222Gln	rs777113959	missense variant	-	NC_000011.10:g.67632989C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Glu222Asp	COSM1356460	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67632987C>A	NCI-TCGA Cosmic
TBX10	O75333	p.Thr223Ser	rs763551553	missense variant	-	NC_000011.10:g.67632985G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Thr223Asn	rs763551553	missense variant	-	NC_000011.10:g.67632985G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gln224Ter	rs775968608	stop gained	-	NC_000011.10:g.67632983G>A	ExAC,gnomAD
TBX10	O75333	p.Val228Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67632971C>G	NCI-TCGA
TBX10	O75333	p.Tyr231Ter	rs776841060	stop gained	-	NC_000011.10:g.67632960A>C	ExAC,gnomAD
TBX10	O75333	p.Gln232Leu	rs771143635	missense variant	-	NC_000011.10:g.67632958T>A	ExAC,gnomAD
TBX10	O75333	p.Leu239AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.67632661_67632662insGC	NCI-TCGA
TBX10	O75333	p.Ala242Thr	rs554161959	missense variant	-	NC_000011.10:g.67632652C>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asn244Asp	rs1175295384	missense variant	-	NC_000011.10:g.67632646T>C	gnomAD
TBX10	O75333	p.Pro245Ala	rs1481536122	missense variant	-	NC_000011.10:g.67632643G>C	gnomAD
TBX10	O75333	p.Pro245Arg	rs1489787800	missense variant	-	NC_000011.10:g.67632642G>C	TOPMed
TBX10	O75333	p.Pro245Leu	COSM3986413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67632642G>A	NCI-TCGA Cosmic
TBX10	O75333	p.Phe246Leu	rs1202466876	missense variant	-	NC_000011.10:g.67632640A>G	gnomAD
TBX10	O75333	p.Phe246Ser	rs1224323648	missense variant	-	NC_000011.10:g.67632639A>G	TOPMed
TBX10	O75333	p.Ala247Val	rs781077286	missense variant	-	NC_000011.10:g.67632636G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gly249Val	rs770623718	missense variant	-	NC_000011.10:g.67632630C>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Phe250Cys	rs777229978	missense variant	-	NC_000011.10:g.67632627A>C	ExAC,gnomAD
TBX10	O75333	p.Arg251Lys	rs757906992	missense variant	-	NC_000011.10:g.67632624C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Glu252Gly	rs1374616166	missense variant	-	NC_000011.10:g.67632621T>C	gnomAD
TBX10	O75333	p.Glu252Asp	rs375630299	missense variant	-	NC_000011.10:g.67632620C>G	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asp254Glu	rs1292812751	missense variant	-	NC_000011.10:g.67632614G>T	gnomAD
TBX10	O75333	p.Asp254Ala	rs755527687	missense variant	-	NC_000011.10:g.67632615T>G	ExAC,gnomAD
TBX10	O75333	p.Leu255Val	rs754312781	missense variant	-	NC_000011.10:g.67632613G>C	ExAC,gnomAD
TBX10	O75333	p.Trp258Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67632604A>T	NCI-TCGA
TBX10	O75333	p.Pro259Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67632411G>T	NCI-TCGA
TBX10	O75333	p.Val260Met	rs1187940468	missense variant	-	NC_000011.10:g.67632408C>T	TOPMed,gnomAD
TBX10	O75333	p.Ala261Ser	rs751823266	missense variant	-	NC_000011.10:g.67632405C>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro262Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67632402G>C	NCI-TCGA
TBX10	O75333	p.Arg263Gln	rs189317053	missense variant	-	NC_000011.10:g.67632398C>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg263Trp	rs369773006	missense variant	-	NC_000011.10:g.67632399G>A	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro264Arg	rs1023842457	missense variant	-	NC_000011.10:g.67632395G>C	TOPMed
TBX10	O75333	p.Pro264Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67632395G>A	NCI-TCGA
TBX10	O75333	p.Pro264Ser	rs776632977	missense variant	-	NC_000011.10:g.67632396G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Leu265Arg	rs766186087	missense variant	-	NC_000011.10:g.67632392A>C	ExAC,gnomAD
TBX10	O75333	p.Leu266His	rs1403861985	missense variant	-	NC_000011.10:g.67632389A>T	TOPMed
TBX10	O75333	p.Ala270Gly	rs760539643	missense variant	-	NC_000011.10:g.67632377G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ala270Asp	rs760539643	missense variant	-	NC_000011.10:g.67632377G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg271Gln	rs146079895	missense variant	-	NC_000011.10:g.67632374C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg271Trp	rs772929837	missense variant	-	NC_000011.10:g.67632375G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser272Asn	rs1439751475	missense variant	-	NC_000011.10:g.67632371C>T	TOPMed
TBX10	O75333	p.His273Gln	rs1280933393	missense variant	-	NC_000011.10:g.67632367G>T	TOPMed
TBX10	O75333	p.Ser274Asn	rs1222396541	missense variant	-	NC_000011.10:g.67632365C>T	TOPMed
TBX10	O75333	p.Ser274Gly	rs1046827606	missense variant	-	NC_000011.10:g.67632366T>C	TOPMed
TBX10	O75333	p.Leu276Arg	rs1402887667	missense variant	-	NC_000011.10:g.67632359A>C	gnomAD
TBX10	O75333	p.Ser277Thr	rs768169731	missense variant	-	NC_000011.10:g.67632356C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro278His	rs1164210301	missense variant	-	NC_000011.10:g.67632353G>T	gnomAD
TBX10	O75333	p.Pro278Leu	COSM3452355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67632353G>A	NCI-TCGA Cosmic
TBX10	O75333	p.Val280Ala	rs1325044068	missense variant	-	NC_000011.10:g.67632347A>G	TOPMed
TBX10	O75333	p.Leu281Arg	rs748681826	missense variant	-	NC_000011.10:g.67632344A>C	ExAC,gnomAD
TBX10	O75333	p.Gly283Ser	COSM3452354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67632339C>T	NCI-TCGA Cosmic
TBX10	O75333	p.Ala284Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67632335G>A	NCI-TCGA
TBX10	O75333	p.Asp286Asn	rs1204922419	missense variant	-	NC_000011.10:g.67632330C>T	TOPMed
TBX10	O75333	p.Asp286Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67632330C>A	NCI-TCGA
TBX10	O75333	p.Arg287Trp	rs746367221	missense variant	-	NC_000011.10:g.67632327T>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Glu288Lys	rs1197694579	missense variant	-	NC_000011.10:g.67632324C>T	TOPMed,gnomAD
TBX10	O75333	p.Lys289Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67632319T>G	NCI-TCGA
TBX10	O75333	p.Asp290Asn	rs757678642	missense variant	-	NC_000011.10:g.67632318C>T	ExAC,gnomAD
TBX10	O75333	p.Asn292Lys	rs746415369	missense variant	-	NC_000011.10:g.67631887G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asn292His	rs1446838523	missense variant	-	NC_000011.10:g.67631889T>G	gnomAD
TBX10	O75333	p.Asn292Lys	rs746415369	missense variant	-	NC_000011.10:g.67631887G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asn292Ser	rs769321117	missense variant	-	NC_000011.10:g.67631888T>C	ExAC,gnomAD
TBX10	O75333	p.Ala294Thr	rs1305148738	missense variant	-	NC_000011.10:g.67631883C>T	TOPMed
TBX10	O75333	p.Ala296Val	rs186569241	missense variant	-	NC_000011.10:g.67631876G>A	1000Genomes,TOPMed,gnomAD
TBX10	O75333	p.Ala296Thr	rs1470727292	missense variant	-	NC_000011.10:g.67631877C>T	gnomAD
TBX10	O75333	p.Ser297Phe	rs1388199521	missense variant	-	NC_000011.10:g.67631873G>A	gnomAD
TBX10	O75333	p.Lys300Asn	rs757697215	missense variant	-	NC_000011.10:g.67631863C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Thr301Ile	rs868037507	missense variant	-	NC_000011.10:g.67631861G>A	TOPMed,gnomAD
TBX10	O75333	p.Thr301Asn	rs868037507	missense variant	-	NC_000011.10:g.67631861G>T	TOPMed,gnomAD
TBX10	O75333	p.Pro302Leu	rs1241304488	missense variant	-	NC_000011.10:g.67631858G>A	gnomAD
TBX10	O75333	p.Trp304Ter	rs1205686295	stop gained	-	NC_000011.10:g.67631851C>T	TOPMed,gnomAD
TBX10	O75333	p.Trp304Cys	rs1205686295	missense variant	-	NC_000011.10:g.67631851C>G	TOPMed,gnomAD
TBX10	O75333	p.Leu305Arg	rs374679098	missense variant	-	NC_000011.10:g.67631849A>C	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Leu305Phe	rs1461897006	missense variant	-	NC_000011.10:g.67631850G>A	TOPMed,gnomAD
TBX10	O75333	p.Gln308Ter	COSM3810229	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.67631841G>A	NCI-TCGA Cosmic
TBX10	O75333	p.Pro311His	rs758596700	missense variant	-	NC_000011.10:g.67631831G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro311Ser	rs1262394975	missense variant	-	NC_000011.10:g.67631832G>A	gnomAD
TBX10	O75333	p.Pro311Leu	rs758596700	missense variant	-	NC_000011.10:g.67631831G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro312Gln	rs372881982	missense variant	-	NC_000011.10:g.67631828G>T	ESP,TOPMed
TBX10	O75333	p.Pro312Leu	rs372881982	missense variant	-	NC_000011.10:g.67631828G>A	ESP,TOPMed
TBX10	O75333	p.Pro313His	rs369161057	missense variant	-	NC_000011.10:g.67631825G>T	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro313Arg	rs369161057	missense variant	-	NC_000011.10:g.67631825G>C	ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Val315Ile	rs755072160	missense variant	-	NC_000011.10:g.67631820C>T	ExAC,gnomAD
TBX10	O75333	p.Val315Phe	rs755072160	missense variant	-	NC_000011.10:g.67631820C>A	ExAC,gnomAD
TBX10	O75333	p.Leu316Met	rs1340689164	missense variant	-	NC_000011.10:g.67631817G>T	gnomAD
TBX10	O75333	p.Ala318Val	rs1387658333	missense variant	-	NC_000011.10:g.67631810G>A	gnomAD
TBX10	O75333	p.Pro319Ser	rs761628835	missense variant	-	NC_000011.10:g.67631808G>A	ExAC,gnomAD
TBX10	O75333	p.Pro319Leu	rs1383931306	missense variant	-	NC_000011.10:g.67631807G>A	TOPMed,gnomAD
TBX10	O75333	p.Pro319ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.67631807G>-	NCI-TCGA
TBX10	O75333	p.Tyr322Ter	rs763930638	stop gained	-	NC_000011.10:g.67631797G>T	ExAC,gnomAD
TBX10	O75333	p.Tyr322Cys	rs1473204102	missense variant	-	NC_000011.10:g.67631798T>C	gnomAD
TBX10	O75333	p.Tyr322His	rs1198227500	missense variant	-	NC_000011.10:g.67631799A>G	gnomAD
TBX10	O75333	p.Tyr322Ter	rs763930638	stop gained	-	NC_000011.10:g.67631797G>C	ExAC,gnomAD
TBX10	O75333	p.Arg323Thr	rs762557472	missense variant	-	NC_000011.10:g.67631795C>G	ExAC,gnomAD
TBX10	O75333	p.Pro324Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67631792G>A	NCI-TCGA
TBX10	O75333	p.Thr326Lys	rs531906539	missense variant	-	NC_000011.10:g.67631786G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Thr326Met	rs531906539	missense variant	-	NC_000011.10:g.67631786G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gln328His	rs771514015	missense variant	-	NC_000011.10:g.67631779C>A	ExAC,gnomAD
TBX10	O75333	p.Gln328His	rs771514015	missense variant	-	NC_000011.10:g.67631779C>G	ExAC,gnomAD
TBX10	O75333	p.Ser329Asn	rs747494980	missense variant	-	NC_000011.10:g.67631777C>T	ExAC,gnomAD
TBX10	O75333	p.Tyr331Cys	rs772479926	missense variant	-	NC_000011.10:g.67631771T>C	ExAC,gnomAD
TBX10	O75333	p.Pro335Arg	rs753876539	missense variant	-	NC_000011.10:g.67631759G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro335Ser	rs755019737	missense variant	-	NC_000011.10:g.67631760G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro335Leu	rs753876539	missense variant	-	NC_000011.10:g.67631759G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Pro335Ala	rs755019737	missense variant	-	NC_000011.10:g.67631760G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser336Arg	rs781132994	missense variant	-	NC_000011.10:g.67631755G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser336Asn	rs912442180	missense variant	-	NC_000011.10:g.67631756C>T	TOPMed
TBX10	O75333	p.His337Tyr	rs1312654155	missense variant	-	NC_000011.10:g.67631754G>A	TOPMed
TBX10	O75333	p.Gly339Arg	COSM3452352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67631748C>T	NCI-TCGA Cosmic
TBX10	O75333	p.Ile340Ser	rs1249446982	missense variant	-	NC_000011.10:g.67631744A>C	TOPMed
TBX10	O75333	p.Arg342Ser	rs763866445	missense variant	-	NC_000011.10:g.67631737C>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg342Lys	rs751471550	missense variant	-	NC_000011.10:g.67631738C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg342Trp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67631739T>A	NCI-TCGA
TBX10	O75333	p.Arg342Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67631738C>A	NCI-TCGA
TBX10	O75333	p.Thr343Ile	rs1254953072	missense variant	-	NC_000011.10:g.67631735G>A	TOPMed,gnomAD
TBX10	O75333	p.Arg344Gln	rs1194103885	missense variant	-	NC_000011.10:g.67631732C>T	TOPMed,gnomAD
TBX10	O75333	p.Arg344Ter	rs762746844	stop gained	-	NC_000011.10:g.67631733G>A	ExAC,gnomAD
TBX10	O75333	p.Pro345Arg	rs201389909	missense variant	-	NC_000011.10:g.67631729G>C	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ala346Val	rs1426519113	missense variant	-	NC_000011.10:g.67631726G>A	TOPMed
TBX10	O75333	p.Tyr348Ter	rs370073114	stop gained	-	NC_000011.10:g.67631719G>T	ESP,TOPMed,gnomAD
TBX10	O75333	p.Tyr348Phe	rs1266652801	missense variant	-	NC_000011.10:g.67631720T>A	TOPMed,gnomAD
TBX10	O75333	p.Tyr348Ser	rs1266652801	missense variant	-	NC_000011.10:g.67631720T>G	TOPMed,gnomAD
TBX10	O75333	p.Tyr348Ter	rs370073114	stop gained	-	NC_000011.10:g.67631719G>C	ESP,TOPMed,gnomAD
TBX10	O75333	p.Pro349Thr	rs1434101537	missense variant	-	NC_000011.10:g.67631718G>T	gnomAD
TBX10	O75333	p.Leu350Pro	rs1271631805	missense variant	-	NC_000011.10:g.67631714A>G	gnomAD
TBX10	O75333	p.Leu350Phe	rs1430802895	missense variant	-	NC_000011.10:g.67631715G>A	TOPMed
TBX10	O75333	p.Pro351Ser	rs1340970154	missense variant	-	NC_000011.10:g.67631712G>A	gnomAD
TBX10	O75333	p.Pro351Leu	rs951281990	missense variant	-	NC_000011.10:g.67631711G>A	TOPMed
TBX10	O75333	p.Pro351Arg	rs951281990	missense variant	-	NC_000011.10:g.67631711G>C	TOPMed
TBX10	O75333	p.Asn352Ser	rs199538876	missense variant	-	NC_000011.10:g.67631708T>C	1000Genomes,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Asn352Thr	rs199538876	missense variant	-	NC_000011.10:g.67631708T>G	1000Genomes,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ile353Thr	rs1223247342	missense variant	-	NC_000011.10:g.67631705A>G	gnomAD
TBX10	O75333	p.Arg354Pro	rs146672518	missense variant	-	NC_000011.10:g.67631702C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg354Gln	rs146672518	missense variant	-	NC_000011.10:g.67631702C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX10	O75333	p.Arg354Trp	rs770532769	missense variant	-	NC_000011.10:g.67631703G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ala355Val	rs1437753986	missense variant	-	NC_000011.10:g.67631699G>A	gnomAD
TBX10	O75333	p.Asp356Asn	rs1354466041	missense variant	-	NC_000011.10:g.67631697C>T	gnomAD
TBX10	O75333	p.Asp356Gly	rs1326866112	missense variant	-	NC_000011.10:g.67631696T>C	gnomAD
TBX10	O75333	p.Asp358Asn	rs267603142	missense variant	-	NC_000011.10:g.67631691C>T	gnomAD
TBX10	O75333	p.Asp358His	rs267603142	missense variant	-	NC_000011.10:g.67631691C>G	gnomAD
TBX10	O75333	p.Gln359Lys	rs1424604904	missense variant	-	NC_000011.10:g.67631688G>T	gnomAD
TBX10	O75333	p.Gly360Arg	rs1176034466	missense variant	-	NC_000011.10:g.67631685C>T	gnomAD
TBX10	O75333	p.Gly360Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.67631685C>A	NCI-TCGA
TBX10	O75333	p.Gly361Ala	rs773756575	missense variant	-	NC_000011.10:g.67631681C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gly361Asp	rs773756575	missense variant	-	NC_000011.10:g.67631681C>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Leu362Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67631678A>G	NCI-TCGA
TBX10	O75333	p.Pro363Leu	rs962521492	missense variant	-	NC_000011.10:g.67631675G>A	TOPMed,gnomAD
TBX10	O75333	p.Pro363His	rs962521492	missense variant	-	NC_000011.10:g.67631675G>T	TOPMed,gnomAD
TBX10	O75333	p.Pro365Leu	COSM4036045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67631669G>A	NCI-TCGA Cosmic
TBX10	O75333	p.Ala366Ser	rs772336874	missense variant	-	NC_000011.10:g.67631667C>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ala366Pro	rs772336874	missense variant	-	NC_000011.10:g.67631667C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gly367Arg	rs1201817102	missense variant	-	NC_000011.10:g.67631664C>G	gnomAD
TBX10	O75333	p.Gly369Trp	rs768875858	missense variant	-	NC_000011.10:g.67631658C>A	ExAC,gnomAD
TBX10	O75333	p.Gly369Glu	rs1285508750	missense variant	-	NC_000011.10:g.67631657C>T	gnomAD
TBX10	O75333	p.Gly369Arg	rs768875858	missense variant	-	NC_000011.10:g.67631658C>G	ExAC,gnomAD
TBX10	O75333	p.Pro373Leu	rs1373228241	missense variant	-	NC_000011.10:g.67631645G>A	gnomAD
TBX10	O75333	p.Thr374Asn	rs756186322	missense variant	-	NC_000011.10:g.67631642G>T	ExAC,gnomAD
TBX10	O75333	p.Thr374Ala	rs780150971	missense variant	-	NC_000011.10:g.67631643T>C	ExAC
TBX10	O75333	p.Thr374Ile	COSM4912205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67631642G>A	NCI-TCGA Cosmic
TBX10	O75333	p.Val375Ala	rs527776441	missense variant	-	NC_000011.10:g.67631639A>G	1000Genomes
TBX10	O75333	p.Val375Met	rs751559619	missense variant	-	NC_000011.10:g.67631640C>T	ExAC,gnomAD
TBX10	O75333	p.Val376Ala	rs777696017	missense variant	-	NC_000011.10:g.67631636A>G	ExAC,gnomAD
TBX10	O75333	p.Pro380Thr	rs758155529	missense variant	-	NC_000011.10:g.67631625G>T	ExAC,gnomAD
TBX10	O75333	p.Gln382Arg	rs1177897010	missense variant	-	NC_000011.10:g.67631618T>C	gnomAD
TBX10	O75333	p.Asp383His	rs752485816	missense variant	-	NC_000011.10:g.67631616C>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser384Tyr	rs764916916	missense variant	-	NC_000011.10:g.67631612G>T	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ser384Phe	rs764916916	missense variant	-	NC_000011.10:g.67631612G>A	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Gln385Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.67631610G>A	NCI-TCGA
TBX10	O75333	p.Ter386Arg	rs753535154	stop lost	-	NC_000011.10:g.67631607A>G	ExAC,TOPMed,gnomAD
TBX10	O75333	p.Ter386Leu	rs1238210918	stop lost	-	NC_000011.10:g.67631606C>A	gnomAD
TBX10	O75333	p.Ter386Arg	rs753535154	stop lost	-	NC_000011.10:g.67631607A>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Glu2Ala	rs755991024	missense variant	-	NC_000012.12:g.2890952A>C	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser4Leu	rs777546129	missense variant	-	NC_000012.12:g.2890958C>T	ExAC,gnomAD
TULP3	O75386	p.Arg5His	rs749267317	missense variant	-	NC_000012.12:g.2890961G>A	ExAC,gnomAD
TULP3	O75386	p.Arg7Pro	rs1479491653	missense variant	-	NC_000012.12:g.2890967G>C	TOPMed
TULP3	O75386	p.Arg7Gly	rs772084901	missense variant	-	NC_000012.12:g.2890966C>G	TOPMed
TULP3	O75386	p.Arg7Trp	rs772084901	missense variant	-	NC_000012.12:g.2890966C>T	TOPMed
TULP3	O75386	p.Leu8Val	rs770889122	missense variant	-	NC_000012.12:g.2890969C>G	ExAC,gnomAD
TULP3	O75386	p.Leu8Phe	rs770889122	missense variant	-	NC_000012.12:g.2890969C>T	ExAC,gnomAD
TULP3	O75386	p.Leu8Pro	rs1285748443	missense variant	-	NC_000012.12:g.2890970T>C	gnomAD
TULP3	O75386	p.Ser9Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2890974T>G	NCI-TCGA
TULP3	O75386	p.Ser9Ile	rs1260709383	missense variant	-	NC_000012.12:g.2890973G>T	gnomAD
TULP3	O75386	p.Pro10Ser	rs1012583057	missense variant	-	NC_000012.12:g.2890975C>T	gnomAD
TULP3	O75386	p.Ser11Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2890979G>A	NCI-TCGA
TULP3	O75386	p.Gly12Ser	rs528212334	missense variant	-	NC_000012.12:g.2890981G>A	1000Genomes,ExAC,gnomAD
TULP3	O75386	p.Gly12Asp	rs771559772	missense variant	-	NC_000012.12:g.2890982G>A	ExAC,gnomAD
TULP3	O75386	p.Asp13His	COSM3792512	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2890984G>C	NCI-TCGA Cosmic
TULP3	O75386	p.Asp13Tyr	rs1164359285	missense variant	-	NC_000012.12:g.2890984G>T	gnomAD
TULP3	O75386	p.Phe16Leu	rs1160808693	missense variant	-	NC_000012.12:g.2909535C>G	gnomAD
TULP3	O75386	p.His17Tyr	COSM3460061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2909536C>T	NCI-TCGA Cosmic
TULP3	O75386	p.His17Asn	rs1373964188	missense variant	-	NC_000012.12:g.2909536C>A	gnomAD
TULP3	O75386	p.Glu18Gln	rs773058868	missense variant	-	NC_000012.12:g.2909539G>C	TOPMed,gnomAD
TULP3	O75386	p.Glu19Lys	rs138991083	missense variant	-	NC_000012.12:g.2909542G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Met21Leu	rs757112195	missense variant	-	NC_000012.12:g.2909548A>T	ExAC,gnomAD
TULP3	O75386	p.Met23Thr	COSM3739597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2909555T>C	NCI-TCGA Cosmic
TULP3	O75386	p.Arg24Gln	rs1242162221	missense variant	-	NC_000012.12:g.2909558G>A	gnomAD
TULP3	O75386	p.Arg24Ter	rs201665307	stop gained	-	NC_000012.12:g.2909557C>T	NCI-TCGA,NCI-TCGA Cosmic
TULP3	O75386	p.Arg24Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2909558G>T	NCI-TCGA
TULP3	O75386	p.Arg24Ter	rs201665307	stop gained	-	NC_000012.12:g.2909557C>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gln25Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.2909560C>T	NCI-TCGA
TULP3	O75386	p.Gln31Ter	COSM3871462	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.2909578C>T	NCI-TCGA Cosmic
TULP3	O75386	p.Arg32Lys	rs769598549	missense variant	-	NC_000012.12:g.2920764G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg32Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2920764G>T	NCI-TCGA
TULP3	O75386	p.Arg32Trp	rs992579948	missense variant	-	NC_000012.12:g.2920763A>T	TOPMed
TULP3	O75386	p.Leu34Val	rs779375609	missense variant	-	NC_000012.12:g.2920769C>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Leu34Ile	rs779375609	missense variant	-	NC_000012.12:g.2920769C>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Glu36Gln	rs746235539	missense variant	-	NC_000012.12:g.2920775G>C	ExAC,gnomAD
TULP3	O75386	p.Arg38Lys	rs775930305	missense variant	-	NC_000012.12:g.2920782G>A	ExAC,gnomAD
TULP3	O75386	p.Arg40Met	COSM3460062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2920788G>T	NCI-TCGA Cosmic
TULP3	O75386	p.Lys41Arg	rs1399073180	missense variant	-	NC_000012.12:g.2920791A>G	TOPMed
TULP3	O75386	p.Lys42SerPheSerTerUnkUnk	COSM5224652	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.2920790A>-	NCI-TCGA Cosmic
TULP3	O75386	p.Arg43His	rs529548720	missense variant	-	NC_000012.12:g.2920797G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg43Leu	rs529548720	missense variant	-	NC_000012.12:g.2920797G>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg43Cys	rs1185410476	missense variant	-	NC_000012.12:g.2920796C>T	TOPMed
TULP3	O75386	p.Leu44Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2920800T>G	NCI-TCGA
TULP3	O75386	p.Leu44Ile	rs776803884	missense variant	-	NC_000012.12:g.2920799C>A	ExAC,gnomAD
TULP3	O75386	p.Glu45Asp	rs761973948	missense variant	-	NC_000012.12:g.2920804G>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Glu45Lys	rs1242241953	missense variant	-	NC_000012.12:g.2920802G>A	TOPMed
TULP3	O75386	p.Phe47Cys	COSM2205015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2920809T>G	NCI-TCGA Cosmic
TULP3	O75386	p.Val49Ala	rs1269807743	missense variant	-	NC_000012.12:g.2920815T>C	gnomAD
TULP3	O75386	p.Gln50His	rs765458545	missense variant	-	NC_000012.12:g.2920819G>T	ExAC,gnomAD
TULP3	O75386	p.Pro51Ala	rs1220540022	missense variant	-	NC_000012.12:g.2920820C>G	gnomAD
TULP3	O75386	p.Asn52Tyr	rs146376218	missense variant	-	NC_000012.12:g.2920823A>T	1000Genomes,ESP,ExAC,gnomAD
TULP3	O75386	p.Glu54Ala	rs762722512	missense variant	-	NC_000012.12:g.2920830A>C	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg56Ser	rs369808122	missense variant	-	NC_000012.12:g.2920837G>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg56Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2920836G>T	NCI-TCGA
TULP3	O75386	p.Arg58His	rs550241450	missense variant	-	NC_000012.12:g.2920842G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg58Cys	rs200463632	missense variant	-	NC_000012.12:g.2920841C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg59Trp	rs373458913	missense variant	-	NC_000012.12:g.2920844C>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg59Gln	rs139350068	missense variant	-	NC_000012.12:g.2920845G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg59Gly	rs373458913	missense variant	-	NC_000012.12:g.2920844C>G	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Pro62Ser	rs777297562	missense variant	-	NC_000012.12:g.2920853C>T	ExAC,gnomAD
TULP3	O75386	p.Arg63Gly	rs746242429	missense variant	-	NC_000012.12:g.2920856A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser65Gly	rs1313326449	missense variant	-	NC_000012.12:g.2920862A>G	TOPMed
TULP3	O75386	p.Asp66His	rs1457972410	missense variant	-	NC_000012.12:g.2920865G>C	gnomAD
TULP3	O75386	p.Pro70Ala	rs747555221	missense variant	-	NC_000012.12:g.2920877C>G	ExAC,gnomAD
TULP3	O75386	p.Pro70Leu	COSM3460064	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2920878C>T	NCI-TCGA Cosmic
TULP3	O75386	p.Val72Met	rs376106577	missense variant	-	NC_000012.12:g.2920883G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asn73Ser	rs1341349792	missense variant	-	NC_000012.12:g.2920887A>G	gnomAD
TULP3	O75386	p.Pro77Leu	rs1291676947	missense variant	-	NC_000012.12:g.2920899C>T	gnomAD
TULP3	O75386	p.Asn80Ser	rs202025723	missense variant	-	NC_000012.12:g.2920908A>G	ExAC,gnomAD
TULP3	O75386	p.His84Asp	rs773363701	missense variant	-	NC_000012.12:g.2920919C>G	ExAC,gnomAD
TULP3	O75386	p.His84Arg	rs570541745	missense variant	-	NC_000012.12:g.2920920A>G	1000Genomes,ExAC,gnomAD
TULP3	O75386	p.His84Tyr	rs773363701	missense variant	-	NC_000012.12:g.2920919C>T	ExAC,gnomAD
TULP3	O75386	p.Gly85Asp	rs149595629	missense variant	-	NC_000012.12:g.2922262G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gly85Val	rs149595629	missense variant	-	NC_000012.12:g.2922262G>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ile86Val	rs908922013	missense variant	-	NC_000012.12:g.2922264A>G	TOPMed,gnomAD
TULP3	O75386	p.Asp87Gly	rs753421907	missense variant	-	NC_000012.12:g.2922268A>G	ExAC,gnomAD
TULP3	O75386	p.Gly88Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2922270G>T	NCI-TCGA
TULP3	O75386	p.Gly88Val	rs1379816918	missense variant	-	NC_000012.12:g.2922271G>T	TOPMed,gnomAD
TULP3	O75386	p.Pro89Ser	rs1256023837	missense variant	-	NC_000012.12:g.2922273C>T	gnomAD
TULP3	O75386	p.Ala90Pro	rs1439155274	missense variant	-	NC_000012.12:g.2922276G>C	gnomAD
TULP3	O75386	p.Ala90Asp	rs761325000	missense variant	-	NC_000012.12:g.2922277C>A	ExAC,gnomAD
TULP3	O75386	p.Val92Ile	rs367724509	missense variant	-	NC_000012.12:g.2922282G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp96His	rs148720872	missense variant	-	NC_000012.12:g.2922294G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Glu97Lys	rs567441567	missense variant	-	NC_000012.12:g.2922297G>A	1000Genomes,ExAC,gnomAD
TULP3	O75386	p.Glu97Gly	rs1239898516	missense variant	-	NC_000012.12:g.2922298A>G	TOPMed,gnomAD
TULP3	O75386	p.Val98Asp	rs756670655	missense variant	-	NC_000012.12:g.2922301T>A	ExAC,gnomAD
TULP3	O75386	p.His99Asp	rs1482160114	missense variant	-	NC_000012.12:g.2922303C>G	gnomAD
TULP3	O75386	p.His99Arg	rs1338370409	missense variant	-	NC_000012.12:g.2922304A>G	TOPMed
TULP3	O75386	p.Ala100Thr	rs777662918	missense variant	-	NC_000012.12:g.2922306G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ala100Pro	rs777662918	missense variant	-	NC_000012.12:g.2922306G>C	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser102Ter	rs371125928	stop gained	-	NC_000012.12:g.2922313C>G	ESP,TOPMed
TULP3	O75386	p.Val103Leu	rs1360443877	missense variant	-	NC_000012.12:g.2922315G>C	TOPMed
TULP3	O75386	p.Ser105Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2922322C>T	NCI-TCGA
TULP3	O75386	p.Ser106Ala	rs770995642	missense variant	-	NC_000012.12:g.2922324T>G	ExAC,gnomAD
TULP3	O75386	p.Val107Ile	rs142250486	missense variant	-	NC_000012.12:g.2922327G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Val108Leu	rs376218431	missense variant	-	NC_000012.12:g.2922330G>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Val108Met	rs376218431	missense variant	-	NC_000012.12:g.2922330G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp111His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2922339G>C	NCI-TCGA
TULP3	O75386	p.Asp111Gly	rs1456534504	missense variant	-	NC_000012.12:g.2922340A>G	TOPMed
TULP3	O75386	p.Ala112Thr	rs1375047324	missense variant	-	NC_000012.12:g.2922342G>A	TOPMed
TULP3	O75386	p.Ala112Gly	rs1193959506	missense variant	-	NC_000012.12:g.2922343C>G	TOPMed
TULP3	O75386	p.Glu113Gln	rs772045352	missense variant	-	NC_000012.12:g.2922345G>C	ExAC,gnomAD
TULP3	O75386	p.Asn114Thr	rs1171560504	missense variant	-	NC_000012.12:g.2922349A>C	gnomAD
TULP3	O75386	p.Asn114Lys	rs1403068475	missense variant	-	NC_000012.12:g.2922350C>G	gnomAD
TULP3	O75386	p.Thr115Pro	rs1460286243	missense variant	-	NC_000012.12:g.2922351A>C	gnomAD
TULP3	O75386	p.Val116Leu	rs768663010	missense variant	-	NC_000012.12:g.2922354G>T	ExAC,gnomAD
TULP3	O75386	p.Val116Met	rs768663010	missense variant	-	NC_000012.12:g.2922354G>A	ExAC,gnomAD
TULP3	O75386	p.Asp117Val	rs1292976314	missense variant	-	NC_000012.12:g.2922358A>T	gnomAD
TULP3	O75386	p.Asp117Asn	rs775936484	missense variant	-	NC_000012.12:g.2922357G>A	ExAC,gnomAD
TULP3	O75386	p.Thr118Ala	rs1325526741	missense variant	-	NC_000012.12:g.2922360A>G	gnomAD
TULP3	O75386	p.Ala119LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.2922362T>-	NCI-TCGA
TULP3	O75386	p.Ser120Thr	COSM938618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2922366T>A	NCI-TCGA Cosmic
TULP3	O75386	p.Pro122Ala	rs1191347843	missense variant	-	NC_000012.12:g.2922372C>G	TOPMed
TULP3	O75386	p.Pro122Arg	rs761451396	missense variant	-	NC_000012.12:g.2922373C>G	ExAC,gnomAD
TULP3	O75386	p.Leu124Pro	rs1259493178	missense variant	-	NC_000012.12:g.2922379T>C	gnomAD
TULP3	O75386	p.Glu126Lys	rs764784084	missense variant	-	NC_000012.12:g.2922384G>A	ExAC,TOPMed
TULP3	O75386	p.Arg127Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2922387C>A	NCI-TCGA
TULP3	O75386	p.Arg127Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2922387C>T	NCI-TCGA
TULP3	O75386	p.Arg127His	rs368203383	missense variant	-	NC_000012.12:g.2922388G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gln129Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2922394A>T	NCI-TCGA
TULP3	O75386	p.Gln129Pro	rs767825622	missense variant	-	NC_000012.12:g.2922394A>C	ExAC,gnomAD
TULP3	O75386	p.Lys130Asn	rs753081065	missense variant	-	NC_000012.12:g.2922398G>T	ExAC,TOPMed
TULP3	O75386	p.His131Arg	rs200658695	missense variant	-	NC_000012.12:g.2922400A>G	1000Genomes,ExAC,gnomAD
TULP3	O75386	p.His131Tyr	rs556148165	missense variant	-	NC_000012.12:g.2922399C>T	1000Genomes,gnomAD
TULP3	O75386	p.Asp132Gly	rs1302981132	missense variant	-	NC_000012.12:g.2930248A>G	TOPMed,gnomAD
TULP3	O75386	p.Ile133Thr	rs1380728122	missense variant	-	NC_000012.12:g.2930251T>C	gnomAD
TULP3	O75386	p.Ser136Asn	rs750552969	missense variant	-	NC_000012.12:g.2930260G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser136Thr	rs750552969	missense variant	-	NC_000012.12:g.2930260G>C	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asn138Ser	rs1246604206	missense variant	-	NC_000012.12:g.2930266A>G	TOPMed
TULP3	O75386	p.Asp140Asn	rs192385949	missense variant	-	NC_000012.12:g.2930271G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp140Gly	rs1446291865	missense variant	-	NC_000012.12:g.2930272A>G	TOPMed,gnomAD
TULP3	O75386	p.Asp140His	rs192385949	missense variant	-	NC_000012.12:g.2930271G>C	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Glu142Lys	rs1281026489	missense variant	-	NC_000012.12:g.2930277G>A	TOPMed
TULP3	O75386	p.Glu142Ala	rs780960168	missense variant	-	NC_000012.12:g.2930278A>C	ExAC,gnomAD
TULP3	O75386	p.Thr143Asn	rs748075740	missense variant	-	NC_000012.12:g.2930281C>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp144Glu	rs994581521	missense variant	-	NC_000012.12:g.2930285T>G	TOPMed
TULP3	O75386	p.Gly145Arg	rs772648143	missense variant	-	NC_000012.12:g.2930286G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ile146Leu	rs748798022	missense variant	-	NC_000012.12:g.2930289A>T	ExAC,gnomAD
TULP3	O75386	p.Ile146Met	rs770568354	missense variant	-	NC_000012.12:g.2930291A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gln148Arg	rs774113409	missense variant	-	NC_000012.12:g.2930296A>G	ExAC,gnomAD
TULP3	O75386	p.Ser149Leu	rs1445802514	missense variant	-	NC_000012.12:g.2930299C>T	TOPMed
TULP3	O75386	p.Cys151Arg	rs764563348	missense variant	-	NC_000012.12:g.2930304T>C	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg154Gly	rs1423921730	missense variant	-	NC_000012.12:g.2930313A>G	TOPMed
TULP3	O75386	p.Pro155Leu	rs1439423521	missense variant	-	NC_000012.12:g.2930317C>T	gnomAD
TULP3	O75386	p.Pro155Ser	rs776892524	missense variant	-	NC_000012.12:g.2930316C>T	ExAC,gnomAD
TULP3	O75386	p.Asn156His	rs1442011229	missense variant	-	NC_000012.12:g.2930319A>C	TOPMed
TULP3	O75386	p.Ala158Val	rs765854333	missense variant	-	NC_000012.12:g.2930326C>T	ExAC,gnomAD
TULP3	O75386	p.Ser159Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.2930329C>G	NCI-TCGA
TULP3	O75386	p.Gln161Glu	rs1448716909	missense variant	-	NC_000012.12:g.2930334C>G	gnomAD
TULP3	O75386	p.Ser163Ter	rs139812745	stop gained	-	NC_000012.12:g.2930341C>G	ESP,TOPMed
TULP3	O75386	p.Thr164Ser	rs1008339211	missense variant	-	NC_000012.12:g.2930343A>T	TOPMed
TULP3	O75386	p.Asp165Tyr	rs1459276941	missense variant	-	NC_000012.12:g.2931037G>T	TOPMed
TULP3	O75386	p.Gly167Asp	rs1225428222	missense variant	-	NC_000012.12:g.2931044G>A	TOPMed,gnomAD
TULP3	O75386	p.Ser169Cys	rs200507827	missense variant	-	NC_000012.12:g.2931050C>G	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser169Tyr	rs200507827	missense variant	-	NC_000012.12:g.2931050C>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gly170Ala	rs1284685964	missense variant	-	NC_000012.12:g.2931053G>C	gnomAD
TULP3	O75386	p.Gly170Ser	rs774419359	missense variant	-	NC_000012.12:g.2931052G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Thr173Ile	rs759598411	missense variant	-	NC_000012.12:g.2931062C>T	ExAC,gnomAD
TULP3	O75386	p.Ala175Thr	rs201040349	missense variant	-	NC_000012.12:g.2931067G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ala175Gly	rs760434859	missense variant	-	NC_000012.12:g.2931068C>G	ExAC,gnomAD
TULP3	O75386	p.Gln176Pro	rs1351898877	missense variant	-	NC_000012.12:g.2931071A>C	gnomAD
TULP3	O75386	p.Gln176His	COSM4041345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2931072A>T	NCI-TCGA Cosmic
TULP3	O75386	p.Gln176Ter	rs763840266	stop gained	-	NC_000012.12:g.2931070C>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Pro177Leu	rs757160211	missense variant	-	NC_000012.12:g.2931074C>T	ExAC,gnomAD
TULP3	O75386	p.Pro177Ser	rs753659657	missense variant	-	NC_000012.12:g.2931073C>T	ExAC,gnomAD
TULP3	O75386	p.Asp179His	COSM3792513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2931079G>C	NCI-TCGA Cosmic
TULP3	O75386	p.Asn180Ser	COSM431004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2931083A>G	NCI-TCGA Cosmic
TULP3	O75386	p.Asn180Asp	rs372237123	missense variant	-	NC_000012.12:g.2931082A>G	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Leu181Phe	rs200191197	missense variant	-	NC_000012.12:g.2931085C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Leu181Val	rs200191197	missense variant	-	NC_000012.12:g.2931085C>G	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gly183Arg	rs757906008	missense variant	-	NC_000012.12:g.2931091G>A	ExAC,gnomAD
TULP3	O75386	p.Asp184Val	rs779725068	missense variant	-	NC_000012.12:g.2931095A>T	ExAC,gnomAD
TULP3	O75386	p.Ile185Thr	rs1320272012	missense variant	-	NC_000012.12:g.2931098T>C	TOPMed
TULP3	O75386	p.Ile185Val	rs768445744	missense variant	-	NC_000012.12:g.2931097A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp186Glu	rs1455491662	missense variant	-	NC_000012.12:g.2931102C>G	TOPMed,gnomAD
TULP3	O75386	p.Asp187Asn	rs17853063	missense variant	-	NC_000012.12:g.2931103G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp187Tyr	rs17853063	missense variant	-	NC_000012.12:g.2931103G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp190Asn	rs1316181056	missense variant	-	NC_000012.12:g.2931112G>A	TOPMed
TULP3	O75386	p.Asp190Glu	rs1057360909	missense variant	-	NC_000012.12:g.2931114C>A	TOPMed
TULP3	O75386	p.Phe191Tyr	rs1401530750	missense variant	-	NC_000012.12:g.2931116T>A	gnomAD
TULP3	O75386	p.Val192Leu	rs772236632	missense variant	-	NC_000012.12:g.2931118G>C	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser194Arg	rs745941807	missense variant	-	NC_000012.12:g.2931126T>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser194Cys	rs372314358	missense variant	-	NC_000012.12:g.2931124A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gln198Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2931136C>G	NCI-TCGA
TULP3	O75386	p.Gln198His	rs772087384	missense variant	-	NC_000012.12:g.2931138A>C	ExAC,gnomAD
TULP3	O75386	p.Gly199Val	rs775582102	missense variant	-	NC_000012.12:g.2931140G>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gly199Asp	rs775582102	missense variant	-	NC_000012.12:g.2931140G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Val202Gly	rs764314917	missense variant	-	NC_000012.12:g.2931149T>G	ExAC,gnomAD
TULP3	O75386	p.Arg203Thr	rs776341624	missense variant	-	NC_000012.12:g.2931152G>C	ExAC,gnomAD
TULP3	O75386	p.Arg203Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2931153A>C	NCI-TCGA
TULP3	O75386	p.Cys204Trp	rs547315819	missense variant	-	NC_000012.12:g.2931156T>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Cys204Phe	rs1256076642	missense variant	-	NC_000012.12:g.2931155G>T	gnomAD
TULP3	O75386	p.Arg205Trp	rs142402471	missense variant	-	NC_000012.12:g.2931157C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg205Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2931158G>T	NCI-TCGA
TULP3	O75386	p.Arg205Gln	rs750365836	missense variant	-	NC_000012.12:g.2931158G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ile206Met	rs1431264214	missense variant	-	NC_000012.12:g.2931162A>G	gnomAD
TULP3	O75386	p.Arg208Gln	rs770945850	missense variant	-	NC_000012.12:g.2931167G>A	TOPMed,gnomAD
TULP3	O75386	p.Arg208Trp	rs377154908	missense variant	-	NC_000012.12:g.2931166C>T	ESP,ExAC,gnomAD
TULP3	O75386	p.Arg211Gly	rs140815564	missense variant	-	NC_000012.12:g.2931175A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg211Ser	COSM6072000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2931177G>T	NCI-TCGA Cosmic
TULP3	O75386	p.Met213Arg	rs754606546	missense variant	-	NC_000012.12:g.2931182T>G	ExAC,gnomAD
TULP3	O75386	p.Met213Val	rs751127621	missense variant	-	NC_000012.12:g.2931181A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp214His	rs376478642	missense variant	-	NC_000012.12:g.2931184G>C	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp214Tyr	rs376478642	missense variant	-	NC_000012.12:g.2931184G>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp214Asn	rs376478642	missense variant	-	NC_000012.12:g.2931184G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg215Trp	rs150118931	missense variant	-	NC_000012.12:g.2931187C>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg215Gly	rs150118931	missense variant	-	NC_000012.12:g.2931187C>G	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg215Gln	rs151311529	missense variant	-	NC_000012.12:g.2931188G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gly216Arg	rs1268330772	missense variant	-	NC_000012.12:g.2931190G>C	TOPMed
TULP3	O75386	p.Gly216Val	rs746323357	missense variant	-	NC_000012.12:g.2931191G>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gly216Asp	rs746323357	missense variant	-	NC_000012.12:g.2931191G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Leu217Val	rs772659716	missense variant	-	NC_000012.12:g.2931193C>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Phe218Leu	rs775494294	missense variant	-	NC_000012.12:g.2931196T>C	ExAC,gnomAD
TULP3	O75386	p.Pro219Ser	rs768862836	missense variant	-	NC_000012.12:g.2931199C>T	ExAC,gnomAD
TULP3	O75386	p.Thr220Ile	rs1259937009	missense variant	-	NC_000012.12:g.2931203C>T	gnomAD
TULP3	O75386	p.Thr220HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.2931197_2931198insC	NCI-TCGA
TULP3	O75386	p.Tyr222Ter	rs1209060945	stop gained	-	NC_000012.12:g.2931210T>G	gnomAD
TULP3	O75386	p.Tyr222Cys	rs369164770	missense variant	-	NC_000012.12:g.2931209A>G	ESP,ExAC,gnomAD
TULP3	O75386	p.Tyr224Cys	rs1266933486	missense variant	-	NC_000012.12:g.2931215A>G	TOPMed,gnomAD
TULP3	O75386	p.Glu228Val	rs1421490663	missense variant	-	NC_000012.12:g.2931227A>T	TOPMed,gnomAD
TULP3	O75386	p.Glu229Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.2931229G>T	NCI-TCGA
TULP3	O75386	p.Asn230Lys	rs1173822375	missense variant	-	NC_000012.12:g.2931234T>A	TOPMed
TULP3	O75386	p.Asn230Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2931233A>T	NCI-TCGA
TULP3	O75386	p.Asn230Asp	rs761649417	missense variant	-	NC_000012.12:g.2931232A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gln231Ter	COSM3460066	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.2931235C>T	NCI-TCGA Cosmic
TULP3	O75386	p.Gln231Glu	rs921240025	missense variant	-	NC_000012.12:g.2931235C>G	TOPMed,gnomAD
TULP3	O75386	p.Lys232Glu	rs764898707	missense variant	-	NC_000012.12:g.2931238A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ile233Val	rs1164693731	missense variant	-	NC_000012.12:g.2933418A>G	gnomAD
TULP3	O75386	p.Leu235Ile	COSM1361143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2933424C>A	NCI-TCGA Cosmic
TULP3	O75386	p.Leu235Phe	rs200808802	missense variant	-	NC_000012.12:g.2933424C>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Leu236Val	rs1320069996	missense variant	-	NC_000012.12:g.2933427C>G	TOPMed
TULP3	O75386	p.Ala237Ser	rs762869650	missense variant	-	NC_000012.12:g.2933430G>T	ExAC,gnomAD
TULP3	O75386	p.Ala237Val	rs1455714011	missense variant	-	NC_000012.12:g.2933431C>T	TOPMed
TULP3	O75386	p.Arg239Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2933437G>T	NCI-TCGA
TULP3	O75386	p.Arg241Trp	rs61760187	missense variant	-	NC_000012.12:g.2933442C>T	gnomAD
TULP3	O75386	p.Arg241Gln	rs770976166	missense variant	-	NC_000012.12:g.2933443G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg241Leu	rs770976166	missense variant	-	NC_000012.12:g.2933443G>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Lys242Arg	rs1239349750	missense variant	-	NC_000012.12:g.2933446A>G	gnomAD
TULP3	O75386	p.Lys243Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2933450G>T	NCI-TCGA
TULP3	O75386	p.Ser244Thr	rs1395318633	missense variant	-	NC_000012.12:g.2933452G>C	gnomAD
TULP3	O75386	p.Thr246Ile	rs1361272763	missense variant	-	NC_000012.12:g.2933458C>T	gnomAD
TULP3	O75386	p.Ala247Val	rs759083451	missense variant	-	NC_000012.12:g.2933461C>T	ExAC,gnomAD
TULP3	O75386	p.Tyr249Cys	rs1412934880	missense variant	-	NC_000012.12:g.2933467A>G	TOPMed
TULP3	O75386	p.Asp254Asn	rs1217637202	missense variant	-	NC_000012.12:g.2933481G>A	TOPMed,gnomAD
TULP3	O75386	p.Asp254His	rs1217637202	missense variant	-	NC_000012.12:g.2933481G>C	TOPMed,gnomAD
TULP3	O75386	p.Asp257Asn	rs1482333928	missense variant	-	NC_000012.12:g.2933490G>A	gnomAD
TULP3	O75386	p.Arg260His	rs193281338	missense variant	-	NC_000012.12:g.2933500G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg260Pro	rs193281338	missense variant	-	NC_000012.12:g.2933500G>C	1000Genomes,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg260Cys	rs532633521	missense variant	-	NC_000012.12:g.2933499C>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg260Gly	rs532633521	missense variant	-	NC_000012.12:g.2933499C>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Glu261Lys	rs376020604	missense variant	-	NC_000012.12:g.2933502G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Glu263Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2933508G>A	NCI-TCGA
TULP3	O75386	p.Ser264Arg	rs1419870676	missense variant	-	NC_000012.12:g.2933513T>A	gnomAD
TULP3	O75386	p.Tyr265Ter	rs369214279	stop gained	-	NC_000012.12:g.2933516T>G	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Val266Asp	rs769899222	missense variant	-	NC_000012.12:g.2933518T>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gly267Ala	rs774321767	missense variant	-	NC_000012.12:g.2933521G>C	ExAC,gnomAD
TULP3	O75386	p.Gly267Ser	rs137879043	missense variant	-	NC_000012.12:g.2933520G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gly267Cys	rs137879043	missense variant	-	NC_000012.12:g.2933520G>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Lys268Arg	rs1308182743	missense variant	-	NC_000012.12:g.2933524A>G	gnomAD
TULP3	O75386	p.Leu269Phe	rs1010511428	missense variant	-	NC_000012.12:g.2933526C>T	TOPMed
TULP3	O75386	p.Asn272Ser	rs746482584	missense variant	-	NC_000012.12:g.2934452A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asn272Ile	rs746482584	missense variant	-	NC_000012.12:g.2934452A>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Lys277Asn	rs768256239	missense variant	-	NC_000012.12:g.2934468G>C	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Thr279Ala	rs1191415245	missense variant	-	NC_000012.12:g.2934472A>G	gnomAD
TULP3	O75386	p.Thr279Ile	rs761395470	missense variant	-	NC_000012.12:g.2934473C>T	ExAC,gnomAD
TULP3	O75386	p.Tyr281Asp	rs764871037	missense variant	-	NC_000012.12:g.2934478T>G	ExAC,gnomAD
TULP3	O75386	p.Arg283His	rs753286936	missense variant	-	NC_000012.12:g.2934485G>A	ExAC,gnomAD
TULP3	O75386	p.Arg283Cys	rs767887151	missense variant	-	NC_000012.12:g.2934484C>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ile285Met	rs764187183	missense variant	-	NC_000012.12:g.2934492C>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ile285Val	rs756609003	missense variant	-	NC_000012.12:g.2934490A>G	ExAC,gnomAD
TULP3	O75386	p.Pro287Ala	rs1347420524	missense variant	-	NC_000012.12:g.2934496C>G	gnomAD
TULP3	O75386	p.Met288Thr	rs1465964800	missense variant	-	NC_000012.12:g.2934500T>C	TOPMed
TULP3	O75386	p.Met288Val	rs753982357	missense variant	-	NC_000012.12:g.2934499A>G	ExAC,gnomAD
TULP3	O75386	p.Arg291Trp	rs757488213	missense variant	-	NC_000012.12:g.2934508C>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg291Gln	rs536446600	missense variant	-	NC_000012.12:g.2934509G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gly292Val	rs546880875	missense variant	-	NC_000012.12:g.2934512G>T	1000Genomes,ExAC,gnomAD
TULP3	O75386	p.Leu293Trp	rs746927336	missense variant	-	NC_000012.12:g.2934515T>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Val294Ile	rs1222704398	missense variant	-	NC_000012.12:g.2934517G>A	gnomAD
TULP3	O75386	p.Val294Ala	rs768489704	missense variant	-	NC_000012.12:g.2934518T>C	ExAC,gnomAD
TULP3	O75386	p.Gly295Arg	rs145878391	missense variant	-	NC_000012.12:g.2934520G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ala296Val	rs116014892	missense variant	-	NC_000012.12:g.2934524C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ala296Glu	rs116014892	missense variant	-	NC_000012.12:g.2934524C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ala297Val	rs1476320811	missense variant	-	NC_000012.12:g.2934527C>T	gnomAD
TULP3	O75386	p.Ala297Thr	COSM693403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2934526G>A	NCI-TCGA Cosmic
TULP3	O75386	p.Arg300Gln	rs761187853	missense variant	-	NC_000012.12:g.2934536G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg300Trp	rs763523593	missense variant	-	NC_000012.12:g.2934535C>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gln301Leu	rs764514802	missense variant	-	NC_000012.12:g.2934539A>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gln301His	rs991493166	missense variant	-	NC_000012.12:g.2934540G>C	TOPMed
TULP3	O75386	p.Glu302Asp	rs1398214362	missense variant	-	NC_000012.12:g.2934543G>C	gnomAD
TULP3	O75386	p.Ala305Val	rs1405876245	missense variant	-	NC_000012.12:g.2934551C>T	TOPMed
TULP3	O75386	p.Ile306Val	rs762042997	missense variant	-	NC_000012.12:g.2934553A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser307Pro	rs1282963770	missense variant	-	NC_000012.12:g.2934556T>C	gnomAD
TULP3	O75386	p.Glu309Lys	rs150642906	missense variant	-	NC_000012.12:g.2937631G>A	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Glu309Gln	rs150642906	missense variant	-	NC_000012.12:g.2937631G>C	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Thr310Ala	rs777330773	missense variant	-	NC_000012.12:g.2937634A>G	ExAC,gnomAD
TULP3	O75386	p.Thr310Ile	rs1185351704	missense variant	-	NC_000012.12:g.2937635C>T	TOPMed,gnomAD
TULP3	O75386	p.Val312Ile	rs368526026	missense variant	-	NC_000012.12:g.2937640G>A	ESP,ExAC,gnomAD
TULP3	O75386	p.Leu313Phe	rs769148627	missense variant	-	NC_000012.12:g.2937643C>T	TOPMed
TULP3	O75386	p.Gly314Glu	rs763165864	missense variant	-	NC_000012.12:g.2937647G>A	ExAC,gnomAD
TULP3	O75386	p.Gly317Val	NCI-TCGA novel	inframe deletion	-	NC_000012.12:g.2937656_2937676GTCCTAGGAAAATGTCTGTGA>-	NCI-TCGA
TULP3	O75386	p.Gly317Ala	rs751351701	missense variant	-	NC_000012.12:g.2937656G>C	ExAC,gnomAD
TULP3	O75386	p.Arg319Lys	rs1280507194	missense variant	-	NC_000012.12:g.2937662G>A	TOPMed
TULP3	O75386	p.Lys320Arg	COSM938620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2937665A>G	NCI-TCGA Cosmic
TULP3	O75386	p.Met321Thr	rs754773818	missense variant	-	NC_000012.12:g.2937668T>C	ExAC,gnomAD
TULP3	O75386	p.Met321Ile	rs781075943	missense variant	-	NC_000012.12:g.2937669G>A	ExAC,gnomAD
TULP3	O75386	p.Ile325Val	rs752590569	missense variant	-	NC_000012.12:g.2937679A>G	ExAC,gnomAD
TULP3	O75386	p.Ile325Leu	rs752590569	missense variant	-	NC_000012.12:g.2937679A>C	ExAC,gnomAD
TULP3	O75386	p.Gly327Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2937686G>C	NCI-TCGA
TULP3	O75386	p.Thr329Arg	rs756066173	missense variant	-	NC_000012.12:g.2937692C>G	ExAC,gnomAD
TULP3	O75386	p.Thr329Ala	rs1446576749	missense variant	-	NC_000012.12:g.2937691A>G	gnomAD
TULP3	O75386	p.Ile335Thr	rs748755336	missense variant	-	NC_000012.12:g.2937710T>C	ExAC,gnomAD
TULP3	O75386	p.Pro336Leu	rs770614137	missense variant	-	NC_000012.12:g.2937713C>T	ExAC,gnomAD
TULP3	O75386	p.Pro336Ala	rs1205428775	missense variant	-	NC_000012.12:g.2937712C>G	gnomAD
TULP3	O75386	p.Tyr337Cys	rs200713391	missense variant	-	NC_000012.12:g.2937716A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Tyr337His	rs1457127149	missense variant	-	NC_000012.12:g.2937715T>C	gnomAD
TULP3	O75386	p.Gln338Pro	rs769187441	missense variant	-	NC_000012.12:g.2937719A>C	ExAC,gnomAD
TULP3	O75386	p.Gln338Ter	rs1421042858	stop gained	-	NC_000012.12:g.2937718C>T	gnomAD
TULP3	O75386	p.Gln338Arg	rs769187441	missense variant	-	NC_000012.12:g.2937719A>G	ExAC,gnomAD
TULP3	O75386	p.Gln340Glu	rs762364081	missense variant	-	NC_000012.12:g.2937724C>G	ExAC,gnomAD
TULP3	O75386	p.Gln340Ter	rs762364081	stop gained	-	NC_000012.12:g.2937724C>T	ExAC,gnomAD
TULP3	O75386	p.Asn342Asp	rs143103362	missense variant	-	NC_000012.12:g.2938114A>G	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp344Asn	rs767249282	missense variant	-	NC_000012.12:g.2938120G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser345Asn	rs776940652	missense variant	-	NC_000012.12:g.2938124G>A	ExAC,gnomAD
TULP3	O75386	p.Leu346Ser	rs1375090106	missense variant	-	NC_000012.12:g.2938127T>C	gnomAD
TULP3	O75386	p.Leu347Val	rs1456756568	missense variant	-	NC_000012.12:g.2938129C>G	gnomAD
TULP3	O75386	p.Gln351Leu	COSM4917040	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2938142A>T	NCI-TCGA Cosmic
TULP3	O75386	p.Thr354Ile	rs756767944	missense variant	-	NC_000012.12:g.2938151C>T	ExAC,gnomAD
TULP3	O75386	p.Thr354Pro	rs1248541438	missense variant	-	NC_000012.12:g.2938150A>C	TOPMed
TULP3	O75386	p.Met355Val	rs201262022	missense variant	-	NC_000012.12:g.2938153A>G	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asn357Asp	rs147467278	missense variant	-	NC_000012.12:g.2938159A>G	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.His362Arg	rs1243849784	missense variant	-	NC_000012.12:g.2938175A>G	gnomAD
TULP3	O75386	p.Asn363Lys	rs781644204	missense variant	-	NC_000012.12:g.2938179C>A	ExAC,gnomAD
TULP3	O75386	p.Ala365Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2938183G>A	NCI-TCGA
TULP3	O75386	p.Val367Ala	rs1485596722	missense variant	-	NC_000012.12:g.2938190T>C	gnomAD
TULP3	O75386	p.Val367Ile	rs770408342	missense variant	-	NC_000012.12:g.2938189G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asn369Lys	rs1276111458	missense variant	-	NC_000012.12:g.2938197C>A	TOPMed
TULP3	O75386	p.Ser370Thr	rs34246393	missense variant	-	NC_000012.12:g.2938199G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Thr372Ser	rs1422426084	missense variant	-	NC_000012.12:g.2938205C>G	gnomAD
TULP3	O75386	p.Gln373Glu	rs770875252	missense variant	-	NC_000012.12:g.2938207C>G	ExAC,gnomAD
TULP3	O75386	p.Ser374Ala	rs1386260183	missense variant	-	NC_000012.12:g.2938210T>G	gnomAD
TULP3	O75386	p.Tyr375Cys	rs1156494021	missense variant	-	NC_000012.12:g.2938214A>G	gnomAD
TULP3	O75386	p.Tyr375Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2938214A>T	NCI-TCGA
TULP3	O75386	p.Val376Ile	rs1344047379	missense variant	-	NC_000012.12:g.2938216G>A	gnomAD
TULP3	O75386	p.Leu377Val	rs1369598087	missense variant	-	NC_000012.12:g.2938219C>G	TOPMed
TULP3	O75386	p.Asn378Ser	rs759694975	missense variant	-	NC_000012.12:g.2938223A>G	ExAC,gnomAD
TULP3	O75386	p.Arg380Gly	rs767729549	missense variant	-	NC_000012.12:g.2938228C>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg380His	rs113831847	missense variant	-	NC_000012.12:g.2938229G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg382Trp	rs760523025	missense variant	-	NC_000012.12:g.2938234C>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg382Gln	rs764071522	missense variant	-	NC_000012.12:g.2938235G>A	ExAC,gnomAD
TULP3	O75386	p.Val383Asp	rs753760251	missense variant	-	NC_000012.12:g.2938238T>A	ExAC,gnomAD
TULP3	O75386	p.Gln385Arg	rs757253951	missense variant	-	NC_000012.12:g.2938244A>G	ExAC,gnomAD
TULP3	O75386	p.Ala386Glu	rs371955902	missense variant	-	NC_000012.12:g.2938247C>A	ESP,ExAC,gnomAD
TULP3	O75386	p.Ala386Val	rs371955902	missense variant	-	NC_000012.12:g.2938247C>T	ESP,ExAC,gnomAD
TULP3	O75386	p.Val388Leu	rs1482527285	missense variant	-	NC_000012.12:g.2938252G>C	gnomAD
TULP3	O75386	p.Phe391Ser	rs756583357	missense variant	-	NC_000012.12:g.2938262T>C	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Phe391Leu	rs1408433123	missense variant	-	NC_000012.12:g.2938263C>G	TOPMed
TULP3	O75386	p.Gln392Ter	rs1446848744	stop gained	-	NC_000012.12:g.2938264C>T	gnomAD
TULP3	O75386	p.Ile393Thr	rs985314972	missense variant	-	NC_000012.12:g.2938268T>C	TOPMed,gnomAD
TULP3	O75386	p.Val394Ala	rs544419371	missense variant	-	NC_000012.12:g.2938271T>C	1000Genomes,ExAC,gnomAD
TULP3	O75386	p.His395Arg	rs1173360238	missense variant	-	NC_000012.12:g.2938274A>G	TOPMed
TULP3	O75386	p.Asn397MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.2938276A>-	NCI-TCGA
TULP3	O75386	p.Asp398Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2938283A>T	NCI-TCGA
TULP3	O75386	p.Pro399Ala	rs115288066	missense variant	-	NC_000012.12:g.2938285C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Pro399Arg	rs777941550	missense variant	-	NC_000012.12:g.2939311C>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Pro399Ser	rs115288066	missense variant	-	NC_000012.12:g.2938285C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp400Asn	rs754233335	missense variant	-	NC_000012.12:g.2939313G>A	ExAC,gnomAD
TULP3	O75386	p.Tyr401Asp	rs570648183	missense variant	-	NC_000012.12:g.2939316T>G	1000Genomes,ExAC
TULP3	O75386	p.Tyr401His	rs570648183	missense variant	-	NC_000012.12:g.2939316T>C	1000Genomes,ExAC
TULP3	O75386	p.Ile402Met	rs745928595	missense variant	-	NC_000012.12:g.2939321A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Val403Gly	rs772180667	missense variant	-	NC_000012.12:g.2939323T>G	ExAC,gnomAD
TULP3	O75386	p.Met404Val	rs151194786	missense variant	-	NC_000012.12:g.2939325A>G	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Met404Ile	rs747187923	missense variant	-	NC_000012.12:g.2939327G>A	ExAC,gnomAD
TULP3	O75386	p.Gln405Leu	COSM4911013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2939329A>T	NCI-TCGA Cosmic
TULP3	O75386	p.Gln405Lys	rs768940984	missense variant	-	NC_000012.12:g.2939328C>A	ExAC,gnomAD
TULP3	O75386	p.Arg408Cys	rs140237163	missense variant	-	NC_000012.12:g.2939337C>T	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg408Leu	rs761172007	missense variant	-	NC_000012.12:g.2939338G>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Arg408His	rs761172007	missense variant	-	NC_000012.12:g.2939338G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asp412Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.2939349G>A	NCI-TCGA
TULP3	O75386	p.Val413Leu	rs773320390	missense variant	-	NC_000012.12:g.2939352G>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Val413Met	rs773320390	missense variant	-	NC_000012.12:g.2939352G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Phe414Tyr	COSM693400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2939356T>A	NCI-TCGA Cosmic
TULP3	O75386	p.Thr415Ile	rs765935318	missense variant	-	NC_000012.12:g.2939359C>T	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Leu416Arg	rs1233204132	missense variant	-	NC_000012.12:g.2939362T>G	TOPMed
TULP3	O75386	p.Asp417Tyr	COSM1361145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2939364G>T	NCI-TCGA Cosmic
TULP3	O75386	p.Asp417Asn	rs751127572	missense variant	-	NC_000012.12:g.2939364G>A	ExAC,gnomAD
TULP3	O75386	p.Asn419Ser	rs759044001	missense variant	-	NC_000012.12:g.2939371A>G	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Asn419Thr	COSM3986865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.2939371A>C	NCI-TCGA Cosmic
TULP3	O75386	p.Pro421Ser	rs754141781	missense variant	-	NC_000012.12:g.2939376C>T	ExAC,gnomAD
TULP3	O75386	p.Cys423Arg	rs144033598	missense variant	-	NC_000012.12:g.2939382T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Gln426His	rs779362288	missense variant	-	NC_000012.12:g.2939393G>C	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ala427Asp	rs1347475152	missense variant	-	NC_000012.12:g.2939395C>A	TOPMed,gnomAD
TULP3	O75386	p.Gly431Ser	rs758930432	missense variant	-	NC_000012.12:g.2939406G>A	ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ser433Cys	rs747119742	missense variant	-	NC_000012.12:g.2939413C>G	ExAC,gnomAD
TULP3	O75386	p.Ser433Ala	rs1216758183	missense variant	-	NC_000012.12:g.2939412T>G	gnomAD
TULP3	O75386	p.Asp436Asn	rs1222770419	missense variant	-	NC_000012.12:g.2939421G>A	gnomAD
TULP3	O75386	p.Ser437Thr	rs140769882	missense variant	-	NC_000012.12:g.2939425G>C	ESP,ExAC,TOPMed,gnomAD
TULP3	O75386	p.Ala440Val	rs750019336	missense variant	-	NC_000012.12:g.2939434C>T	ExAC,gnomAD
TULP3	O75386	p.Ala440Thr	rs1054107031	missense variant	-	NC_000012.12:g.2939433G>A	TOPMed
TULP3	O75386	p.Ter443Ser	rs769668205	stop lost	-	NC_000012.12:g.2939443G>C	ExAC,gnomAD
SC5D	O75845	p.Asp2Gly	rs754367775	missense variant	-	NC_000011.10:g.121303380A>G	ExAC
SC5D	O75845	p.Leu3Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121303382C>A	NCI-TCGA
SC5D	O75845	p.Leu3Val	rs1314421341	missense variant	-	NC_000011.10:g.121303382C>G	TOPMed
SC5D	O75845	p.Leu3Phe	COSM4018686	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303382C>T	NCI-TCGA Cosmic
SC5D	O75845	p.Val4Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121303385G>C	NCI-TCGA
SC5D	O75845	p.Leu5Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121303388C>A	NCI-TCGA
SC5D	O75845	p.Leu5Phe	rs530515948	missense variant	-	NC_000011.10:g.121303388C>T	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Arg6Cys	rs138026842	missense variant	-	NC_000011.10:g.121303391C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg6His	rs370681255	missense variant	-	NC_000011.10:g.121303392G>A	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg6Pro	rs370681255	missense variant	-	NC_000011.10:g.121303392G>C	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ala8Thr	rs141930747	missense variant	-	NC_000011.10:g.121303397G>A	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ala8Gly	rs780390547	missense variant	-	NC_000011.10:g.121303398C>G	ExAC,gnomAD
SC5D	O75845	p.Asp9His	COSM6067819	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303400G>C	NCI-TCGA Cosmic
SC5D	O75845	p.Tyr11Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121303407A>T	NCI-TCGA
SC5D	O75845	p.Tyr11Cys	rs1312339895	missense variant	-	NC_000011.10:g.121303407A>G	gnomAD
SC5D	O75845	p.Phe12Leu	COSM1351986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303411T>G	NCI-TCGA Cosmic
SC5D	O75845	p.Phe13Leu	rs1258520332	missense variant	-	NC_000011.10:g.121303412T>C	TOPMed
SC5D	O75845	p.Phe13LeuPheSerTerUnkUnk	COSM1973089	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.121303408T>-	NCI-TCGA Cosmic
SC5D	O75845	p.Thr14Ile	rs1376088223	missense variant	-	NC_000011.10:g.121303416C>T	gnomAD
SC5D	O75845	p.Val17Glu	rs755120774	missense variant	-	NC_000011.10:g.121303425T>A	ExAC
SC5D	O75845	p.Val17Met	rs1240163598	missense variant	-	NC_000011.10:g.121303424G>A	TOPMed,gnomAD
SC5D	O75845	p.Val17Leu	COSM6131556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303424G>T	NCI-TCGA Cosmic
SC5D	O75845	p.Pro19Leu	rs781370638	missense variant	-	NC_000011.10:g.121303431C>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ala20Val	rs567132198	missense variant	-	NC_000011.10:g.121303434C>T	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Thr21Ser	rs1279164614	missense variant	-	NC_000011.10:g.121303436A>T	gnomAD
SC5D	O75845	p.Trp22Arg	rs774144359	missense variant	-	NC_000011.10:g.121303439T>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Trp22Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121303441G>T	NCI-TCGA
SC5D	O75845	p.Glu24Gly	rs771701236	missense variant	-	NC_000011.10:g.121303446A>G	ExAC,gnomAD
SC5D	O75845	p.Glu24Lys	rs535006007	missense variant	-	NC_000011.10:g.121303445G>A	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Asp25Glu	rs1290832394	missense variant	-	NC_000011.10:g.121303450T>G	TOPMed
SC5D	O75845	p.Asp25Gly	rs760275444	missense variant	-	NC_000011.10:g.121303449A>G	ExAC,gnomAD
SC5D	O75845	p.Asp25Asn	rs775226186	missense variant	-	NC_000011.10:g.121303448G>A	ExAC,gnomAD
SC5D	O75845	p.Asp26His	COSM1297744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303451G>C	NCI-TCGA Cosmic
SC5D	O75845	p.Ile27Leu	rs1232164381	missense variant	-	NC_000011.10:g.121303454A>C	TOPMed
SC5D	O75845	p.Arg29Ter	rs756641010	stop gained	-	NC_000011.10:g.121303460C>T	ExAC,gnomAD
SC5D	O75845	p.Arg29Gln	RCV000007779	missense variant	Lathosterolosis	NC_000011.10:g.121303461G>A	ClinVar
SC5D	O75845	p.Arg29Gln	rs104894295	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303461G>A	UniProt,dbSNP
SC5D	O75845	p.Arg29Gln	VAR_014423	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303461G>A	UniProt
SC5D	O75845	p.Arg29Gln	rs104894295	missense variant	-	NC_000011.10:g.121303461G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile32Val	rs372774910	missense variant	-	NC_000011.10:g.121303469A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ser33Asn	rs927217561	missense variant	-	NC_000011.10:g.121303473G>A	TOPMed,gnomAD
SC5D	O75845	p.Leu34Pro	rs1392535559	missense variant	-	NC_000011.10:g.121303476T>C	gnomAD
SC5D	O75845	p.Leu35Arg	rs1331473729	missense variant	-	NC_000011.10:g.121303479T>G	gnomAD
SC5D	O75845	p.Asn39His	rs760519059	missense variant	-	NC_000011.10:g.121303490A>C	gnomAD
SC5D	O75845	p.Asn39Asp	rs760519059	missense variant	-	NC_000011.10:g.121303490A>G	gnomAD
SC5D	O75845	p.Val40Ala	COSM924033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303494T>C	NCI-TCGA Cosmic
SC5D	O75845	p.Gly41Ser	rs534057534	missense variant	-	NC_000011.10:g.121303496G>A	gnomAD
SC5D	O75845	p.Gly41Cys	rs534057534	missense variant	-	NC_000011.10:g.121303496G>T	gnomAD
SC5D	O75845	p.Ala42Thr	rs1463404277	missense variant	-	NC_000011.10:g.121303499G>A	TOPMed
SC5D	O75845	p.Ala42Val	rs750889568	missense variant	-	NC_000011.10:g.121303500C>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Tyr43Ser	rs766593498	missense variant	-	NC_000011.10:g.121303503A>C	ExAC,gnomAD
SC5D	O75845	p.Tyr43Cys	rs766593498	missense variant	-	NC_000011.10:g.121303503A>G	ExAC,gnomAD
SC5D	O75845	p.Leu45Ile	rs755292471	missense variant	-	NC_000011.10:g.121303508C>A	ExAC,gnomAD
SC5D	O75845	p.Leu45Pro	rs1196249216	missense variant	-	NC_000011.10:g.121303509T>C	gnomAD
SC5D	O75845	p.Tyr46Cys	rs104894297	missense variant	-	NC_000011.10:g.121303512A>G	ExAC,gnomAD
SC5D	O75845	p.Tyr46Ser	RCV000007781	missense variant	Lathosterolosis	NC_000011.10:g.121303512A>C	ClinVar
SC5D	O75845	p.Tyr46Ser	rs104894297	missense variant	-	NC_000011.10:g.121303512A>C	ExAC,gnomAD
SC5D	O75845	p.Tyr46Ser	rs104894297	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303512A>C	UniProt,dbSNP
SC5D	O75845	p.Tyr46Ser	VAR_020829	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303512A>C	UniProt
SC5D	O75845	p.Phe48Leu	rs748296373	missense variant	-	NC_000011.10:g.121303517T>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ala50Ser	rs1055144144	missense variant	-	NC_000011.10:g.121303523G>T	TOPMed
SC5D	O75845	p.Ala50Val	rs1250250949	missense variant	-	NC_000011.10:g.121303524C>T	TOPMed
SC5D	O75845	p.Ser53Ile	COSM924034	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121303533G>T	NCI-TCGA Cosmic
SC5D	O75845	p.Tyr54Cys	rs1192802427	missense variant	-	NC_000011.10:g.121303536A>G	gnomAD
SC5D	O75845	p.Tyr55Cys	rs778919181	missense variant	-	NC_000011.10:g.121303539A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Val57Leu	rs558820432	missense variant	-	NC_000011.10:g.121303544G>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Asp59Tyr	rs148156529	missense variant	-	NC_000011.10:g.121303550G>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Asp59Asn	rs148156529	missense variant	-	NC_000011.10:g.121303550G>A	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met63Thr	rs1170105159	missense variant	-	NC_000011.10:g.121303563T>C	gnomAD
SC5D	O75845	p.Met63Ile	rs202105637	missense variant	-	NC_000011.10:g.121303564G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met63Ile	rs202105637	missense variant	-	NC_000011.10:g.121303564G>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Lys64Glu	rs199546863	missense variant	-	NC_000011.10:g.121303565A>G	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Pro66Arg	rs1377640597	missense variant	-	NC_000011.10:g.121303572C>G	gnomAD
SC5D	O75845	p.Gln72Glu	rs753911880	missense variant	-	NC_000011.10:g.121304364C>G	ExAC,gnomAD
SC5D	O75845	p.Gln72Ter	rs753911880	stop gained	-	NC_000011.10:g.121304364C>T	ExAC,gnomAD
SC5D	O75845	p.Arg74Leu	rs762728349	missense variant	-	NC_000011.10:g.121304371G>T	TOPMed,gnomAD
SC5D	O75845	p.Arg74His	rs762728349	missense variant	-	NC_000011.10:g.121304371G>A	TOPMed,gnomAD
SC5D	O75845	p.Arg74Cys	rs142031519	missense variant	-	NC_000011.10:g.121304370C>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg75Ter	rs1313359281	stop gained	-	NC_000011.10:g.121304373C>T	gnomAD
SC5D	O75845	p.Arg75Gln	rs780028779	missense variant	-	NC_000011.10:g.121304374G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg75Leu	rs780028779	missense variant	-	NC_000011.10:g.121304374G>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg75Gln	RCV000298324	missense variant	Lathosterolosis	NC_000011.10:g.121304374G>A	ClinVar
SC5D	O75845	p.Glu76Ala	rs1221482911	missense variant	-	NC_000011.10:g.121304377A>C	TOPMed
SC5D	O75845	p.Glu76Val	COSM466472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121304377A>T	NCI-TCGA Cosmic
SC5D	O75845	p.Val81Ala	rs751428422	missense variant	-	NC_000011.10:g.121304392T>C	ExAC,gnomAD
SC5D	O75845	p.Ala83Thr	rs1306108295	missense variant	-	NC_000011.10:g.121304397G>A	gnomAD
SC5D	O75845	p.Trp86Cys	rs780916225	missense variant	-	NC_000011.10:g.121304408G>T	ExAC
SC5D	O75845	p.Ile87Leu	rs1241382389	missense variant	-	NC_000011.10:g.121304409A>T	gnomAD
SC5D	O75845	p.Leu90Ile	rs747864647	missense variant	-	NC_000011.10:g.121304418C>A	ExAC,gnomAD
SC5D	O75845	p.Thr91Ile	rs1318464799	missense variant	-	NC_000011.10:g.121304422C>T	gnomAD
SC5D	O75845	p.Ala93Thr	rs769370760	missense variant	-	NC_000011.10:g.121304427G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Leu96Trp	rs1176968853	missense variant	-	NC_000011.10:g.121304437T>G	gnomAD
SC5D	O75845	p.Glu98Asp	rs367613150	missense variant	-	NC_000011.10:g.121304444G>C	ESP
SC5D	O75845	p.Ile99Met	rs748818735	missense variant	-	NC_000011.10:g.121304447A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile99Val	rs1251614258	missense variant	-	NC_000011.10:g.121304445A>G	gnomAD
SC5D	O75845	p.Gly101Cys	rs770499900	missense variant	-	NC_000011.10:g.121304451G>T	ExAC,gnomAD
SC5D	O75845	p.Gly101Asp	rs907885684	missense variant	-	NC_000011.10:g.121304452G>A	TOPMed,gnomAD
SC5D	O75845	p.Gly101Ser	rs770499900	missense variant	-	NC_000011.10:g.121304451G>A	ExAC,gnomAD
SC5D	O75845	p.Asp107Asn	rs760074441	missense variant	-	NC_000011.10:g.121304469G>A	ExAC,TOPMed
SC5D	O75845	p.Asp108Asn	rs1360822726	missense variant	-	NC_000011.10:g.121304472G>A	gnomAD
SC5D	O75845	p.Asp108Gly	rs772599957	missense variant	-	NC_000011.10:g.121304473A>G	ExAC,gnomAD
SC5D	O75845	p.Asp108His	COSM686812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121304472G>C	NCI-TCGA Cosmic
SC5D	O75845	p.Leu109LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.121304474_121304475insAAAA	NCI-TCGA
SC5D	O75845	p.Pro113Ser	rs1301468278	missense variant	-	NC_000011.10:g.121304487C>T	TOPMed,gnomAD
SC5D	O75845	p.Tyr114Cys	rs761081505	missense variant	-	NC_000011.10:g.121304491A>G	ExAC
SC5D	O75845	p.Leu119Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121306397C>T	NCI-TCGA
SC5D	O75845	p.Leu119His	rs1163997112	missense variant	-	NC_000011.10:g.121306398T>A	TOPMed
SC5D	O75845	p.Val121Ile	rs35536707	missense variant	-	NC_000011.10:g.121306403G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile123Leu	rs138907200	missense variant	-	NC_000011.10:g.121306409A>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile123Met	rs778688994	missense variant	-	NC_000011.10:g.121306411A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile123Val	rs138907200	missense variant	-	NC_000011.10:g.121306409A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile124Met	rs374351203	missense variant	-	NC_000011.10:g.121306414A>G	ESP,ExAC,gnomAD
SC5D	O75845	p.Ile124Leu	rs745432119	missense variant	-	NC_000011.10:g.121306412A>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile124Val	rs745432119	missense variant	-	NC_000011.10:g.121306412A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile124Thr	rs948838311	missense variant	-	NC_000011.10:g.121306413T>C	TOPMed
SC5D	O75845	p.Leu127IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.121306419_121306420insCATCATAGGGGTTCAAGAA	NCI-TCGA
SC5D	O75845	p.Met132Ile	rs747487483	missense variant	-	NC_000011.10:g.121306438G>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met132Lys	rs1291553688	missense variant	-	NC_000011.10:g.121306437T>A	gnomAD
SC5D	O75845	p.Phe133Leu	rs907365711	missense variant	-	NC_000011.10:g.121306441C>G	TOPMed,gnomAD
SC5D	O75845	p.Ile134Thr	rs768923312	missense variant	-	NC_000011.10:g.121306443T>C	ExAC,gnomAD
SC5D	O75845	p.Tyr135Cys	rs777014268	missense variant	-	NC_000011.10:g.121306446A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Trp136Arg	rs748479057	missense variant	-	NC_000011.10:g.121306448T>A	ExAC,gnomAD
SC5D	O75845	p.Trp136Ter	rs1417104311	stop gained	-	NC_000011.10:g.121306449G>A	gnomAD
SC5D	O75845	p.Ile137Val	rs1475398906	missense variant	-	NC_000011.10:g.121306451A>G	gnomAD
SC5D	O75845	p.Gly140Ser	rs770048983	missense variant	-	NC_000011.10:g.121306460G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Gly140Cys	rs770048983	missense variant	-	NC_000011.10:g.121306460G>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.His142Pro	rs1406055563	missense variant	-	NC_000011.10:g.121306467A>C	gnomAD
SC5D	O75845	p.His143Arg	rs773419961	missense variant	-	NC_000011.10:g.121306470A>G	ExAC,gnomAD
SC5D	O75845	p.Arg144Ile	rs1160124045	missense variant	-	NC_000011.10:g.121306473G>T	TOPMed,gnomAD
SC5D	O75845	p.Leu145LeuLysHisTyrLysTerSerUnk	rs745945948	stop gained	-	NC_000011.10:g.121306476_121306477insCAAACATTATAAATGATCT	ExAC,gnomAD
SC5D	O75845	p.Val146Ile	rs763026861	missense variant	-	NC_000011.10:g.121306478G>A	ExAC,gnomAD
SC5D	O75845	p.Val146Leu	rs763026861	missense variant	-	NC_000011.10:g.121306478G>T	ExAC,gnomAD
SC5D	O75845	p.Tyr147His	rs770986028	missense variant	-	NC_000011.10:g.121306481T>C	ExAC,gnomAD
SC5D	O75845	p.Lys148Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121306485A>T	NCI-TCGA
SC5D	O75845	p.Lys148Glu	rs775350797	missense variant	-	NC_000011.10:g.121306484A>G	TOPMed,gnomAD
SC5D	O75845	p.Lys148Asn	rs1450599623	missense variant	-	NC_000011.10:g.121306486G>C	gnomAD
SC5D	O75845	p.Arg149Cys	rs142025005	missense variant	-	NC_000011.10:g.121307057C>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg149His	rs372030710	missense variant	-	NC_000011.10:g.121307058G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.His151Arg	rs373383957	missense variant	-	NC_000011.10:g.121307064A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.His151Tyr	rs1359279182	missense variant	-	NC_000011.10:g.121307063C>T	gnomAD
SC5D	O75845	p.His154Arg	COSM1351988	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307073A>G	NCI-TCGA Cosmic
SC5D	O75845	p.Ile159Met	rs1353543186	missense variant	-	NC_000011.10:g.121307089T>G	gnomAD
SC5D	O75845	p.Pro160His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121307091C>A	NCI-TCGA
SC5D	O75845	p.Pro160Ser	rs146322594	missense variant	-	NC_000011.10:g.121307090C>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Pro162Ala	rs1313249063	missense variant	-	NC_000011.10:g.121307096C>G	gnomAD
SC5D	O75845	p.Ala164Thr	rs756654792	missense variant	-	NC_000011.10:g.121307102G>A	ExAC,gnomAD
SC5D	O75845	p.Ser165Gly	rs1260386081	missense variant	-	NC_000011.10:g.121307105A>G	gnomAD
SC5D	O75845	p.Ile171Val	rs139637037	missense variant	-	NC_000011.10:g.121307123A>G	ESP
SC5D	O75845	p.Gly173Ala	rs764566210	missense variant	-	NC_000011.10:g.121307130G>C	ExAC
SC5D	O75845	p.Gln176Arg	rs754288880	missense variant	-	NC_000011.10:g.121307139A>G	ExAC,gnomAD
SC5D	O75845	p.Ser177Asn	rs1182798978	missense variant	-	NC_000011.10:g.121307142G>A	TOPMed,gnomAD
SC5D	O75845	p.Leu178Arg	COSM1351989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307145T>G	NCI-TCGA Cosmic
SC5D	O75845	p.Pro179Ser	rs757562608	missense variant	-	NC_000011.10:g.121307147C>T	ExAC,gnomAD
SC5D	O75845	p.Tyr180Ter	rs779204454	stop gained	-	NC_000011.10:g.121307152C>G	ExAC,gnomAD
SC5D	O75845	p.His181Arg	rs746016466	missense variant	-	NC_000011.10:g.121307154A>G	ExAC,gnomAD
SC5D	O75845	p.Ile182Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121307157T>C	NCI-TCGA
SC5D	O75845	p.Ile182Val	rs144180704	missense variant	-	NC_000011.10:g.121307156A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile182Met	rs780238470	missense variant	-	NC_000011.10:g.121307158A>G	ExAC,gnomAD
SC5D	O75845	p.Tyr183His	rs747051432	missense variant	-	NC_000011.10:g.121307159T>C	ExAC,gnomAD
SC5D	O75845	p.Pro184His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121307163C>A	NCI-TCGA
SC5D	O75845	p.Phe185Tyr	rs1239820473	missense variant	-	NC_000011.10:g.121307166T>A	TOPMed
SC5D	O75845	p.Phe185Cys	rs1239820473	missense variant	-	NC_000011.10:g.121307166T>G	TOPMed
SC5D	O75845	p.Phe187Cys	COSM1351990	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307172T>G	NCI-TCGA Cosmic
SC5D	O75845	p.Pro188Gln	rs1465426900	missense variant	-	NC_000011.10:g.121307175C>A	TOPMed,gnomAD
SC5D	O75845	p.Pro188Leu	rs1465426900	missense variant	-	NC_000011.10:g.121307175C>T	TOPMed,gnomAD
SC5D	O75845	p.Leu189Ser	rs769900227	missense variant	-	NC_000011.10:g.121307178T>C	ExAC,gnomAD
SC5D	O75845	p.His190Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121307181A>T	NCI-TCGA
SC5D	O75845	p.His190Tyr	rs1223198009	missense variant	-	NC_000011.10:g.121307180C>T	TOPMed
SC5D	O75845	p.Lys191Arg	rs1389492973	missense variant	-	NC_000011.10:g.121307184A>G	gnomAD
SC5D	O75845	p.Val192Met	rs773269151	missense variant	-	NC_000011.10:g.121307186G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Tyr194Phe	rs749173837	missense variant	-	NC_000011.10:g.121307193A>T	ExAC,gnomAD
SC5D	O75845	p.Ser196Thr	rs376481131	missense variant	-	NC_000011.10:g.121307199G>C	ESP,ExAC,gnomAD
SC5D	O75845	p.Tyr198His	rs1305350298	missense variant	-	NC_000011.10:g.121307204T>C	TOPMed
SC5D	O75845	p.Tyr198Phe	COSM6131555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307205A>T	NCI-TCGA Cosmic
SC5D	O75845	p.Leu200Ser	rs144254550	missense variant	-	NC_000011.10:g.121307211T>C	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile203Ser	rs767126672	missense variant	-	NC_000011.10:g.121307220T>G	ExAC,gnomAD
SC5D	O75845	p.Thr205Ile	rs775033618	missense variant	-	NC_000011.10:g.121307226C>T	ExAC,gnomAD
SC5D	O75845	p.Ile206Val	rs1237177836	missense variant	-	NC_000011.10:g.121307228A>G	TOPMed,gnomAD
SC5D	O75845	p.Ile208Val	rs1454877350	missense variant	-	NC_000011.10:g.121307234A>G	TOPMed
SC5D	O75845	p.His209Arg	COSM6131554	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307238A>G	NCI-TCGA Cosmic
SC5D	O75845	p.Asp210Glu	rs760167278	missense variant	-	NC_000011.10:g.121307242C>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Gly211Asp	RCV000007780	missense variant	Lathosterolosis	NC_000011.10:g.121307244G>A	ClinVar
SC5D	O75845	p.Gly211Ser	rs757168329	missense variant	-	NC_000011.10:g.121307243G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Gly211Asp	rs104894296	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121307244G>A	UniProt,dbSNP
SC5D	O75845	p.Gly211Asp	VAR_014424	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121307244G>A	UniProt
SC5D	O75845	p.Gly211Asp	rs104894296	missense variant	-	NC_000011.10:g.121307244G>A	-
SC5D	O75845	p.Gly211Arg	rs757168329	missense variant	-	NC_000011.10:g.121307243G>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Phe213LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.121307247_121307263ATTTTCGTGTCCCCCAA>-	NCI-TCGA
SC5D	O75845	p.Arg214His	rs148689830	missense variant	-	NC_000011.10:g.121307253G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg214Cys	rs757650933	missense variant	-	NC_000011.10:g.121307252C>T	ExAC,gnomAD
SC5D	O75845	p.Val215Ile	rs1176651647	missense variant	-	NC_000011.10:g.121307255G>A	gnomAD
SC5D	O75845	p.Gln217Ter	rs370879876	stop gained	-	NC_000011.10:g.121307261C>T	ESP,TOPMed
SC5D	O75845	p.Gln217His	rs373065072	missense variant	-	NC_000011.10:g.121307263A>C	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile218Val	rs546458364	missense variant	-	NC_000011.10:g.121307264A>G	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Gln220Glu	rs1262313527	missense variant	-	NC_000011.10:g.121307270C>G	TOPMed
SC5D	O75845	p.Pro221Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121307274C>A	NCI-TCGA
SC5D	O75845	p.Pro221Ser	rs747141427	missense variant	-	NC_000011.10:g.121307273C>T	ExAC,gnomAD
SC5D	O75845	p.Phe222Cys	COSM257950	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307277T>G	NCI-TCGA Cosmic
SC5D	O75845	p.Ala227Pro	rs1301537043	missense variant	-	NC_000011.10:g.121307291G>C	gnomAD
SC5D	O75845	p.His228Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121307294C>T	NCI-TCGA
SC5D	O75845	p.His229Arg	rs371081823	missense variant	-	NC_000011.10:g.121307298A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Thr230Ala	rs1261338202	missense variant	-	NC_000011.10:g.121307300A>G	TOPMed
SC5D	O75845	p.Asp231Asn	rs142234975	missense variant	-	NC_000011.10:g.121307303G>A	ESP,TOPMed
SC5D	O75845	p.His232Arg	rs151190785	missense variant	-	NC_000011.10:g.121307307A>G	ExAC,gnomAD
SC5D	O75845	p.Met234Ile	rs778614572	missense variant	-	NC_000011.10:g.121307314G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met234Ile	rs778614572	missense variant	-	NC_000011.10:g.121307314G>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met234Val	rs770791777	missense variant	-	NC_000011.10:g.121307312A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Asp237Glu	rs141293946	missense variant	-	NC_000011.10:g.121307323C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Asp237Val	rs745655742	missense variant	-	NC_000011.10:g.121307322A>T	ExAC,gnomAD
SC5D	O75845	p.Tyr238Cys	rs1250786427	missense variant	-	NC_000011.10:g.121307325A>G	TOPMed,gnomAD
SC5D	O75845	p.Gln242Arg	rs1244071186	missense variant	-	NC_000011.10:g.121307337A>G	gnomAD
SC5D	O75845	p.Gly251Asp	rs768100179	missense variant	-	NC_000011.10:g.121307364G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ser253Leu	rs762183407	missense variant	-	NC_000011.10:g.121307370C>T	ExAC,gnomAD
SC5D	O75845	p.Ser258Leu	rs765742077	missense variant	-	NC_000011.10:g.121307385C>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ser259Phe	COSM3444346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.121307388C>T	NCI-TCGA Cosmic
SC5D	O75845	p.Glu261Gly	rs1324083070	missense variant	-	NC_000011.10:g.121307394A>G	TOPMed,gnomAD
SC5D	O75845	p.Lys263Thr	rs980102323	missense variant	-	NC_000011.10:g.121307400A>C	TOPMed
SC5D	O75845	p.Lys263Ter	rs1474952519	stop gained	-	NC_000011.10:g.121307399A>T	TOPMed
SC5D	O75845	p.Pro265Leu	rs745380178	missense variant	-	NC_000011.10:g.121307406C>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Tyr268Cys	rs960058373	missense variant	-	NC_000011.10:g.121307415A>G	TOPMed
SC5D	O75845	p.Val269Leu	rs1196786926	missense variant	-	NC_000011.10:g.121307417G>C	TOPMed,gnomAD
SC5D	O75845	p.Glu271Asp	rs367727061	missense variant	-	NC_000011.10:g.121307425G>C	ESP,TOPMed
SC5D	O75845	p.Met272Val	rs1320403076	missense variant	-	NC_000011.10:g.121307426A>G	TOPMed,gnomAD
SC5D	O75845	p.Met272Thr	rs766772523	missense variant	-	NC_000011.10:g.121307427T>C	ExAC,gnomAD
SC5D	O75845	p.Lys276Glu	rs751763860	missense variant	-	NC_000011.10:g.121307438A>G	ExAC,gnomAD
SC5D	O75845	p.Arg277Leu	rs114578771	missense variant	-	NC_000011.10:g.121307442G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg277Cys	rs118099079	missense variant	-	NC_000011.10:g.121307441C>T	1000Genomes,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg277His	rs114578771	missense variant	-	NC_000011.10:g.121307442G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ser278Thr	rs757191362	missense variant	-	NC_000011.10:g.121307445G>C	ExAC,gnomAD
SC5D	O75845	p.Ser278Asn	rs757191362	missense variant	-	NC_000011.10:g.121307445G>A	ExAC,gnomAD
SC5D	O75845	p.Gly284Ser	rs745732638	missense variant	-	NC_000011.10:g.121307462G>A	ExAC,gnomAD
SC5D	O75845	p.Lys286Asn	rs1230188994	missense variant	-	NC_000011.10:g.121307470G>C	TOPMed
SC5D	O75845	p.Glu288Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.121307474G>A	NCI-TCGA
SC5D	O75845	p.Phe291Leu	rs771792307	missense variant	-	NC_000011.10:g.121307483T>C	ExAC,gnomAD
SC5D	O75845	p.Asn292Asp	rs771541681	missense variant	-	NC_000011.10:g.121307486A>G	TOPMed
SC5D	O75845	p.Asn292Ser	rs367608610	missense variant	-	NC_000011.10:g.121307487A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Glu294Gly	rs768181937	missense variant	-	NC_000011.10:g.121307493A>G	ExAC,gnomAD
SC5D	O75845	p.Glu294Asp	rs776041178	missense variant	-	NC_000011.10:g.121307494G>C	ExAC,gnomAD
SC5D	O75845	p.Phe295Leu	rs1049044204	missense variant	-	NC_000011.10:g.121307497T>A	TOPMed,gnomAD
SC5D	O75845	p.Thr296Ala	rs1299311512	missense variant	-	NC_000011.10:g.121307498A>G	gnomAD
SC5D	O75845	p.Thr296Ile	rs1422744827	missense variant	-	NC_000011.10:g.121307499C>T	gnomAD
SC5D	O75845	p.Lys297Glu	rs761361460	missense variant	-	NC_000011.10:g.121307501A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Thr298Ser	rs1169447482	missense variant	-	NC_000011.10:g.121307505C>G	TOPMed
SC5D	O75845	p.Asp2Gly	rs754367775	missense variant	-	NC_000011.10:g.121303380A>G	ExAC
SC5D	O75845	p.Leu3Val	rs1314421341	missense variant	-	NC_000011.10:g.121303382C>G	TOPMed
SC5D	O75845	p.Leu5Phe	rs530515948	missense variant	-	NC_000011.10:g.121303388C>T	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Arg6Cys	rs138026842	missense variant	-	NC_000011.10:g.121303391C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg6His	rs370681255	missense variant	-	NC_000011.10:g.121303392G>A	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg6Pro	rs370681255	missense variant	-	NC_000011.10:g.121303392G>C	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ala8Thr	rs141930747	missense variant	-	NC_000011.10:g.121303397G>A	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ala8Gly	rs780390547	missense variant	-	NC_000011.10:g.121303398C>G	ExAC,gnomAD
SC5D	O75845	p.Tyr11Cys	rs1312339895	missense variant	-	NC_000011.10:g.121303407A>G	gnomAD
SC5D	O75845	p.Phe13Leu	rs1258520332	missense variant	-	NC_000011.10:g.121303412T>C	TOPMed
SC5D	O75845	p.Thr14Ile	rs1376088223	missense variant	-	NC_000011.10:g.121303416C>T	gnomAD
SC5D	O75845	p.Val17Glu	rs755120774	missense variant	-	NC_000011.10:g.121303425T>A	ExAC
SC5D	O75845	p.Val17Met	rs1240163598	missense variant	-	NC_000011.10:g.121303424G>A	TOPMed,gnomAD
SC5D	O75845	p.Pro19Leu	rs781370638	missense variant	-	NC_000011.10:g.121303431C>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ala20Val	rs567132198	missense variant	-	NC_000011.10:g.121303434C>T	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Thr21Ser	rs1279164614	missense variant	-	NC_000011.10:g.121303436A>T	gnomAD
SC5D	O75845	p.Trp22Arg	rs774144359	missense variant	-	NC_000011.10:g.121303439T>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Glu24Lys	rs535006007	missense variant	-	NC_000011.10:g.121303445G>A	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Glu24Gly	rs771701236	missense variant	-	NC_000011.10:g.121303446A>G	ExAC,gnomAD
SC5D	O75845	p.Asp25Glu	rs1290832394	missense variant	-	NC_000011.10:g.121303450T>G	TOPMed
SC5D	O75845	p.Asp25Gly	rs760275444	missense variant	-	NC_000011.10:g.121303449A>G	ExAC,gnomAD
SC5D	O75845	p.Asp25Asn	rs775226186	missense variant	-	NC_000011.10:g.121303448G>A	ExAC,gnomAD
SC5D	O75845	p.Ile27Leu	rs1232164381	missense variant	-	NC_000011.10:g.121303454A>C	TOPMed
SC5D	O75845	p.Arg29Ter	rs756641010	stop gained	-	NC_000011.10:g.121303460C>T	ExAC,gnomAD
SC5D	O75845	p.Arg29Gln	rs104894295	missense variant	-	NC_000011.10:g.121303461G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg29Gln	rs104894295	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303461G>A	UniProt,dbSNP
SC5D	O75845	p.Arg29Gln	VAR_014423	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303461G>A	UniProt
SC5D	O75845	p.Arg29Gln	RCV000007779	missense variant	Lathosterolosis	NC_000011.10:g.121303461G>A	ClinVar
SC5D	O75845	p.Ile32Val	rs372774910	missense variant	-	NC_000011.10:g.121303469A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ser33Asn	rs927217561	missense variant	-	NC_000011.10:g.121303473G>A	TOPMed,gnomAD
SC5D	O75845	p.Leu34Pro	rs1392535559	missense variant	-	NC_000011.10:g.121303476T>C	gnomAD
SC5D	O75845	p.Leu35Arg	rs1331473729	missense variant	-	NC_000011.10:g.121303479T>G	gnomAD
SC5D	O75845	p.Asn39His	rs760519059	missense variant	-	NC_000011.10:g.121303490A>C	gnomAD
SC5D	O75845	p.Asn39Asp	rs760519059	missense variant	-	NC_000011.10:g.121303490A>G	gnomAD
SC5D	O75845	p.Gly41Ser	rs534057534	missense variant	-	NC_000011.10:g.121303496G>A	gnomAD
SC5D	O75845	p.Gly41Cys	rs534057534	missense variant	-	NC_000011.10:g.121303496G>T	gnomAD
SC5D	O75845	p.Ala42Thr	rs1463404277	missense variant	-	NC_000011.10:g.121303499G>A	TOPMed
SC5D	O75845	p.Ala42Val	rs750889568	missense variant	-	NC_000011.10:g.121303500C>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Tyr43Cys	rs766593498	missense variant	-	NC_000011.10:g.121303503A>G	ExAC,gnomAD
SC5D	O75845	p.Tyr43Ser	rs766593498	missense variant	-	NC_000011.10:g.121303503A>C	ExAC,gnomAD
SC5D	O75845	p.Leu45Ile	rs755292471	missense variant	-	NC_000011.10:g.121303508C>A	ExAC,gnomAD
SC5D	O75845	p.Leu45Pro	rs1196249216	missense variant	-	NC_000011.10:g.121303509T>C	gnomAD
SC5D	O75845	p.Tyr46Cys	rs104894297	missense variant	-	NC_000011.10:g.121303512A>G	ExAC,gnomAD
SC5D	O75845	p.Tyr46Ser	RCV000007781	missense variant	Lathosterolosis	NC_000011.10:g.121303512A>C	ClinVar
SC5D	O75845	p.Tyr46Ser	rs104894297	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303512A>C	UniProt,dbSNP
SC5D	O75845	p.Tyr46Ser	VAR_020829	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121303512A>C	UniProt
SC5D	O75845	p.Tyr46Ser	rs104894297	missense variant	-	NC_000011.10:g.121303512A>C	ExAC,gnomAD
SC5D	O75845	p.Phe48Leu	rs748296373	missense variant	-	NC_000011.10:g.121303517T>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ala50Ser	rs1055144144	missense variant	-	NC_000011.10:g.121303523G>T	TOPMed
SC5D	O75845	p.Ala50Val	rs1250250949	missense variant	-	NC_000011.10:g.121303524C>T	TOPMed
SC5D	O75845	p.Tyr54Cys	rs1192802427	missense variant	-	NC_000011.10:g.121303536A>G	gnomAD
SC5D	O75845	p.Tyr55Cys	rs778919181	missense variant	-	NC_000011.10:g.121303539A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Val57Leu	rs558820432	missense variant	-	NC_000011.10:g.121303544G>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Asp59Tyr	rs148156529	missense variant	-	NC_000011.10:g.121303550G>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Asp59Asn	rs148156529	missense variant	-	NC_000011.10:g.121303550G>A	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met63Thr	rs1170105159	missense variant	-	NC_000011.10:g.121303563T>C	gnomAD
SC5D	O75845	p.Met63Ile	rs202105637	missense variant	-	NC_000011.10:g.121303564G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met63Ile	rs202105637	missense variant	-	NC_000011.10:g.121303564G>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Lys64Glu	rs199546863	missense variant	-	NC_000011.10:g.121303565A>G	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Pro66Arg	rs1377640597	missense variant	-	NC_000011.10:g.121303572C>G	gnomAD
SC5D	O75845	p.Gln72Glu	rs753911880	missense variant	-	NC_000011.10:g.121304364C>G	ExAC,gnomAD
SC5D	O75845	p.Gln72Ter	rs753911880	stop gained	-	NC_000011.10:g.121304364C>T	ExAC,gnomAD
SC5D	O75845	p.Arg74Leu	rs762728349	missense variant	-	NC_000011.10:g.121304371G>T	TOPMed,gnomAD
SC5D	O75845	p.Arg74His	rs762728349	missense variant	-	NC_000011.10:g.121304371G>A	TOPMed,gnomAD
SC5D	O75845	p.Arg74Cys	rs142031519	missense variant	-	NC_000011.10:g.121304370C>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg75Leu	rs780028779	missense variant	-	NC_000011.10:g.121304374G>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg75Ter	rs1313359281	stop gained	-	NC_000011.10:g.121304373C>T	gnomAD
SC5D	O75845	p.Arg75Gln	rs780028779	missense variant	-	NC_000011.10:g.121304374G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg75Gln	RCV000298324	missense variant	Lathosterolosis	NC_000011.10:g.121304374G>A	ClinVar
SC5D	O75845	p.Glu76Ala	rs1221482911	missense variant	-	NC_000011.10:g.121304377A>C	TOPMed
SC5D	O75845	p.Val81Ala	rs751428422	missense variant	-	NC_000011.10:g.121304392T>C	ExAC,gnomAD
SC5D	O75845	p.Ala83Thr	rs1306108295	missense variant	-	NC_000011.10:g.121304397G>A	gnomAD
SC5D	O75845	p.Trp86Cys	rs780916225	missense variant	-	NC_000011.10:g.121304408G>T	ExAC
SC5D	O75845	p.Ile87Leu	rs1241382389	missense variant	-	NC_000011.10:g.121304409A>T	gnomAD
SC5D	O75845	p.Leu90Ile	rs747864647	missense variant	-	NC_000011.10:g.121304418C>A	ExAC,gnomAD
SC5D	O75845	p.Thr91Ile	rs1318464799	missense variant	-	NC_000011.10:g.121304422C>T	gnomAD
SC5D	O75845	p.Ala93Thr	rs769370760	missense variant	-	NC_000011.10:g.121304427G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Leu96Trp	rs1176968853	missense variant	-	NC_000011.10:g.121304437T>G	gnomAD
SC5D	O75845	p.Glu98Asp	rs367613150	missense variant	-	NC_000011.10:g.121304444G>C	ESP
SC5D	O75845	p.Ile99Met	rs748818735	missense variant	-	NC_000011.10:g.121304447A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile99Val	rs1251614258	missense variant	-	NC_000011.10:g.121304445A>G	gnomAD
SC5D	O75845	p.Gly101Cys	rs770499900	missense variant	-	NC_000011.10:g.121304451G>T	ExAC,gnomAD
SC5D	O75845	p.Gly101Asp	rs907885684	missense variant	-	NC_000011.10:g.121304452G>A	TOPMed,gnomAD
SC5D	O75845	p.Gly101Ser	rs770499900	missense variant	-	NC_000011.10:g.121304451G>A	ExAC,gnomAD
SC5D	O75845	p.Asp107Asn	rs760074441	missense variant	-	NC_000011.10:g.121304469G>A	ExAC,TOPMed
SC5D	O75845	p.Asp108Asn	rs1360822726	missense variant	-	NC_000011.10:g.121304472G>A	gnomAD
SC5D	O75845	p.Asp108Gly	rs772599957	missense variant	-	NC_000011.10:g.121304473A>G	ExAC,gnomAD
SC5D	O75845	p.Pro113Ser	rs1301468278	missense variant	-	NC_000011.10:g.121304487C>T	TOPMed,gnomAD
SC5D	O75845	p.Tyr114Cys	rs761081505	missense variant	-	NC_000011.10:g.121304491A>G	ExAC
SC5D	O75845	p.Leu119His	rs1163997112	missense variant	-	NC_000011.10:g.121306398T>A	TOPMed
SC5D	O75845	p.Val121Ile	rs35536707	missense variant	-	NC_000011.10:g.121306403G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile123Leu	rs138907200	missense variant	-	NC_000011.10:g.121306409A>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile123Val	rs138907200	missense variant	-	NC_000011.10:g.121306409A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile123Met	rs778688994	missense variant	-	NC_000011.10:g.121306411A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile124Met	rs374351203	missense variant	-	NC_000011.10:g.121306414A>G	ESP,ExAC,gnomAD
SC5D	O75845	p.Ile124Leu	rs745432119	missense variant	-	NC_000011.10:g.121306412A>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile124Val	rs745432119	missense variant	-	NC_000011.10:g.121306412A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile124Thr	rs948838311	missense variant	-	NC_000011.10:g.121306413T>C	TOPMed
SC5D	O75845	p.Met132Ile	rs747487483	missense variant	-	NC_000011.10:g.121306438G>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met132Lys	rs1291553688	missense variant	-	NC_000011.10:g.121306437T>A	gnomAD
SC5D	O75845	p.Phe133Leu	rs907365711	missense variant	-	NC_000011.10:g.121306441C>G	TOPMed,gnomAD
SC5D	O75845	p.Ile134Thr	rs768923312	missense variant	-	NC_000011.10:g.121306443T>C	ExAC,gnomAD
SC5D	O75845	p.Tyr135Cys	rs777014268	missense variant	-	NC_000011.10:g.121306446A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Trp136Arg	rs748479057	missense variant	-	NC_000011.10:g.121306448T>A	ExAC,gnomAD
SC5D	O75845	p.Trp136Ter	rs1417104311	stop gained	-	NC_000011.10:g.121306449G>A	gnomAD
SC5D	O75845	p.Ile137Val	rs1475398906	missense variant	-	NC_000011.10:g.121306451A>G	gnomAD
SC5D	O75845	p.Gly140Ser	rs770048983	missense variant	-	NC_000011.10:g.121306460G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Gly140Cys	rs770048983	missense variant	-	NC_000011.10:g.121306460G>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.His142Pro	rs1406055563	missense variant	-	NC_000011.10:g.121306467A>C	gnomAD
SC5D	O75845	p.His143Arg	rs773419961	missense variant	-	NC_000011.10:g.121306470A>G	ExAC,gnomAD
SC5D	O75845	p.Arg144Ile	rs1160124045	missense variant	-	NC_000011.10:g.121306473G>T	TOPMed,gnomAD
SC5D	O75845	p.Leu145LeuLysHisTyrLysTerSerUnk	rs745945948	stop gained	-	NC_000011.10:g.121306476_121306477insCAAACATTATAAATGATCT	ExAC,gnomAD
SC5D	O75845	p.Val146Leu	rs763026861	missense variant	-	NC_000011.10:g.121306478G>T	ExAC,gnomAD
SC5D	O75845	p.Val146Ile	rs763026861	missense variant	-	NC_000011.10:g.121306478G>A	ExAC,gnomAD
SC5D	O75845	p.Tyr147His	rs770986028	missense variant	-	NC_000011.10:g.121306481T>C	ExAC,gnomAD
SC5D	O75845	p.Lys148Asn	rs1450599623	missense variant	-	NC_000011.10:g.121306486G>C	gnomAD
SC5D	O75845	p.Lys148Glu	rs775350797	missense variant	-	NC_000011.10:g.121306484A>G	TOPMed,gnomAD
SC5D	O75845	p.Arg149Cys	rs142025005	missense variant	-	NC_000011.10:g.121307057C>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg149His	rs372030710	missense variant	-	NC_000011.10:g.121307058G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.His151Arg	rs373383957	missense variant	-	NC_000011.10:g.121307064A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.His151Tyr	rs1359279182	missense variant	-	NC_000011.10:g.121307063C>T	gnomAD
SC5D	O75845	p.Ile159Met	rs1353543186	missense variant	-	NC_000011.10:g.121307089T>G	gnomAD
SC5D	O75845	p.Pro160Ser	rs146322594	missense variant	-	NC_000011.10:g.121307090C>T	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Pro162Ala	rs1313249063	missense variant	-	NC_000011.10:g.121307096C>G	gnomAD
SC5D	O75845	p.Ala164Thr	rs756654792	missense variant	-	NC_000011.10:g.121307102G>A	ExAC,gnomAD
SC5D	O75845	p.Ser165Gly	rs1260386081	missense variant	-	NC_000011.10:g.121307105A>G	gnomAD
SC5D	O75845	p.Ile171Val	rs139637037	missense variant	-	NC_000011.10:g.121307123A>G	ESP
SC5D	O75845	p.Gly173Ala	rs764566210	missense variant	-	NC_000011.10:g.121307130G>C	ExAC
SC5D	O75845	p.Gln176Arg	rs754288880	missense variant	-	NC_000011.10:g.121307139A>G	ExAC,gnomAD
SC5D	O75845	p.Ser177Asn	rs1182798978	missense variant	-	NC_000011.10:g.121307142G>A	TOPMed,gnomAD
SC5D	O75845	p.Pro179Ser	rs757562608	missense variant	-	NC_000011.10:g.121307147C>T	ExAC,gnomAD
SC5D	O75845	p.Tyr180Ter	rs779204454	stop gained	-	NC_000011.10:g.121307152C>G	ExAC,gnomAD
SC5D	O75845	p.His181Arg	rs746016466	missense variant	-	NC_000011.10:g.121307154A>G	ExAC,gnomAD
SC5D	O75845	p.Ile182Val	rs144180704	missense variant	-	NC_000011.10:g.121307156A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile182Met	rs780238470	missense variant	-	NC_000011.10:g.121307158A>G	ExAC,gnomAD
SC5D	O75845	p.Tyr183His	rs747051432	missense variant	-	NC_000011.10:g.121307159T>C	ExAC,gnomAD
SC5D	O75845	p.Phe185Tyr	rs1239820473	missense variant	-	NC_000011.10:g.121307166T>A	TOPMed
SC5D	O75845	p.Phe185Cys	rs1239820473	missense variant	-	NC_000011.10:g.121307166T>G	TOPMed
SC5D	O75845	p.Pro188Gln	rs1465426900	missense variant	-	NC_000011.10:g.121307175C>A	TOPMed,gnomAD
SC5D	O75845	p.Pro188Leu	rs1465426900	missense variant	-	NC_000011.10:g.121307175C>T	TOPMed,gnomAD
SC5D	O75845	p.Leu189Ser	rs769900227	missense variant	-	NC_000011.10:g.121307178T>C	ExAC,gnomAD
SC5D	O75845	p.His190Tyr	rs1223198009	missense variant	-	NC_000011.10:g.121307180C>T	TOPMed
SC5D	O75845	p.Lys191Arg	rs1389492973	missense variant	-	NC_000011.10:g.121307184A>G	gnomAD
SC5D	O75845	p.Val192Met	rs773269151	missense variant	-	NC_000011.10:g.121307186G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Tyr194Phe	rs749173837	missense variant	-	NC_000011.10:g.121307193A>T	ExAC,gnomAD
SC5D	O75845	p.Ser196Thr	rs376481131	missense variant	-	NC_000011.10:g.121307199G>C	ESP,ExAC,gnomAD
SC5D	O75845	p.Tyr198His	rs1305350298	missense variant	-	NC_000011.10:g.121307204T>C	TOPMed
SC5D	O75845	p.Leu200Ser	rs144254550	missense variant	-	NC_000011.10:g.121307211T>C	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile203Ser	rs767126672	missense variant	-	NC_000011.10:g.121307220T>G	ExAC,gnomAD
SC5D	O75845	p.Thr205Ile	rs775033618	missense variant	-	NC_000011.10:g.121307226C>T	ExAC,gnomAD
SC5D	O75845	p.Ile206Val	rs1237177836	missense variant	-	NC_000011.10:g.121307228A>G	TOPMed,gnomAD
SC5D	O75845	p.Ile208Val	rs1454877350	missense variant	-	NC_000011.10:g.121307234A>G	TOPMed
SC5D	O75845	p.Asp210Glu	rs760167278	missense variant	-	NC_000011.10:g.121307242C>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Gly211Asp	RCV000007780	missense variant	Lathosterolosis	NC_000011.10:g.121307244G>A	ClinVar
SC5D	O75845	p.Gly211Ser	rs757168329	missense variant	-	NC_000011.10:g.121307243G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Gly211Arg	rs757168329	missense variant	-	NC_000011.10:g.121307243G>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Gly211Asp	rs104894296	missense variant	-	NC_000011.10:g.121307244G>A	-
SC5D	O75845	p.Gly211Asp	rs104894296	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121307244G>A	UniProt,dbSNP
SC5D	O75845	p.Gly211Asp	VAR_014424	missense variant	Lathosterolosis (LATHST)	NC_000011.10:g.121307244G>A	UniProt
SC5D	O75845	p.Arg214His	rs148689830	missense variant	-	NC_000011.10:g.121307253G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg214Cys	rs757650933	missense variant	-	NC_000011.10:g.121307252C>T	ExAC,gnomAD
SC5D	O75845	p.Val215Ile	rs1176651647	missense variant	-	NC_000011.10:g.121307255G>A	gnomAD
SC5D	O75845	p.Gln217Ter	rs370879876	stop gained	-	NC_000011.10:g.121307261C>T	ESP,TOPMed
SC5D	O75845	p.Gln217His	rs373065072	missense variant	-	NC_000011.10:g.121307263A>C	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ile218Val	rs546458364	missense variant	-	NC_000011.10:g.121307264A>G	1000Genomes,ExAC,gnomAD
SC5D	O75845	p.Gln220Glu	rs1262313527	missense variant	-	NC_000011.10:g.121307270C>G	TOPMed
SC5D	O75845	p.Pro221Ser	rs747141427	missense variant	-	NC_000011.10:g.121307273C>T	ExAC,gnomAD
SC5D	O75845	p.Ala227Pro	rs1301537043	missense variant	-	NC_000011.10:g.121307291G>C	gnomAD
SC5D	O75845	p.His229Arg	rs371081823	missense variant	-	NC_000011.10:g.121307298A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Thr230Ala	rs1261338202	missense variant	-	NC_000011.10:g.121307300A>G	TOPMed
SC5D	O75845	p.Asp231Asn	rs142234975	missense variant	-	NC_000011.10:g.121307303G>A	ESP,TOPMed
SC5D	O75845	p.His232Arg	rs151190785	missense variant	-	NC_000011.10:g.121307307A>G	ExAC,gnomAD
SC5D	O75845	p.Met234Ile	rs778614572	missense variant	-	NC_000011.10:g.121307314G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met234Ile	rs778614572	missense variant	-	NC_000011.10:g.121307314G>C	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Met234Val	rs770791777	missense variant	-	NC_000011.10:g.121307312A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Asp237Val	rs745655742	missense variant	-	NC_000011.10:g.121307322A>T	ExAC,gnomAD
SC5D	O75845	p.Asp237Glu	rs141293946	missense variant	-	NC_000011.10:g.121307323C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Tyr238Cys	rs1250786427	missense variant	-	NC_000011.10:g.121307325A>G	TOPMed,gnomAD
SC5D	O75845	p.Gln242Arg	rs1244071186	missense variant	-	NC_000011.10:g.121307337A>G	gnomAD
SC5D	O75845	p.Gly251Asp	rs768100179	missense variant	-	NC_000011.10:g.121307364G>A	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ser253Leu	rs762183407	missense variant	-	NC_000011.10:g.121307370C>T	ExAC,gnomAD
SC5D	O75845	p.Ser258Leu	rs765742077	missense variant	-	NC_000011.10:g.121307385C>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Glu261Gly	rs1324083070	missense variant	-	NC_000011.10:g.121307394A>G	TOPMed,gnomAD
SC5D	O75845	p.Lys263Thr	rs980102323	missense variant	-	NC_000011.10:g.121307400A>C	TOPMed
SC5D	O75845	p.Lys263Ter	rs1474952519	stop gained	-	NC_000011.10:g.121307399A>T	TOPMed
SC5D	O75845	p.Pro265Leu	rs745380178	missense variant	-	NC_000011.10:g.121307406C>T	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Tyr268Cys	rs960058373	missense variant	-	NC_000011.10:g.121307415A>G	TOPMed
SC5D	O75845	p.Val269Leu	rs1196786926	missense variant	-	NC_000011.10:g.121307417G>C	TOPMed,gnomAD
SC5D	O75845	p.Glu271Asp	rs367727061	missense variant	-	NC_000011.10:g.121307425G>C	ESP,TOPMed
SC5D	O75845	p.Met272Val	rs1320403076	missense variant	-	NC_000011.10:g.121307426A>G	TOPMed,gnomAD
SC5D	O75845	p.Met272Thr	rs766772523	missense variant	-	NC_000011.10:g.121307427T>C	ExAC,gnomAD
SC5D	O75845	p.Lys276Glu	rs751763860	missense variant	-	NC_000011.10:g.121307438A>G	ExAC,gnomAD
SC5D	O75845	p.Arg277Leu	rs114578771	missense variant	-	NC_000011.10:g.121307442G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg277Cys	rs118099079	missense variant	-	NC_000011.10:g.121307441C>T	1000Genomes,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Arg277His	rs114578771	missense variant	-	NC_000011.10:g.121307442G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Ser278Asn	rs757191362	missense variant	-	NC_000011.10:g.121307445G>A	ExAC,gnomAD
SC5D	O75845	p.Ser278Thr	rs757191362	missense variant	-	NC_000011.10:g.121307445G>C	ExAC,gnomAD
SC5D	O75845	p.Gly284Ser	rs745732638	missense variant	-	NC_000011.10:g.121307462G>A	ExAC,gnomAD
SC5D	O75845	p.Lys286Asn	rs1230188994	missense variant	-	NC_000011.10:g.121307470G>C	TOPMed
SC5D	O75845	p.Phe291Leu	rs771792307	missense variant	-	NC_000011.10:g.121307483T>C	ExAC,gnomAD
SC5D	O75845	p.Asn292Asp	rs771541681	missense variant	-	NC_000011.10:g.121307486A>G	TOPMed
SC5D	O75845	p.Asn292Ser	rs367608610	missense variant	-	NC_000011.10:g.121307487A>G	ESP,ExAC,TOPMed,gnomAD
SC5D	O75845	p.Glu294Gly	rs768181937	missense variant	-	NC_000011.10:g.121307493A>G	ExAC,gnomAD
SC5D	O75845	p.Glu294Asp	rs776041178	missense variant	-	NC_000011.10:g.121307494G>C	ExAC,gnomAD
SC5D	O75845	p.Phe295Leu	rs1049044204	missense variant	-	NC_000011.10:g.121307497T>A	TOPMed,gnomAD
SC5D	O75845	p.Thr296Ala	rs1299311512	missense variant	-	NC_000011.10:g.121307498A>G	gnomAD
SC5D	O75845	p.Thr296Ile	rs1422744827	missense variant	-	NC_000011.10:g.121307499C>T	gnomAD
SC5D	O75845	p.Lys297Glu	rs761361460	missense variant	-	NC_000011.10:g.121307501A>G	ExAC,TOPMed,gnomAD
SC5D	O75845	p.Thr298Ser	rs1169447482	missense variant	-	NC_000011.10:g.121307505C>G	TOPMed
TM7SF2	O76062	p.Ala2Val	rs746410125	missense variant	-	NC_000011.10:g.65112020C>T	ExAC,gnomAD
TM7SF2	O76062	p.Pro3Ser	rs1484023001	missense variant	-	NC_000011.10:g.65112022C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Pro3Leu	rs1198423120	missense variant	-	NC_000011.10:g.65112023C>T	gnomAD
TM7SF2	O76062	p.Thr4Ser	rs769826284	missense variant	-	NC_000011.10:g.65112026C>G	ExAC,gnomAD
TM7SF2	O76062	p.Thr4Ile	rs769826284	missense variant	-	NC_000011.10:g.65112026C>T	ExAC,gnomAD
TM7SF2	O76062	p.Gly6Asp	rs775514606	missense variant	-	NC_000011.10:g.65112032G>A	ExAC
TM7SF2	O76062	p.Gly6Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65112031G>T	NCI-TCGA
TM7SF2	O76062	p.Pro7Leu	rs768848767	missense variant	-	NC_000011.10:g.65112035C>T	ExAC,gnomAD
TM7SF2	O76062	p.Pro7Ser	rs763067450	missense variant	-	NC_000011.10:g.65112034C>T	ExAC,gnomAD
TM7SF2	O76062	p.Arg8Leu	rs1472555529	missense variant	-	NC_000011.10:g.65112038G>T	gnomAD
TM7SF2	O76062	p.Arg8Trp	rs1179865601	missense variant	-	NC_000011.10:g.65112037C>T	TOPMed
TM7SF2	O76062	p.Arg8GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.65112033_65112034CC>-	NCI-TCGA
TM7SF2	O76062	p.Pro10Ser	rs774697135	missense variant	-	NC_000011.10:g.65112043C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly14Arg	rs532572337	missense variant	-	NC_000011.10:g.65112055G>A	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly14Arg	rs532572337	missense variant	-	NC_000011.10:g.65112055G>C	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Pro16Ala	rs765316965	missense variant	-	NC_000011.10:g.65112061C>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Leu17Gln	rs752243591	missense variant	-	NC_000011.10:g.65112065T>A	ExAC,gnomAD
TM7SF2	O76062	p.Ala19Thr	rs1032053988	missense variant	-	NC_000011.10:g.65112517G>A	gnomAD
TM7SF2	O76062	p.Ala19Ser	rs1032053988	missense variant	-	NC_000011.10:g.65112517G>T	gnomAD
TM7SF2	O76062	p.Ala19Pro	rs1032053988	missense variant	-	NC_000011.10:g.65112517G>C	gnomAD
TM7SF2	O76062	p.Ala20Val	rs1047282998	missense variant	-	NC_000011.10:g.65112521C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Ala21Val	rs1324620567	missense variant	-	NC_000011.10:g.65112524C>T	gnomAD
TM7SF2	O76062	p.Leu23Pro	rs891400616	missense variant	-	NC_000011.10:g.65112530T>C	TOPMed,gnomAD
TM7SF2	O76062	p.Pro27Leu	rs1436680054	missense variant	-	NC_000011.10:g.65112542C>T	gnomAD
TM7SF2	O76062	p.Ala28Ser	rs552926486	missense variant	-	NC_000011.10:g.65112544G>T	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala28Val	rs573100022	missense variant	-	NC_000011.10:g.65112545C>T	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Thr29Ala	rs367955365	missense variant	-	NC_000011.10:g.65112547A>G	gnomAD
TM7SF2	O76062	p.Met30Val	rs1353982024	missense variant	-	NC_000011.10:g.65112550A>G	TOPMed
TM7SF2	O76062	p.Met30Ile	rs1320429480	missense variant	-	NC_000011.10:g.65112552G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Met30Thr	rs765262117	missense variant	-	NC_000011.10:g.65112551T>C	ExAC,gnomAD
TM7SF2	O76062	p.His32Pro	rs1233531752	missense variant	-	NC_000011.10:g.65112557A>C	TOPMed
TM7SF2	O76062	p.Ala36Gly	rs762494844	missense variant	-	NC_000011.10:g.65112569C>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala36Val	rs762494844	missense variant	-	NC_000011.10:g.65112569C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg38Leu	rs781766885	missense variant	-	NC_000011.10:g.65112575G>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg38Cys	rs982011193	missense variant	-	NC_000011.10:g.65112574C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Arg38Pro	rs781766885	missense variant	-	NC_000011.10:g.65112575G>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg38His	rs781766885	missense variant	-	NC_000011.10:g.65112575G>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ser39Trp	rs767122038	missense variant	-	NC_000011.10:g.65112578C>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly40Ser	rs750770040	missense variant	-	NC_000011.10:g.65112580G>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly40Arg	rs750770040	missense variant	-	NC_000011.10:g.65112580G>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly40Val	rs1164077624	missense variant	-	NC_000011.10:g.65112581G>T	gnomAD
TM7SF2	O76062	p.Gly40Cys	rs750770040	missense variant	-	NC_000011.10:g.65112580G>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Pro41Ser	rs756534085	missense variant	-	NC_000011.10:g.65112583C>T	ExAC,gnomAD
TM7SF2	O76062	p.Ala42Glu	rs1317958921	missense variant	-	NC_000011.10:g.65112587C>A	TOPMed,gnomAD
TM7SF2	O76062	p.Arg43His	rs1286298401	missense variant	-	NC_000011.10:g.65112590G>A	gnomAD
TM7SF2	O76062	p.Arg43Cys	rs371186990	missense variant	-	NC_000011.10:g.65112589C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Leu44Pro	rs1377483659	missense variant	-	NC_000011.10:g.65112593T>C	gnomAD
TM7SF2	O76062	p.Leu45Pro	rs1331857216	missense variant	-	NC_000011.10:g.65112596T>C	gnomAD
TM7SF2	O76062	p.Leu45Met	rs1289472111	missense variant	-	NC_000011.10:g.65112595C>A	gnomAD
TM7SF2	O76062	p.Gly46Ser	rs1267664876	missense variant	-	NC_000011.10:g.65112598G>A	gnomAD
TM7SF2	O76062	p.Gly46Val	rs1443204531	missense variant	-	NC_000011.10:g.65112599G>T	gnomAD
TM7SF2	O76062	p.Pro47Gln	rs1235973414	missense variant	-	NC_000011.10:g.65112602C>A	gnomAD
TM7SF2	O76062	p.Pro47Ser	rs1212576392	missense variant	-	NC_000011.10:g.65112601C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Pro47Thr	rs1212576392	missense variant	-	NC_000011.10:g.65112601C>A	TOPMed,gnomAD
TM7SF2	O76062	p.Pro48Ser	rs1471658328	missense variant	-	NC_000011.10:g.65112604C>T	gnomAD
TM7SF2	O76062	p.Ala49Ser	rs1412529879	missense variant	-	NC_000011.10:g.65112607G>T	TOPMed,gnomAD
TM7SF2	O76062	p.Ala49Thr	rs1412529879	missense variant	-	NC_000011.10:g.65112607G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Ser50Phe	rs773375844	missense variant	-	NC_000011.10:g.65112611C>T	ExAC,gnomAD
TM7SF2	O76062	p.Leu51Met	rs1414650276	missense variant	-	NC_000011.10:g.65112613C>A	gnomAD
TM7SF2	O76062	p.Pro52Ser	rs1357094628	missense variant	-	NC_000011.10:g.65112616C>T	gnomAD
TM7SF2	O76062	p.Gly53Ala	rs1352866861	missense variant	-	NC_000011.10:g.65112620G>C	TOPMed,gnomAD
TM7SF2	O76062	p.Gly53Arg	rs1309023964	missense variant	-	NC_000011.10:g.65112619G>A	gnomAD
TM7SF2	O76062	p.Gly53Val	rs1352866861	missense variant	-	NC_000011.10:g.65112620G>T	TOPMed,gnomAD
TM7SF2	O76062	p.Gly53Trp	rs1309023964	missense variant	-	NC_000011.10:g.65112619G>T	gnomAD
TM7SF2	O76062	p.Leu54Met	rs901336141	missense variant	-	NC_000011.10:g.65112622C>A	gnomAD
TM7SF2	O76062	p.Leu54Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65112623T>A	NCI-TCGA
TM7SF2	O76062	p.Glu55Lys	rs1345858699	missense variant	-	NC_000011.10:g.65112625G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Val56Met	rs775524238	missense variant	-	NC_000011.10:g.65112628G>A	ExAC
TM7SF2	O76062	p.Trp58Ter	rs1209878998	stop gained	-	NC_000011.10:g.65112635G>A	gnomAD
TM7SF2	O76062	p.Ser59Gly	rs1252342331	missense variant	-	NC_000011.10:g.65112637A>G	TOPMed,gnomAD
TM7SF2	O76062	p.Ser59Arg	rs1483982385	missense variant	-	NC_000011.10:g.65112639C>G	TOPMed,gnomAD
TM7SF2	O76062	p.Arg61Trp	rs1179972352	missense variant	-	NC_000011.10:g.65112643C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Arg61Gln	rs1363187058	missense variant	-	NC_000011.10:g.65112644G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Arg61Gly	rs1179972352	missense variant	-	NC_000011.10:g.65112643C>G	TOPMed,gnomAD
TM7SF2	O76062	p.Ala62Val	rs1173836529	missense variant	-	NC_000011.10:g.65112647C>T	gnomAD
TM7SF2	O76062	p.Leu65Gln	rs1157207889	missense variant	-	NC_000011.10:g.65112656T>A	TOPMed
TM7SF2	O76062	p.Leu67Val	rs1309009174	missense variant	-	NC_000011.10:g.65112661C>G	gnomAD
TM7SF2	O76062	p.Leu70Phe	rs1421050244	missense variant	-	NC_000011.10:g.65112670C>T	TOPMed
TM7SF2	O76062	p.Leu70Ile	rs1421050244	missense variant	-	NC_000011.10:g.65112670C>A	TOPMed
TM7SF2	O76062	p.Leu72Val	rs1408509054	missense variant	-	NC_000011.10:g.65112676C>G	TOPMed,gnomAD
TM7SF2	O76062	p.Ala74Val	rs1328711241	missense variant	-	NC_000011.10:g.65112683C>T	gnomAD
TM7SF2	O76062	p.Leu78Ile	rs1254793702	missense variant	-	NC_000011.10:g.65112694C>A	TOPMed
TM7SF2	O76062	p.Pro80Ala	rs1273220359	missense variant	-	NC_000011.10:g.65112700C>G	gnomAD
TM7SF2	O76062	p.Pro80Arg	rs1347410878	missense variant	-	NC_000011.10:g.65112701C>G	TOPMed,gnomAD
TM7SF2	O76062	p.Pro80Leu	rs1347410878	missense variant	-	NC_000011.10:g.65112701C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Ala81Gly	rs544392611	missense variant	-	NC_000011.10:g.65112704C>G	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala81Val	rs544392611	missense variant	-	NC_000011.10:g.65112704C>T	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg82His	rs563774622	missense variant	-	NC_000011.10:g.65112707G>A	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg82Leu	rs563774622	missense variant	-	NC_000011.10:g.65112707G>T	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Val84Met	rs1384255212	missense variant	-	NC_000011.10:g.65112811G>A	TOPMed
TM7SF2	O76062	p.Glu86Gly	rs1386721492	missense variant	-	NC_000011.10:g.65112818A>G	gnomAD
TM7SF2	O76062	p.Glu86Lys	rs1053859882	missense variant	-	NC_000011.10:g.65112817G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Gln88Arg	rs1381923795	missense variant	-	NC_000011.10:g.65112824A>G	gnomAD
TM7SF2	O76062	p.Leu90Ser	rs1294561804	missense variant	-	NC_000011.10:g.65112830T>C	gnomAD
TM7SF2	O76062	p.Leu90Trp	rs1294561804	missense variant	-	NC_000011.10:g.65112830T>G	gnomAD
TM7SF2	O76062	p.Asp92Glu	rs1340890806	missense variant	-	NC_000011.10:g.65112837C>G	gnomAD
TM7SF2	O76062	p.Lys93Met	rs984178225	missense variant	-	NC_000011.10:g.65112839A>T	TOPMed,gnomAD
TM7SF2	O76062	p.Lys93Glu	rs573822376	missense variant	-	NC_000011.10:g.65112838A>G	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Lys93Arg	rs984178225	missense variant	-	NC_000011.10:g.65112839A>G	TOPMed,gnomAD
TM7SF2	O76062	p.Arg95Leu	rs1208803014	missense variant	-	NC_000011.10:g.65112845G>T	TOPMed,gnomAD
TM7SF2	O76062	p.Arg95His	rs1208803014	missense variant	-	NC_000011.10:g.65112845G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Arg97Cys	rs1429064818	missense variant	-	NC_000011.10:g.65112850C>T	TOPMed
TM7SF2	O76062	p.Tyr98His	rs1269532861	missense variant	-	NC_000011.10:g.65112853T>C	TOPMed,gnomAD
TM7SF2	O76062	p.Gly102Cys	rs1277537371	missense variant	-	NC_000011.10:g.65112865G>T	gnomAD
TM7SF2	O76062	p.Gln104His	rs1280023643	missense variant	-	NC_000011.10:g.65113227G>T	gnomAD
TM7SF2	O76062	p.Gln104Ter	rs1055088924	stop gained	-	NC_000011.10:g.65113225C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Gln104Pro	rs753158046	missense variant	-	NC_000011.10:g.65113226A>C	ExAC,gnomAD
TM7SF2	O76062	p.Gln104Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65113225C>G	NCI-TCGA
TM7SF2	O76062	p.Gln104Lys	rs1055088924	missense variant	-	NC_000011.10:g.65113225C>A	TOPMed,gnomAD
TM7SF2	O76062	p.Val107Leu	rs758455043	missense variant	-	NC_000011.10:g.65113234G>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala110Thr	rs751733076	missense variant	-	NC_000011.10:g.65113243G>A	ExAC,gnomAD
TM7SF2	O76062	p.Leu112Phe	rs757533597	missense variant	-	NC_000011.10:g.65113251G>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Val113Gly	rs368811097	missense variant	-	NC_000011.10:g.65113253T>G	ExAC,gnomAD
TM7SF2	O76062	p.Val113Glu	rs368811097	missense variant	-	NC_000011.10:g.65113253T>A	ExAC,gnomAD
TM7SF2	O76062	p.Gly114Ala	rs749102887	missense variant	-	NC_000011.10:g.65113256G>C	ExAC,gnomAD
TM7SF2	O76062	p.Gly114Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65113256G>T	NCI-TCGA
TM7SF2	O76062	p.Gly116Arg	rs906315729	missense variant	-	NC_000011.10:g.65113261G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Gly116Glu	rs377641143	missense variant	-	NC_000011.10:g.65113262G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Met117Ile	rs371004792	missense variant	-	NC_000011.10:g.65113266G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala119Val	rs11539360	missense variant	-	NC_000011.10:g.65113271C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Leu121Pro	rs1293584325	missense variant	-	NC_000011.10:g.65113277T>C	gnomAD
TM7SF2	O76062	p.Pro122Leu	rs1027102131	missense variant	-	NC_000011.10:g.65113280C>T	TOPMed
TM7SF2	O76062	p.Leu123Pro	rs1413508745	missense variant	-	NC_000011.10:g.65113283T>C	gnomAD
TM7SF2	O76062	p.Gly124Arg	rs1194185346	missense variant	-	NC_000011.10:g.65113285G>C	TOPMed
TM7SF2	O76062	p.Gly124Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65113286G>T	NCI-TCGA
TM7SF2	O76062	p.Gly124Glu	rs368139158	missense variant	-	NC_000011.10:g.65113286G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala125Thr	rs770555777	missense variant	-	NC_000011.10:g.65113288G>A	ExAC,gnomAD
TM7SF2	O76062	p.Ala125Val	rs776272038	missense variant	-	NC_000011.10:g.65113289C>T	ExAC,gnomAD
TM7SF2	O76062	p.Pro127Gln	rs199945827	missense variant	-	NC_000011.10:g.65113295C>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Pro127Leu	rs199945827	missense variant	-	NC_000011.10:g.65113295C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Met129Ile	rs1271392101	missense variant	-	NC_000011.10:g.65113302G>A	gnomAD
TM7SF2	O76062	p.Leu130Phe	rs558383899	missense variant	-	NC_000011.10:g.65113303C>T	TOPMed
TM7SF2	O76062	p.Leu131Gln	rs1341193576	missense variant	-	NC_000011.10:g.65113307T>A	TOPMed
TM7SF2	O76062	p.Ala134Val	rs751678155	missense variant	-	NC_000011.10:g.65113316C>T	ExAC,gnomAD
TM7SF2	O76062	p.Ala137Thr	rs373651115	missense variant	-	NC_000011.10:g.65113324G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Thr138Ile	rs1451636203	missense variant	-	NC_000011.10:g.65113328C>T	gnomAD
TM7SF2	O76062	p.Ala141Thr	COSM4035333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65113336G>A	NCI-TCGA Cosmic
TM7SF2	O76062	p.Ala141Val	rs1427821990	missense variant	-	NC_000011.10:g.65113337C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Ile143Val	rs1314197376	missense variant	-	NC_000011.10:g.65113342A>G	TOPMed
TM7SF2	O76062	p.Phe144Ser	rs758307738	missense variant	-	NC_000011.10:g.65113346T>C	ExAC,gnomAD
TM7SF2	O76062	p.Ser145Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65113348A>G	NCI-TCGA
TM7SF2	O76062	p.Ser145Arg	rs1459365131	missense variant	-	NC_000011.10:g.65113350C>A	gnomAD
TM7SF2	O76062	p.Met150Val	rs555112713	missense variant	-	NC_000011.10:g.65113363A>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Met150Arg	rs746451414	missense variant	-	NC_000011.10:g.65113364T>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala152Val	rs770443444	missense variant	-	NC_000011.10:g.65113370C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala152Gly	rs770443444	missense variant	-	NC_000011.10:g.65113370C>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gln153Lys	rs112462138	missense variant	-	NC_000011.10:g.65113372C>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala155Thr	rs769529852	missense variant	-	NC_000011.10:g.65113378G>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Val157Leu	rs367791949	missense variant	-	NC_000011.10:g.65113384G>C	ESP,TOPMed,gnomAD
TM7SF2	O76062	p.Val157Gly	rs775699671	missense variant	-	NC_000011.10:g.65113385T>G	ExAC,gnomAD
TM7SF2	O76062	p.Ser158Ala	rs763435259	missense variant	-	NC_000011.10:g.65113387T>G	ExAC,gnomAD
TM7SF2	O76062	p.Ala159Thr	rs1283986292	missense variant	-	NC_000011.10:g.65113390G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Ala161Pro	COSM690055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65113396G>C	NCI-TCGA Cosmic
TM7SF2	O76062	p.Pro162Leu	rs775000437	missense variant	-	NC_000011.10:g.65113400C>T	ExAC,gnomAD
TM7SF2	O76062	p.Pro162Ser	COSM1127688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65113399C>T	NCI-TCGA Cosmic
TM7SF2	O76062	p.Gly164Glu	COSM3451700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65113406G>A	NCI-TCGA Cosmic
TM7SF2	O76062	p.Asn165Ile	rs548244298	missense variant	-	NC_000011.10:g.65113409A>T	1000Genomes
TM7SF2	O76062	p.Asn165ThrPheSerTerUnkUnk	COSM1355885	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.65113402G>-	NCI-TCGA Cosmic
TM7SF2	O76062	p.Ser166Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65113411T>G	NCI-TCGA
TM7SF2	O76062	p.Gly167Asp	rs749601174	missense variant	-	NC_000011.10:g.65113491G>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Pro169Ser	rs1406784876	missense variant	-	NC_000011.10:g.65113496C>T	gnomAD
TM7SF2	O76062	p.Pro169Leu	COSM3451701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65113497C>T	NCI-TCGA Cosmic
TM7SF2	O76062	p.Pro169Arg	rs1414739563	missense variant	-	NC_000011.10:g.65113497C>G	gnomAD
TM7SF2	O76062	p.Ile170Phe	rs1358110223	missense variant	-	NC_000011.10:g.65113499A>T	gnomAD
TM7SF2	O76062	p.Tyr171Asp	rs773142728	missense variant	-	NC_000011.10:g.65113502T>G	ExAC,gnomAD
TM7SF2	O76062	p.Tyr171Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.65113504C>G	NCI-TCGA
TM7SF2	O76062	p.Asp172Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65113505G>A	NCI-TCGA
TM7SF2	O76062	p.Leu175Pro	rs1309118164	missense variant	-	NC_000011.10:g.65113515T>C	gnomAD
TM7SF2	O76062	p.Gly176Arg	rs1338066263	missense variant	-	NC_000011.10:g.65113517G>C	gnomAD
TM7SF2	O76062	p.Arg177Gln	rs760865565	missense variant	-	NC_000011.10:g.65113521G>A	ExAC,gnomAD
TM7SF2	O76062	p.Glu178Val	rs1274757492	missense variant	-	NC_000011.10:g.65113524A>T	TOPMed
TM7SF2	O76062	p.Leu179His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65113527T>A	NCI-TCGA
TM7SF2	O76062	p.Pro181His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65113533C>A	NCI-TCGA
TM7SF2	O76062	p.Arg182His	rs368193705	missense variant	-	NC_000011.10:g.65113536G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg182Gly	rs1345966475	missense variant	-	NC_000011.10:g.65113535C>G	gnomAD
TM7SF2	O76062	p.Ile183Val	rs762689150	missense variant	-	NC_000011.10:g.65113538A>G	ExAC,gnomAD
TM7SF2	O76062	p.Cys184Tyr	rs1315919303	missense variant	-	NC_000011.10:g.65113542G>A	TOPMed
TM7SF2	O76062	p.Phe185Leu	rs1345406377	missense variant	-	NC_000011.10:g.65113546C>A	gnomAD
TM7SF2	O76062	p.Phe185GlyValCysArgHisProHisArg	NCI-TCGA novel	insertion	-	NC_000011.10:g.65113545_65113546insTGGCGTTTGTCGCCACCCTCACCG	NCI-TCGA
TM7SF2	O76062	p.Phe186Leu	rs763907881	missense variant	-	NC_000011.10:g.65113549C>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Phe188Leu	rs371986771	missense variant	-	NC_000011.10:g.65113555C>G	ESP,TOPMed
TM7SF2	O76062	p.Lys189Glu	rs751397747	missense variant	-	NC_000011.10:g.65113556A>G	ExAC,gnomAD
TM7SF2	O76062	p.Lys189Thr	rs757168980	missense variant	-	NC_000011.10:g.65113557A>C	ExAC,gnomAD
TM7SF2	O76062	p.Phe191Leu	rs1179028204	missense variant	-	NC_000011.10:g.65113562T>C	gnomAD
TM7SF2	O76062	p.Phe191Leu	rs1353524397	missense variant	-	NC_000011.10:g.65113564C>A	TOPMed
TM7SF2	O76062	p.Cys192Ser	rs781253513	missense variant	-	NC_000011.10:g.65113565T>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Cys192Arg	rs781253513	missense variant	-	NC_000011.10:g.65113565T>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg195Ter	rs1026908692	stop gained	-	NC_000011.10:g.65113574C>T	TOPMed
TM7SF2	O76062	p.Gly197Ser	rs749899970	missense variant	-	NC_000011.10:g.65113580G>A	ExAC,gnomAD
TM7SF2	O76062	p.Leu198Ile	rs755657150	missense variant	-	NC_000011.10:g.65113583C>A	ExAC,gnomAD
TM7SF2	O76062	p.Leu198Phe	rs755657150	missense variant	-	NC_000011.10:g.65113583C>T	ExAC,gnomAD
TM7SF2	O76062	p.Leu198Pro	rs1392904159	missense variant	-	NC_000011.10:g.65113584T>C	gnomAD
TM7SF2	O76062	p.Ile199Phe	rs779512414	missense variant	-	NC_000011.10:g.65113586A>T	ExAC,gnomAD
TM7SF2	O76062	p.Gly200Asp	rs1408778642	missense variant	-	NC_000011.10:g.65113590G>A	gnomAD
TM7SF2	O76062	p.Gly200Ser	rs377167308	missense variant	-	NC_000011.10:g.65113589G>A	ExAC,gnomAD
TM7SF2	O76062	p.Gly200Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65113590G>T	NCI-TCGA
TM7SF2	O76062	p.Gly200Arg	COSM76743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65113589G>C	NCI-TCGA Cosmic
TM7SF2	O76062	p.Leu206Gln	rs1191421411	missense variant	-	NC_000011.10:g.65114726T>A	TOPMed
TM7SF2	O76062	p.Leu209Ser	rs778766450	missense variant	-	NC_000011.10:g.65114735T>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Met210Leu	rs748516890	missense variant	-	NC_000011.10:g.65114737A>C	ExAC,gnomAD
TM7SF2	O76062	p.Met210Thr	rs1192923440	missense variant	-	NC_000011.10:g.65114738T>C	gnomAD
TM7SF2	O76062	p.Met210Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65114739G>A	NCI-TCGA
TM7SF2	O76062	p.Met210Ile	COSM4817748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65114739G>C	NCI-TCGA Cosmic
TM7SF2	O76062	p.Glu212Lys	rs71468691	missense variant	-	NC_000011.10:g.65114743G>A	gnomAD
TM7SF2	O76062	p.Ala213Thr	rs1476505341	missense variant	-	NC_000011.10:g.65114746G>A	gnomAD
TM7SF2	O76062	p.Glu214Lys	rs1239886182	missense variant	-	NC_000011.10:g.65114749G>A	TOPMed
TM7SF2	O76062	p.Arg216Ter	rs772488065	stop gained	-	NC_000011.10:g.65114755C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg216Gln	rs183249527	missense variant	-	NC_000011.10:g.65114756G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly217Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65114759G>A	NCI-TCGA
TM7SF2	O76062	p.Pro219Leu	rs1287359290	missense variant	-	NC_000011.10:g.65114765C>T	TOPMed
TM7SF2	O76062	p.Ser220Leu	rs201108253	missense variant	-	NC_000011.10:g.65114768C>T	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Met223Thr	rs776671000	missense variant	-	NC_000011.10:g.65114777T>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Met223Leu	rs1383094677	missense variant	-	NC_000011.10:g.65114776A>T	gnomAD
TM7SF2	O76062	p.Trp224Ter	rs374920822	stop gained	-	NC_000011.10:g.65114781G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Trp224Ser	rs759674435	missense variant	-	NC_000011.10:g.65114780G>C	ExAC,gnomAD
TM7SF2	O76062	p.Val226Gly	rs775696515	missense variant	-	NC_000011.10:g.65114786T>G	ExAC,gnomAD
TM7SF2	O76062	p.Val226Ala	rs775696515	missense variant	-	NC_000011.10:g.65114786T>C	ExAC,gnomAD
TM7SF2	O76062	p.Asn227Ser	rs761460155	missense variant	-	NC_000011.10:g.65114789A>G	ExAC,gnomAD
TM7SF2	O76062	p.Leu231Ser	rs1333456934	missense variant	-	NC_000011.10:g.65114801T>C	gnomAD
TM7SF2	O76062	p.Leu232Phe	COSM1355886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65114803C>T	NCI-TCGA Cosmic
TM7SF2	O76062	p.Tyr233His	rs867555087	missense variant	-	NC_000011.10:g.65114806T>C	gnomAD
TM7SF2	O76062	p.Tyr233Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65114806T>A	NCI-TCGA
TM7SF2	O76062	p.Asp236Val	rs1262050128	missense variant	-	NC_000011.10:g.65114816A>T	gnomAD
TM7SF2	O76062	p.Ala237Asp	rs1204902286	missense variant	-	NC_000011.10:g.65114819C>A	gnomAD
TM7SF2	O76062	p.Ala237Thr	rs1348179563	missense variant	-	NC_000011.10:g.65114818G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Leu238Phe	rs1258714589	missense variant	-	NC_000011.10:g.65114821C>T	gnomAD
TM7SF2	O76062	p.Leu238Val	rs1258714589	missense variant	-	NC_000011.10:g.65114821C>G	gnomAD
TM7SF2	O76062	p.His240Tyr	rs772980923	missense variant	-	NC_000011.10:g.65114827C>T	ExAC,gnomAD
TM7SF2	O76062	p.Val244Ile	rs148878643	missense variant	-	NC_000011.10:g.65114919G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Thr247Ile	rs766413625	missense variant	-	NC_000011.10:g.65114929C>T	ExAC,gnomAD
TM7SF2	O76062	p.Thr247Ala	rs1292710984	missense variant	-	NC_000011.10:g.65114928A>G	TOPMed
TM7SF2	O76062	p.Met248Thr	rs776714853	missense variant	-	NC_000011.10:g.65114932T>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Asp249Tyr	rs200355387	missense variant	-	NC_000011.10:g.65114934G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.His252Tyr	rs758049533	missense variant	-	NC_000011.10:g.65114943C>T	ExAC
TM7SF2	O76062	p.Asp253GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.65114945_65114964TGACGGGTTTGGCTTCATGC>-	NCI-TCGA
TM7SF2	O76062	p.Asp253Glu	rs763712793	missense variant	-	NC_000011.10:g.65114948C>A	ExAC,gnomAD
TM7SF2	O76062	p.Gly254Trp	rs143577587	missense variant	-	NC_000011.10:g.65114949G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly254Arg	rs143577587	missense variant	-	NC_000011.10:g.65114949G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Phe255Leu	rs902293592	missense variant	-	NC_000011.10:g.65114952T>C	TOPMed,gnomAD
TM7SF2	O76062	p.Ala260Val	rs551357064	missense variant	-	NC_000011.10:g.65114968C>T	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Met264Ile	rs895322845	missense variant	-	NC_000011.10:g.65114981G>A	TOPMed,gnomAD
TM7SF2	O76062	p.Trp266Gly	rs749373964	missense variant	-	NC_000011.10:g.65114985T>G	ExAC,TOPMed
TM7SF2	O76062	p.Trp266Ter	rs768906444	stop gained	-	NC_000011.10:g.65114987G>A	ExAC,gnomAD
TM7SF2	O76062	p.Val267Met	rs774501532	missense variant	-	NC_000011.10:g.65114988G>A	ExAC,gnomAD
TM7SF2	O76062	p.Tyr271Cys	rs375674215	missense variant	-	NC_000011.10:g.65115001A>G	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Tyr271Ter	rs1452881698	stop gained	-	NC_000011.10:g.65115002C>G	gnomAD
TM7SF2	O76062	p.Ser272Thr	rs1013053449	missense variant	-	NC_000011.10:g.65115004G>C	TOPMed,gnomAD
TM7SF2	O76062	p.Leu273Val	rs770862173	missense variant	-	NC_000011.10:g.65115006C>G	ExAC,gnomAD
TM7SF2	O76062	p.Ala275Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65115013C>T	NCI-TCGA
TM7SF2	O76062	p.Gln276His	rs776660302	missense variant	-	NC_000011.10:g.65115017G>T	ExAC,gnomAD
TM7SF2	O76062	p.Gln276Pro	rs1428922520	missense variant	-	NC_000011.10:g.65115016A>C	gnomAD
TM7SF2	O76062	p.Pro282Leu	rs187240326	missense variant	-	NC_000011.10:g.65115034C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Pro284His	rs762439033	missense variant	-	NC_000011.10:g.65115040C>A	ExAC
TM7SF2	O76062	p.Pro284Thr	rs775054516	missense variant	-	NC_000011.10:g.65115039C>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly286Arg	rs763739423	missense variant	-	NC_000011.10:g.65115045G>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly286Glu	rs751188189	missense variant	-	NC_000011.10:g.65115046G>A	ExAC,gnomAD
TM7SF2	O76062	p.Met289Thr	rs762121544	missense variant	-	NC_000011.10:g.65115055T>C	ExAC,gnomAD
TM7SF2	O76062	p.Met289Val	rs1233977520	missense variant	-	NC_000011.10:g.65115054A>G	TOPMed,gnomAD
TM7SF2	O76062	p.Ser291Phe	COSM6069890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65115061C>T	NCI-TCGA Cosmic
TM7SF2	O76062	p.Ile293Thr	rs1213249801	missense variant	-	NC_000011.10:g.65115067T>C	gnomAD
TM7SF2	O76062	p.Leu295His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65115073T>A	NCI-TCGA
TM7SF2	O76062	p.Ile296Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65115075A>G	NCI-TCGA
TM7SF2	O76062	p.Asn297Ser	rs368684139	missense variant	-	NC_000011.10:g.65115079A>G	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala298Asp	rs768077110	missense variant	-	NC_000011.10:g.65115314C>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala298Gly	rs768077110	missense variant	-	NC_000011.10:g.65115314C>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Thr299Ile	rs1129195	missense variant	-	NC_000011.10:g.65115317C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Thr299Ile	rs1129195	missense variant	-	NC_000011.10:g.65115317C>T	UniProt,dbSNP
TM7SF2	O76062	p.Thr299Ile	VAR_012716	missense variant	-	NC_000011.10:g.65115317C>T	UniProt
TM7SF2	O76062	p.Tyr301Ter	rs761419824	stop gained	-	NC_000011.10:g.65115324C>A	ExAC,gnomAD
TM7SF2	O76062	p.Tyr302Cys	rs767202148	missense variant	-	NC_000011.10:g.65115326A>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Tyr302Ser	rs767202148	missense variant	-	NC_000011.10:g.65115326A>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ile303Val	rs1354129124	missense variant	-	NC_000011.10:g.65115328A>G	gnomAD
TM7SF2	O76062	p.Phe304Leu	rs948814150	missense variant	-	NC_000011.10:g.65115333C>A	gnomAD
TM7SF2	O76062	p.Arg305Cys	rs377189788	missense variant	-	NC_000011.10:g.65115334C>T	ESP,TOPMed,gnomAD
TM7SF2	O76062	p.Arg305His	rs369865834	missense variant	-	NC_000011.10:g.65115335G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg305Leu	COSM6134061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65115335G>T	NCI-TCGA Cosmic
TM7SF2	O76062	p.Arg305Gly	rs377189788	missense variant	-	NC_000011.10:g.65115334C>G	ESP,TOPMed,gnomAD
TM7SF2	O76062	p.Gly306Glu	rs190564223	missense variant	-	NC_000011.10:g.65115338G>A	1000Genomes,ExAC,gnomAD
TM7SF2	O76062	p.Ala307Val	rs1014972652	missense variant	-	NC_000011.10:g.65115341C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Ala307Ser	rs573857198	missense variant	-	NC_000011.10:g.65115340G>T	TOPMed,gnomAD
TM7SF2	O76062	p.Asn308Lys	rs752875093	missense variant	-	NC_000011.10:g.65115345T>A	ExAC,gnomAD
TM7SF2	O76062	p.Lys311Glu	rs758681533	missense variant	-	NC_000011.10:g.65115352A>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Asn312His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65115355A>C	NCI-TCGA
TM7SF2	O76062	p.Thr313Ile	rs376738474	missense variant	-	NC_000011.10:g.65115359C>T	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Thr313Ser	rs778210498	missense variant	-	NC_000011.10:g.65115358A>T	ExAC,gnomAD
TM7SF2	O76062	p.Phe314SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.65115360T>-	NCI-TCGA
TM7SF2	O76062	p.Arg315Pro	rs201258810	missense variant	-	NC_000011.10:g.65115365G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg315Ter	rs769493365	stop gained	-	NC_000011.10:g.65115364C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg315Gln	rs201258810	missense variant	-	NC_000011.10:g.65115365G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Asn317Lys	rs773709021	missense variant	-	NC_000011.10:g.65115372T>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Pro318Leu	rs546134704	missense variant	-	NC_000011.10:g.65115374C>T	gnomAD
TM7SF2	O76062	p.Pro318Ser	rs1263894495	missense variant	-	NC_000011.10:g.65115373C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Pro321Ser	rs747710223	missense variant	-	NC_000011.10:g.65115382C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg322Ile	rs771706431	missense variant	-	NC_000011.10:g.65115386G>T	ExAC,gnomAD
TM7SF2	O76062	p.Val323Leu	rs772852483	missense variant	-	NC_000011.10:g.65115388G>C	ExAC,gnomAD
TM7SF2	O76062	p.Val323Gly	rs372729147	missense variant	-	NC_000011.10:g.65115389T>G	ESP
TM7SF2	O76062	p.Ala324Thr	rs760970320	missense variant	-	NC_000011.10:g.65115391G>A	ExAC,gnomAD
TM7SF2	O76062	p.Ala324Ser	rs760970320	missense variant	-	NC_000011.10:g.65115391G>T	ExAC,gnomAD
TM7SF2	O76062	p.Glu327Ala	rs1282929940	missense variant	-	NC_000011.10:g.65115482A>C	TOPMed
TM7SF2	O76062	p.Glu327Lys	rs371080784	missense variant	-	NC_000011.10:g.65115481G>A	ESP,TOPMed,gnomAD
TM7SF2	O76062	p.Glu327Gln	rs371080784	missense variant	-	NC_000011.10:g.65115481G>C	ESP,TOPMed,gnomAD
TM7SF2	O76062	p.Ile329Leu	rs1468623549	missense variant	-	NC_000011.10:g.65115487A>C	gnomAD
TM7SF2	O76062	p.Thr331Lys	rs770656879	missense variant	-	NC_000011.10:g.65115494C>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Thr331Ile	rs770656879	missense variant	-	NC_000011.10:g.65115494C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Thr331Ala	rs375652399	missense variant	-	NC_000011.10:g.65115493A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ala332Val	COSM930328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65115497C>T	NCI-TCGA Cosmic
TM7SF2	O76062	p.Thr333Ala	rs368243602	missense variant	-	NC_000011.10:g.65115499A>G	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Thr333Lys	rs760012550	missense variant	-	NC_000011.10:g.65115500C>A	ExAC,gnomAD
TM7SF2	O76062	p.Gly334Arg	rs1332211373	missense variant	-	NC_000011.10:g.65115502G>C	TOPMed
TM7SF2	O76062	p.Gly334Arg	rs1332211373	missense variant	-	NC_000011.10:g.65115502G>A	TOPMed
TM7SF2	O76062	p.Arg335Gln	rs551444950	missense variant	-	NC_000011.10:g.65115506G>A	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg335Trp	rs553025048	missense variant	-	NC_000011.10:g.65115505C>T	ExAC,gnomAD
TM7SF2	O76062	p.Leu338Met	rs1463110740	missense variant	-	NC_000011.10:g.65115514C>A	gnomAD
TM7SF2	O76062	p.Val339Met	rs1162973077	missense variant	-	NC_000011.10:g.65115517G>A	gnomAD
TM7SF2	O76062	p.Val339Ala	rs751733062	missense variant	-	NC_000011.10:g.65115518T>C	ExAC
TM7SF2	O76062	p.Val339Leu	rs1162973077	missense variant	-	NC_000011.10:g.65115517G>C	gnomAD
TM7SF2	O76062	p.Trp342Cys	rs201690600	missense variant	-	NC_000011.10:g.65115528G>C	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Trp343Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.65115530G>A	NCI-TCGA
TM7SF2	O76062	p.Gly344Ala	rs1433597004	missense variant	-	NC_000011.10:g.65115533G>C	gnomAD
TM7SF2	O76062	p.Gly344Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65115532G>A	NCI-TCGA
TM7SF2	O76062	p.Gly344Arg	rs753567126	missense variant	-	NC_000011.10:g.65115532G>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Met345Thr	rs778761215	missense variant	-	NC_000011.10:g.65115536T>C	ExAC,gnomAD
TM7SF2	O76062	p.Arg347Cys	rs748104845	missense variant	-	NC_000011.10:g.65115541C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg347His	rs375149084	missense variant	-	NC_000011.10:g.65115542G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Tyr351His	rs1212177148	missense variant	-	NC_000011.10:g.65115553T>C	TOPMed
TM7SF2	O76062	p.Leu352Pro	rs547388685	missense variant	-	NC_000011.10:g.65115557T>C	1000Genomes,ExAC,gnomAD
TM7SF2	O76062	p.Leu352Arg	rs547388685	missense variant	-	NC_000011.10:g.65115557T>G	1000Genomes,ExAC,gnomAD
TM7SF2	O76062	p.Ile356Met	rs780903663	missense variant	-	NC_000011.10:g.65115570C>G	ExAC
TM7SF2	O76062	p.Ile356Leu	rs1309042768	missense variant	-	NC_000011.10:g.65115568A>C	TOPMed
TM7SF2	O76062	p.Met357Val	COSM4035334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65115571A>G	NCI-TCGA Cosmic
TM7SF2	O76062	p.Ala358Val	rs1487527822	missense variant	-	NC_000011.10:g.65115575C>T	gnomAD
TM7SF2	O76062	p.Leu359Pro	rs1193528015	missense variant	-	NC_000011.10:g.65115578T>C	gnomAD
TM7SF2	O76062	p.Ala360Thr	rs1258837917	missense variant	-	NC_000011.10:g.65115580G>A	gnomAD
TM7SF2	O76062	p.Ser362Phe	rs1050479929	missense variant	-	NC_000011.10:g.65115587C>T	TOPMed
TM7SF2	O76062	p.Leu363Phe	rs1476195842	missense variant	-	NC_000011.10:g.65115591G>C	gnomAD
TM7SF2	O76062	p.Pro364Ser	rs1238427509	missense variant	-	NC_000011.10:g.65115592C>T	TOPMed
TM7SF2	O76062	p.Pro364Leu	rs1185975858	missense variant	-	NC_000011.10:g.65115593C>T	gnomAD
TM7SF2	O76062	p.Gly366Glu	rs1012043850	missense variant	-	NC_000011.10:g.65115893G>A	TOPMed
TM7SF2	O76062	p.Gly366Arg	rs376487559	missense variant	-	NC_000011.10:g.65115598G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Val367Met	rs375239318	missense variant	-	NC_000011.10:g.65115895G>A	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Val367Ala	rs1332867882	missense variant	-	NC_000011.10:g.65115896T>C	TOPMed
TM7SF2	O76062	p.His369Tyr	rs1348733481	missense variant	-	NC_000011.10:g.65115901C>T	TOPMed
TM7SF2	O76062	p.His369Gln	rs544507657	missense variant	-	NC_000011.10:g.65115903C>G	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Pro372Ser	rs755351709	missense variant	-	NC_000011.10:g.65115910C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Tyr373Cys	rs1195700444	missense variant	-	NC_000011.10:g.65115914A>G	gnomAD
TM7SF2	O76062	p.Leu376Phe	rs369161377	missense variant	-	NC_000011.10:g.65115922C>T	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Leu377Phe	rs1477176662	missense variant	-	NC_000011.10:g.65115925C>T	TOPMed,gnomAD
TM7SF2	O76062	p.Phe379Leu	rs1403283215	missense variant	-	NC_000011.10:g.65115931T>C	TOPMed,gnomAD
TM7SF2	O76062	p.Thr380Ala	rs1164487879	missense variant	-	NC_000011.10:g.65115934A>G	gnomAD
TM7SF2	O76062	p.Ala381Thr	COSM5510517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65115937G>A	NCI-TCGA Cosmic
TM7SF2	O76062	p.Ala381Val	rs778148061	missense variant	-	NC_000011.10:g.65115938C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Leu383Pro	rs747033645	missense variant	-	NC_000011.10:g.65115944T>C	ExAC,gnomAD
TM7SF2	O76062	p.Val384Met	rs771022046	missense variant	-	NC_000011.10:g.65115946G>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.His385Tyr	rs776795728	missense variant	-	NC_000011.10:g.65115949C>T	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.His385Gln	rs1375513345	missense variant	-	NC_000011.10:g.65115951C>A	gnomAD
TM7SF2	O76062	p.Arg386His	rs769961279	missense variant	-	NC_000011.10:g.65115953G>A	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg386Cys	rs746060735	missense variant	-	NC_000011.10:g.65115952C>T	ExAC
TM7SF2	O76062	p.Arg386Pro	rs769961279	missense variant	-	NC_000011.10:g.65115953G>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Arg389Gln	rs574235274	missense variant	-	NC_000011.10:g.65115962G>A	1000Genomes,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Asp390Gly	rs200277720	missense variant	-	NC_000011.10:g.65115965A>G	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Glu391Gln	COSM415453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65115967G>C	NCI-TCGA Cosmic
TM7SF2	O76062	p.Arg392Trp	rs760211079	missense variant	-	NC_000011.10:g.65115970C>T	ExAC,gnomAD
TM7SF2	O76062	p.Gln393Glu	rs1244010289	missense variant	-	NC_000011.10:g.65115973C>G	gnomAD
TM7SF2	O76062	p.Cys394Ser	rs753436919	missense variant	-	NC_000011.10:g.65115977G>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Lys397Arg	rs764855560	missense variant	-	NC_000011.10:g.65115986A>G	ExAC,gnomAD
TM7SF2	O76062	p.Lys397Ter	rs1263401967	stop gained	-	NC_000011.10:g.65115985A>T	gnomAD
TM7SF2	O76062	p.Tyr398Ter	rs183160005	stop gained	-	NC_000011.10:g.65115990C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Gly399Ser	rs778294179	missense variant	-	NC_000011.10:g.65115991G>A	ExAC,gnomAD
TM7SF2	O76062	p.Gly399Ala	rs1360415182	missense variant	-	NC_000011.10:g.65115992G>C	gnomAD
TM7SF2	O76062	p.Ala401Val	rs1357462189	missense variant	-	NC_000011.10:g.65115998C>T	gnomAD
TM7SF2	O76062	p.Ala401Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.65115997G>A	NCI-TCGA
TM7SF2	O76062	p.Trp402Ter	rs757798946	stop gained	-	NC_000011.10:g.65116001G>A	ExAC,gnomAD
TM7SF2	O76062	p.Gln403Ter	rs781223700	stop gained	-	NC_000011.10:g.65116003C>T	ExAC
TM7SF2	O76062	p.Gln403Arg	COSM3986347	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65116004A>G	NCI-TCGA Cosmic
TM7SF2	O76062	p.Tyr405His	rs373299244	missense variant	-	NC_000011.10:g.65116009T>C	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Cys406Ter	rs1242045787	stop gained	-	NC_000011.10:g.65116014C>A	TOPMed,gnomAD
TM7SF2	O76062	p.Arg407Gln	rs780139717	missense variant	-	NC_000011.10:g.65116016G>A	ExAC,gnomAD
TM7SF2	O76062	p.Arg407Trp	rs770048261	missense variant	-	NC_000011.10:g.65116015C>T	ExAC,gnomAD
TM7SF2	O76062	p.Arg408Cys	rs1280686488	missense variant	-	NC_000011.10:g.65116018C>T	gnomAD
TM7SF2	O76062	p.Arg408His	rs377534768	missense variant	-	NC_000011.10:g.65116019G>A	ESP,TOPMed,gnomAD
TM7SF2	O76062	p.Arg408Pro	COSM544564	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.65116019G>C	NCI-TCGA Cosmic
TM7SF2	O76062	p.Pro410Ser	rs771788944	missense variant	-	NC_000011.10:g.65116024C>T	ExAC,gnomAD
TM7SF2	O76062	p.Arg412His	rs370698238	missense variant	-	NC_000011.10:g.65116031G>A	ESP,TOPMed,gnomAD
TM7SF2	O76062	p.Arg412Cys	rs1458848167	missense variant	-	NC_000011.10:g.65116030C>T	gnomAD
TM7SF2	O76062	p.Met414Val	rs1023683629	missense variant	-	NC_000011.10:g.65116036A>G	TOPMed,gnomAD
TM7SF2	O76062	p.Met414Thr	rs746855481	missense variant	-	NC_000011.10:g.65116037T>C	ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Pro415Ser	rs1174760585	missense variant	-	NC_000011.10:g.65116039C>T	gnomAD
TM7SF2	O76062	p.Pro415Leu	rs975032673	missense variant	-	NC_000011.10:g.65116040C>T	gnomAD
TM7SF2	O76062	p.Tyr416Cys	rs1171305566	missense variant	-	NC_000011.10:g.65116043A>G	TOPMed,gnomAD
TM7SF2	O76062	p.Ile417Thr	rs1444901035	missense variant	-	NC_000011.10:g.65116046T>C	gnomAD
TM7SF2	O76062	p.Tyr418His	rs1330956370	missense variant	-	NC_000011.10:g.65116048T>C	gnomAD
TM7SF2	O76062	p.Ter419Ser	rs375604515	stop lost	-	NC_000011.10:g.65116052G>C	ESP,ExAC,TOPMed,gnomAD
TM7SF2	O76062	p.Ter419Cys	rs368355832	stop lost	-	NC_000011.10:g.65116053A>C	ESP,ExAC,gnomAD
FGF18	O76093	p.Tyr2Ser	rs1156866794	missense variant	-	NC_000005.10:g.171420204A>C	gnomAD
FGF18	O76093	p.Ala4Val	rs1384426981	missense variant	-	NC_000005.10:g.171420210C>T	gnomAD
FGF18	O76093	p.Pro5Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171420213C>T	NCI-TCGA
FGF18	O76093	p.Pro5Ser	rs1387858949	missense variant	-	NC_000005.10:g.171420212C>T	TOPMed,gnomAD
FGF18	O76093	p.Ala7Pro	rs550934107	missense variant	-	NC_000005.10:g.171420218G>C	1000Genomes,TOPMed,gnomAD
FGF18	O76093	p.Ala7Thr	rs550934107	missense variant	-	NC_000005.10:g.171420218G>A	1000Genomes,TOPMed,gnomAD
FGF18	O76093	p.Ala7Ser	rs550934107	missense variant	-	NC_000005.10:g.171420218G>T	1000Genomes,TOPMed,gnomAD
FGF18	O76093	p.Cys8Arg	rs775936004	missense variant	-	NC_000005.10:g.171420221T>C	ExAC,gnomAD
FGF18	O76093	p.Thr9Ile	rs914970331	missense variant	-	NC_000005.10:g.171420225C>T	gnomAD
FGF18	O76093	p.His14Pro	rs746317590	missense variant	-	NC_000005.10:g.171420415A>C	ExAC,gnomAD
FGF18	O76093	p.His14Leu	rs746317590	missense variant	-	NC_000005.10:g.171420415A>T	ExAC,gnomAD
FGF18	O76093	p.His14Gln	rs1235196216	missense variant	-	NC_000005.10:g.171420416C>G	gnomAD
FGF18	O76093	p.Phe15Leu	rs1472249925	missense variant	-	NC_000005.10:g.171420419C>A	TOPMed
FGF18	O76093	p.Leu18Pro	rs1361814813	missense variant	-	NC_000005.10:g.171420427T>C	TOPMed
FGF18	O76093	p.Phe20Leu	COSM449320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171420434C>A	NCI-TCGA Cosmic
FGF18	O76093	p.Gln21Glu	rs1397464749	missense variant	-	NC_000005.10:g.171420435C>G	gnomAD
FGF18	O76093	p.Val22Leu	rs374036367	missense variant	-	NC_000005.10:g.171420438G>T	ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Gln23Pro	rs1315393239	missense variant	-	NC_000005.10:g.171420442A>C	gnomAD
FGF18	O76093	p.Leu25Val	rs1239153876	missense variant	-	NC_000005.10:g.171436096C>G	TOPMed
FGF18	O76093	p.Val26Ile	rs758470984	missense variant	-	NC_000005.10:g.171436099G>A	ExAC,gnomAD
FGF18	O76093	p.Val26Ala	rs1455869974	missense variant	-	NC_000005.10:g.171436100T>C	gnomAD
FGF18	O76093	p.Glu28Lys	rs747503710	missense variant	-	NC_000005.10:g.171436105G>A	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Glu28Lys	rs747503710	missense variant	-	NC_000005.10:g.171436105G>A	NCI-TCGA,NCI-TCGA Cosmic
FGF18	O76093	p.Val31Met	rs781557133	missense variant	-	NC_000005.10:g.171436114G>A	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Phe33Leu	rs1429935280	missense variant	-	NC_000005.10:g.171436122C>G	gnomAD
FGF18	O76093	p.Arg34Cys	rs1316355669	missense variant	-	NC_000005.10:g.171436123C>T	TOPMed
FGF18	O76093	p.Arg34Cys	rs1316355669	missense variant	-	NC_000005.10:g.171436123C>T	NCI-TCGA Cosmic
FGF18	O76093	p.Arg34His	rs772878013	missense variant	-	NC_000005.10:g.171436124G>A	ExAC,gnomAD
FGF18	O76093	p.Ile35Met	rs377227813	missense variant	-	NC_000005.10:g.171436128C>G	ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Glu38Ter	rs770424234	stop gained	-	NC_000005.10:g.171436135G>T	ExAC,gnomAD
FGF18	O76093	p.Glu38Val	rs773745940	missense variant	-	NC_000005.10:g.171436136A>T	ExAC,gnomAD
FGF18	O76093	p.Gln40Arg	COSM3827682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171436142A>G	NCI-TCGA Cosmic
FGF18	O76093	p.Arg42Trp	rs1364168143	missense variant	-	NC_000005.10:g.171436147C>T	TOPMed,gnomAD
FGF18	O76093	p.Arg42Gln	rs759450877	missense variant	-	NC_000005.10:g.171436148G>A	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg42Leu	rs759450877	missense variant	-	NC_000005.10:g.171436148G>T	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Ala43Thr	rs1315199615	missense variant	-	NC_000005.10:g.171436150G>A	gnomAD
FGF18	O76093	p.Arg44Gln	rs775622513	missense variant	-	NC_000005.10:g.171436154G>A	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Asp45Asn	COSM3614160	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171436156G>A	NCI-TCGA Cosmic
FGF18	O76093	p.Asp46Asn	rs764018910	missense variant	-	NC_000005.10:g.171436159G>A	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Val47Met	rs1439909760	missense variant	-	NC_000005.10:g.171436162G>A	gnomAD
FGF18	O76093	p.Arg49Cys	COSM3853698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171436168C>T	NCI-TCGA Cosmic
FGF18	O76093	p.Arg49His	rs138337537	missense variant	-	NC_000005.10:g.171436169G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg49Leu	rs138337537	missense variant	-	NC_000005.10:g.171436169G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Lys50Arg	rs1405080420	missense variant	-	NC_000005.10:g.171436172A>G	gnomAD
FGF18	O76093	p.Gln51His	rs371464587	missense variant	-	NC_000005.10:g.171436176G>T	ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Gln51Arg	rs941616961	missense variant	-	NC_000005.10:g.171436175A>G	TOPMed
FGF18	O76093	p.Arg53Trp	rs755155972	missense variant	-	NC_000005.10:g.171436180C>T	ExAC,gnomAD
FGF18	O76093	p.Arg53Trp	rs755155972	missense variant	-	NC_000005.10:g.171436180C>T	NCI-TCGA
FGF18	O76093	p.Tyr55Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171436187A>G	NCI-TCGA
FGF18	O76093	p.Tyr58Ter	rs781656350	stop gained	-	NC_000005.10:g.171436197C>A	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg60Trp	rs756441926	missense variant	-	NC_000005.10:g.171436201C>T	ExAC,gnomAD
FGF18	O76093	p.Arg60Trp	rs756441926	missense variant	-	NC_000005.10:g.171436201C>T	NCI-TCGA,NCI-TCGA Cosmic
FGF18	O76093	p.Arg60Gln	rs1400846901	missense variant	-	NC_000005.10:g.171436202G>A	gnomAD
FGF18	O76093	p.Gly63Arg	rs1371217994	missense variant	-	NC_000005.10:g.171436210G>A	gnomAD
FGF18	O76093	p.Val68Ile	rs1381517920	missense variant	-	NC_000005.10:g.171436225G>A	TOPMed
FGF18	O76093	p.Gly70Ala	rs778692675	missense variant	-	NC_000005.10:g.171436232G>C	ExAC,gnomAD
FGF18	O76093	p.Arg71His	rs745353337	missense variant	-	NC_000005.10:g.171436235G>A	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg71Cys	rs1441510334	missense variant	-	NC_000005.10:g.171436234C>T	gnomAD
FGF18	O76093	p.Arg71Cys	RCV000736147	missense variant	-	NC_000005.10:g.171436234C>T	ClinVar
FGF18	O76093	p.Arg71His	rs745353337	missense variant	-	NC_000005.10:g.171436235G>A	NCI-TCGA
FGF18	O76093	p.Arg72Gly	rs1206112417	missense variant	-	NC_000005.10:g.171436237A>G	gnomAD
FGF18	O76093	p.Arg76His	rs775534638	missense variant	-	NC_000005.10:g.171436250G>A	NCI-TCGA,NCI-TCGA Cosmic
FGF18	O76093	p.Arg76Cys	rs771656785	missense variant	-	NC_000005.10:g.171436249C>T	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg76His	rs775534638	missense variant	-	NC_000005.10:g.171436250G>A	ExAC,gnomAD
FGF18	O76093	p.Gly80Glu	rs1164130904	missense variant	-	NC_000005.10:g.171436262G>A	gnomAD
FGF18	O76093	p.Gly80Arg	rs1474180921	missense variant	-	NC_000005.10:g.171436261G>A	gnomAD
FGF18	O76093	p.Asp81Asn	rs1423994384	missense variant	-	NC_000005.10:g.171436264G>A	gnomAD
FGF18	O76093	p.Gly94Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171449176G>A	NCI-TCGA
FGF18	O76093	p.Ser95Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171449180G>A	NCI-TCGA
FGF18	O76093	p.Gln96Glu	COSM3827683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171449182C>G	NCI-TCGA Cosmic
FGF18	O76093	p.Arg98Trp	rs1345063781	missense variant	-	NC_000005.10:g.171449188C>T	gnomAD
FGF18	O76093	p.Gly101Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171449197G>A	NCI-TCGA
FGF18	O76093	p.Lys102Glu	rs916027671	missense variant	-	NC_000005.10:g.171449200A>G	TOPMed
FGF18	O76093	p.Phe106Leu	rs759836429	missense variant	-	NC_000005.10:g.171449212T>C	ExAC,gnomAD
FGF18	O76093	p.Arg112His	rs201988531	missense variant	-	NC_000005.10:g.171449231G>A	NCI-TCGA
FGF18	O76093	p.Arg112His	rs201988531	missense variant	-	NC_000005.10:g.171449231G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Leu116Val	rs908750637	missense variant	-	NC_000005.10:g.171449242C>G	TOPMed
FGF18	O76093	p.Val117Met	rs765232190	missense variant	-	NC_000005.10:g.171449245G>A	gnomAD
FGF18	O76093	p.Val117Leu	rs765232190	missense variant	-	NC_000005.10:g.171449245G>T	gnomAD
FGF18	O76093	p.Gly118Trp	COSM1436012	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171449248G>T	NCI-TCGA Cosmic
FGF18	O76093	p.Asp121Tyr	COSM737717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456542G>T	NCI-TCGA Cosmic
FGF18	O76093	p.Asp121Asn	rs775745780	missense variant	-	NC_000005.10:g.171456542G>A	ExAC,gnomAD
FGF18	O76093	p.Gly122Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171456545G>A	NCI-TCGA
FGF18	O76093	p.Glu126Gln	COSM3827684	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456557G>C	NCI-TCGA Cosmic
FGF18	O76093	p.Phe129Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171456566T>C	NCI-TCGA
FGF18	O76093	p.Phe129Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171456568C>A	NCI-TCGA
FGF18	O76093	p.Thr139Met	rs758902974	missense variant	-	NC_000005.10:g.171456597C>T	NCI-TCGA,NCI-TCGA Cosmic
FGF18	O76093	p.Thr139Met	rs758902974	missense variant	-	NC_000005.10:g.171456597C>T	ExAC,gnomAD
FGF18	O76093	p.Ala140Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171456599G>A	NCI-TCGA
FGF18	O76093	p.Ser143Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171456609C>T	NCI-TCGA
FGF18	O76093	p.Gly148Ser	rs1487138082	missense variant	-	NC_000005.10:g.171456623G>A	TOPMed
FGF18	O76093	p.Trp149Ter	COSM6103392	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.171456628G>A	NCI-TCGA Cosmic
FGF18	O76093	p.Tyr150His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171456629T>C	NCI-TCGA
FGF18	O76093	p.Tyr150Phe	rs777636261	missense variant	-	NC_000005.10:g.171456630A>T	ExAC,gnomAD
FGF18	O76093	p.Val151Met	rs770760501	missense variant	-	NC_000005.10:g.171456632G>A	ExAC,gnomAD
FGF18	O76093	p.Gly157Trp	COSM6170647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456650G>T	NCI-TCGA Cosmic
FGF18	O76093	p.Arg158Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171456654G>T	NCI-TCGA
FGF18	O76093	p.Arg158Trp	COSM3339491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456653C>T	NCI-TCGA Cosmic
FGF18	O76093	p.Arg158Gln	rs1048603540	missense variant	-	NC_000005.10:g.171456654G>A	TOPMed,gnomAD
FGF18	O76093	p.Arg160Gln	rs376004950	missense variant	-	NC_000005.10:g.171456660G>A	ESP,TOPMed
FGF18	O76093	p.Arg160Trp	rs1327595547	missense variant	-	NC_000005.10:g.171456659C>T	gnomAD
FGF18	O76093	p.Arg166Trp	rs556878675	missense variant	-	NC_000005.10:g.171456677C>T	NCI-TCGA,NCI-TCGA Cosmic
FGF18	O76093	p.Arg166Trp	rs556878675	missense variant	-	NC_000005.10:g.171456677C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Glu167Lys	COSM3614161	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.171456680G>A	NCI-TCGA Cosmic
FGF18	O76093	p.Gln170Leu	rs766890171	missense variant	-	NC_000005.10:g.171456690A>T	ExAC,gnomAD
FGF18	O76093	p.Arg177His	rs1206095348	missense variant	-	NC_000005.10:g.171456711G>A	gnomAD
FGF18	O76093	p.Lys180Glu	rs1251092753	missense variant	-	NC_000005.10:g.171456719A>G	TOPMed,gnomAD
FGF18	O76093	p.Lys180Thr	rs759286664	missense variant	-	NC_000005.10:g.171456720A>C	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Lys180Arg	rs759286664	missense variant	-	NC_000005.10:g.171456720A>G	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Gly181Arg	rs1190637735	missense variant	-	NC_000005.10:g.171456722G>A	gnomAD
FGF18	O76093	p.Gly181Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171456723G>A	NCI-TCGA
FGF18	O76093	p.Gln182His	rs755637038	missense variant	-	NC_000005.10:g.171456727G>T	ExAC,gnomAD
FGF18	O76093	p.Pro183Leu	rs150911562	missense variant	-	NC_000005.10:g.171456729C>T	ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Glu184Asp	rs374632508	missense variant	-	NC_000005.10:g.171456733G>T	ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Glu184Asp	rs374632508	missense variant	-	NC_000005.10:g.171456733G>C	ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Leu185Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.171456734C>T	NCI-TCGA
FGF18	O76093	p.Leu185Val	rs768924757	missense variant	-	NC_000005.10:g.171456734C>G	ExAC,gnomAD
FGF18	O76093	p.Tyr191Phe	rs1416118830	missense variant	-	NC_000005.10:g.171456753A>T	gnomAD
FGF18	O76093	p.Thr192Met	rs1310584496	missense variant	-	NC_000005.10:g.171456756C>T	TOPMed,gnomAD
FGF18	O76093	p.Thr192Arg	rs1310584496	missense variant	-	NC_000005.10:g.171456756C>G	TOPMed,gnomAD
FGF18	O76093	p.Thr193Met	rs748249613	missense variant	-	NC_000005.10:g.171456759C>T	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Thr193Met	rs748249613	missense variant	-	NC_000005.10:g.171456759C>T	NCI-TCGA,NCI-TCGA Cosmic
FGF18	O76093	p.Arg199His	rs763585537	missense variant	-	NC_000005.10:g.171456777G>A	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg199Leu	rs763585537	missense variant	-	NC_000005.10:g.171456777G>T	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg199Cys	rs772362026	missense variant	-	NC_000005.10:g.171456776C>T	ExAC,gnomAD
FGF18	O76093	p.Arg200Trp	rs774871591	missense variant	-	NC_000005.10:g.171456779C>T	ExAC,gnomAD
FGF18	O76093	p.Arg200Gln	rs371575721	missense variant	-	NC_000005.10:g.171456780G>A	ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg200Gly	rs774871591	missense variant	-	NC_000005.10:g.171456779C>G	ExAC,gnomAD
FGF18	O76093	p.Arg200Leu	rs371575721	missense variant	-	NC_000005.10:g.171456780G>T	ESP,ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg200Gln	rs371575721	missense variant	-	NC_000005.10:g.171456780G>A	NCI-TCGA,NCI-TCGA Cosmic
FGF18	O76093	p.Arg202Gln	rs752340225	missense variant	-	NC_000005.10:g.171456786G>A	ExAC,TOPMed,gnomAD
FGF18	O76093	p.Arg202Trp	rs546008025	missense variant	-	NC_000005.10:g.171456785C>T	1000Genomes,ExAC,gnomAD
FGF18	O76093	p.Pro203Ala	rs375757183	missense variant	-	NC_000005.10:g.171456788C>G	ESP,TOPMed,gnomAD
FGF18	O76093	p.Pro203Ser	rs375757183	missense variant	-	NC_000005.10:g.171456788C>T	NCI-TCGA,NCI-TCGA Cosmic
FGF18	O76093	p.Pro203Ser	rs375757183	missense variant	-	NC_000005.10:g.171456788C>T	ESP,TOPMed,gnomAD
FGF18	O76093	p.Thr204Ile	rs1307977628	missense variant	-	NC_000005.10:g.171456792C>T	TOPMed
FGF18	O76093	p.His205Arg	rs1187616533	missense variant	-	NC_000005.10:g.171456795A>G	TOPMed,gnomAD
FGF18	O76093	p.Pro206Thr	rs1217256632	missense variant	-	NC_000005.10:g.171456797C>A	TOPMed
FGF18	O76093	p.Pro206Ala	rs1217256632	missense variant	-	NC_000005.10:g.171456797C>G	TOPMed
FGF18	O76093	p.Pro206Leu	rs1021408845	missense variant	-	NC_000005.10:g.171456798C>T	TOPMed
RECQL5	O94762	p.Ser2Asn	rs74526564	missense variant	-	NC_000017.11:g.75666553C>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser2Arg	rs1279254609	missense variant	-	NC_000017.11:g.75666554T>G	TOPMed
RECQL5	O94762	p.His4Arg	rs1243903186	missense variant	-	NC_000017.11:g.75666547T>C	gnomAD
RECQL5	O94762	p.His5Arg	rs764221723	missense variant	-	NC_000017.11:g.75666544T>C	ExAC,gnomAD
RECQL5	O94762	p.Thr7SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.75666538_75666539insCTCACGCCTGTAATCCCAGCAC	NCI-TCGA
RECQL5	O94762	p.Phe8Leu	rs756393873	missense variant	-	NC_000017.11:g.75666536A>G	ExAC,gnomAD
RECQL5	O94762	p.Pro9Leu	rs752906501	missense variant	-	NC_000017.11:g.75666532G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro12Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75666523G>A	NCI-TCGA
RECQL5	O94762	p.Pro12Ser	rs980168414	missense variant	-	NC_000017.11:g.75666524G>A	TOPMed,gnomAD
RECQL5	O94762	p.Arg14Gln	rs1300960988	missense variant	-	NC_000017.11:g.75666517C>T	gnomAD
RECQL5	O94762	p.Arg14Trp	rs1392458321	missense variant	-	NC_000017.11:g.75666518G>A	gnomAD
RECQL5	O94762	p.Val16Ile	rs1203603208	missense variant	-	NC_000017.11:g.75666512C>T	TOPMed,gnomAD
RECQL5	O94762	p.Arg17Gln	rs767761106	missense variant	-	NC_000017.11:g.75666508C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser18Asn	rs1380450414	missense variant	-	NC_000017.11:g.75666505C>T	gnomAD
RECQL5	O94762	p.Thr19Met	rs142728014	missense variant	-	NC_000017.11:g.75666502G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys22Asn	rs570464439	missense variant	-	NC_000017.11:g.75666492C>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val23Phe	rs761686100	missense variant	-	NC_000017.11:g.75666491C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val23Gly	rs1271296618	missense variant	-	NC_000017.11:g.75666490A>C	gnomAD
RECQL5	O94762	p.Val23Ile	rs761686100	missense variant	-	NC_000017.11:g.75666491C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe24Ser	rs1220591408	missense variant	-	NC_000017.11:g.75666487A>G	gnomAD
RECQL5	O94762	p.Gly25Arg	rs1490206734	missense variant	-	NC_000017.11:g.75666485C>T	gnomAD
RECQL5	O94762	p.Phe26Leu	rs961965471	missense variant	-	NC_000017.11:g.75666480A>T	gnomAD
RECQL5	O94762	p.Ser28Pro	rs1015853934	missense variant	-	NC_000017.11:g.75666476A>G	TOPMed
RECQL5	O94762	p.Phe29LeuPheSerTerUnkUnk	COSM1386015	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.75666471A>-	NCI-TCGA Cosmic
RECQL5	O94762	p.Thr31Met	rs34137764	missense variant	-	NC_000017.11:g.75666466G>A	TOPMed
RECQL5	O94762	p.Pro32Leu	rs760210513	missense variant	-	NC_000017.11:g.75666463G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro32Ala	rs768089295	missense variant	-	NC_000017.11:g.75666464G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro32Ser	rs768089295	missense variant	-	NC_000017.11:g.75666464G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu33Ser	rs138735189	missense variant	-	NC_000017.11:g.75666460A>G	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gln34Ter	rs771752520	stop gained	-	NC_000017.11:g.75666458G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser36Thr	rs746223130	missense variant	-	NC_000017.11:g.75666451C>G	ExAC,gnomAD
RECQL5	O94762	p.Ala37Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75666448G>A	NCI-TCGA
RECQL5	O94762	p.Thr38Ala	rs747371486	missense variant	-	NC_000017.11:g.75666446T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Met39Val	rs1383466708	missense variant	-	NC_000017.11:g.75666443T>C	gnomAD
RECQL5	O94762	p.Ala40Thr	rs1158550121	missense variant	-	NC_000017.11:g.75666440C>T	gnomAD
RECQL5	O94762	p.Val42Ile	rs546835346	missense variant	-	NC_000017.11:g.75666434C>T	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Lys43Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75666429T>G	NCI-TCGA
RECQL5	O94762	p.Lys43Arg	rs1431992681	missense variant	-	NC_000017.11:g.75666430T>C	gnomAD
RECQL5	O94762	p.Gly44Asp	rs375072095	missense variant	-	NC_000017.11:g.75665172C>T	ESP,ExAC,gnomAD
RECQL5	O94762	p.Asn45Ser	rs781282018	missense variant	-	NC_000017.11:g.75665169T>C	ExAC,gnomAD
RECQL5	O94762	p.Asp47Glu	rs145732862	missense variant	-	NC_000017.11:g.75665162G>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp47Gly	rs933891179	missense variant	-	NC_000017.11:g.75665163T>C	TOPMed
RECQL5	O94762	p.Val48Ile	rs548064379	missense variant	-	NC_000017.11:g.75665161C>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val48Leu	rs548064379	missense variant	-	NC_000017.11:g.75665161C>G	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe49Ser	rs780225983	missense variant	-	NC_000017.11:g.75665157A>G	ExAC
RECQL5	O94762	p.Met52Val	rs1284278188	missense variant	-	NC_000017.11:g.75665149T>C	gnomAD
RECQL5	O94762	p.Pro53Leu	rs534932735	missense variant	-	NC_000017.11:g.75665145G>A	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Thr54Ala	rs753625950	missense variant	-	NC_000017.11:g.75665143T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Thr54Ser	rs753625950	missense variant	-	NC_000017.11:g.75665143T>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly57Glu	rs767015245	missense variant	-	NC_000017.11:g.75665133C>T	ExAC,gnomAD
RECQL5	O94762	p.Ser59Phe	COSM5893942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75665127G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Gln63His	rs766120357	missense variant	-	NC_000017.11:g.75665114C>G	ExAC,gnomAD
RECQL5	O94762	p.Gln63Ter	rs1446317442	stop gained	-	NC_000017.11:g.75665116G>A	gnomAD
RECQL5	O94762	p.Leu64Phe	rs61733534	missense variant	-	NC_000017.11:g.75665113G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu64Val	rs61733534	missense variant	-	NC_000017.11:g.75665113G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro65Arg	rs1458046240	missense variant	-	NC_000017.11:g.75665109G>C	gnomAD
RECQL5	O94762	p.Leu68Ser	rs770221228	missense variant	-	NC_000017.11:g.75665100A>G	ExAC,gnomAD
RECQL5	O94762	p.Ile74Val	rs552350778	missense variant	-	NC_000017.11:g.75665083T>C	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Ile74Thr	rs776970335	missense variant	-	NC_000017.11:g.75665082A>G	ExAC,gnomAD
RECQL5	O94762	p.Val75Ile	rs1214969853	missense variant	-	NC_000017.11:g.75665080C>T	TOPMed
RECQL5	O94762	p.Pro78Ser	rs1245964295	missense variant	-	NC_000017.11:g.75665071G>A	gnomAD
RECQL5	O94762	p.Leu79Phe	rs747076470	missense variant	-	NC_000017.11:g.75665068G>A	ExAC,gnomAD
RECQL5	O94762	p.Leu79Val	rs747076470	missense variant	-	NC_000017.11:g.75665068G>C	ExAC,gnomAD
RECQL5	O94762	p.Ile80Val	rs780321333	missense variant	-	NC_000017.11:g.75665065T>C	ExAC,gnomAD
RECQL5	O94762	p.Ala81Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75665061G>A	NCI-TCGA
RECQL5	O94762	p.Gln84Arg	rs138314635	missense variant	-	NC_000017.11:g.75665052T>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp85Asn	rs1264160926	missense variant	-	NC_000017.11:g.75662997C>T	gnomAD
RECQL5	O94762	p.Asp85Tyr	rs1264160926	missense variant	-	NC_000017.11:g.75662997C>A	gnomAD
RECQL5	O94762	p.Val87Met	rs781348338	missense variant	-	NC_000017.11:g.75662991C>T	ExAC,gnomAD
RECQL5	O94762	p.Val87Leu	rs781348338	missense variant	-	NC_000017.11:g.75662991C>G	ExAC,gnomAD
RECQL5	O94762	p.His89Tyr	rs374661348	missense variant	-	NC_000017.11:g.75662985G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu90Phe	rs779667518	missense variant	-	NC_000017.11:g.75662980C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu91Ile	rs1452980294	missense variant	-	NC_000017.11:g.75662979G>T	gnomAD
RECQL5	O94762	p.Leu91Pro	rs1406459312	missense variant	-	NC_000017.11:g.75662978A>G	gnomAD
RECQL5	O94762	p.Thr92Ile	COSM3522222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75662975G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Leu93Pro	rs750136431	missense variant	-	NC_000017.11:g.75662972A>G	ExAC,gnomAD
RECQL5	O94762	p.Arg96Gln	rs754082956	missense variant	-	NC_000017.11:g.75662963C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg96Ter	rs1042201633	stop gained	-	NC_000017.11:g.75662964G>A	TOPMed
RECQL5	O94762	p.Val97Ile	rs764597311	missense variant	-	NC_000017.11:g.75662961C>T	ExAC,gnomAD
RECQL5	O94762	p.Ser98Ile	rs146861903	missense variant	-	NC_000017.11:g.75662957C>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser98Asn	rs146861903	missense variant	-	NC_000017.11:g.75662957C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser102Leu	rs945091698	missense variant	-	NC_000017.11:g.75662945G>A	TOPMed,gnomAD
RECQL5	O94762	p.Leu104Arg	rs759514664	missense variant	-	NC_000017.11:g.75662939A>C	ExAC,gnomAD
RECQL5	O94762	p.Ser105Cys	rs376899877	missense variant	-	NC_000017.11:g.75662936G>C	ESP,ExAC,gnomAD
RECQL5	O94762	p.Glu108Ter	rs1281910528	stop gained	-	NC_000017.11:g.75662928C>A	TOPMed
RECQL5	O94762	p.Lys110Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.75662922T>A	NCI-TCGA
RECQL5	O94762	p.Lys110Arg	rs1383466826	missense variant	-	NC_000017.11:g.75662921T>C	gnomAD
RECQL5	O94762	p.Glu111Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.75662919C>A	NCI-TCGA
RECQL5	O94762	p.Ala114Gly	rs1271913143	missense variant	-	NC_000017.11:g.75662909G>C	TOPMed
RECQL5	O94762	p.Ala114Thr	rs1405171972	missense variant	-	NC_000017.11:g.75662910C>T	gnomAD
RECQL5	O94762	p.Leu116Val	rs757982273	missense variant	-	NC_000017.11:g.75662904G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu116Met	rs757982273	missense variant	-	NC_000017.11:g.75662904G>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg118Gln	rs769096302	missense variant	-	NC_000017.11:g.75662897C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg118Pro	rs769096302	missense variant	-	NC_000017.11:g.75662897C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg118Ter	rs1463215168	stop gained	-	NC_000017.11:g.75662898G>A	gnomAD
RECQL5	O94762	p.Pro121AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.75662890_75662891insT	NCI-TCGA
RECQL5	O94762	p.Pro121Leu	rs1485309555	missense variant	-	NC_000017.11:g.75662888G>A	TOPMed
RECQL5	O94762	p.Gln122Leu	rs1469700068	missense variant	-	NC_000017.11:g.75662885T>A	gnomAD
RECQL5	O94762	p.Ile128Val	rs754251938	missense variant	-	NC_000017.11:g.75662868T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile128Thr	rs749418602	missense variant	-	NC_000017.11:g.75662867A>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro130Leu	rs573783187	missense variant	-	NC_000017.11:g.75662861G>A	1000Genomes
RECQL5	O94762	p.Pro130Ser	rs760986796	missense variant	-	NC_000017.11:g.75662862G>A	ExAC,gnomAD
RECQL5	O94762	p.Met132Leu	rs753224016	missense variant	-	NC_000017.11:g.75662856T>A	ExAC,gnomAD
RECQL5	O94762	p.Ala133Thr	rs1481759737	missense variant	-	NC_000017.11:g.75662853C>T	gnomAD
RECQL5	O94762	p.Ser135Leu	rs1226756008	missense variant	-	NC_000017.11:g.75662846G>A	TOPMed,gnomAD
RECQL5	O94762	p.Gln139Pro	rs759663263	missense variant	-	NC_000017.11:g.75662834T>G	ExAC,gnomAD
RECQL5	O94762	p.Gln139Ter	COSM3890424	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.75662835G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Leu142Pro	rs1448002478	missense variant	-	NC_000017.11:g.75662825A>G	TOPMed
RECQL5	O94762	p.Asn143Ser	rs1317073268	missense variant	-	NC_000017.11:g.75662822T>C	gnomAD
RECQL5	O94762	p.Asn143Lys	rs1371623758	missense variant	-	NC_000017.11:g.75662821G>C	TOPMed
RECQL5	O94762	p.Leu145Val	rs1243762239	missense variant	-	NC_000017.11:g.75662817G>C	gnomAD
RECQL5	O94762	p.Val146Leu	rs1381702206	missense variant	-	NC_000017.11:g.75662814C>A	gnomAD
RECQL5	O94762	p.Val146Ala	rs774287498	missense variant	-	NC_000017.11:g.75662813A>G	ExAC,gnomAD
RECQL5	O94762	p.Arg148Cys	rs780333281	missense variant	-	NC_000017.11:g.75662808G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg148His	rs1297288576	missense variant	-	NC_000017.11:g.75662807C>T	TOPMed,gnomAD
RECQL5	O94762	p.His149Pro	rs1424732571	missense variant	-	NC_000017.11:g.75662804T>G	gnomAD
RECQL5	O94762	p.Leu151Pro	rs768596889	missense variant	-	NC_000017.11:g.75662798A>G	ExAC,gnomAD
RECQL5	O94762	p.Leu154Phe	rs1308025827	missense variant	-	NC_000017.11:g.75662788C>G	gnomAD
RECQL5	O94762	p.Val155Leu	rs1368214473	missense variant	-	NC_000017.11:g.75662787C>A	TOPMed,gnomAD
RECQL5	O94762	p.Val156Leu	rs984596020	missense variant	-	NC_000017.11:g.75662784C>A	TOPMed,gnomAD
RECQL5	O94762	p.Val156Ala	rs1362592493	missense variant	-	NC_000017.11:g.75662783A>G	TOPMed
RECQL5	O94762	p.Asp157Gly	rs1248650774	missense variant	-	NC_000017.11:g.75662780T>C	gnomAD
RECQL5	O94762	p.Ala159Thr	rs771901158	missense variant	-	NC_000017.11:g.75662775C>T	ExAC,gnomAD
RECQL5	O94762	p.His160Tyr	rs1298038770	missense variant	-	NC_000017.11:g.75662772G>A	TOPMed
RECQL5	O94762	p.Val162Ile	rs1442643516	missense variant	-	NC_000017.11:g.75662766C>T	TOPMed,gnomAD
RECQL5	O94762	p.Ser163Pro	rs1294061527	missense variant	-	NC_000017.11:g.75662763A>G	gnomAD
RECQL5	O94762	p.Gln164Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75662759T>C	NCI-TCGA
RECQL5	O94762	p.Trp165Cys	rs1325669154	missense variant	-	NC_000017.11:g.75662755C>G	gnomAD
RECQL5	O94762	p.Trp165Arg	rs1280710819	missense variant	-	NC_000017.11:g.75662757A>G	TOPMed
RECQL5	O94762	p.His167Asn	rs1356827385	missense variant	-	NC_000017.11:g.75662751G>T	TOPMed,gnomAD
RECQL5	O94762	p.Arg170Cys	rs1339575010	missense variant	-	NC_000017.11:g.75662742G>A	TOPMed,gnomAD
RECQL5	O94762	p.Arg170His	rs745441915	missense variant	-	NC_000017.11:g.75662741C>T	ExAC,gnomAD
RECQL5	O94762	p.Pro171Leu	rs778264798	missense variant	-	NC_000017.11:g.75662738G>A	ExAC,gnomAD
RECQL5	O94762	p.Tyr173Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75662732T>C	NCI-TCGA
RECQL5	O94762	p.Leu174Ter	rs200668259	stop gained	-	NC_000017.11:g.75662729A>T	ExAC,TOPMed
RECQL5	O94762	p.Leu174Trp	rs200668259	missense variant	-	NC_000017.11:g.75662729A>C	ExAC,TOPMed
RECQL5	O94762	p.Arg175Cys	rs972145896	missense variant	-	NC_000017.11:g.75662727G>A	TOPMed,gnomAD
RECQL5	O94762	p.Arg175Ser	rs972145896	missense variant	-	NC_000017.11:g.75662727G>T	TOPMed,gnomAD
RECQL5	O94762	p.Arg175His	rs192913858	missense variant	-	NC_000017.11:g.75662726C>T	1000Genomes,TOPMed,gnomAD
RECQL5	O94762	p.Arg180His	rs202162742	missense variant	-	NC_000017.11:g.75662711C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg180Cys	rs114867126	missense variant	-	NC_000017.11:g.75662712G>A	1000Genomes,ESP,ExAC,gnomAD
RECQL5	O94762	p.Ser181Cys	rs1019383338	missense variant	-	NC_000017.11:g.75662708G>C	TOPMed,gnomAD
RECQL5	O94762	p.Ser181Phe	rs1019383338	missense variant	-	NC_000017.11:g.75662708G>A	TOPMed,gnomAD
RECQL5	O94762	p.Arg182Cys	rs373102473	missense variant	-	NC_000017.11:g.75662706G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg182His	rs369553617	missense variant	-	NC_000017.11:g.75662705C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu183Pro	rs1362481757	missense variant	-	NC_000017.11:g.75662702A>G	TOPMed,gnomAD
RECQL5	O94762	p.His185Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75662697G>C	NCI-TCGA
RECQL5	O94762	p.His185Arg	rs766404961	missense variant	-	NC_000017.11:g.75662696T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.His185Tyr	rs1202340850	missense variant	-	NC_000017.11:g.75662697G>A	gnomAD
RECQL5	O94762	p.Ala186Thr	rs141276648	missense variant	-	NC_000017.11:g.75662694C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala186Gly	rs1197395443	missense variant	-	NC_000017.11:g.75662693G>C	gnomAD
RECQL5	O94762	p.Cys188Ser	rs1284859514	missense variant	-	NC_000017.11:g.75662687C>G	TOPMed,gnomAD
RECQL5	O94762	p.Cys188Phe	rs1284859514	missense variant	-	NC_000017.11:g.75662687C>A	TOPMed,gnomAD
RECQL5	O94762	p.Ala190Val	rs772096029	missense variant	-	NC_000017.11:g.75662681G>A	ExAC,gnomAD
RECQL5	O94762	p.Ala190Ser	rs775413688	missense variant	-	NC_000017.11:g.75662682C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu191Arg	rs1347030663	missense variant	-	NC_000017.11:g.75662678A>C	gnomAD
RECQL5	O94762	p.Ala193Phe	NCI-TCGA novel	insertion	-	NC_000017.11:g.75662670_75662671insAAA	NCI-TCGA
RECQL5	O94762	p.Ala193Thr	COSM1386013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75662673C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Thr194IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.75662669_75662670insA	NCI-TCGA
RECQL5	O94762	p.Thr194Ser	rs1403765879	missense variant	-	NC_000017.11:g.75662670T>A	gnomAD
RECQL5	O94762	p.Ala195Thr	rs1451351311	missense variant	-	NC_000017.11:g.75662667C>T	TOPMed
RECQL5	O94762	p.Pro197Arg	rs985107055	missense variant	-	NC_000017.11:g.75662660G>C	TOPMed,gnomAD
RECQL5	O94762	p.Pro197Leu	rs985107055	missense variant	-	NC_000017.11:g.75662660G>A	TOPMed,gnomAD
RECQL5	O94762	p.Pro197Gln	rs985107055	missense variant	-	NC_000017.11:g.75662660G>T	TOPMed,gnomAD
RECQL5	O94762	p.Asp202Tyr	rs1159165541	missense variant	-	NC_000017.11:g.75662646C>A	TOPMed
RECQL5	O94762	p.Val203Met	rs373202958	missense variant	-	NC_000017.11:g.75662643C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala206Val	rs1056533482	missense variant	-	NC_000017.11:g.75662633G>A	TOPMed
RECQL5	O94762	p.Ala206Gly	rs1056533482	missense variant	-	NC_000017.11:g.75662633G>C	TOPMed
RECQL5	O94762	p.Leu207Pro	rs755756738	missense variant	-	NC_000017.11:g.75662630A>G	ExAC,gnomAD
RECQL5	O94762	p.His208Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75662628G>A	NCI-TCGA
RECQL5	O94762	p.His208Gln	rs1174605700	missense variant	-	NC_000017.11:g.75662626G>C	gnomAD
RECQL5	O94762	p.Leu209Pro	rs937656546	missense variant	-	NC_000017.11:g.75662624A>G	TOPMed
RECQL5	O94762	p.Lys210Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75662620C>A	NCI-TCGA
RECQL5	O94762	p.Lys210Arg	rs748566945	missense variant	-	NC_000017.11:g.75662621T>C	ExAC,gnomAD
RECQL5	O94762	p.Lys211Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75662618T>G	NCI-TCGA
RECQL5	O94762	p.Ile215Val	rs755333845	missense variant	-	NC_000017.11:g.75662607T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile215Leu	rs755333845	missense variant	-	NC_000017.11:g.75662607T>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe216Leu	rs752033458	missense variant	-	NC_000017.11:g.75662604A>G	ExAC,gnomAD
RECQL5	O94762	p.Lys217Glu	rs200647484	missense variant	-	NC_000017.11:g.75662601T>C	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Thr218Ile	rs1204034120	missense variant	-	NC_000017.11:g.75662597G>A	gnomAD
RECQL5	O94762	p.Pro219Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75662594G>A	NCI-TCGA
RECQL5	O94762	p.Pro219Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75662594G>C	NCI-TCGA
RECQL5	O94762	p.Pro219His	rs1208341893	missense variant	-	NC_000017.11:g.75662594G>T	TOPMed
RECQL5	O94762	p.Cys220Ser	rs758558276	missense variant	-	NC_000017.11:g.75662591C>G	ExAC,gnomAD
RECQL5	O94762	p.Arg222Gln	rs762104670	missense variant	-	NC_000017.11:g.75662585C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg222Gly	rs765614838	missense variant	-	NC_000017.11:g.75662586G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg222Trp	rs765614838	missense variant	-	NC_000017.11:g.75662586G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala223Thr	rs775466877	missense variant	-	NC_000017.11:g.75662583C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asn224Ser	rs767246768	missense variant	-	NC_000017.11:g.75662579T>C	ExAC,gnomAD
RECQL5	O94762	p.Leu225Ile	rs774167298	missense variant	-	NC_000017.11:g.75662577G>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu225Val	rs774167298	missense variant	-	NC_000017.11:g.75662577G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Tyr227Cys	rs1367472934	missense variant	-	NC_000017.11:g.75662570T>C	TOPMed
RECQL5	O94762	p.Val229Met	rs966529780	missense variant	-	NC_000017.11:g.75662565C>T	TOPMed
RECQL5	O94762	p.Gln230Pro	rs1408828599	missense variant	-	NC_000017.11:g.75662561T>G	gnomAD
RECQL5	O94762	p.Lys232Thr	rs762514267	missense variant	-	NC_000017.11:g.75662555T>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys232Arg	rs762514267	missense variant	-	NC_000017.11:g.75662555T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile235Thr	rs1352257590	missense variant	-	NC_000017.11:g.75662546A>G	TOPMed
RECQL5	O94762	p.Asp237Asn	rs377278442	missense variant	-	NC_000017.11:g.75662541C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp237His	rs377278442	missense variant	-	NC_000017.11:g.75662541C>G	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Tyr239Ter	rs1242848440	stop gained	-	NC_000017.11:g.75662533A>C	TOPMed
RECQL5	O94762	p.Tyr239Cys	rs372882936	missense variant	-	NC_000017.11:g.75662534T>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asn241Ser	rs768919209	missense variant	-	NC_000017.11:g.75662528T>C	ExAC,gnomAD
RECQL5	O94762	p.Asp244Glu	rs1032996505	missense variant	-	NC_000017.11:g.75662518G>C	TOPMed
RECQL5	O94762	p.Asp244Tyr	rs1357440516	missense variant	-	NC_000017.11:g.75662520C>A	TOPMed
RECQL5	O94762	p.Phe245Leu	COSM4860214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75662515G>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Cys246Gly	rs1438079990	missense variant	-	NC_000017.11:g.75662514A>C	gnomAD
RECQL5	O94762	p.Cys246Tyr	rs780494394	missense variant	-	NC_000017.11:g.75662513C>T	ExAC,gnomAD
RECQL5	O94762	p.Lys248Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75662506C>A	NCI-TCGA
RECQL5	O94762	p.Leu250Phe	rs1297510127	missense variant	-	NC_000017.11:g.75662502G>A	gnomAD
RECQL5	O94762	p.Gln252Pro	rs758960976	missense variant	-	NC_000017.11:g.75662495T>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gln252Arg	rs758960976	missense variant	-	NC_000017.11:g.75662495T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp255Asn	rs756078828	missense variant	-	NC_000017.11:g.75662487C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys256Thr	rs1421595059	missense variant	-	NC_000017.11:g.75662483T>G	TOPMed
RECQL5	O94762	p.Gly257Glu	rs1355311785	missense variant	-	NC_000017.11:g.75662480C>T	TOPMed,gnomAD
RECQL5	O94762	p.Gly257Arg	rs779105769	missense variant	-	NC_000017.11:g.75662481C>G	ExAC,gnomAD
RECQL5	O94762	p.Gly257Val	rs1355311785	missense variant	-	NC_000017.11:g.75662480C>A	TOPMed,gnomAD
RECQL5	O94762	p.Gly260Asp	rs1226746043	missense variant	-	NC_000017.11:g.75661701C>T	gnomAD
RECQL5	O94762	p.Cys261Tyr	rs558602271	missense variant	-	NC_000017.11:g.75661698C>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly262Ser	rs373595702	missense variant	-	NC_000017.11:g.75661696C>T	ESP,ExAC,gnomAD
RECQL5	O94762	p.Tyr265Ser	rs114020363	missense variant	-	NC_000017.11:g.75661686T>G	1000Genomes
RECQL5	O94762	p.Arg267Lys	rs1365649983	missense variant	-	NC_000017.11:g.75661680C>T	gnomAD
RECQL5	O94762	p.Thr268Ala	rs77330501	missense variant	-	NC_000017.11:g.75661678T>C	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg269Gly	rs1346697652	missense variant	-	NC_000017.11:g.75661675T>C	gnomAD
RECQL5	O94762	p.Arg269Thr	COSM1480011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75661674C>G	NCI-TCGA Cosmic
RECQL5	O94762	p.Ala271Pro	rs1156710356	missense variant	-	NC_000017.11:g.75661669C>G	gnomAD
RECQL5	O94762	p.Cys272Tyr	rs201246907	missense variant	-	NC_000017.11:g.75661665C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Cys272Phe	rs201246907	missense variant	-	NC_000017.11:g.75661665C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu273Ala	rs775002332	missense variant	-	NC_000017.11:g.75661662T>G	ExAC,gnomAD
RECQL5	O94762	p.Glu273Lys	rs775244001	missense variant	-	NC_000017.11:g.75661663C>T	ExAC,gnomAD
RECQL5	O94762	p.Glu273Gly	rs775002332	missense variant	-	NC_000017.11:g.75661662T>C	ExAC,gnomAD
RECQL5	O94762	p.Glu273Ter	rs775244001	stop gained	-	NC_000017.11:g.75661663C>A	ExAC,gnomAD
RECQL5	O94762	p.Glu273Val	rs775002332	missense variant	-	NC_000017.11:g.75661662T>A	ExAC,gnomAD
RECQL5	O94762	p.Gln274Lys	rs749382271	missense variant	-	NC_000017.11:g.75661660G>T	ExAC,gnomAD
RECQL5	O94762	p.Gln274Glu	rs749382271	missense variant	-	NC_000017.11:g.75661660G>C	ExAC,gnomAD
RECQL5	O94762	p.Leu275Pro	rs748429720	missense variant	-	NC_000017.11:g.75661656A>G	ExAC
RECQL5	O94762	p.Leu275Met	rs756327020	missense variant	-	NC_000017.11:g.75661657G>T	ExAC
RECQL5	O94762	p.Ala276Gly	rs758197496	missense variant	-	NC_000017.11:g.75661653G>C	ExAC
RECQL5	O94762	p.Ile277Leu	rs199943360	missense variant	-	NC_000017.11:g.75661651T>G	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile277Thr	rs1191064911	missense variant	-	NC_000017.11:g.75661650A>G	gnomAD
RECQL5	O94762	p.Ile277Val	rs199943360	missense variant	-	NC_000017.11:g.75661651T>C	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu278Gln	COSM6082039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75661648C>G	NCI-TCGA Cosmic
RECQL5	O94762	p.Leu279Ile	rs757197036	missense variant	-	NC_000017.11:g.75661645G>T	ExAC
RECQL5	O94762	p.Cys281Arg	rs753331428	missense variant	-	NC_000017.11:g.75661639A>G	ExAC,gnomAD
RECQL5	O94762	p.Cys281Trp	rs200213823	missense variant	-	NC_000017.11:g.75661637G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly283Ser	rs775295140	missense variant	-	NC_000017.11:g.75661633C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val284Met	rs1294517967	missense variant	-	NC_000017.11:g.75661630C>T	TOPMed
RECQL5	O94762	p.Asn285Lys	rs114393199	missense variant	-	NC_000017.11:g.75661625G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala286Thr	rs771388094	missense variant	-	NC_000017.11:g.75661624C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala286Val	rs1248952256	missense variant	-	NC_000017.11:g.75661623G>A	TOPMed
RECQL5	O94762	p.Lys287Arg	rs1215050423	missense variant	-	NC_000017.11:g.75661620T>C	gnomAD
RECQL5	O94762	p.Ala288Pro	rs749768889	missense variant	-	NC_000017.11:g.75661618C>G	ExAC,gnomAD
RECQL5	O94762	p.Ala288Thr	rs749768889	missense variant	-	NC_000017.11:g.75661618C>T	ExAC,gnomAD
RECQL5	O94762	p.Tyr289Cys	rs773547796	missense variant	-	NC_000017.11:g.75661614T>C	ExAC,gnomAD
RECQL5	O94762	p.His290Arg	rs913259536	missense variant	-	NC_000017.11:g.75661611T>C	TOPMed,gnomAD
RECQL5	O94762	p.His290Tyr	rs769935593	missense variant	-	NC_000017.11:g.75661612G>A	ExAC,gnomAD
RECQL5	O94762	p.Leu293Arg	rs1167184373	missense variant	-	NC_000017.11:g.75661063A>C	gnomAD
RECQL5	O94762	p.Lys294Arg	rs766794250	missense variant	-	NC_000017.11:g.75661060T>C	ExAC,gnomAD
RECQL5	O94762	p.Ala295Val	rs763175448	missense variant	-	NC_000017.11:g.75661057G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg298Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75661048C>A	NCI-TCGA
RECQL5	O94762	p.Arg298Gly	rs1472245850	missense variant	-	NC_000017.11:g.75661049T>C	TOPMed,gnomAD
RECQL5	O94762	p.Thr299Met	rs947439645	missense variant	-	NC_000017.11:g.75661045G>A	TOPMed
RECQL5	O94762	p.Val301Met	rs532964714	missense variant	-	NC_000017.11:g.75661040C>T	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Val301Gly	COSM3522209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75661039A>C	NCI-TCGA Cosmic
RECQL5	O94762	p.Gln302His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75661035C>G	NCI-TCGA
RECQL5	O94762	p.Asn303Asp	rs776673162	missense variant	-	NC_000017.11:g.75661034T>C	ExAC,gnomAD
RECQL5	O94762	p.Asp304Asn	rs1473986109	missense variant	-	NC_000017.11:g.75661031C>T	TOPMed,gnomAD
RECQL5	O94762	p.Trp305Gly	rs1204291722	missense variant	-	NC_000017.11:g.75661028A>C	gnomAD
RECQL5	O94762	p.Met306Ile	rs370080850	missense variant	-	NC_000017.11:g.75661023C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys309Met	rs780090709	missense variant	-	NC_000017.11:g.75661015T>A	ExAC,gnomAD
RECQL5	O94762	p.Val310Ala	rs1392773439	missense variant	-	NC_000017.11:g.75661012A>G	TOPMed,gnomAD
RECQL5	O94762	p.Pro311Arg	rs1348021629	missense variant	-	NC_000017.11:g.75661009G>C	TOPMed,gnomAD
RECQL5	O94762	p.Val314Ala	rs1424794897	missense variant	-	NC_000017.11:g.75661000A>G	gnomAD
RECQL5	O94762	p.Ala315Val	rs1165570621	missense variant	-	NC_000017.11:g.75660997G>A	gnomAD
RECQL5	O94762	p.Thr316Ile	rs1186806744	missense variant	-	NC_000017.11:g.75660994G>A	TOPMed,gnomAD
RECQL5	O94762	p.Ser318Gly	rs777833134	missense variant	-	NC_000017.11:g.75660989T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe319Leu	rs755989538	missense variant	-	NC_000017.11:g.75660984A>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Met321Thr	rs35967086	missense variant	-	NC_000017.11:g.75660979A>G	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val323Met	COSM4866039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75660974C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Asn327Ser	rs1258479729	missense variant	-	NC_000017.11:g.75660961T>C	gnomAD
RECQL5	O94762	p.Asn327Tyr	rs1384673272	missense variant	-	NC_000017.11:g.75660962T>A	TOPMed
RECQL5	O94762	p.Arg329Met	COSM3691806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75660955C>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Phe330Leu	rs781222158	missense variant	-	NC_000017.11:g.75658457A>C	ExAC,gnomAD
RECQL5	O94762	p.Ala332Thr	rs201204572	missense variant	-	NC_000017.11:g.75658453C>T	NCI-TCGA,NCI-TCGA Cosmic
RECQL5	O94762	p.Ala332Thr	rs201204572	missense variant	-	NC_000017.11:g.75658453C>T	ExAC,gnomAD
RECQL5	O94762	p.Ala332Ser	rs201204572	missense variant	-	NC_000017.11:g.75658453C>A	ExAC,gnomAD
RECQL5	O94762	p.Trp334Ter	COSM1735266	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.75658446C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Trp334Gly	COSM473368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75658447A>C	NCI-TCGA Cosmic
RECQL5	O94762	p.Asn335His	rs757967452	missense variant	-	NC_000017.11:g.75658444T>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asn335Ser	rs116650736	missense variant	-	NC_000017.11:g.75658443T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile336Thr	rs1166738102	missense variant	-	NC_000017.11:g.75658440A>G	gnomAD
RECQL5	O94762	p.Lys338Arg	rs916795801	missense variant	-	NC_000017.11:g.75658434T>C	TOPMed,gnomAD
RECQL5	O94762	p.Ser339Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75658431G>T	NCI-TCGA
RECQL5	O94762	p.Ala341Thr	rs765553954	missense variant	-	NC_000017.11:g.75658426C>T	ExAC,gnomAD
RECQL5	O94762	p.Gly342Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75658422C>A	NCI-TCGA
RECQL5	O94762	p.Gly342Glu	rs868399159	missense variant	-	NC_000017.11:g.75658422C>T	gnomAD
RECQL5	O94762	p.Tyr343His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75658420A>G	NCI-TCGA
RECQL5	O94762	p.Tyr343Cys	rs754357449	missense variant	-	NC_000017.11:g.75658419T>C	ExAC,TOPMed
RECQL5	O94762	p.Tyr343Asp	rs757570015	missense variant	-	NC_000017.11:g.75658420A>C	ExAC,gnomAD
RECQL5	O94762	p.Tyr344Asn	rs888307062	missense variant	-	NC_000017.11:g.75658417A>T	TOPMed
RECQL5	O94762	p.Glu346Gln	rs1304099701	missense variant	-	NC_000017.11:g.75658411C>G	TOPMed
RECQL5	O94762	p.Ser347Thr	rs1330999841	missense variant	-	NC_000017.11:g.75658408A>T	gnomAD
RECQL5	O94762	p.Arg349Pro	rs769645716	missense variant	-	NC_000017.11:g.75658401C>G	ExAC,gnomAD
RECQL5	O94762	p.Arg349Gln	rs769645716	missense variant	-	NC_000017.11:g.75658401C>T	ExAC,gnomAD
RECQL5	O94762	p.Arg349Trp	rs534794509	missense variant	-	NC_000017.11:g.75658402G>A	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Ala350Thr	rs767828047	missense variant	-	NC_000017.11:g.75658399C>T	ExAC,gnomAD
RECQL5	O94762	p.Ala350Pro	rs767828047	missense variant	-	NC_000017.11:g.75658399C>G	ExAC,gnomAD
RECQL5	O94762	p.Arg352Lys	rs759645339	missense variant	-	NC_000017.11:g.75658392C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg352Thr	rs759645339	missense variant	-	NC_000017.11:g.75658392C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly354Val	COSM1563648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75658386C>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Pro356Ser	rs1477770536	missense variant	-	NC_000017.11:g.75658381G>A	TOPMed,gnomAD
RECQL5	O94762	p.Trp358Arg	rs1373564908	missense variant	-	NC_000017.11:g.75658375A>G	gnomAD
RECQL5	O94762	p.Arg360Cys	rs769730810	missense variant	-	NC_000017.11:g.75658369G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg360His	rs747890706	missense variant	-	NC_000017.11:g.75658368C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg360Cys	rs769730810	missense variant	-	NC_000017.11:g.75658369G>A	NCI-TCGA,NCI-TCGA Cosmic
RECQL5	O94762	p.Leu361Phe	rs1247198793	missense variant	-	NC_000017.11:g.75658366G>A	gnomAD
RECQL5	O94762	p.Tyr362Ser	rs768705080	missense variant	-	NC_000017.11:g.75658362T>G	ExAC,gnomAD
RECQL5	O94762	p.Tyr362Cys	rs768705080	missense variant	-	NC_000017.11:g.75658362T>C	ExAC,gnomAD
RECQL5	O94762	p.Tyr363Cys	rs1443817723	missense variant	-	NC_000017.11:g.75658359T>C	gnomAD
RECQL5	O94762	p.Arg368Trp	rs778479063	missense variant	-	NC_000017.11:g.75658345G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg368Gln	rs757624935	missense variant	-	NC_000017.11:g.75658344C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp369Glu	rs1297346366	missense variant	-	NC_000017.11:g.75658340G>C	gnomAD
RECQL5	O94762	p.Ser372Ile	rs1453597155	missense variant	-	NC_000017.11:g.75658332C>A	gnomAD
RECQL5	O94762	p.Ser372Gly	rs1252295505	missense variant	-	NC_000017.11:g.75658333T>C	TOPMed,gnomAD
RECQL5	O94762	p.Arg376Ser	rs764641891	missense variant	-	NC_000017.11:g.75658319C>A	ExAC,gnomAD
RECQL5	O94762	p.Arg376Gly	rs554407453	missense variant	-	NC_000017.11:g.75658321T>C	gnomAD
RECQL5	O94762	p.Lys377Asn	rs756591228	missense variant	-	NC_000017.11:g.75658316C>A	NCI-TCGA
RECQL5	O94762	p.Lys377Asn	rs756591228	missense variant	-	NC_000017.11:g.75658316C>A	ExAC,gnomAD
RECQL5	O94762	p.Glu384Gln	rs1485877406	missense variant	-	NC_000017.11:g.75651265C>G	TOPMed
RECQL5	O94762	p.Lys385Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75651262T>C	NCI-TCGA
RECQL5	O94762	p.Lys385Asn	rs1482477593	missense variant	-	NC_000017.11:g.75651260C>A	gnomAD
RECQL5	O94762	p.Arg386Lys	rs778605465	missense variant	-	NC_000017.11:g.75651258C>T	ExAC,gnomAD
RECQL5	O94762	p.Asp392Gly	rs756888974	missense variant	-	NC_000017.11:g.75651240T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys393Asn	rs938039888	missense variant	-	NC_000017.11:g.75651236T>G	TOPMed
RECQL5	O94762	p.Ala394Pro	rs749699930	missense variant	-	NC_000017.11:g.75651235C>G	ExAC,gnomAD
RECQL5	O94762	p.Thr395Ala	rs756459645	missense variant	-	NC_000017.11:g.75651232T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala398Gly	rs781678454	missense variant	-	NC_000017.11:g.75651222G>C	ExAC,gnomAD
RECQL5	O94762	p.Ala398Val	rs781678454	missense variant	-	NC_000017.11:g.75651222G>A	ExAC,gnomAD
RECQL5	O94762	p.Phe399Leu	rs755015591	missense variant	-	NC_000017.11:g.75651220A>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val403Leu	rs1350022379	missense variant	-	NC_000017.11:g.75651208C>G	TOPMed,gnomAD
RECQL5	O94762	p.Phe405Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75651200G>C	NCI-TCGA
RECQL5	O94762	p.Phe405Leu	COSM1480010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75651200G>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Gly410Trp	rs1347849780	missense variant	-	NC_000017.11:g.75651187C>A	TOPMed,gnomAD
RECQL5	O94762	p.Arg412His	rs765733002	missense variant	-	NC_000017.11:g.75631663C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg412Cys	rs750936583	missense variant	-	NC_000017.11:g.75631664G>A	ExAC,gnomAD
RECQL5	O94762	p.His413Tyr	rs1347610459	missense variant	-	NC_000017.11:g.75631661G>A	gnomAD
RECQL5	O94762	p.Ala415Thr	rs776670866	missense variant	-	NC_000017.11:g.75631655C>T	ExAC,gnomAD
RECQL5	O94762	p.Ala417Thr	rs1324717460	missense variant	-	NC_000017.11:g.75631649C>T	gnomAD
RECQL5	O94762	p.Lys418Glu	rs764418102	missense variant	-	NC_000017.11:g.75631646T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys418Arg	rs1396725975	missense variant	-	NC_000017.11:g.75631645T>C	gnomAD
RECQL5	O94762	p.Phe420Leu	rs192546084	missense variant	-	NC_000017.11:g.75631638G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe420Leu	rs760840118	missense variant	-	NC_000017.11:g.75631640A>G	ExAC,gnomAD
RECQL5	O94762	p.Gly421Val	rs1390584538	missense variant	-	NC_000017.11:g.75631636C>A	gnomAD
RECQL5	O94762	p.Gly421Arg	rs200877940	missense variant	-	NC_000017.11:g.75631637C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala423Glu	rs749023712	missense variant	-	NC_000017.11:g.75631630G>T	ExAC,gnomAD
RECQL5	O94762	p.Ala423Val	rs749023712	missense variant	-	NC_000017.11:g.75631630G>A	ExAC,gnomAD
RECQL5	O94762	p.Pro425Thr	rs1187628477	missense variant	-	NC_000017.11:g.75631625G>T	gnomAD
RECQL5	O94762	p.Cys427Tyr	rs780533278	missense variant	-	NC_000017.11:g.75631618C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala428Thr	rs201206387	missense variant	-	NC_000017.11:g.75631616C>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly430Asp	rs1465456766	missense variant	-	NC_000017.11:g.75631609C>T	TOPMed
RECQL5	O94762	p.Cys431Tyr	COSM4069609	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631606C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Cys431Arg	rs1274180688	missense variant	-	NC_000017.11:g.75631607A>G	gnomAD
RECQL5	O94762	p.Asp432Asn	rs371987831	missense variant	-	NC_000017.11:g.75631604C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.His433Arg	rs1408251786	missense variant	-	NC_000017.11:g.75631600T>C	TOPMed
RECQL5	O94762	p.Gln435Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75631595G>T	NCI-TCGA
RECQL5	O94762	p.Gln435Glu	rs1245604720	missense variant	-	NC_000017.11:g.75631595G>C	gnomAD
RECQL5	O94762	p.Thr438Met	rs539681330	missense variant	-	NC_000017.11:g.75631585G>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Thr438Ala	rs199937273	missense variant	-	NC_000017.11:g.75631586T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala439Thr	rs369338098	missense variant	-	NC_000017.11:g.75631583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val440Met	rs760749078	missense variant	-	NC_000017.11:g.75631580C>T	ExAC,gnomAD
RECQL5	O94762	p.Arg441Trp	rs371913117	missense variant	-	NC_000017.11:g.75631577G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg441Pro	rs561734427	missense variant	-	NC_000017.11:g.75631576C>G	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg441Gln	rs561734427	missense variant	-	NC_000017.11:g.75631576C>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg443Trp	rs368486497	missense variant	-	NC_000017.11:g.75631571G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg443Gln	rs202152201	missense variant	-	NC_000017.11:g.75631570C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu444Val	rs761869603	missense variant	-	NC_000017.11:g.75631568G>C	ExAC,gnomAD
RECQL5	O94762	p.Glu448Gln	rs768058549	missense variant	-	NC_000017.11:g.75631556C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg449Cys	rs746528413	missense variant	-	NC_000017.11:g.75631553G>A	ExAC,gnomAD
RECQL5	O94762	p.Arg449Pro	rs372347188	missense variant	-	NC_000017.11:g.75631552C>G	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg449Leu	rs372347188	missense variant	-	NC_000017.11:g.75631552C>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg449His	rs372347188	missense variant	-	NC_000017.11:g.75631552C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser450Gly	rs746275634	missense variant	-	NC_000017.11:g.75631550T>C	ExAC,gnomAD
RECQL5	O94762	p.Ser450Asn	COSM3692030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631549C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Ser452Asn	rs1291479590	missense variant	-	NC_000017.11:g.75631543C>T	gnomAD
RECQL5	O94762	p.Trp453Ter	rs1373954176	stop gained	-	NC_000017.11:g.75631540C>T	TOPMed,gnomAD
RECQL5	O94762	p.Trp453Arg	rs1232803733	missense variant	-	NC_000017.11:g.75631541A>G	gnomAD
RECQL5	O94762	p.Thr456Ser	rs757571808	missense variant	-	NC_000017.11:g.75631532T>A	ExAC
RECQL5	O94762	p.Ile458Thr	rs754317656	missense variant	-	NC_000017.11:g.75631525A>G	ExAC,gnomAD
RECQL5	O94762	p.Gly459Trp	rs752804710	missense variant	-	NC_000017.11:g.75631523C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly459Arg	rs752804710	missense variant	-	NC_000017.11:g.75631523C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly459Glu	rs868819468	missense variant	-	NC_000017.11:g.75631522C>T	TOPMed,gnomAD
RECQL5	O94762	p.Gln462Glu	rs917922038	missense variant	-	NC_000017.11:g.75631514G>C	TOPMed
RECQL5	O94762	p.Gln462His	rs1401250427	missense variant	-	NC_000017.11:g.75631512C>G	gnomAD
RECQL5	O94762	p.Gln462Ter	rs917922038	stop gained	-	NC_000017.11:g.75631514G>A	TOPMed
RECQL5	O94762	p.Gln462Arg	rs1175237184	missense variant	-	NC_000017.11:g.75631513T>C	TOPMed,gnomAD
RECQL5	O94762	p.Asn464Lys	rs747152535	missense variant	-	NC_000017.11:g.75631506G>T	gnomAD
RECQL5	O94762	p.Gly465Ser	rs759800749	missense variant	-	NC_000017.11:g.75631505C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp467Glu	rs367690981	missense variant	-	NC_000017.11:g.75631497G>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp467Ala	rs751790460	missense variant	-	NC_000017.11:g.75631498T>G	ExAC,gnomAD
RECQL5	O94762	p.Pro468Ser	rs761636295	missense variant	-	NC_000017.11:g.75631496G>A	ExAC,gnomAD
RECQL5	O94762	p.Pro468Leu	rs959410822	missense variant	-	NC_000017.11:g.75631495G>A	gnomAD
RECQL5	O94762	p.Glu469Ter	rs760152507	stop gained	-	NC_000017.11:g.75631493C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu469Lys	rs760152507	missense variant	-	NC_000017.11:g.75631493C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu470Pro	rs1271570917	missense variant	-	NC_000017.11:g.75631489A>G	gnomAD
RECQL5	O94762	p.Tyr471Cys	rs545985307	missense variant	-	NC_000017.11:g.75631486T>C	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Glu472Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75631483T>G	NCI-TCGA
RECQL5	O94762	p.Glu472Asp	rs778482757	missense variant	-	NC_000017.11:g.75631482C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu472Lys	rs745544661	missense variant	-	NC_000017.11:g.75631484C>T	ExAC
RECQL5	O94762	p.Gly473Ala	rs1326260732	missense variant	-	NC_000017.11:g.75631480C>G	TOPMed
RECQL5	O94762	p.Gly474Asp	rs771287576	missense variant	-	NC_000017.11:g.75631477C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg475Cys	rs370397932	missense variant	-	NC_000017.11:g.75631475G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg475Leu	rs778197565	missense variant	-	NC_000017.11:g.75631474C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg475His	rs778197565	missense variant	-	NC_000017.11:g.75631474C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly477Asp	rs1442890317	missense variant	-	NC_000017.11:g.75631468C>T	gnomAD
RECQL5	O94762	p.Tyr478Ter	rs752759372	stop gained	-	NC_000017.11:g.75631464G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Tyr478Phe	rs756618668	missense variant	-	NC_000017.11:g.75631465T>A	ExAC,gnomAD
RECQL5	O94762	p.Gly479Arg	rs781452311	missense variant	-	NC_000017.11:g.75631463C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly479Glu	rs755059039	missense variant	-	NC_000017.11:g.75631462C>T	ExAC,gnomAD
RECQL5	O94762	p.Asp480His	rs751843297	missense variant	-	NC_000017.11:g.75631460C>G	ExAC,gnomAD
RECQL5	O94762	p.Asp480Gly	rs820196	missense variant	-	NC_000017.11:g.75631459T>C	UniProt,dbSNP
RECQL5	O94762	p.Asp480Gly	VAR_024272	missense variant	-	NC_000017.11:g.75631459T>C	UniProt
RECQL5	O94762	p.Asp480Gly	rs820196	missense variant	-	NC_000017.11:g.75631459T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp480Val	rs820196	missense variant	-	NC_000017.11:g.75631459T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe481Ile	rs753645586	missense variant	-	NC_000017.11:g.75631457A>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp485Gly	rs1293083582	missense variant	-	NC_000017.11:g.75631244T>C	gnomAD
RECQL5	O94762	p.Glu486Lys	rs772691086	missense variant	-	NC_000017.11:g.75631242C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly487Ser	rs199924706	missense variant	-	NC_000017.11:g.75631239C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser488Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75631235G>A	NCI-TCGA
RECQL5	O94762	p.Gly490Val	rs756694533	missense variant	-	NC_000017.11:g.75631229C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly490Asp	rs756694533	missense variant	-	NC_000017.11:g.75631229C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser491Ile	rs777336988	missense variant	-	NC_000017.11:g.75631226C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser491Asn	rs777336988	missense variant	-	NC_000017.11:g.75631226C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly492Arg	rs371629061	missense variant	-	NC_000017.11:g.75631224C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly492Arg	rs371629061	missense variant	-	NC_000017.11:g.75631224C>G	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly495Asp	rs1462866613	missense variant	-	NC_000017.11:g.75631214C>T	gnomAD
RECQL5	O94762	p.Arg496Ser	rs1356486722	missense variant	-	NC_000017.11:g.75631210T>A	gnomAD
RECQL5	O94762	p.Arg496Lys	rs1201840146	missense variant	-	NC_000017.11:g.75631211C>T	TOPMed
RECQL5	O94762	p.Glu498Lys	rs780312105	missense variant	-	NC_000017.11:g.75631206C>T	ExAC,gnomAD
RECQL5	O94762	p.Ala499Thr	rs758365826	missense variant	-	NC_000017.11:g.75631203C>T	ExAC,gnomAD
RECQL5	O94762	p.Ala499Val	rs746119701	missense variant	-	NC_000017.11:g.75631202G>A	ExAC,gnomAD
RECQL5	O94762	p.Lys501Arg	rs1189927914	missense variant	-	NC_000017.11:g.75631196T>C	gnomAD
RECQL5	O94762	p.Arg502Gln	rs200732170	missense variant	-	NC_000017.11:g.75631193C>T	ESP,TOPMed,gnomAD
RECQL5	O94762	p.Glu503Gln	COSM1470952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631191C>G	NCI-TCGA Cosmic
RECQL5	O94762	p.Glu503Gly	rs1474172874	missense variant	-	NC_000017.11:g.75631190T>C	gnomAD
RECQL5	O94762	p.Asn505Tyr	rs778939229	missense variant	-	NC_000017.11:g.75631185T>A	ExAC,gnomAD
RECQL5	O94762	p.Asn505Lys	rs756007035	missense variant	-	NC_000017.11:g.75631183G>T	ExAC,gnomAD
RECQL5	O94762	p.Asn505Asp	rs778939229	missense variant	-	NC_000017.11:g.75631185T>C	ExAC,gnomAD
RECQL5	O94762	p.Leu506His	rs752474003	missense variant	-	NC_000017.11:g.75631181A>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe507Leu	rs754875341	missense variant	-	NC_000017.11:g.75631179A>G	ExAC,gnomAD
RECQL5	O94762	p.Phe507Ser	rs1476573506	missense variant	-	NC_000017.11:g.75631178A>G	TOPMed
RECQL5	O94762	p.Gln509Arg	rs1168861745	missense variant	-	NC_000017.11:g.75631172T>C	TOPMed
RECQL5	O94762	p.Met512Leu	rs751455046	missense variant	-	NC_000017.11:g.75631164T>G	ExAC,gnomAD
RECQL5	O94762	p.Met512Ile	rs201834853	missense variant	-	NC_000017.11:g.75631162C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gln513Pro	rs762312156	missense variant	-	NC_000017.11:g.75631160T>G	ExAC,gnomAD
RECQL5	O94762	p.Gln513Ter	rs1296301537	stop gained	-	NC_000017.11:g.75631161G>A	TOPMed,gnomAD
RECQL5	O94762	p.Leu514Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75631157A>G	NCI-TCGA
RECQL5	O94762	p.Leu514Arg	rs1395556886	missense variant	-	NC_000017.11:g.75631157A>C	gnomAD
RECQL5	O94762	p.Arg515His	rs762318934	missense variant	-	NC_000017.11:g.75631154C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg515Leu	rs762318934	missense variant	-	NC_000017.11:g.75631154C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg515Cys	rs375117491	missense variant	-	NC_000017.11:g.75631155G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly517Asp	rs200763829	missense variant	-	NC_000017.11:g.75631009C>T	TOPMed,gnomAD
RECQL5	O94762	p.Gly517Ser	COSM3522196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631010C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Lys518Asn	rs777914006	missense variant	-	NC_000017.11:g.75631005T>G	ExAC,gnomAD
RECQL5	O94762	p.Lys518Ter	rs1319045378	stop gained	-	NC_000017.11:g.75631007T>A	gnomAD
RECQL5	O94762	p.Asp519Tyr	COSM4870560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75631004C>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Pro520Thr	rs768443508	missense variant	-	NC_000017.11:g.75631001G>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile522Thr	rs1489948307	missense variant	-	NC_000017.11:g.75630994A>G	TOPMed
RECQL5	O94762	p.Ile522Val	rs780090122	missense variant	-	NC_000017.11:g.75630995T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile522Lys	COSM6082045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75630994A>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Glu524Ala	rs758239335	missense variant	-	NC_000017.11:g.75630988T>G	ExAC,gnomAD
RECQL5	O94762	p.Phe525Leu	rs745778533	missense variant	-	NC_000017.11:g.75630984A>T	ExAC,gnomAD
RECQL5	O94762	p.Val526Ile	rs765692918	missense variant	-	NC_000017.11:g.75630983C>T	TOPMed,gnomAD
RECQL5	O94762	p.Val526Leu	rs765692918	missense variant	-	NC_000017.11:g.75630983C>A	TOPMed,gnomAD
RECQL5	O94762	p.Val526Ala	rs778309776	missense variant	-	NC_000017.11:g.75630982A>G	ExAC,gnomAD
RECQL5	O94762	p.Pro527Ala	rs763837183	missense variant	-	NC_000017.11:g.75630980G>C	ExAC,gnomAD
RECQL5	O94762	p.Leu534Pro	rs1472644658	missense variant	-	NC_000017.11:g.75630822A>G	gnomAD
RECQL5	O94762	p.LysGluAlaSerSerArg535LysGluAlaSerSerArgGlyPheTerGlnUnk	rs1303408910	stop gained	-	NC_000017.11:g.75630818_75630819insGCTAGAAGCCTCT	TOPMed,gnomAD
RECQL5	O94762	p.Ala537Val	COSM4866708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75630813G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Ala537Ser	rs1233845831	missense variant	-	NC_000017.11:g.75630814C>A	gnomAD
RECQL5	O94762	p.Ser539Cys	rs1456592740	missense variant	-	NC_000017.11:g.75630808T>A	gnomAD
RECQL5	O94762	p.Pro543Ala	rs1179034886	missense variant	-	NC_000017.11:g.75630796G>C	TOPMed
RECQL5	O94762	p.Arg544Lys	rs372856742	missense variant	-	NC_000017.11:g.75630792C>T	ESP,TOPMed,gnomAD
RECQL5	O94762	p.Arg544Met	rs372856742	missense variant	-	NC_000017.11:g.75630792C>A	ESP,TOPMed,gnomAD
RECQL5	O94762	p.Leu545Pro	rs1047595064	missense variant	-	NC_000017.11:g.75630789A>G	TOPMed
RECQL5	O94762	p.Val547Met	rs761886785	missense variant	-	NC_000017.11:g.75630784C>T	ExAC,gnomAD
RECQL5	O94762	p.Val547Leu	rs761886785	missense variant	-	NC_000017.11:g.75630784C>G	ExAC,gnomAD
RECQL5	O94762	p.Ala549Gly	rs1300246169	missense variant	-	NC_000017.11:g.75630691G>C	gnomAD
RECQL5	O94762	p.Arg550Trp	rs746220717	missense variant	-	NC_000017.11:g.75630689G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg550Gln	rs779340422	missense variant	-	NC_000017.11:g.75630688C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.His552Arg	rs1280603833	missense variant	-	NC_000017.11:g.75630682T>C	gnomAD
RECQL5	O94762	p.Cys553Tyr	rs1398659180	missense variant	-	NC_000017.11:g.75630679C>T	gnomAD
RECQL5	O94762	p.Arg555Gln	rs538670883	missense variant	-	NC_000017.11:g.75630673C>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg555Trp	rs757755394	missense variant	-	NC_000017.11:g.75630674G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu556Ile	COSM293211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75630671G>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Leu557Pro	rs1357572992	missense variant	-	NC_000017.11:g.75630667A>G	TOPMed,gnomAD
RECQL5	O94762	p.Glu558Val	rs951900043	missense variant	-	NC_000017.11:g.75630664T>A	gnomAD
RECQL5	O94762	p.Glu558Gly	rs951900043	missense variant	-	NC_000017.11:g.75630664T>C	gnomAD
RECQL5	O94762	p.Ala560Val	rs752969417	missense variant	-	NC_000017.11:g.75630658G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu561Arg	rs1191652481	missense variant	-	NC_000017.11:g.75630655A>C	gnomAD
RECQL5	O94762	p.Ser562Thr	rs1177989475	missense variant	-	NC_000017.11:g.75630652C>G	TOPMed
RECQL5	O94762	p.Asn564His	rs1402458870	missense variant	-	NC_000017.11:g.75630647T>G	TOPMed
RECQL5	O94762	p.Arg565His	rs750219422	missense variant	-	NC_000017.11:g.75630643C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gln566Lys	rs765126212	missense variant	-	NC_000017.11:g.75630641G>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg569Cys	rs776375606	missense variant	-	NC_000017.11:g.75630632G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg569Gly	rs776375606	missense variant	-	NC_000017.11:g.75630632G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg569His	rs368304075	missense variant	-	NC_000017.11:g.75630631C>T	ESP,ExAC,gnomAD
RECQL5	O94762	p.Thr570Asn	rs760175418	missense variant	-	NC_000017.11:g.75630628G>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Thr570Ile	rs760175418	missense variant	-	NC_000017.11:g.75630628G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala571Thr	rs771692549	missense variant	-	NC_000017.11:g.75630626C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala571Ser	rs771692549	missense variant	-	NC_000017.11:g.75630626C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp572Asn	rs993293271	missense variant	-	NC_000017.11:g.75630623C>T	TOPMed
RECQL5	O94762	p.Glu573Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75630277T>G	NCI-TCGA
RECQL5	O94762	p.Glu573Val	rs1340442661	missense variant	-	NC_000017.11:g.75630619T>A	gnomAD
RECQL5	O94762	p.Glu573Lys	COSM3522195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75630620C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Ala574Thr	rs1265440218	missense variant	-	NC_000017.11:g.75630276C>T	gnomAD
RECQL5	O94762	p.Ala574Gly	rs1240124291	missense variant	-	NC_000017.11:g.75630275G>C	TOPMed,gnomAD
RECQL5	O94762	p.Ala574Val	rs1240124291	missense variant	-	NC_000017.11:g.75630275G>A	TOPMed,gnomAD
RECQL5	O94762	p.Asp575Asn	rs763219972	missense variant	-	NC_000017.11:g.75630273C>T	ExAC,gnomAD
RECQL5	O94762	p.Asp575Tyr	rs763219972	missense variant	-	NC_000017.11:g.75630273C>A	ExAC,gnomAD
RECQL5	O94762	p.Leu576Ile	rs1307289759	missense variant	-	NC_000017.11:g.75630270G>T	gnomAD
RECQL5	O94762	p.Arg577Gln	rs199975622	missense variant	-	NC_000017.11:g.75630266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg577Trp	rs773824180	missense variant	-	NC_000017.11:g.75630267G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala578Thr	rs1303482797	missense variant	-	NC_000017.11:g.75630264C>T	gnomAD
RECQL5	O94762	p.Lys579Asn	rs1389838540	missense variant	-	NC_000017.11:g.75630259C>G	gnomAD
RECQL5	O94762	p.Lys579Thr	rs1385228409	missense variant	-	NC_000017.11:g.75630260T>G	gnomAD
RECQL5	O94762	p.Ala580Thr	rs1289385479	missense variant	-	NC_000017.11:g.75630258C>T	gnomAD
RECQL5	O94762	p.Val581Met	rs201838121	missense variant	-	NC_000017.11:g.75630255C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu582Asp	rs867332791	missense variant	-	NC_000017.11:g.75630250C>A	gnomAD
RECQL5	O94762	p.Leu583Val	rs768807130	missense variant	-	NC_000017.11:g.75630249G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu584Lys	rs1033027666	missense variant	-	NC_000017.11:g.75630246C>T	TOPMed
RECQL5	O94762	p.His585Arg	rs541672011	missense variant	-	NC_000017.11:g.75630242T>C	1000Genomes,TOPMed,gnomAD
RECQL5	O94762	p.Glu586Asp	rs1196131415	missense variant	-	NC_000017.11:g.75630238C>G	TOPMed,gnomAD
RECQL5	O94762	p.Thr587Ile	rs1432098292	missense variant	-	NC_000017.11:g.75630236G>A	gnomAD
RECQL5	O94762	p.Phe588Leu	rs867557060	missense variant	-	NC_000017.11:g.75630232G>T	gnomAD
RECQL5	O94762	p.Phe588Leu	rs376329051	missense variant	-	NC_000017.11:g.75630234A>G	ESP
RECQL5	O94762	p.Arg589Gln	rs757135549	missense variant	-	NC_000017.11:g.75630230C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg589Trp	rs780135537	missense variant	-	NC_000017.11:g.75630231G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asn590Thr	rs1490184759	missense variant	-	NC_000017.11:g.75630227T>G	TOPMed
RECQL5	O94762	p.Ala591Thr	rs753556734	missense variant	-	NC_000017.11:g.75630225C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala594Val	rs868116990	missense variant	-	NC_000017.11:g.75630215G>A	gnomAD
RECQL5	O94762	p.Ala594Thr	rs1287298043	missense variant	-	NC_000017.11:g.75630216C>T	TOPMed,gnomAD
RECQL5	O94762	p.Ala594Asp	rs868116990	missense variant	-	NC_000017.11:g.75630215G>T	gnomAD
RECQL5	O94762	p.Asn595Ser	rs756081090	missense variant	-	NC_000017.11:g.75630212T>C	ExAC,gnomAD
RECQL5	O94762	p.Asn595Asp	rs373371319	missense variant	-	NC_000017.11:g.75630213T>C	ESP,TOPMed,gnomAD
RECQL5	O94762	p.Leu596His	rs1363439135	missense variant	-	NC_000017.11:g.75630209A>T	TOPMed
RECQL5	O94762	p.Ala599Val	rs754181243	missense variant	-	NC_000017.11:g.75630200G>A	gnomAD
RECQL5	O94762	p.Ala599Asp	rs754181243	missense variant	-	NC_000017.11:g.75630200G>T	gnomAD
RECQL5	O94762	p.Val601Met	rs773370158	missense variant	-	NC_000017.11:g.75630195C>T	TOPMed,gnomAD
RECQL5	O94762	p.Lys604Asn	rs1195273903	missense variant	-	NC_000017.11:g.75630184C>G	gnomAD
RECQL5	O94762	p.Val605Met	rs545767779	missense variant	-	NC_000017.11:g.75629842C>T	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Val605Gly	rs762543250	missense variant	-	NC_000017.11:g.75629841A>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp607Asn	rs921759641	missense variant	-	NC_000017.11:g.75629836C>T	TOPMed,gnomAD
RECQL5	O94762	p.Asp607Glu	rs765709208	missense variant	-	NC_000017.11:g.75629834A>C	ExAC,gnomAD
RECQL5	O94762	p.Ile608Thr	rs1326039650	missense variant	-	NC_000017.11:g.75629832A>G	TOPMed,gnomAD
RECQL5	O94762	p.His609Arg	rs762265679	missense variant	-	NC_000017.11:g.75629829T>C	ExAC,gnomAD
RECQL5	O94762	p.His609Tyr	rs1406435366	missense variant	-	NC_000017.11:g.75629830G>A	gnomAD
RECQL5	O94762	p.Ala611Val	rs532494160	missense variant	-	NC_000017.11:g.75629823G>A	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Ser612Phe	rs760851276	missense variant	-	NC_000017.11:g.75629820G>A	ExAC,gnomAD
RECQL5	O94762	p.Ser612Cys	rs760851276	missense variant	-	NC_000017.11:g.75629820G>C	ExAC,gnomAD
RECQL5	O94762	p.Lys613Glu	rs775466364	missense variant	-	NC_000017.11:g.75629818T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys613Gln	rs775466364	missense variant	-	NC_000017.11:g.75629818T>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp614Asn	rs1456469911	missense variant	-	NC_000017.11:g.75629815C>T	TOPMed,gnomAD
RECQL5	O94762	p.Asp614Gly	rs1237608682	missense variant	-	NC_000017.11:g.75629814T>C	gnomAD
RECQL5	O94762	p.Gly615Glu	rs1267293968	missense variant	-	NC_000017.11:g.75629811C>T	gnomAD
RECQL5	O94762	p.Gly615Arg	rs1222468833	missense variant	-	NC_000017.11:g.75629812C>T	gnomAD
RECQL5	O94762	p.Gln616Ter	rs1014686447	stop gained	-	NC_000017.11:g.75629809G>A	TOPMed
RECQL5	O94762	p.Pro617Ser	rs1276768189	missense variant	-	NC_000017.11:g.75629806G>A	TOPMed
RECQL5	O94762	p.Tyr618Cys	rs947248832	missense variant	-	NC_000017.11:g.75629802T>C	TOPMed,gnomAD
RECQL5	O94762	p.Met620Ile	rs1287646427	missense variant	-	NC_000017.11:g.75629795C>T	gnomAD
RECQL5	O94762	p.Ser623Asn	rs746094436	missense variant	-	NC_000017.11:g.75629787C>T	ExAC,gnomAD
RECQL5	O94762	p.Ala624Pro	rs1310943107	missense variant	-	NC_000017.11:g.75629785C>G	gnomAD
RECQL5	O94762	p.Lys625Asn	rs1281852689	missense variant	-	NC_000017.11:g.75629780C>G	TOPMed,gnomAD
RECQL5	O94762	p.Ser628Asn	rs35566780	missense variant	-	NC_000017.11:g.75629772C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser628Asn	rs35566780	missense variant	-	NC_000017.11:g.75629772C>T	UniProt,dbSNP
RECQL5	O94762	p.Ser628Asn	VAR_051733	missense variant	-	NC_000017.11:g.75629772C>T	UniProt
RECQL5	O94762	p.Ala629Ser	rs747922592	missense variant	-	NC_000017.11:g.75629770C>A	ExAC,gnomAD
RECQL5	O94762	p.Glu632Lys	rs1352060084	missense variant	-	NC_000017.11:g.75629761C>T	gnomAD
RECQL5	O94762	p.Pro633Arg	rs1200395286	missense variant	-	NC_000017.11:g.75629757G>C	TOPMed
RECQL5	O94762	p.Pro634Leu	rs754838947	missense variant	-	NC_000017.11:g.75629754G>A	ExAC,gnomAD
RECQL5	O94762	p.Glu635Gly	rs757867539	missense variant	-	NC_000017.11:g.75629751T>C	ExAC,gnomAD
RECQL5	O94762	p.Glu635Lys	rs779451535	missense variant	-	NC_000017.11:g.75629752C>T	ExAC,gnomAD
RECQL5	O94762	p.Glu635Asp	rs750168254	missense variant	-	NC_000017.11:g.75629750C>A	ExAC,gnomAD
RECQL5	O94762	p.Asn637Lys	rs757746264	missense variant	-	NC_000017.11:g.75629744A>T	ExAC,gnomAD
RECQL5	O94762	p.Asn637Ser	rs199545184	missense variant	-	NC_000017.11:g.75629745T>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu638Asp	rs754226222	missense variant	-	NC_000017.11:g.75629741C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu638Ter	rs1198110296	stop gained	-	NC_000017.11:g.75629743C>A	gnomAD
RECQL5	O94762	p.Glu638Asp	rs754226222	missense variant	-	NC_000017.11:g.75629741C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Tyr639Cys	rs1287863020	missense variant	-	NC_000017.11:g.75629739T>C	gnomAD
RECQL5	O94762	p.Asp640Gly	rs1214248934	missense variant	-	NC_000017.11:g.75629736T>C	gnomAD
RECQL5	O94762	p.Ile641Val	rs374663232	missense variant	-	NC_000017.11:g.75629734T>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro642Ala	rs1162774995	missense variant	-	NC_000017.11:g.75629731G>C	TOPMed
RECQL5	O94762	p.Pro643Ser	COSM1480009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629728G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.His646Tyr	rs1324632786	missense variant	-	NC_000017.11:g.75629719G>A	gnomAD
RECQL5	O94762	p.His646Leu	rs761112356	missense variant	-	NC_000017.11:g.75629718T>A	ExAC,gnomAD
RECQL5	O94762	p.Val647Ala	rs767503954	missense variant	-	NC_000017.11:g.75629715A>G	ExAC,gnomAD
RECQL5	O94762	p.Tyr648Ter	rs759603217	stop gained	-	NC_000017.11:g.75629711G>C	ExAC,gnomAD
RECQL5	O94762	p.Tyr648Ser	rs1385143221	missense variant	-	NC_000017.11:g.75629712T>G	TOPMed
RECQL5	O94762	p.Ser649Ter	rs774610615	stop gained	-	NC_000017.11:g.75629709G>T	ExAC,gnomAD
RECQL5	O94762	p.Ser649Leu	rs774610615	missense variant	-	NC_000017.11:g.75629709G>A	ExAC,gnomAD
RECQL5	O94762	p.Arg654Trp	rs77417209	missense variant	-	NC_000017.11:g.75629463G>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg654Pro	rs376193547	missense variant	-	NC_000017.11:g.75629462C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg654Gln	rs376193547	missense variant	-	NC_000017.11:g.75629462C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly658Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75629450C>A	NCI-TCGA
RECQL5	O94762	p.Phe659Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75629448A>T	NCI-TCGA
RECQL5	O94762	p.Phe659Ser	rs1360413953	missense variant	-	NC_000017.11:g.75629447A>G	TOPMed
RECQL5	O94762	p.Gly662Val	rs533692268	missense variant	-	NC_000017.11:g.75629438C>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Cys664Ser	rs1008681987	missense variant	-	NC_000017.11:g.75629433A>T	TOPMed
RECQL5	O94762	p.Pro665Gln	rs201916143	missense variant	-	NC_000017.11:g.75629429G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro665Leu	rs201916143	missense variant	-	NC_000017.11:g.75629429G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe666Leu	rs760506804	missense variant	-	NC_000017.11:g.75629427A>G	ExAC,gnomAD
RECQL5	O94762	p.Phe666Leu	rs775339803	missense variant	-	NC_000017.11:g.75629425G>T	ExAC,gnomAD
RECQL5	O94762	p.Thr668Met	rs369666779	missense variant	-	NC_000017.11:g.75629420G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala669Thr	rs778590962	missense variant	-	NC_000017.11:g.75629418C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala669Val	rs1458729785	missense variant	-	NC_000017.11:g.75629417G>A	gnomAD
RECQL5	O94762	p.Thr670Met	rs770510555	missense variant	-	NC_000017.11:g.75629414G>A	ExAC,gnomAD
RECQL5	O94762	p.Leu672Val	rs756488718	missense variant	-	NC_000017.11:g.75629409G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu672Met	rs756488718	missense variant	-	NC_000017.11:g.75629409G>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Met673Thr	rs900284001	missense variant	-	NC_000017.11:g.75629405A>G	gnomAD
RECQL5	O94762	p.Met673Val	rs1287280559	missense variant	-	NC_000017.11:g.75629406T>C	gnomAD
RECQL5	O94762	p.Met673Ile	rs1313863377	missense variant	-	NC_000017.11:g.75629404C>T	gnomAD
RECQL5	O94762	p.Glu674Val	rs1377168709	missense variant	-	NC_000017.11:g.75629402T>A	gnomAD
RECQL5	O94762	p.Glu674Gln	rs753080478	missense variant	-	NC_000017.11:g.75629403C>G	ExAC,gnomAD
RECQL5	O94762	p.Thr675Ile	rs781586764	missense variant	-	NC_000017.11:g.75629399G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Thr676Ile	rs931627087	missense variant	-	NC_000017.11:g.75629396G>A	TOPMed
RECQL5	O94762	p.Arg677Gly	rs538753860	missense variant	-	NC_000017.11:g.75629394G>C	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg677Trp	rs538753860	missense variant	-	NC_000017.11:g.75629394G>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg677Gln	rs766459582	missense variant	-	NC_000017.11:g.75629393C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile678Val	rs762953179	missense variant	-	NC_000017.11:g.75629391T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile678Phe	rs762953179	missense variant	-	NC_000017.11:g.75629391T>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg679Gly	rs1166645835	missense variant	-	NC_000017.11:g.75629388T>C	gnomAD
RECQL5	O94762	p.Ala682Val	rs1178900510	missense variant	-	NC_000017.11:g.75629378G>A	TOPMed,gnomAD
RECQL5	O94762	p.Ala682Thr	rs750677184	missense variant	-	NC_000017.11:g.75629379C>T	ExAC,gnomAD
RECQL5	O94762	p.Pro683Arg	rs765475986	missense variant	-	NC_000017.11:g.75629375G>C	ExAC,gnomAD
RECQL5	O94762	p.Glu686Lys	rs775388274	missense variant	-	NC_000017.11:g.75629367C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu686Gln	rs775388274	missense variant	-	NC_000017.11:g.75629367C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg687Trp	rs373451755	missense variant	-	NC_000017.11:g.75629364G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg687Pro	rs34941411	missense variant	-	NC_000017.11:g.75629363C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg687Gln	rs34941411	missense variant	-	NC_000017.11:g.75629363C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly689Val	rs748813871	missense variant	-	NC_000017.11:g.75629357C>A	ExAC
RECQL5	O94762	p.Gly689Cys	rs770636896	missense variant	-	NC_000017.11:g.75629358C>A	ExAC
RECQL5	O94762	p.Glu690Lys	rs769454042	missense variant	-	NC_000017.11:g.75629355C>T	ExAC,gnomAD
RECQL5	O94762	p.Glu690Ala	rs1308112096	missense variant	-	NC_000017.11:g.75629354T>G	TOPMed
RECQL5	O94762	p.His691Arg	rs747712708	missense variant	-	NC_000017.11:g.75629351T>C	ExAC
RECQL5	O94762	p.His691Leu	rs747712708	missense variant	-	NC_000017.11:g.75629351T>A	ExAC
RECQL5	O94762	p.His691Gln	rs4788902	missense variant	-	NC_000017.11:g.75629350G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu692Asp	rs780534135	missense variant	-	NC_000017.11:g.75629347C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu692Lys	rs567932731	missense variant	-	NC_000017.11:g.75629349C>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro693Ser	rs750485039	missense variant	-	NC_000017.11:g.75629346G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro693Thr	rs750485039	missense variant	-	NC_000017.11:g.75629346G>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro694Ala	rs1263807814	missense variant	-	NC_000017.11:g.75629343G>C	TOPMed
RECQL5	O94762	p.Pro694Ser	COSM1223492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629343G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Pro694Leu	rs199608835	missense variant	-	NC_000017.11:g.75629342G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro694Gln	rs199608835	missense variant	-	NC_000017.11:g.75629342G>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg696Trp	rs376208710	missense variant	-	NC_000017.11:g.75629337G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg696Pro	rs1456160196	missense variant	-	NC_000017.11:g.75629336C>G	gnomAD
RECQL5	O94762	p.Pro697Ser	COSM3421907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629334G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Cys698Phe	rs1159076259	missense variant	-	NC_000017.11:g.75629330C>A	gnomAD
RECQL5	O94762	p.Leu700Phe	rs940208657	missense variant	-	NC_000017.11:g.75629325G>A	gnomAD
RECQL5	O94762	p.Leu700Val	rs940208657	missense variant	-	NC_000017.11:g.75629325G>C	gnomAD
RECQL5	O94762	p.Glu703Lys	rs767427530	missense variant	-	NC_000017.11:g.75629316C>T	ExAC,gnomAD
RECQL5	O94762	p.Glu703Asp	COSM984396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629314C>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Asp704Gly	rs759405070	missense variant	-	NC_000017.11:g.75629312T>C	ExAC,gnomAD
RECQL5	O94762	p.Gly705Arg	rs774491806	missense variant	-	NC_000017.11:g.75629310C>T	ExAC,gnomAD
RECQL5	O94762	p.Glu707Ter	rs766393153	stop gained	-	NC_000017.11:g.75629304C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro710Leu	rs1487816663	missense variant	-	NC_000017.11:g.75629294G>A	gnomAD
RECQL5	O94762	p.Pro712Ser	rs1423787253	missense variant	-	NC_000017.11:g.75629289G>A	TOPMed
RECQL5	O94762	p.Gly714Arg	rs772806922	missense variant	-	NC_000017.11:g.75629283C>T	ExAC,gnomAD
RECQL5	O94762	p.Gly714Arg	rs772806922	missense variant	-	NC_000017.11:g.75629283C>G	ExAC,gnomAD
RECQL5	O94762	p.Val716Ile	rs374104768	missense variant	-	NC_000017.11:g.75629277C>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly719Ser	COSM3522193	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629268C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Ala721Val	rs1344864453	missense variant	-	NC_000017.11:g.75629261G>A	gnomAD
RECQL5	O94762	p.Ala721Thr	rs199621884	missense variant	-	NC_000017.11:g.75629262C>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.His722Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75629259G>A	NCI-TCGA
RECQL5	O94762	p.His722Asp	rs955689445	missense variant	-	NC_000017.11:g.75629259G>C	gnomAD
RECQL5	O94762	p.His722Arg	rs1401619920	missense variant	-	NC_000017.11:g.75629258T>C	gnomAD
RECQL5	O94762	p.Tyr723Asn	rs375303889	missense variant	-	NC_000017.11:g.75629256A>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Tyr723Cys	rs545666836	missense variant	-	NC_000017.11:g.75629255T>C	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Gly724Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75629252C>T	NCI-TCGA
RECQL5	O94762	p.Gly724Ala	rs890230635	missense variant	-	NC_000017.11:g.75629252C>G	TOPMed,gnomAD
RECQL5	O94762	p.Gly725Arg	rs1029132514	missense variant	-	NC_000017.11:g.75629250C>T	TOPMed
RECQL5	O94762	p.Pro726Thr	rs746313066	missense variant	-	NC_000017.11:g.75629247G>T	ExAC,gnomAD
RECQL5	O94762	p.Ser727ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.75629248C>-	NCI-TCGA
RECQL5	O94762	p.Pro728Leu	COSM3522192	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629240G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Pro728Ser	rs1173408897	missense variant	-	NC_000017.11:g.75629241G>A	gnomAD
RECQL5	O94762	p.Glu729Gln	rs779066346	missense variant	-	NC_000017.11:g.75629238C>G	ExAC,gnomAD
RECQL5	O94762	p.Lys730Glu	rs201026890	missense variant	-	NC_000017.11:g.75629235T>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys730Ter	rs201026890	stop gained	-	NC_000017.11:g.75629235T>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys731Asn	rs904222202	missense variant	-	NC_000017.11:g.75629230C>G	TOPMed,gnomAD
RECQL5	O94762	p.Lys731Thr	rs1261250743	missense variant	-	NC_000017.11:g.75629231T>G	gnomAD
RECQL5	O94762	p.Lys731Glu	rs1489484340	missense variant	-	NC_000017.11:g.75629232T>C	gnomAD
RECQL5	O94762	p.Lys733Glu	rs1257819452	missense variant	-	NC_000017.11:g.75629226T>C	gnomAD
RECQL5	O94762	p.Lys733Arg	rs1456663690	missense variant	-	NC_000017.11:g.75629225T>C	TOPMed
RECQL5	O94762	p.Ser734Arg	rs764401571	missense variant	-	NC_000017.11:g.75629221A>T	ExAC,gnomAD
RECQL5	O94762	p.Ser735Phe	rs964714385	missense variant	-	NC_000017.11:g.75629219G>A	TOPMed,gnomAD
RECQL5	O94762	p.Ser736Phe	rs1278776334	missense variant	-	NC_000017.11:g.75629216G>A	gnomAD
RECQL5	O94762	p.Gly738Asp	rs562639261	missense variant	-	NC_000017.11:g.75629210C>T	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Gly738Val	rs562639261	missense variant	-	NC_000017.11:g.75629210C>A	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Ser739Gly	rs751364769	missense variant	-	NC_000017.11:g.75629208T>C	ExAC,gnomAD
RECQL5	O94762	p.Ser739Asn	rs766233710	missense variant	-	NC_000017.11:g.75629207C>T	ExAC,gnomAD
RECQL5	O94762	p.Ser740Cys	rs573582809	missense variant	-	NC_000017.11:g.75629204G>C	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser740Phe	rs573582809	missense variant	-	NC_000017.11:g.75629204G>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu741Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75629202G>A	NCI-TCGA
RECQL5	O94762	p.Ala742Ser	rs764809290	missense variant	-	NC_000017.11:g.75629199C>A	ExAC,gnomAD
RECQL5	O94762	p.Gly744Ser	rs1031468094	missense variant	-	NC_000017.11:g.75629193C>T	TOPMed,gnomAD
RECQL5	O94762	p.Gly744Val	rs1172051773	missense variant	-	NC_000017.11:g.75629192C>A	gnomAD
RECQL5	O94762	p.Arg745Gln	rs762057927	missense variant	-	NC_000017.11:g.75629189C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg745Leu	rs762057927	missense variant	-	NC_000017.11:g.75629189C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg745Trp	rs375398949	missense variant	-	NC_000017.11:g.75629190G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser747Asn	rs927135204	missense variant	-	NC_000017.11:g.75629183C>T	TOPMed
RECQL5	O94762	p.Ser747Gly	rs1192990904	missense variant	-	NC_000017.11:g.75629184T>C	gnomAD
RECQL5	O94762	p.Lys748Arg	rs775853898	missense variant	-	NC_000017.11:g.75629180T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys748Asn	rs746387845	missense variant	-	NC_000017.11:g.75629179C>G	ExAC,gnomAD
RECQL5	O94762	p.Lys748Asn	rs746387845	missense variant	-	NC_000017.11:g.75629179C>A	ExAC,gnomAD
RECQL5	O94762	p.Gln750Arg	rs779281071	missense variant	-	NC_000017.11:g.75629174T>C	ExAC,gnomAD
RECQL5	O94762	p.Gln750Glu	rs1416129691	missense variant	-	NC_000017.11:g.75629175G>C	TOPMed,gnomAD
RECQL5	O94762	p.Gln750Ter	rs1416129691	stop gained	-	NC_000017.11:g.75629175G>A	TOPMed,gnomAD
RECQL5	O94762	p.Leu752Phe	rs757413211	missense variant	-	NC_000017.11:g.75629169G>A	ExAC,gnomAD
RECQL5	O94762	p.Thr755Ile	rs1445545463	missense variant	-	NC_000017.11:g.75629159G>A	TOPMed
RECQL5	O94762	p.Ala756Val	rs368586303	missense variant	-	NC_000017.11:g.75629156G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.His758Tyr	rs114006902	missense variant	-	NC_000017.11:g.75629151G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys759Glu	rs1216501702	missense variant	-	NC_000017.11:g.75629148T>C	TOPMed
RECQL5	O94762	p.Lys759Ter	rs1216501702	stop gained	-	NC_000017.11:g.75629148T>A	TOPMed
RECQL5	O94762	p.Asp760Asn	rs750442936	missense variant	-	NC_000017.11:g.75629145C>T	ExAC,gnomAD
RECQL5	O94762	p.Ser761Cys	rs765072951	missense variant	-	NC_000017.11:g.75629141G>C	ExAC,gnomAD
RECQL5	O94762	p.Ser763Asn	rs1395049669	missense variant	-	NC_000017.11:g.75629135C>T	TOPMed,gnomAD
RECQL5	O94762	p.Ser763Thr	rs1395049669	missense variant	-	NC_000017.11:g.75629135C>G	TOPMed,gnomAD
RECQL5	O94762	p.Ser763Arg	rs1208483586	missense variant	-	NC_000017.11:g.75629134G>C	TOPMed
RECQL5	O94762	p.Ile764Thr	rs1473336539	missense variant	-	NC_000017.11:g.75629132A>G	gnomAD
RECQL5	O94762	p.Ile764Phe	rs201921330	missense variant	-	NC_000017.11:g.75629133T>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ile764Val	rs201921330	missense variant	-	NC_000017.11:g.75629133T>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala765Thr	rs114003047	missense variant	-	NC_000017.11:g.75629130C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg766Leu	rs200403434	missense variant	-	NC_000017.11:g.75629126C>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg766Pro	rs200403434	missense variant	-	NC_000017.11:g.75629126C>G	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg766His	rs200403434	missense variant	-	NC_000017.11:g.75629126C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg766Cys	rs186857427	missense variant	-	NC_000017.11:g.75629127G>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg766Gly	rs186857427	missense variant	-	NC_000017.11:g.75629127G>C	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe767Leu	rs771306699	missense variant	-	NC_000017.11:g.75629122G>C	ExAC,gnomAD
RECQL5	O94762	p.Phe767Cys	rs774967043	missense variant	-	NC_000017.11:g.75629123A>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Cys769Tyr	rs749776169	missense variant	-	NC_000017.11:g.75629117C>T	ExAC,TOPMed
RECQL5	O94762	p.Cys769Ser	rs749776169	missense variant	-	NC_000017.11:g.75629117C>G	ExAC,TOPMed
RECQL5	O94762	p.Arg770Gln	rs202116343	missense variant	-	NC_000017.11:g.75629114C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg770Ter	rs532732579	stop gained	-	NC_000017.11:g.75629115G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val772Met	rs748388173	missense variant	-	NC_000017.11:g.75629109C>T	ExAC,gnomAD
RECQL5	O94762	p.Glu773Gln	rs781267560	missense variant	-	NC_000017.11:g.75629106C>G	ExAC,gnomAD
RECQL5	O94762	p.Ser774Thr	rs1262831741	missense variant	-	NC_000017.11:g.75629102C>G	gnomAD
RECQL5	O94762	p.Pro775Leu	rs181843598	missense variant	-	NC_000017.11:g.75629099G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro775Arg	rs181843598	missense variant	-	NC_000017.11:g.75629099G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala776Val	rs750163342	missense variant	-	NC_000017.11:g.75629096G>A	ExAC,gnomAD
RECQL5	O94762	p.Leu777Pro	rs34354281	missense variant	-	NC_000017.11:g.75629093A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu778Gln	rs763597090	missense variant	-	NC_000017.11:g.75629090A>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu778Val	rs1270935470	missense variant	-	NC_000017.11:g.75629091G>C	TOPMed
RECQL5	O94762	p.Ala779Thr	rs556638061	missense variant	-	NC_000017.11:g.75629088C>T	1000Genomes,ExAC
RECQL5	O94762	p.Ala779Ser	rs556638061	missense variant	-	NC_000017.11:g.75629088C>A	1000Genomes,ExAC
RECQL5	O94762	p.Ser780Ala	rs536207105	missense variant	-	NC_000017.11:g.75629085A>C	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser780Ter	rs201257599	stop gained	-	NC_000017.11:g.75629084G>C	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser780Ter	rs201257599	stop gained	-	NC_000017.11:g.75629084G>T	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro782ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.75629077_75629078TG>-	NCI-TCGA
RECQL5	O94762	p.Pro789Ser	rs774613905	missense variant	-	NC_000017.11:g.75629058G>A	ExAC,gnomAD
RECQL5	O94762	p.Ser790Phe	rs1245767697	missense variant	-	NC_000017.11:g.75629054G>A	TOPMed
RECQL5	O94762	p.Cys791Arg	rs1289305330	missense variant	-	NC_000017.11:g.75629052A>G	gnomAD
RECQL5	O94762	p.Glu792Lys	COSM417985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629049C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Val794Ala	COSM4069606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629042A>G	NCI-TCGA Cosmic
RECQL5	O94762	p.Gln795Ter	rs773790672	stop gained	-	NC_000017.11:g.75629040G>A	ExAC,gnomAD
RECQL5	O94762	p.Pro798Leu	rs373069844	missense variant	-	NC_000017.11:g.75629030G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Met799Ile	rs964422067	missense variant	-	NC_000017.11:g.75629026C>G	TOPMed,gnomAD
RECQL5	O94762	p.Pro801Ser	COSM3403216	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629022G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Glu802Asp	COSM4875961	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75629017C>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Lys803Glu	rs755122127	missense variant	-	NC_000017.11:g.75629016T>C	ExAC,gnomAD
RECQL5	O94762	p.Lys803Arg	rs768729269	missense variant	-	NC_000017.11:g.75629015T>C	ExAC,gnomAD
RECQL5	O94762	p.Thr805Ile	rs747205660	missense variant	-	NC_000017.11:g.75629009G>A	ExAC,gnomAD
RECQL5	O94762	p.Glu808Gln	rs778585654	missense variant	-	NC_000017.11:g.75629001C>G	ExAC,gnomAD
RECQL5	O94762	p.Glu808Gly	rs1418167393	missense variant	-	NC_000017.11:g.75629000T>C	gnomAD
RECQL5	O94762	p.Asp809Ala	rs756978892	missense variant	-	NC_000017.11:g.75628997T>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly810Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75628994C>G	NCI-TCGA
RECQL5	O94762	p.Ala811Val	rs1319108580	missense variant	-	NC_000017.11:g.75628991G>A	TOPMed
RECQL5	O94762	p.Gly812Arg	rs777672414	missense variant	-	NC_000017.11:g.75628989C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly812Val	rs1407319208	missense variant	-	NC_000017.11:g.75628988C>A	TOPMed,gnomAD
RECQL5	O94762	p.Gly812Arg	rs777672414	missense variant	-	NC_000017.11:g.75628989C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly813Ala	rs755666910	missense variant	-	NC_000017.11:g.75628985C>G	ExAC,gnomAD
RECQL5	O94762	p.Gly813Glu	rs755666910	missense variant	-	NC_000017.11:g.75628985C>T	ExAC,gnomAD
RECQL5	O94762	p.His814Tyr	rs1031415891	missense variant	-	NC_000017.11:g.75628983G>A	TOPMed,gnomAD
RECQL5	O94762	p.His814Arg	rs375979344	missense variant	-	NC_000017.11:g.75628982T>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.His814Pro	rs375979344	missense variant	-	NC_000017.11:g.75628982T>G	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser815Trp	rs34802834	missense variant	-	NC_000017.11:g.75628979G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser815Leu	rs34802834	missense variant	-	NC_000017.11:g.75628979G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro816Ser	rs766857277	missense variant	-	NC_000017.11:g.75628977G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro819Leu	rs1278700655	missense variant	-	NC_000017.11:g.75628967G>A	gnomAD
RECQL5	O94762	p.Pro819Thr	rs773915180	missense variant	-	NC_000017.11:g.75628968G>T	ExAC,gnomAD
RECQL5	O94762	p.Gln820His	COSM3796087	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628963C>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Gln820Pro	rs912554122	missense variant	-	NC_000017.11:g.75628964T>G	TOPMed
RECQL5	O94762	p.Glu822Asp	rs369740131	missense variant	-	NC_000017.11:g.75628957C>G	ESP,gnomAD
RECQL5	O94762	p.Glu823Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75628956C>T	NCI-TCGA
RECQL5	O94762	p.Cys824Ser	rs1013217545	missense variant	-	NC_000017.11:g.75628952C>G	TOPMed,gnomAD
RECQL5	O94762	p.Cys824Tyr	rs1013217545	missense variant	-	NC_000017.11:g.75628952C>T	TOPMed,gnomAD
RECQL5	O94762	p.Leu825Phe	rs199907830	missense variant	-	NC_000017.11:g.75628950G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu825Pro	rs1365463456	missense variant	-	NC_000017.11:g.75628949A>G	TOPMed
RECQL5	O94762	p.Arg826Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75628946C>A	NCI-TCGA
RECQL5	O94762	p.Arg826Gly	rs1470497892	missense variant	-	NC_000017.11:g.75628947T>C	TOPMed
RECQL5	O94762	p.Arg828Lys	rs1162609142	missense variant	-	NC_000017.11:g.75628940C>T	TOPMed
RECQL5	O94762	p.Ser830Asn	rs1291042591	missense variant	-	NC_000017.11:g.75628934C>T	gnomAD
RECQL5	O94762	p.Thr831Ile	rs1234593799	missense variant	-	NC_000017.11:g.75628760G>A	TOPMed
RECQL5	O94762	p.Thr831Asn	rs1234593799	missense variant	-	NC_000017.11:g.75628760G>T	TOPMed
RECQL5	O94762	p.Cys832Tyr	COSM195402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628757C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Pro833Leu	rs547473877	missense variant	-	NC_000017.11:g.75628754G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro833Ser	rs377702915	missense variant	-	NC_000017.11:g.75628755G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro833Thr	rs377702915	missense variant	-	NC_000017.11:g.75628755G>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro834His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75628751G>T	NCI-TCGA
RECQL5	O94762	p.Pro834Leu	COSM1480008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628751G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Arg835Ter	rs202018745	stop gained	-	NC_000017.11:g.75628749T>A	1000Genomes
RECQL5	O94762	p.Asp836Val	rs771802016	missense variant	-	NC_000017.11:g.75628745T>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp836Asn	rs374476092	missense variant	-	NC_000017.11:g.75628746C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp836Glu	rs1291336820	missense variant	-	NC_000017.11:g.75628744G>C	gnomAD
RECQL5	O94762	p.Gly838Ser	rs1318850963	missense variant	-	NC_000017.11:g.75628740C>T	gnomAD
RECQL5	O94762	p.Thr839Ile	rs199874162	missense variant	-	NC_000017.11:g.75628736G>A	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Gln843His	rs370135455	missense variant	-	NC_000017.11:g.75628723C>A	ESP,ExAC,gnomAD
RECQL5	O94762	p.Pro844Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75628722G>A	NCI-TCGA
RECQL5	O94762	p.Pro844Leu	rs1402883629	missense variant	-	NC_000017.11:g.75628721G>A	gnomAD
RECQL5	O94762	p.Pro846Leu	rs747815100	missense variant	-	NC_000017.11:g.75628715G>A	ExAC,gnomAD
RECQL5	O94762	p.Ala847Thr	rs768609752	missense variant	-	NC_000017.11:g.75628713C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys848Glu	rs746881212	missense variant	-	NC_000017.11:g.75628710T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Asp849Val	COSM473366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628706T>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Thr850Arg	rs771640717	missense variant	-	NC_000017.11:g.75628703G>C	ExAC,gnomAD
RECQL5	O94762	p.Trp851Arg	rs745582738	missense variant	-	NC_000017.11:g.75628701A>T	ExAC,gnomAD
RECQL5	O94762	p.Arg855Gln	rs1487001585	missense variant	-	NC_000017.11:g.75628688C>T	gnomAD
RECQL5	O94762	p.Arg855Trp	rs757609790	missense variant	-	NC_000017.11:g.75628689G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Pro856Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75628686G>A	NCI-TCGA
RECQL5	O94762	p.Pro856Leu	rs1375020487	missense variant	-	NC_000017.11:g.75628685G>A	TOPMed
RECQL5	O94762	p.Arg857Ter	rs778498749	stop gained	-	NC_000017.11:g.75628683G>A	TOPMed,gnomAD
RECQL5	O94762	p.Arg857Gln	rs1259030349	missense variant	-	NC_000017.11:g.75628682C>T	TOPMed,gnomAD
RECQL5	O94762	p.Arg857Gly	rs778498749	missense variant	-	NC_000017.11:g.75628683G>C	TOPMed,gnomAD
RECQL5	O94762	p.Gln860His	rs1238424459	missense variant	-	NC_000017.11:g.75628672C>A	TOPMed,gnomAD
RECQL5	O94762	p.Glu861Gly	rs770646571	missense variant	-	NC_000017.11:g.75628441T>C	ExAC,gnomAD
RECQL5	O94762	p.Asn862Lys	rs369545196	missense variant	-	NC_000017.11:g.75628437G>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu864Gly	rs778210048	missense variant	-	NC_000017.11:g.75628432T>C	ExAC,gnomAD
RECQL5	O94762	p.Glu864Gln	COSM6147919	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628433C>G	NCI-TCGA Cosmic
RECQL5	O94762	p.Glu864Asp	rs375299522	missense variant	-	NC_000017.11:g.75628431C>G	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser865Arg	rs552075479	missense variant	-	NC_000017.11:g.75628430T>G	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Ser865Cys	rs552075479	missense variant	-	NC_000017.11:g.75628430T>A	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Ser865Asn	rs1051549858	missense variant	-	NC_000017.11:g.75628429C>T	TOPMed
RECQL5	O94762	p.Gln866Arg	rs1317529728	missense variant	-	NC_000017.11:g.75628426T>C	TOPMed
RECQL5	O94762	p.Gln866Ter	rs755102989	stop gained	-	NC_000017.11:g.75628427G>A	ExAC,gnomAD
RECQL5	O94762	p.Gln868Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.75628421G>A	NCI-TCGA
RECQL5	O94762	p.Pro871Ala	rs1232809240	missense variant	-	NC_000017.11:g.75628412G>C	TOPMed
RECQL5	O94762	p.Arg872His	rs372355133	missense variant	-	NC_000017.11:g.75628408C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg872Cys	rs766331424	missense variant	-	NC_000017.11:g.75628409G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser874Leu	COSM4841583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628402G>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Ala875Ser	rs1018345493	missense variant	-	NC_000017.11:g.75628400C>A	TOPMed,gnomAD
RECQL5	O94762	p.Ala875Pro	rs1018345493	missense variant	-	NC_000017.11:g.75628400C>G	TOPMed,gnomAD
RECQL5	O94762	p.Lys876Asn	rs760533874	missense variant	-	NC_000017.11:g.75628395C>A	ExAC,gnomAD
RECQL5	O94762	p.Pro877Ser	rs1451289776	missense variant	-	NC_000017.11:g.75628394G>A	gnomAD
RECQL5	O94762	p.Val879Leu	rs201903596	missense variant	-	NC_000017.11:g.75628388C>G	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val879Ile	rs201903596	missense variant	-	NC_000017.11:g.75628388C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val880Ile	rs367937094	missense variant	-	NC_000017.11:g.75628385C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala881Val	rs770206332	missense variant	-	NC_000017.11:g.75628381G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu882Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75628379C>G	NCI-TCGA
RECQL5	O94762	p.Glu882Lys	COSM4831924	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628379C>T	NCI-TCGA Cosmic
RECQL5	O94762	p.Lys884Gln	rs1444121788	missense variant	-	NC_000017.11:g.75628373T>G	TOPMed
RECQL5	O94762	p.Gly885Asp	rs1378428742	missense variant	-	NC_000017.11:g.75628369C>T	TOPMed
RECQL5	O94762	p.Gly885Ser	rs748493245	missense variant	-	NC_000017.11:g.75628370C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val887Ile	rs747425084	missense variant	-	NC_000017.11:g.75628364C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser888Leu	rs549355707	missense variant	-	NC_000017.11:g.75628360G>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala889Asp	rs1364345808	missense variant	-	NC_000017.11:g.75628357G>T	gnomAD
RECQL5	O94762	p.Ala889Thr	rs372043569	missense variant	-	NC_000017.11:g.75628358C>T	ESP,TOPMed,gnomAD
RECQL5	O94762	p.Ser890Thr	rs928380682	missense variant	-	NC_000017.11:g.75628354C>G	TOPMed,gnomAD
RECQL5	O94762	p.Ser890Arg	rs981528060	missense variant	-	NC_000017.11:g.75628353G>C	TOPMed,gnomAD
RECQL5	O94762	p.Ser890Ile	rs928380682	missense variant	-	NC_000017.11:g.75628354C>A	TOPMed,gnomAD
RECQL5	O94762	p.Glu891Gln	rs758403193	missense variant	-	NC_000017.11:g.75628352C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu891Lys	rs758403193	missense variant	-	NC_000017.11:g.75628352C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gln892Arg	rs750715240	missense variant	-	NC_000017.11:g.75628348T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly893Ser	rs765352857	missense variant	-	NC_000017.11:g.75628346C>T	ExAC,gnomAD
RECQL5	O94762	p.Pro897Ser	rs201290003	missense variant	-	NC_000017.11:g.75628334G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Thr898Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75628331T>G	NCI-TCGA
RECQL5	O94762	p.Thr898Met	rs375328138	missense variant	-	NC_000017.11:g.75628330G>A	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Thr898Ala	rs1417016810	missense variant	-	NC_000017.11:g.75628331T>C	TOPMed
RECQL5	O94762	p.Ala899Gly	rs759556359	missense variant	-	NC_000017.11:g.75628327G>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gln900Ter	rs1432731002	stop gained	-	NC_000017.11:g.75628325G>A	TOPMed
RECQL5	O94762	p.Asp901Glu	rs1301559876	missense variant	-	NC_000017.11:g.75628320G>T	gnomAD
RECQL5	O94762	p.Asp901His	COSM417986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75628322C>G	NCI-TCGA Cosmic
RECQL5	O94762	p.Phe903Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75628316A>C	NCI-TCGA
RECQL5	O94762	p.Leu905Pro	rs951414274	missense variant	-	NC_000017.11:g.75628309A>G	TOPMed
RECQL5	O94762	p.Ser906Cys	rs368295731	missense variant	-	NC_000017.11:g.75628306G>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser906Pro	rs372221920	missense variant	-	NC_000017.11:g.75628307A>G	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala907Ser	rs769408630	missense variant	-	NC_000017.11:g.75628304C>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala907Thr	rs769408630	missense variant	-	NC_000017.11:g.75628304C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala907Pro	rs769408630	missense variant	-	NC_000017.11:g.75628304C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val910Ile	rs189805934	missense variant	-	NC_000017.11:g.75628295C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser911Phe	rs780410689	missense variant	-	NC_000017.11:g.75628291G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ser911Pro	rs747556743	missense variant	-	NC_000017.11:g.75628292A>G	ExAC,gnomAD
RECQL5	O94762	p.Leu912Phe	rs772243083	missense variant	-	NC_000017.11:g.75628287C>G	ExAC,gnomAD
RECQL5	O94762	p.Glu914Ala	rs745902785	missense variant	-	NC_000017.11:g.75628282T>G	ExAC,gnomAD
RECQL5	O94762	p.Glu914Lys	rs1349090285	missense variant	-	NC_000017.11:g.75628283C>T	gnomAD
RECQL5	O94762	p.Ala915Pro	rs1224464242	missense variant	-	NC_000017.11:g.75628280C>G	gnomAD
RECQL5	O94762	p.Ala916Glu	rs757572489	missense variant	-	NC_000017.11:g.75628276G>T	ExAC,gnomAD
RECQL5	O94762	p.Ala916Thr	rs779095507	missense variant	-	NC_000017.11:g.75628277C>T	ExAC
RECQL5	O94762	p.Asn917Thr	rs140565320	missense variant	-	NC_000017.11:g.75628273T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val918Ile	rs1191928659	missense variant	-	NC_000017.11:g.75628271C>T	TOPMed
RECQL5	O94762	p.Val918Ala	rs1404555172	missense variant	-	NC_000017.11:g.75628270A>G	TOPMed,gnomAD
RECQL5	O94762	p.Val919Met	rs376949859	missense variant	-	NC_000017.11:g.75628268C>T	1000Genomes,ESP,ExAC,gnomAD
RECQL5	O94762	p.Val920Gly	rs996866892	missense variant	-	NC_000017.11:g.75628264A>C	TOPMed,gnomAD
RECQL5	O94762	p.Cys922Tyr	rs754812836	missense variant	-	NC_000017.11:g.75628258C>T	ExAC,gnomAD
RECQL5	O94762	p.Thr924Asn	rs751576684	missense variant	-	NC_000017.11:g.75628252G>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Phe926Leu	rs1481404497	missense variant	-	NC_000017.11:g.75628247A>G	TOPMed,gnomAD
RECQL5	O94762	p.Phe926Leu	rs1432634734	missense variant	-	NC_000017.11:g.75628245G>T	TOPMed
RECQL5	O94762	p.Tyr927Cys	rs766206808	missense variant	-	NC_000017.11:g.75628243T>C	ExAC,gnomAD
RECQL5	O94762	p.Lys928Glu	rs749936863	missense variant	-	NC_000017.11:g.75628241T>C	ExAC,gnomAD
RECQL5	O94762	p.Phe932Leu	rs764678400	missense variant	-	NC_000017.11:g.75628227A>C	ExAC,gnomAD
RECQL5	O94762	p.Ala933Thr	rs1308324471	missense variant	-	NC_000017.11:g.75628226C>T	gnomAD
RECQL5	O94762	p.Ser934Cys	rs893983323	missense variant	-	NC_000017.11:g.75628222G>C	TOPMed
RECQL5	O94762	p.Glu936Ter	rs200823933	stop gained	-	NC_000017.11:g.75627692C>A	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Glu936Lys	rs200823933	missense variant	-	NC_000017.11:g.75627692C>T	1000Genomes,ExAC,gnomAD
RECQL5	O94762	p.Glu936Val	rs540718425	missense variant	-	NC_000017.11:g.75627691T>A	1000Genomes
RECQL5	O94762	p.Ala942Val	rs199824535	missense variant	-	NC_000017.11:g.75627673G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg943His	rs200535477	missense variant	-	NC_000017.11:g.75627670C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg943Leu	rs200535477	missense variant	-	NC_000017.11:g.75627670C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg943Cys	rs753537300	missense variant	-	NC_000017.11:g.75627671G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Leu945Phe	rs1234954718	missense variant	-	NC_000017.11:g.75627665G>A	gnomAD
RECQL5	O94762	p.His947Arg	rs1292806765	missense variant	-	NC_000017.11:g.75627658T>C	gnomAD
RECQL5	O94762	p.His947Asn	rs760335198	missense variant	-	NC_000017.11:g.75627659G>T	ExAC,gnomAD
RECQL5	O94762	p.Leu949Pro	rs942517932	missense variant	-	NC_000017.11:g.75627652A>G	TOPMed,gnomAD
RECQL5	O94762	p.Thr950Ile	rs1224260777	missense variant	-	NC_000017.11:g.75627649G>A	gnomAD
RECQL5	O94762	p.Gln951Ter	rs1185280594	stop gained	-	NC_000017.11:g.75627647G>A	TOPMed
RECQL5	O94762	p.Gln951Glu	COSM3820557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75627647G>C	NCI-TCGA Cosmic
RECQL5	O94762	p.Ser954Ala	rs1031418571	missense variant	-	NC_000017.11:g.75627638A>C	TOPMed
RECQL5	O94762	p.Ser958Arg	rs200560792	missense variant	-	NC_000017.11:g.75627624G>C	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Val959Met	rs199567243	missense variant	-	NC_000017.11:g.75627623C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Lys960Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75627520T>C	NCI-TCGA
RECQL5	O94762	p.Glu962Lys	rs1169123314	missense variant	-	NC_000017.11:g.75627514C>T	TOPMed
RECQL5	O94762	p.Glu962Asp	rs766963673	missense variant	-	NC_000017.11:g.75627512C>G	ExAC,gnomAD
RECQL5	O94762	p.Ala963Gly	rs1324272254	missense variant	-	NC_000017.11:g.75627510G>C	gnomAD
RECQL5	O94762	p.Gln964Glu	rs1374818448	missense variant	-	NC_000017.11:g.75627508G>C	TOPMed
RECQL5	O94762	p.His969Pro	rs769855620	missense variant	-	NC_000017.11:g.75627492T>G	ExAC,gnomAD
RECQL5	O94762	p.His969Arg	rs769855620	missense variant	-	NC_000017.11:g.75627492T>C	ExAC,gnomAD
RECQL5	O94762	p.Phe970Leu	rs1359227188	missense variant	-	NC_000017.11:g.75627488G>T	gnomAD
RECQL5	O94762	p.Phe970Leu	rs776909963	missense variant	-	NC_000017.11:g.75627490A>G	ExAC,gnomAD
RECQL5	O94762	p.His972Arg	rs771821698	missense variant	-	NC_000017.11:g.75627483T>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg974Gln	rs374012200	missense variant	-	NC_000017.11:g.75627477C>T	ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg974Trp	rs555807142	missense variant	-	NC_000017.11:g.75627478G>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg974Gly	rs555807142	missense variant	-	NC_000017.11:g.75627478G>C	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala975Ser	rs1377245802	missense variant	-	NC_000017.11:g.75627475C>A	gnomAD
RECQL5	O94762	p.Arg976Trp	rs752348322	missense variant	-	NC_000017.11:g.75627472G>A	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Arg976Leu	COSM3796086	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75627471C>A	NCI-TCGA Cosmic
RECQL5	O94762	p.Arg976Gln	rs780872873	missense variant	-	NC_000017.11:g.75627471C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Cys977Tyr	rs1461666161	missense variant	-	NC_000017.11:g.75627468C>T	gnomAD
RECQL5	O94762	p.Glu978Asp	rs750876695	missense variant	-	NC_000017.11:g.75627464C>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu978Val	rs1347871956	missense variant	-	NC_000017.11:g.75627465T>A	TOPMed
RECQL5	O94762	p.Glu978Lys	rs766805103	missense variant	-	NC_000017.11:g.75627466C>T	ExAC,gnomAD
RECQL5	O94762	p.Ser979Asn	rs201830334	missense variant	-	NC_000017.11:g.75627462C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Glu980Lys	rs761941890	missense variant	-	NC_000017.11:g.75627460C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Ala981Pro	rs1296143848	missense variant	-	NC_000017.11:g.75627457C>G	gnomAD
RECQL5	O94762	p.Ala981Asp	rs1214573794	missense variant	-	NC_000017.11:g.75627456G>T	TOPMed
RECQL5	O94762	p.Asp982Glu	rs1384121681	missense variant	-	NC_000017.11:g.75627452G>T	gnomAD
RECQL5	O94762	p.Asp982Asn	rs989564795	missense variant	-	NC_000017.11:g.75627454C>T	TOPMed,gnomAD
RECQL5	O94762	p.Trp983Arg	rs768951440	missense variant	-	NC_000017.11:g.75627451A>G	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Trp983Gly	rs768951440	missense variant	-	NC_000017.11:g.75627451A>C	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Trp983Ter	rs760837636	stop gained	-	NC_000017.11:g.75627449C>T	ExAC,gnomAD
RECQL5	O94762	p.His984Arg	rs1168917771	missense variant	-	NC_000017.11:g.75627447T>C	gnomAD
RECQL5	O94762	p.His984Tyr	rs553192607	missense variant	-	NC_000017.11:g.75627448G>A	1000Genomes,ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly985Val	rs1167983890	missense variant	-	NC_000017.11:g.75627444C>A	TOPMed,gnomAD
RECQL5	O94762	p.Gly985Ser	rs749285610	missense variant	-	NC_000017.11:g.75627445C>T	ExAC,TOPMed,gnomAD
RECQL5	O94762	p.Gly988Asp	rs1452587358	missense variant	-	NC_000017.11:g.75627435C>T	TOPMed,gnomAD
RECQL5	O94762	p.Pro989Arg	rs1185301227	missense variant	-	NC_000017.11:g.75627432G>C	gnomAD
RECQL5	O94762	p.Gln990His	rs1441827635	missense variant	-	NC_000017.11:g.75627428C>G	gnomAD
RECQL5	O94762	p.Ter992Arg	rs1250966205	stop lost	-	NC_000017.11:g.75627424A>G	gnomAD
ALDH1A2	O94788	p.Thr2Ile	rs748211403	missense variant	-	NC_000015.10:g.58065646G>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Thr2Asn	rs748211403	missense variant	-	NC_000015.10:g.58065646G>T	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Thr2Ser	rs748211403	missense variant	-	NC_000015.10:g.58065646G>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Lys5Arg	rs755121953	missense variant	-	NC_000015.10:g.58065637T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Lys5Gln	rs781296259	missense variant	-	NC_000015.10:g.58065638T>G	ExAC,gnomAD
ALDH1A2	O94788	p.Lys5Asn	rs1249825935	missense variant	-	NC_000015.10:g.58065636C>G	TOPMed
ALDH1A2	O94788	p.Ile6Val	rs1045263673	missense variant	-	NC_000015.10:g.58065635T>C	TOPMed
ALDH1A2	O94788	p.Ile6Met	rs780158113	missense variant	-	NC_000015.10:g.58065633T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ile6Thr	rs747209920	missense variant	-	NC_000015.10:g.58065634A>G	ExAC,gnomAD
ALDH1A2	O94788	p.Ile6Leu	rs1045263673	missense variant	-	NC_000015.10:g.58065635T>G	TOPMed
ALDH1A2	O94788	p.Glu7Asp	rs757014180	missense variant	-	NC_000015.10:g.58065630C>G	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Glu7Gln	rs1415604433	missense variant	-	NC_000015.10:g.58065632C>G	gnomAD
ALDH1A2	O94788	p.Glu7Asp	rs757014180	missense variant	-	NC_000015.10:g.58065630C>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Met8Ile	rs1166600393	missense variant	-	NC_000015.10:g.58065627C>A	TOPMed,gnomAD
ALDH1A2	O94788	p.Met8Leu	rs1257189989	missense variant	-	NC_000015.10:g.58065629T>G	TOPMed
ALDH1A2	O94788	p.Gly10Ser	rs764117031	missense variant	-	NC_000015.10:g.58065623C>T	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Gly10Cys	rs764117031	missense variant	-	NC_000015.10:g.58065623C>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Glu11Lys	rs1489047660	missense variant	-	NC_000015.10:g.58065620C>T	gnomAD
ALDH1A2	O94788	p.Ala14Thr	rs1255219992	missense variant	-	NC_000015.10:g.58065611C>T	TOPMed,gnomAD
ALDH1A2	O94788	p.Asp15Val	rs1442727463	missense variant	-	NC_000015.10:g.58065607T>A	gnomAD
ALDH1A2	O94788	p.Pro16Thr	rs1193963238	missense variant	-	NC_000015.10:g.58065605G>T	gnomAD
ALDH1A2	O94788	p.Pro16Arg	rs773998771	missense variant	-	NC_000015.10:g.58065604G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ala17Thr	rs143084397	missense variant	-	NC_000015.10:g.58065602C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ala17Asp	rs763303520	missense variant	-	NC_000015.10:g.58065601G>T	ExAC,gnomAD
ALDH1A2	O94788	p.Ala18Thr	rs1283761840	missense variant	-	NC_000015.10:g.58065599C>T	gnomAD
ALDH1A2	O94788	p.Ala18Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58065598G>T	NCI-TCGA
ALDH1A2	O94788	p.Ala18Thr	rs1283761840	missense variant	-	NC_000015.10:g.58065599C>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Met20Ile	rs1203328488	missense variant	-	NC_000015.10:g.58065591C>T	gnomAD
ALDH1A2	O94788	p.Met20Val	rs770263415	missense variant	-	NC_000015.10:g.58065593T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Met20Thr	rs1271855514	missense variant	-	NC_000015.10:g.58065592A>G	TOPMed
ALDH1A2	O94788	p.Ala21Thr	rs1361224225	missense variant	-	NC_000015.10:g.58065590C>T	gnomAD
ALDH1A2	O94788	p.Ala21Val	COSM1373758	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58065589G>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ser22Leu	COSM1301257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58065586G>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Leu23Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58065583A>C	NCI-TCGA
ALDH1A2	O94788	p.His24Tyr	rs1170764419	missense variant	-	NC_000015.10:g.58065581G>A	gnomAD
ALDH1A2	O94788	p.His24Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58065580T>C	NCI-TCGA
ALDH1A2	O94788	p.His24Gln	rs924003291	missense variant	-	NC_000015.10:g.58065579G>T	TOPMed,gnomAD
ALDH1A2	O94788	p.His24Leu	COSM963326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58065580T>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Leu25Val	COSM458993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58065578G>C	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Pro27Leu	rs758609064	missense variant	-	NC_000015.10:g.58065571G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Pro27Ser	rs780321286	missense variant	-	NC_000015.10:g.58065572G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Ser28Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58065569A>G	NCI-TCGA
ALDH1A2	O94788	p.Ser28Leu	rs777754039	missense variant	-	NC_000015.10:g.58065568G>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Pro29Ser	rs1457260160	missense variant	-	NC_000015.10:g.58065566G>A	gnomAD
ALDH1A2	O94788	p.Thr30Met	rs767371211	missense variant	-	NC_000015.10:g.58065562G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Thr30Lys	rs767371211	missense variant	-	NC_000015.10:g.58065562G>T	ExAC,gnomAD
ALDH1A2	O94788	p.Asn32Asp	rs754445947	missense variant	-	NC_000015.10:g.58065557T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Lys36Thr	rs1218450951	missense variant	-	NC_000015.10:g.58065544T>G	TOPMed
ALDH1A2	O94788	p.Tyr37Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58065541T>C	NCI-TCGA
ALDH1A2	O94788	p.Lys39Arg	rs1446777333	missense variant	-	NC_000015.10:g.58065535T>C	TOPMed,gnomAD
ALDH1A2	O94788	p.Ile40Val	rs759685447	missense variant	-	NC_000015.10:g.58014281T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ile40Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58014280A>T	NCI-TCGA
ALDH1A2	O94788	p.Ile40Met	rs145131555	missense variant	-	NC_000015.10:g.58014279G>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ile42Met	rs763124360	missense variant	-	NC_000015.10:g.58014273T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Asn44Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58014269T>C	NCI-TCGA
ALDH1A2	O94788	p.Trp46Ter	rs200134664	stop gained	-	NC_000015.10:g.58014262C>T	1000Genomes
ALDH1A2	O94788	p.Asn48Ser	rs200488880	missense variant	-	NC_000015.10:g.58014256T>C	1000Genomes
ALDH1A2	O94788	p.Asn48Lys	rs1312901295	missense variant	-	NC_000015.10:g.58014255G>C	TOPMed
ALDH1A2	O94788	p.Glu50Gly	rs34266719	missense variant	-	NC_000015.10:g.58014250T>C	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ser51Gly	rs775336823	missense variant	-	NC_000015.10:g.58014248T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Gly52Glu	rs772060439	missense variant	-	NC_000015.10:g.58014244C>T	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Gly52Ala	rs772060439	missense variant	-	NC_000015.10:g.58014244C>G	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg53Gly	rs535828709	missense variant	-	NC_000015.10:g.58014242T>C	1000Genomes,ExAC,gnomAD
ALDH1A2	O94788	p.Val54Met	rs756828101	missense variant	-	NC_000015.10:g.58014239C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Val54Glu	rs1272947714	missense variant	-	NC_000015.10:g.58014238A>T	TOPMed,gnomAD
ALDH1A2	O94788	p.Phe55Leu	rs1232623688	missense variant	-	NC_000015.10:g.58014234G>C	gnomAD
ALDH1A2	O94788	p.Pro56His	rs777495771	missense variant	-	NC_000015.10:g.58014232G>T	ExAC,gnomAD
ALDH1A2	O94788	p.Pro56Ala	rs748847450	missense variant	-	NC_000015.10:g.58014233G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Tyr58His	rs753181767	missense variant	-	NC_000015.10:g.58014227A>G	ExAC,gnomAD
ALDH1A2	O94788	p.Tyr58Cys	rs141412807	missense variant	-	NC_000015.10:g.58014226T>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Pro60Ala	rs755590270	missense variant	-	NC_000015.10:g.58014221G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ala61Ser	rs751657419	missense variant	-	NC_000015.10:g.58014218C>A	ExAC,gnomAD
ALDH1A2	O94788	p.Ala61Thr	COSM265984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58014218C>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Thr62Ser	rs1477421032	missense variant	-	NC_000015.10:g.58014215T>A	gnomAD
ALDH1A2	O94788	p.Glu64Ter	rs1182096588	stop gained	-	NC_000015.10:g.58014209C>A	TOPMed
ALDH1A2	O94788	p.Val66Leu	rs1377673621	missense variant	-	NC_000015.10:g.58014203C>A	gnomAD
ALDH1A2	O94788	p.Glu68Lys	rs1476631656	missense variant	-	NC_000015.10:g.58014197C>T	gnomAD
ALDH1A2	O94788	p.Val69Leu	rs566949896	missense variant	-	NC_000015.10:g.58014194C>G	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Gln70Glu	rs763114869	missense variant	-	NC_000015.10:g.58014191G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Gln70His	rs1395149803	missense variant	-	NC_000015.10:g.58014189T>G	TOPMed
ALDH1A2	O94788	p.Gln70Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58014190T>C	NCI-TCGA
ALDH1A2	O94788	p.Gln70His	rs1395149803	missense variant	-	NC_000015.10:g.58014189T>A	TOPMed
ALDH1A2	O94788	p.Glu71Asp	rs1407708924	missense variant	-	NC_000015.10:g.58014186T>G	TOPMed
ALDH1A2	O94788	p.Asp73Gly	rs1448452625	missense variant	-	NC_000015.10:g.58014181T>C	gnomAD
ALDH1A2	O94788	p.Asp73His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58014182C>G	NCI-TCGA
ALDH1A2	O94788	p.Ala75Thr	rs1385633545	missense variant	-	NC_000015.10:g.58013998C>T	gnomAD
ALDH1A2	O94788	p.Ala75Val	rs560518650	missense variant	-	NC_000015.10:g.58013997G>A	1000Genomes,ExAC
ALDH1A2	O94788	p.Ile77Val	rs1329820628	missense variant	-	NC_000015.10:g.58013992T>C	gnomAD
ALDH1A2	O94788	p.Asp78His	rs1303613977	missense variant	-	NC_000015.10:g.58013989C>G	TOPMed
ALDH1A2	O94788	p.Asp78Ter	NCI-TCGA novel	frameshift	-	NC_000015.10:g.58013989_58013990insA	NCI-TCGA
ALDH1A2	O94788	p.Lys79Thr	rs750580688	missense variant	-	NC_000015.10:g.58013985T>G	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Lys79Glu	rs1345036913	missense variant	-	NC_000015.10:g.58013986T>C	TOPMed
ALDH1A2	O94788	p.Val81Ala	rs1228433800	missense variant	-	NC_000015.10:g.58013979A>G	gnomAD
ALDH1A2	O94788	p.Arg85Gly	rs1170772271	missense variant	-	NC_000015.10:g.58013968G>C	TOPMed,gnomAD
ALDH1A2	O94788	p.Arg85His	rs765361183	missense variant	-	NC_000015.10:g.58013967C>T	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg85Cys	rs1170772271	missense variant	-	NC_000015.10:g.58013968G>A	TOPMed,gnomAD
ALDH1A2	O94788	p.Leu86Gln	rs1162421156	missense variant	-	NC_000015.10:g.58013964A>T	gnomAD
ALDH1A2	O94788	p.Leu86Val	rs1411441697	missense variant	-	NC_000015.10:g.58013965G>C	gnomAD
ALDH1A2	O94788	p.Ala87Pro	rs867011265	missense variant	-	NC_000015.10:g.58013962C>G	TOPMed
ALDH1A2	O94788	p.Ala87Gly	rs1244899392	missense variant	-	NC_000015.10:g.58013961G>C	gnomAD
ALDH1A2	O94788	p.Ala87Thr	rs867011265	missense variant	-	NC_000015.10:g.58013962C>T	TOPMed
ALDH1A2	O94788	p.Phe88Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58013959A>T	NCI-TCGA
ALDH1A2	O94788	p.Phe88Leu	COSM278770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58013957G>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ser89Cys	rs754093862	missense variant	-	NC_000015.10:g.58013955G>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ser89Ala	rs1176649097	missense variant	-	NC_000015.10:g.58013956A>C	TOPMed,gnomAD
ALDH1A2	O94788	p.Trp94Gly	rs1291691344	missense variant	-	NC_000015.10:g.58013941A>C	TOPMed
ALDH1A2	O94788	p.Arg96Lys	rs1490061237	missense variant	-	NC_000015.10:g.58013934C>T	TOPMed
ALDH1A2	O94788	p.Met97Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58013930C>T	NCI-TCGA
ALDH1A2	O94788	p.Met97Leu	rs1206968500	missense variant	-	NC_000015.10:g.58013932T>A	gnomAD
ALDH1A2	O94788	p.Asp98Gly	rs759343623	missense variant	-	NC_000015.10:g.58013928T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ser100Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.58013922G>C	NCI-TCGA
ALDH1A2	O94788	p.Glu101Gly	rs1336810140	missense variant	-	NC_000015.10:g.58013919T>C	gnomAD
ALDH1A2	O94788	p.Arg102Gly	rs1196624385	missense variant	-	NC_000015.10:g.58013917T>C	TOPMed
ALDH1A2	O94788	p.Arg104His	rs769522277	missense variant	-	NC_000015.10:g.58013910C>T	gnomAD
ALDH1A2	O94788	p.Arg104Cys	rs1289349342	missense variant	-	NC_000015.10:g.58013911G>A	TOPMed,gnomAD
ALDH1A2	O94788	p.Asp107Gly	rs1459242358	missense variant	-	NC_000015.10:g.58013901T>C	TOPMed
ALDH1A2	O94788	p.Asp107Glu	rs770969577	missense variant	-	NC_000015.10:g.58013900A>C	ExAC,gnomAD
ALDH1A2	O94788	p.Asp107Asn	rs867232102	missense variant	-	NC_000015.10:g.58013902C>T	TOPMed,gnomAD
ALDH1A2	O94788	p.Leu109Phe	rs894115038	missense variant	-	NC_000015.10:g.58013896G>A	gnomAD
ALDH1A2	O94788	p.Leu109Ile	rs894115038	missense variant	-	NC_000015.10:g.58013896G>T	gnomAD
ALDH1A2	O94788	p.Ala110Val	rs35365164	missense variant	-	NC_000015.10:g.58013892G>A	1000Genomes,ExAC,gnomAD
ALDH1A2	O94788	p.Asp111Glu	rs1386834641	missense variant	-	NC_000015.10:g.58013888G>T	gnomAD
ALDH1A2	O94788	p.Asp111Ala	rs564494455	missense variant	-	NC_000015.10:g.58013889T>G	1000Genomes,ExAC,gnomAD
ALDH1A2	O94788	p.Asp111His	rs938424939	missense variant	-	NC_000015.10:g.58013890C>G	TOPMed,gnomAD
ALDH1A2	O94788	p.Leu112Phe	rs140453054	missense variant	-	NC_000015.10:g.58013885C>G	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Val113Leu	rs747378369	missense variant	-	NC_000015.10:g.58013884C>G	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg115Gln	rs780416747	missense variant	-	NC_000015.10:g.58013877C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Arg115Trp	rs1179037754	missense variant	-	NC_000015.10:g.58013878G>A	gnomAD
ALDH1A2	O94788	p.Arg117Ser	rs369825779	missense variant	-	NC_000015.10:g.58013870C>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ala118Glu	rs755530487	missense variant	-	NC_000015.10:g.58013868G>T	ExAC,gnomAD
ALDH1A2	O94788	p.Val119Phe	rs757354436	missense variant	-	NC_000015.10:g.58013866C>A	ExAC,gnomAD
ALDH1A2	O94788	p.Leu120Val	rs1216607378	missense variant	-	NC_000015.10:g.58013863G>C	gnomAD
ALDH1A2	O94788	p.Leu120Phe	COSM3502743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58013863G>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ala121Gly	rs924333526	missense variant	-	NC_000015.10:g.58013859G>C	gnomAD
ALDH1A2	O94788	p.Ala121Thr	rs754006072	missense variant	-	NC_000015.10:g.58013860C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Gly128Ser	rs1193166675	missense variant	-	NC_000015.10:g.58010760C>T	gnomAD
ALDH1A2	O94788	p.Lys130Asn	rs1429505348	missense variant	-	NC_000015.10:g.58010752T>G	gnomAD
ALDH1A2	O94788	p.Lys130Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58010753T>C	NCI-TCGA
ALDH1A2	O94788	p.Pro131Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58010751G>A	NCI-TCGA
ALDH1A2	O94788	p.Leu133Arg	rs1180694453	missense variant	-	NC_000015.10:g.58010744A>C	gnomAD
ALDH1A2	O94788	p.Leu133Met	rs1331946971	missense variant	-	NC_000015.10:g.58010745G>T	TOPMed
ALDH1A2	O94788	p.Gln134Glu	rs368738169	missense variant	-	NC_000015.10:g.58010742G>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ala135Val	rs771486034	missense variant	-	NC_000015.10:g.58010738G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Tyr137Cys	rs116319331	missense variant	-	NC_000015.10:g.58010732T>C	1000Genomes,ExAC
ALDH1A2	O94788	p.Tyr137His	rs1440144834	missense variant	-	NC_000015.10:g.58010733A>G	TOPMed
ALDH1A2	O94788	p.Tyr137MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.58010733A>-	NCI-TCGA
ALDH1A2	O94788	p.Asp139Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58010727C>T	NCI-TCGA
ALDH1A2	O94788	p.Gly142Ala	rs956393824	missense variant	-	NC_000015.10:g.58010717C>G	gnomAD
ALDH1A2	O94788	p.Gly142Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58010718C>T	NCI-TCGA
ALDH1A2	O94788	p.Gly142Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58010717C>T	NCI-TCGA
ALDH1A2	O94788	p.Val143Ile	rs572439325	missense variant	-	NC_000015.10:g.58010715C>T	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ile144Val	rs1297458757	missense variant	-	NC_000015.10:g.58010712T>C	gnomAD
ALDH1A2	O94788	p.Ile144Met	rs1391591390	missense variant	-	NC_000015.10:g.58010710G>C	gnomAD
ALDH1A2	O94788	p.Lys145Ile	COSM3502742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58010708T>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Thr146Ile	rs1369606280	missense variant	-	NC_000015.10:g.58010705G>A	gnomAD
ALDH1A2	O94788	p.Phe147Leu	rs1394279385	missense variant	-	NC_000015.10:g.58010701A>C	gnomAD
ALDH1A2	O94788	p.Arg148Gln	rs201593015	missense variant	-	NC_000015.10:g.58010699C>T	ESP,ExAC,gnomAD
ALDH1A2	O94788	p.Arg148Ter	COSM963321	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.58010700G>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Tyr149Cys	rs367782487	missense variant	-	NC_000015.10:g.58010696T>C	ESP,ExAC
ALDH1A2	O94788	p.Ala151Thr	rs115875978	missense variant	-	NC_000015.10:g.58010691C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ala151Ser	rs115875978	missense variant	-	NC_000015.10:g.58010691C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Gly152Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58010688C>A	NCI-TCGA
ALDH1A2	O94788	p.Gly152Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58010688C>T	NCI-TCGA
ALDH1A2	O94788	p.Trp153Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58010684C>A	NCI-TCGA
ALDH1A2	O94788	p.Ala154Ser	rs78858944	missense variant	-	NC_000015.10:g.58010682C>A	ExAC,gnomAD
ALDH1A2	O94788	p.Ala154Thr	rs78858944	missense variant	-	NC_000015.10:g.58010682C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Asp155Tyr	COSM3887259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.58010679C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Gly159Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.58010667C>G	NCI-TCGA
ALDH1A2	O94788	p.Thr161Ser	rs902141007	missense variant	-	NC_000015.10:g.58010660G>C	TOPMed,gnomAD
ALDH1A2	O94788	p.Val164Ile	rs1186763851	missense variant	-	NC_000015.10:g.58010652C>T	TOPMed
ALDH1A2	O94788	p.Gly166Arg	rs1205096946	missense variant	-	NC_000015.10:g.57995137C>T	TOPMed
ALDH1A2	O94788	p.Asp167Ala	rs761939819	missense variant	-	NC_000015.10:g.57995133T>G	ExAC,gnomAD
ALDH1A2	O94788	p.Asp167Asn	rs575040621	missense variant	-	NC_000015.10:g.57995134C>T	1000Genomes,ExAC,gnomAD
ALDH1A2	O94788	p.Asp167Tyr	COSM3420477	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995134C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Thr170Ala	rs1323369120	missense variant	-	NC_000015.10:g.57995125T>C	TOPMed,gnomAD
ALDH1A2	O94788	p.Phe171Leu	rs768890166	missense variant	-	NC_000015.10:g.57995122A>G	ExAC,TOPMed
ALDH1A2	O94788	p.Thr172Arg	rs1159614146	missense variant	-	NC_000015.10:g.57995118G>C	gnomAD
ALDH1A2	O94788	p.Arg173Ile	COSM3420476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995115C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Arg173Lys	COSM963318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995115C>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.His174Arg	rs1181706288	missense variant	-	NC_000015.10:g.57995112T>C	TOPMed
ALDH1A2	O94788	p.Glu175Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.57995110C>A	NCI-TCGA
ALDH1A2	O94788	p.Glu175Lys	COSM3502741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995110C>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Pro176Leu	rs780438722	missense variant	-	NC_000015.10:g.57995106G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Ile177Phe	rs1243742183	missense variant	-	NC_000015.10:g.57995104T>A	TOPMed
ALDH1A2	O94788	p.Gly178Arg	rs148475880	missense variant	-	NC_000015.10:g.57995101C>T	ESP,TOPMed
ALDH1A2	O94788	p.Gln182Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57995088T>C	NCI-TCGA
ALDH1A2	O94788	p.Ile183Val	rs777839828	missense variant	-	NC_000015.10:g.57995086T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ile183Phe	COSM4055885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57995086T>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Trp186Ter	COSM3502740	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.57993071C>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Phe188Cys	rs1339185268	missense variant	-	NC_000015.10:g.57993066A>C	gnomAD
ALDH1A2	O94788	p.Phe188Leu	rs1271135399	missense variant	-	NC_000015.10:g.57993065G>T	gnomAD
ALDH1A2	O94788	p.Met192Val	rs1473481583	missense variant	-	NC_000015.10:g.57993055T>C	TOPMed
ALDH1A2	O94788	p.Met192Ile	rs1163376031	missense variant	-	NC_000015.10:g.57993053C>T	TOPMed
ALDH1A2	O94788	p.Ile197Thr	rs1389877799	missense variant	-	NC_000015.10:g.57993039A>G	TOPMed
ALDH1A2	O94788	p.Ala198Val	rs754414994	missense variant	-	NC_000015.10:g.57993036G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Pro199Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57993033G>A	NCI-TCGA
ALDH1A2	O94788	p.Leu201Met	rs746584588	missense variant	-	NC_000015.10:g.57993028A>T	ExAC,gnomAD
ALDH1A2	O94788	p.Cys203Phe	rs779663083	missense variant	-	NC_000015.10:g.57993021C>A	ExAC,gnomAD
ALDH1A2	O94788	p.Cys203Tyr	rs779663083	missense variant	-	NC_000015.10:g.57993021C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Gly204Asp	rs758095172	missense variant	-	NC_000015.10:g.57993018C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Gly204Cys	COSM4055883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57993019C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Asn205Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57993016T>A	NCI-TCGA
ALDH1A2	O94788	p.Thr206Ala	rs750755375	missense variant	-	NC_000015.10:g.57993013T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Val207Glu	rs765478305	missense variant	-	NC_000015.10:g.57993009A>T	ExAC,gnomAD
ALDH1A2	O94788	p.Glu213Gly	rs375479963	missense variant	-	NC_000015.10:g.57992991T>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Glu213Lys	rs757661279	missense variant	-	NC_000015.10:g.57992992C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Glu213Gln	COSM700864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992992C>G	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ser218Thr	rs764730133	missense variant	-	NC_000015.10:g.57992976C>G	ExAC,gnomAD
ALDH1A2	O94788	p.Ser218Ile	rs764730133	missense variant	-	NC_000015.10:g.57992976C>A	ExAC,gnomAD
ALDH1A2	O94788	p.Ser218Asn	COSM1373754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992976C>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ala219Val	rs760824618	missense variant	-	NC_000015.10:g.57992973G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Ala219Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57992973G>T	NCI-TCGA
ALDH1A2	O94788	p.Leu220Phe	rs1333049209	missense variant	-	NC_000015.10:g.57992971G>A	TOPMed
ALDH1A2	O94788	p.Met222Val	rs775761595	missense variant	-	NC_000015.10:g.57992965T>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Gly223Arg	COSM3502738	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992962C>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ala224Asp	rs759794887	missense variant	-	NC_000015.10:g.57992958G>T	ExAC,gnomAD
ALDH1A2	O94788	p.Ala224Thr	rs767821847	missense variant	-	NC_000015.10:g.57992959C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Leu225Val	rs769420073	missense variant	-	NC_000015.10:g.57992956G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Leu225Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57992955A>C	NCI-TCGA
ALDH1A2	O94788	p.Ile226Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57992952A>G	NCI-TCGA
ALDH1A2	O94788	p.Lys227Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.57992950T>A	NCI-TCGA
ALDH1A2	O94788	p.Lys227Glu	rs1342535906	missense variant	-	NC_000015.10:g.57992950T>C	TOPMed
ALDH1A2	O94788	p.Glu228Lys	rs747977737	missense variant	-	NC_000015.10:g.57992947C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Phe231Cys	rs1200681437	missense variant	-	NC_000015.10:g.57992811A>C	TOPMed
ALDH1A2	O94788	p.Gly234Arg	rs1179237166	missense variant	-	NC_000015.10:g.57992803C>T	gnomAD
ALDH1A2	O94788	p.Gly234Glu	COSM3502737	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992802C>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Val235Ile	rs971514250	missense variant	-	NC_000015.10:g.57992800C>T	TOPMed,gnomAD
ALDH1A2	O94788	p.Val235Phe	rs971514250	missense variant	-	NC_000015.10:g.57992800C>A	TOPMed,gnomAD
ALDH1A2	O94788	p.Ile236Val	rs1268373613	missense variant	-	NC_000015.10:g.57992797T>C	gnomAD
ALDH1A2	O94788	p.Asn237Ser	rs778247392	missense variant	-	NC_000015.10:g.57992793T>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ile238Val	rs756573344	missense variant	-	NC_000015.10:g.57992791T>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Leu239Phe	rs1284537476	missense variant	-	NC_000015.10:g.57992786C>A	gnomAD
ALDH1A2	O94788	p.Tyr242His	rs753200418	missense variant	-	NC_000015.10:g.57992779A>G	ExAC,gnomAD
ALDH1A2	O94788	p.Thr245Met	rs781766424	missense variant	-	NC_000015.10:g.57992769G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Ala249Gly	rs751715832	missense variant	-	NC_000015.10:g.57992757G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ile250Val	rs766485133	missense variant	-	NC_000015.10:g.57992755T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ser252Cys	COSM4819059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992748G>C	NCI-TCGA Cosmic
ALDH1A2	O94788	p.His253Asp	rs763272464	missense variant	-	NC_000015.10:g.57992746G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ile254Thr	rs149655951	missense variant	-	NC_000015.10:g.57992742A>G	ESP,ExAC,gnomAD
ALDH1A2	O94788	p.Ile254Val	rs750642260	missense variant	-	NC_000015.10:g.57992743T>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Gly255Asp	rs114474932	missense variant	-	NC_000015.10:g.57992739C>T	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Asp257Asn	rs775338573	missense variant	-	NC_000015.10:g.57992734C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Lys258Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57992731T>G	NCI-TCGA
ALDH1A2	O94788	p.Lys258Asn	COSM5369016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57992729C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ile259Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57992728T>G	NCI-TCGA
ALDH1A2	O94788	p.Ile259Val	rs772058025	missense variant	-	NC_000015.10:g.57992728T>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ala260Thr	rs1373928763	missense variant	-	NC_000015.10:g.57992725C>T	TOPMed
ALDH1A2	O94788	p.Ser264Pro	rs1177361175	missense variant	-	NC_000015.10:g.57992713A>G	gnomAD
ALDH1A2	O94788	p.Thr265Pro	rs537469985	missense variant	-	NC_000015.10:g.57992710T>G	gnomAD
ALDH1A2	O94788	p.Glu266Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57992707C>T	NCI-TCGA
ALDH1A2	O94788	p.Val267Ile	rs747499781	missense variant	-	NC_000015.10:g.57965827C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Lys269Glu	rs780438953	missense variant	-	NC_000015.10:g.57965821T>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Gln272Ter	rs1297784721	stop gained	-	NC_000015.10:g.57965812G>A	gnomAD
ALDH1A2	O94788	p.Glu273Ala	rs746013472	missense variant	-	NC_000015.10:g.57965808T>G	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ala275Ser	rs1277402514	missense variant	-	NC_000015.10:g.57965803C>A	gnomAD
ALDH1A2	O94788	p.Arg277Lys	rs754090135	missense variant	-	NC_000015.10:g.57965796C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Ser278Thr	rs201056912	missense variant	-	NC_000015.10:g.57965793C>G	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Asn279Tyr	rs1183671646	missense variant	-	NC_000015.10:g.57965791T>A	gnomAD
ALDH1A2	O94788	p.Lys281Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57965784T>C	NCI-TCGA
ALDH1A2	O94788	p.Arg282Ser	COSM470873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57965780T>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Leu285Pro	rs754746840	missense variant	-	NC_000015.10:g.57965772A>G	ExAC
ALDH1A2	O94788	p.Gly288Arg	rs1410576445	missense variant	-	NC_000015.10:g.57965764C>T	TOPMed
ALDH1A2	O94788	p.Pro292Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57965751G>A	NCI-TCGA
ALDH1A2	O94788	p.Asn293Ile	rs766296622	missense variant	-	NC_000015.10:g.57965748T>A	ExAC,gnomAD
ALDH1A2	O94788	p.Asn293Thr	rs766296622	missense variant	-	NC_000015.10:g.57965748T>G	ExAC,gnomAD
ALDH1A2	O94788	p.Ile294Val	rs1420006463	missense variant	-	NC_000015.10:g.57965746T>C	TOPMed
ALDH1A2	O94788	p.Asp298Tyr	COSM3502735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57965734C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ala299Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57965731C>A	NCI-TCGA
ALDH1A2	O94788	p.Ala299Gly	rs1276511608	missense variant	-	NC_000015.10:g.57965730G>C	gnomAD
ALDH1A2	O94788	p.Asp300Glu	rs1220240609	missense variant	-	NC_000015.10:g.57965726G>C	gnomAD
ALDH1A2	O94788	p.Leu301Phe	rs1382221127	missense variant	-	NC_000015.10:g.57964068C>G	gnomAD
ALDH1A2	O94788	p.Tyr303His	rs1157497589	missense variant	-	NC_000015.10:g.57964064A>G	gnomAD
ALDH1A2	O94788	p.Tyr303Ser	rs139464985	missense variant	-	NC_000015.10:g.57964063T>G	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Tyr303Cys	rs139464985	missense variant	-	NC_000015.10:g.57964063T>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Gln307Lys	rs1388306393	missense variant	-	NC_000015.10:g.57964052G>T	gnomAD
ALDH1A2	O94788	p.Ala308Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57964048G>A	NCI-TCGA
ALDH1A2	O94788	p.Ala308Thr	rs761420400	missense variant	-	NC_000015.10:g.57964049C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Gln310His	rs1480009589	missense variant	-	NC_000015.10:g.57964041C>G	gnomAD
ALDH1A2	O94788	p.Gly311Ala	rs1417206498	missense variant	-	NC_000015.10:g.57964039C>G	TOPMed
ALDH1A2	O94788	p.Gly311Cys	rs1269326102	missense variant	-	NC_000015.10:g.57964040C>A	gnomAD
ALDH1A2	O94788	p.Val312Met	rs1200984879	missense variant	-	NC_000015.10:g.57964037C>T	gnomAD
ALDH1A2	O94788	p.Val312Gly	rs1166767785	missense variant	-	NC_000015.10:g.57964036A>C	TOPMed
ALDH1A2	O94788	p.Phe313Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57964032G>C	NCI-TCGA
ALDH1A2	O94788	p.Asn315Ser	rs753463120	missense variant	-	NC_000015.10:g.57964027T>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Gln316Lys	rs1260869155	missense variant	-	NC_000015.10:g.57964025G>T	gnomAD
ALDH1A2	O94788	p.Gln318His	rs1205822473	missense variant	-	NC_000015.10:g.57964017C>A	gnomAD
ALDH1A2	O94788	p.Cys319Trp	rs1323724555	missense variant	-	NC_000015.10:g.57964014G>C	TOPMed
ALDH1A2	O94788	p.Thr321Ala	rs761085706	missense variant	-	NC_000015.10:g.57964010T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Gly323Asp	rs772458487	missense variant	-	NC_000015.10:g.57964003C>T	ExAC
ALDH1A2	O94788	p.Arg325Gly	rs963837318	missense variant	-	NC_000015.10:g.57963998G>C	TOPMed,gnomAD
ALDH1A2	O94788	p.Arg325Cys	rs963837318	missense variant	-	NC_000015.10:g.57963998G>A	TOPMed,gnomAD
ALDH1A2	O94788	p.Arg325Leu	rs1236415698	missense variant	-	NC_000015.10:g.57963997C>A	gnomAD
ALDH1A2	O94788	p.Val328Met	rs1230124736	missense variant	-	NC_000015.10:g.57963989C>T	TOPMed
ALDH1A2	O94788	p.Glu330Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57963983C>G	NCI-TCGA
ALDH1A2	O94788	p.Ser331Ter	NCI-TCGA novel	frameshift	-	NC_000015.10:g.57963972_57963979ATAGATGG>-	NCI-TCGA
ALDH1A2	O94788	p.Ile332SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.57963978G>-	NCI-TCGA
ALDH1A2	O94788	p.Tyr333Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57963973T>C	NCI-TCGA
ALDH1A2	O94788	p.Glu334Lys	rs1326368724	missense variant	-	NC_000015.10:g.57963971C>T	gnomAD
ALDH1A2	O94788	p.Glu334Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57963970T>A	NCI-TCGA
ALDH1A2	O94788	p.Phe336Leu	rs770934217	missense variant	-	NC_000015.10:g.57963963A>C	ExAC,gnomAD
ALDH1A2	O94788	p.Phe336Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57963964A>C	NCI-TCGA
ALDH1A2	O94788	p.Arg338Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57963958C>G	NCI-TCGA
ALDH1A2	O94788	p.Arg339Ser	rs1321653431	missense variant	-	NC_000015.10:g.57963954T>G	TOPMed
ALDH1A2	O94788	p.Val341Met	rs769962890	missense variant	-	NC_000015.10:g.57963950C>T	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg343Trp	rs137957671	missense variant	-	NC_000015.10:g.57963944G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg343Gln	rs779670359	missense variant	-	NC_000015.10:g.57963943C>T	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Lys345Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57963936C>G	NCI-TCGA
ALDH1A2	O94788	p.Lys345Arg	rs1466342911	missense variant	-	NC_000015.10:g.57963937T>C	gnomAD
ALDH1A2	O94788	p.Arg346Trp	rs750327790	missense variant	-	NC_000015.10:g.57963935T>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg347Ser	rs778997757	missense variant	-	NC_000015.10:g.57963932G>T	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg347His	rs141245344	missense variant	-	NC_000015.10:g.57963931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg347Cys	rs778997757	missense variant	-	NC_000015.10:g.57963932G>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Val348Ile	rs4646626	missense variant	-	NC_000015.10:g.57963929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Val348Ile	rs4646626	missense variant	-	NC_000015.10:g.57963929C>T	UniProt,dbSNP
ALDH1A2	O94788	p.Val348Ile	VAR_025441	missense variant	-	NC_000015.10:g.57963929C>T	UniProt
ALDH1A2	O94788	p.Ser351Gly	rs1231247954	missense variant	-	NC_000015.10:g.57963920T>C	gnomAD
ALDH1A2	O94788	p.Pro352Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57963917G>C	NCI-TCGA
ALDH1A2	O94788	p.Pro352Ser	rs1366807212	missense variant	-	NC_000015.10:g.57963917G>A	gnomAD
ALDH1A2	O94788	p.Asp354Glu	rs752416528	missense variant	-	NC_000015.10:g.57963909G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Pro355Ser	rs767813198	missense variant	-	NC_000015.10:g.57963908G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Pro355Thr	COSM700865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57963908G>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Thr356Ser	rs763149416	missense variant	-	NC_000015.10:g.57963904G>C	TOPMed,gnomAD
ALDH1A2	O94788	p.Gly360Arg	rs775570769	missense variant	-	NC_000015.10:g.57963893C>G	ExAC,gnomAD
ALDH1A2	O94788	p.Gly360Cys	rs775570769	missense variant	-	NC_000015.10:g.57963893C>A	ExAC,gnomAD
ALDH1A2	O94788	p.Pro361Arg	rs1383241795	missense variant	-	NC_000015.10:g.57963889G>C	gnomAD
ALDH1A2	O94788	p.Pro361Ser	rs773201837	missense variant	-	NC_000015.10:g.57963890G>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Asp364Gly	rs1349510264	missense variant	-	NC_000015.10:g.57962172T>C	gnomAD
ALDH1A2	O94788	p.Asn369Lys	rs1411458398	missense variant	-	NC_000015.10:g.57962156G>C	gnomAD
ALDH1A2	O94788	p.Asn369Asp	COSM1373751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57962158T>C	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Lys370Asn	COSM963317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57962153C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Glu373Ala	rs1302519557	missense variant	-	NC_000015.10:g.57962145T>G	gnomAD
ALDH1A2	O94788	p.Gln376Arg	rs1442466728	missense variant	-	NC_000015.10:g.57962136T>C	TOPMed
ALDH1A2	O94788	p.Ala380Gly	rs1344293487	missense variant	-	NC_000015.10:g.57962124G>C	TOPMed
ALDH1A2	O94788	p.Ala383Thr	rs749124508	missense variant	-	NC_000015.10:g.57962116C>T	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Glu386Lys	rs777771866	missense variant	-	NC_000015.10:g.57962107C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Glu386Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57962106T>G	NCI-TCGA
ALDH1A2	O94788	p.Glu386Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57962105T>G	NCI-TCGA
ALDH1A2	O94788	p.Gly388Arg	rs148157033	missense variant	-	NC_000015.10:g.57962101C>T	ESP
ALDH1A2	O94788	p.Gly389Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57962097C>T	NCI-TCGA
ALDH1A2	O94788	p.Gly391Arg	rs1161618391	missense variant	-	NC_000015.10:g.57962092C>T	gnomAD
ALDH1A2	O94788	p.Arg394Ter	rs747754555	stop gained	-	NC_000015.10:g.57962083G>A	ExAC,gnomAD
ALDH1A2	O94788	p.Arg394Gln	rs376965202	missense variant	-	NC_000015.10:g.57962082C>T	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Lys395Met	rs751240468	missense variant	-	NC_000015.10:g.57962079T>A	ExAC,gnomAD
ALDH1A2	O94788	p.Pro401Ser	rs200868240	missense variant	-	NC_000015.10:g.57962062G>A	1000Genomes,ESP,ExAC,gnomAD
ALDH1A2	O94788	p.Val403Leu	COSM4929159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57962056C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ser405Ala	rs776899385	missense variant	-	NC_000015.10:g.57962050A>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ser405Phe	rs1166777399	missense variant	-	NC_000015.10:g.57962049G>A	gnomAD
ALDH1A2	O94788	p.Asn406Ser	rs143821863	missense variant	-	NC_000015.10:g.57962046T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Val407Ile	rs775867880	missense variant	-	NC_000015.10:g.57962044C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Thr408Ser	rs749175907	missense variant	-	NC_000015.10:g.57962040G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Asp410Tyr	rs1322881604	missense variant	-	NC_000015.10:g.57962035C>A	gnomAD
ALDH1A2	O94788	p.Asp410Gly	rs773013581	missense variant	-	NC_000015.10:g.57962034T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Met411Lys	rs1177253189	missense variant	-	NC_000015.10:g.57962031A>T	gnomAD
ALDH1A2	O94788	p.Arg412Gln	rs200804968	missense variant	-	NC_000015.10:g.57962028C>T	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg412Trp	rs563668428	missense variant	-	NC_000015.10:g.57962029G>A	1000Genomes,TOPMed
ALDH1A2	O94788	p.Lys415Asn	COSM3690648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57962018C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Glu417Ter	rs780644525	stop gained	-	NC_000015.10:g.57962014C>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Ile418Val	rs1408262278	missense variant	-	NC_000015.10:g.57961294T>C	TOPMed,gnomAD
ALDH1A2	O94788	p.Ile418Leu	rs1408262278	missense variant	-	NC_000015.10:g.57961294T>G	TOPMed,gnomAD
ALDH1A2	O94788	p.Gln423Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57961278T>C	NCI-TCGA
ALDH1A2	O94788	p.Glu424Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57961276C>T	NCI-TCGA
ALDH1A2	O94788	p.Glu424Ala	rs1483077688	missense variant	-	NC_000015.10:g.57961275T>G	TOPMed
ALDH1A2	O94788	p.Leu426Phe	rs1276642732	missense variant	-	NC_000015.10:g.57961268C>G	gnomAD
ALDH1A2	O94788	p.Arg427Thr	rs1243899765	missense variant	-	NC_000015.10:g.57961266C>G	gnomAD
ALDH1A2	O94788	p.Thr430Arg	rs374758581	missense variant	-	NC_000015.10:g.57961257G>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Thr430Met	rs374758581	missense variant	-	NC_000015.10:g.57961257G>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Met431Val	rs778492756	missense variant	-	NC_000015.10:g.57961255T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Met431Ile	COSM6077620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57961253C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Asp432Gly	rs756250570	missense variant	-	NC_000015.10:g.57961251T>C	ExAC,gnomAD
ALDH1A2	O94788	p.Glu433Asp	rs1297982467	missense variant	-	NC_000015.10:g.57961247T>G	TOPMed,gnomAD
ALDH1A2	O94788	p.Ile435Val	rs1410776108	missense variant	-	NC_000015.10:g.57961243T>C	gnomAD
ALDH1A2	O94788	p.Glu436Lys	rs34744827	missense variant	-	NC_000015.10:g.57961240C>T	UniProt,dbSNP
ALDH1A2	O94788	p.Glu436Lys	VAR_025442	missense variant	-	NC_000015.10:g.57961240C>T	UniProt
ALDH1A2	O94788	p.Glu436Lys	rs34744827	missense variant	-	NC_000015.10:g.57961240C>T	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Glu436Gln	rs34744827	missense variant	-	NC_000015.10:g.57961240C>G	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Asn439LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.57961229A>-	NCI-TCGA
ALDH1A2	O94788	p.Asn440Lys	rs1349298337	missense variant	-	NC_000015.10:g.57961226G>C	gnomAD
ALDH1A2	O94788	p.Asp442Val	rs761596202	missense variant	-	NC_000015.10:g.57961221T>A	ExAC,gnomAD
ALDH1A2	O94788	p.Val446Ile	rs760154736	missense variant	-	NC_000015.10:g.57961210C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Thr451Ser	rs775105714	missense variant	-	NC_000015.10:g.57961194G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Ile454Val	rs1024580947	missense variant	-	NC_000015.10:g.57961186T>C	gnomAD
ALDH1A2	O94788	p.Asn455Asp	rs375988934	missense variant	-	NC_000015.10:g.57961183T>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Lys456Gln	rs771419880	missense variant	-	NC_000015.10:g.57961180T>G	ExAC,gnomAD
ALDH1A2	O94788	p.Ala457Thr	rs373880063	missense variant	-	NC_000015.10:g.57961177C>T	ESP,ExAC,gnomAD
ALDH1A2	O94788	p.Ala457Val	rs778404979	missense variant	-	NC_000015.10:g.57961176G>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Leu458Phe	rs1296781010	missense variant	-	NC_000015.10:g.57961174G>A	TOPMed
ALDH1A2	O94788	p.Thr459Ala	rs145205757	missense variant	-	NC_000015.10:g.57961171T>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Val460Leu	COSM963316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57961168C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Met464Leu	rs1236197030	missense variant	-	NC_000015.10:g.57961156T>A	TOPMed
ALDH1A2	O94788	p.Gln465Lys	rs781287721	missense variant	-	NC_000015.10:g.57961153G>T	ExAC,gnomAD
ALDH1A2	O94788	p.Val469Ile	rs376959094	missense variant	-	NC_000015.10:g.57961141C>T	ESP,gnomAD
ALDH1A2	O94788	p.Trp470Leu	rs1000157438	missense variant	-	NC_000015.10:g.57961137C>A	gnomAD
ALDH1A2	O94788	p.Trp470Ter	rs1000157438	stop gained	-	NC_000015.10:g.57961137C>T	gnomAD
ALDH1A2	O94788	p.Asn472Ser	rs752676181	missense variant	-	NC_000015.10:g.57960839T>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Tyr474Phe	rs1435112972	missense variant	-	NC_000015.10:g.57960833T>A	gnomAD
ALDH1A2	O94788	p.Ala476Val	COSM963314	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57960827G>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Ala479Thr	COSM3401846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57960819C>T	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Gln480Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57960816G>T	NCI-TCGA
ALDH1A2	O94788	p.Ser481Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57960812C>T	NCI-TCGA
ALDH1A2	O94788	p.Pro482Leu	COSM4903118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57960809G>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Gly492Arg	rs868060815	missense variant	-	NC_000015.10:g.57960780C>T	-
ALDH1A2	O94788	p.Met495Ile	COSM700868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.57955269C>A	NCI-TCGA Cosmic
ALDH1A2	O94788	p.Phe498Ser	rs775989050	missense variant	-	NC_000015.10:g.57955261A>G	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg501Gln	rs779086106	missense variant	-	NC_000015.10:g.57955252C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Arg501Trp	rs746007183	missense variant	-	NC_000015.10:g.57955253G>A	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Arg501Gly	rs746007183	missense variant	-	NC_000015.10:g.57955253G>C	ExAC,TOPMed,gnomAD
ALDH1A2	O94788	p.Tyr503Cys	rs115913750	missense variant	-	NC_000015.10:g.57955246T>C	1000Genomes
ALDH1A2	O94788	p.Ser504Ter	rs780804734	stop gained	-	NC_000015.10:g.57955243G>C	ExAC,gnomAD
ALDH1A2	O94788	p.Val506Ile	rs754819517	missense variant	-	NC_000015.10:g.57955238C>T	ExAC,gnomAD
ALDH1A2	O94788	p.Lys507Asn	rs751479287	missense variant	-	NC_000015.10:g.57955233C>G	ExAC,gnomAD
ALDH1A2	O94788	p.Val509Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.57955228A>C	NCI-TCGA
ALDH1A2	O94788	p.Pro514Leu	rs200798769	missense variant	-	NC_000015.10:g.57955213G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Asp2Glu	rs1418403036	missense variant	-	NC_000001.11:g.110070607G>T	TOPMed
ALX3	O95076	p.Cys6Trp	rs1179137128	missense variant	-	NC_000001.11:g.110070595G>C	TOPMed
ALX3	O95076	p.Ala7Thr	rs975514659	missense variant	-	NC_000001.11:g.110070594C>T	TOPMed,gnomAD
ALX3	O95076	p.Ala7Glu	rs1309475385	missense variant	-	NC_000001.11:g.110070593G>T	TOPMed,gnomAD
ALX3	O95076	p.Ala7Val	rs1309475385	missense variant	-	NC_000001.11:g.110070593G>A	TOPMed,gnomAD
ALX3	O95076	p.Gly12Arg	rs1334792590	missense variant	-	NC_000001.11:g.110070579C>T	TOPMed,gnomAD
ALX3	O95076	p.Gly12Arg	rs1334792590	missense variant	-	NC_000001.11:g.110070579C>G	TOPMed,gnomAD
ALX3	O95076	p.Gly12Glu	rs1471219733	missense variant	-	NC_000001.11:g.110070578C>T	gnomAD
ALX3	O95076	p.Pro13Leu	rs964012645	missense variant	-	NC_000001.11:g.110070575G>A	TOPMed
ALX3	O95076	p.Gly16Cys	rs1303766758	missense variant	-	NC_000001.11:g.110070567C>A	TOPMed
ALX3	O95076	p.Tyr18Cys	rs1361700069	missense variant	-	NC_000001.11:g.110070560T>C	TOPMed,gnomAD
ALX3	O95076	p.Tyr18Phe	rs1361700069	missense variant	-	NC_000001.11:g.110070560T>A	TOPMed,gnomAD
ALX3	O95076	p.Val19Ala	rs1183613164	missense variant	-	NC_000001.11:g.110070557A>G	gnomAD
ALX3	O95076	p.Gly22Arg	rs1331393213	missense variant	-	NC_000001.11:g.110070549C>G	TOPMed
ALX3	O95076	p.Asp23Glu	rs1351190932	missense variant	-	NC_000001.11:g.110070544G>C	TOPMed
ALX3	O95076	p.Glu24Lys	rs1300395938	missense variant	-	NC_000001.11:g.110070543C>T	TOPMed,gnomAD
ALX3	O95076	p.Pro28Arg	rs1020856559	missense variant	-	NC_000001.11:g.110070530G>C	TOPMed
ALX3	O95076	p.Pro28Thr	rs1256366776	missense variant	-	NC_000001.11:g.110070531G>T	TOPMed
ALX3	O95076	p.Pro28Leu	rs1020856559	missense variant	-	NC_000001.11:g.110070530G>A	TOPMed
ALX3	O95076	p.Pro28Ser	rs1256366776	missense variant	-	NC_000001.11:g.110070531G>A	TOPMed
ALX3	O95076	p.Thr31Ser	rs893323237	missense variant	-	NC_000001.11:g.110070521G>C	TOPMed,gnomAD
ALX3	O95076	p.Pro32Arg	rs1198010210	missense variant	-	NC_000001.11:g.110070518G>C	TOPMed
ALX3	O95076	p.Ala35Glu	rs1434513928	missense variant	-	NC_000001.11:g.110070509G>T	TOPMed
ALX3	O95076	p.Pro36Ser	rs1384782742	missense variant	-	NC_000001.11:g.110070507G>A	TOPMed,gnomAD
ALX3	O95076	p.His37Gln	rs1348399808	missense variant	-	NC_000001.11:g.110070502G>C	TOPMed
ALX3	O95076	p.Pro40Ala	rs1460726387	missense variant	-	NC_000001.11:g.110070495G>C	TOPMed
ALX3	O95076	p.Pro43Ser	rs1371658245	missense variant	-	NC_000001.11:g.110070486G>A	TOPMed
ALX3	O95076	p.Pro46Arg	rs774644842	missense variant	-	NC_000001.11:g.110070476G>C	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg47Gln	rs1301333738	missense variant	-	NC_000001.11:g.110070473C>T	TOPMed
ALX3	O95076	p.Leu48Arg	rs769009378	missense variant	-	NC_000001.11:g.110070470A>C	ExAC,gnomAD
ALX3	O95076	p.Arg50Cys	rs1001916056	missense variant	-	NC_000001.11:g.110070465G>A	TOPMed
ALX3	O95076	p.Pro52Leu	rs375790592	missense variant	-	NC_000001.11:g.110070458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Cys54Ser	rs775462465	missense variant	-	NC_000001.11:g.110070453A>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Pro56Ser	rs757496737	missense variant	-	NC_000001.11:g.110070447G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Pro56Thr	rs757496737	missense variant	-	NC_000001.11:g.110070447G>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Leu57Pro	rs1320547873	missense variant	-	NC_000001.11:g.110070443A>G	gnomAD
ALX3	O95076	p.Pro59Thr	rs781525090	missense variant	-	NC_000001.11:g.110070438G>T	ExAC,gnomAD
ALX3	O95076	p.Tyr60Cys	rs771353213	missense variant	-	NC_000001.11:g.110070434T>C	ExAC,gnomAD
ALX3	O95076	p.Leu61His	rs1219901152	missense variant	-	NC_000001.11:g.110070431A>T	TOPMed,gnomAD
ALX3	O95076	p.Pro64Leu	rs372506798	missense variant	-	NC_000001.11:g.110070422G>A	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Ala65Thr	rs754614088	missense variant	-	NC_000001.11:g.110070420C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Ala65Val	rs931112658	missense variant	-	NC_000001.11:g.110070419G>A	TOPMed,gnomAD
ALX3	O95076	p.Pro68Ala	rs12756321	missense variant	-	NC_000001.11:g.110070411G>C	ExAC,gnomAD
ALX3	O95076	p.Pro68Ser	rs12756321	missense variant	-	NC_000001.11:g.110070411G>A	ExAC,gnomAD
ALX3	O95076	p.Ala69Ser	rs1424577146	missense variant	-	NC_000001.11:g.110070408C>A	TOPMed
ALX3	O95076	p.Gly76Arg	rs768518768	missense variant	-	NC_000001.11:g.110070387C>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly76Arg	rs768518768	missense variant	-	NC_000001.11:g.110070387C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly78Cys	rs751418045	missense variant	-	NC_000001.11:g.110070381C>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly78Arg	rs751418045	missense variant	-	NC_000001.11:g.110070381C>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly78Ala	rs1403701618	missense variant	-	NC_000001.11:g.110070380C>G	gnomAD
ALX3	O95076	p.Gly78Ser	rs751418045	missense variant	-	NC_000001.11:g.110070381C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Pro79Arg	rs894251902	missense variant	-	NC_000001.11:g.110070377G>C	TOPMed
ALX3	O95076	p.Pro79Leu	rs894251902	missense variant	-	NC_000001.11:g.110070377G>A	TOPMed
ALX3	O95076	p.Leu81Ile	rs1034525185	missense variant	-	NC_000001.11:g.110070372G>T	TOPMed
ALX3	O95076	p.Asn82Lys	rs764336621	missense variant	-	NC_000001.11:g.110070367G>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly83Arg	rs763124335	missense variant	-	NC_000001.11:g.110070366C>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.His85Leu	rs1353007739	missense variant	-	NC_000001.11:g.110070359T>A	gnomAD
ALX3	O95076	p.Tyr87Ter	rs775617106	stop gained	-	NC_000001.11:g.110070352G>C	ExAC,gnomAD
ALX3	O95076	p.Glu88Lys	rs1036273636	missense variant	-	NC_000001.11:g.110070351C>T	TOPMed,gnomAD
ALX3	O95076	p.Gly89Ser	rs765289566	missense variant	-	NC_000001.11:g.110070348C>T	ExAC,gnomAD
ALX3	O95076	p.Pro90Thr	rs760085972	missense variant	-	NC_000001.11:g.110070345G>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Pro90Ala	rs760085972	missense variant	-	NC_000001.11:g.110070345G>C	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Ala91Val	rs1182288660	missense variant	-	NC_000001.11:g.110070341G>A	TOPMed
ALX3	O95076	p.Glu95Gln	rs765502729	missense variant	-	NC_000001.11:g.110064898C>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Glu95Lys	rs765502729	missense variant	-	NC_000001.11:g.110064898C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Lys96Thr	rs1243868299	missense variant	-	NC_000001.11:g.110064894T>G	TOPMed
ALX3	O95076	p.Ser98Cys	rs759554226	missense variant	-	NC_000001.11:g.110064888G>C	ExAC,gnomAD
ALX3	O95076	p.Ser98Phe	rs759554226	missense variant	-	NC_000001.11:g.110064888G>A	ExAC,gnomAD
ALX3	O95076	p.Ser98Ala	rs1232577650	missense variant	-	NC_000001.11:g.110064889A>C	gnomAD
ALX3	O95076	p.Ala100Asp	rs975515598	missense variant	-	NC_000001.11:g.110064882G>T	gnomAD
ALX3	O95076	p.Ala100Gly	rs975515598	missense variant	-	NC_000001.11:g.110064882G>C	gnomAD
ALX3	O95076	p.Cys110Gly	rs1367826631	missense variant	-	NC_000001.11:g.110064853A>C	gnomAD
ALX3	O95076	p.Arg111Gln	rs772380963	missense variant	-	NC_000001.11:g.110064849C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg111Pro	rs772380963	missense variant	-	NC_000001.11:g.110064849C>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly112Arg	rs550218304	missense variant	-	NC_000001.11:g.110064847C>G	gnomAD
ALX3	O95076	p.Gly113Ser	rs748547900	missense variant	-	NC_000001.11:g.110064844C>T	ExAC,gnomAD
ALX3	O95076	p.Gly113Ala	rs774944899	missense variant	-	NC_000001.11:g.110064843C>G	ExAC,gnomAD
ALX3	O95076	p.Arg115Lys	rs769505099	missense variant	-	NC_000001.11:g.110064837C>T	ExAC,gnomAD
ALX3	O95076	p.Asp116Gly	rs373683008	missense variant	-	NC_000001.11:g.110064834T>C	ESP,TOPMed,gnomAD
ALX3	O95076	p.Asp116His	rs372198014	missense variant	-	NC_000001.11:g.110064835C>G	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Asp116Glu	rs146795178	missense variant	-	NC_000001.11:g.110064833G>T	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Asp116Glu	rs146795178	missense variant	-	NC_000001.11:g.110064833G>C	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Asp116Asn	rs372198014	missense variant	-	NC_000001.11:g.110064835C>T	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly117Arg	rs138645472	missense variant	-	NC_000001.11:g.110064832C>T	1000Genomes,TOPMed,gnomAD
ALX3	O95076	p.Pro118Ser	rs746998409	missense variant	-	NC_000001.11:g.110064829G>A	ExAC,gnomAD
ALX3	O95076	p.Asn120Asp	rs1175764444	missense variant	-	NC_000001.11:g.110064823T>C	gnomAD
ALX3	O95076	p.Gln122His	rs758063471	missense variant	-	NC_000001.11:g.110064815T>G	ExAC,gnomAD
ALX3	O95076	p.Gly123Val	rs1183085942	missense variant	-	NC_000001.11:g.110064813C>A	gnomAD
ALX3	O95076	p.Pro125Ser	rs1265580905	missense variant	-	NC_000001.11:g.110064808G>A	gnomAD
ALX3	O95076	p.Pro127Thr	rs1021734981	missense variant	-	NC_000001.11:g.110064802G>T	TOPMed
ALX3	O95076	p.Cys128Tyr	rs1274651169	missense variant	-	NC_000001.11:g.110064798C>T	TOPMed
ALX3	O95076	p.Cys128Gly	rs1011257958	missense variant	-	NC_000001.11:g.110064799A>C	TOPMed,gnomAD
ALX3	O95076	p.Cys128Ser	rs1011257958	missense variant	-	NC_000001.11:g.110064799A>T	TOPMed,gnomAD
ALX3	O95076	p.Leu129Arg	rs1282612228	missense variant	-	NC_000001.11:g.110064795A>C	gnomAD
ALX3	O95076	p.Leu129Val	rs139794205	missense variant	-	NC_000001.11:g.110064796G>C	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Ala130Pro	rs75373920	missense variant	-	NC_000001.11:g.110064793C>G	ExAC,gnomAD
ALX3	O95076	p.Ser131Arg	rs766497153	missense variant	-	NC_000001.11:g.110064788G>C	ExAC,gnomAD
ALX3	O95076	p.His133Tyr	rs761160635	missense variant	-	NC_000001.11:g.110064784G>A	ExAC,gnomAD
ALX3	O95076	p.Leu134Phe	rs1380450002	missense variant	-	NC_000001.11:g.110064781G>A	gnomAD
ALX3	O95076	p.Pro135Ser	rs750826128	missense variant	-	NC_000001.11:g.110064778G>A	ExAC,gnomAD
ALX3	O95076	p.Ser137Ala	rs907064240	missense variant	-	NC_000001.11:g.110064772A>C	TOPMed
ALX3	O95076	p.Pro138Leu	rs768080424	missense variant	-	NC_000001.11:g.110064768G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Pro138Gln	rs768080424	missense variant	-	NC_000001.11:g.110064768G>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly139Arg	rs1156677151	missense variant	-	NC_000001.11:g.110064766C>T	gnomAD
ALX3	O95076	p.Gly139Glu	rs199713385	missense variant	-	NC_000001.11:g.110064765C>T	1000Genomes,ExAC,gnomAD
ALX3	O95076	p.Asp142Ala	rs940123816	missense variant	-	NC_000001.11:g.110064756T>G	gnomAD
ALX3	O95076	p.Ser143Tyr	rs759311249	missense variant	-	NC_000001.11:g.110064753G>T	ExAC
ALX3	O95076	p.Ser143Ala	rs769539181	missense variant	-	NC_000001.11:g.110064754A>C	ExAC
ALX3	O95076	p.Met144Thr	rs368492786	missense variant	-	NC_000001.11:g.110064750A>G	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Met144Ile	rs1198379411	missense variant	-	NC_000001.11:g.110064749C>T	TOPMed
ALX3	O95076	p.Leu146Trp	rs200156688	missense variant	-	NC_000001.11:g.110064744A>C	1000Genomes,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Ala147Val	rs746523989	missense variant	-	NC_000001.11:g.110064741G>A	ExAC,gnomAD
ALX3	O95076	p.Lys152Gln	rs1020677419	missense variant	-	NC_000001.11:g.110064727T>G	TOPMed
ALX3	O95076	p.Lys153Arg	rs772069495	missense variant	-	NC_000001.11:g.110064723T>C	ExAC,gnomAD
ALX3	O95076	p.Arg154His	rs1286337278	missense variant	-	NC_000001.11:g.110064720C>T	gnomAD
ALX3	O95076	p.Arg154Pro	rs1286337278	missense variant	-	NC_000001.11:g.110064720C>G	gnomAD
ALX3	O95076	p.Arg154Cys	rs535409677	missense variant	-	NC_000001.11:g.110064721G>A	1000Genomes
ALX3	O95076	p.Arg155Cys	rs746228217	missense variant	-	NC_000001.11:g.110064718G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg155His	rs975672419	missense variant	-	NC_000001.11:g.110064717C>T	gnomAD
ALX3	O95076	p.Arg157His	rs755174727	missense variant	-	NC_000001.11:g.110064711C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg157Cys	rs375422680	missense variant	-	NC_000001.11:g.110064712G>A	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Thr158Met	rs1053677141	missense variant	-	NC_000001.11:g.110064708G>A	TOPMed,gnomAD
ALX3	O95076	p.Ser161Gly	rs143366374	missense variant	-	NC_000001.11:g.110064700T>C	ESP
ALX3	O95076	p.Phe163Ser	rs201420718	missense variant	-	NC_000001.11:g.110064693A>G	1000Genomes
ALX3	O95076	p.Glu167Lys	rs1469187660	missense variant	-	NC_000001.11:g.110064682C>T	gnomAD
ALX3	O95076	p.Leu168Val	RCV000004907	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064679G>C	ClinVar
ALX3	O95076	p.Leu168Val	rs121908167	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064679G>C	UniProt,dbSNP
ALX3	O95076	p.Leu168Val	VAR_063226	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064679G>C	UniProt
ALX3	O95076	p.Leu168Val	rs121908167	missense variant	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110064679G>C	gnomAD
ALX3	O95076	p.Glu169Gln	rs1284257489	missense variant	-	NC_000001.11:g.110064676C>G	TOPMed
ALX3	O95076	p.Lys170Asn	rs767866679	missense variant	-	NC_000001.11:g.110064671C>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Lys170Asn	rs767866679	missense variant	-	NC_000001.11:g.110064671C>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gln173Glu	rs1340121089	missense variant	-	NC_000001.11:g.110064664G>C	TOPMed
ALX3	O95076	p.Lys174Glu	rs762419542	missense variant	-	NC_000001.11:g.110064661T>C	ExAC,gnomAD
ALX3	O95076	p.Thr175Ile	rs1209517534	missense variant	-	NC_000001.11:g.110064657G>A	TOPMed
ALX3	O95076	p.His176Leu	rs751847093	missense variant	-	NC_000001.11:g.110064654T>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Tyr181Ter	RCV000004909	nonsense	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064638A>T	ClinVar
ALX3	O95076	p.Tyr181Ter	rs121908169	stop gained	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110064638A>T	TOPMed,gnomAD
ALX3	O95076	p.Arg183Leu	rs776355454	missense variant	-	NC_000001.11:g.110064633C>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg183Trp	RCV000004908	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064634G>A	ClinVar
ALX3	O95076	p.Arg183Gln	rs776355454	missense variant	-	NC_000001.11:g.110064633C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg183Trp	rs121908168	missense variant	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110064634G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg183Trp	rs121908168	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064634G>A	UniProt,dbSNP
ALX3	O95076	p.Arg183Trp	VAR_063227	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064634G>A	UniProt
ALX3	O95076	p.Arg189Cys	rs760056467	missense variant	-	NC_000001.11:g.110064616G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg189His	rs199983753	missense variant	-	NC_000001.11:g.110064615C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Asp191Gly	rs1293427085	missense variant	-	NC_000001.11:g.110064609T>C	gnomAD
ALX3	O95076	p.Leu192Met	rs1047196284	missense variant	-	NC_000001.11:g.110064607G>T	TOPMed,gnomAD
ALX3	O95076	p.Thr193Ter	RCV000004910	frameshift	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064600_110064603TCAG[1]	ClinVar
ALX3	O95076	p.Glu194Asp	rs771876784	missense variant	-	NC_000001.11:g.110064599C>G	ExAC
ALX3	O95076	p.Ala195Thr	rs1340833776	missense variant	-	NC_000001.11:g.110064598C>T	gnomAD
ALX3	O95076	p.Arg196Trp	rs121908170	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064595G>A	UniProt,dbSNP
ALX3	O95076	p.Arg196Trp	VAR_063228	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064595G>A	UniProt
ALX3	O95076	p.Arg196Trp	rs121908170	missense variant	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110064595G>A	1000Genomes,ExAC,gnomAD
ALX3	O95076	p.Arg196Trp	RCV000004911	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110064595G>A	ClinVar
ALX3	O95076	p.Trp200Ser	rs1226266345	missense variant	-	NC_000001.11:g.110061559C>G	TOPMed
ALX3	O95076	p.Asn203Ser	rs121908166	missense variant	Frontonasal dysplasia 1 (fnd1)	NC_000001.11:g.110061550T>C	-
ALX3	O95076	p.Asn203Ser	rs121908166	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110061550T>C	UniProt,dbSNP
ALX3	O95076	p.Asn203Ser	VAR_063229	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110061550T>C	UniProt
ALX3	O95076	p.Asn203Ser	RCV000004906	missense variant	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110061550T>C	ClinVar
ALX3	O95076	p.Arg204His	rs374651713	missense variant	-	NC_000001.11:g.110061547C>T	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg204Cys	rs1199055481	missense variant	-	NC_000001.11:g.110061548G>A	TOPMed,gnomAD
ALX3	O95076	p.Arg205Lys	rs705279	missense variant	-	NC_000001.11:g.110061544C>T	TOPMed
ALX3	O95076	p.Ala206Val	rs761654304	missense variant	-	NC_000001.11:g.110061541G>A	ExAC,gnomAD
ALX3	O95076	p.Lys207Arg	rs774210543	missense variant	-	NC_000001.11:g.110061538T>C	ExAC,gnomAD
ALX3	O95076	p.Arg209Trp	rs749039409	missense variant	-	NC_000001.11:g.110061533G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg209Gln	rs775299987	missense variant	-	NC_000001.11:g.110061532C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Lys210Arg	rs1411410627	missense variant	-	NC_000001.11:g.110061529T>C	TOPMed
ALX3	O95076	p.Arg211Ser	rs781127904	missense variant	-	NC_000001.11:g.110061527G>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg211Cys	rs781127904	missense variant	-	NC_000001.11:g.110061527G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg211His	rs757293052	missense variant	-	NC_000001.11:g.110061526C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Glu212Lys	rs778377987	missense variant	-	NC_000001.11:g.110061524C>T	ExAC,gnomAD
ALX3	O95076	p.Arg213His	rs150129126	missense variant	-	NC_000001.11:g.110061520C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg213Cys	rs759007659	missense variant	-	NC_000001.11:g.110061521G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly215Ala	rs201764848	missense variant	-	NC_000001.11:g.110061514C>G	1000Genomes
ALX3	O95076	p.Glu219Lys	rs1313405565	missense variant	-	NC_000001.11:g.110061503C>T	TOPMed
ALX3	O95076	p.Gly220Glu	rs1335385096	missense variant	-	NC_000001.11:g.110061499C>T	gnomAD
ALX3	O95076	p.Arg221Gln	rs375503292	missense variant	-	NC_000001.11:g.110061496C>T	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg221Trp	rs765747640	missense variant	-	NC_000001.11:g.110061497G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Asn222Ile	rs538430669	missense variant	-	NC_000001.11:g.110061493T>A	1000Genomes,ExAC,gnomAD
ALX3	O95076	p.Asn222Tyr	rs370985645	missense variant	-	NC_000001.11:g.110061494T>A	ESP
ALX3	O95076	p.Pro223Ser	rs761334835	missense variant	-	NC_000001.11:g.110061491G>A	ExAC
ALX3	O95076	p.Thr225Met	rs1159900506	missense variant	-	NC_000001.11:g.110061484G>A	gnomAD
ALX3	O95076	p.Ala226Val	rs140822231	missense variant	-	NC_000001.11:g.110061481G>A	ESP,ExAC,gnomAD
ALX3	O95076	p.Ala227Val	rs775250647	missense variant	-	NC_000001.11:g.110061478G>A	ExAC,gnomAD
ALX3	O95076	p.Tyr228His	rs769697275	missense variant	-	NC_000001.11:g.110061476A>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Tyr228Asn	rs769697275	missense variant	-	NC_000001.11:g.110061476A>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Tyr228Cys	rs745653169	missense variant	-	NC_000001.11:g.110061475T>C	ExAC,gnomAD
ALX3	O95076	p.Asp229Gly	rs771081739	missense variant	-	NC_000001.11:g.110061472T>C	ExAC,gnomAD
ALX3	O95076	p.Ile230Ser	rs199801560	missense variant	-	NC_000001.11:g.110061469A>C	1000Genomes,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Val232Met	rs778041172	missense variant	-	NC_000001.11:g.110061464C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg235His	rs199753639	missense variant	-	NC_000001.11:g.110061454C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg235Pro	rs199753639	missense variant	-	NC_000001.11:g.110061454C>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg235Gly	rs145535704	missense variant	-	NC_000001.11:g.110061455G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg235Cys	rs145535704	missense variant	-	NC_000001.11:g.110061455G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Asp237His	rs751044375	missense variant	-	NC_000001.11:g.110061449C>G	ExAC,gnomAD
ALX3	O95076	p.Ser238Asn	rs1382320668	missense variant	-	NC_000001.11:g.110061445C>T	gnomAD
ALX3	O95076	p.His239Tyr	rs1299720353	missense variant	-	NC_000001.11:g.110061443G>A	TOPMed,gnomAD
ALX3	O95076	p.Gln243Leu	rs1452315698	missense variant	-	NC_000001.11:g.110061037T>A	gnomAD
ALX3	O95076	p.Leu246Ter	RCV000677633	frameshift	Frontonasal dysplasia 1 (FND1)	NC_000001.11:g.110061028_110061029del	ClinVar
ALX3	O95076	p.Leu246Pro	rs769070620	missense variant	-	NC_000001.11:g.110061028A>G	ExAC,gnomAD
ALX3	O95076	p.Pro250Leu	rs751277589	missense variant	-	NC_000001.11:g.110061016G>A	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Pro250Ala	RCV000193142	missense variant	-	NC_000001.11:g.110061017G>C	ClinVar
ALX3	O95076	p.Pro250Ala	rs145995775	missense variant	-	NC_000001.11:g.110061017G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Pro250Ser	rs145995775	missense variant	-	NC_000001.11:g.110061017G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly251Glu	rs1331109420	missense variant	-	NC_000001.11:g.110061013C>T	gnomAD
ALX3	O95076	p.Gly251Arg	rs777405716	missense variant	-	NC_000001.11:g.110061014C>T	ExAC,gnomAD
ALX3	O95076	p.Ser252Pro	rs757845800	missense variant	-	NC_000001.11:g.110061011A>G	ExAC,gnomAD
ALX3	O95076	p.Ser252Tyr	rs1408091351	missense variant	-	NC_000001.11:g.110061010G>T	gnomAD
ALX3	O95076	p.Ser254Asn	rs1402434565	missense variant	-	NC_000001.11:g.110061004C>T	TOPMed,gnomAD
ALX3	O95076	p.Ser254Arg	rs752170553	missense variant	-	NC_000001.11:g.110061003G>T	ExAC,gnomAD
ALX3	O95076	p.Pro258Ala	rs958377466	missense variant	-	NC_000001.11:g.110060993G>C	TOPMed
ALX3	O95076	p.Cys259Arg	rs1427445118	missense variant	-	NC_000001.11:g.110060990A>G	gnomAD
ALX3	O95076	p.Val261Leu	rs535807605	missense variant	-	NC_000001.11:g.110060984C>A	1000Genomes,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Pro263Thr	rs1348561420	missense variant	-	NC_000001.11:g.110060978G>T	TOPMed
ALX3	O95076	p.Gly265Asp	rs1204331938	missense variant	-	NC_000001.11:g.110060971C>T	TOPMed
ALX3	O95076	p.Pro267Thr	rs759432791	missense variant	-	NC_000001.11:g.110060966G>T	ExAC,gnomAD
ALX3	O95076	p.Ser268Phe	rs753646963	missense variant	-	NC_000001.11:g.110060962G>A	ExAC,gnomAD
ALX3	O95076	p.Pro269Arg	rs766147329	missense variant	-	NC_000001.11:g.110060959G>C	ExAC,gnomAD
ALX3	O95076	p.Cys270Arg	rs760977295	missense variant	-	NC_000001.11:g.110060957A>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Cys270Gly	rs760977295	missense variant	-	NC_000001.11:g.110060957A>C	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Met271Ile	rs1043530442	missense variant	-	NC_000001.11:g.110060952C>T	TOPMed
ALX3	O95076	p.Tyr274Asn	rs773504281	missense variant	-	NC_000001.11:g.110060945A>T	ExAC,gnomAD
ALX3	O95076	p.His276Gln	rs772440892	missense variant	-	NC_000001.11:g.110060937G>T	ExAC,gnomAD
ALX3	O95076	p.Pro277Thr	rs189671232	missense variant	-	NC_000001.11:g.110060936G>T	1000Genomes,ExAC,gnomAD
ALX3	O95076	p.His278Gln	rs769180172	missense variant	-	NC_000001.11:g.110060931A>C	ExAC,gnomAD
ALX3	O95076	p.His278Pro	rs1332023787	missense variant	-	NC_000001.11:g.110060932T>G	gnomAD
ALX3	O95076	p.Gly279Arg	rs1403546626	missense variant	-	NC_000001.11:g.110060930C>T	gnomAD
ALX3	O95076	p.Ser280Arg	rs947709896	missense variant	-	NC_000001.11:g.110060925A>C	gnomAD
ALX3	O95076	p.Ala282Pro	rs775915786	missense variant	-	NC_000001.11:g.110060921C>G	ExAC,gnomAD
ALX3	O95076	p.Gly283Asp	rs1396050113	missense variant	-	NC_000001.11:g.110060917C>T	TOPMed
ALX3	O95076	p.Phe284Val	rs1449456071	missense variant	-	NC_000001.11:g.110060915A>C	TOPMed
ALX3	O95076	p.Met285Ile	rs770075558	missense variant	-	NC_000001.11:g.110060910C>T	ExAC,gnomAD
ALX3	O95076	p.Met285Thr	rs1156864404	missense variant	-	NC_000001.11:g.110060911A>G	gnomAD
ALX3	O95076	p.Gly286Ala	rs1239309424	missense variant	-	NC_000001.11:g.110060908C>G	TOPMed,gnomAD
ALX3	O95076	p.Gly286Glu	rs1239309424	missense variant	-	NC_000001.11:g.110060908C>T	TOPMed,gnomAD
ALX3	O95076	p.Val287Gly	rs746242886	missense variant	-	NC_000001.11:g.110060905A>C	ExAC,gnomAD
ALX3	O95076	p.Pro290Arg	rs372079233	missense variant	-	NC_000001.11:g.110060896G>C	gnomAD
ALX3	O95076	p.Ala292Val	rs145253023	missense variant	-	NC_000001.11:g.110060890G>A	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Pro295Leu	rs1322920301	missense variant	-	NC_000001.11:g.110060881G>A	TOPMed
ALX3	O95076	p.Gly296Ser	rs1283200830	missense variant	-	NC_000001.11:g.110060879C>T	gnomAD
ALX3	O95076	p.Gly296Asp	rs962176008	missense variant	-	NC_000001.11:g.110060878C>T	TOPMed,gnomAD
ALX3	O95076	p.Tyr298His	rs1443348208	missense variant	-	NC_000001.11:g.110060873A>G	TOPMed
ALX3	O95076	p.Tyr298Ter	rs778336298	stop gained	-	NC_000001.11:g.110060871G>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.His301Arg	rs754931220	missense variant	-	NC_000001.11:g.110060863T>C	ExAC,gnomAD
ALX3	O95076	p.Pro305Ser	rs1227310293	missense variant	-	NC_000001.11:g.110060852G>A	TOPMed
ALX3	O95076	p.Thr306Pro	rs755918125	missense variant	-	NC_000001.11:g.110060849T>G	ExAC,gnomAD
ALX3	O95076	p.Thr306Ala	rs755918125	missense variant	-	NC_000001.11:g.110060849T>C	ExAC,gnomAD
ALX3	O95076	p.Leu307Arg	rs1316578533	missense variant	-	NC_000001.11:g.110060845A>C	gnomAD
ALX3	O95076	p.Gly308Glu	rs767813698	missense variant	-	NC_000001.11:g.110060842C>T	ExAC,gnomAD
ALX3	O95076	p.Ser311Arg	rs1443298633	missense variant	-	NC_000001.11:g.110060832G>T	gnomAD
ALX3	O95076	p.Phe312Ser	rs774474483	missense variant	-	NC_000001.11:g.110060830A>G	ExAC,gnomAD
ALX3	O95076	p.Pro314Arg	rs1240732822	missense variant	-	NC_000001.11:g.110060824G>C	gnomAD
ALX3	O95076	p.Pro314His	rs1240732822	missense variant	-	NC_000001.11:g.110060824G>T	gnomAD
ALX3	O95076	p.Pro314Ser	rs760086926	missense variant	-	NC_000001.11:g.110060825G>A	ExAC,gnomAD
ALX3	O95076	p.Pro314Thr	rs760086926	missense variant	-	NC_000001.11:g.110060825G>T	ExAC,gnomAD
ALX3	O95076	p.Gly318Asp	rs551530170	missense variant	-	NC_000001.11:g.110060812C>T	1000Genomes,ExAC,gnomAD
ALX3	O95076	p.Asp319Gly	rs1336290376	missense variant	-	NC_000001.11:g.110060809T>C	gnomAD
ALX3	O95076	p.Tyr320Cys	rs376262878	missense variant	-	NC_000001.11:g.110060806T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Tyr320Phe	rs376262878	missense variant	-	NC_000001.11:g.110060806T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Ser324Cys	rs1228665539	missense variant	-	NC_000001.11:g.110060795T>A	gnomAD
ALX3	O95076	p.Val326Ile	rs747814890	missense variant	-	NC_000001.11:g.110060789C>T	ExAC,gnomAD
ALX3	O95076	p.Val326Ala	rs373342900	missense variant	-	NC_000001.11:g.110060788A>G	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Arg329Ser	rs780095146	missense variant	-	NC_000001.11:g.110060778C>G	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Val330Ile	rs756156186	missense variant	-	NC_000001.11:g.110060777C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Lys331Asn	rs1162784148	missense variant	-	NC_000001.11:g.110060772C>G	TOPMed
ALX3	O95076	p.Pro332Ser	rs1415750729	missense variant	-	NC_000001.11:g.110060771G>A	TOPMed
ALX3	O95076	p.Lys333Thr	rs141042736	missense variant	-	NC_000001.11:g.110060767T>G	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Lys333Glu	rs757495070	missense variant	-	NC_000001.11:g.110060768T>C	ExAC,gnomAD
ALX3	O95076	p.Pro335Leu	rs369347396	missense variant	-	NC_000001.11:g.110060761G>A	ESP,ExAC,TOPMed,gnomAD
ALX3	O95076	p.Gly337Ser	rs775577933	missense variant	-	NC_000001.11:g.110060756C>T	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Trp341Ter	rs201913545	stop gained	-	NC_000001.11:g.110060743C>T	1000Genomes
ALX3	O95076	p.Thr342Ser	rs765702189	missense variant	-	NC_000001.11:g.110060740G>C	ExAC,TOPMed,gnomAD
ALX3	O95076	p.Thr343Lys	rs776967754	missense variant	-	NC_000001.11:g.110060737G>T	ExAC,gnomAD
ALX3	O95076	p.Thr343Met	rs776967754	missense variant	-	NC_000001.11:g.110060737G>A	ExAC,gnomAD
SIX3	O95343	p.Met1Val	RCV000599004	missense variant	-	NC_000002.12:g.44942105A>G	ClinVar
SIX3	O95343	p.Val2Ile	rs766767053	missense variant	-	NC_000002.12:g.44942108G>A	ExAC,gnomAD
SIX3	O95343	p.Arg4His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942115G>A	NCI-TCGA
SIX3	O95343	p.Ser5Phe	rs775115929	missense variant	-	NC_000002.12:g.44942118C>T	ExAC,gnomAD
SIX3	O95343	p.Ser5Tyr	rs775115929	missense variant	-	NC_000002.12:g.44942118C>A	ExAC,gnomAD
SIX3	O95343	p.Ser5Cys	rs775115929	missense variant	-	NC_000002.12:g.44942118C>G	ExAC,gnomAD
SIX3	O95343	p.Pro6Leu	rs528794855	missense variant	-	NC_000002.12:g.44942121C>T	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Pro6Arg	rs528794855	missense variant	-	NC_000002.12:g.44942121C>G	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Leu7Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.44942118C>-	NCI-TCGA
SIX3	O95343	p.Leu7Ile	rs1490771348	missense variant	-	NC_000002.12:g.44942123C>A	gnomAD
SIX3	O95343	p.Asp8Glu	rs756113841	missense variant	-	NC_000002.12:g.44942128C>A	ExAC,gnomAD
SIX3	O95343	p.Leu9Val	rs779829905	missense variant	-	NC_000002.12:g.44942129C>G	ExAC,gnomAD
SIX3	O95343	p.Leu9Pro	rs1479578284	missense variant	-	NC_000002.12:g.44942130T>C	gnomAD
SIX3	O95343	p.Ser12Thr	rs749405556	missense variant	-	NC_000002.12:g.44942138T>A	ExAC,gnomAD
SIX3	O95343	p.His13Tyr	rs1443510881	missense variant	-	NC_000002.12:g.44942141C>T	gnomAD
SIX3	O95343	p.His13Arg	rs1410141912	missense variant	-	NC_000002.12:g.44942142A>G	TOPMed
SIX3	O95343	p.Phe14Leu	rs772181424	missense variant	-	NC_000002.12:g.44942146C>G	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Phe14Cys	rs748430037	missense variant	-	NC_000002.12:g.44942145T>G	ExAC,gnomAD
SIX3	O95343	p.Leu15Phe	rs773668631	missense variant	-	NC_000002.12:g.44942149G>T	ExAC,gnomAD
SIX3	O95343	p.Pro17Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942153C>A	NCI-TCGA
SIX3	O95343	p.Asn18Lys	COSM1021108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942158C>A	NCI-TCGA Cosmic
SIX3	O95343	p.Asn18Asp	rs551637040	missense variant	-	NC_000002.12:g.44942156A>G	1000Genomes,TOPMed
SIX3	O95343	p.Asn18Tyr	rs551637040	missense variant	-	NC_000002.12:g.44942156A>T	1000Genomes,TOPMed
SIX3	O95343	p.Asn18Lys	rs199595730	missense variant	-	NC_000002.12:g.44942158C>G	TOPMed,gnomAD
SIX3	O95343	p.Ala20Ser	rs200575650	missense variant	-	NC_000002.12:g.44942162G>T	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Asp21Asn	COSM1240203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942165G>A	NCI-TCGA Cosmic
SIX3	O95343	p.Asp21Tyr	rs537643024	missense variant	-	NC_000002.12:g.44942165G>T	1000Genomes,ExAC,gnomAD
SIX3	O95343	p.His24Gln	rs968579804	missense variant	-	NC_000002.12:g.44942176C>G	TOPMed,gnomAD
SIX3	O95343	p.Arg25Cys	rs1269327293	missense variant	-	NC_000002.12:g.44942177C>T	TOPMed
SIX3	O95343	p.Ser26LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.44942178_44942179insT	NCI-TCGA
SIX3	O95343	p.Ile27Thr	rs1305570509	missense variant	-	NC_000002.12:g.44942184T>C	gnomAD
SIX3	O95343	p.Ile27Met	rs761622084	missense variant	-	NC_000002.12:g.44942185A>G	ExAC,gnomAD
SIX3	O95343	p.Ile27Val	rs773982749	missense variant	-	NC_000002.12:g.44942183A>G	ExAC,gnomAD
SIX3	O95343	p.Leu29Pro	rs181010373	missense variant	-	NC_000002.12:g.44942190T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ser31Arg	rs536278475	missense variant	-	NC_000002.12:g.44942195A>C	1000Genomes
SIX3	O95343	p.Ser32Asn	COSM4094353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942199G>A	NCI-TCGA Cosmic
SIX3	O95343	p.Gly33Cys	rs753721024	missense variant	-	NC_000002.12:g.44942201G>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly33Asp	rs754899804	missense variant	-	NC_000002.12:g.44942202G>A	ExAC,gnomAD
SIX3	O95343	p.Gly33Ser	rs753721024	missense variant	-	NC_000002.12:g.44942201G>A	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly34Arg	rs1401728465	missense variant	-	NC_000002.12:g.44942204G>C	gnomAD
SIX3	O95343	p.Gly35Arg	rs1018692851	missense variant	-	NC_000002.12:g.44942207G>C	TOPMed,gnomAD
SIX3	O95343	p.Gly35Arg	rs1018692851	missense variant	-	NC_000002.12:g.44942207G>A	TOPMed,gnomAD
SIX3	O95343	p.Gly37Cys	rs199823175	missense variant	-	NC_000002.12:g.44942213G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly37Cys	rs199823175	missense variant	Holoprosencephaly 2 (hpe2)	NC_000002.12:g.44942213G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly37Cys	rs199823175	missense variant	-	NC_000002.12:g.44942213G>T	UniProt,dbSNP
SIX3	O95343	p.Gly37Cys	VAR_071335	missense variant	-	NC_000002.12:g.44942213G>T	UniProt
SIX3	O95343	p.Gly37Cys	RCV000713302	missense variant	-	NC_000002.12:g.44942213G>T	ClinVar
SIX3	O95343	p.Ala38Val	rs777810054	missense variant	-	NC_000002.12:g.44942217C>T	ExAC,gnomAD
SIX3	O95343	p.Gly40Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942222G>T	NCI-TCGA
SIX3	O95343	p.Gly42Arg	rs1216159686	missense variant	-	NC_000002.12:g.44942228G>C	gnomAD
SIX3	O95343	p.Gly43Cys	RCV000594169	missense variant	-	NC_000002.12:g.44942231G>T	ClinVar
SIX3	O95343	p.Gly43Cys	RCV000764416	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942231G>T	ClinVar
SIX3	O95343	p.Gly43Cys	rs1436891421	missense variant	-	NC_000002.12:g.44942231G>T	TOPMed,gnomAD
SIX3	O95343	p.Gly45Glu	rs920270639	missense variant	-	NC_000002.12:g.44942238G>A	TOPMed
SIX3	O95343	p.Ser48Gly	rs771134581	missense variant	-	NC_000002.12:g.44942246A>G	ExAC,gnomAD
SIX3	O95343	p.Gly49Asp	rs1264399264	missense variant	-	NC_000002.12:g.44942250G>A	gnomAD
SIX3	O95343	p.Gly50Ser	rs1191977510	missense variant	-	NC_000002.12:g.44942252G>A	TOPMed,gnomAD
SIX3	O95343	p.Gly50Val	rs777289787	missense variant	-	NC_000002.12:g.44942253G>T	ExAC,gnomAD
SIX3	O95343	p.Gly50Arg	rs1191977510	missense variant	-	NC_000002.12:g.44942252G>C	TOPMed,gnomAD
SIX3	O95343	p.Gly51Arg	rs558809633	missense variant	-	NC_000002.12:g.44942255G>C	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly51Trp	rs558809633	missense variant	-	NC_000002.12:g.44942255G>T	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly51Arg	rs558809633	missense variant	-	NC_000002.12:g.44942255G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly51Glu	rs770418171	missense variant	-	NC_000002.12:g.44942256G>A	ExAC,gnomAD
SIX3	O95343	p.Gly53Cys	rs761202592	missense variant	-	NC_000002.12:g.44942261G>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly53Ala	rs771774953	missense variant	-	NC_000002.12:g.44942262G>C	ExAC,gnomAD
SIX3	O95343	p.Gly53Arg	rs761202592	missense variant	-	NC_000002.12:g.44942261G>C	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ala54Glu	rs1321033933	missense variant	-	NC_000002.12:g.44942265C>A	TOPMed
SIX3	O95343	p.Gly55Glu	rs772677168	missense variant	-	NC_000002.12:g.44942268G>A	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly55Arg	rs1386445319	missense variant	-	NC_000002.12:g.44942267G>C	TOPMed
SIX3	O95343	p.Gly57Cys	RCV000656534	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942273G>T	ClinVar
SIX3	O95343	p.Gly57Cys	rs1344650194	missense variant	-	NC_000002.12:g.44942273G>T	gnomAD
SIX3	O95343	p.Gly58Cys	rs753628024	missense variant	-	NC_000002.12:g.44942276G>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly61Glu	rs1281686738	missense variant	-	NC_000002.12:g.44942286G>A	gnomAD
SIX3	O95343	p.Gly61Ter	rs575387114	stop gained	-	NC_000002.12:g.44942285G>T	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly61Arg	rs575387114	missense variant	-	NC_000002.12:g.44942285G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ala62Thr	rs1448442591	missense variant	-	NC_000002.12:g.44942288G>A	gnomAD
SIX3	O95343	p.Ala62Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942288G>T	NCI-TCGA
SIX3	O95343	p.Gly63Asp	rs1216076593	missense variant	-	NC_000002.12:g.44942292G>A	gnomAD
SIX3	O95343	p.Gly63Ala	rs1216076593	missense variant	-	NC_000002.12:g.44942292G>C	gnomAD
SIX3	O95343	p.Gly64Asp	rs752797098	missense variant	-	NC_000002.12:g.44942295G>A	ExAC,gnomAD
SIX3	O95343	p.Gly66Ser	rs778060809	missense variant	-	NC_000002.12:g.44942300G>A	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly67Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942303G>T	NCI-TCGA
SIX3	O95343	p.Gly69Asp	RCV000812876	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942310G>A	ClinVar
SIX3	O95343	p.Gly69Asp	rs121917881	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942310G>A	UniProt,dbSNP
SIX3	O95343	p.Gly69Asp	VAR_038418	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942310G>A	UniProt
SIX3	O95343	p.Gly69Asp	rs121917881	missense variant	Holoprosencephaly 2 (hpe2)	NC_000002.12:g.44942310G>A	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ser70Pro	rs1314811261	missense variant	-	NC_000002.12:g.44942312T>C	TOPMed
SIX3	O95343	p.Arg71Ser	rs1402606672	missense variant	-	NC_000002.12:g.44942317G>T	gnomAD
SIX3	O95343	p.Arg71Lys	rs1382884542	missense variant	-	NC_000002.12:g.44942316G>A	gnomAD
SIX3	O95343	p.Ala72Ser	rs757487016	missense variant	-	NC_000002.12:g.44942318G>T	ExAC,gnomAD
SIX3	O95343	p.Ala72Val	rs781731500	missense variant	-	NC_000002.12:g.44942319C>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Pro73Thr	rs889069929	missense variant	-	NC_000002.12:g.44942321C>A	TOPMed,gnomAD
SIX3	O95343	p.Pro73Ser	rs889069929	missense variant	-	NC_000002.12:g.44942321C>T	TOPMed,gnomAD
SIX3	O95343	p.Pro74Ser	rs747721596	missense variant	-	NC_000002.12:g.44942324C>T	ExAC,gnomAD
SIX3	O95343	p.Pro74Arg	rs771429347	missense variant	-	NC_000002.12:g.44942325C>G	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Pro74Leu	rs771429347	missense variant	-	NC_000002.12:g.44942325C>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Pro74ArgPheSerTerUnkUnkUnk	rs763853335	frameshift	-	NC_000002.12:g.44942319C>-	NCI-TCGA,NCI-TCGA Cosmic
SIX3	O95343	p.Glu76Asp	rs776461044	missense variant	-	NC_000002.12:g.44942332G>C	ExAC,gnomAD
SIX3	O95343	p.Glu76Ter	rs760315707	stop gained	-	NC_000002.12:g.44942330G>T	ExAC
SIX3	O95343	p.Glu76Val	rs770543339	missense variant	-	NC_000002.12:g.44942331A>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Leu77Val	rs893527638	missense variant	-	NC_000002.12:g.44942333T>G	gnomAD
SIX3	O95343	p.Ser78Phe	rs1290628704	missense variant	-	NC_000002.12:g.44942337C>T	gnomAD
SIX3	O95343	p.Met79Val	VAR_071336	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Phe80Leu	rs759280002	missense variant	-	NC_000002.12:g.44942344C>G	ExAC,gnomAD
SIX3	O95343	p.Leu85Val	rs763108303	missense variant	-	NC_000002.12:g.44942357C>G	ExAC,gnomAD
SIX3	O95343	p.Ser88Leu	rs533412798	missense variant	-	NC_000002.12:g.44942367C>T	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Val92Gly	VAR_023797	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Ala93Val	rs751652441	missense variant	-	NC_000002.12:g.44942382C>T	ExAC,gnomAD
SIX3	O95343	p.Ala93Asp	VAR_071337	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Cys96Ser	rs757457966	missense variant	-	NC_000002.12:g.44942391G>C	ExAC,gnomAD
SIX3	O95343	p.Cys96Ter	rs1553337648	stop gained	-	NC_000002.12:g.44942392T>A	-
SIX3	O95343	p.Cys96Ter	RCV000578945	nonsense	-	NC_000002.12:g.44942392T>A	ClinVar
SIX3	O95343	p.Thr98Met	rs1304803510	missense variant	-	NC_000002.12:g.44942397C>T	gnomAD
SIX3	O95343	p.Gly103Arg	rs1326804162	missense variant	-	NC_000002.12:g.44942411G>C	TOPMed,gnomAD
SIX3	O95343	p.Asp104Asn	rs1197341218	missense variant	-	NC_000002.12:g.44942414G>A	TOPMed,gnomAD
SIX3	O95343	p.Ile105Met	COSM6158558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942419C>G	NCI-TCGA Cosmic
SIX3	O95343	p.Ile105Val	VAR_023798	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Glu106Asp	rs1336980946	missense variant	-	NC_000002.12:g.44942422G>C	TOPMed,gnomAD
SIX3	O95343	p.Arg110His	rs1267045983	missense variant	-	NC_000002.12:g.44942433G>A	TOPMed
SIX3	O95343	p.Trp113Cys	rs137853021	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942443G>T	UniProt,dbSNP
SIX3	O95343	p.Trp113Cys	VAR_071338	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942443G>T	UniProt
SIX3	O95343	p.Trp113Cys	rs137853021	missense variant	Holoprosencephaly 2 (hpe2)	NC_000002.12:g.44942443G>T	-
SIX3	O95343	p.Trp113Cys	RCV000506131	missense variant	-	NC_000002.12:g.44942443G>T	ClinVar
SIX3	O95343	p.Trp113Cys	RCV000006472	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942443G>T	ClinVar
SIX3	O95343	p.Ser114Leu	COSM4094357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942445C>T	NCI-TCGA Cosmic
SIX3	O95343	p.Ser114Leu	VAR_071339	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Val117Leu	rs1267545533	missense variant	-	NC_000002.12:g.44942453G>C	gnomAD
SIX3	O95343	p.Ala121Glu	rs1195691730	missense variant	-	NC_000002.12:g.44942466C>A	TOPMed,gnomAD
SIX3	O95343	p.Ala121Val	rs1195691730	missense variant	-	NC_000002.12:g.44942466C>T	TOPMed,gnomAD
SIX3	O95343	p.Ala121Ter	RCV000351427	frameshift	-	NC_000002.12:g.44942461del	ClinVar
SIX3	O95343	p.Glu123Lys	rs746508020	missense variant	-	NC_000002.12:g.44942471G>A	ExAC,gnomAD
SIX3	O95343	p.Ala124Thr	rs1242759851	missense variant	-	NC_000002.12:g.44942474G>A	gnomAD
SIX3	O95343	p.Ile125Thr	COSM721772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942478T>C	NCI-TCGA Cosmic
SIX3	O95343	p.Lys127Gln	rs372100479	missense variant	-	NC_000002.12:g.44942483A>C	ESP
SIX3	O95343	p.Glu129Ter	RCV000023328	nonsense	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942489G>T	ClinVar
SIX3	O95343	p.Glu129Ter	rs387906867	stop gained	Holoprosencephaly 2 (hpe2)	NC_000002.12:g.44942489G>T	-
SIX3	O95343	p.Glu129Ter	RCV000023329	nonsense	SCHIZENCEPHALY	NC_000002.12:g.44942489G>T	ClinVar
SIX3	O95343	p.Arg133Ser	rs914092830	missense variant	-	NC_000002.12:g.44942501C>A	TOPMed
SIX3	O95343	p.Ala134Gly	rs1335408489	missense variant	-	NC_000002.12:g.44942505C>G	gnomAD
SIX3	O95343	p.Ala134Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942505C>T	NCI-TCGA
SIX3	O95343	p.Ala134Ser	rs775341543	missense variant	-	NC_000002.12:g.44942504G>T	ExAC,gnomAD
SIX3	O95343	p.Arg135His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942508G>A	NCI-TCGA
SIX3	O95343	p.Arg135Gly	rs1379956535	missense variant	-	NC_000002.12:g.44942507C>G	gnomAD
SIX3	O95343	p.Ala136Ser	rs762864110	missense variant	-	NC_000002.12:g.44942510G>T	ExAC
SIX3	O95343	p.Ala136Ter	RCV000520730	frameshift	-	NC_000002.12:g.44942500_44942501GC[5]	ClinVar
SIX3	O95343	p.Ala136ArgPheSerTerUnkUnk	rs753473749	frameshift	-	NC_000002.12:g.44942500_44942501GC>-	NCI-TCGA,NCI-TCGA Cosmic
SIX3	O95343	p.Val137Ter	RCV000006470	frameshift	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942500_44942501GC[7]	ClinVar
SIX3	O95343	p.Val138Asp	VAR_071340	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Ala139Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942519G>A	NCI-TCGA
SIX3	O95343	p.Thr142Met	rs1250116628	missense variant	-	NC_000002.12:g.44942529C>T	gnomAD
SIX3	O95343	p.Gly143Asp	rs761932777	missense variant	-	NC_000002.12:g.44942532G>A	ExAC,gnomAD
SIX3	O95343	p.Asn144Asp	rs1460056891	missense variant	-	NC_000002.12:g.44942534A>G	gnomAD
SIX3	O95343	p.Arg146Cys	rs756395470	missense variant	-	NC_000002.12:g.44942540C>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Arg146Leu	rs766724439	missense variant	-	NC_000002.12:g.44942541G>T	ExAC
SIX3	O95343	p.Asp147Asn	rs1427686682	missense variant	-	NC_000002.12:g.44942543G>A	gnomAD
SIX3	O95343	p.Leu148Ter	RCV000656533	frameshift	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942545_44942555del	ClinVar
SIX3	O95343	p.Leu148Phe	rs754202682	missense variant	-	NC_000002.12:g.44942546C>T	ExAC,gnomAD
SIX3	O95343	p.Ile151Val	rs1403214451	missense variant	-	NC_000002.12:g.44942555A>G	gnomAD
SIX3	O95343	p.Leu152His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942559T>A	NCI-TCGA
SIX3	O95343	p.Glu153Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942562A>G	NCI-TCGA
SIX3	O95343	p.His155del	VAR_071341	inframe_deletion	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Lys156Thr	rs1303045479	missense variant	-	NC_000002.12:g.44942571A>C	gnomAD
SIX3	O95343	p.Phe157Ile	VAR_071342	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.His162Tyr	COSM1306821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942588C>T	NCI-TCGA Cosmic
SIX3	O95343	p.His162Gln	rs746533848	missense variant	-	NC_000002.12:g.44942590C>A	ExAC,gnomAD
SIX3	O95343	p.Gly163Val	rs756689465	missense variant	-	NC_000002.12:g.44942592G>T	ExAC,gnomAD
SIX3	O95343	p.Gly163Asp	rs756689465	missense variant	-	NC_000002.12:g.44942592G>A	ExAC,gnomAD
SIX3	O95343	p.Ala167Gly	rs745577214	missense variant	-	NC_000002.12:g.44942604C>G	ExAC,gnomAD
SIX3	O95343	p.Ala167Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942604C>A	NCI-TCGA
SIX3	O95343	p.Ala167Ser	RCV000023332	missense variant	SCHIZENCEPHALY	NC_000002.12:g.44942603G>T	ClinVar
SIX3	O95343	p.Ala167Ser	rs387906868	missense variant	-	NC_000002.12:g.44942603G>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ala167Ser	rs387906868	missense variant	Schizencephaly (SCHZC)	NC_000002.12:g.44942603G>T	UniProt,dbSNP
SIX3	O95343	p.Ala167Ser	VAR_071343	missense variant	Schizencephaly (SCHZC)	NC_000002.12:g.44942603G>T	UniProt
SIX3	O95343	p.Trp169Ter	RCV000702708	nonsense	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942611G>A	ClinVar
SIX3	O95343	p.Glu171Gln	rs769431310	missense variant	-	NC_000002.12:g.44942615G>C	ExAC,gnomAD
SIX3	O95343	p.Ala172Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942618G>A	NCI-TCGA
SIX3	O95343	p.Ala172Val	VAR_071344	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.His173Pro	VAR_023799	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Tyr174His	VAR_071345	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Glu176Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942630G>A	NCI-TCGA
SIX3	O95343	p.Ala177Val	rs768497950	missense variant	-	NC_000002.12:g.44942634C>T	ExAC,gnomAD
SIX3	O95343	p.Ala177Asp	rs768497950	missense variant	-	NC_000002.12:g.44942634C>A	ExAC,gnomAD
SIX3	O95343	p.Arg181His	rs1434383417	missense variant	-	NC_000002.12:g.44942646G>A	gnomAD
SIX3	O95343	p.Gly182Cys	rs1176239877	missense variant	-	NC_000002.12:g.44942648G>T	gnomAD
SIX3	O95343	p.Pro184Leu	rs1362713577	missense variant	-	NC_000002.12:g.44942655C>T	gnomAD
SIX3	O95343	p.Gly186Cys	rs773424856	missense variant	-	NC_000002.12:g.44942660G>T	ExAC,gnomAD
SIX3	O95343	p.Gly186Ser	rs773424856	missense variant	-	NC_000002.12:g.44942660G>A	ExAC,gnomAD
SIX3	O95343	p.Pro187Ala	rs761021058	missense variant	-	NC_000002.12:g.44942663C>G	ExAC,gnomAD
SIX3	O95343	p.Asp189Gly	rs1221436387	missense variant	-	NC_000002.12:g.44942670A>G	gnomAD
SIX3	O95343	p.Val193Met	rs1288474418	missense variant	-	NC_000002.12:g.44942681G>A	gnomAD
SIX3	O95343	p.Arg194Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942685G>T	NCI-TCGA
SIX3	O95343	p.Arg194His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942685G>A	NCI-TCGA
SIX3	O95343	p.Arg194Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942684C>A	NCI-TCGA
SIX3	O95343	p.Lys196Met	rs1157864629	missense variant	-	NC_000002.12:g.44942691A>T	TOPMed
SIX3	O95343	p.Pro198Leu	rs1221543535	missense variant	-	NC_000002.12:g.44942697C>T	gnomAD
SIX3	O95343	p.Leu199Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942699C>A	NCI-TCGA
SIX3	O95343	p.Arg201His	rs1553337714	missense variant	-	NC_000002.12:g.44942706G>A	-
SIX3	O95343	p.Arg201Cys	COSM5955061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942705C>T	NCI-TCGA Cosmic
SIX3	O95343	p.Arg201His	RCV000658046	missense variant	-	NC_000002.12:g.44942706G>A	ClinVar
SIX3	O95343	p.Thr202Ile	VAR_023800	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Asp205His	RCV000269190	missense variant	-	NC_000002.12:g.44942717G>C	ClinVar
SIX3	O95343	p.Asp205His	rs886044000	missense variant	-	NC_000002.12:g.44942717G>C	TOPMed
SIX3	O95343	p.Gly206Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942720G>A	NCI-TCGA
SIX3	O95343	p.Glu207Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942723G>A	NCI-TCGA
SIX3	O95343	p.Gln208Lys	rs1380586263	missense variant	-	NC_000002.12:g.44942726C>A	gnomAD
SIX3	O95343	p.Thr210Lys	rs780746878	missense variant	-	NC_000002.12:g.44942733C>A	ExAC,gnomAD
SIX3	O95343	p.Phe213Val	VAR_071346	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Lys214Arg	rs779704824	missense variant	-	NC_000002.12:g.44942745A>G	ExAC,gnomAD
SIX3	O95343	p.Arg216Gln	rs768427864	missense variant	-	NC_000002.12:g.44942751G>A	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Thr217Ile	rs1389795579	missense variant	-	NC_000002.12:g.44942754C>T	gnomAD
SIX3	O95343	p.Arg218Gln	rs1311723501	missense variant	-	NC_000002.12:g.44942757G>A	gnomAD
SIX3	O95343	p.Arg218Trp	VAR_071348	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Arg218Pro	VAR_071347	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Arg222Trp	rs748952099	missense variant	-	NC_000002.12:g.44942768C>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Glu223Gln	COSM721771	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942771G>C	NCI-TCGA Cosmic
SIX3	O95343	p.Glu223Ter	COSM3839583	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.44942771G>T	NCI-TCGA Cosmic
SIX3	O95343	p.Leu226Val	RCV000006466	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942780C>G	ClinVar
SIX3	O95343	p.Leu226Val	rs121917878	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942780C>G	UniProt,dbSNP
SIX3	O95343	p.Leu226Val	VAR_003771	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942780C>G	UniProt
SIX3	O95343	p.Leu226Val	rs121917878	missense variant	Holoprosencephaly 2 (hpe2)	NC_000002.12:g.44942780C>G	-
SIX3	O95343	p.Gln227Pro	VAR_071349	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Pro231Ser	rs1479362407	missense variant	-	NC_000002.12:g.44942795C>T	gnomAD
SIX3	O95343	p.Pro231Arg	VAR_023801	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Asn232Ter	RCV000055688	frameshift	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942800_44942809del	ClinVar
SIX3	O95343	p.Arg237His	COSM4624809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942814G>A	NCI-TCGA Cosmic
SIX3	O95343	p.Glu238Lys	rs753054738	missense variant	-	NC_000002.12:g.44942816G>A	ExAC,gnomAD
SIX3	O95343	p.Leu239Met	rs763491194	missense variant	-	NC_000002.12:g.44942819C>A	ExAC,gnomAD
SIX3	O95343	p.Ala240Val	rs1412023322	missense variant	-	NC_000002.12:g.44942823C>T	gnomAD
SIX3	O95343	p.Gly244Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942834G>A	NCI-TCGA
SIX3	O95343	p.Thr248Ile	rs966396323	missense variant	-	NC_000002.12:g.44942847C>T	gnomAD
SIX3	O95343	p.Val250Ala	RCV000006468	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942853T>C	ClinVar
SIX3	O95343	p.Val250Ala	rs121917880	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942853T>C	UniProt,dbSNP
SIX3	O95343	p.Val250Ala	VAR_003772	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942853T>C	UniProt
SIX3	O95343	p.Val250Ala	rs121917880	missense variant	Holoprosencephaly 2 (hpe2)	NC_000002.12:g.44942853T>C	-
SIX3	O95343	p.Trp253TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.44942861_44942862insATCAACAAACACGAGTCGATCCTGC	NCI-TCGA
SIX3	O95343	p.Phe254Leu	VAR_071351	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Arg257Pro	RCV000006467	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942874G>C	ClinVar
SIX3	O95343	p.Arg257Pro	rs121917879	missense variant	Holoprosencephaly 2 (hpe2)	NC_000002.12:g.44942874G>C	-
SIX3	O95343	p.Arg257Pro	rs121917879	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942874G>C	UniProt,dbSNP
SIX3	O95343	p.Arg257Pro	VAR_003773	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44942874G>C	UniProt
SIX3	O95343	p.Arg257Trp	VAR_023802	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Arg257Gly	VAR_071352	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Arg258Leu	VAR_071353	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Gln259His	RCV000489818	missense variant	-	NC_000002.12:g.44942881G>T	ClinVar
SIX3	O95343	p.Gln259His	rs1085307513	missense variant	-	NC_000002.12:g.44942881G>T	-
SIX3	O95343	p.Arg260Cys	rs1228726729	missense variant	-	NC_000002.12:g.44942882C>T	gnomAD
SIX3	O95343	p.Asp261Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942885G>T	NCI-TCGA
SIX3	O95343	p.Arg262His	COSM4094361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942889G>A	NCI-TCGA Cosmic
SIX3	O95343	p.Arg262His	VAR_071354	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Ala263Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942891G>A	NCI-TCGA
SIX3	O95343	p.Ala264Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44942894G>A	NCI-TCGA
SIX3	O95343	p.Ala266Thr	rs1460508805	missense variant	-	NC_000002.12:g.44942900G>A	gnomAD
SIX3	O95343	p.Arg269Met	COSM4094362	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44942910G>T	NCI-TCGA Cosmic
SIX3	O95343	p.Arg269Met	VAR_071355	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Arg269Thr	VAR_071357	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Arg269Ser	VAR_071356	Missense	Holoprosencephaly 2 (HPE2) [MIM:157170]	-	UniProt
SIX3	O95343	p.Leu270Ile	rs906435288	missense variant	-	NC_000002.12:g.44944569C>A	TOPMed,gnomAD
SIX3	O95343	p.Leu270Phe	rs906435288	missense variant	-	NC_000002.12:g.44944569C>T	TOPMed,gnomAD
SIX3	O95343	p.His272Tyr	rs1344878849	missense variant	-	NC_000002.12:g.44944575C>T	gnomAD
SIX3	O95343	p.His272Asn	rs1344878849	missense variant	-	NC_000002.12:g.44944575C>A	gnomAD
SIX3	O95343	p.Ile275Val	rs373028825	missense variant	-	NC_000002.12:g.44944584A>G	ESP,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ile275Thr	rs377320521	missense variant	-	NC_000002.12:g.44944585T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ile275Thr	RCV000514708	missense variant	-	NC_000002.12:g.44944585T>C	ClinVar
SIX3	O95343	p.Gly276Glu	rs1345139300	missense variant	-	NC_000002.12:g.44944588G>A	gnomAD
SIX3	O95343	p.Pro277Gln	rs575632344	missense variant	-	NC_000002.12:g.44944591C>A	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Pro277Leu	rs575632344	missense variant	-	NC_000002.12:g.44944591C>T	1000Genomes,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ser278Asn	rs1219329090	missense variant	-	NC_000002.12:g.44944594G>A	gnomAD
SIX3	O95343	p.Gly279Cys	rs1264530554	missense variant	-	NC_000002.12:g.44944596G>T	TOPMed,gnomAD
SIX3	O95343	p.Met280Ile	rs1275748806	missense variant	-	NC_000002.12:g.44944601G>A	TOPMed
SIX3	O95343	p.Arg281Pro	rs774682149	missense variant	-	NC_000002.12:g.44944603G>C	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Arg281Ser	rs1197394985	missense variant	-	NC_000002.12:g.44944602C>A	gnomAD
SIX3	O95343	p.Arg281Cys	rs1197394985	missense variant	-	NC_000002.12:g.44944602C>T	gnomAD
SIX3	O95343	p.Arg281Leu	rs774682149	missense variant	-	NC_000002.12:g.44944603G>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Leu283Pro	rs1378761400	missense variant	-	NC_000002.12:g.44944609T>C	gnomAD
SIX3	O95343	p.Ala284Pro	rs767891049	missense variant	-	NC_000002.12:g.44944611G>C	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ala284Asp	rs776232356	missense variant	-	NC_000002.12:g.44944612C>A	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ala284Thr	rs767891049	missense variant	-	NC_000002.12:g.44944611G>A	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ala284Gly	rs776232356	missense variant	-	NC_000002.12:g.44944612C>G	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Glu285Lys	rs1384959715	missense variant	-	NC_000002.12:g.44944614G>A	TOPMed,gnomAD
SIX3	O95343	p.Glu285Asp	rs758933447	missense variant	-	NC_000002.12:g.44944616G>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly287Ser	rs1440905862	missense variant	-	NC_000002.12:g.44944620G>A	gnomAD
SIX3	O95343	p.Gly287Asp	rs1306618159	missense variant	-	NC_000002.12:g.44944621G>A	gnomAD
SIX3	O95343	p.Cys288Arg	rs1355497595	missense variant	-	NC_000002.12:g.44944623T>C	gnomAD
SIX3	O95343	p.Cys288Tyr	rs1240433838	missense variant	-	NC_000002.12:g.44944624G>A	gnomAD
SIX3	O95343	p.Pro289Leu	rs1287126535	missense variant	-	NC_000002.12:g.44944627C>T	gnomAD
SIX3	O95343	p.Pro289Thr	rs1357166419	missense variant	-	NC_000002.12:g.44944626C>A	TOPMed
SIX3	O95343	p.Thr290Lys	rs1460399712	missense variant	-	NC_000002.12:g.44944630C>A	gnomAD
SIX3	O95343	p.Gly292Val	rs1330614232	missense variant	-	NC_000002.12:g.44944636G>T	TOPMed
SIX3	O95343	p.Ser293Leu	rs1017986805	missense variant	-	NC_000002.12:g.44944639C>T	TOPMed,gnomAD
SIX3	O95343	p.Ala294Thr	rs1452238062	missense variant	-	NC_000002.12:g.44944641G>A	gnomAD
SIX3	O95343	p.Ser296Trp	RCV000639734	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44944648C>G	ClinVar
SIX3	O95343	p.Ser296Trp	rs751280287	missense variant	-	NC_000002.12:g.44944648C>G	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Ser296Leu	rs751280287	missense variant	-	NC_000002.12:g.44944648C>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Pro297Leu	rs780942050	missense variant	-	NC_000002.12:g.44944651C>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Pro297Leu	rs780942050	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44944651C>T	UniProt,dbSNP
SIX3	O95343	p.Pro297Leu	VAR_071358	missense variant	Holoprosencephaly 2 (HPE2)	NC_000002.12:g.44944651C>T	UniProt
SIX3	O95343	p.Ala300Thr	COSM3581802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44944659G>A	NCI-TCGA Cosmic
SIX3	O95343	p.Ala301Thr	rs1456236951	missense variant	-	NC_000002.12:g.44944662G>A	gnomAD
SIX3	O95343	p.Pro303Leu	rs1391438380	missense variant	-	NC_000002.12:g.44944669C>T	gnomAD
SIX3	O95343	p.Pro303Arg	rs1391438380	missense variant	-	NC_000002.12:g.44944669C>G	gnomAD
SIX3	O95343	p.Thr304Ile	rs1328765266	missense variant	-	NC_000002.12:g.44944672C>T	TOPMed,gnomAD
SIX3	O95343	p.Thr304Ser	rs1328765266	missense variant	-	NC_000002.12:g.44944672C>G	TOPMed,gnomAD
SIX3	O95343	p.Ser308Ala	rs768858748	missense variant	-	NC_000002.12:g.44944683T>G	ExAC,gnomAD
SIX3	O95343	p.Ser309Gly	rs1242996743	missense variant	-	NC_000002.12:g.44944686A>G	gnomAD
SIX3	O95343	p.Thr311Met	rs1286475473	missense variant	-	NC_000002.12:g.44944693C>T	gnomAD
SIX3	O95343	p.Thr311Pro	rs1234997319	missense variant	-	NC_000002.12:g.44944692A>C	TOPMed
SIX3	O95343	p.Thr311Lys	rs1286475473	missense variant	-	NC_000002.12:g.44944693C>A	gnomAD
SIX3	O95343	p.Glu312Ter	rs1198557011	stop gained	-	NC_000002.12:g.44944695G>T	gnomAD
SIX3	O95343	p.Arg313His	rs1256290558	missense variant	-	NC_000002.12:g.44944699G>A	gnomAD
SIX3	O95343	p.Ala314GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.44944702_44944703CA>-	NCI-TCGA
SIX3	O95343	p.Ala314Val	rs1459121699	missense variant	-	NC_000002.12:g.44944702C>T	gnomAD
SIX3	O95343	p.Asp315Asn	rs1242705846	missense variant	-	NC_000002.12:g.44944704G>A	gnomAD
SIX3	O95343	p.Thr316Ile	RCV000354705	missense variant	-	NC_000002.12:g.44944708C>T	ClinVar
SIX3	O95343	p.Thr316Ile	rs201922529	missense variant	-	NC_000002.12:g.44944708C>T	ESP,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Gly317Ala	rs1368822738	missense variant	-	NC_000002.12:g.44944711G>C	gnomAD
SIX3	O95343	p.Ser319Phe	rs1168416233	missense variant	-	NC_000002.12:g.44944717C>T	gnomAD
SIX3	O95343	p.Ile320Leu	rs370063753	missense variant	-	NC_000002.12:g.44944719A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX3	O95343	p.Leu321Val	rs199795275	missense variant	-	NC_000002.12:g.44944722C>G	1000Genomes,ExAC,gnomAD
SIX3	O95343	p.Leu321Phe	rs199795275	missense variant	-	NC_000002.12:g.44944722C>T	1000Genomes,ExAC,gnomAD
SIX3	O95343	p.Leu321Ile	rs199795275	missense variant	-	NC_000002.12:g.44944722C>A	1000Genomes,ExAC,gnomAD
SIX3	O95343	p.Ser322Leu	rs867552132	missense variant	-	NC_000002.12:g.44944726C>T	gnomAD
SIX3	O95343	p.Thr324Ile	rs909085152	missense variant	-	NC_000002.12:g.44944732C>T	gnomAD
SIX3	O95343	p.Thr324Asn	rs909085152	missense variant	-	NC_000002.12:g.44944732C>A	gnomAD
SIX3	O95343	p.Ser326Arg	COSM1306822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.44944739C>G	NCI-TCGA Cosmic
SIX3	O95343	p.Ser326Ile	rs775137524	missense variant	-	NC_000002.12:g.44944738G>T	ExAC,gnomAD
SIX3	O95343	p.Glu329Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.44944746G>A	NCI-TCGA
SIX3	O95343	p.Asp331Gly	rs762735658	missense variant	-	NC_000002.12:g.44944753A>G	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Asp331Val	rs762735658	missense variant	-	NC_000002.12:g.44944753A>T	ExAC,TOPMed,gnomAD
SIX3	O95343	p.Val332Ile	rs1320121239	missense variant	-	NC_000002.12:g.44944755G>A	gnomAD
GDF11	O95390	p.Leu3Phe	rs1369091205	missense variant	-	NC_000012.12:g.55743323C>T	gnomAD
GDF11	O95390	p.Ala15Thr	rs1433975173	missense variant	-	NC_000012.12:g.55743359G>A	TOPMed,gnomAD
GDF11	O95390	p.Ala15Ser	rs1433975173	missense variant	-	NC_000012.12:g.55743359G>T	TOPMed,gnomAD
GDF11	O95390	p.Arg19Trp	rs1211157011	missense variant	-	NC_000012.12:g.55743371C>T	TOPMed,gnomAD
GDF11	O95390	p.Arg19Gly	rs1211157011	missense variant	-	NC_000012.12:g.55743371C>G	TOPMed,gnomAD
GDF11	O95390	p.Pro20Ser	rs1263301466	missense variant	-	NC_000012.12:g.55743374C>T	TOPMed
GDF11	O95390	p.Arg21Pro	rs1218117430	missense variant	-	NC_000012.12:g.55743378G>C	TOPMed
GDF11	O95390	p.Gly22Arg	rs937069224	missense variant	-	NC_000012.12:g.55743380G>A	TOPMed,gnomAD
GDF11	O95390	p.Gly22Trp	rs937069224	missense variant	-	NC_000012.12:g.55743380G>T	TOPMed,gnomAD
GDF11	O95390	p.Gly22Val	rs1048748827	missense variant	-	NC_000012.12:g.55743381G>T	TOPMed
GDF11	O95390	p.Gly22Glu	rs1048748827	missense variant	-	NC_000012.12:g.55743381G>A	TOPMed
GDF11	O95390	p.Ala34Pro	rs1270644999	missense variant	-	NC_000012.12:g.55743416G>C	TOPMed
GDF11	O95390	p.Ala35Thr	rs1259904789	missense variant	-	NC_000012.12:g.55743419G>A	TOPMed
GDF11	O95390	p.Ala39Thr	rs1461317735	missense variant	-	NC_000012.12:g.55743431G>A	TOPMed
GDF11	O95390	p.Gly42Ala	rs1248714439	missense variant	-	NC_000012.12:g.55743441G>C	TOPMed,gnomAD
GDF11	O95390	p.Gly42Val	rs1248714439	missense variant	-	NC_000012.12:g.55743441G>T	TOPMed,gnomAD
GDF11	O95390	p.Gly42Glu	rs1248714439	missense variant	-	NC_000012.12:g.55743441G>A	TOPMed,gnomAD
GDF11	O95390	p.Val43Gly	rs753797482	missense variant	-	NC_000012.12:g.55743444T>G	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Val43Ile	rs1477069156	missense variant	-	NC_000012.12:g.55743443G>A	gnomAD
GDF11	O95390	p.Val43Ala	rs753797482	missense variant	-	NC_000012.12:g.55743444T>C	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Gly44Ala	rs759677658	missense variant	-	NC_000012.12:g.55743447G>C	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Gly44Val	rs759677658	missense variant	-	NC_000012.12:g.55743447G>T	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Gly45Glu	rs1399960561	missense variant	-	NC_000012.12:g.55743450G>A	TOPMed,gnomAD
GDF11	O95390	p.Gly45Val	rs1399960561	missense variant	-	NC_000012.12:g.55743450G>T	TOPMed,gnomAD
GDF11	O95390	p.Gly45Arg	rs1386162725	missense variant	-	NC_000012.12:g.55743449G>A	gnomAD
GDF11	O95390	p.Glu46Gly	rs765040186	missense variant	-	NC_000012.12:g.55743453A>G	ExAC,gnomAD
GDF11	O95390	p.Glu46Gln	rs1348869314	missense variant	-	NC_000012.12:g.55743452G>C	TOPMed
GDF11	O95390	p.Arg47His	rs1433876779	missense variant	-	NC_000012.12:g.55743456G>A	gnomAD
GDF11	O95390	p.Ser48Phe	rs1204965985	missense variant	-	NC_000012.12:g.55743459C>T	gnomAD
GDF11	O95390	p.Pro51Leu	rs1282043221	missense variant	-	NC_000012.12:g.55743468C>T	gnomAD
GDF11	O95390	p.Pro53Leu	rs777690238	missense variant	-	NC_000012.12:g.55743474C>T	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Pro53Arg	rs777690238	missense variant	-	NC_000012.12:g.55743474C>G	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Pro59Leu	rs756857866	missense variant	-	NC_000012.12:g.55743492C>T	ExAC,gnomAD
GDF11	O95390	p.Pro59Gln	rs756857866	missense variant	-	NC_000012.12:g.55743492C>A	ExAC,gnomAD
GDF11	O95390	p.Pro59Ser	rs1210864031	missense variant	-	NC_000012.12:g.55743491C>T	gnomAD
GDF11	O95390	p.Pro63Ala	rs1252560217	missense variant	-	NC_000012.12:g.55743503C>G	gnomAD
GDF11	O95390	p.Val64Leu	rs769376446	missense variant	-	NC_000012.12:g.55743506G>T	ExAC,gnomAD
GDF11	O95390	p.Arg68Gln	rs1469413614	missense variant	-	NC_000012.12:g.55743519G>A	gnomAD
GDF11	O95390	p.Arg68Pro	rs1469413614	missense variant	-	NC_000012.12:g.55743519G>C	gnomAD
GDF11	O95390	p.Ser71Arg	rs1350932171	missense variant	-	NC_000012.12:g.55743527A>C	TOPMed
GDF11	O95390	p.Ser71Arg	rs1415731418	missense variant	-	NC_000012.12:g.55743529C>A	gnomAD
GDF11	O95390	p.Ser78Asn	rs1302160102	missense variant	-	NC_000012.12:g.55743549G>A	gnomAD
GDF11	O95390	p.Ile79Val	rs1370633843	missense variant	-	NC_000012.12:g.55743551A>G	gnomAD
GDF11	O95390	p.Lys80Arg	rs772623165	missense variant	-	NC_000012.12:g.55743555A>G	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Ser81Leu	rs1405431481	missense variant	-	NC_000012.12:g.55743558C>T	TOPMed
GDF11	O95390	p.Gln82His	rs1157682701	missense variant	-	NC_000012.12:g.55743562G>T	TOPMed
GDF11	O95390	p.Leu84Phe	COSM4854148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55743568G>C	NCI-TCGA Cosmic
GDF11	O95390	p.Arg97Cys	rs1245500059	missense variant	-	NC_000012.12:g.55743605C>T	gnomAD
GDF11	O95390	p.Gln102Ter	rs1275698336	stop gained	-	NC_000012.12:g.55743620C>T	gnomAD
GDF11	O95390	p.Gln102His	rs1381965543	missense variant	-	NC_000012.12:g.55743622G>T	TOPMed
GDF11	O95390	p.Leu116Val	rs759498492	missense variant	-	NC_000012.12:g.55743662C>G	ExAC,TOPMed,gnomAD
GDF11	O95390	p.His117Tyr	rs765329043	missense variant	-	NC_000012.12:g.55743665C>T	ExAC,gnomAD
GDF11	O95390	p.Asp118Glu	rs775763268	missense variant	-	NC_000012.12:g.55743670C>G	ExAC,gnomAD
GDF11	O95390	p.Asp118Ala	rs1162502190	missense variant	-	NC_000012.12:g.55743669A>C	gnomAD
GDF11	O95390	p.Asp118His	rs1471727535	missense variant	-	NC_000012.12:g.55743668G>C	gnomAD
GDF11	O95390	p.Gly121Ser	COSM3872058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55743677G>A	NCI-TCGA Cosmic
GDF11	O95390	p.Asp122Asn	rs1166134354	missense variant	-	NC_000012.12:g.55743680G>A	gnomAD
GDF11	O95390	p.Asp122Glu	COSM1299628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55743682C>G	NCI-TCGA Cosmic
GDF11	O95390	p.Gln125His	rs1395153758	missense variant	-	NC_000012.12:g.55743691G>C	TOPMed,gnomAD
GDF11	O95390	p.Pro126Leu	rs1397066714	missense variant	-	NC_000012.12:g.55743693C>T	gnomAD
GDF11	O95390	p.Glu127Lys	rs201671298	missense variant	-	NC_000012.12:g.55743695G>A	TOPMed
GDF11	O95390	p.Asp128Asn	rs1336787035	missense variant	-	NC_000012.12:g.55743698G>A	gnomAD
GDF11	O95390	p.Glu131Gly	rs1445348373	missense variant	-	NC_000012.12:g.55743708A>G	TOPMed
GDF11	O95390	p.Glu131Lys	COSM3463262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55743707G>A	NCI-TCGA Cosmic
GDF11	O95390	p.Asp133Asn	rs1406679906	missense variant	-	NC_000012.12:g.55743713G>A	gnomAD
GDF11	O95390	p.Glu134Asp	rs764196755	missense variant	-	NC_000012.12:g.55743718G>C	ExAC,gnomAD
GDF11	O95390	p.Tyr135Asp	rs1241167160	missense variant	-	NC_000012.12:g.55743719T>G	TOPMed
GDF11	O95390	p.His136Gln	rs1369605370	missense variant	-	NC_000012.12:g.55743724C>G	gnomAD
GDF11	O95390	p.His136Pro	rs1298575632	missense variant	-	NC_000012.12:g.55743723A>C	gnomAD
GDF11	O95390	p.Ala137Thr	rs374537273	missense variant	-	NC_000012.12:g.55743725G>A	ESP,ExAC,gnomAD
GDF11	O95390	p.Ala137Ser	rs374537273	missense variant	-	NC_000012.12:g.55743725G>T	ESP,ExAC,gnomAD
GDF11	O95390	p.Thr139Ser	rs757096616	missense variant	-	NC_000012.12:g.55743731A>T	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Glu140Lys	rs368915858	missense variant	-	NC_000012.12:g.55743734G>A	ESP,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Glu140Ala	rs750059741	missense variant	-	NC_000012.12:g.55743735A>C	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Glu140Gly	rs750059741	missense variant	-	NC_000012.12:g.55743735A>G	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Ala146Val	rs372296030	missense variant	-	NC_000012.12:g.55743753C>T	ESP,ExAC,gnomAD
GDF11	O95390	p.Gln147His	rs748861162	missense variant	-	NC_000012.12:g.55743757G>T	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Glu148Lys	rs1182700084	missense variant	-	NC_000012.12:g.55743758G>A	gnomAD
GDF11	O95390	p.Thr149Met	rs1458262102	missense variant	-	NC_000012.12:g.55748586C>T	TOPMed,gnomAD
GDF11	O95390	p.Asp150Asn	rs778217141	missense variant	-	NC_000012.12:g.55748588G>A	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Asp150His	rs778217141	missense variant	-	NC_000012.12:g.55748588G>C	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Gln154Ter	rs1180646856	stop gained	-	NC_000012.12:g.55748600C>T	TOPMed,gnomAD
GDF11	O95390	p.Thr155Arg	rs757754558	missense variant	-	NC_000012.12:g.55748604C>G	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Thr155Ile	rs757754558	missense variant	-	NC_000012.12:g.55748604C>T	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Ser158Gly	rs781608209	missense variant	-	NC_000012.12:g.55748612A>G	ExAC,gnomAD
GDF11	O95390	p.His163Tyr	rs770076921	missense variant	-	NC_000012.12:g.55748627C>T	ExAC,gnomAD
GDF11	O95390	p.Ser167Ile	rs780444518	missense variant	-	NC_000012.12:g.55748640G>T	ExAC,gnomAD
GDF11	O95390	p.Ser167Asn	rs780444518	missense variant	-	NC_000012.12:g.55748640G>A	ExAC,gnomAD
GDF11	O95390	p.Lys169ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.55748641C>-	NCI-TCGA
GDF11	O95390	p.Met171Thr	rs1234422468	missense variant	-	NC_000012.12:g.55748652T>C	TOPMed
GDF11	O95390	p.Val175Ile	rs768823786	missense variant	-	NC_000012.12:g.55748663G>A	ExAC,gnomAD
GDF11	O95390	p.Arg185Trp	rs774342921	missense variant	-	NC_000012.12:g.55748693C>T	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Arg185Gln	rs761792675	missense variant	-	NC_000012.12:g.55748694G>A	ExAC,TOPMed
GDF11	O95390	p.Pro186Leu	COSM1362928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55748697C>T	NCI-TCGA Cosmic
GDF11	O95390	p.Val187Leu	rs760397821	missense variant	-	NC_000012.12:g.55748699G>C	ExAC,gnomAD
GDF11	O95390	p.Val187Ala	rs1363884948	missense variant	-	NC_000012.12:g.55748700T>C	TOPMed
GDF11	O95390	p.Arg189His	rs555558984	missense variant	-	NC_000012.12:g.55748706G>A	1000Genomes,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Arg189Gly	rs753523328	missense variant	-	NC_000012.12:g.55748705C>G	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Arg189Pro	rs555558984	missense variant	-	NC_000012.12:g.55748706G>C	1000Genomes,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Arg189Cys	rs753523328	missense variant	-	NC_000012.12:g.55748705C>T	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Arg199Gln	rs1369414687	missense variant	-	NC_000012.12:g.55748736G>A	TOPMed,gnomAD
GDF11	O95390	p.Arg199Ter	rs895812127	stop gained	-	NC_000012.12:g.55748735C>T	-
GDF11	O95390	p.Lys201AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.55748740A>-	NCI-TCGA
GDF11	O95390	p.Leu203Val	rs764709068	missense variant	-	NC_000012.12:g.55748747C>G	ExAC,gnomAD
GDF11	O95390	p.Leu203Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55748748T>G	NCI-TCGA
GDF11	O95390	p.Thr204Asn	rs1466379190	missense variant	-	NC_000012.12:g.55748751C>A	TOPMed
GDF11	O95390	p.Gly207Glu	rs1365034629	missense variant	-	NC_000012.12:g.55748760G>A	gnomAD
GDF11	O95390	p.Gly207Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55748760G>T	NCI-TCGA
GDF11	O95390	p.Thr208Ala	COSM941401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55748762A>G	NCI-TCGA Cosmic
GDF11	O95390	p.Ala209Thr	rs201069456	missense variant	-	NC_000012.12:g.55748765G>A	1000Genomes,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Gly210Val	rs35639297	missense variant	-	NC_000012.12:g.55748769G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Gly210Ala	rs35639297	missense variant	-	NC_000012.12:g.55748769G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Gly210Arg	rs1389632510	missense variant	-	NC_000012.12:g.55748768G>C	gnomAD
GDF11	O95390	p.Gly211Val	rs1246516322	missense variant	-	NC_000012.12:g.55748772G>T	TOPMed,gnomAD
GDF11	O95390	p.Gly211Arg	rs756577208	missense variant	-	NC_000012.12:g.55748771G>A	ExAC,gnomAD
GDF11	O95390	p.Gly211Ala	rs1246516322	missense variant	-	NC_000012.12:g.55748772G>C	TOPMed,gnomAD
GDF11	O95390	p.Gly213Asp	rs1289229568	missense variant	-	NC_000012.12:g.55748778G>A	gnomAD
GDF11	O95390	p.Gly214Arg	rs780604190	missense variant	-	NC_000012.12:g.55748780G>A	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Gly215Ser	rs1459308706	missense variant	-	NC_000012.12:g.55748783G>A	TOPMed,gnomAD
GDF11	O95390	p.Arg216Gln	rs151157196	missense variant	-	NC_000012.12:g.55748787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Arg216Leu	rs151157196	missense variant	-	NC_000012.12:g.55748787G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Arg217Ser	rs948703541	missense variant	-	NC_000012.12:g.55748789C>A	TOPMed
GDF11	O95390	p.Arg217His	rs577610115	missense variant	-	NC_000012.12:g.55748790G>A	1000Genomes,ExAC,gnomAD
GDF11	O95390	p.Arg217Cys	COSM266579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55748789C>T	NCI-TCGA Cosmic
GDF11	O95390	p.Arg220His	rs1032152294	missense variant	-	NC_000012.12:g.55748799G>A	TOPMed
GDF11	O95390	p.Arg222His	rs1177150502	missense variant	-	NC_000012.12:g.55748805G>A	TOPMed,gnomAD
GDF11	O95390	p.Arg222Cys	rs964577483	missense variant	-	NC_000012.12:g.55748804C>T	gnomAD
GDF11	O95390	p.Leu224Val	rs748177224	missense variant	-	NC_000012.12:g.55748810C>G	ExAC,gnomAD
GDF11	O95390	p.Ile226Thr	rs1426000440	missense variant	-	NC_000012.12:g.55748817T>C	TOPMed,gnomAD
GDF11	O95390	p.Ile226Met	rs377713091	missense variant	-	NC_000012.12:g.55748818T>G	ESP,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Glu227Lys	rs1384904210	missense variant	-	NC_000012.12:g.55748819G>A	TOPMed,gnomAD
GDF11	O95390	p.Arg231Cys	rs1170518231	missense variant	-	NC_000012.12:g.55748831C>T	gnomAD
GDF11	O95390	p.Arg231His	rs773048452	missense variant	-	NC_000012.12:g.55748832G>A	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Ser232Leu	rs770684844	missense variant	-	NC_000012.12:g.55748835C>T	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Ser232Ter	COSM468639	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.55748835C>G	NCI-TCGA Cosmic
GDF11	O95390	p.His234Arg	rs776463049	missense variant	-	NC_000012.12:g.55748841A>G	ExAC,gnomAD
GDF11	O95390	p.Asp239Asn	rs1381538589	missense variant	-	NC_000012.12:g.55748855G>A	gnomAD
GDF11	O95390	p.Lys241Thr	rs1471862638	missense variant	-	NC_000012.12:g.55748862A>C	TOPMed
GDF11	O95390	p.Ser246Gly	rs1276082820	missense variant	-	NC_000012.12:g.55748876A>G	gnomAD
GDF11	O95390	p.Arg249Pro	rs201160764	missense variant	-	NC_000012.12:g.55748886G>C	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Arg249His	rs201160764	missense variant	-	NC_000012.12:g.55748886G>A	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Trp255Cys	rs1484431486	missense variant	-	NC_000012.12:g.55748905G>C	gnomAD
GDF11	O95390	p.Gly256Asp	rs768027190	missense variant	-	NC_000012.12:g.55748907G>A	ExAC
GDF11	O95390	p.Glu258Lys	rs756732913	missense variant	-	NC_000012.12:g.55748912G>A	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Asp263His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55748927G>C	NCI-TCGA
GDF11	O95390	p.Pro276Leu	rs779013078	missense variant	-	NC_000012.12:g.55748967C>T	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Gly277Arg	rs1213533171	missense variant	-	NC_000012.12:g.55748969G>A	gnomAD
GDF11	O95390	p.Gly277Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55748970G>C	NCI-TCGA
GDF11	O95390	p.Glu279Lys	rs377322165	missense variant	-	NC_000012.12:g.55748975G>A	ESP,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Glu279Asp	rs746927725	missense variant	-	NC_000012.12:g.55748977G>C	ExAC,gnomAD
GDF11	O95390	p.Leu281Gln	rs1465676590	missense variant	-	NC_000012.12:g.55748982T>A	gnomAD
GDF11	O95390	p.Leu281Met	rs770913542	missense variant	-	NC_000012.12:g.55748981C>A	ExAC,gnomAD
GDF11	O95390	p.Met285Val	rs1472251834	missense variant	-	NC_000012.12:g.55749511A>G	TOPMed
GDF11	O95390	p.Arg288Gln	rs766996465	missense variant	-	NC_000012.12:g.55749521G>A	ExAC,gnomAD
GDF11	O95390	p.Val289Ile	rs1258041435	missense variant	-	NC_000012.12:g.55749523G>A	TOPMed
GDF11	O95390	p.Glu291Gln	rs754195878	missense variant	-	NC_000012.12:g.55749529G>C	ExAC,gnomAD
GDF11	O95390	p.Glu291Asp	rs954388671	missense variant	-	NC_000012.12:g.55749531G>C	gnomAD
GDF11	O95390	p.Glu291Val	rs755414859	missense variant	-	NC_000012.12:g.55749530A>T	ExAC,gnomAD
GDF11	O95390	p.Asn292Thr	rs765457179	missense variant	-	NC_000012.12:g.55749533A>C	ExAC,gnomAD
GDF11	O95390	p.Asn292Lys	COSM1299629	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749534C>G	NCI-TCGA Cosmic
GDF11	O95390	p.Thr293Ile	rs752832892	missense variant	-	NC_000012.12:g.55749536C>T	ExAC,gnomAD
GDF11	O95390	p.Arg297Gln	rs373209240	missense variant	-	NC_000012.12:g.55749548G>A	ESP,ExAC
GDF11	O95390	p.Arg297Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55749547C>T	NCI-TCGA
GDF11	O95390	p.Arg298Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55749551G>A	NCI-TCGA
GDF11	O95390	p.Leu300Pro	rs1165110498	missense variant	-	NC_000012.12:g.55749557T>C	gnomAD
GDF11	O95390	p.Gly301Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55749559G>A	NCI-TCGA
GDF11	O95390	p.Asp303Glu	rs747162441	missense variant	-	NC_000012.12:g.55749567C>A	ExAC,gnomAD
GDF11	O95390	p.Asp305Glu	rs376855167	missense variant	-	NC_000012.12:g.55749573C>A	ESP,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Asp305Asn	rs781124704	missense variant	-	NC_000012.12:g.55749571G>A	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Glu306Lys	rs1444997099	missense variant	-	NC_000012.12:g.55749574G>A	gnomAD
GDF11	O95390	p.Glu306Ala	rs1278088835	missense variant	-	NC_000012.12:g.55749575A>C	gnomAD
GDF11	O95390	p.Ser309Arg	rs1229100363	missense variant	-	NC_000012.12:g.55749585C>G	gnomAD
GDF11	O95390	p.Glu310Lys	rs775400796	missense variant	-	NC_000012.12:g.55749586G>A	ExAC,gnomAD
GDF11	O95390	p.Arg312His	rs748876101	missense variant	-	NC_000012.12:g.55749593G>A	ExAC,gnomAD
GDF11	O95390	p.Arg312Cys	COSM4043372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749592C>T	NCI-TCGA Cosmic
GDF11	O95390	p.Arg315Gln	rs761420405	missense variant	-	NC_000012.12:g.55749602G>A	ExAC,gnomAD
GDF11	O95390	p.Val320Gly	rs760131097	missense variant	-	NC_000012.12:g.55749617T>G	ExAC,gnomAD
GDF11	O95390	p.Ala324Ser	rs765498823	missense variant	-	NC_000012.12:g.55749628G>T	ExAC,gnomAD
GDF11	O95390	p.Gly326Ser	rs753164401	missense variant	-	NC_000012.12:g.55749634G>A	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Trp329Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55749643T>A	NCI-TCGA
GDF11	O95390	p.Ala332Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55749652G>A	NCI-TCGA
GDF11	O95390	p.Lys334Met	rs764308916	missense variant	-	NC_000012.12:g.55749659A>T	ExAC,gnomAD
GDF11	O95390	p.Lys334Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55749658A>G	NCI-TCGA
GDF11	O95390	p.Arg335His	rs1335516178	missense variant	-	NC_000012.12:g.55749662G>A	TOPMed,gnomAD
GDF11	O95390	p.Arg335Leu	rs1335516178	missense variant	-	NC_000012.12:g.55749662G>T	TOPMed,gnomAD
GDF11	O95390	p.Arg335Cys	rs1480358374	missense variant	-	NC_000012.12:g.55749661C>T	TOPMed,gnomAD
GDF11	O95390	p.Tyr336Ter	rs1449282134	stop gained	-	NC_000012.12:g.55749666C>G	gnomAD
GDF11	O95390	p.Tyr336Ter	RCV000626007	nonsense	-	NC_000012.12:g.55749666C>G	ClinVar
GDF11	O95390	p.Tyr340His	rs1195145952	missense variant	-	NC_000012.12:g.55749676T>C	gnomAD
GDF11	O95390	p.Ser342Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55749683C>T	NCI-TCGA
GDF11	O95390	p.Gly343Cys	rs781069776	missense variant	-	NC_000012.12:g.55749685G>T	ExAC,gnomAD
GDF11	O95390	p.Gln344His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55749690G>C	NCI-TCGA
GDF11	O95390	p.Glu346Asp	rs779705439	missense variant	-	NC_000012.12:g.55749696G>C	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Glu346Lys	rs756132179	missense variant	-	NC_000012.12:g.55749694G>A	ExAC,gnomAD
GDF11	O95390	p.Tyr347Cys	rs1355830476	missense variant	-	NC_000012.12:g.55749698A>G	TOPMed
GDF11	O95390	p.Met348Thr	rs1270842984	missense variant	-	NC_000012.12:g.55749701T>C	gnomAD
GDF11	O95390	p.Gln351Ter	rs1436990423	stop gained	-	NC_000012.12:g.55749709C>T	gnomAD
GDF11	O95390	p.Thr356Ala	rs747619714	missense variant	-	NC_000012.12:g.55749724A>G	ExAC,gnomAD
GDF11	O95390	p.Asn363Tyr	COSM1362929	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749745A>T	NCI-TCGA Cosmic
GDF11	O95390	p.Arg365Gly	rs771675483	missense variant	-	NC_000012.12:g.55749751A>G	ExAC,TOPMed,gnomAD
GDF11	O95390	p.Ala368Gly	rs772900208	missense variant	-	NC_000012.12:g.55749761C>G	ExAC,gnomAD
GDF11	O95390	p.Pro370Leu	rs1166643883	missense variant	-	NC_000012.12:g.55749767C>T	gnomAD
GDF11	O95390	p.Thr373Ala	rs775654641	missense variant	-	NC_000012.12:g.55749775A>G	ExAC,gnomAD
GDF11	O95390	p.Thr373Asn	rs1404375406	missense variant	-	NC_000012.12:g.55749776C>A	gnomAD
GDF11	O95390	p.Pro374Thr	COSM294406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749778C>A	NCI-TCGA Cosmic
GDF11	O95390	p.Thr375Ile	rs374606006	missense variant	-	NC_000012.12:g.55749782C>T	ESP,TOPMed
GDF11	O95390	p.Ile380Val	rs1225397425	missense variant	-	NC_000012.12:g.55749796A>G	TOPMed,gnomAD
GDF11	O95390	p.Ile380Leu	rs1225397425	missense variant	-	NC_000012.12:g.55749796A>C	TOPMed,gnomAD
GDF11	O95390	p.Lys388Arg	rs1204225512	missense variant	-	NC_000012.12:g.55749821A>G	TOPMed,gnomAD
GDF11	O95390	p.Tyr393His	COSM1362930	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749835T>C	NCI-TCGA Cosmic
GDF11	O95390	p.Gly394Ser	COSM3792807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.55749838G>A	NCI-TCGA Cosmic
GDF11	O95390	p.Met399Thr	rs767568080	missense variant	-	NC_000012.12:g.55749854T>C	ExAC,gnomAD
GDF11	O95390	p.Arg403His	rs374387578	missense variant	-	NC_000012.12:g.55749866G>A	ESP,ExAC,TOPMed,gnomAD
GDF11	O95390	p.Cys406Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.55749875G>A	NCI-TCGA
BAG4	O95429	p.Ser2Pro	rs1313932304	missense variant	-	NC_000008.11:g.38176873T>C	TOPMed
BAG4	O95429	p.Ser2Trp	rs988696950	missense variant	-	NC_000008.11:g.38176874C>G	TOPMed
BAG4	O95429	p.Ser2Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38176874C>T	NCI-TCGA
BAG4	O95429	p.Leu4Val	rs1350773113	missense variant	-	NC_000008.11:g.38176879C>G	TOPMed
BAG4	O95429	p.Leu4Arg	rs914090821	missense variant	-	NC_000008.11:g.38176880T>G	TOPMed,gnomAD
BAG4	O95429	p.Arg6Leu	rs760711712	missense variant	-	NC_000008.11:g.38176886G>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg6Cys	rs1187114537	missense variant	-	NC_000008.11:g.38176885C>T	gnomAD
BAG4	O95429	p.Arg6His	rs760711712	missense variant	-	NC_000008.11:g.38176886G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser7Thr	rs1476040627	missense variant	-	NC_000008.11:g.38176888T>A	gnomAD
BAG4	O95429	p.Ser7Trp	rs763796427	missense variant	-	NC_000008.11:g.38176889C>G	ExAC,gnomAD
BAG4	O95429	p.Ser7Leu	rs763796427	missense variant	-	NC_000008.11:g.38176889C>T	ExAC,gnomAD
BAG4	O95429	p.Gly8Ser	rs1331151184	missense variant	-	NC_000008.11:g.38176891G>A	TOPMed
BAG4	O95429	p.Tyr9Cys	rs931803291	missense variant	-	NC_000008.11:g.38176895A>G	gnomAD
BAG4	O95429	p.Pro11Leu	rs1372469618	missense variant	-	NC_000008.11:g.38176901C>T	gnomAD
BAG4	O95429	p.Ser12Arg	rs1410566693	missense variant	-	NC_000008.11:g.38176905T>A	gnomAD
BAG4	O95429	p.Asp13Asn	rs1293172711	missense variant	-	NC_000008.11:g.38176906G>A	gnomAD
BAG4	O95429	p.Gly14Cys	rs1247367980	missense variant	-	NC_000008.11:g.38176909G>T	TOPMed,gnomAD
BAG4	O95429	p.Gly14Arg	rs1247367980	missense variant	-	NC_000008.11:g.38176909G>C	TOPMed,gnomAD
BAG4	O95429	p.Pro15Gln	rs573786065	missense variant	-	NC_000008.11:g.38176913C>A	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Pro15Leu	rs573786065	missense variant	-	NC_000008.11:g.38176913C>T	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Tyr17Cys	rs1276399741	missense variant	-	NC_000008.11:g.38176919A>G	TOPMed,gnomAD
BAG4	O95429	p.Tyr17Phe	rs1276399741	missense variant	-	NC_000008.11:g.38176919A>T	TOPMed,gnomAD
BAG4	O95429	p.Tyr17His	rs757869191	missense variant	-	NC_000008.11:g.38176918T>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly18Cys	rs1209566530	missense variant	-	NC_000008.11:g.38176921G>T	gnomAD
BAG4	O95429	p.Gly18Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38176922G>A	NCI-TCGA
BAG4	O95429	p.Arg19His	rs910680328	missense variant	-	NC_000008.11:g.38176925G>A	TOPMed,gnomAD
BAG4	O95429	p.Arg19Cys	rs1237777485	missense variant	-	NC_000008.11:g.38176924C>T	TOPMed
BAG4	O95429	p.Tyr20Cys	rs1425495889	missense variant	-	NC_000008.11:g.38176928A>G	gnomAD
BAG4	O95429	p.Gly22Val	rs1338238230	missense variant	-	NC_000008.11:g.38176934G>T	TOPMed
BAG4	O95429	p.Gly24Ala	rs369467061	missense variant	-	NC_000008.11:g.38176940G>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly25Val	rs781640921	missense variant	-	NC_000008.11:g.38176943G>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly25Asp	rs781640921	missense variant	-	NC_000008.11:g.38176943G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly25Ser	rs61731142	missense variant	-	NC_000008.11:g.38176942G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly26Arg	rs748527070	missense variant	-	NC_000008.11:g.38176945G>A	ExAC,gnomAD
BAG4	O95429	p.Asp27His	rs899059377	missense variant	-	NC_000008.11:g.38176948G>C	TOPMed
BAG4	O95429	p.Val28Ala	rs1430434762	missense variant	-	NC_000008.11:g.38176952T>C	gnomAD
BAG4	O95429	p.Pro29Leu	rs770097684	missense variant	-	NC_000008.11:g.38176955C>T	ExAC,gnomAD
BAG4	O95429	p.His31Pro	rs1315299224	missense variant	-	NC_000008.11:g.38176961A>C	TOPMed
BAG4	O95429	p.Pro32Ala	rs1398305681	missense variant	-	NC_000008.11:g.38176963C>G	TOPMed,gnomAD
BAG4	O95429	p.Pro32Ser	rs1398305681	missense variant	-	NC_000008.11:g.38176963C>T	TOPMed,gnomAD
BAG4	O95429	p.Pro33His	rs749569625	missense variant	-	NC_000008.11:g.38176967C>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro33Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38176967C>T	NCI-TCGA
BAG4	O95429	p.Pro34Thr	rs1225752806	missense variant	-	NC_000008.11:g.38176969C>A	gnomAD
BAG4	O95429	p.Pro35Arg	rs774560193	missense variant	-	NC_000008.11:g.38176973C>G	ExAC,gnomAD
BAG4	O95429	p.Pro35Ser	rs770881318	missense variant	-	NC_000008.11:g.38176972C>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Tyr37Cys	rs1277574511	missense variant	-	NC_000008.11:g.38176979A>G	gnomAD
BAG4	O95429	p.Tyr37His	rs760520384	missense variant	-	NC_000008.11:g.38176978T>C	ExAC,gnomAD
BAG4	O95429	p.Pro38Ala	rs1483984798	missense variant	-	NC_000008.11:g.38176981C>G	gnomAD
BAG4	O95429	p.Leu39Phe	rs1200949113	missense variant	-	NC_000008.11:g.38176984C>T	TOPMed,gnomAD
BAG4	O95429	p.Arg40Leu	rs1300173973	missense variant	-	NC_000008.11:g.38176988G>T	TOPMed
BAG4	O95429	p.Pro41Arg	rs555873998	missense variant	-	NC_000008.11:g.38176991C>G	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro41Leu	rs555873998	missense variant	-	NC_000008.11:g.38176991C>T	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Glu42Val	rs895662963	missense variant	-	NC_000008.11:g.38176994A>T	TOPMed
BAG4	O95429	p.Pro43Leu	rs1450331940	missense variant	-	NC_000008.11:g.38176997C>T	gnomAD
BAG4	O95429	p.Pro43Ser	rs1250072039	missense variant	-	NC_000008.11:g.38176996C>T	gnomAD
BAG4	O95429	p.Pro46Ser	rs1173322707	missense variant	-	NC_000008.11:g.38177005C>T	TOPMed,gnomAD
BAG4	O95429	p.Pro47Ser	rs1375988479	missense variant	-	NC_000008.11:g.38177008C>T	gnomAD
BAG4	O95429	p.Ile48Val	rs1181032965	missense variant	-	NC_000008.11:g.38177011A>G	TOPMed
BAG4	O95429	p.Ser49Phe	rs761628692	missense variant	-	NC_000008.11:g.38177015C>T	ExAC,gnomAD
BAG4	O95429	p.Trp50Arg	rs1478133053	missense variant	-	NC_000008.11:g.38177017T>A	TOPMed
BAG4	O95429	p.Arg51Trp	rs868231605	missense variant	-	NC_000008.11:g.38177020C>T	TOPMed,gnomAD
BAG4	O95429	p.Val52Leu	rs577611064	missense variant	-	NC_000008.11:g.38177023G>C	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Arg53Pro	rs750055261	missense variant	-	NC_000008.11:g.38177027G>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg53His	rs750055261	missense variant	-	NC_000008.11:g.38177027G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg53Leu	rs750055261	missense variant	-	NC_000008.11:g.38177027G>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly55Ser	rs1439697660	missense variant	-	NC_000008.11:g.38177032G>A	TOPMed,gnomAD
BAG4	O95429	p.Gly56Asp	rs751093887	missense variant	-	NC_000008.11:g.38177036G>A	ExAC,gnomAD
BAG4	O95429	p.Gly56Ser	rs765793594	missense variant	-	NC_000008.11:g.38177035G>A	ExAC,gnomAD
BAG4	O95429	p.Pro57Arg	rs1311079690	missense variant	-	NC_000008.11:g.38177039C>G	TOPMed
BAG4	O95429	p.Pro57Ser	rs781772073	missense variant	-	NC_000008.11:g.38177038C>T	ExAC,gnomAD
BAG4	O95429	p.Thr61Ile	rs756522380	missense variant	-	NC_000008.11:g.38177051C>T	ExAC,gnomAD
BAG4	O95429	p.Trp62Cys	rs1022665390	missense variant	-	NC_000008.11:g.38177055G>T	TOPMed,gnomAD
BAG4	O95429	p.Trp62Ter	rs778318816	stop gained	-	NC_000008.11:g.38177054G>A	ExAC,gnomAD
BAG4	O95429	p.Gly64Ala	rs1280647675	missense variant	-	NC_000008.11:g.38177060G>C	TOPMed
BAG4	O95429	p.Gly64Arg	rs1199699003	missense variant	-	NC_000008.11:g.38177059G>A	gnomAD
BAG4	O95429	p.Gly66Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38177065G>A	NCI-TCGA
BAG4	O95429	p.Gly69Ser	rs1363665687	missense variant	-	NC_000008.11:g.38177074G>A	gnomAD
BAG4	O95429	p.Asp70Glu	rs1162076581	missense variant	-	NC_000008.11:g.38177079T>G	gnomAD
BAG4	O95429	p.Asp70Tyr	rs771247507	missense variant	-	NC_000008.11:g.38177077G>T	ExAC,gnomAD
BAG4	O95429	p.Asp70Asn	rs771247507	missense variant	-	NC_000008.11:g.38177077G>A	ExAC,gnomAD
BAG4	O95429	p.Gly71Asp	rs1389824352	missense variant	-	NC_000008.11:g.38177081G>A	gnomAD
BAG4	O95429	p.Tyr72His	rs1461293286	missense variant	-	NC_000008.11:g.38177083T>C	gnomAD
BAG4	O95429	p.Tyr72Cys	rs1291399487	missense variant	-	NC_000008.11:g.38177084A>G	TOPMed,gnomAD
BAG4	O95429	p.Tyr73Cys	rs528643030	missense variant	-	NC_000008.11:g.38177087A>G	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro74Leu	rs768542077	missense variant	-	NC_000008.11:g.38177090C>T	ExAC,gnomAD
BAG4	O95429	p.Ser75Leu	rs1000254934	missense variant	-	NC_000008.11:g.38177093C>T	TOPMed
BAG4	O95429	p.Gly76Glu	rs1020991875	missense variant	-	NC_000008.11:g.38177096G>A	-
BAG4	O95429	p.Ala78Gly	rs1230140085	missense variant	-	NC_000008.11:g.38177102C>G	TOPMed,gnomAD
BAG4	O95429	p.Ala78Asp	rs1230140085	missense variant	-	NC_000008.11:g.38177102C>A	TOPMed,gnomAD
BAG4	O95429	p.Ala78Thr	rs748133543	missense variant	-	NC_000008.11:g.38177101G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly83Arg	rs769547218	missense variant	-	NC_000008.11:g.38177116G>C	ExAC,gnomAD
BAG4	O95429	p.Arg84Gln	rs773116442	missense variant	-	NC_000008.11:g.38177120G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg84Pro	rs773116442	missense variant	-	NC_000008.11:g.38177120G>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg84Gly	rs1191434325	missense variant	-	NC_000008.11:g.38177119C>G	TOPMed
BAG4	O95429	p.Ala85Pro	rs1211627199	missense variant	-	NC_000008.11:g.38177122G>C	TOPMed,gnomAD
BAG4	O95429	p.Ala85Val	COSM1099552	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38177123C>T	NCI-TCGA Cosmic
BAG4	O95429	p.Gly87Arg	rs923150151	missense variant	-	NC_000008.11:g.38177128G>A	gnomAD
BAG4	O95429	p.Gly87Val	rs1272569239	missense variant	-	NC_000008.11:g.38177129G>T	gnomAD
BAG4	O95429	p.His89Gln	rs762455304	missense variant	-	NC_000008.11:g.38177136C>G	ExAC
BAG4	O95429	p.Gln90Ter	rs1192398635	stop gained	-	NC_000008.11:g.38177137C>T	TOPMed
BAG4	O95429	p.Pro94Leu	rs1416398243	missense variant	-	NC_000008.11:g.38192698C>T	gnomAD
BAG4	O95429	p.Tyr95His	rs770439984	missense variant	-	NC_000008.11:g.38192700T>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Tyr98Cys	rs537121062	missense variant	-	NC_000008.11:g.38192710A>G	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Tyr98Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38192710A>T	NCI-TCGA
BAG4	O95429	p.Asn99Ile	rs1374699701	missense variant	-	NC_000008.11:g.38192713A>T	gnomAD
BAG4	O95429	p.Asn99Asp	rs767127120	missense variant	-	NC_000008.11:g.38192712A>G	ExAC,gnomAD
BAG4	O95429	p.Asn99Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38192713A>C	NCI-TCGA
BAG4	O95429	p.Tyr102Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38192722A>G	NCI-TCGA
BAG4	O95429	p.Trp103Ter	rs143482634	stop gained	-	NC_000008.11:g.38192725G>A	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Asn104Asp	rs754115309	missense variant	-	NC_000008.11:g.38192727A>G	ExAC,gnomAD
BAG4	O95429	p.Ser105Phe	rs1347629668	missense variant	-	NC_000008.11:g.38192731C>T	TOPMed
BAG4	O95429	p.Ala107Val	rs147141531	missense variant	-	NC_000008.11:g.38192737C>T	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg108Ile	rs1230628154	missense variant	-	NC_000008.11:g.38192740G>T	gnomAD
BAG4	O95429	p.Arg108Lys	rs1230628154	missense variant	-	NC_000008.11:g.38192740G>A	gnomAD
BAG4	O95429	p.Ser109Tyr	rs1275440435	missense variant	-	NC_000008.11:g.38192743C>A	gnomAD
BAG4	O95429	p.Ser109Phe	rs1275440435	missense variant	-	NC_000008.11:g.38192743C>T	gnomAD
BAG4	O95429	p.Arg110Gly	rs1347320818	missense variant	-	NC_000008.11:g.38192745A>G	TOPMed,gnomAD
BAG4	O95429	p.Pro112Leu	rs765570780	missense variant	-	NC_000008.11:g.38192752C>T	ExAC,gnomAD
BAG4	O95429	p.Pro114Arg	rs750629838	missense variant	-	NC_000008.11:g.38192758C>G	ExAC,gnomAD
BAG4	O95429	p.Ser115Gly	rs1186323998	missense variant	-	NC_000008.11:g.38192760A>G	gnomAD
BAG4	O95429	p.Thr116Ala	rs1450943909	missense variant	-	NC_000008.11:g.38192763A>G	TOPMed,gnomAD
BAG4	O95429	p.Tyr117Ter	rs560372313	stop gained	-	NC_000008.11:g.38192768T>G	1000Genomes,ExAC
BAG4	O95429	p.Pro118Ser	rs867892951	missense variant	-	NC_000008.11:g.38192769C>T	-
BAG4	O95429	p.Val119Leu	rs747094717	missense variant	-	NC_000008.11:g.38192772G>T	ExAC,gnomAD
BAG4	O95429	p.Leu123Ser	rs749229656	missense variant	-	NC_000008.11:g.38192785T>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly125Ser	rs770724435	missense variant	-	NC_000008.11:g.38192790G>A	ExAC,gnomAD
BAG4	O95429	p.Gln126Ter	rs1171697650	stop gained	-	NC_000008.11:g.38192793C>T	TOPMed
BAG4	O95429	p.Gln126His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38192795G>T	NCI-TCGA
BAG4	O95429	p.Ser127Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38207513G>C	NCI-TCGA
BAG4	O95429	p.Ser130Pro	rs377544370	missense variant	-	NC_000008.11:g.38207521T>C	ESP,ExAC,gnomAD
BAG4	O95429	p.Ser130Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38207522C>T	NCI-TCGA
BAG4	O95429	p.Tyr131His	rs899926277	missense variant	-	NC_000008.11:g.38207524T>C	TOPMed,gnomAD
BAG4	O95429	p.Thr132Ile	rs371334530	missense variant	-	NC_000008.11:g.38207528C>T	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Thr132Lys	rs371334530	missense variant	-	NC_000008.11:g.38207528C>A	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Thr132Ala	rs1331626793	missense variant	-	NC_000008.11:g.38207527A>G	gnomAD
BAG4	O95429	p.Gly134Arg	rs1241307042	missense variant	-	NC_000008.11:g.38207533G>A	TOPMed
BAG4	O95429	p.Ala135Val	rs757197258	missense variant	-	NC_000008.11:g.38207537C>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly137Ser	rs745666389	missense variant	-	NC_000008.11:g.38207542G>A	ExAC,gnomAD
BAG4	O95429	p.Pro138Leu	COSM3648810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38207546C>T	NCI-TCGA Cosmic
BAG4	O95429	p.Pro138Ser	rs566952392	missense variant	-	NC_000008.11:g.38207545C>T	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Thr139Ala	rs192353336	missense variant	-	NC_000008.11:g.38207548A>G	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Thr139Lys	rs746709814	missense variant	-	NC_000008.11:g.38207549C>A	ExAC,gnomAD
BAG4	O95429	p.Pro141Arg	rs1390209945	missense variant	-	NC_000008.11:g.38207555C>G	gnomAD
BAG4	O95429	p.Pro141Thr	rs1163968701	missense variant	-	NC_000008.11:g.38207554C>A	TOPMed,gnomAD
BAG4	O95429	p.Pro141Ser	rs1163968701	missense variant	-	NC_000008.11:g.38207554C>T	TOPMed,gnomAD
BAG4	O95429	p.Pro142Ala	rs377654190	missense variant	-	NC_000008.11:g.38207557C>G	ESP,ExAC,gnomAD
BAG4	O95429	p.Pro142Ser	rs377654190	missense variant	-	NC_000008.11:g.38207557C>T	ESP,ExAC,gnomAD
BAG4	O95429	p.Pro142Arg	rs762370493	missense variant	-	NC_000008.11:g.38207558C>G	ExAC,gnomAD
BAG4	O95429	p.Gly143Arg	rs770204996	missense variant	-	NC_000008.11:g.38207560G>C	ExAC,gnomAD
BAG4	O95429	p.Ala146Thr	rs1385250108	missense variant	-	NC_000008.11:g.38207569G>A	TOPMed
BAG4	O95429	p.Ser150Leu	rs766778888	missense variant	-	NC_000008.11:g.38207582C>T	ExAC,gnomAD
BAG4	O95429	p.Ser150Pro	rs763330256	missense variant	-	NC_000008.11:g.38207581T>C	ExAC,gnomAD
BAG4	O95429	p.Ser152Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.38207588C>G	NCI-TCGA
BAG4	O95429	p.Gly153Glu	rs762772921	missense variant	-	NC_000008.11:g.38207591G>A	gnomAD
BAG4	O95429	p.Gly153Arg	rs1354767915	missense variant	-	NC_000008.11:g.38207590G>A	gnomAD
BAG4	O95429	p.Ala154Thr	rs751745986	missense variant	-	NC_000008.11:g.38207593G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ala154Val	rs1468131128	missense variant	-	NC_000008.11:g.38207594C>T	TOPMed
BAG4	O95429	p.Tyr155Ser	rs570023756	missense variant	-	NC_000008.11:g.38207597A>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Tyr155Cys	rs570023756	missense variant	-	NC_000008.11:g.38207597A>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Tyr156Asn	rs537081631	missense variant	-	NC_000008.11:g.38207599T>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Tyr156Cys	rs750198951	missense variant	-	NC_000008.11:g.38207600A>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Tyr156Asp	rs537081631	missense variant	-	NC_000008.11:g.38207599T>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Tyr156His	rs537081631	missense variant	-	NC_000008.11:g.38207599T>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ala157Val	rs1186840496	missense variant	-	NC_000008.11:g.38207603C>T	gnomAD
BAG4	O95429	p.Pro158Ser	rs958634390	missense variant	-	NC_000008.11:g.38207605C>T	TOPMed
BAG4	O95429	p.Pro158Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38207606C>T	NCI-TCGA
BAG4	O95429	p.Gly159Asp	rs916826247	missense variant	-	NC_000008.11:g.38207609G>A	TOPMed
BAG4	O95429	p.Thr161Ser	rs769250247	missense variant	-	NC_000008.11:g.38207614A>T	TOPMed,gnomAD
BAG4	O95429	p.Gln162His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38207619G>T	NCI-TCGA
BAG4	O95429	p.Ser164Gly	rs1165186738	missense variant	-	NC_000008.11:g.38207623A>G	gnomAD
BAG4	O95429	p.Ser166Phe	rs1233752099	missense variant	-	NC_000008.11:g.38207630C>T	TOPMed
BAG4	O95429	p.Thr167Ile	rs780035464	missense variant	-	NC_000008.11:g.38207633C>T	ExAC,gnomAD
BAG4	O95429	p.Val169Ala	rs1429130448	missense variant	-	NC_000008.11:g.38207639T>C	gnomAD
BAG4	O95429	p.Val169Phe	rs1357303591	missense variant	-	NC_000008.11:g.38207638G>T	TOPMed
BAG4	O95429	p.Pro170Gln	rs1306274077	missense variant	-	NC_000008.11:g.38207642C>A	gnomAD
BAG4	O95429	p.Ser171Gly	rs746656663	missense variant	-	NC_000008.11:g.38207644A>G	ExAC,gnomAD
BAG4	O95429	p.Thr172Asn	rs1354600047	missense variant	-	NC_000008.11:g.38207648C>A	gnomAD
BAG4	O95429	p.Tyr173Ser	rs780697101	missense variant	-	NC_000008.11:g.38207651A>C	ExAC,gnomAD
BAG4	O95429	p.Tyr173His	rs140270832	missense variant	-	NC_000008.11:g.38207650T>C	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Tyr173Cys	rs780697101	missense variant	-	NC_000008.11:g.38207651A>G	ExAC,gnomAD
BAG4	O95429	p.Arg174His	rs770285002	missense variant	-	NC_000008.11:g.38207654G>A	ExAC,gnomAD
BAG4	O95429	p.Arg174Cys	rs375790383	missense variant	-	NC_000008.11:g.38207653C>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Asn178Ser	rs749833811	missense variant	-	NC_000008.11:g.38207666A>G	ExAC,gnomAD
BAG4	O95429	p.Thr181Ile	rs1043917371	missense variant	-	NC_000008.11:g.38207675C>T	TOPMed,gnomAD
BAG4	O95429	p.Pro182Ser	rs367677262	missense variant	-	NC_000008.11:g.38207677C>T	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro182Thr	rs367677262	missense variant	-	NC_000008.11:g.38207677C>A	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser184Phe	rs1254039818	missense variant	-	NC_000008.11:g.38207684C>T	gnomAD
BAG4	O95429	p.Ser184Pro	rs143334197	missense variant	-	NC_000008.11:g.38207683T>C	ESP,ExAC,gnomAD
BAG4	O95429	p.Ser184Thr	rs143334197	missense variant	-	NC_000008.11:g.38207683T>A	ESP,ExAC,gnomAD
BAG4	O95429	p.Arg185Pro	rs61754115	missense variant	-	NC_000008.11:g.38207687G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg185His	rs61754115	missense variant	-	NC_000008.11:g.38207687G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg185Cys	rs1383614818	missense variant	-	NC_000008.11:g.38207686C>T	TOPMed
BAG4	O95429	p.Trp186Cys	rs372261481	missense variant	-	NC_000008.11:g.38207691G>T	ESP,TOPMed
BAG4	O95429	p.Ile187Leu	rs775602909	missense variant	-	NC_000008.11:g.38207692A>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ile187Asn	rs1446241717	missense variant	-	NC_000008.11:g.38207693T>A	gnomAD
BAG4	O95429	p.Tyr188Cys	rs760694848	missense variant	-	NC_000008.11:g.38207696A>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro189Leu	rs764321796	missense variant	-	NC_000008.11:g.38207699C>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro189Thr	rs1449094376	missense variant	-	NC_000008.11:g.38207698C>A	gnomAD
BAG4	O95429	p.Pro189Arg	rs764321796	missense variant	-	NC_000008.11:g.38207699C>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro189His	rs764321796	missense variant	-	NC_000008.11:g.38207699C>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gln190Ter	rs750356325	stop gained	-	NC_000008.11:g.38207701C>T	ExAC,gnomAD
BAG4	O95429	p.Gln190Arg	rs1040496476	missense variant	-	NC_000008.11:g.38207702A>G	TOPMed,gnomAD
BAG4	O95429	p.Gln190His	rs1172463195	missense variant	-	NC_000008.11:g.38207703G>T	gnomAD
BAG4	O95429	p.Gln190Leu	rs1040496476	missense variant	-	NC_000008.11:g.38207702A>T	TOPMed,gnomAD
BAG4	O95429	p.Cys193Arg	rs139408020	missense variant	-	NC_000008.11:g.38207710T>C	ESP,ExAC,gnomAD
BAG4	O95429	p.Cys193Gly	rs139408020	missense variant	-	NC_000008.11:g.38207710T>G	ESP,ExAC,gnomAD
BAG4	O95429	p.Gln194Glu	rs751327189	missense variant	-	NC_000008.11:g.38207713C>G	ExAC,gnomAD
BAG4	O95429	p.Glu196Lys	rs567675876	missense variant	-	NC_000008.11:g.38207719G>A	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Ala197Thr	rs762316003	missense variant	-	NC_000008.11:g.38207722G>A	TOPMed
BAG4	O95429	p.Pro198Ser	rs1432423465	missense variant	-	NC_000008.11:g.38207725C>T	gnomAD
BAG4	O95429	p.Pro199Ala	rs150045830	missense variant	-	NC_000008.11:g.38207728C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro199His	rs1231933774	missense variant	-	NC_000008.11:g.38207729C>A	gnomAD
BAG4	O95429	p.Pro199Ser	rs150045830	missense variant	-	NC_000008.11:g.38207728C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro199Leu	rs1231933774	missense variant	-	NC_000008.11:g.38207729C>T	gnomAD
BAG4	O95429	p.Leu200Phe	rs1182516308	missense variant	-	NC_000008.11:g.38207731C>T	gnomAD
BAG4	O95429	p.Arg201Ser	rs771438838	missense variant	-	NC_000008.11:g.38207736G>C	ExAC,gnomAD
BAG4	O95429	p.Arg201Met	rs556443925	missense variant	-	NC_000008.11:g.38207735G>T	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Gly202Arg	rs1463424425	missense variant	-	NC_000008.11:g.38207737G>A	gnomAD
BAG4	O95429	p.Gln203Arg	rs746253494	missense variant	-	NC_000008.11:g.38207741A>G	ExAC,gnomAD
BAG4	O95429	p.Pro205Ser	COSM422137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38207746C>T	NCI-TCGA Cosmic
BAG4	O95429	p.Tyr207Cys	rs1429145864	missense variant	-	NC_000008.11:g.38207753A>G	gnomAD
BAG4	O95429	p.Pro208Leu	rs200494674	missense variant	-	NC_000008.11:g.38207756C>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro208Ser	rs772290430	missense variant	-	NC_000008.11:g.38207755C>T	ExAC,gnomAD
BAG4	O95429	p.Pro209Arg	rs764266335	missense variant	-	NC_000008.11:g.38207759C>G	ExAC,gnomAD
BAG4	O95429	p.Asn212Tyr	rs780535591	missense variant	-	NC_000008.11:g.38209013A>T	ExAC,gnomAD
BAG4	O95429	p.Pro218His	rs1405062637	missense variant	-	NC_000008.11:g.38209032C>A	gnomAD
BAG4	O95429	p.Tyr220Cys	rs564753927	missense variant	-	NC_000008.11:g.38209038A>G	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro221Arg	rs776788288	missense variant	-	NC_000008.11:g.38209041C>G	ExAC,gnomAD
BAG4	O95429	p.Gly223Glu	rs1350200091	missense variant	-	NC_000008.11:g.38209047G>A	gnomAD
BAG4	O95429	p.Asp224Val	rs1288739841	missense variant	-	NC_000008.11:g.38209050A>T	gnomAD
BAG4	O95429	p.Gly225Ala	rs1270524102	missense variant	-	NC_000008.11:g.38209053G>C	TOPMed
BAG4	O95429	p.Gly225Ser	rs145302681	missense variant	-	NC_000008.11:g.38209052G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg227His	rs770041398	missense variant	-	NC_000008.11:g.38209059G>A	ExAC,gnomAD
BAG4	O95429	p.Arg227Pro	rs770041398	missense variant	-	NC_000008.11:g.38209059G>C	ExAC,gnomAD
BAG4	O95429	p.Ser228Cys	rs369685431	missense variant	-	NC_000008.11:g.38209061A>T	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gln231Pro	rs1223355389	missense variant	-	NC_000008.11:g.38209071A>C	gnomAD
BAG4	O95429	p.Gly233Ala	rs560623799	missense variant	-	NC_000008.11:g.38209077G>C	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly233Val	rs560623799	missense variant	-	NC_000008.11:g.38209077G>T	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro234Leu	rs527912310	missense variant	-	NC_000008.11:g.38209080C>T	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Thr235IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.38209080_38209081insCATATGCTATAAG	NCI-TCGA
BAG4	O95429	p.Val236Ile	rs756741809	missense variant	-	NC_000008.11:g.38209085G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg237Gln	rs774897872	missense variant	-	NC_000008.11:g.38209089G>A	gnomAD
BAG4	O95429	p.Arg237Ter	rs778529050	stop gained	-	NC_000008.11:g.38209088C>T	ExAC,gnomAD
BAG4	O95429	p.Pro238Leu	rs759002547	missense variant	-	NC_000008.11:g.38209092C>T	ExAC,gnomAD
BAG4	O95429	p.Pro238Thr	rs750893793	missense variant	-	NC_000008.11:g.38209091C>A	ExAC,gnomAD
BAG4	O95429	p.Ala242Val	rs202100571	missense variant	-	NC_000008.11:g.38209104C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Trp243Ter	rs1378130085	stop gained	-	NC_000008.11:g.38209107G>A	gnomAD
BAG4	O95429	p.Ala244Pro	rs1394107982	missense variant	-	NC_000008.11:g.38209109G>C	gnomAD
BAG4	O95429	p.Ala248Thr	rs143665459	missense variant	-	NC_000008.11:g.38209121G>A	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly253Val	rs1274009953	missense variant	-	NC_000008.11:g.38209137G>T	gnomAD
BAG4	O95429	p.Gly253Ser	rs769758134	missense variant	-	NC_000008.11:g.38209136G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly253Asp	COSM3899946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38209137G>A	NCI-TCGA Cosmic
BAG4	O95429	p.Arg254His	rs759330494	missense variant	-	NC_000008.11:g.38209140G>A	ExAC,gnomAD
BAG4	O95429	p.Arg254Cys	rs1157493354	missense variant	-	NC_000008.11:g.38209139C>T	gnomAD
BAG4	O95429	p.Pro256Ala	rs772047151	missense variant	-	NC_000008.11:g.38209145C>G	ExAC,gnomAD
BAG4	O95429	p.Pro256Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38209145C>T	NCI-TCGA
BAG4	O95429	p.Trp257Arg	rs775104347	missense variant	-	NC_000008.11:g.38209148T>C	ExAC,gnomAD
BAG4	O95429	p.Ser259Thr	rs201302425	missense variant	-	NC_000008.11:g.38209154T>A	1000Genomes
BAG4	O95429	p.Ser259Leu	rs1180491940	missense variant	-	NC_000008.11:g.38209155C>T	gnomAD
BAG4	O95429	p.Ala261Val	COSM4753086	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38209161C>T	NCI-TCGA Cosmic
BAG4	O95429	p.Ser263Leu	rs761524422	missense variant	-	NC_000008.11:g.38209167C>T	ExAC,gnomAD
BAG4	O95429	p.Ala264Thr	rs1431891148	missense variant	-	NC_000008.11:g.38209169G>A	gnomAD
BAG4	O95429	p.Pro266Arg	rs376249751	missense variant	-	NC_000008.11:g.38209176C>G	ESP,ExAC,gnomAD
BAG4	O95429	p.Pro266Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38209175C>A	NCI-TCGA
BAG4	O95429	p.Gly267Ser	rs561418536	missense variant	-	NC_000008.11:g.38209178G>A	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly267Asp	rs766943424	missense variant	-	NC_000008.11:g.38209179G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Asn268Ser	rs1470467785	missense variant	-	NC_000008.11:g.38209182A>G	gnomAD
BAG4	O95429	p.Leu269Phe	rs752159666	missense variant	-	NC_000008.11:g.38209184C>T	ExAC,gnomAD
BAG4	O95429	p.Met271Val	rs755361863	missense variant	-	NC_000008.11:g.38209190A>G	ExAC,gnomAD
BAG4	O95429	p.Met271Thr	rs1383344317	missense variant	-	NC_000008.11:g.38209191T>C	TOPMed,gnomAD
BAG4	O95429	p.Ser274Gly	rs781732296	missense variant	-	NC_000008.11:g.38209199A>G	ExAC,gnomAD
BAG4	O95429	p.Ser274Asn	rs768134811	missense variant	-	NC_000008.11:g.38209200G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser274Ile	rs768134811	missense variant	-	NC_000008.11:g.38209200G>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Thr275Ser	rs1363082269	missense variant	-	NC_000008.11:g.38209203C>G	gnomAD
BAG4	O95429	p.Pro277Ser	rs756369263	missense variant	-	NC_000008.11:g.38209208C>T	ExAC,gnomAD
BAG4	O95429	p.Ser283Thr	rs1266378708	missense variant	-	NC_000008.11:g.38209226T>A	TOPMed
BAG4	O95429	p.Pro284Arg	rs777644395	missense variant	-	NC_000008.11:g.38209230C>G	ExAC
BAG4	O95429	p.Pro287Arg	rs1224287051	missense variant	-	NC_000008.11:g.38209239C>G	TOPMed
BAG4	O95429	p.Pro288Ala	rs771854090	missense variant	-	NC_000008.11:g.38209241C>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro288Thr	rs771854090	missense variant	-	NC_000008.11:g.38209241C>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro288LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.38209238C>-	NCI-TCGA
BAG4	O95429	p.Ser289Leu	rs1258119634	missense variant	-	NC_000008.11:g.38209245C>T	gnomAD
BAG4	O95429	p.Pro290His	rs531742224	missense variant	-	NC_000008.11:g.38209248C>A	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro290Leu	rs531742224	missense variant	-	NC_000008.11:g.38209248C>T	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro290Ser	rs775387645	missense variant	-	NC_000008.11:g.38209247C>T	ExAC,gnomAD
BAG4	O95429	p.Pro291Ser	rs768439295	missense variant	-	NC_000008.11:g.38209250C>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro291Gln	rs550146149	missense variant	-	NC_000008.11:g.38209251C>A	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Pro291Arg	rs550146149	missense variant	-	NC_000008.11:g.38209251C>G	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Pro291Leu	rs550146149	missense variant	-	NC_000008.11:g.38209251C>T	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Pro291Ala	rs768439295	missense variant	-	NC_000008.11:g.38209250C>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Asp297Glu	rs147569371	missense variant	-	NC_000008.11:g.38210010T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Pro301Leu	rs1287550754	missense variant	-	NC_000008.11:g.38210021C>T	TOPMed
BAG4	O95429	p.Tyr302Cys	rs1221260002	missense variant	-	NC_000008.11:g.38210024A>G	TOPMed
BAG4	O95429	p.Tyr302His	rs774010873	missense variant	-	NC_000008.11:g.38210023T>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser308Cys	rs140547293	missense variant	-	NC_000008.11:g.38210041A>T	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Met309Thr	rs753059239	missense variant	-	NC_000008.11:g.38210045T>C	ExAC,gnomAD
BAG4	O95429	p.Arg311Gly	rs534078625	missense variant	-	NC_000008.11:g.38210050C>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg311Trp	rs534078625	missense variant	-	NC_000008.11:g.38210050C>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Arg311Gln	rs1482685022	missense variant	-	NC_000008.11:g.38210051G>A	gnomAD
BAG4	O95429	p.His312Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210053C>A	NCI-TCGA
BAG4	O95429	p.Asn313Ser	rs140266447	missense variant	-	NC_000008.11:g.38210057A>G	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Phe314Leu	rs757482419	missense variant	-	NC_000008.11:g.38210061T>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Cys316Phe	rs1437808525	missense variant	-	NC_000008.11:g.38210066G>T	TOPMed
BAG4	O95429	p.Ser317Asn	rs778910259	missense variant	-	NC_000008.11:g.38210069G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser317Gly	rs1470411092	missense variant	-	NC_000008.11:g.38210068A>G	gnomAD
BAG4	O95429	p.Val318Ile	rs1413368237	missense variant	-	NC_000008.11:g.38210071G>A	gnomAD
BAG4	O95429	p.Val318Ala	rs143644289	missense variant	-	NC_000008.11:g.38210072T>C	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.His319Tyr	rs1165557109	missense variant	-	NC_000008.11:g.38210074C>T	TOPMed,gnomAD
BAG4	O95429	p.Tyr321Cys	rs565621251	missense variant	-	NC_000008.11:g.38210081A>G	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Glu322Lys	rs765457265	missense variant	-	NC_000008.11:g.38210083G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Glu322Ala	rs1337874330	missense variant	-	NC_000008.11:g.38210084A>C	gnomAD
BAG4	O95429	p.Ser324Leu	rs748087187	missense variant	-	NC_000008.11:g.38210090C>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Asn328Lys	rs748912076	missense variant	-	NC_000008.11:g.38210103C>A	ExAC,gnomAD
BAG4	O95429	p.Asn329Asp	rs1173086087	missense variant	-	NC_000008.11:g.38210104A>G	TOPMed
BAG4	O95429	p.Asn329Ser	rs770712519	missense variant	-	NC_000008.11:g.38210105A>G	ExAC,gnomAD
BAG4	O95429	p.Asp330Asn	rs201044060	missense variant	-	NC_000008.11:g.38210107G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Asp330Gly	rs866888503	missense variant	-	NC_000008.11:g.38210108A>G	TOPMed,gnomAD
BAG4	O95429	p.Asp330Ala	rs866888503	missense variant	-	NC_000008.11:g.38210108A>C	TOPMed,gnomAD
BAG4	O95429	p.Ser332Leu	rs759136435	missense variant	-	NC_000008.11:g.38210114C>T	ExAC,gnomAD
BAG4	O95429	p.Ser332Ter	COSM750488	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.38210114C>A	NCI-TCGA Cosmic
BAG4	O95429	p.Asp333Tyr	rs771754958	missense variant	-	NC_000008.11:g.38210116G>T	ExAC,gnomAD
BAG4	O95429	p.Asp333His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210116G>C	NCI-TCGA
BAG4	O95429	p.Leu334Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210119C>A	NCI-TCGA
BAG4	O95429	p.Leu335Ser	rs199793591	missense variant	-	NC_000008.11:g.38210123T>C	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Asp336His	rs1443010380	missense variant	-	NC_000008.11:g.38210125G>C	gnomAD
BAG4	O95429	p.Val339Ile	rs761155446	missense variant	-	NC_000008.11:g.38210134G>A	ExAC,gnomAD
BAG4	O95429	p.Gln340Arg	rs764510085	missense variant	-	NC_000008.11:g.38210138A>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gln340Leu	rs764510085	missense variant	-	NC_000008.11:g.38210138A>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser342Ile	rs761955958	missense variant	-	NC_000008.11:g.38210144G>T	ExAC,gnomAD
BAG4	O95429	p.Ala343Val	rs1483277670	missense variant	-	NC_000008.11:g.38210147C>T	TOPMed
BAG4	O95429	p.Glu344Gln	rs548360176	missense variant	-	NC_000008.11:g.38210149G>C	1000Genomes,ExAC,gnomAD
BAG4	O95429	p.Pro345Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210152C>T	NCI-TCGA
BAG4	O95429	p.Gln346His	rs750456419	missense variant	-	NC_000008.11:g.38210157G>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Asn350Ser	rs758453361	missense variant	-	NC_000008.11:g.38210168A>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser353Asn	rs1339137430	missense variant	-	NC_000008.11:g.38210177G>A	gnomAD
BAG4	O95429	p.His355Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210182C>T	NCI-TCGA
BAG4	O95429	p.Pro356His	rs1370042268	missense variant	-	NC_000008.11:g.38210186C>A	gnomAD
BAG4	O95429	p.Asn358Ser	rs1454223699	missense variant	-	NC_000008.11:g.38210192A>G	gnomAD
BAG4	O95429	p.Asp360Glu	rs780173164	missense variant	-	NC_000008.11:g.38210199T>A	ExAC,gnomAD
BAG4	O95429	p.Ser362Asn	rs1363773740	missense variant	-	NC_000008.11:g.38210204G>A	TOPMed,gnomAD
BAG4	O95429	p.Ser363Ile	rs752663779	missense variant	-	NC_000008.11:g.38210207G>T	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser363Arg	rs756015823	missense variant	-	NC_000008.11:g.38210208C>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser364Asn	rs777553174	missense variant	-	NC_000008.11:g.38210210G>A	ExAC,gnomAD
BAG4	O95429	p.Leu365Val	rs1199871725	missense variant	-	NC_000008.11:g.38210212C>G	gnomAD
BAG4	O95429	p.Glu367Val	rs770657655	missense variant	-	NC_000008.11:g.38210219A>T	ExAC,gnomAD
BAG4	O95429	p.Cys369Tyr	rs778684922	missense variant	-	NC_000008.11:g.38210225G>A	ExAC,gnomAD
BAG4	O95429	p.Val370Ile	rs1305222219	missense variant	-	NC_000008.11:g.38210227G>A	TOPMed,gnomAD
BAG4	O95429	p.Pro371Ala	rs1244010787	missense variant	-	NC_000008.11:g.38210230C>G	gnomAD
BAG4	O95429	p.Ser372Leu	rs1448891748	missense variant	-	NC_000008.11:g.38210234C>T	gnomAD
BAG4	O95429	p.Ser375Gly	rs1351503289	missense variant	-	NC_000008.11:g.38210242A>G	TOPMed
BAG4	O95429	p.Pro377Leu	rs376216479	missense variant	-	NC_000008.11:g.38210249C>T	ESP,ExAC,gnomAD
BAG4	O95429	p.Pro377Ser	rs745554122	missense variant	-	NC_000008.11:g.38210248C>T	ExAC,gnomAD
BAG4	O95429	p.Pro378Leu	rs140388982	missense variant	-	NC_000008.11:g.38210252C>T	ESP,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ser379Asn	rs1471178107	missense variant	-	NC_000008.11:g.38210255G>A	gnomAD
BAG4	O95429	p.Lys381Ter	rs1336921722	stop gained	-	NC_000008.11:g.38210260A>T	gnomAD
BAG4	O95429	p.Ile383ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.38210266_38210267insCACAG	NCI-TCGA
BAG4	O95429	p.Ile383AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.38210259_38210260insA	NCI-TCGA
BAG4	O95429	p.Ile383SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.38210260A>-	NCI-TCGA
BAG4	O95429	p.Ile384Lys	rs769048022	missense variant	-	NC_000008.11:g.38210270T>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ile384Met	rs777018543	missense variant	-	NC_000008.11:g.38210271A>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.His385Gln	rs1472761233	missense variant	-	NC_000008.11:g.38210274T>A	TOPMed
BAG4	O95429	p.His385Asn	COSM1099555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38210272C>A	NCI-TCGA Cosmic
BAG4	O95429	p.His385Arg	rs762191338	missense variant	-	NC_000008.11:g.38210273A>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Glu388Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210283G>C	NCI-TCGA
BAG4	O95429	p.Val390Ala	rs371081339	missense variant	-	NC_000008.11:g.38210288T>C	ESP,ExAC,gnomAD
BAG4	O95429	p.Gln391Arg	rs1273050892	missense variant	-	NC_000008.11:g.38210291A>G	gnomAD
BAG4	O95429	p.Gln391His	rs376393739	missense variant	-	NC_000008.11:g.38210292G>C	ESP,TOPMed,gnomAD
BAG4	O95429	p.Gln395Glu	rs1223917007	missense variant	-	NC_000008.11:g.38210302C>G	gnomAD
BAG4	O95429	p.Glu396Gly	rs773393692	missense variant	-	NC_000008.11:g.38210306A>G	ExAC,gnomAD
BAG4	O95429	p.Val397Leu	rs150352965	missense variant	-	NC_000008.11:g.38210308G>T	ESP,TOPMed,gnomAD
BAG4	O95429	p.Val397Ile	rs150352965	missense variant	-	NC_000008.11:g.38210308G>A	ESP,TOPMed,gnomAD
BAG4	O95429	p.Glu399Ter	rs1288051012	stop gained	-	NC_000008.11:g.38210314G>T	-
BAG4	O95429	p.Val401Ile	rs1022951229	missense variant	-	NC_000008.11:g.38210320G>A	TOPMed,gnomAD
BAG4	O95429	p.Thr405Ala	rs756033948	missense variant	-	NC_000008.11:g.38210332A>G	ExAC,gnomAD
BAG4	O95429	p.Thr405AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.38210324_38210325insA	NCI-TCGA
BAG4	O95429	p.Asp406Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210336A>T	NCI-TCGA
BAG4	O95429	p.Met415Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210364G>A	NCI-TCGA
BAG4	O95429	p.Lys418Glu	rs1203592292	missense variant	-	NC_000008.11:g.38210371A>G	TOPMed
BAG4	O95429	p.Glu422Gln	rs978650530	missense variant	-	NC_000008.11:g.38210383G>C	TOPMed,gnomAD
BAG4	O95429	p.Val426Ile	rs558393579	missense variant	-	NC_000008.11:g.38210395G>A	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Val426Leu	rs558393579	missense variant	-	NC_000008.11:g.38210395G>C	1000Genomes,ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly429Arg	rs745504870	missense variant	-	NC_000008.11:g.38210404G>A	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Gly430Ser	rs1285038088	missense variant	-	NC_000008.11:g.38210407G>A	TOPMed
BAG4	O95429	p.Asp432Gly	rs758138648	missense variant	-	NC_000008.11:g.38210414A>G	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Asp432Tyr	rs1385766485	missense variant	-	NC_000008.11:g.38210413G>T	gnomAD
BAG4	O95429	p.Arg435Trp	rs779550882	missense variant	-	NC_000008.11:g.38210422C>T	ExAC,gnomAD
BAG4	O95429	p.Ala437Ser	rs769161822	missense variant	-	NC_000008.11:g.38210428G>T	ExAC,gnomAD
BAG4	O95429	p.Glu440Gln	rs748697660	missense variant	-	NC_000008.11:g.38210437G>C	ExAC,gnomAD
BAG4	O95429	p.Glu440Asp	rs770128549	missense variant	-	NC_000008.11:g.38210439G>C	ExAC,TOPMed,gnomAD
BAG4	O95429	p.Ala441Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210441C>T	NCI-TCGA
BAG4	O95429	p.Val442Ile	rs988634579	missense variant	-	NC_000008.11:g.38210443G>A	TOPMed
BAG4	O95429	p.Cys443ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.38210442_38210445TGTT>-	NCI-TCGA
BAG4	O95429	p.Lys444Gln	COSM4936327	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38210449A>C	NCI-TCGA Cosmic
BAG4	O95429	p.Ala447Val	rs773577269	missense variant	-	NC_000008.11:g.38210459C>T	ExAC,gnomAD
BAG4	O95429	p.Ile448Thr	rs1267299411	missense variant	-	NC_000008.11:g.38210462T>C	gnomAD
BAG4	O95429	p.Leu449Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210464C>A	NCI-TCGA
BAG4	O95429	p.Glu450Lys	rs1490981856	missense variant	-	NC_000008.11:g.38210467G>A	gnomAD
BAG4	O95429	p.Glu450Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210469A>C	NCI-TCGA
BAG4	O95429	p.Lys451Asn	rs1156721587	missense variant	-	NC_000008.11:g.38210472A>T	TOPMed
BAG4	O95429	p.Lys451Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38210471A>C	NCI-TCGA
BAG4	O95429	p.Leu452Ile	rs1200847346	missense variant	-	NC_000008.11:g.38210473T>A	gnomAD
BAG4	O95429	p.Leu452Ter	rs1251521456	stop gained	-	NC_000008.11:g.38210474T>A	gnomAD
BAG4	O95429	p.Glu453Lys	rs1265688831	missense variant	-	NC_000008.11:g.38210476G>A	TOPMed,gnomAD
BAG4	O95429	p.Gly456Glu	rs763091825	missense variant	-	NC_000008.11:g.38210486G>A	ExAC,gnomAD
BAG4	O95429	p.Gly456ArgPheSerTerUnkUnk	COSM1456885	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.38210476_38210477insA	NCI-TCGA Cosmic
BAG4	O95429	p.Gly456AspPheSerTerUnk	COSM1456886	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.38210477A>-	NCI-TCGA Cosmic
TGDS	O95455	p.Ser2Leu	rs1269740294	missense variant	-	NC_000013.11:g.94596132G>A	gnomAD
TGDS	O95455	p.Ser2Ala	rs1434083022	missense variant	-	NC_000013.11:g.94596133A>C	gnomAD
TGDS	O95455	p.Ala3Val	rs374701618	missense variant	-	NC_000013.11:g.94596129G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ala4Val	rs755749986	missense variant	-	NC_000013.11:g.94596126G>A	ExAC,gnomAD
TGDS	O95455	p.Ala4Thr	rs765805073	missense variant	-	NC_000013.11:g.94596127C>T	ExAC,gnomAD
TGDS	O95455	p.Cys5Trp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94596122A>C	NCI-TCGA
TGDS	O95455	p.Cys5Gly	rs1261136477	missense variant	-	NC_000013.11:g.94596124A>C	gnomAD
TGDS	O95455	p.Glu7Asp	rs766990686	missense variant	-	NC_000013.11:g.94596116C>A	ExAC,gnomAD
TGDS	O95455	p.Glu7Lys	rs1443502871	missense variant	-	NC_000013.11:g.94596118C>T	TOPMed
TGDS	O95455	p.Glu8Asp	rs200877310	missense variant	-	NC_000013.11:g.94596113T>A	1000Genomes,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Glu8Gln	rs1181173239	missense variant	-	NC_000013.11:g.94596115C>G	TOPMed
TGDS	O95455	p.Pro9Ser	rs202097673	missense variant	-	NC_000013.11:g.94596112G>A	1000Genomes,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Pro9Ala	rs202097673	missense variant	-	NC_000013.11:g.94596112G>C	1000Genomes,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Pro9Arg	rs762709267	missense variant	-	NC_000013.11:g.94596111G>C	ExAC,gnomAD
TGDS	O95455	p.Trp10Cys	rs745748712	missense variant	-	NC_000013.11:g.94596107C>G	ExAC,gnomAD
TGDS	O95455	p.Trp10Arg	rs370526233	missense variant	-	NC_000013.11:g.94596109A>G	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Trp10Gly	rs370526233	missense variant	-	NC_000013.11:g.94596109A>C	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Leu12Phe	rs151012980	missense variant	-	NC_000013.11:g.94596103G>A	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Pro13Ser	rs771002382	missense variant	-	NC_000013.11:g.94596100G>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Pro13Leu	rs1247681682	missense variant	-	NC_000013.11:g.94596099G>A	gnomAD
TGDS	O95455	p.Gly14Arg	rs937003782	missense variant	-	NC_000013.11:g.94596097C>G	TOPMed,gnomAD
TGDS	O95455	p.Gly15Arg	rs34991132	missense variant	-	NC_000013.11:g.94596094C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Gly15Ser	rs34991132	missense variant	-	NC_000013.11:g.94596094C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Gly15Ser	rs34991132	missense variant	-	NC_000013.11:g.94596094C>T	UniProt,dbSNP
TGDS	O95455	p.Gly15Ser	VAR_049122	missense variant	-	NC_000013.11:g.94596094C>T	UniProt
TGDS	O95455	p.Phe16Ile	rs758873634	missense variant	-	NC_000013.11:g.94596091A>T	ExAC,gnomAD
TGDS	O95455	p.Ala17Val	rs1157277857	missense variant	-	NC_000013.11:g.94596087G>A	gnomAD
TGDS	O95455	p.Lys18Arg	rs748516684	missense variant	-	NC_000013.11:g.94596084T>C	ExAC,gnomAD
TGDS	O95455	p.Thr23Ser	rs1306116133	missense variant	-	NC_000013.11:g.94596069G>C	TOPMed
TGDS	O95455	p.Gly24Ser	rs1180626621	missense variant	-	NC_000013.11:g.94596067C>T	gnomAD
TGDS	O95455	p.Ala26Thr	rs779619758	missense variant	-	NC_000013.11:g.94596061C>T	ExAC,gnomAD
TGDS	O95455	p.Ala26Ser	rs779619758	missense variant	-	NC_000013.11:g.94596061C>A	ExAC,gnomAD
TGDS	O95455	p.Gly27Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94596057C>T	NCI-TCGA
TGDS	O95455	p.Phe28Leu	rs1241216031	missense variant	-	NC_000013.11:g.94596053G>T	gnomAD
TGDS	O95455	p.Ala30Val	rs751069260	missense variant	-	NC_000013.11:g.94593905G>A	ExAC,gnomAD
TGDS	O95455	p.Ser31Leu	rs1263619932	missense variant	-	NC_000013.11:g.94593902G>A	gnomAD
TGDS	O95455	p.His32Arg	rs765037542	missense variant	-	NC_000013.11:g.94593899T>C	ExAC,gnomAD
TGDS	O95455	p.His32Tyr	rs752306743	missense variant	-	NC_000013.11:g.94593900G>A	ExAC,gnomAD
TGDS	O95455	p.Met33Val	rs144478268	missense variant	-	NC_000013.11:g.94593897T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Met33Thr	rs1039955963	missense variant	-	NC_000013.11:g.94593896A>G	gnomAD
TGDS	O95455	p.Val35Ile	rs1250187037	missense variant	-	NC_000013.11:g.94593891C>T	gnomAD
TGDS	O95455	p.Glu39Gly	rs766334560	missense variant	-	NC_000013.11:g.94593878T>C	ExAC,gnomAD
TGDS	O95455	p.Asp40Gly	rs1280468078	missense variant	-	NC_000013.11:g.94593875T>C	gnomAD
TGDS	O95455	p.Ile46Val	rs773350207	missense variant	-	NC_000013.11:g.94593858T>C	ExAC,gnomAD
TGDS	O95455	p.Ile46Leu	rs773350207	missense variant	-	NC_000013.11:g.94593858T>G	ExAC,gnomAD
TGDS	O95455	p.Ile47Val	rs1411467881	missense variant	-	NC_000013.11:g.94593855T>C	TOPMed
TGDS	O95455	p.Leu49Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94593849G>C	NCI-TCGA
TGDS	O95455	p.Asp50Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94593846C>A	NCI-TCGA
TGDS	O95455	p.Tyr54Cys	rs1231614540	missense variant	-	NC_000013.11:g.94592302T>C	TOPMed
TGDS	O95455	p.Cys55Ser	rs761955397	missense variant	-	NC_000013.11:g.94592299C>G	ExAC,gnomAD
TGDS	O95455	p.Ala56Val	COSM4048787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94592296G>A	NCI-TCGA Cosmic
TGDS	O95455	p.Asn60Lys	rs764401457	missense variant	-	NC_000013.11:g.94592283A>T	ExAC,gnomAD
TGDS	O95455	p.Asn60Thr	rs1378049960	missense variant	-	NC_000013.11:g.94592284T>G	TOPMed,gnomAD
TGDS	O95455	p.Asn60Lys	RCV000624236	missense variant	Inborn genetic diseases	NC_000013.11:g.94592283A>T	ClinVar
TGDS	O95455	p.Ile64Thr	rs763028354	missense variant	-	NC_000013.11:g.94592272A>G	ExAC,gnomAD
TGDS	O95455	p.Ser65Phe	rs775927957	missense variant	-	NC_000013.11:g.94592269G>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Gln68Arg	rs770016149	missense variant	-	NC_000013.11:g.94592260T>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Lys71Arg	rs1221199075	missense variant	-	NC_000013.11:g.94592251T>C	gnomAD
TGDS	O95455	p.Lys71Thr	COSM948927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94592251T>G	NCI-TCGA Cosmic
TGDS	O95455	p.Phe72Cys	COSM948926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94592248A>C	NCI-TCGA Cosmic
TGDS	O95455	p.Ile73Val	rs1267795918	missense variant	-	NC_000013.11:g.94592246T>C	gnomAD
TGDS	O95455	p.Gln74His	rs746410117	missense variant	-	NC_000013.11:g.94592241C>A	ExAC,gnomAD
TGDS	O95455	p.Ile77Met	rs1220935898	missense variant	-	NC_000013.11:g.94590935T>C	gnomAD
TGDS	O95455	p.Ile77Val	rs573212730	missense variant	-	NC_000013.11:g.94590937T>C	1000Genomes,ExAC,gnomAD
TGDS	O95455	p.Ile77Thr	rs146404830	missense variant	-	NC_000013.11:g.94590936A>G	1000Genomes,ExAC,gnomAD
TGDS	O95455	p.Cys78Arg	rs1322347232	missense variant	-	NC_000013.11:g.94590934A>G	TOPMed,gnomAD
TGDS	O95455	p.Ser80Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94590927G>C	NCI-TCGA
TGDS	O95455	p.Phe82Tyr	rs1290576275	missense variant	-	NC_000013.11:g.94590921A>T	gnomAD
TGDS	O95455	p.Val83Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94590918A>C	NCI-TCGA
TGDS	O95455	p.Val83Ala	rs373246659	missense variant	-	NC_000013.11:g.94590918A>G	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Glu88Lys	rs1229206078	missense variant	-	NC_000013.11:g.94590904C>T	TOPMed
TGDS	O95455	p.Thr89Lys	rs751503526	missense variant	-	NC_000013.11:g.94590900G>T	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Glu90Gly	rs724160004	missense variant	-	NC_000013.11:g.94590897T>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Glu90Gly	RCV000149819	missense variant	Catel Manzke syndrome (CATMANS)	NC_000013.11:g.94590897T>C	ClinVar
TGDS	O95455	p.Glu90Lys	rs777933953	missense variant	-	NC_000013.11:g.94590898C>T	ExAC,gnomAD
TGDS	O95455	p.Glu90Asp	COSM264019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94590896C>A	NCI-TCGA Cosmic
TGDS	O95455	p.Lys91Ter	RCV000149821	frameshift	Catel Manzke syndrome (CATMANS)	NC_000013.11:g.94590896_94590897CT[1]	ClinVar
TGDS	O95455	p.Ile94Met	rs765371325	missense variant	-	NC_000013.11:g.94590884T>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ile94Thr	rs1429058726	missense variant	-	NC_000013.11:g.94590885A>G	gnomAD
TGDS	O95455	p.Ile94Val	rs753002918	missense variant	-	NC_000013.11:g.94590886T>C	ExAC,gnomAD
TGDS	O95455	p.Leu96Ile	RCV000622534	missense variant	Inborn genetic diseases	NC_000013.11:g.94590880G>T	ClinVar
TGDS	O95455	p.Leu96Ile	rs754214510	missense variant	-	NC_000013.11:g.94590880G>T	ExAC,gnomAD
TGDS	O95455	p.His97Tyr	rs770771817	missense variant	-	NC_000013.11:g.94590877G>A	gnomAD
TGDS	O95455	p.Phe98Leu	rs727502808	missense variant	-	NC_000013.11:g.94590872A>C	TOPMed,gnomAD
TGDS	O95455	p.Phe98Leu	RCV000149820	missense variant	Catel Manzke syndrome (CATMANS)	NC_000013.11:g.94590872A>C	ClinVar
TGDS	O95455	p.Ala99Val	rs1267159417	missense variant	-	NC_000013.11:g.94590870G>A	TOPMed
TGDS	O95455	p.Ala100Thr	rs140430952	missense variant	-	NC_000013.11:g.94590868C>T	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ala100Ser	rs140430952	missense variant	-	NC_000013.11:g.94590868C>A	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ala100Ser	rs140430952	missense variant	Catel-Manzke syndrome (CATMANS)	NC_000013.11:g.94590868C>A	UniProt,dbSNP
TGDS	O95455	p.Ala100Ser	VAR_072684	missense variant	Catel-Manzke syndrome (CATMANS)	NC_000013.11:g.94590868C>A	UniProt
TGDS	O95455	p.Ala100Val	rs374669948	missense variant	-	NC_000013.11:g.94590867G>A	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ala100Ser	RCV000624586	missense variant	Inborn genetic diseases	NC_000013.11:g.94590868C>A	ClinVar
TGDS	O95455	p.Ala100Ser	RCV000149817	missense variant	Catel Manzke syndrome (CATMANS)	NC_000013.11:g.94590868C>A	ClinVar
TGDS	O95455	p.Gln101Pro	rs1264976815	missense variant	-	NC_000013.11:g.94590864T>G	TOPMed,gnomAD
TGDS	O95455	p.Thr102Ile	rs775273838	missense variant	-	NC_000013.11:g.94590861G>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.His103Pro	rs147139240	missense variant	-	NC_000013.11:g.94590858T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.His103Tyr	rs1461943144	missense variant	-	NC_000013.11:g.94590859G>A	TOPMed
TGDS	O95455	p.His103Arg	rs147139240	missense variant	-	NC_000013.11:g.94590858T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.His103Leu	rs147139240	missense variant	-	NC_000013.11:g.94590858T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Val104Ile	rs781164643	missense variant	-	NC_000013.11:g.94590856C>T	ExAC
TGDS	O95455	p.Asp105Glu	rs774871143	missense variant	-	NC_000013.11:g.94583235A>T	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ser107Pro	rs1232200518	missense variant	-	NC_000013.11:g.94583231A>G	TOPMed,gnomAD
TGDS	O95455	p.Val109Leu	rs139304427	missense variant	-	NC_000013.11:g.94583225C>A	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Val109Ile	rs139304427	missense variant	-	NC_000013.11:g.94583225C>T	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Arg110His	rs202068418	missense variant	-	NC_000013.11:g.94583221C>T	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Arg110Cys	rs746793935	missense variant	-	NC_000013.11:g.94583222G>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ala111Gly	rs748051295	missense variant	-	NC_000013.11:g.94583218G>C	ExAC,gnomAD
TGDS	O95455	p.Ala111Thr	rs771915710	missense variant	-	NC_000013.11:g.94583219C>T	ExAC,gnomAD
TGDS	O95455	p.Glu113Ter	rs778886182	stop gained	-	NC_000013.11:g.94583213C>A	ExAC,gnomAD
TGDS	O95455	p.Tyr116Cys	rs189838148	missense variant	-	NC_000013.11:g.94583203T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Val117Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94583200A>G	NCI-TCGA
TGDS	O95455	p.Asn118Asp	rs559787839	missense variant	-	NC_000013.11:g.94583198T>C	1000Genomes,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Asn118Ser	rs780215822	missense variant	-	NC_000013.11:g.94583197T>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Tyr120His	rs375550384	missense variant	-	NC_000013.11:g.94583192A>G	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Tyr120Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94583191T>C	NCI-TCGA
TGDS	O95455	p.Thr122Ile	rs368046527	missense variant	-	NC_000013.11:g.94583185G>A	ESP,ExAC,gnomAD
TGDS	O95455	p.His123Gln	rs767859800	missense variant	-	NC_000013.11:g.94583181G>T	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Val124Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94583179A>C	NCI-TCGA
TGDS	O95455	p.Val124Ile	rs757740323	missense variant	-	NC_000013.11:g.94583180C>T	ExAC,gnomAD
TGDS	O95455	p.Val126Ile	rs1282092360	missense variant	-	NC_000013.11:g.94583174C>T	TOPMed,gnomAD
TGDS	O95455	p.Ala129Thr	rs1214002110	missense variant	-	NC_000013.11:g.94583165C>T	gnomAD
TGDS	O95455	p.Ala129Val	rs1352388212	missense variant	-	NC_000013.11:g.94583164G>A	gnomAD
TGDS	O95455	p.His130Tyr	rs752056819	missense variant	-	NC_000013.11:g.94583162G>A	ExAC,gnomAD
TGDS	O95455	p.His130Arg	rs764890113	missense variant	-	NC_000013.11:g.94583161T>C	ExAC,gnomAD
TGDS	O95455	p.Val140Ile	rs1396984304	missense variant	-	NC_000013.11:g.94583132C>T	gnomAD
TGDS	O95455	p.Val140Ala	COSM4048785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94583131A>G	NCI-TCGA Cosmic
TGDS	O95455	p.Asp143Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94583123C>T	NCI-TCGA
TGDS	O95455	p.Val145Ile	rs776492009	missense variant	-	NC_000013.11:g.94583117C>T	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Gly148Asp	rs1361360452	missense variant	-	NC_000013.11:g.94583107C>T	gnomAD
TGDS	O95455	p.Gly148Ser	rs1014479540	missense variant	-	NC_000013.11:g.94583108C>T	TOPMed
TGDS	O95455	p.Asp151Tyr	rs76632425	missense variant	-	NC_000013.11:g.94583099C>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Asp151Asn	rs76632425	missense variant	-	NC_000013.11:g.94583099C>T	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Phe154Leu	rs1168305530	missense variant	-	NC_000013.11:g.94581186A>G	TOPMed,gnomAD
TGDS	O95455	p.Asp155Val	rs753410304	missense variant	-	NC_000013.11:g.94581182T>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Asp155Gly	rs753410304	missense variant	-	NC_000013.11:g.94581182T>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Glu156Gly	rs1442649493	missense variant	-	NC_000013.11:g.94581179T>C	TOPMed
TGDS	O95455	p.Ser158Leu	rs765919204	missense variant	-	NC_000013.11:g.94581173G>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Gln161Glu	rs772868057	missense variant	-	NC_000013.11:g.94581165G>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Gln161Ter	rs772868057	stop gained	-	NC_000013.11:g.94581165G>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Thr163Ala	rs1266030268	missense variant	-	NC_000013.11:g.94581159T>C	TOPMed,gnomAD
TGDS	O95455	p.Asn164His	rs767261051	missense variant	-	NC_000013.11:g.94581156T>G	ExAC,gnomAD
TGDS	O95455	p.Asn164Asp	rs767261051	missense variant	-	NC_000013.11:g.94581156T>C	ExAC,gnomAD
TGDS	O95455	p.Pro165Leu	rs761635228	missense variant	-	NC_000013.11:g.94581152G>A	ExAC,gnomAD
TGDS	O95455	p.Pro165Arg	rs761635228	missense variant	-	NC_000013.11:g.94581152G>C	ExAC,gnomAD
TGDS	O95455	p.Tyr166His	rs1315778035	missense variant	-	NC_000013.11:g.94581150A>G	TOPMed
TGDS	O95455	p.Tyr166Cys	rs774337095	missense variant	-	NC_000013.11:g.94581149T>C	ExAC,gnomAD
TGDS	O95455	p.Ala167Thr	rs749160631	missense variant	-	NC_000013.11:g.94581147C>T	ExAC,gnomAD
TGDS	O95455	p.Ser168Ala	rs769873986	missense variant	-	NC_000013.11:g.94581144A>C	ExAC,gnomAD
TGDS	O95455	p.Ser169Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94581140G>C	NCI-TCGA
TGDS	O95455	p.Ala172Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94581131G>T	NCI-TCGA
TGDS	O95455	p.Cys175Trp	COSM3399459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94581121A>C	NCI-TCGA Cosmic
TGDS	O95455	p.Val177Leu	rs1382743725	missense variant	-	NC_000013.11:g.94581117C>A	TOPMed
TGDS	O95455	p.Gln178Pro	rs1443138467	missense variant	-	NC_000013.11:g.94581113T>G	gnomAD
TGDS	O95455	p.Gln178Ter	rs781446713	stop gained	-	NC_000013.11:g.94581114G>A	ExAC,gnomAD
TGDS	O95455	p.Ser179Thr	rs771269493	missense variant	-	NC_000013.11:g.94581111A>T	ExAC,gnomAD
TGDS	O95455	p.Tyr180Asn	rs747362303	missense variant	-	NC_000013.11:g.94581108A>T	ExAC,gnomAD
TGDS	O95455	p.Tyr180Cys	rs1244338556	missense variant	-	NC_000013.11:g.94581107T>C	TOPMed
TGDS	O95455	p.Tyr180Ter	rs778224794	stop gained	-	NC_000013.11:g.94581106G>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Glu182Lys	rs1419957473	missense variant	-	NC_000013.11:g.94581102C>T	gnomAD
TGDS	O95455	p.Gln183Ter	rs370484533	stop gained	-	NC_000013.11:g.94581099G>A	ExAC,gnomAD
TGDS	O95455	p.Gln183Arg	rs1044523436	missense variant	-	NC_000013.11:g.94581098T>C	TOPMed,gnomAD
TGDS	O95455	p.Lys185Thr	rs1376678181	missense variant	-	NC_000013.11:g.94581092T>G	gnomAD
TGDS	O95455	p.Lys185Arg	rs1376678181	missense variant	-	NC_000013.11:g.94581092T>C	gnomAD
TGDS	O95455	p.Pro187Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94579950G>A	NCI-TCGA
TGDS	O95455	p.Val188Phe	rs1183728299	missense variant	-	NC_000013.11:g.94579947C>A	TOPMed
TGDS	O95455	p.Thr191Ile	rs375494440	missense variant	-	NC_000013.11:g.94579937G>A	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ser193Asn	rs748710870	missense variant	-	NC_000013.11:g.94579931C>T	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Pro199Ala	rs1351650281	missense variant	-	NC_000013.11:g.94579914G>C	gnomAD
TGDS	O95455	p.Pro199Leu	rs1285368015	missense variant	-	NC_000013.11:g.94579913G>A	gnomAD
TGDS	O95455	p.Gln201His	rs755643462	missense variant	-	NC_000013.11:g.94579906T>G	ExAC,gnomAD
TGDS	O95455	p.Gln201Ter	rs1430841344	stop gained	-	NC_000013.11:g.94579908G>A	TOPMed
TGDS	O95455	p.Gln201His	rs755643462	missense variant	-	NC_000013.11:g.94579906T>A	ExAC,gnomAD
TGDS	O95455	p.Glu204Lys	COSM432617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94579899C>T	NCI-TCGA Cosmic
TGDS	O95455	p.Val206Ile	rs774775351	missense variant	-	NC_000013.11:g.94578773C>T	ExAC,gnomAD
TGDS	O95455	p.Phe210Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94578761A>C	NCI-TCGA
TGDS	O95455	p.Ile211Met	rs1156262519	missense variant	-	NC_000013.11:g.94578756T>C	TOPMed
TGDS	O95455	p.Ile211Lys	rs1471988957	missense variant	-	NC_000013.11:g.94578757A>T	TOPMed
TGDS	O95455	p.Leu213Ser	rs769212951	missense variant	-	NC_000013.11:g.94578751A>G	ExAC,gnomAD
TGDS	O95455	p.Leu213Phe	rs749721449	missense variant	-	NC_000013.11:g.94578750C>A	ExAC,gnomAD
TGDS	O95455	p.Gln215Ter	rs1405265903	stop gained	-	NC_000013.11:g.94578746G>A	gnomAD
TGDS	O95455	p.Asn217Asp	rs1416599590	missense variant	-	NC_000013.11:g.94578740T>C	TOPMed
TGDS	O95455	p.Arg218Trp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94578737T>A	NCI-TCGA
TGDS	O95455	p.Arg218Met	COSM3417740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94578736C>A	NCI-TCGA Cosmic
TGDS	O95455	p.Lys219Arg	rs1419150789	missense variant	-	NC_000013.11:g.94578733T>C	gnomAD
TGDS	O95455	p.Cys220Arg	rs1167558041	missense variant	-	NC_000013.11:g.94578731A>G	gnomAD
TGDS	O95455	p.Cys221Ser	rs777210874	missense variant	-	NC_000013.11:g.94578168C>G	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ile222Asn	rs758048181	missense variant	-	NC_000013.11:g.94578165A>T	ExAC,gnomAD
TGDS	O95455	p.His223Arg	rs1233005543	missense variant	-	NC_000013.11:g.94578162T>C	gnomAD
TGDS	O95455	p.Ser225Pro	COSM5068857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94578157A>G	NCI-TCGA Cosmic
TGDS	O95455	p.Gln228Pro	rs753854206	missense variant	-	NC_000013.11:g.94578147T>G	ExAC,gnomAD
TGDS	O95455	p.Gln228Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.94578148G>A	NCI-TCGA
TGDS	O95455	p.Thr229Pro	rs766413844	missense variant	-	NC_000013.11:g.94578145T>G	ExAC,gnomAD
TGDS	O95455	p.Thr229Arg	rs1183007382	missense variant	-	NC_000013.11:g.94578144G>C	TOPMed
TGDS	O95455	p.Arg230Gly	rs756319678	missense variant	-	NC_000013.11:g.94578142T>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Asn231Ser	rs1357654176	missense variant	-	NC_000013.11:g.94578138T>C	gnomAD
TGDS	O95455	p.Tyr234His	rs544436734	missense variant	Catel-Manzke syndrome (CATMANS)	NC_000013.11:g.94578130A>G	UniProt,dbSNP
TGDS	O95455	p.Tyr234His	VAR_072685	missense variant	Catel-Manzke syndrome (CATMANS)	NC_000013.11:g.94578130A>G	UniProt
TGDS	O95455	p.Tyr234His	rs544436734	missense variant	-	NC_000013.11:g.94578130A>G	1000Genomes,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Tyr234Phe	rs762149592	missense variant	-	NC_000013.11:g.94578129T>A	ExAC,gnomAD
TGDS	O95455	p.Tyr234Cys	rs762149592	missense variant	-	NC_000013.11:g.94578129T>C	ExAC,gnomAD
TGDS	O95455	p.Tyr234His	RCV000149818	missense variant	Catel Manzke syndrome (CATMANS)	NC_000013.11:g.94578130A>G	ClinVar
TGDS	O95455	p.Thr236Ala	rs1396930499	missense variant	-	NC_000013.11:g.94578124T>C	gnomAD
TGDS	O95455	p.Asp237His	rs374757364	missense variant	-	NC_000013.11:g.94578121C>G	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Asp237Asn	rs374757364	missense variant	-	NC_000013.11:g.94578121C>T	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ala241Thr	rs927214872	missense variant	-	NC_000013.11:g.94578109C>T	TOPMed,gnomAD
TGDS	O95455	p.Phe242Leu	rs1177575428	missense variant	-	NC_000013.11:g.94578106A>G	gnomAD
TGDS	O95455	p.Leu243Pro	rs763227888	missense variant	-	NC_000013.11:g.94578102A>G	ExAC,gnomAD
TGDS	O95455	p.Val245Ile	rs776126290	missense variant	-	NC_000013.11:g.94578097C>T	ExAC,gnomAD
TGDS	O95455	p.Lys247Arg	rs1171446283	missense variant	-	NC_000013.11:g.94578090T>C	TOPMed
TGDS	O95455	p.Gly249Arg	COSM5070111	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94578085C>T	NCI-TCGA Cosmic
TGDS	O95455	p.Pro251Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94578079G>A	NCI-TCGA
TGDS	O95455	p.Ile254Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94578068A>C	NCI-TCGA
TGDS	O95455	p.Tyr255Cys	rs1348044163	missense variant	-	NC_000013.11:g.94578066T>C	gnomAD
TGDS	O95455	p.Asn256Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94578062G>T	NCI-TCGA
TGDS	O95455	p.Ile257Val	rs1372035000	missense variant	-	NC_000013.11:g.94578061T>C	TOPMed
TGDS	O95455	p.Gly258Arg	rs1335693810	missense variant	-	NC_000013.11:g.94578058C>T	gnomAD
TGDS	O95455	p.Phe261Tyr	rs772737712	missense variant	-	NC_000013.11:g.94578048A>T	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Met263Val	rs771518626	missense variant	-	NC_000013.11:g.94578043T>C	ExAC,gnomAD
TGDS	O95455	p.Ser264Ter	rs747879381	stop gained	-	NC_000013.11:g.94578039G>C	ExAC,gnomAD
TGDS	O95455	p.Gln267Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.94578031G>A	NCI-TCGA
TGDS	O95455	p.Leu268Val	rs778393818	missense variant	-	NC_000013.11:g.94578028G>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Ala269Val	rs971659298	missense variant	-	NC_000013.11:g.94578024G>A	TOPMed
TGDS	O95455	p.Glu271Ala	rs768562809	missense variant	-	NC_000013.11:g.94578018T>G	ExAC,gnomAD
TGDS	O95455	p.Glu271Asp	rs1453061175	missense variant	-	NC_000013.11:g.94578017T>G	gnomAD
TGDS	O95455	p.Glu271Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.94578019C>A	NCI-TCGA
TGDS	O95455	p.Leu272Gln	rs575808762	missense variant	-	NC_000013.11:g.94578015A>T	1000Genomes,ExAC,gnomAD
TGDS	O95455	p.Leu272Pro	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94578015A>G	NCI-TCGA
TGDS	O95455	p.Ile273Thr	rs779935345	missense variant	-	NC_000013.11:g.94578012A>G	ExAC
TGDS	O95455	p.Ile273Met	rs756123613	missense variant	-	NC_000013.11:g.94578011T>C	ExAC,gnomAD
TGDS	O95455	p.Gln274Glu	rs140589210	missense variant	-	NC_000013.11:g.94578010G>C	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Gln274Lys	rs140589210	missense variant	-	NC_000013.11:g.94578010G>T	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Gln274Ter	rs140589210	stop gained	-	NC_000013.11:g.94578010G>A	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Glu278Asp	rs546237136	missense variant	-	NC_000013.11:g.94577421C>G	1000Genomes,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Thr279Pro	rs529621348	missense variant	-	NC_000013.11:g.94577420T>G	1000Genomes,ExAC,gnomAD
TGDS	O95455	p.Asn280Ser	rs757419656	missense variant	-	NC_000013.11:g.94577416T>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Asn280Lys	rs1176849709	missense variant	-	NC_000013.11:g.94577415A>T	gnomAD
TGDS	O95455	p.Glu284Ala	rs560513141	missense variant	-	NC_000013.11:g.94577404T>G	1000Genomes,ExAC,gnomAD
TGDS	O95455	p.Met285Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94577400C>A	NCI-TCGA
TGDS	O95455	p.Met285Val	COSM948923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94577402T>C	NCI-TCGA Cosmic
TGDS	O95455	p.Glu286Lys	rs1231705469	missense variant	-	NC_000013.11:g.94577399C>T	TOPMed
TGDS	O95455	p.Trp288Cys	rs1337402058	missense variant	-	NC_000013.11:g.94577391C>A	gnomAD
TGDS	O95455	p.Trp288LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.94577392_94577393insA	NCI-TCGA
TGDS	O95455	p.Val289Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.94577390C>T	NCI-TCGA
TGDS	O95455	p.Val289Ala	COSM4048783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.94577389A>G	NCI-TCGA Cosmic
TGDS	O95455	p.Tyr291Phe	rs544524588	missense variant	-	NC_000013.11:g.94577383T>A	1000Genomes
TGDS	O95455	p.Val292Phe	rs1276588170	missense variant	-	NC_000013.11:g.94577381C>A	gnomAD
TGDS	O95455	p.Asp294His	rs758582500	missense variant	-	NC_000013.11:g.94577375C>G	ExAC,gnomAD
TGDS	O95455	p.Asn298Asp	rs724160005	missense variant	-	NC_000013.11:g.94576404T>C	-
TGDS	O95455	p.Asn298Ser	rs769779710	missense variant	-	NC_000013.11:g.94576403T>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Asn298Asp	RCV000149822	missense variant	Catel Manzke syndrome (CATMANS)	NC_000013.11:g.94576404T>C	ClinVar
TGDS	O95455	p.Asp299Asn	rs376831797	missense variant	-	NC_000013.11:g.94576401C>T	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Asp299Val	rs1396784266	missense variant	-	NC_000013.11:g.94576400T>A	gnomAD
TGDS	O95455	p.Asp299Tyr	rs376831797	missense variant	-	NC_000013.11:g.94576401C>A	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Met300Ile	rs1393932328	missense variant	-	NC_000013.11:g.94576396C>A	gnomAD
TGDS	O95455	p.Met300Val	rs1169271255	missense variant	-	NC_000013.11:g.94576398T>C	gnomAD
TGDS	O95455	p.Met300Thr	rs1432373497	missense variant	-	NC_000013.11:g.94576397A>G	gnomAD
TGDS	O95455	p.Met304Thr	rs1181560124	missense variant	-	NC_000013.11:g.94576385A>G	gnomAD
TGDS	O95455	p.Met304Ile	rs1438743391	missense variant	-	NC_000013.11:g.94576384C>A	TOPMed,gnomAD
TGDS	O95455	p.Met304Val	rs367576453	missense variant	-	NC_000013.11:g.94576386T>C	ESP,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Met304Ile	rs1438743391	missense variant	-	NC_000013.11:g.94576384C>T	TOPMed,gnomAD
TGDS	O95455	p.Lys305Gln	rs777740428	missense variant	-	NC_000013.11:g.94576383T>G	ExAC,TOPMed,gnomAD
TGDS	O95455	p.His310Arg	rs748405605	missense variant	-	NC_000013.11:g.94576367T>C	ExAC,TOPMed,gnomAD
TGDS	O95455	p.His310Tyr	rs1281154644	missense variant	-	NC_000013.11:g.94576368G>A	gnomAD
TGDS	O95455	p.Leu312Phe	rs138907959	missense variant	-	NC_000013.11:g.94576360T>A	ESP,TOPMed
TGDS	O95455	p.Gly313Arg	rs1369644811	missense variant	-	NC_000013.11:g.94576359C>T	gnomAD
TGDS	O95455	p.Gly313Val	rs1277639459	missense variant	-	NC_000013.11:g.94576358C>A	TOPMed,gnomAD
TGDS	O95455	p.Trp314Arg	rs144948056	missense variant	-	NC_000013.11:g.94576356A>G	ESP,TOPMed,gnomAD
TGDS	O95455	p.Trp314Arg	rs144948056	missense variant	-	NC_000013.11:g.94576356A>T	ESP,TOPMed,gnomAD
TGDS	O95455	p.Arg315Ter	rs779098313	stop gained	-	NC_000013.11:g.94576353T>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Pro316Arg	rs755393384	missense variant	-	NC_000013.11:g.94576349G>C	ExAC,gnomAD
TGDS	O95455	p.Pro316His	rs755393384	missense variant	-	NC_000013.11:g.94576349G>T	ExAC,gnomAD
TGDS	O95455	p.Lys317Asn	rs1284224643	missense variant	-	NC_000013.11:g.94576345T>G	gnomAD
TGDS	O95455	p.Pro319Arg	rs1235127517	missense variant	-	NC_000013.11:g.94576340G>C	TOPMed
TGDS	O95455	p.Lys321Glu	rs1374436495	missense variant	-	NC_000013.11:g.94576335T>C	gnomAD
TGDS	O95455	p.Glu322Lys	rs1173723601	missense variant	-	NC_000013.11:g.94576332C>T	gnomAD
TGDS	O95455	p.Gly323Glu	rs1435981482	missense variant	-	NC_000013.11:g.94576328C>T	gnomAD
TGDS	O95455	p.Ile324Met	rs1158497257	missense variant	-	NC_000013.11:g.94576324T>C	gnomAD
TGDS	O95455	p.Ile324Leu	rs1406502881	missense variant	-	NC_000013.11:g.94576326T>G	gnomAD
TGDS	O95455	p.Lys325Asn	rs756608932	missense variant	-	NC_000013.11:g.94576321C>A	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Trp330Ter	rs752263870	stop gained	-	NC_000013.11:g.94574845C>T	ExAC,gnomAD
TGDS	O95455	p.His336Tyr	rs764804060	missense variant	-	NC_000013.11:g.94574829G>A	ExAC,gnomAD
TGDS	O95455	p.Asn337Ser	rs1359364582	missense variant	-	NC_000013.11:g.94574825T>C	gnomAD
TGDS	O95455	p.Asn337Thr	rs1359364582	missense variant	-	NC_000013.11:g.94574825T>G	gnomAD
TGDS	O95455	p.Lys339Asn	rs759286853	missense variant	-	NC_000013.11:g.94574818C>G	ExAC,gnomAD
TGDS	O95455	p.Asn340Asp	rs1335818690	missense variant	-	NC_000013.11:g.94574817T>C	TOPMed,gnomAD
TGDS	O95455	p.Glu342Gly	rs1430735190	missense variant	-	NC_000013.11:g.94574810T>C	TOPMed,gnomAD
TGDS	O95455	p.Lys343Ter	rs753509890	stop gained	-	NC_000013.11:g.94574808T>A	ExAC,gnomAD
TGDS	O95455	p.Lys343Asn	rs1442713093	missense variant	-	NC_000013.11:g.94574806C>A	gnomAD
TGDS	O95455	p.Ala344Thr	rs1461310508	missense variant	-	NC_000013.11:g.94574805C>T	TOPMed,gnomAD
TGDS	O95455	p.Phe348Tyr	rs766124794	missense variant	-	NC_000013.11:g.94574792A>T	ExAC,gnomAD
TGDS	O95455	p.Pro349Leu	rs533417105	missense variant	-	NC_000013.11:g.94574789G>A	1000Genomes,ExAC,TOPMed,gnomAD
TGDS	O95455	p.Val350Ile	rs772009375	missense variant	-	NC_000013.11:g.94574787C>T	ExAC,TOPMed,gnomAD
TGDS	O95455	p.Val350Leu	rs772009375	missense variant	-	NC_000013.11:g.94574787C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val2Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81836988G>A	NCI-TCGA
ADGRL2	O95490	p.Val2Leu	rs766277937	missense variant	-	NC_000001.11:g.81836988G>T	ExAC,gnomAD
ADGRL2	O95490	p.Ser3Phe	rs148990237	missense variant	-	NC_000001.11:g.81836992C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met8Lys	rs141876075	missense variant	-	NC_000001.11:g.81837007T>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg9Gln	rs138982442	missense variant	-	NC_000001.11:g.81837010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg9Gly	rs909612501	missense variant	-	NC_000001.11:g.81837009C>G	gnomAD
ADGRL2	O95490	p.Leu11Val	rs774269659	missense variant	-	NC_000001.11:g.81837015C>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu11Pro	COSM5126294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81837016T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Trp12Cys	rs777411293	missense variant	-	NC_000001.11:g.81837020G>T	ExAC
ADGRL2	O95490	p.Ile14Leu	rs746491038	missense variant	-	NC_000001.11:g.81837024A>C	ExAC,gnomAD
ADGRL2	O95490	p.Ile14Val	rs746491038	missense variant	-	NC_000001.11:g.81837024A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile15Thr	rs777246913	missense variant	-	NC_000001.11:g.81837028T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile15Val	rs771616121	missense variant	-	NC_000001.11:g.81837027A>G	ExAC,gnomAD
ADGRL2	O95490	p.Val16Ala	rs1338055049	missense variant	-	NC_000001.11:g.81837031T>C	gnomAD
ADGRL2	O95490	p.Val16Ile	rs376600105	missense variant	-	NC_000001.11:g.81837030G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val16Leu	rs376600105	missense variant	-	NC_000001.11:g.81837030G>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe19Val	COSM4010088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81837039T>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Pro21Thr	rs922086778	missense variant	-	NC_000001.11:g.81837045C>A	-
ADGRL2	O95490	p.Glu24Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81837054G>A	NCI-TCGA
ADGRL2	O95490	p.Gly25Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81837057G>T	NCI-TCGA
ADGRL2	O95490	p.Gly25Val	rs768961675	missense variant	-	NC_000001.11:g.81907017G>T	ExAC,gnomAD
ADGRL2	O95490	p.Gly25Asp	rs768961675	missense variant	-	NC_000001.11:g.81907017G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser27Asn	rs1401809421	missense variant	-	NC_000001.11:g.81907023G>A	gnomAD
ADGRL2	O95490	p.Val36Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81907049G>T	NCI-TCGA
ADGRL2	O95490	p.Val36Ala	rs774392019	missense variant	-	NC_000001.11:g.81907050T>C	ExAC,gnomAD
ADGRL2	O95490	p.Arg37Lys	rs1205992620	missense variant	-	NC_000001.11:g.81907053G>A	TOPMed
ADGRL2	O95490	p.Arg38Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81907055C>T	NCI-TCGA
ADGRL2	O95490	p.Arg38Gln	rs1195606200	missense variant	-	NC_000001.11:g.81907056G>A	gnomAD
ADGRL2	O95490	p.Ser41Tyr	COSM3492659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907065C>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser41Phe	COSM3492663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907065C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asp48Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81907085G>A	NCI-TCGA
ADGRL2	O95490	p.Leu49Val	rs748207651	missense variant	-	NC_000001.11:g.81907088C>G	ExAC,gnomAD
ADGRL2	O95490	p.Arg50Ter	COSM212259	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81907091C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Cys51Trp	rs765076851	missense variant	-	NC_000001.11:g.81907096C>G	ExAC,gnomAD
ADGRL2	O95490	p.Pro52Leu	COSM5102079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907098C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser54Arg	rs893055734	missense variant	-	NC_000001.11:g.81907103A>C	TOPMed
ADGRL2	O95490	p.Ser54Asn	rs762626450	missense variant	-	NC_000001.11:g.81907104G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile57Val	rs763838900	missense variant	-	NC_000001.11:g.81907112A>G	ExAC,gnomAD
ADGRL2	O95490	p.Met58Val	rs1365939876	missense variant	-	NC_000001.11:g.81907115A>G	gnomAD
ADGRL2	O95490	p.Ile59Val	rs142992362	missense variant	-	NC_000001.11:g.81907118A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser61Arg	rs769350694	missense variant	-	NC_000001.11:g.81907126C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala62Thr	rs780914901	missense variant	-	NC_000001.11:g.81907127G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asn63Lys	rs536408064	missense variant	-	NC_000001.11:g.81907132C>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Arg66Gln	COSM2243054	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907140G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg66Gly	COSM1320883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907139C>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr67Met	rs1325228176	missense variant	-	NC_000001.11:g.81907143C>T	gnomAD
ADGRL2	O95490	p.Asp69Glu	rs756734698	missense variant	-	NC_000001.11:g.81907150C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp69Glu	rs756734698	missense variant	-	NC_000001.11:g.81907150C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp69Asn	COSM4832761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907148G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ala74Thr	rs200009196	missense variant	-	NC_000001.11:g.81907163G>A	1000Genomes,gnomAD
ADGRL2	O95490	p.Pro76Leu	rs1362028404	missense variant	-	NC_000001.11:g.81907170C>T	gnomAD
ADGRL2	O95490	p.Gln78His	rs780393998	missense variant	-	NC_000001.11:g.81907177G>C	ExAC,gnomAD
ADGRL2	O95490	p.Gln78His	rs780393998	missense variant	-	NC_000001.11:g.81907177G>T	ExAC,gnomAD
ADGRL2	O95490	p.Gln78Ter	COSM3492667	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81907175C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Glu80Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81907181G>A	NCI-TCGA
ADGRL2	O95490	p.Glu80Asp	rs749691144	missense variant	-	NC_000001.11:g.81907183G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn81Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81907184A>G	NCI-TCGA
ADGRL2	O95490	p.Thr82Ala	rs779206551	missense variant	-	NC_000001.11:g.81907187A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp83Gly	rs1263171781	missense variant	-	NC_000001.11:g.81907191A>G	gnomAD
ADGRL2	O95490	p.Tyr85Cys	rs1426710649	missense variant	-	NC_000001.11:g.81907197A>G	gnomAD
ADGRL2	O95490	p.Leu86Phe	rs910925879	missense variant	-	NC_000001.11:g.81907199C>T	gnomAD
ADGRL2	O95490	p.Asp88His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81907205G>C	NCI-TCGA
ADGRL2	O95490	p.Asp88Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81907206A>G	NCI-TCGA
ADGRL2	O95490	p.Asp88ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81907206A>-	NCI-TCGA
ADGRL2	O95490	p.Asp88ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81907203_81907204insT	NCI-TCGA
ADGRL2	O95490	p.Asp88Val	rs1365207880	missense variant	-	NC_000001.11:g.81907206A>T	gnomAD
ADGRL2	O95490	p.Asp88Glu	rs1454462656	missense variant	-	NC_000001.11:g.81907207T>G	gnomAD
ADGRL2	O95490	p.Asp88Asn	rs943585829	missense variant	-	NC_000001.11:g.81907205G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Ala89Val	rs773340359	missense variant	-	NC_000001.11:g.81907209C>T	ExAC
ADGRL2	O95490	p.Ile92Ser	COSM5744514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907218T>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr94Ser	rs1382856065	missense variant	-	NC_000001.11:g.81907224C>G	gnomAD
ADGRL2	O95490	p.Gln95Arg	rs1382218976	missense variant	-	NC_000001.11:g.81907227A>G	gnomAD
ADGRL2	O95490	p.Asn98Ser	rs1243529387	missense variant	-	NC_000001.11:g.81936733A>G	TOPMed
ADGRL2	O95490	p.Asn99Ser	rs776305485	missense variant	-	NC_000001.11:g.81936736A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg100Ter	rs775512975	stop gained	-	NC_000001.11:g.81936738C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg100Gln	COSM3866136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81936739G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ile104Val	rs757483540	missense variant	-	NC_000001.11:g.81936750A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Val105Ile	rs749114277	missense variant	-	NC_000001.11:g.81936753G>A	ExAC,gnomAD
ADGRL2	O95490	p.Val105Ala	COSM3419502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81936754T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly108Val	rs767308892	missense variant	-	NC_000001.11:g.81936763G>T	ExAC,gnomAD
ADGRL2	O95490	p.Asp110Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81936768G>T	NCI-TCGA
ADGRL2	O95490	p.Asp110Gly	rs772947622	missense variant	-	NC_000001.11:g.81936769A>G	ExAC,gnomAD
ADGRL2	O95490	p.Pro113Ser	COSM1687958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81936777C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Pro117Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81936789C>T	NCI-TCGA
ADGRL2	O95490	p.Pro117Leu	COSM3492671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81936790C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr119Ile	rs1468753578	missense variant	-	NC_000001.11:g.81936796C>T	gnomAD
ADGRL2	O95490	p.Tyr120Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81936799A>G	NCI-TCGA
ADGRL2	O95490	p.Gln126Ter	rs1171664554	stop gained	-	NC_000001.11:g.81936816C>T	TOPMed
ADGRL2	O95490	p.Tyr127Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81936820A>G	NCI-TCGA
ADGRL2	O95490	p.Glu128Ter	COSM1581157	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81936822G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ile133Val	rs139190382	missense variant	-	NC_000001.11:g.81936837A>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val135Ala	COSM681966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81942975T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Cys136Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81942978G>A	NCI-TCGA
ADGRL2	O95490	p.Gly138Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81942984G>T	NCI-TCGA
ADGRL2	O95490	p.Gly138Glu	rs1287865261	missense variant	-	NC_000001.11:g.81942984G>A	gnomAD
ADGRL2	O95490	p.Thr139Ile	rs144007597	missense variant	-	NC_000001.11:g.81942987C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp145Asn	rs780721378	missense variant	-	NC_000001.11:g.81943004G>A	ExAC
ADGRL2	O95490	p.Asp145Val	rs1302713884	missense variant	-	NC_000001.11:g.81943005A>T	TOPMed
ADGRL2	O95490	p.Pro147Thr	rs745459122	missense variant	-	NC_000001.11:g.81943010C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Cys148Arg	rs1344863320	missense variant	-	NC_000001.11:g.81943013T>C	TOPMed,gnomAD
ADGRL2	O95490	p.Cys148Tyr	rs1327074872	missense variant	-	NC_000001.11:g.81943014G>A	TOPMed
ADGRL2	O95490	p.Ile149Val	rs775041759	missense variant	-	NC_000001.11:g.81943016A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Tyr150Cys	COSM1344471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943020A>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Glu151Ala	rs182862761	missense variant	-	NC_000001.11:g.81943023A>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala152Gly	rs1250511692	missense variant	-	NC_000001.11:g.81943026C>G	gnomAD
ADGRL2	O95490	p.Ala152Thr	rs769181656	missense variant	-	NC_000001.11:g.81943025G>A	ExAC,gnomAD
ADGRL2	O95490	p.Glu153Lys	COSM3492679	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943028G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gln154His	rs1200889861	missense variant	-	NC_000001.11:g.81943033A>C	gnomAD
ADGRL2	O95490	p.Ala156Pro	rs1159475329	missense variant	-	NC_000001.11:g.81943037G>C	gnomAD
ADGRL2	O95490	p.Ala156Val	rs200377136	missense variant	-	NC_000001.11:g.81943038C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly157Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943041G>A	NCI-TCGA
ADGRL2	O95490	p.Gly157Ser	rs1168327055	missense variant	-	NC_000001.11:g.81943040G>A	gnomAD
ADGRL2	O95490	p.Ala158Thr	rs1398337913	missense variant	-	NC_000001.11:g.81943043G>A	gnomAD
ADGRL2	O95490	p.Ala158Asp	COSM6127514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943044C>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Cys160Trp	rs761033313	missense variant	-	NC_000001.11:g.81943051C>G	ExAC,gnomAD
ADGRL2	O95490	p.Cys160Phe	rs187930349	missense variant	-	NC_000001.11:g.81943050G>T	1000Genomes,ExAC
ADGRL2	O95490	p.Lys161Glu	rs1307653586	missense variant	-	NC_000001.11:g.81943052A>G	gnomAD
ADGRL2	O95490	p.Gln165Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943064C>G	NCI-TCGA
ADGRL2	O95490	p.Gln165His	COSM6127510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943066G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ala166Gly	rs1299230639	missense variant	-	NC_000001.11:g.81943068C>G	gnomAD
ADGRL2	O95490	p.Ala166Ser	rs754013841	missense variant	-	NC_000001.11:g.81943067G>T	ExAC,gnomAD
ADGRL2	O95490	p.Ile170Thr	COSM6064216	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943080T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ile170Met	COSM912459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943081T>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Phe172Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943087C>G	NCI-TCGA
ADGRL2	O95490	p.Met173Val	rs777597517	missense variant	-	NC_000001.11:g.81943088A>G	ExAC,gnomAD
ADGRL2	O95490	p.Met173Ile	COSM6127506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943090G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Trp175Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943094T>A	NCI-TCGA
ADGRL2	O95490	p.Thr176Ser	rs1403318124	missense variant	-	NC_000001.11:g.81943097A>T	gnomAD
ADGRL2	O95490	p.Pro177Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943101C>T	NCI-TCGA
ADGRL2	O95490	p.Arg179Cys	rs752679138	missense variant	-	NC_000001.11:g.81943106C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg179Leu	rs1204800213	missense variant	-	NC_000001.11:g.81943107G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Arg179His	COSM1735475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943107G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr180Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943109A>G	NCI-TCGA
ADGRL2	O95490	p.Asp181Tyr	rs755815823	missense variant	-	NC_000001.11:g.81943112G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp181Asn	rs755815823	missense variant	-	NC_000001.11:g.81943112G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr182Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943115A>T	NCI-TCGA
ADGRL2	O95490	p.Leu183Val	rs748818234	missense variant	-	NC_000001.11:g.81943118T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile184Thr	rs1264621310	missense variant	-	NC_000001.11:g.81943122T>C	gnomAD
ADGRL2	O95490	p.Glu185Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943124G>C	NCI-TCGA
ADGRL2	O95490	p.Glu185Asp	rs768154117	missense variant	-	NC_000001.11:g.81943126A>C	ExAC,gnomAD
ADGRL2	O95490	p.Ala187Ser	rs774724301	missense variant	-	NC_000001.11:g.81943130G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu189Val	rs1374649493	missense variant	-	NC_000001.11:g.81943136T>G	gnomAD
ADGRL2	O95490	p.Glu190Lys	rs748752495	missense variant	-	NC_000001.11:g.81943139G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asp191His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943142G>C	NCI-TCGA
ADGRL2	O95490	p.Asp191Glu	rs1167668750	missense variant	-	NC_000001.11:g.81943144T>G	gnomAD
ADGRL2	O95490	p.Phe192Leu	rs773672775	missense variant	-	NC_000001.11:g.81943147C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe192Cys	rs201538464	missense variant	-	NC_000001.11:g.81943146T>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asn194Ser	rs1026922526	missense variant	-	NC_000001.11:g.81943152A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ser195Cys	rs761088337	missense variant	-	NC_000001.11:g.81943154A>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg196His	rs577293051	missense variant	-	NC_000001.11:g.81943158G>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Arg196Cys	rs1041419067	missense variant	-	NC_000001.11:g.81943157C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Tyr201His	rs759705946	missense variant	-	NC_000001.11:g.81943172T>C	ExAC,gnomAD
ADGRL2	O95490	p.Leu203Phe	rs1263229653	missense variant	-	NC_000001.11:g.81943178C>T	gnomAD
ADGRL2	O95490	p.Arg206Ter	rs1487870704	stop gained	-	NC_000001.11:g.81943187C>T	gnomAD
ADGRL2	O95490	p.Arg206Gln	COSM1687962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943188G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly211Glu	COSM5847363	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943203G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Val213Ala	rs1463456233	missense variant	-	NC_000001.11:g.81943209T>C	gnomAD
ADGRL2	O95490	p.Tyr215Cys	rs1385609600	missense variant	-	NC_000001.11:g.81943215A>G	gnomAD
ADGRL2	O95490	p.Asp216Asn	rs865853749	missense variant	-	NC_000001.11:g.81943217G>A	gnomAD
ADGRL2	O95490	p.Gly217Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943220G>A	NCI-TCGA
ADGRL2	O95490	p.Gly217Asp	rs1051598019	missense variant	-	NC_000001.11:g.81943221G>A	TOPMed
ADGRL2	O95490	p.Ala218Thr	rs767336672	missense variant	-	NC_000001.11:g.81943223G>A	ExAC,gnomAD
ADGRL2	O95490	p.Val219Ile	rs1454383700	missense variant	-	NC_000001.11:g.81943226G>A	gnomAD
ADGRL2	O95490	p.Phe220Leu	rs1360355130	missense variant	-	NC_000001.11:g.81943231C>A	TOPMed
ADGRL2	O95490	p.Phe220Ser	rs1387132521	missense variant	-	NC_000001.11:g.81943230T>C	gnomAD
ADGRL2	O95490	p.Phe220Ile	rs750247592	missense variant	-	NC_000001.11:g.81943229T>A	ExAC,gnomAD
ADGRL2	O95490	p.Phe221Tyr	rs755853238	missense variant	-	NC_000001.11:g.81943233T>A	ExAC,gnomAD
ADGRL2	O95490	p.Thr226Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943247A>G	NCI-TCGA
ADGRL2	O95490	p.Thr226Met	rs1229743701	missense variant	-	NC_000001.11:g.81943248C>T	gnomAD
ADGRL2	O95490	p.Arg227Lys	COSM3492695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943251G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Phe232Leu	rs372512578	missense variant	-	NC_000001.11:g.81943267T>A	ESP
ADGRL2	O95490	p.Phe232Tyr	rs146694157	missense variant	-	NC_000001.11:g.81943266T>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg235Ser	rs1436024502	missense variant	-	NC_000001.11:g.81943276G>T	TOPMed
ADGRL2	O95490	p.Arg237Ser	rs144043060	missense variant	-	NC_000001.11:g.81943282A>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu242AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81943296_81943297insCTATTTT	NCI-TCGA
ADGRL2	O95490	p.Glu242Lys	rs1484112964	missense variant	-	NC_000001.11:g.81943295G>A	gnomAD
ADGRL2	O95490	p.Ala243Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943299C>T	NCI-TCGA
ADGRL2	O95490	p.Ile245AlaPhe	NCI-TCGA novel	insertion	-	NC_000001.11:g.81943306_81943307insGCTTTC	NCI-TCGA
ADGRL2	O95490	p.Tyr247His	rs1285557510	missense variant	-	NC_000001.11:g.81943310T>C	TOPMed
ADGRL2	O95490	p.Ala248Thr	COSM5742730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943313G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Tyr250His	rs561209754	missense variant	-	NC_000001.11:g.81943319T>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Tyr250Cys	COSM1126939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943320A>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.His251Leu	COSM6127502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943323A>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr253Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943328A>G	NCI-TCGA
ADGRL2	O95490	p.Tyr256Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943338A>G	NCI-TCGA
ADGRL2	O95490	p.Arg257Ser	rs767511606	missense variant	-	NC_000001.11:g.81943342A>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg257Lys	rs762913159	missense variant	-	NC_000001.11:g.81943341G>A	ExAC
ADGRL2	O95490	p.Arg257Gly	rs775689046	missense variant	-	NC_000001.11:g.81943340A>G	ExAC,gnomAD
ADGRL2	O95490	p.Trp258Arg	rs1446301500	missense variant	-	NC_000001.11:g.81943343T>C	gnomAD
ADGRL2	O95490	p.Lys261Gln	rs750301010	missense variant	-	NC_000001.11:g.81943352A>C	ExAC,TOPMed
ADGRL2	O95490	p.Thr262Ser	rs1302585481	missense variant	-	NC_000001.11:g.81943355A>T	gnomAD
ADGRL2	O95490	p.Asp263Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943358G>A	NCI-TCGA
ADGRL2	O95490	p.Ile264Val	rs755906651	missense variant	-	NC_000001.11:g.81943361A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile264Phe	COSM681962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943361A>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asp265Asn	COSM3805940	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943364G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asp265His	COSM6064208	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943364G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu266Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943368T>C	NCI-TCGA
ADGRL2	O95490	p.Val268Ala	rs754705217	missense variant	-	NC_000001.11:g.81943374T>C	ExAC,gnomAD
ADGRL2	O95490	p.Glu270Ter	COSM197140	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81943379G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asn271ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81943382_81943383insCAATCAGGAG	NCI-TCGA
ADGRL2	O95490	p.Gly272Arg	rs778395762	missense variant	-	NC_000001.11:g.81943385G>C	ExAC,gnomAD
ADGRL2	O95490	p.Gly272Asp	COSM4896972	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943386G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Val275Ile	rs1313830119	missense variant	-	NC_000001.11:g.81943394G>A	gnomAD
ADGRL2	O95490	p.Ala278Thr	rs778439430	missense variant	-	NC_000001.11:g.81943403G>A	ExAC,gnomAD
ADGRL2	O95490	p.Glu280Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943409G>A	NCI-TCGA
ADGRL2	O95490	p.Gln281Arg	rs1184601410	missense variant	-	NC_000001.11:g.81943413A>G	gnomAD
ADGRL2	O95490	p.Asn282Ser	rs1208884524	missense variant	-	NC_000001.11:g.81943416A>G	TOPMed
ADGRL2	O95490	p.Asn283Ser	rs1249802379	missense variant	-	NC_000001.11:g.81943419A>G	gnomAD
ADGRL2	O95490	p.Met285Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943424A>C	NCI-TCGA
ADGRL2	O95490	p.Met285Ile	rs1256626662	missense variant	-	NC_000001.11:g.81943426G>A	TOPMed
ADGRL2	O95490	p.Ile288Thr	rs771565011	missense variant	-	NC_000001.11:g.81943434T>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro293Thr	rs781730195	missense variant	-	NC_000001.11:g.81943448C>A	ExAC,gnomAD
ADGRL2	O95490	p.Tyr294Asn	rs1175853860	missense variant	-	NC_000001.11:g.81943451T>A	gnomAD
ADGRL2	O95490	p.Thr295Ala	rs1355464174	missense variant	-	NC_000001.11:g.81943454A>G	gnomAD
ADGRL2	O95490	p.Leu296Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943457C>G	NCI-TCGA
ADGRL2	O95490	p.Arg297Gln	rs746200328	missense variant	-	NC_000001.11:g.81943461G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg297Leu	rs746200328	missense variant	-	NC_000001.11:g.81943461G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg297Ter	COSM912466	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81943460C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr301Met	rs770097166	missense variant	-	NC_000001.11:g.81943473C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr301Ser	rs1489147681	missense variant	-	NC_000001.11:g.81943472A>T	gnomAD
ADGRL2	O95490	p.Trp302TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81943474_81943475insTATT	NCI-TCGA
ADGRL2	O95490	p.Trp302Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81943473_81943474insATAA	NCI-TCGA
ADGRL2	O95490	p.Trp302Leu	rs1408708856	missense variant	-	NC_000001.11:g.81943476G>T	gnomAD
ADGRL2	O95490	p.Glu303Lys	rs1355443553	missense variant	-	NC_000001.11:g.81943478G>A	TOPMed
ADGRL2	O95490	p.Asp307Asn	rs140256557	missense variant	-	NC_000001.11:g.81943490G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg309His	COSM2243106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943497G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg309Cys	COSM5754509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943496C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ala310Val	rs1307859781	missense variant	-	NC_000001.11:g.81943500C>T	gnomAD
ADGRL2	O95490	p.Ala311Thr	rs1003335830	missense variant	-	NC_000001.11:g.81943502G>A	gnomAD
ADGRL2	O95490	p.Ala311Ser	rs1003335830	missense variant	-	NC_000001.11:g.81943502G>T	gnomAD
ADGRL2	O95490	p.Ser312Leu	COSM681958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943506C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Met316Val	rs959532564	missense variant	-	NC_000001.11:g.81943517A>G	TOPMed
ADGRL2	O95490	p.Ile317Val	COSM3805944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943520A>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly319Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943526G>A	NCI-TCGA
ADGRL2	O95490	p.Tyr322His	rs1477358823	missense variant	-	NC_000001.11:g.81943535T>C	gnomAD
ADGRL2	O95490	p.Val324Ile	rs1191117419	missense variant	-	NC_000001.11:g.81943541G>A	gnomAD
ADGRL2	O95490	p.Ser326Ala	rs989656727	missense variant	-	NC_000001.11:g.81943547T>G	TOPMed
ADGRL2	O95490	p.Ser326Ter	COSM6064199	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81943548C>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Tyr328Phe	rs759210116	missense variant	-	NC_000001.11:g.81943554A>T	ExAC,gnomAD
ADGRL2	O95490	p.Tyr328Cys	COSM5122664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943554A>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Glu332Lys	COSM3492711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943565G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser333Arg	rs1415637297	missense variant	-	NC_000001.11:g.81943568A>C	TOPMed
ADGRL2	O95490	p.Gly336Asp	rs1167044032	missense variant	-	NC_000001.11:g.81943578G>A	gnomAD
ADGRL2	O95490	p.Gly336Val	rs1167044032	missense variant	-	NC_000001.11:g.81943578G>T	gnomAD
ADGRL2	O95490	p.Lys337Thr	rs150461118	missense variant	-	NC_000001.11:g.81943581A>C	ESP
ADGRL2	O95490	p.Lys337Asn	COSM6127494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943582G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ile340Val	rs1428669133	missense variant	-	NC_000001.11:g.81943589A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Asp341Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943594T>G	NCI-TCGA
ADGRL2	O95490	p.Ile343Val	rs1351106100	missense variant	-	NC_000001.11:g.81943598A>G	gnomAD
ADGRL2	O95490	p.Ile343Met	rs552007701	missense variant	-	NC_000001.11:g.81943600T>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn345Ser	rs977096384	missense variant	-	NC_000001.11:g.81943605A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Thr346Ala	rs924306638	missense variant	-	NC_000001.11:g.81943607A>G	TOPMed
ADGRL2	O95490	p.Thr346Ile	COSM3492715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943608C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg347Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81943610C>T	NCI-TCGA
ADGRL2	O95490	p.Arg347Gln	rs1230366553	missense variant	-	NC_000001.11:g.81943611G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Asn349Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943618C>A	NCI-TCGA
ADGRL2	O95490	p.Arg350Ter	rs757891324	stop gained	-	NC_000001.11:g.81943619C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg350Leu	rs139129579	missense variant	-	NC_000001.11:g.81943620G>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg350Gly	rs757891324	missense variant	-	NC_000001.11:g.81943619C>G	ExAC,gnomAD
ADGRL2	O95490	p.Arg350Gln	rs139129579	missense variant	-	NC_000001.11:g.81943620G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly351Val	COSM6127489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943623G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Glu352Lys	rs1292198975	missense variant	-	NC_000001.11:g.81943625G>A	gnomAD
ADGRL2	O95490	p.Glu352Gly	rs769993520	missense variant	-	NC_000001.11:g.81943626A>G	ExAC,gnomAD
ADGRL2	O95490	p.Glu352Ter	COSM912470	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81943625G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asp355Asn	rs780325031	missense variant	-	NC_000001.11:g.81943634G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp355His	rs780325031	missense variant	-	NC_000001.11:g.81943634G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp355Glu	COSM6064195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943636T>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Pro357LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81943640_81943641insTGGAAGCCAGGCAAGATGACACTTTAATTATAAGAAAATAT	NCI-TCGA
ADGRL2	O95490	p.Gln361Arg	rs147030277	missense variant	-	NC_000001.11:g.81943653A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile365Val	rs1389921950	missense variant	-	NC_000001.11:g.81943664A>G	gnomAD
ADGRL2	O95490	p.Ala366Val	rs141768846	missense variant	-	NC_000001.11:g.81943668C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp369Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943676G>T	NCI-TCGA
ADGRL2	O95490	p.Asn371Ser	rs770884955	missense variant	-	NC_000001.11:g.81943683A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Tyr378Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81943705C>A	NCI-TCGA
ADGRL2	O95490	p.Val379Leu	rs538062733	missense variant	-	NC_000001.11:g.81943706G>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Val379Met	COSM1296723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943706G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asn381Ile	rs1475499522	missense variant	-	NC_000001.11:g.81943713A>T	TOPMed
ADGRL2	O95490	p.Asn381Ser	COSM1344475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943713A>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg387Gln	rs764875953	missense variant	-	NC_000001.11:g.81943731G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg387Leu	rs764875953	missense variant	-	NC_000001.11:g.81943731G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser389Phe	COSM3492719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943737C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Phe392Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81943746T>C	NCI-TCGA
ADGRL2	O95490	p.Phe392Leu	rs752532913	missense variant	-	NC_000001.11:g.81943747T>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly393Arg	rs762756082	missense variant	-	NC_000001.11:g.81943748G>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro395Ser	rs1285008174	missense variant	-	NC_000001.11:g.81943754C>T	gnomAD
ADGRL2	O95490	p.Asp396Glu	rs1331901685	missense variant	-	NC_000001.11:g.81943759T>A	gnomAD
ADGRL2	O95490	p.Asp396Asn	COSM4896286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943757G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Pro397Ser	COSM3492723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943760C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ala398Thr	rs763820650	missense variant	-	NC_000001.11:g.81943763G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln399His	rs1447421970	missense variant	-	NC_000001.11:g.81943768A>C	gnomAD
ADGRL2	O95490	p.Val400Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950189T>C	NCI-TCGA
ADGRL2	O95490	p.Thr402Ser	rs1342059572	missense variant	-	NC_000001.11:g.81950194A>T	TOPMed
ADGRL2	O95490	p.Ala404Thr	rs761410106	missense variant	-	NC_000001.11:g.81950200G>A	ExAC,gnomAD
ADGRL2	O95490	p.Val405Ala	rs749931960	missense variant	-	NC_000001.11:g.81950204T>C	ExAC,gnomAD
ADGRL2	O95490	p.Ile407Val	rs781239924	missense variant	-	NC_000001.11:g.81950209A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser409Phe	rs1199781519	missense variant	-	NC_000001.11:g.81950216C>T	gnomAD
ADGRL2	O95490	p.Ala411Pro	rs1308871550	missense variant	-	NC_000001.11:g.81950221G>C	gnomAD
ADGRL2	O95490	p.Ala411Val	rs1372578567	missense variant	-	NC_000001.11:g.81950222C>T	gnomAD
ADGRL2	O95490	p.Glu412Gln	rs1408102476	missense variant	-	NC_000001.11:g.81950224G>C	gnomAD
ADGRL2	O95490	p.Leu413Val	rs539643450	missense variant	-	NC_000001.11:g.81950227C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Leu413Gln	rs1332221301	missense variant	-	NC_000001.11:g.81950228T>A	TOPMed,gnomAD
ADGRL2	O95490	p.Phe414Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950231T>G	NCI-TCGA
ADGRL2	O95490	p.Thr416Ile	rs1236045063	missense variant	-	NC_000001.11:g.81950237C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Thr416Ser	rs1236045063	missense variant	-	NC_000001.11:g.81950237C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ile417Leu	NCI-TCGA novel	insertion	-	NC_000001.11:g.81950241_81950242insCTG	NCI-TCGA
ADGRL2	O95490	p.Ile417Val	rs139594598	missense variant	-	NC_000001.11:g.81950239A>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile418Val	rs1344754184	missense variant	-	NC_000001.11:g.81950242A>G	gnomAD
ADGRL2	O95490	p.Ile418Met	rs1206239294	missense variant	-	NC_000001.11:g.81950244A>G	gnomAD
ADGRL2	O95490	p.Ser419Ala	rs1274932787	missense variant	-	NC_000001.11:g.81950245T>G	gnomAD
ADGRL2	O95490	p.Ser419Leu	rs367932426	missense variant	-	NC_000001.11:g.81950246C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr420Ala	rs201834453	missense variant	-	NC_000001.11:g.81950248A>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ser422Arg	rs748305277	missense variant	-	NC_000001.11:g.81950256C>A	ExAC,gnomAD
ADGRL2	O95490	p.Thr423Ile	rs758616029	missense variant	-	NC_000001.11:g.81950258C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr424Ala	rs777775018	missense variant	-	NC_000001.11:g.81950260A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gln426Glu	rs370794666	missense variant	-	NC_000001.11:g.81950266C>G	ESP,TOPMed,gnomAD
ADGRL2	O95490	p.Lys427Asn	rs1414730811	missense variant	-	NC_000001.11:g.81950271A>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly428Asp	rs1190413156	missense variant	-	NC_000001.11:g.81950273G>A	TOPMed
ADGRL2	O95490	p.Gly428Ala	rs1190413156	missense variant	-	NC_000001.11:g.81950273G>C	TOPMed
ADGRL2	O95490	p.Pro429Leu	rs968852464	missense variant	-	NC_000001.11:g.81950276C>T	gnomAD
ADGRL2	O95490	p.Pro429His	COSM912472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950276C>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Met430Arg	rs916707063	missense variant	-	NC_000001.11:g.81950279T>G	TOPMed
ADGRL2	O95490	p.Met430Leu	rs1392294079	missense variant	-	NC_000001.11:g.81950278A>C	gnomAD
ADGRL2	O95490	p.Met430Ile	rs769663548	missense variant	-	NC_000001.11:g.81950280G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser431Gly	rs1307554352	missense variant	-	NC_000001.11:g.81950281A>G	gnomAD
ADGRL2	O95490	p.Thr432Ser	rs1391530909	missense variant	-	NC_000001.11:g.81950284A>T	gnomAD
ADGRL2	O95490	p.Thr433Ser	rs1388522029	missense variant	-	NC_000001.11:g.81950287A>T	TOPMed,gnomAD
ADGRL2	O95490	p.Thr433Ala	rs1388522029	missense variant	-	NC_000001.11:g.81950287A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Val434Leu	rs1322158439	missense variant	-	NC_000001.11:g.81950290G>T	gnomAD
ADGRL2	O95490	p.Gly440Ala	rs572962964	missense variant	-	NC_000001.11:g.81950309G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly440Glu	rs572962964	missense variant	-	NC_000001.11:g.81950309G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly440Arg	rs1343916722	missense variant	-	NC_000001.11:g.81950308G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Ser441Ile	rs1488525752	missense variant	-	NC_000001.11:g.81950312G>T	gnomAD
ADGRL2	O95490	p.Ser441Arg	rs927330174	missense variant	-	NC_000001.11:g.81950311A>C	gnomAD
ADGRL2	O95490	p.Lys442Glu	rs924181336	missense variant	-	NC_000001.11:g.81950314A>G	TOPMed
ADGRL2	O95490	p.Gly443Arg	rs1211050608	missense variant	-	NC_000001.11:g.81950317G>A	gnomAD
ADGRL2	O95490	p.Thr444Lys	rs767172348	missense variant	-	NC_000001.11:g.81950321C>A	ExAC,gnomAD
ADGRL2	O95490	p.Thr444Ala	rs367624384	missense variant	-	NC_000001.11:g.81950320A>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro446Thr	rs1189026835	missense variant	-	NC_000001.11:g.81950326C>A	TOPMed,gnomAD
ADGRL2	O95490	p.Pro446Ser	rs1189026835	missense variant	-	NC_000001.11:g.81950326C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Pro448Thr	rs760192036	missense variant	-	NC_000001.11:g.81950332C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val450Ala	rs1369210729	missense variant	-	NC_000001.11:g.81950339T>C	gnomAD
ADGRL2	O95490	p.Val450Phe	rs1168196940	missense variant	-	NC_000001.11:g.81950338G>T	gnomAD
ADGRL2	O95490	p.Ser451Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950342C>A	NCI-TCGA
ADGRL2	O95490	p.Thr452Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950345C>T	NCI-TCGA
ADGRL2	O95490	p.Thr452Ala	rs561207716	missense variant	-	NC_000001.11:g.81950344A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile455Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950354T>G	NCI-TCGA
ADGRL2	O95490	p.Pro456Ser	rs112681863	missense variant	-	NC_000001.11:g.81950356C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro456Leu	rs759899683	missense variant	-	NC_000001.11:g.81950357C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile458Val	rs199620944	missense variant	-	NC_000001.11:g.81950362A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile458Met	rs753048297	missense variant	-	NC_000001.11:g.81950364A>G	ExAC
ADGRL2	O95490	p.Asn460Lys	rs758597116	missense variant	-	NC_000001.11:g.81950370T>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile461Thr	rs560176083	missense variant	-	NC_000001.11:g.81950372T>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ile461Ser	rs560176083	missense variant	-	NC_000001.11:g.81950372T>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ile461Met	COSM4010106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950373T>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Phe462Ser	rs751626246	missense variant	-	NC_000001.11:g.81950375T>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro463Leu	rs757313514	missense variant	-	NC_000001.11:g.81950378C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro463Ser	COSM3492727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950377C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu464Pro	rs1263136262	missense variant	-	NC_000001.11:g.81950381T>C	gnomAD
ADGRL2	O95490	p.Pro465Leu	rs779871071	missense variant	-	NC_000001.11:g.81950384C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg467Ser	rs201613006	missense variant	-	NC_000001.11:g.81950391A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg467Lys	COSM5247223	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950390G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg467Ile	COSM912474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950390G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg467Thr	VAR_077836	Missense	-	-	UniProt
ADGRL2	O95490	p.Phe468Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950394C>A	NCI-TCGA
ADGRL2	O95490	p.Phe468Leu	rs918614589	missense variant	-	NC_000001.11:g.81950394C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Phe468Leu	COSM282468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950392T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Cys469Tyr	rs778897402	missense variant	-	NC_000001.11:g.81950396G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asp473Gly	rs1257157242	missense variant	-	NC_000001.11:g.81950408A>G	gnomAD
ADGRL2	O95490	p.Ser474Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950411C>G	NCI-TCGA
ADGRL2	O95490	p.Lys475Thr	rs900274477	missense variant	-	NC_000001.11:g.81950414A>C	TOPMed,gnomAD
ADGRL2	O95490	p.Lys475Arg	rs900274477	missense variant	-	NC_000001.11:g.81950414A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Lys475Met	COSM4010110	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950414A>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly476Arg	rs1185573836	missense variant	-	NC_000001.11:g.81950416G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Gly476Glu	rs1471367918	missense variant	-	NC_000001.11:g.81950417G>A	TOPMed
ADGRL2	O95490	p.Trp479Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950425T>C	NCI-TCGA
ADGRL2	O95490	p.Pro480Ser	rs771653946	missense variant	-	NC_000001.11:g.81950428C>T	ExAC,gnomAD
ADGRL2	O95490	p.Gln481Ter	COSM4836183	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81950431C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr482Ser	rs551874502	missense variant	-	NC_000001.11:g.81950434A>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Thr482Ala	rs551874502	missense variant	-	NC_000001.11:g.81950434A>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Gln483Glu	rs186256320	missense variant	-	NC_000001.11:g.81950437C>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Gly485Ala	rs1457067591	missense variant	-	NC_000001.11:g.81950444G>C	gnomAD
ADGRL2	O95490	p.Met486Val	rs770405766	missense variant	-	NC_000001.11:g.81950446A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met487Val	rs776115597	missense variant	-	NC_000001.11:g.81950449A>G	ExAC,gnomAD
ADGRL2	O95490	p.Met487Thr	rs1397398600	missense variant	-	NC_000001.11:g.81950450T>C	gnomAD
ADGRL2	O95490	p.Glu489Gln	rs1310034801	missense variant	-	NC_000001.11:g.81950455G>C	gnomAD
ADGRL2	O95490	p.Arg490Gln	rs765710656	missense variant	-	NC_000001.11:g.81950459G>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro491Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950461C>T	NCI-TCGA
ADGRL2	O95490	p.Pro491Ala	rs753101549	missense variant	-	NC_000001.11:g.81950461C>G	ExAC,gnomAD
ADGRL2	O95490	p.Pro491Leu	rs758607216	missense variant	-	NC_000001.11:g.81950462C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly495Arg	rs763341128	missense variant	-	NC_000001.11:g.81950473G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly495Glu	rs1198941375	missense variant	-	NC_000001.11:g.81950474G>A	gnomAD
ADGRL2	O95490	p.Thr496Arg	rs764247248	missense variant	-	NC_000001.11:g.81950477C>G	ExAC,gnomAD
ADGRL2	O95490	p.Thr496Ile	rs764247248	missense variant	-	NC_000001.11:g.81950477C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg497LysTerGluLeu	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81950480_81950481insGAAATGAGAATT	NCI-TCGA
ADGRL2	O95490	p.Arg497Gly	rs1327794285	missense variant	-	NC_000001.11:g.81950479A>G	TOPMed
ADGRL2	O95490	p.Gly498Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81950482G>A	NCI-TCGA
ADGRL2	O95490	p.Gly498Ala	rs1480627062	missense variant	-	NC_000001.11:g.81951018G>C	gnomAD
ADGRL2	O95490	p.Ser501Leu	rs1427790721	missense variant	-	NC_000001.11:g.81951027C>T	gnomAD
ADGRL2	O95490	p.Leu503Phe	rs759016504	missense variant	-	NC_000001.11:g.81951032C>T	ExAC,gnomAD
ADGRL2	O95490	p.Met505Val	rs1394140104	missense variant	-	NC_000001.11:g.81951038A>G	gnomAD
ADGRL2	O95490	p.Met505Ile	COSM3492739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81951040G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ile506Phe	rs770320770	missense variant	-	NC_000001.11:g.81951041A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser507Pro	rs375025939	missense variant	-	NC_000001.11:g.81951044T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr508Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81951048C>T	NCI-TCGA
ADGRL2	O95490	p.Gly509Val	rs1172737484	missense variant	-	NC_000001.11:g.81951051G>T	gnomAD
ADGRL2	O95490	p.Asn512Asp	rs763242537	missense variant	-	NC_000001.11:g.81951059A>G	ExAC,gnomAD
ADGRL2	O95490	p.Pro513Leu	rs764455185	missense variant	-	NC_000001.11:g.81951063C>T	ExAC,gnomAD
ADGRL2	O95490	p.Pro513Arg	rs764455185	missense variant	-	NC_000001.11:g.81951063C>G	ExAC,gnomAD
ADGRL2	O95490	p.Lys514Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81951065A>G	NCI-TCGA
ADGRL2	O95490	p.Pro516Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81951072C>G	NCI-TCGA
ADGRL2	O95490	p.Asp517Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81951075A>C	NCI-TCGA
ADGRL2	O95490	p.Asp517Asn	rs767811966	missense variant	-	NC_000001.11:g.81951074G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser519Thr	rs1343201443	missense variant	-	NC_000001.11:g.81951081G>C	gnomAD
ADGRL2	O95490	p.Asn520Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81951085C>A	NCI-TCGA
ADGRL2	O95490	p.Asn520Lys	rs750558783	missense variant	-	NC_000001.11:g.81951085C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn520Ser	rs1230873479	missense variant	-	NC_000001.11:g.81951084A>G	gnomAD
ADGRL2	O95490	p.Cys521Ser	rs1307000905	missense variant	-	NC_000001.11:g.81951087G>C	gnomAD
ADGRL2	O95490	p.Thr522Ala	rs1222327871	missense variant	-	NC_000001.11:g.81951089A>G	gnomAD
ADGRL2	O95490	p.Ser523Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81951093C>A	NCI-TCGA
ADGRL2	O95490	p.Ser523Leu	COSM3492743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81951093C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Trp525Leu	rs1487772342	missense variant	-	NC_000001.11:g.81951099G>T	gnomAD
ADGRL2	O95490	p.Leu529Met	rs1026120553	missense variant	-	NC_000001.11:g.81951110C>A	gnomAD
ADGRL2	O95490	p.Ala530Ser	rs147910384	missense variant	-	NC_000001.11:g.81951113G>T	1000Genomes,ESP,ExAC,gnomAD
ADGRL2	O95490	p.Ala530Thr	rs147910384	missense variant	-	NC_000001.11:g.81951113G>A	1000Genomes,ESP,ExAC,gnomAD
ADGRL2	O95490	p.Lys532Asn	rs1170099299	missense variant	-	NC_000001.11:g.81951121G>T	gnomAD
ADGRL2	O95490	p.Arg534Ser	rs757001353	missense variant	-	NC_000001.11:g.81951962A>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg534Lys	rs751402495	missense variant	-	NC_000001.11:g.81951961G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser535Gly	rs780840604	missense variant	-	NC_000001.11:g.81951963A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gly536Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81951967G>T	NCI-TCGA
ADGRL2	O95490	p.Gly536Arg	rs755762837	missense variant	-	NC_000001.11:g.81951966G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu537Ala	rs779661718	missense variant	-	NC_000001.11:g.81951970A>C	ExAC,gnomAD
ADGRL2	O95490	p.Glu537Asp	rs748714494	missense variant	-	NC_000001.11:g.81951971A>C	ExAC,gnomAD
ADGRL2	O95490	p.Asn538Asp	rs769233366	missense variant	-	NC_000001.11:g.81951972A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ala539Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81951975G>A	NCI-TCGA
ADGRL2	O95490	p.Ala540Pro	rs774668867	missense variant	-	NC_000001.11:g.81951978G>C	ExAC,gnomAD
ADGRL2	O95490	p.Ser541Arg	rs748535553	missense variant	-	NC_000001.11:g.81951981A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser541Gly	rs748535553	missense variant	-	NC_000001.11:g.81951981A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser541Asn	rs1446128752	missense variant	-	NC_000001.11:g.81951982G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Leu542His	rs1262664165	missense variant	-	NC_000001.11:g.81951985T>A	gnomAD
ADGRL2	O95490	p.Ala543Thr	rs193155723	missense variant	-	NC_000001.11:g.81951987G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala543Val	COSM912476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81951988C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asn544Ser	rs773706452	missense variant	-	NC_000001.11:g.81951991A>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu546Val	rs761035228	missense variant	-	NC_000001.11:g.81951996C>G	ExAC,gnomAD
ADGRL2	O95490	p.Ala547Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81951999G>A	NCI-TCGA
ADGRL2	O95490	p.Lys548Gln	rs771258305	missense variant	-	NC_000001.11:g.81952002A>C	ExAC,gnomAD
ADGRL2	O95490	p.His549Arg	rs776813714	missense variant	-	NC_000001.11:g.81952006A>G	ExAC,gnomAD
ADGRL2	O95490	p.Thr550Ala	rs1303997544	missense variant	-	NC_000001.11:g.81952008A>G	TOPMed
ADGRL2	O95490	p.Lys551Arg	rs141619218	missense variant	-	NC_000001.11:g.81952012A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly552Ala	rs1352309477	missense variant	-	NC_000001.11:g.81952015G>C	TOPMed
ADGRL2	O95490	p.Gly552Trp	rs1383962316	missense variant	-	NC_000001.11:g.81952014G>T	gnomAD
ADGRL2	O95490	p.Gly552Arg	COSM1296725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952014G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Val554Met	rs1027193209	missense variant	-	NC_000001.11:g.81952020G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Val554Leu	rs1027193209	missense variant	-	NC_000001.11:g.81952020G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Val554Ala	rs1373813136	missense variant	-	NC_000001.11:g.81952021T>C	gnomAD
ADGRL2	O95490	p.Ala556Pro	rs564846501	missense variant	-	NC_000001.11:g.81952026G>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ala556Val	rs1289031357	missense variant	-	NC_000001.11:g.81952027C>T	gnomAD
ADGRL2	O95490	p.Asp558Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81952032G>A	NCI-TCGA
ADGRL2	O95490	p.Asp558Val	rs761606004	missense variant	-	NC_000001.11:g.81952033A>T	ExAC,gnomAD
ADGRL2	O95490	p.Val559Leu	rs952925844	missense variant	-	NC_000001.11:g.81952035G>C	TOPMed
ADGRL2	O95490	p.Val559Ile	COSM3782491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952035G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser560Arg	COSM6127480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952038A>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser561Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81952042C>A	NCI-TCGA
ADGRL2	O95490	p.Ser561Phe	rs755801633	missense variant	-	NC_000001.11:g.81952042C>T	ExAC,gnomAD
ADGRL2	O95490	p.Val563Met	rs533343795	missense variant	-	NC_000001.11:g.81952047G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met566Thr	rs149537195	missense variant	-	NC_000001.11:g.81952057T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met566Leu	rs753407518	missense variant	-	NC_000001.11:g.81952056A>T	ExAC,gnomAD
ADGRL2	O95490	p.Glu567Ter	COSM6127471	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81952059G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gln568Arg	rs1014514997	missense variant	-	NC_000001.11:g.81952063A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Val570Ala	rs779479290	missense variant	-	NC_000001.11:g.81952069T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp571Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81952071G>A	NCI-TCGA
ADGRL2	O95490	p.Ile572Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81952074A>G	NCI-TCGA
ADGRL2	O95490	p.Leu573Val	rs772691879	missense variant	-	NC_000001.11:g.81952077C>G	ExAC,gnomAD
ADGRL2	O95490	p.Gln576Leu	rs375241960	missense variant	-	NC_000001.11:g.81952087A>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln576His	COSM1344479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952088G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gln578Pro	rs1328793780	missense variant	-	NC_000001.11:g.81952093A>C	gnomAD
ADGRL2	O95490	p.Gln578His	COSM1344481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952094G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Glu579Lys	rs1332134220	missense variant	-	NC_000001.11:g.81952095G>A	gnomAD
ADGRL2	O95490	p.Leu580Met	rs775637676	missense variant	-	NC_000001.11:g.81952098C>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro582Ser	rs1458226486	missense variant	-	NC_000001.11:g.81952104C>T	TOPMed
ADGRL2	O95490	p.Ser583Asn	rs767408547	missense variant	-	NC_000001.11:g.81952108G>A	ExAC,gnomAD
ADGRL2	O95490	p.Glu584Lys	COSM3492751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952110G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asp586His	rs750247530	missense variant	-	NC_000001.11:g.81952116G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly589Ala	rs1340875631	missense variant	-	NC_000001.11:g.81952126G>C	gnomAD
ADGRL2	O95490	p.Arg590Trp	rs766066027	missense variant	-	NC_000001.11:g.81952128C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg590Gln	rs370124207	missense variant	-	NC_000001.11:g.81952129G>A	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Ser591Thr	rs754652149	missense variant	-	NC_000001.11:g.81952132G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser591Asn	rs754652149	missense variant	-	NC_000001.11:g.81952132G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Lys594Thr	rs143207053	missense variant	-	NC_000001.11:g.81952141A>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu595Pro	rs1402164434	missense variant	-	NC_000001.11:g.81952988T>C	TOPMed
ADGRL2	O95490	p.Leu595Phe	rs1296761815	missense variant	-	NC_000001.11:g.81952987C>T	TOPMed
ADGRL2	O95490	p.Lys597AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81952991A>-	NCI-TCGA
ADGRL2	O95490	p.Arg598Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81952997G>T	NCI-TCGA
ADGRL2	O95490	p.Arg598Ter	rs940146446	stop gained	-	NC_000001.11:g.81952996C>T	TOPMed
ADGRL2	O95490	p.Arg598Gln	rs757781676	missense variant	-	NC_000001.11:g.81952997G>A	ExAC,gnomAD
ADGRL2	O95490	p.Lys600Met	rs1412323474	missense variant	-	NC_000001.11:g.81953003A>T	TOPMed
ADGRL2	O95490	p.Arg603Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81953012G>T	NCI-TCGA
ADGRL2	O95490	p.Arg603Gly	rs746225953	missense variant	-	NC_000001.11:g.81953011A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala604Val	rs756318632	missense variant	-	NC_000001.11:g.81953015C>T	ExAC,gnomAD
ADGRL2	O95490	p.Ile609Thr	rs368524872	missense variant	-	NC_000001.11:g.81955881T>C	ESP,gnomAD
ADGRL2	O95490	p.Ile609Val	rs1310513506	missense variant	-	NC_000001.11:g.81955880A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Val610Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81955884T>C	NCI-TCGA
ADGRL2	O95490	p.Asp611Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81955886G>A	NCI-TCGA
ADGRL2	O95490	p.Val613Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81955892G>A	NCI-TCGA
ADGRL2	O95490	p.Asp614Tyr	rs889209448	missense variant	-	NC_000001.11:g.81955895G>T	gnomAD
ADGRL2	O95490	p.Asn615Ser	rs757757087	missense variant	-	NC_000001.11:g.81955899A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn615Ile	COSM4010115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81955899A>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Glu623Lys	rs1019404771	missense variant	-	NC_000001.11:g.81955922G>A	TOPMed
ADGRL2	O95490	p.Ser624ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81955920_81955927TGGAATCA>-	NCI-TCGA
ADGRL2	O95490	p.Ser624Pro	rs1486757897	missense variant	-	NC_000001.11:g.81955925T>C	gnomAD
ADGRL2	O95490	p.His627Tyr	rs780256229	missense variant	-	NC_000001.11:g.81955934C>T	ExAC,gnomAD
ADGRL2	O95490	p.His627Arg	rs754124685	missense variant	-	NC_000001.11:g.81955935A>G	ExAC
ADGRL2	O95490	p.Met628Thr	rs779012595	missense variant	-	NC_000001.11:g.81955938T>C	ExAC,gnomAD
ADGRL2	O95490	p.Asn629Ser	rs770805819	missense variant	-	NC_000001.11:g.81955941A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asn629Asp	rs748227216	missense variant	-	NC_000001.11:g.81955940A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ser630Tyr	COSM912478	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81955944C>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Glu632Gly	rs1185493188	missense variant	-	NC_000001.11:g.81955950A>G	TOPMed
ADGRL2	O95490	p.Gln633Arg	rs1377885779	missense variant	-	NC_000001.11:g.81955953A>G	gnomAD
ADGRL2	O95490	p.Ala634Gly	rs781134792	missense variant	-	NC_000001.11:g.81955956C>G	ExAC,gnomAD
ADGRL2	O95490	p.His635Tyr	rs1484607410	missense variant	-	NC_000001.11:g.81955958C>T	TOPMed
ADGRL2	O95490	p.His635Gln	rs756854901	missense variant	-	NC_000001.11:g.81955960T>A	ExAC,gnomAD
ADGRL2	O95490	p.Thr636Ser	rs1262168685	missense variant	-	NC_000001.11:g.81955962C>G	TOPMed
ADGRL2	O95490	p.Thr638Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81955967A>G	NCI-TCGA
ADGRL2	O95490	p.Met639Ile	rs762754075	missense variant	-	NC_000001.11:g.81955972G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met639Thr	rs1176474957	missense variant	-	NC_000001.11:g.81955971T>C	gnomAD
ADGRL2	O95490	p.Met639Val	rs775424081	missense variant	-	NC_000001.11:g.81955970A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met639Ile	rs762754075	missense variant	-	NC_000001.11:g.81955972G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu644Val	rs767919508	missense variant	-	NC_000001.11:g.81955985T>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu646Lys	rs1324265095	missense variant	-	NC_000001.11:g.81955991G>A	TOPMed
ADGRL2	O95490	p.Gly647Glu	rs750872794	missense variant	-	NC_000001.11:g.81955995G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ala648Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81955998C>A	NCI-TCGA
ADGRL2	O95490	p.Phe649Ser	rs1381761655	missense variant	-	NC_000001.11:g.81956001T>C	TOPMed
ADGRL2	O95490	p.Val650Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81956003G>T	NCI-TCGA
ADGRL2	O95490	p.Val650Asp	rs375944749	missense variant	-	NC_000001.11:g.81956004T>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala652Gly	rs573774273	missense variant	-	NC_000001.11:g.81956010C>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asp653Gly	rs754177828	missense variant	-	NC_000001.11:g.81956013A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp653Glu	rs542482663	missense variant	-	NC_000001.11:g.81956014C>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asn654Ser	rs779067381	missense variant	-	NC_000001.11:g.81956016A>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu655Arg	rs1380650355	missense variant	-	NC_000001.11:g.81956019T>G	gnomAD
ADGRL2	O95490	p.Leu655Val	rs1290659850	missense variant	-	NC_000001.11:g.81956018C>G	TOPMed
ADGRL2	O95490	p.Leu655Phe	COSM3866138	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81956018C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Pro658Ala	rs1480576287	missense variant	-	NC_000001.11:g.81956027C>G	gnomAD
ADGRL2	O95490	p.Thr659LysTerPheSer	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81956030_81956031insAGTGATTTT	NCI-TCGA
ADGRL2	O95490	p.Thr659Ile	rs1431791270	missense variant	-	NC_000001.11:g.81956031C>T	TOPMed
ADGRL2	O95490	p.Arg660Gly	rs1255275174	missense variant	-	NC_000001.11:g.81956033A>G	gnomAD
ADGRL2	O95490	p.Ser662Pro	rs1455362630	missense variant	-	NC_000001.11:g.81956039T>C	gnomAD
ADGRL2	O95490	p.Ser662Ter	COSM1296727	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81956040C>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Met663Ile	rs758446671	missense variant	-	NC_000001.11:g.81956044G>A	ExAC,gnomAD
ADGRL2	O95490	p.Met663Val	rs1007743435	missense variant	-	NC_000001.11:g.81956042A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Thr665Ala	rs1410070749	missense variant	-	NC_000001.11:g.81956048A>G	gnomAD
ADGRL2	O95490	p.Glu666Asp	rs1171861872	missense variant	-	NC_000001.11:g.81956053A>C	gnomAD
ADGRL2	O95490	p.Glu666Lys	COSM3492755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81956051G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ile668Thr	rs199758386	missense variant	-	NC_000001.11:g.81956058T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val669Phe	COSM3492759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81956060G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu670Val	rs1228909918	missense variant	-	NC_000001.11:g.81966060C>G	gnomAD
ADGRL2	O95490	p.Glu671Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81966065A>T	NCI-TCGA
ADGRL2	O95490	p.Val672Ile	rs751669877	missense variant	-	NC_000001.11:g.81966066G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala673Val	rs757872735	missense variant	-	NC_000001.11:g.81966070C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val674Ile	rs142415541	missense variant	-	NC_000001.11:g.81966072G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val674Leu	rs142415541	missense variant	-	NC_000001.11:g.81966072G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu675Val	rs1323537587	missense variant	-	NC_000001.11:g.81966075C>G	TOPMed
ADGRL2	O95490	p.Ser676Thr	COSM6127462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966079G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr677Lys	rs1020642762	missense variant	-	NC_000001.11:g.81966082C>A	TOPMed
ADGRL2	O95490	p.Gly679Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81966087G>T	NCI-TCGA
ADGRL2	O95490	p.Gln682Arg	rs1292115637	missense variant	-	NC_000001.11:g.81966097A>G	gnomAD
ADGRL2	O95490	p.Asp683Asn	rs1239946220	missense variant	-	NC_000001.11:g.81966099G>A	gnomAD
ADGRL2	O95490	p.Asp683Ala	rs1485272283	missense variant	-	NC_000001.11:g.81966100A>C	gnomAD
ADGRL2	O95490	p.Lys685Asn	COSM3492768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966107A>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Phe686Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81966109T>G	NCI-TCGA
ADGRL2	O95490	p.Pro687Ser	rs866926691	missense variant	-	NC_000001.11:g.81966111C>T	-
ADGRL2	O95490	p.Gly689Ser	rs747889657	missense variant	-	NC_000001.11:g.81966117G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly694Asp	rs1290590350	missense variant	-	NC_000001.11:g.81966133G>A	TOPMed
ADGRL2	O95490	p.Ile697Val	rs61738843	missense variant	-	NC_000001.11:g.81966141A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ser700Phe	rs1349936299	missense variant	-	NC_000001.11:g.81966151C>T	TOPMed
ADGRL2	O95490	p.Ala701Thr	rs759899407	missense variant	-	NC_000001.11:g.81966153G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala701Val	rs145425053	missense variant	-	NC_000001.11:g.81966154C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala701Ser	COSM1344483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966153G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asn702Ile	rs1315386617	missense variant	-	NC_000001.11:g.81966157A>T	gnomAD
ADGRL2	O95490	p.Val704Ile	rs147920563	missense variant	-	NC_000001.11:g.81966162G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val704Phe	rs147920563	missense variant	-	NC_000001.11:g.81966162G>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln706Arg	rs200568074	missense variant	-	NC_000001.11:g.81966169A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn707Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81966171A>T	NCI-TCGA
ADGRL2	O95490	p.Leu712Phe	rs775966822	missense variant	-	NC_000001.11:g.81966406C>T	ExAC,gnomAD
ADGRL2	O95490	p.Lys714Asn	rs1279210773	missense variant	-	NC_000001.11:g.81966414G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Lys714Asn	rs1279210773	missense variant	-	NC_000001.11:g.81966414G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Leu715Phe	rs552322182	missense variant	-	NC_000001.11:g.81966417G>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Val716Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81966418G>C	NCI-TCGA
ADGRL2	O95490	p.Ile718Val	rs1009296035	missense variant	-	NC_000001.11:g.81966424A>G	gnomAD
ADGRL2	O95490	p.Ile719Leu	rs764403869	missense variant	-	NC_000001.11:g.81966427A>C	ExAC,gnomAD
ADGRL2	O95490	p.Arg721Gln	rs538105960	missense variant	-	NC_000001.11:g.81966434G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg721Trp	rs141918220	missense variant	-	NC_000001.11:g.81966433C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser722Thr	rs767760729	missense variant	-	NC_000001.11:g.81966437G>C	ExAC,gnomAD
ADGRL2	O95490	p.Leu723Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81966439C>A	NCI-TCGA
ADGRL2	O95490	p.Gly724Glu	rs750505842	missense variant	-	NC_000001.11:g.81966443G>A	ExAC,gnomAD
ADGRL2	O95490	p.Phe726Ser	rs765044063	missense variant	-	NC_000001.11:g.81966449T>C	ExAC,gnomAD
ADGRL2	O95490	p.Ser728Thr	rs1449390188	missense variant	-	NC_000001.11:g.81966455G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Thr729Ile	rs958097534	missense variant	-	NC_000001.11:g.81966458C>T	TOPMed
ADGRL2	O95490	p.Glu730Gly	rs1169029507	missense variant	-	NC_000001.11:g.81966461A>G	gnomAD
ADGRL2	O95490	p.Asn731Asp	rs1166610234	missense variant	-	NC_000001.11:g.81966463A>G	TOPMed
ADGRL2	O95490	p.Thr733Ala	rs758149184	missense variant	-	NC_000001.11:g.81966469A>G	gnomAD
ADGRL2	O95490	p.Ile734Val	rs1447789363	missense variant	-	NC_000001.11:g.81966472A>G	TOPMed
ADGRL2	O95490	p.Lys735Glu	rs1328357460	missense variant	-	NC_000001.11:g.81966475A>G	gnomAD
ADGRL2	O95490	p.Lys735Ile	rs1371992408	missense variant	-	NC_000001.11:g.81966476A>T	gnomAD
ADGRL2	O95490	p.Gly742Asp	rs1443449341	missense variant	-	NC_000001.11:g.81966497G>A	gnomAD
ADGRL2	O95490	p.Arg743Leu	rs141656433	missense variant	-	NC_000001.11:g.81966500G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg743His	rs141656433	missense variant	-	NC_000001.11:g.81966500G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg743Gly	rs751279635	missense variant	-	NC_000001.11:g.81966499C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg743Cys	rs751279635	missense variant	-	NC_000001.11:g.81966499C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala748Thr	rs1232383993	missense variant	-	NC_000001.11:g.81966514G>A	gnomAD
ADGRL2	O95490	p.Ala748Val	rs770366997	missense variant	-	NC_000001.11:g.81966515C>T	ExAC,gnomAD
ADGRL2	O95490	p.Ala748Ser	rs1232383993	missense variant	-	NC_000001.11:g.81966514G>T	gnomAD
ADGRL2	O95490	p.His752Leu	rs1202570802	missense variant	-	NC_000001.11:g.81966527A>T	TOPMed
ADGRL2	O95490	p.His752Gln	rs749681000	missense variant	-	NC_000001.11:g.81966528C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His752Asn	rs965893779	missense variant	-	NC_000001.11:g.81966526C>A	TOPMed
ADGRL2	O95490	p.Ser755Leu	COSM141865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966536C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser757Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81966542C>T	NCI-TCGA
ADGRL2	O95490	p.Ile758Thr	rs1203602141	missense variant	-	NC_000001.11:g.81966545T>C	TOPMed
ADGRL2	O95490	p.Lys760ArgPheSerTerUnk	COSM4167701	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81966550_81966551AA>-	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser762Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81966557C>G	NCI-TCGA
ADGRL2	O95490	p.Arg764Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81966563G>T	NCI-TCGA
ADGRL2	O95490	p.Arg764Pro	rs553433819	missense variant	-	NC_000001.11:g.81966563G>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg764Gln	rs553433819	missense variant	-	NC_000001.11:g.81966563G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu772Arg	rs949238240	missense variant	-	NC_000001.11:g.81966587T>G	TOPMed
ADGRL2	O95490	p.Phe773Leu	COSM4010120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966589T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr774Pro	rs751334792	missense variant	-	NC_000001.11:g.81966592A>C	ExAC,gnomAD
ADGRL2	O95490	p.Leu775ProPheSerTerUnk	COSM5131998	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81966592_81966593insC	NCI-TCGA Cosmic
ADGRL2	O95490	p.Pro776Leu	rs756946253	missense variant	-	NC_000001.11:g.81966599C>T	ExAC,gnomAD
ADGRL2	O95490	p.His777Pro	rs534894740	missense variant	-	NC_000001.11:g.81966602A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile778Thr	rs749974813	missense variant	-	NC_000001.11:g.81966605T>C	ExAC,gnomAD
ADGRL2	O95490	p.Asp779Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81966608A>G	NCI-TCGA
ADGRL2	O95490	p.Pro780Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968026C>T	NCI-TCGA
ADGRL2	O95490	p.Pro780Ala	rs1297530576	missense variant	-	NC_000001.11:g.81968026C>G	gnomAD
ADGRL2	O95490	p.Asn782Ser	rs774165597	missense variant	-	NC_000001.11:g.81968033A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe784Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968040C>G	NCI-TCGA
ADGRL2	O95490	p.Phe784Ile	rs1306974327	missense variant	-	NC_000001.11:g.81968038T>A	TOPMed
ADGRL2	O95490	p.Asn785Ser	rs1477185157	missense variant	-	NC_000001.11:g.81968042A>G	gnomAD
ADGRL2	O95490	p.Ala786Gly	rs1234596485	missense variant	-	NC_000001.11:g.81968045C>G	gnomAD
ADGRL2	O95490	p.Cys788Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81968052C>A	NCI-TCGA
ADGRL2	O95490	p.Phe790Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968058C>G	NCI-TCGA
ADGRL2	O95490	p.Tyr793Cys	rs1170613954	missense variant	-	NC_000001.11:g.81968066A>G	gnomAD
ADGRL2	O95490	p.Met798Val	rs902638170	missense variant	-	NC_000001.11:g.81968080A>G	gnomAD
ADGRL2	O95490	p.Met799Ile	rs1486979921	missense variant	-	NC_000001.11:g.81968085G>A	gnomAD
ADGRL2	O95490	p.Gly800Arg	rs1216545723	missense variant	-	NC_000001.11:g.81968086G>A	TOPMed
ADGRL2	O95490	p.Ser803Thr	rs571951429	missense variant	-	NC_000001.11:g.81968095T>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Gln805Pro	rs755571301	missense variant	-	NC_000001.11:g.81968102A>C	ExAC,gnomAD
ADGRL2	O95490	p.Val810Ala	rs779511713	missense variant	-	NC_000001.11:g.81968117T>C	ExAC,gnomAD
ADGRL2	O95490	p.Val810Ile	rs1340238659	missense variant	-	NC_000001.11:g.81968116G>A	TOPMed
ADGRL2	O95490	p.Asp811Tyr	rs1161596453	missense variant	-	NC_000001.11:g.81968119G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Lys814Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968129A>C	NCI-TCGA
ADGRL2	O95490	p.Thr815Ser	rs748535444	missense variant	-	NC_000001.11:g.81968132C>G	ExAC,gnomAD
ADGRL2	O95490	p.Arg816Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81968134C>T	NCI-TCGA
ADGRL2	O95490	p.Arg816Gln	rs145464208	missense variant	-	NC_000001.11:g.81968135G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr818Met	rs374306241	missense variant	-	NC_000001.11:g.81968141C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser822Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968153G>T	NCI-TCGA
ADGRL2	O95490	p.Thr825Ile	rs1330546550	missense variant	-	NC_000001.11:g.81968162C>T	TOPMed
ADGRL2	O95490	p.Thr825Pro	rs937532470	missense variant	-	NC_000001.11:g.81968161A>C	TOPMed
ADGRL2	O95490	p.Asn826Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968165A>C	NCI-TCGA
ADGRL2	O95490	p.Asn826Ser	rs776616316	missense variant	-	NC_000001.11:g.81968165A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala828Thr	rs745910426	missense variant	-	NC_000001.11:g.81968170G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile829Val	rs768605517	missense variant	-	NC_000001.11:g.81968173A>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu830Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968176C>A	NCI-TCGA
ADGRL2	O95490	p.Leu830Arg	rs1412545427	missense variant	-	NC_000001.11:g.81968177T>G	TOPMed
ADGRL2	O95490	p.Met831Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968181G>T	NCI-TCGA
ADGRL2	O95490	p.Ala832Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968182G>A	NCI-TCGA
ADGRL2	O95490	p.Ala832Ser	rs1336359857	missense variant	-	NC_000001.11:g.81968182G>T	gnomAD
ADGRL2	O95490	p.Ala832Val	COSM1344485	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81968183C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.His833Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968186A>G	NCI-TCGA
ADGRL2	O95490	p.His833Tyr	rs1239875078	missense variant	-	NC_000001.11:g.81968185C>T	gnomAD
ADGRL2	O95490	p.Arg834Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81968189G>A	NCI-TCGA
ADGRL2	O95490	p.Arg834Gly	rs774220540	missense variant	-	NC_000001.11:g.81968188A>G	ExAC,gnomAD
ADGRL2	O95490	p.Glu835Lys	rs1324770310	missense variant	-	NC_000001.11:g.81968191G>A	gnomAD
ADGRL2	O95490	p.Ile836Met	rs761605949	missense variant	-	NC_000001.11:g.81968196T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ala837Thr	rs1209408927	missense variant	-	NC_000001.11:g.81968197G>A	gnomAD
ADGRL2	O95490	p.Tyr838Cys	rs1253347555	missense variant	-	NC_000001.11:g.81969179A>G	gnomAD
ADGRL2	O95490	p.Tyr838His	rs376619865	missense variant	-	NC_000001.11:g.81969178T>C	ESP
ADGRL2	O95490	p.Lys839Glu	rs199597889	missense variant	-	NC_000001.11:g.81969181A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp840Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81969185A>C	NCI-TCGA
ADGRL2	O95490	p.Asp840Tyr	rs1189334334	missense variant	-	NC_000001.11:g.81969184G>T	gnomAD
ADGRL2	O95490	p.Val842Ala	rs1479119215	missense variant	-	NC_000001.11:g.81969191T>C	gnomAD
ADGRL2	O95490	p.Val842Ile	rs137977766	missense variant	-	NC_000001.11:g.81969190G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His843Arg	rs1171880223	missense variant	-	NC_000001.11:g.81969194A>G	gnomAD
ADGRL2	O95490	p.Glu844Ala	rs1021670353	missense variant	-	NC_000001.11:g.81969197A>C	TOPMed
ADGRL2	O95490	p.Glu844Gly	COSM912486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81969197A>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu847Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81969205C>T	NCI-TCGA
ADGRL2	O95490	p.Thr848Ile	rs968816039	missense variant	-	NC_000001.11:g.81969209C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Ile850Val	rs1326197345	missense variant	-	NC_000001.11:g.81969214A>G	gnomAD
ADGRL2	O95490	p.Thr851Ser	rs764906475	missense variant	-	NC_000001.11:g.81969217A>T	ExAC,gnomAD
ADGRL2	O95490	p.Thr851Asn	rs752223131	missense variant	-	NC_000001.11:g.81969218C>A	ExAC,gnomAD
ADGRL2	O95490	p.Val853Met	rs1220030732	missense variant	-	NC_000001.11:g.81969223G>A	TOPMed
ADGRL2	O95490	p.Ile855Phe	rs143972563	missense variant	-	NC_000001.11:g.81969229A>T	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Ser858Phe	COSM3492797	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81969239C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu859Phe	rs141164723	missense variant	-	NC_000001.11:g.81969241C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val860Ile	rs567320115	missense variant	-	NC_000001.11:g.81969244G>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Cys861Ser	rs369954151	missense variant	-	NC_000001.11:g.81969248G>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Cys861Phe	rs369954151	missense variant	-	NC_000001.11:g.81969248G>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala863Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81969253G>A	NCI-TCGA
ADGRL2	O95490	p.Ile864Val	rs780161057	missense variant	-	NC_000001.11:g.81969256A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Cys865Tyr	rs1197317758	missense variant	-	NC_000001.11:g.81969260G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Ile866Val	rs141036576	missense variant	-	NC_000001.11:g.81969262A>G	ESP,TOPMed,gnomAD
ADGRL2	O95490	p.Phe869Leu	COSM3966761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81969271T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Phe871Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81969279T>A	NCI-TCGA
ADGRL2	O95490	p.Phe872Ser	rs1188242356	missense variant	-	NC_000001.11:g.81969281T>C	gnomAD
ADGRL2	O95490	p.Arg873Cys	rs777702018	missense variant	-	NC_000001.11:g.81969283C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg873His	rs576674053	missense variant	-	NC_000001.11:g.81969284G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg873ProPheSerTerUnk	COSM5186053	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81969276_81969277insT	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu875Val	rs1419564993	missense variant	-	NC_000001.11:g.81969289C>G	gnomAD
ADGRL2	O95490	p.Gln876His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81969294G>T	NCI-TCGA
ADGRL2	O95490	p.Gln876Arg	rs759301278	missense variant	-	NC_000001.11:g.81969293A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gln876His	rs1346197788	missense variant	-	NC_000001.11:g.81969294G>C	gnomAD
ADGRL2	O95490	p.Ser877Asn	rs377666964	missense variant	-	NC_000001.11:g.81969296G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg879Gln	rs373312947	missense variant	-	NC_000001.11:g.81969302G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn880Lys	COSM681956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81969306T>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr881Ala	rs762483041	missense variant	-	NC_000001.11:g.81969307A>G	ExAC,gnomAD
ADGRL2	O95490	p.His883Gln	rs752044178	missense variant	-	NC_000001.11:g.81969315C>G	ExAC,gnomAD
ADGRL2	O95490	p.Lys884Arg	rs536275045	missense variant	-	NC_000001.11:g.81969317A>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Leu886Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81969322C>T	NCI-TCGA
ADGRL2	O95490	p.Leu886His	rs1317322825	missense variant	-	NC_000001.11:g.81969323T>A	gnomAD
ADGRL2	O95490	p.Leu890Ile	rs1169454079	missense variant	-	NC_000001.11:g.81969334C>A	TOPMed
ADGRL2	O95490	p.Ile892Thr	rs750768047	missense variant	-	NC_000001.11:g.81969341T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe895Leu	rs756354341	missense variant	-	NC_000001.11:g.81969349T>C	ExAC,gnomAD
ADGRL2	O95490	p.Phe895Leu	rs1487959978	missense variant	-	NC_000001.11:g.81969351T>G	gnomAD
ADGRL2	O95490	p.Phe895Cys	rs1358926563	missense variant	-	NC_000001.11:g.81969350T>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ile896Val	rs147510948	missense variant	-	NC_000001.11:g.81969352A>G	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Phe897Ile	rs1185694970	missense variant	-	NC_000001.11:g.81969355T>A	TOPMed
ADGRL2	O95490	p.Leu898Pro	rs150031756	missense variant	-	NC_000001.11:g.81969359T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly900Asp	rs778847227	missense variant	-	NC_000001.11:g.81969365G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly900Val	rs778847227	missense variant	-	NC_000001.11:g.81969365G>T	ExAC,gnomAD
ADGRL2	O95490	p.Ile901Thr	rs770742407	missense variant	-	NC_000001.11:g.81969368T>C	ExAC,gnomAD
ADGRL2	O95490	p.Ile901Val	rs747034256	missense variant	-	NC_000001.11:g.81969367A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp902Glu	rs781181117	missense variant	-	NC_000001.11:g.81969372T>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala907Val	rs769598965	missense variant	-	NC_000001.11:g.81969386C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile908Met	rs201193024	missense variant	-	NC_000001.11:g.81970316T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile908Ser	rs781234266	missense variant	-	NC_000001.11:g.81970315T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ala909Val	rs374202661	missense variant	-	NC_000001.11:g.81970318C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile912Thr	rs1238007695	missense variant	-	NC_000001.11:g.81970327T>C	TOPMed
ADGRL2	O95490	p.Ile912Met	rs892772046	missense variant	-	NC_000001.11:g.81970328A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ala914Pro	rs1310241833	missense variant	-	NC_000001.11:g.81970332G>C	TOPMed
ADGRL2	O95490	p.Leu916Arg	COSM912488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81970339T>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.His918Gln	rs779978389	missense variant	-	NC_000001.11:g.81970346C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe919Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970347T>A	NCI-TCGA
ADGRL2	O95490	p.Phe919Val	rs749032614	missense variant	-	NC_000001.11:g.81970347T>G	ExAC,gnomAD
ADGRL2	O95490	p.Phe920Leu	rs1196410606	missense variant	-	NC_000001.11:g.81970350T>C	gnomAD
ADGRL2	O95490	p.Phe920Leu	rs768158713	missense variant	-	NC_000001.11:g.81970352C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe921Ile	rs368282486	missense variant	-	NC_000001.11:g.81970353T>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala923ValIleValLeuIleThrArgLysAsnThrGluThrTyrSerArgSerHisPheAspPhePhePheLeuAla	NCI-TCGA novel	insertion	-	NC_000001.11:g.81970344_81970345insACTTTTTCTTTTTGGCTGTCATTGTCTTAATCACAAGAAAGAATACTGAGACATATTCCAGAAGCCATTTTG	NCI-TCGA
ADGRL2	O95490	p.Ala923Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970359G>A	NCI-TCGA
ADGRL2	O95490	p.Ala924Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970363C>A	NCI-TCGA
ADGRL2	O95490	p.Ala924Thr	rs1376426873	missense variant	-	NC_000001.11:g.81970362G>A	gnomAD
ADGRL2	O95490	p.Ala924Val	COSM4010125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81970363C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ala926Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970369C>A	NCI-TCGA
ADGRL2	O95490	p.Ala926Val	rs1478022145	missense variant	-	NC_000001.11:g.81970369C>T	gnomAD
ADGRL2	O95490	p.Trp927Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970371T>C	NCI-TCGA
ADGRL2	O95490	p.Met928Ile	rs200872583	missense variant	-	NC_000001.11:g.81970376G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Cys929Phe	rs947047129	missense variant	-	NC_000001.11:g.81970378G>T	TOPMed
ADGRL2	O95490	p.Leu930Ile	rs557212148	missense variant	-	NC_000001.11:g.81970380C>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Gly932Cys	rs900691021	missense variant	-	NC_000001.11:g.81970386G>T	TOPMed
ADGRL2	O95490	p.Gln934Lys	rs776830974	missense variant	-	NC_000001.11:g.81970392C>A	ExAC,gnomAD
ADGRL2	O95490	p.Leu935Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970395C>T	NCI-TCGA
ADGRL2	O95490	p.Tyr936Cys	rs759850927	missense variant	-	NC_000001.11:g.81970399A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu937Ile	rs1172622480	missense variant	-	NC_000001.11:g.81970401C>A	TOPMed
ADGRL2	O95490	p.Glu941Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81970413G>T	NCI-TCGA
ADGRL2	O95490	p.Glu941Val	rs1325353849	missense variant	-	NC_000001.11:g.81970414A>T	gnomAD
ADGRL2	O95490	p.Val942Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970416G>A	NCI-TCGA
ADGRL2	O95490	p.Ser945Asn	rs1329256798	missense variant	-	NC_000001.11:g.81970426G>A	gnomAD
ADGRL2	O95490	p.Glu946Val	rs1476800075	missense variant	-	NC_000001.11:g.81970429A>T	TOPMed
ADGRL2	O95490	p.Arg949Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970438G>T	NCI-TCGA
ADGRL2	O95490	p.Arg949Lys	rs1446392973	missense variant	-	NC_000001.11:g.81970438G>A	TOPMed
ADGRL2	O95490	p.Lys950Glu	rs1214612771	missense variant	-	NC_000001.11:g.81970440A>G	TOPMed
ADGRL2	O95490	p.Lys950Thr	rs758484253	missense variant	-	NC_000001.11:g.81970441A>C	ExAC,gnomAD
ADGRL2	O95490	p.Lys951Thr	rs767572804	missense variant	-	NC_000001.11:g.81970444A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Lys951AsnPheSerTerUnkUnk	COSM5113861	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81970440A>-	NCI-TCGA Cosmic
ADGRL2	O95490	p.Tyr952Asn	rs1257035314	missense variant	-	NC_000001.11:g.81970446T>A	TOPMed,gnomAD
ADGRL2	O95490	p.Tyr952Cys	rs1468695720	missense variant	-	NC_000001.11:g.81970447A>G	gnomAD
ADGRL2	O95490	p.Tyr954Cys	rs750440366	missense variant	-	NC_000001.11:g.81970453A>G	ExAC,gnomAD
ADGRL2	O95490	p.Val955Ile	rs756113269	missense variant	-	NC_000001.11:g.81970455G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ala956Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970459C>T	NCI-TCGA
ADGRL2	O95490	p.Gly957Cys	rs1194558199	missense variant	-	NC_000001.11:g.81970461G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly957Asp	rs573957983	missense variant	-	NC_000001.11:g.81970462G>A	1000Genomes
ADGRL2	O95490	p.Phe960Leu	rs1170152459	missense variant	-	NC_000001.11:g.81970470T>C	gnomAD
ADGRL2	O95490	p.Val964Gly	rs1027918840	missense variant	-	NC_000001.11:g.81970483T>G	TOPMed
ADGRL2	O95490	p.Val965Ile	rs952372746	missense variant	-	NC_000001.11:g.81970485G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Gly966Val	rs1164753366	missense variant	-	NC_000001.11:g.81970489G>T	gnomAD
ADGRL2	O95490	p.Ala969Thr	rs1386101630	missense variant	-	NC_000001.11:g.81970497G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Ala970Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970501C>T	NCI-TCGA
ADGRL2	O95490	p.Ile971Thr	COSM1296729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81970504T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Tyr973Cys	rs770685951	missense variant	-	NC_000001.11:g.81970510A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Tyr973His	rs1276832768	missense variant	-	NC_000001.11:g.81970509T>C	TOPMed
ADGRL2	O95490	p.Ser975Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970516G>A	NCI-TCGA
ADGRL2	O95490	p.Tyr976Ter	COSM5132470	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81970520T>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly977Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81970522G>A	NCI-TCGA
ADGRL2	O95490	p.Thr978Ala	rs774188435	missense variant	-	NC_000001.11:g.81970524A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Glu979Gln	COSM681952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81970527G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Lys980Glu	rs374706361	missense variant	-	NC_000001.11:g.81970530A>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala981Thr	rs778365141	missense variant	-	NC_000001.11:g.81970533G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ala981Val	rs747709793	missense variant	-	NC_000001.11:g.81970534C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu984Val	rs1198882685	missense variant	-	NC_000001.11:g.81971859C>G	gnomAD
ADGRL2	O95490	p.His985Arg	rs752414849	missense variant	-	NC_000001.11:g.81971863A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His985Leu	rs752414849	missense variant	-	NC_000001.11:g.81971863A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp987Gly	rs1040253104	missense variant	-	NC_000001.11:g.81971869A>G	TOPMed
ADGRL2	O95490	p.Asn988Asp	rs1381986658	missense variant	-	NC_000001.11:g.81971871A>G	gnomAD
ADGRL2	O95490	p.Tyr989His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81971874T>C	NCI-TCGA
ADGRL2	O95490	p.Tyr989Cys	rs746474008	missense variant	-	NC_000001.11:g.81971875A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe990Ile	COSM3492816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81971877T>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ile991Met	rs771459250	missense variant	-	NC_000001.11:g.81971882A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser993Arg	rs781482782	missense variant	-	NC_000001.11:g.81971886A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe994Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81971890T>C	NCI-TCGA
ADGRL2	O95490	p.Ile995Leu	rs746256625	missense variant	-	NC_000001.11:g.81971892A>C	ExAC,gnomAD
ADGRL2	O95490	p.Ile995Thr	rs372672882	missense variant	-	NC_000001.11:g.81971893T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly996Val	rs762607724	missense variant	-	NC_000001.11:g.81971896G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly996Ala	rs762607724	missense variant	-	NC_000001.11:g.81971896G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr999Asn	rs377298321	missense variant	-	NC_000001.11:g.81971905C>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1003Val	rs768974699	missense variant	-	NC_000001.11:g.81971916C>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile1006Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81979877T>G	NCI-TCGA
ADGRL2	O95490	p.Ile1006Val	rs1172009560	missense variant	-	NC_000001.11:g.81979875A>G	TOPMed
ADGRL2	O95490	p.Ile1007Thr	rs1477082325	missense variant	-	NC_000001.11:g.81979879T>C	TOPMed
ADGRL2	O95490	p.Val1010Met	rs1379508714	missense variant	-	NC_000001.11:g.81979887G>A	TOPMed
ADGRL2	O95490	p.Thr1012Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81979894C>A	NCI-TCGA
ADGRL2	O95490	p.Leu1013Val	COSM4010137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81979896T>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Cys1014Phe	rs1200770011	missense variant	-	NC_000001.11:g.81979900G>T	TOPMed
ADGRL2	O95490	p.Met1016Val	rs372969366	missense variant	-	NC_000001.11:g.81979905A>G	ESP,gnomAD
ADGRL2	O95490	p.Met1016Ile	rs1197761617	missense variant	-	NC_000001.11:g.81979907G>A	gnomAD
ADGRL2	O95490	p.Lys1018Thr	rs756610656	missense variant	-	NC_000001.11:g.81979912A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Lys1018Arg	rs756610656	missense variant	-	NC_000001.11:g.81979912A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1021Lys	rs1189425590	missense variant	-	NC_000001.11:g.81979922C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Leu1023Ser	rs1164222419	missense variant	-	NC_000001.11:g.81979927T>C	gnomAD
ADGRL2	O95490	p.Leu1023Ter	COSM426736	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81979927T>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Pro1025Thr	rs558150601	missense variant	-	NC_000001.11:g.81979932C>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1025Leu	rs1346503031	missense variant	-	NC_000001.11:g.81979933C>T	TOPMed
ADGRL2	O95490	p.Ser1027Cys	rs1477866800	missense variant	-	NC_000001.11:g.81979939C>G	gnomAD
ADGRL2	O95490	p.Ser1028Thr	rs748369948	missense variant	-	NC_000001.11:g.81979942G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1029Gly	rs772113763	missense variant	-	NC_000001.11:g.81979944A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asn1032Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81979954A>G	NCI-TCGA
ADGRL2	O95490	p.Ile1033Val	rs759443053	missense variant	-	NC_000001.11:g.81979956A>G	ExAC,gnomAD
ADGRL2	O95490	p.Lys1034Arg	rs765173389	missense variant	-	NC_000001.11:g.81979960A>G	ExAC,gnomAD
ADGRL2	O95490	p.Trp1036Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81981812T>C	NCI-TCGA
ADGRL2	O95490	p.Trp1036Cys	rs1278333871	missense variant	-	NC_000001.11:g.81981814G>C	gnomAD
ADGRL2	O95490	p.Leu1038Ile	rs760143519	missense variant	-	NC_000001.11:g.81981818C>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly1039Arg	rs1216450318	missense variant	-	NC_000001.11:g.81981821G>C	gnomAD
ADGRL2	O95490	p.Ala1040Thr	rs1470284505	missense variant	-	NC_000001.11:g.81981824G>A	TOPMed
ADGRL2	O95490	p.Ala1040Ser	COSM6064174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981824G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ala1042Thr	rs373385024	missense variant	-	NC_000001.11:g.81981830G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1043Phe	rs751875235	missense variant	-	NC_000001.11:g.81981833C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1043Ile	rs751875235	missense variant	-	NC_000001.11:g.81981833C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1044SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81981833_81981834insT	NCI-TCGA
ADGRL2	O95490	p.Leu1044Val	rs757438572	missense variant	-	NC_000001.11:g.81981836C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1044Met	COSM1344487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981836C>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu1046Ile	rs541553847	missense variant	-	NC_000001.11:g.81981842C>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Leu1046Val	COSM681950	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981842C>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu1047Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81981846T>G	NCI-TCGA
ADGRL2	O95490	p.Leu1047His	COSM4010141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981846T>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu1049Pro	rs1476941074	missense variant	-	NC_000001.11:g.81981852T>C	TOPMed,gnomAD
ADGRL2	O95490	p.Trp1051Leu	rs745894208	missense variant	-	NC_000001.11:g.81981858G>T	ExAC,gnomAD
ADGRL2	O95490	p.Ser1052Phe	COSM141869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981861C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly1054Arg	rs1458223388	missense variant	-	NC_000001.11:g.81981866G>C	gnomAD
ADGRL2	O95490	p.Leu1056Phe	rs1388462679	missense variant	-	NC_000001.11:g.81981872C>T	gnomAD
ADGRL2	O95490	p.Ile1058Phe	rs778839893	missense variant	-	NC_000001.11:g.81981878A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1058Val	rs778839893	missense variant	-	NC_000001.11:g.81981878A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1059Ser	rs560086221	missense variant	-	NC_000001.11:g.81981882A>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Glu1060Gly	rs771971493	missense variant	-	NC_000001.11:g.81981885A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1062Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81981891C>T	NCI-TCGA
ADGRL2	O95490	p.Ile1063Val	rs1397691445	missense variant	-	NC_000001.11:g.81981893A>G	gnomAD
ADGRL2	O95490	p.Val1064Met	rs1294417972	missense variant	-	NC_000001.11:g.81981896G>A	gnomAD
ADGRL2	O95490	p.Met1065Val	rs1340494298	missense variant	-	NC_000001.11:g.81981899A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Met1065Thr	rs772856711	missense variant	-	NC_000001.11:g.81981900T>C	ExAC,gnomAD
ADGRL2	O95490	p.Ala1066Val	rs1282839612	missense variant	-	NC_000001.11:g.81981903C>T	gnomAD
ADGRL2	O95490	p.Ala1066Thr	rs574138761	missense variant	-	NC_000001.11:g.81981902G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Tyr1067Cys	rs770659493	missense variant	-	NC_000001.11:g.81981906A>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu1068Phe	COSM3419514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981908C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ile1071Val	rs576653196	missense variant	-	NC_000001.11:g.81981917A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala1074Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81981927C>A	NCI-TCGA
ADGRL2	O95490	p.Ala1074Val	rs765677337	missense variant	-	NC_000001.11:g.81981927C>T	ExAC,gnomAD
ADGRL2	O95490	p.Phe1075Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81981931C>A	NCI-TCGA
ADGRL2	O95490	p.Gln1076Ter	COSM3492831	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81981932C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly1077Arg	rs776121970	missense variant	-	NC_000001.11:g.81981935G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly1077Ala	COSM6064168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981936G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ile1080Val	rs763362240	missense variant	-	NC_000001.11:g.81981944A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1082Val	rs1425831703	missense variant	-	NC_000001.11:g.81981950A>G	gnomAD
ADGRL2	O95490	p.Phe1083Ile	rs1189323563	missense variant	-	NC_000001.11:g.81981953T>A	gnomAD
ADGRL2	O95490	p.Cys1085Tyr	rs1366531010	missense variant	-	NC_000001.11:g.81981960G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Ala1086Val	rs764559323	missense variant	-	NC_000001.11:g.81981963C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1087His	rs751844952	missense variant	-	NC_000001.11:g.81981966T>A	ExAC,gnomAD
ADGRL2	O95490	p.Lys1089Arg	rs1023662572	missense variant	-	NC_000001.11:g.81981972A>G	-
ADGRL2	O95490	p.Val1091Ile	rs550579592	missense variant	-	NC_000001.11:g.81984583G>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Arg1092Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81984586C>T	NCI-TCGA
ADGRL2	O95490	p.Arg1092Gln	rs767737569	missense variant	-	NC_000001.11:g.81984587G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1094Ter	COSM5810460	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81984592G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly1096Asp	rs750714643	missense variant	-	NC_000001.11:g.81984599G>A	ExAC,gnomAD
ADGRL2	O95490	p.Cys1098Phe	rs1447977515	missense variant	-	NC_000001.11:g.81984605G>T	gnomAD
ADGRL2	O95490	p.Cys1098Ser	COSM6127442	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81984605G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg1100Lys	rs756300847	missense variant	-	NC_000001.11:g.81984611G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His1101Arg	rs1391355702	missense variant	-	NC_000001.11:g.81984614A>G	gnomAD
ADGRL2	O95490	p.His1101Tyr	rs766534631	missense variant	-	NC_000001.11:g.81984613C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1102Leu	rs1262524010	missense variant	-	NC_000001.11:g.81984617C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly1106Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81984629G>T	NCI-TCGA
ADGRL2	O95490	p.Gly1106Glu	rs1302013318	missense variant	-	NC_000001.11:g.81984629G>A	gnomAD
ADGRL2	O95490	p.Gly1107Ser	rs1314040188	missense variant	-	NC_000001.11:g.81984631G>A	gnomAD
ADGRL2	O95490	p.Leu1108Val	rs1262749329	missense variant	-	NC_000001.11:g.81984634C>G	gnomAD
ADGRL2	O95490	p.Thr1110Ala	rs758393417	missense variant	-	NC_000001.11:g.81984640A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1111Ala	rs1199013556	missense variant	-	NC_000001.11:g.81984644A>C	gnomAD
ADGRL2	O95490	p.Ser1112Asn	rs1239818162	missense variant	-	NC_000001.11:g.81984647G>A	gnomAD
ADGRL2	O95490	p.Pro1113Leu	rs138480989	missense variant	-	NC_000001.11:g.81984650C>T	ESP,TOPMed,gnomAD
ADGRL2	O95490	p.His1114Gln	rs777505441	missense variant	-	NC_000001.11:g.81984654C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His1114Gln	rs777505441	missense variant	-	NC_000001.11:g.81984654C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1116Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81984659C>T	NCI-TCGA
ADGRL2	O95490	p.Thr1121Ala	rs1413631544	missense variant	-	NC_000001.11:g.81984673A>G	gnomAD
ADGRL2	O95490	p.Thr1122Ile	rs1200046628	missense variant	-	NC_000001.11:g.81984677C>T	TOPMed
ADGRL2	O95490	p.Thr1124Ser	rs745554138	missense variant	-	NC_000001.11:g.81984683C>G	ExAC,gnomAD
ADGRL2	O95490	p.Thr1124Ala	rs1360595913	missense variant	-	NC_000001.11:g.81984682A>G	gnomAD
ADGRL2	O95490	p.Arg1127Cys	rs775087345	missense variant	-	NC_000001.11:g.81984691C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg1127His	rs748702474	missense variant	-	NC_000001.11:g.81984692G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Tyr1128Ser	rs1385145668	missense variant	-	NC_000001.11:g.81984695A>C	TOPMed,gnomAD
ADGRL2	O95490	p.Ser1129Tyr	rs143415657	missense variant	-	NC_000001.11:g.81984698C>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1129Pro	COSM1344489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81984697T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser1130Cys	rs1341324062	missense variant	-	NC_000001.11:g.81984701C>G	gnomAD
ADGRL2	O95490	p.Gly1131Ala	rs866223450	missense variant	-	NC_000001.11:g.81984704G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Thr1132Ser	rs370572677	missense variant	-	NC_000001.11:g.81984706A>T	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Ser1134Arg	rs1215985236	missense variant	-	NC_000001.11:g.81985261T>G	TOPMed
ADGRL2	O95490	p.Ser1134Thr	rs1244228355	missense variant	-	NC_000001.11:g.81985260G>C	TOPMed
ADGRL2	O95490	p.Arg1135Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81985263G>C	NCI-TCGA
ADGRL2	O95490	p.Arg1135His	rs779502306	missense variant	-	NC_000001.11:g.81985263G>A	ExAC,gnomAD
ADGRL2	O95490	p.Arg1135Cys	rs1014195159	missense variant	-	NC_000001.11:g.81985262C>T	TOPMed
ADGRL2	O95490	p.Arg1138Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81985272G>A	NCI-TCGA
ADGRL2	O95490	p.Arg1138Ile	rs1220194544	missense variant	-	NC_000001.11:g.81985272G>T	gnomAD
ADGRL2	O95490	p.Asp1142Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81985283G>A	NCI-TCGA
ADGRL2	O95490	p.Asp1142Tyr	COSM275886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81985283G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Val1144Met	COSM5100851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81985289G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser1148Leu	rs1488334868	missense variant	-	NC_000001.11:g.81985302C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Ser1151Tyr	rs1485370132	missense variant	-	NC_000001.11:g.81985311C>A	gnomAD
ADGRL2	O95490	p.Ser1151Phe	rs1485370132	missense variant	-	NC_000001.11:g.81985311C>T	gnomAD
ADGRL2	O95490	p.Phe1152Val	rs868449264	missense variant	-	NC_000001.11:g.81985313T>G	TOPMed,gnomAD
ADGRL2	O95490	p.Gly1155Ser	rs1363767412	missense variant	-	NC_000001.11:g.81985322G>A	TOPMed
ADGRL2	O95490	p.Asp1156Ala	rs150658580	missense variant	-	NC_000001.11:g.81985326A>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1158Ser	rs772523265	missense variant	-	NC_000001.11:g.81985332A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ser1159Asn	rs752470806	missense variant	-	NC_000001.11:g.81985335G>A	gnomAD
ADGRL2	O95490	p.Ser1161Ter	COSM414776	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81985341C>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Thr1162Pro	rs760883063	missense variant	-	NC_000001.11:g.81985343A>C	ExAC,gnomAD
ADGRL2	O95490	p.Leu1163Phe	rs771198606	missense variant	-	NC_000001.11:g.81985346C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1163Val	rs771198606	missense variant	-	NC_000001.11:g.81985346C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1164Ser	rs776777925	missense variant	-	NC_000001.11:g.81985350A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gln1165Lys	COSM5146686	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81985352C>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly1166Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81985355G>A	NCI-TCGA
ADGRL2	O95490	p.Met1167Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81986905G>A	NCI-TCGA
ADGRL2	O95490	p.Met1167Ile	rs560996903	missense variant	-	NC_000001.11:g.81986905G>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Met1167Thr	rs763056264	missense variant	-	NC_000001.11:g.81986904T>C	ExAC,gnomAD
ADGRL2	O95490	p.Thr1168Ser	rs1469522783	missense variant	-	NC_000001.11:g.81986906A>T	gnomAD
ADGRL2	O95490	p.Gly1169Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81986910G>T	NCI-TCGA
ADGRL2	O95490	p.Gly1169Ala	rs1175399844	missense variant	-	NC_000001.11:g.81986910G>C	gnomAD
ADGRL2	O95490	p.Asn1170Ser	rs375625734	missense variant	-	NC_000001.11:g.81986913A>G	ESP,ExAC
ADGRL2	O95490	p.Leu1173Pro	rs1238678092	missense variant	-	NC_000001.11:g.81986922T>C	TOPMed
ADGRL2	O95490	p.Thr1174Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81986924A>G	NCI-TCGA
ADGRL2	O95490	p.Asn1175Ser	rs766139223	missense variant	-	NC_000001.11:g.81986928A>G	ExAC
ADGRL2	O95490	p.Pro1176Thr	rs753623324	missense variant	-	NC_000001.11:g.81986930C>A	ExAC,gnomAD
ADGRL2	O95490	p.Leu1177Ile	rs899223963	missense variant	-	NC_000001.11:g.81986933C>A	TOPMed
ADGRL2	O95490	p.Arg1179Ter	rs754660598	stop gained	-	NC_000001.11:g.81986939C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg1179Gln	rs764807610	missense variant	-	NC_000001.11:g.81986940G>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro1180Thr	rs752216664	missense variant	-	NC_000001.11:g.81986942C>A	ExAC
ADGRL2	O95490	p.His1181Leu	rs1343219457	missense variant	-	NC_000001.11:g.81986946A>T	TOPMed,gnomAD
ADGRL2	O95490	p.His1181Arg	rs1343219457	missense variant	-	NC_000001.11:g.81986946A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Thr1183Ala	rs777333460	missense variant	-	NC_000001.11:g.81986951A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asn1184Ser	COSM5079880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81986955A>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Pro1186His	rs1341916395	missense variant	-	NC_000001.11:g.81986961C>A	gnomAD
ADGRL2	O95490	p.Ala1192Thr	rs781431355	missense variant	-	NC_000001.11:g.81986978G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala1192Ser	rs781431355	missense variant	-	NC_000001.11:g.81986978G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1194Ala	rs1260429946	missense variant	-	NC_000001.11:g.81986984A>G	TOPMed
ADGRL2	O95490	p.Thr1194Ile	rs1452747238	missense variant	-	NC_000001.11:g.81986985C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Val1196Leu	rs1373580693	missense variant	-	NC_000001.11:g.81986990G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Asn1198Ser	rs188777224	missense variant	-	NC_000001.11:g.81986997A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala1199Asp	rs770144606	missense variant	-	NC_000001.11:g.81987000C>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser1201Leu	rs775792286	missense variant	-	NC_000001.11:g.81987006C>T	ExAC,gnomAD
ADGRL2	O95490	p.Ala1202ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.81987006_81987025CAGCTCCTGTATTTAACTCA>-	NCI-TCGA
ADGRL2	O95490	p.Ala1202Pro	rs749505051	missense variant	-	NC_000001.11:g.81987008G>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro1203Ser	COSM1584714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81987011C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Val1204Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81987015T>C	NCI-TCGA
ADGRL2	O95490	p.Val1204Leu	rs763740090	missense variant	-	NC_000001.11:g.81987014G>C	gnomAD
ADGRL2	O95490	p.Val1204Leu	rs763740090	missense variant	-	NC_000001.11:g.81987014G>T	gnomAD
ADGRL2	O95490	p.Asn1206His	rs546241850	missense variant	-	NC_000001.11:g.81987020A>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asn1206Lys	rs1304389661	missense variant	-	NC_000001.11:g.81987022C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Pro1208Gln	rs746400400	missense variant	-	NC_000001.11:g.81987027C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1208Ser	rs1383781167	missense variant	-	NC_000001.11:g.81987026C>T	TOPMed
ADGRL2	O95490	p.Gly1209Glu	rs969053627	missense variant	-	NC_000001.11:g.81990391G>A	-
ADGRL2	O95490	p.Ser1211Pro	COSM6064164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990396T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu1212Pro	rs1183018579	missense variant	-	NC_000001.11:g.81990400T>C	gnomAD
ADGRL2	O95490	p.Ala1215Thr	COSM912496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990408G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg1216Gly	rs200393771	missense variant	-	NC_000001.11:g.81990411A>G	1000Genomes
ADGRL2	O95490	p.Arg1216Lys	rs1402606615	missense variant	-	NC_000001.11:g.81990412G>A	gnomAD
ADGRL2	O95490	p.Arg1216Met	rs1402606615	missense variant	-	NC_000001.11:g.81990412G>T	gnomAD
ADGRL2	O95490	p.Arg1216Ser	rs764231254	missense variant	-	NC_000001.11:g.81990413G>T	ExAC,gnomAD
ADGRL2	O95490	p.Asp1217Glu	rs1344897848	missense variant	-	NC_000001.11:g.81990416T>G	gnomAD
ADGRL2	O95490	p.Asp1217Asn	COSM3805956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990414G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ala1220Pro	rs72719419	missense variant	-	NC_000001.11:g.81990423G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala1220Gly	COSM5080092	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990424C>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Met1221Val	rs749286701	missense variant	-	NC_000001.11:g.81990426A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp1222Asn	rs754847382	missense variant	-	NC_000001.11:g.81990429G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1222Tyr	rs754847382	missense variant	-	NC_000001.11:g.81990429G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1223Ile	rs778788827	missense variant	-	NC_000001.11:g.81990433C>T	ExAC,gnomAD
ADGRL2	O95490	p.Leu1224Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990436T>G	NCI-TCGA
ADGRL2	O95490	p.Pro1225Leu	rs143139172	missense variant	-	NC_000001.11:g.81990439C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1226Ile	rs746655027	missense variant	-	NC_000001.11:g.81990441C>A	ExAC,gnomAD
ADGRL2	O95490	p.Asn1227Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990446T>G	NCI-TCGA
ADGRL2	O95490	p.Gly1228Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990448G>T	NCI-TCGA
ADGRL2	O95490	p.Asn1232Asp	rs1204682680	missense variant	-	NC_000001.11:g.81990459A>G	gnomAD
ADGRL2	O95490	p.Ser1233Asn	rs765624220	missense variant	-	NC_000001.11:g.81990463G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser1233Gly	rs760114423	missense variant	-	NC_000001.11:g.81990462A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1235Leu	rs779274576	missense variant	-	NC_000001.11:g.81990469C>T	ExAC,gnomAD
ADGRL2	O95490	p.Lys1238Arg	rs764425371	missense variant	-	NC_000001.11:g.81990478A>G	ExAC,gnomAD
ADGRL2	O95490	p.Lys1238Asn	rs372665040	missense variant	-	NC_000001.11:g.81990479G>C	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Gly1239Val	rs143448377	missense variant	-	NC_000001.11:g.81990481G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1240Asn	rs1234663194	missense variant	-	NC_000001.11:g.81990483G>A	TOPMed
ADGRL2	O95490	p.Tyr1241Cys	rs1205396115	missense variant	-	NC_000001.11:g.81990487A>G	TOPMed
ADGRL2	O95490	p.Asn1242Ser	rs1333422337	missense variant	-	NC_000001.11:g.81990490A>G	gnomAD
ADGRL2	O95490	p.Asp1243Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990493A>G	NCI-TCGA
ADGRL2	O95490	p.Asp1243Glu	rs750420668	missense variant	-	NC_000001.11:g.81990494C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1243Glu	rs750420668	missense variant	-	NC_000001.11:g.81990494C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1244Asn	rs1006870973	missense variant	-	NC_000001.11:g.81990496G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Val1245Met	rs138336807	missense variant	-	NC_000001.11:g.81990498G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln1246Pro	COSM464986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990502A>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Val1248Ala	rs1389306587	missense variant	-	NC_000001.11:g.81990508T>C	TOPMed
ADGRL2	O95490	p.Val1248Met	rs758334969	missense variant	-	NC_000001.11:g.81990507G>A	ExAC,gnomAD
ADGRL2	O95490	p.Cys1250Arg	rs563957003	missense variant	-	NC_000001.11:g.81990513T>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Leu1252Pro	rs371147332	missense variant	-	NC_000001.11:g.81990520T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1253Thr	rs1023460050	missense variant	-	NC_000001.11:g.81990523G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Leu1254Met	rs144340670	missense variant	-	NC_000001.11:g.81990525C>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1255Ser	rs780787341	missense variant	-	NC_000001.11:g.81990529A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp1256Ala	rs745306062	missense variant	-	NC_000001.11:g.81990532A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1257Asn	rs770344370	missense variant	-	NC_000001.11:g.81990535C>A	ExAC,gnomAD
ADGRL2	O95490	p.Phe1259Leu	rs775916129	missense variant	-	NC_000001.11:g.81990542T>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1260Asp	rs1479324481	missense variant	-	NC_000001.11:g.81990545G>T	gnomAD
ADGRL2	O95490	p.Ile1263Met	rs1326228260	missense variant	-	NC_000001.11:g.81990554C>G	gnomAD
ADGRL2	O95490	p.Ile1263Phe	rs769048815	missense variant	-	NC_000001.11:g.81990552A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1263Val	rs769048815	missense variant	-	NC_000001.11:g.81990552A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1263Asn	rs774675797	missense variant	-	NC_000001.11:g.81990553T>A	ExAC,gnomAD
ADGRL2	O95490	p.His1269Gln	rs1405109044	missense variant	-	NC_000001.11:g.81990572C>G	gnomAD
ADGRL2	O95490	p.Asn1270Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990574A>T	NCI-TCGA
ADGRL2	O95490	p.Asn1270Lys	rs1232962173	missense variant	-	NC_000001.11:g.81990575C>A	TOPMed,gnomAD
ADGRL2	O95490	p.Asn1270Ser	rs767592229	missense variant	-	NC_000001.11:g.81990574A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1270Asp	rs762043588	missense variant	-	NC_000001.11:g.81990573A>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu1272Phe	rs1258495502	missense variant	-	NC_000001.11:g.81990581A>C	TOPMed,gnomAD
ADGRL2	O95490	p.Leu1272Phe	rs1258495502	missense variant	-	NC_000001.11:g.81990581A>T	TOPMed,gnomAD
ADGRL2	O95490	p.Arg1273Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990582C>G	NCI-TCGA
ADGRL2	O95490	p.Arg1273Trp	rs748402076	missense variant	-	NC_000001.11:g.81990582C>T	gnomAD
ADGRL2	O95490	p.Arg1273Gln	rs760725709	missense variant	-	NC_000001.11:g.81990583G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1275Thr	rs766477471	missense variant	-	NC_000001.11:g.81990589G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1275Asn	rs766477471	missense variant	-	NC_000001.11:g.81990589G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1276Asn	rs200002945	missense variant	-	NC_000001.11:g.81990592G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1276Gly	COSM4898702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990591A>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Lys1277Gln	rs141518056	missense variant	-	NC_000001.11:g.81990594A>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1278Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990597A>T	NCI-TCGA
ADGRL2	O95490	p.His1279Tyr	rs1490258060	missense variant	-	NC_000001.11:g.81990600C>T	TOPMed,gnomAD
ADGRL2	O95490	p.His1279Asn	rs1490258060	missense variant	-	NC_000001.11:g.81990600C>A	TOPMed,gnomAD
ADGRL2	O95490	p.Asn1280Ser	rs751362791	missense variant	-	NC_000001.11:g.81990604A>G	ExAC,gnomAD
ADGRL2	O95490	p.Glu1282Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990611G>T	NCI-TCGA
ADGRL2	O95490	p.Glu1282Lys	rs199665935	missense variant	-	NC_000001.11:g.81990609G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1283Pro	rs1166094225	missense variant	-	NC_000001.11:g.81990613T>C	TOPMed,gnomAD
ADGRL2	O95490	p.Thr1284Arg	rs543214214	missense variant	-	NC_000001.11:g.81990616C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1284Met	rs543214214	missense variant	-	NC_000001.11:g.81990616C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1285Val	rs779581570	missense variant	-	NC_000001.11:g.81990618C>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu1285Pro	rs769101989	missense variant	-	NC_000001.11:g.81990619T>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro1286Leu	rs774727340	missense variant	-	NC_000001.11:g.81990622C>T	ExAC,gnomAD
ADGRL2	O95490	p.Val1287Gly	rs772473565	missense variant	-	NC_000001.11:g.81990625T>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val1287Ile	rs146536254	missense variant	-	NC_000001.11:g.81990624G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1289Ser	rs755347765	missense variant	-	NC_000001.11:g.81990630C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1289His	rs760920783	missense variant	-	NC_000001.11:g.81990631C>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile1291Thr	rs1360850462	missense variant	-	NC_000001.11:g.81990637T>C	gnomAD
ADGRL2	O95490	p.Gly1292Arg	rs781779072	missense variant	-	NC_000001.11:g.81990639G>A	TOPMed
ADGRL2	O95490	p.Gly1293Asp	rs1248221552	missense variant	-	NC_000001.11:g.81990643G>A	gnomAD
ADGRL2	O95490	p.Ser1295Gly	rs146227933	missense variant	-	NC_000001.11:g.81990648A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1296Arg	rs763017818	missense variant	-	NC_000001.11:g.81990651A>C	ExAC,gnomAD
ADGRL2	O95490	p.Asp1298Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990657G>T	NCI-TCGA
ADGRL2	O95490	p.Asp1298Asn	rs200383050	missense variant	-	NC_000001.11:g.81990657G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1299Gly	rs757054945	missense variant	-	NC_000001.11:g.81990661A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1299Asn	rs751411562	missense variant	-	NC_000001.11:g.81990660G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ala1300Asp	rs1374001060	missense variant	-	NC_000001.11:g.81990664C>A	gnomAD
ADGRL2	O95490	p.Ile1301Phe	rs372364797	missense variant	-	NC_000001.11:g.81990666A>T	ExAC,gnomAD
ADGRL2	O95490	p.Ile1301Thr	rs779451501	missense variant	-	NC_000001.11:g.81990667T>C	ExAC,gnomAD
ADGRL2	O95490	p.Ile1301Val	rs372364797	missense variant	-	NC_000001.11:g.81990666A>G	ExAC,gnomAD
ADGRL2	O95490	p.Val1302Met	rs748755054	missense variant	-	NC_000001.11:g.81990669G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ala1303Thr	rs1457035805	missense variant	-	NC_000001.11:g.81990672G>A	gnomAD
ADGRL2	O95490	p.Asp1304His	rs779456032	missense variant	-	NC_000001.11:g.81990675G>C	ExAC,gnomAD
ADGRL2	O95490	p.Asp1304Glu	rs539592390	missense variant	-	NC_000001.11:g.81990677T>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ala1305Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990679C>A	NCI-TCGA
ADGRL2	O95490	p.Met1309Thr	rs772363344	missense variant	-	NC_000001.11:g.81990691T>C	ExAC,gnomAD
ADGRL2	O95490	p.Met1309Arg	rs772363344	missense variant	-	NC_000001.11:g.81990691T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ser1311Asn	rs139191087	missense variant	-	NC_000001.11:g.81990697G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1312Asn	rs200831885	missense variant	-	NC_000001.11:g.81990699G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1312Tyr	rs200831885	missense variant	-	NC_000001.11:g.81990699G>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1313LysPheSerTerUnkUnk	COSM5101815	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81990701_81990702insA	NCI-TCGA Cosmic
ADGRL2	O95490	p.Pro1314Thr	rs759634154	missense variant	-	NC_000001.11:g.81990705C>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro1314Arg	rs146977928	missense variant	-	NC_000001.11:g.81990706C>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1316Gln	rs1039719171	missense variant	-	NC_000001.11:g.81990712T>A	gnomAD
ADGRL2	O95490	p.Leu1318Phe	rs1206554960	missense variant	-	NC_000001.11:g.81990717C>T	gnomAD
ADGRL2	O95490	p.His1319Gln	rs774493758	missense variant	-	NC_000001.11:g.81990722T>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His1319Arg	rs1461667253	missense variant	-	NC_000001.11:g.81990721A>G	gnomAD
ADGRL2	O95490	p.His1319Tyr	COSM3492852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990720C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Glu1322Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81990729G>T	NCI-TCGA
ADGRL2	O95490	p.Glu1324Lys	rs149473672	missense variant	-	NC_000001.11:g.81990735G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1326Leu	rs767261031	missense variant	-	NC_000001.11:g.81990742C>T	ExAC,gnomAD
ADGRL2	O95490	p.Leu1327Arg	rs572100788	missense variant	-	NC_000001.11:g.81990745T>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Leu1327Val	rs368144102	missense variant	-	NC_000001.11:g.81990744C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1328Thr	rs148181687	missense variant	-	NC_000001.11:g.81990748T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1329Ser	rs1407320434	missense variant	-	NC_000001.11:g.81990750C>T	gnomAD
ADGRL2	O95490	p.Pro1329Leu	rs753357765	missense variant	-	NC_000001.11:g.81990751C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg1331Trp	rs754550411	missense variant	-	NC_000001.11:g.81990756C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1331Gln	rs748651558	missense variant	-	NC_000001.11:g.81990757G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1332Ala	rs1392017771	missense variant	-	NC_000001.11:g.81990759A>G	gnomAD
ADGRL2	O95490	p.Thr1332Ile	rs908772575	missense variant	-	NC_000001.11:g.81990760C>T	TOPMed
ADGRL2	O95490	p.Ser1334Cys	rs758893309	missense variant	-	NC_000001.11:g.81990766C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1334Phe	rs758893309	missense variant	-	NC_000001.11:g.81990766C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1334Tyr	rs758893309	missense variant	-	NC_000001.11:g.81990766C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1336Val	COSM3985242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990771C>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gln1338Ter	rs181422749	stop gained	-	NC_000001.11:g.81990777C>T	1000Genomes
ADGRL2	O95490	p.Gln1340Leu	rs1287413848	missense variant	-	NC_000001.11:g.81990784A>T	TOPMed,gnomAD
ADGRL2	O95490	p.Lys1342Thr	rs1470354879	missense variant	-	NC_000001.11:g.81990790A>C	TOPMed
ADGRL2	O95490	p.Val1343Leu	COSM4010152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990792G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser1345Thr	rs144339910	missense variant	-	NC_000001.11:g.81990798T>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Glu1346Lys	rs148763084	missense variant	-	NC_000001.11:g.81990801G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly1347Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.81990804G>T	NCI-TCGA
ADGRL2	O95490	p.Gly1347Arg	rs761678542	missense variant	-	NC_000001.11:g.81990804G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly1347Glu	rs767448584	missense variant	-	NC_000001.11:g.81990805G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asp1349His	COSM414774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990810G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Tyr1351Cys	rs74098542	missense variant	-	NC_000001.11:g.81990817A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1353Pro	rs1181019610	missense variant	-	NC_000001.11:g.81990822T>C	gnomAD
ADGRL2	O95490	p.Leu1355Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990828C>A	NCI-TCGA
ADGRL2	O95490	p.Thr1356Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990832C>G	NCI-TCGA
ADGRL2	O95490	p.Thr1356Ile	rs370132224	missense variant	-	NC_000001.11:g.81990832C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1358Asp	rs1052237300	missense variant	-	NC_000001.11:g.81990839G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Glu1358Gly	rs753531368	missense variant	-	NC_000001.11:g.81990838A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ala1359Ser	rs759167525	missense variant	-	NC_000001.11:g.81990840G>T	ExAC,gnomAD
ADGRL2	O95490	p.Asp1361Glu	rs752214205	missense variant	-	NC_000001.11:g.81990848T>A	ExAC
ADGRL2	O95490	p.Leu1363Arg	rs758837991	missense variant	-	NC_000001.11:g.81990853T>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1363Pro	rs758837991	missense variant	-	NC_000001.11:g.81990853T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1363Ile	COSM912502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990852C>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gln1364Glu	rs1394425538	missense variant	-	NC_000001.11:g.81990855C>G	gnomAD
ADGRL2	O95490	p.Gln1364Arg	rs1409358853	missense variant	-	NC_000001.11:g.81990856A>G	gnomAD
ADGRL2	O95490	p.Ser1365Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990858T>C	NCI-TCGA
ADGRL2	O95490	p.Asn1367Ile	rs751999103	missense variant	-	NC_000001.11:g.81990865A>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg1368Lys	rs1347671592	missense variant	-	NC_000001.11:g.81990868G>A	gnomAD
ADGRL2	O95490	p.Asp1369Glu	rs374881882	missense variant	-	NC_000001.11:g.81990872C>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1369Gly	rs879518049	missense variant	-	NC_000001.11:g.81990871A>G	gnomAD
ADGRL2	O95490	p.Ser1370Phe	rs746137263	missense variant	-	NC_000001.11:g.81990874C>T	ExAC,gnomAD
ADGRL2	O95490	p.Ser1370Cys	rs746137263	missense variant	-	NC_000001.11:g.81990874C>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu1371Val	rs1252489574	missense variant	-	NC_000001.11:g.81990876C>G	gnomAD
ADGRL2	O95490	p.Tyr1372Phe	COSM6064161	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990880A>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser1374Arg	COSM4010155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990885A>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Met1375Ile	rs1314069626	missense variant	-	NC_000001.11:g.81990890G>A	TOPMed
ADGRL2	O95490	p.Pro1376Ser	rs200003266	missense variant	-	NC_000001.11:g.81990891C>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asn1377Ser	rs1490750593	missense variant	-	NC_000001.11:g.81990895A>G	gnomAD
ADGRL2	O95490	p.Asn1377Asp	rs1269130766	missense variant	-	NC_000001.11:g.81990894A>G	gnomAD
ADGRL2	O95490	p.Asn1377Lys	COSM5146690	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990896T>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Leu1378Arg	COSM1256642	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990898T>G	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg1379Lys	rs41292984	missense variant	-	NC_000001.11:g.81990901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1380His	rs760499936	missense variant	-	NC_000001.11:g.81990903G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1380Gly	rs1166288878	missense variant	-	NC_000001.11:g.81990904A>G	TOPMed
ADGRL2	O95490	p.Ser1381Phe	rs1374192500	missense variant	-	NC_000001.11:g.81990907C>T	TOPMed
ADGRL2	O95490	p.Ser1381Pro	rs1463977902	missense variant	-	NC_000001.11:g.81990906T>C	TOPMed
ADGRL2	O95490	p.Tyr1383His	rs1388921735	missense variant	-	NC_000001.11:g.81990912T>C	gnomAD
ADGRL2	O95490	p.Pro1384Leu	rs560319132	missense variant	-	NC_000001.11:g.81990916C>T	ExAC,gnomAD
ADGRL2	O95490	p.Pro1384Ala	rs142267708	missense variant	-	NC_000001.11:g.81990915C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1385Gln	rs372358222	missense variant	-	NC_000001.11:g.81990918G>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1386Arg	rs116188578	missense variant	-	NC_000001.11:g.81990923C>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Met1390Arg	rs763504983	missense variant	-	NC_000001.11:g.81990934T>G	ExAC,gnomAD
ADGRL2	O95490	p.Glu1391Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990936G>A	NCI-TCGA
ADGRL2	O95490	p.Asp1393Asn	COSM282470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990942G>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser1395Cys	rs1297625055	missense variant	-	NC_000001.11:g.81990949C>G	gnomAD
ADGRL2	O95490	p.Pro1396Ser	COSM3492860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990951C>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Ser1397Pro	COSM4010161	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990954T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg1398Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990957A>T	NCI-TCGA
ADGRL2	O95490	p.Arg1398Lys	rs375600667	missense variant	-	NC_000001.11:g.81990958G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1398Ser	COSM1561053	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990959G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Arg1399Gly	rs372620044	missense variant	-	NC_000001.11:g.81990960A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1399Ser	rs1377405426	missense variant	-	NC_000001.11:g.81990962G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Arg1399Thr	COSM1344495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990961G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Glu1401Asp	rs368321332	missense variant	-	NC_000001.11:g.81990968G>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1402Lys	rs1339968109	missense variant	-	NC_000001.11:g.81990971T>G	TOPMed
ADGRL2	O95490	p.Asp1404Glu	rs933954488	missense variant	-	NC_000001.11:g.81990977C>A	TOPMed
ADGRL2	O95490	p.Ile1405Leu	rs780263616	missense variant	-	NC_000001.11:g.81990978A>C	ExAC,gnomAD
ADGRL2	O95490	p.Tyr1406Phe	rs749455861	missense variant	-	NC_000001.11:g.81990982A>T	ExAC,gnomAD
ADGRL2	O95490	p.Tyr1406His	COSM5137869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990981T>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Tyr1407Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81990985A>G	NCI-TCGA
ADGRL2	O95490	p.Lys1408Gln	rs1246694594	missense variant	-	NC_000001.11:g.81990987A>C	gnomAD
ADGRL2	O95490	p.Ser1409Ile	COSM1344497	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990991G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Met1410Leu	rs768822485	missense variant	-	NC_000001.11:g.81990993A>T	ExAC,gnomAD
ADGRL2	O95490	p.Pro1411Ser	rs778837358	missense variant	-	NC_000001.11:g.81990996C>T	ExAC,gnomAD
ADGRL2	O95490	p.Leu1413Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81991002C>A	NCI-TCGA
ADGRL2	O95490	p.Leu1413Pro	rs1403746832	missense variant	-	NC_000001.11:g.81991003T>C	gnomAD
ADGRL2	O95490	p.Leu1413Val	rs1387173688	missense variant	-	NC_000001.11:g.81991002C>G	gnomAD
ADGRL2	O95490	p.Ala1415Ser	rs770815631	missense variant	-	NC_000001.11:g.81991008G>T	ExAC,gnomAD
ADGRL2	O95490	p.His1417Tyr	rs1454103691	missense variant	-	NC_000001.11:g.81991014C>T	gnomAD
ADGRL2	O95490	p.Leu1419Phe	rs917573208	missense variant	-	NC_000001.11:g.81991020C>T	TOPMed
ADGRL2	O95490	p.Met1421Leu	rs1362896321	missense variant	-	NC_000001.11:g.81991026A>C	TOPMed,gnomAD
ADGRL2	O95490	p.Tyr1423His	rs200071320	missense variant	-	NC_000001.11:g.81991032T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1425Val	rs762479828	missense variant	-	NC_000001.11:g.81991038A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gly1428Ser	rs1449010869	missense variant	-	NC_000001.11:g.81991047G>A	TOPMed
ADGRL2	O95490	p.Gly1428Cys	COSM6064152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81991047G>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asn1429Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81991051A>G	NCI-TCGA
ADGRL2	O95490	p.Ser1430Asn	rs763706882	missense variant	-	NC_000001.11:g.81991054G>A	ExAC,TOPMed
ADGRL2	O95490	p.Asp1431Asn	rs773682494	missense variant	-	NC_000001.11:g.81991056G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1431Tyr	rs773682494	missense variant	-	NC_000001.11:g.81991056G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly1432Val	rs1317184327	missense variant	-	NC_000001.11:g.81991060G>T	gnomAD
ADGRL2	O95490	p.Ile1434Val	rs746832360	missense variant	-	NC_000001.11:g.81991065A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ile1434Leu	COSM6064148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81991065A>T	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asn1438Thr	rs750830777	missense variant	-	NC_000001.11:g.81991078A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1440Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81991085A>T	NCI-TCGA
ADGRL2	O95490	p.Glu1440Gly	rs1181409915	missense variant	-	NC_000001.11:g.81991084A>G	gnomAD
ADGRL2	O95490	p.Gly1441Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81991087G>A	NCI-TCGA
ADGRL2	O95490	p.Gly1441Arg	rs766646868	missense variant	-	NC_000001.11:g.81991086G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly1441Trp	rs766646868	missense variant	-	NC_000001.11:g.81991086G>T	ExAC,gnomAD
ADGRL2	O95490	p.Gly1441Val	rs1421142641	missense variant	-	NC_000001.11:g.81991087G>T	gnomAD
ADGRL2	O95490	p.Ile1443Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81991093T>A	NCI-TCGA
ADGRL2	O95490	p.Pro1444Ser	rs754139691	missense variant	-	NC_000001.11:g.81991095C>T	ExAC,gnomAD
ADGRL2	O95490	p.Pro1444Thr	COSM426740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81991095C>A	NCI-TCGA Cosmic
ADGRL2	O95490	p.Gly1446Val	rs1337295727	missense variant	-	NC_000001.11:g.81991102G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly1446Arg	rs1456580569	missense variant	-	NC_000001.11:g.81991101G>A	gnomAD
ADGRL2	O95490	p.Gly1446Ala	COSM1296731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81991102G>C	NCI-TCGA Cosmic
ADGRL2	O95490	p.Asp1447Asn	rs779081104	missense variant	-	NC_000001.11:g.81991104G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asp1447Gly	rs748160288	missense variant	-	NC_000001.11:g.81991105A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1449Ser	rs757203865	missense variant	-	NC_000001.11:g.81991112A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1450Gly	rs781166318	missense variant	-	NC_000001.11:g.81991114A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gly1451Ala	rs745804070	missense variant	-	NC_000001.11:g.81991117G>C	ExAC,gnomAD
ADGRL2	O95490	p.Met1453Arg	rs775122775	missense variant	-	NC_000001.11:g.81991123T>G	ExAC,gnomAD
ADGRL2	O95490	p.Met1453Ile	rs936426168	missense variant	-	NC_000001.11:g.81991124G>A	TOPMed
ADGRL2	O95490	p.Gln1454Glu	rs1183284624	missense variant	-	NC_000001.11:g.81991125C>G	TOPMed
ADGRL2	O95490	p.Gln1454His	rs1437932644	missense variant	-	NC_000001.11:g.81991127G>T	TOPMed
ADGRL2	O95490	p.Val1456Ala	rs1441236243	missense variant	-	NC_000001.11:g.81991132T>C	gnomAD
ADGRL2	O95490	p.Val1456Ile	rs748987684	missense variant	-	NC_000001.11:g.81991131G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser1458Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81991137A>G	NCI-TCGA
ADGRL2	O95490	p.Ser1458Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81991139T>A	NCI-TCGA
ADGRL2	O95490	p.Leu1459His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.81991141T>A	NCI-TCGA
ADGRL2	O95490	p.Val2Leu	rs766277937	missense variant	-	NC_000001.11:g.81836988G>T	ExAC,gnomAD
ADGRL2	O95490	p.Ser3Phe	rs148990237	missense variant	-	NC_000001.11:g.81836992C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met8Lys	rs141876075	missense variant	-	NC_000001.11:g.81837007T>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg9Gln	rs138982442	missense variant	-	NC_000001.11:g.81837010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg9Gly	rs909612501	missense variant	-	NC_000001.11:g.81837009C>G	gnomAD
ADGRL2	O95490	p.Leu11Val	rs774269659	missense variant	-	NC_000001.11:g.81837015C>G	ExAC,gnomAD
ADGRL2	O95490	p.Trp12Cys	rs777411293	missense variant	-	NC_000001.11:g.81837020G>T	ExAC
ADGRL2	O95490	p.Ile14Leu	rs746491038	missense variant	-	NC_000001.11:g.81837024A>C	ExAC,gnomAD
ADGRL2	O95490	p.Ile14Val	rs746491038	missense variant	-	NC_000001.11:g.81837024A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile15Thr	rs777246913	missense variant	-	NC_000001.11:g.81837028T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile15Val	rs771616121	missense variant	-	NC_000001.11:g.81837027A>G	ExAC,gnomAD
ADGRL2	O95490	p.Val16Ala	rs1338055049	missense variant	-	NC_000001.11:g.81837031T>C	gnomAD
ADGRL2	O95490	p.Val16Ile	rs376600105	missense variant	-	NC_000001.11:g.81837030G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val16Leu	rs376600105	missense variant	-	NC_000001.11:g.81837030G>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro21Thr	rs922086778	missense variant	-	NC_000001.11:g.81837045C>A	-
ADGRL2	O95490	p.Gly25Val	rs768961675	missense variant	-	NC_000001.11:g.81907017G>T	ExAC,gnomAD
ADGRL2	O95490	p.Gly25Asp	rs768961675	missense variant	-	NC_000001.11:g.81907017G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser27Asn	rs1401809421	missense variant	-	NC_000001.11:g.81907023G>A	gnomAD
ADGRL2	O95490	p.Val36Ala	rs774392019	missense variant	-	NC_000001.11:g.81907050T>C	ExAC,gnomAD
ADGRL2	O95490	p.Arg37Lys	rs1205992620	missense variant	-	NC_000001.11:g.81907053G>A	TOPMed
ADGRL2	O95490	p.Arg38Gln	rs1195606200	missense variant	-	NC_000001.11:g.81907056G>A	gnomAD
ADGRL2	O95490	p.Leu49Val	rs748207651	missense variant	-	NC_000001.11:g.81907088C>G	ExAC,gnomAD
ADGRL2	O95490	p.Cys51Trp	rs765076851	missense variant	-	NC_000001.11:g.81907096C>G	ExAC,gnomAD
ADGRL2	O95490	p.Ser54Arg	rs893055734	missense variant	-	NC_000001.11:g.81907103A>C	TOPMed
ADGRL2	O95490	p.Ser54Asn	rs762626450	missense variant	-	NC_000001.11:g.81907104G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile57Val	rs763838900	missense variant	-	NC_000001.11:g.81907112A>G	ExAC,gnomAD
ADGRL2	O95490	p.Met58Val	rs1365939876	missense variant	-	NC_000001.11:g.81907115A>G	gnomAD
ADGRL2	O95490	p.Ile59Val	rs142992362	missense variant	-	NC_000001.11:g.81907118A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser61Arg	rs769350694	missense variant	-	NC_000001.11:g.81907126C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala62Thr	rs780914901	missense variant	-	NC_000001.11:g.81907127G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asn63Lys	rs536408064	missense variant	-	NC_000001.11:g.81907132C>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Thr67Met	rs1325228176	missense variant	-	NC_000001.11:g.81907143C>T	gnomAD
ADGRL2	O95490	p.Asp69Glu	rs756734698	missense variant	-	NC_000001.11:g.81907150C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp69Glu	rs756734698	missense variant	-	NC_000001.11:g.81907150C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala74Thr	rs200009196	missense variant	-	NC_000001.11:g.81907163G>A	1000Genomes,gnomAD
ADGRL2	O95490	p.Pro76Leu	rs1362028404	missense variant	-	NC_000001.11:g.81907170C>T	gnomAD
ADGRL2	O95490	p.Gln78His	rs780393998	missense variant	-	NC_000001.11:g.81907177G>C	ExAC,gnomAD
ADGRL2	O95490	p.Gln78His	rs780393998	missense variant	-	NC_000001.11:g.81907177G>T	ExAC,gnomAD
ADGRL2	O95490	p.Glu80Asp	rs749691144	missense variant	-	NC_000001.11:g.81907183G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr82Ala	rs779206551	missense variant	-	NC_000001.11:g.81907187A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp83Gly	rs1263171781	missense variant	-	NC_000001.11:g.81907191A>G	gnomAD
ADGRL2	O95490	p.Tyr85Cys	rs1426710649	missense variant	-	NC_000001.11:g.81907197A>G	gnomAD
ADGRL2	O95490	p.Leu86Phe	rs910925879	missense variant	-	NC_000001.11:g.81907199C>T	gnomAD
ADGRL2	O95490	p.Asp88Val	rs1365207880	missense variant	-	NC_000001.11:g.81907206A>T	gnomAD
ADGRL2	O95490	p.Asp88Glu	rs1454462656	missense variant	-	NC_000001.11:g.81907207T>G	gnomAD
ADGRL2	O95490	p.Asp88Asn	rs943585829	missense variant	-	NC_000001.11:g.81907205G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Ala89Val	rs773340359	missense variant	-	NC_000001.11:g.81907209C>T	ExAC
ADGRL2	O95490	p.Thr94Ser	rs1382856065	missense variant	-	NC_000001.11:g.81907224C>G	gnomAD
ADGRL2	O95490	p.Gln95Arg	rs1382218976	missense variant	-	NC_000001.11:g.81907227A>G	gnomAD
ADGRL2	O95490	p.Asn98Ser	rs1243529387	missense variant	-	NC_000001.11:g.81936733A>G	TOPMed
ADGRL2	O95490	p.Asn99Ser	rs776305485	missense variant	-	NC_000001.11:g.81936736A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg100Ter	rs775512975	stop gained	-	NC_000001.11:g.81936738C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile104Val	rs757483540	missense variant	-	NC_000001.11:g.81936750A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Val105Ile	rs749114277	missense variant	-	NC_000001.11:g.81936753G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly108Val	rs767308892	missense variant	-	NC_000001.11:g.81936763G>T	ExAC,gnomAD
ADGRL2	O95490	p.Asp110Gly	rs772947622	missense variant	-	NC_000001.11:g.81936769A>G	ExAC,gnomAD
ADGRL2	O95490	p.Thr119Ile	rs1468753578	missense variant	-	NC_000001.11:g.81936796C>T	gnomAD
ADGRL2	O95490	p.Gln126Ter	rs1171664554	stop gained	-	NC_000001.11:g.81936816C>T	TOPMed
ADGRL2	O95490	p.Ile133Val	rs139190382	missense variant	-	NC_000001.11:g.81936837A>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly138Glu	rs1287865261	missense variant	-	NC_000001.11:g.81942984G>A	gnomAD
ADGRL2	O95490	p.Thr139Ile	rs144007597	missense variant	-	NC_000001.11:g.81942987C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp145Val	rs1302713884	missense variant	-	NC_000001.11:g.81943005A>T	TOPMed
ADGRL2	O95490	p.Asp145Asn	rs780721378	missense variant	-	NC_000001.11:g.81943004G>A	ExAC
ADGRL2	O95490	p.Pro147Thr	rs745459122	missense variant	-	NC_000001.11:g.81943010C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Cys148Arg	rs1344863320	missense variant	-	NC_000001.11:g.81943013T>C	TOPMed,gnomAD
ADGRL2	O95490	p.Cys148Tyr	rs1327074872	missense variant	-	NC_000001.11:g.81943014G>A	TOPMed
ADGRL2	O95490	p.Ile149Val	rs775041759	missense variant	-	NC_000001.11:g.81943016A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu151Ala	rs182862761	missense variant	-	NC_000001.11:g.81943023A>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala152Gly	rs1250511692	missense variant	-	NC_000001.11:g.81943026C>G	gnomAD
ADGRL2	O95490	p.Ala152Thr	rs769181656	missense variant	-	NC_000001.11:g.81943025G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gln154His	rs1200889861	missense variant	-	NC_000001.11:g.81943033A>C	gnomAD
ADGRL2	O95490	p.Ala156Pro	rs1159475329	missense variant	-	NC_000001.11:g.81943037G>C	gnomAD
ADGRL2	O95490	p.Ala156Val	rs200377136	missense variant	-	NC_000001.11:g.81943038C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly157Ser	rs1168327055	missense variant	-	NC_000001.11:g.81943040G>A	gnomAD
ADGRL2	O95490	p.Ala158Thr	rs1398337913	missense variant	-	NC_000001.11:g.81943043G>A	gnomAD
ADGRL2	O95490	p.Cys160Trp	rs761033313	missense variant	-	NC_000001.11:g.81943051C>G	ExAC,gnomAD
ADGRL2	O95490	p.Cys160Phe	rs187930349	missense variant	-	NC_000001.11:g.81943050G>T	1000Genomes,ExAC
ADGRL2	O95490	p.Lys161Glu	rs1307653586	missense variant	-	NC_000001.11:g.81943052A>G	gnomAD
ADGRL2	O95490	p.Ala166Gly	rs1299230639	missense variant	-	NC_000001.11:g.81943068C>G	gnomAD
ADGRL2	O95490	p.Ala166Ser	rs754013841	missense variant	-	NC_000001.11:g.81943067G>T	ExAC,gnomAD
ADGRL2	O95490	p.Met173Val	rs777597517	missense variant	-	NC_000001.11:g.81943088A>G	ExAC,gnomAD
ADGRL2	O95490	p.Thr176Ser	rs1403318124	missense variant	-	NC_000001.11:g.81943097A>T	gnomAD
ADGRL2	O95490	p.Arg179Cys	rs752679138	missense variant	-	NC_000001.11:g.81943106C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg179Leu	rs1204800213	missense variant	-	NC_000001.11:g.81943107G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Asp181Tyr	rs755815823	missense variant	-	NC_000001.11:g.81943112G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp181Asn	rs755815823	missense variant	-	NC_000001.11:g.81943112G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu183Val	rs748818234	missense variant	-	NC_000001.11:g.81943118T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile184Thr	rs1264621310	missense variant	-	NC_000001.11:g.81943122T>C	gnomAD
ADGRL2	O95490	p.Glu185Asp	rs768154117	missense variant	-	NC_000001.11:g.81943126A>C	ExAC,gnomAD
ADGRL2	O95490	p.Ala187Ser	rs774724301	missense variant	-	NC_000001.11:g.81943130G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu189Val	rs1374649493	missense variant	-	NC_000001.11:g.81943136T>G	gnomAD
ADGRL2	O95490	p.Glu190Lys	rs748752495	missense variant	-	NC_000001.11:g.81943139G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asp191Glu	rs1167668750	missense variant	-	NC_000001.11:g.81943144T>G	gnomAD
ADGRL2	O95490	p.Phe192Leu	rs773672775	missense variant	-	NC_000001.11:g.81943147C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe192Cys	rs201538464	missense variant	-	NC_000001.11:g.81943146T>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asn194Ser	rs1026922526	missense variant	-	NC_000001.11:g.81943152A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ser195Cys	rs761088337	missense variant	-	NC_000001.11:g.81943154A>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg196His	rs577293051	missense variant	-	NC_000001.11:g.81943158G>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Arg196Cys	rs1041419067	missense variant	-	NC_000001.11:g.81943157C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Tyr201His	rs759705946	missense variant	-	NC_000001.11:g.81943172T>C	ExAC,gnomAD
ADGRL2	O95490	p.Leu203Phe	rs1263229653	missense variant	-	NC_000001.11:g.81943178C>T	gnomAD
ADGRL2	O95490	p.Arg206Ter	rs1487870704	stop gained	-	NC_000001.11:g.81943187C>T	gnomAD
ADGRL2	O95490	p.Val213Ala	rs1463456233	missense variant	-	NC_000001.11:g.81943209T>C	gnomAD
ADGRL2	O95490	p.Tyr215Cys	rs1385609600	missense variant	-	NC_000001.11:g.81943215A>G	gnomAD
ADGRL2	O95490	p.Asp216Asn	rs865853749	missense variant	-	NC_000001.11:g.81943217G>A	gnomAD
ADGRL2	O95490	p.Gly217Asp	rs1051598019	missense variant	-	NC_000001.11:g.81943221G>A	TOPMed
ADGRL2	O95490	p.Ala218Thr	rs767336672	missense variant	-	NC_000001.11:g.81943223G>A	ExAC,gnomAD
ADGRL2	O95490	p.Val219Ile	rs1454383700	missense variant	-	NC_000001.11:g.81943226G>A	gnomAD
ADGRL2	O95490	p.Phe220Leu	rs1360355130	missense variant	-	NC_000001.11:g.81943231C>A	TOPMed
ADGRL2	O95490	p.Phe220Ser	rs1387132521	missense variant	-	NC_000001.11:g.81943230T>C	gnomAD
ADGRL2	O95490	p.Phe220Ile	rs750247592	missense variant	-	NC_000001.11:g.81943229T>A	ExAC,gnomAD
ADGRL2	O95490	p.Phe221Tyr	rs755853238	missense variant	-	NC_000001.11:g.81943233T>A	ExAC,gnomAD
ADGRL2	O95490	p.Thr226Met	rs1229743701	missense variant	-	NC_000001.11:g.81943248C>T	gnomAD
ADGRL2	O95490	p.Phe232Leu	rs372512578	missense variant	-	NC_000001.11:g.81943267T>A	ESP
ADGRL2	O95490	p.Phe232Tyr	rs146694157	missense variant	-	NC_000001.11:g.81943266T>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg235Ser	rs1436024502	missense variant	-	NC_000001.11:g.81943276G>T	TOPMed
ADGRL2	O95490	p.Arg237Ser	rs144043060	missense variant	-	NC_000001.11:g.81943282A>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu242Lys	rs1484112964	missense variant	-	NC_000001.11:g.81943295G>A	gnomAD
ADGRL2	O95490	p.Tyr247His	rs1285557510	missense variant	-	NC_000001.11:g.81943310T>C	TOPMed
ADGRL2	O95490	p.Tyr250His	rs561209754	missense variant	-	NC_000001.11:g.81943319T>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Arg257Ser	rs767511606	missense variant	-	NC_000001.11:g.81943342A>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg257Gly	rs775689046	missense variant	-	NC_000001.11:g.81943340A>G	ExAC,gnomAD
ADGRL2	O95490	p.Arg257Lys	rs762913159	missense variant	-	NC_000001.11:g.81943341G>A	ExAC
ADGRL2	O95490	p.Trp258Arg	rs1446301500	missense variant	-	NC_000001.11:g.81943343T>C	gnomAD
ADGRL2	O95490	p.Lys261Gln	rs750301010	missense variant	-	NC_000001.11:g.81943352A>C	ExAC,TOPMed
ADGRL2	O95490	p.Thr262Ser	rs1302585481	missense variant	-	NC_000001.11:g.81943355A>T	gnomAD
ADGRL2	O95490	p.Ile264Val	rs755906651	missense variant	-	NC_000001.11:g.81943361A>G	ExAC,gnomAD
ADGRL2	O95490	p.Val268Ala	rs754705217	missense variant	-	NC_000001.11:g.81943374T>C	ExAC,gnomAD
ADGRL2	O95490	p.Gly272Arg	rs778395762	missense variant	-	NC_000001.11:g.81943385G>C	ExAC,gnomAD
ADGRL2	O95490	p.Val275Ile	rs1313830119	missense variant	-	NC_000001.11:g.81943394G>A	gnomAD
ADGRL2	O95490	p.Ala278Thr	rs778439430	missense variant	-	NC_000001.11:g.81943403G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gln281Arg	rs1184601410	missense variant	-	NC_000001.11:g.81943413A>G	gnomAD
ADGRL2	O95490	p.Asn282Ser	rs1208884524	missense variant	-	NC_000001.11:g.81943416A>G	TOPMed
ADGRL2	O95490	p.Asn283Ser	rs1249802379	missense variant	-	NC_000001.11:g.81943419A>G	gnomAD
ADGRL2	O95490	p.Met285Ile	rs1256626662	missense variant	-	NC_000001.11:g.81943426G>A	TOPMed
ADGRL2	O95490	p.Ile288Thr	rs771565011	missense variant	-	NC_000001.11:g.81943434T>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro293Thr	rs781730195	missense variant	-	NC_000001.11:g.81943448C>A	ExAC,gnomAD
ADGRL2	O95490	p.Tyr294Asn	rs1175853860	missense variant	-	NC_000001.11:g.81943451T>A	gnomAD
ADGRL2	O95490	p.Thr295Ala	rs1355464174	missense variant	-	NC_000001.11:g.81943454A>G	gnomAD
ADGRL2	O95490	p.Arg297Gln	rs746200328	missense variant	-	NC_000001.11:g.81943461G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg297Leu	rs746200328	missense variant	-	NC_000001.11:g.81943461G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr301Met	rs770097166	missense variant	-	NC_000001.11:g.81943473C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr301Ser	rs1489147681	missense variant	-	NC_000001.11:g.81943472A>T	gnomAD
ADGRL2	O95490	p.Trp302Leu	rs1408708856	missense variant	-	NC_000001.11:g.81943476G>T	gnomAD
ADGRL2	O95490	p.Glu303Lys	rs1355443553	missense variant	-	NC_000001.11:g.81943478G>A	TOPMed
ADGRL2	O95490	p.Asp307Asn	rs140256557	missense variant	-	NC_000001.11:g.81943490G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala310Val	rs1307859781	missense variant	-	NC_000001.11:g.81943500C>T	gnomAD
ADGRL2	O95490	p.Ala311Thr	rs1003335830	missense variant	-	NC_000001.11:g.81943502G>A	gnomAD
ADGRL2	O95490	p.Ala311Ser	rs1003335830	missense variant	-	NC_000001.11:g.81943502G>T	gnomAD
ADGRL2	O95490	p.Met316Val	rs959532564	missense variant	-	NC_000001.11:g.81943517A>G	TOPMed
ADGRL2	O95490	p.Tyr322His	rs1477358823	missense variant	-	NC_000001.11:g.81943535T>C	gnomAD
ADGRL2	O95490	p.Val324Ile	rs1191117419	missense variant	-	NC_000001.11:g.81943541G>A	gnomAD
ADGRL2	O95490	p.Ser326Ala	rs989656727	missense variant	-	NC_000001.11:g.81943547T>G	TOPMed
ADGRL2	O95490	p.Tyr328Phe	rs759210116	missense variant	-	NC_000001.11:g.81943554A>T	ExAC,gnomAD
ADGRL2	O95490	p.Ser333Arg	rs1415637297	missense variant	-	NC_000001.11:g.81943568A>C	TOPMed
ADGRL2	O95490	p.Gly336Val	rs1167044032	missense variant	-	NC_000001.11:g.81943578G>T	gnomAD
ADGRL2	O95490	p.Gly336Asp	rs1167044032	missense variant	-	NC_000001.11:g.81943578G>A	gnomAD
ADGRL2	O95490	p.Lys337Thr	rs150461118	missense variant	-	NC_000001.11:g.81943581A>C	ESP
ADGRL2	O95490	p.Ile340Val	rs1428669133	missense variant	-	NC_000001.11:g.81943589A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ile343Val	rs1351106100	missense variant	-	NC_000001.11:g.81943598A>G	gnomAD
ADGRL2	O95490	p.Ile343Met	rs552007701	missense variant	-	NC_000001.11:g.81943600T>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn345Ser	rs977096384	missense variant	-	NC_000001.11:g.81943605A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Thr346Ala	rs924306638	missense variant	-	NC_000001.11:g.81943607A>G	TOPMed
ADGRL2	O95490	p.Arg347Gln	rs1230366553	missense variant	-	NC_000001.11:g.81943611G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Arg350Leu	rs139129579	missense variant	-	NC_000001.11:g.81943620G>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg350Ter	rs757891324	stop gained	-	NC_000001.11:g.81943619C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg350Gly	rs757891324	missense variant	-	NC_000001.11:g.81943619C>G	ExAC,gnomAD
ADGRL2	O95490	p.Arg350Gln	rs139129579	missense variant	-	NC_000001.11:g.81943620G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu352Lys	rs1292198975	missense variant	-	NC_000001.11:g.81943625G>A	gnomAD
ADGRL2	O95490	p.Glu352Gly	rs769993520	missense variant	-	NC_000001.11:g.81943626A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp355His	rs780325031	missense variant	-	NC_000001.11:g.81943634G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp355Asn	rs780325031	missense variant	-	NC_000001.11:g.81943634G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln361Arg	rs147030277	missense variant	-	NC_000001.11:g.81943653A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile365Val	rs1389921950	missense variant	-	NC_000001.11:g.81943664A>G	gnomAD
ADGRL2	O95490	p.Ala366Val	rs141768846	missense variant	-	NC_000001.11:g.81943668C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn371Ser	rs770884955	missense variant	-	NC_000001.11:g.81943683A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val379Leu	rs538062733	missense variant	-	NC_000001.11:g.81943706G>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asn381Ile	rs1475499522	missense variant	-	NC_000001.11:g.81943713A>T	TOPMed
ADGRL2	O95490	p.Arg387Leu	rs764875953	missense variant	-	NC_000001.11:g.81943731G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg387Gln	rs764875953	missense variant	-	NC_000001.11:g.81943731G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe392Leu	rs752532913	missense variant	-	NC_000001.11:g.81943747T>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly393Arg	rs762756082	missense variant	-	NC_000001.11:g.81943748G>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro395Ser	rs1285008174	missense variant	-	NC_000001.11:g.81943754C>T	gnomAD
ADGRL2	O95490	p.Asp396Glu	rs1331901685	missense variant	-	NC_000001.11:g.81943759T>A	gnomAD
ADGRL2	O95490	p.Ala398Thr	rs763820650	missense variant	-	NC_000001.11:g.81943763G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln399His	rs1447421970	missense variant	-	NC_000001.11:g.81943768A>C	gnomAD
ADGRL2	O95490	p.Thr402Ser	rs1342059572	missense variant	-	NC_000001.11:g.81950194A>T	TOPMed
ADGRL2	O95490	p.Ala404Thr	rs761410106	missense variant	-	NC_000001.11:g.81950200G>A	ExAC,gnomAD
ADGRL2	O95490	p.Val405Ala	rs749931960	missense variant	-	NC_000001.11:g.81950204T>C	ExAC,gnomAD
ADGRL2	O95490	p.Ile407Val	rs781239924	missense variant	-	NC_000001.11:g.81950209A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser409Phe	rs1199781519	missense variant	-	NC_000001.11:g.81950216C>T	gnomAD
ADGRL2	O95490	p.Ala411Pro	rs1308871550	missense variant	-	NC_000001.11:g.81950221G>C	gnomAD
ADGRL2	O95490	p.Ala411Val	rs1372578567	missense variant	-	NC_000001.11:g.81950222C>T	gnomAD
ADGRL2	O95490	p.Glu412Gln	rs1408102476	missense variant	-	NC_000001.11:g.81950224G>C	gnomAD
ADGRL2	O95490	p.Leu413Val	rs539643450	missense variant	-	NC_000001.11:g.81950227C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Leu413Gln	rs1332221301	missense variant	-	NC_000001.11:g.81950228T>A	TOPMed,gnomAD
ADGRL2	O95490	p.Thr416Ile	rs1236045063	missense variant	-	NC_000001.11:g.81950237C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Thr416Ser	rs1236045063	missense variant	-	NC_000001.11:g.81950237C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ile417Val	rs139594598	missense variant	-	NC_000001.11:g.81950239A>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile418Val	rs1344754184	missense variant	-	NC_000001.11:g.81950242A>G	gnomAD
ADGRL2	O95490	p.Ile418Met	rs1206239294	missense variant	-	NC_000001.11:g.81950244A>G	gnomAD
ADGRL2	O95490	p.Ser419Ala	rs1274932787	missense variant	-	NC_000001.11:g.81950245T>G	gnomAD
ADGRL2	O95490	p.Ser419Leu	rs367932426	missense variant	-	NC_000001.11:g.81950246C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr420Ala	rs201834453	missense variant	-	NC_000001.11:g.81950248A>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ser422Arg	rs748305277	missense variant	-	NC_000001.11:g.81950256C>A	ExAC,gnomAD
ADGRL2	O95490	p.Thr423Ile	rs758616029	missense variant	-	NC_000001.11:g.81950258C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr424Ala	rs777775018	missense variant	-	NC_000001.11:g.81950260A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gln426Glu	rs370794666	missense variant	-	NC_000001.11:g.81950266C>G	ESP,TOPMed,gnomAD
ADGRL2	O95490	p.Lys427Asn	rs1414730811	missense variant	-	NC_000001.11:g.81950271A>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly428Asp	rs1190413156	missense variant	-	NC_000001.11:g.81950273G>A	TOPMed
ADGRL2	O95490	p.Gly428Ala	rs1190413156	missense variant	-	NC_000001.11:g.81950273G>C	TOPMed
ADGRL2	O95490	p.Pro429Leu	rs968852464	missense variant	-	NC_000001.11:g.81950276C>T	gnomAD
ADGRL2	O95490	p.Met430Arg	rs916707063	missense variant	-	NC_000001.11:g.81950279T>G	TOPMed
ADGRL2	O95490	p.Met430Ile	rs769663548	missense variant	-	NC_000001.11:g.81950280G>A	ExAC,gnomAD
ADGRL2	O95490	p.Met430Leu	rs1392294079	missense variant	-	NC_000001.11:g.81950278A>C	gnomAD
ADGRL2	O95490	p.Ser431Gly	rs1307554352	missense variant	-	NC_000001.11:g.81950281A>G	gnomAD
ADGRL2	O95490	p.Thr432Ser	rs1391530909	missense variant	-	NC_000001.11:g.81950284A>T	gnomAD
ADGRL2	O95490	p.Thr433Ser	rs1388522029	missense variant	-	NC_000001.11:g.81950287A>T	TOPMed,gnomAD
ADGRL2	O95490	p.Thr433Ala	rs1388522029	missense variant	-	NC_000001.11:g.81950287A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Val434Leu	rs1322158439	missense variant	-	NC_000001.11:g.81950290G>T	gnomAD
ADGRL2	O95490	p.Gly440Arg	rs1343916722	missense variant	-	NC_000001.11:g.81950308G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Gly440Ala	rs572962964	missense variant	-	NC_000001.11:g.81950309G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly440Glu	rs572962964	missense variant	-	NC_000001.11:g.81950309G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser441Arg	rs927330174	missense variant	-	NC_000001.11:g.81950311A>C	gnomAD
ADGRL2	O95490	p.Ser441Ile	rs1488525752	missense variant	-	NC_000001.11:g.81950312G>T	gnomAD
ADGRL2	O95490	p.Lys442Glu	rs924181336	missense variant	-	NC_000001.11:g.81950314A>G	TOPMed
ADGRL2	O95490	p.Gly443Arg	rs1211050608	missense variant	-	NC_000001.11:g.81950317G>A	gnomAD
ADGRL2	O95490	p.Thr444Ala	rs367624384	missense variant	-	NC_000001.11:g.81950320A>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr444Lys	rs767172348	missense variant	-	NC_000001.11:g.81950321C>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro446Thr	rs1189026835	missense variant	-	NC_000001.11:g.81950326C>A	TOPMed,gnomAD
ADGRL2	O95490	p.Pro446Ser	rs1189026835	missense variant	-	NC_000001.11:g.81950326C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Pro448Thr	rs760192036	missense variant	-	NC_000001.11:g.81950332C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val450Ala	rs1369210729	missense variant	-	NC_000001.11:g.81950339T>C	gnomAD
ADGRL2	O95490	p.Val450Phe	rs1168196940	missense variant	-	NC_000001.11:g.81950338G>T	gnomAD
ADGRL2	O95490	p.Thr452Ala	rs561207716	missense variant	-	NC_000001.11:g.81950344A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro456Leu	rs759899683	missense variant	-	NC_000001.11:g.81950357C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro456Ser	rs112681863	missense variant	-	NC_000001.11:g.81950356C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile458Val	rs199620944	missense variant	-	NC_000001.11:g.81950362A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile458Met	rs753048297	missense variant	-	NC_000001.11:g.81950364A>G	ExAC
ADGRL2	O95490	p.Asn460Lys	rs758597116	missense variant	-	NC_000001.11:g.81950370T>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile461Ser	rs560176083	missense variant	-	NC_000001.11:g.81950372T>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ile461Thr	rs560176083	missense variant	-	NC_000001.11:g.81950372T>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Phe462Ser	rs751626246	missense variant	-	NC_000001.11:g.81950375T>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro463Leu	rs757313514	missense variant	-	NC_000001.11:g.81950378C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu464Pro	rs1263136262	missense variant	-	NC_000001.11:g.81950381T>C	gnomAD
ADGRL2	O95490	p.Pro465Leu	rs779871071	missense variant	-	NC_000001.11:g.81950384C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg467Ser	rs201613006	missense variant	-	NC_000001.11:g.81950391A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg467Thr	VAR_077836	Missense	-	-	UniProt
ADGRL2	O95490	p.Phe468Leu	rs918614589	missense variant	-	NC_000001.11:g.81950394C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Cys469Tyr	rs778897402	missense variant	-	NC_000001.11:g.81950396G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asp473Gly	rs1257157242	missense variant	-	NC_000001.11:g.81950408A>G	gnomAD
ADGRL2	O95490	p.Lys475Thr	rs900274477	missense variant	-	NC_000001.11:g.81950414A>C	TOPMed,gnomAD
ADGRL2	O95490	p.Lys475Arg	rs900274477	missense variant	-	NC_000001.11:g.81950414A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Gly476Arg	rs1185573836	missense variant	-	NC_000001.11:g.81950416G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Gly476Glu	rs1471367918	missense variant	-	NC_000001.11:g.81950417G>A	TOPMed
ADGRL2	O95490	p.Pro480Ser	rs771653946	missense variant	-	NC_000001.11:g.81950428C>T	ExAC,gnomAD
ADGRL2	O95490	p.Thr482Ser	rs551874502	missense variant	-	NC_000001.11:g.81950434A>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Thr482Ala	rs551874502	missense variant	-	NC_000001.11:g.81950434A>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Gln483Glu	rs186256320	missense variant	-	NC_000001.11:g.81950437C>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Gly485Ala	rs1457067591	missense variant	-	NC_000001.11:g.81950444G>C	gnomAD
ADGRL2	O95490	p.Met486Val	rs770405766	missense variant	-	NC_000001.11:g.81950446A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met487Val	rs776115597	missense variant	-	NC_000001.11:g.81950449A>G	ExAC,gnomAD
ADGRL2	O95490	p.Met487Thr	rs1397398600	missense variant	-	NC_000001.11:g.81950450T>C	gnomAD
ADGRL2	O95490	p.Glu489Gln	rs1310034801	missense variant	-	NC_000001.11:g.81950455G>C	gnomAD
ADGRL2	O95490	p.Arg490Gln	rs765710656	missense variant	-	NC_000001.11:g.81950459G>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro491Ala	rs753101549	missense variant	-	NC_000001.11:g.81950461C>G	ExAC,gnomAD
ADGRL2	O95490	p.Pro491Leu	rs758607216	missense variant	-	NC_000001.11:g.81950462C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly495Arg	rs763341128	missense variant	-	NC_000001.11:g.81950473G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly495Glu	rs1198941375	missense variant	-	NC_000001.11:g.81950474G>A	gnomAD
ADGRL2	O95490	p.Thr496Arg	rs764247248	missense variant	-	NC_000001.11:g.81950477C>G	ExAC,gnomAD
ADGRL2	O95490	p.Thr496Ile	rs764247248	missense variant	-	NC_000001.11:g.81950477C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg497Gly	rs1327794285	missense variant	-	NC_000001.11:g.81950479A>G	TOPMed
ADGRL2	O95490	p.Gly498Ala	rs1480627062	missense variant	-	NC_000001.11:g.81951018G>C	gnomAD
ADGRL2	O95490	p.Ser501Leu	rs1427790721	missense variant	-	NC_000001.11:g.81951027C>T	gnomAD
ADGRL2	O95490	p.Leu503Phe	rs759016504	missense variant	-	NC_000001.11:g.81951032C>T	ExAC,gnomAD
ADGRL2	O95490	p.Met505Val	rs1394140104	missense variant	-	NC_000001.11:g.81951038A>G	gnomAD
ADGRL2	O95490	p.Ile506Phe	rs770320770	missense variant	-	NC_000001.11:g.81951041A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser507Pro	rs375025939	missense variant	-	NC_000001.11:g.81951044T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly509Val	rs1172737484	missense variant	-	NC_000001.11:g.81951051G>T	gnomAD
ADGRL2	O95490	p.Asn512Asp	rs763242537	missense variant	-	NC_000001.11:g.81951059A>G	ExAC,gnomAD
ADGRL2	O95490	p.Pro513Leu	rs764455185	missense variant	-	NC_000001.11:g.81951063C>T	ExAC,gnomAD
ADGRL2	O95490	p.Pro513Arg	rs764455185	missense variant	-	NC_000001.11:g.81951063C>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp517Asn	rs767811966	missense variant	-	NC_000001.11:g.81951074G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser519Thr	rs1343201443	missense variant	-	NC_000001.11:g.81951081G>C	gnomAD
ADGRL2	O95490	p.Asn520Ser	rs1230873479	missense variant	-	NC_000001.11:g.81951084A>G	gnomAD
ADGRL2	O95490	p.Asn520Lys	rs750558783	missense variant	-	NC_000001.11:g.81951085C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Cys521Ser	rs1307000905	missense variant	-	NC_000001.11:g.81951087G>C	gnomAD
ADGRL2	O95490	p.Thr522Ala	rs1222327871	missense variant	-	NC_000001.11:g.81951089A>G	gnomAD
ADGRL2	O95490	p.Trp525Leu	rs1487772342	missense variant	-	NC_000001.11:g.81951099G>T	gnomAD
ADGRL2	O95490	p.Leu529Met	rs1026120553	missense variant	-	NC_000001.11:g.81951110C>A	gnomAD
ADGRL2	O95490	p.Ala530Ser	rs147910384	missense variant	-	NC_000001.11:g.81951113G>T	1000Genomes,ESP,ExAC,gnomAD
ADGRL2	O95490	p.Ala530Thr	rs147910384	missense variant	-	NC_000001.11:g.81951113G>A	1000Genomes,ESP,ExAC,gnomAD
ADGRL2	O95490	p.Lys532Asn	rs1170099299	missense variant	-	NC_000001.11:g.81951121G>T	gnomAD
ADGRL2	O95490	p.Arg534Ser	rs757001353	missense variant	-	NC_000001.11:g.81951962A>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg534Lys	rs751402495	missense variant	-	NC_000001.11:g.81951961G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser535Gly	rs780840604	missense variant	-	NC_000001.11:g.81951963A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gly536Arg	rs755762837	missense variant	-	NC_000001.11:g.81951966G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu537Ala	rs779661718	missense variant	-	NC_000001.11:g.81951970A>C	ExAC,gnomAD
ADGRL2	O95490	p.Glu537Asp	rs748714494	missense variant	-	NC_000001.11:g.81951971A>C	ExAC,gnomAD
ADGRL2	O95490	p.Asn538Asp	rs769233366	missense variant	-	NC_000001.11:g.81951972A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ala540Pro	rs774668867	missense variant	-	NC_000001.11:g.81951978G>C	ExAC,gnomAD
ADGRL2	O95490	p.Ser541Arg	rs748535553	missense variant	-	NC_000001.11:g.81951981A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser541Asn	rs1446128752	missense variant	-	NC_000001.11:g.81951982G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Ser541Gly	rs748535553	missense variant	-	NC_000001.11:g.81951981A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu542His	rs1262664165	missense variant	-	NC_000001.11:g.81951985T>A	gnomAD
ADGRL2	O95490	p.Ala543Thr	rs193155723	missense variant	-	NC_000001.11:g.81951987G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn544Ser	rs773706452	missense variant	-	NC_000001.11:g.81951991A>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu546Val	rs761035228	missense variant	-	NC_000001.11:g.81951996C>G	ExAC,gnomAD
ADGRL2	O95490	p.Lys548Gln	rs771258305	missense variant	-	NC_000001.11:g.81952002A>C	ExAC,gnomAD
ADGRL2	O95490	p.His549Arg	rs776813714	missense variant	-	NC_000001.11:g.81952006A>G	ExAC,gnomAD
ADGRL2	O95490	p.Thr550Ala	rs1303997544	missense variant	-	NC_000001.11:g.81952008A>G	TOPMed
ADGRL2	O95490	p.Lys551Arg	rs141619218	missense variant	-	NC_000001.11:g.81952012A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly552Ala	rs1352309477	missense variant	-	NC_000001.11:g.81952015G>C	TOPMed
ADGRL2	O95490	p.Gly552Trp	rs1383962316	missense variant	-	NC_000001.11:g.81952014G>T	gnomAD
ADGRL2	O95490	p.Val554Met	rs1027193209	missense variant	-	NC_000001.11:g.81952020G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Val554Ala	rs1373813136	missense variant	-	NC_000001.11:g.81952021T>C	gnomAD
ADGRL2	O95490	p.Val554Leu	rs1027193209	missense variant	-	NC_000001.11:g.81952020G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Ala556Pro	rs564846501	missense variant	-	NC_000001.11:g.81952026G>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ala556Val	rs1289031357	missense variant	-	NC_000001.11:g.81952027C>T	gnomAD
ADGRL2	O95490	p.Asp558Val	rs761606004	missense variant	-	NC_000001.11:g.81952033A>T	ExAC,gnomAD
ADGRL2	O95490	p.Val559Leu	rs952925844	missense variant	-	NC_000001.11:g.81952035G>C	TOPMed
ADGRL2	O95490	p.Ser561Phe	rs755801633	missense variant	-	NC_000001.11:g.81952042C>T	ExAC,gnomAD
ADGRL2	O95490	p.Val563Met	rs533343795	missense variant	-	NC_000001.11:g.81952047G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met566Thr	rs149537195	missense variant	-	NC_000001.11:g.81952057T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met566Leu	rs753407518	missense variant	-	NC_000001.11:g.81952056A>T	ExAC,gnomAD
ADGRL2	O95490	p.Gln568Arg	rs1014514997	missense variant	-	NC_000001.11:g.81952063A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Val570Ala	rs779479290	missense variant	-	NC_000001.11:g.81952069T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu573Val	rs772691879	missense variant	-	NC_000001.11:g.81952077C>G	ExAC,gnomAD
ADGRL2	O95490	p.Gln576Leu	rs375241960	missense variant	-	NC_000001.11:g.81952087A>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln578Pro	rs1328793780	missense variant	-	NC_000001.11:g.81952093A>C	gnomAD
ADGRL2	O95490	p.Glu579Lys	rs1332134220	missense variant	-	NC_000001.11:g.81952095G>A	gnomAD
ADGRL2	O95490	p.Leu580Met	rs775637676	missense variant	-	NC_000001.11:g.81952098C>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro582Ser	rs1458226486	missense variant	-	NC_000001.11:g.81952104C>T	TOPMed
ADGRL2	O95490	p.Ser583Asn	rs767408547	missense variant	-	NC_000001.11:g.81952108G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asp586His	rs750247530	missense variant	-	NC_000001.11:g.81952116G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly589Ala	rs1340875631	missense variant	-	NC_000001.11:g.81952126G>C	gnomAD
ADGRL2	O95490	p.Arg590Trp	rs766066027	missense variant	-	NC_000001.11:g.81952128C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg590Gln	rs370124207	missense variant	-	NC_000001.11:g.81952129G>A	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Ser591Thr	rs754652149	missense variant	-	NC_000001.11:g.81952132G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser591Asn	rs754652149	missense variant	-	NC_000001.11:g.81952132G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Lys594Thr	rs143207053	missense variant	-	NC_000001.11:g.81952141A>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu595Pro	rs1402164434	missense variant	-	NC_000001.11:g.81952988T>C	TOPMed
ADGRL2	O95490	p.Leu595Phe	rs1296761815	missense variant	-	NC_000001.11:g.81952987C>T	TOPMed
ADGRL2	O95490	p.Arg598Ter	rs940146446	stop gained	-	NC_000001.11:g.81952996C>T	TOPMed
ADGRL2	O95490	p.Arg598Gln	rs757781676	missense variant	-	NC_000001.11:g.81952997G>A	ExAC,gnomAD
ADGRL2	O95490	p.Lys600Met	rs1412323474	missense variant	-	NC_000001.11:g.81953003A>T	TOPMed
ADGRL2	O95490	p.Arg603Gly	rs746225953	missense variant	-	NC_000001.11:g.81953011A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala604Val	rs756318632	missense variant	-	NC_000001.11:g.81953015C>T	ExAC,gnomAD
ADGRL2	O95490	p.Ile609Val	rs1310513506	missense variant	-	NC_000001.11:g.81955880A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ile609Thr	rs368524872	missense variant	-	NC_000001.11:g.81955881T>C	ESP,gnomAD
ADGRL2	O95490	p.Asp614Tyr	rs889209448	missense variant	-	NC_000001.11:g.81955895G>T	gnomAD
ADGRL2	O95490	p.Asn615Ser	rs757757087	missense variant	-	NC_000001.11:g.81955899A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu623Lys	rs1019404771	missense variant	-	NC_000001.11:g.81955922G>A	TOPMed
ADGRL2	O95490	p.Ser624Pro	rs1486757897	missense variant	-	NC_000001.11:g.81955925T>C	gnomAD
ADGRL2	O95490	p.His627Tyr	rs780256229	missense variant	-	NC_000001.11:g.81955934C>T	ExAC,gnomAD
ADGRL2	O95490	p.His627Arg	rs754124685	missense variant	-	NC_000001.11:g.81955935A>G	ExAC
ADGRL2	O95490	p.Met628Thr	rs779012595	missense variant	-	NC_000001.11:g.81955938T>C	ExAC,gnomAD
ADGRL2	O95490	p.Asn629Ser	rs770805819	missense variant	-	NC_000001.11:g.81955941A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asn629Asp	rs748227216	missense variant	-	NC_000001.11:g.81955940A>G	ExAC,gnomAD
ADGRL2	O95490	p.Glu632Gly	rs1185493188	missense variant	-	NC_000001.11:g.81955950A>G	TOPMed
ADGRL2	O95490	p.Gln633Arg	rs1377885779	missense variant	-	NC_000001.11:g.81955953A>G	gnomAD
ADGRL2	O95490	p.Ala634Gly	rs781134792	missense variant	-	NC_000001.11:g.81955956C>G	ExAC,gnomAD
ADGRL2	O95490	p.His635Tyr	rs1484607410	missense variant	-	NC_000001.11:g.81955958C>T	TOPMed
ADGRL2	O95490	p.His635Gln	rs756854901	missense variant	-	NC_000001.11:g.81955960T>A	ExAC,gnomAD
ADGRL2	O95490	p.Thr636Ser	rs1262168685	missense variant	-	NC_000001.11:g.81955962C>G	TOPMed
ADGRL2	O95490	p.Met639Val	rs775424081	missense variant	-	NC_000001.11:g.81955970A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met639Ile	rs762754075	missense variant	-	NC_000001.11:g.81955972G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met639Thr	rs1176474957	missense variant	-	NC_000001.11:g.81955971T>C	gnomAD
ADGRL2	O95490	p.Met639Ile	rs762754075	missense variant	-	NC_000001.11:g.81955972G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu644Val	rs767919508	missense variant	-	NC_000001.11:g.81955985T>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu646Lys	rs1324265095	missense variant	-	NC_000001.11:g.81955991G>A	TOPMed
ADGRL2	O95490	p.Gly647Glu	rs750872794	missense variant	-	NC_000001.11:g.81955995G>A	ExAC,gnomAD
ADGRL2	O95490	p.Phe649Ser	rs1381761655	missense variant	-	NC_000001.11:g.81956001T>C	TOPMed
ADGRL2	O95490	p.Val650Asp	rs375944749	missense variant	-	NC_000001.11:g.81956004T>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala652Gly	rs573774273	missense variant	-	NC_000001.11:g.81956010C>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asp653Gly	rs754177828	missense variant	-	NC_000001.11:g.81956013A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp653Glu	rs542482663	missense variant	-	NC_000001.11:g.81956014C>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asn654Ser	rs779067381	missense variant	-	NC_000001.11:g.81956016A>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu655Arg	rs1380650355	missense variant	-	NC_000001.11:g.81956019T>G	gnomAD
ADGRL2	O95490	p.Leu655Val	rs1290659850	missense variant	-	NC_000001.11:g.81956018C>G	TOPMed
ADGRL2	O95490	p.Pro658Ala	rs1480576287	missense variant	-	NC_000001.11:g.81956027C>G	gnomAD
ADGRL2	O95490	p.Thr659Ile	rs1431791270	missense variant	-	NC_000001.11:g.81956031C>T	TOPMed
ADGRL2	O95490	p.Arg660Gly	rs1255275174	missense variant	-	NC_000001.11:g.81956033A>G	gnomAD
ADGRL2	O95490	p.Ser662Pro	rs1455362630	missense variant	-	NC_000001.11:g.81956039T>C	gnomAD
ADGRL2	O95490	p.Met663Val	rs1007743435	missense variant	-	NC_000001.11:g.81956042A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Met663Ile	rs758446671	missense variant	-	NC_000001.11:g.81956044G>A	ExAC,gnomAD
ADGRL2	O95490	p.Thr665Ala	rs1410070749	missense variant	-	NC_000001.11:g.81956048A>G	gnomAD
ADGRL2	O95490	p.Glu666Asp	rs1171861872	missense variant	-	NC_000001.11:g.81956053A>C	gnomAD
ADGRL2	O95490	p.Ile668Thr	rs199758386	missense variant	-	NC_000001.11:g.81956058T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu670Val	rs1228909918	missense variant	-	NC_000001.11:g.81966060C>G	gnomAD
ADGRL2	O95490	p.Val672Ile	rs751669877	missense variant	-	NC_000001.11:g.81966066G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala673Val	rs757872735	missense variant	-	NC_000001.11:g.81966070C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val674Ile	rs142415541	missense variant	-	NC_000001.11:g.81966072G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val674Leu	rs142415541	missense variant	-	NC_000001.11:g.81966072G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu675Val	rs1323537587	missense variant	-	NC_000001.11:g.81966075C>G	TOPMed
ADGRL2	O95490	p.Thr677Lys	rs1020642762	missense variant	-	NC_000001.11:g.81966082C>A	TOPMed
ADGRL2	O95490	p.Gln682Arg	rs1292115637	missense variant	-	NC_000001.11:g.81966097A>G	gnomAD
ADGRL2	O95490	p.Asp683Asn	rs1239946220	missense variant	-	NC_000001.11:g.81966099G>A	gnomAD
ADGRL2	O95490	p.Asp683Ala	rs1485272283	missense variant	-	NC_000001.11:g.81966100A>C	gnomAD
ADGRL2	O95490	p.Pro687Ser	rs866926691	missense variant	-	NC_000001.11:g.81966111C>T	-
ADGRL2	O95490	p.Gly689Ser	rs747889657	missense variant	-	NC_000001.11:g.81966117G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly694Asp	rs1290590350	missense variant	-	NC_000001.11:g.81966133G>A	TOPMed
ADGRL2	O95490	p.Ile697Val	rs61738843	missense variant	-	NC_000001.11:g.81966141A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ser700Phe	rs1349936299	missense variant	-	NC_000001.11:g.81966151C>T	TOPMed
ADGRL2	O95490	p.Ala701Thr	rs759899407	missense variant	-	NC_000001.11:g.81966153G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala701Val	rs145425053	missense variant	-	NC_000001.11:g.81966154C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn702Ile	rs1315386617	missense variant	-	NC_000001.11:g.81966157A>T	gnomAD
ADGRL2	O95490	p.Val704Ile	rs147920563	missense variant	-	NC_000001.11:g.81966162G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val704Phe	rs147920563	missense variant	-	NC_000001.11:g.81966162G>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln706Arg	rs200568074	missense variant	-	NC_000001.11:g.81966169A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu712Phe	rs775966822	missense variant	-	NC_000001.11:g.81966406C>T	ExAC,gnomAD
ADGRL2	O95490	p.Lys714Asn	rs1279210773	missense variant	-	NC_000001.11:g.81966414G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Lys714Asn	rs1279210773	missense variant	-	NC_000001.11:g.81966414G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Leu715Phe	rs552322182	missense variant	-	NC_000001.11:g.81966417G>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ile718Val	rs1009296035	missense variant	-	NC_000001.11:g.81966424A>G	gnomAD
ADGRL2	O95490	p.Ile719Leu	rs764403869	missense variant	-	NC_000001.11:g.81966427A>C	ExAC,gnomAD
ADGRL2	O95490	p.Arg721Gln	rs538105960	missense variant	-	NC_000001.11:g.81966434G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg721Trp	rs141918220	missense variant	-	NC_000001.11:g.81966433C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser722Thr	rs767760729	missense variant	-	NC_000001.11:g.81966437G>C	ExAC,gnomAD
ADGRL2	O95490	p.Gly724Glu	rs750505842	missense variant	-	NC_000001.11:g.81966443G>A	ExAC,gnomAD
ADGRL2	O95490	p.Phe726Ser	rs765044063	missense variant	-	NC_000001.11:g.81966449T>C	ExAC,gnomAD
ADGRL2	O95490	p.Ser728Thr	rs1449390188	missense variant	-	NC_000001.11:g.81966455G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Thr729Ile	rs958097534	missense variant	-	NC_000001.11:g.81966458C>T	TOPMed
ADGRL2	O95490	p.Glu730Gly	rs1169029507	missense variant	-	NC_000001.11:g.81966461A>G	gnomAD
ADGRL2	O95490	p.Asn731Asp	rs1166610234	missense variant	-	NC_000001.11:g.81966463A>G	TOPMed
ADGRL2	O95490	p.Thr733Ala	rs758149184	missense variant	-	NC_000001.11:g.81966469A>G	gnomAD
ADGRL2	O95490	p.Ile734Val	rs1447789363	missense variant	-	NC_000001.11:g.81966472A>G	TOPMed
ADGRL2	O95490	p.Lys735Glu	rs1328357460	missense variant	-	NC_000001.11:g.81966475A>G	gnomAD
ADGRL2	O95490	p.Lys735Ile	rs1371992408	missense variant	-	NC_000001.11:g.81966476A>T	gnomAD
ADGRL2	O95490	p.Gly742Asp	rs1443449341	missense variant	-	NC_000001.11:g.81966497G>A	gnomAD
ADGRL2	O95490	p.Arg743Leu	rs141656433	missense variant	-	NC_000001.11:g.81966500G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg743His	rs141656433	missense variant	-	NC_000001.11:g.81966500G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg743Gly	rs751279635	missense variant	-	NC_000001.11:g.81966499C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg743Cys	rs751279635	missense variant	-	NC_000001.11:g.81966499C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala748Thr	rs1232383993	missense variant	-	NC_000001.11:g.81966514G>A	gnomAD
ADGRL2	O95490	p.Ala748Val	rs770366997	missense variant	-	NC_000001.11:g.81966515C>T	ExAC,gnomAD
ADGRL2	O95490	p.Ala748Ser	rs1232383993	missense variant	-	NC_000001.11:g.81966514G>T	gnomAD
ADGRL2	O95490	p.His752Leu	rs1202570802	missense variant	-	NC_000001.11:g.81966527A>T	TOPMed
ADGRL2	O95490	p.His752Asn	rs965893779	missense variant	-	NC_000001.11:g.81966526C>A	TOPMed
ADGRL2	O95490	p.His752Gln	rs749681000	missense variant	-	NC_000001.11:g.81966528C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile758Thr	rs1203602141	missense variant	-	NC_000001.11:g.81966545T>C	TOPMed
ADGRL2	O95490	p.Arg764Pro	rs553433819	missense variant	-	NC_000001.11:g.81966563G>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg764Gln	rs553433819	missense variant	-	NC_000001.11:g.81966563G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu772Arg	rs949238240	missense variant	-	NC_000001.11:g.81966587T>G	TOPMed
ADGRL2	O95490	p.Thr774Pro	rs751334792	missense variant	-	NC_000001.11:g.81966592A>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro776Leu	rs756946253	missense variant	-	NC_000001.11:g.81966599C>T	ExAC,gnomAD
ADGRL2	O95490	p.His777Pro	rs534894740	missense variant	-	NC_000001.11:g.81966602A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile778Thr	rs749974813	missense variant	-	NC_000001.11:g.81966605T>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro780Ala	rs1297530576	missense variant	-	NC_000001.11:g.81968026C>G	gnomAD
ADGRL2	O95490	p.Asn782Ser	rs774165597	missense variant	-	NC_000001.11:g.81968033A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe784Ile	rs1306974327	missense variant	-	NC_000001.11:g.81968038T>A	TOPMed
ADGRL2	O95490	p.Asn785Ser	rs1477185157	missense variant	-	NC_000001.11:g.81968042A>G	gnomAD
ADGRL2	O95490	p.Ala786Gly	rs1234596485	missense variant	-	NC_000001.11:g.81968045C>G	gnomAD
ADGRL2	O95490	p.Tyr793Cys	rs1170613954	missense variant	-	NC_000001.11:g.81968066A>G	gnomAD
ADGRL2	O95490	p.Met798Val	rs902638170	missense variant	-	NC_000001.11:g.81968080A>G	gnomAD
ADGRL2	O95490	p.Met799Ile	rs1486979921	missense variant	-	NC_000001.11:g.81968085G>A	gnomAD
ADGRL2	O95490	p.Gly800Arg	rs1216545723	missense variant	-	NC_000001.11:g.81968086G>A	TOPMed
ADGRL2	O95490	p.Ser803Thr	rs571951429	missense variant	-	NC_000001.11:g.81968095T>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Gln805Pro	rs755571301	missense variant	-	NC_000001.11:g.81968102A>C	ExAC,gnomAD
ADGRL2	O95490	p.Val810Ala	rs779511713	missense variant	-	NC_000001.11:g.81968117T>C	ExAC,gnomAD
ADGRL2	O95490	p.Val810Ile	rs1340238659	missense variant	-	NC_000001.11:g.81968116G>A	TOPMed
ADGRL2	O95490	p.Asp811Tyr	rs1161596453	missense variant	-	NC_000001.11:g.81968119G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Thr815Ser	rs748535444	missense variant	-	NC_000001.11:g.81968132C>G	ExAC,gnomAD
ADGRL2	O95490	p.Arg816Gln	rs145464208	missense variant	-	NC_000001.11:g.81968135G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr818Met	rs374306241	missense variant	-	NC_000001.11:g.81968141C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr825Ile	rs1330546550	missense variant	-	NC_000001.11:g.81968162C>T	TOPMed
ADGRL2	O95490	p.Thr825Pro	rs937532470	missense variant	-	NC_000001.11:g.81968161A>C	TOPMed
ADGRL2	O95490	p.Asn826Ser	rs776616316	missense variant	-	NC_000001.11:g.81968165A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala828Thr	rs745910426	missense variant	-	NC_000001.11:g.81968170G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile829Val	rs768605517	missense variant	-	NC_000001.11:g.81968173A>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu830Arg	rs1412545427	missense variant	-	NC_000001.11:g.81968177T>G	TOPMed
ADGRL2	O95490	p.Ala832Ser	rs1336359857	missense variant	-	NC_000001.11:g.81968182G>T	gnomAD
ADGRL2	O95490	p.His833Tyr	rs1239875078	missense variant	-	NC_000001.11:g.81968185C>T	gnomAD
ADGRL2	O95490	p.Arg834Gly	rs774220540	missense variant	-	NC_000001.11:g.81968188A>G	ExAC,gnomAD
ADGRL2	O95490	p.Glu835Lys	rs1324770310	missense variant	-	NC_000001.11:g.81968191G>A	gnomAD
ADGRL2	O95490	p.Ile836Met	rs761605949	missense variant	-	NC_000001.11:g.81968196T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ala837Thr	rs1209408927	missense variant	-	NC_000001.11:g.81968197G>A	gnomAD
ADGRL2	O95490	p.Tyr838His	rs376619865	missense variant	-	NC_000001.11:g.81969178T>C	ESP
ADGRL2	O95490	p.Tyr838Cys	rs1253347555	missense variant	-	NC_000001.11:g.81969179A>G	gnomAD
ADGRL2	O95490	p.Lys839Glu	rs199597889	missense variant	-	NC_000001.11:g.81969181A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp840Tyr	rs1189334334	missense variant	-	NC_000001.11:g.81969184G>T	gnomAD
ADGRL2	O95490	p.Val842Ala	rs1479119215	missense variant	-	NC_000001.11:g.81969191T>C	gnomAD
ADGRL2	O95490	p.Val842Ile	rs137977766	missense variant	-	NC_000001.11:g.81969190G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His843Arg	rs1171880223	missense variant	-	NC_000001.11:g.81969194A>G	gnomAD
ADGRL2	O95490	p.Glu844Ala	rs1021670353	missense variant	-	NC_000001.11:g.81969197A>C	TOPMed
ADGRL2	O95490	p.Thr848Ile	rs968816039	missense variant	-	NC_000001.11:g.81969209C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Ile850Val	rs1326197345	missense variant	-	NC_000001.11:g.81969214A>G	gnomAD
ADGRL2	O95490	p.Thr851Ser	rs764906475	missense variant	-	NC_000001.11:g.81969217A>T	ExAC,gnomAD
ADGRL2	O95490	p.Thr851Asn	rs752223131	missense variant	-	NC_000001.11:g.81969218C>A	ExAC,gnomAD
ADGRL2	O95490	p.Val853Met	rs1220030732	missense variant	-	NC_000001.11:g.81969223G>A	TOPMed
ADGRL2	O95490	p.Ile855Phe	rs143972563	missense variant	-	NC_000001.11:g.81969229A>T	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Leu859Phe	rs141164723	missense variant	-	NC_000001.11:g.81969241C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val860Ile	rs567320115	missense variant	-	NC_000001.11:g.81969244G>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Cys861Ser	rs369954151	missense variant	-	NC_000001.11:g.81969248G>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Cys861Phe	rs369954151	missense variant	-	NC_000001.11:g.81969248G>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile864Val	rs780161057	missense variant	-	NC_000001.11:g.81969256A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Cys865Tyr	rs1197317758	missense variant	-	NC_000001.11:g.81969260G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Ile866Val	rs141036576	missense variant	-	NC_000001.11:g.81969262A>G	ESP,TOPMed,gnomAD
ADGRL2	O95490	p.Phe872Ser	rs1188242356	missense variant	-	NC_000001.11:g.81969281T>C	gnomAD
ADGRL2	O95490	p.Arg873Cys	rs777702018	missense variant	-	NC_000001.11:g.81969283C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg873His	rs576674053	missense variant	-	NC_000001.11:g.81969284G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu875Val	rs1419564993	missense variant	-	NC_000001.11:g.81969289C>G	gnomAD
ADGRL2	O95490	p.Gln876Arg	rs759301278	missense variant	-	NC_000001.11:g.81969293A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gln876His	rs1346197788	missense variant	-	NC_000001.11:g.81969294G>C	gnomAD
ADGRL2	O95490	p.Ser877Asn	rs377666964	missense variant	-	NC_000001.11:g.81969296G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg879Gln	rs373312947	missense variant	-	NC_000001.11:g.81969302G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr881Ala	rs762483041	missense variant	-	NC_000001.11:g.81969307A>G	ExAC,gnomAD
ADGRL2	O95490	p.His883Gln	rs752044178	missense variant	-	NC_000001.11:g.81969315C>G	ExAC,gnomAD
ADGRL2	O95490	p.Lys884Arg	rs536275045	missense variant	-	NC_000001.11:g.81969317A>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Leu886His	rs1317322825	missense variant	-	NC_000001.11:g.81969323T>A	gnomAD
ADGRL2	O95490	p.Leu890Ile	rs1169454079	missense variant	-	NC_000001.11:g.81969334C>A	TOPMed
ADGRL2	O95490	p.Ile892Thr	rs750768047	missense variant	-	NC_000001.11:g.81969341T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe895Leu	rs756354341	missense variant	-	NC_000001.11:g.81969349T>C	ExAC,gnomAD
ADGRL2	O95490	p.Phe895Cys	rs1358926563	missense variant	-	NC_000001.11:g.81969350T>G	TOPMed,gnomAD
ADGRL2	O95490	p.Phe895Leu	rs1487959978	missense variant	-	NC_000001.11:g.81969351T>G	gnomAD
ADGRL2	O95490	p.Ile896Val	rs147510948	missense variant	-	NC_000001.11:g.81969352A>G	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Phe897Ile	rs1185694970	missense variant	-	NC_000001.11:g.81969355T>A	TOPMed
ADGRL2	O95490	p.Leu898Pro	rs150031756	missense variant	-	NC_000001.11:g.81969359T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly900Val	rs778847227	missense variant	-	NC_000001.11:g.81969365G>T	ExAC,gnomAD
ADGRL2	O95490	p.Gly900Asp	rs778847227	missense variant	-	NC_000001.11:g.81969365G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile901Val	rs747034256	missense variant	-	NC_000001.11:g.81969367A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile901Thr	rs770742407	missense variant	-	NC_000001.11:g.81969368T>C	ExAC,gnomAD
ADGRL2	O95490	p.Asp902Glu	rs781181117	missense variant	-	NC_000001.11:g.81969372T>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala907Val	rs769598965	missense variant	-	NC_000001.11:g.81969386C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile908Met	rs201193024	missense variant	-	NC_000001.11:g.81970316T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile908Ser	rs781234266	missense variant	-	NC_000001.11:g.81970315T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ala909Val	rs374202661	missense variant	-	NC_000001.11:g.81970318C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile912Thr	rs1238007695	missense variant	-	NC_000001.11:g.81970327T>C	TOPMed
ADGRL2	O95490	p.Ile912Met	rs892772046	missense variant	-	NC_000001.11:g.81970328A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ala914Pro	rs1310241833	missense variant	-	NC_000001.11:g.81970332G>C	TOPMed
ADGRL2	O95490	p.His918Gln	rs779978389	missense variant	-	NC_000001.11:g.81970346C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe919Val	rs749032614	missense variant	-	NC_000001.11:g.81970347T>G	ExAC,gnomAD
ADGRL2	O95490	p.Phe920Leu	rs1196410606	missense variant	-	NC_000001.11:g.81970350T>C	gnomAD
ADGRL2	O95490	p.Phe920Leu	rs768158713	missense variant	-	NC_000001.11:g.81970352C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Phe921Ile	rs368282486	missense variant	-	NC_000001.11:g.81970353T>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala924Thr	rs1376426873	missense variant	-	NC_000001.11:g.81970362G>A	gnomAD
ADGRL2	O95490	p.Ala926Val	rs1478022145	missense variant	-	NC_000001.11:g.81970369C>T	gnomAD
ADGRL2	O95490	p.Met928Ile	rs200872583	missense variant	-	NC_000001.11:g.81970376G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Cys929Phe	rs947047129	missense variant	-	NC_000001.11:g.81970378G>T	TOPMed
ADGRL2	O95490	p.Leu930Ile	rs557212148	missense variant	-	NC_000001.11:g.81970380C>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Gly932Cys	rs900691021	missense variant	-	NC_000001.11:g.81970386G>T	TOPMed
ADGRL2	O95490	p.Gln934Lys	rs776830974	missense variant	-	NC_000001.11:g.81970392C>A	ExAC,gnomAD
ADGRL2	O95490	p.Tyr936Cys	rs759850927	missense variant	-	NC_000001.11:g.81970399A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu937Ile	rs1172622480	missense variant	-	NC_000001.11:g.81970401C>A	TOPMed
ADGRL2	O95490	p.Glu941Val	rs1325353849	missense variant	-	NC_000001.11:g.81970414A>T	gnomAD
ADGRL2	O95490	p.Ser945Asn	rs1329256798	missense variant	-	NC_000001.11:g.81970426G>A	gnomAD
ADGRL2	O95490	p.Glu946Val	rs1476800075	missense variant	-	NC_000001.11:g.81970429A>T	TOPMed
ADGRL2	O95490	p.Arg949Lys	rs1446392973	missense variant	-	NC_000001.11:g.81970438G>A	TOPMed
ADGRL2	O95490	p.Lys950Glu	rs1214612771	missense variant	-	NC_000001.11:g.81970440A>G	TOPMed
ADGRL2	O95490	p.Lys950Thr	rs758484253	missense variant	-	NC_000001.11:g.81970441A>C	ExAC,gnomAD
ADGRL2	O95490	p.Lys951Thr	rs767572804	missense variant	-	NC_000001.11:g.81970444A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Tyr952Asn	rs1257035314	missense variant	-	NC_000001.11:g.81970446T>A	TOPMed,gnomAD
ADGRL2	O95490	p.Tyr952Cys	rs1468695720	missense variant	-	NC_000001.11:g.81970447A>G	gnomAD
ADGRL2	O95490	p.Tyr954Cys	rs750440366	missense variant	-	NC_000001.11:g.81970453A>G	ExAC,gnomAD
ADGRL2	O95490	p.Val955Ile	rs756113269	missense variant	-	NC_000001.11:g.81970455G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly957Cys	rs1194558199	missense variant	-	NC_000001.11:g.81970461G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly957Asp	rs573957983	missense variant	-	NC_000001.11:g.81970462G>A	1000Genomes
ADGRL2	O95490	p.Phe960Leu	rs1170152459	missense variant	-	NC_000001.11:g.81970470T>C	gnomAD
ADGRL2	O95490	p.Val964Gly	rs1027918840	missense variant	-	NC_000001.11:g.81970483T>G	TOPMed
ADGRL2	O95490	p.Val965Ile	rs952372746	missense variant	-	NC_000001.11:g.81970485G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Gly966Val	rs1164753366	missense variant	-	NC_000001.11:g.81970489G>T	gnomAD
ADGRL2	O95490	p.Ala969Thr	rs1386101630	missense variant	-	NC_000001.11:g.81970497G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Tyr973Cys	rs770685951	missense variant	-	NC_000001.11:g.81970510A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Tyr973His	rs1276832768	missense variant	-	NC_000001.11:g.81970509T>C	TOPMed
ADGRL2	O95490	p.Thr978Ala	rs774188435	missense variant	-	NC_000001.11:g.81970524A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Lys980Glu	rs374706361	missense variant	-	NC_000001.11:g.81970530A>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala981Thr	rs778365141	missense variant	-	NC_000001.11:g.81970533G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ala981Val	rs747709793	missense variant	-	NC_000001.11:g.81970534C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu984Val	rs1198882685	missense variant	-	NC_000001.11:g.81971859C>G	gnomAD
ADGRL2	O95490	p.His985Arg	rs752414849	missense variant	-	NC_000001.11:g.81971863A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His985Leu	rs752414849	missense variant	-	NC_000001.11:g.81971863A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp987Gly	rs1040253104	missense variant	-	NC_000001.11:g.81971869A>G	TOPMed
ADGRL2	O95490	p.Asn988Asp	rs1381986658	missense variant	-	NC_000001.11:g.81971871A>G	gnomAD
ADGRL2	O95490	p.Tyr989Cys	rs746474008	missense variant	-	NC_000001.11:g.81971875A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile991Met	rs771459250	missense variant	-	NC_000001.11:g.81971882A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser993Arg	rs781482782	missense variant	-	NC_000001.11:g.81971886A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile995Leu	rs746256625	missense variant	-	NC_000001.11:g.81971892A>C	ExAC,gnomAD
ADGRL2	O95490	p.Ile995Thr	rs372672882	missense variant	-	NC_000001.11:g.81971893T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly996Val	rs762607724	missense variant	-	NC_000001.11:g.81971896G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly996Ala	rs762607724	missense variant	-	NC_000001.11:g.81971896G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr999Asn	rs377298321	missense variant	-	NC_000001.11:g.81971905C>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1003Val	rs768974699	missense variant	-	NC_000001.11:g.81971916C>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile1006Val	rs1172009560	missense variant	-	NC_000001.11:g.81979875A>G	TOPMed
ADGRL2	O95490	p.Ile1007Thr	rs1477082325	missense variant	-	NC_000001.11:g.81979879T>C	TOPMed
ADGRL2	O95490	p.Val1010Met	rs1379508714	missense variant	-	NC_000001.11:g.81979887G>A	TOPMed
ADGRL2	O95490	p.Cys1014Phe	rs1200770011	missense variant	-	NC_000001.11:g.81979900G>T	TOPMed
ADGRL2	O95490	p.Met1016Val	rs372969366	missense variant	-	NC_000001.11:g.81979905A>G	ESP,gnomAD
ADGRL2	O95490	p.Met1016Ile	rs1197761617	missense variant	-	NC_000001.11:g.81979907G>A	gnomAD
ADGRL2	O95490	p.Lys1018Arg	rs756610656	missense variant	-	NC_000001.11:g.81979912A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Lys1018Thr	rs756610656	missense variant	-	NC_000001.11:g.81979912A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1021Lys	rs1189425590	missense variant	-	NC_000001.11:g.81979922C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Leu1023Ser	rs1164222419	missense variant	-	NC_000001.11:g.81979927T>C	gnomAD
ADGRL2	O95490	p.Pro1025Thr	rs558150601	missense variant	-	NC_000001.11:g.81979932C>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1025Leu	rs1346503031	missense variant	-	NC_000001.11:g.81979933C>T	TOPMed
ADGRL2	O95490	p.Ser1027Cys	rs1477866800	missense variant	-	NC_000001.11:g.81979939C>G	gnomAD
ADGRL2	O95490	p.Ser1028Thr	rs748369948	missense variant	-	NC_000001.11:g.81979942G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1029Gly	rs772113763	missense variant	-	NC_000001.11:g.81979944A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile1033Val	rs759443053	missense variant	-	NC_000001.11:g.81979956A>G	ExAC,gnomAD
ADGRL2	O95490	p.Lys1034Arg	rs765173389	missense variant	-	NC_000001.11:g.81979960A>G	ExAC,gnomAD
ADGRL2	O95490	p.Trp1036Cys	rs1278333871	missense variant	-	NC_000001.11:g.81981814G>C	gnomAD
ADGRL2	O95490	p.Leu1038Ile	rs760143519	missense variant	-	NC_000001.11:g.81981818C>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly1039Arg	rs1216450318	missense variant	-	NC_000001.11:g.81981821G>C	gnomAD
ADGRL2	O95490	p.Ala1040Thr	rs1470284505	missense variant	-	NC_000001.11:g.81981824G>A	TOPMed
ADGRL2	O95490	p.Ala1042Thr	rs373385024	missense variant	-	NC_000001.11:g.81981830G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1043Ile	rs751875235	missense variant	-	NC_000001.11:g.81981833C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1043Phe	rs751875235	missense variant	-	NC_000001.11:g.81981833C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1044Val	rs757438572	missense variant	-	NC_000001.11:g.81981836C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1046Ile	rs541553847	missense variant	-	NC_000001.11:g.81981842C>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Leu1049Pro	rs1476941074	missense variant	-	NC_000001.11:g.81981852T>C	TOPMed,gnomAD
ADGRL2	O95490	p.Trp1051Leu	rs745894208	missense variant	-	NC_000001.11:g.81981858G>T	ExAC,gnomAD
ADGRL2	O95490	p.Gly1054Arg	rs1458223388	missense variant	-	NC_000001.11:g.81981866G>C	gnomAD
ADGRL2	O95490	p.Leu1056Phe	rs1388462679	missense variant	-	NC_000001.11:g.81981872C>T	gnomAD
ADGRL2	O95490	p.Ile1058Phe	rs778839893	missense variant	-	NC_000001.11:g.81981878A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1058Val	rs778839893	missense variant	-	NC_000001.11:g.81981878A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1059Ser	rs560086221	missense variant	-	NC_000001.11:g.81981882A>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Glu1060Gly	rs771971493	missense variant	-	NC_000001.11:g.81981885A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1063Val	rs1397691445	missense variant	-	NC_000001.11:g.81981893A>G	gnomAD
ADGRL2	O95490	p.Val1064Met	rs1294417972	missense variant	-	NC_000001.11:g.81981896G>A	gnomAD
ADGRL2	O95490	p.Met1065Thr	rs772856711	missense variant	-	NC_000001.11:g.81981900T>C	ExAC,gnomAD
ADGRL2	O95490	p.Met1065Val	rs1340494298	missense variant	-	NC_000001.11:g.81981899A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Ala1066Thr	rs574138761	missense variant	-	NC_000001.11:g.81981902G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala1066Val	rs1282839612	missense variant	-	NC_000001.11:g.81981903C>T	gnomAD
ADGRL2	O95490	p.Tyr1067Cys	rs770659493	missense variant	-	NC_000001.11:g.81981906A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ile1071Val	rs576653196	missense variant	-	NC_000001.11:g.81981917A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala1074Val	rs765677337	missense variant	-	NC_000001.11:g.81981927C>T	ExAC,gnomAD
ADGRL2	O95490	p.Gly1077Arg	rs776121970	missense variant	-	NC_000001.11:g.81981935G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile1080Val	rs763362240	missense variant	-	NC_000001.11:g.81981944A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1082Val	rs1425831703	missense variant	-	NC_000001.11:g.81981950A>G	gnomAD
ADGRL2	O95490	p.Phe1083Ile	rs1189323563	missense variant	-	NC_000001.11:g.81981953T>A	gnomAD
ADGRL2	O95490	p.Cys1085Tyr	rs1366531010	missense variant	-	NC_000001.11:g.81981960G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Ala1086Val	rs764559323	missense variant	-	NC_000001.11:g.81981963C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1087His	rs751844952	missense variant	-	NC_000001.11:g.81981966T>A	ExAC,gnomAD
ADGRL2	O95490	p.Lys1089Arg	rs1023662572	missense variant	-	NC_000001.11:g.81981972A>G	-
ADGRL2	O95490	p.Val1091Ile	rs550579592	missense variant	-	NC_000001.11:g.81984583G>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Arg1092Gln	rs767737569	missense variant	-	NC_000001.11:g.81984587G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly1096Asp	rs750714643	missense variant	-	NC_000001.11:g.81984599G>A	ExAC,gnomAD
ADGRL2	O95490	p.Cys1098Phe	rs1447977515	missense variant	-	NC_000001.11:g.81984605G>T	gnomAD
ADGRL2	O95490	p.Arg1100Lys	rs756300847	missense variant	-	NC_000001.11:g.81984611G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His1101Arg	rs1391355702	missense variant	-	NC_000001.11:g.81984614A>G	gnomAD
ADGRL2	O95490	p.His1101Tyr	rs766534631	missense variant	-	NC_000001.11:g.81984613C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1102Leu	rs1262524010	missense variant	-	NC_000001.11:g.81984617C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly1106Glu	rs1302013318	missense variant	-	NC_000001.11:g.81984629G>A	gnomAD
ADGRL2	O95490	p.Gly1107Ser	rs1314040188	missense variant	-	NC_000001.11:g.81984631G>A	gnomAD
ADGRL2	O95490	p.Leu1108Val	rs1262749329	missense variant	-	NC_000001.11:g.81984634C>G	gnomAD
ADGRL2	O95490	p.Thr1110Ala	rs758393417	missense variant	-	NC_000001.11:g.81984640A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1111Ala	rs1199013556	missense variant	-	NC_000001.11:g.81984644A>C	gnomAD
ADGRL2	O95490	p.Ser1112Asn	rs1239818162	missense variant	-	NC_000001.11:g.81984647G>A	gnomAD
ADGRL2	O95490	p.Pro1113Leu	rs138480989	missense variant	-	NC_000001.11:g.81984650C>T	ESP,TOPMed,gnomAD
ADGRL2	O95490	p.His1114Gln	rs777505441	missense variant	-	NC_000001.11:g.81984654C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His1114Gln	rs777505441	missense variant	-	NC_000001.11:g.81984654C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1121Ala	rs1413631544	missense variant	-	NC_000001.11:g.81984673A>G	gnomAD
ADGRL2	O95490	p.Thr1122Ile	rs1200046628	missense variant	-	NC_000001.11:g.81984677C>T	TOPMed
ADGRL2	O95490	p.Thr1124Ser	rs745554138	missense variant	-	NC_000001.11:g.81984683C>G	ExAC,gnomAD
ADGRL2	O95490	p.Thr1124Ala	rs1360595913	missense variant	-	NC_000001.11:g.81984682A>G	gnomAD
ADGRL2	O95490	p.Arg1127Cys	rs775087345	missense variant	-	NC_000001.11:g.81984691C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg1127His	rs748702474	missense variant	-	NC_000001.11:g.81984692G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Tyr1128Ser	rs1385145668	missense variant	-	NC_000001.11:g.81984695A>C	TOPMed,gnomAD
ADGRL2	O95490	p.Ser1129Tyr	rs143415657	missense variant	-	NC_000001.11:g.81984698C>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1130Cys	rs1341324062	missense variant	-	NC_000001.11:g.81984701C>G	gnomAD
ADGRL2	O95490	p.Gly1131Ala	rs866223450	missense variant	-	NC_000001.11:g.81984704G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Thr1132Ser	rs370572677	missense variant	-	NC_000001.11:g.81984706A>T	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Ser1134Thr	rs1244228355	missense variant	-	NC_000001.11:g.81985260G>C	TOPMed
ADGRL2	O95490	p.Ser1134Arg	rs1215985236	missense variant	-	NC_000001.11:g.81985261T>G	TOPMed
ADGRL2	O95490	p.Arg1135His	rs779502306	missense variant	-	NC_000001.11:g.81985263G>A	ExAC,gnomAD
ADGRL2	O95490	p.Arg1135Cys	rs1014195159	missense variant	-	NC_000001.11:g.81985262C>T	TOPMed
ADGRL2	O95490	p.Arg1138Ile	rs1220194544	missense variant	-	NC_000001.11:g.81985272G>T	gnomAD
ADGRL2	O95490	p.Ser1148Leu	rs1488334868	missense variant	-	NC_000001.11:g.81985302C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Ser1151Tyr	rs1485370132	missense variant	-	NC_000001.11:g.81985311C>A	gnomAD
ADGRL2	O95490	p.Ser1151Phe	rs1485370132	missense variant	-	NC_000001.11:g.81985311C>T	gnomAD
ADGRL2	O95490	p.Phe1152Val	rs868449264	missense variant	-	NC_000001.11:g.81985313T>G	TOPMed,gnomAD
ADGRL2	O95490	p.Gly1155Ser	rs1363767412	missense variant	-	NC_000001.11:g.81985322G>A	TOPMed
ADGRL2	O95490	p.Asp1156Ala	rs150658580	missense variant	-	NC_000001.11:g.81985326A>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1158Ser	rs772523265	missense variant	-	NC_000001.11:g.81985332A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ser1159Asn	rs752470806	missense variant	-	NC_000001.11:g.81985335G>A	gnomAD
ADGRL2	O95490	p.Thr1162Pro	rs760883063	missense variant	-	NC_000001.11:g.81985343A>C	ExAC,gnomAD
ADGRL2	O95490	p.Leu1163Phe	rs771198606	missense variant	-	NC_000001.11:g.81985346C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1163Val	rs771198606	missense variant	-	NC_000001.11:g.81985346C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1164Ser	rs776777925	missense variant	-	NC_000001.11:g.81985350A>G	ExAC,gnomAD
ADGRL2	O95490	p.Met1167Ile	rs560996903	missense variant	-	NC_000001.11:g.81986905G>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Met1167Thr	rs763056264	missense variant	-	NC_000001.11:g.81986904T>C	ExAC,gnomAD
ADGRL2	O95490	p.Thr1168Ser	rs1469522783	missense variant	-	NC_000001.11:g.81986906A>T	gnomAD
ADGRL2	O95490	p.Gly1169Ala	rs1175399844	missense variant	-	NC_000001.11:g.81986910G>C	gnomAD
ADGRL2	O95490	p.Asn1170Ser	rs375625734	missense variant	-	NC_000001.11:g.81986913A>G	ESP,ExAC
ADGRL2	O95490	p.Leu1173Pro	rs1238678092	missense variant	-	NC_000001.11:g.81986922T>C	TOPMed
ADGRL2	O95490	p.Asn1175Ser	rs766139223	missense variant	-	NC_000001.11:g.81986928A>G	ExAC
ADGRL2	O95490	p.Pro1176Thr	rs753623324	missense variant	-	NC_000001.11:g.81986930C>A	ExAC,gnomAD
ADGRL2	O95490	p.Leu1177Ile	rs899223963	missense variant	-	NC_000001.11:g.81986933C>A	TOPMed
ADGRL2	O95490	p.Arg1179Ter	rs754660598	stop gained	-	NC_000001.11:g.81986939C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg1179Gln	rs764807610	missense variant	-	NC_000001.11:g.81986940G>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro1180Thr	rs752216664	missense variant	-	NC_000001.11:g.81986942C>A	ExAC
ADGRL2	O95490	p.His1181Leu	rs1343219457	missense variant	-	NC_000001.11:g.81986946A>T	TOPMed,gnomAD
ADGRL2	O95490	p.His1181Arg	rs1343219457	missense variant	-	NC_000001.11:g.81986946A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Thr1183Ala	rs777333460	missense variant	-	NC_000001.11:g.81986951A>G	ExAC,gnomAD
ADGRL2	O95490	p.Pro1186His	rs1341916395	missense variant	-	NC_000001.11:g.81986961C>A	gnomAD
ADGRL2	O95490	p.Ala1192Thr	rs781431355	missense variant	-	NC_000001.11:g.81986978G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala1192Ser	rs781431355	missense variant	-	NC_000001.11:g.81986978G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1194Ala	rs1260429946	missense variant	-	NC_000001.11:g.81986984A>G	TOPMed
ADGRL2	O95490	p.Thr1194Ile	rs1452747238	missense variant	-	NC_000001.11:g.81986985C>T	TOPMed,gnomAD
ADGRL2	O95490	p.Val1196Leu	rs1373580693	missense variant	-	NC_000001.11:g.81986990G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Asn1198Ser	rs188777224	missense variant	-	NC_000001.11:g.81986997A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ala1199Asp	rs770144606	missense variant	-	NC_000001.11:g.81987000C>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser1201Leu	rs775792286	missense variant	-	NC_000001.11:g.81987006C>T	ExAC,gnomAD
ADGRL2	O95490	p.Ala1202Pro	rs749505051	missense variant	-	NC_000001.11:g.81987008G>C	ExAC,gnomAD
ADGRL2	O95490	p.Val1204Leu	rs763740090	missense variant	-	NC_000001.11:g.81987014G>C	gnomAD
ADGRL2	O95490	p.Val1204Leu	rs763740090	missense variant	-	NC_000001.11:g.81987014G>T	gnomAD
ADGRL2	O95490	p.Asn1206His	rs546241850	missense variant	-	NC_000001.11:g.81987020A>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asn1206Lys	rs1304389661	missense variant	-	NC_000001.11:g.81987022C>G	TOPMed,gnomAD
ADGRL2	O95490	p.Pro1208Gln	rs746400400	missense variant	-	NC_000001.11:g.81987027C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1208Ser	rs1383781167	missense variant	-	NC_000001.11:g.81987026C>T	TOPMed
ADGRL2	O95490	p.Gly1209Glu	rs969053627	missense variant	-	NC_000001.11:g.81990391G>A	-
ADGRL2	O95490	p.Leu1212Pro	rs1183018579	missense variant	-	NC_000001.11:g.81990400T>C	gnomAD
ADGRL2	O95490	p.Arg1216Lys	rs1402606615	missense variant	-	NC_000001.11:g.81990412G>A	gnomAD
ADGRL2	O95490	p.Arg1216Gly	rs200393771	missense variant	-	NC_000001.11:g.81990411A>G	1000Genomes
ADGRL2	O95490	p.Arg1216Met	rs1402606615	missense variant	-	NC_000001.11:g.81990412G>T	gnomAD
ADGRL2	O95490	p.Arg1216Ser	rs764231254	missense variant	-	NC_000001.11:g.81990413G>T	ExAC,gnomAD
ADGRL2	O95490	p.Asp1217Glu	rs1344897848	missense variant	-	NC_000001.11:g.81990416T>G	gnomAD
ADGRL2	O95490	p.Ala1220Pro	rs72719419	missense variant	-	NC_000001.11:g.81990423G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Met1221Val	rs749286701	missense variant	-	NC_000001.11:g.81990426A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp1222Asn	rs754847382	missense variant	-	NC_000001.11:g.81990429G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1222Tyr	rs754847382	missense variant	-	NC_000001.11:g.81990429G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1223Ile	rs778788827	missense variant	-	NC_000001.11:g.81990433C>T	ExAC,gnomAD
ADGRL2	O95490	p.Pro1225Leu	rs143139172	missense variant	-	NC_000001.11:g.81990439C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1226Ile	rs746655027	missense variant	-	NC_000001.11:g.81990441C>A	ExAC,gnomAD
ADGRL2	O95490	p.Asn1232Asp	rs1204682680	missense variant	-	NC_000001.11:g.81990459A>G	gnomAD
ADGRL2	O95490	p.Ser1233Gly	rs760114423	missense variant	-	NC_000001.11:g.81990462A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1233Asn	rs765624220	missense variant	-	NC_000001.11:g.81990463G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ser1235Leu	rs779274576	missense variant	-	NC_000001.11:g.81990469C>T	ExAC,gnomAD
ADGRL2	O95490	p.Lys1238Arg	rs764425371	missense variant	-	NC_000001.11:g.81990478A>G	ExAC,gnomAD
ADGRL2	O95490	p.Lys1238Asn	rs372665040	missense variant	-	NC_000001.11:g.81990479G>C	ESP,ExAC,gnomAD
ADGRL2	O95490	p.Gly1239Val	rs143448377	missense variant	-	NC_000001.11:g.81990481G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1240Asn	rs1234663194	missense variant	-	NC_000001.11:g.81990483G>A	TOPMed
ADGRL2	O95490	p.Tyr1241Cys	rs1205396115	missense variant	-	NC_000001.11:g.81990487A>G	TOPMed
ADGRL2	O95490	p.Asn1242Ser	rs1333422337	missense variant	-	NC_000001.11:g.81990490A>G	gnomAD
ADGRL2	O95490	p.Asp1243Glu	rs750420668	missense variant	-	NC_000001.11:g.81990494C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1243Glu	rs750420668	missense variant	-	NC_000001.11:g.81990494C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1244Asn	rs1006870973	missense variant	-	NC_000001.11:g.81990496G>A	TOPMed,gnomAD
ADGRL2	O95490	p.Val1245Met	rs138336807	missense variant	-	NC_000001.11:g.81990498G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val1248Ala	rs1389306587	missense variant	-	NC_000001.11:g.81990508T>C	TOPMed
ADGRL2	O95490	p.Val1248Met	rs758334969	missense variant	-	NC_000001.11:g.81990507G>A	ExAC,gnomAD
ADGRL2	O95490	p.Cys1250Arg	rs563957003	missense variant	-	NC_000001.11:g.81990513T>C	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Leu1252Pro	rs371147332	missense variant	-	NC_000001.11:g.81990520T>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1253Thr	rs1023460050	missense variant	-	NC_000001.11:g.81990523G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Leu1254Met	rs144340670	missense variant	-	NC_000001.11:g.81990525C>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1255Ser	rs780787341	missense variant	-	NC_000001.11:g.81990529A>G	ExAC,gnomAD
ADGRL2	O95490	p.Asp1256Ala	rs745306062	missense variant	-	NC_000001.11:g.81990532A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1257Asn	rs770344370	missense variant	-	NC_000001.11:g.81990535C>A	ExAC,gnomAD
ADGRL2	O95490	p.Phe1259Leu	rs775916129	missense variant	-	NC_000001.11:g.81990542T>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1260Asp	rs1479324481	missense variant	-	NC_000001.11:g.81990545G>T	gnomAD
ADGRL2	O95490	p.Ile1263Phe	rs769048815	missense variant	-	NC_000001.11:g.81990552A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1263Met	rs1326228260	missense variant	-	NC_000001.11:g.81990554C>G	gnomAD
ADGRL2	O95490	p.Ile1263Val	rs769048815	missense variant	-	NC_000001.11:g.81990552A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1263Asn	rs774675797	missense variant	-	NC_000001.11:g.81990553T>A	ExAC,gnomAD
ADGRL2	O95490	p.His1269Gln	rs1405109044	missense variant	-	NC_000001.11:g.81990572C>G	gnomAD
ADGRL2	O95490	p.Asn1270Lys	rs1232962173	missense variant	-	NC_000001.11:g.81990575C>A	TOPMed,gnomAD
ADGRL2	O95490	p.Asn1270Ser	rs767592229	missense variant	-	NC_000001.11:g.81990574A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1270Asp	rs762043588	missense variant	-	NC_000001.11:g.81990573A>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu1272Phe	rs1258495502	missense variant	-	NC_000001.11:g.81990581A>C	TOPMed,gnomAD
ADGRL2	O95490	p.Leu1272Phe	rs1258495502	missense variant	-	NC_000001.11:g.81990581A>T	TOPMed,gnomAD
ADGRL2	O95490	p.Arg1273Trp	rs748402076	missense variant	-	NC_000001.11:g.81990582C>T	gnomAD
ADGRL2	O95490	p.Arg1273Gln	rs760725709	missense variant	-	NC_000001.11:g.81990583G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1275Asn	rs766477471	missense variant	-	NC_000001.11:g.81990589G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1275Thr	rs766477471	missense variant	-	NC_000001.11:g.81990589G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1276Asn	rs200002945	missense variant	-	NC_000001.11:g.81990592G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Lys1277Gln	rs141518056	missense variant	-	NC_000001.11:g.81990594A>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His1279Tyr	rs1490258060	missense variant	-	NC_000001.11:g.81990600C>T	TOPMed,gnomAD
ADGRL2	O95490	p.His1279Asn	rs1490258060	missense variant	-	NC_000001.11:g.81990600C>A	TOPMed,gnomAD
ADGRL2	O95490	p.Asn1280Ser	rs751362791	missense variant	-	NC_000001.11:g.81990604A>G	ExAC,gnomAD
ADGRL2	O95490	p.Glu1282Lys	rs199665935	missense variant	-	NC_000001.11:g.81990609G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1283Pro	rs1166094225	missense variant	-	NC_000001.11:g.81990613T>C	TOPMed,gnomAD
ADGRL2	O95490	p.Thr1284Met	rs543214214	missense variant	-	NC_000001.11:g.81990616C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1284Arg	rs543214214	missense variant	-	NC_000001.11:g.81990616C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1285Val	rs779581570	missense variant	-	NC_000001.11:g.81990618C>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu1285Pro	rs769101989	missense variant	-	NC_000001.11:g.81990619T>C	ExAC,gnomAD
ADGRL2	O95490	p.Pro1286Leu	rs774727340	missense variant	-	NC_000001.11:g.81990622C>T	ExAC,gnomAD
ADGRL2	O95490	p.Val1287Ile	rs146536254	missense variant	-	NC_000001.11:g.81990624G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Val1287Gly	rs772473565	missense variant	-	NC_000001.11:g.81990625T>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1289Ser	rs755347765	missense variant	-	NC_000001.11:g.81990630C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1289His	rs760920783	missense variant	-	NC_000001.11:g.81990631C>A	ExAC,gnomAD
ADGRL2	O95490	p.Ile1291Thr	rs1360850462	missense variant	-	NC_000001.11:g.81990637T>C	gnomAD
ADGRL2	O95490	p.Gly1292Arg	rs781779072	missense variant	-	NC_000001.11:g.81990639G>A	TOPMed
ADGRL2	O95490	p.Gly1293Asp	rs1248221552	missense variant	-	NC_000001.11:g.81990643G>A	gnomAD
ADGRL2	O95490	p.Ser1295Gly	rs146227933	missense variant	-	NC_000001.11:g.81990648A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1296Arg	rs763017818	missense variant	-	NC_000001.11:g.81990651A>C	ExAC,gnomAD
ADGRL2	O95490	p.Asp1298Asn	rs200383050	missense variant	-	NC_000001.11:g.81990657G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1299Gly	rs757054945	missense variant	-	NC_000001.11:g.81990661A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1299Asn	rs751411562	missense variant	-	NC_000001.11:g.81990660G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ala1300Asp	rs1374001060	missense variant	-	NC_000001.11:g.81990664C>A	gnomAD
ADGRL2	O95490	p.Ile1301Phe	rs372364797	missense variant	-	NC_000001.11:g.81990666A>T	ExAC,gnomAD
ADGRL2	O95490	p.Ile1301Thr	rs779451501	missense variant	-	NC_000001.11:g.81990667T>C	ExAC,gnomAD
ADGRL2	O95490	p.Ile1301Val	rs372364797	missense variant	-	NC_000001.11:g.81990666A>G	ExAC,gnomAD
ADGRL2	O95490	p.Val1302Met	rs748755054	missense variant	-	NC_000001.11:g.81990669G>A	ExAC,gnomAD
ADGRL2	O95490	p.Ala1303Thr	rs1457035805	missense variant	-	NC_000001.11:g.81990672G>A	gnomAD
ADGRL2	O95490	p.Asp1304Glu	rs539592390	missense variant	-	NC_000001.11:g.81990677T>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asp1304His	rs779456032	missense variant	-	NC_000001.11:g.81990675G>C	ExAC,gnomAD
ADGRL2	O95490	p.Met1309Thr	rs772363344	missense variant	-	NC_000001.11:g.81990691T>C	ExAC,gnomAD
ADGRL2	O95490	p.Met1309Arg	rs772363344	missense variant	-	NC_000001.11:g.81990691T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ser1311Asn	rs139191087	missense variant	-	NC_000001.11:g.81990697G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1312Asn	rs200831885	missense variant	-	NC_000001.11:g.81990699G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1312Tyr	rs200831885	missense variant	-	NC_000001.11:g.81990699G>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1314Thr	rs759634154	missense variant	-	NC_000001.11:g.81990705C>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro1314Arg	rs146977928	missense variant	-	NC_000001.11:g.81990706C>G	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1316Gln	rs1039719171	missense variant	-	NC_000001.11:g.81990712T>A	gnomAD
ADGRL2	O95490	p.Leu1318Phe	rs1206554960	missense variant	-	NC_000001.11:g.81990717C>T	gnomAD
ADGRL2	O95490	p.His1319Gln	rs774493758	missense variant	-	NC_000001.11:g.81990722T>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.His1319Arg	rs1461667253	missense variant	-	NC_000001.11:g.81990721A>G	gnomAD
ADGRL2	O95490	p.Glu1324Lys	rs149473672	missense variant	-	NC_000001.11:g.81990735G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1326Leu	rs767261031	missense variant	-	NC_000001.11:g.81990742C>T	ExAC,gnomAD
ADGRL2	O95490	p.Leu1327Val	rs368144102	missense variant	-	NC_000001.11:g.81990744C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1327Arg	rs572100788	missense variant	-	NC_000001.11:g.81990745T>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Ile1328Thr	rs148181687	missense variant	-	NC_000001.11:g.81990748T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Pro1329Ser	rs1407320434	missense variant	-	NC_000001.11:g.81990750C>T	gnomAD
ADGRL2	O95490	p.Pro1329Leu	rs753357765	missense variant	-	NC_000001.11:g.81990751C>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg1331Trp	rs754550411	missense variant	-	NC_000001.11:g.81990756C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1331Gln	rs748651558	missense variant	-	NC_000001.11:g.81990757G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Thr1332Ala	rs1392017771	missense variant	-	NC_000001.11:g.81990759A>G	gnomAD
ADGRL2	O95490	p.Thr1332Ile	rs908772575	missense variant	-	NC_000001.11:g.81990760C>T	TOPMed
ADGRL2	O95490	p.Ser1334Tyr	rs758893309	missense variant	-	NC_000001.11:g.81990766C>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1334Cys	rs758893309	missense variant	-	NC_000001.11:g.81990766C>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1334Phe	rs758893309	missense variant	-	NC_000001.11:g.81990766C>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln1338Ter	rs181422749	stop gained	-	NC_000001.11:g.81990777C>T	1000Genomes
ADGRL2	O95490	p.Gln1340Leu	rs1287413848	missense variant	-	NC_000001.11:g.81990784A>T	TOPMed,gnomAD
ADGRL2	O95490	p.Lys1342Thr	rs1470354879	missense variant	-	NC_000001.11:g.81990790A>C	TOPMed
ADGRL2	O95490	p.Ser1345Thr	rs144339910	missense variant	-	NC_000001.11:g.81990798T>A	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Glu1346Lys	rs148763084	missense variant	-	NC_000001.11:g.81990801G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly1347Arg	rs761678542	missense variant	-	NC_000001.11:g.81990804G>A	ExAC,gnomAD
ADGRL2	O95490	p.Gly1347Glu	rs767448584	missense variant	-	NC_000001.11:g.81990805G>A	ExAC,gnomAD
ADGRL2	O95490	p.Tyr1351Cys	rs74098542	missense variant	-	NC_000001.11:g.81990817A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1353Pro	rs1181019610	missense variant	-	NC_000001.11:g.81990822T>C	gnomAD
ADGRL2	O95490	p.Thr1356Ile	rs370132224	missense variant	-	NC_000001.11:g.81990832C>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1358Asp	rs1052237300	missense variant	-	NC_000001.11:g.81990839G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Glu1358Gly	rs753531368	missense variant	-	NC_000001.11:g.81990838A>G	ExAC,gnomAD
ADGRL2	O95490	p.Ala1359Ser	rs759167525	missense variant	-	NC_000001.11:g.81990840G>T	ExAC,gnomAD
ADGRL2	O95490	p.Asp1361Glu	rs752214205	missense variant	-	NC_000001.11:g.81990848T>A	ExAC
ADGRL2	O95490	p.Leu1363Arg	rs758837991	missense variant	-	NC_000001.11:g.81990853T>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Leu1363Pro	rs758837991	missense variant	-	NC_000001.11:g.81990853T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gln1364Glu	rs1394425538	missense variant	-	NC_000001.11:g.81990855C>G	gnomAD
ADGRL2	O95490	p.Gln1364Arg	rs1409358853	missense variant	-	NC_000001.11:g.81990856A>G	gnomAD
ADGRL2	O95490	p.Asn1367Ile	rs751999103	missense variant	-	NC_000001.11:g.81990865A>T	ExAC,gnomAD
ADGRL2	O95490	p.Arg1368Lys	rs1347671592	missense variant	-	NC_000001.11:g.81990868G>A	gnomAD
ADGRL2	O95490	p.Asp1369Glu	rs374881882	missense variant	-	NC_000001.11:g.81990872C>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1369Gly	rs879518049	missense variant	-	NC_000001.11:g.81990871A>G	gnomAD
ADGRL2	O95490	p.Ser1370Phe	rs746137263	missense variant	-	NC_000001.11:g.81990874C>T	ExAC,gnomAD
ADGRL2	O95490	p.Ser1370Cys	rs746137263	missense variant	-	NC_000001.11:g.81990874C>G	ExAC,gnomAD
ADGRL2	O95490	p.Leu1371Val	rs1252489574	missense variant	-	NC_000001.11:g.81990876C>G	gnomAD
ADGRL2	O95490	p.Met1375Ile	rs1314069626	missense variant	-	NC_000001.11:g.81990890G>A	TOPMed
ADGRL2	O95490	p.Pro1376Ser	rs200003266	missense variant	-	NC_000001.11:g.81990891C>T	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Asn1377Asp	rs1269130766	missense variant	-	NC_000001.11:g.81990894A>G	gnomAD
ADGRL2	O95490	p.Asn1377Ser	rs1490750593	missense variant	-	NC_000001.11:g.81990895A>G	gnomAD
ADGRL2	O95490	p.Arg1379Lys	rs41292984	missense variant	-	NC_000001.11:g.81990901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1380His	rs760499936	missense variant	-	NC_000001.11:g.81990903G>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1380Gly	rs1166288878	missense variant	-	NC_000001.11:g.81990904A>G	TOPMed
ADGRL2	O95490	p.Ser1381Phe	rs1374192500	missense variant	-	NC_000001.11:g.81990907C>T	TOPMed
ADGRL2	O95490	p.Ser1381Pro	rs1463977902	missense variant	-	NC_000001.11:g.81990906T>C	TOPMed
ADGRL2	O95490	p.Tyr1383His	rs1388921735	missense variant	-	NC_000001.11:g.81990912T>C	gnomAD
ADGRL2	O95490	p.Pro1384Leu	rs560319132	missense variant	-	NC_000001.11:g.81990916C>T	ExAC,gnomAD
ADGRL2	O95490	p.Pro1384Ala	rs142267708	missense variant	-	NC_000001.11:g.81990915C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1385Gln	rs372358222	missense variant	-	NC_000001.11:g.81990918G>C	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ser1386Arg	rs116188578	missense variant	-	NC_000001.11:g.81990923C>G	1000Genomes,ExAC,gnomAD
ADGRL2	O95490	p.Met1390Arg	rs763504983	missense variant	-	NC_000001.11:g.81990934T>G	ExAC,gnomAD
ADGRL2	O95490	p.Ser1395Cys	rs1297625055	missense variant	-	NC_000001.11:g.81990949C>G	gnomAD
ADGRL2	O95490	p.Arg1398Lys	rs375600667	missense variant	-	NC_000001.11:g.81990958G>A	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1399Gly	rs372620044	missense variant	-	NC_000001.11:g.81990960A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1399Ser	rs1377405426	missense variant	-	NC_000001.11:g.81990962G>C	TOPMed,gnomAD
ADGRL2	O95490	p.Glu1401Asp	rs368321332	missense variant	-	NC_000001.11:g.81990968G>T	ESP,ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asn1402Lys	rs1339968109	missense variant	-	NC_000001.11:g.81990971T>G	TOPMed
ADGRL2	O95490	p.Asp1404Glu	rs933954488	missense variant	-	NC_000001.11:g.81990977C>A	TOPMed
ADGRL2	O95490	p.Ile1405Leu	rs780263616	missense variant	-	NC_000001.11:g.81990978A>C	ExAC,gnomAD
ADGRL2	O95490	p.Tyr1406Phe	rs749455861	missense variant	-	NC_000001.11:g.81990982A>T	ExAC,gnomAD
ADGRL2	O95490	p.Lys1408Gln	rs1246694594	missense variant	-	NC_000001.11:g.81990987A>C	gnomAD
ADGRL2	O95490	p.Met1410Leu	rs768822485	missense variant	-	NC_000001.11:g.81990993A>T	ExAC,gnomAD
ADGRL2	O95490	p.Pro1411Ser	rs778837358	missense variant	-	NC_000001.11:g.81990996C>T	ExAC,gnomAD
ADGRL2	O95490	p.Leu1413Val	rs1387173688	missense variant	-	NC_000001.11:g.81991002C>G	gnomAD
ADGRL2	O95490	p.Leu1413Pro	rs1403746832	missense variant	-	NC_000001.11:g.81991003T>C	gnomAD
ADGRL2	O95490	p.Ala1415Ser	rs770815631	missense variant	-	NC_000001.11:g.81991008G>T	ExAC,gnomAD
ADGRL2	O95490	p.His1417Tyr	rs1454103691	missense variant	-	NC_000001.11:g.81991014C>T	gnomAD
ADGRL2	O95490	p.Leu1419Phe	rs917573208	missense variant	-	NC_000001.11:g.81991020C>T	TOPMed
ADGRL2	O95490	p.Met1421Leu	rs1362896321	missense variant	-	NC_000001.11:g.81991026A>C	TOPMed,gnomAD
ADGRL2	O95490	p.Tyr1423His	rs200071320	missense variant	-	NC_000001.11:g.81991032T>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Ile1425Val	rs762479828	missense variant	-	NC_000001.11:g.81991038A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gly1428Ser	rs1449010869	missense variant	-	NC_000001.11:g.81991047G>A	TOPMed
ADGRL2	O95490	p.Ser1430Asn	rs763706882	missense variant	-	NC_000001.11:g.81991054G>A	ExAC,TOPMed
ADGRL2	O95490	p.Asp1431Asn	rs773682494	missense variant	-	NC_000001.11:g.81991056G>A	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Asp1431Tyr	rs773682494	missense variant	-	NC_000001.11:g.81991056G>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Gly1432Val	rs1317184327	missense variant	-	NC_000001.11:g.81991060G>T	gnomAD
ADGRL2	O95490	p.Ile1434Val	rs746832360	missense variant	-	NC_000001.11:g.81991065A>G	TOPMed,gnomAD
ADGRL2	O95490	p.Asn1438Thr	rs750830777	missense variant	-	NC_000001.11:g.81991078A>C	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1440Gly	rs1181409915	missense variant	-	NC_000001.11:g.81991084A>G	gnomAD
ADGRL2	O95490	p.Gly1441Trp	rs766646868	missense variant	-	NC_000001.11:g.81991086G>T	ExAC,gnomAD
ADGRL2	O95490	p.Gly1441Val	rs1421142641	missense variant	-	NC_000001.11:g.81991087G>T	gnomAD
ADGRL2	O95490	p.Gly1441Arg	rs766646868	missense variant	-	NC_000001.11:g.81991086G>A	ExAC,gnomAD
ADGRL2	O95490	p.Pro1444Ser	rs754139691	missense variant	-	NC_000001.11:g.81991095C>T	ExAC,gnomAD
ADGRL2	O95490	p.Gly1446Val	rs1337295727	missense variant	-	NC_000001.11:g.81991102G>T	TOPMed,gnomAD
ADGRL2	O95490	p.Gly1446Arg	rs1456580569	missense variant	-	NC_000001.11:g.81991101G>A	gnomAD
ADGRL2	O95490	p.Asp1447Asn	rs779081104	missense variant	-	NC_000001.11:g.81991104G>A	ExAC,gnomAD
ADGRL2	O95490	p.Asp1447Gly	rs748160288	missense variant	-	NC_000001.11:g.81991105A>G	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Arg1449Ser	rs757203865	missense variant	-	NC_000001.11:g.81991112A>T	ExAC,TOPMed,gnomAD
ADGRL2	O95490	p.Glu1450Gly	rs781166318	missense variant	-	NC_000001.11:g.81991114A>G	ExAC,gnomAD
ADGRL2	O95490	p.Gly1451Ala	rs745804070	missense variant	-	NC_000001.11:g.81991117G>C	ExAC,gnomAD
ADGRL2	O95490	p.Met1453Arg	rs775122775	missense variant	-	NC_000001.11:g.81991123T>G	ExAC,gnomAD
ADGRL2	O95490	p.Met1453Ile	rs936426168	missense variant	-	NC_000001.11:g.81991124G>A	TOPMed
ADGRL2	O95490	p.Gln1454Glu	rs1183284624	missense variant	-	NC_000001.11:g.81991125C>G	TOPMed
ADGRL2	O95490	p.Gln1454His	rs1437932644	missense variant	-	NC_000001.11:g.81991127G>T	TOPMed
ADGRL2	O95490	p.Val1456Ala	rs1441236243	missense variant	-	NC_000001.11:g.81991132T>C	gnomAD
ADGRL2	O95490	p.Val1456Ile	rs748987684	missense variant	-	NC_000001.11:g.81991131G>A	ExAC,gnomAD
NTN1	O95631	p.Met2Ile	rs1487156376	missense variant	-	NC_000017.11:g.9022379G>T	TOPMed
NTN1	O95631	p.Arg3Leu	rs951076846	missense variant	-	NC_000017.11:g.9022381G>T	TOPMed
NTN1	O95631	p.Ala4Thr	rs1204652345	missense variant	-	NC_000017.11:g.9022383G>A	TOPMed,gnomAD
NTN1	O95631	p.Ala4Ser	rs1204652345	missense variant	-	NC_000017.11:g.9022383G>T	TOPMed,gnomAD
NTN1	O95631	p.Ala4Val	rs1345968008	missense variant	-	NC_000017.11:g.9022384C>T	TOPMed
NTN1	O95631	p.Glu7Ala	rs895460822	missense variant	-	NC_000017.11:g.9022393A>C	TOPMed
NTN1	O95631	p.Ala8Thr	rs1402269691	missense variant	-	NC_000017.11:g.9022395G>A	TOPMed
NTN1	O95631	p.Ala8Val	rs1044181487	missense variant	-	NC_000017.11:g.9022396C>T	TOPMed
NTN1	O95631	p.Ala14Val	rs1414739346	missense variant	-	NC_000017.11:g.9022414C>T	TOPMed
NTN1	O95631	p.Ala16Gly	rs770519483	missense variant	-	NC_000017.11:g.9022420C>G	ExAC,gnomAD
NTN1	O95631	p.Ala21Ser	rs904264101	missense variant	-	NC_000017.11:g.9022434G>T	TOPMed,gnomAD
NTN1	O95631	p.Ala21Thr	rs904264101	missense variant	-	NC_000017.11:g.9022434G>A	TOPMed,gnomAD
NTN1	O95631	p.Gly25Trp	rs774092955	missense variant	-	NC_000017.11:g.9022446G>T	ExAC,gnomAD
NTN1	O95631	p.Pro26Thr	rs1474365383	missense variant	-	NC_000017.11:g.9022449C>A	TOPMed
NTN1	O95631	p.Gly27Arg	rs928391967	missense variant	-	NC_000017.11:g.9022452G>A	gnomAD
NTN1	O95631	p.Gly27Arg	rs928391967	missense variant	-	NC_000017.11:g.9022452G>C	gnomAD
NTN1	O95631	p.Ser29Asn	rs1354353462	missense variant	-	NC_000017.11:g.9022459G>A	TOPMed,gnomAD
NTN1	O95631	p.Ser29Ile	rs1354353462	missense variant	-	NC_000017.11:g.9022459G>T	TOPMed,gnomAD
NTN1	O95631	p.Met30Leu	rs1201889936	missense variant	-	NC_000017.11:g.9022461A>C	TOPMed
NTN1	O95631	p.Met30Ile	rs767190473	missense variant	-	NC_000017.11:g.9022463G>A	ExAC,gnomAD
NTN1	O95631	p.Phe31Leu	rs775131409	missense variant	-	NC_000017.11:g.9022464T>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Phe31Ile	rs775131409	missense variant	-	NC_000017.11:g.9022464T>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala32Val	rs1238290758	missense variant	-	NC_000017.11:g.9022468C>T	gnomAD
NTN1	O95631	p.Ala35Val	rs1286646502	missense variant	-	NC_000017.11:g.9022477C>T	gnomAD
NTN1	O95631	p.Asp39Gly	rs764031075	missense variant	-	NC_000017.11:g.9022489A>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp39Tyr	rs1208736060	missense variant	-	NC_000017.11:g.9022488G>T	gnomAD
NTN1	O95631	p.Ser42Leu	rs764914777	missense variant	-	NC_000017.11:g.9022498C>T	ExAC,gnomAD
NTN1	O95631	p.Asp43Glu	rs947255384	missense variant	-	NC_000017.11:g.9022502C>G	TOPMed
NTN1	O95631	p.Asp43Val	rs1179876418	missense variant	-	NC_000017.11:g.9022501A>T	gnomAD
NTN1	O95631	p.Glu44Ter	rs1382637441	stop gained	-	NC_000017.11:g.9022503G>T	TOPMed,gnomAD
NTN1	O95631	p.Glu44Gln	rs1382637441	missense variant	-	NC_000017.11:g.9022503G>C	TOPMed,gnomAD
NTN1	O95631	p.Gly46Arg	rs1420988349	missense variant	-	NC_000017.11:g.9022509G>C	gnomAD
NTN1	O95631	p.Gly46Asp	rs141044792	missense variant	-	NC_000017.11:g.9022510G>A	1000Genomes,ExAC,gnomAD
NTN1	O95631	p.His47Leu	rs766580870	missense variant	-	NC_000017.11:g.9022513A>T	TOPMed,gnomAD
NTN1	O95631	p.His47Gln	rs564296441	missense variant	-	NC_000017.11:g.9022514C>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Pro48Gln	rs866779945	missense variant	-	NC_000017.11:g.9022516C>A	TOPMed
NTN1	O95631	p.Pro48Arg	rs866779945	missense variant	-	NC_000017.11:g.9022516C>G	TOPMed
NTN1	O95631	p.Arg49Ser	rs868865853	missense variant	-	NC_000017.11:g.9022518C>A	TOPMed,gnomAD
NTN1	O95631	p.Pro53Gln	rs867783307	missense variant	-	NC_000017.11:g.9022531C>A	gnomAD
NTN1	O95631	p.Asp54Glu	rs1378973992	missense variant	-	NC_000017.11:g.9022535C>G	TOPMed,gnomAD
NTN1	O95631	p.Phe55Leu	rs1347980959	missense variant	-	NC_000017.11:g.9022538T>G	TOPMed,gnomAD
NTN1	O95631	p.Val56Phe	rs1232212784	missense variant	-	NC_000017.11:g.9022539G>T	gnomAD
NTN1	O95631	p.Ala58Val	rs530015851	missense variant	-	NC_000017.11:g.9022546C>T	1000Genomes
NTN1	O95631	p.Ala58Glu	rs530015851	missense variant	-	NC_000017.11:g.9022546C>A	1000Genomes
NTN1	O95631	p.Phe60Leu	rs868538817	missense variant	-	NC_000017.11:g.9022553C>A	TOPMed,gnomAD
NTN1	O95631	p.Gly61Val	rs1212597776	missense variant	-	NC_000017.11:g.9022555G>T	gnomAD
NTN1	O95631	p.Gly61Asp	rs1212597776	missense variant	-	NC_000017.11:g.9022555G>A	gnomAD
NTN1	O95631	p.Gly61Arg	rs1204002615	missense variant	-	NC_000017.11:g.9022554G>C	gnomAD
NTN1	O95631	p.Lys62Asn	rs756628226	missense variant	-	NC_000017.11:g.9022559G>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg65Ser	rs1480516380	missense variant	-	NC_000017.11:g.9022566C>A	gnomAD
NTN1	O95631	p.Arg65Leu	rs867005711	missense variant	-	NC_000017.11:g.9022567G>T	TOPMed,gnomAD
NTN1	O95631	p.Arg65Cys	rs1480516380	missense variant	-	NC_000017.11:g.9022566C>T	gnomAD
NTN1	O95631	p.Arg65His	rs867005711	missense variant	-	NC_000017.11:g.9022567G>A	TOPMed,gnomAD
NTN1	O95631	p.Ser68Thr	rs1240603076	missense variant	-	NC_000017.11:g.9022576G>C	TOPMed,gnomAD
NTN1	O95631	p.Ser68Asn	rs1240603076	missense variant	-	NC_000017.11:g.9022576G>A	TOPMed,gnomAD
NTN1	O95631	p.Thr69Ile	rs778302037	missense variant	-	NC_000017.11:g.9022579C>T	ExAC,gnomAD
NTN1	O95631	p.Thr69Ala	rs1453062498	missense variant	-	NC_000017.11:g.9022578A>G	gnomAD
NTN1	O95631	p.Thr69Ser	rs1453062498	missense variant	-	NC_000017.11:g.9022578A>T	gnomAD
NTN1	O95631	p.Cys70Arg	rs1229272962	missense variant	-	NC_000017.11:g.9022581T>C	TOPMed
NTN1	O95631	p.Pro73Leu	rs1370917223	missense variant	-	NC_000017.11:g.9022591C>T	gnomAD
NTN1	O95631	p.Pro73Ser	rs1177864027	missense variant	-	NC_000017.11:g.9022590C>T	gnomAD
NTN1	O95631	p.Pro74Leu	rs1402168181	missense variant	-	NC_000017.11:g.9022594C>T	gnomAD
NTN1	O95631	p.Pro74Ala	rs1051643472	missense variant	-	NC_000017.11:g.9022593C>G	TOPMed,gnomAD
NTN1	O95631	p.Pro74Leu	rs1402168181	missense variant	-	NC_000017.11:g.9022594C>T	NCI-TCGA Cosmic
NTN1	O95631	p.Arg76His	rs1292862173	missense variant	-	NC_000017.11:g.9022600G>A	TOPMed,gnomAD
NTN1	O95631	p.Cys78Ter	rs1220965829	stop gained	-	NC_000017.11:g.9022607C>A	gnomAD
NTN1	O95631	p.Val79Met	rs745578628	missense variant	-	NC_000017.11:g.9022608G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Val80Leu	rs1057094252	missense variant	-	NC_000017.11:g.9022611G>T	TOPMed
NTN1	O95631	p.Ser81Thr	rs1353894647	missense variant	-	NC_000017.11:g.9022615G>C	TOPMed
NTN1	O95631	p.Ser81Arg	rs1307099241	missense variant	-	NC_000017.11:g.9022616C>A	gnomAD
NTN1	O95631	p.Glu85Asp	rs775149906	missense variant	-	NC_000017.11:g.9022628G>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Glu86Gln	rs548182167	missense variant	-	NC_000017.11:g.9022629G>C	1000Genomes,TOPMed
NTN1	O95631	p.Arg87Trp	rs1213695522	missense variant	-	NC_000017.11:g.9022632C>T	gnomAD
NTN1	O95631	p.Arg87Gln	rs1247787617	missense variant	-	NC_000017.11:g.9022633G>A	TOPMed,gnomAD
NTN1	O95631	p.Arg87Leu	rs1247787617	missense variant	-	NC_000017.11:g.9022633G>T	TOPMed,gnomAD
NTN1	O95631	p.Leu88Arg	rs1381078110	missense variant	-	NC_000017.11:g.9022636T>G	TOPMed
NTN1	O95631	p.Arg89Leu	rs1044451064	missense variant	-	NC_000017.11:g.9022639G>T	TOPMed
NTN1	O95631	p.Ser90Trp	rs768509009	missense variant	-	NC_000017.11:g.9022642C>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ser90Leu	rs768509009	missense variant	-	NC_000017.11:g.9022642C>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.His92Asn	rs375380782	missense variant	-	NC_000017.11:g.9022647C>A	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Cys94Tyr	rs1376620666	missense variant	-	NC_000017.11:g.9022654G>A	gnomAD
NTN1	O95631	p.Cys94Ter	rs1417105052	stop gained	-	NC_000017.11:g.9022655C>A	gnomAD
NTN1	O95631	p.Ala96Val	rs1164005622	missense variant	-	NC_000017.11:g.9022660C>T	gnomAD
NTN1	O95631	p.Pro99Arg	rs1287144736	missense variant	-	NC_000017.11:g.9022669C>G	gnomAD
NTN1	O95631	p.Pro99Ser	rs1438744633	missense variant	-	NC_000017.11:g.9022668C>T	gnomAD
NTN1	O95631	p.Lys100Thr	rs1053227918	missense variant	-	NC_000017.11:g.9022672A>C	TOPMed
NTN1	O95631	p.Lys100Glu	rs765138634	missense variant	-	NC_000017.11:g.9022671A>G	ExAC,gnomAD
NTN1	O95631	p.Lys100Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9022673G>T	NCI-TCGA
NTN1	O95631	p.His103Tyr	rs1333223709	missense variant	-	NC_000017.11:g.9022680C>T	gnomAD
NTN1	O95631	p.Pro104Arg	rs1232995274	missense variant	-	NC_000017.11:g.9022684C>G	gnomAD
NTN1	O95631	p.Pro105Ser	rs1323977457	missense variant	-	NC_000017.11:g.9022686C>T	gnomAD
NTN1	O95631	p.Ala106Thr	rs867295954	missense variant	-	NC_000017.11:g.9022689G>A	gnomAD
NTN1	O95631	p.Ala106Val	rs767670390	missense variant	-	NC_000017.11:g.9022690C>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Phe107Leu	rs752803239	missense variant	-	NC_000017.11:g.9022694C>G	ExAC,gnomAD
NTN1	O95631	p.Thr109Ile	rs1474108111	missense variant	-	NC_000017.11:g.9022699C>T	TOPMed,gnomAD
NTN1	O95631	p.Thr109Ser	rs1474108111	missense variant	-	NC_000017.11:g.9022699C>G	TOPMed,gnomAD
NTN1	O95631	p.Asp110Asn	COSM4071131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9022701G>A	NCI-TCGA Cosmic
NTN1	O95631	p.Asn112Ser	rs1410799994	missense variant	-	NC_000017.11:g.9022708A>G	TOPMed,gnomAD
NTN1	O95631	p.Pro114Leu	rs777691583	missense variant	-	NC_000017.11:g.9022714C>T	NCI-TCGA
NTN1	O95631	p.Pro114Leu	rs777691583	missense variant	-	NC_000017.11:g.9022714C>T	ExAC,gnomAD
NTN1	O95631	p.Asn116Lys	rs1420370454	missense variant	-	NC_000017.11:g.9022721C>G	gnomAD
NTN1	O95631	p.Leu117Val	rs1161617405	missense variant	-	NC_000017.11:g.9022722C>G	TOPMed
NTN1	O95631	p.Leu117Pro	rs1417519830	missense variant	-	NC_000017.11:g.9022723T>C	TOPMed
NTN1	O95631	p.Cys119Tyr	rs1353752805	missense variant	-	NC_000017.11:g.9022729G>A	gnomAD
NTN1	O95631	p.Gln121Lys	rs1008999734	missense variant	-	NC_000017.11:g.9022734C>A	TOPMed,gnomAD
NTN1	O95631	p.Glu123CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.9022738_9022747CCGAGAACTA>-	NCI-TCGA
NTN1	O95631	p.Asn124Thr	rs200187924	missense variant	-	NC_000017.11:g.9022744A>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asn124Ser	rs200187924	missense variant	-	NC_000017.11:g.9022744A>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Tyr125Asn	rs779337164	missense variant	-	NC_000017.11:g.9022746T>A	ExAC,gnomAD
NTN1	O95631	p.Phe128Leu	rs571334142	missense variant	-	NC_000017.11:g.9022757C>A	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Phe128Leu	rs571334142	missense variant	-	NC_000017.11:g.9022757C>G	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.His130Arg	rs1262845727	missense variant	-	NC_000017.11:g.9022762A>G	TOPMed
NTN1	O95631	p.Thr135Ile	rs779814893	missense variant	-	NC_000017.11:g.9022777C>T	ExAC,gnomAD
NTN1	O95631	p.Leu136Val	rs1484460161	missense variant	-	NC_000017.11:g.9022779C>G	gnomAD
NTN1	O95631	p.Ser137Ala	rs1186379178	missense variant	-	NC_000017.11:g.9022782T>G	TOPMed,gnomAD
NTN1	O95631	p.Gly139Val	rs746632315	missense variant	-	NC_000017.11:g.9022789G>T	ExAC,gnomAD
NTN1	O95631	p.Gly139Cys	rs1473654500	missense variant	-	NC_000017.11:g.9022788G>T	gnomAD
NTN1	O95631	p.Lys141Thr	COSM4071132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9022795A>C	NCI-TCGA Cosmic
NTN1	O95631	p.Glu143Lys	COSM3796278	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9022800G>A	NCI-TCGA Cosmic
NTN1	O95631	p.Val144Ala	rs1440404039	missense variant	-	NC_000017.11:g.9022804T>C	gnomAD
NTN1	O95631	p.Val144Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9022803G>C	NCI-TCGA
NTN1	O95631	p.Val147Met	rs1278786572	missense variant	-	NC_000017.11:g.9022812G>A	TOPMed
NTN1	O95631	p.Gln150His	rs1279508055	missense variant	-	NC_000017.11:g.9022823G>C	TOPMed,gnomAD
NTN1	O95631	p.Gln150Leu	rs775995825	missense variant	-	NC_000017.11:g.9022822A>T	ExAC
NTN1	O95631	p.Phe151Leu	rs1414159385	missense variant	-	NC_000017.11:g.9022826C>A	gnomAD
NTN1	O95631	p.Arg155Gln	COSM5055931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9022837G>A	NCI-TCGA Cosmic
NTN1	O95631	p.Arg155Trp	rs1335097221	missense variant	-	NC_000017.11:g.9022836C>T	gnomAD
NTN1	O95631	p.Met159Thr	rs1440394143	missense variant	-	NC_000017.11:g.9022849T>C	gnomAD
NTN1	O95631	p.Met159Ile	rs1028036395	missense variant	-	NC_000017.11:g.9022850G>A	TOPMed,gnomAD
NTN1	O95631	p.Ala160Thr	rs1400510763	missense variant	-	NC_000017.11:g.9022851G>A	TOPMed
NTN1	O95631	p.Ala160Val	rs1378242475	missense variant	-	NC_000017.11:g.9022852C>T	gnomAD
NTN1	O95631	p.Ile161Leu	rs1240273489	missense variant	-	NC_000017.11:g.9022854A>C	gnomAD
NTN1	O95631	p.Tyr162Cys	rs769551467	missense variant	-	NC_000017.11:g.9022858A>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Met165Val	rs762689038	missense variant	-	NC_000017.11:g.9022866A>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp166Tyr	COSM708494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9022869G>T	NCI-TCGA Cosmic
NTN1	O95631	p.Asp166His	rs1470975750	missense variant	-	NC_000017.11:g.9022869G>C	TOPMed
NTN1	O95631	p.Arg169His	rs766128293	missense variant	-	NC_000017.11:g.9022879G>A	NCI-TCGA Cosmic
NTN1	O95631	p.Arg169Leu	rs766128293	missense variant	-	NC_000017.11:g.9022879G>T	ExAC,gnomAD
NTN1	O95631	p.Arg169His	rs766128293	missense variant	-	NC_000017.11:g.9022879G>A	ExAC,gnomAD
NTN1	O95631	p.Thr170Met	rs752964582	missense variant	-	NC_000017.11:g.9022882C>T	ExAC,gnomAD
NTN1	O95631	p.Thr170Ala	rs1427846302	missense variant	-	NC_000017.11:g.9022881A>G	TOPMed
NTN1	O95631	p.Thr170Lys	rs752964582	missense variant	-	NC_000017.11:g.9022882C>A	ExAC,gnomAD
NTN1	O95631	p.Val172Met	rs1252968756	missense variant	-	NC_000017.11:g.9022887G>A	gnomAD
NTN1	O95631	p.Pro173Ser	rs764297553	missense variant	-	NC_000017.11:g.9022890C>T	ExAC,gnomAD
NTN1	O95631	p.Phe174Leu	rs757792325	missense variant	-	NC_000017.11:g.9022893T>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Phe176Leu	COSM4071134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9022899T>C	NCI-TCGA Cosmic
NTN1	O95631	p.Phe176Cys	rs779511545	missense variant	-	NC_000017.11:g.9022900T>G	ExAC,gnomAD
NTN1	O95631	p.Phe176Leu	rs1395836571	missense variant	-	NC_000017.11:g.9022901C>G	gnomAD
NTN1	O95631	p.Ser178Thr	rs1331045767	missense variant	-	NC_000017.11:g.9022905T>A	gnomAD
NTN1	O95631	p.Cys181Tyr	rs1401458871	missense variant	-	NC_000017.11:g.9022915G>A	TOPMed,gnomAD
NTN1	O95631	p.Arg182Pro	rs1449707617	missense variant	-	NC_000017.11:g.9022918G>C	gnomAD
NTN1	O95631	p.Met184Val	rs758877817	missense variant	-	NC_000017.11:g.9022923A>G	ExAC,gnomAD
NTN1	O95631	p.Asn186Lys	rs746720404	missense variant	-	NC_000017.11:g.9022931C>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asn186Ser	rs751410364	missense variant	-	NC_000017.11:g.9022930A>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg187Leu	rs768189573	missense variant	-	NC_000017.11:g.9022933G>T	ExAC,gnomAD
NTN1	O95631	p.Arg187Gln	rs768189573	missense variant	-	NC_000017.11:g.9022933G>A	ExAC,gnomAD
NTN1	O95631	p.Arg190His	rs780758662	missense variant	-	NC_000017.11:g.9022942G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala191Thr	rs769794608	missense variant	-	NC_000017.11:g.9022944G>A	ExAC,gnomAD
NTN1	O95631	p.Lys195Arg	rs1248692227	missense variant	-	NC_000017.11:g.9022957A>G	gnomAD
NTN1	O95631	p.Lys195Glu	rs773172213	missense variant	-	NC_000017.11:g.9022956A>G	ExAC,gnomAD
NTN1	O95631	p.Lys195Gln	rs773172213	missense variant	-	NC_000017.11:g.9022956A>C	ExAC,gnomAD
NTN1	O95631	p.Gln196His	rs1474579784	missense variant	-	NC_000017.11:g.9022961G>C	gnomAD
NTN1	O95631	p.Asn197Lys	rs770770428	missense variant	-	NC_000017.11:g.9022964C>A	ExAC,gnomAD
NTN1	O95631	p.Asn197Ser	rs749199790	missense variant	-	NC_000017.11:g.9022963A>G	ExAC,gnomAD
NTN1	O95631	p.Glu200Asp	rs760951671	missense variant	-	NC_000017.11:g.9022973G>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Val202Leu	rs992652140	missense variant	-	NC_000017.11:g.9022977G>T	TOPMed
NTN1	O95631	p.Thr204Ser	rs201736911	missense variant	-	NC_000017.11:g.9022984C>G	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp205Asn	rs1454765199	missense variant	-	NC_000017.11:g.9022986G>A	TOPMed
NTN1	O95631	p.His207Arg	rs200854554	missense variant	-	NC_000017.11:g.9022993A>G	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.His207Tyr	rs1332287834	missense variant	-	NC_000017.11:g.9022992C>T	gnomAD
NTN1	O95631	p.Thr208Asn	rs1277164731	missense variant	-	NC_000017.11:g.9022996C>A	TOPMed,gnomAD
NTN1	O95631	p.Thr208Ile	rs1277164731	missense variant	-	NC_000017.11:g.9022996C>T	TOPMed,gnomAD
NTN1	O95631	p.Met210Val	rs199674301	missense variant	-	NC_000017.11:g.9023001A>G	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg211Leu	rs766922436	missense variant	-	NC_000017.11:g.9023005G>T	ExAC,gnomAD
NTN1	O95631	p.Arg211Ser	rs34079256	missense variant	-	NC_000017.11:g.9023004C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg211Cys	rs34079256	missense variant	-	NC_000017.11:g.9023004C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg211Cys	rs34079256	missense variant	-	NC_000017.11:g.9023004C>T	NCI-TCGA
NTN1	O95631	p.Pro212Ser	rs1428238477	missense variant	-	NC_000017.11:g.9023007C>T	TOPMed
NTN1	O95631	p.Pro212Ser	rs1428238477	missense variant	-	NC_000017.11:g.9023007C>T	NCI-TCGA Cosmic
NTN1	O95631	p.Leu213Phe	rs1292174649	missense variant	-	NC_000017.11:g.9023010C>T	gnomAD
NTN1	O95631	p.Ser214Leu	rs372642681	missense variant	-	NC_000017.11:g.9023014C>T	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Gly216Val	rs1264100470	missense variant	-	NC_000017.11:g.9023020G>T	gnomAD
NTN1	O95631	p.Ala219Thr	COSM1303569	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9023028G>A	NCI-TCGA Cosmic
NTN1	O95631	p.Thr222Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9023038C>T	NCI-TCGA
NTN1	O95631	p.Asp224Tyr	rs1165503909	missense variant	-	NC_000017.11:g.9023043G>T	gnomAD
NTN1	O95631	p.Gly225Arg	rs1417255509	missense variant	-	NC_000017.11:g.9023046G>C	gnomAD
NTN1	O95631	p.Ser228Leu	COSM460170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9023056C>T	NCI-TCGA Cosmic
NTN1	O95631	p.His230Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9023061C>A	NCI-TCGA
NTN1	O95631	p.Phe232Leu	rs1401636588	missense variant	-	NC_000017.11:g.9023069C>G	gnomAD
NTN1	O95631	p.Asp233His	rs749289575	missense variant	-	NC_000017.11:g.9023070G>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asn234Ser	rs1339624679	missense variant	-	NC_000017.11:g.9023074A>G	TOPMed,gnomAD
NTN1	O95631	p.Pro236Thr	rs770788634	missense variant	-	NC_000017.11:g.9023079C>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Pro236Ser	rs770788634	missense variant	-	NC_000017.11:g.9023079C>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Gln239Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.9023088C>T	NCI-TCGA
NTN1	O95631	p.Asp240Asn	rs1287048531	missense variant	-	NC_000017.11:g.9023091G>A	gnomAD
NTN1	O95631	p.Ala244Thr	rs868503729	missense variant	-	NC_000017.11:g.9023103G>A	TOPMed,gnomAD
NTN1	O95631	p.Ile247Val	rs1190236557	missense variant	-	NC_000017.11:g.9023112A>G	gnomAD
NTN1	O95631	p.Arg248His	rs1437308979	missense variant	-	NC_000017.11:g.9023116G>A	gnomAD
NTN1	O95631	p.Arg248Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9023115C>T	NCI-TCGA
NTN1	O95631	p.Arg248Leu	rs1437308979	missense variant	-	NC_000017.11:g.9023116G>T	gnomAD
NTN1	O95631	p.Val249Leu	rs762076661	missense variant	-	NC_000017.11:g.9023118G>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Val249Met	rs762076661	missense variant	-	NC_000017.11:g.9023118G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala250Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9023121G>A	NCI-TCGA
NTN1	O95631	p.Arg253Cys	rs1248532211	missense variant	-	NC_000017.11:g.9023130C>T	TOPMed
NTN1	O95631	p.Arg253Leu	rs148441765	missense variant	-	NC_000017.11:g.9023131G>T	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg253His	rs148441765	missense variant	-	NC_000017.11:g.9023131G>A	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.His255Arg	rs1391973690	missense variant	-	NC_000017.11:g.9023137A>G	TOPMed
NTN1	O95631	p.Phe257Leu	rs745820812	missense variant	-	NC_000017.11:g.9023144C>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp259Glu	rs766935068	missense variant	-	NC_000017.11:g.9023150C>G	ExAC,gnomAD
NTN1	O95631	p.Glu262Gln	rs1297009010	missense variant	-	NC_000017.11:g.9023157G>C	TOPMed
NTN1	O95631	p.Glu262Ala	rs751977350	missense variant	-	NC_000017.11:g.9023158A>C	ExAC,gnomAD
NTN1	O95631	p.Asp263Glu	rs1310142074	missense variant	-	NC_000017.11:g.9023162C>G	gnomAD
NTN1	O95631	p.Ser265Leu	rs142558586	missense variant	-	NC_000017.11:g.9023167C>T	ESP,TOPMed,gnomAD
NTN1	O95631	p.Ser271Trp	rs755259287	missense variant	-	NC_000017.11:g.9023185C>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ser271Leu	rs755259287	missense variant	-	NC_000017.11:g.9023185C>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala275Val	rs1236907234	missense variant	-	NC_000017.11:g.9023197C>T	gnomAD
NTN1	O95631	p.Ala275Thr	rs767898852	missense variant	-	NC_000017.11:g.9023196G>A	ExAC,gnomAD
NTN1	O95631	p.Ser277Phe	rs1457746235	missense variant	-	NC_000017.11:g.9023203C>T	gnomAD
NTN1	O95631	p.Asp278Asn	rs1380455130	missense variant	-	NC_000017.11:g.9023205G>A	gnomAD
NTN1	O95631	p.Gly282Asp	rs1173539091	missense variant	-	NC_000017.11:g.9023218G>A	gnomAD
NTN1	O95631	p.Gly283Ser	rs755758763	missense variant	-	NC_000017.11:g.9023220G>A	ExAC,gnomAD
NTN1	O95631	p.Arg284Leu	rs1420306201	missense variant	-	NC_000017.11:g.9023224G>T	TOPMed
NTN1	O95631	p.Cys287SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.9023233_9023254GCAACGGCCACGCGGCCCGCTG>-	NCI-TCGA
NTN1	O95631	p.Asn288Ser	rs1195204919	missense variant	-	NC_000017.11:g.9023236A>G	TOPMed
NTN1	O95631	p.Gly289Arg	rs865836663	missense variant	-	NC_000017.11:g.9023238G>C	gnomAD
NTN1	O95631	p.Gly289Cys	rs865836663	missense variant	-	NC_000017.11:g.9023238G>T	gnomAD
NTN1	O95631	p.Ala291Glu	rs1379224707	missense variant	-	NC_000017.11:g.9023245C>A	gnomAD
NTN1	O95631	p.Ala292Thr	rs1385083318	missense variant	-	NC_000017.11:g.9023247G>A	gnomAD
NTN1	O95631	p.Arg293His	rs1300880577	missense variant	-	NC_000017.11:g.9023251G>A	TOPMed,gnomAD
NTN1	O95631	p.Val295Leu	rs577333476	missense variant	-	NC_000017.11:g.9023256G>T	1000Genomes,TOPMed,gnomAD
NTN1	O95631	p.Val295Met	rs577333476	missense variant	-	NC_000017.11:g.9023256G>A	1000Genomes,TOPMed,gnomAD
NTN1	O95631	p.Val295Met	rs577333476	missense variant	-	NC_000017.11:g.9023256G>A	NCI-TCGA
NTN1	O95631	p.Arg296Pro	rs748734505	missense variant	-	NC_000017.11:g.9023260G>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg296His	rs748734505	missense variant	-	NC_000017.11:g.9023260G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg296Ser	rs1314584634	missense variant	-	NC_000017.11:g.9023259C>A	TOPMed
NTN1	O95631	p.Asp297Tyr	rs1256601152	missense variant	-	NC_000017.11:g.9023262G>T	gnomAD
NTN1	O95631	p.Asp299Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9023268G>A	NCI-TCGA
NTN1	O95631	p.Leu302Pro	rs1240512658	missense variant	-	NC_000017.11:g.9023278T>C	gnomAD
NTN1	O95631	p.Val303Met	rs778673423	missense variant	-	NC_000017.11:g.9023280G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Val303Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9023280G>C	NCI-TCGA
NTN1	O95631	p.Asp305Asn	rs868254012	missense variant	-	NC_000017.11:g.9023286G>A	gnomAD
NTN1	O95631	p.Asp305Gly	rs745784631	missense variant	-	NC_000017.11:g.9023287A>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp305Val	rs745784631	missense variant	-	NC_000017.11:g.9023287A>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp305Tyr	rs868254012	missense variant	-	NC_000017.11:g.9023286G>T	gnomAD
NTN1	O95631	p.Asp305Glu	rs771813609	missense variant	-	NC_000017.11:g.9023288C>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Cys306Trp	rs779888759	missense variant	-	NC_000017.11:g.9023291C>G	ExAC,gnomAD
NTN1	O95631	p.Thr310Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9023302C>T	NCI-TCGA
NTN1	O95631	p.Ala311Asp	rs1171304335	missense variant	-	NC_000017.11:g.9023305C>A	gnomAD
NTN1	O95631	p.Ala311Val	rs1171304335	missense variant	-	NC_000017.11:g.9023305C>T	gnomAD
NTN1	O95631	p.Gly312Ser	rs1249348058	missense variant	-	NC_000017.11:g.9023307G>A	TOPMed,gnomAD
NTN1	O95631	p.Pro313Arg	rs1293061746	missense variant	-	NC_000017.11:g.9023311C>G	TOPMed,gnomAD
NTN1	O95631	p.Pro313Leu	rs1293061746	missense variant	-	NC_000017.11:g.9023311C>T	TOPMed,gnomAD
NTN1	O95631	p.Arg317Leu	rs1361634726	missense variant	-	NC_000017.11:g.9023323G>T	TOPMed
NTN1	O95631	p.Arg329His	rs987215469	missense variant	-	NC_000017.11:g.9023359G>A	TOPMed
NTN1	O95631	p.Ala332Val	rs773439086	missense variant	-	NC_000017.11:g.9023368C>T	ExAC
NTN1	O95631	p.Asn336Ser	rs1320393559	missense variant	-	NC_000017.11:g.9023380A>G	gnomAD
NTN1	O95631	p.Val339Met	rs1221446939	missense variant	-	NC_000017.11:g.9023388G>A	TOPMed,gnomAD
NTN1	O95631	p.Val339Leu	rs1221446939	missense variant	-	NC_000017.11:g.9023388G>T	TOPMed,gnomAD
NTN1	O95631	p.Asn342Tyr	rs759962176	missense variant	-	NC_000017.11:g.9162818A>T	ExAC,gnomAD
NTN1	O95631	p.Leu345Pro	rs1471678606	missense variant	-	NC_000017.11:g.9162828T>C	gnomAD
NTN1	O95631	p.Arg348Trp	rs375204917	missense variant	-	NC_000017.11:g.9162836C>T	1000Genomes,ESP,ExAC,gnomAD
NTN1	O95631	p.Arg348Gln	rs368127099	missense variant	-	NC_000017.11:g.9162837G>A	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg349Leu	rs374707235	missense variant	-	NC_000017.11:g.9162840G>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg349His	rs374707235	missense variant	-	NC_000017.11:g.9162840G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg349Cys	rs1420588142	missense variant	-	NC_000017.11:g.9162839C>T	gnomAD
NTN1	O95631	p.Arg351His	rs531668666	missense variant	-	NC_000017.11:g.9162846G>A	UniProt,dbSNP
NTN1	O95631	p.Arg351His	VAR_014279	missense variant	-	NC_000017.11:g.9162846G>A	UniProt
NTN1	O95631	p.Arg351His	rs531668666	missense variant	-	NC_000017.11:g.9162846G>A	ExAC,gnomAD
NTN1	O95631	p.Arg351Ser	rs140248343	missense variant	-	NC_000017.11:g.9162845C>A	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg351Cys	rs140248343	missense variant	-	NC_000017.11:g.9162845C>T	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asn353Lys	rs1238578306	missense variant	-	NC_000017.11:g.9162853C>A	TOPMed,gnomAD
NTN1	O95631	p.Met354Val	rs1306500773	missense variant	-	NC_000017.11:g.9162854A>G	gnomAD
NTN1	O95631	p.Leu356Ile	rs758282081	missense variant	-	NC_000017.11:g.9162860C>A	ExAC,gnomAD
NTN1	O95631	p.Tyr357Cys	rs751434453	missense variant	-	NC_000017.11:g.9162864A>G	ExAC,gnomAD
NTN1	O95631	p.Tyr357His	rs779997082	missense variant	-	NC_000017.11:g.9162863T>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Leu359Phe	rs754863907	missense variant	-	NC_000017.11:g.9162869C>T	ExAC,gnomAD
NTN1	O95631	p.Ser360Leu	COSM276408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9162873C>T	NCI-TCGA Cosmic
NTN1	O95631	p.Arg362His	rs558564980	missense variant	-	NC_000017.11:g.9162879G>A	1000Genomes,ExAC,gnomAD
NTN1	O95631	p.Arg362Cys	rs749586755	missense variant	-	NC_000017.11:g.9162878C>T	ExAC,gnomAD
NTN1	O95631	p.Lys363Asn	rs778868022	missense variant	-	NC_000017.11:g.9162883G>C	ExAC,gnomAD
NTN1	O95631	p.Ser364Arg	rs772486953	missense variant	-	NC_000017.11:g.9162886C>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ser364Arg	rs772486953	missense variant	-	NC_000017.11:g.9162886C>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Gly365Arg	COSM3403417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9162887G>A	NCI-TCGA Cosmic
NTN1	O95631	p.Gly365Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9162888G>T	NCI-TCGA
NTN1	O95631	p.Val367Ile	rs1160517048	missense variant	-	NC_000017.11:g.9162893G>A	gnomAD
NTN1	O95631	p.Cys368Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9162897G>A	NCI-TCGA
NTN1	O95631	p.Leu369Ile	rs1216191751	missense variant	-	NC_000017.11:g.9162899C>A	gnomAD
NTN1	O95631	p.Asn370Tyr	rs1414280704	missense variant	-	NC_000017.11:g.9162902A>T	TOPMed,gnomAD
NTN1	O95631	p.Asn370Ser	rs776977895	missense variant	-	NC_000017.11:g.9162903A>G	ExAC,gnomAD
NTN1	O95631	p.Asn370Lys	rs144950762	missense variant	-	NC_000017.11:g.9162904C>G	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asn370Asp	rs1414280704	missense variant	-	NC_000017.11:g.9162902A>G	TOPMed,gnomAD
NTN1	O95631	p.Arg372His	rs1331242639	missense variant	-	NC_000017.11:g.9162909G>A	gnomAD
NTN1	O95631	p.Arg372Leu	rs1331242639	missense variant	-	NC_000017.11:g.9162909G>T	gnomAD
NTN1	O95631	p.Arg372Cys	rs772623927	missense variant	-	NC_000017.11:g.9162908C>T	ExAC,gnomAD
NTN1	O95631	p.Asn374Ser	rs762489133	missense variant	-	NC_000017.11:g.9162915A>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Thr375Pro	rs765779295	missense variant	-	NC_000017.11:g.9162917A>C	ExAC,gnomAD
NTN1	O95631	p.Ala376Thr	rs754959235	missense variant	-	NC_000017.11:g.9162920G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala376Val	rs767421459	missense variant	-	NC_000017.11:g.9162921C>T	ExAC,gnomAD
NTN1	O95631	p.Ala376Pro	rs754959235	missense variant	-	NC_000017.11:g.9162920G>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Gly377Ala	rs1196735610	missense variant	-	NC_000017.11:g.9162924G>C	gnomAD
NTN1	O95631	p.Gly377Ser	rs1325419572	missense variant	-	NC_000017.11:g.9162923G>A	TOPMed,gnomAD
NTN1	O95631	p.Arg378Cys	rs757439358	missense variant	-	NC_000017.11:g.9162926C>T	ExAC
NTN1	O95631	p.His379Leu	rs1458294875	missense variant	-	NC_000017.11:g.9162930A>T	gnomAD
NTN1	O95631	p.His381Arg	rs1037160564	missense variant	-	NC_000017.11:g.9162936A>G	TOPMed
NTN1	O95631	p.Arg389His	rs758553071	missense variant	-	NC_000017.11:g.9162960G>A	NCI-TCGA
NTN1	O95631	p.Arg389Cys	rs1477843526	missense variant	-	NC_000017.11:g.9162959C>T	TOPMed,gnomAD
NTN1	O95631	p.Arg389His	rs758553071	missense variant	-	NC_000017.11:g.9162960G>A	ExAC,gnomAD
NTN1	O95631	p.Arg389Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9162960G>T	NCI-TCGA
NTN1	O95631	p.Asp390Asn	rs747583915	missense variant	-	NC_000017.11:g.9162962G>A	ExAC,gnomAD
NTN1	O95631	p.Met391Ile	rs1463713159	missense variant	-	NC_000017.11:g.9162967G>T	TOPMed
NTN1	O95631	p.Met391Thr	rs1170602853	missense variant	-	NC_000017.11:g.9162966T>C	TOPMed,gnomAD
NTN1	O95631	p.Gly392Asp	rs1401613787	missense variant	-	NC_000017.11:g.9162969G>A	gnomAD
NTN1	O95631	p.Lys393Arg	rs1247253192	missense variant	-	NC_000017.11:g.9162972A>G	TOPMed
NTN1	O95631	p.Ile395Leu	rs769085897	missense variant	-	NC_000017.11:g.9162977A>C	ExAC,gnomAD
NTN1	O95631	p.Arg398Gln	rs772961270	missense variant	-	NC_000017.11:g.9162987G>A	ExAC,gnomAD
NTN1	O95631	p.Arg398Trp	rs1283511561	missense variant	-	NC_000017.11:g.9162986C>T	gnomAD
NTN1	O95631	p.Arg398Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9162987G>T	NCI-TCGA
NTN1	O95631	p.Lys399Ter	COSM3403418	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.9162989A>T	NCI-TCGA Cosmic
NTN1	O95631	p.Ala400Thr	rs1257370869	missense variant	-	NC_000017.11:g.9162992G>A	NCI-TCGA
NTN1	O95631	p.Ala400Thr	rs1257370869	missense variant	-	NC_000017.11:g.9162992G>A	gnomAD
NTN1	O95631	p.Val409Met	rs1251422099	missense variant	-	NC_000017.11:g.9179824G>A	TOPMed
NTN1	O95631	p.Lys414Glu	rs1337230198	missense variant	-	NC_000017.11:g.9179839A>G	gnomAD
NTN1	O95631	p.Lys414Arg	rs760664453	missense variant	-	NC_000017.11:g.9179840A>G	ExAC,gnomAD
NTN1	O95631	p.Thr415Ile	rs768422332	missense variant	-	NC_000017.11:g.9179843C>T	ExAC,gnomAD
NTN1	O95631	p.Asn417Ser	rs776507980	missense variant	-	NC_000017.11:g.9179849A>G	ExAC,gnomAD
NTN1	O95631	p.Gln418His	rs761557142	missense variant	-	NC_000017.11:g.9179853A>T	ExAC,gnomAD
NTN1	O95631	p.Thr420Asn	rs764990370	missense variant	-	NC_000017.11:g.9179858C>A	ExAC,gnomAD
NTN1	O95631	p.Gln422Arg	rs1286087443	missense variant	-	NC_000017.11:g.9179864A>G	TOPMed
NTN1	O95631	p.Cys425Ser	rs1352940456	missense variant	-	NC_000017.11:g.9179872T>A	TOPMed
NTN1	O95631	p.Lys426Asn	rs1289412509	missense variant	-	NC_000017.11:g.9179877G>T	gnomAD
NTN1	O95631	p.Gly428Ser	rs767706132	missense variant	-	NC_000017.11:g.9179881G>A	ExAC,gnomAD
NTN1	O95631	p.Val429Met	rs1368135380	missense variant	-	NC_000017.11:g.9179884G>A	TOPMed
NTN1	O95631	p.Thr430Met	rs199736561	missense variant	-	NC_000017.11:g.9179888C>T	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Gly431Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9179890G>C	NCI-TCGA
NTN1	O95631	p.Ile432Val	rs764463891	missense variant	-	NC_000017.11:g.9179893A>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ile432Thr	rs367908355	missense variant	-	NC_000017.11:g.9179894T>C	ESP,ExAC,gnomAD
NTN1	O95631	p.Arg436Cys	rs1034816738	missense variant	-	NC_000017.11:g.9179905C>T	TOPMed,gnomAD
NTN1	O95631	p.Ala438Ser	rs779408192	missense variant	-	NC_000017.11:g.9179911G>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala438Thr	rs779408192	missense variant	-	NC_000017.11:g.9179911G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Gly440Ser	rs1174788779	missense variant	-	NC_000017.11:g.9179917G>A	TOPMed
NTN1	O95631	p.Gln443His	rs745580830	missense variant	-	NC_000017.11:g.9179928G>C	ExAC,gnomAD
NTN1	O95631	p.Arg445ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.9179933G>-	NCI-TCGA
NTN1	O95631	p.Ser446Phe	rs758056714	missense variant	-	NC_000017.11:g.9179936C>T	ExAC,gnomAD
NTN1	O95631	p.Ser446Cys	rs758056714	missense variant	-	NC_000017.11:g.9179936C>G	ExAC,gnomAD
NTN1	O95631	p.Pro447Ala	rs1022072462	missense variant	-	NC_000017.11:g.9179938C>G	TOPMed,gnomAD
NTN1	O95631	p.Pro447Ser	rs1022072462	missense variant	-	NC_000017.11:g.9179938C>T	TOPMed,gnomAD
NTN1	O95631	p.Ala449Thr	rs1420549242	missense variant	-	NC_000017.11:g.9179944G>A	gnomAD
NTN1	O95631	p.Pro450Leu	rs1190617393	missense variant	-	NC_000017.11:g.9179948C>T	TOPMed
NTN1	O95631	p.Pro450Ala	rs1196305630	missense variant	-	NC_000017.11:g.9179947C>G	gnomAD
NTN1	O95631	p.Ile452Val	rs925672779	missense variant	-	NC_000017.11:g.9179953A>G	TOPMed,gnomAD
NTN1	O95631	p.Val456Ile	rs776784254	missense variant	-	NC_000017.11:g.9182924G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala457Val	rs762421437	missense variant	-	NC_000017.11:g.9182928C>T	ExAC,gnomAD
NTN1	O95631	p.Pro458Leu	rs149166851	missense variant	-	NC_000017.11:g.9182931C>T	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Pro459Thr	rs376278603	missense variant	-	NC_000017.11:g.9182933C>A	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Pro459Leu	rs370320158	missense variant	-	NC_000017.11:g.9182934C>T	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Thr460Met	rs201647422	missense variant	-	NC_000017.11:g.9182937C>T	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Thr460Pro	rs541757843	missense variant	-	NC_000017.11:g.9182936A>C	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Thr461Ile	rs777725695	missense variant	-	NC_000017.11:g.9182940C>T	ExAC,gnomAD
NTN1	O95631	p.Ala462Val	rs1426866580	missense variant	-	NC_000017.11:g.9182943C>T	gnomAD
NTN1	O95631	p.Ala463Pro	rs1296568733	missense variant	-	NC_000017.11:g.9182945G>C	gnomAD
NTN1	O95631	p.Ala463Val	rs1175810246	missense variant	-	NC_000017.11:g.9182946C>T	TOPMed
NTN1	O95631	p.Ser464Gly	rs1344989253	missense variant	-	NC_000017.11:g.9182948A>G	gnomAD
NTN1	O95631	p.Ser464Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9182949G>A	NCI-TCGA
NTN1	O95631	p.Ser465Arg	rs749223121	missense variant	-	NC_000017.11:g.9182953C>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Val466Leu	COSM6082460	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9182954G>T	NCI-TCGA Cosmic
NTN1	O95631	p.Val466Met	rs770685391	missense variant	-	NC_000017.11:g.9182954G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Glu467Lys	rs1224906376	missense variant	-	NC_000017.11:g.9182957G>A	TOPMed
NTN1	O95631	p.Glu467Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9182959G>T	NCI-TCGA
NTN1	O95631	p.Glu468Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.9182960G>T	NCI-TCGA
NTN1	O95631	p.Asp471Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9221168A>G	NCI-TCGA
NTN1	O95631	p.Cys472Trp	rs376071535	missense variant	-	NC_000017.11:g.9221172C>G	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp473Asn	rs761359652	missense variant	-	NC_000017.11:g.9221173G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp473Gly	rs1263017163	missense variant	-	NC_000017.11:g.9221174A>G	gnomAD
NTN1	O95631	p.Tyr475His	rs1460500841	missense variant	-	NC_000017.11:g.9221179T>C	gnomAD
NTN1	O95631	p.Lys477Arg	rs192776775	missense variant	-	NC_000017.11:g.9221186A>G	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Lys477Glu	rs769415167	missense variant	-	NC_000017.11:g.9221185A>G	ExAC,gnomAD
NTN1	O95631	p.Gly481Arg	rs763000977	missense variant	-	NC_000017.11:g.9221197G>A	ExAC,gnomAD
NTN1	O95631	p.Lys484Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9221207A>C	NCI-TCGA
NTN1	O95631	p.Asn486Asp	rs759450158	missense variant	-	NC_000017.11:g.9221212A>G	ExAC,gnomAD
NTN1	O95631	p.Met487Ile	rs1328658979	missense variant	-	NC_000017.11:g.9221217G>T	TOPMed,gnomAD
NTN1	O95631	p.Lys489Arg	rs527854751	missense variant	-	NC_000017.11:g.9221222A>G	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Lys489Asn	rs367820405	missense variant	-	NC_000017.11:g.9221223G>C	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Lys489Glu	VAR_014280	Missense	-	-	UniProt
NTN1	O95631	p.Tyr490Ser	rs1338831191	missense variant	-	NC_000017.11:g.9221225A>C	gnomAD
NTN1	O95631	p.Lys492Asn	COSM283405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9221232G>T	NCI-TCGA Cosmic
NTN1	O95631	p.Lys493Asn	rs143263899	missense variant	-	NC_000017.11:g.9221235G>C	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala496Gly	rs781630973	missense variant	-	NC_000017.11:g.9239640C>G	ExAC,gnomAD
NTN1	O95631	p.Val497Ile	rs1199633261	missense variant	-	NC_000017.11:g.9239642G>A	TOPMed
NTN1	O95631	p.Gln498His	rs748416143	missense variant	-	NC_000017.11:g.9239647G>T	ExAC,gnomAD
NTN1	O95631	p.His500Tyr	rs146793027	missense variant	-	NC_000017.11:g.9239651C>T	ESP,ExAC,gnomAD
NTN1	O95631	p.Ala504Val	rs1265173784	missense variant	-	NC_000017.11:g.9239664C>T	TOPMed
NTN1	O95631	p.Asp505Glu	rs777612620	missense variant	-	NC_000017.11:g.9239668C>G	ExAC
NTN1	O95631	p.Ala507Val	rs748931841	missense variant	-	NC_000017.11:g.9239673C>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Gly508Glu	rs773929383	missense variant	-	NC_000017.11:g.9239676G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp509Tyr	COSM986407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9239678G>T	NCI-TCGA Cosmic
NTN1	O95631	p.Trp510Ser	rs1439004109	missense variant	-	NC_000017.11:g.9239682G>C	gnomAD
NTN1	O95631	p.Phe513Leu	rs1476064147	missense variant	-	NC_000017.11:g.9239690T>C	gnomAD
NTN1	O95631	p.Thr514Met	rs1349460578	missense variant	-	NC_000017.11:g.9239694C>T	TOPMed
NTN1	O95631	p.Val515Ala	rs1234766339	missense variant	-	NC_000017.11:g.9239697T>C	TOPMed
NTN1	O95631	p.Ile517Val	rs372941055	missense variant	-	NC_000017.11:g.9239702A>G	ESP,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ile518Val	rs574346024	missense variant	-	NC_000017.11:g.9239705A>G	1000Genomes,ExAC,gnomAD
NTN1	O95631	p.Ile518del	VAR_082026	inframe_deletion	Mirror movements 4 (MRMV4) [MIM:618264]	-	UniProt
NTN1	O95631	p.Ser519Phe	rs760426490	missense variant	-	NC_000017.11:g.9239709C>T	ExAC,gnomAD
NTN1	O95631	p.Val520Leu	rs201393437	missense variant	-	NC_000017.11:g.9239711G>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Val520Ala	rs766453556	missense variant	-	NC_000017.11:g.9239712T>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Val520Met	rs201393437	missense variant	-	NC_000017.11:g.9239711G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Gln523Arg	rs751537816	missense variant	-	NC_000017.11:g.9239721A>G	ExAC,gnomAD
NTN1	O95631	p.Gly524Arg	rs755534824	missense variant	-	NC_000017.11:g.9239723G>C	ExAC
NTN1	O95631	p.Gly524Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9239724G>A	NCI-TCGA
NTN1	O95631	p.Thr525Arg	rs767874469	missense variant	-	NC_000017.11:g.9239727C>G	ExAC,gnomAD
NTN1	O95631	p.Thr525Met	rs767874469	missense variant	-	NC_000017.11:g.9239727C>T	ExAC,gnomAD
NTN1	O95631	p.Ser526Asn	rs753221564	missense variant	-	NC_000017.11:g.9239730G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg527His	rs756488485	missense variant	-	NC_000017.11:g.9239733G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg527Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9239733G>C	NCI-TCGA
NTN1	O95631	p.Arg530His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9239742G>A	NCI-TCGA
NTN1	O95631	p.Gly531Arg	rs756910433	missense variant	-	NC_000017.11:g.9239744G>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp532Asn	rs778586513	missense variant	-	NC_000017.11:g.9239747G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Gln533His	rs1323074317	missense variant	-	NC_000017.11:g.9239752G>C	gnomAD
NTN1	O95631	p.Gln533Glu	rs1027810331	missense variant	-	NC_000017.11:g.9239750C>G	TOPMed
NTN1	O95631	p.Arg538Cys	rs1265292089	missense variant	-	NC_000017.11:g.9239765C>T	TOPMed
NTN1	O95631	p.Arg538His	rs771578807	missense variant	-	NC_000017.11:g.9239766G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg538Pro	rs771578807	missense variant	-	NC_000017.11:g.9239766G>C	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp541Gly	COSM986408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9239775A>G	NCI-TCGA Cosmic
NTN1	O95631	p.Ala543Thr	rs940885304	missense variant	-	NC_000017.11:g.9239780G>A	gnomAD
NTN1	O95631	p.Pro547Ser	rs751928074	missense variant	-	NC_000017.11:g.9239792C>T	gnomAD
NTN1	O95631	p.Lys548Glu	rs1281955856	missense variant	-	NC_000017.11:g.9239795A>G	gnomAD
NTN1	O95631	p.Lys548Thr	rs1316054908	missense variant	-	NC_000017.11:g.9239796A>C	gnomAD
NTN1	O95631	p.Ile549Met	rs372411993	missense variant	-	NC_000017.11:g.9239800C>G	ESP,TOPMed,gnomAD
NTN1	O95631	p.Pro551Ser	rs746951758	missense variant	-	NC_000017.11:g.9239804C>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Pro551Thr	rs746951758	missense variant	-	NC_000017.11:g.9239804C>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Lys553Met	rs1243790900	missense variant	-	NC_000017.11:g.9239811A>T	TOPMed,gnomAD
NTN1	O95631	p.Lys553Gln	rs768506222	missense variant	-	NC_000017.11:g.9239810A>C	ExAC,gnomAD
NTN1	O95631	p.Leu556Val	rs776341534	missense variant	-	NC_000017.11:g.9239819C>G	ExAC,gnomAD
NTN1	O95631	p.Gly559Ser	rs1419981732	missense variant	-	NC_000017.11:g.9239828G>A	gnomAD
NTN1	O95631	p.Asn560Ser	rs1162045663	missense variant	-	NC_000017.11:g.9239832A>G	gnomAD
NTN1	O95631	p.Asn560Lys	rs1404484921	missense variant	-	NC_000017.11:g.9239833C>A	gnomAD
NTN1	O95631	p.Ala561Gly	rs774523281	missense variant	-	NC_000017.11:g.9239835C>G	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala561Thr	rs766541731	missense variant	-	NC_000017.11:g.9239834G>A	ExAC,gnomAD
NTN1	O95631	p.Ala561Val	rs774523281	missense variant	-	NC_000017.11:g.9239835C>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp563His	rs1359220268	missense variant	-	NC_000017.11:g.9239840G>C	TOPMed,gnomAD
NTN1	O95631	p.Asp563Asn	rs1359220268	missense variant	-	NC_000017.11:g.9239840G>A	TOPMed,gnomAD
NTN1	O95631	p.Ser564Phe	COSM1303570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.9239844C>T	NCI-TCGA Cosmic
NTN1	O95631	p.Ser564Thr	rs1449790598	missense variant	-	NC_000017.11:g.9239843T>A	gnomAD
NTN1	O95631	p.Ser564Cys	rs1326281968	missense variant	-	NC_000017.11:g.9239844C>G	TOPMed
NTN1	O95631	p.Pro565Gln	rs1372383609	missense variant	-	NC_000017.11:g.9239847C>A	gnomAD
NTN1	O95631	p.Gln567Ter	rs1228728087	stop gained	-	NC_000017.11:g.9239852C>T	gnomAD
NTN1	O95631	p.Ser568Gly	rs1289958693	missense variant	-	NC_000017.11:g.9239855A>G	gnomAD
NTN1	O95631	p.Gly569Arg	rs767616324	missense variant	-	NC_000017.11:g.9239858G>C	ExAC,gnomAD
NTN1	O95631	p.Gly569Ser	rs767616324	missense variant	-	NC_000017.11:g.9239858G>A	ExAC,gnomAD
NTN1	O95631	p.Val571Met	rs199592596	missense variant	-	NC_000017.11:g.9239864G>A	1000Genomes,ExAC,TOPMed,gnomAD
NTN1	O95631	p.Ala572Val	rs756618575	missense variant	-	NC_000017.11:g.9239868C>T	ExAC,gnomAD
NTN1	O95631	p.Ala572Gly	rs756618575	missense variant	-	NC_000017.11:g.9239868C>G	ExAC,gnomAD
NTN1	O95631	p.Asp573Asn	rs1202701393	missense variant	-	NC_000017.11:g.9239870G>A	TOPMed,gnomAD
NTN1	O95631	p.Asp573Gly	rs764564681	missense variant	-	NC_000017.11:g.9239871A>G	ExAC,gnomAD
NTN1	O95631	p.Asp573His	rs1202701393	missense variant	-	NC_000017.11:g.9239870G>C	TOPMed,gnomAD
NTN1	O95631	p.Val578Ala	rs1184833926	missense variant	-	NC_000017.11:g.9239886T>C	gnomAD
NTN1	O95631	p.Val578Met	rs77968125	missense variant	-	NC_000017.11:g.9239885G>A	gnomAD
NTN1	O95631	p.Val578Leu	rs77968125	missense variant	-	NC_000017.11:g.9239885G>C	gnomAD
NTN1	O95631	p.Arg582Gln	rs754203987	missense variant	-	NC_000017.11:g.9239898G>A	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Arg582Leu	rs754203987	missense variant	-	NC_000017.11:g.9239898G>T	ExAC,TOPMed,gnomAD
NTN1	O95631	p.Asp583Ala	rs1177707494	missense variant	-	NC_000017.11:g.9239901A>C	gnomAD
NTN1	O95631	p.Thr584Arg	rs1425264637	missense variant	-	NC_000017.11:g.9239904C>G	gnomAD
NTN1	O95631	p.Ala586Thr	rs1415643317	missense variant	-	NC_000017.11:g.9239909G>A	gnomAD
NTN1	O95631	p.Arg587Trp	rs1326470780	missense variant	-	NC_000017.11:g.9239912C>T	gnomAD
NTN1	O95631	p.Arg587Gln	rs1353610676	missense variant	-	NC_000017.11:g.9239913G>A	gnomAD
NTN1	O95631	p.Arg588Trp	rs1410023585	missense variant	-	NC_000017.11:g.9239915C>T	TOPMed,gnomAD
NTN1	O95631	p.Arg590Pro	rs1309693313	missense variant	-	NC_000017.11:g.9239922G>C	TOPMed,gnomAD
NTN1	O95631	p.Arg590His	rs1309693313	missense variant	-	NC_000017.11:g.9239922G>A	TOPMed,gnomAD
NTN1	O95631	p.Gln593Arg	rs778747963	missense variant	-	NC_000017.11:g.9239931A>G	ExAC,gnomAD
NTN1	O95631	p.Gln594Ter	rs1275306683	stop gained	-	NC_000017.11:g.9239933C>T	gnomAD
NTN1	O95631	p.Lys598Arg	rs1427193309	missense variant	-	NC_000017.11:g.9239946A>G	TOPMed
NTN1	O95631	p.Gly599Ser	rs1458758706	missense variant	-	NC_000017.11:g.9239948G>A	TOPMed
NTN1	O95631	p.Gly599Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.9239949G>A	NCI-TCGA
NTN1	O95631	p.Lys600Thr	rs757903979	missense variant	-	NC_000017.11:g.9239952A>C	ExAC,gnomAD
NTN1	O95631	p.Cys601Ser	RCV000735956	missense variant	MIRROR MOVEMENTS 4 (MRMV4)	NC_000017.11:g.9239955G>C	ClinVar
NTN1	O95631	p.Cys601Arg	RCV000735954	missense variant	MIRROR MOVEMENTS 4 (MRMV4)	NC_000017.11:g.9239954T>C	ClinVar
NTN1	O95631	p.Cys601Arg	VAR_082027	Missense	Mirror movements 4 (MRMV4) [MIM:618264]	-	UniProt
NTN1	O95631	p.Cys601Ser	VAR_082028	Missense	Mirror movements 4 (MRMV4) [MIM:618264]	-	UniProt
NTN1	O95631	p.Lys602Gln	rs1207540547	missense variant	-	NC_000017.11:g.9239957A>C	TOPMed,gnomAD
NTN1	O95631	p.Ala604Val	rs1200817962	missense variant	-	NC_000017.11:g.9239964C>T	gnomAD
NTN1	O95631	p.Ala604Thr	rs746926114	missense variant	-	NC_000017.11:g.9239963G>A	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Pro2Leu	rs750105530	missense variant	-	NC_000020.11:g.49983064C>T	ExAC,gnomAD
SNAI1	O95863	p.Phe5Leu	rs1306992161	missense variant	-	NC_000020.11:g.49983072T>C	gnomAD
SNAI1	O95863	p.Val7Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49983079T>C	NCI-TCGA
SNAI1	O95863	p.Arg8Met	rs747327243	missense variant	-	NC_000020.11:g.49983082G>T	ExAC,gnomAD
SNAI1	O95863	p.Arg8Lys	rs747327243	missense variant	-	NC_000020.11:g.49983082G>A	ExAC,gnomAD
SNAI1	O95863	p.Pro10Leu	rs1293590680	missense variant	-	NC_000020.11:g.49983088C>T	gnomAD
SNAI1	O95863	p.Ser11Cys	rs781754058	missense variant	-	NC_000020.11:g.49983091C>G	ExAC,gnomAD
SNAI1	O95863	p.Ser11Pro	rs1315590662	missense variant	-	NC_000020.11:g.49983090T>C	TOPMed
SNAI1	O95863	p.Ser11Phe	rs781754058	missense variant	-	NC_000020.11:g.49983091C>T	ExAC,gnomAD
SNAI1	O95863	p.Pro13Ser	rs773103954	missense variant	-	NC_000020.11:g.49983096C>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Asn14Ser	rs763270707	missense variant	-	NC_000020.11:g.49983100A>G	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Lys16Arg	rs1236903654	missense variant	-	NC_000020.11:g.49983106A>G	gnomAD
SNAI1	O95863	p.Asn18Asp	rs771097482	missense variant	-	NC_000020.11:g.49983111A>G	ExAC,gnomAD
SNAI1	O95863	p.Glu21Gly	rs1166990801	missense variant	-	NC_000020.11:g.49983121A>G	gnomAD
SNAI1	O95863	p.Glu21Gln	rs1233970414	missense variant	-	NC_000020.11:g.49983120G>C	TOPMed,gnomAD
SNAI1	O95863	p.Leu22Gln	rs1454855390	missense variant	-	NC_000020.11:g.49983124T>A	TOPMed
SNAI1	O95863	p.Asp24Val	rs760434965	missense variant	-	NC_000020.11:g.49983130A>T	ExAC,gnomAD
SNAI1	O95863	p.Asp24Ala	rs760434965	missense variant	-	NC_000020.11:g.49983130A>C	ExAC,gnomAD
SNAI1	O95863	p.Ser25Cys	rs761598892	missense variant	-	NC_000020.11:g.49983133C>G	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Pro27Ala	rs749859499	missense variant	-	NC_000020.11:g.49983138C>G	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Phe31Leu	COSM3547612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49983834C>A	NCI-TCGA Cosmic
SNAI1	O95863	p.Gln32His	rs751241861	missense variant	-	NC_000020.11:g.49983837G>T	ExAC,gnomAD
SNAI1	O95863	p.Pro34Leu	rs754616561	missense variant	-	NC_000020.11:g.49983842C>T	ExAC,gnomAD
SNAI1	O95863	p.Tyr35Asn	COSM4099316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49983844T>A	NCI-TCGA Cosmic
SNAI1	O95863	p.Tyr35His	rs767925268	missense variant	-	NC_000020.11:g.49983844T>C	ExAC,gnomAD
SNAI1	O95863	p.Ala38Thr	rs1478192619	missense variant	-	NC_000020.11:g.49983853G>A	TOPMed,gnomAD
SNAI1	O95863	p.Leu40Gln	rs1233210777	missense variant	-	NC_000020.11:g.49983860T>A	TOPMed
SNAI1	O95863	p.Ala42Thr	rs1400010479	missense variant	-	NC_000020.11:g.49983865G>A	gnomAD
SNAI1	O95863	p.Ala43Asp	rs749440261	missense variant	-	NC_000020.11:g.49983869C>A	ExAC,gnomAD
SNAI1	O95863	p.Ile44Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49983872T>C	NCI-TCGA
SNAI1	O95863	p.Ile44Val	rs781403027	missense variant	-	NC_000020.11:g.49983871A>G	ExAC,gnomAD
SNAI1	O95863	p.Pro45Thr	rs778908255	missense variant	-	NC_000020.11:g.49983874C>A	ExAC,gnomAD
SNAI1	O95863	p.Pro47Leu	rs1259181798	missense variant	-	NC_000020.11:g.49983881C>T	TOPMed,gnomAD
SNAI1	O95863	p.Pro47Leu	rs1259181798	missense variant	-	NC_000020.11:g.49983881C>T	NCI-TCGA Cosmic
SNAI1	O95863	p.Glu48Asp	COSM117774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49983885G>C	NCI-TCGA Cosmic
SNAI1	O95863	p.Ile49Met	rs772242378	missense variant	-	NC_000020.11:g.49983888C>G	ExAC,gnomAD
SNAI1	O95863	p.Leu50Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49983889C>T	NCI-TCGA
SNAI1	O95863	p.Ala54Thr	rs747873945	missense variant	-	NC_000020.11:g.49983901G>A	ExAC,gnomAD
SNAI1	O95863	p.Ala54Val	rs1027943358	missense variant	-	NC_000020.11:g.49983902C>T	TOPMed
SNAI1	O95863	p.Ser55Leu	rs137950928	missense variant	-	NC_000020.11:g.49983905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Leu56Met	rs1488083794	missense variant	-	NC_000020.11:g.49983907C>A	gnomAD
SNAI1	O95863	p.Met58Val	rs762606596	missense variant	-	NC_000020.11:g.49983913A>G	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Leu59Phe	rs1461873794	missense variant	-	NC_000020.11:g.49983916C>T	TOPMed
SNAI1	O95863	p.Leu59His	rs765996675	missense variant	-	NC_000020.11:g.49983917T>A	ExAC,gnomAD
SNAI1	O95863	p.Ile60Ser	rs759288627	missense variant	-	NC_000020.11:g.49983920T>G	ExAC,gnomAD
SNAI1	O95863	p.Ser63Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49983929C>T	NCI-TCGA
SNAI1	O95863	p.Ser63Cys	COSM724226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49983929C>G	NCI-TCGA Cosmic
SNAI1	O95863	p.Ser63Tyr	rs1375832604	missense variant	-	NC_000020.11:g.49983929C>A	TOPMed,gnomAD
SNAI1	O95863	p.Val64Asp	COSM724225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49983932T>A	NCI-TCGA Cosmic
SNAI1	O95863	p.Val64Leu	rs1478997833	missense variant	-	NC_000020.11:g.49983931G>C	gnomAD
SNAI1	O95863	p.Ala66Val	rs34261470	missense variant	-	NC_000020.11:g.49983938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Ala66Glu	rs34261470	missense variant	-	NC_000020.11:g.49983938C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Pro67Arg	rs1417642689	missense variant	-	NC_000020.11:g.49983941C>G	gnomAD
SNAI1	O95863	p.Gln68His	rs754357479	missense variant	-	NC_000020.11:g.49983945A>C	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Gln70Glu	rs556428881	missense variant	-	NC_000020.11:g.49983949C>G	ExAC,gnomAD
SNAI1	O95863	p.Gln70Pro	rs778997862	missense variant	-	NC_000020.11:g.49983950A>C	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Gln70Ter	rs556428881	stop gained	-	NC_000020.11:g.49983949C>T	ExAC,gnomAD
SNAI1	O95863	p.Pro71Ser	rs1213204124	missense variant	-	NC_000020.11:g.49983952C>T	TOPMed
SNAI1	O95863	p.Pro71Thr	rs1213204124	missense variant	-	NC_000020.11:g.49983952C>A	TOPMed
SNAI1	O95863	p.Ile72Val	rs1321065670	missense variant	-	NC_000020.11:g.49983955A>G	gnomAD
SNAI1	O95863	p.Ala75Val	rs745898044	missense variant	-	NC_000020.11:g.49983965C>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Ala75Asp	rs745898044	missense variant	-	NC_000020.11:g.49983965C>A	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Leu77Arg	rs780107207	missense variant	-	NC_000020.11:g.49983971T>G	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Arg78Gln	rs748041292	missense variant	-	NC_000020.11:g.49983974G>A	NCI-TCGA,NCI-TCGA Cosmic
SNAI1	O95863	p.Arg78Gln	rs748041292	missense variant	-	NC_000020.11:g.49983974G>A	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Arg78Trp	rs893957614	missense variant	-	NC_000020.11:g.49983973C>T	TOPMed,gnomAD
SNAI1	O95863	p.Gln80His	rs769458952	missense variant	-	NC_000020.11:g.49983981G>C	ExAC,gnomAD
SNAI1	O95863	p.Ser82Arg	rs1351727234	missense variant	-	NC_000020.11:g.49983987T>A	gnomAD
SNAI1	O95863	p.Pro83Ser	rs1209298683	missense variant	-	NC_000020.11:g.49983988C>T	gnomAD
SNAI1	O95863	p.Val85Met	rs1324595808	missense variant	-	NC_000020.11:g.49983994G>A	TOPMed
SNAI1	O95863	p.Ala86Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49983997G>A	NCI-TCGA
SNAI1	O95863	p.Glu87Lys	rs773080496	missense variant	-	NC_000020.11:g.49984000G>A	ExAC,gnomAD
SNAI1	O95863	p.Leu88Pro	rs749239193	missense variant	-	NC_000020.11:g.49984004T>C	ExAC,gnomAD
SNAI1	O95863	p.Leu88Val	rs139386653	missense variant	-	NC_000020.11:g.49984003C>G	ESP,TOPMed
SNAI1	O95863	p.Ser92Pro	rs1237513391	missense variant	-	NC_000020.11:g.49984015T>C	gnomAD
SNAI1	O95863	p.Ser92Ter	rs1392283997	stop gained	-	NC_000020.11:g.49984016C>G	TOPMed
SNAI1	O95863	p.Asp93Glu	rs4647959	missense variant	-	NC_000020.11:g.49984020T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Asp95Asn	rs1380552928	missense variant	-	NC_000020.11:g.49984024G>A	gnomAD
SNAI1	O95863	p.Gly99Ala	rs1160955297	missense variant	-	NC_000020.11:g.49984037G>C	gnomAD
SNAI1	O95863	p.Gly99Ser	rs1364159669	missense variant	-	NC_000020.11:g.49984036G>A	TOPMed
SNAI1	O95863	p.Ser100Phe	rs1386831120	missense variant	-	NC_000020.11:g.49984040C>T	TOPMed,gnomAD
SNAI1	O95863	p.Pro102Ser	rs774995949	missense variant	-	NC_000020.11:g.49984045C>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Pro103His	rs969500219	missense variant	-	NC_000020.11:g.49984049C>A	TOPMed
SNAI1	O95863	p.Ser104AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.49984045C>-	NCI-TCGA
SNAI1	O95863	p.Pro108Leu	rs1263892553	missense variant	-	NC_000020.11:g.49984064C>T	gnomAD
SNAI1	O95863	p.Ala109Ser	rs1287163992	missense variant	-	NC_000020.11:g.49984066G>T	TOPMed
SNAI1	O95863	p.Pro110Ser	rs754163516	missense variant	-	NC_000020.11:g.49984069C>T	NCI-TCGA
SNAI1	O95863	p.Pro110Ser	rs754163516	missense variant	-	NC_000020.11:g.49984069C>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Ser111Leu	rs762332137	missense variant	-	NC_000020.11:g.49984073C>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Ser114Phe	rs774280694	missense variant	-	NC_000020.11:g.49984082C>T	NCI-TCGA,NCI-TCGA Cosmic
SNAI1	O95863	p.Ser114Phe	rs774280694	missense variant	-	NC_000020.11:g.49984082C>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Ser115Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49984085C>T	NCI-TCGA
SNAI1	O95863	p.Val118Ala	rs4647958	missense variant	-	NC_000020.11:g.49984094T>C	UniProt,dbSNP
SNAI1	O95863	p.Val118Ala	VAR_019969	missense variant	-	NC_000020.11:g.49984094T>C	UniProt
SNAI1	O95863	p.Val118Ala	rs4647958	missense variant	-	NC_000020.11:g.49984094T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Val118Phe	rs751740656	missense variant	-	NC_000020.11:g.49984093G>T	ExAC,gnomAD
SNAI1	O95863	p.Ser119Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49984097C>T	NCI-TCGA
SNAI1	O95863	p.Leu121Ser	rs777739502	missense variant	-	NC_000020.11:g.49984103T>C	ExAC,gnomAD
SNAI1	O95863	p.Glu122Gly	rs1400238466	missense variant	-	NC_000020.11:g.49984106A>G	TOPMed,gnomAD
SNAI1	O95863	p.Ala123Ser	rs1464466429	missense variant	-	NC_000020.11:g.49984108G>T	TOPMed,gnomAD
SNAI1	O95863	p.Glu124Lys	rs771035489	missense variant	-	NC_000020.11:g.49984111G>A	NCI-TCGA
SNAI1	O95863	p.Glu124Gln	rs771035489	missense variant	-	NC_000020.11:g.49984111G>C	ExAC,gnomAD
SNAI1	O95863	p.Glu124Lys	rs771035489	missense variant	-	NC_000020.11:g.49984111G>A	ExAC,gnomAD
SNAI1	O95863	p.Ala125Val	rs745445690	missense variant	-	NC_000020.11:g.49984115C>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Ala125Asp	rs745445690	missense variant	-	NC_000020.11:g.49984115C>A	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Tyr126Cys	rs774999329	missense variant	-	NC_000020.11:g.49984118A>G	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Gly131Asp	rs370954430	missense variant	-	NC_000020.11:g.49984133G>A	ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Leu132Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49984137G>T	NCI-TCGA
SNAI1	O95863	p.Gly133Arg	rs962565711	missense variant	-	NC_000020.11:g.49984138G>C	gnomAD
SNAI1	O95863	p.Gln134Arg	rs1482832618	missense variant	-	NC_000020.11:g.49984142A>G	gnomAD
SNAI1	O95863	p.Gln134Ter	COSM6093354	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.49984141C>T	NCI-TCGA Cosmic
SNAI1	O95863	p.Pro136Leu	COSM6159952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49984148C>T	NCI-TCGA Cosmic
SNAI1	O95863	p.Pro136Ser	rs1257870837	missense variant	-	NC_000020.11:g.49984147C>T	gnomAD
SNAI1	O95863	p.Lys137Asn	rs762132185	missense variant	-	NC_000020.11:g.49984152G>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Lys137Asn	rs762132185	missense variant	-	NC_000020.11:g.49984152G>C	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Lys137Arg	rs535949166	missense variant	-	NC_000020.11:g.49984151A>G	1000Genomes,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Gln138Leu	rs765800408	missense variant	-	NC_000020.11:g.49984154A>T	ExAC,gnomAD
SNAI1	O95863	p.Gln138Pro	rs765800408	missense variant	-	NC_000020.11:g.49984154A>C	ExAC,gnomAD
SNAI1	O95863	p.Ala140Val	rs1485334243	missense variant	-	NC_000020.11:g.49984160C>T	gnomAD
SNAI1	O95863	p.Ser143Phe	rs1222675553	missense variant	-	NC_000020.11:g.49984169C>T	gnomAD
SNAI1	O95863	p.Lys146Arg	rs1173230568	missense variant	-	NC_000020.11:g.49984178A>G	gnomAD
SNAI1	O95863	p.Asp147Asn	rs933859275	missense variant	-	NC_000020.11:g.49984180G>A	TOPMed
SNAI1	O95863	p.Asp147Gly	rs1355598832	missense variant	-	NC_000020.11:g.49984181A>G	gnomAD
SNAI1	O95863	p.Arg151Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49984193G>A	NCI-TCGA
SNAI1	O95863	p.Arg151Ter	rs1270380770	stop gained	-	NC_000020.11:g.49984192C>T	NCI-TCGA
SNAI1	O95863	p.Arg151Gly	rs1270380770	missense variant	-	NC_000020.11:g.49984192C>G	TOPMed,gnomAD
SNAI1	O95863	p.Arg151Ter	rs1270380770	stop gained	-	NC_000020.11:g.49984192C>T	TOPMed,gnomAD
SNAI1	O95863	p.Ala153Asp	rs751615554	missense variant	-	NC_000020.11:g.49984199C>A	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Ala153Thr	rs766370103	missense variant	-	NC_000020.11:g.49984198G>A	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Asn155Thr	rs781536435	missense variant	-	NC_000020.11:g.49984205A>C	ExAC,gnomAD
SNAI1	O95863	p.Asn155Ser	rs781536435	missense variant	-	NC_000020.11:g.49984205A>G	ExAC,gnomAD
SNAI1	O95863	p.Tyr158His	rs1340630367	missense variant	-	NC_000020.11:g.49984213T>C	TOPMed
SNAI1	O95863	p.Lys161Arg	rs772108022	missense variant	-	NC_000020.11:g.49984223A>G	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Leu164Phe	rs757108623	missense variant	-	NC_000020.11:g.49984231C>T	ExAC,gnomAD
SNAI1	O95863	p.Ala168Val	rs772006202	missense variant	-	NC_000020.11:g.49984244C>T	NCI-TCGA
SNAI1	O95863	p.Ala168Val	rs772006202	missense variant	-	NC_000020.11:g.49984244C>T	ExAC,gnomAD
SNAI1	O95863	p.Ala168Ser	rs745798537	missense variant	-	NC_000020.11:g.49984243G>T	ExAC
SNAI1	O95863	p.Lys170Glu	rs1199361493	missense variant	-	NC_000020.11:g.49984249A>G	gnomAD
SNAI1	O95863	p.Met171Val	rs1485795314	missense variant	-	NC_000020.11:g.49984252A>G	TOPMed,gnomAD
SNAI1	O95863	p.His172Asp	rs1409266525	missense variant	-	NC_000020.11:g.49984255C>G	gnomAD
SNAI1	O95863	p.His172Arg	rs1034650403	missense variant	-	NC_000020.11:g.49984256A>G	TOPMed
SNAI1	O95863	p.Arg174Ter	rs1465121323	stop gained	-	NC_000020.11:g.49984261C>T	TOPMed
SNAI1	O95863	p.Arg174Gln	rs1260566958	missense variant	-	NC_000020.11:g.49984262G>A	gnomAD
SNAI1	O95863	p.Arg174Gln	rs1260566958	missense variant	-	NC_000020.11:g.49984262G>A	NCI-TCGA
SNAI1	O95863	p.Thr177Met	rs746508066	missense variant	-	NC_000020.11:g.49984271C>T	ExAC,gnomAD
SNAI1	O95863	p.Thr177Pro	rs1489010712	missense variant	-	NC_000020.11:g.49984270A>C	gnomAD
SNAI1	O95863	p.Pro179His	rs533811343	missense variant	-	NC_000020.11:g.49984277C>A	1000Genomes,ExAC,gnomAD
SNAI1	O95863	p.Cys180Ter	rs558251214	stop gained	-	NC_000020.11:g.49984281C>A	1000Genomes,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Val181Leu	rs369673182	missense variant	-	NC_000020.11:g.49984282G>C	ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Val181Ile	rs369673182	missense variant	-	NC_000020.11:g.49984282G>A	ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Val181Ile	rs369673182	missense variant	-	NC_000020.11:g.49984282G>A	NCI-TCGA
SNAI1	O95863	p.Gly183Arg	rs544515729	missense variant	-	NC_000020.11:g.49984288G>A	NCI-TCGA
SNAI1	O95863	p.Gly183Arg	rs544515729	missense variant	-	NC_000020.11:g.49984288G>A	1000Genomes,ExAC,gnomAD
SNAI1	O95863	p.Cys185Tyr	rs1194895090	missense variant	-	NC_000020.11:g.49984295G>A	TOPMed
SNAI1	O95863	p.Gly186Arg	rs1317927184	missense variant	-	NC_000020.11:g.49984297G>A	NCI-TCGA
SNAI1	O95863	p.Gly186Arg	rs1317927184	missense variant	-	NC_000020.11:g.49984297G>A	TOPMed
SNAI1	O95863	p.Lys187Glu	COSM1412408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49984300A>G	NCI-TCGA Cosmic
SNAI1	O95863	p.Phe189Leu	COSM3547614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49984308C>G	NCI-TCGA Cosmic
SNAI1	O95863	p.Val199Phe	rs1239126992	missense variant	-	NC_000020.11:g.49984336G>T	gnomAD
SNAI1	O95863	p.Arg200Gln	COSM1027916	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49984340G>A	NCI-TCGA Cosmic
SNAI1	O95863	p.Arg200Trp	rs1283483177	missense variant	-	NC_000020.11:g.49984339C>T	gnomAD
SNAI1	O95863	p.Thr203Ser	rs1215903717	missense variant	-	NC_000020.11:g.49984349C>G	gnomAD
SNAI1	O95863	p.Glu205Lys	COSM1565724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49987874G>A	NCI-TCGA Cosmic
SNAI1	O95863	p.Pro207Ser	rs1283278596	missense variant	-	NC_000020.11:g.49987880C>T	NCI-TCGA
SNAI1	O95863	p.Pro207Ser	rs1283278596	missense variant	-	NC_000020.11:g.49987880C>T	gnomAD
SNAI1	O95863	p.Ser209Thr	rs775763372	missense variant	-	NC_000020.11:g.49987886T>A	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Ser209Cys	rs865912088	missense variant	-	NC_000020.11:g.49987887C>G	TOPMed
SNAI1	O95863	p.Ser209Pro	rs775763372	missense variant	-	NC_000020.11:g.49987886T>C	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Ser209Phe	rs865912088	missense variant	-	NC_000020.11:g.49987887C>T	TOPMed
SNAI1	O95863	p.His212Gln	COSM1027917	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49987897C>A	NCI-TCGA Cosmic
SNAI1	O95863	p.His212Arg	rs1336111017	missense variant	-	NC_000020.11:g.49987896A>G	gnomAD
SNAI1	O95863	p.His212Gln	rs1198641175	missense variant	-	NC_000020.11:g.49987897C>G	gnomAD
SNAI1	O95863	p.Arg215His	rs768825298	missense variant	-	NC_000020.11:g.49987905G>A	ExAC,gnomAD
SNAI1	O95863	p.Arg215Cys	rs760808201	missense variant	-	NC_000020.11:g.49987904C>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Arg215His	rs768825298	missense variant	-	NC_000020.11:g.49987905G>A	NCI-TCGA,NCI-TCGA Cosmic
SNAI1	O95863	p.Ala218Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49987914C>T	NCI-TCGA
SNAI1	O95863	p.Ala218Thr	rs891291611	missense variant	-	NC_000020.11:g.49987913G>A	TOPMed
SNAI1	O95863	p.Arg220His	COSM1412410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49987920G>A	NCI-TCGA Cosmic
SNAI1	O95863	p.Arg220Cys	rs1237145081	missense variant	-	NC_000020.11:g.49987919C>T	NCI-TCGA Cosmic
SNAI1	O95863	p.Arg220Cys	rs1237145081	missense variant	-	NC_000020.11:g.49987919C>T	gnomAD
SNAI1	O95863	p.Ser221Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49987923C>G	NCI-TCGA
SNAI1	O95863	p.Arg224Trp	rs1234024429	missense variant	-	NC_000020.11:g.49987931C>T	TOPMed,gnomAD
SNAI1	O95863	p.Ala225Thr	rs1190162275	missense variant	-	NC_000020.11:g.49987934G>A	gnomAD
SNAI1	O95863	p.Ala225Gly	rs766201407	missense variant	-	NC_000020.11:g.49987935C>G	ExAC,gnomAD
SNAI1	O95863	p.Leu227Pro	rs1477530045	missense variant	-	NC_000020.11:g.49987941T>C	gnomAD
SNAI1	O95863	p.Gln228Arg	rs759488579	missense variant	-	NC_000020.11:g.49987944A>G	ExAC,gnomAD
SNAI1	O95863	p.Ser231Ter	COSM4818447	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.49987953C>G	NCI-TCGA Cosmic
SNAI1	O95863	p.Asp232Tyr	rs1410353503	missense variant	-	NC_000020.11:g.49987955G>T	gnomAD
SNAI1	O95863	p.Val233Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49987959T>G	NCI-TCGA
SNAI1	O95863	p.Gln239Arg	rs1232707935	missense variant	-	NC_000020.11:g.49987977A>G	TOPMed
SNAI1	O95863	p.Ala240Val	rs377622092	missense variant	-	NC_000020.11:g.49987980C>T	ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Cys241Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49987983G>T	NCI-TCGA
SNAI1	O95863	p.Arg243Trp	COSM294839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49987988C>T	NCI-TCGA Cosmic
SNAI1	O95863	p.Arg243Gln	rs1216225175	missense variant	-	NC_000020.11:g.49987989G>A	NCI-TCGA Cosmic
SNAI1	O95863	p.Arg243Gln	rs1216225175	missense variant	-	NC_000020.11:g.49987989G>A	gnomAD
SNAI1	O95863	p.Ser246Cys	rs1342031448	missense variant	-	NC_000020.11:g.49987998C>G	gnomAD
SNAI1	O95863	p.Ser246Phe	rs1342031448	missense variant	-	NC_000020.11:g.49987998C>T	gnomAD
SNAI1	O95863	p.Arg247Pro	COSM459729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49988001G>C	NCI-TCGA Cosmic
SNAI1	O95863	p.Arg247Gln	rs753536560	missense variant	-	NC_000020.11:g.49988001G>A	ExAC,gnomAD
SNAI1	O95863	p.Arg247Ter	rs1278280804	stop gained	-	NC_000020.11:g.49988000C>T	gnomAD
SNAI1	O95863	p.Ser249Pro	rs1213364501	missense variant	-	NC_000020.11:g.49988006T>C	gnomAD
SNAI1	O95863	p.Leu250ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.49988010T>-	NCI-TCGA
SNAI1	O95863	p.His252Arg	rs1191549421	missense variant	-	NC_000020.11:g.49988016A>G	gnomAD
SNAI1	O95863	p.His252ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.49988014C>-	NCI-TCGA
SNAI1	O95863	p.Gln255Arg	rs779357818	missense variant	-	NC_000020.11:g.49988025A>G	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Gln255Leu	rs779357818	missense variant	-	NC_000020.11:g.49988025A>T	ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Glu256Gln	rs1171785260	missense variant	-	NC_000020.11:g.49988027G>C	gnomAD
SNAI1	O95863	p.Gly258Ser	rs151036730	missense variant	-	NC_000020.11:g.49988033G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Gly258Ser	rs151036730	missense variant	-	NC_000020.11:g.49988033G>A	NCI-TCGA
SNAI1	O95863	p.Cys259Gly	rs1359462524	missense variant	-	NC_000020.11:g.49988036T>G	gnomAD
SNAI1	O95863	p.Ser260Leu	COSM1307513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.49988040C>T	NCI-TCGA Cosmic
SNAI1	O95863	p.Gly261Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.49988042G>A	NCI-TCGA
SNAI1	O95863	p.Cys262Tyr	rs1328717238	missense variant	-	NC_000020.11:g.49988046G>A	gnomAD
SNAI1	O95863	p.Cys262Arg	rs747141400	missense variant	-	NC_000020.11:g.49988045T>C	ExAC,gnomAD
SNAI1	O95863	p.Arg264His	rs902610951	missense variant	-	NC_000020.11:g.49988052G>A	TOPMed
SNAI1	O95863	p.Arg264Cys	rs140860809	missense variant	-	NC_000020.11:g.49988051C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SNAI1	O95863	p.Arg264His	rs902610951	missense variant	-	NC_000020.11:g.49988052G>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Arg2Lys	rs201510161	missense variant	-	NC_000002.12:g.63588267C>T	TOPMed,gnomAD
WDPCP	O95876	p.Arg3Leu	rs1371805530	missense variant	-	NC_000002.12:g.63588264C>A	gnomAD
WDPCP	O95876	p.Glu4Lys	rs763789574	missense variant	-	NC_000002.12:g.63588262C>T	ExAC,gnomAD
WDPCP	O95876	p.Glu4Gly	rs1391058974	missense variant	-	NC_000002.12:g.63588261T>C	gnomAD
WDPCP	O95876	p.Phe5Leu	rs768802269	missense variant	-	NC_000002.12:g.63588259A>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Phe5Leu	RCV000173453	missense variant	-	NC_000002.12:g.63588259A>G	ClinVar
WDPCP	O95876	p.Cys6Trp	rs1362032318	missense variant	-	NC_000002.12:g.63588254G>C	gnomAD
WDPCP	O95876	p.Trp7Cys	rs1200911623	missense variant	-	NC_000002.12:g.63588251C>G	TOPMed,gnomAD
WDPCP	O95876	p.Asp8Glu	rs548483405	missense variant	-	NC_000002.12:g.63588248G>C	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp8Gly	rs1454378621	missense variant	-	NC_000002.12:g.63588249T>C	gnomAD
WDPCP	O95876	p.Ala9Pro	rs780151486	missense variant	-	NC_000002.12:g.63588247C>G	ExAC,gnomAD
WDPCP	O95876	p.Ser11Phe	rs370726731	missense variant	-	NC_000002.12:g.63588240G>A	ESP
WDPCP	O95876	p.Lys12Glu	rs377590271	missense variant	-	NC_000002.12:g.63588238T>C	ESP,gnomAD
WDPCP	O95876	p.Lys12Arg	rs1259548345	missense variant	-	NC_000002.12:g.63588237T>C	gnomAD
WDPCP	O95876	p.Ala13Val	rs1236091955	missense variant	-	NC_000002.12:g.63588234G>A	gnomAD
WDPCP	O95876	p.Ala14Ser	rs868406399	missense variant	-	NC_000002.12:g.63588232C>A	TOPMed
WDPCP	O95876	p.Ala14Thr	rs868406399	missense variant	-	NC_000002.12:g.63588232C>T	TOPMed
WDPCP	O95876	p.Ser16Arg	rs952535961	missense variant	-	NC_000002.12:g.63588226T>G	TOPMed,gnomAD
WDPCP	O95876	p.Arg17Cys	rs1319194316	missense variant	-	NC_000002.12:g.63588223G>A	gnomAD
WDPCP	O95876	p.Arg17His	rs200135406	missense variant	-	NC_000002.12:g.63588222C>T	1000Genomes
WDPCP	O95876	p.Ala18Val	rs370821757	missense variant	-	NC_000002.12:g.63588219G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala18Thr	rs1381507084	missense variant	-	NC_000002.12:g.63588220C>T	gnomAD
WDPCP	O95876	p.Ser19Phe	rs781606829	missense variant	-	NC_000002.12:g.63588216G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser20Cys	rs1435264991	missense variant	-	NC_000002.12:g.63588213G>C	gnomAD
WDPCP	O95876	p.Ser20Phe	rs1435264991	missense variant	-	NC_000002.12:g.63588213G>A	gnomAD
WDPCP	O95876	p.Pro21Leu	rs1450767741	missense variant	-	NC_000002.12:g.63588210G>A	TOPMed,gnomAD
WDPCP	O95876	p.Pro21Ser	rs1171221373	missense variant	-	NC_000002.12:g.63588211G>A	gnomAD
WDPCP	O95876	p.Pro21Arg	rs1450767741	missense variant	-	NC_000002.12:g.63588210G>C	TOPMed,gnomAD
WDPCP	O95876	p.Leu22Val	rs1005379118	missense variant	-	NC_000002.12:g.63588208G>C	TOPMed,gnomAD
WDPCP	O95876	p.Leu22Phe	rs1005379118	missense variant	-	NC_000002.12:g.63588208G>A	TOPMed,gnomAD
WDPCP	O95876	p.Pro23Leu	rs141340867	missense variant	-	NC_000002.12:g.63588204G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro23Gln	rs141340867	missense variant	-	NC_000002.12:g.63588204G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro23Gln	RCV000438895	missense variant	-	NC_000002.12:g.63588204G>T	ClinVar
WDPCP	O95876	p.Arg24Lys	rs906798293	missense variant	-	NC_000002.12:g.63588201C>T	gnomAD
WDPCP	O95876	p.Gln25Arg	rs1197970797	missense variant	-	NC_000002.12:g.63588198T>C	TOPMed
WDPCP	O95876	p.Gln25Lys	rs1324126661	missense variant	-	NC_000002.12:g.63588199G>T	TOPMed
WDPCP	O95876	p.Asp26Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63492940C>T	NCI-TCGA
WDPCP	O95876	p.Arg27Lys	rs369968640	missense variant	-	NC_000002.12:g.63492936C>T	ESP,ExAC,gnomAD
WDPCP	O95876	p.Asp28Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63492934C>T	NCI-TCGA
WDPCP	O95876	p.Asp28Tyr	rs1217604830	missense variant	-	NC_000002.12:g.63492934C>A	TOPMed
WDPCP	O95876	p.Asp28Val	RCV000296966	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63492933T>A	ClinVar
WDPCP	O95876	p.Asp28Val	rs144703991	missense variant	-	NC_000002.12:g.63492933T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser29Phe	rs1316436299	missense variant	-	NC_000002.12:g.63492930G>A	TOPMed
WDPCP	O95876	p.Cys31Tyr	rs1453842199	missense variant	-	NC_000002.12:g.63492924C>T	gnomAD
WDPCP	O95876	p.Gln33Ter	rs1014621428	stop gained	-	NC_000002.12:g.63492919G>A	TOPMed
WDPCP	O95876	p.Met34Ile	rs1233974354	missense variant	-	NC_000002.12:g.63492914C>T	TOPMed
WDPCP	O95876	p.Met34Val	rs773513195	missense variant	-	NC_000002.12:g.63492916T>C	ExAC,gnomAD
WDPCP	O95876	p.Ser35Pro	rs1488418430	missense variant	-	NC_000002.12:g.63492913A>G	TOPMed
WDPCP	O95876	p.Leu41Met	rs772412784	missense variant	-	NC_000002.12:g.63492895G>T	ExAC,gnomAD
WDPCP	O95876	p.His42Tyr	rs747767839	missense variant	-	NC_000002.12:g.63492892G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Trp44Arg	rs1280928455	missense variant	-	NC_000002.12:g.63492886A>G	gnomAD
WDPCP	O95876	p.Ser45Ala	rs1232978776	missense variant	-	NC_000002.12:g.63492883A>C	gnomAD
WDPCP	O95876	p.Leu46Ser	rs754565778	missense variant	-	NC_000002.12:g.63492879A>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Lys47Asn	rs1297341497	missense variant	-	NC_000002.12:g.63492875C>A	gnomAD
WDPCP	O95876	p.His51Tyr	rs779689937	missense variant	-	NC_000002.12:g.63492865G>A	ExAC,gnomAD
WDPCP	O95876	p.Ile52Leu	rs1288682629	missense variant	-	NC_000002.12:g.63492862T>G	gnomAD
WDPCP	O95876	p.Ala53Val	rs149347732	missense variant	-	NC_000002.12:g.63492858G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp54Asn	RCV000851198	missense variant	Orofaciodigital syndromes	NC_000002.12:g.63492856C>T	ClinVar
WDPCP	O95876	p.Asp54Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63487494T>G	NCI-TCGA
WDPCP	O95876	p.Asp54Asn	rs200322968	missense variant	-	NC_000002.12:g.63492856C>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg55Lys	RCV000000064	missense variant	Meckel syndrome, type 6, modifier of	NC_000002.12:g.63487491C>T	ClinVar
WDPCP	O95876	p.Arg55Lys	rs267606693	missense variant	-	NC_000002.12:g.63487491C>T	UniProt,dbSNP
WDPCP	O95876	p.Arg55Lys	VAR_064770	missense variant	-	NC_000002.12:g.63487491C>T	UniProt
WDPCP	O95876	p.Arg55Lys	rs267606693	missense variant	-	NC_000002.12:g.63487491C>T	gnomAD
WDPCP	O95876	p.Asp56His	rs375016562	missense variant	-	NC_000002.12:g.63487489C>G	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ile57Thr	rs757037739	missense variant	-	NC_000002.12:g.63487485A>G	ExAC,gnomAD
WDPCP	O95876	p.Gly58Arg	rs190629484	missense variant	-	NC_000002.12:g.63487483C>T	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Ile59Asn	RCV000206601	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63487479A>T	ClinVar
WDPCP	O95876	p.Ile59Asn	RCV000765695	missense variant	Orstavik Lindemann Solberg syndrome (CHDTHP)	NC_000002.12:g.63487479A>T	ClinVar
WDPCP	O95876	p.Ile59Asn	rs202196322	missense variant	-	NC_000002.12:g.63487479A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gln61His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63487472C>A	NCI-TCGA
WDPCP	O95876	p.Gln61Ter	COSM443089	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.63487474G>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Tyr63Cys	rs766457834	missense variant	-	NC_000002.12:g.63487467T>C	ExAC,gnomAD
WDPCP	O95876	p.Tyr63Asp	rs753990383	missense variant	-	NC_000002.12:g.63487468A>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp64Ala	rs760757593	missense variant	-	NC_000002.12:g.63487464T>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp64His	rs201067142	missense variant	-	NC_000002.12:g.63487465C>G	1000Genomes
WDPCP	O95876	p.Lys65Glu	rs750924240	missense variant	-	NC_000002.12:g.63487462T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp67Asn	rs768109210	missense variant	-	NC_000002.12:g.63487456C>T	ExAC,gnomAD
WDPCP	O95876	p.Pro68Thr	COSM1565512	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63487453G>T	NCI-TCGA Cosmic
WDPCP	O95876	p.Pro68Ala	rs1443379922	missense variant	-	NC_000002.12:g.63487453G>C	gnomAD
WDPCP	O95876	p.Ala70Val	rs141761524	missense variant	-	NC_000002.12:g.63486586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala70Thr	rs1255148028	missense variant	-	NC_000002.12:g.63487447C>T	TOPMed
WDPCP	O95876	p.Thr71Ile	rs752047428	missense variant	-	NC_000002.12:g.63486583G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.His73Arg	rs1481685257	missense variant	-	NC_000002.12:g.63486577T>C	TOPMed
WDPCP	O95876	p.Gly74Asp	rs368745542	missense variant	-	NC_000002.12:g.63486574C>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gly74Arg	rs200170138	missense variant	-	NC_000002.12:g.63486575C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Leu76Val	rs775316027	missense variant	-	NC_000002.12:g.63486569A>C	ExAC,gnomAD
WDPCP	O95876	p.Leu76Ser	rs1196288563	missense variant	-	NC_000002.12:g.63486568A>G	TOPMed,gnomAD
WDPCP	O95876	p.Glu77Lys	rs1448313453	missense variant	-	NC_000002.12:g.63486566C>T	gnomAD
WDPCP	O95876	p.Lys81Asn	rs1206045016	missense variant	-	NC_000002.12:g.63486552C>A	TOPMed,gnomAD
WDPCP	O95876	p.Lys81Arg	rs545984327	missense variant	-	NC_000002.12:g.63486553T>C	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Glu84Asp	rs201399904	missense variant	-	NC_000002.12:g.63486543C>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser85Leu	RCV000312569	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63484987G>A	ClinVar
WDPCP	O95876	p.Ser85Ala	rs866240226	missense variant	-	NC_000002.12:g.63486542A>C	TOPMed,gnomAD
WDPCP	O95876	p.Ser85Leu	rs886056225	missense variant	-	NC_000002.12:g.63484987G>A	-
WDPCP	O95876	p.Arg86Ter	rs757397946	stop gained	-	NC_000002.12:g.63484985G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg86Gln	rs1338130714	missense variant	-	NC_000002.12:g.63484984C>T	TOPMed,gnomAD
WDPCP	O95876	p.Tyr88Asp	rs752158034	missense variant	-	NC_000002.12:g.63484979A>C	ExAC,gnomAD
WDPCP	O95876	p.Pro89Leu	rs764662816	missense variant	-	NC_000002.12:g.63484975G>A	ExAC,gnomAD
WDPCP	O95876	p.Trp90Gly	rs1055592959	missense variant	-	NC_000002.12:g.63484973A>C	TOPMed,gnomAD
WDPCP	O95876	p.Trp90Cys	rs758930140	missense variant	-	NC_000002.12:g.63484971C>A	ExAC,gnomAD
WDPCP	O95876	p.Trp90Arg	rs1055592959	missense variant	-	NC_000002.12:g.63484973A>G	TOPMed,gnomAD
WDPCP	O95876	p.Thr91Met	RCV000550599	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63484969G>A	ClinVar
WDPCP	O95876	p.Thr91Met	rs753130718	missense variant	-	NC_000002.12:g.63484969G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Lys93Ter	RCV000722999	nonsense	-	NC_000002.12:g.63484964T>A	ClinVar
WDPCP	O95876	p.Lys93Ter	rs1188000133	stop gained	-	NC_000002.12:g.63484964T>A	gnomAD
WDPCP	O95876	p.Lys93Arg	rs776137173	missense variant	-	NC_000002.12:g.63484963T>C	ExAC,gnomAD
WDPCP	O95876	p.Arg96His	COSM1022204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63484954C>T	NCI-TCGA Cosmic
WDPCP	O95876	p.Arg96Cys	rs375338402	missense variant	-	NC_000002.12:g.63484955G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro97Thr	rs760148866	missense variant	-	NC_000002.12:g.63484952G>T	ExAC,gnomAD
WDPCP	O95876	p.Lys99Arg	rs772670414	missense variant	-	NC_000002.12:g.63484945T>C	ExAC,gnomAD
WDPCP	O95876	p.Lys99Asn	rs772019517	missense variant	-	NC_000002.12:g.63484944T>G	ExAC,gnomAD
WDPCP	O95876	p.Leu100Pro	rs748021209	missense variant	-	NC_000002.12:g.63484942A>G	ExAC,gnomAD
WDPCP	O95876	p.Arg101Gly	rs772536466	missense variant	-	NC_000002.12:g.63484940G>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg101Gln	rs746158542	missense variant	-	NC_000002.12:g.63484939C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg101Ter	rs772536466	stop gained	-	NC_000002.12:g.63484940G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp102Asn	rs757449444	missense variant	-	NC_000002.12:g.63484937C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp102Val	rs747112954	missense variant	-	NC_000002.12:g.63484936T>A	ExAC,gnomAD
WDPCP	O95876	p.Asp102His	rs757449444	missense variant	-	NC_000002.12:g.63484937C>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser103Leu	rs376758858	missense variant	-	NC_000002.12:g.63484933G>A	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Leu104Pro	rs1443820481	missense variant	-	NC_000002.12:g.63484930A>G	gnomAD
WDPCP	O95876	p.Lys105Arg	rs1335849245	missense variant	-	NC_000002.12:g.63484927T>C	gnomAD
WDPCP	O95876	p.Glu106Gln	rs1444169850	missense variant	-	NC_000002.12:g.63484925C>G	TOPMed,gnomAD
WDPCP	O95876	p.Glu106Asp	rs1187958864	missense variant	-	NC_000002.12:g.63484923C>A	gnomAD
WDPCP	O95876	p.Glu108Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63484919C>T	NCI-TCGA
WDPCP	O95876	p.Met111Ile	rs778069760	missense variant	-	NC_000002.12:g.63484655C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Met111Val	rs990151659	missense variant	-	NC_000002.12:g.63484657T>C	TOPMed,gnomAD
WDPCP	O95876	p.Met111Leu	rs990151659	missense variant	-	NC_000002.12:g.63484657T>A	TOPMed,gnomAD
WDPCP	O95876	p.Met111Thr	rs1392647874	missense variant	-	NC_000002.12:g.63484656A>G	TOPMed
WDPCP	O95876	p.Gln112Glu	rs758543575	missense variant	-	NC_000002.12:g.63484654G>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser114Arg	rs1338335449	missense variant	-	NC_000002.12:g.63484646A>C	TOPMed
WDPCP	O95876	p.Arg115Trp	rs1244796163	missense variant	-	NC_000002.12:g.63484645G>A	gnomAD
WDPCP	O95876	p.Arg115Gln	rs748871007	missense variant	-	NC_000002.12:g.63484644C>T	ExAC,gnomAD
WDPCP	O95876	p.Cys116Gly	rs779260550	missense variant	-	NC_000002.12:g.63484642A>C	ExAC,gnomAD
WDPCP	O95876	p.Lys120Asn	rs755473278	missense variant	-	NC_000002.12:g.63484628T>A	ExAC,gnomAD
WDPCP	O95876	p.Lys124Arg	rs1349404366	missense variant	-	NC_000002.12:g.63484617T>C	gnomAD
WDPCP	O95876	p.Tyr125Cys	rs1434073076	missense variant	-	NC_000002.12:g.63484614T>C	TOPMed,gnomAD
WDPCP	O95876	p.Cys127Tyr	rs754178598	missense variant	-	NC_000002.12:g.63484608C>T	ExAC,gnomAD
WDPCP	O95876	p.Leu129Pro	rs769057996	missense variant	-	NC_000002.12:g.63439870A>G	ExAC,gnomAD
WDPCP	O95876	p.Leu129Val	rs191796211	missense variant	-	NC_000002.12:g.63439871G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Leu136Pro	rs756456362	missense variant	-	NC_000002.12:g.63439849A>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Val137Met	rs369357607	missense variant	-	NC_000002.12:g.63439847C>T	ESP,TOPMed
WDPCP	O95876	p.Val137Ala	rs780789710	missense variant	-	NC_000002.12:g.63439846A>G	ExAC,gnomAD
WDPCP	O95876	p.Ser138Phe	rs756891717	missense variant	-	NC_000002.12:g.63439843G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser140Gly	rs1438057652	missense variant	-	NC_000002.12:g.63439838T>C	TOPMed
WDPCP	O95876	p.Ser142Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63439831G>A	NCI-TCGA
WDPCP	O95876	p.Ser142Pro	rs529607482	missense variant	-	NC_000002.12:g.63439832A>G	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro144Leu	rs769734014	missense variant	-	NC_000002.12:g.63439825G>A	gnomAD
WDPCP	O95876	p.Glu147Lys	rs759376788	missense variant	-	NC_000002.12:g.63439817C>T	ExAC,gnomAD
WDPCP	O95876	p.Val150Leu	rs1257847763	missense variant	-	NC_000002.12:g.63439808C>A	gnomAD
WDPCP	O95876	p.Ile151Leu	rs776529473	missense variant	-	NC_000002.12:g.63439805T>G	ExAC,gnomAD
WDPCP	O95876	p.Ile151Thr	rs1295892247	missense variant	-	NC_000002.12:g.63439804A>G	TOPMed
WDPCP	O95876	p.Asp152Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63439802C>A	NCI-TCGA
WDPCP	O95876	p.Asp152Asn	rs562112451	missense variant	-	NC_000002.12:g.63439802C>T	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Val156Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63439789A>G	NCI-TCGA
WDPCP	O95876	p.Val156Met	rs1344539774	missense variant	-	NC_000002.12:g.63439790C>T	TOPMed
WDPCP	O95876	p.Gly157Arg	rs762038165	missense variant	-	NC_000002.12:g.63439787C>T	ExAC,gnomAD
WDPCP	O95876	p.Lys158Arg	rs1395587134	missense variant	-	NC_000002.12:g.63439783T>C	gnomAD
WDPCP	O95876	p.Leu159Phe	rs1377092750	missense variant	-	NC_000002.12:g.63439781G>A	gnomAD
WDPCP	O95876	p.Asp162Val	rs749818404	missense variant	-	NC_000002.12:g.63439771T>A	ExAC,gnomAD
WDPCP	O95876	p.Thr163Ala	rs1462790647	missense variant	-	NC_000002.12:g.63439769T>C	gnomAD
WDPCP	O95876	p.Ile164Val	rs1223959785	missense variant	-	NC_000002.12:g.63439766T>C	TOPMed
WDPCP	O95876	p.Ile164Thr	rs770183610	missense variant	-	NC_000002.12:g.63439765A>G	ExAC,gnomAD
WDPCP	O95876	p.Ser165MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.63439762_63439763insA	NCI-TCGA
WDPCP	O95876	p.Thr170Arg	rs747737680	missense variant	-	NC_000002.12:g.63437545G>C	ExAC,gnomAD
WDPCP	O95876	p.Asp171Gly	rs1396072178	missense variant	-	NC_000002.12:g.63437542T>C	gnomAD
WDPCP	O95876	p.Asp171Glu	rs778635559	missense variant	-	NC_000002.12:g.63437541G>C	ExAC,TOPMed
WDPCP	O95876	p.Asp171Val	rs1396072178	missense variant	-	NC_000002.12:g.63437542T>A	gnomAD
WDPCP	O95876	p.Asp171Asn	rs1314222946	missense variant	-	NC_000002.12:g.63437543C>T	TOPMed,gnomAD
WDPCP	O95876	p.Ser172Arg	rs1170432187	missense variant	-	NC_000002.12:g.63437540T>G	TOPMed,gnomAD
WDPCP	O95876	p.Ile174Val	rs1426237499	missense variant	-	NC_000002.12:g.63437534T>C	gnomAD
WDPCP	O95876	p.Leu179Ser	rs768268182	missense variant	-	NC_000002.12:g.63437518A>G	ExAC,gnomAD
WDPCP	O95876	p.Ala180Pro	rs1477809561	missense variant	-	NC_000002.12:g.63437516C>G	gnomAD
WDPCP	O95876	p.Ala180Ser	rs1477809561	missense variant	-	NC_000002.12:g.63437516C>A	gnomAD
WDPCP	O95876	p.Gln181Arg	rs1027501157	missense variant	-	NC_000002.12:g.63437512T>C	gnomAD
WDPCP	O95876	p.Gln181Ter	rs749286148	stop gained	-	NC_000002.12:g.63437513G>A	ExAC,gnomAD
WDPCP	O95876	p.Leu184Pro	rs1198983391	missense variant	-	NC_000002.12:g.63437503A>G	TOPMed
WDPCP	O95876	p.Cys185Ter	RCV000150108	frameshift	Orstavik Lindemann Solberg syndrome (CHDTHP)	NC_000002.12:g.63437502_63437503del	ClinVar
WDPCP	O95876	p.Ile187Phe	rs780009570	missense variant	-	NC_000002.12:g.63437495T>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gln188His	rs1258495413	missense variant	-	NC_000002.12:g.63437490C>A	gnomAD
WDPCP	O95876	p.Thr190Ser	rs1217761219	missense variant	-	NC_000002.12:g.63437485G>C	gnomAD
WDPCP	O95876	p.Thr190Ala	rs1254476772	missense variant	-	NC_000002.12:g.63437486T>C	gnomAD
WDPCP	O95876	p.Lys192Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63437478C>A	NCI-TCGA
WDPCP	O95876	p.Lys192Glu	rs1181283818	missense variant	-	NC_000002.12:g.63437480T>C	TOPMed
WDPCP	O95876	p.Met193Lys	rs755962906	missense variant	-	NC_000002.12:g.63437476A>T	ExAC,gnomAD
WDPCP	O95876	p.Glu194Gly	rs750252971	missense variant	-	NC_000002.12:g.63437473T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Val198Ile	rs1213373814	missense variant	-	NC_000002.12:g.63437462C>T	gnomAD
WDPCP	O95876	p.Asn199Ser	rs755986494	missense variant	-	NC_000002.12:g.63437458T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg201Ile	COSM1022202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63437452C>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Arg201Gly	rs1376686758	missense variant	-	NC_000002.12:g.63437453T>C	TOPMed
WDPCP	O95876	p.Glu203Gly	rs1013955472	missense variant	-	NC_000002.12:g.63437446T>C	gnomAD
WDPCP	O95876	p.Glu203Asp	rs758621899	missense variant	-	NC_000002.12:g.63437445T>A	ExAC,gnomAD
WDPCP	O95876	p.Lys204AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.63437442T>-	NCI-TCGA
WDPCP	O95876	p.Leu205Pro	COSM1022201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63437440A>G	NCI-TCGA Cosmic
WDPCP	O95876	p.Leu205Phe	VAR_064771	Missense	-	-	UniProt
WDPCP	O95876	p.Leu208Phe	rs267606692	missense variant	-	NC_000002.12:g.63437430C>G	-
WDPCP	O95876	p.Leu208Phe	RCV000000063	missense variant	Bardet-Biedl syndrome 12, modifier of	NC_000002.12:g.63437430C>G	ClinVar
WDPCP	O95876	p.Lys211Ter	RCV000778622	frameshift	Bardet-Biedl syndrome 15 (BBS15)	NC_000002.12:g.63437423_63437424TA[3]	ClinVar
WDPCP	O95876	p.Ile212Leu	rs755148252	missense variant	-	NC_000002.12:g.63433936T>G	ExAC,gnomAD
WDPCP	O95876	p.Tyr214Cys	rs753967458	missense variant	-	NC_000002.12:g.63433929T>C	ExAC,gnomAD
WDPCP	O95876	p.Glu216Gly	rs1333840784	missense variant	-	NC_000002.12:g.63433923T>C	TOPMed,gnomAD
WDPCP	O95876	p.Pro218Ser	rs1377962528	missense variant	-	NC_000002.12:g.63433918G>A	TOPMed
WDPCP	O95876	p.Pro218Arg	rs1418335534	missense variant	-	NC_000002.12:g.63433917G>C	TOPMed
WDPCP	O95876	p.Gly219Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63433914C>T	NCI-TCGA
WDPCP	O95876	p.Gly219Ser	rs761312526	missense variant	-	NC_000002.12:g.63433915C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ile221Lys	rs768043376	missense variant	-	NC_000002.12:g.63433908A>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ile221Val	rs571641878	missense variant	-	NC_000002.12:g.63433909T>C	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Asn222Ser	rs1361250061	missense variant	-	NC_000002.12:g.63433905T>C	gnomAD
WDPCP	O95876	p.Glu226Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.63433894C>A	NCI-TCGA
WDPCP	O95876	p.Glu226Asp	rs1342443395	missense variant	-	NC_000002.12:g.63433892C>A	TOPMed
WDPCP	O95876	p.Glu226Val	rs774816454	missense variant	-	NC_000002.12:g.63433893T>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg227Gln	rs763859638	missense variant	-	NC_000002.12:g.63433890C>T	ExAC,gnomAD
WDPCP	O95876	p.Arg227Ter	rs894887380	stop gained	-	NC_000002.12:g.63433891G>A	gnomAD
WDPCP	O95876	p.Leu229Val	rs762453550	missense variant	-	NC_000002.12:g.63433885G>C	ExAC,gnomAD
WDPCP	O95876	p.Ala230Thr	rs937072665	missense variant	-	NC_000002.12:g.63433882C>T	TOPMed
WDPCP	O95876	p.Ala230Gly	rs372998753	missense variant	-	NC_000002.12:g.63433881G>C	ESP,ExAC,gnomAD
WDPCP	O95876	p.Ile231Val	rs769180655	missense variant	-	NC_000002.12:g.63433879T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asn232Lys	COSM1022200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63433874G>T	NCI-TCGA Cosmic
WDPCP	O95876	p.Asn232Ser	rs1284717514	missense variant	-	NC_000002.12:g.63433875T>C	gnomAD
WDPCP	O95876	p.Asn232Asp	rs1308555938	missense variant	-	NC_000002.12:g.63433876T>C	TOPMed
WDPCP	O95876	p.Cys233Tyr	rs547119553	missense variant	-	NC_000002.12:g.63433872C>T	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Val234Phe	rs1278881318	missense variant	-	NC_000002.12:g.63433870C>A	gnomAD
WDPCP	O95876	p.His235Leu	rs567879550	missense variant	-	NC_000002.12:g.63433866T>A	gnomAD
WDPCP	O95876	p.His235Tyr	rs770819356	missense variant	-	NC_000002.12:g.63433867G>A	ExAC,gnomAD
WDPCP	O95876	p.His235Pro	rs567879550	missense variant	-	NC_000002.12:g.63433866T>G	gnomAD
WDPCP	O95876	p.Val238Ala	COSM3799114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63433857A>G	NCI-TCGA Cosmic
WDPCP	O95876	p.Trp241Cys	rs1297712553	missense variant	-	NC_000002.12:g.63433847C>A	gnomAD
WDPCP	O95876	p.Pro243Ser	rs755235681	missense variant	-	NC_000002.12:g.63433843G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro243Leu	rs368933340	missense variant	-	NC_000002.12:g.63433842G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asn246Asp	rs756126533	missense variant	-	NC_000002.12:g.63433834T>C	ExAC,gnomAD
WDPCP	O95876	p.Asn246Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63433833T>C	NCI-TCGA
WDPCP	O95876	p.Asp247Asn	rs376249713	missense variant	-	NC_000002.12:g.63433831C>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Trp250Leu	rs982994460	missense variant	-	NC_000002.12:g.63433821C>A	TOPMed,gnomAD
WDPCP	O95876	p.Pro251Leu	rs1375700007	missense variant	-	NC_000002.12:g.63433818G>A	gnomAD
WDPCP	O95876	p.Trp252Gly	rs1235824613	missense variant	-	NC_000002.12:g.63433816A>C	TOPMed
WDPCP	O95876	p.Ala253Val	rs751984110	missense variant	-	NC_000002.12:g.63433812G>A	ExAC,gnomAD
WDPCP	O95876	p.Ala253Ser	rs531251663	missense variant	-	NC_000002.12:g.63433813C>A	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Pro254Ala	rs1208991441	missense variant	-	NC_000002.12:g.63433810G>C	gnomAD
WDPCP	O95876	p.Ile255Val	rs764485190	missense variant	-	NC_000002.12:g.63433807T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ile255Phe	rs764485190	missense variant	-	NC_000002.12:g.63433807T>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser256Ala	rs1261685009	missense variant	-	NC_000002.12:g.63433804A>C	gnomAD
WDPCP	O95876	p.Ser256Phe	COSM3582547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63433803G>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Ser257Phe	rs774989844	missense variant	-	NC_000002.12:g.63433800G>A	ExAC,gnomAD
WDPCP	O95876	p.Ser257Pro	rs762730482	missense variant	-	NC_000002.12:g.63433801A>G	ExAC,gnomAD
WDPCP	O95876	p.Lys259Arg	rs1213265788	missense variant	-	NC_000002.12:g.63433794T>C	gnomAD
WDPCP	O95876	p.Asp260Glu	rs758933889	missense variant	-	NC_000002.12:g.63433790G>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp260Glu	rs758933889	missense variant	-	NC_000002.12:g.63433790G>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg261Gly	rs776074518	missense variant	-	NC_000002.12:g.63433789T>C	ExAC,gnomAD
WDPCP	O95876	p.Asn263His	rs770872721	missense variant	-	NC_000002.12:g.63433783T>G	ExAC
WDPCP	O95876	p.Leu264Pro	rs1366001942	missense variant	-	NC_000002.12:g.63433779A>G	gnomAD
WDPCP	O95876	p.Leu266Phe	COSM1721594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63433774G>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Gly268Ser	rs17617459	missense variant	-	NC_000002.12:g.63433768C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gly268Ser	RCV000395293	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63433768C>T	ClinVar
WDPCP	O95876	p.Tyr269Cys	rs749575727	missense variant	-	NC_000002.12:g.63433764T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Tyr269His	rs1374748295	missense variant	-	NC_000002.12:g.63433765A>G	TOPMed
WDPCP	O95876	p.Ala270Thr	rs1309852123	missense variant	-	NC_000002.12:g.63433762C>T	TOPMed
WDPCP	O95876	p.Leu274Gln	rs1231005358	missense variant	-	NC_000002.12:g.63433749A>T	TOPMed
WDPCP	O95876	p.Glu275Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63433747C>T	NCI-TCGA
WDPCP	O95876	p.Leu277Val	rs1416119169	missense variant	-	NC_000002.12:g.63404654G>C	gnomAD
WDPCP	O95876	p.Ser279Cys	rs199751945	missense variant	-	NC_000002.12:g.63404647G>C	1000Genomes
WDPCP	O95876	p.Val280Ile	rs985656097	missense variant	-	NC_000002.12:g.63404645C>T	TOPMed,gnomAD
WDPCP	O95876	p.Val280Leu	rs985656097	missense variant	-	NC_000002.12:g.63404645C>G	TOPMed,gnomAD
WDPCP	O95876	p.Arg281Cys	rs747564290	missense variant	-	NC_000002.12:g.63404642G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg281His	rs3738877	missense variant	-	NC_000002.12:g.63404641C>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Thr282Arg	rs1241185405	missense variant	-	NC_000002.12:g.63404638G>C	gnomAD
WDPCP	O95876	p.Trp284Ter	COSM3582545	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.63404631C>T	NCI-TCGA Cosmic
WDPCP	O95876	p.Asp285Gly	rs758895280	missense variant	-	NC_000002.12:g.63404629T>C	ExAC,gnomAD
WDPCP	O95876	p.Pro286Ser	rs367653779	missense variant	-	NC_000002.12:g.63404627G>A	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro286Thr	rs367653779	missense variant	-	NC_000002.12:g.63404627G>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp288Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404621C>T	NCI-TCGA
WDPCP	O95876	p.Asp288Ala	rs779272205	missense variant	-	NC_000002.12:g.63404620T>G	ExAC,gnomAD
WDPCP	O95876	p.Val289Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404617A>G	NCI-TCGA
WDPCP	O95876	p.Arg290His	rs753480088	missense variant	-	NC_000002.12:g.63404614C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg290Cys	rs374934704	missense variant	-	NC_000002.12:g.63404615G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gly292Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404608C>T	NCI-TCGA
WDPCP	O95876	p.Gly292Val	rs1052730770	missense variant	-	NC_000002.12:g.63404608C>A	TOPMed
WDPCP	O95876	p.Thr293Ser	rs765923597	missense variant	-	NC_000002.12:g.63404605G>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Lys294Glu	rs200415678	missense variant	-	NC_000002.12:g.63404603T>C	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Tyr297His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404594A>G	NCI-TCGA
WDPCP	O95876	p.Thr301Ile	rs1230955367	missense variant	-	NC_000002.12:g.63404581G>A	TOPMed
WDPCP	O95876	p.His304Gln	rs749897540	missense variant	-	NC_000002.12:g.63404571G>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser305Ala	rs1015241062	missense variant	-	NC_000002.12:g.63404570A>C	TOPMed,gnomAD
WDPCP	O95876	p.Val306Ile	rs761751600	missense variant	-	NC_000002.12:g.63404567C>T	ExAC,gnomAD
WDPCP	O95876	p.Ser307Asn	rs983808509	missense variant	-	NC_000002.12:g.63404563C>T	TOPMed,gnomAD
WDPCP	O95876	p.Asp309Val	rs759892208	missense variant	-	NC_000002.12:g.63404557T>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp309His	rs768493342	missense variant	-	NC_000002.12:g.63404558C>G	ExAC
WDPCP	O95876	p.Lys310Glu	rs776966886	missense variant	-	NC_000002.12:g.63404555T>C	ExAC,gnomAD
WDPCP	O95876	p.Glu311Asp	rs771172633	missense variant	-	NC_000002.12:g.63404550C>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Glu311Asp	rs771172633	missense variant	-	NC_000002.12:g.63404550C>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Met313Leu	rs1262725557	missense variant	-	NC_000002.12:g.63404546T>G	gnomAD
WDPCP	O95876	p.Cys317Ser	rs1455098597	missense variant	-	NC_000002.12:g.63404534A>T	TOPMed
WDPCP	O95876	p.Ile318Val	rs747114578	missense variant	-	NC_000002.12:g.63404531T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Tyr319Asp	rs863224771	missense variant	-	NC_000002.12:g.63404528A>C	-
WDPCP	O95876	p.Tyr319Asp	RCV000198017	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404528A>C	ClinVar
WDPCP	O95876	p.Glu320Lys	rs1300287369	missense variant	-	NC_000002.12:g.63404525C>T	gnomAD
WDPCP	O95876	p.Arg323Trp	rs545767612	missense variant	-	NC_000002.12:g.63404516G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg323Gln	rs991936622	missense variant	-	NC_000002.12:g.63404515C>T	TOPMed,gnomAD
WDPCP	O95876	p.Ile326Val	rs1168767530	missense variant	-	NC_000002.12:g.63404507T>C	TOPMed
WDPCP	O95876	p.Gln327Ter	rs182144885	stop gained	-	NC_000002.12:g.63404504G>A	1000Genomes,TOPMed,gnomAD
WDPCP	O95876	p.Val329Met	RCV000224332	missense variant	-	NC_000002.12:g.63404498C>T	ClinVar
WDPCP	O95876	p.Val329Met	rs199959383	missense variant	-	NC_000002.12:g.63404498C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser330Leu	RCV000173873	missense variant	-	NC_000002.12:g.63404494G>A	ClinVar
WDPCP	O95876	p.Ser330Leu	rs374189367	missense variant	-	NC_000002.12:g.63404494G>A	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Val331Phe	rs376497851	missense variant	-	NC_000002.12:g.63404492C>A	ESP
WDPCP	O95876	p.Thr332Ser	COSM4095102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404488G>C	NCI-TCGA Cosmic
WDPCP	O95876	p.Thr332Ala	rs1378603364	missense variant	-	NC_000002.12:g.63404489T>C	gnomAD
WDPCP	O95876	p.Arg333Thr	rs541722180	missense variant	-	NC_000002.12:g.63404485C>G	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Ile334Val	rs1434318883	missense variant	-	NC_000002.12:g.63404483T>C	TOPMed
WDPCP	O95876	p.Pro335Leu	rs1295089252	missense variant	-	NC_000002.12:g.63404479G>A	TOPMed
WDPCP	O95876	p.Ser338Ter	COSM270816	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.63404470G>T	NCI-TCGA Cosmic
WDPCP	O95876	p.Lys339Asn	rs753529416	missense variant	-	NC_000002.12:g.63404466C>G	ExAC,gnomAD
WDPCP	O95876	p.Ala340Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404464G>A	NCI-TCGA
WDPCP	O95876	p.Ala340Ser	rs779714128	missense variant	-	NC_000002.12:g.63404465C>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ile341Val	rs1353827994	missense variant	-	NC_000002.12:g.63404462T>C	TOPMed
WDPCP	O95876	p.Ser342Asn	COSM259814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404458C>T	NCI-TCGA Cosmic
WDPCP	O95876	p.Cys343Tyr	rs755715881	missense variant	-	NC_000002.12:g.63404455C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg345Thr	rs772944911	missense variant	-	NC_000002.12:g.63404449C>G	ExAC,gnomAD
WDPCP	O95876	p.Asn346Ser	rs766982680	missense variant	-	NC_000002.12:g.63404446T>C	ExAC,gnomAD
WDPCP	O95876	p.Thr348Pro	rs751500756	missense variant	-	NC_000002.12:g.63404441T>G	ExAC,gnomAD
WDPCP	O95876	p.Glu349Lys	rs1320002594	missense variant	-	NC_000002.12:g.63404438C>T	gnomAD
WDPCP	O95876	p.Asp350Gly	rs1469275937	missense variant	-	NC_000002.12:g.63404434T>C	TOPMed
WDPCP	O95876	p.Lys351Asn	rs1278753501	missense variant	-	NC_000002.12:g.63404430T>G	gnomAD
WDPCP	O95876	p.Leu352Gln	rs373387599	missense variant	-	NC_000002.12:g.63404428A>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gly355Cys	COSM69946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404420C>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Gly355Ser	rs1234529209	missense variant	-	NC_000002.12:g.63404420C>T	TOPMed,gnomAD
WDPCP	O95876	p.Cys356Tyr	rs762801097	missense variant	-	NC_000002.12:g.63404416C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp358Val	rs775383194	missense variant	-	NC_000002.12:g.63404410T>A	ExAC,gnomAD
WDPCP	O95876	p.Ser360Leu	RCV000295044	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404404G>A	ClinVar
WDPCP	O95876	p.Ser360Ter	rs141011629	stop gained	-	NC_000002.12:g.63404404G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser360Pro	rs1334984869	missense variant	-	NC_000002.12:g.63404405A>G	gnomAD
WDPCP	O95876	p.Ser360Leu	rs141011629	missense variant	-	NC_000002.12:g.63404404G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Tyr364Phe	rs1468559179	missense variant	-	NC_000002.12:g.63404392T>A	gnomAD
WDPCP	O95876	p.Tyr364Ter	rs1403157274	stop gained	-	NC_000002.12:g.63404391A>C	gnomAD
WDPCP	O95876	p.Glu365Gly	rs201662623	missense variant	-	NC_000002.12:g.63404389T>C	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Glu365Gly	RCV000402624	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404389T>C	ClinVar
WDPCP	O95876	p.Glu365Gly	RCV000851200	missense variant	Joubert syndrome (JBTS)	NC_000002.12:g.63404389T>C	ClinVar
WDPCP	O95876	p.Glu365Lys	rs1006999848	missense variant	-	NC_000002.12:g.63404390C>T	TOPMed,gnomAD
WDPCP	O95876	p.His367Leu	rs748655540	missense variant	-	NC_000002.12:g.63404383T>A	ExAC,gnomAD
WDPCP	O95876	p.His367Gln	rs904401906	missense variant	-	NC_000002.12:g.63404382G>T	gnomAD
WDPCP	O95876	p.Arg368Cys	RCV000638345	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404381G>A	ClinVar
WDPCP	O95876	p.Arg368Cys	RCV000501700	missense variant	-	NC_000002.12:g.63404381G>A	ClinVar
WDPCP	O95876	p.Arg368Cys	rs769112221	missense variant	-	NC_000002.12:g.63404381G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg368Ser	rs769112221	missense variant	-	NC_000002.12:g.63404381G>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg368His	rs749677469	missense variant	-	NC_000002.12:g.63404380C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg369Ser	rs997670883	missense variant	-	NC_000002.12:g.63404376T>G	TOPMed
WDPCP	O95876	p.Val370Leu	rs1201601063	missense variant	-	NC_000002.12:g.63404375C>G	gnomAD
WDPCP	O95876	p.Val370Ala	rs1311761712	missense variant	-	NC_000002.12:g.63404374A>G	TOPMed
WDPCP	O95876	p.Thr371Ile	rs1458939612	missense variant	-	NC_000002.12:g.63404371G>A	TOPMed,gnomAD
WDPCP	O95876	p.Leu372His	rs780340046	missense variant	-	NC_000002.12:g.63404368A>T	ExAC,gnomAD
WDPCP	O95876	p.Leu373Phe	rs755766939	missense variant	-	NC_000002.12:g.63404364T>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala374Val	rs1244838887	missense variant	-	NC_000002.12:g.63404362G>A	gnomAD
WDPCP	O95876	p.Thr376Ile	rs1423057040	missense variant	-	NC_000002.12:g.63404356G>A	gnomAD
WDPCP	O95876	p.Thr376Ser	rs1462024913	missense variant	-	NC_000002.12:g.63404357T>A	gnomAD
WDPCP	O95876	p.Glu377Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404354C>T	NCI-TCGA
WDPCP	O95876	p.Ser381Leu	COSM6092171	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404341G>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Leu382Ile	rs932586698	missense variant	-	NC_000002.12:g.63404339A>T	TOPMed,gnomAD
WDPCP	O95876	p.Ile383Leu	rs745528880	missense variant	-	NC_000002.12:g.63404336T>G	ExAC,gnomAD
WDPCP	O95876	p.Ser384Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404332C>T	NCI-TCGA
WDPCP	O95876	p.Ser384Arg	rs1168767079	missense variant	-	NC_000002.12:g.63404331G>C	TOPMed,gnomAD
WDPCP	O95876	p.Pro387Ser	rs1402913621	missense variant	-	NC_000002.12:g.63404324G>A	gnomAD
WDPCP	O95876	p.Pro387Gln	rs1476483565	missense variant	-	NC_000002.12:g.63404323G>T	gnomAD
WDPCP	O95876	p.Ser388Asn	rs780625068	missense variant	-	NC_000002.12:g.63404320C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala390Ser	COSM6158709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404315C>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Ala390Val	rs756765091	missense variant	-	NC_000002.12:g.63404314G>A	ExAC,gnomAD
WDPCP	O95876	p.Ile391Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404312T>C	NCI-TCGA
WDPCP	O95876	p.Val394Gly	rs758359220	missense variant	-	NC_000002.12:g.63404302A>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Val394Phe	COSM722096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404303C>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Val394Ala	rs758359220	missense variant	-	NC_000002.12:g.63404302A>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser396Arg	rs936904170	missense variant	-	NC_000002.12:g.63404297T>G	TOPMed
WDPCP	O95876	p.Ser396Ile	rs769985636	missense variant	-	NC_000002.12:g.63404296C>A	ExAC,gnomAD
WDPCP	O95876	p.Gly399Arg	rs1422251882	missense variant	-	NC_000002.12:g.63404288C>T	TOPMed
WDPCP	O95876	p.Leu401Val	rs1040913823	missense variant	-	NC_000002.12:g.63404282A>C	TOPMed
WDPCP	O95876	p.Gln402His	rs1441739882	missense variant	-	NC_000002.12:g.63404277T>A	gnomAD
WDPCP	O95876	p.Ile403Ser	COSM1022196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404275A>C	NCI-TCGA Cosmic
WDPCP	O95876	p.Asp405Val	rs1157041765	missense variant	-	NC_000002.12:g.63404269T>A	TOPMed
WDPCP	O95876	p.Met406Val	rs939729364	missense variant	-	NC_000002.12:g.63404267T>C	gnomAD
WDPCP	O95876	p.Leu408Val	rs760868650	missense variant	-	NC_000002.12:g.63404261G>C	ExAC,gnomAD
WDPCP	O95876	p.Leu408Pro	rs1045070465	missense variant	-	NC_000002.12:g.63404260A>G	TOPMed
WDPCP	O95876	p.Ser409Tyr	rs767534837	missense variant	-	NC_000002.12:g.63404257G>T	ExAC,gnomAD
WDPCP	O95876	p.Ile411Val	rs761984635	missense variant	-	NC_000002.12:g.63404252T>C	ExAC,gnomAD
WDPCP	O95876	p.Ile411Leu	rs761984635	missense variant	-	NC_000002.12:g.63404252T>G	ExAC,gnomAD
WDPCP	O95876	p.Asp419Gly	rs1468517777	missense variant	-	NC_000002.12:g.63404227T>C	gnomAD
WDPCP	O95876	p.Arg420His	rs749726622	missense variant	-	NC_000002.12:g.63404224C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg420Cys	rs769165669	missense variant	-	NC_000002.12:g.63404225G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Leu421Phe	RCV000537132	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404220T>G	ClinVar
WDPCP	O95876	p.Leu421Phe	rs189817127	missense variant	-	NC_000002.12:g.63404220T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro422His	rs770130590	missense variant	-	NC_000002.12:g.63404218G>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro422Leu	rs770130590	missense variant	-	NC_000002.12:g.63404218G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg423Gly	rs745555236	missense variant	-	NC_000002.12:g.63404216T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Glu424Ter	rs374062508	stop gained	-	NC_000002.12:g.63404213C>A	ESP,ExAC,gnomAD
WDPCP	O95876	p.Thr425Ile	rs917989756	missense variant	-	NC_000002.12:g.63404209G>A	TOPMed
WDPCP	O95876	p.Leu426Gln	COSM477560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404206A>T	NCI-TCGA Cosmic
WDPCP	O95876	p.Ser429Gly	rs756815232	missense variant	-	NC_000002.12:g.63404198T>C	ExAC,gnomAD
WDPCP	O95876	p.Lys430Gln	rs1381115647	missense variant	-	NC_000002.12:g.63404195T>G	gnomAD
WDPCP	O95876	p.Leu431Val	rs746549040	missense variant	-	NC_000002.12:g.63404192A>C	ExAC,gnomAD
WDPCP	O95876	p.Leu431Ter	rs537697456	stop gained	-	NC_000002.12:g.63404191A>T	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Phe432Ser	rs758480274	missense variant	-	NC_000002.12:g.63404188A>G	ExAC,gnomAD
WDPCP	O95876	p.Asp433Tyr	rs1266211459	missense variant	-	NC_000002.12:g.63404186C>A	gnomAD
WDPCP	O95876	p.Ala434Gly	rs1255748699	missense variant	-	NC_000002.12:g.63404182G>C	TOPMed
WDPCP	O95876	p.Ser436Arg	rs1354054730	missense variant	-	NC_000002.12:g.63404175G>T	gnomAD
WDPCP	O95876	p.Ser436Asn	rs1218126119	missense variant	-	NC_000002.12:g.63404176C>T	gnomAD
WDPCP	O95876	p.Ser437Ile	RCV000344015	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404173C>A	ClinVar
WDPCP	O95876	p.Ser437Ile	rs367727948	missense variant	-	NC_000002.12:g.63404173C>A	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Val439Ile	rs199676595	missense variant	-	NC_000002.12:g.63404168C>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Val439Ile	RCV000168404	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404168C>T	ClinVar
WDPCP	O95876	p.Met441Thr	rs886056224	missense variant	-	NC_000002.12:g.63404161A>G	-
WDPCP	O95876	p.Met441Thr	RCV000291456	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404161A>G	ClinVar
WDPCP	O95876	p.Ile444Arg	rs373940251	missense variant	-	NC_000002.12:g.63404152A>C	TOPMed,gnomAD
WDPCP	O95876	p.Ala445Pro	rs61734466	missense variant	-	NC_000002.12:g.63404150C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala445Ser	rs61734466	missense variant	-	NC_000002.12:g.63404150C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala445Pro	RCV000383591	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63404150C>G	ClinVar
WDPCP	O95876	p.Pro446Ser	rs751645563	missense variant	-	NC_000002.12:g.63404147G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gln447His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404142C>A	NCI-TCGA
WDPCP	O95876	p.Lys452Asn	COSM6158710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404127C>G	NCI-TCGA Cosmic
WDPCP	O95876	p.Gly453Ser	RCV000499631	missense variant	-	NC_000002.12:g.63404126C>T	ClinVar
WDPCP	O95876	p.Gly453Ser	rs1553378249	missense variant	-	NC_000002.12:g.63404126C>T	-
WDPCP	O95876	p.Glu454Ter	rs763507671	stop gained	-	NC_000002.12:g.63404123C>A	ExAC,gnomAD
WDPCP	O95876	p.Gly455Asp	rs775953831	missense variant	-	NC_000002.12:g.63404119C>T	ExAC,gnomAD
WDPCP	O95876	p.Ser456Gly	rs770094615	missense variant	-	NC_000002.12:g.63404117T>C	ExAC,gnomAD
WDPCP	O95876	p.Ser456Asn	rs1399108904	missense variant	-	NC_000002.12:g.63404116C>T	gnomAD
WDPCP	O95876	p.Ile458Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404110A>G	NCI-TCGA
WDPCP	O95876	p.Ile458Met	COSM722099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404109G>C	NCI-TCGA Cosmic
WDPCP	O95876	p.Tyr459Cys	rs759973492	missense variant	-	NC_000002.12:g.63404107T>C	ExAC,gnomAD
WDPCP	O95876	p.Asp460Val	rs367834809	missense variant	-	NC_000002.12:g.63404104T>A	ESP,ExAC,gnomAD
WDPCP	O95876	p.Leu462Phe	rs1427106654	missense variant	-	NC_000002.12:g.63404099G>A	gnomAD
WDPCP	O95876	p.Leu464Val	rs1419572074	missense variant	-	NC_000002.12:g.63404093G>C	TOPMed
WDPCP	O95876	p.Leu464His	rs1195284455	missense variant	-	NC_000002.12:g.63404092A>T	gnomAD
WDPCP	O95876	p.Arg465Thr	rs777486236	missense variant	-	NC_000002.12:g.63404089C>G	ExAC,gnomAD
WDPCP	O95876	p.Arg465Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404089C>A	NCI-TCGA
WDPCP	O95876	p.Arg465Gly	rs746640000	missense variant	-	NC_000002.12:g.63404090T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Phe466Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404085A>T	NCI-TCGA
WDPCP	O95876	p.Arg468Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63404080C>T	NCI-TCGA
WDPCP	O95876	p.Arg468Gly	COSM722100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63404081T>C	NCI-TCGA Cosmic
WDPCP	O95876	p.Gly469Val	rs1375712939	missense variant	-	NC_000002.12:g.63404077C>A	TOPMed
WDPCP	O95876	p.Val473Met	rs374807784	missense variant	-	NC_000002.12:g.63404066C>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Phe476Leu	rs753681723	missense variant	-	NC_000002.12:g.63404057A>G	ExAC,gnomAD
WDPCP	O95876	p.Gly479Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63382094C>T	NCI-TCGA
WDPCP	O95876	p.Gly479Ala	rs1245545358	missense variant	-	NC_000002.12:g.63382094C>G	gnomAD
WDPCP	O95876	p.Gly479Arg	rs779649886	missense variant	-	NC_000002.12:g.63404048C>G	ExAC,gnomAD
WDPCP	O95876	p.Val480Ile	RCV000765694	missense variant	Orstavik Lindemann Solberg syndrome (CHDTHP)	NC_000002.12:g.63382092C>T	ClinVar
WDPCP	O95876	p.Val480Ile	RCV000638348	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63382092C>T	ClinVar
WDPCP	O95876	p.Val480Ile	rs201412509	missense variant	-	NC_000002.12:g.63382092C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Val480Phe	rs201412509	missense variant	-	NC_000002.12:g.63382092C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Phe481Val	rs1391760964	missense variant	-	NC_000002.12:g.63382089A>C	gnomAD
WDPCP	O95876	p.Arg483Ter	rs768036084	stop gained	-	NC_000002.12:g.63382083G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg483Gln	rs544657165	missense variant	-	NC_000002.12:g.63382082C>T	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg483Gln	RCV000624967	missense variant	Bardet-Biedl syndrome 1 (BBS1)	NC_000002.12:g.63382082C>T	ClinVar
WDPCP	O95876	p.Gly484Glu	rs750245323	missense variant	-	NC_000002.12:g.63382079C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gln485Glu	rs1381164557	missense variant	-	NC_000002.12:g.63382077G>C	TOPMed
WDPCP	O95876	p.Gly487Ala	rs769679304	missense variant	-	NC_000002.12:g.63382070C>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Leu488Val	rs1422417437	missense variant	-	NC_000002.12:g.63382068G>C	gnomAD
WDPCP	O95876	p.Leu488Pro	COSM722101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63382067A>G	NCI-TCGA Cosmic
WDPCP	O95876	p.Ile489Thr	rs370842356	missense variant	-	NC_000002.12:g.63382064A>G	ESP,TOPMed
WDPCP	O95876	p.Ile491Val	rs1160883774	missense variant	-	NC_000002.12:g.63382059T>C	gnomAD
WDPCP	O95876	p.Phe493Leu	rs368313345	missense variant	-	NC_000002.12:g.63382051G>C	ESP,ExAC
WDPCP	O95876	p.His497Gln	rs577571642	missense variant	-	NC_000002.12:g.63382039G>C	1000Genomes,TOPMed,gnomAD
WDPCP	O95876	p.Cys498Gly	rs758621800	missense variant	-	NC_000002.12:g.63382038A>C	ExAC,gnomAD
WDPCP	O95876	p.Ile501TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.63382029_63382030insGAGTTTTGTATATA	NCI-TCGA
WDPCP	O95876	p.Tyr502Ser	rs559295906	missense variant	-	NC_000002.12:g.63382025T>G	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Tyr502Cys	rs559295906	missense variant	-	NC_000002.12:g.63382025T>C	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala504Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63382020C>A	NCI-TCGA
WDPCP	O95876	p.Ala504Thr	rs1489723769	missense variant	-	NC_000002.12:g.63382020C>T	gnomAD
WDPCP	O95876	p.Ala504Val	rs1462636982	missense variant	-	NC_000002.12:g.63382019G>A	TOPMed
WDPCP	O95876	p.Ile505Val	rs1042418470	missense variant	-	NC_000002.12:g.63382017T>C	TOPMed
WDPCP	O95876	p.Ile507Val	rs754985173	missense variant	-	NC_000002.12:g.63382011T>C	ExAC,gnomAD
WDPCP	O95876	p.Ile507Phe	rs754985173	missense variant	-	NC_000002.12:g.63382011T>A	ExAC,gnomAD
WDPCP	O95876	p.Ser509Gly	rs574567870	missense variant	-	NC_000002.12:g.63382005T>C	TOPMed
WDPCP	O95876	p.Ser510Arg	rs1417068972	missense variant	-	NC_000002.12:g.63382000G>T	TOPMed
WDPCP	O95876	p.Trp513Ter	rs753917889	stop gained	-	NC_000002.12:g.63381991C>T	ExAC,gnomAD
WDPCP	O95876	p.Asp514Asn	rs1239965172	missense variant	-	NC_000002.12:g.63381990C>T	gnomAD
WDPCP	O95876	p.Leu516Val	rs766821661	missense variant	-	NC_000002.12:g.63381984G>C	ExAC,gnomAD
WDPCP	O95876	p.Phe521Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63381968A>T	NCI-TCGA
WDPCP	O95876	p.Ile522Asn	rs750822710	missense variant	-	NC_000002.12:g.63381965A>T	ExAC,gnomAD
WDPCP	O95876	p.Ser525Asn	rs1402538022	missense variant	-	NC_000002.12:g.63381956C>T	gnomAD
WDPCP	O95876	p.Ala526Thr	rs534102944	missense variant	-	NC_000002.12:g.63381954C>T	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ile527Thr	rs773852077	missense variant	-	NC_000002.12:g.63381950A>G	ExAC,gnomAD
WDPCP	O95876	p.Asn529Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63381944T>G	NCI-TCGA
WDPCP	O95876	p.His530Arg	rs1450898477	missense variant	-	NC_000002.12:g.63381941T>C	TOPMed
WDPCP	O95876	p.Leu531Ile	rs1157344279	missense variant	-	NC_000002.12:g.63381939G>T	gnomAD
WDPCP	O95876	p.Gln534Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63381929T>C	NCI-TCGA
WDPCP	O95876	p.Gln534Lys	rs987143451	missense variant	-	NC_000002.12:g.63381930G>T	gnomAD
WDPCP	O95876	p.Leu536Val	rs955196377	missense variant	-	NC_000002.12:g.63381924G>C	TOPMed,gnomAD
WDPCP	O95876	p.Glu541Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63381909C>T	NCI-TCGA
WDPCP	O95876	p.Glu541Gln	rs775015955	missense variant	-	NC_000002.12:g.63381909C>G	ExAC,gnomAD
WDPCP	O95876	p.Ala542Ser	rs769732237	missense variant	-	NC_000002.12:g.63381906C>A	ExAC,gnomAD
WDPCP	O95876	p.Leu544His	rs1201712340	missense variant	-	NC_000002.12:g.63378503A>T	gnomAD
WDPCP	O95876	p.Glu545Asp	rs752149936	missense variant	-	NC_000002.12:g.63378499C>G	ExAC
WDPCP	O95876	p.Ser547Asn	rs764719249	missense variant	-	NC_000002.12:g.63378494C>T	ExAC,gnomAD
WDPCP	O95876	p.Ser547Thr	rs764719249	missense variant	-	NC_000002.12:g.63378494C>G	ExAC,gnomAD
WDPCP	O95876	p.Thr550Asn	rs567533706	missense variant	-	NC_000002.12:g.63378485G>T	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Phe551Ser	rs1333720503	missense variant	-	NC_000002.12:g.63378482A>G	gnomAD
WDPCP	O95876	p.Phe551Val	rs992864301	missense variant	-	NC_000002.12:g.63378483A>C	TOPMed
WDPCP	O95876	p.Tyr552Cys	rs372500548	missense variant	-	NC_000002.12:g.63378479T>C	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala553Ser	rs1234580147	missense variant	-	NC_000002.12:g.63378477C>A	TOPMed
WDPCP	O95876	p.Pro554Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63378474G>T	NCI-TCGA
WDPCP	O95876	p.Thr555Lys	rs1336432510	missense variant	-	NC_000002.12:g.63378470G>T	gnomAD
WDPCP	O95876	p.Pro557Leu	rs760413825	missense variant	-	NC_000002.12:g.63378464G>A	ExAC,gnomAD
WDPCP	O95876	p.Ser561Phe	COSM722103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63378452G>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Ile563Val	rs1168632851	missense variant	-	NC_000002.12:g.63378447T>C	TOPMed,gnomAD
WDPCP	O95876	p.Glu565Lys	rs768769733	missense variant	-	NC_000002.12:g.63378441C>T	ExAC
WDPCP	O95876	p.Arg567Gly	rs1371340322	missense variant	-	NC_000002.12:g.63378435T>C	gnomAD
WDPCP	O95876	p.Gln569Leu	RCV000322028	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63378428T>A	ClinVar
WDPCP	O95876	p.Gln569Glu	rs1026359002	missense variant	-	NC_000002.12:g.63378429G>C	TOPMed
WDPCP	O95876	p.Gln569Arg	rs780342443	missense variant	-	NC_000002.12:g.63378428T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gln569Leu	rs780342443	missense variant	-	NC_000002.12:g.63378428T>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Lys572Thr	rs1458647975	missense variant	-	NC_000002.12:g.63378419T>G	TOPMed
WDPCP	O95876	p.Tyr573His	rs1445410385	missense variant	-	NC_000002.12:g.63378417A>G	gnomAD
WDPCP	O95876	p.Arg575Thr	rs746415470	missense variant	-	NC_000002.12:g.63378410C>G	ExAC,gnomAD
WDPCP	O95876	p.Phe577Val	RCV000195475	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63378405A>C	ClinVar
WDPCP	O95876	p.Phe577Val	rs141845729	missense variant	-	NC_000002.12:g.63378405A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Phe577Cys	rs1439554090	missense variant	-	NC_000002.12:g.63378404A>C	TOPMed,gnomAD
WDPCP	O95876	p.Phe577Leu	rs141845729	missense variant	-	NC_000002.12:g.63378405A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Phe577Leu	rs778132438	missense variant	-	NC_000002.12:g.63378403G>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.His579Tyr	rs1336889689	missense variant	-	NC_000002.12:g.63378399G>A	gnomAD
WDPCP	O95876	p.His580Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63378396G>A	NCI-TCGA
WDPCP	O95876	p.His580Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63378395T>C	NCI-TCGA
WDPCP	O95876	p.Leu582Val	rs377588151	missense variant	-	NC_000002.12:g.63378390G>C	ESP,TOPMed
WDPCP	O95876	p.Arg583Ser	rs994455388	missense variant	-	NC_000002.12:g.63313311C>G	TOPMed
WDPCP	O95876	p.Gln585His	rs1345982636	missense variant	-	NC_000002.12:g.63313305C>G	gnomAD
WDPCP	O95876	p.Lys589Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63313294T>C	NCI-TCGA
WDPCP	O95876	p.Ala590Thr	rs1398725626	missense variant	-	NC_000002.12:g.63313292C>T	gnomAD
WDPCP	O95876	p.Ala594Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63313279G>A	NCI-TCGA
WDPCP	O95876	p.Val595Asp	rs761696659	missense variant	-	NC_000002.12:g.63313276A>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp596Tyr	rs774236081	missense variant	-	NC_000002.12:g.63313274C>A	ExAC,gnomAD
WDPCP	O95876	p.Asp596Glu	rs185980830	missense variant	-	NC_000002.12:g.63313272G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp596His	rs774236081	missense variant	-	NC_000002.12:g.63313274C>G	ExAC,gnomAD
WDPCP	O95876	p.Val597Ile	rs776917693	missense variant	-	NC_000002.12:g.63313271C>T	NCI-TCGA
WDPCP	O95876	p.Val597Ile	rs776917693	missense variant	-	NC_000002.12:g.63313271C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gly598Asp	rs771029060	missense variant	-	NC_000002.12:g.63313267C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala599Val	rs1265346351	missense variant	-	NC_000002.12:g.63313264G>A	gnomAD
WDPCP	O95876	p.Arg600Cys	rs747517141	missense variant	-	NC_000002.12:g.63313262G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg600His	rs375036014	missense variant	-	NC_000002.12:g.63313261C>T	NCI-TCGA,NCI-TCGA Cosmic
WDPCP	O95876	p.Arg600Pro	rs375036014	missense variant	-	NC_000002.12:g.63313261C>G	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg600His	rs375036014	missense variant	-	NC_000002.12:g.63313261C>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Met604Val	rs1389225319	missense variant	-	NC_000002.12:g.63313250T>C	TOPMed
WDPCP	O95876	p.Ile606Met	rs1473946923	missense variant	-	NC_000002.12:g.63259404A>C	TOPMed,gnomAD
WDPCP	O95876	p.Tyr608Ter	rs1316983206	stop gained	-	NC_000002.12:g.63259398G>C	TOPMed
WDPCP	O95876	p.Leu609Ile	rs1240792153	missense variant	-	NC_000002.12:g.63259397G>T	TOPMed
WDPCP	O95876	p.Leu611Val	rs1299815762	missense variant	-	NC_000002.12:g.63259391G>C	gnomAD
WDPCP	O95876	p.Asp612Glu	rs370410017	missense variant	-	NC_000002.12:g.63259386A>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gly614Ser	rs1282386975	missense variant	-	NC_000002.12:g.63259382C>T	TOPMed
WDPCP	O95876	p.Glu615Lys	rs748983772	missense variant	-	NC_000002.12:g.63259379C>T	ExAC,gnomAD
WDPCP	O95876	p.Leu616Phe	COSM722104	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63259374C>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Leu616Met	rs779790542	missense variant	-	NC_000002.12:g.63259376A>T	ExAC,gnomAD
WDPCP	O95876	p.Ala617Val	rs780498393	missense variant	-	NC_000002.12:g.63259372G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ala617Thr	rs765912876	missense variant	-	NC_000002.12:g.63259373C>T	ExAC,gnomAD
WDPCP	O95876	p.Glu620Lys	COSM4822307	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63259364C>T	NCI-TCGA Cosmic
WDPCP	O95876	p.Glu620Asp	rs1188297055	missense variant	-	NC_000002.12:g.63259362T>G	gnomAD
WDPCP	O95876	p.Val621Met	rs757326675	missense variant	-	NC_000002.12:g.63259361C>T	ExAC,gnomAD
WDPCP	O95876	p.Arg623Ile	rs751528511	missense variant	-	NC_000002.12:g.63259354C>A	ExAC,gnomAD
WDPCP	O95876	p.Arg623Ser	rs377380543	missense variant	-	NC_000002.12:g.63259353T>G	ESP,ExAC,gnomAD
WDPCP	O95876	p.Ala626Ser	rs758234804	missense variant	-	NC_000002.12:g.63259346C>A	ExAC,gnomAD
WDPCP	O95876	p.Ser627Ile	rs576368237	missense variant	-	NC_000002.12:g.63259342C>A	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Ile629Thr	rs766639248	missense variant	-	NC_000002.12:g.63259336A>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ile629Val	rs1176534509	missense variant	-	NC_000002.12:g.63259337T>C	TOPMed
WDPCP	O95876	p.Asp630Asn	rs760742250	missense variant	-	NC_000002.12:g.63259334C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser633Leu	rs1245429510	missense variant	-	NC_000002.12:g.63259324G>A	TOPMed,gnomAD
WDPCP	O95876	p.Ile634Val	rs1319733963	missense variant	-	NC_000002.12:g.63259322T>C	gnomAD
WDPCP	O95876	p.Thr635Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63259318G>A	NCI-TCGA
WDPCP	O95876	p.Gly637Arg	rs1224322780	missense variant	-	NC_000002.12:g.63259313C>T	gnomAD
WDPCP	O95876	p.Val638Phe	rs767576008	missense variant	-	NC_000002.12:g.63259310C>A	ExAC,gnomAD
WDPCP	O95876	p.Leu640Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63174829A>G	NCI-TCGA
WDPCP	O95876	p.Leu640Phe	COSM4830774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63174830G>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Pro643Leu	rs1216093830	missense variant	-	NC_000002.12:g.63174820G>A	TOPMed,gnomAD
WDPCP	O95876	p.Asp645Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63174815C>T	NCI-TCGA
WDPCP	O95876	p.Asp648Tyr	rs1324158673	missense variant	-	NC_000002.12:g.63174806C>A	gnomAD
WDPCP	O95876	p.Met649Val	RCV000354381	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63174803T>C	ClinVar
WDPCP	O95876	p.Met649Val	rs759281211	missense variant	-	NC_000002.12:g.63174803T>C	ExAC,gnomAD
WDPCP	O95876	p.Asn651His	rs373413042	missense variant	-	NC_000002.12:g.63174797T>G	ESP,TOPMed
WDPCP	O95876	p.Ala653Gly	rs770665661	missense variant	-	NC_000002.12:g.63174790G>C	ExAC,gnomAD
WDPCP	O95876	p.Ala653Val	rs770665661	missense variant	-	NC_000002.12:g.63174790G>A	ExAC,gnomAD
WDPCP	O95876	p.Ile655Thr	rs1325954155	missense variant	-	NC_000002.12:g.63174784A>G	TOPMed
WDPCP	O95876	p.Leu657Pro	rs772783589	missense variant	-	NC_000002.12:g.63174778A>G	ExAC,gnomAD
WDPCP	O95876	p.Ser658Pro	rs772204815	missense variant	-	NC_000002.12:g.63174776A>G	ExAC,gnomAD
WDPCP	O95876	p.Leu659Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.63174772A>C	NCI-TCGA
WDPCP	O95876	p.Leu659Phe	rs748023736	missense variant	-	NC_000002.12:g.63174771T>A	ExAC,gnomAD
WDPCP	O95876	p.Pro661Ser	rs369075461	missense variant	-	NC_000002.12:g.63174767G>A	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro661Thr	rs369075461	missense variant	-	NC_000002.12:g.63174767G>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro661Leu	rs572858289	missense variant	-	NC_000002.12:g.63174766G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gly663Ala	COSM3372839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63174760C>G	NCI-TCGA Cosmic
WDPCP	O95876	p.Gly663Glu	rs1464624316	missense variant	-	NC_000002.12:g.63174760C>T	gnomAD
WDPCP	O95876	p.Glu664Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.63174758C>A	NCI-TCGA
WDPCP	O95876	p.Glu664Val	rs1374797094	missense variant	-	NC_000002.12:g.63174757T>A	TOPMed,gnomAD
WDPCP	O95876	p.Asp665His	rs1171436215	missense variant	-	NC_000002.12:g.63174755C>G	gnomAD
WDPCP	O95876	p.Ser666Pro	rs554538342	missense variant	-	NC_000002.12:g.63174752A>G	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Phe667Leu	rs781418589	missense variant	-	NC_000002.12:g.63174747A>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Pro668Ser	COSM259813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63174746G>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Pro668Leu	rs757409957	missense variant	-	NC_000002.12:g.63174745G>A	ExAC,gnomAD
WDPCP	O95876	p.Asn670Lys	rs1242470451	missense variant	-	NC_000002.12:g.63174738G>T	TOPMed,gnomAD
WDPCP	O95876	p.Pro672Arg	rs1198594705	missense variant	-	NC_000002.12:g.63174733G>C	gnomAD
WDPCP	O95876	p.Ser674Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63174728A>T	NCI-TCGA
WDPCP	O95876	p.Pro676Thr	rs1340896410	missense variant	-	NC_000002.12:g.63174722G>T	gnomAD
WDPCP	O95876	p.Thr677Ile	rs758998604	missense variant	-	NC_000002.12:g.63174718G>A	ExAC,gnomAD
WDPCP	O95876	p.His678Tyr	rs1339594727	missense variant	-	NC_000002.12:g.63174716G>A	gnomAD
WDPCP	O95876	p.Arg679Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63174712C>T	NCI-TCGA
WDPCP	O95876	p.His680Arg	rs1295952465	missense variant	-	NC_000002.12:g.63174709T>C	gnomAD
WDPCP	O95876	p.Ile681Thr	rs1383919839	missense variant	-	NC_000002.12:g.63174706A>G	gnomAD
WDPCP	O95876	p.Gln683Pro	rs759847898	missense variant	-	NC_000002.12:g.63174700T>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gln683Arg	rs759847898	missense variant	-	NC_000002.12:g.63174700T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gln683Lys	rs765674630	missense variant	-	NC_000002.12:g.63174701G>T	ExAC,gnomAD
WDPCP	O95876	p.Gln684Arg	rs1325947677	missense variant	-	NC_000002.12:g.63174697T>C	TOPMed,gnomAD
WDPCP	O95876	p.Arg685Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63174694C>T	NCI-TCGA
WDPCP	O95876	p.Leu687Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63174689G>C	NCI-TCGA
WDPCP	O95876	p.Leu687Pro	COSM1022195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63174688A>G	NCI-TCGA Cosmic
WDPCP	O95876	p.Leu687Met	rs1283720653	missense variant	-	NC_000002.12:g.63174689G>T	TOPMed
WDPCP	O95876	p.Asn688Ser	rs61734468	missense variant	-	NC_000002.12:g.63174685T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asn688Ser	RCV000709653	missense variant	Bardet-Biedl syndrome 1 (BBS1)	NC_000002.12:g.63174685T>C	ClinVar
WDPCP	O95876	p.Gly689Ser	rs1298798705	missense variant	-	NC_000002.12:g.63174683C>T	gnomAD
WDPCP	O95876	p.Ser690Pro	rs766136478	missense variant	-	NC_000002.12:g.63174680A>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asn692Ser	rs760401387	missense variant	-	NC_000002.12:g.63174673T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ile695Thr	rs766838916	missense variant	-	NC_000002.12:g.63153569A>G	ExAC,gnomAD
WDPCP	O95876	p.Asp697Val	rs376547832	missense variant	-	NC_000002.12:g.63153563T>A	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Arg699Ser	COSM6092172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63153556C>G	NCI-TCGA Cosmic
WDPCP	O95876	p.Leu702Val	rs767162327	missense variant	-	NC_000002.12:g.63153549G>C	ExAC,gnomAD
WDPCP	O95876	p.Glu703Gln	rs1211600492	missense variant	-	NC_000002.12:g.63153546C>G	TOPMed
WDPCP	O95876	p.Asp705Tyr	RCV000318207	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63153540C>A	ClinVar
WDPCP	O95876	p.Asp705Tyr	rs200378703	missense variant	-	NC_000002.12:g.63153540C>A	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Asp705His	rs200378703	missense variant	-	NC_000002.12:g.63153540C>G	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Cys707Tyr	rs866413691	missense variant	-	NC_000002.12:g.63153533C>T	TOPMed
WDPCP	O95876	p.Cys707Ser	rs866413691	missense variant	-	NC_000002.12:g.63153533C>G	TOPMed
WDPCP	O95876	p.Ser708Phe	VAR_064772	Missense	-	-	UniProt
WDPCP	O95876	p.Gly709Arg	rs1228276176	missense variant	-	NC_000002.12:g.63153528C>T	gnomAD
WDPCP	O95876	p.Met712Leu	rs762871297	missense variant	-	NC_000002.12:g.63153519T>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Met712Thr	rs775318255	missense variant	-	NC_000002.12:g.63153518A>G	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Met712Val	rs762871297	missense variant	-	NC_000002.12:g.63153519T>C	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Thr715Ser	rs747270731	missense variant	-	NC_000002.12:g.63153510T>A	ExAC,gnomAD
WDPCP	O95876	p.Cys716Tyr	rs772286167	missense variant	-	NC_000002.12:g.63153506C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Cys716Arg	rs553530881	missense variant	-	NC_000002.12:g.63153507A>G	1000Genomes,ExAC,gnomAD
WDPCP	O95876	p.Asn717His	rs748189167	missense variant	-	NC_000002.12:g.63153504T>G	ExAC,gnomAD
WDPCP	O95876	p.Asp720Asn	rs1205538920	missense variant	-	NC_000002.12:g.63153495C>T	gnomAD
WDPCP	O95876	p.Gly721Arg	rs563554007	missense variant	-	NC_000002.12:g.63152943C>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gly721Glu	rs780732970	missense variant	-	NC_000002.12:g.63152942C>T	ExAC,gnomAD
WDPCP	O95876	p.Arg724Lys	rs1276531591	missense variant	-	NC_000002.12:g.63152933C>T	TOPMed,gnomAD
WDPCP	O95876	p.Arg724Thr	rs1276531591	missense variant	-	NC_000002.12:g.63152933C>G	TOPMed,gnomAD
WDPCP	O95876	p.Glu725Lys	rs1370629959	missense variant	-	NC_000002.12:g.63152931C>T	gnomAD
WDPCP	O95876	p.Asp726Glu	rs367690400	missense variant	-	NC_000002.12:g.63152926G>T	ESP,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gly727Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63152925C>A	NCI-TCGA
WDPCP	O95876	p.Gly727Ser	RCV000312220	missense variant	Bardet-Biedl syndrome (BBS)	NC_000002.12:g.63152925C>T	ClinVar
WDPCP	O95876	p.Gly727Val	COSM1022194	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63152924C>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Gly727Asp	COSM3582544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63152924C>T	NCI-TCGA Cosmic
WDPCP	O95876	p.Gly727Ser	rs369786224	missense variant	-	NC_000002.12:g.63152925C>T	1000Genomes,ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Gln730Ter	rs1433104332	stop gained	-	NC_000002.12:g.63152916G>A	TOPMed
WDPCP	O95876	p.Glu731Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63122056C>T	NCI-TCGA
WDPCP	O95876	p.Ile732Val	rs1313129799	missense variant	-	NC_000002.12:g.63122053T>C	gnomAD
WDPCP	O95876	p.Arg733Ile	COSM6158711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.63122049C>A	NCI-TCGA Cosmic
WDPCP	O95876	p.Arg733Lys	rs749394904	missense variant	-	NC_000002.12:g.63122049C>T	ExAC,gnomAD
WDPCP	O95876	p.Asp734Glu	rs1376880485	missense variant	-	NC_000002.12:g.63122045A>T	gnomAD
WDPCP	O95876	p.Asp734Val	rs1235741235	missense variant	-	NC_000002.12:g.63122046T>A	TOPMed
WDPCP	O95876	p.Gly735Ala	rs1396195860	missense variant	-	NC_000002.12:g.63122043C>G	gnomAD
WDPCP	O95876	p.Gly736Arg	rs775648946	missense variant	-	NC_000002.12:g.63122041C>G	ExAC,gnomAD
WDPCP	O95876	p.Gly736Asp	rs1409916303	missense variant	-	NC_000002.12:g.63122040C>T	gnomAD
WDPCP	O95876	p.Ser737Phe	rs746369214	missense variant	-	NC_000002.12:g.63122037G>A	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Ser737Tyr	rs746369214	missense variant	-	NC_000002.12:g.63122037G>T	ExAC,TOPMed,gnomAD
WDPCP	O95876	p.Lys739Arg	rs374727283	missense variant	-	NC_000002.12:g.63122031T>C	ESP,ExAC,gnomAD
WDPCP	O95876	p.His742Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63122023G>T	NCI-TCGA
WDPCP	O95876	p.Phe743Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63122020A>C	NCI-TCGA
WDPCP	O95876	p.Gly744Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63122017C>T	NCI-TCGA
WDPCP	O95876	p.Leu745Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.63122014G>T	NCI-TCGA
HAND1	O96004	p.Asn2Asp	rs1354473345	missense variant	-	NC_000005.10:g.154478005T>C	TOPMed,gnomAD
HAND1	O96004	p.Leu3Val	rs1299508908	missense variant	-	NC_000005.10:g.154478002G>C	TOPMed
HAND1	O96004	p.Val4Met	rs767528053	missense variant	-	NC_000005.10:g.154477999C>T	ExAC,gnomAD
HAND1	O96004	p.Gly5Asp	rs1460357937	missense variant	-	NC_000005.10:g.154477995C>T	gnomAD
HAND1	O96004	p.Gly5Arg	rs1397025136	missense variant	-	NC_000005.10:g.154477996C>G	TOPMed
HAND1	O96004	p.Ser6Arg	rs762997931	missense variant	-	NC_000005.10:g.154477991G>C	ExAC,gnomAD
HAND1	O96004	p.Ala8Thr	rs371033200	missense variant	-	NC_000005.10:g.154477987C>T	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ala8Ser	rs371033200	missense variant	-	NC_000005.10:g.154477987C>A	NCI-TCGA
HAND1	O96004	p.Ala8Ser	rs371033200	missense variant	-	NC_000005.10:g.154477987C>A	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.His9Tyr	rs1478174885	missense variant	-	NC_000005.10:g.154477984G>A	gnomAD
HAND1	O96004	p.His12Tyr	rs570134327	missense variant	-	NC_000005.10:g.154477975G>A	1000Genomes,gnomAD
HAND1	O96004	p.His13Tyr	rs769999347	missense variant	-	NC_000005.10:g.154477972G>A	ExAC,TOPMed,gnomAD
HAND1	O96004	p.His13Leu	rs1054562820	missense variant	-	NC_000005.10:g.154477971T>A	TOPMed,gnomAD
HAND1	O96004	p.His14Arg	rs1316132356	missense variant	-	NC_000005.10:g.154477968T>C	TOPMed
HAND1	O96004	p.Pro16Thr	rs200556971	missense variant	-	NC_000005.10:g.154477963G>T	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.His17Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477960G>C	NCI-TCGA
HAND1	O96004	p.His17Tyr	rs768925214	missense variant	-	NC_000005.10:g.154477960G>A	ExAC,gnomAD
HAND1	O96004	p.Pro18Thr	rs1333509227	missense variant	-	NC_000005.10:g.154477957G>T	gnomAD
HAND1	O96004	p.Ala19Gly	rs747513609	missense variant	-	NC_000005.10:g.154477953G>C	ExAC,gnomAD
HAND1	O96004	p.His20Gln	rs1355879284	missense variant	-	NC_000005.10:g.154477949G>T	gnomAD
HAND1	O96004	p.Pro21Leu	rs780396101	missense variant	-	NC_000005.10:g.154477947G>A	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Pro21Arg	rs780396101	missense variant	-	NC_000005.10:g.154477947G>C	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Met22Val	rs1270137702	missense variant	-	NC_000005.10:g.154477945T>C	TOPMed
HAND1	O96004	p.Leu23Val	rs1389429025	missense variant	-	NC_000005.10:g.154477942G>C	gnomAD
HAND1	O96004	p.His24Arg	rs772757234	missense variant	-	NC_000005.10:g.154477938T>C	ExAC,TOPMed,gnomAD
HAND1	O96004	p.His24Tyr	rs1398607391	missense variant	-	NC_000005.10:g.154477939G>A	gnomAD
HAND1	O96004	p.Glu25Lys	rs745362462	missense variant	-	NC_000005.10:g.154477936C>T	ExAC,gnomAD
HAND1	O96004	p.Pro26Leu	rs1261908051	missense variant	-	NC_000005.10:g.154477932G>A	TOPMed
HAND1	O96004	p.Pro26Ser	rs528298246	missense variant	-	NC_000005.10:g.154477933G>A	1000Genomes,ExAC,gnomAD
HAND1	O96004	p.Phe29Leu	rs756908501	missense variant	-	NC_000005.10:g.154477922G>T	ExAC,gnomAD
HAND1	O96004	p.Gly30Ser	rs753450334	missense variant	-	NC_000005.10:g.154477921C>T	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Gly30Arg	rs753450334	missense variant	-	NC_000005.10:g.154477921C>G	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Gly30Ser	rs753450334	missense variant	-	NC_000005.10:g.154477921C>T	NCI-TCGA,NCI-TCGA Cosmic
HAND1	O96004	p.Pro31Gln	rs777581629	missense variant	-	NC_000005.10:g.154477917G>T	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Pro31Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477918G>T	NCI-TCGA
HAND1	O96004	p.Ser33Trp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477911G>C	NCI-TCGA
HAND1	O96004	p.Ser33Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477911G>A	NCI-TCGA
HAND1	O96004	p.Arg34His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477908C>T	NCI-TCGA
HAND1	O96004	p.Arg34Leu	rs1253357213	missense variant	-	NC_000005.10:g.154477908C>A	gnomAD
HAND1	O96004	p.His36Arg	rs1199817968	missense variant	-	NC_000005.10:g.154477902T>C	gnomAD
HAND1	O96004	p.Gln37Arg	rs533319519	missense variant	-	NC_000005.10:g.154477899T>C	1000Genomes,ExAC,gnomAD
HAND1	O96004	p.Gln37His	rs759535790	missense variant	-	NC_000005.10:g.154477898C>G	ExAC,TOPMed
HAND1	O96004	p.Tyr41Cys	rs564241048	missense variant	-	NC_000005.10:g.154477887T>C	1000Genomes,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Tyr41Cys	rs564241048	missense variant	-	NC_000005.10:g.154477887T>C	NCI-TCGA,NCI-TCGA Cosmic
HAND1	O96004	p.Tyr41Ser	rs564241048	missense variant	-	NC_000005.10:g.154477887T>G	1000Genomes,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Phe42Leu	rs776751181	missense variant	-	NC_000005.10:g.154477883G>C	ExAC,gnomAD
HAND1	O96004	p.Phe42Leu	rs762046238	missense variant	-	NC_000005.10:g.154477885A>G	ExAC,gnomAD
HAND1	O96004	p.Gln43Arg	rs768965463	missense variant	-	NC_000005.10:g.154477881T>C	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ser44Thr	rs1297503043	missense variant	-	NC_000005.10:g.154477878C>G	TOPMed
HAND1	O96004	p.Ser44Arg	rs145232171	missense variant	-	NC_000005.10:g.154477877G>C	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Trp45Ser	rs141689288	missense variant	-	NC_000005.10:g.154477875C>G	ESP,TOPMed,gnomAD
HAND1	O96004	p.Trp45Gly	rs1296594232	missense variant	-	NC_000005.10:g.154477876A>C	TOPMed
HAND1	O96004	p.Trp45Cys	rs772706064	missense variant	-	NC_000005.10:g.154477874C>A	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Leu46Met	rs746385291	missense variant	-	NC_000005.10:g.154477873G>T	ExAC,gnomAD
HAND1	O96004	p.Ser48Gly	rs778513187	missense variant	-	NC_000005.10:g.154477867T>C	ExAC,gnomAD
HAND1	O96004	p.Ser48Arg	rs770592263	missense variant	-	NC_000005.10:g.154477865G>T	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ser48Arg	rs770592263	missense variant	-	NC_000005.10:g.154477865G>C	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Pro49Ser	rs1463053457	missense variant	-	NC_000005.10:g.154477864G>A	gnomAD
HAND1	O96004	p.Pro49Arg	rs748866943	missense variant	-	NC_000005.10:g.154477863G>C	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ala50Thr	rs1468987419	missense variant	-	NC_000005.10:g.154477861C>T	gnomAD
HAND1	O96004	p.Ala50Pro	rs1468987419	missense variant	-	NC_000005.10:g.154477861C>G	gnomAD
HAND1	O96004	p.Asp51Val	rs1365842411	missense variant	-	NC_000005.10:g.154477857T>A	TOPMed,gnomAD
HAND1	O96004	p.Ala52Thr	rs777266765	missense variant	-	NC_000005.10:g.154477855C>T	ExAC,gnomAD
HAND1	O96004	p.Ala53Val	rs1251644234	missense variant	-	NC_000005.10:g.154477851G>A	TOPMed,gnomAD
HAND1	O96004	p.Ala53Thr	rs1454187248	missense variant	-	NC_000005.10:g.154477852C>T	gnomAD
HAND1	O96004	p.Pro54Leu	rs780969396	missense variant	-	NC_000005.10:g.154477848G>A	ExAC,gnomAD
HAND1	O96004	p.Pro54Arg	rs780969396	missense variant	-	NC_000005.10:g.154477848G>C	ExAC,gnomAD
HAND1	O96004	p.Phe56Leu	rs1202928556	missense variant	-	NC_000005.10:g.154477841G>C	gnomAD
HAND1	O96004	p.Pro57Leu	rs1346301899	missense variant	-	NC_000005.10:g.154477839G>A	gnomAD
HAND1	O96004	p.Ala58Ser	rs1352583664	missense variant	-	NC_000005.10:g.154477837C>A	gnomAD
HAND1	O96004	p.Ala58Glu	rs201496181	missense variant	-	NC_000005.10:g.154477836G>T	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ala58Gly	rs201496181	missense variant	-	NC_000005.10:g.154477836G>C	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Gly59Ser	rs754000582	missense variant	-	NC_000005.10:g.154477834C>T	ExAC
HAND1	O96004	p.Gly60Arg	rs202045612	missense variant	-	NC_000005.10:g.154477831C>G	1000Genomes,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Gly60Glu	rs761028320	missense variant	-	NC_000005.10:g.154477830C>T	ExAC,gnomAD
HAND1	O96004	p.Pro61Leu	rs760076464	missense variant	-	NC_000005.10:g.154477827G>A	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Pro61Gln	rs760076464	missense variant	-	NC_000005.10:g.154477827G>T	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Pro61Ser	rs768012504	missense variant	-	NC_000005.10:g.154477828G>A	ExAC,gnomAD
HAND1	O96004	p.Pro61Thr	rs768012504	missense variant	-	NC_000005.10:g.154477828G>T	ExAC,gnomAD
HAND1	O96004	p.Pro63Leu	rs769262740	missense variant	-	NC_000005.10:g.154477821G>A	ExAC,gnomAD
HAND1	O96004	p.Pro63Ser	rs772843786	missense variant	-	NC_000005.10:g.154477822G>A	ExAC,gnomAD
HAND1	O96004	p.Ala64Ser	rs1196044769	missense variant	-	NC_000005.10:g.154477819C>A	gnomAD
HAND1	O96004	p.Ala65Gly	rs1478071174	missense variant	-	NC_000005.10:g.154477815G>C	gnomAD
HAND1	O96004	p.Ala66Thr	rs1190602578	missense variant	-	NC_000005.10:g.154477813C>T	gnomAD
HAND1	O96004	p.Ala66Ser	rs1190602578	missense variant	-	NC_000005.10:g.154477813C>A	NCI-TCGA Cosmic
HAND1	O96004	p.Ala66Ser	rs1190602578	missense variant	-	NC_000005.10:g.154477813C>A	gnomAD
HAND1	O96004	p.Ala67Val	rs780916501	missense variant	-	NC_000005.10:g.154477809G>A	ExAC,gnomAD
HAND1	O96004	p.Ala68Pro	rs374965548	missense variant	-	NC_000005.10:g.154477807C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ala69Asp	rs1219669852	missense variant	-	NC_000005.10:g.154477803G>T	gnomAD
HAND1	O96004	p.Ala69Ser	rs1282472466	missense variant	-	NC_000005.10:g.154477804C>A	gnomAD
HAND1	O96004	p.Ala69Thr	rs1282472466	missense variant	-	NC_000005.10:g.154477804C>T	gnomAD
HAND1	O96004	p.Thr70Pro	rs576059307	missense variant	-	NC_000005.10:g.154477801T>G	1000Genomes
HAND1	O96004	p.Ala71Thr	rs758422053	missense variant	-	NC_000005.10:g.154477798C>T	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ala71Ser	rs758422053	missense variant	-	NC_000005.10:g.154477798C>A	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Tyr72Cys	rs764242373	missense variant	-	NC_000005.10:g.154477794T>C	ExAC,gnomAD
HAND1	O96004	p.Gly73Ser	rs756237060	missense variant	-	NC_000005.10:g.154477792C>T	ExAC,gnomAD
HAND1	O96004	p.Gly73Asp	rs1217088770	missense variant	-	NC_000005.10:g.154477791C>T	TOPMed
HAND1	O96004	p.Asp75Glu	rs752995620	missense variant	-	NC_000005.10:g.154477784G>T	ExAC,gnomAD
HAND1	O96004	p.Asp75Glu	rs752995620	missense variant	-	NC_000005.10:g.154477784G>C	ExAC,gnomAD
HAND1	O96004	p.Ala76Thr	rs767888040	missense variant	-	NC_000005.10:g.154477783C>T	ExAC,gnomAD
HAND1	O96004	p.Arg77Ser	rs1373952727	missense variant	-	NC_000005.10:g.154477778C>A	gnomAD
HAND1	O96004	p.Gly79Arg	rs1176090594	missense variant	-	NC_000005.10:g.154477774C>T	TOPMed,gnomAD
HAND1	O96004	p.Gly79Trp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477774C>A	NCI-TCGA
HAND1	O96004	p.Gly79Arg	rs1176090594	missense variant	-	NC_000005.10:g.154477774C>G	TOPMed,gnomAD
HAND1	O96004	p.Gln80Arg	rs201037401	missense variant	-	NC_000005.10:g.154477770T>C	1000Genomes,ExAC
HAND1	O96004	p.Gln80His	rs774910795	missense variant	-	NC_000005.10:g.154477769C>G	ExAC,gnomAD
HAND1	O96004	p.Ser81Thr	rs763518945	missense variant	-	NC_000005.10:g.154477767C>G	ExAC,gnomAD
HAND1	O96004	p.Ser81Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477766G>C	NCI-TCGA
HAND1	O96004	p.Ser81Asn	COSM1064728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477767C>T	NCI-TCGA Cosmic
HAND1	O96004	p.Ser81Cys	rs766789740	missense variant	-	NC_000005.10:g.154477768T>A	ExAC,gnomAD
HAND1	O96004	p.Pro82Leu	rs772538065	missense variant	-	NC_000005.10:g.154477764G>A	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Gly83Trp	rs201302313	missense variant	-	NC_000005.10:g.154477762C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Gly83Trp	RCV000473290	missense variant	Hypoplastic left heart syndrome 1 (HLHS1)	NC_000005.10:g.154477762C>A	ClinVar
HAND1	O96004	p.Arg84Trp	rs1167066563	missense variant	-	NC_000005.10:g.154477759G>A	gnomAD
HAND1	O96004	p.Glu86Val	rs1177737621	missense variant	-	NC_000005.10:g.154477752T>A	TOPMed
HAND1	O96004	p.Glu86Val	RCV000633472	missense variant	Hypoplastic left heart syndrome (HLHS)	NC_000005.10:g.154477752T>A	ClinVar
HAND1	O96004	p.Leu88His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477746A>T	NCI-TCGA
HAND1	O96004	p.Arg91Gly	rs369296058	missense variant	-	NC_000005.10:g.154477738G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Arg91Leu	rs1320086824	missense variant	-	NC_000005.10:g.154477737C>A	gnomAD
HAND1	O96004	p.Arg91Ser	rs369296058	missense variant	-	NC_000005.10:g.154477738G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Arg94Gln	rs1353975436	missense variant	-	NC_000005.10:g.154477728C>T	gnomAD
HAND1	O96004	p.Arg94Gln	rs1353975436	missense variant	-	NC_000005.10:g.154477728C>T	NCI-TCGA Cosmic
HAND1	O96004	p.Arg94Trp	rs777670897	missense variant	-	NC_000005.10:g.154477729G>A	ExAC,gnomAD
HAND1	O96004	p.Arg95Gln	rs752869371	missense variant	-	NC_000005.10:g.154477725C>T	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Arg95Trp	rs756183625	missense variant	-	NC_000005.10:g.154477726G>A	ExAC,gnomAD
HAND1	O96004	p.Lys96Glu	rs572764589	missense variant	-	NC_000005.10:g.154477723T>C	1000Genomes,ExAC,gnomAD
HAND1	O96004	p.Gly97Cys	RCV000232915	missense variant	Hypoplastic left heart syndrome 1 (HLHS1)	NC_000005.10:g.154477720C>A	ClinVar
HAND1	O96004	p.Gly97Cys	rs878854746	missense variant	-	NC_000005.10:g.154477720C>A	-
HAND1	O96004	p.Gly99Val	rs751904421	missense variant	-	NC_000005.10:g.154477713C>A	ExAC,gnomAD
HAND1	O96004	p.Gly99Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.154477714C>A	NCI-TCGA
HAND1	O96004	p.Gly99Ala	rs751904421	missense variant	-	NC_000005.10:g.154477713C>G	ExAC,gnomAD
HAND1	O96004	p.Lys102Asn	rs1419800202	missense variant	-	NC_000005.10:g.154477703C>G	gnomAD
HAND1	O96004	p.Lys102Thr	COSM1064727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477704T>G	NCI-TCGA Cosmic
HAND1	O96004	p.Lys102Glu	rs763319157	missense variant	-	NC_000005.10:g.154477705T>C	ExAC,gnomAD
HAND1	O96004	p.Glu103Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477701T>A	NCI-TCGA
HAND1	O96004	p.Glu103Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477702C>G	NCI-TCGA
HAND1	O96004	p.Glu103Gly	rs1182283102	missense variant	-	NC_000005.10:g.154477701T>C	TOPMed,gnomAD
HAND1	O96004	p.Arg106His	COSM3853020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477692C>T	NCI-TCGA Cosmic
HAND1	O96004	p.Thr107Pro	rs1206454242	missense variant	-	NC_000005.10:g.154477690T>G	TOPMed,gnomAD
HAND1	O96004	p.Thr107Ala	rs1206454242	missense variant	-	NC_000005.10:g.154477690T>C	TOPMed,gnomAD
HAND1	O96004	p.Ser109Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477683C>T	NCI-TCGA
HAND1	O96004	p.Ile110Leu	rs905545828	missense variant	-	NC_000005.10:g.154477681T>G	TOPMed
HAND1	O96004	p.Ser112Cys	rs761291470	missense variant	-	NC_000005.10:g.154477675T>A	ExAC,gnomAD
HAND1	O96004	p.Ser112Arg	rs776179261	missense variant	-	NC_000005.10:g.154477673G>T	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ala113Thr	COSM1064726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477672C>T	NCI-TCGA Cosmic
HAND1	O96004	p.Phe114LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.154477669_154477670insG	NCI-TCGA
HAND1	O96004	p.Phe114Leu	rs774267927	missense variant	-	NC_000005.10:g.154477667G>T	gnomAD
HAND1	O96004	p.Ala115Ser	COSM737127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477666C>A	NCI-TCGA Cosmic
HAND1	O96004	p.Leu117Phe	rs536000696	missense variant	-	NC_000005.10:g.154477658C>A	1000Genomes,ExAC,gnomAD
HAND1	O96004	p.Arg118Leu	rs1449580591	missense variant	-	NC_000005.10:g.154477656C>A	gnomAD
HAND1	O96004	p.Glu119Asp	rs775093878	missense variant	-	NC_000005.10:g.154477652C>G	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Glu119Ter	rs1400422414	stop gained	-	NC_000005.10:g.154477654C>A	TOPMed,gnomAD
HAND1	O96004	p.Glu119Lys	COSM1064725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477654C>T	NCI-TCGA Cosmic
HAND1	O96004	p.Glu119Gln	rs1400422414	missense variant	-	NC_000005.10:g.154477654C>G	TOPMed,gnomAD
HAND1	O96004	p.Pro122Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477645G>T	NCI-TCGA
HAND1	O96004	p.Pro122Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477645G>C	NCI-TCGA
HAND1	O96004	p.Pro122Arg	rs1048063616	missense variant	-	NC_000005.10:g.154477644G>C	TOPMed
HAND1	O96004	p.Pro122Ser	rs1481488405	missense variant	-	NC_000005.10:g.154477645G>A	TOPMed
HAND1	O96004	p.Asn123Lys	rs1165033501	missense variant	-	NC_000005.10:g.154477640G>T	TOPMed,gnomAD
HAND1	O96004	p.Val124Leu	rs745686103	missense variant	-	NC_000005.10:g.154477639C>A	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Val124Met	rs745686103	missense variant	-	NC_000005.10:g.154477639C>T	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Pro125Leu	rs1405443403	missense variant	-	NC_000005.10:g.154477635G>A	gnomAD
HAND1	O96004	p.Asp127Tyr	rs1440191810	missense variant	-	NC_000005.10:g.154477630C>A	gnomAD
HAND1	O96004	p.Ile133Leu	rs1467186459	missense variant	-	NC_000005.10:g.154477612T>G	gnomAD
HAND1	O96004	p.Ile133Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477610G>C	NCI-TCGA
HAND1	O96004	p.Lys134Ter	rs974646425	stop gained	-	NC_000005.10:g.154477609T>A	TOPMed,gnomAD
HAND1	O96004	p.Lys134Arg	rs1222504650	missense variant	-	NC_000005.10:g.154477608T>C	gnomAD
HAND1	O96004	p.Leu136AlaPheSerTerUnkUnk	rs765936211	frameshift	-	NC_000005.10:g.154477602_154477603AG>-	NCI-TCGA
HAND1	O96004	p.Arg137Leu	rs374536409	missense variant	-	NC_000005.10:g.154477599C>A	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Arg137His	rs374536409	missense variant	-	NC_000005.10:g.154477599C>T	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Arg137His	rs374536409	missense variant	-	NC_000005.10:g.154477599C>T	NCI-TCGA,NCI-TCGA Cosmic
HAND1	O96004	p.Arg137Ser	rs771047758	missense variant	-	NC_000005.10:g.154477600G>T	ExAC,gnomAD
HAND1	O96004	p.Thr140Ala	rs755192128	missense variant	-	NC_000005.10:g.154477591T>C	ExAC,gnomAD
HAND1	O96004	p.Thr140Asn	rs1378346540	missense variant	-	NC_000005.10:g.154477590G>T	gnomAD
HAND1	O96004	p.Ser141Asn	rs1303293556	missense variant	-	NC_000005.10:g.154477587C>T	gnomAD
HAND1	O96004	p.Tyr142Asp	COSM1435414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154477585A>C	NCI-TCGA Cosmic
HAND1	O96004	p.Ala144Ser	rs140560109	missense variant	-	NC_000005.10:g.154477579C>A	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ala144Thr	rs140560109	missense variant	-	NC_000005.10:g.154477579C>T	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Asp148Gly	rs750803617	missense variant	-	NC_000005.10:g.154477566T>C	ExAC,gnomAD
HAND1	O96004	p.Asp148Glu	rs1452539216	missense variant	-	NC_000005.10:g.154477565G>T	gnomAD
HAND1	O96004	p.Val149Leu	rs1270361699	missense variant	-	NC_000005.10:g.154477564C>A	TOPMed
HAND1	O96004	p.Lys152Glu	rs762375465	missense variant	-	NC_000005.10:g.154477555T>C	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ser156Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154477542G>A	NCI-TCGA
HAND1	O96004	p.Pro159Leu	rs1191667279	missense variant	-	NC_000005.10:g.154477533G>A	gnomAD
HAND1	O96004	p.Glu160Gly	rs987403652	missense variant	-	NC_000005.10:g.154477530T>C	TOPMed,gnomAD
HAND1	O96004	p.Ala161Val	rs1269484400	missense variant	-	NC_000005.10:g.154477527G>A	gnomAD
HAND1	O96004	p.Phe162Leu	rs1192017843	missense variant	-	NC_000005.10:g.154477525A>G	gnomAD
HAND1	O96004	p.Lys163Gln	rs1269763181	missense variant	-	NC_000005.10:g.154477522T>G	TOPMed
HAND1	O96004	p.Lys167Arg	rs202139442	missense variant	-	NC_000005.10:g.154477509T>C	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Lys167Gln	rs1240546642	missense variant	-	NC_000005.10:g.154477510T>G	gnomAD
HAND1	O96004	p.Lys167Met	rs202139442	missense variant	-	NC_000005.10:g.154477509T>A	ExAC,TOPMed,gnomAD
HAND1	O96004	p.Lys168Ter	rs1327129838	stop gained	-	NC_000005.10:g.154477507T>A	gnomAD
HAND1	O96004	p.Gly171Asp	rs201984942	missense variant	-	NC_000005.10:g.154477497C>T	1000Genomes,ExAC
HAND1	O96004	p.Gly172Cys	rs1166385384	missense variant	-	NC_000005.10:g.154477495C>A	TOPMed
HAND1	O96004	p.Arg173Ser	rs1313460396	missense variant	-	NC_000005.10:g.154477492G>T	TOPMed,gnomAD
HAND1	O96004	p.Arg173Cys	rs1313460396	missense variant	-	NC_000005.10:g.154477492G>A	NCI-TCGA Cosmic
HAND1	O96004	p.Arg173Leu	rs146912397	missense variant	-	NC_000005.10:g.154477491C>A	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Arg173His	rs146912397	missense variant	-	NC_000005.10:g.154477491C>T	ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Arg173Cys	rs1313460396	missense variant	-	NC_000005.10:g.154477492G>A	TOPMed,gnomAD
HAND1	O96004	p.Glu174Gly	rs781370812	missense variant	-	NC_000005.10:g.154477488T>C	ExAC,gnomAD
HAND1	O96004	p.Ser175Asn	rs1164568199	missense variant	-	NC_000005.10:g.154477485C>T	NCI-TCGA Cosmic
HAND1	O96004	p.Ser175Asn	rs1164568199	missense variant	-	NC_000005.10:g.154477485C>T	TOPMed
HAND1	O96004	p.Arg177Trp	rs768888751	missense variant	-	NC_000005.10:g.154477480G>A	ExAC,gnomAD
HAND1	O96004	p.Arg177Leu	rs747099689	missense variant	-	NC_000005.10:g.154477479C>A	ExAC
HAND1	O96004	p.Arg177Gln	rs747099689	missense variant	-	NC_000005.10:g.154477479C>T	NCI-TCGA
HAND1	O96004	p.Arg177Gln	rs747099689	missense variant	-	NC_000005.10:g.154477479C>T	ExAC
HAND1	O96004	p.Gln182Lys	rs1333755459	missense variant	-	NC_000005.10:g.154475910G>T	gnomAD
HAND1	O96004	p.Gln182Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154475909T>C	NCI-TCGA
HAND1	O96004	p.His184Leu	rs1246794989	missense variant	-	NC_000005.10:g.154475903T>A	gnomAD
HAND1	O96004	p.Gly186Asp	rs1340776953	missense variant	-	NC_000005.10:g.154475897C>T	gnomAD
HAND1	O96004	p.Pro188Ala	rs929460819	missense variant	-	NC_000005.10:g.154475892G>C	TOPMed
HAND1	O96004	p.Pro189Ser	rs1389554299	missense variant	-	NC_000005.10:g.154475889G>A	gnomAD
HAND1	O96004	p.Pro189Leu	rs147677474	missense variant	-	NC_000005.10:g.154475888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAND1	O96004	p.Ala190Ser	rs778198835	missense variant	-	NC_000005.10:g.154475886C>A	ExAC,gnomAD
HAND1	O96004	p.Ala190Val	rs756586663	missense variant	-	NC_000005.10:g.154475885G>A	ExAC,gnomAD
HAND1	O96004	p.Val194Ala	rs373277337	missense variant	-	NC_000005.10:g.154475873A>G	ESP,ExAC,TOPMed
HAND1	O96004	p.Glu195Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154475871C>T	NCI-TCGA
HAND1	O96004	p.Glu195Gln	rs762914657	missense variant	-	NC_000005.10:g.154475871C>G	gnomAD
HAND1	O96004	p.Lys196Arg	rs878854747	missense variant	-	NC_000005.10:g.154475867T>C	-
HAND1	O96004	p.Lys196Arg	RCV000227604	missense variant	Hypoplastic left heart syndrome 1 (HLHS1)	NC_000005.10:g.154475867T>C	ClinVar
HAND1	O96004	p.Lys199Gln	rs754637839	missense variant	-	NC_000005.10:g.154475859T>G	ExAC,gnomAD
HAND1	O96004	p.Gly200Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154475856C>T	NCI-TCGA
HAND1	O96004	p.Gly200Glu	rs751211164	missense variant	-	NC_000005.10:g.154475855C>T	ExAC,gnomAD
HAND1	O96004	p.Arg201Cys	COSM1435413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.154475853G>A	NCI-TCGA Cosmic
HAND1	O96004	p.Thr202Ser	rs766161267	missense variant	-	NC_000005.10:g.154475849G>C	ExAC,gnomAD
HAND1	O96004	p.Gly203Ala	rs762786810	missense variant	-	NC_000005.10:g.154475846C>G	ExAC,gnomAD
HAND1	O96004	p.Pro205Thr	rs1439266037	missense variant	-	NC_000005.10:g.154475841G>T	TOPMed,gnomAD
HAND1	O96004	p.Pro205Gln	rs765198552	missense variant	-	NC_000005.10:g.154475840G>T	ExAC,gnomAD
HAND1	O96004	p.Gln207Ter	COSM3612891	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.154475835G>A	NCI-TCGA Cosmic
HAND1	O96004	p.Val208Leu	rs772091154	missense variant	-	NC_000005.10:g.154475832C>G	ExAC,gnomAD
HAND1	O96004	p.Ala210Glu	rs746068193	missense variant	-	NC_000005.10:g.154475825G>T	ExAC,gnomAD
HAND1	O96004	p.Ala210Val	rs746068193	missense variant	-	NC_000005.10:g.154475825G>A	NCI-TCGA
HAND1	O96004	p.Ala210Val	rs746068193	missense variant	-	NC_000005.10:g.154475825G>A	ExAC,gnomAD
HAND1	O96004	p.Gln215Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.154475811G>T	NCI-TCGA
HAND1	O96004	p.Gln215Arg	rs985784176	missense variant	-	NC_000005.10:g.154475810T>C	TOPMed
HAND1	O96004	p.Gln215Ter	rs771160670	stop gained	-	NC_000005.10:g.154475811G>A	ExAC,gnomAD
CLPTM1	O96005	p.Ala2Val	rs1000005480	missense variant	-	NC_000019.10:g.44955400C>T	TOPMed,gnomAD
CLPTM1	O96005	p.Gln5Glu	rs1242961099	missense variant	-	NC_000019.10:g.44955408C>G	gnomAD
CLPTM1	O96005	p.Ala7Val	rs998710713	missense variant	-	NC_000019.10:g.44955415C>T	TOPMed,gnomAD
CLPTM1	O96005	p.Asp8Tyr	rs1233778279	missense variant	-	NC_000019.10:g.44955417G>T	gnomAD
CLPTM1	O96005	p.Asp8Glu	rs1390106775	missense variant	-	NC_000019.10:g.44955419C>G	TOPMed
CLPTM1	O96005	p.Gly9Ala	rs981082621	missense variant	-	NC_000019.10:g.44955421G>C	TOPMed,gnomAD
CLPTM1	O96005	p.Ala10Thr	rs760499739	missense variant	-	NC_000019.10:g.44955423G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala10Val	rs1272185967	missense variant	-	NC_000019.10:g.44955424C>T	TOPMed,gnomAD
CLPTM1	O96005	p.Ala10Pro	rs760499739	missense variant	-	NC_000019.10:g.44955423G>C	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala10Ser	rs760499739	missense variant	-	NC_000019.10:g.44955423G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg11Pro	rs768262557	missense variant	-	NC_000019.10:g.44955427G>C	ExAC
CLPTM1	O96005	p.Arg11Cys	rs1206048137	missense variant	-	NC_000019.10:g.44955426C>T	TOPMed,gnomAD
CLPTM1	O96005	p.Ser12Asn	rs1210527843	missense variant	-	NC_000019.10:g.44955430G>A	TOPMed
CLPTM1	O96005	p.Ala13Thr	rs1244424165	missense variant	-	NC_000019.10:g.44955432G>A	gnomAD
CLPTM1	O96005	p.Val14Met	rs962978211	missense variant	-	NC_000019.10:g.44955435G>A	TOPMed,gnomAD
CLPTM1	O96005	p.Gly18Arg	rs1193806194	missense variant	-	NC_000019.10:g.44955447G>A	gnomAD
CLPTM1	O96005	p.Gly18Ala	rs980948842	missense variant	-	NC_000019.10:g.44955448G>C	TOPMed,gnomAD
CLPTM1	O96005	p.Gly18Glu	rs980948842	missense variant	-	NC_000019.10:g.44955448G>A	TOPMed,gnomAD
CLPTM1	O96005	p.Gly20Asp	rs1167320603	missense variant	-	NC_000019.10:g.44955454G>A	TOPMed,gnomAD
CLPTM1	O96005	p.Ser21Thr	rs926816880	missense variant	-	NC_000019.10:g.44955457G>C	TOPMed,gnomAD
CLPTM1	O96005	p.Ser22Tyr	rs1323064547	missense variant	-	NC_000019.10:g.44955460C>A	TOPMed
CLPTM1	O96005	p.Gln24Arg	rs764989831	missense variant	-	NC_000019.10:g.44955466A>G	ExAC,gnomAD
CLPTM1	O96005	p.Gln24Ter	rs1382086891	stop gained	-	NC_000019.10:g.44955465C>T	TOPMed
CLPTM1	O96005	p.Val25Ala	rs908610675	missense variant	-	NC_000019.10:g.44961964T>C	gnomAD
CLPTM1	O96005	p.Ser27Thr	rs141106569	missense variant	-	NC_000019.10:g.44961970G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gly29Asp	rs769383719	missense variant	-	NC_000019.10:g.44961976G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ser30Gly	rs1294556289	missense variant	-	NC_000019.10:g.44961978A>G	gnomAD
CLPTM1	O96005	p.Gly32Arg	rs144895422	missense variant	-	NC_000019.10:g.44961984G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Asp34Glu	rs1218628804	missense variant	-	NC_000019.10:g.44961992C>A	TOPMed,gnomAD
CLPTM1	O96005	p.Asp34Asn	rs543191082	missense variant	-	NC_000019.10:g.44961990G>A	1000Genomes,ExAC,gnomAD
CLPTM1	O96005	p.Pro35Leu	rs368725337	missense variant	-	NC_000019.10:g.44961994C>T	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro36Ala	rs1368217352	missense variant	-	NC_000019.10:g.44961996C>G	TOPMed
CLPTM1	O96005	p.Ala37Val	rs753152761	missense variant	-	NC_000019.10:g.44962000C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala37Thr	rs952278058	missense variant	-	NC_000019.10:g.44961999G>A	TOPMed,gnomAD
CLPTM1	O96005	p.Glu38Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44962004G>C	NCI-TCGA
CLPTM1	O96005	p.Glu38Lys	rs1321513147	missense variant	-	NC_000019.10:g.44962002G>A	TOPMed
CLPTM1	O96005	p.Thr39Asn	rs146651919	missense variant	-	NC_000019.10:g.44962006C>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Thr39Ile	rs146651919	missense variant	-	NC_000019.10:g.44962006C>T	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gln40Arg	rs754110120	missense variant	-	NC_000019.10:g.44962009A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro45Leu	rs746787209	missense variant	-	NC_000019.10:g.44962024C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro45Ala	rs779968386	missense variant	-	NC_000019.10:g.44962023C>G	ExAC,gnomAD
CLPTM1	O96005	p.Ala46Gly	rs1192393718	missense variant	-	NC_000019.10:g.44962027C>G	TOPMed
CLPTM1	O96005	p.Pro48Leu	rs781017565	missense variant	-	NC_000019.10:g.44962033C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro50Leu	rs1209031890	missense variant	-	NC_000019.10:g.44962039C>T	TOPMed
CLPTM1	O96005	p.Asn51Ser	rs545425237	missense variant	-	NC_000019.10:g.44962042A>G	1000Genomes,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Asn51Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44962042A>C	NCI-TCGA
CLPTM1	O96005	p.Ala52Val	rs1237961025	missense variant	-	NC_000019.10:g.44962045C>T	TOPMed,gnomAD
CLPTM1	O96005	p.Val55Ile	rs772832625	missense variant	-	NC_000019.10:g.44962053G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Lys57Arg	rs902926484	missense variant	-	NC_000019.10:g.44962060A>G	gnomAD
CLPTM1	O96005	p.Gly58Asp	COSM474907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44962063G>A	NCI-TCGA Cosmic
CLPTM1	O96005	p.Phe64Leu	rs755981416	missense variant	-	NC_000019.10:g.44973093C>A	ExAC,gnomAD
CLPTM1	O96005	p.Phe64Leu	rs755981416	missense variant	-	NC_000019.10:g.44973093C>G	ExAC,gnomAD
CLPTM1	O96005	p.Ile69Val	rs777780310	missense variant	-	NC_000019.10:g.44973106A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg74His	rs745415184	missense variant	-	NC_000019.10:g.44973122G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg74Cys	rs778256603	missense variant	-	NC_000019.10:g.44973121C>T	ExAC,gnomAD
CLPTM1	O96005	p.Arg75Pro	rs150314527	missense variant	-	NC_000019.10:g.44973125G>C	ESP,TOPMed,gnomAD
CLPTM1	O96005	p.Arg75Gly	rs772409757	missense variant	-	NC_000019.10:g.44973124C>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg75Gln	rs150314527	missense variant	-	NC_000019.10:g.44973125G>A	ESP,TOPMed,gnomAD
CLPTM1	O96005	p.Arg75Ter	rs772409757	stop gained	-	NC_000019.10:g.44973124C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gly76Val	rs1168016183	missense variant	-	NC_000019.10:g.44973128G>T	gnomAD
CLPTM1	O96005	p.Pro77Leu	rs374102168	missense variant	-	NC_000019.10:g.44973131C>T	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gln80Arg	rs1370783049	missense variant	-	NC_000019.10:g.44973140A>G	gnomAD
CLPTM1	O96005	p.Gln80Glu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44973139C>G	NCI-TCGA
CLPTM1	O96005	p.Gln82His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44973147G>T	NCI-TCGA
CLPTM1	O96005	p.Gln82Glu	rs769001973	missense variant	-	NC_000019.10:g.44973145C>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala83Val	rs562193044	missense variant	-	NC_000019.10:g.44973149C>T	1000Genomes,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro85Leu	rs765533100	missense variant	-	NC_000019.10:g.44973155C>T	ExAC,gnomAD
CLPTM1	O96005	p.Pro85Ser	rs1251169141	missense variant	-	NC_000019.10:g.44973154C>T	TOPMed
CLPTM1	O96005	p.Gly86Arg	rs1341560422	missense variant	-	NC_000019.10:g.44973157G>A	gnomAD
CLPTM1	O96005	p.Gly87Ter	COSM3535818	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44973160G>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Ala88Thr	rs1479614516	missense variant	-	NC_000019.10:g.44973163G>A	TOPMed
CLPTM1	O96005	p.Pro89Leu	rs1223291329	missense variant	-	NC_000019.10:g.44973167C>T	TOPMed
CLPTM1	O96005	p.Arg90His	rs752680864	missense variant	-	NC_000019.10:g.44973170G>A	ExAC,gnomAD
CLPTM1	O96005	p.Arg90Cys	rs1468782536	missense variant	-	NC_000019.10:g.44973169C>T	gnomAD
CLPTM1	O96005	p.Val91Ile	rs571801848	missense variant	-	NC_000019.10:g.44973172G>A	1000Genomes,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala92Thr	rs371543810	missense variant	-	NC_000019.10:g.44973175G>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala92Pro	rs371543810	missense variant	-	NC_000019.10:g.44973175G>C	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg94His	rs192663448	missense variant	-	NC_000019.10:g.44973182G>A	1000Genomes,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Phe97Leu	COSM3535820	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44973192C>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Lys99Arg	rs1462645105	missense variant	-	NC_000019.10:g.44973197A>G	gnomAD
CLPTM1	O96005	p.Leu102Ter	rs779604950	stop gained	-	NC_000019.10:g.44973206T>A	ExAC,gnomAD
CLPTM1	O96005	p.Asn104His	rs138504126	missense variant	-	NC_000019.10:g.44974439A>C	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.His106Tyr	rs1484656105	missense variant	-	NC_000019.10:g.44974445C>T	gnomAD
CLPTM1	O96005	p.His106Leu	COSM6085367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974446A>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Glu113Lys	rs749506329	missense variant	-	NC_000019.10:g.44974466G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.His114Gln	rs774534426	missense variant	-	NC_000019.10:g.44974471C>G	ExAC,gnomAD
CLPTM1	O96005	p.Phe118Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44974483C>A	NCI-TCGA
CLPTM1	O96005	p.Asn119Ser	rs750258939	missense variant	-	NC_000019.10:g.44974485A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Asn119Thr	rs750258939	missense variant	-	NC_000019.10:g.44974485A>C	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala120Ser	rs761721741	missense variant	-	NC_000019.10:g.44974487G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala120Thr	rs761721741	missense variant	-	NC_000019.10:g.44974487G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Thr121Ala	rs750231038	missense variant	-	NC_000019.10:g.44974490A>G	ExAC,gnomAD
CLPTM1	O96005	p.Thr121Met	rs1376192635	missense variant	-	NC_000019.10:g.44974491C>T	gnomAD
CLPTM1	O96005	p.Ser122Leu	rs755667948	missense variant	-	NC_000019.10:g.44974494C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala123Ser	rs141421531	missense variant	-	NC_000019.10:g.44974496G>T	ESP,TOPMed
CLPTM1	O96005	p.Ala123Val	rs1392118815	missense variant	-	NC_000019.10:g.44974497C>T	gnomAD
CLPTM1	O96005	p.Asp130Asn	rs779689343	missense variant	-	NC_000019.10:g.44974517G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val132Leu	rs200975575	missense variant	-	NC_000019.10:g.44974523G>C	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Asp135Asn	rs745875304	missense variant	-	NC_000019.10:g.44974532G>A	ExAC,gnomAD
CLPTM1	O96005	p.Trp136Cys	COSM74179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974537G>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Gly139Cys	COSM6151507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974544G>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Glu140Asp	rs773018110	missense variant	-	NC_000019.10:g.44974549G>C	ExAC,gnomAD
CLPTM1	O96005	p.Glu140Lys	rs765124173	missense variant	-	NC_000019.10:g.44974547G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Glu140Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44974549G>T	NCI-TCGA
CLPTM1	O96005	p.Asp143Gly	COSM3797230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974557A>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Gly144Val	rs1353938569	missense variant	-	NC_000019.10:g.44974560G>T	gnomAD
CLPTM1	O96005	p.Gly144Ser	COSM3389128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974559G>A	NCI-TCGA Cosmic
CLPTM1	O96005	p.Cys145Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44974563G>T	NCI-TCGA
CLPTM1	O96005	p.Tyr146Cys	rs1333606656	missense variant	-	NC_000019.10:g.44974566A>G	gnomAD
CLPTM1	O96005	p.Glu147Lys	rs1449602757	missense variant	-	NC_000019.10:g.44974568G>A	TOPMed
CLPTM1	O96005	p.Glu147Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.44974568G>T	NCI-TCGA
CLPTM1	O96005	p.Glu147Gly	COSM4079239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44974569A>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Leu152Phe	rs1209353903	missense variant	-	NC_000019.10:g.44974583C>T	TOPMed
CLPTM1	O96005	p.Asp153Glu	rs1271685356	missense variant	-	NC_000019.10:g.44974588T>G	gnomAD
CLPTM1	O96005	p.Asp153Asn	rs756606533	missense variant	-	NC_000019.10:g.44974586G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ile154Val	rs1307561603	missense variant	-	NC_000019.10:g.44974589A>G	TOPMed,gnomAD
CLPTM1	O96005	p.Ile154Met	rs778166767	missense variant	-	NC_000019.10:g.44974591C>G	ExAC,gnomAD
CLPTM1	O96005	p.Gln156Arg	rs754197939	missense variant	-	NC_000019.10:g.44974596A>G	ExAC,gnomAD
CLPTM1	O96005	p.Val158Ile	rs1310542802	missense variant	-	NC_000019.10:g.44977346G>A	gnomAD
CLPTM1	O96005	p.Gln159Arg	rs779396307	missense variant	-	NC_000019.10:g.44977350A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gln160His	rs750857131	missense variant	-	NC_000019.10:g.44977354G>C	ExAC,gnomAD
CLPTM1	O96005	p.Gly162Ser	rs1222459462	missense variant	-	NC_000019.10:g.44977358G>A	gnomAD
CLPTM1	O96005	p.Ser163Pro	rs1283947493	missense variant	-	NC_000019.10:g.44977361T>C	gnomAD
CLPTM1	O96005	p.Val168Ile	rs1485378236	missense variant	-	NC_000019.10:g.44977376G>A	gnomAD
CLPTM1	O96005	p.Tyr169His	rs781310487	missense variant	-	NC_000019.10:g.44977379T>C	ExAC,gnomAD
CLPTM1	O96005	p.Lys172Arg	COSM1317058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44977389A>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Phe175Ser	rs1157793562	missense variant	-	NC_000019.10:g.44977398T>C	gnomAD
CLPTM1	O96005	p.Asp178Gly	rs1421508090	missense variant	-	NC_000019.10:g.44977407A>G	gnomAD
CLPTM1	O96005	p.Pro179Ser	rs1171663505	missense variant	-	NC_000019.10:g.44977409C>T	gnomAD
CLPTM1	O96005	p.Arg180Gln	rs770897370	missense variant	-	NC_000019.10:g.44977413G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg180Trp	rs1374367230	missense variant	-	NC_000019.10:g.44977412C>T	gnomAD
CLPTM1	O96005	p.Ala183Ser	rs1395548068	missense variant	-	NC_000019.10:g.44977421G>T	TOPMed
CLPTM1	O96005	p.Leu184Val	rs774095864	missense variant	-	NC_000019.10:g.44977424C>G	ExAC,gnomAD
CLPTM1	O96005	p.Arg186Leu	rs771699515	missense variant	-	NC_000019.10:g.44977431G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg186Cys	rs137904804	missense variant	-	NC_000019.10:g.44977430C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg186His	rs771699515	missense variant	-	NC_000019.10:g.44977431G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg187Gln	rs1243025738	missense variant	-	NC_000019.10:g.44977434G>A	gnomAD
CLPTM1	O96005	p.Arg187Trp	rs1246167374	missense variant	-	NC_000019.10:g.44977433C>T	TOPMed
CLPTM1	O96005	p.Ala189Thr	rs1278787270	missense variant	-	NC_000019.10:g.44977439G>A	gnomAD
CLPTM1	O96005	p.Thr190Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44977443C>T	NCI-TCGA
CLPTM1	O96005	p.Val191Ile	rs1347740393	missense variant	-	NC_000019.10:g.44977445G>A	gnomAD
CLPTM1	O96005	p.His192Arg	rs1201129095	missense variant	-	NC_000019.10:g.44977449A>G	gnomAD
CLPTM1	O96005	p.Met193Leu	rs79721511	missense variant	-	NC_000019.10:g.44977451A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Met193Val	rs79721511	missense variant	-	NC_000019.10:g.44977451A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg195Gln	rs776330038	missense variant	-	NC_000019.10:g.44977458G>A	ExAC,gnomAD
CLPTM1	O96005	p.Arg195Trp	rs763683339	missense variant	-	NC_000019.10:g.44977457C>T	ExAC,gnomAD
CLPTM1	O96005	p.Met196Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44985219G>A	NCI-TCGA
CLPTM1	O96005	p.Ile197Asn	rs1170999985	missense variant	-	NC_000019.10:g.44985221T>A	gnomAD
CLPTM1	O96005	p.Arg202Leu	rs773592797	missense variant	-	NC_000019.10:g.44985236G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg202Cys	rs767271081	missense variant	-	NC_000019.10:g.44985235C>T	gnomAD
CLPTM1	O96005	p.Arg202His	rs773592797	missense variant	-	NC_000019.10:g.44985236G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg204Gln	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44985242G>A	NCI-TCGA
CLPTM1	O96005	p.Phe205Tyr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44985245T>A	NCI-TCGA
CLPTM1	O96005	p.Thr216Ala	COSM998102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44985277A>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Ala218Thr	COSM4929474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44985283G>A	NCI-TCGA Cosmic
CLPTM1	O96005	p.Asp219Glu	rs375955885	missense variant	-	NC_000019.10:g.44985288C>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Asp219Gly	COSM1394517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44985287A>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Arg225Trp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44986455A>T	NCI-TCGA
CLPTM1	O96005	p.Glu227Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44986461G>A	NCI-TCGA
CLPTM1	O96005	p.Asp228Tyr	rs751251868	missense variant	-	NC_000019.10:g.44986464G>T	ExAC
CLPTM1	O96005	p.Asp228Gly	rs1186826260	missense variant	-	NC_000019.10:g.44986465A>G	gnomAD
CLPTM1	O96005	p.Tyr229His	rs999084779	missense variant	-	NC_000019.10:g.44986467T>C	TOPMed
CLPTM1	O96005	p.Tyr229Cys	rs1256457499	missense variant	-	NC_000019.10:g.44986468A>G	gnomAD
CLPTM1	O96005	p.Glu233Ter	COSM712378	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44986479G>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Ile244Val	rs754823093	missense variant	-	NC_000019.10:g.44986512A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Asn245Ser	COSM3535825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44986516A>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Asp248Asn	rs146761034	missense variant	-	NC_000019.10:g.44986524G>A	ESP,TOPMed
CLPTM1	O96005	p.Asp249Asn	rs1458627225	missense variant	-	NC_000019.10:g.44986527G>A	gnomAD
CLPTM1	O96005	p.Thr251Met	rs1304684170	missense variant	-	NC_000019.10:g.44986534C>T	gnomAD
CLPTM1	O96005	p.Pro252Leu	rs1452638022	missense variant	-	NC_000019.10:g.44986537C>T	TOPMed
CLPTM1	O96005	p.Pro252Ser	COSM1712493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44986536C>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Val254Leu	rs1298268625	missense variant	-	NC_000019.10:g.44986542G>C	TOPMed
CLPTM1	O96005	p.Pro260LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.44986557C>-	NCI-TCGA
CLPTM1	O96005	p.Asp263Asn	rs774928071	missense variant	-	NC_000019.10:g.44986569G>A	ExAC,gnomAD
CLPTM1	O96005	p.Gln264His	rs148911976	missense variant	-	NC_000019.10:g.44986574A>T	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val266Met	rs1391095934	missense variant	-	NC_000019.10:g.44987181G>A	TOPMed
CLPTM1	O96005	p.Ala270Val	rs1333121472	missense variant	-	NC_000019.10:g.44987194C>T	gnomAD
CLPTM1	O96005	p.Ala270Thr	rs899497370	missense variant	-	NC_000019.10:g.44987193G>A	TOPMed,gnomAD
CLPTM1	O96005	p.Val271Met	rs1435749475	missense variant	-	NC_000019.10:g.44987196G>A	TOPMed,gnomAD
CLPTM1	O96005	p.Gly273Ser	rs375159260	missense variant	-	NC_000019.10:g.44987202G>A	ESP,ExAC,gnomAD
CLPTM1	O96005	p.Asp274His	rs1179033404	missense variant	-	NC_000019.10:g.44987205G>C	TOPMed
CLPTM1	O96005	p.Ile279Val	rs150943861	missense variant	-	NC_000019.10:g.44987220A>G	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Phe281Leu	rs768702439	missense variant	-	NC_000019.10:g.44987226T>C	ExAC,gnomAD
CLPTM1	O96005	p.Asn282Asp	COSM4079249	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44987229A>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Tyr284Ter	rs1269101904	stop gained	-	NC_000019.10:g.44987236dup	TOPMed
CLPTM1	O96005	p.Asp290Tyr	rs776912395	missense variant	-	NC_000019.10:g.44987253G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Tyr292Ser	rs762003789	missense variant	-	NC_000019.10:g.44987260A>C	ExAC
CLPTM1	O96005	p.Glu296Lys	rs199925354	missense variant	-	NC_000019.10:g.44987271G>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Glu296Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44987273G>C	NCI-TCGA
CLPTM1	O96005	p.Glu296Ter	COSM712376	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44987271G>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Ala299Thr	rs773471647	missense variant	-	NC_000019.10:g.44987280G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro302Ser	rs1191610329	missense variant	-	NC_000019.10:g.44987289C>T	gnomAD
CLPTM1	O96005	p.Leu303Phe	rs1478311299	missense variant	-	NC_000019.10:g.44987292C>T	gnomAD
CLPTM1	O96005	p.Arg304His	rs372588500	missense variant	-	NC_000019.10:g.44987296G>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg304Cys	rs755945704	missense variant	-	NC_000019.10:g.44987295C>T	ExAC,gnomAD
CLPTM1	O96005	p.Val305Phe	rs376613031	missense variant	-	NC_000019.10:g.44987298G>T	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val305Ile	rs376613031	missense variant	-	NC_000019.10:g.44987298G>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ser306Phe	COSM3535827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44987302C>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Phe307Ser	rs1428485802	missense variant	-	NC_000019.10:g.44987305T>C	gnomAD
CLPTM1	O96005	p.Phe307Leu	COSM439771	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44987306C>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Ser311Thr	rs780552418	missense variant	-	NC_000019.10:g.44987316T>A	ExAC,gnomAD
CLPTM1	O96005	p.Arg314His	rs769057466	missense variant	-	NC_000019.10:g.44987326G>A	ExAC,gnomAD
CLPTM1	O96005	p.Ala320Asp	rs1355160270	missense variant	-	NC_000019.10:g.44987344C>A	gnomAD
CLPTM1	O96005	p.Thr323Ile	rs769944481	missense variant	-	NC_000019.10:g.44987353C>T	ExAC,gnomAD
CLPTM1	O96005	p.Thr323Ser	rs748376529	missense variant	-	NC_000019.10:g.44987352A>T	ExAC,gnomAD
CLPTM1	O96005	p.Ser325Leu	rs1166081433	missense variant	-	NC_000019.10:g.44987359C>T	gnomAD
CLPTM1	O96005	p.Ser325Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44987358T>A	NCI-TCGA
CLPTM1	O96005	p.Asn328Ser	rs767499149	missense variant	-	NC_000019.10:g.44987368A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Phe329Leu	rs775565145	missense variant	-	NC_000019.10:g.44987372C>A	ExAC,gnomAD
CLPTM1	O96005	p.Gly331Asp	rs763928897	missense variant	-	NC_000019.10:g.44987377G>A	ExAC,gnomAD
CLPTM1	O96005	p.Asp332Asn	rs756893559	missense variant	-	NC_000019.10:g.44987379G>A	ExAC,gnomAD
CLPTM1	O96005	p.Glu333Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44987382G>A	NCI-TCGA
CLPTM1	O96005	p.Tyr335Asn	rs749877186	missense variant	-	NC_000019.10:g.44987388T>A	ExAC,gnomAD
CLPTM1	O96005	p.Tyr335Cys	rs757907129	missense variant	-	NC_000019.10:g.44987389A>G	ExAC,gnomAD
CLPTM1	O96005	p.Glu336Lys	rs375387209	missense variant	-	NC_000019.10:g.44987391G>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gln337Pro	rs1245967389	missense variant	-	NC_000019.10:g.44987395A>C	TOPMed
CLPTM1	O96005	p.Glu340Lys	COSM3797233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44987403G>A	NCI-TCGA Cosmic
CLPTM1	O96005	p.Gln342Ter	rs755484031	stop gained	-	NC_000019.10:g.44987409C>T	ExAC,gnomAD
CLPTM1	O96005	p.Gln342Glu	rs755484031	missense variant	-	NC_000019.10:g.44987409C>G	ExAC,gnomAD
CLPTM1	O96005	p.Val345Met	rs781585955	missense variant	-	NC_000019.10:g.44987418G>A	ExAC,gnomAD
CLPTM1	O96005	p.Lys346Asn	rs748487644	missense variant	-	NC_000019.10:g.44987423G>C	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val347Leu	rs1482109890	missense variant	-	NC_000019.10:g.44988080G>T	gnomAD
CLPTM1	O96005	p.Glu351Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44988092G>A	NCI-TCGA
CLPTM1	O96005	p.Asn353Ser	rs757506581	missense variant	-	NC_000019.10:g.44988099A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala358Thr	rs1464786614	missense variant	-	NC_000019.10:g.44988113G>A	gnomAD
CLPTM1	O96005	p.Ala358Val	rs779015086	missense variant	-	NC_000019.10:g.44988114C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ile361Val	rs780237399	missense variant	-	NC_000019.10:g.44988122A>G	ExAC,gnomAD
CLPTM1	O96005	p.Ile362Val	rs748051771	missense variant	-	NC_000019.10:g.44988125A>G	ExAC,gnomAD
CLPTM1	O96005	p.Val363Met	rs1308589679	missense variant	-	NC_000019.10:g.44988128G>A	gnomAD
CLPTM1	O96005	p.Ser364Cys	rs772947537	missense variant	-	NC_000019.10:g.44988132C>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ile365Val	rs747000562	missense variant	-	NC_000019.10:g.44988134A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ile365Phe	rs747000562	missense variant	-	NC_000019.10:g.44988134A>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val366Ile	rs1484002460	missense variant	-	NC_000019.10:g.44988137G>A	TOPMed,gnomAD
CLPTM1	O96005	p.Ser368Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44988144G>T	NCI-TCGA
CLPTM1	O96005	p.Val369Ile	rs1205983888	missense variant	-	NC_000019.10:g.44988146G>A	gnomAD
CLPTM1	O96005	p.Glu371Lys	rs1457762279	missense variant	-	NC_000019.10:g.44988152G>A	TOPMed,gnomAD
CLPTM1	O96005	p.Asp378Gly	rs1275472013	missense variant	-	NC_000019.10:g.44990395A>G	gnomAD
CLPTM1	O96005	p.Ile379Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44990399C>G	NCI-TCGA
CLPTM1	O96005	p.Ser384Ile	rs751578355	missense variant	-	NC_000019.10:g.44990413G>T	ExAC,gnomAD
CLPTM1	O96005	p.Arg385Leu	rs1191545366	missense variant	-	NC_000019.10:g.44990416G>T	gnomAD
CLPTM1	O96005	p.Arg385Gln	rs1191545366	missense variant	-	NC_000019.10:g.44990416G>A	gnomAD
CLPTM1	O96005	p.Arg385Trp	rs755048212	missense variant	-	NC_000019.10:g.44990415C>T	ExAC,gnomAD
CLPTM1	O96005	p.Arg385Pro	rs1191545366	missense variant	-	NC_000019.10:g.44990416G>C	gnomAD
CLPTM1	O96005	p.Gln386His	COSM1325196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990420G>C	NCI-TCGA Cosmic
CLPTM1	O96005	p.Ser387Pro	rs565094329	missense variant	-	NC_000019.10:g.44990421T>C	1000Genomes,ExAC
CLPTM1	O96005	p.Leu388Met	COSM998110	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990424C>A	NCI-TCGA Cosmic
CLPTM1	O96005	p.Glu389Lys	rs959494770	missense variant	-	NC_000019.10:g.44990427G>A	TOPMed,gnomAD
CLPTM1	O96005	p.Ser392Cys	COSM6151502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990437C>G	NCI-TCGA Cosmic
CLPTM1	O96005	p.Val393Leu	rs757259973	missense variant	-	NC_000019.10:g.44990439G>C	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val393Met	COSM1394519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990439G>A	NCI-TCGA Cosmic
CLPTM1	O96005	p.Arg394Ser	rs777780659	missense variant	-	NC_000019.10:g.44990442C>A	ExAC,gnomAD
CLPTM1	O96005	p.Arg394His	rs745698927	missense variant	-	NC_000019.10:g.44990443G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg394Cys	rs777780659	missense variant	-	NC_000019.10:g.44990442C>T	ExAC,gnomAD
CLPTM1	O96005	p.Val396Ile	rs779855499	missense variant	-	NC_000019.10:g.44990448G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Phe397Val	rs138934999	missense variant	-	NC_000019.10:g.44990451T>G	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gly399Ser	rs369829319	missense variant	-	NC_000019.10:g.44990457G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val400Leu	rs770360744	missense variant	-	NC_000019.10:g.44990460G>C	ExAC,gnomAD
CLPTM1	O96005	p.Val400Ile	rs770360744	missense variant	-	NC_000019.10:g.44990460G>A	ExAC,gnomAD
CLPTM1	O96005	p.Val405Met	rs547487438	missense variant	-	NC_000019.10:g.44990475G>A	1000Genomes,ExAC,gnomAD
CLPTM1	O96005	p.Val406Gly	rs1161677576	missense variant	-	NC_000019.10:g.44990479T>G	TOPMed
CLPTM1	O96005	p.Val406Ile	rs149437878	missense variant	-	NC_000019.10:g.44990478G>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Leu407Val	rs1447867400	missense variant	-	NC_000019.10:g.44990481C>G	gnomAD
CLPTM1	O96005	p.Tyr409His	rs759807366	missense variant	-	NC_000019.10:g.44990487T>C	ExAC,gnomAD
CLPTM1	O96005	p.Asp412Glu	rs908170733	missense variant	-	NC_000019.10:g.44990498C>A	TOPMed
CLPTM1	O96005	p.Asp412Asn	COSM3535831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44990496G>A	NCI-TCGA Cosmic
CLPTM1	O96005	p.Asn413Ser	rs1418637447	missense variant	-	NC_000019.10:g.44990500A>G	gnomAD
CLPTM1	O96005	p.Asn413Tyr	rs1194778255	missense variant	-	NC_000019.10:g.44990499A>T	TOPMed
CLPTM1	O96005	p.Asn413Asp	rs1194778255	missense variant	-	NC_000019.10:g.44990499A>G	TOPMed
CLPTM1	O96005	p.Glu414Lys	rs757094978	missense variant	-	NC_000019.10:g.44990502G>A	ExAC,gnomAD
CLPTM1	O96005	p.Thr415Ile	rs778925393	missense variant	-	NC_000019.10:g.44990506C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Phe417Tyr	rs1402131487	missense variant	-	NC_000019.10:g.44990512T>A	gnomAD
CLPTM1	O96005	p.Val418Met	rs758206898	missense variant	-	NC_000019.10:g.44990514G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gln420Arg	rs571529832	missense variant	-	NC_000019.10:g.44990521A>G	gnomAD
CLPTM1	O96005	p.Val423Ile	rs76182866	missense variant	-	NC_000019.10:g.44990529G>A	1000Genomes,ExAC,gnomAD
CLPTM1	O96005	p.Ile425Leu	rs932463797	missense variant	-	NC_000019.10:g.44990535A>C	TOPMed,gnomAD
CLPTM1	O96005	p.Ile425Thr	rs376872645	missense variant	-	NC_000019.10:g.44990536T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Leu431Ile	rs1373294326	missense variant	-	NC_000019.10:g.44990553C>A	TOPMed
CLPTM1	O96005	p.Thr435Ser	rs745872343	missense variant	-	NC_000019.10:g.44990565A>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Met438Ile	rs774741551	missense variant	-	NC_000019.10:g.44990576G>A	ExAC,gnomAD
CLPTM1	O96005	p.Val440Phe	rs767749890	missense variant	-	NC_000019.10:g.44990580G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val440Ile	rs767749890	missense variant	-	NC_000019.10:g.44990580G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg441Gln	rs151296794	missense variant	-	NC_000019.10:g.44990584G>A	1000Genomes,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg441Trp	rs752663268	missense variant	-	NC_000019.10:g.44990583C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg444Ter	rs1251604975	stop gained	-	NC_000019.10:g.44990856C>T	gnomAD
CLPTM1	O96005	p.Arg444Gln	rs755763918	missense variant	-	NC_000019.10:g.44990857G>A	ExAC,gnomAD
CLPTM1	O96005	p.Glu445Asp	rs141869236	missense variant	-	NC_000019.10:g.44990861G>T	ESP,ExAC,TOPMed
CLPTM1	O96005	p.Arg447Ser	rs201593010	missense variant	-	NC_000019.10:g.44990867G>C	1000Genomes,ExAC,gnomAD
CLPTM1	O96005	p.Val448Met	rs757706926	missense variant	-	NC_000019.10:g.44990868G>A	ExAC,gnomAD
CLPTM1	O96005	p.Ala449Pro	rs779401160	missense variant	-	NC_000019.10:g.44990871G>C	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gly450Val	rs1200912082	missense variant	-	NC_000019.10:g.44990875G>T	gnomAD
CLPTM1	O96005	p.Phe452Cys	rs1438262466	missense variant	-	NC_000019.10:g.44990881T>G	TOPMed
CLPTM1	O96005	p.Arg454Cys	rs746443345	missense variant	-	NC_000019.10:g.44990886C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg454His	rs772411056	missense variant	-	NC_000019.10:g.44990887G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ser456Tyr	rs1464019349	missense variant	-	NC_000019.10:g.44990893C>A	gnomAD
CLPTM1	O96005	p.Ser456Pro	rs775764751	missense variant	-	NC_000019.10:g.44990892T>C	ExAC,gnomAD
CLPTM1	O96005	p.Phe457Ile	rs747220054	missense variant	-	NC_000019.10:g.44990895T>A	ExAC,gnomAD
CLPTM1	O96005	p.Lys458Asn	rs1235352513	missense variant	-	NC_000019.10:g.44990900G>C	TOPMed
CLPTM1	O96005	p.Lys458Gln	rs1250756082	missense variant	-	NC_000019.10:g.44990898A>C	TOPMed,gnomAD
CLPTM1	O96005	p.Asp459Gly	rs376426056	missense variant	-	NC_000019.10:g.44990902A>G	ESP,ExAC,gnomAD
CLPTM1	O96005	p.Ser461Phe	rs1333156934	missense variant	-	NC_000019.10:g.44990908C>T	TOPMed
CLPTM1	O96005	p.Thr462Met	rs1026391756	missense variant	-	NC_000019.10:g.44990911C>T	TOPMed
CLPTM1	O96005	p.Ile464Thr	rs1305457177	missense variant	-	NC_000019.10:g.44990917T>C	TOPMed
CLPTM1	O96005	p.Ile464Val	rs950452524	missense variant	-	NC_000019.10:g.44990916A>G	TOPMed,gnomAD
CLPTM1	O96005	p.Glu465Lys	rs766350533	missense variant	-	NC_000019.10:g.44990919G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ser467Leu	rs1327957623	missense variant	-	NC_000019.10:g.44990926C>T	gnomAD
CLPTM1	O96005	p.Lys469Asn	rs767313756	missense variant	-	NC_000019.10:g.44990933A>C	ExAC,gnomAD
CLPTM1	O96005	p.Met474Leu	rs1355844187	missense variant	-	NC_000019.10:g.44991238A>T	TOPMed
CLPTM1	O96005	p.Ala475Thr	rs764692658	missense variant	-	NC_000019.10:g.44991241G>A	ExAC,gnomAD
CLPTM1	O96005	p.Phe476Cys	rs749963098	missense variant	-	NC_000019.10:g.44991245T>G	ExAC,gnomAD
CLPTM1	O96005	p.Arg477Gln	rs200813739	missense variant	-	NC_000019.10:g.44991248G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg477Trp	rs200860488	missense variant	-	NC_000019.10:g.44991247C>T	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Tyr478Cys	rs140564801	missense variant	-	NC_000019.10:g.44991251A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ser480Phe	COSM3535835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44991257C>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Ile482Val	rs535252761	missense variant	-	NC_000019.10:g.44991262A>G	ExAC,gnomAD
CLPTM1	O96005	p.Ile482Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44991264C>G	NCI-TCGA
CLPTM1	O96005	p.Pro485Leu	rs980051950	missense variant	-	NC_000019.10:g.44991272C>T	TOPMed,gnomAD
CLPTM1	O96005	p.Gly488Ala	rs749341562	missense variant	-	NC_000019.10:g.44991281G>C	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Cys489Tyr	rs1262964144	missense variant	-	NC_000019.10:g.44991284G>A	gnomAD
CLPTM1	O96005	p.Cys489Phe	rs1262964144	missense variant	-	NC_000019.10:g.44991284G>T	gnomAD
CLPTM1	O96005	p.Tyr490Cys	rs1236420322	missense variant	-	NC_000019.10:g.44991287A>G	TOPMed
CLPTM1	O96005	p.Val492Ile	rs200044158	missense variant	-	NC_000019.10:g.44991292G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val492Phe	rs200044158	missense variant	-	NC_000019.10:g.44991292G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Tyr493Cys	rs373740871	missense variant	-	NC_000019.10:g.44991296A>G	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ser494Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44991298A>G	NCI-TCGA
CLPTM1	O96005	p.Leu498Met	rs911230818	missense variant	-	NC_000019.10:g.44991310C>A	gnomAD
CLPTM1	O96005	p.Glu499Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44991315G>T	NCI-TCGA
CLPTM1	O96005	p.Lys501Arg	rs1470844531	missense variant	-	NC_000019.10:g.44991320A>G	gnomAD
CLPTM1	O96005	p.Gly502Ser	rs1168197422	missense variant	-	NC_000019.10:g.44991322G>A	gnomAD
CLPTM1	O96005	p.Trp506Ter	rs1280035207	stop gained	-	NC_000019.10:g.44991336G>A	TOPMed
CLPTM1	O96005	p.Trp506Cys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44991336G>T	NCI-TCGA
CLPTM1	O96005	p.Gly513Ser	rs762373873	missense variant	-	NC_000019.10:g.44991355G>A	ExAC,gnomAD
CLPTM1	O96005	p.Thr517Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44991367A>G	NCI-TCGA
CLPTM1	O96005	p.Gly519Val	rs764614148	missense variant	-	NC_000019.10:g.44992233G>T	ExAC,gnomAD
CLPTM1	O96005	p.Gly519Ser	rs776982525	missense variant	-	NC_000019.10:g.44991373G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Thr524Met	rs372059273	missense variant	-	NC_000019.10:g.44992248C>T	ESP
CLPTM1	O96005	p.Gln526Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44992254A>G	NCI-TCGA
CLPTM1	O96005	p.Leu527Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44992256C>T	NCI-TCGA
CLPTM1	O96005	p.Ser535Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44992281C>T	NCI-TCGA
CLPTM1	O96005	p.His538Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44992289C>A	NCI-TCGA
CLPTM1	O96005	p.Leu539Arg	rs1383322658	missense variant	-	NC_000019.10:g.44992293T>G	gnomAD
CLPTM1	O96005	p.Pro540Ala	rs1443861133	missense variant	-	NC_000019.10:g.44992295C>G	gnomAD
CLPTM1	O96005	p.Trp541Ter	rs1163745449	stop gained	-	NC_000019.10:g.44992299G>A	gnomAD
CLPTM1	O96005	p.Trp541Cys	rs1386548061	missense variant	-	NC_000019.10:g.44992300G>T	gnomAD
CLPTM1	O96005	p.Arg542His	COSM1394525	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44992302G>A	NCI-TCGA Cosmic
CLPTM1	O96005	p.Lys547Thr	rs778814856	missense variant	-	NC_000019.10:g.44992317A>C	ExAC
CLPTM1	O96005	p.Asn550His	rs1317163343	missense variant	-	NC_000019.10:g.44992325A>C	gnomAD
CLPTM1	O96005	p.Phe552Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44992333C>A	NCI-TCGA
CLPTM1	O96005	p.Ile553Val	rs1475790997	missense variant	-	NC_000019.10:g.44992334A>G	TOPMed
CLPTM1	O96005	p.Ala558Thr	rs951486100	missense variant	-	NC_000019.10:g.44992349G>A	-
CLPTM1	O96005	p.Ile561Val	rs773106239	missense variant	-	NC_000019.10:g.44992358A>G	ExAC,gnomAD
CLPTM1	O96005	p.Lys562Arg	rs748859824	missense variant	-	NC_000019.10:g.44992362A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val565Ile	rs369873479	missense variant	-	NC_000019.10:g.44992370G>A	ESP,ExAC,gnomAD
CLPTM1	O96005	p.Arg568Gln	rs1317683689	missense variant	-	NC_000019.10:g.44992380G>A	gnomAD
CLPTM1	O96005	p.Gly570Cys	rs548487634	missense variant	-	NC_000019.10:g.44992385G>T	1000Genomes,ExAC,gnomAD
CLPTM1	O96005	p.Gly570Ser	rs548487634	missense variant	-	NC_000019.10:g.44992385G>A	1000Genomes,ExAC,gnomAD
CLPTM1	O96005	p.Arg573Gln	rs1184109455	missense variant	-	NC_000019.10:g.44992395G>A	gnomAD
CLPTM1	O96005	p.Val576Met	rs200229776	missense variant	-	NC_000019.10:g.44992613G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Tyr581Cys	rs763121084	missense variant	-	NC_000019.10:g.44992629A>G	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Leu582Val	rs373676663	missense variant	-	NC_000019.10:g.44992631C>G	ESP,ExAC,gnomAD
CLPTM1	O96005	p.Arg585Trp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44992640C>T	NCI-TCGA
CLPTM1	O96005	p.Arg585Gln	rs1269973506	missense variant	-	NC_000019.10:g.44992641G>A	gnomAD
CLPTM1	O96005	p.Ile587Thr	rs1192867798	missense variant	-	NC_000019.10:g.44992647T>C	gnomAD
CLPTM1	O96005	p.Ile587Phe	rs759657217	missense variant	-	NC_000019.10:g.44992646A>T	ExAC,gnomAD
CLPTM1	O96005	p.Arg589Leu	rs753795148	missense variant	-	NC_000019.10:g.44992653G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Arg589Cys	rs1451869340	missense variant	-	NC_000019.10:g.44992652C>T	gnomAD
CLPTM1	O96005	p.Arg589His	rs753795148	missense variant	-	NC_000019.10:g.44992653G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val590Ile	rs1427049786	missense variant	-	NC_000019.10:g.44992655G>A	TOPMed
CLPTM1	O96005	p.Asp591Asn	COSM998112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44992658G>A	NCI-TCGA Cosmic
CLPTM1	O96005	p.Pro592Leu	rs1383019489	missense variant	-	NC_000019.10:g.44992662C>T	gnomAD
CLPTM1	O96005	p.Thr593Asn	rs1381445946	missense variant	-	NC_000019.10:g.44992665C>A	TOPMed,gnomAD
CLPTM1	O96005	p.Arg594Ter	COSM1394529	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44992667C>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Glu597Lys	rs1450349917	missense variant	-	NC_000019.10:g.44992676G>A	gnomAD
CLPTM1	O96005	p.Met600Ile	rs1359506612	missense variant	-	NC_000019.10:g.44992687G>A	gnomAD
CLPTM1	O96005	p.Ser601Asn	rs149033841	missense variant	-	NC_000019.10:g.44992689G>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Glu603Gly	rs368031542	missense variant	-	NC_000019.10:g.44992695A>G	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro605Leu	rs746722114	missense variant	-	NC_000019.10:g.44992701C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala608Thr	rs1182264047	missense variant	-	NC_000019.10:g.44992709G>A	gnomAD
CLPTM1	O96005	p.Ala609Thr	rs754494975	missense variant	-	NC_000019.10:g.44992712G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro610Ser	rs1362295316	missense variant	-	NC_000019.10:g.44992715C>T	gnomAD
CLPTM1	O96005	p.Pro610Leu	COSM3535839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44992716C>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Val611Met	rs199735762	missense variant	-	NC_000019.10:g.44992718G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Glu613Lys	rs147801301	missense variant	-	NC_000019.10:g.44992724G>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Val614Ile	rs771354926	missense variant	-	NC_000019.10:g.44992727G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro615His	rs541453713	missense variant	-	NC_000019.10:g.44992731C>A	1000Genomes,gnomAD
CLPTM1	O96005	p.Thr616Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44992734C>T	NCI-TCGA
CLPTM1	O96005	p.Ala618Ser	rs774543273	missense variant	-	NC_000019.10:g.44992739G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala618Pro	rs774543273	missense variant	-	NC_000019.10:g.44992739G>C	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gly619Ala	rs1334878823	missense variant	-	NC_000019.10:g.44992743G>C	gnomAD
CLPTM1	O96005	p.Leu621Phe	rs759726819	missense variant	-	NC_000019.10:g.44992748C>T	ExAC,gnomAD
CLPTM1	O96005	p.Thr622Met	rs141261045	missense variant	-	NC_000019.10:g.44992752C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Thr622Arg	rs141261045	missense variant	-	NC_000019.10:g.44992752C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro623Leu	rs1183730239	missense variant	-	NC_000019.10:g.44992755C>T	gnomAD
CLPTM1	O96005	p.Pro623Ser	rs1462112252	missense variant	-	NC_000019.10:g.44992754C>T	gnomAD
CLPTM1	O96005	p.Thr624Lys	rs761764037	missense variant	-	NC_000019.10:g.44992758C>A	ExAC,gnomAD
CLPTM1	O96005	p.Pro625Leu	rs146714101	missense variant	-	NC_000019.10:g.44992761C>T	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro625Ser	rs1418761022	missense variant	-	NC_000019.10:g.44992760C>T	gnomAD
CLPTM1	O96005	p.Ala626Thr	rs1414398289	missense variant	-	NC_000019.10:g.44992763G>A	gnomAD
CLPTM1	O96005	p.Thr629Met	rs148362509	missense variant	-	NC_000019.10:g.44992773C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala632Thr	rs754626403	missense variant	-	NC_000019.10:g.44992781G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Thr633Ile	rs1395119344	missense variant	-	NC_000019.10:g.44992785C>T	gnomAD
CLPTM1	O96005	p.Glu635Lys	rs1391418163	missense variant	-	NC_000019.10:g.44992790G>A	gnomAD
CLPTM1	O96005	p.Ala637Ser	rs546792040	missense variant	-	NC_000019.10:g.44992796G>T	1000Genomes,ExAC,gnomAD
CLPTM1	O96005	p.Thr639Met	rs752168767	missense variant	-	NC_000019.10:g.44992803C>T	ExAC,gnomAD
CLPTM1	O96005	p.Leu641Pro	rs1340496865	missense variant	-	NC_000019.10:g.44992809T>C	TOPMed
CLPTM1	O96005	p.Pro642Arg	rs140584228	missense variant	-	NC_000019.10:g.44992812C>G	ESP,ExAC,gnomAD
CLPTM1	O96005	p.Pro642Leu	rs140584228	missense variant	-	NC_000019.10:g.44992812C>T	ESP,ExAC,gnomAD
CLPTM1	O96005	p.Pro642Ala	rs1212819864	missense variant	-	NC_000019.10:g.44992811C>G	gnomAD
CLPTM1	O96005	p.Thr643Ile	rs779293110	missense variant	-	NC_000019.10:g.44992815C>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro645Arg	rs371810344	missense variant	-	NC_000019.10:g.44992821C>G	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Thr646Ile	rs1479544347	missense variant	-	NC_000019.10:g.44992824C>T	gnomAD
CLPTM1	O96005	p.Gln647Ter	rs199856102	stop gained	-	NC_000019.10:g.44992826C>T	1000Genomes,ExAC,gnomAD
CLPTM1	O96005	p.Gly648Glu	rs775586434	missense variant	-	NC_000019.10:g.44992830G>A	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Gly648Val	rs775586434	missense variant	-	NC_000019.10:g.44992830G>T	ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Ala649Thr	rs760671649	missense variant	-	NC_000019.10:g.44992832G>A	ExAC,gnomAD
CLPTM1	O96005	p.Ala649Pro	rs760671649	missense variant	-	NC_000019.10:g.44992832G>C	ExAC,gnomAD
CLPTM1	O96005	p.Ala652Val	rs1425316208	missense variant	-	NC_000019.10:g.44992842C>T	gnomAD
CLPTM1	O96005	p.Ser653Gly	rs766244119	missense variant	-	NC_000019.10:g.44992844A>G	ExAC,gnomAD
CLPTM1	O96005	p.Glu654Ter	rs138129932	stop gained	-	NC_000019.10:g.44992847G>T	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Glu654Asp	rs759178546	missense variant	-	NC_000019.10:g.44992849G>T	ExAC,gnomAD
CLPTM1	O96005	p.Glu654Lys	rs138129932	missense variant	-	NC_000019.10:g.44992847G>A	ESP,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Pro655Ser	rs1221242842	missense variant	-	NC_000019.10:g.44992850C>T	gnomAD
CLPTM1	O96005	p.Pro655Leu	rs1400793332	missense variant	-	NC_000019.10:g.44992851C>T	TOPMed
CLPTM1	O96005	p.Ala658Val	rs1294097116	missense variant	-	NC_000019.10:g.44992860C>T	gnomAD
CLPTM1	O96005	p.Pro659Ser	COSM5906089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44992862C>T	NCI-TCGA Cosmic
CLPTM1	O96005	p.Pro662Leu	rs1393589201	missense variant	-	NC_000019.10:g.44992872C>T	gnomAD
CLPTM1	O96005	p.Ala663Thr	rs752461597	missense variant	-	NC_000019.10:g.44992874G>A	ExAC,gnomAD
CLPTM1	O96005	p.Ala663Gly	rs569264813	missense variant	-	NC_000019.10:g.44992875C>G	1000Genomes,ExAC,TOPMed,gnomAD
CLPTM1	O96005	p.Glu664Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44992877G>A	NCI-TCGA
CLPTM1	O96005	p.Lys667Glu	rs757794882	missense variant	-	NC_000019.10:g.44992886A>G	ExAC,gnomAD
CLPTM1	O96005	p.Lys667Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44992887A>T	NCI-TCGA
CLPTM1	O96005	p.Asp669Asn	rs1184491825	missense variant	-	NC_000019.10:g.44992892G>A	gnomAD
WNT11	O96014	p.Arg2Trp	rs1427540351	missense variant	-	NC_000011.10:g.76206404T>A	gnomAD
WNT11	O96014	p.Arg2Met	rs1175710465	missense variant	-	NC_000011.10:g.76206403C>A	gnomAD
WNT11	O96014	p.Arg2Ser	rs1419765942	missense variant	-	NC_000011.10:g.76206402C>G	gnomAD
WNT11	O96014	p.Arg2Gly	rs1427540351	missense variant	-	NC_000011.10:g.76206404T>C	gnomAD
WNT11	O96014	p.Arg4Trp	rs763829974	missense variant	-	NC_000011.10:g.76206398G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg4Pro	rs758652466	missense variant	-	NC_000011.10:g.76206397C>G	ExAC,gnomAD
WNT11	O96014	p.Gln6Glu	rs1362520702	missense variant	-	NC_000011.10:g.76206392G>C	TOPMed
WNT11	O96014	p.Val7Phe	rs1480292792	missense variant	-	NC_000011.10:g.76206389C>A	gnomAD
WNT11	O96014	p.Cys8Tyr	rs765357091	missense variant	-	NC_000011.10:g.76206385C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Glu9Lys	rs1459697623	missense variant	-	NC_000011.10:g.76206383C>T	gnomAD
WNT11	O96014	p.Leu12Phe	rs955609287	missense variant	-	NC_000011.10:g.76206374G>A	TOPMed
WNT11	O96014	p.Ala16Thr	rs766910738	missense variant	-	NC_000011.10:g.76206362C>T	ExAC,gnomAD
WNT11	O96014	p.Gln18His	rs1158265622	missense variant	-	NC_000011.10:g.76206354C>G	gnomAD
WNT11	O96014	p.Gly20Val	rs773731264	missense variant	-	NC_000011.10:g.76206349C>A	ExAC,gnomAD
WNT11	O96014	p.Gly20Cys	rs761201193	missense variant	-	NC_000011.10:g.76206350C>A	ExAC,gnomAD
WNT11	O96014	p.Val21Met	rs772524155	missense variant	-	NC_000011.10:g.76206347C>T	ExAC,gnomAD
WNT11	O96014	p.Cys22Ser	rs1454342130	missense variant	-	NC_000011.10:g.76206344A>T	gnomAD
WNT11	O96014	p.Ile25Asn	rs775257090	missense variant	-	NC_000011.10:g.76206334A>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ile25Val	rs1157076904	missense variant	-	NC_000011.10:g.76206335T>C	gnomAD
WNT11	O96014	p.Lys26Asn	rs1020429252	missense variant	-	NC_000011.10:g.76206330C>G	TOPMed,gnomAD
WNT11	O96014	p.Lys26Glu	rs1470619678	missense variant	-	NC_000011.10:g.76206332T>C	TOPMed,gnomAD
WNT11	O96014	p.Ala29Val	rs771996935	missense variant	-	NC_000011.10:g.76196716G>A	ExAC,gnomAD
WNT11	O96014	p.Ser31Phe	rs778511891	missense variant	-	NC_000011.10:g.76196710G>A	ExAC,gnomAD
WNT11	O96014	p.Thr33Ala	rs1169562111	missense variant	-	NC_000011.10:g.76196705T>C	gnomAD
WNT11	O96014	p.Ala38Thr	rs1196731170	missense variant	-	NC_000011.10:g.76196690C>T	gnomAD
WNT11	O96014	p.Thr42Met	rs200871564	missense variant	-	NC_000011.10:g.76196677G>A	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gln43His	rs1196691096	missense variant	-	NC_000011.10:g.76196673T>G	gnomAD
WNT11	O96014	p.His44Tyr	rs750517838	missense variant	-	NC_000011.10:g.76196672G>A	ExAC,gnomAD
WNT11	O96014	p.Gln47Ter	rs768204710	stop gained	-	NC_000011.10:g.76196663G>A	ExAC,gnomAD
WNT11	O96014	p.Gln47Arg	rs762353612	missense variant	-	NC_000011.10:g.76196662T>C	ExAC,gnomAD
WNT11	O96014	p.Gly50Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76196653C>T	NCI-TCGA
WNT11	O96014	p.Ser53Pro	rs763347082	missense variant	-	NC_000011.10:g.76196645A>G	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser53Thr	rs763347082	missense variant	-	NC_000011.10:g.76196645A>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg60Gly	rs150798006	missense variant	-	NC_000011.10:g.76196624G>C	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg60Cys	rs150798006	missense variant	-	NC_000011.10:g.76196624G>A	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg60Leu	rs201232636	missense variant	-	NC_000011.10:g.76196623C>A	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg60His	rs201232636	missense variant	-	NC_000011.10:g.76196623C>T	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser61Asn	rs141438138	missense variant	-	NC_000011.10:g.76196620C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser61Gly	rs772645921	missense variant	-	NC_000011.10:g.76196621T>C	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asn62Lys	rs370045676	missense variant	-	NC_000011.10:g.76196616G>T	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Leu63Met	rs768373261	missense variant	-	NC_000011.10:g.76196615G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Leu65His	rs972679057	missense variant	-	NC_000011.10:g.76196608A>T	TOPMed,gnomAD
WNT11	O96014	p.Leu65Phe	rs1173549137	missense variant	-	NC_000011.10:g.76196609G>A	TOPMed,gnomAD
WNT11	O96014	p.Leu65Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76196609G>C	NCI-TCGA
WNT11	O96014	p.Leu65Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76196608A>G	NCI-TCGA
WNT11	O96014	p.Met66Leu	rs749086543	missense variant	-	NC_000011.10:g.76196606T>A	ExAC,gnomAD
WNT11	O96014	p.Met66Ile	rs148302020	missense variant	-	NC_000011.10:g.76196604C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Met66Thr	rs780479537	missense variant	-	NC_000011.10:g.76196605A>G	ExAC,TOPMed,gnomAD
WNT11	O96014	p.His67Asn	rs750534442	missense variant	-	NC_000011.10:g.76196603G>T	ExAC,gnomAD
WNT11	O96014	p.Thr68Met	rs781372656	missense variant	-	NC_000011.10:g.76196599G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.His71Asp	rs764642869	missense variant	-	NC_000011.10:g.76196591G>C	ExAC,gnomAD
WNT11	O96014	p.His71Tyr	rs764642869	missense variant	-	NC_000011.10:g.76196591G>A	ExAC,gnomAD
WNT11	O96014	p.Ala72Thr	rs753104980	missense variant	-	NC_000011.10:g.76196588C>T	ExAC,gnomAD
WNT11	O96014	p.Ala73Thr	rs376706959	missense variant	-	NC_000011.10:g.76196585C>T	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala73Ser	rs376706959	missense variant	-	NC_000011.10:g.76196585C>A	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg74His	rs1021179747	missense variant	-	NC_000011.10:g.76196581C>T	TOPMed,gnomAD
WNT11	O96014	p.Arg74Cys	rs771526822	missense variant	-	NC_000011.10:g.76196582G>A	ExAC,gnomAD
WNT11	O96014	p.Arg74Gly	rs771526822	missense variant	-	NC_000011.10:g.76196582G>C	ExAC,gnomAD
WNT11	O96014	p.Glu75Lys	rs774201803	missense variant	-	NC_000011.10:g.76196579C>T	ExAC,gnomAD
WNT11	O96014	p.Met77Thr	rs749104004	missense variant	-	NC_000011.10:g.76196572A>G	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Met77Ile	rs775358596	missense variant	-	NC_000011.10:g.76196571C>T	ExAC,gnomAD
WNT11	O96014	p.Lys78Arg	rs1159851073	missense variant	-	NC_000011.10:g.76196569T>C	gnomAD
WNT11	O96014	p.Lys78Asn	rs1277702831	missense variant	-	NC_000011.10:g.76196568C>G	gnomAD
WNT11	O96014	p.Ala79Asp	rs1471438794	missense variant	-	NC_000011.10:g.76196566G>T	gnomAD
WNT11	O96014	p.Arg81His	rs781536011	missense variant	-	NC_000011.10:g.76196560C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg81Cys	rs746048794	missense variant	-	NC_000011.10:g.76196561G>A	ExAC,gnomAD
WNT11	O96014	p.Arg82Gln	rs747101499	missense variant	-	NC_000011.10:g.76196557C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg82Trp	rs61736889	missense variant	-	NC_000011.10:g.76196558G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala85Thr	rs758876614	missense variant	-	NC_000011.10:g.76196549C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala85Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76196548G>A	NCI-TCGA
WNT11	O96014	p.Asp86Asn	rs1046121955	missense variant	-	NC_000011.10:g.76196546C>T	gnomAD
WNT11	O96014	p.Arg88His	rs1246377363	missense variant	-	NC_000011.10:g.76196539C>T	gnomAD
WNT11	O96014	p.Arg88Ser	rs765532771	missense variant	-	NC_000011.10:g.76196540G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg88Cys	rs765532771	missense variant	-	NC_000011.10:g.76196540G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Trp89Cys	rs750112934	missense variant	-	NC_000011.10:g.76196535C>A	ExAC,gnomAD
WNT11	O96014	p.Ile94Thr	rs767132569	missense variant	-	NC_000011.10:g.76196521A>G	ExAC,gnomAD
WNT11	O96014	p.Ile94Val	rs1446816552	missense variant	-	NC_000011.10:g.76196522T>C	TOPMed,gnomAD
WNT11	O96014	p.Glu95Lys	rs1234617541	missense variant	-	NC_000011.10:g.76196519C>T	TOPMed
WNT11	O96014	p.Glu95Gly	rs1007762442	missense variant	-	NC_000011.10:g.76196518T>C	TOPMed
WNT11	O96014	p.Leu96Phe	rs761286215	missense variant	-	NC_000011.10:g.76196516G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala97Thr	rs763941967	missense variant	-	NC_000011.10:g.76196513C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asn99Lys	rs769752851	missense variant	-	NC_000011.10:g.76196505G>T	ExAC,gnomAD
WNT11	O96014	p.Asn99Thr	rs201947483	missense variant	-	NC_000011.10:g.76196506T>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asn99Ser	rs201947483	missense variant	-	NC_000011.10:g.76196506T>C	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Leu104Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76196491A>G	NCI-TCGA
WNT11	O96014	p.Arg106Gly	rs1237409875	missense variant	-	NC_000011.10:g.76196486T>C	TOPMed
WNT11	O96014	p.Arg109Leu	rs780407053	missense variant	-	NC_000011.10:g.76194838C>A	ExAC,gnomAD
WNT11	O96014	p.Arg109Gln	rs780407053	missense variant	-	NC_000011.10:g.76194838C>T	ExAC,gnomAD
WNT11	O96014	p.Arg109Trp	rs749656752	missense variant	-	NC_000011.10:g.76194839G>A	ExAC,gnomAD
WNT11	O96014	p.Ser111Leu	rs200521278	missense variant	-	NC_000011.10:g.76194832G>A	1000Genomes,gnomAD
WNT11	O96014	p.Val114Met	rs1422921561	missense variant	-	NC_000011.10:g.76194824C>T	gnomAD
WNT11	O96014	p.Tyr115Asn	rs1190518943	missense variant	-	NC_000011.10:g.76194821A>T	gnomAD
WNT11	O96014	p.Ala116Val	rs777270687	missense variant	-	NC_000011.10:g.76194817G>A	ExAC,gnomAD
WNT11	O96014	p.Ser118Leu	rs752253721	missense variant	-	NC_000011.10:g.76194811G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala119Ser	rs1291477956	missense variant	-	NC_000011.10:g.76194809C>A	gnomAD
WNT11	O96014	p.Ala120Thr	rs766162311	missense variant	-	NC_000011.10:g.76194806C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala121Thr	rs1132737	missense variant	-	NC_000011.10:g.76194803C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.His124Tyr	rs772168875	missense variant	-	NC_000011.10:g.76194794G>A	ExAC,gnomAD
WNT11	O96014	p.Ala125Asp	rs1399771939	missense variant	-	NC_000011.10:g.76194790G>T	gnomAD
WNT11	O96014	p.Ala125Thr	rs201061165	missense variant	-	NC_000011.10:g.76194791C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ile126Phe	rs1337669347	missense variant	-	NC_000011.10:g.76194788T>A	gnomAD
WNT11	O96014	p.Ala127Ser	rs1016370203	missense variant	-	NC_000011.10:g.76194785C>A	TOPMed,gnomAD
WNT11	O96014	p.Ala127Val	rs1175520048	missense variant	-	NC_000011.10:g.76194784G>A	TOPMed,gnomAD
WNT11	O96014	p.Ala127Thr	rs1016370203	missense variant	-	NC_000011.10:g.76194785C>T	TOPMed,gnomAD
WNT11	O96014	p.Arg128Gln	rs769163509	missense variant	-	NC_000011.10:g.76194781C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg128Trp	rs763210496	missense variant	-	NC_000011.10:g.76194782G>A	TOPMed,gnomAD
WNT11	O96014	p.Ala129Thr	rs1438881719	missense variant	-	NC_000011.10:g.76194779C>T	gnomAD
WNT11	O96014	p.Cys130Ser	rs1239033025	missense variant	-	NC_000011.10:g.76194775C>G	TOPMed
WNT11	O96014	p.Ser132Tyr	rs1243332909	missense variant	-	NC_000011.10:g.76194769G>T	TOPMed,gnomAD
WNT11	O96014	p.Ser132Phe	rs1243332909	missense variant	-	NC_000011.10:g.76194769G>A	TOPMed,gnomAD
WNT11	O96014	p.Gly133Ser	rs199678134	missense variant	-	NC_000011.10:g.76194767C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gly133Arg	rs199678134	missense variant	-	NC_000011.10:g.76194767C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asp134Glu	rs777550881	missense variant	-	NC_000011.10:g.76194762G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asp134His	rs746206720	missense variant	-	NC_000011.10:g.76194764C>G	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asp134Asn	rs746206720	missense variant	-	NC_000011.10:g.76194764C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Pro136Ser	rs758060677	missense variant	-	NC_000011.10:g.76194758G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Pro136Leu	rs1175300958	missense variant	-	NC_000011.10:g.76194757G>A	gnomAD
WNT11	O96014	p.Pro136Thr	rs758060677	missense variant	-	NC_000011.10:g.76194758G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gly137Ser	rs778521234	missense variant	-	NC_000011.10:g.76194755C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gly141Ser	rs1431593610	missense variant	-	NC_000011.10:g.76194743C>T	TOPMed,gnomAD
WNT11	O96014	p.Gly141Val	rs1362331353	missense variant	-	NC_000011.10:g.76194742C>A	gnomAD
WNT11	O96014	p.Val143Ile	rs750177815	missense variant	-	NC_000011.10:g.76194737C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Val143Ala	rs1166730173	missense variant	-	NC_000011.10:g.76194736A>G	gnomAD
WNT11	O96014	p.Pro144Ser	rs1280660061	missense variant	-	NC_000011.10:g.76194734G>A	TOPMed
WNT11	O96014	p.Pro144Arg	rs1055689550	missense variant	-	NC_000011.10:g.76194733G>C	TOPMed
WNT11	O96014	p.Glu146Lys	rs1421620452	missense variant	-	NC_000011.10:g.76194728C>T	gnomAD
WNT11	O96014	p.Pro148Leu	rs1486579697	missense variant	-	NC_000011.10:g.76194721G>A	gnomAD
WNT11	O96014	p.Pro148Ser	rs1186542917	missense variant	-	NC_000011.10:g.76194722G>A	gnomAD
WNT11	O96014	p.Pro148His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76194721G>T	NCI-TCGA
WNT11	O96014	p.Gly149Arg	rs761963983	missense variant	-	NC_000011.10:g.76194719C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Pro150Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76194715G>A	NCI-TCGA
WNT11	O96014	p.Gly151Arg	rs200232677	missense variant	-	NC_000011.10:g.76194713C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gly151Arg	rs200232677	missense variant	-	NC_000011.10:g.76194713C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg153His	rs762919465	missense variant	-	NC_000011.10:g.76194706C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg153Cys	rs1247453401	missense variant	-	NC_000011.10:g.76194707G>A	TOPMed,gnomAD
WNT11	O96014	p.Trp154Ter	rs201042075	stop gained	-	NC_000011.10:g.76194702C>T	1000Genomes,gnomAD
WNT11	O96014	p.Gly156Glu	COSM4827529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76194697C>T	NCI-TCGA Cosmic
WNT11	O96014	p.Ala158Val	rs371187296	missense variant	-	NC_000011.10:g.76194691G>A	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asn160Ser	rs1399310579	missense variant	-	NC_000011.10:g.76194685T>C	gnomAD
WNT11	O96014	p.Ser162Gly	rs1315047010	missense variant	-	NC_000011.10:g.76194680T>C	TOPMed,gnomAD
WNT11	O96014	p.Gly164Arg	rs1456218239	missense variant	-	NC_000011.10:g.76194674C>T	TOPMed,gnomAD
WNT11	O96014	p.Leu165Phe	rs1367490876	missense variant	-	NC_000011.10:g.76194671G>A	gnomAD
WNT11	O96014	p.Met167Leu	rs1343621123	missense variant	-	NC_000011.10:g.76194665T>G	TOPMed
WNT11	O96014	p.Met167Ile	rs147094954	missense variant	-	NC_000011.10:g.76194663C>T	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala169Thr	rs963039085	missense variant	-	NC_000011.10:g.76194659C>T	gnomAD
WNT11	O96014	p.Lys170Glu	rs1192384435	missense variant	-	NC_000011.10:g.76194656T>C	gnomAD
WNT11	O96014	p.Asp173Asn	rs141745485	missense variant	-	NC_000011.10:g.76194647C>T	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala174Val	rs1211957455	missense variant	-	NC_000011.10:g.76194643G>A	gnomAD
WNT11	O96014	p.Met176Val	rs771869866	missense variant	-	NC_000011.10:g.76194638T>C	ExAC,gnomAD
WNT11	O96014	p.Lys177Arg	rs987156016	missense variant	-	NC_000011.10:g.76194634T>C	TOPMed
WNT11	O96014	p.Lys177Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.76194635T>A	NCI-TCGA
WNT11	O96014	p.Val178Met	rs1437420818	missense variant	-	NC_000011.10:g.76194632C>T	TOPMed
WNT11	O96014	p.Lys179Arg	rs1163593116	missense variant	-	NC_000011.10:g.76194628T>C	gnomAD
WNT11	O96014	p.Lys180Asn	rs1228401597	missense variant	-	NC_000011.10:g.76194624T>G	gnomAD
WNT11	O96014	p.Thr181AsnPheSerTerUnk	COSM1357026	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.76194622_76194623insT	NCI-TCGA Cosmic
WNT11	O96014	p.Thr181GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.76194623T>-	NCI-TCGA
WNT11	O96014	p.Gly182Glu	rs747759946	missense variant	-	NC_000011.10:g.76194619C>T	ExAC,gnomAD
WNT11	O96014	p.Gly182Val	rs747759946	missense variant	-	NC_000011.10:g.76194619C>A	ExAC,gnomAD
WNT11	O96014	p.Ser183Pro	rs778672727	missense variant	-	NC_000011.10:g.76194617A>G	ExAC,gnomAD
WNT11	O96014	p.Ser183Tyr	rs1248504543	missense variant	-	NC_000011.10:g.76194616G>T	TOPMed
WNT11	O96014	p.Gln184Lys	rs200205438	missense variant	-	NC_000011.10:g.76194614G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala185Val	rs1007590159	missense variant	-	NC_000011.10:g.76194610G>A	TOPMed,gnomAD
WNT11	O96014	p.Ala185Asp	rs1007590159	missense variant	-	NC_000011.10:g.76194610G>T	TOPMed,gnomAD
WNT11	O96014	p.Asn186Ile	rs1166444839	missense variant	-	NC_000011.10:g.76194607T>A	TOPMed
WNT11	O96014	p.Asn186Asp	rs1479012903	missense variant	-	NC_000011.10:g.76194608T>C	TOPMed
WNT11	O96014	p.Lys187Asn	rs1325003142	missense variant	-	NC_000011.10:g.76194603T>A	TOPMed
WNT11	O96014	p.Lys187Ile	rs1405573571	missense variant	-	NC_000011.10:g.76194604T>A	TOPMed
WNT11	O96014	p.Lys187Ter	rs1418382933	stop gained	-	NC_000011.10:g.76194605T>A	TOPMed
WNT11	O96014	p.Met189Thr	rs1298589905	missense variant	-	NC_000011.10:g.76194598A>G	gnomAD
WNT11	O96014	p.Met189Ile	rs889939878	missense variant	-	NC_000011.10:g.76194597C>T	TOPMed,gnomAD
WNT11	O96014	p.Arg190Cys	rs1051229461	missense variant	-	NC_000011.10:g.76194596G>A	TOPMed,gnomAD
WNT11	O96014	p.Arg190His	rs558779531	missense variant	-	NC_000011.10:g.76194595C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser194Asn	rs1201611230	missense variant	-	NC_000011.10:g.76194583C>T	gnomAD
WNT11	O96014	p.Ser194Arg	rs1378680953	missense variant	-	NC_000011.10:g.76194584T>G	gnomAD
WNT11	O96014	p.Ala200Ser	rs1452898776	missense variant	-	NC_000011.10:g.76191856C>A	gnomAD
WNT11	O96014	p.Arg202His	rs374455490	missense variant	-	NC_000011.10:g.76191849C>T	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg202Cys	rs779375396	missense variant	-	NC_000011.10:g.76191850G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala203Asp	rs757101648	missense variant	-	NC_000011.10:g.76191846G>T	ExAC,gnomAD
WNT11	O96014	p.Ala203Thr	rs570846693	missense variant	-	NC_000011.10:g.76191847C>T	TOPMed,gnomAD
WNT11	O96014	p.Ala203Val	rs757101648	missense variant	-	NC_000011.10:g.76191846G>A	ExAC,gnomAD
WNT11	O96014	p.Glu206Gln	rs1378840788	missense variant	-	NC_000011.10:g.76191838C>G	gnomAD
WNT11	O96014	p.Met207Ile	COSM1704402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191833C>T	NCI-TCGA Cosmic
WNT11	O96014	p.Met207Thr	rs751350808	missense variant	-	NC_000011.10:g.76191834A>G	ExAC,gnomAD
WNT11	O96014	p.Gly213Arg	rs1302886543	missense variant	-	NC_000011.10:g.76191817C>T	TOPMed
WNT11	O96014	p.Val214Met	rs965246988	missense variant	-	NC_000011.10:g.76191814C>T	TOPMed,gnomAD
WNT11	O96014	p.Gly216Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76191807C>A	NCI-TCGA
WNT11	O96014	p.Ser217Phe	rs758489238	missense variant	-	NC_000011.10:g.76191804G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser217Cys	rs758489238	missense variant	-	NC_000011.10:g.76191804G>C	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser219Cys	rs911080547	missense variant	-	NC_000011.10:g.76191798G>C	TOPMed
WNT11	O96014	p.Arg221Leu	rs753904761	missense variant	-	NC_000011.10:g.76191792C>A	ExAC,gnomAD
WNT11	O96014	p.Arg221His	rs753904761	missense variant	-	NC_000011.10:g.76191792C>T	ExAC,gnomAD
WNT11	O96014	p.Arg221Cys	rs1218682764	missense variant	-	NC_000011.10:g.76191793G>A	TOPMed,gnomAD
WNT11	O96014	p.Thr222Ile	rs765187463	missense variant	-	NC_000011.10:g.76191789G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Thr222Asn	rs765187463	missense variant	-	NC_000011.10:g.76191789G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gly226Arg	rs754441019	missense variant	-	NC_000011.10:g.76191778C>T	ExAC,gnomAD
WNT11	O96014	p.Glu229Lys	rs1326479514	missense variant	-	NC_000011.10:g.76191769C>T	gnomAD
WNT11	O96014	p.Leu230Pro	rs1402393421	missense variant	-	NC_000011.10:g.76191765A>G	gnomAD
WNT11	O96014	p.Asp232Gly	rs1208227945	missense variant	-	NC_000011.10:g.76191759T>C	TOPMed
WNT11	O96014	p.Ala234Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76191753G>A	NCI-TCGA
WNT11	O96014	p.Ala235Thr	rs1203403474	missense variant	-	NC_000011.10:g.76191751C>T	gnomAD
WNT11	O96014	p.Ala235Gly	rs1297907664	missense variant	-	NC_000011.10:g.76191750G>C	gnomAD
WNT11	O96014	p.Leu237Val	COSM932053	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191745G>C	NCI-TCGA Cosmic
WNT11	O96014	p.Lys238Asn	rs762465797	missense variant	-	NC_000011.10:g.76191740C>G	ExAC,gnomAD
WNT11	O96014	p.Thr239Ala	rs775097764	missense variant	-	NC_000011.10:g.76191739T>C	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg240Gln	rs140169859	missense variant	-	NC_000011.10:g.76191735C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg240Ter	rs1161648725	stop gained	-	NC_000011.10:g.76191736G>A	gnomAD
WNT11	O96014	p.Tyr241His	rs1286965869	missense variant	-	NC_000011.10:g.76191733A>G	gnomAD
WNT11	O96014	p.Leu242Pro	rs745360856	missense variant	-	NC_000011.10:g.76191729A>G	ExAC,gnomAD
WNT11	O96014	p.Leu242Arg	COSM932052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191729A>C	NCI-TCGA Cosmic
WNT11	O96014	p.Ser243Leu	rs781172349	missense variant	-	NC_000011.10:g.76191726G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ala244Thr	rs1262407117	missense variant	-	NC_000011.10:g.76191724C>T	gnomAD
WNT11	O96014	p.Thr245Ala	rs746817533	missense variant	-	NC_000011.10:g.76191721T>C	ExAC,gnomAD
WNT11	O96014	p.Thr245Ser	rs746817533	missense variant	-	NC_000011.10:g.76191721T>A	ExAC,gnomAD
WNT11	O96014	p.Val248Ala	rs376730016	missense variant	-	NC_000011.10:g.76191711A>G	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Val248Gly	rs376730016	missense variant	-	NC_000011.10:g.76191711A>C	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.His249Asp	rs1318234526	missense variant	-	NC_000011.10:g.76191709G>C	gnomAD
WNT11	O96014	p.His249Gln	rs752898406	missense variant	-	NC_000011.10:g.76191707G>C	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg250Gln	rs528803907	missense variant	-	NC_000011.10:g.76191705C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg250Ter	rs755075137	stop gained	-	NC_000011.10:g.76191706G>A	ExAC,gnomAD
WNT11	O96014	p.Pro251Leu	COSM3453403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191702G>A	NCI-TCGA Cosmic
WNT11	O96014	p.Met252Thr	rs1456375563	missense variant	-	NC_000011.10:g.76191699A>G	TOPMed
WNT11	O96014	p.Met252Leu	rs767000407	missense variant	-	NC_000011.10:g.76191700T>G	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gly253Val	rs761208995	missense variant	-	NC_000011.10:g.76191696C>A	ExAC,gnomAD
WNT11	O96014	p.Arg255Cys	rs372285002	missense variant	-	NC_000011.10:g.76191691G>A	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg255His	rs150685279	missense variant	-	NC_000011.10:g.76191690C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.His257Gln	rs1464050217	missense variant	-	NC_000011.10:g.76191683G>C	TOPMed
WNT11	O96014	p.Val259Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76191678A>G	NCI-TCGA
WNT11	O96014	p.Pro260His	rs775055023	missense variant	-	NC_000011.10:g.76191675G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Pro260Leu	rs775055023	missense variant	-	NC_000011.10:g.76191675G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Pro260Thr	rs762207237	missense variant	-	NC_000011.10:g.76191676G>T	ExAC,gnomAD
WNT11	O96014	p.Lys261Asn	COSM6070350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76191671C>A	NCI-TCGA Cosmic
WNT11	O96014	p.Asp262Glu	rs769482761	missense variant	-	NC_000011.10:g.76191668G>C	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ile265Met	rs1286189100	missense variant	-	NC_000011.10:g.76191659G>C	TOPMed
WNT11	O96014	p.Arg266Trp	rs915179991	missense variant	-	NC_000011.10:g.76191658G>A	TOPMed,gnomAD
WNT11	O96014	p.Arg266Gln	rs990623129	missense variant	-	NC_000011.10:g.76191657C>T	TOPMed,gnomAD
WNT11	O96014	p.Pro267Ala	rs776060379	missense variant	-	NC_000011.10:g.76191655G>C	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Pro267Thr	rs776060379	missense variant	-	NC_000011.10:g.76191655G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Val268Leu	rs770874966	missense variant	-	NC_000011.10:g.76191652C>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Val268Met	rs770874966	missense variant	-	NC_000011.10:g.76191652C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Lys269Asn	rs746907143	missense variant	-	NC_000011.10:g.76191647C>G	ExAC
WNT11	O96014	p.Lys269Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76191647C>A	NCI-TCGA
WNT11	O96014	p.Ser271Trp	rs1053301	missense variant	-	NC_000011.10:g.76191642G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser271Leu	rs1053301	missense variant	-	NC_000011.10:g.76191642G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser271Ala	rs1208059426	missense variant	-	NC_000011.10:g.76191643A>C	TOPMed
WNT11	O96014	p.Leu273Phe	rs1316715364	missense variant	-	NC_000011.10:g.76191637G>A	gnomAD
WNT11	O96014	p.Val274Phe	rs780236055	missense variant	-	NC_000011.10:g.76191634C>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Val274Ile	rs780236055	missense variant	-	NC_000011.10:g.76191634C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gln277His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76191623C>A	NCI-TCGA
WNT11	O96014	p.Ser278Arg	rs757621734	missense variant	-	NC_000011.10:g.76191620G>T	ExAC,gnomAD
WNT11	O96014	p.Ser278Ile	rs1174013486	missense variant	-	NC_000011.10:g.76191621C>A	gnomAD
WNT11	O96014	p.Ser278Arg	rs751009445	missense variant	-	NC_000011.10:g.76191622T>G	ExAC
WNT11	O96014	p.Asp281Asn	rs751885211	missense variant	-	NC_000011.10:g.76191613C>T	ExAC,gnomAD
WNT11	O96014	p.Glu287Asp	rs764808739	missense variant	-	NC_000011.10:g.76191593C>G	ExAC,gnomAD
WNT11	O96014	p.Val289Met	rs368098788	missense variant	-	NC_000011.10:g.76191589C>T	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gly290Ala	rs1306016383	missense variant	-	NC_000011.10:g.76191585C>G	TOPMed
WNT11	O96014	p.Gly290Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76191585C>A	NCI-TCGA
WNT11	O96014	p.Ser291Thr	rs1369731847	missense variant	-	NC_000011.10:g.76191583A>T	TOPMed
WNT11	O96014	p.Gly293Trp	rs765911237	missense variant	-	NC_000011.10:g.76191577C>A	ExAC,TOPMed
WNT11	O96014	p.Gly293Arg	rs765911237	missense variant	-	NC_000011.10:g.76191577C>T	ExAC,TOPMed
WNT11	O96014	p.Thr294Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76191573G>C	NCI-TCGA
WNT11	O96014	p.Gln295Lys	rs201578613	missense variant	-	NC_000011.10:g.76191571G>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gln295Glu	rs201578613	missense variant	-	NC_000011.10:g.76191571G>C	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Gln295Ter	rs201578613	stop gained	-	NC_000011.10:g.76191571G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asp296Gly	rs1191153940	missense variant	-	NC_000011.10:g.76191567T>C	gnomAD
WNT11	O96014	p.Gln298Ter	rs1250072968	stop gained	-	NC_000011.10:g.76187238G>A	gnomAD
WNT11	O96014	p.Lys301Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76187227C>A	NCI-TCGA
WNT11	O96014	p.Lys301Asn	rs1021925005	missense variant	-	NC_000011.10:g.76187227C>G	TOPMed
WNT11	O96014	p.Gly305Arg	rs752714038	missense variant	-	NC_000011.10:g.76187217C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser306Arg	rs775912689	missense variant	-	NC_000011.10:g.76187212G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asp307Asn	rs770136447	missense variant	-	NC_000011.10:g.76187211C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Ser308Arg	rs1362382326	missense variant	-	NC_000011.10:g.76187206G>T	gnomAD
WNT11	O96014	p.Ser308Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76187207C>T	NCI-TCGA
WNT11	O96014	p.Cys309Ter	rs145963588	stop gained	-	NC_000011.10:g.76187203G>T	ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Cys309Ser	rs1296058949	missense variant	-	NC_000011.10:g.76187205A>T	gnomAD
WNT11	O96014	p.Asp310Tyr	rs771371866	missense variant	-	NC_000011.10:g.76187202C>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asp310Asn	rs771371866	missense variant	-	NC_000011.10:g.76187202C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Asp310His	rs771371866	missense variant	-	NC_000011.10:g.76187202C>G	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Leu311His	rs1166437977	missense variant	-	NC_000011.10:g.76187198A>T	gnomAD
WNT11	O96014	p.Met312Leu	rs1421745497	missense variant	-	NC_000011.10:g.76187196T>A	gnomAD
WNT11	O96014	p.Met312Ile	rs1279535011	missense variant	-	NC_000011.10:g.76187194C>T	gnomAD
WNT11	O96014	p.Cys313Tyr	rs1416516098	missense variant	-	NC_000011.10:g.76187192C>T	gnomAD
WNT11	O96014	p.Gly315Arg	rs778229304	missense variant	-	NC_000011.10:g.76187187C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg316His	rs758816226	missense variant	-	NC_000011.10:g.76187183C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg316Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76187184G>C	NCI-TCGA
WNT11	O96014	p.Arg316His	RCV000172903	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000011.10:g.76187183C>T	ClinVar
WNT11	O96014	p.Tyr321Cys	COSM4036776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76187168T>C	NCI-TCGA Cosmic
WNT11	O96014	p.Asp323His	rs753052445	missense variant	-	NC_000011.10:g.76187163C>G	ExAC,gnomAD
WNT11	O96014	p.Asp323Glu	rs1266452703	missense variant	-	NC_000011.10:g.76187161G>C	gnomAD
WNT11	O96014	p.Asp323Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76187162T>C	NCI-TCGA
WNT11	O96014	p.Arg324Cys	rs779689536	missense variant	-	NC_000011.10:g.76187160G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg324His	rs755738744	missense variant	-	NC_000011.10:g.76187159C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg324Leu	rs755738744	missense variant	-	NC_000011.10:g.76187159C>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Val325Met	rs751567375	missense variant	-	NC_000011.10:g.76187157C>T	ExAC,gnomAD
WNT11	O96014	p.Val325Leu	rs751567375	missense variant	-	NC_000011.10:g.76187157C>A	ExAC,gnomAD
WNT11	O96014	p.Glu327Lys	rs148453764	missense variant	-	NC_000011.10:g.76187151C>T	ESP,gnomAD
WNT11	O96014	p.Arg328Gln	rs559115261	missense variant	-	NC_000011.10:g.76187147C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg328Trp	rs762909664	missense variant	-	NC_000011.10:g.76187148G>A	ExAC,gnomAD
WNT11	O96014	p.Cys331Tyr	rs940362550	missense variant	-	NC_000011.10:g.76187138C>T	gnomAD
WNT11	O96014	p.Cys331Ser	rs940362550	missense variant	-	NC_000011.10:g.76187138C>G	gnomAD
WNT11	O96014	p.His334Pro	rs1393289398	missense variant	-	NC_000011.10:g.76187129T>G	gnomAD
WNT11	O96014	p.Tyr338Ter	rs144527675	stop gained	-	NC_000011.10:g.76187116G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT11	O96014	p.Val339Ile	rs759762868	missense variant	-	NC_000011.10:g.76187115C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Val339Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76187114A>G	NCI-TCGA
WNT11	O96014	p.Thr340Pro	rs776685568	missense variant	-	NC_000011.10:g.76187112T>G	ExAC,gnomAD
WNT11	O96014	p.Cys341Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.76187109A>G	NCI-TCGA
WNT11	O96014	p.Arg342Ser	rs771088448	missense variant	-	NC_000011.10:g.76187106G>T	ExAC,gnomAD
WNT11	O96014	p.Arg342His	rs747044515	missense variant	-	NC_000011.10:g.76187105C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg342Cys	rs771088448	missense variant	-	NC_000011.10:g.76187106G>A	ExAC,gnomAD
WNT11	O96014	p.Arg343Lys	rs1193291113	missense variant	-	NC_000011.10:g.76187102C>T	TOPMed,gnomAD
WNT11	O96014	p.Arg343Ser	rs199900382	missense variant	-	NC_000011.10:g.76187101C>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Cys344Phe	COSM3967840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76187099C>A	NCI-TCGA Cosmic
WNT11	O96014	p.Glu345Ala	rs1272817587	missense variant	-	NC_000011.10:g.76187096T>G	gnomAD
WNT11	O96014	p.Arg346Cys	rs772496816	missense variant	-	NC_000011.10:g.76187094G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg346His	rs149329237	missense variant	-	NC_000011.10:g.76187093C>T	ESP,ExAC,gnomAD
WNT11	O96014	p.Arg346Ser	rs772496816	missense variant	-	NC_000011.10:g.76187094G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Thr347Ala	rs1256294900	missense variant	-	NC_000011.10:g.76187091T>C	gnomAD
WNT11	O96014	p.Val348Met	rs755755807	missense variant	-	NC_000011.10:g.76187088C>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Glu349Lys	rs1384880608	missense variant	-	NC_000011.10:g.76187085C>T	TOPMed,gnomAD
WNT11	O96014	p.Arg350His	rs751111073	missense variant	-	NC_000011.10:g.76187081C>T	ExAC,gnomAD
WNT11	O96014	p.Arg350Ser	rs756851051	missense variant	-	NC_000011.10:g.76187082G>T	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Arg350Cys	rs756851051	missense variant	-	NC_000011.10:g.76187082G>A	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Tyr351His	rs764133378	missense variant	-	NC_000011.10:g.76187079A>G	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Tyr351Cys	COSM291093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.76187078T>C	NCI-TCGA Cosmic
WNT11	O96014	p.Tyr351Ser	rs762934293	missense variant	-	NC_000011.10:g.76187078T>G	ExAC,TOPMed,gnomAD
WNT11	O96014	p.Val352Phe	rs138625233	missense variant	-	NC_000011.10:g.76187076C>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Phe3Leu	rs917196718	missense variant	-	NC_000004.12:g.1900663T>G	TOPMed
NSD2	O96028	p.Ser4Asn	rs753120179	missense variant	-	NC_000004.12:g.1900665G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser4Asn	RCV000273154	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900665G>A	ClinVar
NSD2	O96028	p.Gln7Glu	rs770543236	missense variant	-	NC_000004.12:g.1900673C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu10Val	rs1328532362	missense variant	-	NC_000004.12:g.1900682C>G	gnomAD
NSD2	O96028	p.Ser11Phe	COSM3602800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900686C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Ser11Cys	rs199734752	missense variant	-	NC_000004.12:g.1900686C>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val12Leu	rs372147092	missense variant	-	NC_000004.12:g.1900688G>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser14Thr	rs769348800	missense variant	-	NC_000004.12:g.1900695G>C	ExAC,gnomAD
NSD2	O96028	p.Val16Ile	rs1350111590	missense variant	-	NC_000004.12:g.1900700G>A	gnomAD
NSD2	O96028	p.Val16Leu	rs1350111590	missense variant	-	NC_000004.12:g.1900700G>T	gnomAD
NSD2	O96028	p.Lys17Asn	rs762019994	missense variant	-	NC_000004.12:g.1900705G>C	ExAC,gnomAD
NSD2	O96028	p.Cys18Gly	rs1263717370	missense variant	-	NC_000004.12:g.1900706T>G	gnomAD
NSD2	O96028	p.Ile19Val	rs1464089790	missense variant	-	NC_000004.12:g.1900709A>G	gnomAD
NSD2	O96028	p.Lys20Asn	rs765662635	missense variant	-	NC_000004.12:g.1900714G>C	ExAC,gnomAD
NSD2	O96028	p.Met21Arg	COSM3602802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900716T>G	NCI-TCGA Cosmic
NSD2	O96028	p.Gln23Glu	rs1198342544	missense variant	-	NC_000004.12:g.1900721C>G	gnomAD
NSD2	O96028	p.Pro25Thr	rs546312898	missense variant	-	NC_000004.12:g.1900727C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ile27Asn	COSM1054414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900734T>A	NCI-TCGA Cosmic
NSD2	O96028	p.Ile27Val	rs1362685503	missense variant	-	NC_000004.12:g.1900733A>G	gnomAD
NSD2	O96028	p.Gly29Ser	rs754895784	missense variant	-	NC_000004.12:g.1900739G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asn32Ser	rs1423297284	missense variant	-	NC_000004.12:g.1900749A>G	gnomAD
NSD2	O96028	p.Gly33Arg	rs774534172	missense variant	-	NC_000004.12:g.1900751G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys34Arg	rs1305185045	missense variant	-	NC_000004.12:g.1900755A>G	gnomAD
NSD2	O96028	p.Lys34Asn	rs777673792	missense variant	-	NC_000004.12:g.1900756G>T	ExAC,gnomAD
NSD2	O96028	p.Thr35Ala	rs748919506	missense variant	-	NC_000004.12:g.1900757A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro36Leu	rs778558019	missense variant	-	NC_000004.12:g.1900761C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu39Lys	rs1490792778	missense variant	-	NC_000004.12:g.1900769G>A	gnomAD
NSD2	O96028	p.Glu39Gly	rs1400660779	missense variant	-	NC_000004.12:g.1900770A>G	TOPMed
NSD2	O96028	p.Arg42His	COSM1054415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900779G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Glu43Lys	rs1165866735	missense variant	-	NC_000004.12:g.1900781G>A	TOPMed
NSD2	O96028	p.Cys44Phe	rs1249333230	missense variant	-	NC_000004.12:g.1900785G>T	gnomAD
NSD2	O96028	p.Leu48Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1900796C>A	NCI-TCGA
NSD2	O96028	p.Gln52Ter	RCV000760760	nonsense	-	NC_000004.12:g.1900808C>T	ClinVar
NSD2	O96028	p.Gln52Ter	rs748707745	stop gained	-	NC_000004.12:g.1900808C>T	ExAC,gnomAD
NSD2	O96028	p.Leu53Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1900811C>T	NCI-TCGA
NSD2	O96028	p.Ser55Gly	rs770028586	missense variant	-	NC_000004.12:g.1900817A>G	ExAC,gnomAD
NSD2	O96028	p.Ser56Gly	rs773660936	missense variant	-	NC_000004.12:g.1900820A>G	ExAC,gnomAD
NSD2	O96028	p.Leu57Met	rs546522074	missense variant	-	NC_000004.12:g.1900823C>A	gnomAD
NSD2	O96028	p.Glu59Lys	rs1443100451	missense variant	-	NC_000004.12:g.1900829G>A	TOPMed
NSD2	O96028	p.Gly60Arg	rs1366552622	missense variant	-	NC_000004.12:g.1900832G>A	TOPMed,gnomAD
NSD2	O96028	p.Met62Val	rs890741591	missense variant	-	NC_000004.12:g.1900838A>G	TOPMed,gnomAD
NSD2	O96028	p.Met62Thr	rs766646098	missense variant	-	NC_000004.12:g.1900839T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly67Ser	rs202235551	missense variant	-	NC_000004.12:g.1900853G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly67Ser	RCV000269913	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900853G>A	ClinVar
NSD2	O96028	p.His68Arg	rs752556934	missense variant	-	NC_000004.12:g.1900857A>G	ExAC,gnomAD
NSD2	O96028	p.Asp69Asn	rs1401743505	missense variant	-	NC_000004.12:g.1900859G>A	gnomAD
NSD2	O96028	p.Ala70Asp	rs757135156	missense variant	-	NC_000004.12:g.1900863C>A	ExAC,gnomAD
NSD2	O96028	p.Ala70Thr	rs753748334	missense variant	-	NC_000004.12:g.1900862G>A	ExAC,gnomAD
NSD2	O96028	p.Leu71Pro	rs1197242726	missense variant	-	NC_000004.12:g.1900866T>C	gnomAD
NSD2	O96028	p.Pro72Leu	COSM3602804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900869C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Pro75Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1900878C>T	NCI-TCGA
NSD2	O96028	p.Pro75Ala	rs748567663	missense variant	-	NC_000004.12:g.1900877C>G	ExAC,gnomAD
NSD2	O96028	p.Ala76Thr	rs770395467	missense variant	-	NC_000004.12:g.1900880G>A	ExAC,gnomAD
NSD2	O96028	p.Ala76Ser	rs770395467	missense variant	-	NC_000004.12:g.1900880G>T	ExAC,gnomAD
NSD2	O96028	p.Asp77Asn	rs749595883	missense variant	-	NC_000004.12:g.1900883G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp77Glu	rs200621548	missense variant	-	NC_000004.12:g.1900885C>G	TOPMed
NSD2	O96028	p.Asp81Tyr	rs771287635	missense variant	-	NC_000004.12:g.1900895G>T	ExAC,gnomAD
NSD2	O96028	p.Ser84Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1900905C>T	NCI-TCGA
NSD2	O96028	p.Arg85Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1900908G>T	NCI-TCGA
NSD2	O96028	p.Arg85Trp	rs201573732	missense variant	-	NC_000004.12:g.1900907C>T	ExAC,gnomAD
NSD2	O96028	p.Arg85Gln	rs759803629	missense variant	-	NC_000004.12:g.1900908G>A	ExAC,gnomAD
NSD2	O96028	p.Gly89Glu	rs772015827	missense variant	-	NC_000004.12:g.1900920G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly92Ser	rs764038848	missense variant	-	NC_000004.12:g.1900928G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala93Thr	rs761663126	missense variant	-	NC_000004.12:g.1900931G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His94Tyr	rs1260819566	missense variant	-	NC_000004.12:g.1900934C>T	gnomAD
NSD2	O96028	p.Ala96Ser	rs1263035862	missense variant	-	NC_000004.12:g.1900940G>T	gnomAD
NSD2	O96028	p.Lys97Arg	rs376638264	missense variant	-	NC_000004.12:g.1900944A>G	ESP,TOPMed,gnomAD
NSD2	O96028	p.Lys97Gln	rs909009733	missense variant	-	NC_000004.12:g.1900943A>C	TOPMed,gnomAD
NSD2	O96028	p.Lys97Glu	rs909009733	missense variant	-	NC_000004.12:g.1900943A>G	TOPMed,gnomAD
NSD2	O96028	p.Lys97Thr	rs376638264	missense variant	-	NC_000004.12:g.1900944A>C	ESP,TOPMed,gnomAD
NSD2	O96028	p.Leu98Arg	rs1261446605	missense variant	-	NC_000004.12:g.1900947T>G	gnomAD
NSD2	O96028	p.Leu98Val	rs758105062	missense variant	-	NC_000004.12:g.1900946C>G	ExAC,gnomAD
NSD2	O96028	p.Arg99Cys	rs779422565	missense variant	-	NC_000004.12:g.1900949C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg99His	rs751138696	missense variant	-	NC_000004.12:g.1900950G>A	ExAC,gnomAD
NSD2	O96028	p.Glu101Asp	rs925579283	missense variant	-	NC_000004.12:g.1900957G>C	TOPMed
NSD2	O96028	p.Ser102Thr	rs754460633	missense variant	-	NC_000004.12:g.1900958T>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser102Cys	rs778184509	missense variant	-	NC_000004.12:g.1900959C>G	ExAC,gnomAD
NSD2	O96028	p.Gln103Glu	rs749825396	missense variant	-	NC_000004.12:g.1900961C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln103Arg	rs974437164	missense variant	-	NC_000004.12:g.1900962A>G	TOPMed,gnomAD
NSD2	O96028	p.Met105Val	rs1428525782	missense variant	-	NC_000004.12:g.1900967A>G	gnomAD
NSD2	O96028	p.Lys106Glu	rs1271075487	missense variant	-	NC_000004.12:g.1900970A>G	TOPMed
NSD2	O96028	p.Gly107Arg	rs771265108	missense variant	-	NC_000004.12:g.1900973G>A	ExAC,gnomAD
NSD2	O96028	p.Ile108Phe	rs1362608884	missense variant	-	NC_000004.12:g.1900976A>T	gnomAD
NSD2	O96028	p.Gly109Trp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1900979G>T	NCI-TCGA
NSD2	O96028	p.Pro111Leu	rs746073848	missense variant	-	NC_000004.12:g.1900986C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro111Thr	rs541714722	missense variant	-	NC_000004.12:g.1900985C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Pro111Arg	rs746073848	missense variant	-	NC_000004.12:g.1900986C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro112Thr	rs1192924102	missense variant	-	NC_000004.12:g.1900988C>A	gnomAD
NSD2	O96028	p.Pro112Arg	rs1322308834	missense variant	-	NC_000004.12:g.1900989C>G	gnomAD
NSD2	O96028	p.Asn113Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1900984_1900985insC	NCI-TCGA
NSD2	O96028	p.Thr114Ser	rs200319561	missense variant	-	NC_000004.12:g.1900995C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro116Ser	rs564864503	missense variant	-	NC_000004.12:g.1901000C>T	gnomAD
NSD2	O96028	p.Ile117Thr	rs78479906	missense variant	-	NC_000004.12:g.1901004T>C	1000Genomes,ExAC
NSD2	O96028	p.Ile117Val	rs775593120	missense variant	-	NC_000004.12:g.1901003A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser121Cys	rs1196229263	missense variant	-	NC_000004.12:g.1901016C>G	gnomAD
NSD2	O96028	p.Ser121Pro	rs1486493780	missense variant	-	NC_000004.12:g.1901015T>C	gnomAD
NSD2	O96028	p.Ile128Val	rs1175154998	missense variant	-	NC_000004.12:g.1901036A>G	gnomAD
NSD2	O96028	p.Met133Thr	rs140401180	missense variant	-	NC_000004.12:g.1901052T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly135Arg	rs765090322	missense variant	-	NC_000004.12:g.1901057G>A	ExAC,gnomAD
NSD2	O96028	p.Lys136Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1901060A>G	NCI-TCGA
NSD2	O96028	p.Pro137Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1901064C>T	NCI-TCGA
NSD2	O96028	p.Leu138Val	rs1421443584	missense variant	-	NC_000004.12:g.1901066C>G	gnomAD
NSD2	O96028	p.Ile143Met	rs762496382	missense variant	-	NC_000004.12:g.1901083T>G	ExAC,gnomAD
NSD2	O96028	p.Cys144Tyr	rs373286964	missense variant	-	NC_000004.12:g.1901085G>A	ESP,TOPMed
NSD2	O96028	p.Ser147Thr	rs765998236	missense variant	-	NC_000004.12:g.1901094G>C	ExAC,TOPMed
NSD2	O96028	p.Ala149Thr	rs145603828	missense variant	-	NC_000004.12:g.1901099G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val151Ala	rs754468750	missense variant	-	NC_000004.12:g.1901106T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser154Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1901115C>T	NCI-TCGA
NSD2	O96028	p.Glu155Gln	COSM4818298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1901117G>C	NCI-TCGA Cosmic
NSD2	O96028	p.Glu155Lys	rs754314502	missense variant	-	NC_000004.12:g.1901117G>A	ExAC,gnomAD
NSD2	O96028	p.Asn157Tyr	COSM1567386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1901123A>T	NCI-TCGA Cosmic
NSD2	O96028	p.Asn157Thr	rs757829574	missense variant	-	NC_000004.12:g.1901124A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly158Arg	rs779235854	missense variant	-	NC_000004.12:g.1901126G>A	ExAC,gnomAD
NSD2	O96028	p.Pro161Thr	rs568583435	missense variant	-	NC_000004.12:g.1901135C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Glu162Gln	rs758697327	missense variant	-	NC_000004.12:g.1901138G>C	ExAC,gnomAD
NSD2	O96028	p.Asn163Lys	rs780286540	missense variant	-	NC_000004.12:g.1901143C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala165Val	rs373161300	missense variant	-	NC_000004.12:g.1901148C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg167Ser	rs1324420839	missense variant	-	NC_000004.12:g.1901155G>T	TOPMed
NSD2	O96028	p.Arg171Lys	rs768831620	missense variant	-	NC_000004.12:g.1901166G>A	ExAC,gnomAD
NSD2	O96028	p.Arg171Thr	rs768831620	missense variant	-	NC_000004.12:g.1901166G>C	ExAC,gnomAD
NSD2	O96028	p.Ser172Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1901168A>T	NCI-TCGA
NSD2	O96028	p.Ile173Val	rs1055872699	missense variant	-	NC_000004.12:g.1901171A>G	TOPMed
NSD2	O96028	p.Ile173Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1901171A>C	NCI-TCGA
NSD2	O96028	p.Ile173Met	rs1441448478	missense variant	-	NC_000004.12:g.1901173A>G	gnomAD
NSD2	O96028	p.Lys174Thr	rs776888983	missense variant	-	NC_000004.12:g.1901175A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr175Cys	rs748089712	missense variant	-	NC_000004.12:g.1901178A>G	ExAC,TOPMed
NSD2	O96028	p.Ser177Phe	COSM4400729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1901184C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Leu178Ser	rs1325306850	missense variant	-	NC_000004.12:g.1901187T>C	gnomAD
NSD2	O96028	p.Glu180Asp	rs1352348277	missense variant	-	NC_000004.12:g.1901194G>T	gnomAD
NSD2	O96028	p.Gln181Arg	rs994171255	missense variant	-	NC_000004.12:g.1901196A>G	TOPMed,gnomAD
NSD2	O96028	p.Gln181His	rs769906407	missense variant	-	NC_000004.12:g.1901197G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly182Ser	rs773295682	missense variant	-	NC_000004.12:g.1901198G>A	ExAC,gnomAD
NSD2	O96028	p.Gly182Asp	rs1026029934	missense variant	-	NC_000004.12:g.1901199G>A	TOPMed,gnomAD
NSD2	O96028	p.Leu183Val	rs1024108009	missense variant	-	NC_000004.12:g.1901201C>G	TOPMed
NSD2	O96028	p.Val184Ala	rs1313506074	missense variant	-	NC_000004.12:g.1901205T>C	TOPMed,gnomAD
NSD2	O96028	p.Glu185Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1901207G>A	NCI-TCGA
NSD2	O96028	p.Leu188Val	RCV000279153	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1901216C>G	ClinVar
NSD2	O96028	p.Leu188Phe	rs886059315	missense variant	-	NC_000004.12:g.1901216C>T	gnomAD
NSD2	O96028	p.Leu188Val	rs886059315	missense variant	-	NC_000004.12:g.1901216C>G	gnomAD
NSD2	O96028	p.Val189Met	rs1292473830	missense variant	-	NC_000004.12:g.1901219G>A	gnomAD
NSD2	O96028	p.Ser190LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1901221_1901222insCTGCTTCCTTTTTTTCCCCC	NCI-TCGA
NSD2	O96028	p.Ile192Val	rs1436285466	missense variant	-	NC_000004.12:g.1901228A>G	TOPMed,gnomAD
NSD2	O96028	p.Ser193Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1901231T>A	NCI-TCGA
NSD2	O96028	p.Pro195Ala	COSM3775750	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1901237C>G	NCI-TCGA Cosmic
NSD2	O96028	p.Pro195Leu	rs752263356	missense variant	-	NC_000004.12:g.1901238C>T	ExAC,gnomAD
NSD2	O96028	p.Ile200AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1901245_1901246insA	NCI-TCGA
NSD2	O96028	p.Glu205Gln	rs1398870006	missense variant	-	NC_000004.12:g.1904231G>C	gnomAD
NSD2	O96028	p.Ser206Cys	rs1325234907	missense variant	-	NC_000004.12:g.1904235C>G	TOPMed,gnomAD
NSD2	O96028	p.Pro208Thr	rs1430402689	missense variant	-	NC_000004.12:g.1904240C>A	gnomAD
NSD2	O96028	p.Thr210Ala	rs766759466	missense variant	-	NC_000004.12:g.1904246A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly211Glu	rs192103195	missense variant	-	NC_000004.12:g.1904250G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Arg212Gly	rs781497272	missense variant	-	NC_000004.12:g.1904252A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg212Thr	rs1345867166	missense variant	-	NC_000004.12:g.1904253G>C	gnomAD
NSD2	O96028	p.Lys214Glu	rs1373329229	missense variant	-	NC_000004.12:g.1904258A>G	TOPMed
NSD2	O96028	p.Asp215Gly	rs756213696	missense variant	-	NC_000004.12:g.1904262A>G	ExAC,gnomAD
NSD2	O96028	p.His216Tyr	rs557801913	missense variant	-	NC_000004.12:g.1904264C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Asn221Ser	rs577771710	missense variant	-	NC_000004.12:g.1904280A>G	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val222Ile	rs150146753	missense variant	-	NC_000004.12:g.1904282G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys229Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1904303A>G	NCI-TCGA
NSD2	O96028	p.Val230Ala	rs1460755399	missense variant	-	NC_000004.12:g.1904307T>C	TOPMed
NSD2	O96028	p.Ser231Leu	rs750127826	missense variant	-	NC_000004.12:g.1904310C>T	ExAC,gnomAD
NSD2	O96028	p.Gly232Arg	rs768184951	missense variant	-	NC_000004.12:g.1904312G>C	ExAC,gnomAD
NSD2	O96028	p.Trp236Ter	RCV000736076	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1904326G>A	ClinVar
NSD2	O96028	p.Met239Val	rs1403312398	missense variant	-	NC_000004.12:g.1904333A>G	gnomAD
NSD2	O96028	p.Leu245Phe	rs776067673	missense variant	-	NC_000004.12:g.1904351C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu245Val	rs776067673	missense variant	-	NC_000004.12:g.1904351C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser248Asn	rs1235439143	missense variant	-	NC_000004.12:g.1904361G>A	gnomAD
NSD2	O96028	p.Tyr249His	rs1241410661	missense variant	-	NC_000004.12:g.1904363T>C	TOPMed,gnomAD
NSD2	O96028	p.Lys251Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1904370A>C	NCI-TCGA
NSD2	O96028	p.Lys251Arg	rs766736390	missense variant	-	NC_000004.12:g.1904370A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser258GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1916875_1916876insA	NCI-TCGA
NSD2	O96028	p.Ala259Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1916885G>T	NCI-TCGA
NSD2	O96028	p.Arg260Cys	COSM1054429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1916888C>T	NCI-TCGA Cosmic
NSD2	O96028	p.His263Tyr	COSM1309964	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1916897C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Val264Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1916900G>A	NCI-TCGA
NSD2	O96028	p.Gln265Ter	RCV000736077	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1916903C>T	ClinVar
NSD2	O96028	p.Ala270Val	rs556204462	missense variant	-	NC_000004.12:g.1916919C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ala270Thr	rs372805518	missense variant	-	NC_000004.12:g.1916918G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Ala274Ser	rs754123039	missense variant	-	NC_000004.12:g.1916930G>T	ExAC,gnomAD
NSD2	O96028	p.Ala274Thr	rs754123039	missense variant	-	NC_000004.12:g.1916930G>A	ExAC,gnomAD
NSD2	O96028	p.Trp275Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1916934G>T	NCI-TCGA
NSD2	O96028	p.Ile276Met	rs757238305	missense variant	-	NC_000004.12:g.1916938A>G	ExAC,gnomAD
NSD2	O96028	p.Phe277Leu	rs377282154	missense variant	-	NC_000004.12:g.1916939T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu278Asp	rs773417934	missense variant	-	NC_000004.12:g.1916944G>C	TOPMed,gnomAD
NSD2	O96028	p.Ser280Gly	rs1162158242	missense variant	-	NC_000004.12:g.1916948A>G	gnomAD
NSD2	O96028	p.Leu281Ile	rs750333708	missense variant	-	NC_000004.12:g.1916951C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val282Ile	rs1033486520	missense variant	-	NC_000004.12:g.1916954G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala283Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1916957G>A	NCI-TCGA
NSD2	O96028	p.Ala283Gly	rs1466344253	missense variant	-	NC_000004.12:g.1916958C>G	gnomAD
NSD2	O96028	p.Phe284Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1916961T>G	NCI-TCGA
NSD2	O96028	p.Glu285Asp	COSM6167351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1916965A>C	NCI-TCGA Cosmic
NSD2	O96028	p.Glu287Gly	rs746743921	missense variant	-	NC_000004.12:g.1916970A>G	ExAC,gnomAD
NSD2	O96028	p.Gly288Glu	rs754805178	missense variant	-	NC_000004.12:g.1916973G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu291Gly	rs1303399819	missense variant	-	NC_000004.12:g.1916982A>G	gnomAD
NSD2	O96028	p.Lys292Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.1916987_1916988insAAAATGTTAGAGAATGAAAGTTAGAATCTGGGATGAAAC	NCI-TCGA
NSD2	O96028	p.Cys294Arg	rs769162551	missense variant	-	NC_000004.12:g.1916990T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Cys294Gly	rs769162551	missense variant	-	NC_000004.12:g.1916990T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Cys294Phe	rs1334376909	missense variant	-	NC_000004.12:g.1916991G>T	gnomAD
NSD2	O96028	p.Gln295Leu	RCV000391888	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1916994A>T	ClinVar
NSD2	O96028	p.Gln295Arg	rs144431814	missense variant	-	NC_000004.12:g.1916994A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln295Leu	rs144431814	missense variant	-	NC_000004.12:g.1916994A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu296Gly	rs746372645	missense variant	-	NC_000004.12:g.1916997A>G	ExAC
NSD2	O96028	p.Pro302Ser	rs202207779	missense variant	-	NC_000004.12:g.1917014C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala305Val	rs1260679780	missense variant	-	NC_000004.12:g.1917024C>T	gnomAD
NSD2	O96028	p.Glu306Gly	rs1356191814	missense variant	-	NC_000004.12:g.1917027A>G	TOPMed,gnomAD
NSD2	O96028	p.Ile308Thr	rs967018941	missense variant	-	NC_000004.12:g.1917033T>C	TOPMed
NSD2	O96028	p.Ile308Met	rs760909823	missense variant	-	NC_000004.12:g.1917034T>G	ExAC,gnomAD
NSD2	O96028	p.Leu311Phe	rs1238040522	missense variant	-	NC_000004.12:g.1918146G>T	gnomAD
NSD2	O96028	p.Ile314Val	RCV000339914	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918153A>G	ClinVar
NSD2	O96028	p.Ile314Val	rs371529672	missense variant	-	NC_000004.12:g.1918153A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser315Ala	rs770598241	missense variant	-	NC_000004.12:g.1918156T>G	ExAC,gnomAD
NSD2	O96028	p.Ser315Leu	rs1488845434	missense variant	-	NC_000004.12:g.1918157C>T	gnomAD
NSD2	O96028	p.Arg319Lys	rs1266982310	missense variant	-	NC_000004.12:g.1918169G>A	gnomAD
NSD2	O96028	p.Ala320Thr	rs747603711	missense variant	-	NC_000004.12:g.1918171G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln321His	rs1427424974	missense variant	-	NC_000004.12:g.1918176G>T	gnomAD
NSD2	O96028	p.Val327Phe	rs1380872489	missense variant	-	NC_000004.12:g.1918192G>T	TOPMed,gnomAD
NSD2	O96028	p.Gln328Glu	rs761932000	missense variant	-	NC_000004.12:g.1918195C>G	ExAC,gnomAD
NSD2	O96028	p.Ala329Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1918199C>G	NCI-TCGA
NSD2	O96028	p.Ala333Val	rs1359955856	missense variant	-	NC_000004.12:g.1918211C>T	TOPMed
NSD2	O96028	p.Ser334Gly	rs1294763394	missense variant	-	NC_000004.12:g.1918213A>G	gnomAD
NSD2	O96028	p.Met335Thr	rs1238576646	missense variant	-	NC_000004.12:g.1918217T>C	gnomAD
NSD2	O96028	p.Met335Val	rs762977766	missense variant	-	NC_000004.12:g.1918216A>G	ExAC,gnomAD
NSD2	O96028	p.Met335Leu	rs762977766	missense variant	-	NC_000004.12:g.1918216A>C	ExAC,gnomAD
NSD2	O96028	p.Ser336Leu	rs1355075058	missense variant	-	NC_000004.12:g.1918220C>T	gnomAD
NSD2	O96028	p.Ser336Pro	rs766466000	missense variant	-	NC_000004.12:g.1918219T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val337Met	COSM1429066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918222G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Val337Glu	rs1432951280	missense variant	-	NC_000004.12:g.1918223T>A	TOPMed
NSD2	O96028	p.Arg340Gln	rs1159806209	missense variant	-	NC_000004.12:g.1918232G>A	TOPMed
NSD2	O96028	p.Ala342Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1918237G>T	NCI-TCGA
NSD2	O96028	p.Phe344Tyr	rs1288253121	missense variant	-	NC_000004.12:g.1918244T>A	gnomAD
NSD2	O96028	p.Thr345Ile	rs1422010407	missense variant	-	NC_000004.12:g.1918247C>T	TOPMed
NSD2	O96028	p.Phe346Ile	rs759556940	missense variant	-	NC_000004.12:g.1918249T>A	ExAC
NSD2	O96028	p.Tyr348Cys	rs752594374	missense variant	-	NC_000004.12:g.1918256A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr348Phe	rs752594374	missense variant	-	NC_000004.12:g.1918256A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr348His	rs1248495684	missense variant	-	NC_000004.12:g.1918255T>C	gnomAD
NSD2	O96028	p.Val349Met	rs777528706	missense variant	-	NC_000004.12:g.1918258G>A	ExAC,gnomAD
NSD2	O96028	p.Gly350Glu	rs1238838764	missense variant	-	NC_000004.12:g.1918262G>A	TOPMed
NSD2	O96028	p.Asp351Glu	rs1161442762	missense variant	-	NC_000004.12:g.1918266C>A	gnomAD
NSD2	O96028	p.Leu353Val	rs1185258343	missense variant	-	NC_000004.12:g.1918270C>G	TOPMed
NSD2	O96028	p.His354Leu	rs1485072620	missense variant	-	NC_000004.12:g.1918274A>T	TOPMed
NSD2	O96028	p.Val359Leu	rs1405575368	missense variant	-	NC_000004.12:g.1918288G>T	gnomAD
NSD2	O96028	p.Ala360Val	rs1166527461	missense variant	-	NC_000004.12:g.1918292C>T	TOPMed,gnomAD
NSD2	O96028	p.Ala360Asp	rs1166527461	missense variant	-	NC_000004.12:g.1918292C>A	TOPMed,gnomAD
NSD2	O96028	p.Lys361Arg	rs1445338131	missense variant	-	NC_000004.12:g.1918295A>G	gnomAD
NSD2	O96028	p.Lys361Gln	rs199762353	missense variant	-	NC_000004.12:g.1918294A>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu362Val	rs747469766	missense variant	-	NC_000004.12:g.1918298A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu362Asp	rs769268150	missense variant	-	NC_000004.12:g.1918299G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala363Thr	rs1449724087	missense variant	-	NC_000004.12:g.1918300G>A	gnomAD
NSD2	O96028	p.Ala366Val	rs1356140581	missense variant	-	NC_000004.12:g.1918310C>T	gnomAD
NSD2	O96028	p.Ala367Val	rs1229281568	missense variant	-	NC_000004.12:g.1918313C>T	TOPMed,gnomAD
NSD2	O96028	p.Glu368Lys	rs1292228347	missense variant	-	NC_000004.12:g.1918315G>A	gnomAD
NSD2	O96028	p.Ser369Tyr	rs1198012129	missense variant	-	NC_000004.12:g.1918319C>A	gnomAD
NSD2	O96028	p.Ser369Pro	rs1316305610	missense variant	-	NC_000004.12:g.1918318T>C	gnomAD
NSD2	O96028	p.Leu370Ser	rs1238938071	missense variant	-	NC_000004.12:g.1918322T>C	TOPMed,gnomAD
NSD2	O96028	p.Gly371Glu	rs1340467827	missense variant	-	NC_000004.12:g.1918325G>A	gnomAD
NSD2	O96028	p.Ala374Glu	rs773370922	missense variant	-	NC_000004.12:g.1918334C>A	ExAC,gnomAD
NSD2	O96028	p.Ala374Thr	rs770171601	missense variant	-	NC_000004.12:g.1918333G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala374Val	rs773370922	missense variant	-	NC_000004.12:g.1918334C>T	ExAC,gnomAD
NSD2	O96028	p.Glu375Lys	rs763209260	missense variant	-	NC_000004.12:g.1918336G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser376Phe	rs1472983214	missense variant	-	NC_000004.12:g.1918340C>T	gnomAD
NSD2	O96028	p.Gly378Glu	rs140212386	missense variant	-	NC_000004.12:g.1918346G>A	ESP,TOPMed
NSD2	O96028	p.Val379Ile	rs770966499	missense variant	-	NC_000004.12:g.1918348G>A	ExAC,gnomAD
NSD2	O96028	p.Val379Phe	rs770966499	missense variant	-	NC_000004.12:g.1918348G>T	ExAC,gnomAD
NSD2	O96028	p.Ser380Asn	rs1416878451	missense variant	-	NC_000004.12:g.1918352G>A	gnomAD
NSD2	O96028	p.Ser380Arg	rs774556109	missense variant	-	NC_000004.12:g.1918353T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu381Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.1918354G>T	NCI-TCGA
NSD2	O96028	p.Glu382Lys	rs759377936	missense variant	-	NC_000004.12:g.1918357G>A	ExAC,gnomAD
NSD2	O96028	p.Ala383Gly	rs1401905410	missense variant	-	NC_000004.12:g.1918361C>G	TOPMed,gnomAD
NSD2	O96028	p.Ala384Thr	rs767422079	missense variant	-	NC_000004.12:g.1918363G>A	ExAC,gnomAD
NSD2	O96028	p.Pro387Ala	rs1340418858	missense variant	-	NC_000004.12:g.1918372C>G	gnomAD
NSD2	O96028	p.Lys388Arg	rs760499309	missense variant	-	NC_000004.12:g.1918376A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Thr	rs760499309	missense variant	-	NC_000004.12:g.1918376A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Asn	rs753512534	missense variant	-	NC_000004.12:g.1918377G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Asn	rs753512534	missense variant	-	NC_000004.12:g.1918377G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser389Pro	rs1338705176	missense variant	-	NC_000004.12:g.1918378T>C	gnomAD
NSD2	O96028	p.Val390Leu	rs749895097	missense variant	-	NC_000004.12:g.1918381G>C	ExAC,gnomAD
NSD2	O96028	p.Arg391Gly	rs890082810	missense variant	-	NC_000004.12:g.1918384A>G	TOPMed
NSD2	O96028	p.Glu392AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1918388_1918389insCTTTGGCATGTGGCATGGAAGGGATAAGAAGT	NCI-TCGA
NSD2	O96028	p.Glu393Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1918392G>T	NCI-TCGA
NSD2	O96028	p.Cys394Tyr	rs1320151142	missense variant	-	NC_000004.12:g.1918394G>A	TOPMed,gnomAD
NSD2	O96028	p.Cys394Phe	rs1320151142	missense variant	-	NC_000004.12:g.1918394G>T	TOPMed,gnomAD
NSD2	O96028	p.Ile395Val	rs757846841	missense variant	-	NC_000004.12:g.1918396A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys398Asn	COSM6167347	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918407G>T	NCI-TCGA Cosmic
NSD2	O96028	p.Arg401Trp	rs1211896693	missense variant	-	NC_000004.12:g.1918414C>T	TOPMed,gnomAD
NSD2	O96028	p.Arg401Gln	rs748673417	missense variant	-	NC_000004.12:g.1918415G>A	ExAC,gnomAD
NSD2	O96028	p.Arg402Lys	rs1477277482	missense variant	-	NC_000004.12:g.1918418G>A	gnomAD
NSD2	O96028	p.Glu410Asp	rs1323304367	missense variant	-	NC_000004.12:g.1918443G>T	TOPMed
NSD2	O96028	p.Glu410Val	rs1222147246	missense variant	-	NC_000004.12:g.1918442A>T	TOPMed
NSD2	O96028	p.Thr411Ile	rs1270991536	missense variant	-	NC_000004.12:g.1918445C>T	TOPMed
NSD2	O96028	p.Glu413Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1918452G>T	NCI-TCGA
NSD2	O96028	p.Ser414Thr	rs1171494347	missense variant	-	NC_000004.12:g.1918454G>C	gnomAD
NSD2	O96028	p.Pro416Ser	rs1278980140	missense variant	-	NC_000004.12:g.1918459C>T	TOPMed
NSD2	O96028	p.Asp417Asn	rs745921448	missense variant	-	NC_000004.12:g.1918462G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly419Arg	COSM3602825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918468G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Gly419Glu	rs544842635	missense variant	-	NC_000004.12:g.1918469G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys420Glu	rs775476451	missense variant	-	NC_000004.12:g.1918471A>G	ExAC,gnomAD
NSD2	O96028	p.Ser421Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1918474A>G	NCI-TCGA
NSD2	O96028	p.Ser421Arg	rs1202036637	missense variant	-	NC_000004.12:g.1918474A>C	TOPMed,gnomAD
NSD2	O96028	p.Thr422Ile	rs1027089911	missense variant	-	NC_000004.12:g.1918478C>T	TOPMed
NSD2	O96028	p.Pro423Leu	rs1231087793	missense variant	-	NC_000004.12:g.1918481C>T	TOPMed,gnomAD
NSD2	O96028	p.Pro423Ser	rs775406978	missense variant	-	NC_000004.12:g.1918480C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr426Met	rs200784805	missense variant	-	NC_000004.12:g.1918490C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu428Asp	rs764880891	missense variant	-	NC_000004.12:g.1918497G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala429Asp	rs1418109519	missense variant	-	NC_000004.12:g.1918499C>A	TOPMed
NSD2	O96028	p.Asp430Gly	COSM1485903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918502A>G	NCI-TCGA Cosmic
NSD2	O96028	p.Pro431Ser	rs1217095015	missense variant	-	NC_000004.12:g.1918504C>T	TOPMed,gnomAD
NSD2	O96028	p.Arg432Ser	rs757872063	missense variant	-	NC_000004.12:g.1918509A>C	ExAC,gnomAD
NSD2	O96028	p.Arg432Gly	rs1449515277	missense variant	-	NC_000004.12:g.1918507A>G	gnomAD
NSD2	O96028	p.Gly434Arg	COSM1137175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918513G>C	NCI-TCGA Cosmic
NSD2	O96028	p.Val435Ile	rs765853067	missense variant	-	NC_000004.12:g.1918516G>A	ExAC,gnomAD
NSD2	O96028	p.Gly436Val	rs769930210	missense variant	-	NC_000004.12:g.1918520G>T	ExAC,gnomAD
NSD2	O96028	p.Gly436Glu	rs769930210	missense variant	-	NC_000004.12:g.1918520G>A	ExAC,gnomAD
NSD2	O96028	p.Gly436Arg	rs1478631765	missense variant	-	NC_000004.12:g.1918519G>A	gnomAD
NSD2	O96028	p.Pro438Leu	rs533653843	missense variant	-	NC_000004.12:g.1918526C>T	gnomAD
NSD2	O96028	p.Pro439His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1918529C>A	NCI-TCGA
NSD2	O96028	p.Pro439Ser	rs1024984881	missense variant	-	NC_000004.12:g.1918528C>T	TOPMed,gnomAD
NSD2	O96028	p.Pro439Ala	rs1024984881	missense variant	-	NC_000004.12:g.1918528C>G	TOPMed,gnomAD
NSD2	O96028	p.Pro439Leu	rs1299204529	missense variant	-	NC_000004.12:g.1918529C>T	gnomAD
NSD2	O96028	p.Arg441Trp	rs1258951493	missense variant	-	NC_000004.12:g.1918534A>T	TOPMed
NSD2	O96028	p.Lys442Arg	rs778096764	missense variant	-	NC_000004.12:g.1918538A>G	ExAC,gnomAD
NSD2	O96028	p.Thr444Ala	RCV000309220	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918543A>G	ClinVar
NSD2	O96028	p.Thr444Asn	rs1235550316	missense variant	-	NC_000004.12:g.1918544C>A	gnomAD
NSD2	O96028	p.Thr444Ala	rs112014939	missense variant	-	NC_000004.12:g.1918543A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser447Cys	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>G	TOPMed,gnomAD
NSD2	O96028	p.Ser447Tyr	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>A	TOPMed,gnomAD
NSD2	O96028	p.Ser447Phe	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>T	TOPMed,gnomAD
NSD2	O96028	p.Met448Ile	rs1220362986	missense variant	-	NC_000004.12:g.1918557G>T	TOPMed
NSD2	O96028	p.Met448Val	rs1352916117	missense variant	-	NC_000004.12:g.1918555A>G	gnomAD
NSD2	O96028	p.Pro449Ser	rs757593548	missense variant	-	NC_000004.12:g.1918558C>T	ExAC,gnomAD
NSD2	O96028	p.Arg450Gln	rs146822227	missense variant	-	NC_000004.12:g.1918562G>A	1000Genomes,ExAC
NSD2	O96028	p.Ser451Asn	rs528156709	missense variant	-	NC_000004.12:g.1918565G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ser451Gly	rs746127427	missense variant	-	NC_000004.12:g.1918564A>G	ExAC,gnomAD
NSD2	O96028	p.Arg452Lys	rs775781891	missense variant	-	NC_000004.12:g.1918568G>A	ExAC,gnomAD
NSD2	O96028	p.Arg452Trp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1918567A>T	NCI-TCGA
NSD2	O96028	p.Asp455Gly	rs551480723	missense variant	-	NC_000004.12:g.1918577A>G	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala456Gly	rs1173566157	missense variant	-	NC_000004.12:g.1918580C>G	gnomAD
NSD2	O96028	p.Ala456Pro	rs1301786203	missense variant	-	NC_000004.12:g.1918579G>C	TOPMed
NSD2	O96028	p.Gln459Arg	rs768660174	missense variant	-	NC_000004.12:g.1918589A>G	ExAC,gnomAD
NSD2	O96028	p.Leu461Phe	rs776718972	missense variant	-	NC_000004.12:g.1918596G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val462Ile	rs909812134	missense variant	-	NC_000004.12:g.1918597G>A	TOPMed,gnomAD
NSD2	O96028	p.Phe463Cys	rs1460113219	missense variant	-	NC_000004.12:g.1918601T>G	TOPMed
NSD2	O96028	p.Gln465Arg	rs200573697	missense variant	-	NC_000004.12:g.1918607A>G	TOPMed,gnomAD
NSD2	O96028	p.His467Tyr	rs1365973299	missense variant	-	NC_000004.12:g.1918612C>T	gnomAD
NSD2	O96028	p.Arg468Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1918617G>T	NCI-TCGA
NSD2	O96028	p.Asp469Asn	rs772894930	missense variant	-	NC_000004.12:g.1918618G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp469Glu	rs762549754	missense variant	-	NC_000004.12:g.1918620T>A	ExAC,gnomAD
NSD2	O96028	p.Glu470Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1918623G>T	NCI-TCGA
NSD2	O96028	p.Glu470Lys	rs1393187232	missense variant	-	NC_000004.12:g.1918621G>A	TOPMed
NSD2	O96028	p.Val471Leu	rs762295992	missense variant	-	NC_000004.12:g.1930626G>T	ExAC,gnomAD
NSD2	O96028	p.Glu474Asp	COSM1429090	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1930637G>T	NCI-TCGA Cosmic
NSD2	O96028	p.Pro476Ala	rs372548092	missense variant	-	NC_000004.12:g.1930641C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro476Ser	rs372548092	missense variant	-	NC_000004.12:g.1930641C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp477Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1930644G>T	NCI-TCGA
NSD2	O96028	p.Ser479Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1930651C>T	NCI-TCGA
NSD2	O96028	p.Glu482Gly	rs750699195	missense variant	-	NC_000004.12:g.1930660A>G	ExAC,gnomAD
NSD2	O96028	p.Ile483Thr	rs758798682	missense variant	-	NC_000004.12:g.1930663T>C	ExAC,gnomAD
NSD2	O96028	p.Ile483Met	rs780387498	missense variant	-	NC_000004.12:g.1930664T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu485Ter	rs1465546689	stop gained	-	NC_000004.12:g.1930668G>T	gnomAD
NSD2	O96028	p.Glu485Val	rs1303202014	missense variant	-	NC_000004.12:g.1930669A>T	gnomAD
NSD2	O96028	p.Glu485Asp	rs536667286	missense variant	-	NC_000004.12:g.1930670G>C	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ser495Asn	rs1424170850	missense variant	-	NC_000004.12:g.1930699G>A	TOPMed
NSD2	O96028	p.Ala500Thr	rs781458614	missense variant	-	NC_000004.12:g.1930713G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg501Cys	COSM4123995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1930716C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Arg501His	COSM1054431	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1930717G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Leu508Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1930737C>G	NCI-TCGA
NSD2	O96028	p.Val509Leu	rs748110450	missense variant	-	NC_000004.12:g.1930740G>C	ExAC,gnomAD
NSD2	O96028	p.Ala510Val	rs769675903	missense variant	-	NC_000004.12:g.1930744C>T	ExAC,gnomAD
NSD2	O96028	p.Ala510Pro	rs1256922030	missense variant	-	NC_000004.12:g.1930743G>C	gnomAD
NSD2	O96028	p.Val512Leu	rs777777950	missense variant	-	NC_000004.12:g.1930749G>C	ExAC,gnomAD
NSD2	O96028	p.Ala514Thr	rs1262675030	missense variant	-	NC_000004.12:g.1930755G>A	gnomAD
NSD2	O96028	p.Ala514Gly	rs1028583535	missense variant	-	NC_000004.12:g.1930756C>G	TOPMed,gnomAD
NSD2	O96028	p.Glu515Lys	rs1188354432	missense variant	-	NC_000004.12:g.1930758G>A	gnomAD
NSD2	O96028	p.Glu516Asp	rs748968237	missense variant	-	NC_000004.12:g.1930763A>C	ExAC,gnomAD
NSD2	O96028	p.Gly519Ala	rs768231623	missense variant	-	NC_000004.12:g.1935144G>C	ExAC
NSD2	O96028	p.Val521Gly	rs763599385	missense variant	-	NC_000004.12:g.1935150T>G	ExAC,gnomAD
NSD2	O96028	p.Val521Leu	rs184269531	missense variant	-	NC_000004.12:g.1935149G>C	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val521Ile	rs184269531	missense variant	-	NC_000004.12:g.1935149G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Asn522Ser	rs766849084	missense variant	-	NC_000004.12:g.1935153A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly523Glu	rs1373823679	missense variant	-	NC_000004.12:g.1935156G>A	gnomAD
NSD2	O96028	p.Gly523Glu	rs1373823679	missense variant	-	NC_000004.12:g.1935156G>A	NCI-TCGA
NSD2	O96028	p.Lys524Arg	rs1404880935	missense variant	-	NC_000004.12:g.1935159A>G	TOPMed
NSD2	O96028	p.Lys524Ter	RCV000736075	frameshift	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1935157dup	ClinVar
NSD2	O96028	p.Lys525Arg	COSM1309966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1935162A>G	NCI-TCGA Cosmic
NSD2	O96028	p.Lys525Glu	rs376083183	missense variant	-	NC_000004.12:g.1935161A>G	ESP,ExAC,gnomAD
NSD2	O96028	p.Arg526Ile	COSM1054432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1935165G>T	NCI-TCGA Cosmic
NSD2	O96028	p.Arg526Gly	rs767569743	missense variant	-	NC_000004.12:g.1935164A>G	ExAC,gnomAD
NSD2	O96028	p.Arg526Lys	rs1158851983	missense variant	-	NC_000004.12:g.1935165G>A	TOPMed
NSD2	O96028	p.His528Gln	RCV000269277	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935172C>A	ClinVar
NSD2	O96028	p.His528Asn	RCV000366205	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935170C>A	ClinVar
NSD2	O96028	p.His528Asn	rs139753036	missense variant	-	NC_000004.12:g.1935170C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.His528Gln	rs149810908	missense variant	-	NC_000004.12:g.1935172C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr529Ile	rs1439655332	missense variant	-	NC_000004.12:g.1935174C>T	TOPMed
NSD2	O96028	p.Thr529Pro	rs145704598	missense variant	-	NC_000004.12:g.1935173A>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg531Thr	rs140468997	missense variant	-	NC_000004.12:g.1935180G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile532Ter	RCV000657550	frameshift	-	NC_000004.12:g.1935176_1935177dup	ClinVar
NSD2	O96028	p.Thr536Ile	rs758217696	missense variant	-	NC_000004.12:g.1935195C>T	ExAC,gnomAD
NSD2	O96028	p.Asp538Val	rs201639781	missense variant	-	NC_000004.12:g.1935201A>T	1000Genomes,TOPMed
NSD2	O96028	p.Ala539Thr	rs746720577	missense variant	-	NC_000004.12:g.1935203G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu540Lys	rs768024031	missense variant	-	NC_000004.12:g.1935206G>A	ExAC
NSD2	O96028	p.Ala541Val	rs1405664178	missense variant	-	NC_000004.12:g.1935210C>T	gnomAD
NSD2	O96028	p.Asp543Asn	COSM1054433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1935215G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Asp543Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1935216A>T	NCI-TCGA
NSD2	O96028	p.Thr544Ala	rs776275446	missense variant	-	NC_000004.12:g.1935218A>G	ExAC,gnomAD
NSD2	O96028	p.Pro545Ser	rs749802617	missense variant	-	NC_000004.12:g.1935221C>T	ExAC,gnomAD
NSD2	O96028	p.Pro545Leu	rs771509829	missense variant	-	NC_000004.12:g.1935222C>T	ExAC,gnomAD
NSD2	O96028	p.Arg546Lys	rs775004764	missense variant	-	NC_000004.12:g.1935225G>A	ExAC,gnomAD
NSD2	O96028	p.Arg548Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1935231G>T	NCI-TCGA
NSD2	O96028	p.Thr551Met	rs146509878	missense variant	-	NC_000004.12:g.1935240C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys553Arg	rs761024107	missense variant	-	NC_000004.12:g.1935246A>G	ExAC,gnomAD
NSD2	O96028	p.His554Gln	rs1273557385	missense variant	-	NC_000004.12:g.1935250C>G	TOPMed,gnomAD
NSD2	O96028	p.Ser555Gly	rs1439497500	missense variant	-	NC_000004.12:g.1935251A>G	gnomAD
NSD2	O96028	p.Leu556Val	rs950240383	missense variant	-	NC_000004.12:g.1935254C>G	TOPMed,gnomAD
NSD2	O96028	p.Arg557Trp	rs1207755212	missense variant	-	NC_000004.12:g.1935257C>T	TOPMed,gnomAD
NSD2	O96028	p.Asp560Glu	rs1434444449	missense variant	-	NC_000004.12:g.1938456C>G	gnomAD
NSD2	O96028	p.Ile562Val	rs1274132193	missense variant	-	NC_000004.12:g.1938460A>G	gnomAD
NSD2	O96028	p.Ile562Ser	rs1370534690	missense variant	-	NC_000004.12:g.1938461T>G	TOPMed
NSD2	O96028	p.Asp564Glu	rs1323423253	missense variant	-	NC_000004.12:g.1938468C>G	TOPMed,gnomAD
NSD2	O96028	p.Lys565Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1938470A>C	NCI-TCGA
NSD2	O96028	p.Thr566Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1938473C>T	NCI-TCGA
NSD2	O96028	p.Ala567Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1938475G>A	NCI-TCGA
NSD2	O96028	p.Thr569Arg	rs967022469	missense variant	-	NC_000004.12:g.1938482C>G	TOPMed
NSD2	O96028	p.Ser570Ile	rs1244974581	missense variant	-	NC_000004.12:g.1938485G>T	gnomAD
NSD2	O96028	p.Ser571Cys	rs763018932	missense variant	-	NC_000004.12:g.1938488C>G	ExAC,gnomAD
NSD2	O96028	p.Ser571Phe	rs763018932	missense variant	-	NC_000004.12:g.1938488C>T	ExAC,gnomAD
NSD2	O96028	p.Tyr572Ser	rs1352496907	missense variant	-	NC_000004.12:g.1938491A>C	gnomAD
NSD2	O96028	p.Lys573Glu	rs538038976	missense variant	-	NC_000004.12:g.1938493A>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys573Thr	rs751314482	missense variant	-	NC_000004.12:g.1938494A>C	ExAC,gnomAD
NSD2	O96028	p.Ala574Thr	rs780953841	missense variant	-	NC_000004.12:g.1938496G>A	ExAC,gnomAD
NSD2	O96028	p.Ala577Thr	rs1195882701	missense variant	-	NC_000004.12:g.1938505G>A	gnomAD
NSD2	O96028	p.Ala578Gly	rs140182983	missense variant	-	NC_000004.12:g.1938509C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala578Val	rs140182983	missense variant	-	NC_000004.12:g.1938509C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser580Leu	rs746362705	missense variant	-	NC_000004.12:g.1938515C>T	ExAC,gnomAD
NSD2	O96028	p.Ala585Thr	rs1371619664	missense variant	-	NC_000004.12:g.1938529G>A	gnomAD
NSD2	O96028	p.Ala586Val	rs1390587603	missense variant	-	NC_000004.12:g.1939654C>T	TOPMed
NSD2	O96028	p.Thr587Arg	rs763851539	missense variant	-	NC_000004.12:g.1939657C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr587Met	rs763851539	missense variant	-	NC_000004.12:g.1939657C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu590Arg	rs539819179	missense variant	-	NC_000004.12:g.1939666T>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Leu590Met	rs570695212	missense variant	-	NC_000004.12:g.1939665C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ala593Thr	COSM1485905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1939674G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Lys599Thr	rs1171689736	missense variant	-	NC_000004.12:g.1939693A>C	gnomAD
NSD2	O96028	p.Arg600Gln	rs1189008609	missense variant	-	NC_000004.12:g.1939696G>A	TOPMed
NSD2	O96028	p.Arg602Trp	COSM1054434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1939701C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Arg602Gln	rs1418871757	missense variant	-	NC_000004.12:g.1939702G>A	gnomAD
NSD2	O96028	p.Ala603Gly	rs748360474	missense variant	-	NC_000004.12:g.1939705C>G	ExAC,gnomAD
NSD2	O96028	p.Thr605Met	rs1213997018	missense variant	-	NC_000004.12:g.1939711C>T	-
NSD2	O96028	p.Thr605Ala	rs769950208	missense variant	-	NC_000004.12:g.1939710A>G	ExAC,gnomAD
NSD2	O96028	p.Ala606Glu	rs1030558419	missense variant	-	NC_000004.12:g.1939714C>A	TOPMed,gnomAD
NSD2	O96028	p.Ala606Val	rs1030558419	missense variant	-	NC_000004.12:g.1939714C>T	TOPMed,gnomAD
NSD2	O96028	p.Ala606Thr	rs1299648042	missense variant	-	NC_000004.12:g.1939713G>A	gnomAD
NSD2	O96028	p.Ala607Val	rs1413976698	missense variant	-	NC_000004.12:g.1939717C>T	gnomAD
NSD2	O96028	p.Ser614Asn	rs767653275	missense variant	-	NC_000004.12:g.1939738G>A	gnomAD
NSD2	O96028	p.Lys615Asn	rs770938820	missense variant	-	NC_000004.12:g.1939742A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser618Cys	rs774325375	missense variant	-	NC_000004.12:g.1939750C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser620Ala	rs759432670	missense variant	-	NC_000004.12:g.1939755T>G	ExAC,gnomAD
NSD2	O96028	p.Thr624Pro	rs1253622631	missense variant	-	NC_000004.12:g.1939767A>C	gnomAD
NSD2	O96028	p.Glu627Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1939778G>T	NCI-TCGA
NSD2	O96028	p.Ser629Pro	rs764506321	missense variant	-	NC_000004.12:g.1951075T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser629Leu	rs144714547	missense variant	-	NC_000004.12:g.1951076C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp630Glu	rs778951564	missense variant	-	NC_000004.12:g.1951080C>G	ExAC
NSD2	O96028	p.Pro632Leu	rs750722330	missense variant	-	NC_000004.12:g.1951085C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp634Asn	rs780346425	missense variant	-	NC_000004.12:g.1951090G>A	ExAC,gnomAD
NSD2	O96028	p.Pro636Arg	rs150312094	missense variant	-	NC_000004.12:g.1951097C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Leu	rs201252361	missense variant	-	NC_000004.12:g.1951100C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Ala	rs781198289	missense variant	-	NC_000004.12:g.1951099T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Pro	rs781198289	missense variant	-	NC_000004.12:g.1951099T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser639Cys	rs1482224235	missense variant	-	NC_000004.12:g.1951106C>G	TOPMed
NSD2	O96028	p.Pro640Leu	rs748981823	missense variant	-	NC_000004.12:g.1951109C>T	ExAC,gnomAD
NSD2	O96028	p.Tyr641Cys	COSM1054435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1951112A>G	NCI-TCGA Cosmic
NSD2	O96028	p.Tyr641His	rs770425230	missense variant	-	NC_000004.12:g.1951111T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu642Lys	COSM278138	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1951114G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Glu642Val	rs759061394	missense variant	-	NC_000004.12:g.1951115A>T	ExAC,gnomAD
NSD2	O96028	p.Glu642Gly	rs759061394	missense variant	-	NC_000004.12:g.1951115A>G	ExAC,gnomAD
NSD2	O96028	p.Glu646Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1951126G>A	NCI-TCGA
NSD2	O96028	p.Val651Leu	rs1383119383	missense variant	-	NC_000004.12:g.1951141G>C	TOPMed
NSD2	O96028	p.Val651Ala	rs1328580847	missense variant	-	NC_000004.12:g.1951142T>C	gnomAD
NSD2	O96028	p.Glu659Gly	rs1398214715	missense variant	-	NC_000004.12:g.1951166A>G	TOPMed
NSD2	O96028	p.Arg660Gln	rs1355063646	missense variant	-	NC_000004.12:g.1951169G>A	gnomAD
NSD2	O96028	p.Gly661Val	rs758747210	missense variant	-	NC_000004.12:g.1951172G>T	ExAC,gnomAD
NSD2	O96028	p.Val662Ala	rs1400681386	missense variant	-	NC_000004.12:g.1951175T>C	TOPMed
NSD2	O96028	p.Ala664Val	rs766717444	missense variant	-	NC_000004.12:g.1951181C>T	ExAC,gnomAD
NSD2	O96028	p.Lys665Arg	rs143388708	missense variant	-	NC_000004.12:g.1951184A>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr668Cys	rs1308986047	missense variant	-	NC_000004.12:g.1951193A>G	TOPMed,gnomAD
NSD2	O96028	p.Val669Met	rs1362563185	missense variant	-	NC_000004.12:g.1951195G>A	TOPMed
NSD2	O96028	p.Leu672Val	rs1448727938	missense variant	-	NC_000004.12:g.1952108C>G	TOPMed
NSD2	O96028	p.Pro676Ser	rs943227424	missense variant	-	NC_000004.12:g.1952120C>T	-
NSD2	O96028	p.Pro676Leu	rs773890550	missense variant	-	NC_000004.12:g.1952121C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser678Asn	rs1277336806	missense variant	-	NC_000004.12:g.1952127G>A	gnomAD
NSD2	O96028	p.Leu679Phe	rs1349584955	missense variant	-	NC_000004.12:g.1952129C>T	gnomAD
NSD2	O96028	p.Leu680Pro	rs774410104	missense variant	-	NC_000004.12:g.1952133T>C	ExAC,gnomAD
NSD2	O96028	p.Cys686Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1952151G>A	NCI-TCGA
NSD2	O96028	p.Ala693Thr	rs760749890	missense variant	-	NC_000004.12:g.1952171G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg699Trp	rs763969166	missense variant	-	NC_000004.12:g.1952189C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly703Arg	rs757015702	missense variant	-	NC_000004.12:g.1952201G>A	ExAC,gnomAD
NSD2	O96028	p.Gly703Val	rs1390978369	missense variant	-	NC_000004.12:g.1952202G>T	gnomAD
NSD2	O96028	p.Glu709Lys	rs369991547	missense variant	-	NC_000004.12:g.1952219G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile714Asn	rs1302175161	missense variant	-	NC_000004.12:g.1953327T>A	gnomAD
NSD2	O96028	p.His715Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1953331C>G	NCI-TCGA
NSD2	O96028	p.His715Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1953330A>T	NCI-TCGA
NSD2	O96028	p.Ser716Pro	rs748174351	missense variant	-	NC_000004.12:g.1953332T>C	ExAC,gnomAD
NSD2	O96028	p.Val719Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1953341G>A	NCI-TCGA
NSD2	O96028	p.Val719Leu	rs200415868	missense variant	-	NC_000004.12:g.1953341G>C	1000Genomes
NSD2	O96028	p.Cys720Tyr	COSM5551337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1953345G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Ser723Arg	rs762870190	missense variant	-	NC_000004.12:g.1953355C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr725Ala	rs1251092560	missense variant	-	NC_000004.12:g.1953359A>G	TOPMed,gnomAD
NSD2	O96028	p.Thr725Ile	rs1201830073	missense variant	-	NC_000004.12:g.1953360C>T	TOPMed
NSD2	O96028	p.Val727Leu	rs766187206	missense variant	-	NC_000004.12:g.1953365G>C	ExAC,gnomAD
NSD2	O96028	p.Arg729Cys	COSM3714781	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1953371C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Arg729Gly	rs1194038054	missense variant	-	NC_000004.12:g.1953371C>G	gnomAD
NSD2	O96028	p.Cys730Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1953374T>C	NCI-TCGA
NSD2	O96028	p.Val731Ala	rs927209802	missense variant	-	NC_000004.12:g.1953378T>C	TOPMed
NSD2	O96028	p.Val731Met	rs370713472	missense variant	-	NC_000004.12:g.1953377G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Thr733Pro	rs1280676418	missense variant	-	NC_000004.12:g.1953383A>C	TOPMed
NSD2	O96028	p.Gln734Lys	rs1235457134	missense variant	-	NC_000004.12:g.1953386C>A	TOPMed
NSD2	O96028	p.Glu741Val	rs1157710629	missense variant	-	NC_000004.12:g.1953408A>T	gnomAD
NSD2	O96028	p.Ala742Ser	rs767239709	missense variant	-	NC_000004.12:g.1953410G>T	ExAC,gnomAD
NSD2	O96028	p.Ala742Gly	rs1458389813	missense variant	-	NC_000004.12:g.1953411C>G	gnomAD
NSD2	O96028	p.Lys746AsnPheSerTerUnk	COSM1429101	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.1953419A>-	NCI-TCGA Cosmic
NSD2	O96028	p.Lys746Ile	rs755618120	missense variant	-	NC_000004.12:g.1953423A>T	ExAC,gnomAD
NSD2	O96028	p.Tyr747Phe	rs1440615250	missense variant	-	NC_000004.12:g.1953426A>T	gnomAD
NSD2	O96028	p.Phe752Ser	rs750927886	missense variant	-	NC_000004.12:g.1953441T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Phe752Leu	rs763576743	missense variant	-	NC_000004.12:g.1953440T>C	ExAC,gnomAD
NSD2	O96028	p.Glu753Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1953443G>C	NCI-TCGA
NSD2	O96028	p.Ser754Arg	rs1306585669	missense variant	-	NC_000004.12:g.1953448C>G	gnomAD
NSD2	O96028	p.Arg755Gln	COSM1054436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1953450G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Gly756Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1953452G>T	NCI-TCGA
NSD2	O96028	p.Arg758Ser	rs1329886619	missense variant	-	NC_000004.12:g.1953458C>A	gnomAD
NSD2	O96028	p.Pro760Ala	rs952088696	missense variant	-	NC_000004.12:g.1953464C>G	TOPMed
NSD2	O96028	p.Leu761Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1953467C>T	NCI-TCGA
NSD2	O96028	p.Leu761ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1953462_1953463insC	NCI-TCGA
NSD2	O96028	p.Ser766Asn	rs1222020519	missense variant	-	NC_000004.12:g.1953483G>A	gnomAD
NSD2	O96028	p.Ser766Thr	rs1222020519	missense variant	-	NC_000004.12:g.1953483G>C	gnomAD
NSD2	O96028	p.Ala769Thr	rs991357362	missense variant	-	NC_000004.12:g.1953491G>A	TOPMed
NSD2	O96028	p.Pro772Ser	rs781367586	missense variant	-	NC_000004.12:g.1953500C>T	ExAC,gnomAD
NSD2	O96028	p.Asn774Tyr	rs748411778	missense variant	-	NC_000004.12:g.1953506A>T	ExAC,gnomAD
NSD2	O96028	p.Pro775Thr	rs540859268	missense variant	-	NC_000004.12:g.1953509C>A	gnomAD
NSD2	O96028	p.Pro775Ser	rs540859268	missense variant	-	NC_000004.12:g.1953509C>T	gnomAD
NSD2	O96028	p.Pro777Ser	rs562252470	missense variant	-	NC_000004.12:g.1953515C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro777Ala	rs562252470	missense variant	-	NC_000004.12:g.1953515C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro777Leu	rs1192456885	missense variant	-	NC_000004.12:g.1953516C>T	TOPMed
NSD2	O96028	p.Ser778Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.1953519C>G	NCI-TCGA
NSD2	O96028	p.Ser778Leu	rs374024971	missense variant	-	NC_000004.12:g.1953519C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg784Gln	rs1239708011	missense variant	-	NC_000004.12:g.1955173G>A	gnomAD
NSD2	O96028	p.Val786Ile	rs548145434	missense variant	-	NC_000004.12:g.1955178G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val790Ile	rs761204359	missense variant	-	NC_000004.12:g.1955190G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr792Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1955197A>G	NCI-TCGA
NSD2	O96028	p.Tyr792Phe	rs752059206	missense variant	-	NC_000004.12:g.1955197A>T	ExAC,gnomAD
NSD2	O96028	p.His793Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1955200A>G	NCI-TCGA
NSD2	O96028	p.Ser794Gly	rs760095870	missense variant	-	NC_000004.12:g.1955202A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly795Arg	rs1190376594	missense variant	-	NC_000004.12:g.1955205G>A	TOPMed
NSD2	O96028	p.Ala797Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1955212C>T	NCI-TCGA
NSD2	O96028	p.Val805Ala	rs144335923	missense variant	-	NC_000004.12:g.1955236T>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val805Ala	RCV000261891	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1955236T>C	ClinVar
NSD2	O96028	p.Ala807Thr	rs143360610	missense variant	-	NC_000004.12:g.1955241G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser808Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1955245C>T	NCI-TCGA
NSD2	O96028	p.Ser808Cys	rs757383616	missense variant	-	NC_000004.12:g.1955245C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asn809Ser	rs1220682081	missense variant	-	NC_000004.12:g.1955248A>G	TOPMed
NSD2	O96028	p.Ile812Val	rs1445749183	missense variant	-	NC_000004.12:g.1955256A>G	gnomAD
NSD2	O96028	p.Thr818Ala	rs779189829	missense variant	-	NC_000004.12:g.1955274A>G	ExAC,gnomAD
NSD2	O96028	p.Arg820Gln	rs758343111	missense variant	-	NC_000004.12:g.1955281G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg820Trp	rs745957331	missense variant	-	NC_000004.12:g.1955280C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys821Gln	rs980280785	missense variant	-	NC_000004.12:g.1955283A>C	TOPMed
NSD2	O96028	p.Lys823Arg	rs1435819330	missense variant	-	NC_000004.12:g.1955290A>G	gnomAD
NSD2	O96028	p.His825Pro	COSM3775757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1955296A>C	NCI-TCGA Cosmic
NSD2	O96028	p.His825Gln	rs748922675	missense variant	-	NC_000004.12:g.1955297C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His826Leu	rs1478502518	missense variant	-	NC_000004.12:g.1955299A>T	gnomAD
NSD2	O96028	p.Ala827Val	rs747861024	missense variant	-	NC_000004.12:g.1955302C>T	ExAC,gnomAD
NSD2	O96028	p.Ala827Thr	rs776114283	missense variant	-	NC_000004.12:g.1955301G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val829Ile	rs146318719	missense variant	-	NC_000004.12:g.1955307G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Val831Met	COSM5060295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1955313G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Ser832Asn	rs1170253779	missense variant	-	NC_000004.12:g.1955317G>A	TOPMed
NSD2	O96028	p.Val836Met	rs139637100	missense variant	-	NC_000004.12:g.1955328G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val836Leu	rs139637100	missense variant	-	NC_000004.12:g.1955328G>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys839Glu	rs757494380	missense variant	-	NC_000004.12:g.1955337A>G	ExAC,gnomAD
NSD2	O96028	p.Ile860Phe	rs1337213459	missense variant	-	NC_000004.12:g.1955752A>T	TOPMed,gnomAD
NSD2	O96028	p.Glu861Gly	rs1309496969	missense variant	-	NC_000004.12:g.1955756A>G	gnomAD
NSD2	O96028	p.Glu861Lys	rs1422388271	missense variant	-	NC_000004.12:g.1955755G>A	TOPMed
NSD2	O96028	p.Met862Thr	rs1352976948	missense variant	-	NC_000004.12:g.1955759T>C	TOPMed,gnomAD
NSD2	O96028	p.Asp864Asn	rs748981703	missense variant	-	NC_000004.12:g.1955764G>A	ExAC,gnomAD
NSD2	O96028	p.Gly865Cys	COSM6100212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1955767G>T	NCI-TCGA Cosmic
NSD2	O96028	p.Gly865Ser	rs1281027436	missense variant	-	NC_000004.12:g.1955767G>A	gnomAD
NSD2	O96028	p.Ser866Ile	rs377249050	missense variant	-	NC_000004.12:g.1955771G>T	ESP,ExAC,gnomAD
NSD2	O96028	p.Cys869Arg	rs1553876452	missense variant	-	NC_000004.12:g.1955779T>C	-
NSD2	O96028	p.Cys869Arg	RCV000622646	missense variant	Inborn genetic diseases	NC_000004.12:g.1955779T>C	ClinVar
NSD2	O96028	p.Asn870Ser	rs1268825335	missense variant	-	NC_000004.12:g.1955783A>G	gnomAD
NSD2	O96028	p.Cys872Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1955789G>A	NCI-TCGA
NSD2	O96028	p.Arg873Lys	rs1341691783	missense variant	-	NC_000004.12:g.1955792G>A	gnomAD
NSD2	O96028	p.His879Arg	rs1485302063	missense variant	-	NC_000004.12:g.1955810A>G	gnomAD
NSD2	O96028	p.Phe880Tyr	rs777295950	missense variant	-	NC_000004.12:g.1955813T>A	ExAC,gnomAD
NSD2	O96028	p.Phe880Leu	rs1484701021	missense variant	-	NC_000004.12:g.1955814C>G	gnomAD
NSD2	O96028	p.Ile883Thr	rs762245596	missense variant	-	NC_000004.12:g.1955822T>C	ExAC,gnomAD
NSD2	O96028	p.Ile884Val	rs369572952	missense variant	-	NC_000004.12:g.1955824A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr891Cys	COSM1309968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1955846A>G	NCI-TCGA Cosmic
NSD2	O96028	p.His900Arg	COSM4927047	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1956006A>G	NCI-TCGA Cosmic
NSD2	O96028	p.Pro906Leu	rs145631870	missense variant	-	NC_000004.12:g.1956024C>T	ESP,ExAC,TOPMed
NSD2	O96028	p.Asn907Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1956026A>G	NCI-TCGA
NSD2	O96028	p.Ile915Val	rs1432275472	missense variant	-	NC_000004.12:g.1956050A>G	gnomAD
NSD2	O96028	p.Glu917Ter	COSM1054441	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.1956056G>T	NCI-TCGA Cosmic
NSD2	O96028	p.Pro919Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1956062C>T	NCI-TCGA
NSD2	O96028	p.Phe922Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1956072T>G	NCI-TCGA
NSD2	O96028	p.Lys926Gln	rs1257240726	missense variant	-	NC_000004.12:g.1956083A>C	TOPMed
NSD2	O96028	p.Thr931Met	rs767627490	missense variant	-	NC_000004.12:g.1956099C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His932Tyr	rs760665991	missense variant	-	NC_000004.12:g.1956101C>T	ExAC,gnomAD
NSD2	O96028	p.Ala934Val	rs1388626156	missense variant	-	NC_000004.12:g.1956108C>T	gnomAD
NSD2	O96028	p.Arg935Ter	COSM4124005	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.1956110C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Pro938Ser	COSM3602827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1956119C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Pro938Leu	rs200311175	missense variant	-	NC_000004.12:g.1956120C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Met940Arg	rs764917391	missense variant	-	NC_000004.12:g.1956126T>G	ExAC,gnomAD
NSD2	O96028	p.Met940Val	rs1313958361	missense variant	-	NC_000004.12:g.1956125A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu941Gly	rs750083545	missense variant	-	NC_000004.12:g.1956129A>G	ExAC
NSD2	O96028	p.Glu941Asp	rs1329849826	missense variant	-	NC_000004.12:g.1956130G>T	TOPMed,gnomAD
NSD2	O96028	p.Gly942Arg	COSM3917612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1956131G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Gly942Trp	COSM4915142	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1956131G>T	NCI-TCGA Cosmic
NSD2	O96028	p.Asp943Ala	rs757920884	missense variant	-	NC_000004.12:g.1956135A>C	ExAC,gnomAD
NSD2	O96028	p.Asp943Gly	rs757920884	missense variant	-	NC_000004.12:g.1956135A>G	ExAC,gnomAD
NSD2	O96028	p.Arg944Gly	rs746529986	missense variant	-	NC_000004.12:g.1956137C>G	ExAC,gnomAD
NSD2	O96028	p.Arg944Gln	RCV000371835	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1956138G>A	ClinVar
NSD2	O96028	p.Arg944Gln	rs756624618	missense variant	-	NC_000004.12:g.1956138G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg944Leu	rs756624618	missense variant	-	NC_000004.12:g.1956138G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly945Arg	rs749617066	missense variant	-	NC_000004.12:g.1956140G>C	ExAC,gnomAD
NSD2	O96028	p.Gly945Ala	rs771249310	missense variant	-	NC_000004.12:g.1956141G>C	ExAC
NSD2	O96028	p.Arg947His	rs1157864395	missense variant	-	NC_000004.12:g.1956147G>A	gnomAD
NSD2	O96028	p.Arg947Cys	rs943974282	missense variant	-	NC_000004.12:g.1956146C>T	gnomAD
NSD2	O96028	p.Gly950Arg	rs1428724943	missense variant	-	NC_000004.12:g.1956155G>C	TOPMed
NSD2	O96028	p.Gly950Ala	rs1411838742	missense variant	-	NC_000004.12:g.1956156G>C	gnomAD
NSD2	O96028	p.Gly955Arg	rs934745655	missense variant	-	NC_000004.12:g.1956170G>A	gnomAD
NSD2	O96028	p.Lys959Arg	rs772127940	missense variant	-	NC_000004.12:g.1956183A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asn960His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1956185A>C	NCI-TCGA
NSD2	O96028	p.Ala961Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1956188G>T	NCI-TCGA
NSD2	O96028	p.Gln963His	rs137974842	missense variant	-	NC_000004.12:g.1957940A>T	ESP,TOPMed,gnomAD
NSD2	O96028	p.Ala965Thr	rs779205776	missense variant	-	NC_000004.12:g.1957944G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala967Thr	rs746260679	missense variant	-	NC_000004.12:g.1957950G>A	ExAC,gnomAD
NSD2	O96028	p.Arg968His	RCV000623054	missense variant	Inborn genetic diseases	NC_000004.12:g.1957954G>A	ClinVar
NSD2	O96028	p.Arg968His	rs1553876858	missense variant	-	NC_000004.12:g.1957954G>A	-
NSD2	O96028	p.Arg970His	rs780274468	missense variant	-	NC_000004.12:g.1957960G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg970Cys	rs772239992	missense variant	-	NC_000004.12:g.1957959C>T	ExAC,gnomAD
NSD2	O96028	p.Arg976Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1957978G>T	NCI-TCGA
NSD2	O96028	p.Glu977Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1957980G>A	NCI-TCGA
NSD2	O96028	p.Glu977Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1957981A>G	NCI-TCGA
NSD2	O96028	p.Arg979Ter	rs548600548	stop gained	-	NC_000004.12:g.1957986C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Gln982Glu	rs1472780335	missense variant	-	NC_000004.12:g.1957995C>G	gnomAD
NSD2	O96028	p.Glu985Lys	rs1416347752	missense variant	-	NC_000004.12:g.1958004G>A	gnomAD
NSD2	O96028	p.Arg986His	COSM3132336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1958008G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Pro989Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1958016C>T	NCI-TCGA
NSD2	O96028	p.Pro989HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1958013C>-	NCI-TCGA
NSD2	O96028	p.Pro989Leu	rs1286095958	missense variant	-	NC_000004.12:g.1958017C>T	TOPMed
NSD2	O96028	p.Ile994Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1958033C>G	NCI-TCGA
NSD2	O96028	p.Lys998Glu	rs1309075149	missense variant	-	NC_000004.12:g.1959477A>G	gnomAD
NSD2	O96028	p.Pro999Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1959480C>T	NCI-TCGA
NSD2	O96028	p.Tyr1000His	rs1291181242	missense variant	-	NC_000004.12:g.1959483T>C	TOPMed
NSD2	O96028	p.Val1003AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1959492_1959493insC	NCI-TCGA
NSD2	O96028	p.Gln1004Glu	rs1344700826	missense variant	-	NC_000004.12:g.1959495C>G	TOPMed
NSD2	O96028	p.Ile1005Leu	rs1018801461	missense variant	-	NC_000004.12:g.1959498A>C	TOPMed
NSD2	O96028	p.Tyr1006His	rs142100377	missense variant	-	NC_000004.12:g.1959501T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr1007Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1959504A>G	NCI-TCGA
NSD2	O96028	p.Ala1008Gly	rs758754683	missense variant	-	NC_000004.12:g.1959508C>G	ExAC,gnomAD
NSD2	O96028	p.Ala1008Val	rs758754683	missense variant	-	NC_000004.12:g.1959508C>T	ExAC,gnomAD
NSD2	O96028	p.Ser1011Leu	COSM5975082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1959517C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Pro1014Ala	rs972287878	missense variant	-	NC_000004.12:g.1959525C>G	TOPMed
NSD2	O96028	p.Cys1018Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1959537T>G	NCI-TCGA
NSD2	O96028	p.Thr1021Ala	rs1272076193	missense variant	-	NC_000004.12:g.1959546A>G	TOPMed,gnomAD
NSD2	O96028	p.Asp1029Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1959568_1959569insC	NCI-TCGA
NSD2	O96028	p.Ser1030Ala	rs1409623677	missense variant	-	NC_000004.12:g.1959573T>G	gnomAD
NSD2	O96028	p.Glu1031Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1959576G>C	NCI-TCGA
NSD2	O96028	p.Pro1043Ala	rs1322396712	missense variant	-	NC_000004.12:g.1959612C>G	gnomAD
NSD2	O96028	p.Ala1048Val	rs745664737	missense variant	-	NC_000004.12:g.1959628C>T	ExAC,gnomAD
NSD2	O96028	p.Ala1048Thr	rs774234132	missense variant	-	NC_000004.12:g.1959627G>A	ExAC,gnomAD
NSD2	O96028	p.Glu1050Lys	rs1047838051	missense variant	-	NC_000004.12:g.1959633G>A	TOPMed,gnomAD
NSD2	O96028	p.Phe1051Tyr	rs1213391191	missense variant	-	NC_000004.12:g.1959637T>A	TOPMed
NSD2	O96028	p.Gln1061Arg	rs763723156	missense variant	-	NC_000004.12:g.1959667A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1064Asp	COSM1054443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1959677G>T	NCI-TCGA Cosmic
NSD2	O96028	p.Lys1066Arg	rs773691968	missense variant	-	NC_000004.12:g.1959682A>G	ExAC,gnomAD
NSD2	O96028	p.Ile1068Thr	rs1420145115	missense variant	-	NC_000004.12:g.1959688T>C	TOPMed,gnomAD
NSD2	O96028	p.Ala1079Thr	rs771867435	missense variant	-	NC_000004.12:g.1959720G>A	ExAC,gnomAD
NSD2	O96028	p.Ala1079Gly	rs1374595557	missense variant	-	NC_000004.12:g.1959721C>G	TOPMed
NSD2	O96028	p.Lys1080Arg	rs1162500705	missense variant	-	NC_000004.12:g.1959724A>G	gnomAD
NSD2	O96028	p.Arg1081Ser	rs756144891	missense variant	-	NC_000004.12:g.1959728G>T	ExAC,gnomAD
NSD2	O96028	p.Arg1084Thr	rs924346177	missense variant	-	NC_000004.12:g.1959736G>C	TOPMed
NSD2	O96028	p.Lys1085Asn	rs778057489	missense variant	-	NC_000004.12:g.1959740G>T	ExAC,gnomAD
NSD2	O96028	p.Glu1087Val	rs1256794829	missense variant	-	NC_000004.12:g.1961039A>T	gnomAD
NSD2	O96028	p.Val1093Ile	rs1440755101	missense variant	-	NC_000004.12:g.1961056G>A	TOPMed
NSD2	O96028	p.Asp1098Asn	rs1255636324	missense variant	-	NC_000004.12:g.1961071G>A	TOPMed
NSD2	O96028	p.Glu1099Lys	rs772470710	missense variant	-	NC_000004.12:g.1961074G>A	ExAC,gnomAD
NSD2	O96028	p.Ala1104Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1961090C>T	NCI-TCGA
NSD2	O96028	p.Ile1106Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1961097C>G	NCI-TCGA
NSD2	O96028	p.His1110Gln	rs754150618	missense variant	-	NC_000004.12:g.1961109C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp1113Asn	rs750479519	missense variant	-	NC_000004.12:g.1961116G>A	ExAC,gnomAD
NSD2	O96028	p.His1116Tyr	rs1295039148	missense variant	-	NC_000004.12:g.1961125C>T	TOPMed
NSD2	O96028	p.Ile1122Val	rs751318500	missense variant	-	NC_000004.12:g.1961143A>G	ExAC,gnomAD
NSD2	O96028	p.Arg1126His	COSM3674156	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974867G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Ile1127Val	COSM1429106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974869A>G	NCI-TCGA Cosmic
NSD2	O96028	p.Gly1131Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1974882G>A	NCI-TCGA
NSD2	O96028	p.Pro1132Thr	COSM4124011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974884C>A	NCI-TCGA Cosmic
NSD2	O96028	p.Pro1132Arg	rs778377665	missense variant	-	NC_000004.12:g.1974885C>G	ExAC,gnomAD
NSD2	O96028	p.Gly1134Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1974890G>A	NCI-TCGA
NSD2	O96028	p.Ser1143Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1974919C>A	NCI-TCGA
NSD2	O96028	p.Leu1151Phe	rs1251315025	missense variant	-	NC_000004.12:g.1974941C>T	TOPMed
NSD2	O96028	p.Val1155Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1974953G>A	NCI-TCGA
NSD2	O96028	p.Arg1160His	COSM3781150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974969G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Arg1160Cys	rs1380951165	missense variant	-	NC_000004.12:g.1974968C>T	gnomAD
NSD2	O96028	p.Val1166Ile	rs375277590	missense variant	-	NC_000004.12:g.1974986G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp1168Asn	COSM447713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974992G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Asp1168His	rs1460279946	missense variant	-	NC_000004.12:g.1974992G>C	TOPMed
NSD2	O96028	p.Ala1171Glu	rs769777776	missense variant	-	NC_000004.12:g.1975002C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1172Glu	rs770661384	missense variant	-	NC_000004.12:g.1975294G>A	ExAC,gnomAD
NSD2	O96028	p.Thr1173Met	rs201530243	missense variant	-	NC_000004.12:g.1975297C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr1173Ser	rs1285311675	missense variant	-	NC_000004.12:g.1975296A>T	TOPMed
NSD2	O96028	p.Thr1173Arg	rs201530243	missense variant	-	NC_000004.12:g.1975297C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1187Asp	rs1384015236	missense variant	-	NC_000004.12:g.1975340A>C	TOPMed,gnomAD
NSD2	O96028	p.Thr1189Met	rs758809828	missense variant	-	NC_000004.12:g.1975345C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val1190Leu	COSM3993611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1975347G>C	NCI-TCGA Cosmic
NSD2	O96028	p.Cys1191Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1975351G>A	NCI-TCGA
NSD2	O96028	p.Arg1192Trp	rs751874982	missense variant	-	NC_000004.12:g.1975353C>T	ExAC,gnomAD
NSD2	O96028	p.Asp1204Gly	COSM4124013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1975390A>G	NCI-TCGA Cosmic
NSD2	O96028	p.Thr1208Ile	rs1264602948	missense variant	-	NC_000004.12:g.1976476C>T	gnomAD
NSD2	O96028	p.Ser1209Leu	rs777823476	missense variant	-	NC_000004.12:g.1976479C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1210Met	rs756992765	missense variant	-	NC_000004.12:g.1976482C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1211Asn	rs878870013	missense variant	-	NC_000004.12:g.1976485C>A	gnomAD
NSD2	O96028	p.Thr1211Ser	rs778715134	missense variant	-	NC_000004.12:g.1976484A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu1212Val	rs945268423	missense variant	-	NC_000004.12:g.1976487C>G	TOPMed
NSD2	O96028	p.Glu1215Asp	rs1416610820	missense variant	-	NC_000004.12:g.1976498G>C	TOPMed
NSD2	O96028	p.Glu1216Lys	rs1423726760	missense variant	-	NC_000004.12:g.1976499G>A	TOPMed
NSD2	O96028	p.Glu1216Gly	rs1290861908	missense variant	-	NC_000004.12:g.1976500A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1216Val	rs1290861908	missense variant	-	NC_000004.12:g.1976500A>T	TOPMed,gnomAD
NSD2	O96028	p.Lys1217Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1976502A>C	NCI-TCGA
NSD2	O96028	p.Lys1220ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1976508A>-	NCI-TCGA
NSD2	O96028	p.Lys1220Met	rs746488285	missense variant	-	NC_000004.12:g.1976512A>T	ExAC,gnomAD
NSD2	O96028	p.Thr1221Ile	rs144327097	missense variant	-	NC_000004.12:g.1976515C>T	ESP,ExAC,gnomAD
NSD2	O96028	p.Thr1225Met	rs754405808	missense variant	-	NC_000004.12:g.1976527C>T	TOPMed
NSD2	O96028	p.Arg1227Trp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1976532C>T	NCI-TCGA
NSD2	O96028	p.Arg1228His	COSM1054445	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1976536G>A	NCI-TCGA Cosmic
NSD2	O96028	p.Arg1228Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1976535C>T	NCI-TCGA
NSD2	O96028	p.Gly1232Arg	rs1256308174	missense variant	-	NC_000004.12:g.1976547G>A	TOPMed
NSD2	O96028	p.Glu1233Lys	rs1305960757	missense variant	-	NC_000004.12:g.1976550G>A	gnomAD
NSD2	O96028	p.Gly1234Arg	rs1317326083	missense variant	-	NC_000004.12:g.1976553G>A	gnomAD
NSD2	O96028	p.Gly1234Glu	rs773694055	missense variant	-	NC_000004.12:g.1976554G>A	ExAC,gnomAD
NSD2	O96028	p.Gln1237Arg	rs763391838	missense variant	-	NC_000004.12:g.1976563A>G	ExAC,gnomAD
NSD2	O96028	p.Glu1241Lys	rs774737951	missense variant	-	NC_000004.12:g.1976574G>A	ExAC,gnomAD
NSD2	O96028	p.Glu1241Gln	rs774737951	missense variant	-	NC_000004.12:g.1976574G>C	ExAC,gnomAD
NSD2	O96028	p.Arg1244His	rs1420066426	missense variant	-	NC_000004.12:g.1976584G>A	gnomAD
NSD2	O96028	p.Arg1244Cys	rs376629334	missense variant	-	NC_000004.12:g.1976583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1246Ser	rs1424067803	missense variant	-	NC_000004.12:g.1976589G>A	gnomAD
NSD2	O96028	p.Gly1249Arg	rs1367549846	missense variant	-	NC_000004.12:g.1976598G>A	gnomAD
NSD2	O96028	p.Gly1249Glu	rs1439876719	missense variant	-	NC_000004.12:g.1976599G>A	gnomAD
NSD2	O96028	p.Arg1256His	rs901340615	missense variant	-	NC_000004.12:g.1976620G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1262Val	rs1467938486	missense variant	-	NC_000004.12:g.1976638C>T	TOPMed
NSD2	O96028	p.Ser1266Cys	rs779674908	missense variant	-	NC_000004.12:g.1976650C>G	ExAC,gnomAD
NSD2	O96028	p.Arg1273Gln	rs1166649020	missense variant	-	NC_000004.12:g.1976671G>A	TOPMed,gnomAD
NSD2	O96028	p.Pro1274Leu	rs1251301694	missense variant	-	NC_000004.12:g.1976674C>T	TOPMed,gnomAD
NSD2	O96028	p.Phe1275Ile	rs1457835886	missense variant	-	NC_000004.12:g.1976676T>A	TOPMed
NSD2	O96028	p.Lys1277Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1978641A>T	NCI-TCGA
NSD2	O96028	p.Glu1279Asp	rs146059943	missense variant	-	NC_000004.12:g.1978648A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1281His	COSM1429108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978653C>A	NCI-TCGA Cosmic
NSD2	O96028	p.Pro1291Leu	rs768972964	missense variant	-	NC_000004.12:g.1978683C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1292Leu	COSM420623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978686C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Ser1292PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1978681_1978682insC	NCI-TCGA
NSD2	O96028	p.Ser1294Leu	rs761945829	missense variant	-	NC_000004.12:g.1978692C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu1298Ile	COSM4124017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978703C>A	NCI-TCGA Cosmic
NSD2	O96028	p.Leu1298Phe	rs1035199365	missense variant	-	NC_000004.12:g.1978703C>T	gnomAD
NSD2	O96028	p.Leu1298Val	rs1035199365	missense variant	-	NC_000004.12:g.1978703C>G	gnomAD
NSD2	O96028	p.Pro1300Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1978709C>A	NCI-TCGA
NSD2	O96028	p.Asn1301Ser	rs751306053	missense variant	-	NC_000004.12:g.1978713A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1302Leu	COSM1429109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978716C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Phe1303Leu	rs767126550	missense variant	-	NC_000004.12:g.1978720C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1305Glu	rs1232165839	missense variant	-	NC_000004.12:g.1978724A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1306Gln	rs1346394191	missense variant	-	NC_000004.12:g.1978727G>C	gnomAD
NSD2	O96028	p.Gln1308His	rs752348506	missense variant	-	NC_000004.12:g.1978735G>C	ExAC,gnomAD
NSD2	O96028	p.Asp1309His	rs755643031	missense variant	-	NC_000004.12:g.1978736G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1310Glu	rs777078587	missense variant	-	NC_000004.12:g.1978740G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr1311Ile	COSM481151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978743C>T	NCI-TCGA Cosmic
NSD2	O96028	p.Thr1311Ala	rs142278631	missense variant	-	NC_000004.12:g.1978742A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1312Thr	rs515582	missense variant	-	NC_000004.12:g.1978745G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1312Val	rs780733114	missense variant	-	NC_000004.12:g.1978746C>T	ExAC,gnomAD
NSD2	O96028	p.Ala1312Ser	rs515582	missense variant	-	NC_000004.12:g.1978745G>T	TOPMed,gnomAD
NSD2	O96028	p.Phe1313Leu	rs1220405765	missense variant	-	NC_000004.12:g.1978748T>C	gnomAD
NSD2	O96028	p.Ser1314Arg	rs1418175764	missense variant	-	NC_000004.12:g.1978751A>C	TOPMed,gnomAD
NSD2	O96028	p.Ser1314Gly	rs1418175764	missense variant	-	NC_000004.12:g.1978751A>G	TOPMed,gnomAD
NSD2	O96028	p.Thr1316Ser	rs1268072056	missense variant	-	NC_000004.12:g.1978758C>G	gnomAD
NSD2	O96028	p.Pro1317ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.1978758C>-	NCI-TCGA
NSD2	O96028	p.Pro1317Arg	rs769203933	missense variant	-	NC_000004.12:g.1978761C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1317Leu	rs769203933	missense variant	-	NC_000004.12:g.1978761C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1319Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1978766G>A	NCI-TCGA
NSD2	O96028	p.Arg1320Trp	rs151213547	missense variant	-	NC_000004.12:g.1978769C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1320Gln	rs773117985	missense variant	-	NC_000004.12:g.1978770G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1321Pro	rs763053114	missense variant	-	NC_000004.12:g.1978772T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1321Phe	rs951676878	missense variant	-	NC_000004.12:g.1978773C>T	gnomAD
NSD2	O96028	p.Cys1323Arg	COSM4124021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978778T>C	NCI-TCGA Cosmic
NSD2	O96028	p.Cys1323Ser	rs759312671	missense variant	-	NC_000004.12:g.1978779G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Cys1323Tyr	rs759312671	missense variant	-	NC_000004.12:g.1978779G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1325Gly	rs985805727	missense variant	-	NC_000004.12:g.1978785A>G	gnomAD
NSD2	O96028	p.His1326Gln	rs752539028	missense variant	-	NC_000004.12:g.1978789T>G	ExAC,gnomAD
NSD2	O96028	p.His1326Tyr	rs1280330106	missense variant	-	NC_000004.12:g.1978787C>T	gnomAD
NSD2	O96028	p.Asp1327His	rs1244088714	missense variant	-	NC_000004.12:g.1978790G>C	gnomAD
NSD2	O96028	p.Asp1327Glu	rs1291087144	missense variant	-	NC_000004.12:g.1978792C>G	TOPMed,gnomAD
NSD2	O96028	p.Gly1329Ala	rs1161045853	missense variant	-	NC_000004.12:g.1978797G>C	TOPMed,gnomAD
NSD2	O96028	p.Gly1329Glu	rs1161045853	missense variant	-	NC_000004.12:g.1978797G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1330Val	rs760185069	missense variant	-	NC_000004.12:g.1978800C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1330Thr	rs965788333	missense variant	-	NC_000004.12:g.1978799G>A	TOPMed
NSD2	O96028	p.Ala1331Val	rs200615147	missense variant	-	NC_000004.12:g.1978803C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1332Leu	rs561070783	missense variant	-	NC_000004.12:g.1978806C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val1333Ala	rs755548968	missense variant	-	NC_000004.12:g.1978809T>C	ExAC,gnomAD
NSD2	O96028	p.Arg1334Gly	rs1459045548	missense variant	-	NC_000004.12:g.1978811A>G	TOPMed,gnomAD
NSD2	O96028	p.Ser1335Arg	rs934528153	missense variant	-	NC_000004.12:g.1978816C>G	gnomAD
NSD2	O96028	p.Thr1336Ser	rs769868346	missense variant	-	NC_000004.12:g.1978818C>G	ExAC,gnomAD
NSD2	O96028	p.Thr1336Ile	rs769868346	missense variant	-	NC_000004.12:g.1978818C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1336Pro	rs139213191	missense variant	-	NC_000004.12:g.1978817A>C	ESP,ExAC
NSD2	O96028	p.Thr1338Ala	rs998624369	missense variant	-	NC_000004.12:g.1978823A>G	TOPMed,gnomAD
NSD2	O96028	p.Thr1338Ile	rs1033243246	missense variant	-	NC_000004.12:g.1978824C>T	TOPMed
NSD2	O96028	p.Glu1339Lys	rs749348112	missense variant	-	NC_000004.12:g.1978826G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1340Asn	rs199956960	missense variant	-	NC_000004.12:g.1978831G>T	ESP,ExAC,TOPMed
NSD2	O96028	p.Lys1340Asn	rs199956960	missense variant	-	NC_000004.12:g.1978831G>C	ESP,ExAC,TOPMed
NSD2	O96028	p.Pro1341Thr	rs914518920	missense variant	-	NC_000004.12:g.1978832C>A	TOPMed,gnomAD
NSD2	O96028	p.Pro1341Ala	rs914518920	missense variant	-	NC_000004.12:g.1978832C>G	TOPMed,gnomAD
NSD2	O96028	p.Pro1341Arg	rs774265779	missense variant	-	NC_000004.12:g.1978833C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1341Leu	rs774265779	missense variant	-	NC_000004.12:g.1978833C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1341His	rs774265779	missense variant	-	NC_000004.12:g.1978833C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Arg	rs201619712	missense variant	-	NC_000004.12:g.1978836C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Leu	rs201619712	missense variant	-	NC_000004.12:g.1978836C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Thr	rs535066596	missense variant	-	NC_000004.12:g.1978835C>A	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342His	rs201619712	missense variant	-	NC_000004.12:g.1978836C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Ser	rs535066596	missense variant	-	NC_000004.12:g.1978835C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Arg	rs368799821	missense variant	-	NC_000004.12:g.1978839C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Leu	rs368799821	missense variant	-	NC_000004.12:g.1978839C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Gln	rs368799821	missense variant	-	NC_000004.12:g.1978839C>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Ala	rs142054662	missense variant	-	NC_000004.12:g.1978838C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Ser	rs142054662	missense variant	-	NC_000004.12:g.1978838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Thr	rs142054662	missense variant	-	NC_000004.12:g.1978838C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343GlnPheSerTerUnkUnk	rs755520256	frameshift	-	NC_000004.12:g.1978832C>-	NCI-TCGA,NCI-TCGA Cosmic
NSD2	O96028	p.Glu1344Gly	rs552288309	missense variant	-	NC_000004.12:g.1978842A>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Glu1344Lys	rs950025435	missense variant	-	NC_000004.12:g.1978841G>A	TOPMed,gnomAD
NSD2	O96028	p.Glu1344ArgPheSerTerUnkUnk	rs752037034	frameshift	-	NC_000004.12:g.1978831_1978832insC	NCI-TCGA,NCI-TCGA Cosmic
NSD2	O96028	p.Pro1345Ala	rs745966514	missense variant	-	NC_000004.12:g.1978844C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1345Ser	rs745966514	missense variant	-	NC_000004.12:g.1978844C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1347Asn	rs1172013755	missense variant	-	NC_000004.12:g.1978852G>C	gnomAD
NSD2	O96028	p.Pro1348Leu	rs370127436	missense variant	-	NC_000004.12:g.1978854C>T	ESP,TOPMed
NSD2	O96028	p.Lys1349Met	rs775533504	missense variant	-	NC_000004.12:g.1978857A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1349Asn	rs746770939	missense variant	-	NC_000004.12:g.1978858G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1351Thr	rs569412351	missense variant	-	NC_000004.12:g.1978863A>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1351Met	rs569412351	missense variant	-	NC_000004.12:g.1978863A>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1353Trp	rs761501519	missense variant	-	NC_000004.12:g.1978868C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1353Gln	rs1379056879	missense variant	-	NC_000004.12:g.1978869G>A	TOPMed
NSD2	O96028	p.Arg1354Gln	rs903302389	missense variant	-	NC_000004.12:g.1978872G>A	TOPMed,gnomAD
NSD2	O96028	p.Arg1355Trp	rs201148179	missense variant	-	NC_000004.12:g.1978874C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1355Pro	rs1280034307	missense variant	-	NC_000004.12:g.1978875G>C	TOPMed,gnomAD
NSD2	O96028	p.Arg1355Gln	rs1280034307	missense variant	-	NC_000004.12:g.1978875G>A	TOPMed,gnomAD
NSD2	O96028	p.Arg1356Lys	rs762564946	missense variant	-	NC_000004.12:g.1978878G>A	ExAC,gnomAD
NSD2	O96028	p.Gly1357Ser	rs767888998	missense variant	-	NC_000004.12:g.1978880G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1357Ala	rs753305456	missense variant	-	NC_000004.12:g.1978881G>C	ExAC,gnomAD
NSD2	O96028	p.Gly1357Asp	rs753305456	missense variant	-	NC_000004.12:g.1978881G>A	ExAC,gnomAD
NSD2	O96028	p.Trp1358Arg	COSM1054448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978883T>C	NCI-TCGA Cosmic
NSD2	O96028	p.Trp1358Ter	rs1553881444	stop gained	-	NC_000004.12:g.1978885G>A	-
NSD2	O96028	p.Trp1358Ter	RCV000500590	nonsense	-	NC_000004.12:g.1978885G>A	ClinVar
NSD2	O96028	p.Arg1359Gly	rs764374372	missense variant	-	NC_000004.12:g.1978886C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1359Trp	rs764374372	missense variant	-	NC_000004.12:g.1978886C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val1361Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.1978893T>A	NCI-TCGA
NSD2	O96028	p.Val1361Ile	rs757420003	missense variant	-	NC_000004.12:g.1978892G>A	ExAC,gnomAD
NSD2	O96028	p.Val1361Ala	rs997272577	missense variant	-	NC_000004.12:g.1978893T>C	TOPMed
NSD2	O96028	p.Gly1364Cys	rs548852837	missense variant	-	NC_000004.12:g.1978901G>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1364Ser	rs548852837	missense variant	-	NC_000004.12:g.1978901G>A	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1365Glu	rs758550808	missense variant	-	NC_000004.12:g.1978904A>G	ExAC,gnomAD
NSD2	O96028	p.Phe3Leu	rs917196718	missense variant	-	NC_000004.12:g.1900663T>G	TOPMed
NSD2	O96028	p.Ser4Asn	rs753120179	missense variant	-	NC_000004.12:g.1900665G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser4Asn	RCV000273154	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900665G>A	ClinVar
NSD2	O96028	p.Gln7Glu	rs770543236	missense variant	-	NC_000004.12:g.1900673C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu10Val	rs1328532362	missense variant	-	NC_000004.12:g.1900682C>G	gnomAD
NSD2	O96028	p.Ser11Cys	rs199734752	missense variant	-	NC_000004.12:g.1900686C>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val12Leu	rs372147092	missense variant	-	NC_000004.12:g.1900688G>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser14Thr	rs769348800	missense variant	-	NC_000004.12:g.1900695G>C	ExAC,gnomAD
NSD2	O96028	p.Val16Ile	rs1350111590	missense variant	-	NC_000004.12:g.1900700G>A	gnomAD
NSD2	O96028	p.Val16Leu	rs1350111590	missense variant	-	NC_000004.12:g.1900700G>T	gnomAD
NSD2	O96028	p.Lys17Asn	rs762019994	missense variant	-	NC_000004.12:g.1900705G>C	ExAC,gnomAD
NSD2	O96028	p.Cys18Gly	rs1263717370	missense variant	-	NC_000004.12:g.1900706T>G	gnomAD
NSD2	O96028	p.Ile19Val	rs1464089790	missense variant	-	NC_000004.12:g.1900709A>G	gnomAD
NSD2	O96028	p.Lys20Asn	rs765662635	missense variant	-	NC_000004.12:g.1900714G>C	ExAC,gnomAD
NSD2	O96028	p.Gln23Glu	rs1198342544	missense variant	-	NC_000004.12:g.1900721C>G	gnomAD
NSD2	O96028	p.Pro25Thr	rs546312898	missense variant	-	NC_000004.12:g.1900727C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ile27Val	rs1362685503	missense variant	-	NC_000004.12:g.1900733A>G	gnomAD
NSD2	O96028	p.Gly29Ser	rs754895784	missense variant	-	NC_000004.12:g.1900739G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asn32Ser	rs1423297284	missense variant	-	NC_000004.12:g.1900749A>G	gnomAD
NSD2	O96028	p.Gly33Arg	rs774534172	missense variant	-	NC_000004.12:g.1900751G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys34Arg	rs1305185045	missense variant	-	NC_000004.12:g.1900755A>G	gnomAD
NSD2	O96028	p.Lys34Asn	rs777673792	missense variant	-	NC_000004.12:g.1900756G>T	ExAC,gnomAD
NSD2	O96028	p.Thr35Ala	rs748919506	missense variant	-	NC_000004.12:g.1900757A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro36Leu	rs778558019	missense variant	-	NC_000004.12:g.1900761C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu39Lys	rs1490792778	missense variant	-	NC_000004.12:g.1900769G>A	gnomAD
NSD2	O96028	p.Glu39Gly	rs1400660779	missense variant	-	NC_000004.12:g.1900770A>G	TOPMed
NSD2	O96028	p.Glu43Lys	rs1165866735	missense variant	-	NC_000004.12:g.1900781G>A	TOPMed
NSD2	O96028	p.Cys44Phe	rs1249333230	missense variant	-	NC_000004.12:g.1900785G>T	gnomAD
NSD2	O96028	p.Gln52Ter	RCV000760760	nonsense	-	NC_000004.12:g.1900808C>T	ClinVar
NSD2	O96028	p.Gln52Ter	rs748707745	stop gained	-	NC_000004.12:g.1900808C>T	ExAC,gnomAD
NSD2	O96028	p.Ser55Gly	rs770028586	missense variant	-	NC_000004.12:g.1900817A>G	ExAC,gnomAD
NSD2	O96028	p.Ser56Gly	rs773660936	missense variant	-	NC_000004.12:g.1900820A>G	ExAC,gnomAD
NSD2	O96028	p.Leu57Met	rs546522074	missense variant	-	NC_000004.12:g.1900823C>A	gnomAD
NSD2	O96028	p.Glu59Lys	rs1443100451	missense variant	-	NC_000004.12:g.1900829G>A	TOPMed
NSD2	O96028	p.Gly60Arg	rs1366552622	missense variant	-	NC_000004.12:g.1900832G>A	TOPMed,gnomAD
NSD2	O96028	p.Met62Val	rs890741591	missense variant	-	NC_000004.12:g.1900838A>G	TOPMed,gnomAD
NSD2	O96028	p.Met62Thr	rs766646098	missense variant	-	NC_000004.12:g.1900839T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly67Ser	rs202235551	missense variant	-	NC_000004.12:g.1900853G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly67Ser	RCV000269913	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900853G>A	ClinVar
NSD2	O96028	p.His68Arg	rs752556934	missense variant	-	NC_000004.12:g.1900857A>G	ExAC,gnomAD
NSD2	O96028	p.Asp69Asn	rs1401743505	missense variant	-	NC_000004.12:g.1900859G>A	gnomAD
NSD2	O96028	p.Ala70Asp	rs757135156	missense variant	-	NC_000004.12:g.1900863C>A	ExAC,gnomAD
NSD2	O96028	p.Ala70Thr	rs753748334	missense variant	-	NC_000004.12:g.1900862G>A	ExAC,gnomAD
NSD2	O96028	p.Leu71Pro	rs1197242726	missense variant	-	NC_000004.12:g.1900866T>C	gnomAD
NSD2	O96028	p.Pro75Ala	rs748567663	missense variant	-	NC_000004.12:g.1900877C>G	ExAC,gnomAD
NSD2	O96028	p.Ala76Thr	rs770395467	missense variant	-	NC_000004.12:g.1900880G>A	ExAC,gnomAD
NSD2	O96028	p.Ala76Ser	rs770395467	missense variant	-	NC_000004.12:g.1900880G>T	ExAC,gnomAD
NSD2	O96028	p.Asp77Asn	rs749595883	missense variant	-	NC_000004.12:g.1900883G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp77Glu	rs200621548	missense variant	-	NC_000004.12:g.1900885C>G	TOPMed
NSD2	O96028	p.Asp81Tyr	rs771287635	missense variant	-	NC_000004.12:g.1900895G>T	ExAC,gnomAD
NSD2	O96028	p.Arg85Trp	rs201573732	missense variant	-	NC_000004.12:g.1900907C>T	ExAC,gnomAD
NSD2	O96028	p.Arg85Gln	rs759803629	missense variant	-	NC_000004.12:g.1900908G>A	ExAC,gnomAD
NSD2	O96028	p.Gly89Glu	rs772015827	missense variant	-	NC_000004.12:g.1900920G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly92Ser	rs764038848	missense variant	-	NC_000004.12:g.1900928G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala93Thr	rs761663126	missense variant	-	NC_000004.12:g.1900931G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His94Tyr	rs1260819566	missense variant	-	NC_000004.12:g.1900934C>T	gnomAD
NSD2	O96028	p.Ala96Ser	rs1263035862	missense variant	-	NC_000004.12:g.1900940G>T	gnomAD
NSD2	O96028	p.Lys97Arg	rs376638264	missense variant	-	NC_000004.12:g.1900944A>G	ESP,TOPMed,gnomAD
NSD2	O96028	p.Lys97Gln	rs909009733	missense variant	-	NC_000004.12:g.1900943A>C	TOPMed,gnomAD
NSD2	O96028	p.Lys97Glu	rs909009733	missense variant	-	NC_000004.12:g.1900943A>G	TOPMed,gnomAD
NSD2	O96028	p.Lys97Thr	rs376638264	missense variant	-	NC_000004.12:g.1900944A>C	ESP,TOPMed,gnomAD
NSD2	O96028	p.Leu98Arg	rs1261446605	missense variant	-	NC_000004.12:g.1900947T>G	gnomAD
NSD2	O96028	p.Leu98Val	rs758105062	missense variant	-	NC_000004.12:g.1900946C>G	ExAC,gnomAD
NSD2	O96028	p.Arg99Cys	rs779422565	missense variant	-	NC_000004.12:g.1900949C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg99His	rs751138696	missense variant	-	NC_000004.12:g.1900950G>A	ExAC,gnomAD
NSD2	O96028	p.Glu101Asp	rs925579283	missense variant	-	NC_000004.12:g.1900957G>C	TOPMed
NSD2	O96028	p.Ser102Thr	rs754460633	missense variant	-	NC_000004.12:g.1900958T>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser102Cys	rs778184509	missense variant	-	NC_000004.12:g.1900959C>G	ExAC,gnomAD
NSD2	O96028	p.Gln103Glu	rs749825396	missense variant	-	NC_000004.12:g.1900961C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln103Arg	rs974437164	missense variant	-	NC_000004.12:g.1900962A>G	TOPMed,gnomAD
NSD2	O96028	p.Met105Val	rs1428525782	missense variant	-	NC_000004.12:g.1900967A>G	gnomAD
NSD2	O96028	p.Lys106Glu	rs1271075487	missense variant	-	NC_000004.12:g.1900970A>G	TOPMed
NSD2	O96028	p.Gly107Arg	rs771265108	missense variant	-	NC_000004.12:g.1900973G>A	ExAC,gnomAD
NSD2	O96028	p.Ile108Phe	rs1362608884	missense variant	-	NC_000004.12:g.1900976A>T	gnomAD
NSD2	O96028	p.Pro111Arg	rs746073848	missense variant	-	NC_000004.12:g.1900986C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro111Leu	rs746073848	missense variant	-	NC_000004.12:g.1900986C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro111Thr	rs541714722	missense variant	-	NC_000004.12:g.1900985C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Pro112Thr	rs1192924102	missense variant	-	NC_000004.12:g.1900988C>A	gnomAD
NSD2	O96028	p.Pro112Arg	rs1322308834	missense variant	-	NC_000004.12:g.1900989C>G	gnomAD
NSD2	O96028	p.Thr114Ser	rs200319561	missense variant	-	NC_000004.12:g.1900995C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro116Ser	rs564864503	missense variant	-	NC_000004.12:g.1901000C>T	gnomAD
NSD2	O96028	p.Ile117Val	rs775593120	missense variant	-	NC_000004.12:g.1901003A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile117Thr	rs78479906	missense variant	-	NC_000004.12:g.1901004T>C	1000Genomes,ExAC
NSD2	O96028	p.Ser121Cys	rs1196229263	missense variant	-	NC_000004.12:g.1901016C>G	gnomAD
NSD2	O96028	p.Ser121Pro	rs1486493780	missense variant	-	NC_000004.12:g.1901015T>C	gnomAD
NSD2	O96028	p.Ile128Val	rs1175154998	missense variant	-	NC_000004.12:g.1901036A>G	gnomAD
NSD2	O96028	p.Met133Thr	rs140401180	missense variant	-	NC_000004.12:g.1901052T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly135Arg	rs765090322	missense variant	-	NC_000004.12:g.1901057G>A	ExAC,gnomAD
NSD2	O96028	p.Leu138Val	rs1421443584	missense variant	-	NC_000004.12:g.1901066C>G	gnomAD
NSD2	O96028	p.Ile143Met	rs762496382	missense variant	-	NC_000004.12:g.1901083T>G	ExAC,gnomAD
NSD2	O96028	p.Cys144Tyr	rs373286964	missense variant	-	NC_000004.12:g.1901085G>A	ESP,TOPMed
NSD2	O96028	p.Ser147Thr	rs765998236	missense variant	-	NC_000004.12:g.1901094G>C	ExAC,TOPMed
NSD2	O96028	p.Ala149Thr	rs145603828	missense variant	-	NC_000004.12:g.1901099G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val151Ala	rs754468750	missense variant	-	NC_000004.12:g.1901106T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu155Lys	rs754314502	missense variant	-	NC_000004.12:g.1901117G>A	ExAC,gnomAD
NSD2	O96028	p.Asn157Thr	rs757829574	missense variant	-	NC_000004.12:g.1901124A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly158Arg	rs779235854	missense variant	-	NC_000004.12:g.1901126G>A	ExAC,gnomAD
NSD2	O96028	p.Pro161Thr	rs568583435	missense variant	-	NC_000004.12:g.1901135C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Glu162Gln	rs758697327	missense variant	-	NC_000004.12:g.1901138G>C	ExAC,gnomAD
NSD2	O96028	p.Asn163Lys	rs780286540	missense variant	-	NC_000004.12:g.1901143C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala165Val	rs373161300	missense variant	-	NC_000004.12:g.1901148C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg167Ser	rs1324420839	missense variant	-	NC_000004.12:g.1901155G>T	TOPMed
NSD2	O96028	p.Arg171Lys	rs768831620	missense variant	-	NC_000004.12:g.1901166G>A	ExAC,gnomAD
NSD2	O96028	p.Arg171Thr	rs768831620	missense variant	-	NC_000004.12:g.1901166G>C	ExAC,gnomAD
NSD2	O96028	p.Ile173Val	rs1055872699	missense variant	-	NC_000004.12:g.1901171A>G	TOPMed
NSD2	O96028	p.Ile173Met	rs1441448478	missense variant	-	NC_000004.12:g.1901173A>G	gnomAD
NSD2	O96028	p.Lys174Thr	rs776888983	missense variant	-	NC_000004.12:g.1901175A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr175Cys	rs748089712	missense variant	-	NC_000004.12:g.1901178A>G	ExAC,TOPMed
NSD2	O96028	p.Leu178Ser	rs1325306850	missense variant	-	NC_000004.12:g.1901187T>C	gnomAD
NSD2	O96028	p.Glu180Asp	rs1352348277	missense variant	-	NC_000004.12:g.1901194G>T	gnomAD
NSD2	O96028	p.Gln181Arg	rs994171255	missense variant	-	NC_000004.12:g.1901196A>G	TOPMed,gnomAD
NSD2	O96028	p.Gln181His	rs769906407	missense variant	-	NC_000004.12:g.1901197G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly182Ser	rs773295682	missense variant	-	NC_000004.12:g.1901198G>A	ExAC,gnomAD
NSD2	O96028	p.Gly182Asp	rs1026029934	missense variant	-	NC_000004.12:g.1901199G>A	TOPMed,gnomAD
NSD2	O96028	p.Leu183Val	rs1024108009	missense variant	-	NC_000004.12:g.1901201C>G	TOPMed
NSD2	O96028	p.Val184Ala	rs1313506074	missense variant	-	NC_000004.12:g.1901205T>C	TOPMed,gnomAD
NSD2	O96028	p.Leu188Val	RCV000279153	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1901216C>G	ClinVar
NSD2	O96028	p.Leu188Phe	rs886059315	missense variant	-	NC_000004.12:g.1901216C>T	gnomAD
NSD2	O96028	p.Leu188Val	rs886059315	missense variant	-	NC_000004.12:g.1901216C>G	gnomAD
NSD2	O96028	p.Val189Met	rs1292473830	missense variant	-	NC_000004.12:g.1901219G>A	gnomAD
NSD2	O96028	p.Ile192Val	rs1436285466	missense variant	-	NC_000004.12:g.1901228A>G	TOPMed,gnomAD
NSD2	O96028	p.Pro195Leu	rs752263356	missense variant	-	NC_000004.12:g.1901238C>T	ExAC,gnomAD
NSD2	O96028	p.Glu205Gln	rs1398870006	missense variant	-	NC_000004.12:g.1904231G>C	gnomAD
NSD2	O96028	p.Ser206Cys	rs1325234907	missense variant	-	NC_000004.12:g.1904235C>G	TOPMed,gnomAD
NSD2	O96028	p.Pro208Thr	rs1430402689	missense variant	-	NC_000004.12:g.1904240C>A	gnomAD
NSD2	O96028	p.Thr210Ala	rs766759466	missense variant	-	NC_000004.12:g.1904246A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly211Glu	rs192103195	missense variant	-	NC_000004.12:g.1904250G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Arg212Gly	rs781497272	missense variant	-	NC_000004.12:g.1904252A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg212Thr	rs1345867166	missense variant	-	NC_000004.12:g.1904253G>C	gnomAD
NSD2	O96028	p.Lys214Glu	rs1373329229	missense variant	-	NC_000004.12:g.1904258A>G	TOPMed
NSD2	O96028	p.Asp215Gly	rs756213696	missense variant	-	NC_000004.12:g.1904262A>G	ExAC,gnomAD
NSD2	O96028	p.His216Tyr	rs557801913	missense variant	-	NC_000004.12:g.1904264C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Asn221Ser	rs577771710	missense variant	-	NC_000004.12:g.1904280A>G	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val222Ile	rs150146753	missense variant	-	NC_000004.12:g.1904282G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val230Ala	rs1460755399	missense variant	-	NC_000004.12:g.1904307T>C	TOPMed
NSD2	O96028	p.Ser231Leu	rs750127826	missense variant	-	NC_000004.12:g.1904310C>T	ExAC,gnomAD
NSD2	O96028	p.Gly232Arg	rs768184951	missense variant	-	NC_000004.12:g.1904312G>C	ExAC,gnomAD
NSD2	O96028	p.Trp236Ter	RCV000736076	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1904326G>A	ClinVar
NSD2	O96028	p.Met239Val	rs1403312398	missense variant	-	NC_000004.12:g.1904333A>G	gnomAD
NSD2	O96028	p.Leu245Phe	rs776067673	missense variant	-	NC_000004.12:g.1904351C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu245Val	rs776067673	missense variant	-	NC_000004.12:g.1904351C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser248Asn	rs1235439143	missense variant	-	NC_000004.12:g.1904361G>A	gnomAD
NSD2	O96028	p.Tyr249His	rs1241410661	missense variant	-	NC_000004.12:g.1904363T>C	TOPMed,gnomAD
NSD2	O96028	p.Lys251Arg	rs766736390	missense variant	-	NC_000004.12:g.1904370A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln265Ter	RCV000736077	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1916903C>T	ClinVar
NSD2	O96028	p.Ala270Val	rs556204462	missense variant	-	NC_000004.12:g.1916919C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ala270Thr	rs372805518	missense variant	-	NC_000004.12:g.1916918G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Ala274Ser	rs754123039	missense variant	-	NC_000004.12:g.1916930G>T	ExAC,gnomAD
NSD2	O96028	p.Ala274Thr	rs754123039	missense variant	-	NC_000004.12:g.1916930G>A	ExAC,gnomAD
NSD2	O96028	p.Ile276Met	rs757238305	missense variant	-	NC_000004.12:g.1916938A>G	ExAC,gnomAD
NSD2	O96028	p.Phe277Leu	rs377282154	missense variant	-	NC_000004.12:g.1916939T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu278Asp	rs773417934	missense variant	-	NC_000004.12:g.1916944G>C	TOPMed,gnomAD
NSD2	O96028	p.Ser280Gly	rs1162158242	missense variant	-	NC_000004.12:g.1916948A>G	gnomAD
NSD2	O96028	p.Leu281Ile	rs750333708	missense variant	-	NC_000004.12:g.1916951C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val282Ile	rs1033486520	missense variant	-	NC_000004.12:g.1916954G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala283Gly	rs1466344253	missense variant	-	NC_000004.12:g.1916958C>G	gnomAD
NSD2	O96028	p.Glu287Gly	rs746743921	missense variant	-	NC_000004.12:g.1916970A>G	ExAC,gnomAD
NSD2	O96028	p.Gly288Glu	rs754805178	missense variant	-	NC_000004.12:g.1916973G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu291Gly	rs1303399819	missense variant	-	NC_000004.12:g.1916982A>G	gnomAD
NSD2	O96028	p.Cys294Arg	rs769162551	missense variant	-	NC_000004.12:g.1916990T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Cys294Phe	rs1334376909	missense variant	-	NC_000004.12:g.1916991G>T	gnomAD
NSD2	O96028	p.Cys294Gly	rs769162551	missense variant	-	NC_000004.12:g.1916990T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln295Leu	RCV000391888	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1916994A>T	ClinVar
NSD2	O96028	p.Gln295Arg	rs144431814	missense variant	-	NC_000004.12:g.1916994A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln295Leu	rs144431814	missense variant	-	NC_000004.12:g.1916994A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu296Gly	rs746372645	missense variant	-	NC_000004.12:g.1916997A>G	ExAC
NSD2	O96028	p.Pro302Ser	rs202207779	missense variant	-	NC_000004.12:g.1917014C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala305Val	rs1260679780	missense variant	-	NC_000004.12:g.1917024C>T	gnomAD
NSD2	O96028	p.Glu306Gly	rs1356191814	missense variant	-	NC_000004.12:g.1917027A>G	TOPMed,gnomAD
NSD2	O96028	p.Ile308Thr	rs967018941	missense variant	-	NC_000004.12:g.1917033T>C	TOPMed
NSD2	O96028	p.Ile308Met	rs760909823	missense variant	-	NC_000004.12:g.1917034T>G	ExAC,gnomAD
NSD2	O96028	p.Leu311Phe	rs1238040522	missense variant	-	NC_000004.12:g.1918146G>T	gnomAD
NSD2	O96028	p.Ile314Val	RCV000339914	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918153A>G	ClinVar
NSD2	O96028	p.Ile314Val	rs371529672	missense variant	-	NC_000004.12:g.1918153A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser315Leu	rs1488845434	missense variant	-	NC_000004.12:g.1918157C>T	gnomAD
NSD2	O96028	p.Ser315Ala	rs770598241	missense variant	-	NC_000004.12:g.1918156T>G	ExAC,gnomAD
NSD2	O96028	p.Arg319Lys	rs1266982310	missense variant	-	NC_000004.12:g.1918169G>A	gnomAD
NSD2	O96028	p.Ala320Thr	rs747603711	missense variant	-	NC_000004.12:g.1918171G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln321His	rs1427424974	missense variant	-	NC_000004.12:g.1918176G>T	gnomAD
NSD2	O96028	p.Val327Phe	rs1380872489	missense variant	-	NC_000004.12:g.1918192G>T	TOPMed,gnomAD
NSD2	O96028	p.Gln328Glu	rs761932000	missense variant	-	NC_000004.12:g.1918195C>G	ExAC,gnomAD
NSD2	O96028	p.Ala333Val	rs1359955856	missense variant	-	NC_000004.12:g.1918211C>T	TOPMed
NSD2	O96028	p.Ser334Gly	rs1294763394	missense variant	-	NC_000004.12:g.1918213A>G	gnomAD
NSD2	O96028	p.Met335Leu	rs762977766	missense variant	-	NC_000004.12:g.1918216A>C	ExAC,gnomAD
NSD2	O96028	p.Met335Thr	rs1238576646	missense variant	-	NC_000004.12:g.1918217T>C	gnomAD
NSD2	O96028	p.Met335Val	rs762977766	missense variant	-	NC_000004.12:g.1918216A>G	ExAC,gnomAD
NSD2	O96028	p.Ser336Leu	rs1355075058	missense variant	-	NC_000004.12:g.1918220C>T	gnomAD
NSD2	O96028	p.Ser336Pro	rs766466000	missense variant	-	NC_000004.12:g.1918219T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val337Glu	rs1432951280	missense variant	-	NC_000004.12:g.1918223T>A	TOPMed
NSD2	O96028	p.Arg340Gln	rs1159806209	missense variant	-	NC_000004.12:g.1918232G>A	TOPMed
NSD2	O96028	p.Phe344Tyr	rs1288253121	missense variant	-	NC_000004.12:g.1918244T>A	gnomAD
NSD2	O96028	p.Thr345Ile	rs1422010407	missense variant	-	NC_000004.12:g.1918247C>T	TOPMed
NSD2	O96028	p.Phe346Ile	rs759556940	missense variant	-	NC_000004.12:g.1918249T>A	ExAC
NSD2	O96028	p.Tyr348Cys	rs752594374	missense variant	-	NC_000004.12:g.1918256A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr348Phe	rs752594374	missense variant	-	NC_000004.12:g.1918256A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr348His	rs1248495684	missense variant	-	NC_000004.12:g.1918255T>C	gnomAD
NSD2	O96028	p.Val349Met	rs777528706	missense variant	-	NC_000004.12:g.1918258G>A	ExAC,gnomAD
NSD2	O96028	p.Gly350Glu	rs1238838764	missense variant	-	NC_000004.12:g.1918262G>A	TOPMed
NSD2	O96028	p.Asp351Glu	rs1161442762	missense variant	-	NC_000004.12:g.1918266C>A	gnomAD
NSD2	O96028	p.Leu353Val	rs1185258343	missense variant	-	NC_000004.12:g.1918270C>G	TOPMed
NSD2	O96028	p.His354Leu	rs1485072620	missense variant	-	NC_000004.12:g.1918274A>T	TOPMed
NSD2	O96028	p.Val359Leu	rs1405575368	missense variant	-	NC_000004.12:g.1918288G>T	gnomAD
NSD2	O96028	p.Ala360Asp	rs1166527461	missense variant	-	NC_000004.12:g.1918292C>A	TOPMed,gnomAD
NSD2	O96028	p.Ala360Val	rs1166527461	missense variant	-	NC_000004.12:g.1918292C>T	TOPMed,gnomAD
NSD2	O96028	p.Lys361Arg	rs1445338131	missense variant	-	NC_000004.12:g.1918295A>G	gnomAD
NSD2	O96028	p.Lys361Gln	rs199762353	missense variant	-	NC_000004.12:g.1918294A>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu362Val	rs747469766	missense variant	-	NC_000004.12:g.1918298A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu362Asp	rs769268150	missense variant	-	NC_000004.12:g.1918299G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala363Thr	rs1449724087	missense variant	-	NC_000004.12:g.1918300G>A	gnomAD
NSD2	O96028	p.Ala366Val	rs1356140581	missense variant	-	NC_000004.12:g.1918310C>T	gnomAD
NSD2	O96028	p.Ala367Val	rs1229281568	missense variant	-	NC_000004.12:g.1918313C>T	TOPMed,gnomAD
NSD2	O96028	p.Glu368Lys	rs1292228347	missense variant	-	NC_000004.12:g.1918315G>A	gnomAD
NSD2	O96028	p.Ser369Tyr	rs1198012129	missense variant	-	NC_000004.12:g.1918319C>A	gnomAD
NSD2	O96028	p.Ser369Pro	rs1316305610	missense variant	-	NC_000004.12:g.1918318T>C	gnomAD
NSD2	O96028	p.Leu370Ser	rs1238938071	missense variant	-	NC_000004.12:g.1918322T>C	TOPMed,gnomAD
NSD2	O96028	p.Gly371Glu	rs1340467827	missense variant	-	NC_000004.12:g.1918325G>A	gnomAD
NSD2	O96028	p.Ala374Glu	rs773370922	missense variant	-	NC_000004.12:g.1918334C>A	ExAC,gnomAD
NSD2	O96028	p.Ala374Val	rs773370922	missense variant	-	NC_000004.12:g.1918334C>T	ExAC,gnomAD
NSD2	O96028	p.Ala374Thr	rs770171601	missense variant	-	NC_000004.12:g.1918333G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu375Lys	rs763209260	missense variant	-	NC_000004.12:g.1918336G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser376Phe	rs1472983214	missense variant	-	NC_000004.12:g.1918340C>T	gnomAD
NSD2	O96028	p.Gly378Glu	rs140212386	missense variant	-	NC_000004.12:g.1918346G>A	ESP,TOPMed
NSD2	O96028	p.Val379Ile	rs770966499	missense variant	-	NC_000004.12:g.1918348G>A	ExAC,gnomAD
NSD2	O96028	p.Val379Phe	rs770966499	missense variant	-	NC_000004.12:g.1918348G>T	ExAC,gnomAD
NSD2	O96028	p.Ser380Arg	rs774556109	missense variant	-	NC_000004.12:g.1918353T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser380Asn	rs1416878451	missense variant	-	NC_000004.12:g.1918352G>A	gnomAD
NSD2	O96028	p.Glu382Lys	rs759377936	missense variant	-	NC_000004.12:g.1918357G>A	ExAC,gnomAD
NSD2	O96028	p.Ala383Gly	rs1401905410	missense variant	-	NC_000004.12:g.1918361C>G	TOPMed,gnomAD
NSD2	O96028	p.Ala384Thr	rs767422079	missense variant	-	NC_000004.12:g.1918363G>A	ExAC,gnomAD
NSD2	O96028	p.Pro387Ala	rs1340418858	missense variant	-	NC_000004.12:g.1918372C>G	gnomAD
NSD2	O96028	p.Lys388Arg	rs760499309	missense variant	-	NC_000004.12:g.1918376A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Thr	rs760499309	missense variant	-	NC_000004.12:g.1918376A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Asn	rs753512534	missense variant	-	NC_000004.12:g.1918377G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Asn	rs753512534	missense variant	-	NC_000004.12:g.1918377G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser389Pro	rs1338705176	missense variant	-	NC_000004.12:g.1918378T>C	gnomAD
NSD2	O96028	p.Val390Leu	rs749895097	missense variant	-	NC_000004.12:g.1918381G>C	ExAC,gnomAD
NSD2	O96028	p.Arg391Gly	rs890082810	missense variant	-	NC_000004.12:g.1918384A>G	TOPMed
NSD2	O96028	p.Cys394Tyr	rs1320151142	missense variant	-	NC_000004.12:g.1918394G>A	TOPMed,gnomAD
NSD2	O96028	p.Cys394Phe	rs1320151142	missense variant	-	NC_000004.12:g.1918394G>T	TOPMed,gnomAD
NSD2	O96028	p.Ile395Val	rs757846841	missense variant	-	NC_000004.12:g.1918396A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg401Gln	rs748673417	missense variant	-	NC_000004.12:g.1918415G>A	ExAC,gnomAD
NSD2	O96028	p.Arg401Trp	rs1211896693	missense variant	-	NC_000004.12:g.1918414C>T	TOPMed,gnomAD
NSD2	O96028	p.Arg402Lys	rs1477277482	missense variant	-	NC_000004.12:g.1918418G>A	gnomAD
NSD2	O96028	p.Glu410Asp	rs1323304367	missense variant	-	NC_000004.12:g.1918443G>T	TOPMed
NSD2	O96028	p.Glu410Val	rs1222147246	missense variant	-	NC_000004.12:g.1918442A>T	TOPMed
NSD2	O96028	p.Thr411Ile	rs1270991536	missense variant	-	NC_000004.12:g.1918445C>T	TOPMed
NSD2	O96028	p.Ser414Thr	rs1171494347	missense variant	-	NC_000004.12:g.1918454G>C	gnomAD
NSD2	O96028	p.Pro416Ser	rs1278980140	missense variant	-	NC_000004.12:g.1918459C>T	TOPMed
NSD2	O96028	p.Asp417Asn	rs745921448	missense variant	-	NC_000004.12:g.1918462G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly419Glu	rs544842635	missense variant	-	NC_000004.12:g.1918469G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys420Glu	rs775476451	missense variant	-	NC_000004.12:g.1918471A>G	ExAC,gnomAD
NSD2	O96028	p.Ser421Arg	rs1202036637	missense variant	-	NC_000004.12:g.1918474A>C	TOPMed,gnomAD
NSD2	O96028	p.Thr422Ile	rs1027089911	missense variant	-	NC_000004.12:g.1918478C>T	TOPMed
NSD2	O96028	p.Pro423Leu	rs1231087793	missense variant	-	NC_000004.12:g.1918481C>T	TOPMed,gnomAD
NSD2	O96028	p.Pro423Ser	rs775406978	missense variant	-	NC_000004.12:g.1918480C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr426Met	rs200784805	missense variant	-	NC_000004.12:g.1918490C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu428Asp	rs764880891	missense variant	-	NC_000004.12:g.1918497G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala429Asp	rs1418109519	missense variant	-	NC_000004.12:g.1918499C>A	TOPMed
NSD2	O96028	p.Pro431Ser	rs1217095015	missense variant	-	NC_000004.12:g.1918504C>T	TOPMed,gnomAD
NSD2	O96028	p.Arg432Gly	rs1449515277	missense variant	-	NC_000004.12:g.1918507A>G	gnomAD
NSD2	O96028	p.Arg432Ser	rs757872063	missense variant	-	NC_000004.12:g.1918509A>C	ExAC,gnomAD
NSD2	O96028	p.Val435Ile	rs765853067	missense variant	-	NC_000004.12:g.1918516G>A	ExAC,gnomAD
NSD2	O96028	p.Gly436Val	rs769930210	missense variant	-	NC_000004.12:g.1918520G>T	ExAC,gnomAD
NSD2	O96028	p.Gly436Glu	rs769930210	missense variant	-	NC_000004.12:g.1918520G>A	ExAC,gnomAD
NSD2	O96028	p.Gly436Arg	rs1478631765	missense variant	-	NC_000004.12:g.1918519G>A	gnomAD
NSD2	O96028	p.Pro438Leu	rs533653843	missense variant	-	NC_000004.12:g.1918526C>T	gnomAD
NSD2	O96028	p.Pro439Leu	rs1299204529	missense variant	-	NC_000004.12:g.1918529C>T	gnomAD
NSD2	O96028	p.Pro439Ser	rs1024984881	missense variant	-	NC_000004.12:g.1918528C>T	TOPMed,gnomAD
NSD2	O96028	p.Pro439Ala	rs1024984881	missense variant	-	NC_000004.12:g.1918528C>G	TOPMed,gnomAD
NSD2	O96028	p.Arg441Trp	rs1258951493	missense variant	-	NC_000004.12:g.1918534A>T	TOPMed
NSD2	O96028	p.Lys442Arg	rs778096764	missense variant	-	NC_000004.12:g.1918538A>G	ExAC,gnomAD
NSD2	O96028	p.Thr444Ala	RCV000309220	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918543A>G	ClinVar
NSD2	O96028	p.Thr444Asn	rs1235550316	missense variant	-	NC_000004.12:g.1918544C>A	gnomAD
NSD2	O96028	p.Thr444Ala	rs112014939	missense variant	-	NC_000004.12:g.1918543A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser447Cys	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>G	TOPMed,gnomAD
NSD2	O96028	p.Ser447Tyr	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>A	TOPMed,gnomAD
NSD2	O96028	p.Ser447Phe	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>T	TOPMed,gnomAD
NSD2	O96028	p.Met448Ile	rs1220362986	missense variant	-	NC_000004.12:g.1918557G>T	TOPMed
NSD2	O96028	p.Met448Val	rs1352916117	missense variant	-	NC_000004.12:g.1918555A>G	gnomAD
NSD2	O96028	p.Pro449Ser	rs757593548	missense variant	-	NC_000004.12:g.1918558C>T	ExAC,gnomAD
NSD2	O96028	p.Arg450Gln	rs146822227	missense variant	-	NC_000004.12:g.1918562G>A	1000Genomes,ExAC
NSD2	O96028	p.Ser451Gly	rs746127427	missense variant	-	NC_000004.12:g.1918564A>G	ExAC,gnomAD
NSD2	O96028	p.Ser451Asn	rs528156709	missense variant	-	NC_000004.12:g.1918565G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Arg452Lys	rs775781891	missense variant	-	NC_000004.12:g.1918568G>A	ExAC,gnomAD
NSD2	O96028	p.Asp455Gly	rs551480723	missense variant	-	NC_000004.12:g.1918577A>G	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala456Pro	rs1301786203	missense variant	-	NC_000004.12:g.1918579G>C	TOPMed
NSD2	O96028	p.Ala456Gly	rs1173566157	missense variant	-	NC_000004.12:g.1918580C>G	gnomAD
NSD2	O96028	p.Gln459Arg	rs768660174	missense variant	-	NC_000004.12:g.1918589A>G	ExAC,gnomAD
NSD2	O96028	p.Leu461Phe	rs776718972	missense variant	-	NC_000004.12:g.1918596G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val462Ile	rs909812134	missense variant	-	NC_000004.12:g.1918597G>A	TOPMed,gnomAD
NSD2	O96028	p.Phe463Cys	rs1460113219	missense variant	-	NC_000004.12:g.1918601T>G	TOPMed
NSD2	O96028	p.Gln465Arg	rs200573697	missense variant	-	NC_000004.12:g.1918607A>G	TOPMed,gnomAD
NSD2	O96028	p.His467Tyr	rs1365973299	missense variant	-	NC_000004.12:g.1918612C>T	gnomAD
NSD2	O96028	p.Asp469Glu	rs762549754	missense variant	-	NC_000004.12:g.1918620T>A	ExAC,gnomAD
NSD2	O96028	p.Asp469Asn	rs772894930	missense variant	-	NC_000004.12:g.1918618G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu470Lys	rs1393187232	missense variant	-	NC_000004.12:g.1918621G>A	TOPMed
NSD2	O96028	p.Val471Leu	rs762295992	missense variant	-	NC_000004.12:g.1930626G>T	ExAC,gnomAD
NSD2	O96028	p.Pro476Ala	rs372548092	missense variant	-	NC_000004.12:g.1930641C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro476Ser	rs372548092	missense variant	-	NC_000004.12:g.1930641C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu482Gly	rs750699195	missense variant	-	NC_000004.12:g.1930660A>G	ExAC,gnomAD
NSD2	O96028	p.Ile483Met	rs780387498	missense variant	-	NC_000004.12:g.1930664T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile483Thr	rs758798682	missense variant	-	NC_000004.12:g.1930663T>C	ExAC,gnomAD
NSD2	O96028	p.Glu485Ter	rs1465546689	stop gained	-	NC_000004.12:g.1930668G>T	gnomAD
NSD2	O96028	p.Glu485Asp	rs536667286	missense variant	-	NC_000004.12:g.1930670G>C	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Glu485Val	rs1303202014	missense variant	-	NC_000004.12:g.1930669A>T	gnomAD
NSD2	O96028	p.Ser495Asn	rs1424170850	missense variant	-	NC_000004.12:g.1930699G>A	TOPMed
NSD2	O96028	p.Ala500Thr	rs781458614	missense variant	-	NC_000004.12:g.1930713G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val509Leu	rs748110450	missense variant	-	NC_000004.12:g.1930740G>C	ExAC,gnomAD
NSD2	O96028	p.Ala510Val	rs769675903	missense variant	-	NC_000004.12:g.1930744C>T	ExAC,gnomAD
NSD2	O96028	p.Ala510Pro	rs1256922030	missense variant	-	NC_000004.12:g.1930743G>C	gnomAD
NSD2	O96028	p.Val512Leu	rs777777950	missense variant	-	NC_000004.12:g.1930749G>C	ExAC,gnomAD
NSD2	O96028	p.Ala514Thr	rs1262675030	missense variant	-	NC_000004.12:g.1930755G>A	gnomAD
NSD2	O96028	p.Ala514Gly	rs1028583535	missense variant	-	NC_000004.12:g.1930756C>G	TOPMed,gnomAD
NSD2	O96028	p.Glu515Lys	rs1188354432	missense variant	-	NC_000004.12:g.1930758G>A	gnomAD
NSD2	O96028	p.Glu516Asp	rs748968237	missense variant	-	NC_000004.12:g.1930763A>C	ExAC,gnomAD
NSD2	O96028	p.Gly519Ala	rs768231623	missense variant	-	NC_000004.12:g.1935144G>C	ExAC
NSD2	O96028	p.Val521Gly	rs763599385	missense variant	-	NC_000004.12:g.1935150T>G	ExAC,gnomAD
NSD2	O96028	p.Val521Leu	rs184269531	missense variant	-	NC_000004.12:g.1935149G>C	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val521Ile	rs184269531	missense variant	-	NC_000004.12:g.1935149G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Asn522Ser	rs766849084	missense variant	-	NC_000004.12:g.1935153A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly523Glu	rs1373823679	missense variant	-	NC_000004.12:g.1935156G>A	gnomAD
NSD2	O96028	p.Lys524Arg	rs1404880935	missense variant	-	NC_000004.12:g.1935159A>G	TOPMed
NSD2	O96028	p.Lys524Ter	RCV000736075	frameshift	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1935157dup	ClinVar
NSD2	O96028	p.Lys525Glu	rs376083183	missense variant	-	NC_000004.12:g.1935161A>G	ESP,ExAC,gnomAD
NSD2	O96028	p.Arg526Gly	rs767569743	missense variant	-	NC_000004.12:g.1935164A>G	ExAC,gnomAD
NSD2	O96028	p.Arg526Lys	rs1158851983	missense variant	-	NC_000004.12:g.1935165G>A	TOPMed
NSD2	O96028	p.His528Gln	RCV000269277	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935172C>A	ClinVar
NSD2	O96028	p.His528Asn	RCV000366205	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935170C>A	ClinVar
NSD2	O96028	p.His528Asn	rs139753036	missense variant	-	NC_000004.12:g.1935170C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.His528Gln	rs149810908	missense variant	-	NC_000004.12:g.1935172C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr529Ile	rs1439655332	missense variant	-	NC_000004.12:g.1935174C>T	TOPMed
NSD2	O96028	p.Thr529Pro	rs145704598	missense variant	-	NC_000004.12:g.1935173A>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg531Thr	rs140468997	missense variant	-	NC_000004.12:g.1935180G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile532Ter	RCV000657550	frameshift	-	NC_000004.12:g.1935176_1935177dup	ClinVar
NSD2	O96028	p.Thr536Ile	rs758217696	missense variant	-	NC_000004.12:g.1935195C>T	ExAC,gnomAD
NSD2	O96028	p.Asp538Val	rs201639781	missense variant	-	NC_000004.12:g.1935201A>T	1000Genomes,TOPMed
NSD2	O96028	p.Ala539Thr	rs746720577	missense variant	-	NC_000004.12:g.1935203G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu540Lys	rs768024031	missense variant	-	NC_000004.12:g.1935206G>A	ExAC
NSD2	O96028	p.Ala541Val	rs1405664178	missense variant	-	NC_000004.12:g.1935210C>T	gnomAD
NSD2	O96028	p.Thr544Ala	rs776275446	missense variant	-	NC_000004.12:g.1935218A>G	ExAC,gnomAD
NSD2	O96028	p.Pro545Ser	rs749802617	missense variant	-	NC_000004.12:g.1935221C>T	ExAC,gnomAD
NSD2	O96028	p.Pro545Leu	rs771509829	missense variant	-	NC_000004.12:g.1935222C>T	ExAC,gnomAD
NSD2	O96028	p.Arg546Lys	rs775004764	missense variant	-	NC_000004.12:g.1935225G>A	ExAC,gnomAD
NSD2	O96028	p.Thr551Met	rs146509878	missense variant	-	NC_000004.12:g.1935240C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys553Arg	rs761024107	missense variant	-	NC_000004.12:g.1935246A>G	ExAC,gnomAD
NSD2	O96028	p.His554Gln	rs1273557385	missense variant	-	NC_000004.12:g.1935250C>G	TOPMed,gnomAD
NSD2	O96028	p.Ser555Gly	rs1439497500	missense variant	-	NC_000004.12:g.1935251A>G	gnomAD
NSD2	O96028	p.Leu556Val	rs950240383	missense variant	-	NC_000004.12:g.1935254C>G	TOPMed,gnomAD
NSD2	O96028	p.Arg557Trp	rs1207755212	missense variant	-	NC_000004.12:g.1935257C>T	TOPMed,gnomAD
NSD2	O96028	p.Asp560Glu	rs1434444449	missense variant	-	NC_000004.12:g.1938456C>G	gnomAD
NSD2	O96028	p.Ile562Val	rs1274132193	missense variant	-	NC_000004.12:g.1938460A>G	gnomAD
NSD2	O96028	p.Ile562Ser	rs1370534690	missense variant	-	NC_000004.12:g.1938461T>G	TOPMed
NSD2	O96028	p.Asp564Glu	rs1323423253	missense variant	-	NC_000004.12:g.1938468C>G	TOPMed,gnomAD
NSD2	O96028	p.Thr569Arg	rs967022469	missense variant	-	NC_000004.12:g.1938482C>G	TOPMed
NSD2	O96028	p.Ser570Ile	rs1244974581	missense variant	-	NC_000004.12:g.1938485G>T	gnomAD
NSD2	O96028	p.Ser571Cys	rs763018932	missense variant	-	NC_000004.12:g.1938488C>G	ExAC,gnomAD
NSD2	O96028	p.Ser571Phe	rs763018932	missense variant	-	NC_000004.12:g.1938488C>T	ExAC,gnomAD
NSD2	O96028	p.Tyr572Ser	rs1352496907	missense variant	-	NC_000004.12:g.1938491A>C	gnomAD
NSD2	O96028	p.Lys573Glu	rs538038976	missense variant	-	NC_000004.12:g.1938493A>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys573Thr	rs751314482	missense variant	-	NC_000004.12:g.1938494A>C	ExAC,gnomAD
NSD2	O96028	p.Ala574Thr	rs780953841	missense variant	-	NC_000004.12:g.1938496G>A	ExAC,gnomAD
NSD2	O96028	p.Ala577Thr	rs1195882701	missense variant	-	NC_000004.12:g.1938505G>A	gnomAD
NSD2	O96028	p.Ala578Gly	rs140182983	missense variant	-	NC_000004.12:g.1938509C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala578Val	rs140182983	missense variant	-	NC_000004.12:g.1938509C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser580Leu	rs746362705	missense variant	-	NC_000004.12:g.1938515C>T	ExAC,gnomAD
NSD2	O96028	p.Ala585Thr	rs1371619664	missense variant	-	NC_000004.12:g.1938529G>A	gnomAD
NSD2	O96028	p.Ala586Val	rs1390587603	missense variant	-	NC_000004.12:g.1939654C>T	TOPMed
NSD2	O96028	p.Thr587Arg	rs763851539	missense variant	-	NC_000004.12:g.1939657C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr587Met	rs763851539	missense variant	-	NC_000004.12:g.1939657C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu590Arg	rs539819179	missense variant	-	NC_000004.12:g.1939666T>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Leu590Met	rs570695212	missense variant	-	NC_000004.12:g.1939665C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys599Thr	rs1171689736	missense variant	-	NC_000004.12:g.1939693A>C	gnomAD
NSD2	O96028	p.Arg600Gln	rs1189008609	missense variant	-	NC_000004.12:g.1939696G>A	TOPMed
NSD2	O96028	p.Arg602Gln	rs1418871757	missense variant	-	NC_000004.12:g.1939702G>A	gnomAD
NSD2	O96028	p.Ala603Gly	rs748360474	missense variant	-	NC_000004.12:g.1939705C>G	ExAC,gnomAD
NSD2	O96028	p.Thr605Met	rs1213997018	missense variant	-	NC_000004.12:g.1939711C>T	-
NSD2	O96028	p.Thr605Ala	rs769950208	missense variant	-	NC_000004.12:g.1939710A>G	ExAC,gnomAD
NSD2	O96028	p.Ala606Glu	rs1030558419	missense variant	-	NC_000004.12:g.1939714C>A	TOPMed,gnomAD
NSD2	O96028	p.Ala606Thr	rs1299648042	missense variant	-	NC_000004.12:g.1939713G>A	gnomAD
NSD2	O96028	p.Ala606Val	rs1030558419	missense variant	-	NC_000004.12:g.1939714C>T	TOPMed,gnomAD
NSD2	O96028	p.Ala607Val	rs1413976698	missense variant	-	NC_000004.12:g.1939717C>T	gnomAD
NSD2	O96028	p.Ser614Asn	rs767653275	missense variant	-	NC_000004.12:g.1939738G>A	gnomAD
NSD2	O96028	p.Lys615Asn	rs770938820	missense variant	-	NC_000004.12:g.1939742A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser618Cys	rs774325375	missense variant	-	NC_000004.12:g.1939750C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser620Ala	rs759432670	missense variant	-	NC_000004.12:g.1939755T>G	ExAC,gnomAD
NSD2	O96028	p.Thr624Pro	rs1253622631	missense variant	-	NC_000004.12:g.1939767A>C	gnomAD
NSD2	O96028	p.Ser629Pro	rs764506321	missense variant	-	NC_000004.12:g.1951075T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser629Leu	rs144714547	missense variant	-	NC_000004.12:g.1951076C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp630Glu	rs778951564	missense variant	-	NC_000004.12:g.1951080C>G	ExAC
NSD2	O96028	p.Pro632Leu	rs750722330	missense variant	-	NC_000004.12:g.1951085C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp634Asn	rs780346425	missense variant	-	NC_000004.12:g.1951090G>A	ExAC,gnomAD
NSD2	O96028	p.Pro636Arg	rs150312094	missense variant	-	NC_000004.12:g.1951097C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Pro	rs781198289	missense variant	-	NC_000004.12:g.1951099T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Ala	rs781198289	missense variant	-	NC_000004.12:g.1951099T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Leu	rs201252361	missense variant	-	NC_000004.12:g.1951100C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser639Cys	rs1482224235	missense variant	-	NC_000004.12:g.1951106C>G	TOPMed
NSD2	O96028	p.Pro640Leu	rs748981823	missense variant	-	NC_000004.12:g.1951109C>T	ExAC,gnomAD
NSD2	O96028	p.Tyr641His	rs770425230	missense variant	-	NC_000004.12:g.1951111T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu642Val	rs759061394	missense variant	-	NC_000004.12:g.1951115A>T	ExAC,gnomAD
NSD2	O96028	p.Glu642Gly	rs759061394	missense variant	-	NC_000004.12:g.1951115A>G	ExAC,gnomAD
NSD2	O96028	p.Val651Leu	rs1383119383	missense variant	-	NC_000004.12:g.1951141G>C	TOPMed
NSD2	O96028	p.Val651Ala	rs1328580847	missense variant	-	NC_000004.12:g.1951142T>C	gnomAD
NSD2	O96028	p.Glu659Gly	rs1398214715	missense variant	-	NC_000004.12:g.1951166A>G	TOPMed
NSD2	O96028	p.Arg660Gln	rs1355063646	missense variant	-	NC_000004.12:g.1951169G>A	gnomAD
NSD2	O96028	p.Gly661Val	rs758747210	missense variant	-	NC_000004.12:g.1951172G>T	ExAC,gnomAD
NSD2	O96028	p.Val662Ala	rs1400681386	missense variant	-	NC_000004.12:g.1951175T>C	TOPMed
NSD2	O96028	p.Ala664Val	rs766717444	missense variant	-	NC_000004.12:g.1951181C>T	ExAC,gnomAD
NSD2	O96028	p.Lys665Arg	rs143388708	missense variant	-	NC_000004.12:g.1951184A>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr668Cys	rs1308986047	missense variant	-	NC_000004.12:g.1951193A>G	TOPMed,gnomAD
NSD2	O96028	p.Val669Met	rs1362563185	missense variant	-	NC_000004.12:g.1951195G>A	TOPMed
NSD2	O96028	p.Leu672Val	rs1448727938	missense variant	-	NC_000004.12:g.1952108C>G	TOPMed
NSD2	O96028	p.Pro676Ser	rs943227424	missense variant	-	NC_000004.12:g.1952120C>T	-
NSD2	O96028	p.Pro676Leu	rs773890550	missense variant	-	NC_000004.12:g.1952121C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser678Asn	rs1277336806	missense variant	-	NC_000004.12:g.1952127G>A	gnomAD
NSD2	O96028	p.Leu679Phe	rs1349584955	missense variant	-	NC_000004.12:g.1952129C>T	gnomAD
NSD2	O96028	p.Leu680Pro	rs774410104	missense variant	-	NC_000004.12:g.1952133T>C	ExAC,gnomAD
NSD2	O96028	p.Ala693Thr	rs760749890	missense variant	-	NC_000004.12:g.1952171G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg699Trp	rs763969166	missense variant	-	NC_000004.12:g.1952189C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly703Arg	rs757015702	missense variant	-	NC_000004.12:g.1952201G>A	ExAC,gnomAD
NSD2	O96028	p.Gly703Val	rs1390978369	missense variant	-	NC_000004.12:g.1952202G>T	gnomAD
NSD2	O96028	p.Glu709Lys	rs369991547	missense variant	-	NC_000004.12:g.1952219G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile714Asn	rs1302175161	missense variant	-	NC_000004.12:g.1953327T>A	gnomAD
NSD2	O96028	p.Ser716Pro	rs748174351	missense variant	-	NC_000004.12:g.1953332T>C	ExAC,gnomAD
NSD2	O96028	p.Val719Leu	rs200415868	missense variant	-	NC_000004.12:g.1953341G>C	1000Genomes
NSD2	O96028	p.Ser723Arg	rs762870190	missense variant	-	NC_000004.12:g.1953355C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr725Ala	rs1251092560	missense variant	-	NC_000004.12:g.1953359A>G	TOPMed,gnomAD
NSD2	O96028	p.Thr725Ile	rs1201830073	missense variant	-	NC_000004.12:g.1953360C>T	TOPMed
NSD2	O96028	p.Val727Leu	rs766187206	missense variant	-	NC_000004.12:g.1953365G>C	ExAC,gnomAD
NSD2	O96028	p.Arg729Gly	rs1194038054	missense variant	-	NC_000004.12:g.1953371C>G	gnomAD
NSD2	O96028	p.Val731Ala	rs927209802	missense variant	-	NC_000004.12:g.1953378T>C	TOPMed
NSD2	O96028	p.Val731Met	rs370713472	missense variant	-	NC_000004.12:g.1953377G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Thr733Pro	rs1280676418	missense variant	-	NC_000004.12:g.1953383A>C	TOPMed
NSD2	O96028	p.Gln734Lys	rs1235457134	missense variant	-	NC_000004.12:g.1953386C>A	TOPMed
NSD2	O96028	p.Glu741Val	rs1157710629	missense variant	-	NC_000004.12:g.1953408A>T	gnomAD
NSD2	O96028	p.Ala742Gly	rs1458389813	missense variant	-	NC_000004.12:g.1953411C>G	gnomAD
NSD2	O96028	p.Ala742Ser	rs767239709	missense variant	-	NC_000004.12:g.1953410G>T	ExAC,gnomAD
NSD2	O96028	p.Lys746Ile	rs755618120	missense variant	-	NC_000004.12:g.1953423A>T	ExAC,gnomAD
NSD2	O96028	p.Tyr747Phe	rs1440615250	missense variant	-	NC_000004.12:g.1953426A>T	gnomAD
NSD2	O96028	p.Phe752Ser	rs750927886	missense variant	-	NC_000004.12:g.1953441T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Phe752Leu	rs763576743	missense variant	-	NC_000004.12:g.1953440T>C	ExAC,gnomAD
NSD2	O96028	p.Ser754Arg	rs1306585669	missense variant	-	NC_000004.12:g.1953448C>G	gnomAD
NSD2	O96028	p.Arg758Ser	rs1329886619	missense variant	-	NC_000004.12:g.1953458C>A	gnomAD
NSD2	O96028	p.Pro760Ala	rs952088696	missense variant	-	NC_000004.12:g.1953464C>G	TOPMed
NSD2	O96028	p.Ser766Asn	rs1222020519	missense variant	-	NC_000004.12:g.1953483G>A	gnomAD
NSD2	O96028	p.Ser766Thr	rs1222020519	missense variant	-	NC_000004.12:g.1953483G>C	gnomAD
NSD2	O96028	p.Ala769Thr	rs991357362	missense variant	-	NC_000004.12:g.1953491G>A	TOPMed
NSD2	O96028	p.Pro772Ser	rs781367586	missense variant	-	NC_000004.12:g.1953500C>T	ExAC,gnomAD
NSD2	O96028	p.Asn774Tyr	rs748411778	missense variant	-	NC_000004.12:g.1953506A>T	ExAC,gnomAD
NSD2	O96028	p.Pro775Thr	rs540859268	missense variant	-	NC_000004.12:g.1953509C>A	gnomAD
NSD2	O96028	p.Pro775Ser	rs540859268	missense variant	-	NC_000004.12:g.1953509C>T	gnomAD
NSD2	O96028	p.Pro777Ser	rs562252470	missense variant	-	NC_000004.12:g.1953515C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro777Ala	rs562252470	missense variant	-	NC_000004.12:g.1953515C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro777Leu	rs1192456885	missense variant	-	NC_000004.12:g.1953516C>T	TOPMed
NSD2	O96028	p.Ser778Leu	rs374024971	missense variant	-	NC_000004.12:g.1953519C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg784Gln	rs1239708011	missense variant	-	NC_000004.12:g.1955173G>A	gnomAD
NSD2	O96028	p.Val786Ile	rs548145434	missense variant	-	NC_000004.12:g.1955178G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val790Ile	rs761204359	missense variant	-	NC_000004.12:g.1955190G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr792Phe	rs752059206	missense variant	-	NC_000004.12:g.1955197A>T	ExAC,gnomAD
NSD2	O96028	p.Ser794Gly	rs760095870	missense variant	-	NC_000004.12:g.1955202A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly795Arg	rs1190376594	missense variant	-	NC_000004.12:g.1955205G>A	TOPMed
NSD2	O96028	p.Val805Ala	rs144335923	missense variant	-	NC_000004.12:g.1955236T>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val805Ala	RCV000261891	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1955236T>C	ClinVar
NSD2	O96028	p.Ala807Thr	rs143360610	missense variant	-	NC_000004.12:g.1955241G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser808Cys	rs757383616	missense variant	-	NC_000004.12:g.1955245C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asn809Ser	rs1220682081	missense variant	-	NC_000004.12:g.1955248A>G	TOPMed
NSD2	O96028	p.Ile812Val	rs1445749183	missense variant	-	NC_000004.12:g.1955256A>G	gnomAD
NSD2	O96028	p.Thr818Ala	rs779189829	missense variant	-	NC_000004.12:g.1955274A>G	ExAC,gnomAD
NSD2	O96028	p.Arg820Gln	rs758343111	missense variant	-	NC_000004.12:g.1955281G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg820Trp	rs745957331	missense variant	-	NC_000004.12:g.1955280C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys821Gln	rs980280785	missense variant	-	NC_000004.12:g.1955283A>C	TOPMed
NSD2	O96028	p.Lys823Arg	rs1435819330	missense variant	-	NC_000004.12:g.1955290A>G	gnomAD
NSD2	O96028	p.His825Gln	rs748922675	missense variant	-	NC_000004.12:g.1955297C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His826Leu	rs1478502518	missense variant	-	NC_000004.12:g.1955299A>T	gnomAD
NSD2	O96028	p.Ala827Val	rs747861024	missense variant	-	NC_000004.12:g.1955302C>T	ExAC,gnomAD
NSD2	O96028	p.Ala827Thr	rs776114283	missense variant	-	NC_000004.12:g.1955301G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val829Ile	rs146318719	missense variant	-	NC_000004.12:g.1955307G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Ser832Asn	rs1170253779	missense variant	-	NC_000004.12:g.1955317G>A	TOPMed
NSD2	O96028	p.Val836Met	rs139637100	missense variant	-	NC_000004.12:g.1955328G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val836Leu	rs139637100	missense variant	-	NC_000004.12:g.1955328G>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys839Glu	rs757494380	missense variant	-	NC_000004.12:g.1955337A>G	ExAC,gnomAD
NSD2	O96028	p.Ile860Phe	rs1337213459	missense variant	-	NC_000004.12:g.1955752A>T	TOPMed,gnomAD
NSD2	O96028	p.Glu861Gly	rs1309496969	missense variant	-	NC_000004.12:g.1955756A>G	gnomAD
NSD2	O96028	p.Glu861Lys	rs1422388271	missense variant	-	NC_000004.12:g.1955755G>A	TOPMed
NSD2	O96028	p.Met862Thr	rs1352976948	missense variant	-	NC_000004.12:g.1955759T>C	TOPMed,gnomAD
NSD2	O96028	p.Asp864Asn	rs748981703	missense variant	-	NC_000004.12:g.1955764G>A	ExAC,gnomAD
NSD2	O96028	p.Gly865Ser	rs1281027436	missense variant	-	NC_000004.12:g.1955767G>A	gnomAD
NSD2	O96028	p.Ser866Ile	rs377249050	missense variant	-	NC_000004.12:g.1955771G>T	ESP,ExAC,gnomAD
NSD2	O96028	p.Cys869Arg	rs1553876452	missense variant	-	NC_000004.12:g.1955779T>C	-
NSD2	O96028	p.Cys869Arg	RCV000622646	missense variant	Inborn genetic diseases	NC_000004.12:g.1955779T>C	ClinVar
NSD2	O96028	p.Asn870Ser	rs1268825335	missense variant	-	NC_000004.12:g.1955783A>G	gnomAD
NSD2	O96028	p.Arg873Lys	rs1341691783	missense variant	-	NC_000004.12:g.1955792G>A	gnomAD
NSD2	O96028	p.His879Arg	rs1485302063	missense variant	-	NC_000004.12:g.1955810A>G	gnomAD
NSD2	O96028	p.Phe880Tyr	rs777295950	missense variant	-	NC_000004.12:g.1955813T>A	ExAC,gnomAD
NSD2	O96028	p.Phe880Leu	rs1484701021	missense variant	-	NC_000004.12:g.1955814C>G	gnomAD
NSD2	O96028	p.Ile883Thr	rs762245596	missense variant	-	NC_000004.12:g.1955822T>C	ExAC,gnomAD
NSD2	O96028	p.Ile884Val	rs369572952	missense variant	-	NC_000004.12:g.1955824A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro906Leu	rs145631870	missense variant	-	NC_000004.12:g.1956024C>T	ESP,ExAC,TOPMed
NSD2	O96028	p.Ile915Val	rs1432275472	missense variant	-	NC_000004.12:g.1956050A>G	gnomAD
NSD2	O96028	p.Lys926Gln	rs1257240726	missense variant	-	NC_000004.12:g.1956083A>C	TOPMed
NSD2	O96028	p.Thr931Met	rs767627490	missense variant	-	NC_000004.12:g.1956099C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His932Tyr	rs760665991	missense variant	-	NC_000004.12:g.1956101C>T	ExAC,gnomAD
NSD2	O96028	p.Ala934Val	rs1388626156	missense variant	-	NC_000004.12:g.1956108C>T	gnomAD
NSD2	O96028	p.Pro938Leu	rs200311175	missense variant	-	NC_000004.12:g.1956120C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Met940Arg	rs764917391	missense variant	-	NC_000004.12:g.1956126T>G	ExAC,gnomAD
NSD2	O96028	p.Met940Val	rs1313958361	missense variant	-	NC_000004.12:g.1956125A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu941Gly	rs750083545	missense variant	-	NC_000004.12:g.1956129A>G	ExAC
NSD2	O96028	p.Glu941Asp	rs1329849826	missense variant	-	NC_000004.12:g.1956130G>T	TOPMed,gnomAD
NSD2	O96028	p.Asp943Gly	rs757920884	missense variant	-	NC_000004.12:g.1956135A>G	ExAC,gnomAD
NSD2	O96028	p.Asp943Ala	rs757920884	missense variant	-	NC_000004.12:g.1956135A>C	ExAC,gnomAD
NSD2	O96028	p.Arg944Gly	rs746529986	missense variant	-	NC_000004.12:g.1956137C>G	ExAC,gnomAD
NSD2	O96028	p.Arg944Gln	RCV000371835	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1956138G>A	ClinVar
NSD2	O96028	p.Arg944Gln	rs756624618	missense variant	-	NC_000004.12:g.1956138G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg944Leu	rs756624618	missense variant	-	NC_000004.12:g.1956138G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly945Ala	rs771249310	missense variant	-	NC_000004.12:g.1956141G>C	ExAC
NSD2	O96028	p.Gly945Arg	rs749617066	missense variant	-	NC_000004.12:g.1956140G>C	ExAC,gnomAD
NSD2	O96028	p.Arg947His	rs1157864395	missense variant	-	NC_000004.12:g.1956147G>A	gnomAD
NSD2	O96028	p.Arg947Cys	rs943974282	missense variant	-	NC_000004.12:g.1956146C>T	gnomAD
NSD2	O96028	p.Gly950Ala	rs1411838742	missense variant	-	NC_000004.12:g.1956156G>C	gnomAD
NSD2	O96028	p.Gly950Arg	rs1428724943	missense variant	-	NC_000004.12:g.1956155G>C	TOPMed
NSD2	O96028	p.Gly955Arg	rs934745655	missense variant	-	NC_000004.12:g.1956170G>A	gnomAD
NSD2	O96028	p.Lys959Arg	rs772127940	missense variant	-	NC_000004.12:g.1956183A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln963His	rs137974842	missense variant	-	NC_000004.12:g.1957940A>T	ESP,TOPMed,gnomAD
NSD2	O96028	p.Ala965Thr	rs779205776	missense variant	-	NC_000004.12:g.1957944G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala967Thr	rs746260679	missense variant	-	NC_000004.12:g.1957950G>A	ExAC,gnomAD
NSD2	O96028	p.Arg968His	RCV000623054	missense variant	Inborn genetic diseases	NC_000004.12:g.1957954G>A	ClinVar
NSD2	O96028	p.Arg968His	rs1553876858	missense variant	-	NC_000004.12:g.1957954G>A	-
NSD2	O96028	p.Arg970His	rs780274468	missense variant	-	NC_000004.12:g.1957960G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg970Cys	rs772239992	missense variant	-	NC_000004.12:g.1957959C>T	ExAC,gnomAD
NSD2	O96028	p.Arg979Ter	rs548600548	stop gained	-	NC_000004.12:g.1957986C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Gln982Glu	rs1472780335	missense variant	-	NC_000004.12:g.1957995C>G	gnomAD
NSD2	O96028	p.Glu985Lys	rs1416347752	missense variant	-	NC_000004.12:g.1958004G>A	gnomAD
NSD2	O96028	p.Pro989Leu	rs1286095958	missense variant	-	NC_000004.12:g.1958017C>T	TOPMed
NSD2	O96028	p.Lys998Glu	rs1309075149	missense variant	-	NC_000004.12:g.1959477A>G	gnomAD
NSD2	O96028	p.Tyr1000His	rs1291181242	missense variant	-	NC_000004.12:g.1959483T>C	TOPMed
NSD2	O96028	p.Gln1004Glu	rs1344700826	missense variant	-	NC_000004.12:g.1959495C>G	TOPMed
NSD2	O96028	p.Ile1005Leu	rs1018801461	missense variant	-	NC_000004.12:g.1959498A>C	TOPMed
NSD2	O96028	p.Tyr1006His	rs142100377	missense variant	-	NC_000004.12:g.1959501T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1008Gly	rs758754683	missense variant	-	NC_000004.12:g.1959508C>G	ExAC,gnomAD
NSD2	O96028	p.Ala1008Val	rs758754683	missense variant	-	NC_000004.12:g.1959508C>T	ExAC,gnomAD
NSD2	O96028	p.Pro1014Ala	rs972287878	missense variant	-	NC_000004.12:g.1959525C>G	TOPMed
NSD2	O96028	p.Thr1021Ala	rs1272076193	missense variant	-	NC_000004.12:g.1959546A>G	TOPMed,gnomAD
NSD2	O96028	p.Ser1030Ala	rs1409623677	missense variant	-	NC_000004.12:g.1959573T>G	gnomAD
NSD2	O96028	p.Pro1043Ala	rs1322396712	missense variant	-	NC_000004.12:g.1959612C>G	gnomAD
NSD2	O96028	p.Ala1048Val	rs745664737	missense variant	-	NC_000004.12:g.1959628C>T	ExAC,gnomAD
NSD2	O96028	p.Ala1048Thr	rs774234132	missense variant	-	NC_000004.12:g.1959627G>A	ExAC,gnomAD
NSD2	O96028	p.Glu1050Lys	rs1047838051	missense variant	-	NC_000004.12:g.1959633G>A	TOPMed,gnomAD
NSD2	O96028	p.Phe1051Tyr	rs1213391191	missense variant	-	NC_000004.12:g.1959637T>A	TOPMed
NSD2	O96028	p.Gln1061Arg	rs763723156	missense variant	-	NC_000004.12:g.1959667A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1066Arg	rs773691968	missense variant	-	NC_000004.12:g.1959682A>G	ExAC,gnomAD
NSD2	O96028	p.Ile1068Thr	rs1420145115	missense variant	-	NC_000004.12:g.1959688T>C	TOPMed,gnomAD
NSD2	O96028	p.Ala1079Thr	rs771867435	missense variant	-	NC_000004.12:g.1959720G>A	ExAC,gnomAD
NSD2	O96028	p.Ala1079Gly	rs1374595557	missense variant	-	NC_000004.12:g.1959721C>G	TOPMed
NSD2	O96028	p.Lys1080Arg	rs1162500705	missense variant	-	NC_000004.12:g.1959724A>G	gnomAD
NSD2	O96028	p.Arg1081Ser	rs756144891	missense variant	-	NC_000004.12:g.1959728G>T	ExAC,gnomAD
NSD2	O96028	p.Arg1084Thr	rs924346177	missense variant	-	NC_000004.12:g.1959736G>C	TOPMed
NSD2	O96028	p.Lys1085Asn	rs778057489	missense variant	-	NC_000004.12:g.1959740G>T	ExAC,gnomAD
NSD2	O96028	p.Glu1087Val	rs1256794829	missense variant	-	NC_000004.12:g.1961039A>T	gnomAD
NSD2	O96028	p.Val1093Ile	rs1440755101	missense variant	-	NC_000004.12:g.1961056G>A	TOPMed
NSD2	O96028	p.Asp1098Asn	rs1255636324	missense variant	-	NC_000004.12:g.1961071G>A	TOPMed
NSD2	O96028	p.Glu1099Lys	rs772470710	missense variant	-	NC_000004.12:g.1961074G>A	ExAC,gnomAD
NSD2	O96028	p.His1110Gln	rs754150618	missense variant	-	NC_000004.12:g.1961109C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp1113Asn	rs750479519	missense variant	-	NC_000004.12:g.1961116G>A	ExAC,gnomAD
NSD2	O96028	p.His1116Tyr	rs1295039148	missense variant	-	NC_000004.12:g.1961125C>T	TOPMed
NSD2	O96028	p.Ile1122Val	rs751318500	missense variant	-	NC_000004.12:g.1961143A>G	ExAC,gnomAD
NSD2	O96028	p.Pro1132Arg	rs778377665	missense variant	-	NC_000004.12:g.1974885C>G	ExAC,gnomAD
NSD2	O96028	p.Leu1151Phe	rs1251315025	missense variant	-	NC_000004.12:g.1974941C>T	TOPMed
NSD2	O96028	p.Arg1160Cys	rs1380951165	missense variant	-	NC_000004.12:g.1974968C>T	gnomAD
NSD2	O96028	p.Val1166Ile	rs375277590	missense variant	-	NC_000004.12:g.1974986G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp1168His	rs1460279946	missense variant	-	NC_000004.12:g.1974992G>C	TOPMed
NSD2	O96028	p.Ala1171Glu	rs769777776	missense variant	-	NC_000004.12:g.1975002C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1172Glu	rs770661384	missense variant	-	NC_000004.12:g.1975294G>A	ExAC,gnomAD
NSD2	O96028	p.Thr1173Met	rs201530243	missense variant	-	NC_000004.12:g.1975297C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr1173Ser	rs1285311675	missense variant	-	NC_000004.12:g.1975296A>T	TOPMed
NSD2	O96028	p.Thr1173Arg	rs201530243	missense variant	-	NC_000004.12:g.1975297C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1187Asp	rs1384015236	missense variant	-	NC_000004.12:g.1975340A>C	TOPMed,gnomAD
NSD2	O96028	p.Thr1189Met	rs758809828	missense variant	-	NC_000004.12:g.1975345C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1192Trp	rs751874982	missense variant	-	NC_000004.12:g.1975353C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1208Ile	rs1264602948	missense variant	-	NC_000004.12:g.1976476C>T	gnomAD
NSD2	O96028	p.Ser1209Leu	rs777823476	missense variant	-	NC_000004.12:g.1976479C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1210Met	rs756992765	missense variant	-	NC_000004.12:g.1976482C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1211Asn	rs878870013	missense variant	-	NC_000004.12:g.1976485C>A	gnomAD
NSD2	O96028	p.Thr1211Ser	rs778715134	missense variant	-	NC_000004.12:g.1976484A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu1212Val	rs945268423	missense variant	-	NC_000004.12:g.1976487C>G	TOPMed
NSD2	O96028	p.Glu1215Asp	rs1416610820	missense variant	-	NC_000004.12:g.1976498G>C	TOPMed
NSD2	O96028	p.Glu1216Lys	rs1423726760	missense variant	-	NC_000004.12:g.1976499G>A	TOPMed
NSD2	O96028	p.Glu1216Gly	rs1290861908	missense variant	-	NC_000004.12:g.1976500A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1216Val	rs1290861908	missense variant	-	NC_000004.12:g.1976500A>T	TOPMed,gnomAD
NSD2	O96028	p.Lys1220Met	rs746488285	missense variant	-	NC_000004.12:g.1976512A>T	ExAC,gnomAD
NSD2	O96028	p.Thr1221Ile	rs144327097	missense variant	-	NC_000004.12:g.1976515C>T	ESP,ExAC,gnomAD
NSD2	O96028	p.Thr1225Met	rs754405808	missense variant	-	NC_000004.12:g.1976527C>T	TOPMed
NSD2	O96028	p.Gly1232Arg	rs1256308174	missense variant	-	NC_000004.12:g.1976547G>A	TOPMed
NSD2	O96028	p.Glu1233Lys	rs1305960757	missense variant	-	NC_000004.12:g.1976550G>A	gnomAD
NSD2	O96028	p.Gly1234Arg	rs1317326083	missense variant	-	NC_000004.12:g.1976553G>A	gnomAD
NSD2	O96028	p.Gly1234Glu	rs773694055	missense variant	-	NC_000004.12:g.1976554G>A	ExAC,gnomAD
NSD2	O96028	p.Gln1237Arg	rs763391838	missense variant	-	NC_000004.12:g.1976563A>G	ExAC,gnomAD
NSD2	O96028	p.Glu1241Lys	rs774737951	missense variant	-	NC_000004.12:g.1976574G>A	ExAC,gnomAD
NSD2	O96028	p.Glu1241Gln	rs774737951	missense variant	-	NC_000004.12:g.1976574G>C	ExAC,gnomAD
NSD2	O96028	p.Arg1244His	rs1420066426	missense variant	-	NC_000004.12:g.1976584G>A	gnomAD
NSD2	O96028	p.Arg1244Cys	rs376629334	missense variant	-	NC_000004.12:g.1976583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1246Ser	rs1424067803	missense variant	-	NC_000004.12:g.1976589G>A	gnomAD
NSD2	O96028	p.Gly1249Arg	rs1367549846	missense variant	-	NC_000004.12:g.1976598G>A	gnomAD
NSD2	O96028	p.Gly1249Glu	rs1439876719	missense variant	-	NC_000004.12:g.1976599G>A	gnomAD
NSD2	O96028	p.Arg1256His	rs901340615	missense variant	-	NC_000004.12:g.1976620G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1262Val	rs1467938486	missense variant	-	NC_000004.12:g.1976638C>T	TOPMed
NSD2	O96028	p.Ser1266Cys	rs779674908	missense variant	-	NC_000004.12:g.1976650C>G	ExAC,gnomAD
NSD2	O96028	p.Arg1273Gln	rs1166649020	missense variant	-	NC_000004.12:g.1976671G>A	TOPMed,gnomAD
NSD2	O96028	p.Pro1274Leu	rs1251301694	missense variant	-	NC_000004.12:g.1976674C>T	TOPMed,gnomAD
NSD2	O96028	p.Phe1275Ile	rs1457835886	missense variant	-	NC_000004.12:g.1976676T>A	TOPMed
NSD2	O96028	p.Glu1279Asp	rs146059943	missense variant	-	NC_000004.12:g.1978648A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1291Leu	rs768972964	missense variant	-	NC_000004.12:g.1978683C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1294Leu	rs761945829	missense variant	-	NC_000004.12:g.1978692C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu1298Phe	rs1035199365	missense variant	-	NC_000004.12:g.1978703C>T	gnomAD
NSD2	O96028	p.Leu1298Val	rs1035199365	missense variant	-	NC_000004.12:g.1978703C>G	gnomAD
NSD2	O96028	p.Asn1301Ser	rs751306053	missense variant	-	NC_000004.12:g.1978713A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Phe1303Leu	rs767126550	missense variant	-	NC_000004.12:g.1978720C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1305Glu	rs1232165839	missense variant	-	NC_000004.12:g.1978724A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1306Gln	rs1346394191	missense variant	-	NC_000004.12:g.1978727G>C	gnomAD
NSD2	O96028	p.Gln1308His	rs752348506	missense variant	-	NC_000004.12:g.1978735G>C	ExAC,gnomAD
NSD2	O96028	p.Asp1309His	rs755643031	missense variant	-	NC_000004.12:g.1978736G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1310Glu	rs777078587	missense variant	-	NC_000004.12:g.1978740G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr1311Ala	rs142278631	missense variant	-	NC_000004.12:g.1978742A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1312Val	rs780733114	missense variant	-	NC_000004.12:g.1978746C>T	ExAC,gnomAD
NSD2	O96028	p.Ala1312Thr	rs515582	missense variant	-	NC_000004.12:g.1978745G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1312Ser	rs515582	missense variant	-	NC_000004.12:g.1978745G>T	TOPMed,gnomAD
NSD2	O96028	p.Phe1313Leu	rs1220405765	missense variant	-	NC_000004.12:g.1978748T>C	gnomAD
NSD2	O96028	p.Ser1314Arg	rs1418175764	missense variant	-	NC_000004.12:g.1978751A>C	TOPMed,gnomAD
NSD2	O96028	p.Ser1314Gly	rs1418175764	missense variant	-	NC_000004.12:g.1978751A>G	TOPMed,gnomAD
NSD2	O96028	p.Thr1316Ser	rs1268072056	missense variant	-	NC_000004.12:g.1978758C>G	gnomAD
NSD2	O96028	p.Pro1317Arg	rs769203933	missense variant	-	NC_000004.12:g.1978761C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1317Leu	rs769203933	missense variant	-	NC_000004.12:g.1978761C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1320Trp	rs151213547	missense variant	-	NC_000004.12:g.1978769C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1320Gln	rs773117985	missense variant	-	NC_000004.12:g.1978770G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1321Pro	rs763053114	missense variant	-	NC_000004.12:g.1978772T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1321Phe	rs951676878	missense variant	-	NC_000004.12:g.1978773C>T	gnomAD
NSD2	O96028	p.Cys1323Ser	rs759312671	missense variant	-	NC_000004.12:g.1978779G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Cys1323Tyr	rs759312671	missense variant	-	NC_000004.12:g.1978779G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1325Gly	rs985805727	missense variant	-	NC_000004.12:g.1978785A>G	gnomAD
NSD2	O96028	p.His1326Gln	rs752539028	missense variant	-	NC_000004.12:g.1978789T>G	ExAC,gnomAD
NSD2	O96028	p.His1326Tyr	rs1280330106	missense variant	-	NC_000004.12:g.1978787C>T	gnomAD
NSD2	O96028	p.Asp1327His	rs1244088714	missense variant	-	NC_000004.12:g.1978790G>C	gnomAD
NSD2	O96028	p.Asp1327Glu	rs1291087144	missense variant	-	NC_000004.12:g.1978792C>G	TOPMed,gnomAD
NSD2	O96028	p.Gly1329Ala	rs1161045853	missense variant	-	NC_000004.12:g.1978797G>C	TOPMed,gnomAD
NSD2	O96028	p.Gly1329Glu	rs1161045853	missense variant	-	NC_000004.12:g.1978797G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1330Val	rs760185069	missense variant	-	NC_000004.12:g.1978800C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1330Thr	rs965788333	missense variant	-	NC_000004.12:g.1978799G>A	TOPMed
NSD2	O96028	p.Ala1331Val	rs200615147	missense variant	-	NC_000004.12:g.1978803C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1332Leu	rs561070783	missense variant	-	NC_000004.12:g.1978806C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val1333Ala	rs755548968	missense variant	-	NC_000004.12:g.1978809T>C	ExAC,gnomAD
NSD2	O96028	p.Arg1334Gly	rs1459045548	missense variant	-	NC_000004.12:g.1978811A>G	TOPMed,gnomAD
NSD2	O96028	p.Ser1335Arg	rs934528153	missense variant	-	NC_000004.12:g.1978816C>G	gnomAD
NSD2	O96028	p.Thr1336Ser	rs769868346	missense variant	-	NC_000004.12:g.1978818C>G	ExAC,gnomAD
NSD2	O96028	p.Thr1336Ile	rs769868346	missense variant	-	NC_000004.12:g.1978818C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1336Pro	rs139213191	missense variant	-	NC_000004.12:g.1978817A>C	ESP,ExAC
NSD2	O96028	p.Thr1338Ile	rs1033243246	missense variant	-	NC_000004.12:g.1978824C>T	TOPMed
NSD2	O96028	p.Thr1338Ala	rs998624369	missense variant	-	NC_000004.12:g.1978823A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1339Lys	rs749348112	missense variant	-	NC_000004.12:g.1978826G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1340Asn	rs199956960	missense variant	-	NC_000004.12:g.1978831G>T	ESP,ExAC,TOPMed
NSD2	O96028	p.Lys1340Asn	rs199956960	missense variant	-	NC_000004.12:g.1978831G>C	ESP,ExAC,TOPMed
NSD2	O96028	p.Pro1341Thr	rs914518920	missense variant	-	NC_000004.12:g.1978832C>A	TOPMed,gnomAD
NSD2	O96028	p.Pro1341Ala	rs914518920	missense variant	-	NC_000004.12:g.1978832C>G	TOPMed,gnomAD
NSD2	O96028	p.Pro1341His	rs774265779	missense variant	-	NC_000004.12:g.1978833C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1341Arg	rs774265779	missense variant	-	NC_000004.12:g.1978833C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1341Leu	rs774265779	missense variant	-	NC_000004.12:g.1978833C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Arg	rs201619712	missense variant	-	NC_000004.12:g.1978836C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Leu	rs201619712	missense variant	-	NC_000004.12:g.1978836C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Thr	rs535066596	missense variant	-	NC_000004.12:g.1978835C>A	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342His	rs201619712	missense variant	-	NC_000004.12:g.1978836C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Ser	rs535066596	missense variant	-	NC_000004.12:g.1978835C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Arg	rs368799821	missense variant	-	NC_000004.12:g.1978839C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Leu	rs368799821	missense variant	-	NC_000004.12:g.1978839C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Gln	rs368799821	missense variant	-	NC_000004.12:g.1978839C>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Ala	rs142054662	missense variant	-	NC_000004.12:g.1978838C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Thr	rs142054662	missense variant	-	NC_000004.12:g.1978838C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Ser	rs142054662	missense variant	-	NC_000004.12:g.1978838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1344Lys	rs950025435	missense variant	-	NC_000004.12:g.1978841G>A	TOPMed,gnomAD
NSD2	O96028	p.Glu1344Gly	rs552288309	missense variant	-	NC_000004.12:g.1978842A>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Pro1345Ser	rs745966514	missense variant	-	NC_000004.12:g.1978844C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1345Ala	rs745966514	missense variant	-	NC_000004.12:g.1978844C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1347Asn	rs1172013755	missense variant	-	NC_000004.12:g.1978852G>C	gnomAD
NSD2	O96028	p.Pro1348Leu	rs370127436	missense variant	-	NC_000004.12:g.1978854C>T	ESP,TOPMed
NSD2	O96028	p.Lys1349Met	rs775533504	missense variant	-	NC_000004.12:g.1978857A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1349Asn	rs746770939	missense variant	-	NC_000004.12:g.1978858G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1351Thr	rs569412351	missense variant	-	NC_000004.12:g.1978863A>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1351Met	rs569412351	missense variant	-	NC_000004.12:g.1978863A>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1353Gln	rs1379056879	missense variant	-	NC_000004.12:g.1978869G>A	TOPMed
NSD2	O96028	p.Arg1353Trp	rs761501519	missense variant	-	NC_000004.12:g.1978868C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1354Gln	rs903302389	missense variant	-	NC_000004.12:g.1978872G>A	TOPMed,gnomAD
NSD2	O96028	p.Arg1355Trp	rs201148179	missense variant	-	NC_000004.12:g.1978874C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1355Pro	rs1280034307	missense variant	-	NC_000004.12:g.1978875G>C	TOPMed,gnomAD
NSD2	O96028	p.Arg1355Gln	rs1280034307	missense variant	-	NC_000004.12:g.1978875G>A	TOPMed,gnomAD
NSD2	O96028	p.Arg1356Lys	rs762564946	missense variant	-	NC_000004.12:g.1978878G>A	ExAC,gnomAD
NSD2	O96028	p.Gly1357Ser	rs767888998	missense variant	-	NC_000004.12:g.1978880G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1357Ala	rs753305456	missense variant	-	NC_000004.12:g.1978881G>C	ExAC,gnomAD
NSD2	O96028	p.Gly1357Asp	rs753305456	missense variant	-	NC_000004.12:g.1978881G>A	ExAC,gnomAD
NSD2	O96028	p.Trp1358Ter	rs1553881444	stop gained	-	NC_000004.12:g.1978885G>A	-
NSD2	O96028	p.Trp1358Ter	RCV000500590	nonsense	-	NC_000004.12:g.1978885G>A	ClinVar
NSD2	O96028	p.Arg1359Gly	rs764374372	missense variant	-	NC_000004.12:g.1978886C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1359Trp	rs764374372	missense variant	-	NC_000004.12:g.1978886C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val1361Ile	rs757420003	missense variant	-	NC_000004.12:g.1978892G>A	ExAC,gnomAD
NSD2	O96028	p.Val1361Ala	rs997272577	missense variant	-	NC_000004.12:g.1978893T>C	TOPMed
NSD2	O96028	p.Gly1364Cys	rs548852837	missense variant	-	NC_000004.12:g.1978901G>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1364Ser	rs548852837	missense variant	-	NC_000004.12:g.1978901G>A	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1365Glu	rs758550808	missense variant	-	NC_000004.12:g.1978904A>G	ExAC,gnomAD
NSD2	O96028	p.Phe3Leu	rs917196718	missense variant	-	NC_000004.12:g.1900663T>G	TOPMed
NSD2	O96028	p.Ser4Asn	rs753120179	missense variant	-	NC_000004.12:g.1900665G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser4Asn	RCV000273154	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900665G>A	ClinVar
NSD2	O96028	p.Gln7Glu	rs770543236	missense variant	-	NC_000004.12:g.1900673C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu10Val	rs1328532362	missense variant	-	NC_000004.12:g.1900682C>G	gnomAD
NSD2	O96028	p.Ser11Cys	rs199734752	missense variant	-	NC_000004.12:g.1900686C>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val12Leu	rs372147092	missense variant	-	NC_000004.12:g.1900688G>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser14Thr	rs769348800	missense variant	-	NC_000004.12:g.1900695G>C	ExAC,gnomAD
NSD2	O96028	p.Val16Leu	rs1350111590	missense variant	-	NC_000004.12:g.1900700G>T	gnomAD
NSD2	O96028	p.Val16Ile	rs1350111590	missense variant	-	NC_000004.12:g.1900700G>A	gnomAD
NSD2	O96028	p.Lys17Asn	rs762019994	missense variant	-	NC_000004.12:g.1900705G>C	ExAC,gnomAD
NSD2	O96028	p.Cys18Gly	rs1263717370	missense variant	-	NC_000004.12:g.1900706T>G	gnomAD
NSD2	O96028	p.Ile19Val	rs1464089790	missense variant	-	NC_000004.12:g.1900709A>G	gnomAD
NSD2	O96028	p.Lys20Asn	rs765662635	missense variant	-	NC_000004.12:g.1900714G>C	ExAC,gnomAD
NSD2	O96028	p.Gln23Glu	rs1198342544	missense variant	-	NC_000004.12:g.1900721C>G	gnomAD
NSD2	O96028	p.Pro25Thr	rs546312898	missense variant	-	NC_000004.12:g.1900727C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ile27Val	rs1362685503	missense variant	-	NC_000004.12:g.1900733A>G	gnomAD
NSD2	O96028	p.Gly29Ser	rs754895784	missense variant	-	NC_000004.12:g.1900739G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asn32Ser	rs1423297284	missense variant	-	NC_000004.12:g.1900749A>G	gnomAD
NSD2	O96028	p.Gly33Arg	rs774534172	missense variant	-	NC_000004.12:g.1900751G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys34Arg	rs1305185045	missense variant	-	NC_000004.12:g.1900755A>G	gnomAD
NSD2	O96028	p.Lys34Asn	rs777673792	missense variant	-	NC_000004.12:g.1900756G>T	ExAC,gnomAD
NSD2	O96028	p.Thr35Ala	rs748919506	missense variant	-	NC_000004.12:g.1900757A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro36Leu	rs778558019	missense variant	-	NC_000004.12:g.1900761C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu39Lys	rs1490792778	missense variant	-	NC_000004.12:g.1900769G>A	gnomAD
NSD2	O96028	p.Glu39Gly	rs1400660779	missense variant	-	NC_000004.12:g.1900770A>G	TOPMed
NSD2	O96028	p.Glu43Lys	rs1165866735	missense variant	-	NC_000004.12:g.1900781G>A	TOPMed
NSD2	O96028	p.Cys44Phe	rs1249333230	missense variant	-	NC_000004.12:g.1900785G>T	gnomAD
NSD2	O96028	p.Gln52Ter	RCV000760760	nonsense	-	NC_000004.12:g.1900808C>T	ClinVar
NSD2	O96028	p.Gln52Ter	rs748707745	stop gained	-	NC_000004.12:g.1900808C>T	ExAC,gnomAD
NSD2	O96028	p.Ser55Gly	rs770028586	missense variant	-	NC_000004.12:g.1900817A>G	ExAC,gnomAD
NSD2	O96028	p.Ser56Gly	rs773660936	missense variant	-	NC_000004.12:g.1900820A>G	ExAC,gnomAD
NSD2	O96028	p.Leu57Met	rs546522074	missense variant	-	NC_000004.12:g.1900823C>A	gnomAD
NSD2	O96028	p.Glu59Lys	rs1443100451	missense variant	-	NC_000004.12:g.1900829G>A	TOPMed
NSD2	O96028	p.Gly60Arg	rs1366552622	missense variant	-	NC_000004.12:g.1900832G>A	TOPMed,gnomAD
NSD2	O96028	p.Met62Val	rs890741591	missense variant	-	NC_000004.12:g.1900838A>G	TOPMed,gnomAD
NSD2	O96028	p.Met62Thr	rs766646098	missense variant	-	NC_000004.12:g.1900839T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly67Ser	RCV000269913	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900853G>A	ClinVar
NSD2	O96028	p.Gly67Ser	rs202235551	missense variant	-	NC_000004.12:g.1900853G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.His68Arg	rs752556934	missense variant	-	NC_000004.12:g.1900857A>G	ExAC,gnomAD
NSD2	O96028	p.Asp69Asn	rs1401743505	missense variant	-	NC_000004.12:g.1900859G>A	gnomAD
NSD2	O96028	p.Ala70Asp	rs757135156	missense variant	-	NC_000004.12:g.1900863C>A	ExAC,gnomAD
NSD2	O96028	p.Ala70Thr	rs753748334	missense variant	-	NC_000004.12:g.1900862G>A	ExAC,gnomAD
NSD2	O96028	p.Leu71Pro	rs1197242726	missense variant	-	NC_000004.12:g.1900866T>C	gnomAD
NSD2	O96028	p.Pro75Ala	rs748567663	missense variant	-	NC_000004.12:g.1900877C>G	ExAC,gnomAD
NSD2	O96028	p.Ala76Ser	rs770395467	missense variant	-	NC_000004.12:g.1900880G>T	ExAC,gnomAD
NSD2	O96028	p.Ala76Thr	rs770395467	missense variant	-	NC_000004.12:g.1900880G>A	ExAC,gnomAD
NSD2	O96028	p.Asp77Glu	rs200621548	missense variant	-	NC_000004.12:g.1900885C>G	TOPMed
NSD2	O96028	p.Asp77Asn	rs749595883	missense variant	-	NC_000004.12:g.1900883G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp81Tyr	rs771287635	missense variant	-	NC_000004.12:g.1900895G>T	ExAC,gnomAD
NSD2	O96028	p.Arg85Trp	rs201573732	missense variant	-	NC_000004.12:g.1900907C>T	ExAC,gnomAD
NSD2	O96028	p.Arg85Gln	rs759803629	missense variant	-	NC_000004.12:g.1900908G>A	ExAC,gnomAD
NSD2	O96028	p.Gly89Glu	rs772015827	missense variant	-	NC_000004.12:g.1900920G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly92Ser	rs764038848	missense variant	-	NC_000004.12:g.1900928G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala93Thr	rs761663126	missense variant	-	NC_000004.12:g.1900931G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His94Tyr	rs1260819566	missense variant	-	NC_000004.12:g.1900934C>T	gnomAD
NSD2	O96028	p.Ala96Ser	rs1263035862	missense variant	-	NC_000004.12:g.1900940G>T	gnomAD
NSD2	O96028	p.Lys97Thr	rs376638264	missense variant	-	NC_000004.12:g.1900944A>C	ESP,TOPMed,gnomAD
NSD2	O96028	p.Lys97Arg	rs376638264	missense variant	-	NC_000004.12:g.1900944A>G	ESP,TOPMed,gnomAD
NSD2	O96028	p.Lys97Gln	rs909009733	missense variant	-	NC_000004.12:g.1900943A>C	TOPMed,gnomAD
NSD2	O96028	p.Lys97Glu	rs909009733	missense variant	-	NC_000004.12:g.1900943A>G	TOPMed,gnomAD
NSD2	O96028	p.Leu98Val	rs758105062	missense variant	-	NC_000004.12:g.1900946C>G	ExAC,gnomAD
NSD2	O96028	p.Leu98Arg	rs1261446605	missense variant	-	NC_000004.12:g.1900947T>G	gnomAD
NSD2	O96028	p.Arg99Cys	rs779422565	missense variant	-	NC_000004.12:g.1900949C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg99His	rs751138696	missense variant	-	NC_000004.12:g.1900950G>A	ExAC,gnomAD
NSD2	O96028	p.Glu101Asp	rs925579283	missense variant	-	NC_000004.12:g.1900957G>C	TOPMed
NSD2	O96028	p.Ser102Thr	rs754460633	missense variant	-	NC_000004.12:g.1900958T>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser102Cys	rs778184509	missense variant	-	NC_000004.12:g.1900959C>G	ExAC,gnomAD
NSD2	O96028	p.Gln103Glu	rs749825396	missense variant	-	NC_000004.12:g.1900961C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln103Arg	rs974437164	missense variant	-	NC_000004.12:g.1900962A>G	TOPMed,gnomAD
NSD2	O96028	p.Met105Val	rs1428525782	missense variant	-	NC_000004.12:g.1900967A>G	gnomAD
NSD2	O96028	p.Lys106Glu	rs1271075487	missense variant	-	NC_000004.12:g.1900970A>G	TOPMed
NSD2	O96028	p.Gly107Arg	rs771265108	missense variant	-	NC_000004.12:g.1900973G>A	ExAC,gnomAD
NSD2	O96028	p.Ile108Phe	rs1362608884	missense variant	-	NC_000004.12:g.1900976A>T	gnomAD
NSD2	O96028	p.Pro111Arg	rs746073848	missense variant	-	NC_000004.12:g.1900986C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro111Leu	rs746073848	missense variant	-	NC_000004.12:g.1900986C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro111Thr	rs541714722	missense variant	-	NC_000004.12:g.1900985C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Pro112Thr	rs1192924102	missense variant	-	NC_000004.12:g.1900988C>A	gnomAD
NSD2	O96028	p.Pro112Arg	rs1322308834	missense variant	-	NC_000004.12:g.1900989C>G	gnomAD
NSD2	O96028	p.Thr114Ser	rs200319561	missense variant	-	NC_000004.12:g.1900995C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro116Ser	rs564864503	missense variant	-	NC_000004.12:g.1901000C>T	gnomAD
NSD2	O96028	p.Ile117Val	rs775593120	missense variant	-	NC_000004.12:g.1901003A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile117Thr	rs78479906	missense variant	-	NC_000004.12:g.1901004T>C	1000Genomes,ExAC
NSD2	O96028	p.Ser121Cys	rs1196229263	missense variant	-	NC_000004.12:g.1901016C>G	gnomAD
NSD2	O96028	p.Ser121Pro	rs1486493780	missense variant	-	NC_000004.12:g.1901015T>C	gnomAD
NSD2	O96028	p.Ile128Val	rs1175154998	missense variant	-	NC_000004.12:g.1901036A>G	gnomAD
NSD2	O96028	p.Met133Thr	rs140401180	missense variant	-	NC_000004.12:g.1901052T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly135Arg	rs765090322	missense variant	-	NC_000004.12:g.1901057G>A	ExAC,gnomAD
NSD2	O96028	p.Leu138Val	rs1421443584	missense variant	-	NC_000004.12:g.1901066C>G	gnomAD
NSD2	O96028	p.Ile143Met	rs762496382	missense variant	-	NC_000004.12:g.1901083T>G	ExAC,gnomAD
NSD2	O96028	p.Cys144Tyr	rs373286964	missense variant	-	NC_000004.12:g.1901085G>A	ESP,TOPMed
NSD2	O96028	p.Ser147Thr	rs765998236	missense variant	-	NC_000004.12:g.1901094G>C	ExAC,TOPMed
NSD2	O96028	p.Ala149Thr	rs145603828	missense variant	-	NC_000004.12:g.1901099G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val151Ala	rs754468750	missense variant	-	NC_000004.12:g.1901106T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu155Lys	rs754314502	missense variant	-	NC_000004.12:g.1901117G>A	ExAC,gnomAD
NSD2	O96028	p.Asn157Thr	rs757829574	missense variant	-	NC_000004.12:g.1901124A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly158Arg	rs779235854	missense variant	-	NC_000004.12:g.1901126G>A	ExAC,gnomAD
NSD2	O96028	p.Pro161Thr	rs568583435	missense variant	-	NC_000004.12:g.1901135C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Glu162Gln	rs758697327	missense variant	-	NC_000004.12:g.1901138G>C	ExAC,gnomAD
NSD2	O96028	p.Asn163Lys	rs780286540	missense variant	-	NC_000004.12:g.1901143C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala165Val	rs373161300	missense variant	-	NC_000004.12:g.1901148C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg167Ser	rs1324420839	missense variant	-	NC_000004.12:g.1901155G>T	TOPMed
NSD2	O96028	p.Arg171Lys	rs768831620	missense variant	-	NC_000004.12:g.1901166G>A	ExAC,gnomAD
NSD2	O96028	p.Arg171Thr	rs768831620	missense variant	-	NC_000004.12:g.1901166G>C	ExAC,gnomAD
NSD2	O96028	p.Ile173Met	rs1441448478	missense variant	-	NC_000004.12:g.1901173A>G	gnomAD
NSD2	O96028	p.Ile173Val	rs1055872699	missense variant	-	NC_000004.12:g.1901171A>G	TOPMed
NSD2	O96028	p.Lys174Thr	rs776888983	missense variant	-	NC_000004.12:g.1901175A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr175Cys	rs748089712	missense variant	-	NC_000004.12:g.1901178A>G	ExAC,TOPMed
NSD2	O96028	p.Leu178Ser	rs1325306850	missense variant	-	NC_000004.12:g.1901187T>C	gnomAD
NSD2	O96028	p.Glu180Asp	rs1352348277	missense variant	-	NC_000004.12:g.1901194G>T	gnomAD
NSD2	O96028	p.Gln181Arg	rs994171255	missense variant	-	NC_000004.12:g.1901196A>G	TOPMed,gnomAD
NSD2	O96028	p.Gln181His	rs769906407	missense variant	-	NC_000004.12:g.1901197G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly182Asp	rs1026029934	missense variant	-	NC_000004.12:g.1901199G>A	TOPMed,gnomAD
NSD2	O96028	p.Gly182Ser	rs773295682	missense variant	-	NC_000004.12:g.1901198G>A	ExAC,gnomAD
NSD2	O96028	p.Leu183Val	rs1024108009	missense variant	-	NC_000004.12:g.1901201C>G	TOPMed
NSD2	O96028	p.Val184Ala	rs1313506074	missense variant	-	NC_000004.12:g.1901205T>C	TOPMed,gnomAD
NSD2	O96028	p.Leu188Phe	rs886059315	missense variant	-	NC_000004.12:g.1901216C>T	gnomAD
NSD2	O96028	p.Leu188Val	RCV000279153	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1901216C>G	ClinVar
NSD2	O96028	p.Leu188Val	rs886059315	missense variant	-	NC_000004.12:g.1901216C>G	gnomAD
NSD2	O96028	p.Val189Met	rs1292473830	missense variant	-	NC_000004.12:g.1901219G>A	gnomAD
NSD2	O96028	p.Ile192Val	rs1436285466	missense variant	-	NC_000004.12:g.1901228A>G	TOPMed,gnomAD
NSD2	O96028	p.Pro195Leu	rs752263356	missense variant	-	NC_000004.12:g.1901238C>T	ExAC,gnomAD
NSD2	O96028	p.Glu205Gln	rs1398870006	missense variant	-	NC_000004.12:g.1904231G>C	gnomAD
NSD2	O96028	p.Ser206Cys	rs1325234907	missense variant	-	NC_000004.12:g.1904235C>G	TOPMed,gnomAD
NSD2	O96028	p.Pro208Thr	rs1430402689	missense variant	-	NC_000004.12:g.1904240C>A	gnomAD
NSD2	O96028	p.Thr210Ala	rs766759466	missense variant	-	NC_000004.12:g.1904246A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly211Glu	rs192103195	missense variant	-	NC_000004.12:g.1904250G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Arg212Gly	rs781497272	missense variant	-	NC_000004.12:g.1904252A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg212Thr	rs1345867166	missense variant	-	NC_000004.12:g.1904253G>C	gnomAD
NSD2	O96028	p.Lys214Glu	rs1373329229	missense variant	-	NC_000004.12:g.1904258A>G	TOPMed
NSD2	O96028	p.Asp215Gly	rs756213696	missense variant	-	NC_000004.12:g.1904262A>G	ExAC,gnomAD
NSD2	O96028	p.His216Tyr	rs557801913	missense variant	-	NC_000004.12:g.1904264C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Asn221Ser	rs577771710	missense variant	-	NC_000004.12:g.1904280A>G	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val222Ile	rs150146753	missense variant	-	NC_000004.12:g.1904282G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val230Ala	rs1460755399	missense variant	-	NC_000004.12:g.1904307T>C	TOPMed
NSD2	O96028	p.Ser231Leu	rs750127826	missense variant	-	NC_000004.12:g.1904310C>T	ExAC,gnomAD
NSD2	O96028	p.Gly232Arg	rs768184951	missense variant	-	NC_000004.12:g.1904312G>C	ExAC,gnomAD
NSD2	O96028	p.Trp236Ter	RCV000736076	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1904326G>A	ClinVar
NSD2	O96028	p.Met239Val	rs1403312398	missense variant	-	NC_000004.12:g.1904333A>G	gnomAD
NSD2	O96028	p.Leu245Phe	rs776067673	missense variant	-	NC_000004.12:g.1904351C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu245Val	rs776067673	missense variant	-	NC_000004.12:g.1904351C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser248Asn	rs1235439143	missense variant	-	NC_000004.12:g.1904361G>A	gnomAD
NSD2	O96028	p.Tyr249His	rs1241410661	missense variant	-	NC_000004.12:g.1904363T>C	TOPMed,gnomAD
NSD2	O96028	p.Lys251Arg	rs766736390	missense variant	-	NC_000004.12:g.1904370A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln265Ter	RCV000736077	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1916903C>T	ClinVar
NSD2	O96028	p.Ala270Thr	rs372805518	missense variant	-	NC_000004.12:g.1916918G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Ala270Val	rs556204462	missense variant	-	NC_000004.12:g.1916919C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ala274Thr	rs754123039	missense variant	-	NC_000004.12:g.1916930G>A	ExAC,gnomAD
NSD2	O96028	p.Ala274Ser	rs754123039	missense variant	-	NC_000004.12:g.1916930G>T	ExAC,gnomAD
NSD2	O96028	p.Ile276Met	rs757238305	missense variant	-	NC_000004.12:g.1916938A>G	ExAC,gnomAD
NSD2	O96028	p.Phe277Leu	rs377282154	missense variant	-	NC_000004.12:g.1916939T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu278Asp	rs773417934	missense variant	-	NC_000004.12:g.1916944G>C	TOPMed,gnomAD
NSD2	O96028	p.Ser280Gly	rs1162158242	missense variant	-	NC_000004.12:g.1916948A>G	gnomAD
NSD2	O96028	p.Leu281Ile	rs750333708	missense variant	-	NC_000004.12:g.1916951C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val282Ile	rs1033486520	missense variant	-	NC_000004.12:g.1916954G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala283Gly	rs1466344253	missense variant	-	NC_000004.12:g.1916958C>G	gnomAD
NSD2	O96028	p.Glu287Gly	rs746743921	missense variant	-	NC_000004.12:g.1916970A>G	ExAC,gnomAD
NSD2	O96028	p.Gly288Glu	rs754805178	missense variant	-	NC_000004.12:g.1916973G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu291Gly	rs1303399819	missense variant	-	NC_000004.12:g.1916982A>G	gnomAD
NSD2	O96028	p.Cys294Phe	rs1334376909	missense variant	-	NC_000004.12:g.1916991G>T	gnomAD
NSD2	O96028	p.Cys294Gly	rs769162551	missense variant	-	NC_000004.12:g.1916990T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Cys294Arg	rs769162551	missense variant	-	NC_000004.12:g.1916990T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln295Leu	rs144431814	missense variant	-	NC_000004.12:g.1916994A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln295Arg	rs144431814	missense variant	-	NC_000004.12:g.1916994A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln295Leu	RCV000391888	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1916994A>T	ClinVar
NSD2	O96028	p.Glu296Gly	rs746372645	missense variant	-	NC_000004.12:g.1916997A>G	ExAC
NSD2	O96028	p.Pro302Ser	rs202207779	missense variant	-	NC_000004.12:g.1917014C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala305Val	rs1260679780	missense variant	-	NC_000004.12:g.1917024C>T	gnomAD
NSD2	O96028	p.Glu306Gly	rs1356191814	missense variant	-	NC_000004.12:g.1917027A>G	TOPMed,gnomAD
NSD2	O96028	p.Ile308Met	rs760909823	missense variant	-	NC_000004.12:g.1917034T>G	ExAC,gnomAD
NSD2	O96028	p.Ile308Thr	rs967018941	missense variant	-	NC_000004.12:g.1917033T>C	TOPMed
NSD2	O96028	p.Leu311Phe	rs1238040522	missense variant	-	NC_000004.12:g.1918146G>T	gnomAD
NSD2	O96028	p.Ile314Val	rs371529672	missense variant	-	NC_000004.12:g.1918153A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile314Val	RCV000339914	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918153A>G	ClinVar
NSD2	O96028	p.Ser315Ala	rs770598241	missense variant	-	NC_000004.12:g.1918156T>G	ExAC,gnomAD
NSD2	O96028	p.Ser315Leu	rs1488845434	missense variant	-	NC_000004.12:g.1918157C>T	gnomAD
NSD2	O96028	p.Arg319Lys	rs1266982310	missense variant	-	NC_000004.12:g.1918169G>A	gnomAD
NSD2	O96028	p.Ala320Thr	rs747603711	missense variant	-	NC_000004.12:g.1918171G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln321His	rs1427424974	missense variant	-	NC_000004.12:g.1918176G>T	gnomAD
NSD2	O96028	p.Val327Phe	rs1380872489	missense variant	-	NC_000004.12:g.1918192G>T	TOPMed,gnomAD
NSD2	O96028	p.Gln328Glu	rs761932000	missense variant	-	NC_000004.12:g.1918195C>G	ExAC,gnomAD
NSD2	O96028	p.Ala333Val	rs1359955856	missense variant	-	NC_000004.12:g.1918211C>T	TOPMed
NSD2	O96028	p.Ser334Gly	rs1294763394	missense variant	-	NC_000004.12:g.1918213A>G	gnomAD
NSD2	O96028	p.Met335Leu	rs762977766	missense variant	-	NC_000004.12:g.1918216A>C	ExAC,gnomAD
NSD2	O96028	p.Met335Val	rs762977766	missense variant	-	NC_000004.12:g.1918216A>G	ExAC,gnomAD
NSD2	O96028	p.Met335Thr	rs1238576646	missense variant	-	NC_000004.12:g.1918217T>C	gnomAD
NSD2	O96028	p.Ser336Pro	rs766466000	missense variant	-	NC_000004.12:g.1918219T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser336Leu	rs1355075058	missense variant	-	NC_000004.12:g.1918220C>T	gnomAD
NSD2	O96028	p.Val337Glu	rs1432951280	missense variant	-	NC_000004.12:g.1918223T>A	TOPMed
NSD2	O96028	p.Arg340Gln	rs1159806209	missense variant	-	NC_000004.12:g.1918232G>A	TOPMed
NSD2	O96028	p.Phe344Tyr	rs1288253121	missense variant	-	NC_000004.12:g.1918244T>A	gnomAD
NSD2	O96028	p.Thr345Ile	rs1422010407	missense variant	-	NC_000004.12:g.1918247C>T	TOPMed
NSD2	O96028	p.Phe346Ile	rs759556940	missense variant	-	NC_000004.12:g.1918249T>A	ExAC
NSD2	O96028	p.Tyr348Phe	rs752594374	missense variant	-	NC_000004.12:g.1918256A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr348Cys	rs752594374	missense variant	-	NC_000004.12:g.1918256A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr348His	rs1248495684	missense variant	-	NC_000004.12:g.1918255T>C	gnomAD
NSD2	O96028	p.Val349Met	rs777528706	missense variant	-	NC_000004.12:g.1918258G>A	ExAC,gnomAD
NSD2	O96028	p.Gly350Glu	rs1238838764	missense variant	-	NC_000004.12:g.1918262G>A	TOPMed
NSD2	O96028	p.Asp351Glu	rs1161442762	missense variant	-	NC_000004.12:g.1918266C>A	gnomAD
NSD2	O96028	p.Leu353Val	rs1185258343	missense variant	-	NC_000004.12:g.1918270C>G	TOPMed
NSD2	O96028	p.His354Leu	rs1485072620	missense variant	-	NC_000004.12:g.1918274A>T	TOPMed
NSD2	O96028	p.Val359Leu	rs1405575368	missense variant	-	NC_000004.12:g.1918288G>T	gnomAD
NSD2	O96028	p.Ala360Asp	rs1166527461	missense variant	-	NC_000004.12:g.1918292C>A	TOPMed,gnomAD
NSD2	O96028	p.Ala360Val	rs1166527461	missense variant	-	NC_000004.12:g.1918292C>T	TOPMed,gnomAD
NSD2	O96028	p.Lys361Arg	rs1445338131	missense variant	-	NC_000004.12:g.1918295A>G	gnomAD
NSD2	O96028	p.Lys361Gln	rs199762353	missense variant	-	NC_000004.12:g.1918294A>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu362Val	rs747469766	missense variant	-	NC_000004.12:g.1918298A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu362Asp	rs769268150	missense variant	-	NC_000004.12:g.1918299G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala363Thr	rs1449724087	missense variant	-	NC_000004.12:g.1918300G>A	gnomAD
NSD2	O96028	p.Ala366Val	rs1356140581	missense variant	-	NC_000004.12:g.1918310C>T	gnomAD
NSD2	O96028	p.Ala367Val	rs1229281568	missense variant	-	NC_000004.12:g.1918313C>T	TOPMed,gnomAD
NSD2	O96028	p.Glu368Lys	rs1292228347	missense variant	-	NC_000004.12:g.1918315G>A	gnomAD
NSD2	O96028	p.Ser369Tyr	rs1198012129	missense variant	-	NC_000004.12:g.1918319C>A	gnomAD
NSD2	O96028	p.Ser369Pro	rs1316305610	missense variant	-	NC_000004.12:g.1918318T>C	gnomAD
NSD2	O96028	p.Leu370Ser	rs1238938071	missense variant	-	NC_000004.12:g.1918322T>C	TOPMed,gnomAD
NSD2	O96028	p.Gly371Glu	rs1340467827	missense variant	-	NC_000004.12:g.1918325G>A	gnomAD
NSD2	O96028	p.Ala374Glu	rs773370922	missense variant	-	NC_000004.12:g.1918334C>A	ExAC,gnomAD
NSD2	O96028	p.Ala374Thr	rs770171601	missense variant	-	NC_000004.12:g.1918333G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala374Val	rs773370922	missense variant	-	NC_000004.12:g.1918334C>T	ExAC,gnomAD
NSD2	O96028	p.Glu375Lys	rs763209260	missense variant	-	NC_000004.12:g.1918336G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser376Phe	rs1472983214	missense variant	-	NC_000004.12:g.1918340C>T	gnomAD
NSD2	O96028	p.Gly378Glu	rs140212386	missense variant	-	NC_000004.12:g.1918346G>A	ESP,TOPMed
NSD2	O96028	p.Val379Ile	rs770966499	missense variant	-	NC_000004.12:g.1918348G>A	ExAC,gnomAD
NSD2	O96028	p.Val379Phe	rs770966499	missense variant	-	NC_000004.12:g.1918348G>T	ExAC,gnomAD
NSD2	O96028	p.Ser380Arg	rs774556109	missense variant	-	NC_000004.12:g.1918353T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser380Asn	rs1416878451	missense variant	-	NC_000004.12:g.1918352G>A	gnomAD
NSD2	O96028	p.Glu382Lys	rs759377936	missense variant	-	NC_000004.12:g.1918357G>A	ExAC,gnomAD
NSD2	O96028	p.Ala383Gly	rs1401905410	missense variant	-	NC_000004.12:g.1918361C>G	TOPMed,gnomAD
NSD2	O96028	p.Ala384Thr	rs767422079	missense variant	-	NC_000004.12:g.1918363G>A	ExAC,gnomAD
NSD2	O96028	p.Pro387Ala	rs1340418858	missense variant	-	NC_000004.12:g.1918372C>G	gnomAD
NSD2	O96028	p.Lys388Arg	rs760499309	missense variant	-	NC_000004.12:g.1918376A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Thr	rs760499309	missense variant	-	NC_000004.12:g.1918376A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Asn	rs753512534	missense variant	-	NC_000004.12:g.1918377G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Asn	rs753512534	missense variant	-	NC_000004.12:g.1918377G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser389Pro	rs1338705176	missense variant	-	NC_000004.12:g.1918378T>C	gnomAD
NSD2	O96028	p.Val390Leu	rs749895097	missense variant	-	NC_000004.12:g.1918381G>C	ExAC,gnomAD
NSD2	O96028	p.Arg391Gly	rs890082810	missense variant	-	NC_000004.12:g.1918384A>G	TOPMed
NSD2	O96028	p.Cys394Tyr	rs1320151142	missense variant	-	NC_000004.12:g.1918394G>A	TOPMed,gnomAD
NSD2	O96028	p.Cys394Phe	rs1320151142	missense variant	-	NC_000004.12:g.1918394G>T	TOPMed,gnomAD
NSD2	O96028	p.Ile395Val	rs757846841	missense variant	-	NC_000004.12:g.1918396A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg401Gln	rs748673417	missense variant	-	NC_000004.12:g.1918415G>A	ExAC,gnomAD
NSD2	O96028	p.Arg401Trp	rs1211896693	missense variant	-	NC_000004.12:g.1918414C>T	TOPMed,gnomAD
NSD2	O96028	p.Arg402Lys	rs1477277482	missense variant	-	NC_000004.12:g.1918418G>A	gnomAD
NSD2	O96028	p.Glu410Asp	rs1323304367	missense variant	-	NC_000004.12:g.1918443G>T	TOPMed
NSD2	O96028	p.Glu410Val	rs1222147246	missense variant	-	NC_000004.12:g.1918442A>T	TOPMed
NSD2	O96028	p.Thr411Ile	rs1270991536	missense variant	-	NC_000004.12:g.1918445C>T	TOPMed
NSD2	O96028	p.Ser414Thr	rs1171494347	missense variant	-	NC_000004.12:g.1918454G>C	gnomAD
NSD2	O96028	p.Pro416Ser	rs1278980140	missense variant	-	NC_000004.12:g.1918459C>T	TOPMed
NSD2	O96028	p.Asp417Asn	rs745921448	missense variant	-	NC_000004.12:g.1918462G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly419Glu	rs544842635	missense variant	-	NC_000004.12:g.1918469G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys420Glu	rs775476451	missense variant	-	NC_000004.12:g.1918471A>G	ExAC,gnomAD
NSD2	O96028	p.Ser421Arg	rs1202036637	missense variant	-	NC_000004.12:g.1918474A>C	TOPMed,gnomAD
NSD2	O96028	p.Thr422Ile	rs1027089911	missense variant	-	NC_000004.12:g.1918478C>T	TOPMed
NSD2	O96028	p.Pro423Leu	rs1231087793	missense variant	-	NC_000004.12:g.1918481C>T	TOPMed,gnomAD
NSD2	O96028	p.Pro423Ser	rs775406978	missense variant	-	NC_000004.12:g.1918480C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr426Met	rs200784805	missense variant	-	NC_000004.12:g.1918490C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu428Asp	rs764880891	missense variant	-	NC_000004.12:g.1918497G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala429Asp	rs1418109519	missense variant	-	NC_000004.12:g.1918499C>A	TOPMed
NSD2	O96028	p.Pro431Ser	rs1217095015	missense variant	-	NC_000004.12:g.1918504C>T	TOPMed,gnomAD
NSD2	O96028	p.Arg432Ser	rs757872063	missense variant	-	NC_000004.12:g.1918509A>C	ExAC,gnomAD
NSD2	O96028	p.Arg432Gly	rs1449515277	missense variant	-	NC_000004.12:g.1918507A>G	gnomAD
NSD2	O96028	p.Val435Ile	rs765853067	missense variant	-	NC_000004.12:g.1918516G>A	ExAC,gnomAD
NSD2	O96028	p.Gly436Val	rs769930210	missense variant	-	NC_000004.12:g.1918520G>T	ExAC,gnomAD
NSD2	O96028	p.Gly436Arg	rs1478631765	missense variant	-	NC_000004.12:g.1918519G>A	gnomAD
NSD2	O96028	p.Gly436Glu	rs769930210	missense variant	-	NC_000004.12:g.1918520G>A	ExAC,gnomAD
NSD2	O96028	p.Pro438Leu	rs533653843	missense variant	-	NC_000004.12:g.1918526C>T	gnomAD
NSD2	O96028	p.Pro439Leu	rs1299204529	missense variant	-	NC_000004.12:g.1918529C>T	gnomAD
NSD2	O96028	p.Pro439Ser	rs1024984881	missense variant	-	NC_000004.12:g.1918528C>T	TOPMed,gnomAD
NSD2	O96028	p.Pro439Ala	rs1024984881	missense variant	-	NC_000004.12:g.1918528C>G	TOPMed,gnomAD
NSD2	O96028	p.Arg441Trp	rs1258951493	missense variant	-	NC_000004.12:g.1918534A>T	TOPMed
NSD2	O96028	p.Lys442Arg	rs778096764	missense variant	-	NC_000004.12:g.1918538A>G	ExAC,gnomAD
NSD2	O96028	p.Thr444Ala	RCV000309220	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918543A>G	ClinVar
NSD2	O96028	p.Thr444Asn	rs1235550316	missense variant	-	NC_000004.12:g.1918544C>A	gnomAD
NSD2	O96028	p.Thr444Ala	rs112014939	missense variant	-	NC_000004.12:g.1918543A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser447Cys	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>G	TOPMed,gnomAD
NSD2	O96028	p.Ser447Phe	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>T	TOPMed,gnomAD
NSD2	O96028	p.Ser447Tyr	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>A	TOPMed,gnomAD
NSD2	O96028	p.Met448Ile	rs1220362986	missense variant	-	NC_000004.12:g.1918557G>T	TOPMed
NSD2	O96028	p.Met448Val	rs1352916117	missense variant	-	NC_000004.12:g.1918555A>G	gnomAD
NSD2	O96028	p.Pro449Ser	rs757593548	missense variant	-	NC_000004.12:g.1918558C>T	ExAC,gnomAD
NSD2	O96028	p.Arg450Gln	rs146822227	missense variant	-	NC_000004.12:g.1918562G>A	1000Genomes,ExAC
NSD2	O96028	p.Ser451Asn	rs528156709	missense variant	-	NC_000004.12:g.1918565G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ser451Gly	rs746127427	missense variant	-	NC_000004.12:g.1918564A>G	ExAC,gnomAD
NSD2	O96028	p.Arg452Lys	rs775781891	missense variant	-	NC_000004.12:g.1918568G>A	ExAC,gnomAD
NSD2	O96028	p.Asp455Gly	rs551480723	missense variant	-	NC_000004.12:g.1918577A>G	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala456Pro	rs1301786203	missense variant	-	NC_000004.12:g.1918579G>C	TOPMed
NSD2	O96028	p.Ala456Gly	rs1173566157	missense variant	-	NC_000004.12:g.1918580C>G	gnomAD
NSD2	O96028	p.Gln459Arg	rs768660174	missense variant	-	NC_000004.12:g.1918589A>G	ExAC,gnomAD
NSD2	O96028	p.Leu461Phe	rs776718972	missense variant	-	NC_000004.12:g.1918596G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val462Ile	rs909812134	missense variant	-	NC_000004.12:g.1918597G>A	TOPMed,gnomAD
NSD2	O96028	p.Phe463Cys	rs1460113219	missense variant	-	NC_000004.12:g.1918601T>G	TOPMed
NSD2	O96028	p.Gln465Arg	rs200573697	missense variant	-	NC_000004.12:g.1918607A>G	TOPMed,gnomAD
NSD2	O96028	p.His467Tyr	rs1365973299	missense variant	-	NC_000004.12:g.1918612C>T	gnomAD
NSD2	O96028	p.Asp469Glu	rs762549754	missense variant	-	NC_000004.12:g.1918620T>A	ExAC,gnomAD
NSD2	O96028	p.Asp469Asn	rs772894930	missense variant	-	NC_000004.12:g.1918618G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu470Lys	rs1393187232	missense variant	-	NC_000004.12:g.1918621G>A	TOPMed
NSD2	O96028	p.Val471Leu	rs762295992	missense variant	-	NC_000004.12:g.1930626G>T	ExAC,gnomAD
NSD2	O96028	p.Pro476Ser	rs372548092	missense variant	-	NC_000004.12:g.1930641C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro476Ala	rs372548092	missense variant	-	NC_000004.12:g.1930641C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu482Gly	rs750699195	missense variant	-	NC_000004.12:g.1930660A>G	ExAC,gnomAD
NSD2	O96028	p.Ile483Thr	rs758798682	missense variant	-	NC_000004.12:g.1930663T>C	ExAC,gnomAD
NSD2	O96028	p.Ile483Met	rs780387498	missense variant	-	NC_000004.12:g.1930664T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu485Ter	rs1465546689	stop gained	-	NC_000004.12:g.1930668G>T	gnomAD
NSD2	O96028	p.Glu485Val	rs1303202014	missense variant	-	NC_000004.12:g.1930669A>T	gnomAD
NSD2	O96028	p.Glu485Asp	rs536667286	missense variant	-	NC_000004.12:g.1930670G>C	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ser495Asn	rs1424170850	missense variant	-	NC_000004.12:g.1930699G>A	TOPMed
NSD2	O96028	p.Ala500Thr	rs781458614	missense variant	-	NC_000004.12:g.1930713G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val509Leu	rs748110450	missense variant	-	NC_000004.12:g.1930740G>C	ExAC,gnomAD
NSD2	O96028	p.Ala510Val	rs769675903	missense variant	-	NC_000004.12:g.1930744C>T	ExAC,gnomAD
NSD2	O96028	p.Ala510Pro	rs1256922030	missense variant	-	NC_000004.12:g.1930743G>C	gnomAD
NSD2	O96028	p.Val512Leu	rs777777950	missense variant	-	NC_000004.12:g.1930749G>C	ExAC,gnomAD
NSD2	O96028	p.Ala514Thr	rs1262675030	missense variant	-	NC_000004.12:g.1930755G>A	gnomAD
NSD2	O96028	p.Ala514Gly	rs1028583535	missense variant	-	NC_000004.12:g.1930756C>G	TOPMed,gnomAD
NSD2	O96028	p.Glu515Lys	rs1188354432	missense variant	-	NC_000004.12:g.1930758G>A	gnomAD
NSD2	O96028	p.Glu516Asp	rs748968237	missense variant	-	NC_000004.12:g.1930763A>C	ExAC,gnomAD
NSD2	O96028	p.Gly519Ala	rs768231623	missense variant	-	NC_000004.12:g.1935144G>C	ExAC
NSD2	O96028	p.Val521Gly	rs763599385	missense variant	-	NC_000004.12:g.1935150T>G	ExAC,gnomAD
NSD2	O96028	p.Val521Ile	rs184269531	missense variant	-	NC_000004.12:g.1935149G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val521Leu	rs184269531	missense variant	-	NC_000004.12:g.1935149G>C	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Asn522Ser	rs766849084	missense variant	-	NC_000004.12:g.1935153A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly523Glu	rs1373823679	missense variant	-	NC_000004.12:g.1935156G>A	gnomAD
NSD2	O96028	p.Lys524Arg	rs1404880935	missense variant	-	NC_000004.12:g.1935159A>G	TOPMed
NSD2	O96028	p.Lys524Ter	RCV000736075	frameshift	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1935157dup	ClinVar
NSD2	O96028	p.Lys525Glu	rs376083183	missense variant	-	NC_000004.12:g.1935161A>G	ESP,ExAC,gnomAD
NSD2	O96028	p.Arg526Gly	rs767569743	missense variant	-	NC_000004.12:g.1935164A>G	ExAC,gnomAD
NSD2	O96028	p.Arg526Lys	rs1158851983	missense variant	-	NC_000004.12:g.1935165G>A	TOPMed
NSD2	O96028	p.His528Gln	RCV000269277	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935172C>A	ClinVar
NSD2	O96028	p.His528Asn	RCV000366205	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935170C>A	ClinVar
NSD2	O96028	p.His528Asn	rs139753036	missense variant	-	NC_000004.12:g.1935170C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.His528Gln	rs149810908	missense variant	-	NC_000004.12:g.1935172C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr529Ile	rs1439655332	missense variant	-	NC_000004.12:g.1935174C>T	TOPMed
NSD2	O96028	p.Thr529Pro	rs145704598	missense variant	-	NC_000004.12:g.1935173A>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg531Thr	rs140468997	missense variant	-	NC_000004.12:g.1935180G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile532Ter	RCV000657550	frameshift	-	NC_000004.12:g.1935176_1935177dup	ClinVar
NSD2	O96028	p.Thr536Ile	rs758217696	missense variant	-	NC_000004.12:g.1935195C>T	ExAC,gnomAD
NSD2	O96028	p.Asp538Val	rs201639781	missense variant	-	NC_000004.12:g.1935201A>T	1000Genomes,TOPMed
NSD2	O96028	p.Ala539Thr	rs746720577	missense variant	-	NC_000004.12:g.1935203G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu540Lys	rs768024031	missense variant	-	NC_000004.12:g.1935206G>A	ExAC
NSD2	O96028	p.Ala541Val	rs1405664178	missense variant	-	NC_000004.12:g.1935210C>T	gnomAD
NSD2	O96028	p.Thr544Ala	rs776275446	missense variant	-	NC_000004.12:g.1935218A>G	ExAC,gnomAD
NSD2	O96028	p.Pro545Ser	rs749802617	missense variant	-	NC_000004.12:g.1935221C>T	ExAC,gnomAD
NSD2	O96028	p.Pro545Leu	rs771509829	missense variant	-	NC_000004.12:g.1935222C>T	ExAC,gnomAD
NSD2	O96028	p.Arg546Lys	rs775004764	missense variant	-	NC_000004.12:g.1935225G>A	ExAC,gnomAD
NSD2	O96028	p.Thr551Met	rs146509878	missense variant	-	NC_000004.12:g.1935240C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys553Arg	rs761024107	missense variant	-	NC_000004.12:g.1935246A>G	ExAC,gnomAD
NSD2	O96028	p.His554Gln	rs1273557385	missense variant	-	NC_000004.12:g.1935250C>G	TOPMed,gnomAD
NSD2	O96028	p.Ser555Gly	rs1439497500	missense variant	-	NC_000004.12:g.1935251A>G	gnomAD
NSD2	O96028	p.Leu556Val	rs950240383	missense variant	-	NC_000004.12:g.1935254C>G	TOPMed,gnomAD
NSD2	O96028	p.Arg557Trp	rs1207755212	missense variant	-	NC_000004.12:g.1935257C>T	TOPMed,gnomAD
NSD2	O96028	p.Asp560Glu	rs1434444449	missense variant	-	NC_000004.12:g.1938456C>G	gnomAD
NSD2	O96028	p.Ile562Ser	rs1370534690	missense variant	-	NC_000004.12:g.1938461T>G	TOPMed
NSD2	O96028	p.Ile562Val	rs1274132193	missense variant	-	NC_000004.12:g.1938460A>G	gnomAD
NSD2	O96028	p.Asp564Glu	rs1323423253	missense variant	-	NC_000004.12:g.1938468C>G	TOPMed,gnomAD
NSD2	O96028	p.Thr569Arg	rs967022469	missense variant	-	NC_000004.12:g.1938482C>G	TOPMed
NSD2	O96028	p.Ser570Ile	rs1244974581	missense variant	-	NC_000004.12:g.1938485G>T	gnomAD
NSD2	O96028	p.Ser571Cys	rs763018932	missense variant	-	NC_000004.12:g.1938488C>G	ExAC,gnomAD
NSD2	O96028	p.Ser571Phe	rs763018932	missense variant	-	NC_000004.12:g.1938488C>T	ExAC,gnomAD
NSD2	O96028	p.Tyr572Ser	rs1352496907	missense variant	-	NC_000004.12:g.1938491A>C	gnomAD
NSD2	O96028	p.Lys573Glu	rs538038976	missense variant	-	NC_000004.12:g.1938493A>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys573Thr	rs751314482	missense variant	-	NC_000004.12:g.1938494A>C	ExAC,gnomAD
NSD2	O96028	p.Ala574Thr	rs780953841	missense variant	-	NC_000004.12:g.1938496G>A	ExAC,gnomAD
NSD2	O96028	p.Ala577Thr	rs1195882701	missense variant	-	NC_000004.12:g.1938505G>A	gnomAD
NSD2	O96028	p.Ala578Gly	rs140182983	missense variant	-	NC_000004.12:g.1938509C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala578Val	rs140182983	missense variant	-	NC_000004.12:g.1938509C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser580Leu	rs746362705	missense variant	-	NC_000004.12:g.1938515C>T	ExAC,gnomAD
NSD2	O96028	p.Ala585Thr	rs1371619664	missense variant	-	NC_000004.12:g.1938529G>A	gnomAD
NSD2	O96028	p.Ala586Val	rs1390587603	missense variant	-	NC_000004.12:g.1939654C>T	TOPMed
NSD2	O96028	p.Thr587Met	rs763851539	missense variant	-	NC_000004.12:g.1939657C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr587Arg	rs763851539	missense variant	-	NC_000004.12:g.1939657C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu590Arg	rs539819179	missense variant	-	NC_000004.12:g.1939666T>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Leu590Met	rs570695212	missense variant	-	NC_000004.12:g.1939665C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys599Thr	rs1171689736	missense variant	-	NC_000004.12:g.1939693A>C	gnomAD
NSD2	O96028	p.Arg600Gln	rs1189008609	missense variant	-	NC_000004.12:g.1939696G>A	TOPMed
NSD2	O96028	p.Arg602Gln	rs1418871757	missense variant	-	NC_000004.12:g.1939702G>A	gnomAD
NSD2	O96028	p.Ala603Gly	rs748360474	missense variant	-	NC_000004.12:g.1939705C>G	ExAC,gnomAD
NSD2	O96028	p.Thr605Met	rs1213997018	missense variant	-	NC_000004.12:g.1939711C>T	-
NSD2	O96028	p.Thr605Ala	rs769950208	missense variant	-	NC_000004.12:g.1939710A>G	ExAC,gnomAD
NSD2	O96028	p.Ala606Thr	rs1299648042	missense variant	-	NC_000004.12:g.1939713G>A	gnomAD
NSD2	O96028	p.Ala606Glu	rs1030558419	missense variant	-	NC_000004.12:g.1939714C>A	TOPMed,gnomAD
NSD2	O96028	p.Ala606Val	rs1030558419	missense variant	-	NC_000004.12:g.1939714C>T	TOPMed,gnomAD
NSD2	O96028	p.Ala607Val	rs1413976698	missense variant	-	NC_000004.12:g.1939717C>T	gnomAD
NSD2	O96028	p.Ser614Asn	rs767653275	missense variant	-	NC_000004.12:g.1939738G>A	gnomAD
NSD2	O96028	p.Lys615Asn	rs770938820	missense variant	-	NC_000004.12:g.1939742A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser618Cys	rs774325375	missense variant	-	NC_000004.12:g.1939750C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser620Ala	rs759432670	missense variant	-	NC_000004.12:g.1939755T>G	ExAC,gnomAD
NSD2	O96028	p.Thr624Pro	rs1253622631	missense variant	-	NC_000004.12:g.1939767A>C	gnomAD
NSD2	O96028	p.Ser629Pro	rs764506321	missense variant	-	NC_000004.12:g.1951075T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser629Leu	rs144714547	missense variant	-	NC_000004.12:g.1951076C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp630Glu	rs778951564	missense variant	-	NC_000004.12:g.1951080C>G	ExAC
NSD2	O96028	p.Pro632Leu	rs750722330	missense variant	-	NC_000004.12:g.1951085C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp634Asn	rs780346425	missense variant	-	NC_000004.12:g.1951090G>A	ExAC,gnomAD
NSD2	O96028	p.Pro636Arg	rs150312094	missense variant	-	NC_000004.12:g.1951097C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Pro	rs781198289	missense variant	-	NC_000004.12:g.1951099T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Leu	rs201252361	missense variant	-	NC_000004.12:g.1951100C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Ala	rs781198289	missense variant	-	NC_000004.12:g.1951099T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser639Cys	rs1482224235	missense variant	-	NC_000004.12:g.1951106C>G	TOPMed
NSD2	O96028	p.Pro640Leu	rs748981823	missense variant	-	NC_000004.12:g.1951109C>T	ExAC,gnomAD
NSD2	O96028	p.Tyr641His	rs770425230	missense variant	-	NC_000004.12:g.1951111T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu642Val	rs759061394	missense variant	-	NC_000004.12:g.1951115A>T	ExAC,gnomAD
NSD2	O96028	p.Glu642Gly	rs759061394	missense variant	-	NC_000004.12:g.1951115A>G	ExAC,gnomAD
NSD2	O96028	p.Val651Leu	rs1383119383	missense variant	-	NC_000004.12:g.1951141G>C	TOPMed
NSD2	O96028	p.Val651Ala	rs1328580847	missense variant	-	NC_000004.12:g.1951142T>C	gnomAD
NSD2	O96028	p.Glu659Gly	rs1398214715	missense variant	-	NC_000004.12:g.1951166A>G	TOPMed
NSD2	O96028	p.Arg660Gln	rs1355063646	missense variant	-	NC_000004.12:g.1951169G>A	gnomAD
NSD2	O96028	p.Gly661Val	rs758747210	missense variant	-	NC_000004.12:g.1951172G>T	ExAC,gnomAD
NSD2	O96028	p.Val662Ala	rs1400681386	missense variant	-	NC_000004.12:g.1951175T>C	TOPMed
NSD2	O96028	p.Ala664Val	rs766717444	missense variant	-	NC_000004.12:g.1951181C>T	ExAC,gnomAD
NSD2	O96028	p.Lys665Arg	rs143388708	missense variant	-	NC_000004.12:g.1951184A>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr668Cys	rs1308986047	missense variant	-	NC_000004.12:g.1951193A>G	TOPMed,gnomAD
NSD2	O96028	p.Val669Met	rs1362563185	missense variant	-	NC_000004.12:g.1951195G>A	TOPMed
NSD2	O96028	p.Leu672Val	rs1448727938	missense variant	-	NC_000004.12:g.1952108C>G	TOPMed
NSD2	O96028	p.Pro676Ser	rs943227424	missense variant	-	NC_000004.12:g.1952120C>T	-
NSD2	O96028	p.Pro676Leu	rs773890550	missense variant	-	NC_000004.12:g.1952121C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser678Asn	rs1277336806	missense variant	-	NC_000004.12:g.1952127G>A	gnomAD
NSD2	O96028	p.Leu679Phe	rs1349584955	missense variant	-	NC_000004.12:g.1952129C>T	gnomAD
NSD2	O96028	p.Leu680Pro	rs774410104	missense variant	-	NC_000004.12:g.1952133T>C	ExAC,gnomAD
NSD2	O96028	p.Ala693Thr	rs760749890	missense variant	-	NC_000004.12:g.1952171G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg699Trp	rs763969166	missense variant	-	NC_000004.12:g.1952189C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly703Arg	rs757015702	missense variant	-	NC_000004.12:g.1952201G>A	ExAC,gnomAD
NSD2	O96028	p.Gly703Val	rs1390978369	missense variant	-	NC_000004.12:g.1952202G>T	gnomAD
NSD2	O96028	p.Glu709Lys	rs369991547	missense variant	-	NC_000004.12:g.1952219G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile714Asn	rs1302175161	missense variant	-	NC_000004.12:g.1953327T>A	gnomAD
NSD2	O96028	p.Ser716Pro	rs748174351	missense variant	-	NC_000004.12:g.1953332T>C	ExAC,gnomAD
NSD2	O96028	p.Val719Leu	rs200415868	missense variant	-	NC_000004.12:g.1953341G>C	1000Genomes
NSD2	O96028	p.Ser723Arg	rs762870190	missense variant	-	NC_000004.12:g.1953355C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr725Ala	rs1251092560	missense variant	-	NC_000004.12:g.1953359A>G	TOPMed,gnomAD
NSD2	O96028	p.Thr725Ile	rs1201830073	missense variant	-	NC_000004.12:g.1953360C>T	TOPMed
NSD2	O96028	p.Val727Leu	rs766187206	missense variant	-	NC_000004.12:g.1953365G>C	ExAC,gnomAD
NSD2	O96028	p.Arg729Gly	rs1194038054	missense variant	-	NC_000004.12:g.1953371C>G	gnomAD
NSD2	O96028	p.Val731Ala	rs927209802	missense variant	-	NC_000004.12:g.1953378T>C	TOPMed
NSD2	O96028	p.Val731Met	rs370713472	missense variant	-	NC_000004.12:g.1953377G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Thr733Pro	rs1280676418	missense variant	-	NC_000004.12:g.1953383A>C	TOPMed
NSD2	O96028	p.Gln734Lys	rs1235457134	missense variant	-	NC_000004.12:g.1953386C>A	TOPMed
NSD2	O96028	p.Glu741Val	rs1157710629	missense variant	-	NC_000004.12:g.1953408A>T	gnomAD
NSD2	O96028	p.Ala742Ser	rs767239709	missense variant	-	NC_000004.12:g.1953410G>T	ExAC,gnomAD
NSD2	O96028	p.Ala742Gly	rs1458389813	missense variant	-	NC_000004.12:g.1953411C>G	gnomAD
NSD2	O96028	p.Lys746Ile	rs755618120	missense variant	-	NC_000004.12:g.1953423A>T	ExAC,gnomAD
NSD2	O96028	p.Tyr747Phe	rs1440615250	missense variant	-	NC_000004.12:g.1953426A>T	gnomAD
NSD2	O96028	p.Phe752Ser	rs750927886	missense variant	-	NC_000004.12:g.1953441T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Phe752Leu	rs763576743	missense variant	-	NC_000004.12:g.1953440T>C	ExAC,gnomAD
NSD2	O96028	p.Ser754Arg	rs1306585669	missense variant	-	NC_000004.12:g.1953448C>G	gnomAD
NSD2	O96028	p.Arg758Ser	rs1329886619	missense variant	-	NC_000004.12:g.1953458C>A	gnomAD
NSD2	O96028	p.Pro760Ala	rs952088696	missense variant	-	NC_000004.12:g.1953464C>G	TOPMed
NSD2	O96028	p.Ser766Asn	rs1222020519	missense variant	-	NC_000004.12:g.1953483G>A	gnomAD
NSD2	O96028	p.Ser766Thr	rs1222020519	missense variant	-	NC_000004.12:g.1953483G>C	gnomAD
NSD2	O96028	p.Ala769Thr	rs991357362	missense variant	-	NC_000004.12:g.1953491G>A	TOPMed
NSD2	O96028	p.Pro772Ser	rs781367586	missense variant	-	NC_000004.12:g.1953500C>T	ExAC,gnomAD
NSD2	O96028	p.Asn774Tyr	rs748411778	missense variant	-	NC_000004.12:g.1953506A>T	ExAC,gnomAD
NSD2	O96028	p.Pro775Thr	rs540859268	missense variant	-	NC_000004.12:g.1953509C>A	gnomAD
NSD2	O96028	p.Pro775Ser	rs540859268	missense variant	-	NC_000004.12:g.1953509C>T	gnomAD
NSD2	O96028	p.Pro777Ser	rs562252470	missense variant	-	NC_000004.12:g.1953515C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro777Ala	rs562252470	missense variant	-	NC_000004.12:g.1953515C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro777Leu	rs1192456885	missense variant	-	NC_000004.12:g.1953516C>T	TOPMed
NSD2	O96028	p.Ser778Leu	rs374024971	missense variant	-	NC_000004.12:g.1953519C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg784Gln	rs1239708011	missense variant	-	NC_000004.12:g.1955173G>A	gnomAD
NSD2	O96028	p.Val786Ile	rs548145434	missense variant	-	NC_000004.12:g.1955178G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val790Ile	rs761204359	missense variant	-	NC_000004.12:g.1955190G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr792Phe	rs752059206	missense variant	-	NC_000004.12:g.1955197A>T	ExAC,gnomAD
NSD2	O96028	p.Ser794Gly	rs760095870	missense variant	-	NC_000004.12:g.1955202A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly795Arg	rs1190376594	missense variant	-	NC_000004.12:g.1955205G>A	TOPMed
NSD2	O96028	p.Val805Ala	rs144335923	missense variant	-	NC_000004.12:g.1955236T>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val805Ala	RCV000261891	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1955236T>C	ClinVar
NSD2	O96028	p.Ala807Thr	rs143360610	missense variant	-	NC_000004.12:g.1955241G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser808Cys	rs757383616	missense variant	-	NC_000004.12:g.1955245C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asn809Ser	rs1220682081	missense variant	-	NC_000004.12:g.1955248A>G	TOPMed
NSD2	O96028	p.Ile812Val	rs1445749183	missense variant	-	NC_000004.12:g.1955256A>G	gnomAD
NSD2	O96028	p.Thr818Ala	rs779189829	missense variant	-	NC_000004.12:g.1955274A>G	ExAC,gnomAD
NSD2	O96028	p.Arg820Gln	rs758343111	missense variant	-	NC_000004.12:g.1955281G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg820Trp	rs745957331	missense variant	-	NC_000004.12:g.1955280C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys821Gln	rs980280785	missense variant	-	NC_000004.12:g.1955283A>C	TOPMed
NSD2	O96028	p.Lys823Arg	rs1435819330	missense variant	-	NC_000004.12:g.1955290A>G	gnomAD
NSD2	O96028	p.His825Gln	rs748922675	missense variant	-	NC_000004.12:g.1955297C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His826Leu	rs1478502518	missense variant	-	NC_000004.12:g.1955299A>T	gnomAD
NSD2	O96028	p.Ala827Thr	rs776114283	missense variant	-	NC_000004.12:g.1955301G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala827Val	rs747861024	missense variant	-	NC_000004.12:g.1955302C>T	ExAC,gnomAD
NSD2	O96028	p.Val829Ile	rs146318719	missense variant	-	NC_000004.12:g.1955307G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Ser832Asn	rs1170253779	missense variant	-	NC_000004.12:g.1955317G>A	TOPMed
NSD2	O96028	p.Val836Met	rs139637100	missense variant	-	NC_000004.12:g.1955328G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val836Leu	rs139637100	missense variant	-	NC_000004.12:g.1955328G>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys839Glu	rs757494380	missense variant	-	NC_000004.12:g.1955337A>G	ExAC,gnomAD
NSD2	O96028	p.Ile860Phe	rs1337213459	missense variant	-	NC_000004.12:g.1955752A>T	TOPMed,gnomAD
NSD2	O96028	p.Glu861Lys	rs1422388271	missense variant	-	NC_000004.12:g.1955755G>A	TOPMed
NSD2	O96028	p.Glu861Gly	rs1309496969	missense variant	-	NC_000004.12:g.1955756A>G	gnomAD
NSD2	O96028	p.Met862Thr	rs1352976948	missense variant	-	NC_000004.12:g.1955759T>C	TOPMed,gnomAD
NSD2	O96028	p.Asp864Asn	rs748981703	missense variant	-	NC_000004.12:g.1955764G>A	ExAC,gnomAD
NSD2	O96028	p.Gly865Ser	rs1281027436	missense variant	-	NC_000004.12:g.1955767G>A	gnomAD
NSD2	O96028	p.Ser866Ile	rs377249050	missense variant	-	NC_000004.12:g.1955771G>T	ESP,ExAC,gnomAD
NSD2	O96028	p.Cys869Arg	rs1553876452	missense variant	-	NC_000004.12:g.1955779T>C	-
NSD2	O96028	p.Cys869Arg	RCV000622646	missense variant	Inborn genetic diseases	NC_000004.12:g.1955779T>C	ClinVar
NSD2	O96028	p.Asn870Ser	rs1268825335	missense variant	-	NC_000004.12:g.1955783A>G	gnomAD
NSD2	O96028	p.Arg873Lys	rs1341691783	missense variant	-	NC_000004.12:g.1955792G>A	gnomAD
NSD2	O96028	p.His879Arg	rs1485302063	missense variant	-	NC_000004.12:g.1955810A>G	gnomAD
NSD2	O96028	p.Phe880Tyr	rs777295950	missense variant	-	NC_000004.12:g.1955813T>A	ExAC,gnomAD
NSD2	O96028	p.Phe880Leu	rs1484701021	missense variant	-	NC_000004.12:g.1955814C>G	gnomAD
NSD2	O96028	p.Ile883Thr	rs762245596	missense variant	-	NC_000004.12:g.1955822T>C	ExAC,gnomAD
NSD2	O96028	p.Ile884Val	rs369572952	missense variant	-	NC_000004.12:g.1955824A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro906Leu	rs145631870	missense variant	-	NC_000004.12:g.1956024C>T	ESP,ExAC,TOPMed
NSD2	O96028	p.Ile915Val	rs1432275472	missense variant	-	NC_000004.12:g.1956050A>G	gnomAD
NSD2	O96028	p.Lys926Gln	rs1257240726	missense variant	-	NC_000004.12:g.1956083A>C	TOPMed
NSD2	O96028	p.Thr931Met	rs767627490	missense variant	-	NC_000004.12:g.1956099C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His932Tyr	rs760665991	missense variant	-	NC_000004.12:g.1956101C>T	ExAC,gnomAD
NSD2	O96028	p.Ala934Val	rs1388626156	missense variant	-	NC_000004.12:g.1956108C>T	gnomAD
NSD2	O96028	p.Pro938Leu	rs200311175	missense variant	-	NC_000004.12:g.1956120C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Met940Arg	rs764917391	missense variant	-	NC_000004.12:g.1956126T>G	ExAC,gnomAD
NSD2	O96028	p.Met940Val	rs1313958361	missense variant	-	NC_000004.12:g.1956125A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu941Gly	rs750083545	missense variant	-	NC_000004.12:g.1956129A>G	ExAC
NSD2	O96028	p.Glu941Asp	rs1329849826	missense variant	-	NC_000004.12:g.1956130G>T	TOPMed,gnomAD
NSD2	O96028	p.Asp943Ala	rs757920884	missense variant	-	NC_000004.12:g.1956135A>C	ExAC,gnomAD
NSD2	O96028	p.Asp943Gly	rs757920884	missense variant	-	NC_000004.12:g.1956135A>G	ExAC,gnomAD
NSD2	O96028	p.Arg944Gln	rs756624618	missense variant	-	NC_000004.12:g.1956138G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg944Gln	RCV000371835	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1956138G>A	ClinVar
NSD2	O96028	p.Arg944Gly	rs746529986	missense variant	-	NC_000004.12:g.1956137C>G	ExAC,gnomAD
NSD2	O96028	p.Arg944Leu	rs756624618	missense variant	-	NC_000004.12:g.1956138G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly945Ala	rs771249310	missense variant	-	NC_000004.12:g.1956141G>C	ExAC
NSD2	O96028	p.Gly945Arg	rs749617066	missense variant	-	NC_000004.12:g.1956140G>C	ExAC,gnomAD
NSD2	O96028	p.Arg947His	rs1157864395	missense variant	-	NC_000004.12:g.1956147G>A	gnomAD
NSD2	O96028	p.Arg947Cys	rs943974282	missense variant	-	NC_000004.12:g.1956146C>T	gnomAD
NSD2	O96028	p.Gly950Arg	rs1428724943	missense variant	-	NC_000004.12:g.1956155G>C	TOPMed
NSD2	O96028	p.Gly950Ala	rs1411838742	missense variant	-	NC_000004.12:g.1956156G>C	gnomAD
NSD2	O96028	p.Gly955Arg	rs934745655	missense variant	-	NC_000004.12:g.1956170G>A	gnomAD
NSD2	O96028	p.Lys959Arg	rs772127940	missense variant	-	NC_000004.12:g.1956183A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln963His	rs137974842	missense variant	-	NC_000004.12:g.1957940A>T	ESP,TOPMed,gnomAD
NSD2	O96028	p.Ala965Thr	rs779205776	missense variant	-	NC_000004.12:g.1957944G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala967Thr	rs746260679	missense variant	-	NC_000004.12:g.1957950G>A	ExAC,gnomAD
NSD2	O96028	p.Arg968His	RCV000623054	missense variant	Inborn genetic diseases	NC_000004.12:g.1957954G>A	ClinVar
NSD2	O96028	p.Arg968His	rs1553876858	missense variant	-	NC_000004.12:g.1957954G>A	-
NSD2	O96028	p.Arg970His	rs780274468	missense variant	-	NC_000004.12:g.1957960G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg970Cys	rs772239992	missense variant	-	NC_000004.12:g.1957959C>T	ExAC,gnomAD
NSD2	O96028	p.Arg979Ter	rs548600548	stop gained	-	NC_000004.12:g.1957986C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Gln982Glu	rs1472780335	missense variant	-	NC_000004.12:g.1957995C>G	gnomAD
NSD2	O96028	p.Glu985Lys	rs1416347752	missense variant	-	NC_000004.12:g.1958004G>A	gnomAD
NSD2	O96028	p.Pro989Leu	rs1286095958	missense variant	-	NC_000004.12:g.1958017C>T	TOPMed
NSD2	O96028	p.Lys998Glu	rs1309075149	missense variant	-	NC_000004.12:g.1959477A>G	gnomAD
NSD2	O96028	p.Tyr1000His	rs1291181242	missense variant	-	NC_000004.12:g.1959483T>C	TOPMed
NSD2	O96028	p.Gln1004Glu	rs1344700826	missense variant	-	NC_000004.12:g.1959495C>G	TOPMed
NSD2	O96028	p.Ile1005Leu	rs1018801461	missense variant	-	NC_000004.12:g.1959498A>C	TOPMed
NSD2	O96028	p.Tyr1006His	rs142100377	missense variant	-	NC_000004.12:g.1959501T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1008Val	rs758754683	missense variant	-	NC_000004.12:g.1959508C>T	ExAC,gnomAD
NSD2	O96028	p.Ala1008Gly	rs758754683	missense variant	-	NC_000004.12:g.1959508C>G	ExAC,gnomAD
NSD2	O96028	p.Pro1014Ala	rs972287878	missense variant	-	NC_000004.12:g.1959525C>G	TOPMed
NSD2	O96028	p.Thr1021Ala	rs1272076193	missense variant	-	NC_000004.12:g.1959546A>G	TOPMed,gnomAD
NSD2	O96028	p.Ser1030Ala	rs1409623677	missense variant	-	NC_000004.12:g.1959573T>G	gnomAD
NSD2	O96028	p.Pro1043Ala	rs1322396712	missense variant	-	NC_000004.12:g.1959612C>G	gnomAD
NSD2	O96028	p.Ala1048Val	rs745664737	missense variant	-	NC_000004.12:g.1959628C>T	ExAC,gnomAD
NSD2	O96028	p.Ala1048Thr	rs774234132	missense variant	-	NC_000004.12:g.1959627G>A	ExAC,gnomAD
NSD2	O96028	p.Glu1050Lys	rs1047838051	missense variant	-	NC_000004.12:g.1959633G>A	TOPMed,gnomAD
NSD2	O96028	p.Phe1051Tyr	rs1213391191	missense variant	-	NC_000004.12:g.1959637T>A	TOPMed
NSD2	O96028	p.Gln1061Arg	rs763723156	missense variant	-	NC_000004.12:g.1959667A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1066Arg	rs773691968	missense variant	-	NC_000004.12:g.1959682A>G	ExAC,gnomAD
NSD2	O96028	p.Ile1068Thr	rs1420145115	missense variant	-	NC_000004.12:g.1959688T>C	TOPMed,gnomAD
NSD2	O96028	p.Ala1079Thr	rs771867435	missense variant	-	NC_000004.12:g.1959720G>A	ExAC,gnomAD
NSD2	O96028	p.Ala1079Gly	rs1374595557	missense variant	-	NC_000004.12:g.1959721C>G	TOPMed
NSD2	O96028	p.Lys1080Arg	rs1162500705	missense variant	-	NC_000004.12:g.1959724A>G	gnomAD
NSD2	O96028	p.Arg1081Ser	rs756144891	missense variant	-	NC_000004.12:g.1959728G>T	ExAC,gnomAD
NSD2	O96028	p.Arg1084Thr	rs924346177	missense variant	-	NC_000004.12:g.1959736G>C	TOPMed
NSD2	O96028	p.Lys1085Asn	rs778057489	missense variant	-	NC_000004.12:g.1959740G>T	ExAC,gnomAD
NSD2	O96028	p.Glu1087Val	rs1256794829	missense variant	-	NC_000004.12:g.1961039A>T	gnomAD
NSD2	O96028	p.Val1093Ile	rs1440755101	missense variant	-	NC_000004.12:g.1961056G>A	TOPMed
NSD2	O96028	p.Asp1098Asn	rs1255636324	missense variant	-	NC_000004.12:g.1961071G>A	TOPMed
NSD2	O96028	p.Glu1099Lys	rs772470710	missense variant	-	NC_000004.12:g.1961074G>A	ExAC,gnomAD
NSD2	O96028	p.His1110Gln	rs754150618	missense variant	-	NC_000004.12:g.1961109C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp1113Asn	rs750479519	missense variant	-	NC_000004.12:g.1961116G>A	ExAC,gnomAD
NSD2	O96028	p.His1116Tyr	rs1295039148	missense variant	-	NC_000004.12:g.1961125C>T	TOPMed
NSD2	O96028	p.Ile1122Val	rs751318500	missense variant	-	NC_000004.12:g.1961143A>G	ExAC,gnomAD
NSD2	O96028	p.Pro1132Arg	rs778377665	missense variant	-	NC_000004.12:g.1974885C>G	ExAC,gnomAD
NSD2	O96028	p.Leu1151Phe	rs1251315025	missense variant	-	NC_000004.12:g.1974941C>T	TOPMed
NSD2	O96028	p.Arg1160Cys	rs1380951165	missense variant	-	NC_000004.12:g.1974968C>T	gnomAD
NSD2	O96028	p.Val1166Ile	rs375277590	missense variant	-	NC_000004.12:g.1974986G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp1168His	rs1460279946	missense variant	-	NC_000004.12:g.1974992G>C	TOPMed
NSD2	O96028	p.Ala1171Glu	rs769777776	missense variant	-	NC_000004.12:g.1975002C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1172Glu	rs770661384	missense variant	-	NC_000004.12:g.1975294G>A	ExAC,gnomAD
NSD2	O96028	p.Thr1173Arg	rs201530243	missense variant	-	NC_000004.12:g.1975297C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr1173Ser	rs1285311675	missense variant	-	NC_000004.12:g.1975296A>T	TOPMed
NSD2	O96028	p.Thr1173Met	rs201530243	missense variant	-	NC_000004.12:g.1975297C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1187Asp	rs1384015236	missense variant	-	NC_000004.12:g.1975340A>C	TOPMed,gnomAD
NSD2	O96028	p.Thr1189Met	rs758809828	missense variant	-	NC_000004.12:g.1975345C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1192Trp	rs751874982	missense variant	-	NC_000004.12:g.1975353C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1208Ile	rs1264602948	missense variant	-	NC_000004.12:g.1976476C>T	gnomAD
NSD2	O96028	p.Ser1209Leu	rs777823476	missense variant	-	NC_000004.12:g.1976479C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1210Met	rs756992765	missense variant	-	NC_000004.12:g.1976482C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1211Asn	rs878870013	missense variant	-	NC_000004.12:g.1976485C>A	gnomAD
NSD2	O96028	p.Thr1211Ser	rs778715134	missense variant	-	NC_000004.12:g.1976484A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu1212Val	rs945268423	missense variant	-	NC_000004.12:g.1976487C>G	TOPMed
NSD2	O96028	p.Glu1215Asp	rs1416610820	missense variant	-	NC_000004.12:g.1976498G>C	TOPMed
NSD2	O96028	p.Glu1216Gly	rs1290861908	missense variant	-	NC_000004.12:g.1976500A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1216Lys	rs1423726760	missense variant	-	NC_000004.12:g.1976499G>A	TOPMed
NSD2	O96028	p.Glu1216Val	rs1290861908	missense variant	-	NC_000004.12:g.1976500A>T	TOPMed,gnomAD
NSD2	O96028	p.Lys1220Met	rs746488285	missense variant	-	NC_000004.12:g.1976512A>T	ExAC,gnomAD
NSD2	O96028	p.Thr1221Ile	rs144327097	missense variant	-	NC_000004.12:g.1976515C>T	ESP,ExAC,gnomAD
NSD2	O96028	p.Thr1225Met	rs754405808	missense variant	-	NC_000004.12:g.1976527C>T	TOPMed
NSD2	O96028	p.Gly1232Arg	rs1256308174	missense variant	-	NC_000004.12:g.1976547G>A	TOPMed
NSD2	O96028	p.Glu1233Lys	rs1305960757	missense variant	-	NC_000004.12:g.1976550G>A	gnomAD
NSD2	O96028	p.Gly1234Glu	rs773694055	missense variant	-	NC_000004.12:g.1976554G>A	ExAC,gnomAD
NSD2	O96028	p.Gly1234Arg	rs1317326083	missense variant	-	NC_000004.12:g.1976553G>A	gnomAD
NSD2	O96028	p.Gln1237Arg	rs763391838	missense variant	-	NC_000004.12:g.1976563A>G	ExAC,gnomAD
NSD2	O96028	p.Glu1241Gln	rs774737951	missense variant	-	NC_000004.12:g.1976574G>C	ExAC,gnomAD
NSD2	O96028	p.Glu1241Lys	rs774737951	missense variant	-	NC_000004.12:g.1976574G>A	ExAC,gnomAD
NSD2	O96028	p.Arg1244His	rs1420066426	missense variant	-	NC_000004.12:g.1976584G>A	gnomAD
NSD2	O96028	p.Arg1244Cys	rs376629334	missense variant	-	NC_000004.12:g.1976583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1246Ser	rs1424067803	missense variant	-	NC_000004.12:g.1976589G>A	gnomAD
NSD2	O96028	p.Gly1249Arg	rs1367549846	missense variant	-	NC_000004.12:g.1976598G>A	gnomAD
NSD2	O96028	p.Gly1249Glu	rs1439876719	missense variant	-	NC_000004.12:g.1976599G>A	gnomAD
NSD2	O96028	p.Arg1256His	rs901340615	missense variant	-	NC_000004.12:g.1976620G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1262Val	rs1467938486	missense variant	-	NC_000004.12:g.1976638C>T	TOPMed
NSD2	O96028	p.Ser1266Cys	rs779674908	missense variant	-	NC_000004.12:g.1976650C>G	ExAC,gnomAD
NSD2	O96028	p.Arg1273Gln	rs1166649020	missense variant	-	NC_000004.12:g.1976671G>A	TOPMed,gnomAD
NSD2	O96028	p.Pro1274Leu	rs1251301694	missense variant	-	NC_000004.12:g.1976674C>T	TOPMed,gnomAD
NSD2	O96028	p.Phe1275Ile	rs1457835886	missense variant	-	NC_000004.12:g.1976676T>A	TOPMed
NSD2	O96028	p.Glu1279Asp	rs146059943	missense variant	-	NC_000004.12:g.1978648A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1291Leu	rs768972964	missense variant	-	NC_000004.12:g.1978683C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1294Leu	rs761945829	missense variant	-	NC_000004.12:g.1978692C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu1298Phe	rs1035199365	missense variant	-	NC_000004.12:g.1978703C>T	gnomAD
NSD2	O96028	p.Leu1298Val	rs1035199365	missense variant	-	NC_000004.12:g.1978703C>G	gnomAD
NSD2	O96028	p.Asn1301Ser	rs751306053	missense variant	-	NC_000004.12:g.1978713A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Phe1303Leu	rs767126550	missense variant	-	NC_000004.12:g.1978720C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1305Glu	rs1232165839	missense variant	-	NC_000004.12:g.1978724A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1306Gln	rs1346394191	missense variant	-	NC_000004.12:g.1978727G>C	gnomAD
NSD2	O96028	p.Gln1308His	rs752348506	missense variant	-	NC_000004.12:g.1978735G>C	ExAC,gnomAD
NSD2	O96028	p.Asp1309His	rs755643031	missense variant	-	NC_000004.12:g.1978736G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1310Glu	rs777078587	missense variant	-	NC_000004.12:g.1978740G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr1311Ala	rs142278631	missense variant	-	NC_000004.12:g.1978742A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1312Val	rs780733114	missense variant	-	NC_000004.12:g.1978746C>T	ExAC,gnomAD
NSD2	O96028	p.Ala1312Thr	rs515582	missense variant	-	NC_000004.12:g.1978745G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1312Ser	rs515582	missense variant	-	NC_000004.12:g.1978745G>T	TOPMed,gnomAD
NSD2	O96028	p.Phe1313Leu	rs1220405765	missense variant	-	NC_000004.12:g.1978748T>C	gnomAD
NSD2	O96028	p.Ser1314Arg	rs1418175764	missense variant	-	NC_000004.12:g.1978751A>C	TOPMed,gnomAD
NSD2	O96028	p.Ser1314Gly	rs1418175764	missense variant	-	NC_000004.12:g.1978751A>G	TOPMed,gnomAD
NSD2	O96028	p.Thr1316Ser	rs1268072056	missense variant	-	NC_000004.12:g.1978758C>G	gnomAD
NSD2	O96028	p.Pro1317Arg	rs769203933	missense variant	-	NC_000004.12:g.1978761C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1317Leu	rs769203933	missense variant	-	NC_000004.12:g.1978761C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1320Trp	rs151213547	missense variant	-	NC_000004.12:g.1978769C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1320Gln	rs773117985	missense variant	-	NC_000004.12:g.1978770G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1321Pro	rs763053114	missense variant	-	NC_000004.12:g.1978772T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1321Phe	rs951676878	missense variant	-	NC_000004.12:g.1978773C>T	gnomAD
NSD2	O96028	p.Cys1323Ser	rs759312671	missense variant	-	NC_000004.12:g.1978779G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Cys1323Tyr	rs759312671	missense variant	-	NC_000004.12:g.1978779G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1325Gly	rs985805727	missense variant	-	NC_000004.12:g.1978785A>G	gnomAD
NSD2	O96028	p.His1326Gln	rs752539028	missense variant	-	NC_000004.12:g.1978789T>G	ExAC,gnomAD
NSD2	O96028	p.His1326Tyr	rs1280330106	missense variant	-	NC_000004.12:g.1978787C>T	gnomAD
NSD2	O96028	p.Asp1327His	rs1244088714	missense variant	-	NC_000004.12:g.1978790G>C	gnomAD
NSD2	O96028	p.Asp1327Glu	rs1291087144	missense variant	-	NC_000004.12:g.1978792C>G	TOPMed,gnomAD
NSD2	O96028	p.Gly1329Ala	rs1161045853	missense variant	-	NC_000004.12:g.1978797G>C	TOPMed,gnomAD
NSD2	O96028	p.Gly1329Glu	rs1161045853	missense variant	-	NC_000004.12:g.1978797G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1330Thr	rs965788333	missense variant	-	NC_000004.12:g.1978799G>A	TOPMed
NSD2	O96028	p.Ala1330Val	rs760185069	missense variant	-	NC_000004.12:g.1978800C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1331Val	rs200615147	missense variant	-	NC_000004.12:g.1978803C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1332Leu	rs561070783	missense variant	-	NC_000004.12:g.1978806C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val1333Ala	rs755548968	missense variant	-	NC_000004.12:g.1978809T>C	ExAC,gnomAD
NSD2	O96028	p.Arg1334Gly	rs1459045548	missense variant	-	NC_000004.12:g.1978811A>G	TOPMed,gnomAD
NSD2	O96028	p.Ser1335Arg	rs934528153	missense variant	-	NC_000004.12:g.1978816C>G	gnomAD
NSD2	O96028	p.Thr1336Ile	rs769868346	missense variant	-	NC_000004.12:g.1978818C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1336Pro	rs139213191	missense variant	-	NC_000004.12:g.1978817A>C	ESP,ExAC
NSD2	O96028	p.Thr1336Ser	rs769868346	missense variant	-	NC_000004.12:g.1978818C>G	ExAC,gnomAD
NSD2	O96028	p.Thr1338Ile	rs1033243246	missense variant	-	NC_000004.12:g.1978824C>T	TOPMed
NSD2	O96028	p.Thr1338Ala	rs998624369	missense variant	-	NC_000004.12:g.1978823A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1339Lys	rs749348112	missense variant	-	NC_000004.12:g.1978826G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1340Asn	rs199956960	missense variant	-	NC_000004.12:g.1978831G>T	ESP,ExAC,TOPMed
NSD2	O96028	p.Lys1340Asn	rs199956960	missense variant	-	NC_000004.12:g.1978831G>C	ESP,ExAC,TOPMed
NSD2	O96028	p.Pro1341Ala	rs914518920	missense variant	-	NC_000004.12:g.1978832C>G	TOPMed,gnomAD
NSD2	O96028	p.Pro1341Thr	rs914518920	missense variant	-	NC_000004.12:g.1978832C>A	TOPMed,gnomAD
NSD2	O96028	p.Pro1341His	rs774265779	missense variant	-	NC_000004.12:g.1978833C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1341Leu	rs774265779	missense variant	-	NC_000004.12:g.1978833C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1341Arg	rs774265779	missense variant	-	NC_000004.12:g.1978833C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342His	rs201619712	missense variant	-	NC_000004.12:g.1978836C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Leu	rs201619712	missense variant	-	NC_000004.12:g.1978836C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Thr	rs535066596	missense variant	-	NC_000004.12:g.1978835C>A	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Arg	rs201619712	missense variant	-	NC_000004.12:g.1978836C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Ser	rs535066596	missense variant	-	NC_000004.12:g.1978835C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Leu	rs368799821	missense variant	-	NC_000004.12:g.1978839C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Ala	rs142054662	missense variant	-	NC_000004.12:g.1978838C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Gln	rs368799821	missense variant	-	NC_000004.12:g.1978839C>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Arg	rs368799821	missense variant	-	NC_000004.12:g.1978839C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Thr	rs142054662	missense variant	-	NC_000004.12:g.1978838C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Ser	rs142054662	missense variant	-	NC_000004.12:g.1978838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1344Lys	rs950025435	missense variant	-	NC_000004.12:g.1978841G>A	TOPMed,gnomAD
NSD2	O96028	p.Glu1344Gly	rs552288309	missense variant	-	NC_000004.12:g.1978842A>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Pro1345Ala	rs745966514	missense variant	-	NC_000004.12:g.1978844C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1345Ser	rs745966514	missense variant	-	NC_000004.12:g.1978844C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1347Asn	rs1172013755	missense variant	-	NC_000004.12:g.1978852G>C	gnomAD
NSD2	O96028	p.Pro1348Leu	rs370127436	missense variant	-	NC_000004.12:g.1978854C>T	ESP,TOPMed
NSD2	O96028	p.Lys1349Met	rs775533504	missense variant	-	NC_000004.12:g.1978857A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1349Asn	rs746770939	missense variant	-	NC_000004.12:g.1978858G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1351Thr	rs569412351	missense variant	-	NC_000004.12:g.1978863A>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1351Met	rs569412351	missense variant	-	NC_000004.12:g.1978863A>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1353Trp	rs761501519	missense variant	-	NC_000004.12:g.1978868C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1353Gln	rs1379056879	missense variant	-	NC_000004.12:g.1978869G>A	TOPMed
NSD2	O96028	p.Arg1354Gln	rs903302389	missense variant	-	NC_000004.12:g.1978872G>A	TOPMed,gnomAD
NSD2	O96028	p.Arg1355Trp	rs201148179	missense variant	-	NC_000004.12:g.1978874C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1355Pro	rs1280034307	missense variant	-	NC_000004.12:g.1978875G>C	TOPMed,gnomAD
NSD2	O96028	p.Arg1355Gln	rs1280034307	missense variant	-	NC_000004.12:g.1978875G>A	TOPMed,gnomAD
NSD2	O96028	p.Arg1356Lys	rs762564946	missense variant	-	NC_000004.12:g.1978878G>A	ExAC,gnomAD
NSD2	O96028	p.Gly1357Ser	rs767888998	missense variant	-	NC_000004.12:g.1978880G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1357Ala	rs753305456	missense variant	-	NC_000004.12:g.1978881G>C	ExAC,gnomAD
NSD2	O96028	p.Gly1357Asp	rs753305456	missense variant	-	NC_000004.12:g.1978881G>A	ExAC,gnomAD
NSD2	O96028	p.Trp1358Ter	rs1553881444	stop gained	-	NC_000004.12:g.1978885G>A	-
NSD2	O96028	p.Trp1358Ter	RCV000500590	nonsense	-	NC_000004.12:g.1978885G>A	ClinVar
NSD2	O96028	p.Arg1359Gly	rs764374372	missense variant	-	NC_000004.12:g.1978886C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1359Trp	rs764374372	missense variant	-	NC_000004.12:g.1978886C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val1361Ala	rs997272577	missense variant	-	NC_000004.12:g.1978893T>C	TOPMed
NSD2	O96028	p.Val1361Ile	rs757420003	missense variant	-	NC_000004.12:g.1978892G>A	ExAC,gnomAD
NSD2	O96028	p.Gly1364Ser	rs548852837	missense variant	-	NC_000004.12:g.1978901G>A	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1364Cys	rs548852837	missense variant	-	NC_000004.12:g.1978901G>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1365Glu	rs758550808	missense variant	-	NC_000004.12:g.1978904A>G	ExAC,gnomAD
NSD2	O96028	p.Phe3Leu	rs917196718	missense variant	-	NC_000004.12:g.1900663T>G	TOPMed
NSD2	O96028	p.Ser4Asn	rs753120179	missense variant	-	NC_000004.12:g.1900665G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser4Asn	RCV000273154	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900665G>A	ClinVar
NSD2	O96028	p.Gln7Glu	rs770543236	missense variant	-	NC_000004.12:g.1900673C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu10Val	rs1328532362	missense variant	-	NC_000004.12:g.1900682C>G	gnomAD
NSD2	O96028	p.Ser11Cys	rs199734752	missense variant	-	NC_000004.12:g.1900686C>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val12Leu	rs372147092	missense variant	-	NC_000004.12:g.1900688G>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser14Thr	rs769348800	missense variant	-	NC_000004.12:g.1900695G>C	ExAC,gnomAD
NSD2	O96028	p.Val16Ile	rs1350111590	missense variant	-	NC_000004.12:g.1900700G>A	gnomAD
NSD2	O96028	p.Val16Leu	rs1350111590	missense variant	-	NC_000004.12:g.1900700G>T	gnomAD
NSD2	O96028	p.Lys17Asn	rs762019994	missense variant	-	NC_000004.12:g.1900705G>C	ExAC,gnomAD
NSD2	O96028	p.Cys18Gly	rs1263717370	missense variant	-	NC_000004.12:g.1900706T>G	gnomAD
NSD2	O96028	p.Ile19Val	rs1464089790	missense variant	-	NC_000004.12:g.1900709A>G	gnomAD
NSD2	O96028	p.Lys20Asn	rs765662635	missense variant	-	NC_000004.12:g.1900714G>C	ExAC,gnomAD
NSD2	O96028	p.Gln23Glu	rs1198342544	missense variant	-	NC_000004.12:g.1900721C>G	gnomAD
NSD2	O96028	p.Pro25Thr	rs546312898	missense variant	-	NC_000004.12:g.1900727C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ile27Val	rs1362685503	missense variant	-	NC_000004.12:g.1900733A>G	gnomAD
NSD2	O96028	p.Gly29Ser	rs754895784	missense variant	-	NC_000004.12:g.1900739G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asn32Ser	rs1423297284	missense variant	-	NC_000004.12:g.1900749A>G	gnomAD
NSD2	O96028	p.Gly33Arg	rs774534172	missense variant	-	NC_000004.12:g.1900751G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys34Arg	rs1305185045	missense variant	-	NC_000004.12:g.1900755A>G	gnomAD
NSD2	O96028	p.Lys34Asn	rs777673792	missense variant	-	NC_000004.12:g.1900756G>T	ExAC,gnomAD
NSD2	O96028	p.Thr35Ala	rs748919506	missense variant	-	NC_000004.12:g.1900757A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro36Leu	rs778558019	missense variant	-	NC_000004.12:g.1900761C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu39Gly	rs1400660779	missense variant	-	NC_000004.12:g.1900770A>G	TOPMed
NSD2	O96028	p.Glu39Lys	rs1490792778	missense variant	-	NC_000004.12:g.1900769G>A	gnomAD
NSD2	O96028	p.Glu43Lys	rs1165866735	missense variant	-	NC_000004.12:g.1900781G>A	TOPMed
NSD2	O96028	p.Cys44Phe	rs1249333230	missense variant	-	NC_000004.12:g.1900785G>T	gnomAD
NSD2	O96028	p.Gln52Ter	RCV000760760	nonsense	-	NC_000004.12:g.1900808C>T	ClinVar
NSD2	O96028	p.Gln52Ter	rs748707745	stop gained	-	NC_000004.12:g.1900808C>T	ExAC,gnomAD
NSD2	O96028	p.Ser55Gly	rs770028586	missense variant	-	NC_000004.12:g.1900817A>G	ExAC,gnomAD
NSD2	O96028	p.Ser56Gly	rs773660936	missense variant	-	NC_000004.12:g.1900820A>G	ExAC,gnomAD
NSD2	O96028	p.Leu57Met	rs546522074	missense variant	-	NC_000004.12:g.1900823C>A	gnomAD
NSD2	O96028	p.Glu59Lys	rs1443100451	missense variant	-	NC_000004.12:g.1900829G>A	TOPMed
NSD2	O96028	p.Gly60Arg	rs1366552622	missense variant	-	NC_000004.12:g.1900832G>A	TOPMed,gnomAD
NSD2	O96028	p.Met62Val	rs890741591	missense variant	-	NC_000004.12:g.1900838A>G	TOPMed,gnomAD
NSD2	O96028	p.Met62Thr	rs766646098	missense variant	-	NC_000004.12:g.1900839T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly67Ser	RCV000269913	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900853G>A	ClinVar
NSD2	O96028	p.Gly67Ser	rs202235551	missense variant	-	NC_000004.12:g.1900853G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.His68Arg	rs752556934	missense variant	-	NC_000004.12:g.1900857A>G	ExAC,gnomAD
NSD2	O96028	p.Asp69Asn	rs1401743505	missense variant	-	NC_000004.12:g.1900859G>A	gnomAD
NSD2	O96028	p.Ala70Asp	rs757135156	missense variant	-	NC_000004.12:g.1900863C>A	ExAC,gnomAD
NSD2	O96028	p.Ala70Thr	rs753748334	missense variant	-	NC_000004.12:g.1900862G>A	ExAC,gnomAD
NSD2	O96028	p.Leu71Pro	rs1197242726	missense variant	-	NC_000004.12:g.1900866T>C	gnomAD
NSD2	O96028	p.Pro75Ala	rs748567663	missense variant	-	NC_000004.12:g.1900877C>G	ExAC,gnomAD
NSD2	O96028	p.Ala76Ser	rs770395467	missense variant	-	NC_000004.12:g.1900880G>T	ExAC,gnomAD
NSD2	O96028	p.Ala76Thr	rs770395467	missense variant	-	NC_000004.12:g.1900880G>A	ExAC,gnomAD
NSD2	O96028	p.Asp77Glu	rs200621548	missense variant	-	NC_000004.12:g.1900885C>G	TOPMed
NSD2	O96028	p.Asp77Asn	rs749595883	missense variant	-	NC_000004.12:g.1900883G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp81Tyr	rs771287635	missense variant	-	NC_000004.12:g.1900895G>T	ExAC,gnomAD
NSD2	O96028	p.Arg85Trp	rs201573732	missense variant	-	NC_000004.12:g.1900907C>T	ExAC,gnomAD
NSD2	O96028	p.Arg85Gln	rs759803629	missense variant	-	NC_000004.12:g.1900908G>A	ExAC,gnomAD
NSD2	O96028	p.Gly89Glu	rs772015827	missense variant	-	NC_000004.12:g.1900920G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly92Ser	rs764038848	missense variant	-	NC_000004.12:g.1900928G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala93Thr	rs761663126	missense variant	-	NC_000004.12:g.1900931G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His94Tyr	rs1260819566	missense variant	-	NC_000004.12:g.1900934C>T	gnomAD
NSD2	O96028	p.Ala96Ser	rs1263035862	missense variant	-	NC_000004.12:g.1900940G>T	gnomAD
NSD2	O96028	p.Lys97Gln	rs909009733	missense variant	-	NC_000004.12:g.1900943A>C	TOPMed,gnomAD
NSD2	O96028	p.Lys97Glu	rs909009733	missense variant	-	NC_000004.12:g.1900943A>G	TOPMed,gnomAD
NSD2	O96028	p.Lys97Thr	rs376638264	missense variant	-	NC_000004.12:g.1900944A>C	ESP,TOPMed,gnomAD
NSD2	O96028	p.Lys97Arg	rs376638264	missense variant	-	NC_000004.12:g.1900944A>G	ESP,TOPMed,gnomAD
NSD2	O96028	p.Leu98Val	rs758105062	missense variant	-	NC_000004.12:g.1900946C>G	ExAC,gnomAD
NSD2	O96028	p.Leu98Arg	rs1261446605	missense variant	-	NC_000004.12:g.1900947T>G	gnomAD
NSD2	O96028	p.Arg99Cys	rs779422565	missense variant	-	NC_000004.12:g.1900949C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg99His	rs751138696	missense variant	-	NC_000004.12:g.1900950G>A	ExAC,gnomAD
NSD2	O96028	p.Glu101Asp	rs925579283	missense variant	-	NC_000004.12:g.1900957G>C	TOPMed
NSD2	O96028	p.Ser102Thr	rs754460633	missense variant	-	NC_000004.12:g.1900958T>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser102Cys	rs778184509	missense variant	-	NC_000004.12:g.1900959C>G	ExAC,gnomAD
NSD2	O96028	p.Gln103Glu	rs749825396	missense variant	-	NC_000004.12:g.1900961C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln103Arg	rs974437164	missense variant	-	NC_000004.12:g.1900962A>G	TOPMed,gnomAD
NSD2	O96028	p.Met105Val	rs1428525782	missense variant	-	NC_000004.12:g.1900967A>G	gnomAD
NSD2	O96028	p.Lys106Glu	rs1271075487	missense variant	-	NC_000004.12:g.1900970A>G	TOPMed
NSD2	O96028	p.Gly107Arg	rs771265108	missense variant	-	NC_000004.12:g.1900973G>A	ExAC,gnomAD
NSD2	O96028	p.Ile108Phe	rs1362608884	missense variant	-	NC_000004.12:g.1900976A>T	gnomAD
NSD2	O96028	p.Pro111Thr	rs541714722	missense variant	-	NC_000004.12:g.1900985C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Pro111Leu	rs746073848	missense variant	-	NC_000004.12:g.1900986C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro111Arg	rs746073848	missense variant	-	NC_000004.12:g.1900986C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro112Thr	rs1192924102	missense variant	-	NC_000004.12:g.1900988C>A	gnomAD
NSD2	O96028	p.Pro112Arg	rs1322308834	missense variant	-	NC_000004.12:g.1900989C>G	gnomAD
NSD2	O96028	p.Thr114Ser	rs200319561	missense variant	-	NC_000004.12:g.1900995C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro116Ser	rs564864503	missense variant	-	NC_000004.12:g.1901000C>T	gnomAD
NSD2	O96028	p.Ile117Thr	rs78479906	missense variant	-	NC_000004.12:g.1901004T>C	1000Genomes,ExAC
NSD2	O96028	p.Ile117Val	rs775593120	missense variant	-	NC_000004.12:g.1901003A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser121Cys	rs1196229263	missense variant	-	NC_000004.12:g.1901016C>G	gnomAD
NSD2	O96028	p.Ser121Pro	rs1486493780	missense variant	-	NC_000004.12:g.1901015T>C	gnomAD
NSD2	O96028	p.Ile128Val	rs1175154998	missense variant	-	NC_000004.12:g.1901036A>G	gnomAD
NSD2	O96028	p.Met133Thr	rs140401180	missense variant	-	NC_000004.12:g.1901052T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly135Arg	rs765090322	missense variant	-	NC_000004.12:g.1901057G>A	ExAC,gnomAD
NSD2	O96028	p.Leu138Val	rs1421443584	missense variant	-	NC_000004.12:g.1901066C>G	gnomAD
NSD2	O96028	p.Ile143Met	rs762496382	missense variant	-	NC_000004.12:g.1901083T>G	ExAC,gnomAD
NSD2	O96028	p.Cys144Tyr	rs373286964	missense variant	-	NC_000004.12:g.1901085G>A	ESP,TOPMed
NSD2	O96028	p.Ser147Thr	rs765998236	missense variant	-	NC_000004.12:g.1901094G>C	ExAC,TOPMed
NSD2	O96028	p.Ala149Thr	rs145603828	missense variant	-	NC_000004.12:g.1901099G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val151Ala	rs754468750	missense variant	-	NC_000004.12:g.1901106T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu155Lys	rs754314502	missense variant	-	NC_000004.12:g.1901117G>A	ExAC,gnomAD
NSD2	O96028	p.Asn157Thr	rs757829574	missense variant	-	NC_000004.12:g.1901124A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly158Arg	rs779235854	missense variant	-	NC_000004.12:g.1901126G>A	ExAC,gnomAD
NSD2	O96028	p.Pro161Thr	rs568583435	missense variant	-	NC_000004.12:g.1901135C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Glu162Gln	rs758697327	missense variant	-	NC_000004.12:g.1901138G>C	ExAC,gnomAD
NSD2	O96028	p.Asn163Lys	rs780286540	missense variant	-	NC_000004.12:g.1901143C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala165Val	rs373161300	missense variant	-	NC_000004.12:g.1901148C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg167Ser	rs1324420839	missense variant	-	NC_000004.12:g.1901155G>T	TOPMed
NSD2	O96028	p.Arg171Lys	rs768831620	missense variant	-	NC_000004.12:g.1901166G>A	ExAC,gnomAD
NSD2	O96028	p.Arg171Thr	rs768831620	missense variant	-	NC_000004.12:g.1901166G>C	ExAC,gnomAD
NSD2	O96028	p.Ile173Met	rs1441448478	missense variant	-	NC_000004.12:g.1901173A>G	gnomAD
NSD2	O96028	p.Ile173Val	rs1055872699	missense variant	-	NC_000004.12:g.1901171A>G	TOPMed
NSD2	O96028	p.Lys174Thr	rs776888983	missense variant	-	NC_000004.12:g.1901175A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr175Cys	rs748089712	missense variant	-	NC_000004.12:g.1901178A>G	ExAC,TOPMed
NSD2	O96028	p.Leu178Ser	rs1325306850	missense variant	-	NC_000004.12:g.1901187T>C	gnomAD
NSD2	O96028	p.Glu180Asp	rs1352348277	missense variant	-	NC_000004.12:g.1901194G>T	gnomAD
NSD2	O96028	p.Gln181Arg	rs994171255	missense variant	-	NC_000004.12:g.1901196A>G	TOPMed,gnomAD
NSD2	O96028	p.Gln181His	rs769906407	missense variant	-	NC_000004.12:g.1901197G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly182Ser	rs773295682	missense variant	-	NC_000004.12:g.1901198G>A	ExAC,gnomAD
NSD2	O96028	p.Gly182Asp	rs1026029934	missense variant	-	NC_000004.12:g.1901199G>A	TOPMed,gnomAD
NSD2	O96028	p.Leu183Val	rs1024108009	missense variant	-	NC_000004.12:g.1901201C>G	TOPMed
NSD2	O96028	p.Val184Ala	rs1313506074	missense variant	-	NC_000004.12:g.1901205T>C	TOPMed,gnomAD
NSD2	O96028	p.Leu188Val	RCV000279153	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1901216C>G	ClinVar
NSD2	O96028	p.Leu188Phe	rs886059315	missense variant	-	NC_000004.12:g.1901216C>T	gnomAD
NSD2	O96028	p.Leu188Val	rs886059315	missense variant	-	NC_000004.12:g.1901216C>G	gnomAD
NSD2	O96028	p.Val189Met	rs1292473830	missense variant	-	NC_000004.12:g.1901219G>A	gnomAD
NSD2	O96028	p.Ile192Val	rs1436285466	missense variant	-	NC_000004.12:g.1901228A>G	TOPMed,gnomAD
NSD2	O96028	p.Pro195Leu	rs752263356	missense variant	-	NC_000004.12:g.1901238C>T	ExAC,gnomAD
NSD2	O96028	p.Glu205Gln	rs1398870006	missense variant	-	NC_000004.12:g.1904231G>C	gnomAD
NSD2	O96028	p.Ser206Cys	rs1325234907	missense variant	-	NC_000004.12:g.1904235C>G	TOPMed,gnomAD
NSD2	O96028	p.Pro208Thr	rs1430402689	missense variant	-	NC_000004.12:g.1904240C>A	gnomAD
NSD2	O96028	p.Thr210Ala	rs766759466	missense variant	-	NC_000004.12:g.1904246A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly211Glu	rs192103195	missense variant	-	NC_000004.12:g.1904250G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Arg212Gly	rs781497272	missense variant	-	NC_000004.12:g.1904252A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg212Thr	rs1345867166	missense variant	-	NC_000004.12:g.1904253G>C	gnomAD
NSD2	O96028	p.Lys214Glu	rs1373329229	missense variant	-	NC_000004.12:g.1904258A>G	TOPMed
NSD2	O96028	p.Asp215Gly	rs756213696	missense variant	-	NC_000004.12:g.1904262A>G	ExAC,gnomAD
NSD2	O96028	p.His216Tyr	rs557801913	missense variant	-	NC_000004.12:g.1904264C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Asn221Ser	rs577771710	missense variant	-	NC_000004.12:g.1904280A>G	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val222Ile	rs150146753	missense variant	-	NC_000004.12:g.1904282G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val230Ala	rs1460755399	missense variant	-	NC_000004.12:g.1904307T>C	TOPMed
NSD2	O96028	p.Ser231Leu	rs750127826	missense variant	-	NC_000004.12:g.1904310C>T	ExAC,gnomAD
NSD2	O96028	p.Gly232Arg	rs768184951	missense variant	-	NC_000004.12:g.1904312G>C	ExAC,gnomAD
NSD2	O96028	p.Trp236Ter	RCV000736076	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1904326G>A	ClinVar
NSD2	O96028	p.Met239Val	rs1403312398	missense variant	-	NC_000004.12:g.1904333A>G	gnomAD
NSD2	O96028	p.Leu245Phe	rs776067673	missense variant	-	NC_000004.12:g.1904351C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu245Val	rs776067673	missense variant	-	NC_000004.12:g.1904351C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser248Asn	rs1235439143	missense variant	-	NC_000004.12:g.1904361G>A	gnomAD
NSD2	O96028	p.Tyr249His	rs1241410661	missense variant	-	NC_000004.12:g.1904363T>C	TOPMed,gnomAD
NSD2	O96028	p.Lys251Arg	rs766736390	missense variant	-	NC_000004.12:g.1904370A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln265Ter	RCV000736077	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1916903C>T	ClinVar
NSD2	O96028	p.Ala270Thr	rs372805518	missense variant	-	NC_000004.12:g.1916918G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Ala270Val	rs556204462	missense variant	-	NC_000004.12:g.1916919C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Ala274Thr	rs754123039	missense variant	-	NC_000004.12:g.1916930G>A	ExAC,gnomAD
NSD2	O96028	p.Ala274Ser	rs754123039	missense variant	-	NC_000004.12:g.1916930G>T	ExAC,gnomAD
NSD2	O96028	p.Ile276Met	rs757238305	missense variant	-	NC_000004.12:g.1916938A>G	ExAC,gnomAD
NSD2	O96028	p.Phe277Leu	rs377282154	missense variant	-	NC_000004.12:g.1916939T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu278Asp	rs773417934	missense variant	-	NC_000004.12:g.1916944G>C	TOPMed,gnomAD
NSD2	O96028	p.Ser280Gly	rs1162158242	missense variant	-	NC_000004.12:g.1916948A>G	gnomAD
NSD2	O96028	p.Leu281Ile	rs750333708	missense variant	-	NC_000004.12:g.1916951C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val282Ile	rs1033486520	missense variant	-	NC_000004.12:g.1916954G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala283Gly	rs1466344253	missense variant	-	NC_000004.12:g.1916958C>G	gnomAD
NSD2	O96028	p.Glu287Gly	rs746743921	missense variant	-	NC_000004.12:g.1916970A>G	ExAC,gnomAD
NSD2	O96028	p.Gly288Glu	rs754805178	missense variant	-	NC_000004.12:g.1916973G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu291Gly	rs1303399819	missense variant	-	NC_000004.12:g.1916982A>G	gnomAD
NSD2	O96028	p.Cys294Phe	rs1334376909	missense variant	-	NC_000004.12:g.1916991G>T	gnomAD
NSD2	O96028	p.Cys294Gly	rs769162551	missense variant	-	NC_000004.12:g.1916990T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Cys294Arg	rs769162551	missense variant	-	NC_000004.12:g.1916990T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln295Leu	rs144431814	missense variant	-	NC_000004.12:g.1916994A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln295Leu	RCV000391888	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1916994A>T	ClinVar
NSD2	O96028	p.Gln295Arg	rs144431814	missense variant	-	NC_000004.12:g.1916994A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu296Gly	rs746372645	missense variant	-	NC_000004.12:g.1916997A>G	ExAC
NSD2	O96028	p.Pro302Ser	rs202207779	missense variant	-	NC_000004.12:g.1917014C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala305Val	rs1260679780	missense variant	-	NC_000004.12:g.1917024C>T	gnomAD
NSD2	O96028	p.Glu306Gly	rs1356191814	missense variant	-	NC_000004.12:g.1917027A>G	TOPMed,gnomAD
NSD2	O96028	p.Ile308Thr	rs967018941	missense variant	-	NC_000004.12:g.1917033T>C	TOPMed
NSD2	O96028	p.Ile308Met	rs760909823	missense variant	-	NC_000004.12:g.1917034T>G	ExAC,gnomAD
NSD2	O96028	p.Leu311Phe	rs1238040522	missense variant	-	NC_000004.12:g.1918146G>T	gnomAD
NSD2	O96028	p.Ile314Val	rs371529672	missense variant	-	NC_000004.12:g.1918153A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile314Val	RCV000339914	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918153A>G	ClinVar
NSD2	O96028	p.Ser315Ala	rs770598241	missense variant	-	NC_000004.12:g.1918156T>G	ExAC,gnomAD
NSD2	O96028	p.Ser315Leu	rs1488845434	missense variant	-	NC_000004.12:g.1918157C>T	gnomAD
NSD2	O96028	p.Arg319Lys	rs1266982310	missense variant	-	NC_000004.12:g.1918169G>A	gnomAD
NSD2	O96028	p.Ala320Thr	rs747603711	missense variant	-	NC_000004.12:g.1918171G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln321His	rs1427424974	missense variant	-	NC_000004.12:g.1918176G>T	gnomAD
NSD2	O96028	p.Val327Phe	rs1380872489	missense variant	-	NC_000004.12:g.1918192G>T	TOPMed,gnomAD
NSD2	O96028	p.Gln328Glu	rs761932000	missense variant	-	NC_000004.12:g.1918195C>G	ExAC,gnomAD
NSD2	O96028	p.Ala333Val	rs1359955856	missense variant	-	NC_000004.12:g.1918211C>T	TOPMed
NSD2	O96028	p.Ser334Gly	rs1294763394	missense variant	-	NC_000004.12:g.1918213A>G	gnomAD
NSD2	O96028	p.Met335Val	rs762977766	missense variant	-	NC_000004.12:g.1918216A>G	ExAC,gnomAD
NSD2	O96028	p.Met335Leu	rs762977766	missense variant	-	NC_000004.12:g.1918216A>C	ExAC,gnomAD
NSD2	O96028	p.Met335Thr	rs1238576646	missense variant	-	NC_000004.12:g.1918217T>C	gnomAD
NSD2	O96028	p.Ser336Leu	rs1355075058	missense variant	-	NC_000004.12:g.1918220C>T	gnomAD
NSD2	O96028	p.Ser336Pro	rs766466000	missense variant	-	NC_000004.12:g.1918219T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val337Glu	rs1432951280	missense variant	-	NC_000004.12:g.1918223T>A	TOPMed
NSD2	O96028	p.Arg340Gln	rs1159806209	missense variant	-	NC_000004.12:g.1918232G>A	TOPMed
NSD2	O96028	p.Phe344Tyr	rs1288253121	missense variant	-	NC_000004.12:g.1918244T>A	gnomAD
NSD2	O96028	p.Thr345Ile	rs1422010407	missense variant	-	NC_000004.12:g.1918247C>T	TOPMed
NSD2	O96028	p.Phe346Ile	rs759556940	missense variant	-	NC_000004.12:g.1918249T>A	ExAC
NSD2	O96028	p.Tyr348Phe	rs752594374	missense variant	-	NC_000004.12:g.1918256A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr348Cys	rs752594374	missense variant	-	NC_000004.12:g.1918256A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr348His	rs1248495684	missense variant	-	NC_000004.12:g.1918255T>C	gnomAD
NSD2	O96028	p.Val349Met	rs777528706	missense variant	-	NC_000004.12:g.1918258G>A	ExAC,gnomAD
NSD2	O96028	p.Gly350Glu	rs1238838764	missense variant	-	NC_000004.12:g.1918262G>A	TOPMed
NSD2	O96028	p.Asp351Glu	rs1161442762	missense variant	-	NC_000004.12:g.1918266C>A	gnomAD
NSD2	O96028	p.Leu353Val	rs1185258343	missense variant	-	NC_000004.12:g.1918270C>G	TOPMed
NSD2	O96028	p.His354Leu	rs1485072620	missense variant	-	NC_000004.12:g.1918274A>T	TOPMed
NSD2	O96028	p.Val359Leu	rs1405575368	missense variant	-	NC_000004.12:g.1918288G>T	gnomAD
NSD2	O96028	p.Ala360Asp	rs1166527461	missense variant	-	NC_000004.12:g.1918292C>A	TOPMed,gnomAD
NSD2	O96028	p.Ala360Val	rs1166527461	missense variant	-	NC_000004.12:g.1918292C>T	TOPMed,gnomAD
NSD2	O96028	p.Lys361Arg	rs1445338131	missense variant	-	NC_000004.12:g.1918295A>G	gnomAD
NSD2	O96028	p.Lys361Gln	rs199762353	missense variant	-	NC_000004.12:g.1918294A>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu362Val	rs747469766	missense variant	-	NC_000004.12:g.1918298A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu362Asp	rs769268150	missense variant	-	NC_000004.12:g.1918299G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala363Thr	rs1449724087	missense variant	-	NC_000004.12:g.1918300G>A	gnomAD
NSD2	O96028	p.Ala366Val	rs1356140581	missense variant	-	NC_000004.12:g.1918310C>T	gnomAD
NSD2	O96028	p.Ala367Val	rs1229281568	missense variant	-	NC_000004.12:g.1918313C>T	TOPMed,gnomAD
NSD2	O96028	p.Glu368Lys	rs1292228347	missense variant	-	NC_000004.12:g.1918315G>A	gnomAD
NSD2	O96028	p.Ser369Tyr	rs1198012129	missense variant	-	NC_000004.12:g.1918319C>A	gnomAD
NSD2	O96028	p.Ser369Pro	rs1316305610	missense variant	-	NC_000004.12:g.1918318T>C	gnomAD
NSD2	O96028	p.Leu370Ser	rs1238938071	missense variant	-	NC_000004.12:g.1918322T>C	TOPMed,gnomAD
NSD2	O96028	p.Gly371Glu	rs1340467827	missense variant	-	NC_000004.12:g.1918325G>A	gnomAD
NSD2	O96028	p.Ala374Glu	rs773370922	missense variant	-	NC_000004.12:g.1918334C>A	ExAC,gnomAD
NSD2	O96028	p.Ala374Val	rs773370922	missense variant	-	NC_000004.12:g.1918334C>T	ExAC,gnomAD
NSD2	O96028	p.Ala374Thr	rs770171601	missense variant	-	NC_000004.12:g.1918333G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu375Lys	rs763209260	missense variant	-	NC_000004.12:g.1918336G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser376Phe	rs1472983214	missense variant	-	NC_000004.12:g.1918340C>T	gnomAD
NSD2	O96028	p.Gly378Glu	rs140212386	missense variant	-	NC_000004.12:g.1918346G>A	ESP,TOPMed
NSD2	O96028	p.Val379Ile	rs770966499	missense variant	-	NC_000004.12:g.1918348G>A	ExAC,gnomAD
NSD2	O96028	p.Val379Phe	rs770966499	missense variant	-	NC_000004.12:g.1918348G>T	ExAC,gnomAD
NSD2	O96028	p.Ser380Asn	rs1416878451	missense variant	-	NC_000004.12:g.1918352G>A	gnomAD
NSD2	O96028	p.Ser380Arg	rs774556109	missense variant	-	NC_000004.12:g.1918353T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu382Lys	rs759377936	missense variant	-	NC_000004.12:g.1918357G>A	ExAC,gnomAD
NSD2	O96028	p.Ala383Gly	rs1401905410	missense variant	-	NC_000004.12:g.1918361C>G	TOPMed,gnomAD
NSD2	O96028	p.Ala384Thr	rs767422079	missense variant	-	NC_000004.12:g.1918363G>A	ExAC,gnomAD
NSD2	O96028	p.Pro387Ala	rs1340418858	missense variant	-	NC_000004.12:g.1918372C>G	gnomAD
NSD2	O96028	p.Lys388Thr	rs760499309	missense variant	-	NC_000004.12:g.1918376A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Arg	rs760499309	missense variant	-	NC_000004.12:g.1918376A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Asn	rs753512534	missense variant	-	NC_000004.12:g.1918377G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys388Asn	rs753512534	missense variant	-	NC_000004.12:g.1918377G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser389Pro	rs1338705176	missense variant	-	NC_000004.12:g.1918378T>C	gnomAD
NSD2	O96028	p.Val390Leu	rs749895097	missense variant	-	NC_000004.12:g.1918381G>C	ExAC,gnomAD
NSD2	O96028	p.Arg391Gly	rs890082810	missense variant	-	NC_000004.12:g.1918384A>G	TOPMed
NSD2	O96028	p.Cys394Tyr	rs1320151142	missense variant	-	NC_000004.12:g.1918394G>A	TOPMed,gnomAD
NSD2	O96028	p.Cys394Phe	rs1320151142	missense variant	-	NC_000004.12:g.1918394G>T	TOPMed,gnomAD
NSD2	O96028	p.Ile395Val	rs757846841	missense variant	-	NC_000004.12:g.1918396A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg401Gln	rs748673417	missense variant	-	NC_000004.12:g.1918415G>A	ExAC,gnomAD
NSD2	O96028	p.Arg401Trp	rs1211896693	missense variant	-	NC_000004.12:g.1918414C>T	TOPMed,gnomAD
NSD2	O96028	p.Arg402Lys	rs1477277482	missense variant	-	NC_000004.12:g.1918418G>A	gnomAD
NSD2	O96028	p.Glu410Asp	rs1323304367	missense variant	-	NC_000004.12:g.1918443G>T	TOPMed
NSD2	O96028	p.Glu410Val	rs1222147246	missense variant	-	NC_000004.12:g.1918442A>T	TOPMed
NSD2	O96028	p.Thr411Ile	rs1270991536	missense variant	-	NC_000004.12:g.1918445C>T	TOPMed
NSD2	O96028	p.Ser414Thr	rs1171494347	missense variant	-	NC_000004.12:g.1918454G>C	gnomAD
NSD2	O96028	p.Pro416Ser	rs1278980140	missense variant	-	NC_000004.12:g.1918459C>T	TOPMed
NSD2	O96028	p.Asp417Asn	rs745921448	missense variant	-	NC_000004.12:g.1918462G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly419Glu	rs544842635	missense variant	-	NC_000004.12:g.1918469G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys420Glu	rs775476451	missense variant	-	NC_000004.12:g.1918471A>G	ExAC,gnomAD
NSD2	O96028	p.Ser421Arg	rs1202036637	missense variant	-	NC_000004.12:g.1918474A>C	TOPMed,gnomAD
NSD2	O96028	p.Thr422Ile	rs1027089911	missense variant	-	NC_000004.12:g.1918478C>T	TOPMed
NSD2	O96028	p.Pro423Leu	rs1231087793	missense variant	-	NC_000004.12:g.1918481C>T	TOPMed,gnomAD
NSD2	O96028	p.Pro423Ser	rs775406978	missense variant	-	NC_000004.12:g.1918480C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr426Met	rs200784805	missense variant	-	NC_000004.12:g.1918490C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu428Asp	rs764880891	missense variant	-	NC_000004.12:g.1918497G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala429Asp	rs1418109519	missense variant	-	NC_000004.12:g.1918499C>A	TOPMed
NSD2	O96028	p.Pro431Ser	rs1217095015	missense variant	-	NC_000004.12:g.1918504C>T	TOPMed,gnomAD
NSD2	O96028	p.Arg432Ser	rs757872063	missense variant	-	NC_000004.12:g.1918509A>C	ExAC,gnomAD
NSD2	O96028	p.Arg432Gly	rs1449515277	missense variant	-	NC_000004.12:g.1918507A>G	gnomAD
NSD2	O96028	p.Val435Ile	rs765853067	missense variant	-	NC_000004.12:g.1918516G>A	ExAC,gnomAD
NSD2	O96028	p.Gly436Val	rs769930210	missense variant	-	NC_000004.12:g.1918520G>T	ExAC,gnomAD
NSD2	O96028	p.Gly436Glu	rs769930210	missense variant	-	NC_000004.12:g.1918520G>A	ExAC,gnomAD
NSD2	O96028	p.Gly436Arg	rs1478631765	missense variant	-	NC_000004.12:g.1918519G>A	gnomAD
NSD2	O96028	p.Pro438Leu	rs533653843	missense variant	-	NC_000004.12:g.1918526C>T	gnomAD
NSD2	O96028	p.Pro439Ser	rs1024984881	missense variant	-	NC_000004.12:g.1918528C>T	TOPMed,gnomAD
NSD2	O96028	p.Pro439Leu	rs1299204529	missense variant	-	NC_000004.12:g.1918529C>T	gnomAD
NSD2	O96028	p.Pro439Ala	rs1024984881	missense variant	-	NC_000004.12:g.1918528C>G	TOPMed,gnomAD
NSD2	O96028	p.Arg441Trp	rs1258951493	missense variant	-	NC_000004.12:g.1918534A>T	TOPMed
NSD2	O96028	p.Lys442Arg	rs778096764	missense variant	-	NC_000004.12:g.1918538A>G	ExAC,gnomAD
NSD2	O96028	p.Thr444Ala	RCV000309220	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918543A>G	ClinVar
NSD2	O96028	p.Thr444Ala	rs112014939	missense variant	-	NC_000004.12:g.1918543A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr444Asn	rs1235550316	missense variant	-	NC_000004.12:g.1918544C>A	gnomAD
NSD2	O96028	p.Ser447Cys	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>G	TOPMed,gnomAD
NSD2	O96028	p.Ser447Tyr	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>A	TOPMed,gnomAD
NSD2	O96028	p.Ser447Phe	rs1306925576	missense variant	-	NC_000004.12:g.1918553C>T	TOPMed,gnomAD
NSD2	O96028	p.Met448Val	rs1352916117	missense variant	-	NC_000004.12:g.1918555A>G	gnomAD
NSD2	O96028	p.Met448Ile	rs1220362986	missense variant	-	NC_000004.12:g.1918557G>T	TOPMed
NSD2	O96028	p.Pro449Ser	rs757593548	missense variant	-	NC_000004.12:g.1918558C>T	ExAC,gnomAD
NSD2	O96028	p.Arg450Gln	rs146822227	missense variant	-	NC_000004.12:g.1918562G>A	1000Genomes,ExAC
NSD2	O96028	p.Ser451Gly	rs746127427	missense variant	-	NC_000004.12:g.1918564A>G	ExAC,gnomAD
NSD2	O96028	p.Ser451Asn	rs528156709	missense variant	-	NC_000004.12:g.1918565G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Arg452Lys	rs775781891	missense variant	-	NC_000004.12:g.1918568G>A	ExAC,gnomAD
NSD2	O96028	p.Asp455Gly	rs551480723	missense variant	-	NC_000004.12:g.1918577A>G	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala456Pro	rs1301786203	missense variant	-	NC_000004.12:g.1918579G>C	TOPMed
NSD2	O96028	p.Ala456Gly	rs1173566157	missense variant	-	NC_000004.12:g.1918580C>G	gnomAD
NSD2	O96028	p.Gln459Arg	rs768660174	missense variant	-	NC_000004.12:g.1918589A>G	ExAC,gnomAD
NSD2	O96028	p.Leu461Phe	rs776718972	missense variant	-	NC_000004.12:g.1918596G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val462Ile	rs909812134	missense variant	-	NC_000004.12:g.1918597G>A	TOPMed,gnomAD
NSD2	O96028	p.Phe463Cys	rs1460113219	missense variant	-	NC_000004.12:g.1918601T>G	TOPMed
NSD2	O96028	p.Gln465Arg	rs200573697	missense variant	-	NC_000004.12:g.1918607A>G	TOPMed,gnomAD
NSD2	O96028	p.His467Tyr	rs1365973299	missense variant	-	NC_000004.12:g.1918612C>T	gnomAD
NSD2	O96028	p.Asp469Asn	rs772894930	missense variant	-	NC_000004.12:g.1918618G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp469Glu	rs762549754	missense variant	-	NC_000004.12:g.1918620T>A	ExAC,gnomAD
NSD2	O96028	p.Glu470Lys	rs1393187232	missense variant	-	NC_000004.12:g.1918621G>A	TOPMed
NSD2	O96028	p.Val471Leu	rs762295992	missense variant	-	NC_000004.12:g.1930626G>T	ExAC,gnomAD
NSD2	O96028	p.Pro476Ala	rs372548092	missense variant	-	NC_000004.12:g.1930641C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro476Ser	rs372548092	missense variant	-	NC_000004.12:g.1930641C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu482Gly	rs750699195	missense variant	-	NC_000004.12:g.1930660A>G	ExAC,gnomAD
NSD2	O96028	p.Ile483Thr	rs758798682	missense variant	-	NC_000004.12:g.1930663T>C	ExAC,gnomAD
NSD2	O96028	p.Ile483Met	rs780387498	missense variant	-	NC_000004.12:g.1930664T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu485Ter	rs1465546689	stop gained	-	NC_000004.12:g.1930668G>T	gnomAD
NSD2	O96028	p.Glu485Asp	rs536667286	missense variant	-	NC_000004.12:g.1930670G>C	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Glu485Val	rs1303202014	missense variant	-	NC_000004.12:g.1930669A>T	gnomAD
NSD2	O96028	p.Ser495Asn	rs1424170850	missense variant	-	NC_000004.12:g.1930699G>A	TOPMed
NSD2	O96028	p.Ala500Thr	rs781458614	missense variant	-	NC_000004.12:g.1930713G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val509Leu	rs748110450	missense variant	-	NC_000004.12:g.1930740G>C	ExAC,gnomAD
NSD2	O96028	p.Ala510Val	rs769675903	missense variant	-	NC_000004.12:g.1930744C>T	ExAC,gnomAD
NSD2	O96028	p.Ala510Pro	rs1256922030	missense variant	-	NC_000004.12:g.1930743G>C	gnomAD
NSD2	O96028	p.Val512Leu	rs777777950	missense variant	-	NC_000004.12:g.1930749G>C	ExAC,gnomAD
NSD2	O96028	p.Ala514Thr	rs1262675030	missense variant	-	NC_000004.12:g.1930755G>A	gnomAD
NSD2	O96028	p.Ala514Gly	rs1028583535	missense variant	-	NC_000004.12:g.1930756C>G	TOPMed,gnomAD
NSD2	O96028	p.Glu515Lys	rs1188354432	missense variant	-	NC_000004.12:g.1930758G>A	gnomAD
NSD2	O96028	p.Glu516Asp	rs748968237	missense variant	-	NC_000004.12:g.1930763A>C	ExAC,gnomAD
NSD2	O96028	p.Gly519Ala	rs768231623	missense variant	-	NC_000004.12:g.1935144G>C	ExAC
NSD2	O96028	p.Val521Gly	rs763599385	missense variant	-	NC_000004.12:g.1935150T>G	ExAC,gnomAD
NSD2	O96028	p.Val521Leu	rs184269531	missense variant	-	NC_000004.12:g.1935149G>C	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val521Ile	rs184269531	missense variant	-	NC_000004.12:g.1935149G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Asn522Ser	rs766849084	missense variant	-	NC_000004.12:g.1935153A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly523Glu	rs1373823679	missense variant	-	NC_000004.12:g.1935156G>A	gnomAD
NSD2	O96028	p.Lys524Ter	RCV000736075	frameshift	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1935157dup	ClinVar
NSD2	O96028	p.Lys524Arg	rs1404880935	missense variant	-	NC_000004.12:g.1935159A>G	TOPMed
NSD2	O96028	p.Lys525Glu	rs376083183	missense variant	-	NC_000004.12:g.1935161A>G	ESP,ExAC,gnomAD
NSD2	O96028	p.Arg526Gly	rs767569743	missense variant	-	NC_000004.12:g.1935164A>G	ExAC,gnomAD
NSD2	O96028	p.Arg526Lys	rs1158851983	missense variant	-	NC_000004.12:g.1935165G>A	TOPMed
NSD2	O96028	p.His528Gln	RCV000269277	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935172C>A	ClinVar
NSD2	O96028	p.His528Asn	RCV000366205	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935170C>A	ClinVar
NSD2	O96028	p.His528Asn	rs139753036	missense variant	-	NC_000004.12:g.1935170C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.His528Gln	rs149810908	missense variant	-	NC_000004.12:g.1935172C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr529Ile	rs1439655332	missense variant	-	NC_000004.12:g.1935174C>T	TOPMed
NSD2	O96028	p.Thr529Pro	rs145704598	missense variant	-	NC_000004.12:g.1935173A>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg531Thr	rs140468997	missense variant	-	NC_000004.12:g.1935180G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile532Ter	RCV000657550	frameshift	-	NC_000004.12:g.1935176_1935177dup	ClinVar
NSD2	O96028	p.Thr536Ile	rs758217696	missense variant	-	NC_000004.12:g.1935195C>T	ExAC,gnomAD
NSD2	O96028	p.Asp538Val	rs201639781	missense variant	-	NC_000004.12:g.1935201A>T	1000Genomes,TOPMed
NSD2	O96028	p.Ala539Thr	rs746720577	missense variant	-	NC_000004.12:g.1935203G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu540Lys	rs768024031	missense variant	-	NC_000004.12:g.1935206G>A	ExAC
NSD2	O96028	p.Ala541Val	rs1405664178	missense variant	-	NC_000004.12:g.1935210C>T	gnomAD
NSD2	O96028	p.Thr544Ala	rs776275446	missense variant	-	NC_000004.12:g.1935218A>G	ExAC,gnomAD
NSD2	O96028	p.Pro545Ser	rs749802617	missense variant	-	NC_000004.12:g.1935221C>T	ExAC,gnomAD
NSD2	O96028	p.Pro545Leu	rs771509829	missense variant	-	NC_000004.12:g.1935222C>T	ExAC,gnomAD
NSD2	O96028	p.Arg546Lys	rs775004764	missense variant	-	NC_000004.12:g.1935225G>A	ExAC,gnomAD
NSD2	O96028	p.Thr551Met	rs146509878	missense variant	-	NC_000004.12:g.1935240C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys553Arg	rs761024107	missense variant	-	NC_000004.12:g.1935246A>G	ExAC,gnomAD
NSD2	O96028	p.His554Gln	rs1273557385	missense variant	-	NC_000004.12:g.1935250C>G	TOPMed,gnomAD
NSD2	O96028	p.Ser555Gly	rs1439497500	missense variant	-	NC_000004.12:g.1935251A>G	gnomAD
NSD2	O96028	p.Leu556Val	rs950240383	missense variant	-	NC_000004.12:g.1935254C>G	TOPMed,gnomAD
NSD2	O96028	p.Arg557Trp	rs1207755212	missense variant	-	NC_000004.12:g.1935257C>T	TOPMed,gnomAD
NSD2	O96028	p.Asp560Glu	rs1434444449	missense variant	-	NC_000004.12:g.1938456C>G	gnomAD
NSD2	O96028	p.Ile562Ser	rs1370534690	missense variant	-	NC_000004.12:g.1938461T>G	TOPMed
NSD2	O96028	p.Ile562Val	rs1274132193	missense variant	-	NC_000004.12:g.1938460A>G	gnomAD
NSD2	O96028	p.Asp564Glu	rs1323423253	missense variant	-	NC_000004.12:g.1938468C>G	TOPMed,gnomAD
NSD2	O96028	p.Thr569Arg	rs967022469	missense variant	-	NC_000004.12:g.1938482C>G	TOPMed
NSD2	O96028	p.Ser570Ile	rs1244974581	missense variant	-	NC_000004.12:g.1938485G>T	gnomAD
NSD2	O96028	p.Ser571Cys	rs763018932	missense variant	-	NC_000004.12:g.1938488C>G	ExAC,gnomAD
NSD2	O96028	p.Ser571Phe	rs763018932	missense variant	-	NC_000004.12:g.1938488C>T	ExAC,gnomAD
NSD2	O96028	p.Tyr572Ser	rs1352496907	missense variant	-	NC_000004.12:g.1938491A>C	gnomAD
NSD2	O96028	p.Lys573Glu	rs538038976	missense variant	-	NC_000004.12:g.1938493A>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys573Thr	rs751314482	missense variant	-	NC_000004.12:g.1938494A>C	ExAC,gnomAD
NSD2	O96028	p.Ala574Thr	rs780953841	missense variant	-	NC_000004.12:g.1938496G>A	ExAC,gnomAD
NSD2	O96028	p.Ala577Thr	rs1195882701	missense variant	-	NC_000004.12:g.1938505G>A	gnomAD
NSD2	O96028	p.Ala578Gly	rs140182983	missense variant	-	NC_000004.12:g.1938509C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala578Val	rs140182983	missense variant	-	NC_000004.12:g.1938509C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser580Leu	rs746362705	missense variant	-	NC_000004.12:g.1938515C>T	ExAC,gnomAD
NSD2	O96028	p.Ala585Thr	rs1371619664	missense variant	-	NC_000004.12:g.1938529G>A	gnomAD
NSD2	O96028	p.Ala586Val	rs1390587603	missense variant	-	NC_000004.12:g.1939654C>T	TOPMed
NSD2	O96028	p.Thr587Met	rs763851539	missense variant	-	NC_000004.12:g.1939657C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr587Arg	rs763851539	missense variant	-	NC_000004.12:g.1939657C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu590Arg	rs539819179	missense variant	-	NC_000004.12:g.1939666T>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Leu590Met	rs570695212	missense variant	-	NC_000004.12:g.1939665C>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Lys599Thr	rs1171689736	missense variant	-	NC_000004.12:g.1939693A>C	gnomAD
NSD2	O96028	p.Arg600Gln	rs1189008609	missense variant	-	NC_000004.12:g.1939696G>A	TOPMed
NSD2	O96028	p.Arg602Gln	rs1418871757	missense variant	-	NC_000004.12:g.1939702G>A	gnomAD
NSD2	O96028	p.Ala603Gly	rs748360474	missense variant	-	NC_000004.12:g.1939705C>G	ExAC,gnomAD
NSD2	O96028	p.Thr605Ala	rs769950208	missense variant	-	NC_000004.12:g.1939710A>G	ExAC,gnomAD
NSD2	O96028	p.Thr605Met	rs1213997018	missense variant	-	NC_000004.12:g.1939711C>T	-
NSD2	O96028	p.Ala606Glu	rs1030558419	missense variant	-	NC_000004.12:g.1939714C>A	TOPMed,gnomAD
NSD2	O96028	p.Ala606Thr	rs1299648042	missense variant	-	NC_000004.12:g.1939713G>A	gnomAD
NSD2	O96028	p.Ala606Val	rs1030558419	missense variant	-	NC_000004.12:g.1939714C>T	TOPMed,gnomAD
NSD2	O96028	p.Ala607Val	rs1413976698	missense variant	-	NC_000004.12:g.1939717C>T	gnomAD
NSD2	O96028	p.Ser614Asn	rs767653275	missense variant	-	NC_000004.12:g.1939738G>A	gnomAD
NSD2	O96028	p.Lys615Asn	rs770938820	missense variant	-	NC_000004.12:g.1939742A>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser618Cys	rs774325375	missense variant	-	NC_000004.12:g.1939750C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser620Ala	rs759432670	missense variant	-	NC_000004.12:g.1939755T>G	ExAC,gnomAD
NSD2	O96028	p.Thr624Pro	rs1253622631	missense variant	-	NC_000004.12:g.1939767A>C	gnomAD
NSD2	O96028	p.Ser629Leu	rs144714547	missense variant	-	NC_000004.12:g.1951076C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser629Pro	rs764506321	missense variant	-	NC_000004.12:g.1951075T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp630Glu	rs778951564	missense variant	-	NC_000004.12:g.1951080C>G	ExAC
NSD2	O96028	p.Pro632Leu	rs750722330	missense variant	-	NC_000004.12:g.1951085C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp634Asn	rs780346425	missense variant	-	NC_000004.12:g.1951090G>A	ExAC,gnomAD
NSD2	O96028	p.Pro636Arg	rs150312094	missense variant	-	NC_000004.12:g.1951097C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Pro	rs781198289	missense variant	-	NC_000004.12:g.1951099T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Leu	rs201252361	missense variant	-	NC_000004.12:g.1951100C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser637Ala	rs781198289	missense variant	-	NC_000004.12:g.1951099T>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser639Cys	rs1482224235	missense variant	-	NC_000004.12:g.1951106C>G	TOPMed
NSD2	O96028	p.Pro640Leu	rs748981823	missense variant	-	NC_000004.12:g.1951109C>T	ExAC,gnomAD
NSD2	O96028	p.Tyr641His	rs770425230	missense variant	-	NC_000004.12:g.1951111T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu642Val	rs759061394	missense variant	-	NC_000004.12:g.1951115A>T	ExAC,gnomAD
NSD2	O96028	p.Glu642Gly	rs759061394	missense variant	-	NC_000004.12:g.1951115A>G	ExAC,gnomAD
NSD2	O96028	p.Val651Leu	rs1383119383	missense variant	-	NC_000004.12:g.1951141G>C	TOPMed
NSD2	O96028	p.Val651Ala	rs1328580847	missense variant	-	NC_000004.12:g.1951142T>C	gnomAD
NSD2	O96028	p.Glu659Gly	rs1398214715	missense variant	-	NC_000004.12:g.1951166A>G	TOPMed
NSD2	O96028	p.Arg660Gln	rs1355063646	missense variant	-	NC_000004.12:g.1951169G>A	gnomAD
NSD2	O96028	p.Gly661Val	rs758747210	missense variant	-	NC_000004.12:g.1951172G>T	ExAC,gnomAD
NSD2	O96028	p.Val662Ala	rs1400681386	missense variant	-	NC_000004.12:g.1951175T>C	TOPMed
NSD2	O96028	p.Ala664Val	rs766717444	missense variant	-	NC_000004.12:g.1951181C>T	ExAC,gnomAD
NSD2	O96028	p.Lys665Arg	rs143388708	missense variant	-	NC_000004.12:g.1951184A>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr668Cys	rs1308986047	missense variant	-	NC_000004.12:g.1951193A>G	TOPMed,gnomAD
NSD2	O96028	p.Val669Met	rs1362563185	missense variant	-	NC_000004.12:g.1951195G>A	TOPMed
NSD2	O96028	p.Leu672Val	rs1448727938	missense variant	-	NC_000004.12:g.1952108C>G	TOPMed
NSD2	O96028	p.Pro676Ser	rs943227424	missense variant	-	NC_000004.12:g.1952120C>T	-
NSD2	O96028	p.Pro676Leu	rs773890550	missense variant	-	NC_000004.12:g.1952121C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser678Asn	rs1277336806	missense variant	-	NC_000004.12:g.1952127G>A	gnomAD
NSD2	O96028	p.Leu679Phe	rs1349584955	missense variant	-	NC_000004.12:g.1952129C>T	gnomAD
NSD2	O96028	p.Leu680Pro	rs774410104	missense variant	-	NC_000004.12:g.1952133T>C	ExAC,gnomAD
NSD2	O96028	p.Ala693Thr	rs760749890	missense variant	-	NC_000004.12:g.1952171G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg699Trp	rs763969166	missense variant	-	NC_000004.12:g.1952189C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly703Arg	rs757015702	missense variant	-	NC_000004.12:g.1952201G>A	ExAC,gnomAD
NSD2	O96028	p.Gly703Val	rs1390978369	missense variant	-	NC_000004.12:g.1952202G>T	gnomAD
NSD2	O96028	p.Glu709Lys	rs369991547	missense variant	-	NC_000004.12:g.1952219G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ile714Asn	rs1302175161	missense variant	-	NC_000004.12:g.1953327T>A	gnomAD
NSD2	O96028	p.Ser716Pro	rs748174351	missense variant	-	NC_000004.12:g.1953332T>C	ExAC,gnomAD
NSD2	O96028	p.Val719Leu	rs200415868	missense variant	-	NC_000004.12:g.1953341G>C	1000Genomes
NSD2	O96028	p.Ser723Arg	rs762870190	missense variant	-	NC_000004.12:g.1953355C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr725Ile	rs1201830073	missense variant	-	NC_000004.12:g.1953360C>T	TOPMed
NSD2	O96028	p.Thr725Ala	rs1251092560	missense variant	-	NC_000004.12:g.1953359A>G	TOPMed,gnomAD
NSD2	O96028	p.Val727Leu	rs766187206	missense variant	-	NC_000004.12:g.1953365G>C	ExAC,gnomAD
NSD2	O96028	p.Arg729Gly	rs1194038054	missense variant	-	NC_000004.12:g.1953371C>G	gnomAD
NSD2	O96028	p.Val731Ala	rs927209802	missense variant	-	NC_000004.12:g.1953378T>C	TOPMed
NSD2	O96028	p.Val731Met	rs370713472	missense variant	-	NC_000004.12:g.1953377G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Thr733Pro	rs1280676418	missense variant	-	NC_000004.12:g.1953383A>C	TOPMed
NSD2	O96028	p.Gln734Lys	rs1235457134	missense variant	-	NC_000004.12:g.1953386C>A	TOPMed
NSD2	O96028	p.Glu741Val	rs1157710629	missense variant	-	NC_000004.12:g.1953408A>T	gnomAD
NSD2	O96028	p.Ala742Gly	rs1458389813	missense variant	-	NC_000004.12:g.1953411C>G	gnomAD
NSD2	O96028	p.Ala742Ser	rs767239709	missense variant	-	NC_000004.12:g.1953410G>T	ExAC,gnomAD
NSD2	O96028	p.Lys746Ile	rs755618120	missense variant	-	NC_000004.12:g.1953423A>T	ExAC,gnomAD
NSD2	O96028	p.Tyr747Phe	rs1440615250	missense variant	-	NC_000004.12:g.1953426A>T	gnomAD
NSD2	O96028	p.Phe752Ser	rs750927886	missense variant	-	NC_000004.12:g.1953441T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Phe752Leu	rs763576743	missense variant	-	NC_000004.12:g.1953440T>C	ExAC,gnomAD
NSD2	O96028	p.Ser754Arg	rs1306585669	missense variant	-	NC_000004.12:g.1953448C>G	gnomAD
NSD2	O96028	p.Arg758Ser	rs1329886619	missense variant	-	NC_000004.12:g.1953458C>A	gnomAD
NSD2	O96028	p.Pro760Ala	rs952088696	missense variant	-	NC_000004.12:g.1953464C>G	TOPMed
NSD2	O96028	p.Ser766Asn	rs1222020519	missense variant	-	NC_000004.12:g.1953483G>A	gnomAD
NSD2	O96028	p.Ser766Thr	rs1222020519	missense variant	-	NC_000004.12:g.1953483G>C	gnomAD
NSD2	O96028	p.Ala769Thr	rs991357362	missense variant	-	NC_000004.12:g.1953491G>A	TOPMed
NSD2	O96028	p.Pro772Ser	rs781367586	missense variant	-	NC_000004.12:g.1953500C>T	ExAC,gnomAD
NSD2	O96028	p.Asn774Tyr	rs748411778	missense variant	-	NC_000004.12:g.1953506A>T	ExAC,gnomAD
NSD2	O96028	p.Pro775Thr	rs540859268	missense variant	-	NC_000004.12:g.1953509C>A	gnomAD
NSD2	O96028	p.Pro775Ser	rs540859268	missense variant	-	NC_000004.12:g.1953509C>T	gnomAD
NSD2	O96028	p.Pro777Ala	rs562252470	missense variant	-	NC_000004.12:g.1953515C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro777Ser	rs562252470	missense variant	-	NC_000004.12:g.1953515C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro777Leu	rs1192456885	missense variant	-	NC_000004.12:g.1953516C>T	TOPMed
NSD2	O96028	p.Ser778Leu	rs374024971	missense variant	-	NC_000004.12:g.1953519C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg784Gln	rs1239708011	missense variant	-	NC_000004.12:g.1955173G>A	gnomAD
NSD2	O96028	p.Val786Ile	rs548145434	missense variant	-	NC_000004.12:g.1955178G>A	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val790Ile	rs761204359	missense variant	-	NC_000004.12:g.1955190G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Tyr792Phe	rs752059206	missense variant	-	NC_000004.12:g.1955197A>T	ExAC,gnomAD
NSD2	O96028	p.Ser794Gly	rs760095870	missense variant	-	NC_000004.12:g.1955202A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly795Arg	rs1190376594	missense variant	-	NC_000004.12:g.1955205G>A	TOPMed
NSD2	O96028	p.Val805Ala	RCV000261891	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1955236T>C	ClinVar
NSD2	O96028	p.Val805Ala	rs144335923	missense variant	-	NC_000004.12:g.1955236T>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala807Thr	rs143360610	missense variant	-	NC_000004.12:g.1955241G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser808Cys	rs757383616	missense variant	-	NC_000004.12:g.1955245C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asn809Ser	rs1220682081	missense variant	-	NC_000004.12:g.1955248A>G	TOPMed
NSD2	O96028	p.Ile812Val	rs1445749183	missense variant	-	NC_000004.12:g.1955256A>G	gnomAD
NSD2	O96028	p.Thr818Ala	rs779189829	missense variant	-	NC_000004.12:g.1955274A>G	ExAC,gnomAD
NSD2	O96028	p.Arg820Gln	rs758343111	missense variant	-	NC_000004.12:g.1955281G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg820Trp	rs745957331	missense variant	-	NC_000004.12:g.1955280C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys821Gln	rs980280785	missense variant	-	NC_000004.12:g.1955283A>C	TOPMed
NSD2	O96028	p.Lys823Arg	rs1435819330	missense variant	-	NC_000004.12:g.1955290A>G	gnomAD
NSD2	O96028	p.His825Gln	rs748922675	missense variant	-	NC_000004.12:g.1955297C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His826Leu	rs1478502518	missense variant	-	NC_000004.12:g.1955299A>T	gnomAD
NSD2	O96028	p.Ala827Thr	rs776114283	missense variant	-	NC_000004.12:g.1955301G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala827Val	rs747861024	missense variant	-	NC_000004.12:g.1955302C>T	ExAC,gnomAD
NSD2	O96028	p.Val829Ile	rs146318719	missense variant	-	NC_000004.12:g.1955307G>A	ESP,ExAC,gnomAD
NSD2	O96028	p.Ser832Asn	rs1170253779	missense variant	-	NC_000004.12:g.1955317G>A	TOPMed
NSD2	O96028	p.Val836Met	rs139637100	missense variant	-	NC_000004.12:g.1955328G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val836Leu	rs139637100	missense variant	-	NC_000004.12:g.1955328G>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys839Glu	rs757494380	missense variant	-	NC_000004.12:g.1955337A>G	ExAC,gnomAD
NSD2	O96028	p.Ile860Phe	rs1337213459	missense variant	-	NC_000004.12:g.1955752A>T	TOPMed,gnomAD
NSD2	O96028	p.Glu861Lys	rs1422388271	missense variant	-	NC_000004.12:g.1955755G>A	TOPMed
NSD2	O96028	p.Glu861Gly	rs1309496969	missense variant	-	NC_000004.12:g.1955756A>G	gnomAD
NSD2	O96028	p.Met862Thr	rs1352976948	missense variant	-	NC_000004.12:g.1955759T>C	TOPMed,gnomAD
NSD2	O96028	p.Asp864Asn	rs748981703	missense variant	-	NC_000004.12:g.1955764G>A	ExAC,gnomAD
NSD2	O96028	p.Gly865Ser	rs1281027436	missense variant	-	NC_000004.12:g.1955767G>A	gnomAD
NSD2	O96028	p.Ser866Ile	rs377249050	missense variant	-	NC_000004.12:g.1955771G>T	ESP,ExAC,gnomAD
NSD2	O96028	p.Cys869Arg	rs1553876452	missense variant	-	NC_000004.12:g.1955779T>C	-
NSD2	O96028	p.Cys869Arg	RCV000622646	missense variant	Inborn genetic diseases	NC_000004.12:g.1955779T>C	ClinVar
NSD2	O96028	p.Asn870Ser	rs1268825335	missense variant	-	NC_000004.12:g.1955783A>G	gnomAD
NSD2	O96028	p.Arg873Lys	rs1341691783	missense variant	-	NC_000004.12:g.1955792G>A	gnomAD
NSD2	O96028	p.His879Arg	rs1485302063	missense variant	-	NC_000004.12:g.1955810A>G	gnomAD
NSD2	O96028	p.Phe880Tyr	rs777295950	missense variant	-	NC_000004.12:g.1955813T>A	ExAC,gnomAD
NSD2	O96028	p.Phe880Leu	rs1484701021	missense variant	-	NC_000004.12:g.1955814C>G	gnomAD
NSD2	O96028	p.Ile883Thr	rs762245596	missense variant	-	NC_000004.12:g.1955822T>C	ExAC,gnomAD
NSD2	O96028	p.Ile884Val	rs369572952	missense variant	-	NC_000004.12:g.1955824A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro906Leu	rs145631870	missense variant	-	NC_000004.12:g.1956024C>T	ESP,ExAC,TOPMed
NSD2	O96028	p.Ile915Val	rs1432275472	missense variant	-	NC_000004.12:g.1956050A>G	gnomAD
NSD2	O96028	p.Lys926Gln	rs1257240726	missense variant	-	NC_000004.12:g.1956083A>C	TOPMed
NSD2	O96028	p.Thr931Met	rs767627490	missense variant	-	NC_000004.12:g.1956099C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.His932Tyr	rs760665991	missense variant	-	NC_000004.12:g.1956101C>T	ExAC,gnomAD
NSD2	O96028	p.Ala934Val	rs1388626156	missense variant	-	NC_000004.12:g.1956108C>T	gnomAD
NSD2	O96028	p.Pro938Leu	rs200311175	missense variant	-	NC_000004.12:g.1956120C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Met940Val	rs1313958361	missense variant	-	NC_000004.12:g.1956125A>G	TOPMed,gnomAD
NSD2	O96028	p.Met940Arg	rs764917391	missense variant	-	NC_000004.12:g.1956126T>G	ExAC,gnomAD
NSD2	O96028	p.Glu941Gly	rs750083545	missense variant	-	NC_000004.12:g.1956129A>G	ExAC
NSD2	O96028	p.Glu941Asp	rs1329849826	missense variant	-	NC_000004.12:g.1956130G>T	TOPMed,gnomAD
NSD2	O96028	p.Asp943Ala	rs757920884	missense variant	-	NC_000004.12:g.1956135A>C	ExAC,gnomAD
NSD2	O96028	p.Asp943Gly	rs757920884	missense variant	-	NC_000004.12:g.1956135A>G	ExAC,gnomAD
NSD2	O96028	p.Arg944Gln	rs756624618	missense variant	-	NC_000004.12:g.1956138G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg944Gln	RCV000371835	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1956138G>A	ClinVar
NSD2	O96028	p.Arg944Gly	rs746529986	missense variant	-	NC_000004.12:g.1956137C>G	ExAC,gnomAD
NSD2	O96028	p.Arg944Leu	rs756624618	missense variant	-	NC_000004.12:g.1956138G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly945Ala	rs771249310	missense variant	-	NC_000004.12:g.1956141G>C	ExAC
NSD2	O96028	p.Gly945Arg	rs749617066	missense variant	-	NC_000004.12:g.1956140G>C	ExAC,gnomAD
NSD2	O96028	p.Arg947His	rs1157864395	missense variant	-	NC_000004.12:g.1956147G>A	gnomAD
NSD2	O96028	p.Arg947Cys	rs943974282	missense variant	-	NC_000004.12:g.1956146C>T	gnomAD
NSD2	O96028	p.Gly950Ala	rs1411838742	missense variant	-	NC_000004.12:g.1956156G>C	gnomAD
NSD2	O96028	p.Gly950Arg	rs1428724943	missense variant	-	NC_000004.12:g.1956155G>C	TOPMed
NSD2	O96028	p.Gly955Arg	rs934745655	missense variant	-	NC_000004.12:g.1956170G>A	gnomAD
NSD2	O96028	p.Lys959Arg	rs772127940	missense variant	-	NC_000004.12:g.1956183A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gln963His	rs137974842	missense variant	-	NC_000004.12:g.1957940A>T	ESP,TOPMed,gnomAD
NSD2	O96028	p.Ala965Thr	rs779205776	missense variant	-	NC_000004.12:g.1957944G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala967Thr	rs746260679	missense variant	-	NC_000004.12:g.1957950G>A	ExAC,gnomAD
NSD2	O96028	p.Arg968His	RCV000623054	missense variant	Inborn genetic diseases	NC_000004.12:g.1957954G>A	ClinVar
NSD2	O96028	p.Arg968His	rs1553876858	missense variant	-	NC_000004.12:g.1957954G>A	-
NSD2	O96028	p.Arg970His	rs780274468	missense variant	-	NC_000004.12:g.1957960G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg970Cys	rs772239992	missense variant	-	NC_000004.12:g.1957959C>T	ExAC,gnomAD
NSD2	O96028	p.Arg979Ter	rs548600548	stop gained	-	NC_000004.12:g.1957986C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Gln982Glu	rs1472780335	missense variant	-	NC_000004.12:g.1957995C>G	gnomAD
NSD2	O96028	p.Glu985Lys	rs1416347752	missense variant	-	NC_000004.12:g.1958004G>A	gnomAD
NSD2	O96028	p.Pro989Leu	rs1286095958	missense variant	-	NC_000004.12:g.1958017C>T	TOPMed
NSD2	O96028	p.Lys998Glu	rs1309075149	missense variant	-	NC_000004.12:g.1959477A>G	gnomAD
NSD2	O96028	p.Tyr1000His	rs1291181242	missense variant	-	NC_000004.12:g.1959483T>C	TOPMed
NSD2	O96028	p.Gln1004Glu	rs1344700826	missense variant	-	NC_000004.12:g.1959495C>G	TOPMed
NSD2	O96028	p.Ile1005Leu	rs1018801461	missense variant	-	NC_000004.12:g.1959498A>C	TOPMed
NSD2	O96028	p.Tyr1006His	rs142100377	missense variant	-	NC_000004.12:g.1959501T>C	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1008Gly	rs758754683	missense variant	-	NC_000004.12:g.1959508C>G	ExAC,gnomAD
NSD2	O96028	p.Ala1008Val	rs758754683	missense variant	-	NC_000004.12:g.1959508C>T	ExAC,gnomAD
NSD2	O96028	p.Pro1014Ala	rs972287878	missense variant	-	NC_000004.12:g.1959525C>G	TOPMed
NSD2	O96028	p.Thr1021Ala	rs1272076193	missense variant	-	NC_000004.12:g.1959546A>G	TOPMed,gnomAD
NSD2	O96028	p.Ser1030Ala	rs1409623677	missense variant	-	NC_000004.12:g.1959573T>G	gnomAD
NSD2	O96028	p.Pro1043Ala	rs1322396712	missense variant	-	NC_000004.12:g.1959612C>G	gnomAD
NSD2	O96028	p.Ala1048Val	rs745664737	missense variant	-	NC_000004.12:g.1959628C>T	ExAC,gnomAD
NSD2	O96028	p.Ala1048Thr	rs774234132	missense variant	-	NC_000004.12:g.1959627G>A	ExAC,gnomAD
NSD2	O96028	p.Glu1050Lys	rs1047838051	missense variant	-	NC_000004.12:g.1959633G>A	TOPMed,gnomAD
NSD2	O96028	p.Phe1051Tyr	rs1213391191	missense variant	-	NC_000004.12:g.1959637T>A	TOPMed
NSD2	O96028	p.Gln1061Arg	rs763723156	missense variant	-	NC_000004.12:g.1959667A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1066Arg	rs773691968	missense variant	-	NC_000004.12:g.1959682A>G	ExAC,gnomAD
NSD2	O96028	p.Ile1068Thr	rs1420145115	missense variant	-	NC_000004.12:g.1959688T>C	TOPMed,gnomAD
NSD2	O96028	p.Ala1079Thr	rs771867435	missense variant	-	NC_000004.12:g.1959720G>A	ExAC,gnomAD
NSD2	O96028	p.Ala1079Gly	rs1374595557	missense variant	-	NC_000004.12:g.1959721C>G	TOPMed
NSD2	O96028	p.Lys1080Arg	rs1162500705	missense variant	-	NC_000004.12:g.1959724A>G	gnomAD
NSD2	O96028	p.Arg1081Ser	rs756144891	missense variant	-	NC_000004.12:g.1959728G>T	ExAC,gnomAD
NSD2	O96028	p.Arg1084Thr	rs924346177	missense variant	-	NC_000004.12:g.1959736G>C	TOPMed
NSD2	O96028	p.Lys1085Asn	rs778057489	missense variant	-	NC_000004.12:g.1959740G>T	ExAC,gnomAD
NSD2	O96028	p.Glu1087Val	rs1256794829	missense variant	-	NC_000004.12:g.1961039A>T	gnomAD
NSD2	O96028	p.Val1093Ile	rs1440755101	missense variant	-	NC_000004.12:g.1961056G>A	TOPMed
NSD2	O96028	p.Asp1098Asn	rs1255636324	missense variant	-	NC_000004.12:g.1961071G>A	TOPMed
NSD2	O96028	p.Glu1099Lys	rs772470710	missense variant	-	NC_000004.12:g.1961074G>A	ExAC,gnomAD
NSD2	O96028	p.His1110Gln	rs754150618	missense variant	-	NC_000004.12:g.1961109C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp1113Asn	rs750479519	missense variant	-	NC_000004.12:g.1961116G>A	ExAC,gnomAD
NSD2	O96028	p.His1116Tyr	rs1295039148	missense variant	-	NC_000004.12:g.1961125C>T	TOPMed
NSD2	O96028	p.Ile1122Val	rs751318500	missense variant	-	NC_000004.12:g.1961143A>G	ExAC,gnomAD
NSD2	O96028	p.Pro1132Arg	rs778377665	missense variant	-	NC_000004.12:g.1974885C>G	ExAC,gnomAD
NSD2	O96028	p.Leu1151Phe	rs1251315025	missense variant	-	NC_000004.12:g.1974941C>T	TOPMed
NSD2	O96028	p.Arg1160Cys	rs1380951165	missense variant	-	NC_000004.12:g.1974968C>T	gnomAD
NSD2	O96028	p.Val1166Ile	rs375277590	missense variant	-	NC_000004.12:g.1974986G>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Asp1168His	rs1460279946	missense variant	-	NC_000004.12:g.1974992G>C	TOPMed
NSD2	O96028	p.Ala1171Glu	rs769777776	missense variant	-	NC_000004.12:g.1975002C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1172Glu	rs770661384	missense variant	-	NC_000004.12:g.1975294G>A	ExAC,gnomAD
NSD2	O96028	p.Thr1173Ser	rs1285311675	missense variant	-	NC_000004.12:g.1975296A>T	TOPMed
NSD2	O96028	p.Thr1173Met	rs201530243	missense variant	-	NC_000004.12:g.1975297C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr1173Arg	rs201530243	missense variant	-	NC_000004.12:g.1975297C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1187Asp	rs1384015236	missense variant	-	NC_000004.12:g.1975340A>C	TOPMed,gnomAD
NSD2	O96028	p.Thr1189Met	rs758809828	missense variant	-	NC_000004.12:g.1975345C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1192Trp	rs751874982	missense variant	-	NC_000004.12:g.1975353C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1208Ile	rs1264602948	missense variant	-	NC_000004.12:g.1976476C>T	gnomAD
NSD2	O96028	p.Ser1209Leu	rs777823476	missense variant	-	NC_000004.12:g.1976479C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1210Met	rs756992765	missense variant	-	NC_000004.12:g.1976482C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1211Asn	rs878870013	missense variant	-	NC_000004.12:g.1976485C>A	gnomAD
NSD2	O96028	p.Thr1211Ser	rs778715134	missense variant	-	NC_000004.12:g.1976484A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu1212Val	rs945268423	missense variant	-	NC_000004.12:g.1976487C>G	TOPMed
NSD2	O96028	p.Glu1215Asp	rs1416610820	missense variant	-	NC_000004.12:g.1976498G>C	TOPMed
NSD2	O96028	p.Glu1216Gly	rs1290861908	missense variant	-	NC_000004.12:g.1976500A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1216Lys	rs1423726760	missense variant	-	NC_000004.12:g.1976499G>A	TOPMed
NSD2	O96028	p.Glu1216Val	rs1290861908	missense variant	-	NC_000004.12:g.1976500A>T	TOPMed,gnomAD
NSD2	O96028	p.Lys1220Met	rs746488285	missense variant	-	NC_000004.12:g.1976512A>T	ExAC,gnomAD
NSD2	O96028	p.Thr1221Ile	rs144327097	missense variant	-	NC_000004.12:g.1976515C>T	ESP,ExAC,gnomAD
NSD2	O96028	p.Thr1225Met	rs754405808	missense variant	-	NC_000004.12:g.1976527C>T	TOPMed
NSD2	O96028	p.Gly1232Arg	rs1256308174	missense variant	-	NC_000004.12:g.1976547G>A	TOPMed
NSD2	O96028	p.Glu1233Lys	rs1305960757	missense variant	-	NC_000004.12:g.1976550G>A	gnomAD
NSD2	O96028	p.Gly1234Glu	rs773694055	missense variant	-	NC_000004.12:g.1976554G>A	ExAC,gnomAD
NSD2	O96028	p.Gly1234Arg	rs1317326083	missense variant	-	NC_000004.12:g.1976553G>A	gnomAD
NSD2	O96028	p.Gln1237Arg	rs763391838	missense variant	-	NC_000004.12:g.1976563A>G	ExAC,gnomAD
NSD2	O96028	p.Glu1241Lys	rs774737951	missense variant	-	NC_000004.12:g.1976574G>A	ExAC,gnomAD
NSD2	O96028	p.Glu1241Gln	rs774737951	missense variant	-	NC_000004.12:g.1976574G>C	ExAC,gnomAD
NSD2	O96028	p.Arg1244His	rs1420066426	missense variant	-	NC_000004.12:g.1976584G>A	gnomAD
NSD2	O96028	p.Arg1244Cys	rs376629334	missense variant	-	NC_000004.12:g.1976583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1246Ser	rs1424067803	missense variant	-	NC_000004.12:g.1976589G>A	gnomAD
NSD2	O96028	p.Gly1249Arg	rs1367549846	missense variant	-	NC_000004.12:g.1976598G>A	gnomAD
NSD2	O96028	p.Gly1249Glu	rs1439876719	missense variant	-	NC_000004.12:g.1976599G>A	gnomAD
NSD2	O96028	p.Arg1256His	rs901340615	missense variant	-	NC_000004.12:g.1976620G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1262Val	rs1467938486	missense variant	-	NC_000004.12:g.1976638C>T	TOPMed
NSD2	O96028	p.Ser1266Cys	rs779674908	missense variant	-	NC_000004.12:g.1976650C>G	ExAC,gnomAD
NSD2	O96028	p.Arg1273Gln	rs1166649020	missense variant	-	NC_000004.12:g.1976671G>A	TOPMed,gnomAD
NSD2	O96028	p.Pro1274Leu	rs1251301694	missense variant	-	NC_000004.12:g.1976674C>T	TOPMed,gnomAD
NSD2	O96028	p.Phe1275Ile	rs1457835886	missense variant	-	NC_000004.12:g.1976676T>A	TOPMed
NSD2	O96028	p.Glu1279Asp	rs146059943	missense variant	-	NC_000004.12:g.1978648A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1291Leu	rs768972964	missense variant	-	NC_000004.12:g.1978683C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1294Leu	rs761945829	missense variant	-	NC_000004.12:g.1978692C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Leu1298Phe	rs1035199365	missense variant	-	NC_000004.12:g.1978703C>T	gnomAD
NSD2	O96028	p.Leu1298Val	rs1035199365	missense variant	-	NC_000004.12:g.1978703C>G	gnomAD
NSD2	O96028	p.Asn1301Ser	rs751306053	missense variant	-	NC_000004.12:g.1978713A>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Phe1303Leu	rs767126550	missense variant	-	NC_000004.12:g.1978720C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1305Glu	rs1232165839	missense variant	-	NC_000004.12:g.1978724A>G	TOPMed,gnomAD
NSD2	O96028	p.Glu1306Gln	rs1346394191	missense variant	-	NC_000004.12:g.1978727G>C	gnomAD
NSD2	O96028	p.Gln1308His	rs752348506	missense variant	-	NC_000004.12:g.1978735G>C	ExAC,gnomAD
NSD2	O96028	p.Asp1309His	rs755643031	missense variant	-	NC_000004.12:g.1978736G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1310Glu	rs777078587	missense variant	-	NC_000004.12:g.1978740G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Thr1311Ala	rs142278631	missense variant	-	NC_000004.12:g.1978742A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1312Val	rs780733114	missense variant	-	NC_000004.12:g.1978746C>T	ExAC,gnomAD
NSD2	O96028	p.Ala1312Thr	rs515582	missense variant	-	NC_000004.12:g.1978745G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1312Ser	rs515582	missense variant	-	NC_000004.12:g.1978745G>T	TOPMed,gnomAD
NSD2	O96028	p.Phe1313Leu	rs1220405765	missense variant	-	NC_000004.12:g.1978748T>C	gnomAD
NSD2	O96028	p.Ser1314Arg	rs1418175764	missense variant	-	NC_000004.12:g.1978751A>C	TOPMed,gnomAD
NSD2	O96028	p.Ser1314Gly	rs1418175764	missense variant	-	NC_000004.12:g.1978751A>G	TOPMed,gnomAD
NSD2	O96028	p.Thr1316Ser	rs1268072056	missense variant	-	NC_000004.12:g.1978758C>G	gnomAD
NSD2	O96028	p.Pro1317Leu	rs769203933	missense variant	-	NC_000004.12:g.1978761C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1317Arg	rs769203933	missense variant	-	NC_000004.12:g.1978761C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1320Trp	rs151213547	missense variant	-	NC_000004.12:g.1978769C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1320Gln	rs773117985	missense variant	-	NC_000004.12:g.1978770G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1321Pro	rs763053114	missense variant	-	NC_000004.12:g.1978772T>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1321Phe	rs951676878	missense variant	-	NC_000004.12:g.1978773C>T	gnomAD
NSD2	O96028	p.Cys1323Ser	rs759312671	missense variant	-	NC_000004.12:g.1978779G>C	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Cys1323Tyr	rs759312671	missense variant	-	NC_000004.12:g.1978779G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1325Gly	rs985805727	missense variant	-	NC_000004.12:g.1978785A>G	gnomAD
NSD2	O96028	p.His1326Gln	rs752539028	missense variant	-	NC_000004.12:g.1978789T>G	ExAC,gnomAD
NSD2	O96028	p.His1326Tyr	rs1280330106	missense variant	-	NC_000004.12:g.1978787C>T	gnomAD
NSD2	O96028	p.Asp1327His	rs1244088714	missense variant	-	NC_000004.12:g.1978790G>C	gnomAD
NSD2	O96028	p.Asp1327Glu	rs1291087144	missense variant	-	NC_000004.12:g.1978792C>G	TOPMed,gnomAD
NSD2	O96028	p.Gly1329Ala	rs1161045853	missense variant	-	NC_000004.12:g.1978797G>C	TOPMed,gnomAD
NSD2	O96028	p.Gly1329Glu	rs1161045853	missense variant	-	NC_000004.12:g.1978797G>A	TOPMed,gnomAD
NSD2	O96028	p.Ala1330Thr	rs965788333	missense variant	-	NC_000004.12:g.1978799G>A	TOPMed
NSD2	O96028	p.Ala1330Val	rs760185069	missense variant	-	NC_000004.12:g.1978800C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ala1331Val	rs200615147	missense variant	-	NC_000004.12:g.1978803C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Ser1332Leu	rs561070783	missense variant	-	NC_000004.12:g.1978806C>T	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Val1333Ala	rs755548968	missense variant	-	NC_000004.12:g.1978809T>C	ExAC,gnomAD
NSD2	O96028	p.Arg1334Gly	rs1459045548	missense variant	-	NC_000004.12:g.1978811A>G	TOPMed,gnomAD
NSD2	O96028	p.Ser1335Arg	rs934528153	missense variant	-	NC_000004.12:g.1978816C>G	gnomAD
NSD2	O96028	p.Thr1336Pro	rs139213191	missense variant	-	NC_000004.12:g.1978817A>C	ESP,ExAC
NSD2	O96028	p.Thr1336Ile	rs769868346	missense variant	-	NC_000004.12:g.1978818C>T	ExAC,gnomAD
NSD2	O96028	p.Thr1336Ser	rs769868346	missense variant	-	NC_000004.12:g.1978818C>G	ExAC,gnomAD
NSD2	O96028	p.Thr1338Ala	rs998624369	missense variant	-	NC_000004.12:g.1978823A>G	TOPMed,gnomAD
NSD2	O96028	p.Thr1338Ile	rs1033243246	missense variant	-	NC_000004.12:g.1978824C>T	TOPMed
NSD2	O96028	p.Glu1339Lys	rs749348112	missense variant	-	NC_000004.12:g.1978826G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1340Asn	rs199956960	missense variant	-	NC_000004.12:g.1978831G>C	ESP,ExAC,TOPMed
NSD2	O96028	p.Lys1340Asn	rs199956960	missense variant	-	NC_000004.12:g.1978831G>T	ESP,ExAC,TOPMed
NSD2	O96028	p.Pro1341Ala	rs914518920	missense variant	-	NC_000004.12:g.1978832C>G	TOPMed,gnomAD
NSD2	O96028	p.Pro1341Thr	rs914518920	missense variant	-	NC_000004.12:g.1978832C>A	TOPMed,gnomAD
NSD2	O96028	p.Pro1341His	rs774265779	missense variant	-	NC_000004.12:g.1978833C>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1341Arg	rs774265779	missense variant	-	NC_000004.12:g.1978833C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1341Leu	rs774265779	missense variant	-	NC_000004.12:g.1978833C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342His	rs201619712	missense variant	-	NC_000004.12:g.1978836C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Leu	rs201619712	missense variant	-	NC_000004.12:g.1978836C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Thr	rs535066596	missense variant	-	NC_000004.12:g.1978835C>A	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Arg	rs201619712	missense variant	-	NC_000004.12:g.1978836C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1342Ser	rs535066596	missense variant	-	NC_000004.12:g.1978835C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Gln	rs368799821	missense variant	-	NC_000004.12:g.1978839C>A	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Leu	rs368799821	missense variant	-	NC_000004.12:g.1978839C>T	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Ala	rs142054662	missense variant	-	NC_000004.12:g.1978838C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Arg	rs368799821	missense variant	-	NC_000004.12:g.1978839C>G	ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Thr	rs142054662	missense variant	-	NC_000004.12:g.1978838C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1343Ser	rs142054662	missense variant	-	NC_000004.12:g.1978838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Glu1344Lys	rs950025435	missense variant	-	NC_000004.12:g.1978841G>A	TOPMed,gnomAD
NSD2	O96028	p.Glu1344Gly	rs552288309	missense variant	-	NC_000004.12:g.1978842A>G	1000Genomes,ExAC,gnomAD
NSD2	O96028	p.Pro1345Ala	rs745966514	missense variant	-	NC_000004.12:g.1978844C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Pro1345Ser	rs745966514	missense variant	-	NC_000004.12:g.1978844C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1347Asn	rs1172013755	missense variant	-	NC_000004.12:g.1978852G>C	gnomAD
NSD2	O96028	p.Pro1348Leu	rs370127436	missense variant	-	NC_000004.12:g.1978854C>T	ESP,TOPMed
NSD2	O96028	p.Lys1349Met	rs775533504	missense variant	-	NC_000004.12:g.1978857A>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1349Asn	rs746770939	missense variant	-	NC_000004.12:g.1978858G>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1351Thr	rs569412351	missense variant	-	NC_000004.12:g.1978863A>C	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1351Met	rs569412351	missense variant	-	NC_000004.12:g.1978863A>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1353Trp	rs761501519	missense variant	-	NC_000004.12:g.1978868C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1353Gln	rs1379056879	missense variant	-	NC_000004.12:g.1978869G>A	TOPMed
NSD2	O96028	p.Arg1354Gln	rs903302389	missense variant	-	NC_000004.12:g.1978872G>A	TOPMed,gnomAD
NSD2	O96028	p.Arg1355Trp	rs201148179	missense variant	-	NC_000004.12:g.1978874C>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1355Pro	rs1280034307	missense variant	-	NC_000004.12:g.1978875G>C	TOPMed,gnomAD
NSD2	O96028	p.Arg1355Gln	rs1280034307	missense variant	-	NC_000004.12:g.1978875G>A	TOPMed,gnomAD
NSD2	O96028	p.Arg1356Lys	rs762564946	missense variant	-	NC_000004.12:g.1978878G>A	ExAC,gnomAD
NSD2	O96028	p.Gly1357Ala	rs753305456	missense variant	-	NC_000004.12:g.1978881G>C	ExAC,gnomAD
NSD2	O96028	p.Gly1357Ser	rs767888998	missense variant	-	NC_000004.12:g.1978880G>A	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1357Asp	rs753305456	missense variant	-	NC_000004.12:g.1978881G>A	ExAC,gnomAD
NSD2	O96028	p.Trp1358Ter	rs1553881444	stop gained	-	NC_000004.12:g.1978885G>A	-
NSD2	O96028	p.Trp1358Ter	RCV000500590	nonsense	-	NC_000004.12:g.1978885G>A	ClinVar
NSD2	O96028	p.Arg1359Gly	rs764374372	missense variant	-	NC_000004.12:g.1978886C>G	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Arg1359Trp	rs764374372	missense variant	-	NC_000004.12:g.1978886C>T	ExAC,TOPMed,gnomAD
NSD2	O96028	p.Val1361Ile	rs757420003	missense variant	-	NC_000004.12:g.1978892G>A	ExAC,gnomAD
NSD2	O96028	p.Val1361Ala	rs997272577	missense variant	-	NC_000004.12:g.1978893T>C	TOPMed
NSD2	O96028	p.Gly1364Ser	rs548852837	missense variant	-	NC_000004.12:g.1978901G>A	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Gly1364Cys	rs548852837	missense variant	-	NC_000004.12:g.1978901G>T	1000Genomes,ExAC,TOPMed,gnomAD
NSD2	O96028	p.Lys1365Glu	rs758550808	missense variant	-	NC_000004.12:g.1978904A>G	ExAC,gnomAD
ADH1C	P00326	p.Ser2Asn	rs781079400	missense variant	-	NC_000004.12:g.99352671C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ala4Ser	rs1158068945	missense variant	-	NC_000004.12:g.99352666C>A	TOPMed
ADH1C	P00326	p.Ala4Val	rs757117434	missense variant	-	NC_000004.12:g.99352665G>A	ExAC,gnomAD
ADH1C	P00326	p.Gly5Glu	COSN5029085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99352662C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Val7Ile	rs1166680275	missense variant	-	NC_000004.12:g.99347846C>T	gnomAD
ADH1C	P00326	p.Val7Ter	COSN23016387	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.99352658T>-	NCI-TCGA Cosmic
ADH1C	P00326	p.Val7Gly	rs1272458352	missense variant	-	NC_000004.12:g.99347845A>C	TOPMed
ADH1C	P00326	p.Ala13Ser	rs746809084	missense variant	-	NC_000004.12:g.99347828C>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ala13Pro	rs746809084	missense variant	-	NC_000004.12:g.99347828C>G	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val14Leu	COSN24411239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347825C>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Trp16Arg	rs1165738932	missense variant	-	NC_000004.12:g.99347819A>G	gnomAD
ADH1C	P00326	p.Trp16Ter	rs1478551212	stop gained	-	NC_000004.12:g.99347818C>T	gnomAD
ADH1C	P00326	p.Glu17Lys	COSN5029084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347816C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Leu18Val	rs1199384462	missense variant	-	NC_000004.12:g.99347813A>C	gnomAD
ADH1C	P00326	p.Leu18Ser	rs758391799	missense variant	-	NC_000004.12:g.99347812A>G	ExAC,gnomAD
ADH1C	P00326	p.Lys19Asn	rs748223863	missense variant	-	NC_000004.12:g.99347808C>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Lys20Glu	rs1181502021	missense variant	-	NC_000004.12:g.99347807T>C	TOPMed
ADH1C	P00326	p.Pro21Ser	COSN5029083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347804G>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Ser23Phe	COSN5029082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347797G>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Ile24Thr	rs931089065	missense variant	-	NC_000004.12:g.99347794A>G	TOPMed
ADH1C	P00326	p.Ile24Val	rs779093264	missense variant	-	NC_000004.12:g.99347795T>C	ExAC,gnomAD
ADH1C	P00326	p.Glu28Asp	COSN8952823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347781C>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Glu28Asp	rs1221712789	missense variant	-	NC_000004.12:g.99347781C>G	gnomAD
ADH1C	P00326	p.Val29Phe	rs368024231	missense variant	-	NC_000004.12:g.99347780C>A	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Pro32Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99347771G>A	NCI-TCGA
ADH1C	P00326	p.Pro32Leu	rs756481534	missense variant	-	NC_000004.12:g.99347770G>A	ExAC,gnomAD
ADH1C	P00326	p.Ala34Val	rs1353697507	missense variant	-	NC_000004.12:g.99347764G>A	gnomAD
ADH1C	P00326	p.Ala34Ser	rs1173779287	missense variant	-	NC_000004.12:g.99347765C>A	TOPMed
ADH1C	P00326	p.His35Tyr	rs1328957743	missense variant	-	NC_000004.12:g.99347762G>A	gnomAD
ADH1C	P00326	p.Glu36Lys	COSN8356833	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347759C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Arg38His	rs768131391	missense variant	-	NC_000004.12:g.99347752C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg38Cys	rs750873906	missense variant	-	NC_000004.12:g.99347753G>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg38Leu	rs768131391	missense variant	-	NC_000004.12:g.99347752C>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ile39Val	rs770875819	missense variant	-	NC_000004.12:g.99347750T>C	TOPMed,gnomAD
ADH1C	P00326	p.Ile39Leu	rs770875819	missense variant	-	NC_000004.12:g.99347750T>G	TOPMed,gnomAD
ADH1C	P00326	p.Ile39Phe	rs770875819	missense variant	-	NC_000004.12:g.99347750T>A	TOPMed,gnomAD
ADH1C	P00326	p.Lys40Asn	rs762449854	missense variant	-	NC_000004.12:g.99347745C>A	ExAC,gnomAD
ADH1C	P00326	p.Met41Thr	rs1424807742	missense variant	-	NC_000004.12:g.99347143A>G	TOPMed
ADH1C	P00326	p.Val42Ala	rs1242777340	missense variant	-	NC_000004.12:g.99347140A>G	gnomAD
ADH1C	P00326	p.Ala44Val	rs1430680244	missense variant	-	NC_000004.12:g.99347134G>A	TOPMed,gnomAD
ADH1C	P00326	p.Ala44Thr	rs752060970	missense variant	-	NC_000004.12:g.99347135C>T	ExAC,gnomAD
ADH1C	P00326	p.Cys47Ser	rs764508784	missense variant	-	NC_000004.12:g.99347125C>G	ExAC,gnomAD
ADH1C	P00326	p.Arg48His	rs35385902	missense variant	-	NC_000004.12:g.99347122C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg48Cys	rs759025388	missense variant	-	NC_000004.12:g.99347123G>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg48Leu	rs35385902	missense variant	-	NC_000004.12:g.99347122C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Glu51Asp	rs772973805	missense variant	-	NC_000004.12:g.99347112C>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Glu51Asp	rs772973805	missense variant	-	NC_000004.12:g.99347112C>G	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val53Met	rs761544047	missense variant	-	NC_000004.12:g.99347108C>T	ExAC,gnomAD
ADH1C	P00326	p.Val54Phe	rs757743167	missense variant	-	NC_000004.12:g.99347105C>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ser55Asn	rs201365141	missense variant	-	NC_000004.12:g.99347101C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ser55Arg	rs749381405	missense variant	-	NC_000004.12:g.99347100A>C	ExAC,gnomAD
ADH1C	P00326	p.Asn57Lys	rs1452382320	missense variant	-	NC_000004.12:g.99347094G>C	TOPMed,gnomAD
ADH1C	P00326	p.Thr60Asn	rs1359192686	missense variant	-	NC_000004.12:g.99347086G>T	gnomAD
ADH1C	P00326	p.Thr60Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99347087T>C	NCI-TCGA
ADH1C	P00326	p.Leu62PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.99347081G>-	NCI-TCGA
ADH1C	P00326	p.Pro63Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.99347076_99347079AGGA>-	NCI-TCGA
ADH1C	P00326	p.Pro63Ser	COSN2378825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347078G>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Val64Ala	rs770118058	missense variant	-	NC_000004.12:g.99347074A>G	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.His68Leu	rs746038367	missense variant	-	NC_000004.12:g.99347062T>A	ExAC,gnomAD
ADH1C	P00326	p.Glu69Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99347058C>A	NCI-TCGA
ADH1C	P00326	p.Ala71Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99347053G>T	NCI-TCGA
ADH1C	P00326	p.Gly72Ser	rs751880475	missense variant	-	NC_000004.12:g.99347051C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Gly72Asp	rs1257068723	missense variant	-	NC_000004.12:g.99347050C>T	TOPMed,gnomAD
ADH1C	P00326	p.Gly72Cys	rs751880475	missense variant	-	NC_000004.12:g.99347051C>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val74Met	rs753360532	missense variant	-	NC_000004.12:g.99347045C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val74Leu	rs753360532	missense variant	-	NC_000004.12:g.99347045C>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Glu75Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99347042C>T	NCI-TCGA
ADH1C	P00326	p.Glu75Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99347040T>G	NCI-TCGA
ADH1C	P00326	p.Glu75Asp	COSN4945790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347040T>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Ser76Gly	rs371594597	missense variant	-	NC_000004.12:g.99347039T>C	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ser76Asn	rs760204028	missense variant	-	NC_000004.12:g.99347038C>T	ExAC,gnomAD
ADH1C	P00326	p.Val77Ile	rs1290729038	missense variant	-	NC_000004.12:g.99347036C>T	gnomAD
ADH1C	P00326	p.Val77Ala	rs750038735	missense variant	-	NC_000004.12:g.99347035A>G	ExAC,gnomAD
ADH1C	P00326	p.Gly78Ter	rs283413	stop gained	-	NC_000004.12:g.99347033C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Gly78Ter	RCV000019812	nonsense	Parkinson disease, mitochondrial	NC_000004.12:g.99347033C>A	ClinVar
ADH1C	P00326	p.Gly78Arg	rs283413	missense variant	-	NC_000004.12:g.99347033C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Glu79Gly	rs761613003	missense variant	-	NC_000004.12:g.99347029T>C	ExAC,gnomAD
ADH1C	P00326	p.Gly80Trp	rs1381175547	missense variant	-	NC_000004.12:g.99347027C>A	gnomAD
ADH1C	P00326	p.Val81Leu	rs1300664218	missense variant	-	NC_000004.12:g.99347024C>A	gnomAD
ADH1C	P00326	p.Val81Met	COSN5029078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99347024C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Val84Asp	rs914530843	missense variant	-	NC_000004.12:g.99347014A>T	TOPMed
ADH1C	P00326	p.Gly87Ala	rs571410967	missense variant	-	NC_000004.12:g.99345266C>G	1000Genomes
ADH1C	P00326	p.Asp88Asn	rs751345244	missense variant	-	NC_000004.12:g.99345264C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Asp88Glu	rs892129703	missense variant	-	NC_000004.12:g.99345262A>T	TOPMed,gnomAD
ADH1C	P00326	p.Lys89Glu	rs1054058556	missense variant	-	NC_000004.12:g.99345261T>C	TOPMed
ADH1C	P00326	p.Ile91Phe	COSN5029077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99345255T>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Pro92Leu	rs775497806	missense variant	-	NC_000004.12:g.99345251G>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Pro92Gln	rs775497806	missense variant	-	NC_000004.12:g.99345251G>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Leu93Pro	rs1405740704	missense variant	-	NC_000004.12:g.99345248A>G	TOPMed
ADH1C	P00326	p.Leu93Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99345249G>A	NCI-TCGA
ADH1C	P00326	p.Thr95Ile	rs202000818	missense variant	-	NC_000004.12:g.99345242G>A	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Pro96Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99345240G>T	NCI-TCGA
ADH1C	P00326	p.Gln97Arg	rs771155881	missense variant	-	NC_000004.12:g.99345236T>C	ExAC,gnomAD
ADH1C	P00326	p.Cys98Ter	rs1346474268	stop gained	-	NC_000004.12:g.99345232A>T	TOPMed
ADH1C	P00326	p.Cys101Tyr	rs1444973940	missense variant	-	NC_000004.12:g.99345224C>T	gnomAD
ADH1C	P00326	p.Cys101Arg	rs1306763477	missense variant	-	NC_000004.12:g.99345225A>G	gnomAD
ADH1C	P00326	p.Arg102Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99345221C>T	NCI-TCGA
ADH1C	P00326	p.Ile103Val	rs546707394	missense variant	-	NC_000004.12:g.99345219T>C	1000Genomes,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ile103Met	rs1269269947	missense variant	-	NC_000004.12:g.99345217A>C	TOPMed
ADH1C	P00326	p.Pro107Thr	rs567301265	missense variant	-	NC_000004.12:g.99345207G>T	1000Genomes,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Pro107Gln	rs1170791379	missense variant	-	NC_000004.12:g.99345206G>T	gnomAD
ADH1C	P00326	p.Glu108Gly	rs748517793	missense variant	-	NC_000004.12:g.99345203T>C	ExAC,gnomAD
ADH1C	P00326	p.Tyr111His	rs1378086954	missense variant	-	NC_000004.12:g.99345195A>G	gnomAD
ADH1C	P00326	p.Tyr111Ter	rs1177814017	stop gained	-	NC_000004.12:g.99345193G>C	gnomAD
ADH1C	P00326	p.Leu113Trp	rs1437523449	missense variant	-	NC_000004.12:g.99345188A>C	gnomAD
ADH1C	P00326	p.Gly118Arg	rs181982105	missense variant	-	NC_000004.12:g.99345077C>G	1000Genomes,ExAC,gnomAD
ADH1C	P00326	p.Gly118Ser	rs181982105	missense variant	-	NC_000004.12:g.99345077C>T	1000Genomes,ExAC,gnomAD
ADH1C	P00326	p.Gly118Asp	rs780641849	missense variant	-	NC_000004.12:g.99345076C>T	ExAC,gnomAD
ADH1C	P00326	p.Pro120Arg	rs778298993	missense variant	-	NC_000004.12:g.99345070G>C	TOPMed
ADH1C	P00326	p.Pro120Leu	rs778298993	missense variant	-	NC_000004.12:g.99345070G>A	TOPMed
ADH1C	P00326	p.Arg121Pro	rs1472863843	missense variant	-	NC_000004.12:g.99345067C>G	gnomAD
ADH1C	P00326	p.Arg121Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99345067C>T	NCI-TCGA
ADH1C	P00326	p.Arg121Trp	rs770280294	missense variant	-	NC_000004.12:g.99345068G>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Gly122Val	rs1422281589	missense variant	-	NC_000004.12:g.99345064C>A	gnomAD
ADH1C	P00326	p.Gly122Glu	COSN16301477	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99345064C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Leu124Arg	rs1192195322	missense variant	-	NC_000004.12:g.99345058A>C	gnomAD
ADH1C	P00326	p.Gln125Arg	rs777274828	missense variant	-	NC_000004.12:g.99345055T>C	ExAC,gnomAD
ADH1C	P00326	p.Asp126Asn	COSN5029074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99345053C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Thr128Ile	rs758187825	missense variant	-	NC_000004.12:g.99345046G>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Thr128Asn	rs758187825	missense variant	-	NC_000004.12:g.99345046G>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg129Lys	COSN23016386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99345043C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Arg129Ser	rs1229101854	missense variant	-	NC_000004.12:g.99345042C>G	gnomAD
ADH1C	P00326	p.Arg129Met	rs778903541	missense variant	-	NC_000004.12:g.99345043C>A	ExAC,gnomAD
ADH1C	P00326	p.Arg130Thr	rs76624281	missense variant	-	NC_000004.12:g.99345040C>G	ExAC,gnomAD
ADH1C	P00326	p.Arg130Lys	rs76624281	missense variant	-	NC_000004.12:g.99345040C>T	ExAC,gnomAD
ADH1C	P00326	p.Ser134Arg	rs532369179	missense variant	-	NC_000004.12:g.99345027G>C	1000Genomes,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Gly135Arg	rs760614352	missense variant	-	NC_000004.12:g.99345026C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ile138Val	rs1270646675	missense variant	-	NC_000004.12:g.99345017T>C	gnomAD
ADH1C	P00326	p.His139Gln	rs762064113	missense variant	-	NC_000004.12:g.99345012G>T	ExAC,gnomAD
ADH1C	P00326	p.His139Tyr	rs371660994	missense variant	-	NC_000004.12:g.99345014G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.His140Leu	rs774576021	missense variant	-	NC_000004.12:g.99345010T>A	ExAC,gnomAD
ADH1C	P00326	p.Phe141Leu	rs35725608	missense variant	-	NC_000004.12:g.99345006G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Phe141Ser	rs1184420268	missense variant	-	NC_000004.12:g.99345007A>G	TOPMed
ADH1C	P00326	p.Val142Ile	rs376551492	missense variant	-	NC_000004.12:g.99345005C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val142Ala	rs1015170364	missense variant	-	NC_000004.12:g.99345004A>G	TOPMed
ADH1C	P00326	p.Gly143Ser	rs746492884	missense variant	-	NC_000004.12:g.99345002C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val144Ile	rs78241133	missense variant	-	NC_000004.12:g.99344999C>T	-
ADH1C	P00326	p.Ser145Asn	rs771826482	missense variant	-	NC_000004.12:g.99344995C>T	ExAC,gnomAD
ADH1C	P00326	p.Gln149Arg	rs766776134	missense variant	-	NC_000004.12:g.99344983T>C	-
ADH1C	P00326	p.Thr151Arg	rs1222703181	missense variant	-	NC_000004.12:g.99344977G>C	gnomAD
ADH1C	P00326	p.Asp154His	rs1256353712	missense variant	-	NC_000004.12:g.99344969C>G	gnomAD
ADH1C	P00326	p.Glu155Ala	rs778742207	missense variant	-	NC_000004.12:g.99344965T>G	ExAC,gnomAD
ADH1C	P00326	p.Ala159Thr	rs753685476	missense variant	-	NC_000004.12:g.99344954C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ala159Gly	rs779842455	missense variant	-	NC_000004.12:g.99344953G>C	ExAC,gnomAD
ADH1C	P00326	p.Lys160Arg	rs756144588	missense variant	-	NC_000004.12:g.99344950T>C	ExAC,gnomAD
ADH1C	P00326	p.Ile161Thr	rs750441233	missense variant	-	NC_000004.12:g.99344947A>G	ExAC,gnomAD
ADH1C	P00326	p.Ala163Thr	rs1333702184	missense variant	-	NC_000004.12:g.99344942C>T	TOPMed
ADH1C	P00326	p.Ala164Val	rs541924884	missense variant	-	NC_000004.12:g.99344938G>A	gnomAD
ADH1C	P00326	p.Ser165Pro	rs1328805621	missense variant	-	NC_000004.12:g.99344936A>G	gnomAD
ADH1C	P00326	p.Ser165Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99344935G>A	NCI-TCGA
ADH1C	P00326	p.Pro166Leu	rs757356943	missense variant	-	NC_000004.12:g.99344932G>A	ExAC,gnomAD
ADH1C	P00326	p.Pro166Thr	rs34195308	missense variant	-	NC_000004.12:g.99344933G>T	1000Genomes,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Pro166Ser	rs34195308	missense variant	-	NC_000004.12:g.99344933G>A	UniProt,dbSNP
ADH1C	P00326	p.Pro166Ser	VAR_023993	missense variant	-	NC_000004.12:g.99344933G>A	UniProt
ADH1C	P00326	p.Pro166Ser	rs34195308	missense variant	-	NC_000004.12:g.99344933G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Glu168Lys	rs1238324089	missense variant	-	NC_000004.12:g.99344927C>T	gnomAD
ADH1C	P00326	p.Lys169Asn	rs1413284579	missense variant	-	NC_000004.12:g.99344922T>G	TOPMed,gnomAD
ADH1C	P00326	p.Lys169Arg	rs751713187	missense variant	-	NC_000004.12:g.99344923T>C	ExAC,gnomAD
ADH1C	P00326	p.Cys171Gly	rs1243827253	missense variant	-	NC_000004.12:g.99344918A>C	TOPMed
ADH1C	P00326	p.Cys171Phe	rs764313136	missense variant	-	NC_000004.12:g.99344917C>A	ExAC,gnomAD
ADH1C	P00326	p.Ile173Thr	rs113554896	missense variant	-	NC_000004.12:g.99344911A>G	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ile173Ser	rs113554896	missense variant	-	NC_000004.12:g.99344911A>C	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ile173Phe	rs763210161	missense variant	-	NC_000004.12:g.99344912T>A	ExAC,gnomAD
ADH1C	P00326	p.Cys175Trp	rs777029507	missense variant	-	NC_000004.12:g.99344904A>C	ExAC,gnomAD
ADH1C	P00326	p.Gly176Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.99344903C>A	NCI-TCGA
ADH1C	P00326	p.Gly176Arg	COSN8356832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99344903C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Ser178Leu	rs774092660	missense variant	-	NC_000004.12:g.99344896G>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Tyr181Cys	COSN16303149	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99344887T>C	NCI-TCGA Cosmic
ADH1C	P00326	p.Gly182Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99344884C>T	NCI-TCGA
ADH1C	P00326	p.Gly182Trp	rs534676738	missense variant	-	NC_000004.12:g.99344885C>A	1000Genomes,ExAC,gnomAD
ADH1C	P00326	p.Ser183Pro	rs1444484034	missense variant	-	NC_000004.12:g.99344882A>G	gnomAD
ADH1C	P00326	p.Ser183Thr	COSN8952822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99344882A>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Ala184Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99344879C>A	NCI-TCGA
ADH1C	P00326	p.Lys186Asn	rs1373541559	missense variant	-	NC_000004.12:g.99344871T>G	gnomAD
ADH1C	P00326	p.Lys186Glu	rs1001108935	missense variant	-	NC_000004.12:g.99344873T>C	TOPMed,gnomAD
ADH1C	P00326	p.Val187Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99344870C>A	NCI-TCGA
ADH1C	P00326	p.Ala188Val	rs755985172	missense variant	-	NC_000004.12:g.99344866G>A	ExAC,gnomAD
ADH1C	P00326	p.Lys189Glu	rs781110621	missense variant	-	NC_000004.12:g.99344864T>C	ExAC,gnomAD
ADH1C	P00326	p.Lys189Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99344863T>A	NCI-TCGA
ADH1C	P00326	p.Lys189Asn	COSN1083498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99344862C>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Val190Phe	rs758427942	missense variant	-	NC_000004.12:g.99343055C>A	ExAC,gnomAD
ADH1C	P00326	p.Thr191Ser	rs200810515	missense variant	-	NC_000004.12:g.99343052T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Thr191Asn	rs779008943	missense variant	-	NC_000004.12:g.99343051G>T	ExAC,gnomAD
ADH1C	P00326	p.Pro192Leu	COSN24408911	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99343048G>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Ser194Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99343042G>A	NCI-TCGA
ADH1C	P00326	p.Ser194Phe	NCI-TCGA novel	insertion	-	NC_000004.12:g.99343041_99343042insAAG	NCI-TCGA
ADH1C	P00326	p.Cys196Gly	rs751095026	missense variant	-	NC_000004.12:g.99343037A>C	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ala197Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99343033G>A	NCI-TCGA
ADH1C	P00326	p.Gly200Val	rs377645569	missense variant	-	NC_000004.12:g.99343024C>A	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Leu201Val	rs762371733	missense variant	-	NC_000004.12:g.99343022G>C	ExAC,gnomAD
ADH1C	P00326	p.Gly202Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99343018C>T	NCI-TCGA
ADH1C	P00326	p.Gly203Arg	rs78115560	missense variant	-	NC_000004.12:g.99343016C>T	ExAC,gnomAD
ADH1C	P00326	p.Gly203Trp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99343016C>A	NCI-TCGA
ADH1C	P00326	p.Gly203Arg	rs78115560	missense variant	-	NC_000004.12:g.99343016C>G	ExAC,gnomAD
ADH1C	P00326	p.Val204Leu	rs528886854	missense variant	-	NC_000004.12:g.99343013C>G	1000Genomes,ExAC,gnomAD
ADH1C	P00326	p.Gly205Asp	rs955883857	missense variant	-	NC_000004.12:g.99343009C>T	TOPMed
ADH1C	P00326	p.Gly205Ser	rs74561381	missense variant	-	NC_000004.12:g.99343010C>T	gnomAD
ADH1C	P00326	p.Val208Ile	rs772124828	missense variant	-	NC_000004.12:g.99343001C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val208Ala	rs748191499	missense variant	-	NC_000004.12:g.99343000A>G	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Met210Thr	rs755222271	missense variant	-	NC_000004.12:g.99342994A>G	ExAC,gnomAD
ADH1C	P00326	p.Cys212Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99342989A>T	NCI-TCGA
ADH1C	P00326	p.Ala214Thr	rs1157583785	missense variant	-	NC_000004.12:g.99342983C>T	TOPMed
ADH1C	P00326	p.Ala218Thr	rs1224713673	missense variant	-	NC_000004.12:g.99342971C>T	gnomAD
ADH1C	P00326	p.Ala218Val	rs77199410	missense variant	-	NC_000004.12:g.99342970G>A	ExAC,gnomAD
ADH1C	P00326	p.Ala218Asp	rs77199410	missense variant	-	NC_000004.12:g.99342970G>T	ExAC,gnomAD
ADH1C	P00326	p.Arg219Ile	COSN15658467	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342967C>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Ile220Thr	rs930271100	missense variant	-	NC_000004.12:g.99342964A>G	TOPMed
ADH1C	P00326	p.Ile221Val	rs922751507	missense variant	-	NC_000004.12:g.99342962T>C	TOPMed
ADH1C	P00326	p.Ala222Asp	COSN8952821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342958G>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Asp224Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99342953C>T	NCI-TCGA
ADH1C	P00326	p.Asn226Lys	rs6413444	missense variant	-	NC_000004.12:g.99342945G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Asn226Ser	rs767919757	missense variant	-	NC_000004.12:g.99342946T>C	ExAC,gnomAD
ADH1C	P00326	p.Lys229Glu	rs1228781883	missense variant	-	NC_000004.12:g.99342938T>C	gnomAD
ADH1C	P00326	p.Lys229Ile	rs1330942163	missense variant	-	NC_000004.12:g.99342937T>A	gnomAD
ADH1C	P00326	p.Lys229Thr	COSN228239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342937T>G	NCI-TCGA Cosmic
ADH1C	P00326	p.Lys229Asn	COSN1083499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342936T>G	NCI-TCGA Cosmic
ADH1C	P00326	p.Phe230Val	rs764911568	missense variant	-	NC_000004.12:g.99342935A>C	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Phe230Tyr	rs759235107	missense variant	-	NC_000004.12:g.99342934A>T	ExAC,gnomAD
ADH1C	P00326	p.Phe230Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99342934A>C	NCI-TCGA
ADH1C	P00326	p.Ala231Ser	rs1239755638	missense variant	-	NC_000004.12:g.99342932C>A	TOPMed
ADH1C	P00326	p.Ala233Thr	COSN14654509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342926C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Lys234Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99342922T>C	NCI-TCGA
ADH1C	P00326	p.Glu235Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99342920C>T	NCI-TCGA
ADH1C	P00326	p.Glu235Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.99342920C>A	NCI-TCGA
ADH1C	P00326	p.Glu235Ala	rs770670481	missense variant	-	NC_000004.12:g.99342919T>G	ExAC,gnomAD
ADH1C	P00326	p.Leu236Phe	rs773145187	missense variant	-	NC_000004.12:g.99342915C>G	ExAC,gnomAD
ADH1C	P00326	p.Leu236Phe	rs773145187	missense variant	-	NC_000004.12:g.99342915C>A	ExAC,gnomAD
ADH1C	P00326	p.Gly237Asp	rs369471308	missense variant	-	NC_000004.12:g.99342913C>T	ESP,ExAC,gnomAD
ADH1C	P00326	p.Glu240Ala	rs748255747	missense variant	-	NC_000004.12:g.99342904T>G	ExAC,gnomAD
ADH1C	P00326	p.Ile242Val	rs778904475	missense variant	-	NC_000004.12:g.99342899T>C	ExAC,gnomAD
ADH1C	P00326	p.Asn243Lys	rs768904453	missense variant	-	NC_000004.12:g.99342894G>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Asp246Tyr	COSN24411241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342887C>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Asp246Gly	rs76534689	missense variant	-	NC_000004.12:g.99342886T>C	1000Genomes,ExAC,gnomAD
ADH1C	P00326	p.Tyr247Cys	rs1177587007	missense variant	-	NC_000004.12:g.99342883T>C	gnomAD
ADH1C	P00326	p.Lys248Arg	rs1252027509	missense variant	-	NC_000004.12:g.99342880T>C	gnomAD
ADH1C	P00326	p.Lys248Asn	COSN1083500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342879C>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Lys248Glu	rs1289542968	missense variant	-	NC_000004.12:g.99342881T>C	TOPMed
ADH1C	P00326	p.Lys249Ile	COSN228426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342877T>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Pro250His	rs746289093	missense variant	-	NC_000004.12:g.99342874G>T	ExAC,gnomAD
ADH1C	P00326	p.Gln252Pro	rs1201032348	missense variant	-	NC_000004.12:g.99342868T>G	TOPMed
ADH1C	P00326	p.Lys256Thr	rs1344966593	missense variant	-	NC_000004.12:g.99342856T>G	gnomAD
ADH1C	P00326	p.Lys256Asn	rs1254725879	missense variant	-	NC_000004.12:g.99342855C>A	gnomAD
ADH1C	P00326	p.Glu257Lys	COSN5029070	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99342854C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Thr259Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99342847G>A	NCI-TCGA
ADH1C	P00326	p.Asp260Asn	rs79501596	missense variant	-	NC_000004.12:g.99342845C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Gly262Asp	rs79812657	missense variant	-	NC_000004.12:g.99342838C>T	gnomAD
ADH1C	P00326	p.Ser266Leu	rs1005267020	missense variant	-	NC_000004.12:g.99342826G>A	TOPMed,gnomAD
ADH1C	P00326	p.Phe267Leu	rs545631323	missense variant	-	NC_000004.12:g.99342822A>T	1000Genomes,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Glu268Ter	rs1395485774	stop gained	-	NC_000004.12:g.99342821C>A	gnomAD
ADH1C	P00326	p.Val269Ile	rs766035972	missense variant	-	NC_000004.12:g.99342818C>T	ExAC,gnomAD
ADH1C	P00326	p.Ile270Met	rs375107720	missense variant	-	NC_000004.12:g.99342813G>C	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Gly271Ser	rs372087418	missense variant	-	NC_000004.12:g.99342812C>T	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg272Trp	rs1395450124	missense variant	-	NC_000004.12:g.99342809G>A	TOPMed,gnomAD
ADH1C	P00326	p.Arg272Gln	RCV000019810	missense variant	Alcohol dependence	NC_000004.12:g.99342808C>T	ClinVar
ADH1C	P00326	p.Arg272Gln	rs1693482	missense variant	-	NC_000004.12:g.99342808C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg272Gln	rs1693482	missense variant	-	NC_000004.12:g.99342808C>T	UniProt,dbSNP
ADH1C	P00326	p.Arg272Gln	VAR_000428	missense variant	-	NC_000004.12:g.99342808C>T	UniProt
ADH1C	P00326	p.Met276Thr	rs78836241	missense variant	-	NC_000004.12:g.99342796A>G	-
ADH1C	P00326	p.Leu280Met	COSN5029064	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99340701G>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Leu280Arg	rs1404410224	missense variant	-	NC_000004.12:g.99340700A>C	TOPMed,gnomAD
ADH1C	P00326	p.Cys282Arg	COSN24411242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99340695A>G	NCI-TCGA Cosmic
ADH1C	P00326	p.Cys283Arg	rs951933118	missense variant	-	NC_000004.12:g.99340692A>G	TOPMed
ADH1C	P00326	p.Gly288Asp	rs1423604859	missense variant	-	NC_000004.12:g.99340676C>T	gnomAD
ADH1C	P00326	p.Thr289Arg	rs779588834	missense variant	-	NC_000004.12:g.99340673G>C	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Thr289Ala	rs1384383040	missense variant	-	NC_000004.12:g.99340674T>C	TOPMed
ADH1C	P00326	p.Ser290Arg	rs1476631183	missense variant	-	NC_000004.12:g.99340669A>C	TOPMed,gnomAD
ADH1C	P00326	p.Val291Phe	rs1243038295	missense variant	-	NC_000004.12:g.99340668C>A	gnomAD
ADH1C	P00326	p.Ile292Thr	rs1408118183	missense variant	-	NC_000004.12:g.99340664A>G	gnomAD
ADH1C	P00326	p.Ile292Phe	rs200253359	missense variant	-	NC_000004.12:g.99340665T>A	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val293Leu	rs780905591	missense variant	-	NC_000004.12:g.99340662C>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val293Ala	rs1214454664	missense variant	-	NC_000004.12:g.99340661A>G	gnomAD
ADH1C	P00326	p.Val295Leu	rs751435373	missense variant	-	NC_000004.12:g.99340656C>G	ExAC,gnomAD
ADH1C	P00326	p.Val295Ala	rs1020582861	missense variant	-	NC_000004.12:g.99340655A>G	TOPMed
ADH1C	P00326	p.Val295Ile	COSN5029063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99340656C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Pro296Leu	COSN5029062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99340652G>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Pro297Ser	rs1255155178	missense variant	-	NC_000004.12:g.99340650G>A	TOPMed
ADH1C	P00326	p.Asp298Ala	rs1212726831	missense variant	-	NC_000004.12:g.99340646T>G	gnomAD
ADH1C	P00326	p.Ser299Phe	rs764088804	missense variant	-	NC_000004.12:g.99340643G>A	ExAC,gnomAD
ADH1C	P00326	p.Gln300Lys	rs1270557545	missense variant	-	NC_000004.12:g.99340641G>T	gnomAD
ADH1C	P00326	p.Gln300His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99340639C>A	NCI-TCGA
ADH1C	P00326	p.Ser303Leu	rs752703547	missense variant	-	NC_000004.12:g.99340631G>A	ExAC,gnomAD
ADH1C	P00326	p.Asn305Lys	rs765368147	missense variant	-	NC_000004.12:g.99340624G>T	ExAC,gnomAD
ADH1C	P00326	p.Pro306Ser	rs759663608	missense variant	-	NC_000004.12:g.99340623G>A	ExAC,gnomAD
ADH1C	P00326	p.Pro306Ala	rs759663608	missense variant	-	NC_000004.12:g.99340623G>C	ExAC,gnomAD
ADH1C	P00326	p.Met307Val	rs571087290	missense variant	-	NC_000004.12:g.99340620T>C	ExAC,gnomAD
ADH1C	P00326	p.Met307Leu	rs571087290	missense variant	-	NC_000004.12:g.99340620T>G	ExAC,gnomAD
ADH1C	P00326	p.Leu310Pro	rs372958457	missense variant	-	NC_000004.12:g.99340610A>G	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Thr311Asn	rs369383827	missense variant	-	NC_000004.12:g.99340607G>T	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg313Cys	rs779431549	missense variant	-	NC_000004.12:g.99340602G>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg313His	rs769121542	missense variant	-	NC_000004.12:g.99340601C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Thr314Met	rs778107991	missense variant	-	NC_000004.12:g.99340598G>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Trp315Ter	COSN8356830	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.99340594C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Lys316Arg	rs1206631658	missense variant	-	NC_000004.12:g.99340592T>C	gnomAD
ADH1C	P00326	p.Gly317Arg	rs1008144881	missense variant	-	NC_000004.12:g.99340590C>T	TOPMed
ADH1C	P00326	p.Gly317Ter	COSN1083501	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.99340590C>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Ala318Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99340587C>T	NCI-TCGA
ADH1C	P00326	p.Ile319Val	rs1273572942	missense variant	-	NC_000004.12:g.99340584T>C	gnomAD
ADH1C	P00326	p.Phe320Ser	rs751373066	missense variant	-	NC_000004.12:g.99340580A>G	ExAC,gnomAD
ADH1C	P00326	p.Gly321Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99340577C>T	NCI-TCGA
ADH1C	P00326	p.Gly321Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.99340578C>A	NCI-TCGA
ADH1C	P00326	p.Lys324Gln	rs1373426441	missense variant	-	NC_000004.12:g.99339710T>G	gnomAD
ADH1C	P00326	p.Lys324Asn	rs866370741	missense variant	-	NC_000004.12:g.99339708C>G	gnomAD
ADH1C	P00326	p.Lys324Asn	rs866370741	missense variant	-	NC_000004.12:g.99339708C>A	gnomAD
ADH1C	P00326	p.Ser325Cys	rs1413491725	missense variant	-	NC_000004.12:g.99339707T>A	gnomAD
ADH1C	P00326	p.Glu327Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.99339701C>A	NCI-TCGA
ADH1C	P00326	p.Glu327Lys	COSN1083502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339701C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Ser328Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99339697G>A	NCI-TCGA
ADH1C	P00326	p.Val329Ala	rs1419431885	missense variant	-	NC_000004.12:g.99339694A>G	gnomAD
ADH1C	P00326	p.Val329Phe	rs746619940	missense variant	-	NC_000004.12:g.99339695C>A	ExAC,gnomAD
ADH1C	P00326	p.Val329Ile	rs746619940	missense variant	-	NC_000004.12:g.99339695C>T	ExAC,gnomAD
ADH1C	P00326	p.Lys331Arg	rs777571987	missense variant	-	NC_000004.12:g.99339688T>C	ExAC,gnomAD
ADH1C	P00326	p.Ala334Ser	rs758208056	missense variant	-	NC_000004.12:g.99339680C>A	ExAC,gnomAD
ADH1C	P00326	p.Ala338Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99339668C>T	NCI-TCGA
ADH1C	P00326	p.Lys340Thr	rs1474185764	missense variant	-	NC_000004.12:g.99339661T>G	gnomAD
ADH1C	P00326	p.Ser342Ala	rs1259473057	missense variant	-	NC_000004.12:g.99339656A>C	gnomAD
ADH1C	P00326	p.Ala345Thr	rs1429525275	missense variant	-	NC_000004.12:g.99339647C>T	TOPMed
ADH1C	P00326	p.Ala345Val	rs1174582777	missense variant	-	NC_000004.12:g.99339646G>A	TOPMed
ADH1C	P00326	p.Ala345Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99339646G>T	NCI-TCGA
ADH1C	P00326	p.Ile347Lys	rs1487825180	missense variant	-	NC_000004.12:g.99339640A>T	gnomAD
ADH1C	P00326	p.Ile350Phe	rs698	missense variant	-	NC_000004.12:g.99339632T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ile350Val	rs698	missense variant	-	NC_000004.12:g.99339632T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Ile350Val	RCV000019811	missense variant	Alcohol dependence	NC_000004.12:g.99339632T>C	ClinVar
ADH1C	P00326	p.Pro352Thr	rs35719513	missense variant	-	NC_000004.12:g.99339626G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Glu354Gly	rs540917301	missense variant	-	NC_000004.12:g.99339619T>C	gnomAD
ADH1C	P00326	p.Glu354Lys	COSN5029057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339620C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Ile356Val	rs1339340687	missense variant	-	NC_000004.12:g.99339614T>C	TOPMed
ADH1C	P00326	p.Asn357Ile	rs1431101020	missense variant	-	NC_000004.12:g.99339610T>A	TOPMed
ADH1C	P00326	p.Asn357Lys	NCI-TCGA novel	inframe deletion	-	NC_000004.12:g.99339607_99339609TCA>-	NCI-TCGA
ADH1C	P00326	p.Gly359Glu	COSN20067891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339604C>T	NCI-TCGA Cosmic
ADH1C	P00326	p.Gly359Val	rs1296357260	missense variant	-	NC_000004.12:g.99339604C>A	gnomAD
ADH1C	P00326	p.Phe360Ser	rs756221299	missense variant	-	NC_000004.12:g.99339601A>G	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Phe360Cys	COSN1083503	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339601A>C	NCI-TCGA Cosmic
ADH1C	P00326	p.Asp361Asn	rs950884208	missense variant	-	NC_000004.12:g.99339599C>T	TOPMed,gnomAD
ADH1C	P00326	p.Asp361Gly	rs750582235	missense variant	-	NC_000004.12:g.99339598T>C	ExAC,gnomAD
ADH1C	P00326	p.Asp361His	rs950884208	missense variant	-	NC_000004.12:g.99339599C>G	TOPMed,gnomAD
ADH1C	P00326	p.Asp361Glu	rs767743596	missense variant	-	NC_000004.12:g.99339597G>T	ExAC,gnomAD
ADH1C	P00326	p.Leu362Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99339595A>G	NCI-TCGA
ADH1C	P00326	p.Arg364His	rs56247447	missense variant	-	NC_000004.12:g.99339589C>T	1000Genomes,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg364Cys	rs569012082	missense variant	-	NC_000004.12:g.99339590G>A	1000Genomes,ExAC,gnomAD
ADH1C	P00326	p.Arg364Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.99339589C>A	NCI-TCGA
ADH1C	P00326	p.Ser365Cys	COSN1083504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339586G>C	NCI-TCGA Cosmic
ADH1C	P00326	p.Ser365Pro	rs1349448514	missense variant	-	NC_000004.12:g.99339587A>G	gnomAD
ADH1C	P00326	p.Ser368Gly	rs775889514	missense variant	-	NC_000004.12:g.99339578T>C	ExAC,gnomAD
ADH1C	P00326	p.Ser368Cys	COSN24411243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99339578T>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Ile369Val	COSN158133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.99336775T>C	NCI-TCGA Cosmic
ADH1C	P00326	p.Arg370Gly	rs67420531	missense variant	-	NC_000004.12:g.99336772G>C	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg370His	rs757354662	missense variant	-	NC_000004.12:g.99336771C>T	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg370Leu	rs757354662	missense variant	-	NC_000004.12:g.99336771C>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Arg370Cys	rs67420531	missense variant	-	NC_000004.12:g.99336772G>A	ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Thr371Ala	rs777871146	missense variant	-	NC_000004.12:g.99336769T>C	ExAC,gnomAD
ADH1C	P00326	p.Thr371Ile	rs1228670926	missense variant	-	NC_000004.12:g.99336768G>A	NCI-TCGA Cosmic
ADH1C	P00326	p.Thr371Ile	rs1228670926	missense variant	-	NC_000004.12:g.99336768G>A	TOPMed,gnomAD
ADH1C	P00326	p.Val372Gly	rs760170468	missense variant	-	NC_000004.12:g.99336765A>C	ExAC,gnomAD
ADH1C	P00326	p.Val372Phe	rs370818269	missense variant	-	NC_000004.12:g.99336766C>A	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val372Ile	rs370818269	missense variant	-	NC_000004.12:g.99336766C>T	ESP,ExAC,TOPMed,gnomAD
ADH1C	P00326	p.Val372Ile	rs370818269	missense variant	-	NC_000004.12:g.99336766C>T	NCI-TCGA,NCI-TCGA Cosmic
ADH1C	P00326	p.Thr374Met	rs572227882	missense variant	-	NC_000004.12:g.99336759G>A	1000Genomes,ExAC,gnomAD
ADH1C	P00326	p.Thr374Met	rs572227882	missense variant	-	NC_000004.12:g.99336759G>A	NCI-TCGA
ADH1C	P00326	p.Thr374Lys	rs572227882	missense variant	-	NC_000004.12:g.99336759G>T	1000Genomes,ExAC,gnomAD
ADH1C	P00326	p.Phe375Leu	rs1462367189	missense variant	-	NC_000004.12:g.99336755A>T	gnomAD
DHFR	P00374	p.Val2Phe	rs1245883641	missense variant	-	NC_000005.10:g.80654486C>A	gnomAD
DHFR	P00374	p.Gly3Ala	rs1381483540	missense variant	-	NC_000005.10:g.80654482C>G	gnomAD
DHFR	P00374	p.Ser4Leu	rs199586723	missense variant	-	NC_000005.10:g.80654479G>A	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Ser4Ala	rs1281942097	missense variant	-	NC_000005.10:g.80654480A>C	TOPMed,gnomAD
DHFR	P00374	p.Ser4Ter	rs199586723	stop gained	-	NC_000005.10:g.80654479G>T	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Leu5Ile	rs780338583	missense variant	-	NC_000005.10:g.80654477G>T	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Asn6Lys	rs756401520	missense variant	-	NC_000005.10:g.80654472G>C	ExAC,gnomAD
DHFR	P00374	p.Cys7Phe	rs746083870	missense variant	-	NC_000005.10:g.80654470C>A	ExAC,gnomAD
DHFR	P00374	p.Ala10Ser	rs781563390	missense variant	-	NC_000005.10:g.80654462C>A	ExAC,gnomAD
DHFR	P00374	p.Gln13Leu	rs1197644951	missense variant	-	NC_000005.10:g.80654452T>A	gnomAD
DHFR	P00374	p.Asn14Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80654449T>C	NCI-TCGA
DHFR	P00374	p.Gly18Arg	rs61736208	missense variant	-	NC_000005.10:g.80654438C>G	ExAC,gnomAD
DHFR	P00374	p.Gly18Ser	rs61736208	missense variant	-	NC_000005.10:g.80654438C>T	ExAC,gnomAD
DHFR	P00374	p.Asn20Lys	rs1490962892	missense variant	-	NC_000005.10:g.80654430G>T	gnomAD
DHFR	P00374	p.Asp22AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.80654425T>-	NCI-TCGA
DHFR	P00374	p.Asp22Val	rs758957010	missense variant	-	NC_000005.10:g.80654425T>A	ExAC,gnomAD
DHFR	P00374	p.Leu23Pro	rs1364132118	missense variant	-	NC_000005.10:g.80654422A>G	TOPMed
DHFR	P00374	p.Arg29Lys	rs1339446031	missense variant	-	NC_000005.10:g.80654404C>T	TOPMed,gnomAD
DHFR	P00374	p.Arg29Gly	rs1215835047	missense variant	-	NC_000005.10:g.80654405T>C	gnomAD
DHFR	P00374	p.Asn30Lys	RCV000286239	missense variant	-	NC_000005.10:g.80654054A>C	ClinVar
DHFR	P00374	p.Asn30Lys	rs201745474	missense variant	-	NC_000005.10:g.80654054A>C	ESP,ExAC,TOPMed,gnomAD
DHFR	P00374	p.Asn30Thr	rs765924078	missense variant	-	NC_000005.10:g.80654055T>G	ExAC
DHFR	P00374	p.Tyr34Cys	rs1197915916	missense variant	-	NC_000005.10:g.80654043T>C	TOPMed
DHFR	P00374	p.Gln36Glu	rs767425256	missense variant	-	NC_000005.10:g.80654038G>C	ExAC,gnomAD
DHFR	P00374	p.Arg37Lys	rs1414898962	missense variant	-	NC_000005.10:g.80654034C>T	TOPMed
DHFR	P00374	p.Thr40Ile	rs761785469	missense variant	-	NC_000005.10:g.80654025G>A	ExAC,gnomAD
DHFR	P00374	p.Thr41Ile	rs1473186463	missense variant	-	NC_000005.10:g.80654022G>A	TOPMed
DHFR	P00374	p.Val44Ile	rs1382860073	missense variant	-	NC_000005.10:g.80654014C>T	TOPMed
DHFR	P00374	p.Glu45Lys	rs1032250222	missense variant	-	NC_000005.10:g.80654011C>T	TOPMed
DHFR	P00374	p.Glu45Ter	RCV000480515	frameshift	-	NC_000005.10:g.80654011del	ClinVar
DHFR	P00374	p.Asn49Lys	rs1251977833	missense variant	-	NC_000005.10:g.80649484A>C	gnomAD
DHFR	P00374	p.Leu50Gln	rs1301676659	missense variant	-	NC_000005.10:g.80649482A>T	gnomAD
DHFR	P00374	p.Ile52Thr	rs1213637006	missense variant	-	NC_000005.10:g.80649476A>G	gnomAD
DHFR	P00374	p.Met53Arg	rs755733770	missense variant	-	NC_000005.10:g.80649473A>C	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Met53Thr	rs755733770	missense variant	-	NC_000005.10:g.80649473A>G	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Gly54Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80649470C>G	NCI-TCGA
DHFR	P00374	p.Gly54Cys	rs1474639123	missense variant	-	NC_000005.10:g.80649471C>A	TOPMed
DHFR	P00374	p.Gly54Asp	rs1285372695	missense variant	-	NC_000005.10:g.80649470C>T	gnomAD
DHFR	P00374	p.Lys55Glu	rs750068317	missense variant	-	NC_000005.10:g.80649468T>C	ExAC,gnomAD
DHFR	P00374	p.Lys56Thr	rs1161850054	missense variant	-	NC_000005.10:g.80649464T>G	TOPMed
DHFR	P00374	p.Ser60Cys	rs371161421	missense variant	-	NC_000005.10:g.80649452G>C	ESP,ExAC,gnomAD
DHFR	P00374	p.Ser60Phe	rs371161421	missense variant	-	NC_000005.10:g.80649452G>A	ESP,ExAC,gnomAD
DHFR	P00374	p.Ile61Val	rs1322225765	missense variant	-	NC_000005.10:g.80649450T>C	gnomAD
DHFR	P00374	p.Glu63Lys	rs200232379	missense variant	-	NC_000005.10:g.80649444C>T	ESP,ExAC,TOPMed,gnomAD
DHFR	P00374	p.Glu63Gln	rs200232379	missense variant	-	NC_000005.10:g.80649444C>G	ESP,ExAC,TOPMed,gnomAD
DHFR	P00374	p.Glu63Gly	rs762790419	missense variant	-	NC_000005.10:g.80649443T>C	ExAC,gnomAD
DHFR	P00374	p.Asn65Thr	rs1464614335	missense variant	-	NC_000005.10:g.80649437T>G	gnomAD
DHFR	P00374	p.Arg66Leu	rs752733264	missense variant	-	NC_000005.10:g.80649434C>A	ExAC,gnomAD
DHFR	P00374	p.Arg66Ter	rs1421050089	stop gained	-	NC_000005.10:g.80649435G>A	TOPMed,gnomAD
DHFR	P00374	p.Arg66Gln	rs752733264	missense variant	-	NC_000005.10:g.80649434C>T	ExAC,gnomAD
DHFR	P00374	p.Leu68Ter	rs1480679070	stop gained	-	NC_000005.10:g.80649428A>C	TOPMed,gnomAD
DHFR	P00374	p.Gly70Val	rs766341761	missense variant	-	NC_000005.10:g.80649422C>A	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Gly70Asp	rs766341761	missense variant	-	NC_000005.10:g.80649422C>T	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Arg71Thr	rs1435266382	missense variant	-	NC_000005.10:g.80649419C>G	gnomAD
DHFR	P00374	p.Asn73SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.80649409_80649413TAAAT>-	NCI-TCGA
DHFR	P00374	p.Asn73Ile	rs773305047	missense variant	-	NC_000005.10:g.80649413T>A	ExAC,gnomAD
DHFR	P00374	p.Asn73His	rs760708940	missense variant	-	NC_000005.10:g.80649414T>G	ExAC,gnomAD
DHFR	P00374	p.Leu74Val	rs1355100511	missense variant	-	NC_000005.10:g.80649411A>C	TOPMed
DHFR	P00374	p.Leu76Ile	rs1456478807	missense variant	-	NC_000005.10:g.80649405G>T	gnomAD
DHFR	P00374	p.Leu76Pro	rs969810454	missense variant	-	NC_000005.10:g.80649404A>G	TOPMed,gnomAD
DHFR	P00374	p.Arg78Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80649398C>T	NCI-TCGA
DHFR	P00374	p.Glu79Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80649395T>C	NCI-TCGA
DHFR	P00374	p.Glu79Lys	rs1023990945	missense variant	-	NC_000005.10:g.80649396C>T	TOPMed
DHFR	P00374	p.Glu79Ter	COSM1438884	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.80649396C>A	NCI-TCGA Cosmic
DHFR	P00374	p.Leu80Phe	RCV000022524	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency	NC_000005.10:g.80649393G>A	ClinVar
DHFR	P00374	p.Leu80Phe	rs387906619	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)	NC_000005.10:g.80649393G>A	UniProt,dbSNP
DHFR	P00374	p.Leu80Phe	VAR_065818	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)	NC_000005.10:g.80649393G>A	UniProt
DHFR	P00374	p.Leu80Phe	rs387906619	missense variant	-	NC_000005.10:g.80649393G>A	ExAC,gnomAD
DHFR	P00374	p.Lys81Arg	rs540527930	missense variant	-	NC_000005.10:g.80649389T>C	TOPMed,gnomAD
DHFR	P00374	p.Lys81Glu	rs774576661	missense variant	-	NC_000005.10:g.80649390T>C	ExAC,gnomAD
DHFR	P00374	p.Gly86Glu	rs750437833	missense variant	-	NC_000005.10:g.80637995C>T	ExAC,gnomAD
DHFR	P00374	p.Ala87Gly	rs1000980239	missense variant	-	NC_000005.10:g.80637992G>C	TOPMed
DHFR	P00374	p.Ala87Val	rs1000980239	missense variant	-	NC_000005.10:g.80637992G>A	TOPMed
DHFR	P00374	p.His88Arg	rs767651918	missense variant	-	NC_000005.10:g.80637989T>C	ExAC,gnomAD
DHFR	P00374	p.Leu90Ile	rs1238594552	missense variant	-	NC_000005.10:g.80637984G>T	TOPMed,gnomAD
DHFR	P00374	p.Ser91Phe	rs774682803	missense variant	-	NC_000005.10:g.80637980G>A	ExAC,gnomAD
DHFR	P00374	p.Arg92Gly	rs764333131	missense variant	-	NC_000005.10:g.80637978T>C	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Asp95His	rs781727821	missense variant	-	NC_000005.10:g.80637969C>G	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Thr101Ile	rs942272996	missense variant	-	NC_000005.10:g.80637950G>A	gnomAD
DHFR	P00374	p.Pro104Ala	rs1045276866	missense variant	-	NC_000005.10:g.80637942G>C	TOPMed
DHFR	P00374	p.Glu105Asp	rs201584784	missense variant	-	NC_000005.10:g.80637937T>A	1000Genomes,ExAC,gnomAD
DHFR	P00374	p.Leu106Ile	rs770618811	missense variant	-	NC_000005.10:g.80637936A>T	ExAC,gnomAD
DHFR	P00374	p.Asp111Gly	rs777444850	missense variant	-	NC_000005.10:g.80637920T>C	ExAC,gnomAD
DHFR	P00374	p.Val113Phe	rs1214007828	missense variant	-	NC_000005.10:g.80637915C>A	TOPMed
DHFR	P00374	p.Val116Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80637905A>C	NCI-TCGA
DHFR	P00374	p.Ser119Arg	rs1262938206	missense variant	-	NC_000005.10:g.80637897T>G	gnomAD
DHFR	P00374	p.Ser119Arg	rs1214817753	missense variant	-	NC_000005.10:g.80637895A>T	gnomAD
DHFR	P00374	p.Ser120Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80637894A>G	NCI-TCGA
DHFR	P00374	p.Ser120Tyr	COSM1070683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.80637893G>T	NCI-TCGA Cosmic
DHFR	P00374	p.Val121Ala	rs747921931	missense variant	-	NC_000005.10:g.80637890A>G	ExAC,gnomAD
DHFR	P00374	p.Tyr122Phe	rs1293072146	missense variant	-	NC_000005.10:g.80637887T>A	gnomAD
DHFR	P00374	p.Ala125Thr	rs1228153803	missense variant	-	NC_000005.10:g.80633989C>T	TOPMed
DHFR	P00374	p.Met126Ile	rs1287152741	missense variant	-	NC_000005.10:g.80633984C>T	gnomAD
DHFR	P00374	p.His128Gln	rs1266838564	missense variant	-	NC_000005.10:g.80633978G>C	TOPMed
DHFR	P00374	p.Pro129Gln	rs772613889	missense variant	-	NC_000005.10:g.80633976G>T	ExAC,gnomAD
DHFR	P00374	p.Pro129Leu	rs772613889	missense variant	-	NC_000005.10:g.80633976G>A	ExAC,gnomAD
DHFR	P00374	p.Pro129Ala	rs760187947	missense variant	-	NC_000005.10:g.80633977G>C	ExAC,TOPMed,gnomAD
DHFR	P00374	p.His131Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80633971G>A	NCI-TCGA
DHFR	P00374	p.His131Arg	rs1277129985	missense variant	-	NC_000005.10:g.80633970T>C	gnomAD
DHFR	P00374	p.Leu132Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80633967A>C	NCI-TCGA
DHFR	P00374	p.Leu132Phe	rs972884214	missense variant	-	NC_000005.10:g.80633968G>A	TOPMed
DHFR	P00374	p.Leu134Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80633962G>T	NCI-TCGA
DHFR	P00374	p.Leu134Pro	COSM4405036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.80633961A>G	NCI-TCGA Cosmic
DHFR	P00374	p.Thr137Ala	rs747824863	missense variant	-	NC_000005.10:g.80633953T>C	ExAC,gnomAD
DHFR	P00374	p.Met140Leu	rs141831067	missense variant	-	NC_000005.10:g.80633944T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHFR	P00374	p.Asp142Glu	rs1331010891	missense variant	-	NC_000005.10:g.80633936G>C	TOPMed,gnomAD
DHFR	P00374	p.Asp146Gly	rs1466161664	missense variant	-	NC_000005.10:g.80633925T>C	gnomAD
DHFR	P00374	p.Thr147Met	rs768490218	missense variant	-	NC_000005.10:g.80633922G>A	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Phe148Leu	rs1481660079	missense variant	-	NC_000005.10:g.80633918A>C	gnomAD
DHFR	P00374	p.Pro150Ala	rs954427933	missense variant	-	NC_000005.10:g.80633914G>C	TOPMed,gnomAD
DHFR	P00374	p.Asp153Val	RCV000022525	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency	NC_000005.10:g.80633904T>A	ClinVar
DHFR	P00374	p.Asp153Tyr	rs1190920458	missense variant	-	NC_000005.10:g.80633905C>A	TOPMed,gnomAD
DHFR	P00374	p.Asp153His	rs1190920458	missense variant	-	NC_000005.10:g.80633905C>G	TOPMed,gnomAD
DHFR	P00374	p.Asp153Val	rs121913223	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)	NC_000005.10:g.80633904T>A	UniProt,dbSNP
DHFR	P00374	p.Asp153Val	VAR_065819	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)	NC_000005.10:g.80633904T>A	UniProt
DHFR	P00374	p.Asp153Val	rs121913223	missense variant	-	NC_000005.10:g.80633904T>A	gnomAD
DHFR	P00374	p.Lys156Glu	rs1235066479	missense variant	-	NC_000005.10:g.80633896T>C	gnomAD
DHFR	P00374	p.Tyr157Ter	rs756026129	stop gained	-	NC_000005.10:g.80633891A>C	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Pro161Ser	rs371824049	missense variant	-	NC_000005.10:g.80633881G>A	ESP,ExAC,gnomAD
DHFR	P00374	p.Tyr163Cys	rs1240762913	missense variant	-	NC_000005.10:g.80629163T>C	gnomAD
DHFR	P00374	p.Leu167Ile	COSM1070681	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.80629152G>T	NCI-TCGA Cosmic
DHFR	P00374	p.Asp169Asn	rs1352816111	missense variant	-	NC_000005.10:g.80629146C>T	gnomAD
DHFR	P00374	p.Gln171Arg	rs1445173661	missense variant	-	NC_000005.10:g.80629139T>C	TOPMed
DHFR	P00374	p.Glu173Lys	rs1307188069	missense variant	-	NC_000005.10:g.80629134C>T	gnomAD
DHFR	P00374	p.Gly175Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80629127C>T	NCI-TCGA
DHFR	P00374	p.Ile176Val	rs1454614314	missense variant	-	NC_000005.10:g.80629125T>C	gnomAD
DHFR	P00374	p.Lys179Asn	rs1223136219	missense variant	-	NC_000005.10:g.80629114T>G	TOPMed
DHFR	P00374	p.Phe180Cys	rs768327109	missense variant	-	NC_000005.10:g.80629112A>C	ExAC
DHFR	P00374	p.Glu184Ter	rs1477523853	stop gained	-	NC_000005.10:g.80629101C>A	TOPMed
DHFR	P00374	p.Glu184Val	rs1191351549	missense variant	-	NC_000005.10:g.80629100T>A	TOPMed
DHFR	P00374	p.Asn186Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.80629094T>C	NCI-TCGA
DHFR	P00374	p.Asp187Tyr	rs200904105	missense variant	-	NC_000005.10:g.80629092C>A	gnomAD
DHFR	P00374	p.Val2Phe	rs1245883641	missense variant	-	NC_000005.10:g.80654486C>A	gnomAD
DHFR	P00374	p.Gly3Ala	rs1381483540	missense variant	-	NC_000005.10:g.80654482C>G	gnomAD
DHFR	P00374	p.Ser4Ala	rs1281942097	missense variant	-	NC_000005.10:g.80654480A>C	TOPMed,gnomAD
DHFR	P00374	p.Ser4Ter	rs199586723	stop gained	-	NC_000005.10:g.80654479G>T	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Ser4Leu	rs199586723	missense variant	-	NC_000005.10:g.80654479G>A	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Leu5Ile	rs780338583	missense variant	-	NC_000005.10:g.80654477G>T	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Asn6Lys	rs756401520	missense variant	-	NC_000005.10:g.80654472G>C	ExAC,gnomAD
DHFR	P00374	p.Cys7Phe	rs746083870	missense variant	-	NC_000005.10:g.80654470C>A	ExAC,gnomAD
DHFR	P00374	p.Ala10Ser	rs781563390	missense variant	-	NC_000005.10:g.80654462C>A	ExAC,gnomAD
DHFR	P00374	p.Gln13Leu	rs1197644951	missense variant	-	NC_000005.10:g.80654452T>A	gnomAD
DHFR	P00374	p.Gly18Arg	rs61736208	missense variant	-	NC_000005.10:g.80654438C>G	ExAC,gnomAD
DHFR	P00374	p.Gly18Ser	rs61736208	missense variant	-	NC_000005.10:g.80654438C>T	ExAC,gnomAD
DHFR	P00374	p.Asn20Lys	rs1490962892	missense variant	-	NC_000005.10:g.80654430G>T	gnomAD
DHFR	P00374	p.Asp22Val	rs758957010	missense variant	-	NC_000005.10:g.80654425T>A	ExAC,gnomAD
DHFR	P00374	p.Leu23Pro	rs1364132118	missense variant	-	NC_000005.10:g.80654422A>G	TOPMed
DHFR	P00374	p.Arg29Gly	rs1215835047	missense variant	-	NC_000005.10:g.80654405T>C	gnomAD
DHFR	P00374	p.Arg29Lys	rs1339446031	missense variant	-	NC_000005.10:g.80654404C>T	TOPMed,gnomAD
DHFR	P00374	p.Asn30Thr	rs765924078	missense variant	-	NC_000005.10:g.80654055T>G	ExAC
DHFR	P00374	p.Asn30Lys	RCV000286239	missense variant	-	NC_000005.10:g.80654054A>C	ClinVar
DHFR	P00374	p.Asn30Lys	rs201745474	missense variant	-	NC_000005.10:g.80654054A>C	ESP,ExAC,TOPMed,gnomAD
DHFR	P00374	p.Tyr34Cys	rs1197915916	missense variant	-	NC_000005.10:g.80654043T>C	TOPMed
DHFR	P00374	p.Gln36Glu	rs767425256	missense variant	-	NC_000005.10:g.80654038G>C	ExAC,gnomAD
DHFR	P00374	p.Arg37Lys	rs1414898962	missense variant	-	NC_000005.10:g.80654034C>T	TOPMed
DHFR	P00374	p.Thr40Ile	rs761785469	missense variant	-	NC_000005.10:g.80654025G>A	ExAC,gnomAD
DHFR	P00374	p.Thr41Ile	rs1473186463	missense variant	-	NC_000005.10:g.80654022G>A	TOPMed
DHFR	P00374	p.Val44Ile	rs1382860073	missense variant	-	NC_000005.10:g.80654014C>T	TOPMed
DHFR	P00374	p.Glu45Lys	rs1032250222	missense variant	-	NC_000005.10:g.80654011C>T	TOPMed
DHFR	P00374	p.Glu45Ter	RCV000480515	frameshift	-	NC_000005.10:g.80654011del	ClinVar
DHFR	P00374	p.Asn49Lys	rs1251977833	missense variant	-	NC_000005.10:g.80649484A>C	gnomAD
DHFR	P00374	p.Leu50Gln	rs1301676659	missense variant	-	NC_000005.10:g.80649482A>T	gnomAD
DHFR	P00374	p.Ile52Thr	rs1213637006	missense variant	-	NC_000005.10:g.80649476A>G	gnomAD
DHFR	P00374	p.Met53Arg	rs755733770	missense variant	-	NC_000005.10:g.80649473A>C	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Met53Thr	rs755733770	missense variant	-	NC_000005.10:g.80649473A>G	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Gly54Asp	rs1285372695	missense variant	-	NC_000005.10:g.80649470C>T	gnomAD
DHFR	P00374	p.Gly54Cys	rs1474639123	missense variant	-	NC_000005.10:g.80649471C>A	TOPMed
DHFR	P00374	p.Lys55Glu	rs750068317	missense variant	-	NC_000005.10:g.80649468T>C	ExAC,gnomAD
DHFR	P00374	p.Lys56Thr	rs1161850054	missense variant	-	NC_000005.10:g.80649464T>G	TOPMed
DHFR	P00374	p.Ser60Phe	rs371161421	missense variant	-	NC_000005.10:g.80649452G>A	ESP,ExAC,gnomAD
DHFR	P00374	p.Ser60Cys	rs371161421	missense variant	-	NC_000005.10:g.80649452G>C	ESP,ExAC,gnomAD
DHFR	P00374	p.Ile61Val	rs1322225765	missense variant	-	NC_000005.10:g.80649450T>C	gnomAD
DHFR	P00374	p.Glu63Gly	rs762790419	missense variant	-	NC_000005.10:g.80649443T>C	ExAC,gnomAD
DHFR	P00374	p.Glu63Lys	rs200232379	missense variant	-	NC_000005.10:g.80649444C>T	ESP,ExAC,TOPMed,gnomAD
DHFR	P00374	p.Glu63Gln	rs200232379	missense variant	-	NC_000005.10:g.80649444C>G	ESP,ExAC,TOPMed,gnomAD
DHFR	P00374	p.Asn65Thr	rs1464614335	missense variant	-	NC_000005.10:g.80649437T>G	gnomAD
DHFR	P00374	p.Arg66Gln	rs752733264	missense variant	-	NC_000005.10:g.80649434C>T	ExAC,gnomAD
DHFR	P00374	p.Arg66Ter	rs1421050089	stop gained	-	NC_000005.10:g.80649435G>A	TOPMed,gnomAD
DHFR	P00374	p.Arg66Leu	rs752733264	missense variant	-	NC_000005.10:g.80649434C>A	ExAC,gnomAD
DHFR	P00374	p.Leu68Ter	rs1480679070	stop gained	-	NC_000005.10:g.80649428A>C	TOPMed,gnomAD
DHFR	P00374	p.Gly70Val	rs766341761	missense variant	-	NC_000005.10:g.80649422C>A	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Gly70Asp	rs766341761	missense variant	-	NC_000005.10:g.80649422C>T	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Arg71Thr	rs1435266382	missense variant	-	NC_000005.10:g.80649419C>G	gnomAD
DHFR	P00374	p.Asn73His	rs760708940	missense variant	-	NC_000005.10:g.80649414T>G	ExAC,gnomAD
DHFR	P00374	p.Asn73Ile	rs773305047	missense variant	-	NC_000005.10:g.80649413T>A	ExAC,gnomAD
DHFR	P00374	p.Leu74Val	rs1355100511	missense variant	-	NC_000005.10:g.80649411A>C	TOPMed
DHFR	P00374	p.Leu76Pro	rs969810454	missense variant	-	NC_000005.10:g.80649404A>G	TOPMed,gnomAD
DHFR	P00374	p.Leu76Ile	rs1456478807	missense variant	-	NC_000005.10:g.80649405G>T	gnomAD
DHFR	P00374	p.Glu79Lys	rs1023990945	missense variant	-	NC_000005.10:g.80649396C>T	TOPMed
DHFR	P00374	p.Leu80Phe	rs387906619	missense variant	-	NC_000005.10:g.80649393G>A	ExAC,gnomAD
DHFR	P00374	p.Leu80Phe	rs387906619	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)	NC_000005.10:g.80649393G>A	UniProt,dbSNP
DHFR	P00374	p.Leu80Phe	VAR_065818	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)	NC_000005.10:g.80649393G>A	UniProt
DHFR	P00374	p.Leu80Phe	RCV000022524	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency	NC_000005.10:g.80649393G>A	ClinVar
DHFR	P00374	p.Lys81Glu	rs774576661	missense variant	-	NC_000005.10:g.80649390T>C	ExAC,gnomAD
DHFR	P00374	p.Lys81Arg	rs540527930	missense variant	-	NC_000005.10:g.80649389T>C	TOPMed,gnomAD
DHFR	P00374	p.Gly86Glu	rs750437833	missense variant	-	NC_000005.10:g.80637995C>T	ExAC,gnomAD
DHFR	P00374	p.Ala87Gly	rs1000980239	missense variant	-	NC_000005.10:g.80637992G>C	TOPMed
DHFR	P00374	p.Ala87Val	rs1000980239	missense variant	-	NC_000005.10:g.80637992G>A	TOPMed
DHFR	P00374	p.His88Arg	rs767651918	missense variant	-	NC_000005.10:g.80637989T>C	ExAC,gnomAD
DHFR	P00374	p.Leu90Ile	rs1238594552	missense variant	-	NC_000005.10:g.80637984G>T	TOPMed,gnomAD
DHFR	P00374	p.Ser91Phe	rs774682803	missense variant	-	NC_000005.10:g.80637980G>A	ExAC,gnomAD
DHFR	P00374	p.Arg92Gly	rs764333131	missense variant	-	NC_000005.10:g.80637978T>C	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Asp95His	rs781727821	missense variant	-	NC_000005.10:g.80637969C>G	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Thr101Ile	rs942272996	missense variant	-	NC_000005.10:g.80637950G>A	gnomAD
DHFR	P00374	p.Pro104Ala	rs1045276866	missense variant	-	NC_000005.10:g.80637942G>C	TOPMed
DHFR	P00374	p.Glu105Asp	rs201584784	missense variant	-	NC_000005.10:g.80637937T>A	1000Genomes,ExAC,gnomAD
DHFR	P00374	p.Leu106Ile	rs770618811	missense variant	-	NC_000005.10:g.80637936A>T	ExAC,gnomAD
DHFR	P00374	p.Asp111Gly	rs777444850	missense variant	-	NC_000005.10:g.80637920T>C	ExAC,gnomAD
DHFR	P00374	p.Val113Phe	rs1214007828	missense variant	-	NC_000005.10:g.80637915C>A	TOPMed
DHFR	P00374	p.Ser119Arg	rs1262938206	missense variant	-	NC_000005.10:g.80637897T>G	gnomAD
DHFR	P00374	p.Ser119Arg	rs1214817753	missense variant	-	NC_000005.10:g.80637895A>T	gnomAD
DHFR	P00374	p.Val121Ala	rs747921931	missense variant	-	NC_000005.10:g.80637890A>G	ExAC,gnomAD
DHFR	P00374	p.Tyr122Phe	rs1293072146	missense variant	-	NC_000005.10:g.80637887T>A	gnomAD
DHFR	P00374	p.Ala125Thr	rs1228153803	missense variant	-	NC_000005.10:g.80633989C>T	TOPMed
DHFR	P00374	p.Met126Ile	rs1287152741	missense variant	-	NC_000005.10:g.80633984C>T	gnomAD
DHFR	P00374	p.His128Gln	rs1266838564	missense variant	-	NC_000005.10:g.80633978G>C	TOPMed
DHFR	P00374	p.Pro129Gln	rs772613889	missense variant	-	NC_000005.10:g.80633976G>T	ExAC,gnomAD
DHFR	P00374	p.Pro129Leu	rs772613889	missense variant	-	NC_000005.10:g.80633976G>A	ExAC,gnomAD
DHFR	P00374	p.Pro129Ala	rs760187947	missense variant	-	NC_000005.10:g.80633977G>C	ExAC,TOPMed,gnomAD
DHFR	P00374	p.His131Arg	rs1277129985	missense variant	-	NC_000005.10:g.80633970T>C	gnomAD
DHFR	P00374	p.Leu132Phe	rs972884214	missense variant	-	NC_000005.10:g.80633968G>A	TOPMed
DHFR	P00374	p.Thr137Ala	rs747824863	missense variant	-	NC_000005.10:g.80633953T>C	ExAC,gnomAD
DHFR	P00374	p.Met140Leu	rs141831067	missense variant	-	NC_000005.10:g.80633944T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHFR	P00374	p.Asp142Glu	rs1331010891	missense variant	-	NC_000005.10:g.80633936G>C	TOPMed,gnomAD
DHFR	P00374	p.Asp146Gly	rs1466161664	missense variant	-	NC_000005.10:g.80633925T>C	gnomAD
DHFR	P00374	p.Thr147Met	rs768490218	missense variant	-	NC_000005.10:g.80633922G>A	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Phe148Leu	rs1481660079	missense variant	-	NC_000005.10:g.80633918A>C	gnomAD
DHFR	P00374	p.Pro150Ala	rs954427933	missense variant	-	NC_000005.10:g.80633914G>C	TOPMed,gnomAD
DHFR	P00374	p.Asp153His	rs1190920458	missense variant	-	NC_000005.10:g.80633905C>G	TOPMed,gnomAD
DHFR	P00374	p.Asp153Val	rs121913223	missense variant	-	NC_000005.10:g.80633904T>A	gnomAD
DHFR	P00374	p.Asp153Val	rs121913223	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)	NC_000005.10:g.80633904T>A	UniProt,dbSNP
DHFR	P00374	p.Asp153Val	VAR_065819	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD)	NC_000005.10:g.80633904T>A	UniProt
DHFR	P00374	p.Asp153Tyr	rs1190920458	missense variant	-	NC_000005.10:g.80633905C>A	TOPMed,gnomAD
DHFR	P00374	p.Asp153Val	RCV000022525	missense variant	Megaloblastic anemia due to dihydrofolate reductase deficiency	NC_000005.10:g.80633904T>A	ClinVar
DHFR	P00374	p.Lys156Glu	rs1235066479	missense variant	-	NC_000005.10:g.80633896T>C	gnomAD
DHFR	P00374	p.Tyr157Ter	rs756026129	stop gained	-	NC_000005.10:g.80633891A>C	ExAC,TOPMed,gnomAD
DHFR	P00374	p.Pro161Ser	rs371824049	missense variant	-	NC_000005.10:g.80633881G>A	ESP,ExAC,gnomAD
DHFR	P00374	p.Tyr163Cys	rs1240762913	missense variant	-	NC_000005.10:g.80629163T>C	gnomAD
DHFR	P00374	p.Asp169Asn	rs1352816111	missense variant	-	NC_000005.10:g.80629146C>T	gnomAD
DHFR	P00374	p.Gln171Arg	rs1445173661	missense variant	-	NC_000005.10:g.80629139T>C	TOPMed
DHFR	P00374	p.Glu173Lys	rs1307188069	missense variant	-	NC_000005.10:g.80629134C>T	gnomAD
DHFR	P00374	p.Ile176Val	rs1454614314	missense variant	-	NC_000005.10:g.80629125T>C	gnomAD
DHFR	P00374	p.Lys179Asn	rs1223136219	missense variant	-	NC_000005.10:g.80629114T>G	TOPMed
DHFR	P00374	p.Phe180Cys	rs768327109	missense variant	-	NC_000005.10:g.80629112A>C	ExAC
DHFR	P00374	p.Glu184Ter	rs1477523853	stop gained	-	NC_000005.10:g.80629101C>A	TOPMed
DHFR	P00374	p.Glu184Val	rs1191351549	missense variant	-	NC_000005.10:g.80629100T>A	TOPMed
DHFR	P00374	p.Asp187Tyr	rs200904105	missense variant	-	NC_000005.10:g.80629092C>A	gnomAD
PAH	P00439	p.Met1Leu	RCV000088869	missense variant	-	NC_000012.12:g.102917130T>A	ClinVar
PAH	P00439	p.Met1Thr	RCV000186076	missense variant	-	NC_000012.12:g.102917129A>G	ClinVar
PAH	P00439	p.Met1Arg	RCV000088893	missense variant	-	NC_000012.12:g.102917129A>C	ClinVar
PAH	P00439	p.Met1Val	RCV000000616	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102917130T>C	ClinVar
PAH	P00439	p.Met1Val	RCV000088868	missense variant	-	NC_000012.12:g.102917130T>C	ClinVar
PAH	P00439	p.Met1Ile	RCV000088911	missense variant	-	NC_000012.12:g.102917128C>T	ClinVar
PAH	P00439	p.Met1Val	RCV000000617	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102917130T>C	ClinVar
PAH	P00439	p.Met1Ile	RCV000000653	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102917128C>T	ClinVar
PAH	P00439	p.Thr3Ile	rs1451895979	missense variant	-	NC_000012.12:g.102917123G>A	TOPMed
PAH	P00439	p.Ala4Val	rs765022724	missense variant	-	NC_000012.12:g.102917120G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala4Thr	rs1223872589	missense variant	-	NC_000012.12:g.102917121C>T	gnomAD
PAH	P00439	p.Glu7Gln	rs753312947	missense variant	-	NC_000012.12:g.102917112C>G	ExAC
PAH	P00439	p.Asn8Asp	rs763623193	missense variant	-	NC_000012.12:g.102917109T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Pro9Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102917105G>T	NCI-TCGA
PAH	P00439	p.Gly10Ser	COSM1358239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102917103C>T	NCI-TCGA Cosmic
PAH	P00439	p.Gly10Cys	COSM6135540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102917103C>A	NCI-TCGA Cosmic
PAH	P00439	p.Gly10Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102917102C>A	NCI-TCGA
PAH	P00439	p.Leu11Ser	rs1346707834	missense variant	-	NC_000012.12:g.102917099A>G	gnomAD
PAH	P00439	p.Gly12Ser	rs1433712720	missense variant	-	NC_000012.12:g.102917097C>T	TOPMed,gnomAD
PAH	P00439	p.Lys14Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102917090T>C	NCI-TCGA
PAH	P00439	p.Leu15Ter	RCV000088944	nonsense	-	NC_000012.12:g.102917083_102917084AG[2]	ClinVar
PAH	P00439	p.Leu15Ter	RCV000153638	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102917083_102917084AG[2]	ClinVar
PAH	P00439	p.Leu15Pro	rs1319374413	missense variant	-	NC_000012.12:g.102917087A>G	TOPMed
PAH	P00439	p.Ser16Pro	RCV000088937	missense variant	-	NC_000012.12:g.102917085A>G	ClinVar
PAH	P00439	p.Ser16Pro	rs62642946	missense variant	-	NC_000012.12:g.102917085A>G	-
PAH	P00439	p.Ser16Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102917084G>A	NCI-TCGA
PAH	P00439	p.Asp17Glu	rs150366430	missense variant	-	NC_000012.12:g.102917080G>C	ESP,ExAC,gnomAD
PAH	P00439	p.Gly19Arg	rs771104344	missense variant	-	NC_000012.12:g.102917076C>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Gln20Ter	RCV000169450	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102917073G>A	ClinVar
PAH	P00439	p.Gln20His	RCV000089006	missense variant	-	NC_000012.12:g.102917071C>G	ClinVar
PAH	P00439	p.Gln20Leu	RCV000088998	missense variant	-	NC_000012.12:g.102917072T>A	ClinVar
PAH	P00439	p.Gln20Leu	rs199475662	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102917072T>A	UniProt,dbSNP
PAH	P00439	p.Gln20Leu	VAR_009239	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102917072T>A	UniProt
PAH	P00439	p.Gln20Leu	rs199475662	missense variant	-	NC_000012.12:g.102917072T>A	-
PAH	P00439	p.Gln20His	rs199475688	missense variant	-	NC_000012.12:g.102917071C>G	-
PAH	P00439	p.Glu21Asp	rs753466976	missense variant	-	NC_000012.12:g.102912896T>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Thr22Lys	RCV000664768	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912894G>T	ClinVar
PAH	P00439	p.Thr22Lys	rs199565868	missense variant	-	NC_000012.12:g.102912894G>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Thr22Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102912895T>C	NCI-TCGA
PAH	P00439	p.Ser23Ile	COSM4038092	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102912891C>A	NCI-TCGA Cosmic
PAH	P00439	p.Tyr24Cys	RCV000529284	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912888T>C	ClinVar
PAH	P00439	p.Tyr24Cys	rs539994406	missense variant	-	NC_000012.12:g.102912888T>C	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr24Phe	rs539994406	missense variant	-	NC_000012.12:g.102912888T>A	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile25Thr	rs1355039694	missense variant	-	NC_000012.12:g.102912885A>G	TOPMed,gnomAD
PAH	P00439	p.Asn30His	rs936213897	missense variant	-	NC_000012.12:g.102912871T>G	TOPMed
PAH	P00439	p.Asn30Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102912870T>G	NCI-TCGA
PAH	P00439	p.Ile35Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102912854T>C	NCI-TCGA
PAH	P00439	p.Ser36Leu	rs760011862	missense variant	-	NC_000012.12:g.102912852G>A	ExAC,gnomAD
PAH	P00439	p.Leu37Pro	RCV000210792	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912849A>G	ClinVar
PAH	P00439	p.Leu37Pro	rs869312996	missense variant	-	NC_000012.12:g.102912849A>G	-
PAH	P00439	p.Ile38Ter	RCV000088764	frameshift	-	NC_000012.12:g.102912848dup	ClinVar
PAH	P00439	p.Phe39Leu	RCV000078504	missense variant	-	NC_000012.12:g.102912842G>C	ClinVar
PAH	P00439	p.Phe39Leu	RCV000000636	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912842G>C	ClinVar
PAH	P00439	p.Phe39Leu	rs62642926	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102912842G>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Phe39Leu	rs62642926	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912842G>C	UniProt,dbSNP
PAH	P00439	p.Phe39Leu	VAR_000870	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912842G>C	UniProt
PAH	P00439	p.Phe39del	VAR_000871	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Ser40Leu	RCV000088797	missense variant	-	NC_000012.12:g.102912840G>A	ClinVar
PAH	P00439	p.Ser40Leu	rs62642938	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912840G>A	UniProt,dbSNP
PAH	P00439	p.Ser40Leu	VAR_000872	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912840G>A	UniProt
PAH	P00439	p.Ser40Leu	rs62642938	missense variant	-	NC_000012.12:g.102912840G>A	-
PAH	P00439	p.Leu41Pro	rs62642916	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912837A>G	UniProt,dbSNP
PAH	P00439	p.Leu41Pro	VAR_009240	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912837A>G	UniProt
PAH	P00439	p.Leu41Pro	rs62642916	missense variant	-	NC_000012.12:g.102912837A>G	-
PAH	P00439	p.Leu41Pro	RCV000088809	missense variant	-	NC_000012.12:g.102912837A>G	ClinVar
PAH	P00439	p.Leu41Phe	RCV000697659	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912838G>A	ClinVar
PAH	P00439	p.Leu41Phe	rs62642928	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912838G>A	UniProt,dbSNP
PAH	P00439	p.Leu41Phe	VAR_000873	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912838G>A	UniProt
PAH	P00439	p.Lys42Arg	rs62635346	missense variant	-	NC_000012.12:g.102912834T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Lys42Ile	rs62635346	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912834T>A	UniProt,dbSNP
PAH	P00439	p.Lys42Ile	VAR_000874	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912834T>A	UniProt
PAH	P00439	p.Lys42Ile	rs62635346	missense variant	-	NC_000012.12:g.102912834T>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Lys42Ile	RCV000088819	missense variant	-	NC_000012.12:g.102912834T>A	ClinVar
PAH	P00439	p.Lys42Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102912835T>C	NCI-TCGA
PAH	P00439	p.Glu43Ter	rs1555209575	stop gained	-	NC_000012.12:g.102912832C>A	-
PAH	P00439	p.Glu43Ter	RCV000673220	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102912832C>A	ClinVar
PAH	P00439	p.Glu44Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102912829C>T	NCI-TCGA
PAH	P00439	p.Val45Asp	COSM467671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102912825A>T	NCI-TCGA Cosmic
PAH	P00439	p.Val45Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102912825A>G	NCI-TCGA
PAH	P00439	p.Val45Ala	VAR_067994	Missense	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Gly46Ter	RCV000088837	frameshift	-	NC_000012.12:g.102912823del	ClinVar
PAH	P00439	p.Gly46Ser	RCV000000661	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912823C>T	ClinVar
PAH	P00439	p.Gly46Ser	rs74603784	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102912823C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Gly46Ser	rs74603784	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912823C>T	UniProt,dbSNP
PAH	P00439	p.Gly46Ser	VAR_000875	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912823C>T	UniProt
PAH	P00439	p.Gly46Arg	RCV000758110	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912823C>G	ClinVar
PAH	P00439	p.Ala47Glu	RCV000088838	missense variant	-	NC_000012.12:g.102912819G>T	ClinVar
PAH	P00439	p.Ala47Val	rs118203925	missense variant	-	NC_000012.12:g.102912819G>A	TOPMed,gnomAD
PAH	P00439	p.Ala47Val	RCV000088839	missense variant	-	NC_000012.12:g.102912819G>A	ClinVar
PAH	P00439	p.Ala47Glu	rs118203925	missense variant	-	NC_000012.12:g.102912819G>T	TOPMed,gnomAD
PAH	P00439	p.Ala47Ser	rs1206656229	missense variant	-	NC_000012.12:g.102912820C>A	TOPMed,gnomAD
PAH	P00439	p.Leu48Ser	RCV000078511	missense variant	-	NC_000012.12:g.102912816A>G	ClinVar
PAH	P00439	p.Leu48Ser	rs5030841	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102912816A>G	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Leu48Ser	RCV000000639	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912816A>G	ClinVar
PAH	P00439	p.Lys50Glu	rs776829633	missense variant	-	NC_000012.12:g.102912811T>C	ExAC,gnomAD
PAH	P00439	p.Val51Ile	rs772159852	missense variant	-	NC_000012.12:g.102912808C>T	ExAC,gnomAD
PAH	P00439	p.Leu52Ter	RCV000106392	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102912805del	ClinVar
PAH	P00439	p.Leu52Ser	RCV000088840	missense variant	-	NC_000012.12:g.102912804A>G	ClinVar
PAH	P00439	p.Leu52Ser	rs199475630	missense variant	-	NC_000012.12:g.102912804A>G	-
PAH	P00439	p.Arg53Cys	RCV000664566	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912802G>A	ClinVar
PAH	P00439	p.Arg53His	RCV000088842	missense variant	-	NC_000012.12:g.102912801C>T	ClinVar
PAH	P00439	p.Arg53Cys	rs199475619	missense variant	-	NC_000012.12:g.102912802G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg53Ser	rs199475619	missense variant	-	NC_000012.12:g.102912802G>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg53His	rs118092776	missense variant	-	NC_000012.12:g.102912801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg53His	RCV000490373	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912801C>T	ClinVar
PAH	P00439	p.Leu54Ser	RCV000669099	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912798A>G	ClinVar
PAH	P00439	p.Leu54Ser	rs199475677	missense variant	-	NC_000012.12:g.102912798A>G	TOPMed,gnomAD
PAH	P00439	p.Leu54Phe	rs143358918	missense variant	-	NC_000012.12:g.102912797T>G	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Phe55Ter	RCV000000642	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102912796del	ClinVar
PAH	P00439	p.Phe55Ter	RCV000078513	frameshift	-	NC_000012.12:g.102912796del	ClinVar
PAH	P00439	p.Phe55Leu	RCV000150092	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912794A>C	ClinVar
PAH	P00439	p.Phe55Ser	RCV000106347	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912795A>G	ClinVar
PAH	P00439	p.Phe55Leu	rs199475598	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912794A>C	UniProt,dbSNP
PAH	P00439	p.Phe55Leu	VAR_000879	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912794A>C	UniProt
PAH	P00439	p.Phe55Leu	rs199475598	missense variant	-	NC_000012.12:g.102912794A>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Phe55Ser	rs281865438	missense variant	-	NC_000012.12:g.102912795A>G	-
PAH	P00439	p.Glu56Asp	RCV000088852	missense variant	-	NC_000012.12:g.102912791C>A	ClinVar
PAH	P00439	p.Glu56Asp	rs199475567	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912791C>A	UniProt,dbSNP
PAH	P00439	p.Glu56Asp	VAR_000880	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102912791C>A	UniProt
PAH	P00439	p.Glu57Lys	RCV000721179	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894918C>T	ClinVar
PAH	P00439	p.Glu57Ter	RCV000106349	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102894918C>A	ClinVar
PAH	P00439	p.Glu57Ter	rs140945592	stop gained	-	NC_000012.12:g.102894918C>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Glu57Lys	rs140945592	missense variant	-	NC_000012.12:g.102894918C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Asp59Val	RCV000758107	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894911T>A	ClinVar
PAH	P00439	p.Asp59Tyr	RCV000088857	missense variant	-	NC_000012.12:g.102894912C>A	ClinVar
PAH	P00439	p.Asp59Gly	RCV000088858	missense variant	-	NC_000012.12:g.102894911T>C	ClinVar
PAH	P00439	p.Asp59Gly	rs199475672	missense variant	-	NC_000012.12:g.102894911T>C	-
PAH	P00439	p.Asp59Tyr	rs199475635	missense variant	-	NC_000012.12:g.102894912C>A	-
PAH	P00439	p.Val60Ala	rs1398246301	missense variant	-	NC_000012.12:g.102894908A>G	gnomAD
PAH	P00439	p.Asn61Lys	RCV000106350	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894904G>T	ClinVar
PAH	P00439	p.Asn61Asp	RCV000088859	missense variant	-	NC_000012.12:g.102894906T>C	ClinVar
PAH	P00439	p.Asn61Lys	RCV000088860	missense variant	-	NC_000012.12:g.102894904G>C	ClinVar
PAH	P00439	p.Asn61Asp	rs199475651	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894906T>C	UniProt,dbSNP
PAH	P00439	p.Asn61Asp	VAR_067995	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894906T>C	UniProt
PAH	P00439	p.Asn61Asp	rs199475651	missense variant	-	NC_000012.12:g.102894906T>C	-
PAH	P00439	p.Asn61Lys	rs199475634	missense variant	-	NC_000012.12:g.102894904G>T	ExAC,gnomAD
PAH	P00439	p.Asn61Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102894905T>A	NCI-TCGA
PAH	P00439	p.Asn61Lys	rs199475634	missense variant	-	NC_000012.12:g.102894904G>C	ExAC,gnomAD
PAH	P00439	p.Leu62Val	RCV000758095	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894903G>C	ClinVar
PAH	P00439	p.Leu62Pro	VAR_067996	Missense	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Thr63Pro	RCV000758120	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894900T>G	ClinVar
PAH	P00439	p.Thr63_His64delinsProAsn	VAR_000881	deletion_insertion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.His64Asn	RCV000088862	missense variant	-	NC_000012.12:g.102894897G>T	ClinVar
PAH	P00439	p.His64Asn	rs199475569	missense variant	-	NC_000012.12:g.102894897G>T	-
PAH	P00439	p.His64Ter	RCV000088863	frameshift	-	NC_000012.12:g.102894899del	ClinVar
PAH	P00439	p.Ile65Val	RCV000803656	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894894T>C	ClinVar
PAH	P00439	p.Ile65Val	rs199475643	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894894T>C	UniProt,dbSNP
PAH	P00439	p.Ile65Val	VAR_067998	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894894T>C	UniProt
PAH	P00439	p.Ile65Val	rs199475643	missense variant	-	NC_000012.12:g.102894894T>C	ExAC,gnomAD
PAH	P00439	p.Ile65Asn	RCV000758100	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894893A>T	ClinVar
PAH	P00439	p.Ile65Thr	rs75193786	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102894893A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile65Ser	rs75193786	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102894893A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile65Ser	RCV000088866	missense variant	-	NC_000012.12:g.102894893A>C	ClinVar
PAH	P00439	p.Ile65Thr	RCV000078516	missense variant	-	NC_000012.12:g.102894893A>G	ClinVar
PAH	P00439	p.Ile65Asn	rs75193786	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102894893A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile65Thr	RCV000000668	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894893A>G	ClinVar
PAH	P00439	p.Ile65Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102894894T>G	NCI-TCGA
PAH	P00439	p.Glu66Ter	RCV000106351	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102894891C>A	ClinVar
PAH	P00439	p.Glu66Ter	rs281865454	stop gained	-	NC_000012.12:g.102894891C>A	-
PAH	P00439	p.Ser67Cys	COSM1561881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102894887G>C	NCI-TCGA Cosmic
PAH	P00439	p.Ser67Pro	rs5030842	missense variant	-	NC_000012.12:g.102894888A>G	ExAC,gnomAD
PAH	P00439	p.Ser67Pro	RCV000088867	missense variant	-	NC_000012.12:g.102894888A>G	ClinVar
PAH	P00439	p.Arg68Gly	RCV000088870	missense variant	-	NC_000012.12:g.102894885T>C	ClinVar
PAH	P00439	p.Arg68Ser	RCV000078517	missense variant	-	NC_000012.12:g.102894883T>A	ClinVar
PAH	P00439	p.Arg68Ser	rs76394784	missense variant	-	NC_000012.12:g.102894883T>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg68Ser	rs76394784	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894883T>A	UniProt,dbSNP
PAH	P00439	p.Arg68Ser	VAR_000885	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894883T>A	UniProt
PAH	P00439	p.Arg68Gly	rs199475639	missense variant	-	NC_000012.12:g.102894885T>C	-
PAH	P00439	p.Pro69Ser	RCV000088871	missense variant	-	NC_000012.12:g.102894882G>A	ClinVar
PAH	P00439	p.Pro69Ser	rs199475678	missense variant	-	NC_000012.12:g.102894882G>A	-
PAH	P00439	p.Pro69His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102894881G>T	NCI-TCGA
PAH	P00439	p.Ser70Pro	rs63048261	missense variant	-	NC_000012.12:g.102894879A>G	-
PAH	P00439	p.Ser70Pro	RCV000088874	missense variant	-	NC_000012.12:g.102894879A>G	ClinVar
PAH	P00439	p.Ser70LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.102894879_102894880insTAAGAAGAAAG	NCI-TCGA
PAH	P00439	p.Arg71Cys	rs866012140	missense variant	-	NC_000012.12:g.102894876G>A	TOPMed
PAH	P00439	p.Arg71His	RCV000672919	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894875C>T	ClinVar
PAH	P00439	p.Leu72Val	rs760782775	missense variant	-	NC_000012.12:g.102894873A>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Lys74Asn	COSM283679	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102894865T>G	NCI-TCGA Cosmic
PAH	P00439	p.Asp75Asn	rs767453024	missense variant	-	NC_000012.12:g.102894864C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Asp75Val	RCV000758113	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894863T>A	ClinVar
PAH	P00439	p.Asp75Gly	RCV000758118	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894863T>C	ClinVar
PAH	P00439	p.Glu76Ala	RCV000088877	missense variant	-	NC_000012.12:g.102894860T>G	ClinVar
PAH	P00439	p.Glu76Ter	rs762949770	stop gained	-	NC_000012.12:g.102894861C>A	ExAC,gnomAD
PAH	P00439	p.Glu76Gln	rs762949770	missense variant	-	NC_000012.12:g.102894861C>G	ExAC,gnomAD
PAH	P00439	p.Glu76Gly	RCV000672628	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894860T>C	ClinVar
PAH	P00439	p.Glu76Gly	rs62507347	missense variant	-	NC_000012.12:g.102894860T>C	-
PAH	P00439	p.Glu76Ter	RCV000590560	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102894861C>A	ClinVar
PAH	P00439	p.Tyr77Ter	RCV000088879	nonsense	-	NC_000012.12:g.102894856A>C	ClinVar
PAH	P00439	p.Tyr77Ter	rs62507332	stop gained	-	NC_000012.12:g.102894856A>C	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Glu78Asp	COSM1358238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102894853T>A	NCI-TCGA Cosmic
PAH	P00439	p.Glu78Lys	RCV000088880	missense variant	-	NC_000012.12:g.102894855C>T	ClinVar
PAH	P00439	p.Glu78Lys	rs62507326	missense variant	-	NC_000012.12:g.102894855C>T	-
PAH	P00439	p.Thr81Asn	RCV000190376	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894845G>T	ClinVar
PAH	P00439	p.Thr81Pro	rs62509017	missense variant	-	NC_000012.12:g.102894846T>G	TOPMed
PAH	P00439	p.Thr81Asn	rs796064502	missense variant	-	NC_000012.12:g.102894845G>T	-
PAH	P00439	p.Thr81Ter	RCV000088882	frameshift	-	NC_000012.12:g.102894832_102894847del	ClinVar
PAH	P00439	p.Thr81Pro	RCV000088881	missense variant	-	NC_000012.12:g.102894846T>G	ClinVar
PAH	P00439	p.His82Arg	rs1349393789	missense variant	-	NC_000012.12:g.102894842T>C	gnomAD
PAH	P00439	p.His82Asn	rs769705809	missense variant	-	NC_000012.12:g.102894843G>T	ExAC,gnomAD
PAH	P00439	p.Asp84Tyr	RCV000761308	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894837C>A	ClinVar
PAH	P00439	p.Asp84Tyr	rs62514902	missense variant	-	NC_000012.12:g.102894837C>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Asp84Tyr	rs62514902	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894837C>A	UniProt,dbSNP
PAH	P00439	p.Asp84Tyr	VAR_000887	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894837C>A	UniProt
PAH	P00439	p.Arg86Cys	rs768320548	missense variant	-	NC_000012.12:g.102894831G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg86His	rs746603180	missense variant	-	NC_000012.12:g.102894830C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ser87Arg	rs62516151	missense variant	-	NC_000012.12:g.102894826G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ser87Arg	rs62516151	missense variant	-	NC_000012.12:g.102894826G>T	UniProt,dbSNP
PAH	P00439	p.Ser87Arg	VAR_000888	missense variant	-	NC_000012.12:g.102894826G>T	UniProt
PAH	P00439	p.Ser87Asn	rs368152528	missense variant	-	NC_000012.12:g.102894827C>T	ESP,TOPMed,gnomAD
PAH	P00439	p.Ser87Arg	RCV000763293	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894826G>T	ClinVar
PAH	P00439	p.Pro89Thr	rs62507270	missense variant	-	NC_000012.12:g.102894822G>T	TOPMed,gnomAD
PAH	P00439	p.Pro89Ser	rs62507270	missense variant	-	NC_000012.12:g.102894822G>A	TOPMed,gnomAD
PAH	P00439	p.Pro89Ser	RCV000088886	missense variant	-	NC_000012.12:g.102894822G>A	ClinVar
PAH	P00439	p.Ala90Ter	RCV000088887	frameshift	-	NC_000012.12:g.102894822dup	ClinVar
PAH	P00439	p.Ala90Ter	RCV000667411	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102894822dup	ClinVar
PAH	P00439	p.Ala90Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102894819C>A	NCI-TCGA
PAH	P00439	p.Thr92Ile	RCV000088888	missense variant	-	NC_000012.12:g.102894812G>A	ClinVar
PAH	P00439	p.Thr92Ile	rs62514903	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894812G>A	UniProt,dbSNP
PAH	P00439	p.Thr92Ile	VAR_000889	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894812G>A	UniProt
PAH	P00439	p.Thr92Ile	rs62514903	missense variant	-	NC_000012.12:g.102894812G>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Asn93Asp	rs1257495145	missense variant	-	NC_000012.12:g.102894810T>C	TOPMed
PAH	P00439	p.Ile94Ser	rs62508677	missense variant	-	NC_000012.12:g.102894806A>C	TOPMed
PAH	P00439	p.Ile94Val	rs528078207	missense variant	-	NC_000012.12:g.102894807T>C	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile94Ser	RCV000673537	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894806A>C	ClinVar
PAH	P00439	p.Ile94Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102894806A>G	NCI-TCGA
PAH	P00439	p.Ile94del	VAR_000890	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Ile95Thr	RCV000106353	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894802_102894803delinsTG	ClinVar
PAH	P00439	p.Ile95Phe	rs62508682	missense variant	-	NC_000012.12:g.102894804T>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile95Thr	rs281865432	missense variant	-	NC_000012.12:g.102894802_102894803delinsTG	-
PAH	P00439	p.Ile95Phe	RCV000763292	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894804T>A	ClinVar
PAH	P00439	p.Ile97AlaPheSerTerUnk	COSM69072	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.102894791_102894798CTCAAGAT>-	NCI-TCGA Cosmic
PAH	P00439	p.Ile97Leu	RCV000664524	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894798T>G	ClinVar
PAH	P00439	p.Ile97Leu	rs142516271	missense variant	-	NC_000012.12:g.102894798T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile97Val	rs142516271	missense variant	-	NC_000012.12:g.102894798T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile97Leu	RCV000430873	missense variant	-	NC_000012.12:g.102894798T>G	ClinVar
PAH	P00439	p.Leu98Ser	rs62517167	missense variant	-	NC_000012.12:g.102894794A>G	ExAC,gnomAD
PAH	P00439	p.Leu98Ser	rs62517167	missense variant	-	NC_000012.12:g.102894794A>G	UniProt,dbSNP
PAH	P00439	p.Leu98Ser	VAR_000891	missense variant	-	NC_000012.12:g.102894794A>G	UniProt
PAH	P00439	p.Leu98Ser	RCV000088892	missense variant	-	NC_000012.12:g.102894794A>G	ClinVar
PAH	P00439	p.Arg99Thr	rs778230838	missense variant	-	NC_000012.12:g.102894791C>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.His100Arg	RCV000370322	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894788T>C	ClinVar
PAH	P00439	p.His100Arg	rs148393887	missense variant	-	NC_000012.12:g.102894788T>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Asp101Asn	rs1555207979	missense variant	-	NC_000012.12:g.102894786C>T	-
PAH	P00439	p.Asp101Asn	RCV000669377	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894786C>T	ClinVar
PAH	P00439	p.Ile102Thr	rs62508591	missense variant	-	NC_000012.12:g.102894782A>G	-
PAH	P00439	p.Ile102Thr	RCV000088894	missense variant	-	NC_000012.12:g.102894782A>G	ClinVar
PAH	P00439	p.Ile102Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102894783T>C	NCI-TCGA
PAH	P00439	p.Gly103Ser	RCV000667147	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894780C>T	ClinVar
PAH	P00439	p.Gly103Cys	rs752792040	missense variant	-	NC_000012.12:g.102894780C>A	ExAC,TOPMed
PAH	P00439	p.Gly103Cys	RCV000669128	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894780C>A	ClinVar
PAH	P00439	p.Gly103Ser	rs752792040	missense variant	-	NC_000012.12:g.102894780C>T	ExAC,TOPMed
PAH	P00439	p.Gly103TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.102894780_102894781insA	NCI-TCGA
PAH	P00439	p.Ala104Asp	rs62642929	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894776G>T	UniProt,dbSNP
PAH	P00439	p.Ala104Asp	VAR_000892	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894776G>T	UniProt
PAH	P00439	p.Ala104Asp	rs62642929	missense variant	-	NC_000012.12:g.102894776G>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala104Asp	RCV000349567	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894776G>T	ClinVar
PAH	P00439	p.Ala104Asp	RCV000088896	missense variant	-	NC_000012.12:g.102894776G>T	ClinVar
PAH	P00439	p.His107Arg	rs542645236	missense variant	-	NC_000012.12:g.102894767T>C	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.His107Arg	RCV000210807	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894767T>C	ClinVar
PAH	P00439	p.Ser110Ter	RCV000410526	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102894758del	ClinVar
PAH	P00439	p.Ser110Leu	RCV000088897	missense variant	-	NC_000012.12:g.102894758G>A	ClinVar
PAH	P00439	p.Ser110Leu	rs199475627	missense variant	-	NC_000012.12:g.102894758G>A	-
PAH	P00439	p.Ser110Cys	VAR_009241	Missense	Hyperphenylalaninemia (HPA) [MIM:261600]	-	UniProt
PAH	P00439	p.Arg111Ter	RCV000000611	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102894756G>A	ClinVar
PAH	P00439	p.Arg111Gln	rs868854935	missense variant	-	NC_000012.12:g.102894755C>T	TOPMed,gnomAD
PAH	P00439	p.Arg111Ter	RCV000088898	nonsense	-	NC_000012.12:g.102894756G>A	ClinVar
PAH	P00439	p.Arg111Ter	rs76296470	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102894756G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Lys113Glu	rs1331306772	missense variant	-	NC_000012.12:g.102894750T>C	gnomAD
PAH	P00439	p.Lys115Ter	RCV000088899	frameshift	-	NC_000012.12:g.102894740_102894743TCTT[1]	ClinVar
PAH	P00439	p.Asp116Gly	COSM4453785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102894740T>C	NCI-TCGA Cosmic
PAH	P00439	p.Thr117Ile	RCV000106354	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102894737G>A	ClinVar
PAH	P00439	p.Thr117Ter	RCV000106355	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102894737del	ClinVar
PAH	P00439	p.Thr117Ala	rs1384860249	missense variant	-	NC_000012.12:g.102894738T>C	gnomAD
PAH	P00439	p.Thr117Ile	rs281865439	missense variant	-	NC_000012.12:g.102894737G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Val118Met	rs776442422	missense variant	-	NC_000012.12:g.102894735C>T	ExAC,gnomAD
PAH	P00439	p.Pro119Leu	RCV000385558	missense variant	-	NC_000012.12:g.102877547G>A	ClinVar
PAH	P00439	p.Pro119Ser	RCV000178066	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877548G>A	ClinVar
PAH	P00439	p.Pro119Ser	rs398123292	missense variant	-	NC_000012.12:g.102877548G>A	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Pro119Leu	rs374999809	missense variant	-	NC_000012.12:g.102877547G>A	ESP,ExAC,gnomAD
PAH	P00439	p.Pro119Arg	rs374999809	missense variant	-	NC_000012.12:g.102877547G>C	ESP,ExAC,gnomAD
PAH	P00439	p.Pro119Ser	RCV000790751	missense variant	-	NC_000012.12:g.102877548G>A	ClinVar
PAH	P00439	p.Trp120Ter	RCV000088903	nonsense	-	NC_000012.12:g.102877544C>T	ClinVar
PAH	P00439	p.Trp120Ter	RCV000178065	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102877548del	ClinVar
PAH	P00439	p.Trp120Ter	RCV000724124	frameshift	-	NC_000012.12:g.102877548del	ClinVar
PAH	P00439	p.Trp120Ter	rs199475586	stop gained	-	NC_000012.12:g.102877544C>T	-
PAH	P00439	p.Trp120Arg	rs775327122	missense variant	-	NC_000012.12:g.102877545A>G	ExAC
PAH	P00439	p.Phe121Ser	RCV000758109	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877541A>G	ClinVar
PAH	P00439	p.Phe121Leu	VAR_069776	Missense	Hyperphenylalaninemia (HPA) [MIM:261600]	-	UniProt
PAH	P00439	p.Pro122Gln	RCV000088904	missense variant	-	NC_000012.12:g.102877538G>T	ClinVar
PAH	P00439	p.Pro122Ser	rs1466564208	missense variant	-	NC_000012.12:g.102877539G>A	gnomAD
PAH	P00439	p.Pro122Gln	rs199475622	missense variant	-	NC_000012.12:g.102877538G>T	-
PAH	P00439	p.Arg123Ile	RCV000666513	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877535C>A	ClinVar
PAH	P00439	p.Thr124Ile	RCV000088906	missense variant	-	NC_000012.12:g.102877532G>A	ClinVar
PAH	P00439	p.Thr124Ile	rs199475571	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877532G>A	UniProt,dbSNP
PAH	P00439	p.Thr124Ile	VAR_000893	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877532G>A	UniProt
PAH	P00439	p.Thr124Ile	rs199475571	missense variant	-	NC_000012.12:g.102877532G>A	TOPMed,gnomAD
PAH	P00439	p.Thr124Asn	rs199475571	missense variant	-	NC_000012.12:g.102877532G>T	TOPMed,gnomAD
PAH	P00439	p.Ile125Leu	rs1215779649	missense variant	-	NC_000012.12:g.102877530T>G	gnomAD
PAH	P00439	p.Gln126Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102877527G>C	NCI-TCGA
PAH	P00439	p.Glu127Lys	RCV000664540	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877524C>T	ClinVar
PAH	P00439	p.Glu127Asp	rs767127989	missense variant	-	NC_000012.12:g.102877522C>G	ExAC,gnomAD
PAH	P00439	p.Glu127Lys	rs1555206565	missense variant	-	NC_000012.12:g.102877524C>T	-
PAH	P00439	p.Glu127Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.102877524C>A	NCI-TCGA
PAH	P00439	p.Asp129Val	RCV000088909	missense variant	-	NC_000012.12:g.102877517T>A	ClinVar
PAH	P00439	p.Asp129Gly	RCV000672629	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877517T>C	ClinVar
PAH	P00439	p.Asp129Tyr	RCV000088907	missense variant	-	NC_000012.12:g.102877518C>A	ClinVar
PAH	P00439	p.Asp129Gly	rs199475623	missense variant	-	NC_000012.12:g.102877517T>C	gnomAD
PAH	P00439	p.Asp129Tyr	rs199475606	missense variant	-	NC_000012.12:g.102877518C>A	-
PAH	P00439	p.Asp129Tyr	rs199475606	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877518C>A	UniProt,dbSNP
PAH	P00439	p.Asp129Tyr	VAR_000894	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877518C>A	UniProt
PAH	P00439	p.Asp129Val	rs199475623	missense variant	-	NC_000012.12:g.102877517T>A	gnomAD
PAH	P00439	p.Arg130Lys	COSM2063946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102877514C>T	NCI-TCGA Cosmic
PAH	P00439	p.Arg130Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102877514C>A	NCI-TCGA
PAH	P00439	p.Ala132Thr	rs1010447542	missense variant	-	NC_000012.12:g.102877509C>T	TOPMed,gnomAD
PAH	P00439	p.Asn133Ter	RCV000531628	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102877504_102877507del	ClinVar
PAH	P00439	p.Asn133Ter	RCV000088910	frameshift	-	NC_000012.12:g.102877504_102877507del	ClinVar
PAH	P00439	p.Asn133Ser	rs1297932046	missense variant	-	NC_000012.12:g.102877505T>C	gnomAD
PAH	P00439	p.Asn133Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102877505T>G	NCI-TCGA
PAH	P00439	p.Gln134Ter	RCV000169559	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102877503G>A	ClinVar
PAH	P00439	p.Leu136Ile	COSM1358237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102877497G>T	NCI-TCGA Cosmic
PAH	P00439	p.Leu136Arg	rs1362836017	missense variant	-	NC_000012.12:g.102877496A>C	gnomAD
PAH	P00439	p.Tyr138Cys	rs1251581968	missense variant	-	NC_000012.12:g.102877490T>C	TOPMed
PAH	P00439	p.Gly139Glu	rs375384973	missense variant	-	NC_000012.12:g.102877487C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala140Val	rs372657268	missense variant	-	NC_000012.12:g.102877484G>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala140Gly	rs372657268	missense variant	-	NC_000012.12:g.102877484G>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala140Glu	rs372657268	missense variant	-	NC_000012.12:g.102877484G>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Asp143Gly	RCV000088914	missense variant	-	NC_000012.12:g.102877475T>C	ClinVar
PAH	P00439	p.Asp143Asn	rs1009545424	missense variant	-	NC_000012.12:g.102877476C>T	TOPMed
PAH	P00439	p.Asp143Gly	rs199475572	missense variant	-	NC_000012.12:g.102877475T>C	gnomAD
PAH	P00439	p.Asp143Gly	rs199475572	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877475T>C	UniProt,dbSNP
PAH	P00439	p.Asp143Gly	VAR_000895	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877475T>C	UniProt
PAH	P00439	p.Asp143Val	rs199475572	missense variant	-	NC_000012.12:g.102877475T>A	gnomAD
PAH	P00439	p.Asp143Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102877476C>A	NCI-TCGA
PAH	P00439	p.Asp145Val	RCV000546355	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877469T>A	ClinVar
PAH	P00439	p.Asp145Glu	rs1375045653	missense variant	-	NC_000012.12:g.102877468G>T	TOPMed,gnomAD
PAH	P00439	p.Asp145Val	rs140175796	missense variant	-	NC_000012.12:g.102877469T>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Asp145Val	rs140175796	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877469T>A	UniProt,dbSNP
PAH	P00439	p.Asp145Val	VAR_011566	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877469T>A	UniProt
PAH	P00439	p.His146Tyr	RCV000088916	missense variant	-	NC_000012.12:g.102877467G>A	ClinVar
PAH	P00439	p.His146Tyr	rs199475599	missense variant	-	NC_000012.12:g.102877467G>A	-
PAH	P00439	p.His146Tyr	rs199475599	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877467G>A	UniProt,dbSNP
PAH	P00439	p.His146Tyr	VAR_000896	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102877467G>A	UniProt
PAH	P00439	p.Pro147Ser	RCV000088917	missense variant	-	NC_000012.12:g.102877464G>A	ClinVar
PAH	P00439	p.Pro147Leu	RCV000088918	missense variant	-	NC_000012.12:g.102877463G>A	ClinVar
PAH	P00439	p.Pro147Leu	rs199475694	missense variant	-	NC_000012.12:g.102877463G>A	-
PAH	P00439	p.Pro147Ser	rs199475624	missense variant	-	NC_000012.12:g.102877464G>A	TOPMed,gnomAD
PAH	P00439	p.Gly148Ser	RCV000088928	missense variant	-	NC_000012.12:g.102866663C>T	ClinVar
PAH	P00439	p.Gly148Val	rs1555205655	missense variant	-	NC_000012.12:g.102866662C>A	-
PAH	P00439	p.Gly148Ser	rs80297647	missense variant	-	NC_000012.12:g.102866663C>T	gnomAD
PAH	P00439	p.Gly148Ser	rs80297647	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866663C>T	UniProt,dbSNP
PAH	P00439	p.Gly148Ser	VAR_000897	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866663C>T	UniProt
PAH	P00439	p.Gly148Val	RCV000667958	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866662C>A	ClinVar
PAH	P00439	p.Asp151Gly	RCV000088931	missense variant	-	NC_000012.12:g.102866653T>C	ClinVar
PAH	P00439	p.Asp151His	RCV000088930	missense variant	-	NC_000012.12:g.102866654C>G	ClinVar
PAH	P00439	p.Asp151Tyr	COSM1358236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102866654C>A	NCI-TCGA Cosmic
PAH	P00439	p.Asp151Gly	rs199475625	missense variant	-	NC_000012.12:g.102866653T>C	-
PAH	P00439	p.Asp151His	rs199475597	missense variant	-	NC_000012.12:g.102866654C>G	-
PAH	P00439	p.Asp151His	rs199475597	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866654C>G	UniProt,dbSNP
PAH	P00439	p.Asp151His	VAR_000898	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866654C>G	UniProt
PAH	P00439	p.Tyr154Phe	RCV000759178	missense variant	-	NC_000012.12:g.102866644T>A	ClinVar
PAH	P00439	p.Tyr154His	RCV000088933	missense variant	-	NC_000012.12:g.102866645A>G	ClinVar
PAH	P00439	p.Tyr154Asn	RCV000088932	missense variant	-	NC_000012.12:g.102866645A>T	ClinVar
PAH	P00439	p.Tyr154Asn	rs199475587	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866645A>T	UniProt,dbSNP
PAH	P00439	p.Tyr154Asn	VAR_000899	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866645A>T	UniProt
PAH	P00439	p.Tyr154Asn	rs199475587	missense variant	-	NC_000012.12:g.102866645A>T	-
PAH	P00439	p.Tyr154His	rs199475587	missense variant	-	NC_000012.12:g.102866645A>G	-
PAH	P00439	p.Arg155His	RCV000088934	missense variant	-	NC_000012.12:g.102866641C>T	ClinVar
PAH	P00439	p.Arg155Pro	RCV000675156	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866641C>G	ClinVar
PAH	P00439	p.Arg155Cys	rs539743701	missense variant	-	NC_000012.12:g.102866642G>A	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Arg155His	rs199475663	missense variant	-	NC_000012.12:g.102866641C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg155Pro	rs199475663	missense variant	-	NC_000012.12:g.102866641C>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg155Pro	rs199475663	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866641C>G	UniProt,dbSNP
PAH	P00439	p.Arg155Pro	VAR_009242	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866641C>G	UniProt
PAH	P00439	p.Arg155Cys	RCV000669560	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866642G>A	ClinVar
PAH	P00439	p.Ala156Pro	RCV000088936	missense variant	-	NC_000012.12:g.102866639C>G	ClinVar
PAH	P00439	p.Ala156Pro	rs199475686	missense variant	-	NC_000012.12:g.102866639C>G	-
PAH	P00439	p.Ala156Val	rs570748767	missense variant	-	NC_000012.12:g.102866638G>A	1000Genomes
PAH	P00439	p.Arg157Lys	RCV000088938	missense variant	-	NC_000012.12:g.102866635C>T	ClinVar
PAH	P00439	p.Arg157Thr	RCV000758125	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866635C>G	ClinVar
PAH	P00439	p.Arg157Ile	RCV000088939	missense variant	-	NC_000012.12:g.102866635C>A	ClinVar
PAH	P00439	p.Arg157Ser	RCV000088940	missense variant	-	NC_000012.12:g.102866634T>G	ClinVar
PAH	P00439	p.Arg157Lys	rs199475611	missense variant	-	NC_000012.12:g.102866635C>T	-
PAH	P00439	p.Arg157Ser	rs199475612	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866634T>G	UniProt,dbSNP
PAH	P00439	p.Arg157Ser	VAR_068000	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866634T>G	UniProt
PAH	P00439	p.Arg157Ser	rs199475612	missense variant	-	NC_000012.12:g.102866634T>G	TOPMed
PAH	P00439	p.Arg157Ile	rs199475611	missense variant	-	NC_000012.12:g.102866635C>A	-
PAH	P00439	p.Arg157Asn	RCV000721919	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866634_102866635delinsGT	ClinVar
PAH	P00439	p.Arg157Asn	VAR_000900	Missense	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Arg158Gln	RCV000078522	missense variant	-	NC_000012.12:g.102866632C>T	ClinVar
PAH	P00439	p.Arg158Trp	RCV000088941	missense variant	-	NC_000012.12:g.102866633G>A	ClinVar
PAH	P00439	p.Arg158Pro	rs5030843	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102866632C>G	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg158Trp	rs75166491	missense variant	-	NC_000012.12:g.102866633G>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg158Gln	rs5030843	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102866632C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg158Gln	rs5030843	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102866632C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg158Pro	RCV000758092	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866632C>G	ClinVar
PAH	P00439	p.Arg158Gln	RCV000000618	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866632C>T	ClinVar
PAH	P00439	p.Arg158Trp	RCV000409986	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866633G>A	ClinVar
PAH	P00439	p.Gln160Pro	RCV000088943	missense variant	-	NC_000012.12:g.102866626T>G	ClinVar
PAH	P00439	p.Gln160Pro	rs199475601	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866626T>G	UniProt,dbSNP
PAH	P00439	p.Gln160Pro	VAR_000903	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866626T>G	UniProt
PAH	P00439	p.Gln160Arg	rs199475601	missense variant	-	NC_000012.12:g.102866626T>C	gnomAD
PAH	P00439	p.Gln160Pro	rs199475601	missense variant	-	NC_000012.12:g.102866626T>G	gnomAD
PAH	P00439	p.Phe161Ser	RCV000674841	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866623A>G	ClinVar
PAH	P00439	p.Phe161Ser	rs79635844	missense variant	-	NC_000012.12:g.102866623A>G	TOPMed
PAH	P00439	p.Ala162Ser	rs547566250	missense variant	-	NC_000012.12:g.102866621C>A	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile164Thr	RCV000088947	missense variant	-	NC_000012.12:g.102866614A>G	ClinVar
PAH	P00439	p.Ile164Val	RCV000535090	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866615T>C	ClinVar
PAH	P00439	p.Ile164Thr	rs199475595	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866614A>G	UniProt,dbSNP
PAH	P00439	p.Ile164Thr	VAR_000905	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866614A>G	UniProt
PAH	P00439	p.Ile164Thr	rs199475595	missense variant	-	NC_000012.12:g.102866614A>G	-
PAH	P00439	p.Ile164Val	rs199475647	missense variant	-	NC_000012.12:g.102866615T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala165Pro	RCV000672775	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866612C>G	ClinVar
PAH	P00439	p.Ala165Thr	RCV000088948	missense variant	-	NC_000012.12:g.102866612C>T	ClinVar
PAH	P00439	p.Ala165Pro	rs199475626	missense variant	-	NC_000012.12:g.102866612C>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala165Thr	rs199475626	missense variant	-	NC_000012.12:g.102866612C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr166Ter	RCV000410899	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102866607G>C	ClinVar
PAH	P00439	p.Tyr166Ter	RCV000088950	nonsense	-	NC_000012.12:g.102866607G>T	ClinVar
PAH	P00439	p.Tyr166Ter	rs199475645	stop gained	-	NC_000012.12:g.102866607G>T	-
PAH	P00439	p.Tyr166Cys	rs753254031	missense variant	-	NC_000012.12:g.102866608T>C	ExAC,gnomAD
PAH	P00439	p.Tyr166Ter	rs199475645	stop gained	-	NC_000012.12:g.102866607G>C	-
PAH	P00439	p.Asn167Ser	RCV000088951	missense variant	-	NC_000012.12:g.102866605T>C	ClinVar
PAH	P00439	p.Asn167Ile	RCV000412232	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866605T>A	ClinVar
PAH	P00439	p.Asn167Ile	rs77554925	missense variant	-	NC_000012.12:g.102866605T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Asn167Ser	rs77554925	missense variant	-	NC_000012.12:g.102866605T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Asn167Tyr	rs1210056131	missense variant	-	NC_000012.12:g.102866606T>A	TOPMed,gnomAD
PAH	P00439	p.Tyr168Ter	RCV000375882	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102866602del	ClinVar
PAH	P00439	p.Tyr168His	RCV000088952	missense variant	-	NC_000012.12:g.102866603A>G	ClinVar
PAH	P00439	p.Tyr168Ter	RCV000106358	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102866601G>T	ClinVar
PAH	P00439	p.Tyr168Ter	RCV000088953	frameshift	-	NC_000012.12:g.102866602del	ClinVar
PAH	P00439	p.Tyr168Asn	rs199475646	missense variant	-	NC_000012.12:g.102866603A>T	TOPMed
PAH	P00439	p.Tyr168His	rs199475646	missense variant	-	NC_000012.12:g.102866603A>G	TOPMed
PAH	P00439	p.Tyr168Ter	rs281865455	stop gained	-	NC_000012.12:g.102866601G>T	-
PAH	P00439	p.Arg169Cys	RCV000111461	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866600G>A	ClinVar
PAH	P00439	p.Arg169His	RCV000311018	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866599C>T	ClinVar
PAH	P00439	p.Arg169Pro	RCV000515792	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866599C>G	ClinVar
PAH	P00439	p.Arg169Gly	RCV000666071	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866600G>C	ClinVar
PAH	P00439	p.Arg169Gly	rs281865440	missense variant	-	NC_000012.12:g.102866600G>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg169Cys	rs281865440	missense variant	-	NC_000012.12:g.102866600G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg169Pro	rs199475679	missense variant	-	NC_000012.12:g.102866599C>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg169His	rs199475679	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866599C>T	UniProt,dbSNP
PAH	P00439	p.Arg169His	VAR_011568	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866599C>T	UniProt
PAH	P00439	p.Arg169His	rs199475679	missense variant	-	NC_000012.12:g.102866599C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.His170Asp	RCV000150088	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866597G>C	ClinVar
PAH	P00439	p.His170Arg	RCV000088959	missense variant	-	NC_000012.12:g.102866596T>C	ClinVar
PAH	P00439	p.His170Asp	RCV000078524	missense variant	-	NC_000012.12:g.102866597G>C	ClinVar
PAH	P00439	p.His170Arg	rs199475573	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866596T>C	UniProt,dbSNP
PAH	P00439	p.His170Arg	VAR_000907	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102866596T>C	UniProt
PAH	P00439	p.His170Arg	rs199475573	missense variant	-	NC_000012.12:g.102866596T>C	-
PAH	P00439	p.His170Gln	RCV000088963	missense variant	-	NC_000012.12:g.102855332A>T	ClinVar
PAH	P00439	p.His170Asp	rs199475655	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102866597G>C	UniProt,dbSNP
PAH	P00439	p.His170Asp	VAR_011569	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102866597G>C	UniProt
PAH	P00439	p.His170Asp	rs199475655	missense variant	-	NC_000012.12:g.102866597G>C	TOPMed,gnomAD
PAH	P00439	p.His170Gln	rs199475652	missense variant	-	NC_000012.12:g.102855332A>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.His170Gln	rs199475652	missense variant	-	NC_000012.12:g.102855332A>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.His170Gln	rs199475652	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855332A>T	UniProt,dbSNP
PAH	P00439	p.His170Gln	VAR_068001	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855332A>T	UniProt
PAH	P00439	p.Gly171Arg	RCV000560269	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855331C>T	ClinVar
PAH	P00439	p.Gly171Ala	RCV000088965	missense variant	-	NC_000012.12:g.102855330C>G	ClinVar
PAH	P00439	p.Gly171Trp	rs199475613	missense variant	-	NC_000012.12:g.102855331C>A	ExAC
PAH	P00439	p.Gly171Arg	rs199475613	missense variant	-	NC_000012.12:g.102855331C>T	ExAC
PAH	P00439	p.Gly171Arg	rs199475613	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855331C>T	UniProt,dbSNP
PAH	P00439	p.Gly171Arg	VAR_000909	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855331C>T	UniProt
PAH	P00439	p.Gly171Ala	rs199475596	missense variant	-	NC_000012.12:g.102855330C>G	-
PAH	P00439	p.Gly171Ala	rs199475596	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855330C>G	UniProt,dbSNP
PAH	P00439	p.Gly171Ala	VAR_000908	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855330C>G	UniProt
PAH	P00439	p.Gln172Ter	RCV000088966	nonsense	-	NC_000012.12:g.102855328G>A	ClinVar
PAH	P00439	p.Gln172His	rs192592111	missense variant	-	NC_000012.12:g.102855326C>A	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Gln172Ter	rs199475588	stop gained	-	NC_000012.12:g.102855328G>A	-
PAH	P00439	p.Pro173Thr	RCV000088967	missense variant	-	NC_000012.12:g.102855325G>T	ClinVar
PAH	P00439	p.Pro173Thr	rs199475574	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855325G>T	UniProt,dbSNP
PAH	P00439	p.Pro173Thr	VAR_000910	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855325G>T	UniProt
PAH	P00439	p.Pro173Thr	rs199475574	missense variant	-	NC_000012.12:g.102855325G>T	-
PAH	P00439	p.Ile174Asn	rs138809906	missense variant	-	NC_000012.12:g.102855321A>T	ESP,ExAC,gnomAD
PAH	P00439	p.Ile174Val	RCV000675155	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855322T>C	ClinVar
PAH	P00439	p.Ile174Thr	RCV000088969	missense variant	-	NC_000012.12:g.102855321A>G	ClinVar
PAH	P00439	p.Ile174Val	rs199475632	missense variant	-	NC_000012.12:g.102855322T>C	-
PAH	P00439	p.Ile174Val	rs199475632	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855322T>C	UniProt,dbSNP
PAH	P00439	p.Ile174Val	VAR_011570	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855322T>C	UniProt
PAH	P00439	p.Ile174Thr	rs138809906	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855321A>G	UniProt,dbSNP
PAH	P00439	p.Ile174Thr	VAR_000911	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855321A>G	UniProt
PAH	P00439	p.Ile174Thr	rs138809906	missense variant	-	NC_000012.12:g.102855321A>G	ESP,ExAC,gnomAD
PAH	P00439	p.Pro175Ala	RCV000088970	missense variant	-	NC_000012.12:g.102855319G>C	ClinVar
PAH	P00439	p.Pro175Ser	RCV000671178	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855319G>A	ClinVar
PAH	P00439	p.Pro175Arg	rs1325591065	missense variant	-	NC_000012.12:g.102855318G>C	TOPMed
PAH	P00439	p.Pro175Ala	rs199475604	missense variant	-	NC_000012.12:g.102855319G>C	-
PAH	P00439	p.Pro175Ala	rs199475604	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855319G>C	UniProt,dbSNP
PAH	P00439	p.Pro175Ala	VAR_000912	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855319G>C	UniProt
PAH	P00439	p.Pro175Ser	rs199475604	missense variant	-	NC_000012.12:g.102855319G>A	-
PAH	P00439	p.Arg176Ter	RCV000088971	nonsense	-	NC_000012.12:g.102855316G>A	ClinVar
PAH	P00439	p.Arg176Ter	RCV000179282	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855316G>A	ClinVar
PAH	P00439	p.Arg176Leu	RCV000088974	missense variant	-	NC_000012.12:g.102855315C>A	ClinVar
PAH	P00439	p.Arg176Gln	RCV000810165	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855315C>T	ClinVar
PAH	P00439	p.Arg176Gln	rs74486803	missense variant	-	NC_000012.12:g.102855315C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg176Pro	rs74486803	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855315C>G	UniProt,dbSNP
PAH	P00439	p.Arg176Pro	VAR_000914	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855315C>G	UniProt
PAH	P00439	p.Arg176Pro	rs74486803	missense variant	-	NC_000012.12:g.102855315C>G	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg176Ter	rs199475575	stop gained	-	NC_000012.12:g.102855316G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg176Leu	rs74486803	missense variant	-	NC_000012.12:g.102855315C>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg176Leu	rs74486803	missense variant	-	NC_000012.12:g.102855315C>A	UniProt,dbSNP
PAH	P00439	p.Arg176Leu	VAR_000913	missense variant	-	NC_000012.12:g.102855315C>A	UniProt
PAH	P00439	p.Arg176Pro	RCV000088973	missense variant	-	NC_000012.12:g.102855315C>G	ClinVar
PAH	P00439	p.Arg176Leu	RCV000346024	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855315C>A	ClinVar
PAH	P00439	p.Arg176Leu	RCV000000663	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102855315C>A	ClinVar
PAH	P00439	p.Val177Met	RCV000589313	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102855313C>T	ClinVar
PAH	P00439	p.Val177Leu	RCV000669836	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855313C>G	ClinVar
PAH	P00439	p.Val177Met	RCV000534379	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855313C>T	ClinVar
PAH	P00439	p.Val177Met	rs199475602	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102855313C>T	UniProt,dbSNP
PAH	P00439	p.Val177Met	VAR_068002	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102855313C>T	UniProt
PAH	P00439	p.Val177Met	rs199475602	missense variant	-	NC_000012.12:g.102855313C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Val177Leu	rs199475602	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855313C>G	UniProt,dbSNP
PAH	P00439	p.Val177Leu	VAR_000915	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855313C>G	UniProt
PAH	P00439	p.Val177Leu	rs199475602	missense variant	-	NC_000012.12:g.102855313C>G	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Glu178Gly	RCV000078526	missense variant	-	NC_000012.12:g.102855309T>C	ClinVar
PAH	P00439	p.Glu178Val	RCV000088977	missense variant	-	NC_000012.12:g.102855309T>A	ClinVar
PAH	P00439	p.Glu178Gly	RCV000150087	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855309T>C	ClinVar
PAH	P00439	p.Glu178Gly	rs77958223	missense variant	-	NC_000012.12:g.102855309T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Glu178Lys	rs1448720360	missense variant	-	NC_000012.12:g.102855310C>T	TOPMed,gnomAD
PAH	P00439	p.Glu178Val	rs77958223	missense variant	-	NC_000012.12:g.102855309T>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr179His	RCV000088979	missense variant	-	NC_000012.12:g.102855307A>G	ClinVar
PAH	P00439	p.Tyr179Asn	RCV000721182	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855307A>T	ClinVar
PAH	P00439	p.Tyr179Asn	rs199475671	missense variant	-	NC_000012.12:g.102855307A>T	-
PAH	P00439	p.Tyr179His	rs199475671	missense variant	-	NC_000012.12:g.102855307A>G	-
PAH	P00439	p.Met180Arg	rs745723155	missense variant	-	NC_000012.12:g.102855303A>C	ExAC,gnomAD
PAH	P00439	p.Met180Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102855304T>A	NCI-TCGA
PAH	P00439	p.Glu181Lys	rs1432001010	missense variant	-	NC_000012.12:g.102855301C>T	TOPMed
PAH	P00439	p.Glu182Gly	RCV000088980	missense variant	-	NC_000012.12:g.102855297T>C	ClinVar
PAH	P00439	p.Glu182Lys	COSM3416399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855298C>T	NCI-TCGA Cosmic
PAH	P00439	p.Glu182Gly	rs199475617	missense variant	-	NC_000012.12:g.102855297T>C	ExAC,gnomAD
PAH	P00439	p.Glu183Leu	RCV000106359	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855294_102855295delinsAA	ClinVar
PAH	P00439	p.Glu183Gln	RCV000088981	missense variant	-	NC_000012.12:g.102855295C>G	ClinVar
PAH	P00439	p.Glu183Leu	rs281865433	missense variant	-	NC_000012.12:g.102855294_102855295delinsAA	-
PAH	P00439	p.Glu183Lys	rs199475664	missense variant	-	NC_000012.12:g.102855295C>T	ExAC,gnomAD
PAH	P00439	p.Glu183Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.102855295C>A	NCI-TCGA
PAH	P00439	p.Glu183Gln	rs199475664	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855295C>G	UniProt,dbSNP
PAH	P00439	p.Glu183Gln	VAR_009243	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855295C>G	UniProt
PAH	P00439	p.Glu183Gln	rs199475664	missense variant	-	NC_000012.12:g.102855295C>G	ExAC,gnomAD
PAH	P00439	p.Lys184Gln	rs1311748050	missense variant	-	NC_000012.12:g.102855292T>G	gnomAD
PAH	P00439	p.Thr186Pro	COSM4038089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855286T>G	NCI-TCGA Cosmic
PAH	P00439	p.Thr186Ter	RCV000088982	frameshift	-	NC_000012.12:g.102855289del	ClinVar
PAH	P00439	p.Thr186Ter	RCV000586383	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855289del	ClinVar
PAH	P00439	p.Thr186Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102855286T>C	NCI-TCGA
PAH	P00439	p.Trp187Cys	RCV000668474	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855281C>G	ClinVar
PAH	P00439	p.Trp187Ter	RCV000088985	nonsense	-	NC_000012.12:g.102855281C>T	ClinVar
PAH	P00439	p.Trp187Arg	RCV000671079	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855283A>G	ClinVar
PAH	P00439	p.Trp187Ter	rs62507336	stop gained	-	NC_000012.12:g.102855281C>T	TOPMed,gnomAD
PAH	P00439	p.Trp187Cys	rs62507336	missense variant	-	NC_000012.12:g.102855281C>G	TOPMed,gnomAD
PAH	P00439	p.Trp187Arg	rs62507272	missense variant	-	NC_000012.12:g.102855283A>G	-
PAH	P00439	p.Trp187Ter	RCV000412455	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855283_102855284del	ClinVar
PAH	P00439	p.Trp187Ter	RCV000169529	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855281C>T	ClinVar
PAH	P00439	p.Trp187Ter	RCV000088983	frameshift	-	NC_000012.12:g.102855283_102855284del	ClinVar
PAH	P00439	p.Gly188Asp	RCV000674846	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855279C>T	ClinVar
PAH	P00439	p.Gly188Ter	RCV000088988	frameshift	-	NC_000012.12:g.102855282del	ClinVar
PAH	P00439	p.Gly188Ala	rs199475689	missense variant	-	NC_000012.12:g.102855279C>G	ExAC,gnomAD
PAH	P00439	p.Gly188Asp	rs199475689	missense variant	-	NC_000012.12:g.102855279C>T	ExAC,gnomAD
PAH	P00439	p.Thr189Arg	rs1555204728	missense variant	-	NC_000012.12:g.102855276G>C	-
PAH	P00439	p.Thr189Arg	RCV000522171	missense variant	-	NC_000012.12:g.102855276G>C	ClinVar
PAH	P00439	p.Val190Met	RCV000106360	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855274C>T	ClinVar
PAH	P00439	p.Val190Ala	RCV000632878	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855273A>G	ClinVar
PAH	P00439	p.Val190Met	rs281865441	missense variant	-	NC_000012.12:g.102855274C>T	TOPMed
PAH	P00439	p.Val190LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.102855275_102855276insTAAAGCCCAAG	NCI-TCGA
PAH	P00439	p.Val190Ala	rs62514919	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855273A>G	UniProt,dbSNP
PAH	P00439	p.Val190Ala	VAR_000917	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855273A>G	UniProt
PAH	P00439	p.Val190Ala	rs62514919	missense variant	-	NC_000012.12:g.102855273A>G	ExAC
PAH	P00439	p.Phe191Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102855270A>C	NCI-TCGA
PAH	P00439	p.Lys192Asn	COSM4038088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855266C>A	NCI-TCGA Cosmic
PAH	P00439	p.Thr193Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102855264G>T	NCI-TCGA
PAH	P00439	p.Thr193Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102855264G>A	NCI-TCGA
PAH	P00439	p.Leu194Pro	RCV000411842	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855261A>G	ClinVar
PAH	P00439	p.Leu194Ter	RCV000088990	frameshift	-	NC_000012.12:g.102855261_102855262AG[1]	ClinVar
PAH	P00439	p.Leu194Pro	rs5030844	missense variant	-	NC_000012.12:g.102855261A>G	ExAC,gnomAD
PAH	P00439	p.Leu194Ter	RCV000169180	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855261_102855262AG[1]	ClinVar
PAH	P00439	p.Leu194del	VAR_000919	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Lys195Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102855257C>A	NCI-TCGA
PAH	P00439	p.Ser196Tyr	RCV000672941	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855255G>T	ClinVar
PAH	P00439	p.Ser196Ter	RCV000088992	frameshift	-	NC_000012.12:g.102855235_102855257del	ClinVar
PAH	P00439	p.Ser196Tyr	rs865899394	missense variant	-	NC_000012.12:g.102855255G>T	gnomAD
PAH	P00439	p.Ser196Phe	rs865899394	missense variant	-	NC_000012.12:g.102855255G>A	gnomAD
PAH	P00439	p.Ser196Ter	RCV000088994	nonsense	-	NC_000012.12:g.102855231_102855253del	ClinVar
PAH	P00439	p.Leu197Trp	RCV000300336	missense variant	-	NC_000012.12:g.102855252A>C	ClinVar
PAH	P00439	p.Leu197Phe	RCV000106361	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855251C>G	ClinVar
PAH	P00439	p.Leu197Trp	rs886042078	missense variant	-	NC_000012.12:g.102855252A>C	-
PAH	P00439	p.Leu197Phe	rs281865442	missense variant	-	NC_000012.12:g.102855251C>G	-
PAH	P00439	p.Leu197del	VAR_000920	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Tyr198Ter	RCV000587795	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855231_102855252del	ClinVar
PAH	P00439	p.Tyr198Ter	RCV000088995	frameshift	-	NC_000012.12:g.102855231_102855252del	ClinVar
PAH	P00439	p.Tyr198Ter	RCV000088996	frameshift	-	NC_000012.12:g.102855228_102855249del	ClinVar
PAH	P00439	p.Tyr198del	VAR_000921	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Lys199ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.102855246_102855247insC	NCI-TCGA
PAH	P00439	p.Thr200Ter	RCV000088997	frameshift	-	NC_000012.12:g.102855247dup	ClinVar
PAH	P00439	p.His201Tyr	RCV000509208	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855241G>A	ClinVar
PAH	P00439	p.His201Arg	RCV000806196	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855240T>C	ClinVar
PAH	P00439	p.His201Tyr	RCV000588479	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102855241G>A	ClinVar
PAH	P00439	p.His201Tyr	rs62517205	missense variant	-	NC_000012.12:g.102855241G>A	gnomAD
PAH	P00439	p.His201Tyr	rs62517205	missense variant	-	NC_000012.12:g.102855241G>A	UniProt,dbSNP
PAH	P00439	p.His201Tyr	VAR_000923	missense variant	-	NC_000012.12:g.102855241G>A	UniProt
PAH	P00439	p.His201Gln	rs751977644	missense variant	-	NC_000012.12:g.102855239A>T	ExAC,gnomAD
PAH	P00439	p.His201Arg	rs62517180	missense variant	-	NC_000012.12:g.102855240T>C	-
PAH	P00439	p.His201Arg	rs62517180	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855240T>C	UniProt,dbSNP
PAH	P00439	p.His201Arg	VAR_000922	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855240T>C	UniProt
PAH	P00439	p.Cys203Tyr	RCV000089003	missense variant	-	NC_000012.12:g.102855234C>T	ClinVar
PAH	P00439	p.Cys203Ser	rs1555204715	missense variant	-	NC_000012.12:g.102855235A>T	-
PAH	P00439	p.Cys203Trp	rs1801147	missense variant	-	NC_000012.12:g.102855233G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Cys203Tyr	rs62507271	missense variant	-	NC_000012.12:g.102855234C>T	-
PAH	P00439	p.Cys203Trp	RCV000089004	missense variant	-	NC_000012.12:g.102855233G>C	ClinVar
PAH	P00439	p.Cys203Ser	RCV000592101	missense variant	-	NC_000012.12:g.102855235A>T	ClinVar
PAH	P00439	p.Tyr204Ter	RCV000686246	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855230A>C	ClinVar
PAH	P00439	p.Tyr204Cys	rs62514927	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102855231T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr204Cys	rs62514927	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855231T>C	UniProt,dbSNP
PAH	P00439	p.Tyr204Cys	VAR_000924	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855231T>C	UniProt
PAH	P00439	p.Tyr204Ter	rs62514928	stop gained	-	NC_000012.12:g.102855230A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr204Cys	RCV000000621	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855231T>C	ClinVar
PAH	P00439	p.Tyr204Ter	RCV000089008	nonsense	-	NC_000012.12:g.102855230A>C	ClinVar
PAH	P00439	p.Tyr204Ter	RCV000666269	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855232dup	ClinVar
PAH	P00439	p.Glu205Ala	rs62508593	missense variant	-	NC_000012.12:g.102855228T>G	-
PAH	P00439	p.Glu205Lys	rs63083560	missense variant	-	NC_000012.12:g.102855229C>T	-
PAH	P00439	p.Glu205Asp	rs765552494	missense variant	-	NC_000012.12:g.102855227C>G	ExAC,gnomAD
PAH	P00439	p.Glu205Ala	RCV000089010	missense variant	-	NC_000012.12:g.102855228T>G	ClinVar
PAH	P00439	p.Glu205Lys	RCV000089009	missense variant	-	NC_000012.12:g.102855229C>T	ClinVar
PAH	P00439	p.Tyr206Ter	RCV000578371	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855224G>C	ClinVar
PAH	P00439	p.Tyr206Asp	RCV000089011	missense variant	-	NC_000012.12:g.102855226A>C	ClinVar
PAH	P00439	p.Tyr206Ter	rs62517201	stop gained	-	NC_000012.12:g.102855224G>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr206Ter	rs62517201	stop gained	-	NC_000012.12:g.102855224G>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr206Cys	RCV000666489	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855225T>C	ClinVar
PAH	P00439	p.Tyr206Asp	rs62517170	missense variant	-	NC_000012.12:g.102855226A>C	-
PAH	P00439	p.Tyr206Asp	rs62517170	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855226A>C	UniProt,dbSNP
PAH	P00439	p.Tyr206Asp	VAR_000925	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855226A>C	UniProt
PAH	P00439	p.Tyr206Cys	rs62508728	missense variant	-	NC_000012.12:g.102855225T>C	-
PAH	P00439	p.Tyr206Ter	RCV000672692	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855224G>T	ClinVar
PAH	P00439	p.Asn207Asp	rs62508572	missense variant	-	NC_000012.12:g.102855223T>C	-
PAH	P00439	p.Asn207Ser	rs62508721	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855222T>C	UniProt,dbSNP
PAH	P00439	p.Asn207Ser	VAR_000927	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855222T>C	UniProt
PAH	P00439	p.Asn207Ser	rs62508721	missense variant	-	NC_000012.12:g.102855222T>C	-
PAH	P00439	p.Asn207Asp	RCV000089014	missense variant	-	NC_000012.12:g.102855223T>C	ClinVar
PAH	P00439	p.Asn207Ser	RCV000668775	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855222T>C	ClinVar
PAH	P00439	p.Ile209Asn	rs1409955402	missense variant	-	NC_000012.12:g.102855216A>T	gnomAD
PAH	P00439	p.Ile209Thr	rs1409955402	missense variant	-	NC_000012.12:g.102855216A>G	gnomAD
PAH	P00439	p.Phe210Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102855213A>T	NCI-TCGA
PAH	P00439	p.Pro211Leu	RCV000106364	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855210G>A	ClinVar
PAH	P00439	p.Pro211Ser	COSM2063932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855211G>A	NCI-TCGA Cosmic
PAH	P00439	p.Pro211Ter	RCV000089017	frameshift	-	NC_000012.12:g.102855211del	ClinVar
PAH	P00439	p.Pro211Thr	rs62514931	missense variant	-	NC_000012.12:g.102855211G>T	TOPMed,gnomAD
PAH	P00439	p.Pro211Thr	rs62514931	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855211G>T	UniProt,dbSNP
PAH	P00439	p.Pro211Thr	VAR_000928	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855211G>T	UniProt
PAH	P00439	p.Pro211Gln	rs281865443	missense variant	-	NC_000012.12:g.102855210G>T	gnomAD
PAH	P00439	p.Pro211Leu	rs281865443	missense variant	-	NC_000012.12:g.102855210G>A	gnomAD
PAH	P00439	p.Pro211Ter	RCV000411734	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855211del	ClinVar
PAH	P00439	p.Pro211Thr	RCV000089016	missense variant	-	NC_000012.12:g.102855211G>T	ClinVar
PAH	P00439	p.Leu212Pro	RCV000671113	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855207A>G	ClinVar
PAH	P00439	p.Leu212Pro	rs62517198	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855207A>G	UniProt,dbSNP
PAH	P00439	p.Leu212Pro	VAR_000929	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855207A>G	UniProt
PAH	P00439	p.Leu212Pro	rs62517198	missense variant	-	NC_000012.12:g.102855207A>G	-
PAH	P00439	p.Leu213Phe	RCV000493939	missense variant	-	NC_000012.12:g.102855205G>A	ClinVar
PAH	P00439	p.Leu213Pro	rs62516109	missense variant	-	NC_000012.12:g.102855204A>G	-
PAH	P00439	p.Leu213Pro	rs62516109	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855204A>G	UniProt,dbSNP
PAH	P00439	p.Leu213Pro	VAR_000930	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855204A>G	UniProt
PAH	P00439	p.Leu213Pro	RCV000150086	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855204A>G	ClinVar
PAH	P00439	p.Leu213Pro	RCV000078527	missense variant	-	NC_000012.12:g.102855204A>G	ClinVar
PAH	P00439	p.Leu213Phe	rs1131691945	missense variant	-	NC_000012.12:g.102855205G>A	-
PAH	P00439	p.Glu214Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.102855202C>A	NCI-TCGA
PAH	P00439	p.Lys215Met	COSM1358233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855198T>A	NCI-TCGA Cosmic
PAH	P00439	p.Lys215Glu	rs1166839656	missense variant	-	NC_000012.12:g.102855199T>C	gnomAD
PAH	P00439	p.Tyr216Ter	RCV000089019	nonsense	-	NC_000012.12:g.102855194G>C	ClinVar
PAH	P00439	p.Tyr216Ter	rs62509013	stop gained	-	NC_000012.12:g.102855194G>C	TOPMed
PAH	P00439	p.Tyr216Ter	RCV000179283	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855194G>C	ClinVar
PAH	P00439	p.Tyr216Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102855196A>T	NCI-TCGA
PAH	P00439	p.Cys217Arg	RCV000664975	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855193A>G	ClinVar
PAH	P00439	p.Cys217Gly	RCV000089021	missense variant	-	NC_000012.12:g.102855193A>C	ClinVar
PAH	P00439	p.Cys217Tyr	rs62508617	missense variant	-	NC_000012.12:g.102855192C>T	-
PAH	P00439	p.Cys217Arg	rs62508718	missense variant	-	NC_000012.12:g.102855193A>G	-
PAH	P00439	p.Cys217Tyr	RCV000758101	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855192C>T	ClinVar
PAH	P00439	p.Cys217Gly	rs62508718	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855193A>C	UniProt,dbSNP
PAH	P00439	p.Cys217Gly	VAR_000931	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855193A>C	UniProt
PAH	P00439	p.Cys217Gly	rs62508718	missense variant	-	NC_000012.12:g.102855193A>C	-
PAH	P00439	p.Gly218Val	RCV000705590	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855189C>A	ClinVar
PAH	P00439	p.Gly218Val	rs62514933	missense variant	-	NC_000012.12:g.102855189C>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Gly218Val	rs62514933	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855189C>A	UniProt,dbSNP
PAH	P00439	p.Gly218Val	VAR_000932	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855189C>A	UniProt
PAH	P00439	p.Phe219Tyr	rs1164279708	missense variant	-	NC_000012.12:g.102855186A>T	gnomAD
PAH	P00439	p.Glu221Lys	COSM3455202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102855181C>T	NCI-TCGA Cosmic
PAH	P00439	p.Glu221Gly	rs62514934	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102855180T>C	ExAC,gnomAD
PAH	P00439	p.Glu221Gly	rs62514934	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855180T>C	UniProt,dbSNP
PAH	P00439	p.Glu221Gly	VAR_000933	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855180T>C	UniProt
PAH	P00439	p.Glu221Gly	RCV000089024	missense variant	-	NC_000012.12:g.102855180T>C	ClinVar
PAH	P00439	p.Asp222Val	RCV000089027	missense variant	-	NC_000012.12:g.102855177T>A	ClinVar
PAH	P00439	p.Asp222Gly	rs62507319	missense variant	-	NC_000012.12:g.102855177T>C	-
PAH	P00439	p.Asp222Val	rs62507319	missense variant	-	NC_000012.12:g.102855177T>A	-
PAH	P00439	p.Asp222Glu	rs1263259211	missense variant	-	NC_000012.12:g.102855176A>C	TOPMed
PAH	P00439	p.Asp222Gly	RCV000089026	missense variant	-	NC_000012.12:g.102855177T>C	ClinVar
PAH	P00439	p.Asn223Ile	RCV000664486	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855174T>A	ClinVar
PAH	P00439	p.Asn223Ile	rs201245932	missense variant	-	NC_000012.12:g.102855174T>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Asn223Ser	rs201245932	missense variant	-	NC_000012.12:g.102855174T>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile224Met	RCV000089029	missense variant	-	NC_000012.12:g.102855170A>C	ClinVar
PAH	P00439	p.Ile224Thr	RCV000089028	missense variant	-	NC_000012.12:g.102855171A>G	ClinVar
PAH	P00439	p.Ile224Met	rs199475576	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855170A>C	UniProt,dbSNP
PAH	P00439	p.Ile224Met	VAR_000935	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855170A>C	UniProt
PAH	P00439	p.Ile224Met	rs199475576	missense variant	-	NC_000012.12:g.102855170A>C	-
PAH	P00439	p.Ile224Thr	rs62507323	missense variant	-	NC_000012.12:g.102855171A>G	-
PAH	P00439	p.Pro225Ala	RCV000089031	missense variant	-	NC_000012.12:g.102855169G>C	ClinVar
PAH	P00439	p.Pro225Thr	RCV000673267	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855169G>T	ClinVar
PAH	P00439	p.Pro225Arg	rs62517204	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855168G>C	UniProt,dbSNP
PAH	P00439	p.Pro225Arg	VAR_000936	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855168G>C	UniProt
PAH	P00439	p.Pro225Arg	rs62517204	missense variant	-	NC_000012.12:g.102855168G>C	ExAC,gnomAD
PAH	P00439	p.Pro225Ala	rs199475589	missense variant	-	NC_000012.12:g.102855169G>C	-
PAH	P00439	p.Pro225Leu	rs62517204	missense variant	-	NC_000012.12:g.102855168G>A	ExAC,gnomAD
PAH	P00439	p.Pro225Thr	rs199475589	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855169G>T	UniProt,dbSNP
PAH	P00439	p.Pro225Thr	VAR_000937	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855169G>T	UniProt
PAH	P00439	p.Pro225Thr	rs199475589	missense variant	-	NC_000012.12:g.102855169G>T	-
PAH	P00439	p.Pro225Arg	RCV000089032	missense variant	-	NC_000012.12:g.102855168G>C	ClinVar
PAH	P00439	p.Gln226His	rs62508615	missense variant	-	NC_000012.12:g.102855164C>A	ExAC,gnomAD
PAH	P00439	p.Gln226His	rs62508615	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855164C>G	UniProt,dbSNP
PAH	P00439	p.Gln226His	VAR_068003	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855164C>G	UniProt
PAH	P00439	p.Gln226His	rs62508615	missense variant	-	NC_000012.12:g.102855164C>G	ExAC,gnomAD
PAH	P00439	p.Gln226Ter	rs62508696	stop gained	-	NC_000012.12:g.102855166G>A	-
PAH	P00439	p.Gln226Ter	RCV000089033	nonsense	-	NC_000012.12:g.102855166G>A	ClinVar
PAH	P00439	p.Gln226His	RCV000089034	missense variant	-	NC_000012.12:g.102855164C>G	ClinVar
PAH	P00439	p.Glu228Lys	RCV000106365	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855160C>T	ClinVar
PAH	P00439	p.Glu228Lys	rs281865444	missense variant	-	NC_000012.12:g.102855160C>T	gnomAD
PAH	P00439	p.Asp229Ter	RCV000699420	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102855156dup	ClinVar
PAH	P00439	p.Val230Ala	RCV000673567	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855153A>G	ClinVar
PAH	P00439	p.Val230Gly	RCV000089036	missense variant	-	NC_000012.12:g.102855153A>C	ClinVar
PAH	P00439	p.Val230Ile	RCV000411829	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855154C>T	ClinVar
PAH	P00439	p.Val230Gly	rs199475673	missense variant	-	NC_000012.12:g.102855153A>C	-
PAH	P00439	p.Val230Ala	rs199475673	missense variant	-	NC_000012.12:g.102855153A>G	-
PAH	P00439	p.Val230Ile	rs62516152	missense variant	-	NC_000012.12:g.102855154C>T	UniProt,dbSNP
PAH	P00439	p.Val230Ile	VAR_000938	missense variant	-	NC_000012.12:g.102855154C>T	UniProt
PAH	P00439	p.Val230Ile	rs62516152	missense variant	-	NC_000012.12:g.102855154C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Val230Ile	RCV000089035	missense variant	-	NC_000012.12:g.102855154C>T	ClinVar
PAH	P00439	p.Ser231Phe	rs62508577	missense variant	-	NC_000012.12:g.102855150G>A	-
PAH	P00439	p.Ser231Pro	RCV000089037	missense variant	-	NC_000012.12:g.102855151A>G	ClinVar
PAH	P00439	p.Ser231Pro	rs5030845	missense variant	-	NC_000012.12:g.102855151A>G	-
PAH	P00439	p.Ser231Phe	RCV000089038	missense variant	-	NC_000012.12:g.102855150G>A	ClinVar
PAH	P00439	p.Gln232Ter	rs62507348	stop gained	-	NC_000012.12:g.102855148G>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Gln232Glu	RCV000758123	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855148G>C	ClinVar
PAH	P00439	p.Gln232Ter	RCV000169464	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102855148G>A	ClinVar
PAH	P00439	p.Gln232His	rs1126758	missense variant	-	NC_000012.12:g.102855146C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Phe233Ser	rs1420897175	missense variant	-	NC_000012.12:g.102855144A>G	TOPMed
PAH	P00439	p.Phe233Leu	rs62517208	missense variant	-	NC_000012.12:g.102855143G>T	-
PAH	P00439	p.Phe233Leu	rs62517208	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855143G>T	UniProt,dbSNP
PAH	P00439	p.Phe233Leu	VAR_000940	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855143G>T	UniProt
PAH	P00439	p.Phe233Leu	RCV000089041	missense variant	-	NC_000012.12:g.102855143G>T	ClinVar
PAH	P00439	p.Phe233Ile	RCV000758127	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102855145A>T	ClinVar
PAH	P00439	p.Gln235Pro	RCV000089042	missense variant	-	NC_000012.12:g.102855138T>G	ClinVar
PAH	P00439	p.Gln235Pro	rs199475656	missense variant	-	NC_000012.12:g.102855138T>G	-
PAH	P00439	p.Gln235Lys	rs1237792711	missense variant	-	NC_000012.12:g.102855139G>T	gnomAD
PAH	P00439	p.Gln235Ter	rs1237792711	stop gained	-	NC_000012.12:g.102855139G>A	gnomAD
PAH	P00439	p.Thr236Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102855136T>A	NCI-TCGA
PAH	P00439	p.Cys237Arg	rs372723640	missense variant	-	NC_000012.12:g.102852948A>G	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Thr238Ala	RCV000758131	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852945T>C	ClinVar
PAH	P00439	p.Thr238Pro	RCV000672442	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852945T>G	ClinVar
PAH	P00439	p.Thr238Pro	rs199475577	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852945T>G	UniProt,dbSNP
PAH	P00439	p.Thr238Pro	VAR_000941	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852945T>G	UniProt
PAH	P00439	p.Thr238Pro	rs199475577	missense variant	-	NC_000012.12:g.102852945T>G	-
PAH	P00439	p.Gly239Val	RCV000089051	missense variant	-	NC_000012.12:g.102852941C>A	ClinVar
PAH	P00439	p.Gly239Asp	RCV000089049	missense variant	-	NC_000012.12:g.102852941C>T	ClinVar
PAH	P00439	p.Gly239Ala	rs62507283	missense variant	-	NC_000012.12:g.102852941C>G	-
PAH	P00439	p.Gly239Val	rs62507283	missense variant	-	NC_000012.12:g.102852941C>A	-
PAH	P00439	p.Gly239Ser	RCV000089048	missense variant	-	NC_000012.12:g.102852942C>T	ClinVar
PAH	P00439	p.Gly239Asp	rs62507283	missense variant	-	NC_000012.12:g.102852941C>T	-
PAH	P00439	p.Gly239Ala	RCV000089050	missense variant	-	NC_000012.12:g.102852941C>G	ClinVar
PAH	P00439	p.Gly239Ser	rs62517178	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852942C>T	UniProt,dbSNP
PAH	P00439	p.Gly239Ser	VAR_000942	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852942C>T	UniProt
PAH	P00439	p.Gly239Ser	rs62517178	missense variant	-	NC_000012.12:g.102852942C>T	-
PAH	P00439	p.Phe240Val	rs62507337	missense variant	-	NC_000012.12:g.102852939A>C	-
PAH	P00439	p.Phe240Ser	rs62508594	missense variant	-	NC_000012.12:g.102852938A>G	-
PAH	P00439	p.Phe240Val	RCV000667600	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852939A>C	ClinVar
PAH	P00439	p.Phe240Ser	RCV000089053	missense variant	-	NC_000012.12:g.102852938A>G	ClinVar
PAH	P00439	p.Arg241Ter	RCV000169560	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852935del	ClinVar
PAH	P00439	p.Arg241Leu	RCV000089056	missense variant	-	NC_000012.12:g.102852935C>A	ClinVar
PAH	P00439	p.Arg241Ter	RCV000454199	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852935del	ClinVar
PAH	P00439	p.Arg241Cys	RCV000089054	missense variant	-	NC_000012.12:g.102852936G>A	ClinVar
PAH	P00439	p.Arg241Cys	RCV000153635	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852936G>A	ClinVar
PAH	P00439	p.Arg241Ter	RCV000089057	frameshift	-	NC_000012.12:g.102852935del	ClinVar
PAH	P00439	p.Arg241Cys	rs76687508	missense variant	-	NC_000012.12:g.102852936G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg241His	rs62508730	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>T	UniProt,dbSNP
PAH	P00439	p.Arg241His	VAR_000944	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>T	UniProt
PAH	P00439	p.Arg241His	rs62508730	missense variant	-	NC_000012.12:g.102852935C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg241His	RCV000089055	missense variant	-	NC_000012.12:g.102852935C>T	ClinVar
PAH	P00439	p.Arg241His	RCV000576386	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>T	ClinVar
PAH	P00439	p.Arg241Leu	rs62508730	missense variant	-	NC_000012.12:g.102852935C>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg241Leu	rs62508730	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>A	UniProt,dbSNP
PAH	P00439	p.Arg241Leu	VAR_000945	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852935C>A	UniProt
PAH	P00439	p.Leu242Phe	RCV000411222	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852933G>A	ClinVar
PAH	P00439	p.Leu242Phe	rs199475578	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852933G>A	UniProt,dbSNP
PAH	P00439	p.Leu242Phe	VAR_000946	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852933G>A	UniProt
PAH	P00439	p.Leu242Phe	rs199475578	missense variant	-	NC_000012.12:g.102852933G>A	-
PAH	P00439	p.Arg243Gln	RCV000624337	missense variant	Inborn genetic diseases	NC_000012.12:g.102852929C>T	ClinVar
PAH	P00439	p.Arg243Gln	RCV000000622	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852929C>T	ClinVar
PAH	P00439	p.Arg243Gln	RCV000089059	missense variant	-	NC_000012.12:g.102852929C>T	ClinVar
PAH	P00439	p.Arg243Ter	rs5030846	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102852930G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg243Gln	rs62508588	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852929C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg243Leu	rs62508588	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852929C>A	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg243Leu	RCV000089060	missense variant	-	NC_000012.12:g.102852929C>A	ClinVar
PAH	P00439	p.Arg243Ter	RCV000078528	nonsense	-	NC_000012.12:g.102852930G>A	ClinVar
PAH	P00439	p.Arg243Ter	RCV000000619	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102852930G>A	ClinVar
PAH	P00439	p.Pro244Leu	rs118203923	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852926G>A	ExAC,gnomAD
PAH	P00439	p.Pro244Leu	RCV000089061	missense variant	-	NC_000012.12:g.102852926G>A	ClinVar
PAH	P00439	p.Val245Leu	RCV000340479	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852924C>G	ClinVar
PAH	P00439	p.Val245Glu	RCV000632879	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852923A>T	ClinVar
PAH	P00439	p.Val245Ala	RCV000186078	missense variant	-	NC_000012.12:g.102852922_102852923inv	ClinVar
PAH	P00439	p.Val245Met	rs62508694	missense variant	-	NC_000012.12:g.102852924C>T	ExAC,gnomAD
PAH	P00439	p.Val245Ala	rs76212747	missense variant	-	NC_000012.12:g.102852923A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Val245Met	RCV000089062	missense variant	-	NC_000012.12:g.102852924C>T	ClinVar
PAH	P00439	p.Val245Ala	RCV000148724	missense variant	Hyperphenylalaninaemia	NC_000012.12:g.102852923A>G	ClinVar
PAH	P00439	p.Val245Glu	rs76212747	missense variant	-	NC_000012.12:g.102852923A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Val245Leu	rs62508694	missense variant	-	NC_000012.12:g.102852924C>G	ExAC,gnomAD
PAH	P00439	p.Val245Leu	rs62508694	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852924C>G	UniProt,dbSNP
PAH	P00439	p.Val245Leu	VAR_000951	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852924C>G	UniProt
PAH	P00439	p.Val245Ala	rs796052017	missense variant	-	NC_000012.12:g.102852922_102852923inv	-
PAH	P00439	p.Val245Glu	rs76212747	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852923A>T	UniProt,dbSNP
PAH	P00439	p.Val245Glu	VAR_000950	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852923A>T	UniProt
PAH	P00439	p.Val245Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102852924C>A	NCI-TCGA
PAH	P00439	p.Ala246Asp	RCV000089067	missense variant	-	NC_000012.12:g.102852920G>T	ClinVar
PAH	P00439	p.Ala246Ter	RCV000089069	frameshift	-	NC_000012.12:g.102852920del	ClinVar
PAH	P00439	p.Ala246Ter	RCV000543254	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852920del	ClinVar
PAH	P00439	p.Ala246Val	RCV000089068	missense variant	-	NC_000012.12:g.102852920G>A	ClinVar
PAH	P00439	p.Ala246Val	rs199475610	missense variant	-	NC_000012.12:g.102852920G>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala246Asp	rs199475610	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852920G>T	UniProt,dbSNP
PAH	P00439	p.Ala246Asp	VAR_000952	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852920G>T	UniProt
PAH	P00439	p.Ala246Asp	rs199475610	missense variant	-	NC_000012.12:g.102852920G>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala246Pro	rs1372655774	missense variant	-	NC_000012.12:g.102852921C>G	gnomAD
PAH	P00439	p.Gly247Val	RCV000089073	missense variant	-	NC_000012.12:g.102852917C>A	ClinVar
PAH	P00439	p.Gly247Arg	RCV000089071	missense variant	-	NC_000012.12:g.102852918C>G	ClinVar
PAH	P00439	p.Gly247Asp	RCV000758103	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852917C>T	ClinVar
PAH	P00439	p.Gly247Arg	rs62508731	missense variant	-	NC_000012.12:g.102852918C>G	-
PAH	P00439	p.Gly247Ser	rs62508731	missense variant	-	NC_000012.12:g.102852918C>T	-
PAH	P00439	p.Gly247Val	rs199475579	missense variant	-	NC_000012.12:g.102852917C>A	ExAC,gnomAD
PAH	P00439	p.Gly247Val	rs199475579	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852917C>A	UniProt,dbSNP
PAH	P00439	p.Gly247Val	VAR_000953	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852917C>A	UniProt
PAH	P00439	p.Gly247Asp	rs199475579	missense variant	-	NC_000012.12:g.102852917C>T	ExAC,gnomAD
PAH	P00439	p.Gly247Ser	RCV000758094	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852918C>T	ClinVar
PAH	P00439	p.Leu248Pro	RCV000089074	missense variant	-	NC_000012.12:g.102852914A>G	ClinVar
PAH	P00439	p.Leu248Arg	rs62507340	missense variant	-	NC_000012.12:g.102852914A>C	-
PAH	P00439	p.Leu248Pro	rs62507340	missense variant	-	NC_000012.12:g.102852914A>G	-
PAH	P00439	p.Leu248Arg	RCV000089075	missense variant	-	NC_000012.12:g.102852914A>C	ClinVar
PAH	P00439	p.Leu249His	rs62507338	missense variant	-	NC_000012.12:g.102852911A>T	-
PAH	P00439	p.Leu249Phe	rs74503222	missense variant	-	NC_000012.12:g.102852912G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Leu249Phe	rs74503222	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852912G>A	UniProt,dbSNP
PAH	P00439	p.Leu249Phe	VAR_000955	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852912G>A	UniProt
PAH	P00439	p.Leu249His	RCV000089077	missense variant	-	NC_000012.12:g.102852911A>T	ClinVar
PAH	P00439	p.Leu249Ter	RCV000410522	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852912del	ClinVar
PAH	P00439	p.Leu249Phe	RCV000089076	missense variant	-	NC_000012.12:g.102852912G>A	ClinVar
PAH	P00439	p.Leu249Phe	RCV000153634	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852912G>A	ClinVar
PAH	P00439	p.Ser251Phe	rs369646949	missense variant	-	NC_000012.12:g.102852905G>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg252Gly	rs5030847	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852903G>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg252Trp	rs5030847	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852903G>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg252Trp	RCV000089079	missense variant	-	NC_000012.12:g.102852903G>A	ClinVar
PAH	P00439	p.Arg252Trp	RCV000000614	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852903G>A	ClinVar
PAH	P00439	p.Arg252Gln	RCV000179742	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852902C>T	ClinVar
PAH	P00439	p.Arg252Gln	rs62644503	missense variant	-	NC_000012.12:g.102852902C>T	gnomAD
PAH	P00439	p.Arg252Gly	RCV000674327	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852903G>C	ClinVar
PAH	P00439	p.Arg252Trp	RCV000201954	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852903G>A	ClinVar
PAH	P00439	p.Arg252Gln	RCV000089080	missense variant	-	NC_000012.12:g.102852902C>T	ClinVar
PAH	P00439	p.Asp253Asn	RCV000484615	missense variant	-	NC_000012.12:g.102852900C>T	ClinVar
PAH	P00439	p.Asp253Asn	rs765533320	missense variant	-	NC_000012.12:g.102852900C>T	ExAC,gnomAD
PAH	P00439	p.Phe254Ile	RCV000089081	missense variant	-	NC_000012.12:g.102852897A>T	ClinVar
PAH	P00439	p.Phe254Ile	rs62642909	missense variant	-	NC_000012.12:g.102852897A>T	-
PAH	P00439	p.Phe254Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102852895G>T	NCI-TCGA
PAH	P00439	p.Leu255Val	RCV000089082	missense variant	-	NC_000012.12:g.102852894A>C	ClinVar
PAH	P00439	p.Leu255Val	rs62642931	missense variant	-	NC_000012.12:g.102852894A>C	-
PAH	P00439	p.Leu255Val	rs62642931	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852894A>C	UniProt,dbSNP
PAH	P00439	p.Leu255Val	VAR_000959	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852894A>C	UniProt
PAH	P00439	p.Leu255Ser	rs62642930	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852893A>G	-
PAH	P00439	p.Leu255Ser	rs62642930	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852893A>G	UniProt,dbSNP
PAH	P00439	p.Leu255Ser	VAR_000960	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852893A>G	UniProt
PAH	P00439	p.Leu255Ser	RCV000000631	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852893A>G	ClinVar
PAH	P00439	p.Gly256Cys	rs1420712008	missense variant	-	NC_000012.12:g.102852891C>A	gnomAD
PAH	P00439	p.Gly257Cys	rs5030848	missense variant	-	NC_000012.12:g.102852888C>A	-
PAH	P00439	p.Gly257Ser	RCV000089084	missense variant	-	NC_000012.12:g.102852888C>T	ClinVar
PAH	P00439	p.Gly257Cys	RCV000089085	missense variant	-	NC_000012.12:g.102852888C>A	ClinVar
PAH	P00439	p.Gly257Asp	rs62642908	missense variant	-	NC_000012.12:g.102852887C>T	-
PAH	P00439	p.Gly257Ser	rs5030848	missense variant	-	NC_000012.12:g.102852888C>T	-
PAH	P00439	p.Gly257Val	rs62642908	missense variant	-	NC_000012.12:g.102852887C>A	-
PAH	P00439	p.Gly257Asp	RCV000089086	missense variant	-	NC_000012.12:g.102852887C>T	ClinVar
PAH	P00439	p.Gly257Val	RCV000668413	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852887C>A	ClinVar
PAH	P00439	p.Leu258Pro	RCV000758119	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852884A>G	ClinVar
PAH	P00439	p.Ala259Val	RCV000089089	missense variant	-	NC_000012.12:g.102852881G>A	ClinVar
PAH	P00439	p.Ala259Thr	RCV000411173	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852882C>T	ClinVar
PAH	P00439	p.Ala259Val	rs118203921	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852881G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala259Thr	rs62642932	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852882C>T	UniProt,dbSNP
PAH	P00439	p.Ala259Thr	VAR_000962	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852882C>T	UniProt
PAH	P00439	p.Ala259Thr	rs62642932	missense variant	-	NC_000012.12:g.102852882C>T	ExAC,gnomAD
PAH	P00439	p.Ala259Val	rs118203921	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852881G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala259Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102852882C>A	NCI-TCGA
PAH	P00439	p.Arg261Gln	RCV000000612	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852875C>T	ClinVar
PAH	P00439	p.Arg261Gly	RCV000119826	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852876G>C	ClinVar
PAH	P00439	p.Arg261Ter	RCV000089090	nonsense	-	NC_000012.12:g.102852876G>A	ClinVar
PAH	P00439	p.Arg261Leu	rs5030849	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852875C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg261Gly	rs5030850	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852876G>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg261Pro	rs5030849	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852875C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg261Gln	rs5030849	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852875C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg261Ter	rs5030850	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102852876G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg261Ter	RCV000000641	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102852876G>A	ClinVar
PAH	P00439	p.Arg261Gln	RCV000078530	missense variant	-	NC_000012.12:g.102852875C>T	ClinVar
PAH	P00439	p.Arg261Pro	RCV000410877	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852875C>G	ClinVar
PAH	P00439	p.Val262Gly	RCV000106366	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852872A>C	ClinVar
PAH	P00439	p.Val262Gly	rs281865445	missense variant	-	NC_000012.12:g.102852872A>C	-
PAH	P00439	p.Phe263Leu	RCV000758091	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852868G>C	ClinVar
PAH	P00439	p.Phe263Ser	RCV000758097	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852869A>G	ClinVar
PAH	P00439	p.Phe263Leu	rs62642944	missense variant	-	NC_000012.12:g.102852868G>C	ExAC,gnomAD
PAH	P00439	p.Phe263Leu	rs62642944	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852868G>C	UniProt,dbSNP
PAH	P00439	p.Phe263Leu	VAR_000966	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852868G>C	UniProt
PAH	P00439	p.His264Leu	RCV000089093	missense variant	-	NC_000012.12:g.102852866T>A	ClinVar
PAH	P00439	p.His264Tyr	rs749668037	missense variant	-	NC_000012.12:g.102852867G>A	ExAC,gnomAD
PAH	P00439	p.His264Leu	rs199475580	missense variant	-	NC_000012.12:g.102852866T>A	-
PAH	P00439	p.His264Leu	rs199475580	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852866T>A	UniProt,dbSNP
PAH	P00439	p.His264Leu	VAR_000967	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852866T>A	UniProt
PAH	P00439	p.His264Ter	RCV000409667	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852868del	ClinVar
PAH	P00439	p.Cys265Ter	rs1231529155	stop gained	-	NC_000012.12:g.102852862G>T	TOPMed,gnomAD
PAH	P00439	p.Cys265Arg	rs62517181	missense variant	-	NC_000012.12:g.102852864A>G	TOPMed
PAH	P00439	p.Cys265Tyr	RCV000810805	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852863C>T	ClinVar
PAH	P00439	p.Cys265Gly	rs62517181	missense variant	-	NC_000012.12:g.102852864A>C	TOPMed
PAH	P00439	p.Cys265Gly	rs62517181	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852864A>C	UniProt,dbSNP
PAH	P00439	p.Cys265Gly	VAR_000968	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852864A>C	UniProt
PAH	P00439	p.Cys265Tyr	rs62507335	missense variant	-	NC_000012.12:g.102852863C>T	-
PAH	P00439	p.Cys265Gly	RCV000089094	missense variant	-	NC_000012.12:g.102852864A>C	ClinVar
PAH	P00439	p.Thr266Pro	rs62508752	missense variant	-	NC_000012.12:g.102852861T>G	-
PAH	P00439	p.Thr266Ala	rs62508752	missense variant	-	NC_000012.12:g.102852861T>C	-
PAH	P00439	p.Thr266Lys	rs62508753	missense variant	-	NC_000012.12:g.102852860G>T	-
PAH	P00439	p.Thr266Ala	RCV000089096	missense variant	-	NC_000012.12:g.102852861T>C	ClinVar
PAH	P00439	p.Thr266Lys	RCV000089097	missense variant	-	NC_000012.12:g.102852860G>T	ClinVar
PAH	P00439	p.Thr266Pro	RCV000106367	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852861T>G	ClinVar
PAH	P00439	p.Gln267Glu	RCV000089098	missense variant	-	NC_000012.12:g.102852858G>C	ClinVar
PAH	P00439	p.Gln267His	RCV000758096	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852856C>G	ClinVar
PAH	P00439	p.Gln267Leu	rs778154939	missense variant	-	NC_000012.12:g.102852857T>A	ExAC,gnomAD
PAH	P00439	p.Gln267His	rs199475675	missense variant	-	NC_000012.12:g.102852856C>A	ExAC,gnomAD
PAH	P00439	p.Gln267Arg	RCV000672289	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852857T>C	ClinVar
PAH	P00439	p.Gln267His	rs199475675	missense variant	-	NC_000012.12:g.102852856C>G	ExAC,gnomAD
PAH	P00439	p.Gln267Arg	rs778154939	missense variant	-	NC_000012.12:g.102852857T>C	ExAC,gnomAD
PAH	P00439	p.Gln267Leu	RCV000210763	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852857T>A	ClinVar
PAH	P00439	p.Gln267Glu	rs199475676	missense variant	-	NC_000012.12:g.102852858G>C	-
PAH	P00439	p.Tyr268His	RCV000758117	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852855A>G	ClinVar
PAH	P00439	p.Tyr268His	rs62507263	missense variant	-	NC_000012.12:g.102852855A>G	gnomAD
PAH	P00439	p.Tyr268Cys	RCV000758130	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852854T>C	ClinVar
PAH	P00439	p.Ile269Asn	RCV000763291	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852851A>T	ClinVar
PAH	P00439	p.Ile269Asn	RCV000089102	missense variant	-	NC_000012.12:g.102852851A>T	ClinVar
PAH	P00439	p.Ile269Val	rs62508692	missense variant	-	NC_000012.12:g.102852852T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile269Leu	rs62508692	missense variant	-	NC_000012.12:g.102852852T>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile269Leu	rs62508692	missense variant	-	NC_000012.12:g.102852852T>G	UniProt,dbSNP
PAH	P00439	p.Ile269Leu	VAR_000969	missense variant	-	NC_000012.12:g.102852852T>G	UniProt
PAH	P00439	p.Ile269Leu	RCV000281383	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852852T>G	ClinVar
PAH	P00439	p.Ile269Asn	rs199475644	missense variant	-	NC_000012.12:g.102852851A>T	-
PAH	P00439	p.Ile269Ter	RCV000153633	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852851del	ClinVar
PAH	P00439	p.Ile269Leu	RCV000089101	missense variant	-	NC_000012.12:g.102852852T>G	ClinVar
PAH	P00439	p.Ile269Ter	RCV000089103	frameshift	-	NC_000012.12:g.102852851del	ClinVar
PAH	P00439	p.Arg270Gly	RCV000089104	missense variant	-	NC_000012.12:g.102852849T>C	ClinVar
PAH	P00439	p.Arg270Lys	rs62514950	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852848C>T	UniProt,dbSNP
PAH	P00439	p.Arg270Lys	VAR_000970	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852848C>T	UniProt
PAH	P00439	p.Arg270Lys	rs62514950	missense variant	-	NC_000012.12:g.102852848C>T	ExAC,gnomAD
PAH	P00439	p.Arg270Ser	rs62514951	missense variant	-	NC_000012.12:g.102852847T>A	-
PAH	P00439	p.Arg270Gly	rs199475690	missense variant	-	NC_000012.12:g.102852849T>C	-
PAH	P00439	p.Arg270Ser	rs62514951	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852847T>A	UniProt,dbSNP
PAH	P00439	p.Arg270Ser	VAR_000971	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852847T>A	UniProt
PAH	P00439	p.Arg270Lys	RCV000089105	missense variant	-	NC_000012.12:g.102852848C>T	ClinVar
PAH	P00439	p.Arg270Ser	RCV000089106	missense variant	-	NC_000012.12:g.102852847T>A	ClinVar
PAH	P00439	p.Arg270Lys	RCV000153632	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852848C>T	ClinVar
PAH	P00439	p.Arg270Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102852848C>G	NCI-TCGA
PAH	P00439	p.His271Leu	RCV000106368	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852845T>A	ClinVar
PAH	P00439	p.His271Tyr	RCV000758116	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852846G>A	ClinVar
PAH	P00439	p.His271Arg	RCV000758132	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852845T>C	ClinVar
PAH	P00439	p.His271Arg	rs199475692	missense variant	-	NC_000012.12:g.102852845T>C	ExAC,gnomAD
PAH	P00439	p.His271Ter	RCV000089107	frameshift	-	NC_000012.12:g.102852844_102852848del	ClinVar
PAH	P00439	p.His271Leu	rs199475692	missense variant	-	NC_000012.12:g.102852845T>A	ExAC,gnomAD
PAH	P00439	p.His271Tyr	rs62517164	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852846G>A	UniProt,dbSNP
PAH	P00439	p.His271Tyr	VAR_000972	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852846G>A	UniProt
PAH	P00439	p.His271Tyr	rs62517164	missense variant	-	NC_000012.12:g.102852846G>A	ESP,ExAC,TOPMed
PAH	P00439	p.His271Gln	RCV000758104	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852844A>C	ClinVar
PAH	P00439	p.Gly272Ter	rs62514952	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102852843C>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Gly272Ter	RCV000089110	nonsense	-	NC_000012.12:g.102852843C>A	ClinVar
PAH	P00439	p.Gly272Ter	RCV000000627	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102852843C>A	ClinVar
PAH	P00439	p.Gly272Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102852843C>T	NCI-TCGA
PAH	P00439	p.Ser273Phe	RCV000000629	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852839G>A	ClinVar
PAH	P00439	p.Ser273Phe	rs62514953	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852839G>A	UniProt,dbSNP
PAH	P00439	p.Ser273Phe	VAR_000973	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852839G>A	UniProt
PAH	P00439	p.Ser273Phe	rs62514953	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852839G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ser273Pro	RCV000758093	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852840A>G	ClinVar
PAH	P00439	p.Lys274Met	COSM3398262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102852836T>A	NCI-TCGA Cosmic
PAH	P00439	p.Lys274Ter	RCV000089113	frameshift	-	NC_000012.12:g.102852826_102852836del	ClinVar
PAH	P00439	p.Lys274Asn	rs1160691269	missense variant	-	NC_000012.12:g.102852835C>G	gnomAD
PAH	P00439	p.Lys274Glu	rs142934616	missense variant	-	NC_000012.12:g.102852837T>C	UniProt,dbSNP
PAH	P00439	p.Lys274Glu	VAR_011573	missense variant	-	NC_000012.12:g.102852837T>C	UniProt
PAH	P00439	p.Lys274Glu	rs142934616	missense variant	-	NC_000012.12:g.102852837T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Lys274Glu	RCV000089112	missense variant	-	NC_000012.12:g.102852837T>C	ClinVar
PAH	P00439	p.Lys274Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102852836T>G	NCI-TCGA
PAH	P00439	p.Pro275Ser	rs62508691	missense variant	-	NC_000012.12:g.102852834G>A	ESP
PAH	P00439	p.Pro275Arg	rs62508715	missense variant	-	NC_000012.12:g.102852833G>C	-
PAH	P00439	p.Pro275Leu	RCV000670910	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852833G>A	ClinVar
PAH	P00439	p.Pro275Arg	RCV000089115	missense variant	-	NC_000012.12:g.102852833G>C	ClinVar
PAH	P00439	p.Pro275Ser	RCV000672603	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852834G>A	ClinVar
PAH	P00439	p.Pro275Leu	rs62508715	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852833G>A	UniProt,dbSNP
PAH	P00439	p.Pro275Leu	VAR_068004	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852833G>A	UniProt
PAH	P00439	p.Pro275Leu	rs62508715	missense variant	-	NC_000012.12:g.102852833G>A	-
PAH	P00439	p.Met276Val	RCV000664652	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852831T>C	ClinVar
PAH	P00439	p.Met276Ile	RCV000666601	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852829C>T	ClinVar
PAH	P00439	p.Met276Ile	rs62514954	missense variant	-	NC_000012.12:g.102852829C>T	TOPMed,gnomAD
PAH	P00439	p.Met276Ile	rs62514954	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852829C>A	UniProt,dbSNP
PAH	P00439	p.Met276Ile	VAR_000974	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852829C>A	UniProt
PAH	P00439	p.Met276Ile	rs62514954	missense variant	-	NC_000012.12:g.102852829C>A	TOPMed,gnomAD
PAH	P00439	p.Met276Val	rs62516149	missense variant	-	NC_000012.12:g.102852831T>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Met276Lys	rs62508722	missense variant	-	NC_000012.12:g.102852830A>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Met276Val	rs62516149	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852831T>C	UniProt,dbSNP
PAH	P00439	p.Met276Val	VAR_000975	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852831T>C	UniProt
PAH	P00439	p.Met276Thr	rs62508722	missense variant	-	NC_000012.12:g.102852830A>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Met276Leu	rs62516149	missense variant	-	NC_000012.12:g.102852831T>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Met276Arg	rs62508722	missense variant	-	NC_000012.12:g.102852830A>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Met276Lys	RCV000758121	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852830A>T	ClinVar
PAH	P00439	p.Met276Arg	RCV000089119	missense variant	-	NC_000012.12:g.102852830A>C	ClinVar
PAH	P00439	p.Met276Ile	RCV000089120	missense variant	-	NC_000012.12:g.102852829C>A	ClinVar
PAH	P00439	p.Tyr277Asp	RCV000078531	missense variant	-	NC_000012.12:g.102852828A>C	ClinVar
PAH	P00439	p.Tyr277Asp	RCV000000634	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852828A>C	ClinVar
PAH	P00439	p.Tyr277Asp	rs78655458	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852828A>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr277Cys	rs62516155	missense variant	-	NC_000012.12:g.102852827T>C	ExAC,gnomAD
PAH	P00439	p.Tyr277Cys	rs62516155	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852827T>C	UniProt,dbSNP
PAH	P00439	p.Tyr277Cys	VAR_000976	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852827T>C	UniProt
PAH	P00439	p.Tyr277Cys	RCV000411640	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852827T>C	ClinVar
PAH	P00439	p.Thr278Ala	RCV000089122	missense variant	-	NC_000012.12:g.102852825T>C	ClinVar
PAH	P00439	p.Thr278Asn	rs62507262	missense variant	-	NC_000012.12:g.102852824G>T	-
PAH	P00439	p.Thr278Ile	rs62507262	missense variant	-	NC_000012.12:g.102852824G>A	-
PAH	P00439	p.Thr278Ala	rs62516156	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852825T>C	UniProt,dbSNP
PAH	P00439	p.Thr278Ala	VAR_000978	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852825T>C	UniProt
PAH	P00439	p.Thr278Ala	rs62516156	missense variant	-	NC_000012.12:g.102852825T>C	-
PAH	P00439	p.Thr278Asn	RCV000089123	missense variant	-	NC_000012.12:g.102852824G>T	ClinVar
PAH	P00439	p.Thr278Ile	RCV000672785	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852824G>A	ClinVar
PAH	P00439	p.Pro279Leu	RCV000190377	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852821G>A	ClinVar
PAH	P00439	p.Pro279Leu	rs796064503	missense variant	-	NC_000012.12:g.102852821G>A	-
PAH	P00439	p.Pro279Ala	rs1555204441	missense variant	-	NC_000012.12:g.102852822G>C	-
PAH	P00439	p.Pro279Ala	RCV000551613	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852822G>C	ClinVar
PAH	P00439	p.Glu280Ter	RCV000089128	frameshift	-	NC_000012.12:g.102852817_102852818insA	ClinVar
PAH	P00439	p.Glu280Ter	RCV000106369	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102852824del	ClinVar
PAH	P00439	p.Glu280Gln	RCV000089125	missense variant	-	NC_000012.12:g.102852819C>G	ClinVar
PAH	P00439	p.Glu280Lys	RCV000000610	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852819C>T	ClinVar
PAH	P00439	p.Glu280Lys	rs62508698	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852819C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Glu280Gln	rs62508698	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852819C>G	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Glu280Lys	rs62508698	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852819C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Glu280Lys	rs62508698	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852819C>T	UniProt,dbSNP
PAH	P00439	p.Glu280Lys	VAR_000980	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852819C>T	UniProt
PAH	P00439	p.Glu280Gly	rs62508734	missense variant	-	NC_000012.12:g.102852818T>C	-
PAH	P00439	p.Glu280Gly	RCV000632877	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852818T>C	ClinVar
PAH	P00439	p.Glu280Lys	RCV000078532	missense variant	-	NC_000012.12:g.102852819C>T	ClinVar
PAH	P00439	p.Pro281Ala	RCV000106370	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852816G>C	ClinVar
PAH	P00439	p.Pro281Ser	RCV000721177	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852816G>A	ClinVar
PAH	P00439	p.Pro281Leu	RCV000000620	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102852815G>A	ClinVar
PAH	P00439	p.Pro281Leu	rs5030851	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102852815G>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Pro281Ser	rs199475654	missense variant	-	NC_000012.12:g.102852816G>A	ExAC,gnomAD
PAH	P00439	p.Pro281Ala	rs199475654	missense variant	-	NC_000012.12:g.102852816G>C	ExAC,gnomAD
PAH	P00439	p.Asp282Gly	RCV000089136	missense variant	-	NC_000012.12:g.102851754T>C	ClinVar
PAH	P00439	p.Asp282Asn	RCV000411380	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851755C>T	ClinVar
PAH	P00439	p.Asp282Gly	rs199475660	missense variant	-	NC_000012.12:g.102851754T>C	-
PAH	P00439	p.Asp282Asn	rs199475582	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851755C>T	UniProt,dbSNP
PAH	P00439	p.Asp282Asn	VAR_000982	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851755C>T	UniProt
PAH	P00439	p.Asp282Asn	rs199475582	missense variant	-	NC_000012.12:g.102851755C>T	ExAC,gnomAD
PAH	P00439	p.Ile283Phe	RCV000169005	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851752T>A	ClinVar
PAH	P00439	p.Ile283Phe	rs62517168	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851752T>A	UniProt,dbSNP
PAH	P00439	p.Ile283Phe	VAR_000983	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851752T>A	UniProt
PAH	P00439	p.Ile283Phe	rs62517168	missense variant	-	NC_000012.12:g.102851752T>A	ExAC,gnomAD
PAH	P00439	p.Ile283Asn	rs62508693	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851751A>T	UniProt,dbSNP
PAH	P00439	p.Ile283Asn	VAR_000984	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851751A>T	UniProt
PAH	P00439	p.Ile283Asn	rs62508693	missense variant	-	NC_000012.12:g.102851751A>T	TOPMed
PAH	P00439	p.Ile283Asn	RCV000758133	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851751A>T	ClinVar
PAH	P00439	p.Cys284Arg	RCV000089139	missense variant	-	NC_000012.12:g.102851749A>G	ClinVar
PAH	P00439	p.Cys284Arg	rs199475682	missense variant	-	NC_000012.12:g.102851749A>G	-
PAH	P00439	p.His285Tyr	RCV000089140	missense variant	-	NC_000012.12:g.102851746G>A	ClinVar
PAH	P00439	p.His285Tyr	rs199475636	missense variant	-	NC_000012.12:g.102851746G>A	-
PAH	P00439	p.Glu286Lys	rs62508739	missense variant	-	NC_000012.12:g.102851743C>T	ExAC,gnomAD
PAH	P00439	p.Glu286Ter	rs62508739	stop gained	-	NC_000012.12:g.102851743C>A	ExAC,gnomAD
PAH	P00439	p.Glu286Lys	RCV000758134	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851743C>T	ClinVar
PAH	P00439	p.Leu287Val	RCV000758129	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851740G>C	ClinVar
PAH	P00439	p.Leu287Met	rs781096854	missense variant	-	NC_000012.12:g.102851740G>T	ExAC,gnomAD
PAH	P00439	p.Leu287Val	rs781096854	missense variant	-	NC_000012.12:g.102851740G>C	ExAC,gnomAD
PAH	P00439	p.Leu288Phe	rs62507327	missense variant	-	NC_000012.12:g.102851735C>G	-
PAH	P00439	p.Leu288Phe	RCV000758112	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851735C>G	ClinVar
PAH	P00439	p.Gly289Arg	RCV000089143	missense variant	-	NC_000012.12:g.102851734C>G	ClinVar
PAH	P00439	p.Gly289Arg	RCV000548849	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851734C>T	ClinVar
PAH	P00439	p.Gly289Arg	rs199475693	missense variant	-	NC_000012.12:g.102851734C>T	TOPMed
PAH	P00439	p.Gly289Arg	rs199475693	missense variant	-	NC_000012.12:g.102851734C>G	TOPMed
PAH	P00439	p.His290Gln	RCV000674910	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851729A>C	ClinVar
PAH	P00439	p.His290Tyr	rs1486763160	missense variant	-	NC_000012.12:g.102851731G>A	gnomAD
PAH	P00439	p.His290Tyr	rs1486763160	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851731G>A	UniProt,dbSNP
PAH	P00439	p.His290Tyr	VAR_067758	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851731G>A	UniProt
PAH	P00439	p.His290Leu	rs62642919	missense variant	-	NC_000012.12:g.102851730T>A	-
PAH	P00439	p.His290Gln	rs751203209	missense variant	-	NC_000012.12:g.102851729A>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.His290Leu	RCV000106371	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851730T>A	ClinVar
PAH	P00439	p.His290Arg	RCV000089144	missense variant	-	NC_000012.12:g.102851730T>C	ClinVar
PAH	P00439	p.Pro292Ser	rs1245308538	missense variant	-	NC_000012.12:g.102851725G>A	gnomAD
PAH	P00439	p.Pro292Leu	rs1200240274	missense variant	-	NC_000012.12:g.102851724G>A	gnomAD
PAH	P00439	p.Pro292Leu	RCV000768445	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851724G>A	ClinVar
PAH	P00439	p.Leu293Phe	rs1188242574	missense variant	-	NC_000012.12:g.102851720C>G	TOPMed
PAH	P00439	p.Phe294Ile	RCV000700907	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851719A>T	ClinVar
PAH	P00439	p.Ser295Ter	rs62642910	stop gained	-	NC_000012.12:g.102851715G>C	-
PAH	P00439	p.Ser295Ter	RCV000089145	nonsense	-	NC_000012.12:g.102851715G>C	ClinVar
PAH	P00439	p.Asp296Gly	RCV000106372	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851712T>C	ClinVar
PAH	P00439	p.Asp296Asn	rs765934604	missense variant	-	NC_000012.12:g.102851713C>T	ExAC,gnomAD
PAH	P00439	p.Asp296Gly	rs281865446	missense variant	-	NC_000012.12:g.102851712T>C	-
PAH	P00439	p.Arg297Cys	rs62642945	missense variant	-	NC_000012.12:g.102851710G>A	ExAC,gnomAD
PAH	P00439	p.Arg297Cys	rs62642945	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851710G>A	UniProt,dbSNP
PAH	P00439	p.Arg297Cys	VAR_000985	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851710G>A	UniProt
PAH	P00439	p.Arg297His	rs62642939	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851709C>T	UniProt,dbSNP
PAH	P00439	p.Arg297His	VAR_000986	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851709C>T	UniProt
PAH	P00439	p.Arg297His	rs62642939	missense variant	-	NC_000012.12:g.102851709C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg297His	RCV000078535	missense variant	-	NC_000012.12:g.102851709C>T	ClinVar
PAH	P00439	p.Arg297His	RCV000150085	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851709C>T	ClinVar
PAH	P00439	p.Arg297His	RCV000588535	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102851709C>T	ClinVar
PAH	P00439	p.Arg297Cys	RCV000089146	missense variant	-	NC_000012.12:g.102851710G>A	ClinVar
PAH	P00439	p.Arg297Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102851710G>T	NCI-TCGA
PAH	P00439	p.Phe299Leu	RCV000190378	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851704A>G	ClinVar
PAH	P00439	p.Phe299Tyr	COSM6135541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102851703A>T	NCI-TCGA Cosmic
PAH	P00439	p.Phe299Cys	rs62642933	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102851703A>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Phe299Cys	rs62642933	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851703A>C	UniProt,dbSNP
PAH	P00439	p.Phe299Cys	VAR_000987	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851703A>C	UniProt
PAH	P00439	p.Phe299Leu	rs796064504	missense variant	-	NC_000012.12:g.102851704A>G	-
PAH	P00439	p.Phe299Cys	RCV000000644	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851703A>C	ClinVar
PAH	P00439	p.Ala300Ser	RCV000590551	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102851701C>A	ClinVar
PAH	P00439	p.Ala300Val	RCV000669088	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851700G>A	ClinVar
PAH	P00439	p.Ala300Ser	RCV000078536	missense variant	-	NC_000012.12:g.102851701C>A	ClinVar
PAH	P00439	p.Ala300Ser	rs5030853	missense variant	-	NC_000012.12:g.102851701C>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala300Val	rs199475609	missense variant	-	NC_000012.12:g.102851700G>A	-
PAH	P00439	p.Ala300Val	rs199475609	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851700G>A	UniProt,dbSNP
PAH	P00439	p.Ala300Val	VAR_000989	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851700G>A	UniProt
PAH	P00439	p.Ala300Ser	RCV000150084	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851701C>A	ClinVar
PAH	P00439	p.Gln301Lys	RCV000436688	missense variant	-	NC_000012.12:g.102851698G>T	ClinVar
PAH	P00439	p.Gln301Lys	rs1057520732	missense variant	-	NC_000012.12:g.102851698G>T	-
PAH	P00439	p.Ser303Ala	RCV000089152	missense variant	-	NC_000012.12:g.102851692A>C	ClinVar
PAH	P00439	p.Ser303Pro	RCV000089151	missense variant	-	NC_000012.12:g.102851692A>G	ClinVar
PAH	P00439	p.Ser303Phe	COSM3455200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102851691G>A	NCI-TCGA Cosmic
PAH	P00439	p.Ser303Ter	RCV000089150	frameshift	-	NC_000012.12:g.102851695del	ClinVar
PAH	P00439	p.Ser303Pro	rs199475608	missense variant	-	NC_000012.12:g.102851692A>G	-
PAH	P00439	p.Ser303Pro	rs199475608	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851692A>G	UniProt,dbSNP
PAH	P00439	p.Ser303Pro	VAR_000990	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851692A>G	UniProt
PAH	P00439	p.Ser303Ala	rs199475608	missense variant	-	NC_000012.12:g.102851692A>C	-
PAH	P00439	p.Gln304Arg	RCV000089153	missense variant	-	NC_000012.12:g.102851688T>C	ClinVar
PAH	P00439	p.Gln304Arg	rs199475592	missense variant	-	NC_000012.12:g.102851688T>C	-
PAH	P00439	p.Gln304Arg	rs199475592	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851688T>C	UniProt,dbSNP
PAH	P00439	p.Gln304Arg	VAR_000991	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102851688T>C	UniProt
PAH	P00439	p.Gln304Ter	rs1555204295	stop gained	-	NC_000012.12:g.102851689G>A	-
PAH	P00439	p.Gln304Ter	RCV000674358	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102851689G>A	ClinVar
PAH	P00439	p.Glu305Lys	COSM1706141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102846951C>T	NCI-TCGA Cosmic
PAH	P00439	p.Ile306Ter	RCV000106377	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102846950del	ClinVar
PAH	P00439	p.Ile306Val	rs62642934	missense variant	-	NC_000012.12:g.102846948T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile306Val	rs62642934	missense variant	-	NC_000012.12:g.102846948T>C	UniProt,dbSNP
PAH	P00439	p.Ile306Val	VAR_000992	missense variant	-	NC_000012.12:g.102846948T>C	UniProt
PAH	P00439	p.Ile306Val	RCV000089157	missense variant	-	NC_000012.12:g.102846948T>C	ClinVar
PAH	P00439	p.Leu308Phe	rs62642095	missense variant	-	NC_000012.12:g.102846942G>A	-
PAH	P00439	p.Leu308Val	rs62642095	missense variant	-	NC_000012.12:g.102846942G>C	-
PAH	P00439	p.Leu308Phe	RCV000089159	missense variant	-	NC_000012.12:g.102846942G>A	ClinVar
PAH	P00439	p.Leu308Val	RCV000089158	missense variant	-	NC_000012.12:g.102846942G>C	ClinVar
PAH	P00439	p.Ala309Val	RCV000150082	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>A	ClinVar
PAH	P00439	p.Ala309Asp	rs62642935	missense variant	-	NC_000012.12:g.102846938G>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala309Asp	rs62642935	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>T	UniProt,dbSNP
PAH	P00439	p.Ala309Asp	VAR_000993	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>T	UniProt
PAH	P00439	p.Ala309Val	rs62642935	missense variant	-	NC_000012.12:g.102846938G>A	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala309Val	rs62642935	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>A	UniProt,dbSNP
PAH	P00439	p.Ala309Val	VAR_000994	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>A	UniProt
PAH	P00439	p.Ala309Ser	rs1205657950	missense variant	-	NC_000012.12:g.102846939C>A	TOPMed
PAH	P00439	p.Ala309Val	RCV000078538	missense variant	-	NC_000012.12:g.102846938G>A	ClinVar
PAH	P00439	p.Ala309Asp	RCV000668228	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846938G>T	ClinVar
PAH	P00439	p.Ser310Tyr	RCV000089161	missense variant	-	NC_000012.12:g.102846935G>T	ClinVar
PAH	P00439	p.Ser310Phe	RCV000552302	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846935G>A	ClinVar
PAH	P00439	p.Ser310Ter	RCV000089163	frameshift	-	NC_000012.12:g.102846925_102846935del	ClinVar
PAH	P00439	p.Ser310Tyr	rs62642913	missense variant	-	NC_000012.12:g.102846935G>T	TOPMed
PAH	P00439	p.Ser310Tyr	rs62642913	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102846935G>T	UniProt,dbSNP
PAH	P00439	p.Ser310Tyr	VAR_068005	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102846935G>T	UniProt
PAH	P00439	p.Ser310Cys	rs62642913	missense variant	-	NC_000012.12:g.102846935G>C	TOPMed
PAH	P00439	p.Ser310Phe	rs62642913	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846935G>A	UniProt,dbSNP
PAH	P00439	p.Ser310Phe	VAR_000995	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846935G>A	UniProt
PAH	P00439	p.Ser310Phe	rs62642913	missense variant	-	NC_000012.12:g.102846935G>A	TOPMed
PAH	P00439	p.Leu311Ter	RCV000106378	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102846932_102846933AG[2]	ClinVar
PAH	P00439	p.Leu311Pro	rs62642936	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102846932A>G	ExAC,gnomAD
PAH	P00439	p.Leu311Pro	rs62642936	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846932A>G	UniProt,dbSNP
PAH	P00439	p.Leu311Pro	VAR_000996	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846932A>G	UniProt
PAH	P00439	p.Leu311Pro	rs62642936	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102846932A>G	ExAC,gnomAD
PAH	P00439	p.Leu311Pro	RCV000089164	missense variant	-	NC_000012.12:g.102846932A>G	ClinVar
PAH	P00439	p.Gly312Cys	RCV000515773	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846930C>A	ClinVar
PAH	P00439	p.Gly312Val	rs62642915	missense variant	-	NC_000012.12:g.102846929C>A	gnomAD
PAH	P00439	p.Gly312Asp	RCV000089165	missense variant	-	NC_000012.12:g.102846929C>T	ClinVar
PAH	P00439	p.Gly312Arg	RCV000758102	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846930C>G	ClinVar
PAH	P00439	p.Gly312Ser	rs763115697	missense variant	-	NC_000012.12:g.102846930C>T	ExAC,gnomAD
PAH	P00439	p.Gly312Cys	rs763115697	missense variant	-	NC_000012.12:g.102846930C>A	ExAC,gnomAD
PAH	P00439	p.Gly312Asp	rs62642915	missense variant	-	NC_000012.12:g.102846929C>T	gnomAD
PAH	P00439	p.Ala313Val	RCV000089167	missense variant	-	NC_000012.12:g.102846926G>A	ClinVar
PAH	P00439	p.Ala313Thr	RCV000669990	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846927C>T	ClinVar
PAH	P00439	p.Ala313Val	rs62642914	missense variant	-	NC_000012.12:g.102846926G>A	TOPMed
PAH	P00439	p.Ala313Ser	rs62642912	missense variant	-	NC_000012.12:g.102846927C>A	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Ala313Thr	rs62642912	missense variant	-	NC_000012.12:g.102846927C>T	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Pro314Thr	RCV000672630	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846924G>T	ClinVar
PAH	P00439	p.Pro314His	RCV000089171	missense variant	-	NC_000012.12:g.102846923G>T	ClinVar
PAH	P00439	p.Pro314Ser	RCV000758098	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846924G>A	ClinVar
PAH	P00439	p.Pro314His	rs62642940	missense variant	-	NC_000012.12:g.102846923G>T	TOPMed
PAH	P00439	p.Pro314Thr	rs199475650	missense variant	-	NC_000012.12:g.102846924G>T	gnomAD
PAH	P00439	p.Pro314His	rs62642940	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846923G>T	UniProt,dbSNP
PAH	P00439	p.Pro314His	VAR_000997	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846923G>T	UniProt
PAH	P00439	p.Pro314Ser	rs199475650	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102846924G>A	UniProt,dbSNP
PAH	P00439	p.Pro314Ser	VAR_068006	missense variant	Hyperphenylalaninemia (HPA)	NC_000012.12:g.102846924G>A	UniProt
PAH	P00439	p.Pro314Ser	rs199475650	missense variant	-	NC_000012.12:g.102846924G>A	gnomAD
PAH	P00439	p.Pro314Ter	RCV000089170	frameshift	-	NC_000012.12:g.102846924del	ClinVar
PAH	P00439	p.Asp315Glu	rs1180470263	missense variant	-	NC_000012.12:g.102846919A>C	TOPMed
PAH	P00439	p.Asp315Tyr	rs62642917	missense variant	-	NC_000012.12:g.102846921C>A	gnomAD
PAH	P00439	p.Asp315Tyr	RCV000089172	missense variant	-	NC_000012.12:g.102846921C>A	ClinVar
PAH	P00439	p.Glu316Lys	COSM3710538	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102846918C>T	NCI-TCGA Cosmic
PAH	P00439	p.Ile318Thr	RCV000089173	missense variant	-	NC_000012.12:g.102846911A>G	ClinVar
PAH	P00439	p.Ile318Thr	rs62642918	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846911A>G	UniProt,dbSNP
PAH	P00439	p.Ile318Thr	VAR_011574	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846911A>G	UniProt
PAH	P00439	p.Ile318Thr	rs62642918	missense variant	-	NC_000012.12:g.102846911A>G	gnomAD
PAH	P00439	p.Glu319Ter	RCV000078539	nonsense	-	NC_000012.12:g.102846909C>A	ClinVar
PAH	P00439	p.Glu319Ter	rs398123294	stop gained	-	NC_000012.12:g.102846909C>A	-
PAH	P00439	p.Glu319Asp	rs1387415225	missense variant	-	NC_000012.12:g.102846907T>G	TOPMed,gnomAD
PAH	P00439	p.Lys320Asn	RCV000666332	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846904C>G	ClinVar
PAH	P00439	p.Lys320Asn	rs199475615	missense variant	-	NC_000012.12:g.102846904C>G	ExAC
PAH	P00439	p.Leu321Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102846903G>T	NCI-TCGA
PAH	P00439	p.Ala322Gly	rs62514958	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>C	UniProt,dbSNP
PAH	P00439	p.Ala322Gly	VAR_000998	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>C	UniProt
PAH	P00439	p.Ala322Gly	rs62514958	missense variant	-	NC_000012.12:g.102846899G>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala322Thr	rs62514957	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846900C>T	UniProt,dbSNP
PAH	P00439	p.Ala322Thr	VAR_000999	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846900C>T	UniProt
PAH	P00439	p.Ala322Thr	rs62514957	missense variant	-	NC_000012.12:g.102846900C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala322Val	rs62514958	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>A	UniProt,dbSNP
PAH	P00439	p.Ala322Val	VAR_067759	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>A	UniProt
PAH	P00439	p.Ala322Val	rs62514958	missense variant	-	NC_000012.12:g.102846899G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala322Gly	RCV000675108	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846899G>C	ClinVar
PAH	P00439	p.Ala322Thr	RCV000797233	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102846900C>T	ClinVar
PAH	P00439	p.Thr323Lys	COSM6071189	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102846896G>T	NCI-TCGA Cosmic
PAH	P00439	p.Ile324Val	rs1221031352	missense variant	-	NC_000012.12:g.102844431T>C	TOPMed
PAH	P00439	p.Tyr325Ter	rs62508573	stop gained	-	NC_000012.12:g.102844426G>C	gnomAD
PAH	P00439	p.Tyr325Cys	RCV000150081	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844427T>C	ClinVar
PAH	P00439	p.Tyr325Cys	rs62508578	missense variant	-	NC_000012.12:g.102844427T>C	gnomAD
PAH	P00439	p.Tyr325Ter	RCV000410321	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102844426G>C	ClinVar
PAH	P00439	p.Trp326Ter	rs62514959	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102844424C>T	gnomAD
PAH	P00439	p.Trp326Ter	rs1555203761	stop gained	-	NC_000012.12:g.102844423C>T	-
PAH	P00439	p.Trp326Ter	RCV000089188	nonsense	-	NC_000012.12:g.102844424C>T	ClinVar
PAH	P00439	p.Trp326Ter	RCV000506068	nonsense	-	NC_000012.12:g.102844423C>T	ClinVar
PAH	P00439	p.Phe327Leu	RCV000089189	missense variant	-	NC_000012.12:g.102844420A>C	ClinVar
PAH	P00439	p.Phe327Leu	rs199475642	missense variant	-	NC_000012.12:g.102844420A>C	-
PAH	P00439	p.Phe327Tyr	rs535752872	missense variant	-	NC_000012.12:g.102844421A>T	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Thr328Ile	RCV000721175	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844418G>A	ClinVar
PAH	P00439	p.Thr328Ala	RCV000089190	missense variant	-	NC_000012.12:g.102844419T>C	ClinVar
PAH	P00439	p.Thr328Ile	RCV000350174	missense variant	-	NC_000012.12:g.102844418G>A	ClinVar
PAH	P00439	p.Thr328Ile	rs886042096	missense variant	-	NC_000012.12:g.102844418G>A	-
PAH	P00439	p.Thr328Ala	rs199475616	missense variant	-	NC_000012.12:g.102844419T>C	ExAC,gnomAD
PAH	P00439	p.Val329Leu	COSM6071190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102844416C>A	NCI-TCGA Cosmic
PAH	P00439	p.Val329Met	rs989654400	missense variant	-	NC_000012.12:g.102844416C>T	TOPMed
PAH	P00439	p.Val329Ala	rs748816402	missense variant	-	NC_000012.12:g.102844415A>G	ExAC,gnomAD
PAH	P00439	p.Glu330Lys	rs1356332985	missense variant	-	NC_000012.12:g.102844413C>T	gnomAD
PAH	P00439	p.Glu330Asp	rs62508580	missense variant	-	NC_000012.12:g.102844411C>G	-
PAH	P00439	p.Glu330Asp	RCV000089191	missense variant	-	NC_000012.12:g.102844411C>G	ClinVar
PAH	P00439	p.Glu330Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102844411C>A	NCI-TCGA
PAH	P00439	p.Phe331Ser	RCV000410352	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844409A>G	ClinVar
PAH	P00439	p.Phe331Cys	RCV000089193	missense variant	-	NC_000012.12:g.102844409A>C	ClinVar
PAH	P00439	p.Phe331Cys	rs199475614	missense variant	-	NC_000012.12:g.102844409A>C	gnomAD
PAH	P00439	p.Phe331Leu	rs62517179	missense variant	-	NC_000012.12:g.102844410A>G	-
PAH	P00439	p.Phe331Leu	rs62517179	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844410A>G	UniProt,dbSNP
PAH	P00439	p.Phe331Leu	VAR_001000	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844410A>G	UniProt
PAH	P00439	p.Phe331Ser	rs199475614	missense variant	-	NC_000012.12:g.102844409A>G	gnomAD
PAH	P00439	p.Phe331Leu	RCV000089192	missense variant	-	NC_000012.12:g.102844410A>G	ClinVar
PAH	P00439	p.Gly332Arg	rs1187270724	missense variant	-	NC_000012.12:g.102844407C>T	gnomAD
PAH	P00439	p.Gly332Glu	rs62508589	missense variant	-	NC_000012.12:g.102844406C>T	-
PAH	P00439	p.Gly332Glu	RCV000089194	missense variant	-	NC_000012.12:g.102844406C>T	ClinVar
PAH	P00439	p.Gly332Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102844406C>A	NCI-TCGA
PAH	P00439	p.Leu333Phe	rs62516060	missense variant	-	NC_000012.12:g.102844404G>A	-
PAH	P00439	p.Leu333Phe	rs62516060	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844404G>A	UniProt,dbSNP
PAH	P00439	p.Leu333Phe	VAR_001001	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844404G>A	UniProt
PAH	P00439	p.Leu333Phe	RCV000089195	missense variant	-	NC_000012.12:g.102844404G>A	ClinVar
PAH	P00439	p.Leu333Pro	rs1344368175	missense variant	-	NC_000012.12:g.102844403A>G	TOPMed
PAH	P00439	p.Cys334Ser	RCV000088695	missense variant	-	NC_000012.12:g.102844400C>G	ClinVar
PAH	P00439	p.Cys334Ter	rs140243918	stop gained	-	NC_000012.12:g.102844399G>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Cys334Ser	rs62517174	missense variant	-	NC_000012.12:g.102844400C>G	-
PAH	P00439	p.Cys334Ser	rs62517174	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844400C>G	UniProt,dbSNP
PAH	P00439	p.Cys334Ser	VAR_001002	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844400C>G	UniProt
PAH	P00439	p.Lys335Thr	RCV000106338	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844397T>G	ClinVar
PAH	P00439	p.Lys335Thr	rs281865434	missense variant	-	NC_000012.12:g.102844397T>G	-
PAH	P00439	p.Lys335Glu	RCV000295704	missense variant	-	NC_000012.12:g.102844398T>C	ClinVar
PAH	P00439	p.Lys335Glu	rs886042068	missense variant	-	NC_000012.12:g.102844398T>C	-
PAH	P00439	p.Gln336Glu	rs62516061	missense variant	-	NC_000012.12:g.102844395G>C	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Gln336Arg	rs62508735	missense variant	-	NC_000012.12:g.102844394T>C	-
PAH	P00439	p.Gln336Ter	rs62516061	stop gained	-	NC_000012.12:g.102844395G>A	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Gln336Arg	RCV000088697	missense variant	-	NC_000012.12:g.102844394T>C	ClinVar
PAH	P00439	p.Gln336Ter	RCV000088696	nonsense	-	NC_000012.12:g.102844395G>A	ClinVar
PAH	P00439	p.Gly337Val	RCV000088698	missense variant	-	NC_000012.12:g.102844391C>A	ClinVar
PAH	P00439	p.Gly337Glu	rs62517206	missense variant	-	NC_000012.12:g.102844391C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Gly337Val	rs62517206	missense variant	-	NC_000012.12:g.102844391C>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Gly337Val	rs62517206	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844391C>A	UniProt,dbSNP
PAH	P00439	p.Gly337Val	VAR_001003	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844391C>A	UniProt
PAH	P00439	p.Asp338Ala	rs1169310686	missense variant	-	NC_000012.12:g.102844388T>G	gnomAD
PAH	P00439	p.Asp338Tyr	RCV000088699	missense variant	-	NC_000012.12:g.102844389C>A	ClinVar
PAH	P00439	p.Asp338Tyr	rs62516150	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844389C>A	UniProt,dbSNP
PAH	P00439	p.Asp338Tyr	VAR_001004	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844389C>A	UniProt
PAH	P00439	p.Asp338Tyr	rs62516150	missense variant	-	NC_000012.12:g.102844389C>A	ExAC,gnomAD
PAH	P00439	p.Ile340Thr	RCV000088700	missense variant	-	NC_000012.12:g.102844382A>G	ClinVar
PAH	P00439	p.Ile340Met	rs1310594352	missense variant	-	NC_000012.12:g.102844381T>C	gnomAD
PAH	P00439	p.Ile340Thr	rs62508720	missense variant	-	NC_000012.12:g.102844382A>G	-
PAH	P00439	p.Ile340Val	rs1209521395	missense variant	-	NC_000012.12:g.102844383T>C	gnomAD
PAH	P00439	p.Lys341Ter	rs62517200	stop gained	-	NC_000012.12:g.102844380T>A	-
PAH	P00439	p.Lys341Arg	RCV000088703	missense variant	-	NC_000012.12:g.102844379T>C	ClinVar
PAH	P00439	p.Lys341Arg	rs62516153	missense variant	-	NC_000012.12:g.102844379T>C	-
PAH	P00439	p.Lys341Arg	rs62516153	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844379T>C	UniProt,dbSNP
PAH	P00439	p.Lys341Arg	VAR_001005	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844379T>C	UniProt
PAH	P00439	p.Lys341Thr	RCV000088702	missense variant	-	NC_000012.12:g.102844379T>G	ClinVar
PAH	P00439	p.Lys341Ter	RCV000088701	nonsense	-	NC_000012.12:g.102844380T>A	ClinVar
PAH	P00439	p.Lys341Thr	rs62516153	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844379T>G	UniProt,dbSNP
PAH	P00439	p.Lys341Thr	VAR_001006	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844379T>G	UniProt
PAH	P00439	p.Lys341Thr	rs62516153	missense variant	-	NC_000012.12:g.102844379T>G	-
PAH	P00439	p.Ala342Ter	RCV000412182	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102844378del	ClinVar
PAH	P00439	p.Ala342Glu	RCV000190375	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844376G>T	ClinVar
PAH	P00439	p.Ala342Glu	rs796064501	missense variant	-	NC_000012.12:g.102844376G>T	-
PAH	P00439	p.Ala342Thr	rs62507282	missense variant	-	NC_000012.12:g.102844377C>T	-
PAH	P00439	p.Ala342Thr	rs62507282	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844377C>T	UniProt,dbSNP
PAH	P00439	p.Ala342Thr	VAR_001007	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844377C>T	UniProt
PAH	P00439	p.Ala342Thr	RCV000088704	missense variant	-	NC_000012.12:g.102844377C>T	ClinVar
PAH	P00439	p.Ala342Pro	rs62507282	missense variant	-	NC_000012.12:g.102844377C>G	-
PAH	P00439	p.Ala342Pro	RCV000088705	missense variant	-	NC_000012.12:g.102844377C>G	ClinVar
PAH	P00439	p.Ala342Ter	RCV000088706	frameshift	-	NC_000012.12:g.102844378del	ClinVar
PAH	P00439	p.Tyr343Asp	RCV000088707	missense variant	-	NC_000012.12:g.102844374A>C	ClinVar
PAH	P00439	p.Tyr343Asp	rs62508651	missense variant	-	NC_000012.12:g.102844374A>C	-
PAH	P00439	p.Tyr343Cys	rs62507265	missense variant	-	NC_000012.12:g.102844373T>C	TOPMed
PAH	P00439	p.Tyr343Phe	rs62507265	missense variant	-	NC_000012.12:g.102844373T>A	TOPMed
PAH	P00439	p.Tyr343Cys	RCV000088708	missense variant	-	NC_000012.12:g.102844373T>C	ClinVar
PAH	P00439	p.Tyr343Phe	RCV000088709	missense variant	-	NC_000012.12:g.102844373T>A	ClinVar
PAH	P00439	p.Gly344Ser	RCV000088710	missense variant	-	NC_000012.12:g.102844371C>T	ClinVar
PAH	P00439	p.Gly344Asp	RCV000088712	missense variant	-	NC_000012.12:g.102844370C>T	ClinVar
PAH	P00439	p.Gly344Arg	RCV000088711	missense variant	-	NC_000012.12:g.102844371C>G	ClinVar
PAH	P00439	p.Gly344Ser	rs62508679	missense variant	-	NC_000012.12:g.102844371C>T	-
PAH	P00439	p.Gly344Asp	rs62508582	missense variant	-	NC_000012.12:g.102844370C>T	-
PAH	P00439	p.Gly344Arg	rs62508679	missense variant	-	NC_000012.12:g.102844371C>G	-
PAH	P00439	p.Gly344Arg	rs62508679	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844371C>G	UniProt,dbSNP
PAH	P00439	p.Gly344Arg	VAR_009247	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844371C>G	UniProt
PAH	P00439	p.Gly344Val	RCV000674226	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844370C>A	ClinVar
PAH	P00439	p.Ala345Thr	rs62516062	missense variant	-	NC_000012.12:g.102844368C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala345Thr	rs62516062	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>T	UniProt,dbSNP
PAH	P00439	p.Ala345Thr	VAR_001010	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>T	UniProt
PAH	P00439	p.Ala345Ser	rs62516062	missense variant	-	NC_000012.12:g.102844368C>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala345Ser	RCV000586982	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>A	ClinVar
PAH	P00439	p.Ala345Ser	rs62516062	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>A	UniProt,dbSNP
PAH	P00439	p.Ala345Ser	VAR_001009	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>A	UniProt
PAH	P00439	p.Ala345Thr	RCV000490440	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844368C>T	ClinVar
PAH	P00439	p.Gly346Glu	RCV000553622	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844364C>T	ClinVar
PAH	P00439	p.Gly346Arg	rs62508688	missense variant	-	NC_000012.12:g.102844365C>G	-
PAH	P00439	p.Gly346Glu	rs1555203737	missense variant	-	NC_000012.12:g.102844364C>T	-
PAH	P00439	p.Gly346Arg	RCV000088717	missense variant	-	NC_000012.12:g.102844365C>G	ClinVar
PAH	P00439	p.Gly346Arg	rs62508688	missense variant	-	NC_000012.12:g.102844365C>T	-
PAH	P00439	p.Gly346Arg	RCV000088716	missense variant	-	NC_000012.12:g.102844365C>T	ClinVar
PAH	P00439	p.Leu347Phe	rs62516154	missense variant	-	NC_000012.12:g.102844362G>A	-
PAH	P00439	p.Leu347Phe	rs62516154	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844362G>A	UniProt,dbSNP
PAH	P00439	p.Leu347Phe	VAR_001011	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844362G>A	UniProt
PAH	P00439	p.Leu347Ter	RCV000780556	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102844365del	ClinVar
PAH	P00439	p.Leu347Phe	RCV000088719	missense variant	-	NC_000012.12:g.102844362G>A	ClinVar
PAH	P00439	p.Leu347Ter	RCV000088718	frameshift	-	NC_000012.12:g.102844365del	ClinVar
PAH	P00439	p.Leu348Ter	RCV000088720	frameshift	-	NC_000012.12:g.102844348_102844358del	ClinVar
PAH	P00439	p.Leu348Val	rs62516092	missense variant	-	NC_000012.12:g.102844359G>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Leu348Val	rs62516092	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844359G>C	UniProt,dbSNP
PAH	P00439	p.Leu348Val	VAR_001012	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844359G>C	UniProt
PAH	P00439	p.Leu348Val	RCV000150080	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844359G>C	ClinVar
PAH	P00439	p.Leu348Val	RCV000078498	missense variant	-	NC_000012.12:g.102844359G>C	ClinVar
PAH	P00439	p.Ser349Pro	rs62508646	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102844356A>G	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ser349Pro	rs62508646	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844356A>G	UniProt,dbSNP
PAH	P00439	p.Ser349Pro	VAR_001014	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844356A>G	UniProt
PAH	P00439	p.Ser349Ala	rs62508646	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102844356A>C	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ser349Ter	rs62507279	stop gained	-	NC_000012.12:g.102844355G>T	-
PAH	P00439	p.Ser349Pro	rs62508646	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102844356A>G	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ser349Leu	rs62507279	missense variant	-	NC_000012.12:g.102844355G>A	-
PAH	P00439	p.Ser349Leu	rs62507279	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844355G>A	UniProt,dbSNP
PAH	P00439	p.Ser349Leu	VAR_001013	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844355G>A	UniProt
PAH	P00439	p.Ser349Ter	RCV000088722	nonsense	-	NC_000012.12:g.102844355G>T	ClinVar
PAH	P00439	p.Ser349Leu	RCV000088723	missense variant	-	NC_000012.12:g.102844355G>A	ClinVar
PAH	P00439	p.Ser349Pro	RCV000000646	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844356A>G	ClinVar
PAH	P00439	p.Ser349Ala	RCV000088721	missense variant	-	NC_000012.12:g.102844356A>C	ClinVar
PAH	P00439	p.Ser350Ter	RCV000088724	frameshift	-	NC_000012.12:g.102844354_102844357dup	ClinVar
PAH	P00439	p.Ser350Tyr	rs62508628	missense variant	-	NC_000012.12:g.102844352G>T	-
PAH	P00439	p.Ser350Thr	rs62517183	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844353A>T	UniProt,dbSNP
PAH	P00439	p.Ser350Thr	VAR_001015	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102844353A>T	UniProt
PAH	P00439	p.Ser350Thr	rs62517183	missense variant	-	NC_000012.12:g.102844353A>T	-
PAH	P00439	p.Ser350Thr	RCV000088725	missense variant	-	NC_000012.12:g.102844353A>T	ClinVar
PAH	P00439	p.Ser350Tyr	RCV000088726	missense variant	-	NC_000012.12:g.102844352G>T	ClinVar
PAH	P00439	p.Gly352Arg	rs62508686	missense variant	-	NC_000012.12:g.102844347C>G	-
PAH	P00439	p.Gly352Cys	rs62508686	missense variant	-	NC_000012.12:g.102844347C>A	-
PAH	P00439	p.Gly352Arg	RCV000088727	missense variant	-	NC_000012.12:g.102844347C>G	ClinVar
PAH	P00439	p.Gly352Ter	RCV000267428	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102844347del	ClinVar
PAH	P00439	p.Gly352Ter	RCV000088729	frameshift	-	NC_000012.12:g.102844347del	ClinVar
PAH	P00439	p.Gly352Cys	RCV000088728	missense variant	-	NC_000012.12:g.102844347C>A	ClinVar
PAH	P00439	p.Glu353Ter	RCV000088730	frameshift	-	NC_000012.12:g.102844345del	ClinVar
PAH	P00439	p.Gln355Ter	RCV000088731	nonsense	-	NC_000012.12:g.102844338G>A	ClinVar
PAH	P00439	p.Gln355Ter	rs199475633	stop gained	-	NC_000012.12:g.102844338G>A	-
PAH	P00439	p.Tyr356Ter	RCV000078501	nonsense	-	NC_000012.12:g.102843777G>T	ClinVar
PAH	P00439	p.Tyr356Ter	rs62516095	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102843777G>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr356Ter	rs62516095	stop gained	Phenylketonuria (pku)	NC_000012.12:g.102843777G>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr356His	rs62507320	missense variant	-	NC_000012.12:g.102843779A>G	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr356His	RCV000088743	missense variant	-	NC_000012.12:g.102843779A>G	ClinVar
PAH	P00439	p.Tyr356Ter	RCV000150078	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102843777G>T	ClinVar
PAH	P00439	p.Tyr356Ter	RCV000088745	nonsense	-	NC_000012.12:g.102843777G>C	ClinVar
PAH	P00439	p.Tyr356Ter	RCV000000626	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102843777G>C	ClinVar
PAH	P00439	p.Cys357Tyr	rs1291253532	missense variant	-	NC_000012.12:g.102843775C>T	gnomAD
PAH	P00439	p.Cys357Arg	RCV000667720	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843776A>G	ClinVar
PAH	P00439	p.Cys357Arg	rs62508595	missense variant	-	NC_000012.12:g.102843776A>G	-
PAH	P00439	p.Cys357Gly	RCV000088746	missense variant	-	NC_000012.12:g.102843776A>C	ClinVar
PAH	P00439	p.Cys357Gly	rs62508595	missense variant	-	NC_000012.12:g.102843776A>C	-
PAH	P00439	p.Leu358Phe	RCV000672872	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843771T>A	ClinVar
PAH	P00439	p.Leu358Phe	rs376480977	missense variant	-	NC_000012.12:g.102843771T>A	ESP,ExAC,gnomAD
PAH	P00439	p.Ser359Ter	RCV000088747	nonsense	-	NC_000012.12:g.102843769G>C	ClinVar
PAH	P00439	p.Lys361Ter	rs772918939	stop gained	-	NC_000012.12:g.102843764T>A	ExAC,gnomAD
PAH	P00439	p.Pro362Thr	RCV000088748	missense variant	-	NC_000012.12:g.102843761G>T	ClinVar
PAH	P00439	p.Pro362Ser	rs62507329	missense variant	-	NC_000012.12:g.102843761G>A	ExAC,gnomAD
PAH	P00439	p.Pro362Thr	rs62507329	missense variant	-	NC_000012.12:g.102843761G>T	ExAC,gnomAD
PAH	P00439	p.Lys363Asn	RCV000669869	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843756C>G	ClinVar
PAH	P00439	p.Lys363Asn	RCV000088750	missense variant	-	NC_000012.12:g.102843756C>A	ClinVar
PAH	P00439	p.Lys363Asn	rs63329263	missense variant	-	NC_000012.12:g.102843756C>A	TOPMed
PAH	P00439	p.Lys363Ter	RCV000088749	frameshift	-	NC_000012.12:g.102843758_102843759del	ClinVar
PAH	P00439	p.Lys363Ter	RCV000169397	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843756del	ClinVar
PAH	P00439	p.Lys363Asn	rs63329263	missense variant	-	NC_000012.12:g.102843756C>G	TOPMed
PAH	P00439	p.Lys363Ter	RCV000088751	frameshift	-	NC_000012.12:g.102843756del	ClinVar
PAH	P00439	p.Leu364Phe	rs1221432852	missense variant	-	NC_000012.12:g.102843755G>A	TOPMed
PAH	P00439	p.Leu364del	VAR_001017	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Leu364_Glu368del	VAR_001018	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Leu365Phe	rs951540129	missense variant	-	NC_000012.12:g.102843752G>A	TOPMed,gnomAD
PAH	P00439	p.Pro366His	rs62516098	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843748G>T	UniProt,dbSNP
PAH	P00439	p.Pro366His	VAR_001019	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843748G>T	UniProt
PAH	P00439	p.Pro366His	rs62516098	missense variant	-	NC_000012.12:g.102843748G>T	-
PAH	P00439	p.Pro366His	RCV000672118	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843748G>T	ClinVar
PAH	P00439	p.Leu367Arg	RCV000758124	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843745A>C	ClinVar
PAH	P00439	p.Leu367Ter	RCV000781680	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843750del	ClinVar
PAH	P00439	p.Leu367Pro	RCV000088758	missense variant	-	NC_000012.12:g.102843745A>G	ClinVar
PAH	P00439	p.Leu367Ter	RCV000088757	frameshift	-	NC_000012.12:g.102843750del	ClinVar
PAH	P00439	p.Leu367Ter	RCV000088755	frameshift	-	NC_000012.12:g.102843750dup	ClinVar
PAH	P00439	p.Leu367Val	RCV000758105	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843746G>C	ClinVar
PAH	P00439	p.Glu368Lys	rs1488232864	missense variant	-	NC_000012.12:g.102843743C>T	TOPMed,gnomAD
PAH	P00439	p.Glu368Gln	rs1488232864	missense variant	-	NC_000012.12:g.102843743C>G	TOPMed,gnomAD
PAH	P00439	p.Lys371Arg	RCV000088760	missense variant	-	NC_000012.12:g.102843733T>C	ClinVar
PAH	P00439	p.Lys371Arg	rs62507268	missense variant	-	NC_000012.12:g.102843733T>C	-
PAH	P00439	p.Thr372Ser	RCV000306209	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843731T>A	ClinVar
PAH	P00439	p.Thr372Ser	rs62517163	missense variant	-	NC_000012.12:g.102843731T>A	gnomAD
PAH	P00439	p.Thr372Ser	rs62517163	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843731T>A	UniProt,dbSNP
PAH	P00439	p.Thr372Ser	VAR_001020	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843731T>A	UniProt
PAH	P00439	p.Ala373Thr	RCV000088762	missense variant	-	NC_000012.12:g.102843728C>T	ClinVar
PAH	P00439	p.Ala373Thr	rs62508717	missense variant	-	NC_000012.12:g.102843728C>T	-
PAH	P00439	p.Ala373Ter	RCV000088763	frameshift	-	NC_000012.12:g.102843727_102843728del	ClinVar
PAH	P00439	p.Ile374Val	rs769076484	missense variant	-	NC_000012.12:g.102843725T>C	ExAC,gnomAD
PAH	P00439	p.Ile374Phe	rs769076484	missense variant	-	NC_000012.12:g.102843725T>A	ExAC,gnomAD
PAH	P00439	p.Gln375Glu	rs184148104	missense variant	-	NC_000012.12:g.102843722G>C	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Asn376Ter	RCV000088765	frameshift	-	NC_000012.12:g.102843721del	ClinVar
PAH	P00439	p.Tyr377Cys	rs62642942	missense variant	-	NC_000012.12:g.102843715T>C	gnomAD
PAH	P00439	p.Tyr377Ter	RCV000088766	frameshift	-	NC_000012.12:g.102843717del	ClinVar
PAH	P00439	p.Tyr377Cys	RCV000088767	missense variant	-	NC_000012.12:g.102843715T>C	ClinVar
PAH	P00439	p.Tyr377Ter	RCV000000666	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843717del	ClinVar
PAH	P00439	p.Thr378Ser	rs62642911	missense variant	-	NC_000012.12:g.102843713T>A	-
PAH	P00439	p.Thr378Ile	rs780691974	missense variant	-	NC_000012.12:g.102843712G>A	ExAC,gnomAD
PAH	P00439	p.Thr378Ser	RCV000088768	missense variant	-	NC_000012.12:g.102843713T>A	ClinVar
PAH	P00439	p.Val379Ala	rs746203167	missense variant	-	NC_000012.12:g.102843709A>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Val379Leu	rs772630527	missense variant	-	NC_000012.12:g.102843710C>G	ExAC,gnomAD
PAH	P00439	p.Thr380Met	rs62642937	missense variant	-	NC_000012.12:g.102843706G>A	UniProt,dbSNP
PAH	P00439	p.Thr380Met	VAR_001022	missense variant	-	NC_000012.12:g.102843706G>A	UniProt
PAH	P00439	p.Thr380Met	rs62642937	missense variant	-	NC_000012.12:g.102843706G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Thr380Met	RCV000850463	missense variant	Marfanoid habitus and intellectual disability	NC_000012.12:g.102843706G>A	ClinVar
PAH	P00439	p.Phe382Leu	rs1555203681	missense variant	-	NC_000012.12:g.102843701A>G	-
PAH	P00439	p.Phe382Leu	RCV000672945	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843701A>G	ClinVar
PAH	P00439	p.Gln383Ter	RCV000409716	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102843698G>A	ClinVar
PAH	P00439	p.Gln383Ter	rs1037293795	stop gained	-	NC_000012.12:g.102843698G>A	TOPMed
PAH	P00439	p.Pro384Ser	rs1555203677	missense variant	-	NC_000012.12:g.102843695G>A	-
PAH	P00439	p.Pro384Ser	RCV000666283	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843695G>A	ClinVar
PAH	P00439	p.Leu385Pro	COSM691582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102843691A>G	NCI-TCGA Cosmic
PAH	P00439	p.Leu385Ter	RCV000704392	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843695del	ClinVar
PAH	P00439	p.Tyr386His	RCV000173991	missense variant	-	NC_000012.12:g.102843689A>G	ClinVar
PAH	P00439	p.Tyr386Asp	RCV000088770	missense variant	-	NC_000012.12:g.102843689A>C	ClinVar
PAH	P00439	p.Tyr386Asp	rs199475691	missense variant	-	NC_000012.12:g.102843689A>C	-
PAH	P00439	p.Tyr386His	rs199475691	missense variant	-	NC_000012.12:g.102843689A>G	-
PAH	P00439	p.Tyr386Cys	RCV000088771	missense variant	-	NC_000012.12:g.102843688T>C	ClinVar
PAH	P00439	p.Tyr386Cys	rs62516141	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843688T>C	UniProt,dbSNP
PAH	P00439	p.Tyr386Cys	VAR_001023	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843688T>C	UniProt
PAH	P00439	p.Tyr386Cys	rs62516141	missense variant	-	NC_000012.12:g.102843688T>C	ESP,TOPMed,gnomAD
PAH	P00439	p.Tyr387Ter	rs149595475	stop gained	-	NC_000012.12:g.102843684G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr387His	rs62517194	missense variant	-	NC_000012.12:g.102843686A>G	-
PAH	P00439	p.Tyr387His	rs62517194	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843686A>G	UniProt,dbSNP
PAH	P00439	p.Tyr387His	VAR_001024	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843686A>G	UniProt
PAH	P00439	p.Tyr387His	RCV000088772	missense variant	-	NC_000012.12:g.102843686A>G	ClinVar
PAH	P00439	p.Val388Ala	RCV000106341	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843682A>G	ClinVar
PAH	P00439	p.Val388Met	RCV000000650	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>T	ClinVar
PAH	P00439	p.Val388Ter	RCV000088776	frameshift	-	NC_000012.12:g.102843682_102843683del	ClinVar
PAH	P00439	p.Val388Leu	rs62516101	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>G	UniProt,dbSNP
PAH	P00439	p.Val388Leu	VAR_001025	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>G	UniProt
PAH	P00439	p.Val388Leu	rs62516101	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102843683C>G	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Val388Met	rs62516101	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102843683C>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Val388Ala	rs281865435	missense variant	-	NC_000012.12:g.102843682A>G	-
PAH	P00439	p.Val388Met	rs62516101	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>T	UniProt,dbSNP
PAH	P00439	p.Val388Met	VAR_001026	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843683C>T	UniProt
PAH	P00439	p.Val388Met	RCV000088774	missense variant	-	NC_000012.12:g.102843683C>T	ClinVar
PAH	P00439	p.Val388Leu	RCV000088775	missense variant	-	NC_000012.12:g.102843683C>G	ClinVar
PAH	P00439	p.Ala389Ter	RCV000669467	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843679del	ClinVar
PAH	P00439	p.Ala389Ter	RCV000088777	frameshift	-	NC_000012.12:g.102843679del	ClinVar
PAH	P00439	p.Glu390Gly	RCV000078503	missense variant	-	NC_000012.12:g.102843676T>C	ClinVar
PAH	P00439	p.Glu390Gly	RCV000000656	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102843676T>C	ClinVar
PAH	P00439	p.Glu390Gly	rs5030856	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102843676T>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Glu390Gly	RCV000000657	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843676T>C	ClinVar
PAH	P00439	p.Glu390Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102843675C>A	NCI-TCGA
PAH	P00439	p.Ser391Thr	RCV000210788	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843673C>G	ClinVar
PAH	P00439	p.Ser391Gly	RCV000106342	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843674T>C	ClinVar
PAH	P00439	p.Ser391Ter	RCV000669075	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843673_102843674CT[2]	ClinVar
PAH	P00439	p.Ser391Gly	rs281865453	missense variant	-	NC_000012.12:g.102843674T>C	-
PAH	P00439	p.Ser391Thr	rs869312997	missense variant	-	NC_000012.12:g.102843673C>G	-
PAH	P00439	p.Phe392Ser	RCV000088778	missense variant	-	NC_000012.12:g.102843670A>G	ClinVar
PAH	P00439	p.Phe392Ile	rs180819807	missense variant	-	NC_000012.12:g.102843671A>T	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Phe392Ser	rs199475695	missense variant	-	NC_000012.12:g.102843670A>G	-
PAH	P00439	p.Asn393Ser	rs1032248318	missense variant	-	NC_000012.12:g.102843667T>C	TOPMed,gnomAD
PAH	P00439	p.Asn393His	rs761487922	missense variant	-	NC_000012.12:g.102843668T>G	ExAC,gnomAD
PAH	P00439	p.Asp394His	RCV000714571	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843665C>G	ClinVar
PAH	P00439	p.Asp394His	rs62516142	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843665C>G	UniProt,dbSNP
PAH	P00439	p.Asp394His	VAR_001029	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843665C>G	UniProt
PAH	P00439	p.Asp394Ala	RCV000088780	missense variant	-	NC_000012.12:g.102843664T>G	ClinVar
PAH	P00439	p.Asp394Ala	rs62516102	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843664T>G	UniProt,dbSNP
PAH	P00439	p.Asp394Ala	VAR_001028	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843664T>G	UniProt
PAH	P00439	p.Asp394Ala	rs62516102	missense variant	-	NC_000012.12:g.102843664T>G	-
PAH	P00439	p.Asp394Tyr	RCV000106343	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843665C>A	ClinVar
PAH	P00439	p.Asp394Ter	RCV000666841	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843665del	ClinVar
PAH	P00439	p.Ala395Gly	rs62508736	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843661G>C	UniProt,dbSNP
PAH	P00439	p.Ala395Gly	VAR_001030	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843661G>C	UniProt
PAH	P00439	p.Ala395Gly	rs62508736	missense variant	-	NC_000012.12:g.102843661G>C	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala395Pro	RCV000781679	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843662C>G	ClinVar
PAH	P00439	p.Ala395Pro	rs62516103	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843662C>G	UniProt,dbSNP
PAH	P00439	p.Ala395Pro	VAR_001031	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843662C>G	UniProt
PAH	P00439	p.Ala395Pro	rs62516103	missense variant	-	NC_000012.12:g.102843662C>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala395Asp	RCV000088782	missense variant	-	NC_000012.12:g.102843661G>T	ClinVar
PAH	P00439	p.Ala395Gly	RCV000410586	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843661G>C	ClinVar
PAH	P00439	p.Ala395Asp	rs62508736	missense variant	-	NC_000012.12:g.102843661G>T	ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Lys396Arg	rs776178623	missense variant	-	NC_000012.12:g.102843658T>C	ExAC,gnomAD
PAH	P00439	p.Glu397Lys	rs1237673210	missense variant	-	NC_000012.12:g.102843656C>T	TOPMed
PAH	P00439	p.Lys398Asn	COSM4901318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102843651T>A	NCI-TCGA Cosmic
PAH	P00439	p.Val399Ter	RCV000088785	frameshift	-	NC_000012.12:g.102843649_102843652del	ClinVar
PAH	P00439	p.Val399Ala	RCV000106344	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843649A>G	ClinVar
PAH	P00439	p.Val399Ala	rs281865436	missense variant	-	NC_000012.12:g.102843649A>G	-
PAH	P00439	p.Val399_Arg400del	VAR_001032	inframe_deletion	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Arg400Lys	RCV000672156	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102843646C>T	ClinVar
PAH	P00439	p.Arg400Ter	RCV000671992	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102843648del	ClinVar
PAH	P00439	p.Arg400Thr	RCV000088796	missense variant	-	NC_000012.12:g.102843646C>G	ClinVar
PAH	P00439	p.Arg400Ter	RCV000088788	frameshift	-	NC_000012.12:g.102843648del	ClinVar
PAH	P00439	p.Arg400Lys	rs199475658	missense variant	-	NC_000012.12:g.102843646C>T	gnomAD
PAH	P00439	p.Arg400Thr	rs199475658	missense variant	-	NC_000012.12:g.102843646C>G	gnomAD
PAH	P00439	p.Asn401Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102840512G>T	NCI-TCGA
PAH	P00439	p.Phe402Leu	RCV000088800	missense variant	-	NC_000012.12:g.102840511A>G	ClinVar
PAH	P00439	p.Phe402Leu	rs62508725	missense variant	-	NC_000012.12:g.102840511A>G	-
PAH	P00439	p.Phe402Ser	rs1399587250	missense variant	-	NC_000012.12:g.102840510A>G	gnomAD
PAH	P00439	p.Ala403Val	RCV000078506	missense variant	-	NC_000012.12:g.102840507G>A	ClinVar
PAH	P00439	p.Ala403Val	RCV000150075	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840507G>A	ClinVar
PAH	P00439	p.Ala403Val	rs5030857	missense variant	-	NC_000012.12:g.102840507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala403Val	RCV000622360	missense variant	Inborn genetic diseases	NC_000012.12:g.102840507G>A	ClinVar
PAH	P00439	p.Ala404Pro	RCV000301874	missense variant	-	NC_000012.12:g.102840505C>G	ClinVar
PAH	P00439	p.Ala404Pro	rs886043085	missense variant	-	NC_000012.12:g.102840505C>G	gnomAD
PAH	P00439	p.Ala404Ser	rs886043085	missense variant	-	NC_000012.12:g.102840505C>A	gnomAD
PAH	P00439	p.Ala404Ter	RCV000674210	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102840506del	ClinVar
PAH	P00439	p.Ile406Met	RCV000668256	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840497T>C	ClinVar
PAH	P00439	p.Ile406Met	rs773526027	missense variant	-	NC_000012.12:g.102840497T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile406Thr	RCV000758128	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840498A>G	ClinVar
PAH	P00439	p.Ile406Val	RCV000758135	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840499T>C	ClinVar
PAH	P00439	p.Ile406Val	rs749613899	missense variant	-	NC_000012.12:g.102840499T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Pro407Ser	RCV000672236	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840496G>A	ClinVar
PAH	P00439	p.Pro407Leu	RCV000000667	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840495G>A	ClinVar
PAH	P00439	p.Pro407Ter	RCV000088805	frameshift	-	NC_000012.12:g.102840496del	ClinVar
PAH	P00439	p.Pro407Leu	rs62644473	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840495G>A	-
PAH	P00439	p.Arg408Gln	rs5030859	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840492C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg408Trp	rs5030858	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840493G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg408Trp	RCV000000607	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840493G>A	ClinVar
PAH	P00439	p.Arg408Gln	RCV000000643	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840492C>T	ClinVar
PAH	P00439	p.Arg408Gln	RCV000088806	missense variant	-	NC_000012.12:g.102840492C>T	ClinVar
PAH	P00439	p.Arg408Trp	RCV000078507	missense variant	-	NC_000012.12:g.102840493G>A	ClinVar
PAH	P00439	p.Pro409His	COSM430187	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102840489G>T	NCI-TCGA Cosmic
PAH	P00439	p.Pro409Ser	rs1457736410	missense variant	-	NC_000012.12:g.102840490G>A	gnomAD
PAH	P00439	p.Phe410Cys	RCV000088808	missense variant	-	NC_000012.12:g.102840486A>C	ClinVar
PAH	P00439	p.Phe410Ser	rs62644475	missense variant	-	NC_000012.12:g.102840486A>G	-
PAH	P00439	p.Phe410Ser	RCV000665363	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840486A>G	ClinVar
PAH	P00439	p.Ser411Ter	RCV000088810	nonsense	-	NC_000012.12:g.102840483G>T	ClinVar
PAH	P00439	p.Ser411Ter	rs62644477	stop gained	-	NC_000012.12:g.102840483G>T	-
PAH	P00439	p.Ser411Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102840484A>T	NCI-TCGA
PAH	P00439	p.Val412Ala	COSM3986575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102840480A>G	NCI-TCGA Cosmic
PAH	P00439	p.Val412Phe	rs899129158	missense variant	-	NC_000012.12:g.102840481C>A	gnomAD
PAH	P00439	p.Val412Ile	rs899129158	missense variant	-	NC_000012.12:g.102840481C>T	gnomAD
PAH	P00439	p.Arg413Ser	RCV000088811	missense variant	-	NC_000012.12:g.102840478G>T	ClinVar
PAH	P00439	p.Arg413Cys	RCV000088812	missense variant	-	NC_000012.12:g.102840478G>A	ClinVar
PAH	P00439	p.Arg413Ser	rs62644467	missense variant	-	NC_000012.12:g.102840478G>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg413Pro	RCV000000623	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840477C>G	ClinVar
PAH	P00439	p.Arg413Pro	RCV000088813	missense variant	-	NC_000012.12:g.102840477C>G	ClinVar
PAH	P00439	p.Arg413Cys	rs62644467	missense variant	-	NC_000012.12:g.102840478G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg413Pro	rs79931499	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840477C>G	UniProt,dbSNP
PAH	P00439	p.Arg413Pro	VAR_001036	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840477C>G	UniProt
PAH	P00439	p.Arg413Pro	rs79931499	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840477C>G	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg413His	rs79931499	missense variant	Phenylketonuria (pku)	NC_000012.12:g.102840477C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr414His	RCV000106346	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840475A>G	ClinVar
PAH	P00439	p.Tyr414Cys	rs5030860	missense variant	-	NC_000012.12:g.102840474T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAH	P00439	p.Tyr414His	rs281865437	missense variant	-	NC_000012.12:g.102840475A>G	ExAC,gnomAD
PAH	P00439	p.Tyr414Cys	RCV000078508	missense variant	-	NC_000012.12:g.102840474T>C	ClinVar
PAH	P00439	p.Tyr414Cys	RCV000150074	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840474T>C	ClinVar
PAH	P00439	p.Tyr414Cys	RCV000000624	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102840474T>C	ClinVar
PAH	P00439	p.Asp415Asn	rs62644499	missense variant	-	NC_000012.12:g.102840472C>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Asp415Asn	RCV000000648	missense variant	Hyperphenylalaninemia, non-pku	NC_000012.12:g.102840472C>T	ClinVar
PAH	P00439	p.Asp415Asn	RCV000401074	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840472C>T	ClinVar
PAH	P00439	p.Pro416Gln	rs1445893088	missense variant	-	NC_000012.12:g.102840468G>T	gnomAD
PAH	P00439	p.Pro416Gln	RCV000674315	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840468G>T	ClinVar
PAH	P00439	p.Tyr417Cys	rs1371700813	missense variant	-	NC_000012.12:g.102840465T>C	gnomAD
PAH	P00439	p.Tyr417His	RCV000088817	missense variant	-	NC_000012.12:g.102840466A>G	ClinVar
PAH	P00439	p.Tyr417Asn	RCV000088816	missense variant	-	NC_000012.12:g.102840466A>T	ClinVar
PAH	P00439	p.Tyr417His	rs62644471	missense variant	-	NC_000012.12:g.102840466A>G	-
PAH	P00439	p.Tyr417Asn	rs62644471	missense variant	-	NC_000012.12:g.102840466A>T	-
PAH	P00439	p.Thr418Pro	rs62644501	missense variant	-	NC_000012.12:g.102840463T>G	gnomAD
PAH	P00439	p.Thr418Ala	rs62644501	missense variant	-	NC_000012.12:g.102840463T>C	gnomAD
PAH	P00439	p.Thr418Pro	RCV000672448	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840463T>G	ClinVar
PAH	P00439	p.Gln419Arg	RCV000667759	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840459T>C	ClinVar
PAH	P00439	p.Gln419Arg	rs752255985	missense variant	-	NC_000012.12:g.102840459T>C	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg420Met	rs767075719	missense variant	-	NC_000012.12:g.102840456C>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Arg420Gly	rs1162831467	missense variant	-	NC_000012.12:g.102840457T>C	TOPMed,gnomAD
PAH	P00439	p.Arg420Thr	rs767075719	missense variant	-	NC_000012.12:g.102840456C>G	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ile421Thr	RCV000088820	missense variant	-	NC_000012.12:g.102840453A>G	ClinVar
PAH	P00439	p.Ile421Thr	rs199475696	missense variant	-	NC_000012.12:g.102840453A>G	ExAC,gnomAD
PAH	P00439	p.Ile421Ser	VAR_067760	Missense	Phenylketonuria (PKU) [MIM:261600]	-	UniProt
PAH	P00439	p.Glu422Lys	RCV000088821	missense variant	-	NC_000012.12:g.102840451C>T	ClinVar
PAH	P00439	p.Glu422Lys	rs199475621	missense variant	-	NC_000012.12:g.102840451C>T	-
PAH	P00439	p.Glu422Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102840450T>C	NCI-TCGA
PAH	P00439	p.Val423Ala	COSM1358227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102840447A>G	NCI-TCGA Cosmic
PAH	P00439	p.Val423Ile	rs1202739696	missense variant	-	NC_000012.12:g.102840448C>T	TOPMed,gnomAD
PAH	P00439	p.Leu424Ser	RCV000088822	missense variant	-	NC_000012.12:g.102840444A>G	ClinVar
PAH	P00439	p.Leu424Ser	rs199475670	missense variant	-	NC_000012.12:g.102840444A>G	-
PAH	P00439	p.Leu424Val	rs148041893	missense variant	-	NC_000012.12:g.102840445A>C	ESP,TOPMed,gnomAD
PAH	P00439	p.Asp425Asn	rs1439603624	missense variant	-	NC_000012.12:g.102840442C>T	gnomAD
PAH	P00439	p.Asp425Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102840441T>C	NCI-TCGA
PAH	P00439	p.Thr427Ile	rs1251784003	missense variant	-	NC_000012.12:g.102840435G>A	TOPMed,gnomAD
PAH	P00439	p.Gln428Ter	RCV000410471	nonsense	Phenylketonuria (PKU)	NC_000012.12:g.102840433G>A	ClinVar
PAH	P00439	p.Gln428Glu	rs567261857	missense variant	-	NC_000012.12:g.102840433G>C	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Gln428Ter	rs567261857	stop gained	-	NC_000012.12:g.102840433G>A	1000Genomes,ExAC,gnomAD
PAH	P00439	p.Gln428Ter	RCV000759177	nonsense	-	NC_000012.12:g.102840433G>A	ClinVar
PAH	P00439	p.Gln429Lys	RCV000666644	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840430G>T	ClinVar
PAH	P00439	p.Gln429Pro	RCV000174234	missense variant	-	NC_000012.12:g.102840429T>G	ClinVar
PAH	P00439	p.Gln429Ter	rs764974157	stop gained	-	NC_000012.12:g.102840430G>A	ExAC,TOPMed,gnomAD
PAH	P00439	p.Gln429Pro	rs794727047	missense variant	-	NC_000012.12:g.102840429T>G	gnomAD
PAH	P00439	p.Gln429Lys	rs764974157	missense variant	-	NC_000012.12:g.102840430G>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Leu430Pro	RCV000088824	missense variant	-	NC_000012.12:g.102840426A>G	ClinVar
PAH	P00439	p.Leu430Pro	rs199475607	missense variant	-	NC_000012.12:g.102840426A>G	-
PAH	P00439	p.Leu430Pro	rs199475607	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840426A>G	UniProt,dbSNP
PAH	P00439	p.Leu430Pro	VAR_001041	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840426A>G	UniProt
PAH	P00439	p.Leu430Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102840427G>A	NCI-TCGA
PAH	P00439	p.Lys431Ter	RCV000666334	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102840422_102840423del	ClinVar
PAH	P00439	p.Leu433Ter	RCV000410563	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102840420dup	ClinVar
PAH	P00439	p.Ala434Asp	RCV000169393	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102840414G>T	ClinVar
PAH	P00439	p.Ala434Thr	rs1355432845	missense variant	-	NC_000012.12:g.102840415C>T	gnomAD
PAH	P00439	p.Ala434Asp	rs199475659	missense variant	-	NC_000012.12:g.102840414G>T	TOPMed
PAH	P00439	p.Asp435Glu	rs748303375	missense variant	-	NC_000012.12:g.102840410A>T	ExAC,gnomAD
PAH	P00439	p.Ser439Gly	rs989098970	missense variant	-	NC_000012.12:g.102840400T>C	gnomAD
PAH	P00439	p.Ser439Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102839218C>G	NCI-TCGA
PAH	P00439	p.Ser439Asn	rs775391163	missense variant	-	NC_000012.12:g.102839218C>T	ExAC,gnomAD
PAH	P00439	p.Ile441Thr	rs1447503178	missense variant	-	NC_000012.12:g.102839212A>G	TOPMed
PAH	P00439	p.Gly442Arg	COSM2063910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102839210C>T	NCI-TCGA Cosmic
PAH	P00439	p.Ile443Met	rs1285012083	missense variant	-	NC_000012.12:g.102839205G>C	TOPMed
PAH	P00439	p.Leu444Ile	rs1402168594	missense variant	-	NC_000012.12:g.102839204G>T	TOPMed,gnomAD
PAH	P00439	p.Leu444Phe	rs1402168594	missense variant	-	NC_000012.12:g.102839204G>A	TOPMed,gnomAD
PAH	P00439	p.Leu444Phe	RCV000666307	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102839204G>A	ClinVar
PAH	P00439	p.Cys445Phe	COSM1561882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.102839200C>A	NCI-TCGA Cosmic
PAH	P00439	p.Ser446Asn	rs770906256	missense variant	-	NC_000012.12:g.102839197C>T	ExAC,gnomAD
PAH	P00439	p.Ser446Gly	rs565686453	missense variant	-	NC_000012.12:g.102839198T>C	1000Genomes,TOPMed,gnomAD
PAH	P00439	p.Ala447Thr	rs1192400891	missense variant	-	NC_000012.12:g.102839195C>T	TOPMed,gnomAD
PAH	P00439	p.Ala447Asp	RCV000088834	missense variant	-	NC_000012.12:g.102839194G>T	ClinVar
PAH	P00439	p.Ala447Asp	rs76542238	missense variant	-	NC_000012.12:g.102839194G>T	ExAC,TOPMed,gnomAD
PAH	P00439	p.Ala447Asp	rs76542238	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102839194G>T	UniProt,dbSNP
PAH	P00439	p.Ala447Asp	VAR_001042	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102839194G>T	UniProt
PAH	P00439	p.Ala447Asp	RCV000632880	missense variant	Phenylketonuria (PKU)	NC_000012.12:g.102839194G>T	ClinVar
PAH	P00439	p.Ala447Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.102839194G>A	NCI-TCGA
PAH	P00439	p.Leu448His	rs769777460	missense variant	-	NC_000012.12:g.102839191A>T	ExAC,gnomAD
PAH	P00439	p.Gln449His	rs1258710210	missense variant	-	NC_000012.12:g.102839187C>G	TOPMed,gnomAD
PAH	P00439	p.Gln449Arg	rs1441742009	missense variant	-	NC_000012.12:g.102839188T>C	gnomAD
PAH	P00439	p.Gln449His	rs1258710210	missense variant	-	NC_000012.12:g.102839187C>A	TOPMed,gnomAD
PAH	P00439	p.Ile451Thr	rs781041737	missense variant	-	NC_000012.12:g.102839182A>G	ExAC,gnomAD
PAH	P00439	p.Ter453Val	RCV000088835	frameshift	-	NC_000012.12:g.102839181dup	ClinVar
PAH	P00439	p.Ter453Pro	RCV000724595	stop lost	-	NC_000012.12:g.102839173_102839177CTTTA[1]	ClinVar
PAH	P00439	p.Ter453Pro	RCV000174462	stop lost	Phenylketonuria (PKU)	NC_000012.12:g.102839173_102839177CTTTA[1]	ClinVar
PAH	P00439	p.Ter453Val	RCV000169511	frameshift	Phenylketonuria (PKU)	NC_000012.12:g.102839181dup	ClinVar
F13A1	P00488	p.Ser2Pro	rs557825091	missense variant	-	NC_000006.12:g.6318661A>G	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Ser2Ala	rs557825091	missense variant	-	NC_000006.12:g.6318661A>C	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Ser2Leu	rs757892043	missense variant	-	NC_000006.12:g.6318660G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg6Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6318648C>A	NCI-TCGA
F13A1	P00488	p.Arg6Lys	COSM1080910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6318648C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Thr7Ile	rs749947217	missense variant	-	NC_000006.12:g.6318645G>A	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Thr7Ile	rs749947217	missense variant	-	NC_000006.12:g.6318645G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala8Val	rs931241469	missense variant	-	NC_000006.12:g.6318642G>A	TOPMed
F13A1	P00488	p.Ala8Thr	rs138865075	missense variant	-	NC_000006.12:g.6318643C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala8Thr	rs138865075	missense variant	-	NC_000006.12:g.6318643C>T	NCI-TCGA
F13A1	P00488	p.Phe9Ser	rs919588838	missense variant	-	NC_000006.12:g.6318639A>G	TOPMed,gnomAD
F13A1	P00488	p.Gly10Glu	COSM6107263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6318636C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Gly11Asp	rs1460578991	missense variant	-	NC_000006.12:g.6318633C>T	TOPMed
F13A1	P00488	p.Arg12Gly	rs763927187	missense variant	-	NC_000006.12:g.6318631T>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala14Val	rs760607637	missense variant	-	NC_000006.12:g.6318624G>A	ExAC,gnomAD
F13A1	P00488	p.Ala14Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6318625C>T	NCI-TCGA
F13A1	P00488	p.Val15Ile	rs367893759	missense variant	-	NC_000006.12:g.6318622C>T	ESP,ExAC,gnomAD
F13A1	P00488	p.Val15Phe	rs367893759	missense variant	-	NC_000006.12:g.6318622C>A	ESP,ExAC,gnomAD
F13A1	P00488	p.Pro16Ser	COSM3629151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6318619G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Asn18Ser	rs1423535868	missense variant	-	NC_000006.12:g.6318612T>C	TOPMed,gnomAD
F13A1	P00488	p.Ser20Cys	rs774246884	missense variant	-	NC_000006.12:g.6318606G>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala23Val	rs763103004	missense variant	-	NC_000006.12:g.6318597G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala23Val	rs763103004	missense variant	-	NC_000006.12:g.6318597G>A	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Ala23Glu	rs763103004	missense variant	-	NC_000006.12:g.6318597G>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp25Gly	rs1359737567	missense variant	-	NC_000006.12:g.6318591T>C	TOPMed
F13A1	P00488	p.Asp26Gly	COSM5760258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6318588T>C	NCI-TCGA Cosmic
F13A1	P00488	p.Leu27Pro	rs781705895	missense variant	-	NC_000006.12:g.6318585A>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Pro28Leu	rs1290002388	missense variant	-	NC_000006.12:g.6318582G>A	TOPMed
F13A1	P00488	p.Pro28Leu	rs1290002388	missense variant	-	NC_000006.12:g.6318582G>A	NCI-TCGA
F13A1	P00488	p.Val30Met	rs1447842650	missense variant	-	NC_000006.12:g.6318577C>T	gnomAD
F13A1	P00488	p.Glu31Ter	COSM743379	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6318574C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Leu32Phe	rs1407961299	missense variant	-	NC_000006.12:g.6318571G>A	TOPMed,gnomAD
F13A1	P00488	p.Gln33Lys	rs747587256	missense variant	-	NC_000006.12:g.6318568G>T	ExAC,gnomAD
F13A1	P00488	p.Gln33His	rs1426746412	missense variant	-	NC_000006.12:g.6318566C>G	TOPMed
F13A1	P00488	p.Gly34Val	rs778222128	missense variant	-	NC_000006.12:g.6318564C>A	ExAC,TOPMed
F13A1	P00488	p.Val35Met	rs5985	missense variant	-	NC_000006.12:g.6318562C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val35Leu	rs5985	missense variant	-	NC_000006.12:g.6318562C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val35Ala	rs540456397	missense variant	-	NC_000006.12:g.6318561A>G	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Val36Gly	rs752589234	missense variant	-	NC_000006.12:g.6318558A>C	ExAC
F13A1	P00488	p.Pro37Ser	rs1457742972	missense variant	-	NC_000006.12:g.6318556G>A	gnomAD
F13A1	P00488	p.Arg38Trp	rs1328344901	missense variant	-	NC_000006.12:g.6318553G>A	TOPMed,gnomAD
F13A1	P00488	p.Arg38Gln	rs759324596	missense variant	-	NC_000006.12:g.6318552C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly39Ser	rs1471936838	missense variant	-	NC_000006.12:g.6318550C>T	gnomAD
F13A1	P00488	p.Val40Ile	rs3024472	missense variant	-	NC_000006.12:g.6318547C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asn41Ser	rs770047613	missense variant	-	NC_000006.12:g.6318543T>C	ExAC,gnomAD
F13A1	P00488	p.Leu42Met	rs1265557322	missense variant	-	NC_000006.12:g.6318541G>T	TOPMed,gnomAD
F13A1	P00488	p.Leu42Pro	rs762041584	missense variant	-	NC_000006.12:g.6318540A>G	ExAC,gnomAD
F13A1	P00488	p.Gln43Ter	rs776816717	stop gained	-	NC_000006.12:g.6318538G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gln43His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6318536T>G	NCI-TCGA
F13A1	P00488	p.Glu44Asp	rs148065753	missense variant	-	NC_000006.12:g.6305538C>G	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu44Asp	rs148065753	missense variant	-	NC_000006.12:g.6305538C>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu44Gly	rs1388475195	missense variant	-	NC_000006.12:g.6305539T>C	gnomAD
F13A1	P00488	p.Phe45Leu	rs1172080141	missense variant	-	NC_000006.12:g.6305537A>G	gnomAD
F13A1	P00488	p.Leu46Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6305534G>T	NCI-TCGA
F13A1	P00488	p.Asn47His	rs780962981	missense variant	-	NC_000006.12:g.6305531T>G	ExAC,gnomAD
F13A1	P00488	p.Asn47Tyr	rs780962981	missense variant	-	NC_000006.12:g.6305531T>A	ExAC,gnomAD
F13A1	P00488	p.Val48Ile	rs754697772	missense variant	-	NC_000006.12:g.6305528C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Thr49Met	rs143616920	missense variant	-	NC_000006.12:g.6305524G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ser50Asn	rs1377346666	missense variant	-	NC_000006.12:g.6305521C>T	TOPMed
F13A1	P00488	p.Val51Ile	rs750361933	missense variant	-	NC_000006.12:g.6305519C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Phe54Ile	rs138690353	missense variant	-	NC_000006.12:g.6305510A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Phe54Leu	rs138690353	missense variant	-	NC_000006.12:g.6305510A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg57Lys	rs1219765079	missense variant	-	NC_000006.12:g.6305500C>T	TOPMed
F13A1	P00488	p.Trp58Arg	rs754004931	missense variant	-	NC_000006.12:g.6305498A>T	ExAC,gnomAD
F13A1	P00488	p.Trp58Leu	COSM6174792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305497C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Asp59Asn	rs914446893	missense variant	-	NC_000006.12:g.6305495C>T	TOPMed,gnomAD
F13A1	P00488	p.Asn61Lys	rs121913067	missense variant	-	NC_000006.12:g.6305487G>T	-
F13A1	P00488	p.Lys62Asn	COSM743380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305484C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Val63Ala	rs764420101	missense variant	-	NC_000006.12:g.6305482A>G	ExAC,gnomAD
F13A1	P00488	p.Val63Leu	COSM743382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305483C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Asp64Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6305480C>T	NCI-TCGA
F13A1	P00488	p.Thr67Asn	COSM6107265	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305470G>T	NCI-TCGA Cosmic
F13A1	P00488	p.Asp68Asn	COSM3160109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305468C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Glu71Lys	rs267601095	missense variant	-	NC_000006.12:g.6305459C>T	-
F13A1	P00488	p.Asn72Lys	rs1285216737	missense variant	-	NC_000006.12:g.6305454G>T	gnomAD
F13A1	P00488	p.Leu75Arg	rs1244093247	missense variant	-	NC_000006.12:g.6305446A>C	gnomAD
F13A1	P00488	p.Leu75Val	rs1200131413	missense variant	-	NC_000006.12:g.6305447G>C	TOPMed
F13A1	P00488	p.Ile76Thr	rs775876960	missense variant	-	NC_000006.12:g.6305443A>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg78His	rs768024997	missense variant	-	NC_000006.12:g.6305437C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg78Cys	rs760818476	missense variant	-	NC_000006.12:g.6305438G>A	TOPMed,gnomAD
F13A1	P00488	p.Arg78Leu	COSM6107266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305437C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Arg79Lys	rs267601094	missense variant	-	NC_000006.12:g.6305434C>T	-
F13A1	P00488	p.Gly80Arg	rs1166766083	missense variant	-	NC_000006.12:g.6305432C>T	gnomAD
F13A1	P00488	p.Phe83Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6305421G>T	NCI-TCGA
F13A1	P00488	p.Val85Gly	rs1414788255	missense variant	-	NC_000006.12:g.6305416A>C	gnomAD
F13A1	P00488	p.Gln86Glu	rs1183395316	missense variant	-	NC_000006.12:g.6305414G>C	gnomAD
F13A1	P00488	p.Gln86His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6305412C>G	NCI-TCGA
F13A1	P00488	p.Ser90Gly	rs956116816	missense variant	-	NC_000006.12:g.6305402T>C	TOPMed,gnomAD
F13A1	P00488	p.Arg91Cys	rs775055566	missense variant	-	NC_000006.12:g.6305399G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg91His	rs769424362	missense variant	-	NC_000006.12:g.6305398C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp94Tyr	rs1203791516	missense variant	-	NC_000006.12:g.6305390C>A	TOPMed,gnomAD
F13A1	P00488	p.Asp94Glu	rs768303192	missense variant	-	NC_000006.12:g.6305388G>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Pro95Leu	rs746668502	missense variant	-	NC_000006.12:g.6305386G>A	ExAC,gnomAD
F13A1	P00488	p.Asp98Tyr	rs1399897211	missense variant	-	NC_000006.12:g.6305378C>A	TOPMed
F13A1	P00488	p.Leu99Phe	COSM3629146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305375G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Tyr104His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6305360A>G	NCI-TCGA
F13A1	P00488	p.Tyr104Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.6305358G>T	NCI-TCGA
F13A1	P00488	p.Val105Ala	rs1326555460	missense variant	-	NC_000006.12:g.6305356A>G	TOPMed
F13A1	P00488	p.Val105Ile	rs868565007	missense variant	-	NC_000006.12:g.6305357C>T	gnomAD
F13A1	P00488	p.Ile106Thr	rs1306326542	missense variant	-	NC_000006.12:g.6305353A>G	gnomAD
F13A1	P00488	p.Arg108Cys	rs751922706	missense variant	-	NC_000006.12:g.6266807G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg108Leu	rs145761347	missense variant	-	NC_000006.12:g.6266806C>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg108His	rs145761347	missense variant	-	NC_000006.12:g.6266806C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Pro110Thr	rs1173364213	missense variant	-	NC_000006.12:g.6266801G>T	gnomAD
F13A1	P00488	p.Asn113Lys	rs750903866	missense variant	-	NC_000006.12:g.6266790G>C	ExAC,gnomAD
F13A1	P00488	p.Lys114Arg	rs1472604597	missense variant	-	NC_000006.12:g.6266788T>C	TOPMed
F13A1	P00488	p.Gly115Glu	rs1447248884	missense variant	-	NC_000006.12:g.6266785C>T	gnomAD
F13A1	P00488	p.Gly115Arg	rs763649812	missense variant	-	NC_000006.12:g.6266786C>T	ExAC,gnomAD
F13A1	P00488	p.Thr116Ile	rs771763854	missense variant	-	NC_000006.12:g.6266782G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Thr116Asn	rs771763854	missense variant	-	NC_000006.12:g.6266782G>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ile118Thr	rs759210544	missense variant	-	NC_000006.12:g.6266776A>G	ExAC,gnomAD
F13A1	P00488	p.Val120Met	rs774094090	missense variant	-	NC_000006.12:g.6266771C>T	ExAC,gnomAD
F13A1	P00488	p.Val120Ala	rs1185244838	missense variant	-	NC_000006.12:g.6266770A>G	gnomAD
F13A1	P00488	p.Val120Leu	rs774094090	missense variant	-	NC_000006.12:g.6266771C>G	ExAC,gnomAD
F13A1	P00488	p.Ile122Val	rs142064728	missense variant	-	NC_000006.12:g.6266765T>C	ESP,ExAC,gnomAD
F13A1	P00488	p.Ile122Thr	rs777638115	missense variant	-	NC_000006.12:g.6266764A>G	ExAC,gnomAD
F13A1	P00488	p.Glu125Asp	rs147577601	missense variant	-	NC_000006.12:g.6266754C>G	ESP,ExAC,gnomAD
F13A1	P00488	p.Leu126Phe	rs748285860	missense variant	-	NC_000006.12:g.6266751T>G	ExAC,gnomAD
F13A1	P00488	p.Gln127Arg	rs1050673198	missense variant	-	NC_000006.12:g.6266749T>C	gnomAD
F13A1	P00488	p.Gln127Ter	rs150249786	stop gained	-	NC_000006.12:g.6266750G>A	ESP,ExAC
F13A1	P00488	p.Gly129Arg	rs755208423	missense variant	-	NC_000006.12:g.6266744C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly129Ala	rs1300973507	missense variant	-	NC_000006.12:g.6266743C>G	gnomAD
F13A1	P00488	p.Gly129Ter	COSM6174797	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6266744C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Lys130Thr	rs1320974899	missense variant	-	NC_000006.12:g.6266740T>G	TOPMed
F13A1	P00488	p.Lys130Asn	rs780404652	missense variant	-	NC_000006.12:g.6266739C>A	ExAC,gnomAD
F13A1	P00488	p.Trp131Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.6266736C>T	NCI-TCGA
F13A1	P00488	p.Trp131Ter	rs932213198	stop gained	-	NC_000006.12:g.6266737C>T	TOPMed,gnomAD
F13A1	P00488	p.Trp131Ser	rs932213198	missense variant	-	NC_000006.12:g.6266737C>G	TOPMed,gnomAD
F13A1	P00488	p.Ala133Val	rs1236867771	missense variant	-	NC_000006.12:g.6266731G>A	TOPMed,gnomAD
F13A1	P00488	p.Ala133ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6266732C>-	NCI-TCGA
F13A1	P00488	p.Ala133Ser	rs141030077	missense variant	-	NC_000006.12:g.6266732C>A	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ile135Val	rs1243622825	missense variant	-	NC_000006.12:g.6266726T>C	TOPMed
F13A1	P00488	p.Val136Phe	rs1282004652	missense variant	-	NC_000006.12:g.6266723C>A	TOPMed
F13A1	P00488	p.Arg138Lys	rs202087752	missense variant	-	NC_000006.12:g.6266716C>T	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg138Ile	rs202087752	missense variant	-	NC_000006.12:g.6266716C>A	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg138Thr	rs202087752	missense variant	-	NC_000006.12:g.6266716C>G	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg138Gly	rs1424720526	missense variant	-	NC_000006.12:g.6266717T>C	gnomAD
F13A1	P00488	p.Glu139Gln	rs1439029722	missense variant	-	NC_000006.12:g.6266714C>G	gnomAD
F13A1	P00488	p.Asp140Gly	rs1485613814	missense variant	-	NC_000006.12:g.6266710T>C	gnomAD
F13A1	P00488	p.Arg141Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6266707C>A	NCI-TCGA
F13A1	P00488	p.Arg144Trp	rs767046666	missense variant	-	NC_000006.12:g.6266699G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg144Gln	rs142954620	missense variant	-	NC_000006.12:g.6266698C>T	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ser146Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6266693A>G	NCI-TCGA
F13A1	P00488	p.Ser150Phe	COSM3160076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266680G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Cys153Ser	rs762694348	missense variant	-	NC_000006.12:g.6266672A>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Cys153Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6266671C>G	NCI-TCGA
F13A1	P00488	p.Ile154Thr	rs542893144	missense variant	-	NC_000006.12:g.6266668A>G	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly156Arg	rs1470617346	missense variant	-	NC_000006.12:g.6266663C>T	TOPMed
F13A1	P00488	p.Lys157GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6266660_6266661insC	NCI-TCGA
F13A1	P00488	p.Lys157Arg	rs748126574	missense variant	-	NC_000006.12:g.6266659T>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg159Leu	rs747218826	missense variant	-	NC_000006.12:g.6266653C>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg159Cys	rs776782223	missense variant	-	NC_000006.12:g.6266654G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg159His	rs747218826	missense variant	-	NC_000006.12:g.6266653C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Met160Thr	rs1369592641	missense variant	-	NC_000006.12:g.6266650A>G	TOPMed,gnomAD
F13A1	P00488	p.Tyr161Asn	COSM743384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266648A>T	NCI-TCGA Cosmic
F13A1	P00488	p.Val164Leu	rs758761831	missense variant	-	NC_000006.12:g.6266639C>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val164Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6266639C>T	NCI-TCGA
F13A1	P00488	p.Trp165Arg	rs1331616917	missense variant	-	NC_000006.12:g.6266636A>G	TOPMed
F13A1	P00488	p.Pro167Leu	rs746272012	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6266629G>A	UniProt,dbSNP
F13A1	P00488	p.Pro167Leu	VAR_074280	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6266629G>A	UniProt
F13A1	P00488	p.Pro167Leu	rs746272012	missense variant	-	NC_000006.12:g.6266629G>A	ExAC,gnomAD
F13A1	P00488	p.Tyr168Cys	rs779361778	missense variant	-	NC_000006.12:g.6266626T>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Tyr168Ser	rs779361778	missense variant	-	NC_000006.12:g.6266626T>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Tyr168Phe	rs779361778	missense variant	-	NC_000006.12:g.6266626T>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly169Ser	rs1482093853	missense variant	-	NC_000006.12:g.6266624C>T	TOPMed,gnomAD
F13A1	P00488	p.Gly169Asp	COSM3160072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266623C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Val170Ile	rs140712764	missense variant	-	NC_000006.12:g.6266621C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg172Gln	rs376147795	missense variant	-	NC_000006.12:g.6266614C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg172Ter	rs121913065	stop gained	-	NC_000006.12:g.6266615G>A	ExAC,gnomAD
F13A1	P00488	p.Thr173Ala	rs142994919	missense variant	-	NC_000006.12:g.6266612T>C	ESP,TOPMed,gnomAD
F13A1	P00488	p.Thr173Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6266611G>T	NCI-TCGA
F13A1	P00488	p.Thr173AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6266613_6266614insC	NCI-TCGA
F13A1	P00488	p.Thr173Ile	rs1306300718	missense variant	-	NC_000006.12:g.6266611G>A	TOPMed,gnomAD
F13A1	P00488	p.Ser174Ile	rs1290093487	missense variant	-	NC_000006.12:g.6266608C>A	gnomAD
F13A1	P00488	p.Arg175Ter	rs765995544	stop gained	-	NC_000006.12:g.6266606G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg175Gln	rs538605561	missense variant	-	NC_000006.12:g.6266605C>T	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asn176Ser	rs772842511	missense variant	-	NC_000006.12:g.6266602T>C	ExAC,gnomAD
F13A1	P00488	p.Pro177Gln	rs139753440	missense variant	-	NC_000006.12:g.6266599G>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Pro177Leu	rs139753440	missense variant	-	NC_000006.12:g.6266599G>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Pro177Ser	rs765124973	missense variant	-	NC_000006.12:g.6266600G>A	ExAC,gnomAD
F13A1	P00488	p.Thr181Met	rs768849968	missense variant	-	NC_000006.12:g.6266587G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ile183Val	rs1465452934	missense variant	-	NC_000006.12:g.6266582T>C	TOPMed
F13A1	P00488	p.Ile183Met	rs1170344639	missense variant	-	NC_000006.12:g.6266580A>C	TOPMed
F13A1	P00488	p.Leu184Phe	COSM3629131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266579G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Asn186Lys	rs1397950225	missense variant	-	NC_000006.12:g.6266571A>T	TOPMed
F13A1	P00488	p.Pro187Ser	COSM3629130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266570G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Trp188Cys	COSM6174800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266565C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Glu190Lys	rs772140446	missense variant	-	NC_000006.12:g.6266561C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu190Asp	rs746136297	missense variant	-	NC_000006.12:g.6266559T>A	ExAC,gnomAD
F13A1	P00488	p.Ala193Thr	rs1157045865	missense variant	-	NC_000006.12:g.6250924C>T	TOPMed
F13A1	P00488	p.Val194Met	rs779369218	missense variant	-	NC_000006.12:g.6250921C>T	ExAC,gnomAD
F13A1	P00488	p.Tyr195Cys	rs750037139	missense variant	-	NC_000006.12:g.6250917T>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Tyr195Phe	rs750037139	missense variant	-	NC_000006.12:g.6250917T>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Tyr195His	rs757980183	missense variant	-	NC_000006.12:g.6250918A>G	ExAC,gnomAD
F13A1	P00488	p.Leu196Met	rs778745917	missense variant	-	NC_000006.12:g.6250915G>T	ExAC,gnomAD
F13A1	P00488	p.Asp197Asn	COSM1080885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6250912C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Asn198Asp	rs983461176	missense variant	-	NC_000006.12:g.6250909T>C	TOPMed,gnomAD
F13A1	P00488	p.Asn198His	rs983461176	missense variant	-	NC_000006.12:g.6250909T>G	TOPMed,gnomAD
F13A1	P00488	p.Glu201Asp	rs541763681	missense variant	-	NC_000006.12:g.6250898T>A	1000Genomes,ExAC
F13A1	P00488	p.Arg202Lys	rs146801542	missense variant	-	NC_000006.12:g.6250896C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu204Lys	rs764016912	missense variant	-	NC_000006.12:g.6250891C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu204Asp	rs1392183948	missense variant	-	NC_000006.12:g.6250889C>G	TOPMed,gnomAD
F13A1	P00488	p.Glu204Gly	rs760467093	missense variant	-	NC_000006.12:g.6250890T>C	ExAC,gnomAD
F13A1	P00488	p.Tyr205Phe	rs3024477	missense variant	-	NC_000006.12:g.6250887T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val206Ile	rs767481854	missense variant	-	NC_000006.12:g.6250885C>T	ExAC,gnomAD
F13A1	P00488	p.Val206Ala	rs759730315	missense variant	-	NC_000006.12:g.6250884A>G	ExAC,gnomAD
F13A1	P00488	p.Gly211Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6250870C>A	NCI-TCGA
F13A1	P00488	p.Gly211Arg	rs1205172031	missense variant	-	NC_000006.12:g.6250870C>T	TOPMed,gnomAD
F13A1	P00488	p.Ile213Phe	rs771091417	missense variant	-	NC_000006.12:g.6250864T>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ile213Val	rs771091417	missense variant	-	NC_000006.12:g.6250864T>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Tyr215Phe	rs373039706	missense variant	-	NC_000006.12:g.6250857T>A	ESP,ExAC,gnomAD
F13A1	P00488	p.Gly216Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6250854C>A	NCI-TCGA
F13A1	P00488	p.Glu217Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.6250852C>A	NCI-TCGA
F13A1	P00488	p.Glu217Gln	rs773499545	missense variant	-	NC_000006.12:g.6250852C>G	ExAC,gnomAD
F13A1	P00488	p.Asn219Ser	rs1179323389	missense variant	-	NC_000006.12:g.6250845T>C	TOPMed
F13A1	P00488	p.Asp220Tyr	rs1339185125	missense variant	-	NC_000006.12:g.6250843C>A	gnomAD
F13A1	P00488	p.Ile221Asn	rs1472561924	missense variant	-	NC_000006.12:g.6250839A>T	TOPMed
F13A1	P00488	p.Arg224Gly	rs1180596453	missense variant	-	NC_000006.12:g.6250831T>C	TOPMed
F13A1	P00488	p.Tyr228Cys	rs1354109618	missense variant	-	NC_000006.12:g.6250818T>C	gnomAD
F13A1	P00488	p.Gln230Ter	rs1312356326	stop gained	-	NC_000006.12:g.6250813G>A	gnomAD
F13A1	P00488	p.Glu232Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6248416C>T	NCI-TCGA
F13A1	P00488	p.Ile235Asn	rs770582130	missense variant	-	NC_000006.12:g.6248406A>T	ExAC,gnomAD
F13A1	P00488	p.Leu236Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6248403A>G	NCI-TCGA
F13A1	P00488	p.Asp237Gly	rs1295891442	missense variant	-	NC_000006.12:g.6248400T>C	TOPMed
F13A1	P00488	p.Cys239Ter	COSM4942983	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6248393G>T	NCI-TCGA Cosmic
F13A1	P00488	p.Tyr241Ter	rs1176119481	stop gained	-	NC_000006.12:g.6248387A>C	TOPMed,gnomAD
F13A1	P00488	p.Met243Ile	rs952779640	missense variant	-	NC_000006.12:g.6248381C>T	TOPMed
F13A1	P00488	p.Met243Thr	rs267606788	missense variant	-	NC_000006.12:g.6248382A>G	-
F13A1	P00488	p.Arg245Gly	rs777549119	missense variant	-	NC_000006.12:g.6248377T>C	ExAC,gnomAD
F13A1	P00488	p.Ala246Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6248373G>A	NCI-TCGA
F13A1	P00488	p.Gln247His	rs146083032	missense variant	-	NC_000006.12:g.6248369T>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Met248Thr	rs577966272	missense variant	-	NC_000006.12:g.6248367A>G	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp249Val	rs754876753	missense variant	-	NC_000006.12:g.6248364T>A	ExAC,gnomAD
F13A1	P00488	p.Ser251Tyr	rs751510437	missense variant	-	NC_000006.12:g.6248358G>T	ExAC,gnomAD
F13A1	P00488	p.Gly254Arg	rs1276792457	missense variant	-	NC_000006.12:g.6248350C>T	gnomAD
F13A1	P00488	p.Lys258Arg	rs142092590	missense variant	-	NC_000006.12:g.6248337T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val259Leu	rs761960891	missense variant	-	NC_000006.12:g.6248335C>G	ExAC
F13A1	P00488	p.Arg261Cys	rs1458820365	missense variant	-	NC_000006.12:g.6248329G>A	gnomAD
F13A1	P00488	p.Arg261His	rs121913071	missense variant	-	NC_000006.12:g.6248328C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg261Leu	rs121913071	missense variant	-	NC_000006.12:g.6248328C>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg261Pro	rs121913071	missense variant	-	NC_000006.12:g.6248328C>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly263Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6248322C>T	NCI-TCGA
F13A1	P00488	p.Gly263Arg	rs1414492888	missense variant	-	NC_000006.12:g.6248323C>T	gnomAD
F13A1	P00488	p.Gly263Val	rs1452419015	missense variant	-	NC_000006.12:g.6248322C>A	TOPMed
F13A1	P00488	p.Ser264Phe	rs1191402172	missense variant	-	NC_000006.12:g.6248319G>A	gnomAD
F13A1	P00488	p.Val267Met	rs537101736	missense variant	-	NC_000006.12:g.6224860C>T	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Asn268Lys	rs1186497580	missense variant	-	NC_000006.12:g.6224855A>T	gnomAD
F13A1	P00488	p.Ala269Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6224853G>T	NCI-TCGA
F13A1	P00488	p.Ala269Val	COSM272653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224853G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Asp271Gly	rs1259783245	missense variant	-	NC_000006.12:g.6224847T>C	gnomAD
F13A1	P00488	p.Asp272Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6224844T>C	NCI-TCGA
F13A1	P00488	p.Glu273Lys	rs761188694	missense variant	-	NC_000006.12:g.6224842C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly274Asp	rs1303550782	missense variant	-	NC_000006.12:g.6224838C>T	gnomAD
F13A1	P00488	p.Gly274Val	VAR_074282	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
F13A1	P00488	p.Val277Leu	rs764249755	missense variant	-	NC_000006.12:g.6224830C>G	TOPMed,gnomAD
F13A1	P00488	p.Val277Ala	rs1305588852	missense variant	-	NC_000006.12:g.6224829A>G	gnomAD
F13A1	P00488	p.Val277Ile	rs764249755	missense variant	-	NC_000006.12:g.6224830C>T	TOPMed,gnomAD
F13A1	P00488	p.Gly278Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6224826C>T	NCI-TCGA
F13A1	P00488	p.Trp280Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6224820C>A	NCI-TCGA
F13A1	P00488	p.Trp280Ter	COSM3629119	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6224819C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Asn282Asp	rs760143900	missense variant	-	NC_000006.12:g.6224815T>C	ExAC,gnomAD
F13A1	P00488	p.Tyr284Cys	rs121913074	missense variant	-	NC_000006.12:g.6224808T>C	-
F13A1	P00488	p.Ala285Val	rs1310541583	missense variant	-	NC_000006.12:g.6224805G>A	TOPMed,gnomAD
F13A1	P00488	p.Tyr286Cys	rs769199269	missense variant	-	NC_000006.12:g.6224802T>C	ExAC,gnomAD
F13A1	P00488	p.Tyr286His	COSM3875054	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224803A>G	NCI-TCGA Cosmic
F13A1	P00488	p.Val288Ile	rs370205818	missense variant	-	NC_000006.12:g.6224797C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val288Asp	COSM4393293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224796A>T	NCI-TCGA Cosmic
F13A1	P00488	p.Pro289Thr	rs201752338	missense variant	-	NC_000006.12:g.6224794G>T	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Pro289Arg	rs779843015	missense variant	-	NC_000006.12:g.6224793G>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Pro290Gln	rs745800442	missense variant	-	NC_000006.12:g.6224790G>T	ExAC,gnomAD
F13A1	P00488	p.Pro290Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6224791G>T	NCI-TCGA
F13A1	P00488	p.Pro290Ala	rs771954184	missense variant	-	NC_000006.12:g.6224791G>C	ExAC,gnomAD
F13A1	P00488	p.Pro290Leu	COSM3629118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224790G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Pro290HisPheSerTerUnkUnk	COSM1445524	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6224790G>-	NCI-TCGA Cosmic
F13A1	P00488	p.Pro290Arg	VAR_077621	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
F13A1	P00488	p.Ser291IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6224789_6224790insG	NCI-TCGA
F13A1	P00488	p.Ser291Leu	rs1252588034	missense variant	-	NC_000006.12:g.6224787G>A	TOPMed,gnomAD
F13A1	P00488	p.Ala292Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6224784G>T	NCI-TCGA
F13A1	P00488	p.Ser296Asn	rs535694758	missense variant	-	NC_000006.12:g.6224772C>T	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Val297Ile	rs199564311	missense variant	-	NC_000006.12:g.6224770C>T	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Val297Ile	rs199564311	missense variant	-	NC_000006.12:g.6224770C>T	1000Genomes,ExAC,TOPMed
F13A1	P00488	p.Asp298Asn	rs753065093	missense variant	-	NC_000006.12:g.6224767C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp298Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6224765G>T	NCI-TCGA
F13A1	P00488	p.Tyr303His	rs201512428	missense variant	-	NC_000006.12:g.6224752A>G	gnomAD
F13A1	P00488	p.Arg304Trp	rs760061730	missense variant	-	NC_000006.12:g.6224749G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg304Gln	rs139164988	missense variant	-	NC_000006.12:g.6224748C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg304Gln	rs139164988	missense variant	-	NC_000006.12:g.6224748C>T	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Ser305Asn	rs1297979227	missense variant	-	NC_000006.12:g.6224745C>T	gnomAD
F13A1	P00488	p.Glu307Asp	rs906062128	missense variant	-	NC_000006.12:g.6224738C>A	TOPMed
F13A1	P00488	p.Asn308Ser	rs764798947	missense variant	-	NC_000006.12:g.6224736T>C	ExAC,gnomAD
F13A1	P00488	p.Arg311Trp	rs796662757	missense variant	-	NC_000006.12:g.6224728G>A	TOPMed,gnomAD
F13A1	P00488	p.Arg311Gln	rs376482294	missense variant	-	NC_000006.12:g.6224727C>T	ESP,gnomAD
F13A1	P00488	p.Arg311Trp	rs796662757	missense variant	-	NC_000006.12:g.6224728G>A	NCI-TCGA
F13A1	P00488	p.Trp316Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6224712C>A	NCI-TCGA
F13A1	P00488	p.Val317Phe	rs121913073	missense variant	-	NC_000006.12:g.6224710C>A	gnomAD
F13A1	P00488	p.Ala319LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6224704C>-	NCI-TCGA
F13A1	P00488	p.Ala319Ser	COSM6107274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224704C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Gly320Val	COSM6107275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224700C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Phe325Leu	rs1417559148	missense variant	-	NC_000006.12:g.6224686A>G	gnomAD
F13A1	P00488	p.Arg327Gln	rs121913072	missense variant	-	NC_000006.12:g.6222165C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg327Ter	rs1224733517	stop gained	-	NC_000006.12:g.6222166G>A	TOPMed
F13A1	P00488	p.Cys328Ser	rs997633697	missense variant	-	NC_000006.12:g.6222163A>T	TOPMed
F13A1	P00488	p.Cys328Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6222162C>A	NCI-TCGA
F13A1	P00488	p.Cys328Ter	rs202247810	stop gained	-	NC_000006.12:g.6222161G>T	gnomAD
F13A1	P00488	p.Gly330Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6222156C>T	NCI-TCGA
F13A1	P00488	p.Gly330Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6222157C>T	NCI-TCGA
F13A1	P00488	p.Pro332Ser	rs1281588775	missense variant	-	NC_000006.12:g.6222151G>A	TOPMed
F13A1	P00488	p.Ala333Thr	rs775184900	missense variant	-	NC_000006.12:g.6222148C>T	ExAC,gnomAD
F13A1	P00488	p.Ala333Gly	rs759294043	missense variant	-	NC_000006.12:g.6222147G>C	ExAC,gnomAD
F13A1	P00488	p.Ala333Val	rs759294043	missense variant	-	NC_000006.12:g.6222147G>A	ExAC,gnomAD
F13A1	P00488	p.Ala333Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6222147G>T	NCI-TCGA
F13A1	P00488	p.Arg334Ile	COSM292860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222144C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Phe340Leu	COSM275033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222125G>T	NCI-TCGA Cosmic
F13A1	P00488	p.His343Tyr	VAR_074283	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
F13A1	P00488	p.Asp346Tyr	rs1234864708	missense variant	-	NC_000006.12:g.6222109C>A	TOPMed
F13A1	P00488	p.Ala347Thr	rs770726002	missense variant	-	NC_000006.12:g.6222106C>T	ExAC,gnomAD
F13A1	P00488	p.Ala347Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6222105G>A	NCI-TCGA
F13A1	P00488	p.Ala347Asp	VAR_074284	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
F13A1	P00488	p.Met351Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6222094T>A	NCI-TCGA
F13A1	P00488	p.Asp352Asn	rs893167528	missense variant	-	NC_000006.12:g.6222091C>T	TOPMed
F13A1	P00488	p.Asp352Glu	COSM6174803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222089G>T	NCI-TCGA Cosmic
F13A1	P00488	p.Ile353Asn	rs749280498	missense variant	-	NC_000006.12:g.6222087A>T	ExAC,gnomAD
F13A1	P00488	p.Phe354Leu	rs770054782	missense variant	-	NC_000006.12:g.6222083G>T	ExAC,gnomAD
F13A1	P00488	p.Phe354SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6222086G>-	NCI-TCGA
F13A1	P00488	p.Phe354Tyr	rs369083276	missense variant	-	NC_000006.12:g.6222084A>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Leu355Val	rs748375844	missense variant	-	NC_000006.12:g.6222082G>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu356Gln	rs755343764	missense variant	-	NC_000006.12:g.6222079C>G	ExAC,gnomAD
F13A1	P00488	p.Glu357Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6222076C>T	NCI-TCGA
F13A1	P00488	p.Asp358Tyr	COSM1080879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222073C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Gly359Arg	COSM1621852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222070C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Val361Met	rs1053107480	missense variant	-	NC_000006.12:g.6222064C>T	TOPMed,gnomAD
F13A1	P00488	p.Val361Leu	rs1053107480	missense variant	-	NC_000006.12:g.6222064C>G	TOPMed,gnomAD
F13A1	P00488	p.Trp371CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6222032_6222033insCACA	NCI-TCGA
F13A1	P00488	p.Trp371Gly	COSM3629116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222034A>C	NCI-TCGA Cosmic
F13A1	P00488	p.Tyr373His	rs1282213947	missense variant	-	NC_000006.12:g.6197322A>G	gnomAD
F13A1	P00488	p.His374Tyr	rs1194623661	missense variant	-	NC_000006.12:g.6197319G>A	TOPMed
F13A1	P00488	p.Cys375Arg	COSM3875052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6197316A>G	NCI-TCGA Cosmic
F13A1	P00488	p.Trp376Arg	VAR_074285	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
F13A1	P00488	p.Trp380Arg	rs779801062	missense variant	-	NC_000006.12:g.6197301A>T	ExAC,gnomAD
F13A1	P00488	p.Met381Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6197298T>C	NCI-TCGA
F13A1	P00488	p.Met381Leu	COSM451703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6197298T>A	NCI-TCGA Cosmic
F13A1	P00488	p.Arg383Ser	rs750203146	missense variant	-	NC_000006.12:g.6197290C>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg383Ser	rs750203146	missense variant	-	NC_000006.12:g.6197290C>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp385His	rs1438384454	missense variant	-	NC_000006.12:g.6197286C>G	gnomAD
F13A1	P00488	p.Leu386Ile	COSM1445522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6197283G>T	NCI-TCGA Cosmic
F13A1	P00488	p.Pro387Leu	rs888232570	missense variant	-	NC_000006.12:g.6197279G>A	TOPMed
F13A1	P00488	p.Pro387His	rs888232570	missense variant	-	NC_000006.12:g.6197279G>T	TOPMed
F13A1	P00488	p.Gly389Glu	rs761783482	missense variant	-	NC_000006.12:g.6197273C>T	ExAC,gnomAD
F13A1	P00488	p.Gly389Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6197274C>T	NCI-TCGA
F13A1	P00488	p.Ala395Val	rs76451285	missense variant	-	NC_000006.12:g.6197255G>A	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp397His	rs1461384823	missense variant	-	NC_000006.12:g.6197250C>G	TOPMed
F13A1	P00488	p.Ser398Asn	rs1310503871	missense variant	-	NC_000006.12:g.6197246C>T	gnomAD
F13A1	P00488	p.Pro400Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6197240G>A	NCI-TCGA
F13A1	P00488	p.Gln401ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6197238G>-	NCI-TCGA
F13A1	P00488	p.Gln401Ter	rs1157725177	stop gained	-	NC_000006.12:g.6197238G>A	gnomAD
F13A1	P00488	p.Ser404Arg	rs537966361	missense variant	-	NC_000006.12:g.6197227G>T	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp405Asn	rs775554234	missense variant	-	NC_000006.12:g.6197226C>T	ExAC,gnomAD
F13A1	P00488	p.Gly406Ala	rs138036988	missense variant	-	NC_000006.12:g.6195885C>G	ESP,ExAC,gnomAD
F13A1	P00488	p.Met407Leu	rs1466465543	missense variant	-	NC_000006.12:g.6195883T>A	TOPMed
F13A1	P00488	p.Arg409Trp	rs752786253	missense variant	-	NC_000006.12:g.6195877G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg409Gln	rs532879106	missense variant	-	NC_000006.12:g.6195876C>T	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Arg409Gln	rs532879106	missense variant	-	NC_000006.12:g.6195876C>T	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Arg409Pro	rs532879106	missense variant	-	NC_000006.12:g.6195876C>G	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Cys410Tyr	rs1277440557	missense variant	-	NC_000006.12:g.6195873C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Cys410Tyr	rs1277440557	missense variant	-	NC_000006.12:g.6195873C>T	gnomAD
F13A1	P00488	p.Gly411Ala	rs1233787620	missense variant	-	NC_000006.12:g.6195870C>G	gnomAD
F13A1	P00488	p.Ala413Thr	rs139636536	missense variant	-	NC_000006.12:g.6195865C>T	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ser414Leu	rs1396702202	missense variant	-	NC_000006.12:g.6195861G>A	TOPMed,gnomAD
F13A1	P00488	p.Ser414Leu	rs1396702202	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6195861G>A	UniProt,dbSNP
F13A1	P00488	p.Ser414Leu	VAR_074286	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6195861G>A	UniProt
F13A1	P00488	p.Ser414Leu	rs1396702202	missense variant	-	NC_000006.12:g.6195861G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Val415Phe	rs121913070	missense variant	-	NC_000006.12:g.6195859C>A	gnomAD
F13A1	P00488	p.Gln416Arg	VAR_074287	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
F13A1	P00488	p.Ile418Thr	rs1164034636	missense variant	-	NC_000006.12:g.6195849A>G	TOPMed
F13A1	P00488	p.Lys419Arg	rs931153830	missense variant	-	NC_000006.12:g.6195846T>C	TOPMed,gnomAD
F13A1	P00488	p.Gly421Ser	rs770291227	missense variant	-	NC_000006.12:g.6195841C>T	ExAC,gnomAD
F13A1	P00488	p.Gly421Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6195840C>T	NCI-TCGA
F13A1	P00488	p.Gly421Arg	rs770291227	missense variant	-	NC_000006.12:g.6195841C>G	ExAC,gnomAD
F13A1	P00488	p.Val423Ile	COSM3411232	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6195835C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Cys424Tyr	rs371619552	missense variant	-	NC_000006.12:g.6195831C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Phe425Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6195829A>G	NCI-TCGA
F13A1	P00488	p.Phe427Leu	rs1263527621	missense variant	-	NC_000006.12:g.6195823A>G	gnomAD
F13A1	P00488	p.Asp428Asn	rs1185815070	missense variant	-	NC_000006.12:g.6195820C>T	gnomAD
F13A1	P00488	p.Asp428Glu	rs1380077657	missense variant	-	NC_000006.12:g.6195818A>C	TOPMed
F13A1	P00488	p.Ala429Val	rs143513902	missense variant	-	NC_000006.12:g.6195816G>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala429Ser	rs547712318	missense variant	-	NC_000006.12:g.6195817C>A	gnomAD
F13A1	P00488	p.Ala429Thr	rs547712318	missense variant	-	NC_000006.12:g.6195817C>T	gnomAD
F13A1	P00488	p.Ala429Val	rs143513902	missense variant	-	NC_000006.12:g.6195816G>A	NCI-TCGA
F13A1	P00488	p.Phe433Ser	COSM280915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6195804A>G	NCI-TCGA Cosmic
F13A1	P00488	p.Asn437Lys	rs1386683277	missense variant	-	NC_000006.12:g.6182136G>C	gnomAD
F13A1	P00488	p.Asp439Asn	rs145376560	missense variant	-	NC_000006.12:g.6182132C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp439Asn	rs145376560	missense variant	-	NC_000006.12:g.6182132C>T	NCI-TCGA
F13A1	P00488	p.Leu440Phe	rs1451897876	missense variant	-	NC_000006.12:g.6182129G>A	gnomAD
F13A1	P00488	p.Leu440His	COSM1487872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6182128A>T	NCI-TCGA Cosmic
F13A1	P00488	p.Tyr442Ter	rs121913066	stop gained	-	NC_000006.12:g.6182121G>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala445Val	rs998838483	missense variant	-	NC_000006.12:g.6182113G>A	TOPMed
F13A1	P00488	p.Ala445Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6182114C>A	NCI-TCGA
F13A1	P00488	p.Lys446Glu	rs754929237	missense variant	-	NC_000006.12:g.6182111T>C	ExAC
F13A1	P00488	p.Asp448Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6182103A>T	NCI-TCGA
F13A1	P00488	p.Gly449Asp	rs1458190494	missense variant	-	NC_000006.12:g.6182101C>T	TOPMed
F13A1	P00488	p.Gly449Ser	rs1174065844	missense variant	-	NC_000006.12:g.6182102C>T	gnomAD
F13A1	P00488	p.Thr450Ile	rs751594692	missense variant	-	NC_000006.12:g.6182098G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.His451Gln	rs1393018398	missense variant	-	NC_000006.12:g.6182094A>C	TOPMed,gnomAD
F13A1	P00488	p.Val452Glu	rs758588092	missense variant	-	NC_000006.12:g.6182092A>T	ExAC,gnomAD
F13A1	P00488	p.Val452Met	rs373405542	missense variant	-	NC_000006.12:g.6182093C>T	ESP,ExAC,gnomAD
F13A1	P00488	p.Val453Gly	rs750668827	missense variant	-	NC_000006.12:g.6182089A>C	ExAC,gnomAD
F13A1	P00488	p.Glu454Lys	rs573785951	missense variant	-	NC_000006.12:g.6182087C>T	ExAC,gnomAD
F13A1	P00488	p.Asp457Asn	rs1280546712	missense variant	-	NC_000006.12:g.6182078C>T	gnomAD
F13A1	P00488	p.Ala458Thr	rs754375644	missense variant	-	NC_000006.12:g.6182075C>T	ExAC,gnomAD
F13A1	P00488	p.Ala458Val	rs1350563778	missense variant	-	NC_000006.12:g.6182074G>A	TOPMed,gnomAD
F13A1	P00488	p.His460Asn	COSM370901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6182069G>T	NCI-TCGA Cosmic
F13A1	P00488	p.Ile461Thr	rs764648743	missense variant	-	NC_000006.12:g.6182065A>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ile461Ser	rs764648743	missense variant	-	NC_000006.12:g.6182065A>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly462Val	COSM3629114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6182062C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Lys463Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6182058T>G	NCI-TCGA
F13A1	P00488	p.Lys463Ter	COSM6174804	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6182060T>A	NCI-TCGA Cosmic
F13A1	P00488	p.Leu464Val	rs761295168	missense variant	-	NC_000006.12:g.6182057A>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Lys468Arg	rs1013009273	missense variant	-	NC_000006.12:g.6182044T>C	TOPMed,gnomAD
F13A1	P00488	p.Gln469Lys	rs150455213	missense variant	-	NC_000006.12:g.6182042G>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gln469Ter	rs150455213	stop gained	-	NC_000006.12:g.6182042G>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gln469Glu	rs150455213	missense variant	-	NC_000006.12:g.6182042G>C	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gln469Ter	rs150455213	stop gained	-	NC_000006.12:g.6182042G>A	NCI-TCGA
F13A1	P00488	p.Gly474Ser	rs1329930380	missense variant	-	NC_000006.12:g.6182027C>T	TOPMed
F13A1	P00488	p.Met476Ile	rs1399884896	missense variant	-	NC_000006.12:g.6182019C>T	gnomAD
F13A1	P00488	p.Met476Ile	rs1399884896	missense variant	-	NC_000006.12:g.6182019C>G	gnomAD
F13A1	P00488	p.Met476Arg	rs375123237	missense variant	-	NC_000006.12:g.6182020A>C	ESP,ExAC,gnomAD
F13A1	P00488	p.Ile478Thr	rs1171712858	missense variant	-	NC_000006.12:g.6182014A>G	gnomAD
F13A1	P00488	p.Asp480Asn	rs1333125114	missense variant	-	NC_000006.12:g.6182009C>T	TOPMed
F13A1	P00488	p.Asp480Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6182008T>A	NCI-TCGA
F13A1	P00488	p.Asp480Glu	rs772809768	missense variant	-	NC_000006.12:g.6182007A>C	ExAC,gnomAD
F13A1	P00488	p.Gln488Glu	rs764753561	missense variant	-	NC_000006.12:g.6174865G>C	ExAC,gnomAD
F13A1	P00488	p.Glu489Gly	rs146866566	missense variant	-	NC_000006.12:g.6174861T>C	ESP,ExAC,gnomAD
F13A1	P00488	p.Arg492Ser	rs768496684	missense variant	-	NC_000006.12:g.6174851T>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg492AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6174853T>-	NCI-TCGA
F13A1	P00488	p.Arg492Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174852C>T	NCI-TCGA
F13A1	P00488	p.Ala494Val	rs775327691	missense variant	-	NC_000006.12:g.6174846G>A	ExAC,gnomAD
F13A1	P00488	p.Thr497AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6174838_6174839insC	NCI-TCGA
F13A1	P00488	p.Thr497Ile	rs772167756	missense variant	-	NC_000006.12:g.6174837G>A	NCI-TCGA
F13A1	P00488	p.Thr497Ile	rs772167756	missense variant	-	NC_000006.12:g.6174837G>A	ExAC,gnomAD
F13A1	P00488	p.Ala498Val	rs941140530	missense variant	-	NC_000006.12:g.6174834G>A	-
F13A1	P00488	p.Ala498Val	rs941140530	missense variant	-	NC_000006.12:g.6174834G>A	NCI-TCGA
F13A1	P00488	p.Ala498Ser	rs745888361	missense variant	-	NC_000006.12:g.6174835C>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Leu499Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174832G>T	NCI-TCGA
F13A1	P00488	p.Met500Ile	rs757488075	missense variant	-	NC_000006.12:g.6174827C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly502Arg	rs121913068	missense variant	-	NC_000006.12:g.6174823C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala503Thr	rs568468779	missense variant	-	NC_000006.12:g.6174820C>T	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Ala503Val	COSM3922049	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6174819G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Lys505Met	rs753219637	missense variant	-	NC_000006.12:g.6174813T>A	ExAC,gnomAD
F13A1	P00488	p.Lys505Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174814T>C	NCI-TCGA
F13A1	P00488	p.Lys505SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6174813T>-	NCI-TCGA
F13A1	P00488	p.Pro506Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174811G>T	NCI-TCGA
F13A1	P00488	p.Leu507Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174808G>T	NCI-TCGA
F13A1	P00488	p.Asn508Lys	rs755537153	missense variant	-	NC_000006.12:g.6174803G>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asn508Asp	rs1001752945	missense variant	-	NC_000006.12:g.6174805T>C	TOPMed
F13A1	P00488	p.Gly511Ser	rs1178415419	missense variant	-	NC_000006.12:g.6174796C>T	TOPMed
F13A1	P00488	p.Val512Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174792A>G	NCI-TCGA
F13A1	P00488	p.Met513Lys	rs1380447934	missense variant	-	NC_000006.12:g.6174789A>T	TOPMed
F13A1	P00488	p.Met513Leu	rs749832625	missense variant	-	NC_000006.12:g.6174790T>G	ExAC,gnomAD
F13A1	P00488	p.Ser515Pro	rs764813277	missense variant	-	NC_000006.12:g.6174784A>G	ExAC,gnomAD
F13A1	P00488	p.Arg516Ser	rs760510692	missense variant	-	NC_000006.12:g.6174779C>A	ExAC,gnomAD
F13A1	P00488	p.Arg516Lys	rs763844189	missense variant	-	NC_000006.12:g.6174780C>T	ExAC,gnomAD
F13A1	P00488	p.Arg516Gly	rs776332995	missense variant	-	NC_000006.12:g.6174781T>C	ExAC,gnomAD
F13A1	P00488	p.Asn518Ser	rs369134587	missense variant	-	NC_000006.12:g.6174774T>C	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asn518His	rs771866520	missense variant	-	NC_000006.12:g.6174775T>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val519Ile	rs771196991	missense variant	-	NC_000006.12:g.6174772C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val519Ala	rs1224605741	missense variant	-	NC_000006.12:g.6174771A>G	gnomAD
F13A1	P00488	p.Val519Gly	rs1224605741	missense variant	-	NC_000006.12:g.6174771A>C	gnomAD
F13A1	P00488	p.Val519Ala	rs1224605741	missense variant	-	NC_000006.12:g.6174771A>G	NCI-TCGA
F13A1	P00488	p.Asp520Asn	rs140037971	missense variant	-	NC_000006.12:g.6174769C>T	ESP,TOPMed,gnomAD
F13A1	P00488	p.Met521Leu	rs547064561	missense variant	-	NC_000006.12:g.6174766T>G	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Met521Thr	rs1239097473	missense variant	-	NC_000006.12:g.6174765A>G	gnomAD
F13A1	P00488	p.Glu524Lys	rs1264941291	missense variant	-	NC_000006.12:g.6174757C>T	TOPMed,gnomAD
F13A1	P00488	p.Val525Ala	rs770263296	missense variant	-	NC_000006.12:g.6174753A>G	ExAC,gnomAD
F13A1	P00488	p.Leu530Pro	VAR_074288	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
F13A1	P00488	p.Asp533Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174729T>C	NCI-TCGA
F13A1	P00488	p.Asp533Tyr	rs1376318084	missense variant	-	NC_000006.12:g.6174730C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Asp533Tyr	rs1376318084	missense variant	-	NC_000006.12:g.6174730C>A	TOPMed
F13A1	P00488	p.Phe534Ile	rs755377836	missense variant	-	NC_000006.12:g.6174727A>T	ExAC,gnomAD
F13A1	P00488	p.Phe534Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174726A>G	NCI-TCGA
F13A1	P00488	p.Lys535Asn	rs778389185	missense variant	-	NC_000006.12:g.6174722C>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Lys535Arg	rs151032137	missense variant	-	NC_000006.12:g.6174723T>C	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Lys535Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174723T>A	NCI-TCGA
F13A1	P00488	p.Ile538Val	rs1347040527	missense variant	-	NC_000006.12:g.6174715T>C	TOPMed
F13A1	P00488	p.Phe540Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174709A>G	NCI-TCGA
F13A1	P00488	p.Arg541Trp	rs1396045292	missense variant	-	NC_000006.12:g.6174706G>A	TOPMed,gnomAD
F13A1	P00488	p.Arg541Leu	rs367679357	missense variant	-	NC_000006.12:g.6174705C>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg541Trp	rs1396045292	missense variant	-	NC_000006.12:g.6174706G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Arg541Gln	rs367679357	missense variant	-	NC_000006.12:g.6174705C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg541Gln	rs367679357	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6174705C>T	UniProt,dbSNP
F13A1	P00488	p.Arg541Gln	VAR_077622	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6174705C>T	UniProt
F13A1	P00488	p.Asn542Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174701G>T	NCI-TCGA
F13A1	P00488	p.Asn542Ser	rs760408760	missense variant	-	NC_000006.12:g.6174702T>C	ExAC,gnomAD
F13A1	P00488	p.Asn543Thr	rs752370685	missense variant	-	NC_000006.12:g.6174699T>G	ExAC,gnomAD
F13A1	P00488	p.Ser544Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174697T>G	NCI-TCGA
F13A1	P00488	p.Arg547His	rs374508373	missense variant	-	NC_000006.12:g.6174687C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg547Cys	rs767358574	missense variant	-	NC_000006.12:g.6174688G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg547Leu	rs374508373	missense variant	-	NC_000006.12:g.6174687C>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg547His	rs374508373	missense variant	-	NC_000006.12:g.6174687C>T	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Arg547ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6174688G>-	NCI-TCGA
F13A1	P00488	p.Arg547Ser	rs767358574	missense variant	-	NC_000006.12:g.6174688G>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg547Ser	rs767358574	missense variant	-	NC_000006.12:g.6174688G>T	NCI-TCGA
F13A1	P00488	p.Thr551Ile	rs5984	missense variant	-	NC_000006.12:g.6174675G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala552Thr	rs771107452	missense variant	-	NC_000006.12:g.6174673C>T	ExAC,gnomAD
F13A1	P00488	p.Ser555Leu	rs201203914	missense variant	-	NC_000006.12:g.6174663G>A	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Ala556Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174661C>T	NCI-TCGA
F13A1	P00488	p.Ala556Gly	rs773451190	missense variant	-	NC_000006.12:g.6174660G>C	ExAC,gnomAD
F13A1	P00488	p.Thr559Asn	rs748413307	missense variant	-	NC_000006.12:g.6174651G>T	ExAC,gnomAD
F13A1	P00488	p.Thr562Asn	COSM1080875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6174642G>T	NCI-TCGA Cosmic
F13A1	P00488	p.Gly563Arg	rs121913069	missense variant	-	NC_000006.12:g.6174640C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly563Glu	rs747441200	missense variant	-	NC_000006.12:g.6174639C>T	ExAC,gnomAD
F13A1	P00488	p.Gly563Trp	rs121913069	missense variant	-	NC_000006.12:g.6174640C>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val564SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6174637C>-	NCI-TCGA
F13A1	P00488	p.Pro565Leu	rs5982	missense variant	-	NC_000006.12:g.6174633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Pro565Ser	rs766867184	missense variant	-	NC_000006.12:g.6174634G>A	ExAC,gnomAD
F13A1	P00488	p.Pro565Ala	rs766867184	missense variant	-	NC_000006.12:g.6174634G>C	ExAC,gnomAD
F13A1	P00488	p.Lys566Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6174629C>A	NCI-TCGA
F13A1	P00488	p.Thr573Met	rs113599940	missense variant	-	NC_000006.12:g.6174609G>A	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Thr573Met	rs113599940	missense variant	-	NC_000006.12:g.6174609G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Phe574Leu	rs1216251359	missense variant	-	NC_000006.12:g.6174607A>G	gnomAD
F13A1	P00488	p.Asp575His	rs201444282	missense variant	-	NC_000006.12:g.6174604C>G	ExAC,gnomAD
F13A1	P00488	p.Asp575Asn	rs201444282	missense variant	-	NC_000006.12:g.6174604C>T	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Asp575Asn	rs201444282	missense variant	-	NC_000006.12:g.6174604C>T	ExAC,gnomAD
F13A1	P00488	p.Val576Met	rs61734486	missense variant	-	NC_000006.12:g.6174601C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val576Leu	rs61734486	missense variant	-	NC_000006.12:g.6174601C>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Thr577Met	rs143711562	missense variant	-	NC_000006.12:g.6174597G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Leu581Val	rs1376133031	missense variant	-	NC_000006.12:g.6174586A>C	gnomAD
F13A1	P00488	p.Ser582Phe	rs775862233	missense variant	-	NC_000006.12:g.6174582G>A	ExAC,gnomAD
F13A1	P00488	p.Phe583Cys	rs774882469	missense variant	-	NC_000006.12:g.6167618A>C	ExAC
F13A1	P00488	p.Ala587Val	rs1000746313	missense variant	-	NC_000006.12:g.6167606G>A	TOPMed,gnomAD
F13A1	P00488	p.Ala587Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6167606G>T	NCI-TCGA
F13A1	P00488	p.Ala587Thr	rs1456401225	missense variant	-	NC_000006.12:g.6167607C>T	gnomAD
F13A1	P00488	p.Leu589Gln	rs5983	missense variant	-	NC_000006.12:g.6167600A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ile590Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6167596G>C	NCI-TCGA
F13A1	P00488	p.Gly593Ser	rs138754417	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167589C>T	UniProt,dbSNP
F13A1	P00488	p.Gly593Ser	VAR_077623	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167589C>T	UniProt
F13A1	P00488	p.Gly593Ser	rs138754417	missense variant	-	NC_000006.12:g.6167589C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu594Lys	rs529985469	missense variant	-	NC_000006.12:g.6167586C>T	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu594Asp	rs1277387741	missense variant	-	NC_000006.12:g.6167584C>G	TOPMed,gnomAD
F13A1	P00488	p.Met596Ile	rs1331319994	missense variant	-	NC_000006.12:g.6167578C>T	TOPMed,gnomAD
F13A1	P00488	p.Met596Ile	rs1331319994	missense variant	-	NC_000006.12:g.6167578C>A	TOPMed,gnomAD
F13A1	P00488	p.Met596Leu	rs1195989968	missense variant	-	NC_000006.12:g.6167580T>A	TOPMed,gnomAD
F13A1	P00488	p.Gly597Val	rs201173378	missense variant	-	NC_000006.12:g.6167576C>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gly597Cys	rs1387850086	missense variant	-	NC_000006.12:g.6167577C>A	TOPMed,gnomAD
F13A1	P00488	p.Gly597Asp	rs201173378	missense variant	-	NC_000006.12:g.6167576C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu601Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6167565C>T	NCI-TCGA
F13A1	P00488	p.Gln602Lys	rs757172838	missense variant	-	NC_000006.12:g.6167562G>T	ExAC
F13A1	P00488	p.Gln602Lys	rs757172838	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167562G>T	UniProt,dbSNP
F13A1	P00488	p.Gln602Lys	VAR_074289	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167562G>T	UniProt
F13A1	P00488	p.Ala603Thr	rs376690763	missense variant	-	NC_000006.12:g.6167559C>T	ESP,TOPMed
F13A1	P00488	p.Ala603Val	rs148207995	missense variant	-	NC_000006.12:g.6167558G>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala603Gly	COSM743394	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167558G>C	NCI-TCGA Cosmic
F13A1	P00488	p.His606Asn	rs373723380	missense variant	-	NC_000006.12:g.6167550G>T	ESP,ExAC,gnomAD
F13A1	P00488	p.His606Pro	rs775757965	missense variant	-	NC_000006.12:g.6167549T>G	ExAC,gnomAD
F13A1	P00488	p.Val609Ile	rs1355689812	missense variant	-	NC_000006.12:g.6167541C>T	TOPMed
F13A1	P00488	p.Ala611Gly	rs777280256	missense variant	-	NC_000006.12:g.6167534G>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg612Pro	rs369187276	missense variant	-	NC_000006.12:g.6167531C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg612His	rs369187276	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167531C>T	UniProt,dbSNP
F13A1	P00488	p.Arg612His	VAR_077624	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167531C>T	UniProt
F13A1	P00488	p.Arg612His	rs369187276	missense variant	-	NC_000006.12:g.6167531C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg612Cys	rs771433623	missense variant	-	NC_000006.12:g.6167532G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ile613Leu	rs140646752	missense variant	-	NC_000006.12:g.6167529T>G	ESP,gnomAD
F13A1	P00488	p.Ile613Met	rs768343908	missense variant	-	NC_000006.12:g.6167527G>C	ExAC,gnomAD
F13A1	P00488	p.Ile613Val	rs140646752	missense variant	-	NC_000006.12:g.6167529T>C	ESP,gnomAD
F13A1	P00488	p.Asn614Ser	rs1213983804	missense variant	-	NC_000006.12:g.6167525T>C	gnomAD
F13A1	P00488	p.Arg617Ser	rs1216470597	missense variant	-	NC_000006.12:g.6167515C>A	TOPMed
F13A1	P00488	p.Arg617Met	rs746626360	missense variant	-	NC_000006.12:g.6167516C>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp618Gly	COSM6107278	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167513T>C	NCI-TCGA Cosmic
F13A1	P00488	p.Leu620Met	rs779898586	missense variant	-	NC_000006.12:g.6167508G>T	ExAC,gnomAD
F13A1	P00488	p.Ala621Val	rs1299305128	missense variant	-	NC_000006.12:g.6167504G>A	gnomAD
F13A1	P00488	p.Ala621Ser	rs145180358	missense variant	-	NC_000006.12:g.6167505C>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ala621Asp	COSM3875046	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167504G>T	NCI-TCGA Cosmic
F13A1	P00488	p.Lys622Glu	rs141416839	missense variant	-	NC_000006.12:g.6167502T>C	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Lys624Thr	COSM1251652	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167495T>G	NCI-TCGA Cosmic
F13A1	P00488	p.Ser625Cys	rs1333644897	missense variant	-	NC_000006.12:g.6167492G>C	gnomAD
F13A1	P00488	p.Ser625Ala	rs145219717	missense variant	-	NC_000006.12:g.6167493A>C	ESP
F13A1	P00488	p.Val627Met	rs200830173	missense variant	-	NC_000006.12:g.6167487C>T	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Thr629Pro	rs756227463	missense variant	-	NC_000006.12:g.6167481T>G	ExAC
F13A1	P00488	p.Pro631Ser	rs1478982047	missense variant	-	NC_000006.12:g.6167475G>A	TOPMed,gnomAD
F13A1	P00488	p.Pro631Thr	rs1478982047	missense variant	-	NC_000006.12:g.6167475G>T	TOPMed,gnomAD
F13A1	P00488	p.Glu632Gln	rs752897176	missense variant	-	NC_000006.12:g.6167472C>G	ExAC,gnomAD
F13A1	P00488	p.Glu632Asp	rs1428649047	missense variant	-	NC_000006.12:g.6167470C>A	gnomAD
F13A1	P00488	p.Glu632Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6167472C>T	NCI-TCGA
F13A1	P00488	p.Ile635Thr	rs372738301	missense variant	-	NC_000006.12:g.6167462A>G	ESP,ExAC,gnomAD
F13A1	P00488	p.Ile635Asn	COSM6107279	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167462A>T	NCI-TCGA Cosmic
F13A1	P00488	p.Val637Asp	rs1447436602	missense variant	-	NC_000006.12:g.6151948A>T	gnomAD
F13A1	P00488	p.Val637Ile	rs1483793682	missense variant	-	NC_000006.12:g.6151949C>T	TOPMed,gnomAD
F13A1	P00488	p.Val637SerTerVal	NCI-TCGA novel	stop gained	-	NC_000006.12:g.6151946_6151947insGACCTAAGA	NCI-TCGA
F13A1	P00488	p.Arg638His	rs767194567	missense variant	-	NC_000006.12:g.6151945C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg638Cys	rs200803360	missense variant	-	NC_000006.12:g.6151946G>A	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Gly639Asp	rs1464682298	missense variant	-	NC_000006.12:g.6151942C>T	gnomAD
F13A1	P00488	p.Thr640Ala	rs1413856832	missense variant	-	NC_000006.12:g.6151940T>C	gnomAD
F13A1	P00488	p.Gln641Arg	rs759223840	missense variant	-	NC_000006.12:g.6151936T>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gln641Ter	COSM3777795	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6151937G>A	NCI-TCGA Cosmic
F13A1	P00488	p.Val642Ile	rs1367091013	missense variant	-	NC_000006.12:g.6151934C>T	gnomAD
F13A1	P00488	p.Val643Phe	rs1187223613	missense variant	-	NC_000006.12:g.6151931C>A	gnomAD
F13A1	P00488	p.Asp646Tyr	rs773917573	missense variant	-	NC_000006.12:g.6151922C>A	ExAC,gnomAD
F13A1	P00488	p.Thr650Ile	rs17852475	missense variant	-	NC_000006.12:g.6151909G>A	-
F13A1	P00488	p.Thr650Ile	rs17852475	missense variant	-	NC_000006.12:g.6151909G>A	UniProt,dbSNP
F13A1	P00488	p.Thr650Ile	VAR_060545	missense variant	-	NC_000006.12:g.6151909G>A	UniProt
F13A1	P00488	p.Val651Ile	rs5987	missense variant	-	NC_000006.12:g.6151907C>T	1000Genomes,ESP,TOPMed,gnomAD
F13A1	P00488	p.Glu652Val	rs1230247715	missense variant	-	NC_000006.12:g.6151903T>A	gnomAD
F13A1	P00488	p.Glu652Gln	rs5988	missense variant	-	NC_000006.12:g.6151904C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Glu652AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6151902C>-	NCI-TCGA
F13A1	P00488	p.Asn655Ser	rs1457923339	missense variant	-	NC_000006.12:g.6151894T>C	TOPMed
F13A1	P00488	p.Asn655Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6151894T>G	NCI-TCGA
F13A1	P00488	p.Pro656His	rs1291084317	missense variant	-	NC_000006.12:g.6151891G>T	gnomAD
F13A1	P00488	p.Pro656Ser	rs773025163	missense variant	-	NC_000006.12:g.6151892G>A	ExAC,gnomAD
F13A1	P00488	p.Leu657Phe	COSM1496361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6151887T>G	NCI-TCGA Cosmic
F13A1	P00488	p.Glu659Asp	rs1197509877	missense variant	-	NC_000006.12:g.6151881T>G	TOPMed
F13A1	P00488	p.Glu659Ter	COSM1205921	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6151883C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Thr660Asn	rs1283401736	missense variant	-	NC_000006.12:g.6151879G>T	gnomAD
F13A1	P00488	p.Leu661Val	rs769656856	missense variant	-	NC_000006.12:g.6151877G>C	ExAC,gnomAD
F13A1	P00488	p.Leu661Pro	rs1378792617	missense variant	-	NC_000006.12:g.6151876A>G	gnomAD
F13A1	P00488	p.Arg662Ter	rs267606789	stop gained	-	NC_000006.12:g.6151874G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg662Gln	rs781240042	missense variant	-	NC_000006.12:g.6151873C>T	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Arg662Ter	rs267606789	stop gained	-	NC_000006.12:g.6151874G>A	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Arg662Gln	rs781240042	missense variant	-	NC_000006.12:g.6151873C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asn663Asp	rs1011623843	missense variant	-	NC_000006.12:g.6151871T>C	TOPMed
F13A1	P00488	p.His667Arg	rs755050356	missense variant	-	NC_000006.12:g.6151858T>C	ExAC,gnomAD
F13A1	P00488	p.His667Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6151857G>T	NCI-TCGA
F13A1	P00488	p.Leu668Pro	rs1173258177	missense variant	-	NC_000006.12:g.6151855A>G	TOPMed
F13A1	P00488	p.Leu668Val	rs570157317	missense variant	-	NC_000006.12:g.6151856G>C	1000Genomes,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp669Gly	rs375129902	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6151852T>C	UniProt,dbSNP
F13A1	P00488	p.Asp669Gly	VAR_077625	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6151852T>C	UniProt
F13A1	P00488	p.Asp669Gly	rs375129902	missense variant	-	NC_000006.12:g.6151852T>C	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Asp669Val	COSM743395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6151852T>A	NCI-TCGA Cosmic
F13A1	P00488	p.Gly670Asp	rs758286692	missense variant	-	NC_000006.12:g.6151849C>T	gnomAD
F13A1	P00488	p.Gly670Ser	rs1329430042	missense variant	-	NC_000006.12:g.6151850C>T	TOPMed
F13A1	P00488	p.Val673Ile	rs750685276	missense variant	-	NC_000006.12:g.6151841C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg675Lys	rs765709112	missense variant	-	NC_000006.12:g.6151834C>T	ExAC,gnomAD
F13A1	P00488	p.Arg675Ile	rs765709112	missense variant	-	NC_000006.12:g.6151834C>A	ExAC,gnomAD
F13A1	P00488	p.Met677Thr	rs911743789	missense variant	-	NC_000006.12:g.6151828A>G	TOPMed,gnomAD
F13A1	P00488	p.Met677Val	rs371964182	missense variant	-	NC_000006.12:g.6151829T>C	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Met677Ile	rs551878781	missense variant	-	NC_000006.12:g.6151827C>T	1000Genomes,ExAC,gnomAD
F13A1	P00488	p.Lys679Met	rs201302247	missense variant	-	NC_000006.12:g.6151822T>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Phe681Cys	rs1355659348	missense variant	-	NC_000006.12:g.6151816A>C	gnomAD
F13A1	P00488	p.Arg682His	rs121913064	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6151813C>T	UniProt,dbSNP
F13A1	P00488	p.Arg682His	VAR_007474	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6151813C>T	UniProt
F13A1	P00488	p.Arg682His	rs121913064	missense variant	-	NC_000006.12:g.6151813C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg682Cys	rs759017674	missense variant	-	NC_000006.12:g.6151814G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg682Leu	rs121913064	missense variant	-	NC_000006.12:g.6151813C>A	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ile684Phe	COSM3629112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6145768T>A	NCI-TCGA Cosmic
F13A1	P00488	p.Arg685Trp	rs764461653	missense variant	-	NC_000006.12:g.6145765G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg685Leu	rs184352526	missense variant	-	NC_000006.12:g.6145764C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg685Trp	rs764461653	missense variant	-	NC_000006.12:g.6145765G>A	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Arg685Gln	rs184352526	missense variant	-	NC_000006.12:g.6145764C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Pro686His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6145761G>T	NCI-TCGA
F13A1	P00488	p.Pro686Ser	rs1360084850	missense variant	-	NC_000006.12:g.6145762G>A	gnomAD
F13A1	P00488	p.Pro686Leu	rs1318599717	missense variant	-	NC_000006.12:g.6145761G>A	TOPMed
F13A1	P00488	p.Ser688Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6145755G>A	NCI-TCGA
F13A1	P00488	p.Val690Gly	rs1428685680	missense variant	-	NC_000006.12:g.6145749A>C	TOPMed,gnomAD
F13A1	P00488	p.Val690Leu	rs762504395	missense variant	-	NC_000006.12:g.6145750C>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val690Met	rs762504395	missense variant	-	NC_000006.12:g.6145750C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gln691Arg	rs1027622102	missense variant	-	NC_000006.12:g.6145746T>C	TOPMed,gnomAD
F13A1	P00488	p.Gln691Ter	rs1171402693	stop gained	-	NC_000006.12:g.6145747G>A	gnomAD
F13A1	P00488	p.Trp692Arg	rs750112667	missense variant	-	NC_000006.12:g.6145744A>G	ExAC,gnomAD
F13A1	P00488	p.Glu693Gln	rs764990686	missense variant	-	NC_000006.12:g.6145741C>G	ExAC,gnomAD
F13A1	P00488	p.Glu693LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.6145741C>-	NCI-TCGA
F13A1	P00488	p.Glu694Asp	COSM1251653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6145736T>G	NCI-TCGA Cosmic
F13A1	P00488	p.Val695Ala	rs761544689	missense variant	-	NC_000006.12:g.6145734A>G	ExAC,gnomAD
F13A1	P00488	p.Arg697Trp	rs776438603	missense variant	-	NC_000006.12:g.6145729G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg697Leu	rs768408371	missense variant	-	NC_000006.12:g.6145728C>A	ExAC,gnomAD
F13A1	P00488	p.Arg697Gln	rs768408371	missense variant	-	NC_000006.12:g.6145728C>T	ExAC,gnomAD
F13A1	P00488	p.Arg697Leu	rs768408371	missense variant	-	NC_000006.12:g.6145728C>A	NCI-TCGA Cosmic
F13A1	P00488	p.Pro698Leu	rs760672810	missense variant	-	NC_000006.12:g.6145725G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Trp699Gly	rs1315490476	missense variant	-	NC_000006.12:g.6145723A>C	gnomAD
F13A1	P00488	p.Ser701Ala	rs1180962762	missense variant	-	NC_000006.12:g.6145717A>C	gnomAD
F13A1	P00488	p.Ser701Cys	rs1396234969	missense variant	-	NC_000006.12:g.6145716G>C	gnomAD
F13A1	P00488	p.Gly702Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6145714C>A	NCI-TCGA
F13A1	P00488	p.Gly702Arg	COSM3928567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6145714C>T	NCI-TCGA Cosmic
F13A1	P00488	p.Arg704Gln	rs377484555	missense variant	-	NC_000006.12:g.6145707C>T	ESP,ExAC,gnomAD
F13A1	P00488	p.Arg704Trp	rs267606787	missense variant	-	NC_000006.12:g.6145708G>A	ExAC,gnomAD
F13A1	P00488	p.Arg704Trp	rs267606787	missense variant	-	NC_000006.12:g.6145708G>A	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Arg704Gln	rs377484555	missense variant	-	NC_000006.12:g.6145707C>T	NCI-TCGA
F13A1	P00488	p.Lys705Asn	rs746057077	missense variant	-	NC_000006.12:g.6145703C>A	ExAC,gnomAD
F13A1	P00488	p.Ile707Thr	rs779328579	missense variant	-	NC_000006.12:g.6145698A>G	ExAC,gnomAD
F13A1	P00488	p.Ser709Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6145692C>A	NCI-TCGA
F13A1	P00488	p.Ser709Arg	rs1332164056	missense variant	-	NC_000006.12:g.6145691G>C	TOPMed,gnomAD
F13A1	P00488	p.Met710Ile	rs140537838	missense variant	-	NC_000006.12:g.6145688C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Leu715Pro	COSM3629110	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6145674A>G	NCI-TCGA Cosmic
F13A1	P00488	p.Arg716Ser	rs753309468	missense variant	-	NC_000006.12:g.6145670T>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg716Gly	rs778206273	missense variant	-	NC_000006.12:g.6145672T>C	ExAC,gnomAD
F13A1	P00488	p.Arg716Gly	rs778206273	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6145672T>C	UniProt,dbSNP
F13A1	P00488	p.Arg716Gly	VAR_074291	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6145672T>C	UniProt
F13A1	P00488	p.Arg716Lys	rs147189258	missense variant	-	NC_000006.12:g.6145671C>T	ESP,ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val718Ala	rs757948077	missense variant	-	NC_000006.12:g.6145665A>G	ExAC,gnomAD
F13A1	P00488	p.Gly720Ser	rs866727278	missense variant	-	NC_000006.12:g.6145660C>T	TOPMed,gnomAD
F13A1	P00488	p.Glu721Lys	rs533127151	missense variant	-	NC_000006.12:g.6145657C>T	ExAC,gnomAD
F13A1	P00488	p.Val724Ala	rs764006374	missense variant	-	NC_000006.12:g.6145647A>G	ExAC,gnomAD
F13A1	P00488	p.Val724Leu	rs753570651	missense variant	-	NC_000006.12:g.6145648C>G	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Val724Met	rs753570651	missense variant	-	NC_000006.12:g.6145648C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Gln725Lys	rs760524511	missense variant	-	NC_000006.12:g.6145645G>T	ExAC
F13A1	P00488	p.Gln725Arg	rs1417549782	missense variant	-	NC_000006.12:g.6145644T>C	TOPMed
F13A1	P00488	p.Gln727Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.6145639G>A	NCI-TCGA
F13A1	P00488	p.Arg729Gln	rs759640593	missense variant	-	NC_000006.12:g.6145632C>T	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Arg729Ter	rs772023860	stop gained	-	NC_000006.12:g.6145633G>A	ExAC,gnomAD
F13A1	P00488	p.Arg729Gln	rs759640593	missense variant	-	NC_000006.12:g.6145632C>T	NCI-TCGA,NCI-TCGA Cosmic
F13A1	P00488	p.Pro730Ser	rs774606062	missense variant	-	NC_000006.12:g.6145630G>A	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Pro730Ala	rs774606062	missense variant	-	NC_000006.12:g.6145630G>C	ExAC,TOPMed,gnomAD
F13A1	P00488	p.Ser731Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.6145626G>A	NCI-TCGA
F13A1	P00488	p.Met732Ile	rs1458628143	missense variant	-	NC_000006.12:g.6145622C>T	gnomAD
F13A1	P00488	p.Met732Lys	rs771213534	missense variant	-	NC_000006.12:g.6145623A>T	ExAC,gnomAD
EGFR	P00533	p.Pro3Leu	rs749433287	missense variant	-	NC_000007.14:g.55019285C>T	ExAC,gnomAD
EGFR	P00533	p.Pro3Ser	rs773069229	missense variant	-	NC_000007.14:g.55019284C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro3Thr	rs773069229	missense variant	-	NC_000007.14:g.55019284C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser4Tyr	rs771210838	missense variant	-	NC_000007.14:g.55019288C>A	ExAC,gnomAD
EGFR	P00533	p.Ser4Phe	rs771210838	missense variant	-	NC_000007.14:g.55019288C>T	ExAC,gnomAD
EGFR	P00533	p.Gly5Ala	rs759582787	missense variant	-	NC_000007.14:g.55019291G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly5Arg	rs774487133	missense variant	-	NC_000007.14:g.55019290G>C	ExAC,gnomAD
EGFR	P00533	p.Gly5Glu	rs759582787	missense variant	-	NC_000007.14:g.55019291G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr6Ala	rs767651648	missense variant	-	NC_000007.14:g.55019293A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr6Ala	RCV000372969	missense variant	Lung cancer	NC_000007.14:g.55019293A>G	ClinVar
EGFR	P00533	p.Ala7Ser	rs761183109	missense variant	-	NC_000007.14:g.55019296G>T	ExAC,gnomAD
EGFR	P00533	p.Ala7Pro	rs761183109	missense variant	-	NC_000007.14:g.55019296G>C	ExAC,gnomAD
EGFR	P00533	p.Gly8Arg	rs754259847	missense variant	-	NC_000007.14:g.55019299G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly8Arg	rs754259847	missense variant	-	NC_000007.14:g.55019299G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala10Glu	rs1217714114	missense variant	-	NC_000007.14:g.55019306C>A	TOPMed,gnomAD
EGFR	P00533	p.Ala13Val	rs567894670	missense variant	-	NC_000007.14:g.55019315C>T	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala17Val	rs1180577495	missense variant	-	NC_000007.14:g.55019327C>T	TOPMed
EGFR	P00533	p.Leu18Phe	rs754527029	missense variant	-	NC_000007.14:g.55019329C>T	ExAC,gnomAD
EGFR	P00533	p.Cys19Ser	rs780865931	missense variant	-	NC_000007.14:g.55019333G>C	ExAC,gnomAD
EGFR	P00533	p.Pro20Arg	rs1028735720	missense variant	-	NC_000007.14:g.55019336C>G	TOPMed,gnomAD
EGFR	P00533	p.Pro20Gln	rs1028735720	missense variant	-	NC_000007.14:g.55019336C>A	TOPMed,gnomAD
EGFR	P00533	p.Ala21Glu	rs1194702075	missense variant	-	NC_000007.14:g.55019339C>A	TOPMed,gnomAD
EGFR	P00533	p.Ala21Thr	rs373129709	missense variant	-	NC_000007.14:g.55019338G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala21Val	rs1194702075	missense variant	-	NC_000007.14:g.55019339C>T	TOPMed,gnomAD
EGFR	P00533	p.Ala21Ser	rs373129709	missense variant	-	NC_000007.14:g.55019338G>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser22Asn	rs1257423707	missense variant	-	NC_000007.14:g.55019342G>A	TOPMed
EGFR	P00533	p.Arg23Trp	rs987102148	missense variant	-	NC_000007.14:g.55019344C>T	TOPMed,gnomAD
EGFR	P00533	p.Ala24Thr	rs911767401	missense variant	-	NC_000007.14:g.55019347G>A	TOPMed,gnomAD
EGFR	P00533	p.Lys28Glu	rs749088691	missense variant	-	NC_000007.14:g.55019359A>G	ExAC,gnomAD
EGFR	P00533	p.Lys29Thr	rs774551548	missense variant	-	NC_000007.14:g.55019363A>C	ExAC,gnomAD
EGFR	P00533	p.Val30_Arg297del	VAR_066493	inframe_deletion	-	-	UniProt
EGFR	P00533	p.Gln32Arg	rs746023542	missense variant	-	NC_000007.14:g.55142292A>G	ExAC,gnomAD
EGFR	P00533	p.Gly33Ser	rs772311777	missense variant	-	NC_000007.14:g.55142294G>A	ExAC,gnomAD
EGFR	P00533	p.Thr34Arg	rs144158123	missense variant	-	NC_000007.14:g.55142298C>G	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr34Met	rs144158123	missense variant	-	NC_000007.14:g.55142298C>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser35Asn	rs1406387936	missense variant	-	NC_000007.14:g.55142301G>A	gnomAD
EGFR	P00533	p.Leu38Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55142309C>G	NCI-TCGA
EGFR	P00533	p.Thr39Met	rs375919121	missense variant	-	NC_000007.14:g.55142313C>T	ESP,ExAC,gnomAD
EGFR	P00533	p.Gly42Ser	rs1442908038	missense variant	-	NC_000007.14:g.55142321G>A	gnomAD
EGFR	P00533	p.Phe44Ser	rs1001476056	missense variant	-	NC_000007.14:g.55142328T>C	TOPMed,gnomAD
EGFR	P00533	p.Asp46Val	rs1343024399	missense variant	-	NC_000007.14:g.55142334A>T	gnomAD
EGFR	P00533	p.Asp46Glu	rs1052582656	missense variant	-	NC_000007.14:g.55142335T>A	gnomAD
EGFR	P00533	p.His47Tyr	COSM3639716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55142336C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Phe48Ser	rs1263793183	missense variant	-	NC_000007.14:g.55142340T>C	gnomAD
EGFR	P00533	p.Ser50Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55142346G>A	NCI-TCGA
EGFR	P00533	p.Arg53Lys	rs759219499	missense variant	-	NC_000007.14:g.55142355G>A	ExAC,gnomAD
EGFR	P00533	p.Met54TyrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55142356_55142357insT	NCI-TCGA
EGFR	P00533	p.Asn56Ser	rs767259994	missense variant	-	NC_000007.14:g.55142364A>G	ExAC,gnomAD
EGFR	P00533	p.Glu59Lys	rs760228905	missense variant	-	NC_000007.14:g.55142372G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu59Ala	rs763572530	missense variant	-	NC_000007.14:g.55142373A>C	ExAC,gnomAD
EGFR	P00533	p.Leu62Arg	COSM35602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55142382T>G	NCI-TCGA Cosmic
EGFR	P00533	p.Gly63Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55142385G>A	NCI-TCGA
EGFR	P00533	p.Gly63Arg	COSM1451530	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55142384G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Gln71Arg	rs369580836	missense variant	-	NC_000007.14:g.55142409A>G	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gln71Ter	rs1470757416	stop gained	-	NC_000007.14:g.55142408C>T	TOPMed,gnomAD
EGFR	P00533	p.Gln71Pro	rs369580836	missense variant	-	NC_000007.14:g.55142409A>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asn73Lys	rs1269583681	missense variant	-	NC_000007.14:g.55142416T>G	TOPMed
EGFR	P00533	p.Leu76Ile	rs778638117	missense variant	-	NC_000007.14:g.55142423C>A	ExAC,gnomAD
EGFR	P00533	p.Thr81Ala	rs374986786	missense variant	-	NC_000007.14:g.55143305A>G	ESP,ExAC,gnomAD
EGFR	P00533	p.Ile82Val	rs1309796320	missense variant	-	NC_000007.14:g.55143308A>G	NCI-TCGA
EGFR	P00533	p.Ile82Val	rs1309796320	missense variant	-	NC_000007.14:g.55143308A>G	gnomAD
EGFR	P00533	p.Glu84Gln	rs753319070	missense variant	-	NC_000007.14:g.55143314G>C	ExAC,gnomAD
EGFR	P00533	p.Glu84Lys	rs753319070	missense variant	-	NC_000007.14:g.55143314G>A	ExAC,gnomAD
EGFR	P00533	p.Glu84Asp	rs1282801317	missense variant	-	NC_000007.14:g.55143316G>C	gnomAD
EGFR	P00533	p.Glu84Val	COSM3929114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55143315A>T	NCI-TCGA Cosmic
EGFR	P00533	p.Val85Met	COSM3881800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55143317G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Gly87Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55143323G>T	NCI-TCGA
EGFR	P00533	p.Gly87Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55143324G>A	NCI-TCGA
EGFR	P00533	p.Tyr88Cys	rs765137528	missense variant	-	NC_000007.14:g.55143327A>G	ExAC,gnomAD
EGFR	P00533	p.Leu90His	rs142061256	missense variant	-	NC_000007.14:g.55143333T>A	ESP,ExAC,gnomAD
EGFR	P00533	p.Leu90Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55143332C>A	NCI-TCGA
EGFR	P00533	p.Leu90Phe	rs750399097	missense variant	-	NC_000007.14:g.55143332C>T	ExAC,gnomAD
EGFR	P00533	p.Ile91Val	COSM6178068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55143335A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Ala92Val	rs779879611	missense variant	-	NC_000007.14:g.55143339C>T	ExAC,gnomAD
EGFR	P00533	p.Ala92Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55143338G>A	NCI-TCGA
EGFR	P00533	p.Thr95Ile	rs1422504667	missense variant	-	NC_000007.14:g.55143348C>T	TOPMed
EGFR	P00533	p.Val96Met	rs1260357262	missense variant	-	NC_000007.14:g.55143350G>A	gnomAD
EGFR	P00533	p.Glu97Gln	rs755189573	missense variant	-	NC_000007.14:g.55143353G>C	ExAC,gnomAD
EGFR	P00533	p.Glu97Gln	rs755189573	missense variant	-	NC_000007.14:g.55143353G>C	NCI-TCGA
EGFR	P00533	p.Arg98Leu	rs17289589	missense variant	-	NC_000007.14:g.55143357G>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg98Gln	rs17289589	missense variant	-	NC_000007.14:g.55143357G>A	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Arg98Gln	rs17289589	missense variant	-	NC_000007.14:g.55143357G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro100Ser	rs866460345	missense variant	-	NC_000007.14:g.55143362C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Pro100His	rs376963968	missense variant	-	NC_000007.14:g.55143363C>A	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Pro100Ser	rs866460345	missense variant	-	NC_000007.14:g.55143362C>T	-
EGFR	P00533	p.Pro100His	rs376963968	missense variant	-	NC_000007.14:g.55143363C>A	ESP
EGFR	P00533	p.Leu101Phe	COSM3639718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55143367G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Gln105His	rs141271101	missense variant	-	NC_000007.14:g.55143379G>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ile106Val	rs771366736	missense variant	-	NC_000007.14:g.55143380A>G	ExAC,gnomAD
EGFR	P00533	p.Arg108Gly	RCV000440142	missense variant	-	NC_000007.14:g.55143386A>G	ClinVar
EGFR	P00533	p.Arg108Lys	rs1057519828	missense variant	-	NC_000007.14:g.55143387G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Arg108Gly	rs1057519888	missense variant	-	NC_000007.14:g.55143386A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Arg108Gly	RCV000424206	missense variant	Glioblastoma	NC_000007.14:g.55143386A>G	ClinVar
EGFR	P00533	p.Arg108Lys	rs1057519828	missense variant	-	NC_000007.14:g.55143387G>A	-
EGFR	P00533	p.Arg108Gly	RCV000434481	missense variant	Neoplasm of brain	NC_000007.14:g.55143386A>G	ClinVar
EGFR	P00533	p.Arg108Lys	RCV000432019	missense variant	Neoplasm of brain	NC_000007.14:g.55143387G>A	ClinVar
EGFR	P00533	p.Arg108Gly	rs1057519888	missense variant	-	NC_000007.14:g.55143386A>G	-
EGFR	P00533	p.Gly109Ala	rs145113601	missense variant	-	NC_000007.14:g.55143390G>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Met111Ile	rs1488843432	missense variant	-	NC_000007.14:g.55143397G>A	TOPMed
EGFR	P00533	p.Met111Thr	rs746631025	missense variant	-	NC_000007.14:g.55143396T>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Tyr113Phe	rs1385682568	missense variant	-	NC_000007.14:g.55143402A>T	gnomAD
EGFR	P00533	p.Glu114Lys	rs1219568637	missense variant	-	NC_000007.14:g.55143404G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Glu114Lys	rs1219568637	missense variant	-	NC_000007.14:g.55143404G>A	TOPMed
EGFR	P00533	p.Asn115Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55143409T>G	NCI-TCGA
EGFR	P00533	p.Asn115Lys	rs773596817	missense variant	-	NC_000007.14:g.55143409T>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asn115His	rs1332428616	missense variant	-	NC_000007.14:g.55143407A>C	gnomAD
EGFR	P00533	p.Ser116Phe	COSM4893368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55143411C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Ala118Ser	rs1249939049	missense variant	-	NC_000007.14:g.55143416G>T	gnomAD
EGFR	P00533	p.Ala118Gly	rs1247204001	missense variant	-	NC_000007.14:g.55143417C>G	gnomAD
EGFR	P00533	p.Val121Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55143425G>T	NCI-TCGA
EGFR	P00533	p.Ser123Phe	rs1229095978	missense variant	-	NC_000007.14:g.55143432C>T	TOPMed
EGFR	P00533	p.Ser123Phe	rs1229095978	missense variant	-	NC_000007.14:g.55143432C>T	NCI-TCGA
EGFR	P00533	p.Tyr125Cys	rs1295285127	missense variant	-	NC_000007.14:g.55143438A>G	TOPMed
EGFR	P00533	p.Ala127Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55143444C>A	NCI-TCGA
EGFR	P00533	p.Ala127Thr	rs377444977	missense variant	-	NC_000007.14:g.55143443G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala127Val	rs1485906237	missense variant	-	NC_000007.14:g.55143444C>T	gnomAD
EGFR	P00533	p.Lys129Thr	rs762889647	missense variant	-	NC_000007.14:g.55143450A>C	ExAC,gnomAD
EGFR	P00533	p.Gly131Arg	rs1485016142	missense variant	-	NC_000007.14:g.55143455G>A	TOPMed,gnomAD
EGFR	P00533	p.Glu134Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55143465A>G	NCI-TCGA
EGFR	P00533	p.Glu134Lys	rs751337426	missense variant	-	NC_000007.14:g.55143464G>A	ExAC,gnomAD
EGFR	P00533	p.Met137Val	rs754854319	missense variant	-	NC_000007.14:g.55143473A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg138Lys	rs1437762652	missense variant	-	NC_000007.14:g.55143477G>A	gnomAD
EGFR	P00533	p.Leu140Val	COSM1090858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55143482T>G	NCI-TCGA Cosmic
EGFR	P00533	p.Gln141His	rs767608234	missense variant	-	NC_000007.14:g.55143487G>T	ExAC,gnomAD
EGFR	P00533	p.His145Arg	rs780476417	missense variant	-	NC_000007.14:g.55146615A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.His145Asn	rs1198703773	missense variant	-	NC_000007.14:g.55146614C>A	TOPMed
EGFR	P00533	p.Ala147Pro	rs532655845	missense variant	-	NC_000007.14:g.55146620G>C	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala147Thr	rs532655845	missense variant	-	NC_000007.14:g.55146620G>A	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val148Met	COSM1090861	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55146623G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Arg149Trp	rs774146556	missense variant	-	NC_000007.14:g.55146626C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg149Gln	rs759532524	missense variant	-	NC_000007.14:g.55146627G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Phe150Leu	rs1398462122	missense variant	-	NC_000007.14:g.55146629T>C	TOPMed
EGFR	P00533	p.Asn152Ser	rs551591429	missense variant	-	NC_000007.14:g.55146636A>G	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Pro154His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55146642C>A	NCI-TCGA
EGFR	P00533	p.Ala155Ser	rs919891568	missense variant	-	NC_000007.14:g.55146644G>T	TOPMed
EGFR	P00533	p.Asn158Asp	rs937907395	missense variant	-	NC_000007.14:g.55146653A>G	TOPMed
EGFR	P00533	p.Val159Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55146656G>A	NCI-TCGA
EGFR	P00533	p.Gln163Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55146669A>G	NCI-TCGA
EGFR	P00533	p.Arg165Trp	rs587778252	missense variant	-	NC_000007.14:g.55146674C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg165Gln	rs761795138	missense variant	-	NC_000007.14:g.55146675G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg165Trp	RCV000120701	missense variant	-	NC_000007.14:g.55146674C>T	ClinVar
EGFR	P00533	p.Ile167Thr	rs765416003	missense variant	-	NC_000007.14:g.55146681T>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val168Leu	rs530692924	missense variant	-	NC_000007.14:g.55146683G>C	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Ser170Asn	rs758945260	missense variant	-	NC_000007.14:g.55146690G>A	ExAC,gnomAD
EGFR	P00533	p.Ser170Ile	rs758945260	missense variant	-	NC_000007.14:g.55146690G>T	ExAC,gnomAD
EGFR	P00533	p.Asp171Glu	rs17289686	missense variant	-	NC_000007.14:g.55146694C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Met176Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55146709G>C	NCI-TCGA
EGFR	P00533	p.Ser177Trp	rs770290445	missense variant	-	NC_000007.14:g.55146711C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser177Leu	rs770290445	missense variant	-	NC_000007.14:g.55146711C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser177Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55146710T>C	NCI-TCGA
EGFR	P00533	p.Met178Val	rs1219334377	missense variant	-	NC_000007.14:g.55146713A>G	gnomAD
EGFR	P00533	p.Met178Ile	rs745755245	missense variant	-	NC_000007.14:g.55146715G>A	ExAC,gnomAD
EGFR	P00533	p.His183Asp	rs772071414	missense variant	-	NC_000007.14:g.55146728C>G	ExAC,gnomAD
EGFR	P00533	p.His183Asn	rs772071414	missense variant	-	NC_000007.14:g.55146728C>A	ExAC,gnomAD
EGFR	P00533	p.Leu184Val	rs1224862076	missense variant	-	NC_000007.14:g.55146731C>G	TOPMed,gnomAD
EGFR	P00533	p.Leu184Pro	rs921852102	missense variant	-	NC_000007.14:g.55146732T>C	TOPMed
EGFR	P00533	p.Leu184Gln	rs921852102	missense variant	-	NC_000007.14:g.55146732T>A	TOPMed
EGFR	P00533	p.Cys187Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55151294G>A	NCI-TCGA
EGFR	P00533	p.Asp191Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55151305G>A	NCI-TCGA
EGFR	P00533	p.Pro192Thr	rs770074413	missense variant	-	NC_000007.14:g.55151308C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro192Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55151308C>T	NCI-TCGA
EGFR	P00533	p.Pro192Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55151309C>G	NCI-TCGA
EGFR	P00533	p.Asn196Ser	rs766507267	missense variant	-	NC_000007.14:g.55151321A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser198Asn	rs1335854310	missense variant	-	NC_000007.14:g.55151327G>A	gnomAD
EGFR	P00533	p.Ser198Arg	COSM1090865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55151328C>A	NCI-TCGA Cosmic
EGFR	P00533	p.Glu204Lys	rs767829342	missense variant	-	NC_000007.14:g.55151344G>A	ExAC,gnomAD
EGFR	P00533	p.Thr211Ser	rs779156097	missense variant	-	NC_000007.14:g.55152549C>G	ExAC,gnomAD
EGFR	P00533	p.Lys212Gln	rs750423932	missense variant	-	NC_000007.14:g.55152551A>C	ExAC,gnomAD
EGFR	P00533	p.Ala216Gly	rs1372330611	missense variant	-	NC_000007.14:g.55152564C>G	gnomAD
EGFR	P00533	p.Ala216Thr	rs1190573231	missense variant	-	NC_000007.14:g.55152563G>A	gnomAD
EGFR	P00533	p.Gln218His	rs776050604	missense variant	-	NC_000007.14:g.55152571G>T	ExAC,gnomAD
EGFR	P00533	p.Ser220Pro	rs761098433	missense variant	-	NC_000007.14:g.55152575T>C	ExAC,gnomAD
EGFR	P00533	p.Gly221Arg	rs776886714	missense variant	-	NC_000007.14:g.55152578G>A	ExAC,gnomAD
EGFR	P00533	p.Gly221Trp	rs776886714	missense variant	-	NC_000007.14:g.55152578G>T	ExAC,gnomAD
EGFR	P00533	p.Arg222His	rs751295137	missense variant	-	NC_000007.14:g.55152582G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg222Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55152582G>T	NCI-TCGA
EGFR	P00533	p.Arg222Cys	COSM191968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55152581C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Arg224His	rs759106015	missense variant	-	NC_000007.14:g.55152588G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg224His	rs759106015	missense variant	-	NC_000007.14:g.55152588G>A	NCI-TCGA
EGFR	P00533	p.Ser227Phe	rs1046438724	missense variant	-	NC_000007.14:g.55152597C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Ser227Phe	rs1046438724	missense variant	-	NC_000007.14:g.55152597C>T	TOPMed,gnomAD
EGFR	P00533	p.Ser227Pro	rs766952405	missense variant	-	NC_000007.14:g.55152596T>C	ExAC,gnomAD
EGFR	P00533	p.Pro228His	rs752616839	missense variant	-	NC_000007.14:g.55152600C>A	ExAC,gnomAD
EGFR	P00533	p.Pro228Leu	COSM5872872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55152600C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Ser229Arg	rs1357816760	missense variant	-	NC_000007.14:g.55152604T>A	gnomAD
EGFR	P00533	p.Ser229Gly	rs1247276424	missense variant	-	NC_000007.14:g.55152602A>G	gnomAD
EGFR	P00533	p.Ser229Asn	rs1291943679	missense variant	-	NC_000007.14:g.55152603G>A	gnomAD
EGFR	P00533	p.Ser229Cys	COSM3412174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55152602A>T	NCI-TCGA Cosmic
EGFR	P00533	p.Asp230Ala	rs1203062307	missense variant	-	NC_000007.14:g.55152606A>C	gnomAD
EGFR	P00533	p.Cys231Gly	rs756040606	missense variant	-	NC_000007.14:g.55152608T>G	ExAC
EGFR	P00533	p.Cys231Ser	rs777575581	missense variant	-	NC_000007.14:g.55152609G>C	ExAC,gnomAD
EGFR	P00533	p.Asn234Ser	COSM3639727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55152618A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Ala237Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55152627C>A	NCI-TCGA
EGFR	P00533	p.Gly239Ala	rs1447176163	missense variant	-	NC_000007.14:g.55152633G>C	TOPMed,gnomAD
EGFR	P00533	p.Gly239Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55152632G>A	NCI-TCGA
EGFR	P00533	p.Cys240Tyr	COSM3412176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55152636G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Thr241Ile	rs370744986	missense variant	-	NC_000007.14:g.55152639C>T	ESP,TOPMed,gnomAD
EGFR	P00533	p.Arg244Gly	rs554981236	missense variant	-	NC_000007.14:g.55152647C>G	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg244Gln	rs200664836	missense variant	-	NC_000007.14:g.55152648G>A	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg244Trp	rs554981236	missense variant	-	NC_000007.14:g.55152647C>T	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp247Asn	rs780001754	missense variant	-	NC_000007.14:g.55152656G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp247His	rs780001754	missense variant	-	NC_000007.14:g.55152656G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Leu249Pro	rs765893589	missense variant	-	NC_000007.14:g.55152663T>C	ExAC,gnomAD
EGFR	P00533	p.Arg252Gly	rs775252718	missense variant	-	NC_000007.14:g.55154017C>G	ExAC,gnomAD
EGFR	P00533	p.Arg252His	rs760101437	missense variant	-	NC_000007.14:g.55154018G>A	ExAC,gnomAD
EGFR	P00533	p.Arg252His	rs760101437	missense variant	-	NC_000007.14:g.55154018G>A	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Arg252Cys	COSM1559807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55154017C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Arg252Pro	COSM3412178	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55154018G>C	NCI-TCGA Cosmic
EGFR	P00533	p.Lys253Arg	rs374084791	missense variant	-	NC_000007.14:g.55154021A>G	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Phe254Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55154023T>A	NCI-TCGA
EGFR	P00533	p.Arg255Gln	rs372202099	missense variant	-	NC_000007.14:g.55154027G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg255Ter	rs776490661	stop gained	-	NC_000007.14:g.55154026C>T	ExAC,gnomAD
EGFR	P00533	p.Asp256Tyr	COSM3412180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55154029G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Asp256Gly	COSM1451549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55154030A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Glu257Lys	rs138847501	missense variant	-	NC_000007.14:g.55154032G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu257Lys	rs138847501	missense variant	-	NC_000007.14:g.55154032G>A	NCI-TCGA
EGFR	P00533	p.Thr259Met	rs766478921	missense variant	-	NC_000007.14:g.55154039C>T	NCI-TCGA
EGFR	P00533	p.Thr259Met	rs766478921	missense variant	-	NC_000007.14:g.55154039C>T	ExAC,gnomAD
EGFR	P00533	p.Thr259Pro	rs1396651256	missense variant	-	NC_000007.14:g.55154038A>C	gnomAD
EGFR	P00533	p.Lys261Asn	COSM1330578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55154046G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Thr263Pro	rs1057519829	missense variant	-	NC_000007.14:g.55154050A>C	gnomAD
EGFR	P00533	p.Thr263Pro	rs1057519829	missense variant	-	NC_000007.14:g.55154050A>C	NCI-TCGA Cosmic
EGFR	P00533	p.Thr263Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55154051C>T	NCI-TCGA
EGFR	P00533	p.Thr263Pro	RCV000444169	missense variant	Neoplasm of brain	NC_000007.14:g.55154050A>C	ClinVar
EGFR	P00533	p.Thr263Ala	rs1057519829	missense variant	-	NC_000007.14:g.55154050A>G	gnomAD
EGFR	P00533	p.Cys264Tyr	COSM3639729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55154054G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Pro265His	rs748627278	missense variant	-	NC_000007.14:g.55154057C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro266Gln	rs17336639	missense variant	-	NC_000007.14:g.55154060C>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro266Arg	rs17336639	missense variant	-	NC_000007.14:g.55154060C>G	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro266HisPheSerTerUnkUnk	COSM5872876	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.55154055C>-	NCI-TCGA Cosmic
EGFR	P00533	p.Met268Thr	rs1483973439	missense variant	-	NC_000007.14:g.55154066T>C	gnomAD
EGFR	P00533	p.Leu269Phe	rs1220356597	missense variant	-	NC_000007.14:g.55154068C>T	gnomAD
EGFR	P00533	p.Tyr270Cys	COSM3412184	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55154072A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Pro272Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55154078C>T	NCI-TCGA
EGFR	P00533	p.Pro272His	rs1268199326	missense variant	-	NC_000007.14:g.55154078C>A	gnomAD
EGFR	P00533	p.Thr274Met	rs966001143	missense variant	-	NC_000007.14:g.55154084C>T	TOPMed
EGFR	P00533	p.Thr274Ala	rs1412517681	missense variant	-	NC_000007.14:g.55154083A>G	TOPMed
EGFR	P00533	p.Gln276Arg	rs771396903	missense variant	-	NC_000007.14:g.55154090A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gln276Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55154090A>T	NCI-TCGA
EGFR	P00533	p.Met277Thr	rs1215369904	missense variant	-	NC_000007.14:g.55154093T>C	TOPMed
EGFR	P00533	p.Asp278Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55154096A>G	NCI-TCGA
EGFR	P00533	p.Pro281Arg	rs918710688	missense variant	-	NC_000007.14:g.55154105C>G	TOPMed,gnomAD
EGFR	P00533	p.Glu282Lys	rs199796955	missense variant	-	NC_000007.14:g.55154107G>A	NCI-TCGA
EGFR	P00533	p.Glu282Lys	rs199796955	missense variant	-	NC_000007.14:g.55154107G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Tyr285His	rs776146284	missense variant	-	NC_000007.14:g.55154116T>C	ExAC,gnomAD
EGFR	P00533	p.Ala289Asn	RCV000442544	missense variant	Neoplasm of brain	NC_000007.14:g.55154128_55154129delinsAA	ClinVar
EGFR	P00533	p.Ala289Ile	RCV000417429	missense variant	Neoplasm of brain	NC_000007.14:g.55154128_55154129delinsAT	ClinVar
EGFR	P00533	p.Ala289Asn	RCV000437629	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55154128_55154129delinsAA	ClinVar
EGFR	P00533	p.Ala289Val	rs149840192	missense variant	-	NC_000007.14:g.55154129C>T	-
EGFR	P00533	p.Ala289Thr	RCV000422848	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55154128G>A	ClinVar
EGFR	P00533	p.Ala289Val	RCV000423404	missense variant	Glioblastoma	NC_000007.14:g.55154129C>T	ClinVar
EGFR	P00533	p.Ala289Thr	RCV000433672	missense variant	Neoplasm of brain	NC_000007.14:g.55154128G>A	ClinVar
EGFR	P00533	p.Ala289Thr	RCV000443246	missense variant	Glioblastoma	NC_000007.14:g.55154128G>A	ClinVar
EGFR	P00533	p.Ala289ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55154126_55154138GTGCCACCTGCGT>-	NCI-TCGA
EGFR	P00533	p.Ala289Ile	RCV000429429	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55154128_55154129delinsAT	ClinVar
EGFR	P00533	p.Ala289Asp	RCV000443311	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55154129C>A	ClinVar
EGFR	P00533	p.Ala289Val	RCV000423749	missense variant	Neoplasm of brain	NC_000007.14:g.55154129C>T	ClinVar
EGFR	P00533	p.Ala289Thr	rs769696078	missense variant	-	NC_000007.14:g.55154128G>A	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Ala289Asp	rs149840192	missense variant	-	NC_000007.14:g.55154129C>A	NCI-TCGA Cosmic
EGFR	P00533	p.Ala289Val	rs149840192	missense variant	-	NC_000007.14:g.55154129C>T	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Ala289Val	RCV000439402	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55154129C>T	ClinVar
EGFR	P00533	p.Ala289Asp	RCV000434840	missense variant	Glioblastoma	NC_000007.14:g.55154129C>A	ClinVar
EGFR	P00533	p.Ala289Asp	RCV000427425	missense variant	Neoplasm of brain	NC_000007.14:g.55154129C>A	ClinVar
EGFR	P00533	p.Ala289Ile	RCV000435251	missense variant	Glioblastoma	NC_000007.14:g.55154128_55154129delinsAT	ClinVar
EGFR	P00533	p.Ala289Asn	RCV000424975	missense variant	Glioblastoma	NC_000007.14:g.55154128_55154129delinsAA	ClinVar
EGFR	P00533	p.Ala289Thr	rs769696078	missense variant	-	NC_000007.14:g.55154128G>A	ExAC,gnomAD
EGFR	P00533	p.Ala289Asp	rs149840192	missense variant	-	NC_000007.14:g.55154129C>A	-
EGFR	P00533	p.Thr290Ile	rs1020654485	missense variant	-	NC_000007.14:g.55154132C>T	TOPMed,gnomAD
EGFR	P00533	p.Cys291Phe	rs1220574404	missense variant	-	NC_000007.14:g.55154135G>T	TOPMed
EGFR	P00533	p.Val292Ala	rs762649354	missense variant	-	NC_000007.14:g.55154138T>C	ExAC
EGFR	P00533	p.Val292Met	rs150549265	missense variant	-	NC_000007.14:g.55154137G>A	ESP,TOPMed,gnomAD
EGFR	P00533	p.Val292Met	rs150549265	missense variant	-	NC_000007.14:g.55154137G>A	NCI-TCGA
EGFR	P00533	p.Arg297Cys	rs751667358	missense variant	-	NC_000007.14:g.55154152C>T	ExAC,gnomAD
EGFR	P00533	p.Val300Met	COSM6178064	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155838G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Val301Leu	rs779094647	missense variant	-	NC_000007.14:g.55155841G>T	ExAC,gnomAD
EGFR	P00533	p.Asp303His	COSM297803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155847G>C	NCI-TCGA Cosmic
EGFR	P00533	p.Asp303Asn	COSM3923810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155847G>A	NCI-TCGA Cosmic
EGFR	P00533	p.His304Arg	rs1277911361	missense variant	-	NC_000007.14:g.55155851A>G	gnomAD
EGFR	P00533	p.His304Gln	rs182002674	missense variant	-	NC_000007.14:g.55155852C>A	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.His304Tyr	COSM2149971	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155850C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Gly305Cys	rs1278838499	missense variant	-	NC_000007.14:g.55155853G>T	TOPMed
EGFR	P00533	p.Cys307Arg	rs1321610304	missense variant	-	NC_000007.14:g.55155859T>C	gnomAD
EGFR	P00533	p.Val308Ile	rs749132706	missense variant	-	NC_000007.14:g.55155862G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg309Gly	rs1444692842	missense variant	-	NC_000007.14:g.55155865C>G	gnomAD
EGFR	P00533	p.Arg309Gln	COSM274945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155866G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Gly312Trp	COSM3929116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155874G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Gly312Ala	rs770879879	missense variant	-	NC_000007.14:g.55155875G>C	ExAC,gnomAD
EGFR	P00533	p.Ala313Val	rs149321481	missense variant	-	NC_000007.14:g.55155878C>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp314Asn	rs552062864	missense variant	-	NC_000007.14:g.55155880G>A	1000Genomes
EGFR	P00533	p.Asp314Asn	rs552062864	missense variant	-	NC_000007.14:g.55155880G>A	NCI-TCGA
EGFR	P00533	p.Asp314Gly	COSM3833026	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155881A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Ser315Asn	rs745658347	missense variant	-	NC_000007.14:g.55155884G>A	ExAC,gnomAD
EGFR	P00533	p.Tyr316Cys	rs1484032303	missense variant	-	NC_000007.14:g.55155887A>G	gnomAD
EGFR	P00533	p.Glu317Lys	COSM3929118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155889G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Met318Ile	rs775800262	missense variant	-	NC_000007.14:g.55155894G>T	ExAC,gnomAD
EGFR	P00533	p.Glu319Lys	COSM3639733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155895G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Glu319Ter	rs1175454134	stop gained	-	NC_000007.14:g.55155895G>T	gnomAD
EGFR	P00533	p.Asp321Glu	rs764038041	missense variant	-	NC_000007.14:g.55155903C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp321Tyr	COSM3929120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155901G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Gly322Ser	rs776791214	missense variant	-	NC_000007.14:g.55155904G>A	ExAC,gnomAD
EGFR	P00533	p.Val323Ala	rs367680488	missense variant	-	NC_000007.14:g.55155908T>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val323Ile	rs761844164	missense variant	-	NC_000007.14:g.55155907G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val323Ile	rs761844164	missense variant	-	NC_000007.14:g.55155907G>A	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Arg324His	rs758748662	missense variant	-	NC_000007.14:g.55155911G>A	ExAC,gnomAD
EGFR	P00533	p.Arg324His	rs758748662	missense variant	-	NC_000007.14:g.55155911G>A	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Arg324Leu	COSM1736054	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155911G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Arg324Cys	rs1343888047	missense variant	-	NC_000007.14:g.55155910C>T	gnomAD
EGFR	P00533	p.Lys325Gln	rs766740458	missense variant	-	NC_000007.14:g.55155913A>C	ExAC,gnomAD
EGFR	P00533	p.Cys326Phe	rs886037891	missense variant	-	NC_000007.14:g.55155917G>T	-
EGFR	P00533	p.Cys326Phe	RCV000256393	missense variant	Cowden syndrome 1 (CWS1)	NC_000007.14:g.55155917G>T	ClinVar
EGFR	P00533	p.Lys328Gln	rs144460286	missense variant	-	NC_000007.14:g.55155922A>C	ESP,ExAC,gnomAD
EGFR	P00533	p.Cys329Arg	rs777342222	missense variant	-	NC_000007.14:g.55155925T>C	ExAC,gnomAD
EGFR	P00533	p.Cys329Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55155926G>A	NCI-TCGA
EGFR	P00533	p.Glu330Lys	rs139429793	missense variant	-	NC_000007.14:g.55155928G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu330Val	rs778901010	missense variant	-	NC_000007.14:g.55155929A>T	ExAC,gnomAD
EGFR	P00533	p.Glu330Lys	RCV000677876	missense variant	Lung adenocarcinoma	NC_000007.14:g.55155928G>A	ClinVar
EGFR	P00533	p.Glu330Gly	rs778901010	missense variant	-	NC_000007.14:g.55155929A>G	ExAC,gnomAD
EGFR	P00533	p.Cys333ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55155937_55155938TG>-	NCI-TCGA
EGFR	P00533	p.Arg334Cys	COSM2156010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55155940C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Arg334His	rs771929085	missense variant	-	NC_000007.14:g.55155941G>A	ExAC,gnomAD
EGFR	P00533	p.Ile342Thr	rs1381010963	missense variant	-	NC_000007.14:g.55156551T>C	TOPMed
EGFR	P00533	p.Ile342Leu	rs1284204782	missense variant	-	NC_000007.14:g.55156550A>C	TOPMed,gnomAD
EGFR	P00533	p.Gly343Val	rs771398183	missense variant	-	NC_000007.14:g.55156554G>T	ExAC,TOPMed
EGFR	P00533	p.Ser348Leu	rs371234907	missense variant	-	NC_000007.14:g.55156569C>T	ESP,TOPMed
EGFR	P00533	p.Ile351Val	rs767790289	missense variant	-	NC_000007.14:g.55156577A>G	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Ile351Val	rs767790289	missense variant	-	NC_000007.14:g.55156577A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr354Met	rs753466844	missense variant	-	NC_000007.14:g.55156587C>T	ExAC,gnomAD
EGFR	P00533	p.Thr354LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55156586_55156605ACGAATATTAAACACTTCAA>-	NCI-TCGA
EGFR	P00533	p.Lys357Ile	rs1423110562	missense variant	-	NC_000007.14:g.55156596A>T	gnomAD
EGFR	P00533	p.Phe359Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156603C>A	NCI-TCGA
EGFR	P00533	p.Lys360IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55156604_55156605insT	NCI-TCGA
EGFR	P00533	p.Thr363Ile	rs1164954595	missense variant	-	NC_000007.14:g.55156614C>T	-
EGFR	P00533	p.Thr363Ile	rs1164954595	missense variant	-	NC_000007.14:g.55156614C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Ser364Phe	COSM3923812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55156617C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Asp368Val	rs758017949	missense variant	-	NC_000007.14:g.55156629A>T	ExAC,gnomAD
EGFR	P00533	p.Asp368His	rs749927550	missense variant	-	NC_000007.14:g.55156628G>C	ExAC,gnomAD
EGFR	P00533	p.Asp368Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156628G>A	NCI-TCGA
EGFR	P00533	p.Leu369Ile	rs780131926	missense variant	-	NC_000007.14:g.55156631C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ile371Val	rs1405999227	missense variant	-	NC_000007.14:g.55156637A>G	gnomAD
EGFR	P00533	p.Pro373Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156644C>A	NCI-TCGA
EGFR	P00533	p.Pro373Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156643C>T	NCI-TCGA
EGFR	P00533	p.Ala375Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156650C>T	NCI-TCGA
EGFR	P00533	p.Phe376Leu	rs1341708803	missense variant	-	NC_000007.14:g.55156652T>C	gnomAD
EGFR	P00533	p.Arg377Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156656G>A	NCI-TCGA
EGFR	P00533	p.Arg377Ser	COSM6110421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55156657G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Asp379Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156760G>A	NCI-TCGA
EGFR	P00533	p.Ser380Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156764C>T	NCI-TCGA
EGFR	P00533	p.His383Arg	rs1169461493	missense variant	-	NC_000007.14:g.55156773A>G	TOPMed
EGFR	P00533	p.His383Asn	rs755972013	missense variant	-	NC_000007.14:g.55156772C>A	ExAC,gnomAD
EGFR	P00533	p.Thr384Ser	COSM1313184	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55156776C>G	NCI-TCGA Cosmic
EGFR	P00533	p.Leu387Met	COSM6178060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55156784C>A	NCI-TCGA Cosmic
EGFR	P00533	p.Pro389Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156790C>T	NCI-TCGA
EGFR	P00533	p.Gln390Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55156794A>G	NCI-TCGA
EGFR	P00533	p.Gln390Lys	COSM3639735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55156793C>A	NCI-TCGA Cosmic
EGFR	P00533	p.Gln390Pro	rs1197499057	missense variant	-	NC_000007.14:g.55156794A>C	gnomAD
EGFR	P00533	p.Glu391Lys	rs1389500636	missense variant	-	NC_000007.14:g.55156796G>A	TOPMed
EGFR	P00533	p.Asp393His	RCV000120687	missense variant	-	NC_000007.14:g.55156802G>C	ClinVar
EGFR	P00533	p.Asp393His	rs587778246	missense variant	-	NC_000007.14:g.55156802G>C	gnomAD
EGFR	P00533	p.Ile394Met	rs1178642122	missense variant	-	NC_000007.14:g.55156807T>G	gnomAD
EGFR	P00533	p.Val398Ile	rs757265130	missense variant	-	NC_000007.14:g.55156817G>A	ExAC,gnomAD
EGFR	P00533	p.Glu400Lys	COSM1698691	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55156823G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Phe404Ile	rs777165081	missense variant	-	NC_000007.14:g.55157665T>A	ExAC
EGFR	P00533	p.Leu406Gln	rs1230904747	missense variant	-	NC_000007.14:g.55157672T>A	gnomAD
EGFR	P00533	p.Ile407Val	rs1179620001	missense variant	-	NC_000007.14:g.55157674A>G	gnomAD
EGFR	P00533	p.Pro411Arg	COSM4916543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55157687C>G	NCI-TCGA Cosmic
EGFR	P00533	p.Asn413Ser	rs770466526	missense variant	-	NC_000007.14:g.55157693A>G	ExAC,gnomAD
EGFR	P00533	p.Arg414Met	rs1424097500	missense variant	-	NC_000007.14:g.55157696G>T	gnomAD
EGFR	P00533	p.Thr415Lys	rs1274543317	missense variant	-	NC_000007.14:g.55157699C>A	TOPMed
EGFR	P00533	p.Asp416Glu	rs758956103	missense variant	-	NC_000007.14:g.55157703C>G	ExAC,gnomAD
EGFR	P00533	p.Leu417Arg	rs1456537863	missense variant	-	NC_000007.14:g.55157705T>G	gnomAD
EGFR	P00533	p.His418Tyr	rs1390766480	missense variant	-	NC_000007.14:g.55157707C>T	gnomAD
EGFR	P00533	p.Ala419Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55157710G>C	NCI-TCGA
EGFR	P00533	p.Glu421Lys	rs760639592	missense variant	-	NC_000007.14:g.55157716G>A	ExAC,gnomAD
EGFR	P00533	p.Glu424Asp	rs1230287644	missense variant	-	NC_000007.14:g.55157727A>T	gnomAD
EGFR	P00533	p.Ile425Val	rs558565565	missense variant	-	NC_000007.14:g.55157728A>G	TOPMed
EGFR	P00533	p.Gly428Asp	RCV000144851	missense variant	Inflammatory skin and bowel disease, neonatal, 2 (NISBD2)	NC_000007.14:g.55157738G>A	ClinVar
EGFR	P00533	p.Gly428Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55157737G>A	NCI-TCGA
EGFR	P00533	p.Gly428Asp	rs606231253	missense variant	-	NC_000007.14:g.55157738G>A	ExAC,gnomAD
EGFR	P00533	p.Thr430Asn	rs765369188	missense variant	-	NC_000007.14:g.55157744C>A	ExAC,gnomAD
EGFR	P00533	p.Thr430Ile	COSM3881818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55157744C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Gln432His	COSM6178056	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55157751A>T	NCI-TCGA Cosmic
EGFR	P00533	p.His433Arg	rs750713244	missense variant	-	NC_000007.14:g.55157753A>G	ExAC,gnomAD
EGFR	P00533	p.His433Gln	rs1171743336	missense variant	-	NC_000007.14:g.55160139T>A	gnomAD
EGFR	P00533	p.Phe436Ile	rs1345387967	missense variant	-	NC_000007.14:g.55160146T>A	TOPMed
EGFR	P00533	p.Ser437Tyr	COSM1090871	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55160150C>A	NCI-TCGA Cosmic
EGFR	P00533	p.Val441Ile	rs1166858113	missense variant	-	NC_000007.14:g.55160161G>A	gnomAD
EGFR	P00533	p.Ser442Asn	rs765091640	missense variant	-	NC_000007.14:g.55160165G>A	ExAC,gnomAD
EGFR	P00533	p.Asn444Ser	rs1032006770	missense variant	-	NC_000007.14:g.55160171A>G	TOPMed,gnomAD
EGFR	P00533	p.Ile445Val	rs372990493	missense variant	-	NC_000007.14:g.55160173A>G	ESP,TOPMed,gnomAD
EGFR	P00533	p.Thr446Ile	rs1310061365	missense variant	-	NC_000007.14:g.55160177C>T	gnomAD
EGFR	P00533	p.Ser447Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55160180C>T	NCI-TCGA
EGFR	P00533	p.Leu448Phe	rs763266323	missense variant	-	NC_000007.14:g.55160184G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg451His	rs751667594	missense variant	-	NC_000007.14:g.55160192G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg451Leu	rs751667594	missense variant	-	NC_000007.14:g.55160192G>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg451Cys	rs377567759	missense variant	-	NC_000007.14:g.55160191C>T	ESP,TOPMed,gnomAD
EGFR	P00533	p.Ser452Phe	rs1226827460	missense variant	-	NC_000007.14:g.55160195C>T	gnomAD
EGFR	P00533	p.Ile456Thr	rs1177337471	missense variant	-	NC_000007.14:g.55160207T>C	TOPMed
EGFR	P00533	p.Ser457Asn	rs1340811850	missense variant	-	NC_000007.14:g.55160210G>A	gnomAD
EGFR	P00533	p.Asp458Glu	rs146711874	missense variant	-	NC_000007.14:g.55160214T>G	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp460Asn	rs753269876	missense variant	-	NC_000007.14:g.55160218G>A	ExAC,gnomAD
EGFR	P00533	p.Asp460Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55160220T>A	NCI-TCGA
EGFR	P00533	p.Val461Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55160221G>A	NCI-TCGA
EGFR	P00533	p.Ile462Met	rs1197924233	missense variant	-	NC_000007.14:g.55160226A>G	TOPMed,gnomAD
EGFR	P00533	p.Ser464Ala	rs746763556	missense variant	-	NC_000007.14:g.55160230T>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser464GlyPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000007.14:g.55160229_55160230insGGCTGAGGACA	NCI-TCGA
EGFR	P00533	p.Ser464Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55160230T>C	NCI-TCGA
EGFR	P00533	p.Ser464ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55160228_55160229insCAGG	NCI-TCGA
EGFR	P00533	p.Ser464Thr	rs746763556	missense variant	-	NC_000007.14:g.55160230T>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly465Arg	COSM6110417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55160233G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Leu469Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55160245T>G	NCI-TCGA
EGFR	P00533	p.Asn473Asp	rs1389684767	missense variant	-	NC_000007.14:g.55160257A>G	gnomAD
EGFR	P00533	p.Ile475Val	rs1221992080	missense variant	-	NC_000007.14:g.55160263A>G	TOPMed
EGFR	P00533	p.Asn476Ser	rs746521110	missense variant	-	NC_000007.14:g.55160267A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Lys479Asn	rs768208443	missense variant	-	NC_000007.14:g.55160277A>C	ExAC,gnomAD
EGFR	P00533	p.Leu480Met	rs147732025	missense variant	-	NC_000007.14:g.55160278C>A	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Leu480Val	rs147732025	missense variant	-	NC_000007.14:g.55160278C>G	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Phe481Leu	rs587778247	missense variant	-	NC_000007.14:g.55160283T>G	-
EGFR	P00533	p.Phe481Leu	RCV000120688	missense variant	-	NC_000007.14:g.55160283T>G	ClinVar
EGFR	P00533	p.Gly485Ala	rs982033612	missense variant	-	NC_000007.14:g.55160294G>C	TOPMed,gnomAD
EGFR	P00533	p.Gly485Cys	rs769434273	missense variant	-	NC_000007.14:g.55160293G>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly485Ser	rs769434273	missense variant	-	NC_000007.14:g.55160293G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gln486Ter	COSM6178052	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.55160296C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Thr488Ser	rs1271375100	missense variant	-	NC_000007.14:g.55160303C>G	gnomAD
EGFR	P00533	p.Ser492Gly	RCV000429440	missense variant	Neoplasm of the large intestine	NC_000007.14:g.55160314A>G	ClinVar
EGFR	P00533	p.Ser492Arg	rs1057519860	missense variant	-	NC_000007.14:g.55160316C>A	-
EGFR	P00533	p.Ser492Arg	RCV000423834	missense variant	Neoplasm of the large intestine	NC_000007.14:g.55160316C>A	ClinVar
EGFR	P00533	p.Ser492Gly	rs1057519760	missense variant	-	NC_000007.14:g.55160314A>G	-
EGFR	P00533	p.Gly495Asp	rs766676440	missense variant	-	NC_000007.14:g.55160324G>A	ExAC,gnomAD
EGFR	P00533	p.Asn497Lys	rs774773441	missense variant	-	NC_000007.14:g.55160331C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser498Thr	rs927866979	missense variant	-	NC_000007.14:g.55160333G>C	TOPMed
EGFR	P00533	p.Lys500Glu	rs1206537132	missense variant	-	NC_000007.14:g.55160338A>G	gnomAD
EGFR	P00533	p.Gly503Ser	rs760711480	missense variant	-	NC_000007.14:g.55161507G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly503Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55161508G>T	NCI-TCGA
EGFR	P00533	p.Gln504Glu	rs1334180707	missense variant	-	NC_000007.14:g.55161510C>G	gnomAD
EGFR	P00533	p.Gln504His	rs1188823834	missense variant	-	NC_000007.14:g.55161512G>C	TOPMed
EGFR	P00533	p.Cys506Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55161517G>A	NCI-TCGA
EGFR	P00533	p.Ala508Gly	rs1287531915	missense variant	-	NC_000007.14:g.55161523C>G	TOPMed,gnomAD
EGFR	P00533	p.Ala508Thr	rs1407608935	missense variant	-	NC_000007.14:g.55161522G>A	gnomAD
EGFR	P00533	p.Ala508Asp	rs1287531915	missense variant	-	NC_000007.14:g.55161523C>A	TOPMed,gnomAD
EGFR	P00533	p.Leu509Ser	rs1240855741	missense variant	-	NC_000007.14:g.55161526T>C	gnomAD
EGFR	P00533	p.Ser511Tyr	rs371114444	missense variant	-	NC_000007.14:g.55161532C>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro512Ser	rs587778248	missense variant	-	NC_000007.14:g.55161534C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro512Ser	RCV000120689	missense variant	-	NC_000007.14:g.55161534C>T	ClinVar
EGFR	P00533	p.Glu513Ter	rs754646330	stop gained	-	NC_000007.14:g.55161537G>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu513Lys	rs754646330	missense variant	-	NC_000007.14:g.55161537G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu513Ala	rs1339627647	missense variant	-	NC_000007.14:g.55161538A>C	TOPMed
EGFR	P00533	p.Pro518Ser	rs368484180	missense variant	-	NC_000007.14:g.55161552C>T	ESP,ExAC,TOPMed
EGFR	P00533	p.Pro518Leu	rs564398642	missense variant	-	NC_000007.14:g.55161553C>T	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu519Asp	rs116057045	missense variant	-	NC_000007.14:g.55161557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu519Gly	rs749186957	missense variant	-	NC_000007.14:g.55161556A>G	ExAC,gnomAD
EGFR	P00533	p.Arg521Lys	RCV000120690	missense variant	-	NC_000007.14:g.55161562G>A	ClinVar
EGFR	P00533	p.Arg521Thr	rs2227983	missense variant	-	NC_000007.14:g.55161562G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg521Lys	rs2227983	missense variant	-	NC_000007.14:g.55161562G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg521Met	rs2227983	missense variant	-	NC_000007.14:g.55161562G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val524Ile	rs587778249	missense variant	-	NC_000007.14:g.55161570G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val524Leu	rs587778249	missense variant	-	NC_000007.14:g.55161570G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val524Ile	RCV000120691	missense variant	-	NC_000007.14:g.55161570G>A	ClinVar
EGFR	P00533	p.Cys526Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55161577G>C	NCI-TCGA
EGFR	P00533	p.Arg527Trp	rs768627073	missense variant	-	NC_000007.14:g.55161579C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg527Gln	rs150477666	missense variant	-	NC_000007.14:g.55161580G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg527Gly	rs768627073	missense variant	-	NC_000007.14:g.55161579C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg527Gln	RCV000120692	missense variant	-	NC_000007.14:g.55161580G>A	ClinVar
EGFR	P00533	p.Asn528Asp	rs762336338	missense variant	-	NC_000007.14:g.55161582A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg531Gln	rs1330512770	missense variant	-	NC_000007.14:g.55161592G>A	gnomAD
EGFR	P00533	p.Arg531Ter	COSM3881824	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.55161591C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Val536Ala	rs752350337	missense variant	-	NC_000007.14:g.55161607T>C	ExAC,gnomAD
EGFR	P00533	p.Val536Met	rs767193132	missense variant	-	NC_000007.14:g.55161606G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp537Asn	rs1038997598	missense variant	-	NC_000007.14:g.55161609G>A	TOPMed
EGFR	P00533	p.Asp537Glu	rs1275660363	missense variant	-	NC_000007.14:g.55161611C>G	gnomAD
EGFR	P00533	p.Lys538Thr	rs1209490447	missense variant	-	NC_000007.14:g.55161613A>C	TOPMed
EGFR	P00533	p.Asn540Lys	rs1340266257	missense variant	-	NC_000007.14:g.55161620C>A	TOPMed
EGFR	P00533	p.Leu541Ile	COSM1090877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55161621C>A	NCI-TCGA Cosmic
EGFR	P00533	p.Leu541Phe	rs1208487495	missense variant	-	NC_000007.14:g.55161621C>T	gnomAD
EGFR	P00533	p.Gly544Ser	rs755584255	missense variant	-	NC_000007.14:g.55161630G>A	ExAC,gnomAD
EGFR	P00533	p.Glu545Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55163734G>C	NCI-TCGA
EGFR	P00533	p.Glu545Lys	rs778985185	missense variant	-	NC_000007.14:g.55163734G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro546Ser	RCV000443890	missense variant	Head and Neck Neoplasms	NC_000007.14:g.55163737C>T	ClinVar
EGFR	P00533	p.Pro546Ser	rs1057519830	missense variant	-	NC_000007.14:g.55163737C>T	-
EGFR	P00533	p.Pro546Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55163738C>A	NCI-TCGA
EGFR	P00533	p.Arg547Gly	rs1427028322	missense variant	-	NC_000007.14:g.55163740A>G	TOPMed
EGFR	P00533	p.Phe549Ser	rs1419611893	missense variant	-	NC_000007.14:g.55163747T>C	gnomAD
EGFR	P00533	p.Val550Leu	COSM4844514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55163749G>C	NCI-TCGA Cosmic
EGFR	P00533	p.Glu551Val	rs940873450	missense variant	-	NC_000007.14:g.55163753A>T	TOPMed
EGFR	P00533	p.Asn552Ser	rs1162236403	missense variant	-	NC_000007.14:g.55163756A>G	gnomAD
EGFR	P00533	p.Glu554Gly	rs779741928	missense variant	-	NC_000007.14:g.55163762A>G	ExAC,gnomAD
EGFR	P00533	p.Ile556Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55163767A>G	NCI-TCGA
EGFR	P00533	p.Ile556Met	rs747203424	missense variant	-	NC_000007.14:g.55163769A>G	ExAC,gnomAD
EGFR	P00533	p.Gln557Ter	rs1488695603	stop gained	-	NC_000007.14:g.55163770C>T	TOPMed
EGFR	P00533	p.Pro560Ser	rs748219780	missense variant	-	NC_000007.14:g.55163779C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro560Thr	rs748219780	missense variant	-	NC_000007.14:g.55163779C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu561Gln	rs769918274	missense variant	-	NC_000007.14:g.55163782G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro564Ser	rs773651001	missense variant	-	NC_000007.14:g.55163791C>T	ExAC,gnomAD
EGFR	P00533	p.Pro564Thr	rs773651001	missense variant	-	NC_000007.14:g.55163791C>A	ExAC,gnomAD
EGFR	P00533	p.Gln565Arg	rs1258211270	missense variant	-	NC_000007.14:g.55163795A>G	TOPMed
EGFR	P00533	p.Met567Val	rs771278492	missense variant	-	NC_000007.14:g.55163800A>G	ExAC,gnomAD
EGFR	P00533	p.Asn568Lys	rs1228970909	missense variant	-	NC_000007.14:g.55163805C>A	TOPMed
EGFR	P00533	p.Thr570Ser	rs774558548	missense variant	-	NC_000007.14:g.55163810C>G	ExAC,gnomAD
EGFR	P00533	p.Cys571Ser	COSM3412190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55163813G>C	NCI-TCGA Cosmic
EGFR	P00533	p.Thr572Arg	rs759987693	missense variant	-	NC_000007.14:g.55163816C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly573Arg	rs1294381114	missense variant	-	NC_000007.14:g.55163818G>A	TOPMed
EGFR	P00533	p.Gly573Ter	COSM1673192	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.55163818G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Arg574Trp	rs760471492	missense variant	-	NC_000007.14:g.55163821C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg574Gln	rs370810719	missense variant	-	NC_000007.14:g.55163822G>A	ESP,ExAC,gnomAD
EGFR	P00533	p.Arg574Trp	rs760471492	missense variant	-	NC_000007.14:g.55163821C>T	NCI-TCGA
EGFR	P00533	p.Gly575Glu	rs1249099747	missense variant	-	NC_000007.14:g.55165281G>A	TOPMed,gnomAD
EGFR	P00533	p.Asn578Ser	rs556794990	missense variant	-	NC_000007.14:g.55165290A>G	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Ile580Thr	rs761585117	missense variant	-	NC_000007.14:g.55165296T>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gln581Pro	rs1376117521	missense variant	-	NC_000007.14:g.55165299A>C	gnomAD
EGFR	P00533	p.Gln581Lys	rs764787649	missense variant	-	NC_000007.14:g.55165298C>A	ExAC,gnomAD
EGFR	P00533	p.Gln581Ter	COSM6005744	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.55165298C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Cys582Arg	rs1306429085	missense variant	-	NC_000007.14:g.55165301T>C	gnomAD
EGFR	P00533	p.Ala583Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55165304G>T	NCI-TCGA
EGFR	P00533	p.Ala583Val	rs1447966312	missense variant	-	NC_000007.14:g.55165305C>T	TOPMed
EGFR	P00533	p.His584Gln	rs956386356	missense variant	-	NC_000007.14:g.55165309C>G	TOPMed
EGFR	P00533	p.Ile586Asn	rs542237406	missense variant	-	NC_000007.14:g.55165314T>A	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Ile586Val	rs953188147	missense variant	-	NC_000007.14:g.55165313A>G	TOPMed
EGFR	P00533	p.Ile586Thr	rs542237406	missense variant	-	NC_000007.14:g.55165314T>C	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Ile586Met	rs1281578598	missense variant	-	NC_000007.14:g.55165315T>G	gnomAD
EGFR	P00533	p.Gly588Ser	rs989939484	missense variant	-	NC_000007.14:g.55165319G>A	NCI-TCGA
EGFR	P00533	p.Gly588Ser	rs989939484	missense variant	-	NC_000007.14:g.55165319G>A	TOPMed,gnomAD
EGFR	P00533	p.Pro589Ser	rs1235180640	missense variant	-	NC_000007.14:g.55165322C>T	TOPMed
EGFR	P00533	p.Pro589His	rs751570775	missense variant	-	NC_000007.14:g.55165323C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro589Leu	rs751570775	missense variant	-	NC_000007.14:g.55165323C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro589Leu	rs751570775	missense variant	-	NC_000007.14:g.55165323C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Cys591Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.55165330C>A	NCI-TCGA
EGFR	P00533	p.Val592Ile	rs144943614	missense variant	-	NC_000007.14:g.55165331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Lys593Asn	rs756307243	missense variant	-	NC_000007.14:g.55165336G>C	ExAC,gnomAD
EGFR	P00533	p.Thr594Asn	rs778011429	missense variant	-	NC_000007.14:g.55165338C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr594Ile	rs778011429	missense variant	-	NC_000007.14:g.55165338C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr594Ile	rs778011429	missense variant	-	NC_000007.14:g.55165338C>T	NCI-TCGA
EGFR	P00533	p.Pro596Arg	COSM2151966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55165344C>G	NCI-TCGA Cosmic
EGFR	P00533	p.Pro596Ser	COSM3412194	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55165343C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Pro596Leu	rs1477025000	missense variant	-	NC_000007.14:g.55165344C>T	TOPMed,gnomAD
EGFR	P00533	p.Ala597Ser	rs757419349	missense variant	-	NC_000007.14:g.55165346G>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly598Ala	RCV000423114	missense variant	Neoplasm of brain	NC_000007.14:g.55165350G>C	ClinVar
EGFR	P00533	p.Gly598Ala	RCV000429899	missense variant	-	NC_000007.14:g.55165350G>C	ClinVar
EGFR	P00533	p.Gly598Ala	RCV000440786	missense variant	Glioblastoma	NC_000007.14:g.55165350G>C	ClinVar
EGFR	P00533	p.Gly598Ala	rs139236063	missense variant	-	NC_000007.14:g.55165350G>C	ExAC,gnomAD
EGFR	P00533	p.Gly598Val	rs139236063	missense variant	-	NC_000007.14:g.55165350G>T	ExAC,gnomAD
EGFR	P00533	p.Gly598Val	RCV000434448	missense variant	Neoplasm of brain	NC_000007.14:g.55165350G>T	ClinVar
EGFR	P00533	p.Gly598Val	RCV000436167	missense variant	Glioblastoma	NC_000007.14:g.55165350G>T	ClinVar
EGFR	P00533	p.Gly598Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55165350G>A	NCI-TCGA
EGFR	P00533	p.Gly598Val	RCV000418494	missense variant	-	NC_000007.14:g.55165350G>T	ClinVar
EGFR	P00533	p.Gly598Ala	rs139236063	missense variant	-	NC_000007.14:g.55165350G>C	NCI-TCGA Cosmic
EGFR	P00533	p.Gly598Val	rs139236063	missense variant	-	NC_000007.14:g.55165350G>T	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Val599Asp	rs1206543227	missense variant	-	NC_000007.14:g.55165353T>A	gnomAD
EGFR	P00533	p.Met600Val	rs746395542	missense variant	-	NC_000007.14:g.55165355A>G	ExAC,gnomAD
EGFR	P00533	p.Met600Leu	rs746395542	missense variant	-	NC_000007.14:g.55165355A>T	ExAC,gnomAD
EGFR	P00533	p.Met600Thr	rs149375515	missense variant	-	NC_000007.14:g.55165356T>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly601Glu	rs201498575	missense variant	-	NC_000007.14:g.55165359G>A	1000Genomes,TOPMed
EGFR	P00533	p.Asn603Lys	rs769537072	missense variant	-	NC_000007.14:g.55165366C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asn604Ser	rs913231421	missense variant	-	NC_000007.14:g.55165368A>G	TOPMed
EGFR	P00533	p.Asn604Asp	COSM1698693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55165367A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Thr605Ala	rs1436144358	missense variant	-	NC_000007.14:g.55165370A>G	gnomAD
EGFR	P00533	p.Leu606Val	rs143152775	missense variant	-	NC_000007.14:g.55165373C>G	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Trp608Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55165381G>C	NCI-TCGA
EGFR	P00533	p.Ala611Thr	rs201061916	missense variant	-	NC_000007.14:g.55165388G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp612Asn	rs1214761095	missense variant	-	NC_000007.14:g.55165391G>A	gnomAD
EGFR	P00533	p.Ala613Thr	rs764290273	missense variant	-	NC_000007.14:g.55165394G>A	ExAC,gnomAD
EGFR	P00533	p.Ala613Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55165395C>T	NCI-TCGA
EGFR	P00533	p.Gly614Arg	rs779076899	missense variant	-	NC_000007.14:g.55165397G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly614Asp	rs750850720	missense variant	-	NC_000007.14:g.55165398G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly614Ser	rs779076899	missense variant	-	NC_000007.14:g.55165397G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val616Ala	rs756534868	missense variant	-	NC_000007.14:g.55165404T>C	ExAC
EGFR	P00533	p.Cys620Tyr	rs150899403	missense variant	-	NC_000007.14:g.55165416G>A	-
EGFR	P00533	p.Cys620Trp	COSM29341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55165417C>G	NCI-TCGA Cosmic
EGFR	P00533	p.Cys620Tyr	rs150899403	missense variant	-	NC_000007.14:g.55165416G>A	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Pro622Ser	COSM3639743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55165421C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Asn623Tyr	rs747376358	missense variant	-	NC_000007.14:g.55165424A>T	ExAC,gnomAD
EGFR	P00533	p.Cys624Phe	rs28384376	missense variant	-	NC_000007.14:g.55165428G>T	-
EGFR	P00533	p.Cys624Phe	rs28384376	missense variant	-	NC_000007.14:g.55165428G>T	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Thr625Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55165430A>G	NCI-TCGA
EGFR	P00533	p.Gly627Arg	rs753315940	missense variant	-	NC_000007.14:g.55165436G>A	ExAC,gnomAD
EGFR	P00533	p.Cys628Phe	COSM2157152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55171177G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Cys628Tyr	COSM3412200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55171177G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Pro631Ser	rs552265738	missense variant	-	NC_000007.14:g.55171185C>T	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Leu633Phe	rs1157210752	missense variant	-	NC_000007.14:g.55171191C>T	TOPMed
EGFR	P00533	p.Glu634Lys	rs765068810	missense variant	-	NC_000007.14:g.55171194G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly635Ser	rs957617087	missense variant	-	NC_000007.14:g.55171197G>A	TOPMed,gnomAD
EGFR	P00533	p.Cys636Tyr	COSM39163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55171201G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Thr638Met	rs571064657	missense variant	-	NC_000007.14:g.55171207C>T	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Thr638Ala	rs762592162	missense variant	-	NC_000007.14:g.55171206A>G	ExAC,gnomAD
EGFR	P00533	p.Asn639Ser	rs952307505	missense variant	-	NC_000007.14:g.55171210A>G	TOPMed,gnomAD
EGFR	P00533	p.Gly640Trp	rs200989322	missense variant	-	NC_000007.14:g.55171212G>T	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Pro641Ser	rs1467090960	missense variant	-	NC_000007.14:g.55172984C>T	gnomAD
EGFR	P00533	p.Pro644Arg	rs770443325	missense variant	-	NC_000007.14:g.55172994C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro644Leu	RCV000259941	missense variant	Lung cancer	NC_000007.14:g.55172994C>T	ClinVar
EGFR	P00533	p.Pro644Leu	rs770443325	missense variant	-	NC_000007.14:g.55172994C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser645Cys	rs772046081	missense variant	-	NC_000007.14:g.55172997C>G	ExAC,gnomAD
EGFR	P00533	p.Ile646Leu	rs140516819	missense variant	-	NC_000007.14:g.55172999A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ile646Val	rs140516819	missense variant	-	NC_000007.14:g.55172999A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ile646Ser	rs1300062728	missense variant	-	NC_000007.14:g.55173000T>G	TOPMed
EGFR	P00533	p.Ala647Thr	rs764359156	missense variant	-	NC_000007.14:g.55173002G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr648Ile	rs776728879	missense variant	-	NC_000007.14:g.55173006C>T	ExAC,gnomAD
EGFR	P00533	p.Thr648Ser	rs776728879	missense variant	-	NC_000007.14:g.55173006C>G	ExAC,gnomAD
EGFR	P00533	p.Met650Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55173013G>A	NCI-TCGA
EGFR	P00533	p.Val651Gly	rs758954817	missense variant	-	NC_000007.14:g.55173015T>G	ExAC,gnomAD
EGFR	P00533	p.Val651Met	RCV000709009	missense variant	Hereditary cancer	NC_000007.14:g.55173014G>A	ClinVar
EGFR	P00533	p.Ala653Ser	rs1467640610	missense variant	-	NC_000007.14:g.55173020G>T	gnomAD
EGFR	P00533	p.Leu655Val	rs767037049	missense variant	-	NC_000007.14:g.55173026C>G	ExAC,gnomAD
EGFR	P00533	p.Leu655Phe	rs767037049	missense variant	-	NC_000007.14:g.55173026C>T	ExAC,gnomAD
EGFR	P00533	p.Val659Ala	rs755356995	missense variant	-	NC_000007.14:g.55173039T>C	ExAC,TOPMed
EGFR	P00533	p.Val659Leu	rs201580890	missense variant	-	NC_000007.14:g.55173038G>C	1000Genomes
EGFR	P00533	p.Val660Met	rs1426364365	missense variant	-	NC_000007.14:g.55173041G>A	TOPMed,gnomAD
EGFR	P00533	p.Gly663Arg	rs1424043738	missense variant	-	NC_000007.14:g.55173050G>A	gnomAD
EGFR	P00533	p.Ile664Thr	rs1393556056	missense variant	-	NC_000007.14:g.55173054T>C	gnomAD
EGFR	P00533	p.Ile664Phe	rs756705853	missense variant	-	NC_000007.14:g.55173053A>T	ExAC,gnomAD
EGFR	P00533	p.Gly665Ser	rs745422316	missense variant	-	NC_000007.14:g.55173056G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly665Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55173057G>A	NCI-TCGA
EGFR	P00533	p.Leu666Phe	rs771988878	missense variant	-	NC_000007.14:g.55173059C>T	ExAC,gnomAD
EGFR	P00533	p.Leu666Val	rs771988878	missense variant	-	NC_000007.14:g.55173059C>G	ExAC,gnomAD
EGFR	P00533	p.Met668Leu	rs746757722	missense variant	-	NC_000007.14:g.55173065A>C	ExAC,gnomAD
EGFR	P00533	p.Met668Val	rs746757722	missense variant	-	NC_000007.14:g.55173065A>G	ExAC,gnomAD
EGFR	P00533	p.Arg669Gln	rs768336804	missense variant	-	NC_000007.14:g.55173069G>A	ExAC,gnomAD
EGFR	P00533	p.Arg669Ter	rs1231769201	stop gained	-	NC_000007.14:g.55173068C>T	gnomAD
EGFR	P00533	p.Arg670Ser	rs776875545	missense variant	-	NC_000007.14:g.55173073G>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg671His	rs1266662784	missense variant	-	NC_000007.14:g.55173075G>A	gnomAD
EGFR	P00533	p.Arg671Cys	rs770193776	missense variant	-	NC_000007.14:g.55173074C>T	ExAC,gnomAD
EGFR	P00533	p.Ile673Val	rs1199980775	missense variant	-	NC_000007.14:g.55173080A>G	TOPMed
EGFR	P00533	p.Val674Phe	rs17337079	missense variant	-	NC_000007.14:g.55173083G>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val674Ile	rs17337079	missense variant	-	NC_000007.14:g.55173083G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg675Gln	RCV000709010	missense variant	Hereditary cancer	NC_000007.14:g.55173087G>A	ClinVar
EGFR	P00533	p.Arg675Trp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55173086C>T	NCI-TCGA
EGFR	P00533	p.Arg675Gln	rs150423237	missense variant	-	NC_000007.14:g.55173087G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg677His	rs756870976	missense variant	-	NC_000007.14:g.55173093G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg677Cys	rs1417155613	missense variant	-	NC_000007.14:g.55173092C>T	TOPMed,gnomAD
EGFR	P00533	p.Thr678Met	rs138193597	missense variant	-	NC_000007.14:g.55173096C>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr678Ala	rs1167057229	missense variant	-	NC_000007.14:g.55173095A>G	gnomAD
EGFR	P00533	p.Arg680Gln	rs373336251	missense variant	-	NC_000007.14:g.55173102G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg680Trp	rs369399038	missense variant	-	NC_000007.14:g.55173101C>T	ESP,TOPMed,gnomAD
EGFR	P00533	p.Arg681Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55173105G>T	NCI-TCGA
EGFR	P00533	p.Leu682Val	rs1338409357	missense variant	-	NC_000007.14:g.55173107C>G	TOPMed,gnomAD
EGFR	P00533	p.Leu682Met	rs1338409357	missense variant	-	NC_000007.14:g.55173107C>A	TOPMed,gnomAD
EGFR	P00533	p.Leu683Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55173110C>A	NCI-TCGA
EGFR	P00533	p.Gln684Arg	rs1427460008	missense variant	-	NC_000007.14:g.55173114A>G	TOPMed
EGFR	P00533	p.Gln684His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55173115G>T	NCI-TCGA
EGFR	P00533	p.Arg686Lys	rs1305428034	missense variant	-	NC_000007.14:g.55173120G>A	gnomAD
EGFR	P00533	p.Glu687Lys	rs1314649810	missense variant	-	NC_000007.14:g.55173122G>A	gnomAD
EGFR	P00533	p.Leu688Phe	rs749554270	missense variant	-	NC_000007.14:g.55173921C>T	ExAC,gnomAD
EGFR	P00533	p.Val689Leu	rs397517083	missense variant	-	NC_000007.14:g.55173924G>C	-
EGFR	P00533	p.Val689Leu	RCV000038372	missense variant	-	NC_000007.14:g.55173924G>C	ClinVar
EGFR	P00533	p.Glu690Lys	rs1057519794	missense variant	-	NC_000007.14:g.55173927G>A	-
EGFR	P00533	p.Glu690Lys	RCV000438760	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000007.14:g.55173927G>A	ClinVar
EGFR	P00533	p.Pro691Thr	rs1168763004	missense variant	-	NC_000007.14:g.55173930C>A	gnomAD
EGFR	P00533	p.Pro694Ser	COSM13179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55173939C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Glu697Gln	rs936074781	missense variant	-	NC_000007.14:g.55173948G>C	TOPMed
EGFR	P00533	p.Pro699Leu	COSM249886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55173955C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Asn700Lys	rs1331500903	missense variant	-	NC_000007.14:g.55173959C>A	gnomAD
EGFR	P00533	p.Gln701Lys	rs774261340	missense variant	-	NC_000007.14:g.55173960C>A	ExAC,gnomAD
EGFR	P00533	p.Leu703Phe	rs1273890779	missense variant	-	NC_000007.14:g.55173966C>T	gnomAD
EGFR	P00533	p.Ile706Met	rs1220800698	missense variant	-	NC_000007.14:g.55173977C>G	gnomAD
EGFR	P00533	p.Ile706Thr	RCV000038373	missense variant	-	NC_000007.14:g.55173976T>C	ClinVar
EGFR	P00533	p.Ile706Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55173975A>C	NCI-TCGA
EGFR	P00533	p.Ile706Thr	rs397517084	missense variant	-	NC_000007.14:g.55173976T>C	-
EGFR	P00533	p.Glu709Lys	RCV000154230	missense variant	-	NC_000007.14:g.55173984G>A	ClinVar
EGFR	P00533	p.Glu709Ala	rs397517085	missense variant	-	NC_000007.14:g.55173985A>C	UniProt,dbSNP
EGFR	P00533	p.Glu709Ala	VAR_026084	missense variant	-	NC_000007.14:g.55173985A>C	UniProt
EGFR	P00533	p.Glu709Lys	rs727504256	missense variant	-	NC_000007.14:g.55173984G>A	ExAC,gnomAD
EGFR	P00533	p.Glu709Val	rs397517085	missense variant	-	NC_000007.14:g.55173985A>T	-
EGFR	P00533	p.Glu709Gly	rs397517085	missense variant	-	NC_000007.14:g.55173985A>G	-
EGFR	P00533	p.Glu709Gly	rs397517085	missense variant	-	NC_000007.14:g.55173985A>G	UniProt,dbSNP
EGFR	P00533	p.Glu709Gly	VAR_069498	missense variant	-	NC_000007.14:g.55173985A>G	UniProt
EGFR	P00533	p.Glu709Ala	RCV000206908	missense variant	Lung cancer	NC_000007.14:g.55173985A>C	ClinVar
EGFR	P00533	p.Glu709Ala	RCV000038374	missense variant	-	NC_000007.14:g.55173985A>C	ClinVar
EGFR	P00533	p.Glu709Gly	RCV000150615	missense variant	-	NC_000007.14:g.55173985A>G	ClinVar
EGFR	P00533	p.Glu709Val	RCV000154197	missense variant	-	NC_000007.14:g.55173985A>T	ClinVar
EGFR	P00533	p.Glu709Asp	rs397517086	inframe deletion	-	NC_000007.14:g.55173986_55173988AAC>-	NCI-TCGA,NCI-TCGA Cosmic
EGFR	P00533	p.Thr710Ala	rs1317269653	missense variant	-	NC_000007.14:g.55173987A>G	gnomAD
EGFR	P00533	p.Glu711Lys	COSM53287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55173990G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Phe712Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55173995C>G	NCI-TCGA
EGFR	P00533	p.Lys713Thr	RCV000268060	missense variant	Lung cancer	NC_000007.14:g.55173997A>C	ClinVar
EGFR	P00533	p.Lys713Arg	rs373578289	missense variant	-	NC_000007.14:g.55173997A>G	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Lys713Thr	rs373578289	missense variant	-	NC_000007.14:g.55173997A>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Lys716Glu	rs1300698331	missense variant	-	NC_000007.14:g.55174005A>G	TOPMed
EGFR	P00533	p.Lys716Arg	COSM116797	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55174006A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Gly719Asp	RCV000418583	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174015G>A	ClinVar
EGFR	P00533	p.Gly719Arg	RCV000114405	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55174014G>C	ClinVar
EGFR	P00533	p.Gly719Ala	RCV000038381	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174015G>C	ClinVar
EGFR	P00533	p.Gly719Asp	RCV000420993	missense variant	Squamous cell lung carcinoma	NC_000007.14:g.55174015G>A	ClinVar
EGFR	P00533	p.Gly719Ala	rs121913428	missense variant	-	NC_000007.14:g.55174015G>C	UniProt,dbSNP
EGFR	P00533	p.Gly719Ala	VAR_026086	missense variant	-	NC_000007.14:g.55174015G>C	UniProt
EGFR	P00533	p.Gly719Arg	rs28929495	missense variant	-	NC_000007.14:g.55174014G>C	-
EGFR	P00533	p.Gly719Cys	rs28929495	missense variant	-	NC_000007.14:g.55174014G>T	UniProt,dbSNP
EGFR	P00533	p.Gly719Cys	VAR_026087	missense variant	-	NC_000007.14:g.55174014G>T	UniProt
EGFR	P00533	p.Gly719Cys	rs28929495	missense variant	-	NC_000007.14:g.55174014G>T	-
EGFR	P00533	p.Gly719Asp	rs121913428	missense variant	-	NC_000007.14:g.55174015G>A	UniProt,dbSNP
EGFR	P00533	p.Gly719Asp	VAR_026088	missense variant	-	NC_000007.14:g.55174015G>A	UniProt
EGFR	P00533	p.Gly719Asp	RCV000439067	missense variant	Lung adenocarcinoma	NC_000007.14:g.55174015G>A	ClinVar
EGFR	P00533	p.Gly719Ser	RCV000423860	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174014G>A	ClinVar
EGFR	P00533	p.Gly719Asp	RCV000428419	missense variant	Glioblastoma	NC_000007.14:g.55174015G>A	ClinVar
EGFR	P00533	p.Gly719Cys	RCV000433465	missense variant	Lung adenocarcinoma	NC_000007.14:g.55174014G>T	ClinVar
EGFR	P00533	p.Gly719Cys	RCV000426731	missense variant	Glioblastoma	NC_000007.14:g.55174014G>T	ClinVar
EGFR	P00533	p.Gly719Ser	rs28929495	missense variant	-	NC_000007.14:g.55174014G>A	-
EGFR	P00533	p.Gly719Ser	rs28929495	missense variant	-	NC_000007.14:g.55174014G>A	UniProt,dbSNP
EGFR	P00533	p.Gly719Ser	VAR_019297	missense variant	-	NC_000007.14:g.55174014G>A	UniProt
EGFR	P00533	p.Ser720Cys	rs772799315	missense variant	-	NC_000007.14:g.55174018C>G	ExAC,gnomAD
EGFR	P00533	p.Gly721Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55174021G>T	NCI-TCGA
EGFR	P00533	p.Ala722Val	rs762494280	missense variant	-	NC_000007.14:g.55174024C>T	ExAC,gnomAD
EGFR	P00533	p.Gly724Ser	RCV000421183	missense variant	Neoplasm of the large intestine	NC_000007.14:g.55174029G>A	ClinVar
EGFR	P00533	p.Gly724Ser	rs1051753269	missense variant	-	NC_000007.14:g.55174029G>A	TOPMed,gnomAD
EGFR	P00533	p.Thr725Met	rs767505234	missense variant	-	NC_000007.14:g.55174033C>T	ExAC,gnomAD
EGFR	P00533	p.Val726Met	RCV000114409	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55174035G>A	ClinVar
EGFR	P00533	p.Val726Met	rs483352805	missense variant	-	NC_000007.14:g.55174035G>A	-
EGFR	P00533	p.Tyr727Cys	rs138240620	missense variant	-	NC_000007.14:g.55174039A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Leu730Val	RCV000114407	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55174725C>G	ClinVar
EGFR	P00533	p.Leu730Val	rs121913434	missense variant	-	NC_000007.14:g.55174725C>G	-
EGFR	P00533	p.Leu730Arg	rs771995749	missense variant	-	NC_000007.14:g.55174726T>G	ExAC,gnomAD
EGFR	P00533	p.Leu730Pro	rs771995749	missense variant	-	NC_000007.14:g.55174726T>C	ExAC,gnomAD
EGFR	P00533	p.Trp731Ter	RCV000038384	nonsense	-	NC_000007.14:g.55174729G>A	ClinVar
EGFR	P00533	p.Trp731Ter	rs121913467	stop gained	-	NC_000007.14:g.55174730G>A	-
EGFR	P00533	p.Trp731Leu	rs397517089	missense variant	-	NC_000007.14:g.55174729G>T	gnomAD
EGFR	P00533	p.Trp731Ter	RCV000444748	nonsense	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174730G>A	ClinVar
EGFR	P00533	p.Trp731Ter	rs397517089	stop gained	-	NC_000007.14:g.55174729G>A	gnomAD
EGFR	P00533	p.Pro733Leu	RCV000441469	missense variant	Esophageal Squamous Cell Carcinoma	NC_000007.14:g.55174735C>T	ClinVar
EGFR	P00533	p.Pro733Leu	RCV000428149	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174735C>T	ClinVar
EGFR	P00533	p.Pro733Leu	rs121913446	missense variant	-	NC_000007.14:g.55174735C>T	-
EGFR	P00533	p.Glu734Lys	RCV000424211	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174737G>A	ClinVar
EGFR	P00533	p.Glu734Lys	rs121913420	missense variant	-	NC_000007.14:g.55174737G>A	UniProt,dbSNP
EGFR	P00533	p.Glu734Lys	VAR_026090	missense variant	-	NC_000007.14:g.55174737G>A	UniProt
EGFR	P00533	p.Glu734Lys	rs121913420	missense variant	-	NC_000007.14:g.55174737G>A	-
EGFR	P00533	p.Gly735Ser	RCV000442962	missense variant	Prostate neoplasm	NC_000007.14:g.55174740G>A	ClinVar
EGFR	P00533	p.Gly735Ser	rs121913430	missense variant	-	NC_000007.14:g.55174740G>A	-
EGFR	P00533	p.Gly735Ser	RCV000434054	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174740G>A	ClinVar
EGFR	P00533	p.Lys737Glu	COSM3639748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55174746A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Val738Ala	rs1488735128	missense variant	-	NC_000007.14:g.55174750T>C	gnomAD
EGFR	P00533	p.Lys739Asn	rs780083331	missense variant	-	NC_000007.14:g.55174754A>T	ExAC,gnomAD
EGFR	P00533	p.Ile740Thr	rs397517092	missense variant	-	NC_000007.14:g.55174756T>C	-
EGFR	P00533	p.Ile740Val	rs747133806	missense variant	-	NC_000007.14:g.55174755A>G	ExAC,gnomAD
EGFR	P00533	p.Ile740Thr	RCV000038387	missense variant	-	NC_000007.14:g.55174756T>C	ClinVar
EGFR	P00533	p.Pro741Leu	COSM17570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55174759C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Val742Ala	RCV000423407	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174762T>C	ClinVar
EGFR	P00533	p.Val742Ile	rs587778250	missense variant	-	NC_000007.14:g.55174761G>A	ExAC,gnomAD
EGFR	P00533	p.Val742Ile	RCV000120695	missense variant	-	NC_000007.14:g.55174761G>A	ClinVar
EGFR	P00533	p.Val742Ala	rs121913466	missense variant	-	NC_000007.14:g.55174762T>C	-
EGFR	P00533	p.Ala743Thr	rs759256622	missense variant	-	NC_000007.14:g.55174764G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ile744Val	rs1554348865	missense variant	-	NC_000007.14:g.55174767A>G	-
EGFR	P00533	p.Lys745Arg	RCV000433245	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55174771A>G	ClinVar
EGFR	P00533	p.Lys745Ter	RCV000154414	frameshift	-	NC_000007.14:g.55174769_55174787del	ClinVar
EGFR	P00533	p.Lys745Arg	rs121913433	missense variant	-	NC_000007.14:g.55174771A>G	-
EGFR	P00533	p.Glu746Gln	rs121913427	missense variant	-	NC_000007.14:g.55174773G>C	-
EGFR	P00533	p.Glu746Lys	RCV000424472	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174773G>A	ClinVar
EGFR	P00533	p.Glu746Gln	RCV000154381	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174773G>C	ClinVar
EGFR	P00533	p.Glu746Ter	RCV000154418	frameshift	-	NC_000007.14:g.55174768_55174769insAAAATTCCCGTCGCTA	ClinVar
EGFR	P00533	p.Glu746_Ser752delinsAsp	VAR_069499	deletion_insertion	-	-	UniProt
EGFR	P00533	p.Glu746_Ala750del	VAR_026092	inframe_deletion	-	-	UniProt
EGFR	P00533	p.Glu746del	VAR_026091	inframe_deletion	-	-	UniProt
EGFR	P00533	p.Glu746_Thr751delinsAla	VAR_069500	deletion_insertion	-	-	UniProt
EGFR	P00533	p.Leu747Pro	rs397517096	missense variant	-	NC_000007.14:g.55174776_55174777delinsCC	-
EGFR	P00533	p.Leu747Ser	RCV000443228	missense variant	Squamous cell lung carcinoma	NC_000007.14:g.55174777T>C	ClinVar
EGFR	P00533	p.Leu747Ser	RCV000434243	missense variant	Lung cancer	NC_000007.14:g.55174777T>C	ClinVar
EGFR	P00533	p.Leu747Pro	RCV000038391	missense variant	-	NC_000007.14:g.55174776_55174777delinsCC	ClinVar
EGFR	P00533	p.Leu747Phe	VAR_026093	Missense	-	-	UniProt
EGFR	P00533	p.Leu747_Glu749del	VAR_026094	inframe_deletion	-	-	UniProt
EGFR	P00533	p.Leu747_Thr751del	VAR_069501	inframe_deletion	-	-	UniProt
EGFR	P00533	p.Arg748Ser	rs1338629905	missense variant	-	NC_000007.14:g.55174781A>T	TOPMed
EGFR	P00533	p.Arg748Lys	rs1379373864	missense variant	-	NC_000007.14:g.55174780G>A	gnomAD
EGFR	P00533	p.Arg748Pro	VAR_026095	Missense	-	-	UniProt
EGFR	P00533	p.Glu749Gln	RCV000444877	missense variant	Lung cancer	NC_000007.14:g.55174782G>C	ClinVar
EGFR	P00533	p.Glu749Gln	rs1057520037	missense variant	-	NC_000007.14:g.55174782G>C	-
EGFR	P00533	p.Ala750Gly	rs1468115455	missense variant	-	NC_000007.14:g.55174786C>G	TOPMed
EGFR	P00533	p.Ala750Pro	RCV000038395	missense variant	-	NC_000007.14:g.55174785G>C	ClinVar
EGFR	P00533	p.Thr751Ter	RCV000154293	frameshift	-	NC_000007.14:g.55174788_55174812del	ClinVar
EGFR	P00533	p.Thr751Ile	rs727504316	missense variant	-	NC_000007.14:g.55174789C>T	ExAC,gnomAD
EGFR	P00533	p.Thr751Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55174788A>C	NCI-TCGA
EGFR	P00533	p.Thr751AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55174789C>-	NCI-TCGA
EGFR	P00533	p.Thr751Ile	RCV000154392	missense variant	-	NC_000007.14:g.55174789C>T	ClinVar
EGFR	P00533	p.Ser752Tyr	RCV000432149	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174792C>A	ClinVar
EGFR	P00533	p.Ser752ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55174791_55174813TCTCCGAAAGCCAACAAGGAAAT>-	NCI-TCGA
EGFR	P00533	p.Ser752Phe	COSM4170219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55174792C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Ser752Thr	rs1373423544	missense variant	-	NC_000007.14:g.55174791T>A	gnomAD
EGFR	P00533	p.Ser752Tyr	rs121913464	missense variant	-	NC_000007.14:g.55174792C>A	-
EGFR	P00533	p.Ser752_Ile759del	VAR_026096	inframe_deletion	-	-	UniProt
EGFR	P00533	p.Pro753Ser	RCV000436542	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174794C>T	ClinVar
EGFR	P00533	p.Pro753Ser	RCV000441908	missense variant	Head and Neck Neoplasms	NC_000007.14:g.55174794C>T	ClinVar
EGFR	P00533	p.Pro753Leu	rs559717059	missense variant	-	NC_000007.14:g.55174795C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro753Ser	rs121913231	missense variant	-	NC_000007.14:g.55174794C>T	ExAC,gnomAD
EGFR	P00533	p.Pro753Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55174795C>A	NCI-TCGA
EGFR	P00533	p.Lys754Glu	RCV000038397	missense variant	-	NC_000007.14:g.55174797A>G	ClinVar
EGFR	P00533	p.Lys754Ile	COSM1140059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55174798A>T	NCI-TCGA Cosmic
EGFR	P00533	p.Lys754Glu	rs397517101	missense variant	-	NC_000007.14:g.55174797A>G	-
EGFR	P00533	p.Lys757Arg	rs397517102	missense variant	-	NC_000007.14:g.55174807A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Lys757Arg	RCV000677877	missense variant	Lung adenocarcinoma	NC_000007.14:g.55174807A>G	ClinVar
EGFR	P00533	p.Lys757Met	RCV000038398	missense variant	-	NC_000007.14:g.55174807A>T	ClinVar
EGFR	P00533	p.Lys757Met	rs397517102	missense variant	-	NC_000007.14:g.55174807A>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu758Gly	rs761470472	missense variant	-	NC_000007.14:g.55174810A>G	ExAC,gnomAD
EGFR	P00533	p.Leu760Ter	RCV000150621	frameshift	-	NC_000007.14:g.55174814_55174815insT	ClinVar
EGFR	P00533	p.Asp761Tyr	rs121913418	missense variant	-	NC_000007.14:g.55174818G>T	gnomAD
EGFR	P00533	p.Asp761Tyr	RCV000038400	missense variant	-	NC_000007.14:g.55174818G>T	ClinVar
EGFR	P00533	p.Asp761Asn	RCV000425618	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55174818G>A	ClinVar
EGFR	P00533	p.Asp761Asn	rs121913418	missense variant	-	NC_000007.14:g.55174818G>A	gnomAD
EGFR	P00533	p.Ala763Val	rs1476693500	missense variant	-	NC_000007.14:g.55181297C>T	gnomAD
EGFR	P00533	p.Val765Leu	rs374873413	missense variant	-	NC_000007.14:g.55181302G>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val765HisHis	RCV000150622	insertion	-	NC_000007.14:g.55181301_55181302insCATCAC	ClinVar
EGFR	P00533	p.Val765Met	rs374873413	missense variant	-	NC_000007.14:g.55181302G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Met766Leu	rs1323967615	missense variant	-	NC_000007.14:g.55181305A>T	gnomAD
EGFR	P00533	p.Met766Ile	rs1322818258	missense variant	-	NC_000007.14:g.55181307G>A	gnomAD
EGFR	P00533	p.Ala767Val	rs397517107	missense variant	-	NC_000007.14:g.55181309C>T	-
EGFR	P00533	p.Ala767Val	RCV000038406	missense variant	-	NC_000007.14:g.55181309C>T	ClinVar
EGFR	P00533	p.Ser768Ile	RCV000038407	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181312G>T	ClinVar
EGFR	P00533	p.Ser768Gly	rs756614898	missense variant	-	NC_000007.14:g.55181311A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser768Ile	rs397517108	missense variant	-	NC_000007.14:g.55181312_55181313delinsTT	-
EGFR	P00533	p.Ser768Arg	rs778199483	missense variant	-	NC_000007.14:g.55181313C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser768Ile	rs121913465	missense variant	-	NC_000007.14:g.55181312G>T	UniProt,dbSNP
EGFR	P00533	p.Ser768Ile	VAR_069502	missense variant	-	NC_000007.14:g.55181312G>T	UniProt
EGFR	P00533	p.Ser768Ile	RCV000038408	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181312_55181313delinsTT	ClinVar
EGFR	P00533	p.Val769Met	RCV000206947	missense variant	Lung cancer	NC_000007.14:g.55181314G>A	ClinVar
EGFR	P00533	p.Val769Leu	RCV000038410	missense variant	-	NC_000007.14:g.55181314G>C	ClinVar
EGFR	P00533	p.Val769Met	rs147149347	missense variant	-	NC_000007.14:g.55181314G>A	UniProt,dbSNP
EGFR	P00533	p.Val769Met	VAR_069503	missense variant	-	NC_000007.14:g.55181314G>A	UniProt
EGFR	P00533	p.Val769Met	rs147149347	missense variant	-	NC_000007.14:g.55181314G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val769Leu	rs147149347	missense variant	-	NC_000007.14:g.55181314G>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val769Leu	RCV000038411	missense variant	-	NC_000007.14:g.55181314G>T	ClinVar
EGFR	P00533	p.Val769Leu	rs147149347	missense variant	-	NC_000007.14:g.55181314G>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp770Ter	RCV000150623	frameshift	-	NC_000007.14:g.55181317_55181319delinsTGGG	ClinVar
EGFR	P00533	p.Asp770GlyLeu	COSM48921	insertion	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55181319_55181320insGGGTTA	NCI-TCGA Cosmic
EGFR	P00533	p.Asn771Asp	rs727503020	missense variant	-	NC_000007.14:g.55181320A>G	-
EGFR	P00533	p.Asn771GlyLeu	RCV000038413	insertion	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181319_55181320insGGGTTG	ClinVar
EGFR	P00533	p.Asn771Asp	RCV000150625	missense variant	-	NC_000007.14:g.55181320A>G	ClinVar
EGFR	P00533	p.Pro772Val	RCV000150626	insertion	-	NC_000007.14:g.55181321_55181322insTGT	ClinVar
EGFR	P00533	p.Pro772Ala	rs746677478	missense variant	-	NC_000007.14:g.55181323C>G	ExAC,gnomAD
EGFR	P00533	p.Pro772His	RCV000038414	insertion	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181321_55181323dup	ClinVar
EGFR	P00533	p.His773Arg	RCV000420488	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181327A>G	ClinVar
EGFR	P00533	p.His773ProAsnPro	RCV000154617	insertion	-	NC_000007.14:g.55181326_55181327insCGAACCCCC	ClinVar
EGFR	P00533	p.His773Gln	rs768468531	missense variant	-	NC_000007.14:g.55181328C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.His773Arg	rs121913432	missense variant	-	NC_000007.14:g.55181327A>G	-
EGFR	P00533	p.Val774AlaHis	RCV000038416	insertion	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181324_55181329dup	ClinVar
EGFR	P00533	p.Val774Leu	rs567477136	missense variant	-	NC_000007.14:g.55181329G>C	1000Genomes,TOPMed,gnomAD
EGFR	P00533	p.Val774GlyHis	RCV000038419	insertion	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181329_55181330insGCCACG	ClinVar
EGFR	P00533	p.Val774Met	rs567477136	missense variant	-	NC_000007.14:g.55181329G>A	1000Genomes,TOPMed,gnomAD
EGFR	P00533	p.Arg776His	rs483352806	missense variant	-	NC_000007.14:g.55181336G>A	gnomAD
EGFR	P00533	p.Arg776His	RCV000150627	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181336G>A	ClinVar
EGFR	P00533	p.Arg776Cys	rs1275022697	missense variant	-	NC_000007.14:g.55181335C>T	TOPMed
EGFR	P00533	p.Gly779Val	RCV000038423	missense variant	-	NC_000007.14:g.55181345G>T	ClinVar
EGFR	P00533	p.Gly779Val	rs397517120	missense variant	-	NC_000007.14:g.55181345G>T	-
EGFR	P00533	p.Gly779Cys	RCV000038422	missense variant	-	NC_000007.14:g.55181344G>T	ClinVar
EGFR	P00533	p.Gly779Cys	rs397517119	missense variant	-	NC_000007.14:g.55181344G>T	-
EGFR	P00533	p.Leu782Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55181353C>T	NCI-TCGA
EGFR	P00533	p.Ser784Cys	rs1424329195	missense variant	-	NC_000007.14:g.55181360C>G	gnomAD
EGFR	P00533	p.Ser784Phe	rs1424329195	missense variant	-	NC_000007.14:g.55181360C>T	gnomAD
EGFR	P00533	p.Val786Met	rs762672864	missense variant	-	NC_000007.14:g.55181365G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val786Leu	rs762672864	missense variant	-	NC_000007.14:g.55181365G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gln787His	rs1050171	missense variant	-	NC_000007.14:g.55181370G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gln787Pro	rs1458440474	missense variant	-	NC_000007.14:g.55181369A>C	gnomAD
EGFR	P00533	p.Gln787Arg	VAR_026097	Missense	-	-	UniProt
EGFR	P00533	p.Ile789Leu	rs767674013	missense variant	-	NC_000007.14:g.55181374A>C	ExAC,gnomAD
EGFR	P00533	p.Ile789Met	COSM4826400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55181376C>G	NCI-TCGA Cosmic
EGFR	P00533	p.Thr790Met	RCV000154233	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181378C>T	ClinVar
EGFR	P00533	p.Thr790Met	rs121434569	missense variant	-	NC_000007.14:g.55181378C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr790Met	rs121434569	missense variant	-	NC_000007.14:g.55181378C>T	UniProt,dbSNP
EGFR	P00533	p.Thr790Met	VAR_026098	missense variant	-	NC_000007.14:g.55181378C>T	UniProt
EGFR	P00533	p.Gln791His	rs1413493019	missense variant	-	NC_000007.14:g.55181382G>T	gnomAD
EGFR	P00533	p.Pro794Thr	rs370289230	missense variant	-	NC_000007.14:g.55181389C>A	ESP,TOPMed
EGFR	P00533	p.Gly796Ser	rs754426793	missense variant	-	NC_000007.14:g.55181395G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Cys797Ser	RCV000440892	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55181398T>A	ClinVar
EGFR	P00533	p.Cys797Ser	rs1057519861	missense variant	-	NC_000007.14:g.55181398T>A	-
EGFR	P00533	p.Leu798His	rs483352807	missense variant	-	NC_000007.14:g.55181402T>A	-
EGFR	P00533	p.Leu798His	RCV000114408	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55181402T>A	ClinVar
EGFR	P00533	p.Asp800Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55181408A>G	NCI-TCGA
EGFR	P00533	p.Tyr801Cys	rs779394350	missense variant	-	NC_000007.14:g.55181411A>G	ExAC,gnomAD
EGFR	P00533	p.Tyr801LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55181409_55181410insCT	NCI-TCGA
EGFR	P00533	p.Tyr801His	rs757642107	missense variant	-	NC_000007.14:g.55181410T>C	ExAC,gnomAD
EGFR	P00533	p.Val802Phe	rs1351046105	missense variant	-	NC_000007.14:g.55181413G>T	TOPMed,gnomAD
EGFR	P00533	p.Val802Ile	rs1351046105	missense variant	-	NC_000007.14:g.55181413G>A	TOPMed,gnomAD
EGFR	P00533	p.Arg803Trp	rs1215679186	missense variant	-	NC_000007.14:g.55181416C>T	TOPMed,gnomAD
EGFR	P00533	p.Arg803Gln	rs1263602634	missense variant	-	NC_000007.14:g.55181417G>A	TOPMed,gnomAD
EGFR	P00533	p.Arg803Trp	RCV000709012	missense variant	Hereditary cancer	NC_000007.14:g.55181416C>T	ClinVar
EGFR	P00533	p.Glu804Lys	rs552733360	missense variant	-	NC_000007.14:g.55181419G>A	1000Genomes,gnomAD
EGFR	P00533	p.His805Arg	COSM485464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55181423A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Lys806Glu	rs754652044	missense variant	-	NC_000007.14:g.55181425A>G	ExAC,gnomAD
EGFR	P00533	p.Gly810Ser	RCV000444211	missense variant	Squamous cell carcinoma	NC_000007.14:g.55181437G>A	ClinVar
EGFR	P00533	p.Gly810Asp	RCV000425650	missense variant	Squamous cell carcinoma	NC_000007.14:g.55181438G>A	ClinVar
EGFR	P00533	p.Gly810Ser	rs121913230	missense variant	-	NC_000007.14:g.55181437G>A	-
EGFR	P00533	p.Gly810Asp	rs121913431	missense variant	-	NC_000007.14:g.55181438G>A	-
EGFR	P00533	p.Ser811Cys	rs1378775962	missense variant	-	NC_000007.14:g.55181441C>G	gnomAD
EGFR	P00533	p.Leu815Phe	rs1278942267	missense variant	-	NC_000007.14:g.55181452C>T	TOPMed
EGFR	P00533	p.Asn816Asp	rs1418675303	missense variant	-	NC_000007.14:g.55181455A>G	gnomAD
EGFR	P00533	p.Ile821Met	rs367859869	missense variant	-	NC_000007.14:g.55181472C>G	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala822Thr	RCV000038431	missense variant	-	NC_000007.14:g.55181473G>A	ClinVar
EGFR	P00533	p.Ala822Thr	rs397517125	missense variant	-	NC_000007.14:g.55181473G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly824Asp	rs483352808	missense variant	-	NC_000007.14:g.55191720G>A	ExAC,gnomAD
EGFR	P00533	p.Gly824Asp	RCV000114406	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000007.14:g.55191720G>A	ClinVar
EGFR	P00533	p.Met825Ile	rs1474170437	missense variant	-	NC_000007.14:g.55191724G>T	TOPMed
EGFR	P00533	p.Tyr827Phe	rs150749913	missense variant	-	NC_000007.14:g.55191729A>T	ESP
EGFR	P00533	p.Tyr827Ter	COSM1090890	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.55191730C>A	NCI-TCGA Cosmic
EGFR	P00533	p.Tyr827His	rs1256743514	missense variant	-	NC_000007.14:g.55191728T>C	TOPMed
EGFR	P00533	p.Glu829Gln	rs1489158055	missense variant	-	NC_000007.14:g.55191734G>C	TOPMed
EGFR	P00533	p.Glu829Gln	RCV000709013	missense variant	Hereditary cancer	NC_000007.14:g.55191734G>C	ClinVar
EGFR	P00533	p.Arg831His	RCV000677878	missense variant	Lung adenocarcinoma	NC_000007.14:g.55191741G>A	ClinVar
EGFR	P00533	p.Arg831Cys	rs371228501	missense variant	-	NC_000007.14:g.55191740C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg831His	rs150036236	missense variant	-	NC_000007.14:g.55191741G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg831His	RCV000677875	missense variant	Squamous cell lung carcinoma	NC_000007.14:g.55191741G>A	ClinVar
EGFR	P00533	p.Arg831Cys	RCV000038432	missense variant	-	NC_000007.14:g.55191740C>T	ClinVar
EGFR	P00533	p.Arg832His	rs772091823	missense variant	-	NC_000007.14:g.55191744G>A	ExAC,gnomAD
EGFR	P00533	p.Arg832Leu	rs772091823	missense variant	-	NC_000007.14:g.55191744G>T	ExAC,gnomAD
EGFR	P00533	p.Arg832Cys	rs745812480	missense variant	-	NC_000007.14:g.55191743C>T	ExAC,gnomAD
EGFR	P00533	p.Leu833Val	RCV000038433	missense variant	-	NC_000007.14:g.55191746T>G	ClinVar
EGFR	P00533	p.Leu833Phe	COSM219794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55191748G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Leu833Val	rs397517126	missense variant	-	NC_000007.14:g.55191746T>G	UniProt,dbSNP
EGFR	P00533	p.Leu833Val	VAR_026099	missense variant	-	NC_000007.14:g.55191746T>G	UniProt
EGFR	P00533	p.Leu833Val	rs397517126	missense variant	-	NC_000007.14:g.55191746T>G	-
EGFR	P00533	p.Val834Leu	RCV000038435	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55191749G>T	ClinVar
EGFR	P00533	p.Val834Leu	RCV000038434	missense variant	-	NC_000007.14:g.55191749G>C	ClinVar
EGFR	P00533	p.Val834Leu	rs397517127	missense variant	-	NC_000007.14:g.55191749G>T	UniProt,dbSNP
EGFR	P00533	p.Val834Leu	VAR_026100	missense variant	-	NC_000007.14:g.55191749G>T	UniProt
EGFR	P00533	p.Val834Leu	rs397517127	missense variant	-	NC_000007.14:g.55191749G>T	-
EGFR	P00533	p.His835Leu	RCV000206918	missense variant	Lung cancer	NC_000007.14:g.55191753A>T	ClinVar
EGFR	P00533	p.His835SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55191751_55191752insAGCCTAACTCTCCCTTT	NCI-TCGA
EGFR	P00533	p.His835Leu	RCV000038436	missense variant	-	NC_000007.14:g.55191753A>T	ClinVar
EGFR	P00533	p.His835Ter	RCV000150628	frameshift	-	NC_000007.14:g.55191753_55191840del	ClinVar
EGFR	P00533	p.His835Leu	rs397517128	missense variant	-	NC_000007.14:g.55191753A>T	UniProt,dbSNP
EGFR	P00533	p.His835Leu	VAR_069504	missense variant	-	NC_000007.14:g.55191753A>T	UniProt
EGFR	P00533	p.His835Leu	rs397517128	missense variant	-	NC_000007.14:g.55191753A>T	-
EGFR	P00533	p.Arg836Cys	rs374952732	missense variant	-	NC_000007.14:g.55191755C>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg836His	rs146121458	missense variant	-	NC_000007.14:g.55191756G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp837Val	rs1402174871	missense variant	-	NC_000007.14:g.55191759A>T	TOPMed
EGFR	P00533	p.Asp837Asn	rs761920220	missense variant	-	NC_000007.14:g.55191758G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Leu838Val	RCV000206923	missense variant	Lung cancer	NC_000007.14:g.55191761C>G	ClinVar
EGFR	P00533	p.Leu838Val	rs864621996	missense variant	-	NC_000007.14:g.55191761C>G	-
EGFR	P00533	p.Ala840Thr	rs143884981	missense variant	-	NC_000007.14:g.55191767G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg841Ser	rs773720036	missense variant	-	NC_000007.14:g.55191772G>C	ExAC,gnomAD
EGFR	P00533	p.Val843Ile	rs146795390	missense variant	-	NC_000007.14:g.55191776G>A	ESP,gnomAD
EGFR	P00533	p.Val843Leu	COSM747424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55191776G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Val843Ile	RCV000426205	missense variant	Head and Neck Neoplasms	NC_000007.14:g.55191776G>A	ClinVar
EGFR	P00533	p.Thr847Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55191789C>A	NCI-TCGA
EGFR	P00533	p.Pro848Leu	rs148934350	missense variant	-	NC_000007.14:g.55191792C>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro848Gln	rs148934350	missense variant	-	NC_000007.14:g.55191792C>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro848Leu	RCV000038438	missense variant	-	NC_000007.14:g.55191792C>T	ClinVar
EGFR	P00533	p.Gln849His	rs1433831615	missense variant	-	NC_000007.14:g.55191796G>T	gnomAD
EGFR	P00533	p.Lys852Arg	rs1292517709	missense variant	-	NC_000007.14:g.55191804A>G	TOPMed,gnomAD
EGFR	P00533	p.Lys852Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55191804A>C	NCI-TCGA
EGFR	P00533	p.Lys852Arg	RCV000709015	missense variant	Hereditary cancer	NC_000007.14:g.55191804A>G	ClinVar
EGFR	P00533	p.Leu858Arg	RCV000150629	missense variant	-	NC_000007.14:g.55191822T>G	ClinVar
EGFR	P00533	p.Leu858Met	RCV000431153	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55191821C>A	ClinVar
EGFR	P00533	p.Leu858Arg	RCV000211410	missense variant	-	NC_000007.14:g.55191822T>G	ClinVar
EGFR	P00533	p.Leu858Arg	RCV000018083	missense variant	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic	NC_000007.14:g.55191822T>G	ClinVar
EGFR	P00533	p.Leu858Arg	rs1057519847	missense variant	-	NC_000007.14:g.55191821_55191822inv	-
EGFR	P00533	p.Leu858Arg	rs1057519848	missense variant	-	NC_000007.14:g.55191822_55191823delinsGT	-
EGFR	P00533	p.Leu858Arg	rs121434568	missense variant	-	NC_000007.14:g.55191822T>G	UniProt,dbSNP
EGFR	P00533	p.Leu858Arg	VAR_019298	missense variant	-	NC_000007.14:g.55191822T>G	UniProt
EGFR	P00533	p.Leu858Gln	RCV000419082	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55191822T>A	ClinVar
EGFR	P00533	p.Leu858Arg	RCV000018084	missense variant	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic	NC_000007.14:g.55191822T>G	ClinVar
EGFR	P00533	p.Leu858Arg	RCV000211323	missense variant	-	NC_000007.14:g.55191822T>G	ClinVar
EGFR	P00533	p.Leu858Arg	RCV000211235	missense variant	-	NC_000007.14:g.55191822T>G	ClinVar
EGFR	P00533	p.Leu858Arg	RCV000425876	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55191822_55191823delinsGT	ClinVar
EGFR	P00533	p.Leu858Arg	RCV000435887	missense variant	Non-small cell lung cancer (NSCLC)	NC_000007.14:g.55191821_55191822inv	ClinVar
EGFR	P00533	p.Leu858Met	rs121913443	missense variant	-	NC_000007.14:g.55191821C>A	UniProt,dbSNP
EGFR	P00533	p.Leu858Met	VAR_026101	missense variant	-	NC_000007.14:g.55191821C>A	UniProt
EGFR	P00533	p.Ala859Val	rs763666690	missense variant	-	NC_000007.14:g.55191825C>T	ExAC,gnomAD
EGFR	P00533	p.Lys860Asn	RCV000038442	missense variant	-	NC_000007.14:g.55191829A>T	ClinVar
EGFR	P00533	p.Lys860Asn	rs397517130	missense variant	-	NC_000007.14:g.55191829A>T	-
EGFR	P00533	p.Leu861Gln	rs121913444	missense variant	-	NC_000007.14:g.55191831T>A	UniProt,dbSNP
EGFR	P00533	p.Leu861Gln	VAR_026102	missense variant	-	NC_000007.14:g.55191831T>A	UniProt
EGFR	P00533	p.Leu861Pro	RCV000427689	missense variant	Squamous cell lung carcinoma	NC_000007.14:g.55191831T>C	ClinVar
EGFR	P00533	p.Leu861Gln	RCV000150630	missense variant	-	NC_000007.14:g.55191831T>A	ClinVar
EGFR	P00533	p.Leu861Arg	RCV000038443	missense variant	-	NC_000007.14:g.55191831T>G	ClinVar
EGFR	P00533	p.Gly863Asp	rs909797662	missense variant	-	NC_000007.14:g.55191837G>A	TOPMed
EGFR	P00533	p.Ala864Thr	rs1171287261	missense variant	-	NC_000007.14:g.55191839G>A	TOPMed
EGFR	P00533	p.Ala864Val	COSM219795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55191840C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Glu866Val	RCV000038445	missense variant	-	NC_000007.14:g.55191846A>T	ClinVar
EGFR	P00533	p.Glu866Val	rs397517132	missense variant	-	NC_000007.14:g.55191846A>T	-
EGFR	P00533	p.Glu866Lys	rs756703787	missense variant	-	NC_000007.14:g.55191845G>A	ExAC,gnomAD
EGFR	P00533	p.Glu868Lys	RCV000119351	missense variant	Familial cancer of breast	NC_000007.14:g.55191851G>A	ClinVar
EGFR	P00533	p.Glu868Lys	rs104886013	missense variant	-	NC_000007.14:g.55191851G>A	gnomAD
EGFR	P00533	p.Glu868Gln	rs104886013	missense variant	-	NC_000007.14:g.55191851G>C	gnomAD
EGFR	P00533	p.Tyr869Cys	rs1440961719	missense variant	-	NC_000007.14:g.55191855A>G	gnomAD
EGFR	P00533	p.Ala871Gly	rs397517134	missense variant	-	NC_000007.14:g.55191861C>G	-
EGFR	P00533	p.Ala871Gly	RCV000038447	missense variant	-	NC_000007.14:g.55191861C>G	ClinVar
EGFR	P00533	p.Glu872Gly	COSM53290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55191864A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Gly873Glu	VAR_026103	Missense	-	-	UniProt
EGFR	P00533	p.Lys879Asn	rs766161581	missense variant	-	NC_000007.14:g.55192777G>C	ExAC,gnomAD
EGFR	P00533	p.Trp880Ter	COSM3929122	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.55192780G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Met881Val	rs956455215	missense variant	-	NC_000007.14:g.55192781A>G	TOPMed
EGFR	P00533	p.Met881Thr	rs397517136	missense variant	-	NC_000007.14:g.55192782T>C	-
EGFR	P00533	p.Met881Thr	RCV000038449	missense variant	-	NC_000007.14:g.55192782T>C	ClinVar
EGFR	P00533	p.Met881Ile	rs751549547	missense variant	-	NC_000007.14:g.55192783G>T	ExAC,gnomAD
EGFR	P00533	p.Glu884Gly	rs754772262	missense variant	-	NC_000007.14:g.55192791A>G	ExAC,gnomAD
EGFR	P00533	p.Ser885Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.55192794C>G	NCI-TCGA
EGFR	P00533	p.Ser885Leu	RCV000038450	missense variant	-	NC_000007.14:g.55192794C>T	ClinVar
EGFR	P00533	p.Ser885Leu	rs397517137	missense variant	-	NC_000007.14:g.55192794C>T	-
EGFR	P00533	p.His888Gln	rs756403828	missense variant	-	NC_000007.14:g.55192804C>G	ExAC,gnomAD
EGFR	P00533	p.His888Arg	rs748000023	missense variant	-	NC_000007.14:g.55192803A>G	ExAC,gnomAD
EGFR	P00533	p.Tyr891Cys	rs987884612	missense variant	-	NC_000007.14:g.55192812A>G	TOPMed
EGFR	P00533	p.Thr892Ile	rs151064287	missense variant	-	NC_000007.14:g.55192815C>T	ESP,ExAC,gnomAD
EGFR	P00533	p.Thr892Ala	rs1468532072	missense variant	-	NC_000007.14:g.55192814A>G	TOPMed
EGFR	P00533	p.His893Tyr	COSM1451615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55192817C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Gln894His	rs749270913	missense variant	-	NC_000007.14:g.55192822G>T	ExAC,gnomAD
EGFR	P00533	p.Val897Ile	rs1238258563	missense variant	-	NC_000007.14:g.55192829G>A	gnomAD
EGFR	P00533	p.Val897Ala	rs1334821010	missense variant	-	NC_000007.14:g.55192830T>C	TOPMed
EGFR	P00533	p.Gly901Ala	rs1009023863	missense variant	-	NC_000007.14:g.55198717G>C	TOPMed,gnomAD
EGFR	P00533	p.Gly901Val	COSM6178050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55198717G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Gly901Arg	rs1399582136	missense variant	-	NC_000007.14:g.55192841G>C	gnomAD
EGFR	P00533	p.Val902Leu	rs779015469	missense variant	-	NC_000007.14:g.55198719G>T	ExAC,gnomAD
EGFR	P00533	p.Thr903Ser	rs1375731369	missense variant	-	NC_000007.14:g.55198723C>G	gnomAD
EGFR	P00533	p.Val904Ile	rs538497054	missense variant	-	NC_000007.14:g.55198725G>A	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Leu907Met	rs1218871031	missense variant	-	NC_000007.14:g.55198734T>A	TOPMed
EGFR	P00533	p.Met908Thr	rs1431327306	missense variant	-	NC_000007.14:g.55198738T>C	TOPMed,gnomAD
EGFR	P00533	p.Ser912Tyr	rs1011342626	missense variant	-	NC_000007.14:g.55198750C>A	gnomAD
EGFR	P00533	p.Tyr915Ter	rs1275784384	stop gained	-	NC_000007.14:g.55198760T>A	TOPMed
EGFR	P00533	p.Asp916Asn	rs376822837	missense variant	-	NC_000007.14:g.55198761G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp916Gly	rs1203302510	missense variant	-	NC_000007.14:g.55198762A>G	gnomAD
EGFR	P00533	p.Gly917Arg	rs775695605	missense variant	-	NC_000007.14:g.55198764G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly917Ala	COSM1090893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55198765G>C	NCI-TCGA Cosmic
EGFR	P00533	p.Ile918Phe	rs1321754240	missense variant	-	NC_000007.14:g.55198767A>T	gnomAD
EGFR	P00533	p.Pro919Thr	rs1390478413	missense variant	-	NC_000007.14:g.55198770C>A	TOPMed
EGFR	P00533	p.Ala920Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55198773G>T	NCI-TCGA
EGFR	P00533	p.Ser921Arg	rs770529788	missense variant	-	NC_000007.14:g.55198778C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu922Val	rs773998239	missense variant	-	NC_000007.14:g.55198780A>T	ExAC,gnomAD
EGFR	P00533	p.Glu922Gln	rs961150162	missense variant	-	NC_000007.14:g.55198779G>C	TOPMed,gnomAD
EGFR	P00533	p.Glu922Lys	rs961150162	missense variant	-	NC_000007.14:g.55198779G>A	TOPMed,gnomAD
EGFR	P00533	p.Ser924Phe	rs1421825015	missense variant	-	NC_000007.14:g.55198786C>T	TOPMed
EGFR	P00533	p.Ile926Thr	rs767507216	missense variant	-	NC_000007.14:g.55198792T>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ile926Leu	rs759179459	missense variant	-	NC_000007.14:g.55198791A>C	ExAC,gnomAD
EGFR	P00533	p.Ile926Asn	rs767507216	missense variant	-	NC_000007.14:g.55198792T>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu928Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55198798A>T	NCI-TCGA
EGFR	P00533	p.Lys929Arg	rs1247205023	missense variant	-	NC_000007.14:g.55198801A>G	TOPMed
EGFR	P00533	p.Arg932Cys	rs1223694747	missense variant	-	NC_000007.14:g.55198809C>T	TOPMed
EGFR	P00533	p.Pro934Ser	rs575565383	missense variant	-	NC_000007.14:g.55198815C>T	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro937Leu	COSM3881829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55198825C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Ile938Met	rs763924711	missense variant	-	NC_000007.14:g.55198829A>G	ExAC,gnomAD
EGFR	P00533	p.Thr940Ala	rs753612121	missense variant	-	NC_000007.14:g.55198833A>G	ExAC,gnomAD
EGFR	P00533	p.Ile941Met	rs757493321	missense variant	-	NC_000007.14:g.55198838C>G	ExAC,gnomAD
EGFR	P00533	p.Asp942Ala	rs1271051562	missense variant	-	NC_000007.14:g.55198840A>C	gnomAD
EGFR	P00533	p.Asp942His	rs967910623	missense variant	-	NC_000007.14:g.55198839G>C	TOPMed,gnomAD
EGFR	P00533	p.Asp942Asn	rs967910623	missense variant	-	NC_000007.14:g.55198839G>A	TOPMed,gnomAD
EGFR	P00533	p.Val943Asp	rs1375457410	missense variant	-	NC_000007.14:g.55198843T>A	gnomAD
EGFR	P00533	p.Met945Val	rs779164024	missense variant	-	NC_000007.14:g.55198848A>G	ExAC,gnomAD
EGFR	P00533	p.Ile946Val	rs1169803481	missense variant	-	NC_000007.14:g.55198851A>G	gnomAD
EGFR	P00533	p.Met947Leu	rs368698152	missense variant	-	NC_000007.14:g.55198854A>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Met947Val	rs368698152	missense variant	-	NC_000007.14:g.55198854A>G	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val948Ile	rs542967903	missense variant	-	NC_000007.14:g.55198857G>A	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Cys950Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.55200317C>A	NCI-TCGA
EGFR	P00533	p.MetIleAspAla952MetIleAspGlyTerThrUnk	rs773001497	stop gained	-	NC_000007.14:g.55200323_55200330dup	ExAC,gnomAD
EGFR	P00533	p.Ala955Thr	rs201830126	missense variant	-	NC_000007.14:g.55200330G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp956Asn	rs104886026	missense variant	-	NC_000007.14:g.55200333G>A	-
EGFR	P00533	p.Asp956Val	rs1185470008	missense variant	-	NC_000007.14:g.55200334A>T	TOPMed,gnomAD
EGFR	P00533	p.Asp956Asn	RCV000119366	missense variant	Endometrial carcinoma	NC_000007.14:g.55200333G>A	ClinVar
EGFR	P00533	p.Arg958Cys	COSM3923815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55200339C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Arg958His	rs1368179445	missense variant	-	NC_000007.14:g.55200340G>A	TOPMed,gnomAD
EGFR	P00533	p.Lys960Glu	rs1359029869	missense variant	-	NC_000007.14:g.55200345A>G	gnomAD
EGFR	P00533	p.Arg962Cys	rs17337451	missense variant	-	NC_000007.14:g.55200351C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg962Gly	rs17337451	missense variant	-	NC_000007.14:g.55200351C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg962Ser	rs17337451	missense variant	-	NC_000007.14:g.55200351C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg962His	rs144496976	missense variant	-	NC_000007.14:g.55200352G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg962His	RCV000120696	missense variant	-	NC_000007.14:g.55200352G>A	ClinVar
EGFR	P00533	p.Glu963Gly	rs751632602	missense variant	-	NC_000007.14:g.55200355A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ile966Val	rs1383485737	missense variant	-	NC_000007.14:g.55200363A>G	gnomAD
EGFR	P00533	p.Glu967Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55200367A>C	NCI-TCGA
EGFR	P00533	p.Lys970Arg	rs755504552	missense variant	-	NC_000007.14:g.55200376A>G	ExAC,gnomAD
EGFR	P00533	p.Met971Thr	rs781609053	missense variant	-	NC_000007.14:g.55200379T>C	ExAC,gnomAD
EGFR	P00533	p.Arg973Gly	rs748491031	missense variant	-	NC_000007.14:g.55200384C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg973Ter	rs748491031	stop gained	-	NC_000007.14:g.55200384C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg973Gln	rs756554871	missense variant	-	NC_000007.14:g.55200385G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp974Asn	rs1486130926	missense variant	-	NC_000007.14:g.55200387G>A	gnomAD
EGFR	P00533	p.Pro975Leu	rs1215599430	missense variant	-	NC_000007.14:g.55200391C>T	TOPMed,gnomAD
EGFR	P00533	p.Gln976Glu	rs1486804407	missense variant	-	NC_000007.14:g.55200393C>G	gnomAD
EGFR	P00533	p.Arg977Pro	rs745490627	missense variant	-	NC_000007.14:g.55200397G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg977His	rs745490627	missense variant	-	NC_000007.14:g.55200397G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ile981Thr	rs771888227	missense variant	-	NC_000007.14:g.55200409T>C	ExAC,gnomAD
EGFR	P00533	p.Ile981Met	rs1042344966	missense variant	-	NC_000007.14:g.55200410T>G	TOPMed
EGFR	P00533	p.Gln982Leu	rs775131364	missense variant	-	NC_000007.14:g.55200412A>T	ExAC,gnomAD
EGFR	P00533	p.Gln982Ter	COSM3923816	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.55200411C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Gly983Arg	COSM3412205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55201188G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Asp984Tyr	rs750582201	missense variant	-	NC_000007.14:g.55201191G>T	gnomAD
EGFR	P00533	p.Asp984Asn	rs750582201	missense variant	-	NC_000007.14:g.55201191G>A	gnomAD
EGFR	P00533	p.Arg986Lys	rs779583988	missense variant	-	NC_000007.14:g.55201198G>A	ExAC
EGFR	P00533	p.His988Arg	rs17290699	missense variant	-	NC_000007.14:g.55201204A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.His988Pro	RCV000120698	missense variant	-	NC_000007.14:g.55201204A>C	ClinVar
EGFR	P00533	p.His988Pro	rs17290699	missense variant	-	NC_000007.14:g.55201204A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro990Ser	rs781134348	missense variant	-	NC_000007.14:g.55201209C>T	ExAC,gnomAD
EGFR	P00533	p.Ser991Gly	rs748011710	missense variant	-	NC_000007.14:g.55201212A>G	ExAC,gnomAD
EGFR	P00533	p.Ser991Arg	rs748011710	missense variant	-	NC_000007.14:g.55201212A>C	ExAC,gnomAD
EGFR	P00533	p.AspSer994GlyAla	rs587778251	missense variant	-	NC_000007.14:g.55201222_55201224delinsGTG	-
EGFR	P00533	p.Asp994GlyAla	RCV000120697	missense variant	-	NC_000007.14:g.55201222_55201224delinsGTG	ClinVar
EGFR	P00533	p.Asn996Lys	rs771085105	missense variant	-	NC_000007.14:g.55201229C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asn996Ser	rs762795214	missense variant	-	NC_000007.14:g.55201228A>G	ExAC,gnomAD
EGFR	P00533	p.Phe997Val	COSM5415932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55201230T>G	NCI-TCGA Cosmic
EGFR	P00533	p.Tyr998Cys	rs1289194907	missense variant	-	NC_000007.14:g.55201234A>G	TOPMed
EGFR	P00533	p.Arg999His	rs149248025	missense variant	-	NC_000007.14:g.55201237G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg999Leu	rs149248025	missense variant	-	NC_000007.14:g.55201237G>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg999Cys	rs866928399	missense variant	-	NC_000007.14:g.55201236C>T	gnomAD
EGFR	P00533	p.Arg999Leu	RCV000381625	missense variant	Lung cancer	NC_000007.14:g.55201237G>T	ClinVar
EGFR	P00533	p.Ala1000Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55201240C>T	NCI-TCGA
EGFR	P00533	p.Leu1001Pro	NCI-TCGA novel	insertion	-	NC_000007.14:g.55201244_55201245insCCT	NCI-TCGA
EGFR	P00533	p.Met1002Thr	rs1319486482	missense variant	-	NC_000007.14:g.55201246T>C	TOPMed
EGFR	P00533	p.Met1002Val	rs1225496600	missense variant	-	NC_000007.14:g.55201245A>G	gnomAD
EGFR	P00533	p.Asp1003Asn	rs1256257325	missense variant	-	NC_000007.14:g.55201248G>A	gnomAD
EGFR	P00533	p.Asp1006Ala	rs752859687	missense variant	-	NC_000007.14:g.55201258A>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp1006Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55201257G>A	NCI-TCGA
EGFR	P00533	p.Asp1008Glu	rs747143752	missense variant	-	NC_000007.14:g.55201265C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp1008Glu	rs747143752	missense variant	-	NC_000007.14:g.55201265C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp1008Gly	rs1487738928	missense variant	-	NC_000007.14:g.55201264A>G	gnomAD
EGFR	P00533	p.Asp1008Asn	rs1162232225	missense variant	-	NC_000007.14:g.55201263G>A	TOPMed
EGFR	P00533	p.Asp1009Asn	rs148019583	missense variant	-	NC_000007.14:g.55201266G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val1010Leu	rs757699239	missense variant	-	NC_000007.14:g.55201269G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val1010AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55201269_55201270insATAGATCAGAAGACTACAAAAATGAAGC	NCI-TCGA
EGFR	P00533	p.Val1010Met	rs757699239	missense variant	-	NC_000007.14:g.55201269G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val1011Leu	rs1226829354	missense variant	-	NC_000007.14:g.55201272G>C	TOPMed,gnomAD
EGFR	P00533	p.Val1011Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55201273T>A	NCI-TCGA
EGFR	P00533	p.Asp1012Glu	rs995022327	missense variant	-	NC_000007.14:g.55201277T>A	TOPMed
EGFR	P00533	p.Asp1012His	rs1420841957	missense variant	-	NC_000007.14:g.55201275G>C	gnomAD
EGFR	P00533	p.Ala1013Thr	rs779716935	missense variant	-	NC_000007.14:g.55201278G>A	ExAC,gnomAD
EGFR	P00533	p.Asp1014Asn	rs751192280	missense variant	-	NC_000007.14:g.55201281G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu1015Lys	rs1302295057	missense variant	-	NC_000007.14:g.55201284G>A	TOPMed,gnomAD
EGFR	P00533	p.Tyr1016Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.55201289C>A	NCI-TCGA
EGFR	P00533	p.Leu1017Phe	rs1345851089	missense variant	-	NC_000007.14:g.55201290C>T	gnomAD
EGFR	P00533	p.Ile1018Val	rs1362774341	missense variant	-	NC_000007.14:g.55201293A>G	TOPMed
EGFR	P00533	p.Pro1019Thr	RCV000786033	missense variant	Glioblastoma multiforme, somatic	NC_000007.14:g.55201296C>A	ClinVar
EGFR	P00533	p.Pro1019Leu	COSM747423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55201297C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Pro1019Gln	RCV000786032	missense variant	Glioblastoma multiforme, somatic	NC_000007.14:g.55201297C>A	ClinVar
EGFR	P00533	p.Gly1022Ser	rs1276184054	missense variant	-	NC_000007.14:g.55201305G>A	gnomAD
EGFR	P00533	p.Gly1022Asp	rs747726185	missense variant	-	NC_000007.14:g.55201306G>A	ExAC,gnomAD
EGFR	P00533	p.Ser1025Arg	rs777701385	missense variant	-	NC_000007.14:g.55201316C>G	ExAC,gnomAD
EGFR	P00533	p.Ser1025Cys	rs1275431248	missense variant	-	NC_000007.14:g.55201314A>T	gnomAD
EGFR	P00533	p.Thr1029Ala	rs1296356016	missense variant	-	NC_000007.14:g.55201326A>G	TOPMed
EGFR	P00533	p.Thr1029Lys	rs182857647	missense variant	-	NC_000007.14:g.55201327C>A	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr1029Met	rs182857647	missense variant	-	NC_000007.14:g.55201327C>T	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg1031Gly	rs1490923813	missense variant	-	NC_000007.14:g.55201332C>G	TOPMed,gnomAD
EGFR	P00533	p.Arg1031Trp	rs1490923813	missense variant	-	NC_000007.14:g.55201332C>T	TOPMed,gnomAD
EGFR	P00533	p.Arg1031Gln	rs570295933	missense variant	-	NC_000007.14:g.55201333G>A	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr1032Ala	rs775415330	missense variant	-	NC_000007.14:g.55201335A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Thr1032Ser	COSM1451618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55201335A>T	NCI-TCGA Cosmic
EGFR	P00533	p.Leu1034Ile	rs764626121	missense variant	-	NC_000007.14:g.55201341C>A	ExAC,gnomAD
EGFR	P00533	p.Leu1034Pro	rs34352568	missense variant	-	NC_000007.14:g.55201342T>C	ExAC,gnomAD
EGFR	P00533	p.Leu1034Arg	rs34352568	missense variant	-	NC_000007.14:g.55201342T>G	ExAC,gnomAD
EGFR	P00533	p.Leu1034Arg	rs34352568	missense variant	-	NC_000007.14:g.55201342T>G	UniProt,dbSNP
EGFR	P00533	p.Leu1034Arg	VAR_042095	missense variant	-	NC_000007.14:g.55201342T>G	UniProt
EGFR	P00533	p.Ser1037Thr	rs762218653	missense variant	-	NC_000007.14:g.55201350T>A	ExAC,gnomAD
EGFR	P00533	p.Ser1037Tyr	rs765496858	missense variant	-	NC_000007.14:g.55201351C>A	ExAC,gnomAD
EGFR	P00533	p.Thr1041Ala	rs1420042114	missense variant	-	NC_000007.14:g.55201741A>G	gnomAD
EGFR	P00533	p.Ser1042Asn	rs1161802556	missense variant	-	NC_000007.14:g.55201745G>A	gnomAD
EGFR	P00533	p.Asn1043Ser	rs375035197	missense variant	-	NC_000007.14:g.55201748A>G	ESP,ExAC,gnomAD
EGFR	P00533	p.Ser1045Pro	rs1364225726	missense variant	-	NC_000007.14:g.55201753T>C	gnomAD
EGFR	P00533	p.Thr1046Asn	rs773437153	missense variant	-	NC_000007.14:g.55201757C>A	ExAC,gnomAD
EGFR	P00533	p.Val1047Met	rs142442994	missense variant	-	NC_000007.14:g.55201759G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val1047Gly	rs1367552759	missense variant	-	NC_000007.14:g.55201760T>G	gnomAD
EGFR	P00533	p.Val1047Met	RCV000332908	missense variant	Lung cancer	NC_000007.14:g.55201759G>A	ClinVar
EGFR	P00533	p.Ala1048Val	rs78244461	missense variant	-	NC_000007.14:g.55201763C>T	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala1048Pro	rs1186558284	missense variant	-	NC_000007.14:g.55201762G>C	TOPMed
EGFR	P00533	p.Ile1050Phe	rs1462369239	missense variant	-	NC_000007.14:g.55201768A>T	gnomAD
EGFR	P00533	p.Ile1050Ser	rs529174941	missense variant	-	NC_000007.14:g.55201769T>G	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Ile1050Thr	rs529174941	missense variant	-	NC_000007.14:g.55201769T>C	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Asp1051Ala	rs755574890	missense variant	-	NC_000007.14:g.55201772A>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp1051Gly	rs755574890	missense variant	-	NC_000007.14:g.55201772A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp1051Asn	COSM3833029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55201771G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Arg1052Ile	COSM6178048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55201775G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Gln1056His	rs758314765	missense variant	-	NC_000007.14:g.55202522A>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser1057Asn	rs751466686	missense variant	-	NC_000007.14:g.55202524G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Cys1058Ser	rs1321975678	missense variant	-	NC_000007.14:g.55202527G>C	gnomAD
EGFR	P00533	p.Pro1059Leu	rs1406092971	missense variant	-	NC_000007.14:g.55202530C>T	gnomAD
EGFR	P00533	p.Pro1059Ser	rs755238987	missense variant	-	NC_000007.14:g.55202529C>T	ExAC,gnomAD
EGFR	P00533	p.Lys1061Gln	rs748111724	missense variant	-	NC_000007.14:g.55202535A>C	ExAC,gnomAD
EGFR	P00533	p.Asp1063Gly	rs1224584642	missense variant	-	NC_000007.14:g.55202542A>G	TOPMed,gnomAD
EGFR	P00533	p.Ser1064Ile	rs1339648899	missense variant	-	NC_000007.14:g.55202545G>T	gnomAD
EGFR	P00533	p.Ser1064Gly	rs1250448734	missense variant	-	NC_000007.14:g.55202544A>G	gnomAD
EGFR	P00533	p.Phe1065Ile	rs769949680	missense variant	-	NC_000007.14:g.55202547T>A	ExAC,gnomAD
EGFR	P00533	p.Gln1067Lys	rs778095401	missense variant	-	NC_000007.14:g.55202553C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg1068Gln	rs374501041	missense variant	-	NC_000007.14:g.55202557G>A	ESP,gnomAD
EGFR	P00533	p.Arg1068Ter	rs749783044	stop gained	-	NC_000007.14:g.55202556C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg1068Pro	rs374501041	missense variant	-	NC_000007.14:g.55202557G>C	ESP,gnomAD
EGFR	P00533	p.Ser1070Thr	rs771471723	missense variant	-	NC_000007.14:g.55202563G>C	ExAC,gnomAD
EGFR	P00533	p.Ser1070Asn	rs771471723	missense variant	-	NC_000007.14:g.55202563G>A	ExAC,gnomAD
EGFR	P00533	p.Asp1072Gly	rs887824842	missense variant	-	NC_000007.14:g.55202569A>G	TOPMed,gnomAD
EGFR	P00533	p.Pro1073Thr	rs768226783	missense variant	-	NC_000007.14:g.55202571C>A	ExAC,gnomAD
EGFR	P00533	p.Gly1075Asp	rs1161834426	missense variant	-	NC_000007.14:g.55202578G>A	gnomAD
EGFR	P00533	p.Gly1075Ser	rs776375114	missense variant	-	NC_000007.14:g.55202577G>A	ExAC,gnomAD
EGFR	P00533	p.Ala1076Val	rs755868272	missense variant	-	NC_000007.14:g.55202581C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala1076Pro	rs764780987	missense variant	-	NC_000007.14:g.55202580G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala1076Thr	rs764780987	missense variant	-	NC_000007.14:g.55202580G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Leu1077Ser	rs1164785061	missense variant	-	NC_000007.14:g.55202584T>C	gnomAD
EGFR	P00533	p.Thr1078Ser	rs751342391	missense variant	-	NC_000007.14:g.55202586A>T	ExAC,gnomAD
EGFR	P00533	p.Thr1078Ala	rs751342391	missense variant	-	NC_000007.14:g.55202586A>G	ExAC,gnomAD
EGFR	P00533	p.Glu1079Asp	rs184614596	missense variant	-	NC_000007.14:g.55202591G>C	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Glu1079Lys	COSM3778506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55202589G>A	NCI-TCGA Cosmic
EGFR	P00533	p.Asp1080Asn	rs1023185448	missense variant	-	NC_000007.14:g.55202592G>A	TOPMed,gnomAD
EGFR	P00533	p.Ile1082Leu	rs371229748	missense variant	-	NC_000007.14:g.55202598A>T	ESP,ExAC,gnomAD
EGFR	P00533	p.Ile1082Val	rs371229748	missense variant	-	NC_000007.14:g.55202598A>G	ESP,ExAC,gnomAD
EGFR	P00533	p.Ile1082Arg	rs1051476261	missense variant	-	NC_000007.14:g.55202599T>G	TOPMed,gnomAD
EGFR	P00533	p.Asp1083GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.55202603C>-	NCI-TCGA
EGFR	P00533	p.Asp1083Glu	rs373990043	missense variant	-	NC_000007.14:g.55202603C>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp1084Asn	rs535060253	missense variant	-	NC_000007.14:g.55202604G>A	TOPMed,gnomAD
EGFR	P00533	p.Phe1086Ile	rs1032201502	missense variant	-	NC_000007.14:g.55202610T>A	TOPMed
EGFR	P00533	p.Leu1087Arg	rs749400221	missense variant	-	NC_000007.14:g.55202614T>G	ExAC,gnomAD
EGFR	P00533	p.Pro1088Leu	rs771418435	missense variant	-	NC_000007.14:g.55202617C>T	ExAC,gnomAD
EGFR	P00533	p.Pro1090Ser	rs367870311	missense variant	-	NC_000007.14:g.55202622C>T	ESP,TOPMed,gnomAD
EGFR	P00533	p.Glu1091Lys	rs1328333567	missense variant	-	NC_000007.14:g.55202625G>A	TOPMed,gnomAD
EGFR	P00533	p.Asn1094Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55205265A>G	NCI-TCGA
EGFR	P00533	p.Ser1096Phe	COSM1451619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55205271C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Val1097Ile	rs775345513	missense variant	-	NC_000007.14:g.55205273G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Val1097Leu	rs775345513	missense variant	-	NC_000007.14:g.55205273G>C	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Lys1099Thr	rs760404029	missense variant	-	NC_000007.14:g.55205280A>C	ExAC,gnomAD
EGFR	P00533	p.Pro1101Leu	rs764332519	missense variant	-	NC_000007.14:g.55205286C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro1101Arg	rs764332519	missense variant	-	NC_000007.14:g.55205286C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala1102Ser	rs1268506326	missense variant	-	NC_000007.14:g.55205288G>T	gnomAD
EGFR	P00533	p.Gly1103Asp	rs1370192881	missense variant	-	NC_000007.14:g.55205292G>A	TOPMed
EGFR	P00533	p.Gly1103Ser	rs139388758	missense variant	-	NC_000007.14:g.55205291G>A	ESP,ExAC,gnomAD
EGFR	P00533	p.Ser1104Pro	rs376598259	missense variant	-	NC_000007.14:g.55205294T>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gln1106Arg	rs780439043	missense variant	-	NC_000007.14:g.55205301A>G	ExAC,gnomAD
EGFR	P00533	p.Val1109Leu	rs1055315772	missense variant	-	NC_000007.14:g.55205309G>C	TOPMed,gnomAD
EGFR	P00533	p.Val1109Ile	rs1055315772	missense variant	-	NC_000007.14:g.55205309G>A	TOPMed,gnomAD
EGFR	P00533	p.Asn1112His	rs369498625	missense variant	-	NC_000007.14:g.55205318A>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asn1112Ser	rs755330584	missense variant	-	NC_000007.14:g.55205319A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asn1116Lys	rs1186762640	missense variant	-	NC_000007.14:g.55205332C>A	gnomAD
EGFR	P00533	p.Asn1116Asp	rs1485236403	missense variant	-	NC_000007.14:g.55205330A>G	gnomAD
EGFR	P00533	p.Pro1117Thr	rs777435609	missense variant	-	NC_000007.14:g.55205333C>A	ExAC,gnomAD
EGFR	P00533	p.Pro1117Ala	rs777435609	missense variant	-	NC_000007.14:g.55205333C>G	ExAC,gnomAD
EGFR	P00533	p.Pro1117His	rs1442620290	missense variant	-	NC_000007.14:g.55205334C>A	TOPMed,gnomAD
EGFR	P00533	p.Pro1117Arg	rs1442620290	missense variant	-	NC_000007.14:g.55205334C>G	TOPMed,gnomAD
EGFR	P00533	p.Ala1118Val	rs773996588	missense variant	-	NC_000007.14:g.55205337C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala1118Thr	rs770749711	missense variant	-	NC_000007.14:g.55205336G>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro1119Ser	rs868454218	missense variant	-	NC_000007.14:g.55205339C>T	TOPMed
EGFR	P00533	p.Pro1119Arg	rs902672760	missense variant	-	NC_000007.14:g.55205340C>G	TOPMed,gnomAD
EGFR	P00533	p.Pro1123Leu	rs775317295	missense variant	-	NC_000007.14:g.55205352C>T	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro1123Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55205351C>T	NCI-TCGA
EGFR	P00533	p.Ser1130Arg	rs1358829599	missense variant	-	NC_000007.14:g.55205374C>A	gnomAD
EGFR	P00533	p.Val1133Glu	rs776448547	missense variant	-	NC_000007.14:g.55205382T>A	ExAC,gnomAD
EGFR	P00533	p.Gly1134Asp	rs865825533	missense variant	-	NC_000007.14:g.55205385G>A	TOPMed,gnomAD
EGFR	P00533	p.Gly1134Ser	rs762016851	missense variant	-	NC_000007.14:g.55205384G>A	ExAC,gnomAD
EGFR	P00533	p.Gly1134Val	rs865825533	missense variant	-	NC_000007.14:g.55205385G>T	TOPMed,gnomAD
EGFR	P00533	p.Asn1135Lys	rs765499904	missense variant	-	NC_000007.14:g.55205389C>A	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Pro1136Leu	rs1445729019	missense variant	-	NC_000007.14:g.55205391C>T	gnomAD
EGFR	P00533	p.Glu1137Lys	rs780967013	missense variant	-	NC_000007.14:g.55205393G>A	ExAC,gnomAD
EGFR	P00533	p.Tyr1138Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55205397A>G	NCI-TCGA
EGFR	P00533	p.Leu1139Phe	rs1473630143	missense variant	-	NC_000007.14:g.55205399C>T	gnomAD
EGFR	P00533	p.Thr1141Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55205406C>G	NCI-TCGA
EGFR	P00533	p.Gln1143His	rs1403923057	missense variant	-	NC_000007.14:g.55205413G>T	gnomAD
EGFR	P00533	p.Gln1143Glu	rs145189325	missense variant	-	NC_000007.14:g.55205411C>G	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gln1143Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.55205411C>T	NCI-TCGA
EGFR	P00533	p.Thr1145Pro	rs1452191951	missense variant	-	NC_000007.14:g.55205417A>C	gnomAD
EGFR	P00533	p.Cys1146Tyr	rs1337590341	missense variant	-	NC_000007.14:g.55205421G>A	TOPMed,gnomAD
EGFR	P00533	p.Val1147Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55205424T>C	NCI-TCGA
EGFR	P00533	p.Asn1148Lys	rs778725594	missense variant	-	NC_000007.14:g.55205428C>G	ExAC,gnomAD
EGFR	P00533	p.Asn1148Ser	rs1476431328	missense variant	-	NC_000007.14:g.55205427A>G	gnomAD
EGFR	P00533	p.Thr1150Ile	rs745321541	missense variant	-	NC_000007.14:g.55205433C>T	ExAC,gnomAD
EGFR	P00533	p.Thr1150Ser	COSM4934357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55205432A>T	NCI-TCGA Cosmic
EGFR	P00533	p.Phe1151Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55205437C>A	NCI-TCGA
EGFR	P00533	p.Asp1152Asn	rs368892932	missense variant	-	NC_000007.14:g.55205438G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Asp1152His	rs368892932	missense variant	-	NC_000007.14:g.55205438G>C	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser1153Cys	rs1230715733	missense variant	-	NC_000007.14:g.55205441A>T	gnomAD
EGFR	P00533	p.Ser1153Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55205442G>A	NCI-TCGA
EGFR	P00533	p.His1156Tyr	rs1320747370	missense variant	-	NC_000007.14:g.55205450C>T	gnomAD
EGFR	P00533	p.His1156Pro	RCV000709022	missense variant	Hereditary cancer	NC_000007.14:g.55205451A>C	ClinVar
EGFR	P00533	p.His1156Pro	rs149174093	missense variant	-	NC_000007.14:g.55205451A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Trp1157Cys	rs761608448	missense variant	-	NC_000007.14:g.55205455G>C	ExAC,gnomAD
EGFR	P00533	p.Gln1159Ter	rs1433524783	stop gained	-	NC_000007.14:g.55205459C>T	TOPMed
EGFR	P00533	p.Gln1159Arg	rs1179392671	missense variant	-	NC_000007.14:g.55205460A>G	TOPMed,gnomAD
EGFR	P00533	p.Gly1161Asp	rs773454677	missense variant	-	NC_000007.14:g.55205466G>A	ExAC,gnomAD
EGFR	P00533	p.Ser1162Asn	rs41321844	missense variant	-	NC_000007.14:g.55205469G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser1162Arg	rs766347941	missense variant	-	NC_000007.14:g.55205470C>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ser1162Asn	RCV000120700	missense variant	-	NC_000007.14:g.55205469G>A	ClinVar
EGFR	P00533	p.Ser1162Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55205468A>T	NCI-TCGA
EGFR	P00533	p.His1163Tyr	rs1399981803	missense variant	-	NC_000007.14:g.55205471C>T	gnomAD
EGFR	P00533	p.His1163Gln	rs1318894874	missense variant	-	NC_000007.14:g.55205473C>A	gnomAD
EGFR	P00533	p.Gln1164Arg	COSM70574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55205475A>G	NCI-TCGA Cosmic
EGFR	P00533	p.Leu1167Val	rs1469310856	missense variant	-	NC_000007.14:g.55205483C>G	gnomAD
EGFR	P00533	p.Leu1167Met	COSM1090895	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55205483C>A	NCI-TCGA Cosmic
EGFR	P00533	p.Asn1169Ser	rs751701731	missense variant	-	NC_000007.14:g.55205490A>G	ExAC,gnomAD
EGFR	P00533	p.Pro1170Ala	rs1408630981	missense variant	-	NC_000007.14:g.55205492C>G	gnomAD
EGFR	P00533	p.Gln1173Arg	rs147896627	missense variant	-	NC_000007.14:g.55205502A>G	ESP,ExAC,gnomAD
EGFR	P00533	p.Gln1173Pro	rs147896627	missense variant	-	NC_000007.14:g.55205502A>C	ESP,ExAC,gnomAD
EGFR	P00533	p.Phe1177Leu	rs756556775	missense variant	-	NC_000007.14:g.55205515T>A	ExAC,gnomAD
EGFR	P00533	p.Phe1177Ser	rs556324078	missense variant	-	NC_000007.14:g.55205514T>C	1000Genomes,ExAC,TOPMed
EGFR	P00533	p.Pro1178Leu	COSM3639760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55205517C>T	NCI-TCGA Cosmic
EGFR	P00533	p.Lys1179Asn	rs1343156007	missense variant	-	NC_000007.14:g.55205521G>C	gnomAD
EGFR	P00533	p.Glu1180Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.55205522G>T	NCI-TCGA
EGFR	P00533	p.Ala1181Thr	rs778656021	missense variant	-	NC_000007.14:g.55205525G>A	ExAC,gnomAD
EGFR	P00533	p.Pro1183Ser	rs199661469	missense variant	-	NC_000007.14:g.55205531C>T	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Pro1183Thr	RCV000293175	missense variant	Lung cancer	NC_000007.14:g.55205531C>A	ClinVar
EGFR	P00533	p.Pro1183Thr	rs199661469	missense variant	-	NC_000007.14:g.55205531C>A	1000Genomes,ExAC,gnomAD
EGFR	P00533	p.Asn1184Ser	rs779422878	missense variant	-	NC_000007.14:g.55205535A>G	ExAC,TOPMed,gnomAD
EGFR	P00533	p.Gly1185Asp	rs746585833	missense variant	-	NC_000007.14:g.55205538G>A	ExAC,gnomAD
EGFR	P00533	p.Gly1185Ala	rs746585833	missense variant	-	NC_000007.14:g.55205538G>C	ExAC,gnomAD
EGFR	P00533	p.Gly1185Val	COSM1131542	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.55205538G>T	NCI-TCGA Cosmic
EGFR	P00533	p.Ile1186Val	rs1255635334	missense variant	-	NC_000007.14:g.55205540A>G	TOPMed
EGFR	P00533	p.Phe1187Cys	rs1272024430	missense variant	-	NC_000007.14:g.55205544T>G	gnomAD
EGFR	P00533	p.Gly1189Ala	rs747600559	missense variant	-	NC_000007.14:g.55205550G>C	ExAC,gnomAD
EGFR	P00533	p.Thr1191Ile	rs372948989	missense variant	-	NC_000007.14:g.55205556C>T	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala1192Val	rs1480173156	missense variant	-	NC_000007.14:g.55205559C>T	gnomAD
EGFR	P00533	p.Ala1192Thr	rs773041247	missense variant	-	NC_000007.14:g.55205558G>A	ExAC,gnomAD
EGFR	P00533	p.Ala1192Gly	rs1480173156	missense variant	-	NC_000007.14:g.55205559C>G	gnomAD
EGFR	P00533	p.Glu1193Lys	rs749441331	missense variant	-	NC_000007.14:g.55205561G>A	ExAC,gnomAD
EGFR	P00533	p.Ala1195Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.55205567G>A	NCI-TCGA
EGFR	P00533	p.Glu1196Lys	rs1379387764	missense variant	-	NC_000007.14:g.55205570G>A	gnomAD
EGFR	P00533	p.Tyr1197Ter	rs376541336	stop gained	-	NC_000007.14:g.55205575C>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Leu1198Val	rs142188270	missense variant	-	NC_000007.14:g.55205576C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Arg1199Thr	rs768074018	missense variant	-	NC_000007.14:g.55205580G>C	ExAC,gnomAD
EGFR	P00533	p.Ala1201Thr	rs369585356	missense variant	-	NC_000007.14:g.55205585G>A	ESP,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala1201Val	rs201717672	missense variant	-	NC_000007.14:g.55205586C>T	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Ala1201Glu	rs201717672	missense variant	-	NC_000007.14:g.55205586C>A	1000Genomes,ExAC,TOPMed,gnomAD
EGFR	P00533	p.Phe1207Cys	rs1301373415	missense variant	-	NC_000007.14:g.55205604T>G	gnomAD
EGFR	P00533	p.Ala1210Val	rs35918369	missense variant	-	NC_000007.14:g.55205613C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Gly3Glu	rs769289753	missense variant	-	NC_000001.11:g.204166286C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Trp4GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.204166284A>-	NCI-TCGA
REN	P00797	p.Arg5Gly	rs775844948	missense variant	-	NC_000001.11:g.204166281T>C	ExAC,gnomAD
REN	P00797	p.Arg6Lys	rs753328645	missense variant	-	NC_000001.11:g.204166277C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Arg6Ser	rs1392033638	missense variant	-	NC_000001.11:g.204166276C>A	gnomAD
REN	P00797	p.Met7Leu	rs746180535	missense variant	-	NC_000001.11:g.204166275T>G	ExAC,gnomAD
REN	P00797	p.Pro8Ala	RCV000375769	missense variant	Renal dysplasia (RTD)	NC_000001.11:g.204166272G>C	ClinVar
REN	P00797	p.Pro8Ala	rs61746500	missense variant	-	NC_000001.11:g.204166272G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Pro8Ala	RCV000318852	missense variant	Familial juvenile hyperuricemic nephropathy	NC_000001.11:g.204166272G>C	ClinVar
REN	P00797	p.Arg9Leu	rs777899883	missense variant	-	NC_000001.11:g.204166268C>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Arg9His	rs777899883	missense variant	-	NC_000001.11:g.204166268C>T	NCI-TCGA,NCI-TCGA Cosmic
REN	P00797	p.Arg9Cys	rs115181548	missense variant	-	NC_000001.11:g.204166269G>A	NCI-TCGA,NCI-TCGA Cosmic
REN	P00797	p.Arg9Ser	rs115181548	missense variant	-	NC_000001.11:g.204166269G>T	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Arg9Cys	rs115181548	missense variant	-	NC_000001.11:g.204166269G>A	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Arg9His	rs777899883	missense variant	-	NC_000001.11:g.204166268C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Trp10Ter	rs1167571128	stop gained	-	NC_000001.11:g.204166265C>T	TOPMed,gnomAD
REN	P00797	p.Trp10Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.204166264C>T	NCI-TCGA
REN	P00797	p.Gly11Arg	COSM4542533	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204166263C>T	NCI-TCGA Cosmic
REN	P00797	p.Leu12Met	rs1456036182	missense variant	-	NC_000001.11:g.204166260G>T	gnomAD
REN	P00797	p.Leu15Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204166250A>G	NCI-TCGA
REN	P00797	p.Leu16His	RCV000505648	missense variant	Hyperuricemic nephropathy, familial juvenile, 2 (HNFJ2)	NC_000001.11:g.204166247A>T	ClinVar
REN	P00797	p.Leu16Arg	RCV000014006	missense variant	Hyperuricemic nephropathy, familial juvenile, 2 (HNFJ2)	NC_000001.11:g.204166247A>C	ClinVar
REN	P00797	p.Leu16Arg	rs121917743	missense variant	Hyperuricemic nephropathy, familial juvenile, 2 (hnfj2)	NC_000001.11:g.204166247A>C	-
REN	P00797	p.Leu16Arg	rs121917743	missense variant	Familial juvenile hyperuricemic nephropathy 2 (HNFJ2)	NC_000001.11:g.204166247A>C	UniProt,dbSNP
REN	P00797	p.Leu16Arg	VAR_063770	missense variant	Familial juvenile hyperuricemic nephropathy 2 (HNFJ2)	NC_000001.11:g.204166247A>C	UniProt
REN	P00797	p.Leu16His	rs121917743	missense variant	Hyperuricemic nephropathy, familial juvenile, 2 (hnfj2)	NC_000001.11:g.204166247A>T	-
REN	P00797	p.Thr21Ile	rs1420333399	missense variant	-	NC_000001.11:g.204166232G>A	TOPMed,gnomAD
REN	P00797	p.Thr21Asn	rs1420333399	missense variant	-	NC_000001.11:g.204166232G>T	TOPMed,gnomAD
REN	P00797	p.Leu24Phe	rs866965047	missense variant	-	NC_000001.11:g.204166224G>A	gnomAD
REN	P00797	p.Pro25Leu	rs761487063	missense variant	-	NC_000001.11:g.204166220G>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Thr28Asn	rs763754855	missense variant	-	NC_000001.11:g.204166211G>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Thr29Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204166209T>C	NCI-TCGA
REN	P00797	p.Thr29Asn	rs368813719	missense variant	-	NC_000001.11:g.204166208G>T	ESP,ExAC,gnomAD
REN	P00797	p.Phe31Leu	rs1203318715	missense variant	-	NC_000001.11:g.204166203A>G	gnomAD
REN	P00797	p.Lys32Thr	rs543353436	missense variant	-	NC_000001.11:g.204166199T>G	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Arg33Trp	rs11571098	missense variant	-	NC_000001.11:g.204166197G>A	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Arg33Gln	rs375880823	missense variant	-	NC_000001.11:g.204166196C>T	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Met39Lys	RCV000681790	missense variant	-	NC_000001.11:g.204162146A>T	ClinVar
REN	P00797	p.Pro40Ser	rs1436346379	missense variant	-	NC_000001.11:g.204162144G>A	TOPMed
REN	P00797	p.Ser41Ter	rs1211945323	stop gained	-	NC_000001.11:g.204162140G>C	TOPMed
REN	P00797	p.Arg43Ter	rs397514690	stop gained	-	NC_000001.11:g.204162135G>A	NCI-TCGA
REN	P00797	p.Arg43Ter	rs397514690	stop gained	-	NC_000001.11:g.204162135G>A	TOPMed,gnomAD
REN	P00797	p.Arg43Ter	RCV000043472	nonsense	Renal dysplasia (RTD)	NC_000001.11:g.204162135G>A	ClinVar
REN	P00797	p.Arg43Gln	COSM2214138	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204162134C>T	NCI-TCGA Cosmic
REN	P00797	p.Arg43Pro	COSM4833961	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204162134C>G	NCI-TCGA Cosmic
REN	P00797	p.Glu48Asp	rs748270341	missense variant	-	NC_000001.11:g.204162118T>A	ExAC,gnomAD
REN	P00797	p.Arg49Ter	RCV000014003	nonsense	Renal dysplasia (RTD)	NC_000001.11:g.204162117G>A	ClinVar
REN	P00797	p.Arg49Ter	rs121917741	stop gained	-	NC_000001.11:g.204162117G>A	NCI-TCGA
REN	P00797	p.Arg49Gln	rs768773475	missense variant	-	NC_000001.11:g.204162116C>T	ExAC,gnomAD
REN	P00797	p.Arg49Ter	rs121917741	stop gained	-	NC_000001.11:g.204162117G>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Asp52His	rs745849711	missense variant	-	NC_000001.11:g.204162108C>G	ExAC,gnomAD
REN	P00797	p.Met53Thr	rs1194228285	missense variant	-	NC_000001.11:g.204162104A>G	gnomAD
REN	P00797	p.Arg55Ser	rs367565954	missense variant	-	NC_000001.11:g.204162097C>A	ESP,ExAC,gnomAD
REN	P00797	p.Arg55Thr	rs756019722	missense variant	-	NC_000001.11:g.204162098C>G	TOPMed
REN	P00797	p.Arg55Ser	rs367565954	missense variant	-	NC_000001.11:g.204162097C>G	ESP,ExAC,gnomAD
REN	P00797	p.Gly57Asp	rs1353997293	missense variant	-	NC_000001.11:g.204162092C>T	gnomAD
REN	P00797	p.Gly57Ser	rs777584055	missense variant	-	NC_000001.11:g.204162093C>T	ExAC,gnomAD
REN	P00797	p.Glu59Lys	rs752391620	missense variant	-	NC_000001.11:g.204162087C>T	ExAC,gnomAD
REN	P00797	p.Trp60Arg	rs764714841	missense variant	-	NC_000001.11:g.204162084A>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Trp60Gly	rs764714841	missense variant	-	NC_000001.11:g.204162084A>C	ExAC,TOPMed,gnomAD
REN	P00797	p.Met64Val	rs1045353423	missense variant	-	NC_000001.11:g.204162072T>C	TOPMed
REN	P00797	p.Met64Leu	rs1045353423	missense variant	-	NC_000001.11:g.204162072T>A	TOPMed
REN	P00797	p.Arg66Met	rs754493054	missense variant	-	NC_000001.11:g.204162065C>A	ExAC,gnomAD
REN	P00797	p.Thr68Ile	rs920051455	missense variant	-	NC_000001.11:g.204162059G>A	gnomAD
REN	P00797	p.Gly70Asp	rs773505649	missense variant	-	NC_000001.11:g.204162053C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Asn71Asp	rs767727275	missense variant	-	NC_000001.11:g.204162051T>C	ExAC,TOPMed,gnomAD
REN	P00797	p.Thr72Asn	rs557010306	missense variant	-	NC_000001.11:g.204162047G>T	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Thr73Asn	rs768667467	missense variant	-	NC_000001.11:g.204162044G>T	ExAC,gnomAD
REN	P00797	p.Ser74Phe	rs536696119	missense variant	-	NC_000001.11:g.204162041G>A	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Ser74Tyr	rs536696119	missense variant	-	NC_000001.11:g.204162041G>T	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Val76Met	rs777778258	missense variant	-	NC_000001.11:g.204162036C>T	ExAC,gnomAD
REN	P00797	p.Ile77Ser	rs574100052	missense variant	-	NC_000001.11:g.204162032A>C	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Ile77Thr	rs574100052	missense variant	-	NC_000001.11:g.204162032A>G	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Ile77Met	rs141467355	missense variant	-	NC_000001.11:g.204162031G>C	ESP,TOPMed,gnomAD
REN	P00797	p.Leu78Ile	rs1459578412	missense variant	-	NC_000001.11:g.204162030G>T	NCI-TCGA
REN	P00797	p.Leu78Ile	rs1459578412	missense variant	-	NC_000001.11:g.204162030G>T	gnomAD
REN	P00797	p.Thr79Ser	rs778600672	missense variant	-	NC_000001.11:g.204162026G>C	ExAC,TOPMed,gnomAD
REN	P00797	p.Met82Lys	rs144219651	missense variant	-	NC_000001.11:g.204162017A>T	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Thr84Asn	rs370001090	missense variant	-	NC_000001.11:g.204161414G>T	1000Genomes,ESP,ExAC,gnomAD
REN	P00797	p.Gln85His	rs1301244321	missense variant	-	NC_000001.11:g.204161410C>G	gnomAD
REN	P00797	p.Tyr86Cys	rs763302196	missense variant	-	NC_000001.11:g.204161408T>C	ExAC,gnomAD
REN	P00797	p.Tyr87His	rs752956824	missense variant	-	NC_000001.11:g.204161406A>G	ExAC,gnomAD
REN	P00797	p.Glu89Asp	RCV000305365	missense variant	Renal dysplasia (RTD)	NC_000001.11:g.204161398C>A	ClinVar
REN	P00797	p.Glu89Asp	RCV000266537	missense variant	Familial juvenile hyperuricemic nephropathy	NC_000001.11:g.204161398C>A	ClinVar
REN	P00797	p.Glu89Asp	rs886045835	missense variant	-	NC_000001.11:g.204161398C>A	TOPMed,gnomAD
REN	P00797	p.Glu89Lys	rs201438857	missense variant	-	NC_000001.11:g.204161400C>T	1000Genomes,ExAC,gnomAD
REN	P00797	p.Ile90Thr	rs772001785	missense variant	-	NC_000001.11:g.204161396A>G	ExAC,gnomAD
REN	P00797	p.Gly91Asp	rs1435136049	missense variant	-	NC_000001.11:g.204161393C>T	gnomAD
REN	P00797	p.Gly93Ser	rs1475981961	missense variant	-	NC_000001.11:g.204161388C>T	TOPMed,gnomAD
REN	P00797	p.Pro95HisPheSerTerUnkUnk	COSM1338056	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.204161381G>-	NCI-TCGA Cosmic
REN	P00797	p.Thr98Ala	rs1363702826	missense variant	-	NC_000001.11:g.204161373T>C	gnomAD
REN	P00797	p.Val101Ile	rs748996008	missense variant	-	NC_000001.11:g.204161364C>T	ExAC,gnomAD
REN	P00797	p.Val102Ile	rs1280455872	missense variant	-	NC_000001.11:g.204161361C>T	NCI-TCGA Cosmic
REN	P00797	p.Val102Ile	rs1280455872	missense variant	-	NC_000001.11:g.204161361C>T	gnomAD
REN	P00797	p.Phe103Ser	rs1211712060	missense variant	-	NC_000001.11:g.204161357A>G	gnomAD
REN	P00797	p.Asp104Asn	rs868694193	missense variant	-	NC_000001.11:g.204161355C>T	gnomAD
REN	P00797	p.Gly106Cys	rs1294490587	missense variant	-	NC_000001.11:g.204161349C>A	gnomAD
REN	P00797	p.Ser107Leu	rs1409715151	missense variant	-	NC_000001.11:g.204161345G>A	NCI-TCGA Cosmic
REN	P00797	p.Ser107Leu	RCV000723164	missense variant	-	NC_000001.11:g.204161345G>A	ClinVar
REN	P00797	p.Ser107Leu	rs1409715151	missense variant	-	NC_000001.11:g.204161345G>A	gnomAD
REN	P00797	p.Ser108Ala	rs556759055	missense variant	-	NC_000001.11:g.204161343A>C	1000Genomes,ExAC,gnomAD
REN	P00797	p.Val112Ala	rs1221956054	missense variant	-	NC_000001.11:g.204161330A>G	TOPMed
REN	P00797	p.Pro113Ser	rs1474773230	missense variant	-	NC_000001.11:g.204161328G>A	gnomAD
REN	P00797	p.Arg119His	rs376156157	missense variant	-	NC_000001.11:g.204161309C>T	NCI-TCGA,NCI-TCGA Cosmic
REN	P00797	p.Arg119Cys	rs151265393	missense variant	-	NC_000001.11:g.204161310G>A	ESP,ExAC,gnomAD
REN	P00797	p.Arg119His	rs376156157	missense variant	-	NC_000001.11:g.204161309C>T	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Leu120Pro	rs1352971146	missense variant	-	NC_000001.11:g.204161306A>G	gnomAD
REN	P00797	p.Tyr121Cys	rs1410855329	missense variant	-	NC_000001.11:g.204161303T>C	gnomAD
REN	P00797	p.Tyr121His	rs1170054174	missense variant	-	NC_000001.11:g.204161304A>G	gnomAD
REN	P00797	p.Thr122Ala	rs778261055	missense variant	-	NC_000001.11:g.204161301T>C	ExAC,gnomAD
REN	P00797	p.Ala123Thr	rs1186374117	missense variant	-	NC_000001.11:g.204161298C>T	gnomAD
REN	P00797	p.Val125Ala	rs1440602112	missense variant	-	NC_000001.11:g.204160678A>G	gnomAD
REN	P00797	p.His127Arg	rs779295984	missense variant	-	NC_000001.11:g.204160672T>C	ExAC,gnomAD
REN	P00797	p.Leu129His	COSM3481954	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204160666A>T	NCI-TCGA Cosmic
REN	P00797	p.Asp131Asn	rs1422936644	missense variant	-	NC_000001.11:g.204160661C>T	NCI-TCGA Cosmic
REN	P00797	p.Asp131Asn	rs1422936644	missense variant	-	NC_000001.11:g.204160661C>T	TOPMed
REN	P00797	p.Asp131Glu	rs144089286	missense variant	-	NC_000001.11:g.204160659A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Ala132Pro	rs1159183586	missense variant	-	NC_000001.11:g.204160658C>G	gnomAD
REN	P00797	p.Ser133Leu	RCV000408106	missense variant	Familial juvenile hyperuricemic nephropathy	NC_000001.11:g.204160654G>A	ClinVar
REN	P00797	p.Ser133Leu	RCV000312491	missense variant	Renal dysplasia (RTD)	NC_000001.11:g.204160654G>A	ClinVar
REN	P00797	p.Ser133Leu	rs756122840	missense variant	-	NC_000001.11:g.204160654G>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Ser135Tyr	RCV000043473	missense variant	Renal dysplasia (RTD)	NC_000001.11:g.204160648G>T	ClinVar
REN	P00797	p.Ser135Tyr	rs397514691	missense variant	-	NC_000001.11:g.204160648G>T	-
REN	P00797	p.Ser136Pro	rs762758270	missense variant	-	NC_000001.11:g.204160646A>G	ExAC,gnomAD
REN	P00797	p.Lys139Ter	rs764873149	stop gained	-	NC_000001.11:g.204160637T>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Asn141Ser	rs776126542	missense variant	-	NC_000001.11:g.204160630T>C	ExAC,TOPMed,gnomAD
REN	P00797	p.Gly142Glu	COSM3481952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204160627C>T	NCI-TCGA Cosmic
REN	P00797	p.Gly142Arg	COSM1689657	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204160628C>T	NCI-TCGA Cosmic
REN	P00797	p.Thr143Arg	rs1356009355	missense variant	-	NC_000001.11:g.204160624G>C	gnomAD
REN	P00797	p.Glu144Ter	COSM1223533	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.204160622C>A	NCI-TCGA Cosmic
REN	P00797	p.Glu144Gln	rs770516061	missense variant	-	NC_000001.11:g.204160622C>G	ExAC,gnomAD
REN	P00797	p.Thr146Pro	rs746464358	missense variant	-	NC_000001.11:g.204160616T>G	ExAC,gnomAD
REN	P00797	p.Arg148His	rs371704012	missense variant	-	NC_000001.11:g.204160609C>T	NCI-TCGA
REN	P00797	p.Arg148Cys	rs191049685	missense variant	-	NC_000001.11:g.204160610G>A	NCI-TCGA,NCI-TCGA Cosmic
REN	P00797	p.Arg148His	rs371704012	missense variant	-	NC_000001.11:g.204160609C>T	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Arg148Cys	rs191049685	missense variant	-	NC_000001.11:g.204160610G>A	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Thr151Ala	COSM1320563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204160601T>C	NCI-TCGA Cosmic
REN	P00797	p.Thr151Ile	rs1229083474	missense variant	-	NC_000001.11:g.204160600G>A	TOPMed
REN	P00797	p.Val154Ile	rs1384871999	missense variant	-	NC_000001.11:g.204160592C>T	gnomAD
REN	P00797	p.Ser159Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204160576C>A	NCI-TCGA
REN	P00797	p.Gln160Arg	rs367805555	missense variant	-	NC_000001.11:g.204160573T>C	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Gln160His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204160572C>A	NCI-TCGA
REN	P00797	p.Asp161Gly	rs755377881	missense variant	-	NC_000001.11:g.204160570T>C	ExAC,gnomAD
REN	P00797	p.Ile162Thr	rs749571526	missense variant	-	NC_000001.11:g.204160567A>G	ExAC,gnomAD
REN	P00797	p.Thr164Asn	rs780104854	missense variant	-	NC_000001.11:g.204160561G>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Val165Met	rs1276829651	missense variant	-	NC_000001.11:g.204159595C>T	TOPMed
REN	P00797	p.Gly167Arg	rs1326333821	missense variant	-	NC_000001.11:g.204159589C>T	TOPMed
REN	P00797	p.Thr169Ala	rs1166573542	missense variant	-	NC_000001.11:g.204159583T>C	gnomAD
REN	P00797	p.Thr169Met	rs776576517	missense variant	-	NC_000001.11:g.204159582G>A	TOPMed,gnomAD
REN	P00797	p.Gln172Ter	rs139795475	stop gained	-	NC_000001.11:g.204159574G>A	ESP,TOPMed,gnomAD
REN	P00797	p.Gln172Glu	rs139795475	missense variant	-	NC_000001.11:g.204159574G>C	ESP,TOPMed,gnomAD
REN	P00797	p.Gly175Val	rs985476332	missense variant	-	NC_000001.11:g.204159564C>A	TOPMed,gnomAD
REN	P00797	p.Thr178Met	rs147436851	missense variant	-	NC_000001.11:g.204159555G>A	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Met180Thr	rs775027150	missense variant	-	NC_000001.11:g.204159549A>G	ExAC,gnomAD
REN	P00797	p.Ala182Val	COSM902565	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204159543G>A	NCI-TCGA Cosmic
REN	P00797	p.Ala182Thr	rs1457497079	missense variant	-	NC_000001.11:g.204159544C>T	TOPMed,gnomAD
REN	P00797	p.Pro184Leu	rs1239082918	missense variant	-	NC_000001.11:g.204159537G>A	gnomAD
REN	P00797	p.Met186Ile	rs775650368	missense variant	-	NC_000001.11:g.204159530C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Ala188Val	rs770190833	missense variant	-	NC_000001.11:g.204159525G>A	ExAC,gnomAD
REN	P00797	p.Ala188Thr	rs1273084088	missense variant	-	NC_000001.11:g.204159526C>T	gnomAD
REN	P00797	p.Glu189Asp	COSM1338054	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204159521C>A	NCI-TCGA Cosmic
REN	P00797	p.Glu189Lys	rs771032027	missense variant	-	NC_000001.11:g.204159523C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Val193Phe	rs1332995811	missense variant	-	NC_000001.11:g.204159511C>A	gnomAD
REN	P00797	p.Gly195Asp	rs778838428	missense variant	-	NC_000001.11:g.204159504C>T	ExAC,gnomAD
REN	P00797	p.Ile199Thr	rs754808366	missense variant	-	NC_000001.11:g.204159492A>G	ExAC,TOPMed,gnomAD
REN	P00797	p.Gln201Leu	COSM463791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204159486T>A	NCI-TCGA Cosmic
REN	P00797	p.Ala202Thr	rs138385183	missense variant	-	NC_000001.11:g.204159484C>T	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Ile203Thr	rs1415983248	missense variant	-	NC_000001.11:g.204159480A>G	gnomAD
REN	P00797	p.Gly204Cys	rs1301192173	missense variant	-	NC_000001.11:g.204159478C>A	TOPMed
REN	P00797	p.Arg205Lys	rs1156882578	missense variant	-	NC_000001.11:g.204159474C>T	gnomAD
REN	P00797	p.Val206Ile	rs750220974	missense variant	-	NC_000001.11:g.204159472C>T	ExAC,gnomAD
REN	P00797	p.Val206Gly	rs1381119367	missense variant	-	NC_000001.11:g.204159471A>C	TOPMed,gnomAD
REN	P00797	p.Val206Phe	rs750220974	missense variant	-	NC_000001.11:g.204159472C>A	ExAC,gnomAD
REN	P00797	p.Val206Asp	rs1381119367	missense variant	-	NC_000001.11:g.204159471A>T	TOPMed,gnomAD
REN	P00797	p.Thr207Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204159469T>C	NCI-TCGA
REN	P00797	p.Pro208Ser	rs544315427	missense variant	-	NC_000001.11:g.204159466G>A	NCI-TCGA
REN	P00797	p.Pro208Ser	rs544315427	missense variant	-	NC_000001.11:g.204159466G>A	1000Genomes,ExAC,gnomAD
REN	P00797	p.Asp211His	rs764665629	missense variant	-	NC_000001.11:g.204159457C>G	ExAC,TOPMed,gnomAD
REN	P00797	p.Asp211Asn	rs764665629	missense variant	-	NC_000001.11:g.204159457C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Asn212Ser	rs763435711	missense variant	-	NC_000001.11:g.204159453T>C	ExAC,TOPMed,gnomAD
REN	P00797	p.Asn212Ile	rs763435711	missense variant	-	NC_000001.11:g.204159453T>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Ile213Val	rs1022198711	missense variant	-	NC_000001.11:g.204159451T>C	TOPMed,gnomAD
REN	P00797	p.Ile214Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204159447A>C	NCI-TCGA
REN	P00797	p.Ile214Val	rs369647339	missense variant	-	NC_000001.11:g.204159448T>C	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Ser215Tyr	rs765560519	missense variant	-	NC_000001.11:g.204159444G>T	ExAC,gnomAD
REN	P00797	p.Gly217Arg	RCV000320838	missense variant	Renal dysplasia (RTD)	NC_000001.11:g.204159439C>T	ClinVar
REN	P00797	p.Gly217Arg	RCV000286923	missense variant	Familial juvenile hyperuricemic nephropathy	NC_000001.11:g.204159439C>T	ClinVar
REN	P00797	p.Gly217Arg	rs11571117	missense variant	-	NC_000001.11:g.204159439C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Gly217Arg	rs11571117	missense variant	-	NC_000001.11:g.204159439C>T	UniProt,dbSNP
REN	P00797	p.Gly217Arg	VAR_020376	missense variant	-	NC_000001.11:g.204159439C>T	UniProt
REN	P00797	p.Val218Met	rs776861775	missense variant	-	NC_000001.11:g.204159436C>T	ExAC,gnomAD
REN	P00797	p.Val218Leu	rs776861775	missense variant	-	NC_000001.11:g.204159436C>A	ExAC,gnomAD
REN	P00797	p.Glu221Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204159427C>G	NCI-TCGA
REN	P00797	p.Asp222Glu	rs773236366	missense variant	-	NC_000001.11:g.204159422G>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Val223Ile	rs1419147995	missense variant	-	NC_000001.11:g.204159421C>T	NCI-TCGA
REN	P00797	p.Val223Ile	rs1419147995	missense variant	-	NC_000001.11:g.204159421C>T	TOPMed,gnomAD
REN	P00797	p.Ser225Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204159414G>A	NCI-TCGA
REN	P00797	p.Ser225Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204159414G>T	NCI-TCGA
REN	P00797	p.Tyr227Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.204159407G>T	NCI-TCGA
REN	P00797	p.Asn229Asp	rs749227987	missense variant	-	NC_000001.11:g.204159403T>C	ExAC,gnomAD
REN	P00797	p.Asn229Lys	rs755890508	missense variant	-	NC_000001.11:g.204159401G>C	ExAC,TOPMed,gnomAD
REN	P00797	p.Asn229Tyr	rs749227987	missense variant	-	NC_000001.11:g.204159403T>A	ExAC,gnomAD
REN	P00797	p.Arg230Lys	RCV000014004	missense variant	Renal dysplasia (RTD)	NC_000001.11:g.204159399C>T	ClinVar
REN	P00797	p.Arg230Lys	rs121917742	missense variant	-	NC_000001.11:g.204159399C>T	ExAC,gnomAD
REN	P00797	p.Arg230Lys	rs121917742	missense variant	Renal tubular dysgenesis (RTD)	NC_000001.11:g.204159399C>T	UniProt,dbSNP
REN	P00797	p.Arg230Lys	VAR_035087	missense variant	Renal tubular dysgenesis (RTD)	NC_000001.11:g.204159399C>T	UniProt
REN	P00797	p.Asp231Val	rs755548418	missense variant	-	NC_000001.11:g.204157367T>A	ExAC,gnomAD
REN	P00797	p.Asp231Asn	rs759698625	missense variant	-	NC_000001.11:g.204157368C>T	TOPMed
REN	P00797	p.Glu233Ter	rs766783107	stop gained	-	NC_000001.11:g.204157362C>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Glu233Lys	rs766783107	missense variant	-	NC_000001.11:g.204157362C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Ser235Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204156791G>T	NCI-TCGA
REN	P00797	p.Ser235Phe	COSM3481943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204156791G>A	NCI-TCGA Cosmic
REN	P00797	p.Gln236Pro	rs140468858	missense variant	-	NC_000001.11:g.204156788T>G	ESP,ExAC,gnomAD
REN	P00797	p.Gln236His	rs751716365	missense variant	-	NC_000001.11:g.204156787T>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Gln236Ter	rs916130088	stop gained	-	NC_000001.11:g.204156789G>A	TOPMed,gnomAD
REN	P00797	p.Gln236Lys	rs916130088	missense variant	-	NC_000001.11:g.204156789G>T	TOPMed,gnomAD
REN	P00797	p.Ser237Leu	rs140771210	missense variant	-	NC_000001.11:g.204156785G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Ser237Ter	rs140771210	stop gained	-	NC_000001.11:g.204156785G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Gly239Ala	rs1308738937	missense variant	-	NC_000001.11:g.204156779C>G	gnomAD
REN	P00797	p.Gly240Arg	rs776733175	missense variant	-	NC_000001.11:g.204156777C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Val243Ala	rs1027055859	missense variant	-	NC_000001.11:g.204156767A>G	TOPMed,gnomAD
REN	P00797	p.Leu244Pro	rs1386629048	missense variant	-	NC_000001.11:g.204156764A>G	gnomAD
REN	P00797	p.Gly245Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204156761C>T	NCI-TCGA
REN	P00797	p.Ser247Arg	rs1295851016	missense variant	-	NC_000001.11:g.204156754G>T	TOPMed,gnomAD
REN	P00797	p.Asp248Glu	RCV000366015	missense variant	Familial juvenile hyperuricemic nephropathy	NC_000001.11:g.204156751G>T	ClinVar
REN	P00797	p.Asp248Asn	rs1417265415	missense variant	-	NC_000001.11:g.204156753C>T	gnomAD
REN	P00797	p.Asp248Glu	RCV000269070	missense variant	Renal dysplasia (RTD)	NC_000001.11:g.204156751G>T	ClinVar
REN	P00797	p.Asp248Glu	rs747881047	missense variant	-	NC_000001.11:g.204156751G>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Asp248Glu	rs747881047	missense variant	-	NC_000001.11:g.204156751G>C	ExAC,TOPMed,gnomAD
REN	P00797	p.Gln250Pro	rs1438634698	missense variant	-	NC_000001.11:g.204156746T>G	TOPMed
REN	P00797	p.Gln250His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204156745C>G	NCI-TCGA
REN	P00797	p.Tyr252His	rs778501632	missense variant	-	NC_000001.11:g.204156741A>G	ExAC,gnomAD
REN	P00797	p.Glu253Lys	rs267598319	missense variant	-	NC_000001.11:g.204156738C>T	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Gly254Glu	COSM3481942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204156734C>T	NCI-TCGA Cosmic
REN	P00797	p.Phe256Leu	rs780556396	missense variant	-	NC_000001.11:g.204156727G>T	ExAC,gnomAD
REN	P00797	p.His257Arg	rs756580059	missense variant	-	NC_000001.11:g.204156725T>C	ExAC,gnomAD
REN	P00797	p.His257Gln	rs750891717	missense variant	-	NC_000001.11:g.204156724G>C	ExAC,gnomAD
REN	P00797	p.Tyr258Ser	rs781664088	missense variant	-	NC_000001.11:g.204156722T>G	ExAC,gnomAD
REN	P00797	p.Tyr258Phe	rs781664088	missense variant	-	NC_000001.11:g.204156722T>A	ExAC,gnomAD
REN	P00797	p.Ile259Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204156720T>C	NCI-TCGA
REN	P00797	p.Leu261Phe	rs1476114991	missense variant	-	NC_000001.11:g.204156714G>A	TOPMed
REN	P00797	p.Leu261Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204156713A>G	NCI-TCGA
REN	P00797	p.Ile262Thr	rs757540389	missense variant	-	NC_000001.11:g.204156710A>G	ExAC
REN	P00797	p.Lys263Arg	rs751871530	missense variant	-	NC_000001.11:g.204156707T>C	ExAC,gnomAD
REN	P00797	p.Gly265Ser	rs1217546699	missense variant	-	NC_000001.11:g.204156702C>T	gnomAD
REN	P00797	p.Trp267Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.204156695C>T	NCI-TCGA
REN	P00797	p.Gln268Lys	rs1356116794	missense variant	-	NC_000001.11:g.204156693G>T	gnomAD
REN	P00797	p.Gln268His	rs1188646679	missense variant	-	NC_000001.11:g.204156691C>G	TOPMed
REN	P00797	p.Ile269Met	rs1254527179	missense variant	-	NC_000001.11:g.204156688A>C	gnomAD
REN	P00797	p.Met271Thr	rs758564400	missense variant	-	NC_000001.11:g.204156683A>G	ExAC,gnomAD
REN	P00797	p.Gly273Arg	RCV000274832	missense variant	Familial juvenile hyperuricemic nephropathy	NC_000001.11:g.204156678C>G	ClinVar
REN	P00797	p.Gly273Arg	RCV000327573	missense variant	Renal dysplasia (RTD)	NC_000001.11:g.204156678C>G	ClinVar
REN	P00797	p.Gly273Arg	rs752756662	missense variant	-	NC_000001.11:g.204156678C>G	ExAC,TOPMed,gnomAD
REN	P00797	p.Gly273Arg	rs752756662	missense variant	-	NC_000001.11:g.204156678C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Gly273Ala	rs1474446793	missense variant	-	NC_000001.11:g.204156677C>G	gnomAD
REN	P00797	p.Val274Leu	rs745330782	missense variant	-	NC_000001.11:g.204156318C>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Val274Met	rs745330782	missense variant	-	NC_000001.11:g.204156318C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Ser278Ter	COSM3803553	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.204156305G>T	NCI-TCGA Cosmic
REN	P00797	p.Ser279Thr	rs1221041856	missense variant	-	NC_000001.11:g.204156303A>T	gnomAD
REN	P00797	p.Thr280Ile	rs1263363751	missense variant	-	NC_000001.11:g.204156299G>A	TOPMed
REN	P00797	p.Leu281Phe	rs778337508	missense variant	-	NC_000001.11:g.204156295C>A	ExAC,gnomAD
REN	P00797	p.Leu282Phe	rs758810616	missense variant	-	NC_000001.11:g.204156294G>A	ExAC,gnomAD
REN	P00797	p.Glu284Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204156288C>T	NCI-TCGA
REN	P00797	p.Gly286Ser	rs755102880	missense variant	-	NC_000001.11:g.204156282C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Cys287Phe	COSM1338053	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204156278C>A	NCI-TCGA Cosmic
REN	P00797	p.Cys287Tyr	rs1400212560	missense variant	-	NC_000001.11:g.204156278C>T	TOPMed,gnomAD
REN	P00797	p.Ala289Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204156273C>T	NCI-TCGA
REN	P00797	p.Thr293Asn	rs375015351	missense variant	-	NC_000001.11:g.204156260G>T	ESP,TOPMed,gnomAD
REN	P00797	p.Thr293Ile	rs375015351	missense variant	-	NC_000001.11:g.204156260G>A	ESP,TOPMed,gnomAD
REN	P00797	p.Gly294Ser	COSM1264002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204156258C>T	NCI-TCGA Cosmic
REN	P00797	p.Gly294Asp	rs1162730926	missense variant	-	NC_000001.11:g.204156257C>T	gnomAD
REN	P00797	p.Ser301Pro	rs1387291672	missense variant	-	NC_000001.11:g.204156237A>G	gnomAD
REN	P00797	p.Ser301Phe	rs1177030641	missense variant	-	NC_000001.11:g.204156236G>A	gnomAD
REN	P00797	p.Thr302ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.204156234T>-	NCI-TCGA
REN	P00797	p.Thr302Ser	rs567503598	missense variant	-	NC_000001.11:g.204156233G>C	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Thr302Ile	rs567503598	missense variant	-	NC_000001.11:g.204156233G>A	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Ser304Phe	rs1207171046	missense variant	-	NC_000001.11:g.204156227G>A	gnomAD
REN	P00797	p.Ile305Thr	rs1450384138	missense variant	-	NC_000001.11:g.204156224A>G	gnomAD
REN	P00797	p.Leu308Ile	rs757255143	missense variant	-	NC_000001.11:g.204156216G>T	ExAC,gnomAD
REN	P00797	p.Met309Thr	rs1463746540	missense variant	-	NC_000001.11:g.204156212A>G	TOPMed
REN	P00797	p.Glu310Gly	rs1306579692	missense variant	-	NC_000001.11:g.204156209T>C	gnomAD
REN	P00797	p.Glu310Gln	rs763928168	missense variant	-	NC_000001.11:g.204156210C>G	ExAC,TOPMed,gnomAD
REN	P00797	p.Glu310Lys	rs763928168	missense variant	-	NC_000001.11:g.204156210C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Glu310Asp	rs1238980420	missense variant	-	NC_000001.11:g.204156208C>G	gnomAD
REN	P00797	p.Ala311Val	rs1377284248	missense variant	-	NC_000001.11:g.204156206G>A	gnomAD
REN	P00797	p.Lys315Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204156193C>A	NCI-TCGA
REN	P00797	p.Lys316Asn	rs1311159103	missense variant	-	NC_000001.11:g.204156190C>A	TOPMed,gnomAD
REN	P00797	p.Lys316Asn	rs1311159103	missense variant	-	NC_000001.11:g.204156190C>G	TOPMed,gnomAD
REN	P00797	p.Leu318Arg	rs752426689	missense variant	-	NC_000001.11:g.204156185A>C	ExAC,gnomAD
REN	P00797	p.Phe319Val	rs201922371	missense variant	-	NC_000001.11:g.204156183A>C	TOPMed,gnomAD
REN	P00797	p.Phe319Leu	rs201922371	missense variant	-	NC_000001.11:g.204156183A>G	TOPMed,gnomAD
REN	P00797	p.Asp320His	rs776071450	missense variant	-	NC_000001.11:g.204156180C>G	ExAC
REN	P00797	p.Tyr321Ter	rs780294356	stop gained	-	NC_000001.11:g.204155916A>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Tyr321Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.204155917_204155918insC	NCI-TCGA
REN	P00797	p.Val322Phe	rs1320434543	missense variant	-	NC_000001.11:g.204155915C>A	gnomAD
REN	P00797	p.Val323Met	rs745900131	missense variant	-	NC_000001.11:g.204155912C>T	ExAC,gnomAD
REN	P00797	p.Lys324Arg	rs777701286	missense variant	-	NC_000001.11:g.204155908T>C	ExAC,gnomAD
REN	P00797	p.Asn326Lys	rs144517174	missense variant	-	NC_000001.11:g.204155901G>T	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Asn326Asp	rs758396335	missense variant	-	NC_000001.11:g.204155903T>C	ExAC,gnomAD
REN	P00797	p.Glu327Lys	rs920158144	missense variant	-	NC_000001.11:g.204155900C>T	TOPMed,gnomAD
REN	P00797	p.Gly328Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204155897C>G	NCI-TCGA
REN	P00797	p.Thr330Ile	rs1358862852	missense variant	-	NC_000001.11:g.204155890G>A	gnomAD
REN	P00797	p.Asp333Asn	rs766077533	missense variant	-	NC_000001.11:g.204155882C>T	ExAC,gnomAD
REN	P00797	p.Ile334Val	rs1170619535	missense variant	-	NC_000001.11:g.204155879T>C	gnomAD
REN	P00797	p.His337Tyr	rs536704856	missense variant	-	NC_000001.11:g.204155870G>A	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Leu338Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204155866A>G	NCI-TCGA
REN	P00797	p.Gly339Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204155864C>T	NCI-TCGA
REN	P00797	p.Gly340Val	rs567667202	missense variant	-	NC_000001.11:g.204155860C>A	1000Genomes,ExAC,gnomAD
REN	P00797	p.Thr344Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204155849T>C	NCI-TCGA
REN	P00797	p.Thr344Met	rs547448871	missense variant	-	NC_000001.11:g.204155848G>A	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Leu345Phe	rs774903315	missense variant	-	NC_000001.11:g.204155846G>A	ExAC,gnomAD
REN	P00797	p.Ser347Arg	rs1257300615	missense variant	-	NC_000001.11:g.204155838G>T	TOPMed,gnomAD
REN	P00797	p.Ala348Thr	rs1412575410	missense variant	-	NC_000001.11:g.204155837C>T	TOPMed
REN	P00797	p.Ala348Val	rs1199197464	missense variant	-	NC_000001.11:g.204155836G>A	gnomAD
REN	P00797	p.Asp349Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204155833T>C	NCI-TCGA
REN	P00797	p.Tyr350CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.204155829_204155830AT>-	NCI-TCGA
REN	P00797	p.Phe352Ile	rs763339055	missense variant	-	NC_000001.11:g.204155825A>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Glu354Gly	rs146220838	missense variant	-	NC_000001.11:g.204155176T>C	ESP,gnomAD
REN	P00797	p.Tyr356Cys	rs1443433955	missense variant	-	NC_000001.11:g.204155170T>C	gnomAD
REN	P00797	p.Ser357Ile	COSM6124117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204155167C>A	NCI-TCGA Cosmic
REN	P00797	p.Ser358Ile	rs770946516	missense variant	-	NC_000001.11:g.204155164C>A	ExAC,gnomAD
REN	P00797	p.Lys359Ile	rs774166976	missense variant	-	NC_000001.11:g.204155161T>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Lys359Arg	rs774166976	missense variant	-	NC_000001.11:g.204155161T>C	ExAC,TOPMed,gnomAD
REN	P00797	p.Lys359Ile	RCV000296847	missense variant	Familial juvenile hyperuricemic nephropathy	NC_000001.11:g.204155161T>A	ClinVar
REN	P00797	p.Lys359Ile	RCV000402439	missense variant	Renal dysplasia (RTD)	NC_000001.11:g.204155161T>A	ClinVar
REN	P00797	p.Lys360Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204155158T>A	NCI-TCGA
REN	P00797	p.Leu361Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204155155A>T	NCI-TCGA
REN	P00797	p.Thr363Ile	rs1420701887	missense variant	-	NC_000001.11:g.204155149G>A	gnomAD
REN	P00797	p.Leu364Pro	rs768567227	missense variant	-	NC_000001.11:g.204155146A>G	ExAC,gnomAD
REN	P00797	p.Ala365Val	COSM3864174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204155143G>A	NCI-TCGA Cosmic
REN	P00797	p.Ile366Phe	rs1190577198	missense variant	-	NC_000001.11:g.204155141T>A	gnomAD
REN	P00797	p.Ala368Pro	rs760985112	missense variant	-	NC_000001.11:g.204155135C>G	ExAC,TOPMed,gnomAD
REN	P00797	p.Ala368Thr	rs760985112	missense variant	-	NC_000001.11:g.204155135C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Pro372Leu	rs780953687	missense variant	-	NC_000001.11:g.204155122G>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Pro373Leu	rs529829189	missense variant	-	NC_000001.11:g.204155119G>A	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Thr375Asn	rs368598464	missense variant	-	NC_000001.11:g.204155113G>T	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Gly376Arg	COSM902561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204155111C>T	NCI-TCGA Cosmic
REN	P00797	p.Pro377His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.204155107G>T	NCI-TCGA
REN	P00797	p.Ala380Thr	rs1342001156	missense variant	-	NC_000001.11:g.204155099C>T	TOPMed
REN	P00797	p.Ala383Thr	rs1304427544	missense variant	-	NC_000001.11:g.204155090C>T	gnomAD
REN	P00797	p.Thr384Ala	rs753179547	missense variant	-	NC_000001.11:g.204155087T>C	ExAC
REN	P00797	p.Thr384Asn	rs765628670	missense variant	-	NC_000001.11:g.204155086G>T	ExAC,gnomAD
REN	P00797	p.Phe385Ile	COSM4027218	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204155084A>T	NCI-TCGA Cosmic
REN	P00797	p.Ile386Val	rs1053589414	missense variant	-	NC_000001.11:g.204155081T>C	TOPMed
REN	P00797	p.Ile386Thr	rs759852484	missense variant	-	NC_000001.11:g.204155080A>G	ExAC,TOPMed,gnomAD
REN	P00797	p.Arg387Gln	rs371478505	missense variant	-	NC_000001.11:g.204155077C>T	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Arg387Ter	RCV000014002	nonsense	Hyperproreninemia, familial	NC_000001.11:g.204155078G>A	ClinVar
REN	P00797	p.Arg387Ter	rs121917740	stop gained	-	NC_000001.11:g.204155078G>A	-
REN	P00797	p.Tyr390His	rs376188623	missense variant	-	NC_000001.11:g.204155069A>G	ESP,TOPMed,gnomAD
REN	P00797	p.Thr391Pro	rs766563216	missense variant	-	NC_000001.11:g.204155066T>G	ExAC,gnomAD
REN	P00797	p.Thr391Ala	rs766563216	missense variant	-	NC_000001.11:g.204155066T>C	ExAC,gnomAD
REN	P00797	p.Arg395Trp	rs773404995	missense variant	-	NC_000001.11:g.204155054G>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Arg395Leu	rs772034401	missense variant	-	NC_000001.11:g.204155053C>A	ExAC,gnomAD
REN	P00797	p.Arg396His	rs769746703	missense variant	-	NC_000001.11:g.204155050C>T	ExAC,TOPMed,gnomAD
REN	P00797	p.Arg396Cys	rs763037834	missense variant	-	NC_000001.11:g.204155051G>A	ExAC,gnomAD
REN	P00797	p.Arg396Pro	rs769746703	missense variant	-	NC_000001.11:g.204155050C>G	ExAC,TOPMed,gnomAD
REN	P00797	p.Asn398Asp	rs745611329	missense variant	-	NC_000001.11:g.204155045T>C	ExAC,gnomAD
REN	P00797	p.Arg399His	rs145852603	missense variant	-	NC_000001.11:g.204155041C>T	ESP,ExAC,TOPMed,gnomAD
REN	P00797	p.Arg399Cys	rs780723377	missense variant	-	NC_000001.11:g.204155042G>A	ExAC,TOPMed,gnomAD
REN	P00797	p.Ala403Thr	rs6704321	missense variant	-	NC_000001.11:g.204155030C>T	TOPMed,gnomAD
REN	P00797	p.Ala403Pro	rs6704321	missense variant	-	NC_000001.11:g.204155030C>G	TOPMed,gnomAD
REN	P00797	p.Ala405Thr	COSM1295733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.204155024C>T	NCI-TCGA Cosmic
REN	P00797	p.Arg406Cys	rs547414447	missense variant	-	NC_000001.11:g.204155021G>A	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Arg406His	rs527291298	missense variant	-	NC_000001.11:g.204155020C>T	1000Genomes,ExAC,TOPMed,gnomAD
REN	P00797	p.Ter407Leu	rs200760827	stop lost	-	NC_000001.11:g.204155017C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Met1Ile	RCV000411464	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452231G>A	ClinVar
ASS1	P00966	p.Met1Val	RCV000665063	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452229A>G	ClinVar
ASS1	P00966	p.Ser2Thr	rs200379004	missense variant	-	NC_000009.12:g.130452232T>A	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Gly5Ala	rs201700775	missense variant	-	NC_000009.12:g.130452242G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly5Val	rs201700775	missense variant	-	NC_000009.12:g.130452242G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser6Ala	rs757913342	missense variant	-	NC_000009.12:g.130452244T>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser6Phe	COSM421933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130452245C>T	NCI-TCGA Cosmic
ASS1	P00966	p.Ser6Pro	rs757913342	missense variant	-	NC_000009.12:g.130452244T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val7Met	rs149938546	missense variant	-	NC_000009.12:g.130452247G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Leu9Val	rs144999474	missense variant	-	NC_000009.12:g.130452253C>G	ESP,ExAC
ASS1	P00966	p.Ser12Gly	rs1283372037	missense variant	-	NC_000009.12:g.130452262A>G	TOPMed
ASS1	P00966	p.Gly14Ser	rs121908636	missense variant	-	NC_000009.12:g.130452268G>A	ExAC,gnomAD
ASS1	P00966	p.Gly14Ser	rs121908636	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452268G>A	UniProt,dbSNP
ASS1	P00966	p.Gly14Ser	VAR_000681	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452268G>A	UniProt
ASS1	P00966	p.Gly14Ser	RCV000006696	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452268G>A	ClinVar
ASS1	P00966	p.Ser18Leu	RCV000006703	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452281C>T	ClinVar
ASS1	P00966	p.Ser18Leu	rs121908643	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452281C>T	UniProt,dbSNP
ASS1	P00966	p.Ser18Leu	VAR_000682	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452281C>T	UniProt
ASS1	P00966	p.Ser18Leu	rs121908643	missense variant	-	NC_000009.12:g.130452281C>T	ExAC,gnomAD
ASS1	P00966	p.Cys19Arg	VAR_015891	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val22Leu	rs762279472	missense variant	-	NC_000009.12:g.130452292G>T	NCI-TCGA,NCI-TCGA Cosmic
ASS1	P00966	p.Val22Leu	rs762279472	missense variant	-	NC_000009.12:g.130452292G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val22Gly	rs912037125	missense variant	-	NC_000009.12:g.130452293T>G	TOPMed,gnomAD
ASS1	P00966	p.Val22Met	rs762279472	missense variant	-	NC_000009.12:g.130452292G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val22Leu	rs762279472	missense variant	-	NC_000009.12:g.130452292G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Trp23Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130452296G>T	NCI-TCGA
ASS1	P00966	p.Trp23Ter	rs1175810875	stop gained	-	NC_000009.12:g.130452297G>A	TOPMed
ASS1	P00966	p.Glu26Lys	rs766668660	missense variant	-	NC_000009.12:g.130452304G>A	ExAC,gnomAD
ASS1	P00966	p.Glu26Lys	rs766668660	missense variant	-	NC_000009.12:g.130452304G>A	NCI-TCGA
ASS1	P00966	p.Gln27Lys	rs543339767	missense variant	-	NC_000009.12:g.130452307C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln27_Lys412del	VAR_078387	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr29Cys	rs1457270102	missense variant	-	NC_000009.12:g.130452314A>G	TOPMed,gnomAD
ASS1	P00966	p.Asp30Asn	rs758038108	missense variant	-	NC_000009.12:g.130452316G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp30Tyr	rs758038108	missense variant	-	NC_000009.12:g.130452316G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val31Ile	rs374444560	missense variant	-	NC_000009.12:g.130452319G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ile32Thr	rs1313069512	missense variant	-	NC_000009.12:g.130452323T>C	gnomAD
ASS1	P00966	p.Ile32Val	rs142221856	missense variant	-	NC_000009.12:g.130452322A>G	ESP,TOPMed
ASS1	P00966	p.Ala36Asp	rs1479796639	missense variant	-	NC_000009.12:g.130454306C>A	gnomAD
ASS1	P00966	p.Ala36Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130454306C>T	NCI-TCGA
ASS1	P00966	p.Asn37Ser	rs1412223944	missense variant	-	NC_000009.12:g.130454309A>G	TOPMed
ASS1	P00966	p.Ile38Val	rs1176198275	missense variant	-	NC_000009.12:g.130454311A>G	gnomAD
ASS1	P00966	p.Gln40His	rs751131164	missense variant	-	NC_000009.12:g.130454319G>C	ExAC
ASS1	P00966	p.Gln40Leu	VAR_058337	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Lys41Ter	RCV000633523	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454319del	ClinVar
ASS1	P00966	p.Glu42Lys	rs1460136199	missense variant	-	NC_000009.12:g.130454323G>A	gnomAD
ASS1	P00966	p.Asp43His	rs1167026676	missense variant	-	NC_000009.12:g.130454326G>C	gnomAD
ASS1	P00966	p.Glu45Lys	rs766880501	missense variant	-	NC_000009.12:g.130454332G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala47Val	rs1301161301	missense variant	-	NC_000009.12:g.130454339C>T	gnomAD
ASS1	P00966	p.Arg48Gly	rs374695792	missense variant	-	NC_000009.12:g.130454341A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala51Thr	rs142350255	missense variant	-	NC_000009.12:g.130454350G>A	ESP,ExAC,TOPMed
ASS1	P00966	p.Leu54Val	RCV000701082	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454359C>G	ClinVar
ASS1	P00966	p.Ala56Thr	rs773150312	missense variant	-	NC_000009.12:g.130454365G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys57Glu	rs779222693	missense variant	-	NC_000009.12:g.130454368A>G	ExAC,gnomAD
ASS1	P00966	p.Lys58ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.130454368A>-	NCI-TCGA
ASS1	P00966	p.Val59Met	rs1390986372	missense variant	-	NC_000009.12:g.130458401G>A	gnomAD
ASS1	P00966	p.Val59Ter	RCV000668829	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454372dup	ClinVar
ASS1	P00966	p.Phe60Cys	rs746316364	missense variant	-	NC_000009.12:g.130458405T>G	ExAC,gnomAD
ASS1	P00966	p.Phe60Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130458406C>A	NCI-TCGA
ASS1	P00966	p.Ile61Thr	rs769314825	missense variant	-	NC_000009.12:g.130458408T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ile61Val	rs1423131094	missense variant	-	NC_000009.12:g.130458407A>G	TOPMed
ASS1	P00966	p.Glu62Lys	rs1230404130	missense variant	-	NC_000009.12:g.130458410G>A	TOPMed,gnomAD
ASS1	P00966	p.Val64Phe	COSM487122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130458416G>T	NCI-TCGA Cosmic
ASS1	P00966	p.Val64Ile	RCV000669936	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458416G>A	ClinVar
ASS1	P00966	p.Val64Ile	rs556297791	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458416G>A	UniProt,dbSNP
ASS1	P00966	p.Val64Ile	VAR_078388	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458416G>A	UniProt
ASS1	P00966	p.Val64Ile	rs556297791	missense variant	-	NC_000009.12:g.130458416G>A	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Ser65Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130458420G>A	NCI-TCGA
ASS1	P00966	p.Glu67Lys	rs1257036291	missense variant	-	NC_000009.12:g.130458425G>A	TOPMed
ASS1	P00966	p.Val69Ala	rs771594651	missense variant	-	NC_000009.12:g.130458432T>C	ExAC,gnomAD
ASS1	P00966	p.Val69Ala	rs771594651	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458432T>C	UniProt,dbSNP
ASS1	P00966	p.Val69Ala	VAR_016013	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458432T>C	UniProt
ASS1	P00966	p.Phe72Leu	rs1554982824	missense variant	-	NC_000009.12:g.130458442C>G	-
ASS1	P00966	p.Phe72Leu	RCV000666531	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458442C>G	ClinVar
ASS1	P00966	p.Pro75Leu	rs760286858	missense variant	-	NC_000009.12:g.130458450C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala76Ter	RCV000411227	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458452del	ClinVar
ASS1	P00966	p.Ile77Phe	rs776718909	missense variant	-	NC_000009.12:g.130458455A>T	ExAC,gnomAD
ASS1	P00966	p.Ser79Pro	VAR_058338	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala81Thr	RCV000303779	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458467G>A	ClinVar
ASS1	P00966	p.Ala81Val	rs764329260	missense variant	-	NC_000009.12:g.130458468C>T	ExAC,gnomAD
ASS1	P00966	p.Ala81Thr	rs141640176	missense variant	-	NC_000009.12:g.130458467G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Leu82Pro	rs559043503	missense variant	-	NC_000009.12:g.130458471T>C	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr83His	rs753659761	missense variant	-	NC_000009.12:g.130458473T>C	ExAC,gnomAD
ASS1	P00966	p.Glu84Lys	rs1554982834	missense variant	-	NC_000009.12:g.130458476G>A	-
ASS1	P00966	p.Glu84Lys	RCV000533818	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458476G>A	ClinVar
ASS1	P00966	p.Asp85Tyr	COSM6182786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130458479G>T	NCI-TCGA Cosmic
ASS1	P00966	p.Arg86His	RCV000256238	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458483G>A	ClinVar
ASS1	P00966	p.Arg86His	rs575001023	missense variant	-	NC_000009.12:g.130458483G>A	ExAC,gnomAD
ASS1	P00966	p.Arg86Cys	RCV000006704	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458482C>T	ClinVar
ASS1	P00966	p.Arg86Cys	rs121908644	missense variant	-	NC_000009.12:g.130458482C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg86Cys	rs121908644	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458482C>T	UniProt,dbSNP
ASS1	P00966	p.Arg86Cys	VAR_000683	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458482C>T	UniProt
ASS1	P00966	p.Tyr87Phe	rs780509094	missense variant	-	NC_000009.12:g.130458486A>T	ExAC,gnomAD
ASS1	P00966	p.Leu88Ile	RCV000527150	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458488C>A	ClinVar
ASS1	P00966	p.Leu88Ile	rs895822620	missense variant	-	NC_000009.12:g.130458488C>A	TOPMed,gnomAD
ASS1	P00966	p.Leu88Phe	rs895822620	missense variant	-	NC_000009.12:g.130458488C>T	TOPMed,gnomAD
ASS1	P00966	p.Leu89Val	rs1277427690	missense variant	-	NC_000009.12:g.130458491C>G	gnomAD
ASS1	P00966	p.Gly90Asp	rs1422867920	missense variant	-	NC_000009.12:g.130458495G>A	TOPMed,gnomAD
ASS1	P00966	p.Thr91Pro	rs769018733	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458497A>C	UniProt,dbSNP
ASS1	P00966	p.Thr91Pro	VAR_078389	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458497A>C	UniProt
ASS1	P00966	p.Thr91Pro	rs769018733	missense variant	-	NC_000009.12:g.130458497A>C	ExAC,gnomAD
ASS1	P00966	p.Ser92Phe	rs773015306	missense variant	-	NC_000009.12:g.130458501C>T	ExAC,gnomAD
ASS1	P00966	p.Arg95Ser	VAR_015893	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Pro96His	VAR_058339	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Pro96Leu	VAR_078390	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Pro96Ser	VAR_015894	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Cys97Ter	RCV000670815	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458517C>A	ClinVar
ASS1	P00966	p.Cys97Ser	rs1230950318	missense variant	-	NC_000009.12:g.130458516G>C	gnomAD
ASS1	P00966	p.Cys97Ter	rs1554982847	stop gained	-	NC_000009.12:g.130458517C>A	-
ASS1	P00966	p.Cys97_Lys412del	VAR_078391	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile98Val	rs746597456	missense variant	-	NC_000009.12:g.130458518A>G	ExAC,gnomAD
ASS1	P00966	p.Ala99Thr	rs150466363	missense variant	-	NC_000009.12:g.130458521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg100His	RCV000669776	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458525G>A	ClinVar
ASS1	P00966	p.Arg100His	RCV000508525	missense variant	-	NC_000009.12:g.130458525G>A	ClinVar
ASS1	P00966	p.Arg100Cys	RCV000669448	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458524C>T	ClinVar
ASS1	P00966	p.Arg100His	rs138279074	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458525G>A	UniProt,dbSNP
ASS1	P00966	p.Arg100His	VAR_078393	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458525G>A	UniProt
ASS1	P00966	p.Arg100His	rs138279074	missense variant	-	NC_000009.12:g.130458525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg100Cys	rs370695114	missense variant	-	NC_000009.12:g.130458524C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg100Cys	rs370695114	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458524C>T	UniProt,dbSNP
ASS1	P00966	p.Arg100Cys	VAR_078392	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458524C>T	UniProt
ASS1	P00966	p.Gln102Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130458530C>G	NCI-TCGA
ASS1	P00966	p.Glu104Lys	COSM3654878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130458536G>A	NCI-TCGA Cosmic
ASS1	P00966	p.Ala106Thr	rs762677536	missense variant	-	NC_000009.12:g.130458542G>A	ExAC,gnomAD
ASS1	P00966	p.Ala106Gly	rs763817750	missense variant	-	NC_000009.12:g.130458543C>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln107Arg	rs149602848	missense variant	-	NC_000009.12:g.130458546A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln107Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.130458545C>T	NCI-TCGA
ASS1	P00966	p.Gln107Ter	RCV000695591	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458545del	ClinVar
ASS1	P00966	p.Arg108Trp	rs143405567	missense variant	-	NC_000009.12:g.130458548C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg108Leu	RCV000436562	missense variant	-	NC_000009.12:g.130458549G>T	ClinVar
ASS1	P00966	p.Arg108Gln	rs35269064	missense variant	-	NC_000009.12:g.130458549G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg108Leu	rs35269064	missense variant	-	NC_000009.12:g.130458549G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg108Leu	rs35269064	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458549G>T	UniProt,dbSNP
ASS1	P00966	p.Arg108Leu	VAR_016014	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458549G>T	UniProt
ASS1	P00966	p.Glu109Lys	rs371907747	missense variant	-	NC_000009.12:g.130458551G>A	ESP,ExAC,gnomAD
ASS1	P00966	p.Glu109Val	rs962458695	missense variant	-	NC_000009.12:g.130458552A>T	TOPMed
ASS1	P00966	p.Ala111Asp	VAR_078394	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr113Cys	rs146176455	missense variant	-	NC_000009.12:g.130458564A>G	ESP,ExAC,gnomAD
ASS1	P00966	p.Val114Met	rs779412497	missense variant	-	NC_000009.12:g.130458566G>A	ExAC,gnomAD
ASS1	P00966	p.Gly117Ser	rs770944877	missense variant	-	NC_000009.12:g.130458575G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly117Ser	rs770944877	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458575G>A	UniProt,dbSNP
ASS1	P00966	p.Gly117Ser	VAR_015895	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458575G>A	UniProt
ASS1	P00966	p.Gly117Ser	RCV000671967	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458575G>A	ClinVar
ASS1	P00966	p.Gly117Val	rs745404241	missense variant	-	NC_000009.12:g.130458576G>T	ExAC,gnomAD
ASS1	P00966	p.Gly117Cys	VAR_078395	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly117Asp	VAR_015896	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala118Thr	rs775305020	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458578G>A	UniProt,dbSNP
ASS1	P00966	p.Ala118Thr	VAR_000684	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458578G>A	UniProt
ASS1	P00966	p.Ala118Thr	rs775305020	missense variant	-	NC_000009.12:g.130458578G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr119Pro	rs794727696	missense variant	-	NC_000009.12:g.130458581A>C	-
ASS1	P00966	p.Thr119Pro	RCV000178706	missense variant	-	NC_000009.12:g.130458581A>C	ClinVar
ASS1	P00966	p.Thr119Ile	VAR_016015	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly122Glu	COSM4894240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130464112G>A	NCI-TCGA Cosmic
ASS1	P00966	p.Asn123Lys	rs761616623	missense variant	-	NC_000009.12:g.130464116C>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp124Asn	RCV000552381	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464117G>A	ClinVar
ASS1	P00966	p.Asp124Asn	rs936192871	missense variant	-	NC_000009.12:g.130464117G>A	gnomAD
ASS1	P00966	p.Gln125Arg	COSM3904777	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130464121A>G	NCI-TCGA Cosmic
ASS1	P00966	p.Arg127Leu	RCV000665366	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464127G>T	ClinVar
ASS1	P00966	p.Arg127Gln	RCV000761475	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464127G>A	ClinVar
ASS1	P00966	p.Arg127Leu	rs201623252	missense variant	-	NC_000009.12:g.130464127G>T	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Arg127Leu	rs201623252	missense variant	-	NC_000009.12:g.130464127G>T	UniProt,dbSNP
ASS1	P00966	p.Arg127Leu	VAR_078396	missense variant	-	NC_000009.12:g.130464127G>T	UniProt
ASS1	P00966	p.Arg127Trp	rs771794639	missense variant	-	NC_000009.12:g.130464126C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg127Gln	rs201623252	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130464127G>A	UniProt,dbSNP
ASS1	P00966	p.Arg127Gln	VAR_058341	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130464127G>A	UniProt
ASS1	P00966	p.Arg127Gln	rs201623252	missense variant	-	NC_000009.12:g.130464127G>A	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Arg127Trp	RCV000668864	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464126C>T	ClinVar
ASS1	P00966	p.Phe128Leu	rs1226547650	missense variant	-	NC_000009.12:g.130464131T>G	gnomAD
ASS1	P00966	p.Ser131Gly	rs1465454336	missense variant	-	NC_000009.12:g.130464138A>G	gnomAD
ASS1	P00966	p.Ala136Ser	rs776754303	missense variant	-	NC_000009.12:g.130464153G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala136Val	rs760164246	missense variant	-	NC_000009.12:g.130464154C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln138ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.130464153_130464154insC	NCI-TCGA
ASS1	P00966	p.Gln138ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.130464154C>-	NCI-TCGA
ASS1	P00966	p.Gln138Ter	RCV000409826	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464159C>T	ClinVar
ASS1	P00966	p.Gln138Ter	rs1057516339	stop gained	-	NC_000009.12:g.130464159C>T	-
ASS1	P00966	p.Gln138Ter	RCV000665132	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464159dup	ClinVar
ASS1	P00966	p.Gln138_Lys412del	VAR_078397	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile139Met	rs1401148533	missense variant	-	NC_000009.12:g.130464164A>G	TOPMed
ASS1	P00966	p.Val141Gly	rs1184442048	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466726T>G	UniProt,dbSNP
ASS1	P00966	p.Val141Gly	VAR_072792	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466726T>G	UniProt
ASS1	P00966	p.Val141Gly	rs1184442048	missense variant	-	NC_000009.12:g.130466726T>G	TOPMed
ASS1	P00966	p.Pro144Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130466735C>G	NCI-TCGA
ASS1	P00966	p.Pro144Ser	rs769831651	missense variant	-	NC_000009.12:g.130466734C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg146Lys	rs1015400282	missense variant	-	NC_000009.12:g.130466741G>A	-
ASS1	P00966	p.Met147Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130466744T>C	NCI-TCGA
ASS1	P00966	p.Pro148Ser	rs369389991	missense variant	-	NC_000009.12:g.130466746C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu149Lys	rs1251662364	missense variant	-	NC_000009.12:g.130466749G>A	TOPMed
ASS1	P00966	p.Phe150Ter	RCV000169436	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466754_130466755del	ClinVar
ASS1	P00966	p.Tyr151Ser	rs754486641	missense variant	-	NC_000009.12:g.130466756A>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg153Gln	RCV000364188	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466762G>A	ClinVar
ASS1	P00966	p.Arg153Trp	rs576636333	missense variant	-	NC_000009.12:g.130466761C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg153Leu	rs373239430	missense variant	-	NC_000009.12:g.130466762G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg153Gln	rs373239430	missense variant	-	NC_000009.12:g.130466762G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Phe154Ter	RCV000780873	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466764_130466771del	ClinVar
ASS1	P00966	p.Lys155Glu	rs746855701	missense variant	-	NC_000009.12:g.130466767A>G	ExAC,gnomAD
ASS1	P00966	p.Lys155Arg	rs960633659	missense variant	-	NC_000009.12:g.130466768A>G	TOPMed
ASS1	P00966	p.Arg157His	RCV000259104	missense variant	-	NC_000009.12:g.130466774G>A	ClinVar
ASS1	P00966	p.Arg157His	rs121908637	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466774G>A	UniProt,dbSNP
ASS1	P00966	p.Arg157His	VAR_000685	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466774G>A	UniProt
ASS1	P00966	p.Arg157Cys	rs770585183	missense variant	-	NC_000009.12:g.130466773C>T	ExAC,gnomAD
ASS1	P00966	p.Arg157Cys	rs770585183	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466773C>T	UniProt,dbSNP
ASS1	P00966	p.Arg157Cys	VAR_015897	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466773C>T	UniProt
ASS1	P00966	p.Arg157His	rs121908637	missense variant	-	NC_000009.12:g.130466774G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg157Ser	VAR_078398	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Asn158Ser	rs770066903	missense variant	-	NC_000009.12:g.130466777A>G	ExAC,gnomAD
ASS1	P00966	p.Asn158Asp	rs1199062770	missense variant	-	NC_000009.12:g.130466776A>G	gnomAD
ASS1	P00966	p.Asp159Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130466779G>A	NCI-TCGA
ASS1	P00966	p.Met161Leu	rs775699839	missense variant	-	NC_000009.12:g.130466785A>T	ExAC,gnomAD
ASS1	P00966	p.Tyr163Ter	rs377319610	stop gained	-	NC_000009.12:g.130466793C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr163Cys	rs1167697513	missense variant	-	NC_000009.12:g.130466792A>G	gnomAD
ASS1	P00966	p.Tyr163_Lys412del	VAR_078399	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala164Ser	rs201445618	missense variant	-	NC_000009.12:g.130466794G>T	TOPMed,gnomAD
ASS1	P00966	p.Ala164Thr	rs201445618	missense variant	-	NC_000009.12:g.130466794G>A	TOPMed,gnomAD
ASS1	P00966	p.Ala164Pro	VAR_078400	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.His167Arg	rs577627504	missense variant	-	NC_000009.12:g.130470838A>G	1000Genomes
ASS1	P00966	p.His167Tyr	rs978412155	missense variant	-	NC_000009.12:g.130470837C>T	TOPMed
ASS1	P00966	p.Gly168Arg	rs763449750	missense variant	-	NC_000009.12:g.130470840G>A	ExAC,gnomAD
ASS1	P00966	p.Gly168Arg	rs763449750	missense variant	-	NC_000009.12:g.130470840G>C	ExAC,gnomAD
ASS1	P00966	p.Pro172Leu	RCV000315185	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470853C>T	ClinVar
ASS1	P00966	p.Pro172Arg	rs372078387	missense variant	-	NC_000009.12:g.130470853C>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro172Leu	rs372078387	missense variant	-	NC_000009.12:g.130470853C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val173Leu	rs911748539	missense variant	-	NC_000009.12:g.130470855G>C	TOPMed,gnomAD
ASS1	P00966	p.Val173Ile	rs911748539	missense variant	-	NC_000009.12:g.130470855G>A	TOPMed,gnomAD
ASS1	P00966	p.Val173Phe	rs911748539	missense variant	-	NC_000009.12:g.130470855G>T	TOPMed,gnomAD
ASS1	P00966	p.Lys176Arg	rs755924197	missense variant	-	NC_000009.12:g.130470865A>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys176Glu	rs1207643091	missense variant	-	NC_000009.12:g.130470864A>G	gnomAD
ASS1	P00966	p.Asn177Ser	rs780436694	missense variant	-	NC_000009.12:g.130470868A>G	ExAC,gnomAD
ASS1	P00966	p.Pro178Leu	rs768846877	missense variant	-	NC_000009.12:g.130470871C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Trp179Arg	RCV000256312	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470873T>C	ClinVar
ASS1	P00966	p.Trp179Arg	RCV000291508	missense variant	-	NC_000009.12:g.130470873T>C	ClinVar
ASS1	P00966	p.Trp179Arg	RCV000006707	missense variant	Citrullinemia, mild	NC_000009.12:g.130470873T>C	ClinVar
ASS1	P00966	p.Trp179Arg	rs121908646	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470873T>C	UniProt,dbSNP
ASS1	P00966	p.Trp179Arg	VAR_015898	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470873T>C	UniProt
ASS1	P00966	p.Trp179Arg	rs121908646	missense variant	-	NC_000009.12:g.130470873T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Trp179Cys	rs1409764603	missense variant	-	NC_000009.12:g.130470875G>C	gnomAD
ASS1	P00966	p.Ser180Ile	RCV000529881	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470877G>T	ClinVar
ASS1	P00966	p.Ser180Ile	rs121908638	missense variant	-	NC_000009.12:g.130470877G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser180Asn	RCV000185782	missense variant	-	NC_000009.12:g.130470877G>A	ClinVar
ASS1	P00966	p.Ser180Ile	rs121908638	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>T	UniProt,dbSNP
ASS1	P00966	p.Ser180Ile	VAR_078401	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>T	UniProt
ASS1	P00966	p.Ser180Cys	rs1456790094	missense variant	-	NC_000009.12:g.130470876A>T	gnomAD
ASS1	P00966	p.Ser180Asn	rs121908638	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>A	UniProt,dbSNP
ASS1	P00966	p.Ser180Asn	VAR_000686	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>A	UniProt
ASS1	P00966	p.Ser180Asn	rs121908638	missense variant	-	NC_000009.12:g.130470877G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Met181Val	rs1391150004	missense variant	-	NC_000009.12:g.130470879A>G	TOPMed,gnomAD
ASS1	P00966	p.Asp182Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130470882G>A	NCI-TCGA
ASS1	P00966	p.Glu183Lys	rs773665483	missense variant	-	NC_000009.12:g.130470885G>A	ExAC
ASS1	P00966	p.Asn184Lys	rs368192467	missense variant	-	NC_000009.12:g.130470890C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asn184Lys	rs368192467	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470890C>A	UniProt,dbSNP
ASS1	P00966	p.Asn184Lys	VAR_078402	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470890C>A	UniProt
ASS1	P00966	p.Leu185His	rs775215941	missense variant	-	NC_000009.12:g.130470892T>A	ExAC
ASS1	P00966	p.Met186Ile	rs1380426442	missense variant	-	NC_000009.12:g.130470896G>A	gnomAD
ASS1	P00966	p.Met186Arg	RCV000779573	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470895T>G	ClinVar
ASS1	P00966	p.Ile188Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130470902C>G	NCI-TCGA
ASS1	P00966	p.Ile188Val	rs762510847	missense variant	-	NC_000009.12:g.130470900A>G	ExAC,gnomAD
ASS1	P00966	p.Tyr190His	rs752862441	missense variant	-	NC_000009.12:g.130471486T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr190Asp	VAR_058344	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Glu191Lys	rs777828000	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130471489G>A	UniProt,dbSNP
ASS1	P00966	p.Glu191Lys	VAR_015899	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130471489G>A	UniProt
ASS1	P00966	p.Glu191Lys	rs777828000	missense variant	-	NC_000009.12:g.130471489G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu191Lys	RCV000190357	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471489G>A	ClinVar
ASS1	P00966	p.Glu191Gln	VAR_058345	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala192Thr	rs568893606	missense variant	-	NC_000009.12:g.130471492G>A	1000Genomes
ASS1	P00966	p.Ala192Val	VAR_000687	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly193Arg	rs1311437424	missense variant	-	NC_000009.12:g.130471495G>A	TOPMed
ASS1	P00966	p.Gly193Arg	RCV000702722	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471495G>A	ClinVar
ASS1	P00966	p.Leu195Pro	RCV000824287	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471502T>C	ClinVar
ASS1	P00966	p.Leu195Pro	rs796051936	missense variant	-	NC_000009.12:g.130471502T>C	-
ASS1	P00966	p.Glu196Ala	rs1430947504	missense variant	-	NC_000009.12:g.130471505A>C	gnomAD
ASS1	P00966	p.Asn197Ser	rs1331462223	missense variant	-	NC_000009.12:g.130471508A>G	gnomAD
ASS1	P00966	p.Asn197Lys	rs1355715277	missense variant	-	NC_000009.12:g.130471509C>A	gnomAD
ASS1	P00966	p.Pro198Leu	rs781652117	missense variant	-	NC_000009.12:g.130471511C>T	ExAC,gnomAD
ASS1	P00966	p.Pro198Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130471510C>T	NCI-TCGA
ASS1	P00966	p.Lys199Arg	rs764078809	missense variant	-	NC_000009.12:g.130471514A>G	TOPMed,gnomAD
ASS1	P00966	p.Asn200Lys	rs750874679	missense variant	-	NC_000009.12:g.130476873C>A	ExAC,gnomAD
ASS1	P00966	p.Gln201Glu	rs563922134	missense variant	-	NC_000009.12:g.130476874C>G	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala202Glu	RCV000796571	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130476878C>A	ClinVar
ASS1	P00966	p.Ala202Glu	RCV000259040	missense variant	-	NC_000009.12:g.130476878C>A	ClinVar
ASS1	P00966	p.Ala202Glu	rs376371866	missense variant	-	NC_000009.12:g.130476878C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala202Val	rs376371866	missense variant	-	NC_000009.12:g.130476878C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro203Thr	rs147858743	missense variant	-	NC_000009.12:g.130476880C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro203Leu	rs1477093617	missense variant	-	NC_000009.12:g.130476881C>T	gnomAD
ASS1	P00966	p.Gly205Ser	rs746536193	missense variant	-	NC_000009.12:g.130476886G>A	ExAC,gnomAD
ASS1	P00966	p.Leu206Pro	VAR_058347	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Thr208Arg	rs776441071	missense variant	-	NC_000009.12:g.130476896C>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr208Met	rs776441071	missense variant	-	NC_000009.12:g.130476896C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr208Ala	rs62637575	missense variant	-	NC_000009.12:g.130476895A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys209Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130476900G>T	NCI-TCGA
ASS1	P00966	p.Pro213Gln	rs1486449199	missense variant	-	NC_000009.12:g.130476911C>A	TOPMed
ASS1	P00966	p.Pro213Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130476910C>G	NCI-TCGA
ASS1	P00966	p.Lys215Ile	rs1462611440	missense variant	-	NC_000009.12:g.130476917A>T	gnomAD
ASS1	P00966	p.Ala216Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130476919G>A	NCI-TCGA
ASS1	P00966	p.Ala216Ser	rs1156471881	missense variant	-	NC_000009.12:g.130476919G>T	gnomAD
ASS1	P00966	p.Ala216Asp	rs1043964127	missense variant	-	NC_000009.12:g.130476920C>A	gnomAD
ASS1	P00966	p.Thr219Ala	rs1280678606	missense variant	-	NC_000009.12:g.130476928A>G	TOPMed
ASS1	P00966	p.Thr219Asn	rs769538241	missense variant	-	NC_000009.12:g.130476929C>A	ExAC,gnomAD
ASS1	P00966	p.Leu223Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130476940C>G	NCI-TCGA
ASS1	P00966	p.Glu224Lys	rs764331417	missense variant	-	NC_000009.12:g.130476943G>A	ExAC,gnomAD
ASS1	P00966	p.Glu226Lys	rs761813681	missense variant	-	NC_000009.12:g.130476949G>A	ExAC,gnomAD
ASS1	P00966	p.Glu226Val	rs767628546	missense variant	-	NC_000009.12:g.130476950A>T	ExAC,gnomAD
ASS1	P00966	p.Gly230Ala	RCV000490502	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130479716G>C	ClinVar
ASS1	P00966	p.Gly230Ala	rs1085307056	missense variant	-	NC_000009.12:g.130479716G>C	TOPMed
ASS1	P00966	p.Gly230Arg	VAR_078403	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val231Ile	rs1397280585	missense variant	-	NC_000009.12:g.130479718G>A	TOPMed,gnomAD
ASS1	P00966	p.Val231Phe	rs1397280585	missense variant	-	NC_000009.12:g.130479718G>T	TOPMed,gnomAD
ASS1	P00966	p.Pro232Ser	rs1321789086	missense variant	-	NC_000009.12:g.130479721C>T	TOPMed,gnomAD
ASS1	P00966	p.Val235Ala	COSM3904780	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130479731T>C	NCI-TCGA Cosmic
ASS1	P00966	p.Thr236Ala	rs745415384	missense variant	-	NC_000009.12:g.130479733A>G	ExAC,gnomAD
ASS1	P00966	p.Asn237Ser	rs565520844	missense variant	-	NC_000009.12:g.130479737A>G	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asn237Ile	VAR_078404	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val238Ile	rs368414392	missense variant	-	NC_000009.12:g.130479739G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys239Asn	COSM289637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130479744G>T	NCI-TCGA Cosmic
ASS1	P00966	p.Asp240Asn	COSM3654883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130479745G>A	NCI-TCGA Cosmic
ASS1	P00966	p.Asp240His	rs1480656634	missense variant	-	NC_000009.12:g.130479745G>C	gnomAD
ASS1	P00966	p.Gly241Asp	COSM3904781	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130479749G>A	NCI-TCGA Cosmic
ASS1	P00966	p.Gly241Ser	rs1266978229	missense variant	-	NC_000009.12:g.130479748G>A	gnomAD
ASS1	P00966	p.Thr243Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130479755C>A	NCI-TCGA
ASS1	P00966	p.Leu248Phe	rs1447491328	missense variant	-	NC_000009.12:g.130479771G>T	TOPMed,gnomAD
ASS1	P00966	p.Glu249Gly	rs748358908	missense variant	-	NC_000009.12:g.130479773A>G	ExAC,gnomAD
ASS1	P00966	p.Leu250Phe	rs772369785	missense variant	-	NC_000009.12:g.130479775C>T	ExAC,gnomAD
ASS1	P00966	p.Phe251Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130479779T>C	NCI-TCGA
ASS1	P00966	p.Met252Thr	rs760818666	missense variant	-	NC_000009.12:g.130479782T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu256Lys	rs74923032	missense variant	-	NC_000009.12:g.130479793G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu256Lys	RCV000224618	missense variant	-	NC_000009.12:g.130479793G>A	ClinVar
ASS1	P00966	p.Ala258Val	RCV000669784	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130479800C>T	ClinVar
ASS1	P00966	p.Ala258Thr	rs765748014	missense variant	-	NC_000009.12:g.130479799G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala258Val	rs753078725	missense variant	-	NC_000009.12:g.130479800C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala258Val	rs753078725	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130479800C>T	UniProt,dbSNP
ASS1	P00966	p.Ala258Val	VAR_078406	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130479800C>T	UniProt
ASS1	P00966	p.Ala258Pro	VAR_078405	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly259Ser	COSM1701820	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130480386G>A	NCI-TCGA Cosmic
ASS1	P00966	p.Gly259Val	rs567807132	missense variant	-	NC_000009.12:g.130480387G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys260Arg	rs1193243645	missense variant	-	NC_000009.12:g.130480390A>G	TOPMed,gnomAD
ASS1	P00966	p.His261Arg	rs749349212	missense variant	-	NC_000009.12:g.130480393A>G	ExAC
ASS1	P00966	p.Gly262Ser	rs1254010338	missense variant	-	NC_000009.12:g.130480395G>A	gnomAD
ASS1	P00966	p.Val263Met	rs192838388	missense variant	-	NC_000009.12:g.130480398G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val263Met	RCV000185783	missense variant	-	NC_000009.12:g.130480398G>A	ClinVar
ASS1	P00966	p.Arg265Cys	rs148918985	missense variant	-	NC_000009.12:g.130480404C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg265Cys	rs148918985	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480404C>T	UniProt,dbSNP
ASS1	P00966	p.Arg265Cys	VAR_058349	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480404C>T	UniProt
ASS1	P00966	p.Arg265Cys	RCV000078025	missense variant	-	NC_000009.12:g.130480404C>T	ClinVar
ASS1	P00966	p.Arg265His	RCV000723811	missense variant	-	NC_000009.12:g.130480405G>A	ClinVar
ASS1	P00966	p.Arg265His	rs398123131	missense variant	-	NC_000009.12:g.130480405G>A	TOPMed,gnomAD
ASS1	P00966	p.Arg265His	rs398123131	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480405G>A	UniProt,dbSNP
ASS1	P00966	p.Arg265His	VAR_015900	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480405G>A	UniProt
ASS1	P00966	p.Ile266Val	rs377221825	missense variant	-	NC_000009.12:g.130480407A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp267Gly	rs1465173093	missense variant	-	NC_000009.12:g.130480411A>G	TOPMed
ASS1	P00966	p.Ile268Met	rs773540764	missense variant	-	NC_000009.12:g.130480415C>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ile268SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.130480413_130480414insG	NCI-TCGA
ASS1	P00966	p.Val269Met	RCV000412912	missense variant	-	NC_000009.12:g.130480416G>A	ClinVar
ASS1	P00966	p.Val269Met	RCV000174211	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480416G>A	ClinVar
ASS1	P00966	p.Val269Met	rs370595480	missense variant	-	NC_000009.12:g.130480416G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val269Met	rs370595480	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480416G>A	UniProt,dbSNP
ASS1	P00966	p.Val269Met	VAR_015901	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480416G>A	UniProt
ASS1	P00966	p.Glu270Gln	RCV000673280	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480419G>C	ClinVar
ASS1	P00966	p.Glu270Gln	rs775163147	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480419G>C	UniProt,dbSNP
ASS1	P00966	p.Glu270Gln	VAR_016007	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480419G>C	UniProt
ASS1	P00966	p.Glu270Gln	rs775163147	missense variant	-	NC_000009.12:g.130480419G>C	ExAC,gnomAD
ASS1	P00966	p.Arg272Cys	RCV000409266	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480425C>T	ClinVar
ASS1	P00966	p.Arg272Leu	rs768215008	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>T	UniProt,dbSNP
ASS1	P00966	p.Arg272Leu	VAR_078408	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>T	UniProt
ASS1	P00966	p.Arg272Leu	rs768215008	missense variant	-	NC_000009.12:g.130480426G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg272Cys	rs762387914	missense variant	-	NC_000009.12:g.130480425C>T	ExAC,gnomAD
ASS1	P00966	p.Arg272Cys	rs762387914	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480425C>T	UniProt,dbSNP
ASS1	P00966	p.Arg272Cys	VAR_000688	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480425C>T	UniProt
ASS1	P00966	p.Arg272His	rs768215008	missense variant	-	NC_000009.12:g.130480426G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg272His	rs768215008	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>A	UniProt,dbSNP
ASS1	P00966	p.Arg272His	VAR_078407	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>A	UniProt
ASS1	P00966	p.Gly275Glu	COSM3654885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130480435G>A	NCI-TCGA Cosmic
ASS1	P00966	p.Gly275Ter	rs1554723625	stop gained	-	NC_000009.12:g.130480434G>T	-
ASS1	P00966	p.Gly275Ter	RCV000673813	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480434G>T	ClinVar
ASS1	P00966	p.Gly275_Lys412del	VAR_078409	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Met276Thr	rs1365759588	missense variant	-	NC_000009.12:g.130480438T>C	TOPMed,gnomAD
ASS1	P00966	p.Lys277Thr	VAR_058350	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg279Gln	RCV000723467	missense variant	-	NC_000009.12:g.130480447G>A	ClinVar
ASS1	P00966	p.Arg279Ter	rs121908645	stop gained	-	NC_000009.12:g.130480446C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg279Gln	rs371265106	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480447G>A	UniProt,dbSNP
ASS1	P00966	p.Arg279Gln	VAR_016008	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480447G>A	UniProt
ASS1	P00966	p.Arg279Gln	rs371265106	missense variant	-	NC_000009.12:g.130480447G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg279Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130480447G>C	NCI-TCGA
ASS1	P00966	p.Arg279Ter	RCV000006705	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480446C>T	ClinVar
ASS1	P00966	p.Arg279_Lys412del	VAR_078410	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly280Ser	rs767470664	missense variant	-	NC_000009.12:g.130480449G>A	ExAC,gnomAD
ASS1	P00966	p.Gly280Val	rs754062242	missense variant	-	NC_000009.12:g.130489333G>T	ExAC,gnomAD
ASS1	P00966	p.Gly280Val	RCV000543848	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489333G>T	ClinVar
ASS1	P00966	p.Gly280Ala	rs754062242	missense variant	-	NC_000009.12:g.130489333G>C	ExAC,gnomAD
ASS1	P00966	p.Gly280Arg	VAR_000689	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile281Met	COSM5979787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130489337C>G	NCI-TCGA Cosmic
ASS1	P00966	p.Tyr282Ter	rs549085827	stop gained	-	NC_000009.12:g.130489340C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu283Lys	RCV000493705	missense variant	-	NC_000009.12:g.130489341G>A	ClinVar
ASS1	P00966	p.Glu283Lys	RCV000672066	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489341G>A	ClinVar
ASS1	P00966	p.Glu283Lys	rs765338121	missense variant	-	NC_000009.12:g.130489341G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu283Lys	rs765338121	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489341G>A	UniProt,dbSNP
ASS1	P00966	p.Glu283Lys	VAR_015902	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489341G>A	UniProt
ASS1	P00966	p.Thr284Ile	rs886039853	missense variant	-	NC_000009.12:g.130489345C>T	gnomAD
ASS1	P00966	p.Thr284Ile	RCV000256276	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489345C>T	ClinVar
ASS1	P00966	p.Pro285Gln	rs1313489293	missense variant	-	NC_000009.12:g.130489348C>A	TOPMed,gnomAD
ASS1	P00966	p.Pro285Ser	rs1414109637	missense variant	-	NC_000009.12:g.130489347C>T	gnomAD
ASS1	P00966	p.Ala286Thr	COSM1460494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130489350G>A	NCI-TCGA Cosmic
ASS1	P00966	p.Gly287Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130489353G>T	NCI-TCGA
ASS1	P00966	p.Gly287Ser	rs1237139147	missense variant	-	NC_000009.12:g.130489353G>A	gnomAD
ASS1	P00966	p.Leu290Pro	VAR_078411	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr291Ser	VAR_058352	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.His292Tyr	rs1043724459	missense variant	-	NC_000009.12:g.130489368C>T	TOPMed
ASS1	P00966	p.Ala293Val	rs1433075371	missense variant	-	NC_000009.12:g.130489372C>T	TOPMed
ASS1	P00966	p.Ala293Thr	rs1225791024	missense variant	-	NC_000009.12:g.130489371G>A	gnomAD
ASS1	P00966	p.Leu295Ter	rs1278663122	stop gained	-	NC_000009.12:g.130489378T>G	gnomAD
ASS1	P00966	p.Asp296Val	rs752042210	missense variant	-	NC_000009.12:g.130489381A>T	ExAC,gnomAD
ASS1	P00966	p.Asp296Gly	VAR_058353	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile297Thr	rs1257594301	missense variant	-	NC_000009.12:g.130489384T>C	TOPMed,gnomAD
ASS1	P00966	p.Ile297Val	rs757629975	missense variant	-	NC_000009.12:g.130489383A>G	ExAC,gnomAD
ASS1	P00966	p.Glu298Ter	RCV000169181	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489386del	ClinVar
ASS1	P00966	p.Glu298Asp	rs201419685	missense variant	-	NC_000009.12:g.130489388G>C	ExAC,gnomAD
ASS1	P00966	p.Glu298Lys	rs1372482894	missense variant	-	NC_000009.12:g.130489386G>A	TOPMed
ASS1	P00966	p.Glu298Gly	rs372061654	missense variant	-	NC_000009.12:g.130489387A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu298Gly	RCV000078029	missense variant	-	NC_000009.12:g.130489387A>G	ClinVar
ASS1	P00966	p.Ala299Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130489390C>T	NCI-TCGA
ASS1	P00966	p.Ala299Asp	rs768394647	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489390C>A	UniProt,dbSNP
ASS1	P00966	p.Ala299Asp	VAR_078412	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489390C>A	UniProt
ASS1	P00966	p.Ala299Asp	rs768394647	missense variant	-	NC_000009.12:g.130489390C>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr301Ala	rs778658154	missense variant	-	NC_000009.12:g.130489395A>G	ExAC,gnomAD
ASS1	P00966	p.Met302Val	VAR_058354	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg304Trp	RCV000723845	missense variant	-	NC_000009.12:g.130489404C>T	ClinVar
ASS1	P00966	p.Arg304Trp	RCV000006702	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489404C>T	ClinVar
ASS1	P00966	p.Arg304Pro	rs771640767	missense variant	-	NC_000009.12:g.130489405G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg304Trp	rs121908642	missense variant	-	NC_000009.12:g.130489404C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg304Trp	rs121908642	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489404C>T	UniProt,dbSNP
ASS1	P00966	p.Arg304Trp	VAR_000690	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489404C>T	UniProt
ASS1	P00966	p.Arg304Gln	rs771640767	missense variant	-	NC_000009.12:g.130489405G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu305Val	RCV000078030	missense variant	-	NC_000009.12:g.130489408A>T	ClinVar
ASS1	P00966	p.Glu305Val	rs398123132	missense variant	-	NC_000009.12:g.130489408A>T	-
ASS1	P00966	p.Val306Gly	VAR_078413	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg307His	RCV000727599	missense variant	-	NC_000009.12:g.130489414G>A	ClinVar
ASS1	P00966	p.Arg307Cys	RCV000255358	missense variant	-	NC_000009.12:g.130489413C>T	ClinVar
ASS1	P00966	p.Arg307Cys	rs183276875	missense variant	-	NC_000009.12:g.130489413C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg307His	RCV000633520	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489414G>A	ClinVar
ASS1	P00966	p.Arg307Cys	rs183276875	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489413C>T	UniProt,dbSNP
ASS1	P00966	p.Arg307Cys	VAR_058355	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489413C>T	UniProt
ASS1	P00966	p.Arg307His	rs571576756	missense variant	-	NC_000009.12:g.130489414G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys308Asn	rs776452362	missense variant	-	NC_000009.12:g.130489418A>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys310Gln	RCV000006711	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489422A>C	ClinVar
ASS1	P00966	p.Lys310Gln	rs121908648	missense variant	-	NC_000009.12:g.130489422A>C	ExAC,gnomAD
ASS1	P00966	p.Lys310Gln	rs121908648	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489422A>C	UniProt,dbSNP
ASS1	P00966	p.Lys310Gln	VAR_016009	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489422A>C	UniProt
ASS1	P00966	p.Lys310Arg	rs199751308	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489423A>G	UniProt,dbSNP
ASS1	P00966	p.Lys310Arg	VAR_015903	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489423A>G	UniProt
ASS1	P00966	p.Lys310Arg	rs199751308	missense variant	-	NC_000009.12:g.130489423A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys310Arg	RCV000286574	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489423A>G	ClinVar
ASS1	P00966	p.Gln311Arg	rs999685778	missense variant	-	NC_000009.12:g.130489426A>G	TOPMed,gnomAD
ASS1	P00966	p.Gln311Ter	RCV000668096	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489425C>T	ClinVar
ASS1	P00966	p.Gln311Ter	rs1301613270	stop gained	-	NC_000009.12:g.130489425C>T	gnomAD
ASS1	P00966	p.Gln311Glu	rs1301613270	missense variant	-	NC_000009.12:g.130489425C>G	gnomAD
ASS1	P00966	p.Gln311_Lys412del	VAR_078414	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly312Val	rs763028919	missense variant	-	NC_000009.12:g.130489429G>T	ExAC,gnomAD
ASS1	P00966	p.Leu313Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.130489431C>A	NCI-TCGA
ASS1	P00966	p.Leu315Phe	COSM1314566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130489439G>C	NCI-TCGA Cosmic
ASS1	P00966	p.Phe317Ter	RCV000674984	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489445del	ClinVar
ASS1	P00966	p.Val321Met	RCV000672058	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489455G>A	ClinVar
ASS1	P00966	p.Val321Met	rs727503813	missense variant	-	NC_000009.12:g.130489455G>A	-
ASS1	P00966	p.Val321Met	RCV000152807	missense variant	-	NC_000009.12:g.130489455G>A	ClinVar
ASS1	P00966	p.Tyr322Cys	rs373473841	missense variant	-	NC_000009.12:g.130489459A>G	ESP,ExAC,gnomAD
ASS1	P00966	p.Thr323Ile	rs1250895424	missense variant	-	NC_000009.12:g.130489462C>T	TOPMed,gnomAD
ASS1	P00966	p.Gly324Ser	rs121908639	missense variant	-	NC_000009.12:g.130489464G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly324Ser	rs121908639	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489464G>A	UniProt,dbSNP
ASS1	P00966	p.Gly324Ser	VAR_000691	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489464G>A	UniProt
ASS1	P00966	p.Gly324Val	RCV000557764	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494867G>T	ClinVar
ASS1	P00966	p.Gly324Val	rs1554725034	missense variant	-	NC_000009.12:g.130494867G>T	-
ASS1	P00966	p.Gly324Ser	RCV000006699	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489464G>A	ClinVar
ASS1	P00966	p.Gly324Cys	rs121908639	missense variant	-	NC_000009.12:g.130489464G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly324Val	VAR_058356	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Trp326Ter	COSM3654887	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.130494874G>A	NCI-TCGA Cosmic
ASS1	P00966	p.Trp326Ter	RCV000411785	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494874del	ClinVar
ASS1	P00966	p.His327Tyr	COSM1105976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130494875C>T	NCI-TCGA Cosmic
ASS1	P00966	p.Ser328Asn	rs1224833895	missense variant	-	NC_000009.12:g.130494879G>A	TOPMed
ASS1	P00966	p.Cys331Arg	rs1055308437	missense variant	-	NC_000009.12:g.130494887T>C	TOPMed
ASS1	P00966	p.Glu332Gly	rs1484802218	missense variant	-	NC_000009.12:g.130494891A>G	gnomAD
ASS1	P00966	p.Glu332Lys	rs1283242027	missense variant	-	NC_000009.12:g.130494890G>A	TOPMed
ASS1	P00966	p.Phe333Val	rs756665874	missense variant	-	NC_000009.12:g.130494893T>G	ExAC,gnomAD
ASS1	P00966	p.Val334Ala	rs1434881256	missense variant	-	NC_000009.12:g.130494897T>C	TOPMed
ASS1	P00966	p.Arg335His	rs555388438	missense variant	-	NC_000009.12:g.130494900G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg335His	rs555388438	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494900G>A	UniProt,dbSNP
ASS1	P00966	p.Arg335His	VAR_078416	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494900G>A	UniProt
ASS1	P00966	p.Arg335Cys	RCV000633519	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494899C>T	ClinVar
ASS1	P00966	p.Arg335Cys	rs373514077	missense variant	-	NC_000009.12:g.130494899C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg335His	RCV000670744	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494900G>A	ClinVar
ASS1	P00966	p.Cys337Gly	rs1554725043	missense variant	-	NC_000009.12:g.130494905T>G	-
ASS1	P00966	p.Cys337Gly	RCV000633524	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494905T>G	ClinVar
ASS1	P00966	p.Cys337Arg	VAR_078417	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile338Val	rs769634647	missense variant	-	NC_000009.12:g.130494908A>G	ExAC,gnomAD
ASS1	P00966	p.Ile338Phe	rs769634647	missense variant	-	NC_000009.12:g.130494908A>T	ExAC,gnomAD
ASS1	P00966	p.Ala339Thr	RCV000377584	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494911G>A	ClinVar
ASS1	P00966	p.Ala339Thr	rs145100866	missense variant	-	NC_000009.12:g.130494911G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys340Met	rs538040998	missense variant	-	NC_000009.12:g.130494915A>T	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Lys340Arg	rs538040998	missense variant	-	NC_000009.12:g.130494915A>G	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Ser341Phe	COSM3654888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130494918C>T	NCI-TCGA Cosmic
ASS1	P00966	p.Ser341Phe	VAR_058357	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gln342Arg	rs1554725061	missense variant	-	NC_000009.12:g.130494921A>G	-
ASS1	P00966	p.Gln342Arg	RCV000546005	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494921A>G	ClinVar
ASS1	P00966	p.Glu343Lys	COSM3654889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130494923G>A	NCI-TCGA Cosmic
ASS1	P00966	p.Arg344Ter	RCV000169239	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494926C>T	ClinVar
ASS1	P00966	p.Arg344Gln	rs999411828	missense variant	-	NC_000009.12:g.130494927G>A	TOPMed
ASS1	P00966	p.Arg344Ter	rs786204537	stop gained	-	NC_000009.12:g.130494926C>T	gnomAD
ASS1	P00966	p.Arg344_Lys412del	VAR_078418	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val345Gly	VAR_058358	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Glu346Asp	rs1289852479	missense variant	-	NC_000009.12:g.130494934A>C	TOPMed,gnomAD
ASS1	P00966	p.Gly347Arg	VAR_058359	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Lys348Glu	rs1428619789	missense variant	-	NC_000009.12:g.130494938A>G	TOPMed
ASS1	P00966	p.Val349Met	rs1174700771	missense variant	-	NC_000009.12:g.130494941G>A	gnomAD
ASS1	P00966	p.Val351Met	rs773909247	missense variant	-	NC_000009.12:g.130494947G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val353Ile	rs754285392	missense variant	-	NC_000009.12:g.130494953G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys355Ter	RCV000306977	frameshift	-	NC_000009.12:g.130494960del	ClinVar
ASS1	P00966	p.Gly356Val	RCV000672036	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494963G>T	ClinVar
ASS1	P00966	p.Gly356Asp	rs1261110148	missense variant	-	NC_000009.12:g.130494963G>A	gnomAD
ASS1	P00966	p.Gly356Val	rs1261110148	missense variant	-	NC_000009.12:g.130494963G>T	gnomAD
ASS1	P00966	p.Gly356Val	VAR_078419	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gln357Ter	rs756859126	stop gained	-	NC_000009.12:g.130494965C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln357Ter	RCV000633522	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494965C>T	ClinVar
ASS1	P00966	p.Gln357_Lys412del	VAR_078420	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val358Met	rs780667165	missense variant	-	NC_000009.12:g.130494968G>A	ExAC,gnomAD
ASS1	P00966	p.Val358Leu	rs780667165	missense variant	-	NC_000009.12:g.130494968G>T	ExAC,gnomAD
ASS1	P00966	p.Tyr359Asp	RCV000690358	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494971T>G	ClinVar
ASS1	P00966	p.Tyr359His	rs1262020902	missense variant	-	NC_000009.12:g.130494971T>C	TOPMed
ASS1	P00966	p.Tyr359Cys	rs1486068351	missense variant	-	NC_000009.12:g.130494972A>G	gnomAD
ASS1	P00966	p.Tyr359Asp	VAR_058360	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile360Asn	rs1248643636	missense variant	-	NC_000009.12:g.130494975T>A	gnomAD
ASS1	P00966	p.Leu361Arg	rs1160216159	missense variant	-	NC_000009.12:g.130494978T>G	gnomAD
ASS1	P00966	p.Gly362Val	RCV000256322	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494981G>T	ClinVar
ASS1	P00966	p.Gly362Ser	rs779930497	missense variant	-	NC_000009.12:g.130494980G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly362Val	RCV000006708	missense variant	Citrullinemia, mild	NC_000009.12:g.130494981G>T	ClinVar
ASS1	P00966	p.Gly362Val	RCV000418697	missense variant	-	NC_000009.12:g.130494981G>T	ClinVar
ASS1	P00966	p.Gly362Val	rs121908647	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494981G>T	UniProt,dbSNP
ASS1	P00966	p.Gly362Val	VAR_015904	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494981G>T	UniProt
ASS1	P00966	p.Gly362Val	rs121908647	missense variant	-	NC_000009.12:g.130494981G>T	gnomAD
ASS1	P00966	p.Arg363Trp	RCV000006700	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494983C>T	ClinVar
ASS1	P00966	p.Arg363Trp	RCV000185787	missense variant	-	NC_000009.12:g.130494983C>T	ClinVar
ASS1	P00966	p.Arg363Gln	RCV000633525	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494984G>A	ClinVar
ASS1	P00966	p.Arg363Gln	rs771937610	missense variant	-	NC_000009.12:g.130494984G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg363Trp	rs121908640	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494983C>T	UniProt,dbSNP
ASS1	P00966	p.Arg363Trp	VAR_000693	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494983C>T	UniProt
ASS1	P00966	p.Arg363Trp	rs121908640	missense variant	-	NC_000009.12:g.130494983C>T	TOPMed,gnomAD
ASS1	P00966	p.Arg363Leu	VAR_000692	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg363Gly	VAR_016010	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Leu367Pro	rs1370653471	missense variant	-	NC_000009.12:g.130494996T>C	gnomAD
ASS1	P00966	p.Glu372Asp	rs1355666688	missense variant	-	NC_000009.12:g.130495012G>T	gnomAD
ASS1	P00966	p.Glu373Ter	rs1453708640	stop gained	-	NC_000009.12:g.130495013G>T	TOPMed
ASS1	P00966	p.Met377Ile	rs1361316705	missense variant	-	NC_000009.12:g.130499508G>A	gnomAD
ASS1	P00966	p.Asn378Lys	rs140715869	missense variant	-	NC_000009.12:g.130499511C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val379Met	rs78549067	missense variant	-	NC_000009.12:g.130499512G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val379Leu	rs78549067	missense variant	-	NC_000009.12:g.130499512G>C	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln380Ter	RCV000169103	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499515C>T	ClinVar
ASS1	P00966	p.Gln380Ter	RCV000672915	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499516del	ClinVar
ASS1	P00966	p.Gln380His	rs746347893	missense variant	-	NC_000009.12:g.130499517G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln380Ter	rs786204460	stop gained	-	NC_000009.12:g.130499515C>T	-
ASS1	P00966	p.Gln380_Lys412del	VAR_078421	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Asp382Val	rs770243951	missense variant	-	NC_000009.12:g.130499522A>T	ExAC
ASS1	P00966	p.Pro385Ala	rs775691183	missense variant	-	NC_000009.12:g.130499530C>G	ExAC,gnomAD
ASS1	P00966	p.Thr386Pro	rs376164698	missense variant	-	NC_000009.12:g.130499533A>C	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr386Ile	rs1486493080	missense variant	-	NC_000009.12:g.130499534C>T	TOPMed,gnomAD
ASS1	P00966	p.Thr386Ala	rs376164698	missense variant	-	NC_000009.12:g.130499533A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr389Ile	rs1474017319	missense variant	-	NC_000009.12:g.130499543C>T	gnomAD
ASS1	P00966	p.Thr389Ile	rs1474017319	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499543C>T	UniProt,dbSNP
ASS1	P00966	p.Thr389Ile	VAR_016012	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499543C>T	UniProt
ASS1	P00966	p.Thr389Ala	rs145288815	missense variant	-	NC_000009.12:g.130499542A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr389Pro	VAR_078422	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly390Arg	RCV000006701	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499545G>A	ClinVar
ASS1	P00966	p.Gly390Glu	rs753858624	missense variant	-	NC_000009.12:g.130499546G>A	ExAC,gnomAD
ASS1	P00966	p.Gly390Trp	rs121908641	missense variant	-	NC_000009.12:g.130499545G>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly390Arg	rs121908641	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499545G>A	UniProt,dbSNP
ASS1	P00966	p.Gly390Arg	VAR_000694	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499545G>A	UniProt
ASS1	P00966	p.Gly390Arg	rs121908641	missense variant	-	NC_000009.12:g.130499545G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Phe391Leu	rs1554725724	missense variant	-	NC_000009.12:g.130499550C>A	-
ASS1	P00966	p.Phe391Leu	RCV000497925	missense variant	-	NC_000009.12:g.130499550C>A	ClinVar
ASS1	P00966	p.Asn393Lys	rs754836732	missense variant	-	NC_000009.12:g.130499556C>G	ExAC,gnomAD
ASS1	P00966	p.Ile394Met	rs1011135762	missense variant	-	NC_000009.12:g.130499559C>G	TOPMed
ASS1	P00966	p.Ile394Val	rs1301940406	missense variant	-	NC_000009.12:g.130499557A>G	TOPMed
ASS1	P00966	p.Asn395Ser	rs1021193921	missense variant	-	NC_000009.12:g.130499561A>G	TOPMed,gnomAD
ASS1	P00966	p.Ser396Thr	rs1419938185	missense variant	-	NC_000009.12:g.130499563T>A	TOPMed
ASS1	P00966	p.Arg398Ser	rs1437068422	missense variant	-	NC_000009.12:g.130500976G>C	TOPMed
ASS1	P00966	p.Tyr402Cys	rs1347470516	missense variant	-	NC_000009.12:g.130500987A>G	TOPMed,gnomAD
ASS1	P00966	p.His403Arg	rs964964749	missense variant	-	NC_000009.12:g.130500990A>G	TOPMed,gnomAD
ASS1	P00966	p.Arg404His	rs752612525	missense variant	-	NC_000009.12:g.130500993G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg404Cys	rs765099183	missense variant	-	NC_000009.12:g.130500992C>T	ExAC,gnomAD
ASS1	P00966	p.Leu405Pro	rs1242919093	missense variant	-	NC_000009.12:g.130500996T>C	gnomAD
ASS1	P00966	p.Lys408Asn	rs758336855	missense variant	-	NC_000009.12:g.130501006G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys412Thr	COSM73754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.130501017A>C	NCI-TCGA Cosmic
ASS1	P00966	p.Ter413Gln	rs763970075	stop lost	-	NC_000009.12:g.130501019T>C	ExAC,gnomAD
ASS1	P00966	p.Ter413Tyr	rs1243083380	stop lost	-	NC_000009.12:g.130501021G>C	TOPMed
ASS1	P00966	p.Met1Ile	RCV000411464	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452231G>A	ClinVar
ASS1	P00966	p.Met1Val	RCV000665063	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452229A>G	ClinVar
ASS1	P00966	p.Ser2Thr	rs200379004	missense variant	-	NC_000009.12:g.130452232T>A	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Gly5Ala	rs201700775	missense variant	-	NC_000009.12:g.130452242G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly5Val	rs201700775	missense variant	-	NC_000009.12:g.130452242G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser6Ala	rs757913342	missense variant	-	NC_000009.12:g.130452244T>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser6Pro	rs757913342	missense variant	-	NC_000009.12:g.130452244T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val7Met	rs149938546	missense variant	-	NC_000009.12:g.130452247G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Leu9Val	rs144999474	missense variant	-	NC_000009.12:g.130452253C>G	ESP,ExAC
ASS1	P00966	p.Ser12Gly	rs1283372037	missense variant	-	NC_000009.12:g.130452262A>G	TOPMed
ASS1	P00966	p.Gly14Ser	rs121908636	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452268G>A	UniProt,dbSNP
ASS1	P00966	p.Gly14Ser	VAR_000681	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452268G>A	UniProt
ASS1	P00966	p.Gly14Ser	rs121908636	missense variant	-	NC_000009.12:g.130452268G>A	ExAC,gnomAD
ASS1	P00966	p.Gly14Ser	RCV000006696	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452268G>A	ClinVar
ASS1	P00966	p.Ser18Leu	RCV000006703	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452281C>T	ClinVar
ASS1	P00966	p.Ser18Leu	rs121908643	missense variant	-	NC_000009.12:g.130452281C>T	ExAC,gnomAD
ASS1	P00966	p.Ser18Leu	rs121908643	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452281C>T	UniProt,dbSNP
ASS1	P00966	p.Ser18Leu	VAR_000682	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452281C>T	UniProt
ASS1	P00966	p.Cys19Arg	VAR_015891	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val22Met	rs762279472	missense variant	-	NC_000009.12:g.130452292G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val22Gly	rs912037125	missense variant	-	NC_000009.12:g.130452293T>G	TOPMed,gnomAD
ASS1	P00966	p.Val22Leu	rs762279472	missense variant	-	NC_000009.12:g.130452292G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val22Leu	rs762279472	missense variant	-	NC_000009.12:g.130452292G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Trp23Ter	rs1175810875	stop gained	-	NC_000009.12:g.130452297G>A	TOPMed
ASS1	P00966	p.Glu26Lys	rs766668660	missense variant	-	NC_000009.12:g.130452304G>A	ExAC,gnomAD
ASS1	P00966	p.Gln27Lys	rs543339767	missense variant	-	NC_000009.12:g.130452307C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln27_Lys412del	VAR_078387	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr29Cys	rs1457270102	missense variant	-	NC_000009.12:g.130452314A>G	TOPMed,gnomAD
ASS1	P00966	p.Asp30Tyr	rs758038108	missense variant	-	NC_000009.12:g.130452316G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp30Asn	rs758038108	missense variant	-	NC_000009.12:g.130452316G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val31Ile	rs374444560	missense variant	-	NC_000009.12:g.130452319G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ile32Thr	rs1313069512	missense variant	-	NC_000009.12:g.130452323T>C	gnomAD
ASS1	P00966	p.Ile32Val	rs142221856	missense variant	-	NC_000009.12:g.130452322A>G	ESP,TOPMed
ASS1	P00966	p.Ala36Asp	rs1479796639	missense variant	-	NC_000009.12:g.130454306C>A	gnomAD
ASS1	P00966	p.Asn37Ser	rs1412223944	missense variant	-	NC_000009.12:g.130454309A>G	TOPMed
ASS1	P00966	p.Ile38Val	rs1176198275	missense variant	-	NC_000009.12:g.130454311A>G	gnomAD
ASS1	P00966	p.Gln40His	rs751131164	missense variant	-	NC_000009.12:g.130454319G>C	ExAC
ASS1	P00966	p.Gln40Leu	VAR_058337	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Lys41Ter	RCV000633523	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454319del	ClinVar
ASS1	P00966	p.Glu42Lys	rs1460136199	missense variant	-	NC_000009.12:g.130454323G>A	gnomAD
ASS1	P00966	p.Asp43His	rs1167026676	missense variant	-	NC_000009.12:g.130454326G>C	gnomAD
ASS1	P00966	p.Glu45Lys	rs766880501	missense variant	-	NC_000009.12:g.130454332G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala47Val	rs1301161301	missense variant	-	NC_000009.12:g.130454339C>T	gnomAD
ASS1	P00966	p.Arg48Gly	rs374695792	missense variant	-	NC_000009.12:g.130454341A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala51Thr	rs142350255	missense variant	-	NC_000009.12:g.130454350G>A	ESP,ExAC,TOPMed
ASS1	P00966	p.Leu54Val	RCV000701082	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454359C>G	ClinVar
ASS1	P00966	p.Ala56Thr	rs773150312	missense variant	-	NC_000009.12:g.130454365G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys57Glu	rs779222693	missense variant	-	NC_000009.12:g.130454368A>G	ExAC,gnomAD
ASS1	P00966	p.Val59Met	rs1390986372	missense variant	-	NC_000009.12:g.130458401G>A	gnomAD
ASS1	P00966	p.Val59Ter	RCV000668829	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454372dup	ClinVar
ASS1	P00966	p.Phe60Cys	rs746316364	missense variant	-	NC_000009.12:g.130458405T>G	ExAC,gnomAD
ASS1	P00966	p.Ile61Thr	rs769314825	missense variant	-	NC_000009.12:g.130458408T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ile61Val	rs1423131094	missense variant	-	NC_000009.12:g.130458407A>G	TOPMed
ASS1	P00966	p.Glu62Lys	rs1230404130	missense variant	-	NC_000009.12:g.130458410G>A	TOPMed,gnomAD
ASS1	P00966	p.Val64Ile	rs556297791	missense variant	-	NC_000009.12:g.130458416G>A	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Val64Ile	rs556297791	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458416G>A	UniProt,dbSNP
ASS1	P00966	p.Val64Ile	VAR_078388	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458416G>A	UniProt
ASS1	P00966	p.Val64Ile	RCV000669936	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458416G>A	ClinVar
ASS1	P00966	p.Glu67Lys	rs1257036291	missense variant	-	NC_000009.12:g.130458425G>A	TOPMed
ASS1	P00966	p.Val69Ala	rs771594651	missense variant	-	NC_000009.12:g.130458432T>C	ExAC,gnomAD
ASS1	P00966	p.Val69Ala	rs771594651	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458432T>C	UniProt,dbSNP
ASS1	P00966	p.Val69Ala	VAR_016013	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458432T>C	UniProt
ASS1	P00966	p.Phe72Leu	rs1554982824	missense variant	-	NC_000009.12:g.130458442C>G	-
ASS1	P00966	p.Phe72Leu	RCV000666531	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458442C>G	ClinVar
ASS1	P00966	p.Pro75Leu	rs760286858	missense variant	-	NC_000009.12:g.130458450C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala76Ter	RCV000411227	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458452del	ClinVar
ASS1	P00966	p.Ile77Phe	rs776718909	missense variant	-	NC_000009.12:g.130458455A>T	ExAC,gnomAD
ASS1	P00966	p.Ser79Pro	VAR_058338	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala81Thr	RCV000303779	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458467G>A	ClinVar
ASS1	P00966	p.Ala81Val	rs764329260	missense variant	-	NC_000009.12:g.130458468C>T	ExAC,gnomAD
ASS1	P00966	p.Ala81Thr	rs141640176	missense variant	-	NC_000009.12:g.130458467G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Leu82Pro	rs559043503	missense variant	-	NC_000009.12:g.130458471T>C	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr83His	rs753659761	missense variant	-	NC_000009.12:g.130458473T>C	ExAC,gnomAD
ASS1	P00966	p.Glu84Lys	rs1554982834	missense variant	-	NC_000009.12:g.130458476G>A	-
ASS1	P00966	p.Glu84Lys	RCV000533818	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458476G>A	ClinVar
ASS1	P00966	p.Arg86His	RCV000256238	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458483G>A	ClinVar
ASS1	P00966	p.Arg86His	rs575001023	missense variant	-	NC_000009.12:g.130458483G>A	ExAC,gnomAD
ASS1	P00966	p.Arg86Cys	RCV000006704	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458482C>T	ClinVar
ASS1	P00966	p.Arg86Cys	rs121908644	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458482C>T	UniProt,dbSNP
ASS1	P00966	p.Arg86Cys	VAR_000683	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458482C>T	UniProt
ASS1	P00966	p.Arg86Cys	rs121908644	missense variant	-	NC_000009.12:g.130458482C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr87Phe	rs780509094	missense variant	-	NC_000009.12:g.130458486A>T	ExAC,gnomAD
ASS1	P00966	p.Leu88Ile	RCV000527150	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458488C>A	ClinVar
ASS1	P00966	p.Leu88Ile	rs895822620	missense variant	-	NC_000009.12:g.130458488C>A	TOPMed,gnomAD
ASS1	P00966	p.Leu88Phe	rs895822620	missense variant	-	NC_000009.12:g.130458488C>T	TOPMed,gnomAD
ASS1	P00966	p.Leu89Val	rs1277427690	missense variant	-	NC_000009.12:g.130458491C>G	gnomAD
ASS1	P00966	p.Gly90Asp	rs1422867920	missense variant	-	NC_000009.12:g.130458495G>A	TOPMed,gnomAD
ASS1	P00966	p.Thr91Pro	rs769018733	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458497A>C	UniProt,dbSNP
ASS1	P00966	p.Thr91Pro	VAR_078389	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458497A>C	UniProt
ASS1	P00966	p.Thr91Pro	rs769018733	missense variant	-	NC_000009.12:g.130458497A>C	ExAC,gnomAD
ASS1	P00966	p.Ser92Phe	rs773015306	missense variant	-	NC_000009.12:g.130458501C>T	ExAC,gnomAD
ASS1	P00966	p.Arg95Ser	VAR_015893	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Pro96Ser	VAR_015894	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Pro96His	VAR_058339	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Pro96Leu	VAR_078390	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Cys97Ter	RCV000670815	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458517C>A	ClinVar
ASS1	P00966	p.Cys97Ser	rs1230950318	missense variant	-	NC_000009.12:g.130458516G>C	gnomAD
ASS1	P00966	p.Cys97Ter	rs1554982847	stop gained	-	NC_000009.12:g.130458517C>A	-
ASS1	P00966	p.Cys97_Lys412del	VAR_078391	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile98Val	rs746597456	missense variant	-	NC_000009.12:g.130458518A>G	ExAC,gnomAD
ASS1	P00966	p.Ala99Thr	rs150466363	missense variant	-	NC_000009.12:g.130458521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg100His	RCV000669776	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458525G>A	ClinVar
ASS1	P00966	p.Arg100His	RCV000508525	missense variant	-	NC_000009.12:g.130458525G>A	ClinVar
ASS1	P00966	p.Arg100Cys	RCV000669448	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458524C>T	ClinVar
ASS1	P00966	p.Arg100His	rs138279074	missense variant	-	NC_000009.12:g.130458525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg100His	rs138279074	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458525G>A	UniProt,dbSNP
ASS1	P00966	p.Arg100His	VAR_078393	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458525G>A	UniProt
ASS1	P00966	p.Arg100Cys	rs370695114	missense variant	-	NC_000009.12:g.130458524C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg100Cys	rs370695114	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458524C>T	UniProt,dbSNP
ASS1	P00966	p.Arg100Cys	VAR_078392	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458524C>T	UniProt
ASS1	P00966	p.Ala106Thr	rs762677536	missense variant	-	NC_000009.12:g.130458542G>A	ExAC,gnomAD
ASS1	P00966	p.Ala106Gly	rs763817750	missense variant	-	NC_000009.12:g.130458543C>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln107Arg	rs149602848	missense variant	-	NC_000009.12:g.130458546A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln107Ter	RCV000695591	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458545del	ClinVar
ASS1	P00966	p.Arg108Trp	rs143405567	missense variant	-	NC_000009.12:g.130458548C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg108Leu	RCV000436562	missense variant	-	NC_000009.12:g.130458549G>T	ClinVar
ASS1	P00966	p.Arg108Gln	rs35269064	missense variant	-	NC_000009.12:g.130458549G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg108Leu	rs35269064	missense variant	-	NC_000009.12:g.130458549G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg108Leu	rs35269064	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458549G>T	UniProt,dbSNP
ASS1	P00966	p.Arg108Leu	VAR_016014	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458549G>T	UniProt
ASS1	P00966	p.Glu109Lys	rs371907747	missense variant	-	NC_000009.12:g.130458551G>A	ESP,ExAC,gnomAD
ASS1	P00966	p.Glu109Val	rs962458695	missense variant	-	NC_000009.12:g.130458552A>T	TOPMed
ASS1	P00966	p.Ala111Asp	VAR_078394	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr113Cys	rs146176455	missense variant	-	NC_000009.12:g.130458564A>G	ESP,ExAC,gnomAD
ASS1	P00966	p.Val114Met	rs779412497	missense variant	-	NC_000009.12:g.130458566G>A	ExAC,gnomAD
ASS1	P00966	p.Gly117Ser	rs770944877	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458575G>A	UniProt,dbSNP
ASS1	P00966	p.Gly117Ser	VAR_015895	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458575G>A	UniProt
ASS1	P00966	p.Gly117Ser	rs770944877	missense variant	-	NC_000009.12:g.130458575G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly117Val	rs745404241	missense variant	-	NC_000009.12:g.130458576G>T	ExAC,gnomAD
ASS1	P00966	p.Gly117Ser	RCV000671967	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458575G>A	ClinVar
ASS1	P00966	p.Gly117Cys	VAR_078395	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly117Asp	VAR_015896	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala118Thr	rs775305020	missense variant	-	NC_000009.12:g.130458578G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala118Thr	rs775305020	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458578G>A	UniProt,dbSNP
ASS1	P00966	p.Ala118Thr	VAR_000684	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458578G>A	UniProt
ASS1	P00966	p.Thr119Pro	rs794727696	missense variant	-	NC_000009.12:g.130458581A>C	-
ASS1	P00966	p.Thr119Pro	RCV000178706	missense variant	-	NC_000009.12:g.130458581A>C	ClinVar
ASS1	P00966	p.Thr119Ile	VAR_016015	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Asn123Lys	rs761616623	missense variant	-	NC_000009.12:g.130464116C>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp124Asn	rs936192871	missense variant	-	NC_000009.12:g.130464117G>A	gnomAD
ASS1	P00966	p.Asp124Asn	RCV000552381	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464117G>A	ClinVar
ASS1	P00966	p.Arg127Leu	RCV000665366	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464127G>T	ClinVar
ASS1	P00966	p.Arg127Gln	RCV000761475	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464127G>A	ClinVar
ASS1	P00966	p.Arg127Leu	rs201623252	missense variant	-	NC_000009.12:g.130464127G>T	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Arg127Leu	rs201623252	missense variant	-	NC_000009.12:g.130464127G>T	UniProt,dbSNP
ASS1	P00966	p.Arg127Leu	VAR_078396	missense variant	-	NC_000009.12:g.130464127G>T	UniProt
ASS1	P00966	p.Arg127Trp	rs771794639	missense variant	-	NC_000009.12:g.130464126C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg127Gln	rs201623252	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130464127G>A	UniProt,dbSNP
ASS1	P00966	p.Arg127Gln	VAR_058341	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130464127G>A	UniProt
ASS1	P00966	p.Arg127Gln	rs201623252	missense variant	-	NC_000009.12:g.130464127G>A	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Arg127Trp	RCV000668864	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464126C>T	ClinVar
ASS1	P00966	p.Phe128Leu	rs1226547650	missense variant	-	NC_000009.12:g.130464131T>G	gnomAD
ASS1	P00966	p.Ser131Gly	rs1465454336	missense variant	-	NC_000009.12:g.130464138A>G	gnomAD
ASS1	P00966	p.Ala136Ser	rs776754303	missense variant	-	NC_000009.12:g.130464153G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala136Val	rs760164246	missense variant	-	NC_000009.12:g.130464154C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln138Ter	RCV000665132	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464159dup	ClinVar
ASS1	P00966	p.Gln138Ter	rs1057516339	stop gained	-	NC_000009.12:g.130464159C>T	-
ASS1	P00966	p.Gln138Ter	RCV000409826	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464159C>T	ClinVar
ASS1	P00966	p.Gln138_Lys412del	VAR_078397	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile139Met	rs1401148533	missense variant	-	NC_000009.12:g.130464164A>G	TOPMed
ASS1	P00966	p.Val141Gly	rs1184442048	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466726T>G	UniProt,dbSNP
ASS1	P00966	p.Val141Gly	VAR_072792	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466726T>G	UniProt
ASS1	P00966	p.Val141Gly	rs1184442048	missense variant	-	NC_000009.12:g.130466726T>G	TOPMed
ASS1	P00966	p.Pro144Ser	rs769831651	missense variant	-	NC_000009.12:g.130466734C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg146Lys	rs1015400282	missense variant	-	NC_000009.12:g.130466741G>A	-
ASS1	P00966	p.Pro148Ser	rs369389991	missense variant	-	NC_000009.12:g.130466746C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu149Lys	rs1251662364	missense variant	-	NC_000009.12:g.130466749G>A	TOPMed
ASS1	P00966	p.Phe150Ter	RCV000169436	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466754_130466755del	ClinVar
ASS1	P00966	p.Tyr151Ser	rs754486641	missense variant	-	NC_000009.12:g.130466756A>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg153Gln	RCV000364188	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466762G>A	ClinVar
ASS1	P00966	p.Arg153Trp	rs576636333	missense variant	-	NC_000009.12:g.130466761C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg153Leu	rs373239430	missense variant	-	NC_000009.12:g.130466762G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg153Gln	rs373239430	missense variant	-	NC_000009.12:g.130466762G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Phe154Ter	RCV000780873	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466764_130466771del	ClinVar
ASS1	P00966	p.Lys155Glu	rs746855701	missense variant	-	NC_000009.12:g.130466767A>G	ExAC,gnomAD
ASS1	P00966	p.Lys155Arg	rs960633659	missense variant	-	NC_000009.12:g.130466768A>G	TOPMed
ASS1	P00966	p.Arg157Cys	rs770585183	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466773C>T	UniProt,dbSNP
ASS1	P00966	p.Arg157Cys	VAR_015897	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466773C>T	UniProt
ASS1	P00966	p.Arg157Cys	rs770585183	missense variant	-	NC_000009.12:g.130466773C>T	ExAC,gnomAD
ASS1	P00966	p.Arg157His	rs121908637	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466774G>A	UniProt,dbSNP
ASS1	P00966	p.Arg157His	VAR_000685	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466774G>A	UniProt
ASS1	P00966	p.Arg157His	rs121908637	missense variant	-	NC_000009.12:g.130466774G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg157His	RCV000259104	missense variant	-	NC_000009.12:g.130466774G>A	ClinVar
ASS1	P00966	p.Arg157Ser	VAR_078398	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Asn158Ser	rs770066903	missense variant	-	NC_000009.12:g.130466777A>G	ExAC,gnomAD
ASS1	P00966	p.Asn158Asp	rs1199062770	missense variant	-	NC_000009.12:g.130466776A>G	gnomAD
ASS1	P00966	p.Met161Leu	rs775699839	missense variant	-	NC_000009.12:g.130466785A>T	ExAC,gnomAD
ASS1	P00966	p.Tyr163Ter	rs377319610	stop gained	-	NC_000009.12:g.130466793C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr163Cys	rs1167697513	missense variant	-	NC_000009.12:g.130466792A>G	gnomAD
ASS1	P00966	p.Tyr163_Lys412del	VAR_078399	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala164Ser	rs201445618	missense variant	-	NC_000009.12:g.130466794G>T	TOPMed,gnomAD
ASS1	P00966	p.Ala164Thr	rs201445618	missense variant	-	NC_000009.12:g.130466794G>A	TOPMed,gnomAD
ASS1	P00966	p.Ala164Pro	VAR_078400	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.His167Tyr	rs978412155	missense variant	-	NC_000009.12:g.130470837C>T	TOPMed
ASS1	P00966	p.His167Arg	rs577627504	missense variant	-	NC_000009.12:g.130470838A>G	1000Genomes
ASS1	P00966	p.Gly168Arg	rs763449750	missense variant	-	NC_000009.12:g.130470840G>A	ExAC,gnomAD
ASS1	P00966	p.Gly168Arg	rs763449750	missense variant	-	NC_000009.12:g.130470840G>C	ExAC,gnomAD
ASS1	P00966	p.Pro172Leu	RCV000315185	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470853C>T	ClinVar
ASS1	P00966	p.Pro172Arg	rs372078387	missense variant	-	NC_000009.12:g.130470853C>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro172Leu	rs372078387	missense variant	-	NC_000009.12:g.130470853C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val173Leu	rs911748539	missense variant	-	NC_000009.12:g.130470855G>C	TOPMed,gnomAD
ASS1	P00966	p.Val173Ile	rs911748539	missense variant	-	NC_000009.12:g.130470855G>A	TOPMed,gnomAD
ASS1	P00966	p.Val173Phe	rs911748539	missense variant	-	NC_000009.12:g.130470855G>T	TOPMed,gnomAD
ASS1	P00966	p.Lys176Glu	rs1207643091	missense variant	-	NC_000009.12:g.130470864A>G	gnomAD
ASS1	P00966	p.Lys176Arg	rs755924197	missense variant	-	NC_000009.12:g.130470865A>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asn177Ser	rs780436694	missense variant	-	NC_000009.12:g.130470868A>G	ExAC,gnomAD
ASS1	P00966	p.Pro178Leu	rs768846877	missense variant	-	NC_000009.12:g.130470871C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Trp179Arg	RCV000256312	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470873T>C	ClinVar
ASS1	P00966	p.Trp179Arg	RCV000291508	missense variant	-	NC_000009.12:g.130470873T>C	ClinVar
ASS1	P00966	p.Trp179Arg	RCV000006707	missense variant	Citrullinemia, mild	NC_000009.12:g.130470873T>C	ClinVar
ASS1	P00966	p.Trp179Cys	rs1409764603	missense variant	-	NC_000009.12:g.130470875G>C	gnomAD
ASS1	P00966	p.Trp179Arg	rs121908646	missense variant	-	NC_000009.12:g.130470873T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Trp179Arg	rs121908646	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470873T>C	UniProt,dbSNP
ASS1	P00966	p.Trp179Arg	VAR_015898	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470873T>C	UniProt
ASS1	P00966	p.Ser180Ile	RCV000529881	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470877G>T	ClinVar
ASS1	P00966	p.Ser180Asn	rs121908638	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>A	UniProt,dbSNP
ASS1	P00966	p.Ser180Asn	VAR_000686	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>A	UniProt
ASS1	P00966	p.Ser180Asn	rs121908638	missense variant	-	NC_000009.12:g.130470877G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser180Cys	rs1456790094	missense variant	-	NC_000009.12:g.130470876A>T	gnomAD
ASS1	P00966	p.Ser180Ile	rs121908638	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>T	UniProt,dbSNP
ASS1	P00966	p.Ser180Ile	VAR_078401	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>T	UniProt
ASS1	P00966	p.Ser180Ile	rs121908638	missense variant	-	NC_000009.12:g.130470877G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser180Asn	RCV000185782	missense variant	-	NC_000009.12:g.130470877G>A	ClinVar
ASS1	P00966	p.Met181Val	rs1391150004	missense variant	-	NC_000009.12:g.130470879A>G	TOPMed,gnomAD
ASS1	P00966	p.Glu183Lys	rs773665483	missense variant	-	NC_000009.12:g.130470885G>A	ExAC
ASS1	P00966	p.Asn184Lys	rs368192467	missense variant	-	NC_000009.12:g.130470890C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asn184Lys	rs368192467	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470890C>A	UniProt,dbSNP
ASS1	P00966	p.Asn184Lys	VAR_078402	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470890C>A	UniProt
ASS1	P00966	p.Leu185His	rs775215941	missense variant	-	NC_000009.12:g.130470892T>A	ExAC
ASS1	P00966	p.Met186Ile	rs1380426442	missense variant	-	NC_000009.12:g.130470896G>A	gnomAD
ASS1	P00966	p.Met186Arg	RCV000779573	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470895T>G	ClinVar
ASS1	P00966	p.Ile188Val	rs762510847	missense variant	-	NC_000009.12:g.130470900A>G	ExAC,gnomAD
ASS1	P00966	p.Tyr190His	rs752862441	missense variant	-	NC_000009.12:g.130471486T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr190Asp	VAR_058344	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Glu191Lys	rs777828000	missense variant	-	NC_000009.12:g.130471489G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu191Lys	rs777828000	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130471489G>A	UniProt,dbSNP
ASS1	P00966	p.Glu191Lys	VAR_015899	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130471489G>A	UniProt
ASS1	P00966	p.Glu191Lys	RCV000190357	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471489G>A	ClinVar
ASS1	P00966	p.Glu191Gln	VAR_058345	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala192Thr	rs568893606	missense variant	-	NC_000009.12:g.130471492G>A	1000Genomes
ASS1	P00966	p.Ala192Val	VAR_000687	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly193Arg	rs1311437424	missense variant	-	NC_000009.12:g.130471495G>A	TOPMed
ASS1	P00966	p.Gly193Arg	RCV000702722	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471495G>A	ClinVar
ASS1	P00966	p.Leu195Pro	RCV000824287	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471502T>C	ClinVar
ASS1	P00966	p.Leu195Pro	rs796051936	missense variant	-	NC_000009.12:g.130471502T>C	-
ASS1	P00966	p.Glu196Ala	rs1430947504	missense variant	-	NC_000009.12:g.130471505A>C	gnomAD
ASS1	P00966	p.Asn197Ser	rs1331462223	missense variant	-	NC_000009.12:g.130471508A>G	gnomAD
ASS1	P00966	p.Asn197Lys	rs1355715277	missense variant	-	NC_000009.12:g.130471509C>A	gnomAD
ASS1	P00966	p.Pro198Leu	rs781652117	missense variant	-	NC_000009.12:g.130471511C>T	ExAC,gnomAD
ASS1	P00966	p.Lys199Arg	rs764078809	missense variant	-	NC_000009.12:g.130471514A>G	TOPMed,gnomAD
ASS1	P00966	p.Asn200Lys	rs750874679	missense variant	-	NC_000009.12:g.130476873C>A	ExAC,gnomAD
ASS1	P00966	p.Gln201Glu	rs563922134	missense variant	-	NC_000009.12:g.130476874C>G	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala202Glu	RCV000259040	missense variant	-	NC_000009.12:g.130476878C>A	ClinVar
ASS1	P00966	p.Ala202Glu	RCV000796571	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130476878C>A	ClinVar
ASS1	P00966	p.Ala202Glu	rs376371866	missense variant	-	NC_000009.12:g.130476878C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala202Val	rs376371866	missense variant	-	NC_000009.12:g.130476878C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro203Thr	rs147858743	missense variant	-	NC_000009.12:g.130476880C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro203Leu	rs1477093617	missense variant	-	NC_000009.12:g.130476881C>T	gnomAD
ASS1	P00966	p.Gly205Ser	rs746536193	missense variant	-	NC_000009.12:g.130476886G>A	ExAC,gnomAD
ASS1	P00966	p.Leu206Pro	VAR_058347	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Thr208Met	rs776441071	missense variant	-	NC_000009.12:g.130476896C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr208Ala	rs62637575	missense variant	-	NC_000009.12:g.130476895A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr208Arg	rs776441071	missense variant	-	NC_000009.12:g.130476896C>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro213Gln	rs1486449199	missense variant	-	NC_000009.12:g.130476911C>A	TOPMed
ASS1	P00966	p.Lys215Ile	rs1462611440	missense variant	-	NC_000009.12:g.130476917A>T	gnomAD
ASS1	P00966	p.Ala216Ser	rs1156471881	missense variant	-	NC_000009.12:g.130476919G>T	gnomAD
ASS1	P00966	p.Ala216Asp	rs1043964127	missense variant	-	NC_000009.12:g.130476920C>A	gnomAD
ASS1	P00966	p.Thr219Ala	rs1280678606	missense variant	-	NC_000009.12:g.130476928A>G	TOPMed
ASS1	P00966	p.Thr219Asn	rs769538241	missense variant	-	NC_000009.12:g.130476929C>A	ExAC,gnomAD
ASS1	P00966	p.Glu224Lys	rs764331417	missense variant	-	NC_000009.12:g.130476943G>A	ExAC,gnomAD
ASS1	P00966	p.Glu226Lys	rs761813681	missense variant	-	NC_000009.12:g.130476949G>A	ExAC,gnomAD
ASS1	P00966	p.Glu226Val	rs767628546	missense variant	-	NC_000009.12:g.130476950A>T	ExAC,gnomAD
ASS1	P00966	p.Gly230Ala	RCV000490502	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130479716G>C	ClinVar
ASS1	P00966	p.Gly230Ala	rs1085307056	missense variant	-	NC_000009.12:g.130479716G>C	TOPMed
ASS1	P00966	p.Gly230Arg	VAR_078403	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val231Ile	rs1397280585	missense variant	-	NC_000009.12:g.130479718G>A	TOPMed,gnomAD
ASS1	P00966	p.Val231Phe	rs1397280585	missense variant	-	NC_000009.12:g.130479718G>T	TOPMed,gnomAD
ASS1	P00966	p.Pro232Ser	rs1321789086	missense variant	-	NC_000009.12:g.130479721C>T	TOPMed,gnomAD
ASS1	P00966	p.Thr236Ala	rs745415384	missense variant	-	NC_000009.12:g.130479733A>G	ExAC,gnomAD
ASS1	P00966	p.Asn237Ser	rs565520844	missense variant	-	NC_000009.12:g.130479737A>G	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asn237Ile	VAR_078404	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val238Ile	rs368414392	missense variant	-	NC_000009.12:g.130479739G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp240His	rs1480656634	missense variant	-	NC_000009.12:g.130479745G>C	gnomAD
ASS1	P00966	p.Gly241Ser	rs1266978229	missense variant	-	NC_000009.12:g.130479748G>A	gnomAD
ASS1	P00966	p.Leu248Phe	rs1447491328	missense variant	-	NC_000009.12:g.130479771G>T	TOPMed,gnomAD
ASS1	P00966	p.Glu249Gly	rs748358908	missense variant	-	NC_000009.12:g.130479773A>G	ExAC,gnomAD
ASS1	P00966	p.Leu250Phe	rs772369785	missense variant	-	NC_000009.12:g.130479775C>T	ExAC,gnomAD
ASS1	P00966	p.Met252Thr	rs760818666	missense variant	-	NC_000009.12:g.130479782T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu256Lys	RCV000224618	missense variant	-	NC_000009.12:g.130479793G>A	ClinVar
ASS1	P00966	p.Glu256Lys	rs74923032	missense variant	-	NC_000009.12:g.130479793G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala258Thr	rs765748014	missense variant	-	NC_000009.12:g.130479799G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala258Val	RCV000669784	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130479800C>T	ClinVar
ASS1	P00966	p.Ala258Val	rs753078725	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130479800C>T	UniProt,dbSNP
ASS1	P00966	p.Ala258Val	VAR_078406	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130479800C>T	UniProt
ASS1	P00966	p.Ala258Val	rs753078725	missense variant	-	NC_000009.12:g.130479800C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala258Pro	VAR_078405	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly259Val	rs567807132	missense variant	-	NC_000009.12:g.130480387G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys260Arg	rs1193243645	missense variant	-	NC_000009.12:g.130480390A>G	TOPMed,gnomAD
ASS1	P00966	p.His261Arg	rs749349212	missense variant	-	NC_000009.12:g.130480393A>G	ExAC
ASS1	P00966	p.Gly262Ser	rs1254010338	missense variant	-	NC_000009.12:g.130480395G>A	gnomAD
ASS1	P00966	p.Val263Met	rs192838388	missense variant	-	NC_000009.12:g.130480398G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val263Met	RCV000185783	missense variant	-	NC_000009.12:g.130480398G>A	ClinVar
ASS1	P00966	p.Arg265Cys	rs148918985	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480404C>T	UniProt,dbSNP
ASS1	P00966	p.Arg265Cys	VAR_058349	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480404C>T	UniProt
ASS1	P00966	p.Arg265Cys	rs148918985	missense variant	-	NC_000009.12:g.130480404C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg265Cys	RCV000078025	missense variant	-	NC_000009.12:g.130480404C>T	ClinVar
ASS1	P00966	p.Arg265His	RCV000723811	missense variant	-	NC_000009.12:g.130480405G>A	ClinVar
ASS1	P00966	p.Arg265His	rs398123131	missense variant	-	NC_000009.12:g.130480405G>A	TOPMed,gnomAD
ASS1	P00966	p.Arg265His	rs398123131	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480405G>A	UniProt,dbSNP
ASS1	P00966	p.Arg265His	VAR_015900	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480405G>A	UniProt
ASS1	P00966	p.Ile266Val	rs377221825	missense variant	-	NC_000009.12:g.130480407A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp267Gly	rs1465173093	missense variant	-	NC_000009.12:g.130480411A>G	TOPMed
ASS1	P00966	p.Ile268Met	rs773540764	missense variant	-	NC_000009.12:g.130480415C>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val269Met	RCV000174211	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480416G>A	ClinVar
ASS1	P00966	p.Val269Met	RCV000412912	missense variant	-	NC_000009.12:g.130480416G>A	ClinVar
ASS1	P00966	p.Val269Met	rs370595480	missense variant	-	NC_000009.12:g.130480416G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val269Met	rs370595480	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480416G>A	UniProt,dbSNP
ASS1	P00966	p.Val269Met	VAR_015901	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480416G>A	UniProt
ASS1	P00966	p.Glu270Gln	RCV000673280	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480419G>C	ClinVar
ASS1	P00966	p.Glu270Gln	rs775163147	missense variant	-	NC_000009.12:g.130480419G>C	ExAC,gnomAD
ASS1	P00966	p.Glu270Gln	rs775163147	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480419G>C	UniProt,dbSNP
ASS1	P00966	p.Glu270Gln	VAR_016007	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480419G>C	UniProt
ASS1	P00966	p.Arg272Leu	rs768215008	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>T	UniProt,dbSNP
ASS1	P00966	p.Arg272Leu	VAR_078408	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>T	UniProt
ASS1	P00966	p.Arg272Leu	rs768215008	missense variant	-	NC_000009.12:g.130480426G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg272Cys	rs762387914	missense variant	-	NC_000009.12:g.130480425C>T	ExAC,gnomAD
ASS1	P00966	p.Arg272Cys	rs762387914	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480425C>T	UniProt,dbSNP
ASS1	P00966	p.Arg272Cys	VAR_000688	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480425C>T	UniProt
ASS1	P00966	p.Arg272His	rs768215008	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>A	UniProt,dbSNP
ASS1	P00966	p.Arg272His	VAR_078407	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>A	UniProt
ASS1	P00966	p.Arg272His	rs768215008	missense variant	-	NC_000009.12:g.130480426G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg272Cys	RCV000409266	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480425C>T	ClinVar
ASS1	P00966	p.Gly275Ter	RCV000673813	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480434G>T	ClinVar
ASS1	P00966	p.Gly275Ter	rs1554723625	stop gained	-	NC_000009.12:g.130480434G>T	-
ASS1	P00966	p.Gly275_Lys412del	VAR_078409	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Met276Thr	rs1365759588	missense variant	-	NC_000009.12:g.130480438T>C	TOPMed,gnomAD
ASS1	P00966	p.Lys277Thr	VAR_058350	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg279Gln	RCV000723467	missense variant	-	NC_000009.12:g.130480447G>A	ClinVar
ASS1	P00966	p.Arg279Ter	rs121908645	stop gained	-	NC_000009.12:g.130480446C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg279Gln	rs371265106	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480447G>A	UniProt,dbSNP
ASS1	P00966	p.Arg279Gln	VAR_016008	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480447G>A	UniProt
ASS1	P00966	p.Arg279Gln	rs371265106	missense variant	-	NC_000009.12:g.130480447G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg279Ter	RCV000006705	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480446C>T	ClinVar
ASS1	P00966	p.Arg279_Lys412del	VAR_078410	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly280Ser	rs767470664	missense variant	-	NC_000009.12:g.130480449G>A	ExAC,gnomAD
ASS1	P00966	p.Gly280Val	rs754062242	missense variant	-	NC_000009.12:g.130489333G>T	ExAC,gnomAD
ASS1	P00966	p.Gly280Ala	rs754062242	missense variant	-	NC_000009.12:g.130489333G>C	ExAC,gnomAD
ASS1	P00966	p.Gly280Val	RCV000543848	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489333G>T	ClinVar
ASS1	P00966	p.Gly280Arg	VAR_000689	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr282Ter	rs549085827	stop gained	-	NC_000009.12:g.130489340C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu283Lys	RCV000493705	missense variant	-	NC_000009.12:g.130489341G>A	ClinVar
ASS1	P00966	p.Glu283Lys	RCV000672066	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489341G>A	ClinVar
ASS1	P00966	p.Glu283Lys	rs765338121	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489341G>A	UniProt,dbSNP
ASS1	P00966	p.Glu283Lys	VAR_015902	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489341G>A	UniProt
ASS1	P00966	p.Glu283Lys	rs765338121	missense variant	-	NC_000009.12:g.130489341G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr284Ile	rs886039853	missense variant	-	NC_000009.12:g.130489345C>T	gnomAD
ASS1	P00966	p.Thr284Ile	RCV000256276	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489345C>T	ClinVar
ASS1	P00966	p.Pro285Gln	rs1313489293	missense variant	-	NC_000009.12:g.130489348C>A	TOPMed,gnomAD
ASS1	P00966	p.Pro285Ser	rs1414109637	missense variant	-	NC_000009.12:g.130489347C>T	gnomAD
ASS1	P00966	p.Gly287Ser	rs1237139147	missense variant	-	NC_000009.12:g.130489353G>A	gnomAD
ASS1	P00966	p.Leu290Pro	VAR_078411	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr291Ser	VAR_058352	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.His292Tyr	rs1043724459	missense variant	-	NC_000009.12:g.130489368C>T	TOPMed
ASS1	P00966	p.Ala293Val	rs1433075371	missense variant	-	NC_000009.12:g.130489372C>T	TOPMed
ASS1	P00966	p.Ala293Thr	rs1225791024	missense variant	-	NC_000009.12:g.130489371G>A	gnomAD
ASS1	P00966	p.Leu295Ter	rs1278663122	stop gained	-	NC_000009.12:g.130489378T>G	gnomAD
ASS1	P00966	p.Asp296Val	rs752042210	missense variant	-	NC_000009.12:g.130489381A>T	ExAC,gnomAD
ASS1	P00966	p.Asp296Gly	VAR_058353	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile297Thr	rs1257594301	missense variant	-	NC_000009.12:g.130489384T>C	TOPMed,gnomAD
ASS1	P00966	p.Ile297Val	rs757629975	missense variant	-	NC_000009.12:g.130489383A>G	ExAC,gnomAD
ASS1	P00966	p.Glu298Ter	RCV000169181	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489386del	ClinVar
ASS1	P00966	p.Glu298Asp	rs201419685	missense variant	-	NC_000009.12:g.130489388G>C	ExAC,gnomAD
ASS1	P00966	p.Glu298Gly	rs372061654	missense variant	-	NC_000009.12:g.130489387A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu298Lys	rs1372482894	missense variant	-	NC_000009.12:g.130489386G>A	TOPMed
ASS1	P00966	p.Glu298Gly	RCV000078029	missense variant	-	NC_000009.12:g.130489387A>G	ClinVar
ASS1	P00966	p.Ala299Asp	rs768394647	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489390C>A	UniProt,dbSNP
ASS1	P00966	p.Ala299Asp	VAR_078412	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489390C>A	UniProt
ASS1	P00966	p.Ala299Asp	rs768394647	missense variant	-	NC_000009.12:g.130489390C>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr301Ala	rs778658154	missense variant	-	NC_000009.12:g.130489395A>G	ExAC,gnomAD
ASS1	P00966	p.Met302Val	VAR_058354	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg304Trp	RCV000723845	missense variant	-	NC_000009.12:g.130489404C>T	ClinVar
ASS1	P00966	p.Arg304Trp	RCV000006702	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489404C>T	ClinVar
ASS1	P00966	p.Arg304Pro	rs771640767	missense variant	-	NC_000009.12:g.130489405G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg304Trp	rs121908642	missense variant	-	NC_000009.12:g.130489404C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg304Trp	rs121908642	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489404C>T	UniProt,dbSNP
ASS1	P00966	p.Arg304Trp	VAR_000690	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489404C>T	UniProt
ASS1	P00966	p.Arg304Gln	rs771640767	missense variant	-	NC_000009.12:g.130489405G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu305Val	RCV000078030	missense variant	-	NC_000009.12:g.130489408A>T	ClinVar
ASS1	P00966	p.Glu305Val	rs398123132	missense variant	-	NC_000009.12:g.130489408A>T	-
ASS1	P00966	p.Val306Gly	VAR_078413	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg307His	RCV000727599	missense variant	-	NC_000009.12:g.130489414G>A	ClinVar
ASS1	P00966	p.Arg307Cys	RCV000255358	missense variant	-	NC_000009.12:g.130489413C>T	ClinVar
ASS1	P00966	p.Arg307Cys	rs183276875	missense variant	-	NC_000009.12:g.130489413C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg307Cys	rs183276875	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489413C>T	UniProt,dbSNP
ASS1	P00966	p.Arg307Cys	VAR_058355	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489413C>T	UniProt
ASS1	P00966	p.Arg307His	rs571576756	missense variant	-	NC_000009.12:g.130489414G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg307His	RCV000633520	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489414G>A	ClinVar
ASS1	P00966	p.Lys308Asn	rs776452362	missense variant	-	NC_000009.12:g.130489418A>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys310Gln	rs121908648	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489422A>C	UniProt,dbSNP
ASS1	P00966	p.Lys310Gln	VAR_016009	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489422A>C	UniProt
ASS1	P00966	p.Lys310Gln	rs121908648	missense variant	-	NC_000009.12:g.130489422A>C	ExAC,gnomAD
ASS1	P00966	p.Lys310Gln	RCV000006711	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489422A>C	ClinVar
ASS1	P00966	p.Lys310Arg	rs199751308	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489423A>G	UniProt,dbSNP
ASS1	P00966	p.Lys310Arg	VAR_015903	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489423A>G	UniProt
ASS1	P00966	p.Lys310Arg	rs199751308	missense variant	-	NC_000009.12:g.130489423A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys310Arg	RCV000286574	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489423A>G	ClinVar
ASS1	P00966	p.Gln311Arg	rs999685778	missense variant	-	NC_000009.12:g.130489426A>G	TOPMed,gnomAD
ASS1	P00966	p.Gln311Ter	RCV000668096	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489425C>T	ClinVar
ASS1	P00966	p.Gln311Ter	rs1301613270	stop gained	-	NC_000009.12:g.130489425C>T	gnomAD
ASS1	P00966	p.Gln311Glu	rs1301613270	missense variant	-	NC_000009.12:g.130489425C>G	gnomAD
ASS1	P00966	p.Gln311_Lys412del	VAR_078414	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly312Val	rs763028919	missense variant	-	NC_000009.12:g.130489429G>T	ExAC,gnomAD
ASS1	P00966	p.Phe317Ter	RCV000674984	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489445del	ClinVar
ASS1	P00966	p.Val321Met	RCV000672058	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489455G>A	ClinVar
ASS1	P00966	p.Val321Met	rs727503813	missense variant	-	NC_000009.12:g.130489455G>A	-
ASS1	P00966	p.Val321Met	RCV000152807	missense variant	-	NC_000009.12:g.130489455G>A	ClinVar
ASS1	P00966	p.Tyr322Cys	rs373473841	missense variant	-	NC_000009.12:g.130489459A>G	ESP,ExAC,gnomAD
ASS1	P00966	p.Thr323Ile	rs1250895424	missense variant	-	NC_000009.12:g.130489462C>T	TOPMed,gnomAD
ASS1	P00966	p.Gly324Ser	rs121908639	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489464G>A	UniProt,dbSNP
ASS1	P00966	p.Gly324Ser	VAR_000691	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489464G>A	UniProt
ASS1	P00966	p.Gly324Ser	rs121908639	missense variant	-	NC_000009.12:g.130489464G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly324Val	RCV000557764	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494867G>T	ClinVar
ASS1	P00966	p.Gly324Val	rs1554725034	missense variant	-	NC_000009.12:g.130494867G>T	-
ASS1	P00966	p.Gly324Cys	rs121908639	missense variant	-	NC_000009.12:g.130489464G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly324Ser	RCV000006699	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489464G>A	ClinVar
ASS1	P00966	p.Gly324Val	VAR_058356	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Trp326Ter	RCV000411785	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494874del	ClinVar
ASS1	P00966	p.Ser328Asn	rs1224833895	missense variant	-	NC_000009.12:g.130494879G>A	TOPMed
ASS1	P00966	p.Cys331Arg	rs1055308437	missense variant	-	NC_000009.12:g.130494887T>C	TOPMed
ASS1	P00966	p.Glu332Gly	rs1484802218	missense variant	-	NC_000009.12:g.130494891A>G	gnomAD
ASS1	P00966	p.Glu332Lys	rs1283242027	missense variant	-	NC_000009.12:g.130494890G>A	TOPMed
ASS1	P00966	p.Phe333Val	rs756665874	missense variant	-	NC_000009.12:g.130494893T>G	ExAC,gnomAD
ASS1	P00966	p.Val334Ala	rs1434881256	missense variant	-	NC_000009.12:g.130494897T>C	TOPMed
ASS1	P00966	p.Arg335His	rs555388438	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494900G>A	UniProt,dbSNP
ASS1	P00966	p.Arg335His	VAR_078416	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494900G>A	UniProt
ASS1	P00966	p.Arg335His	rs555388438	missense variant	-	NC_000009.12:g.130494900G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg335Cys	RCV000633519	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494899C>T	ClinVar
ASS1	P00966	p.Arg335Cys	rs373514077	missense variant	-	NC_000009.12:g.130494899C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg335His	RCV000670744	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494900G>A	ClinVar
ASS1	P00966	p.Cys337Gly	rs1554725043	missense variant	-	NC_000009.12:g.130494905T>G	-
ASS1	P00966	p.Cys337Gly	RCV000633524	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494905T>G	ClinVar
ASS1	P00966	p.Cys337Arg	VAR_078417	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile338Val	rs769634647	missense variant	-	NC_000009.12:g.130494908A>G	ExAC,gnomAD
ASS1	P00966	p.Ile338Phe	rs769634647	missense variant	-	NC_000009.12:g.130494908A>T	ExAC,gnomAD
ASS1	P00966	p.Ala339Thr	RCV000377584	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494911G>A	ClinVar
ASS1	P00966	p.Ala339Thr	rs145100866	missense variant	-	NC_000009.12:g.130494911G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys340Met	rs538040998	missense variant	-	NC_000009.12:g.130494915A>T	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Lys340Arg	rs538040998	missense variant	-	NC_000009.12:g.130494915A>G	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Ser341Phe	VAR_058357	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gln342Arg	RCV000546005	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494921A>G	ClinVar
ASS1	P00966	p.Gln342Arg	rs1554725061	missense variant	-	NC_000009.12:g.130494921A>G	-
ASS1	P00966	p.Arg344Ter	RCV000169239	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494926C>T	ClinVar
ASS1	P00966	p.Arg344Ter	rs786204537	stop gained	-	NC_000009.12:g.130494926C>T	gnomAD
ASS1	P00966	p.Arg344Gln	rs999411828	missense variant	-	NC_000009.12:g.130494927G>A	TOPMed
ASS1	P00966	p.Arg344_Lys412del	VAR_078418	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val345Gly	VAR_058358	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Glu346Asp	rs1289852479	missense variant	-	NC_000009.12:g.130494934A>C	TOPMed,gnomAD
ASS1	P00966	p.Gly347Arg	VAR_058359	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Lys348Glu	rs1428619789	missense variant	-	NC_000009.12:g.130494938A>G	TOPMed
ASS1	P00966	p.Val349Met	rs1174700771	missense variant	-	NC_000009.12:g.130494941G>A	gnomAD
ASS1	P00966	p.Val351Met	rs773909247	missense variant	-	NC_000009.12:g.130494947G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val353Ile	rs754285392	missense variant	-	NC_000009.12:g.130494953G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys355Ter	RCV000306977	frameshift	-	NC_000009.12:g.130494960del	ClinVar
ASS1	P00966	p.Gly356Val	RCV000672036	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494963G>T	ClinVar
ASS1	P00966	p.Gly356Asp	rs1261110148	missense variant	-	NC_000009.12:g.130494963G>A	gnomAD
ASS1	P00966	p.Gly356Val	rs1261110148	missense variant	-	NC_000009.12:g.130494963G>T	gnomAD
ASS1	P00966	p.Gly356Val	VAR_078419	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gln357Ter	rs756859126	stop gained	-	NC_000009.12:g.130494965C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln357Ter	RCV000633522	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494965C>T	ClinVar
ASS1	P00966	p.Gln357_Lys412del	VAR_078420	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val358Met	rs780667165	missense variant	-	NC_000009.12:g.130494968G>A	ExAC,gnomAD
ASS1	P00966	p.Val358Leu	rs780667165	missense variant	-	NC_000009.12:g.130494968G>T	ExAC,gnomAD
ASS1	P00966	p.Tyr359Asp	RCV000690358	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494971T>G	ClinVar
ASS1	P00966	p.Tyr359His	rs1262020902	missense variant	-	NC_000009.12:g.130494971T>C	TOPMed
ASS1	P00966	p.Tyr359Cys	rs1486068351	missense variant	-	NC_000009.12:g.130494972A>G	gnomAD
ASS1	P00966	p.Tyr359Asp	VAR_058360	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile360Asn	rs1248643636	missense variant	-	NC_000009.12:g.130494975T>A	gnomAD
ASS1	P00966	p.Leu361Arg	rs1160216159	missense variant	-	NC_000009.12:g.130494978T>G	gnomAD
ASS1	P00966	p.Gly362Val	RCV000256322	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494981G>T	ClinVar
ASS1	P00966	p.Gly362Ser	rs779930497	missense variant	-	NC_000009.12:g.130494980G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly362Val	rs121908647	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494981G>T	UniProt,dbSNP
ASS1	P00966	p.Gly362Val	VAR_015904	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494981G>T	UniProt
ASS1	P00966	p.Gly362Val	rs121908647	missense variant	-	NC_000009.12:g.130494981G>T	gnomAD
ASS1	P00966	p.Gly362Val	RCV000418697	missense variant	-	NC_000009.12:g.130494981G>T	ClinVar
ASS1	P00966	p.Gly362Val	RCV000006708	missense variant	Citrullinemia, mild	NC_000009.12:g.130494981G>T	ClinVar
ASS1	P00966	p.Arg363Trp	RCV000185787	missense variant	-	NC_000009.12:g.130494983C>T	ClinVar
ASS1	P00966	p.Arg363Trp	RCV000006700	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494983C>T	ClinVar
ASS1	P00966	p.Arg363Gln	RCV000633525	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494984G>A	ClinVar
ASS1	P00966	p.Arg363Gln	rs771937610	missense variant	-	NC_000009.12:g.130494984G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg363Trp	rs121908640	missense variant	-	NC_000009.12:g.130494983C>T	TOPMed,gnomAD
ASS1	P00966	p.Arg363Trp	rs121908640	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494983C>T	UniProt,dbSNP
ASS1	P00966	p.Arg363Trp	VAR_000693	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494983C>T	UniProt
ASS1	P00966	p.Arg363Leu	VAR_000692	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg363Gly	VAR_016010	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Leu367Pro	rs1370653471	missense variant	-	NC_000009.12:g.130494996T>C	gnomAD
ASS1	P00966	p.Glu372Asp	rs1355666688	missense variant	-	NC_000009.12:g.130495012G>T	gnomAD
ASS1	P00966	p.Glu373Ter	rs1453708640	stop gained	-	NC_000009.12:g.130495013G>T	TOPMed
ASS1	P00966	p.Met377Ile	rs1361316705	missense variant	-	NC_000009.12:g.130499508G>A	gnomAD
ASS1	P00966	p.Asn378Lys	rs140715869	missense variant	-	NC_000009.12:g.130499511C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val379Met	rs78549067	missense variant	-	NC_000009.12:g.130499512G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val379Leu	rs78549067	missense variant	-	NC_000009.12:g.130499512G>C	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln380Ter	RCV000169103	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499515C>T	ClinVar
ASS1	P00966	p.Gln380Ter	RCV000672915	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499516del	ClinVar
ASS1	P00966	p.Gln380His	rs746347893	missense variant	-	NC_000009.12:g.130499517G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln380Ter	rs786204460	stop gained	-	NC_000009.12:g.130499515C>T	-
ASS1	P00966	p.Gln380_Lys412del	VAR_078421	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Asp382Val	rs770243951	missense variant	-	NC_000009.12:g.130499522A>T	ExAC
ASS1	P00966	p.Pro385Ala	rs775691183	missense variant	-	NC_000009.12:g.130499530C>G	ExAC,gnomAD
ASS1	P00966	p.Thr386Pro	rs376164698	missense variant	-	NC_000009.12:g.130499533A>C	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr386Ile	rs1486493080	missense variant	-	NC_000009.12:g.130499534C>T	TOPMed,gnomAD
ASS1	P00966	p.Thr386Ala	rs376164698	missense variant	-	NC_000009.12:g.130499533A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr389Ile	rs1474017319	missense variant	-	NC_000009.12:g.130499543C>T	gnomAD
ASS1	P00966	p.Thr389Ile	rs1474017319	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499543C>T	UniProt,dbSNP
ASS1	P00966	p.Thr389Ile	VAR_016012	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499543C>T	UniProt
ASS1	P00966	p.Thr389Ala	rs145288815	missense variant	-	NC_000009.12:g.130499542A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr389Pro	VAR_078422	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly390Arg	RCV000006701	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499545G>A	ClinVar
ASS1	P00966	p.Gly390Trp	rs121908641	missense variant	-	NC_000009.12:g.130499545G>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly390Glu	rs753858624	missense variant	-	NC_000009.12:g.130499546G>A	ExAC,gnomAD
ASS1	P00966	p.Gly390Arg	rs121908641	missense variant	-	NC_000009.12:g.130499545G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly390Arg	rs121908641	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499545G>A	UniProt,dbSNP
ASS1	P00966	p.Gly390Arg	VAR_000694	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499545G>A	UniProt
ASS1	P00966	p.Phe391Leu	rs1554725724	missense variant	-	NC_000009.12:g.130499550C>A	-
ASS1	P00966	p.Phe391Leu	RCV000497925	missense variant	-	NC_000009.12:g.130499550C>A	ClinVar
ASS1	P00966	p.Asn393Lys	rs754836732	missense variant	-	NC_000009.12:g.130499556C>G	ExAC,gnomAD
ASS1	P00966	p.Ile394Met	rs1011135762	missense variant	-	NC_000009.12:g.130499559C>G	TOPMed
ASS1	P00966	p.Ile394Val	rs1301940406	missense variant	-	NC_000009.12:g.130499557A>G	TOPMed
ASS1	P00966	p.Asn395Ser	rs1021193921	missense variant	-	NC_000009.12:g.130499561A>G	TOPMed,gnomAD
ASS1	P00966	p.Ser396Thr	rs1419938185	missense variant	-	NC_000009.12:g.130499563T>A	TOPMed
ASS1	P00966	p.Arg398Ser	rs1437068422	missense variant	-	NC_000009.12:g.130500976G>C	TOPMed
ASS1	P00966	p.Tyr402Cys	rs1347470516	missense variant	-	NC_000009.12:g.130500987A>G	TOPMed,gnomAD
ASS1	P00966	p.His403Arg	rs964964749	missense variant	-	NC_000009.12:g.130500990A>G	TOPMed,gnomAD
ASS1	P00966	p.Arg404His	rs752612525	missense variant	-	NC_000009.12:g.130500993G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg404Cys	rs765099183	missense variant	-	NC_000009.12:g.130500992C>T	ExAC,gnomAD
ASS1	P00966	p.Leu405Pro	rs1242919093	missense variant	-	NC_000009.12:g.130500996T>C	gnomAD
ASS1	P00966	p.Lys408Asn	rs758336855	missense variant	-	NC_000009.12:g.130501006G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ter413Gln	rs763970075	stop lost	-	NC_000009.12:g.130501019T>C	ExAC,gnomAD
ASS1	P00966	p.Ter413Tyr	rs1243083380	stop lost	-	NC_000009.12:g.130501021G>C	TOPMed
ASS1	P00966	p.Met1Ile	RCV000411464	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452231G>A	ClinVar
ASS1	P00966	p.Met1Val	RCV000665063	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452229A>G	ClinVar
ASS1	P00966	p.Ser2Thr	rs200379004	missense variant	-	NC_000009.12:g.130452232T>A	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Gly5Ala	rs201700775	missense variant	-	NC_000009.12:g.130452242G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly5Val	rs201700775	missense variant	-	NC_000009.12:g.130452242G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser6Ala	rs757913342	missense variant	-	NC_000009.12:g.130452244T>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser6Pro	rs757913342	missense variant	-	NC_000009.12:g.130452244T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val7Met	rs149938546	missense variant	-	NC_000009.12:g.130452247G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Leu9Val	rs144999474	missense variant	-	NC_000009.12:g.130452253C>G	ESP,ExAC
ASS1	P00966	p.Ser12Gly	rs1283372037	missense variant	-	NC_000009.12:g.130452262A>G	TOPMed
ASS1	P00966	p.Gly14Ser	rs121908636	missense variant	-	NC_000009.12:g.130452268G>A	ExAC,gnomAD
ASS1	P00966	p.Gly14Ser	rs121908636	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452268G>A	UniProt,dbSNP
ASS1	P00966	p.Gly14Ser	VAR_000681	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452268G>A	UniProt
ASS1	P00966	p.Gly14Ser	RCV000006696	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452268G>A	ClinVar
ASS1	P00966	p.Ser18Leu	RCV000006703	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130452281C>T	ClinVar
ASS1	P00966	p.Ser18Leu	rs121908643	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452281C>T	UniProt,dbSNP
ASS1	P00966	p.Ser18Leu	VAR_000682	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130452281C>T	UniProt
ASS1	P00966	p.Ser18Leu	rs121908643	missense variant	-	NC_000009.12:g.130452281C>T	ExAC,gnomAD
ASS1	P00966	p.Cys19Arg	VAR_015891	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val22Gly	rs912037125	missense variant	-	NC_000009.12:g.130452293T>G	TOPMed,gnomAD
ASS1	P00966	p.Val22Met	rs762279472	missense variant	-	NC_000009.12:g.130452292G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val22Leu	rs762279472	missense variant	-	NC_000009.12:g.130452292G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val22Leu	rs762279472	missense variant	-	NC_000009.12:g.130452292G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Trp23Ter	rs1175810875	stop gained	-	NC_000009.12:g.130452297G>A	TOPMed
ASS1	P00966	p.Glu26Lys	rs766668660	missense variant	-	NC_000009.12:g.130452304G>A	ExAC,gnomAD
ASS1	P00966	p.Gln27Lys	rs543339767	missense variant	-	NC_000009.12:g.130452307C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln27_Lys412del	VAR_078387	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr29Cys	rs1457270102	missense variant	-	NC_000009.12:g.130452314A>G	TOPMed,gnomAD
ASS1	P00966	p.Asp30Tyr	rs758038108	missense variant	-	NC_000009.12:g.130452316G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp30Asn	rs758038108	missense variant	-	NC_000009.12:g.130452316G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val31Ile	rs374444560	missense variant	-	NC_000009.12:g.130452319G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ile32Thr	rs1313069512	missense variant	-	NC_000009.12:g.130452323T>C	gnomAD
ASS1	P00966	p.Ile32Val	rs142221856	missense variant	-	NC_000009.12:g.130452322A>G	ESP,TOPMed
ASS1	P00966	p.Ala36Asp	rs1479796639	missense variant	-	NC_000009.12:g.130454306C>A	gnomAD
ASS1	P00966	p.Asn37Ser	rs1412223944	missense variant	-	NC_000009.12:g.130454309A>G	TOPMed
ASS1	P00966	p.Ile38Val	rs1176198275	missense variant	-	NC_000009.12:g.130454311A>G	gnomAD
ASS1	P00966	p.Gln40His	rs751131164	missense variant	-	NC_000009.12:g.130454319G>C	ExAC
ASS1	P00966	p.Gln40Leu	VAR_058337	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Lys41Ter	RCV000633523	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454319del	ClinVar
ASS1	P00966	p.Glu42Lys	rs1460136199	missense variant	-	NC_000009.12:g.130454323G>A	gnomAD
ASS1	P00966	p.Asp43His	rs1167026676	missense variant	-	NC_000009.12:g.130454326G>C	gnomAD
ASS1	P00966	p.Glu45Lys	rs766880501	missense variant	-	NC_000009.12:g.130454332G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala47Val	rs1301161301	missense variant	-	NC_000009.12:g.130454339C>T	gnomAD
ASS1	P00966	p.Arg48Gly	rs374695792	missense variant	-	NC_000009.12:g.130454341A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala51Thr	rs142350255	missense variant	-	NC_000009.12:g.130454350G>A	ESP,ExAC,TOPMed
ASS1	P00966	p.Leu54Val	RCV000701082	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454359C>G	ClinVar
ASS1	P00966	p.Ala56Thr	rs773150312	missense variant	-	NC_000009.12:g.130454365G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys57Glu	rs779222693	missense variant	-	NC_000009.12:g.130454368A>G	ExAC,gnomAD
ASS1	P00966	p.Val59Met	rs1390986372	missense variant	-	NC_000009.12:g.130458401G>A	gnomAD
ASS1	P00966	p.Val59Ter	RCV000668829	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130454372dup	ClinVar
ASS1	P00966	p.Phe60Cys	rs746316364	missense variant	-	NC_000009.12:g.130458405T>G	ExAC,gnomAD
ASS1	P00966	p.Ile61Thr	rs769314825	missense variant	-	NC_000009.12:g.130458408T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ile61Val	rs1423131094	missense variant	-	NC_000009.12:g.130458407A>G	TOPMed
ASS1	P00966	p.Glu62Lys	rs1230404130	missense variant	-	NC_000009.12:g.130458410G>A	TOPMed,gnomAD
ASS1	P00966	p.Val64Ile	rs556297791	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458416G>A	UniProt,dbSNP
ASS1	P00966	p.Val64Ile	VAR_078388	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458416G>A	UniProt
ASS1	P00966	p.Val64Ile	rs556297791	missense variant	-	NC_000009.12:g.130458416G>A	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Val64Ile	RCV000669936	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458416G>A	ClinVar
ASS1	P00966	p.Glu67Lys	rs1257036291	missense variant	-	NC_000009.12:g.130458425G>A	TOPMed
ASS1	P00966	p.Val69Ala	rs771594651	missense variant	-	NC_000009.12:g.130458432T>C	ExAC,gnomAD
ASS1	P00966	p.Val69Ala	rs771594651	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458432T>C	UniProt,dbSNP
ASS1	P00966	p.Val69Ala	VAR_016013	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458432T>C	UniProt
ASS1	P00966	p.Phe72Leu	rs1554982824	missense variant	-	NC_000009.12:g.130458442C>G	-
ASS1	P00966	p.Phe72Leu	RCV000666531	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458442C>G	ClinVar
ASS1	P00966	p.Pro75Leu	rs760286858	missense variant	-	NC_000009.12:g.130458450C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala76Ter	RCV000411227	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458452del	ClinVar
ASS1	P00966	p.Ile77Phe	rs776718909	missense variant	-	NC_000009.12:g.130458455A>T	ExAC,gnomAD
ASS1	P00966	p.Ser79Pro	VAR_058338	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala81Thr	RCV000303779	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458467G>A	ClinVar
ASS1	P00966	p.Ala81Val	rs764329260	missense variant	-	NC_000009.12:g.130458468C>T	ExAC,gnomAD
ASS1	P00966	p.Ala81Thr	rs141640176	missense variant	-	NC_000009.12:g.130458467G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Leu82Pro	rs559043503	missense variant	-	NC_000009.12:g.130458471T>C	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr83His	rs753659761	missense variant	-	NC_000009.12:g.130458473T>C	ExAC,gnomAD
ASS1	P00966	p.Glu84Lys	rs1554982834	missense variant	-	NC_000009.12:g.130458476G>A	-
ASS1	P00966	p.Glu84Lys	RCV000533818	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458476G>A	ClinVar
ASS1	P00966	p.Arg86His	RCV000256238	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458483G>A	ClinVar
ASS1	P00966	p.Arg86His	rs575001023	missense variant	-	NC_000009.12:g.130458483G>A	ExAC,gnomAD
ASS1	P00966	p.Arg86Cys	rs121908644	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458482C>T	UniProt,dbSNP
ASS1	P00966	p.Arg86Cys	VAR_000683	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458482C>T	UniProt
ASS1	P00966	p.Arg86Cys	rs121908644	missense variant	-	NC_000009.12:g.130458482C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg86Cys	RCV000006704	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458482C>T	ClinVar
ASS1	P00966	p.Tyr87Phe	rs780509094	missense variant	-	NC_000009.12:g.130458486A>T	ExAC,gnomAD
ASS1	P00966	p.Leu88Ile	RCV000527150	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458488C>A	ClinVar
ASS1	P00966	p.Leu88Ile	rs895822620	missense variant	-	NC_000009.12:g.130458488C>A	TOPMed,gnomAD
ASS1	P00966	p.Leu88Phe	rs895822620	missense variant	-	NC_000009.12:g.130458488C>T	TOPMed,gnomAD
ASS1	P00966	p.Leu89Val	rs1277427690	missense variant	-	NC_000009.12:g.130458491C>G	gnomAD
ASS1	P00966	p.Gly90Asp	rs1422867920	missense variant	-	NC_000009.12:g.130458495G>A	TOPMed,gnomAD
ASS1	P00966	p.Thr91Pro	rs769018733	missense variant	-	NC_000009.12:g.130458497A>C	ExAC,gnomAD
ASS1	P00966	p.Thr91Pro	rs769018733	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458497A>C	UniProt,dbSNP
ASS1	P00966	p.Thr91Pro	VAR_078389	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458497A>C	UniProt
ASS1	P00966	p.Ser92Phe	rs773015306	missense variant	-	NC_000009.12:g.130458501C>T	ExAC,gnomAD
ASS1	P00966	p.Arg95Ser	VAR_015893	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Pro96Ser	VAR_015894	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Pro96Leu	VAR_078390	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Pro96His	VAR_058339	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Cys97Ter	RCV000670815	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458517C>A	ClinVar
ASS1	P00966	p.Cys97Ser	rs1230950318	missense variant	-	NC_000009.12:g.130458516G>C	gnomAD
ASS1	P00966	p.Cys97Ter	rs1554982847	stop gained	-	NC_000009.12:g.130458517C>A	-
ASS1	P00966	p.Cys97_Lys412del	VAR_078391	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile98Val	rs746597456	missense variant	-	NC_000009.12:g.130458518A>G	ExAC,gnomAD
ASS1	P00966	p.Ala99Thr	rs150466363	missense variant	-	NC_000009.12:g.130458521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg100His	RCV000508525	missense variant	-	NC_000009.12:g.130458525G>A	ClinVar
ASS1	P00966	p.Arg100His	RCV000669776	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458525G>A	ClinVar
ASS1	P00966	p.Arg100Cys	RCV000669448	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458524C>T	ClinVar
ASS1	P00966	p.Arg100His	rs138279074	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458525G>A	UniProt,dbSNP
ASS1	P00966	p.Arg100His	VAR_078393	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458525G>A	UniProt
ASS1	P00966	p.Arg100His	rs138279074	missense variant	-	NC_000009.12:g.130458525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg100Cys	rs370695114	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458524C>T	UniProt,dbSNP
ASS1	P00966	p.Arg100Cys	VAR_078392	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458524C>T	UniProt
ASS1	P00966	p.Arg100Cys	rs370695114	missense variant	-	NC_000009.12:g.130458524C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala106Thr	rs762677536	missense variant	-	NC_000009.12:g.130458542G>A	ExAC,gnomAD
ASS1	P00966	p.Ala106Gly	rs763817750	missense variant	-	NC_000009.12:g.130458543C>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln107Arg	rs149602848	missense variant	-	NC_000009.12:g.130458546A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln107Ter	RCV000695591	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458545del	ClinVar
ASS1	P00966	p.Arg108Trp	rs143405567	missense variant	-	NC_000009.12:g.130458548C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg108Leu	RCV000436562	missense variant	-	NC_000009.12:g.130458549G>T	ClinVar
ASS1	P00966	p.Arg108Gln	rs35269064	missense variant	-	NC_000009.12:g.130458549G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg108Leu	rs35269064	missense variant	-	NC_000009.12:g.130458549G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg108Leu	rs35269064	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458549G>T	UniProt,dbSNP
ASS1	P00966	p.Arg108Leu	VAR_016014	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458549G>T	UniProt
ASS1	P00966	p.Glu109Lys	rs371907747	missense variant	-	NC_000009.12:g.130458551G>A	ESP,ExAC,gnomAD
ASS1	P00966	p.Glu109Val	rs962458695	missense variant	-	NC_000009.12:g.130458552A>T	TOPMed
ASS1	P00966	p.Ala111Asp	VAR_078394	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr113Cys	rs146176455	missense variant	-	NC_000009.12:g.130458564A>G	ESP,ExAC,gnomAD
ASS1	P00966	p.Val114Met	rs779412497	missense variant	-	NC_000009.12:g.130458566G>A	ExAC,gnomAD
ASS1	P00966	p.Gly117Ser	RCV000671967	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130458575G>A	ClinVar
ASS1	P00966	p.Gly117Ser	rs770944877	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458575G>A	UniProt,dbSNP
ASS1	P00966	p.Gly117Ser	VAR_015895	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458575G>A	UniProt
ASS1	P00966	p.Gly117Ser	rs770944877	missense variant	-	NC_000009.12:g.130458575G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly117Val	rs745404241	missense variant	-	NC_000009.12:g.130458576G>T	ExAC,gnomAD
ASS1	P00966	p.Gly117Cys	VAR_078395	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly117Asp	VAR_015896	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala118Thr	rs775305020	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458578G>A	UniProt,dbSNP
ASS1	P00966	p.Ala118Thr	VAR_000684	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130458578G>A	UniProt
ASS1	P00966	p.Ala118Thr	rs775305020	missense variant	-	NC_000009.12:g.130458578G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr119Pro	rs794727696	missense variant	-	NC_000009.12:g.130458581A>C	-
ASS1	P00966	p.Thr119Pro	RCV000178706	missense variant	-	NC_000009.12:g.130458581A>C	ClinVar
ASS1	P00966	p.Thr119Ile	VAR_016015	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Asn123Lys	rs761616623	missense variant	-	NC_000009.12:g.130464116C>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp124Asn	rs936192871	missense variant	-	NC_000009.12:g.130464117G>A	gnomAD
ASS1	P00966	p.Asp124Asn	RCV000552381	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464117G>A	ClinVar
ASS1	P00966	p.Arg127Leu	RCV000665366	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464127G>T	ClinVar
ASS1	P00966	p.Arg127Gln	RCV000761475	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464127G>A	ClinVar
ASS1	P00966	p.Arg127Trp	RCV000668864	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464126C>T	ClinVar
ASS1	P00966	p.Arg127Gln	rs201623252	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130464127G>A	UniProt,dbSNP
ASS1	P00966	p.Arg127Gln	VAR_058341	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130464127G>A	UniProt
ASS1	P00966	p.Arg127Gln	rs201623252	missense variant	-	NC_000009.12:g.130464127G>A	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Arg127Leu	rs201623252	missense variant	-	NC_000009.12:g.130464127G>T	UniProt,dbSNP
ASS1	P00966	p.Arg127Leu	VAR_078396	missense variant	-	NC_000009.12:g.130464127G>T	UniProt
ASS1	P00966	p.Arg127Leu	rs201623252	missense variant	-	NC_000009.12:g.130464127G>T	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Arg127Trp	rs771794639	missense variant	-	NC_000009.12:g.130464126C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Phe128Leu	rs1226547650	missense variant	-	NC_000009.12:g.130464131T>G	gnomAD
ASS1	P00966	p.Ser131Gly	rs1465454336	missense variant	-	NC_000009.12:g.130464138A>G	gnomAD
ASS1	P00966	p.Ala136Ser	rs776754303	missense variant	-	NC_000009.12:g.130464153G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala136Val	rs760164246	missense variant	-	NC_000009.12:g.130464154C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln138Ter	RCV000665132	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464159dup	ClinVar
ASS1	P00966	p.Gln138Ter	rs1057516339	stop gained	-	NC_000009.12:g.130464159C>T	-
ASS1	P00966	p.Gln138Ter	RCV000409826	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130464159C>T	ClinVar
ASS1	P00966	p.Gln138_Lys412del	VAR_078397	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile139Met	rs1401148533	missense variant	-	NC_000009.12:g.130464164A>G	TOPMed
ASS1	P00966	p.Val141Gly	rs1184442048	missense variant	-	NC_000009.12:g.130466726T>G	TOPMed
ASS1	P00966	p.Val141Gly	rs1184442048	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466726T>G	UniProt,dbSNP
ASS1	P00966	p.Val141Gly	VAR_072792	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466726T>G	UniProt
ASS1	P00966	p.Pro144Ser	rs769831651	missense variant	-	NC_000009.12:g.130466734C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg146Lys	rs1015400282	missense variant	-	NC_000009.12:g.130466741G>A	-
ASS1	P00966	p.Pro148Ser	rs369389991	missense variant	-	NC_000009.12:g.130466746C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu149Lys	rs1251662364	missense variant	-	NC_000009.12:g.130466749G>A	TOPMed
ASS1	P00966	p.Phe150Ter	RCV000169436	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466754_130466755del	ClinVar
ASS1	P00966	p.Tyr151Ser	rs754486641	missense variant	-	NC_000009.12:g.130466756A>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg153Gln	RCV000364188	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466762G>A	ClinVar
ASS1	P00966	p.Arg153Trp	rs576636333	missense variant	-	NC_000009.12:g.130466761C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg153Leu	rs373239430	missense variant	-	NC_000009.12:g.130466762G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg153Gln	rs373239430	missense variant	-	NC_000009.12:g.130466762G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Phe154Ter	RCV000780873	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130466764_130466771del	ClinVar
ASS1	P00966	p.Lys155Glu	rs746855701	missense variant	-	NC_000009.12:g.130466767A>G	ExAC,gnomAD
ASS1	P00966	p.Lys155Arg	rs960633659	missense variant	-	NC_000009.12:g.130466768A>G	TOPMed
ASS1	P00966	p.Arg157Cys	rs770585183	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466773C>T	UniProt,dbSNP
ASS1	P00966	p.Arg157Cys	VAR_015897	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466773C>T	UniProt
ASS1	P00966	p.Arg157Cys	rs770585183	missense variant	-	NC_000009.12:g.130466773C>T	ExAC,gnomAD
ASS1	P00966	p.Arg157His	rs121908637	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466774G>A	UniProt,dbSNP
ASS1	P00966	p.Arg157His	VAR_000685	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130466774G>A	UniProt
ASS1	P00966	p.Arg157His	rs121908637	missense variant	-	NC_000009.12:g.130466774G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg157His	RCV000259104	missense variant	-	NC_000009.12:g.130466774G>A	ClinVar
ASS1	P00966	p.Arg157Ser	VAR_078398	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Asn158Ser	rs770066903	missense variant	-	NC_000009.12:g.130466777A>G	ExAC,gnomAD
ASS1	P00966	p.Asn158Asp	rs1199062770	missense variant	-	NC_000009.12:g.130466776A>G	gnomAD
ASS1	P00966	p.Met161Leu	rs775699839	missense variant	-	NC_000009.12:g.130466785A>T	ExAC,gnomAD
ASS1	P00966	p.Tyr163Cys	rs1167697513	missense variant	-	NC_000009.12:g.130466792A>G	gnomAD
ASS1	P00966	p.Tyr163Ter	rs377319610	stop gained	-	NC_000009.12:g.130466793C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr163_Lys412del	VAR_078399	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala164Ser	rs201445618	missense variant	-	NC_000009.12:g.130466794G>T	TOPMed,gnomAD
ASS1	P00966	p.Ala164Thr	rs201445618	missense variant	-	NC_000009.12:g.130466794G>A	TOPMed,gnomAD
ASS1	P00966	p.Ala164Pro	VAR_078400	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.His167Tyr	rs978412155	missense variant	-	NC_000009.12:g.130470837C>T	TOPMed
ASS1	P00966	p.His167Arg	rs577627504	missense variant	-	NC_000009.12:g.130470838A>G	1000Genomes
ASS1	P00966	p.Gly168Arg	rs763449750	missense variant	-	NC_000009.12:g.130470840G>A	ExAC,gnomAD
ASS1	P00966	p.Gly168Arg	rs763449750	missense variant	-	NC_000009.12:g.130470840G>C	ExAC,gnomAD
ASS1	P00966	p.Pro172Leu	RCV000315185	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470853C>T	ClinVar
ASS1	P00966	p.Pro172Arg	rs372078387	missense variant	-	NC_000009.12:g.130470853C>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro172Leu	rs372078387	missense variant	-	NC_000009.12:g.130470853C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val173Leu	rs911748539	missense variant	-	NC_000009.12:g.130470855G>C	TOPMed,gnomAD
ASS1	P00966	p.Val173Ile	rs911748539	missense variant	-	NC_000009.12:g.130470855G>A	TOPMed,gnomAD
ASS1	P00966	p.Val173Phe	rs911748539	missense variant	-	NC_000009.12:g.130470855G>T	TOPMed,gnomAD
ASS1	P00966	p.Lys176Glu	rs1207643091	missense variant	-	NC_000009.12:g.130470864A>G	gnomAD
ASS1	P00966	p.Lys176Arg	rs755924197	missense variant	-	NC_000009.12:g.130470865A>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asn177Ser	rs780436694	missense variant	-	NC_000009.12:g.130470868A>G	ExAC,gnomAD
ASS1	P00966	p.Pro178Leu	rs768846877	missense variant	-	NC_000009.12:g.130470871C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Trp179Arg	RCV000291508	missense variant	-	NC_000009.12:g.130470873T>C	ClinVar
ASS1	P00966	p.Trp179Arg	RCV000256312	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470873T>C	ClinVar
ASS1	P00966	p.Trp179Arg	rs121908646	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470873T>C	UniProt,dbSNP
ASS1	P00966	p.Trp179Arg	VAR_015898	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470873T>C	UniProt
ASS1	P00966	p.Trp179Arg	rs121908646	missense variant	-	NC_000009.12:g.130470873T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Trp179Cys	rs1409764603	missense variant	-	NC_000009.12:g.130470875G>C	gnomAD
ASS1	P00966	p.Trp179Arg	RCV000006707	missense variant	Citrullinemia, mild	NC_000009.12:g.130470873T>C	ClinVar
ASS1	P00966	p.Ser180Ile	RCV000529881	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470877G>T	ClinVar
ASS1	P00966	p.Ser180Asn	rs121908638	missense variant	-	NC_000009.12:g.130470877G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser180Asn	rs121908638	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>A	UniProt,dbSNP
ASS1	P00966	p.Ser180Asn	VAR_000686	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>A	UniProt
ASS1	P00966	p.Ser180Cys	rs1456790094	missense variant	-	NC_000009.12:g.130470876A>T	gnomAD
ASS1	P00966	p.Ser180Ile	rs121908638	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>T	UniProt,dbSNP
ASS1	P00966	p.Ser180Ile	VAR_078401	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470877G>T	UniProt
ASS1	P00966	p.Ser180Ile	rs121908638	missense variant	-	NC_000009.12:g.130470877G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ser180Asn	RCV000185782	missense variant	-	NC_000009.12:g.130470877G>A	ClinVar
ASS1	P00966	p.Met181Val	rs1391150004	missense variant	-	NC_000009.12:g.130470879A>G	TOPMed,gnomAD
ASS1	P00966	p.Glu183Lys	rs773665483	missense variant	-	NC_000009.12:g.130470885G>A	ExAC
ASS1	P00966	p.Asn184Lys	rs368192467	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470890C>A	UniProt,dbSNP
ASS1	P00966	p.Asn184Lys	VAR_078402	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130470890C>A	UniProt
ASS1	P00966	p.Asn184Lys	rs368192467	missense variant	-	NC_000009.12:g.130470890C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Leu185His	rs775215941	missense variant	-	NC_000009.12:g.130470892T>A	ExAC
ASS1	P00966	p.Met186Ile	rs1380426442	missense variant	-	NC_000009.12:g.130470896G>A	gnomAD
ASS1	P00966	p.Met186Arg	RCV000779573	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130470895T>G	ClinVar
ASS1	P00966	p.Ile188Val	rs762510847	missense variant	-	NC_000009.12:g.130470900A>G	ExAC,gnomAD
ASS1	P00966	p.Tyr190His	rs752862441	missense variant	-	NC_000009.12:g.130471486T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Tyr190Asp	VAR_058344	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Glu191Lys	RCV000190357	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471489G>A	ClinVar
ASS1	P00966	p.Glu191Lys	rs777828000	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130471489G>A	UniProt,dbSNP
ASS1	P00966	p.Glu191Lys	VAR_015899	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130471489G>A	UniProt
ASS1	P00966	p.Glu191Lys	rs777828000	missense variant	-	NC_000009.12:g.130471489G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu191Gln	VAR_058345	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ala192Thr	rs568893606	missense variant	-	NC_000009.12:g.130471492G>A	1000Genomes
ASS1	P00966	p.Ala192Val	VAR_000687	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly193Arg	rs1311437424	missense variant	-	NC_000009.12:g.130471495G>A	TOPMed
ASS1	P00966	p.Gly193Arg	RCV000702722	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471495G>A	ClinVar
ASS1	P00966	p.Leu195Pro	RCV000824287	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130471502T>C	ClinVar
ASS1	P00966	p.Leu195Pro	rs796051936	missense variant	-	NC_000009.12:g.130471502T>C	-
ASS1	P00966	p.Glu196Ala	rs1430947504	missense variant	-	NC_000009.12:g.130471505A>C	gnomAD
ASS1	P00966	p.Asn197Ser	rs1331462223	missense variant	-	NC_000009.12:g.130471508A>G	gnomAD
ASS1	P00966	p.Asn197Lys	rs1355715277	missense variant	-	NC_000009.12:g.130471509C>A	gnomAD
ASS1	P00966	p.Pro198Leu	rs781652117	missense variant	-	NC_000009.12:g.130471511C>T	ExAC,gnomAD
ASS1	P00966	p.Lys199Arg	rs764078809	missense variant	-	NC_000009.12:g.130471514A>G	TOPMed,gnomAD
ASS1	P00966	p.Asn200Lys	rs750874679	missense variant	-	NC_000009.12:g.130476873C>A	ExAC,gnomAD
ASS1	P00966	p.Gln201Glu	rs563922134	missense variant	-	NC_000009.12:g.130476874C>G	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala202Glu	RCV000259040	missense variant	-	NC_000009.12:g.130476878C>A	ClinVar
ASS1	P00966	p.Ala202Glu	RCV000796571	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130476878C>A	ClinVar
ASS1	P00966	p.Ala202Glu	rs376371866	missense variant	-	NC_000009.12:g.130476878C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala202Val	rs376371866	missense variant	-	NC_000009.12:g.130476878C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro203Thr	rs147858743	missense variant	-	NC_000009.12:g.130476880C>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro203Leu	rs1477093617	missense variant	-	NC_000009.12:g.130476881C>T	gnomAD
ASS1	P00966	p.Gly205Ser	rs746536193	missense variant	-	NC_000009.12:g.130476886G>A	ExAC,gnomAD
ASS1	P00966	p.Leu206Pro	VAR_058347	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Thr208Arg	rs776441071	missense variant	-	NC_000009.12:g.130476896C>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr208Ala	rs62637575	missense variant	-	NC_000009.12:g.130476895A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr208Met	rs776441071	missense variant	-	NC_000009.12:g.130476896C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Pro213Gln	rs1486449199	missense variant	-	NC_000009.12:g.130476911C>A	TOPMed
ASS1	P00966	p.Lys215Ile	rs1462611440	missense variant	-	NC_000009.12:g.130476917A>T	gnomAD
ASS1	P00966	p.Ala216Asp	rs1043964127	missense variant	-	NC_000009.12:g.130476920C>A	gnomAD
ASS1	P00966	p.Ala216Ser	rs1156471881	missense variant	-	NC_000009.12:g.130476919G>T	gnomAD
ASS1	P00966	p.Thr219Ala	rs1280678606	missense variant	-	NC_000009.12:g.130476928A>G	TOPMed
ASS1	P00966	p.Thr219Asn	rs769538241	missense variant	-	NC_000009.12:g.130476929C>A	ExAC,gnomAD
ASS1	P00966	p.Glu224Lys	rs764331417	missense variant	-	NC_000009.12:g.130476943G>A	ExAC,gnomAD
ASS1	P00966	p.Glu226Lys	rs761813681	missense variant	-	NC_000009.12:g.130476949G>A	ExAC,gnomAD
ASS1	P00966	p.Glu226Val	rs767628546	missense variant	-	NC_000009.12:g.130476950A>T	ExAC,gnomAD
ASS1	P00966	p.Gly230Ala	RCV000490502	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130479716G>C	ClinVar
ASS1	P00966	p.Gly230Ala	rs1085307056	missense variant	-	NC_000009.12:g.130479716G>C	TOPMed
ASS1	P00966	p.Gly230Arg	VAR_078403	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val231Ile	rs1397280585	missense variant	-	NC_000009.12:g.130479718G>A	TOPMed,gnomAD
ASS1	P00966	p.Val231Phe	rs1397280585	missense variant	-	NC_000009.12:g.130479718G>T	TOPMed,gnomAD
ASS1	P00966	p.Pro232Ser	rs1321789086	missense variant	-	NC_000009.12:g.130479721C>T	TOPMed,gnomAD
ASS1	P00966	p.Thr236Ala	rs745415384	missense variant	-	NC_000009.12:g.130479733A>G	ExAC,gnomAD
ASS1	P00966	p.Asn237Ser	rs565520844	missense variant	-	NC_000009.12:g.130479737A>G	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asn237Ile	VAR_078404	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val238Ile	rs368414392	missense variant	-	NC_000009.12:g.130479739G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp240His	rs1480656634	missense variant	-	NC_000009.12:g.130479745G>C	gnomAD
ASS1	P00966	p.Gly241Ser	rs1266978229	missense variant	-	NC_000009.12:g.130479748G>A	gnomAD
ASS1	P00966	p.Leu248Phe	rs1447491328	missense variant	-	NC_000009.12:g.130479771G>T	TOPMed,gnomAD
ASS1	P00966	p.Glu249Gly	rs748358908	missense variant	-	NC_000009.12:g.130479773A>G	ExAC,gnomAD
ASS1	P00966	p.Leu250Phe	rs772369785	missense variant	-	NC_000009.12:g.130479775C>T	ExAC,gnomAD
ASS1	P00966	p.Met252Thr	rs760818666	missense variant	-	NC_000009.12:g.130479782T>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu256Lys	rs74923032	missense variant	-	NC_000009.12:g.130479793G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu256Lys	RCV000224618	missense variant	-	NC_000009.12:g.130479793G>A	ClinVar
ASS1	P00966	p.Ala258Thr	rs765748014	missense variant	-	NC_000009.12:g.130479799G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala258Val	rs753078725	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130479800C>T	UniProt,dbSNP
ASS1	P00966	p.Ala258Val	VAR_078406	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130479800C>T	UniProt
ASS1	P00966	p.Ala258Val	rs753078725	missense variant	-	NC_000009.12:g.130479800C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala258Val	RCV000669784	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130479800C>T	ClinVar
ASS1	P00966	p.Ala258Pro	VAR_078405	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly259Val	rs567807132	missense variant	-	NC_000009.12:g.130480387G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys260Arg	rs1193243645	missense variant	-	NC_000009.12:g.130480390A>G	TOPMed,gnomAD
ASS1	P00966	p.His261Arg	rs749349212	missense variant	-	NC_000009.12:g.130480393A>G	ExAC
ASS1	P00966	p.Gly262Ser	rs1254010338	missense variant	-	NC_000009.12:g.130480395G>A	gnomAD
ASS1	P00966	p.Val263Met	rs192838388	missense variant	-	NC_000009.12:g.130480398G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val263Met	RCV000185783	missense variant	-	NC_000009.12:g.130480398G>A	ClinVar
ASS1	P00966	p.Arg265Cys	rs148918985	missense variant	-	NC_000009.12:g.130480404C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg265Cys	rs148918985	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480404C>T	UniProt,dbSNP
ASS1	P00966	p.Arg265Cys	VAR_058349	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480404C>T	UniProt
ASS1	P00966	p.Arg265His	RCV000723811	missense variant	-	NC_000009.12:g.130480405G>A	ClinVar
ASS1	P00966	p.Arg265Cys	RCV000078025	missense variant	-	NC_000009.12:g.130480404C>T	ClinVar
ASS1	P00966	p.Arg265His	rs398123131	missense variant	-	NC_000009.12:g.130480405G>A	TOPMed,gnomAD
ASS1	P00966	p.Arg265His	rs398123131	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480405G>A	UniProt,dbSNP
ASS1	P00966	p.Arg265His	VAR_015900	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480405G>A	UniProt
ASS1	P00966	p.Ile266Val	rs377221825	missense variant	-	NC_000009.12:g.130480407A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Asp267Gly	rs1465173093	missense variant	-	NC_000009.12:g.130480411A>G	TOPMed
ASS1	P00966	p.Ile268Met	rs773540764	missense variant	-	NC_000009.12:g.130480415C>G	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val269Met	RCV000174211	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480416G>A	ClinVar
ASS1	P00966	p.Val269Met	RCV000412912	missense variant	-	NC_000009.12:g.130480416G>A	ClinVar
ASS1	P00966	p.Val269Met	rs370595480	missense variant	-	NC_000009.12:g.130480416G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val269Met	rs370595480	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480416G>A	UniProt,dbSNP
ASS1	P00966	p.Val269Met	VAR_015901	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480416G>A	UniProt
ASS1	P00966	p.Glu270Gln	RCV000673280	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480419G>C	ClinVar
ASS1	P00966	p.Glu270Gln	rs775163147	missense variant	-	NC_000009.12:g.130480419G>C	ExAC,gnomAD
ASS1	P00966	p.Glu270Gln	rs775163147	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480419G>C	UniProt,dbSNP
ASS1	P00966	p.Glu270Gln	VAR_016007	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480419G>C	UniProt
ASS1	P00966	p.Arg272Leu	rs768215008	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>T	UniProt,dbSNP
ASS1	P00966	p.Arg272Leu	VAR_078408	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>T	UniProt
ASS1	P00966	p.Arg272Leu	rs768215008	missense variant	-	NC_000009.12:g.130480426G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg272Cys	rs762387914	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480425C>T	UniProt,dbSNP
ASS1	P00966	p.Arg272Cys	VAR_000688	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480425C>T	UniProt
ASS1	P00966	p.Arg272Cys	rs762387914	missense variant	-	NC_000009.12:g.130480425C>T	ExAC,gnomAD
ASS1	P00966	p.Arg272His	rs768215008	missense variant	-	NC_000009.12:g.130480426G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg272His	rs768215008	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>A	UniProt,dbSNP
ASS1	P00966	p.Arg272His	VAR_078407	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480426G>A	UniProt
ASS1	P00966	p.Arg272Cys	RCV000409266	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480425C>T	ClinVar
ASS1	P00966	p.Gly275Ter	RCV000673813	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480434G>T	ClinVar
ASS1	P00966	p.Gly275Ter	rs1554723625	stop gained	-	NC_000009.12:g.130480434G>T	-
ASS1	P00966	p.Gly275_Lys412del	VAR_078409	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Met276Thr	rs1365759588	missense variant	-	NC_000009.12:g.130480438T>C	TOPMed,gnomAD
ASS1	P00966	p.Lys277Thr	VAR_058350	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg279Gln	RCV000723467	missense variant	-	NC_000009.12:g.130480447G>A	ClinVar
ASS1	P00966	p.Arg279Gln	rs371265106	missense variant	-	NC_000009.12:g.130480447G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg279Gln	rs371265106	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480447G>A	UniProt,dbSNP
ASS1	P00966	p.Arg279Gln	VAR_016008	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130480447G>A	UniProt
ASS1	P00966	p.Arg279Ter	rs121908645	stop gained	-	NC_000009.12:g.130480446C>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg279Ter	RCV000006705	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130480446C>T	ClinVar
ASS1	P00966	p.Arg279_Lys412del	VAR_078410	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly280Ser	rs767470664	missense variant	-	NC_000009.12:g.130480449G>A	ExAC,gnomAD
ASS1	P00966	p.Gly280Val	rs754062242	missense variant	-	NC_000009.12:g.130489333G>T	ExAC,gnomAD
ASS1	P00966	p.Gly280Ala	rs754062242	missense variant	-	NC_000009.12:g.130489333G>C	ExAC,gnomAD
ASS1	P00966	p.Gly280Val	RCV000543848	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489333G>T	ClinVar
ASS1	P00966	p.Gly280Arg	VAR_000689	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr282Ter	rs549085827	stop gained	-	NC_000009.12:g.130489340C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu283Lys	RCV000672066	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489341G>A	ClinVar
ASS1	P00966	p.Glu283Lys	RCV000493705	missense variant	-	NC_000009.12:g.130489341G>A	ClinVar
ASS1	P00966	p.Glu283Lys	rs765338121	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489341G>A	UniProt,dbSNP
ASS1	P00966	p.Glu283Lys	VAR_015902	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489341G>A	UniProt
ASS1	P00966	p.Glu283Lys	rs765338121	missense variant	-	NC_000009.12:g.130489341G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr284Ile	rs886039853	missense variant	-	NC_000009.12:g.130489345C>T	gnomAD
ASS1	P00966	p.Thr284Ile	RCV000256276	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489345C>T	ClinVar
ASS1	P00966	p.Pro285Gln	rs1313489293	missense variant	-	NC_000009.12:g.130489348C>A	TOPMed,gnomAD
ASS1	P00966	p.Pro285Ser	rs1414109637	missense variant	-	NC_000009.12:g.130489347C>T	gnomAD
ASS1	P00966	p.Gly287Ser	rs1237139147	missense variant	-	NC_000009.12:g.130489353G>A	gnomAD
ASS1	P00966	p.Leu290Pro	VAR_078411	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Tyr291Ser	VAR_058352	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.His292Tyr	rs1043724459	missense variant	-	NC_000009.12:g.130489368C>T	TOPMed
ASS1	P00966	p.Ala293Val	rs1433075371	missense variant	-	NC_000009.12:g.130489372C>T	TOPMed
ASS1	P00966	p.Ala293Thr	rs1225791024	missense variant	-	NC_000009.12:g.130489371G>A	gnomAD
ASS1	P00966	p.Leu295Ter	rs1278663122	stop gained	-	NC_000009.12:g.130489378T>G	gnomAD
ASS1	P00966	p.Asp296Val	rs752042210	missense variant	-	NC_000009.12:g.130489381A>T	ExAC,gnomAD
ASS1	P00966	p.Asp296Gly	VAR_058353	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile297Thr	rs1257594301	missense variant	-	NC_000009.12:g.130489384T>C	TOPMed,gnomAD
ASS1	P00966	p.Ile297Val	rs757629975	missense variant	-	NC_000009.12:g.130489383A>G	ExAC,gnomAD
ASS1	P00966	p.Glu298Ter	RCV000169181	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489386del	ClinVar
ASS1	P00966	p.Glu298Gly	RCV000078029	missense variant	-	NC_000009.12:g.130489387A>G	ClinVar
ASS1	P00966	p.Glu298Asp	rs201419685	missense variant	-	NC_000009.12:g.130489388G>C	ExAC,gnomAD
ASS1	P00966	p.Glu298Lys	rs1372482894	missense variant	-	NC_000009.12:g.130489386G>A	TOPMed
ASS1	P00966	p.Glu298Gly	rs372061654	missense variant	-	NC_000009.12:g.130489387A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala299Asp	rs768394647	missense variant	-	NC_000009.12:g.130489390C>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ala299Asp	rs768394647	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489390C>A	UniProt,dbSNP
ASS1	P00966	p.Ala299Asp	VAR_078412	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489390C>A	UniProt
ASS1	P00966	p.Thr301Ala	rs778658154	missense variant	-	NC_000009.12:g.130489395A>G	ExAC,gnomAD
ASS1	P00966	p.Met302Val	VAR_058354	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg304Pro	rs771640767	missense variant	-	NC_000009.12:g.130489405G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg304Trp	rs121908642	missense variant	-	NC_000009.12:g.130489404C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg304Trp	rs121908642	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489404C>T	UniProt,dbSNP
ASS1	P00966	p.Arg304Trp	VAR_000690	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489404C>T	UniProt
ASS1	P00966	p.Arg304Trp	RCV000006702	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489404C>T	ClinVar
ASS1	P00966	p.Arg304Trp	RCV000723845	missense variant	-	NC_000009.12:g.130489404C>T	ClinVar
ASS1	P00966	p.Arg304Gln	rs771640767	missense variant	-	NC_000009.12:g.130489405G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Glu305Val	RCV000078030	missense variant	-	NC_000009.12:g.130489408A>T	ClinVar
ASS1	P00966	p.Glu305Val	rs398123132	missense variant	-	NC_000009.12:g.130489408A>T	-
ASS1	P00966	p.Val306Gly	VAR_078413	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg307His	RCV000727599	missense variant	-	NC_000009.12:g.130489414G>A	ClinVar
ASS1	P00966	p.Arg307Cys	RCV000255358	missense variant	-	NC_000009.12:g.130489413C>T	ClinVar
ASS1	P00966	p.Arg307Cys	rs183276875	missense variant	-	NC_000009.12:g.130489413C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg307Cys	rs183276875	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489413C>T	UniProt,dbSNP
ASS1	P00966	p.Arg307Cys	VAR_058355	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489413C>T	UniProt
ASS1	P00966	p.Arg307His	rs571576756	missense variant	-	NC_000009.12:g.130489414G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg307His	RCV000633520	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489414G>A	ClinVar
ASS1	P00966	p.Lys308Asn	rs776452362	missense variant	-	NC_000009.12:g.130489418A>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys310Gln	rs121908648	missense variant	-	NC_000009.12:g.130489422A>C	ExAC,gnomAD
ASS1	P00966	p.Lys310Gln	rs121908648	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489422A>C	UniProt,dbSNP
ASS1	P00966	p.Lys310Gln	VAR_016009	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489422A>C	UniProt
ASS1	P00966	p.Lys310Gln	RCV000006711	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489422A>C	ClinVar
ASS1	P00966	p.Lys310Arg	RCV000286574	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489423A>G	ClinVar
ASS1	P00966	p.Lys310Arg	rs199751308	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489423A>G	UniProt,dbSNP
ASS1	P00966	p.Lys310Arg	VAR_015903	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489423A>G	UniProt
ASS1	P00966	p.Lys310Arg	rs199751308	missense variant	-	NC_000009.12:g.130489423A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln311Arg	rs999685778	missense variant	-	NC_000009.12:g.130489426A>G	TOPMed,gnomAD
ASS1	P00966	p.Gln311Ter	RCV000668096	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489425C>T	ClinVar
ASS1	P00966	p.Gln311Ter	rs1301613270	stop gained	-	NC_000009.12:g.130489425C>T	gnomAD
ASS1	P00966	p.Gln311Glu	rs1301613270	missense variant	-	NC_000009.12:g.130489425C>G	gnomAD
ASS1	P00966	p.Gln311_Lys412del	VAR_078414	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly312Val	rs763028919	missense variant	-	NC_000009.12:g.130489429G>T	ExAC,gnomAD
ASS1	P00966	p.Phe317Ter	RCV000674984	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489445del	ClinVar
ASS1	P00966	p.Val321Met	RCV000672058	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489455G>A	ClinVar
ASS1	P00966	p.Val321Met	rs727503813	missense variant	-	NC_000009.12:g.130489455G>A	-
ASS1	P00966	p.Val321Met	RCV000152807	missense variant	-	NC_000009.12:g.130489455G>A	ClinVar
ASS1	P00966	p.Tyr322Cys	rs373473841	missense variant	-	NC_000009.12:g.130489459A>G	ESP,ExAC,gnomAD
ASS1	P00966	p.Thr323Ile	rs1250895424	missense variant	-	NC_000009.12:g.130489462C>T	TOPMed,gnomAD
ASS1	P00966	p.Gly324Ser	rs121908639	missense variant	-	NC_000009.12:g.130489464G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly324Ser	rs121908639	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489464G>A	UniProt,dbSNP
ASS1	P00966	p.Gly324Ser	VAR_000691	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130489464G>A	UniProt
ASS1	P00966	p.Gly324Val	RCV000557764	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494867G>T	ClinVar
ASS1	P00966	p.Gly324Val	rs1554725034	missense variant	-	NC_000009.12:g.130494867G>T	-
ASS1	P00966	p.Gly324Cys	rs121908639	missense variant	-	NC_000009.12:g.130489464G>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly324Ser	RCV000006699	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130489464G>A	ClinVar
ASS1	P00966	p.Gly324Val	VAR_058356	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Trp326Ter	RCV000411785	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494874del	ClinVar
ASS1	P00966	p.Ser328Asn	rs1224833895	missense variant	-	NC_000009.12:g.130494879G>A	TOPMed
ASS1	P00966	p.Cys331Arg	rs1055308437	missense variant	-	NC_000009.12:g.130494887T>C	TOPMed
ASS1	P00966	p.Glu332Gly	rs1484802218	missense variant	-	NC_000009.12:g.130494891A>G	gnomAD
ASS1	P00966	p.Glu332Lys	rs1283242027	missense variant	-	NC_000009.12:g.130494890G>A	TOPMed
ASS1	P00966	p.Phe333Val	rs756665874	missense variant	-	NC_000009.12:g.130494893T>G	ExAC,gnomAD
ASS1	P00966	p.Val334Ala	rs1434881256	missense variant	-	NC_000009.12:g.130494897T>C	TOPMed
ASS1	P00966	p.Arg335His	rs555388438	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494900G>A	UniProt,dbSNP
ASS1	P00966	p.Arg335His	VAR_078416	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494900G>A	UniProt
ASS1	P00966	p.Arg335His	rs555388438	missense variant	-	NC_000009.12:g.130494900G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg335Cys	RCV000633519	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494899C>T	ClinVar
ASS1	P00966	p.Arg335Cys	rs373514077	missense variant	-	NC_000009.12:g.130494899C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg335His	RCV000670744	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494900G>A	ClinVar
ASS1	P00966	p.Cys337Gly	rs1554725043	missense variant	-	NC_000009.12:g.130494905T>G	-
ASS1	P00966	p.Cys337Gly	RCV000633524	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494905T>G	ClinVar
ASS1	P00966	p.Cys337Arg	VAR_078417	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile338Val	rs769634647	missense variant	-	NC_000009.12:g.130494908A>G	ExAC,gnomAD
ASS1	P00966	p.Ile338Phe	rs769634647	missense variant	-	NC_000009.12:g.130494908A>T	ExAC,gnomAD
ASS1	P00966	p.Ala339Thr	RCV000377584	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494911G>A	ClinVar
ASS1	P00966	p.Ala339Thr	rs145100866	missense variant	-	NC_000009.12:g.130494911G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys340Met	rs538040998	missense variant	-	NC_000009.12:g.130494915A>T	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Lys340Arg	rs538040998	missense variant	-	NC_000009.12:g.130494915A>G	1000Genomes,ExAC,gnomAD
ASS1	P00966	p.Ser341Phe	VAR_058357	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gln342Arg	RCV000546005	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494921A>G	ClinVar
ASS1	P00966	p.Gln342Arg	rs1554725061	missense variant	-	NC_000009.12:g.130494921A>G	-
ASS1	P00966	p.Arg344Ter	RCV000169239	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494926C>T	ClinVar
ASS1	P00966	p.Arg344Ter	rs786204537	stop gained	-	NC_000009.12:g.130494926C>T	gnomAD
ASS1	P00966	p.Arg344Gln	rs999411828	missense variant	-	NC_000009.12:g.130494927G>A	TOPMed
ASS1	P00966	p.Arg344_Lys412del	VAR_078418	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val345Gly	VAR_058358	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Glu346Asp	rs1289852479	missense variant	-	NC_000009.12:g.130494934A>C	TOPMed,gnomAD
ASS1	P00966	p.Gly347Arg	VAR_058359	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Lys348Glu	rs1428619789	missense variant	-	NC_000009.12:g.130494938A>G	TOPMed
ASS1	P00966	p.Val349Met	rs1174700771	missense variant	-	NC_000009.12:g.130494941G>A	gnomAD
ASS1	P00966	p.Val351Met	rs773909247	missense variant	-	NC_000009.12:g.130494947G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val353Ile	rs754285392	missense variant	-	NC_000009.12:g.130494953G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Lys355Ter	RCV000306977	frameshift	-	NC_000009.12:g.130494960del	ClinVar
ASS1	P00966	p.Gly356Val	RCV000672036	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494963G>T	ClinVar
ASS1	P00966	p.Gly356Asp	rs1261110148	missense variant	-	NC_000009.12:g.130494963G>A	gnomAD
ASS1	P00966	p.Gly356Val	rs1261110148	missense variant	-	NC_000009.12:g.130494963G>T	gnomAD
ASS1	P00966	p.Gly356Val	VAR_078419	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gln357Ter	RCV000633522	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494965C>T	ClinVar
ASS1	P00966	p.Gln357Ter	rs756859126	stop gained	-	NC_000009.12:g.130494965C>T	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln357_Lys412del	VAR_078420	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Val358Met	rs780667165	missense variant	-	NC_000009.12:g.130494968G>A	ExAC,gnomAD
ASS1	P00966	p.Val358Leu	rs780667165	missense variant	-	NC_000009.12:g.130494968G>T	ExAC,gnomAD
ASS1	P00966	p.Tyr359Asp	RCV000690358	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494971T>G	ClinVar
ASS1	P00966	p.Tyr359His	rs1262020902	missense variant	-	NC_000009.12:g.130494971T>C	TOPMed
ASS1	P00966	p.Tyr359Cys	rs1486068351	missense variant	-	NC_000009.12:g.130494972A>G	gnomAD
ASS1	P00966	p.Tyr359Asp	VAR_058360	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Ile360Asn	rs1248643636	missense variant	-	NC_000009.12:g.130494975T>A	gnomAD
ASS1	P00966	p.Leu361Arg	rs1160216159	missense variant	-	NC_000009.12:g.130494978T>G	gnomAD
ASS1	P00966	p.Gly362Val	RCV000256322	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494981G>T	ClinVar
ASS1	P00966	p.Gly362Ser	rs779930497	missense variant	-	NC_000009.12:g.130494980G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly362Val	rs121908647	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494981G>T	UniProt,dbSNP
ASS1	P00966	p.Gly362Val	VAR_015904	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494981G>T	UniProt
ASS1	P00966	p.Gly362Val	rs121908647	missense variant	-	NC_000009.12:g.130494981G>T	gnomAD
ASS1	P00966	p.Gly362Val	RCV000418697	missense variant	-	NC_000009.12:g.130494981G>T	ClinVar
ASS1	P00966	p.Gly362Val	RCV000006708	missense variant	Citrullinemia, mild	NC_000009.12:g.130494981G>T	ClinVar
ASS1	P00966	p.Arg363Trp	RCV000006700	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494983C>T	ClinVar
ASS1	P00966	p.Arg363Trp	RCV000185787	missense variant	-	NC_000009.12:g.130494983C>T	ClinVar
ASS1	P00966	p.Arg363Gln	RCV000633525	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130494984G>A	ClinVar
ASS1	P00966	p.Arg363Gln	rs771937610	missense variant	-	NC_000009.12:g.130494984G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Arg363Trp	rs121908640	missense variant	-	NC_000009.12:g.130494983C>T	TOPMed,gnomAD
ASS1	P00966	p.Arg363Trp	rs121908640	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494983C>T	UniProt,dbSNP
ASS1	P00966	p.Arg363Trp	VAR_000693	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130494983C>T	UniProt
ASS1	P00966	p.Arg363Leu	VAR_000692	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Arg363Gly	VAR_016010	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Leu367Pro	rs1370653471	missense variant	-	NC_000009.12:g.130494996T>C	gnomAD
ASS1	P00966	p.Glu372Asp	rs1355666688	missense variant	-	NC_000009.12:g.130495012G>T	gnomAD
ASS1	P00966	p.Glu373Ter	rs1453708640	stop gained	-	NC_000009.12:g.130495013G>T	TOPMed
ASS1	P00966	p.Met377Ile	rs1361316705	missense variant	-	NC_000009.12:g.130499508G>A	gnomAD
ASS1	P00966	p.Asn378Lys	rs140715869	missense variant	-	NC_000009.12:g.130499511C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val379Met	rs78549067	missense variant	-	NC_000009.12:g.130499512G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Val379Leu	rs78549067	missense variant	-	NC_000009.12:g.130499512G>C	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln380Ter	RCV000672915	frameshift	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499516del	ClinVar
ASS1	P00966	p.Gln380Ter	RCV000169103	nonsense	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499515C>T	ClinVar
ASS1	P00966	p.Gln380His	rs746347893	missense variant	-	NC_000009.12:g.130499517G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gln380Ter	rs786204460	stop gained	-	NC_000009.12:g.130499515C>T	-
ASS1	P00966	p.Gln380_Lys412del	VAR_078421	inframe_deletion	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Asp382Val	rs770243951	missense variant	-	NC_000009.12:g.130499522A>T	ExAC
ASS1	P00966	p.Pro385Ala	rs775691183	missense variant	-	NC_000009.12:g.130499530C>G	ExAC,gnomAD
ASS1	P00966	p.Thr386Pro	rs376164698	missense variant	-	NC_000009.12:g.130499533A>C	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr386Ile	rs1486493080	missense variant	-	NC_000009.12:g.130499534C>T	TOPMed,gnomAD
ASS1	P00966	p.Thr386Ala	rs376164698	missense variant	-	NC_000009.12:g.130499533A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr389Ile	rs1474017319	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499543C>T	UniProt,dbSNP
ASS1	P00966	p.Thr389Ile	VAR_016012	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499543C>T	UniProt
ASS1	P00966	p.Thr389Ile	rs1474017319	missense variant	-	NC_000009.12:g.130499543C>T	gnomAD
ASS1	P00966	p.Thr389Ala	rs145288815	missense variant	-	NC_000009.12:g.130499542A>G	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Thr389Pro	VAR_078422	Missense	Citrullinemia 1 (CTLN1) [MIM:215700]	-	UniProt
ASS1	P00966	p.Gly390Arg	RCV000006701	missense variant	Citrullinemia type I (CTNL1)	NC_000009.12:g.130499545G>A	ClinVar
ASS1	P00966	p.Gly390Trp	rs121908641	missense variant	-	NC_000009.12:g.130499545G>T	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Gly390Glu	rs753858624	missense variant	-	NC_000009.12:g.130499546G>A	ExAC,gnomAD
ASS1	P00966	p.Gly390Arg	rs121908641	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499545G>A	UniProt,dbSNP
ASS1	P00966	p.Gly390Arg	VAR_000694	missense variant	Citrullinemia 1 (CTLN1)	NC_000009.12:g.130499545G>A	UniProt
ASS1	P00966	p.Gly390Arg	rs121908641	missense variant	-	NC_000009.12:g.130499545G>A	ESP,ExAC,TOPMed,gnomAD
ASS1	P00966	p.Phe391Leu	rs1554725724	missense variant	-	NC_000009.12:g.130499550C>A	-
ASS1	P00966	p.Phe391Leu	RCV000497925	missense variant	-	NC_000009.12:g.130499550C>A	ClinVar
ASS1	P00966	p.Asn393Lys	rs754836732	missense variant	-	NC_000009.12:g.130499556C>G	ExAC,gnomAD
ASS1	P00966	p.Ile394Met	rs1011135762	missense variant	-	NC_000009.12:g.130499559C>G	TOPMed
ASS1	P00966	p.Ile394Val	rs1301940406	missense variant	-	NC_000009.12:g.130499557A>G	TOPMed
ASS1	P00966	p.Asn395Ser	rs1021193921	missense variant	-	NC_000009.12:g.130499561A>G	TOPMed,gnomAD
ASS1	P00966	p.Ser396Thr	rs1419938185	missense variant	-	NC_000009.12:g.130499563T>A	TOPMed
ASS1	P00966	p.Arg398Ser	rs1437068422	missense variant	-	NC_000009.12:g.130500976G>C	TOPMed
ASS1	P00966	p.Tyr402Cys	rs1347470516	missense variant	-	NC_000009.12:g.130500987A>G	TOPMed,gnomAD
ASS1	P00966	p.His403Arg	rs964964749	missense variant	-	NC_000009.12:g.130500990A>G	TOPMed,gnomAD
ASS1	P00966	p.Arg404Cys	rs765099183	missense variant	-	NC_000009.12:g.130500992C>T	ExAC,gnomAD
ASS1	P00966	p.Arg404His	rs752612525	missense variant	-	NC_000009.12:g.130500993G>A	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Leu405Pro	rs1242919093	missense variant	-	NC_000009.12:g.130500996T>C	gnomAD
ASS1	P00966	p.Lys408Asn	rs758336855	missense variant	-	NC_000009.12:g.130501006G>C	ExAC,TOPMed,gnomAD
ASS1	P00966	p.Ter413Gln	rs763970075	stop lost	-	NC_000009.12:g.130501019T>C	ExAC,gnomAD
ASS1	P00966	p.Ter413Tyr	rs1243083380	stop lost	-	NC_000009.12:g.130501021G>C	TOPMed
TGFA	P01135	p.Val2Phe	rs782335405	missense variant	-	NC_000002.12:g.70553764C>A	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Val2Ile	rs782335405	missense variant	-	NC_000002.12:g.70553764C>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Pro3Ala	rs1553507222	missense variant	-	NC_000002.12:g.70553761G>C	gnomAD
TGFA	P01135	p.Pro3His	rs782230526	missense variant	-	NC_000002.12:g.70553760G>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Pro3Leu	rs782230526	missense variant	-	NC_000002.12:g.70553760G>A	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ser4Trp	rs199781024	missense variant	-	NC_000002.12:g.70553757G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ser4Ala	rs781918389	missense variant	-	NC_000002.12:g.70553758A>C	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ser4Leu	rs199781024	missense variant	-	NC_000002.12:g.70553757G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ser4Ter	rs199781024	stop gained	-	NC_000002.12:g.70553757G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Gly6Ter	rs868956335	stop gained	-	NC_000002.12:g.70553752C>A	TOPMed
TGFA	P01135	p.Gly6Glu	rs1553507217	missense variant	-	NC_000002.12:g.70553751C>T	gnomAD
TGFA	P01135	p.Gly6Arg	rs868956335	missense variant	-	NC_000002.12:g.70553752C>T	TOPMed
TGFA	P01135	p.Gln7Arg	rs1226184340	missense variant	-	NC_000002.12:g.70553748T>C	TOPMed
TGFA	P01135	p.Leu8Phe	rs782692803	missense variant	-	NC_000002.12:g.70553746G>A	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Leu8Arg	rs572189928	missense variant	-	NC_000002.12:g.70553745A>C	1000Genomes,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala9Val	rs1206935435	missense variant	-	NC_000002.12:g.70553742G>A	TOPMed,gnomAD
TGFA	P01135	p.Phe11Leu	rs782496378	missense variant	-	NC_000002.12:g.70553735G>T	ExAC,gnomAD
TGFA	P01135	p.Ala12Ser	rs1553507213	missense variant	-	NC_000002.12:g.70553734C>A	gnomAD
TGFA	P01135	p.Ile15Asn	rs1553501402	missense variant	-	NC_000002.12:g.70514909A>T	gnomAD
TGFA	P01135	p.Ala19Val	rs782074408	missense variant	-	NC_000002.12:g.70514897G>A	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala19Ser	rs1336263613	missense variant	-	NC_000002.12:g.70514898C>A	TOPMed
TGFA	P01135	p.Gln21Arg	COSM3407951	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70514891T>C	NCI-TCGA Cosmic
TGFA	P01135	p.Gln21His	rs10183171	missense variant	-	NC_000002.12:g.70514890C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Glu24Ala	rs1553501396	missense variant	-	NC_000002.12:g.70514882T>G	gnomAD
TGFA	P01135	p.Asn25Asp	COSM443147	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70514880T>C	NCI-TCGA Cosmic
TGFA	P01135	p.Asn25Lys	rs200477881	missense variant	-	NC_000002.12:g.70514878G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Asn25Lys	rs200477881	missense variant	-	NC_000002.12:g.70514878G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Thr27Lys	rs138392270	missense variant	-	NC_000002.12:g.70514873G>T	ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Thr27Met	rs138392270	missense variant	-	NC_000002.12:g.70514873G>A	ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ser28Cys	COSM4934403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70514870G>C	NCI-TCGA Cosmic
TGFA	P01135	p.Ser28Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70514870G>A	NCI-TCGA
TGFA	P01135	p.Ser28Thr	rs1476246950	missense variant	-	NC_000002.12:g.70514871A>T	TOPMed,gnomAD
TGFA	P01135	p.Pro29Leu	rs370723372	missense variant	-	NC_000002.12:g.70514867G>A	ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Pro29Ser	rs1156844341	missense variant	-	NC_000002.12:g.70514868G>A	TOPMed
TGFA	P01135	p.Ser31Asn	rs782632960	missense variant	-	NC_000002.12:g.70514861C>T	ExAC,gnomAD
TGFA	P01135	p.Ala32Glu	rs782601026	missense variant	-	NC_000002.12:g.70465736G>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala32Thr	rs1373383061	missense variant	-	NC_000002.12:g.70514859C>T	TOPMed
TGFA	P01135	p.Pro34Leu	rs199569305	missense variant	-	NC_000002.12:g.70465730G>A	1000Genomes,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Val36Met	rs147786817	missense variant	-	NC_000002.12:g.70465725C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala38Thr	rs922910710	missense variant	-	NC_000002.12:g.70465719C>T	gnomAD
TGFA	P01135	p.Ala38Glu	rs199700477	missense variant	-	NC_000002.12:g.70465718G>T	1000Genomes,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala39Val	rs373378868	missense variant	-	NC_000002.12:g.70465715G>A	ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Val40Ala	rs782683659	missense variant	-	NC_000002.12:g.70465712A>G	ExAC,gnomAD
TGFA	P01135	p.Ser42Thr	rs782012686	missense variant	-	NC_000002.12:g.70465707A>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.His43Leu	rs782818852	missense variant	-	NC_000002.12:g.70465703T>A	ExAC,gnomAD
TGFA	P01135	p.Asn45Ser	rs782112864	missense variant	-	NC_000002.12:g.70465697T>C	ExAC,gnomAD
TGFA	P01135	p.Asp49Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70465686C>T	NCI-TCGA
TGFA	P01135	p.Ser50Phe	rs1553492087	missense variant	-	NC_000002.12:g.70465682G>A	gnomAD
TGFA	P01135	p.Gln53Arg	rs1553492083	missense variant	-	NC_000002.12:g.70465673T>C	TOPMed,gnomAD
TGFA	P01135	p.Gln53His	rs943061798	missense variant	-	NC_000002.12:g.70465672C>G	gnomAD
TGFA	P01135	p.His57Gln	rs1448049520	missense variant	-	NC_000002.12:g.70465660A>T	TOPMed
TGFA	P01135	p.Gly58Val	rs1285482265	missense variant	-	NC_000002.12:g.70465658C>A	TOPMed
TGFA	P01135	p.Thr59Pro	rs781919023	missense variant	-	NC_000002.12:g.70465656T>G	ExAC,gnomAD
TGFA	P01135	p.Phe62Val	rs1553492074	missense variant	-	NC_000002.12:g.70465647A>C	gnomAD
TGFA	P01135	p.Val64Met	rs782323977	missense variant	-	NC_000002.12:g.70465641C>T	ExAC,gnomAD
TGFA	P01135	p.Glu66Asp	rs1381914629	missense variant	-	NC_000002.12:g.70465633C>G	TOPMed
TGFA	P01135	p.Asp67Asn	rs1553492070	missense variant	-	NC_000002.12:g.70465632C>T	gnomAD
TGFA	P01135	p.Asp67Glu	rs782280290	missense variant	-	NC_000002.12:g.70465630G>C	ExAC,gnomAD
TGFA	P01135	p.Asp67Glu	rs782280290	missense variant	-	NC_000002.12:g.70465630G>T	ExAC,gnomAD
TGFA	P01135	p.Pro69Ser	rs782681901	missense variant	-	NC_000002.12:g.70465626G>A	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala70Val	rs1553492067	missense variant	-	NC_000002.12:g.70465622G>A	gnomAD
TGFA	P01135	p.Cys71Ser	rs1553492059	missense variant	-	NC_000002.12:g.70465620A>T	gnomAD
TGFA	P01135	p.Val72Ile	rs1553492054	missense variant	-	NC_000002.12:g.70465617C>T	gnomAD
TGFA	P01135	p.His74Arg	rs782068767	missense variant	-	NC_000002.12:g.70456483T>C	ExAC,gnomAD
TGFA	P01135	p.Val78Ile	rs148679837	missense variant	-	NC_000002.12:g.70456472C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Val78Ala	rs782244656	missense variant	-	NC_000002.12:g.70456471A>G	ExAC,gnomAD
TGFA	P01135	p.Arg81His	rs1553490570	missense variant	-	NC_000002.12:g.70456462C>T	gnomAD
TGFA	P01135	p.Arg81Cys	rs1377948470	missense variant	-	NC_000002.12:g.70456463G>A	TOPMed,gnomAD
TGFA	P01135	p.Ala85Val	rs1418346765	missense variant	-	NC_000002.12:g.70456450G>A	TOPMed,gnomAD
TGFA	P01135	p.Val90Met	rs782577747	missense variant	-	NC_000002.12:g.70456436C>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Val91Met	rs782531188	missense variant	-	NC_000002.12:g.70456433C>T	ExAC,gnomAD
TGFA	P01135	p.Ala93Thr	rs1553490560	missense variant	-	NC_000002.12:g.70456427C>T	gnomAD
TGFA	P01135	p.Lys97Gln	rs539481707	missense variant	-	NC_000002.12:g.70456415T>G	1000Genomes,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala99Thr	rs1553490554	missense variant	-	NC_000002.12:g.70456409C>T	gnomAD
TGFA	P01135	p.Ala99Asp	rs1553490550	missense variant	-	NC_000002.12:g.70456408G>T	gnomAD
TGFA	P01135	p.Ile100Thr	rs1553490548	missense variant	-	NC_000002.12:g.70456405A>G	gnomAD
TGFA	P01135	p.Thr101Ser	rs373035967	missense variant	-	NC_000002.12:g.70456402G>C	ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Thr101Ala	rs781983111	missense variant	-	NC_000002.12:g.70456403T>C	TOPMed,gnomAD
TGFA	P01135	p.Thr101Asn	rs373035967	missense variant	-	NC_000002.12:g.70456402G>T	ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala102Thr	rs570448487	missense variant	-	NC_000002.12:g.70456400C>T	1000Genomes,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Leu103Phe	rs1553490542	missense variant	-	NC_000002.12:g.70456395C>G	gnomAD
TGFA	P01135	p.Leu103Trp	rs1553490544	missense variant	-	NC_000002.12:g.70456396A>C	gnomAD
TGFA	P01135	p.Val105Met	rs527352558	missense variant	-	NC_000002.12:g.70456391C>T	1000Genomes,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Val105Leu	rs527352558	missense variant	-	NC_000002.12:g.70456391C>A	1000Genomes,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ser107Phe	COSM3910524	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70456384G>A	NCI-TCGA Cosmic
TGFA	P01135	p.Ile108Val	rs1438573302	missense variant	-	NC_000002.12:g.70456382T>C	TOPMed
TGFA	P01135	p.Val109Met	rs11466259	missense variant	-	NC_000002.12:g.70456379C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Val109Met	rs11466259	missense variant	-	NC_000002.12:g.70456379C>T	UniProt,dbSNP
TGFA	P01135	p.Val109Met	VAR_024271	missense variant	-	NC_000002.12:g.70456379C>T	UniProt
TGFA	P01135	p.Ala110Thr	rs1553490529	missense variant	-	NC_000002.12:g.70456376C>T	gnomAD
TGFA	P01135	p.Ala112Thr	rs1553490525	missense variant	-	NC_000002.12:g.70456370C>T	gnomAD
TGFA	P01135	p.Ala112Val	COSM3426636	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70456369G>A	NCI-TCGA Cosmic
TGFA	P01135	p.Val113Ile	rs782173840	missense variant	-	NC_000002.12:g.70456367C>T	ExAC,gnomAD
TGFA	P01135	p.Leu114Phe	rs1553490524	missense variant	-	NC_000002.12:g.70456364G>A	gnomAD
TGFA	P01135	p.Cys118Arg	rs1553490518	missense variant	-	NC_000002.12:g.70456352A>G	gnomAD
TGFA	P01135	p.Ile121Met	rs1553490513	missense variant	-	NC_000002.12:g.70456341T>C	gnomAD
TGFA	P01135	p.Cys123Phe	rs1465708840	missense variant	-	NC_000002.12:g.70453325C>A	TOPMed,gnomAD
TGFA	P01135	p.Cys124Arg	rs1191020370	missense variant	-	NC_000002.12:g.70453323A>G	TOPMed,gnomAD
TGFA	P01135	p.Cys124Phe	rs1236281679	missense variant	-	NC_000002.12:g.70453322C>A	TOPMed
TGFA	P01135	p.Val126Ile	rs781896307	missense variant	-	NC_000002.12:g.70453317C>T	gnomAD
TGFA	P01135	p.Val126Leu	rs781896307	missense variant	-	NC_000002.12:g.70453317C>G	gnomAD
TGFA	P01135	p.Arg127Gln	rs146962706	missense variant	-	NC_000002.12:g.70453313C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.Arg127Ter	rs782253342	stop gained	-	NC_000002.12:g.70453314G>A	ExAC,gnomAD
TGFA	P01135	p.His129Tyr	rs1553489984	missense variant	-	NC_000002.12:g.70453308G>A	gnomAD
TGFA	P01135	p.Cys130Ser	rs782356331	missense variant	-	NC_000002.12:g.70453304C>G	ExAC
TGFA	P01135	p.Cys130Arg	rs1553489982	missense variant	-	NC_000002.12:g.70453305A>G	gnomAD
TGFA	P01135	p.Glu131Val	rs1553489977	missense variant	-	NC_000002.12:g.70453301T>A	gnomAD
TGFA	P01135	p.Glu131Lys	rs782179752	missense variant	-	NC_000002.12:g.70453302C>T	ExAC,gnomAD
TGFA	P01135	p.Trp132Ter	rs1553489976	stop gained	-	NC_000002.12:g.70453298C>T	gnomAD
TGFA	P01135	p.Trp132Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.70453297_70453298insAGCCTTAGCTGTCTTGAAGAGGCCAGACATTT	NCI-TCGA
TGFA	P01135	p.Arg134Gln	rs372158742	missense variant	-	NC_000002.12:g.70453292C>T	ESP,ExAC,gnomAD
TGFA	P01135	p.Arg134Trp	rs782586279	missense variant	-	NC_000002.12:g.70453293G>A	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Leu136His	rs200451222	missense variant	-	NC_000002.12:g.70453286A>T	TOPMed
TGFA	P01135	p.Leu136Phe	rs1416150018	missense variant	-	NC_000002.12:g.70453287G>A	TOPMed
TGFA	P01135	p.Ile137Met	rs781911960	missense variant	-	NC_000002.12:g.70453282G>C	ExAC,gnomAD
TGFA	P01135	p.Arg139Gln	rs554966762	missense variant	-	NC_000002.12:g.70453277C>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Arg139Pro	rs554966762	missense variant	-	NC_000002.12:g.70453277C>G	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Arg139Trp	rs147241222	missense variant	-	NC_000002.12:g.70453278G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFA	P01135	p.His140Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70453275G>A	NCI-TCGA
TGFA	P01135	p.His140Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70453274T>C	NCI-TCGA
TGFA	P01135	p.Glu141Lys	rs781826380	missense variant	-	NC_000002.12:g.70453272C>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Glu141Ala	rs782700834	missense variant	-	NC_000002.12:g.70453271T>G	ExAC,gnomAD
TGFA	P01135	p.Glu141Gln	rs781826380	missense variant	-	NC_000002.12:g.70453272C>G	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ser144Arg	rs782058394	missense variant	-	NC_000002.12:g.70453261G>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala145Gly	rs782808061	missense variant	-	NC_000002.12:g.70453259G>C	ExAC,gnomAD
TGFA	P01135	p.Ala145Thr	rs535108529	missense variant	-	NC_000002.12:g.70453260C>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Leu146Val	rs1348188205	missense variant	-	NC_000002.12:g.70453257G>C	TOPMed
TGFA	P01135	p.Leu146Phe	COSM3582796	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70453257G>A	NCI-TCGA Cosmic
TGFA	P01135	p.Leu147Gln	rs1227430130	missense variant	-	NC_000002.12:g.70453253A>T	TOPMed
TGFA	P01135	p.Gly149Glu	rs782115973	missense variant	-	NC_000002.12:g.70453247C>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Gly149Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70453247C>G	NCI-TCGA
TGFA	P01135	p.Arg150Thr	rs782001599	missense variant	-	NC_000002.12:g.70453244C>G	ExAC,gnomAD
TGFA	P01135	p.Arg150Ser	rs1553489950	missense variant	-	NC_000002.12:g.70453243T>G	gnomAD
TGFA	P01135	p.Ala152Asp	rs782326575	missense variant	-	NC_000002.12:g.70453238G>T	ExAC,gnomAD
TGFA	P01135	p.Ala152Thr	rs782095962	missense variant	-	NC_000002.12:g.70453239C>T	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Ala152Val	rs782326575	missense variant	-	NC_000002.12:g.70453238G>A	ExAC,gnomAD
TGFA	P01135	p.Cys153Ter	rs199594512	stop gained	-	NC_000002.12:g.70453234G>T	ExAC,gnomAD
TGFA	P01135	p.Cys153Tyr	rs1211195333	missense variant	-	NC_000002.12:g.70453235C>T	TOPMed
TGFA	P01135	p.Ser156Leu	rs782687296	missense variant	-	NC_000002.12:g.70453226G>A	ExAC,TOPMed,gnomAD
TGFA	P01135	p.Thr158Pro	rs1181697045	missense variant	-	NC_000002.12:g.70453221T>G	TOPMed
TGFA	P01135	p.Val159Ala	rs1553489514	missense variant	-	NC_000002.12:g.70450866A>G	gnomAD
TGFA	P01135	p.Val160Ile	rs377029144	missense variant	-	NC_000002.12:g.70450864C>T	ESP,ExAC,gnomAD
TGFA	P01135	p.Ter161TrpGluUnkThrTerUnkUnk	NCI-TCGA novel	stop lost	-	NC_000002.12:g.70450859T>C	NCI-TCGA
TGFB1	P01137	p.Leu10Pro	VAR_016171	Missense	-	-	UniProt
TGFB1	P01137	p.Arg25Pro	rs1800471	missense variant	-	NC_000019.10:g.41352971C>G	UniProt,dbSNP
TGFB1	P01137	p.Arg25Pro	VAR_016172	missense variant	-	NC_000019.10:g.41352971C>G	UniProt
TGFB1	P01137	p.Arg45Cys	VAR_081584	Missense	Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]	-	UniProt
TGFB1	P01137	p.Tyr81His	VAR_017607	Missense	Camurati-Engelmann disease (CAEND) [MIM:131300]	-	UniProt
TGFB1	P01137	p.Arg110Cys	VAR_081585	Missense	Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]	-	UniProt
TGFB1	P01137	p.Arg218His	VAR_017609	Missense	Camurati-Engelmann disease (CAEND) [MIM:131300]	-	UniProt
TGFB1	P01137	p.Arg218Cys	VAR_017608	Missense	Camurati-Engelmann disease (CAEND) [MIM:131300]	-	UniProt
TGFB1	P01137	p.His222Asp	VAR_017610	Missense	Camurati-Engelmann disease (CAEND) [MIM:131300]	-	UniProt
TGFB1	P01137	p.Cys223Arg	VAR_067304	Missense	Camurati-Engelmann disease (CAEND) [MIM:131300]	-	UniProt
TGFB1	P01137	p.Cys223Gly	VAR_067303	Missense	Camurati-Engelmann disease (CAEND) [MIM:131300]	-	UniProt
TGFB1	P01137	p.Cys225Arg	VAR_017611	Missense	Camurati-Engelmann disease (CAEND) [MIM:131300]	-	UniProt
TGFB1	P01137	p.Thr263Ile	rs1800472	missense variant	-	NC_000019.10:g.41341955G>A	UniProt,dbSNP
TGFB1	P01137	p.Thr263Ile	VAR_016173	missense variant	-	NC_000019.10:g.41341955G>A	UniProt
TGFB1	P01137	p.Cys387Arg	VAR_081586	Missense	Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213]	-	UniProt
IGF2	P01344	p.Gly2Val	rs781634507	missense variant	-	NC_000011.10:g.2135519C>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly2Glu	rs781634507	missense variant	-	NC_000011.10:g.2135519C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ile3Phe	rs1340808708	missense variant	-	NC_000011.10:g.2135517T>A	gnomAD
IGF2	P01344	p.Pro4Ala	rs1333440627	missense variant	-	NC_000011.10:g.2135514G>C	gnomAD
IGF2	P01344	p.Met5Val	rs1172508915	missense variant	-	NC_000011.10:g.2135511T>C	TOPMed
IGF2	P01344	p.Met5Arg	rs757907236	missense variant	-	NC_000011.10:g.2135510A>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly6Val	rs752191866	missense variant	-	NC_000011.10:g.2135507C>A	ExAC,gnomAD
IGF2	P01344	p.Lys7Asn	rs146334276	missense variant	-	NC_000011.10:g.2135503C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Lys7Thr	rs764865819	missense variant	-	NC_000011.10:g.2135504T>G	ExAC,gnomAD
IGF2	P01344	p.Ser8Ter	RCV000186560	nonsense	Growth restriction, severe, with distinctive facies (GRDF)	NC_000011.10:g.2135501G>T	ClinVar
IGF2	P01344	p.Ser8Ter	rs869320620	stop gained	-	NC_000011.10:g.2135501G>T	TOPMed,gnomAD
IGF2	P01344	p.Ser8Leu	rs869320620	missense variant	-	NC_000011.10:g.2135501G>A	TOPMed,gnomAD
IGF2	P01344	p.Met9Leu	rs1294135404	missense variant	-	NC_000011.10:g.2135499T>G	TOPMed
IGF2	P01344	p.Leu10Pro	rs984257990	missense variant	-	NC_000011.10:g.2135495A>G	TOPMed,gnomAD
IGF2	P01344	p.Leu10Val	rs1361412373	missense variant	-	NC_000011.10:g.2135496G>C	TOPMed
IGF2	P01344	p.Phe15Leu	rs767507381	missense variant	-	NC_000011.10:g.2135481A>G	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Leu16Trp	rs1240151267	missense variant	-	NC_000011.10:g.2135477A>C	gnomAD
IGF2	P01344	p.Ser20Trp	rs142012621	missense variant	-	NC_000011.10:g.2135465G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ser20Leu	rs142012621	missense variant	-	NC_000011.10:g.2135465G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Tyr26Ter	RCV000491853	nonsense	Russell-Silver syndrome (SRS)	NC_000011.10:g.2135446G>C	ClinVar
IGF2	P01344	p.Tyr26Ter	rs1064794050	stop gained	-	NC_000011.10:g.2135446G>C	TOPMed
IGF2	P01344	p.Tyr26Phe	rs1256437532	missense variant	-	NC_000011.10:g.2135447T>A	gnomAD
IGF2	P01344	p.Tyr26Ter	RCV000479354	nonsense	-	NC_000011.10:g.2135446G>C	ClinVar
IGF2	P01344	p.Arg27His	rs1356855570	missense variant	-	NC_000011.10:g.2135444C>T	TOPMed,gnomAD
IGF2	P01344	p.Arg27Cys	rs1230176657	missense variant	-	NC_000011.10:g.2135445G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg27Leu	rs1356855570	missense variant	-	NC_000011.10:g.2135444C>A	TOPMed,gnomAD
IGF2	P01344	p.Arg27Ser	rs1230176657	missense variant	-	NC_000011.10:g.2135445G>T	TOPMed,gnomAD
IGF2	P01344	p.Cys33Arg	RCV000414320	missense variant	-	NC_000011.10:g.2135427A>G	ClinVar
IGF2	P01344	p.Cys33Ter	RCV000412860	nonsense	-	NC_000011.10:g.2135425G>T	ClinVar
IGF2	P01344	p.Cys33Arg	rs1057518115	missense variant	-	NC_000011.10:g.2135427A>G	-
IGF2	P01344	p.Cys33Ter	rs553443857	stop gained	-	NC_000011.10:g.2135425G>T	ExAC,gnomAD
IGF2	P01344	p.Val44Ile	rs747135996	missense variant	-	NC_000011.10:g.2135394C>T	ExAC,gnomAD
IGF2	P01344	p.Arg48Leu	rs778465733	missense variant	-	NC_000011.10:g.2135381C>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg48His	rs778465733	missense variant	-	NC_000011.10:g.2135381C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg48Cys	rs1018841144	missense variant	-	NC_000011.10:g.2135382G>A	TOPMed,gnomAD
IGF2	P01344	p.Ala56Val	rs1268424766	missense variant	-	NC_000011.10:g.2133656G>A	TOPMed
IGF2	P01344	p.Ala56Thr	rs1212009594	missense variant	-	NC_000011.10:g.2133657C>T	TOPMed
IGF2	P01344	p.Ser57Asn	rs1315236317	missense variant	-	NC_000011.10:g.2133653C>T	gnomAD
IGF2	P01344	p.Arg58His	rs761163170	missense variant	-	NC_000011.10:g.2133650C>T	ExAC,gnomAD
IGF2	P01344	p.Arg61His	rs773449505	missense variant	-	NC_000011.10:g.2133641C>T	ExAC,gnomAD
IGF2	P01344	p.Arg62Leu	rs768105151	missense variant	-	NC_000011.10:g.2133638C>A	ExAC,gnomAD
IGF2	P01344	p.Arg62His	rs768105151	missense variant	-	NC_000011.10:g.2133638C>T	ExAC,gnomAD
IGF2	P01344	p.Arg64His	rs369844466	missense variant	-	NC_000011.10:g.2133632C>T	ESP,TOPMed,gnomAD
IGF2	P01344	p.Arg64Cys	rs762200142	missense variant	-	NC_000011.10:g.2133633G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly65Asp	rs150610908	missense variant	-	NC_000011.10:g.2133629C>T	ESP
IGF2	P01344	p.Glu69Gln	rs1472622300	missense variant	-	NC_000011.10:g.2133618C>G	TOPMed
IGF2	P01344	p.Cys71Arg	RCV000731499	missense variant	-	NC_000011.10:g.2133612A>G	ClinVar
IGF2	P01344	p.Arg73Cys	rs1383314827	missense variant	-	NC_000011.10:g.2133606G>A	gnomAD
IGF2	P01344	p.Arg73His	rs745308728	missense variant	-	NC_000011.10:g.2133605C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Thr82Met	rs746888392	missense variant	-	NC_000011.10:g.2133578G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Thr86Ile	rs748117121	missense variant	-	NC_000011.10:g.2133566G>A	ExAC,gnomAD
IGF2	P01344	p.Thr86Pro	rs758164144	missense variant	-	NC_000011.10:g.2133567T>G	ExAC,gnomAD
IGF2	P01344	p.Pro87Ala	rs755066389	missense variant	-	NC_000011.10:g.2133564G>C	ExAC,gnomAD
IGF2	P01344	p.Pro87Thr	rs755066389	missense variant	-	NC_000011.10:g.2133564G>T	ExAC,gnomAD
IGF2	P01344	p.Pro87His	rs1290256492	missense variant	-	NC_000011.10:g.2133563G>T	gnomAD
IGF2	P01344	p.Ala88Thr	rs753904854	missense variant	-	NC_000011.10:g.2133561C>T	ExAC,gnomAD
IGF2	P01344	p.Ala88Pro	rs753904854	missense variant	-	NC_000011.10:g.2133561C>G	ExAC,gnomAD
IGF2	P01344	p.Asp93Asn	rs750845881	missense variant	-	NC_000011.10:g.2133546C>T	ExAC,gnomAD
IGF2	P01344	p.Ser95Leu	rs1457247306	missense variant	-	NC_000011.10:g.2133539G>A	TOPMed,gnomAD
IGF2	P01344	p.Pro97Leu	rs775000758	missense variant	-	NC_000011.10:g.2133533G>A	ExAC,gnomAD
IGF2	P01344	p.Pro98Leu	rs143785521	missense variant	-	NC_000011.10:g.2133530G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro98Gln	rs143785521	missense variant	-	NC_000011.10:g.2133530G>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro102Leu	rs369122420	missense variant	-	NC_000011.10:g.2133518G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg107Ile	rs771744589	missense variant	-	NC_000011.10:g.2133210C>A	ExAC,gnomAD
IGF2	P01344	p.Pro109Thr	rs774104462	missense variant	-	NC_000011.10:g.2133205G>T	ExAC,gnomAD
IGF2	P01344	p.Val110Met	rs376878619	missense variant	-	NC_000011.10:g.2133202C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val110Ala	rs769766130	missense variant	-	NC_000011.10:g.2133201A>G	ExAC,gnomAD
IGF2	P01344	p.Val110Leu	rs376878619	missense variant	-	NC_000011.10:g.2133202C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly111Val	rs745901132	missense variant	-	NC_000011.10:g.2133198C>A	ExAC,gnomAD
IGF2	P01344	p.Phe114Ser	rs1301744036	missense variant	-	NC_000011.10:g.2133189A>G	gnomAD
IGF2	P01344	p.Lys120Asn	rs14367	missense variant	-	NC_000011.10:g.2133170C>A	UniProt,dbSNP
IGF2	P01344	p.Lys120Asn	VAR_011959	missense variant	-	NC_000011.10:g.2133170C>A	UniProt
IGF2	P01344	p.Lys120Asn	rs14367	missense variant	-	NC_000011.10:g.2133170C>A	-
IGF2	P01344	p.Arg125Cys	rs781325329	missense variant	-	NC_000011.10:g.2133157G>A	ExAC,gnomAD
IGF2	P01344	p.Arg125His	rs757547834	missense variant	-	NC_000011.10:g.2133156C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg127Leu	rs1191719522	missense variant	-	NC_000011.10:g.2133150C>A	TOPMed,gnomAD
IGF2	P01344	p.Arg127His	rs1191719522	missense variant	-	NC_000011.10:g.2133150C>T	TOPMed,gnomAD
IGF2	P01344	p.Arg127Cys	rs1372848092	missense variant	-	NC_000011.10:g.2133151G>A	gnomAD
IGF2	P01344	p.Pro131Leu	rs1257021707	missense variant	-	NC_000011.10:g.2133138G>A	gnomAD
IGF2	P01344	p.Leu133Val	rs530101369	missense variant	-	NC_000011.10:g.2133133G>C	1000Genomes,gnomAD
IGF2	P01344	p.Leu133Phe	rs530101369	missense variant	-	NC_000011.10:g.2133133G>A	1000Genomes,gnomAD
IGF2	P01344	p.Arg135Cys	rs1459983752	missense variant	-	NC_000011.10:g.2133127G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg135His	rs1260271030	missense variant	-	NC_000011.10:g.2133126C>T	gnomAD
IGF2	P01344	p.Ala136Gly	rs778304668	missense variant	-	NC_000011.10:g.2133123G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg137Gly	rs1338558695	missense variant	-	NC_000011.10:g.2133121G>C	TOPMed,gnomAD
IGF2	P01344	p.Arg137His	rs1268163024	missense variant	-	NC_000011.10:g.2133120C>T	gnomAD
IGF2	P01344	p.Arg137Cys	rs1338558695	missense variant	-	NC_000011.10:g.2133121G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg138Gly	rs371682005	missense variant	-	NC_000011.10:g.2133118G>C	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg138Trp	rs371682005	missense variant	-	NC_000011.10:g.2133118G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg138Gln	rs1413387573	missense variant	-	NC_000011.10:g.2133117C>T	TOPMed
IGF2	P01344	p.Gly139Val	rs369452652	missense variant	-	NC_000011.10:g.2133114C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly139Asp	rs369452652	missense variant	-	NC_000011.10:g.2133114C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val141Leu	rs375129654	missense variant	-	NC_000011.10:g.2133109C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val141Met	rs375129654	missense variant	-	NC_000011.10:g.2133109C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Leu142Phe	rs1006709496	missense variant	-	NC_000011.10:g.2133106G>A	TOPMed
IGF2	P01344	p.Ala143Thr	rs200836416	missense variant	-	NC_000011.10:g.2133103C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala143Ser	rs200836416	missense variant	-	NC_000011.10:g.2133103C>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Lys144Gln	rs761436263	missense variant	-	NC_000011.10:g.2133100T>G	ExAC,gnomAD
IGF2	P01344	p.Leu146Pro	rs1396314297	missense variant	-	NC_000011.10:g.2133093A>G	gnomAD
IGF2	P01344	p.Glu147Lys	rs150866176	missense variant	-	NC_000011.10:g.2133091C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Gln	rs150866176	missense variant	-	NC_000011.10:g.2133091C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Asp	rs139194127	missense variant	-	NC_000011.10:g.2133089C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Val	rs1291850589	missense variant	-	NC_000011.10:g.2133090T>A	TOPMed
IGF2	P01344	p.Ala148Glu	rs368814253	missense variant	-	NC_000011.10:g.2133087G>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala148Val	rs368814253	missense variant	-	NC_000011.10:g.2133087G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu151Lys	rs747266091	missense variant	-	NC_000011.10:g.2133079C>T	ExAC,gnomAD
IGF2	P01344	p.Ala152Pro	rs778075715	missense variant	-	NC_000011.10:g.2133076C>G	ExAC,gnomAD
IGF2	P01344	p.Arg154His	rs146962483	missense variant	-	NC_000011.10:g.2133069C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg154Pro	rs146962483	missense variant	-	NC_000011.10:g.2133069C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg154Cys	rs758849172	missense variant	-	NC_000011.10:g.2133070G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg156His	rs61732764	missense variant	-	NC_000011.10:g.2133063C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg156Cys	rs1243657106	missense variant	-	NC_000011.10:g.2133064G>A	TOPMed,gnomAD
IGF2	P01344	p.Pro157Ter	RCV000598672	nonsense	-	NC_000011.10:g.2133061del	ClinVar
IGF2	P01344	p.Pro157Ala	rs755482890	missense variant	-	NC_000011.10:g.2133061G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Thr	rs755482890	missense variant	-	NC_000011.10:g.2133061G>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Ser	rs755482890	missense variant	-	NC_000011.10:g.2133061G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ile159Leu	rs1407468267	missense variant	-	NC_000011.10:g.2133055T>G	gnomAD
IGF2	P01344	p.Ala160Val	rs1032405005	missense variant	-	NC_000011.10:g.2133051G>A	gnomAD
IGF2	P01344	p.Leu161Pro	rs1226943034	missense variant	-	NC_000011.10:g.2133048A>G	gnomAD
IGF2	P01344	p.Asp165Glu	rs763681027	missense variant	-	NC_000011.10:g.2133035G>C	ExAC,gnomAD
IGF2	P01344	p.Asp165Gly	rs1469636028	missense variant	-	NC_000011.10:g.2133036T>C	gnomAD
IGF2	P01344	p.Ala167Thr	rs377316111	missense variant	-	NC_000011.10:g.2133031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala167Ser	rs377316111	missense variant	-	NC_000011.10:g.2133031C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly169Trp	rs554804044	missense variant	-	NC_000011.10:g.2133025C>A	1000Genomes,ExAC,gnomAD
IGF2	P01344	p.Gly169Arg	rs554804044	missense variant	-	NC_000011.10:g.2133025C>T	1000Genomes,ExAC,gnomAD
IGF2	P01344	p.Gly170Asp	rs747026832	missense variant	-	NC_000011.10:g.2133021C>T	ExAC,gnomAD
IGF2	P01344	p.Gly170Ser	rs771138084	missense variant	-	NC_000011.10:g.2133022C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala171Val	rs773624887	missense variant	-	NC_000011.10:g.2133018G>A	ExAC,gnomAD
IGF2	P01344	p.Ala171Thr	rs1347870712	missense variant	-	NC_000011.10:g.2133019C>T	gnomAD
IGF2	P01344	p.Pro172Ser	rs1322797114	missense variant	-	NC_000011.10:g.2133016G>A	gnomAD
IGF2	P01344	p.Pro173Arg	rs1050342	missense variant	-	NC_000011.10:g.2133012G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Ser	rs11545014	missense variant	-	NC_000011.10:g.2133013G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Leu	rs1050342	missense variant	-	NC_000011.10:g.2133012G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Ala	rs11545014	missense variant	-	NC_000011.10:g.2133013G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Gln	rs1050342	missense variant	-	NC_000011.10:g.2133012G>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu174Asp	rs749836523	missense variant	-	NC_000011.10:g.2133008C>G	ExAC,gnomAD
IGF2	P01344	p.Glu174Ter	RCV000520721	frameshift	-	NC_000011.10:g.2133018dup	ClinVar
IGF2	P01344	p.Ala176Thr	rs1363016357	missense variant	-	NC_000011.10:g.2133004C>T	gnomAD
IGF2	P01344	p.Ser177Arg	rs1160380880	missense variant	-	NC_000011.10:g.2132999G>T	TOPMed,gnomAD
IGF2	P01344	p.Asn178Ser	rs1421347729	missense variant	-	NC_000011.10:g.2132997T>C	gnomAD
IGF2	P01344	p.Arg179Trp	rs1014211286	missense variant	-	NC_000011.10:g.2132995G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg179Gly	rs1014211286	missense variant	-	NC_000011.10:g.2132995G>C	TOPMed,gnomAD
IGF2	P01344	p.Arg179Gln	rs565575035	missense variant	-	NC_000011.10:g.2132994C>T	ExAC,gnomAD
IGF2	P01344	p.Lys180Asn	rs12993	missense variant	-	NC_000011.10:g.2132990C>A	UniProt,dbSNP
IGF2	P01344	p.Lys180Asn	VAR_011961	missense variant	-	NC_000011.10:g.2132990C>A	UniProt
IGF2	P01344	p.Lys180Asn	rs12993	missense variant	-	NC_000011.10:g.2132990C>A	-
IGF2	P01344	p.Gly2Val	rs781634507	missense variant	-	NC_000011.10:g.2135519C>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly2Glu	rs781634507	missense variant	-	NC_000011.10:g.2135519C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ile3Phe	rs1340808708	missense variant	-	NC_000011.10:g.2135517T>A	gnomAD
IGF2	P01344	p.Pro4Ala	rs1333440627	missense variant	-	NC_000011.10:g.2135514G>C	gnomAD
IGF2	P01344	p.Met5Arg	rs757907236	missense variant	-	NC_000011.10:g.2135510A>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Met5Val	rs1172508915	missense variant	-	NC_000011.10:g.2135511T>C	TOPMed
IGF2	P01344	p.Gly6Val	rs752191866	missense variant	-	NC_000011.10:g.2135507C>A	ExAC,gnomAD
IGF2	P01344	p.Lys7Asn	rs146334276	missense variant	-	NC_000011.10:g.2135503C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Lys7Thr	rs764865819	missense variant	-	NC_000011.10:g.2135504T>G	ExAC,gnomAD
IGF2	P01344	p.Ser8Ter	rs869320620	stop gained	-	NC_000011.10:g.2135501G>T	TOPMed,gnomAD
IGF2	P01344	p.Ser8Ter	RCV000186560	nonsense	Growth restriction, severe, with distinctive facies (GRDF)	NC_000011.10:g.2135501G>T	ClinVar
IGF2	P01344	p.Ser8Leu	rs869320620	missense variant	-	NC_000011.10:g.2135501G>A	TOPMed,gnomAD
IGF2	P01344	p.Met9Leu	rs1294135404	missense variant	-	NC_000011.10:g.2135499T>G	TOPMed
IGF2	P01344	p.Leu10Pro	rs984257990	missense variant	-	NC_000011.10:g.2135495A>G	TOPMed,gnomAD
IGF2	P01344	p.Leu10Val	rs1361412373	missense variant	-	NC_000011.10:g.2135496G>C	TOPMed
IGF2	P01344	p.Phe15Leu	rs767507381	missense variant	-	NC_000011.10:g.2135481A>G	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Leu16Trp	rs1240151267	missense variant	-	NC_000011.10:g.2135477A>C	gnomAD
IGF2	P01344	p.Ser20Leu	rs142012621	missense variant	-	NC_000011.10:g.2135465G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ser20Trp	rs142012621	missense variant	-	NC_000011.10:g.2135465G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Tyr26Ter	RCV000479354	nonsense	-	NC_000011.10:g.2135446G>C	ClinVar
IGF2	P01344	p.Tyr26Ter	rs1064794050	stop gained	-	NC_000011.10:g.2135446G>C	TOPMed
IGF2	P01344	p.Tyr26Ter	RCV000491853	nonsense	Russell-Silver syndrome (SRS)	NC_000011.10:g.2135446G>C	ClinVar
IGF2	P01344	p.Tyr26Phe	rs1256437532	missense variant	-	NC_000011.10:g.2135447T>A	gnomAD
IGF2	P01344	p.Arg27His	rs1356855570	missense variant	-	NC_000011.10:g.2135444C>T	TOPMed,gnomAD
IGF2	P01344	p.Arg27Ser	rs1230176657	missense variant	-	NC_000011.10:g.2135445G>T	TOPMed,gnomAD
IGF2	P01344	p.Arg27Leu	rs1356855570	missense variant	-	NC_000011.10:g.2135444C>A	TOPMed,gnomAD
IGF2	P01344	p.Arg27Cys	rs1230176657	missense variant	-	NC_000011.10:g.2135445G>A	TOPMed,gnomAD
IGF2	P01344	p.Cys33Arg	rs1057518115	missense variant	-	NC_000011.10:g.2135427A>G	-
IGF2	P01344	p.Cys33Ter	RCV000412860	nonsense	-	NC_000011.10:g.2135425G>T	ClinVar
IGF2	P01344	p.Cys33Arg	RCV000414320	missense variant	-	NC_000011.10:g.2135427A>G	ClinVar
IGF2	P01344	p.Cys33Ter	rs553443857	stop gained	-	NC_000011.10:g.2135425G>T	ExAC,gnomAD
IGF2	P01344	p.Val44Ile	rs747135996	missense variant	-	NC_000011.10:g.2135394C>T	ExAC,gnomAD
IGF2	P01344	p.Arg48His	rs778465733	missense variant	-	NC_000011.10:g.2135381C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg48Leu	rs778465733	missense variant	-	NC_000011.10:g.2135381C>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg48Cys	rs1018841144	missense variant	-	NC_000011.10:g.2135382G>A	TOPMed,gnomAD
IGF2	P01344	p.Ala56Val	rs1268424766	missense variant	-	NC_000011.10:g.2133656G>A	TOPMed
IGF2	P01344	p.Ala56Thr	rs1212009594	missense variant	-	NC_000011.10:g.2133657C>T	TOPMed
IGF2	P01344	p.Ser57Asn	rs1315236317	missense variant	-	NC_000011.10:g.2133653C>T	gnomAD
IGF2	P01344	p.Arg58His	rs761163170	missense variant	-	NC_000011.10:g.2133650C>T	ExAC,gnomAD
IGF2	P01344	p.Arg61His	rs773449505	missense variant	-	NC_000011.10:g.2133641C>T	ExAC,gnomAD
IGF2	P01344	p.Arg62Leu	rs768105151	missense variant	-	NC_000011.10:g.2133638C>A	ExAC,gnomAD
IGF2	P01344	p.Arg62His	rs768105151	missense variant	-	NC_000011.10:g.2133638C>T	ExAC,gnomAD
IGF2	P01344	p.Arg64His	rs369844466	missense variant	-	NC_000011.10:g.2133632C>T	ESP,TOPMed,gnomAD
IGF2	P01344	p.Arg64Cys	rs762200142	missense variant	-	NC_000011.10:g.2133633G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly65Asp	rs150610908	missense variant	-	NC_000011.10:g.2133629C>T	ESP
IGF2	P01344	p.Glu69Gln	rs1472622300	missense variant	-	NC_000011.10:g.2133618C>G	TOPMed
IGF2	P01344	p.Cys71Arg	RCV000731499	missense variant	-	NC_000011.10:g.2133612A>G	ClinVar
IGF2	P01344	p.Arg73Cys	rs1383314827	missense variant	-	NC_000011.10:g.2133606G>A	gnomAD
IGF2	P01344	p.Arg73His	rs745308728	missense variant	-	NC_000011.10:g.2133605C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Thr82Met	rs746888392	missense variant	-	NC_000011.10:g.2133578G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Thr86Ile	rs748117121	missense variant	-	NC_000011.10:g.2133566G>A	ExAC,gnomAD
IGF2	P01344	p.Thr86Pro	rs758164144	missense variant	-	NC_000011.10:g.2133567T>G	ExAC,gnomAD
IGF2	P01344	p.Pro87Thr	rs755066389	missense variant	-	NC_000011.10:g.2133564G>T	ExAC,gnomAD
IGF2	P01344	p.Pro87Ala	rs755066389	missense variant	-	NC_000011.10:g.2133564G>C	ExAC,gnomAD
IGF2	P01344	p.Pro87His	rs1290256492	missense variant	-	NC_000011.10:g.2133563G>T	gnomAD
IGF2	P01344	p.Ala88Thr	rs753904854	missense variant	-	NC_000011.10:g.2133561C>T	ExAC,gnomAD
IGF2	P01344	p.Ala88Pro	rs753904854	missense variant	-	NC_000011.10:g.2133561C>G	ExAC,gnomAD
IGF2	P01344	p.Asp93Asn	rs750845881	missense variant	-	NC_000011.10:g.2133546C>T	ExAC,gnomAD
IGF2	P01344	p.Ser95Leu	rs1457247306	missense variant	-	NC_000011.10:g.2133539G>A	TOPMed,gnomAD
IGF2	P01344	p.Pro97Leu	rs775000758	missense variant	-	NC_000011.10:g.2133533G>A	ExAC,gnomAD
IGF2	P01344	p.Pro98Leu	rs143785521	missense variant	-	NC_000011.10:g.2133530G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro98Gln	rs143785521	missense variant	-	NC_000011.10:g.2133530G>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro102Leu	rs369122420	missense variant	-	NC_000011.10:g.2133518G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg107Ile	rs771744589	missense variant	-	NC_000011.10:g.2133210C>A	ExAC,gnomAD
IGF2	P01344	p.Pro109Thr	rs774104462	missense variant	-	NC_000011.10:g.2133205G>T	ExAC,gnomAD
IGF2	P01344	p.Val110Met	rs376878619	missense variant	-	NC_000011.10:g.2133202C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val110Ala	rs769766130	missense variant	-	NC_000011.10:g.2133201A>G	ExAC,gnomAD
IGF2	P01344	p.Val110Leu	rs376878619	missense variant	-	NC_000011.10:g.2133202C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly111Val	rs745901132	missense variant	-	NC_000011.10:g.2133198C>A	ExAC,gnomAD
IGF2	P01344	p.Phe114Ser	rs1301744036	missense variant	-	NC_000011.10:g.2133189A>G	gnomAD
IGF2	P01344	p.Lys120Asn	rs14367	missense variant	-	NC_000011.10:g.2133170C>A	-
IGF2	P01344	p.Lys120Asn	rs14367	missense variant	-	NC_000011.10:g.2133170C>A	UniProt,dbSNP
IGF2	P01344	p.Lys120Asn	VAR_011959	missense variant	-	NC_000011.10:g.2133170C>A	UniProt
IGF2	P01344	p.Arg125Cys	rs781325329	missense variant	-	NC_000011.10:g.2133157G>A	ExAC,gnomAD
IGF2	P01344	p.Arg125His	rs757547834	missense variant	-	NC_000011.10:g.2133156C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg127Leu	rs1191719522	missense variant	-	NC_000011.10:g.2133150C>A	TOPMed,gnomAD
IGF2	P01344	p.Arg127Cys	rs1372848092	missense variant	-	NC_000011.10:g.2133151G>A	gnomAD
IGF2	P01344	p.Arg127His	rs1191719522	missense variant	-	NC_000011.10:g.2133150C>T	TOPMed,gnomAD
IGF2	P01344	p.Pro131Leu	rs1257021707	missense variant	-	NC_000011.10:g.2133138G>A	gnomAD
IGF2	P01344	p.Leu133Phe	rs530101369	missense variant	-	NC_000011.10:g.2133133G>A	1000Genomes,gnomAD
IGF2	P01344	p.Leu133Val	rs530101369	missense variant	-	NC_000011.10:g.2133133G>C	1000Genomes,gnomAD
IGF2	P01344	p.Arg135His	rs1260271030	missense variant	-	NC_000011.10:g.2133126C>T	gnomAD
IGF2	P01344	p.Arg135Cys	rs1459983752	missense variant	-	NC_000011.10:g.2133127G>A	TOPMed,gnomAD
IGF2	P01344	p.Ala136Gly	rs778304668	missense variant	-	NC_000011.10:g.2133123G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg137Gly	rs1338558695	missense variant	-	NC_000011.10:g.2133121G>C	TOPMed,gnomAD
IGF2	P01344	p.Arg137Cys	rs1338558695	missense variant	-	NC_000011.10:g.2133121G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg137His	rs1268163024	missense variant	-	NC_000011.10:g.2133120C>T	gnomAD
IGF2	P01344	p.Arg138Gly	rs371682005	missense variant	-	NC_000011.10:g.2133118G>C	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg138Trp	rs371682005	missense variant	-	NC_000011.10:g.2133118G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg138Gln	rs1413387573	missense variant	-	NC_000011.10:g.2133117C>T	TOPMed
IGF2	P01344	p.Gly139Val	rs369452652	missense variant	-	NC_000011.10:g.2133114C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly139Asp	rs369452652	missense variant	-	NC_000011.10:g.2133114C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val141Leu	rs375129654	missense variant	-	NC_000011.10:g.2133109C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val141Met	rs375129654	missense variant	-	NC_000011.10:g.2133109C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Leu142Phe	rs1006709496	missense variant	-	NC_000011.10:g.2133106G>A	TOPMed
IGF2	P01344	p.Ala143Thr	rs200836416	missense variant	-	NC_000011.10:g.2133103C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala143Ser	rs200836416	missense variant	-	NC_000011.10:g.2133103C>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Lys144Gln	rs761436263	missense variant	-	NC_000011.10:g.2133100T>G	ExAC,gnomAD
IGF2	P01344	p.Leu146Pro	rs1396314297	missense variant	-	NC_000011.10:g.2133093A>G	gnomAD
IGF2	P01344	p.Glu147Gln	rs150866176	missense variant	-	NC_000011.10:g.2133091C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Asp	rs139194127	missense variant	-	NC_000011.10:g.2133089C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Lys	rs150866176	missense variant	-	NC_000011.10:g.2133091C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Val	rs1291850589	missense variant	-	NC_000011.10:g.2133090T>A	TOPMed
IGF2	P01344	p.Ala148Val	rs368814253	missense variant	-	NC_000011.10:g.2133087G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala148Glu	rs368814253	missense variant	-	NC_000011.10:g.2133087G>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu151Lys	rs747266091	missense variant	-	NC_000011.10:g.2133079C>T	ExAC,gnomAD
IGF2	P01344	p.Ala152Pro	rs778075715	missense variant	-	NC_000011.10:g.2133076C>G	ExAC,gnomAD
IGF2	P01344	p.Arg154His	rs146962483	missense variant	-	NC_000011.10:g.2133069C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg154Pro	rs146962483	missense variant	-	NC_000011.10:g.2133069C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg154Cys	rs758849172	missense variant	-	NC_000011.10:g.2133070G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg156Cys	rs1243657106	missense variant	-	NC_000011.10:g.2133064G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg156His	rs61732764	missense variant	-	NC_000011.10:g.2133063C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Ala	rs755482890	missense variant	-	NC_000011.10:g.2133061G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Thr	rs755482890	missense variant	-	NC_000011.10:g.2133061G>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Ser	rs755482890	missense variant	-	NC_000011.10:g.2133061G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Ter	RCV000598672	nonsense	-	NC_000011.10:g.2133061del	ClinVar
IGF2	P01344	p.Ile159Leu	rs1407468267	missense variant	-	NC_000011.10:g.2133055T>G	gnomAD
IGF2	P01344	p.Ala160Val	rs1032405005	missense variant	-	NC_000011.10:g.2133051G>A	gnomAD
IGF2	P01344	p.Leu161Pro	rs1226943034	missense variant	-	NC_000011.10:g.2133048A>G	gnomAD
IGF2	P01344	p.Asp165Glu	rs763681027	missense variant	-	NC_000011.10:g.2133035G>C	ExAC,gnomAD
IGF2	P01344	p.Asp165Gly	rs1469636028	missense variant	-	NC_000011.10:g.2133036T>C	gnomAD
IGF2	P01344	p.Ala167Ser	rs377316111	missense variant	-	NC_000011.10:g.2133031C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala167Thr	rs377316111	missense variant	-	NC_000011.10:g.2133031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly169Trp	rs554804044	missense variant	-	NC_000011.10:g.2133025C>A	1000Genomes,ExAC,gnomAD
IGF2	P01344	p.Gly169Arg	rs554804044	missense variant	-	NC_000011.10:g.2133025C>T	1000Genomes,ExAC,gnomAD
IGF2	P01344	p.Gly170Ser	rs771138084	missense variant	-	NC_000011.10:g.2133022C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly170Asp	rs747026832	missense variant	-	NC_000011.10:g.2133021C>T	ExAC,gnomAD
IGF2	P01344	p.Ala171Thr	rs1347870712	missense variant	-	NC_000011.10:g.2133019C>T	gnomAD
IGF2	P01344	p.Ala171Val	rs773624887	missense variant	-	NC_000011.10:g.2133018G>A	ExAC,gnomAD
IGF2	P01344	p.Pro172Ser	rs1322797114	missense variant	-	NC_000011.10:g.2133016G>A	gnomAD
IGF2	P01344	p.Pro173Leu	rs1050342	missense variant	-	NC_000011.10:g.2133012G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Ser	rs11545014	missense variant	-	NC_000011.10:g.2133013G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Ala	rs11545014	missense variant	-	NC_000011.10:g.2133013G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Arg	rs1050342	missense variant	-	NC_000011.10:g.2133012G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Gln	rs1050342	missense variant	-	NC_000011.10:g.2133012G>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu174Asp	rs749836523	missense variant	-	NC_000011.10:g.2133008C>G	ExAC,gnomAD
IGF2	P01344	p.Glu174Ter	RCV000520721	frameshift	-	NC_000011.10:g.2133018dup	ClinVar
IGF2	P01344	p.Ala176Thr	rs1363016357	missense variant	-	NC_000011.10:g.2133004C>T	gnomAD
IGF2	P01344	p.Ser177Arg	rs1160380880	missense variant	-	NC_000011.10:g.2132999G>T	TOPMed,gnomAD
IGF2	P01344	p.Asn178Ser	rs1421347729	missense variant	-	NC_000011.10:g.2132997T>C	gnomAD
IGF2	P01344	p.Arg179Gln	rs565575035	missense variant	-	NC_000011.10:g.2132994C>T	ExAC,gnomAD
IGF2	P01344	p.Arg179Trp	rs1014211286	missense variant	-	NC_000011.10:g.2132995G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg179Gly	rs1014211286	missense variant	-	NC_000011.10:g.2132995G>C	TOPMed,gnomAD
IGF2	P01344	p.Lys180Asn	rs12993	missense variant	-	NC_000011.10:g.2132990C>A	-
IGF2	P01344	p.Lys180Asn	rs12993	missense variant	-	NC_000011.10:g.2132990C>A	UniProt,dbSNP
IGF2	P01344	p.Lys180Asn	VAR_011961	missense variant	-	NC_000011.10:g.2132990C>A	UniProt
IGF2	P01344	p.Gly2Val	rs781634507	missense variant	-	NC_000011.10:g.2135519C>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly2Glu	rs781634507	missense variant	-	NC_000011.10:g.2135519C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ile3Phe	rs1340808708	missense variant	-	NC_000011.10:g.2135517T>A	gnomAD
IGF2	P01344	p.Pro4Ala	rs1333440627	missense variant	-	NC_000011.10:g.2135514G>C	gnomAD
IGF2	P01344	p.Met5Val	rs1172508915	missense variant	-	NC_000011.10:g.2135511T>C	TOPMed
IGF2	P01344	p.Met5Arg	rs757907236	missense variant	-	NC_000011.10:g.2135510A>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly6Val	rs752191866	missense variant	-	NC_000011.10:g.2135507C>A	ExAC,gnomAD
IGF2	P01344	p.Lys7Asn	rs146334276	missense variant	-	NC_000011.10:g.2135503C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Lys7Thr	rs764865819	missense variant	-	NC_000011.10:g.2135504T>G	ExAC,gnomAD
IGF2	P01344	p.Ser8Ter	rs869320620	stop gained	-	NC_000011.10:g.2135501G>T	TOPMed,gnomAD
IGF2	P01344	p.Ser8Ter	RCV000186560	nonsense	Growth restriction, severe, with distinctive facies (GRDF)	NC_000011.10:g.2135501G>T	ClinVar
IGF2	P01344	p.Ser8Leu	rs869320620	missense variant	-	NC_000011.10:g.2135501G>A	TOPMed,gnomAD
IGF2	P01344	p.Met9Leu	rs1294135404	missense variant	-	NC_000011.10:g.2135499T>G	TOPMed
IGF2	P01344	p.Leu10Pro	rs984257990	missense variant	-	NC_000011.10:g.2135495A>G	TOPMed,gnomAD
IGF2	P01344	p.Leu10Val	rs1361412373	missense variant	-	NC_000011.10:g.2135496G>C	TOPMed
IGF2	P01344	p.Phe15Leu	rs767507381	missense variant	-	NC_000011.10:g.2135481A>G	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Leu16Trp	rs1240151267	missense variant	-	NC_000011.10:g.2135477A>C	gnomAD
IGF2	P01344	p.Ser20Leu	rs142012621	missense variant	-	NC_000011.10:g.2135465G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ser20Trp	rs142012621	missense variant	-	NC_000011.10:g.2135465G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Tyr26Ter	RCV000491853	nonsense	Russell-Silver syndrome (SRS)	NC_000011.10:g.2135446G>C	ClinVar
IGF2	P01344	p.Tyr26Ter	RCV000479354	nonsense	-	NC_000011.10:g.2135446G>C	ClinVar
IGF2	P01344	p.Tyr26Ter	rs1064794050	stop gained	-	NC_000011.10:g.2135446G>C	TOPMed
IGF2	P01344	p.Tyr26Phe	rs1256437532	missense variant	-	NC_000011.10:g.2135447T>A	gnomAD
IGF2	P01344	p.Arg27His	rs1356855570	missense variant	-	NC_000011.10:g.2135444C>T	TOPMed,gnomAD
IGF2	P01344	p.Arg27Leu	rs1356855570	missense variant	-	NC_000011.10:g.2135444C>A	TOPMed,gnomAD
IGF2	P01344	p.Arg27Cys	rs1230176657	missense variant	-	NC_000011.10:g.2135445G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg27Ser	rs1230176657	missense variant	-	NC_000011.10:g.2135445G>T	TOPMed,gnomAD
IGF2	P01344	p.Cys33Ter	RCV000412860	nonsense	-	NC_000011.10:g.2135425G>T	ClinVar
IGF2	P01344	p.Cys33Arg	rs1057518115	missense variant	-	NC_000011.10:g.2135427A>G	-
IGF2	P01344	p.Cys33Arg	RCV000414320	missense variant	-	NC_000011.10:g.2135427A>G	ClinVar
IGF2	P01344	p.Cys33Ter	rs553443857	stop gained	-	NC_000011.10:g.2135425G>T	ExAC,gnomAD
IGF2	P01344	p.Val44Ile	rs747135996	missense variant	-	NC_000011.10:g.2135394C>T	ExAC,gnomAD
IGF2	P01344	p.Arg48His	rs778465733	missense variant	-	NC_000011.10:g.2135381C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg48Leu	rs778465733	missense variant	-	NC_000011.10:g.2135381C>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg48Cys	rs1018841144	missense variant	-	NC_000011.10:g.2135382G>A	TOPMed,gnomAD
IGF2	P01344	p.Ala56Val	rs1268424766	missense variant	-	NC_000011.10:g.2133656G>A	TOPMed
IGF2	P01344	p.Ala56Thr	rs1212009594	missense variant	-	NC_000011.10:g.2133657C>T	TOPMed
IGF2	P01344	p.Ser57Asn	rs1315236317	missense variant	-	NC_000011.10:g.2133653C>T	gnomAD
IGF2	P01344	p.Arg58His	rs761163170	missense variant	-	NC_000011.10:g.2133650C>T	ExAC,gnomAD
IGF2	P01344	p.Arg61His	rs773449505	missense variant	-	NC_000011.10:g.2133641C>T	ExAC,gnomAD
IGF2	P01344	p.Arg62Leu	rs768105151	missense variant	-	NC_000011.10:g.2133638C>A	ExAC,gnomAD
IGF2	P01344	p.Arg62His	rs768105151	missense variant	-	NC_000011.10:g.2133638C>T	ExAC,gnomAD
IGF2	P01344	p.Arg64His	rs369844466	missense variant	-	NC_000011.10:g.2133632C>T	ESP,TOPMed,gnomAD
IGF2	P01344	p.Arg64Cys	rs762200142	missense variant	-	NC_000011.10:g.2133633G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly65Asp	rs150610908	missense variant	-	NC_000011.10:g.2133629C>T	ESP
IGF2	P01344	p.Glu69Gln	rs1472622300	missense variant	-	NC_000011.10:g.2133618C>G	TOPMed
IGF2	P01344	p.Cys71Arg	RCV000731499	missense variant	-	NC_000011.10:g.2133612A>G	ClinVar
IGF2	P01344	p.Arg73Cys	rs1383314827	missense variant	-	NC_000011.10:g.2133606G>A	gnomAD
IGF2	P01344	p.Arg73His	rs745308728	missense variant	-	NC_000011.10:g.2133605C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Thr82Met	rs746888392	missense variant	-	NC_000011.10:g.2133578G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Thr86Ile	rs748117121	missense variant	-	NC_000011.10:g.2133566G>A	ExAC,gnomAD
IGF2	P01344	p.Thr86Pro	rs758164144	missense variant	-	NC_000011.10:g.2133567T>G	ExAC,gnomAD
IGF2	P01344	p.Pro87Ala	rs755066389	missense variant	-	NC_000011.10:g.2133564G>C	ExAC,gnomAD
IGF2	P01344	p.Pro87Thr	rs755066389	missense variant	-	NC_000011.10:g.2133564G>T	ExAC,gnomAD
IGF2	P01344	p.Pro87His	rs1290256492	missense variant	-	NC_000011.10:g.2133563G>T	gnomAD
IGF2	P01344	p.Ala88Thr	rs753904854	missense variant	-	NC_000011.10:g.2133561C>T	ExAC,gnomAD
IGF2	P01344	p.Ala88Pro	rs753904854	missense variant	-	NC_000011.10:g.2133561C>G	ExAC,gnomAD
IGF2	P01344	p.Asp93Asn	rs750845881	missense variant	-	NC_000011.10:g.2133546C>T	ExAC,gnomAD
IGF2	P01344	p.Ser95Leu	rs1457247306	missense variant	-	NC_000011.10:g.2133539G>A	TOPMed,gnomAD
IGF2	P01344	p.Pro97Leu	rs775000758	missense variant	-	NC_000011.10:g.2133533G>A	ExAC,gnomAD
IGF2	P01344	p.Pro98Leu	rs143785521	missense variant	-	NC_000011.10:g.2133530G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro98Gln	rs143785521	missense variant	-	NC_000011.10:g.2133530G>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro102Leu	rs369122420	missense variant	-	NC_000011.10:g.2133518G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg107Ile	rs771744589	missense variant	-	NC_000011.10:g.2133210C>A	ExAC,gnomAD
IGF2	P01344	p.Pro109Thr	rs774104462	missense variant	-	NC_000011.10:g.2133205G>T	ExAC,gnomAD
IGF2	P01344	p.Val110Met	rs376878619	missense variant	-	NC_000011.10:g.2133202C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val110Ala	rs769766130	missense variant	-	NC_000011.10:g.2133201A>G	ExAC,gnomAD
IGF2	P01344	p.Val110Leu	rs376878619	missense variant	-	NC_000011.10:g.2133202C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly111Val	rs745901132	missense variant	-	NC_000011.10:g.2133198C>A	ExAC,gnomAD
IGF2	P01344	p.Phe114Ser	rs1301744036	missense variant	-	NC_000011.10:g.2133189A>G	gnomAD
IGF2	P01344	p.Lys120Asn	rs14367	missense variant	-	NC_000011.10:g.2133170C>A	-
IGF2	P01344	p.Lys120Asn	rs14367	missense variant	-	NC_000011.10:g.2133170C>A	UniProt,dbSNP
IGF2	P01344	p.Lys120Asn	VAR_011959	missense variant	-	NC_000011.10:g.2133170C>A	UniProt
IGF2	P01344	p.Arg125Cys	rs781325329	missense variant	-	NC_000011.10:g.2133157G>A	ExAC,gnomAD
IGF2	P01344	p.Arg125His	rs757547834	missense variant	-	NC_000011.10:g.2133156C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg127Leu	rs1191719522	missense variant	-	NC_000011.10:g.2133150C>A	TOPMed,gnomAD
IGF2	P01344	p.Arg127Cys	rs1372848092	missense variant	-	NC_000011.10:g.2133151G>A	gnomAD
IGF2	P01344	p.Arg127His	rs1191719522	missense variant	-	NC_000011.10:g.2133150C>T	TOPMed,gnomAD
IGF2	P01344	p.Pro131Leu	rs1257021707	missense variant	-	NC_000011.10:g.2133138G>A	gnomAD
IGF2	P01344	p.Leu133Phe	rs530101369	missense variant	-	NC_000011.10:g.2133133G>A	1000Genomes,gnomAD
IGF2	P01344	p.Leu133Val	rs530101369	missense variant	-	NC_000011.10:g.2133133G>C	1000Genomes,gnomAD
IGF2	P01344	p.Arg135Cys	rs1459983752	missense variant	-	NC_000011.10:g.2133127G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg135His	rs1260271030	missense variant	-	NC_000011.10:g.2133126C>T	gnomAD
IGF2	P01344	p.Ala136Gly	rs778304668	missense variant	-	NC_000011.10:g.2133123G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg137His	rs1268163024	missense variant	-	NC_000011.10:g.2133120C>T	gnomAD
IGF2	P01344	p.Arg137Gly	rs1338558695	missense variant	-	NC_000011.10:g.2133121G>C	TOPMed,gnomAD
IGF2	P01344	p.Arg137Cys	rs1338558695	missense variant	-	NC_000011.10:g.2133121G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg138Gly	rs371682005	missense variant	-	NC_000011.10:g.2133118G>C	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg138Trp	rs371682005	missense variant	-	NC_000011.10:g.2133118G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg138Gln	rs1413387573	missense variant	-	NC_000011.10:g.2133117C>T	TOPMed
IGF2	P01344	p.Gly139Val	rs369452652	missense variant	-	NC_000011.10:g.2133114C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly139Asp	rs369452652	missense variant	-	NC_000011.10:g.2133114C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val141Met	rs375129654	missense variant	-	NC_000011.10:g.2133109C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val141Leu	rs375129654	missense variant	-	NC_000011.10:g.2133109C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Leu142Phe	rs1006709496	missense variant	-	NC_000011.10:g.2133106G>A	TOPMed
IGF2	P01344	p.Ala143Thr	rs200836416	missense variant	-	NC_000011.10:g.2133103C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala143Ser	rs200836416	missense variant	-	NC_000011.10:g.2133103C>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Lys144Gln	rs761436263	missense variant	-	NC_000011.10:g.2133100T>G	ExAC,gnomAD
IGF2	P01344	p.Leu146Pro	rs1396314297	missense variant	-	NC_000011.10:g.2133093A>G	gnomAD
IGF2	P01344	p.Glu147Lys	rs150866176	missense variant	-	NC_000011.10:g.2133091C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Gln	rs150866176	missense variant	-	NC_000011.10:g.2133091C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Asp	rs139194127	missense variant	-	NC_000011.10:g.2133089C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Val	rs1291850589	missense variant	-	NC_000011.10:g.2133090T>A	TOPMed
IGF2	P01344	p.Ala148Glu	rs368814253	missense variant	-	NC_000011.10:g.2133087G>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala148Val	rs368814253	missense variant	-	NC_000011.10:g.2133087G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu151Lys	rs747266091	missense variant	-	NC_000011.10:g.2133079C>T	ExAC,gnomAD
IGF2	P01344	p.Ala152Pro	rs778075715	missense variant	-	NC_000011.10:g.2133076C>G	ExAC,gnomAD
IGF2	P01344	p.Arg154His	rs146962483	missense variant	-	NC_000011.10:g.2133069C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg154Pro	rs146962483	missense variant	-	NC_000011.10:g.2133069C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg154Cys	rs758849172	missense variant	-	NC_000011.10:g.2133070G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg156His	rs61732764	missense variant	-	NC_000011.10:g.2133063C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg156Cys	rs1243657106	missense variant	-	NC_000011.10:g.2133064G>A	TOPMed,gnomAD
IGF2	P01344	p.Pro157Ser	rs755482890	missense variant	-	NC_000011.10:g.2133061G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Thr	rs755482890	missense variant	-	NC_000011.10:g.2133061G>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Ala	rs755482890	missense variant	-	NC_000011.10:g.2133061G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Ter	RCV000598672	nonsense	-	NC_000011.10:g.2133061del	ClinVar
IGF2	P01344	p.Ile159Leu	rs1407468267	missense variant	-	NC_000011.10:g.2133055T>G	gnomAD
IGF2	P01344	p.Ala160Val	rs1032405005	missense variant	-	NC_000011.10:g.2133051G>A	gnomAD
IGF2	P01344	p.Leu161Pro	rs1226943034	missense variant	-	NC_000011.10:g.2133048A>G	gnomAD
IGF2	P01344	p.Asp165Glu	rs763681027	missense variant	-	NC_000011.10:g.2133035G>C	ExAC,gnomAD
IGF2	P01344	p.Asp165Gly	rs1469636028	missense variant	-	NC_000011.10:g.2133036T>C	gnomAD
IGF2	P01344	p.Ala167Ser	rs377316111	missense variant	-	NC_000011.10:g.2133031C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala167Thr	rs377316111	missense variant	-	NC_000011.10:g.2133031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly169Trp	rs554804044	missense variant	-	NC_000011.10:g.2133025C>A	1000Genomes,ExAC,gnomAD
IGF2	P01344	p.Gly169Arg	rs554804044	missense variant	-	NC_000011.10:g.2133025C>T	1000Genomes,ExAC,gnomAD
IGF2	P01344	p.Gly170Ser	rs771138084	missense variant	-	NC_000011.10:g.2133022C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly170Asp	rs747026832	missense variant	-	NC_000011.10:g.2133021C>T	ExAC,gnomAD
IGF2	P01344	p.Ala171Thr	rs1347870712	missense variant	-	NC_000011.10:g.2133019C>T	gnomAD
IGF2	P01344	p.Ala171Val	rs773624887	missense variant	-	NC_000011.10:g.2133018G>A	ExAC,gnomAD
IGF2	P01344	p.Pro172Ser	rs1322797114	missense variant	-	NC_000011.10:g.2133016G>A	gnomAD
IGF2	P01344	p.Pro173Leu	rs1050342	missense variant	-	NC_000011.10:g.2133012G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Ser	rs11545014	missense variant	-	NC_000011.10:g.2133013G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Ala	rs11545014	missense variant	-	NC_000011.10:g.2133013G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Arg	rs1050342	missense variant	-	NC_000011.10:g.2133012G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Gln	rs1050342	missense variant	-	NC_000011.10:g.2133012G>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu174Ter	RCV000520721	frameshift	-	NC_000011.10:g.2133018dup	ClinVar
IGF2	P01344	p.Glu174Asp	rs749836523	missense variant	-	NC_000011.10:g.2133008C>G	ExAC,gnomAD
IGF2	P01344	p.Ala176Thr	rs1363016357	missense variant	-	NC_000011.10:g.2133004C>T	gnomAD
IGF2	P01344	p.Ser177Arg	rs1160380880	missense variant	-	NC_000011.10:g.2132999G>T	TOPMed,gnomAD
IGF2	P01344	p.Asn178Ser	rs1421347729	missense variant	-	NC_000011.10:g.2132997T>C	gnomAD
IGF2	P01344	p.Arg179Trp	rs1014211286	missense variant	-	NC_000011.10:g.2132995G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg179Gln	rs565575035	missense variant	-	NC_000011.10:g.2132994C>T	ExAC,gnomAD
IGF2	P01344	p.Arg179Gly	rs1014211286	missense variant	-	NC_000011.10:g.2132995G>C	TOPMed,gnomAD
IGF2	P01344	p.Lys180Asn	rs12993	missense variant	-	NC_000011.10:g.2132990C>A	-
IGF2	P01344	p.Lys180Asn	rs12993	missense variant	-	NC_000011.10:g.2132990C>A	UniProt,dbSNP
IGF2	P01344	p.Lys180Asn	VAR_011961	missense variant	-	NC_000011.10:g.2132990C>A	UniProt
IGF2	P01344	p.Gly2Val	rs781634507	missense variant	-	NC_000011.10:g.2135519C>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly2Glu	rs781634507	missense variant	-	NC_000011.10:g.2135519C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ile3Phe	rs1340808708	missense variant	-	NC_000011.10:g.2135517T>A	gnomAD
IGF2	P01344	p.Pro4Ala	rs1333440627	missense variant	-	NC_000011.10:g.2135514G>C	gnomAD
IGF2	P01344	p.Met5Arg	rs757907236	missense variant	-	NC_000011.10:g.2135510A>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Met5Val	rs1172508915	missense variant	-	NC_000011.10:g.2135511T>C	TOPMed
IGF2	P01344	p.Gly6Val	rs752191866	missense variant	-	NC_000011.10:g.2135507C>A	ExAC,gnomAD
IGF2	P01344	p.Lys7Asn	rs146334276	missense variant	-	NC_000011.10:g.2135503C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Lys7Thr	rs764865819	missense variant	-	NC_000011.10:g.2135504T>G	ExAC,gnomAD
IGF2	P01344	p.Ser8Ter	rs869320620	stop gained	-	NC_000011.10:g.2135501G>T	TOPMed,gnomAD
IGF2	P01344	p.Ser8Leu	rs869320620	missense variant	-	NC_000011.10:g.2135501G>A	TOPMed,gnomAD
IGF2	P01344	p.Ser8Ter	RCV000186560	nonsense	Growth restriction, severe, with distinctive facies (GRDF)	NC_000011.10:g.2135501G>T	ClinVar
IGF2	P01344	p.Met9Leu	rs1294135404	missense variant	-	NC_000011.10:g.2135499T>G	TOPMed
IGF2	P01344	p.Leu10Pro	rs984257990	missense variant	-	NC_000011.10:g.2135495A>G	TOPMed,gnomAD
IGF2	P01344	p.Leu10Val	rs1361412373	missense variant	-	NC_000011.10:g.2135496G>C	TOPMed
IGF2	P01344	p.Phe15Leu	rs767507381	missense variant	-	NC_000011.10:g.2135481A>G	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Leu16Trp	rs1240151267	missense variant	-	NC_000011.10:g.2135477A>C	gnomAD
IGF2	P01344	p.Ser20Leu	rs142012621	missense variant	-	NC_000011.10:g.2135465G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ser20Trp	rs142012621	missense variant	-	NC_000011.10:g.2135465G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Tyr26Ter	RCV000479354	nonsense	-	NC_000011.10:g.2135446G>C	ClinVar
IGF2	P01344	p.Tyr26Ter	RCV000491853	nonsense	Russell-Silver syndrome (SRS)	NC_000011.10:g.2135446G>C	ClinVar
IGF2	P01344	p.Tyr26Ter	rs1064794050	stop gained	-	NC_000011.10:g.2135446G>C	TOPMed
IGF2	P01344	p.Tyr26Phe	rs1256437532	missense variant	-	NC_000011.10:g.2135447T>A	gnomAD
IGF2	P01344	p.Arg27His	rs1356855570	missense variant	-	NC_000011.10:g.2135444C>T	TOPMed,gnomAD
IGF2	P01344	p.Arg27Cys	rs1230176657	missense variant	-	NC_000011.10:g.2135445G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg27Leu	rs1356855570	missense variant	-	NC_000011.10:g.2135444C>A	TOPMed,gnomAD
IGF2	P01344	p.Arg27Ser	rs1230176657	missense variant	-	NC_000011.10:g.2135445G>T	TOPMed,gnomAD
IGF2	P01344	p.Cys33Ter	RCV000412860	nonsense	-	NC_000011.10:g.2135425G>T	ClinVar
IGF2	P01344	p.Cys33Arg	RCV000414320	missense variant	-	NC_000011.10:g.2135427A>G	ClinVar
IGF2	P01344	p.Cys33Arg	rs1057518115	missense variant	-	NC_000011.10:g.2135427A>G	-
IGF2	P01344	p.Cys33Ter	rs553443857	stop gained	-	NC_000011.10:g.2135425G>T	ExAC,gnomAD
IGF2	P01344	p.Val44Ile	rs747135996	missense variant	-	NC_000011.10:g.2135394C>T	ExAC,gnomAD
IGF2	P01344	p.Arg48His	rs778465733	missense variant	-	NC_000011.10:g.2135381C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg48Leu	rs778465733	missense variant	-	NC_000011.10:g.2135381C>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg48Cys	rs1018841144	missense variant	-	NC_000011.10:g.2135382G>A	TOPMed,gnomAD
IGF2	P01344	p.Ala56Val	rs1268424766	missense variant	-	NC_000011.10:g.2133656G>A	TOPMed
IGF2	P01344	p.Ala56Thr	rs1212009594	missense variant	-	NC_000011.10:g.2133657C>T	TOPMed
IGF2	P01344	p.Ser57Asn	rs1315236317	missense variant	-	NC_000011.10:g.2133653C>T	gnomAD
IGF2	P01344	p.Arg58His	rs761163170	missense variant	-	NC_000011.10:g.2133650C>T	ExAC,gnomAD
IGF2	P01344	p.Arg61His	rs773449505	missense variant	-	NC_000011.10:g.2133641C>T	ExAC,gnomAD
IGF2	P01344	p.Arg62Leu	rs768105151	missense variant	-	NC_000011.10:g.2133638C>A	ExAC,gnomAD
IGF2	P01344	p.Arg62His	rs768105151	missense variant	-	NC_000011.10:g.2133638C>T	ExAC,gnomAD
IGF2	P01344	p.Arg64His	rs369844466	missense variant	-	NC_000011.10:g.2133632C>T	ESP,TOPMed,gnomAD
IGF2	P01344	p.Arg64Cys	rs762200142	missense variant	-	NC_000011.10:g.2133633G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly65Asp	rs150610908	missense variant	-	NC_000011.10:g.2133629C>T	ESP
IGF2	P01344	p.Glu69Gln	rs1472622300	missense variant	-	NC_000011.10:g.2133618C>G	TOPMed
IGF2	P01344	p.Cys71Arg	RCV000731499	missense variant	-	NC_000011.10:g.2133612A>G	ClinVar
IGF2	P01344	p.Arg73Cys	rs1383314827	missense variant	-	NC_000011.10:g.2133606G>A	gnomAD
IGF2	P01344	p.Arg73His	rs745308728	missense variant	-	NC_000011.10:g.2133605C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Thr82Met	rs746888392	missense variant	-	NC_000011.10:g.2133578G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Thr86Ile	rs748117121	missense variant	-	NC_000011.10:g.2133566G>A	ExAC,gnomAD
IGF2	P01344	p.Thr86Pro	rs758164144	missense variant	-	NC_000011.10:g.2133567T>G	ExAC,gnomAD
IGF2	P01344	p.Pro87Ala	rs755066389	missense variant	-	NC_000011.10:g.2133564G>C	ExAC,gnomAD
IGF2	P01344	p.Pro87Thr	rs755066389	missense variant	-	NC_000011.10:g.2133564G>T	ExAC,gnomAD
IGF2	P01344	p.Pro87His	rs1290256492	missense variant	-	NC_000011.10:g.2133563G>T	gnomAD
IGF2	P01344	p.Ala88Thr	rs753904854	missense variant	-	NC_000011.10:g.2133561C>T	ExAC,gnomAD
IGF2	P01344	p.Ala88Pro	rs753904854	missense variant	-	NC_000011.10:g.2133561C>G	ExAC,gnomAD
IGF2	P01344	p.Asp93Asn	rs750845881	missense variant	-	NC_000011.10:g.2133546C>T	ExAC,gnomAD
IGF2	P01344	p.Ser95Leu	rs1457247306	missense variant	-	NC_000011.10:g.2133539G>A	TOPMed,gnomAD
IGF2	P01344	p.Pro97Leu	rs775000758	missense variant	-	NC_000011.10:g.2133533G>A	ExAC,gnomAD
IGF2	P01344	p.Pro98Leu	rs143785521	missense variant	-	NC_000011.10:g.2133530G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro98Gln	rs143785521	missense variant	-	NC_000011.10:g.2133530G>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro102Leu	rs369122420	missense variant	-	NC_000011.10:g.2133518G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg107Ile	rs771744589	missense variant	-	NC_000011.10:g.2133210C>A	ExAC,gnomAD
IGF2	P01344	p.Pro109Thr	rs774104462	missense variant	-	NC_000011.10:g.2133205G>T	ExAC,gnomAD
IGF2	P01344	p.Val110Met	rs376878619	missense variant	-	NC_000011.10:g.2133202C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val110Ala	rs769766130	missense variant	-	NC_000011.10:g.2133201A>G	ExAC,gnomAD
IGF2	P01344	p.Val110Leu	rs376878619	missense variant	-	NC_000011.10:g.2133202C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly111Val	rs745901132	missense variant	-	NC_000011.10:g.2133198C>A	ExAC,gnomAD
IGF2	P01344	p.Phe114Ser	rs1301744036	missense variant	-	NC_000011.10:g.2133189A>G	gnomAD
IGF2	P01344	p.Lys120Asn	rs14367	missense variant	-	NC_000011.10:g.2133170C>A	UniProt,dbSNP
IGF2	P01344	p.Lys120Asn	VAR_011959	missense variant	-	NC_000011.10:g.2133170C>A	UniProt
IGF2	P01344	p.Lys120Asn	rs14367	missense variant	-	NC_000011.10:g.2133170C>A	-
IGF2	P01344	p.Arg125His	rs757547834	missense variant	-	NC_000011.10:g.2133156C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg125Cys	rs781325329	missense variant	-	NC_000011.10:g.2133157G>A	ExAC,gnomAD
IGF2	P01344	p.Arg127Leu	rs1191719522	missense variant	-	NC_000011.10:g.2133150C>A	TOPMed,gnomAD
IGF2	P01344	p.Arg127Cys	rs1372848092	missense variant	-	NC_000011.10:g.2133151G>A	gnomAD
IGF2	P01344	p.Arg127His	rs1191719522	missense variant	-	NC_000011.10:g.2133150C>T	TOPMed,gnomAD
IGF2	P01344	p.Pro131Leu	rs1257021707	missense variant	-	NC_000011.10:g.2133138G>A	gnomAD
IGF2	P01344	p.Leu133Phe	rs530101369	missense variant	-	NC_000011.10:g.2133133G>A	1000Genomes,gnomAD
IGF2	P01344	p.Leu133Val	rs530101369	missense variant	-	NC_000011.10:g.2133133G>C	1000Genomes,gnomAD
IGF2	P01344	p.Arg135Cys	rs1459983752	missense variant	-	NC_000011.10:g.2133127G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg135His	rs1260271030	missense variant	-	NC_000011.10:g.2133126C>T	gnomAD
IGF2	P01344	p.Ala136Gly	rs778304668	missense variant	-	NC_000011.10:g.2133123G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg137His	rs1268163024	missense variant	-	NC_000011.10:g.2133120C>T	gnomAD
IGF2	P01344	p.Arg137Gly	rs1338558695	missense variant	-	NC_000011.10:g.2133121G>C	TOPMed,gnomAD
IGF2	P01344	p.Arg137Cys	rs1338558695	missense variant	-	NC_000011.10:g.2133121G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg138Gly	rs371682005	missense variant	-	NC_000011.10:g.2133118G>C	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg138Gln	rs1413387573	missense variant	-	NC_000011.10:g.2133117C>T	TOPMed
IGF2	P01344	p.Arg138Trp	rs371682005	missense variant	-	NC_000011.10:g.2133118G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly139Val	rs369452652	missense variant	-	NC_000011.10:g.2133114C>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly139Asp	rs369452652	missense variant	-	NC_000011.10:g.2133114C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val141Leu	rs375129654	missense variant	-	NC_000011.10:g.2133109C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Val141Met	rs375129654	missense variant	-	NC_000011.10:g.2133109C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Leu142Phe	rs1006709496	missense variant	-	NC_000011.10:g.2133106G>A	TOPMed
IGF2	P01344	p.Ala143Thr	rs200836416	missense variant	-	NC_000011.10:g.2133103C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala143Ser	rs200836416	missense variant	-	NC_000011.10:g.2133103C>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Lys144Gln	rs761436263	missense variant	-	NC_000011.10:g.2133100T>G	ExAC,gnomAD
IGF2	P01344	p.Leu146Pro	rs1396314297	missense variant	-	NC_000011.10:g.2133093A>G	gnomAD
IGF2	P01344	p.Glu147Lys	rs150866176	missense variant	-	NC_000011.10:g.2133091C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Asp	rs139194127	missense variant	-	NC_000011.10:g.2133089C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Gln	rs150866176	missense variant	-	NC_000011.10:g.2133091C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu147Val	rs1291850589	missense variant	-	NC_000011.10:g.2133090T>A	TOPMed
IGF2	P01344	p.Ala148Glu	rs368814253	missense variant	-	NC_000011.10:g.2133087G>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala148Val	rs368814253	missense variant	-	NC_000011.10:g.2133087G>A	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu151Lys	rs747266091	missense variant	-	NC_000011.10:g.2133079C>T	ExAC,gnomAD
IGF2	P01344	p.Ala152Pro	rs778075715	missense variant	-	NC_000011.10:g.2133076C>G	ExAC,gnomAD
IGF2	P01344	p.Arg154His	rs146962483	missense variant	-	NC_000011.10:g.2133069C>T	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg154Pro	rs146962483	missense variant	-	NC_000011.10:g.2133069C>G	ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg154Cys	rs758849172	missense variant	-	NC_000011.10:g.2133070G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg156His	rs61732764	missense variant	-	NC_000011.10:g.2133063C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Arg156Cys	rs1243657106	missense variant	-	NC_000011.10:g.2133064G>A	TOPMed,gnomAD
IGF2	P01344	p.Pro157Ter	RCV000598672	nonsense	-	NC_000011.10:g.2133061del	ClinVar
IGF2	P01344	p.Pro157Ala	rs755482890	missense variant	-	NC_000011.10:g.2133061G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Ser	rs755482890	missense variant	-	NC_000011.10:g.2133061G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro157Thr	rs755482890	missense variant	-	NC_000011.10:g.2133061G>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ile159Leu	rs1407468267	missense variant	-	NC_000011.10:g.2133055T>G	gnomAD
IGF2	P01344	p.Ala160Val	rs1032405005	missense variant	-	NC_000011.10:g.2133051G>A	gnomAD
IGF2	P01344	p.Leu161Pro	rs1226943034	missense variant	-	NC_000011.10:g.2133048A>G	gnomAD
IGF2	P01344	p.Asp165Glu	rs763681027	missense variant	-	NC_000011.10:g.2133035G>C	ExAC,gnomAD
IGF2	P01344	p.Asp165Gly	rs1469636028	missense variant	-	NC_000011.10:g.2133036T>C	gnomAD
IGF2	P01344	p.Ala167Ser	rs377316111	missense variant	-	NC_000011.10:g.2133031C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Ala167Thr	rs377316111	missense variant	-	NC_000011.10:g.2133031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly169Trp	rs554804044	missense variant	-	NC_000011.10:g.2133025C>A	1000Genomes,ExAC,gnomAD
IGF2	P01344	p.Gly169Arg	rs554804044	missense variant	-	NC_000011.10:g.2133025C>T	1000Genomes,ExAC,gnomAD
IGF2	P01344	p.Gly170Ser	rs771138084	missense variant	-	NC_000011.10:g.2133022C>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Gly170Asp	rs747026832	missense variant	-	NC_000011.10:g.2133021C>T	ExAC,gnomAD
IGF2	P01344	p.Ala171Val	rs773624887	missense variant	-	NC_000011.10:g.2133018G>A	ExAC,gnomAD
IGF2	P01344	p.Ala171Thr	rs1347870712	missense variant	-	NC_000011.10:g.2133019C>T	gnomAD
IGF2	P01344	p.Pro172Ser	rs1322797114	missense variant	-	NC_000011.10:g.2133016G>A	gnomAD
IGF2	P01344	p.Pro173Leu	rs1050342	missense variant	-	NC_000011.10:g.2133012G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Ser	rs11545014	missense variant	-	NC_000011.10:g.2133013G>A	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Ala	rs11545014	missense variant	-	NC_000011.10:g.2133013G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Arg	rs1050342	missense variant	-	NC_000011.10:g.2133012G>C	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Pro173Gln	rs1050342	missense variant	-	NC_000011.10:g.2133012G>T	ExAC,TOPMed,gnomAD
IGF2	P01344	p.Glu174Asp	rs749836523	missense variant	-	NC_000011.10:g.2133008C>G	ExAC,gnomAD
IGF2	P01344	p.Glu174Ter	RCV000520721	frameshift	-	NC_000011.10:g.2133018dup	ClinVar
IGF2	P01344	p.Ala176Thr	rs1363016357	missense variant	-	NC_000011.10:g.2133004C>T	gnomAD
IGF2	P01344	p.Ser177Arg	rs1160380880	missense variant	-	NC_000011.10:g.2132999G>T	TOPMed,gnomAD
IGF2	P01344	p.Asn178Ser	rs1421347729	missense variant	-	NC_000011.10:g.2132997T>C	gnomAD
IGF2	P01344	p.Arg179Trp	rs1014211286	missense variant	-	NC_000011.10:g.2132995G>A	TOPMed,gnomAD
IGF2	P01344	p.Arg179Gln	rs565575035	missense variant	-	NC_000011.10:g.2132994C>T	ExAC,gnomAD
IGF2	P01344	p.Arg179Gly	rs1014211286	missense variant	-	NC_000011.10:g.2132995G>C	TOPMed,gnomAD
IGF2	P01344	p.Lys180Asn	rs12993	missense variant	-	NC_000011.10:g.2132990C>A	UniProt,dbSNP
IGF2	P01344	p.Lys180Asn	VAR_011961	missense variant	-	NC_000011.10:g.2132990C>A	UniProt
IGF2	P01344	p.Lys180Asn	rs12993	missense variant	-	NC_000011.10:g.2132990C>A	-
COL2A1	P02458	p.Arg3His	rs372229776	missense variant	-	NC_000012.12:g.48004314C>T	ESP,TOPMed,gnomAD
COL2A1	P02458	p.Arg3Leu	rs372229776	missense variant	-	NC_000012.12:g.48004314C>A	ESP,TOPMed,gnomAD
COL2A1	P02458	p.Arg3Gly	rs898585011	missense variant	-	NC_000012.12:g.48004315G>C	TOPMed,gnomAD
COL2A1	P02458	p.Arg3Cys	rs898585011	missense variant	-	NC_000012.12:g.48004315G>A	TOPMed,gnomAD
COL2A1	P02458	p.Arg3Ser	rs898585011	missense variant	-	NC_000012.12:g.48004315G>T	TOPMed,gnomAD
COL2A1	P02458	p.Leu4Pro	rs1335702587	missense variant	-	NC_000012.12:g.48004311A>G	TOPMed
COL2A1	P02458	p.Gly5Arg	rs1275888661	missense variant	-	NC_000012.12:g.48004309C>G	gnomAD
COL2A1	P02458	p.Gly5Ala	rs557340983	missense variant	-	NC_000012.12:g.48004308C>G	1000Genomes,TOPMed,gnomAD
COL2A1	P02458	p.Ala6Asp	rs369359592	missense variant	-	NC_000012.12:g.48004305G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala6Val	rs369359592	missense variant	-	NC_000012.12:g.48004305G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala6Thr	rs1283945940	missense variant	-	NC_000012.12:g.48004306C>T	gnomAD
COL2A1	P02458	p.Ala6Asp	RCV000606916	missense variant	-	NC_000012.12:g.48004305G>T	ClinVar
COL2A1	P02458	p.Pro7Ser	rs1340689824	missense variant	-	NC_000012.12:g.48004303G>A	gnomAD
COL2A1	P02458	p.Pro7Leu	rs1314340565	missense variant	-	NC_000012.12:g.48004302G>A	gnomAD
COL2A1	P02458	p.Gln8Lys	rs1369890473	missense variant	-	NC_000012.12:g.48004300G>T	gnomAD
COL2A1	P02458	p.Thr9Ter	rs1131691546	stop gained	-	NC_000012.12:g.48004296_48004297delinsTA	-
COL2A1	P02458	p.Thr9Arg	rs557946588	missense variant	-	NC_000012.12:g.48004296G>C	1000Genomes,TOPMed
COL2A1	P02458	p.Thr9Ser	rs3803183	missense variant	-	NC_000012.12:g.48004297T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr9Ter	RCV000493711	nonsense	-	NC_000012.12:g.48004296_48004297delinsTA	ClinVar
COL2A1	P02458	p.Thr9Ser	RCV000342882	missense variant	Type II Collagenopathies	NC_000012.12:g.48004297T>A	ClinVar
COL2A1	P02458	p.Thr9Ser	RCV000406531	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.48004297T>A	ClinVar
COL2A1	P02458	p.Leu10Gln	rs1363528151	missense variant	-	NC_000012.12:g.48004293A>T	gnomAD
COL2A1	P02458	p.Leu13Arg	rs1162410146	missense variant	-	NC_000012.12:g.48004284A>C	gnomAD
COL2A1	P02458	p.Leu13Pro	rs1162410146	missense variant	-	NC_000012.12:g.48004284A>G	gnomAD
COL2A1	P02458	p.Val17Ile	rs1370410549	missense variant	-	NC_000012.12:g.48004273C>T	gnomAD
COL2A1	P02458	p.Val17Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.48004272A>G	NCI-TCGA
COL2A1	P02458	p.Gln24Arg	rs1472271077	missense variant	-	NC_000012.12:g.48004251T>C	gnomAD
COL2A1	P02458	p.Gln29Pro	rs1190060899	missense variant	-	NC_000012.12:g.48000125T>G	gnomAD
COL2A1	P02458	p.Gly32Ser	rs779475416	missense variant	-	NC_000012.12:g.48000117C>T	ExAC,gnomAD
COL2A1	P02458	p.Gly38Arg	rs765855138	missense variant	-	NC_000012.12:g.48000099C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly38Ala	rs1010211097	missense variant	-	NC_000012.12:g.48000098C>G	TOPMed
COL2A1	P02458	p.Gly38Val	COSM1361854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.48000098C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Tyr41Ser	rs1299510101	missense variant	-	NC_000012.12:g.48000089T>G	gnomAD
COL2A1	P02458	p.Asp43Asn	COSM1322486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.48000084C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Asp45Glu	rs375778172	missense variant	-	NC_000012.12:g.48000076A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp45Tyr	rs202145830	missense variant	-	NC_000012.12:g.48000078C>A	gnomAD
COL2A1	P02458	p.Trp47Ter	rs121912896	stop gained	-	NC_000012.12:g.48000070C>T	-
COL2A1	P02458	p.Trp47Arg	rs1064793352	missense variant	-	NC_000012.12:g.48000072A>G	-
COL2A1	P02458	p.Trp47Ter	COSM3461292	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.48000071C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Trp47Arg	RCV000483696	missense variant	-	NC_000012.12:g.48000072A>G	ClinVar
COL2A1	P02458	p.Trp47Ter	RCV000018944	nonsense	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.48000070C>T	ClinVar
COL2A1	P02458	p.Trp47Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.48000070C>A	NCI-TCGA
COL2A1	P02458	p.Pro49Leu	rs774081386	missense variant	-	NC_000012.12:g.48000065G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro51Ser	rs945234297	missense variant	-	NC_000012.12:g.48000060G>A	TOPMed,gnomAD
COL2A1	P02458	p.Cys52Ter	rs1246771678	stop gained	-	NC_000012.12:g.48000055G>T	TOPMed
COL2A1	P02458	p.Cys52Ter	RCV000659383	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.48000055G>T	ClinVar
COL2A1	P02458	p.Arg53Trp	rs776744207	missense variant	-	NC_000012.12:g.48000054G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg53Gln	rs370821294	missense variant	-	NC_000012.12:g.48000053C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg53Gly	rs776744207	missense variant	-	NC_000012.12:g.48000054G>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Cys57Tyr	rs121912898	missense variant	Stickler syndrome 1 non-syndromic ocular (STL1O)	NC_000012.12:g.48000041C>T	UniProt,dbSNP
COL2A1	P02458	p.Cys57Tyr	VAR_063891	missense variant	Stickler syndrome 1 non-syndromic ocular (STL1O)	NC_000012.12:g.48000041C>T	UniProt
COL2A1	P02458	p.Cys57Tyr	rs121912898	missense variant	-	NC_000012.12:g.48000041C>T	-
COL2A1	P02458	p.Cys57Tyr	RCV000018946	missense variant	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.48000041C>T	ClinVar
COL2A1	P02458	p.Asp58Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.48000039C>T	NCI-TCGA
COL2A1	P02458	p.Thr59Ala	rs376641474	missense variant	-	NC_000012.12:g.48000036T>C	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly60Arg	rs773434184	missense variant	-	NC_000012.12:g.48000033C>T	ExAC,gnomAD
COL2A1	P02458	p.Val62Leu	rs748537902	missense variant	-	NC_000012.12:g.48000027C>G	ExAC
COL2A1	P02458	p.Cys64Ter	rs121912897	stop gained	-	NC_000012.12:g.48000019G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Cys64Ter	RCV000657640	nonsense	-	NC_000012.12:g.48000019G>T	ClinVar
COL2A1	P02458	p.Cys64Ter	RCV000018945	nonsense	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.48000019G>T	ClinVar
COL2A1	P02458	p.Asp65Asn	COSM1361853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.48000018C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Asp66Asn	rs976006680	missense variant	-	NC_000012.12:g.48000015C>T	TOPMed,gnomAD
COL2A1	P02458	p.Asp66Tyr	rs976006680	missense variant	-	NC_000012.12:g.48000015C>A	TOPMed,gnomAD
COL2A1	P02458	p.Cys69Arg	rs749799023	missense variant	-	NC_000012.12:g.48000006A>G	ExAC,gnomAD
COL2A1	P02458	p.Asp71Asn	rs943372344	missense variant	-	NC_000012.12:g.48000000C>T	TOPMed
COL2A1	P02458	p.Asp71Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.48000000C>A	NCI-TCGA
COL2A1	P02458	p.Val72Leu	rs755705390	missense variant	-	NC_000012.12:g.47999997C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Val72Met	rs755705390	missense variant	-	NC_000012.12:g.47999997C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp74Gly	rs750031645	missense variant	-	NC_000012.12:g.47999990T>C	ExAC,gnomAD
COL2A1	P02458	p.Cys75Ser	rs767276172	missense variant	-	NC_000012.12:g.47999988A>T	ExAC,gnomAD
COL2A1	P02458	p.Pro78Leu	rs952199404	missense variant	-	NC_000012.12:g.47999978G>A	TOPMed
COL2A1	P02458	p.Glu79Asp	rs757029242	missense variant	-	NC_000012.12:g.47999974C>G	ExAC,gnomAD
COL2A1	P02458	p.Pro81Leu	COSM144074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47999969G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro81Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47999969G>C	NCI-TCGA
COL2A1	P02458	p.Pro81Ser	rs1292156036	missense variant	-	NC_000012.12:g.47999970G>A	gnomAD
COL2A1	P02458	p.Gly83Arg	rs762911032	missense variant	-	NC_000012.12:g.47999964C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Cys86Ter	rs794727261	stop gained	-	NC_000012.12:g.47999953G>T	-
COL2A1	P02458	p.Cys86Ter	RCV000255165	nonsense	-	NC_000012.12:g.47999953G>T	ClinVar
COL2A1	P02458	p.Cys86Ter	RCV000762897	nonsense	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47999953G>T	ClinVar
COL2A1	P02458	p.Ile88Phe	rs760745824	missense variant	-	NC_000012.12:g.47999949T>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ile88Val	rs760745824	missense variant	-	NC_000012.12:g.47999949T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Cys89Ter	COSM4831419	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47999944G>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Cys89Phe	COSM693802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47999945C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro90Leu	rs773342588	missense variant	-	NC_000012.12:g.47999942G>A	ExAC,gnomAD
COL2A1	P02458	p.Thr91Ala	rs1252498034	missense variant	-	NC_000012.12:g.47999940T>C	gnomAD
COL2A1	P02458	p.Leu93Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47999934G>A	NCI-TCGA
COL2A1	P02458	p.Ala94Val	rs1224104246	missense variant	-	NC_000012.12:g.47999930G>A	TOPMed,gnomAD
COL2A1	P02458	p.Ala94Thr	rs768931460	missense variant	-	NC_000012.12:g.47999931C>T	ExAC,gnomAD
COL2A1	P02458	p.Ala96Thr	COSM270912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47999925C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gln99Ter	RCV000358878	frameshift	-	NC_000012.12:g.47998428del	ClinVar
COL2A1	P02458	p.Pro100Arg	rs763903953	missense variant	-	NC_000012.12:g.47998425G>C	ExAC,gnomAD
COL2A1	P02458	p.Pro100Leu	rs763903953	missense variant	-	NC_000012.12:g.47998425G>A	ExAC,gnomAD
COL2A1	P02458	p.Gly101Val	rs557218250	missense variant	-	NC_000012.12:g.47998422C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly101Arg	rs1217575381	missense variant	-	NC_000012.12:g.47998423C>T	TOPMed
COL2A1	P02458	p.Gly104Glu	rs1015202999	missense variant	-	NC_000012.12:g.47998200C>T	TOPMed
COL2A1	P02458	p.Gly104Arg	rs764210489	missense variant	-	NC_000012.12:g.47998201C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly104Arg	RCV000485870	missense variant	-	NC_000012.12:g.47998201C>T	ClinVar
COL2A1	P02458	p.Gln105His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47998196C>A	NCI-TCGA
COL2A1	P02458	p.Lys106Glu	COSM3368831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47998195T>C	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro109Arg	rs140120720	missense variant	-	NC_000012.12:g.47998185G>C	ESP,ExAC,gnomAD
COL2A1	P02458	p.Pro109Ser	rs373195482	missense variant	-	NC_000012.12:g.47998186G>A	ESP,ExAC,gnomAD
COL2A1	P02458	p.Asp111Glu	rs760076089	missense variant	-	NC_000012.12:g.47998178G>T	ExAC,gnomAD
COL2A1	P02458	p.Asp111Tyr	rs1260264802	missense variant	-	NC_000012.12:g.47998180C>A	gnomAD
COL2A1	P02458	p.Ile112Val	rs777293765	missense variant	-	NC_000012.12:g.47998177T>C	ExAC,gnomAD
COL2A1	P02458	p.Ile112Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47998176A>G	NCI-TCGA
COL2A1	P02458	p.Asp114Gly	rs746493017	missense variant	-	NC_000012.12:g.47998170T>C	ExAC,gnomAD
COL2A1	P02458	p.Asp114Glu	rs1341039824	missense variant	-	NC_000012.12:g.47998169A>C	gnomAD
COL2A1	P02458	p.Ile115Val	rs1329462343	missense variant	-	NC_000012.12:g.47998064T>C	TOPMed
COL2A1	P02458	p.Val116Ala	rs779950053	missense variant	-	NC_000012.12:g.47998060A>G	ExAC,gnomAD
COL2A1	P02458	p.Gly117Ala	rs201192882	missense variant	-	NC_000012.12:g.47998057C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly117Arg	rs755974820	missense variant	-	NC_000012.12:g.47998058C>G	ExAC,gnomAD
COL2A1	P02458	p.Gly117Ala	RCV000522522	missense variant	-	NC_000012.12:g.47998057C>G	ClinVar
COL2A1	P02458	p.Gly117Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47998058C>T	NCI-TCGA
COL2A1	P02458	p.Pro118Leu	rs777669076	missense variant	-	NC_000012.12:g.47998054G>A	ExAC,gnomAD
COL2A1	P02458	p.Lys119Arg	rs758569692	missense variant	-	NC_000012.12:g.47998051T>C	ExAC,gnomAD
COL2A1	P02458	p.Pro121Leu	rs987213463	missense variant	-	NC_000012.12:g.47998045G>A	TOPMed
COL2A1	P02458	p.Pro124Arg	rs754127735	missense variant	-	NC_000012.12:g.47998036G>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro124Leu	rs754127735	missense variant	-	NC_000012.12:g.47998036G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gln125Arg	COSM4929539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47998033T>C	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly126Arg	rs1228023557	missense variant	-	NC_000012.12:g.47997924C>T	gnomAD
COL2A1	P02458	p.Ala128Val	rs766601966	missense variant	-	NC_000012.12:g.47997917G>A	ExAC,gnomAD
COL2A1	P02458	p.Glu130Gln	rs375448469	missense variant	-	NC_000012.12:g.47997912C>G	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gln131Pro	rs750828374	missense variant	-	NC_000012.12:g.47997908T>G	ExAC,gnomAD
COL2A1	P02458	p.Gly132Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47997906C>T	NCI-TCGA
COL2A1	P02458	p.Gly132Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.47997906C>A	NCI-TCGA
COL2A1	P02458	p.Pro133His	rs201234519	missense variant	-	NC_000012.12:g.47997902G>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro133Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47997902G>A	NCI-TCGA
COL2A1	P02458	p.Asp136Gly	rs1231923494	missense variant	-	NC_000012.12:g.47997893T>C	TOPMed
COL2A1	P02458	p.Asp136His	rs1313979826	missense variant	-	NC_000012.12:g.47997894C>G	gnomAD
COL2A1	P02458	p.Arg137Cys	rs762357071	missense variant	-	NC_000012.12:g.47997891G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg137His	rs201675352	missense variant	-	NC_000012.12:g.47997890C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp139Asn	rs1402865784	missense variant	-	NC_000012.12:g.47997885C>T	TOPMed,gnomAD
COL2A1	P02458	p.Glu142Asp	rs34392760	missense variant	-	NC_000012.12:g.47997874T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu142Asp	rs34392760	missense variant	-	NC_000012.12:g.47997874T>A	UniProt,dbSNP
COL2A1	P02458	p.Glu142Asp	VAR_033782	missense variant	-	NC_000012.12:g.47997874T>A	UniProt
COL2A1	P02458	p.Glu142Lys	COSM3461289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997876C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Glu142Asp	RCV000252660	missense variant	-	NC_000012.12:g.47997874T>A	ClinVar
COL2A1	P02458	p.Glu142Asp	RCV000755240	missense variant	-	NC_000012.12:g.47997874T>A	ClinVar
COL2A1	P02458	p.Ala145Val	rs757721177	missense variant	-	NC_000012.12:g.47997703G>A	ExAC,TOPMed
COL2A1	P02458	p.Pro146Ser	rs1181216326	missense variant	-	NC_000012.12:g.47997701G>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly147TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47997699_47997700insG	NCI-TCGA
COL2A1	P02458	p.Arg149Leu	rs763538232	missense variant	-	NC_000012.12:g.47997691C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg149His	rs763538232	missense variant	-	NC_000012.12:g.47997691C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg149Cys	rs144505311	missense variant	-	NC_000012.12:g.47997692G>A	ESP,TOPMed,gnomAD
COL2A1	P02458	p.Gly150Ser	rs762532133	missense variant	-	NC_000012.12:g.47997689C>T	ExAC,gnomAD
COL2A1	P02458	p.Arg151Gly	rs752217760	missense variant	-	NC_000012.12:g.47997686T>C	ExAC,gnomAD
COL2A1	P02458	p.Asp152Val	rs764933825	missense variant	-	NC_000012.12:g.47997682T>A	ExAC,gnomAD
COL2A1	P02458	p.Asp152Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47997682T>C	NCI-TCGA
COL2A1	P02458	p.Asp152His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47997683C>G	NCI-TCGA
COL2A1	P02458	p.Asp152GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47997678_47997681TCCA>-	NCI-TCGA
COL2A1	P02458	p.Glu154Gly	rs1327712915	missense variant	-	NC_000012.12:g.47997676T>C	TOPMed,gnomAD
COL2A1	P02458	p.Glu154Gln	COSM693803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997677C>G	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro155His	rs1049950456	missense variant	-	NC_000012.12:g.47997673G>T	gnomAD
COL2A1	P02458	p.Pro155Thr	rs759164471	missense variant	-	NC_000012.12:g.47997674G>T	ExAC,gnomAD
COL2A1	P02458	p.Thr157Ala	rs1376031009	missense variant	-	NC_000012.12:g.47997668T>C	gnomAD
COL2A1	P02458	p.Thr157Ile	rs770876325	missense variant	-	NC_000012.12:g.47997667G>A	ExAC,gnomAD
COL2A1	P02458	p.Thr157Asn	rs770876325	missense variant	-	NC_000012.12:g.47997667G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro158Leu	rs1050861	missense variant	-	NC_000012.12:g.47997664G>A	-
COL2A1	P02458	p.Gly159Val	COSM1361849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997661C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro161His	rs1457789719	missense variant	-	NC_000012.12:g.47997655G>T	TOPMed
COL2A1	P02458	p.Gly162Ala	rs1462514936	missense variant	-	NC_000012.12:g.47997652C>G	gnomAD
COL2A1	P02458	p.Gly162Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47997653C>T	NCI-TCGA
COL2A1	P02458	p.Pro164Arg	rs773293581	missense variant	-	NC_000012.12:g.47997646G>C	ExAC,gnomAD
COL2A1	P02458	p.Pro164His	rs773293581	missense variant	-	NC_000012.12:g.47997646G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro164Ser	rs947063848	missense variant	-	NC_000012.12:g.47997647G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro164LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47997646G>-	NCI-TCGA
COL2A1	P02458	p.Gly168Asp	rs1189243130	missense variant	-	NC_000012.12:g.47997634C>T	gnomAD
COL2A1	P02458	p.Pro169Leu	rs746108926	missense variant	-	NC_000012.12:g.47997631G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro169His	rs746108926	missense variant	-	NC_000012.12:g.47997631G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro169Thr	rs770027510	missense variant	-	NC_000012.12:g.47997632G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro169Ser	rs770027510	missense variant	-	NC_000012.12:g.47997632G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro170Leu	rs1253027973	missense variant	-	NC_000012.12:g.47997628G>A	TOPMed
COL2A1	P02458	p.Pro170Ala	rs200882049	missense variant	-	NC_000012.12:g.47997629G>C	ExAC,gnomAD
COL2A1	P02458	p.Pro170Ser	rs200882049	missense variant	-	NC_000012.12:g.47997629G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro170LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47997628G>-	NCI-TCGA
COL2A1	P02458	p.Pro170Ser	RCV000522118	missense variant	-	NC_000012.12:g.47997629G>A	ClinVar
COL2A1	P02458	p.Gly171Leu	rs1555169086	missense variant	-	NC_000012.12:g.47997625_47997626delinsAG	-
COL2A1	P02458	p.Gly171Arg	rs958614345	missense variant	-	NC_000012.12:g.47997626C>G	TOPMed,gnomAD
COL2A1	P02458	p.Gly171Val	rs928430270	missense variant	-	NC_000012.12:g.47997625C>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly171Leu	RCV000599279	missense variant	-	NC_000012.12:g.47997625_47997626delinsAG	ClinVar
COL2A1	P02458	p.Pro172Leu	COSM3461287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997622G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro173Arg	rs528081130	missense variant	-	NC_000012.12:g.47997619G>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro173Ser	COSM1705544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47997620G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly174Val	rs1456652132	missense variant	-	NC_000012.12:g.47997616C>A	TOPMed
COL2A1	P02458	p.Gly176Ser	rs201003836	missense variant	-	NC_000012.12:g.47997611C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly176Cys	rs201003836	missense variant	-	NC_000012.12:g.47997611C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly177Glu	rs764690054	missense variant	-	NC_000012.12:g.47997607C>T	ExAC,gnomAD
COL2A1	P02458	p.Asn178Lys	rs1379588096	missense variant	-	NC_000012.12:g.47996623G>C	TOPMed
COL2A1	P02458	p.Phe179Ser	rs750219742	missense variant	-	NC_000012.12:g.47996621A>G	ExAC,gnomAD
COL2A1	P02458	p.Gln182Ter	rs886041843	stop gained	-	NC_000012.12:g.47996613G>A	-
COL2A1	P02458	p.Gln182Ter	RCV000405387	nonsense	-	NC_000012.12:g.47996613G>A	ClinVar
COL2A1	P02458	p.Met183Ile	rs1375888658	missense variant	-	NC_000012.12:g.47996608C>T	gnomAD
COL2A1	P02458	p.Ala184Thr	rs201817670	missense variant	-	NC_000012.12:g.47996607C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala184Ser	rs201817670	missense variant	-	NC_000012.12:g.47996607C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala184Thr	RCV000659386	missense variant	Connective tissue disorder	NC_000012.12:g.47996607C>T	ClinVar
COL2A1	P02458	p.Gly186Arg	rs1377836159	missense variant	-	NC_000012.12:g.47996601C>T	gnomAD
COL2A1	P02458	p.Asp188His	COSM415836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47996595C>G	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly193Asp	rs764878166	missense variant	-	NC_000012.12:g.47996579C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala194Thr	rs371445823	missense variant	-	NC_000012.12:g.47996577C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gln195Leu	rs150749468	missense variant	-	NC_000012.12:g.47996573T>A	ESP
COL2A1	P02458	p.Gln195His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47996572C>G	NCI-TCGA
COL2A1	P02458	p.Gly201Glu	rs1203369669	missense variant	-	NC_000012.12:g.47996555C>T	gnomAD
COL2A1	P02458	p.Met203Thr	rs1250360919	missense variant	-	NC_000012.12:g.47996549A>G	gnomAD
COL2A1	P02458	p.Met206Thr	rs1270797857	missense variant	-	NC_000012.12:g.47995912A>G	gnomAD
COL2A1	P02458	p.Gly207Arg	rs869312907	missense variant	-	NC_000012.12:g.47995910C>T	-
COL2A1	P02458	p.Gly207Arg	RCV000210454	missense variant	Spondyloepiphyseal dysplasia, stanescu type (SEDSTN)	NC_000012.12:g.47995910C>T	ClinVar
COL2A1	P02458	p.Gly207Glu	COSM3871693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47995909C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro208Leu	rs1049536561	missense variant	-	NC_000012.12:g.47995906G>A	TOPMed
COL2A1	P02458	p.Arg209Ter	rs121912869	stop gained	-	NC_000012.12:g.47995904G>A	-
COL2A1	P02458	p.Arg209Ter	RCV000018904	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47995904G>A	ClinVar
COL2A1	P02458	p.Arg209Ter	RCV000579130	nonsense	-	NC_000012.12:g.47995904G>A	ClinVar
COL2A1	P02458	p.Pro211Ser	RCV000710793	missense variant	-	NC_000012.12:g.47995898G>A	ClinVar
COL2A1	P02458	p.Ala215Glu	rs766480693	missense variant	-	NC_000012.12:g.47995885G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala215Val	rs766480693	missense variant	-	NC_000012.12:g.47995885G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala215Thr	rs887129196	missense variant	-	NC_000012.12:g.47995886C>T	TOPMed
COL2A1	P02458	p.Gly216Asp	rs1064794264	missense variant	-	NC_000012.12:g.47995882C>T	-
COL2A1	P02458	p.Gly216Asp	RCV000484205	missense variant	-	NC_000012.12:g.47995882C>T	ClinVar
COL2A1	P02458	p.Ala217Ser	rs1232544067	missense variant	-	NC_000012.12:g.47995880C>A	TOPMed
COL2A1	P02458	p.Gly219Arg	rs1131691822	missense variant	-	NC_000012.12:g.47995763C>T	-
COL2A1	P02458	p.Gly219Arg	RCV000494511	missense variant	-	NC_000012.12:g.47995763C>T	ClinVar
COL2A1	P02458	p.Gln221Pro	rs368187891	missense variant	-	NC_000012.12:g.47995756T>G	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gln224Pro	rs949573200	missense variant	-	NC_000012.12:g.47995747T>G	TOPMed
COL2A1	P02458	p.Pro227Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47995739G>A	NCI-TCGA
COL2A1	P02458	p.Glu229Gly	rs1302899634	missense variant	-	NC_000012.12:g.47995732T>C	gnomAD
COL2A1	P02458	p.Glu229Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47995733C>T	NCI-TCGA
COL2A1	P02458	p.Gly234IleThrGlyGlu	NCI-TCGA novel	insertion	-	NC_000012.12:g.47995715_47995716insCTCACCCGTGAT	NCI-TCGA
COL2A1	P02458	p.Val235Ile	rs767618731	missense variant	-	NC_000012.12:g.47995715C>T	ExAC,gnomAD
COL2A1	P02458	p.Pro238Ala	rs763407810	missense variant	-	NC_000012.12:g.47995305G>C	ExAC,gnomAD
COL2A1	P02458	p.Met239Leu	rs1350339086	missense variant	-	NC_000012.12:g.47995302T>A	gnomAD
COL2A1	P02458	p.Met239Val	rs1350339086	missense variant	-	NC_000012.12:g.47995302T>C	gnomAD
COL2A1	P02458	p.Met239Ter	RCV000377412	frameshift	-	NC_000012.12:g.47995305dup	ClinVar
COL2A1	P02458	p.Gly240Asp	VAR_063892	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
COL2A1	P02458	p.Pro241Ser	rs1198767080	missense variant	-	NC_000012.12:g.47995296G>A	gnomAD
COL2A1	P02458	p.Arg242His	rs1023703904	missense variant	-	NC_000012.12:g.47995292C>T	TOPMed,gnomAD
COL2A1	P02458	p.Arg242Cys	rs1271100187	missense variant	-	NC_000012.12:g.47995293G>A	gnomAD
COL2A1	P02458	p.Arg242ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47995293G>-	NCI-TCGA
COL2A1	P02458	p.Arg242Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47995293G>T	NCI-TCGA
COL2A1	P02458	p.Pro245Thr	rs1333696091	missense variant	-	NC_000012.12:g.47995284G>T	TOPMed,gnomAD
COL2A1	P02458	p.Pro245Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47995284G>A	NCI-TCGA
COL2A1	P02458	p.Pro247Thr	rs377490073	missense variant	-	NC_000012.12:g.47995278G>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro247Ser	rs377490073	missense variant	-	NC_000012.12:g.47995278G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro247Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47995277G>A	NCI-TCGA
COL2A1	P02458	p.Pro247Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47995278G>C	NCI-TCGA
COL2A1	P02458	p.Pro248Arg	rs760132838	missense variant	-	NC_000012.12:g.47995274G>C	ExAC,gnomAD
COL2A1	P02458	p.Lys250Asn	rs1355313017	missense variant	-	NC_000012.12:g.47995267C>A	gnomAD
COL2A1	P02458	p.Lys250Met	rs775967429	missense variant	-	NC_000012.12:g.47995268T>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp254Tyr	rs1012776131	missense variant	-	NC_000012.12:g.47995257C>A	gnomAD
COL2A1	P02458	p.Asp254Glu	rs770501502	missense variant	-	NC_000012.12:g.47995255A>T	ExAC,gnomAD
COL2A1	P02458	p.Ala257Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47994471C>A	NCI-TCGA
COL2A1	P02458	p.Pro260Ser	rs1470645150	missense variant	-	NC_000012.12:g.47994462G>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly261Glu	COSM4967479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47994458C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Lys262Asn	rs1270453988	missense variant	-	NC_000012.12:g.47994454T>G	TOPMed
COL2A1	P02458	p.Lys262Arg	rs769679774	missense variant	-	NC_000012.12:g.47994455T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala263Asp	COSM3688212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47994452G>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Glu265Lys	COSM468406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47994447C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly267Asp	rs121912872	missense variant	Stickler syndrome 1 non-syndromic ocular (STL1O)	NC_000012.12:g.47994440C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly267Asp	VAR_001738	missense variant	Stickler syndrome 1 non-syndromic ocular (STL1O)	NC_000012.12:g.47994440C>T	UniProt
COL2A1	P02458	p.Gly267Asp	rs121912872	missense variant	-	NC_000012.12:g.47994440C>T	-
COL2A1	P02458	p.Gly267Asp	RCV000018908	missense variant	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.47994440C>T	ClinVar
COL2A1	P02458	p.Pro268Leu	rs142770543	missense variant	-	NC_000012.12:g.47994437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro268Leu	RCV000351659	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47994437G>A	ClinVar
COL2A1	P02458	p.Pro268Leu	RCV000481919	missense variant	-	NC_000012.12:g.47994437G>A	ClinVar
COL2A1	P02458	p.Pro268Leu	RCV000763850	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47994437G>A	ClinVar
COL2A1	P02458	p.Pro268Leu	RCV000296689	missense variant	Type II Collagenopathies	NC_000012.12:g.47994437G>A	ClinVar
COL2A1	P02458	p.Gly270Arg	VAR_063893	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
COL2A1	P02458	p.Pro271Leu	rs755370440	missense variant	-	NC_000012.12:g.47994428G>A	ExAC
COL2A1	P02458	p.Pro271Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47994429G>T	NCI-TCGA
COL2A1	P02458	p.Gly273Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47994047C>A	NCI-TCGA
COL2A1	P02458	p.Ala274Thr	rs1395857722	missense variant	-	NC_000012.12:g.47994044C>T	gnomAD
COL2A1	P02458	p.Arg275Cys	rs121912876	missense variant	-	NC_000012.12:g.47994041G>A	-
COL2A1	P02458	p.Arg275Cys	rs121912876	missense variant	Czech dysplasia (CZECHD)	NC_000012.12:g.47994041G>A	UniProt,dbSNP
COL2A1	P02458	p.Arg275Cys	VAR_001739	missense variant	Czech dysplasia (CZECHD)	NC_000012.12:g.47994041G>A	UniProt
COL2A1	P02458	p.Arg275His	rs761317829	missense variant	-	NC_000012.12:g.47994040C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg275Cys	RCV000018912	missense variant	Czech dysplasia metatarsal type	NC_000012.12:g.47994041G>A	ClinVar
COL2A1	P02458	p.Phe277Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47994033G>C	NCI-TCGA
COL2A1	P02458	p.Pro281Leu	rs763778559	missense variant	-	NC_000012.12:g.47994022G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro281Thr	rs751088213	missense variant	-	NC_000012.12:g.47994023G>T	ExAC,gnomAD
COL2A1	P02458	p.Gly282Asp	VAR_063894	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
COL2A1	P02458	p.Leu283Ile	rs1255854822	missense variant	-	NC_000012.12:g.47994017G>T	gnomAD
COL2A1	P02458	p.Pro284Ala	rs1422830655	missense variant	-	NC_000012.12:g.47994014G>C	TOPMed
COL2A1	P02458	p.Gly288Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47994002C>A	NCI-TCGA
COL2A1	P02458	p.Tyr292Asn	rs1291318209	missense variant	-	NC_000012.12:g.47993859A>T	gnomAD
COL2A1	P02458	p.Pro293Arg	rs759396969	missense variant	-	NC_000012.12:g.47993855G>C	ExAC,gnomAD
COL2A1	P02458	p.Leu295Arg	rs202103765	missense variant	-	NC_000012.12:g.47993849A>C	1000Genomes
COL2A1	P02458	p.Leu295ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47993851_47993852insT	NCI-TCGA
COL2A1	P02458	p.Glu301Ala	rs766401230	missense variant	-	NC_000012.12:g.47993831T>G	ExAC,gnomAD
COL2A1	P02458	p.Ala302Val	rs1555168505	missense variant	-	NC_000012.12:g.47993828G>A	-
COL2A1	P02458	p.Ala302Val	RCV000518971	missense variant	-	NC_000012.12:g.47993828G>A	ClinVar
COL2A1	P02458	p.Ala302_Lys308del	VAR_001740	inframe_deletion	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
COL2A1	P02458	p.Gly303Asp	rs121912877	missense variant	-	NC_000012.12:g.47993825C>T	-
COL2A1	P02458	p.Gly303Asp	rs121912877	missense variant	Kniest dysplasia (KD)	NC_000012.12:g.47993825C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly303Asp	VAR_001741	missense variant	Kniest dysplasia (KD)	NC_000012.12:g.47993825C>T	UniProt
COL2A1	P02458	p.Gly303Asp	RCV000724305	missense variant	-	NC_000012.12:g.47993825C>T	ClinVar
COL2A1	P02458	p.Gly303Asp	RCV000018914	missense variant	Kniest dysplasia	NC_000012.12:g.47993825C>T	ClinVar
COL2A1	P02458	p.Ala304Ser	rs984944183	missense variant	-	NC_000012.12:g.47993823C>A	TOPMed
COL2A1	P02458	p.Ala304Thr	rs984944183	missense variant	-	NC_000012.12:g.47993823C>T	TOPMed
COL2A1	P02458	p.Ala304Gly	rs768643056	missense variant	-	NC_000012.12:g.47993822G>C	ExAC,gnomAD
COL2A1	P02458	p.Ala304Val	rs768643056	missense variant	-	NC_000012.12:g.47993822G>A	ExAC,gnomAD
COL2A1	P02458	p.Glu310Gln	rs776930872	missense variant	-	NC_000012.12:g.47993499C>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu310Lys	rs776930872	missense variant	-	NC_000012.12:g.47993499C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro314Leu	rs778135776	missense variant	-	NC_000012.12:g.47993486G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro314Ser	rs747479322	missense variant	-	NC_000012.12:g.47993487G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu316Lys	rs747643988	missense variant	-	NC_000012.12:g.47993481C>T	ExAC,gnomAD
COL2A1	P02458	p.Gly318Arg	rs121912894	missense variant	Rhegmatogenous retinal detachment autosomal dominant (DRRD)	NC_000012.12:g.47993475C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly318Arg	VAR_023925	missense variant	Rhegmatogenous retinal detachment autosomal dominant (DRRD)	NC_000012.12:g.47993475C>T	UniProt
COL2A1	P02458	p.Gly318Arg	rs121912894	missense variant	-	NC_000012.12:g.47993475C>T	-
COL2A1	P02458	p.Gly318Arg	RCV000018940	missense variant	Rhegmatogenous retinal detachment, autosomal dominant (DRRD)	NC_000012.12:g.47993475C>T	ClinVar
COL2A1	P02458	p.Pro320Leu	rs200549186	missense variant	-	NC_000012.12:g.47993468G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro322Leu	rs1382133199	missense variant	-	NC_000012.12:g.47993462G>A	gnomAD
COL2A1	P02458	p.Pro322Ser	rs200696675	missense variant	-	NC_000012.12:g.47993463G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Met323Val	rs755868094	missense variant	-	NC_000012.12:g.47993460T>C	ExAC,gnomAD
COL2A1	P02458	p.Met323Lys	rs1380248932	missense variant	-	NC_000012.12:g.47993459A>T	TOPMed,gnomAD
COL2A1	P02458	p.Met323Ile	rs1342179173	missense variant	-	NC_000012.12:g.47993458C>G	gnomAD
COL2A1	P02458	p.Gly324Ala	rs779569736	missense variant	-	NC_000012.12:g.47992930C>G	ExAC,gnomAD
COL2A1	P02458	p.Pro325Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47992928G>C	NCI-TCGA
COL2A1	P02458	p.Arg326Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47992925G>A	NCI-TCGA
COL2A1	P02458	p.Pro329Arg	rs1211158520	missense variant	-	NC_000012.12:g.47992915G>C	TOPMed,gnomAD
COL2A1	P02458	p.Pro329Leu	rs1211158520	missense variant	-	NC_000012.12:g.47992915G>A	TOPMed,gnomAD
COL2A1	P02458	p.Glu331Gly	rs757091184	missense variant	-	NC_000012.12:g.47992909T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg334Trp	rs372264296	missense variant	-	NC_000012.12:g.47992901G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg334Gln	rs765231668	missense variant	-	NC_000012.12:g.47992900C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr335Ser	rs755043901	missense variant	-	NC_000012.12:g.47992897G>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr335Ile	rs755043901	missense variant	-	NC_000012.12:g.47992897G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr335Ser	RCV000317732	missense variant	Type II Collagenopathies	NC_000012.12:g.47992897G>C	ClinVar
COL2A1	P02458	p.Thr335Ser	RCV000372472	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47992897G>C	ClinVar
COL2A1	P02458	p.Pro337Ser	rs766485093	missense variant	-	NC_000012.12:g.47992892G>A	ExAC,gnomAD
COL2A1	P02458	p.Ala338Pro	rs773412941	missense variant	-	NC_000012.12:g.47992889C>G	ExAC,gnomAD
COL2A1	P02458	p.Ala340Thr	rs762355724	missense variant	-	NC_000012.12:g.47992883C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala341Ser	rs1464610512	missense variant	-	NC_000012.12:g.47992880C>A	gnomAD
COL2A1	P02458	p.Ala341Val	rs368068067	missense variant	-	NC_000012.12:g.47992879G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly342Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47989804C>G	NCI-TCGA
COL2A1	P02458	p.Arg344Gln	rs1315554899	missense variant	-	NC_000012.12:g.47989798C>T	gnomAD
COL2A1	P02458	p.Arg344Ter	RCV000760401	nonsense	-	NC_000012.12:g.47989799G>A	ClinVar
COL2A1	P02458	p.Gly345Ser	rs758295439	missense variant	-	NC_000012.12:g.47989796C>T	ExAC,gnomAD
COL2A1	P02458	p.Asn346Ser	rs1316504411	missense variant	-	NC_000012.12:g.47989792T>C	TOPMed
COL2A1	P02458	p.Asp347Asn	rs547224514	missense variant	-	NC_000012.12:g.47989790C>T	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Asp347Ala	COSM693811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47989789T>G	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly348Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47989787C>A	NCI-TCGA
COL2A1	P02458	p.Gln349Glu	rs779942376	missense variant	-	NC_000012.12:g.47989784G>C	ExAC,gnomAD
COL2A1	P02458	p.Pro350Leu	rs886049448	missense variant	-	NC_000012.12:g.47989780G>A	-
COL2A1	P02458	p.Pro350Leu	RCV000262592	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47989780G>A	ClinVar
COL2A1	P02458	p.Pro350Leu	RCV000375862	missense variant	Type II Collagenopathies	NC_000012.12:g.47989780G>A	ClinVar
COL2A1	P02458	p.Gly351Ser	rs1438029595	missense variant	-	NC_000012.12:g.47989778C>T	gnomAD
COL2A1	P02458	p.Gly351Ter	RCV000175162	frameshift	-	NC_000012.12:g.47989778del	ClinVar
COL2A1	P02458	p.Pro352Leu	rs1294094764	missense variant	-	NC_000012.12:g.47989774G>A	TOPMed,gnomAD
COL2A1	P02458	p.Ala353Thr	rs781554389	missense variant	-	NC_000012.12:g.47989772C>T	ExAC,gnomAD
COL2A1	P02458	p.Ala353Ter	RCV000175163	frameshift	-	NC_000012.12:g.47989776del	ClinVar
COL2A1	P02458	p.Ala353Ser	rs781554389	missense variant	-	NC_000012.12:g.47989772C>A	ExAC,gnomAD
COL2A1	P02458	p.Gly354Arg	rs121912871	missense variant	-	NC_000012.12:g.47989769C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly354Arg	VAR_001742	missense variant	-	NC_000012.12:g.47989769C>T	UniProt
COL2A1	P02458	p.Gly354Arg	rs121912871	missense variant	-	NC_000012.12:g.47989769C>T	-
COL2A1	P02458	p.Gly354Val	rs1555167847	missense variant	-	NC_000012.12:g.47989768C>A	-
COL2A1	P02458	p.Gly354Val	RCV000624737	missense variant	Inborn genetic diseases	NC_000012.12:g.47989768C>A	ClinVar
COL2A1	P02458	p.Gly354Arg	RCV000018907	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47989769C>T	ClinVar
COL2A1	P02458	p.Pro356Leu	rs184529965	missense variant	-	NC_000012.12:g.47989762G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly357Ser	rs1423486005	missense variant	-	NC_000012.12:g.47989281C>T	gnomAD
COL2A1	P02458	p.Gly357Asp	rs1194991685	missense variant	-	NC_000012.12:g.47989280C>T	gnomAD
COL2A1	P02458	p.Pro358Ter	RCV000330199	frameshift	-	NC_000012.12:g.47989279del	ClinVar
COL2A1	P02458	p.Val359Ile	rs563519202	missense variant	-	NC_000012.12:g.47989275C>T	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Val359Phe	rs563519202	missense variant	-	NC_000012.12:g.47989275C>A	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Gly360Ser	rs757504416	missense variant	-	NC_000012.12:g.47989272C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala362Val	rs1256087032	missense variant	-	NC_000012.12:g.47989265G>A	gnomAD
COL2A1	P02458	p.Gly363Asp	rs751843693	missense variant	-	NC_000012.12:g.47989262C>T	ExAC,gnomAD
COL2A1	P02458	p.Phe367Val	COSM939759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47989251A>C	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro368Leu	rs1219147595	missense variant	-	NC_000012.12:g.47989247G>A	gnomAD
COL2A1	P02458	p.Pro368Ser	COSM3461279	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47989248G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly369Arg	rs1085307657	missense variant	-	NC_000012.12:g.47989245C>G	-
COL2A1	P02458	p.Gly369Arg	RCV000490025	missense variant	-	NC_000012.12:g.47989245C>G	ClinVar
COL2A1	P02458	p.Ala370Val	rs953972130	missense variant	-	NC_000012.12:g.47989241G>A	TOPMed
COL2A1	P02458	p.Ala370Gly	rs953972130	missense variant	-	NC_000012.12:g.47989241G>C	TOPMed
COL2A1	P02458	p.Pro371Ser	rs1178508627	missense variant	-	NC_000012.12:g.47989239G>A	TOPMed
COL2A1	P02458	p.Gly372Arg	rs1555167783	missense variant	-	NC_000012.12:g.47989236C>T	-
COL2A1	P02458	p.Gly372Glu	RCV000259706	missense variant	-	NC_000012.12:g.47989235C>T	ClinVar
COL2A1	P02458	p.Gly372Glu	rs794727202	missense variant	-	NC_000012.12:g.47989235C>T	gnomAD
COL2A1	P02458	p.Gly372Arg	RCV000659390	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47989236C>T	ClinVar
COL2A1	P02458	p.Ala373Thr	rs1395676855	missense variant	-	NC_000012.12:g.47989233C>T	TOPMed,gnomAD
COL2A1	P02458	p.Ala373Ser	rs1395676855	missense variant	-	NC_000012.12:g.47989233C>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly375Ser	rs1209142494	missense variant	-	NC_000012.12:g.47987709C>T	gnomAD
COL2A1	P02458	p.Gly375Arg	VAR_001743	Missense	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
COL2A1	P02458	p.Glu376Lys	rs1356859376	missense variant	-	NC_000012.12:g.47987706C>T	gnomAD
COL2A1	P02458	p.Ala377Ser	RCV000521575	missense variant	-	NC_000012.12:g.47987703C>A	ClinVar
COL2A1	P02458	p.Ala377Val	rs1238250996	missense variant	-	NC_000012.12:g.47987702G>A	gnomAD
COL2A1	P02458	p.Ala377Ser	rs1045330263	missense variant	-	NC_000012.12:g.47987703C>A	TOPMed,gnomAD
COL2A1	P02458	p.Thr380Ala	rs748511528	missense variant	-	NC_000012.12:g.47987694T>C	ExAC,gnomAD
COL2A1	P02458	p.Gly381Ser	rs1368832344	missense variant	-	NC_000012.12:g.47987691C>T	gnomAD
COL2A1	P02458	p.Gly381Ala	rs1323542030	missense variant	-	NC_000012.12:g.47987690C>G	gnomAD
COL2A1	P02458	p.Ala382Asp	rs1393423827	missense variant	-	NC_000012.12:g.47987687G>T	gnomAD
COL2A1	P02458	p.Ala382Thr	rs1387850231	missense variant	-	NC_000012.12:g.47987688C>T	TOPMed,gnomAD
COL2A1	P02458	p.Arg383His	rs1417502139	missense variant	-	NC_000012.12:g.47987684C>T	gnomAD
COL2A1	P02458	p.Arg383Gly	rs1287418521	missense variant	-	NC_000012.12:g.47987685G>C	gnomAD
COL2A1	P02458	p.Arg383Cys	rs1287418521	missense variant	-	NC_000012.12:g.47987685G>A	gnomAD
COL2A1	P02458	p.Ala388Thr	rs755466728	missense variant	-	NC_000012.12:g.47987670C>T	ExAC,gnomAD
COL2A1	P02458	p.Gln389Leu	rs1441045605	missense variant	-	NC_000012.12:g.47987666T>A	gnomAD
COL2A1	P02458	p.Arg392His	rs201953356	missense variant	-	NC_000012.12:g.47987657C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg392Cys	rs1375414971	missense variant	-	NC_000012.12:g.47987658G>A	TOPMed,gnomAD
COL2A1	P02458	p.Arg392Leu	COSM6136899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47987657C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly393Ser	rs1025202963	missense variant	-	NC_000012.12:g.47987655C>T	gnomAD
COL2A1	P02458	p.Gly393Ser	RCV000659391	missense variant	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47987655C>T	ClinVar
COL2A1	P02458	p.Pro395Leu	rs1488101815	missense variant	-	NC_000012.12:g.47987648G>A	gnomAD
COL2A1	P02458	p.Pro395Thr	rs755619830	missense variant	-	NC_000012.12:g.47987649G>T	ExAC,gnomAD
COL2A1	P02458	p.Thr397Ile	rs749993924	missense variant	-	NC_000012.12:g.47987642G>A	ExAC,gnomAD
COL2A1	P02458	p.Ser400Tyr	rs1343036672	missense variant	-	NC_000012.12:g.47987633G>T	gnomAD
COL2A1	P02458	p.Pro401Ser	rs1234615322	missense variant	-	NC_000012.12:g.47987631G>A	gnomAD
COL2A1	P02458	p.Ala404Thr	rs1056382493	missense variant	-	NC_000012.12:g.47987622C>T	TOPMed
COL2A1	P02458	p.Gly405Ter	RCV000175420	frameshift	-	NC_000012.12:g.47987619del	ClinVar
COL2A1	P02458	p.Ala406Val	rs1165416342	missense variant	-	NC_000012.12:g.47987615G>A	gnomAD
COL2A1	P02458	p.Ala406Thr	rs1187713792	missense variant	-	NC_000012.12:g.47987616C>T	TOPMed
COL2A1	P02458	p.Ser407Phe	rs1333279417	missense variant	-	NC_000012.12:g.47987612G>A	gnomAD
COL2A1	P02458	p.Asn409Ser	rs775473371	missense variant	-	NC_000012.12:g.47987309T>C	ExAC,gnomAD
COL2A1	P02458	p.Asn409Lys	rs570997824	missense variant	-	NC_000012.12:g.47987308G>T	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Pro410Thr	rs759573039	missense variant	-	NC_000012.12:g.47987307G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro410His	rs773291252	missense variant	-	NC_000012.12:g.47987306G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro410Leu	rs773291252	missense variant	-	NC_000012.12:g.47987306G>A	ExAC,gnomAD
COL2A1	P02458	p.Thr412Ala	rs1235507797	missense variant	-	NC_000012.12:g.47987301T>C	TOPMed
COL2A1	P02458	p.Asp413Asn	rs1356048426	missense variant	-	NC_000012.12:g.47987298C>T	gnomAD
COL2A1	P02458	p.Lys419Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47987280T>C	NCI-TCGA
COL2A1	P02458	p.Ser421Tyr	COSM415838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47987273G>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly423Asp	rs1555167449	missense variant	-	NC_000012.12:g.47987175C>T	-
COL2A1	P02458	p.Gly423Asp	RCV000521567	missense variant	-	NC_000012.12:g.47987175C>T	ClinVar
COL2A1	P02458	p.Pro425Leu	rs371650515	missense variant	-	NC_000012.12:g.47987169G>A	ESP,TOPMed,gnomAD
COL2A1	P02458	p.Ile427Val	rs1247674624	missense variant	-	NC_000012.12:g.47987164T>C	gnomAD
COL2A1	P02458	p.Gly432Val	COSM693813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47987148C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Phe433Val	COSM4042183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47987146A>C	NCI-TCGA Cosmic
COL2A1	P02458	p.Phe433Ter	RCV000599181	frameshift	-	NC_000012.12:g.47987142_47987145del	ClinVar
COL2A1	P02458	p.Pro434Ser	rs140985224	missense variant	-	NC_000012.12:g.47987143G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro434Ser	RCV000723634	missense variant	-	NC_000012.12:g.47987143G>A	ClinVar
COL2A1	P02458	p.Pro436Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47987137G>A	NCI-TCGA
COL2A1	P02458	p.Arg437Trp	rs917659377	missense variant	-	NC_000012.12:g.47987134G>A	TOPMed,gnomAD
COL2A1	P02458	p.Arg437Gly	rs917659377	missense variant	-	NC_000012.12:g.47987134G>C	TOPMed,gnomAD
COL2A1	P02458	p.Arg437Gln	rs991837088	missense variant	-	NC_000012.12:g.47987133C>T	TOPMed,gnomAD
COL2A1	P02458	p.Pro439Ser	rs758071106	missense variant	-	NC_000012.12:g.47987128G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro439Leu	rs1275252428	missense variant	-	NC_000012.12:g.47987127G>A	gnomAD
COL2A1	P02458	p.Pro440SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47987129_47987130insC	NCI-TCGA
COL2A1	P02458	p.Gly444Ser	rs1064796332	missense variant	-	NC_000012.12:g.47987113C>T	-
COL2A1	P02458	p.Gly444Ser	RCV000483756	missense variant	-	NC_000012.12:g.47987113C>T	ClinVar
COL2A1	P02458	p.Thr446Ile	rs532077176	missense variant	-	NC_000012.12:g.47987106G>A	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Thr446Ala	rs1297878387	missense variant	-	NC_000012.12:g.47987107T>C	TOPMed,gnomAD
COL2A1	P02458	p.Gly447Asp	rs886043561	missense variant	-	NC_000012.12:g.47987103C>T	-
COL2A1	P02458	p.Gly447Asp	RCV000284452	missense variant	-	NC_000012.12:g.47987103C>T	ClinVar
COL2A1	P02458	p.Gly447Ser	VAR_001744	Missense	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
COL2A1	P02458	p.Pro448Ser	rs923610032	missense variant	-	NC_000012.12:g.47987101G>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly450Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47987095C>T	NCI-TCGA
COL2A1	P02458	p.Pro451Leu	rs766208636	missense variant	-	NC_000012.12:g.47987091G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro451Arg	rs766208636	missense variant	-	NC_000012.12:g.47987091G>C	ExAC,gnomAD
COL2A1	P02458	p.Pro451Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47987091G>T	NCI-TCGA
COL2A1	P02458	p.Lys452Thr	rs751554148	missense variant	-	NC_000012.12:g.47987088T>G	ExAC,gnomAD
COL2A1	P02458	p.Gly453Ala	rs794727339	missense variant	-	NC_000012.12:g.47987085C>G	-
COL2A1	P02458	p.Gly453Asp	RCV000755953	missense variant	-	NC_000012.12:g.47987085C>T	ClinVar
COL2A1	P02458	p.Gly453Ala	RCV000176186	missense variant	-	NC_000012.12:g.47987085C>G	ClinVar
COL2A1	P02458	p.Gly453Val	VAR_017640	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Gly453Asp	VAR_017639	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Gln454Ter	COSM693815	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47987083G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Thr455Met	rs775754967	missense variant	-	NC_000012.12:g.47987079G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly456Val	rs1555167372	missense variant	-	NC_000012.12:g.47986887C>A	-
COL2A1	P02458	p.Gly456Val	RCV000506133	missense variant	-	NC_000012.12:g.47986887C>A	ClinVar
COL2A1	P02458	p.Gly456Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47986888C>T	NCI-TCGA
COL2A1	P02458	p.Glu457Ter	rs1555167368	stop gained	-	NC_000012.12:g.47986885C>A	-
COL2A1	P02458	p.Glu457Ter	RCV000579316	nonsense	-	NC_000012.12:g.47986885C>A	ClinVar
COL2A1	P02458	p.Pro458Ser	rs764095772	missense variant	-	NC_000012.12:g.47986882G>A	ExAC,gnomAD
COL2A1	P02458	p.Ile460Thr	rs1206699679	missense variant	-	NC_000012.12:g.47986875A>G	TOPMed
COL2A1	P02458	p.Ala461Pro	rs758457623	missense variant	-	NC_000012.12:g.47986873C>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gln467Arg	rs765413831	missense variant	-	NC_000012.12:g.47986854T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gln467Ter	RCV000760602	nonsense	-	NC_000012.12:g.47986855G>A	ClinVar
COL2A1	P02458	p.Pro469Leu	rs759832643	missense variant	-	NC_000012.12:g.47986848G>A	ExAC,gnomAD
COL2A1	P02458	p.Lys470Arg	rs766776002	missense variant	-	NC_000012.12:g.47986845T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu472Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47986840C>T	NCI-TCGA
COL2A1	P02458	p.Pro475Leu	rs1393637578	missense variant	-	NC_000012.12:g.47986439G>A	gnomAD
COL2A1	P02458	p.Pro475Thr	rs757226164	missense variant	-	NC_000012.12:g.47986440G>T	ExAC,gnomAD
COL2A1	P02458	p.Ala476Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47986437C>T	NCI-TCGA
COL2A1	P02458	p.Pro478Ser	rs1293240591	missense variant	-	NC_000012.12:g.47986431G>A	gnomAD
COL2A1	P02458	p.Pro478Leu	rs201823490	missense variant	-	NC_000012.12:g.47986430G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro478Leu	RCV000176388	missense variant	-	NC_000012.12:g.47986430G>A	ClinVar
COL2A1	P02458	p.Gln479ArgPheSerTerUnkUnkUnk	COSM300463	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47986428G>-	NCI-TCGA Cosmic
COL2A1	P02458	p.Ala481Ser	rs1365771563	missense variant	-	NC_000012.12:g.47986422C>A	gnomAD
COL2A1	P02458	p.Pro484Ser	rs1437336337	missense variant	-	NC_000012.12:g.47986413G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro484His	rs1379138676	missense variant	-	NC_000012.12:g.47986412G>T	gnomAD
COL2A1	P02458	p.Ala485Ser	rs556023617	missense variant	-	NC_000012.12:g.47986410C>A	TOPMed,gnomAD
COL2A1	P02458	p.Ala485Thr	rs556023617	missense variant	-	NC_000012.12:g.47986410C>T	TOPMed,gnomAD
COL2A1	P02458	p.Ala485Thr	RCV000506554	missense variant	-	NC_000012.12:g.47986410C>T	ClinVar
COL2A1	P02458	p.Glu487Lys	rs1265020727	missense variant	-	NC_000012.12:g.47986404C>T	TOPMed,gnomAD
COL2A1	P02458	p.Glu488Asp	rs754092365	missense variant	-	NC_000012.12:g.47986399T>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Lys490Asn	rs1490442905	missense variant	-	NC_000012.12:g.47986393C>G	gnomAD
COL2A1	P02458	p.Arg491Lys	rs865942601	missense variant	-	NC_000012.12:g.47986391C>T	gnomAD
COL2A1	P02458	p.Arg491Ile	rs865942601	missense variant	-	NC_000012.12:g.47986391C>A	gnomAD
COL2A1	P02458	p.Gly492Val	rs121912881	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47986388C>A	UniProt,dbSNP
COL2A1	P02458	p.Gly492Val	VAR_001745	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47986388C>A	UniProt
COL2A1	P02458	p.Gly492Val	rs121912881	missense variant	-	NC_000012.12:g.47986388C>A	-
COL2A1	P02458	p.Gly492Val	RCV000018921	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47986388C>A	ClinVar
COL2A1	P02458	p.Ala493Val	rs1214708182	missense variant	-	NC_000012.12:g.47986385G>A	gnomAD
COL2A1	P02458	p.Arg494Pro	rs766574999	missense variant	-	NC_000012.12:g.47986382C>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg494His	rs766574999	missense variant	-	NC_000012.12:g.47986382C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg494Cys	rs1353156898	missense variant	-	NC_000012.12:g.47986383G>A	gnomAD
COL2A1	P02458	p.Gly495Arg	rs1241820517	missense variant	-	NC_000012.12:g.47986380C>T	gnomAD
COL2A1	P02458	p.Glu496Gln	rs1329803286	missense variant	-	NC_000012.12:g.47986377C>G	TOPMed,gnomAD
COL2A1	P02458	p.Pro497Arg	rs761089754	missense variant	-	NC_000012.12:g.47986373G>C	ExAC,gnomAD
COL2A1	P02458	p.Gly499Asp	rs1320649776	missense variant	-	NC_000012.12:g.47986367C>T	TOPMed
COL2A1	P02458	p.Gly499Ser	rs1304647590	missense variant	-	NC_000012.12:g.47986368C>T	gnomAD
COL2A1	P02458	p.Val500Phe	rs768110640	missense variant	-	NC_000012.12:g.47986365C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Val500Ile	RCV000312447	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47986365C>T	ClinVar
COL2A1	P02458	p.Val500Ile	RCV000349004	missense variant	Type II Collagenopathies	NC_000012.12:g.47986365C>T	ClinVar
COL2A1	P02458	p.Val500Ile	rs768110640	missense variant	-	NC_000012.12:g.47986365C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly501Glu	rs1455304547	missense variant	-	NC_000012.12:g.47986361C>T	gnomAD
COL2A1	P02458	p.Gly501Arg	VAR_063896	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
COL2A1	P02458	p.Pro502Leu	rs904660062	missense variant	-	NC_000012.12:g.47986358G>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly504Ser	rs121912880	missense variant	-	NC_000012.12:g.47986353C>T	gnomAD
COL2A1	P02458	p.Gly504Cys	RCV000018920	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47986353C>A	ClinVar
COL2A1	P02458	p.Gly504Ser	RCV000176384	missense variant	-	NC_000012.12:g.47986353C>T	ClinVar
COL2A1	P02458	p.Gly504Cys	rs121912880	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47986353C>A	UniProt,dbSNP
COL2A1	P02458	p.Gly504Cys	VAR_001746	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47986353C>A	UniProt
COL2A1	P02458	p.Gly504Cys	rs121912880	missense variant	-	NC_000012.12:g.47986353C>A	gnomAD
COL2A1	P02458	p.Gly504Ser	RCV000622876	missense variant	Inborn genetic diseases	NC_000012.12:g.47986353C>T	ClinVar
COL2A1	P02458	p.Gly504Cys	RCV000380315	missense variant	-	NC_000012.12:g.47986353C>A	ClinVar
COL2A1	P02458	p.Pro505Ser	rs865903887	missense variant	-	NC_000012.12:g.47986350G>A	gnomAD
COL2A1	P02458	p.Pro505Thr	rs865903887	missense variant	-	NC_000012.12:g.47986350G>T	gnomAD
COL2A1	P02458	p.Gly507Glu	RCV000781310	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47986343C>T	ClinVar
COL2A1	P02458	p.Glu508Gly	rs768225873	missense variant	-	NC_000012.12:g.47986340T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly510Cys	rs1555167157	missense variant	-	NC_000012.12:g.47985965C>A	-
COL2A1	P02458	p.Gly510Cys	RCV000623786	missense variant	Inborn genetic diseases	NC_000012.12:g.47985965C>A	ClinVar
COL2A1	P02458	p.Gly510Asp	VAR_001747	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Pro512Ser	rs1444149100	missense variant	-	NC_000012.12:g.47985959G>A	TOPMed
COL2A1	P02458	p.Gly513Ser	rs1555167156	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47985956C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly513Ser	VAR_024819	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47985956C>T	UniProt
COL2A1	P02458	p.Gly513Ser	rs1555167156	missense variant	-	NC_000012.12:g.47985956C>T	-
COL2A1	P02458	p.Gly513Ser	RCV000508041	missense variant	-	NC_000012.12:g.47985956C>T	ClinVar
COL2A1	P02458	p.Arg515His	rs1326204674	missense variant	-	NC_000012.12:g.47985949C>T	TOPMed,gnomAD
COL2A1	P02458	p.Arg515Cys	rs886043589	missense variant	-	NC_000012.12:g.47985950G>A	-
COL2A1	P02458	p.Arg515Cys	RCV000332539	missense variant	-	NC_000012.12:g.47985950G>A	ClinVar
COL2A1	P02458	p.Gly516Asp	rs121912888	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47985946C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly516Asp	VAR_023926	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47985946C>T	UniProt
COL2A1	P02458	p.Gly516Asp	rs121912888	missense variant	Achondrogenesis, type ii (acg2)	NC_000012.12:g.47985946C>T	-
COL2A1	P02458	p.Gly516Ser	rs886041895	missense variant	-	NC_000012.12:g.47985947C>T	-
COL2A1	P02458	p.Gly516Ser	RCV000274274	missense variant	-	NC_000012.12:g.47985947C>T	ClinVar
COL2A1	P02458	p.Gly516Asp	RCV000022481	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47985946C>T	ClinVar
COL2A1	P02458	p.Gly519Ser	rs1340468176	missense variant	-	NC_000012.12:g.47985938C>T	gnomAD
COL2A1	P02458	p.Gly519Asp	rs1555167139	missense variant	-	NC_000012.12:g.47985937C>T	-
COL2A1	P02458	p.Gly519Asp	RCV000659393	missense variant	Connective tissue disorder	NC_000012.12:g.47985937C>T	ClinVar
COL2A1	P02458	p.Gly519Ter	RCV000599434	frameshift	-	NC_000012.12:g.47985938del	ClinVar
COL2A1	P02458	p.Asp521Asn	rs1270468512	missense variant	-	NC_000012.12:g.47985932C>T	gnomAD
COL2A1	P02458	p.Pro526Arg	rs1229151053	missense variant	-	NC_000012.12:g.47985916G>C	gnomAD
COL2A1	P02458	p.Lys527Glu	rs777145676	missense variant	-	NC_000012.12:g.47985914T>C	TOPMed,gnomAD
COL2A1	P02458	p.Ala529Asp	rs370407502	missense variant	-	NC_000012.12:g.47985822G>T	ESP,TOPMed,gnomAD
COL2A1	P02458	p.Ala529Ser	rs762501353	missense variant	-	NC_000012.12:g.47985823C>A	ExAC,gnomAD
COL2A1	P02458	p.Pro530Ser	rs868084415	missense variant	-	NC_000012.12:g.47985820G>A	gnomAD
COL2A1	P02458	p.Glu532Asp	rs774901867	missense variant	-	NC_000012.12:g.47985812C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu532Lys	rs1354905061	missense variant	-	NC_000012.12:g.47985814C>T	gnomAD
COL2A1	P02458	p.Glu532Gly	rs1330572171	missense variant	-	NC_000012.12:g.47985813T>C	gnomAD
COL2A1	P02458	p.Arg533Ter	rs1085307608	stop gained	-	NC_000012.12:g.47985811G>A	gnomAD
COL2A1	P02458	p.Arg533Gln	rs769447809	missense variant	-	NC_000012.12:g.47985810C>T	ExAC,gnomAD
COL2A1	P02458	p.Arg533Ter	RCV000489991	nonsense	-	NC_000012.12:g.47985811G>A	ClinVar
COL2A1	P02458	p.Ala539Val	rs1378544658	missense variant	-	NC_000012.12:g.47985792G>A	gnomAD
COL2A1	P02458	p.Pro541Leu	rs1234981833	missense variant	-	NC_000012.12:g.47985786G>A	gnomAD
COL2A1	P02458	p.Pro541Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47985786G>C	NCI-TCGA
COL2A1	P02458	p.Ala544Thr	rs746870475	missense variant	-	NC_000012.12:g.47985778C>T	ExAC,gnomAD
COL2A1	P02458	p.Ala544Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47985777G>C	NCI-TCGA
COL2A1	P02458	p.Asn545Lys	rs141321284	missense variant	-	NC_000012.12:g.47985773G>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asn545Ser	rs145042175	missense variant	-	NC_000012.12:g.47985774T>C	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asn545Ser	RCV000278404	missense variant	Type II Collagenopathies	NC_000012.12:g.47985774T>C	ClinVar
COL2A1	P02458	p.Asn545Ser	RCV000373035	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47985774T>C	ClinVar
COL2A1	P02458	p.Asn545Ser	RCV000322902	missense variant	-	NC_000012.12:g.47985774T>C	ClinVar
COL2A1	P02458	p.Gly546Ser	rs886044555	missense variant	-	NC_000012.12:g.47985772C>T	-
COL2A1	P02458	p.Gly546Ser	RCV000489443	missense variant	-	NC_000012.12:g.47985772C>T	ClinVar
COL2A1	P02458	p.Gly546Val	RCV000022483	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47985771C>A	ClinVar
COL2A1	P02458	p.Gly546Val	rs121912899	missense variant	Achondrogenesis, type ii (acg2)	NC_000012.12:g.47985771C>A	-
COL2A1	P02458	p.Asp547Val	VAR_063897	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Arg550Cys	rs1555167091	missense variant	-	NC_000012.12:g.47985760G>A	-
COL2A1	P02458	p.Arg550Leu	rs186233557	missense variant	-	NC_000012.12:g.47985759C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg550His	rs186233557	missense variant	-	NC_000012.12:g.47985759C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg550Cys	RCV000657960	missense variant	-	NC_000012.12:g.47985760G>A	ClinVar
COL2A1	P02458	p.Arg550Leu	RCV000254258	missense variant	-	NC_000012.12:g.47985759C>A	ClinVar
COL2A1	P02458	p.Pro551His	rs1373907168	missense variant	-	NC_000012.12:g.47985756G>T	gnomAD
COL2A1	P02458	p.Pro551Ser	COSM3461275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985757G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro554Thr	rs750687761	missense variant	-	NC_000012.12:g.47985748G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro554Leu	rs781636320	missense variant	-	NC_000012.12:g.47985747G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro557Leu	rs866981761	missense variant	-	NC_000012.12:g.47985738G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro557Ser	COSM3461273	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985739G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro557Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47985739G>T	NCI-TCGA
COL2A1	P02458	p.Gly558Arg	COSM3461271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985736C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Ala559Ser	rs1424853323	missense variant	-	NC_000012.12:g.47985733C>A	TOPMed
COL2A1	P02458	p.Arg560Pro	rs1186241291	missense variant	-	NC_000012.12:g.47985729C>G	TOPMed
COL2A1	P02458	p.Arg560Trp	rs757693116	missense variant	-	NC_000012.12:g.47985730G>A	ExAC,gnomAD
COL2A1	P02458	p.Arg560Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47985729C>T	NCI-TCGA
COL2A1	P02458	p.Gly564Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47985578C>A	NCI-TCGA
COL2A1	P02458	p.Arg565Cys	rs121912884	missense variant	-	NC_000012.12:g.47985575G>A	TOPMed
COL2A1	P02458	p.Arg565Leu	rs372182200	missense variant	-	NC_000012.12:g.47985574C>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg565His	rs372182200	missense variant	-	NC_000012.12:g.47985574C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg565Cys	RCV000413561	missense variant	-	NC_000012.12:g.47985575G>A	ClinVar
COL2A1	P02458	p.Arg565Cys	rs121912884	missense variant	Stickler syndrome 1 (STL1)	NC_000012.12:g.47985575G>A	UniProt,dbSNP
COL2A1	P02458	p.Arg565Cys	VAR_023927	missense variant	Stickler syndrome 1 (STL1)	NC_000012.12:g.47985575G>A	UniProt
COL2A1	P02458	p.Gly570Arg	rs1064797167	missense variant	-	NC_000012.12:g.47985560C>G	-
COL2A1	P02458	p.Gly570Arg	RCV000487933	missense variant	-	NC_000012.12:g.47985560C>G	ClinVar
COL2A1	P02458	p.Pro571Ter	RCV000484169	frameshift	-	NC_000012.12:g.47985560dup	ClinVar
COL2A1	P02458	p.Gly573Ser	RCV000755952	missense variant	-	NC_000012.12:g.47985551C>T	ClinVar
COL2A1	P02458	p.Gly573Arg	rs886042741	missense variant	-	NC_000012.12:g.47985551C>G	-
COL2A1	P02458	p.Gly573Arg	RCV000334874	missense variant	-	NC_000012.12:g.47985551C>G	ClinVar
COL2A1	P02458	p.Gly576Ser	COSM6136901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985542C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro577Ser	rs1437402366	missense variant	-	NC_000012.12:g.47985539G>A	TOPMed
COL2A1	P02458	p.Ser578Pro	rs1243275050	missense variant	-	NC_000012.12:g.47985536A>G	TOPMed,gnomAD
COL2A1	P02458	p.Ser578Ala	rs1243275050	missense variant	-	NC_000012.12:g.47985536A>C	TOPMed,gnomAD
COL2A1	P02458	p.Ala580Ser	rs146604807	missense variant	-	NC_000012.12:g.47985090C>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg586Pro	rs371440147	missense variant	-	NC_000012.12:g.47985071C>G	1000Genomes,ESP,ExAC,gnomAD
COL2A1	P02458	p.Arg586Cys	rs753308111	missense variant	-	NC_000012.12:g.47985072G>A	ExAC,gnomAD
COL2A1	P02458	p.Arg586His	rs371440147	missense variant	-	NC_000012.12:g.47985071C>T	1000Genomes,ESP,ExAC,gnomAD
COL2A1	P02458	p.Pro587Arg	rs767270700	missense variant	-	NC_000012.12:g.47985068G>C	ExAC
COL2A1	P02458	p.Pro587Ser	rs750049178	missense variant	-	NC_000012.12:g.47985069G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro589Ala	rs1385306918	missense variant	-	NC_000012.12:g.47985063G>C	gnomAD
COL2A1	P02458	p.Pro590Leu	rs751452433	missense variant	-	NC_000012.12:g.47985059G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly591Arg	rs886043712	missense variant	-	NC_000012.12:g.47985057C>G	-
COL2A1	P02458	p.Gly591Arg	RCV000271173	missense variant	-	NC_000012.12:g.47985057C>G	ClinVar
COL2A1	P02458	p.Gln593His	COSM4042177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47985049C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Arg596His	RCV000433038	missense variant	-	NC_000012.12:g.47985041C>T	ClinVar
COL2A1	P02458	p.Arg596His	rs1057524199	missense variant	-	NC_000012.12:g.47985041C>T	TOPMed,gnomAD
COL2A1	P02458	p.Gln598His	rs144413189	missense variant	-	NC_000012.12:g.47985034C>A	ESP
COL2A1	P02458	p.Pro599Ser	rs367600621	missense variant	-	NC_000012.12:g.47985033G>A	ESP,ExAC,gnomAD
COL2A1	P02458	p.Gly600Val	rs794727438	missense variant	-	NC_000012.12:g.47985029C>A	-
COL2A1	P02458	p.Gly600Val	RCV000176730	missense variant	-	NC_000012.12:g.47985029C>A	ClinVar
COL2A1	P02458	p.Val601Ala	rs886043814	missense variant	-	NC_000012.12:g.47985026A>G	-
COL2A1	P02458	p.Val601Ala	RCV000341487	missense variant	-	NC_000012.12:g.47985026A>G	ClinVar
COL2A1	P02458	p.Gly606Arg	rs886041945	missense variant	-	NC_000012.12:g.47985012C>G	-
COL2A1	P02458	p.Gly606Arg	RCV000317249	missense variant	-	NC_000012.12:g.47985012C>G	ClinVar
COL2A1	P02458	p.Pro607Ser	rs763003390	missense variant	-	NC_000012.12:g.47985009G>A	ExAC,gnomAD
COL2A1	P02458	p.Gly609Ala	rs140580674	missense variant	-	NC_000012.12:g.47985002C>G	ESP,ExAC,TOPMed
COL2A1	P02458	p.Ala610Asp	rs1293965789	missense variant	-	NC_000012.12:g.47984999G>T	gnomAD
COL2A1	P02458	p.Asn611Thr	rs142492439	missense variant	-	NC_000012.12:g.47984996T>G	ESP,TOPMed,gnomAD
COL2A1	P02458	p.Asn611Ser	rs142492439	missense variant	-	NC_000012.12:g.47984996T>C	ESP,TOPMed,gnomAD
COL2A1	P02458	p.Glu613Lys	rs765275917	missense variant	-	NC_000012.12:g.47984596C>T	ExAC,gnomAD
COL2A1	P02458	p.Lys616Asn	rs1001585299	missense variant	-	NC_000012.12:g.47984585T>G	TOPMed
COL2A1	P02458	p.Ala617Val	rs760648920	missense variant	-	NC_000012.12:g.47984583G>A	ExAC,gnomAD
COL2A1	P02458	p.Gly618Ala	rs1480620991	missense variant	-	NC_000012.12:g.47984580C>G	gnomAD
COL2A1	P02458	p.Glu619Asp	rs1191287105	missense variant	-	NC_000012.12:g.47984576C>A	gnomAD
COL2A1	P02458	p.Glu619Lys	rs1431778644	missense variant	-	NC_000012.12:g.47984578C>T	TOPMed,gnomAD
COL2A1	P02458	p.Gly621Arg	RCV000176855	missense variant	-	NC_000012.12:g.47984572C>T	ClinVar
COL2A1	P02458	p.Gly621Arg	rs794727462	missense variant	-	NC_000012.12:g.47984572C>T	-
COL2A1	P02458	p.Gly621Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47984571C>A	NCI-TCGA
COL2A1	P02458	p.Pro623Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47984566G>T	NCI-TCGA
COL2A1	P02458	p.Gly630Cys	rs1326550771	missense variant	-	NC_000012.12:g.47984140C>A	gnomAD
COL2A1	P02458	p.Pro632Ser	COSM3461267	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47984134G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly633Ser	rs1555166826	missense variant	-	NC_000012.12:g.47984131C>T	-
COL2A1	P02458	p.Gly633Ser	RCV000521936	missense variant	-	NC_000012.12:g.47984131C>T	ClinVar
COL2A1	P02458	p.Asp635His	rs1397534624	missense variant	-	NC_000012.12:g.47984125C>G	gnomAD
COL2A1	P02458	p.Gly636Ser	rs1169850038	missense variant	-	NC_000012.12:g.47984122C>T	gnomAD
COL2A1	P02458	p.Glu637Asp	rs756066656	missense variant	-	NC_000012.12:g.47984117C>A	ExAC,gnomAD
COL2A1	P02458	p.Thr638Lys	rs41263847	missense variant	-	NC_000012.12:g.47984115G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr638Ile	rs41263847	missense variant	-	NC_000012.12:g.47984115G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr638Ile	rs41263847	missense variant	-	NC_000012.12:g.47984115G>A	UniProt,dbSNP
COL2A1	P02458	p.Thr638Ile	VAR_033783	missense variant	-	NC_000012.12:g.47984115G>A	UniProt
COL2A1	P02458	p.Thr638Ile	RCV000328788	missense variant	Type II Collagenopathies	NC_000012.12:g.47984115G>A	ClinVar
COL2A1	P02458	p.Thr638Ile	RCV000364743	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47984115G>A	ClinVar
COL2A1	P02458	p.Gly639Asp	rs1057518908	missense variant	-	NC_000012.12:g.47984112C>T	-
COL2A1	P02458	p.Gly639Ser	rs1446915103	missense variant	-	NC_000012.12:g.47984113C>T	gnomAD
COL2A1	P02458	p.Gly639Asp	RCV000415092	missense variant	Hip dysplasia	NC_000012.12:g.47984112C>T	ClinVar
COL2A1	P02458	p.Ala640Val	rs1231556901	missense variant	-	NC_000012.12:g.47984109G>A	gnomAD
COL2A1	P02458	p.Gly642Ter	rs794727472	stop gained	-	NC_000012.12:g.47984104C>A	gnomAD
COL2A1	P02458	p.Gly642Arg	rs794727472	missense variant	-	NC_000012.12:g.47984104C>T	gnomAD
COL2A1	P02458	p.Gly642Ter	RCV000176926	nonsense	-	NC_000012.12:g.47984104C>A	ClinVar
COL2A1	P02458	p.Gly642Val	RCV000430070	missense variant	-	NC_000012.12:g.47984103C>A	ClinVar
COL2A1	P02458	p.Gly642Val	rs1057524602	missense variant	-	NC_000012.12:g.47984103C>A	-
COL2A1	P02458	p.Pro643Leu	rs1273339342	missense variant	-	NC_000012.12:g.47984100G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro643Thr	rs1438725736	missense variant	-	NC_000012.12:g.47984101G>T	gnomAD
COL2A1	P02458	p.Pro643His	rs1273339342	missense variant	-	NC_000012.12:g.47984100G>T	TOPMed,gnomAD
COL2A1	P02458	p.Ala647Thr	rs758164899	missense variant	-	NC_000012.12:g.47984089C>T	ExAC,gnomAD
COL2A1	P02458	p.Ala647Pro	COSM6136907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47984089C>G	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly648Glu	rs1489214279	missense variant	-	NC_000012.12:g.47983735C>T	gnomAD
COL2A1	P02458	p.Pro649Thr	rs771799983	missense variant	-	NC_000012.12:g.47983733G>T	ExAC,gnomAD
COL2A1	P02458	p.Gly651Asp	rs1447463543	missense variant	-	NC_000012.12:g.47983726C>T	gnomAD
COL2A1	P02458	p.Glu652Lys	rs1269822903	missense variant	-	NC_000012.12:g.47983724C>T	gnomAD
COL2A1	P02458	p.Arg653Ter	rs121912893	stop gained	-	NC_000012.12:g.47983721G>A	gnomAD
COL2A1	P02458	p.Arg653Gln	rs1131691824	missense variant	-	NC_000012.12:g.47983720C>T	-
COL2A1	P02458	p.Arg653Ter	RCV000481275	nonsense	-	NC_000012.12:g.47983721G>A	ClinVar
COL2A1	P02458	p.Arg653Ter	RCV000762896	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47983721G>A	ClinVar
COL2A1	P02458	p.Arg653Ter	RCV000018939	nonsense	Rhegmatogenous retinal detachment, autosomal dominant (DRRD)	NC_000012.12:g.47983721G>A	ClinVar
COL2A1	P02458	p.Arg653Gln	RCV000494109	missense variant	-	NC_000012.12:g.47983720C>T	ClinVar
COL2A1	P02458	p.Arg653Ter	RCV000018938	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47983721G>A	ClinVar
COL2A1	P02458	p.Gly654Ser	rs1322543333	missense variant	-	NC_000012.12:g.47983718C>T	gnomAD
COL2A1	P02458	p.Gly654Asp	rs1284239090	missense variant	-	NC_000012.12:g.47983717C>T	gnomAD
COL2A1	P02458	p.Glu655Lys	rs1359971369	missense variant	-	NC_000012.12:g.47983715C>T	TOPMed,gnomAD
COL2A1	P02458	p.Gly657Ser	rs1269619781	missense variant	-	NC_000012.12:g.47983709C>T	gnomAD
COL2A1	P02458	p.Ala658Val	rs1432147280	missense variant	-	NC_000012.12:g.47983705G>A	gnomAD
COL2A1	P02458	p.Pro659Ser	rs747852608	missense variant	-	NC_000012.12:g.47983703G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly660Glu	rs1555166729	missense variant	-	NC_000012.12:g.47983699C>T	-
COL2A1	P02458	p.Gly660Arg	rs1335293158	missense variant	-	NC_000012.12:g.47983700C>T	gnomAD
COL2A1	P02458	p.Gly660Glu	RCV000578377	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47983699C>T	ClinVar
COL2A1	P02458	p.Ser662Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47983693G>T	NCI-TCGA
COL2A1	P02458	p.Gly666Glu	rs774039842	missense variant	-	NC_000012.12:g.47983437C>T	ExAC,gnomAD
COL2A1	P02458	p.Leu667Ile	rs121912885	missense variant	-	NC_000012.12:g.47983435G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Leu667Phe	rs121912885	missense variant	Rhegmatogenous retinal detachment autosomal dominant (DRRD)	NC_000012.12:g.47983435G>A	UniProt,dbSNP
COL2A1	P02458	p.Leu667Phe	VAR_023928	missense variant	Rhegmatogenous retinal detachment autosomal dominant (DRRD)	NC_000012.12:g.47983435G>A	UniProt
COL2A1	P02458	p.Leu667Phe	rs121912885	missense variant	-	NC_000012.12:g.47983435G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Leu667Phe	RCV000144727	missense variant	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47983435G>A	ClinVar
COL2A1	P02458	p.Leu667Phe	RCV000018927	missense variant	Stickler syndrome, type I, nonsyndromic ocular	NC_000012.12:g.47983435G>A	ClinVar
COL2A1	P02458	p.Pro668Leu	rs1259744514	missense variant	-	NC_000012.12:g.47983431G>A	TOPMed
COL2A1	P02458	p.Pro668Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47983432G>A	NCI-TCGA
COL2A1	P02458	p.Pro671Leu	rs779859256	missense variant	-	NC_000012.12:g.47983422G>A	ExAC,gnomAD
COL2A1	P02458	p.Gly672Ala	rs794727546	missense variant	-	NC_000012.12:g.47983419C>G	-
COL2A1	P02458	p.Gly672Ala	RCV000290485	missense variant	-	NC_000012.12:g.47983419C>G	ClinVar
COL2A1	P02458	p.Pro673Leu	rs570533789	missense variant	-	NC_000012.12:g.47983416G>A	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Pro673Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47983417G>A	NCI-TCGA
COL2A1	P02458	p.Pro674Thr	rs781170462	missense variant	-	NC_000012.12:g.47983414G>T	ExAC
COL2A1	P02458	p.Gly675Arg	rs1423422339	missense variant	-	NC_000012.12:g.47983411C>G	gnomAD
COL2A1	P02458	p.Gly675Asp	RCV000770981	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47983410C>T	ClinVar
COL2A1	P02458	p.Lys679Ter	RCV000735218	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47983399T>A	ClinVar
COL2A1	P02458	p.Asp682Glu	rs41263851	missense variant	-	NC_000012.12:g.47983388G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gln683Lys	rs1003758989	missense variant	-	NC_000012.12:g.47983387G>T	-
COL2A1	P02458	p.Gln683Lys	RCV000523152	missense variant	-	NC_000012.12:g.47983387G>T	ClinVar
COL2A1	P02458	p.Gly684Cys	rs1231988113	missense variant	-	NC_000012.12:g.47983137C>A	gnomAD
COL2A1	P02458	p.Pro686Thr	rs1331195100	missense variant	-	NC_000012.12:g.47983131G>T	gnomAD
COL2A1	P02458	p.Glu688Gly	rs750867405	missense variant	-	NC_000012.12:g.47983124T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu688Lys	COSM3461265	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47983125C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly690Arg	rs1321119554	missense variant	-	NC_000012.12:g.47983119C>T	gnomAD
COL2A1	P02458	p.Gly690Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.47983119C>A	NCI-TCGA
COL2A1	P02458	p.Ala691Thr	rs1250885285	missense variant	-	NC_000012.12:g.47983116C>T	TOPMed
COL2A1	P02458	p.Ala691Asp	rs1025771975	missense variant	-	NC_000012.12:g.47983115G>T	TOPMed,gnomAD
COL2A1	P02458	p.Ala691Val	rs1025771975	missense variant	-	NC_000012.12:g.47983115G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro692Ser	rs745752830	missense variant	-	NC_000012.12:g.47983113G>A	gnomAD
COL2A1	P02458	p.Val695Met	rs751036439	missense variant	-	NC_000012.12:g.47983104C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Val695Met	RCV000761824	missense variant	-	NC_000012.12:g.47983104C>T	ClinVar
COL2A1	P02458	p.Val695Ala	rs140410261	missense variant	-	NC_000012.12:g.47983103A>G	ESP,ExAC,gnomAD
COL2A1	P02458	p.Arg698Lys	rs1444421467	missense variant	-	NC_000012.12:g.47983094C>T	TOPMed
COL2A1	P02458	p.Arg701Gln	rs781555326	missense variant	-	NC_000012.12:g.47982939C>T	ExAC
COL2A1	P02458	p.Arg701Ter	rs1555166555	stop gained	-	NC_000012.12:g.47982940G>A	-
COL2A1	P02458	p.Arg701Ter	RCV000522045	nonsense	-	NC_000012.12:g.47982940G>A	ClinVar
COL2A1	P02458	p.Pro704Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47982931G>A	NCI-TCGA
COL2A1	P02458	p.Gly705Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47982928C>A	NCI-TCGA
COL2A1	P02458	p.Glu706Ala	rs1327107907	missense variant	-	NC_000012.12:g.47982924T>G	gnomAD
COL2A1	P02458	p.Arg707Cys	rs1409377649	missense variant	-	NC_000012.12:g.47982922G>A	gnomAD
COL2A1	P02458	p.Arg707His	rs982272166	missense variant	-	NC_000012.12:g.47982921C>T	TOPMed,gnomAD
COL2A1	P02458	p.Ser709Phe	rs771198337	missense variant	-	NC_000012.12:g.47982915G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro710Leu	rs747446924	missense variant	-	NC_000012.12:g.47982912G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro710Ser	rs1385214650	missense variant	-	NC_000012.12:g.47982913G>A	gnomAD
COL2A1	P02458	p.Gly711Ser	rs1362360030	missense variant	-	NC_000012.12:g.47982910C>T	gnomAD
COL2A1	P02458	p.Ala712Val	COSM939753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47982906G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly714Asp	rs1555166537	missense variant	-	NC_000012.12:g.47982900C>T	-
COL2A1	P02458	p.Gly714Asp	RCV000506248	missense variant	-	NC_000012.12:g.47982900C>T	ClinVar
COL2A1	P02458	p.Leu715Phe	rs1482498887	missense variant	-	NC_000012.12:g.47982898G>A	TOPMed,gnomAD
COL2A1	P02458	p.Leu715Phe	RCV000593043	missense variant	-	NC_000012.12:g.47982898G>A	ClinVar
COL2A1	P02458	p.Gln716Arg	rs1252045461	missense variant	-	NC_000012.12:g.47982894T>C	TOPMed,gnomAD
COL2A1	P02458	p.Gly717Ser	rs387906558	missense variant	Avascular necrosis of femoral head, primary, 1 (ANFH1)	NC_000012.12:g.47982892C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly717Ser	VAR_023929	missense variant	Avascular necrosis of femoral head, primary, 1 (ANFH1)	NC_000012.12:g.47982892C>T	UniProt
COL2A1	P02458	p.Gly717Ser	rs387906558	missense variant	-	NC_000012.12:g.47982892C>T	-
COL2A1	P02458	p.Gly717Ser	RCV000018937	missense variant	Avascular necrosis of the head of femur (ANFH1)	NC_000012.12:g.47982892C>T	ClinVar
COL2A1	P02458	p.Gly717Val	VAR_024820	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Arg719Cys	rs121912865	missense variant	Osteoarthritis with mild chondrodysplasia (OSCDP)	NC_000012.12:g.47982886G>A	UniProt,dbSNP
COL2A1	P02458	p.Arg719Cys	VAR_001748	missense variant	Osteoarthritis with mild chondrodysplasia (OSCDP)	NC_000012.12:g.47982886G>A	UniProt
COL2A1	P02458	p.Arg719Cys	rs121912865	missense variant	-	NC_000012.12:g.47982886G>A	gnomAD
COL2A1	P02458	p.Arg719His	rs535980544	missense variant	-	NC_000012.12:g.47982885C>T	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Arg719Cys	RCV000018896	missense variant	Osteoarthritis with mild chondrodysplasia (OSCDP)	NC_000012.12:g.47982886G>A	ClinVar
COL2A1	P02458	p.Arg719Leu	RCV000177735	missense variant	-	NC_000012.12:g.47982885C>A	ClinVar
COL2A1	P02458	p.Arg719Leu	rs535980544	missense variant	-	NC_000012.12:g.47982885C>A	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Gly720Ser	rs1489630072	missense variant	-	NC_000012.12:g.47982883C>T	gnomAD
COL2A1	P02458	p.Gly720Asp	RCV000593344	missense variant	-	NC_000012.12:g.47982882C>T	ClinVar
COL2A1	P02458	p.Gly720Asp	rs1555166528	missense variant	-	NC_000012.12:g.47982882C>T	-
COL2A1	P02458	p.Gly720Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47982882C>A	NCI-TCGA
COL2A1	P02458	p.Pro722Ser	rs1358219223	missense variant	-	NC_000012.12:g.47982877G>A	gnomAD
COL2A1	P02458	p.Thr724Ala	rs1178605062	missense variant	-	NC_000012.12:g.47982871T>C	TOPMed
COL2A1	P02458	p.Pro725His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47982867G>T	NCI-TCGA
COL2A1	P02458	p.Gly726Ser	rs1351381211	missense variant	-	NC_000012.12:g.47982865C>T	gnomAD
COL2A1	P02458	p.Asp728Gly	rs1408196173	missense variant	-	NC_000012.12:g.47982858T>C	TOPMed
COL2A1	P02458	p.Gly729Val	rs1156538783	missense variant	-	NC_000012.12:g.47982855C>A	TOPMed
COL2A1	P02458	p.Lys731Arg	rs1032496335	missense variant	-	NC_000012.12:g.47982849T>C	TOPMed
COL2A1	P02458	p.Gly732Asp	rs1555166457	missense variant	-	NC_000012.12:g.47982608C>T	-
COL2A1	P02458	p.Gly732Ser	rs1221069783	missense variant	-	NC_000012.12:g.47982609C>T	gnomAD
COL2A1	P02458	p.Gly732Asp	RCV000658409	missense variant	-	NC_000012.12:g.47982608C>T	ClinVar
COL2A1	P02458	p.Ser734Thr	rs761777584	missense variant	-	NC_000012.12:g.47982603A>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro736Gln	rs764188748	missense variant	-	NC_000012.12:g.47982596G>T	ExAC,gnomAD
COL2A1	P02458	p.Ala737Val	COSM939751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47982593G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly738Ala	rs1367822001	missense variant	-	NC_000012.12:g.47982590C>G	gnomAD
COL2A1	P02458	p.Gly738Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47982590C>A	NCI-TCGA
COL2A1	P02458	p.Pro739Leu	rs773380247	missense variant	-	NC_000012.12:g.47982587G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro739Ser	rs766460153	missense variant	-	NC_000012.12:g.47982588G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro739His	rs773380247	missense variant	-	NC_000012.12:g.47982587G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro740His	rs774819000	missense variant	-	NC_000012.12:g.47982584G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro740Thr	rs748569179	missense variant	-	NC_000012.12:g.47982585G>T	ExAC,gnomAD
COL2A1	P02458	p.Gly741Ter	RCV000734152	frameshift	-	NC_000012.12:g.47982589dup	ClinVar
COL2A1	P02458	p.Gly741TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47982583_47982584insG	NCI-TCGA
COL2A1	P02458	p.Gln743Lys	rs779640697	missense variant	-	NC_000012.12:g.47982576G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro745Leu	COSM4398127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47982569G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro746Ser	RCV000659396	missense variant	Connective tissue disorder	NC_000012.12:g.47982567G>A	ClinVar
COL2A1	P02458	p.Pro746Ser	rs1179925303	missense variant	-	NC_000012.12:g.47982567G>A	gnomAD
COL2A1	P02458	p.Glu754Lys	rs1064796856	missense variant	-	NC_000012.12:g.47982543C>T	TOPMed,gnomAD
COL2A1	P02458	p.Glu754Lys	RCV000480768	missense variant	-	NC_000012.12:g.47982543C>T	ClinVar
COL2A1	P02458	p.Ala757Val	rs1229838046	missense variant	-	NC_000012.12:g.47982533G>A	gnomAD
COL2A1	P02458	p.Ala757Thr	rs1278710156	missense variant	-	NC_000012.12:g.47982534C>T	gnomAD
COL2A1	P02458	p.Ala758Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47982531C>T	NCI-TCGA
COL2A1	P02458	p.Ala761Val	rs1243950495	missense variant	-	NC_000012.12:g.47982521G>A	gnomAD
COL2A1	P02458	p.Ala761Thr	rs751436440	missense variant	-	NC_000012.12:g.47982522C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala761Ser	rs751436440	missense variant	-	NC_000012.12:g.47982522C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala761Thr	RCV000288414	missense variant	Type II Collagenopathies	NC_000012.12:g.47982522C>T	ClinVar
COL2A1	P02458	p.Ala761Thr	RCV000343300	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47982522C>T	ClinVar
COL2A1	P02458	p.Asp766Asn	rs1449745124	missense variant	-	NC_000012.12:g.47982507C>T	TOPMed,gnomAD
COL2A1	P02458	p.Asp766Glu	rs1264631701	missense variant	-	NC_000012.12:g.47982505G>T	TOPMed
COL2A1	P02458	p.Gly768Ser	rs1489072715	missense variant	-	NC_000012.12:g.47982160C>T	gnomAD
COL2A1	P02458	p.Val770Phe	rs368583168	missense variant	-	NC_000012.12:g.47982154C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Val770Ile	rs368583168	missense variant	-	NC_000012.12:g.47982154C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Val770Gly	rs767686686	missense variant	-	NC_000012.12:g.47982153A>C	ExAC,gnomAD
COL2A1	P02458	p.Gly771Asp	VAR_017641	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Gly771Ala	VAR_024821	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Gly774Ser	RCV000018901	missense variant	Hypochondrogenesis	NC_000012.12:g.47982142C>T	ClinVar
COL2A1	P02458	p.Gly774Ser	rs121912867	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47982142C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly774Ser	VAR_001749	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47982142C>T	UniProt
COL2A1	P02458	p.Gly774Ser	rs121912867	missense variant	-	NC_000012.12:g.47982142C>T	-
COL2A1	P02458	p.Glu776Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47982134C>A	NCI-TCGA
COL2A1	P02458	p.Glu776Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47982135T>C	NCI-TCGA
COL2A1	P02458	p.Gly777Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47982133C>T	NCI-TCGA
COL2A1	P02458	p.Ala778Val	rs751864679	missense variant	-	NC_000012.12:g.47982129G>A	ExAC,gnomAD
COL2A1	P02458	p.Ala778Thr	rs762047461	missense variant	-	NC_000012.12:g.47982130C>T	ExAC,gnomAD
COL2A1	P02458	p.Gly780Val	COSM1299403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47982123C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly780Arg	VAR_017642	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Asp782Asn	rs763297355	missense variant	-	NC_000012.12:g.47982118C>T	ExAC,gnomAD
COL2A1	P02458	p.Asp782Gly	rs776056563	missense variant	-	NC_000012.12:g.47982117T>C	ExAC,gnomAD
COL2A1	P02458	p.Arg785Gln	rs759073173	missense variant	-	NC_000012.12:g.47982108C>T	ExAC,gnomAD
COL2A1	P02458	p.Arg785Ter	rs886043410	stop gained	-	NC_000012.12:g.47982109G>A	-
COL2A1	P02458	p.Arg785Pro	rs759073173	missense variant	-	NC_000012.12:g.47982108C>G	ExAC,gnomAD
COL2A1	P02458	p.Arg785Ter	RCV000579307	nonsense	-	NC_000012.12:g.47982109G>A	ClinVar
COL2A1	P02458	p.Gly786Ser	rs121912892	missense variant	-	NC_000012.12:g.47981829C>T	gnomAD
COL2A1	P02458	p.Leu787Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47981826G>T	NCI-TCGA
COL2A1	P02458	p.Pro790Leu	rs1396808330	missense variant	-	NC_000012.12:g.47981816G>A	gnomAD
COL2A1	P02458	p.Pro790Ser	rs1306517572	missense variant	-	NC_000012.12:g.47981817G>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly792Ser	rs1306295234	missense variant	-	NC_000012.12:g.47981811C>T	gnomAD
COL2A1	P02458	p.Pro793Thr	rs1391341631	missense variant	-	NC_000012.12:g.47981808G>T	TOPMed,gnomAD
COL2A1	P02458	p.Pro793Ser	rs1391341631	missense variant	-	NC_000012.12:g.47981808G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro793Leu	rs1349357946	missense variant	-	NC_000012.12:g.47981807G>A	TOPMed
COL2A1	P02458	p.Pro794Leu	rs1170957923	missense variant	-	NC_000012.12:g.47981804G>A	gnomAD
COL2A1	P02458	p.Pro794Ser	rs1019915024	missense variant	-	NC_000012.12:g.47981805G>A	TOPMed
COL2A1	P02458	p.Pro794Ter	RCV000659399	frameshift	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47981809del	ClinVar
COL2A1	P02458	p.Gly795Val	rs1472051809	missense variant	-	NC_000012.12:g.47981801C>A	gnomAD
COL2A1	P02458	p.Gly795Ter	RCV000270407	frameshift	-	NC_000012.12:g.47981803del	ClinVar
COL2A1	P02458	p.Gly795Arg	VAR_017643	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Pro796Leu	rs370138748	missense variant	-	NC_000012.12:g.47981798G>A	ESP,ExAC,gnomAD
COL2A1	P02458	p.Pro796Ser	rs1368240211	missense variant	-	NC_000012.12:g.47981799G>A	gnomAD
COL2A1	P02458	p.Ala797Thr	rs1442607613	missense variant	-	NC_000012.12:g.47981796C>T	gnomAD
COL2A1	P02458	p.Gly798Asp	rs753047404	missense variant	-	NC_000012.12:g.47981792C>T	ExAC
COL2A1	P02458	p.Ala799Val	rs1202431343	missense variant	-	NC_000012.12:g.47981789G>A	gnomAD
COL2A1	P02458	p.Ala799Thr	rs1259125291	missense variant	-	NC_000012.12:g.47981790C>T	gnomAD
COL2A1	P02458	p.Glu802Val	rs760317469	missense variant	-	NC_000012.12:g.47981780T>A	ExAC
COL2A1	P02458	p.Glu802Lys	RCV000523996	missense variant	-	NC_000012.12:g.47981781C>T	ClinVar
COL2A1	P02458	p.Glu802Lys	rs148985854	missense variant	-	NC_000012.12:g.47981781C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Lys803Asn	rs771662022	missense variant	-	NC_000012.12:g.47981776C>A	ExAC
COL2A1	P02458	p.Lys803Glu	rs772898695	missense variant	-	NC_000012.12:g.47981778T>C	ExAC
COL2A1	P02458	p.Gly804Glu	rs1286544132	missense variant	-	NC_000012.12:g.47981395C>T	gnomAD
COL2A1	P02458	p.Gly804Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47981396C>T	NCI-TCGA
COL2A1	P02458	p.Gly804Ala	VAR_001751	Missense	-	-	UniProt
COL2A1	P02458	p.Glu805Asp	rs772628060	missense variant	-	NC_000012.12:g.47981391T>G	ExAC,gnomAD
COL2A1	P02458	p.Val806Phe	rs548481093	missense variant	-	NC_000012.12:g.47981390C>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro808Ser	rs1276025680	missense variant	-	NC_000012.12:g.47981384G>A	gnomAD
COL2A1	P02458	p.Pro809Leu	rs1443730468	missense variant	-	NC_000012.12:g.47981380G>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly810Cys	RCV000177904	missense variant	-	NC_000012.12:g.47981378C>A	ClinVar
COL2A1	P02458	p.Gly810Cys	rs794727596	missense variant	-	NC_000012.12:g.47981378C>A	-
COL2A1	P02458	p.Ala812Val	rs767149878	missense variant	-	NC_000012.12:g.47981371G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ser814Asn	rs1320346184	missense variant	-	NC_000012.12:g.47981365C>T	gnomAD
COL2A1	P02458	p.Arg818Leu	rs376834551	missense variant	-	NC_000012.12:g.47981353C>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg818His	rs376834551	missense variant	-	NC_000012.12:g.47981353C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg818Cys	rs1345434851	missense variant	-	NC_000012.12:g.47981354G>A	gnomAD
COL2A1	P02458	p.Ala820Thr	rs371550944	missense variant	-	NC_000012.12:g.47981348C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro821Leu	rs201963052	missense variant	-	NC_000012.12:g.47981344G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro821Ser	rs1455507031	missense variant	-	NC_000012.12:g.47981345G>A	gnomAD
COL2A1	P02458	p.Glu823Asp	rs544962834	missense variant	-	NC_000012.12:g.47980963T>A	gnomAD
COL2A1	P02458	p.Arg824His	rs762709402	missense variant	-	NC_000012.12:g.47980961C>T	ExAC,gnomAD
COL2A1	P02458	p.Arg824Cys	rs1418853798	missense variant	-	NC_000012.12:g.47980962G>A	gnomAD
COL2A1	P02458	p.Gly825Arg	COSM939749	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47980959C>G	NCI-TCGA Cosmic
COL2A1	P02458	p.Glu826Gly	rs1312114770	missense variant	-	NC_000012.12:g.47980955T>C	TOPMed
COL2A1	P02458	p.Thr827Ile	rs1251139942	missense variant	-	NC_000012.12:g.47980952G>A	gnomAD
COL2A1	P02458	p.Pro829Arg	rs375253238	missense variant	-	NC_000012.12:g.47980946G>C	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro829His	rs375253238	missense variant	-	NC_000012.12:g.47980946G>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro829Ser	rs745794356	missense variant	-	NC_000012.12:g.47980947G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro829Leu	rs375253238	missense variant	-	NC_000012.12:g.47980946G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro830Leu	rs1221309294	missense variant	-	NC_000012.12:g.47980943G>A	gnomAD
COL2A1	P02458	p.ProGly830ProArg	rs886044702	missense variant	-	NC_000012.12:g.47980941_47980942delinsTT	-
COL2A1	P02458	p.Gly831Val	rs1555166013	missense variant	-	NC_000012.12:g.47980940C>A	-
COL2A1	P02458	p.Gly831Arg	rs1064796660	missense variant	-	NC_000012.12:g.47980941C>T	-
COL2A1	P02458	p.Gly831Arg	RCV000307527	missense variant	-	NC_000012.12:g.47980941_47980942delinsTT	ClinVar
COL2A1	P02458	p.Gly831Arg	RCV000485567	missense variant	-	NC_000012.12:g.47980941C>T	ClinVar
COL2A1	P02458	p.Gly831Val	RCV000515111	missense variant	-	NC_000012.12:g.47980940C>A	ClinVar
COL2A1	P02458	p.Gly831Ter	RCV000599314	frameshift	-	NC_000012.12:g.47980947dup	ClinVar
COL2A1	P02458	p.Pro832Ala	rs748306980	missense variant	-	NC_000012.12:g.47980938G>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro832Thr	rs748306980	missense variant	-	NC_000012.12:g.47980938G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro832Leu	rs1287197057	missense variant	-	NC_000012.12:g.47980937G>A	gnomAD
COL2A1	P02458	p.Pro832Ser	rs748306980	missense variant	-	NC_000012.12:g.47980938G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala833Thr	rs1391419419	missense variant	-	NC_000012.12:g.47980935C>T	gnomAD
COL2A1	P02458	p.Ala833Val	rs1375464902	missense variant	-	NC_000012.12:g.47980934G>A	TOPMed,gnomAD
COL2A1	P02458	p.Ala836Ser	rs1180343069	missense variant	-	NC_000012.12:g.47980926C>A	TOPMed
COL2A1	P02458	p.Gly837Glu	rs1457277651	missense variant	-	NC_000012.12:g.47980922C>T	gnomAD
COL2A1	P02458	p.Pro838His	rs912002483	missense variant	-	NC_000012.12:g.47980919G>T	TOPMed,gnomAD
COL2A1	P02458	p.Pro838Leu	rs912002483	missense variant	-	NC_000012.12:g.47980919G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro838Ser	rs1394928861	missense variant	-	NC_000012.12:g.47980920G>A	gnomAD
COL2A1	P02458	p.Pro839His	rs1455812046	missense variant	-	NC_000012.12:g.47980916G>T	gnomAD
COL2A1	P02458	p.Gly840Ser	rs1225906671	missense variant	-	NC_000012.12:g.47980661C>T	gnomAD
COL2A1	P02458	p.Ala841Val	rs762619684	missense variant	-	NC_000012.12:g.47980657G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gln844Ter	rs794727607	stop gained	-	NC_000012.12:g.47980649G>A	-
COL2A1	P02458	p.Gln844Ter	RCV000177979	nonsense	-	NC_000012.12:g.47980649G>A	ClinVar
COL2A1	P02458	p.Gly846Arg	rs886042043	missense variant	-	NC_000012.12:g.47980643C>T	-
COL2A1	P02458	p.Gly846Glu	rs1400290624	missense variant	-	NC_000012.12:g.47980642C>T	gnomAD
COL2A1	P02458	p.Gly846Arg	RCV000293167	missense variant	-	NC_000012.12:g.47980643C>T	ClinVar
COL2A1	P02458	p.Lys848Thr	rs1298446581	missense variant	-	NC_000012.12:g.47980636T>G	TOPMed
COL2A1	P02458	p.Gly849Ser	rs1302361762	missense variant	-	NC_000012.12:g.47980634C>T	gnomAD
COL2A1	P02458	p.Gln851Glu	rs776408221	missense variant	-	NC_000012.12:g.47980628G>C	ExAC
COL2A1	P02458	p.Gln851Pro	RCV000422721	missense variant	-	NC_000012.12:g.47980627T>G	ClinVar
COL2A1	P02458	p.Gln851Pro	rs1057524266	missense variant	-	NC_000012.12:g.47980627T>G	-
COL2A1	P02458	p.Glu853Asp	rs770939212	missense variant	-	NC_000012.12:g.47980620C>A	ExAC,gnomAD
COL2A1	P02458	p.Glu853Gly	rs1377808450	missense variant	-	NC_000012.12:g.47980621T>C	gnomAD
COL2A1	P02458	p.Ala854Asp	rs1449303223	missense variant	-	NC_000012.12:g.47980618G>T	gnomAD
COL2A1	P02458	p.Gly855Ser	rs1193507525	missense variant	-	NC_000012.12:g.47980616C>T	gnomAD
COL2A1	P02458	p.Gln856Ter	RCV000760572	nonsense	-	NC_000012.12:g.47980613G>A	ClinVar
COL2A1	P02458	p.Asp859Asn	rs749527439	missense variant	-	NC_000012.12:g.47980604C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly861Asp	rs1209546147	missense variant	-	NC_000012.12:g.47980597C>T	gnomAD
COL2A1	P02458	p.Gly861Asp	RCV000584780	missense variant	Skeletal dysplasia	NC_000012.12:g.47980597C>T	ClinVar
COL2A1	P02458	p.Ala862Val	rs1485674245	missense variant	-	NC_000012.12:g.47980594G>A	gnomAD
COL2A1	P02458	p.Ala862Asp	rs1485674245	missense variant	-	NC_000012.12:g.47980594G>T	gnomAD
COL2A1	P02458	p.Ala862Thr	rs1277416658	missense variant	-	NC_000012.12:g.47980595C>T	TOPMed,gnomAD
COL2A1	P02458	p.Pro863Leu	rs1338557436	missense variant	-	NC_000012.12:g.47980591G>A	gnomAD
COL2A1	P02458	p.Pro863Ser	rs1202916370	missense variant	-	NC_000012.12:g.47980592G>A	gnomAD
COL2A1	P02458	p.Gly864Ser	rs1270518243	missense variant	-	NC_000012.12:g.47980589C>T	gnomAD
COL2A1	P02458	p.Pro865His	rs1229279454	missense variant	-	NC_000012.12:g.47980585G>T	gnomAD
COL2A1	P02458	p.Gly867Val	rs886042849	missense variant	-	NC_000012.12:g.47980579C>A	-
COL2A1	P02458	p.Gly867Val	RCV000393415	missense variant	-	NC_000012.12:g.47980579C>A	ClinVar
COL2A1	P02458	p.Pro868Leu	rs973567389	missense variant	-	NC_000012.12:g.47980576G>A	TOPMed
COL2A1	P02458	p.Pro868Arg	rs973567389	missense variant	-	NC_000012.12:g.47980576G>C	TOPMed
COL2A1	P02458	p.Pro868Ser	rs770043048	missense variant	-	NC_000012.12:g.47980577G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly870Val	RCV000379858	missense variant	-	NC_000012.12:g.47980570C>A	ClinVar
COL2A1	P02458	p.Gly870Val	rs886041429	missense variant	-	NC_000012.12:g.47980570C>A	-
COL2A1	P02458	p.Ala871Thr	rs781523352	missense variant	-	NC_000012.12:g.47980568C>T	ExAC,gnomAD
COL2A1	P02458	p.Pro872Leu	rs1306772996	missense variant	-	NC_000012.12:g.47980564G>A	gnomAD
COL2A1	P02458	p.Gly873Glu	rs886042009	missense variant	-	NC_000012.12:g.47980561C>T	-
COL2A1	P02458	p.Gly873Val	rs886042009	missense variant	-	NC_000012.12:g.47980561C>A	-
COL2A1	P02458	p.Gly873Arg	rs886041713	missense variant	-	NC_000012.12:g.47980562C>T	gnomAD
COL2A1	P02458	p.Gly873Trp	RCV000335506	missense variant	-	NC_000012.12:g.47980562C>A	ClinVar
COL2A1	P02458	p.Gly873Glu	RCV000271693	missense variant	-	NC_000012.12:g.47980561C>T	ClinVar
COL2A1	P02458	p.Gly873Val	RCV000660367	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47980561C>A	ClinVar
COL2A1	P02458	p.Gly873Trp	rs886041713	missense variant	-	NC_000012.12:g.47980562C>A	gnomAD
COL2A1	P02458	p.Pro874Ser	rs377198201	missense variant	-	NC_000012.12:g.47980559G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro874Leu	rs1170029304	missense variant	-	NC_000012.12:g.47980558G>A	gnomAD
COL2A1	P02458	p.Pro874Thr	rs377198201	missense variant	-	NC_000012.12:g.47980559G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro874Ser	RCV000755954	missense variant	-	NC_000012.12:g.47980559G>A	ClinVar
COL2A1	P02458	p.Pro874Thr	RCV000595545	missense variant	-	NC_000012.12:g.47980559G>T	ClinVar
COL2A1	P02458	p.Thr878Ala	rs147760401	missense variant	-	NC_000012.12:g.47980056T>C	ESP,TOPMed,gnomAD
COL2A1	P02458	p.Val880Met	RCV000407780	missense variant	-	NC_000012.12:g.47980050C>T	ClinVar
COL2A1	P02458	p.Val880Met	rs886043832	missense variant	-	NC_000012.12:g.47980050C>T	gnomAD
COL2A1	P02458	p.Thr881Ala	rs1370767780	missense variant	-	NC_000012.12:g.47980047T>C	gnomAD
COL2A1	P02458	p.Thr881Ile	rs768219590	missense variant	-	NC_000012.12:g.47980046G>A	TOPMed
COL2A1	P02458	p.Thr881Ser	rs768219590	missense variant	-	NC_000012.12:g.47980046G>C	TOPMed
COL2A1	P02458	p.Gly882Asp	rs1327027348	missense variant	-	NC_000012.12:g.47980043C>T	gnomAD
COL2A1	P02458	p.Ala886Thr	rs1396230731	missense variant	-	NC_000012.12:g.47980032C>T	gnomAD
COL2A1	P02458	p.Ala886Val	rs1315785291	missense variant	-	NC_000012.12:g.47980031G>A	gnomAD
COL2A1	P02458	p.Arg887Ter	rs1399676515	stop gained	-	NC_000012.12:g.47980029G>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly891Arg	rs121912879	missense variant	Achondrogenesis, type ii (acg2)	NC_000012.12:g.47980017C>G	-
COL2A1	P02458	p.Gly891Arg	rs121912879	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47980017C>G	UniProt,dbSNP
COL2A1	P02458	p.Gly891Arg	VAR_001752	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47980017C>G	UniProt
COL2A1	P02458	p.Gly891Arg	RCV000022480	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47980017C>G	ClinVar
COL2A1	P02458	p.Pro892Leu	rs1160269578	missense variant	-	NC_000012.12:g.47980013G>A	gnomAD
COL2A1	P02458	p.Pro893Leu	rs1394353561	missense variant	-	NC_000012.12:g.47980010G>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly894Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47979564C>T	NCI-TCGA
COL2A1	P02458	p.Gly894Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47979563C>T	NCI-TCGA
COL2A1	P02458	p.Gly894Glu	VAR_017644	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Ala895Thr	rs1193506581	missense variant	-	NC_000012.12:g.47979561C>T	TOPMed
COL2A1	P02458	p.Gly897Glu	rs1281743095	missense variant	-	NC_000012.12:g.47979554C>T	gnomAD
COL2A1	P02458	p.Gly897Val	VAR_023931	Missense	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]	-	UniProt
COL2A1	P02458	p.Gly900Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47979545C>T	NCI-TCGA
COL2A1	P02458	p.Ala902Asp	rs1213623474	missense variant	-	NC_000012.12:g.47979539G>T	gnomAD
COL2A1	P02458	p.Ala902Val	rs1213623474	missense variant	-	NC_000012.12:g.47979539G>A	gnomAD
COL2A1	P02458	p.Arg904His	rs201544025	missense variant	-	NC_000012.12:g.47979533C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg904Cys	RCV000414959	missense variant	Myopia	NC_000012.12:g.47979534G>A	ClinVar
COL2A1	P02458	p.Arg904Cys	RCV000513905	missense variant	-	NC_000012.12:g.47979534G>A	ClinVar
COL2A1	P02458	p.Arg904Cys	RCV000018922	missense variant	Epiphyseal dysplasia, multiple, with myopia and conductive deafness (EDMMD)	NC_000012.12:g.47979534G>A	ClinVar
COL2A1	P02458	p.Arg904Cys	rs121912882	missense variant	-	NC_000012.12:g.47979534G>A	TOPMed
COL2A1	P02458	p.Arg904Cys	rs121912882	missense variant	Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD)	NC_000012.12:g.47979534G>A	UniProt,dbSNP
COL2A1	P02458	p.Arg904Cys	VAR_017645	missense variant	Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD)	NC_000012.12:g.47979534G>A	UniProt
COL2A1	P02458	p.Val905Ala	rs1271505111	missense variant	-	NC_000012.12:g.47979530A>G	gnomAD
COL2A1	P02458	p.Val905Ile	rs759822181	missense variant	-	NC_000012.12:g.47979531C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro907Ser	rs1398589070	missense variant	-	NC_000012.12:g.47979525G>A	TOPMed
COL2A1	P02458	p.Gly909Cys	rs121912875	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47979519C>A	UniProt,dbSNP
COL2A1	P02458	p.Gly909Cys	VAR_001753	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47979519C>A	UniProt
COL2A1	P02458	p.Gly909Cys	rs121912875	missense variant	-	NC_000012.12:g.47979519C>A	-
COL2A1	P02458	p.Gly909Cys	RCV000018911	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47979519C>A	ClinVar
COL2A1	P02458	p.Pro916Ser	rs748669015	missense variant	-	NC_000012.12:g.47978746G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro916Thr	rs748669015	missense variant	-	NC_000012.12:g.47978746G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro917Leu	rs529306283	missense variant	-	NC_000012.12:g.47978742G>A	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Pro917LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47978742G>-	NCI-TCGA
COL2A1	P02458	p.Gly918Arg	RCV000757108	missense variant	-	NC_000012.12:g.47978740C>G	ClinVar
COL2A1	P02458	p.Pro919Ser	rs1178264170	missense variant	-	NC_000012.12:g.47978737G>A	gnomAD
COL2A1	P02458	p.Pro919Leu	rs768207318	missense variant	-	NC_000012.12:g.47978736G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro920Ser	rs748788147	missense variant	-	NC_000012.12:g.47978734G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro922Ser	rs769590506	missense variant	-	NC_000012.12:g.47978728G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp926Gly	rs1246355642	missense variant	-	NC_000012.12:g.47978715T>C	gnomAD
COL2A1	P02458	p.Pro928Ser	rs757198490	missense variant	-	NC_000012.12:g.47978710G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro928Thr	rs757198490	missense variant	-	NC_000012.12:g.47978710G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly930Arg	rs886043540	missense variant	-	NC_000012.12:g.47978704C>G	-
COL2A1	P02458	p.Gly930Asp	rs1555165501	missense variant	-	NC_000012.12:g.47978703C>T	-
COL2A1	P02458	p.Gly930Arg	RCV000312846	missense variant	-	NC_000012.12:g.47978704C>G	ClinVar
COL2A1	P02458	p.Gly930Ser	COSM3461251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978704C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly930Asp	RCV000622409	missense variant	Inborn genetic diseases	NC_000012.12:g.47978703C>T	ClinVar
COL2A1	P02458	p.Ala931Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47978700G>T	NCI-TCGA
COL2A1	P02458	p.Arg932Ter	rs121912866	stop gained	-	NC_000012.12:g.47978698G>A	-
COL2A1	P02458	p.Arg932Gln	rs570320774	missense variant	-	NC_000012.12:g.47978697C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg932Ter	RCV000726311	nonsense	-	NC_000012.12:g.47978698G>A	ClinVar
COL2A1	P02458	p.Arg932Ter	RCV000018899	nonsense	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47978698G>A	ClinVar
COL2A1	P02458	p.Asp934His	rs1350090082	missense variant	-	NC_000012.12:g.47978692C>G	TOPMed
COL2A1	P02458	p.Gly936Ser	rs777615798	missense variant	-	NC_000012.12:g.47978686C>T	ExAC,gnomAD
COL2A1	P02458	p.Pro937Ser	rs1440896814	missense variant	-	NC_000012.12:g.47978683G>A	TOPMed
COL2A1	P02458	p.Pro937Ala	rs1440896814	missense variant	-	NC_000012.12:g.47978683G>C	TOPMed
COL2A1	P02458	p.Pro937Leu	COSM3398744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978682G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro938Ser	rs200772957	missense variant	-	NC_000012.12:g.47978680G>A	1000Genomes
COL2A1	P02458	p.Pro938Ter	RCV000255509	frameshift	-	NC_000012.12:g.47978684del	ClinVar
COL2A1	P02458	p.Gly939Ala	rs1195861128	missense variant	-	NC_000012.12:g.47978676C>G	TOPMed
COL2A1	P02458	p.Gly939Ter	RCV000497484	frameshift	-	NC_000012.12:g.47978678del	ClinVar
COL2A1	P02458	p.Arg940Leu	rs533540496	missense variant	-	NC_000012.12:g.47978673C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg940Gln	rs533540496	missense variant	-	NC_000012.12:g.47978673C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg940Pro	rs533540496	missense variant	-	NC_000012.12:g.47978673C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg940Ter	RCV000438911	nonsense	-	NC_000012.12:g.47978674G>A	ClinVar
COL2A1	P02458	p.Arg940Gln	RCV000406174	missense variant	Type II Collagenopathies	NC_000012.12:g.47978673C>T	ClinVar
COL2A1	P02458	p.Arg940Pro	RCV000659401	missense variant	Connective tissue disorder	NC_000012.12:g.47978673C>G	ClinVar
COL2A1	P02458	p.Arg940Gln	RCV000289195	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47978673C>T	ClinVar
COL2A1	P02458	p.Arg940Ter	rs1057524114	stop gained	-	NC_000012.12:g.47978674G>A	-
COL2A1	P02458	p.Gly942Ala	rs886041914	missense variant	-	NC_000012.12:g.47978667C>G	gnomAD
COL2A1	P02458	p.Gly942Asp	rs886041914	missense variant	-	NC_000012.12:g.47978667C>T	gnomAD
COL2A1	P02458	p.Gly942Asp	RCV000285557	missense variant	-	NC_000012.12:g.47978667C>T	ClinVar
COL2A1	P02458	p.Glu943Ala	rs971819737	missense variant	-	NC_000012.12:g.47978664T>G	TOPMed
COL2A1	P02458	p.Glu943Lys	rs1187182659	missense variant	-	NC_000012.12:g.47978665C>T	TOPMed
COL2A1	P02458	p.Pro944Leu	rs140368756	missense variant	-	NC_000012.12:g.47978661G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro944His	rs140368756	missense variant	-	NC_000012.12:g.47978661G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro944Leu	RCV000508472	missense variant	-	NC_000012.12:g.47978661G>A	ClinVar
COL2A1	P02458	p.Gly945Ser	rs886039542	missense variant	-	NC_000012.12:g.47978659C>T	gnomAD
COL2A1	P02458	p.Gly945Ser	RCV000254943	missense variant	-	NC_000012.12:g.47978659C>T	ClinVar
COL2A1	P02458	p.Gln947His	rs750729151	missense variant	-	NC_000012.12:g.47978651T>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly948Asp	VAR_017646	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Pro949Ser	rs371991954	missense variant	-	NC_000012.12:g.47978647G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro949Leu	COSM3461249	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978646G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Ala950Ser	rs762151026	missense variant	-	NC_000012.12:g.47978644C>A	ExAC,gnomAD
COL2A1	P02458	p.Pro952Leu	rs1260980345	missense variant	-	NC_000012.12:g.47978637G>A	TOPMed
COL2A1	P02458	p.Pro952Arg	rs1260980345	missense variant	-	NC_000012.12:g.47978637G>C	TOPMed
COL2A1	P02458	p.Pro952Thr	rs140740708	missense variant	-	NC_000012.12:g.47978638G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu955Lys	rs1373299848	missense variant	-	NC_000012.12:g.47978629C>T	TOPMed
COL2A1	P02458	p.Gly960Arg	COSM3461247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978614C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Asp961Asn	COSM693821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978611C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly963Ser	rs1215825701	missense variant	-	NC_000012.12:g.47978605C>T	gnomAD
COL2A1	P02458	p.Pro964Leu	rs762474697	missense variant	-	NC_000012.12:g.47978601G>A	ExAC
COL2A1	P02458	p.Pro964Ser	COSM3461245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978602G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Ala967Thr	rs1166535671	missense variant	-	NC_000012.12:g.47978395C>T	gnomAD
COL2A1	P02458	p.Glu968Gly	rs1193442202	missense variant	-	NC_000012.12:g.47978391T>C	gnomAD
COL2A1	P02458	p.Glu968Lys	rs144572461	missense variant	-	NC_000012.12:g.47978392C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly969Ser	rs121912878	missense variant	Achondrogenesis, type ii (acg2)	NC_000012.12:g.47978389C>T	-
COL2A1	P02458	p.Gly969Ser	rs121912878	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47978389C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly969Ser	VAR_001754	missense variant	Achondrogenesis 2 (ACG2)	NC_000012.12:g.47978389C>T	UniProt
COL2A1	P02458	p.Gly969Ser	RCV000018915	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47978389C>T	ClinVar
COL2A1	P02458	p.Pro970Leu	rs371268468	missense variant	-	NC_000012.12:g.47978385G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro973Leu	rs1437419245	missense variant	-	NC_000012.12:g.47978376G>A	gnomAD
COL2A1	P02458	p.Gln974Arg	rs776404713	missense variant	-	NC_000012.12:g.47978373T>C	ExAC,gnomAD
COL2A1	P02458	p.Ala977Thr	rs1186549251	missense variant	-	NC_000012.12:g.47978365C>T	gnomAD
COL2A1	P02458	p.Arg980Lys	rs1457365714	missense variant	-	NC_000012.12:g.47978355C>T	TOPMed
COL2A1	P02458	p.Gly981Asp	rs1485969403	missense variant	-	NC_000012.12:g.47978352C>T	gnomAD
COL2A1	P02458	p.Gly981Ser	VAR_017647	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Ile982Phe	rs1239633408	missense variant	-	NC_000012.12:g.47978350T>A	TOPMed,gnomAD
COL2A1	P02458	p.Val983Ile	rs772889503	missense variant	-	NC_000012.12:g.47978347C>T	ExAC,gnomAD
COL2A1	P02458	p.Val983Ala	rs1252164163	missense variant	-	NC_000012.12:g.47978346A>G	gnomAD
COL2A1	P02458	p.Gly984Cys	COSM4042171	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978344C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly987Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47978334C>T	NCI-TCGA
COL2A1	P02458	p.Gly987Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47978335C>T	NCI-TCGA
COL2A1	P02458	p.Arg989Cys	rs121912874	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47978329G>A	UniProt,dbSNP
COL2A1	P02458	p.Arg989Cys	VAR_001755	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47978329G>A	UniProt
COL2A1	P02458	p.Arg989Cys	rs121912874	missense variant	-	NC_000012.12:g.47978329G>A	-
COL2A1	P02458	p.Arg989His	rs756155678	missense variant	-	NC_000012.12:g.47978328C>T	ExAC,gnomAD
COL2A1	P02458	p.Arg989Cys	RCV000478360	missense variant	-	NC_000012.12:g.47978329G>A	ClinVar
COL2A1	P02458	p.Arg989Cys	RCV000762895	missense variant	Achondrogenesis, type II (ACG2)	NC_000012.12:g.47978329G>A	ClinVar
COL2A1	P02458	p.Arg989Cys	RCV000018910	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47978329G>A	ClinVar
COL2A1	P02458	p.Arg992Lys	rs1342790437	missense variant	-	NC_000012.12:g.47978319C>T	gnomAD
COL2A1	P02458	p.Arg992Gly	rs121912895	missense variant	-	NC_000012.12:g.47978320T>C	-
COL2A1	P02458	p.Arg992Gly	rs121912895	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47978320T>C	UniProt,dbSNP
COL2A1	P02458	p.Arg992Gly	VAR_023932	missense variant	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)	NC_000012.12:g.47978320T>C	UniProt
COL2A1	P02458	p.Arg992Gly	RCV000018941	missense variant	Spondylometaphyseal dysplasia (SEMDSTWK)	NC_000012.12:g.47978320T>C	ClinVar
COL2A1	P02458	p.Phe994Leu	rs1050159062	missense variant	-	NC_000012.12:g.47978314A>G	TOPMed
COL2A1	P02458	p.Pro998Ser	rs781341152	missense variant	-	NC_000012.12:g.47978302G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro998Thr	rs781341152	missense variant	-	NC_000012.12:g.47978302G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro998Leu	rs757449808	missense variant	-	NC_000012.12:g.47978301G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly999Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47978298C>T	NCI-TCGA
COL2A1	P02458	p.Pro1000Arg	rs149321146	missense variant	-	NC_000012.12:g.47978295G>C	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1000Leu	rs149321146	missense variant	-	NC_000012.12:g.47978295G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ser1001Leu	rs765898571	missense variant	-	NC_000012.12:g.47978292G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1002Ser	rs1204578885	missense variant	-	NC_000012.12:g.47978117C>T	gnomAD
COL2A1	P02458	p.Glu1003Gly	rs765802815	missense variant	-	NC_000012.12:g.47978113T>C	ExAC,gnomAD
COL2A1	P02458	p.Glu1003Lys	rs376772481	missense variant	-	NC_000012.12:g.47978114C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1005Ser	rs753342774	missense variant	-	NC_000012.12:g.47978108C>T	ExAC,gnomAD
COL2A1	P02458	p.Gln1007Pro	rs1041748968	missense variant	-	NC_000012.12:g.47978101T>G	gnomAD
COL2A1	P02458	p.Gln1007Arg	rs1041748968	missense variant	-	NC_000012.12:g.47978101T>C	gnomAD
COL2A1	P02458	p.Gly1008Asp	rs765795867	missense variant	-	NC_000012.12:g.47978098C>T	ExAC,gnomAD
COL2A1	P02458	p.Gly1008Val	rs765795867	missense variant	-	NC_000012.12:g.47978098C>A	ExAC,gnomAD
COL2A1	P02458	p.Gly1008Val	RCV000415214	missense variant	-	NC_000012.12:g.47978098C>A	ClinVar
COL2A1	P02458	p.Ala1009Val	rs1315629927	missense variant	-	NC_000012.12:g.47978095G>A	TOPMed,gnomAD
COL2A1	P02458	p.Gly1011Glu	rs1399545984	missense variant	-	NC_000012.12:g.47978089C>T	gnomAD
COL2A1	P02458	p.Ser1013Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47978083G>T	NCI-TCGA
COL2A1	P02458	p.Gly1014Ala	rs1361163432	missense variant	-	NC_000012.12:g.47978080C>G	gnomAD
COL2A1	P02458	p.Gly1014Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47978081C>T	NCI-TCGA
COL2A1	P02458	p.Asp1015His	rs1432686610	missense variant	-	NC_000012.12:g.47978078C>G	gnomAD
COL2A1	P02458	p.Arg1016Lys	rs146046296	missense variant	-	NC_000012.12:g.47978074C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1016Ile	rs146046296	missense variant	-	NC_000012.12:g.47978074C>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1016Lys	RCV000387243	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47978074C>T	ClinVar
COL2A1	P02458	p.Arg1016Lys	RCV000333414	missense variant	Type II Collagenopathies	NC_000012.12:g.47978074C>T	ClinVar
COL2A1	P02458	p.Gly1017Val	VAR_001757	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Gly1017_Val1022del	VAR_017648	inframe_deletion	-	-	UniProt
COL2A1	P02458	p.Pro1018Leu	rs1191511314	missense variant	-	NC_000012.12:g.47978068G>A	gnomAD
COL2A1	P02458	p.Pro1018His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47978068G>T	NCI-TCGA
COL2A1	P02458	p.Pro1019Ser	COSM3461243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47978066G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Val1022Met	rs199642249	missense variant	-	NC_000012.12:g.47978057C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Val1022Leu	rs199642249	missense variant	-	NC_000012.12:g.47978057C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1024Thr	rs1288854292	missense variant	-	NC_000012.12:g.47978051G>T	gnomAD
COL2A1	P02458	p.Pro1025Ser	rs1301506668	missense variant	-	NC_000012.12:g.47978048G>A	TOPMed
COL2A1	P02458	p.Gly1026Ala	rs1555165336	missense variant	-	NC_000012.12:g.47978044C>G	-
COL2A1	P02458	p.Gly1026Ala	RCV000623306	missense variant	Inborn genetic diseases	NC_000012.12:g.47978044C>G	ClinVar
COL2A1	P02458	p.Thr1028Met	rs770907704	missense variant	-	NC_000012.12:g.47978038G>A	ExAC,gnomAD
COL2A1	P02458	p.Arg1036Gly	rs748459670	missense variant	-	NC_000012.12:g.47978015G>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1036Gln	rs201956851	missense variant	-	NC_000012.12:g.47978014C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1036Ter	rs748459670	stop gained	-	NC_000012.12:g.47978015G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1036Ter	RCV000479858	nonsense	-	NC_000012.12:g.47978015G>A	ClinVar
COL2A1	P02458	p.Glu1037Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47978010C>A	NCI-TCGA
COL2A1	P02458	p.Ser1039Arg	rs780375782	missense variant	-	NC_000012.12:g.47977650T>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ser1039Gly	rs780375782	missense variant	-	NC_000012.12:g.47977650T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1040Ser	rs756676390	missense variant	-	NC_000012.12:g.47977647G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro1040Leu	rs978657987	missense variant	-	NC_000012.12:g.47977646G>A	gnomAD
COL2A1	P02458	p.Gly1044Ala	rs1229928635	missense variant	-	NC_000012.12:g.47977634C>G	gnomAD
COL2A1	P02458	p.Pro1045Ser	rs756815438	missense variant	-	NC_000012.12:g.47977632G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro1045Ala	rs756815438	missense variant	-	NC_000012.12:g.47977632G>C	ExAC,gnomAD
COL2A1	P02458	p.Pro1045Leu	rs1447163279	missense variant	-	NC_000012.12:g.47977631G>A	gnomAD
COL2A1	P02458	p.Pro1046Arg	rs763772608	missense variant	-	NC_000012.12:g.47977628G>C	ExAC,gnomAD
COL2A1	P02458	p.Pro1046Ala	rs751205887	missense variant	-	NC_000012.12:g.47977629G>C	ExAC,gnomAD
COL2A1	P02458	p.Pro1046LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47977628G>-	NCI-TCGA
COL2A1	P02458	p.Gly1047Ser	rs1555165245	missense variant	-	NC_000012.12:g.47977626C>T	-
COL2A1	P02458	p.Gly1047Ser	RCV000507539	missense variant	-	NC_000012.12:g.47977626C>T	ClinVar
COL2A1	P02458	p.Gly1047Ter	RCV000018909	frameshift	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47977627del	ClinVar
COL2A1	P02458	p.Gly1047Ter	RCV000725373	frameshift	-	NC_000012.12:g.47977627del	ClinVar
COL2A1	P02458	p.Gly1047TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47977627_47977628insG	NCI-TCGA
COL2A1	P02458	p.Arg1048Ser	rs758162798	missense variant	-	NC_000012.12:g.47977621T>A	ExAC,gnomAD
COL2A1	P02458	p.Asp1049Asn	rs752571750	missense variant	-	NC_000012.12:g.47977620C>T	ExAC,gnomAD
COL2A1	P02458	p.Gly1050Asp	rs1555165242	missense variant	-	NC_000012.12:g.47977616C>T	-
COL2A1	P02458	p.Gly1050Asp	RCV000593974	missense variant	-	NC_000012.12:g.47977616C>T	ClinVar
COL2A1	P02458	p.Ala1051Thr	rs41272041	missense variant	-	NC_000012.12:g.47977614C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala1051Thr	RCV000372933	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47977614C>T	ClinVar
COL2A1	P02458	p.Ala1051Thr	RCV000278323	missense variant	Type II Collagenopathies	NC_000012.12:g.47977614C>T	ClinVar
COL2A1	P02458	p.Gly1053Glu	rs121912868	missense variant	-	NC_000012.12:g.47977607C>T	-
COL2A1	P02458	p.Gly1053Glu	rs121912868	missense variant	-	NC_000012.12:g.47977607C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly1053Glu	VAR_001758	missense variant	-	NC_000012.12:g.47977607C>T	UniProt
COL2A1	P02458	p.Gly1053Arg	rs1555165237	missense variant	-	NC_000012.12:g.47977608C>T	-
COL2A1	P02458	p.Gly1053Ter	RCV000414107	frameshift	-	NC_000012.12:g.47977609dup	ClinVar
COL2A1	P02458	p.Gly1053Arg	RCV000507036	missense variant	-	NC_000012.12:g.47977608C>T	ClinVar
COL2A1	P02458	p.Gly1053Glu	RCV000018903	missense variant	Hypochondrogenesis	NC_000012.12:g.47977607C>T	ClinVar
COL2A1	P02458	p.Val1054Ile	rs371635111	missense variant	-	NC_000012.12:g.47977605C>T	TOPMed,gnomAD
COL2A1	P02458	p.Asp1057Asn	rs1380658714	missense variant	-	NC_000012.12:g.47977424C>T	gnomAD
COL2A1	P02458	p.Arg1058Cys	rs148350640	missense variant	-	NC_000012.12:g.47977421G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1058Leu	rs774603840	missense variant	-	NC_000012.12:g.47977420C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1058Ser	rs148350640	missense variant	-	NC_000012.12:g.47977421G>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1058His	rs774603840	missense variant	-	NC_000012.12:g.47977420C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1060Val	rs1487615511	missense variant	-	NC_000012.12:g.47977414T>A	gnomAD
COL2A1	P02458	p.Glu1060Lys	rs1402429703	missense variant	-	NC_000012.12:g.47977415C>T	gnomAD
COL2A1	P02458	p.Ala1063Val	rs978921089	missense variant	-	NC_000012.12:g.47977405G>A	TOPMed,gnomAD
COL2A1	P02458	p.Ala1063Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47977405G>T	NCI-TCGA
COL2A1	P02458	p.Val1064Met	rs763248048	missense variant	-	NC_000012.12:g.47977403C>T	ExAC,gnomAD
COL2A1	P02458	p.Val1064Leu	COSM693823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47977403C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly1065Val	VAR_017649	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Gly1068Glu	rs1555165195	missense variant	-	NC_000012.12:g.47977390C>T	-
COL2A1	P02458	p.Gly1068Glu	RCV000658381	missense variant	-	NC_000012.12:g.47977390C>T	ClinVar
COL2A1	P02458	p.Gly1068Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47977390C>A	NCI-TCGA
COL2A1	P02458	p.Ala1069Asp	rs746255869	missense variant	-	NC_000012.12:g.47977387G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala1069Thr	rs200112269	missense variant	-	NC_000012.12:g.47977388C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala1069Val	rs746255869	missense variant	-	NC_000012.12:g.47977387G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala1069Pro	rs200112269	missense variant	-	NC_000012.12:g.47977388C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala1069Pro	RCV000455425	missense variant	-	NC_000012.12:g.47977388C>G	ClinVar
COL2A1	P02458	p.Pro1070His	rs771447011	missense variant	-	NC_000012.12:g.47977384G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro1072His	rs1489240592	missense variant	-	NC_000012.12:g.47977378G>T	TOPMed,gnomAD
COL2A1	P02458	p.Pro1072Ala	rs955829877	missense variant	-	NC_000012.12:g.47977379G>C	TOPMed,gnomAD
COL2A1	P02458	p.Pro1072Ser	rs955829877	missense variant	-	NC_000012.12:g.47977379G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro1072Leu	rs1489240592	missense variant	-	NC_000012.12:g.47977378G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro1073Ser	COSM3461241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47977376G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly1074Ser	rs121912864	missense variant	-	NC_000012.12:g.47977373C>T	-
COL2A1	P02458	p.Gly1074Ser	RCV000018895	missense variant	Hypochondrogenesis	NC_000012.12:g.47977373C>T	ClinVar
COL2A1	P02458	p.Ser1075Tyr	rs777282659	missense variant	-	NC_000012.12:g.47977369G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro1076Leu	rs577184544	missense variant	-	NC_000012.12:g.47977366G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1077Val	rs786205477	missense variant	-	NC_000012.12:g.47977363C>A	-
COL2A1	P02458	p.Gly1077Asp	COSM5080747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47977363C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly1077Val	RCV000171212	missense variant	-	NC_000012.12:g.47977363C>A	ClinVar
COL2A1	P02458	p.Pro1078Leu	COSM3461239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47977360G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro1078Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47977361G>A	NCI-TCGA
COL2A1	P02458	p.Ala1079Thr	rs143363942	missense variant	-	NC_000012.12:g.47977358C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1081Leu	rs780101186	missense variant	-	NC_000012.12:g.47977351G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro1081Ser	rs753709490	missense variant	-	NC_000012.12:g.47977352G>A	ExAC,gnomAD
COL2A1	P02458	p.Thr1082Ala	rs886049446	missense variant	-	NC_000012.12:g.47977349T>C	TOPMed
COL2A1	P02458	p.Thr1082Ala	RCV000318331	missense variant	Type II Collagenopathies	NC_000012.12:g.47977349T>C	ClinVar
COL2A1	P02458	p.Thr1082Ala	RCV000263200	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47977349T>C	ClinVar
COL2A1	P02458	p.Lys1084Asn	rs756125516	missense variant	-	NC_000012.12:g.47977341C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp1087His	rs1354118542	missense variant	-	NC_000012.12:g.47977334C>G	gnomAD
COL2A1	P02458	p.Arg1088Ile	rs1334070401	missense variant	-	NC_000012.12:g.47977330C>A	gnomAD
COL2A1	P02458	p.Gly1089Arg	rs1555165183	missense variant	-	NC_000012.12:g.47977328C>T	-
COL2A1	P02458	p.Gly1089Arg	RCV000623740	missense variant	Inborn genetic diseases	NC_000012.12:g.47977328C>T	ClinVar
COL2A1	P02458	p.Glu1090Ter	COSM260224	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47977325C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Ala1091Thr	rs751632768	missense variant	-	NC_000012.12:g.47977322C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1092Asp	rs794727684	missense variant	-	NC_000012.12:g.47977154C>T	-
COL2A1	P02458	p.Gly1092Asp	RCV000178624	missense variant	-	NC_000012.12:g.47977154C>T	ClinVar
COL2A1	P02458	p.Ala1093Thr	rs1239956745	missense variant	-	NC_000012.12:g.47977152C>T	TOPMed,gnomAD
COL2A1	P02458	p.Gly1095Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47977145C>T	NCI-TCGA
COL2A1	P02458	p.Gly1095ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47977146_47977147insT	NCI-TCGA
COL2A1	P02458	p.Pro1096Leu	rs377708131	missense variant	-	NC_000012.12:g.47977142G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1096Ser	rs761070916	missense variant	-	NC_000012.12:g.47977143G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro1096His	rs377708131	missense variant	-	NC_000012.12:g.47977142G>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1096Ser	RCV000497777	missense variant	-	NC_000012.12:g.47977143G>A	ClinVar
COL2A1	P02458	p.Met1097Ile	rs1328945853	missense variant	-	NC_000012.12:g.47977138C>A	gnomAD
COL2A1	P02458	p.Met1097Leu	rs1375295610	missense variant	-	NC_000012.12:g.47977140T>A	gnomAD
COL2A1	P02458	p.Ser1100Leu	rs1322319171	missense variant	-	NC_000012.12:g.47977130G>A	gnomAD
COL2A1	P02458	p.Ser1100Ter	COSM3812096	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47977130G>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly1101Glu	rs1392877513	missense variant	-	NC_000012.12:g.47977127C>T	gnomAD
COL2A1	P02458	p.Gly1101Arg	rs864621973	missense variant	-	NC_000012.12:g.47977128C>T	gnomAD
COL2A1	P02458	p.Gly1101Ter	rs864621973	stop gained	-	NC_000012.12:g.47977128C>A	gnomAD
COL2A1	P02458	p.Gly1101Arg	RCV000205306	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47977128C>T	ClinVar
COL2A1	P02458	p.Pro1102Ser	rs1156746749	missense variant	-	NC_000012.12:g.47977125G>A	gnomAD
COL2A1	P02458	p.Pro1102Leu	rs772478856	missense variant	-	NC_000012.12:g.47977124G>A	ExAC,gnomAD
COL2A1	P02458	p.Ala1103Thr	rs1380718726	missense variant	-	NC_000012.12:g.47977122C>T	gnomAD
COL2A1	P02458	p.Ala1103Gly	rs1180226091	missense variant	-	NC_000012.12:g.47977121G>C	gnomAD
COL2A1	P02458	p.Gly1104Glu	rs886043356	missense variant	-	NC_000012.12:g.47977118C>T	-
COL2A1	P02458	p.Gly1104Glu	RCV000377732	missense variant	-	NC_000012.12:g.47977118C>T	ClinVar
COL2A1	P02458	p.Ala1105Thr	rs1246281486	missense variant	-	NC_000012.12:g.47977116C>T	gnomAD
COL2A1	P02458	p.Arg1106Gly	rs374036874	missense variant	-	NC_000012.12:g.47977113G>C	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1106Trp	rs374036874	missense variant	-	NC_000012.12:g.47977113G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1106Gln	rs1453392906	missense variant	-	NC_000012.12:g.47977112C>T	TOPMed,gnomAD
COL2A1	P02458	p.Gly1107Glu	rs544032562	missense variant	-	NC_000012.12:g.47977109C>T	1000Genomes,gnomAD
COL2A1	P02458	p.Gly1110Asp	COSM1361838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47976918C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly1110Cys	VAR_001759	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Gly1113Ser	rs1299951556	missense variant	-	NC_000012.12:g.47976910C>T	gnomAD
COL2A1	P02458	p.Gly1113Cys	VAR_001760	Missense	-	-	UniProt
COL2A1	P02458	p.Pro1114Ser	rs768002885	missense variant	-	NC_000012.12:g.47976907G>A	ExAC,gnomAD
COL2A1	P02458	p.Arg1115Lys	rs762238866	missense variant	-	NC_000012.12:g.47976903C>T	ExAC,gnomAD
COL2A1	P02458	p.Asp1117Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47976897T>A	NCI-TCGA
COL2A1	P02458	p.Lys1118Arg	rs774979011	missense variant	-	NC_000012.12:g.47976894T>C	ExAC,gnomAD
COL2A1	P02458	p.Lys1118Glu	rs1197777581	missense variant	-	NC_000012.12:g.47976895T>C	TOPMed
COL2A1	P02458	p.Gly1119Ter	RCV000627444	frameshift	-	NC_000012.12:g.47976892del	ClinVar
COL2A1	P02458	p.Gly1119Arg	VAR_017650	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Glu1120Asp	rs1426483203	missense variant	-	NC_000012.12:g.47976887C>G	gnomAD
COL2A1	P02458	p.Glu1120Lys	rs1170064048	missense variant	-	NC_000012.12:g.47976889C>T	gnomAD
COL2A1	P02458	p.Glu1120Ala	rs1478186152	missense variant	-	NC_000012.12:g.47976888T>G	gnomAD
COL2A1	P02458	p.Glu1120Ter	RCV000149457	frameshift	Stickler syndrome	NC_000012.12:g.47976889_47976890insAG	ClinVar
COL2A1	P02458	p.Glu1126Lys	rs762592219	missense variant	-	NC_000012.12:g.47976871C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1127Lys	rs775258061	missense variant	-	NC_000012.12:g.47976867C>T	ExAC,gnomAD
COL2A1	P02458	p.Gly1128Arg	rs886042612	missense variant	-	NC_000012.12:g.47976865C>G	-
COL2A1	P02458	p.Gly1128Arg	RCV000292504	missense variant	-	NC_000012.12:g.47976865C>G	ClinVar
COL2A1	P02458	p.Gly1131Glu	rs1317966614	missense variant	-	NC_000012.12:g.47976855C>T	gnomAD
COL2A1	P02458	p.Gly1131Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47976856C>T	NCI-TCGA
COL2A1	P02458	p.Arg1133His	rs776292672	missense variant	-	NC_000012.12:g.47976849C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Phe1135Leu	rs770820582	missense variant	-	NC_000012.12:g.47976842G>C	ExAC,gnomAD
COL2A1	P02458	p.Thr1136Ile	rs1378291308	missense variant	-	NC_000012.12:g.47976840G>A	gnomAD
COL2A1	P02458	p.Gly1137Ser	rs1284583459	missense variant	-	NC_000012.12:g.47976838C>T	gnomAD
COL2A1	P02458	p.Gln1139Ter	COSM939739	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47976832G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro1142Ser	rs1055360917	missense variant	-	NC_000012.12:g.47976823G>A	gnomAD
COL2A1	P02458	p.Pro1142His	rs1466253134	missense variant	-	NC_000012.12:g.47976822G>T	gnomAD
COL2A1	P02458	p.Gly1143Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47976819C>T	NCI-TCGA
COL2A1	P02458	p.Gly1143Ser	VAR_001761	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Pro1144Ser	rs1162709972	missense variant	-	NC_000012.12:g.47976817G>A	gnomAD
COL2A1	P02458	p.Pro1145Ser	rs1415072730	missense variant	-	NC_000012.12:g.47976814G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro1147Ala	rs139720910	missense variant	-	NC_000012.12:g.47976564G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1147Ser	rs139720910	missense variant	-	NC_000012.12:g.47976564G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp1150Tyr	rs757538350	missense variant	-	NC_000012.12:g.47976555C>A	ExAC,gnomAD
COL2A1	P02458	p.Asp1150Val	rs546666705	missense variant	-	NC_000012.12:g.47976554T>A	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Gln1151Arg	rs758975298	missense variant	-	NC_000012.12:g.47976551T>C	ExAC,gnomAD
COL2A1	P02458	p.Ala1153Thr	rs1295319338	missense variant	-	NC_000012.12:g.47976546C>T	gnomAD
COL2A1	P02458	p.Gly1158Arg	RCV000415337	missense variant	-	NC_000012.12:g.47976531C>G	ClinVar
COL2A1	P02458	p.Gly1158Arg	rs1057518911	missense variant	-	NC_000012.12:g.47976531C>G	-
COL2A1	P02458	p.Gly1158Ala	VAR_063898	Missense	Stickler syndrome 1 (STL1) [MIM:108300]	-	UniProt
COL2A1	P02458	p.Arg1163Gly	rs1398724480	missense variant	-	NC_000012.12:g.47976516T>C	gnomAD
COL2A1	P02458	p.Arg1163Thr	rs1360388194	missense variant	-	NC_000012.12:g.47976515C>G	TOPMed,gnomAD
COL2A1	P02458	p.Gly1164Asp	rs1476546104	missense variant	-	NC_000012.12:g.47976069C>T	gnomAD
COL2A1	P02458	p.Gly1164_Ala1199del	VAR_001762	inframe_deletion	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
COL2A1	P02458	p.Pro1165Leu	rs374156023	missense variant	-	NC_000012.12:g.47976066G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1165Leu	RCV000266329	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47976066G>A	ClinVar
COL2A1	P02458	p.Pro1165Leu	RCV000361437	missense variant	Type II Collagenopathies	NC_000012.12:g.47976066G>A	ClinVar
COL2A1	P02458	p.Gly1167Val	COSM693825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47976060C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Val1169Ile	rs760390497	missense variant	-	NC_000012.12:g.47976055C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Val1169Leu	rs760390497	missense variant	-	NC_000012.12:g.47976055C>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1170Ser	rs121912891	missense variant	-	NC_000012.12:g.47976052C>T	-
COL2A1	P02458	p.Gly1170Ser	rs121912891	missense variant	Legg-Calve-Perthes disease (LCPD)	NC_000012.12:g.47976052C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly1170Ser	VAR_023933	missense variant	Legg-Calve-Perthes disease (LCPD)	NC_000012.12:g.47976052C>T	UniProt
COL2A1	P02458	p.Gly1170Ser	RCV000018936	missense variant	Coxa plana (LCPD)	NC_000012.12:g.47976052C>T	ClinVar
COL2A1	P02458	p.Gly1170Ser	RCV000018935	missense variant	Avascular necrosis of the head of femur (ANFH1)	NC_000012.12:g.47976052C>T	ClinVar
COL2A1	P02458	p.Pro1171Ala	rs147750391	missense variant	-	NC_000012.12:g.47976049G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1171Ser	rs147750391	missense variant	-	NC_000012.12:g.47976049G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ser1172Pro	rs1306669510	missense variant	-	NC_000012.12:g.47976046A>G	gnomAD
COL2A1	P02458	p.Gly1173Arg	rs121912883	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47976043C>G	UniProt,dbSNP
COL2A1	P02458	p.Gly1173Arg	VAR_017651	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47976043C>G	UniProt
COL2A1	P02458	p.Gly1173Arg	rs121912883	missense variant	-	NC_000012.12:g.47976043C>G	-
COL2A1	P02458	p.Gly1173Arg	RCV000018924	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47976043C>G	ClinVar
COL2A1	P02458	p.Asp1175Val	rs1227656207	missense variant	-	NC_000012.12:g.47976036T>A	TOPMed
COL2A1	P02458	p.Gly1176Ser	VAR_001763	Missense	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
COL2A1	P02458	p.Gly1176Val	VAR_066836	Missense	-	-	UniProt
COL2A1	P02458	p.Gly1179Ter	COSM939737	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47976025C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly1179Arg	VAR_066837	Missense	-	-	UniProt
COL2A1	P02458	p.Gly1182Asp	COSM4841179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47976015C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Ile1184Thr	rs770997944	missense variant	-	NC_000012.12:g.47976009A>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ile1184insIleGlyProSerGlyLysAspGlyAlaAsnGlyIleProGlyProIle	VAR_019837	inframe_insertion	Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]	-	UniProt
COL2A1	P02458	p.Pro1186His	COSM939735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47976003G>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly1188Arg	VAR_001764	Missense	Achondrogenesis 2 (ACG2) [MIM:200610]	-	UniProt
COL2A1	P02458	p.Pro1189Ser	rs772546486	missense variant	-	NC_000012.12:g.47975995G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro1189Thr	rs772546486	missense variant	-	NC_000012.12:g.47975995G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro1189His	rs755010259	missense variant	-	NC_000012.12:g.47975994G>T	-
COL2A1	P02458	p.Pro1189His	RCV000445267	missense variant	-	NC_000012.12:g.47975994G>T	ClinVar
COL2A1	P02458	p.Arg1190His	rs748549541	missense variant	-	NC_000012.12:g.47975991C>T	ExAC,gnomAD
COL2A1	P02458	p.Arg1190Cys	rs1338267090	missense variant	-	NC_000012.12:g.47975992G>A	gnomAD
COL2A1	P02458	p.Arg1192Ter	rs886042651	stop gained	-	NC_000012.12:g.47975986G>A	-
COL2A1	P02458	p.Arg1192Gln	rs779252535	missense variant	-	NC_000012.12:g.47975985C>T	ExAC,gnomAD
COL2A1	P02458	p.Arg1192Ter	RCV000357221	nonsense	-	NC_000012.12:g.47975986G>A	ClinVar
COL2A1	P02458	p.Ser1193Leu	rs755514365	missense variant	-	NC_000012.12:g.47975982G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1195Lys	rs1186663188	missense variant	-	NC_000012.12:g.47975977C>T	gnomAD
COL2A1	P02458	p.Thr1196Ile	rs755689448	missense variant	-	NC_000012.12:g.47975973G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1197Ser	rs121912870	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47975971C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly1197Ser	VAR_001765	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47975971C>T	UniProt
COL2A1	P02458	p.Gly1197Ser	rs121912870	missense variant	-	NC_000012.12:g.47975971C>T	-
COL2A1	P02458	p.Gly1197Ser	RCV000018905	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47975971C>T	ClinVar
COL2A1	P02458	p.Ala1199Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47975964G>A	NCI-TCGA
COL2A1	P02458	p.Gly1200Val	rs1362154291	missense variant	-	NC_000012.12:g.47975604C>A	gnomAD
COL2A1	P02458	p.Pro1202Thr	rs1239785870	missense variant	-	NC_000012.12:g.47975599G>T	gnomAD
COL2A1	P02458	p.Gly1203Glu	COSM3461235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47975595C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Asn1204Ser	rs1352621170	missense variant	-	NC_000012.12:g.47975592T>C	gnomAD
COL2A1	P02458	p.Pro1205Leu	COSM3461233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47975589G>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro1207Thr	rs768961816	missense variant	-	NC_000012.12:g.47975584G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro1207Ser	rs768961816	missense variant	-	NC_000012.12:g.47975584G>A	ExAC,gnomAD
COL2A1	P02458	p.Pro1207_Gly1212del	VAR_001766	inframe_deletion	Kniest dysplasia (KD) [MIM:156550]	-	UniProt
COL2A1	P02458	p.Gly1209Val	rs1131692022	missense variant	-	NC_000012.12:g.47975577C>A	-
COL2A1	P02458	p.Gly1209Val	RCV000494173	missense variant	-	NC_000012.12:g.47975577C>A	ClinVar
COL2A1	P02458	p.Gly1209Ter	RCV000598983	frameshift	-	NC_000012.12:g.47975579del	ClinVar
COL2A1	P02458	p.Gly1212Ala	rs1555164786	missense variant	-	NC_000012.12:g.47975568C>G	-
COL2A1	P02458	p.Gly1212Ala	RCV000659404	missense variant	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47975568C>G	ClinVar
COL2A1	P02458	p.Pro1213Ser	rs886626700	missense variant	-	NC_000012.12:g.47975566G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro1214Ser	rs1315796331	missense variant	-	NC_000012.12:g.47975563G>A	TOPMed
COL2A1	P02458	p.Gly1215TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47975561_47975562insG	NCI-TCGA
COL2A1	P02458	p.Gly1215Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47975559C>A	NCI-TCGA
COL2A1	P02458	p.Gly1215Ala	rs775874428	missense variant	-	NC_000012.12:g.47975559C>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1215Ala	RCV000594099	missense variant	-	NC_000012.12:g.47975559C>G	ClinVar
COL2A1	P02458	p.Pro1216His	rs1418851351	missense variant	-	NC_000012.12:g.47975556G>T	gnomAD
COL2A1	P02458	p.Ile1218Val	rs374450416	missense variant	-	NC_000012.12:g.47975551T>C	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp1219Asn	rs760093841	missense variant	-	NC_000012.12:g.47975548C>T	ExAC,gnomAD
COL2A1	P02458	p.Asp1219Gly	rs751251798	missense variant	-	NC_000012.12:g.47975547T>C	ExAC,gnomAD
COL2A1	P02458	p.Asp1219His	rs760093841	missense variant	-	NC_000012.12:g.47975548C>G	ExAC,gnomAD
COL2A1	P02458	p.Asp1219Tyr	rs760093841	missense variant	-	NC_000012.12:g.47975548C>A	ExAC,gnomAD
COL2A1	P02458	p.Asp1219Tyr	RCV000429122	missense variant	-	NC_000012.12:g.47975548C>A	ClinVar
COL2A1	P02458	p.Asp1219His	RCV000515452	missense variant	Spondyloepiphyseal dysplasia, stanescu type (SEDSTN)	NC_000012.12:g.47975548C>G	ClinVar
COL2A1	P02458	p.Met1220Thr	rs886049445	missense variant	-	NC_000012.12:g.47975544A>G	gnomAD
COL2A1	P02458	p.Met1220Ile	rs758192023	missense variant	-	NC_000012.12:g.47975543C>T	ExAC,gnomAD
COL2A1	P02458	p.Met1220Thr	RCV000310097	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47975544A>G	ClinVar
COL2A1	P02458	p.Met1220Thr	RCV000364949	missense variant	Type II Collagenopathies	NC_000012.12:g.47975544A>G	ClinVar
COL2A1	P02458	p.Ala1222Thr	rs995646562	missense variant	-	NC_000012.12:g.47975539C>T	gnomAD
COL2A1	P02458	p.Gly1227Ser	rs1284572823	missense variant	-	NC_000012.12:g.47975524C>T	gnomAD
COL2A1	P02458	p.Pro1228Arg	rs371974287	missense variant	-	NC_000012.12:g.47975520G>C	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1228Leu	rs371974287	missense variant	-	NC_000012.12:g.47975520G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1228Ser	rs1204262041	missense variant	-	NC_000012.12:g.47975521G>A	TOPMed
COL2A1	P02458	p.Arg1229Ile	rs776705338	missense variant	-	NC_000012.12:g.47975517C>A	TOPMed,gnomAD
COL2A1	P02458	p.Arg1229Ser	rs1241940269	missense variant	-	NC_000012.12:g.47975516T>A	TOPMed
COL2A1	P02458	p.Arg1229Thr	rs776705338	missense variant	-	NC_000012.12:g.47975517C>G	TOPMed,gnomAD
COL2A1	P02458	p.Glu1230Lys	rs1223523741	missense variant	-	NC_000012.12:g.47975515C>T	gnomAD
COL2A1	P02458	p.Glu1230Asp	rs1347381176	missense variant	-	NC_000012.12:g.47975513C>G	gnomAD
COL2A1	P02458	p.Lys1231Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47975511T>C	NCI-TCGA
COL2A1	P02458	p.Gly1232Ser	rs1276202058	missense variant	-	NC_000012.12:g.47975509C>T	gnomAD
COL2A1	P02458	p.Asp1234Asn	rs1345598613	missense variant	-	NC_000012.12:g.47975503C>T	gnomAD
COL2A1	P02458	p.Asp1234Glu	rs891008017	missense variant	-	NC_000012.12:g.47975501G>T	TOPMed
COL2A1	P02458	p.Pro1235Thr	rs1319982290	missense variant	-	NC_000012.12:g.47975500G>T	gnomAD
COL2A1	P02458	p.Leu1236Pro	rs368270799	missense variant	-	NC_000012.12:g.47975496A>G	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Tyr1238Ser	rs199726428	missense variant	-	NC_000012.12:g.47975490T>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Met1239Leu	rs200136879	missense variant	-	NC_000012.12:g.47975488T>G	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Met1239Thr	rs1193540081	missense variant	-	NC_000012.12:g.47975487A>G	TOPMed,gnomAD
COL2A1	P02458	p.Met1239Val	rs200136879	missense variant	-	NC_000012.12:g.47975488T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Met1239Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47975486C>T	NCI-TCGA
COL2A1	P02458	p.Arg1240Gln	rs770482348	missense variant	-	NC_000012.12:g.47975484C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1240Leu	rs770482348	missense variant	-	NC_000012.12:g.47975484C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1240Trp	rs374082762	missense variant	-	NC_000012.12:g.47975485G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1240Trp	RCV000487637	missense variant	-	NC_000012.12:g.47975485G>A	ClinVar
COL2A1	P02458	p.Ala1241Val	rs746665798	missense variant	-	NC_000012.12:g.47975481G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala1241Ser	rs1208388893	missense variant	-	NC_000012.12:g.47975482C>A	gnomAD
COL2A1	P02458	p.Asp1242Asn	rs905184041	missense variant	-	NC_000012.12:g.47975479C>T	TOPMed
COL2A1	P02458	p.Ala1244Val	rs1203808169	missense variant	-	NC_000012.12:g.47975472G>A	gnomAD
COL2A1	P02458	p.Ala1244Ter	RCV000659406	frameshift	Stickler syndrome type 1 (STL1)	NC_000012.12:g.47975472del	ClinVar
COL2A1	P02458	p.Gly1246Ser	rs147569641	missense variant	-	NC_000012.12:g.47975467C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1246Ser	RCV000438916	missense variant	-	NC_000012.12:g.47975467C>T	ClinVar
COL2A1	P02458	p.His1251Gln	rs1271714738	missense variant	-	NC_000012.12:g.47975450A>T	gnomAD
COL2A1	P02458	p.Asp1252Glu	rs377079894	missense variant	-	NC_000012.12:g.47975447G>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp1252Asn	rs1261984786	missense variant	-	NC_000012.12:g.47975449C>T	TOPMed
COL2A1	P02458	p.Ala1253Thr	rs551400443	missense variant	-	NC_000012.12:g.47975446C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1254Val	rs149903770	missense variant	-	NC_000012.12:g.47975442T>A	ESP,ExAC,gnomAD
COL2A1	P02458	p.Glu1254Gln	rs373684149	missense variant	-	NC_000012.12:g.47975443C>G	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1254Lys	rs373684149	missense variant	-	NC_000012.12:g.47975443C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala1257Gly	rs1169999705	missense variant	-	NC_000012.12:g.47975433G>C	gnomAD
COL2A1	P02458	p.Thr1258Lys	rs1431107862	missense variant	-	NC_000012.12:g.47975430G>T	TOPMed
COL2A1	P02458	p.Ser1261Phe	rs370247812	missense variant	-	NC_000012.12:g.47975421G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asn1263Lys	rs1242187411	missense variant	-	NC_000012.12:g.47975414G>T	gnomAD
COL2A1	P02458	p.Asn1264Lys	rs1183855969	missense variant	-	NC_000012.12:g.47975411G>T	gnomAD
COL2A1	P02458	p.Asn1264Ter	RCV000179086	frameshift	-	NC_000012.12:g.47975411_47975414del	ClinVar
COL2A1	P02458	p.Gln1265His	rs770394385	missense variant	-	NC_000012.12:g.47975408C>A	ExAC,gnomAD
COL2A1	P02458	p.Ser1268Arg	rs374360275	missense variant	-	NC_000012.12:g.47975401T>G	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ser1268Gly	rs374360275	missense variant	-	NC_000012.12:g.47975401T>C	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ser1268Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47975400C>T	NCI-TCGA
COL2A1	P02458	p.Ile1269Thr	rs1197381768	missense variant	-	NC_000012.12:g.47975397A>G	TOPMed,gnomAD
COL2A1	P02458	p.Arg1270His	rs771631501	missense variant	-	NC_000012.12:g.47975394C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1270Cys	rs886049444	missense variant	-	NC_000012.12:g.47975395G>A	gnomAD
COL2A1	P02458	p.Arg1270Cys	RCV000334965	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47975395G>A	ClinVar
COL2A1	P02458	p.Arg1270Cys	RCV000279838	missense variant	Type II Collagenopathies	NC_000012.12:g.47975395G>A	ClinVar
COL2A1	P02458	p.Pro1272Ser	rs1226449887	missense variant	-	NC_000012.12:g.47975389G>A	TOPMed,gnomAD
COL2A1	P02458	p.Pro1272Thr	COSM6072576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47975389G>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Pro1272His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47975388G>T	NCI-TCGA
COL2A1	P02458	p.Glu1273Lys	rs778838205	missense variant	-	NC_000012.12:g.47975386C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1274Arg	rs201635345	missense variant	-	NC_000012.12:g.47975383C>G	1000Genomes
COL2A1	P02458	p.Arg1276His	rs142168567	missense variant	-	NC_000012.12:g.47975376C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1276Cys	rs369672046	missense variant	-	NC_000012.12:g.47975377G>A	ESP,ExAC,gnomAD
COL2A1	P02458	p.Arg1276Gly	rs369672046	missense variant	-	NC_000012.12:g.47975377G>C	ESP,ExAC,gnomAD
COL2A1	P02458	p.Arg1276Leu	rs142168567	missense variant	-	NC_000012.12:g.47975376C>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1279Ser	rs898197715	missense variant	-	NC_000012.12:g.47975368G>A	TOPMed
COL2A1	P02458	p.Arg1281His	rs763097721	missense variant	-	NC_000012.12:g.47975361C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1281Cys	rs764309847	missense variant	-	NC_000012.12:g.47975362G>A	ExAC,gnomAD
COL2A1	P02458	p.Arg1281His	RCV000366271	missense variant	-	NC_000012.12:g.47975361C>T	ClinVar
COL2A1	P02458	p.Arg1284Lys	rs765581527	missense variant	-	NC_000012.12:g.47975352C>T	ExAC,gnomAD
COL2A1	P02458	p.Asp1285Glu	rs1006482371	missense variant	-	NC_000012.12:g.47975348G>T	TOPMed,gnomAD
COL2A1	P02458	p.Pro1291Ser	rs777098611	missense variant	-	NC_000012.12:g.47975332G>A	ExAC,gnomAD
COL2A1	P02458	p.Glu1292Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47975329C>T	NCI-TCGA
COL2A1	P02458	p.Glu1292Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47975329C>G	NCI-TCGA
COL2A1	P02458	p.Trp1293Ter	rs1555164672	stop gained	-	NC_000012.12:g.47975324C>T	-
COL2A1	P02458	p.Trp1293Ter	RCV000624506	nonsense	Inborn genetic diseases	NC_000012.12:g.47975324C>T	ClinVar
COL2A1	P02458	p.Gly1296Ala	rs1299283833	missense variant	-	NC_000012.12:g.47974862C>G	gnomAD
COL2A1	P02458	p.Gly1296Arg	rs546672421	missense variant	-	NC_000012.12:g.47975317C>G	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Gly1296Arg	RCV000385344	missense variant	-	NC_000012.12:g.47975317C>G	ClinVar
COL2A1	P02458	p.Asp1297Asn	rs761073811	missense variant	-	NC_000012.12:g.47974860C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Tyr1298His	rs1034850489	missense variant	-	NC_000012.12:g.47974857A>G	TOPMed
COL2A1	P02458	p.Trp1299Ter	COSM3461231	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.47974853C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Ile1300Val	rs556788032	missense variant	-	NC_000012.12:g.47974851T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gln1304Arg	COSM939733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974838T>C	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly1305Ala	rs121912887	missense variant	-	NC_000012.12:g.47974835C>G	gnomAD
COL2A1	P02458	p.Gly1305Asp	rs121912887	missense variant	-	NC_000012.12:g.47974835C>T	gnomAD
COL2A1	P02458	p.Gly1305Asp	rs121912887	missense variant	-	NC_000012.12:g.47974835C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly1305Asp	VAR_023934	missense variant	-	NC_000012.12:g.47974835C>T	UniProt
COL2A1	P02458	p.Gly1305Asp	RCV000018930	missense variant	Vitreoretinopathy with phalangeal epiphyseal dysplasia	NC_000012.12:g.47974835C>T	ClinVar
COL2A1	P02458	p.Thr1307Asn	rs761461081	missense variant	-	NC_000012.12:g.47974829G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr1307Ile	rs761461081	missense variant	-	NC_000012.12:g.47974829G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp1309Asn	COSM3461229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974824C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Ala1310Thr	rs768451951	missense variant	-	NC_000012.12:g.47974821C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ala1310Gly	COSM693827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974820G>C	NCI-TCGA Cosmic
COL2A1	P02458	p.Ala1310Ser	rs768451951	missense variant	-	NC_000012.12:g.47974821C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Met1311Val	rs200005378	missense variant	-	NC_000012.12:g.47974818T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Met1311Leu	rs200005378	missense variant	-	NC_000012.12:g.47974818T>A	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Lys1312Ter	rs146035198	stop gained	-	NC_000012.12:g.47974815T>A	ESP,TOPMed
COL2A1	P02458	p.Lys1312Asn	rs745788222	missense variant	-	NC_000012.12:g.47974813C>A	ExAC,gnomAD
COL2A1	P02458	p.Val1313Ile	COSM5929389	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974812C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Val1313Ala	COSM939731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974811A>G	NCI-TCGA Cosmic
COL2A1	P02458	p.Cys1315Gly	rs527236144	missense variant	-	NC_000012.12:g.47974806A>C	-
COL2A1	P02458	p.Cys1315Gly	RCV000190277	missense variant	Platyspondylic lethal skeletal dysplasia Torrance type (PLSDT)	NC_000012.12:g.47974806A>C	ClinVar
COL2A1	P02458	p.Met1317Val	rs1201540358	missense variant	-	NC_000012.12:g.47974800T>C	TOPMed,gnomAD
COL2A1	P02458	p.Glu1318Lys	rs781229123	missense variant	-	NC_000012.12:g.47974797C>T	ExAC,gnomAD
COL2A1	P02458	p.Glu1318Lys	RCV000727461	missense variant	-	NC_000012.12:g.47974797C>T	ClinVar
COL2A1	P02458	p.Thr1319Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47974793G>C	NCI-TCGA
COL2A1	P02458	p.Glu1321Lys	rs748248022	missense variant	-	NC_000012.12:g.47974788C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1321Lys	RCV000345266	missense variant	-	NC_000012.12:g.47974788C>T	ClinVar
COL2A1	P02458	p.Cys1323Phe	COSM4042161	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974781C>A	NCI-TCGA Cosmic
COL2A1	P02458	p.Val1324Ile	rs755207565	missense variant	-	NC_000012.12:g.47974779C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Tyr1325Cys	rs754118463	missense variant	-	NC_000012.12:g.47974775T>C	ExAC,gnomAD
COL2A1	P02458	p.Pro1326His	rs766648807	missense variant	-	NC_000012.12:g.47974772G>T	ExAC,gnomAD
COL2A1	P02458	p.Pro1326Ser	rs1254282445	missense variant	-	NC_000012.12:g.47974773G>A	TOPMed
COL2A1	P02458	p.Asn1327Ser	rs1265043208	missense variant	-	NC_000012.12:g.47974769T>C	TOPMed,gnomAD
COL2A1	P02458	p.Pro1328Leu	rs1217363397	missense variant	-	NC_000012.12:g.47974766G>A	gnomAD
COL2A1	P02458	p.Pro1328Arg	rs1217363397	missense variant	-	NC_000012.12:g.47974766G>C	gnomAD
COL2A1	P02458	p.Ala1329Val	rs1326301441	missense variant	-	NC_000012.12:g.47974763G>A	gnomAD
COL2A1	P02458	p.Val1331Ile	rs12721427	missense variant	-	NC_000012.12:g.47974758C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Val1331Ile	RCV000250399	missense variant	-	NC_000012.12:g.47974758C>T	ClinVar
COL2A1	P02458	p.Asn1335Ser	rs1468872205	missense variant	-	NC_000012.12:g.47974745T>C	gnomAD
COL2A1	P02458	p.Trp1336Ter	RCV000760586	nonsense	-	NC_000012.12:g.47974741C>T	ClinVar
COL2A1	P02458	p.Lys1340Asn	rs763777663	missense variant	-	NC_000012.12:g.47974729C>G	ExAC,gnomAD
COL2A1	P02458	p.Lys1340Glu	rs927945133	missense variant	-	NC_000012.12:g.47974731T>C	TOPMed
COL2A1	P02458	p.Lys1340Arg	rs200488859	missense variant	-	NC_000012.12:g.47974730T>C	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Lys1342Glu	rs1480368696	missense variant	-	NC_000012.12:g.47974725T>C	TOPMed
COL2A1	P02458	p.Glu1343Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47974720C>G	NCI-TCGA
COL2A1	P02458	p.Lys1345Glu	rs1173383933	missense variant	-	NC_000012.12:g.47974716T>C	TOPMed
COL2A1	P02458	p.Lys1345Thr	rs775279845	missense variant	-	NC_000012.12:g.47974715T>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1351Lys	rs1400106095	missense variant	-	NC_000012.12:g.47974698C>T	-
COL2A1	P02458	p.Glu1351Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.47974698C>A	NCI-TCGA
COL2A1	P02458	p.Thr1352Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47974695T>C	NCI-TCGA
COL2A1	P02458	p.Ile1353Val	COSM693829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974692T>C	NCI-TCGA Cosmic
COL2A1	P02458	p.Asn1354Ile	rs200621622	missense variant	-	NC_000012.12:g.47974688T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asn1354Ser	rs200621622	missense variant	-	NC_000012.12:g.47974688T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1355Asp	rs201646745	missense variant	-	NC_000012.12:g.47974685C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1355Asp	RCV000079727	missense variant	-	NC_000012.12:g.47974685C>T	ClinVar
COL2A1	P02458	p.Gly1355Asp	RCV000378068	missense variant	Type II Collagenopathies	NC_000012.12:g.47974685C>T	ClinVar
COL2A1	P02458	p.Gly1355Asp	RCV000283561	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47974685C>T	ClinVar
COL2A1	P02458	p.His1358Arg	rs749485192	missense variant	-	NC_000012.12:g.47974676T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Tyr1361Cys	rs1363571034	missense variant	-	NC_000012.12:g.47974324T>C	gnomAD
COL2A1	P02458	p.Gly1362Glu	COSM4398367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974321C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Asp1363Gly	rs764741063	missense variant	-	NC_000012.12:g.47974318T>C	ExAC,gnomAD
COL2A1	P02458	p.Asp1364Glu	rs766131966	missense variant	-	NC_000012.12:g.47974314G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asp1364Asn	rs374577959	missense variant	-	NC_000012.12:g.47974316C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asn1365Tyr	rs202105427	missense variant	-	NC_000012.12:g.47974313T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asn1365Ser	rs773088354	missense variant	-	NC_000012.12:g.47974312T>C	ExAC,gnomAD
COL2A1	P02458	p.Asn1365Ile	rs773088354	missense variant	-	NC_000012.12:g.47974312T>A	ExAC,gnomAD
COL2A1	P02458	p.Ala1367Pro	rs762876704	missense variant	-	NC_000012.12:g.47974307C>G	ExAC,gnomAD
COL2A1	P02458	p.Ala1367Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47974307C>A	NCI-TCGA
COL2A1	P02458	p.Pro1368Ser	rs775650170	missense variant	-	NC_000012.12:g.47974304G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1368Leu	rs149375186	missense variant	-	NC_000012.12:g.47974303G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr1370Ile	rs777030211	missense variant	-	NC_000012.12:g.47974297G>A	ExAC,gnomAD
COL2A1	P02458	p.Ala1371Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47974294G>A	NCI-TCGA
COL2A1	P02458	p.Asn1372Ser	rs771399441	missense variant	-	NC_000012.12:g.47974291T>C	ExAC,gnomAD
COL2A1	P02458	p.Val1373Ile	rs778382364	missense variant	-	NC_000012.12:g.47974289C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Val1373Ile	RCV000357617	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47974289C>T	ClinVar
COL2A1	P02458	p.Val1373Ile	RCV000272004	missense variant	Type II Collagenopathies	NC_000012.12:g.47974289C>T	ClinVar
COL2A1	P02458	p.Thr1376Ser	rs1405375600	missense variant	-	NC_000012.12:g.47974279G>C	TOPMed,gnomAD
COL2A1	P02458	p.Thr1376Asn	rs1405375600	missense variant	-	NC_000012.12:g.47974279G>T	TOPMed,gnomAD
COL2A1	P02458	p.Thr1376Ile	rs1405375600	missense variant	-	NC_000012.12:g.47974279G>A	TOPMed,gnomAD
COL2A1	P02458	p.Phe1377Leu	rs144742519	missense variant	-	NC_000012.12:g.47974275G>C	ExAC,gnomAD
COL2A1	P02458	p.Leu1378Ile	COSM939729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974274G>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Arg1379Cys	rs141951587	missense variant	-	NC_000012.12:g.47974271G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1379Cys	RCV000520302	missense variant	-	NC_000012.12:g.47974271G>A	ClinVar
COL2A1	P02458	p.Arg1379His	rs754487319	missense variant	-	NC_000012.12:g.47974270C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1379Ser	rs141951587	missense variant	-	NC_000012.12:g.47974271G>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr1383Met	rs138498898	missense variant	-	NC_000012.12:g.47974258G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr1383Met	RCV000022484	missense variant	Avascular necrosis of the head of femur (ANFH1)	NC_000012.12:g.47974258G>A	ClinVar
COL2A1	P02458	p.Glu1384Lys	rs1200816320	missense variant	-	NC_000012.12:g.47974256C>T	gnomAD
COL2A1	P02458	p.Gly1385Asp	rs767382058	missense variant	-	NC_000012.12:g.47974252C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1385Ala	rs767382058	missense variant	-	NC_000012.12:g.47974252C>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asn1388Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47974242G>C	NCI-TCGA
COL2A1	P02458	p.Thr1390Ile	rs1161207534	missense variant	-	NC_000012.12:g.47974237G>A	TOPMed,gnomAD
COL2A1	P02458	p.Thr1390Asn	VAR_024822	Missense	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt
COL2A1	P02458	p.Tyr1391Cys	rs121912889	missense variant	-	NC_000012.12:g.47974234T>C	-
COL2A1	P02458	p.Tyr1391Cys	rs121912889	missense variant	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)	NC_000012.12:g.47974234T>C	UniProt,dbSNP
COL2A1	P02458	p.Tyr1391Cys	VAR_023935	missense variant	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)	NC_000012.12:g.47974234T>C	UniProt
COL2A1	P02458	p.Tyr1391Cys	RCV000022482	missense variant	Spondyloperipheral dysplasia	NC_000012.12:g.47974234T>C	ClinVar
COL2A1	P02458	p.Tyr1391Cys	RCV000018931	missense variant	Platyspondylic lethal skeletal dysplasia Torrance type (PLSDT)	NC_000012.12:g.47974234T>C	ClinVar
COL2A1	P02458	p.Asn1395Ser	rs1446139943	missense variant	-	NC_000012.12:g.47974222T>C	gnomAD
COL2A1	P02458	p.Ser1396Asn	COSM939727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974219C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Ala1398Val	rs774218205	missense variant	-	NC_000012.12:g.47974213G>A	ExAC,gnomAD
COL2A1	P02458	p.Tyr1399Ter	RCV000596206	frameshift	-	NC_000012.12:g.47974201_47974211delinsGGCAATGCT	ClinVar
COL2A1	P02458	p.Glu1402Lys	rs759583931	missense variant	-	NC_000012.12:g.47974202C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1405Ser	RCV000247508	missense variant	-	NC_000012.12:g.47974193C>T	ClinVar
COL2A1	P02458	p.Gly1405Ser	rs2070739	missense variant	-	NC_000012.12:g.47974193C>T	UniProt,dbSNP
COL2A1	P02458	p.Gly1405Ser	VAR_033785	missense variant	-	NC_000012.12:g.47974193C>T	UniProt
COL2A1	P02458	p.Gly1405Ser	rs2070739	missense variant	-	NC_000012.12:g.47974193C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Lys1408Arg	COSM4042159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974183T>C	NCI-TCGA Cosmic
COL2A1	P02458	p.Ala1410Thr	rs1057524467	missense variant	-	NC_000012.12:g.47974178C>T	-
COL2A1	P02458	p.Ala1410Thr	RCV000436848	missense variant	-	NC_000012.12:g.47974178C>T	ClinVar
COL2A1	P02458	p.Leu1411Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47974174A>G	NCI-TCGA
COL2A1	P02458	p.Leu1412His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47974171A>T	NCI-TCGA
COL2A1	P02458	p.Gln1414Arg	rs1327296939	missense variant	-	NC_000012.12:g.47974165T>C	gnomAD
COL2A1	P02458	p.Ser1416Phe	rs557405437	missense variant	-	NC_000012.12:g.47974159G>A	1000Genomes,ExAC,gnomAD
COL2A1	P02458	p.Asn1417Ser	rs537186508	missense variant	-	NC_000012.12:g.47974156T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Asn1417Ser	RCV000354121	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47974156T>C	ClinVar
COL2A1	P02458	p.Asn1417Ser	RCV000315540	missense variant	Type II Collagenopathies	NC_000012.12:g.47974156T>C	ClinVar
COL2A1	P02458	p.Asn1417Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47974157T>A	NCI-TCGA
COL2A1	P02458	p.Asp1418Asn	rs1419285230	missense variant	-	NC_000012.12:g.47974154C>T	TOPMed
COL2A1	P02458	p.Val1419Ala	rs1308668773	missense variant	-	NC_000012.12:g.47974150A>G	gnomAD
COL2A1	P02458	p.Val1419Met	rs371226850	missense variant	-	NC_000012.12:g.47974151C>T	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1420Ala	rs1471246746	missense variant	-	NC_000012.12:g.47974147T>G	gnomAD
COL2A1	P02458	p.Ile1421Thr	COSM4042157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47974144A>G	NCI-TCGA Cosmic
COL2A1	P02458	p.Arg1422Gln	rs745349011	missense variant	-	NC_000012.12:g.47974141C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1422Trp	rs754466377	missense variant	-	NC_000012.12:g.47974142G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1422Leu	rs745349011	missense variant	-	NC_000012.12:g.47974141C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1422Trp	RCV000396722	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47974142G>A	ClinVar
COL2A1	P02458	p.Arg1422Gln	RCV000422902	missense variant	-	NC_000012.12:g.47974141C>T	ClinVar
COL2A1	P02458	p.Arg1422Trp	RCV000350564	missense variant	Type II Collagenopathies	NC_000012.12:g.47974142G>A	ClinVar
COL2A1	P02458	p.Ala1423Thr	rs1475935660	missense variant	-	NC_000012.12:g.47974139C>T	gnomAD
COL2A1	P02458	p.Gly1425Ala	rs989110731	missense variant	-	NC_000012.12:g.47974132C>G	TOPMed
COL2A1	P02458	p.Ser1427Arg	rs1309298067	missense variant	-	NC_000012.12:g.47974125G>T	TOPMed
COL2A1	P02458	p.Ser1427Asn	rs755779435	missense variant	-	NC_000012.12:g.47974126C>T	ExAC,gnomAD
COL2A1	P02458	p.Thr1430Met	rs147559634	missense variant	-	NC_000012.12:g.47974117G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr1432Ala	rs1237429313	missense variant	-	NC_000012.12:g.47974112T>C	TOPMed
COL2A1	P02458	p.Lys1435Glu	rs1293471595	missense variant	-	NC_000012.12:g.47974103T>C	TOPMed
COL2A1	P02458	p.Asp1436Asn	RCV000179119	missense variant	-	NC_000012.12:g.47974100C>T	ClinVar
COL2A1	P02458	p.Asp1436Asn	rs794727757	missense variant	-	NC_000012.12:g.47974100C>T	-
COL2A1	P02458	p.Cys1438Ter	rs121912890	stop gained	-	NC_000012.12:g.47974092G>T	-
COL2A1	P02458	p.Cys1438Ter	RCV000018934	nonsense	Spondyloperipheral dysplasia	NC_000012.12:g.47974092G>T	ClinVar
COL2A1	P02458	p.Cys1438AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47974095G>-	NCI-TCGA
COL2A1	P02458	p.Thr1439Lys	rs121912886	missense variant	-	NC_000012.12:g.47974090G>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr1439Met	rs121912886	missense variant	-	NC_000012.12:g.47974090G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr1439Met	RCV000190574	missense variant	Spondyloperipheral dysplasia	NC_000012.12:g.47974090G>A	ClinVar
COL2A1	P02458	p.Thr1439Met	rs121912886	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47974090G>A	UniProt,dbSNP
COL2A1	P02458	p.Thr1439Met	VAR_017105	missense variant	Spondyloepiphyseal dysplasia congenital type (SEDC)	NC_000012.12:g.47974090G>A	UniProt
COL2A1	P02458	p.Lys1440Asn	rs766537396	missense variant	-	NC_000012.12:g.47973551T>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Thr1442Ile	rs750624540	missense variant	-	NC_000012.12:g.47973546G>A	ExAC,gnomAD
COL2A1	P02458	p.Gly1443Ser	rs78690642	missense variant	-	NC_000012.12:g.47973544C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1443Ser	RCV000597223	missense variant	-	NC_000012.12:g.47973544C>T	ClinVar
COL2A1	P02458	p.Gly1443Ter	RCV000597827	frameshift	-	NC_000012.12:g.47973544del	ClinVar
COL2A1	P02458	p.Gly1446Ter	RCV000018933	frameshift	Spondyloperipheral dysplasia	NC_000012.12:g.47973537del	ClinVar
COL2A1	P02458	p.Gly1446Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47973534C>T	NCI-TCGA
COL2A1	P02458	p.Lys1447Arg	rs1443585376	missense variant	-	NC_000012.12:g.47973531T>C	gnomAD
COL2A1	P02458	p.Thr1448Ser	rs1481212897	missense variant	-	NC_000012.12:g.47973528G>C	TOPMed,gnomAD
COL2A1	P02458	p.Thr1448Pro	VAR_024823	Missense	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt
COL2A1	P02458	p.Ile1450Phe	rs113238468	missense variant	-	NC_000012.12:g.47973523T>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Ile1450Val	rs113238468	missense variant	-	NC_000012.12:g.47973523T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1451Lys	rs776015253	missense variant	-	NC_000012.12:g.47973520C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1451Gly	rs769267684	missense variant	-	NC_000012.12:g.47973519T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Tyr1452Cys	rs745401764	missense variant	-	NC_000012.12:g.47973516T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1453Trp	rs776306214	missense variant	-	NC_000012.12:g.47973514G>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1453Gln	rs770494878	missense variant	-	NC_000012.12:g.47973513C>T	ExAC,gnomAD
COL2A1	P02458	p.Gln1455Arg	rs1001705800	missense variant	-	NC_000012.12:g.47973507T>C	TOPMed
COL2A1	P02458	p.Gln1455Ter	rs1555164217	stop gained	-	NC_000012.12:g.47973508G>A	-
COL2A1	P02458	p.Gln1455Ter	RCV000522004	nonsense	-	NC_000012.12:g.47973508G>A	ClinVar
COL2A1	P02458	p.Arg1459His	rs777416478	missense variant	-	NC_000012.12:g.47973495C>T	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1459Cys	rs148838496	missense variant	-	NC_000012.12:g.47973496G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Arg1459Cys	rs148838496	missense variant	-	NC_000012.12:g.47973496G>A	UniProt,dbSNP
COL2A1	P02458	p.Arg1459Cys	VAR_079748	missense variant	-	NC_000012.12:g.47973496G>A	UniProt
COL2A1	P02458	p.Arg1459Cys	RCV000402928	missense variant	Type II Collagenopathies	NC_000012.12:g.47973496G>A	ClinVar
COL2A1	P02458	p.Arg1459Cys	RCV000312017	missense variant	Stickler Syndrome, Dominant	NC_000012.12:g.47973496G>A	ClinVar
COL2A1	P02458	p.Pro1461Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47973490G>T	NCI-TCGA
COL2A1	P02458	p.Ile1463Val	rs1490116358	missense variant	-	NC_000012.12:g.47973484T>C	gnomAD
COL2A1	P02458	p.Ile1463Met	rs1224083058	missense variant	-	NC_000012.12:g.47973482A>C	TOPMed,gnomAD
COL2A1	P02458	p.Ile1463Thr	rs748077700	missense variant	-	NC_000012.12:g.47973483A>G	ExAC,gnomAD
COL2A1	P02458	p.Pro1467Ser	rs779016210	missense variant	-	NC_000012.12:g.47973472G>A	ExAC,gnomAD
COL2A1	P02458	p.Asp1469His	VAR_024824	Missense	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt
COL2A1	P02458	p.Ile1470Val	rs767724615	missense variant	-	NC_000012.12:g.47973463T>C	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1471Arg	rs1281892244	missense variant	-	NC_000012.12:g.47973460C>G	gnomAD
COL2A1	P02458	p.Gly1471Arg	COSM3461223	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.47973460C>T	NCI-TCGA Cosmic
COL2A1	P02458	p.Gly1472Glu	rs773418634	missense variant	-	NC_000012.12:g.47973456C>T	-
COL2A1	P02458	p.Gly1472Arg	rs763352763	missense variant	-	NC_000012.12:g.47973457C>G	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1472Trp	rs763352763	missense variant	-	NC_000012.12:g.47973457C>A	ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1472Arg	RCV000179142	missense variant	-	NC_000012.12:g.47973457C>G	ClinVar
COL2A1	P02458	p.Pro1473Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.47973454G>C	NCI-TCGA
COL2A1	P02458	p.Pro1473GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.47973453_47973454insACTTTTCT	NCI-TCGA
COL2A1	P02458	p.Glu1474Asp	rs369696920	missense variant	-	NC_000012.12:g.47973449C>G	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1474Gln	rs540750398	missense variant	-	NC_000012.12:g.47973451C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Glu1474Lys	rs540750398	missense variant	-	NC_000012.12:g.47973451C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Gly1478Ser	rs1400762548	missense variant	-	NC_000012.12:g.47973439C>T	TOPMed,gnomAD
COL2A1	P02458	p.Val1479Ala	rs1414146646	missense variant	-	NC_000012.12:g.47973435A>G	gnomAD
COL2A1	P02458	p.Asp1480Asn	rs772969125	missense variant	-	NC_000012.12:g.47973433C>T	ExAC,gnomAD
COL2A1	P02458	p.Pro1483Leu	rs376442872	missense variant	-	NC_000012.12:g.47973423G>A	ESP,ExAC,TOPMed,gnomAD
COL2A1	P02458	p.Pro1483Ala	rs1406745245	missense variant	-	NC_000012.12:g.47973424G>C	TOPMed,gnomAD
COL2A1	P02458	p.Pro1483Ter	RCV000179141	frameshift	-	NC_000012.12:g.47973423_47973426del	ClinVar
COL2A1	P02458	p.Val1484del	VAR_024825	inframe_deletion	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt
COL2A1	P02458	p.Cys1485Arg	RCV000853298	missense variant	Spondyloepiphyseal dysplasia (SEDC)	NC_000012.12:g.47973418A>G	ClinVar
COL2A1	P02458	p.Cys1485Arg	RCV000733654	missense variant	-	NC_000012.12:g.47973418A>G	ClinVar
COL2A1	P02458	p.Cys1485Gly	VAR_024826	Missense	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]	-	UniProt
RBP4	P02753	p.Lys2Asn	rs1223394124	missense variant	-	NC_000010.11:g.93601023C>G	gnomAD
RBP4	P02753	p.Val4Met	rs759490328	missense variant	-	NC_000010.11:g.93601019C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val4Leu	rs759490328	missense variant	-	NC_000010.11:g.93601019C>G	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Trp5Arg	rs1213587529	missense variant	-	NC_000010.11:g.93601016A>G	gnomAD
RBP4	P02753	p.Ala6Val	rs774496890	missense variant	-	NC_000010.11:g.93601012G>A	ExAC,gnomAD
RBP4	P02753	p.Ala6Val	RCV000175830	missense variant	-	NC_000010.11:g.93601012G>A	ClinVar
RBP4	P02753	p.Ala6Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.93601013C>T	NCI-TCGA
RBP4	P02753	p.Leu7Phe	rs974187494	missense variant	-	NC_000010.11:g.93601010G>A	TOPMed
RBP4	P02753	p.Leu8Phe	rs11546956	missense variant	-	NC_000010.11:g.93601005C>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Leu8Phe	RCV000596945	missense variant	-	NC_000010.11:g.93601005C>A	ClinVar
RBP4	P02753	p.Leu9Gln	rs529161250	missense variant	-	NC_000010.11:g.93601003A>T	1000Genomes,ExAC,gnomAD
RBP4	P02753	p.Leu9Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.93601003A>C	NCI-TCGA
RBP4	P02753	p.Ala11Val	rs1287578767	missense variant	-	NC_000010.11:g.93600997G>A	gnomAD
RBP4	P02753	p.Gly14Asp	rs560465876	missense variant	-	NC_000010.11:g.93600988C>T	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ser15Gly	rs758073926	missense variant	-	NC_000010.11:g.93600986T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ser15Gly	RCV000303109	missense variant	-	NC_000010.11:g.93600986T>C	ClinVar
RBP4	P02753	p.Arg17Leu	rs971623953	missense variant	-	NC_000010.11:g.93600979C>A	TOPMed
RBP4	P02753	p.Ala18Ser	rs1185115684	missense variant	-	NC_000010.11:g.93600977C>A	gnomAD
RBP4	P02753	p.Glu19Gln	rs1218547712	missense variant	-	NC_000010.11:g.93600974C>G	TOPMed
RBP4	P02753	p.Cys22Ter	rs1023148051	stop gained	-	NC_000010.11:g.93600963G>T	TOPMed
RBP4	P02753	p.Arg23Gly	rs1259782555	missense variant	-	NC_000010.11:g.93600962G>C	TOPMed,gnomAD
RBP4	P02753	p.Arg23Ter	rs1259782555	stop gained	-	NC_000010.11:g.93600962G>A	TOPMed,gnomAD
RBP4	P02753	p.Arg23Pro	rs756894160	missense variant	-	NC_000010.11:g.93600961C>G	ExAC,gnomAD
RBP4	P02753	p.Val24Leu	rs753792133	missense variant	-	NC_000010.11:g.93600959C>G	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val24Met	rs753792133	missense variant	-	NC_000010.11:g.93600959C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val24Ala	COSM5168325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.93600958A>G	NCI-TCGA Cosmic
RBP4	P02753	p.Ser25Asn	rs755814837	missense variant	-	NC_000010.11:g.93600955C>T	ExAC,gnomAD
RBP4	P02753	p.Ser26Gly	rs1273383655	missense variant	-	NC_000010.11:g.93600953T>C	TOPMed
RBP4	P02753	p.Arg28Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.93600946C>T	NCI-TCGA
RBP4	P02753	p.Lys30Arg	rs1262010191	missense variant	-	NC_000010.11:g.93600940T>C	gnomAD
RBP4	P02753	p.Lys30Glu	rs1325307676	missense variant	-	NC_000010.11:g.93600941T>C	gnomAD
RBP4	P02753	p.Glu31Gln	rs752565532	missense variant	-	NC_000010.11:g.93600938C>G	ExAC
RBP4	P02753	p.Glu31Val	rs1292870418	missense variant	-	NC_000010.11:g.93600937T>A	gnomAD
RBP4	P02753	p.Glu31Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.93600938C>T	NCI-TCGA
RBP4	P02753	p.Asn32Asp	rs887978696	missense variant	-	NC_000010.11:g.93600935T>C	TOPMed
RBP4	P02753	p.Phe33Leu	rs1384395427	missense variant	-	NC_000010.11:g.93600932A>G	gnomAD
RBP4	P02753	p.Arg37His	rs1049674420	missense variant	-	NC_000010.11:g.93600919C>T	TOPMed
RBP4	P02753	p.Arg37Gly	rs759820276	missense variant	-	NC_000010.11:g.93600920G>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Phe38Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.93600803A>C	NCI-TCGA
RBP4	P02753	p.Ser39Pro	rs1331074048	missense variant	-	NC_000010.11:g.93600800A>G	gnomAD
RBP4	P02753	p.Gly40Glu	rs760990155	missense variant	-	NC_000010.11:g.93600796C>T	ExAC,gnomAD
RBP4	P02753	p.Thr41Ile	rs367834906	missense variant	-	NC_000010.11:g.93600793G>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ala44Val	rs1367448735	missense variant	-	NC_000010.11:g.93600784G>A	gnomAD
RBP4	P02753	p.Ala44Ser	rs748737715	missense variant	-	NC_000010.11:g.93600785C>A	ExAC,gnomAD
RBP4	P02753	p.Met45Leu	rs1163778506	missense variant	-	NC_000010.11:g.93600782T>G	TOPMed,gnomAD
RBP4	P02753	p.Met45Thr	rs374519908	missense variant	-	NC_000010.11:g.93600781A>G	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Lys48Arg	rs748116788	missense variant	-	NC_000010.11:g.93600772T>C	ExAC,gnomAD
RBP4	P02753	p.Glu51Val	rs781035891	missense variant	-	NC_000010.11:g.93600763T>A	ExAC,gnomAD
RBP4	P02753	p.Glu51Lys	rs1267538782	missense variant	-	NC_000010.11:g.93600764C>T	gnomAD
RBP4	P02753	p.Leu53Val	rs780211759	missense variant	-	NC_000010.11:g.93600758G>C	ExAC,gnomAD
RBP4	P02753	p.Gln56Arg	rs1348939241	missense variant	-	NC_000010.11:g.93600748T>C	gnomAD
RBP4	P02753	p.Gln56Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.93600749G>A	NCI-TCGA
RBP4	P02753	p.Ile59Asn	rs121918584	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (rdccas)	NC_000010.11:g.93600739A>T	-
RBP4	P02753	p.Ile59Asn	rs121918584	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600739A>T	UniProt,dbSNP
RBP4	P02753	p.Ile59Asn	VAR_009276	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600739A>T	UniProt
RBP4	P02753	p.Ile59Asn	RCV000013942	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600739A>T	ClinVar
RBP4	P02753	p.Val60Ile	rs369214755	missense variant	-	NC_000010.11:g.93600737C>T	ESP,ExAC,gnomAD
RBP4	P02753	p.Val60Leu	rs369214755	missense variant	-	NC_000010.11:g.93600737C>G	ESP,ExAC,gnomAD
RBP4	P02753	p.Val65Met	rs1345180631	missense variant	-	NC_000010.11:g.93600722C>T	gnomAD
RBP4	P02753	p.Gly69Cys	rs761838369	missense variant	-	NC_000010.11:g.93600710C>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly69Ser	rs761838369	missense variant	-	NC_000010.11:g.93600710C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly69Asp	rs1286979622	missense variant	-	NC_000010.11:g.93600709C>T	TOPMed
RBP4	P02753	p.Gln70Glu	rs754347794	missense variant	-	NC_000010.11:g.93600707G>C	ExAC,gnomAD
RBP4	P02753	p.Met71Ile	rs764527292	missense variant	-	NC_000010.11:g.93600702C>T	ExAC,gnomAD
RBP4	P02753	p.Ser72Arg	rs1400085004	missense variant	-	NC_000010.11:g.93600701T>G	gnomAD
RBP4	P02753	p.Ser72Ile	rs1208647799	missense variant	-	NC_000010.11:g.93600700C>A	TOPMed
RBP4	P02753	p.Ala73Thr	rs794726862	missense variant	-	NC_000010.11:g.93600698C>T	-
RBP4	P02753	p.Ala73Thr	RCV000173003	missense variant	Microphthalmia, isolated, with coloboma 10 (MCOPCB10)	NC_000010.11:g.93600698C>T	ClinVar
RBP4	P02753	p.Ala75Thr	RCV000173002	missense variant	Microphthalmia, isolated, with coloboma 10 (MCOPCB10)	NC_000010.11:g.93600692C>T	ClinVar
RBP4	P02753	p.Ala75Thr	rs794726861	missense variant	-	NC_000010.11:g.93600692C>T	-
RBP4	P02753	p.Val79Gly	rs1160142936	missense variant	-	NC_000010.11:g.93600679A>C	gnomAD
RBP4	P02753	p.Arg80His	rs1457436938	missense variant	-	NC_000010.11:g.93600676C>T	gnomAD
RBP4	P02753	p.Leu81Val	rs956132306	missense variant	-	NC_000010.11:g.93600674G>C	TOPMed
RBP4	P02753	p.Leu81Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.93600674G>T	NCI-TCGA
RBP4	P02753	p.Trp85Arg	rs1169740878	missense variant	-	NC_000010.11:g.93600495A>T	gnomAD
RBP4	P02753	p.Asp86Val	rs1340137234	missense variant	-	NC_000010.11:g.93600491T>A	TOPMed
RBP4	P02753	p.Asp86His	rs1274405447	missense variant	-	NC_000010.11:g.93600492C>G	TOPMed
RBP4	P02753	p.Ala89Thr	rs1383758574	missense variant	-	NC_000010.11:g.93600483C>T	gnomAD
RBP4	P02753	p.Asp90Ala	rs1483784837	missense variant	-	NC_000010.11:g.93600479T>G	gnomAD
RBP4	P02753	p.Asp90Asn	COSM4016763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.93600480C>T	NCI-TCGA Cosmic
RBP4	P02753	p.Met91Ile	rs1232455607	missense variant	-	NC_000010.11:g.93600475C>T	gnomAD
RBP4	P02753	p.Gly93Asp	rs121918585	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (rdccas)	NC_000010.11:g.93600470C>T	-
RBP4	P02753	p.Gly93Asp	rs121918585	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600470C>T	UniProt,dbSNP
RBP4	P02753	p.Gly93Asp	VAR_009277	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600470C>T	UniProt
RBP4	P02753	p.Gly93Asp	RCV000013943	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600470C>T	ClinVar
RBP4	P02753	p.Gly93Ser	rs200867321	missense variant	-	NC_000010.11:g.93600471C>T	1000Genomes,TOPMed
RBP4	P02753	p.Glu99Lys	rs201407285	missense variant	-	NC_000010.11:g.93600453C>T	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Pro101Ser	rs749329416	missense variant	-	NC_000010.11:g.93600447G>A	ExAC,gnomAD
RBP4	P02753	p.Pro101Leu	rs149091963	missense variant	-	NC_000010.11:g.93600446G>A	ESP,TOPMed,gnomAD
RBP4	P02753	p.Pro101His	rs149091963	missense variant	-	NC_000010.11:g.93600446G>T	ESP,TOPMed,gnomAD
RBP4	P02753	p.Ala102Ser	rs1229755738	missense variant	-	NC_000010.11:g.93600444C>A	gnomAD
RBP4	P02753	p.Met106Leu	rs145044751	missense variant	-	NC_000010.11:g.93600432T>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Lys107Glu	rs1278543743	missense variant	-	NC_000010.11:g.93600429T>C	gnomAD
RBP4	P02753	p.Tyr108Cys	rs966917637	missense variant	-	NC_000010.11:g.93600425T>C	-
RBP4	P02753	p.Trp109Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.93600421C>A	NCI-TCGA
RBP4	P02753	p.Ser113Phe	rs753226964	missense variant	-	NC_000010.11:g.93600410G>A	ExAC,gnomAD
RBP4	P02753	p.Gln116His	rs755349479	missense variant	-	NC_000010.11:g.93600400C>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly118Glu	rs1554887443	missense variant	-	NC_000010.11:g.93600395C>T	-
RBP4	P02753	p.Gly118Glu	RCV000585464	missense variant	-	NC_000010.11:g.93600395C>T	ClinVar
RBP4	P02753	p.Asn119Ile	rs753409149	missense variant	-	NC_000010.11:g.93594035T>A	ExAC,gnomAD
RBP4	P02753	p.Trp123Arg	rs1213305527	missense variant	-	NC_000010.11:g.93594024A>G	gnomAD
RBP4	P02753	p.Trp123Cys	rs1330964708	missense variant	-	NC_000010.11:g.93594022C>A	gnomAD
RBP4	P02753	p.Val125Ile	rs370579379	missense variant	-	NC_000010.11:g.93594018C>T	ESP,TOPMed,gnomAD
RBP4	P02753	p.Asp126Asn	rs752204198	missense variant	-	NC_000010.11:g.93594015C>T	ExAC,gnomAD
RBP4	P02753	p.Asp126His	rs752204198	missense variant	-	NC_000010.11:g.93594015C>G	ExAC,gnomAD
RBP4	P02753	p.Asp128Asn	rs759375642	missense variant	-	NC_000010.11:g.93594009C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Tyr129Cys	rs377583528	missense variant	-	NC_000010.11:g.93594005T>C	ESP,TOPMed
RBP4	P02753	p.Asp130Asn	rs368943307	missense variant	-	NC_000010.11:g.93594003C>T	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Thr131Met	rs577540732	missense variant	-	NC_000010.11:g.93593999G>A	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Thr131Lys	rs577540732	missense variant	-	NC_000010.11:g.93593999G>T	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Tyr132Asn	rs1329285216	missense variant	-	NC_000010.11:g.93593997A>T	TOPMed
RBP4	P02753	p.Tyr132Asn	RCV000608678	missense variant	Congenital ocular coloboma	NC_000010.11:g.93593997A>T	ClinVar
RBP4	P02753	p.Val134Glu	rs781436011	missense variant	-	NC_000010.11:g.93593990A>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val134Leu	rs557609728	missense variant	-	NC_000010.11:g.93593991C>G	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val134Met	rs557609728	missense variant	-	NC_000010.11:g.93593991C>T	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ser137Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.93593981G>A	NCI-TCGA
RBP4	P02753	p.Arg139His	rs747468011	missense variant	-	NC_000010.11:g.93593975C>T	ExAC,gnomAD
RBP4	P02753	p.Arg139Cys	rs377707619	missense variant	-	NC_000010.11:g.93593976G>A	ESP,TOPMed,gnomAD
RBP4	P02753	p.Leu143Phe	rs758640008	missense variant	-	NC_000010.11:g.93593964G>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Asp144His	rs1053926554	missense variant	-	NC_000010.11:g.93593961C>G	gnomAD
RBP4	P02753	p.Asp144Asn	rs1053926554	missense variant	-	NC_000010.11:g.93593961C>T	gnomAD
RBP4	P02753	p.Ser152Phe	rs1291563961	missense variant	-	NC_000010.11:g.93593936G>A	gnomAD
RBP4	P02753	p.Val154Leu	rs759129264	missense variant	-	NC_000010.11:g.93593931C>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val154Met	rs759129264	missense variant	-	NC_000010.11:g.93593931C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ser156Phe	rs766365350	missense variant	-	NC_000010.11:g.93593924G>A	ExAC,gnomAD
RBP4	P02753	p.Arg157Gly	rs762620416	missense variant	-	NC_000010.11:g.93593922G>C	ExAC,gnomAD
RBP4	P02753	p.Arg157Trp	rs762620416	missense variant	-	NC_000010.11:g.93593922G>A	ExAC,gnomAD
RBP4	P02753	p.Asp158Tyr	rs765499399	missense variant	-	NC_000010.11:g.93593919C>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Asp158Glu	rs762114740	missense variant	-	NC_000010.11:g.93593917G>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Pro159Ser	rs1461501352	missense variant	-	NC_000010.11:g.93593916G>A	gnomAD
RBP4	P02753	p.Pro159Leu	rs777062715	missense variant	-	NC_000010.11:g.93593915G>A	ExAC,gnomAD
RBP4	P02753	p.Asn160Ser	rs1166604792	missense variant	-	NC_000010.11:g.93593912T>C	gnomAD
RBP4	P02753	p.Gly161Ser	rs372010388	missense variant	-	NC_000010.11:g.93593910C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly161Cys	rs372010388	missense variant	-	NC_000010.11:g.93593910C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly161Asp	rs1182824785	missense variant	-	NC_000010.11:g.93593909C>T	gnomAD
RBP4	P02753	p.Pro163Ser	rs189196082	missense variant	-	NC_000010.11:g.93593904G>A	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Pro163Leu	rs1200700147	missense variant	-	NC_000010.11:g.93593903G>A	gnomAD
RBP4	P02753	p.Pro164Leu	rs761576794	missense variant	-	NC_000010.11:g.93593900G>A	ExAC,gnomAD
RBP4	P02753	p.Pro164Ser	rs1300679356	missense variant	-	NC_000010.11:g.93593901G>A	TOPMed
RBP4	P02753	p.Pro164Arg	rs761576794	missense variant	-	NC_000010.11:g.93593900G>C	ExAC,gnomAD
RBP4	P02753	p.Glu165Ala	rs1343571696	missense variant	-	NC_000010.11:g.93593897T>G	gnomAD
RBP4	P02753	p.Ala166Val	rs780950382	missense variant	-	NC_000010.11:g.93593894G>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ile169Thr	rs758370370	missense variant	-	NC_000010.11:g.93593885A>G	ExAC,gnomAD
RBP4	P02753	p.Ile169Met	rs750444432	missense variant	-	NC_000010.11:g.93593884A>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ile169Phe	rs766167167	missense variant	-	NC_000010.11:g.93593886T>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ile169Val	rs766167167	missense variant	-	NC_000010.11:g.93593886T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val170Gly	rs761742578	missense variant	-	NC_000010.11:g.93593882A>C	ExAC,gnomAD
RBP4	P02753	p.Val170Leu	rs769917680	missense variant	-	NC_000010.11:g.93593883C>A	ExAC,TOPMed
RBP4	P02753	p.Val170Ala	rs761742578	missense variant	-	NC_000010.11:g.93593882A>G	ExAC,gnomAD
RBP4	P02753	p.Arg173Trp	rs139534453	missense variant	-	NC_000010.11:g.93593874G>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Arg173Gln	rs760604288	missense variant	-	NC_000010.11:g.93593873C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Glu175Gly	rs775648139	missense variant	-	NC_000010.11:g.93593867T>C	ExAC,gnomAD
RBP4	P02753	p.Glu176Asp	rs150540008	missense variant	-	NC_000010.11:g.93593863C>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Glu176Gly	rs772097627	missense variant	-	NC_000010.11:g.93593864T>C	ExAC,gnomAD
RBP4	P02753	p.Glu176Lys	COSM3441675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.93593865C>T	NCI-TCGA Cosmic
RBP4	P02753	p.Arg181Gly	rs771265283	missense variant	-	NC_000010.11:g.93593850T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Arg181Trp	rs771265283	missense variant	-	NC_000010.11:g.93593850T>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gln182Ter	rs116887052	stop gained	-	NC_000010.11:g.93593847G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gln182Lys	rs116887052	missense variant	-	NC_000010.11:g.93593847G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gln182Lys	RCV000289013	missense variant	-	NC_000010.11:g.93593847G>T	ClinVar
RBP4	P02753	p.Arg184Gly	rs1183800619	missense variant	-	NC_000010.11:g.93593841T>C	gnomAD
RBP4	P02753	p.Arg184Lys	rs1483104291	missense variant	-	NC_000010.11:g.93593840C>T	gnomAD
RBP4	P02753	p.Arg184Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.93593840C>A	NCI-TCGA
RBP4	P02753	p.Ile186Leu	rs1291625732	missense variant	-	NC_000010.11:g.93593835T>G	gnomAD
RBP4	P02753	p.Ile186Met	rs374987431	missense variant	-	NC_000010.11:g.93593833G>C	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val187Ile	rs779604024	missense variant	-	NC_000010.11:g.93593832C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.His188Arg	rs758050576	missense variant	-	NC_000010.11:g.93593828T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Asn189Ser	rs750356617	missense variant	-	NC_000010.11:g.93593825T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly190Ser	rs1009832282	missense variant	-	NC_000010.11:g.93593823C>T	TOPMed,gnomAD
RBP4	P02753	p.Asp193Asn	rs777620177	missense variant	-	NC_000010.11:g.93592104C>T	ExAC,gnomAD
RBP4	P02753	p.Arg195Lys	rs772316438	missense variant	-	NC_000010.11:g.93592097C>T	TOPMed
RBP4	P02753	p.Glu197Ter	COSM4858859	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.93592092C>A	NCI-TCGA Cosmic
RBP4	P02753	p.Arg198Lys	rs1250341170	missense variant	-	NC_000010.11:g.93592088C>T	gnomAD
RBP4	P02753	p.Asn199Lys	rs752939815	missense variant	-	NC_000010.11:g.93592084G>T	ExAC,gnomAD
RBP4	P02753	p.Leu200Pro	rs1411015042	missense variant	-	NC_000010.11:g.93592082A>G	TOPMed
RBP4	P02753	p.Leu201Val	rs767751790	missense variant	-	NC_000010.11:g.93592080A>C	ExAC,gnomAD
RBP4	P02753	p.Leu201Trp	rs1276584529	missense variant	-	NC_000010.11:g.93592079A>C	gnomAD
RBP4	P02753	p.Ter202Trp	rs1220954894	stop lost	-	NC_000010.11:g.93592076T>C	gnomAD
RBP4	P02753	p.Lys2Asn	rs1223394124	missense variant	-	NC_000010.11:g.93601023C>G	gnomAD
RBP4	P02753	p.Val4Leu	rs759490328	missense variant	-	NC_000010.11:g.93601019C>G	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val4Met	rs759490328	missense variant	-	NC_000010.11:g.93601019C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Trp5Arg	rs1213587529	missense variant	-	NC_000010.11:g.93601016A>G	gnomAD
RBP4	P02753	p.Ala6Val	rs774496890	missense variant	-	NC_000010.11:g.93601012G>A	ExAC,gnomAD
RBP4	P02753	p.Ala6Val	RCV000175830	missense variant	-	NC_000010.11:g.93601012G>A	ClinVar
RBP4	P02753	p.Leu7Phe	rs974187494	missense variant	-	NC_000010.11:g.93601010G>A	TOPMed
RBP4	P02753	p.Leu8Phe	rs11546956	missense variant	-	NC_000010.11:g.93601005C>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Leu8Phe	RCV000596945	missense variant	-	NC_000010.11:g.93601005C>A	ClinVar
RBP4	P02753	p.Leu9Gln	rs529161250	missense variant	-	NC_000010.11:g.93601003A>T	1000Genomes,ExAC,gnomAD
RBP4	P02753	p.Ala11Val	rs1287578767	missense variant	-	NC_000010.11:g.93600997G>A	gnomAD
RBP4	P02753	p.Gly14Asp	rs560465876	missense variant	-	NC_000010.11:g.93600988C>T	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ser15Gly	rs758073926	missense variant	-	NC_000010.11:g.93600986T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ser15Gly	RCV000303109	missense variant	-	NC_000010.11:g.93600986T>C	ClinVar
RBP4	P02753	p.Arg17Leu	rs971623953	missense variant	-	NC_000010.11:g.93600979C>A	TOPMed
RBP4	P02753	p.Ala18Ser	rs1185115684	missense variant	-	NC_000010.11:g.93600977C>A	gnomAD
RBP4	P02753	p.Glu19Gln	rs1218547712	missense variant	-	NC_000010.11:g.93600974C>G	TOPMed
RBP4	P02753	p.Cys22Ter	rs1023148051	stop gained	-	NC_000010.11:g.93600963G>T	TOPMed
RBP4	P02753	p.Arg23Ter	rs1259782555	stop gained	-	NC_000010.11:g.93600962G>A	TOPMed,gnomAD
RBP4	P02753	p.Arg23Pro	rs756894160	missense variant	-	NC_000010.11:g.93600961C>G	ExAC,gnomAD
RBP4	P02753	p.Arg23Gly	rs1259782555	missense variant	-	NC_000010.11:g.93600962G>C	TOPMed,gnomAD
RBP4	P02753	p.Val24Met	rs753792133	missense variant	-	NC_000010.11:g.93600959C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val24Leu	rs753792133	missense variant	-	NC_000010.11:g.93600959C>G	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ser25Asn	rs755814837	missense variant	-	NC_000010.11:g.93600955C>T	ExAC,gnomAD
RBP4	P02753	p.Ser26Gly	rs1273383655	missense variant	-	NC_000010.11:g.93600953T>C	TOPMed
RBP4	P02753	p.Lys30Arg	rs1262010191	missense variant	-	NC_000010.11:g.93600940T>C	gnomAD
RBP4	P02753	p.Lys30Glu	rs1325307676	missense variant	-	NC_000010.11:g.93600941T>C	gnomAD
RBP4	P02753	p.Glu31Val	rs1292870418	missense variant	-	NC_000010.11:g.93600937T>A	gnomAD
RBP4	P02753	p.Glu31Gln	rs752565532	missense variant	-	NC_000010.11:g.93600938C>G	ExAC
RBP4	P02753	p.Asn32Asp	rs887978696	missense variant	-	NC_000010.11:g.93600935T>C	TOPMed
RBP4	P02753	p.Phe33Leu	rs1384395427	missense variant	-	NC_000010.11:g.93600932A>G	gnomAD
RBP4	P02753	p.Arg37His	rs1049674420	missense variant	-	NC_000010.11:g.93600919C>T	TOPMed
RBP4	P02753	p.Arg37Gly	rs759820276	missense variant	-	NC_000010.11:g.93600920G>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ser39Pro	rs1331074048	missense variant	-	NC_000010.11:g.93600800A>G	gnomAD
RBP4	P02753	p.Gly40Glu	rs760990155	missense variant	-	NC_000010.11:g.93600796C>T	ExAC,gnomAD
RBP4	P02753	p.Thr41Ile	rs367834906	missense variant	-	NC_000010.11:g.93600793G>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ala44Ser	rs748737715	missense variant	-	NC_000010.11:g.93600785C>A	ExAC,gnomAD
RBP4	P02753	p.Ala44Val	rs1367448735	missense variant	-	NC_000010.11:g.93600784G>A	gnomAD
RBP4	P02753	p.Met45Thr	rs374519908	missense variant	-	NC_000010.11:g.93600781A>G	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Met45Leu	rs1163778506	missense variant	-	NC_000010.11:g.93600782T>G	TOPMed,gnomAD
RBP4	P02753	p.Lys48Arg	rs748116788	missense variant	-	NC_000010.11:g.93600772T>C	ExAC,gnomAD
RBP4	P02753	p.Glu51Val	rs781035891	missense variant	-	NC_000010.11:g.93600763T>A	ExAC,gnomAD
RBP4	P02753	p.Glu51Lys	rs1267538782	missense variant	-	NC_000010.11:g.93600764C>T	gnomAD
RBP4	P02753	p.Leu53Val	rs780211759	missense variant	-	NC_000010.11:g.93600758G>C	ExAC,gnomAD
RBP4	P02753	p.Gln56Arg	rs1348939241	missense variant	-	NC_000010.11:g.93600748T>C	gnomAD
RBP4	P02753	p.Ile59Asn	rs121918584	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (rdccas)	NC_000010.11:g.93600739A>T	-
RBP4	P02753	p.Ile59Asn	rs121918584	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600739A>T	UniProt,dbSNP
RBP4	P02753	p.Ile59Asn	VAR_009276	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600739A>T	UniProt
RBP4	P02753	p.Ile59Asn	RCV000013942	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600739A>T	ClinVar
RBP4	P02753	p.Val60Ile	rs369214755	missense variant	-	NC_000010.11:g.93600737C>T	ESP,ExAC,gnomAD
RBP4	P02753	p.Val60Leu	rs369214755	missense variant	-	NC_000010.11:g.93600737C>G	ESP,ExAC,gnomAD
RBP4	P02753	p.Val65Met	rs1345180631	missense variant	-	NC_000010.11:g.93600722C>T	gnomAD
RBP4	P02753	p.Gly69Cys	rs761838369	missense variant	-	NC_000010.11:g.93600710C>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly69Asp	rs1286979622	missense variant	-	NC_000010.11:g.93600709C>T	TOPMed
RBP4	P02753	p.Gly69Ser	rs761838369	missense variant	-	NC_000010.11:g.93600710C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gln70Glu	rs754347794	missense variant	-	NC_000010.11:g.93600707G>C	ExAC,gnomAD
RBP4	P02753	p.Met71Ile	rs764527292	missense variant	-	NC_000010.11:g.93600702C>T	ExAC,gnomAD
RBP4	P02753	p.Ser72Arg	rs1400085004	missense variant	-	NC_000010.11:g.93600701T>G	gnomAD
RBP4	P02753	p.Ser72Ile	rs1208647799	missense variant	-	NC_000010.11:g.93600700C>A	TOPMed
RBP4	P02753	p.Ala73Thr	rs794726862	missense variant	-	NC_000010.11:g.93600698C>T	-
RBP4	P02753	p.Ala73Thr	RCV000173003	missense variant	Microphthalmia, isolated, with coloboma 10 (MCOPCB10)	NC_000010.11:g.93600698C>T	ClinVar
RBP4	P02753	p.Ala75Thr	RCV000173002	missense variant	Microphthalmia, isolated, with coloboma 10 (MCOPCB10)	NC_000010.11:g.93600692C>T	ClinVar
RBP4	P02753	p.Val79Gly	rs1160142936	missense variant	-	NC_000010.11:g.93600679A>C	gnomAD
RBP4	P02753	p.Arg80His	rs1457436938	missense variant	-	NC_000010.11:g.93600676C>T	gnomAD
RBP4	P02753	p.Leu81Val	rs956132306	missense variant	-	NC_000010.11:g.93600674G>C	TOPMed
RBP4	P02753	p.Trp85Arg	rs1169740878	missense variant	-	NC_000010.11:g.93600495A>T	gnomAD
RBP4	P02753	p.Asp86His	rs1274405447	missense variant	-	NC_000010.11:g.93600492C>G	TOPMed
RBP4	P02753	p.Asp86Val	rs1340137234	missense variant	-	NC_000010.11:g.93600491T>A	TOPMed
RBP4	P02753	p.Ala89Thr	rs1383758574	missense variant	-	NC_000010.11:g.93600483C>T	gnomAD
RBP4	P02753	p.Asp90Ala	rs1483784837	missense variant	-	NC_000010.11:g.93600479T>G	gnomAD
RBP4	P02753	p.Met91Ile	rs1232455607	missense variant	-	NC_000010.11:g.93600475C>T	gnomAD
RBP4	P02753	p.Gly93Asp	RCV000013943	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600470C>T	ClinVar
RBP4	P02753	p.Gly93Asp	rs121918585	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600470C>T	UniProt,dbSNP
RBP4	P02753	p.Gly93Asp	VAR_009277	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)	NC_000010.11:g.93600470C>T	UniProt
RBP4	P02753	p.Gly93Asp	rs121918585	missense variant	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (rdccas)	NC_000010.11:g.93600470C>T	-
RBP4	P02753	p.Gly93Ser	rs200867321	missense variant	-	NC_000010.11:g.93600471C>T	1000Genomes,TOPMed
RBP4	P02753	p.Glu99Lys	rs201407285	missense variant	-	NC_000010.11:g.93600453C>T	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Pro101Leu	rs149091963	missense variant	-	NC_000010.11:g.93600446G>A	ESP,TOPMed,gnomAD
RBP4	P02753	p.Pro101His	rs149091963	missense variant	-	NC_000010.11:g.93600446G>T	ESP,TOPMed,gnomAD
RBP4	P02753	p.Pro101Ser	rs749329416	missense variant	-	NC_000010.11:g.93600447G>A	ExAC,gnomAD
RBP4	P02753	p.Ala102Ser	rs1229755738	missense variant	-	NC_000010.11:g.93600444C>A	gnomAD
RBP4	P02753	p.Met106Leu	rs145044751	missense variant	-	NC_000010.11:g.93600432T>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Lys107Glu	rs1278543743	missense variant	-	NC_000010.11:g.93600429T>C	gnomAD
RBP4	P02753	p.Tyr108Cys	rs966917637	missense variant	-	NC_000010.11:g.93600425T>C	-
RBP4	P02753	p.Ser113Phe	rs753226964	missense variant	-	NC_000010.11:g.93600410G>A	ExAC,gnomAD
RBP4	P02753	p.Gln116His	rs755349479	missense variant	-	NC_000010.11:g.93600400C>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly118Glu	rs1554887443	missense variant	-	NC_000010.11:g.93600395C>T	-
RBP4	P02753	p.Gly118Glu	RCV000585464	missense variant	-	NC_000010.11:g.93600395C>T	ClinVar
RBP4	P02753	p.Asn119Ile	rs753409149	missense variant	-	NC_000010.11:g.93594035T>A	ExAC,gnomAD
RBP4	P02753	p.Trp123Arg	rs1213305527	missense variant	-	NC_000010.11:g.93594024A>G	gnomAD
RBP4	P02753	p.Trp123Cys	rs1330964708	missense variant	-	NC_000010.11:g.93594022C>A	gnomAD
RBP4	P02753	p.Val125Ile	rs370579379	missense variant	-	NC_000010.11:g.93594018C>T	ESP,TOPMed,gnomAD
RBP4	P02753	p.Asp126Asn	rs752204198	missense variant	-	NC_000010.11:g.93594015C>T	ExAC,gnomAD
RBP4	P02753	p.Asp126His	rs752204198	missense variant	-	NC_000010.11:g.93594015C>G	ExAC,gnomAD
RBP4	P02753	p.Asp128Asn	rs759375642	missense variant	-	NC_000010.11:g.93594009C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Tyr129Cys	rs377583528	missense variant	-	NC_000010.11:g.93594005T>C	ESP,TOPMed
RBP4	P02753	p.Asp130Asn	rs368943307	missense variant	-	NC_000010.11:g.93594003C>T	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Thr131Met	rs577540732	missense variant	-	NC_000010.11:g.93593999G>A	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Thr131Lys	rs577540732	missense variant	-	NC_000010.11:g.93593999G>T	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Tyr132Asn	RCV000608678	missense variant	Congenital ocular coloboma	NC_000010.11:g.93593997A>T	ClinVar
RBP4	P02753	p.Tyr132Asn	rs1329285216	missense variant	-	NC_000010.11:g.93593997A>T	TOPMed
RBP4	P02753	p.Val134Glu	rs781436011	missense variant	-	NC_000010.11:g.93593990A>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val134Leu	rs557609728	missense variant	-	NC_000010.11:g.93593991C>G	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val134Met	rs557609728	missense variant	-	NC_000010.11:g.93593991C>T	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Arg139His	rs747468011	missense variant	-	NC_000010.11:g.93593975C>T	ExAC,gnomAD
RBP4	P02753	p.Arg139Cys	rs377707619	missense variant	-	NC_000010.11:g.93593976G>A	ESP,TOPMed,gnomAD
RBP4	P02753	p.Leu143Phe	rs758640008	missense variant	-	NC_000010.11:g.93593964G>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Asp144His	rs1053926554	missense variant	-	NC_000010.11:g.93593961C>G	gnomAD
RBP4	P02753	p.Asp144Asn	rs1053926554	missense variant	-	NC_000010.11:g.93593961C>T	gnomAD
RBP4	P02753	p.Ser152Phe	rs1291563961	missense variant	-	NC_000010.11:g.93593936G>A	gnomAD
RBP4	P02753	p.Val154Met	rs759129264	missense variant	-	NC_000010.11:g.93593931C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val154Leu	rs759129264	missense variant	-	NC_000010.11:g.93593931C>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ser156Phe	rs766365350	missense variant	-	NC_000010.11:g.93593924G>A	ExAC,gnomAD
RBP4	P02753	p.Arg157Trp	rs762620416	missense variant	-	NC_000010.11:g.93593922G>A	ExAC,gnomAD
RBP4	P02753	p.Arg157Gly	rs762620416	missense variant	-	NC_000010.11:g.93593922G>C	ExAC,gnomAD
RBP4	P02753	p.Asp158Glu	rs762114740	missense variant	-	NC_000010.11:g.93593917G>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Asp158Tyr	rs765499399	missense variant	-	NC_000010.11:g.93593919C>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Pro159Ser	rs1461501352	missense variant	-	NC_000010.11:g.93593916G>A	gnomAD
RBP4	P02753	p.Pro159Leu	rs777062715	missense variant	-	NC_000010.11:g.93593915G>A	ExAC,gnomAD
RBP4	P02753	p.Asn160Ser	rs1166604792	missense variant	-	NC_000010.11:g.93593912T>C	gnomAD
RBP4	P02753	p.Gly161Cys	rs372010388	missense variant	-	NC_000010.11:g.93593910C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly161Asp	rs1182824785	missense variant	-	NC_000010.11:g.93593909C>T	gnomAD
RBP4	P02753	p.Gly161Ser	rs372010388	missense variant	-	NC_000010.11:g.93593910C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Pro163Leu	rs1200700147	missense variant	-	NC_000010.11:g.93593903G>A	gnomAD
RBP4	P02753	p.Pro163Ser	rs189196082	missense variant	-	NC_000010.11:g.93593904G>A	1000Genomes,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Pro164Arg	rs761576794	missense variant	-	NC_000010.11:g.93593900G>C	ExAC,gnomAD
RBP4	P02753	p.Pro164Ser	rs1300679356	missense variant	-	NC_000010.11:g.93593901G>A	TOPMed
RBP4	P02753	p.Pro164Leu	rs761576794	missense variant	-	NC_000010.11:g.93593900G>A	ExAC,gnomAD
RBP4	P02753	p.Glu165Ala	rs1343571696	missense variant	-	NC_000010.11:g.93593897T>G	gnomAD
RBP4	P02753	p.Ala166Val	rs780950382	missense variant	-	NC_000010.11:g.93593894G>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ile169Phe	rs766167167	missense variant	-	NC_000010.11:g.93593886T>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ile169Val	rs766167167	missense variant	-	NC_000010.11:g.93593886T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ile169Met	rs750444432	missense variant	-	NC_000010.11:g.93593884A>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Ile169Thr	rs758370370	missense variant	-	NC_000010.11:g.93593885A>G	ExAC,gnomAD
RBP4	P02753	p.Val170Gly	rs761742578	missense variant	-	NC_000010.11:g.93593882A>C	ExAC,gnomAD
RBP4	P02753	p.Val170Ala	rs761742578	missense variant	-	NC_000010.11:g.93593882A>G	ExAC,gnomAD
RBP4	P02753	p.Val170Leu	rs769917680	missense variant	-	NC_000010.11:g.93593883C>A	ExAC,TOPMed
RBP4	P02753	p.Arg173Trp	rs139534453	missense variant	-	NC_000010.11:g.93593874G>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Arg173Gln	rs760604288	missense variant	-	NC_000010.11:g.93593873C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Glu175Gly	rs775648139	missense variant	-	NC_000010.11:g.93593867T>C	ExAC,gnomAD
RBP4	P02753	p.Glu176Asp	rs150540008	missense variant	-	NC_000010.11:g.93593863C>A	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Glu176Gly	rs772097627	missense variant	-	NC_000010.11:g.93593864T>C	ExAC,gnomAD
RBP4	P02753	p.Arg181Gly	rs771265283	missense variant	-	NC_000010.11:g.93593850T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Arg181Trp	rs771265283	missense variant	-	NC_000010.11:g.93593850T>A	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gln182Lys	rs116887052	missense variant	-	NC_000010.11:g.93593847G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gln182Ter	rs116887052	stop gained	-	NC_000010.11:g.93593847G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gln182Lys	RCV000289013	missense variant	-	NC_000010.11:g.93593847G>T	ClinVar
RBP4	P02753	p.Arg184Gly	rs1183800619	missense variant	-	NC_000010.11:g.93593841T>C	gnomAD
RBP4	P02753	p.Arg184Lys	rs1483104291	missense variant	-	NC_000010.11:g.93593840C>T	gnomAD
RBP4	P02753	p.Ile186Leu	rs1291625732	missense variant	-	NC_000010.11:g.93593835T>G	gnomAD
RBP4	P02753	p.Ile186Met	rs374987431	missense variant	-	NC_000010.11:g.93593833G>C	ESP,ExAC,TOPMed,gnomAD
RBP4	P02753	p.Val187Ile	rs779604024	missense variant	-	NC_000010.11:g.93593832C>T	ExAC,TOPMed,gnomAD
RBP4	P02753	p.His188Arg	rs758050576	missense variant	-	NC_000010.11:g.93593828T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Asn189Ser	rs750356617	missense variant	-	NC_000010.11:g.93593825T>C	ExAC,TOPMed,gnomAD
RBP4	P02753	p.Gly190Ser	rs1009832282	missense variant	-	NC_000010.11:g.93593823C>T	TOPMed,gnomAD
RBP4	P02753	p.Asp193Asn	rs777620177	missense variant	-	NC_000010.11:g.93592104C>T	ExAC,gnomAD
RBP4	P02753	p.Arg195Lys	rs772316438	missense variant	-	NC_000010.11:g.93592097C>T	TOPMed
RBP4	P02753	p.Arg198Lys	rs1250341170	missense variant	-	NC_000010.11:g.93592088C>T	gnomAD
RBP4	P02753	p.Asn199Lys	rs752939815	missense variant	-	NC_000010.11:g.93592084G>T	ExAC,gnomAD
RBP4	P02753	p.Leu200Pro	rs1411015042	missense variant	-	NC_000010.11:g.93592082A>G	TOPMed
RBP4	P02753	p.Leu201Trp	rs1276584529	missense variant	-	NC_000010.11:g.93592079A>C	gnomAD
RBP4	P02753	p.Leu201Val	rs767751790	missense variant	-	NC_000010.11:g.93592080A>C	ExAC,gnomAD
RBP4	P02753	p.Ter202Trp	rs1220954894	stop lost	-	NC_000010.11:g.93592076T>C	gnomAD
TP53	P04637	p.Glu2Lys	RCV000695387	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676591C>T	ClinVar
TP53	P04637	p.Glu2Lys	rs769884991	missense variant	-	NC_000017.11:g.7676591C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu2Lys	RCV000579480	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676591C>T	ClinVar
TP53	P04637	p.Glu3Gly	rs786203938	missense variant	-	NC_000017.11:g.7676587T>C	-
TP53	P04637	p.Glu3Gly	RCV000167456	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676587T>C	ClinVar
TP53	P04637	p.Glu3Gly	RCV000534086	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676587T>C	ClinVar
TP53	P04637	p.Pro4Arg	rs878854064	missense variant	-	NC_000017.11:g.7676584G>C	-
TP53	P04637	p.Pro4Leu	RCV000780782	missense variant	-	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Leu	RCV000662489	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Leu	RCV000571530	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Leu	RCV000229754	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Arg	RCV000475451	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676584G>C	ClinVar
TP53	P04637	p.Pro4Leu	RCV000759369	missense variant	-	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Thr	rs1356004172	missense variant	-	NC_000017.11:g.7676585G>T	TOPMed
TP53	P04637	p.Pro4Leu	rs878854064	missense variant	-	NC_000017.11:g.7676584G>A	-
TP53	P04637	p.Gln5Arg	rs781595324	missense variant	-	NC_000017.11:g.7676581T>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln5Arg	RCV000220312	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676581T>C	ClinVar
TP53	P04637	p.Gln5Arg	RCV000550564	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676581T>C	ClinVar
TP53	P04637	p.Gln5His	VAR_044543	Missense	-	-	UniProt
TP53	P04637	p.Ser6Pro	rs1357147493	missense variant	-	NC_000017.11:g.7676579A>G	gnomAD
TP53	P04637	p.Ser6Leu	VAR_044544	Missense	-	-	UniProt
TP53	P04637	p.Asp7Glu	rs587781277	missense variant	-	NC_000017.11:g.7676574A>T	-
TP53	P04637	p.Asp7His	RCV000132048	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676576C>G	ClinVar
TP53	P04637	p.Asp7Glu	RCV000574520	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676574A>C	ClinVar
TP53	P04637	p.Asp7HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676543_7676576TTTCCTGACTCAGAGGGGGCTCGACGCTAGGATC>-	NCI-TCGA
TP53	P04637	p.Asp7His	rs587782646	missense variant	-	NC_000017.11:g.7676576C>G	TOPMed,gnomAD
TP53	P04637	p.Asp7His	rs587782646	missense variant	-	NC_000017.11:g.7676576C>G	UniProt,dbSNP
TP53	P04637	p.Asp7His	VAR_005851	missense variant	-	NC_000017.11:g.7676576C>G	UniProt
TP53	P04637	p.Asp7Glu	rs587781277	missense variant	-	NC_000017.11:g.7676574A>C	-
TP53	P04637	p.Asp7Glu	RCV000802467	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676574A>T	ClinVar
TP53	P04637	p.Pro8Leu	rs876659415	missense variant	-	NC_000017.11:g.7676572G>A	TOPMed
TP53	P04637	p.Pro8Leu	RCV000221732	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676572G>A	ClinVar
TP53	P04637	p.Pro8Ser	VAR_044545	Missense	-	-	UniProt
TP53	P04637	p.Ser9Asn	rs1555527015	missense variant	-	NC_000017.11:g.7676569C>T	-
TP53	P04637	p.Ser9Arg	rs757282628	missense variant	-	NC_000017.11:g.7676568G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Ser9Arg	RCV000587100	missense variant	-	NC_000017.11:g.7676568G>C	ClinVar
TP53	P04637	p.Ser9Asn	RCV000534258	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676569C>T	ClinVar
TP53	P04637	p.Ser9Arg	rs1555527017	missense variant	-	NC_000017.11:g.7676570T>G	-
TP53	P04637	p.Ser9Arg	RCV000633332	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676570T>G	ClinVar
TP53	P04637	p.Val10Leu	rs535274413	missense variant	-	NC_000017.11:g.7676567C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Val10Ile	RCV000115717	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676567C>T	ClinVar
TP53	P04637	p.Val10Leu	RCV000220427	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676567C>G	ClinVar
TP53	P04637	p.Val10Ile	rs535274413	missense variant	-	NC_000017.11:g.7676567C>T	UniProt,dbSNP
TP53	P04637	p.Val10Ile	VAR_044546	missense variant	-	NC_000017.11:g.7676567C>T	UniProt
TP53	P04637	p.Val10Gly	rs1418778734	missense variant	-	NC_000017.11:g.7676566A>C	gnomAD
TP53	P04637	p.Val10Ile	rs535274413	missense variant	-	NC_000017.11:g.7676567C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Val10Leu	RCV000791760	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676567C>G	ClinVar
TP53	P04637	p.Glu11Lys	RCV000663228	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676564C>T	ClinVar
TP53	P04637	p.Glu11Lys	RCV000485338	missense variant	-	NC_000017.11:g.7676564C>T	ClinVar
TP53	P04637	p.Glu11Lys	RCV000548671	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676564C>T	ClinVar
TP53	P04637	p.Glu11Gln	RCV000161016	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676564C>G	ClinVar
TP53	P04637	p.Glu11Lys	rs201382018	missense variant	-	NC_000017.11:g.7676564C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu11Gln	rs201382018	missense variant	-	NC_000017.11:g.7676564C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro12Arg	rs1482497533	missense variant	-	NC_000017.11:g.7676560G>C	gnomAD
TP53	P04637	p.Pro12Leu	RCV000633363	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676560G>A	ClinVar
TP53	P04637	p.Pro12His	RCV000701186	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676560G>T	ClinVar
TP53	P04637	p.Pro12Leu	RCV000772527	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676560G>A	ClinVar
TP53	P04637	p.Pro12Leu	rs1482497533	missense variant	-	NC_000017.11:g.7676560G>A	gnomAD
TP53	P04637	p.Pro13Ser	rs1060501208	missense variant	-	NC_000017.11:g.7676558G>A	gnomAD
TP53	P04637	p.Pro13Ser	RCV000468196	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676558G>A	ClinVar
TP53	P04637	p.Pro13Ser	RCV000478642	missense variant	-	NC_000017.11:g.7676558G>A	ClinVar
TP53	P04637	p.Pro13Ser	RCV000574176	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676558G>A	ClinVar
TP53	P04637	p.Pro13Arg	RCV000571735	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676557G>C	ClinVar
TP53	P04637	p.Pro13Leu	RCV000226793	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676557G>A	ClinVar
TP53	P04637	p.Pro13Arg	rs878854070	missense variant	-	NC_000017.11:g.7676557G>C	TOPMed
TP53	P04637	p.Pro13Leu	rs878854070	missense variant	-	NC_000017.11:g.7676557G>A	TOPMed
TP53	P04637	p.Leu14Ter	RCV000576812	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676561dup	ClinVar
TP53	P04637	p.Leu14Val	RCV000699996	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676555G>C	ClinVar
TP53	P04637	p.Ser15LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676545_7676551TCCTGAC>-	NCI-TCGA
TP53	P04637	p.Ser15Arg	VAR_044549	Missense	-	-	UniProt
TP53	P04637	p.Gln16Ter	RCV000633337	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676550del	ClinVar
TP53	P04637	p.Gln16Leu	VAR_044550	Missense	-	-	UniProt
TP53	P04637	p.Glu17Asp	VAR_044551	Missense	-	-	UniProt
TP53	P04637	p.Thr18Ter	RCV000213243	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676545del	ClinVar
TP53	P04637	p.Ser20Ter	RCV000492768	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676540del	ClinVar
TP53	P04637	p.Ser20GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676537A>-	NCI-TCGA
TP53	P04637	p.Ser20Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7676536G>C	NCI-TCGA
TP53	P04637	p.Ser20Pro	rs876659913	missense variant	-	NC_000017.11:g.7676537A>G	-
TP53	P04637	p.Ser20Pro	RCV000219749	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676537A>G	ClinVar
TP53	P04637	p.Asp21Glu	rs1800369	missense variant	-	NC_000017.11:g.7676532G>C	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Leu22TyrPheSerTerUnkUnk	COSM4436144	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676531G>-	NCI-TCGA Cosmic
TP53	P04637	p.Trp23Ter	COSM4556687	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676526C>T	NCI-TCGA Cosmic
TP53	P04637	p.Lys24Asn	VAR_044552	Missense	-	-	UniProt
TP53	P04637	p.Leu26Ter	RCV000569180	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676398_7676401delinsACGTTCTT	ClinVar
TP53	P04637	p.Leu26Ter	RCV000036535	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676398_7676401delinsACGTTCTT	ClinVar
TP53	P04637	p.Pro27Thr	RCV000468603	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676399G>T	ClinVar
TP53	P04637	p.Pro27Ser	RCV000771430	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676399G>A	ClinVar
TP53	P04637	p.Pro27LeuPheSerTerUnkUnk	COSM296199	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676398G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro27LeuPheSerTerUnkUnk	COSM5614514	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676400A>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro27Leu	rs1555526933	missense variant	-	NC_000017.11:g.7676398G>A	-
TP53	P04637	p.Pro27Thr	rs922736614	missense variant	-	NC_000017.11:g.7676399G>T	gnomAD
TP53	P04637	p.Pro27Ser	rs922736614	missense variant	-	NC_000017.11:g.7676399G>A	gnomAD
TP53	P04637	p.Pro27Leu	RCV000572822	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676398G>A	ClinVar
TP53	P04637	p.Pro27Ser	RCV000633393	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676399G>A	ClinVar
TP53	P04637	p.Glu28Val	rs786202289	missense variant	-	NC_000017.11:g.7676395T>A	-
TP53	P04637	p.Glu28Val	RCV000165025	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676395T>A	ClinVar
TP53	P04637	p.Glu28Ala	VAR_044553	Missense	-	-	UniProt
TP53	P04637	p.Asn29Lys	rs1011445550	missense variant	-	NC_000017.11:g.7676391G>C	TOPMed
TP53	P04637	p.Asn29Ter	RCV000633338	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676395del	ClinVar
TP53	P04637	p.Asn29_Asn30delinsLysAsp	VAR_047158	deletion_insertion	-	-	UniProt
TP53	P04637	p.Val31Ile	RCV000122173	missense variant	-	NC_000017.11:g.7676387C>T	ClinVar
TP53	P04637	p.Val31Ter	RCV000493979	frameshift	-	NC_000017.11:g.7676387_7676388insT	ClinVar
TP53	P04637	p.Val31Phe	RCV000222526	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676387C>A	ClinVar
TP53	P04637	p.Val31Ile	rs201753350	missense variant	-	NC_000017.11:g.7676387C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Val31Phe	rs201753350	missense variant	-	NC_000017.11:g.7676387C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Val31Ile	rs201753350	missense variant	-	NC_000017.11:g.7676387C>T	UniProt,dbSNP
TP53	P04637	p.Val31Ile	VAR_044554	missense variant	-	NC_000017.11:g.7676387C>T	UniProt
TP53	P04637	p.Leu32CysPheSerTerUnkUnk	COSM5048959	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676385A>-	NCI-TCGA Cosmic
TP53	P04637	p.Ser33PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676271_7676272insA	NCI-TCGA
TP53	P04637	p.Ser33Tyr	rs1555526832	missense variant	-	NC_000017.11:g.7676271G>T	-
TP53	P04637	p.Ser33Tyr	RCV000561224	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676271G>T	ClinVar
TP53	P04637	p.Ser33Ter	RCV000492612	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676272dup	ClinVar
TP53	P04637	p.Ser33Tyr	RCV000819381	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676271G>T	ClinVar
TP53	P04637	p.Ser33Thr	VAR_044555	Missense	-	-	UniProt
TP53	P04637	p.Pro34Arg	RCV000772948	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676268G>C	ClinVar
TP53	P04637	p.Pro34Ala	RCV000165887	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676269G>C	ClinVar
TP53	P04637	p.Pro34Thr	RCV000164526	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676269G>T	ClinVar
TP53	P04637	p.Pro34Thr	rs786201968	missense variant	-	NC_000017.11:g.7676269G>T	-
TP53	P04637	p.Pro34Ala	rs786201968	missense variant	-	NC_000017.11:g.7676269G>C	-
TP53	P04637	p.Pro34Arg	rs1322947350	missense variant	-	NC_000017.11:g.7676268G>C	gnomAD
TP53	P04637	p.Pro34Ala	RCV000483753	missense variant	-	NC_000017.11:g.7676269G>C	ClinVar
TP53	P04637	p.Pro34Ala	RCV000205889	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676269G>C	ClinVar
TP53	P04637	p.Pro34Leu	VAR_044556	Missense	-	-	UniProt
TP53	P04637	p.Leu35Phe	rs121912661	missense variant	-	NC_000017.11:g.7676264C>G	TOPMed,gnomAD
TP53	P04637	p.Leu35Met	RCV000470404	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676266A>T	ClinVar
TP53	P04637	p.Leu35Met	RCV000572574	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676266A>T	ClinVar
TP53	P04637	p.Leu35Phe	RCV000633325	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676264C>G	ClinVar
TP53	P04637	p.Leu35Phe	RCV000481187	missense variant	-	NC_000017.11:g.7676264C>G	ClinVar
TP53	P04637	p.Leu35Phe	RCV000013170	missense variant	Carcinoma of pancreas	NC_000017.11:g.7676264C>A	ClinVar
TP53	P04637	p.Leu35Phe	RCV000131759	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676264C>G	ClinVar
TP53	P04637	p.Leu35PhePheSerTerUnk	COSM27164	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676264_7676265insA	NCI-TCGA Cosmic
TP53	P04637	p.Leu35CysPheSerTerUnk	COSM4612592	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676265A>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu35ProPheSerTerUnkUnk	COSM290545	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676272_7676273insCT	NCI-TCGA Cosmic
TP53	P04637	p.Leu35CysPheSerTerUnk	COSM128679	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676267G>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu35PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676263_7676264GC>-	NCI-TCGA
TP53	P04637	p.Leu35Phe	rs121912661	missense variant	-	NC_000017.11:g.7676264C>A	TOPMed,gnomAD
TP53	P04637	p.Leu35Phe	rs121912661	missense variant	-	NC_000017.11:g.7676264C>A	UniProt,dbSNP
TP53	P04637	p.Leu35Phe	VAR_005852	missense variant	-	NC_000017.11:g.7676264C>A	UniProt
TP53	P04637	p.Leu35Met	rs1060501211	missense variant	-	NC_000017.11:g.7676266A>T	-
TP53	P04637	p.Pro36Leu	rs587781866	missense variant	-	NC_000017.11:g.7676262G>A	UniProt,dbSNP
TP53	P04637	p.Pro36Leu	VAR_044557	missense variant	-	NC_000017.11:g.7676262G>A	UniProt
TP53	P04637	p.Pro36Leu	rs587781866	missense variant	-	NC_000017.11:g.7676262G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro36Gln	RCV000469733	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676262G>T	ClinVar
TP53	P04637	p.Pro36Ser	RCV000161017	missense variant	-	NC_000017.11:g.7676263G>A	ClinVar
TP53	P04637	p.Pro36TrpPheSerTerUnk	COSM111569	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676251_7676263TTGCTTGGGACGG>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro36Gln	RCV000662689	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676262G>T	ClinVar
TP53	P04637	p.Pro36Ser	rs730881993	missense variant	-	NC_000017.11:g.7676263G>A	-
TP53	P04637	p.Pro36Gln	rs587781866	missense variant	-	NC_000017.11:g.7676262G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro36Gln	RCV000213046	missense variant	-	NC_000017.11:g.7676262G>T	ClinVar
TP53	P04637	p.Pro36Gln	RCV000130183	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676262G>T	ClinVar
TP53	P04637	p.Ser37Phe	RCV000688189	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676259G>A	ClinVar
TP53	P04637	p.Ser37ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676236_7676261GCATCAAATCATCCATTGCTTGGGAC>-	NCI-TCGA
TP53	P04637	p.Ser37ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676261C>-	NCI-TCGA
TP53	P04637	p.Ser37Thr	VAR_044559	Missense	-	-	UniProt
TP53	P04637	p.Ser37Pro	VAR_044558	Missense	-	-	UniProt
TP53	P04637	p.Gln38LysPheSerTerUnk	COSM5047932	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676257G>-	NCI-TCGA Cosmic
TP53	P04637	p.Gln38Ter	COSM236889	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676257G>A	NCI-TCGA Cosmic
TP53	P04637	p.Gln38Ter	RCV000544374	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676259del	ClinVar
TP53	P04637	p.Ala39Val	RCV000690309	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676253G>A	ClinVar
TP53	P04637	p.Ala39Val	rs1353016807	missense variant	-	NC_000017.11:g.7676253G>A	TOPMed
TP53	P04637	p.Ala39Val	rs1353016807	missense variant	-	NC_000017.11:g.7676253G>A	UniProt,dbSNP
TP53	P04637	p.Ala39Val	VAR_044561	missense variant	-	NC_000017.11:g.7676253G>A	UniProt
TP53	P04637	p.Ala39Ter	RCV000582613	frameshift	-	NC_000017.11:g.7676252_7676253del	ClinVar
TP53	P04637	p.Ala39Pro	VAR_044560	Missense	-	-	UniProt
TP53	P04637	p.Met40Thr	rs587782877	missense variant	-	NC_000017.11:g.7676250A>G	-
TP53	P04637	p.Met40LeuPheSerTerUnk	COSM1318427	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676251_7676252insCCATCCAG	NCI-TCGA Cosmic
TP53	P04637	p.Met40Thr	RCV000132511	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676250A>G	ClinVar
TP53	P04637	p.Asp41MetPheSerTerUnk	COSM46244	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676248C>-	NCI-TCGA Cosmic
TP53	P04637	p.Asp41Asn	rs1555526789	missense variant	-	NC_000017.11:g.7676248C>T	-
TP53	P04637	p.Asp41Asn	RCV000822098	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676248C>T	ClinVar
TP53	P04637	p.Asp41Asn	RCV000562780	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676248C>T	ClinVar
TP53	P04637	p.Asp42Gly	rs587781767	missense variant	-	NC_000017.11:g.7676244T>C	-
TP53	P04637	p.Asp42IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676245C>-	NCI-TCGA
TP53	P04637	p.Asp42GlyTer	RCV000566048	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676248_7676251dup	ClinVar
TP53	P04637	p.Asp42Asn	rs756847009	missense variant	-	NC_000017.11:g.7676245C>T	ExAC,gnomAD
TP53	P04637	p.Asp42Gly	RCV000129995	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676244T>C	ClinVar
TP53	P04637	p.Asp42Tyr	VAR_044562	Missense	-	-	UniProt
TP53	P04637	p.Leu43Ter	rs1555526777	stop gained	-	NC_000017.11:g.7676241A>T	-
TP53	P04637	p.Leu43Ter	COSM984983	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676241A>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu43AlaPheSerTerUnk	COSM69023	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676238_7676242ATCAA>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu43Ter	RCV000521967	nonsense	-	NC_000017.11:g.7676241A>T	ClinVar
TP53	P04637	p.Leu43Phe	rs754332870	missense variant	-	NC_000017.11:g.7676240C>G	ExAC,gnomAD
TP53	P04637	p.Leu43Ser	VAR_005853	Missense	-	-	UniProt
TP53	P04637	p.Met44IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676237C>-	NCI-TCGA
TP53	P04637	p.Met44ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676226_7676238TCCGGGGACAGCA>-	NCI-TCGA
TP53	P04637	p.Met44Ile	rs1060501190	missense variant	-	NC_000017.11:g.7676237C>T	-
TP53	P04637	p.Met44Ile	RCV000459820	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676237C>T	ClinVar
TP53	P04637	p.Met44Val	VAR_044565	Missense	-	-	UniProt
TP53	P04637	p.Met44Thr	VAR_044564	Missense	-	-	UniProt
TP53	P04637	p.Leu45Pro	rs879254066	missense variant	-	NC_000017.11:g.7676235A>G	-
TP53	P04637	p.Leu45Pro	RCV000235508	missense variant	-	NC_000017.11:g.7676235A>G	ClinVar
TP53	P04637	p.Leu45Met	VAR_044566	Missense	-	-	UniProt
TP53	P04637	p.Ser46Ter	RCV000132061	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676232delinsAC	ClinVar
TP53	P04637	p.Ser46Pro	RCV000218555	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676233A>G	ClinVar
TP53	P04637	p.Ser46Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676204_7676232AGTGAACCATTGTTCAATATCGTCCGGGG>-	NCI-TCGA
TP53	P04637	p.Ser46ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676217_7676233TCAATATCGTCCGGGGA>-	NCI-TCGA
TP53	P04637	p.Ser46Pro	rs876659630	missense variant	-	NC_000017.11:g.7676233A>G	-
TP53	P04637	p.Ser46Pro	rs876659630	missense variant	-	NC_000017.11:g.7676233A>G	UniProt,dbSNP
TP53	P04637	p.Ser46Pro	VAR_044568	missense variant	-	NC_000017.11:g.7676233A>G	UniProt
TP53	P04637	p.Ser46Phe	VAR_044567	Missense	-	-	UniProt
TP53	P04637	p.Pro47Ser	rs1800371	missense variant	-	NC_000017.11:g.7676230G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro47ArgPheSerTerUnkUnk	COSM13161	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676229G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro47Thr	rs1800371	missense variant	-	NC_000017.11:g.7676230G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro47Ser	RCV000036530	missense variant	-	NC_000017.11:g.7676230G>A	ClinVar
TP53	P04637	p.Pro47Thr	RCV000774798	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676230G>T	ClinVar
TP53	P04637	p.Pro47Ter	RCV000696659	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676232del	ClinVar
TP53	P04637	p.Pro47Thr	RCV000463583	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676230G>T	ClinVar
TP53	P04637	p.Pro47Leu	VAR_044569	Missense	-	-	UniProt
TP53	P04637	p.Asp48Glu	RCV000129395	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676225G>T	ClinVar
TP53	P04637	p.Asp48ThrPheSerTerUnkUnk	COSM5688468	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676227C>-	NCI-TCGA Cosmic
TP53	P04637	p.Asp48Asn	COSM2745131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676227C>T	NCI-TCGA Cosmic
TP53	P04637	p.Asp48Glu	RCV000813083	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676225G>T	ClinVar
TP53	P04637	p.Asp48GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676228_7676229insG	NCI-TCGA
TP53	P04637	p.Asp48AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676218_7676227CAATATCGTC>-	NCI-TCGA
TP53	P04637	p.Asp48Glu	rs587781460	missense variant	-	NC_000017.11:g.7676225G>T	TOPMed
TP53	P04637	p.Asp48Gly	VAR_044570	Missense	-	-	UniProt
TP53	P04637	p.Asp49His	rs587780728	missense variant	-	NC_000017.11:g.7676224C>G	UniProt,dbSNP
TP53	P04637	p.Asp49His	VAR_044571	missense variant	-	NC_000017.11:g.7676224C>G	UniProt
TP53	P04637	p.Asp49His	RCV000410497	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676224C>G	ClinVar
TP53	P04637	p.Asp49His	RCV000129275	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676224C>G	ClinVar
TP53	P04637	p.Asp49Asn	RCV000165946	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676224C>T	ClinVar
TP53	P04637	p.Asp49Asn	rs587780728	missense variant	-	NC_000017.11:g.7676224C>T	ExAC,gnomAD
TP53	P04637	p.Asp49SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676209_7676224ACCATTGTTCAATATC>-	NCI-TCGA
TP53	P04637	p.Asp49His	rs587780728	missense variant	-	NC_000017.11:g.7676224C>G	ExAC,gnomAD
TP53	P04637	p.Asp49Asn	rs587780728	missense variant	-	NC_000017.11:g.7676224C>T	UniProt,dbSNP
TP53	P04637	p.Asp49Asn	VAR_044572	missense variant	-	NC_000017.11:g.7676224C>T	UniProt
TP53	P04637	p.Asp49Gly	rs759728549	missense variant	-	NC_000017.11:g.7676223T>C	ExAC,gnomAD
TP53	P04637	p.Asp49Gly	RCV000219898	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676223T>C	ClinVar
TP53	P04637	p.Asp49Gly	RCV000702036	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676223T>C	ClinVar
TP53	P04637	p.Asp49His	RCV000123095	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676224C>G	ClinVar
TP53	P04637	p.Asp49Tyr	VAR_044573	Missense	-	-	UniProt
TP53	P04637	p.Ile50Thr	RCV000662678	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676220A>G	ClinVar
TP53	P04637	p.Ile50Thr	RCV000220760	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676220A>G	ClinVar
TP53	P04637	p.Ile50Thr	rs370502517	missense variant	-	NC_000017.11:g.7676220A>G	ESP,TOPMed
TP53	P04637	p.Ile50Asn	rs370502517	missense variant	-	NC_000017.11:g.7676220A>T	ESP,TOPMed
TP53	P04637	p.Ile50Asn	RCV000633380	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676220A>T	ClinVar
TP53	P04637	p.Ile50Thr	RCV000197538	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676220A>G	ClinVar
TP53	P04637	p.Ile50Asn	RCV000167020	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676220A>T	ClinVar
TP53	P04637	p.Glu51GlyPheSerTerUnk	COSM112062	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676217_7676218insC	NCI-TCGA Cosmic
TP53	P04637	p.Glu51HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676208_7676218AACCATTGTTC>-	NCI-TCGA
TP53	P04637	p.Glu51Ter	RCV000689241	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676218C>A	ClinVar
TP53	P04637	p.Glu51Gly	RCV000700746	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676217T>C	ClinVar
TP53	P04637	p.Gln52Ter	COSM1750375	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676215G>A	NCI-TCGA Cosmic
TP53	P04637	p.Gln52Arg	RCV000562350	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676214T>C	ClinVar
TP53	P04637	p.GlnTrp52GlnTerMetUnk	rs1195793509	stop gained	-	NC_000017.11:g.7676211_7676214dup	gnomAD
TP53	P04637	p.GlnTrp52GlnTerTrp	rs587782609	stop gained	-	NC_000017.11:g.7676212_7676214dup	-
TP53	P04637	p.Gln52Arg	rs774656101	missense variant	-	NC_000017.11:g.7676214T>C	ExAC,gnomAD
TP53	P04637	p.Gln52Ter	RCV000633379	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676213_7676214del	ClinVar
TP53	P04637	p.Gln52Ter	RCV000785248	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676217dup	ClinVar
TP53	P04637	p.Gln52Arg	RCV000227571	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676214T>C	ClinVar
TP53	P04637	p.Gln52His	VAR_044574	Missense	-	-	UniProt
TP53	P04637	p.Trp53Ter	RCV000785268	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676211_7676214dup	ClinVar
TP53	P04637	p.Trp53Ter	RCV000480240	nonsense	-	NC_000017.11:g.7676210C>T	ClinVar
TP53	P04637	p.Trp53Ter	RCV000222677	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676211C>T	ClinVar
TP53	P04637	p.Trp53Ter	COSM1162685	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676210_7676211insCATT	NCI-TCGA Cosmic
TP53	P04637	p.Trp53MetPheSerTerUnk	COSM5079662	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676212_7676213insT	NCI-TCGA Cosmic
TP53	P04637	p.Trp53Ter	RCV000131982	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676212_7676214dup	ClinVar
TP53	P04637	p.Trp53CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676210_7676211insA	NCI-TCGA
TP53	P04637	p.Trp53Ter	RCV000785314	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676211C>T	ClinVar
TP53	P04637	p.Trp53Ter	rs1064794618	stop gained	-	NC_000017.11:g.7676210C>T	-
TP53	P04637	p.Trp53Ter	rs876658483	stop gained	-	NC_000017.11:g.7676211C>T	-
TP53	P04637	p.Trp53Ter	RCV000528831	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676214dup	ClinVar
TP53	P04637	p.Trp53Ter	RCV000693351	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676211C>T	ClinVar
TP53	P04637	p.Trp53Cys	VAR_005854	Missense	-	-	UniProt
TP53	P04637	p.Trp53Gly	VAR_044575	Missense	-	-	UniProt
TP53	P04637	p.Phe54Leu	rs1555526742	missense variant	-	NC_000017.11:g.7676209A>G	UniProt,dbSNP
TP53	P04637	p.Phe54Leu	VAR_044576	missense variant	-	NC_000017.11:g.7676209A>G	UniProt
TP53	P04637	p.Phe54Leu	rs1555526742	missense variant	-	NC_000017.11:g.7676209A>G	-
TP53	P04637	p.Phe54SerPheSerTerUnkUnk	COSM5271791	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676208A>-	NCI-TCGA Cosmic
TP53	P04637	p.Phe54Leu	RCV000571144	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676209A>G	ClinVar
TP53	P04637	p.Phe54Tyr	VAR_044577	Missense	-	-	UniProt
TP53	P04637	p.Glu56LysPheSerTerUnkUnk	COSM5024964	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676203C>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu56Ter	COSM12168	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676203C>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu56LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676204A>-	NCI-TCGA
TP53	P04637	p.Glu56Val	VAR_044579	Missense	-	-	UniProt
TP53	P04637	p.Glu56Lys	VAR_044578	Missense	-	-	UniProt
TP53	P04637	p.Asp57Glu	RCV000411346	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676198G>T	ClinVar
TP53	P04637	p.Asp57Asn	COSM5990594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676200C>T	NCI-TCGA Cosmic
TP53	P04637	p.Asp57Glu	RCV000132310	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676198G>T	ClinVar
TP53	P04637	p.Asp57LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676200_7676201insTT	NCI-TCGA
TP53	P04637	p.Asp57Gly	rs1442824382	missense variant	-	NC_000017.11:g.7676199T>C	gnomAD
TP53	P04637	p.Asp57Glu	rs587782776	missense variant	-	NC_000017.11:g.7676198G>T	TOPMed
TP53	P04637	p.Pro58Arg	rs144386518	missense variant	-	NC_000017.11:g.7676196G>C	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro58Arg	RCV000662515	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676196G>C	ClinVar
TP53	P04637	p.Pro58GlnPheSerTerUnkUnk	COSM2745096	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676196G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro58Gln	VAR_044580	Missense	-	-	UniProt
TP53	P04637	p.Pro58Thr	VAR_044581	Missense	-	-	UniProt
TP53	P04637	p.Gly59Ter	RCV000785292	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676194del	ClinVar
TP53	P04637	p.Gly59Cys	rs1237722021	missense variant	-	NC_000017.11:g.7676194C>A	gnomAD
TP53	P04637	p.Gly59Asn	VAR_045783	Missense	-	-	UniProt
TP53	P04637	p.Gly59Asp	VAR_044583	Missense	-	-	UniProt
TP53	P04637	p.Pro60GlnPheSerTerUnkUnk	COSM295960	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676190G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro60Leu	VAR_044584	Missense	-	-	UniProt
TP53	P04637	p.Pro60Ser	VAR_005855	Missense	-	-	UniProt
TP53	P04637	p.Pro60Gln	VAR_044585	Missense	-	-	UniProt
TP53	P04637	p.Asp61Gly	rs1460793472	missense variant	-	NC_000017.11:g.7676187T>C	TOPMed,gnomAD
TP53	P04637	p.Asp61Gly	rs1460793472	missense variant	-	NC_000017.11:g.7676187T>C	UniProt,dbSNP
TP53	P04637	p.Asp61Gly	VAR_044586	missense variant	-	NC_000017.11:g.7676187T>C	UniProt
TP53	P04637	p.Asp61Ter	COSM984979	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676187_7676188TC>-	NCI-TCGA Cosmic
TP53	P04637	p.Asp61Asn	VAR_044587	Missense	-	-	UniProt
TP53	P04637	p.Glu62Lys	COSM116688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676185C>T	NCI-TCGA Cosmic
TP53	P04637	p.Glu62LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676185C>-	NCI-TCGA
TP53	P04637	p.Glu62Ter	RCV000754578	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676185C>A	ClinVar
TP53	P04637	p.Glu62Asp	VAR_044588	Missense	-	-	UniProt
TP53	P04637	p.Ala63Gly	rs372201428	missense variant	-	NC_000017.11:g.7676181G>C	ExAC,gnomAD
TP53	P04637	p.Ala63Gly	RCV000614877	missense variant	-	NC_000017.11:g.7676181G>C	ClinVar
TP53	P04637	p.Ala63Val	RCV000663264	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676181G>A	ClinVar
TP53	P04637	p.Ala63Gly	RCV000216082	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676181G>C	ClinVar
TP53	P04637	p.Ala63Val	RCV000467874	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676181G>A	ClinVar
TP53	P04637	p.Ala63Thr	rs876658902	missense variant	-	NC_000017.11:g.7676182C>T	-
TP53	P04637	p.Ala63Thr	rs876658902	missense variant	-	NC_000017.11:g.7676182C>T	UniProt,dbSNP
TP53	P04637	p.Ala63Thr	VAR_044589	missense variant	-	NC_000017.11:g.7676182C>T	UniProt
TP53	P04637	p.Ala63Val	rs372201428	missense variant	-	NC_000017.11:g.7676181G>A	ExAC,gnomAD
TP53	P04637	p.Ala63Val	rs372201428	missense variant	-	NC_000017.11:g.7676181G>A	UniProt,dbSNP
TP53	P04637	p.Ala63Val	VAR_044590	missense variant	-	NC_000017.11:g.7676181G>A	UniProt
TP53	P04637	p.Ala63Val	RCV000161018	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676181G>A	ClinVar
TP53	P04637	p.Ala63Gly	RCV000587780	missense variant	-	NC_000017.11:g.7676181G>C	ClinVar
TP53	P04637	p.Ala63Val	RCV000213047	missense variant	-	NC_000017.11:g.7676181G>A	ClinVar
TP53	P04637	p.Ala63Gly	RCV000465288	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676181G>C	ClinVar
TP53	P04637	p.Ala63Thr	RCV000213479	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676182C>T	ClinVar
TP53	P04637	p.Pro64Thr	COSM4866240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676179G>T	NCI-TCGA Cosmic
TP53	P04637	p.Pro64Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7676179G>A	NCI-TCGA
TP53	P04637	p.Pro64GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676179_7676180GA>-	NCI-TCGA
TP53	P04637	p.Arg65Thr	RCV000471826	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676175C>G	ClinVar
TP53	P04637	p.Arg65GluPheSerTerUnkUnk	COSM5752247	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676177G>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg65GlnPheSerTerUnkUnk	COSM1159553	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676176_7676177insG	NCI-TCGA Cosmic
TP53	P04637	p.Arg65Thr	rs1060501210	missense variant	-	NC_000017.11:g.7676175C>G	-
TP53	P04637	p.Arg65Ter	RCV000785253	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676176T>A	ClinVar
TP53	P04637	p.Met66Ile	rs1555526711	missense variant	-	NC_000017.11:g.7676171C>T	UniProt,dbSNP
TP53	P04637	p.Met66Ile	VAR_044592	missense variant	-	NC_000017.11:g.7676171C>T	UniProt
TP53	P04637	p.Met66Ile	rs1555526711	missense variant	-	NC_000017.11:g.7676171C>T	-
TP53	P04637	p.Met66IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676171_7676172insATTCTGGG	NCI-TCGA
TP53	P04637	p.Met66Ile	RCV000565744	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676171C>T	ClinVar
TP53	P04637	p.Met66Arg	VAR_044593	Missense	-	-	UniProt
TP53	P04637	p.Pro67Ser	COSM44199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676170G>A	NCI-TCGA Cosmic
TP53	P04637	p.Pro67ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676153_7676169GGGGGGAGCAGCCTCTG>-	NCI-TCGA
TP53	P04637	p.Pro67Gln	rs1555526709	missense variant	-	NC_000017.11:g.7676169G>T	-
TP53	P04637	p.Pro67Gln	RCV000633377	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676169G>T	ClinVar
TP53	P04637	p.Pro67Leu	VAR_044594	Missense	-	-	UniProt
TP53	P04637	p.Pro67Arg	VAR_044595	Missense	-	-	UniProt
TP53	P04637	p.Pro67Ser	VAR_044596	Missense	-	-	UniProt
TP53	P04637	p.Glu68Gln	RCV000580822	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676167C>G	ClinVar
TP53	P04637	p.Glu68Ter	RCV000210192	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676167C>A	ClinVar
TP53	P04637	p.Glu68Gln	VAR_044598	Missense	-	-	UniProt
TP53	P04637	p.Glu68Gly	VAR_044597	Missense	-	-	UniProt
TP53	P04637	p.Ala69Gly	rs756233241	missense variant	-	NC_000017.11:g.7676163G>C	UniProt,dbSNP
TP53	P04637	p.Ala69Gly	VAR_044600	missense variant	-	NC_000017.11:g.7676163G>C	UniProt
TP53	P04637	p.Ala69Gly	RCV000222309	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676163G>C	ClinVar
TP53	P04637	p.Ala69Thr	RCV000698086	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676164C>T	ClinVar
TP53	P04637	p.Ala69GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676163_7676164insC	NCI-TCGA
TP53	P04637	p.Ala69Val	rs756233241	missense variant	-	NC_000017.11:g.7676163G>A	UniProt,dbSNP
TP53	P04637	p.Ala69Val	VAR_044602	missense variant	-	NC_000017.11:g.7676163G>A	UniProt
TP53	P04637	p.Ala69Val	RCV000633366	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676163G>A	ClinVar
TP53	P04637	p.Ala69Thr	VAR_044601	Missense	-	-	UniProt
TP53	P04637	p.Ala69Asp	VAR_044599	Missense	-	-	UniProt
TP53	P04637	p.Ala70Thr	COSM44736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676161C>T	NCI-TCGA Cosmic
TP53	P04637	p.Ala70Val	RCV000774900	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676160G>A	ClinVar
TP53	P04637	p.Ala70Thr	VAR_044603	Missense	-	-	UniProt
TP53	P04637	p.Pro71Arg	RCV000230713	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676157G>C	ClinVar
TP53	P04637	p.Pro71Leu	COSM5926982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676157G>A	NCI-TCGA Cosmic
TP53	P04637	p.Pro71Ala	RCV000700185	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676158G>C	ClinVar
TP53	P04637	p.Pro71Arg	rs878854065	missense variant	-	NC_000017.11:g.7676157G>C	-
TP53	P04637	p.Pro71Ser	RCV000693744	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676158G>A	ClinVar
TP53	P04637	p.Pro71Ser	RCV000771703	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676158G>A	ClinVar
TP53	P04637	p.Pro71Thr	VAR_044604	Missense	-	-	UniProt
TP53	P04637	p.Pro72His	rs1042522	missense variant	-	NC_000017.11:g.7676154G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Arg	rs1042522	missense variant	-	NC_000017.11:g.7676154G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Arg	RCV000132165	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72Ter	RCV000492601	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676154_7676155insC	ClinVar
TP53	P04637	p.Pro72Arg	RCV000144668	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72Arg	RCV000079202	missense variant	-	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72Arg	RCV000034639	missense variant	-	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72His	RCV000164487	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676154G>T	ClinVar
TP53	P04637	p.Pro72Arg	RCV000300782	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72Thr	RCV000223537	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676155G>T	ClinVar
TP53	P04637	p.Pro72Ala	RCV000409340	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676155G>C	ClinVar
TP53	P04637	p.Pro72Cys	RCV000554325	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676154_7676155delinsCA	ClinVar
TP53	P04637	p.Pro72Cys	RCV000161055	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676154_7676155delinsCA	ClinVar
TP53	P04637	p.Pro72Ala	RCV000473980	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676155G>C	ClinVar
TP53	P04637	p.Pro72Ala	RCV000132297	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676155G>C	ClinVar
TP53	P04637	p.Pro72Ser	RCV000573116	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676155G>A	ClinVar
TP53	P04637	p.Pro72Ser	rs587782769	missense variant	-	NC_000017.11:g.7676155G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Arg	rs1042522	missense variant	-	NC_000017.11:g.7676154G>C	UniProt,dbSNP
TP53	P04637	p.Pro72Arg	VAR_005856	missense variant	-	NC_000017.11:g.7676154G>C	UniProt
TP53	P04637	p.Pro72Cys	RCV000587915	missense variant	-	NC_000017.11:g.7676154_7676155delinsCA	ClinVar
TP53	P04637	p.Pro72Arg	RCV000233585	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676153_7676154delinsAC	ClinVar
TP53	P04637	p.Pro72Arg	rs878854066	missense variant	-	NC_000017.11:g.7676153_7676154delinsAC	-
TP53	P04637	p.Pro72His	rs1042522	missense variant	-	NC_000017.11:g.7676154G>T	UniProt,dbSNP
TP53	P04637	p.Pro72His	VAR_045786	missense variant	-	NC_000017.11:g.7676154G>T	UniProt
TP53	P04637	p.Pro72Thr	rs587782769	missense variant	-	NC_000017.11:g.7676155G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Ala	rs587782769	missense variant	-	NC_000017.11:g.7676155G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Cys	RCV000410841	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676154_7676155delinsCA	ClinVar
TP53	P04637	p.Pro72Ala	RCV000478624	missense variant	-	NC_000017.11:g.7676155G>C	ClinVar
TP53	P04637	p.Pro72Arg	RCV000013144	missense variant	CODON 72 POLYMORPHISM	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72His	RCV000227427	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676154G>T	ClinVar
TP53	P04637	p.Pro72Cys	rs730882014	missense variant	-	NC_000017.11:g.7676154_7676155delinsCA	-
TP53	P04637	p.Pro72Arg	RCV000780780	missense variant	-	NC_000017.11:g.7676153_7676154delinsAC	ClinVar
TP53	P04637	p.Pro72Leu	VAR_045787	Missense	-	-	UniProt
TP53	P04637	p.Pro72Gly	VAR_045785	Missense	-	-	UniProt
TP53	P04637	p.Val73Met	RCV000553568	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676152C>T	ClinVar
TP53	P04637	p.Val73Ter	RCV000785475	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676158del	ClinVar
TP53	P04637	p.Val73TrpPheSerTerUnkUnk	COSM1268331	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676153G>-	NCI-TCGA Cosmic
TP53	P04637	p.Val73Ter	RCV000161059	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676158dup	ClinVar
TP53	P04637	p.Val73Ter	RCV000538223	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676158dup	ClinVar
TP53	P04637	p.Val73Ter	RCV000492385	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676158del	ClinVar
TP53	P04637	p.Val73Ter	RCV000013157	frameshift	Li-Fraumeni-like syndrome (LFL)	NC_000017.11:g.7676158dup	ClinVar
TP53	P04637	p.Val73Met	rs587782423	missense variant	-	NC_000017.11:g.7676152C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Val73Met	rs587782423	missense variant	-	NC_000017.11:g.7676152C>T	UniProt,dbSNP
TP53	P04637	p.Val73Met	VAR_044607	missense variant	-	NC_000017.11:g.7676152C>T	UniProt
TP53	P04637	p.Val73ArgPheSerTerUnkUnk	rs730882018	frameshift	-	NC_000017.11:g.7676152_7676153insG	NCI-TCGA,NCI-TCGA Cosmic
TP53	P04637	p.Val73Leu	VAR_044606	Missense	-	-	UniProt
TP53	P04637	p.Val73Glu	VAR_044605	Missense	-	-	UniProt
TP53	P04637	p.Ala74Val	RCV000130119	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676148G>A	ClinVar
TP53	P04637	p.Ala74Val	rs587781832	missense variant	-	NC_000017.11:g.7676148G>A	ExAC,gnomAD
TP53	P04637	p.Ala74Val	RCV000487230	missense variant	-	NC_000017.11:g.7676148G>A	ClinVar
TP53	P04637	p.Ala74Val	RCV000816275	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676148G>A	ClinVar
TP53	P04637	p.Ala74Thr	VAR_044608	Missense	-	-	UniProt
TP53	P04637	p.Pro75LeuPheSerTerUnkUnk	COSM166227	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676145G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro75Arg	VAR_044610	Missense	-	-	UniProt
TP53	P04637	p.Pro75Leu	VAR_044609	Missense	-	-	UniProt
TP53	P04637	p.Pro75Ser	VAR_044611	Missense	-	-	UniProt
TP53	P04637	p.Ala76HisPheSerTerUnkUnk	COSM69022	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676144A>-	NCI-TCGA Cosmic
TP53	P04637	p.Ala76Glu	rs1235781676	missense variant	-	NC_000017.11:g.7676142G>T	gnomAD
TP53	P04637	p.Ala76HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676143C>-	NCI-TCGA
TP53	P04637	p.Ala76Ter	RCV000785450	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676148dup	ClinVar
TP53	P04637	p.Ala76Ter	RCV000492268	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676099_7676151del	ClinVar
TP53	P04637	p.Ala76Thr	VAR_044613	Missense	-	-	UniProt
TP53	P04637	p.Ala76Gly	VAR_044612	Missense	-	-	UniProt
TP53	P04637	p.Pro77Ser	rs753085009	missense variant	-	NC_000017.11:g.7676140G>A	ExAC,gnomAD
TP53	P04637	p.Pro77Leu	COSM6082218	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676139G>A	NCI-TCGA Cosmic
TP53	P04637	p.Pro77CysPheSerTerUnkUnk	COSM5833437	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676140_7676141insTGCA	NCI-TCGA Cosmic
TP53	P04637	p.Pro77Ser	RCV000633383	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676140G>A	ClinVar
TP53	P04637	p.Pro77GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676122_7676141CCGGTGTAGGAGCTGCTGGT>-	NCI-TCGA
TP53	P04637	p.Pro77Thr	rs753085009	missense variant	-	NC_000017.11:g.7676140G>T	ExAC,gnomAD
TP53	P04637	p.Pro77Thr	RCV000546598	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676140G>T	ClinVar
TP53	P04637	p.Pro77Thr	RCV000563835	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676140G>T	ClinVar
TP53	P04637	p.Pro77Ala	VAR_044614	Missense	-	-	UniProt
TP53	P04637	p.Ala78Pro	NCI-TCGA novel	insertion	-	NC_000017.11:g.7676135_7676136insGGG	NCI-TCGA
TP53	P04637	p.Ala78Thr	RCV000573984	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676137C>T	ClinVar
TP53	P04637	p.Ala78Gly	rs876658527	missense variant	-	NC_000017.11:g.7676136G>C	TOPMed,gnomAD
TP53	P04637	p.Ala78Thr	rs1555526673	missense variant	-	NC_000017.11:g.7676137C>T	-
TP53	P04637	p.Ala78Gly	RCV000552207	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676136G>C	ClinVar
TP53	P04637	p.Ala78Gly	RCV000219512	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676136G>C	ClinVar
TP53	P04637	p.Ala78Val	VAR_044615	Missense	-	-	UniProt
TP53	P04637	p.Ala79Val	COSM1386920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676133G>A	NCI-TCGA Cosmic
TP53	P04637	p.Ala79SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676134_7676135CT>-	NCI-TCGA
TP53	P04637	p.Ala79ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676123_7676135CGGTGTAGGAGCT>-	NCI-TCGA
TP53	P04637	p.Ala79Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7676134C>G	NCI-TCGA
TP53	P04637	p.Ala79Gly	VAR_044616	Missense	-	-	UniProt
TP53	P04637	p.Ala79Val	VAR_044617	Missense	-	-	UniProt
TP53	P04637	p.Ala79Thr	VAR_005857	Missense	-	-	UniProt
TP53	P04637	p.Pro80Ser	RCV000566683	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676131G>A	ClinVar
TP53	P04637	p.Pro80Ser	RCV000477161	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676131G>A	ClinVar
TP53	P04637	p.Pro80SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676132_7676133insG	NCI-TCGA
TP53	P04637	p.Pro80Ser	rs1060501204	missense variant	-	NC_000017.11:g.7676131G>A	-
TP53	P04637	p.Pro80Leu	VAR_044618	Missense	-	-	UniProt
TP53	P04637	p.Thr81Ile	RCV000707346	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676127G>A	ClinVar
TP53	P04637	p.Thr81Ile	VAR_044620	Missense	-	-	UniProt
TP53	P04637	p.Pro82Arg	RCV000545821	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676124G>C	ClinVar
TP53	P04637	p.Pro82ArgPheSerTerUnkUnk	COSM4603762	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676124G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro82Leu	RCV000213048	missense variant	-	NC_000017.11:g.7676124G>A	ClinVar
TP53	P04637	p.Pro82Leu	RCV000205955	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676124G>A	ClinVar
TP53	P04637	p.Pro82Arg	rs534447939	missense variant	-	NC_000017.11:g.7676124G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro82Ala	rs1555526664	missense variant	-	NC_000017.11:g.7676125G>C	-
TP53	P04637	p.Pro82Leu	rs534447939	missense variant	-	NC_000017.11:g.7676124G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro82Leu	rs534447939	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676124G>A	UniProt,dbSNP
TP53	P04637	p.Pro82Leu	VAR_044621	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676124G>A	UniProt
TP53	P04637	p.Pro82Ala	RCV000573848	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676125G>C	ClinVar
TP53	P04637	p.Pro82Ser	VAR_044622	Missense	-	-	UniProt
TP53	P04637	p.Ala83Val	rs201717599	missense variant	-	NC_000017.11:g.7676121G>A	UniProt,dbSNP
TP53	P04637	p.Ala83Val	VAR_044624	missense variant	-	NC_000017.11:g.7676121G>A	UniProt
TP53	P04637	p.Ala83Ter	RCV000492289	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676121_7676122del	ClinVar
TP53	P04637	p.Ala83Glu	RCV000130694	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676121G>T	ClinVar
TP53	P04637	p.Ala83Val	RCV000409540	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676121G>A	ClinVar
TP53	P04637	p.Ala83Ter	RCV000785483	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676118_7676125del	ClinVar
TP53	P04637	p.Ala83Ter	RCV000657303	frameshift	-	NC_000017.11:g.7676114_7676123del	ClinVar
TP53	P04637	p.Ala83GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676121_7676122insC	NCI-TCGA
TP53	P04637	p.Ala83Glu	rs201717599	missense variant	-	NC_000017.11:g.7676121G>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ala83Glu	rs201717599	missense variant	-	NC_000017.11:g.7676121G>T	UniProt,dbSNP
TP53	P04637	p.Ala83Glu	VAR_044623	missense variant	-	NC_000017.11:g.7676121G>T	UniProt
TP53	P04637	p.Ala83Val	rs201717599	missense variant	-	NC_000017.11:g.7676121G>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ala83Val	RCV000679367	missense variant	-	NC_000017.11:g.7676121G>A	ClinVar
TP53	P04637	p.Ala83Ter	RCV000785281	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676123del	ClinVar
TP53	P04637	p.Ala84Thr	RCV000759372	missense variant	-	NC_000017.11:g.7676119C>T	ClinVar
TP53	P04637	p.Ala84ProPheSerTerUnkUnk	COSM5639468	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676119C>-	NCI-TCGA Cosmic
TP53	P04637	p.Ala84Thr	RCV000462026	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676119C>T	ClinVar
TP53	P04637	p.Ala84Thr	RCV000129026	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676119C>T	ClinVar
TP53	P04637	p.Ala84Thr	rs587781307	missense variant	-	NC_000017.11:g.7676119C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Ala84Thr	RCV000409852	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676119C>T	ClinVar
TP53	P04637	p.Ala84Gly	VAR_044625	Missense	-	-	UniProt
TP53	P04637	p.Ala84Val	VAR_044626	Missense	-	-	UniProt
TP53	P04637	p.Pro85LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676115G>-	NCI-TCGA
TP53	P04637	p.Pro85Ter	RCV000486807	frameshift	-	NC_000017.11:g.7676118del	ClinVar
TP53	P04637	p.Pro85Leu	VAR_044627	Missense	-	-	UniProt
TP53	P04637	p.Pro85Ser	VAR_044628	Missense	-	-	UniProt
TP53	P04637	p.Ala86ProPheSerTerUnkUnk	COSM69021	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676105_7676114GGCTGGTGCA>-	NCI-TCGA Cosmic
TP53	P04637	p.Ala86CysPheSerTerUnkUnk	COSM1480096	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676114_7676115insG	NCI-TCGA Cosmic
TP53	P04637	p.Ala86ValPheSerTerUnkUnk	COSM5546781	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676090_7676112CAGGGGCCAGGAGGGGGCTGGTG>-	NCI-TCGA Cosmic
TP53	P04637	p.Ala86Thr	RCV000478688	missense variant	-	NC_000017.11:g.7676113C>T	ClinVar
TP53	P04637	p.Ala86Ter	RCV000365382	frameshift	-	NC_000017.11:g.7676098_7676120del	ClinVar
TP53	P04637	p.Ala86Thr	rs587782148	missense variant	-	NC_000017.11:g.7676113C>T	-
TP53	P04637	p.Ala86Thr	RCV000633343	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676113C>T	ClinVar
TP53	P04637	p.Ala86Ter	RCV000709410	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676098_7676120del	ClinVar
TP53	P04637	p.Ala86Val	VAR_044629	Missense	-	-	UniProt
TP53	P04637	p.Pro87Ter	RCV000785459	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676100_7676110del	ClinVar
TP53	P04637	p.Pro87Gln	VAR_005858	Missense	-	-	UniProt
TP53	P04637	p.Ala88Val	RCV000565147	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676106G>A	ClinVar
TP53	P04637	p.Ala88Val	rs1555526631	missense variant	-	NC_000017.11:g.7676106G>A	-
TP53	P04637	p.Ala88Val	rs1555526631	missense variant	-	NC_000017.11:g.7676106G>A	UniProt,dbSNP
TP53	P04637	p.Ala88Val	VAR_044631	missense variant	-	NC_000017.11:g.7676106G>A	UniProt
TP53	P04637	p.Ala88Pro	RCV000773977	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676107C>G	ClinVar
TP53	P04637	p.Ala88Thr	VAR_044630	Missense	-	-	UniProt
TP53	P04637	p.Pro89Leu	RCV000560488	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676103G>A	ClinVar
TP53	P04637	p.Pro89Leu	RCV000161019	missense variant	-	NC_000017.11:g.7676103G>A	ClinVar
TP53	P04637	p.Pro89Leu	rs730881994	missense variant	-	NC_000017.11:g.7676103G>A	-
TP53	P04637	p.Pro89Ser	VAR_044633	Missense	-	-	UniProt
TP53	P04637	p.Ser90Ter	RCV000144663	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676106del	ClinVar
TP53	P04637	p.Ser90ProPheSerTerUnkUnk	COSM5211825	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676101A>-	NCI-TCGA Cosmic
TP53	P04637	p.Ser90ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676101_7676102insGG	NCI-TCGA
TP53	P04637	p.Ser90ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676092_7676102GGGGCCAGGAG>-	NCI-TCGA
TP53	P04637	p.Ser90PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676084_7676100AGATGACAGGGGCCAGG>-	NCI-TCGA
TP53	P04637	p.Ser90Phe	rs1555526625	missense variant	-	NC_000017.11:g.7676100G>A	-
TP53	P04637	p.Ser90Phe	rs1555526625	missense variant	-	NC_000017.11:g.7676100G>A	UniProt,dbSNP
TP53	P04637	p.Ser90Phe	VAR_044634	missense variant	-	NC_000017.11:g.7676100G>A	UniProt
TP53	P04637	p.Ser90ProPheSerTerUnkUnk	rs587783062	frameshift	-	NC_000017.11:g.7676102G>-	NCI-TCGA,NCI-TCGA Cosmic
TP53	P04637	p.Ser90Phe	RCV000633387	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676100G>A	ClinVar
TP53	P04637	p.Ser90Ter	RCV000785494	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676106dup	ClinVar
TP53	P04637	p.Ser90Tyr	VAR_044635	Missense	-	-	UniProt
TP53	P04637	p.Trp91Ter	RCV000479803	frameshift	-	NC_000017.11:g.7676094_7676100del	ClinVar
TP53	P04637	p.Trp91Ter	COSM323933	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676097C>T	NCI-TCGA Cosmic
TP53	P04637	p.Trp91Ter	rs876660548	stop gained	-	NC_000017.11:g.7676096C>T	-
TP53	P04637	p.Trp91Ter	RCV000785284	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676096C>T	ClinVar
TP53	P04637	p.Trp91Ter	RCV000220815	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676096C>T	ClinVar
TP53	P04637	p.Trp91Ter	RCV000657656	nonsense	-	NC_000017.11:g.7676096C>T	ClinVar
TP53	P04637	p.Trp91Ter	RCV000233967	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676096C>T	ClinVar
TP53	P04637	p.Trp91Cys	VAR_044636	Missense	-	-	UniProt
TP53	P04637	p.Pro92Leu	RCV000566433	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676094G>A	ClinVar
TP53	P04637	p.Pro92Leu	RCV000811514	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676094G>A	ClinVar
TP53	P04637	p.Pro92AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676095_7676096insC	NCI-TCGA
TP53	P04637	p.Pro92Leu	rs1210700121	missense variant	-	NC_000017.11:g.7676094G>A	gnomAD
TP53	P04637	p.Pro92Leu	rs1210700121	missense variant	-	NC_000017.11:g.7676094G>A	UniProt,dbSNP
TP53	P04637	p.Pro92Leu	VAR_044638	missense variant	-	NC_000017.11:g.7676094G>A	UniProt
TP53	P04637	p.Pro92Ser	VAR_044639	Missense	-	-	UniProt
TP53	P04637	p.Pro92Ala	VAR_044637	Missense	-	-	UniProt
TP53	P04637	p.Leu93ValPheSerTerUnkUnk	COSM5833432	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676091_7676092AG>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu93Ter	RCV000785287	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676091del	ClinVar
TP53	P04637	p.Leu93Ter	RCV000785294	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676095del	ClinVar
TP53	P04637	p.Leu93Met	VAR_044640	Missense	-	-	UniProt
TP53	P04637	p.Leu93Pro	VAR_044641	Missense	-	-	UniProt
TP53	P04637	p.Ser94CysPheSerTerUnkUnk	COSM1564166	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676088_7676089insAC	NCI-TCGA Cosmic
TP53	P04637	p.Ser94Ter	COSM2745056	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676088G>C	NCI-TCGA Cosmic
TP53	P04637	p.Ser94Ter	COSM1386891	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676088G>T	NCI-TCGA Cosmic
TP53	P04637	p.Ser94Leu	VAR_044642	Missense	-	-	UniProt
TP53	P04637	p.Ser94Thr	VAR_005859	Missense	-	-	UniProt
TP53	P04637	p.Ser95Ter	RCV000785322	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676082_7676086del	ClinVar
TP53	P04637	p.Ser95Phe	VAR_044643	Missense	-	-	UniProt
TP53	P04637	p.Ser95Thr	VAR_044644	Missense	-	-	UniProt
TP53	P04637	p.Ser96PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676076_7676082GGGACAG>-	NCI-TCGA
TP53	P04637	p.Ser96Pro	VAR_044647	Missense	-	-	UniProt
TP53	P04637	p.Ser96Cys	VAR_044645	Missense	-	-	UniProt
TP53	P04637	p.Ser96Phe	VAR_044646	Missense	-	-	UniProt
TP53	P04637	p.Val97Ile	rs730882023	missense variant	-	NC_000017.11:g.7676080C>T	gnomAD
TP53	P04637	p.Val97Leu	RCV000161064	missense variant	-	NC_000017.11:g.7676080C>G	ClinVar
TP53	P04637	p.Val97SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676081A>-	NCI-TCGA
TP53	P04637	p.Val97GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676071_7676081GGGAAGGGACA>-	NCI-TCGA
TP53	P04637	p.Val97SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676080C>-	NCI-TCGA
TP53	P04637	p.Val97Phe	RCV000545045	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676080C>A	ClinVar
TP53	P04637	p.Val97Phe	rs730882023	missense variant	-	NC_000017.11:g.7676080C>A	gnomAD
TP53	P04637	p.Val97Leu	rs730882023	missense variant	-	NC_000017.11:g.7676080C>G	gnomAD
TP53	P04637	p.Val97Asp	rs730881995	missense variant	-	NC_000017.11:g.7676079A>T	-
TP53	P04637	p.Val97Asp	RCV000161020	missense variant	-	NC_000017.11:g.7676079A>T	ClinVar
TP53	P04637	p.Val97Phe	VAR_044649	Missense	-	-	UniProt
TP53	P04637	p.Val97Ala	VAR_044648	Missense	-	-	UniProt
TP53	P04637	p.Pro98Leu	RCV000633328	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676076G>A	ClinVar
TP53	P04637	p.Pro98LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676076G>-	NCI-TCGA
TP53	P04637	p.Pro98AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676077_7676078insC	NCI-TCGA
TP53	P04637	p.Pro98Leu	rs1245723119	missense variant	-	NC_000017.11:g.7676076G>A	gnomAD
TP53	P04637	p.Pro98Leu	rs1245723119	missense variant	-	NC_000017.11:g.7676076G>A	UniProt,dbSNP
TP53	P04637	p.Pro98Leu	VAR_044651	missense variant	-	NC_000017.11:g.7676076G>A	UniProt
TP53	P04637	p.Pro98Ser	VAR_044652	Missense	-	-	UniProt
TP53	P04637	p.Ser99Ter	RCV000161056	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676074_7676077del	ClinVar
TP53	P04637	p.Ser99Phe	RCV000702643	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676073G>A	ClinVar
TP53	P04637	p.Ser99Cys	RCV000686905	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676073G>C	ClinVar
TP53	P04637	p.Ser99Ter	RCV000633340	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676075del	ClinVar
TP53	P04637	p.Ser99ArgPheSerTerUnkUnk	rs730882015	frameshift	-	NC_000017.11:g.7676072_7676075GGAA>-	NCI-TCGA,NCI-TCGA Cosmic
TP53	P04637	p.Ser99Phe	VAR_044653	Missense	-	-	UniProt
TP53	P04637	p.Ser99Pro	VAR_044654	Missense	-	-	UniProt
TP53	P04637	p.Gln100Ter	RCV000785260	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676073del	ClinVar
TP53	P04637	p.Gln100Ter	RCV000785339	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676071G>A	ClinVar
TP53	P04637	p.Gln100Arg	VAR_044655	Missense	-	-	UniProt
TP53	P04637	p.Lys101Asn	rs878854069	missense variant	-	NC_000017.11:g.7676066T>A	UniProt,dbSNP
TP53	P04637	p.Lys101Asn	VAR_044656	missense variant	-	NC_000017.11:g.7676066T>A	UniProt
TP53	P04637	p.Lys101Asn	rs878854069	missense variant	-	NC_000017.11:g.7676066T>A	-
TP53	P04637	p.Lys101Glu	rs1373046761	missense variant	-	NC_000017.11:g.7676068T>C	TOPMed
TP53	P04637	p.Lys101Asn	RCV000234638	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676066T>A	ClinVar
TP53	P04637	p.Lys101Ter	COSM2745038	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676068T>A	NCI-TCGA Cosmic
TP53	P04637	p.Lys101Asn	RCV000776369	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676066T>A	ClinVar
TP53	P04637	p.Lys101Arg	VAR_044657	Missense	-	-	UniProt
TP53	P04637	p.Thr102Ile	RCV000819967	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676064G>A	ClinVar
TP53	P04637	p.Thr102ProPheSerTerUnkUnk	COSM45766	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676065T>-	NCI-TCGA Cosmic
TP53	P04637	p.Thr102Ser	RCV000771730	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676065T>A	ClinVar
TP53	P04637	p.Thr102Ile	rs786202717	missense variant	-	NC_000017.11:g.7676064G>A	-
TP53	P04637	p.Thr102Ile	rs786202717	missense variant	-	NC_000017.11:g.7676064G>A	UniProt,dbSNP
TP53	P04637	p.Thr102Ile	VAR_044658	missense variant	-	NC_000017.11:g.7676064G>A	UniProt
TP53	P04637	p.Thr102Ser	RCV000706015	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676065T>A	ClinVar
TP53	P04637	p.Thr102Ile	RCV000165667	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676064G>A	ClinVar
TP53	P04637	p.Tyr103His	rs1555526589	missense variant	-	NC_000017.11:g.7676062A>G	-
TP53	P04637	p.Tyr103ThrPheSerTerUnkUnk	COSM1716938	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676063G>-	NCI-TCGA Cosmic
TP53	P04637	p.Tyr103Ter	COSM1645399	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676060G>C	NCI-TCGA Cosmic
TP53	P04637	p.Tyr103Ter	COSM1646882	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676060G>T	NCI-TCGA Cosmic
TP53	P04637	p.Tyr103LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676061_7676062insA	NCI-TCGA
TP53	P04637	p.Tyr103ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676062A>-	NCI-TCGA
TP53	P04637	p.Tyr103His	RCV000559575	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676062A>G	ClinVar
TP53	P04637	p.Gln104Ter	RCV000785246	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676060del	ClinVar
TP53	P04637	p.Gln104Ter	RCV000570916	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676040_7676059del	ClinVar
TP53	P04637	p.Gln104ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676059_7676060insGT	NCI-TCGA
TP53	P04637	p.Gln104Ter	RCV000785541	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676059G>A	ClinVar
TP53	P04637	p.Gln104Ter	RCV000686865	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676059G>A	ClinVar
TP53	P04637	p.Gln104His	VAR_044659	Missense	-	-	UniProt
TP53	P04637	p.Gln104Leu	VAR_044660	Missense	-	-	UniProt
TP53	P04637	p.Gly105Ser	RCV000492331	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676056C>T	ClinVar
TP53	P04637	p.Gly105Arg	RCV000492606	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676056C>G	ClinVar
TP53	P04637	p.Gly105Cys	COSM338570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676056C>A	NCI-TCGA Cosmic
TP53	P04637	p.Gly105Val	RCV000785342	missense variant	Ovarian Neoplasms	NC_000017.11:g.7676055C>A	ClinVar
TP53	P04637	p.Gly105Asp	rs587781504	missense variant	-	NC_000017.11:g.7676055C>T	TOPMed,gnomAD
TP53	P04637	p.Gly105Ter	RCV000727568	frameshift	-	NC_000017.11:g.7676057del	ClinVar
TP53	P04637	p.Gly105Arg	rs1060501195	missense variant	-	NC_000017.11:g.7676056C>G	-
TP53	P04637	p.Gly105Asp	rs587781504	missense variant	-	NC_000017.11:g.7676055C>T	UniProt,dbSNP
TP53	P04637	p.Gly105Asp	VAR_044662	missense variant	-	NC_000017.11:g.7676055C>T	UniProt
TP53	P04637	p.Gly105Asp	RCV000228756	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676055C>T	ClinVar
TP53	P04637	p.Gly105Cys	VAR_044661	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Gly105Val	VAR_044665	Missense	-	-	UniProt
TP53	P04637	p.Ser106Arg	RCV000582529	missense variant	-	NC_000017.11:g.7676051G>C	ClinVar
TP53	P04637	p.Ser106CysSer	NCI-TCGA novel	insertion	-	NC_000017.11:g.7676049_7676050insAGCTGC	NCI-TCGA
TP53	P04637	p.Ser106Ile	RCV000774504	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676052C>A	ClinVar
TP53	P04637	p.Ser106Arg	rs1555526581	missense variant	-	NC_000017.11:g.7676051G>C	UniProt,dbSNP
TP53	P04637	p.Ser106Arg	VAR_044667	missense variant	-	NC_000017.11:g.7676051G>C	UniProt
TP53	P04637	p.Ser106Arg	rs1555526581	missense variant	-	NC_000017.11:g.7676051G>C	-
TP53	P04637	p.Ser106Gly	VAR_044666	Missense	-	-	UniProt
TP53	P04637	p.Tyr107Ser	rs587782447	missense variant	-	NC_000017.11:g.7676049T>G	-
TP53	P04637	p.Tyr107Asn	RCV000460800	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676050A>T	ClinVar
TP53	P04637	p.Tyr107Asp	COSM220765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676050A>C	NCI-TCGA Cosmic
TP53	P04637	p.Tyr107Cys	RCV000132052	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676049T>C	ClinVar
TP53	P04637	p.Tyr107Ter	RCV000473161	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676048G>T	ClinVar
TP53	P04637	p.Tyr107Cys	rs587782447	missense variant	-	NC_000017.11:g.7676049T>C	UniProt,dbSNP
TP53	P04637	p.Tyr107Cys	VAR_044668	missense variant	-	NC_000017.11:g.7676049T>C	UniProt
TP53	P04637	p.Tyr107Cys	rs587782447	missense variant	-	NC_000017.11:g.7676049T>C	-
TP53	P04637	p.Tyr107His	rs368771578	missense variant	-	NC_000017.11:g.7676050A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Tyr107Ter	rs770776262	stop gained	-	NC_000017.11:g.7676048G>T	ExAC,gnomAD
TP53	P04637	p.Tyr107Asn	rs368771578	missense variant	-	NC_000017.11:g.7676050A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Tyr107Ser	RCV000131517	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676049T>G	ClinVar
TP53	P04637	p.Tyr107Cys	RCV000709408	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676049T>C	ClinVar
TP53	P04637	p.Tyr107His	RCV000588191	missense variant	-	NC_000017.11:g.7676050A>G	ClinVar
TP53	P04637	p.Tyr107His	RCV000411273	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676050A>G	ClinVar
TP53	P04637	p.Tyr107Asp	VAR_044669	Missense	-	-	UniProt
TP53	P04637	p.Gly108Arg	rs587782461	missense variant	-	NC_000017.11:g.7676047C>G	ExAC,gnomAD
TP53	P04637	p.Gly108Ser	rs587782461	missense variant	-	NC_000017.11:g.7676047C>T	UniProt,dbSNP
TP53	P04637	p.Gly108Ser	VAR_044672	missense variant	-	NC_000017.11:g.7676047C>T	UniProt
TP53	P04637	p.Gly108Ser	rs587782461	missense variant	-	NC_000017.11:g.7676047C>T	ExAC,gnomAD
TP53	P04637	p.Gly108Ser	RCV000679368	missense variant	-	NC_000017.11:g.7676047C>T	ClinVar
TP53	P04637	p.Gly108PhePheSerTerUnkUnk	COSM437634	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676046_7676047CC>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly108ValPheSerTerUnkUnk	COSM2745024	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676046C>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly108Arg	RCV000527049	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676047C>G	ClinVar
TP53	P04637	p.Gly108Arg	RCV000777270	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676047C>G	ClinVar
TP53	P04637	p.Gly108Ser	RCV000131548	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676047C>T	ClinVar
TP53	P04637	p.Gly108Cys	rs587782461	missense variant	-	NC_000017.11:g.7676047C>A	ExAC,gnomAD
TP53	P04637	p.Gly108Ser	RCV000458425	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676047C>T	ClinVar
TP53	P04637	p.Gly108Asp	VAR_044671	Missense	-	-	UniProt
TP53	P04637	p.Phe109Ser	rs1064796722	missense variant	-	NC_000017.11:g.7676043A>G	UniProt,dbSNP
TP53	P04637	p.Phe109Ser	VAR_044675	missense variant	-	NC_000017.11:g.7676043A>G	UniProt
TP53	P04637	p.Phe109Ser	rs1064796722	missense variant	-	NC_000017.11:g.7676043A>G	-
TP53	P04637	p.Phe109Val	rs1057523496	missense variant	-	NC_000017.11:g.7676044A>C	-
TP53	P04637	p.Phe109Ter	RCV000492295	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676043delinsTTGGG	ClinVar
TP53	P04637	p.Phe109Ser	RCV000484423	missense variant	-	NC_000017.11:g.7676043A>G	ClinVar
TP53	P04637	p.Phe109Val	RCV000434126	missense variant	-	NC_000017.11:g.7676044A>C	ClinVar
TP53	P04637	p.Phe109Ter	RCV000492114	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676041_7676045delinsTTTT	ClinVar
TP53	P04637	p.Phe109Cys	RCV000785545	missense variant	Ovarian Neoplasms	NC_000017.11:g.7676043A>C	ClinVar
TP53	P04637	p.Phe109LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676035_7676045CCAGACGGAAA>-	NCI-TCGA
TP53	P04637	p.Phe109Ter	RCV000479264	frameshift	-	NC_000017.11:g.7676041_7676042del	ClinVar
TP53	P04637	p.Phe109Cys	VAR_044673	Missense	-	-	UniProt
TP53	P04637	p.Phe109Leu	VAR_044674	Missense	-	-	UniProt
TP53	P04637	p.Arg110Leu	RCV000473145	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676040C>A	ClinVar
TP53	P04637	p.Arg110His	RCV000122182	missense variant	-	NC_000017.11:g.7676040C>T	ClinVar
TP53	P04637	p.Arg110Ser	RCV000461586	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676041G>T	ClinVar
TP53	P04637	p.Arg110Cys	RCV000195648	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676041G>A	ClinVar
TP53	P04637	p.Arg110Ter	RCV000115718	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676042del	ClinVar
TP53	P04637	p.Arg110SerPheSerTerUnkUnk	COSM1480090	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676042_7676043insAA	NCI-TCGA Cosmic
TP53	P04637	p.Arg110TrpPheSerTerUnkUnk	COSM3723930	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676038_7676041GACG>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg110SerPheSerTerUnkUnk	COSM1480087	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676041_7676042insGA	NCI-TCGA Cosmic
TP53	P04637	p.Arg110Cys	RCV000414039	missense variant	-	NC_000017.11:g.7676041G>A	ClinVar
TP53	P04637	p.Arg110Ser	RCV000129184	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676041G>T	ClinVar
TP53	P04637	p.Arg110Cys	RCV000131196	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676041G>A	ClinVar
TP53	P04637	p.Arg110Ser	rs587781371	missense variant	-	NC_000017.11:g.7676041G>T	UniProt,dbSNP
TP53	P04637	p.Arg110Ser	VAR_044678	missense variant	-	NC_000017.11:g.7676041G>T	UniProt
TP53	P04637	p.Arg110Ser	rs587781371	missense variant	-	NC_000017.11:g.7676041G>T	ExAC,gnomAD
TP53	P04637	p.Arg110His	rs11540654	missense variant	-	NC_000017.11:g.7676040C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg110Pro	rs11540654	missense variant	-	NC_000017.11:g.7676040C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg110Cys	rs587781371	missense variant	-	NC_000017.11:g.7676041G>A	ExAC,gnomAD
TP53	P04637	p.Arg110Cys	rs587781371	missense variant	-	NC_000017.11:g.7676041G>A	UniProt,dbSNP
TP53	P04637	p.Arg110Cys	VAR_005860	missense variant	-	NC_000017.11:g.7676041G>A	UniProt
TP53	P04637	p.Arg110ValPheSerTerUnkUnk	rs587780066	frameshift	-	NC_000017.11:g.7676041G>-	NCI-TCGA,NCI-TCGA Cosmic
TP53	P04637	p.Arg110Pro	RCV000231991	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676040C>G	ClinVar
TP53	P04637	p.Arg110Leu	rs11540654	missense variant	-	NC_000017.11:g.7676040C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg110Gly	VAR_044676	Missense	-	-	UniProt
TP53	P04637	p.Leu111Arg	RCV000420444	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Arg	RCV000423948	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Gln	RCV000433045	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Ter	RCV000492097	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676042_7676048dup	ClinVar
TP53	P04637	p.Leu111Gln	RCV000442091	missense variant	Carcinoma of esophagus	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Gln	RCV000421931	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Gln	RCV000442462	missense variant	Glioblastoma	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Gln	RCV000433598	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Arg	RCV000441661	missense variant	Carcinoma of esophagus	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Gln	RCV000443054	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Ter	RCV000699900	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676042_7676048dup	ClinVar
TP53	P04637	p.Leu111Gln	RCV000424730	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Gln	RCV000434970	missense variant	Neoplasm of the breast	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Arg	RCV000423328	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Pro	RCV000459042	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676037A>G	ClinVar
TP53	P04637	p.Leu111Arg	RCV000430499	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Arg	rs1057519997	missense variant	-	NC_000017.11:g.7676037A>C	UniProt,dbSNP
TP53	P04637	p.Leu111Arg	VAR_044682	missense variant	-	NC_000017.11:g.7676037A>C	UniProt
TP53	P04637	p.Leu111Pro	rs1057519997	missense variant	-	NC_000017.11:g.7676037A>G	UniProt,dbSNP
TP53	P04637	p.Leu111Pro	VAR_044680	missense variant	-	NC_000017.11:g.7676037A>G	UniProt
TP53	P04637	p.Leu111Gln	rs1057519997	missense variant	-	NC_000017.11:g.7676037A>T	UniProt,dbSNP
TP53	P04637	p.Leu111Gln	VAR_044681	missense variant	-	NC_000017.11:g.7676037A>T	UniProt
TP53	P04637	p.Leu111Arg	RCV000440112	missense variant	Glioblastoma	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Arg	RCV000435486	missense variant	Neoplasm of the breast	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Arg	RCV000429869	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Met	VAR_044679	Missense	-	-	UniProt
TP53	P04637	p.Gly112Ser	RCV000581490	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676035C>T	ClinVar
TP53	P04637	p.Gly112Ser	rs1423803759	missense variant	-	NC_000017.11:g.7676035C>T	UniProt,dbSNP
TP53	P04637	p.Gly112Ser	VAR_044684	missense variant	-	NC_000017.11:g.7676035C>T	UniProt
TP53	P04637	p.Gly112Ser	rs1423803759	missense variant	-	NC_000017.11:g.7676035C>T	gnomAD
TP53	P04637	p.Gly112Ala	rs1390502714	missense variant	-	NC_000017.11:g.7676034C>G	gnomAD
TP53	P04637	p.Gly112Asp	VAR_044683	Missense	-	-	UniProt
TP53	P04637	p.Phe113Val	RCV000129770	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676032A>C	ClinVar
TP53	P04637	p.Phe113Leu	COSM4070059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7676030G>C	NCI-TCGA Cosmic
TP53	P04637	p.Phe113Val	RCV000633376	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676032A>C	ClinVar
TP53	P04637	p.Phe113Cys	RCV000785288	missense variant	Ovarian Neoplasms	NC_000017.11:g.7676031A>C	ClinVar
TP53	P04637	p.Phe113Val	rs587781642	missense variant	-	NC_000017.11:g.7676032A>C	-
TP53	P04637	p.Phe113Val	rs587781642	missense variant	-	NC_000017.11:g.7676032A>C	UniProt,dbSNP
TP53	P04637	p.Phe113Val	VAR_033033	missense variant	-	NC_000017.11:g.7676032A>C	UniProt
TP53	P04637	p.Phe113Ile	VAR_044685	Missense	-	-	UniProt
TP53	P04637	p.Phe113Ser	VAR_044687	Missense	-	-	UniProt
TP53	P04637	p.Phe113Leu	VAR_044686	Missense	-	-	UniProt
TP53	P04637	p.Phe113Gly	VAR_045788	Missense	-	-	UniProt
TP53	P04637	p.Phe113Cys	VAR_005863	Missense	-	-	UniProt
TP53	P04637	p.Leu114Ser	rs781724995	missense variant	-	NC_000017.11:g.7676028A>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Leu114Ser	RCV000537102	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676028A>G	ClinVar
TP53	P04637	p.Leu114Ter	RCV000785466	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676028A>T	ClinVar
TP53	P04637	p.His115IlePheSerTerUnk	COSM5230967	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676026G>-	NCI-TCGA Cosmic
TP53	P04637	p.His115Asn	rs1555526532	missense variant	-	NC_000017.11:g.7676026G>T	-
TP53	P04637	p.His115Arg	RCV000575197	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676025T>C	ClinVar
TP53	P04637	p.His115Arg	RCV000696891	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676025T>C	ClinVar
TP53	P04637	p.His115Arg	RCV000161021	missense variant	-	NC_000017.11:g.7676025T>C	ClinVar
TP53	P04637	p.His115Asn	RCV000821053	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676026G>T	ClinVar
TP53	P04637	p.His115Arg	rs730881996	missense variant	-	NC_000017.11:g.7676025T>C	-
TP53	P04637	p.His115Asn	RCV000576064	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676026G>T	ClinVar
TP53	P04637	p.His115Tyr	VAR_044688	Missense	-	-	UniProt
TP53	P04637	p.Ser116Ter	RCV000657463	frameshift	-	NC_000017.11:g.7676023_7676029dup	ClinVar
TP53	P04637	p.Ser116Ala	rs989692988	missense variant	-	NC_000017.11:g.7676023A>C	gnomAD
TP53	P04637	p.Ser116Cys	VAR_044689	Missense	-	-	UniProt
TP53	P04637	p.Ser116Phe	VAR_044690	Missense	-	-	UniProt
TP53	P04637	p.Ser116Pro	VAR_044691	Missense	-	-	UniProt
TP53	P04637	p.Gly117Arg	RCV000565337	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676020C>T	ClinVar
TP53	P04637	p.Gly117AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676003_7676019CACAGACTTGGCTGTCC>-	NCI-TCGA
TP53	P04637	p.Gly117Ala	rs755238756	missense variant	-	NC_000017.11:g.7676019C>G	ExAC,gnomAD
TP53	P04637	p.Gly117Glu	rs755238756	missense variant	-	NC_000017.11:g.7676019C>T	ExAC,gnomAD
TP53	P04637	p.Gly117Glu	rs755238756	missense variant	-	NC_000017.11:g.7676019C>T	UniProt,dbSNP
TP53	P04637	p.Gly117Glu	VAR_044692	missense variant	-	NC_000017.11:g.7676019C>T	UniProt
TP53	P04637	p.Gly117Arg	rs1555526518	missense variant	-	NC_000017.11:g.7676020C>T	-
TP53	P04637	p.Gly117Arg	rs1555526518	missense variant	-	NC_000017.11:g.7676020C>T	UniProt,dbSNP
TP53	P04637	p.Gly117Arg	VAR_044693	missense variant	-	NC_000017.11:g.7676020C>T	UniProt
TP53	P04637	p.Thr118Ile	rs1064794141	missense variant	-	NC_000017.11:g.7676016G>A	-
TP53	P04637	p.Thr118Ile	RCV000484765	missense variant	-	NC_000017.11:g.7676016G>A	ClinVar
TP53	P04637	p.Thr118AspPheSerTerUnkUnk	COSM69197	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676017_7676018insC	NCI-TCGA Cosmic
TP53	P04637	p.Thr118GlnPheSerTerUnk	COSM2745000	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676018C>-	NCI-TCGA Cosmic
TP53	P04637	p.Thr118Ile	RCV000526166	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676016G>A	ClinVar
TP53	P04637	p.Thr118Ile	RCV000569220	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676016G>A	ClinVar
TP53	P04637	p.Thr118Ala	VAR_044694	Missense	-	-	UniProt
TP53	P04637	p.Thr118Arg	VAR_044696	Missense	-	-	UniProt
TP53	P04637	p.Ala119Pro	RCV000567984	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676014C>G	ClinVar
TP53	P04637	p.Ala119Pro	rs1555526506	missense variant	-	NC_000017.11:g.7676014C>G	-
TP53	P04637	p.Ala119Thr	VAR_044698	Missense	-	-	UniProt
TP53	P04637	p.Ala119Asp	VAR_044697	Missense	-	-	UniProt
TP53	P04637	p.Lys120Gln	rs121912658	missense variant	-	NC_000017.11:g.7676011T>G	UniProt,dbSNP
TP53	P04637	p.Lys120Gln	VAR_044701	missense variant	-	NC_000017.11:g.7676011T>G	UniProt
TP53	P04637	p.Lys120Ter	RCV000013158	nonsense	Li-Fraumeni-like syndrome (LFL)	NC_000017.11:g.7676011T>A	ClinVar
TP53	P04637	p.Lys120Gln	RCV000478911	missense variant	-	NC_000017.11:g.7676011T>G	ClinVar
TP53	P04637	p.Lys120Glu	RCV000213049	missense variant	-	NC_000017.11:g.7676011T>C	ClinVar
TP53	P04637	p.Lys120SerPheSerTerUnk	COSM4384940	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676012G>-	NCI-TCGA Cosmic
TP53	P04637	p.Lys120ThrPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7676010_7676011insTAAG	NCI-TCGA
TP53	P04637	p.Lys120Glu	rs121912658	missense variant	-	NC_000017.11:g.7676011T>C	UniProt,dbSNP
TP53	P04637	p.Lys120Glu	VAR_044699	missense variant	-	NC_000017.11:g.7676011T>C	UniProt
TP53	P04637	p.Lys120Met	VAR_044700	Missense	-	-	UniProt
TP53	P04637	p.Lys120Arg	VAR_044702	Missense	-	-	UniProt
TP53	P04637	p.Ser121CysPheSerTerUnkUnk	COSM45223	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676006_7676007AG>-	NCI-TCGA Cosmic
TP53	P04637	p.Ser121Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7676007G>T	NCI-TCGA
TP53	P04637	p.Ser121Ter	RCV000785255	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675999_7676009del	ClinVar
TP53	P04637	p.Ser121Phe	VAR_044703	Missense	-	-	UniProt
TP53	P04637	p.Val122Ter	RCV000824056	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676003_7676004CA[1]	ClinVar
TP53	P04637	p.Val122Ter	RCV000785538	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676003_7676004CA[1]	ClinVar
TP53	P04637	p.Val122Met	RCV000129460	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676005C>T	ClinVar
TP53	P04637	p.Val122Met	RCV000581285	missense variant	-	NC_000017.11:g.7676005C>T	ClinVar
TP53	P04637	p.Val122Ter	RCV000115720	frameshift	-	NC_000017.11:g.7676003_7676004CA[1]	ClinVar
TP53	P04637	p.Val122Met	RCV000206482	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676005C>T	ClinVar
TP53	P04637	p.Val122CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676005_7676006insA	NCI-TCGA
TP53	P04637	p.Val122LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676001_7676005GTCAC>-	NCI-TCGA
TP53	P04637	p.Val122Met	rs587781495	missense variant	-	NC_000017.11:g.7676005C>T	-
TP53	P04637	p.Val122AspPheSerTerUnkUnk	rs587780067	frameshift	-	NC_000017.11:g.7676003_7676004CA>-	NCI-TCGA,NCI-TCGA Cosmic
TP53	P04637	p.Val122Ter	RCV000494892	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676010_7676040dup	ClinVar
TP53	P04637	p.Val122Leu	VAR_044704	Missense	-	-	UniProt
TP53	P04637	p.Thr123ArgPheSerTerUnkUnk	COSM1324764	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7676001_7676002insTC	NCI-TCGA Cosmic
TP53	P04637	p.Thr123Ile	RCV000572422	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676001G>A	ClinVar
TP53	P04637	p.Thr123AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7676002_7676003insC	NCI-TCGA
TP53	P04637	p.Thr123Ile	rs1555526486	missense variant	-	NC_000017.11:g.7676001G>A	-
TP53	P04637	p.Thr123Ile	rs1555526486	missense variant	-	NC_000017.11:g.7676001G>A	UniProt,dbSNP
TP53	P04637	p.Thr123Ile	VAR_044705	missense variant	-	NC_000017.11:g.7676001G>A	UniProt
TP53	P04637	p.Thr123Asn	VAR_044706	Missense	-	-	UniProt
TP53	P04637	p.Cys124Gly	rs730881997	missense variant	-	NC_000017.11:g.7675999A>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys124Ter	RCV000785247	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675998dup	ClinVar
TP53	P04637	p.Cys124PhePheSerTerUnkUnk	COSM5080715	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675998_7675999insAA	NCI-TCGA Cosmic
TP53	P04637	p.Cys124AlaPheSerTerUnkUnk	COSM4434421	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675999A>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys124Ter	COSM69020	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675997G>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys124TrpPheSerTerUnkUnk	COSM1268350	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675997_7675998insC	NCI-TCGA Cosmic
TP53	P04637	p.Cys124Ter	RCV000541004	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675997G>T	ClinVar
TP53	P04637	p.Cys124Ser	RCV000574455	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675999A>T	ClinVar
TP53	P04637	p.Cys124Ser	RCV000161022	missense variant	-	NC_000017.11:g.7675999A>T	ClinVar
TP53	P04637	p.Cys124Gly	RCV000217878	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675999A>C	ClinVar
TP53	P04637	p.Cys124Ser	rs730881997	missense variant	-	NC_000017.11:g.7675999A>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys124Ter	rs1555526478	stop gained	-	NC_000017.11:g.7675997G>T	-
TP53	P04637	p.Cys124Trp	VAR_044710	Missense	-	-	UniProt
TP53	P04637	p.Cys124Tyr	VAR_044711	Missense	-	-	UniProt
TP53	P04637	p.Cys124Arg	VAR_044708	Missense	-	-	UniProt
TP53	P04637	p.Thr125Lys	rs786201057	missense variant	-	NC_000017.11:g.7675995G>T	UniProt,dbSNP
TP53	P04637	p.Thr125Lys	VAR_044713	missense variant	-	NC_000017.11:g.7675995G>T	UniProt
TP53	P04637	p.Thr125Pro	RCV000437835	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000434566	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000436394	missense variant	-	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000439813	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000425049	missense variant	Neoplasm of the breast	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000442185	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000422630	missense variant	-	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000442101	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000418295	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000426486	missense variant	Glioblastoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000429194	missense variant	Small cell lung cancer	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000428307	missense variant	-	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000417666	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000434887	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000439620	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000433906	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000423200	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000427158	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Arg	RCV000440402	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Lys	RCV000197507	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675995G>T	ClinVar
TP53	P04637	p.Thr125Arg	RCV000436286	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000424710	missense variant	Small cell lung cancer	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000419630	missense variant	Neoplasm of the breast	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675995_7675996insCTCGCTAGTGGGT	NCI-TCGA
TP53	P04637	p.Thr125Arg	RCV000492090	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000442028	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000419385	missense variant	Glioblastoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000425385	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Met	RCV000237013	missense variant	-	NC_000017.11:g.7675995G>A	ClinVar
TP53	P04637	p.Thr125Arg	RCV000429727	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Pro	rs1057520003	missense variant	-	NC_000017.11:g.7675996T>G	UniProt,dbSNP
TP53	P04637	p.Thr125Pro	VAR_044714	missense variant	-	NC_000017.11:g.7675996T>G	UniProt
TP53	P04637	p.Thr125Pro	rs1057520003	missense variant	-	NC_000017.11:g.7675996T>G	-
TP53	P04637	p.Thr125Arg	rs786201057	missense variant	-	NC_000017.11:g.7675995G>C	UniProt,dbSNP
TP53	P04637	p.Thr125Arg	VAR_044715	missense variant	-	NC_000017.11:g.7675995G>C	UniProt
TP53	P04637	p.Thr125Arg	rs786201057	missense variant	-	NC_000017.11:g.7675995G>C	gnomAD
TP53	P04637	p.Thr125Met	rs786201057	missense variant	-	NC_000017.11:g.7675995G>A	UniProt,dbSNP
TP53	P04637	p.Thr125Met	VAR_005864	missense variant	-	NC_000017.11:g.7675995G>A	UniProt
TP53	P04637	p.Thr125Met	rs786201057	missense variant	-	NC_000017.11:g.7675995G>A	gnomAD
TP53	P04637	p.Thr125Lys	rs786201057	missense variant	-	NC_000017.11:g.7675995G>T	gnomAD
TP53	P04637	p.Thr125Pro	RCV000443332	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000432449	missense variant	Neoplasm of brain	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Arg	RCV000434737	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000424026	missense variant	-	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000442833	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000440628	missense variant	-	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000436088	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000436638	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000423812	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000442755	missense variant	-	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000432131	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000423368	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000428977	missense variant	Neoplasm of brain	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000430321	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Ala	VAR_044712	Missense	-	-	UniProt
TP53	P04637	p.Tyr126His	COSM4435839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675236A>G	NCI-TCGA Cosmic
TP53	P04637	p.Tyr126Ser	COSM1610875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675235T>G	NCI-TCGA Cosmic
TP53	P04637	p.Tyr126Ter	RCV000702157	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675234G>C	ClinVar
TP53	P04637	p.Tyr126ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675994_7675995insACTCTCTCTA	NCI-TCGA
TP53	P04637	p.Tyr126Cys	RCV000785493	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675235T>C	ClinVar
TP53	P04637	p.Tyr126Ter	RCV000785318	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675236del	ClinVar
TP53	P04637	p.Tyr126Cys	rs1555526335	missense variant	-	NC_000017.11:g.7675235T>C	UniProt,dbSNP
TP53	P04637	p.Tyr126Cys	VAR_044716	missense variant	-	NC_000017.11:g.7675235T>C	UniProt
TP53	P04637	p.Tyr126Asp	RCV000785482	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675236A>C	ClinVar
TP53	P04637	p.Tyr126Asn	RCV000492304	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675236A>T	ClinVar
TP53	P04637	p.Tyr126Asn	RCV000801059	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675236A>T	ClinVar
TP53	P04637	p.Tyr126Asp	RCV000255685	missense variant	-	NC_000017.11:g.7675236A>C	ClinVar
TP53	P04637	p.Tyr126Gly	VAR_045789	Missense	-	-	UniProt
TP53	P04637	p.Tyr126His	VAR_044718	Missense	-	-	UniProt
TP53	P04637	p.Tyr126Ser	VAR_044719	Missense	-	-	UniProt
TP53	P04637	p.Tyr126Phe	VAR_044717	Missense	-	-	UniProt
TP53	P04637	p.Ser127Pro	COSM1644270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675233A>G	NCI-TCGA Cosmic
TP53	P04637	p.Ser127Tyr	COSM3403294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675232G>T	NCI-TCGA Cosmic
TP53	P04637	p.Ser127Thr	COSM1168839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675233A>T	NCI-TCGA Cosmic
TP53	P04637	p.Ser127Cys	RCV000205404	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675232G>C	ClinVar
TP53	P04637	p.Ser127Phe	RCV000785332	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675232G>A	ClinVar
TP53	P04637	p.Ser127Phe	RCV000161024	missense variant	-	NC_000017.11:g.7675232G>A	ClinVar
TP53	P04637	p.Ser127Thr	VAR_044722	Missense	-	-	UniProt
TP53	P04637	p.Ser127Pro	VAR_044721	Missense	-	-	UniProt
TP53	P04637	p.Ser127Tyr	VAR_044723	Missense	-	-	UniProt
TP53	P04637	p.Pro128LeuPheSerTerUnkUnk	COSM5198771	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675229G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro128Thr	rs1555526327	missense variant	-	NC_000017.11:g.7675230G>T	-
TP53	P04637	p.Pro128Thr	RCV000569462	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675230G>T	ClinVar
TP53	P04637	p.Pro128Thr	RCV000633349	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675230G>T	ClinVar
TP53	P04637	p.Pro128Ala	VAR_044724	Missense	-	-	UniProt
TP53	P04637	p.Pro128Ser	VAR_005868	Missense	-	-	UniProt
TP53	P04637	p.Pro128Leu	VAR_044725	Missense	-	-	UniProt
TP53	P04637	p.Pro128Arg	VAR_044726	Missense	-	-	UniProt
TP53	P04637	p.Ala129Gly	rs137852792	missense variant	-	NC_000017.11:g.7675226G>C	TOPMed
TP53	P04637	p.Ala129Thr	rs1438095083	missense variant	-	NC_000017.11:g.7675227C>T	UniProt,dbSNP
TP53	P04637	p.Ala129Thr	VAR_044728	missense variant	-	NC_000017.11:g.7675227C>T	UniProt
TP53	P04637	p.Ala129Thr	rs1438095083	missense variant	-	NC_000017.11:g.7675227C>T	TOPMed
TP53	P04637	p.Ala129Gly	RCV000557322	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675226G>C	ClinVar
TP53	P04637	p.Ala129Thr	RCV000567140	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675227C>T	ClinVar
TP53	P04637	p.Ala129Val	RCV000119793	missense variant	Familial cancer of breast	NC_000017.11:g.7675226G>A	ClinVar
TP53	P04637	p.Ala129ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675226_7675227insA	NCI-TCGA
TP53	P04637	p.Ala129Val	rs137852792	missense variant	-	NC_000017.11:g.7675226G>A	UniProt,dbSNP
TP53	P04637	p.Ala129Val	VAR_044729	missense variant	-	NC_000017.11:g.7675226G>A	UniProt
TP53	P04637	p.Ala129Val	rs137852792	missense variant	-	NC_000017.11:g.7675226G>A	TOPMed
TP53	P04637	p.Ala129Asp	VAR_005869	Missense	-	-	UniProt
TP53	P04637	p.Ala129Gly	VAR_044727	Missense	-	-	UniProt
TP53	P04637	p.Leu130Val	rs863224683	missense variant	-	NC_000017.11:g.7675224G>C	UniProt,dbSNP
TP53	P04637	p.Leu130Val	VAR_044734	missense variant	-	NC_000017.11:g.7675224G>C	UniProt
TP53	P04637	p.Leu130Val	rs863224683	missense variant	-	NC_000017.11:g.7675224G>C	-
TP53	P04637	p.Leu130Pro	RCV000492142	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675223A>G	ClinVar
TP53	P04637	p.Leu130ProPheSerTerUnkUnk	COSM69196	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675223_7675224insGG	NCI-TCGA Cosmic
TP53	P04637	p.Leu130Arg	COSM1610872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675223A>C	NCI-TCGA Cosmic
TP53	P04637	p.Leu130CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675224_7675225insGGCA	NCI-TCGA
TP53	P04637	p.Leu130Val	RCV000565366	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675224G>C	ClinVar
TP53	P04637	p.Leu130Phe	RCV000571787	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675224G>A	ClinVar
TP53	P04637	p.Leu130Pro	rs1131691013	missense variant	-	NC_000017.11:g.7675223A>G	-
TP53	P04637	p.Leu130Pro	rs1131691013	missense variant	-	NC_000017.11:g.7675223A>G	UniProt,dbSNP
TP53	P04637	p.Leu130Pro	VAR_044733	missense variant	-	NC_000017.11:g.7675223A>G	UniProt
TP53	P04637	p.Leu130Phe	rs863224683	missense variant	-	NC_000017.11:g.7675224G>A	UniProt,dbSNP
TP53	P04637	p.Leu130Phe	VAR_044730	missense variant	-	NC_000017.11:g.7675224G>A	UniProt
TP53	P04637	p.Leu130Phe	rs863224683	missense variant	-	NC_000017.11:g.7675224G>A	-
TP53	P04637	p.Leu130Val	RCV000536061	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675224G>C	ClinVar
TP53	P04637	p.Leu130Phe	RCV000200055	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675224G>A	ClinVar
TP53	P04637	p.Leu130Val	RCV000759374	missense variant	-	NC_000017.11:g.7675224G>C	ClinVar
TP53	P04637	p.Leu130Ile	VAR_044732	Missense	-	-	UniProt
TP53	P04637	p.Leu130His	VAR_044731	Missense	-	-	UniProt
TP53	P04637	p.Leu130Arg	VAR_005870	Missense	-	-	UniProt
TP53	P04637	p.Asn131Ile	RCV000821569	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675220T>A	ClinVar
TP53	P04637	p.Asn131Lys	RCV000492741	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675219G>T	ClinVar
TP53	P04637	p.Asn131ThrPheSerTerUnkUnk	COSM437612	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675220T>-	NCI-TCGA Cosmic
TP53	P04637	p.Asn131LysPheSerTerUnkUnk	COSM100015	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675219G>-	NCI-TCGA Cosmic
TP53	P04637	p.Asn131Ser	COSM1610869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675220T>C	NCI-TCGA Cosmic
TP53	P04637	p.Asn131Tyr	RCV000130751	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675221T>A	ClinVar
TP53	P04637	p.Asn131Lys	RCV000465360	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675219G>T	ClinVar
TP53	P04637	p.Asn131GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675221_7675222TG>-	NCI-TCGA
TP53	P04637	p.Asn131Lys	rs769270327	missense variant	-	NC_000017.11:g.7675219G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Asn131Lys	rs769270327	missense variant	-	NC_000017.11:g.7675219G>T	UniProt,dbSNP
TP53	P04637	p.Asn131Lys	VAR_005872	missense variant	-	NC_000017.11:g.7675219G>T	UniProt
TP53	P04637	p.Asn131Ile	rs1131691037	missense variant	-	NC_000017.11:g.7675220T>A	-
TP53	P04637	p.Asn131Ile	rs1131691037	missense variant	-	NC_000017.11:g.7675220T>A	UniProt,dbSNP
TP53	P04637	p.Asn131Ile	VAR_044737	missense variant	-	NC_000017.11:g.7675220T>A	UniProt
TP53	P04637	p.Asn131Tyr	rs587782160	missense variant	-	NC_000017.11:g.7675221T>A	-
TP53	P04637	p.Asn131Tyr	rs587782160	missense variant	-	NC_000017.11:g.7675221T>A	UniProt,dbSNP
TP53	P04637	p.Asn131Tyr	VAR_044739	missense variant	-	NC_000017.11:g.7675221T>A	UniProt
TP53	P04637	p.Asn131Lys	RCV000236166	missense variant	-	NC_000017.11:g.7675219G>T	ClinVar
TP53	P04637	p.Asn131Ter	RCV000785315	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675219del	ClinVar
TP53	P04637	p.Asn131Ser	VAR_005871	Missense	-	-	UniProt
TP53	P04637	p.Asn131His	VAR_044736	Missense	-	-	UniProt
TP53	P04637	p.Asn131Asp	VAR_044735	Missense	-	-	UniProt
TP53	P04637	p.Asn131Thr	VAR_044738	Missense	-	-	UniProt
TP53	P04637	p.Lys132Met	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>A	gnomAD
TP53	P04637	p.Lys132Met	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>A	UniProt,dbSNP
TP53	P04637	p.Lys132Met	VAR_005873	missense variant	-	NC_000017.11:g.7675217T>A	UniProt
TP53	P04637	p.Lys132Asn	rs866775781	missense variant	-	NC_000017.11:g.7675216C>G	-
TP53	P04637	p.Lys132Arg	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>C	gnomAD
TP53	P04637	p.Lys132Asn	rs866775781	missense variant	-	NC_000017.11:g.7675216C>A	-
TP53	P04637	p.Lys132Thr	RCV000420694	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000443063	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000437675	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000433123	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000435461	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Arg	RCV000471183	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675217T>C	ClinVar
TP53	P04637	p.Lys132Thr	RCV000424547	missense variant	-	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000442106	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Met	RCV000546420	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675217T>A	ClinVar
TP53	P04637	p.Lys132Thr	RCV000422403	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000423393	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000433243	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000442713	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000429238	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000427528	missense variant	-	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000432417	missense variant	-	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000419339	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000430184	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000430063	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000439586	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000795096	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675216C>A	ClinVar
TP53	P04637	p.Lys132Asn	RCV000432219	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000432114	missense variant	Neoplasm of brain	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000439934	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000422568	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000434062	missense variant	Neoplasm of the breast	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000421029	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000440130	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000442639	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Glu	RCV000468362	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675218T>C	ClinVar
TP53	P04637	p.Lys132Asn	RCV000422634	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000437720	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000427056	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000442346	missense variant	Neoplasm of brain	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000442734	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Thr	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>G	gnomAD
TP53	P04637	p.Lys132Thr	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>G	UniProt,dbSNP
TP53	P04637	p.Lys132Thr	VAR_044743	missense variant	-	NC_000017.11:g.7675217T>G	UniProt
TP53	P04637	p.Lys132Gln	rs747342068	missense variant	-	NC_000017.11:g.7675218T>G	ExAC,gnomAD
TP53	P04637	p.Lys132Glu	rs747342068	missense variant	-	NC_000017.11:g.7675218T>C	ExAC,gnomAD
TP53	P04637	p.Lys132Gln	RCV000427319	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000419400	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000419226	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000432840	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000438684	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000436873	missense variant	Glioblastoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000442467	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000427017	missense variant	Neoplasm of the breast	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000437910	missense variant	Neoplasm of brain	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000425633	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000430299	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000419605	missense variant	Glioblastoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Arg	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>C	UniProt,dbSNP
TP53	P04637	p.Lys132Arg	VAR_044742	missense variant	-	NC_000017.11:g.7675217T>C	UniProt
TP53	P04637	p.Lys132Asn	RCV000439834	missense variant	Glioblastoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000440843	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000421516	missense variant	Neoplasm of the breast	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000424592	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Ter	RCV000166969	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675207_7675222del	ClinVar
TP53	P04637	p.Lys132Asn	RCV000434424	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Leu	VAR_045790	Missense	-	-	UniProt
TP53	P04637	p.Lys132Trp	VAR_045791	Missense	-	-	UniProt
TP53	P04637	p.Lys132_Met133delinsAsnLeu	VAR_047159	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met133Ile	rs1064795139	missense variant	-	NC_000017.11:g.7675213C>T	gnomAD
TP53	P04637	p.Met133Ile	rs1064795139	missense variant	-	NC_000017.11:g.7675213C>T	UniProt,dbSNP
TP53	P04637	p.Met133Ile	VAR_044744	missense variant	-	NC_000017.11:g.7675213C>T	UniProt
TP53	P04637	p.Met133Thr	RCV000013151	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675214A>G	ClinVar
TP53	P04637	p.Met133Ile	RCV000484833	missense variant	-	NC_000017.11:g.7675213C>T	ClinVar
TP53	P04637	p.Met133Ile	RCV000662907	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675213C>T	ClinVar
TP53	P04637	p.Met133Lys	COSM11781	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675214A>T	NCI-TCGA Cosmic
TP53	P04637	p.Met133Arg	COSM1559495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675214A>C	NCI-TCGA Cosmic
TP53	P04637	p.Met133Val	rs1057280220	missense variant	-	NC_000017.11:g.7675215T>C	UniProt,dbSNP
TP53	P04637	p.Met133Val	VAR_044748	missense variant	-	NC_000017.11:g.7675215T>C	UniProt
TP53	P04637	p.Met133Val	rs1057280220	missense variant	-	NC_000017.11:g.7675215T>C	TOPMed,gnomAD
TP53	P04637	p.Met133Val	RCV000633342	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675215T>C	ClinVar
TP53	P04637	p.Met133Thr	rs28934873	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675214A>G	UniProt,dbSNP
TP53	P04637	p.Met133Thr	VAR_005875	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675214A>G	UniProt
TP53	P04637	p.Met133Thr	rs28934873	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7675214A>G	-
TP53	P04637	p.Met133Thr	RCV000492130	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675214A>G	ClinVar
TP53	P04637	p.Met133Leu	VAR_044746	Missense	-	-	UniProt
TP53	P04637	p.Met133Lys	VAR_044745	Missense	-	-	UniProt
TP53	P04637	p.Met133Arg	VAR_044747	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Phe134Leu	rs267605077	missense variant	-	NC_000017.11:g.7675212A>G	-
TP53	P04637	p.Phe134Val	COSM249523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675212A>C	NCI-TCGA Cosmic
TP53	P04637	p.Phe134Leu	COSM45167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675210A>T	NCI-TCGA Cosmic
TP53	P04637	p.Phe134Ile	rs267605077	missense variant	-	NC_000017.11:g.7675212A>T	-
TP53	P04637	p.Phe134Cys	rs780442292	missense variant	-	NC_000017.11:g.7675211A>C	ExAC,gnomAD
TP53	P04637	p.Phe134Ter	RCV000582839	frameshift	-	NC_000017.11:g.7675211_7675212insC	ClinVar
TP53	P04637	p.Phe134Ile	RCV000565274	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675212A>T	ClinVar
TP53	P04637	p.Phe134Cys	RCV000214547	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675211A>C	ClinVar
TP53	P04637	p.Phe134Cys	RCV000656580	missense variant	-	NC_000017.11:g.7675211A>C	ClinVar
TP53	P04637	p.Phe134Ser	VAR_044751	Missense	-	-	UniProt
TP53	P04637	p.Phe134Ile	VAR_044750	Missense	-	-	UniProt
TP53	P04637	p.Phe134Val	VAR_044752	Missense	-	-	UniProt
TP53	P04637	p.Cys135Trp	rs1057519976	missense variant	-	NC_000017.11:g.7675207G>C	UniProt,dbSNP
TP53	P04637	p.Cys135Trp	VAR_044755	missense variant	-	NC_000017.11:g.7675207G>C	UniProt
TP53	P04637	p.Cys135Trp	RCV000420220	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Ser	RCV000814994	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675209A>T	ClinVar
TP53	P04637	p.Cys135Arg	RCV000441192	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000429841	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000418091	missense variant	Neoplasm of brain	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000440105	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000432245	missense variant	Neoplasm of brain	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000425388	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000423943	missense variant	Neoplasm of the breast	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000441628	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Trp	RCV000417767	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000422903	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000423274	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Trp	RCV000430892	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000444995	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000433604	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000432610	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Ter	RCV000492493	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675207_7675209delinsCC	ClinVar
TP53	P04637	p.Cys135Arg	RCV000426036	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000439451	missense variant	-	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000422242	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000426876	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000435797	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000436440	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000434318	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135SerPheSerTerUnkUnk	COSM5369713	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675208C>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys135AlaPheSerTerUnkUnk	COSM13156	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675209A>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys135Ter	COSM44319	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675207G>T	NCI-TCGA Cosmic
TP53	P04637	p.Cys135Tyr	RCV000439440	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000425788	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000431855	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000130396	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000423651	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000438861	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000421166	missense variant	-	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000418582	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000437052	missense variant	Neoplasm of the breast	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000438381	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000581322	missense variant	-	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000428748	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000419337	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000444605	missense variant	-	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000444308	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000417503	missense variant	Neoplasm of brain	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000427781	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000429447	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000428180	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675208_7675209insA	NCI-TCGA
TP53	P04637	p.Cys135Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7675206_7675207GG>-	NCI-TCGA
TP53	P04637	p.Cys135Arg	rs1057519975	missense variant	-	NC_000017.11:g.7675209A>G	UniProt,dbSNP
TP53	P04637	p.Cys135Arg	VAR_044754	missense variant	-	NC_000017.11:g.7675209A>G	UniProt
TP53	P04637	p.Cys135Phe	rs587781991	missense variant	-	NC_000017.11:g.7675208C>A	UniProt,dbSNP
TP53	P04637	p.Cys135Phe	VAR_005877	missense variant	-	NC_000017.11:g.7675208C>A	UniProt
TP53	P04637	p.Cys135Phe	rs587781991	missense variant	-	NC_000017.11:g.7675208C>A	-
TP53	P04637	p.Cys135Ser	rs1057519975	missense variant	-	NC_000017.11:g.7675209A>T	UniProt,dbSNP
TP53	P04637	p.Cys135Ser	VAR_005876	missense variant	-	NC_000017.11:g.7675209A>T	UniProt
TP53	P04637	p.Cys135Gly	rs1057519975	missense variant	-	NC_000017.11:g.7675209A>C	UniProt,dbSNP
TP53	P04637	p.Cys135Gly	VAR_044753	missense variant	-	NC_000017.11:g.7675209A>C	UniProt
TP53	P04637	p.Cys135Tyr	RCV000419825	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000444676	missense variant	Neoplasm of brain	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000436707	missense variant	Neoplasm of the breast	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000492398	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000430048	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Trp	RCV000434979	missense variant	Neoplasm of the breast	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Trp	RCV000424924	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000434656	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000444209	missense variant	-	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000435704	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Trp	RCV000440498	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Trp	RCV000420893	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Gly	RCV000570655	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675209A>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000430504	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Tyr	rs587781991	missense variant	-	NC_000017.11:g.7675208C>T	UniProt,dbSNP
TP53	P04637	p.Cys135Tyr	VAR_044756	missense variant	-	NC_000017.11:g.7675208C>T	UniProt
TP53	P04637	p.Cys135Tyr	rs587781991	missense variant	-	NC_000017.11:g.7675208C>T	-
TP53	P04637	p.Cys135Thr	VAR_045792	Missense	-	-	UniProt
TP53	P04637	p.Gln136His	RCV000165874	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675204T>G	ClinVar
TP53	P04637	p.Gln136His	RCV000229644	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675204T>G	ClinVar
TP53	P04637	p.Gln136Ter	COSM11166	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675206G>A	NCI-TCGA Cosmic
TP53	P04637	p.Gln136Glu	RCV000572692	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675206G>C	ClinVar
TP53	P04637	p.Gln136Pro	RCV000704458	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675205T>G	ClinVar
TP53	P04637	p.Gln136His	RCV000571644	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675204T>A	ClinVar
TP53	P04637	p.Gln136His	rs758781593	missense variant	-	NC_000017.11:g.7675204T>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln136Glu	rs1555526268	missense variant	-	NC_000017.11:g.7675206G>C	-
TP53	P04637	p.Gln136Glu	rs1555526268	missense variant	-	NC_000017.11:g.7675206G>C	UniProt,dbSNP
TP53	P04637	p.Gln136Glu	VAR_005878	missense variant	-	NC_000017.11:g.7675206G>C	UniProt
TP53	P04637	p.Gln136His	rs758781593	missense variant	-	NC_000017.11:g.7675204T>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln136Arg	VAR_044759	Missense	-	-	UniProt
TP53	P04637	p.Gln136Lys	VAR_005879	Missense	-	-	UniProt
TP53	P04637	p.Gln136Pro	VAR_044758	Missense	-	-	UniProt
TP53	P04637	p.Leu137Gln	COSM1172505	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675202A>T	NCI-TCGA Cosmic
TP53	P04637	p.Leu137ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675201_7675204CAGT>-	NCI-TCGA
TP53	P04637	p.Leu137Val	VAR_044762	Missense	-	-	UniProt
TP53	P04637	p.Leu137Met	VAR_044760	Missense	-	-	UniProt
TP53	P04637	p.Leu137Gln	VAR_005880	Missense	-	-	UniProt
TP53	P04637	p.Leu137Pro	VAR_044761	Missense	-	-	UniProt
TP53	P04637	p.Ala138Pro	rs28934875	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675200C>G	UniProt,dbSNP
TP53	P04637	p.Ala138Pro	VAR_005881	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675200C>G	UniProt
TP53	P04637	p.Ala138Val	RCV000813957	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675199G>A	ClinVar
TP53	P04637	p.Ala138Thr	COSM3403284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675200C>T	NCI-TCGA Cosmic
TP53	P04637	p.Ala138Val	RCV000164195	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675199G>A	ClinVar
TP53	P04637	p.Ala138CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675185_7675200CAGGGCAGGTCTTGGC>-	NCI-TCGA
TP53	P04637	p.Ala138Asp	rs750600586	missense variant	-	NC_000017.11:g.7675199G>T	ExAC,gnomAD
TP53	P04637	p.Ala138Val	rs750600586	missense variant	-	NC_000017.11:g.7675199G>A	UniProt,dbSNP
TP53	P04637	p.Ala138Val	VAR_033034	missense variant	-	NC_000017.11:g.7675199G>A	UniProt
TP53	P04637	p.Ala138Val	rs750600586	missense variant	-	NC_000017.11:g.7675199G>A	ExAC,gnomAD
TP53	P04637	p.Ala138Asp	RCV000633392	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675199G>T	ClinVar
TP53	P04637	p.Ala138Pro	RCV000461233	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675200C>G	ClinVar
TP53	P04637	p.Ala138Ser	VAR_044764	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Ala138Thr	VAR_044765	Missense	-	-	UniProt
TP53	P04637	p.Ala138Asp	VAR_044763	Missense	-	-	UniProt
TP53	P04637	p.Lys139Ter	RCV000785252	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675197T>A	ClinVar
TP53	P04637	p.Lys139Ter	RCV000119794	frameshift	Familial cancer of breast	NC_000017.11:g.7675199del	ClinVar
TP53	P04637	p.Lys139AsnPheSerTerUnk	COSM2151006	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675194_7675195TC>-	NCI-TCGA Cosmic
TP53	P04637	p.Lys139ArgPheSerTerUnkUnk	COSM44110	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675196T>-	NCI-TCGA Cosmic
TP53	P04637	p.Lys139Asn	COSM1303397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675195C>G	NCI-TCGA Cosmic
TP53	P04637	p.Lys139AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675185_7675198CAGGGCAGGTCTTG>-	NCI-TCGA
TP53	P04637	p.Lys139ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675161_7675197GTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTT>-	NCI-TCGA
TP53	P04637	p.Lys139Thr	NCI-TCGA novel	inframe deletion	-	NC_000017.11:g.7675188_7675196GGCAGGTCT>-	NCI-TCGA
TP53	P04637	p.Lys139CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675187_7675197GGGCAGGTCTT>-	NCI-TCGA
TP53	P04637	p.Lys139Asn	RCV000709406	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675195C>A	ClinVar
TP53	P04637	p.Lys139Glu	rs1212996409	missense variant	-	NC_000017.11:g.7675197T>C	TOPMed
TP53	P04637	p.Lys139Glu	rs1212996409	missense variant	-	NC_000017.11:g.7675197T>C	UniProt,dbSNP
TP53	P04637	p.Lys139Glu	VAR_044766	missense variant	-	NC_000017.11:g.7675197T>C	UniProt
TP53	P04637	p.Lys139Arg	VAR_044768	Missense	-	-	UniProt
TP53	P04637	p.Lys139Asn	VAR_005882	Missense	-	-	UniProt
TP53	P04637	p.Lys139Thr	VAR_044769	Missense	-	-	UniProt
TP53	P04637	p.Lys139Gln	VAR_044767	Missense	-	-	UniProt
TP53	P04637	p.Thr140MetPheSerTerUnkUnk	COSM69088	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675187_7675193GGGCAGG>-	NCI-TCGA Cosmic
TP53	P04637	p.Thr140Asn	rs786202561	missense variant	-	NC_000017.11:g.7675193G>T	-
TP53	P04637	p.Thr140Asn	rs786202561	missense variant	-	NC_000017.11:g.7675193G>T	UniProt,dbSNP
TP53	P04637	p.Thr140Asn	VAR_044772	missense variant	-	NC_000017.11:g.7675193G>T	UniProt
TP53	P04637	p.Thr140Asn	RCV000165423	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675193G>T	ClinVar
TP53	P04637	p.Thr140Pro	VAR_044773	Missense	-	-	UniProt
TP53	P04637	p.Thr140Ala	VAR_044770	Missense	-	-	UniProt
TP53	P04637	p.Thr140Ser	VAR_044774	Missense	-	-	UniProt
TP53	P04637	p.Thr140Ile	VAR_044771	Missense	-	-	UniProt
TP53	P04637	p.Cys141Trp	rs1057519977	missense variant	-	NC_000017.11:g.7675189G>C	UniProt,dbSNP
TP53	P04637	p.Cys141Trp	VAR_044777	missense variant	-	NC_000017.11:g.7675189G>C	UniProt
TP53	P04637	p.Cys141Tyr	rs587781288	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675190C>T	UniProt,dbSNP
TP53	P04637	p.Cys141Tyr	VAR_005886	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675190C>T	UniProt
TP53	P04637	p.Cys141Gly	RCV000438636	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Trp	RCV000467641	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675189G>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000433900	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Gly	RCV000444521	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000428237	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Gly	RCV000432969	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Arg	RCV000440220	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Arg	RCV000431037	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Arg	RCV000418678	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Ser	RCV000432852	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Ser	RCV000438490	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Gly	RCV000437911	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000417913	missense variant	Neoplasm of the breast	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Ser	RCV000430556	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000436190	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Arg	RCV000437414	missense variant	Neoplasm of the breast	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Arg	RCV000423623	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Gly	RCV000419137	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Arg	RCV000432161	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Gly	RCV000427661	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Arg	RCV000430017	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Ser	RCV000422574	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000441312	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Gly	RCV000420961	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000421892	missense variant	Neoplasm of brain	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Ser	RCV000442038	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Gly	RCV000426677	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Phe	RCV000427605	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000433302	missense variant	Neoplasm of the breast	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Ter	COSM1522477	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675189G>T	NCI-TCGA Cosmic
TP53	P04637	p.Cys141Ser	COSM293910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675190C>G	NCI-TCGA Cosmic
TP53	P04637	p.Cys141AlaPheSerTerUnkUnk	COSM69019	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675192G>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys141Phe	RCV000444376	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000436176	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000417404	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000435499	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000418478	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000423030	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Arg	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>G	UniProt,dbSNP
TP53	P04637	p.Cys141Arg	VAR_044775	missense variant	-	NC_000017.11:g.7675191A>G	UniProt
TP53	P04637	p.Cys141Arg	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>G	-
TP53	P04637	p.Cys141Ter	RCV000504610	frameshift	Neoplasm of the breast	NC_000017.11:g.7675192_7675196dup	ClinVar
TP53	P04637	p.Cys141Gly	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>C	UniProt,dbSNP
TP53	P04637	p.Cys141Gly	VAR_005884	missense variant	-	NC_000017.11:g.7675191A>C	UniProt
TP53	P04637	p.Cys141Gly	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>C	-
TP53	P04637	p.Cys141Phe	rs587781288	missense variant	-	NC_000017.11:g.7675190C>A	UniProt,dbSNP
TP53	P04637	p.Cys141Phe	VAR_005885	missense variant	-	NC_000017.11:g.7675190C>A	UniProt
TP53	P04637	p.Cys141Phe	RCV000437866	missense variant	Neoplasm of brain	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000425219	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000429427	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000445236	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Tyr	RCV000472876	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675190C>T	ClinVar
TP53	P04637	p.Cys141Tyr	RCV000128975	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675190C>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000420817	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Ser	RCV000439533	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000425407	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Gly	RCV000436820	missense variant	Neoplasm of the breast	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000439057	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000419723	missense variant	Neoplasm of brain	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Gly	RCV000425541	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Gly	RCV000432339	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Gly	RCV000444835	missense variant	Neoplasm of brain	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000420314	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Ser	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>T	UniProt,dbSNP
TP53	P04637	p.Cys141Ser	VAR_044776	missense variant	-	NC_000017.11:g.7675191A>T	UniProt
TP53	P04637	p.Cys141Ser	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>T	-
TP53	P04637	p.Cys141Ala	VAR_045793	Missense	-	-	UniProt
TP53	P04637	p.Pro142LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675187G>-	NCI-TCGA
TP53	P04637	p.Pro142Leu	rs779196500	missense variant	-	NC_000017.11:g.7675187G>A	UniProt,dbSNP
TP53	P04637	p.Pro142Leu	VAR_044780	missense variant	-	NC_000017.11:g.7675187G>A	UniProt
TP53	P04637	p.Pro142Leu	rs779196500	missense variant	-	NC_000017.11:g.7675187G>A	ExAC,gnomAD
TP53	P04637	p.Pro142Thr	VAR_044783	Missense	-	-	UniProt
TP53	P04637	p.Pro142Phe	VAR_045794	Missense	-	-	UniProt
TP53	P04637	p.Pro142His	VAR_044779	Missense	-	-	UniProt
TP53	P04637	p.Pro142Arg	VAR_044781	Missense	-	-	UniProt
TP53	P04637	p.Pro142Ser	VAR_044782	Missense	-	-	UniProt
TP53	P04637	p.Pro142Ala	VAR_044778	Missense	-	-	UniProt
TP53	P04637	p.Val143Leu	rs587782620	missense variant	-	NC_000017.11:g.7675185C>A	UniProt,dbSNP
TP53	P04637	p.Val143Leu	VAR_044786	missense variant	-	NC_000017.11:g.7675185C>A	UniProt
TP53	P04637	p.Val143Gly	rs1555526241	missense variant	-	NC_000017.11:g.7675184A>C	-
TP53	P04637	p.Val143Gly	rs1555526241	missense variant	-	NC_000017.11:g.7675184A>C	UniProt,dbSNP
TP53	P04637	p.Val143Gly	VAR_044785	missense variant	-	NC_000017.11:g.7675184A>C	UniProt
TP53	P04637	p.Val143Ala	COSM11306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675184A>G	NCI-TCGA Cosmic
TP53	P04637	p.Val143Glu	COSM3522705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675184A>T	NCI-TCGA Cosmic
TP53	P04637	p.Val143Met	RCV000413546	missense variant	Neoplasm of the breast	NC_000017.11:g.7675185C>T	ClinVar
TP53	P04637	p.Val143Leu	RCV000165206	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675185C>A	ClinVar
TP53	P04637	p.Val143AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675184_7675185insCAGGG	NCI-TCGA
TP53	P04637	p.Val143GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675184_7675185insCAGGGCAGGTCTTGGC	NCI-TCGA
TP53	P04637	p.Val143ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675159_7675186GGGTGTGGAATCAACCCACAGCTGCACA>-	NCI-TCGA
TP53	P04637	p.Val143Met	rs587782620	missense variant	-	NC_000017.11:g.7675185C>T	UniProt,dbSNP
TP53	P04637	p.Val143Met	VAR_044787	missense variant	-	NC_000017.11:g.7675185C>T	UniProt
TP53	P04637	p.Val143Gly	RCV000562247	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675184A>C	ClinVar
TP53	P04637	p.Val143Ala	VAR_005887	Missense	-	-	UniProt
TP53	P04637	p.Val143Glu	VAR_044784	Missense	-	-	UniProt
TP53	P04637	p.Gln144His	rs786201419	missense variant	-	NC_000017.11:g.7675180C>A	TOPMed
TP53	P04637	p.Gln144Leu	rs786203071	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675181T>A	UniProt,dbSNP
TP53	P04637	p.Gln144Leu	VAR_044790	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675181T>A	UniProt
TP53	P04637	p.Gln144His	RCV000430092	missense variant	-	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000425167	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000435123	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000423654	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144AlaPheSerTerUnkUnk	COSM69087	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675152_7675182CGGGCGGGGGTGTGGAATCAACCCACAGCTG>-	NCI-TCGA Cosmic
TP53	P04637	p.Gln144LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675181_7675182insA	NCI-TCGA
TP53	P04637	p.Gln144GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675177_7675183CAGCTGC>-	NCI-TCGA
TP53	P04637	p.Gln144ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675182_7675183insT	NCI-TCGA
TP53	P04637	p.Gln144Ter	RCV000785285	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675182G>A	ClinVar
TP53	P04637	p.Gln144Pro	RCV000166212	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675181T>G	ClinVar
TP53	P04637	p.Gln144His	RCV000441498	missense variant	Neoplasm of the breast	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000434320	missense variant	-	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000443135	missense variant	Neoplasm of the breast	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000434521	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144His	RCV000437256	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144His	RCV000425946	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144His	rs786201419	missense variant	-	NC_000017.11:g.7675180C>A	UniProt,dbSNP
TP53	P04637	p.Gln144His	VAR_044788	missense variant	-	NC_000017.11:g.7675180C>A	UniProt
TP53	P04637	p.Gln144Pro	rs786203071	missense variant	-	NC_000017.11:g.7675181T>G	UniProt,dbSNP
TP53	P04637	p.Gln144Pro	VAR_005888	missense variant	-	NC_000017.11:g.7675181T>G	UniProt
TP53	P04637	p.Gln144Ter	rs757274881	stop gained	-	NC_000017.11:g.7675182G>A	ExAC,gnomAD
TP53	P04637	p.Gln144His	RCV000418508	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144His	RCV000435752	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000443744	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144His	RCV000429945	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144His	RCV000419148	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000443056	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Lys	VAR_044789	Missense	-	-	UniProt
TP53	P04637	p.Gln144Arg	VAR_044791	Missense	-	-	UniProt
TP53	P04637	p.Leu145Gln	rs587782197	missense variant	-	NC_000017.11:g.7675178A>T	gnomAD
TP53	P04637	p.Leu145Arg	COSM1679514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675178A>C	NCI-TCGA Cosmic
TP53	P04637	p.Leu145Pro	RCV000785265	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675178A>G	ClinVar
TP53	P04637	p.Leu145Gln	RCV000565971	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675178A>T	ClinVar
TP53	P04637	p.Leu145Pro	rs587782197	missense variant	-	NC_000017.11:g.7675178A>G	gnomAD
TP53	P04637	p.Leu145Pro	rs587782197	missense variant	-	NC_000017.11:g.7675178A>G	UniProt,dbSNP
TP53	P04637	p.Leu145Pro	VAR_005889	missense variant	-	NC_000017.11:g.7675178A>G	UniProt
TP53	P04637	p.Leu145Arg	VAR_044793	Missense	-	-	UniProt
TP53	P04637	p.Leu145Val	VAR_044794	Missense	-	-	UniProt
TP53	P04637	p.Leu145Gln	VAR_005890	Missense	-	-	UniProt
TP53	P04637	p.Leu145Met	VAR_044792	Missense	-	-	UniProt
TP53	P04637	p.Trp146Ter	RCV000633358	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675174C>T	ClinVar
TP53	P04637	p.Trp146Ser	COSM417960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675175C>G	NCI-TCGA Cosmic
TP53	P04637	p.Trp146SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675166_7675175GAATCAACCC>-	NCI-TCGA
TP53	P04637	p.Trp146ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675177_7675178insA	NCI-TCGA
TP53	P04637	p.Trp146Gly	rs786203064	missense variant	-	NC_000017.11:g.7675176A>C	-
TP53	P04637	p.Trp146Gly	rs786203064	missense variant	-	NC_000017.11:g.7675176A>C	UniProt,dbSNP
TP53	P04637	p.Trp146Gly	VAR_044796	missense variant	-	NC_000017.11:g.7675176A>C	UniProt
TP53	P04637	p.Trp146Ter	rs1131691026	stop gained	-	NC_000017.11:g.7675174C>T	-
TP53	P04637	p.Trp146Ter	rs1206165503	stop gained	-	NC_000017.11:g.7675175C>T	gnomAD
TP53	P04637	p.Trp146Ter	RCV000785547	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675175C>T	ClinVar
TP53	P04637	p.Trp146Ter	RCV000492181	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675174C>T	ClinVar
TP53	P04637	p.Trp146Gly	RCV000166204	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675176A>C	ClinVar
TP53	P04637	p.Trp146Ser	VAR_044799	Missense	-	-	UniProt
TP53	P04637	p.Trp146Cys	VAR_044795	Missense	-	-	UniProt
TP53	P04637	p.Trp146Arg	VAR_044798	Missense	-	-	UniProt
TP53	P04637	p.Trp146Leu	VAR_044797	Missense	-	-	UniProt
TP53	P04637	p.Val147LeuPheSerTerUnkUnk	COSM437583	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675173C>-	NCI-TCGA Cosmic
TP53	P04637	p.Val147Gly	rs1453167097	missense variant	-	NC_000017.11:g.7675172A>C	TOPMed
TP53	P04637	p.Val147Gly	rs1453167097	missense variant	-	NC_000017.11:g.7675172A>C	UniProt,dbSNP
TP53	P04637	p.Val147Gly	VAR_005892	missense variant	-	NC_000017.11:g.7675172A>C	UniProt
TP53	P04637	p.Val147Ile	RCV000633361	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675173C>T	ClinVar
TP53	P04637	p.Val147Ile	rs1555526226	missense variant	-	NC_000017.11:g.7675173C>T	-
TP53	P04637	p.Val147Ile	rs1555526226	missense variant	-	NC_000017.11:g.7675173C>T	UniProt,dbSNP
TP53	P04637	p.Val147Ile	VAR_044803	missense variant	-	NC_000017.11:g.7675173C>T	UniProt
TP53	P04637	p.Val147Ter	RCV000785251	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675175del	ClinVar
TP53	P04637	p.Val147Phe	VAR_044802	Missense	-	-	UniProt
TP53	P04637	p.Val147Asp	VAR_005891	Missense	-	-	UniProt
TP53	P04637	p.Val147Glu	VAR_044801	Missense	-	-	UniProt
TP53	P04637	p.Val147Ala	VAR_044800	Missense	-	-	UniProt
TP53	P04637	p.Asp148Ala	rs1046611742	missense variant	-	NC_000017.11:g.7675169T>G	-
TP53	P04637	p.Asp148Tyr	rs1131691007	missense variant	-	NC_000017.11:g.7675170C>A	gnomAD
TP53	P04637	p.Asp148Tyr	rs1131691007	missense variant	-	NC_000017.11:g.7675170C>A	UniProt,dbSNP
TP53	P04637	p.Asp148Tyr	VAR_044809	missense variant	-	NC_000017.11:g.7675170C>A	UniProt
TP53	P04637	p.Asp148Tyr	RCV000492685	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675170C>A	ClinVar
TP53	P04637	p.Asp148Tyr	RCV000799619	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675170C>A	ClinVar
TP53	P04637	p.Asp148Ala	RCV000569500	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675169T>G	ClinVar
TP53	P04637	p.Asp148IlePheSerTerUnkUnk	COSM46341	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675171A>-	NCI-TCGA Cosmic
TP53	P04637	p.Asp148Asn	COSM44043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675170C>T	NCI-TCGA Cosmic
TP53	P04637	p.Asp148Gly	VAR_044806	Missense	-	-	UniProt
TP53	P04637	p.Asp148Glu	VAR_044805	Missense	-	-	UniProt
TP53	P04637	p.Asp148Val	VAR_044808	Missense	-	-	UniProt
TP53	P04637	p.Asp148Asn	VAR_044807	Missense	-	-	UniProt
TP53	P04637	p.Ser149Ter	RCV000785335	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675168dup	ClinVar
TP53	P04637	p.Ser149Ter	RCV000785501	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675168del	ClinVar
TP53	P04637	p.Ser149Ter	RCV000481047	frameshift	-	NC_000017.11:g.7675168del	ClinVar
TP53	P04637	p.Ser149PhePheSerTerUnkUnk	COSM1324767	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675166_7675167insA	NCI-TCGA Cosmic
TP53	P04637	p.Ser149ProPheSerTerUnkUnk	COSM1163644	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675167A>-	NCI-TCGA Cosmic
TP53	P04637	p.Ser149Phe	rs1555526214	missense variant	-	NC_000017.11:g.7675166G>A	UniProt,dbSNP
TP53	P04637	p.Ser149Phe	VAR_044810	missense variant	-	NC_000017.11:g.7675166G>A	UniProt
TP53	P04637	p.Ser149Phe	rs1555526214	missense variant	-	NC_000017.11:g.7675166G>A	-
TP53	P04637	p.Ser149Phe	RCV000567597	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675166G>A	ClinVar
TP53	P04637	p.Ser149Thr	VAR_044811	Missense	-	-	UniProt
TP53	P04637	p.Ser149Pro	VAR_005893	Missense	-	-	UniProt
TP53	P04637	p.Thr150Ter	RCV000582435	frameshift	-	NC_000017.11:g.7675152_7675164del	ClinVar
TP53	P04637	p.Thr150Ter	RCV000475282	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675152_7675164del	ClinVar
TP53	P04637	p.Thr150Ter	RCV000131407	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675154_7675166del	ClinVar
TP53	P04637	p.Thr150AlaPheSerTerUnkUnk	COSM111417	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675152_7675164CGGGCGGGGGTGT>-	NCI-TCGA Cosmic
TP53	P04637	p.Thr150Ala	COSM1386825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675164T>C	NCI-TCGA Cosmic
TP53	P04637	p.Thr150Pro	VAR_044816	Missense	-	-	UniProt
TP53	P04637	p.Thr150Lys	VAR_044814	Missense	-	-	UniProt
TP53	P04637	p.Thr150Ile	VAR_044813	Missense	-	-	UniProt
TP53	P04637	p.Thr150Arg	VAR_044817	Missense	-	-	UniProt
TP53	P04637	p.Thr150Ala	VAR_044812	Missense	-	-	UniProt
TP53	P04637	p.Thr150Asn	VAR_044815	Missense	-	-	UniProt
TP53	P04637	p.Pro151His	rs1057520000	missense variant	-	NC_000017.11:g.7675160G>T	UniProt,dbSNP
TP53	P04637	p.Pro151His	VAR_044818	missense variant	-	NC_000017.11:g.7675160G>T	UniProt
TP53	P04637	p.Pro151Ser	rs28934874	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>A	UniProt,dbSNP
TP53	P04637	p.Pro151Ser	VAR_005895	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>A	UniProt
TP53	P04637	p.Pro151Thr	rs28934874	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>T	UniProt,dbSNP
TP53	P04637	p.Pro151Thr	VAR_005896	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>T	UniProt
TP53	P04637	p.Pro151Ser	RCV000429847	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000433689	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000440887	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000421928	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Arg	RCV000423715	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000435893	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000424514	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151His	RCV000633371	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675160G>T	ClinVar
TP53	P04637	p.Pro151Arg	RCV000439174	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000435439	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000425600	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Ter	RCV000767320	frameshift	-	NC_000017.11:g.7675154_7675163del	ClinVar
TP53	P04637	p.Pro151Arg	RCV000430235	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000436541	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000419958	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000418846	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000440477	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Ter	RCV000119796	frameshift	Sarcoma (Liposarcoma)	NC_000017.11:g.7675154_7675163del	ClinVar
TP53	P04637	p.Pro151Leu	COSM44288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675160G>A	NCI-TCGA Cosmic
TP53	P04637	p.Pro151ArgPheSerTerUnkUnk	COSM5174080	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675153_7675160GGGCGGGG>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro151Ser	RCV000420199	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000785532	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000440140	missense variant	Neoplasm of the breast	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000432585	missense variant	Adenoid cystic carcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000443020	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000438074	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000219702	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000422996	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000426058	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Thr	RCV000013168	missense variant	Breast adenocarcinoma	NC_000017.11:g.7675161G>T	ClinVar
TP53	P04637	p.Pro151Arg	rs1057520000	missense variant	-	NC_000017.11:g.7675160G>C	UniProt,dbSNP
TP53	P04637	p.Pro151Arg	VAR_044820	missense variant	-	NC_000017.11:g.7675160G>C	UniProt
TP53	P04637	p.Pro151Ala	rs28934874	missense variant	-	NC_000017.11:g.7675161G>C	-
TP53	P04637	p.Pro151Ala	rs28934874	missense variant	-	NC_000017.11:g.7675161G>C	UniProt,dbSNP
TP53	P04637	p.Pro151Ala	VAR_005894	missense variant	-	NC_000017.11:g.7675161G>C	UniProt
TP53	P04637	p.Pro151Ser	RCV000420869	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Arg	RCV000443101	missense variant	Neoplasm of the breast	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000441608	missense variant	Adenoid cystic carcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000431352	missense variant	Neoplasm of brain	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000434196	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000419325	missense variant	-	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000421526	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Ser	RCV000443379	missense variant	-	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000435681	missense variant	Neoplasm of brain	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000427411	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000424996	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ala	RCV000459465	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>C	ClinVar
TP53	P04637	p.Pro151Ser	RCV000431507	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Leu	VAR_044819	Missense	-	-	UniProt
TP53	P04637	p.Pro152Leu	RCV000677669	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152Leu	RCV000132156	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152Leu	RCV000168122	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152ArgPheSerTerUnkUnk	COSM1180849	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675157G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro152Gln	COSM3970373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675157G>T	NCI-TCGA Cosmic
TP53	P04637	p.Pro152AlaPheSerTerUnkUnk	COSM1480077	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675146_7675158GGGTGCCGGGCGG>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro152Leu	RCV000583667	missense variant	-	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675135_7675159GGCGCGGACGCGGGTGCCGGGCGGG>-	NCI-TCGA
TP53	P04637	p.Pro152Ter	RCV000785525	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675161del	ClinVar
TP53	P04637	p.Pro152Ser	rs767328513	missense variant	-	NC_000017.11:g.7675158G>A	UniProt,dbSNP
TP53	P04637	p.Pro152Ser	VAR_005898	missense variant	-	NC_000017.11:g.7675158G>A	UniProt
TP53	P04637	p.Pro152Ser	rs767328513	missense variant	-	NC_000017.11:g.7675158G>A	ExAC,gnomAD
TP53	P04637	p.Pro152Leu	rs587782705	missense variant	-	NC_000017.11:g.7675157G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro152Leu	rs587782705	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675157G>A	UniProt,dbSNP
TP53	P04637	p.Pro152Leu	VAR_005897	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675157G>A	UniProt
TP53	P04637	p.Pro152Ter	RCV000785557	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675160_7675162delinsA	ClinVar
TP53	P04637	p.Pro152Ser	RCV000570923	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675158G>A	ClinVar
TP53	P04637	p.Pro152Leu	RCV000755703	missense variant	Familial cancer of breast	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152Ter	RCV000220919	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675151_7675163del	ClinVar
TP53	P04637	p.Pro152Ter	RCV000785289	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675151_7675163del	ClinVar
TP53	P04637	p.Pro152Arg	VAR_044823	Missense	-	-	UniProt
TP53	P04637	p.Pro152Ala	VAR_044821	Missense	-	-	UniProt
TP53	P04637	p.Pro152Gln	VAR_044822	Missense	-	-	UniProt
TP53	P04637	p.Pro152Thr	VAR_044824	Missense	-	-	UniProt
TP53	P04637	p.Pro153Ser	RCV000481578	missense variant	-	NC_000017.11:g.7675155G>A	ClinVar
TP53	P04637	p.Pro153Ser	RCV000561574	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675155G>A	ClinVar
TP53	P04637	p.Pro153Ser	RCV000795252	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675155G>A	ClinVar
TP53	P04637	p.Pro153Ter	RCV000161060	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675161dup	ClinVar
TP53	P04637	p.Pro153Ter	RCV000013155	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675161dup	ClinVar
TP53	P04637	p.Pro153ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675156_7675157insGG	NCI-TCGA
TP53	P04637	p.Pro153AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675156_7675157insA	NCI-TCGA
TP53	P04637	p.Pro153Ter	RCV000766936	frameshift	-	NC_000017.11:g.7675161dup	ClinVar
TP53	P04637	p.Pro153Ser	rs1064795860	missense variant	-	NC_000017.11:g.7675155G>A	-
TP53	P04637	p.Pro153Ser	rs1064795860	missense variant	-	NC_000017.11:g.7675155G>A	UniProt,dbSNP
TP53	P04637	p.Pro153Ser	VAR_044829	missense variant	-	NC_000017.11:g.7675155G>A	UniProt
TP53	P04637	p.Pro153AlaPheSerTerUnkUnk	rs730882019	frameshift	-	NC_000017.11:g.7675156_7675157insG	NCI-TCGA,NCI-TCGA Cosmic
TP53	P04637	p.Pro153His	VAR_044826	Missense	-	-	UniProt
TP53	P04637	p.Pro153Phe	VAR_045795	Missense	-	-	UniProt
TP53	P04637	p.Pro153Thr	VAR_005899	Missense	-	-	UniProt
TP53	P04637	p.Pro153Leu	VAR_044827	Missense	-	-	UniProt
TP53	P04637	p.Pro153Arg	VAR_044828	Missense	-	-	UniProt
TP53	P04637	p.Pro153Ala	VAR_044825	Missense	-	-	UniProt
TP53	P04637	p.Gly154Val	rs762846821	missense variant	-	NC_000017.11:g.7675151C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly154Val	rs762846821	missense variant	-	NC_000017.11:g.7675151C>A	UniProt,dbSNP
TP53	P04637	p.Gly154Val	VAR_005900	missense variant	-	NC_000017.11:g.7675151C>A	UniProt
TP53	P04637	p.Gly154Arg	RCV000567683	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675152C>G	ClinVar
TP53	P04637	p.Gly154Arg	RCV000690679	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675152C>G	ClinVar
TP53	P04637	p.Gly154Ser	RCV000119797	missense variant	Sarcoma (Liposarcoma)	NC_000017.11:g.7675152C>T	ClinVar
TP53	P04637	p.Gly154Asp	RCV000662397	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675151C>T	ClinVar
TP53	P04637	p.Gly154AlaPheSerTerUnkUnk	COSM404850	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675153G>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly154AlaPheSerTerUnkUnk	COSM1640854	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675156C>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly154AlaPheSerTerUnkUnk	COSM5315967	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675151C>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly154Arg	rs137852789	missense variant	-	NC_000017.11:g.7675152C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly154Ter	RCV000785249	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675149_7675152del	ClinVar
TP53	P04637	p.Gly154Asp	RCV000764147	missense variant	Adrenocortical carcinoma, hereditary (ADCC)	NC_000017.11:g.7675151C>T	ClinVar
TP53	P04637	p.Gly154TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675135_7675153GGCGCGGACGCGGGTGCCG>-	NCI-TCGA
TP53	P04637	p.Gly154ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675152_7675153insG	NCI-TCGA
TP53	P04637	p.Gly154Asp	RCV000492535	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675151C>T	ClinVar
TP53	P04637	p.Gly154Asp	RCV000231149	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675151C>T	ClinVar
TP53	P04637	p.Gly154Asp	rs762846821	missense variant	-	NC_000017.11:g.7675151C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly154Asp	rs762846821	missense variant	-	NC_000017.11:g.7675151C>T	UniProt,dbSNP
TP53	P04637	p.Gly154Asp	VAR_044832	missense variant	-	NC_000017.11:g.7675151C>T	UniProt
TP53	P04637	p.Gly154Ser	rs137852789	missense variant	-	NC_000017.11:g.7675152C>T	UniProt,dbSNP
TP53	P04637	p.Gly154Ser	VAR_044833	missense variant	-	NC_000017.11:g.7675152C>T	UniProt
TP53	P04637	p.Gly154Ser	rs137852789	missense variant	-	NC_000017.11:g.7675152C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly154Ile	VAR_045796	Missense	-	-	UniProt
TP53	P04637	p.Gly154Cys	VAR_044831	Missense	-	-	UniProt
TP53	P04637	p.Gly154Ala	VAR_044830	Missense	-	-	UniProt
TP53	P04637	p.Thr155Asn	rs786202752	missense variant	-	NC_000017.11:g.7675148G>T	TOPMed,gnomAD
TP53	P04637	p.Thr155Ile	COSM44033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675148G>A	NCI-TCGA Cosmic
TP53	P04637	p.Thr155Pro	COSM10912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675149T>G	NCI-TCGA Cosmic
TP53	P04637	p.Thr155SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675144_7675150GCGGGTG>-	NCI-TCGA
TP53	P04637	p.Thr155Ala	RCV000534841	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675149T>C	ClinVar
TP53	P04637	p.Thr155Ala	rs772683278	missense variant	-	NC_000017.11:g.7675149T>C	UniProt,dbSNP
TP53	P04637	p.Thr155Ala	VAR_005901	missense variant	-	NC_000017.11:g.7675149T>C	UniProt
TP53	P04637	p.Thr155Ala	rs772683278	missense variant	-	NC_000017.11:g.7675149T>C	ExAC,gnomAD
TP53	P04637	p.Thr155Ser	rs786202752	missense variant	-	NC_000017.11:g.7675148G>C	TOPMed,gnomAD
TP53	P04637	p.Thr155Asn	rs786202752	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675148G>T	UniProt,dbSNP
TP53	P04637	p.Thr155Asn	VAR_044836	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675148G>T	UniProt
TP53	P04637	p.Thr155Ser	rs786202752	missense variant	-	NC_000017.11:g.7675148G>C	UniProt,dbSNP
TP53	P04637	p.Thr155Ser	VAR_044838	missense variant	-	NC_000017.11:g.7675148G>C	UniProt
TP53	P04637	p.Thr155Ser	RCV000804037	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675148G>C	ClinVar
TP53	P04637	p.Thr155Asn	RCV000492645	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675148G>T	ClinVar
TP53	P04637	p.Thr155Pro	VAR_044837	Missense	-	-	UniProt
TP53	P04637	p.Thr155Ile	VAR_044834	Missense	-	-	UniProt
TP53	P04637	p.Thr155Met	VAR_044835	Missense	-	-	UniProt
TP53	P04637	p.Arg156Cys	RCV000764146	missense variant	Adrenocortical carcinoma, hereditary (ADCC)	NC_000017.11:g.7675146G>A	ClinVar
TP53	P04637	p.Arg156Gly	COSM45154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675146G>C	NCI-TCGA Cosmic
TP53	P04637	p.Arg156AlaPheSerTerUnkUnk	COSM44479	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675140_7675146GGACGCG>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg156Pro	RCV000785506	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675145C>G	ClinVar
TP53	P04637	p.Arg156Cys	RCV000232885	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675146G>A	ClinVar
TP53	P04637	p.Arg156Cys	RCV000409094	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675146G>A	ClinVar
TP53	P04637	p.Arg156HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675145_7675146insGGGT	NCI-TCGA
TP53	P04637	p.Arg156AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675113_7675147GTGACTGCTTGTAGATGGCCATGGCGCGGACGCGG>-	NCI-TCGA
TP53	P04637	p.Arg156ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675142_7675145ACGC>-	NCI-TCGA
TP53	P04637	p.Arg156Cys	rs563378859	missense variant	-	NC_000017.11:g.7675146G>A	TOPMed,gnomAD
TP53	P04637	p.Arg156His	rs371524413	missense variant	-	NC_000017.11:g.7675145C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg156His	rs371524413	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675145C>T	UniProt,dbSNP
TP53	P04637	p.Arg156His	VAR_044841	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675145C>T	UniProt
TP53	P04637	p.Arg156His	RCV000115722	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675145C>T	ClinVar
TP53	P04637	p.Arg156Cys	RCV000213051	missense variant	-	NC_000017.11:g.7675146G>A	ClinVar
TP53	P04637	p.Arg156Leu	VAR_044842	Missense	-	-	UniProt
TP53	P04637	p.Arg156Gly	VAR_044840	Missense	-	-	UniProt
TP53	P04637	p.Arg156Pro	VAR_005902	Missense	-	-	UniProt
TP53	P04637	p.Arg156Ser	VAR_044843	Missense	-	-	UniProt
TP53	P04637	p.Val157Asp	rs1131691023	missense variant	-	NC_000017.11:g.7675142A>T	-
TP53	P04637	p.Val157Phe	rs121912654	missense variant	-	NC_000017.11:g.7675143C>A	UniProt,dbSNP
TP53	P04637	p.Val157Phe	VAR_005904	missense variant	-	NC_000017.11:g.7675143C>A	UniProt
TP53	P04637	p.Val157Ala	RCV000492393	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675142A>G	ClinVar
TP53	P04637	p.Val157Ala	RCV000505579	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675142A>G	ClinVar
TP53	P04637	p.Val157Phe	RCV000785500	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675143C>A	ClinVar
TP53	P04637	p.Val157Ile	RCV000528459	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675143C>T	ClinVar
TP53	P04637	p.Val157Phe	RCV000566103	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675143C>A	ClinVar
TP53	P04637	p.Val157Ile	RCV000164816	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675143C>T	ClinVar
TP53	P04637	p.Val157Ile	RCV000235399	missense variant	-	NC_000017.11:g.7675143C>T	ClinVar
TP53	P04637	p.Val157Leu	COSM45120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675143C>G	NCI-TCGA Cosmic
TP53	P04637	p.Val157Gly	COSM1480073	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675142A>C	NCI-TCGA Cosmic
TP53	P04637	p.Val157HisPheSerTerUnkUnk	COSM44490	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675136_7675143GCGCGGAC>-	NCI-TCGA Cosmic
TP53	P04637	p.Val157ProPheSerTerUnkUnk	COSM4450158	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675143_7675144CG>-	NCI-TCGA Cosmic
TP53	P04637	p.Val157AlaPheSerTerUnkUnk	COSM3675456	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675142_7675143insG	NCI-TCGA Cosmic
TP53	P04637	p.Val157SerPheSerTerUnkUnk	COSM43710	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675144G>-	NCI-TCGA Cosmic
TP53	P04637	p.Val157Ter	RCV000583594	frameshift	-	NC_000017.11:g.7675139_7675146del	ClinVar
TP53	P04637	p.Val157Ile	rs121912654	missense variant	-	NC_000017.11:g.7675143C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Val157Phe	rs121912654	missense variant	-	NC_000017.11:g.7675143C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Val157Ala	rs1131691023	missense variant	-	NC_000017.11:g.7675142A>G	-
TP53	P04637	p.Val157Ala	rs1131691023	missense variant	-	NC_000017.11:g.7675142A>G	UniProt,dbSNP
TP53	P04637	p.Val157Ala	VAR_044844	missense variant	-	NC_000017.11:g.7675142A>G	UniProt
TP53	P04637	p.Val157Ile	rs121912654	missense variant	-	NC_000017.11:g.7675143C>T	UniProt,dbSNP
TP53	P04637	p.Val157Ile	VAR_012977	missense variant	-	NC_000017.11:g.7675143C>T	UniProt
TP53	P04637	p.Val157Asp	RCV000561132	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675142A>T	ClinVar
TP53	P04637	p.Val157Gly	VAR_044845	Missense	-	-	UniProt
TP53	P04637	p.Val157Asp	VAR_005903	Missense	-	-	UniProt
TP53	P04637	p.Val157Leu	VAR_044846	Missense	-	-	UniProt
TP53	P04637	p.Arg158His	RCV000255654	missense variant	-	NC_000017.11:g.7675139C>T	ClinVar
TP53	P04637	p.Arg158Ser	COSM3970360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675140G>T	NCI-TCGA Cosmic
TP53	P04637	p.Arg158AlaPheSerTerUnkUnk	COSM43781	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675140G>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg158Gly	COSM11087	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675140G>C	NCI-TCGA Cosmic
TP53	P04637	p.Arg158Cys	RCV000533951	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675140G>A	ClinVar
TP53	P04637	p.Arg158Leu	RCV000688595	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675138_7675139delinsAA	ClinVar
TP53	P04637	p.Arg158Cys	rs587780068	missense variant	-	NC_000017.11:g.7675140G>A	UniProt,dbSNP
TP53	P04637	p.Arg158Cys	VAR_005905	missense variant	-	NC_000017.11:g.7675140G>A	UniProt
TP53	P04637	p.Arg158Cys	rs587780068	missense variant	-	NC_000017.11:g.7675140G>A	ExAC,gnomAD
TP53	P04637	p.Arg158Pro	rs587782144	missense variant	-	NC_000017.11:g.7675139C>G	ExAC,gnomAD
TP53	P04637	p.Arg158Pro	rs587782144	missense variant	-	NC_000017.11:g.7675139C>G	UniProt,dbSNP
TP53	P04637	p.Arg158Pro	VAR_044848	missense variant	-	NC_000017.11:g.7675139C>G	UniProt
TP53	P04637	p.Arg158His	rs587782144	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675139C>T	UniProt,dbSNP
TP53	P04637	p.Arg158His	VAR_005907	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675139C>T	UniProt
TP53	P04637	p.Arg158Leu	rs587782144	missense variant	-	NC_000017.11:g.7675139C>A	ExAC,gnomAD
TP53	P04637	p.Arg158His	rs587782144	missense variant	-	NC_000017.11:g.7675139C>T	ExAC,gnomAD
TP53	P04637	p.Arg158Ter	RCV000785488	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675138_7675141del	ClinVar
TP53	P04637	p.Arg158Pro	RCV000236862	missense variant	-	NC_000017.11:g.7675139C>G	ClinVar
TP53	P04637	p.Arg158Leu	RCV000633348	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675139C>A	ClinVar
TP53	P04637	p.Arg158Gln	VAR_044849	Missense	-	-	UniProt
TP53	P04637	p.Arg158Ser	VAR_044850	Missense	-	-	UniProt
TP53	P04637	p.Arg158Phe	VAR_045797	Missense	-	-	UniProt
TP53	P04637	p.Arg158Gly	VAR_005906	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Arg158Leu	VAR_044847	Missense	-	-	UniProt
TP53	P04637	p.Arg158Tyr	VAR_045798	Missense	-	-	UniProt
TP53	P04637	p.Ala159Val	rs1555526131	missense variant	-	NC_000017.11:g.7675136G>A	UniProt,dbSNP
TP53	P04637	p.Ala159Val	VAR_044856	missense variant	-	NC_000017.11:g.7675136G>A	UniProt
TP53	P04637	p.Ala159Thr	rs730882000	missense variant	-	NC_000017.11:g.7675137C>T	gnomAD
TP53	P04637	p.Ala159Val	rs1555526131	missense variant	-	NC_000017.11:g.7675136G>A	-
TP53	P04637	p.Ala159Pro	RCV000785272	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675137C>G	ClinVar
TP53	P04637	p.Ala159Val	RCV000527533	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675136G>A	ClinVar
TP53	P04637	p.Ala159Phe	rs730882022	missense variant	-	NC_000017.11:g.7675136_7675137delinsAA	-
TP53	P04637	p.Ala159Pro	rs730882000	missense variant	-	NC_000017.11:g.7675137C>G	gnomAD
TP53	P04637	p.Ala159Phe	RCV000161063	missense variant	-	NC_000017.11:g.7675136_7675137delinsAA	ClinVar
TP53	P04637	p.Ala159Asp	VAR_044851	Missense	-	-	UniProt
TP53	P04637	p.Ala159Gly	VAR_044852	Missense	-	-	UniProt
TP53	P04637	p.Ala159Ser	VAR_044854	Missense	-	-	UniProt
TP53	P04637	p.Met160Val	rs377274728	missense variant	-	NC_000017.11:g.7675134T>C	gnomAD
TP53	P04637	p.Met160Ile	COSM1610860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675132C>A	NCI-TCGA Cosmic
TP53	P04637	p.Met160Ile	RCV000542402	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675132C>T	ClinVar
TP53	P04637	p.Met160Ile	RCV000218200	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675132C>T	ClinVar
TP53	P04637	p.Met160Ile	RCV000485502	missense variant	-	NC_000017.11:g.7675132C>T	ClinVar
TP53	P04637	p.Met160Leu	rs377274728	missense variant	-	NC_000017.11:g.7675134T>A	gnomAD
TP53	P04637	p.Met160Ile	rs772354334	missense variant	-	NC_000017.11:g.7675132C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Met160Ile	rs772354334	missense variant	-	NC_000017.11:g.7675132C>T	UniProt,dbSNP
TP53	P04637	p.Met160Ile	VAR_005908	missense variant	-	NC_000017.11:g.7675132C>T	UniProt
TP53	P04637	p.Met160Val	RCV000513585	missense variant	-	NC_000017.11:g.7675134T>C	ClinVar
TP53	P04637	p.Met160_Ala161delinsIleSer	VAR_047161	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met160Thr	VAR_044858	Missense	-	-	UniProt
TP53	P04637	p.Met160_Ala161delinsIleThr	VAR_047162	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met160_Ala161delinsIlePro	VAR_047160	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met160Lys	VAR_044857	Missense	-	-	UniProt
TP53	P04637	p.Ala161Ter	RCV000013180	frameshift	Osteosarcoma	NC_000017.11:g.7675131_7675137dup	ClinVar
TP53	P04637	p.Ala161Val	COSM43689	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675130G>A	NCI-TCGA Cosmic
TP53	P04637	p.Ala161Pro	COSM45501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675131C>G	NCI-TCGA Cosmic
TP53	P04637	p.Ala161Ser	COSM1610856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675131C>A	NCI-TCGA Cosmic
TP53	P04637	p.Ala161Thr	RCV000149053	missense variant	Malignant tumor of prostate	NC_000017.11:g.7675131C>T	ClinVar
TP53	P04637	p.Ala161Thr	RCV000473543	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675131C>T	ClinVar
TP53	P04637	p.Ala161GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675112_7675130TGTGACTGCTTGTAGATGG>-	NCI-TCGA
TP53	P04637	p.Ala161Asp	rs1064795691	missense variant	-	NC_000017.11:g.7675130G>T	UniProt,dbSNP
TP53	P04637	p.Ala161Asp	VAR_044860	missense variant	-	NC_000017.11:g.7675130G>T	UniProt
TP53	P04637	p.Ala161Thr	RCV000214033	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675131C>T	ClinVar
TP53	P04637	p.Ala161Thr	RCV000761073	missense variant	-	NC_000017.11:g.7675131C>T	ClinVar
TP53	P04637	p.Ala161Asp	RCV000552464	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675130G>T	ClinVar
TP53	P04637	p.Ala161Ter	RCV000013179	frameshift	Choroid plexus papilloma (CPP)	NC_000017.11:g.7675131_7675137dup	ClinVar
TP53	P04637	p.Ala161Phe	VAR_045800	Missense	-	-	UniProt
TP53	P04637	p.Ala161Gly	VAR_044861	Missense	-	-	UniProt
TP53	P04637	p.Ala161Ser	VAR_005909	Missense	-	-	UniProt
TP53	P04637	p.Ala161Pro	VAR_044862	Missense	-	-	UniProt
TP53	P04637	p.Ala161Val	VAR_044864	Missense	-	-	UniProt
TP53	P04637	p.Ile162Phe	COSM4070049	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675128T>A	NCI-TCGA Cosmic
TP53	P04637	p.Ile162Asn	COSM11966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675127A>T	NCI-TCGA Cosmic
TP53	P04637	p.Ile162Asn	COSM437560	inframe deletion	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675125_7675127AGA>-	NCI-TCGA Cosmic
TP53	P04637	p.Ile162ThrPheSerTerUnk	COSM5195325	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675127A>-	NCI-TCGA Cosmic
TP53	P04637	p.Ile162TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675128_7675129insGGCCA	NCI-TCGA
TP53	P04637	p.Ile162HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675110_7675129GCTGTGACTGCTTGTAGATG>-	NCI-TCGA
TP53	P04637	p.Ile162Ser	rs587780069	missense variant	-	NC_000017.11:g.7675127A>C	-
TP53	P04637	p.Ile162Ser	rs587780069	missense variant	-	NC_000017.11:g.7675127A>C	UniProt,dbSNP
TP53	P04637	p.Ile162Ser	VAR_005910	missense variant	-	NC_000017.11:g.7675127A>C	UniProt
TP53	P04637	p.Ile162Ser	RCV000115724	missense variant	-	NC_000017.11:g.7675127A>C	ClinVar
TP53	P04637	p.Ile162Phe	VAR_044865	Missense	-	-	UniProt
TP53	P04637	p.Ile162Thr	VAR_044868	Missense	-	-	UniProt
TP53	P04637	p.Ile162Val	VAR_005911	Missense	-	-	UniProt
TP53	P04637	p.Ile162Met	VAR_044866	Missense	-	-	UniProt
TP53	P04637	p.Ile162Asn	VAR_044867	Missense	-	-	UniProt
TP53	P04637	p.Tyr163His	rs786203436	missense variant	-	NC_000017.11:g.7675125A>G	UniProt,dbSNP
TP53	P04637	p.Tyr163His	VAR_005912	missense variant	-	NC_000017.11:g.7675125A>G	UniProt
TP53	P04637	p.Tyr163Cys	RCV000424864	missense variant	Small cell lung cancer	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000442798	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000434251	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000443833	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000419252	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000419946	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000443742	missense variant	Neoplasm of brain	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000429510	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000430191	missense variant	Neoplasm of the breast	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000435593	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000434917	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000427698	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000426124	missense variant	Neoplasm of the breast	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000440924	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000435900	missense variant	Neoplasm of brain	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000417885	missense variant	Small cell lung cancer	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000425235	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000420721	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000420162	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163LeuPheSerTerUnkUnk	COSM1324776	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675125_7675126insG	NCI-TCGA Cosmic
TP53	P04637	p.Tyr163Cys	RCV000785334	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000423543	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000436926	missense variant	-	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Ter	RCV000759375	nonsense	-	NC_000017.11:g.7675123G>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000436639	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000418859	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asn	RCV000633347	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675125A>T	ClinVar
TP53	P04637	p.Tyr163His	RCV000434193	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000444147	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000423893	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000441262	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asn	rs786203436	missense variant	-	NC_000017.11:g.7675125A>T	UniProt,dbSNP
TP53	P04637	p.Tyr163Asn	VAR_044871	missense variant	-	NC_000017.11:g.7675125A>T	UniProt
TP53	P04637	p.Tyr163Asp	rs786203436	missense variant	-	NC_000017.11:g.7675125A>C	UniProt,dbSNP
TP53	P04637	p.Tyr163Asp	VAR_044869	missense variant	-	NC_000017.11:g.7675125A>C	UniProt
TP53	P04637	p.Tyr163Asp	RCV000430982	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000443587	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000433509	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000424608	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000425645	missense variant	Neoplasm of the breast	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000431265	missense variant	-	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000438678	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000418221	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000434903	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000428451	missense variant	Small cell lung cancer	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000417511	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000423239	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000441609	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000432709	missense variant	Neoplasm of brain	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000435516	missense variant	-	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000166739	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Phe	VAR_044870	Missense	-	-	UniProt
TP53	P04637	p.Tyr163Ser	VAR_044872	Missense	-	-	UniProt
TP53	P04637	p.Lys164Asn	rs1131691034	missense variant	-	NC_000017.11:g.7675120C>G	UniProt,dbSNP
TP53	P04637	p.Lys164Asn	VAR_005913	missense variant	-	NC_000017.11:g.7675120C>G	UniProt
TP53	P04637	p.Lys164Asn	RCV000492698	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675120C>G	ClinVar
TP53	P04637	p.Lys164SerPheSerTerUnk	COSM1564175	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675118_7675121TGCT>-	NCI-TCGA Cosmic
TP53	P04637	p.Lys164AsnTer	RCV000703049	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675119_7675120delinsAG	ClinVar
TP53	P04637	p.Lys164SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675121T>-	NCI-TCGA
TP53	P04637	p.Lys164Glu	rs879254249	missense variant	-	NC_000017.11:g.7675122T>C	UniProt,dbSNP
TP53	P04637	p.Lys164Glu	VAR_044873	missense variant	-	NC_000017.11:g.7675122T>C	UniProt
TP53	P04637	p.Lys164Glu	rs879254249	missense variant	-	NC_000017.11:g.7675122T>C	-
TP53	P04637	p.Lys164Asn	rs1131691034	missense variant	-	NC_000017.11:g.7675120C>G	TOPMed
TP53	P04637	p.Lys164Glu	RCV000235745	missense variant	-	NC_000017.11:g.7675122T>C	ClinVar
TP53	P04637	p.Lys164Glu	RCV000541487	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675122T>C	ClinVar
TP53	P04637	p.Lys164Met	VAR_044874	Missense	-	-	UniProt
TP53	P04637	p.Lys164Gln	VAR_005914	Missense	-	-	UniProt
TP53	P04637	p.Lys164Thr	VAR_044876	Missense	-	-	UniProt
TP53	P04637	p.Lys164Arg	VAR_044875	Missense	-	-	UniProt
TP53	P04637	p.Gln165Ter	RCV000785484	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675119G>A	ClinVar
TP53	P04637	p.Gln165Ter	RCV000219202	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675119G>A	ClinVar
TP53	P04637	p.Gln165Lys	RCV000573450	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675119G>T	ClinVar
TP53	P04637	p.Gln165HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675117_7675118insAGCA	NCI-TCGA
TP53	P04637	p.Gln165AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675091_7675119CTCACAACCTCCGTCATGTGCTGTGACTG>-	NCI-TCGA
TP53	P04637	p.Gln165Ter	RCV000633373	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675119G>A	ClinVar
TP53	P04637	p.Gln165Ter	RCV000161028	nonsense	-	NC_000017.11:g.7675119G>A	ClinVar
TP53	P04637	p.Gln165Pro	VAR_044879	Missense	-	-	UniProt
TP53	P04637	p.Gln165His	VAR_044878	Missense	-	-	UniProt
TP53	P04637	p.Gln165Leu	VAR_005915	Missense	-	-	UniProt
TP53	P04637	p.Gln165Arg	VAR_005916	Missense	-	-	UniProt
TP53	P04637	p.Gln165Glu	VAR_044877	Missense	-	-	UniProt
TP53	P04637	p.Ser166Ter	COSM11508	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675115G>T	NCI-TCGA Cosmic
TP53	P04637	p.Ser166Ter	RCV000785317	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675115G>C	ClinVar
TP53	P04637	p.Ser166Leu	rs1555526101	missense variant	-	NC_000017.11:g.7675115G>A	UniProt,dbSNP
TP53	P04637	p.Ser166Leu	VAR_005917	missense variant	-	NC_000017.11:g.7675115G>A	UniProt
TP53	P04637	p.Ser166Leu	rs1555526101	missense variant	-	NC_000017.11:g.7675115G>A	-
TP53	P04637	p.Ser166Leu	RCV000633333	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675115G>A	ClinVar
TP53	P04637	p.Ser166Ala	VAR_044880	Missense	-	-	UniProt
TP53	P04637	p.Ser166Gly	VAR_044881	Missense	-	-	UniProt
TP53	P04637	p.Ser166Thr	VAR_044883	Missense	-	-	UniProt
TP53	P04637	p.Ser166Pro	VAR_044882	Missense	-	-	UniProt
TP53	P04637	p.Gln167Pro	RCV000580182	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675112T>G	ClinVar
TP53	P04637	p.Gln167HisPheSerTerUnk	COSM437555	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675111C>-	NCI-TCGA Cosmic
TP53	P04637	p.Gln167ThrPheSerTerUnkUnk	COSM69214	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675113_7675114insT	NCI-TCGA Cosmic
TP53	P04637	p.Gln167Ter	RCV000663165	nonsense	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675113G>A	ClinVar
TP53	P04637	p.Gln167ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675114_7675115insA	NCI-TCGA
TP53	P04637	p.Gln167Pro	rs1319163924	missense variant	-	NC_000017.11:g.7675112T>G	TOPMed,gnomAD
TP53	P04637	p.Gln167Ter	RCV000686348	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675111del	ClinVar
TP53	P04637	p.Gln167Lys	VAR_044885	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Gln167His	VAR_044884	Missense	-	-	UniProt
TP53	P04637	p.Gln167_His168delinsHisAsp	VAR_047163	deletion_insertion	-	-	UniProt
TP53	P04637	p.Gln167Leu	VAR_044886	Missense	-	-	UniProt
TP53	P04637	p.Gln167Arg	VAR_044887	Missense	-	-	UniProt
TP53	P04637	p.Gln167_His168delinsTyrLeu	VAR_047164	deletion_insertion	-	-	UniProt
TP53	P04637	p.His168Arg	RCV000702915	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675109T>C	ClinVar
TP53	P04637	p.His168Leu	COSM1649383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675109T>A	NCI-TCGA Cosmic
TP53	P04637	p.His168Pro	COSM1480069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675109T>G	NCI-TCGA Cosmic
TP53	P04637	p.His168CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675097_7675110ACCTCCGTCATGTG>-	NCI-TCGA
TP53	P04637	p.His168Val	VAR_045801	Missense	-	-	UniProt
TP53	P04637	p.His168Leu	VAR_044889	Missense	-	-	UniProt
TP53	P04637	p.His168Asp	VAR_044888	Missense	-	-	UniProt
TP53	P04637	p.His168Gln	VAR_044892	Missense	-	-	UniProt
TP53	P04637	p.His168Tyr	VAR_044893	Missense	-	-	UniProt
TP53	P04637	p.His168_Met169delinsLeuIle	VAR_047165	deletion_insertion	-	-	UniProt
TP53	P04637	p.His168Pro	VAR_044891	Missense	-	-	UniProt
TP53	P04637	p.His168Asn	VAR_044890	Missense	-	-	UniProt
TP53	P04637	p.Met169Ile	COSM357727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675105C>T	NCI-TCGA Cosmic
TP53	P04637	p.Met169Thr	COSM4070043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675106A>G	NCI-TCGA Cosmic
TP53	P04637	p.Met169Arg	RCV000689187	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675106A>C	ClinVar
TP53	P04637	p.Met169_Thr170delinsIleSer	VAR_047166	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met169Val	VAR_044895	Missense	-	-	UniProt
TP53	P04637	p.Met169Lys	VAR_044894	Missense	-	-	UniProt
TP53	P04637	p.Met169Ile	VAR_005919	Missense	-	-	UniProt
TP53	P04637	p.Met169Thr	VAR_005920	Missense	-	-	UniProt
TP53	P04637	p.Thr170Met	rs779000871	missense variant	-	NC_000017.11:g.7675103G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Thr170Met	rs779000871	missense variant	-	NC_000017.11:g.7675103G>A	UniProt,dbSNP
TP53	P04637	p.Thr170Met	VAR_005921	missense variant	-	NC_000017.11:g.7675103G>A	UniProt
TP53	P04637	p.Thr170Ala	RCV000123097	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675104T>C	ClinVar
TP53	P04637	p.Thr170Ter	RCV000759376	frameshift	-	NC_000017.11:g.7675102_7675105del	ClinVar
TP53	P04637	p.Thr170Met	RCV000478196	missense variant	-	NC_000017.11:g.7675103G>A	ClinVar
TP53	P04637	p.Thr170Ter	RCV000567372	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675102_7675105del	ClinVar
TP53	P04637	p.Thr170Arg	rs779000871	missense variant	-	NC_000017.11:g.7675103G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Thr170Ala	rs587780729	missense variant	-	NC_000017.11:g.7675104T>C	-
TP53	P04637	p.Thr170Ala	rs587780729	missense variant	-	NC_000017.11:g.7675104T>C	UniProt,dbSNP
TP53	P04637	p.Thr170Ala	VAR_044896	missense variant	-	NC_000017.11:g.7675104T>C	UniProt
TP53	P04637	p.Thr170Met	RCV000206777	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675103G>A	ClinVar
TP53	P04637	p.Thr170Met	RCV000662787	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675103G>A	ClinVar
TP53	P04637	p.Thr170Met	RCV000163119	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675103G>A	ClinVar
TP53	P04637	p.Thr170Arg	RCV000580691	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675103G>C	ClinVar
TP53	P04637	p.Thr170Lys	VAR_044897	Missense	-	-	UniProt
TP53	P04637	p.Thr170Pro	VAR_044898	Missense	-	-	UniProt
TP53	P04637	p.Thr170Ser	VAR_005922	Missense	-	-	UniProt
TP53	P04637	p.Glu171Lys	RCV000130145	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675101C>T	ClinVar
TP53	P04637	p.Glu171Lys	RCV000168226	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675101C>T	ClinVar
TP53	P04637	p.Glu171ArgPheSerTerUnk	COSM46095	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675101C>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu171LeuPheSerTerUnk	COSM437546	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675098_7675101CCTC>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu171Lys	RCV000480730	missense variant	-	NC_000017.11:g.7675101C>T	ClinVar
TP53	P04637	p.Glu171Ter	RCV000792928	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675101C>A	ClinVar
TP53	P04637	p.Glu171Ter	RCV000785509	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675101C>A	ClinVar
TP53	P04637	p.Glu171GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675100T>-	NCI-TCGA
TP53	P04637	p.Glu171GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675100_7675101insCC	NCI-TCGA
TP53	P04637	p.Glu171Lys	rs587781845	missense variant	-	NC_000017.11:g.7675101C>T	-
TP53	P04637	p.Glu171Lys	rs587781845	missense variant	-	NC_000017.11:g.7675101C>T	UniProt,dbSNP
TP53	P04637	p.Glu171Lys	VAR_044902	missense variant	-	NC_000017.11:g.7675101C>T	UniProt
TP53	P04637	p.Glu171Ala	VAR_044899	Missense	-	-	UniProt
TP53	P04637	p.Glu171Val	VAR_044904	Missense	-	-	UniProt
TP53	P04637	p.Glu171Gln	VAR_044903	Missense	-	-	UniProt
TP53	P04637	p.Glu171Asp	VAR_044900	Missense	-	-	UniProt
TP53	P04637	p.Glu171Gly	VAR_044901	Missense	-	-	UniProt
TP53	P04637	p.Val172Phe	rs1131691043	missense variant	-	NC_000017.11:g.7675098C>A	-
TP53	P04637	p.Val172Phe	rs1131691043	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675098C>A	UniProt,dbSNP
TP53	P04637	p.Val172Phe	VAR_044906	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675098C>A	UniProt
TP53	P04637	p.Val172Ala	RCV000633341	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675097A>G	ClinVar
TP53	P04637	p.Val172Phe	RCV000492688	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675098C>A	ClinVar
TP53	P04637	p.Val172Asp	COSM1161213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675097A>T	NCI-TCGA Cosmic
TP53	P04637	p.Val172LeuPheSerTerUnk	COSM45906	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675098C>-	NCI-TCGA Cosmic
TP53	P04637	p.Val172Gly	rs1131691021	missense variant	-	NC_000017.11:g.7675097A>C	-
TP53	P04637	p.Val172Gly	rs1131691021	missense variant	-	NC_000017.11:g.7675097A>C	UniProt,dbSNP
TP53	P04637	p.Val172Gly	VAR_044907	missense variant	-	NC_000017.11:g.7675097A>C	UniProt
TP53	P04637	p.Val172Ala	rs1131691021	missense variant	-	NC_000017.11:g.7675097A>G	-
TP53	P04637	p.Val172Gly	RCV000492745	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675097A>C	ClinVar
TP53	P04637	p.Val172Ile	VAR_044908	Missense	-	-	UniProt
TP53	P04637	p.Val172Ala	VAR_005923	Missense	-	-	UniProt
TP53	P04637	p.Val172Asp	VAR_044905	Missense	-	-	UniProt
TP53	P04637	p.Val173Leu	rs876660754	missense variant	-	NC_000017.11:g.7675095C>A	UniProt,dbSNP
TP53	P04637	p.Val173Leu	VAR_005925	missense variant	-	NC_000017.11:g.7675095C>A	UniProt
TP53	P04637	p.Val173Gly	RCV000807434	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675094A>C	ClinVar
TP53	P04637	p.Val173Ala	RCV000438785	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000439921	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000432237	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Glu	RCV000582350	missense variant	-	NC_000017.11:g.7675094A>T	ClinVar
TP53	P04637	p.Val173Ala	RCV000430991	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000775880	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000420735	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000437348	missense variant	Small cell lung cancer	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000438619	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000419648	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000428561	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000426247	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000420982	missense variant	Neoplasm of brain	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Met	RCV000424469	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000423333	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000418768	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173GluPheSerTerUnk	COSM298209	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675093_7675094CA>-	NCI-TCGA Cosmic
TP53	P04637	p.Val173Leu	COSM121042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675095C>G	NCI-TCGA Cosmic
TP53	P04637	p.Val173AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675079_7675094TGGGGGCAGCGCCTCA>-	NCI-TCGA
TP53	P04637	p.Val173AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675088_7675094CGCCTCA>-	NCI-TCGA
TP53	P04637	p.Val173Met	RCV000423542	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Leu	RCV000694763	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675095C>A	ClinVar
TP53	P04637	p.Val173Met	RCV000435365	missense variant	Neoplasm of brain	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000214341	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000429913	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	rs876660754	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675095C>T	UniProt,dbSNP
TP53	P04637	p.Val173Met	VAR_005926	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675095C>T	UniProt
TP53	P04637	p.Val173Ter	RCV000657325	frameshift	-	NC_000017.11:g.7675096_7675099dup	ClinVar
TP53	P04637	p.Val173Ala	RCV000445170	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000437553	missense variant	Neoplasm of the breast	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000436282	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000430804	missense variant	-	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000421990	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Met	RCV000429546	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000418173	missense variant	Neoplasm of the breast	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Ter	RCV000165358	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675097_7675101dup	ClinVar
TP53	P04637	p.Val173Met	RCV000434638	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000435180	missense variant	-	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000441217	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000418817	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000785308	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000433605	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000439338	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000440133	missense variant	Small cell lung cancer	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Trp	VAR_045802	Missense	-	-	UniProt
TP53	P04637	p.Arg174Lys	RCV000478775	missense variant	-	NC_000017.11:g.7675091C>T	ClinVar
TP53	P04637	p.Arg174Trp	COSM131454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675092T>A	NCI-TCGA Cosmic
TP53	P04637	p.Arg174SerPheSerTerUnkUnk	COSM44725	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675090C>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg174ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675085_7675092CAGCGCCT>-	NCI-TCGA
TP53	P04637	p.Arg174Gly	RCV000205095	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675092T>C	ClinVar
TP53	P04637	p.Arg174Lys	rs1064796681	missense variant	-	NC_000017.11:g.7675091C>T	-
TP53	P04637	p.Arg174Gly	rs864622115	missense variant	-	NC_000017.11:g.7675092T>C	-
TP53	P04637	p.Arg174Trp	VAR_044915	Missense	-	-	UniProt
TP53	P04637	p.Arg174Ser	VAR_044913	Missense	-	-	UniProt
TP53	P04637	p.Arg174Met	VAR_044912	Missense	-	-	UniProt
TP53	P04637	p.Arg174Thr	VAR_044914	Missense	-	-	UniProt
TP53	P04637	p.Arg175Leu	rs28934578	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7675088C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg175Cys	rs138729528	missense variant	-	NC_000017.11:g.7675089G>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg175His	rs28934578	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7675088C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg175Leu	RCV000161065	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675088C>A	ClinVar
TP53	P04637	p.Arg175Cys	RCV000704159	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675089G>A	ClinVar
TP53	P04637	p.Arg175Gly	RCV000459914	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675089G>C	ClinVar
TP53	P04637	p.Arg175Cys	RCV000235329	missense variant	-	NC_000017.11:g.7675089G>A	ClinVar
TP53	P04637	p.Arg175His	RCV000428918	missense variant	Neoplasm of the breast	NC_000017.11:g.7675088C>T	ClinVar
TP53	P04637	p.Arg175ProPheSerTerUnkUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7675088_7675089insGCCTCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATG	NCI-TCGA
TP53	P04637	p.Arg175Leu	rs28934578	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675088C>A	UniProt,dbSNP
TP53	P04637	p.Arg175Leu	VAR_005930	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675088C>A	UniProt
TP53	P04637	p.Arg175His	rs28934578	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675088C>T	UniProt,dbSNP
TP53	P04637	p.Arg175His	VAR_005932	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675088C>T	UniProt
TP53	P04637	p.Arg175Cys	rs138729528	missense variant	-	NC_000017.11:g.7675089G>A	UniProt,dbSNP
TP53	P04637	p.Arg175Cys	VAR_005928	missense variant	-	NC_000017.11:g.7675089G>A	UniProt
TP53	P04637	p.Arg175Gly	rs138729528	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675089G>C	UniProt,dbSNP
TP53	P04637	p.Arg175Gly	VAR_005929	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675089G>C	UniProt
TP53	P04637	p.Arg175Gly	rs138729528	missense variant	-	NC_000017.11:g.7675089G>C	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg175Ser	VAR_044917	Missense	-	-	UniProt
TP53	P04637	p.Arg175Pro	VAR_005931	Missense	-	-	UniProt
TP53	P04637	p.Arg175Gln	VAR_044916	Missense	-	-	UniProt
TP53	P04637	p.Cys176Trp	RCV000567103	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675084G>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000439156	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000425147	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000426275	missense variant	Neoplasm of the breast	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000430876	missense variant	-	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000437830	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000428520	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000427160	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Gly	RCV000433975	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Gly	RCV000445223	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Arg	RCV000425379	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000426543	missense variant	Neoplasm of brain	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000420420	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Ser	RCV000442242	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000432450	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Arg	RCV000419497	missense variant	Neoplasm of brain	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000417996	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Arg	RCV000436082	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000431070	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000436236	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000422633	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000433667	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Ser	RCV000436945	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000434994	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000428308	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Ser	RCV000420646	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000441815	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000434565	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000444511	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000438958	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Ser	RCV000425621	missense variant	Neoplasm of brain	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000444713	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000417784	missense variant	-	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Arg	RCV000431573	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000430429	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Ser	RCV000417611	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000439618	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Trp	RCV000530055	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675084G>C	ClinVar
TP53	P04637	p.Cys176Phe	RCV000440706	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000442295	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176AlaPheSerTerUnkUnk	COSM44759	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675086A>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys176Ter	COSM179822	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675084G>T	NCI-TCGA Cosmic
TP53	P04637	p.Cys176Ser	COSM3773309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675085C>G	NCI-TCGA Cosmic
TP53	P04637	p.Cys176Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7675084_7675085insT	NCI-TCGA
TP53	P04637	p.Cys176Phe	RCV000445093	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000423829	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000429162	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Tyr	RCV000461158	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675085C>T	ClinVar
TP53	P04637	p.Cys176Phe	RCV000424063	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000440448	missense variant	Neoplasm of brain	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	rs786202962	missense variant	-	NC_000017.11:g.7675085C>A	UniProt,dbSNP
TP53	P04637	p.Cys176Phe	VAR_005933	missense variant	-	NC_000017.11:g.7675085C>A	UniProt
TP53	P04637	p.Cys176Tyr	rs786202962	missense variant	-	NC_000017.11:g.7675085C>T	UniProt,dbSNP
TP53	P04637	p.Cys176Tyr	VAR_044921	missense variant	-	NC_000017.11:g.7675085C>T	UniProt
TP53	P04637	p.Cys176Ser	rs967461896	missense variant	-	NC_000017.11:g.7675086A>T	-
TP53	P04637	p.Cys176Phe	rs786202962	missense variant	-	NC_000017.11:g.7675085C>A	gnomAD
TP53	P04637	p.Cys176Arg	rs967461896	missense variant	-	NC_000017.11:g.7675086A>G	-
TP53	P04637	p.Cys176Trp	rs1057519980	missense variant	-	NC_000017.11:g.7675084G>C	UniProt,dbSNP
TP53	P04637	p.Cys176Trp	VAR_005934	missense variant	-	NC_000017.11:g.7675084G>C	UniProt
TP53	P04637	p.Cys176Trp	rs1057519980	missense variant	-	NC_000017.11:g.7675084G>C	gnomAD
TP53	P04637	p.Cys176Tyr	rs786202962	missense variant	-	NC_000017.11:g.7675085C>T	gnomAD
TP53	P04637	p.Cys176Arg	RCV000785487	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675084_7675086delinsCCG	ClinVar
TP53	P04637	p.Cys176Gly	RCV000785535	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000437617	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000442522	missense variant	Neoplasm of the breast	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Arg	RCV000423671	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000421755	missense variant	Neoplasm of the breast	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000436752	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Ser	RCV000427846	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000419681	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000423257	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000439650	missense variant	-	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000785469	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Phe	RCV000423447	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000434780	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000435143	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000445073	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000424490	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000429805	missense variant	Neoplasm of the breast	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000431923	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000425950	missense variant	-	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Gly	VAR_044918	Missense	-	-	UniProt
TP53	P04637	p.Cys176Arg	VAR_044919	Missense	-	-	UniProt
TP53	P04637	p.Cys176_Pro177delinsPheSer	VAR_047167	deletion_insertion	-	-	UniProt
TP53	P04637	p.Pro177Leu	rs751477326	missense variant	-	NC_000017.11:g.7675082G>A	ExAC,gnomAD
TP53	P04637	p.Pro177Arg	RCV000540639	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675082G>C	ClinVar
TP53	P04637	p.Pro177Thr	RCV000574871	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675083G>T	ClinVar
TP53	P04637	p.Pro177Thr	RCV000687535	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675083G>T	ClinVar
TP53	P04637	p.Pro177His	COSM45326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675082G>T	NCI-TCGA Cosmic
TP53	P04637	p.Pro177Leu	RCV000477631	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675082G>A	ClinVar
TP53	P04637	p.Pro177Ser	rs147002414	missense variant	-	NC_000017.11:g.7675083G>A	UniProt,dbSNP
TP53	P04637	p.Pro177Ser	VAR_044924	missense variant	-	NC_000017.11:g.7675083G>A	UniProt
TP53	P04637	p.Pro177Ser	rs147002414	missense variant	-	NC_000017.11:g.7675083G>A	-
TP53	P04637	p.Pro177Thr	rs147002414	missense variant	-	NC_000017.11:g.7675083G>T	-
TP53	P04637	p.Pro177Arg	rs751477326	missense variant	-	NC_000017.11:g.7675082G>C	ExAC,gnomAD
TP53	P04637	p.Pro177Leu	RCV000759377	missense variant	-	NC_000017.11:g.7675082G>A	ClinVar
TP53	P04637	p.Pro177Ala	VAR_044922	Missense	-	-	UniProt
TP53	P04637	p.Pro177His	VAR_044923	Missense	-	-	UniProt
TP53	P04637	p.Pro177Phe	VAR_045803	Missense	-	-	UniProt
TP53	P04637	p.Pro177Ile	VAR_045804	Missense	-	-	UniProt
TP53	P04637	p.Pro177Thr	VAR_044925	Missense	-	-	UniProt
TP53	P04637	p.His178Asn	RCV000485632	missense variant	-	NC_000017.11:g.7675080G>T	ClinVar
TP53	P04637	p.His178Asp	RCV000575494	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675080G>C	ClinVar
TP53	P04637	p.His178ThrPheSerTerUnkUnk	COSM111495	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675080G>-	NCI-TCGA Cosmic
TP53	P04637	p.His178Tyr	COSM44120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675080G>A	NCI-TCGA Cosmic
TP53	P04637	p.His178ProPheSerTerUnk	COSM1630425	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675079_7675080insG	NCI-TCGA Cosmic
TP53	P04637	p.His178ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675079T>-	NCI-TCGA
TP53	P04637	p.His178GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675078_7675079insT	NCI-TCGA
TP53	P04637	p.His178ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675080_7675081GG>-	NCI-TCGA
TP53	P04637	p.His178ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675079_7675080insGG	NCI-TCGA
TP53	P04637	p.His178Ter	RCV000785267	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675072_7675079del	ClinVar
TP53	P04637	p.His178Gln	RCV000698003	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675078G>T	ClinVar
TP53	P04637	p.His178Ter	RCV000215848	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675084del	ClinVar
TP53	P04637	p.His178Pro	rs1555526004	missense variant	-	NC_000017.11:g.7675079T>G	-
TP53	P04637	p.His178Pro	rs1555526004	missense variant	-	NC_000017.11:g.7675079T>G	UniProt,dbSNP
TP53	P04637	p.His178Pro	VAR_044929	missense variant	-	NC_000017.11:g.7675079T>G	UniProt
TP53	P04637	p.His178Asn	rs1064795203	missense variant	-	NC_000017.11:g.7675080G>T	UniProt,dbSNP
TP53	P04637	p.His178Asn	VAR_044928	missense variant	-	NC_000017.11:g.7675080G>T	UniProt
TP53	P04637	p.His178Pro	RCV000562255	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675079T>G	ClinVar
TP53	P04637	p.His178Asp	RCV000633339	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675080G>C	ClinVar
TP53	P04637	p.His178Ter	RCV000785474	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675084del	ClinVar
TP53	P04637	p.His178Ter	RCV000013176	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675084del	ClinVar
TP53	P04637	p.His178Leu	VAR_044927	Missense	-	-	UniProt
TP53	P04637	p.His178_His179delinsGlnSer	VAR_047168	deletion_insertion	-	-	UniProt
TP53	P04637	p.His178Asp	VAR_044926	Missense	-	-	UniProt
TP53	P04637	p.His178Tyr	VAR_044932	Missense	-	-	UniProt
TP53	P04637	p.His178insHisProHisPro	VAR_005936	inframe_insertion	-	-	UniProt
TP53	P04637	p.His178Arg	VAR_044931	Missense	-	-	UniProt
TP53	P04637	p.His178Gln	VAR_044930	Missense	-	-	UniProt
TP53	P04637	p.His179Arg	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>C	gnomAD
TP53	P04637	p.His179Asn	rs587780070	missense variant	-	NC_000017.11:g.7675077G>T	UniProt,dbSNP
TP53	P04637	p.His179Asn	VAR_044935	missense variant	-	NC_000017.11:g.7675077G>T	UniProt
TP53	P04637	p.His179Arg	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>C	UniProt,dbSNP
TP53	P04637	p.His179Arg	VAR_044938	missense variant	-	NC_000017.11:g.7675076T>C	UniProt
TP53	P04637	p.His179Gln	rs876660821	missense variant	-	NC_000017.11:g.7675075A>T	gnomAD
TP53	P04637	p.His179Leu	RCV000438217	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000418835	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000433456	missense variant	-	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000421433	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000441519	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000443637	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000418129	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Arg	RCV000529132	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675076T>C	ClinVar
TP53	P04637	p.His179Leu	RCV000420124	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000421837	missense variant	Glioblastoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000432547	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000438275	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000427941	missense variant	Neoplasm of brain	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000427330	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000429543	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000427925	missense variant	Small cell lung cancer	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000433134	missense variant	Small cell lung cancer	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000438631	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000439318	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000443703	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000435347	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000444683	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000421224	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000432531	missense variant	-	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000428125	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000431234	missense variant	Neoplasm of brain	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000444694	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Asp	RCV000431709	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000437679	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000428854	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000427283	missense variant	Neoplasm of brain	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000424030	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000421694	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000430072	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000434725	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000425288	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000420116	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000419821	missense variant	Small cell lung cancer	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asn	RCV000695193	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675077G>T	ClinVar
TP53	P04637	p.His179Tyr	RCV000424007	missense variant	Small cell lung cancer	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000436095	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Gln	RCV000464573	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675075A>T	ClinVar
TP53	P04637	p.His179Asp	RCV000444860	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000424716	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000434379	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000426383	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000419735	missense variant	Glioblastoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000423688	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000663095	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000419024	missense variant	-	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000440707	missense variant	Neoplasm of brain	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000785312	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000430612	missense variant	-	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000431956	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000444364	missense variant	Neoplasm of the breast	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000444992	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000436443	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000430411	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	rs587780070	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675077G>A	UniProt,dbSNP
TP53	P04637	p.His179Tyr	VAR_044939	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675077G>A	UniProt
TP53	P04637	p.His179Gln	rs876660821	missense variant	-	NC_000017.11:g.7675075A>C	UniProt,dbSNP
TP53	P04637	p.His179Gln	VAR_044937	missense variant	-	NC_000017.11:g.7675075A>C	UniProt
TP53	P04637	p.His179Asp	rs587780070	missense variant	-	NC_000017.11:g.7675077G>C	UniProt,dbSNP
TP53	P04637	p.His179Asp	VAR_044933	missense variant	-	NC_000017.11:g.7675077G>C	UniProt
TP53	P04637	p.His179Asp	rs587780070	missense variant	-	NC_000017.11:g.7675077G>C	gnomAD
TP53	P04637	p.His179Gln	rs876660821	missense variant	-	NC_000017.11:g.7675075A>C	gnomAD
TP53	P04637	p.His179Asn	rs587780070	missense variant	-	NC_000017.11:g.7675077G>T	gnomAD
TP53	P04637	p.His179Leu	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>A	UniProt,dbSNP
TP53	P04637	p.His179Leu	VAR_044934	missense variant	-	NC_000017.11:g.7675076T>A	UniProt
TP53	P04637	p.His179Pro	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>G	gnomAD
TP53	P04637	p.His179Tyr	rs587780070	missense variant	-	NC_000017.11:g.7675077G>A	gnomAD
TP53	P04637	p.His179Pro	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>G	UniProt,dbSNP
TP53	P04637	p.His179Pro	VAR_044936	missense variant	-	NC_000017.11:g.7675076T>G	UniProt
TP53	P04637	p.His179Asp	RCV000441771	missense variant	Glioblastoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000443866	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000431087	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000440222	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000441827	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000436304	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000435360	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000423020	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000423899	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000436622	missense variant	Neoplasm of the breast	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000444227	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Pro	RCV000439058	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000422328	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000427172	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000427517	missense variant	Neoplasm of the breast	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000420510	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000426919	missense variant	Glioblastoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000444604	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000437164	missense variant	Neoplasm of the breast	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000432746	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000439930	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000434884	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000426806	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>A	gnomAD
TP53	P04637	p.His179Gln	RCV000815181	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675075A>C	ClinVar
TP53	P04637	p.His179Ter	RCV000704693	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675077_7675095dup	ClinVar
TP53	P04637	p.Glu180Lys	RCV000235571	missense variant	-	NC_000017.11:g.7675074C>T	ClinVar
TP53	P04637	p.Glu180Ter	RCV000785283	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675074C>A	ClinVar
TP53	P04637	p.Glu180Lys	rs879253911	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675074C>T	UniProt,dbSNP
TP53	P04637	p.Glu180Lys	VAR_044943	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675074C>T	UniProt
TP53	P04637	p.Glu180Lys	rs879253911	missense variant	-	NC_000017.11:g.7675074C>T	-
TP53	P04637	p.Glu180Lys	RCV000544036	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675074C>T	ClinVar
TP53	P04637	p.Glu180Lys	RCV000492319	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675074C>T	ClinVar
TP53	P04637	p.Glu180Gly	VAR_044942	Missense	-	-	UniProt
TP53	P04637	p.Glu180Asp	VAR_044941	Missense	-	-	UniProt
TP53	P04637	p.Glu180Val	VAR_044945	Missense	-	-	UniProt
TP53	P04637	p.Glu180Gln	VAR_044944	Missense	-	-	UniProt
TP53	P04637	p.Glu180Ala	VAR_044940	Missense	-	-	UniProt
TP53	P04637	p.Arg181Leu	rs397514495	missense variant	Glioma susceptibility 1 (glm1)	NC_000017.11:g.7675070C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg181Leu	RCV000692266	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675070C>A	ClinVar
TP53	P04637	p.Arg181His	RCV000255239	missense variant	-	NC_000017.11:g.7675070C>T	ClinVar
TP53	P04637	p.Arg181Ser	RCV000222957	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675071G>T	ClinVar
TP53	P04637	p.Arg181His	RCV000576528	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675070C>T	ClinVar
TP53	P04637	p.Arg181Pro	COSM45046	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7675070C>G	NCI-TCGA Cosmic
TP53	P04637	p.Arg181LeuPheSerTerUnk	COSM5369730	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675069_7675070GC>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg181Ser	RCV000799329	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675071G>T	ClinVar
TP53	P04637	p.Arg181His	rs397514495	missense variant	Glioma susceptibility 1 (glm1)	NC_000017.11:g.7675070C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg181Ser	rs587782596	missense variant	-	NC_000017.11:g.7675071G>T	UniProt,dbSNP
TP53	P04637	p.Arg181Ser	VAR_044950	missense variant	-	NC_000017.11:g.7675071G>T	UniProt
TP53	P04637	p.Arg181Ser	rs587782596	missense variant	-	NC_000017.11:g.7675071G>T	TOPMed
TP53	P04637	p.Arg181His	rs397514495	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675070C>T	UniProt,dbSNP
TP53	P04637	p.Arg181His	VAR_044948	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675070C>T	UniProt
TP53	P04637	p.Arg181Leu	rs397514495	missense variant	-	NC_000017.11:g.7675070C>A	UniProt,dbSNP
TP53	P04637	p.Arg181Leu	VAR_005937	missense variant	-	NC_000017.11:g.7675070C>A	UniProt
TP53	P04637	p.Arg181His	RCV000131382	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675070C>T	ClinVar
TP53	P04637	p.Arg181Cys	RCV000236276	missense variant	-	NC_000017.11:g.7675071G>A	ClinVar
TP53	P04637	p.Arg181Cys	rs587782596	missense variant	-	NC_000017.11:g.7675071G>A	TOPMed
TP53	P04637	p.Arg181Cys	rs587782596	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675071G>A	UniProt,dbSNP
TP53	P04637	p.Arg181Cys	VAR_044946	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675071G>A	UniProt
TP53	P04637	p.Arg181Gly	VAR_044947	Missense	-	-	UniProt
TP53	P04637	p.Arg181Pro	VAR_044949	Missense	-	-	UniProt
TP53	P04637	p.Cys182Ter	RCV000785517	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675067del	ClinVar
TP53	P04637	p.Cys182Trp	RCV000485383	missense variant	-	NC_000017.11:g.7675066G>C	ClinVar
TP53	P04637	p.Cys182Trp	rs1064796257	missense variant	-	NC_000017.11:g.7675066G>C	-
TP53	P04637	p.Cys182Tyr	VAR_044952	Missense	-	-	UniProt
TP53	P04637	p.Cys182Arg	VAR_044951	Missense	-	-	UniProt
TP53	P04637	p.Cys182Ser	VAR_005938	Missense	-	-	UniProt
TP53	P04637	p.Ser183Ter	COSM11717	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675064G>T	NCI-TCGA Cosmic
TP53	P04637	p.Ser183Leu	RCV000565655	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675064G>A	ClinVar
TP53	P04637	p.Ser183Leu	rs1555525970	missense variant	-	NC_000017.11:g.7675064G>A	-
TP53	P04637	p.Ser183Leu	rs1555525970	missense variant	-	NC_000017.11:g.7675064G>A	UniProt,dbSNP
TP53	P04637	p.Ser183Leu	VAR_044953	missense variant	-	NC_000017.11:g.7675064G>A	UniProt
TP53	P04637	p.Ser183Ter	RCV000785319	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675064G>C	ClinVar
TP53	P04637	p.Ser183Pro	VAR_044954	Missense	-	-	UniProt
TP53	P04637	p.Asp184AlaPheSerTerUnkUnk	COSM44179	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7675058_7675061CTAT>-	NCI-TCGA Cosmic
TP53	P04637	p.Asp184Gly	rs1060501209	missense variant	-	NC_000017.11:g.7675061T>C	-
TP53	P04637	p.Asp184Ter	RCV000785502	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675061del	ClinVar
TP53	P04637	p.Asp184Gly	RCV000462657	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675061T>C	ClinVar
TP53	P04637	p.Asp184Tyr	VAR_005939	Missense	-	-	UniProt
TP53	P04637	p.Asp184Val	VAR_044957	Missense	-	-	UniProt
TP53	P04637	p.Asp184His	VAR_044956	Missense	-	-	UniProt
TP53	P04637	p.Ser185Asn	RCV000129849	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675058C>T	ClinVar
TP53	P04637	p.Ser185Asn	RCV000662659	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675058C>T	ClinVar
TP53	P04637	p.Ser185Asn	RCV000233843	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675058C>T	ClinVar
TP53	P04637	p.Ser185Asn	rs150607408	missense variant	-	NC_000017.11:g.7675058C>T	UniProt,dbSNP
TP53	P04637	p.Ser185Asn	VAR_044961	missense variant	-	NC_000017.11:g.7675058C>T	UniProt
TP53	P04637	p.Ser185Asn	rs150607408	missense variant	-	NC_000017.11:g.7675058C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ser185Ile	VAR_044960	Missense	-	-	UniProt
TP53	P04637	p.Ser185Thr	VAR_044963	Missense	-	-	UniProt
TP53	P04637	p.Ser185Arg	VAR_044962	Missense	-	-	UniProt
TP53	P04637	p.Ser185Cys	VAR_044958	Missense	-	-	UniProt
TP53	P04637	p.Ser185Gly	VAR_044959	Missense	-	-	UniProt
TP53	P04637	p.Asp186Asn	RCV000467183	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675056C>T	ClinVar
TP53	P04637	p.Asp186Asn	RCV000571882	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675056C>T	ClinVar
TP53	P04637	p.Asp186ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7675055T>-	NCI-TCGA
TP53	P04637	p.Asp186Asn	rs1060501206	missense variant	-	NC_000017.11:g.7675056C>T	gnomAD
TP53	P04637	p.Asp186Glu	rs375275361	missense variant	-	NC_000017.11:g.7675054A>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Asp186Glu	RCV000470622	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675054A>T	ClinVar
TP53	P04637	p.Asp186Asn	RCV000481372	missense variant	-	NC_000017.11:g.7675056C>T	ClinVar
TP53	P04637	p.Asp186Glu	RCV000235477	missense variant	-	NC_000017.11:g.7675054A>T	ClinVar
TP53	P04637	p.Asp186Tyr	VAR_005940	Missense	-	-	UniProt
TP53	P04637	p.Asp186Val	VAR_044968	Missense	-	-	UniProt
TP53	P04637	p.Asp186His	VAR_044966	Missense	-	-	UniProt
TP53	P04637	p.Asp186Gly	VAR_044965	Missense	-	-	UniProt
TP53	P04637	p.Gly187Asp	RCV000483175	missense variant	-	NC_000017.11:g.7674971C>T	ClinVar
TP53	P04637	p.Gly187Ser	rs776167460	missense variant	-	NC_000017.11:g.7675053C>T	UniProt,dbSNP
TP53	P04637	p.Gly187Ser	VAR_005942	missense variant	-	NC_000017.11:g.7675053C>T	UniProt
TP53	P04637	p.Gly187Ser	rs776167460	missense variant	-	NC_000017.11:g.7675053C>T	ExAC
TP53	P04637	p.Gly187Asp	rs1064795841	missense variant	-	NC_000017.11:g.7674971C>T	-
TP53	P04637	p.Gly187Asp	VAR_044969	Missense	-	-	UniProt
TP53	P04637	p.Gly187Arg	VAR_044970	Missense	-	-	UniProt
TP53	P04637	p.Gly187Val	VAR_044971	Missense	-	-	UniProt
TP53	P04637	p.Gly187Asn	VAR_045805	Missense	-	-	UniProt
TP53	P04637	p.Gly187Cys	VAR_005941	Missense	-	-	UniProt
TP53	P04637	p.Leu188Pro	rs1199893366	missense variant	-	NC_000017.11:g.7674968A>G	TOPMed
TP53	P04637	p.Leu188Pro	rs1199893366	missense variant	-	NC_000017.11:g.7674968A>G	UniProt,dbSNP
TP53	P04637	p.Leu188Pro	VAR_044972	missense variant	-	NC_000017.11:g.7674968A>G	UniProt
TP53	P04637	p.Leu188ThrPheSerTerUnkUnk	COSM1324790	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674969_7674970insT	NCI-TCGA Cosmic
TP53	P04637	p.Leu188GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674968_7674969AG>-	NCI-TCGA
TP53	P04637	p.Leu188Val	VAR_044973	Missense	-	-	UniProt
TP53	P04637	p.Ala189Ser	rs1555525921	missense variant	-	NC_000017.11:g.7674966C>A	-
TP53	P04637	p.Ala189Ser	rs1555525921	missense variant	-	NC_000017.11:g.7674966C>A	UniProt,dbSNP
TP53	P04637	p.Ala189Ser	VAR_044976	missense variant	-	NC_000017.11:g.7674966C>A	UniProt
TP53	P04637	p.Ala189Val	rs121912665	missense variant	-	NC_000017.11:g.7674965G>A	UniProt,dbSNP
TP53	P04637	p.Ala189Val	VAR_044978	missense variant	-	NC_000017.11:g.7674965G>A	UniProt
TP53	P04637	p.Ala189Val	rs121912665	missense variant	-	NC_000017.11:g.7674965G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Ala189Val	RCV000013182	missense variant	Familial colorectal cancer (CRC)	NC_000017.11:g.7674965G>A	ClinVar
TP53	P04637	p.Ala189ProPheSerTerUnkUnk	COSM45750	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674966C>-	NCI-TCGA Cosmic
TP53	P04637	p.Ala189AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674949_7674965AAGATGCTGAGGAGGGG>-	NCI-TCGA
TP53	P04637	p.Ala189Ser	RCV000633369	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674966C>A	ClinVar
TP53	P04637	p.Ala189Pro	VAR_005943	Missense	-	-	UniProt
TP53	P04637	p.Ala189Gly	VAR_044975	Missense	-	-	UniProt
TP53	P04637	p.Ala189Asp	VAR_044974	Missense	-	-	UniProt
TP53	P04637	p.Ala189Thr	VAR_044977	Missense	-	-	UniProt
TP53	P04637	p.Pro190Leu	rs876660825	missense variant	-	NC_000017.11:g.7674962G>A	UniProt,dbSNP
TP53	P04637	p.Pro190Leu	VAR_005944	missense variant	-	NC_000017.11:g.7674962G>A	UniProt
TP53	P04637	p.Pro190Leu	rs876660825	missense variant	-	NC_000017.11:g.7674962G>A	-
TP53	P04637	p.Pro190Arg	rs876660825	missense variant	-	NC_000017.11:g.7674962G>C	-
TP53	P04637	p.Pro190Arg	rs876660825	missense variant	-	NC_000017.11:g.7674962G>C	UniProt,dbSNP
TP53	P04637	p.Pro190Arg	VAR_044981	missense variant	-	NC_000017.11:g.7674962G>C	UniProt
TP53	P04637	p.Pro190Leu	RCV000551566	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674962G>A	ClinVar
TP53	P04637	p.Pro190Leu	RCV000484792	missense variant	-	NC_000017.11:g.7674962G>A	ClinVar
TP53	P04637	p.Pro190Thr	rs876660254	missense variant	-	NC_000017.11:g.7674963G>T	UniProt,dbSNP
TP53	P04637	p.Pro190Thr	VAR_044983	missense variant	-	NC_000017.11:g.7674963G>T	UniProt
TP53	P04637	p.Pro190Thr	rs876660254	missense variant	-	NC_000017.11:g.7674963G>T	-
TP53	P04637	p.Pro190Thr	RCV000213384	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674963G>T	ClinVar
TP53	P04637	p.Pro190Arg	RCV000222080	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674962G>C	ClinVar
TP53	P04637	p.Pro190His	VAR_044980	Missense	-	-	UniProt
TP53	P04637	p.Pro190Ala	VAR_044979	Missense	-	-	UniProt
TP53	P04637	p.Pro190Ser	VAR_044982	Missense	-	-	UniProt
TP53	P04637	p.Pro191Arg	rs587778718	missense variant	-	NC_000017.11:g.7674959G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro191Leu	rs587778718	missense variant	-	NC_000017.11:g.7674959G>A	UniProt,dbSNP
TP53	P04637	p.Pro191Leu	VAR_044985	missense variant	-	NC_000017.11:g.7674959G>A	UniProt
TP53	P04637	p.Pro191Arg	RCV000662561	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674959G>C	ClinVar
TP53	P04637	p.Pro191Arg	RCV000219468	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674959G>C	ClinVar
TP53	P04637	p.Pro191SerPheSerTerUnkUnk	COSM1480064	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674960_7674961insA	NCI-TCGA Cosmic
TP53	P04637	p.Pro191Arg	RCV000205751	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674959G>C	ClinVar
TP53	P04637	p.Pro191Arg	RCV000766937	missense variant	-	NC_000017.11:g.7674959G>C	ClinVar
TP53	P04637	p.Pro191GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674944_7674959CGGATAAGATGCTGAG>-	NCI-TCGA
TP53	P04637	p.Pro191Leu	rs587778718	missense variant	-	NC_000017.11:g.7674959G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro191His	rs587778718	missense variant	-	NC_000017.11:g.7674959G>T	UniProt,dbSNP
TP53	P04637	p.Pro191His	VAR_044984	missense variant	-	NC_000017.11:g.7674959G>T	UniProt
TP53	P04637	p.Pro191Arg	rs587778718	missense variant	-	NC_000017.11:g.7674959G>C	UniProt,dbSNP
TP53	P04637	p.Pro191Arg	VAR_044986	missense variant	-	NC_000017.11:g.7674959G>C	UniProt
TP53	P04637	p.Pro191His	rs587778718	missense variant	-	NC_000017.11:g.7674959G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro191Thr	VAR_005945	Missense	-	-	UniProt
TP53	P04637	p.Gln192Ter	rs866380588	stop gained	-	NC_000017.11:g.7674957G>A	-
TP53	P04637	p.Gln192Arg	RCV000161029	missense variant	-	NC_000017.11:g.7674956T>C	ClinVar
TP53	P04637	p.Gln192SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674957G>-	NCI-TCGA
TP53	P04637	p.Gln192Arg	rs730882002	missense variant	-	NC_000017.11:g.7674956T>C	-
TP53	P04637	p.Gln192Ter	RCV000472712	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674957G>A	ClinVar
TP53	P04637	p.Gln192Pro	VAR_044991	Missense	-	-	UniProt
TP53	P04637	p.Gln192_His193delinsHisTyr	VAR_047171	deletion_insertion	-	-	UniProt
TP53	P04637	p.Gln192His	VAR_044988	Missense	-	-	UniProt
TP53	P04637	p.Gln192Leu	VAR_044990	Missense	-	-	UniProt
TP53	P04637	p.Gln192_His193delinsHisAsn	VAR_047170	deletion_insertion	-	-	UniProt
TP53	P04637	p.Gln192Lys	VAR_044989	Missense	-	-	UniProt
TP53	P04637	p.His193Asn	rs876658468	missense variant	-	NC_000017.11:g.7674954G>T	UniProt,dbSNP
TP53	P04637	p.His193Asn	VAR_044993	missense variant	-	NC_000017.11:g.7674954G>T	UniProt
TP53	P04637	p.His193Asn	rs876658468	missense variant	-	NC_000017.11:g.7674954G>T	-
TP53	P04637	p.His193Tyr	rs876658468	missense variant	-	NC_000017.11:g.7674954G>A	UniProt,dbSNP
TP53	P04637	p.His193Tyr	VAR_044996	missense variant	-	NC_000017.11:g.7674954G>A	UniProt
TP53	P04637	p.His193Tyr	rs876658468	missense variant	-	NC_000017.11:g.7674954G>A	-
TP53	P04637	p.His193Asn	RCV000420192	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000438671	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000419469	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asp	RCV000425552	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Arg	RCV000418086	missense variant	Neoplasm of the breast	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000418288	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000423052	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000444985	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asn	RCV000444677	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000419839	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000441502	missense variant	Small cell lung cancer	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Arg	RCV000434549	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000435870	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000437380	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asp	RCV000425919	missense variant	-	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Arg	RCV000445029	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000439568	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asn	RCV000437710	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000422815	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000432878	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Pro	RCV000422912	missense variant	Small cell lung cancer	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asp	RCV000419924	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000221478	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000436284	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000423524	missense variant	-	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Pro	RCV000423516	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000429618	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000444740	missense variant	-	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asp	RCV000441340	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Arg	RCV000440903	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asn	RCV000422179	missense variant	-	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000428079	missense variant	-	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Arg	RCV000445148	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000427668	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asp	RCV000419005	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Arg	RCV000164329	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000460847	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000424851	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Pro	RCV000428197	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asp	RCV000425273	missense variant	-	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Pro	RCV000429577	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asn	RCV000432133	missense variant	Neoplasm of the breast	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Pro	RCV000417520	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Tyr	RCV000421204	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Arg	RCV000433342	missense variant	Small cell lung cancer	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asp	RCV000431849	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000429902	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Arg	RCV000417979	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000432551	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Arg	RCV000435651	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000425611	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000433585	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Tyr	RCV000424900	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asn	RCV000420894	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000430089	missense variant	Neoplasm of brain	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asp	RCV000432462	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000434647	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000809571	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Pro	RCV000435420	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asn	RCV000426753	missense variant	Small cell lung cancer	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000437420	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Arg	RCV000427767	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000422374	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asn	RCV000441629	missense variant	Neoplasm of brain	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000431464	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Pro	rs786201838	missense variant	-	NC_000017.11:g.7674953T>G	UniProt,dbSNP
TP53	P04637	p.His193Pro	VAR_044994	missense variant	-	NC_000017.11:g.7674953T>G	UniProt
TP53	P04637	p.His193Asp	rs876658468	missense variant	-	NC_000017.11:g.7674954G>C	UniProt,dbSNP
TP53	P04637	p.His193Asp	VAR_005947	missense variant	-	NC_000017.11:g.7674954G>C	UniProt
TP53	P04637	p.His193Leu	rs786201838	missense variant	-	NC_000017.11:g.7674953T>A	UniProt,dbSNP
TP53	P04637	p.His193Leu	VAR_044992	missense variant	-	NC_000017.11:g.7674953T>A	UniProt
TP53	P04637	p.His193Asp	rs876658468	missense variant	-	NC_000017.11:g.7674954G>C	-
TP53	P04637	p.His193Arg	rs786201838	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674953T>C	UniProt,dbSNP
TP53	P04637	p.His193Arg	VAR_005948	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674953T>C	UniProt
TP53	P04637	p.His193Arg	RCV000439827	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000445292	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000255425	missense variant	-	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000434933	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000424475	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asn	RCV000441851	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asp	RCV000438391	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000430614	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000423999	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000445008	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asn	RCV000421458	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000433595	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asp	RCV000418378	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asn	RCV000430888	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000426264	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000412758	missense variant	-	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asn	RCV000419544	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000439335	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asp	RCV000421156	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Pro	RCV000434205	missense variant	-	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000423280	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000428340	missense variant	-	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000439433	missense variant	Neoplasm of brain	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000785346	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000418213	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Pro	RCV000435566	missense variant	Neoplasm of brain	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Leu	RCV000697802	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674953T>A	ClinVar
TP53	P04637	p.His193Pro	RCV000442541	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Pro	RCV000428877	missense variant	-	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000434391	missense variant	-	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000425998	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asp	RCV000442175	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asn	RCV000427057	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asp	RCV000436620	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000440641	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000429967	missense variant	Small cell lung cancer	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000444718	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000434704	missense variant	Neoplasm of the breast	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000440111	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000441207	missense variant	Neoplasm of the breast	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000418749	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asp	RCV000436250	missense variant	Neoplasm of brain	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Pro	RCV000440128	missense variant	Neoplasm of the breast	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Gln	VAR_044995	Missense	-	-	UniProt
TP53	P04637	p.Leu194His	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>T	UniProt,dbSNP
TP53	P04637	p.Leu194His	VAR_044998	missense variant	-	NC_000017.11:g.7674950A>T	UniProt
TP53	P04637	p.Leu194Pro	RCV000441887	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Arg	RCV000535418	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674950A>C	ClinVar
TP53	P04637	p.Leu194Pro	RCV000424516	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000442808	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000441162	missense variant	Glioblastoma	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000423937	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000433582	missense variant	Neoplasm of brain	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194His	RCV000565549	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674950A>T	ClinVar
TP53	P04637	p.Leu194Phe	RCV000429595	missense variant	Neoplasm of brain	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000439843	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000436065	missense variant	-	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000421548	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000417813	missense variant	Neoplasm of the breast	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000419908	missense variant	Glioblastoma	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000439186	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000428029	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000418414	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000426684	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000115728	missense variant	-	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674946_7674950GATAA>-	NCI-TCGA
TP53	P04637	p.Leu194GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674946_7674952GATAAGA>-	NCI-TCGA
TP53	P04637	p.Leu194Phe	rs587780071	missense variant	-	NC_000017.11:g.7674951G>A	-
TP53	P04637	p.Leu194Phe	rs587780071	missense variant	-	NC_000017.11:g.7674951G>A	UniProt,dbSNP
TP53	P04637	p.Leu194Phe	VAR_044997	missense variant	-	NC_000017.11:g.7674951G>A	UniProt
TP53	P04637	p.Leu194Pro	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>G	gnomAD
TP53	P04637	p.Leu194His	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>T	gnomAD
TP53	P04637	p.Leu194Arg	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>C	gnomAD
TP53	P04637	p.Leu194Arg	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>C	UniProt,dbSNP
TP53	P04637	p.Leu194Arg	VAR_005950	missense variant	-	NC_000017.11:g.7674950A>C	UniProt
TP53	P04637	p.Leu194Pro	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>G	UniProt,dbSNP
TP53	P04637	p.Leu194Pro	VAR_005949	missense variant	-	NC_000017.11:g.7674950A>G	UniProt
TP53	P04637	p.Leu194Phe	RCV000434383	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Arg	RCV000561306	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674950A>C	ClinVar
TP53	P04637	p.Leu194Pro	RCV000425646	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000426810	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000433343	missense variant	-	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000419057	missense variant	Neoplasm of the breast	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000436323	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Val	VAR_045000	Missense	-	-	UniProt
TP53	P04637	p.Leu194Ile	VAR_044999	Missense	-	-	UniProt
TP53	P04637	p.Ile195Thr	rs760043106	missense variant	-	NC_000017.11:g.7674947A>G	ExAC,gnomAD
TP53	P04637	p.Ile195Thr	rs760043106	missense variant	-	NC_000017.11:g.7674947A>G	UniProt,dbSNP
TP53	P04637	p.Ile195Thr	VAR_005951	missense variant	-	NC_000017.11:g.7674947A>G	UniProt
TP53	P04637	p.Ile195Phe	RCV000426791	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000420717	missense variant	Neoplasm of the breast	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000423573	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000417891	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000436319	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000433525	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000426094	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000441219	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000425266	missense variant	Glioblastoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000428137	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000433861	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000435534	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000438337	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000444892	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Met	RCV000633400	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674946G>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000427622	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000445057	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000431547	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000442296	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000421312	missense variant	Neoplasm of the breast	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000422467	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195LeuPheSerTerUnkUnk	COSM5430897	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674949_7674950insAG	NCI-TCGA Cosmic
TP53	P04637	p.Ile195AsnPheSerTerUnkUnk	COSM295517	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674947_7674948insT	NCI-TCGA Cosmic
TP53	P04637	p.Ile195SerPheSerTerUnkUnk	COSM308341	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674949A>-	NCI-TCGA Cosmic
TP53	P04637	p.Ile195Ser	RCV000437865	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674948_7674949insA	NCI-TCGA
TP53	P04637	p.Ile195Ser	RCV000421805	missense variant	Glioblastoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000429226	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Asn	RCV000692717	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674947A>T	ClinVar
TP53	P04637	p.Ile195Ser	RCV000439461	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000426991	missense variant	Neoplasm of brain	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000442729	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000437242	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000429901	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ter	RCV000785262	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674950del	ClinVar
TP53	P04637	p.Ile195Asn	rs760043106	missense variant	-	NC_000017.11:g.7674947A>T	ExAC,gnomAD
TP53	P04637	p.Ile195Asn	rs760043106	missense variant	-	NC_000017.11:g.7674947A>T	UniProt,dbSNP
TP53	P04637	p.Ile195Asn	VAR_045002	missense variant	-	NC_000017.11:g.7674947A>T	UniProt
TP53	P04637	p.Ile195Ser	rs760043106	missense variant	-	NC_000017.11:g.7674947A>C	ExAC,gnomAD
TP53	P04637	p.Ile195Ser	rs760043106	missense variant	-	NC_000017.11:g.7674947A>C	UniProt,dbSNP
TP53	P04637	p.Ile195Ser	VAR_045003	missense variant	-	NC_000017.11:g.7674947A>C	UniProt
TP53	P04637	p.Ile195Phe	rs942158624	missense variant	-	NC_000017.11:g.7674948T>A	-
TP53	P04637	p.Ile195Ser	RCV000432185	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Thr	RCV000487386	missense variant	-	NC_000017.11:g.7674947A>G	ClinVar
TP53	P04637	p.Ile195Ser	RCV000440129	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Thr	RCV000198789	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674947A>G	ClinVar
TP53	P04637	p.Ile195Phe	RCV000418677	missense variant	Neoplasm of brain	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000430955	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Leu	VAR_047172	Missense	-	-	UniProt
TP53	P04637	p.Ile195Val	VAR_045004	Missense	-	-	UniProt
TP53	P04637	p.Ile195Tyr	VAR_045806	Missense	-	-	UniProt
TP53	P04637	p.Arg196Pro	rs483352697	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674944C>G	UniProt,dbSNP
TP53	P04637	p.Arg196Pro	VAR_045007	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674944C>G	UniProt
TP53	P04637	p.Arg196Pro	rs483352697	missense variant	-	NC_000017.11:g.7674944C>G	gnomAD
TP53	P04637	p.Arg196Gly	RCV000230517	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674945G>C	ClinVar
TP53	P04637	p.Arg196Pro	RCV000440531	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000435372	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000431695	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000443813	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000440866	missense variant	Glioblastoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000436292	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000426017	missense variant	-	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000423798	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000434064	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Gln	RCV000196467	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674944C>T	ClinVar
TP53	P04637	p.Arg196Pro	RCV000216410	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Ter	RCV000205265	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674945G>A	ClinVar
TP53	P04637	p.Arg196Pro	RCV000425092	missense variant	Neoplasm of the breast	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000419494	missense variant	Small cell lung cancer	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000443927	missense variant	Neoplasm of brain	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Leu	RCV000087172	missense variant	-	NC_000017.11:g.7674944C>A	ClinVar
TP53	P04637	p.Arg196Ter	RCV000131510	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674945G>A	ClinVar
TP53	P04637	p.Arg196Leu	rs483352697	missense variant	-	NC_000017.11:g.7674944C>A	gnomAD
TP53	P04637	p.Arg196Gln	rs483352697	missense variant	-	NC_000017.11:g.7674944C>T	UniProt,dbSNP
TP53	P04637	p.Arg196Gln	VAR_045008	missense variant	-	NC_000017.11:g.7674944C>T	UniProt
TP53	P04637	p.Arg196Ter	rs397516435	stop gained	-	NC_000017.11:g.7674945G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg196Gln	rs483352697	missense variant	-	NC_000017.11:g.7674944C>T	gnomAD
TP53	P04637	p.Arg196Gly	rs397516435	missense variant	-	NC_000017.11:g.7674945G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg196Gly	rs397516435	missense variant	-	NC_000017.11:g.7674945G>C	UniProt,dbSNP
TP53	P04637	p.Arg196Gly	VAR_045005	missense variant	-	NC_000017.11:g.7674945G>C	UniProt
TP53	P04637	p.Arg196Leu	rs483352697	missense variant	-	NC_000017.11:g.7674944C>A	UniProt,dbSNP
TP53	P04637	p.Arg196Leu	VAR_045006	missense variant	-	NC_000017.11:g.7674944C>A	UniProt
TP53	P04637	p.Arg196Pro	RCV000418400	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Ter	RCV000412710	nonsense	-	NC_000017.11:g.7674945G>A	ClinVar
TP53	P04637	p.Arg196Pro	RCV000429772	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000427483	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Gln	RCV000235733	missense variant	-	NC_000017.11:g.7674944C>T	ClinVar
TP53	P04637	p.Arg196Ter	RCV000785329	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674945G>A	ClinVar
TP53	P04637	p.Arg196Pro	RCV000433800	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Gln	RCV000580263	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674944C>T	ClinVar
TP53	P04637	p.Arg196Gly	RCV000217052	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674945G>C	ClinVar
TP53	P04637	p.Arg196Ser	VAR_045009	Missense	-	-	UniProt
TP53	P04637	p.Val197Gly	COSM437521	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674941A>C	NCI-TCGA Cosmic
TP53	P04637	p.Val197IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674919_7674943CTCCACACGCAAATTTCCTTCCACT>-	NCI-TCGA
TP53	P04637	p.Val197Glu	RCV000785480	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674941A>T	ClinVar
TP53	P04637	p.Val197Met	RCV000167874	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674942C>T	ClinVar
TP53	P04637	p.Val197Leu	RCV000566652	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674942C>G	ClinVar
TP53	P04637	p.Val197Met	rs786204041	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674942C>T	UniProt,dbSNP
TP53	P04637	p.Val197Met	VAR_045013	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674942C>T	UniProt
TP53	P04637	p.Val197Met	rs786204041	missense variant	-	NC_000017.11:g.7674942C>T	gnomAD
TP53	P04637	p.Val197Leu	rs786204041	missense variant	-	NC_000017.11:g.7674942C>A	gnomAD
TP53	P04637	p.Val197Leu	rs786204041	missense variant	-	NC_000017.11:g.7674942C>G	gnomAD
TP53	P04637	p.Val197Leu	rs786204041	missense variant	-	NC_000017.11:g.7674942C>G	UniProt,dbSNP
TP53	P04637	p.Val197Leu	VAR_045012	missense variant	-	NC_000017.11:g.7674942C>G	UniProt
TP53	P04637	p.Val197Glu	RCV000811803	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674941A>T	ClinVar
TP53	P04637	p.Val197Leu	RCV000198322	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674942C>A	ClinVar
TP53	P04637	p.Val197Glu	VAR_045010	Missense	-	-	UniProt
TP53	P04637	p.Val197Gly	VAR_045011	Missense	-	-	UniProt
TP53	P04637	p.Glu198Ter	RCV000492785	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674940del	ClinVar
TP53	P04637	p.Glu198GlyPheSerTerUnkUnk	COSM1386746	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674938_7674939insC	NCI-TCGA Cosmic
TP53	P04637	p.Glu198Ter	RCV000785326	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674939C>A	ClinVar
TP53	P04637	p.Glu198Lys	VAR_005952	Missense	-	-	UniProt
TP53	P04637	p.Glu198Gly	VAR_045015	Missense	-	-	UniProt
TP53	P04637	p.Glu198Gln	VAR_045016	Missense	-	-	UniProt
TP53	P04637	p.Glu198Asp	VAR_045014	Missense	-	-	UniProt
TP53	P04637	p.Glu198Val	VAR_045017	Missense	-	-	UniProt
TP53	P04637	p.Gly199GluPheSerTerUnkUnk	COSM100022	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674937T>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly199Val	RCV000522967	missense variant	-	NC_000017.11:g.7674935C>A	ClinVar
TP53	P04637	p.Gly199IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674933_7674936TTCC>-	NCI-TCGA
TP53	P04637	p.Gly199Ter	RCV000785258	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674936C>A	ClinVar
TP53	P04637	p.Gly199Val	rs1555525857	missense variant	-	NC_000017.11:g.7674935C>A	-
TP53	P04637	p.Gly199Val	rs1555525857	missense variant	-	NC_000017.11:g.7674935C>A	UniProt,dbSNP
TP53	P04637	p.Gly199Val	VAR_045021	missense variant	-	NC_000017.11:g.7674935C>A	UniProt
TP53	P04637	p.Gly199Glu	RCV000706290	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674935C>T	ClinVar
TP53	P04637	p.Gly199Arg	VAR_045020	Missense	-	-	UniProt
TP53	P04637	p.Gly199Ala	VAR_045018	Missense	-	-	UniProt
TP53	P04637	p.Gly199Glu	VAR_045019	Missense	-	-	UniProt
TP53	P04637	p.Asn200Ter	RCV000492564	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674934del	ClinVar
TP53	P04637	p.Asn200IlePheSerTerUnkUnk	COSM255157	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674932T>-	NCI-TCGA Cosmic
TP53	P04637	p.Asn200ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674933_7674934insGCCAATATGTATGAATAGCTATGTAGTTATATAC	NCI-TCGA
TP53	P04637	p.Asn200Pro	VAR_045807	Missense	-	-	UniProt
TP53	P04637	p.Asn200Ile	VAR_045023	Missense	-	-	UniProt
TP53	P04637	p.Asn200Ser	VAR_045025	Missense	-	-	UniProt
TP53	P04637	p.Asn200Lys	VAR_045024	Missense	-	-	UniProt
TP53	P04637	p.Asn200Asp	VAR_045022	Missense	-	-	UniProt
TP53	P04637	p.Asn200Thr	VAR_045026	Missense	-	-	UniProt
TP53	P04637	p.Leu201Ter	COSM3742467	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674929A>T	NCI-TCGA Cosmic
TP53	P04637	p.Leu201PhePheSerTerUnk	COSM5215175	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674928_7674929insA	NCI-TCGA Cosmic
TP53	P04637	p.Leu201Phe	rs730882024	missense variant	-	NC_000017.11:g.7674928C>A	TOPMed
TP53	P04637	p.Leu201Ser	VAR_045029	Missense	-	-	UniProt
TP53	P04637	p.Leu201Pro	VAR_045028	Missense	-	-	UniProt
TP53	P04637	p.Leu201_Arg202delinsPheCys	VAR_047173	deletion_insertion	-	-	UniProt
TP53	P04637	p.Arg202Leu	rs587778719	missense variant	-	NC_000017.11:g.7674926C>A	UniProt,dbSNP
TP53	P04637	p.Arg202Leu	VAR_045033	missense variant	-	NC_000017.11:g.7674926C>A	UniProt
TP53	P04637	p.Arg202Cys	RCV000563913	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674927G>A	ClinVar
TP53	P04637	p.Arg202Gly	RCV000218191	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674927G>C	ClinVar
TP53	P04637	p.Arg202Leu	RCV000161030	missense variant	-	NC_000017.11:g.7674926C>A	ClinVar
TP53	P04637	p.Arg202Cys	rs587780072	missense variant	-	NC_000017.11:g.7674927G>A	UniProt,dbSNP
TP53	P04637	p.Arg202Cys	VAR_045030	missense variant	-	NC_000017.11:g.7674927G>A	UniProt
TP53	P04637	p.Arg202Cys	rs587780072	missense variant	-	NC_000017.11:g.7674927G>A	ExAC,gnomAD
TP53	P04637	p.Arg202Gly	rs587780072	missense variant	-	NC_000017.11:g.7674927G>C	ExAC,gnomAD
TP53	P04637	p.Arg202His	rs587778719	missense variant	-	NC_000017.11:g.7674926C>T	TOPMed
TP53	P04637	p.Arg202Gly	rs587780072	missense variant	-	NC_000017.11:g.7674927G>C	UniProt,dbSNP
TP53	P04637	p.Arg202Gly	VAR_045031	missense variant	-	NC_000017.11:g.7674927G>C	UniProt
TP53	P04637	p.Arg202His	rs587778719	missense variant	-	NC_000017.11:g.7674926C>T	UniProt,dbSNP
TP53	P04637	p.Arg202His	VAR_045032	missense variant	-	NC_000017.11:g.7674926C>T	UniProt
TP53	P04637	p.Arg202Leu	rs587778719	missense variant	-	NC_000017.11:g.7674926C>A	TOPMed
TP53	P04637	p.Arg202His	RCV000459232	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674926C>T	ClinVar
TP53	P04637	p.Arg202Ser	VAR_045035	Missense	-	-	UniProt
TP53	P04637	p.Arg202Pro	VAR_045034	Missense	-	-	UniProt
TP53	P04637	p.Val203Leu	rs730882003	missense variant	-	NC_000017.11:g.7674924C>A	-
TP53	P04637	p.Val203Met	RCV000460914	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674924C>T	ClinVar
TP53	P04637	p.Val203TrpPheSerTerUnkUnk	COSM45308	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674924C>-	NCI-TCGA Cosmic
TP53	P04637	p.Val203GlyPheSerTerUnk	COSM1386715	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674922_7674923CA>-	NCI-TCGA Cosmic
TP53	P04637	p.Val203Leu	RCV000695145	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674924C>A	ClinVar
TP53	P04637	p.Val203Leu	RCV000564049	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674924C>G	ClinVar
TP53	P04637	p.Val203Met	rs730882003	missense variant	-	NC_000017.11:g.7674924C>T	-
TP53	P04637	p.Val203Leu	rs730882003	missense variant	-	NC_000017.11:g.7674924C>G	-
TP53	P04637	p.Val203Leu	RCV000564461	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674924C>A	ClinVar
TP53	P04637	p.Val203Met	RCV000161031	missense variant	-	NC_000017.11:g.7674924C>T	ClinVar
TP53	P04637	p.Val203Met	RCV000492177	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674924C>T	ClinVar
TP53	P04637	p.Val203Leu	RCV000696578	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674924C>G	ClinVar
TP53	P04637	p.Val203_Glu204delinsLeuVal	VAR_047174	deletion_insertion	-	-	UniProt
TP53	P04637	p.Val203Glu	VAR_045037	Missense	-	-	UniProt
TP53	P04637	p.Val203Leu	VAR_045038	Missense	-	-	UniProt
TP53	P04637	p.Val203Ala	VAR_045036	Missense	-	-	UniProt
TP53	P04637	p.Val203Trp	VAR_045808	Missense	-	-	UniProt
TP53	P04637	p.Glu204Asp	COSM46471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674919C>G	NCI-TCGA Cosmic
TP53	P04637	p.Glu204SerPheSerTerUnkUnk	COSM437512	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674921C>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu204Gln	COSM45782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674921C>G	NCI-TCGA Cosmic
TP53	P04637	p.Glu204Ter	COSM10804	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674921C>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu204ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674919_7674920CT>-	NCI-TCGA
TP53	P04637	p.Glu204Gly	rs1260903787	missense variant	-	NC_000017.11:g.7674920T>C	TOPMed,gnomAD
TP53	P04637	p.Glu204Ter	RCV000785499	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674921_7674922delinsAG	ClinVar
TP53	P04637	p.Glu204Ala	VAR_045040	Missense	-	-	UniProt
TP53	P04637	p.Glu204Val	VAR_045045	Missense	-	-	UniProt
TP53	P04637	p.Glu204Gln	VAR_045044	Missense	-	-	UniProt
TP53	P04637	p.Glu204Asp	VAR_045041	Missense	-	-	UniProt
TP53	P04637	p.Glu204Lys	VAR_045043	Missense	-	-	UniProt
TP53	P04637	p.Tyr205Asn	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>T	UniProt,dbSNP
TP53	P04637	p.Tyr205Asn	VAR_045047	missense variant	-	NC_000017.11:g.7674918A>T	UniProt
TP53	P04637	p.Tyr205Phe	RCV000436627	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000419588	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000429897	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000443239	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000417872	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asp	RCV000462351	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674918A>C	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000418952	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000440667	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000439980	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000433474	missense variant	Glioblastoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000438926	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000443828	missense variant	Neoplasm of brain	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000436591	missense variant	Neoplasm of brain	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000704312	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000431494	missense variant	Glioblastoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000424901	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000439588	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000433236	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000442863	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000443687	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000430294	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000441249	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asp	RCV000663307	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674918A>C	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000418906	missense variant	Glioblastoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000444287	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000430410	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000424047	missense variant	Neoplasm of the breast	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000443993	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000429233	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000421916	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000434394	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000426974	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000432320	missense variant	Neoplasm of the breast	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000428760	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000444368	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000437249	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000426051	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000433698	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000424892	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000430958	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000421235	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000420753	missense variant	Neoplasm of the breast	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000443853	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000423862	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000430575	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000437254	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000422077	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000417461	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000440868	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000431652	missense variant	Glioblastoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000428672	missense variant	Neoplasm of brain	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000422980	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000437987	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000437968	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000424176	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000427034	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000422784	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000427749	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asp	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>C	UniProt,dbSNP
TP53	P04637	p.Tyr205Asp	VAR_005954	missense variant	-	NC_000017.11:g.7674918A>C	UniProt
TP53	P04637	p.Tyr205His	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>G	gnomAD
TP53	P04637	p.Tyr205Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7674916_7674917insT	NCI-TCGA
TP53	P04637	p.Tyr205Ter	RCV000164938	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674916A>T	ClinVar
TP53	P04637	p.Tyr205Cys	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>C	UniProt,dbSNP
TP53	P04637	p.Tyr205Cys	VAR_005953	missense variant	-	NC_000017.11:g.7674917T>C	UniProt
TP53	P04637	p.Tyr205Cys	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>C	-
TP53	P04637	p.Tyr205Ter	rs786202222	stop gained	-	NC_000017.11:g.7674916A>T	gnomAD
TP53	P04637	p.Tyr205Asn	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>T	gnomAD
TP53	P04637	p.Tyr205Ser	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>G	UniProt,dbSNP
TP53	P04637	p.Tyr205Ser	VAR_045048	missense variant	-	NC_000017.11:g.7674917T>G	UniProt
TP53	P04637	p.Tyr205Ser	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>G	-
TP53	P04637	p.Tyr205His	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>G	UniProt,dbSNP
TP53	P04637	p.Tyr205His	VAR_045046	missense variant	-	NC_000017.11:g.7674918A>G	UniProt
TP53	P04637	p.Tyr205Phe	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>A	UniProt,dbSNP
TP53	P04637	p.Tyr205Phe	VAR_047175	missense variant	-	NC_000017.11:g.7674917T>A	UniProt
TP53	P04637	p.Tyr205Phe	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>A	-
TP53	P04637	p.Tyr205Asp	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>C	gnomAD
TP53	P04637	p.Tyr205Asn	RCV000435608	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000428105	missense variant	Neoplasm of the breast	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000424682	missense variant	Neoplasm of brain	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000419577	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205His	RCV000819983	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674918A>G	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000438368	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000435531	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000426347	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000441202	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205His	RCV000775886	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674918A>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000432365	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Leu206TrpPheSerTerUnkUnk	COSM1610844	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674914A>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu206Ser	RCV000507226	missense variant	-	NC_000017.11:g.7674914A>G	ClinVar
TP53	P04637	p.Leu206Met	VAR_045050	Missense	-	-	UniProt
TP53	P04637	p.Leu206Phe	VAR_045049	Missense	-	-	UniProt
TP53	P04637	p.Asp207PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674897_7674912AAGTGTTTCTGTCATC>-	NCI-TCGA
TP53	P04637	p.Asp207Gly	VAR_045052	Missense	-	-	UniProt
TP53	P04637	p.Asp207Tyr	VAR_045056	Missense	-	-	UniProt
TP53	P04637	p.Asp207_Asp208delinsGluTyr	VAR_047176	deletion_insertion	-	-	UniProt
TP53	P04637	p.Asp207His	VAR_045053	Missense	-	-	UniProt
TP53	P04637	p.Asp207Glu	VAR_045051	Missense	-	-	UniProt
TP53	P04637	p.Asp207Val	VAR_045055	Missense	-	-	UniProt
TP53	P04637	p.Asp208Gly	RCV000709405	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674908T>C	ClinVar
TP53	P04637	p.Asp208Asn	COSM43987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674909C>T	NCI-TCGA Cosmic
TP53	P04637	p.Asp208Val	rs1464727668	missense variant	-	NC_000017.11:g.7674908T>A	-
TP53	P04637	p.Asp208Val	rs1464727668	missense variant	-	NC_000017.11:g.7674908T>A	UniProt,dbSNP
TP53	P04637	p.Asp208Val	VAR_045061	missense variant	-	NC_000017.11:g.7674908T>A	UniProt
TP53	P04637	p.Asp208His	VAR_045059	Missense	-	-	UniProt
TP53	P04637	p.Asp208Tyr	VAR_045062	Missense	-	-	UniProt
TP53	P04637	p.Asp208Glu	VAR_045057	Missense	-	-	UniProt
TP53	P04637	p.Asp208Asn	VAR_045060	Missense	-	-	UniProt
TP53	P04637	p.Asp208Gly	VAR_045058	Missense	-	-	UniProt
TP53	P04637	p.Asp208Ile	VAR_045809	Missense	-	-	UniProt
TP53	P04637	p.Arg209Ter	RCV000492427	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674905_7674906del	ClinVar
TP53	P04637	p.Arg209Ter	RCV000414120	frameshift	-	NC_000017.11:g.7674905_7674906del	ClinVar
TP53	P04637	p.Arg209Ter	RCV000539085	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674905_7674906del	ClinVar
TP53	P04637	p.Arg209Gly	RCV000771676	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674906T>C	ClinVar
TP53	P04637	p.Arg209HisPheSerTerUnk	COSM69086	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674902_7674906TTTCT>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg209LysPheSerTerUnk	COSM13120	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674904_7674905TC>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg209Ile	COSM46120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674905C>A	NCI-TCGA Cosmic
TP53	P04637	p.Arg209Lys	COSM308314	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674905C>T	NCI-TCGA Cosmic
TP53	P04637	p.Arg209Ter	rs1429743956	stop gained	-	NC_000017.11:g.7674906T>A	-
TP53	P04637	p.Arg209Ter	RCV000785270	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674905_7674906del	ClinVar
TP53	P04637	p.Arg209Lys	VAR_045064	Missense	-	-	UniProt
TP53	P04637	p.Arg209Thr	VAR_045066	Missense	-	-	UniProt
TP53	P04637	p.Arg209Ile	VAR_045063	Missense	-	-	UniProt
TP53	P04637	p.Arg209Ser	VAR_045065	Missense	-	-	UniProt
TP53	P04637	p.Asn210Tyr	RCV000466733	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674903T>A	ClinVar
TP53	P04637	p.Asn210Ter	RCV000013156	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674903_7674904del	ClinVar
TP53	P04637	p.Asn210ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674902T>-	NCI-TCGA
TP53	P04637	p.Asn210PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674899_7674903GTGTT>-	NCI-TCGA
TP53	P04637	p.Asn210Tyr	rs1060501200	missense variant	-	NC_000017.11:g.7674903T>A	-
TP53	P04637	p.Asn210His	VAR_045068	Missense	-	-	UniProt
TP53	P04637	p.Asn210Ser	VAR_045071	Missense	-	-	UniProt
TP53	P04637	p.Asn210Lys	VAR_045070	Missense	-	-	UniProt
TP53	P04637	p.Asn210Thr	VAR_045072	Missense	-	-	UniProt
TP53	P04637	p.Asn210Ile	VAR_045069	Missense	-	-	UniProt
TP53	P04637	p.Asn210Asp	VAR_045067	Missense	-	-	UniProt
TP53	P04637	p.Thr211Ala	RCV000469438	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674900T>C	ClinVar
TP53	P04637	p.Thr211Pro	RCV000633327	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674900T>G	ClinVar
TP53	P04637	p.Thr211LeuPheSerTerUnkUnk	COSM1636913	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674900T>-	NCI-TCGA Cosmic
TP53	P04637	p.Thr211Ile	COSM1386676	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674899G>A	NCI-TCGA Cosmic
TP53	P04637	p.Thr211PhePheSerTerUnk	COSM45222	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674899_7674900GT>-	NCI-TCGA Cosmic
TP53	P04637	p.Thr211Pro	rs1060501198	missense variant	-	NC_000017.11:g.7674900T>G	-
TP53	P04637	p.Thr211Ala	rs1060501198	missense variant	-	NC_000017.11:g.7674900T>C	-
TP53	P04637	p.Thr211Pro	VAR_045077	Missense	-	-	UniProt
TP53	P04637	p.Thr211Asn	VAR_045076	Missense	-	-	UniProt
TP53	P04637	p.Thr211Ser	VAR_045078	Missense	-	-	UniProt
TP53	P04637	p.Thr211Ile	VAR_045075	Missense	-	-	UniProt
TP53	P04637	p.Phe212Ile	RCV000486339	missense variant	-	NC_000017.11:g.7674897A>T	ClinVar
TP53	P04637	p.Phe212Ile	RCV000687495	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674897A>T	ClinVar
TP53	P04637	p.Phe212SerPheSerTerUnk	COSM1735835	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674895_7674896AA>-	NCI-TCGA Cosmic
TP53	P04637	p.Phe212TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674893_7674896CGAA>-	NCI-TCGA
TP53	P04637	p.Phe212Ter	RCV000492303	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674897_7674898del	ClinVar
TP53	P04637	p.Phe212Ile	rs1064795766	missense variant	-	NC_000017.11:g.7674897A>T	-
TP53	P04637	p.Phe212Ile	rs1064795766	missense variant	-	NC_000017.11:g.7674897A>T	UniProt,dbSNP
TP53	P04637	p.Phe212Ile	VAR_045079	missense variant	-	NC_000017.11:g.7674897A>T	UniProt
TP53	P04637	p.Phe212Ile	RCV000492242	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674897A>T	ClinVar
TP53	P04637	p.Phe212Ter	RCV000785471	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674897_7674898del	ClinVar
TP53	P04637	p.Phe212Tyr	VAR_045083	Missense	-	-	UniProt
TP53	P04637	p.Phe212Ser	VAR_045081	Missense	-	-	UniProt
TP53	P04637	p.Phe212Val	VAR_045082	Missense	-	-	UniProt
TP53	P04637	p.Phe212Leu	VAR_045080	Missense	-	-	UniProt
TP53	P04637	p.Arg213Leu	rs587778720	missense variant	-	NC_000017.11:g.7674893C>A	UniProt,dbSNP
TP53	P04637	p.Arg213Leu	VAR_045085	missense variant	-	NC_000017.11:g.7674893C>A	UniProt
TP53	P04637	p.Arg213Pro	rs587778720	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674893C>G	UniProt,dbSNP
TP53	P04637	p.Arg213Pro	VAR_036506	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674893C>G	UniProt
TP53	P04637	p.Arg213Pro	rs587778720	missense variant	-	NC_000017.11:g.7674893C>G	ExAC,gnomAD
TP53	P04637	p.Arg213Gln	rs587778720	missense variant	-	NC_000017.11:g.7674893C>T	ExAC,gnomAD
TP53	P04637	p.Arg213Gly	RCV000444193	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000432206	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000417479	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000428146	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000438186	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000430949	missense variant	Neoplasm of brain	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Leu	RCV000428841	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000433789	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Ter	RCV000785330	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000421737	missense variant	Neoplasm of brain	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000422684	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000435387	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000439979	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000437481	missense variant	-	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000436862	missense variant	-	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000437472	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Ter	RCV000115730	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Gln	RCV000626448	missense variant	-	NC_000017.11:g.7674893C>T	ClinVar
TP53	P04637	p.Arg213Ter	RCV000213050	nonsense	-	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000420272	missense variant	Glioblastoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000444980	missense variant	Neoplasm of the breast	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Leu	RCV000428488	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Ter	RCV000144672	nonsense	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Ter	RCV000780783	nonsense	-	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000438469	missense variant	Adenoid cystic carcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000426799	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000419627	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Ter	RCV000036532	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000438834	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000431481	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000421648	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Leu	RCV000418814	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000445195	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000444469	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000439587	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000443648	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000427500	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000432738	missense variant	-	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000417467	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000435132	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000422458	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000421524	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Ter	RCV000202592	frameshift	Acute megakaryoblastic leukemia	NC_000017.11:g.7674898del	ClinVar
TP53	P04637	p.Arg213AspPheSerTerUnkUnk	rs864309495	frameshift	-	NC_000017.11:g.7674895A>-	NCI-TCGA,NCI-TCGA Cosmic
TP53	P04637	p.Arg213Leu	rs587778720	missense variant	-	NC_000017.11:g.7674893C>A	ExAC,gnomAD
TP53	P04637	p.Arg213Gly	rs397516436	missense variant	-	NC_000017.11:g.7674894G>C	ExAC
TP53	P04637	p.Arg213Gly	rs397516436	missense variant	-	NC_000017.11:g.7674894G>C	UniProt,dbSNP
TP53	P04637	p.Arg213Gly	VAR_045084	missense variant	-	NC_000017.11:g.7674894G>C	UniProt
TP53	P04637	p.Arg213Ter	rs397516436	stop gained	-	NC_000017.11:g.7674894G>A	ExAC
TP53	P04637	p.Arg213Gln	rs587778720	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674893C>T	UniProt,dbSNP
TP53	P04637	p.Arg213Gln	VAR_005955	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674893C>T	UniProt
TP53	P04637	p.Arg213Gly	RCV000428823	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Leu	RCV000418608	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000428624	missense variant	Neoplasm of the breast	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000427240	missense variant	Glioblastoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Pro	RCV000220461	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674893C>G	ClinVar
TP53	P04637	p.Arg213Gly	RCV000432863	missense variant	-	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000438677	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000424254	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000426157	missense variant	Adenoid cystic carcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000425630	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Trp	VAR_045086	Missense	-	-	UniProt
TP53	P04637	p.His214Gln	rs587781386	missense variant	-	NC_000017.11:g.7674889A>C	UniProt,dbSNP
TP53	P04637	p.His214Gln	VAR_047177	missense variant	-	NC_000017.11:g.7674889A>C	UniProt
TP53	P04637	p.His214Asn	rs876658466	missense variant	-	NC_000017.11:g.7674891G>T	-
TP53	P04637	p.His214Leu	RCV000427039	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000423188	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000444957	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Arg	RCV000477234	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674890T>C	ClinVar
TP53	P04637	p.His214Leu	RCV000440391	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000445284	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000431675	missense variant	Glioblastoma	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000421427	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000442701	missense variant	-	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214GlnPheSerTerUnk	COSM4422060	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674888_7674889TA>-	NCI-TCGA Cosmic
TP53	P04637	p.His214LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674890_7674891insGCCGAAAA	NCI-TCGA
TP53	P04637	p.His214GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674889A>-	NCI-TCGA
TP53	P04637	p.His214Leu	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>A	gnomAD
TP53	P04637	p.His214Pro	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>G	gnomAD
TP53	P04637	p.His214Arg	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>C	gnomAD
TP53	P04637	p.His214Arg	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>C	UniProt,dbSNP
TP53	P04637	p.His214Arg	VAR_045089	missense variant	-	NC_000017.11:g.7674890T>C	UniProt
TP53	P04637	p.His214Gln	rs587781386	missense variant	-	NC_000017.11:g.7674889A>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.His214Pro	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>G	UniProt,dbSNP
TP53	P04637	p.His214Pro	VAR_045088	missense variant	-	NC_000017.11:g.7674890T>G	UniProt
TP53	P04637	p.His214Gln	RCV000410083	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674889A>C	ClinVar
TP53	P04637	p.His214Leu	RCV000427702	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000433885	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000437948	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Asn	RCV000214223	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674891G>T	ClinVar
TP53	P04637	p.His214Asn	RCV000803678	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674891G>T	ClinVar
TP53	P04637	p.His214Asp	VAR_045087	Missense	-	-	UniProt
TP53	P04637	p.His214Tyr	VAR_045090	Missense	-	-	UniProt
TP53	P04637	p.Ser215Arg	RCV000422178	missense variant	Neoplasm of the breast	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000785463	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000425174	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000437603	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000432876	missense variant	Small cell lung cancer	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000421044	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Asn	RCV000422423	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000441630	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000432107	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Asn	RCV000423774	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000785347	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Ile	RCV000429840	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Gly	RCV000772138	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674888T>C	ClinVar
TP53	P04637	p.Ser215Arg	COSM1268353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674886A>T	NCI-TCGA Cosmic
TP53	P04637	p.Ser215Ile	RCV000433950	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000434496	missense variant	Neoplasm of the breast	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000423272	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000438643	missense variant	Small cell lung cancer	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000435696	missense variant	Neoplasm of the breast	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Ile	RCV000420217	missense variant	Small cell lung cancer	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000492171	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Asn	RCV000427974	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Asn	RCV000443221	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ter	RCV000785298	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674888dup	ClinVar
TP53	P04637	p.Ser215LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674887_7674888insT	NCI-TCGA
TP53	P04637	p.Ser215Ter	RCV000581621	frameshift	-	NC_000017.11:g.7674887_7674888dup	ClinVar
TP53	P04637	p.Ser215Arg	rs1057520001	missense variant	-	NC_000017.11:g.7674886A>C	UniProt,dbSNP
TP53	P04637	p.Ser215Arg	VAR_045095	missense variant	-	NC_000017.11:g.7674886A>C	UniProt
TP53	P04637	p.Ser215Asn	rs587782177	missense variant	-	NC_000017.11:g.7674887C>T	UniProt,dbSNP
TP53	P04637	p.Ser215Asn	VAR_045094	missense variant	-	NC_000017.11:g.7674887C>T	UniProt
TP53	P04637	p.Ser215Thr	rs587782177	missense variant	-	NC_000017.11:g.7674887C>G	UniProt,dbSNP
TP53	P04637	p.Ser215Thr	VAR_045096	missense variant	-	NC_000017.11:g.7674887C>G	UniProt
TP53	P04637	p.Ser215Ile	rs587782177	missense variant	-	NC_000017.11:g.7674887C>A	UniProt,dbSNP
TP53	P04637	p.Ser215Ile	VAR_045093	missense variant	-	NC_000017.11:g.7674887C>A	UniProt
TP53	P04637	p.Ser215Asn	RCV000421424	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000420881	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Ile	RCV000430889	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Ile	RCV000440493	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Thr	RCV000130796	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674887C>G	ClinVar
TP53	P04637	p.Ser215Asn	RCV000442434	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Arg	RCV000442610	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000439391	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000431745	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000442691	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000492567	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674888T>G	ClinVar
TP53	P04637	p.Ser215Gly	RCV000700891	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674888T>C	ClinVar
TP53	P04637	p.Ser215Cys	VAR_045091	Missense	-	-	UniProt
TP53	P04637	p.Ser215Lys	VAR_045810	Missense	-	-	UniProt
TP53	P04637	p.Val216Glu	rs1057520004	missense variant	-	NC_000017.11:g.7674884A>T	-
TP53	P04637	p.Val216Glu	rs1057520004	missense variant	-	NC_000017.11:g.7674884A>T	UniProt,dbSNP
TP53	P04637	p.Val216Glu	VAR_045098	missense variant	-	NC_000017.11:g.7674884A>T	UniProt
TP53	P04637	p.Val216Gly	RCV000439990	missense variant	Neoplasm of the breast	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Glu	RCV000429825	missense variant	Glioblastoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Gly	RCV000423344	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000442920	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000433620	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000442891	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Glu	RCV000436131	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000423283	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000439819	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000418474	missense variant	-	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Gly	RCV000424582	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Glu	RCV000434860	missense variant	Neoplasm of the breast	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Gly	RCV000440155	missense variant	Neoplasm of brain	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Glu	RCV000424832	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000419558	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000418104	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000429571	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Leu	RCV000427972	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000437749	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000785309	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000420083	missense variant	Neoplasm of brain	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Met	RCV000583984	missense variant	-	NC_000017.11:g.7674885C>T	ClinVar
TP53	P04637	p.Val216Leu	RCV000442710	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Met	RCV000663213	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674885C>T	ClinVar
TP53	P04637	p.Val216Leu	RCV000431215	missense variant	Neoplasm of the breast	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Gly	rs1057520004	missense variant	-	NC_000017.11:g.7674884A>C	UniProt,dbSNP
TP53	P04637	p.Val216Gly	VAR_045099	missense variant	-	NC_000017.11:g.7674884A>C	UniProt
TP53	P04637	p.Val216Gly	rs1057520004	missense variant	-	NC_000017.11:g.7674884A>C	-
TP53	P04637	p.Val216Leu	RCV000439081	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000426649	missense variant	Glioblastoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000422099	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000428855	missense variant	-	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000437980	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000466409	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674885C>G	ClinVar
TP53	P04637	p.Val216Leu	RCV000417716	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Glu	RCV000440944	missense variant	Neoplasm of brain	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Gly	RCV000434681	missense variant	-	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000433417	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000427043	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000422282	missense variant	Glioblastoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Trp	VAR_045811	Missense	-	-	UniProt
TP53	P04637	p.Val216Ala	VAR_045097	Missense	-	-	UniProt
TP53	P04637	p.Val217GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674881_7674882insCC	NCI-TCGA
TP53	P04637	p.Val217Met	rs35163653	missense variant	-	NC_000017.11:g.7674882C>T	ExAC,gnomAD
TP53	P04637	p.Val217Met	rs35163653	missense variant	-	NC_000017.11:g.7674882C>T	UniProt,dbSNP
TP53	P04637	p.Val217Met	VAR_047178	missense variant	-	NC_000017.11:g.7674882C>T	UniProt
TP53	P04637	p.Val217Met	RCV000161936	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674882C>T	ClinVar
TP53	P04637	p.Val217Glu	VAR_045102	Missense	-	-	UniProt
TP53	P04637	p.Val217Ile	VAR_045104	Missense	-	-	UniProt
TP53	P04637	p.Val217Leu	VAR_045105	Missense	-	-	UniProt
TP53	P04637	p.Val217Gly	VAR_045103	Missense	-	-	UniProt
TP53	P04637	p.Val217Ala	VAR_045101	Missense	-	-	UniProt
TP53	P04637	p.Val218CysPheSerTerUnkUnk	COSM1324795	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674879C>-	NCI-TCGA Cosmic
TP53	P04637	p.Val218Ter	RCV000785273	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674883_7674887dup	ClinVar
TP53	P04637	p.Val218Gly	RCV000633350	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674878A>C	ClinVar
TP53	P04637	p.Val218Gly	rs1555525743	missense variant	-	NC_000017.11:g.7674878A>C	-
TP53	P04637	p.Val218Gly	rs1555525743	missense variant	-	NC_000017.11:g.7674878A>C	UniProt,dbSNP
TP53	P04637	p.Val218Gly	VAR_045108	missense variant	-	NC_000017.11:g.7674878A>C	UniProt
TP53	P04637	p.Val218Met	rs878854072	missense variant	-	NC_000017.11:g.7674879C>T	-
TP53	P04637	p.Val218Met	rs878854072	missense variant	-	NC_000017.11:g.7674879C>T	UniProt,dbSNP
TP53	P04637	p.Val218Met	VAR_045110	missense variant	-	NC_000017.11:g.7674879C>T	UniProt
TP53	P04637	p.Val218Met	RCV000228072	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674879C>T	ClinVar
TP53	P04637	p.Val218Ter	RCV000165061	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674865_7674880del	ClinVar
TP53	P04637	p.Val218Ala	VAR_045106	Missense	-	-	UniProt
TP53	P04637	p.Val218Leu	VAR_045109	Missense	-	-	UniProt
TP53	P04637	p.Val218Glu	VAR_045107	Missense	-	-	UniProt
TP53	P04637	p.Pro219Ser	rs879253894	missense variant	-	NC_000017.11:g.7674876G>A	UniProt,dbSNP
TP53	P04637	p.Pro219Ser	VAR_045114	missense variant	-	NC_000017.11:g.7674876G>A	UniProt
TP53	P04637	p.Pro219LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674874_7674875GG>-	NCI-TCGA
TP53	P04637	p.Pro219AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674876_7674877insC	NCI-TCGA
TP53	P04637	p.Pro219Ter	RCV000569731	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674863_7674878del	ClinVar
TP53	P04637	p.Pro219Ser	RCV000236313	missense variant	-	NC_000017.11:g.7674876G>A	ClinVar
TP53	P04637	p.Pro219Ser	rs879253894	missense variant	-	NC_000017.11:g.7674876G>A	gnomAD
TP53	P04637	p.Pro219Leu	rs1420675064	missense variant	-	NC_000017.11:g.7674875G>A	gnomAD
TP53	P04637	p.Pro219Leu	rs1420675064	missense variant	-	NC_000017.11:g.7674875G>A	UniProt,dbSNP
TP53	P04637	p.Pro219Leu	VAR_045112	missense variant	-	NC_000017.11:g.7674875G>A	UniProt
TP53	P04637	p.Pro219His	VAR_045111	Missense	-	-	UniProt
TP53	P04637	p.Pro219Cys	VAR_045812	Missense	-	-	UniProt
TP53	P04637	p.Pro219Arg	VAR_045113	Missense	-	-	UniProt
TP53	P04637	p.Pro219Thr	VAR_045115	Missense	-	-	UniProt
TP53	P04637	p.Tyr220Asn	rs530941076	missense variant	-	NC_000017.11:g.7674873A>T	UniProt,dbSNP
TP53	P04637	p.Tyr220Asn	VAR_045118	missense variant	-	NC_000017.11:g.7674873A>T	UniProt
TP53	P04637	p.Tyr220Asp	rs530941076	missense variant	-	NC_000017.11:g.7674873A>C	UniProt,dbSNP
TP53	P04637	p.Tyr220Asp	VAR_045116	missense variant	-	NC_000017.11:g.7674873A>C	UniProt
TP53	P04637	p.Tyr220Asp	rs530941076	missense variant	-	NC_000017.11:g.7674873A>C	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Tyr220Cys	rs121912666	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674872T>C	UniProt,dbSNP
TP53	P04637	p.Tyr220Cys	VAR_005957	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674872T>C	UniProt
TP53	P04637	p.Tyr220Cys	RCV000418951	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000425193	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000423111	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000428791	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000435063	missense variant	Neoplasm of brain	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000436553	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000440244	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000438068	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000419021	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000570507	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000443812	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000432093	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000419702	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000418575	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000444073	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000418779	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000434918	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000785544	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000444814	missense variant	Small cell lung cancer	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000428097	missense variant	-	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000444717	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000434300	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Ser	RCV000013183	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674872T>G	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000434614	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000439456	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000423624	missense variant	Neoplasm of the breast	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000417417	missense variant	Glioblastoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000425869	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Ser	RCV000472593	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674872T>G	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000442230	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000423029	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000433936	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000439645	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220MetPheSerTerUnkUnk	COSM5625799	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674874G>-	NCI-TCGA Cosmic
TP53	P04637	p.Tyr220Asp	RCV000427506	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000430837	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000428144	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000438838	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000444915	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000424584	missense variant	Glioblastoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000439357	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220His	RCV000566866	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674873A>G	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000433449	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000426793	missense variant	Small cell lung cancer	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000440413	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000425315	missense variant	Glioblastoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000427847	missense variant	Neoplasm of brain	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000434427	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000438679	missense variant	-	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000419523	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000429130	missense variant	Neoplasm of the breast	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000423767	missense variant	Small cell lung cancer	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000431034	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000437034	missense variant	Neoplasm of brain	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000424311	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000436457	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674862_7674872AGGCGGCTCAT>-	NCI-TCGA
TP53	P04637	p.Tyr220Asn	rs530941076	missense variant	-	NC_000017.11:g.7674873A>T	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Tyr220His	rs530941076	missense variant	-	NC_000017.11:g.7674873A>G	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Tyr220Cys	rs121912666	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674872T>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Tyr220Ser	rs121912666	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674872T>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Tyr220Ser	rs121912666	missense variant	-	NC_000017.11:g.7674872T>G	UniProt,dbSNP
TP53	P04637	p.Tyr220Ser	VAR_005959	missense variant	-	NC_000017.11:g.7674872T>G	UniProt
TP53	P04637	p.Tyr220His	rs530941076	missense variant	-	NC_000017.11:g.7674873A>G	UniProt,dbSNP
TP53	P04637	p.Tyr220His	VAR_005958	missense variant	-	NC_000017.11:g.7674873A>G	UniProt
TP53	P04637	p.Tyr220Asn	RCV000434035	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000437403	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000441127	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000417982	missense variant	Neoplasm of the breast	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000422783	missense variant	-	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000426310	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000429300	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000421037	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Ter	RCV000785516	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674871A>T	ClinVar
TP53	P04637	p.Tyr220Phe	VAR_045117	Missense	-	-	UniProt
TP53	P04637	p.Glu221Lys	rs786201592	missense variant	-	NC_000017.11:g.7674870C>T	UniProt,dbSNP
TP53	P04637	p.Glu221Lys	VAR_045122	missense variant	-	NC_000017.11:g.7674870C>T	UniProt
TP53	P04637	p.Glu221Lys	rs786201592	missense variant	-	NC_000017.11:g.7674870C>T	gnomAD
TP53	P04637	p.Glu221Ter	RCV000492096	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674869del	ClinVar
TP53	P04637	p.Glu221Ter	RCV000234225	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674869del	ClinVar
TP53	P04637	p.Glu221AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674865_7674869CGGCT>-	NCI-TCGA
TP53	P04637	p.Glu221Ter	rs786201592	stop gained	-	NC_000017.11:g.7674870C>A	gnomAD
TP53	P04637	p.Glu221Ala	RCV000695405	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674869T>G	ClinVar
TP53	P04637	p.Glu221Ter	RCV000785468	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674870C>A	ClinVar
TP53	P04637	p.Glu221Lys	RCV000528158	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674870C>T	ClinVar
TP53	P04637	p.Glu221Lys	RCV000163935	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674870C>T	ClinVar
TP53	P04637	p.Glu221Ter	RCV000794857	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674870C>A	ClinVar
TP53	P04637	p.Glu221Ala	VAR_045119	Missense	-	-	UniProt
TP53	P04637	p.Glu221Gly	VAR_045121	Missense	-	-	UniProt
TP53	P04637	p.Glu221Gln	VAR_045123	Missense	-	-	UniProt
TP53	P04637	p.Glu221Asp	VAR_045120	Missense	-	-	UniProt
TP53	P04637	p.Pro222Ser	RCV000564109	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674867G>A	ClinVar
TP53	P04637	p.Pro222Leu	RCV000213056	missense variant	-	NC_000017.11:g.7674866G>A	ClinVar
TP53	P04637	p.Pro222Leu	RCV000411498	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674866G>A	ClinVar
TP53	P04637	p.Pro222Leu	RCV000148907	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674866G>A	ClinVar
TP53	P04637	p.Pro222Leu	RCV000161032	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674866G>A	ClinVar
TP53	P04637	p.Pro222Leu	rs146340390	missense variant	-	NC_000017.11:g.7674866G>A	UniProt,dbSNP
TP53	P04637	p.Pro222Leu	VAR_045125	missense variant	-	NC_000017.11:g.7674866G>A	UniProt
TP53	P04637	p.Pro222Leu	rs146340390	missense variant	-	NC_000017.11:g.7674866G>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro222Ser	rs1060501203	missense variant	-	NC_000017.11:g.7674867G>A	TOPMed
TP53	P04637	p.Pro222Ter	RCV000785327	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674867del	ClinVar
TP53	P04637	p.Pro222Arg	VAR_045127	Missense	-	-	UniProt
TP53	P04637	p.Pro222Ala	VAR_045124	Missense	-	-	UniProt
TP53	P04637	p.Pro222Thr	VAR_045129	Missense	-	-	UniProt
TP53	P04637	p.Pro222Gln	VAR_045126	Missense	-	-	UniProt
TP53	P04637	p.Pro223Leu	RCV000223388	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674863G>A	ClinVar
TP53	P04637	p.Pro223Leu	RCV000633401	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674863G>A	ClinVar
TP53	P04637	p.Pro223ArgPheSerTerUnk	COSM1318439	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674863_7674864insGCGGCTC	NCI-TCGA Cosmic
TP53	P04637	p.Pro223Ter	COSM111639	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674864_7674865GC>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro223AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674865_7674866insGGCT	NCI-TCGA
TP53	P04637	p.Pro223His	rs138983188	missense variant	-	NC_000017.11:g.7674863G>T	ESP
TP53	P04637	p.Pro223His	rs138983188	missense variant	-	NC_000017.11:g.7674863G>T	UniProt,dbSNP
TP53	P04637	p.Pro223His	VAR_045130	missense variant	-	NC_000017.11:g.7674863G>T	UniProt
TP53	P04637	p.Pro223Leu	rs138983188	missense variant	-	NC_000017.11:g.7674863G>A	UniProt,dbSNP
TP53	P04637	p.Pro223Leu	VAR_045131	missense variant	-	NC_000017.11:g.7674863G>A	UniProt
TP53	P04637	p.Pro223Leu	rs138983188	missense variant	-	NC_000017.11:g.7674863G>A	ESP
TP53	P04637	p.Pro223Thr	VAR_045134	Missense	-	-	UniProt
TP53	P04637	p.Pro223Arg	VAR_045132	Missense	-	-	UniProt
TP53	P04637	p.Pro223Ser	VAR_045133	Missense	-	-	UniProt
TP53	P04637	p.Pro223Ala	VAR_047179	Missense	-	-	UniProt
TP53	P04637	p.Glu224Asp	rs267605076	missense variant	-	NC_000017.11:g.7674859C>A	gnomAD
TP53	P04637	p.Glu224Ala	RCV000492340	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674860T>G	ClinVar
TP53	P04637	p.Glu224Ter	COSM2744697	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674861C>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu224GlyPheSerTerUnk	COSM69018	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674861_7674862CA>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu224Asp	COSM1646847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674859C>G	NCI-TCGA Cosmic
TP53	P04637	p.Glu224Lys	RCV000573879	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674861C>T	ClinVar
TP53	P04637	p.Glu224Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674862_7674863insT	NCI-TCGA
TP53	P04637	p.Glu224Ala	rs1131691028	missense variant	-	NC_000017.11:g.7674860T>G	-
TP53	P04637	p.Glu224Lys	rs1555525707	missense variant	-	NC_000017.11:g.7674861C>T	-
TP53	P04637	p.Glu224Lys	rs1555525707	missense variant	-	NC_000017.11:g.7674861C>T	UniProt,dbSNP
TP53	P04637	p.Glu224Lys	VAR_045137	missense variant	-	NC_000017.11:g.7674861C>T	UniProt
TP53	P04637	p.Glu224Gly	VAR_045136	Missense	-	-	UniProt
TP53	P04637	p.Glu224Val	VAR_045138	Missense	-	-	UniProt
TP53	P04637	p.Val225Ile	rs746504075	missense variant	-	NC_000017.11:g.7674290C>T	ExAC,gnomAD
TP53	P04637	p.Val225Ile	RCV000571914	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674290C>T	ClinVar
TP53	P04637	p.Val225ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674858_7674859insCT	NCI-TCGA
TP53	P04637	p.Val225Leu	rs746504075	missense variant	-	NC_000017.11:g.7674290C>G	UniProt,dbSNP
TP53	P04637	p.Val225Leu	VAR_045144	missense variant	-	NC_000017.11:g.7674290C>G	UniProt
TP53	P04637	p.Val225Leu	rs746504075	missense variant	-	NC_000017.11:g.7674290C>G	ExAC,gnomAD
TP53	P04637	p.Val225Asp	VAR_045140	Missense	-	-	UniProt
TP53	P04637	p.Val225Ile	VAR_045143	Missense	-	-	UniProt
TP53	P04637	p.Val225Ala	VAR_045139	Missense	-	-	UniProt
TP53	P04637	p.Val225Phe	VAR_045141	Missense	-	-	UniProt
TP53	P04637	p.Val225Gly	VAR_045142	Missense	-	-	UniProt
TP53	P04637	p.Gly226Val	RCV000542075	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674286C>A	ClinVar
TP53	P04637	p.Gly226AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674288A>-	NCI-TCGA
TP53	P04637	p.Gly226Val	rs970212462	missense variant	-	NC_000017.11:g.7674286C>A	TOPMed
TP53	P04637	p.Gly226Val	RCV000572327	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674286C>A	ClinVar
TP53	P04637	p.Gly226Ter	RCV000785269	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674289del	ClinVar
TP53	P04637	p.Gly226Ser	VAR_045146	Missense	-	-	UniProt
TP53	P04637	p.Gly226Asp	VAR_047180	Missense	-	-	UniProt
TP53	P04637	p.Gly226Asn	VAR_045844	Missense	-	-	UniProt
TP53	P04637	p.Gly226Ala	VAR_045145	Missense	-	-	UniProt
TP53	P04637	p.Ser227Tyr	COSM4387403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674283G>T	NCI-TCGA Cosmic
TP53	P04637	p.Ser227Ter	RCV000785280	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674283del	ClinVar
TP53	P04637	p.Ser227Thr	VAR_045151	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Ser227Phe	VAR_045149	Missense	-	-	UniProt
TP53	P04637	p.Ser227Pro	VAR_045150	Missense	-	-	UniProt
TP53	P04637	p.Ser227Cys	VAR_045148	Missense	-	-	UniProt
TP53	P04637	p.Asp228Ter	COSM69213	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674281_7674282insA	NCI-TCGA Cosmic
TP53	P04637	p.Asp228Glu	COSM43853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674279G>C	NCI-TCGA Cosmic
TP53	P04637	p.Asp228Asn	COSM44398	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674281C>T	NCI-TCGA Cosmic
TP53	P04637	p.Asp228ValPheSerTerUnkUnk	COSM5025058	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674277_7674280CAGT>-	NCI-TCGA Cosmic
TP53	P04637	p.Asp228Ter	RCV000785306	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674282dup	ClinVar
TP53	P04637	p.Asp228Glu	VAR_005960	Missense	-	-	UniProt
TP53	P04637	p.Asp228Gly	VAR_045153	Missense	-	-	UniProt
TP53	P04637	p.Asp228Pro	VAR_045845	Missense	-	-	UniProt
TP53	P04637	p.Asp228Tyr	VAR_045157	Missense	-	-	UniProt
TP53	P04637	p.Asp228His	VAR_045154	Missense	-	-	UniProt
TP53	P04637	p.Asp228Asn	VAR_045155	Missense	-	-	UniProt
TP53	P04637	p.Asp228Val	VAR_045156	Missense	-	-	UniProt
TP53	P04637	p.Asp228Ala	VAR_045152	Missense	-	-	UniProt
TP53	P04637	p.Cys229Tyr	RCV000775944	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674277C>T	ClinVar
TP53	P04637	p.Cys229Arg	RCV000633388	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674278A>G	ClinVar
TP53	P04637	p.Cys229Ter	COSM45394	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674276A>T	NCI-TCGA Cosmic
TP53	P04637	p.Cys229LeuPheSerTerUnkUnk	COSM5045719	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674277C>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys229TyrPheSerTerUnkUnk	COSM111635	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674276_7674277AC>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys229Tyr	rs1064793603	missense variant	-	NC_000017.11:g.7674277C>T	-
TP53	P04637	p.Cys229Arg	rs1064794312	missense variant	-	NC_000017.11:g.7674278A>G	gnomAD
TP53	P04637	p.Cys229Arg	rs1064794312	missense variant	-	NC_000017.11:g.7674278A>G	UniProt,dbSNP
TP53	P04637	p.Cys229Arg	VAR_045159	missense variant	-	NC_000017.11:g.7674278A>G	UniProt
TP53	P04637	p.Cys229Ter	RCV000161057	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674273_7674280del	ClinVar
TP53	P04637	p.Cys229Arg	RCV000482930	missense variant	-	NC_000017.11:g.7674278A>G	ClinVar
TP53	P04637	p.Cys229Tyr	RCV000482575	missense variant	-	NC_000017.11:g.7674277C>T	ClinVar
TP53	P04637	p.Cys229Arg	RCV000492777	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674278A>G	ClinVar
TP53	P04637	p.Cys229Gly	VAR_045158	Missense	-	-	UniProt
TP53	P04637	p.Cys229Ser	VAR_045160	Missense	-	-	UniProt
TP53	P04637	p.Cys229Asn	VAR_045846	Missense	-	-	UniProt
TP53	P04637	p.Thr230HisPheSerTerUnk	COSM44223	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674275_7674276TA>-	NCI-TCGA Cosmic
TP53	P04637	p.Thr230Pro	COSM1637323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674275T>G	NCI-TCGA Cosmic
TP53	P04637	p.Thr230Asn	VAR_045163	Missense	-	-	UniProt
TP53	P04637	p.Thr230Ala	VAR_045162	Missense	-	-	UniProt
TP53	P04637	p.Thr230Pro	VAR_045164	Missense	-	-	UniProt
TP53	P04637	p.Thr230Ile	VAR_005961	Missense	-	-	UniProt
TP53	P04637	p.Thr230Ser	VAR_045165	Missense	-	-	UniProt
TP53	P04637	p.Thr231Ile	rs1555525564	missense variant	-	NC_000017.11:g.7674271G>A	UniProt,dbSNP
TP53	P04637	p.Thr231Ile	VAR_045167	missense variant	-	NC_000017.11:g.7674271G>A	UniProt
TP53	P04637	p.Thr231Ile	rs1555525564	missense variant	-	NC_000017.11:g.7674271G>A	-
TP53	P04637	p.Thr231Ile	RCV000552433	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674271G>A	ClinVar
TP53	P04637	p.Thr231Ser	VAR_045169	Missense	-	-	UniProt
TP53	P04637	p.Thr231Ala	VAR_045166	Missense	-	-	UniProt
TP53	P04637	p.Thr231Asn	VAR_045168	Missense	-	-	UniProt
TP53	P04637	p.Ile232Asn	COSM10715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674268A>T	NCI-TCGA Cosmic
TP53	P04637	p.Ile232Phe	COSM43550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674269T>A	NCI-TCGA Cosmic
TP53	P04637	p.Ile232Thr	RCV000129637	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674268A>G	ClinVar
TP53	P04637	p.Ile232Ser	RCV000785478	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674268A>C	ClinVar
TP53	P04637	p.Ile232Leu	RCV000567074	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674269T>G	ClinVar
TP53	P04637	p.Ile232Leu	rs1555525562	missense variant	-	NC_000017.11:g.7674269T>G	-
TP53	P04637	p.Ile232Leu	rs1555525562	missense variant	-	NC_000017.11:g.7674269T>G	UniProt,dbSNP
TP53	P04637	p.Ile232Leu	VAR_045171	missense variant	-	NC_000017.11:g.7674269T>G	UniProt
TP53	P04637	p.Ile232Thr	rs587781589	missense variant	-	NC_000017.11:g.7674268A>G	UniProt,dbSNP
TP53	P04637	p.Ile232Thr	VAR_005962	missense variant	-	NC_000017.11:g.7674268A>G	UniProt
TP53	P04637	p.Ile232Leu	RCV000759379	missense variant	-	NC_000017.11:g.7674269T>G	ClinVar
TP53	P04637	p.Ile232Val	VAR_045174	Missense	-	-	UniProt
TP53	P04637	p.Ile232Asn	VAR_045172	Missense	-	-	UniProt
TP53	P04637	p.Ile232Ser	VAR_045173	Missense	-	-	UniProt
TP53	P04637	p.Ile232Phe	VAR_045170	Missense	-	-	UniProt
TP53	P04637	p.His233Arg	rs879254233	missense variant	-	NC_000017.11:g.7674265T>C	UniProt,dbSNP
TP53	P04637	p.His233Arg	VAR_047181	missense variant	-	NC_000017.11:g.7674265T>C	UniProt
TP53	P04637	p.His233Arg	rs879254233	missense variant	-	NC_000017.11:g.7674265T>C	-
TP53	P04637	p.His233Arg	RCV000235730	missense variant	-	NC_000017.11:g.7674265T>C	ClinVar
TP53	P04637	p.His233Ter	RCV000696660	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674249_7674261del	ClinVar
TP53	P04637	p.His233Arg	RCV000569303	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674265T>C	ClinVar
TP53	P04637	p.His233Leu	VAR_045176	Missense	-	-	UniProt
TP53	P04637	p.His233Pro	VAR_045177	Missense	-	-	UniProt
TP53	P04637	p.His233Gln	VAR_045178	Missense	-	-	UniProt
TP53	P04637	p.His233Asp	VAR_045175	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.His233Tyr	VAR_045179	Missense	-	-	UniProt
TP53	P04637	p.Tyr234Ser	rs587780073	missense variant	-	NC_000017.11:g.7674262T>G	ExAC,gnomAD
TP53	P04637	p.Tyr234Cys	rs587780073	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674262T>C	UniProt,dbSNP
TP53	P04637	p.Tyr234Cys	VAR_005963	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674262T>C	UniProt
TP53	P04637	p.Tyr234Ser	RCV000427293	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000443862	missense variant	Small cell lung cancer	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000421263	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000436336	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000424345	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000439167	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000440475	missense variant	Neoplasm of the breast	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234ThrPheSerTerUnkUnk	COSM1626221	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674258_7674264GTTGTAG>-	NCI-TCGA Cosmic
TP53	P04637	p.Tyr234ProPheSerTerUnk	COSM1564201	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674264_7674265insTGGA	NCI-TCGA Cosmic
TP53	P04637	p.Tyr234Ter	COSM1324800	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674261G>C	NCI-TCGA Cosmic
TP53	P04637	p.Tyr234Ser	RCV000430039	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Cys	RCV000115732	missense variant	-	NC_000017.11:g.7674262T>C	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000431511	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000440245	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000444596	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000444569	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000423467	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000439556	missense variant	-	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7674261_7674262insT	NCI-TCGA
TP53	P04637	p.Tyr234Asp	RCV000445176	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000426109	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000418073	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000444101	missense variant	Small cell lung cancer	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000423653	missense variant	-	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000441597	missense variant	-	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000444893	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000417830	missense variant	Neoplasm of the breast	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Ser	rs587780073	missense variant	-	NC_000017.11:g.7674262T>G	UniProt,dbSNP
TP53	P04637	p.Tyr234Ser	VAR_045183	missense variant	-	NC_000017.11:g.7674262T>G	UniProt
TP53	P04637	p.Tyr234Cys	rs587780073	missense variant	-	NC_000017.11:g.7674262T>C	ExAC,gnomAD
TP53	P04637	p.Tyr234Ser	RCV000430207	missense variant	Glioblastoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000437540	missense variant	Neoplasm of the breast	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000433051	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000421924	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000426723	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234His	RCV000492782	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674263A>G	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000433276	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000426512	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000424462	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000423238	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000445265	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000433328	missense variant	Glioblastoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000432845	missense variant	Small cell lung cancer	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000492197	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000418444	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000428072	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000430896	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000434769	missense variant	Glioblastoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000436114	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000435222	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000425587	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000433956	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Gln	VAR_045848	Missense	-	-	UniProt
TP53	P04637	p.Tyr234Phe	VAR_045181	Missense	-	-	UniProt
TP53	P04637	p.Tyr234Lys	VAR_045847	Missense	-	-	UniProt
TP53	P04637	p.Asn235Ser	RCV000115733	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674259T>C	ClinVar
TP53	P04637	p.Asn235Tyr	rs786204145	missense variant	-	NC_000017.11:g.7674260T>A	UniProt,dbSNP
TP53	P04637	p.Asn235Tyr	VAR_045188	missense variant	-	NC_000017.11:g.7674260T>A	UniProt
TP53	P04637	p.Asn235Tyr	rs786204145	missense variant	-	NC_000017.11:g.7674260T>A	-
TP53	P04637	p.Asn235Ser	rs144340710	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674259T>C	UniProt,dbSNP
TP53	P04637	p.Asn235Ser	VAR_045186	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674259T>C	UniProt
TP53	P04637	p.Asn235Ile	rs144340710	missense variant	-	NC_000017.11:g.7674259T>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Asn235Ser	rs144340710	missense variant	-	NC_000017.11:g.7674259T>C	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Asn235Ile	rs144340710	missense variant	-	NC_000017.11:g.7674259T>A	UniProt,dbSNP
TP53	P04637	p.Asn235Ile	VAR_045185	missense variant	-	NC_000017.11:g.7674259T>A	UniProt
TP53	P04637	p.Asn235Tyr	RCV000168131	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674260T>A	ClinVar
TP53	P04637	p.Asn235His	VAR_045184	Missense	-	-	UniProt
TP53	P04637	p.Asn235Thr	VAR_045187	Missense	-	-	UniProt
TP53	P04637	p.Asn235Met	VAR_045849	Missense	-	-	UniProt
TP53	P04637	p.Asn235Asp	VAR_047182	Missense	-	-	UniProt
TP53	P04637	p.Tyr236Asp	rs587782289	missense variant	-	NC_000017.11:g.7674257A>C	UniProt,dbSNP
TP53	P04637	p.Tyr236Asp	VAR_045190	missense variant	-	NC_000017.11:g.7674257A>C	UniProt
TP53	P04637	p.Tyr236His	rs587782289	missense variant	-	NC_000017.11:g.7674257A>G	UniProt,dbSNP
TP53	P04637	p.Tyr236His	VAR_045192	missense variant	-	NC_000017.11:g.7674257A>G	UniProt
TP53	P04637	p.Tyr236Asn	RCV000439518	missense variant	Neoplasm of the breast	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000443891	missense variant	Neoplasm of brain	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000431852	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000429935	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000438183	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000420300	missense variant	Neoplasm of brain	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000444464	missense variant	Neoplasm of the breast	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000428749	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000437595	missense variant	-	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000419208	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Ter	COSM1522505	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674255G>T	NCI-TCGA Cosmic
TP53	P04637	p.Tyr236Ter	COSM44960	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674255G>C	NCI-TCGA Cosmic
TP53	P04637	p.Tyr236His	RCV000198628	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674257A>G	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000438979	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000418648	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000421570	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000438025	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000421176	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000427088	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000429365	missense variant	Neoplasm of brain	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000426248	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000430428	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000785279	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000423298	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000430980	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000425130	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Asn	rs587782289	missense variant	-	NC_000017.11:g.7674257A>T	-
TP53	P04637	p.Tyr236Asn	rs587782289	missense variant	-	NC_000017.11:g.7674257A>T	UniProt,dbSNP
TP53	P04637	p.Tyr236Asn	VAR_045193	missense variant	-	NC_000017.11:g.7674257A>T	UniProt
TP53	P04637	p.Tyr236Cys	RCV000440629	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Ser	RCV000161069	missense variant	-	NC_000017.11:g.7674256T>G	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000421075	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000440030	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000444665	missense variant	-	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000432981	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000428270	missense variant	-	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000419715	missense variant	Neoplasm of the breast	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000436923	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000422301	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000444573	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000435853	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Phe	VAR_045191	Missense	-	-	UniProt
TP53	P04637	p.Met237Ile	rs587782664	missense variant	-	NC_000017.11:g.7674252C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Met237Lys	rs765848205	missense variant	-	NC_000017.11:g.7674253A>T	ExAC,gnomAD
TP53	P04637	p.Met237Arg	RCV000482236	missense variant	-	NC_000017.11:g.7674253A>C	ClinVar
TP53	P04637	p.Met237Lys	RCV000443369	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000442966	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Val	RCV000200500	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674254T>C	ClinVar
TP53	P04637	p.Met237Leu	COSM220792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674254T>A	NCI-TCGA Cosmic
TP53	P04637	p.Met237CysPheSerTerUnkUnk	COSM45162	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674254T>-	NCI-TCGA Cosmic
TP53	P04637	p.Met237Ile	RCV000464261	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674252C>T	ClinVar
TP53	P04637	p.Met237Ile	RCV000581940	missense variant	-	NC_000017.11:g.7674252C>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000424589	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000437739	missense variant	-	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000422293	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Val	RCV000161033	missense variant	-	NC_000017.11:g.7674254T>C	ClinVar
TP53	P04637	p.Met237Lys	RCV000435309	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Thr	RCV000699909	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674253A>G	ClinVar
TP53	P04637	p.Met237Thr	RCV000568529	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674253A>G	ClinVar
TP53	P04637	p.Met237GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674236_7674255TGCAGGAACTGTTACACATG>-	NCI-TCGA
TP53	P04637	p.Met237Lys	RCV000432913	missense variant	Neoplasm of brain	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000427086	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000436968	missense variant	Neoplasm of the breast	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000429783	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Ile	rs587782664	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674252C>T	UniProt,dbSNP
TP53	P04637	p.Met237Ile	VAR_005965	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674252C>T	UniProt
TP53	P04637	p.Met237Arg	rs765848205	missense variant	-	NC_000017.11:g.7674253A>C	ExAC,gnomAD
TP53	P04637	p.Met237Thr	rs765848205	missense variant	-	NC_000017.11:g.7674253A>G	ExAC,gnomAD
TP53	P04637	p.Met237Ile	rs587782664	missense variant	-	NC_000017.11:g.7674252C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Met237Lys	rs765848205	missense variant	-	NC_000017.11:g.7674253A>T	UniProt,dbSNP
TP53	P04637	p.Met237Lys	VAR_045195	missense variant	-	NC_000017.11:g.7674253A>T	UniProt
TP53	P04637	p.Met237Ile	rs587782664	missense variant	-	NC_000017.11:g.7674252C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Met237Arg	rs765848205	missense variant	-	NC_000017.11:g.7674253A>C	UniProt,dbSNP
TP53	P04637	p.Met237Arg	VAR_045197	missense variant	-	NC_000017.11:g.7674253A>C	UniProt
TP53	P04637	p.Met237Lys	RCV000420529	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000442354	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Ile	RCV000785508	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674252C>A	ClinVar
TP53	P04637	p.Met237Ter	RCV000572072	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674249del	ClinVar
TP53	P04637	p.Met237Ter	RCV000574740	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674250_7674251CA[1]	ClinVar
TP53	P04637	p.Met237Leu	VAR_045196	Missense	-	-	UniProt
TP53	P04637	p.Met237Thr	VAR_045198	Missense	-	-	UniProt
TP53	P04637	p.Cys238Arg	RCV000431946	missense variant	Neoplasm of brain	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000428804	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000420677	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000423396	missense variant	-	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000438447	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000437476	missense variant	Neoplasm of the breast	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000424052	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000433046	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000433478	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000437321	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000428630	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000422283	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000417486	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000785550	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000427246	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000421679	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000441834	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000422044	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000426193	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000442237	missense variant	-	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000435170	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000444792	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000441879	missense variant	Neoplasm of the breast	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000439946	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Ser	RCV000434344	missense variant	Neoplasm of the breast	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000418923	missense variant	Neoplasm of brain	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000429749	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000442527	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000424531	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ter	COSM4425176	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674249_7674250AC>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys238Ser	RCV000425867	missense variant	-	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000439773	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000435732	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000424302	missense variant	Glioblastoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674250C>-	NCI-TCGA
TP53	P04637	p.Cys238Tyr	RCV000161034	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674250C>T	ClinVar
TP53	P04637	p.Cys238Ser	RCV000434584	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000432222	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000423226	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000425465	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	rs730882005	missense variant	-	NC_000017.11:g.7674250C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys238Arg	rs1057519981	missense variant	-	NC_000017.11:g.7674251A>G	UniProt,dbSNP
TP53	P04637	p.Cys238Arg	VAR_045201	missense variant	-	NC_000017.11:g.7674251A>G	UniProt
TP53	P04637	p.Cys238Phe	rs730882005	missense variant	-	NC_000017.11:g.7674250C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys238Gly	rs1057519981	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674251A>C	UniProt,dbSNP
TP53	P04637	p.Cys238Gly	VAR_045200	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674251A>C	UniProt
TP53	P04637	p.Cys238Tyr	rs730882005	missense variant	-	NC_000017.11:g.7674250C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys238Ser	RCV000442617	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Phe	RCV000473420	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674250C>A	ClinVar
TP53	P04637	p.Cys238Ser	RCV000419485	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000441115	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000440842	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000437199	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000438876	missense variant	Glioblastoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000420409	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000443356	missense variant	Neoplasm of brain	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Ser	RCV000565464	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674251A>T	ClinVar
TP53	P04637	p.Cys238Arg	RCV000430482	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000430655	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000428210	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000437018	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000430919	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000421933	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000419348	missense variant	Glioblastoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Trp	rs193920789	missense variant	-	NC_000017.11:g.7674249A>C	UniProt,dbSNP
TP53	P04637	p.Cys238Trp	VAR_045203	missense variant	-	NC_000017.11:g.7674249A>C	UniProt
TP53	P04637	p.Cys238Trp	RCV000203823	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674249A>C	ClinVar
TP53	P04637	p.Cys238His	VAR_045850	Missense	-	-	UniProt
TP53	P04637	p.Asn239Ser	rs1057519999	missense variant	-	NC_000017.11:g.7674247T>C	UniProt,dbSNP
TP53	P04637	p.Asn239Ser	VAR_045208	missense variant	-	NC_000017.11:g.7674247T>C	UniProt
TP53	P04637	p.Asn239Ser	RCV000420011	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000442626	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000429581	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Lys	RCV000431317	missense variant	-	NC_000017.11:g.7674246G>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000436108	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000426368	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000427640	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000418854	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000438332	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ter	RCV000460136	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674248del	ClinVar
TP53	P04637	p.Asn239Ser	RCV000438482	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Lys	RCV000529909	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674246G>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000437044	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000428926	missense variant	Neoplasm of the breast	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Asp	RCV000560536	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674248T>C	ClinVar
TP53	P04637	p.Asn239Ter	COSM112003	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674248_7674249insA	NCI-TCGA Cosmic
TP53	P04637	p.Asn239Asp	rs876660807	missense variant	-	NC_000017.11:g.7674248T>C	UniProt,dbSNP
TP53	P04637	p.Asn239Asp	VAR_045204	missense variant	-	NC_000017.11:g.7674248T>C	UniProt
TP53	P04637	p.Asn239Asp	rs876660807	missense variant	-	NC_000017.11:g.7674248T>C	-
TP53	P04637	p.Asn239GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674247_7674248TT>-	NCI-TCGA
TP53	P04637	p.Asn239Thr	rs1057519999	missense variant	-	NC_000017.11:g.7674247T>G	UniProt,dbSNP
TP53	P04637	p.Asn239Thr	VAR_045209	missense variant	-	NC_000017.11:g.7674247T>G	UniProt
TP53	P04637	p.Asn239Ter	RCV000785512	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674249dup	ClinVar
TP53	P04637	p.Asn239Ter	RCV000545435	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674240_7674249del	ClinVar
TP53	P04637	p.Asn239Ser	RCV000567507	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Thr	RCV000633336	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674247T>G	ClinVar
TP53	P04637	p.Asn239His	VAR_045205	Missense	-	-	UniProt
TP53	P04637	p.Asn239Ile	VAR_045206	Missense	-	-	UniProt
TP53	P04637	p.Asn239Tyr	VAR_045210	Missense	-	-	UniProt
TP53	P04637	p.Ser240Arg	rs764342812	missense variant	-	NC_000017.11:g.7674243A>C	ExAC,gnomAD
TP53	P04637	p.Ser240Gly	RCV000709404	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674245T>C	ClinVar
TP53	P04637	p.Ser240Arg	RCV000544531	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674243A>C	ClinVar
TP53	P04637	p.Ser240GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674236_7674246TGCAGGAACTG>-	NCI-TCGA
TP53	P04637	p.Ser240LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674244_7674245insT	NCI-TCGA
TP53	P04637	p.Ser240Ter	RCV000493285	frameshift	-	NC_000017.11:g.7674246_7674247insA	ClinVar
TP53	P04637	p.Ser240Ile	VAR_005968	Missense	-	-	UniProt
TP53	P04637	p.Ser240Pro	VAR_045214	Missense	-	-	UniProt
TP53	P04637	p.Ser240Thr	VAR_045216	Missense	-	-	UniProt
TP53	P04637	p.Ser240Arg	VAR_045215	Missense	-	-	UniProt
TP53	P04637	p.Ser240Gly	VAR_045212	Missense	-	-	UniProt
TP53	P04637	p.Ser240Cys	VAR_045211	Missense	-	-	UniProt
TP53	P04637	p.Ser240Asn	VAR_045213	Missense	-	-	UniProt
TP53	P04637	p.Ser241Cys	rs28934573	missense variant	-	NC_000017.11:g.7674241G>C	ExAC,gnomAD
TP53	P04637	p.Ser241Tyr	rs28934573	missense variant	-	NC_000017.11:g.7674241G>T	ExAC,gnomAD
TP53	P04637	p.Ser241Phe	rs28934573	missense variant	-	NC_000017.11:g.7674241G>A	ExAC,gnomAD
TP53	P04637	p.Ser241Tyr	RCV000441261	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000425344	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000439590	missense variant	Neoplasm of the breast	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000431755	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000431373	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000236210	missense variant	-	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000421131	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000442642	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000785454	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000439098	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000443312	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000429092	missense variant	-	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000427437	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000440449	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000437125	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000433139	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000417799	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000441961	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000443160	missense variant	-	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000439326	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000418366	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000430183	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000423390	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000441931	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000437871	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000441702	missense variant	-	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000418899	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000435947	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000429686	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000434790	missense variant	Glioblastoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000442139	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000423557	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000434877	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000433946	missense variant	Glioblastoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000785263	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000436563	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241ProPheSerTerUnk	COSM43645	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674242A>-	NCI-TCGA Cosmic
TP53	P04637	p.Ser241Cys	RCV000426195	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000492778	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000428236	missense variant	-	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000436296	missense variant	Neoplasm of the breast	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000154419	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000426095	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000425780	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000430014	missense variant	Neoplasm of brain	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Phe	RCV000013154	missense variant	Osteosarcoma	NC_000017.11:g.7674241G>A	ClinVar
TP53	P04637	p.Ser241Cys	RCV000437089	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000420364	missense variant	Neoplasm of brain	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Ala	rs1057520002	missense variant	-	NC_000017.11:g.7674242A>C	UniProt,dbSNP
TP53	P04637	p.Ser241Ala	VAR_033036	missense variant	-	NC_000017.11:g.7674242A>C	UniProt
TP53	P04637	p.Ser241Ala	rs1057520002	missense variant	-	NC_000017.11:g.7674242A>C	gnomAD
TP53	P04637	p.Ser241Phe	rs28934573	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674241G>A	UniProt,dbSNP
TP53	P04637	p.Ser241Phe	VAR_005969	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674241G>A	UniProt
TP53	P04637	p.Ser241Tyr	rs28934573	missense variant	-	NC_000017.11:g.7674241G>T	UniProt,dbSNP
TP53	P04637	p.Ser241Tyr	VAR_045219	missense variant	-	NC_000017.11:g.7674241G>T	UniProt
TP53	P04637	p.Ser241Cys	rs28934573	missense variant	-	NC_000017.11:g.7674241G>C	UniProt,dbSNP
TP53	P04637	p.Ser241Cys	VAR_045217	missense variant	-	NC_000017.11:g.7674241G>C	UniProt
TP53	P04637	p.Ser241Cys	RCV000417965	missense variant	Glioblastoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000437363	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000422573	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000429339	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000438178	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000419713	missense variant	Glioblastoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000432092	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Phe	RCV000013153	missense variant	Hepatoblastoma	NC_000017.11:g.7674241G>A	ClinVar
TP53	P04637	p.Ser241Ala	RCV000419457	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000420564	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000425213	missense variant	Neoplasm of brain	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000428035	missense variant	-	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000421946	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000435497	missense variant	Neoplasm of the breast	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000432077	missense variant	Neoplasm of the breast	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000425684	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000422882	missense variant	-	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000426866	missense variant	-	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000422775	missense variant	Neoplasm of brain	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000442103	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000424609	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	rs1057520002	missense variant	-	NC_000017.11:g.7674242A>G	UniProt,dbSNP
TP53	P04637	p.Ser241Pro	VAR_045218	missense variant	-	NC_000017.11:g.7674242A>G	UniProt
TP53	P04637	p.Ser241Pro	rs1057520002	missense variant	-	NC_000017.11:g.7674242A>G	gnomAD
TP53	P04637	p.Ser241Cys	RCV000785321	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000424972	missense variant	-	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000438864	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000430604	missense variant	-	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000430987	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000438488	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000419417	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000418625	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000441902	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000423572	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000442616	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000420813	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000426900	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000440216	missense variant	-	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000441922	missense variant	-	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000432564	missense variant	-	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Thr	VAR_047183	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Cys242Trp	rs375874539	missense variant	-	NC_000017.11:g.7674237G>C	ESP,ExAC,TOPMed
TP53	P04637	p.Cys242Gly	rs1057519982	missense variant	-	NC_000017.11:g.7674239A>C	UniProt,dbSNP
TP53	P04637	p.Cys242Gly	VAR_045220	missense variant	-	NC_000017.11:g.7674239A>C	UniProt
TP53	P04637	p.Cys242Ser	rs121912655	missense variant	-	NC_000017.11:g.7674238C>G	UniProt,dbSNP
TP53	P04637	p.Cys242Ser	VAR_045222	missense variant	-	NC_000017.11:g.7674238C>G	UniProt
TP53	P04637	p.Cys242Phe	rs121912655	missense variant	-	NC_000017.11:g.7674238C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys242Phe	rs121912655	missense variant	-	NC_000017.11:g.7674238C>A	UniProt,dbSNP
TP53	P04637	p.Cys242Phe	VAR_005970	missense variant	-	NC_000017.11:g.7674238C>A	UniProt
TP53	P04637	p.Cys242Tyr	RCV000424935	missense variant	-	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Gly	RCV000461418	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674239A>C	ClinVar
TP53	P04637	p.Cys242Ser	RCV000662594	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674239A>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000419041	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Arg	RCV000523905	missense variant	-	NC_000017.11:g.7674239A>G	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000440992	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Phe	RCV000688366	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674238C>A	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000785282	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000425602	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000430302	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000436867	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000442015	missense variant	Glioblastoma	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000426292	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000419614	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000436295	missense variant	Neoplasm of the breast	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000432119	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242AlaPheSerTerUnk	COSM2744618	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674240G>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys242Ter	COSM44378	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674237G>T	NCI-TCGA Cosmic
TP53	P04637	p.Cys242Trp	RCV000438862	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000421654	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000432344	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000441640	missense variant	-	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000431682	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Ser	rs121912655	missense variant	-	NC_000017.11:g.7674238C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys242Tyr	rs121912655	missense variant	-	NC_000017.11:g.7674238C>T	UniProt,dbSNP
TP53	P04637	p.Cys242Tyr	VAR_045224	missense variant	-	NC_000017.11:g.7674238C>T	UniProt
TP53	P04637	p.Cys242Tyr	rs121912655	missense variant	-	NC_000017.11:g.7674238C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys242Trp	RCV000432990	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000422298	missense variant	Glioblastoma	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000420256	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000442778	missense variant	Neoplasm of the breast	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000430938	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000420917	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Arg	VAR_045221	Missense	-	-	UniProt
TP53	P04637	p.Met243Thr	rs730882006	missense variant	-	NC_000017.11:g.7674235A>G	-
TP53	P04637	p.Met243Val	RCV000464185	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674236T>C	ClinVar
TP53	P04637	p.Met243Val	RCV000562254	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674236T>C	ClinVar
TP53	P04637	p.Met243Leu	RCV000166281	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674236T>G	ClinVar
TP53	P04637	p.Met243Thr	RCV000222280	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674235A>G	ClinVar
TP53	P04637	p.Met243Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674227_7674236TGCCGCCCAT>-	NCI-TCGA
TP53	P04637	p.Met243Leu	rs786203117	missense variant	-	NC_000017.11:g.7674236T>G	TOPMed
TP53	P04637	p.Met243Val	rs786203117	missense variant	-	NC_000017.11:g.7674236T>C	UniProt,dbSNP
TP53	P04637	p.Met243Val	VAR_045230	missense variant	-	NC_000017.11:g.7674236T>C	UniProt
TP53	P04637	p.Met243Val	rs786203117	missense variant	-	NC_000017.11:g.7674236T>C	TOPMed
TP53	P04637	p.Met243Leu	rs786203117	missense variant	-	NC_000017.11:g.7674236T>A	UniProt,dbSNP
TP53	P04637	p.Met243Leu	VAR_045227	missense variant	-	NC_000017.11:g.7674236T>A	UniProt
TP53	P04637	p.Met243Leu	rs786203117	missense variant	-	NC_000017.11:g.7674236T>A	TOPMed
TP53	P04637	p.Met243Ile	VAR_045225	Missense	-	-	UniProt
TP53	P04637	p.Met243Lys	VAR_045226	Missense	-	-	UniProt
TP53	P04637	p.Met243_Gly244delinsIleCys	VAR_047184	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met243_Gly244delinsIleSer	VAR_047185	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met243Arg	VAR_045228	Missense	-	-	UniProt
TP53	P04637	p.Gly244Ala	rs985033810	missense variant	-	NC_000017.11:g.7674232C>G	-
TP53	P04637	p.Gly244Val	RCV000428522	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000443964	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Arg	RCV000424520	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000418001	missense variant	Glioblastoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000423073	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Arg	RCV000432729	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000434977	missense variant	Small cell lung cancer	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000417831	missense variant	Neoplasm of brain	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Arg	RCV000435229	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000443153	missense variant	Small cell lung cancer	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000419267	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000785338	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000424338	missense variant	Glioblastoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Arg	RCV000431028	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000433805	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Arg	RCV000420351	missense variant	Neoplasm of brain	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Ala	RCV000548437	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674232C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000433321	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Arg	RCV000438254	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000439173	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000440310	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000420188	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000430897	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Ser	RCV000633372	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674233C>T	ClinVar
TP53	P04637	p.Gly244Arg	RCV000430145	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000437599	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Cys	RCV000538079	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674233C>A	ClinVar
TP53	P04637	p.Gly244AlaPheSerTerUnk	COSM4603840	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674232C>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly244Val	COSM111715	inframe deletion	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674227_7674232TGCCGC>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly244Asp	rs985033810	missense variant	-	NC_000017.11:g.7674232C>T	-
TP53	P04637	p.Gly244Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674227_7674233TGCCGCC>-	NCI-TCGA
TP53	P04637	p.Gly244Cys	rs1057519989	missense variant	-	NC_000017.11:g.7674233C>A	UniProt,dbSNP
TP53	P04637	p.Gly244Cys	VAR_045231	missense variant	-	NC_000017.11:g.7674233C>A	UniProt
TP53	P04637	p.Gly244Arg	rs1057519989	missense variant	-	NC_000017.11:g.7674233C>G	UniProt,dbSNP
TP53	P04637	p.Gly244Arg	VAR_045234	missense variant	-	NC_000017.11:g.7674233C>G	UniProt
TP53	P04637	p.Gly244Ser	rs1057519989	missense variant	-	NC_000017.11:g.7674233C>T	UniProt,dbSNP
TP53	P04637	p.Gly244Ser	VAR_045235	missense variant	-	NC_000017.11:g.7674233C>T	UniProt
TP53	P04637	p.Gly244Arg	RCV000425485	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000425133	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Asp	RCV000477083	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674232C>T	ClinVar
TP53	P04637	p.Gly244Val	RCV000441607	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Glu	VAR_045233	Missense	-	-	UniProt
TP53	P04637	p.Gly245Ser	rs28934575	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674230C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Cys	rs28934575	missense variant	-	NC_000017.11:g.7674230C>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Asp	rs121912656	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>T	UniProt,dbSNP
TP53	P04637	p.Gly245Asp	VAR_005973	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>T	UniProt
TP53	P04637	p.Gly245Asp	rs121912656	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674229C>T	ExAC,gnomAD
TP53	P04637	p.Gly245Arg	rs28934575	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674230C>G	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Cys	RCV000443435	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000436979	missense variant	Neoplasm of the breast	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000419737	missense variant	Neoplasm of the breast	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000425581	missense variant	Neoplasm	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000420452	missense variant	Glioblastoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000423577	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000432898	missense variant	-	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ala	RCV000428537	missense variant	-	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000418643	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000432804	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000436773	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000438982	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000431752	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000420237	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000426521	missense variant	Glioblastoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000435854	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000434145	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000438479	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000422531	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000430431	missense variant	-	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000443789	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000443716	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000439974	missense variant	Neoplasm of the breast	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Asp	RCV000013149	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674229C>T	ClinVar
TP53	P04637	p.Gly245Asp	RCV000164465	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674229C>T	ClinVar
TP53	P04637	p.Gly245Ala	RCV000421477	missense variant	Neoplasm of brain	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Asp	RCV000206683	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>T	ClinVar
TP53	P04637	p.Gly245Ala	RCV000437884	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000444483	missense variant	-	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000434833	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000428216	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000558455	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000427619	missense variant	-	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000429303	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000425368	missense variant	Neoplasm of the breast	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000255018	missense variant	-	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000443845	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000421739	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000426568	missense variant	Glioblastoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000437258	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000421020	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000442824	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000424123	missense variant	Neoplasm of brain	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000433958	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Cys	RCV000441334	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000428113	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000438801	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000434535	missense variant	-	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Arg	RCV000633351	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>G	ClinVar
TP53	P04637	p.Gly245Ser	RCV000417419	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000426990	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000430002	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	rs28934575	missense variant	-	NC_000017.11:g.7674230C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Ala	rs121912656	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674229C>G	ExAC,gnomAD
TP53	P04637	p.Gly245Cys	rs28934575	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674230C>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Cys	rs28934575	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>A	UniProt,dbSNP
TP53	P04637	p.Gly245Cys	VAR_005972	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>A	UniProt
TP53	P04637	p.Gly245Ala	rs121912656	missense variant	-	NC_000017.11:g.7674229C>G	UniProt,dbSNP
TP53	P04637	p.Gly245Ala	VAR_005971	missense variant	-	NC_000017.11:g.7674229C>G	UniProt
TP53	P04637	p.Gly245Arg	rs28934575	missense variant	-	NC_000017.11:g.7674230C>G	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Arg	rs28934575	missense variant	-	NC_000017.11:g.7674230C>G	UniProt,dbSNP
TP53	P04637	p.Gly245Arg	VAR_045238	missense variant	-	NC_000017.11:g.7674230C>G	UniProt
TP53	P04637	p.Gly245Val	rs121912656	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674229C>A	ExAC,gnomAD
TP53	P04637	p.Gly245Ser	rs28934575	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>T	UniProt,dbSNP
TP53	P04637	p.Gly245Ser	VAR_005974	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>T	UniProt
TP53	P04637	p.Gly245Ser	RCV000419767	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000426307	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000440886	missense variant	Neoplasm of brain	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000148909	missense variant	Adenocarcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000425471	missense variant	Glioblastoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Cys	RCV000418673	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Cys	RCV000417593	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000785316	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Val	rs121912656	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>A	UniProt,dbSNP
TP53	P04637	p.Gly245Val	VAR_005975	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>A	UniProt
TP53	P04637	p.Gly245Ser	RCV000421457	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000426090	missense variant	-	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000442506	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000440197	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000442529	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000424262	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Cys	RCV000428895	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000430925	missense variant	Neoplasm of brain	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000437643	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000436330	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Cys	RCV000436186	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000432120	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000438107	missense variant	-	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Phe	VAR_045851	Missense	-	-	UniProt
TP53	P04637	p.Gly245Leu	VAR_045853	Missense	-	-	UniProt
TP53	P04637	p.Gly245Asn	VAR_045854	Missense	-	-	UniProt
TP53	P04637	p.Gly245His	VAR_045852	Missense	-	-	UniProt
TP53	P04637	p.Gly245Glu	VAR_045237	Missense	-	-	UniProt
TP53	P04637	p.Met246Ile	rs1019340046	missense variant	-	NC_000017.11:g.7674225C>T	TOPMed
TP53	P04637	p.Met246Ile	RCV000561491	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674225C>T	ClinVar
TP53	P04637	p.Met246Ile	COSM10757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674225C>G	NCI-TCGA Cosmic
TP53	P04637	p.Met246Ile	COSM46136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674225C>A	NCI-TCGA Cosmic
TP53	P04637	p.Met246Thr	RCV000492075	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674226A>G	ClinVar
TP53	P04637	p.Met246Lys	RCV000797952	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674226A>T	ClinVar
TP53	P04637	p.Met246Leu	RCV000166380	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674227T>G	ClinVar
TP53	P04637	p.Met246Thr	rs587780074	missense variant	-	NC_000017.11:g.7674226A>G	UniProt,dbSNP
TP53	P04637	p.Met246Thr	VAR_005977	missense variant	-	NC_000017.11:g.7674226A>G	UniProt
TP53	P04637	p.Met246Leu	rs483352695	missense variant	-	NC_000017.11:g.7674227T>G	UniProt,dbSNP
TP53	P04637	p.Met246Leu	VAR_044020	missense variant	-	NC_000017.11:g.7674227T>G	UniProt
TP53	P04637	p.Met246Val	rs483352695	missense variant	-	NC_000017.11:g.7674227T>C	-
TP53	P04637	p.Met246Val	rs483352695	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674227T>C	UniProt,dbSNP
TP53	P04637	p.Met246Val	VAR_005978	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674227T>C	UniProt
TP53	P04637	p.Met246Arg	rs587780074	missense variant	-	NC_000017.11:g.7674226A>C	UniProt,dbSNP
TP53	P04637	p.Met246Arg	VAR_005976	missense variant	-	NC_000017.11:g.7674226A>C	UniProt
TP53	P04637	p.Met246Leu	RCV000470073	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674227T>A	ClinVar
TP53	P04637	p.Met246Val	RCV000161036	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674227T>C	ClinVar
TP53	P04637	p.Met246Lys	RCV000574219	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674226A>T	ClinVar
TP53	P04637	p.Met246Thr	RCV000785245	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674226A>G	ClinVar
TP53	P04637	p.Met246Arg	RCV000115734	missense variant	-	NC_000017.11:g.7674226A>C	ClinVar
TP53	P04637	p.Met246Lys	VAR_045240	Missense	-	-	UniProt
TP53	P04637	p.Asn247Ser	rs786201762	missense variant	-	NC_000017.11:g.7674223T>C	UniProt,dbSNP
TP53	P04637	p.Asn247Ser	VAR_045243	missense variant	-	NC_000017.11:g.7674223T>C	UniProt
TP53	P04637	p.Asn247Ser	RCV000457243	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674223T>C	ClinVar
TP53	P04637	p.Asn247Ile	RCV000785503	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674223T>A	ClinVar
TP53	P04637	p.Asn247Ile	rs786201762	missense variant	-	NC_000017.11:g.7674223T>A	UniProt,dbSNP
TP53	P04637	p.Asn247Ile	VAR_005980	missense variant	-	NC_000017.11:g.7674223T>A	UniProt
TP53	P04637	p.AsnArg247AsnTrp	rs1555525498	missense variant	-	NC_000017.11:g.7674221_7674222delinsAA	-
TP53	P04637	p.Asn247Phe	VAR_045855	Missense	-	-	UniProt
TP53	P04637	p.Asn247_Arg248delinsIlePro	VAR_047187	deletion_insertion	-	-	UniProt
TP53	P04637	p.Asn247_Arg248delinsLysTrp	VAR_047188	deletion_insertion	-	-	UniProt
TP53	P04637	p.Asn247Lys	VAR_045242	Missense	-	-	UniProt
TP53	P04637	p.Asn247Thr	VAR_047189	Missense	-	-	UniProt
TP53	P04637	p.Asn247Tyr	VAR_045244	Missense	-	-	UniProt
TP53	P04637	p.Arg248Gly	rs121912651	missense variant	-	NC_000017.11:g.7674221G>C	UniProt,dbSNP
TP53	P04637	p.Arg248Gly	VAR_005981	missense variant	-	NC_000017.11:g.7674221G>C	UniProt
TP53	P04637	p.Arg248Leu	rs11540652	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674220C>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg248Gln	rs11540652	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674220C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg248Trp	RCV000424308	missense variant	-	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000418495	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000418894	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000420292	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Gly	RCV000425782	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Leu	RCV000422821	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000437940	missense variant	Neoplasm of the breast	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000423159	missense variant	-	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000443712	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000434177	missense variant	Small cell lung cancer	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000430964	missense variant	-	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000423468	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000432999	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000438849	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000445077	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000444130	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000420936	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Gln	RCV000115736	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674220C>T	ClinVar
TP53	P04637	p.Arg248Pro	RCV000435488	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000428586	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000424394	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000443630	missense variant	Glioblastoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000441018	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000439516	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000424119	missense variant	Myelodysplastic syndrome (MDS)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000432304	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000441674	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000444805	missense variant	Small cell lung cancer	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Trp	RCV000419857	missense variant	Small cell lung cancer	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000419032	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000633396	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Pro	RCV000425773	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000229442	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000419610	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000426089	missense variant	Neoplasm of brain	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000433865	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000440422	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000438698	missense variant	Neoplasm	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000444356	missense variant	Glioblastoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Leu	RCV000418531	missense variant	-	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000435803	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000425394	missense variant	-	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Leu	RCV000445145	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000429221	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000443867	missense variant	-	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000434831	missense variant	Neoplasm of the breast	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000424795	missense variant	Myelodysplastic syndrome (MDS)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000430044	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000219834	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000440686	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000431663	missense variant	Glioblastoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Trp	RCV000444845	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000433611	missense variant	Small cell lung cancer	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Leu	RCV000445266	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000441010	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000436398	missense variant	-	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000431689	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000427948	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000430543	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000431508	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000434504	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000422668	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000442243	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000440560	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000440334	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000425100	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000424776	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000419150	missense variant	Glioblastoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000436038	missense variant	Neoplasm of brain	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000425083	missense variant	Myelodysplastic syndrome (MDS)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000423804	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000433905	missense variant	Neoplasm of brain	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000435050	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000432931	missense variant	Myelodysplastic syndrome (MDS)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000444427	missense variant	-	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000437882	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000441557	missense variant	-	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000444519	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000441091	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000430735	missense variant	-	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000432207	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000424415	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000420498	missense variant	Neoplasm of the breast	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000425682	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000429777	missense variant	Neoplasm of the breast	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000423184	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000626118	missense variant	Carcinoma of colon (CRC)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000435353	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000441711	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000785485	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000423297	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000429884	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000417693	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000418362	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000427544	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	rs121912651	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674221G>A	ExAC,gnomAD
TP53	P04637	p.Arg248HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674213_7674220GGGCCTCC>-	NCI-TCGA
TP53	P04637	p.Arg248Pro	rs11540652	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674220C>G	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg248Trp	rs121912651	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674221G>A	UniProt,dbSNP
TP53	P04637	p.Arg248Trp	VAR_005984	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674221G>A	UniProt
TP53	P04637	p.Arg248Gly	rs121912651	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674221G>C	ExAC,gnomAD
TP53	P04637	p.Arg248Leu	RCV000417894	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000436124	missense variant	-	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000422303	missense variant	Neoplasm of brain	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000433237	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000421633	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000439901	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000430314	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000435726	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000435101	missense variant	-	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000425414	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000427307	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000436850	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Trp	RCV000499534	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674221_7674222delinsAA	ClinVar
TP53	P04637	p.Arg248Cys	VAR_045245	Missense	-	-	UniProt
TP53	P04637	p.Arg249Trp	rs587782082	missense variant	-	NC_000017.11:g.7674218T>A	UniProt,dbSNP
TP53	P04637	p.Arg249Trp	VAR_045250	missense variant	-	NC_000017.11:g.7674218T>A	UniProt
TP53	P04637	p.Arg249Thr	rs587782329	missense variant	-	NC_000017.11:g.7674217C>G	UniProt,dbSNP
TP53	P04637	p.Arg249Thr	VAR_045249	missense variant	-	NC_000017.11:g.7674217C>G	UniProt
TP53	P04637	p.Arg249Thr	rs587782329	missense variant	-	NC_000017.11:g.7674217C>G	-
TP53	P04637	p.Arg249Lys	rs587782329	missense variant	-	NC_000017.11:g.7674217C>T	UniProt,dbSNP
TP53	P04637	p.Arg249Lys	VAR_045248	missense variant	-	NC_000017.11:g.7674217C>T	UniProt
TP53	P04637	p.Arg249Trp	RCV000130578	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674218T>A	ClinVar
TP53	P04637	p.Arg249GlyPheSerTerUnkUnk	COSM6019373	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674219C>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg249Met	RCV000782360	missense variant	Neoplasm of ovary	NC_000017.11:g.7674217C>A	ClinVar
TP53	P04637	p.Arg249Gly	RCV000467567	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674218T>C	ClinVar
TP53	P04637	p.Arg249Thr	RCV000426063	missense variant	Neoplasm of the breast	NC_000017.11:g.7674217C>G	ClinVar
TP53	P04637	p.Arg249Ser	RCV000785491	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674216C>A	ClinVar
TP53	P04637	p.Arg249Met	rs587782329	missense variant	-	NC_000017.11:g.7674217C>A	UniProt,dbSNP
TP53	P04637	p.Arg249Met	VAR_033037	missense variant	-	NC_000017.11:g.7674217C>A	UniProt
TP53	P04637	p.Arg249Gly	rs587782082	missense variant	-	NC_000017.11:g.7674218T>C	UniProt,dbSNP
TP53	P04637	p.Arg249Gly	VAR_005985	missense variant	-	NC_000017.11:g.7674218T>C	UniProt
TP53	P04637	p.Arg249Ser	rs28934571	missense variant	-	NC_000017.11:g.7674216C>A	UniProt,dbSNP
TP53	P04637	p.Arg249Ser	VAR_005986	missense variant	-	NC_000017.11:g.7674216C>A	UniProt
TP53	P04637	p.Arg249Ser	RCV000465003	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674216C>G	ClinVar
TP53	P04637	p.Arg249Lys	RCV000131246	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674217C>T	ClinVar
TP53	P04637	p.Arg249Lys	RCV000724753	missense variant	-	NC_000017.11:g.7674217C>T	ClinVar
TP53	P04637	p.Arg249_Pro250delinsSerSer	VAR_047191	deletion_insertion	-	-	UniProt
TP53	P04637	p.Arg249Ile	VAR_045247	Missense	-	-	UniProt
TP53	P04637	p.Arg249Asn	VAR_045856	Missense	-	-	UniProt
TP53	P04637	p.Arg249_Pro250delinsSerAla	VAR_047190	deletion_insertion	-	-	UniProt
TP53	P04637	p.Pro250Ser	COSM43695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674215G>A	NCI-TCGA Cosmic
TP53	P04637	p.Pro250HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674213_7674214GG>-	NCI-TCGA
TP53	P04637	p.Pro250Leu	NCI-TCGA novel	inframe deletion	-	NC_000017.11:g.7674212_7674214TGG>-	NCI-TCGA
TP53	P04637	p.Pro250Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7674214G>C	NCI-TCGA
TP53	P04637	p.Pro250Leu	rs1064794311	missense variant	-	NC_000017.11:g.7674214G>A	UniProt,dbSNP
TP53	P04637	p.Pro250Leu	VAR_047192	missense variant	-	NC_000017.11:g.7674214G>A	UniProt
TP53	P04637	p.Pro250Leu	RCV000479937	missense variant	-	NC_000017.11:g.7674214G>A	ClinVar
TP53	P04637	p.Pro250His	VAR_045252	Missense	-	-	UniProt
TP53	P04637	p.Pro250Ser	VAR_045254	Missense	-	-	UniProt
TP53	P04637	p.Pro250Gln	VAR_045253	Missense	-	-	UniProt
TP53	P04637	p.Pro250Phe	VAR_045857	Missense	-	-	UniProt
TP53	P04637	p.Pro250Thr	VAR_045255	Missense	-	-	UniProt
TP53	P04637	p.Pro250Ala	VAR_045251	Missense	-	-	UniProt
TP53	P04637	p.Pro250Asn	VAR_045858	Missense	-	-	UniProt
TP53	P04637	p.Ile251Ser	rs730882027	missense variant	-	NC_000017.11:g.7674211A>C	ExAC,gnomAD
TP53	P04637	p.Ile251Ser	RCV000161070	missense variant	-	NC_000017.11:g.7674211A>C	ClinVar
TP53	P04637	p.Ile251Leu	RCV000785277	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674212T>G	ClinVar
TP53	P04637	p.Ile251Met	RCV000564022	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674210G>C	ClinVar
TP53	P04637	p.Ile251Phe	COSM43967	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674212T>A	NCI-TCGA Cosmic
TP53	P04637	p.Ile251SerPheSerTerUnkUnk	COSM437492	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674213G>-	NCI-TCGA Cosmic
TP53	P04637	p.Ile251Asn	RCV000633360	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674211A>T	ClinVar
TP53	P04637	p.Ile251Leu	RCV000492548	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674212T>G	ClinVar
TP53	P04637	p.Ile251Met	rs878854074	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674210G>C	UniProt,dbSNP
TP53	P04637	p.Ile251Met	VAR_045258	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674210G>C	UniProt
TP53	P04637	p.Ile251Asn	rs730882027	missense variant	-	NC_000017.11:g.7674211A>T	ExAC,gnomAD
TP53	P04637	p.Ile251Thr	rs730882027	missense variant	-	NC_000017.11:g.7674211A>G	ExAC,gnomAD
TP53	P04637	p.Ile251Ter	RCV000785350	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674215del	ClinVar
TP53	P04637	p.Ile251Thr	RCV000506798	missense variant	-	NC_000017.11:g.7674211A>G	ClinVar
TP53	P04637	p.Ile251Met	RCV000633326	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674210G>C	ClinVar
TP53	P04637	p.Ile251Asn	VAR_005987	Missense	-	-	UniProt
TP53	P04637	p.Ile251Val	VAR_045260	Missense	-	-	UniProt
TP53	P04637	p.Ile251Phe	VAR_045256	Missense	-	-	UniProt
TP53	P04637	p.Ile251Thr	VAR_045259	Missense	-	-	UniProt
TP53	P04637	p.Leu252Pro	RCV000013143	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674208A>G	ClinVar
TP53	P04637	p.Leu252SerPheSerTerUnkUnk	COSM44541	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674209G>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu252Pro	NCI-TCGA novel	inframe deletion	-	NC_000017.11:g.7674206_7674208TGA>-	NCI-TCGA
TP53	P04637	p.Leu252Pro	rs121912653	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674208A>G	-
TP53	P04637	p.Leu252Pro	rs121912653	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674208A>G	UniProt,dbSNP
TP53	P04637	p.Leu252Pro	VAR_005988	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674208A>G	UniProt
TP53	P04637	p.Leu252Ter	RCV000575325	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674210del	ClinVar
TP53	P04637	p.Leu252His	VAR_045262	Missense	-	-	UniProt
TP53	P04637	p.Leu252Val	VAR_045264	Missense	-	-	UniProt
TP53	P04637	p.Leu252Ile	VAR_045263	Missense	-	-	UniProt
TP53	P04637	p.Leu252Phe	VAR_045261	Missense	-	-	UniProt
TP53	P04637	p.Thr253Asn	rs1555525465	missense variant	-	NC_000017.11:g.7674205G>T	-
TP53	P04637	p.Thr253Asn	rs1555525465	missense variant	-	NC_000017.11:g.7674205G>T	UniProt,dbSNP
TP53	P04637	p.Thr253Asn	VAR_045267	missense variant	-	NC_000017.11:g.7674205G>T	UniProt
TP53	P04637	p.Thr253Ser	COSM43881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674206T>A	NCI-TCGA Cosmic
TP53	P04637	p.Thr253Ala	COSM45322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674206T>C	NCI-TCGA Cosmic
TP53	P04637	p.Thr253Ile	COSM4070036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674205G>A	NCI-TCGA Cosmic
TP53	P04637	p.Thr253HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674207_7674208insA	NCI-TCGA
TP53	P04637	p.Thr253Asn	RCV000601887	missense variant	-	NC_000017.11:g.7674205G>T	ClinVar
TP53	P04637	p.Thr253Ser	VAR_045268	Missense	-	-	UniProt
TP53	P04637	p.Thr253Ala	VAR_045265	Missense	-	-	UniProt
TP53	P04637	p.Thr253Pro	VAR_047193	Missense	-	-	UniProt
TP53	P04637	p.Thr253Ile	VAR_045266	Missense	-	-	UniProt
TP53	P04637	p.Ile254Ser	rs1330865474	missense variant	-	NC_000017.11:g.7674202A>C	UniProt,dbSNP
TP53	P04637	p.Ile254Ser	VAR_045272	missense variant	-	NC_000017.11:g.7674202A>C	UniProt
TP53	P04637	p.Ile254Ser	rs1330865474	missense variant	-	NC_000017.11:g.7674202A>C	gnomAD
TP53	P04637	p.Ile254Val	RCV000485986	missense variant	-	NC_000017.11:g.7674203T>C	ClinVar
TP53	P04637	p.Ile254Ter	RCV000785554	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674205del	ClinVar
TP53	P04637	p.Ile254Val	RCV000573924	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674203T>C	ClinVar
TP53	P04637	p.Ile254Val	RCV000765398	missense variant	Adrenocortical carcinoma, hereditary (ADCC)	NC_000017.11:g.7674203T>C	ClinVar
TP53	P04637	p.Ile254SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674201_7674204GATG>-	NCI-TCGA
TP53	P04637	p.Ile254Val	RCV000477424	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674203T>C	ClinVar
TP53	P04637	p.Ile254Val	rs746601313	missense variant	-	NC_000017.11:g.7674203T>C	ExAC,gnomAD
TP53	P04637	p.Ile254Val	rs746601313	missense variant	-	NC_000017.11:g.7674203T>C	UniProt,dbSNP
TP53	P04637	p.Ile254Val	VAR_045273	missense variant	-	NC_000017.11:g.7674203T>C	UniProt
TP53	P04637	p.Ile254Met	VAR_045271	Missense	-	-	UniProt
TP53	P04637	p.Ile254Asp	VAR_045859	Missense	-	-	UniProt
TP53	P04637	p.Ile254Phe	VAR_045269	Missense	-	-	UniProt
TP53	P04637	p.Ile254Leu	VAR_045270	Missense	-	-	UniProt
TP53	P04637	p.Ile254Thr	VAR_017909	Missense	-	-	UniProt
TP53	P04637	p.Ile254Asn	VAR_017908	Missense	-	-	UniProt
TP53	P04637	p.Ile255Phe	RCV000436027	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000435616	missense variant	Glioblastoma	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000418615	missense variant	Neoplasm of brain	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000436676	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000428426	missense variant	Neoplasm of the breast	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000425759	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Ser	RCV000441504	missense variant	Neoplasm of brain	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Ser	RCV000428170	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Asn	RCV000633370	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674199A>T	ClinVar
TP53	P04637	p.Ile255Ser	RCV000420747	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Ser	rs876659675	missense variant	-	NC_000017.11:g.7674199A>C	UniProt,dbSNP
TP53	P04637	p.Ile255Ser	VAR_045277	missense variant	-	NC_000017.11:g.7674199A>C	UniProt
TP53	P04637	p.Ile255Asn	rs876659675	missense variant	-	NC_000017.11:g.7674199A>T	UniProt,dbSNP
TP53	P04637	p.Ile255Asn	VAR_045276	missense variant	-	NC_000017.11:g.7674199A>T	UniProt
TP53	P04637	p.Ile255Phe	rs1057519995	missense variant	-	NC_000017.11:g.7674200T>A	-
TP53	P04637	p.Ile255Phe	rs1057519995	missense variant	-	NC_000017.11:g.7674200T>A	UniProt,dbSNP
TP53	P04637	p.Ile255Phe	VAR_045274	missense variant	-	NC_000017.11:g.7674200T>A	UniProt
TP53	P04637	p.Ile255Thr	rs876659675	missense variant	-	NC_000017.11:g.7674199A>G	UniProt,dbSNP
TP53	P04637	p.Ile255Thr	VAR_045278	missense variant	-	NC_000017.11:g.7674199A>G	UniProt
TP53	P04637	p.Ile255Phe	RCV000444896	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000785451	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Asn	RCV000221023	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674199A>T	ClinVar
TP53	P04637	p.Ile255Thr	RCV000458707	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674199A>G	ClinVar
TP53	P04637	p.Ile255Ser	RCV000441277	missense variant	Glioblastoma	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Ser	RCV000430544	missense variant	Neoplasm of the breast	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Ser	RCV000417507	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Ser	RCV000423148	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Val	VAR_045279	Missense	-	-	UniProt
TP53	P04637	p.Ile255Met	VAR_045275	Missense	-	-	UniProt
TP53	P04637	p.Thr256Ile	COSM4429608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674196G>A	NCI-TCGA Cosmic
TP53	P04637	p.Thr256AsnPheSerTerUnk	COSM5229649	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674196_7674197insT	NCI-TCGA Cosmic
TP53	P04637	p.Thr256Pro	RCV000633389	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674197T>G	ClinVar
TP53	P04637	p.Thr256Ala	RCV000172827	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674197T>C	ClinVar
TP53	P04637	p.Thr256IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674196_7674197insTA	NCI-TCGA
TP53	P04637	p.Thr256HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674198_7674199insA	NCI-TCGA
TP53	P04637	p.Thr256Ala	RCV000688741	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674197T>C	ClinVar
TP53	P04637	p.Thr256Ter	RCV000219279	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674193_7674197delinsTGGATGTCCTGACCTG	ClinVar
TP53	P04637	p.Thr256Ile	VAR_045280	Missense	-	-	UniProt
TP53	P04637	p.Thr256Ser	VAR_045283	Missense	-	-	UniProt
TP53	P04637	p.Thr256Pro	VAR_045282	Missense	-	-	UniProt
TP53	P04637	p.Thr256Lys	VAR_045281	Missense	-	-	UniProt
TP53	P04637	p.Leu257Gln	rs28934577	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674193A>T	UniProt,dbSNP
TP53	P04637	p.Leu257Gln	VAR_045284	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674193A>T	UniProt
TP53	P04637	p.Leu257Gln	RCV000469142	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674193A>T	ClinVar
TP53	P04637	p.Leu257ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674193_7674194insG	NCI-TCGA
TP53	P04637	p.Leu257Arg	rs28934577	missense variant	-	NC_000017.11:g.7674193A>C	UniProt,dbSNP
TP53	P04637	p.Leu257Arg	VAR_045285	missense variant	-	NC_000017.11:g.7674193A>C	UniProt
TP53	P04637	p.Leu257Arg	RCV000130981	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674193A>C	ClinVar
TP53	P04637	p.Leu257Pro	RCV000540536	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674193A>G	ClinVar
TP53	P04637	p.Leu257Pro	VAR_005989	Missense	-	-	UniProt
TP53	P04637	p.Leu257Val	VAR_045286	Missense	-	-	UniProt
TP53	P04637	p.Glu258Gly	RCV000459389	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674190T>C	ClinVar
TP53	P04637	p.Glu258Ala	RCV000551157	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674190T>G	ClinVar
TP53	P04637	p.Glu258Ter	RCV000785351	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674191C>A	ClinVar
TP53	P04637	p.Glu258Lys	RCV000582699	missense variant	-	NC_000017.11:g.7674191C>T	ClinVar
TP53	P04637	p.Glu258Ter	RCV000565601	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674191C>A	ClinVar
TP53	P04637	p.Glu258Gln	COSM10751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674191C>G	NCI-TCGA Cosmic
TP53	P04637	p.Glu258Asp	COSM1522508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674189T>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu258Ala	rs1060501201	missense variant	-	NC_000017.11:g.7674190T>G	-
TP53	P04637	p.Glu258GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674185_7674192AGTCTTCC>-	NCI-TCGA
TP53	P04637	p.Glu258Lys	rs121912652	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674191C>T	ExAC,gnomAD
TP53	P04637	p.Glu258Lys	rs121912652	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674191C>T	UniProt,dbSNP
TP53	P04637	p.Glu258Lys	VAR_005991	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674191C>T	UniProt
TP53	P04637	p.Glu258Gly	rs1060501201	missense variant	-	NC_000017.11:g.7674190T>C	-
TP53	P04637	p.Glu258Ter	rs121912652	stop gained	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674191C>A	ExAC,gnomAD
TP53	P04637	p.Glu258Val	VAR_045290	Missense	-	-	UniProt
TP53	P04637	p.Glu258Ala	VAR_045287	Missense	-	-	UniProt
TP53	P04637	p.Glu258Asp	VAR_005990	Missense	-	-	UniProt
TP53	P04637	p.Glu258Leu	VAR_045860	Missense	-	-	UniProt
TP53	P04637	p.Glu258Gln	VAR_045289	Missense	-	-	UniProt
TP53	P04637	p.Asp259Gly	RCV000774788	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674187T>C	ClinVar
TP53	P04637	p.Asp259Glu	COSM44459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674186G>T	NCI-TCGA Cosmic
TP53	P04637	p.Asp259Asn	COSM44117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674188C>T	NCI-TCGA Cosmic
TP53	P04637	p.Asp259Val	RCV000663222	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674187T>A	ClinVar
TP53	P04637	p.Asp259Gly	rs745425759	missense variant	-	NC_000017.11:g.7674187T>C	UniProt,dbSNP
TP53	P04637	p.Asp259Gly	VAR_045292	missense variant	-	NC_000017.11:g.7674187T>C	UniProt
TP53	P04637	p.Asp259Gly	rs745425759	missense variant	-	NC_000017.11:g.7674187T>C	ExAC,gnomAD
TP53	P04637	p.Asp259Val	rs745425759	missense variant	-	NC_000017.11:g.7674187T>A	ExAC,gnomAD
TP53	P04637	p.Asp259Tyr	RCV000785271	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674188C>A	ClinVar
TP53	P04637	p.Asp259Gly	RCV000168379	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674187T>C	ClinVar
TP53	P04637	p.Asp259Val	RCV000563029	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674187T>A	ClinVar
TP53	P04637	p.Asp259Tyr	VAR_033039	Missense	-	-	UniProt
TP53	P04637	p.Asp259His	VAR_045293	Missense	-	-	UniProt
TP53	P04637	p.Asp259Asn	VAR_045294	Missense	-	-	UniProt
TP53	P04637	p.Asp259Pro	VAR_045861	Missense	-	-	UniProt
TP53	P04637	p.Asp259Ser	VAR_045862	Missense	-	-	UniProt
TP53	P04637	p.Asp259Ala	VAR_047194	Missense	-	-	UniProt
TP53	P04637	p.Asp259Glu	VAR_045291	Missense	-	-	UniProt
TP53	P04637	p.Asp259Val	VAR_045295	Missense	-	-	UniProt
TP53	P04637	p.Ser260Tyr	RCV000701990	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674184G>T	ClinVar
TP53	P04637	p.Ser260ProPheSerTerUnkUnk	COSM44819	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674185A>-	NCI-TCGA Cosmic
TP53	P04637	p.Ser260Pro	COSM44587	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7674185A>G	NCI-TCGA Cosmic
TP53	P04637	p.Ser260ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7674185_7674186insGTCTTCCAGTGTGATGATGGTGAGGATGG	NCI-TCGA
TP53	P04637	p.Ser260Tyr	RCV000213232	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674184G>T	ClinVar
TP53	P04637	p.Ser260Tyr	rs876658916	missense variant	-	NC_000017.11:g.7674184G>T	UniProt,dbSNP
TP53	P04637	p.Ser260Tyr	VAR_045301	missense variant	-	NC_000017.11:g.7674184G>T	UniProt
TP53	P04637	p.Ser260Tyr	rs876658916	missense variant	-	NC_000017.11:g.7674184G>T	-
TP53	P04637	p.Ser260Pro	VAR_045299	Missense	-	-	UniProt
TP53	P04637	p.Ser260Thr	VAR_045300	Missense	-	-	UniProt
TP53	P04637	p.Ser260Phe	VAR_045298	Missense	-	-	UniProt
TP53	P04637	p.Ser260Cys	VAR_045297	Missense	-	-	UniProt
TP53	P04637	p.Ser260Ala	VAR_045296	Missense	-	-	UniProt
TP53	P04637	p.Ser261ValPheSerTerUnkUnk	COSM45668	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674183G>-	NCI-TCGA Cosmic
TP53	P04637	p.Ser261Ter	COSM5833416	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7674182_7674183insA	NCI-TCGA Cosmic
TP53	P04637	p.Ser261Thr	rs786203396	missense variant	-	NC_000017.11:g.7674181C>G	-
TP53	P04637	p.Ser261Thr	RCV000786823	missense variant	-	NC_000017.11:g.7674181C>G	ClinVar
TP53	P04637	p.Ser261Cys	VAR_045302	Missense	-	-	UniProt
TP53	P04637	p.Ser261Gly	VAR_045303	Missense	-	-	UniProt
TP53	P04637	p.Ser261Arg	VAR_045306	Missense	-	-	UniProt
TP53	P04637	p.Ser261Ile	VAR_045304	Missense	-	-	UniProt
TP53	P04637	p.Ser261Asn	VAR_045305	Missense	-	-	UniProt
TP53	P04637	p.Gly262Val	RCV000492458	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673835C>A	ClinVar
TP53	P04637	p.Gly262ValPheSerTerUnkUnk	COSM45527	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673835C>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly262Ser	RCV000463102	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673836C>T	ClinVar
TP53	P04637	p.Gly262AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673822_7673835TCCCAGTAGATTAC>-	NCI-TCGA
TP53	P04637	p.Gly262Val	rs1131691025	missense variant	-	NC_000017.11:g.7673835C>A	UniProt,dbSNP
TP53	P04637	p.Gly262Val	VAR_045309	missense variant	-	NC_000017.11:g.7673835C>A	UniProt
TP53	P04637	p.Gly262Val	rs1131691025	missense variant	-	NC_000017.11:g.7673835C>A	-
TP53	P04637	p.Gly262Ser	rs200579969	missense variant	-	NC_000017.11:g.7673836C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly262Cys	rs200579969	missense variant	-	NC_000017.11:g.7673836C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly262Ser	RCV000590725	missense variant	-	NC_000017.11:g.7673836C>T	ClinVar
TP53	P04637	p.Gly262Val	RCV000685621	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673835C>A	ClinVar
TP53	P04637	p.Gly262Ter	RCV000236733	frameshift	-	NC_000017.11:g.7673836del	ClinVar
TP53	P04637	p.Gly262Ser	RCV000129643	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673836C>T	ClinVar
TP53	P04637	p.Gly262Ter	RCV000492279	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673836del	ClinVar
TP53	P04637	p.Gly262Asp	VAR_047196	Missense	-	-	UniProt
TP53	P04637	p.Gly262_Asn263delinsProAsp	VAR_047195	deletion_insertion	-	-	UniProt
TP53	P04637	p.Gly262His	VAR_045863	Missense	-	-	UniProt
TP53	P04637	p.Asn263His	rs72661119	missense variant	-	NC_000017.11:g.7673833T>G	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Asn263Lys	RCV000569163	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673831A>T	ClinVar
TP53	P04637	p.Asn263Asp	RCV000663318	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673833T>C	ClinVar
TP53	P04637	p.Asn263IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673832T>-	NCI-TCGA
TP53	P04637	p.Asn263LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673831_7673832insC	NCI-TCGA
TP53	P04637	p.Asn263SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673832_7673833TT>-	NCI-TCGA
TP53	P04637	p.Asn263Asp	rs72661119	missense variant	-	NC_000017.11:g.7673833T>C	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Asn263His	RCV000633354	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673833T>G	ClinVar
TP53	P04637	p.Asn263Lys	rs770598448	missense variant	-	NC_000017.11:g.7673831A>T	ExAC,gnomAD
TP53	P04637	p.Asn263Ser	VAR_045314	Missense	-	-	UniProt
TP53	P04637	p.Asn263His	VAR_045311	Missense	-	-	UniProt
TP53	P04637	p.Asn263Lys	VAR_045313	Missense	-	-	UniProt
TP53	P04637	p.Asn263Ile	VAR_045312	Missense	-	-	UniProt
TP53	P04637	p.Leu264Ter	RCV000472594	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673830del	ClinVar
TP53	P04637	p.Leu264Ter	RCV000506102	frameshift	-	NC_000017.11:g.7673830del	ClinVar
TP53	P04637	p.Leu264TyrPheSerTerUnkUnk	COSM5629555	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673831A>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu264Pro	RCV000575862	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673829A>G	ClinVar
TP53	P04637	p.Leu264Pro	rs1555525353	missense variant	-	NC_000017.11:g.7673829A>G	-
TP53	P04637	p.Leu264Pro	rs1555525353	missense variant	-	NC_000017.11:g.7673829A>G	UniProt,dbSNP
TP53	P04637	p.Leu264Pro	VAR_045316	missense variant	-	NC_000017.11:g.7673829A>G	UniProt
TP53	P04637	p.Leu264Pro	RCV000633364	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673829A>G	ClinVar
TP53	P04637	p.Leu264Arg	VAR_045318	Missense	-	-	UniProt
TP53	P04637	p.Leu264Ile	VAR_045315	Missense	-	-	UniProt
TP53	P04637	p.Leu264Gln	VAR_045317	Missense	-	-	UniProt
TP53	P04637	p.Leu264Val	VAR_045319	Missense	-	-	UniProt
TP53	P04637	p.Leu265Arg	COSM3970345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673826A>C	NCI-TCGA Cosmic
TP53	P04637	p.Leu265ThrPheSerTerUnk	COSM6005483	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673827_7673828insT	NCI-TCGA Cosmic
TP53	P04637	p.LeuGly265LeuTer	rs1555525344	stop gained	-	NC_000017.11:g.7673824_7673825delinsAG	-
TP53	P04637	p.Leu265Pro	rs879253942	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673826A>G	UniProt,dbSNP
TP53	P04637	p.Leu265Pro	VAR_045321	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673826A>G	UniProt
TP53	P04637	p.Leu265Pro	RCV000662855	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673826A>G	ClinVar
TP53	P04637	p.Leu265Met	VAR_045320	Missense	-	-	UniProt
TP53	P04637	p.Leu265Gln	VAR_045322	Missense	-	-	UniProt
TP53	P04637	p.Leu265Arg	VAR_047197	Missense	-	-	UniProt
TP53	P04637	p.Gly266Glu	rs193920774	missense variant	-	NC_000017.11:g.7673823C>T	UniProt,dbSNP
TP53	P04637	p.Gly266Glu	VAR_045324	missense variant	-	NC_000017.11:g.7673823C>T	UniProt
TP53	P04637	p.Gly266Glu	rs193920774	missense variant	-	NC_000017.11:g.7673823C>T	gnomAD
TP53	P04637	p.Gly266AspPheSerTerUnkUnk	COSM44187	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673823C>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly266GluPheSerTerUnk	COSM48975	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673819_7673823CCGTC>-	NCI-TCGA Cosmic
TP53	P04637	p.Gly266Val	RCV000422392	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000434911	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000427379	missense variant	-	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000439374	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000444359	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000429134	missense variant	Small cell lung cancer	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000417840	missense variant	-	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000424659	missense variant	Neoplasm of brain	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Glu	RCV000709403	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673823C>T	ClinVar
TP53	P04637	p.Gly266Ter	RCV000785518	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673825del	ClinVar
TP53	P04637	p.Gly266Ter	RCV000584005	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673824_7673825delinsAG	ClinVar
TP53	P04637	p.Gly266Arg	rs1057519990	missense variant	-	NC_000017.11:g.7673824C>T	gnomAD
TP53	P04637	p.Gly266Arg	rs1057519990	missense variant	-	NC_000017.11:g.7673824C>T	UniProt,dbSNP
TP53	P04637	p.Gly266Arg	VAR_045325	missense variant	-	NC_000017.11:g.7673824C>T	UniProt
TP53	P04637	p.Gly266Val	rs193920774	missense variant	-	NC_000017.11:g.7673823C>A	gnomAD
TP53	P04637	p.Gly266Val	rs193920774	missense variant	-	NC_000017.11:g.7673823C>A	UniProt,dbSNP
TP53	P04637	p.Gly266Val	VAR_045326	missense variant	-	NC_000017.11:g.7673823C>A	UniProt
TP53	P04637	p.Gly266Ter	rs1057519990	stop gained	-	NC_000017.11:g.7673824C>A	gnomAD
TP53	P04637	p.Gly266Arg	rs1057519990	missense variant	-	NC_000017.11:g.7673824C>G	gnomAD
TP53	P04637	p.Gly266Val	RCV000437591	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000445304	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Arg	RCV000803659	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673824C>G	ClinVar
TP53	P04637	p.Gly266Arg	RCV000528667	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673824C>T	ClinVar
TP53	P04637	p.Gly266Val	RCV000422798	missense variant	Glioblastoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000428065	missense variant	Neoplasm of the breast	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000423426	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000433685	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000444283	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000440058	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000435298	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000434748	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Ter	RCV000258052	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673812_7673824del	ClinVar
TP53	P04637	p.Gly266Ala	VAR_045323	Missense	-	-	UniProt
TP53	P04637	p.Arg267Trp	rs55832599	missense variant	-	NC_000017.11:g.7673821G>A	TOPMed,gnomAD
TP53	P04637	p.Arg267Trp	rs55832599	missense variant	-	NC_000017.11:g.7673821G>A	UniProt,dbSNP
TP53	P04637	p.Arg267Trp	VAR_036507	missense variant	-	NC_000017.11:g.7673821G>A	UniProt
TP53	P04637	p.Arg267Gln	rs587780075	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673820C>T	UniProt,dbSNP
TP53	P04637	p.Arg267Gln	VAR_045330	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673820C>T	UniProt
TP53	P04637	p.Arg267Gln	rs587780075	missense variant	-	NC_000017.11:g.7673820C>T	ExAC,gnomAD
TP53	P04637	p.Arg267Trp	RCV000130398	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673821G>A	ClinVar
TP53	P04637	p.Arg267Trp	RCV000413074	missense variant	-	NC_000017.11:g.7673821G>A	ClinVar
TP53	P04637	p.Arg267Gln	RCV000213058	missense variant	-	NC_000017.11:g.7673820C>T	ClinVar
TP53	P04637	p.Arg267Gly	COSM45822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673821G>C	NCI-TCGA Cosmic
TP53	P04637	p.Arg267Leu	COSM13165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673820C>A	NCI-TCGA Cosmic
TP53	P04637	p.Arg267Trp	RCV000538977	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673821G>A	ClinVar
TP53	P04637	p.Arg267Pro	RCV000492273	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673820C>G	ClinVar
TP53	P04637	p.Arg267Gln	RCV000205433	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673820C>T	ClinVar
TP53	P04637	p.Arg267Gln	RCV000115737	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673820C>T	ClinVar
TP53	P04637	p.Arg267Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7673821_7673822insTCCCAGTAGATTACCACTACTCA	NCI-TCGA
TP53	P04637	p.Arg267LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673813_7673820GCTGTTCC>-	NCI-TCGA
TP53	P04637	p.Arg267Pro	rs587780075	missense variant	-	NC_000017.11:g.7673820C>G	ExAC,gnomAD
TP53	P04637	p.Arg267Pro	rs587780075	missense variant	-	NC_000017.11:g.7673820C>G	UniProt,dbSNP
TP53	P04637	p.Arg267Pro	VAR_045329	missense variant	-	NC_000017.11:g.7673820C>G	UniProt
TP53	P04637	p.Arg267Gln	RCV000662441	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673820C>T	ClinVar
TP53	P04637	p.Arg267Trp	RCV000763416	missense variant	Adrenocortical carcinoma, hereditary (ADCC)	NC_000017.11:g.7673821G>A	ClinVar
TP53	P04637	p.Arg267Gly	VAR_045327	Missense	-	-	UniProt
TP53	P04637	p.Arg267His	VAR_045328	Missense	-	-	UniProt
TP53	P04637	p.Asn268ThrPheSerTerUnkUnk	COSM6583	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673819C>-	NCI-TCGA Cosmic
TP53	P04637	p.Asn268IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673817_7673818insTCCGTCCCAGTAGATTACCACTA	NCI-TCGA
TP53	P04637	p.Asn268Ile	VAR_045332	Missense	-	-	UniProt
TP53	P04637	p.Asn268Lys	VAR_045333	Missense	-	-	UniProt
TP53	P04637	p.Asn268Phe	VAR_045864	Missense	-	-	UniProt
TP53	P04637	p.Asn268Tyr	VAR_045335	Missense	-	-	UniProt
TP53	P04637	p.Asn268His	VAR_045331	Missense	-	-	UniProt
TP53	P04637	p.Asn268Ser	VAR_045334	Missense	-	-	UniProt
TP53	P04637	p.Ser269Lys	NCI-TCGA novel	inframe deletion	-	NC_000017.11:g.7673809_7673814CAAAGC>-	NCI-TCGA
TP53	P04637	p.Ser269IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673813_7673814GC>-	NCI-TCGA
TP53	P04637	p.Ser269Thr	VAR_045340	Missense	-	-	UniProt
TP53	P04637	p.Ser269Ile	VAR_047198	Missense	-	-	UniProt
TP53	P04637	p.Ser269Arg	VAR_045339	Missense	-	-	UniProt
TP53	P04637	p.Ser269Cys	VAR_045336	Missense	-	-	UniProt
TP53	P04637	p.Ser269Asn	VAR_045338	Missense	-	-	UniProt
TP53	P04637	p.Ser269Gly	VAR_045337	Missense	-	-	UniProt
TP53	P04637	p.Phe270Ser	rs1057519986	missense variant	-	NC_000017.11:g.7673811A>G	UniProt,dbSNP
TP53	P04637	p.Phe270Ser	VAR_045344	missense variant	-	NC_000017.11:g.7673811A>G	UniProt
TP53	P04637	p.Phe270Ser	rs1057519986	missense variant	-	NC_000017.11:g.7673811A>G	-
TP53	P04637	p.Phe270Ile	RCV000425994	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Leu	RCV000423824	missense variant	Neoplasm of the breast	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000418371	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Val	RCV000425855	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000443210	missense variant	Neoplasm of the breast	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000436003	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Cys	RCV000422121	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000435260	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000425222	missense variant	-	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000443062	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000438306	missense variant	Neoplasm of brain	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000440467	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000427865	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Cys	RCV000434574	missense variant	Neoplasm of the breast	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000785520	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673812A>G	ClinVar
TP53	P04637	p.Phe270Cys	RCV000422786	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000443933	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000432351	missense variant	-	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000432152	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000441020	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Ser	RCV000824076	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673811A>G	ClinVar
TP53	P04637	p.Phe270Ile	RCV000417883	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Leu	RCV000442796	missense variant	-	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000435460	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000434093	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000430671	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000420461	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000433231	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000424190	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000438906	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000426634	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000436185	missense variant	Neoplasm of brain	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270LeuPheSerTerUnkUnk	COSM1651732	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673801_7673810ACGCACCTCA>-	NCI-TCGA Cosmic
TP53	P04637	p.Phe270Ter	RCV000130388	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673805_7673814del	ClinVar
TP53	P04637	p.Phe270Leu	rs1057519987	missense variant	-	NC_000017.11:g.7673810A>C	-
TP53	P04637	p.Phe270Leu	rs1057519987	missense variant	-	NC_000017.11:g.7673810A>C	UniProt,dbSNP
TP53	P04637	p.Phe270Leu	VAR_045343	missense variant	-	NC_000017.11:g.7673810A>C	UniProt
TP53	P04637	p.Phe270Ile	rs1057519988	missense variant	-	NC_000017.11:g.7673812A>T	-
TP53	P04637	p.Phe270Ile	rs1057519988	missense variant	-	NC_000017.11:g.7673812A>T	UniProt,dbSNP
TP53	P04637	p.Phe270Ile	VAR_045342	missense variant	-	NC_000017.11:g.7673812A>T	UniProt
TP53	P04637	p.Phe270Cys	rs1057519986	missense variant	-	NC_000017.11:g.7673811A>C	UniProt,dbSNP
TP53	P04637	p.Phe270Cys	VAR_045341	missense variant	-	NC_000017.11:g.7673811A>C	UniProt
TP53	P04637	p.Phe270Cys	rs1057519986	missense variant	-	NC_000017.11:g.7673811A>C	-
TP53	P04637	p.Phe270Val	rs1057519988	missense variant	-	NC_000017.11:g.7673812A>C	UniProt,dbSNP
TP53	P04637	p.Phe270Val	VAR_045345	missense variant	-	NC_000017.11:g.7673812A>C	UniProt
TP53	P04637	p.Phe270Val	rs1057519988	missense variant	-	NC_000017.11:g.7673812A>C	-
TP53	P04637	p.Phe270Ter	RCV000785457	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673812del	ClinVar
TP53	P04637	p.Phe270Ile	RCV000785257	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Leu	RCV000426445	missense variant	Neoplasm of brain	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000430718	missense variant	Neoplasm of the breast	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Cys	RCV000433925	missense variant	Neoplasm of brain	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000438999	missense variant	-	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Leu	RCV000443660	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000417655	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Tyr	VAR_045346	Missense	-	-	UniProt
TP53	P04637	p.Glu271Lys	RCV000457572	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673809C>T	ClinVar
TP53	P04637	p.Glu271Lys	RCV000775714	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673809C>T	ClinVar
TP53	P04637	p.Glu271Gln	COSM165082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673809C>G	NCI-TCGA Cosmic
TP53	P04637	p.Glu271Ter	COSM131516	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673809C>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu271Val	COSM1610828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673808T>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu271Gly	NCI-TCGA novel	inframe deletion	-	NC_000017.11:g.7673752_7673808GGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCACCT>-	NCI-TCGA
TP53	P04637	p.Glu271Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673809_7673810insA	NCI-TCGA
TP53	P04637	p.Glu271Lys	rs1060501191	missense variant	-	NC_000017.11:g.7673809C>T	-
TP53	P04637	p.GluVal271AspMet	rs1555525303	missense variant	-	NC_000017.11:g.7673806_7673807delinsTA	-
TP53	P04637	p.Glu271AspMet	RCV000570036	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673806_7673807delinsTA	ClinVar
TP53	P04637	p.Glu271Leu	RCV000689318	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673808_7673809delinsAA	ClinVar
TP53	P04637	p.Glu271Ala	VAR_045347	Missense	-	-	UniProt
TP53	P04637	p.Glu271Asp	VAR_045348	Missense	-	-	UniProt
TP53	P04637	p.Glu271Val	VAR_047199	Missense	-	-	UniProt
TP53	P04637	p.Glu271Pro	VAR_045865	Missense	-	-	UniProt
TP53	P04637	p.Glu271Gly	VAR_045349	Missense	-	-	UniProt
TP53	P04637	p.Glu271Arg	VAR_045866	Missense	-	-	UniProt
TP53	P04637	p.Glu271Gln	VAR_045350	Missense	-	-	UniProt
TP53	P04637	p.Val272Leu	rs121912657	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673806C>A	ExAC,gnomAD
TP53	P04637	p.Val272Gly	rs876660333	missense variant	-	NC_000017.11:g.7673805A>C	UniProt,dbSNP
TP53	P04637	p.Val272Gly	VAR_045353	missense variant	-	NC_000017.11:g.7673805A>C	UniProt
TP53	P04637	p.Val272Leu	RCV000437100	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000434621	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000436402	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000428361	missense variant	-	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000424351	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000164988	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000426406	missense variant	-	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000420507	missense variant	Neoplasm of the breast	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000417682	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000418746	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000431193	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000443071	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000434905	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000443570	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000443052	missense variant	Neoplasm of the breast	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000432177	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000432989	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000443589	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000785341	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000436602	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000439021	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000441086	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000425268	missense variant	-	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000426429	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000427077	missense variant	-	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000437706	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000424542	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000434295	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000429369	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000442761	missense variant	Neoplasm of the breast	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000442953	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000441216	missense variant	-	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000439065	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000421804	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000434183	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000430105	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000419845	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000422825	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000433521	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Ala	COSM44294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673805A>G	NCI-TCGA Cosmic
TP53	P04637	p.Val272CysPheSerTerUnkUnk	COSM13421	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673806C>-	NCI-TCGA Cosmic
TP53	P04637	p.Val272Gly	RCV000444129	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000423493	missense variant	-	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Leu	rs121912657	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673806C>A	UniProt,dbSNP
TP53	P04637	p.Val272Leu	VAR_005992	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673806C>A	UniProt
TP53	P04637	p.Val272Met	rs121912657	missense variant	-	NC_000017.11:g.7673806C>T	UniProt,dbSNP
TP53	P04637	p.Val272Met	VAR_045354	missense variant	-	NC_000017.11:g.7673806C>T	UniProt
TP53	P04637	p.Val272Met	rs121912657	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673806C>T	ExAC,gnomAD
TP53	P04637	p.Val272Glu	rs876660333	missense variant	-	NC_000017.11:g.7673805A>T	UniProt,dbSNP
TP53	P04637	p.Val272Glu	VAR_045352	missense variant	-	NC_000017.11:g.7673805A>T	UniProt
TP53	P04637	p.Val272Glu	RCV000427639	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000432569	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000421439	missense variant	-	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000427960	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000424786	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000421184	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000438331	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000441467	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000422297	missense variant	Neoplasm of the breast	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000444340	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000420090	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000431226	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000440060	missense variant	-	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Ala	VAR_045351	Missense	-	-	UniProt
TP53	P04637	p.Arg273Pro	rs28934576	missense variant	-	NC_000017.11:g.7673802C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273Cys	rs121913343	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673803G>A	UniProt,dbSNP
TP53	P04637	p.Arg273Cys	VAR_005993	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673803G>A	UniProt
TP53	P04637	p.Arg273Leu	rs28934576	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>A	UniProt,dbSNP
TP53	P04637	p.Arg273Leu	VAR_036509	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>A	UniProt
TP53	P04637	p.Arg273Ser	rs121913343	missense variant	-	NC_000017.11:g.7673803G>T	UniProt,dbSNP
TP53	P04637	p.Arg273Ser	VAR_045357	missense variant	-	NC_000017.11:g.7673803G>T	UniProt
TP53	P04637	p.Arg273Leu	rs28934576	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673802C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273Pro	RCV000553607	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>G	ClinVar
TP53	P04637	p.Arg273Ser	RCV000561782	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673803G>T	ClinVar
TP53	P04637	p.Arg273Gly	RCV000814073	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673803G>C	ClinVar
TP53	P04637	p.Arg273Gly	RCV000785275	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673803G>C	ClinVar
TP53	P04637	p.Arg273Cys	RCV000205625	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673803G>A	ClinVar
TP53	P04637	p.Arg273LeuPheSerTerUnkUnk	COSM44440	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673802C>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg273His	rs28934576	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673802C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273Pro	rs28934576	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673802C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273Cys	rs121913343	missense variant	-	NC_000017.11:g.7673803G>A	ExAC,gnomAD
TP53	P04637	p.Arg273His	rs28934576	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>T	UniProt,dbSNP
TP53	P04637	p.Arg273His	VAR_005995	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>T	UniProt
TP53	P04637	p.Arg273Ser	rs121913343	missense variant	-	NC_000017.11:g.7673803G>T	ExAC,gnomAD
TP53	P04637	p.Arg273His	rs28934576	missense variant	-	NC_000017.11:g.7673802C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273His	RCV000115738	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673802C>T	ClinVar
TP53	P04637	p.Arg273Leu	RCV000822080	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>A	ClinVar
TP53	P04637	p.Arg273Pro	rs28934576	missense variant	-	NC_000017.11:g.7673802C>G	UniProt,dbSNP
TP53	P04637	p.Arg273Pro	VAR_045355	missense variant	-	NC_000017.11:g.7673802C>G	UniProt
TP53	P04637	p.Arg273Leu	rs28934576	missense variant	-	NC_000017.11:g.7673802C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273Leu	RCV000568814	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673802C>A	ClinVar
TP53	P04637	p.Arg273Asn	VAR_045867	Missense	-	-	UniProt
TP53	P04637	p.Arg273Tyr	VAR_045868	Missense	-	-	UniProt
TP53	P04637	p.Arg273Gln	VAR_045356	Missense	-	-	UniProt
TP53	P04637	p.Arg273Gly	VAR_005994	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Val274Gly	rs1057520006	missense variant	-	NC_000017.11:g.7673799A>C	UniProt,dbSNP
TP53	P04637	p.Val274Gly	VAR_047200	missense variant	-	NC_000017.11:g.7673799A>C	UniProt
TP53	P04637	p.Val274Asp	rs1057520006	missense variant	-	NC_000017.11:g.7673799A>T	UniProt,dbSNP
TP53	P04637	p.Val274Asp	VAR_045359	missense variant	-	NC_000017.11:g.7673799A>T	UniProt
TP53	P04637	p.Val274Phe	RCV000440120	missense variant	Neoplasm of brain	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Asp	RCV000424885	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Phe	RCV000440773	missense variant	Neoplasm of the breast	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Gly	RCV000421122	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Phe	RCV000423526	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Asp	RCV000424200	missense variant	Neoplasm of brain	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Phe	RCV000430114	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Phe	RCV000429450	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Asp	RCV000419239	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Gly	RCV000419865	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Leu	RCV000701251	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673800C>G	ClinVar
TP53	P04637	p.Val274Ala	RCV000438006	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Ala	RCV000421817	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Gly	RCV000437117	missense variant	Neoplasm of brain	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000443884	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Gly	RCV000441279	missense variant	Neoplasm of the breast	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000436477	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Ala	RCV000426067	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Ala	RCV000426772	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Phe	RCV000419355	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Ala	RCV000420150	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Phe	RCV000418736	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Gly	RCV000492506	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Ala	RCV000427353	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Ala	RCV000432482	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Gly	RCV000431168	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Ala	RCV000437438	missense variant	Small cell lung cancer	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Gly	RCV000439046	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Gly	RCV000438367	missense variant	Small cell lung cancer	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Phe	RCV000436116	missense variant	Small cell lung cancer	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Asp	RCV000425563	missense variant	Small cell lung cancer	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Gly	RCV000431803	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000431443	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Gly	RCV000420544	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000441480	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Ala	rs1057520006	missense variant	-	NC_000017.11:g.7673799A>G	UniProt,dbSNP
TP53	P04637	p.Val274Ala	VAR_045358	missense variant	-	NC_000017.11:g.7673799A>G	UniProt
TP53	P04637	p.Val274Phe	rs1057520005	missense variant	-	NC_000017.11:g.7673800C>A	-
TP53	P04637	p.Val274Phe	rs1057520005	missense variant	-	NC_000017.11:g.7673800C>A	UniProt,dbSNP
TP53	P04637	p.Val274Phe	VAR_005997	missense variant	-	NC_000017.11:g.7673800C>A	UniProt
TP53	P04637	p.Val274Leu	rs1057520005	missense variant	-	NC_000017.11:g.7673800C>G	UniProt,dbSNP
TP53	P04637	p.Val274Leu	VAR_045361	missense variant	-	NC_000017.11:g.7673800C>G	UniProt
TP53	P04637	p.Val274Leu	rs1057520005	missense variant	-	NC_000017.11:g.7673800C>G	-
TP53	P04637	p.Val274Gly	RCV000426446	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000432106	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Asp	RCV000434236	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Ala	RCV000444136	missense variant	Neoplasm of the breast	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Phe	RCV000435470	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Gly	RCV000430539	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Phe	RCV000428932	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Asp	RCV000443016	missense variant	Neoplasm of the breast	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Phe	RCV000418237	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Ala	RCV000443517	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Ala	RCV000433292	missense variant	Neoplasm of brain	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Ter	RCV000697629	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673799_7673800AC[1]	ClinVar
TP53	P04637	p.Val274Ile	VAR_045360	Missense	-	-	UniProt
TP53	P04637	p.Cys275Arg	RCV000441393	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000431136	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000425483	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000430390	missense variant	-	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000426139	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000443110	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000424757	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000432909	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Phe	RCV000785323	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000423743	missense variant	Neoplasm of brain	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000428868	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000434455	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Tyr	RCV000235315	missense variant	-	NC_000017.11:g.7673796C>T	ClinVar
TP53	P04637	p.Cys275Phe	RCV000418840	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000423016	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Ser	RCV000580293	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673796C>G	ClinVar
TP53	P04637	p.Cys275Gly	COSM11501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673797A>C	NCI-TCGA Cosmic
TP53	P04637	p.Cys275LeuPheSerTerUnkUnk	COSM318164	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673796C>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys275Ter	COSM1268366	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673795A>T	NCI-TCGA Cosmic
TP53	P04637	p.Cys275ValPheSerTerUnkUnk	COSM45251	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673797A>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys275Trp	NCI-TCGA novel	inframe deletion	-	NC_000017.11:g.7673775_7673795CGGTCTCTCCCAGGACAGGCA>-	NCI-TCGA
TP53	P04637	p.Cys275LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673789_7673798ACAGGCACAA>-	NCI-TCGA
TP53	P04637	p.Cys275Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673783_7673796CCCAGGACAGGCAC>-	NCI-TCGA
TP53	P04637	p.Cys275Trp	RCV000785448	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673795A>C	ClinVar
TP53	P04637	p.Cys275Phe	RCV000436058	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000441009	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000440235	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Arg	rs1057519983	missense variant	-	NC_000017.11:g.7673797A>G	UniProt,dbSNP
TP53	P04637	p.Cys275Arg	VAR_045364	missense variant	-	NC_000017.11:g.7673797A>G	UniProt
TP53	P04637	p.Cys275Phe	rs863224451	missense variant	-	NC_000017.11:g.7673796C>A	UniProt,dbSNP
TP53	P04637	p.Cys275Phe	VAR_045362	missense variant	-	NC_000017.11:g.7673796C>A	UniProt
TP53	P04637	p.Cys275Arg	rs1057519983	missense variant	-	NC_000017.11:g.7673797A>G	-
TP53	P04637	p.Cys275Ser	rs863224451	missense variant	-	NC_000017.11:g.7673796C>G	UniProt,dbSNP
TP53	P04637	p.Cys275Ser	VAR_045365	missense variant	-	NC_000017.11:g.7673796C>G	UniProt
TP53	P04637	p.Cys275Tyr	rs863224451	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673796C>T	UniProt,dbSNP
TP53	P04637	p.Cys275Tyr	VAR_005998	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673796C>T	UniProt
TP53	P04637	p.Cys275Trp	rs1555525279	missense variant	-	NC_000017.11:g.7673795A>C	-
TP53	P04637	p.Cys275Trp	rs1555525279	missense variant	-	NC_000017.11:g.7673795A>C	UniProt,dbSNP
TP53	P04637	p.Cys275Trp	VAR_005999	missense variant	-	NC_000017.11:g.7673795A>C	UniProt
TP53	P04637	p.Cys275Ser	rs863224451	missense variant	-	NC_000017.11:g.7673796C>G	TOPMed,gnomAD
TP53	P04637	p.Cys275Phe	rs863224451	missense variant	-	NC_000017.11:g.7673796C>A	TOPMed,gnomAD
TP53	P04637	p.Cys275Tyr	rs863224451	missense variant	-	NC_000017.11:g.7673796C>T	TOPMed,gnomAD
TP53	P04637	p.Cys275Trp	RCV000561423	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673795A>C	ClinVar
TP53	P04637	p.Cys275Arg	RCV000433579	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000435015	missense variant	Glioblastoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000420225	missense variant	Neoplasm of the breast	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000435695	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000442259	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000418020	missense variant	Neoplasm of brain	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000420853	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000440640	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Phe	RCV000425095	missense variant	Neoplasm of the breast	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000430324	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000441652	missense variant	Glioblastoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000432328	missense variant	-	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000431612	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000429558	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000420903	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000442601	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Gly	VAR_045363	Missense	-	-	UniProt
TP53	P04637	p.Ala276Pro	RCV000785453	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673794C>G	ClinVar
TP53	P04637	p.Ala276Gly	RCV000164718	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673793G>C	ClinVar
TP53	P04637	p.Ala276LeuPheSerTerUnkUnk	COSM6019371	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673794_7673795CA>-	NCI-TCGA Cosmic
TP53	P04637	p.Ala276LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673794_7673795insACAA	NCI-TCGA
TP53	P04637	p.Ala276Asp	RCV000223364	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673793G>T	ClinVar
TP53	P04637	p.Ala276Asp	RCV000236401	missense variant	-	NC_000017.11:g.7673793G>T	ClinVar
TP53	P04637	p.Ala276Gly	rs786202082	missense variant	-	NC_000017.11:g.7673793G>C	UniProt,dbSNP
TP53	P04637	p.Ala276Gly	VAR_045367	missense variant	-	NC_000017.11:g.7673793G>C	UniProt
TP53	P04637	p.Ala276Pro	rs1131691029	missense variant	-	NC_000017.11:g.7673794C>G	UniProt,dbSNP
TP53	P04637	p.Ala276Pro	VAR_045368	missense variant	-	NC_000017.11:g.7673794C>G	UniProt
TP53	P04637	p.Ala276Asp	rs786202082	missense variant	-	NC_000017.11:g.7673793G>T	UniProt,dbSNP
TP53	P04637	p.Ala276Asp	VAR_045366	missense variant	-	NC_000017.11:g.7673793G>T	UniProt
TP53	P04637	p.Ala276Ser	VAR_045369	Missense	-	-	UniProt
TP53	P04637	p.Ala276Val	VAR_045371	Missense	-	-	UniProt
TP53	P04637	p.Ala276Thr	VAR_045370	Missense	-	-	UniProt
TP53	P04637	p.Cys277Tyr	rs763098116	missense variant	-	NC_000017.11:g.7673790C>T	ExAC,gnomAD
TP53	P04637	p.Cys277Phe	rs763098116	missense variant	-	NC_000017.11:g.7673790C>A	UniProt,dbSNP
TP53	P04637	p.Cys277Phe	VAR_045372	missense variant	-	NC_000017.11:g.7673790C>A	UniProt
TP53	P04637	p.Cys277Arg	RCV000819627	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673791A>G	ClinVar
TP53	P04637	p.Cys277Ter	RCV000793572	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673789A>T	ClinVar
TP53	P04637	p.Cys277ValPheSerTerUnkUnk	COSM1324808	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673792G>-	NCI-TCGA Cosmic
TP53	P04637	p.Cys277Trp	COSM45299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673789A>C	NCI-TCGA Cosmic
TP53	P04637	p.Cys277Tyr	RCV000456858	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673790C>T	ClinVar
TP53	P04637	p.Cys277Phe	RCV000532028	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673790C>A	ClinVar
TP53	P04637	p.Cys277Phe	rs763098116	missense variant	-	NC_000017.11:g.7673790C>A	ExAC,gnomAD
TP53	P04637	p.Cys277Tyr	rs763098116	missense variant	-	NC_000017.11:g.7673790C>T	UniProt,dbSNP
TP53	P04637	p.Cys277Tyr	VAR_045375	missense variant	-	NC_000017.11:g.7673790C>T	UniProt
TP53	P04637	p.Cys277Gly	rs1064795369	missense variant	-	NC_000017.11:g.7673791A>C	UniProt,dbSNP
TP53	P04637	p.Cys277Gly	VAR_006000	missense variant	-	NC_000017.11:g.7673791A>C	UniProt
TP53	P04637	p.Cys277Gly	rs1064795369	missense variant	-	NC_000017.11:g.7673791A>C	TOPMed
TP53	P04637	p.Cys277Arg	rs1064795369	missense variant	-	NC_000017.11:g.7673791A>G	TOPMed
TP53	P04637	p.Cys277Arg	rs1064795369	missense variant	-	NC_000017.11:g.7673791A>G	UniProt,dbSNP
TP53	P04637	p.Cys277Arg	VAR_045373	missense variant	-	NC_000017.11:g.7673791A>G	UniProt
TP53	P04637	p.Cys277Trp	VAR_047201	Missense	-	-	UniProt
TP53	P04637	p.Cys277Ser	VAR_045374	Missense	-	-	UniProt
TP53	P04637	p.Pro278Leu	rs876659802	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673787G>A	UniProt,dbSNP
TP53	P04637	p.Pro278Leu	VAR_006003	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673787G>A	UniProt
TP53	P04637	p.Pro278Thr	rs17849781	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>T	UniProt,dbSNP
TP53	P04637	p.Pro278Thr	VAR_006005	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>T	UniProt
TP53	P04637	p.Pro278His	RCV000417607	missense variant	Neoplasm of brain	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000444453	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000433712	missense variant	-	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278LeuPheSerTerUnkUnk	COSM1727548	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673787G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro278LeuPheSerTerUnkUnk	COSM984875	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673787_7673788insGA	NCI-TCGA Cosmic
TP53	P04637	p.Pro278Ser	RCV000427714	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000432977	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000426679	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000433428	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Thr	RCV000626445	missense variant	-	NC_000017.11:g.7673788G>T	ClinVar
TP53	P04637	p.Pro278Ala	RCV000688854	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>C	ClinVar
TP53	P04637	p.Pro278Ser	RCV000421997	missense variant	-	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000435645	missense variant	Neoplasm of the breast	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000442821	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000444293	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Arg	RCV000797363	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673787G>C	ClinVar
TP53	P04637	p.Pro278His	RCV000420265	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000443564	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000437485	missense variant	Neoplasm of the breast	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278Ala	rs17849781	missense variant	-	NC_000017.11:g.7673788G>C	UniProt,dbSNP
TP53	P04637	p.Pro278Ala	VAR_006001	missense variant	-	NC_000017.11:g.7673788G>C	UniProt
TP53	P04637	p.Pro278His	rs876659802	missense variant	-	NC_000017.11:g.7673787G>T	UniProt,dbSNP
TP53	P04637	p.Pro278His	VAR_006002	missense variant	-	NC_000017.11:g.7673787G>T	UniProt
TP53	P04637	p.Pro278Arg	rs876659802	missense variant	-	NC_000017.11:g.7673787G>C	UniProt,dbSNP
TP53	P04637	p.Pro278Arg	VAR_045376	missense variant	-	NC_000017.11:g.7673787G>C	UniProt
TP53	P04637	p.Pro278Ser	rs17849781	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>A	UniProt,dbSNP
TP53	P04637	p.Pro278Ser	VAR_006004	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>A	UniProt
TP53	P04637	p.Pro278Ala	RCV000567850	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673788G>C	ClinVar
TP53	P04637	p.Pro278Ser	RCV000785527	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000443572	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000427094	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000437941	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278His	RCV000424797	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278Arg	RCV000572417	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673787G>C	ClinVar
TP53	P04637	p.Pro278Ser	RCV000432228	missense variant	Neoplasm of brain	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000439725	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278His	RCV000422133	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278Leu	RCV000214784	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673787G>A	ClinVar
TP53	P04637	p.Pro278His	RCV000428293	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000433513	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000426301	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000427682	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000435517	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278Phe	VAR_045869	Missense	-	-	UniProt
TP53	P04637	p.Gly279Glu	RCV000584418	missense variant	-	NC_000017.11:g.7673784C>T	ClinVar
TP53	P04637	p.Gly279Arg	COSM417973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673785C>G	NCI-TCGA Cosmic
TP53	P04637	p.Gly279ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673786_7673787insGGACAGGC	NCI-TCGA
TP53	P04637	p.Gly279Arg	rs1555525248	missense variant	-	NC_000017.11:g.7673785C>T	UniProt,dbSNP
TP53	P04637	p.Gly279Arg	VAR_045377	missense variant	-	NC_000017.11:g.7673785C>T	UniProt
TP53	P04637	p.Gly279Arg	rs1555525248	missense variant	-	NC_000017.11:g.7673785C>T	-
TP53	P04637	p.Gly279Glu	rs1064793881	missense variant	-	NC_000017.11:g.7673784C>T	UniProt,dbSNP
TP53	P04637	p.Gly279Glu	VAR_006006	missense variant	-	NC_000017.11:g.7673784C>T	UniProt
TP53	P04637	p.Gly279Arg	RCV000547189	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673785C>T	ClinVar
TP53	P04637	p.Gly279Arg	RCV000566142	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673785C>T	ClinVar
TP53	P04637	p.Gly279Val	VAR_045378	Missense	-	-	UniProt
TP53	P04637	p.Gly279Trp	VAR_045379	Missense	-	-	UniProt
TP53	P04637	p.Arg280Ile	RCV000421544	missense variant	-	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ile	RCV000438915	missense variant	Neoplasm of the breast	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000444610	missense variant	Small cell lung cancer	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Thr	RCV000013167	missense variant	Nasopharyngeal carcinoma	NC_000017.11:g.7673781C>G	ClinVar
TP53	P04637	p.Arg280Lys	RCV000431165	missense variant	Neoplasm of the breast	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000417523	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ile	RCV000434213	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000436148	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000419067	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000433708	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000427666	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000418023	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000492483	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000437418	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000425366	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000428952	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000423448	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000434436	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000442077	missense variant	Neoplasm of brain	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000425612	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000423739	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Gly	RCV000445156	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000426479	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000421324	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000427170	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000438255	missense variant	Neoplasm of the breast	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000785300	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000439157	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000436708	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Lys	RCV000438568	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000428657	missense variant	Neoplasm of brain	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000440980	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000433592	missense variant	-	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000445006	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000428734	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000442289	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ile	RCV000438665	missense variant	-	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000444685	missense variant	-	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000429336	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000436528	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000435871	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000423933	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000426315	missense variant	Small cell lung cancer	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ile	RCV000419744	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ter	COSM1480058	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673782T>A	NCI-TCGA Cosmic
TP53	P04637	p.Arg280Ser	COSM2744526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673780T>A	NCI-TCGA Cosmic
TP53	P04637	p.Arg280Gly	RCV000439812	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673763_7673781TCCTCTGTGCGCCGGTCTC>-	NCI-TCGA
TP53	P04637	p.Arg280GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673783C>-	NCI-TCGA
TP53	P04637	p.Arg280Gly	RCV000420625	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000430194	missense variant	-	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000418465	missense variant	Small cell lung cancer	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000429590	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000419917	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000431582	missense variant	-	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Ter	RCV000772426	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673781del	ClinVar
TP53	P04637	p.Arg280Gly	rs753660142	missense variant	-	NC_000017.11:g.7673782T>C	ExAC,gnomAD
TP53	P04637	p.Arg280Ile	rs121912660	missense variant	-	NC_000017.11:g.7673781C>A	UniProt,dbSNP
TP53	P04637	p.Arg280Ile	VAR_006008	missense variant	-	NC_000017.11:g.7673781C>A	UniProt
TP53	P04637	p.Arg280Thr	rs121912660	missense variant	-	NC_000017.11:g.7673781C>G	UniProt,dbSNP
TP53	P04637	p.Arg280Thr	VAR_006009	missense variant	-	NC_000017.11:g.7673781C>G	UniProt
TP53	P04637	p.Arg280Lys	rs121912660	missense variant	-	NC_000017.11:g.7673781C>T	UniProt,dbSNP
TP53	P04637	p.Arg280Lys	VAR_006007	missense variant	-	NC_000017.11:g.7673781C>T	UniProt
TP53	P04637	p.Arg280Ser	RCV000785449	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673780T>G	ClinVar
TP53	P04637	p.Arg280Gly	RCV000424417	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000435565	missense variant	Neoplasm of brain	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000439619	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000568150	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Pro	VAR_045381	Missense	-	-	UniProt
TP53	P04637	p.Arg280Ser	VAR_045382	Missense	-	-	UniProt
TP53	P04637	p.Asp281His	rs764146326	missense variant	-	NC_000017.11:g.7673779C>G	UniProt,dbSNP
TP53	P04637	p.Asp281His	VAR_006013	missense variant	-	NC_000017.11:g.7673779C>G	UniProt
TP53	P04637	p.Asp281His	rs764146326	missense variant	-	NC_000017.11:g.7673779C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Asp281Glu	rs1057519984	missense variant	-	NC_000017.11:g.7673777G>T	UniProt,dbSNP
TP53	P04637	p.Asp281Glu	VAR_006011	missense variant	-	NC_000017.11:g.7673777G>T	UniProt
TP53	P04637	p.Asp281Gly	rs587781525	missense variant	-	NC_000017.11:g.7673778T>C	UniProt,dbSNP
TP53	P04637	p.Asp281Gly	VAR_006012	missense variant	-	NC_000017.11:g.7673778T>C	UniProt
TP53	P04637	p.Asp281Glu	RCV000470818	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673777G>T	ClinVar
TP53	P04637	p.Asp281Glu	RCV000633352	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673777G>C	ClinVar
TP53	P04637	p.Asp281Glu	RCV000499361	missense variant	Carcinoma of colon (CRC)	NC_000017.11:g.7673777G>T	ClinVar
TP53	P04637	p.Asp281Ala	RCV000438210	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000434194	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000442104	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000435611	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000427537	missense variant	-	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000417517	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000418100	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281His	RCV000429671	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000436837	missense variant	-	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000427507	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000420094	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000427301	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281Gly	RCV000633367	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673778T>C	ClinVar
TP53	P04637	p.Asp281Val	RCV000440916	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000432892	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000435739	missense variant	Neoplasm of the breast	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000419849	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000435784	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000443934	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000442214	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000433406	missense variant	Neuroblastoma (NBLST1)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000440361	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000426125	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000215048	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000431328	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000425979	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000423186	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000442965	missense variant	-	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000430790	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000440602	missense variant	Glioblastoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000422679	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000424893	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000438736	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000423894	missense variant	Glioblastoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000433464	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281His	RCV000439212	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000438193	missense variant	Neoplasm of the breast	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000428355	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000422034	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000419869	missense variant	-	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000434610	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673777_7673778insTCTC	NCI-TCGA
TP53	P04637	p.Asp281AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673772_7673778CGCCGGT>-	NCI-TCGA
TP53	P04637	p.Asp281GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673775_7673778CGGT>-	NCI-TCGA
TP53	P04637	p.Asp281His	RCV000437082	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000423682	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000443566	missense variant	Glioblastoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281Asn	RCV000824609	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673779C>T	ClinVar
TP53	P04637	p.Asp281Ter	RCV000691758	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673778_7673779TC[2]	ClinVar
TP53	P04637	p.Asp281Val	rs587781525	missense variant	-	NC_000017.11:g.7673778T>A	UniProt,dbSNP
TP53	P04637	p.Asp281Val	VAR_006014	missense variant	-	NC_000017.11:g.7673778T>A	UniProt
TP53	P04637	p.Asp281Asn	rs764146326	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673779C>T	UniProt,dbSNP
TP53	P04637	p.Asp281Asn	VAR_047202	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673779C>T	UniProt
TP53	P04637	p.Asp281Asn	rs764146326	missense variant	-	NC_000017.11:g.7673779C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Asp281Ala	rs587781525	missense variant	-	NC_000017.11:g.7673778T>G	-
TP53	P04637	p.Asp281Tyr	rs764146326	missense variant	-	NC_000017.11:g.7673779C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Asp281Ala	rs587781525	missense variant	-	NC_000017.11:g.7673778T>G	UniProt,dbSNP
TP53	P04637	p.Asp281Ala	VAR_006010	missense variant	-	NC_000017.11:g.7673778T>G	UniProt
TP53	P04637	p.Asp281Tyr	rs764146326	missense variant	-	NC_000017.11:g.7673779C>A	UniProt,dbSNP
TP53	P04637	p.Asp281Tyr	VAR_045383	missense variant	-	NC_000017.11:g.7673779C>A	UniProt
TP53	P04637	p.Asp281His	RCV000429459	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000418744	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000421295	missense variant	Neuroblastoma (NBLST1)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000439019	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281Tyr	RCV000792342	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673779C>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000443096	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000417569	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000425401	missense variant	-	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000420104	missense variant	Neoplasm of the breast	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000435682	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000428503	missense variant	-	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Gly	RCV000129516	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673778T>C	ClinVar
TP53	P04637	p.Asp281Ala	RCV000429708	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000441595	missense variant	Neuroblastoma (NBLST1)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Glu	RCV000658764	missense variant	-	NC_000017.11:g.7673777G>T	ClinVar
TP53	P04637	p.Asp281Ter	RCV000570263	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673777_7673778insC	ClinVar
TP53	P04637	p.Asp281_Arg282delinsGluTrp	VAR_047203	deletion_insertion	-	-	UniProt
TP53	P04637	p.Asp281Arg	VAR_045870	Missense	-	-	UniProt
TP53	P04637	p.Arg282Gly	rs28934574	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673776G>C	UniProt,dbSNP
TP53	P04637	p.Arg282Gly	VAR_045384	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673776G>C	UniProt
TP53	P04637	p.Arg282Trp	rs28934574	missense variant	-	NC_000017.11:g.7673776G>A	ESP,ExAC,gnomAD
TP53	P04637	p.Arg282Gly	RCV000430393	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000435503	missense variant	-	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000419993	missense variant	Neoplasm of brain	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Ter	RCV000492443	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673777del	ClinVar
TP53	P04637	p.Arg282Leu	RCV000213059	missense variant	-	NC_000017.11:g.7673775C>A	ClinVar
TP53	P04637	p.Arg282GlyPheSerTerUnkUnk	COSM43813	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673776G>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg282Gly	RCV000437219	missense variant	Neoplasm of the breast	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000785299	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000437895	missense variant	-	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000440653	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000442540	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	rs28934574	missense variant	-	NC_000017.11:g.7673776G>C	ESP,ExAC,gnomAD
TP53	P04637	p.Arg282Leu	RCV000161038	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673775C>A	ClinVar
TP53	P04637	p.Arg282ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673775_7673776insCGGCG	NCI-TCGA
TP53	P04637	p.Arg282Gln	RCV000226273	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673775C>T	ClinVar
TP53	P04637	p.Arg282Pro	RCV000709402	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673775C>G	ClinVar
TP53	P04637	p.Arg282Pro	rs730882008	missense variant	-	NC_000017.11:g.7673775C>G	TOPMed,gnomAD
TP53	P04637	p.Arg282Gln	rs730882008	missense variant	-	NC_000017.11:g.7673775C>T	TOPMed,gnomAD
TP53	P04637	p.Arg282Trp	rs28934574	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673776G>A	UniProt,dbSNP
TP53	P04637	p.Arg282Trp	VAR_006016	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673776G>A	UniProt
TP53	P04637	p.Arg282Leu	RCV000633381	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673775C>A	ClinVar
TP53	P04637	p.Arg282Gly	RCV000425179	missense variant	Glioblastoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000422134	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000432433	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000431764	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000419333	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000422747	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Trp	RCV000210145	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673776G>A	ClinVar
TP53	P04637	p.Arg282Gly	RCV000430047	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000445294	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000440446	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Leu	rs730882008	missense variant	-	NC_000017.11:g.7673775C>A	TOPMed,gnomAD
TP53	P04637	p.Arg282Gly	RCV000442627	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000427647	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000422367	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282His	VAR_045385	Missense	-	-	UniProt
TP53	P04637	p.Arg283Pro	RCV000565161	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673772C>G	ClinVar
TP53	P04637	p.Arg283Cys	RCV000200641	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673773G>A	ClinVar
TP53	P04637	p.Arg283AlaPheSerTerUnkUnk	COSM3718839	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673774C>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg283Ter	RCV000633386	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673773_7673776delinsCT	ClinVar
TP53	P04637	p.Arg283Ser	rs149633775	missense variant	-	NC_000017.11:g.7673773G>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg283Cys	rs149633775	missense variant	-	NC_000017.11:g.7673773G>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg283Cys	rs149633775	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673773G>A	UniProt,dbSNP
TP53	P04637	p.Arg283Cys	VAR_006017	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673773G>A	UniProt
TP53	P04637	p.Arg283Pro	rs371409680	missense variant	-	NC_000017.11:g.7673772C>G	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg283His	rs371409680	missense variant	-	NC_000017.11:g.7673772C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg283Ser	rs149633775	missense variant	-	NC_000017.11:g.7673773G>T	UniProt,dbSNP
TP53	P04637	p.Arg283Ser	VAR_045389	missense variant	-	NC_000017.11:g.7673773G>T	UniProt
TP53	P04637	p.Arg283Ter	RCV000552974	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673763_7673772del	ClinVar
TP53	P04637	p.Arg283His	RCV000507738	missense variant	-	NC_000017.11:g.7673772C>T	ClinVar
TP53	P04637	p.Arg283Pro	VAR_006020	Missense	-	-	UniProt
TP53	P04637	p.Arg283Leu	VAR_045388	Missense	-	-	UniProt
TP53	P04637	p.Arg283Gly	VAR_006018	Missense	-	-	UniProt
TP53	P04637	p.Thr284Ser	RCV000563243	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673770T>A	ClinVar
TP53	P04637	p.Thr284Ser	RCV000546011	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673770T>A	ClinVar
TP53	P04637	p.Thr284GlnPheSerTerUnkUnk	COSM69017	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673770T>-	NCI-TCGA Cosmic
TP53	P04637	p.Thr284LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673769G>-	NCI-TCGA
TP53	P04637	p.Thr284HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673771_7673772insA	NCI-TCGA
TP53	P04637	p.Thr284Ile	RCV000197045	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673769G>A	ClinVar
TP53	P04637	p.Thr284Pro	rs1204379654	missense variant	-	NC_000017.11:g.7673770T>G	UniProt,dbSNP
TP53	P04637	p.Thr284Pro	VAR_006022	missense variant	-	NC_000017.11:g.7673770T>G	UniProt
TP53	P04637	p.Thr284Pro	rs1204379654	missense variant	-	NC_000017.11:g.7673770T>G	TOPMed
TP53	P04637	p.Thr284Ile	rs863224685	missense variant	-	NC_000017.11:g.7673769G>A	UniProt,dbSNP
TP53	P04637	p.Thr284Ile	VAR_045390	missense variant	-	NC_000017.11:g.7673769G>A	UniProt
TP53	P04637	p.Thr284Ile	rs863224685	missense variant	-	NC_000017.11:g.7673769G>A	TOPMed
TP53	P04637	p.Thr284Ser	rs1204379654	missense variant	-	NC_000017.11:g.7673770T>A	TOPMed
TP53	P04637	p.Thr284Ile	RCV000483278	missense variant	-	NC_000017.11:g.7673769G>A	ClinVar
TP53	P04637	p.Thr284Ile	RCV000569733	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673769G>A	ClinVar
TP53	P04637	p.Thr284Lys	VAR_045391	Missense	-	-	UniProt
TP53	P04637	p.Thr284Ala	VAR_006021	Missense	-	-	UniProt
TP53	P04637	p.Glu285Lys	RCV000479542	missense variant	-	NC_000017.11:g.7673767C>T	ClinVar
TP53	P04637	p.Glu285Lys	RCV000492206	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673767C>T	ClinVar
TP53	P04637	p.Glu285Val	RCV000013184	missense variant	Adrenocortical carcinoma, pediatric	NC_000017.11:g.7673766T>A	ClinVar
TP53	P04637	p.Glu285Val	RCV000813961	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673766T>A	ClinVar
TP53	P04637	p.Glu285Ter	COSM1649344	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673767C>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu285ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673749_7673767TGCGGAGATTCTCTTCCTC>-	NCI-TCGA
TP53	P04637	p.Glu285Val	rs121912667	missense variant	-	NC_000017.11:g.7673766T>A	ExAC,gnomAD
TP53	P04637	p.Glu285Val	rs121912667	missense variant	-	NC_000017.11:g.7673766T>A	UniProt,dbSNP
TP53	P04637	p.Glu285Val	VAR_006025	missense variant	-	NC_000017.11:g.7673766T>A	UniProt
TP53	P04637	p.Glu285Val	RCV000013185	missense variant	Choroid plexus carcinoma (CPC)	NC_000017.11:g.7673766T>A	ClinVar
TP53	P04637	p.Glu285Gln	VAR_006024	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Glu285Asp	VAR_045393	Missense	-	-	UniProt
TP53	P04637	p.Glu285Gly	VAR_045394	Missense	-	-	UniProt
TP53	P04637	p.Glu285Ala	VAR_045392	Missense	-	-	UniProt
TP53	P04637	p.Glu286Gln	rs786201059	missense variant	-	NC_000017.11:g.7673764C>G	UniProt,dbSNP
TP53	P04637	p.Glu286Gln	VAR_006030	missense variant	-	NC_000017.11:g.7673764C>G	UniProt
TP53	P04637	p.Glu286Lys	rs786201059	missense variant	-	NC_000017.11:g.7673764C>T	UniProt,dbSNP
TP53	P04637	p.Glu286Lys	VAR_006029	missense variant	-	NC_000017.11:g.7673764C>T	UniProt
TP53	P04637	p.Glu286Val	RCV000420631	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Gly	RCV000556558	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673763T>C	ClinVar
TP53	P04637	p.Glu286Ala	RCV000444095	missense variant	-	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000439537	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000425922	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000440264	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000436172	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000424971	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000419358	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000427672	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000435554	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000443133	missense variant	Small cell lung cancer	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000443104	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000432539	missense variant	-	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000430190	missense variant	-	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000443946	missense variant	-	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000438282	missense variant	Neoplasm of brain	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000433092	missense variant	Neoplasm of the breast	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000437905	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Lys	RCV000255724	missense variant	-	NC_000017.11:g.7673764C>T	ClinVar
TP53	P04637	p.Glu286Gln	RCV000435596	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000433190	missense variant	Small cell lung cancer	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000436841	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000435774	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000418192	missense variant	-	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000418557	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000423598	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000441497	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000442043	missense variant	Neoplasm of brain	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000431245	missense variant	-	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gly	rs1057519985	missense variant	-	NC_000017.11:g.7673763T>C	UniProt,dbSNP
TP53	P04637	p.Glu286Gly	VAR_006028	missense variant	-	NC_000017.11:g.7673763T>C	UniProt
TP53	P04637	p.Glu286Ala	rs1057519985	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673763T>G	UniProt,dbSNP
TP53	P04637	p.Glu286Ala	VAR_006026	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673763T>G	UniProt
TP53	P04637	p.Glu286Val	rs1057519985	missense variant	-	NC_000017.11:g.7673763T>A	UniProt,dbSNP
TP53	P04637	p.Glu286Val	VAR_045395	missense variant	-	NC_000017.11:g.7673763T>A	UniProt
TP53	P04637	p.Glu286Val	RCV000430739	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000434375	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000423140	missense variant	Neoplasm of the breast	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000443500	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000421331	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000424403	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000430027	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000421888	missense variant	Neoplasm of brain	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000417903	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000443287	missense variant	Small cell lung cancer	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000431576	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000423414	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Lys	RCV000466372	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673764C>T	ClinVar
TP53	P04637	p.Glu286Gln	RCV000441313	missense variant	Neoplasm of the breast	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Ter	RCV000785476	nonsense	Ovarian Neoplasms	NC_000017.11:g.7673764C>A	ClinVar
TP53	P04637	p.Glu286Gln	RCV000428400	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000425968	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000428433	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Lys	RCV000162466	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673764C>T	ClinVar
TP53	P04637	p.Glu286Gln	RCV000422952	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Leu	VAR_045871	Missense	-	-	UniProt
TP53	P04637	p.Glu286Asp	VAR_006027	Missense	-	-	UniProt
TP53	P04637	p.Glu287Lys	RCV000130426	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673761C>T	ClinVar
TP53	P04637	p.Glu287Asp	RCV000481706	missense variant	-	NC_000017.11:g.7673759C>G	ClinVar
TP53	P04637	p.Glu287Asp	RCV000568299	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673759C>G	ClinVar
TP53	P04637	p.Glu287Ter	COSM1646819	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673761C>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu287Asp	COSM44077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673759C>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu287Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7673761C>G	NCI-TCGA
TP53	P04637	p.Glu287ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673733_7673761TGAGGCTCCCCTTTCTTGCGGAGATTCTC>-	NCI-TCGA
TP53	P04637	p.Glu287Lys	rs587782006	missense variant	-	NC_000017.11:g.7673761C>T	UniProt,dbSNP
TP53	P04637	p.Glu287Lys	VAR_045398	missense variant	-	NC_000017.11:g.7673761C>T	UniProt
TP53	P04637	p.Glu287Lys	rs587782006	missense variant	-	NC_000017.11:g.7673761C>T	ExAC,gnomAD
TP53	P04637	p.Glu287Asp	rs748891343	missense variant	-	NC_000017.11:g.7673759C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu287Asp	rs748891343	missense variant	-	NC_000017.11:g.7673759C>G	UniProt,dbSNP
TP53	P04637	p.Glu287Asp	VAR_045396	missense variant	-	NC_000017.11:g.7673759C>G	UniProt
TP53	P04637	p.Glu287Lys	RCV000813960	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673761C>T	ClinVar
TP53	P04637	p.Glu287Val	VAR_045399	Missense	-	-	UniProt
TP53	P04637	p.Glu287Gly	VAR_045397	Missense	-	-	UniProt
TP53	P04637	p.Glu287Ala	VAR_047204	Missense	-	-	UniProt
TP53	P04637	p.Asn288LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673756_7673757insTTCTC	NCI-TCGA
TP53	P04637	p.Asn288GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673758_7673759insC	NCI-TCGA
TP53	P04637	p.Asn288LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673756_7673757insT	NCI-TCGA
TP53	P04637	p.Asn288Ter	RCV000571294	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673772_7673773insCTTCTCTTCCTCTGTGC	ClinVar
TP53	P04637	p.Asn288Ter	RCV000564408	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673759_7673760CT[3]	ClinVar
TP53	P04637	p.Asn288Thr	VAR_045403	Missense	-	-	UniProt
TP53	P04637	p.Asn288Ser	VAR_045402	Missense	-	-	UniProt
TP53	P04637	p.Asn288Lys	VAR_045401	Missense	-	-	UniProt
TP53	P04637	p.Asn288Tyr	VAR_045404	Missense	-	-	UniProt
TP53	P04637	p.Asn288Asp	VAR_045400	Missense	-	-	UniProt
TP53	P04637	p.Leu289Val	rs1555525154	missense variant	-	NC_000017.11:g.7673755G>C	-
TP53	P04637	p.Leu289Val	rs1555525154	missense variant	-	NC_000017.11:g.7673755G>C	UniProt,dbSNP
TP53	P04637	p.Leu289Val	VAR_045409	missense variant	-	NC_000017.11:g.7673755G>C	UniProt
TP53	P04637	p.Leu289Phe	COSM1480056	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673755G>A	NCI-TCGA Cosmic
TP53	P04637	p.Leu289Val	RCV000588420	missense variant	-	NC_000017.11:g.7673755G>C	ClinVar
TP53	P04637	p.Leu289PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673755_7673756insATTCTCTTCCTCTGTGCGCCGCGGAA	NCI-TCGA
TP53	P04637	p.Leu289His	VAR_045406	Missense	-	-	UniProt
TP53	P04637	p.Leu289Phe	VAR_045405	Missense	-	-	UniProt
TP53	P04637	p.Leu289Arg	VAR_045408	Missense	-	-	UniProt
TP53	P04637	p.Leu289Pro	VAR_045407	Missense	-	-	UniProt
TP53	P04637	p.ArgLys290ArgGln	rs1060501205	missense variant	-	NC_000017.11:g.7673749_7673750delinsGT	-
TP53	P04637	p.Arg290LysPheSerTerUnkUnk	COSM297085	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673747_7673753CTTGCGG>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg290Leu	RCV000781912	missense variant	-	NC_000017.11:g.7673751C>A	ClinVar
TP53	P04637	p.Arg290His	RCV000620742	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673751C>T	ClinVar
TP53	P04637	p.Arg290Cys	RCV000236248	missense variant	-	NC_000017.11:g.7673752G>A	ClinVar
TP53	P04637	p.Arg290Cys	RCV000492120	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673752G>A	ClinVar
TP53	P04637	p.Arg290Cys	RCV000198910	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673752G>A	ClinVar
TP53	P04637	p.Arg290AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673753_7673754insAGATTCTCTTCCTCTGTGCGCC	NCI-TCGA
TP53	P04637	p.Arg290SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673752_7673753insGA	NCI-TCGA
TP53	P04637	p.Arg290Gly	RCV000773647	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673752G>C	ClinVar
TP53	P04637	p.Arg290Pro	rs55819519	missense variant	-	NC_000017.11:g.7673751C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg290His	rs55819519	missense variant	-	NC_000017.11:g.7673751C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg290Cys	rs770374782	missense variant	-	NC_000017.11:g.7673752G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg290Pro	RCV000535005	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673751C>G	ClinVar
TP53	P04637	p.Arg290His	RCV000760102	missense variant	-	NC_000017.11:g.7673751C>T	ClinVar
TP53	P04637	p.Arg290His	RCV000213061	missense variant	-	NC_000017.11:g.7673751C>T	ClinVar
TP53	P04637	p.Arg290Leu	VAR_045412	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Lys291Gln	RCV000471030	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673749_7673750delinsGT	ClinVar
TP53	P04637	p.Lys291Asn	RCV000774787	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673747C>G	ClinVar
TP53	P04637	p.Lys291SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673739_7673748TCCCCTTTCT>-	NCI-TCGA
TP53	P04637	p.Lys291Glu	RCV000575139	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673749T>C	ClinVar
TP53	P04637	p.Lys291Asn	rs372613518	missense variant	-	NC_000017.11:g.7673747C>G	UniProt,dbSNP
TP53	P04637	p.Lys291Asn	VAR_045415	missense variant	-	NC_000017.11:g.7673747C>G	UniProt
TP53	P04637	p.Lys291Asn	rs372613518	missense variant	-	NC_000017.11:g.7673747C>G	ESP
TP53	P04637	p.Lys291Glu	rs1555525126	missense variant	-	NC_000017.11:g.7673749T>C	UniProt,dbSNP
TP53	P04637	p.Lys291Glu	VAR_045413	missense variant	-	NC_000017.11:g.7673749T>C	UniProt
TP53	P04637	p.Lys291Glu	rs1555525126	missense variant	-	NC_000017.11:g.7673749T>C	-
TP53	P04637	p.Lys291Arg	rs781490101	missense variant	-	NC_000017.11:g.7673748T>C	UniProt,dbSNP
TP53	P04637	p.Lys291Arg	VAR_045416	missense variant	-	NC_000017.11:g.7673748T>C	UniProt
TP53	P04637	p.Lys291Arg	rs781490101	missense variant	-	NC_000017.11:g.7673748T>C	ExAC,gnomAD
TP53	P04637	p.Lys291Ter	RCV000545094	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673750dup	ClinVar
TP53	P04637	p.Lys291Asn	RCV000820689	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673747C>G	ClinVar
TP53	P04637	p.Lys291Glu	RCV000806261	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673749T>C	ClinVar
TP53	P04637	p.Lys291Thr	VAR_045417	Missense	-	-	UniProt
TP53	P04637	p.Lys291Met	VAR_045414	Missense	-	-	UniProt
TP53	P04637	p.Lys291Gln	VAR_047205	Missense	-	-	UniProt
TP53	P04637	p.Lys292Arg	RCV000457955	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673745T>C	ClinVar
TP53	P04637	p.Lys292Ile	RCV000013177	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673745T>A	ClinVar
TP53	P04637	p.Lys292Arg	RCV000573281	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673745T>C	ClinVar
TP53	P04637	p.Lys292GlyPheSerTerUnkUnk	COSM1480054	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673743_7673746CTTT>-	NCI-TCGA Cosmic
TP53	P04637	p.Lys292Ter	COSM1172458	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673746T>A	NCI-TCGA Cosmic
TP53	P04637	p.Lys292Ile	rs121912663	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673745T>A	UniProt,dbSNP
TP53	P04637	p.Lys292Ile	VAR_015819	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673745T>A	UniProt
TP53	P04637	p.Lys292Ile	rs121912663	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673745T>A	gnomAD
TP53	P04637	p.Lys292Arg	rs121912663	missense variant	-	NC_000017.11:g.7673745T>C	UniProt,dbSNP
TP53	P04637	p.Lys292Arg	VAR_045421	missense variant	-	NC_000017.11:g.7673745T>C	UniProt
TP53	P04637	p.Lys292Arg	rs121912663	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673745T>C	gnomAD
TP53	P04637	p.Lys292Gln	VAR_045420	Missense	-	-	UniProt
TP53	P04637	p.Lys292Gly	VAR_045872	Missense	-	-	UniProt
TP53	P04637	p.Lys292Asn	VAR_045419	Missense	-	-	UniProt
TP53	P04637	p.Lys292Thr	VAR_045422	Missense	-	-	UniProt
TP53	P04637	p.Lys292Glu	VAR_045418	Missense	-	-	UniProt
TP53	P04637	p.Gly293Arg	rs587780076	missense variant	-	NC_000017.11:g.7673743C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly293Arg	rs587780076	missense variant	-	NC_000017.11:g.7673743C>T	UniProt,dbSNP
TP53	P04637	p.Gly293Arg	VAR_045424	missense variant	-	NC_000017.11:g.7673743C>T	UniProt
TP53	P04637	p.Gly293Trp	RCV000115741	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673743C>A	ClinVar
TP53	P04637	p.Gly293Trp	RCV000462367	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673743C>A	ClinVar
TP53	P04637	p.Gly293Trp	RCV000213062	missense variant	-	NC_000017.11:g.7673743C>A	ClinVar
TP53	P04637	p.Gly293Trp	rs587780076	missense variant	-	NC_000017.11:g.7673743C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly293Trp	rs587780076	missense variant	-	NC_000017.11:g.7673743C>A	UniProt,dbSNP
TP53	P04637	p.Gly293Trp	VAR_045426	missense variant	-	NC_000017.11:g.7673743C>A	UniProt
TP53	P04637	p.Gly293Arg	RCV000219408	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673743C>T	ClinVar
TP53	P04637	p.Gly293Trp	RCV000410614	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673743C>A	ClinVar
TP53	P04637	p.Gly293Val	VAR_045425	Missense	-	-	UniProt
TP53	P04637	p.Gly293Ala	VAR_045423	Missense	-	-	UniProt
TP53	P04637	p.Glu294SerPheSerTerUnkUnk	COSM4596399	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673744T>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu294AlaPheSerTerUnkUnk	COSM45736	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673740_7673741CC>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu294SerPheSerTerUnkUnk	COSM44874	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673747C>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu294SerPheSerTerUnkUnk	COSM2744500	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673740C>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu294Ter	rs1057520607	stop gained	-	NC_000017.11:g.7673740C>A	-
TP53	P04637	p.Glu294Asp	rs1305324490	missense variant	-	NC_000017.11:g.7673738C>G	gnomAD
TP53	P04637	p.Glu294Asp	rs1305324490	missense variant	-	NC_000017.11:g.7673738C>G	UniProt,dbSNP
TP53	P04637	p.Glu294Asp	VAR_045428	missense variant	-	NC_000017.11:g.7673738C>G	UniProt
TP53	P04637	p.Glu294Ter	RCV000433836	nonsense	-	NC_000017.11:g.7673740C>A	ClinVar
TP53	P04637	p.Glu294Gln	VAR_045430	Missense	-	-	UniProt
TP53	P04637	p.Glu294Lys	VAR_047206	Missense	-	-	UniProt
TP53	P04637	p.Glu294Val	VAR_045431	Missense	-	-	UniProt
TP53	P04637	p.Glu294Gly	VAR_045429	Missense	-	-	UniProt
TP53	P04637	p.Glu294Ala	VAR_045427	Missense	-	-	UniProt
TP53	P04637	p.Pro295Ser	rs1131691006	missense variant	-	NC_000017.11:g.7673737G>A	UniProt,dbSNP
TP53	P04637	p.Pro295Ser	VAR_045435	missense variant	-	NC_000017.11:g.7673737G>A	UniProt
TP53	P04637	p.Pro295Ser	rs1131691006	missense variant	-	NC_000017.11:g.7673737G>A	gnomAD
TP53	P04637	p.Pro295Leu	rs751713111	missense variant	-	NC_000017.11:g.7673736G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro295Ser	RCV000492128	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673737G>A	ClinVar
TP53	P04637	p.Pro295Leu	RCV000633374	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673736G>A	ClinVar
TP53	P04637	p.Pro295Leu	RCV000486525	missense variant	-	NC_000017.11:g.7673736G>A	ClinVar
TP53	P04637	p.Pro295Arg	rs751713111	missense variant	-	NC_000017.11:g.7673736G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro295Leu	RCV000774786	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673736G>A	ClinVar
TP53	P04637	p.Pro295His	VAR_045432	Missense	-	-	UniProt
TP53	P04637	p.His296Tyr	rs672601296	missense variant	-	NC_000017.11:g.7673734G>A	UniProt,dbSNP
TP53	P04637	p.His296Tyr	VAR_045440	missense variant	-	NC_000017.11:g.7673734G>A	UniProt
TP53	P04637	p.His296ThrPheSerTerUnkUnk	COSM45069	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673734G>-	NCI-TCGA Cosmic
TP53	P04637	p.His296Tyr	RCV000486480	missense variant	-	NC_000017.11:g.7673734G>A	ClinVar
TP53	P04637	p.His296Tyr	RCV000774785	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673734G>A	ClinVar
TP53	P04637	p.His296Arg	rs483352696	missense variant	-	NC_000017.11:g.7673733T>C	-
TP53	P04637	p.His296Arg	rs483352696	missense variant	-	NC_000017.11:g.7673733T>C	UniProt,dbSNP
TP53	P04637	p.His296Arg	VAR_045439	missense variant	-	NC_000017.11:g.7673733T>C	UniProt
TP53	P04637	p.His296Arg	RCV000087174	missense variant	-	NC_000017.11:g.7673733T>C	ClinVar
TP53	P04637	p.His296Tyr	RCV000633378	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673734G>A	ClinVar
TP53	P04637	p.His296Ter	RCV000785495	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673728_7673732del	ClinVar
TP53	P04637	p.His296Asn	VAR_045437	Missense	-	-	UniProt
TP53	P04637	p.His296Leu	VAR_047207	Missense	-	-	UniProt
TP53	P04637	p.His296Cys	VAR_045873	Missense	-	-	UniProt
TP53	P04637	p.His296Asp	VAR_045436	Missense	-	-	UniProt
TP53	P04637	p.His296Pro	VAR_006031	Missense	-	-	UniProt
TP53	P04637	p.His296Gln	VAR_045438	Missense	-	-	UniProt
TP53	P04637	p.His297ThrPheSerTerUnkUnk	COSM4975208	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673731G>-	NCI-TCGA Cosmic
TP53	P04637	p.His297ProPheSerTerUnkUnk	COSM45524	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673730T>-	NCI-TCGA Cosmic
TP53	P04637	p.His297Arg	rs876659477	missense variant	-	NC_000017.11:g.7673730T>C	-
TP53	P04637	p.His297Arg	RCV000214757	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673730T>C	ClinVar
TP53	P04637	p.His297Asn	VAR_045442	Missense	-	-	UniProt
TP53	P04637	p.His297Pro	VAR_045443	Missense	-	-	UniProt
TP53	P04637	p.His297Tyr	VAR_045445	Missense	-	-	UniProt
TP53	P04637	p.His297Asp	VAR_045441	Missense	-	-	UniProt
TP53	P04637	p.Glu298Gln	rs201744589	missense variant	-	NC_000017.11:g.7673728C>G	UniProt,dbSNP
TP53	P04637	p.Glu298Gln	VAR_045449	missense variant	-	NC_000017.11:g.7673728C>G	UniProt
TP53	P04637	p.Glu298Ter	rs201744589	stop gained	-	NC_000017.11:g.7673728C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu298Ter	RCV000559898	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673728C>A	ClinVar
TP53	P04637	p.Glu298Ter	RCV000216964	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673728C>A	ClinVar
TP53	P04637	p.Glu298Lys	RCV000130033	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673728C>T	ClinVar
TP53	P04637	p.Glu298Gln	rs201744589	missense variant	-	NC_000017.11:g.7673728C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu298Lys	rs201744589	missense variant	-	NC_000017.11:g.7673728C>T	UniProt,dbSNP
TP53	P04637	p.Glu298Lys	VAR_045448	missense variant	-	NC_000017.11:g.7673728C>T	UniProt
TP53	P04637	p.Glu298Lys	rs201744589	missense variant	-	NC_000017.11:g.7673728C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu298Ter	RCV000785528	nonsense	Ovarian Neoplasms	NC_000017.11:g.7673728C>A	ClinVar
TP53	P04637	p.Glu298Ter	RCV000079204	nonsense	-	NC_000017.11:g.7673728C>A	ClinVar
TP53	P04637	p.Glu298Val	VAR_045450	Missense	-	-	UniProt
TP53	P04637	p.Glu298Ala	VAR_045446	Missense	-	-	UniProt
TP53	P04637	p.Glu298Asp	VAR_045447	Missense	-	-	UniProt
TP53	P04637	p.Leu299AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673726_7673727insT	NCI-TCGA
TP53	P04637	p.Leu299Ter	RCV000584285	frameshift	-	NC_000017.11:g.7673715_7673728del	ClinVar
TP53	P04637	p.Leu299Val	VAR_045454	Missense	-	-	UniProt
TP53	P04637	p.Leu299Pro	VAR_045451	Missense	-	-	UniProt
TP53	P04637	p.Leu299Gln	VAR_045452	Missense	-	-	UniProt
TP53	P04637	p.Leu299Arg	VAR_045453	Missense	-	-	UniProt
TP53	P04637	p.Pro300Ser	VAR_045457	Missense	-	-	UniProt
TP53	P04637	p.Pro300Ala	VAR_045455	Missense	-	-	UniProt
TP53	P04637	p.Pro300Arg	VAR_006032	Missense	-	-	UniProt
TP53	P04637	p.Pro301Ter	RCV000219373	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673722del	ClinVar
TP53	P04637	p.Pro301GlnPheSerTerUnkUnk	COSM1386588	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673718G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro301Leu	rs1555525067	missense variant	-	NC_000017.11:g.7673718G>A	-
TP53	P04637	p.Pro301Leu	rs1555525067	missense variant	-	NC_000017.11:g.7673718G>A	UniProt,dbSNP
TP53	P04637	p.Pro301Leu	VAR_006033	missense variant	-	NC_000017.11:g.7673718G>A	UniProt
TP53	P04637	p.Pro301Leu	RCV000574619	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673718G>A	ClinVar
TP53	P04637	p.Pro301Ala	VAR_045458	Missense	-	-	UniProt
TP53	P04637	p.Pro301Thr	VAR_047208	Missense	-	-	UniProt
TP53	P04637	p.Pro301Gln	VAR_045459	Missense	-	-	UniProt
TP53	P04637	p.Pro301Ser	VAR_045460	Missense	-	-	UniProt
TP53	P04637	p.Gly302ArgPheSerTerUnk	COSM5132148	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673717_7673718insG	NCI-TCGA Cosmic
TP53	P04637	p.Gly302AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673705_7673715CTTAGTGCTCC>-	NCI-TCGA
TP53	P04637	p.Gly302GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673714_7673715CC>-	NCI-TCGA
TP53	P04637	p.Gly302Arg	rs863224686	missense variant	-	NC_000017.11:g.7673716C>G	UniProt,dbSNP
TP53	P04637	p.Gly302Arg	VAR_045462	missense variant	-	NC_000017.11:g.7673716C>G	UniProt
TP53	P04637	p.Gly302Arg	rs863224686	missense variant	-	NC_000017.11:g.7673716C>G	-
TP53	P04637	p.Gly302Glu	RCV000468864	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673715C>T	ClinVar
TP53	P04637	p.Gly302Glu	rs1060501202	missense variant	-	NC_000017.11:g.7673715C>T	-
TP53	P04637	p.Gly302Arg	RCV000197011	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673716C>G	ClinVar
TP53	P04637	p.Gly302Val	VAR_006035	Missense	-	-	UniProt
TP53	P04637	p.Gly302Ala	VAR_045461	Missense	-	-	UniProt
TP53	P04637	p.Ser303Ter	RCV000164675	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673716del	ClinVar
TP53	P04637	p.Ser303AlaPheSerTerUnkUnk	COSM437474	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673713T>-	NCI-TCGA Cosmic
TP53	P04637	p.Ser303Gly	RCV000549010	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673713T>C	ClinVar
TP53	P04637	p.Ser303Gly	RCV000131400	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673713T>C	ClinVar
TP53	P04637	p.Ser303Gly	RCV000760105	missense variant	-	NC_000017.11:g.7673713T>C	ClinVar
TP53	P04637	p.Ser303Ter	RCV000785534	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673712_7673713insCCCC	ClinVar
TP53	P04637	p.Ser303Asn	RCV000218916	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673712C>T	ClinVar
TP53	P04637	p.Ser303Gly	rs587782391	missense variant	-	NC_000017.11:g.7673713T>C	TOPMed
TP53	P04637	p.Ser303Asn	rs876658714	missense variant	-	NC_000017.11:g.7673712C>T	-
TP53	P04637	p.Ser303Asn	RCV000700080	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673712C>T	ClinVar
TP53	P04637	p.Ser303Ile	VAR_045464	Missense	-	-	UniProt
TP53	P04637	p.Ser303Thr	VAR_045466	Missense	-	-	UniProt
TP53	P04637	p.Ser303Cys	VAR_045463	Missense	-	-	UniProt
TP53	P04637	p.Thr304Ala	rs587782654	missense variant	-	NC_000017.11:g.7673710T>C	UniProt,dbSNP
TP53	P04637	p.Thr304Ala	VAR_045467	missense variant	-	NC_000017.11:g.7673710T>C	UniProt
TP53	P04637	p.Thr304Ala	rs587782654	missense variant	-	NC_000017.11:g.7673710T>C	ExAC,gnomAD
TP53	P04637	p.Thr304IlePheSerTerUnkUnk	COSM4746583	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673709G>-	NCI-TCGA Cosmic
TP53	P04637	p.Thr304Ala	RCV000132069	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673710T>C	ClinVar
TP53	P04637	p.Thr304Ile	VAR_045468	Missense	-	-	UniProt
TP53	P04637	p.Thr304Ser	VAR_047209	Missense	-	-	UniProt
TP53	P04637	p.Thr304Asn	VAR_045469	Missense	-	-	UniProt
TP53	P04637	p.Lys305Ter	COSM1646821	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673707T>A	NCI-TCGA Cosmic
TP53	P04637	p.Lys305Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7673707T>G	NCI-TCGA
TP53	P04637	p.Lys305GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673704_7673707GCTT>-	NCI-TCGA
TP53	P04637	p.Lys305Ter	RCV000776787	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673708dup	ClinVar
TP53	P04637	p.Lys305Asn	VAR_045472	Missense	-	-	UniProt
TP53	P04637	p.Lys305Arg	VAR_045473	Missense	-	-	UniProt
TP53	P04637	p.Lys305Met	VAR_045471	Missense	-	-	UniProt
TP53	P04637	p.Lys305Thr	VAR_045474	Missense	-	-	UniProt
TP53	P04637	p.Lys305Glu	VAR_045470	Missense	-	-	UniProt
TP53	P04637	p.Arg306Gln	rs1048095040	missense variant	-	NC_000017.11:g.7673703C>T	gnomAD
TP53	P04637	p.Arg306Ter	RCV000422102	nonsense	Head and Neck Neoplasms	NC_000017.11:g.7673704G>A	ClinVar
TP53	P04637	p.Arg306Gln	RCV000527123	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673703C>T	ClinVar
TP53	P04637	p.Arg306Ter	RCV000428901	nonsense	Neoplasm of the large intestine	NC_000017.11:g.7673704G>A	ClinVar
TP53	P04637	p.Arg306GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673703C>-	NCI-TCGA
TP53	P04637	p.Arg306AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673704_7673705insC	NCI-TCGA
TP53	P04637	p.Arg306Pro	VAR_045475	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Ala307Gly	RCV000568377	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673608G>C	ClinVar
TP53	P04637	p.Ala307ThrPheSerTerUnkUnk	COSM111649	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673701_7673702CT>-	NCI-TCGA Cosmic
TP53	P04637	p.Ala307Val	rs1457582183	missense variant	-	NC_000017.11:g.7673608G>A	TOPMed
TP53	P04637	p.Ala307Gly	rs1457582183	missense variant	-	NC_000017.11:g.7673608G>C	TOPMed
TP53	P04637	p.Ala307Pro	VAR_045476	Missense	-	-	UniProt
TP53	P04637	p.Ala307Thr	VAR_006037	Missense	-	-	UniProt
TP53	P04637	p.Ala307Ser	VAR_045477	Missense	-	-	UniProt
TP53	P04637	p.Leu308AlaPheSerTerUnkUnk	COSM5221252	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673606_7673607GT>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu308GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673603_7673607GCAGT>-	NCI-TCGA
TP53	P04637	p.Leu308Met	VAR_045478	Missense	-	-	UniProt
TP53	P04637	p.Leu308Val	VAR_045479	Missense	-	-	UniProt
TP53	P04637	p.Pro309Ser	RCV000574214	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673603G>A	ClinVar
TP53	P04637	p.Pro309Ser	RCV000537437	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673603G>A	ClinVar
TP53	P04637	p.Pro309Ser	rs1555525012	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673603G>A	UniProt,dbSNP
TP53	P04637	p.Pro309Ser	VAR_006038	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673603G>A	UniProt
TP53	P04637	p.Pro309Ser	rs1555525012	missense variant	-	NC_000017.11:g.7673603G>A	-
TP53	P04637	p.Pro309Arg	VAR_045480	Missense	-	-	UniProt
TP53	P04637	p.Asn310Lys	rs876660829	missense variant	-	NC_000017.11:g.7673598G>T	gnomAD
TP53	P04637	p.Asn310ThrPheSerTerUnkUnk	COSM249311	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673601G>-	NCI-TCGA Cosmic
TP53	P04637	p.Asn310Lys	RCV000797410	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673598G>T	ClinVar
TP53	P04637	p.Asn310Lys	RCV000492463	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673598G>C	ClinVar
TP53	P04637	p.Asn310Lys	rs876660829	missense variant	-	NC_000017.11:g.7673598G>C	gnomAD
TP53	P04637	p.Asn310Lys	RCV000221944	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673598G>T	ClinVar
TP53	P04637	p.Asn310Ile	VAR_045481	Missense	-	-	UniProt
TP53	P04637	p.Asn310Thr	VAR_045482	Missense	-	-	UniProt
TP53	P04637	p.Asn311Thr	RCV000205077	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673596T>G	ClinVar
TP53	P04637	p.Asn311Ter	RCV000785552	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673595del	ClinVar
TP53	P04637	p.Asn311His	RCV000774977	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673597T>G	ClinVar
TP53	P04637	p.Asn311Ser	rs56184981	missense variant	-	NC_000017.11:g.7673596T>C	UniProt,dbSNP
TP53	P04637	p.Asn311Ser	VAR_045485	missense variant	-	NC_000017.11:g.7673596T>C	UniProt
TP53	P04637	p.Asn311Ser	rs56184981	missense variant	-	NC_000017.11:g.7673596T>C	-
TP53	P04637	p.Asn311His	rs1555525007	missense variant	-	NC_000017.11:g.7673597T>G	UniProt,dbSNP
TP53	P04637	p.Asn311His	VAR_045483	missense variant	-	NC_000017.11:g.7673597T>G	UniProt
TP53	P04637	p.Asn311Thr	rs56184981	missense variant	-	NC_000017.11:g.7673596T>G	-
TP53	P04637	p.Asn311Thr	rs56184981	missense variant	-	NC_000017.11:g.7673596T>G	UniProt,dbSNP
TP53	P04637	p.Asn311Thr	VAR_045486	missense variant	-	NC_000017.11:g.7673596T>G	UniProt
TP53	P04637	p.Asn311Ser	RCV000473016	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673596T>C	ClinVar
TP53	P04637	p.Asn311Lys	VAR_045484	Missense	-	-	UniProt
TP53	P04637	p.Thr312Ser	RCV000129462	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673593G>C	ClinVar
TP53	P04637	p.Thr312Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7673593G>T	NCI-TCGA
TP53	P04637	p.Thr312Ser	rs145151284	missense variant	-	NC_000017.11:g.7673593G>C	UniProt,dbSNP
TP53	P04637	p.Thr312Ser	VAR_045488	missense variant	-	NC_000017.11:g.7673593G>C	UniProt
TP53	P04637	p.Thr312Ser	rs145151284	missense variant	-	NC_000017.11:g.7673593G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Thr312Ile	VAR_045487	Missense	-	-	UniProt
TP53	P04637	p.Ser313AlaPheSerTerUnkUnk	COSM2149481	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673592G>-	NCI-TCGA Cosmic
TP53	P04637	p.Ser313ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673590C>-	NCI-TCGA
TP53	P04637	p.Ser313Ter	RCV000785505	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673583_7673592del	ClinVar
TP53	P04637	p.Ser313Arg	rs1367492395	missense variant	-	NC_000017.11:g.7673589G>T	TOPMed
TP53	P04637	p.Ser313Arg	rs1367492395	missense variant	-	NC_000017.11:g.7673589G>T	UniProt,dbSNP
TP53	P04637	p.Ser313Arg	VAR_045492	missense variant	-	NC_000017.11:g.7673589G>T	UniProt
TP53	P04637	p.Ser313Asn	VAR_045491	Missense	-	-	UniProt
TP53	P04637	p.Ser313Cys	VAR_045489	Missense	-	-	UniProt
TP53	P04637	p.Ser313Ile	VAR_045490	Missense	-	-	UniProt
TP53	P04637	p.Ser314Phe	RCV000570325	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673587G>A	ClinVar
TP53	P04637	p.Ser314Phe	RCV000456310	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673587G>A	ClinVar
TP53	P04637	p.Ser314Phe	rs751440465	missense variant	-	NC_000017.11:g.7673587G>A	ExAC,gnomAD
TP53	P04637	p.Ser315Thr	rs762620193	missense variant	-	NC_000017.11:g.7673585A>T	ExAC,gnomAD
TP53	P04637	p.Ser315Cys	COSM45098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673584G>C	NCI-TCGA Cosmic
TP53	P04637	p.Ser315Thr	RCV000793553	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673585A>T	ClinVar
TP53	P04637	p.Ser315Thr	RCV000164586	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673585A>T	ClinVar
TP53	P04637	p.Ser315Cys	VAR_045494	Missense	-	-	UniProt
TP53	P04637	p.Ser315Phe	VAR_045495	Missense	-	-	UniProt
TP53	P04637	p.Ser315Pro	VAR_045496	Missense	-	-	UniProt
TP53	P04637	p.Pro316Thr	rs772773208	missense variant	-	NC_000017.11:g.7673582G>T	UniProt,dbSNP
TP53	P04637	p.Pro316Thr	VAR_045498	missense variant	-	NC_000017.11:g.7673582G>T	UniProt
TP53	P04637	p.Pro316Thr	rs772773208	missense variant	-	NC_000017.11:g.7673582G>T	ExAC,gnomAD
TP53	P04637	p.Pro316Thr	RCV000467467	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673582G>T	ClinVar
TP53	P04637	p.Pro316SerPheSerTerUnkUnk	COSM69194	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673582_7673583insA	NCI-TCGA Cosmic
TP53	P04637	p.Pro316Thr	RCV000235672	missense variant	-	NC_000017.11:g.7673582G>T	ClinVar
TP53	P04637	p.Pro316Leu	rs1555524979	missense variant	-	NC_000017.11:g.7673581G>A	UniProt,dbSNP
TP53	P04637	p.Pro316Leu	VAR_045497	missense variant	-	NC_000017.11:g.7673581G>A	UniProt
TP53	P04637	p.Pro316Leu	rs1555524979	missense variant	-	NC_000017.11:g.7673581G>A	-
TP53	P04637	p.Pro316Leu	RCV000633395	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673581G>A	ClinVar
TP53	P04637	p.Pro316Thr	RCV000215470	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673582G>T	ClinVar
TP53	P04637	p.Gln317Arg	rs1159579789	missense variant	-	NC_000017.11:g.7673578T>C	gnomAD
TP53	P04637	p.Gln317His	rs1060501199	missense variant	-	NC_000017.11:g.7673577C>A	-
TP53	P04637	p.Gln317Lys	rs764735889	missense variant	-	NC_000017.11:g.7673579G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln317Ter	rs764735889	stop gained	-	NC_000017.11:g.7673579G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln317His	RCV000477030	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673577C>A	ClinVar
TP53	P04637	p.Gln317Arg	RCV000704730	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673578T>C	ClinVar
TP53	P04637	p.Gln317ProPheSerTerUnkUnk	COSM4603956	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673578_7673579insG	NCI-TCGA Cosmic
TP53	P04637	p.Gln317AlaPheSerTerUnkUnk	COSM111396	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673582_7673583GA>-	NCI-TCGA Cosmic
TP53	P04637	p.Gln317Ter	RCV000561039	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673578del	ClinVar
TP53	P04637	p.Gln317LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673548_7673578TATTCTCCATCCAGTGGTTTCTTCTTTGGCT>-	NCI-TCGA
TP53	P04637	p.Gln317Lys	RCV000485421	missense variant	-	NC_000017.11:g.7673579G>T	ClinVar
TP53	P04637	p.Gln317Lys	RCV000223439	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673579G>T	ClinVar
TP53	P04637	p.Gln317Lys	RCV000541248	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673579G>T	ClinVar
TP53	P04637	p.Gln317Ter	RCV000520579	nonsense	-	NC_000017.11:g.7673579G>A	ClinVar
TP53	P04637	p.Gln317Ter	RCV000699992	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673582del	ClinVar
TP53	P04637	p.Gln317Lys	rs764735889	missense variant	-	NC_000017.11:g.7673579G>T	UniProt,dbSNP
TP53	P04637	p.Gln317Lys	VAR_045500	missense variant	-	NC_000017.11:g.7673579G>T	UniProt
TP53	P04637	p.Gln317Ter	RCV000785340	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673582del	ClinVar
TP53	P04637	p.Gln317Leu	VAR_047210	Missense	-	-	UniProt
TP53	P04637	p.Gln317Pro	VAR_045501	Missense	-	-	UniProt
TP53	P04637	p.Pro318ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673567_7673577TCTTCTTTGGC>-	NCI-TCGA
TP53	P04637	p.Pro318Leu	rs1555524975	missense variant	-	NC_000017.11:g.7673575G>A	-
TP53	P04637	p.Pro318Leu	rs1555524975	missense variant	-	NC_000017.11:g.7673575G>A	UniProt,dbSNP
TP53	P04637	p.Pro318Leu	VAR_045503	missense variant	-	NC_000017.11:g.7673575G>A	UniProt
TP53	P04637	p.Pro318Leu	RCV000584424	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673575G>A	ClinVar
TP53	P04637	p.Lys319Asn	COSM4824146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673571C>G	NCI-TCGA Cosmic
TP53	P04637	p.Lys319Ter	COSM11658	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673573T>A	NCI-TCGA Cosmic
TP53	P04637	p.Lys319AlaPheSerTerUnkUnk	COSM288986	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673573_7673574insTGGC	NCI-TCGA Cosmic
TP53	P04637	p.Lys319ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673572T>-	NCI-TCGA
TP53	P04637	p.Lys319Glu	VAR_045504	Missense	-	-	UniProt
TP53	P04637	p.Lys319Arg	VAR_045506	Missense	-	-	UniProt
TP53	P04637	p.Lys319Asn	VAR_045505	Missense	-	-	UniProt
TP53	P04637	p.Lys320ArgPheSerTerUnkUnk	COSM5016725	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673571C>-	NCI-TCGA Cosmic
TP53	P04637	p.Lys320ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673560_7673569AGTGGTTTCT>-	NCI-TCGA
TP53	P04637	p.Lys320Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7673570T>C	NCI-TCGA
TP53	P04637	p.Lys320AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673550_7673568TTCTCCATCCAGTGGTTTC>-	NCI-TCGA
TP53	P04637	p.Lys320Asn	VAR_045507	Missense	-	-	UniProt
TP53	P04637	p.Lys321Ter	COSM3732985	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673567T>A	NCI-TCGA Cosmic
TP53	P04637	p.Lys321GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673568_7673569insT	NCI-TCGA
TP53	P04637	p.Lys321Glu	VAR_045508	Missense	-	-	UniProt
TP53	P04637	p.Lys321Arg	VAR_045509	Missense	-	-	UniProt
TP53	P04637	p.Pro322Ser	rs863224687	missense variant	-	NC_000017.11:g.7673564G>A	TOPMed
TP53	P04637	p.Pro322HisPheSerTerUnkUnk	COSM295895	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673563G>-	NCI-TCGA Cosmic
TP53	P04637	p.Pro322Ser	RCV000573146	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673564G>A	ClinVar
TP53	P04637	p.Pro322Thr	rs863224687	missense variant	-	NC_000017.11:g.7673564G>T	TOPMed
TP53	P04637	p.Pro322Ser	RCV000195973	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673564G>A	ClinVar
TP53	P04637	p.Pro322Thr	RCV000217039	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673564G>T	ClinVar
TP53	P04637	p.Pro322Arg	VAR_045511	Missense	-	-	UniProt
TP53	P04637	p.Pro322Leu	VAR_045510	Missense	-	-	UniProt
TP53	P04637	p.Leu323Ter	RCV000772929	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673545_7673563del	ClinVar
TP53	P04637	p.Leu323Val	rs1432281680	missense variant	-	NC_000017.11:g.7673561G>C	gnomAD
TP53	P04637	p.Leu323Gly	VAR_045874	Missense	-	-	UniProt
TP53	P04637	p.Leu323Arg	VAR_045514	Missense	-	-	UniProt
TP53	P04637	p.Leu323Met	VAR_045512	Missense	-	-	UniProt
TP53	P04637	p.Leu323Pro	VAR_045513	Missense	-	-	UniProt
TP53	P04637	p.Asp324His	rs1064794810	missense variant	-	NC_000017.11:g.7673558C>G	TOPMed,gnomAD
TP53	P04637	p.Asp324Tyr	RCV000776836	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673558C>A	ClinVar
TP53	P04637	p.Asp324His	RCV000478385	missense variant	-	NC_000017.11:g.7673558C>G	ClinVar
TP53	P04637	p.Asp324His	RCV000555965	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673558C>G	ClinVar
TP53	P04637	p.Asp324Gly	rs1177881399	missense variant	-	NC_000017.11:g.7673557T>C	gnomAD
TP53	P04637	p.Asp324Asn	rs1064794810	missense variant	-	NC_000017.11:g.7673558C>T	TOPMed,gnomAD
TP53	P04637	p.Asp324Ter	RCV000583103	frameshift	-	NC_000017.11:g.7673559del	ClinVar
TP53	P04637	p.Asp324His	RCV000573045	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673558C>G	ClinVar
TP53	P04637	p.Asp324Tyr	VAR_045516	Missense	-	-	UniProt
TP53	P04637	p.Asp324Ser	VAR_045875	Missense	-	-	UniProt
TP53	P04637	p.Asp324Glu	VAR_045515	Missense	-	-	UniProt
TP53	P04637	p.Gly325Val	rs121912659	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673554C>A	UniProt,dbSNP
TP53	P04637	p.Gly325Val	VAR_006039	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673554C>A	UniProt
TP53	P04637	p.Gly325Glu	RCV000566077	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673554C>T	ClinVar
TP53	P04637	p.Gly325Val	RCV000013165	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7673554C>A	ClinVar
TP53	P04637	p.Gly325Val	RCV000013166	missense variant	Familial colorectal cancer (CRC)	NC_000017.11:g.7673554C>A	ClinVar
TP53	P04637	p.Gly325Arg	RCV000568856	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673555C>T	ClinVar
TP53	P04637	p.Gly325Glu	rs121912659	missense variant	-	NC_000017.11:g.7673554C>T	gnomAD
TP53	P04637	p.Gly325Val	rs121912659	missense variant	-	NC_000017.11:g.7673554C>A	gnomAD
TP53	P04637	p.Gly325Ter	RCV000195434	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673555C>A	ClinVar
TP53	P04637	p.Gly325Ala	VAR_045517	Missense	-	-	UniProt
TP53	P04637	p.Gly325Glu	VAR_045518	Missense	-	-	UniProt
TP53	P04637	p.Glu326Ter	rs876659384	stop gained	-	NC_000017.11:g.7673552C>A	-
TP53	P04637	p.Glu326Asp	rs1000256867	missense variant	-	NC_000017.11:g.7673550T>A	gnomAD
TP53	P04637	p.Glu326Asp	rs1000256867	missense variant	-	NC_000017.11:g.7673550T>G	gnomAD
TP53	P04637	p.Glu326Ter	RCV000218971	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673552C>A	ClinVar
TP53	P04637	p.Glu326Ter	RCV000633385	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673552C>A	ClinVar
TP53	P04637	p.Glu326Ter	RCV000785490	nonsense	Ovarian Neoplasms	NC_000017.11:g.7673552C>A	ClinVar
TP53	P04637	p.Glu326Gly	VAR_045519	Missense	-	-	UniProt
TP53	P04637	p.Tyr327Ter	COSM4398578	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673547A>T	NCI-TCGA Cosmic
TP53	P04637	p.Tyr327PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673548T>-	NCI-TCGA
TP53	P04637	p.Tyr327AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673553_7673554insCC	NCI-TCGA
TP53	P04637	p.Tyr327Ter	RCV000235861	nonsense	-	NC_000017.11:g.7673547A>C	ClinVar
TP53	P04637	p.Tyr327Ter	rs879254077	stop gained	-	NC_000017.11:g.7673547A>C	-
TP53	P04637	p.Tyr327Ser	VAR_045521	Missense	-	-	UniProt
TP53	P04637	p.Tyr327His	VAR_045520	Missense	-	-	UniProt
TP53	P04637	p.Phe328SerPheSerTerUnkUnk	COSM437470	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673545A>-	NCI-TCGA Cosmic
TP53	P04637	p.Phe328Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7673546A>T	NCI-TCGA
TP53	P04637	p.Phe328Ser	VAR_045523	Missense	-	-	UniProt
TP53	P04637	p.Phe328Val	VAR_045524	Missense	-	-	UniProt
TP53	P04637	p.Phe328Leu	VAR_045522	Missense	-	-	UniProt
TP53	P04637	p.Thr329Ter	RCV000286554	frameshift	-	NC_000017.11:g.7673547dup	ClinVar
TP53	P04637	p.Thr329HisPheSerTerUnk	COSM100040	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673544_7673545insA	NCI-TCGA Cosmic
TP53	P04637	p.Thr329ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7673536_7673542TGAAGGG>-	NCI-TCGA
TP53	P04637	p.Thr329Ile	rs969930693	missense variant	-	NC_000017.11:g.7673542G>A	gnomAD
TP53	P04637	p.Thr329Ser	VAR_045526	Missense	-	-	UniProt
TP53	P04637	p.Leu330Arg	COSM1162647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673539A>C	NCI-TCGA Cosmic
TP53	P04637	p.Leu330PhePheSerTerUnkUnk	COSM1735380	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673540G>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu330Pro	VAR_047212	Missense	-	-	UniProt
TP53	P04637	p.Leu330His	VAR_045527	Missense	-	-	UniProt
TP53	P04637	p.Leu330Arg	VAR_045528	Missense	-	-	UniProt
TP53	P04637	p.Gln331Arg	RCV000479182	missense variant	-	NC_000017.11:g.7673536T>C	ClinVar
TP53	P04637	p.Gln331Ter	COSM11354	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673537G>A	NCI-TCGA Cosmic
TP53	P04637	p.Gln331His	COSM1646823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7673535C>G	NCI-TCGA Cosmic
TP53	P04637	p.Gln331SerPheSerTerUnk	COSM300447	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7673537_7673538insA	NCI-TCGA Cosmic
TP53	P04637	p.Gln331Arg	rs1064795056	missense variant	-	NC_000017.11:g.7673536T>C	-
TP53	P04637	p.Gln331Arg	rs1064795056	missense variant	-	NC_000017.11:g.7673536T>C	UniProt,dbSNP
TP53	P04637	p.Gln331Arg	VAR_045531	missense variant	-	NC_000017.11:g.7673536T>C	UniProt
TP53	P04637	p.Gln331His	rs11575996	missense variant	-	NC_000017.11:g.7673535C>A	-
TP53	P04637	p.Gln331Ter	RCV000540169	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673535_7673538del	ClinVar
TP53	P04637	p.Gln331Pro	VAR_045530	Missense	-	-	UniProt
TP53	P04637	p.Ile332Met	RCV000554410	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670713G>C	ClinVar
TP53	P04637	p.Ile332Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7670715T>A	NCI-TCGA
TP53	P04637	p.Ile332Ter	RCV000785530	frameshift	Ovarian Neoplasms	NC_000017.11:g.7670712_7670713del	ClinVar
TP53	P04637	p.Ile332Met	rs1555524470	missense variant	-	NC_000017.11:g.7670713G>C	-
TP53	P04637	p.Ile332Val	VAR_045532	Missense	-	-	UniProt
TP53	P04637	p.Arg333His	RCV000662455	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670711C>T	ClinVar
TP53	P04637	p.Arg333His	RCV000131296	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670711C>T	ClinVar
TP53	P04637	p.Arg333His	RCV000227465	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670711C>T	ClinVar
TP53	P04637	p.Arg333ValPheSerTerUnkUnk	COSM437469	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670712G>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg333His	RCV000213064	missense variant	-	NC_000017.11:g.7670711C>T	ClinVar
TP53	P04637	p.Arg333Cys	RCV000485066	missense variant	-	NC_000017.11:g.7670712G>A	ClinVar
TP53	P04637	p.Arg333Cys	RCV000197833	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670712G>A	ClinVar
TP53	P04637	p.Arg333Cys	RCV000164055	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670712G>A	ClinVar
TP53	P04637	p.Arg333His	rs573154688	missense variant	-	NC_000017.11:g.7670711C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg333Gly	rs769934890	missense variant	-	NC_000017.11:g.7670712G>C	ExAC,gnomAD
TP53	P04637	p.Arg333Cys	rs769934890	missense variant	-	NC_000017.11:g.7670712G>A	ExAC,gnomAD
TP53	P04637	p.Arg333Cys	RCV000780790	missense variant	-	NC_000017.11:g.7670712G>A	ClinVar
TP53	P04637	p.Gly334Arg	rs730882028	missense variant	-	NC_000017.11:g.7670709C>G	ExAC,TOPMed
TP53	P04637	p.Gly334Arg	RCV000588363	missense variant	-	NC_000017.11:g.7670709C>G	ClinVar
TP53	P04637	p.Gly334Val	COSM11514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7670708C>A	NCI-TCGA Cosmic
TP53	P04637	p.Gly334Arg	RCV000165615	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670709C>T	ClinVar
TP53	P04637	p.Gly334Trp	RCV000492343	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670709C>A	ClinVar
TP53	P04637	p.Gly334Arg	RCV000663214	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670709C>G	ClinVar
TP53	P04637	p.Gly334AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670699_7670708CGCTCACGCC>-	NCI-TCGA
TP53	P04637	p.Gly334Arg	RCV000468644	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670709C>G	ClinVar
TP53	P04637	p.Gly334Arg	RCV000161073	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670709C>G	ClinVar
TP53	P04637	p.Gly334Glu	rs1286563734	missense variant	-	NC_000017.11:g.7670708C>T	gnomAD
TP53	P04637	p.Gly334Trp	rs730882028	missense variant	-	NC_000017.11:g.7670709C>A	ExAC,TOPMed
TP53	P04637	p.Gly334Arg	rs730882028	missense variant	-	NC_000017.11:g.7670709C>T	ExAC,TOPMed
TP53	P04637	p.Gly334Val	VAR_006040	Missense	-	-	UniProt
TP53	P04637	p.Arg335Cys	RCV000538993	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670706G>A	ClinVar
TP53	P04637	p.Arg335His	RCV000563037	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670705C>T	ClinVar
TP53	P04637	p.Arg335LeuPheSerTerUnkUnk	COSM295248	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670705C>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg335GlnPheSerTerUnk	COSM288629	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670705_7670706insT	NCI-TCGA Cosmic
TP53	P04637	p.Arg335ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670707C>-	NCI-TCGA
TP53	P04637	p.Arg335His	RCV000803182	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670705C>T	ClinVar
TP53	P04637	p.Arg335His	rs771939956	missense variant	-	NC_000017.11:g.7670705C>T	ExAC,gnomAD
TP53	P04637	p.Arg335His	rs771939956	missense variant	-	NC_000017.11:g.7670705C>T	UniProt,dbSNP
TP53	P04637	p.Arg335His	VAR_045535	missense variant	-	NC_000017.11:g.7670705C>T	UniProt
TP53	P04637	p.Arg335Cys	rs375444154	missense variant	-	NC_000017.11:g.7670706G>A	ESP,TOPMed
TP53	P04637	p.Arg335Cys	RCV000129547	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670706G>A	ClinVar
TP53	P04637	p.Arg335Cys	RCV000213066	missense variant	-	NC_000017.11:g.7670706G>A	ClinVar
TP53	P04637	p.Arg335Leu	VAR_045536	Missense	-	-	UniProt
TP53	P04637	p.Arg335Gly	VAR_045534	Missense	-	-	UniProt
TP53	P04637	p.Glu336Ter	COSM11291	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670703C>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu336AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670701_7670702CT>-	NCI-TCGA
TP53	P04637	p.Glu336SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670704A>-	NCI-TCGA
TP53	P04637	p.Arg337His	rs121912664	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670699C>T	UniProt,dbSNP
TP53	P04637	p.Arg337His	VAR_035016	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670699C>T	UniProt
TP53	P04637	p.Arg337His	rs121912664	missense variant	-	NC_000017.11:g.7670699C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg337Leu	rs121912664	missense variant	-	NC_000017.11:g.7670699C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg337Pro	rs121912664	missense variant	-	NC_000017.11:g.7670699C>G	UniProt,dbSNP
TP53	P04637	p.Arg337Pro	VAR_045538	missense variant	-	NC_000017.11:g.7670699C>G	UniProt
TP53	P04637	p.Arg337Pro	rs121912664	missense variant	-	NC_000017.11:g.7670699C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg337His	RCV000576817	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337His	RCV000413754	missense variant	Neoplasm of the breast	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337His	RCV000197240	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337Gly	RCV000226515	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670700G>C	ClinVar
TP53	P04637	p.Arg337Leu	RCV000785297	missense variant	Ovarian Neoplasms	NC_000017.11:g.7670699C>A	ClinVar
TP53	P04637	p.Arg337Pro	RCV000154527	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670699C>G	ClinVar
TP53	P04637	p.Arg337His	RCV000013178	missense variant	Adrenocortical carcinoma, pediatric	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337His	RCV000481814	missense variant	-	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337His	RCV000128923	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337Leu	RCV000132259	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670699C>A	ClinVar
TP53	P04637	p.Arg337Ser	COSM1563605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7670700G>T	NCI-TCGA Cosmic
TP53	P04637	p.Arg337Cys	RCV000785479	missense variant	Ovarian Neoplasms	NC_000017.11:g.7670700G>A	ClinVar
TP53	P04637	p.Arg337Gly	rs587782529	missense variant	-	NC_000017.11:g.7670700G>C	ExAC,gnomAD
TP53	P04637	p.Arg337Cys	rs587782529	missense variant	-	NC_000017.11:g.7670700G>A	ExAC,gnomAD
TP53	P04637	p.Arg337Cys	rs587782529	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670700G>A	UniProt,dbSNP
TP53	P04637	p.Arg337Cys	VAR_006041	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670700G>A	UniProt
TP53	P04637	p.Arg337Leu	rs121912664	missense variant	-	NC_000017.11:g.7670699C>A	UniProt,dbSNP
TP53	P04637	p.Arg337Leu	VAR_045537	missense variant	-	NC_000017.11:g.7670699C>A	UniProt
TP53	P04637	p.Arg337Ter	RCV000492353	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670698_7670699GC[1]	ClinVar
TP53	P04637	p.Phe338Ser	RCV000478445	missense variant	-	NC_000017.11:g.7670696A>G	ClinVar
TP53	P04637	p.Phe338Leu	RCV000576115	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670695G>C	ClinVar
TP53	P04637	p.Phe338Ile	COSM45767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7670697A>T	NCI-TCGA Cosmic
TP53	P04637	p.Phe338LeuPheSerTerUnk	COSM235693	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670695G>-	NCI-TCGA Cosmic
TP53	P04637	p.Phe338SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670697_7670698insGCGCT	NCI-TCGA
TP53	P04637	p.Phe338Ser	rs1064796401	missense variant	-	NC_000017.11:g.7670696A>G	-
TP53	P04637	p.Phe338Leu	rs150293825	missense variant	-	NC_000017.11:g.7670695G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Phe338Leu	rs150293825	missense variant	-	NC_000017.11:g.7670695G>C	UniProt,dbSNP
TP53	P04637	p.Phe338Leu	VAR_045540	missense variant	-	NC_000017.11:g.7670695G>C	UniProt
TP53	P04637	p.Phe338Cys	RCV000772899	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670696A>C	ClinVar
TP53	P04637	p.Phe338Ile	VAR_045539	Missense	-	-	UniProt
TP53	P04637	p.Glu339Lys	rs17882252	missense variant	-	NC_000017.11:g.7670694C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu339ArgPheSerTerUnk	COSM5230441	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670694C>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu339Ter	RCV000689964	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670694C>A	ClinVar
TP53	P04637	p.Glu339AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670693_7670694insCGAAG	NCI-TCGA
TP53	P04637	p.Glu339Gln	RCV000697643	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670694C>G	ClinVar
TP53	P04637	p.Glu339Gln	RCV000213068	missense variant	-	NC_000017.11:g.7670694C>G	ClinVar
TP53	P04637	p.Glu339Ter	RCV000505616	nonsense	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670694C>A	ClinVar
TP53	P04637	p.Glu339Gln	rs17882252	missense variant	-	NC_000017.11:g.7670694C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu339Val	rs1237829645	missense variant	-	NC_000017.11:g.7670693T>A	gnomAD
TP53	P04637	p.Glu339Ter	rs17882252	stop gained	-	NC_000017.11:g.7670694C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu339Ter	RCV000785266	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670694_7670695insA	ClinVar
TP53	P04637	p.Glu339Gln	RCV000130594	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670694C>G	ClinVar
TP53	P04637	p.Glu339Lys	RCV000254694	missense variant	-	NC_000017.11:g.7670694C>T	ClinVar
TP53	P04637	p.Met340SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670690_7670691insTCAC	NCI-TCGA
TP53	P04637	p.Met340Ile	rs1463722976	missense variant	-	NC_000017.11:g.7670689C>A	TOPMed
TP53	P04637	p.Met340Ter	RCV000492284	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670691del	ClinVar
TP53	P04637	p.Phe341LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670686_7670687insT	NCI-TCGA
TP53	P04637	p.Phe341Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7670686G>C	NCI-TCGA
TP53	P04637	p.Phe341Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7670688A>C	NCI-TCGA
TP53	P04637	p.Phe341GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670688_7670689insCTTC	NCI-TCGA
TP53	P04637	p.Phe341Cys	VAR_045542	Missense	-	-	UniProt
TP53	P04637	p.Arg342Gln	rs375338359	missense variant	-	NC_000017.11:g.7670684C>T	ESP,ExAC,gnomAD
TP53	P04637	p.Arg342Ter	rs730882029	stop gained	-	NC_000017.11:g.7670685G>A	-
TP53	P04637	p.Arg342Gln	RCV000213668	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670684C>T	ClinVar
TP53	P04637	p.Arg342Ter	RCV000492610	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670686del	ClinVar
TP53	P04637	p.Arg342Ter	RCV000213069	nonsense	-	NC_000017.11:g.7670685G>A	ClinVar
TP53	P04637	p.Arg342Ter	RCV000161074	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670685G>A	ClinVar
TP53	P04637	p.Arg342GluPheSerTerUnk	COSM128665	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670685G>-	NCI-TCGA Cosmic
TP53	P04637	p.Arg342Gln	RCV000478259	missense variant	-	NC_000017.11:g.7670684C>T	ClinVar
TP53	P04637	p.Arg342Gln	RCV000688863	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670684C>T	ClinVar
TP53	P04637	p.Arg342Ter	RCV000785461	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670676_7670683del	ClinVar
TP53	P04637	p.Arg342Ter	RCV000785301	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670685G>A	ClinVar
TP53	P04637	p.Arg342GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670678_7670685AGCTCTCG>-	NCI-TCGA
TP53	P04637	p.Arg342Pro	rs375338359	missense variant	-	NC_000017.11:g.7670684C>G	ESP,ExAC,gnomAD
TP53	P04637	p.Arg342Ter	RCV000549233	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670685G>A	ClinVar
TP53	P04637	p.Arg342Pro	RCV000198319	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670684C>G	ClinVar
TP53	P04637	p.Arg342Ter	RCV000785302	frameshift	Ovarian Neoplasms	NC_000017.11:g.7670686del	ClinVar
TP53	P04637	p.Arg342Leu	VAR_045543	Missense	-	-	UniProt
TP53	P04637	p.Glu343AlaPheSerTerUnk	COSM5752325	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670680_7670681CT>-	NCI-TCGA Cosmic
TP53	P04637	p.Glu343Ter	COSM11078	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670682C>A	NCI-TCGA Cosmic
TP53	P04637	p.Glu343Gln	rs375573770	missense variant	-	NC_000017.11:g.7670682C>G	ESP
TP53	P04637	p.Glu343Gly	VAR_045545	Missense	-	-	UniProt
TP53	P04637	p.Leu344Pro	RCV000013174	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670678A>G	ClinVar
TP53	P04637	p.Leu344Pro	rs121912662	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7670678A>G	-
TP53	P04637	p.Leu344Pro	rs121912662	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670678A>G	UniProt,dbSNP
TP53	P04637	p.Leu344Pro	VAR_045546	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670678A>G	UniProt
TP53	P04637	p.Leu344Arg	VAR_045547	Missense	-	-	UniProt
TP53	P04637	p.Asn345Asp	COSM4070032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7670676T>C	NCI-TCGA Cosmic
TP53	P04637	p.Asn345MetPheSerTerUnkUnk	COSM69016	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670677C>-	NCI-TCGA Cosmic
TP53	P04637	p.Asn345SerPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.7670675_7670676insTCAGC	NCI-TCGA
TP53	P04637	p.Glu346Asp	RCV000562934	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670671C>G	ClinVar
TP53	P04637	p.Glu346Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670673_7670674insA	NCI-TCGA
TP53	P04637	p.Glu346Ter	RCV000785295	frameshift	Ovarian Neoplasms	NC_000017.11:g.7670673del	ClinVar
TP53	P04637	p.Glu346Ter	RCV000785313	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670673C>A	ClinVar
TP53	P04637	p.Glu346Ala	VAR_045548	Missense	-	-	UniProt
TP53	P04637	p.Ala347Val	RCV000484420	missense variant	-	NC_000017.11:g.7670669G>A	ClinVar
TP53	P04637	p.Ala347Val	RCV000567572	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670669G>A	ClinVar
TP53	P04637	p.Ala347Asp	RCV000255021	missense variant	-	NC_000017.11:g.7670669G>T	ClinVar
TP53	P04637	p.Ala347Gly	VAR_045549	Missense	-	-	UniProt
TP53	P04637	p.Ala347Thr	VAR_045550	Missense	-	-	UniProt
TP53	P04637	p.Leu348Val	rs1060501193	missense variant	-	NC_000017.11:g.7670667A>C	-
TP53	P04637	p.Leu348Val	RCV000473178	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670667A>C	ClinVar
TP53	P04637	p.Leu348Phe	COSM46348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7670665C>A	NCI-TCGA Cosmic
TP53	P04637	p.Leu348Ter	COSM69193	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670666_7670667insAGGCCTT	NCI-TCGA Cosmic
TP53	P04637	p.Leu348TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670666A>-	NCI-TCGA
TP53	P04637	p.Leu348Ter	RCV000699234	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670658_7670666delinsC	ClinVar
TP53	P04637	p.Leu348Phe	VAR_045551	Missense	-	-	UniProt
TP53	P04637	p.Leu348Ser	VAR_045552	Missense	-	-	UniProt
TP53	P04637	p.Glu349Ter	RCV000785303	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670664C>A	ClinVar
TP53	P04637	p.Glu349Ter	RCV000424672	frameshift	-	NC_000017.11:g.7670658_7670665del	ClinVar
TP53	P04637	p.Glu349Asp	VAR_045553	Missense	-	-	UniProt
TP53	P04637	p.Leu350Ter	RCV000492513	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670660_7670661del	ClinVar
TP53	P04637	p.Leu350Phe	RCV000562474	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670661G>A	ClinVar
TP53	P04637	p.Leu350GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670657_7670661TTGAG>-	NCI-TCGA
TP53	P04637	p.Leu350ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7670651_7670660GCATCCTTGA>-	NCI-TCGA
TP53	P04637	p.Leu350Phe	rs768046010	missense variant	-	NC_000017.11:g.7670661G>A	ExAC,gnomAD
TP53	P04637	p.Leu350Val	rs768046010	missense variant	-	NC_000017.11:g.7670661G>C	ExAC,gnomAD
TP53	P04637	p.Lys351Glu	RCV000131779	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670658T>C	ClinVar
TP53	P04637	p.Lys351Ter	COSM1522202	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7670658T>A	NCI-TCGA Cosmic
TP53	P04637	p.Lys351Arg	RCV000552899	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670657T>C	ClinVar
TP53	P04637	p.Lys351Glu	rs141402957	missense variant	-	NC_000017.11:g.7670658T>C	-
TP53	P04637	p.Lys351Arg	rs1555524396	missense variant	-	NC_000017.11:g.7670657T>C	-
TP53	P04637	p.Asp352Tyr	rs1555524394	missense variant	-	NC_000017.11:g.7670655C>A	-
TP53	P04637	p.Asp352Tyr	RCV000574074	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670655C>A	ClinVar
TP53	P04637	p.Asp352His	VAR_045554	Missense	-	-	UniProt
TP53	P04637	p.Ala353Thr	VAR_045555	Missense	-	-	UniProt
TP53	P04637	p.Gln354Lys	rs755394212	missense variant	-	NC_000017.11:g.7670649G>T	UniProt,dbSNP
TP53	P04637	p.Gln354Lys	VAR_045557	missense variant	-	NC_000017.11:g.7670649G>T	UniProt
TP53	P04637	p.Gln354Lys	RCV000663226	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670649G>T	ClinVar
TP53	P04637	p.Gln354Lys	RCV000626710	missense variant	Neoplasm of the colon	NC_000017.11:g.7670649G>T	ClinVar
TP53	P04637	p.Gln354Lys	RCV000222255	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670649G>T	ClinVar
TP53	P04637	p.Gln354Lys	RCV000469791	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670649G>T	ClinVar
TP53	P04637	p.Gln354Ter	RCV000531178	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670649G>A	ClinVar
TP53	P04637	p.Gln354Lys	rs755394212	missense variant	-	NC_000017.11:g.7670649G>T	ExAC,gnomAD
TP53	P04637	p.Gln354Arg	rs752142489	missense variant	-	NC_000017.11:g.7670648T>C	ExAC,gnomAD
TP53	P04637	p.Gln354Ter	rs755394212	stop gained	-	NC_000017.11:g.7670649G>A	ExAC,gnomAD
TP53	P04637	p.Gln354Arg	RCV000774782	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670648T>C	ClinVar
TP53	P04637	p.Gln354Glu	VAR_045556	Missense	-	-	UniProt
TP53	P04637	p.Ala355Thr	rs1157427821	missense variant	-	NC_000017.11:g.7670646C>T	gnomAD
TP53	P04637	p.Ala355Val	RCV000633335	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670645G>A	ClinVar
TP53	P04637	p.Ala355Val	rs1555524382	missense variant	-	NC_000017.11:g.7670645G>A	-
TP53	P04637	p.Gly356Arg	RCV000781911	missense variant	-	NC_000017.11:g.7670643C>G	ClinVar
TP53	P04637	p.Gly356Arg	RCV000213405	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670643C>G	ClinVar
TP53	P04637	p.Gly356Arg	RCV000471717	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670643C>G	ClinVar
TP53	P04637	p.Gly356Arg	rs766786605	missense variant	-	NC_000017.11:g.7670643C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly356Arg	rs766786605	missense variant	-	NC_000017.11:g.7670643C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly356Arg	RCV000481680	missense variant	-	NC_000017.11:g.7670643C>G	ClinVar
TP53	P04637	p.Gly356Ala	VAR_045558	Missense	-	-	UniProt
TP53	P04637	p.Gly356Trp	VAR_045559	Missense	-	-	UniProt
TP53	P04637	p.Lys357Glu	RCV000709400	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670640T>C	ClinVar
TP53	P04637	p.Lys357Arg	rs763426446	missense variant	-	NC_000017.11:g.7670639T>C	ExAC,gnomAD
TP53	P04637	p.Glu358Val	RCV000249541	missense variant	-	NC_000017.11:g.7670636T>A	ClinVar
TP53	P04637	p.Glu358Lys	rs587782237	missense variant	-	NC_000017.11:g.7670637C>T	-
TP53	P04637	p.Glu358Lys	rs587782237	missense variant	-	NC_000017.11:g.7670637C>T	UniProt,dbSNP
TP53	P04637	p.Glu358Lys	VAR_045561	missense variant	-	NC_000017.11:g.7670637C>T	UniProt
TP53	P04637	p.Glu358Val	rs773553186	missense variant	-	NC_000017.11:g.7670636T>A	ExAC,gnomAD
TP53	P04637	p.Glu358Lys	RCV000130938	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670637C>T	ClinVar
TP53	P04637	p.Glu358Asp	VAR_045560	Missense	-	-	UniProt
TP53	P04637	p.Pro359Leu	rs1483922249	missense variant	-	NC_000017.11:g.7670633G>A	gnomAD
TP53	P04637	p.Gly360Val	rs35993958	missense variant	-	NC_000017.11:g.7670630C>A	UniProt,dbSNP
TP53	P04637	p.Gly360Val	VAR_045563	missense variant	-	NC_000017.11:g.7670630C>A	UniProt
TP53	P04637	p.Gly360Val	rs35993958	missense variant	-	NC_000017.11:g.7670630C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly360Arg	rs786203298	missense variant	-	NC_000017.11:g.7670631C>T	TOPMed,gnomAD
TP53	P04637	p.Gly360Glu	rs35993958	missense variant	-	NC_000017.11:g.7670630C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly360Ala	rs35993958	missense variant	-	NC_000017.11:g.7670630C>G	UniProt,dbSNP
TP53	P04637	p.Gly360Ala	VAR_045562	missense variant	-	NC_000017.11:g.7670630C>G	UniProt
TP53	P04637	p.Gly360Val	RCV000195550	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670630C>A	ClinVar
TP53	P04637	p.Gly360Ala	RCV000130776	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670630C>G	ClinVar
TP53	P04637	p.Gly360Glu	RCV000541338	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670630C>T	ClinVar
TP53	P04637	p.Gly360Ala	RCV000254695	missense variant	-	NC_000017.11:g.7670630C>G	ClinVar
TP53	P04637	p.Gly360Ala	rs35993958	missense variant	-	NC_000017.11:g.7670630C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly360Trp	rs786203298	missense variant	-	NC_000017.11:g.7670631C>A	TOPMed,gnomAD
TP53	P04637	p.Gly360Glu	RCV000213880	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670630C>T	ClinVar
TP53	P04637	p.Gly360Arg	RCV000166545	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670631C>T	ClinVar
TP53	P04637	p.Gly360Trp	RCV000569528	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670631C>A	ClinVar
TP53	P04637	p.Gly361Arg	RCV000633398	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670628C>G	ClinVar
TP53	P04637	p.Gly361Glu	rs587781663	missense variant	-	NC_000017.11:g.7670627C>T	TOPMed
TP53	P04637	p.Gly361Arg	rs1555524361	missense variant	-	NC_000017.11:g.7670628C>G	-
TP53	P04637	p.Gly361Glu	RCV000129812	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670627C>T	ClinVar
TP53	P04637	p.Gly361Glu	RCV000581885	missense variant	-	NC_000017.11:g.7670627C>T	ClinVar
TP53	P04637	p.Gly361Arg	RCV000571168	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670628C>G	ClinVar
TP53	P04637	p.Ser362Ile	rs768803947	missense variant	-	NC_000017.11:g.7670624C>A	ExAC,gnomAD
TP53	P04637	p.Ser362Cys	RCV000552096	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670625T>A	ClinVar
TP53	P04637	p.Ser362Ile	RCV000572520	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670624C>A	ClinVar
TP53	P04637	p.Ser362Asn	RCV000530397	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670624C>T	ClinVar
TP53	P04637	p.Ser362Ter	RCV000677306	frameshift	Diamond-Blackfan anemia (DBA)	NC_000017.11:g.7670632del	ClinVar
TP53	P04637	p.Ser362Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7670624C>G	NCI-TCGA
TP53	P04637	p.Ser362Ter	RCV000714961	frameshift	BONE MARROW FAILURE SYNDROME 5 (BMFS5)	NC_000017.11:g.7670631del	ClinVar
TP53	P04637	p.Ser362Cys	rs1287887419	missense variant	-	NC_000017.11:g.7670625T>A	gnomAD
TP53	P04637	p.Ser362Asn	rs768803947	missense variant	-	NC_000017.11:g.7670624C>T	ExAC,gnomAD
TP53	P04637	p.Ser362Ter	RCV000677307	frameshift	Diamond-Blackfan anemia (DBA)	NC_000017.11:g.7670631del	ClinVar
TP53	P04637	p.Ser362Ter	RCV000714962	frameshift	BONE MARROW FAILURE SYNDROME 5 (BMFS5)	NC_000017.11:g.7670632del	ClinVar
TP53	P04637	p.Arg363Lys	rs876660285	missense variant	-	NC_000017.11:g.7670621C>T	-
TP53	P04637	p.Arg363Lys	rs876660285	missense variant	-	NC_000017.11:g.7670621C>T	UniProt,dbSNP
TP53	P04637	p.Arg363Lys	VAR_045564	missense variant	-	NC_000017.11:g.7670621C>T	UniProt
TP53	P04637	p.Arg363Gly	RCV000483595	missense variant	-	NC_000017.11:g.7670622T>C	ClinVar
TP53	P04637	p.Arg363Gly	rs745751553	missense variant	-	NC_000017.11:g.7670622T>C	ExAC,gnomAD
TP53	P04637	p.Arg363Gly	RCV000168038	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670622T>C	ClinVar
TP53	P04637	p.Arg363Lys	RCV000223158	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670621C>T	ClinVar
TP53	P04637	p.Arg363Lys	RCV000419155	missense variant	-	NC_000017.11:g.7670621C>T	ClinVar
TP53	P04637	p.Ala364Val	RCV000689466	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670618G>A	ClinVar
TP53	P04637	p.Ala364Thr	VAR_045566	Missense	-	-	UniProt
TP53	P04637	p.Ala364Pro	VAR_045565	Missense	-	-	UniProt
TP53	P04637	p.Ala364Val	VAR_045567	Missense	-	-	UniProt
TP53	P04637	p.His365Tyr	RCV000129635	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670616G>A	ClinVar
TP53	P04637	p.His365Tyr	RCV000701624	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670616G>A	ClinVar
TP53	P04637	p.His365Tyr	rs267605075	missense variant	-	NC_000017.11:g.7670616G>A	ExAC,gnomAD
TP53	P04637	p.His365Arg	VAR_047215	Missense	-	-	UniProt
TP53	P04637	p.Ser366Ala	RCV000122179	missense variant	-	NC_000017.11:g.7670613A>C	ClinVar
TP53	P04637	p.Ser366Pro	rs17881470	missense variant	-	NC_000017.11:g.7670613A>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ser366Ala	rs17881470	missense variant	-	NC_000017.11:g.7670613A>C	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ser366Ala	RCV000197399	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670613A>C	ClinVar
TP53	P04637	p.Ser366Ala	RCV000588647	missense variant	-	NC_000017.11:g.7670613A>C	ClinVar
TP53	P04637	p.Ser366Pro	RCV000633357	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670613A>G	ClinVar
TP53	P04637	p.Ser367Gly	RCV000218678	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670610T>C	ClinVar
TP53	P04637	p.Ser367Asn	rs749150541	missense variant	-	NC_000017.11:g.7670609C>T	ExAC,gnomAD
TP53	P04637	p.Ser367Gly	rs876659459	missense variant	-	NC_000017.11:g.7670610T>C	-
TP53	P04637	p.His368Gln	RCV000798387	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669687G>C	ClinVar
TP53	P04637	p.His368Gln	RCV000575539	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669687G>C	ClinVar
TP53	P04637	p.His368Tyr	rs786204227	missense variant	-	NC_000017.11:g.7669689G>A	-
TP53	P04637	p.His368Gln	rs1289241865	missense variant	-	NC_000017.11:g.7669687G>T	gnomAD
TP53	P04637	p.His368Gln	rs1289241865	missense variant	-	NC_000017.11:g.7669687G>C	gnomAD
TP53	P04637	p.His368Tyr	RCV000222357	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669689G>A	ClinVar
TP53	P04637	p.His368Tyr	RCV000168367	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669689G>A	ClinVar
TP53	P04637	p.Lys370Gln	VAR_045569	Missense	-	-	UniProt
TP53	P04637	p.Lys372Thr	rs876658876	missense variant	-	NC_000017.11:g.7669676T>G	-
TP53	P04637	p.Lys372Thr	RCV000507724	missense variant	-	NC_000017.11:g.7669676T>G	ClinVar
TP53	P04637	p.Lys372Arg	rs876658876	missense variant	-	NC_000017.11:g.7669676T>C	-
TP53	P04637	p.Lys372Arg	RCV000217059	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669676T>C	ClinVar
TP53	P04637	p.Lys373ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7669673T>-	NCI-TCGA
TP53	P04637	p.Lys373Arg	RCV000771476	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669673T>C	ClinVar
TP53	P04637	p.Lys373Arg	RCV000700219	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669673T>C	ClinVar
TP53	P04637	p.Gly374Ser	rs587781858	missense variant	-	NC_000017.11:g.7669671C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly374Arg	RCV000217404	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669671C>G	ClinVar
TP53	P04637	p.Gly374Arg	rs587781858	missense variant	-	NC_000017.11:g.7669671C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly374Ter	RCV000233345	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669672del	ClinVar
TP53	P04637	p.Gly374Ser	RCV000130166	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669671C>T	ClinVar
TP53	P04637	p.Gly374Cys	rs587781858	missense variant	-	NC_000017.11:g.7669671C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln375Ter	RCV000161058	frameshift	-	NC_000017.11:g.7669666del	ClinVar
TP53	P04637	p.Gln375Lys	COSM3403253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7669668G>T	NCI-TCGA Cosmic
TP53	P04637	p.Gln375Ter	RCV000563669	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669668G>A	ClinVar
TP53	P04637	p.Gln375Ter	rs1555524156	stop gained	-	NC_000017.11:g.7669668G>A	-
TP53	P04637	p.Gln375Ter	RCV000702325	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669668G>A	ClinVar
TP53	P04637	p.Ser376Cys	COSM4820570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.7669664G>C	NCI-TCGA Cosmic
TP53	P04637	p.Ser376Phe	RCV000584249	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669664G>A	ClinVar
TP53	P04637	p.Ser376Phe	rs1555524151	missense variant	-	NC_000017.11:g.7669664G>A	-
TP53	P04637	p.Ser376Thr	VAR_045571	Missense	-	-	UniProt
TP53	P04637	p.Ser376Ala	VAR_045570	Missense	-	-	UniProt
TP53	P04637	p.Thr377ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7669659_7669662AGGT>-	NCI-TCGA
TP53	P04637	p.Thr377Pro	rs774269719	missense variant	-	NC_000017.11:g.7669662T>G	ExAC,gnomAD
TP53	P04637	p.Thr377Ser	rs774269719	missense variant	-	NC_000017.11:g.7669662T>A	ExAC,gnomAD
TP53	P04637	p.Ser378Cys	rs1555524130	missense variant	-	NC_000017.11:g.7669658G>C	-
TP53	P04637	p.Ser378Pro	rs80184930	missense variant	-	NC_000017.11:g.7669659A>G	ExAC,gnomAD
TP53	P04637	p.Ser378Cys	RCV000562179	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669658G>C	ClinVar
TP53	P04637	p.Arg379Ser	RCV000795303	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669656G>T	ClinVar
TP53	P04637	p.Arg379Ser	RCV000412389	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7669656G>T	ClinVar
TP53	P04637	p.Arg379Ser	RCV000236607	missense variant	-	NC_000017.11:g.7669656G>T	ClinVar
TP53	P04637	p.Arg379Ser	RCV000166408	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669656G>T	ClinVar
TP53	P04637	p.Arg379His	RCV000581851	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669655C>T	ClinVar
TP53	P04637	p.Arg379Ser	rs749061599	missense variant	-	NC_000017.11:g.7669656G>T	ExAC,gnomAD
TP53	P04637	p.Arg379Cys	RCV000166233	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669656G>A	ClinVar
TP53	P04637	p.Arg379His	RCV000696782	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669655C>T	ClinVar
TP53	P04637	p.Arg379Leu	RCV000219990	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669655C>A	ClinVar
TP53	P04637	p.Arg379His	RCV000235637	missense variant	-	NC_000017.11:g.7669655C>T	ClinVar
TP53	P04637	p.Arg379Leu	rs863224682	missense variant	-	NC_000017.11:g.7669655C>A	TOPMed,gnomAD
TP53	P04637	p.Arg379His	rs863224682	missense variant	-	NC_000017.11:g.7669655C>T	UniProt,dbSNP
TP53	P04637	p.Arg379His	VAR_045572	missense variant	-	NC_000017.11:g.7669655C>T	UniProt
TP53	P04637	p.Arg379His	rs863224682	missense variant	-	NC_000017.11:g.7669655C>T	TOPMed,gnomAD
TP53	P04637	p.Arg379Cys	rs749061599	missense variant	-	NC_000017.11:g.7669656G>A	ExAC,gnomAD
TP53	P04637	p.Arg379Cys	RCV000559034	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669656G>A	ClinVar
TP53	P04637	p.Arg379Leu	RCV000590314	missense variant	-	NC_000017.11:g.7669655C>A	ClinVar
TP53	P04637	p.Arg379His	RCV000410457	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7669655C>T	ClinVar
TP53	P04637	p.Arg379Leu	RCV000199273	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669655C>A	ClinVar
TP53	P04637	p.His380Ter	RCV000492580	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669652del	ClinVar
TP53	P04637	p.His380Ter	RCV000537354	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669651del	ClinVar
TP53	P04637	p.Lys381Ter	RCV000759367	nonsense	-	NC_000017.11:g.7669651dup	ClinVar
TP53	P04637	p.Lys382AsnPheSerTerUnkUnk	COSM13747	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.7669645T>-	NCI-TCGA Cosmic
TP53	P04637	p.Leu383Phe	RCV000759368	missense variant	-	NC_000017.11:g.7669644G>A	ClinVar
TP53	P04637	p.Leu383CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7669641_7669644TGAG>-	NCI-TCGA
TP53	P04637	p.Leu383Phe	rs150842067	missense variant	-	NC_000017.11:g.7669644G>A	-
TP53	P04637	p.Met384Thr	rs1060501196	missense variant	-	NC_000017.11:g.7669640A>G	gnomAD
TP53	P04637	p.Met384Arg	rs1060501196	missense variant	-	NC_000017.11:g.7669640A>C	gnomAD
TP53	P04637	p.Met384Ter	RCV000484106	frameshift	-	NC_000017.11:g.7669638_7669640delinsC	ClinVar
TP53	P04637	p.Met384Thr	RCV000662831	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7669640A>G	ClinVar
TP53	P04637	p.Met384Arg	RCV000548129	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669640A>C	ClinVar
TP53	P04637	p.Met384Val	RCV000161040	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669641T>C	ClinVar
TP53	P04637	p.Met384Val	RCV000587685	missense variant	-	NC_000017.11:g.7669641T>C	ClinVar
TP53	P04637	p.Met384Val	rs730882009	missense variant	-	NC_000017.11:g.7669641T>C	TOPMed
TP53	P04637	p.Met384Val	RCV000213071	missense variant	-	NC_000017.11:g.7669641T>C	ClinVar
TP53	P04637	p.Met384Val	RCV000195684	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669641T>C	ClinVar
TP53	P04637	p.Met384Thr	RCV000566404	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669640A>G	ClinVar
TP53	P04637	p.Met384Thr	RCV000462881	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669640A>G	ClinVar
TP53	P04637	p.Phe385Leu	RCV000561658	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669638A>G	ClinVar
TP53	P04637	p.Phe385Leu	rs1555524094	missense variant	-	NC_000017.11:g.7669638A>G	UniProt,dbSNP
TP53	P04637	p.Phe385Leu	VAR_045573	missense variant	-	NC_000017.11:g.7669638A>G	UniProt
TP53	P04637	p.Phe385Leu	rs1555524094	missense variant	-	NC_000017.11:g.7669638A>G	-
TP53	P04637	p.Thr387Arg	rs927888647	missense variant	-	NC_000017.11:g.7669631G>C	TOPMed,gnomAD
TP53	P04637	p.Thr387Arg	RCV000569933	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669631G>C	ClinVar
TP53	P04637	p.Glu388Ala	RCV000226900	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669628T>G	ClinVar
TP53	P04637	p.Glu388Ala	rs587781736	missense variant	-	NC_000017.11:g.7669628T>G	-
TP53	P04637	p.Glu388Ala	RCV000129934	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669628T>G	ClinVar
TP53	P04637	p.Glu388Ala	RCV000236435	missense variant	-	NC_000017.11:g.7669628T>G	ClinVar
TP53	P04637	p.Gly389Trp	RCV000144667	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7669626C>A	ClinVar
TP53	P04637	p.Gly389Arg	RCV000558251	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669626C>T	ClinVar
TP53	P04637	p.Gly389Arg	rs587783064	missense variant	-	NC_000017.11:g.7669626C>T	gnomAD
TP53	P04637	p.Gly389Trp	rs587783064	missense variant	-	NC_000017.11:g.7669626C>A	gnomAD
TP53	P04637	p.Gly389Trp	rs587783064	missense variant	-	NC_000017.11:g.7669626C>A	UniProt,dbSNP
TP53	P04637	p.Gly389Trp	VAR_045574	missense variant	-	NC_000017.11:g.7669626C>A	UniProt
TP53	P04637	p.Pro390His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.7669622G>T	NCI-TCGA
TP53	P04637	p.Asp391ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7669621A>-	NCI-TCGA
TP53	P04637	p.Asp391Glu	RCV000773751	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669618G>C	ClinVar
TP53	P04637	p.Ser392Ter	rs769664911	stop gained	-	NC_000017.11:g.7669616G>T	ExAC,gnomAD
TP53	P04637	p.Ser392Thr	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7669610_7669617CAGTCTGA>-	NCI-TCGA
TP53	P04637	p.Ser392Leu	VAR_045575	Missense	-	-	UniProt
TP53	P04637	p.Asp393Asn	rs1192921623	missense variant	-	NC_000017.11:g.7669614C>T	TOPMed,gnomAD
TP53	P04637	p.Asp393Asn	RCV000584379	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669614C>T	ClinVar
TP53	P04637	p.Asp393Ter	RCV000536567	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669614del	ClinVar
TP53	P04637	p.Asp393Tyr	rs1192921623	missense variant	-	NC_000017.11:g.7669614C>A	TOPMed,gnomAD
TP53	P04637	p.Ter394Cys	rs1555524074	stop lost	-	NC_000017.11:g.7669609T>A	-
TP53	P04637	p.Ter394Leu	RCV000492658	stop lost	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669612dup	ClinVar
TP53	P04637	p.Ter394Thr	NCI-TCGA novel	frameshift	-	NC_000017.11:g.7669610_7669611CA>-	NCI-TCGA
TP53	P04637	p.Ter394Gly	rs1555524079	stop lost	-	NC_000017.11:g.7669611A>C	-
TP53	P04637	p.Ter394Gly	RCV000573419	stop lost	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669611A>C	ClinVar
TP53	P04637	p.Ter394Cys	RCV000551312	stop lost	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669609T>A	ClinVar
TP53	P04637	p.Glu2Lys	RCV000695387	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676591C>T	ClinVar
TP53	P04637	p.Glu2Lys	rs769884991	missense variant	-	NC_000017.11:g.7676591C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu2Lys	RCV000579480	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676591C>T	ClinVar
TP53	P04637	p.Glu3Gly	rs786203938	missense variant	-	NC_000017.11:g.7676587T>C	-
TP53	P04637	p.Glu3Gly	RCV000534086	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676587T>C	ClinVar
TP53	P04637	p.Glu3Gly	RCV000167456	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676587T>C	ClinVar
TP53	P04637	p.Pro4Arg	rs878854064	missense variant	-	NC_000017.11:g.7676584G>C	-
TP53	P04637	p.Pro4Leu	RCV000662489	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Leu	RCV000571530	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Leu	RCV000780782	missense variant	-	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Leu	RCV000759369	missense variant	-	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Leu	RCV000229754	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676584G>A	ClinVar
TP53	P04637	p.Pro4Arg	RCV000475451	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676584G>C	ClinVar
TP53	P04637	p.Pro4Thr	rs1356004172	missense variant	-	NC_000017.11:g.7676585G>T	TOPMed
TP53	P04637	p.Pro4Leu	rs878854064	missense variant	-	NC_000017.11:g.7676584G>A	-
TP53	P04637	p.Gln5Arg	RCV000220312	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676581T>C	ClinVar
TP53	P04637	p.Gln5Arg	RCV000550564	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676581T>C	ClinVar
TP53	P04637	p.Gln5Arg	rs781595324	missense variant	-	NC_000017.11:g.7676581T>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln5His	VAR_044543	Missense	-	-	UniProt
TP53	P04637	p.Ser6Pro	rs1357147493	missense variant	-	NC_000017.11:g.7676579A>G	gnomAD
TP53	P04637	p.Ser6Leu	VAR_044544	Missense	-	-	UniProt
TP53	P04637	p.Asp7Glu	rs587781277	missense variant	-	NC_000017.11:g.7676574A>T	-
TP53	P04637	p.Asp7His	RCV000132048	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676576C>G	ClinVar
TP53	P04637	p.Asp7Glu	RCV000574520	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676574A>C	ClinVar
TP53	P04637	p.Asp7Glu	RCV000802467	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676574A>T	ClinVar
TP53	P04637	p.Asp7His	rs587782646	missense variant	-	NC_000017.11:g.7676576C>G	TOPMed,gnomAD
TP53	P04637	p.Asp7His	rs587782646	missense variant	-	NC_000017.11:g.7676576C>G	UniProt,dbSNP
TP53	P04637	p.Asp7His	VAR_005851	missense variant	-	NC_000017.11:g.7676576C>G	UniProt
TP53	P04637	p.Asp7Glu	rs587781277	missense variant	-	NC_000017.11:g.7676574A>C	-
TP53	P04637	p.Pro8Leu	rs876659415	missense variant	-	NC_000017.11:g.7676572G>A	TOPMed
TP53	P04637	p.Pro8Leu	RCV000221732	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676572G>A	ClinVar
TP53	P04637	p.Pro8Ser	VAR_044545	Missense	-	-	UniProt
TP53	P04637	p.Ser9Asn	rs1555527015	missense variant	-	NC_000017.11:g.7676569C>T	-
TP53	P04637	p.Ser9Arg	RCV000587100	missense variant	-	NC_000017.11:g.7676568G>C	ClinVar
TP53	P04637	p.Ser9Asn	RCV000534258	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676569C>T	ClinVar
TP53	P04637	p.Ser9Arg	rs757282628	missense variant	-	NC_000017.11:g.7676568G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Ser9Arg	rs1555527017	missense variant	-	NC_000017.11:g.7676570T>G	-
TP53	P04637	p.Ser9Arg	RCV000633332	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676570T>G	ClinVar
TP53	P04637	p.Val10Leu	rs535274413	missense variant	-	NC_000017.11:g.7676567C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Val10Ile	RCV000115717	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676567C>T	ClinVar
TP53	P04637	p.Val10Ile	rs535274413	missense variant	-	NC_000017.11:g.7676567C>T	UniProt,dbSNP
TP53	P04637	p.Val10Ile	VAR_044546	missense variant	-	NC_000017.11:g.7676567C>T	UniProt
TP53	P04637	p.Val10Leu	RCV000220427	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676567C>G	ClinVar
TP53	P04637	p.Val10Leu	RCV000791760	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676567C>G	ClinVar
TP53	P04637	p.Val10Gly	rs1418778734	missense variant	-	NC_000017.11:g.7676566A>C	gnomAD
TP53	P04637	p.Val10Ile	rs535274413	missense variant	-	NC_000017.11:g.7676567C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu11Lys	RCV000663228	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676564C>T	ClinVar
TP53	P04637	p.Glu11Lys	RCV000548671	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676564C>T	ClinVar
TP53	P04637	p.Glu11Lys	RCV000485338	missense variant	-	NC_000017.11:g.7676564C>T	ClinVar
TP53	P04637	p.Glu11Gln	RCV000161016	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676564C>G	ClinVar
TP53	P04637	p.Glu11Lys	rs201382018	missense variant	-	NC_000017.11:g.7676564C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu11Gln	rs201382018	missense variant	-	NC_000017.11:g.7676564C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro12Arg	rs1482497533	missense variant	-	NC_000017.11:g.7676560G>C	gnomAD
TP53	P04637	p.Pro12Leu	RCV000633363	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676560G>A	ClinVar
TP53	P04637	p.Pro12His	RCV000701186	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676560G>T	ClinVar
TP53	P04637	p.Pro12Leu	RCV000772527	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676560G>A	ClinVar
TP53	P04637	p.Pro12Leu	rs1482497533	missense variant	-	NC_000017.11:g.7676560G>A	gnomAD
TP53	P04637	p.Pro13Ser	rs1060501208	missense variant	-	NC_000017.11:g.7676558G>A	gnomAD
TP53	P04637	p.Pro13Ser	RCV000574176	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676558G>A	ClinVar
TP53	P04637	p.Pro13Ser	RCV000478642	missense variant	-	NC_000017.11:g.7676558G>A	ClinVar
TP53	P04637	p.Pro13Ser	RCV000468196	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676558G>A	ClinVar
TP53	P04637	p.Pro13Arg	RCV000571735	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676557G>C	ClinVar
TP53	P04637	p.Pro13Leu	RCV000226793	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676557G>A	ClinVar
TP53	P04637	p.Pro13Arg	rs878854070	missense variant	-	NC_000017.11:g.7676557G>C	TOPMed
TP53	P04637	p.Pro13Leu	rs878854070	missense variant	-	NC_000017.11:g.7676557G>A	TOPMed
TP53	P04637	p.Leu14Ter	RCV000576812	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676561dup	ClinVar
TP53	P04637	p.Leu14Val	RCV000699996	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676555G>C	ClinVar
TP53	P04637	p.Ser15Arg	VAR_044549	Missense	-	-	UniProt
TP53	P04637	p.Gln16Ter	RCV000633337	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676550del	ClinVar
TP53	P04637	p.Gln16Leu	VAR_044550	Missense	-	-	UniProt
TP53	P04637	p.Glu17Asp	VAR_044551	Missense	-	-	UniProt
TP53	P04637	p.Thr18Ter	RCV000213243	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676545del	ClinVar
TP53	P04637	p.Ser20Pro	RCV000219749	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676537A>G	ClinVar
TP53	P04637	p.Ser20Ter	RCV000492768	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676540del	ClinVar
TP53	P04637	p.Ser20Pro	rs876659913	missense variant	-	NC_000017.11:g.7676537A>G	-
TP53	P04637	p.Asp21Glu	rs1800369	missense variant	-	NC_000017.11:g.7676532G>C	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Lys24Asn	VAR_044552	Missense	-	-	UniProt
TP53	P04637	p.Leu26Ter	RCV000569180	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676398_7676401delinsACGTTCTT	ClinVar
TP53	P04637	p.Leu26Ter	RCV000036535	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676398_7676401delinsACGTTCTT	ClinVar
TP53	P04637	p.Pro27Ser	RCV000771430	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676399G>A	ClinVar
TP53	P04637	p.Pro27Thr	RCV000468603	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676399G>T	ClinVar
TP53	P04637	p.Pro27Leu	rs1555526933	missense variant	-	NC_000017.11:g.7676398G>A	-
TP53	P04637	p.Pro27Thr	rs922736614	missense variant	-	NC_000017.11:g.7676399G>T	gnomAD
TP53	P04637	p.Pro27Ser	rs922736614	missense variant	-	NC_000017.11:g.7676399G>A	gnomAD
TP53	P04637	p.Pro27Leu	RCV000572822	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676398G>A	ClinVar
TP53	P04637	p.Pro27Ser	RCV000633393	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676399G>A	ClinVar
TP53	P04637	p.Glu28Val	rs786202289	missense variant	-	NC_000017.11:g.7676395T>A	-
TP53	P04637	p.Glu28Val	RCV000165025	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676395T>A	ClinVar
TP53	P04637	p.Glu28Ala	VAR_044553	Missense	-	-	UniProt
TP53	P04637	p.Asn29Lys	rs1011445550	missense variant	-	NC_000017.11:g.7676391G>C	TOPMed
TP53	P04637	p.Asn29Ter	RCV000633338	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676395del	ClinVar
TP53	P04637	p.Asn29_Asn30delinsLysAsp	VAR_047158	deletion_insertion	-	-	UniProt
TP53	P04637	p.Val31Phe	rs201753350	missense variant	-	NC_000017.11:g.7676387C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Val31Ile	RCV000122173	missense variant	-	NC_000017.11:g.7676387C>T	ClinVar
TP53	P04637	p.Val31Ter	RCV000493979	frameshift	-	NC_000017.11:g.7676387_7676388insT	ClinVar
TP53	P04637	p.Val31Phe	RCV000222526	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676387C>A	ClinVar
TP53	P04637	p.Val31Ile	rs201753350	missense variant	-	NC_000017.11:g.7676387C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Val31Ile	rs201753350	missense variant	-	NC_000017.11:g.7676387C>T	UniProt,dbSNP
TP53	P04637	p.Val31Ile	VAR_044554	missense variant	-	NC_000017.11:g.7676387C>T	UniProt
TP53	P04637	p.Ser33Tyr	rs1555526832	missense variant	-	NC_000017.11:g.7676271G>T	-
TP53	P04637	p.Ser33Tyr	RCV000561224	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676271G>T	ClinVar
TP53	P04637	p.Ser33Ter	RCV000492612	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676272dup	ClinVar
TP53	P04637	p.Ser33Tyr	RCV000819381	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676271G>T	ClinVar
TP53	P04637	p.Ser33Thr	VAR_044555	Missense	-	-	UniProt
TP53	P04637	p.Pro34Ala	RCV000205889	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676269G>C	ClinVar
TP53	P04637	p.Pro34Arg	RCV000772948	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676268G>C	ClinVar
TP53	P04637	p.Pro34Thr	RCV000164526	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676269G>T	ClinVar
TP53	P04637	p.Pro34Ala	RCV000165887	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676269G>C	ClinVar
TP53	P04637	p.Pro34Thr	rs786201968	missense variant	-	NC_000017.11:g.7676269G>T	-
TP53	P04637	p.Pro34Ala	rs786201968	missense variant	-	NC_000017.11:g.7676269G>C	-
TP53	P04637	p.Pro34Arg	rs1322947350	missense variant	-	NC_000017.11:g.7676268G>C	gnomAD
TP53	P04637	p.Pro34Ala	RCV000483753	missense variant	-	NC_000017.11:g.7676269G>C	ClinVar
TP53	P04637	p.Pro34Leu	VAR_044556	Missense	-	-	UniProt
TP53	P04637	p.Leu35Phe	rs121912661	missense variant	-	NC_000017.11:g.7676264C>G	TOPMed,gnomAD
TP53	P04637	p.Leu35Met	RCV000572574	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676266A>T	ClinVar
TP53	P04637	p.Leu35Met	RCV000470404	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676266A>T	ClinVar
TP53	P04637	p.Leu35Phe	RCV000481187	missense variant	-	NC_000017.11:g.7676264C>G	ClinVar
TP53	P04637	p.Leu35Phe	RCV000633325	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676264C>G	ClinVar
TP53	P04637	p.Leu35Phe	RCV000013170	missense variant	Carcinoma of pancreas	NC_000017.11:g.7676264C>A	ClinVar
TP53	P04637	p.Leu35Phe	RCV000131759	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676264C>G	ClinVar
TP53	P04637	p.Leu35Phe	rs121912661	missense variant	-	NC_000017.11:g.7676264C>A	UniProt,dbSNP
TP53	P04637	p.Leu35Phe	VAR_005852	missense variant	-	NC_000017.11:g.7676264C>A	UniProt
TP53	P04637	p.Leu35Met	rs1060501211	missense variant	-	NC_000017.11:g.7676266A>T	-
TP53	P04637	p.Leu35Phe	rs121912661	missense variant	-	NC_000017.11:g.7676264C>A	TOPMed,gnomAD
TP53	P04637	p.Pro36Leu	rs587781866	missense variant	-	NC_000017.11:g.7676262G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro36Leu	rs587781866	missense variant	-	NC_000017.11:g.7676262G>A	UniProt,dbSNP
TP53	P04637	p.Pro36Leu	VAR_044557	missense variant	-	NC_000017.11:g.7676262G>A	UniProt
TP53	P04637	p.Pro36Gln	RCV000469733	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676262G>T	ClinVar
TP53	P04637	p.Pro36Ser	RCV000161017	missense variant	-	NC_000017.11:g.7676263G>A	ClinVar
TP53	P04637	p.Pro36Gln	RCV000662689	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676262G>T	ClinVar
TP53	P04637	p.Pro36Gln	RCV000130183	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676262G>T	ClinVar
TP53	P04637	p.Pro36Gln	RCV000213046	missense variant	-	NC_000017.11:g.7676262G>T	ClinVar
TP53	P04637	p.Pro36Ser	rs730881993	missense variant	-	NC_000017.11:g.7676263G>A	-
TP53	P04637	p.Pro36Gln	rs587781866	missense variant	-	NC_000017.11:g.7676262G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Ser37Phe	RCV000688189	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676259G>A	ClinVar
TP53	P04637	p.Ser37Thr	VAR_044559	Missense	-	-	UniProt
TP53	P04637	p.Ser37Pro	VAR_044558	Missense	-	-	UniProt
TP53	P04637	p.Gln38Ter	RCV000544374	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676259del	ClinVar
TP53	P04637	p.Ala39Val	RCV000690309	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676253G>A	ClinVar
TP53	P04637	p.Ala39Val	rs1353016807	missense variant	-	NC_000017.11:g.7676253G>A	UniProt,dbSNP
TP53	P04637	p.Ala39Val	VAR_044561	missense variant	-	NC_000017.11:g.7676253G>A	UniProt
TP53	P04637	p.Ala39Val	rs1353016807	missense variant	-	NC_000017.11:g.7676253G>A	TOPMed
TP53	P04637	p.Ala39Ter	RCV000582613	frameshift	-	NC_000017.11:g.7676252_7676253del	ClinVar
TP53	P04637	p.Ala39Pro	VAR_044560	Missense	-	-	UniProt
TP53	P04637	p.Met40Thr	rs587782877	missense variant	-	NC_000017.11:g.7676250A>G	-
TP53	P04637	p.Met40Thr	RCV000132511	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676250A>G	ClinVar
TP53	P04637	p.Asp41Asn	rs1555526789	missense variant	-	NC_000017.11:g.7676248C>T	-
TP53	P04637	p.Asp41Asn	RCV000562780	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676248C>T	ClinVar
TP53	P04637	p.Asp41Asn	RCV000822098	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676248C>T	ClinVar
TP53	P04637	p.Asp42Gly	rs587781767	missense variant	-	NC_000017.11:g.7676244T>C	-
TP53	P04637	p.Asp42GlyTer	RCV000566048	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676248_7676251dup	ClinVar
TP53	P04637	p.Asp42Gly	RCV000129995	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676244T>C	ClinVar
TP53	P04637	p.Asp42Asn	rs756847009	missense variant	-	NC_000017.11:g.7676245C>T	ExAC,gnomAD
TP53	P04637	p.Asp42Tyr	VAR_044562	Missense	-	-	UniProt
TP53	P04637	p.Leu43Ter	rs1555526777	stop gained	-	NC_000017.11:g.7676241A>T	-
TP53	P04637	p.Leu43Ter	RCV000521967	nonsense	-	NC_000017.11:g.7676241A>T	ClinVar
TP53	P04637	p.Leu43Phe	rs754332870	missense variant	-	NC_000017.11:g.7676240C>G	ExAC,gnomAD
TP53	P04637	p.Leu43Ser	VAR_005853	Missense	-	-	UniProt
TP53	P04637	p.Met44Ile	rs1060501190	missense variant	-	NC_000017.11:g.7676237C>T	-
TP53	P04637	p.Met44Ile	RCV000459820	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676237C>T	ClinVar
TP53	P04637	p.Met44Val	VAR_044565	Missense	-	-	UniProt
TP53	P04637	p.Met44Thr	VAR_044564	Missense	-	-	UniProt
TP53	P04637	p.Leu45Pro	rs879254066	missense variant	-	NC_000017.11:g.7676235A>G	-
TP53	P04637	p.Leu45Pro	RCV000235508	missense variant	-	NC_000017.11:g.7676235A>G	ClinVar
TP53	P04637	p.Leu45Met	VAR_044566	Missense	-	-	UniProt
TP53	P04637	p.Ser46Ter	RCV000132061	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676232delinsAC	ClinVar
TP53	P04637	p.Ser46Pro	RCV000218555	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676233A>G	ClinVar
TP53	P04637	p.Ser46Pro	rs876659630	missense variant	-	NC_000017.11:g.7676233A>G	UniProt,dbSNP
TP53	P04637	p.Ser46Pro	VAR_044568	missense variant	-	NC_000017.11:g.7676233A>G	UniProt
TP53	P04637	p.Ser46Pro	rs876659630	missense variant	-	NC_000017.11:g.7676233A>G	-
TP53	P04637	p.Ser46Phe	VAR_044567	Missense	-	-	UniProt
TP53	P04637	p.Pro47Thr	RCV000774798	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676230G>T	ClinVar
TP53	P04637	p.Pro47Ser	RCV000036530	missense variant	-	NC_000017.11:g.7676230G>A	ClinVar
TP53	P04637	p.Pro47Thr	rs1800371	missense variant	-	NC_000017.11:g.7676230G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro47Thr	RCV000463583	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676230G>T	ClinVar
TP53	P04637	p.Pro47Ser	rs1800371	missense variant	-	NC_000017.11:g.7676230G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro47Ter	RCV000696659	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676232del	ClinVar
TP53	P04637	p.Pro47Leu	VAR_044569	Missense	-	-	UniProt
TP53	P04637	p.Asp48Glu	RCV000129395	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676225G>T	ClinVar
TP53	P04637	p.Asp48Glu	rs587781460	missense variant	-	NC_000017.11:g.7676225G>T	TOPMed
TP53	P04637	p.Asp48Glu	RCV000813083	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676225G>T	ClinVar
TP53	P04637	p.Asp48Gly	VAR_044570	Missense	-	-	UniProt
TP53	P04637	p.Asp49His	rs587780728	missense variant	-	NC_000017.11:g.7676224C>G	UniProt,dbSNP
TP53	P04637	p.Asp49His	VAR_044571	missense variant	-	NC_000017.11:g.7676224C>G	UniProt
TP53	P04637	p.Asp49His	RCV000410497	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676224C>G	ClinVar
TP53	P04637	p.Asp49Asn	rs587780728	missense variant	-	NC_000017.11:g.7676224C>T	ExAC,gnomAD
TP53	P04637	p.Asp49His	RCV000129275	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676224C>G	ClinVar
TP53	P04637	p.Asp49Asn	RCV000165946	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676224C>T	ClinVar
TP53	P04637	p.Asp49His	RCV000123095	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676224C>G	ClinVar
TP53	P04637	p.Asp49Asn	rs587780728	missense variant	-	NC_000017.11:g.7676224C>T	UniProt,dbSNP
TP53	P04637	p.Asp49Asn	VAR_044572	missense variant	-	NC_000017.11:g.7676224C>T	UniProt
TP53	P04637	p.Asp49Gly	rs759728549	missense variant	-	NC_000017.11:g.7676223T>C	ExAC,gnomAD
TP53	P04637	p.Asp49Gly	RCV000219898	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676223T>C	ClinVar
TP53	P04637	p.Asp49Gly	RCV000702036	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676223T>C	ClinVar
TP53	P04637	p.Asp49His	rs587780728	missense variant	-	NC_000017.11:g.7676224C>G	ExAC,gnomAD
TP53	P04637	p.Asp49Tyr	VAR_044573	Missense	-	-	UniProt
TP53	P04637	p.Ile50Thr	RCV000662678	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676220A>G	ClinVar
TP53	P04637	p.Ile50Thr	RCV000220760	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676220A>G	ClinVar
TP53	P04637	p.Ile50Asn	rs370502517	missense variant	-	NC_000017.11:g.7676220A>T	ESP,TOPMed
TP53	P04637	p.Ile50Thr	rs370502517	missense variant	-	NC_000017.11:g.7676220A>G	ESP,TOPMed
TP53	P04637	p.Ile50Asn	RCV000633380	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676220A>T	ClinVar
TP53	P04637	p.Ile50Asn	RCV000167020	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676220A>T	ClinVar
TP53	P04637	p.Ile50Thr	RCV000197538	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676220A>G	ClinVar
TP53	P04637	p.Glu51Ter	RCV000689241	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676218C>A	ClinVar
TP53	P04637	p.Glu51Gly	RCV000700746	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676217T>C	ClinVar
TP53	P04637	p.Gln52Arg	RCV000227571	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676214T>C	ClinVar
TP53	P04637	p.Gln52Arg	RCV000562350	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676214T>C	ClinVar
TP53	P04637	p.GlnTrp52GlnTerMetUnk	rs1195793509	stop gained	-	NC_000017.11:g.7676211_7676214dup	gnomAD
TP53	P04637	p.GlnTrp52GlnTerTrp	rs587782609	stop gained	-	NC_000017.11:g.7676212_7676214dup	-
TP53	P04637	p.Gln52Arg	rs774656101	missense variant	-	NC_000017.11:g.7676214T>C	ExAC,gnomAD
TP53	P04637	p.Gln52Ter	RCV000633379	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676213_7676214del	ClinVar
TP53	P04637	p.Gln52Ter	RCV000785248	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676217dup	ClinVar
TP53	P04637	p.Gln52His	VAR_044574	Missense	-	-	UniProt
TP53	P04637	p.Trp53Ter	RCV000693351	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676211C>T	ClinVar
TP53	P04637	p.Trp53Ter	RCV000480240	nonsense	-	NC_000017.11:g.7676210C>T	ClinVar
TP53	P04637	p.Trp53Ter	RCV000785268	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676211_7676214dup	ClinVar
TP53	P04637	p.Trp53Ter	RCV000222677	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676211C>T	ClinVar
TP53	P04637	p.Trp53Ter	RCV000785314	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676211C>T	ClinVar
TP53	P04637	p.Trp53Ter	RCV000131982	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676212_7676214dup	ClinVar
TP53	P04637	p.Trp53Ter	rs1064794618	stop gained	-	NC_000017.11:g.7676210C>T	-
TP53	P04637	p.Trp53Ter	rs876658483	stop gained	-	NC_000017.11:g.7676211C>T	-
TP53	P04637	p.Trp53Ter	RCV000528831	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676214dup	ClinVar
TP53	P04637	p.Trp53Cys	VAR_005854	Missense	-	-	UniProt
TP53	P04637	p.Trp53Gly	VAR_044575	Missense	-	-	UniProt
TP53	P04637	p.Phe54Leu	rs1555526742	missense variant	-	NC_000017.11:g.7676209A>G	-
TP53	P04637	p.Phe54Leu	rs1555526742	missense variant	-	NC_000017.11:g.7676209A>G	UniProt,dbSNP
TP53	P04637	p.Phe54Leu	VAR_044576	missense variant	-	NC_000017.11:g.7676209A>G	UniProt
TP53	P04637	p.Phe54Leu	RCV000571144	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676209A>G	ClinVar
TP53	P04637	p.Phe54Tyr	VAR_044577	Missense	-	-	UniProt
TP53	P04637	p.Glu56Val	VAR_044579	Missense	-	-	UniProt
TP53	P04637	p.Glu56Lys	VAR_044578	Missense	-	-	UniProt
TP53	P04637	p.Asp57Glu	rs587782776	missense variant	-	NC_000017.11:g.7676198G>T	TOPMed
TP53	P04637	p.Asp57Glu	RCV000411346	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676198G>T	ClinVar
TP53	P04637	p.Asp57Glu	RCV000132310	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676198G>T	ClinVar
TP53	P04637	p.Asp57Gly	rs1442824382	missense variant	-	NC_000017.11:g.7676199T>C	gnomAD
TP53	P04637	p.Pro58Arg	RCV000662515	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676196G>C	ClinVar
TP53	P04637	p.Pro58Arg	rs144386518	missense variant	-	NC_000017.11:g.7676196G>C	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro58Gln	VAR_044580	Missense	-	-	UniProt
TP53	P04637	p.Pro58Thr	VAR_044581	Missense	-	-	UniProt
TP53	P04637	p.Gly59Ter	RCV000785292	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676194del	ClinVar
TP53	P04637	p.Gly59Cys	rs1237722021	missense variant	-	NC_000017.11:g.7676194C>A	gnomAD
TP53	P04637	p.Gly59Asn	VAR_045783	Missense	-	-	UniProt
TP53	P04637	p.Gly59Asp	VAR_044583	Missense	-	-	UniProt
TP53	P04637	p.Pro60Leu	VAR_044584	Missense	-	-	UniProt
TP53	P04637	p.Pro60Ser	VAR_005855	Missense	-	-	UniProt
TP53	P04637	p.Pro60Gln	VAR_044585	Missense	-	-	UniProt
TP53	P04637	p.Asp61Gly	rs1460793472	missense variant	-	NC_000017.11:g.7676187T>C	UniProt,dbSNP
TP53	P04637	p.Asp61Gly	VAR_044586	missense variant	-	NC_000017.11:g.7676187T>C	UniProt
TP53	P04637	p.Asp61Gly	rs1460793472	missense variant	-	NC_000017.11:g.7676187T>C	TOPMed,gnomAD
TP53	P04637	p.Asp61Asn	VAR_044587	Missense	-	-	UniProt
TP53	P04637	p.Glu62Ter	RCV000754578	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676185C>A	ClinVar
TP53	P04637	p.Glu62Asp	VAR_044588	Missense	-	-	UniProt
TP53	P04637	p.Ala63Thr	RCV000213479	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676182C>T	ClinVar
TP53	P04637	p.Ala63Gly	rs372201428	missense variant	-	NC_000017.11:g.7676181G>C	ExAC,gnomAD
TP53	P04637	p.Ala63Gly	RCV000614877	missense variant	-	NC_000017.11:g.7676181G>C	ClinVar
TP53	P04637	p.Ala63Val	RCV000663264	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676181G>A	ClinVar
TP53	P04637	p.Ala63Val	RCV000467874	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676181G>A	ClinVar
TP53	P04637	p.Ala63Gly	RCV000216082	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676181G>C	ClinVar
TP53	P04637	p.Ala63Thr	rs876658902	missense variant	-	NC_000017.11:g.7676182C>T	-
TP53	P04637	p.Ala63Thr	rs876658902	missense variant	-	NC_000017.11:g.7676182C>T	UniProt,dbSNP
TP53	P04637	p.Ala63Thr	VAR_044589	missense variant	-	NC_000017.11:g.7676182C>T	UniProt
TP53	P04637	p.Ala63Val	RCV000161018	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676181G>A	ClinVar
TP53	P04637	p.Ala63Val	rs372201428	missense variant	-	NC_000017.11:g.7676181G>A	ExAC,gnomAD
TP53	P04637	p.Ala63Val	rs372201428	missense variant	-	NC_000017.11:g.7676181G>A	UniProt,dbSNP
TP53	P04637	p.Ala63Val	VAR_044590	missense variant	-	NC_000017.11:g.7676181G>A	UniProt
TP53	P04637	p.Ala63Gly	RCV000587780	missense variant	-	NC_000017.11:g.7676181G>C	ClinVar
TP53	P04637	p.Ala63Val	RCV000213047	missense variant	-	NC_000017.11:g.7676181G>A	ClinVar
TP53	P04637	p.Ala63Gly	RCV000465288	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676181G>C	ClinVar
TP53	P04637	p.Arg65Thr	RCV000471826	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676175C>G	ClinVar
TP53	P04637	p.Arg65Thr	rs1060501210	missense variant	-	NC_000017.11:g.7676175C>G	-
TP53	P04637	p.Arg65Ter	RCV000785253	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676176T>A	ClinVar
TP53	P04637	p.Met66Ile	rs1555526711	missense variant	-	NC_000017.11:g.7676171C>T	-
TP53	P04637	p.Met66Ile	rs1555526711	missense variant	-	NC_000017.11:g.7676171C>T	UniProt,dbSNP
TP53	P04637	p.Met66Ile	VAR_044592	missense variant	-	NC_000017.11:g.7676171C>T	UniProt
TP53	P04637	p.Met66Ile	RCV000565744	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676171C>T	ClinVar
TP53	P04637	p.Met66Arg	VAR_044593	Missense	-	-	UniProt
TP53	P04637	p.Pro67Gln	rs1555526709	missense variant	-	NC_000017.11:g.7676169G>T	-
TP53	P04637	p.Pro67Gln	RCV000633377	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676169G>T	ClinVar
TP53	P04637	p.Pro67Leu	VAR_044594	Missense	-	-	UniProt
TP53	P04637	p.Pro67Arg	VAR_044595	Missense	-	-	UniProt
TP53	P04637	p.Pro67Ser	VAR_044596	Missense	-	-	UniProt
TP53	P04637	p.Glu68Gln	RCV000580822	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676167C>G	ClinVar
TP53	P04637	p.Glu68Ter	RCV000210192	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676167C>A	ClinVar
TP53	P04637	p.Glu68Gln	VAR_044598	Missense	-	-	UniProt
TP53	P04637	p.Glu68Gly	VAR_044597	Missense	-	-	UniProt
TP53	P04637	p.Ala69Gly	rs756233241	missense variant	-	NC_000017.11:g.7676163G>C	UniProt,dbSNP
TP53	P04637	p.Ala69Gly	VAR_044600	missense variant	-	NC_000017.11:g.7676163G>C	UniProt
TP53	P04637	p.Ala69Gly	RCV000222309	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676163G>C	ClinVar
TP53	P04637	p.Ala69Thr	RCV000698086	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676164C>T	ClinVar
TP53	P04637	p.Ala69Val	rs756233241	missense variant	-	NC_000017.11:g.7676163G>A	UniProt,dbSNP
TP53	P04637	p.Ala69Val	VAR_044602	missense variant	-	NC_000017.11:g.7676163G>A	UniProt
TP53	P04637	p.Ala69Val	RCV000633366	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676163G>A	ClinVar
TP53	P04637	p.Ala69Thr	VAR_044601	Missense	-	-	UniProt
TP53	P04637	p.Ala69Asp	VAR_044599	Missense	-	-	UniProt
TP53	P04637	p.Ala70Val	RCV000774900	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676160G>A	ClinVar
TP53	P04637	p.Ala70Thr	VAR_044603	Missense	-	-	UniProt
TP53	P04637	p.Pro71Arg	RCV000230713	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676157G>C	ClinVar
TP53	P04637	p.Pro71Ala	RCV000700185	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676158G>C	ClinVar
TP53	P04637	p.Pro71Arg	rs878854065	missense variant	-	NC_000017.11:g.7676157G>C	-
TP53	P04637	p.Pro71Ser	RCV000693744	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676158G>A	ClinVar
TP53	P04637	p.Pro71Ser	RCV000771703	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676158G>A	ClinVar
TP53	P04637	p.Pro71Thr	VAR_044604	Missense	-	-	UniProt
TP53	P04637	p.Pro72His	rs1042522	missense variant	-	NC_000017.11:g.7676154G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Arg	rs1042522	missense variant	-	NC_000017.11:g.7676154G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Arg	RCV000300782	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72Arg	RCV000034639	missense variant	-	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72His	RCV000164487	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676154G>T	ClinVar
TP53	P04637	p.Pro72Arg	RCV000144668	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72Arg	RCV000079202	missense variant	-	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72Arg	RCV000132165	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72Ter	RCV000492601	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676154_7676155insC	ClinVar
TP53	P04637	p.Pro72Ala	RCV000409340	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676155G>C	ClinVar
TP53	P04637	p.Pro72Thr	RCV000223537	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676155G>T	ClinVar
TP53	P04637	p.Pro72Cys	RCV000554325	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676154_7676155delinsCA	ClinVar
TP53	P04637	p.Pro72Cys	RCV000161055	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676154_7676155delinsCA	ClinVar
TP53	P04637	p.Pro72Arg	RCV000233585	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676153_7676154delinsAC	ClinVar
TP53	P04637	p.Pro72Arg	rs1042522	missense variant	-	NC_000017.11:g.7676154G>C	UniProt,dbSNP
TP53	P04637	p.Pro72Arg	VAR_005856	missense variant	-	NC_000017.11:g.7676154G>C	UniProt
TP53	P04637	p.Pro72Ser	rs587782769	missense variant	-	NC_000017.11:g.7676155G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Ala	RCV000473980	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676155G>C	ClinVar
TP53	P04637	p.Pro72Ala	RCV000132297	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676155G>C	ClinVar
TP53	P04637	p.Pro72Ser	RCV000573116	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676155G>A	ClinVar
TP53	P04637	p.Pro72Cys	RCV000587915	missense variant	-	NC_000017.11:g.7676154_7676155delinsCA	ClinVar
TP53	P04637	p.Pro72Ala	RCV000478624	missense variant	-	NC_000017.11:g.7676155G>C	ClinVar
TP53	P04637	p.Pro72Arg	rs878854066	missense variant	-	NC_000017.11:g.7676153_7676154delinsAC	-
TP53	P04637	p.Pro72His	rs1042522	missense variant	-	NC_000017.11:g.7676154G>T	UniProt,dbSNP
TP53	P04637	p.Pro72His	VAR_045786	missense variant	-	NC_000017.11:g.7676154G>T	UniProt
TP53	P04637	p.Pro72Thr	rs587782769	missense variant	-	NC_000017.11:g.7676155G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Ala	rs587782769	missense variant	-	NC_000017.11:g.7676155G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro72Cys	RCV000410841	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676154_7676155delinsCA	ClinVar
TP53	P04637	p.Pro72His	RCV000227427	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676154G>T	ClinVar
TP53	P04637	p.Pro72Arg	RCV000013144	missense variant	CODON 72 POLYMORPHISM	NC_000017.11:g.7676154G>C	ClinVar
TP53	P04637	p.Pro72Cys	rs730882014	missense variant	-	NC_000017.11:g.7676154_7676155delinsCA	-
TP53	P04637	p.Pro72Arg	RCV000780780	missense variant	-	NC_000017.11:g.7676153_7676154delinsAC	ClinVar
TP53	P04637	p.Pro72Leu	VAR_045787	Missense	-	-	UniProt
TP53	P04637	p.Pro72Gly	VAR_045785	Missense	-	-	UniProt
TP53	P04637	p.Val73Met	RCV000553568	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676152C>T	ClinVar
TP53	P04637	p.Val73Ter	RCV000785475	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676158del	ClinVar
TP53	P04637	p.Val73Ter	RCV000161059	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676158dup	ClinVar
TP53	P04637	p.Val73Ter	RCV000492385	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676158del	ClinVar
TP53	P04637	p.Val73Ter	RCV000538223	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676158dup	ClinVar
TP53	P04637	p.Val73Ter	RCV000013157	frameshift	Li-Fraumeni-like syndrome (LFL)	NC_000017.11:g.7676158dup	ClinVar
TP53	P04637	p.Val73Met	rs587782423	missense variant	-	NC_000017.11:g.7676152C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Val73Met	rs587782423	missense variant	-	NC_000017.11:g.7676152C>T	UniProt,dbSNP
TP53	P04637	p.Val73Met	VAR_044607	missense variant	-	NC_000017.11:g.7676152C>T	UniProt
TP53	P04637	p.Val73Leu	VAR_044606	Missense	-	-	UniProt
TP53	P04637	p.Val73Glu	VAR_044605	Missense	-	-	UniProt
TP53	P04637	p.Ala74Val	RCV000130119	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676148G>A	ClinVar
TP53	P04637	p.Ala74Val	RCV000487230	missense variant	-	NC_000017.11:g.7676148G>A	ClinVar
TP53	P04637	p.Ala74Val	RCV000816275	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676148G>A	ClinVar
TP53	P04637	p.Ala74Val	rs587781832	missense variant	-	NC_000017.11:g.7676148G>A	ExAC,gnomAD
TP53	P04637	p.Ala74Thr	VAR_044608	Missense	-	-	UniProt
TP53	P04637	p.Pro75Arg	VAR_044610	Missense	-	-	UniProt
TP53	P04637	p.Pro75Leu	VAR_044609	Missense	-	-	UniProt
TP53	P04637	p.Pro75Ser	VAR_044611	Missense	-	-	UniProt
TP53	P04637	p.Ala76Glu	rs1235781676	missense variant	-	NC_000017.11:g.7676142G>T	gnomAD
TP53	P04637	p.Ala76Ter	RCV000492268	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676099_7676151del	ClinVar
TP53	P04637	p.Ala76Ter	RCV000785450	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676148dup	ClinVar
TP53	P04637	p.Ala76Thr	VAR_044613	Missense	-	-	UniProt
TP53	P04637	p.Ala76Gly	VAR_044612	Missense	-	-	UniProt
TP53	P04637	p.Pro77Ser	rs753085009	missense variant	-	NC_000017.11:g.7676140G>A	ExAC,gnomAD
TP53	P04637	p.Pro77Ser	RCV000633383	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676140G>A	ClinVar
TP53	P04637	p.Pro77Thr	rs753085009	missense variant	-	NC_000017.11:g.7676140G>T	ExAC,gnomAD
TP53	P04637	p.Pro77Thr	RCV000546598	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676140G>T	ClinVar
TP53	P04637	p.Pro77Thr	RCV000563835	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676140G>T	ClinVar
TP53	P04637	p.Pro77Ala	VAR_044614	Missense	-	-	UniProt
TP53	P04637	p.Ala78Gly	RCV000219512	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676136G>C	ClinVar
TP53	P04637	p.Ala78Thr	RCV000573984	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676137C>T	ClinVar
TP53	P04637	p.Ala78Gly	rs876658527	missense variant	-	NC_000017.11:g.7676136G>C	TOPMed,gnomAD
TP53	P04637	p.Ala78Thr	rs1555526673	missense variant	-	NC_000017.11:g.7676137C>T	-
TP53	P04637	p.Ala78Gly	RCV000552207	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676136G>C	ClinVar
TP53	P04637	p.Ala78Val	VAR_044615	Missense	-	-	UniProt
TP53	P04637	p.Ala79Gly	VAR_044616	Missense	-	-	UniProt
TP53	P04637	p.Ala79Val	VAR_044617	Missense	-	-	UniProt
TP53	P04637	p.Ala79Thr	VAR_005857	Missense	-	-	UniProt
TP53	P04637	p.Pro80Ser	RCV000477161	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676131G>A	ClinVar
TP53	P04637	p.Pro80Ser	RCV000566683	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676131G>A	ClinVar
TP53	P04637	p.Pro80Ser	rs1060501204	missense variant	-	NC_000017.11:g.7676131G>A	-
TP53	P04637	p.Pro80Leu	VAR_044618	Missense	-	-	UniProt
TP53	P04637	p.Thr81Ile	RCV000707346	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676127G>A	ClinVar
TP53	P04637	p.Thr81Ile	VAR_044620	Missense	-	-	UniProt
TP53	P04637	p.Pro82Arg	RCV000545821	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676124G>C	ClinVar
TP53	P04637	p.Pro82Leu	RCV000213048	missense variant	-	NC_000017.11:g.7676124G>A	ClinVar
TP53	P04637	p.Pro82Leu	RCV000205955	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676124G>A	ClinVar
TP53	P04637	p.Pro82Arg	rs534447939	missense variant	-	NC_000017.11:g.7676124G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro82Ala	rs1555526664	missense variant	-	NC_000017.11:g.7676125G>C	-
TP53	P04637	p.Pro82Leu	rs534447939	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676124G>A	UniProt,dbSNP
TP53	P04637	p.Pro82Leu	VAR_044621	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676124G>A	UniProt
TP53	P04637	p.Pro82Leu	rs534447939	missense variant	-	NC_000017.11:g.7676124G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro82Ala	RCV000573848	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676125G>C	ClinVar
TP53	P04637	p.Pro82Ser	VAR_044622	Missense	-	-	UniProt
TP53	P04637	p.Ala83Ter	RCV000785281	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676123del	ClinVar
TP53	P04637	p.Ala83Val	rs201717599	missense variant	-	NC_000017.11:g.7676121G>A	UniProt,dbSNP
TP53	P04637	p.Ala83Val	VAR_044624	missense variant	-	NC_000017.11:g.7676121G>A	UniProt
TP53	P04637	p.Ala83Val	rs201717599	missense variant	-	NC_000017.11:g.7676121G>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ala83Glu	rs201717599	missense variant	-	NC_000017.11:g.7676121G>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ala83Ter	RCV000492289	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676121_7676122del	ClinVar
TP53	P04637	p.Ala83Val	RCV000409540	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676121G>A	ClinVar
TP53	P04637	p.Ala83Glu	RCV000130694	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676121G>T	ClinVar
TP53	P04637	p.Ala83Ter	RCV000657303	frameshift	-	NC_000017.11:g.7676114_7676123del	ClinVar
TP53	P04637	p.Ala83Ter	RCV000785483	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676118_7676125del	ClinVar
TP53	P04637	p.Ala83Glu	rs201717599	missense variant	-	NC_000017.11:g.7676121G>T	UniProt,dbSNP
TP53	P04637	p.Ala83Glu	VAR_044623	missense variant	-	NC_000017.11:g.7676121G>T	UniProt
TP53	P04637	p.Ala83Val	RCV000679367	missense variant	-	NC_000017.11:g.7676121G>A	ClinVar
TP53	P04637	p.Ala84Thr	RCV000759372	missense variant	-	NC_000017.11:g.7676119C>T	ClinVar
TP53	P04637	p.Ala84Thr	RCV000462026	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676119C>T	ClinVar
TP53	P04637	p.Ala84Thr	RCV000129026	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676119C>T	ClinVar
TP53	P04637	p.Ala84Thr	RCV000409852	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676119C>T	ClinVar
TP53	P04637	p.Ala84Thr	rs587781307	missense variant	-	NC_000017.11:g.7676119C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Ala84Gly	VAR_044625	Missense	-	-	UniProt
TP53	P04637	p.Ala84Val	VAR_044626	Missense	-	-	UniProt
TP53	P04637	p.Pro85Ter	RCV000486807	frameshift	-	NC_000017.11:g.7676118del	ClinVar
TP53	P04637	p.Pro85Leu	VAR_044627	Missense	-	-	UniProt
TP53	P04637	p.Pro85Ser	VAR_044628	Missense	-	-	UniProt
TP53	P04637	p.Ala86Ter	RCV000365382	frameshift	-	NC_000017.11:g.7676098_7676120del	ClinVar
TP53	P04637	p.Ala86Thr	RCV000478688	missense variant	-	NC_000017.11:g.7676113C>T	ClinVar
TP53	P04637	p.Ala86Thr	RCV000633343	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676113C>T	ClinVar
TP53	P04637	p.Ala86Thr	rs587782148	missense variant	-	NC_000017.11:g.7676113C>T	-
TP53	P04637	p.Ala86Ter	RCV000709410	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676098_7676120del	ClinVar
TP53	P04637	p.Ala86Val	VAR_044629	Missense	-	-	UniProt
TP53	P04637	p.Pro87Ter	RCV000785459	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676100_7676110del	ClinVar
TP53	P04637	p.Pro87Gln	VAR_005858	Missense	-	-	UniProt
TP53	P04637	p.Ala88Val	RCV000565147	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676106G>A	ClinVar
TP53	P04637	p.Ala88Val	rs1555526631	missense variant	-	NC_000017.11:g.7676106G>A	UniProt,dbSNP
TP53	P04637	p.Ala88Val	VAR_044631	missense variant	-	NC_000017.11:g.7676106G>A	UniProt
TP53	P04637	p.Ala88Val	rs1555526631	missense variant	-	NC_000017.11:g.7676106G>A	-
TP53	P04637	p.Ala88Pro	RCV000773977	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676107C>G	ClinVar
TP53	P04637	p.Ala88Thr	VAR_044630	Missense	-	-	UniProt
TP53	P04637	p.Pro89Leu	RCV000560488	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676103G>A	ClinVar
TP53	P04637	p.Pro89Leu	RCV000161019	missense variant	-	NC_000017.11:g.7676103G>A	ClinVar
TP53	P04637	p.Pro89Leu	rs730881994	missense variant	-	NC_000017.11:g.7676103G>A	-
TP53	P04637	p.Pro89Ser	VAR_044633	Missense	-	-	UniProt
TP53	P04637	p.Ser90Ter	RCV000144663	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676106del	ClinVar
TP53	P04637	p.Ser90Ter	RCV000785494	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676106dup	ClinVar
TP53	P04637	p.Ser90Phe	rs1555526625	missense variant	-	NC_000017.11:g.7676100G>A	UniProt,dbSNP
TP53	P04637	p.Ser90Phe	VAR_044634	missense variant	-	NC_000017.11:g.7676100G>A	UniProt
TP53	P04637	p.Ser90Phe	rs1555526625	missense variant	-	NC_000017.11:g.7676100G>A	-
TP53	P04637	p.Ser90Phe	RCV000633387	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676100G>A	ClinVar
TP53	P04637	p.Ser90Tyr	VAR_044635	Missense	-	-	UniProt
TP53	P04637	p.Trp91Ter	RCV000479803	frameshift	-	NC_000017.11:g.7676094_7676100del	ClinVar
TP53	P04637	p.Trp91Ter	RCV000220815	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676096C>T	ClinVar
TP53	P04637	p.Trp91Ter	RCV000785284	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676096C>T	ClinVar
TP53	P04637	p.Trp91Ter	rs876660548	stop gained	-	NC_000017.11:g.7676096C>T	-
TP53	P04637	p.Trp91Ter	RCV000233967	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676096C>T	ClinVar
TP53	P04637	p.Trp91Ter	RCV000657656	nonsense	-	NC_000017.11:g.7676096C>T	ClinVar
TP53	P04637	p.Trp91Cys	VAR_044636	Missense	-	-	UniProt
TP53	P04637	p.Pro92Leu	RCV000811514	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676094G>A	ClinVar
TP53	P04637	p.Pro92Leu	RCV000566433	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676094G>A	ClinVar
TP53	P04637	p.Pro92Leu	rs1210700121	missense variant	-	NC_000017.11:g.7676094G>A	UniProt,dbSNP
TP53	P04637	p.Pro92Leu	VAR_044638	missense variant	-	NC_000017.11:g.7676094G>A	UniProt
TP53	P04637	p.Pro92Leu	rs1210700121	missense variant	-	NC_000017.11:g.7676094G>A	gnomAD
TP53	P04637	p.Pro92Ser	VAR_044639	Missense	-	-	UniProt
TP53	P04637	p.Pro92Ala	VAR_044637	Missense	-	-	UniProt
TP53	P04637	p.Leu93Ter	RCV000785294	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676095del	ClinVar
TP53	P04637	p.Leu93Ter	RCV000785287	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676091del	ClinVar
TP53	P04637	p.Leu93Met	VAR_044640	Missense	-	-	UniProt
TP53	P04637	p.Leu93Pro	VAR_044641	Missense	-	-	UniProt
TP53	P04637	p.Ser94Leu	VAR_044642	Missense	-	-	UniProt
TP53	P04637	p.Ser94Thr	VAR_005859	Missense	-	-	UniProt
TP53	P04637	p.Ser95Ter	RCV000785322	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676082_7676086del	ClinVar
TP53	P04637	p.Ser95Phe	VAR_044643	Missense	-	-	UniProt
TP53	P04637	p.Ser95Thr	VAR_044644	Missense	-	-	UniProt
TP53	P04637	p.Ser96Pro	VAR_044647	Missense	-	-	UniProt
TP53	P04637	p.Ser96Cys	VAR_044645	Missense	-	-	UniProt
TP53	P04637	p.Ser96Phe	VAR_044646	Missense	-	-	UniProt
TP53	P04637	p.Val97Ile	rs730882023	missense variant	-	NC_000017.11:g.7676080C>T	gnomAD
TP53	P04637	p.Val97Leu	RCV000161064	missense variant	-	NC_000017.11:g.7676080C>G	ClinVar
TP53	P04637	p.Val97Phe	RCV000545045	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676080C>A	ClinVar
TP53	P04637	p.Val97Phe	rs730882023	missense variant	-	NC_000017.11:g.7676080C>A	gnomAD
TP53	P04637	p.Val97Leu	rs730882023	missense variant	-	NC_000017.11:g.7676080C>G	gnomAD
TP53	P04637	p.Val97Asp	rs730881995	missense variant	-	NC_000017.11:g.7676079A>T	-
TP53	P04637	p.Val97Asp	RCV000161020	missense variant	-	NC_000017.11:g.7676079A>T	ClinVar
TP53	P04637	p.Val97Phe	VAR_044649	Missense	-	-	UniProt
TP53	P04637	p.Val97Ala	VAR_044648	Missense	-	-	UniProt
TP53	P04637	p.Pro98Leu	RCV000633328	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676076G>A	ClinVar
TP53	P04637	p.Pro98Leu	rs1245723119	missense variant	-	NC_000017.11:g.7676076G>A	gnomAD
TP53	P04637	p.Pro98Leu	rs1245723119	missense variant	-	NC_000017.11:g.7676076G>A	UniProt,dbSNP
TP53	P04637	p.Pro98Leu	VAR_044651	missense variant	-	NC_000017.11:g.7676076G>A	UniProt
TP53	P04637	p.Pro98Ser	VAR_044652	Missense	-	-	UniProt
TP53	P04637	p.Ser99Ter	RCV000161056	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676074_7676077del	ClinVar
TP53	P04637	p.Ser99Phe	RCV000702643	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676073G>A	ClinVar
TP53	P04637	p.Ser99Cys	RCV000686905	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676073G>C	ClinVar
TP53	P04637	p.Ser99Ter	RCV000633340	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676075del	ClinVar
TP53	P04637	p.Ser99Phe	VAR_044653	Missense	-	-	UniProt
TP53	P04637	p.Ser99Pro	VAR_044654	Missense	-	-	UniProt
TP53	P04637	p.Gln100Ter	RCV000785260	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676073del	ClinVar
TP53	P04637	p.Gln100Ter	RCV000785339	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676071G>A	ClinVar
TP53	P04637	p.Gln100Arg	VAR_044655	Missense	-	-	UniProt
TP53	P04637	p.Lys101Asn	RCV000776369	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676066T>A	ClinVar
TP53	P04637	p.Lys101Glu	rs1373046761	missense variant	-	NC_000017.11:g.7676068T>C	TOPMed
TP53	P04637	p.Lys101Asn	rs878854069	missense variant	-	NC_000017.11:g.7676066T>A	-
TP53	P04637	p.Lys101Asn	rs878854069	missense variant	-	NC_000017.11:g.7676066T>A	UniProt,dbSNP
TP53	P04637	p.Lys101Asn	VAR_044656	missense variant	-	NC_000017.11:g.7676066T>A	UniProt
TP53	P04637	p.Lys101Asn	RCV000234638	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676066T>A	ClinVar
TP53	P04637	p.Lys101Arg	VAR_044657	Missense	-	-	UniProt
TP53	P04637	p.Thr102Ile	RCV000165667	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676064G>A	ClinVar
TP53	P04637	p.Thr102Ile	RCV000819967	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676064G>A	ClinVar
TP53	P04637	p.Thr102Ser	RCV000771730	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676065T>A	ClinVar
TP53	P04637	p.Thr102Ile	rs786202717	missense variant	-	NC_000017.11:g.7676064G>A	UniProt,dbSNP
TP53	P04637	p.Thr102Ile	VAR_044658	missense variant	-	NC_000017.11:g.7676064G>A	UniProt
TP53	P04637	p.Thr102Ile	rs786202717	missense variant	-	NC_000017.11:g.7676064G>A	-
TP53	P04637	p.Thr102Ser	RCV000706015	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676065T>A	ClinVar
TP53	P04637	p.Tyr103His	rs1555526589	missense variant	-	NC_000017.11:g.7676062A>G	-
TP53	P04637	p.Tyr103His	RCV000559575	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676062A>G	ClinVar
TP53	P04637	p.Gln104Ter	RCV000570916	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676040_7676059del	ClinVar
TP53	P04637	p.Gln104Ter	RCV000785246	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676060del	ClinVar
TP53	P04637	p.Gln104Ter	RCV000686865	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676059G>A	ClinVar
TP53	P04637	p.Gln104Ter	RCV000785541	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676059G>A	ClinVar
TP53	P04637	p.Gln104His	VAR_044659	Missense	-	-	UniProt
TP53	P04637	p.Gln104Leu	VAR_044660	Missense	-	-	UniProt
TP53	P04637	p.Gly105Arg	RCV000492606	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676056C>G	ClinVar
TP53	P04637	p.Gly105Ser	RCV000492331	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676056C>T	ClinVar
TP53	P04637	p.Gly105Val	RCV000785342	missense variant	Ovarian Neoplasms	NC_000017.11:g.7676055C>A	ClinVar
TP53	P04637	p.Gly105Ter	RCV000727568	frameshift	-	NC_000017.11:g.7676057del	ClinVar
TP53	P04637	p.Gly105Asp	RCV000228756	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676055C>T	ClinVar
TP53	P04637	p.Gly105Asp	rs587781504	missense variant	-	NC_000017.11:g.7676055C>T	UniProt,dbSNP
TP53	P04637	p.Gly105Asp	VAR_044662	missense variant	-	NC_000017.11:g.7676055C>T	UniProt
TP53	P04637	p.Gly105Asp	rs587781504	missense variant	-	NC_000017.11:g.7676055C>T	TOPMed,gnomAD
TP53	P04637	p.Gly105Cys	VAR_044661	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Gly105Val	VAR_044665	Missense	-	-	UniProt
TP53	P04637	p.Ser106Ile	RCV000774504	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676052C>A	ClinVar
TP53	P04637	p.Ser106Arg	RCV000582529	missense variant	-	NC_000017.11:g.7676051G>C	ClinVar
TP53	P04637	p.Ser106Arg	rs1555526581	missense variant	-	NC_000017.11:g.7676051G>C	UniProt,dbSNP
TP53	P04637	p.Ser106Arg	VAR_044667	missense variant	-	NC_000017.11:g.7676051G>C	UniProt
TP53	P04637	p.Ser106Arg	rs1555526581	missense variant	-	NC_000017.11:g.7676051G>C	-
TP53	P04637	p.Ser106Gly	VAR_044666	Missense	-	-	UniProt
TP53	P04637	p.Tyr107Ser	rs587782447	missense variant	-	NC_000017.11:g.7676049T>G	-
TP53	P04637	p.Tyr107Asn	RCV000460800	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676050A>T	ClinVar
TP53	P04637	p.Tyr107Cys	RCV000132052	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676049T>C	ClinVar
TP53	P04637	p.Tyr107Ter	RCV000473161	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676048G>T	ClinVar
TP53	P04637	p.Tyr107Ser	RCV000131517	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676049T>G	ClinVar
TP53	P04637	p.Tyr107Cys	RCV000709408	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676049T>C	ClinVar
TP53	P04637	p.Tyr107Cys	rs587782447	missense variant	-	NC_000017.11:g.7676049T>C	UniProt,dbSNP
TP53	P04637	p.Tyr107Cys	VAR_044668	missense variant	-	NC_000017.11:g.7676049T>C	UniProt
TP53	P04637	p.Tyr107Cys	rs587782447	missense variant	-	NC_000017.11:g.7676049T>C	-
TP53	P04637	p.Tyr107His	rs368771578	missense variant	-	NC_000017.11:g.7676050A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Tyr107Asn	rs368771578	missense variant	-	NC_000017.11:g.7676050A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Tyr107His	RCV000411273	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7676050A>G	ClinVar
TP53	P04637	p.Tyr107His	RCV000588191	missense variant	-	NC_000017.11:g.7676050A>G	ClinVar
TP53	P04637	p.Tyr107Ter	rs770776262	stop gained	-	NC_000017.11:g.7676048G>T	ExAC,gnomAD
TP53	P04637	p.Tyr107Asp	VAR_044669	Missense	-	-	UniProt
TP53	P04637	p.Gly108Ser	rs587782461	missense variant	-	NC_000017.11:g.7676047C>T	ExAC,gnomAD
TP53	P04637	p.Gly108Ser	rs587782461	missense variant	-	NC_000017.11:g.7676047C>T	UniProt,dbSNP
TP53	P04637	p.Gly108Ser	VAR_044672	missense variant	-	NC_000017.11:g.7676047C>T	UniProt
TP53	P04637	p.Gly108Arg	rs587782461	missense variant	-	NC_000017.11:g.7676047C>G	ExAC,gnomAD
TP53	P04637	p.Gly108Ser	RCV000679368	missense variant	-	NC_000017.11:g.7676047C>T	ClinVar
TP53	P04637	p.Gly108Arg	RCV000777270	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676047C>G	ClinVar
TP53	P04637	p.Gly108Arg	RCV000527049	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676047C>G	ClinVar
TP53	P04637	p.Gly108Ser	RCV000131548	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676047C>T	ClinVar
TP53	P04637	p.Gly108Ser	RCV000458425	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676047C>T	ClinVar
TP53	P04637	p.Gly108Cys	rs587782461	missense variant	-	NC_000017.11:g.7676047C>A	ExAC,gnomAD
TP53	P04637	p.Gly108Asp	VAR_044671	Missense	-	-	UniProt
TP53	P04637	p.Phe109Ser	rs1064796722	missense variant	-	NC_000017.11:g.7676043A>G	-
TP53	P04637	p.Phe109Ser	rs1064796722	missense variant	-	NC_000017.11:g.7676043A>G	UniProt,dbSNP
TP53	P04637	p.Phe109Ser	VAR_044675	missense variant	-	NC_000017.11:g.7676043A>G	UniProt
TP53	P04637	p.Phe109Val	rs1057523496	missense variant	-	NC_000017.11:g.7676044A>C	-
TP53	P04637	p.Phe109Cys	RCV000785545	missense variant	Ovarian Neoplasms	NC_000017.11:g.7676043A>C	ClinVar
TP53	P04637	p.Phe109Ter	RCV000492114	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676041_7676045delinsTTTT	ClinVar
TP53	P04637	p.Phe109Ser	RCV000484423	missense variant	-	NC_000017.11:g.7676043A>G	ClinVar
TP53	P04637	p.Phe109Val	RCV000434126	missense variant	-	NC_000017.11:g.7676044A>C	ClinVar
TP53	P04637	p.Phe109Ter	RCV000492295	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676043delinsTTGGG	ClinVar
TP53	P04637	p.Phe109Ter	RCV000479264	frameshift	-	NC_000017.11:g.7676041_7676042del	ClinVar
TP53	P04637	p.Phe109Cys	VAR_044673	Missense	-	-	UniProt
TP53	P04637	p.Phe109Leu	VAR_044674	Missense	-	-	UniProt
TP53	P04637	p.Arg110His	RCV000122182	missense variant	-	NC_000017.11:g.7676040C>T	ClinVar
TP53	P04637	p.Arg110Leu	RCV000473145	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676040C>A	ClinVar
TP53	P04637	p.Arg110Cys	RCV000195648	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676041G>A	ClinVar
TP53	P04637	p.Arg110Ser	RCV000461586	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676041G>T	ClinVar
TP53	P04637	p.Arg110Ter	RCV000115718	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676042del	ClinVar
TP53	P04637	p.Arg110Ser	RCV000129184	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676041G>T	ClinVar
TP53	P04637	p.Arg110Cys	RCV000414039	missense variant	-	NC_000017.11:g.7676041G>A	ClinVar
TP53	P04637	p.Arg110Cys	RCV000131196	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676041G>A	ClinVar
TP53	P04637	p.Arg110Ser	rs587781371	missense variant	-	NC_000017.11:g.7676041G>T	UniProt,dbSNP
TP53	P04637	p.Arg110Ser	VAR_044678	missense variant	-	NC_000017.11:g.7676041G>T	UniProt
TP53	P04637	p.Arg110Ser	rs587781371	missense variant	-	NC_000017.11:g.7676041G>T	ExAC,gnomAD
TP53	P04637	p.Arg110Leu	rs11540654	missense variant	-	NC_000017.11:g.7676040C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg110Pro	rs11540654	missense variant	-	NC_000017.11:g.7676040C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg110Cys	rs587781371	missense variant	-	NC_000017.11:g.7676041G>A	UniProt,dbSNP
TP53	P04637	p.Arg110Cys	VAR_005860	missense variant	-	NC_000017.11:g.7676041G>A	UniProt
TP53	P04637	p.Arg110Cys	rs587781371	missense variant	-	NC_000017.11:g.7676041G>A	ExAC,gnomAD
TP53	P04637	p.Arg110Pro	RCV000231991	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676040C>G	ClinVar
TP53	P04637	p.Arg110His	rs11540654	missense variant	-	NC_000017.11:g.7676040C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg110Gly	VAR_044676	Missense	-	-	UniProt
TP53	P04637	p.Leu111Pro	RCV000459042	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676037A>G	ClinVar
TP53	P04637	p.Leu111Ter	RCV000699900	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676042_7676048dup	ClinVar
TP53	P04637	p.Leu111Gln	RCV000424730	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Arg	RCV000430499	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Gln	RCV000434970	missense variant	Neoplasm of the breast	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Arg	RCV000423328	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Gln	RCV000442091	missense variant	Carcinoma of esophagus	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Arg	RCV000441661	missense variant	Carcinoma of esophagus	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Gln	RCV000442462	missense variant	Glioblastoma	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Gln	RCV000421931	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Gln	RCV000433598	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Ter	RCV000492097	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676042_7676048dup	ClinVar
TP53	P04637	p.Leu111Gln	RCV000443054	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Arg	RCV000420444	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Gln	RCV000433045	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7676037A>T	ClinVar
TP53	P04637	p.Leu111Arg	RCV000423948	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Arg	rs1057519997	missense variant	-	NC_000017.11:g.7676037A>C	UniProt,dbSNP
TP53	P04637	p.Leu111Arg	VAR_044682	missense variant	-	NC_000017.11:g.7676037A>C	UniProt
TP53	P04637	p.Leu111Pro	rs1057519997	missense variant	-	NC_000017.11:g.7676037A>G	UniProt,dbSNP
TP53	P04637	p.Leu111Pro	VAR_044680	missense variant	-	NC_000017.11:g.7676037A>G	UniProt
TP53	P04637	p.Leu111Gln	rs1057519997	missense variant	-	NC_000017.11:g.7676037A>T	UniProt,dbSNP
TP53	P04637	p.Leu111Gln	VAR_044681	missense variant	-	NC_000017.11:g.7676037A>T	UniProt
TP53	P04637	p.Leu111Gln	rs1057519997	missense variant	-	NC_000017.11:g.7676037A>T	-
TP53	P04637	p.Leu111Arg	RCV000435486	missense variant	Neoplasm of the breast	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Arg	RCV000429869	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Arg	RCV000440112	missense variant	Glioblastoma	NC_000017.11:g.7676037A>C	ClinVar
TP53	P04637	p.Leu111Met	VAR_044679	Missense	-	-	UniProt
TP53	P04637	p.Gly112Ser	RCV000581490	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676035C>T	ClinVar
TP53	P04637	p.Gly112Ala	rs1390502714	missense variant	-	NC_000017.11:g.7676034C>G	gnomAD
TP53	P04637	p.Gly112Ser	rs1423803759	missense variant	-	NC_000017.11:g.7676035C>T	gnomAD
TP53	P04637	p.Gly112Ser	rs1423803759	missense variant	-	NC_000017.11:g.7676035C>T	UniProt,dbSNP
TP53	P04637	p.Gly112Ser	VAR_044684	missense variant	-	NC_000017.11:g.7676035C>T	UniProt
TP53	P04637	p.Gly112Asp	VAR_044683	Missense	-	-	UniProt
TP53	P04637	p.Phe113Val	RCV000129770	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676032A>C	ClinVar
TP53	P04637	p.Phe113Val	RCV000633376	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676032A>C	ClinVar
TP53	P04637	p.Phe113Cys	RCV000785288	missense variant	Ovarian Neoplasms	NC_000017.11:g.7676031A>C	ClinVar
TP53	P04637	p.Phe113Val	rs587781642	missense variant	-	NC_000017.11:g.7676032A>C	-
TP53	P04637	p.Phe113Val	rs587781642	missense variant	-	NC_000017.11:g.7676032A>C	UniProt,dbSNP
TP53	P04637	p.Phe113Val	VAR_033033	missense variant	-	NC_000017.11:g.7676032A>C	UniProt
TP53	P04637	p.Phe113Ile	VAR_044685	Missense	-	-	UniProt
TP53	P04637	p.Phe113Ser	VAR_044687	Missense	-	-	UniProt
TP53	P04637	p.Phe113Leu	VAR_044686	Missense	-	-	UniProt
TP53	P04637	p.Phe113Gly	VAR_045788	Missense	-	-	UniProt
TP53	P04637	p.Phe113Cys	VAR_005863	Missense	-	-	UniProt
TP53	P04637	p.Leu114Ser	rs781724995	missense variant	-	NC_000017.11:g.7676028A>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Leu114Ter	RCV000785466	nonsense	Ovarian Neoplasms	NC_000017.11:g.7676028A>T	ClinVar
TP53	P04637	p.Leu114Ser	RCV000537102	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676028A>G	ClinVar
TP53	P04637	p.His115Asn	rs1555526532	missense variant	-	NC_000017.11:g.7676026G>T	-
TP53	P04637	p.His115Asn	RCV000821053	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676026G>T	ClinVar
TP53	P04637	p.His115Arg	RCV000575197	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676025T>C	ClinVar
TP53	P04637	p.His115Arg	RCV000161021	missense variant	-	NC_000017.11:g.7676025T>C	ClinVar
TP53	P04637	p.His115Arg	RCV000696891	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676025T>C	ClinVar
TP53	P04637	p.His115Arg	rs730881996	missense variant	-	NC_000017.11:g.7676025T>C	-
TP53	P04637	p.His115Asn	RCV000576064	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676026G>T	ClinVar
TP53	P04637	p.His115Tyr	VAR_044688	Missense	-	-	UniProt
TP53	P04637	p.Ser116Ter	RCV000657463	frameshift	-	NC_000017.11:g.7676023_7676029dup	ClinVar
TP53	P04637	p.Ser116Ala	rs989692988	missense variant	-	NC_000017.11:g.7676023A>C	gnomAD
TP53	P04637	p.Ser116Cys	VAR_044689	Missense	-	-	UniProt
TP53	P04637	p.Ser116Phe	VAR_044690	Missense	-	-	UniProt
TP53	P04637	p.Ser116Pro	VAR_044691	Missense	-	-	UniProt
TP53	P04637	p.Gly117Arg	RCV000565337	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676020C>T	ClinVar
TP53	P04637	p.Gly117Glu	rs755238756	missense variant	-	NC_000017.11:g.7676019C>T	ExAC,gnomAD
TP53	P04637	p.Gly117Glu	rs755238756	missense variant	-	NC_000017.11:g.7676019C>T	UniProt,dbSNP
TP53	P04637	p.Gly117Glu	VAR_044692	missense variant	-	NC_000017.11:g.7676019C>T	UniProt
TP53	P04637	p.Gly117Ala	rs755238756	missense variant	-	NC_000017.11:g.7676019C>G	ExAC,gnomAD
TP53	P04637	p.Gly117Arg	rs1555526518	missense variant	-	NC_000017.11:g.7676020C>T	-
TP53	P04637	p.Gly117Arg	rs1555526518	missense variant	-	NC_000017.11:g.7676020C>T	UniProt,dbSNP
TP53	P04637	p.Gly117Arg	VAR_044693	missense variant	-	NC_000017.11:g.7676020C>T	UniProt
TP53	P04637	p.Thr118Ile	rs1064794141	missense variant	-	NC_000017.11:g.7676016G>A	-
TP53	P04637	p.Thr118Ile	RCV000484765	missense variant	-	NC_000017.11:g.7676016G>A	ClinVar
TP53	P04637	p.Thr118Ile	RCV000569220	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676016G>A	ClinVar
TP53	P04637	p.Thr118Ile	RCV000526166	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676016G>A	ClinVar
TP53	P04637	p.Thr118Ala	VAR_044694	Missense	-	-	UniProt
TP53	P04637	p.Thr118Arg	VAR_044696	Missense	-	-	UniProt
TP53	P04637	p.Ala119Pro	RCV000567984	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676014C>G	ClinVar
TP53	P04637	p.Ala119Pro	rs1555526506	missense variant	-	NC_000017.11:g.7676014C>G	-
TP53	P04637	p.Ala119Thr	VAR_044698	Missense	-	-	UniProt
TP53	P04637	p.Ala119Asp	VAR_044697	Missense	-	-	UniProt
TP53	P04637	p.Lys120Gln	rs121912658	missense variant	-	NC_000017.11:g.7676011T>G	UniProt,dbSNP
TP53	P04637	p.Lys120Gln	VAR_044701	missense variant	-	NC_000017.11:g.7676011T>G	UniProt
TP53	P04637	p.Lys120Ter	RCV000013158	nonsense	Li-Fraumeni-like syndrome (LFL)	NC_000017.11:g.7676011T>A	ClinVar
TP53	P04637	p.Lys120Gln	RCV000478911	missense variant	-	NC_000017.11:g.7676011T>G	ClinVar
TP53	P04637	p.Lys120Glu	RCV000213049	missense variant	-	NC_000017.11:g.7676011T>C	ClinVar
TP53	P04637	p.Lys120Glu	rs121912658	missense variant	-	NC_000017.11:g.7676011T>C	UniProt,dbSNP
TP53	P04637	p.Lys120Glu	VAR_044699	missense variant	-	NC_000017.11:g.7676011T>C	UniProt
TP53	P04637	p.Lys120Met	VAR_044700	Missense	-	-	UniProt
TP53	P04637	p.Lys120Arg	VAR_044702	Missense	-	-	UniProt
TP53	P04637	p.Ser121Ter	RCV000785255	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675999_7676009del	ClinVar
TP53	P04637	p.Ser121Phe	VAR_044703	Missense	-	-	UniProt
TP53	P04637	p.Val122Ter	RCV000824056	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676003_7676004CA[1]	ClinVar
TP53	P04637	p.Val122Ter	RCV000785538	frameshift	Ovarian Neoplasms	NC_000017.11:g.7676003_7676004CA[1]	ClinVar
TP53	P04637	p.Val122Met	RCV000581285	missense variant	-	NC_000017.11:g.7676005C>T	ClinVar
TP53	P04637	p.Val122Met	RCV000129460	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676005C>T	ClinVar
TP53	P04637	p.Val122Met	RCV000206482	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676005C>T	ClinVar
TP53	P04637	p.Val122Ter	RCV000115720	frameshift	-	NC_000017.11:g.7676003_7676004CA[1]	ClinVar
TP53	P04637	p.Val122Met	rs587781495	missense variant	-	NC_000017.11:g.7676005C>T	-
TP53	P04637	p.Val122Ter	RCV000494892	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7676010_7676040dup	ClinVar
TP53	P04637	p.Val122Leu	VAR_044704	Missense	-	-	UniProt
TP53	P04637	p.Thr123Ile	RCV000572422	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7676001G>A	ClinVar
TP53	P04637	p.Thr123Ile	rs1555526486	missense variant	-	NC_000017.11:g.7676001G>A	-
TP53	P04637	p.Thr123Ile	rs1555526486	missense variant	-	NC_000017.11:g.7676001G>A	UniProt,dbSNP
TP53	P04637	p.Thr123Ile	VAR_044705	missense variant	-	NC_000017.11:g.7676001G>A	UniProt
TP53	P04637	p.Thr123Asn	VAR_044706	Missense	-	-	UniProt
TP53	P04637	p.Cys124Gly	rs730881997	missense variant	-	NC_000017.11:g.7675999A>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys124Ter	RCV000785247	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675998dup	ClinVar
TP53	P04637	p.Cys124Ter	RCV000541004	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675997G>T	ClinVar
TP53	P04637	p.Cys124Ser	RCV000161022	missense variant	-	NC_000017.11:g.7675999A>T	ClinVar
TP53	P04637	p.Cys124Gly	RCV000217878	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675999A>C	ClinVar
TP53	P04637	p.Cys124Ser	RCV000574455	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675999A>T	ClinVar
TP53	P04637	p.Cys124Ser	rs730881997	missense variant	-	NC_000017.11:g.7675999A>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys124Ter	rs1555526478	stop gained	-	NC_000017.11:g.7675997G>T	-
TP53	P04637	p.Cys124Trp	VAR_044710	Missense	-	-	UniProt
TP53	P04637	p.Cys124Tyr	VAR_044711	Missense	-	-	UniProt
TP53	P04637	p.Cys124Arg	VAR_044708	Missense	-	-	UniProt
TP53	P04637	p.Thr125Arg	RCV000430321	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000428977	missense variant	Neoplasm of brain	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000423368	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000432131	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	rs786201057	missense variant	-	NC_000017.11:g.7675995G>C	gnomAD
TP53	P04637	p.Thr125Lys	rs786201057	missense variant	-	NC_000017.11:g.7675995G>T	UniProt,dbSNP
TP53	P04637	p.Thr125Lys	VAR_044713	missense variant	-	NC_000017.11:g.7675995G>T	UniProt
TP53	P04637	p.Thr125Pro	RCV000427158	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000439620	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000433906	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000423200	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000422630	missense variant	-	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000425049	missense variant	Neoplasm of the breast	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000442185	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000442101	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000418295	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000434887	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000417666	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000428307	missense variant	-	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000426486	missense variant	Glioblastoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000439813	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000429194	missense variant	Small cell lung cancer	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000437835	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000436394	missense variant	-	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000434566	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Arg	RCV000440402	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000424710	missense variant	Small cell lung cancer	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000436286	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Lys	RCV000197507	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675995G>T	ClinVar
TP53	P04637	p.Thr125Arg	RCV000419630	missense variant	Neoplasm of the breast	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Met	RCV000237013	missense variant	-	NC_000017.11:g.7675995G>A	ClinVar
TP53	P04637	p.Thr125Arg	RCV000429727	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000492090	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000442028	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000419385	missense variant	Glioblastoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000425385	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Pro	rs1057520003	missense variant	-	NC_000017.11:g.7675996T>G	UniProt,dbSNP
TP53	P04637	p.Thr125Pro	VAR_044714	missense variant	-	NC_000017.11:g.7675996T>G	UniProt
TP53	P04637	p.Thr125Pro	rs1057520003	missense variant	-	NC_000017.11:g.7675996T>G	-
TP53	P04637	p.Thr125Met	rs786201057	missense variant	-	NC_000017.11:g.7675995G>A	UniProt,dbSNP
TP53	P04637	p.Thr125Met	VAR_005864	missense variant	-	NC_000017.11:g.7675995G>A	UniProt
TP53	P04637	p.Thr125Arg	rs786201057	missense variant	-	NC_000017.11:g.7675995G>C	UniProt,dbSNP
TP53	P04637	p.Thr125Arg	VAR_044715	missense variant	-	NC_000017.11:g.7675995G>C	UniProt
TP53	P04637	p.Thr125Met	rs786201057	missense variant	-	NC_000017.11:g.7675995G>A	gnomAD
TP53	P04637	p.Thr125Lys	rs786201057	missense variant	-	NC_000017.11:g.7675995G>T	gnomAD
TP53	P04637	p.Thr125Pro	RCV000432449	missense variant	Neoplasm of brain	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Pro	RCV000443332	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675996T>G	ClinVar
TP53	P04637	p.Thr125Arg	RCV000436088	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000424026	missense variant	-	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000442755	missense variant	-	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000423812	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000436638	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000440628	missense variant	-	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000434737	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Arg	RCV000442833	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675995G>C	ClinVar
TP53	P04637	p.Thr125Ala	VAR_044712	Missense	-	-	UniProt
TP53	P04637	p.Tyr126Asn	RCV000801059	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675236A>T	ClinVar
TP53	P04637	p.Tyr126Asn	RCV000492304	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675236A>T	ClinVar
TP53	P04637	p.Tyr126Asp	RCV000255685	missense variant	-	NC_000017.11:g.7675236A>C	ClinVar
TP53	P04637	p.Tyr126Asp	rs886039483	missense variant	-	NC_000017.11:g.7675236A>C	-
TP53	P04637	p.Tyr126Cys	RCV000785493	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675235T>C	ClinVar
TP53	P04637	p.Tyr126Ter	RCV000785318	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675236del	ClinVar
TP53	P04637	p.Tyr126Ter	RCV000702157	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675234G>C	ClinVar
TP53	P04637	p.Tyr126Cys	rs1555526335	missense variant	-	NC_000017.11:g.7675235T>C	UniProt,dbSNP
TP53	P04637	p.Tyr126Cys	VAR_044716	missense variant	-	NC_000017.11:g.7675235T>C	UniProt
TP53	P04637	p.Tyr126Asp	RCV000785482	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675236A>C	ClinVar
TP53	P04637	p.Tyr126Gly	VAR_045789	Missense	-	-	UniProt
TP53	P04637	p.Tyr126His	VAR_044718	Missense	-	-	UniProt
TP53	P04637	p.Tyr126Ser	VAR_044719	Missense	-	-	UniProt
TP53	P04637	p.Tyr126Phe	VAR_044717	Missense	-	-	UniProt
TP53	P04637	p.Ser127Cys	RCV000205404	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675232G>C	ClinVar
TP53	P04637	p.Ser127Phe	RCV000785332	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675232G>A	ClinVar
TP53	P04637	p.Ser127Phe	RCV000161024	missense variant	-	NC_000017.11:g.7675232G>A	ClinVar
TP53	P04637	p.Ser127Thr	VAR_044722	Missense	-	-	UniProt
TP53	P04637	p.Ser127Pro	VAR_044721	Missense	-	-	UniProt
TP53	P04637	p.Ser127Tyr	VAR_044723	Missense	-	-	UniProt
TP53	P04637	p.Pro128Thr	rs1555526327	missense variant	-	NC_000017.11:g.7675230G>T	-
TP53	P04637	p.Pro128Thr	RCV000569462	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675230G>T	ClinVar
TP53	P04637	p.Pro128Thr	RCV000633349	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675230G>T	ClinVar
TP53	P04637	p.Pro128Ala	VAR_044724	Missense	-	-	UniProt
TP53	P04637	p.Pro128Ser	VAR_005868	Missense	-	-	UniProt
TP53	P04637	p.Pro128Leu	VAR_044725	Missense	-	-	UniProt
TP53	P04637	p.Pro128Arg	VAR_044726	Missense	-	-	UniProt
TP53	P04637	p.Ala129Thr	rs1438095083	missense variant	-	NC_000017.11:g.7675227C>T	UniProt,dbSNP
TP53	P04637	p.Ala129Thr	VAR_044728	missense variant	-	NC_000017.11:g.7675227C>T	UniProt
TP53	P04637	p.Ala129Thr	rs1438095083	missense variant	-	NC_000017.11:g.7675227C>T	TOPMed
TP53	P04637	p.Ala129Val	rs137852792	missense variant	-	NC_000017.11:g.7675226G>A	TOPMed
TP53	P04637	p.Ala129Gly	RCV000557322	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675226G>C	ClinVar
TP53	P04637	p.Ala129Thr	RCV000567140	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675227C>T	ClinVar
TP53	P04637	p.Ala129Val	RCV000119793	missense variant	Familial cancer of breast	NC_000017.11:g.7675226G>A	ClinVar
TP53	P04637	p.Ala129Gly	rs137852792	missense variant	-	NC_000017.11:g.7675226G>C	TOPMed
TP53	P04637	p.Ala129Val	rs137852792	missense variant	-	NC_000017.11:g.7675226G>A	UniProt,dbSNP
TP53	P04637	p.Ala129Val	VAR_044729	missense variant	-	NC_000017.11:g.7675226G>A	UniProt
TP53	P04637	p.Ala129Asp	VAR_005869	Missense	-	-	UniProt
TP53	P04637	p.Ala129Gly	VAR_044727	Missense	-	-	UniProt
TP53	P04637	p.Leu130Val	rs863224683	missense variant	-	NC_000017.11:g.7675224G>C	-
TP53	P04637	p.Leu130Val	rs863224683	missense variant	-	NC_000017.11:g.7675224G>C	UniProt,dbSNP
TP53	P04637	p.Leu130Val	VAR_044734	missense variant	-	NC_000017.11:g.7675224G>C	UniProt
TP53	P04637	p.Leu130Pro	RCV000492142	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675223A>G	ClinVar
TP53	P04637	p.Leu130Val	RCV000565366	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675224G>C	ClinVar
TP53	P04637	p.Leu130Phe	RCV000571787	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675224G>A	ClinVar
TP53	P04637	p.Leu130Pro	rs1131691013	missense variant	-	NC_000017.11:g.7675223A>G	UniProt,dbSNP
TP53	P04637	p.Leu130Pro	VAR_044733	missense variant	-	NC_000017.11:g.7675223A>G	UniProt
TP53	P04637	p.Leu130Pro	rs1131691013	missense variant	-	NC_000017.11:g.7675223A>G	-
TP53	P04637	p.Leu130Phe	rs863224683	missense variant	-	NC_000017.11:g.7675224G>A	-
TP53	P04637	p.Leu130Phe	rs863224683	missense variant	-	NC_000017.11:g.7675224G>A	UniProt,dbSNP
TP53	P04637	p.Leu130Phe	VAR_044730	missense variant	-	NC_000017.11:g.7675224G>A	UniProt
TP53	P04637	p.Leu130Val	RCV000759374	missense variant	-	NC_000017.11:g.7675224G>C	ClinVar
TP53	P04637	p.Leu130Val	RCV000536061	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675224G>C	ClinVar
TP53	P04637	p.Leu130Phe	RCV000200055	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675224G>A	ClinVar
TP53	P04637	p.Leu130Ile	VAR_044732	Missense	-	-	UniProt
TP53	P04637	p.Leu130His	VAR_044731	Missense	-	-	UniProt
TP53	P04637	p.Leu130Arg	VAR_005870	Missense	-	-	UniProt
TP53	P04637	p.Asn131Ile	RCV000821569	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675220T>A	ClinVar
TP53	P04637	p.Asn131Lys	RCV000492741	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675219G>T	ClinVar
TP53	P04637	p.Asn131Tyr	RCV000130751	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675221T>A	ClinVar
TP53	P04637	p.Asn131Lys	RCV000465360	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675219G>T	ClinVar
TP53	P04637	p.Asn131Tyr	rs587782160	missense variant	-	NC_000017.11:g.7675221T>A	-
TP53	P04637	p.Asn131Tyr	rs587782160	missense variant	-	NC_000017.11:g.7675221T>A	UniProt,dbSNP
TP53	P04637	p.Asn131Tyr	VAR_044739	missense variant	-	NC_000017.11:g.7675221T>A	UniProt
TP53	P04637	p.Asn131Ile	rs1131691037	missense variant	-	NC_000017.11:g.7675220T>A	-
TP53	P04637	p.Asn131Ile	rs1131691037	missense variant	-	NC_000017.11:g.7675220T>A	UniProt,dbSNP
TP53	P04637	p.Asn131Ile	VAR_044737	missense variant	-	NC_000017.11:g.7675220T>A	UniProt
TP53	P04637	p.Asn131Lys	rs769270327	missense variant	-	NC_000017.11:g.7675219G>T	UniProt,dbSNP
TP53	P04637	p.Asn131Lys	VAR_005872	missense variant	-	NC_000017.11:g.7675219G>T	UniProt
TP53	P04637	p.Asn131Lys	rs769270327	missense variant	-	NC_000017.11:g.7675219G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Asn131Lys	RCV000236166	missense variant	-	NC_000017.11:g.7675219G>T	ClinVar
TP53	P04637	p.Asn131Ter	RCV000785315	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675219del	ClinVar
TP53	P04637	p.Asn131Ser	VAR_005871	Missense	-	-	UniProt
TP53	P04637	p.Asn131His	VAR_044736	Missense	-	-	UniProt
TP53	P04637	p.Asn131Asp	VAR_044735	Missense	-	-	UniProt
TP53	P04637	p.Asn131Thr	VAR_044738	Missense	-	-	UniProt
TP53	P04637	p.Lys132Asn	RCV000434424	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	rs866775781	missense variant	-	NC_000017.11:g.7675216C>G	-
TP53	P04637	p.Lys132Thr	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>G	gnomAD
TP53	P04637	p.Lys132Met	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>A	UniProt,dbSNP
TP53	P04637	p.Lys132Met	VAR_005873	missense variant	-	NC_000017.11:g.7675217T>A	UniProt
TP53	P04637	p.Lys132Asn	rs866775781	missense variant	-	NC_000017.11:g.7675216C>A	-
TP53	P04637	p.Lys132Thr	RCV000433243	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000422403	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000423393	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Met	RCV000546420	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675217T>A	ClinVar
TP53	P04637	p.Lys132Thr	RCV000424547	missense variant	-	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Arg	RCV000471183	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675217T>C	ClinVar
TP53	P04637	p.Lys132Thr	RCV000442106	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000420694	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000437675	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000435461	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000433123	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000443063	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000429238	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000442713	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000427528	missense variant	-	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000432219	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000419339	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000439586	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000795096	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675216C>A	ClinVar
TP53	P04637	p.Lys132Asn	RCV000430184	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000432417	missense variant	-	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000430063	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000422634	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000427056	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000442346	missense variant	Neoplasm of brain	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000437720	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000442734	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000432114	missense variant	Neoplasm of brain	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000422568	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000439934	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000434062	missense variant	Neoplasm of the breast	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Glu	RCV000468362	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675218T>C	ClinVar
TP53	P04637	p.Lys132Gln	RCV000440130	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000421029	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000442639	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Arg	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>C	gnomAD
TP53	P04637	p.Lys132Met	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>A	gnomAD
TP53	P04637	p.Lys132Thr	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>G	UniProt,dbSNP
TP53	P04637	p.Lys132Thr	VAR_044743	missense variant	-	NC_000017.11:g.7675217T>G	UniProt
TP53	P04637	p.Lys132Glu	rs747342068	missense variant	-	NC_000017.11:g.7675218T>C	ExAC,gnomAD
TP53	P04637	p.Lys132Gln	RCV000438684	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000436873	missense variant	Glioblastoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000432840	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000427319	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000419226	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Gln	RCV000419400	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675218T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000427017	missense variant	Neoplasm of the breast	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000437910	missense variant	Neoplasm of brain	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000419605	missense variant	Glioblastoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000425633	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000442467	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Thr	RCV000430299	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675217T>G	ClinVar
TP53	P04637	p.Lys132Arg	rs1057519996	missense variant	-	NC_000017.11:g.7675217T>C	UniProt,dbSNP
TP53	P04637	p.Lys132Arg	VAR_044742	missense variant	-	NC_000017.11:g.7675217T>C	UniProt
TP53	P04637	p.Lys132Gln	rs747342068	missense variant	-	NC_000017.11:g.7675218T>G	ExAC,gnomAD
TP53	P04637	p.Lys132Asn	RCV000440843	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000439834	missense variant	Glioblastoma	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000421516	missense variant	Neoplasm of the breast	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Asn	RCV000424592	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675216C>G	ClinVar
TP53	P04637	p.Lys132Ter	RCV000166969	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675207_7675222del	ClinVar
TP53	P04637	p.Lys132Leu	VAR_045790	Missense	-	-	UniProt
TP53	P04637	p.Lys132Trp	VAR_045791	Missense	-	-	UniProt
TP53	P04637	p.Lys132_Met133delinsAsnLeu	VAR_047159	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met133Ile	rs1064795139	missense variant	-	NC_000017.11:g.7675213C>T	UniProt,dbSNP
TP53	P04637	p.Met133Ile	VAR_044744	missense variant	-	NC_000017.11:g.7675213C>T	UniProt
TP53	P04637	p.Met133Ile	rs1064795139	missense variant	-	NC_000017.11:g.7675213C>T	gnomAD
TP53	P04637	p.Met133Thr	RCV000013151	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675214A>G	ClinVar
TP53	P04637	p.Met133Ile	RCV000662907	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675213C>T	ClinVar
TP53	P04637	p.Met133Ile	RCV000484833	missense variant	-	NC_000017.11:g.7675213C>T	ClinVar
TP53	P04637	p.Met133Val	rs1057280220	missense variant	-	NC_000017.11:g.7675215T>C	TOPMed,gnomAD
TP53	P04637	p.Met133Val	rs1057280220	missense variant	-	NC_000017.11:g.7675215T>C	UniProt,dbSNP
TP53	P04637	p.Met133Val	VAR_044748	missense variant	-	NC_000017.11:g.7675215T>C	UniProt
TP53	P04637	p.Met133Val	RCV000633342	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675215T>C	ClinVar
TP53	P04637	p.Met133Thr	RCV000492130	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675214A>G	ClinVar
TP53	P04637	p.Met133Thr	rs28934873	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675214A>G	UniProt,dbSNP
TP53	P04637	p.Met133Thr	VAR_005875	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675214A>G	UniProt
TP53	P04637	p.Met133Thr	rs28934873	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7675214A>G	-
TP53	P04637	p.Met133Leu	VAR_044746	Missense	-	-	UniProt
TP53	P04637	p.Met133Lys	VAR_044745	Missense	-	-	UniProt
TP53	P04637	p.Met133Arg	VAR_044747	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Phe134Cys	RCV000656580	missense variant	-	NC_000017.11:g.7675211A>C	ClinVar
TP53	P04637	p.Phe134Cys	RCV000214547	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675211A>C	ClinVar
TP53	P04637	p.Phe134Leu	rs267605077	missense variant	-	NC_000017.11:g.7675212A>G	-
TP53	P04637	p.Phe134Ile	rs267605077	missense variant	-	NC_000017.11:g.7675212A>T	-
TP53	P04637	p.Phe134Cys	rs780442292	missense variant	-	NC_000017.11:g.7675211A>C	ExAC,gnomAD
TP53	P04637	p.Phe134Ile	RCV000565274	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675212A>T	ClinVar
TP53	P04637	p.Phe134Ter	RCV000582839	frameshift	-	NC_000017.11:g.7675211_7675212insC	ClinVar
TP53	P04637	p.Phe134Ser	VAR_044751	Missense	-	-	UniProt
TP53	P04637	p.Phe134Ile	VAR_044750	Missense	-	-	UniProt
TP53	P04637	p.Phe134Val	VAR_044752	Missense	-	-	UniProt
TP53	P04637	p.Cys135Trp	rs1057519976	missense variant	-	NC_000017.11:g.7675207G>C	UniProt,dbSNP
TP53	P04637	p.Cys135Trp	VAR_044755	missense variant	-	NC_000017.11:g.7675207G>C	UniProt
TP53	P04637	p.Cys135Trp	RCV000439451	missense variant	-	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000432610	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Ter	RCV000492493	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675207_7675209delinsCC	ClinVar
TP53	P04637	p.Cys135Arg	RCV000426036	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000423274	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000425388	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000422903	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000430892	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Trp	RCV000417767	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000444995	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000433604	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000423943	missense variant	Neoplasm of the breast	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000441628	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000441192	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000440105	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000432245	missense variant	Neoplasm of brain	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Ser	RCV000814994	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675209A>T	ClinVar
TP53	P04637	p.Cys135Trp	RCV000420220	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000418091	missense variant	Neoplasm of brain	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000429841	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Phe	RCV000426876	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000436440	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000435797	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000434318	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000422242	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000423651	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000438861	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000439440	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000130396	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000425788	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000418582	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000437052	missense variant	Neoplasm of the breast	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000421166	missense variant	-	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000431855	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000427781	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000417503	missense variant	Neoplasm of brain	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000438381	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000428180	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000428748	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000419337	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000444605	missense variant	-	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Phe	RCV000444308	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000581322	missense variant	-	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000429447	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000492398	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000430048	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000419825	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Tyr	RCV000444676	missense variant	Neoplasm of brain	NC_000017.11:g.7675208C>T	ClinVar
TP53	P04637	p.Cys135Phe	RCV000436707	missense variant	Neoplasm of the breast	NC_000017.11:g.7675208C>A	ClinVar
TP53	P04637	p.Cys135Arg	rs1057519975	missense variant	-	NC_000017.11:g.7675209A>G	UniProt,dbSNP
TP53	P04637	p.Cys135Arg	VAR_044754	missense variant	-	NC_000017.11:g.7675209A>G	UniProt
TP53	P04637	p.Cys135Ser	rs1057519975	missense variant	-	NC_000017.11:g.7675209A>T	UniProt,dbSNP
TP53	P04637	p.Cys135Ser	VAR_005876	missense variant	-	NC_000017.11:g.7675209A>T	UniProt
TP53	P04637	p.Cys135Phe	rs587781991	missense variant	-	NC_000017.11:g.7675208C>A	-
TP53	P04637	p.Cys135Gly	rs1057519975	missense variant	-	NC_000017.11:g.7675209A>C	-
TP53	P04637	p.Cys135Gly	rs1057519975	missense variant	-	NC_000017.11:g.7675209A>C	UniProt,dbSNP
TP53	P04637	p.Cys135Gly	VAR_044753	missense variant	-	NC_000017.11:g.7675209A>C	UniProt
TP53	P04637	p.Cys135Phe	rs587781991	missense variant	-	NC_000017.11:g.7675208C>A	UniProt,dbSNP
TP53	P04637	p.Cys135Phe	VAR_005877	missense variant	-	NC_000017.11:g.7675208C>A	UniProt
TP53	P04637	p.Cys135Arg	RCV000444209	missense variant	-	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000434979	missense variant	Neoplasm of the breast	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Arg	RCV000434656	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Arg	RCV000430504	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675209A>G	ClinVar
TP53	P04637	p.Cys135Trp	RCV000440498	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Trp	RCV000420893	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Gly	RCV000570655	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675209A>C	ClinVar
TP53	P04637	p.Cys135Trp	RCV000424924	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Trp	RCV000435704	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675207G>C	ClinVar
TP53	P04637	p.Cys135Tyr	rs587781991	missense variant	-	NC_000017.11:g.7675208C>T	-
TP53	P04637	p.Cys135Tyr	rs587781991	missense variant	-	NC_000017.11:g.7675208C>T	UniProt,dbSNP
TP53	P04637	p.Cys135Tyr	VAR_044756	missense variant	-	NC_000017.11:g.7675208C>T	UniProt
TP53	P04637	p.Cys135Thr	VAR_045792	Missense	-	-	UniProt
TP53	P04637	p.Gln136His	RCV000165874	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675204T>G	ClinVar
TP53	P04637	p.Gln136His	RCV000229644	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675204T>G	ClinVar
TP53	P04637	p.Gln136Pro	RCV000704458	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675205T>G	ClinVar
TP53	P04637	p.Gln136Glu	RCV000572692	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675206G>C	ClinVar
TP53	P04637	p.Gln136His	RCV000571644	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675204T>A	ClinVar
TP53	P04637	p.Gln136His	rs758781593	missense variant	-	NC_000017.11:g.7675204T>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln136His	rs758781593	missense variant	-	NC_000017.11:g.7675204T>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln136Glu	rs1555526268	missense variant	-	NC_000017.11:g.7675206G>C	-
TP53	P04637	p.Gln136Glu	rs1555526268	missense variant	-	NC_000017.11:g.7675206G>C	UniProt,dbSNP
TP53	P04637	p.Gln136Glu	VAR_005878	missense variant	-	NC_000017.11:g.7675206G>C	UniProt
TP53	P04637	p.Gln136Arg	VAR_044759	Missense	-	-	UniProt
TP53	P04637	p.Gln136Lys	VAR_005879	Missense	-	-	UniProt
TP53	P04637	p.Gln136Pro	VAR_044758	Missense	-	-	UniProt
TP53	P04637	p.Leu137Val	VAR_044762	Missense	-	-	UniProt
TP53	P04637	p.Leu137Met	VAR_044760	Missense	-	-	UniProt
TP53	P04637	p.Leu137Gln	VAR_005880	Missense	-	-	UniProt
TP53	P04637	p.Leu137Pro	VAR_044761	Missense	-	-	UniProt
TP53	P04637	p.Ala138Pro	rs28934875	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675200C>G	UniProt,dbSNP
TP53	P04637	p.Ala138Pro	VAR_005881	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675200C>G	UniProt
TP53	P04637	p.Ala138Val	RCV000813957	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675199G>A	ClinVar
TP53	P04637	p.Ala138Val	RCV000164195	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675199G>A	ClinVar
TP53	P04637	p.Ala138Val	rs750600586	missense variant	-	NC_000017.11:g.7675199G>A	ExAC,gnomAD
TP53	P04637	p.Ala138Val	rs750600586	missense variant	-	NC_000017.11:g.7675199G>A	UniProt,dbSNP
TP53	P04637	p.Ala138Val	VAR_033034	missense variant	-	NC_000017.11:g.7675199G>A	UniProt
TP53	P04637	p.Ala138Asp	rs750600586	missense variant	-	NC_000017.11:g.7675199G>T	ExAC,gnomAD
TP53	P04637	p.Ala138Asp	RCV000633392	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675199G>T	ClinVar
TP53	P04637	p.Ala138Pro	RCV000461233	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675200C>G	ClinVar
TP53	P04637	p.Ala138Ser	VAR_044764	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Ala138Thr	VAR_044765	Missense	-	-	UniProt
TP53	P04637	p.Ala138Asp	VAR_044763	Missense	-	-	UniProt
TP53	P04637	p.Lys139Ter	RCV000785252	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675197T>A	ClinVar
TP53	P04637	p.Lys139Ter	RCV000119794	frameshift	Familial cancer of breast	NC_000017.11:g.7675199del	ClinVar
TP53	P04637	p.Lys139Asn	RCV000709406	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675195C>A	ClinVar
TP53	P04637	p.Lys139Glu	rs1212996409	missense variant	-	NC_000017.11:g.7675197T>C	TOPMed
TP53	P04637	p.Lys139Glu	rs1212996409	missense variant	-	NC_000017.11:g.7675197T>C	UniProt,dbSNP
TP53	P04637	p.Lys139Glu	VAR_044766	missense variant	-	NC_000017.11:g.7675197T>C	UniProt
TP53	P04637	p.Lys139Arg	VAR_044768	Missense	-	-	UniProt
TP53	P04637	p.Lys139Asn	VAR_005882	Missense	-	-	UniProt
TP53	P04637	p.Lys139Thr	VAR_044769	Missense	-	-	UniProt
TP53	P04637	p.Lys139Gln	VAR_044767	Missense	-	-	UniProt
TP53	P04637	p.Thr140Asn	RCV000165423	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675193G>T	ClinVar
TP53	P04637	p.Thr140Asn	rs786202561	missense variant	-	NC_000017.11:g.7675193G>T	UniProt,dbSNP
TP53	P04637	p.Thr140Asn	VAR_044772	missense variant	-	NC_000017.11:g.7675193G>T	UniProt
TP53	P04637	p.Thr140Asn	rs786202561	missense variant	-	NC_000017.11:g.7675193G>T	-
TP53	P04637	p.Thr140Pro	VAR_044773	Missense	-	-	UniProt
TP53	P04637	p.Thr140Ala	VAR_044770	Missense	-	-	UniProt
TP53	P04637	p.Thr140Ser	VAR_044774	Missense	-	-	UniProt
TP53	P04637	p.Thr140Ile	VAR_044771	Missense	-	-	UniProt
TP53	P04637	p.Cys141Tyr	rs587781288	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675190C>T	UniProt,dbSNP
TP53	P04637	p.Cys141Tyr	VAR_005886	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675190C>T	UniProt
TP53	P04637	p.Cys141Trp	rs1057519977	missense variant	-	NC_000017.11:g.7675189G>C	UniProt,dbSNP
TP53	P04637	p.Cys141Trp	VAR_044777	missense variant	-	NC_000017.11:g.7675189G>C	UniProt
TP53	P04637	p.Cys141Arg	RCV000430017	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Ser	RCV000422574	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000432161	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Arg	RCV000441312	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Gly	RCV000419137	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Gly	RCV000427661	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Gly	RCV000420961	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000421892	missense variant	Neoplasm of brain	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Gly	RCV000426677	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000442038	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000437414	missense variant	Neoplasm of the breast	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Ser	RCV000417913	missense variant	Neoplasm of the breast	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Ser	RCV000430556	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000436190	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Arg	RCV000423623	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Arg	RCV000418678	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Ser	RCV000438490	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Ser	RCV000428237	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Gly	RCV000444521	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000432852	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Gly	RCV000438636	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Gly	RCV000432969	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Arg	RCV000431037	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Ser	RCV000433900	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000440220	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Trp	RCV000467641	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675189G>C	ClinVar
TP53	P04637	p.Cys141Gly	RCV000437911	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Phe	RCV000433302	missense variant	Neoplasm of the breast	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000427605	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Arg	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>G	UniProt,dbSNP
TP53	P04637	p.Cys141Arg	VAR_044775	missense variant	-	NC_000017.11:g.7675191A>G	UniProt
TP53	P04637	p.Cys141Arg	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>G	-
TP53	P04637	p.Cys141Phe	RCV000444376	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000436176	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000417404	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000435499	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000418478	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000423030	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Ter	RCV000504610	frameshift	Neoplasm of the breast	NC_000017.11:g.7675192_7675196dup	ClinVar
TP53	P04637	p.Cys141Tyr	RCV000128975	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675190C>T	ClinVar
TP53	P04637	p.Cys141Phe	RCV000445236	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Tyr	RCV000472876	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675190C>T	ClinVar
TP53	P04637	p.Cys141Phe	RCV000429427	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000437866	missense variant	Neoplasm of brain	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	RCV000425219	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675190C>A	ClinVar
TP53	P04637	p.Cys141Phe	rs587781288	missense variant	-	NC_000017.11:g.7675190C>A	UniProt,dbSNP
TP53	P04637	p.Cys141Phe	VAR_005885	missense variant	-	NC_000017.11:g.7675190C>A	UniProt
TP53	P04637	p.Cys141Gly	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>C	-
TP53	P04637	p.Cys141Gly	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>C	UniProt,dbSNP
TP53	P04637	p.Cys141Gly	VAR_005884	missense variant	-	NC_000017.11:g.7675191A>C	UniProt
TP53	P04637	p.Cys141Ser	RCV000439533	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Arg	RCV000419723	missense variant	Neoplasm of brain	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Gly	RCV000432339	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Arg	RCV000425407	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Ser	RCV000420314	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Gly	RCV000444835	missense variant	Neoplasm of brain	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	RCV000439057	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675191A>T	ClinVar
TP53	P04637	p.Cys141Gly	RCV000425541	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Arg	RCV000420817	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675191A>G	ClinVar
TP53	P04637	p.Cys141Gly	RCV000436820	missense variant	Neoplasm of the breast	NC_000017.11:g.7675191A>C	ClinVar
TP53	P04637	p.Cys141Ser	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>T	UniProt,dbSNP
TP53	P04637	p.Cys141Ser	VAR_044776	missense variant	-	NC_000017.11:g.7675191A>T	UniProt
TP53	P04637	p.Cys141Ser	rs1057519978	missense variant	-	NC_000017.11:g.7675191A>T	-
TP53	P04637	p.Cys141Ala	VAR_045793	Missense	-	-	UniProt
TP53	P04637	p.Pro142Leu	rs779196500	missense variant	-	NC_000017.11:g.7675187G>A	ExAC,gnomAD
TP53	P04637	p.Pro142Leu	rs779196500	missense variant	-	NC_000017.11:g.7675187G>A	UniProt,dbSNP
TP53	P04637	p.Pro142Leu	VAR_044780	missense variant	-	NC_000017.11:g.7675187G>A	UniProt
TP53	P04637	p.Pro142Thr	VAR_044783	Missense	-	-	UniProt
TP53	P04637	p.Pro142Phe	VAR_045794	Missense	-	-	UniProt
TP53	P04637	p.Pro142His	VAR_044779	Missense	-	-	UniProt
TP53	P04637	p.Pro142Arg	VAR_044781	Missense	-	-	UniProt
TP53	P04637	p.Pro142Ser	VAR_044782	Missense	-	-	UniProt
TP53	P04637	p.Pro142Ala	VAR_044778	Missense	-	-	UniProt
TP53	P04637	p.Val143Leu	rs587782620	missense variant	-	NC_000017.11:g.7675185C>A	UniProt,dbSNP
TP53	P04637	p.Val143Leu	VAR_044786	missense variant	-	NC_000017.11:g.7675185C>A	UniProt
TP53	P04637	p.Val143Gly	rs1555526241	missense variant	-	NC_000017.11:g.7675184A>C	UniProt,dbSNP
TP53	P04637	p.Val143Gly	VAR_044785	missense variant	-	NC_000017.11:g.7675184A>C	UniProt
TP53	P04637	p.Val143Gly	rs1555526241	missense variant	-	NC_000017.11:g.7675184A>C	-
TP53	P04637	p.Val143Leu	RCV000165206	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675185C>A	ClinVar
TP53	P04637	p.Val143Met	RCV000413546	missense variant	Neoplasm of the breast	NC_000017.11:g.7675185C>T	ClinVar
TP53	P04637	p.Val143Met	rs587782620	missense variant	-	NC_000017.11:g.7675185C>T	UniProt,dbSNP
TP53	P04637	p.Val143Met	VAR_044787	missense variant	-	NC_000017.11:g.7675185C>T	UniProt
TP53	P04637	p.Val143Gly	RCV000562247	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675184A>C	ClinVar
TP53	P04637	p.Val143Ala	VAR_005887	Missense	-	-	UniProt
TP53	P04637	p.Val143Glu	VAR_044784	Missense	-	-	UniProt
TP53	P04637	p.Gln144Leu	RCV000443056	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144His	RCV000419148	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144His	RCV000429945	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144His	rs786201419	missense variant	-	NC_000017.11:g.7675180C>A	TOPMed
TP53	P04637	p.Gln144Leu	rs786203071	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675181T>A	UniProt,dbSNP
TP53	P04637	p.Gln144Leu	VAR_044790	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675181T>A	UniProt
TP53	P04637	p.Gln144His	RCV000430092	missense variant	-	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000423654	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000425167	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000435123	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Pro	RCV000166212	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675181T>G	ClinVar
TP53	P04637	p.Gln144His	RCV000425946	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144His	RCV000437256	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000434320	missense variant	-	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000443135	missense variant	Neoplasm of the breast	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000434521	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144His	RCV000441498	missense variant	Neoplasm of the breast	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144Ter	RCV000785285	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675182G>A	ClinVar
TP53	P04637	p.Gln144Pro	rs786203071	missense variant	-	NC_000017.11:g.7675181T>G	UniProt,dbSNP
TP53	P04637	p.Gln144Pro	VAR_005888	missense variant	-	NC_000017.11:g.7675181T>G	UniProt
TP53	P04637	p.Gln144His	rs786201419	missense variant	-	NC_000017.11:g.7675180C>A	UniProt,dbSNP
TP53	P04637	p.Gln144His	VAR_044788	missense variant	-	NC_000017.11:g.7675180C>A	UniProt
TP53	P04637	p.Gln144Ter	rs757274881	stop gained	-	NC_000017.11:g.7675182G>A	ExAC,gnomAD
TP53	P04637	p.Gln144His	RCV000418508	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144Leu	RCV000443744	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675181T>A	ClinVar
TP53	P04637	p.Gln144His	RCV000435752	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675180C>A	ClinVar
TP53	P04637	p.Gln144Lys	VAR_044789	Missense	-	-	UniProt
TP53	P04637	p.Gln144Arg	VAR_044791	Missense	-	-	UniProt
TP53	P04637	p.Leu145Pro	RCV000785265	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675178A>G	ClinVar
TP53	P04637	p.Leu145Gln	RCV000565971	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675178A>T	ClinVar
TP53	P04637	p.Leu145Pro	rs587782197	missense variant	-	NC_000017.11:g.7675178A>G	UniProt,dbSNP
TP53	P04637	p.Leu145Pro	VAR_005889	missense variant	-	NC_000017.11:g.7675178A>G	UniProt
TP53	P04637	p.Leu145Pro	rs587782197	missense variant	-	NC_000017.11:g.7675178A>G	gnomAD
TP53	P04637	p.Leu145Gln	rs587782197	missense variant	-	NC_000017.11:g.7675178A>T	gnomAD
TP53	P04637	p.Leu145Arg	VAR_044793	Missense	-	-	UniProt
TP53	P04637	p.Leu145Val	VAR_044794	Missense	-	-	UniProt
TP53	P04637	p.Leu145Gln	VAR_005890	Missense	-	-	UniProt
TP53	P04637	p.Leu145Met	VAR_044792	Missense	-	-	UniProt
TP53	P04637	p.Trp146Gly	RCV000166204	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675176A>C	ClinVar
TP53	P04637	p.Trp146Ter	RCV000633358	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675174C>T	ClinVar
TP53	P04637	p.Trp146Gly	rs786203064	missense variant	-	NC_000017.11:g.7675176A>C	-
TP53	P04637	p.Trp146Gly	rs786203064	missense variant	-	NC_000017.11:g.7675176A>C	UniProt,dbSNP
TP53	P04637	p.Trp146Gly	VAR_044796	missense variant	-	NC_000017.11:g.7675176A>C	UniProt
TP53	P04637	p.Trp146Ter	rs1131691026	stop gained	-	NC_000017.11:g.7675174C>T	-
TP53	P04637	p.Trp146Ter	rs1206165503	stop gained	-	NC_000017.11:g.7675175C>T	gnomAD
TP53	P04637	p.Trp146Ter	RCV000492181	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675174C>T	ClinVar
TP53	P04637	p.Trp146Ter	RCV000785547	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675175C>T	ClinVar
TP53	P04637	p.Trp146Ser	VAR_044799	Missense	-	-	UniProt
TP53	P04637	p.Trp146Cys	VAR_044795	Missense	-	-	UniProt
TP53	P04637	p.Trp146Arg	VAR_044798	Missense	-	-	UniProt
TP53	P04637	p.Trp146Leu	VAR_044797	Missense	-	-	UniProt
TP53	P04637	p.Val147Gly	rs1453167097	missense variant	-	NC_000017.11:g.7675172A>C	UniProt,dbSNP
TP53	P04637	p.Val147Gly	VAR_005892	missense variant	-	NC_000017.11:g.7675172A>C	UniProt
TP53	P04637	p.Val147Gly	rs1453167097	missense variant	-	NC_000017.11:g.7675172A>C	TOPMed
TP53	P04637	p.Val147Ile	RCV000633361	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675173C>T	ClinVar
TP53	P04637	p.Val147Ile	rs1555526226	missense variant	-	NC_000017.11:g.7675173C>T	-
TP53	P04637	p.Val147Ile	rs1555526226	missense variant	-	NC_000017.11:g.7675173C>T	UniProt,dbSNP
TP53	P04637	p.Val147Ile	VAR_044803	missense variant	-	NC_000017.11:g.7675173C>T	UniProt
TP53	P04637	p.Val147Ter	RCV000785251	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675175del	ClinVar
TP53	P04637	p.Val147Phe	VAR_044802	Missense	-	-	UniProt
TP53	P04637	p.Val147Asp	VAR_005891	Missense	-	-	UniProt
TP53	P04637	p.Val147Glu	VAR_044801	Missense	-	-	UniProt
TP53	P04637	p.Val147Ala	VAR_044800	Missense	-	-	UniProt
TP53	P04637	p.Asp148Tyr	rs1131691007	missense variant	-	NC_000017.11:g.7675170C>A	UniProt,dbSNP
TP53	P04637	p.Asp148Tyr	VAR_044809	missense variant	-	NC_000017.11:g.7675170C>A	UniProt
TP53	P04637	p.Asp148Tyr	rs1131691007	missense variant	-	NC_000017.11:g.7675170C>A	gnomAD
TP53	P04637	p.Asp148Ala	rs1046611742	missense variant	-	NC_000017.11:g.7675169T>G	-
TP53	P04637	p.Asp148Ala	RCV000569500	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675169T>G	ClinVar
TP53	P04637	p.Asp148Tyr	RCV000799619	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675170C>A	ClinVar
TP53	P04637	p.Asp148Tyr	RCV000492685	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675170C>A	ClinVar
TP53	P04637	p.Asp148Glu	VAR_044805	Missense	-	-	UniProt
TP53	P04637	p.Asp148Val	VAR_044808	Missense	-	-	UniProt
TP53	P04637	p.Asp148Asn	VAR_044807	Missense	-	-	UniProt
TP53	P04637	p.Asp148Gly	VAR_044806	Missense	-	-	UniProt
TP53	P04637	p.Ser149Ter	RCV000481047	frameshift	-	NC_000017.11:g.7675168del	ClinVar
TP53	P04637	p.Ser149Ter	RCV000785501	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675168del	ClinVar
TP53	P04637	p.Ser149Ter	RCV000785335	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675168dup	ClinVar
TP53	P04637	p.Ser149Phe	rs1555526214	missense variant	-	NC_000017.11:g.7675166G>A	UniProt,dbSNP
TP53	P04637	p.Ser149Phe	VAR_044810	missense variant	-	NC_000017.11:g.7675166G>A	UniProt
TP53	P04637	p.Ser149Phe	rs1555526214	missense variant	-	NC_000017.11:g.7675166G>A	-
TP53	P04637	p.Ser149Phe	RCV000567597	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675166G>A	ClinVar
TP53	P04637	p.Ser149Thr	VAR_044811	Missense	-	-	UniProt
TP53	P04637	p.Ser149Pro	VAR_005893	Missense	-	-	UniProt
TP53	P04637	p.Thr150Ter	RCV000475282	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675152_7675164del	ClinVar
TP53	P04637	p.Thr150Ter	RCV000582435	frameshift	-	NC_000017.11:g.7675152_7675164del	ClinVar
TP53	P04637	p.Thr150Ter	RCV000131407	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675154_7675166del	ClinVar
TP53	P04637	p.Thr150Pro	VAR_044816	Missense	-	-	UniProt
TP53	P04637	p.Thr150Lys	VAR_044814	Missense	-	-	UniProt
TP53	P04637	p.Thr150Ile	VAR_044813	Missense	-	-	UniProt
TP53	P04637	p.Thr150Arg	VAR_044817	Missense	-	-	UniProt
TP53	P04637	p.Thr150Ala	VAR_044812	Missense	-	-	UniProt
TP53	P04637	p.Thr150Asn	VAR_044815	Missense	-	-	UniProt
TP53	P04637	p.Pro151Thr	rs28934874	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>T	UniProt,dbSNP
TP53	P04637	p.Pro151Thr	VAR_005896	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>T	UniProt
TP53	P04637	p.Pro151His	rs1057520000	missense variant	-	NC_000017.11:g.7675160G>T	UniProt,dbSNP
TP53	P04637	p.Pro151His	VAR_044818	missense variant	-	NC_000017.11:g.7675160G>T	UniProt
TP53	P04637	p.Pro151Ser	rs28934874	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>A	UniProt,dbSNP
TP53	P04637	p.Pro151Ser	VAR_005895	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>A	UniProt
TP53	P04637	p.Pro151Ser	RCV000429847	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000433689	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000440887	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000421928	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Arg	RCV000419958	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000418846	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000440477	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000436541	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000430235	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000435439	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151His	RCV000633371	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675160G>T	ClinVar
TP53	P04637	p.Pro151Arg	RCV000424514	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000425600	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000439174	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000423715	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000435893	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Ter	RCV000767320	frameshift	-	NC_000017.11:g.7675154_7675163del	ClinVar
TP53	P04637	p.Pro151Ter	RCV000119796	frameshift	Sarcoma (Liposarcoma)	NC_000017.11:g.7675154_7675163del	ClinVar
TP53	P04637	p.Pro151Ser	RCV000432585	missense variant	Adenoid cystic carcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000440140	missense variant	Neoplasm of the breast	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000785532	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000443020	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000422996	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000426058	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000219702	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000438074	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Thr	RCV000013168	missense variant	Breast adenocarcinoma	NC_000017.11:g.7675161G>T	ClinVar
TP53	P04637	p.Pro151Ser	RCV000420199	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Arg	rs1057520000	missense variant	-	NC_000017.11:g.7675160G>C	UniProt,dbSNP
TP53	P04637	p.Pro151Arg	VAR_044820	missense variant	-	NC_000017.11:g.7675160G>C	UniProt
TP53	P04637	p.Pro151Ala	rs28934874	missense variant	-	NC_000017.11:g.7675161G>C	UniProt,dbSNP
TP53	P04637	p.Pro151Ala	VAR_005894	missense variant	-	NC_000017.11:g.7675161G>C	UniProt
TP53	P04637	p.Pro151Ser	RCV000420869	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Arg	RCV000441608	missense variant	Adenoid cystic carcinoma	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000421526	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000434196	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000443101	missense variant	Neoplasm of the breast	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000431352	missense variant	Neoplasm of brain	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Arg	RCV000419325	missense variant	-	NC_000017.11:g.7675160G>C	ClinVar
TP53	P04637	p.Pro151Ser	RCV000427411	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000424996	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000431507	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ser	RCV000443379	missense variant	-	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Ala	RCV000459465	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675161G>C	ClinVar
TP53	P04637	p.Pro151Ser	RCV000435681	missense variant	Neoplasm of brain	NC_000017.11:g.7675161G>A	ClinVar
TP53	P04637	p.Pro151Leu	VAR_044819	Missense	-	-	UniProt
TP53	P04637	p.Pro152Ter	RCV000785289	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675151_7675163del	ClinVar
TP53	P04637	p.Pro152Leu	RCV000677669	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152Leu	RCV000132156	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152Leu	RCV000168122	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152Leu	RCV000583667	missense variant	-	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152Ter	RCV000785525	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675161del	ClinVar
TP53	P04637	p.Pro152Leu	RCV000755703	missense variant	Familial cancer of breast	NC_000017.11:g.7675157G>A	ClinVar
TP53	P04637	p.Pro152Ser	rs767328513	missense variant	-	NC_000017.11:g.7675158G>A	ExAC,gnomAD
TP53	P04637	p.Pro152Ser	rs767328513	missense variant	-	NC_000017.11:g.7675158G>A	UniProt,dbSNP
TP53	P04637	p.Pro152Ser	VAR_005898	missense variant	-	NC_000017.11:g.7675158G>A	UniProt
TP53	P04637	p.Pro152Leu	rs587782705	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675157G>A	UniProt,dbSNP
TP53	P04637	p.Pro152Leu	VAR_005897	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675157G>A	UniProt
TP53	P04637	p.Pro152Leu	rs587782705	missense variant	-	NC_000017.11:g.7675157G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro152Ser	RCV000570923	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675158G>A	ClinVar
TP53	P04637	p.Pro152Ter	RCV000785557	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675160_7675162delinsA	ClinVar
TP53	P04637	p.Pro152Ter	RCV000220919	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675151_7675163del	ClinVar
TP53	P04637	p.Pro152Arg	VAR_044823	Missense	-	-	UniProt
TP53	P04637	p.Pro152Ala	VAR_044821	Missense	-	-	UniProt
TP53	P04637	p.Pro152Gln	VAR_044822	Missense	-	-	UniProt
TP53	P04637	p.Pro152Thr	VAR_044824	Missense	-	-	UniProt
TP53	P04637	p.Pro153Ser	RCV000795252	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675155G>A	ClinVar
TP53	P04637	p.Pro153Ser	RCV000561574	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675155G>A	ClinVar
TP53	P04637	p.Pro153Ser	RCV000481578	missense variant	-	NC_000017.11:g.7675155G>A	ClinVar
TP53	P04637	p.Pro153Ter	RCV000013155	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675161dup	ClinVar
TP53	P04637	p.Pro153Ter	RCV000161060	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675161dup	ClinVar
TP53	P04637	p.Pro153Ter	RCV000766936	frameshift	-	NC_000017.11:g.7675161dup	ClinVar
TP53	P04637	p.Pro153Ser	rs1064795860	missense variant	-	NC_000017.11:g.7675155G>A	-
TP53	P04637	p.Pro153Ser	rs1064795860	missense variant	-	NC_000017.11:g.7675155G>A	UniProt,dbSNP
TP53	P04637	p.Pro153Ser	VAR_044829	missense variant	-	NC_000017.11:g.7675155G>A	UniProt
TP53	P04637	p.Pro153His	VAR_044826	Missense	-	-	UniProt
TP53	P04637	p.Pro153Phe	VAR_045795	Missense	-	-	UniProt
TP53	P04637	p.Pro153Thr	VAR_005899	Missense	-	-	UniProt
TP53	P04637	p.Pro153Leu	VAR_044827	Missense	-	-	UniProt
TP53	P04637	p.Pro153Arg	VAR_044828	Missense	-	-	UniProt
TP53	P04637	p.Pro153Ala	VAR_044825	Missense	-	-	UniProt
TP53	P04637	p.Gly154Ser	rs137852789	missense variant	-	NC_000017.11:g.7675152C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly154Val	rs762846821	missense variant	-	NC_000017.11:g.7675151C>A	UniProt,dbSNP
TP53	P04637	p.Gly154Val	VAR_005900	missense variant	-	NC_000017.11:g.7675151C>A	UniProt
TP53	P04637	p.Gly154Val	rs762846821	missense variant	-	NC_000017.11:g.7675151C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly154Arg	RCV000567683	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675152C>G	ClinVar
TP53	P04637	p.Gly154Arg	RCV000690679	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675152C>G	ClinVar
TP53	P04637	p.Gly154Ser	RCV000119797	missense variant	Sarcoma (Liposarcoma)	NC_000017.11:g.7675152C>T	ClinVar
TP53	P04637	p.Gly154Asp	RCV000662397	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675151C>T	ClinVar
TP53	P04637	p.Gly154Ter	RCV000785249	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675149_7675152del	ClinVar
TP53	P04637	p.Gly154Asp	RCV000764147	missense variant	Adrenocortical carcinoma, hereditary (ADCC)	NC_000017.11:g.7675151C>T	ClinVar
TP53	P04637	p.Gly154Asp	RCV000231149	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675151C>T	ClinVar
TP53	P04637	p.Gly154Asp	RCV000492535	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675151C>T	ClinVar
TP53	P04637	p.Gly154Ser	rs137852789	missense variant	-	NC_000017.11:g.7675152C>T	UniProt,dbSNP
TP53	P04637	p.Gly154Ser	VAR_044833	missense variant	-	NC_000017.11:g.7675152C>T	UniProt
TP53	P04637	p.Gly154Asp	rs762846821	missense variant	-	NC_000017.11:g.7675151C>T	UniProt,dbSNP
TP53	P04637	p.Gly154Asp	VAR_044832	missense variant	-	NC_000017.11:g.7675151C>T	UniProt
TP53	P04637	p.Gly154Asp	rs762846821	missense variant	-	NC_000017.11:g.7675151C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly154Arg	rs137852789	missense variant	-	NC_000017.11:g.7675152C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly154Ile	VAR_045796	Missense	-	-	UniProt
TP53	P04637	p.Gly154Cys	VAR_044831	Missense	-	-	UniProt
TP53	P04637	p.Gly154Ala	VAR_044830	Missense	-	-	UniProt
TP53	P04637	p.Thr155Asn	rs786202752	missense variant	-	NC_000017.11:g.7675148G>T	TOPMed,gnomAD
TP53	P04637	p.Thr155Ala	RCV000534841	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675149T>C	ClinVar
TP53	P04637	p.Thr155Ala	rs772683278	missense variant	-	NC_000017.11:g.7675149T>C	UniProt,dbSNP
TP53	P04637	p.Thr155Ala	VAR_005901	missense variant	-	NC_000017.11:g.7675149T>C	UniProt
TP53	P04637	p.Thr155Ala	rs772683278	missense variant	-	NC_000017.11:g.7675149T>C	ExAC,gnomAD
TP53	P04637	p.Thr155Asn	rs786202752	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675148G>T	UniProt,dbSNP
TP53	P04637	p.Thr155Asn	VAR_044836	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675148G>T	UniProt
TP53	P04637	p.Thr155Ser	rs786202752	missense variant	-	NC_000017.11:g.7675148G>C	TOPMed,gnomAD
TP53	P04637	p.Thr155Ser	rs786202752	missense variant	-	NC_000017.11:g.7675148G>C	UniProt,dbSNP
TP53	P04637	p.Thr155Ser	VAR_044838	missense variant	-	NC_000017.11:g.7675148G>C	UniProt
TP53	P04637	p.Thr155Asn	RCV000492645	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675148G>T	ClinVar
TP53	P04637	p.Thr155Ser	RCV000804037	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675148G>C	ClinVar
TP53	P04637	p.Thr155Pro	VAR_044837	Missense	-	-	UniProt
TP53	P04637	p.Thr155Ile	VAR_044834	Missense	-	-	UniProt
TP53	P04637	p.Thr155Met	VAR_044835	Missense	-	-	UniProt
TP53	P04637	p.Arg156Cys	RCV000764146	missense variant	Adrenocortical carcinoma, hereditary (ADCC)	NC_000017.11:g.7675146G>A	ClinVar
TP53	P04637	p.Arg156Pro	RCV000785506	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675145C>G	ClinVar
TP53	P04637	p.Arg156Cys	RCV000232885	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675146G>A	ClinVar
TP53	P04637	p.Arg156Cys	RCV000409094	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675146G>A	ClinVar
TP53	P04637	p.Arg156Cys	RCV000213051	missense variant	-	NC_000017.11:g.7675146G>A	ClinVar
TP53	P04637	p.Arg156Cys	rs563378859	missense variant	-	NC_000017.11:g.7675146G>A	TOPMed,gnomAD
TP53	P04637	p.Arg156His	RCV000115722	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675145C>T	ClinVar
TP53	P04637	p.Arg156His	rs371524413	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675145C>T	UniProt,dbSNP
TP53	P04637	p.Arg156His	VAR_044841	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675145C>T	UniProt
TP53	P04637	p.Arg156His	rs371524413	missense variant	-	NC_000017.11:g.7675145C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg156Leu	VAR_044842	Missense	-	-	UniProt
TP53	P04637	p.Arg156Gly	VAR_044840	Missense	-	-	UniProt
TP53	P04637	p.Arg156Pro	VAR_005902	Missense	-	-	UniProt
TP53	P04637	p.Arg156Ser	VAR_044843	Missense	-	-	UniProt
TP53	P04637	p.Val157Asp	rs1131691023	missense variant	-	NC_000017.11:g.7675142A>T	-
TP53	P04637	p.Val157Phe	rs121912654	missense variant	-	NC_000017.11:g.7675143C>A	UniProt,dbSNP
TP53	P04637	p.Val157Phe	VAR_005904	missense variant	-	NC_000017.11:g.7675143C>A	UniProt
TP53	P04637	p.Val157Phe	rs121912654	missense variant	-	NC_000017.11:g.7675143C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Val157Phe	RCV000566103	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675143C>A	ClinVar
TP53	P04637	p.Val157Phe	RCV000785500	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675143C>A	ClinVar
TP53	P04637	p.Val157Ile	RCV000528459	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675143C>T	ClinVar
TP53	P04637	p.Val157Ala	RCV000505579	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675142A>G	ClinVar
TP53	P04637	p.Val157Ala	RCV000492393	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675142A>G	ClinVar
TP53	P04637	p.Val157Ile	RCV000235399	missense variant	-	NC_000017.11:g.7675143C>T	ClinVar
TP53	P04637	p.Val157Ile	RCV000164816	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675143C>T	ClinVar
TP53	P04637	p.Val157Ter	RCV000583594	frameshift	-	NC_000017.11:g.7675139_7675146del	ClinVar
TP53	P04637	p.Val157Ile	rs121912654	missense variant	-	NC_000017.11:g.7675143C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Val157Ile	rs121912654	missense variant	-	NC_000017.11:g.7675143C>T	UniProt,dbSNP
TP53	P04637	p.Val157Ile	VAR_012977	missense variant	-	NC_000017.11:g.7675143C>T	UniProt
TP53	P04637	p.Val157Ala	rs1131691023	missense variant	-	NC_000017.11:g.7675142A>G	UniProt,dbSNP
TP53	P04637	p.Val157Ala	VAR_044844	missense variant	-	NC_000017.11:g.7675142A>G	UniProt
TP53	P04637	p.Val157Ala	rs1131691023	missense variant	-	NC_000017.11:g.7675142A>G	-
TP53	P04637	p.Val157Asp	RCV000561132	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675142A>T	ClinVar
TP53	P04637	p.Val157Gly	VAR_044845	Missense	-	-	UniProt
TP53	P04637	p.Val157Asp	VAR_005903	Missense	-	-	UniProt
TP53	P04637	p.Val157Leu	VAR_044846	Missense	-	-	UniProt
TP53	P04637	p.Arg158Leu	rs587782144	missense variant	-	NC_000017.11:g.7675139C>A	ExAC,gnomAD
TP53	P04637	p.Arg158His	rs587782144	missense variant	-	NC_000017.11:g.7675139C>T	ExAC,gnomAD
TP53	P04637	p.Arg158His	RCV000255654	missense variant	-	NC_000017.11:g.7675139C>T	ClinVar
TP53	P04637	p.Arg158Cys	RCV000533951	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675140G>A	ClinVar
TP53	P04637	p.Arg158Leu	RCV000688595	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675138_7675139delinsAA	ClinVar
TP53	P04637	p.Arg158Pro	RCV000236862	missense variant	-	NC_000017.11:g.7675139C>G	ClinVar
TP53	P04637	p.Arg158Leu	RCV000633348	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675139C>A	ClinVar
TP53	P04637	p.Arg158Cys	rs587780068	missense variant	-	NC_000017.11:g.7675140G>A	UniProt,dbSNP
TP53	P04637	p.Arg158Cys	VAR_005905	missense variant	-	NC_000017.11:g.7675140G>A	UniProt
TP53	P04637	p.Arg158Cys	rs587780068	missense variant	-	NC_000017.11:g.7675140G>A	ExAC,gnomAD
TP53	P04637	p.Arg158Pro	rs587782144	missense variant	-	NC_000017.11:g.7675139C>G	UniProt,dbSNP
TP53	P04637	p.Arg158Pro	VAR_044848	missense variant	-	NC_000017.11:g.7675139C>G	UniProt
TP53	P04637	p.Arg158Pro	rs587782144	missense variant	-	NC_000017.11:g.7675139C>G	ExAC,gnomAD
TP53	P04637	p.Arg158His	rs587782144	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675139C>T	UniProt,dbSNP
TP53	P04637	p.Arg158His	VAR_005907	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675139C>T	UniProt
TP53	P04637	p.Arg158Ter	RCV000785488	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675138_7675141del	ClinVar
TP53	P04637	p.Arg158Gln	VAR_044849	Missense	-	-	UniProt
TP53	P04637	p.Arg158Ser	VAR_044850	Missense	-	-	UniProt
TP53	P04637	p.Arg158Phe	VAR_045797	Missense	-	-	UniProt
TP53	P04637	p.Arg158Gly	VAR_005906	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Arg158Leu	VAR_044847	Missense	-	-	UniProt
TP53	P04637	p.Arg158Tyr	VAR_045798	Missense	-	-	UniProt
TP53	P04637	p.Ala159Val	rs1555526131	missense variant	-	NC_000017.11:g.7675136G>A	UniProt,dbSNP
TP53	P04637	p.Ala159Val	VAR_044856	missense variant	-	NC_000017.11:g.7675136G>A	UniProt
TP53	P04637	p.Ala159Val	rs1555526131	missense variant	-	NC_000017.11:g.7675136G>A	-
TP53	P04637	p.Ala159Thr	rs730882000	missense variant	-	NC_000017.11:g.7675137C>T	gnomAD
TP53	P04637	p.Ala159Val	RCV000527533	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675136G>A	ClinVar
TP53	P04637	p.Ala159Pro	RCV000785272	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675137C>G	ClinVar
TP53	P04637	p.Ala159Phe	rs730882022	missense variant	-	NC_000017.11:g.7675136_7675137delinsAA	-
TP53	P04637	p.Ala159Pro	rs730882000	missense variant	-	NC_000017.11:g.7675137C>G	gnomAD
TP53	P04637	p.Ala159Phe	RCV000161063	missense variant	-	NC_000017.11:g.7675136_7675137delinsAA	ClinVar
TP53	P04637	p.Ala159Asp	VAR_044851	Missense	-	-	UniProt
TP53	P04637	p.Ala159Gly	VAR_044852	Missense	-	-	UniProt
TP53	P04637	p.Ala159Ser	VAR_044854	Missense	-	-	UniProt
TP53	P04637	p.Met160Leu	rs377274728	missense variant	-	NC_000017.11:g.7675134T>A	gnomAD
TP53	P04637	p.Met160Ile	RCV000218200	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675132C>T	ClinVar
TP53	P04637	p.Met160Ile	RCV000542402	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675132C>T	ClinVar
TP53	P04637	p.Met160Ile	RCV000485502	missense variant	-	NC_000017.11:g.7675132C>T	ClinVar
TP53	P04637	p.Met160Ile	rs772354334	missense variant	-	NC_000017.11:g.7675132C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Met160Ile	rs772354334	missense variant	-	NC_000017.11:g.7675132C>T	UniProt,dbSNP
TP53	P04637	p.Met160Ile	VAR_005908	missense variant	-	NC_000017.11:g.7675132C>T	UniProt
TP53	P04637	p.Met160Val	rs377274728	missense variant	-	NC_000017.11:g.7675134T>C	gnomAD
TP53	P04637	p.Met160Val	RCV000513585	missense variant	-	NC_000017.11:g.7675134T>C	ClinVar
TP53	P04637	p.Met160_Ala161delinsIleSer	VAR_047161	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met160Thr	VAR_044858	Missense	-	-	UniProt
TP53	P04637	p.Met160_Ala161delinsIleThr	VAR_047162	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met160_Ala161delinsIlePro	VAR_047160	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met160Lys	VAR_044857	Missense	-	-	UniProt
TP53	P04637	p.Ala161Ter	RCV000013180	frameshift	Osteosarcoma	NC_000017.11:g.7675131_7675137dup	ClinVar
TP53	P04637	p.Ala161Thr	RCV000149053	missense variant	Malignant tumor of prostate	NC_000017.11:g.7675131C>T	ClinVar
TP53	P04637	p.Ala161Thr	RCV000473543	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675131C>T	ClinVar
TP53	P04637	p.Ala161Asp	rs1064795691	missense variant	-	NC_000017.11:g.7675130G>T	UniProt,dbSNP
TP53	P04637	p.Ala161Asp	VAR_044860	missense variant	-	NC_000017.11:g.7675130G>T	UniProt
TP53	P04637	p.Ala161Thr	RCV000214033	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675131C>T	ClinVar
TP53	P04637	p.Ala161Thr	RCV000761073	missense variant	-	NC_000017.11:g.7675131C>T	ClinVar
TP53	P04637	p.Ala161Asp	RCV000552464	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675130G>T	ClinVar
TP53	P04637	p.Ala161Ter	RCV000013179	frameshift	Choroid plexus papilloma (CPP)	NC_000017.11:g.7675131_7675137dup	ClinVar
TP53	P04637	p.Ala161Phe	VAR_045800	Missense	-	-	UniProt
TP53	P04637	p.Ala161Gly	VAR_044861	Missense	-	-	UniProt
TP53	P04637	p.Ala161Ser	VAR_005909	Missense	-	-	UniProt
TP53	P04637	p.Ala161Pro	VAR_044862	Missense	-	-	UniProt
TP53	P04637	p.Ala161Val	VAR_044864	Missense	-	-	UniProt
TP53	P04637	p.Ile162Ser	RCV000115724	missense variant	-	NC_000017.11:g.7675127A>C	ClinVar
TP53	P04637	p.Ile162Ser	rs587780069	missense variant	-	NC_000017.11:g.7675127A>C	UniProt,dbSNP
TP53	P04637	p.Ile162Ser	VAR_005910	missense variant	-	NC_000017.11:g.7675127A>C	UniProt
TP53	P04637	p.Ile162Ser	rs587780069	missense variant	-	NC_000017.11:g.7675127A>C	-
TP53	P04637	p.Ile162Phe	VAR_044865	Missense	-	-	UniProt
TP53	P04637	p.Ile162Thr	VAR_044868	Missense	-	-	UniProt
TP53	P04637	p.Ile162Val	VAR_005911	Missense	-	-	UniProt
TP53	P04637	p.Ile162Met	VAR_044866	Missense	-	-	UniProt
TP53	P04637	p.Ile162Asn	VAR_044867	Missense	-	-	UniProt
TP53	P04637	p.Tyr163Asp	RCV000435516	missense variant	-	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000441609	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000423239	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000417511	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000432709	missense variant	Neoplasm of brain	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000166739	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163His	rs786203436	missense variant	-	NC_000017.11:g.7675125A>G	UniProt,dbSNP
TP53	P04637	p.Tyr163His	VAR_005912	missense variant	-	NC_000017.11:g.7675125A>G	UniProt
TP53	P04637	p.Tyr163Cys	RCV000424864	missense variant	Small cell lung cancer	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000442798	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000436926	missense variant	-	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000434251	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000419946	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000429510	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000419252	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000443742	missense variant	Neoplasm of brain	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000443833	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000420162	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000420721	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000425235	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000417885	missense variant	Small cell lung cancer	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000435900	missense variant	Neoplasm of brain	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000440924	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000426124	missense variant	Neoplasm of the breast	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000427698	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000435593	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000434917	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000430191	missense variant	Neoplasm of the breast	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000436639	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000444147	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asn	RCV000633347	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675125A>T	ClinVar
TP53	P04637	p.Tyr163His	RCV000418859	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000423893	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000441262	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000434193	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Ter	RCV000759375	nonsense	-	NC_000017.11:g.7675123G>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000423543	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Cys	RCV000785334	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675124T>C	ClinVar
TP53	P04637	p.Tyr163Asn	rs786203436	missense variant	-	NC_000017.11:g.7675125A>T	UniProt,dbSNP
TP53	P04637	p.Tyr163Asn	VAR_044871	missense variant	-	NC_000017.11:g.7675125A>T	UniProt
TP53	P04637	p.Tyr163Asp	rs786203436	missense variant	-	NC_000017.11:g.7675125A>C	UniProt,dbSNP
TP53	P04637	p.Tyr163Asp	VAR_044869	missense variant	-	NC_000017.11:g.7675125A>C	UniProt
TP53	P04637	p.Tyr163His	RCV000425645	missense variant	Neoplasm of the breast	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000428451	missense variant	Small cell lung cancer	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000424608	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000434903	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000433509	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000443587	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163Asp	RCV000430982	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675125A>C	ClinVar
TP53	P04637	p.Tyr163His	RCV000431265	missense variant	-	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000438678	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163His	RCV000418221	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675125A>G	ClinVar
TP53	P04637	p.Tyr163Phe	VAR_044870	Missense	-	-	UniProt
TP53	P04637	p.Tyr163Ser	VAR_044872	Missense	-	-	UniProt
TP53	P04637	p.Lys164Asn	rs1131691034	missense variant	-	NC_000017.11:g.7675120C>G	UniProt,dbSNP
TP53	P04637	p.Lys164Asn	VAR_005913	missense variant	-	NC_000017.11:g.7675120C>G	UniProt
TP53	P04637	p.Lys164Asn	RCV000492698	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675120C>G	ClinVar
TP53	P04637	p.Lys164AsnTer	RCV000703049	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675119_7675120delinsAG	ClinVar
TP53	P04637	p.Lys164Glu	rs879254249	missense variant	-	NC_000017.11:g.7675122T>C	UniProt,dbSNP
TP53	P04637	p.Lys164Glu	VAR_044873	missense variant	-	NC_000017.11:g.7675122T>C	UniProt
TP53	P04637	p.Lys164Glu	rs879254249	missense variant	-	NC_000017.11:g.7675122T>C	-
TP53	P04637	p.Lys164Asn	rs1131691034	missense variant	-	NC_000017.11:g.7675120C>G	TOPMed
TP53	P04637	p.Lys164Glu	RCV000541487	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675122T>C	ClinVar
TP53	P04637	p.Lys164Glu	RCV000235745	missense variant	-	NC_000017.11:g.7675122T>C	ClinVar
TP53	P04637	p.Lys164Met	VAR_044874	Missense	-	-	UniProt
TP53	P04637	p.Lys164Gln	VAR_005914	Missense	-	-	UniProt
TP53	P04637	p.Lys164Thr	VAR_044876	Missense	-	-	UniProt
TP53	P04637	p.Lys164Arg	VAR_044875	Missense	-	-	UniProt
TP53	P04637	p.Gln165Ter	RCV000785484	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675119G>A	ClinVar
TP53	P04637	p.Gln165Ter	RCV000219202	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675119G>A	ClinVar
TP53	P04637	p.Gln165Lys	RCV000573450	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675119G>T	ClinVar
TP53	P04637	p.Gln165Ter	RCV000633373	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675119G>A	ClinVar
TP53	P04637	p.Gln165Ter	RCV000161028	nonsense	-	NC_000017.11:g.7675119G>A	ClinVar
TP53	P04637	p.Gln165Pro	VAR_044879	Missense	-	-	UniProt
TP53	P04637	p.Gln165His	VAR_044878	Missense	-	-	UniProt
TP53	P04637	p.Gln165Leu	VAR_005915	Missense	-	-	UniProt
TP53	P04637	p.Gln165Arg	VAR_005916	Missense	-	-	UniProt
TP53	P04637	p.Gln165Glu	VAR_044877	Missense	-	-	UniProt
TP53	P04637	p.Ser166Ter	RCV000785317	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675115G>C	ClinVar
TP53	P04637	p.Ser166Leu	rs1555526101	missense variant	-	NC_000017.11:g.7675115G>A	-
TP53	P04637	p.Ser166Leu	rs1555526101	missense variant	-	NC_000017.11:g.7675115G>A	UniProt,dbSNP
TP53	P04637	p.Ser166Leu	VAR_005917	missense variant	-	NC_000017.11:g.7675115G>A	UniProt
TP53	P04637	p.Ser166Leu	RCV000633333	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675115G>A	ClinVar
TP53	P04637	p.Ser166Ala	VAR_044880	Missense	-	-	UniProt
TP53	P04637	p.Ser166Gly	VAR_044881	Missense	-	-	UniProt
TP53	P04637	p.Ser166Thr	VAR_044883	Missense	-	-	UniProt
TP53	P04637	p.Ser166Pro	VAR_044882	Missense	-	-	UniProt
TP53	P04637	p.Gln167Pro	RCV000580182	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675112T>G	ClinVar
TP53	P04637	p.Gln167Ter	RCV000663165	nonsense	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675113G>A	ClinVar
TP53	P04637	p.Gln167Pro	rs1319163924	missense variant	-	NC_000017.11:g.7675112T>G	TOPMed,gnomAD
TP53	P04637	p.Gln167Ter	rs1555526097	stop gained	-	NC_000017.11:g.7675113G>A	-
TP53	P04637	p.Gln167Ter	RCV000686348	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675111del	ClinVar
TP53	P04637	p.Gln167Lys	VAR_044885	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Gln167His	VAR_044884	Missense	-	-	UniProt
TP53	P04637	p.Gln167_His168delinsHisAsp	VAR_047163	deletion_insertion	-	-	UniProt
TP53	P04637	p.Gln167Leu	VAR_044886	Missense	-	-	UniProt
TP53	P04637	p.Gln167Arg	VAR_044887	Missense	-	-	UniProt
TP53	P04637	p.Gln167_His168delinsTyrLeu	VAR_047164	deletion_insertion	-	-	UniProt
TP53	P04637	p.His168Arg	RCV000702915	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675109T>C	ClinVar
TP53	P04637	p.His168Val	VAR_045801	Missense	-	-	UniProt
TP53	P04637	p.His168Leu	VAR_044889	Missense	-	-	UniProt
TP53	P04637	p.His168Asp	VAR_044888	Missense	-	-	UniProt
TP53	P04637	p.His168Tyr	VAR_044893	Missense	-	-	UniProt
TP53	P04637	p.His168_Met169delinsLeuIle	VAR_047165	deletion_insertion	-	-	UniProt
TP53	P04637	p.His168Pro	VAR_044891	Missense	-	-	UniProt
TP53	P04637	p.His168Asn	VAR_044890	Missense	-	-	UniProt
TP53	P04637	p.His168Gln	VAR_044892	Missense	-	-	UniProt
TP53	P04637	p.Met169Arg	RCV000689187	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675106A>C	ClinVar
TP53	P04637	p.Met169_Thr170delinsIleSer	VAR_047166	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met169Val	VAR_044895	Missense	-	-	UniProt
TP53	P04637	p.Met169Lys	VAR_044894	Missense	-	-	UniProt
TP53	P04637	p.Met169Ile	VAR_005919	Missense	-	-	UniProt
TP53	P04637	p.Met169Thr	VAR_005920	Missense	-	-	UniProt
TP53	P04637	p.Thr170Met	RCV000163119	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675103G>A	ClinVar
TP53	P04637	p.Thr170Arg	RCV000580691	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675103G>C	ClinVar
TP53	P04637	p.Thr170Met	RCV000662787	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675103G>A	ClinVar
TP53	P04637	p.Thr170Met	rs779000871	missense variant	-	NC_000017.11:g.7675103G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Thr170Met	rs779000871	missense variant	-	NC_000017.11:g.7675103G>A	UniProt,dbSNP
TP53	P04637	p.Thr170Met	VAR_005921	missense variant	-	NC_000017.11:g.7675103G>A	UniProt
TP53	P04637	p.Thr170Ala	RCV000123097	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675104T>C	ClinVar
TP53	P04637	p.Thr170Ter	RCV000567372	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675102_7675105del	ClinVar
TP53	P04637	p.Thr170Ter	RCV000759376	frameshift	-	NC_000017.11:g.7675102_7675105del	ClinVar
TP53	P04637	p.Thr170Met	RCV000478196	missense variant	-	NC_000017.11:g.7675103G>A	ClinVar
TP53	P04637	p.Thr170Arg	rs779000871	missense variant	-	NC_000017.11:g.7675103G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Thr170Ala	rs587780729	missense variant	-	NC_000017.11:g.7675104T>C	-
TP53	P04637	p.Thr170Ala	rs587780729	missense variant	-	NC_000017.11:g.7675104T>C	UniProt,dbSNP
TP53	P04637	p.Thr170Ala	VAR_044896	missense variant	-	NC_000017.11:g.7675104T>C	UniProt
TP53	P04637	p.Thr170Met	RCV000206777	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675103G>A	ClinVar
TP53	P04637	p.Thr170Lys	VAR_044897	Missense	-	-	UniProt
TP53	P04637	p.Thr170Pro	VAR_044898	Missense	-	-	UniProt
TP53	P04637	p.Thr170Ser	VAR_005922	Missense	-	-	UniProt
TP53	P04637	p.Glu171Lys	RCV000130145	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675101C>T	ClinVar
TP53	P04637	p.Glu171Lys	RCV000168226	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675101C>T	ClinVar
TP53	P04637	p.Glu171Lys	RCV000480730	missense variant	-	NC_000017.11:g.7675101C>T	ClinVar
TP53	P04637	p.Glu171Ter	RCV000792928	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675101C>A	ClinVar
TP53	P04637	p.Glu171Ter	RCV000785509	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675101C>A	ClinVar
TP53	P04637	p.Glu171Lys	rs587781845	missense variant	-	NC_000017.11:g.7675101C>T	UniProt,dbSNP
TP53	P04637	p.Glu171Lys	VAR_044902	missense variant	-	NC_000017.11:g.7675101C>T	UniProt
TP53	P04637	p.Glu171Lys	rs587781845	missense variant	-	NC_000017.11:g.7675101C>T	-
TP53	P04637	p.Glu171Ala	VAR_044899	Missense	-	-	UniProt
TP53	P04637	p.Glu171Val	VAR_044904	Missense	-	-	UniProt
TP53	P04637	p.Glu171Gln	VAR_044903	Missense	-	-	UniProt
TP53	P04637	p.Glu171Asp	VAR_044900	Missense	-	-	UniProt
TP53	P04637	p.Glu171Gly	VAR_044901	Missense	-	-	UniProt
TP53	P04637	p.Val172Phe	rs1131691043	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675098C>A	UniProt,dbSNP
TP53	P04637	p.Val172Phe	VAR_044906	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675098C>A	UniProt
TP53	P04637	p.Val172Phe	rs1131691043	missense variant	-	NC_000017.11:g.7675098C>A	-
TP53	P04637	p.Val172Phe	RCV000492688	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675098C>A	ClinVar
TP53	P04637	p.Val172Ala	RCV000633341	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675097A>G	ClinVar
TP53	P04637	p.Val172Ala	rs1131691021	missense variant	-	NC_000017.11:g.7675097A>G	-
TP53	P04637	p.Val172Gly	rs1131691021	missense variant	-	NC_000017.11:g.7675097A>C	-
TP53	P04637	p.Val172Gly	rs1131691021	missense variant	-	NC_000017.11:g.7675097A>C	UniProt,dbSNP
TP53	P04637	p.Val172Gly	VAR_044907	missense variant	-	NC_000017.11:g.7675097A>C	UniProt
TP53	P04637	p.Val172Gly	RCV000492745	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675097A>C	ClinVar
TP53	P04637	p.Val172Ile	VAR_044908	Missense	-	-	UniProt
TP53	P04637	p.Val172Ala	VAR_005923	Missense	-	-	UniProt
TP53	P04637	p.Val172Asp	VAR_044905	Missense	-	-	UniProt
TP53	P04637	p.Val173Met	RCV000440133	missense variant	Small cell lung cancer	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000439338	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000418817	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000433605	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000785308	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Leu	rs876660754	missense variant	-	NC_000017.11:g.7675095C>A	UniProt,dbSNP
TP53	P04637	p.Val173Leu	VAR_005925	missense variant	-	NC_000017.11:g.7675095C>A	UniProt
TP53	P04637	p.Val173Ala	RCV000438619	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000419648	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000420982	missense variant	Neoplasm of brain	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000428561	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000426247	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000420735	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000437348	missense variant	Small cell lung cancer	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000775880	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000430991	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Glu	RCV000582350	missense variant	-	NC_000017.11:g.7675094A>T	ClinVar
TP53	P04637	p.Val173Ala	RCV000432237	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000438785	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Gly	RCV000807434	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675094A>C	ClinVar
TP53	P04637	p.Val173Ala	RCV000439921	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Met	RCV000418768	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000423333	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000424469	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000429913	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Leu	RCV000694763	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675095C>A	ClinVar
TP53	P04637	p.Val173Met	RCV000435365	missense variant	Neoplasm of brain	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000214341	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000423542	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	rs876660754	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675095C>T	UniProt,dbSNP
TP53	P04637	p.Val173Met	VAR_005926	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675095C>T	UniProt
TP53	P04637	p.Val173Ter	RCV000657325	frameshift	-	NC_000017.11:g.7675096_7675099dup	ClinVar
TP53	P04637	p.Val173Ala	RCV000430804	missense variant	-	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000421990	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000436282	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000437553	missense variant	Neoplasm of the breast	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Ala	RCV000445170	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675094A>G	ClinVar
TP53	P04637	p.Val173Met	RCV000429546	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000435180	missense variant	-	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000434638	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Met	RCV000418173	missense variant	Neoplasm of the breast	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Ter	RCV000165358	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675097_7675101dup	ClinVar
TP53	P04637	p.Val173Met	RCV000441217	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675095C>T	ClinVar
TP53	P04637	p.Val173Trp	VAR_045802	Missense	-	-	UniProt
TP53	P04637	p.Arg174Lys	RCV000478775	missense variant	-	NC_000017.11:g.7675091C>T	ClinVar
TP53	P04637	p.Arg174Gly	RCV000205095	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675092T>C	ClinVar
TP53	P04637	p.Arg174Lys	rs1064796681	missense variant	-	NC_000017.11:g.7675091C>T	-
TP53	P04637	p.Arg174Gly	rs864622115	missense variant	-	NC_000017.11:g.7675092T>C	-
TP53	P04637	p.Arg174Trp	VAR_044915	Missense	-	-	UniProt
TP53	P04637	p.Arg174Ser	VAR_044913	Missense	-	-	UniProt
TP53	P04637	p.Arg174Met	VAR_044912	Missense	-	-	UniProt
TP53	P04637	p.Arg174Thr	VAR_044914	Missense	-	-	UniProt
TP53	P04637	p.Arg175Gly	rs138729528	missense variant	-	NC_000017.11:g.7675089G>C	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg175Leu	RCV000161065	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675088C>A	ClinVar
TP53	P04637	p.Arg175Cys	RCV000704159	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675089G>A	ClinVar
TP53	P04637	p.Arg175Gly	RCV000459914	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675089G>C	ClinVar
TP53	P04637	p.Arg175Cys	RCV000235329	missense variant	-	NC_000017.11:g.7675089G>A	ClinVar
TP53	P04637	p.Arg175His	RCV000428918	missense variant	Neoplasm of the breast	NC_000017.11:g.7675088C>T	ClinVar
TP53	P04637	p.Arg175Leu	rs28934578	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675088C>A	UniProt,dbSNP
TP53	P04637	p.Arg175Leu	VAR_005930	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675088C>A	UniProt
TP53	P04637	p.Arg175Cys	rs138729528	missense variant	-	NC_000017.11:g.7675089G>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg175His	rs28934578	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7675088C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg175His	rs28934578	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675088C>T	UniProt,dbSNP
TP53	P04637	p.Arg175His	VAR_005932	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675088C>T	UniProt
TP53	P04637	p.Arg175Leu	rs28934578	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7675088C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg175Leu	rs28934578	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7675088C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg175Gly	rs138729528	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675089G>C	UniProt,dbSNP
TP53	P04637	p.Arg175Gly	VAR_005929	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675089G>C	UniProt
TP53	P04637	p.Arg175Cys	rs138729528	missense variant	-	NC_000017.11:g.7675089G>A	UniProt,dbSNP
TP53	P04637	p.Arg175Cys	VAR_005928	missense variant	-	NC_000017.11:g.7675089G>A	UniProt
TP53	P04637	p.Arg175Ser	VAR_044917	Missense	-	-	UniProt
TP53	P04637	p.Arg175Pro	VAR_005931	Missense	-	-	UniProt
TP53	P04637	p.Arg175Gln	VAR_044916	Missense	-	-	UniProt
TP53	P04637	p.Cys176Phe	RCV000429805	missense variant	Neoplasm of the breast	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000425950	missense variant	-	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000431923	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Trp	RCV000530055	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675084G>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000433667	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000422633	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Arg	RCV000436236	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000431070	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000436082	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000417996	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Gly	RCV000432450	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000442242	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000419497	missense variant	Neoplasm of brain	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000437830	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Gly	RCV000426543	missense variant	Neoplasm of brain	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000428520	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000430876	missense variant	-	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Ser	RCV000439156	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Trp	RCV000567103	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675084G>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000420420	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000427160	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Gly	RCV000433975	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000426275	missense variant	Neoplasm of the breast	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000425147	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Gly	RCV000445223	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Arg	RCV000425379	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000430429	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Ser	RCV000428308	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Ser	RCV000444511	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000417784	missense variant	-	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Gly	RCV000434565	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000436945	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000434994	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Gly	RCV000439618	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000420646	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000431573	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000441815	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000444713	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Arg	RCV000438958	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Ser	RCV000425621	missense variant	Neoplasm of brain	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Ser	RCV000417611	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Phe	RCV000440706	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000442295	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000424063	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Tyr	RCV000461158	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675085C>T	ClinVar
TP53	P04637	p.Cys176Phe	RCV000440448	missense variant	Neoplasm of brain	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000429162	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000445093	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000423829	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Tyr	rs786202962	missense variant	-	NC_000017.11:g.7675085C>T	gnomAD
TP53	P04637	p.Cys176Phe	rs786202962	missense variant	-	NC_000017.11:g.7675085C>A	gnomAD
TP53	P04637	p.Cys176Phe	rs786202962	missense variant	-	NC_000017.11:g.7675085C>A	UniProt,dbSNP
TP53	P04637	p.Cys176Phe	VAR_005933	missense variant	-	NC_000017.11:g.7675085C>A	UniProt
TP53	P04637	p.Cys176Tyr	rs786202962	missense variant	-	NC_000017.11:g.7675085C>T	UniProt,dbSNP
TP53	P04637	p.Cys176Tyr	VAR_044921	missense variant	-	NC_000017.11:g.7675085C>T	UniProt
TP53	P04637	p.Cys176Trp	rs1057519980	missense variant	-	NC_000017.11:g.7675084G>C	UniProt,dbSNP
TP53	P04637	p.Cys176Trp	VAR_005934	missense variant	-	NC_000017.11:g.7675084G>C	UniProt
TP53	P04637	p.Cys176Trp	rs1057519980	missense variant	-	NC_000017.11:g.7675084G>C	gnomAD
TP53	P04637	p.Cys176Arg	RCV000785487	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675084_7675086delinsCCG	ClinVar
TP53	P04637	p.Cys176Arg	RCV000785469	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Ser	RCV000439650	missense variant	-	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Gly	RCV000423257	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Arg	RCV000421755	missense variant	Neoplasm of the breast	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000442522	missense variant	Neoplasm of the breast	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Arg	RCV000419681	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Ser	RCV000427846	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000436752	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Gly	RCV000785535	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675086A>C	ClinVar
TP53	P04637	p.Cys176Ser	RCV000437617	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675086A>T	ClinVar
TP53	P04637	p.Cys176Arg	RCV000423671	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675086A>G	ClinVar
TP53	P04637	p.Cys176Phe	RCV000435143	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000445073	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000434780	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000424490	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Phe	RCV000423447	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7675085C>A	ClinVar
TP53	P04637	p.Cys176Gly	VAR_044918	Missense	-	-	UniProt
TP53	P04637	p.Cys176Arg	VAR_044919	Missense	-	-	UniProt
TP53	P04637	p.Cys176_Pro177delinsPheSer	VAR_047167	deletion_insertion	-	-	UniProt
TP53	P04637	p.Pro177Thr	RCV000574871	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675083G>T	ClinVar
TP53	P04637	p.Pro177Arg	RCV000540639	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675082G>C	ClinVar
TP53	P04637	p.Pro177Thr	RCV000687535	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675083G>T	ClinVar
TP53	P04637	p.Pro177Leu	RCV000477631	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675082G>A	ClinVar
TP53	P04637	p.Pro177Ser	rs147002414	missense variant	-	NC_000017.11:g.7675083G>A	-
TP53	P04637	p.Pro177Ser	rs147002414	missense variant	-	NC_000017.11:g.7675083G>A	UniProt,dbSNP
TP53	P04637	p.Pro177Ser	VAR_044924	missense variant	-	NC_000017.11:g.7675083G>A	UniProt
TP53	P04637	p.Pro177Leu	rs751477326	missense variant	-	NC_000017.11:g.7675082G>A	ExAC,gnomAD
TP53	P04637	p.Pro177Thr	rs147002414	missense variant	-	NC_000017.11:g.7675083G>T	-
TP53	P04637	p.Pro177Leu	RCV000759377	missense variant	-	NC_000017.11:g.7675082G>A	ClinVar
TP53	P04637	p.Pro177Arg	rs751477326	missense variant	-	NC_000017.11:g.7675082G>C	ExAC,gnomAD
TP53	P04637	p.Pro177Ala	VAR_044922	Missense	-	-	UniProt
TP53	P04637	p.Pro177His	VAR_044923	Missense	-	-	UniProt
TP53	P04637	p.Pro177Phe	VAR_045803	Missense	-	-	UniProt
TP53	P04637	p.Pro177Ile	VAR_045804	Missense	-	-	UniProt
TP53	P04637	p.Pro177Thr	VAR_044925	Missense	-	-	UniProt
TP53	P04637	p.His178Asp	RCV000575494	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675080G>C	ClinVar
TP53	P04637	p.His178Asn	RCV000485632	missense variant	-	NC_000017.11:g.7675080G>T	ClinVar
TP53	P04637	p.His178Ter	RCV000215848	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675084del	ClinVar
TP53	P04637	p.His178Gln	RCV000698003	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675078G>T	ClinVar
TP53	P04637	p.His178Ter	RCV000785267	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675072_7675079del	ClinVar
TP53	P04637	p.His178Asn	rs1064795203	missense variant	-	NC_000017.11:g.7675080G>T	UniProt,dbSNP
TP53	P04637	p.His178Asn	VAR_044928	missense variant	-	NC_000017.11:g.7675080G>T	UniProt
TP53	P04637	p.His178Pro	rs1555526004	missense variant	-	NC_000017.11:g.7675079T>G	UniProt,dbSNP
TP53	P04637	p.His178Pro	VAR_044929	missense variant	-	NC_000017.11:g.7675079T>G	UniProt
TP53	P04637	p.His178Pro	rs1555526004	missense variant	-	NC_000017.11:g.7675079T>G	-
TP53	P04637	p.His178Pro	RCV000562255	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675079T>G	ClinVar
TP53	P04637	p.His178Asp	RCV000633339	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675080G>C	ClinVar
TP53	P04637	p.His178Ter	RCV000013176	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675084del	ClinVar
TP53	P04637	p.His178Ter	RCV000785474	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675084del	ClinVar
TP53	P04637	p.His178Leu	VAR_044927	Missense	-	-	UniProt
TP53	P04637	p.His178_His179delinsGlnSer	VAR_047168	deletion_insertion	-	-	UniProt
TP53	P04637	p.His178Asp	VAR_044926	Missense	-	-	UniProt
TP53	P04637	p.His178Tyr	VAR_044932	Missense	-	-	UniProt
TP53	P04637	p.His178insHisProHisPro	VAR_005936	inframe_insertion	-	-	UniProt
TP53	P04637	p.His178Arg	VAR_044931	Missense	-	-	UniProt
TP53	P04637	p.His178Gln	VAR_044930	Missense	-	-	UniProt
TP53	P04637	p.His179Leu	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>A	gnomAD
TP53	P04637	p.His179Asp	rs587780070	missense variant	-	NC_000017.11:g.7675077G>C	gnomAD
TP53	P04637	p.His179Asn	rs587780070	missense variant	-	NC_000017.11:g.7675077G>T	UniProt,dbSNP
TP53	P04637	p.His179Asn	VAR_044935	missense variant	-	NC_000017.11:g.7675077G>T	UniProt
TP53	P04637	p.His179Arg	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>C	UniProt,dbSNP
TP53	P04637	p.His179Arg	VAR_044938	missense variant	-	NC_000017.11:g.7675076T>C	UniProt
TP53	P04637	p.His179Pro	RCV000444694	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000435347	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000428125	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000431234	missense variant	Neoplasm of brain	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000429543	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000421224	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000444683	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000432531	missense variant	-	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000427925	missense variant	Small cell lung cancer	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000433134	missense variant	Small cell lung cancer	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000438631	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000439318	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000443703	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000421837	missense variant	Glioblastoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000427941	missense variant	Neoplasm of brain	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000432547	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000427330	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000438275	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000420124	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000441519	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000433456	missense variant	-	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000438217	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000418835	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000418129	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000443637	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000421433	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Arg	RCV000529132	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675076T>C	ClinVar
TP53	P04637	p.His179Asp	RCV000424030	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000431709	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000427283	missense variant	Neoplasm of brain	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000419821	missense variant	Small cell lung cancer	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000425288	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000434725	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000430072	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asn	RCV000695193	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675077G>T	ClinVar
TP53	P04637	p.His179Asp	RCV000420116	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000437679	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000436095	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000424007	missense variant	Small cell lung cancer	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000421694	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000428854	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Gln	RCV000464573	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675075A>T	ClinVar
TP53	P04637	p.His179Asp	RCV000426383	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000423688	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000434379	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000663095	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000424716	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000444860	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000440707	missense variant	Neoplasm of brain	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000419024	missense variant	-	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000419735	missense variant	Glioblastoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000436443	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000444992	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000444364	missense variant	Neoplasm of the breast	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000431956	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000430612	missense variant	-	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000785312	missense variant	Ovarian Neoplasms	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000430411	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000423020	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000435360	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000444227	missense variant	Lung adenocarcinoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000423899	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000436304	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Asp	RCV000441771	missense variant	Glioblastoma	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000436622	missense variant	Neoplasm of the breast	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Asp	RCV000443866	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675077G>C	ClinVar
TP53	P04637	p.His179Tyr	RCV000431087	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000440222	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Tyr	RCV000441827	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7675077G>A	ClinVar
TP53	P04637	p.His179Gln	rs876660821	missense variant	-	NC_000017.11:g.7675075A>C	gnomAD
TP53	P04637	p.His179Gln	rs876660821	missense variant	-	NC_000017.11:g.7675075A>C	UniProt,dbSNP
TP53	P04637	p.His179Gln	VAR_044937	missense variant	-	NC_000017.11:g.7675075A>C	UniProt
TP53	P04637	p.His179Tyr	rs587780070	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675077G>A	UniProt,dbSNP
TP53	P04637	p.His179Tyr	VAR_044939	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675077G>A	UniProt
TP53	P04637	p.His179Asn	rs587780070	missense variant	-	NC_000017.11:g.7675077G>T	gnomAD
TP53	P04637	p.His179Asp	rs587780070	missense variant	-	NC_000017.11:g.7675077G>C	UniProt,dbSNP
TP53	P04637	p.His179Asp	VAR_044933	missense variant	-	NC_000017.11:g.7675077G>C	UniProt
TP53	P04637	p.His179Gln	rs876660821	missense variant	-	NC_000017.11:g.7675075A>T	gnomAD
TP53	P04637	p.His179Arg	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>C	gnomAD
TP53	P04637	p.His179Leu	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>A	UniProt,dbSNP
TP53	P04637	p.His179Leu	VAR_044934	missense variant	-	NC_000017.11:g.7675076T>A	UniProt
TP53	P04637	p.His179Tyr	rs587780070	missense variant	-	NC_000017.11:g.7675077G>A	gnomAD
TP53	P04637	p.His179Pro	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>G	UniProt,dbSNP
TP53	P04637	p.His179Pro	VAR_044936	missense variant	-	NC_000017.11:g.7675076T>G	UniProt
TP53	P04637	p.His179Pro	rs1057519991	missense variant	-	NC_000017.11:g.7675076T>G	gnomAD
TP53	P04637	p.His179Leu	RCV000427517	missense variant	Neoplasm of the breast	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000420510	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000426919	missense variant	Glioblastoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000437164	missense variant	Neoplasm of the breast	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000439058	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000439930	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000422328	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Leu	RCV000432746	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Leu	RCV000426806	missense variant	Carcinoma of esophagus	NC_000017.11:g.7675076T>A	ClinVar
TP53	P04637	p.His179Pro	RCV000444604	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000427172	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Pro	RCV000434884	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7675076T>G	ClinVar
TP53	P04637	p.His179Gln	RCV000815181	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675075A>C	ClinVar
TP53	P04637	p.His179Ter	RCV000704693	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675077_7675095dup	ClinVar
TP53	P04637	p.Glu180Lys	RCV000492319	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675074C>T	ClinVar
TP53	P04637	p.Glu180Ter	RCV000785283	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675074C>A	ClinVar
TP53	P04637	p.Glu180Lys	RCV000235571	missense variant	-	NC_000017.11:g.7675074C>T	ClinVar
TP53	P04637	p.Glu180Lys	rs879253911	missense variant	-	NC_000017.11:g.7675074C>T	-
TP53	P04637	p.Glu180Lys	rs879253911	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675074C>T	UniProt,dbSNP
TP53	P04637	p.Glu180Lys	VAR_044943	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675074C>T	UniProt
TP53	P04637	p.Glu180Lys	RCV000544036	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675074C>T	ClinVar
TP53	P04637	p.Glu180Gly	VAR_044942	Missense	-	-	UniProt
TP53	P04637	p.Glu180Asp	VAR_044941	Missense	-	-	UniProt
TP53	P04637	p.Glu180Val	VAR_044945	Missense	-	-	UniProt
TP53	P04637	p.Glu180Gln	VAR_044944	Missense	-	-	UniProt
TP53	P04637	p.Glu180Ala	VAR_044940	Missense	-	-	UniProt
TP53	P04637	p.Arg181Leu	rs397514495	missense variant	Glioma susceptibility 1 (glm1)	NC_000017.11:g.7675070C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg181Ser	rs587782596	missense variant	-	NC_000017.11:g.7675071G>T	TOPMed
TP53	P04637	p.Arg181Cys	rs587782596	missense variant	-	NC_000017.11:g.7675071G>A	TOPMed
TP53	P04637	p.Arg181Leu	RCV000692266	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675070C>A	ClinVar
TP53	P04637	p.Arg181His	RCV000255239	missense variant	-	NC_000017.11:g.7675070C>T	ClinVar
TP53	P04637	p.Arg181Ser	RCV000222957	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675071G>T	ClinVar
TP53	P04637	p.Arg181His	RCV000576528	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675070C>T	ClinVar
TP53	P04637	p.Arg181Ser	RCV000799329	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675071G>T	ClinVar
TP53	P04637	p.Arg181Cys	RCV000236276	missense variant	-	NC_000017.11:g.7675071G>A	ClinVar
TP53	P04637	p.Arg181His	RCV000131382	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675070C>T	ClinVar
TP53	P04637	p.Arg181His	rs397514495	missense variant	Glioma susceptibility 1 (glm1)	NC_000017.11:g.7675070C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg181Ser	rs587782596	missense variant	-	NC_000017.11:g.7675071G>T	UniProt,dbSNP
TP53	P04637	p.Arg181Ser	VAR_044950	missense variant	-	NC_000017.11:g.7675071G>T	UniProt
TP53	P04637	p.Arg181Leu	rs397514495	missense variant	-	NC_000017.11:g.7675070C>A	UniProt,dbSNP
TP53	P04637	p.Arg181Leu	VAR_005937	missense variant	-	NC_000017.11:g.7675070C>A	UniProt
TP53	P04637	p.Arg181His	rs397514495	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675070C>T	UniProt,dbSNP
TP53	P04637	p.Arg181His	VAR_044948	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675070C>T	UniProt
TP53	P04637	p.Arg181Cys	rs587782596	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675071G>A	UniProt,dbSNP
TP53	P04637	p.Arg181Cys	VAR_044946	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675071G>A	UniProt
TP53	P04637	p.Arg181Gly	VAR_044947	Missense	-	-	UniProt
TP53	P04637	p.Arg181Pro	VAR_044949	Missense	-	-	UniProt
TP53	P04637	p.Cys182Ter	RCV000785517	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675067del	ClinVar
TP53	P04637	p.Cys182Trp	RCV000485383	missense variant	-	NC_000017.11:g.7675066G>C	ClinVar
TP53	P04637	p.Cys182Trp	rs1064796257	missense variant	-	NC_000017.11:g.7675066G>C	-
TP53	P04637	p.Cys182Tyr	VAR_044952	Missense	-	-	UniProt
TP53	P04637	p.Cys182Arg	VAR_044951	Missense	-	-	UniProt
TP53	P04637	p.Cys182Ser	VAR_005938	Missense	-	-	UniProt
TP53	P04637	p.Ser183Leu	RCV000565655	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675064G>A	ClinVar
TP53	P04637	p.Ser183Leu	rs1555525970	missense variant	-	NC_000017.11:g.7675064G>A	UniProt,dbSNP
TP53	P04637	p.Ser183Leu	VAR_044953	missense variant	-	NC_000017.11:g.7675064G>A	UniProt
TP53	P04637	p.Ser183Leu	rs1555525970	missense variant	-	NC_000017.11:g.7675064G>A	-
TP53	P04637	p.Ser183Ter	RCV000785319	nonsense	Ovarian Neoplasms	NC_000017.11:g.7675064G>C	ClinVar
TP53	P04637	p.Ser183Pro	VAR_044954	Missense	-	-	UniProt
TP53	P04637	p.Asp184Gly	rs1060501209	missense variant	-	NC_000017.11:g.7675061T>C	-
TP53	P04637	p.Asp184Ter	RCV000785502	frameshift	Ovarian Neoplasms	NC_000017.11:g.7675061del	ClinVar
TP53	P04637	p.Asp184Gly	RCV000462657	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675061T>C	ClinVar
TP53	P04637	p.Asp184Tyr	VAR_005939	Missense	-	-	UniProt
TP53	P04637	p.Asp184Val	VAR_044957	Missense	-	-	UniProt
TP53	P04637	p.Asp184His	VAR_044956	Missense	-	-	UniProt
TP53	P04637	p.Ser185Asn	RCV000129849	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675058C>T	ClinVar
TP53	P04637	p.Ser185Asn	RCV000233843	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675058C>T	ClinVar
TP53	P04637	p.Ser185Asn	RCV000662659	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7675058C>T	ClinVar
TP53	P04637	p.Ser185Asn	rs150607408	missense variant	-	NC_000017.11:g.7675058C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ser185Asn	rs150607408	missense variant	-	NC_000017.11:g.7675058C>T	UniProt,dbSNP
TP53	P04637	p.Ser185Asn	VAR_044961	missense variant	-	NC_000017.11:g.7675058C>T	UniProt
TP53	P04637	p.Ser185Ile	VAR_044960	Missense	-	-	UniProt
TP53	P04637	p.Ser185Thr	VAR_044963	Missense	-	-	UniProt
TP53	P04637	p.Ser185Arg	VAR_044962	Missense	-	-	UniProt
TP53	P04637	p.Ser185Cys	VAR_044958	Missense	-	-	UniProt
TP53	P04637	p.Ser185Gly	VAR_044959	Missense	-	-	UniProt
TP53	P04637	p.Asp186Asn	RCV000571882	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7675056C>T	ClinVar
TP53	P04637	p.Asp186Asn	RCV000467183	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675056C>T	ClinVar
TP53	P04637	p.Asp186Glu	rs375275361	missense variant	-	NC_000017.11:g.7675054A>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Asp186Asn	rs1060501206	missense variant	-	NC_000017.11:g.7675056C>T	gnomAD
TP53	P04637	p.Asp186Glu	RCV000470622	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7675054A>T	ClinVar
TP53	P04637	p.Asp186Asn	RCV000481372	missense variant	-	NC_000017.11:g.7675056C>T	ClinVar
TP53	P04637	p.Asp186Glu	RCV000235477	missense variant	-	NC_000017.11:g.7675054A>T	ClinVar
TP53	P04637	p.Asp186Tyr	VAR_005940	Missense	-	-	UniProt
TP53	P04637	p.Asp186Val	VAR_044968	Missense	-	-	UniProt
TP53	P04637	p.Asp186His	VAR_044966	Missense	-	-	UniProt
TP53	P04637	p.Asp186Gly	VAR_044965	Missense	-	-	UniProt
TP53	P04637	p.Gly187Asp	RCV000483175	missense variant	-	NC_000017.11:g.7674971C>T	ClinVar
TP53	P04637	p.Gly187Ser	rs776167460	missense variant	-	NC_000017.11:g.7675053C>T	UniProt,dbSNP
TP53	P04637	p.Gly187Ser	VAR_005942	missense variant	-	NC_000017.11:g.7675053C>T	UniProt
TP53	P04637	p.Gly187Ser	rs776167460	missense variant	-	NC_000017.11:g.7675053C>T	ExAC
TP53	P04637	p.Gly187Asp	rs1064795841	missense variant	-	NC_000017.11:g.7674971C>T	-
TP53	P04637	p.Gly187Asp	VAR_044969	Missense	-	-	UniProt
TP53	P04637	p.Gly187Arg	VAR_044970	Missense	-	-	UniProt
TP53	P04637	p.Gly187Val	VAR_044971	Missense	-	-	UniProt
TP53	P04637	p.Gly187Asn	VAR_045805	Missense	-	-	UniProt
TP53	P04637	p.Gly187Cys	VAR_005941	Missense	-	-	UniProt
TP53	P04637	p.Leu188Pro	rs1199893366	missense variant	-	NC_000017.11:g.7674968A>G	UniProt,dbSNP
TP53	P04637	p.Leu188Pro	VAR_044972	missense variant	-	NC_000017.11:g.7674968A>G	UniProt
TP53	P04637	p.Leu188Pro	rs1199893366	missense variant	-	NC_000017.11:g.7674968A>G	TOPMed
TP53	P04637	p.Leu188Val	VAR_044973	Missense	-	-	UniProt
TP53	P04637	p.Ala189Val	rs121912665	missense variant	-	NC_000017.11:g.7674965G>A	UniProt,dbSNP
TP53	P04637	p.Ala189Val	VAR_044978	missense variant	-	NC_000017.11:g.7674965G>A	UniProt
TP53	P04637	p.Ala189Ser	rs1555525921	missense variant	-	NC_000017.11:g.7674966C>A	-
TP53	P04637	p.Ala189Ser	rs1555525921	missense variant	-	NC_000017.11:g.7674966C>A	UniProt,dbSNP
TP53	P04637	p.Ala189Ser	VAR_044976	missense variant	-	NC_000017.11:g.7674966C>A	UniProt
TP53	P04637	p.Ala189Val	rs121912665	missense variant	-	NC_000017.11:g.7674965G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Ala189Val	RCV000013182	missense variant	Familial colorectal cancer (CRC)	NC_000017.11:g.7674965G>A	ClinVar
TP53	P04637	p.Ala189Ser	RCV000633369	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674966C>A	ClinVar
TP53	P04637	p.Ala189Pro	VAR_005943	Missense	-	-	UniProt
TP53	P04637	p.Ala189Gly	VAR_044975	Missense	-	-	UniProt
TP53	P04637	p.Ala189Asp	VAR_044974	Missense	-	-	UniProt
TP53	P04637	p.Ala189Thr	VAR_044977	Missense	-	-	UniProt
TP53	P04637	p.Pro190Arg	RCV000222080	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674962G>C	ClinVar
TP53	P04637	p.Pro190Leu	rs876660825	missense variant	-	NC_000017.11:g.7674962G>A	UniProt,dbSNP
TP53	P04637	p.Pro190Leu	VAR_005944	missense variant	-	NC_000017.11:g.7674962G>A	UniProt
TP53	P04637	p.Pro190Leu	rs876660825	missense variant	-	NC_000017.11:g.7674962G>A	-
TP53	P04637	p.Pro190Arg	rs876660825	missense variant	-	NC_000017.11:g.7674962G>C	-
TP53	P04637	p.Pro190Arg	rs876660825	missense variant	-	NC_000017.11:g.7674962G>C	UniProt,dbSNP
TP53	P04637	p.Pro190Arg	VAR_044981	missense variant	-	NC_000017.11:g.7674962G>C	UniProt
TP53	P04637	p.Pro190Leu	RCV000551566	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674962G>A	ClinVar
TP53	P04637	p.Pro190Leu	RCV000484792	missense variant	-	NC_000017.11:g.7674962G>A	ClinVar
TP53	P04637	p.Pro190Thr	rs876660254	missense variant	-	NC_000017.11:g.7674963G>T	-
TP53	P04637	p.Pro190Thr	rs876660254	missense variant	-	NC_000017.11:g.7674963G>T	UniProt,dbSNP
TP53	P04637	p.Pro190Thr	VAR_044983	missense variant	-	NC_000017.11:g.7674963G>T	UniProt
TP53	P04637	p.Pro190Thr	RCV000213384	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674963G>T	ClinVar
TP53	P04637	p.Pro190His	VAR_044980	Missense	-	-	UniProt
TP53	P04637	p.Pro190Ala	VAR_044979	Missense	-	-	UniProt
TP53	P04637	p.Pro190Ser	VAR_044982	Missense	-	-	UniProt
TP53	P04637	p.Pro191Leu	rs587778718	missense variant	-	NC_000017.11:g.7674959G>A	UniProt,dbSNP
TP53	P04637	p.Pro191Leu	VAR_044985	missense variant	-	NC_000017.11:g.7674959G>A	UniProt
TP53	P04637	p.Pro191Arg	RCV000219468	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674959G>C	ClinVar
TP53	P04637	p.Pro191Arg	RCV000662561	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674959G>C	ClinVar
TP53	P04637	p.Pro191Arg	RCV000205751	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674959G>C	ClinVar
TP53	P04637	p.Pro191Arg	RCV000766937	missense variant	-	NC_000017.11:g.7674959G>C	ClinVar
TP53	P04637	p.Pro191Arg	rs587778718	missense variant	-	NC_000017.11:g.7674959G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro191His	rs587778718	missense variant	-	NC_000017.11:g.7674959G>T	UniProt,dbSNP
TP53	P04637	p.Pro191His	VAR_044984	missense variant	-	NC_000017.11:g.7674959G>T	UniProt
TP53	P04637	p.Pro191Arg	rs587778718	missense variant	-	NC_000017.11:g.7674959G>C	UniProt,dbSNP
TP53	P04637	p.Pro191Arg	VAR_044986	missense variant	-	NC_000017.11:g.7674959G>C	UniProt
TP53	P04637	p.Pro191Leu	rs587778718	missense variant	-	NC_000017.11:g.7674959G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro191His	rs587778718	missense variant	-	NC_000017.11:g.7674959G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro191Thr	VAR_005945	Missense	-	-	UniProt
TP53	P04637	p.Gln192Ter	RCV000472712	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674957G>A	ClinVar
TP53	P04637	p.Gln192Ter	rs866380588	stop gained	-	NC_000017.11:g.7674957G>A	-
TP53	P04637	p.Gln192Arg	RCV000161029	missense variant	-	NC_000017.11:g.7674956T>C	ClinVar
TP53	P04637	p.Gln192Arg	rs730882002	missense variant	-	NC_000017.11:g.7674956T>C	-
TP53	P04637	p.Gln192Pro	VAR_044991	Missense	-	-	UniProt
TP53	P04637	p.Gln192_His193delinsHisTyr	VAR_047171	deletion_insertion	-	-	UniProt
TP53	P04637	p.Gln192His	VAR_044988	Missense	-	-	UniProt
TP53	P04637	p.Gln192Leu	VAR_044990	Missense	-	-	UniProt
TP53	P04637	p.Gln192_His193delinsHisAsn	VAR_047170	deletion_insertion	-	-	UniProt
TP53	P04637	p.Gln192Lys	VAR_044989	Missense	-	-	UniProt
TP53	P04637	p.His193Leu	RCV000697802	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674953T>A	ClinVar
TP53	P04637	p.His193Arg	RCV000428340	missense variant	-	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000435566	missense variant	Neoplasm of brain	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000423280	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000418749	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Pro	RCV000434205	missense variant	-	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asp	RCV000436250	missense variant	Neoplasm of brain	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Pro	RCV000418213	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Pro	RCV000440128	missense variant	Neoplasm of the breast	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000434391	missense variant	-	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000425998	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asp	RCV000442175	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asn	RCV000427057	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asp	RCV000436620	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000440641	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Arg	RCV000785346	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asp	RCV000429967	missense variant	Small cell lung cancer	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000444718	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000434704	missense variant	Neoplasm of the breast	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Pro	RCV000428877	missense variant	-	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000439433	missense variant	Neoplasm of brain	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000440111	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000441207	missense variant	Neoplasm of the breast	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Pro	RCV000442541	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Tyr	rs876658468	missense variant	-	NC_000017.11:g.7674954G>A	-
TP53	P04637	p.His193Tyr	rs876658468	missense variant	-	NC_000017.11:g.7674954G>A	UniProt,dbSNP
TP53	P04637	p.His193Tyr	VAR_044996	missense variant	-	NC_000017.11:g.7674954G>A	UniProt
TP53	P04637	p.His193Asn	rs876658468	missense variant	-	NC_000017.11:g.7674954G>T	-
TP53	P04637	p.His193Asn	rs876658468	missense variant	-	NC_000017.11:g.7674954G>T	UniProt,dbSNP
TP53	P04637	p.His193Asn	VAR_044993	missense variant	-	NC_000017.11:g.7674954G>T	UniProt
TP53	P04637	p.His193Tyr	RCV000221478	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asp	RCV000419924	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asn	RCV000422179	missense variant	-	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000419469	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Arg	RCV000423052	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asn	RCV000444677	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000419839	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000437380	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asn	RCV000422815	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Pro	RCV000422912	missense variant	Small cell lung cancer	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asn	RCV000432878	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Arg	RCV000429618	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000440903	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000444985	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000445148	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000435870	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000427668	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000418288	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000418086	missense variant	Neoplasm of the breast	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asp	RCV000425552	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asn	RCV000420192	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Pro	RCV000439568	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asn	RCV000428079	missense variant	-	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asp	RCV000441340	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000444740	missense variant	-	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Pro	RCV000423516	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Tyr	RCV000436284	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asn	RCV000437710	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Arg	RCV000434549	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asp	RCV000425919	missense variant	-	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asn	RCV000438671	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000423524	missense variant	-	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Arg	RCV000445029	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000441502	missense variant	Small cell lung cancer	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Pro	RCV000428197	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Pro	RCV000422374	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Pro	RCV000424851	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000164329	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000435420	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000435651	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000427767	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	RCV000417520	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Pro	RCV000433585	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000433342	missense variant	Small cell lung cancer	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asp	RCV000432462	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000425273	missense variant	-	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asn	RCV000441629	missense variant	Neoplasm of brain	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000431464	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asn	RCV000437420	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000426753	missense variant	Small cell lung cancer	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000809571	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000434647	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000430089	missense variant	Neoplasm of brain	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asn	RCV000420894	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Tyr	RCV000424900	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000432551	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Tyr	RCV000429902	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asp	RCV000431849	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000421204	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asn	RCV000432133	missense variant	Neoplasm of the breast	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asp	RCV000419005	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Pro	RCV000429577	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Arg	RCV000417979	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000460847	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Arg	RCV000425611	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Pro	rs786201838	missense variant	-	NC_000017.11:g.7674953T>G	UniProt,dbSNP
TP53	P04637	p.His193Pro	VAR_044994	missense variant	-	NC_000017.11:g.7674953T>G	UniProt
TP53	P04637	p.His193Arg	rs786201838	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674953T>C	UniProt,dbSNP
TP53	P04637	p.His193Arg	VAR_005948	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674953T>C	UniProt
TP53	P04637	p.His193Asp	rs876658468	missense variant	-	NC_000017.11:g.7674954G>C	UniProt,dbSNP
TP53	P04637	p.His193Asp	VAR_005947	missense variant	-	NC_000017.11:g.7674954G>C	UniProt
TP53	P04637	p.His193Asp	rs876658468	missense variant	-	NC_000017.11:g.7674954G>C	-
TP53	P04637	p.His193Leu	rs786201838	missense variant	-	NC_000017.11:g.7674953T>A	UniProt,dbSNP
TP53	P04637	p.His193Leu	VAR_044992	missense variant	-	NC_000017.11:g.7674953T>A	UniProt
TP53	P04637	p.His193Tyr	RCV000412758	missense variant	-	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Arg	RCV000424475	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asp	RCV000418378	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Pro	RCV000445292	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Asn	RCV000430888	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000439335	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asp	RCV000421156	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000426264	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Arg	RCV000255425	missense variant	-	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asp	RCV000438391	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asp	RCV000430614	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Asn	RCV000419544	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asp	RCV000423999	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674954G>C	ClinVar
TP53	P04637	p.His193Tyr	RCV000445008	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674954G>A	ClinVar
TP53	P04637	p.His193Asn	RCV000421458	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Asn	RCV000433595	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Arg	RCV000439827	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674953T>C	ClinVar
TP53	P04637	p.His193Asn	RCV000441851	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674954G>T	ClinVar
TP53	P04637	p.His193Pro	RCV000434933	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674953T>G	ClinVar
TP53	P04637	p.His193Gln	VAR_044995	Missense	-	-	UniProt
TP53	P04637	p.Leu194His	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>T	UniProt,dbSNP
TP53	P04637	p.Leu194His	VAR_044998	missense variant	-	NC_000017.11:g.7674950A>T	UniProt
TP53	P04637	p.Leu194Pro	RCV000423937	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000433582	missense variant	Neoplasm of brain	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194His	RCV000565549	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674950A>T	ClinVar
TP53	P04637	p.Leu194Pro	RCV000441162	missense variant	Glioblastoma	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000442808	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000424516	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Arg	RCV000535418	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674950A>C	ClinVar
TP53	P04637	p.Leu194Pro	RCV000441887	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Phe	RCV000439843	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000429595	missense variant	Neoplasm of brain	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Arg	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>C	gnomAD
TP53	P04637	p.Leu194Phe	RCV000421548	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000428029	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000417813	missense variant	Neoplasm of the breast	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000419908	missense variant	Glioblastoma	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000436065	missense variant	-	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000439186	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000426684	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000418414	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000115728	missense variant	-	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	RCV000434383	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674951G>A	ClinVar
TP53	P04637	p.Leu194Phe	rs587780071	missense variant	-	NC_000017.11:g.7674951G>A	UniProt,dbSNP
TP53	P04637	p.Leu194Phe	VAR_044997	missense variant	-	NC_000017.11:g.7674951G>A	UniProt
TP53	P04637	p.Leu194Phe	rs587780071	missense variant	-	NC_000017.11:g.7674951G>A	-
TP53	P04637	p.Leu194Pro	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>G	gnomAD
TP53	P04637	p.Leu194Arg	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>C	UniProt,dbSNP
TP53	P04637	p.Leu194Arg	VAR_005950	missense variant	-	NC_000017.11:g.7674950A>C	UniProt
TP53	P04637	p.Leu194Pro	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>G	UniProt,dbSNP
TP53	P04637	p.Leu194Pro	VAR_005949	missense variant	-	NC_000017.11:g.7674950A>G	UniProt
TP53	P04637	p.Leu194Pro	RCV000426810	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000433343	missense variant	-	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000436323	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Pro	RCV000425646	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194Arg	RCV000561306	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674950A>C	ClinVar
TP53	P04637	p.Leu194Pro	RCV000419057	missense variant	Neoplasm of the breast	NC_000017.11:g.7674950A>G	ClinVar
TP53	P04637	p.Leu194His	rs1057519998	missense variant	-	NC_000017.11:g.7674950A>T	gnomAD
TP53	P04637	p.Leu194Val	VAR_045000	Missense	-	-	UniProt
TP53	P04637	p.Leu194Ile	VAR_044999	Missense	-	-	UniProt
TP53	P04637	p.Ile195Asn	rs760043106	missense variant	-	NC_000017.11:g.7674947A>T	ExAC,gnomAD
TP53	P04637	p.Ile195Thr	rs760043106	missense variant	-	NC_000017.11:g.7674947A>G	UniProt,dbSNP
TP53	P04637	p.Ile195Thr	VAR_005951	missense variant	-	NC_000017.11:g.7674947A>G	UniProt
TP53	P04637	p.Ile195Met	RCV000633400	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674946G>C	ClinVar
TP53	P04637	p.Ile195Phe	RCV000433525	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000441219	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000426094	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000417891	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000436319	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000426791	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000423573	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000420717	missense variant	Neoplasm of the breast	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000435534	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000433861	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000444892	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000438337	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000428137	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000425266	missense variant	Glioblastoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Ser	RCV000421312	missense variant	Neoplasm of the breast	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000442296	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000422467	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000445057	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000427622	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000431547	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ter	RCV000785262	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674950del	ClinVar
TP53	P04637	p.Ile195Ser	RCV000437865	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000437242	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000426991	missense variant	Neoplasm of brain	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000439461	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Asn	RCV000692717	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674947A>T	ClinVar
TP53	P04637	p.Ile195Ser	RCV000429226	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000421805	missense variant	Glioblastoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000429901	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Ser	RCV000442729	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Thr	rs760043106	missense variant	-	NC_000017.11:g.7674947A>G	ExAC,gnomAD
TP53	P04637	p.Ile195Asn	rs760043106	missense variant	-	NC_000017.11:g.7674947A>T	UniProt,dbSNP
TP53	P04637	p.Ile195Asn	VAR_045002	missense variant	-	NC_000017.11:g.7674947A>T	UniProt
TP53	P04637	p.Ile195Ser	rs760043106	missense variant	-	NC_000017.11:g.7674947A>C	ExAC,gnomAD
TP53	P04637	p.Ile195Ser	rs760043106	missense variant	-	NC_000017.11:g.7674947A>C	UniProt,dbSNP
TP53	P04637	p.Ile195Ser	VAR_045003	missense variant	-	NC_000017.11:g.7674947A>C	UniProt
TP53	P04637	p.Ile195Phe	rs942158624	missense variant	-	NC_000017.11:g.7674948T>A	-
TP53	P04637	p.Ile195Thr	RCV000198789	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674947A>G	ClinVar
TP53	P04637	p.Ile195Ser	RCV000432185	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Thr	RCV000487386	missense variant	-	NC_000017.11:g.7674947A>G	ClinVar
TP53	P04637	p.Ile195Ser	RCV000440129	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674947A>C	ClinVar
TP53	P04637	p.Ile195Phe	RCV000418677	missense variant	Neoplasm of brain	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Phe	RCV000430955	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674948T>A	ClinVar
TP53	P04637	p.Ile195Leu	VAR_047172	Missense	-	-	UniProt
TP53	P04637	p.Ile195Val	VAR_045004	Missense	-	-	UniProt
TP53	P04637	p.Ile195Tyr	VAR_045806	Missense	-	-	UniProt
TP53	P04637	p.Arg196Pro	rs483352697	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674944C>G	UniProt,dbSNP
TP53	P04637	p.Arg196Pro	VAR_045007	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674944C>G	UniProt
TP53	P04637	p.Arg196Leu	rs483352697	missense variant	-	NC_000017.11:g.7674944C>A	gnomAD
TP53	P04637	p.Arg196Gly	RCV000230517	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674945G>C	ClinVar
TP53	P04637	p.Arg196Pro	RCV000440866	missense variant	Glioblastoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000440531	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000435372	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000443813	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000431695	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Gln	RCV000196467	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674944C>T	ClinVar
TP53	P04637	p.Arg196Pro	RCV000434064	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000423798	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000436292	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000426017	missense variant	-	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000216410	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000425092	missense variant	Neoplasm of the breast	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Leu	RCV000087172	missense variant	-	NC_000017.11:g.7674944C>A	ClinVar
TP53	P04637	p.Arg196Pro	RCV000443927	missense variant	Neoplasm of brain	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000419494	missense variant	Small cell lung cancer	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Ter	RCV000205265	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674945G>A	ClinVar
TP53	P04637	p.Arg196Ter	RCV000131510	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674945G>A	ClinVar
TP53	P04637	p.Arg196Ter	RCV000785329	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674945G>A	ClinVar
TP53	P04637	p.Arg196Pro	RCV000429772	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Pro	RCV000427483	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Gln	RCV000235733	missense variant	-	NC_000017.11:g.7674944C>T	ClinVar
TP53	P04637	p.Arg196Gly	RCV000217052	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674945G>C	ClinVar
TP53	P04637	p.Arg196Pro	RCV000433800	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Gln	RCV000580263	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674944C>T	ClinVar
TP53	P04637	p.Arg196Pro	RCV000418400	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674944C>G	ClinVar
TP53	P04637	p.Arg196Ter	RCV000412710	nonsense	-	NC_000017.11:g.7674945G>A	ClinVar
TP53	P04637	p.Arg196Gln	rs483352697	missense variant	-	NC_000017.11:g.7674944C>T	UniProt,dbSNP
TP53	P04637	p.Arg196Gln	VAR_045008	missense variant	-	NC_000017.11:g.7674944C>T	UniProt
TP53	P04637	p.Arg196Gln	rs483352697	missense variant	-	NC_000017.11:g.7674944C>T	gnomAD
TP53	P04637	p.Arg196Pro	rs483352697	missense variant	-	NC_000017.11:g.7674944C>G	gnomAD
TP53	P04637	p.Arg196Gly	rs397516435	missense variant	-	NC_000017.11:g.7674945G>C	UniProt,dbSNP
TP53	P04637	p.Arg196Gly	VAR_045005	missense variant	-	NC_000017.11:g.7674945G>C	UniProt
TP53	P04637	p.Arg196Gly	rs397516435	missense variant	-	NC_000017.11:g.7674945G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg196Ter	rs397516435	stop gained	-	NC_000017.11:g.7674945G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg196Leu	rs483352697	missense variant	-	NC_000017.11:g.7674944C>A	UniProt,dbSNP
TP53	P04637	p.Arg196Leu	VAR_045006	missense variant	-	NC_000017.11:g.7674944C>A	UniProt
TP53	P04637	p.Arg196Ser	VAR_045009	Missense	-	-	UniProt
TP53	P04637	p.Val197Leu	RCV000198322	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674942C>A	ClinVar
TP53	P04637	p.Val197Leu	RCV000566652	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674942C>G	ClinVar
TP53	P04637	p.Val197Met	RCV000167874	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674942C>T	ClinVar
TP53	P04637	p.Val197Glu	RCV000785480	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674941A>T	ClinVar
TP53	P04637	p.Val197Met	rs786204041	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674942C>T	UniProt,dbSNP
TP53	P04637	p.Val197Met	VAR_045013	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674942C>T	UniProt
TP53	P04637	p.Val197Met	rs786204041	missense variant	-	NC_000017.11:g.7674942C>T	gnomAD
TP53	P04637	p.Val197Leu	rs786204041	missense variant	-	NC_000017.11:g.7674942C>A	gnomAD
TP53	P04637	p.Val197Leu	rs786204041	missense variant	-	NC_000017.11:g.7674942C>G	gnomAD
TP53	P04637	p.Val197Leu	rs786204041	missense variant	-	NC_000017.11:g.7674942C>G	UniProt,dbSNP
TP53	P04637	p.Val197Leu	VAR_045012	missense variant	-	NC_000017.11:g.7674942C>G	UniProt
TP53	P04637	p.Val197Glu	RCV000811803	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674941A>T	ClinVar
TP53	P04637	p.Val197Glu	VAR_045010	Missense	-	-	UniProt
TP53	P04637	p.Val197Gly	VAR_045011	Missense	-	-	UniProt
TP53	P04637	p.Glu198Ter	RCV000492785	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674940del	ClinVar
TP53	P04637	p.Glu198Ter	RCV000785326	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674939C>A	ClinVar
TP53	P04637	p.Glu198Lys	VAR_005952	Missense	-	-	UniProt
TP53	P04637	p.Glu198Gly	VAR_045015	Missense	-	-	UniProt
TP53	P04637	p.Glu198Gln	VAR_045016	Missense	-	-	UniProt
TP53	P04637	p.Glu198Asp	VAR_045014	Missense	-	-	UniProt
TP53	P04637	p.Glu198Val	VAR_045017	Missense	-	-	UniProt
TP53	P04637	p.Gly199Ter	RCV000785258	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674936C>A	ClinVar
TP53	P04637	p.Gly199Val	RCV000522967	missense variant	-	NC_000017.11:g.7674935C>A	ClinVar
TP53	P04637	p.Gly199Val	rs1555525857	missense variant	-	NC_000017.11:g.7674935C>A	-
TP53	P04637	p.Gly199Val	rs1555525857	missense variant	-	NC_000017.11:g.7674935C>A	UniProt,dbSNP
TP53	P04637	p.Gly199Val	VAR_045021	missense variant	-	NC_000017.11:g.7674935C>A	UniProt
TP53	P04637	p.Gly199Glu	RCV000706290	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674935C>T	ClinVar
TP53	P04637	p.Gly199Arg	VAR_045020	Missense	-	-	UniProt
TP53	P04637	p.Gly199Ala	VAR_045018	Missense	-	-	UniProt
TP53	P04637	p.Gly199Glu	VAR_045019	Missense	-	-	UniProt
TP53	P04637	p.Asn200Ter	RCV000492564	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674934del	ClinVar
TP53	P04637	p.Asn200Pro	VAR_045807	Missense	-	-	UniProt
TP53	P04637	p.Asn200Ile	VAR_045023	Missense	-	-	UniProt
TP53	P04637	p.Asn200Ser	VAR_045025	Missense	-	-	UniProt
TP53	P04637	p.Asn200Lys	VAR_045024	Missense	-	-	UniProt
TP53	P04637	p.Asn200Asp	VAR_045022	Missense	-	-	UniProt
TP53	P04637	p.Asn200Thr	VAR_045026	Missense	-	-	UniProt
TP53	P04637	p.Leu201Phe	rs730882024	missense variant	-	NC_000017.11:g.7674928C>A	TOPMed
TP53	P04637	p.Leu201Ser	VAR_045029	Missense	-	-	UniProt
TP53	P04637	p.Leu201Pro	VAR_045028	Missense	-	-	UniProt
TP53	P04637	p.Leu201_Arg202delinsPheCys	VAR_047173	deletion_insertion	-	-	UniProt
TP53	P04637	p.Arg202Leu	rs587778719	missense variant	-	NC_000017.11:g.7674926C>A	UniProt,dbSNP
TP53	P04637	p.Arg202Leu	VAR_045033	missense variant	-	NC_000017.11:g.7674926C>A	UniProt
TP53	P04637	p.Arg202Gly	RCV000218191	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674927G>C	ClinVar
TP53	P04637	p.Arg202Cys	RCV000563913	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674927G>A	ClinVar
TP53	P04637	p.Arg202Leu	RCV000161030	missense variant	-	NC_000017.11:g.7674926C>A	ClinVar
TP53	P04637	p.Arg202His	RCV000459232	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674926C>T	ClinVar
TP53	P04637	p.Arg202Cys	rs587780072	missense variant	-	NC_000017.11:g.7674927G>A	UniProt,dbSNP
TP53	P04637	p.Arg202Cys	VAR_045030	missense variant	-	NC_000017.11:g.7674927G>A	UniProt
TP53	P04637	p.Arg202Leu	rs587778719	missense variant	-	NC_000017.11:g.7674926C>A	TOPMed
TP53	P04637	p.Arg202Cys	rs587780072	missense variant	-	NC_000017.11:g.7674927G>A	ExAC,gnomAD
TP53	P04637	p.Arg202Gly	rs587780072	missense variant	-	NC_000017.11:g.7674927G>C	ExAC,gnomAD
TP53	P04637	p.Arg202Gly	rs587780072	missense variant	-	NC_000017.11:g.7674927G>C	UniProt,dbSNP
TP53	P04637	p.Arg202Gly	VAR_045031	missense variant	-	NC_000017.11:g.7674927G>C	UniProt
TP53	P04637	p.Arg202His	rs587778719	missense variant	-	NC_000017.11:g.7674926C>T	TOPMed
TP53	P04637	p.Arg202His	rs587778719	missense variant	-	NC_000017.11:g.7674926C>T	UniProt,dbSNP
TP53	P04637	p.Arg202His	VAR_045032	missense variant	-	NC_000017.11:g.7674926C>T	UniProt
TP53	P04637	p.Arg202Ser	VAR_045035	Missense	-	-	UniProt
TP53	P04637	p.Arg202Pro	VAR_045034	Missense	-	-	UniProt
TP53	P04637	p.Val203Leu	rs730882003	missense variant	-	NC_000017.11:g.7674924C>A	-
TP53	P04637	p.Val203Met	RCV000460914	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674924C>T	ClinVar
TP53	P04637	p.Val203Leu	RCV000695145	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674924C>A	ClinVar
TP53	P04637	p.Val203Leu	RCV000564049	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674924C>G	ClinVar
TP53	P04637	p.Val203Met	rs730882003	missense variant	-	NC_000017.11:g.7674924C>T	-
TP53	P04637	p.Val203Leu	rs730882003	missense variant	-	NC_000017.11:g.7674924C>G	-
TP53	P04637	p.Val203Leu	RCV000564461	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674924C>A	ClinVar
TP53	P04637	p.Val203Met	RCV000492177	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674924C>T	ClinVar
TP53	P04637	p.Val203Met	RCV000161031	missense variant	-	NC_000017.11:g.7674924C>T	ClinVar
TP53	P04637	p.Val203Leu	RCV000696578	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674924C>G	ClinVar
TP53	P04637	p.Val203_Glu204delinsLeuVal	VAR_047174	deletion_insertion	-	-	UniProt
TP53	P04637	p.Val203Glu	VAR_045037	Missense	-	-	UniProt
TP53	P04637	p.Val203Leu	VAR_045038	Missense	-	-	UniProt
TP53	P04637	p.Val203Ala	VAR_045036	Missense	-	-	UniProt
TP53	P04637	p.Val203Trp	VAR_045808	Missense	-	-	UniProt
TP53	P04637	p.Glu204Gly	rs1260903787	missense variant	-	NC_000017.11:g.7674920T>C	TOPMed,gnomAD
TP53	P04637	p.Glu204Ter	RCV000785499	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674921_7674922delinsAG	ClinVar
TP53	P04637	p.Glu204Ala	VAR_045040	Missense	-	-	UniProt
TP53	P04637	p.Glu204Val	VAR_045045	Missense	-	-	UniProt
TP53	P04637	p.Glu204Gln	VAR_045044	Missense	-	-	UniProt
TP53	P04637	p.Glu204Asp	VAR_045041	Missense	-	-	UniProt
TP53	P04637	p.Glu204Lys	VAR_045043	Missense	-	-	UniProt
TP53	P04637	p.Tyr205Asn	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>T	UniProt,dbSNP
TP53	P04637	p.Tyr205Asn	VAR_045047	missense variant	-	NC_000017.11:g.7674918A>T	UniProt
TP53	P04637	p.Tyr205Cys	RCV000437254	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000437968	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000422784	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000422077	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000427034	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000424176	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000417461	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000440868	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000431652	missense variant	Glioblastoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000444368	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000437249	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000426051	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000433698	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000428672	missense variant	Neoplasm of brain	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000424892	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000430958	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000422980	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000421235	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000437987	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000420753	missense variant	Neoplasm of the breast	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000443853	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000427749	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000423862	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000430575	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000424047	missense variant	Neoplasm of the breast	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000430410	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000432320	missense variant	Neoplasm of the breast	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000428760	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000434394	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000429233	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000421916	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000443993	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000426974	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000439588	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000436627	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Asp	RCV000462351	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674918A>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000443828	missense variant	Neoplasm of brain	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000433236	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000444287	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000436591	missense variant	Neoplasm of brain	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000418952	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000424901	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000433474	missense variant	Glioblastoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000443687	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000431494	missense variant	Glioblastoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000443239	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000441249	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000430294	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000417872	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000429897	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000442863	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Asp	RCV000663307	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674918A>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000440667	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000704312	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000419588	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Phe	RCV000438926	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674917T>A	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000418906	missense variant	Glioblastoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Cys	RCV000439980	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674917T>C	ClinVar
TP53	P04637	p.Tyr205Ter	RCV000164938	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674916A>T	ClinVar
TP53	P04637	p.Tyr205Asp	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>C	UniProt,dbSNP
TP53	P04637	p.Tyr205Asp	VAR_005954	missense variant	-	NC_000017.11:g.7674918A>C	UniProt
TP53	P04637	p.Tyr205Phe	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>A	-
TP53	P04637	p.Tyr205Phe	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>A	UniProt,dbSNP
TP53	P04637	p.Tyr205Phe	VAR_047175	missense variant	-	NC_000017.11:g.7674917T>A	UniProt
TP53	P04637	p.Tyr205Cys	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>C	UniProt,dbSNP
TP53	P04637	p.Tyr205Cys	VAR_005953	missense variant	-	NC_000017.11:g.7674917T>C	UniProt
TP53	P04637	p.Tyr205Cys	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>C	-
TP53	P04637	p.Tyr205His	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>G	gnomAD
TP53	P04637	p.Tyr205Ter	rs786202222	stop gained	-	NC_000017.11:g.7674916A>T	gnomAD
TP53	P04637	p.Tyr205His	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>G	UniProt,dbSNP
TP53	P04637	p.Tyr205His	VAR_045046	missense variant	-	NC_000017.11:g.7674918A>G	UniProt
TP53	P04637	p.Tyr205Ser	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>G	UniProt,dbSNP
TP53	P04637	p.Tyr205Ser	VAR_045048	missense variant	-	NC_000017.11:g.7674917T>G	UniProt
TP53	P04637	p.Tyr205Ser	rs1057520007	missense variant	-	NC_000017.11:g.7674917T>G	-
TP53	P04637	p.Tyr205Asp	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>C	gnomAD
TP53	P04637	p.Tyr205Ser	RCV000428105	missense variant	Neoplasm of the breast	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205His	RCV000819983	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674918A>G	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000438368	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000419577	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000424682	missense variant	Neoplasm of brain	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000441202	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205His	RCV000775886	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674918A>G	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000426347	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000432365	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Ser	RCV000435531	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674917T>G	ClinVar
TP53	P04637	p.Tyr205Asn	RCV000435608	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674918A>T	ClinVar
TP53	P04637	p.Tyr205Asn	rs1057520008	missense variant	-	NC_000017.11:g.7674918A>T	gnomAD
TP53	P04637	p.Leu206Ser	RCV000507226	missense variant	-	NC_000017.11:g.7674914A>G	ClinVar
TP53	P04637	p.Leu206Met	VAR_045050	Missense	-	-	UniProt
TP53	P04637	p.Leu206Phe	VAR_045049	Missense	-	-	UniProt
TP53	P04637	p.Asp207Gly	VAR_045052	Missense	-	-	UniProt
TP53	P04637	p.Asp207Tyr	VAR_045056	Missense	-	-	UniProt
TP53	P04637	p.Asp207_Asp208delinsGluTyr	VAR_047176	deletion_insertion	-	-	UniProt
TP53	P04637	p.Asp207His	VAR_045053	Missense	-	-	UniProt
TP53	P04637	p.Asp207Val	VAR_045055	Missense	-	-	UniProt
TP53	P04637	p.Asp207Glu	VAR_045051	Missense	-	-	UniProt
TP53	P04637	p.Asp208Gly	RCV000709405	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674908T>C	ClinVar
TP53	P04637	p.Asp208Val	rs1464727668	missense variant	-	NC_000017.11:g.7674908T>A	UniProt,dbSNP
TP53	P04637	p.Asp208Val	VAR_045061	missense variant	-	NC_000017.11:g.7674908T>A	UniProt
TP53	P04637	p.Asp208Val	rs1464727668	missense variant	-	NC_000017.11:g.7674908T>A	-
TP53	P04637	p.Asp208His	VAR_045059	Missense	-	-	UniProt
TP53	P04637	p.Asp208Tyr	VAR_045062	Missense	-	-	UniProt
TP53	P04637	p.Asp208Glu	VAR_045057	Missense	-	-	UniProt
TP53	P04637	p.Asp208Asn	VAR_045060	Missense	-	-	UniProt
TP53	P04637	p.Asp208Gly	VAR_045058	Missense	-	-	UniProt
TP53	P04637	p.Asp208Ile	VAR_045809	Missense	-	-	UniProt
TP53	P04637	p.Arg209Ter	RCV000539085	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674905_7674906del	ClinVar
TP53	P04637	p.Arg209Ter	RCV000492427	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674905_7674906del	ClinVar
TP53	P04637	p.Arg209Ter	RCV000414120	frameshift	-	NC_000017.11:g.7674905_7674906del	ClinVar
TP53	P04637	p.Arg209Gly	RCV000771676	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674906T>C	ClinVar
TP53	P04637	p.Arg209Ter	rs1429743956	stop gained	-	NC_000017.11:g.7674906T>A	-
TP53	P04637	p.Arg209Ter	RCV000785270	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674905_7674906del	ClinVar
TP53	P04637	p.Arg209Lys	VAR_045064	Missense	-	-	UniProt
TP53	P04637	p.Arg209Thr	VAR_045066	Missense	-	-	UniProt
TP53	P04637	p.Arg209Ile	VAR_045063	Missense	-	-	UniProt
TP53	P04637	p.Arg209Ser	VAR_045065	Missense	-	-	UniProt
TP53	P04637	p.Asn210Tyr	RCV000466733	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674903T>A	ClinVar
TP53	P04637	p.Asn210Ter	RCV000013156	frameshift	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674903_7674904del	ClinVar
TP53	P04637	p.Asn210Tyr	rs1060501200	missense variant	-	NC_000017.11:g.7674903T>A	-
TP53	P04637	p.Asn210His	VAR_045068	Missense	-	-	UniProt
TP53	P04637	p.Asn210Ser	VAR_045071	Missense	-	-	UniProt
TP53	P04637	p.Asn210Lys	VAR_045070	Missense	-	-	UniProt
TP53	P04637	p.Asn210Thr	VAR_045072	Missense	-	-	UniProt
TP53	P04637	p.Asn210Ile	VAR_045069	Missense	-	-	UniProt
TP53	P04637	p.Asn210Asp	VAR_045067	Missense	-	-	UniProt
TP53	P04637	p.Thr211Pro	RCV000633327	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674900T>G	ClinVar
TP53	P04637	p.Thr211Ala	RCV000469438	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674900T>C	ClinVar
TP53	P04637	p.Thr211Pro	rs1060501198	missense variant	-	NC_000017.11:g.7674900T>G	-
TP53	P04637	p.Thr211Ala	rs1060501198	missense variant	-	NC_000017.11:g.7674900T>C	-
TP53	P04637	p.Thr211Pro	VAR_045077	Missense	-	-	UniProt
TP53	P04637	p.Thr211Asn	VAR_045076	Missense	-	-	UniProt
TP53	P04637	p.Thr211Ser	VAR_045078	Missense	-	-	UniProt
TP53	P04637	p.Thr211Ile	VAR_045075	Missense	-	-	UniProt
TP53	P04637	p.Phe212Ter	RCV000785471	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674897_7674898del	ClinVar
TP53	P04637	p.Phe212Ile	RCV000486339	missense variant	-	NC_000017.11:g.7674897A>T	ClinVar
TP53	P04637	p.Phe212Ile	RCV000687495	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674897A>T	ClinVar
TP53	P04637	p.Phe212Ter	RCV000492303	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674897_7674898del	ClinVar
TP53	P04637	p.Phe212Ile	rs1064795766	missense variant	-	NC_000017.11:g.7674897A>T	-
TP53	P04637	p.Phe212Ile	rs1064795766	missense variant	-	NC_000017.11:g.7674897A>T	UniProt,dbSNP
TP53	P04637	p.Phe212Ile	VAR_045079	missense variant	-	NC_000017.11:g.7674897A>T	UniProt
TP53	P04637	p.Phe212Ile	RCV000492242	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674897A>T	ClinVar
TP53	P04637	p.Phe212Tyr	VAR_045083	Missense	-	-	UniProt
TP53	P04637	p.Phe212Ser	VAR_045081	Missense	-	-	UniProt
TP53	P04637	p.Phe212Val	VAR_045082	Missense	-	-	UniProt
TP53	P04637	p.Phe212Leu	VAR_045080	Missense	-	-	UniProt
TP53	P04637	p.Arg213Pro	rs587778720	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674893C>G	UniProt,dbSNP
TP53	P04637	p.Arg213Pro	VAR_036506	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674893C>G	UniProt
TP53	P04637	p.Arg213Leu	rs587778720	missense variant	-	NC_000017.11:g.7674893C>A	UniProt,dbSNP
TP53	P04637	p.Arg213Leu	VAR_045085	missense variant	-	NC_000017.11:g.7674893C>A	UniProt
TP53	P04637	p.Arg213Gly	RCV000444193	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000432206	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Leu	RCV000428841	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000422684	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000430949	missense variant	Neoplasm of brain	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000438186	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Leu	RCV000433789	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000428146	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000417479	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Leu	RCV000437481	missense variant	-	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000421737	missense variant	Neoplasm of brain	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000439979	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Ter	RCV000785330	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000435387	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Ter	RCV000202592	frameshift	Acute megakaryoblastic leukemia	NC_000017.11:g.7674898del	ClinVar
TP53	P04637	p.Arg213Gln	RCV000626448	missense variant	-	NC_000017.11:g.7674893C>T	ClinVar
TP53	P04637	p.Arg213Leu	RCV000438469	missense variant	Adenoid cystic carcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000444980	missense variant	Neoplasm of the breast	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Ter	RCV000780783	nonsense	-	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000428488	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000426799	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000419627	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Ter	RCV000115730	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000437472	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000420272	missense variant	Glioblastoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Ter	RCV000144672	nonsense	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Ter	RCV000213050	nonsense	-	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000436862	missense variant	-	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000431481	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000421648	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000438834	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Leu	RCV000418814	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000445195	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000444469	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000439587	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000443648	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000427500	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000432738	missense variant	-	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000417467	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000435132	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000422458	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000421524	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Ter	RCV000036532	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674894G>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000427240	missense variant	Glioblastoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000432863	missense variant	-	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000425630	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Pro	RCV000220461	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674893C>G	ClinVar
TP53	P04637	p.Arg213Gly	RCV000426157	missense variant	Adenoid cystic carcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000424254	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Gly	RCV000428823	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Leu	RCV000428624	missense variant	Neoplasm of the breast	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Leu	RCV000418608	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674893C>A	ClinVar
TP53	P04637	p.Arg213Gly	RCV000438677	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674894G>C	ClinVar
TP53	P04637	p.Arg213Ter	rs397516436	stop gained	-	NC_000017.11:g.7674894G>A	ExAC
TP53	P04637	p.Arg213Gly	rs397516436	missense variant	-	NC_000017.11:g.7674894G>C	UniProt,dbSNP
TP53	P04637	p.Arg213Gly	VAR_045084	missense variant	-	NC_000017.11:g.7674894G>C	UniProt
TP53	P04637	p.Arg213Gln	rs587778720	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674893C>T	UniProt,dbSNP
TP53	P04637	p.Arg213Gln	VAR_005955	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674893C>T	UniProt
TP53	P04637	p.Arg213Gln	rs587778720	missense variant	-	NC_000017.11:g.7674893C>T	ExAC,gnomAD
TP53	P04637	p.Arg213Pro	rs587778720	missense variant	-	NC_000017.11:g.7674893C>G	ExAC,gnomAD
TP53	P04637	p.Arg213Gly	rs397516436	missense variant	-	NC_000017.11:g.7674894G>C	ExAC
TP53	P04637	p.Arg213Leu	rs587778720	missense variant	-	NC_000017.11:g.7674893C>A	ExAC,gnomAD
TP53	P04637	p.Arg213Trp	VAR_045086	Missense	-	-	UniProt
TP53	P04637	p.His214Asn	RCV000803678	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674891G>T	ClinVar
TP53	P04637	p.His214Leu	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>A	gnomAD
TP53	P04637	p.His214Asn	rs876658466	missense variant	-	NC_000017.11:g.7674891G>T	-
TP53	P04637	p.His214Gln	rs587781386	missense variant	-	NC_000017.11:g.7674889A>C	UniProt,dbSNP
TP53	P04637	p.His214Gln	VAR_047177	missense variant	-	NC_000017.11:g.7674889A>C	UniProt
TP53	P04637	p.His214Leu	RCV000421427	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000442701	missense variant	-	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000445284	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000440391	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000431675	missense variant	Glioblastoma	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000444957	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000423188	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Arg	RCV000477234	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674890T>C	ClinVar
TP53	P04637	p.His214Leu	RCV000427039	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Gln	RCV000410083	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674889A>C	ClinVar
TP53	P04637	p.His214Arg	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>C	gnomAD
TP53	P04637	p.His214Gln	rs587781386	missense variant	-	NC_000017.11:g.7674889A>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.His214Arg	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>C	UniProt,dbSNP
TP53	P04637	p.His214Arg	VAR_045089	missense variant	-	NC_000017.11:g.7674890T>C	UniProt
TP53	P04637	p.His214Pro	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>G	UniProt,dbSNP
TP53	P04637	p.His214Pro	VAR_045088	missense variant	-	NC_000017.11:g.7674890T>G	UniProt
TP53	P04637	p.His214Pro	rs1057519992	missense variant	-	NC_000017.11:g.7674890T>G	gnomAD
TP53	P04637	p.His214Leu	RCV000433885	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000437948	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Leu	RCV000427702	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674890T>A	ClinVar
TP53	P04637	p.His214Asn	RCV000214223	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674891G>T	ClinVar
TP53	P04637	p.His214Asp	VAR_045087	Missense	-	-	UniProt
TP53	P04637	p.His214Tyr	VAR_045090	Missense	-	-	UniProt
TP53	P04637	p.Ser215Arg	RCV000421044	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000437603	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000425174	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000432876	missense variant	Small cell lung cancer	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000785463	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000422178	missense variant	Neoplasm of the breast	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Ile	RCV000785347	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000422423	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000441630	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000423774	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000429840	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000432107	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Gly	RCV000772138	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674888T>C	ClinVar
TP53	P04637	p.Ser215Ile	RCV000433950	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000434496	missense variant	Neoplasm of the breast	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000435696	missense variant	Neoplasm of the breast	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000438643	missense variant	Small cell lung cancer	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000423272	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Ile	RCV000420217	missense variant	Small cell lung cancer	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Asn	RCV000492171	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Asn	RCV000427974	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Asn	RCV000443221	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ter	RCV000581621	frameshift	-	NC_000017.11:g.7674887_7674888dup	ClinVar
TP53	P04637	p.Ser215Ter	RCV000785298	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674888dup	ClinVar
TP53	P04637	p.Ser215Thr	RCV000130796	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674887C>G	ClinVar
TP53	P04637	p.Ser215Asn	RCV000442434	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Asn	RCV000421424	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674887C>T	ClinVar
TP53	P04637	p.Ser215Ile	RCV000420881	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Ile	RCV000430889	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Ile	RCV000440493	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674887C>A	ClinVar
TP53	P04637	p.Ser215Arg	rs1057520001	missense variant	-	NC_000017.11:g.7674886A>C	UniProt,dbSNP
TP53	P04637	p.Ser215Arg	VAR_045095	missense variant	-	NC_000017.11:g.7674886A>C	UniProt
TP53	P04637	p.Ser215Asn	rs587782177	missense variant	-	NC_000017.11:g.7674887C>T	UniProt,dbSNP
TP53	P04637	p.Ser215Asn	VAR_045094	missense variant	-	NC_000017.11:g.7674887C>T	UniProt
TP53	P04637	p.Ser215Thr	rs587782177	missense variant	-	NC_000017.11:g.7674887C>G	UniProt,dbSNP
TP53	P04637	p.Ser215Thr	VAR_045096	missense variant	-	NC_000017.11:g.7674887C>G	UniProt
TP53	P04637	p.Ser215Ile	rs587782177	missense variant	-	NC_000017.11:g.7674887C>A	UniProt,dbSNP
TP53	P04637	p.Ser215Ile	VAR_045093	missense variant	-	NC_000017.11:g.7674887C>A	UniProt
TP53	P04637	p.Ser215Arg	RCV000439391	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000442610	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000431745	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000442691	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674886A>C	ClinVar
TP53	P04637	p.Ser215Gly	RCV000700891	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674888T>C	ClinVar
TP53	P04637	p.Ser215Arg	RCV000492567	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674888T>G	ClinVar
TP53	P04637	p.Ser215Cys	VAR_045091	Missense	-	-	UniProt
TP53	P04637	p.Ser215Lys	VAR_045810	Missense	-	-	UniProt
TP53	P04637	p.Val216Glu	rs1057520004	missense variant	-	NC_000017.11:g.7674884A>T	UniProt,dbSNP
TP53	P04637	p.Val216Glu	VAR_045098	missense variant	-	NC_000017.11:g.7674884A>T	UniProt
TP53	P04637	p.Val216Glu	rs1057520004	missense variant	-	NC_000017.11:g.7674884A>T	-
TP53	P04637	p.Val216Leu	rs730882025	missense variant	-	NC_000017.11:g.7674885C>A	-
TP53	P04637	p.Val216Glu	RCV000418104	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000424832	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000429571	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000419558	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000439819	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000418474	missense variant	-	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Gly	RCV000424582	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000440155	missense variant	Neoplasm of brain	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Glu	RCV000434860	missense variant	Neoplasm of the breast	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Gly	RCV000433620	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000439990	missense variant	Neoplasm of the breast	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Glu	RCV000423283	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Gly	RCV000442891	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000423344	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000442920	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Glu	RCV000436131	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Glu	RCV000429825	missense variant	Glioblastoma	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Leu	RCV000437749	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000427972	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000420083	missense variant	Neoplasm of brain	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000785309	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Met	RCV000583984	missense variant	-	NC_000017.11:g.7674885C>T	ClinVar
TP53	P04637	p.Val216Leu	RCV000442710	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Met	RCV000663213	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674885C>T	ClinVar
TP53	P04637	p.Val216Leu	RCV000431215	missense variant	Neoplasm of the breast	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Gly	rs1057520004	missense variant	-	NC_000017.11:g.7674884A>C	UniProt,dbSNP
TP53	P04637	p.Val216Gly	VAR_045099	missense variant	-	NC_000017.11:g.7674884A>C	UniProt
TP53	P04637	p.Val216Gly	rs1057520004	missense variant	-	NC_000017.11:g.7674884A>C	-
TP53	P04637	p.Val216Leu	RCV000428855	missense variant	-	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000439081	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000422099	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000466409	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674885C>G	ClinVar
TP53	P04637	p.Val216Leu	RCV000417716	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000437980	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Leu	RCV000426649	missense variant	Glioblastoma	NC_000017.11:g.7674885C>A	ClinVar
TP53	P04637	p.Val216Gly	RCV000427043	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000434681	missense variant	-	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Gly	RCV000433417	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Glu	RCV000440944	missense variant	Neoplasm of brain	NC_000017.11:g.7674884A>T	ClinVar
TP53	P04637	p.Val216Gly	RCV000422282	missense variant	Glioblastoma	NC_000017.11:g.7674884A>C	ClinVar
TP53	P04637	p.Val216Trp	VAR_045811	Missense	-	-	UniProt
TP53	P04637	p.Val216Ala	VAR_045097	Missense	-	-	UniProt
TP53	P04637	p.Val217Met	rs35163653	missense variant	-	NC_000017.11:g.7674882C>T	UniProt,dbSNP
TP53	P04637	p.Val217Met	VAR_047178	missense variant	-	NC_000017.11:g.7674882C>T	UniProt
TP53	P04637	p.Val217Met	rs35163653	missense variant	-	NC_000017.11:g.7674882C>T	ExAC,gnomAD
TP53	P04637	p.Val217Met	RCV000161936	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674882C>T	ClinVar
TP53	P04637	p.Val217Glu	VAR_045102	Missense	-	-	UniProt
TP53	P04637	p.Val217Ile	VAR_045104	Missense	-	-	UniProt
TP53	P04637	p.Val217Leu	VAR_045105	Missense	-	-	UniProt
TP53	P04637	p.Val217Gly	VAR_045103	Missense	-	-	UniProt
TP53	P04637	p.Val217Ala	VAR_045101	Missense	-	-	UniProt
TP53	P04637	p.Val218Met	RCV000228072	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674879C>T	ClinVar
TP53	P04637	p.Val218Ter	RCV000165061	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674865_7674880del	ClinVar
TP53	P04637	p.Val218Gly	RCV000633350	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674878A>C	ClinVar
TP53	P04637	p.Val218Ter	RCV000785273	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674883_7674887dup	ClinVar
TP53	P04637	p.Val218Gly	rs1555525743	missense variant	-	NC_000017.11:g.7674878A>C	UniProt,dbSNP
TP53	P04637	p.Val218Gly	VAR_045108	missense variant	-	NC_000017.11:g.7674878A>C	UniProt
TP53	P04637	p.Val218Gly	rs1555525743	missense variant	-	NC_000017.11:g.7674878A>C	-
TP53	P04637	p.Val218Met	rs878854072	missense variant	-	NC_000017.11:g.7674879C>T	UniProt,dbSNP
TP53	P04637	p.Val218Met	VAR_045110	missense variant	-	NC_000017.11:g.7674879C>T	UniProt
TP53	P04637	p.Val218Met	rs878854072	missense variant	-	NC_000017.11:g.7674879C>T	-
TP53	P04637	p.Val218Ala	VAR_045106	Missense	-	-	UniProt
TP53	P04637	p.Val218Leu	VAR_045109	Missense	-	-	UniProt
TP53	P04637	p.Val218Glu	VAR_045107	Missense	-	-	UniProt
TP53	P04637	p.Pro219Ser	rs879253894	missense variant	-	NC_000017.11:g.7674876G>A	gnomAD
TP53	P04637	p.Pro219Ser	rs879253894	missense variant	-	NC_000017.11:g.7674876G>A	UniProt,dbSNP
TP53	P04637	p.Pro219Ser	VAR_045114	missense variant	-	NC_000017.11:g.7674876G>A	UniProt
TP53	P04637	p.Pro219Ser	RCV000236313	missense variant	-	NC_000017.11:g.7674876G>A	ClinVar
TP53	P04637	p.Pro219Ter	RCV000569731	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674863_7674878del	ClinVar
TP53	P04637	p.Pro219Leu	rs1420675064	missense variant	-	NC_000017.11:g.7674875G>A	UniProt,dbSNP
TP53	P04637	p.Pro219Leu	VAR_045112	missense variant	-	NC_000017.11:g.7674875G>A	UniProt
TP53	P04637	p.Pro219Leu	rs1420675064	missense variant	-	NC_000017.11:g.7674875G>A	gnomAD
TP53	P04637	p.Pro219His	VAR_045111	Missense	-	-	UniProt
TP53	P04637	p.Pro219Cys	VAR_045812	Missense	-	-	UniProt
TP53	P04637	p.Pro219Arg	VAR_045113	Missense	-	-	UniProt
TP53	P04637	p.Pro219Thr	VAR_045115	Missense	-	-	UniProt
TP53	P04637	p.Tyr220Cys	rs121912666	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674872T>C	UniProt,dbSNP
TP53	P04637	p.Tyr220Cys	VAR_005957	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674872T>C	UniProt
TP53	P04637	p.Tyr220Asp	rs530941076	missense variant	-	NC_000017.11:g.7674873A>C	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Tyr220Asp	rs530941076	missense variant	-	NC_000017.11:g.7674873A>C	UniProt,dbSNP
TP53	P04637	p.Tyr220Asp	VAR_045116	missense variant	-	NC_000017.11:g.7674873A>C	UniProt
TP53	P04637	p.Tyr220Asn	rs530941076	missense variant	-	NC_000017.11:g.7674873A>T	UniProt,dbSNP
TP53	P04637	p.Tyr220Asn	VAR_045118	missense variant	-	NC_000017.11:g.7674873A>T	UniProt
TP53	P04637	p.Tyr220Cys	rs121912666	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674872T>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Tyr220Cys	RCV000435063	missense variant	Neoplasm of brain	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000436553	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000440244	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000428791	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000425193	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000423111	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000428097	missense variant	-	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000785544	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000444814	missense variant	Small cell lung cancer	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000419021	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000432093	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000438068	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000570507	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000443812	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000418779	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000444073	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000418575	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000434918	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000419702	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000444717	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000434300	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000434614	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000417417	missense variant	Glioblastoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000423624	missense variant	Neoplasm of the breast	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Ser	RCV000013183	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674872T>G	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000439456	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000423029	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000433936	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000439645	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000425869	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Ser	RCV000472593	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674872T>G	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000442230	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220Cys	RCV000418951	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674872T>C	ClinVar
TP53	P04637	p.Tyr220His	rs530941076	missense variant	-	NC_000017.11:g.7674873A>G	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Tyr220Asp	RCV000444915	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000424584	missense variant	Glioblastoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000438838	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220His	RCV000566866	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674873A>G	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000426793	missense variant	Small cell lung cancer	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000430837	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000425315	missense variant	Glioblastoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000427506	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000428144	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000433449	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000440413	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000439357	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000424311	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000437034	missense variant	Neoplasm of brain	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000436457	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000427847	missense variant	Neoplasm of brain	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000438679	missense variant	-	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000431034	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000423767	missense variant	Small cell lung cancer	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000419523	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000429130	missense variant	Neoplasm of the breast	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000434427	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000417982	missense variant	Neoplasm of the breast	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000421037	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000429300	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000426310	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000434035	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000441127	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Asn	RCV000437403	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674873A>T	ClinVar
TP53	P04637	p.Tyr220Asp	RCV000422783	missense variant	-	NC_000017.11:g.7674873A>C	ClinVar
TP53	P04637	p.Tyr220Ser	rs121912666	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674872T>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Tyr220His	rs530941076	missense variant	-	NC_000017.11:g.7674873A>G	UniProt,dbSNP
TP53	P04637	p.Tyr220His	VAR_005958	missense variant	-	NC_000017.11:g.7674873A>G	UniProt
TP53	P04637	p.Tyr220Ser	rs121912666	missense variant	-	NC_000017.11:g.7674872T>G	UniProt,dbSNP
TP53	P04637	p.Tyr220Ser	VAR_005959	missense variant	-	NC_000017.11:g.7674872T>G	UniProt
TP53	P04637	p.Tyr220Asn	rs530941076	missense variant	-	NC_000017.11:g.7674873A>T	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Tyr220Ter	RCV000785516	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674871A>T	ClinVar
TP53	P04637	p.Tyr220Phe	VAR_045117	Missense	-	-	UniProt
TP53	P04637	p.Glu221Ter	RCV000794857	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674870C>A	ClinVar
TP53	P04637	p.Glu221Lys	RCV000163935	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674870C>T	ClinVar
TP53	P04637	p.Glu221Lys	rs786201592	missense variant	-	NC_000017.11:g.7674870C>T	UniProt,dbSNP
TP53	P04637	p.Glu221Lys	VAR_045122	missense variant	-	NC_000017.11:g.7674870C>T	UniProt
TP53	P04637	p.Glu221Lys	rs786201592	missense variant	-	NC_000017.11:g.7674870C>T	gnomAD
TP53	P04637	p.Glu221Ter	RCV000492096	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674869del	ClinVar
TP53	P04637	p.Glu221Ter	RCV000234225	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674869del	ClinVar
TP53	P04637	p.Glu221Ter	rs786201592	stop gained	-	NC_000017.11:g.7674870C>A	gnomAD
TP53	P04637	p.Glu221Ala	RCV000695405	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674869T>G	ClinVar
TP53	P04637	p.Glu221Lys	RCV000528158	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674870C>T	ClinVar
TP53	P04637	p.Glu221Ter	RCV000785468	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674870C>A	ClinVar
TP53	P04637	p.Glu221Ala	VAR_045119	Missense	-	-	UniProt
TP53	P04637	p.Glu221Gly	VAR_045121	Missense	-	-	UniProt
TP53	P04637	p.Glu221Gln	VAR_045123	Missense	-	-	UniProt
TP53	P04637	p.Glu221Asp	VAR_045120	Missense	-	-	UniProt
TP53	P04637	p.Pro222Ser	RCV000564109	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674867G>A	ClinVar
TP53	P04637	p.Pro222Leu	RCV000213056	missense variant	-	NC_000017.11:g.7674866G>A	ClinVar
TP53	P04637	p.Pro222Leu	RCV000411498	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674866G>A	ClinVar
TP53	P04637	p.Pro222Leu	RCV000161032	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674866G>A	ClinVar
TP53	P04637	p.Pro222Leu	RCV000148907	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674866G>A	ClinVar
TP53	P04637	p.Pro222Leu	rs146340390	missense variant	-	NC_000017.11:g.7674866G>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro222Leu	rs146340390	missense variant	-	NC_000017.11:g.7674866G>A	UniProt,dbSNP
TP53	P04637	p.Pro222Leu	VAR_045125	missense variant	-	NC_000017.11:g.7674866G>A	UniProt
TP53	P04637	p.Pro222Ser	rs1060501203	missense variant	-	NC_000017.11:g.7674867G>A	TOPMed
TP53	P04637	p.Pro222Ter	RCV000785327	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674867del	ClinVar
TP53	P04637	p.Pro222Arg	VAR_045127	Missense	-	-	UniProt
TP53	P04637	p.Pro222Ala	VAR_045124	Missense	-	-	UniProt
TP53	P04637	p.Pro222Thr	VAR_045129	Missense	-	-	UniProt
TP53	P04637	p.Pro222Gln	VAR_045126	Missense	-	-	UniProt
TP53	P04637	p.Pro223Leu	RCV000223388	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674863G>A	ClinVar
TP53	P04637	p.Pro223Leu	RCV000633401	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674863G>A	ClinVar
TP53	P04637	p.Pro223His	rs138983188	missense variant	-	NC_000017.11:g.7674863G>T	UniProt,dbSNP
TP53	P04637	p.Pro223His	VAR_045130	missense variant	-	NC_000017.11:g.7674863G>T	UniProt
TP53	P04637	p.Pro223His	rs138983188	missense variant	-	NC_000017.11:g.7674863G>T	ESP
TP53	P04637	p.Pro223Leu	rs138983188	missense variant	-	NC_000017.11:g.7674863G>A	ESP
TP53	P04637	p.Pro223Leu	rs138983188	missense variant	-	NC_000017.11:g.7674863G>A	UniProt,dbSNP
TP53	P04637	p.Pro223Leu	VAR_045131	missense variant	-	NC_000017.11:g.7674863G>A	UniProt
TP53	P04637	p.Pro223Thr	VAR_045134	Missense	-	-	UniProt
TP53	P04637	p.Pro223Arg	VAR_045132	Missense	-	-	UniProt
TP53	P04637	p.Pro223Ser	VAR_045133	Missense	-	-	UniProt
TP53	P04637	p.Pro223Ala	VAR_047179	Missense	-	-	UniProt
TP53	P04637	p.Glu224Asp	rs267605076	missense variant	-	NC_000017.11:g.7674859C>A	gnomAD
TP53	P04637	p.Glu224Ala	RCV000492340	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674860T>G	ClinVar
TP53	P04637	p.Glu224Lys	RCV000573879	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674861C>T	ClinVar
TP53	P04637	p.Glu224Lys	rs1555525707	missense variant	-	NC_000017.11:g.7674861C>T	UniProt,dbSNP
TP53	P04637	p.Glu224Lys	VAR_045137	missense variant	-	NC_000017.11:g.7674861C>T	UniProt
TP53	P04637	p.Glu224Lys	rs1555525707	missense variant	-	NC_000017.11:g.7674861C>T	-
TP53	P04637	p.Glu224Ala	rs1131691028	missense variant	-	NC_000017.11:g.7674860T>G	-
TP53	P04637	p.Glu224Gly	VAR_045136	Missense	-	-	UniProt
TP53	P04637	p.Glu224Val	VAR_045138	Missense	-	-	UniProt
TP53	P04637	p.Val225Ile	rs746504075	missense variant	-	NC_000017.11:g.7674290C>T	ExAC,gnomAD
TP53	P04637	p.Val225Ile	RCV000571914	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674290C>T	ClinVar
TP53	P04637	p.Val225Leu	rs746504075	missense variant	-	NC_000017.11:g.7674290C>G	ExAC,gnomAD
TP53	P04637	p.Val225Leu	rs746504075	missense variant	-	NC_000017.11:g.7674290C>G	UniProt,dbSNP
TP53	P04637	p.Val225Leu	VAR_045144	missense variant	-	NC_000017.11:g.7674290C>G	UniProt
TP53	P04637	p.Val225Asp	VAR_045140	Missense	-	-	UniProt
TP53	P04637	p.Val225Ile	VAR_045143	Missense	-	-	UniProt
TP53	P04637	p.Val225Ala	VAR_045139	Missense	-	-	UniProt
TP53	P04637	p.Val225Phe	VAR_045141	Missense	-	-	UniProt
TP53	P04637	p.Val225Gly	VAR_045142	Missense	-	-	UniProt
TP53	P04637	p.Gly226Val	RCV000542075	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674286C>A	ClinVar
TP53	P04637	p.Gly226Val	rs970212462	missense variant	-	NC_000017.11:g.7674286C>A	TOPMed
TP53	P04637	p.Gly226Val	RCV000572327	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674286C>A	ClinVar
TP53	P04637	p.Gly226Ter	RCV000785269	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674289del	ClinVar
TP53	P04637	p.Gly226Ser	VAR_045146	Missense	-	-	UniProt
TP53	P04637	p.Gly226Asp	VAR_047180	Missense	-	-	UniProt
TP53	P04637	p.Gly226Asn	VAR_045844	Missense	-	-	UniProt
TP53	P04637	p.Gly226Ala	VAR_045145	Missense	-	-	UniProt
TP53	P04637	p.Ser227Ter	RCV000785280	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674283del	ClinVar
TP53	P04637	p.Ser227Thr	VAR_045151	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Ser227Phe	VAR_045149	Missense	-	-	UniProt
TP53	P04637	p.Ser227Pro	VAR_045150	Missense	-	-	UniProt
TP53	P04637	p.Ser227Cys	VAR_045148	Missense	-	-	UniProt
TP53	P04637	p.Asp228Ter	RCV000785306	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674282dup	ClinVar
TP53	P04637	p.Asp228Glu	VAR_005960	Missense	-	-	UniProt
TP53	P04637	p.Asp228Gly	VAR_045153	Missense	-	-	UniProt
TP53	P04637	p.Asp228Pro	VAR_045845	Missense	-	-	UniProt
TP53	P04637	p.Asp228Ala	VAR_045152	Missense	-	-	UniProt
TP53	P04637	p.Asp228Tyr	VAR_045157	Missense	-	-	UniProt
TP53	P04637	p.Asp228His	VAR_045154	Missense	-	-	UniProt
TP53	P04637	p.Asp228Asn	VAR_045155	Missense	-	-	UniProt
TP53	P04637	p.Asp228Val	VAR_045156	Missense	-	-	UniProt
TP53	P04637	p.Cys229Arg	RCV000633388	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674278A>G	ClinVar
TP53	P04637	p.Cys229Tyr	RCV000775944	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674277C>T	ClinVar
TP53	P04637	p.Cys229Tyr	rs1064793603	missense variant	-	NC_000017.11:g.7674277C>T	-
TP53	P04637	p.Cys229Arg	rs1064794312	missense variant	-	NC_000017.11:g.7674278A>G	UniProt,dbSNP
TP53	P04637	p.Cys229Arg	VAR_045159	missense variant	-	NC_000017.11:g.7674278A>G	UniProt
TP53	P04637	p.Cys229Arg	rs1064794312	missense variant	-	NC_000017.11:g.7674278A>G	gnomAD
TP53	P04637	p.Cys229Ter	RCV000161057	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674273_7674280del	ClinVar
TP53	P04637	p.Cys229Tyr	RCV000482575	missense variant	-	NC_000017.11:g.7674277C>T	ClinVar
TP53	P04637	p.Cys229Arg	RCV000482930	missense variant	-	NC_000017.11:g.7674278A>G	ClinVar
TP53	P04637	p.Cys229Arg	RCV000492777	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674278A>G	ClinVar
TP53	P04637	p.Cys229Gly	VAR_045158	Missense	-	-	UniProt
TP53	P04637	p.Cys229Ser	VAR_045160	Missense	-	-	UniProt
TP53	P04637	p.Cys229Asn	VAR_045846	Missense	-	-	UniProt
TP53	P04637	p.Thr230Asn	VAR_045163	Missense	-	-	UniProt
TP53	P04637	p.Thr230Ala	VAR_045162	Missense	-	-	UniProt
TP53	P04637	p.Thr230Pro	VAR_045164	Missense	-	-	UniProt
TP53	P04637	p.Thr230Ile	VAR_005961	Missense	-	-	UniProt
TP53	P04637	p.Thr230Ser	VAR_045165	Missense	-	-	UniProt
TP53	P04637	p.Thr231Ile	rs1555525564	missense variant	-	NC_000017.11:g.7674271G>A	-
TP53	P04637	p.Thr231Ile	rs1555525564	missense variant	-	NC_000017.11:g.7674271G>A	UniProt,dbSNP
TP53	P04637	p.Thr231Ile	VAR_045167	missense variant	-	NC_000017.11:g.7674271G>A	UniProt
TP53	P04637	p.Thr231Ile	RCV000552433	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674271G>A	ClinVar
TP53	P04637	p.Thr231Ser	VAR_045169	Missense	-	-	UniProt
TP53	P04637	p.Thr231Ala	VAR_045166	Missense	-	-	UniProt
TP53	P04637	p.Thr231Asn	VAR_045168	Missense	-	-	UniProt
TP53	P04637	p.Ile232Ser	RCV000785478	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674268A>C	ClinVar
TP53	P04637	p.Ile232Thr	RCV000129637	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674268A>G	ClinVar
TP53	P04637	p.Ile232Leu	RCV000567074	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674269T>G	ClinVar
TP53	P04637	p.Ile232Thr	rs587781589	missense variant	-	NC_000017.11:g.7674268A>G	UniProt,dbSNP
TP53	P04637	p.Ile232Thr	VAR_005962	missense variant	-	NC_000017.11:g.7674268A>G	UniProt
TP53	P04637	p.Ile232Leu	rs1555525562	missense variant	-	NC_000017.11:g.7674269T>G	UniProt,dbSNP
TP53	P04637	p.Ile232Leu	VAR_045171	missense variant	-	NC_000017.11:g.7674269T>G	UniProt
TP53	P04637	p.Ile232Leu	rs1555525562	missense variant	-	NC_000017.11:g.7674269T>G	-
TP53	P04637	p.Ile232Leu	RCV000759379	missense variant	-	NC_000017.11:g.7674269T>G	ClinVar
TP53	P04637	p.Ile232Val	VAR_045174	Missense	-	-	UniProt
TP53	P04637	p.Ile232Asn	VAR_045172	Missense	-	-	UniProt
TP53	P04637	p.Ile232Ser	VAR_045173	Missense	-	-	UniProt
TP53	P04637	p.Ile232Phe	VAR_045170	Missense	-	-	UniProt
TP53	P04637	p.His233Arg	rs879254233	missense variant	-	NC_000017.11:g.7674265T>C	UniProt,dbSNP
TP53	P04637	p.His233Arg	VAR_047181	missense variant	-	NC_000017.11:g.7674265T>C	UniProt
TP53	P04637	p.His233Arg	rs879254233	missense variant	-	NC_000017.11:g.7674265T>C	-
TP53	P04637	p.His233Arg	RCV000235730	missense variant	-	NC_000017.11:g.7674265T>C	ClinVar
TP53	P04637	p.His233Arg	RCV000569303	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674265T>C	ClinVar
TP53	P04637	p.His233Ter	RCV000696660	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674249_7674261del	ClinVar
TP53	P04637	p.His233Leu	VAR_045176	Missense	-	-	UniProt
TP53	P04637	p.His233Pro	VAR_045177	Missense	-	-	UniProt
TP53	P04637	p.His233Gln	VAR_045178	Missense	-	-	UniProt
TP53	P04637	p.His233Asp	VAR_045175	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.His233Tyr	VAR_045179	Missense	-	-	UniProt
TP53	P04637	p.Tyr234Asp	RCV000433956	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000425587	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000435222	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000434769	missense variant	Glioblastoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000436114	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Cys	rs587780073	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674262T>C	UniProt,dbSNP
TP53	P04637	p.Tyr234Cys	VAR_005963	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674262T>C	UniProt
TP53	P04637	p.Tyr234Cys	rs587780073	missense variant	-	NC_000017.11:g.7674262T>C	ExAC,gnomAD
TP53	P04637	p.Tyr234Ser	RCV000443862	missense variant	Small cell lung cancer	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000421263	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000427293	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000424345	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000440475	missense variant	Neoplasm of the breast	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000436336	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000439167	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000417830	missense variant	Neoplasm of the breast	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000444893	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000423653	missense variant	-	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000426109	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000441597	missense variant	-	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000418073	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000445176	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000444101	missense variant	Small cell lung cancer	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000431511	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000444596	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000430039	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000440245	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Cys	RCV000115732	missense variant	-	NC_000017.11:g.7674262T>C	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000423467	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000444569	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000439556	missense variant	-	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000433051	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000421924	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000430207	missense variant	Glioblastoma	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	RCV000437540	missense variant	Neoplasm of the breast	NC_000017.11:g.7674262T>G	ClinVar
TP53	P04637	p.Tyr234Ser	rs587780073	missense variant	-	NC_000017.11:g.7674262T>G	ExAC,gnomAD
TP53	P04637	p.Tyr234Ser	rs587780073	missense variant	-	NC_000017.11:g.7674262T>G	UniProt,dbSNP
TP53	P04637	p.Tyr234Ser	VAR_045183	missense variant	-	NC_000017.11:g.7674262T>G	UniProt
TP53	P04637	p.Tyr234Asn	RCV000433276	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000430896	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000492197	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234His	RCV000492782	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674263A>G	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000418444	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000432845	missense variant	Small cell lung cancer	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000428072	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000426723	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000433328	missense variant	Glioblastoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000445265	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000423238	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asp	RCV000424462	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674263A>C	ClinVar
TP53	P04637	p.Tyr234Asn	RCV000426512	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674263A>T	ClinVar
TP53	P04637	p.Tyr234Gln	VAR_045848	Missense	-	-	UniProt
TP53	P04637	p.Tyr234Phe	VAR_045181	Missense	-	-	UniProt
TP53	P04637	p.Tyr234Lys	VAR_045847	Missense	-	-	UniProt
TP53	P04637	p.Asn235Tyr	RCV000168131	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674260T>A	ClinVar
TP53	P04637	p.Asn235Ile	rs144340710	missense variant	-	NC_000017.11:g.7674259T>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Asn235Ser	rs144340710	missense variant	-	NC_000017.11:g.7674259T>C	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Asn235Ser	RCV000115733	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674259T>C	ClinVar
TP53	P04637	p.Asn235Ile	rs144340710	missense variant	-	NC_000017.11:g.7674259T>A	UniProt,dbSNP
TP53	P04637	p.Asn235Ile	VAR_045185	missense variant	-	NC_000017.11:g.7674259T>A	UniProt
TP53	P04637	p.Asn235Tyr	rs786204145	missense variant	-	NC_000017.11:g.7674260T>A	UniProt,dbSNP
TP53	P04637	p.Asn235Tyr	VAR_045188	missense variant	-	NC_000017.11:g.7674260T>A	UniProt
TP53	P04637	p.Asn235Tyr	rs786204145	missense variant	-	NC_000017.11:g.7674260T>A	-
TP53	P04637	p.Asn235Ser	rs144340710	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674259T>C	UniProt,dbSNP
TP53	P04637	p.Asn235Ser	VAR_045186	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674259T>C	UniProt
TP53	P04637	p.Asn235His	VAR_045184	Missense	-	-	UniProt
TP53	P04637	p.Asn235Thr	VAR_045187	Missense	-	-	UniProt
TP53	P04637	p.Asn235Met	VAR_045849	Missense	-	-	UniProt
TP53	P04637	p.Asn235Asp	VAR_047182	Missense	-	-	UniProt
TP53	P04637	p.Tyr236His	rs587782289	missense variant	-	NC_000017.11:g.7674257A>G	-
TP53	P04637	p.Tyr236His	rs587782289	missense variant	-	NC_000017.11:g.7674257A>G	UniProt,dbSNP
TP53	P04637	p.Tyr236His	VAR_045192	missense variant	-	NC_000017.11:g.7674257A>G	UniProt
TP53	P04637	p.Tyr236Asp	rs587782289	missense variant	-	NC_000017.11:g.7674257A>C	UniProt,dbSNP
TP53	P04637	p.Tyr236Asp	VAR_045190	missense variant	-	NC_000017.11:g.7674257A>C	UniProt
TP53	P04637	p.Tyr236Asn	RCV000439518	missense variant	Neoplasm of the breast	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000443891	missense variant	Neoplasm of brain	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000431852	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000444464	missense variant	Neoplasm of the breast	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000419208	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000428749	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000429935	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000437595	missense variant	-	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000420300	missense variant	Neoplasm of brain	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000438183	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000421570	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236His	RCV000198628	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674257A>G	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000438979	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000438025	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000418648	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000429365	missense variant	Neoplasm of brain	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000430428	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000421176	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000426248	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000427088	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000785279	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000430980	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000423298	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000425130	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000428270	missense variant	-	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000419715	missense variant	Neoplasm of the breast	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000444573	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000436923	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000421075	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000435853	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asp	RCV000440030	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674257A>C	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000432981	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000444665	missense variant	-	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	RCV000422301	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674257A>T	ClinVar
TP53	P04637	p.Tyr236Asn	rs587782289	missense variant	-	NC_000017.11:g.7674257A>T	UniProt,dbSNP
TP53	P04637	p.Tyr236Asn	VAR_045193	missense variant	-	NC_000017.11:g.7674257A>T	UniProt
TP53	P04637	p.Tyr236Ser	RCV000161069	missense variant	-	NC_000017.11:g.7674256T>G	ClinVar
TP53	P04637	p.Tyr236Cys	RCV000440629	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674256T>C	ClinVar
TP53	P04637	p.Tyr236Phe	VAR_045191	Missense	-	-	UniProt
TP53	P04637	p.Met237Ile	rs587782664	missense variant	-	NC_000017.11:g.7674252C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Met237Arg	RCV000482236	missense variant	-	NC_000017.11:g.7674253A>C	ClinVar
TP53	P04637	p.Met237Lys	RCV000443369	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Val	RCV000200500	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674254T>C	ClinVar
TP53	P04637	p.Met237Lys	RCV000442966	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Ile	RCV000464261	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674252C>T	ClinVar
TP53	P04637	p.Met237Ile	RCV000581940	missense variant	-	NC_000017.11:g.7674252C>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000437739	missense variant	-	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000422293	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Thr	RCV000568529	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674253A>G	ClinVar
TP53	P04637	p.Met237Thr	RCV000699909	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674253A>G	ClinVar
TP53	P04637	p.Met237Val	RCV000161033	missense variant	-	NC_000017.11:g.7674254T>C	ClinVar
TP53	P04637	p.Met237Lys	RCV000435309	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000424589	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000429783	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000427086	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000436968	missense variant	Neoplasm of the breast	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000432913	missense variant	Neoplasm of brain	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Ile	RCV000785508	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674252C>A	ClinVar
TP53	P04637	p.Met237Arg	rs765848205	missense variant	-	NC_000017.11:g.7674253A>C	UniProt,dbSNP
TP53	P04637	p.Met237Arg	VAR_045197	missense variant	-	NC_000017.11:g.7674253A>C	UniProt
TP53	P04637	p.Met237Ile	rs587782664	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674252C>T	UniProt,dbSNP
TP53	P04637	p.Met237Ile	VAR_005965	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674252C>T	UniProt
TP53	P04637	p.Met237Ile	rs587782664	missense variant	-	NC_000017.11:g.7674252C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Met237Thr	rs765848205	missense variant	-	NC_000017.11:g.7674253A>G	ExAC,gnomAD
TP53	P04637	p.Met237Ile	rs587782664	missense variant	-	NC_000017.11:g.7674252C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Met237Arg	rs765848205	missense variant	-	NC_000017.11:g.7674253A>C	ExAC,gnomAD
TP53	P04637	p.Met237Lys	rs765848205	missense variant	-	NC_000017.11:g.7674253A>T	UniProt,dbSNP
TP53	P04637	p.Met237Lys	VAR_045195	missense variant	-	NC_000017.11:g.7674253A>T	UniProt
TP53	P04637	p.Met237Lys	rs765848205	missense variant	-	NC_000017.11:g.7674253A>T	ExAC,gnomAD
TP53	P04637	p.Met237Lys	RCV000420529	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Lys	RCV000442354	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674253A>T	ClinVar
TP53	P04637	p.Met237Ter	RCV000574740	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674250_7674251CA[1]	ClinVar
TP53	P04637	p.Met237Ter	RCV000572072	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674249del	ClinVar
TP53	P04637	p.Met237Leu	VAR_045196	Missense	-	-	UniProt
TP53	P04637	p.Met237Thr	VAR_045198	Missense	-	-	UniProt
TP53	P04637	p.Cys238Ser	rs730882005	missense variant	-	NC_000017.11:g.7674250C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys238Gly	RCV000427246	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000441879	missense variant	Neoplasm of the breast	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000439946	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000435170	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000421679	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000422044	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000441834	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000444792	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000426193	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000442237	missense variant	-	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000433046	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000433478	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000785550	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000422283	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000417486	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000428630	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000437321	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000431946	missense variant	Neoplasm of brain	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000437476	missense variant	Neoplasm of the breast	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000420677	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000423396	missense variant	-	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000428804	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Arg	RCV000438447	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000424052	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000424531	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000429749	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000442527	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000434344	missense variant	Neoplasm of the breast	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000418923	missense variant	Neoplasm of brain	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000425867	missense variant	-	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000435732	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000424302	missense variant	Glioblastoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000439773	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000432222	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000423226	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000434584	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Tyr	RCV000161034	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674250C>T	ClinVar
TP53	P04637	p.Cys238Ser	RCV000425465	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	rs1057519981	missense variant	-	NC_000017.11:g.7674251A>T	-
TP53	P04637	p.Cys238Tyr	rs730882005	missense variant	-	NC_000017.11:g.7674250C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys238Arg	rs1057519981	missense variant	-	NC_000017.11:g.7674251A>G	UniProt,dbSNP
TP53	P04637	p.Cys238Arg	VAR_045201	missense variant	-	NC_000017.11:g.7674251A>G	UniProt
TP53	P04637	p.Cys238Arg	rs1057519981	missense variant	-	NC_000017.11:g.7674251A>G	-
TP53	P04637	p.Cys238Phe	rs730882005	missense variant	-	NC_000017.11:g.7674250C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys238Gly	rs1057519981	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674251A>C	UniProt,dbSNP
TP53	P04637	p.Cys238Gly	VAR_045200	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674251A>C	UniProt
TP53	P04637	p.Cys238Phe	RCV000473420	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674250C>A	ClinVar
TP53	P04637	p.Cys238Ser	RCV000440842	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000442617	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000441115	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Ser	RCV000419485	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674250C>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000430655	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000419348	missense variant	Glioblastoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000430482	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000421933	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000420409	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000437199	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000437018	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Arg	RCV000428210	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674251A>G	ClinVar
TP53	P04637	p.Cys238Gly	RCV000438876	missense variant	Glioblastoma	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Gly	RCV000443356	missense variant	Neoplasm of brain	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Ser	RCV000565464	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674251A>T	ClinVar
TP53	P04637	p.Cys238Gly	RCV000430919	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674251A>C	ClinVar
TP53	P04637	p.Cys238Trp	RCV000203823	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674249A>C	ClinVar
TP53	P04637	p.Cys238Trp	rs193920789	missense variant	-	NC_000017.11:g.7674249A>C	UniProt,dbSNP
TP53	P04637	p.Cys238Trp	VAR_045203	missense variant	-	NC_000017.11:g.7674249A>C	UniProt
TP53	P04637	p.Cys238His	VAR_045850	Missense	-	-	UniProt
TP53	P04637	p.Asn239Ser	rs1057519999	missense variant	-	NC_000017.11:g.7674247T>C	UniProt,dbSNP
TP53	P04637	p.Asn239Ser	VAR_045208	missense variant	-	NC_000017.11:g.7674247T>C	UniProt
TP53	P04637	p.Asn239Ser	RCV000438332	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ter	RCV000460136	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674248del	ClinVar
TP53	P04637	p.Asn239Ser	RCV000428926	missense variant	Neoplasm of the breast	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000438482	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Lys	RCV000529909	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674246G>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000437044	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000436108	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000426368	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000418854	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000427640	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Lys	RCV000431317	missense variant	-	NC_000017.11:g.7674246G>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000442626	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000429581	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Ser	RCV000420011	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Asp	RCV000560536	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674248T>C	ClinVar
TP53	P04637	p.Asn239Asp	rs876660807	missense variant	-	NC_000017.11:g.7674248T>C	UniProt,dbSNP
TP53	P04637	p.Asn239Asp	VAR_045204	missense variant	-	NC_000017.11:g.7674248T>C	UniProt
TP53	P04637	p.Asn239Thr	rs1057519999	missense variant	-	NC_000017.11:g.7674247T>G	UniProt,dbSNP
TP53	P04637	p.Asn239Thr	VAR_045209	missense variant	-	NC_000017.11:g.7674247T>G	UniProt
TP53	P04637	p.Asn239Ter	RCV000545435	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674240_7674249del	ClinVar
TP53	P04637	p.Asn239Ter	RCV000785512	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674249dup	ClinVar
TP53	P04637	p.Asn239Ser	RCV000567507	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674247T>C	ClinVar
TP53	P04637	p.Asn239Thr	RCV000633336	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674247T>G	ClinVar
TP53	P04637	p.Asn239Tyr	VAR_045210	Missense	-	-	UniProt
TP53	P04637	p.Asn239His	VAR_045205	Missense	-	-	UniProt
TP53	P04637	p.Asn239Ile	VAR_045206	Missense	-	-	UniProt
TP53	P04637	p.Ser240Arg	rs764342812	missense variant	-	NC_000017.11:g.7674243A>C	ExAC,gnomAD
TP53	P04637	p.Ser240Gly	RCV000709404	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674245T>C	ClinVar
TP53	P04637	p.Ser240Arg	RCV000544531	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674243A>C	ClinVar
TP53	P04637	p.Ser240Ter	RCV000493285	frameshift	-	NC_000017.11:g.7674246_7674247insA	ClinVar
TP53	P04637	p.Ser240Ile	VAR_005968	Missense	-	-	UniProt
TP53	P04637	p.Ser240Pro	VAR_045214	Missense	-	-	UniProt
TP53	P04637	p.Ser240Thr	VAR_045216	Missense	-	-	UniProt
TP53	P04637	p.Ser240Arg	VAR_045215	Missense	-	-	UniProt
TP53	P04637	p.Ser240Gly	VAR_045212	Missense	-	-	UniProt
TP53	P04637	p.Ser240Cys	VAR_045211	Missense	-	-	UniProt
TP53	P04637	p.Ser240Asn	VAR_045213	Missense	-	-	UniProt
TP53	P04637	p.Ser241Tyr	RCV000421131	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000785454	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000439098	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000442642	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000431755	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000441261	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000431373	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000236210	missense variant	-	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000439590	missense variant	Neoplasm of the breast	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000425344	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Pro	RCV000433946	missense variant	Glioblastoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000785263	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000429686	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000434790	missense variant	Glioblastoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000442139	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000423557	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000436563	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000434877	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000423390	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000437871	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000441702	missense variant	-	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000435947	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000418899	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000430183	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000441931	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000439326	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000418366	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000433139	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000427437	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000417799	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000429092	missense variant	-	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000443312	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000437125	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000441961	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000443160	missense variant	-	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000440449	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000436296	missense variant	Neoplasm of the breast	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000426195	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000425780	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000492778	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000428236	missense variant	-	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000430014	missense variant	Neoplasm of brain	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000420364	missense variant	Neoplasm of brain	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000154419	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000437089	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Phe	RCV000013154	missense variant	Osteosarcoma	NC_000017.11:g.7674241G>A	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000426095	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	rs28934573	missense variant	-	NC_000017.11:g.7674241G>C	ExAC,gnomAD
TP53	P04637	p.Ser241Phe	rs28934573	missense variant	-	NC_000017.11:g.7674241G>A	ExAC,gnomAD
TP53	P04637	p.Ser241Phe	rs28934573	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674241G>A	UniProt,dbSNP
TP53	P04637	p.Ser241Phe	VAR_005969	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674241G>A	UniProt
TP53	P04637	p.Ser241Ala	rs1057520002	missense variant	-	NC_000017.11:g.7674242A>C	gnomAD
TP53	P04637	p.Ser241Ala	rs1057520002	missense variant	-	NC_000017.11:g.7674242A>C	UniProt,dbSNP
TP53	P04637	p.Ser241Ala	VAR_033036	missense variant	-	NC_000017.11:g.7674242A>C	UniProt
TP53	P04637	p.Ser241Tyr	rs28934573	missense variant	-	NC_000017.11:g.7674241G>T	UniProt,dbSNP
TP53	P04637	p.Ser241Tyr	VAR_045219	missense variant	-	NC_000017.11:g.7674241G>T	UniProt
TP53	P04637	p.Ser241Cys	rs28934573	missense variant	-	NC_000017.11:g.7674241G>C	UniProt,dbSNP
TP53	P04637	p.Ser241Cys	VAR_045217	missense variant	-	NC_000017.11:g.7674241G>C	UniProt
TP53	P04637	p.Ser241Tyr	rs28934573	missense variant	-	NC_000017.11:g.7674241G>T	ExAC,gnomAD
TP53	P04637	p.Ser241Phe	RCV000013153	missense variant	Hepatoblastoma	NC_000017.11:g.7674241G>A	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000432092	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000429339	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000419713	missense variant	Glioblastoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000417965	missense variant	Glioblastoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000438178	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000437363	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000422573	missense variant	Carcinoma of gallbladder	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000426866	missense variant	-	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000420564	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000422775	missense variant	Neoplasm of brain	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000425213	missense variant	Neoplasm of brain	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Ala	RCV000424609	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000432077	missense variant	Neoplasm of the breast	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000425684	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Ala	RCV000419457	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674242A>C	ClinVar
TP53	P04637	p.Ser241Pro	RCV000442103	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000422882	missense variant	-	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000435497	missense variant	Neoplasm of the breast	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000428035	missense variant	-	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Pro	RCV000421946	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674242A>G	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000438864	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000441902	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000426900	missense variant	Papillary renal cell carcinoma, sporadic	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000430604	missense variant	-	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000440216	missense variant	-	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000420813	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000442616	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000419417	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000430987	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000432564	missense variant	-	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Cys	RCV000785321	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000424972	missense variant	-	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Cys	RCV000438488	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7674241G>C	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000418625	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000441922	missense variant	-	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Tyr	RCV000423572	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674241G>T	ClinVar
TP53	P04637	p.Ser241Pro	rs1057520002	missense variant	-	NC_000017.11:g.7674242A>G	UniProt,dbSNP
TP53	P04637	p.Ser241Pro	VAR_045218	missense variant	-	NC_000017.11:g.7674242A>G	UniProt
TP53	P04637	p.Ser241Pro	rs1057520002	missense variant	-	NC_000017.11:g.7674242A>G	gnomAD
TP53	P04637	p.Ser241Thr	VAR_047183	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Cys242Phe	rs121912655	missense variant	-	NC_000017.11:g.7674238C>A	UniProt,dbSNP
TP53	P04637	p.Cys242Phe	VAR_005970	missense variant	-	NC_000017.11:g.7674238C>A	UniProt
TP53	P04637	p.Cys242Trp	rs375874539	missense variant	-	NC_000017.11:g.7674237G>C	ESP,ExAC,TOPMed
TP53	P04637	p.Cys242Gly	rs1057519982	missense variant	-	NC_000017.11:g.7674239A>C	UniProt,dbSNP
TP53	P04637	p.Cys242Gly	VAR_045220	missense variant	-	NC_000017.11:g.7674239A>C	UniProt
TP53	P04637	p.Cys242Phe	rs121912655	missense variant	-	NC_000017.11:g.7674238C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys242Ser	rs121912655	missense variant	-	NC_000017.11:g.7674238C>G	UniProt,dbSNP
TP53	P04637	p.Cys242Ser	VAR_045222	missense variant	-	NC_000017.11:g.7674238C>G	UniProt
TP53	P04637	p.Cys242Arg	RCV000523905	missense variant	-	NC_000017.11:g.7674239A>G	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000785282	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000419041	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000440992	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Phe	RCV000688366	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674238C>A	ClinVar
TP53	P04637	p.Cys242Ser	RCV000662594	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674239A>T	ClinVar
TP53	P04637	p.Cys242Gly	RCV000461418	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674239A>C	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000424935	missense variant	-	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000436867	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000430302	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000425602	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000426292	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000442015	missense variant	Glioblastoma	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000432119	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000436295	missense variant	Neoplasm of the breast	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Tyr	RCV000419614	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674238C>T	ClinVar
TP53	P04637	p.Cys242Trp	RCV000438862	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000432344	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000441640	missense variant	-	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000421654	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000431682	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Ser	rs121912655	missense variant	-	NC_000017.11:g.7674238C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys242Tyr	rs121912655	missense variant	-	NC_000017.11:g.7674238C>T	UniProt,dbSNP
TP53	P04637	p.Cys242Tyr	VAR_045224	missense variant	-	NC_000017.11:g.7674238C>T	UniProt
TP53	P04637	p.Cys242Tyr	rs121912655	missense variant	-	NC_000017.11:g.7674238C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Cys242Trp	RCV000432990	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000442778	missense variant	Neoplasm of the breast	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000420917	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000420256	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000422298	missense variant	Glioblastoma	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Trp	RCV000430938	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674237G>C	ClinVar
TP53	P04637	p.Cys242Arg	VAR_045221	Missense	-	-	UniProt
TP53	P04637	p.Met243Val	RCV000464185	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674236T>C	ClinVar
TP53	P04637	p.Met243Leu	RCV000166281	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674236T>G	ClinVar
TP53	P04637	p.Met243Val	RCV000562254	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674236T>C	ClinVar
TP53	P04637	p.Met243Thr	RCV000222280	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674235A>G	ClinVar
TP53	P04637	p.Met243Leu	rs786203117	missense variant	-	NC_000017.11:g.7674236T>G	TOPMed
TP53	P04637	p.Met243Val	rs786203117	missense variant	-	NC_000017.11:g.7674236T>C	TOPMed
TP53	P04637	p.Met243Val	rs786203117	missense variant	-	NC_000017.11:g.7674236T>C	UniProt,dbSNP
TP53	P04637	p.Met243Val	VAR_045230	missense variant	-	NC_000017.11:g.7674236T>C	UniProt
TP53	P04637	p.Met243Leu	rs786203117	missense variant	-	NC_000017.11:g.7674236T>A	UniProt,dbSNP
TP53	P04637	p.Met243Leu	VAR_045227	missense variant	-	NC_000017.11:g.7674236T>A	UniProt
TP53	P04637	p.Met243Leu	rs786203117	missense variant	-	NC_000017.11:g.7674236T>A	TOPMed
TP53	P04637	p.Met243Ile	VAR_045225	Missense	-	-	UniProt
TP53	P04637	p.Met243Lys	VAR_045226	Missense	-	-	UniProt
TP53	P04637	p.Met243_Gly244delinsIleCys	VAR_047184	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met243_Gly244delinsIleSer	VAR_047185	deletion_insertion	-	-	UniProt
TP53	P04637	p.Met243Arg	VAR_045228	Missense	-	-	UniProt
TP53	P04637	p.Gly244Cys	RCV000538079	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674233C>A	ClinVar
TP53	P04637	p.Gly244Ser	RCV000633372	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674233C>T	ClinVar
TP53	P04637	p.Gly244Arg	RCV000437599	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000430145	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000417831	missense variant	Neoplasm of brain	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000433805	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000433321	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Ala	RCV000548437	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674232C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000785338	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Arg	RCV000438254	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000431028	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000435229	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000424338	missense variant	Glioblastoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Arg	RCV000420351	missense variant	Neoplasm of brain	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000419267	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000443153	missense variant	Small cell lung cancer	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000418001	missense variant	Glioblastoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000432729	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000423073	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000428522	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000443964	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000434977	missense variant	Small cell lung cancer	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Arg	RCV000424520	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000420188	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000439173	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000440310	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Val	RCV000430897	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Ser	rs1057519989	missense variant	-	NC_000017.11:g.7674233C>T	UniProt,dbSNP
TP53	P04637	p.Gly244Ser	VAR_045235	missense variant	-	NC_000017.11:g.7674233C>T	UniProt
TP53	P04637	p.Gly244Cys	rs1057519989	missense variant	-	NC_000017.11:g.7674233C>A	UniProt,dbSNP
TP53	P04637	p.Gly244Cys	VAR_045231	missense variant	-	NC_000017.11:g.7674233C>A	UniProt
TP53	P04637	p.Gly244Cys	rs1057519989	missense variant	-	NC_000017.11:g.7674233C>A	-
TP53	P04637	p.Gly244Arg	rs1057519989	missense variant	-	NC_000017.11:g.7674233C>G	UniProt,dbSNP
TP53	P04637	p.Gly244Arg	VAR_045234	missense variant	-	NC_000017.11:g.7674233C>G	UniProt
TP53	P04637	p.Gly244Asp	RCV000477083	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674232C>T	ClinVar
TP53	P04637	p.Gly244Arg	RCV000425485	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Arg	RCV000425133	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674233C>G	ClinVar
TP53	P04637	p.Gly244Val	RCV000441607	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674232C>A	ClinVar
TP53	P04637	p.Gly244Glu	VAR_045233	Missense	-	-	UniProt
TP53	P04637	p.Gly245Ser	rs28934575	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674230C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Arg	rs28934575	missense variant	-	NC_000017.11:g.7674230C>G	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Arg	rs28934575	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674230C>G	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Asp	rs121912656	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>T	UniProt,dbSNP
TP53	P04637	p.Gly245Asp	VAR_005973	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>T	UniProt
TP53	P04637	p.Gly245Cys	rs28934575	missense variant	-	NC_000017.11:g.7674230C>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Ser	rs28934575	missense variant	-	NC_000017.11:g.7674230C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Cys	rs28934575	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674230C>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly245Cys	RCV000423577	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000425581	missense variant	Neoplasm	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000432898	missense variant	-	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000443435	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Cys	RCV000419737	missense variant	Neoplasm of the breast	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000436979	missense variant	Neoplasm of the breast	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000420452	missense variant	Glioblastoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ala	RCV000420237	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000430431	missense variant	-	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000431752	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000418643	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000434145	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000435854	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000438982	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000422531	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000443789	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000426521	missense variant	Glioblastoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000436773	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000438479	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000432804	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000428537	missense variant	-	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000434833	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Asp	RCV000206683	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>T	ClinVar
TP53	P04637	p.Gly245Asp	RCV000013149	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674229C>T	ClinVar
TP53	P04637	p.Gly245Asp	RCV000164465	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674229C>T	ClinVar
TP53	P04637	p.Gly245Val	RCV000443716	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000444483	missense variant	-	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000437884	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000439974	missense variant	Neoplasm of the breast	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000421477	missense variant	Neoplasm of brain	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000255018	missense variant	-	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000425368	missense variant	Neoplasm of the breast	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000558455	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000426568	missense variant	Glioblastoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000421020	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000437258	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000443845	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000427619	missense variant	-	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000428216	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000429303	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Val	RCV000421739	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ala	RCV000442824	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Ala	RCV000433958	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674229C>G	ClinVar
TP53	P04637	p.Gly245Val	RCV000424123	missense variant	Neoplasm of brain	NC_000017.11:g.7674229C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000417419	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000438801	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000441334	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Arg	RCV000633351	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>G	ClinVar
TP53	P04637	p.Gly245Ser	RCV000426990	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000430002	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000428113	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000434535	missense variant	-	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Val	rs121912656	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674229C>A	ExAC,gnomAD
TP53	P04637	p.Gly245Cys	rs28934575	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>A	UniProt,dbSNP
TP53	P04637	p.Gly245Cys	VAR_005972	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>A	UniProt
TP53	P04637	p.Gly245Ala	rs121912656	missense variant	-	NC_000017.11:g.7674229C>G	UniProt,dbSNP
TP53	P04637	p.Gly245Ala	VAR_005971	missense variant	-	NC_000017.11:g.7674229C>G	UniProt
TP53	P04637	p.Gly245Asp	rs121912656	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674229C>T	ExAC,gnomAD
TP53	P04637	p.Gly245Arg	rs28934575	missense variant	-	NC_000017.11:g.7674230C>G	UniProt,dbSNP
TP53	P04637	p.Gly245Arg	VAR_045238	missense variant	-	NC_000017.11:g.7674230C>G	UniProt
TP53	P04637	p.Gly245Ala	rs121912656	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674229C>G	ExAC,gnomAD
TP53	P04637	p.Gly245Cys	RCV000440886	missense variant	Neoplasm of brain	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000148909	missense variant	Adenocarcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000419767	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000417593	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000426307	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000418673	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000785316	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000425471	missense variant	Glioblastoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	rs28934575	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>T	UniProt,dbSNP
TP53	P04637	p.Gly245Ser	VAR_005974	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674230C>T	UniProt
TP53	P04637	p.Gly245Ser	RCV000442529	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000436186	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Cys	RCV000426090	missense variant	-	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Cys	RCV000436330	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Cys	RCV000428895	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000421457	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000442506	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000440197	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Ser	RCV000438107	missense variant	-	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000432120	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000437643	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Ser	RCV000430925	missense variant	Neoplasm of brain	NC_000017.11:g.7674230C>T	ClinVar
TP53	P04637	p.Gly245Cys	RCV000424262	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674230C>A	ClinVar
TP53	P04637	p.Gly245Val	rs121912656	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>A	UniProt,dbSNP
TP53	P04637	p.Gly245Val	VAR_005975	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674229C>A	UniProt
TP53	P04637	p.Gly245Phe	VAR_045851	Missense	-	-	UniProt
TP53	P04637	p.Gly245Leu	VAR_045853	Missense	-	-	UniProt
TP53	P04637	p.Gly245Asn	VAR_045854	Missense	-	-	UniProt
TP53	P04637	p.Gly245His	VAR_045852	Missense	-	-	UniProt
TP53	P04637	p.Gly245Glu	VAR_045237	Missense	-	-	UniProt
TP53	P04637	p.Met246Ile	RCV000561491	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674225C>T	ClinVar
TP53	P04637	p.Met246Leu	RCV000166380	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674227T>G	ClinVar
TP53	P04637	p.Met246Thr	RCV000492075	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674226A>G	ClinVar
TP53	P04637	p.Met246Lys	RCV000797952	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674226A>T	ClinVar
TP53	P04637	p.Met246Lys	RCV000574219	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674226A>T	ClinVar
TP53	P04637	p.Met246Thr	RCV000785245	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674226A>G	ClinVar
TP53	P04637	p.Met246Arg	RCV000115734	missense variant	-	NC_000017.11:g.7674226A>C	ClinVar
TP53	P04637	p.Met246Val	RCV000161036	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674227T>C	ClinVar
TP53	P04637	p.Met246Leu	RCV000470073	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674227T>A	ClinVar
TP53	P04637	p.Met246Thr	rs587780074	missense variant	-	NC_000017.11:g.7674226A>G	UniProt,dbSNP
TP53	P04637	p.Met246Thr	VAR_005977	missense variant	-	NC_000017.11:g.7674226A>G	UniProt
TP53	P04637	p.Met246Lys	rs587780074	missense variant	-	NC_000017.11:g.7674226A>T	-
TP53	P04637	p.Met246Val	rs483352695	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674227T>C	UniProt,dbSNP
TP53	P04637	p.Met246Val	VAR_005978	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674227T>C	UniProt
TP53	P04637	p.Met246Leu	rs483352695	missense variant	-	NC_000017.11:g.7674227T>G	UniProt,dbSNP
TP53	P04637	p.Met246Leu	VAR_044020	missense variant	-	NC_000017.11:g.7674227T>G	UniProt
TP53	P04637	p.Met246Ile	rs1019340046	missense variant	-	NC_000017.11:g.7674225C>T	TOPMed
TP53	P04637	p.Met246Arg	rs587780074	missense variant	-	NC_000017.11:g.7674226A>C	UniProt,dbSNP
TP53	P04637	p.Met246Arg	VAR_005976	missense variant	-	NC_000017.11:g.7674226A>C	UniProt
TP53	P04637	p.Met246Lys	VAR_045240	Missense	-	-	UniProt
TP53	P04637	p.Asn247Ser	rs786201762	missense variant	-	NC_000017.11:g.7674223T>C	UniProt,dbSNP
TP53	P04637	p.Asn247Ser	VAR_045243	missense variant	-	NC_000017.11:g.7674223T>C	UniProt
TP53	P04637	p.Asn247Ser	RCV000457243	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674223T>C	ClinVar
TP53	P04637	p.Asn247Ile	RCV000785503	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674223T>A	ClinVar
TP53	P04637	p.Asn247Ile	rs786201762	missense variant	-	NC_000017.11:g.7674223T>A	UniProt,dbSNP
TP53	P04637	p.Asn247Ile	VAR_005980	missense variant	-	NC_000017.11:g.7674223T>A	UniProt
TP53	P04637	p.AsnArg247AsnTrp	rs1555525498	missense variant	-	NC_000017.11:g.7674221_7674222delinsAA	-
TP53	P04637	p.Asn247Phe	VAR_045855	Missense	-	-	UniProt
TP53	P04637	p.Asn247_Arg248delinsIlePro	VAR_047187	deletion_insertion	-	-	UniProt
TP53	P04637	p.Asn247_Arg248delinsLysTrp	VAR_047188	deletion_insertion	-	-	UniProt
TP53	P04637	p.Asn247Lys	VAR_045242	Missense	-	-	UniProt
TP53	P04637	p.Asn247Thr	VAR_047189	Missense	-	-	UniProt
TP53	P04637	p.Asn247Tyr	VAR_045244	Missense	-	-	UniProt
TP53	P04637	p.Arg248Pro	rs11540652	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674220C>G	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg248Leu	rs11540652	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674220C>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg248Gly	rs121912651	missense variant	-	NC_000017.11:g.7674221G>C	UniProt,dbSNP
TP53	P04637	p.Arg248Gly	VAR_005981	missense variant	-	NC_000017.11:g.7674221G>C	UniProt
TP53	P04637	p.Arg248Gly	rs121912651	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674221G>C	ExAC,gnomAD
TP53	P04637	p.Arg248Gln	rs11540652	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674220C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg248Trp	RCV000444845	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000433611	missense variant	Small cell lung cancer	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000441010	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Pro	RCV000419610	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000426089	missense variant	Neoplasm of brain	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000229442	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000433865	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000438698	missense variant	Neoplasm	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000440422	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000431663	missense variant	Glioblastoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000425773	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000443867	missense variant	-	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000445266	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000633396	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000444356	missense variant	Glioblastoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Pro	RCV000424795	missense variant	Myelodysplastic syndrome (MDS)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000418531	missense variant	-	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000435803	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000434831	missense variant	Neoplasm of the breast	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000429221	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000430044	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000219834	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000445145	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000419032	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000440686	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000425394	missense variant	-	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000419857	missense variant	Small cell lung cancer	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000435488	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000444805	missense variant	Small cell lung cancer	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000420936	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Gln	RCV000115736	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674220C>T	ClinVar
TP53	P04637	p.Arg248Leu	RCV000428586	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000424394	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000441018	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000439516	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000424119	missense variant	Myelodysplastic syndrome (MDS)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000432304	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000441674	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000443630	missense variant	Glioblastoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000445077	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Gly	RCV000425782	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Leu	RCV000422821	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000418894	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000423468	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000424308	missense variant	-	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000444130	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000420292	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Trp	RCV000418495	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000430964	missense variant	-	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000438849	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000437940	missense variant	Neoplasm of the breast	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000423159	missense variant	-	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000432999	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000434177	missense variant	Small cell lung cancer	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000443712	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000440334	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000431689	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000436398	missense variant	-	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000442243	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000433905	missense variant	Neoplasm of brain	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000431508	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000434504	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000425083	missense variant	Myelodysplastic syndrome (MDS)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000440560	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000423804	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000436038	missense variant	Neoplasm of brain	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000419150	missense variant	Glioblastoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000425100	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000424776	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000422668	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000430543	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000435050	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000427948	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000430735	missense variant	-	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000423184	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000437882	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000424415	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000441557	missense variant	-	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000432931	missense variant	Myelodysplastic syndrome (MDS)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000444427	missense variant	-	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000444519	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000432207	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000429777	missense variant	Neoplasm of the breast	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000626118	missense variant	Carcinoma of colon (CRC)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000420498	missense variant	Neoplasm of the breast	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000425682	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000441091	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000429884	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000417693	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000423297	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000418362	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	RCV000785485	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674221G>A	ClinVar
TP53	P04637	p.Arg248Gly	RCV000435353	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000427544	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Gly	RCV000441711	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7674221G>C	ClinVar
TP53	P04637	p.Arg248Trp	rs121912651	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674221G>A	UniProt,dbSNP
TP53	P04637	p.Arg248Trp	VAR_005984	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674221G>A	UniProt
TP53	P04637	p.Arg248Trp	rs121912651	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674221G>A	ExAC,gnomAD
TP53	P04637	p.Arg248Leu	RCV000427307	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000435726	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000436850	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000430314	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000435101	missense variant	-	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000439901	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000421633	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Pro	RCV000425414	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000433237	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Leu	RCV000422303	missense variant	Neoplasm of brain	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Pro	RCV000436124	missense variant	-	NC_000017.11:g.7674220C>G	ClinVar
TP53	P04637	p.Arg248Leu	RCV000417894	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7674220C>A	ClinVar
TP53	P04637	p.Arg248Trp	RCV000499534	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674221_7674222delinsAA	ClinVar
TP53	P04637	p.Arg248Cys	VAR_045245	Missense	-	-	UniProt
TP53	P04637	p.Arg249Trp	rs587782082	missense variant	-	NC_000017.11:g.7674218T>A	UniProt,dbSNP
TP53	P04637	p.Arg249Trp	VAR_045250	missense variant	-	NC_000017.11:g.7674218T>A	UniProt
TP53	P04637	p.Arg249Lys	rs587782329	missense variant	-	NC_000017.11:g.7674217C>T	UniProt,dbSNP
TP53	P04637	p.Arg249Lys	VAR_045248	missense variant	-	NC_000017.11:g.7674217C>T	UniProt
TP53	P04637	p.Arg249Thr	rs587782329	missense variant	-	NC_000017.11:g.7674217C>G	UniProt,dbSNP
TP53	P04637	p.Arg249Thr	VAR_045249	missense variant	-	NC_000017.11:g.7674217C>G	UniProt
TP53	P04637	p.Arg249Trp	RCV000130578	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674218T>A	ClinVar
TP53	P04637	p.Arg249Ser	RCV000785491	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674216C>A	ClinVar
TP53	P04637	p.Arg249Thr	RCV000426063	missense variant	Neoplasm of the breast	NC_000017.11:g.7674217C>G	ClinVar
TP53	P04637	p.Arg249Gly	RCV000467567	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674218T>C	ClinVar
TP53	P04637	p.Arg249Met	RCV000782360	missense variant	Neoplasm of ovary	NC_000017.11:g.7674217C>A	ClinVar
TP53	P04637	p.Arg249Lys	RCV000131246	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674217C>T	ClinVar
TP53	P04637	p.Arg249Lys	RCV000724753	missense variant	-	NC_000017.11:g.7674217C>T	ClinVar
TP53	P04637	p.Arg249Ser	rs28934571	missense variant	-	NC_000017.11:g.7674216C>A	UniProt,dbSNP
TP53	P04637	p.Arg249Ser	VAR_005986	missense variant	-	NC_000017.11:g.7674216C>A	UniProt
TP53	P04637	p.Arg249Met	rs587782329	missense variant	-	NC_000017.11:g.7674217C>A	UniProt,dbSNP
TP53	P04637	p.Arg249Met	VAR_033037	missense variant	-	NC_000017.11:g.7674217C>A	UniProt
TP53	P04637	p.Arg249Gly	rs587782082	missense variant	-	NC_000017.11:g.7674218T>C	UniProt,dbSNP
TP53	P04637	p.Arg249Gly	VAR_005985	missense variant	-	NC_000017.11:g.7674218T>C	UniProt
TP53	P04637	p.Arg249Ser	RCV000465003	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674216C>G	ClinVar
TP53	P04637	p.Arg249_Pro250delinsSerSer	VAR_047191	deletion_insertion	-	-	UniProt
TP53	P04637	p.Arg249Ile	VAR_045247	Missense	-	-	UniProt
TP53	P04637	p.Arg249Asn	VAR_045856	Missense	-	-	UniProt
TP53	P04637	p.Arg249_Pro250delinsSerAla	VAR_047190	deletion_insertion	-	-	UniProt
TP53	P04637	p.Pro250Leu	rs1064794311	missense variant	-	NC_000017.11:g.7674214G>A	UniProt,dbSNP
TP53	P04637	p.Pro250Leu	VAR_047192	missense variant	-	NC_000017.11:g.7674214G>A	UniProt
TP53	P04637	p.Pro250Leu	RCV000479937	missense variant	-	NC_000017.11:g.7674214G>A	ClinVar
TP53	P04637	p.Pro250His	VAR_045252	Missense	-	-	UniProt
TP53	P04637	p.Pro250Ser	VAR_045254	Missense	-	-	UniProt
TP53	P04637	p.Pro250Gln	VAR_045253	Missense	-	-	UniProt
TP53	P04637	p.Pro250Phe	VAR_045857	Missense	-	-	UniProt
TP53	P04637	p.Pro250Thr	VAR_045255	Missense	-	-	UniProt
TP53	P04637	p.Pro250Ala	VAR_045251	Missense	-	-	UniProt
TP53	P04637	p.Pro250Asn	VAR_045858	Missense	-	-	UniProt
TP53	P04637	p.Ile251Met	RCV000633326	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674210G>C	ClinVar
TP53	P04637	p.Ile251Leu	RCV000785277	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674212T>G	ClinVar
TP53	P04637	p.Ile251Ser	RCV000161070	missense variant	-	NC_000017.11:g.7674211A>C	ClinVar
TP53	P04637	p.Ile251Met	RCV000564022	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674210G>C	ClinVar
TP53	P04637	p.Ile251Asn	RCV000633360	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674211A>T	ClinVar
TP53	P04637	p.Ile251Leu	RCV000492548	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674212T>G	ClinVar
TP53	P04637	p.Ile251Ser	rs730882027	missense variant	-	NC_000017.11:g.7674211A>C	ExAC,gnomAD
TP53	P04637	p.Ile251Met	rs878854074	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674210G>C	UniProt,dbSNP
TP53	P04637	p.Ile251Met	VAR_045258	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674210G>C	UniProt
TP53	P04637	p.Ile251Thr	rs730882027	missense variant	-	NC_000017.11:g.7674211A>G	ExAC,gnomAD
TP53	P04637	p.Ile251Asn	rs730882027	missense variant	-	NC_000017.11:g.7674211A>T	ExAC,gnomAD
TP53	P04637	p.Ile251Thr	RCV000506798	missense variant	-	NC_000017.11:g.7674211A>G	ClinVar
TP53	P04637	p.Ile251Ter	RCV000785350	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674215del	ClinVar
TP53	P04637	p.Ile251Asn	VAR_005987	Missense	-	-	UniProt
TP53	P04637	p.Ile251Val	VAR_045260	Missense	-	-	UniProt
TP53	P04637	p.Ile251Phe	VAR_045256	Missense	-	-	UniProt
TP53	P04637	p.Ile251Thr	VAR_045259	Missense	-	-	UniProt
TP53	P04637	p.Leu252Pro	RCV000013143	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674208A>G	ClinVar
TP53	P04637	p.Leu252Pro	rs121912653	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674208A>G	-
TP53	P04637	p.Leu252Pro	rs121912653	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674208A>G	UniProt,dbSNP
TP53	P04637	p.Leu252Pro	VAR_005988	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674208A>G	UniProt
TP53	P04637	p.Leu252Ter	RCV000575325	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674210del	ClinVar
TP53	P04637	p.Leu252His	VAR_045262	Missense	-	-	UniProt
TP53	P04637	p.Leu252Val	VAR_045264	Missense	-	-	UniProt
TP53	P04637	p.Leu252Ile	VAR_045263	Missense	-	-	UniProt
TP53	P04637	p.Leu252Phe	VAR_045261	Missense	-	-	UniProt
TP53	P04637	p.Thr253Asn	rs1555525465	missense variant	-	NC_000017.11:g.7674205G>T	UniProt,dbSNP
TP53	P04637	p.Thr253Asn	VAR_045267	missense variant	-	NC_000017.11:g.7674205G>T	UniProt
TP53	P04637	p.Thr253Asn	rs1555525465	missense variant	-	NC_000017.11:g.7674205G>T	-
TP53	P04637	p.Thr253Asn	RCV000601887	missense variant	-	NC_000017.11:g.7674205G>T	ClinVar
TP53	P04637	p.Thr253Ser	VAR_045268	Missense	-	-	UniProt
TP53	P04637	p.Thr253Ala	VAR_045265	Missense	-	-	UniProt
TP53	P04637	p.Thr253Pro	VAR_047193	Missense	-	-	UniProt
TP53	P04637	p.Thr253Ile	VAR_045266	Missense	-	-	UniProt
TP53	P04637	p.Ile254Ser	rs1330865474	missense variant	-	NC_000017.11:g.7674202A>C	UniProt,dbSNP
TP53	P04637	p.Ile254Ser	VAR_045272	missense variant	-	NC_000017.11:g.7674202A>C	UniProt
TP53	P04637	p.Ile254Ser	rs1330865474	missense variant	-	NC_000017.11:g.7674202A>C	gnomAD
TP53	P04637	p.Ile254Val	RCV000485986	missense variant	-	NC_000017.11:g.7674203T>C	ClinVar
TP53	P04637	p.Ile254Ter	RCV000785554	frameshift	Ovarian Neoplasms	NC_000017.11:g.7674205del	ClinVar
TP53	P04637	p.Ile254Val	RCV000765398	missense variant	Adrenocortical carcinoma, hereditary (ADCC)	NC_000017.11:g.7674203T>C	ClinVar
TP53	P04637	p.Ile254Val	RCV000573924	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674203T>C	ClinVar
TP53	P04637	p.Ile254Val	RCV000477424	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674203T>C	ClinVar
TP53	P04637	p.Ile254Val	rs746601313	missense variant	-	NC_000017.11:g.7674203T>C	UniProt,dbSNP
TP53	P04637	p.Ile254Val	VAR_045273	missense variant	-	NC_000017.11:g.7674203T>C	UniProt
TP53	P04637	p.Ile254Val	rs746601313	missense variant	-	NC_000017.11:g.7674203T>C	ExAC,gnomAD
TP53	P04637	p.Ile254Met	VAR_045271	Missense	-	-	UniProt
TP53	P04637	p.Ile254Asp	VAR_045859	Missense	-	-	UniProt
TP53	P04637	p.Ile254Phe	VAR_045269	Missense	-	-	UniProt
TP53	P04637	p.Ile254Leu	VAR_045270	Missense	-	-	UniProt
TP53	P04637	p.Ile254Thr	VAR_017909	Missense	-	-	UniProt
TP53	P04637	p.Ile254Asn	VAR_017908	Missense	-	-	UniProt
TP53	P04637	p.Ile255Ser	RCV000417507	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Ser	RCV000423148	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Ser	RCV000430544	missense variant	Neoplasm of the breast	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Phe	RCV000418615	missense variant	Neoplasm of brain	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000436676	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000435616	missense variant	Glioblastoma	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000428426	missense variant	Neoplasm of the breast	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000425759	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000436027	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Ser	RCV000441504	missense variant	Neoplasm of brain	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Ser	RCV000428170	missense variant	Lung adenocarcinoma	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Asn	RCV000633370	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674199A>T	ClinVar
TP53	P04637	p.Ile255Ser	RCV000420747	missense variant	Carcinoma of esophagus	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Asn	rs876659675	missense variant	-	NC_000017.11:g.7674199A>T	UniProt,dbSNP
TP53	P04637	p.Ile255Asn	VAR_045276	missense variant	-	NC_000017.11:g.7674199A>T	UniProt
TP53	P04637	p.Ile255Ser	rs876659675	missense variant	-	NC_000017.11:g.7674199A>C	UniProt,dbSNP
TP53	P04637	p.Ile255Ser	VAR_045277	missense variant	-	NC_000017.11:g.7674199A>C	UniProt
TP53	P04637	p.Ile255Phe	rs1057519995	missense variant	-	NC_000017.11:g.7674200T>A	-
TP53	P04637	p.Ile255Phe	rs1057519995	missense variant	-	NC_000017.11:g.7674200T>A	UniProt,dbSNP
TP53	P04637	p.Ile255Phe	VAR_045274	missense variant	-	NC_000017.11:g.7674200T>A	UniProt
TP53	P04637	p.Ile255Thr	rs876659675	missense variant	-	NC_000017.11:g.7674199A>G	UniProt,dbSNP
TP53	P04637	p.Ile255Thr	VAR_045278	missense variant	-	NC_000017.11:g.7674199A>G	UniProt
TP53	P04637	p.Ile255Phe	RCV000444896	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Phe	RCV000785451	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674200T>A	ClinVar
TP53	P04637	p.Ile255Asn	RCV000221023	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674199A>T	ClinVar
TP53	P04637	p.Ile255Thr	RCV000458707	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674199A>G	ClinVar
TP53	P04637	p.Ile255Ser	RCV000441277	missense variant	Glioblastoma	NC_000017.11:g.7674199A>C	ClinVar
TP53	P04637	p.Ile255Val	VAR_045279	Missense	-	-	UniProt
TP53	P04637	p.Ile255Met	VAR_045275	Missense	-	-	UniProt
TP53	P04637	p.Thr256Pro	rs587781433	missense variant	-	NC_000017.11:g.7674197T>G	-
TP53	P04637	p.Thr256Pro	RCV000633389	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674197T>G	ClinVar
TP53	P04637	p.Thr256Ala	RCV000172827	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674197T>C	ClinVar
TP53	P04637	p.Thr256Ala	RCV000688741	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674197T>C	ClinVar
TP53	P04637	p.Thr256Ter	RCV000219279	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674193_7674197delinsTGGATGTCCTGACCTG	ClinVar
TP53	P04637	p.Thr256Ile	VAR_045280	Missense	-	-	UniProt
TP53	P04637	p.Thr256Ser	VAR_045283	Missense	-	-	UniProt
TP53	P04637	p.Thr256Pro	VAR_045282	Missense	-	-	UniProt
TP53	P04637	p.Thr256Lys	VAR_045281	Missense	-	-	UniProt
TP53	P04637	p.Leu257Gln	rs28934577	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674193A>T	UniProt,dbSNP
TP53	P04637	p.Leu257Gln	VAR_045284	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674193A>T	UniProt
TP53	P04637	p.Leu257Gln	RCV000469142	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674193A>T	ClinVar
TP53	P04637	p.Leu257Pro	rs28934577	missense variant	-	NC_000017.11:g.7674193A>G	-
TP53	P04637	p.Leu257Arg	rs28934577	missense variant	-	NC_000017.11:g.7674193A>C	UniProt,dbSNP
TP53	P04637	p.Leu257Arg	VAR_045285	missense variant	-	NC_000017.11:g.7674193A>C	UniProt
TP53	P04637	p.Leu257Pro	RCV000540536	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674193A>G	ClinVar
TP53	P04637	p.Leu257Arg	RCV000130981	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674193A>C	ClinVar
TP53	P04637	p.Leu257Pro	VAR_005989	Missense	-	-	UniProt
TP53	P04637	p.Leu257Val	VAR_045286	Missense	-	-	UniProt
TP53	P04637	p.Glu258Ter	rs121912652	stop gained	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674191C>A	ExAC,gnomAD
TP53	P04637	p.Glu258Lys	RCV000582699	missense variant	-	NC_000017.11:g.7674191C>T	ClinVar
TP53	P04637	p.Glu258Ter	RCV000785351	nonsense	Ovarian Neoplasms	NC_000017.11:g.7674191C>A	ClinVar
TP53	P04637	p.Glu258Ala	RCV000551157	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674190T>G	ClinVar
TP53	P04637	p.Glu258Gly	RCV000459389	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674190T>C	ClinVar
TP53	P04637	p.Glu258Ter	RCV000565601	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674191C>A	ClinVar
TP53	P04637	p.Glu258Ala	rs1060501201	missense variant	-	NC_000017.11:g.7674190T>G	-
TP53	P04637	p.Glu258Lys	rs121912652	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7674191C>T	ExAC,gnomAD
TP53	P04637	p.Glu258Gly	rs1060501201	missense variant	-	NC_000017.11:g.7674190T>C	-
TP53	P04637	p.Glu258Lys	rs121912652	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674191C>T	UniProt,dbSNP
TP53	P04637	p.Glu258Lys	VAR_005991	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674191C>T	UniProt
TP53	P04637	p.Glu258Val	VAR_045290	Missense	-	-	UniProt
TP53	P04637	p.Glu258Ala	VAR_045287	Missense	-	-	UniProt
TP53	P04637	p.Glu258Asp	VAR_005990	Missense	-	-	UniProt
TP53	P04637	p.Glu258Leu	VAR_045860	Missense	-	-	UniProt
TP53	P04637	p.Glu258Gln	VAR_045289	Missense	-	-	UniProt
TP53	P04637	p.Asp259Gly	RCV000774788	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674187T>C	ClinVar
TP53	P04637	p.Asp259Val	RCV000663222	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7674187T>A	ClinVar
TP53	P04637	p.Asp259Val	rs745425759	missense variant	-	NC_000017.11:g.7674187T>A	ExAC,gnomAD
TP53	P04637	p.Asp259Gly	rs745425759	missense variant	-	NC_000017.11:g.7674187T>C	ExAC,gnomAD
TP53	P04637	p.Asp259Gly	rs745425759	missense variant	-	NC_000017.11:g.7674187T>C	UniProt,dbSNP
TP53	P04637	p.Asp259Gly	VAR_045292	missense variant	-	NC_000017.11:g.7674187T>C	UniProt
TP53	P04637	p.Asp259Val	RCV000563029	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674187T>A	ClinVar
TP53	P04637	p.Asp259Gly	RCV000168379	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674187T>C	ClinVar
TP53	P04637	p.Asp259Tyr	RCV000785271	missense variant	Ovarian Neoplasms	NC_000017.11:g.7674188C>A	ClinVar
TP53	P04637	p.Asp259Tyr	VAR_033039	Missense	-	-	UniProt
TP53	P04637	p.Asp259His	VAR_045293	Missense	-	-	UniProt
TP53	P04637	p.Asp259Asn	VAR_045294	Missense	-	-	UniProt
TP53	P04637	p.Asp259Pro	VAR_045861	Missense	-	-	UniProt
TP53	P04637	p.Asp259Ser	VAR_045862	Missense	-	-	UniProt
TP53	P04637	p.Asp259Ala	VAR_047194	Missense	-	-	UniProt
TP53	P04637	p.Asp259Glu	VAR_045291	Missense	-	-	UniProt
TP53	P04637	p.Asp259Val	VAR_045295	Missense	-	-	UniProt
TP53	P04637	p.Ser260Tyr	RCV000701990	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7674184G>T	ClinVar
TP53	P04637	p.Ser260Tyr	RCV000213232	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7674184G>T	ClinVar
TP53	P04637	p.Ser260Tyr	rs876658916	missense variant	-	NC_000017.11:g.7674184G>T	UniProt,dbSNP
TP53	P04637	p.Ser260Tyr	VAR_045301	missense variant	-	NC_000017.11:g.7674184G>T	UniProt
TP53	P04637	p.Ser260Tyr	rs876658916	missense variant	-	NC_000017.11:g.7674184G>T	-
TP53	P04637	p.Ser260Pro	VAR_045299	Missense	-	-	UniProt
TP53	P04637	p.Ser260Thr	VAR_045300	Missense	-	-	UniProt
TP53	P04637	p.Ser260Phe	VAR_045298	Missense	-	-	UniProt
TP53	P04637	p.Ser260Cys	VAR_045297	Missense	-	-	UniProt
TP53	P04637	p.Ser260Ala	VAR_045296	Missense	-	-	UniProt
TP53	P04637	p.Ser261Thr	RCV000786823	missense variant	-	NC_000017.11:g.7674181C>G	ClinVar
TP53	P04637	p.Ser261Thr	rs786203396	missense variant	-	NC_000017.11:g.7674181C>G	-
TP53	P04637	p.Ser261Cys	VAR_045302	Missense	-	-	UniProt
TP53	P04637	p.Ser261Gly	VAR_045303	Missense	-	-	UniProt
TP53	P04637	p.Ser261Arg	VAR_045306	Missense	-	-	UniProt
TP53	P04637	p.Ser261Ile	VAR_045304	Missense	-	-	UniProt
TP53	P04637	p.Ser261Asn	VAR_045305	Missense	-	-	UniProt
TP53	P04637	p.Gly262Ter	RCV000492279	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673836del	ClinVar
TP53	P04637	p.Gly262Val	RCV000492458	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673835C>A	ClinVar
TP53	P04637	p.Gly262Ser	RCV000463102	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673836C>T	ClinVar
TP53	P04637	p.Gly262Ser	rs200579969	missense variant	-	NC_000017.11:g.7673836C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly262Val	rs1131691025	missense variant	-	NC_000017.11:g.7673835C>A	UniProt,dbSNP
TP53	P04637	p.Gly262Val	VAR_045309	missense variant	-	NC_000017.11:g.7673835C>A	UniProt
TP53	P04637	p.Gly262Val	rs1131691025	missense variant	-	NC_000017.11:g.7673835C>A	-
TP53	P04637	p.Gly262Ser	RCV000590725	missense variant	-	NC_000017.11:g.7673836C>T	ClinVar
TP53	P04637	p.Gly262Cys	rs200579969	missense variant	-	NC_000017.11:g.7673836C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly262Val	RCV000685621	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673835C>A	ClinVar
TP53	P04637	p.Gly262Ser	RCV000129643	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673836C>T	ClinVar
TP53	P04637	p.Gly262Ter	RCV000236733	frameshift	-	NC_000017.11:g.7673836del	ClinVar
TP53	P04637	p.Gly262Asp	VAR_047196	Missense	-	-	UniProt
TP53	P04637	p.Gly262_Asn263delinsProAsp	VAR_047195	deletion_insertion	-	-	UniProt
TP53	P04637	p.Gly262His	VAR_045863	Missense	-	-	UniProt
TP53	P04637	p.Asn263Asp	rs72661119	missense variant	-	NC_000017.11:g.7673833T>C	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Asn263Lys	RCV000569163	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673831A>T	ClinVar
TP53	P04637	p.Asn263Asp	RCV000663318	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673833T>C	ClinVar
TP53	P04637	p.Asn263His	RCV000633354	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673833T>G	ClinVar
TP53	P04637	p.Asn263His	rs72661119	missense variant	-	NC_000017.11:g.7673833T>G	1000Genomes,ExAC,gnomAD
TP53	P04637	p.Asn263Lys	rs770598448	missense variant	-	NC_000017.11:g.7673831A>T	ExAC,gnomAD
TP53	P04637	p.Asn263Ser	VAR_045314	Missense	-	-	UniProt
TP53	P04637	p.Asn263His	VAR_045311	Missense	-	-	UniProt
TP53	P04637	p.Asn263Lys	VAR_045313	Missense	-	-	UniProt
TP53	P04637	p.Asn263Ile	VAR_045312	Missense	-	-	UniProt
TP53	P04637	p.Leu264Ter	RCV000506102	frameshift	-	NC_000017.11:g.7673830del	ClinVar
TP53	P04637	p.Leu264Ter	RCV000472594	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673830del	ClinVar
TP53	P04637	p.Leu264Pro	RCV000575862	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673829A>G	ClinVar
TP53	P04637	p.Leu264Pro	rs1555525353	missense variant	-	NC_000017.11:g.7673829A>G	UniProt,dbSNP
TP53	P04637	p.Leu264Pro	VAR_045316	missense variant	-	NC_000017.11:g.7673829A>G	UniProt
TP53	P04637	p.Leu264Pro	rs1555525353	missense variant	-	NC_000017.11:g.7673829A>G	-
TP53	P04637	p.Leu264Pro	RCV000633364	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673829A>G	ClinVar
TP53	P04637	p.Leu264Arg	VAR_045318	Missense	-	-	UniProt
TP53	P04637	p.Leu264Ile	VAR_045315	Missense	-	-	UniProt
TP53	P04637	p.Leu264Gln	VAR_045317	Missense	-	-	UniProt
TP53	P04637	p.Leu264Val	VAR_045319	Missense	-	-	UniProt
TP53	P04637	p.LeuGly265LeuTer	rs1555525344	stop gained	-	NC_000017.11:g.7673824_7673825delinsAG	-
TP53	P04637	p.Leu265Pro	rs879253942	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673826A>G	UniProt,dbSNP
TP53	P04637	p.Leu265Pro	VAR_045321	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673826A>G	UniProt
TP53	P04637	p.Leu265Pro	RCV000662855	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673826A>G	ClinVar
TP53	P04637	p.Leu265Met	VAR_045320	Missense	-	-	UniProt
TP53	P04637	p.Leu265Gln	VAR_045322	Missense	-	-	UniProt
TP53	P04637	p.Leu265Arg	VAR_047197	Missense	-	-	UniProt
TP53	P04637	p.Gly266Ter	RCV000258052	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673812_7673824del	ClinVar
TP53	P04637	p.Gly266Glu	rs193920774	missense variant	-	NC_000017.11:g.7673823C>T	UniProt,dbSNP
TP53	P04637	p.Gly266Glu	VAR_045324	missense variant	-	NC_000017.11:g.7673823C>T	UniProt
TP53	P04637	p.Gly266Val	RCV000439374	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000444359	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000434911	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000422392	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000427379	missense variant	-	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Ter	RCV000584005	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673824_7673825delinsAG	ClinVar
TP53	P04637	p.Gly266Glu	RCV000709403	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673823C>T	ClinVar
TP53	P04637	p.Gly266Val	RCV000424659	missense variant	Neoplasm of brain	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000417840	missense variant	-	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000429134	missense variant	Small cell lung cancer	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Ter	RCV000785518	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673825del	ClinVar
TP53	P04637	p.Gly266Val	rs193920774	missense variant	-	NC_000017.11:g.7673823C>A	UniProt,dbSNP
TP53	P04637	p.Gly266Val	VAR_045326	missense variant	-	NC_000017.11:g.7673823C>A	UniProt
TP53	P04637	p.Gly266Arg	rs1057519990	missense variant	-	NC_000017.11:g.7673824C>T	UniProt,dbSNP
TP53	P04637	p.Gly266Arg	VAR_045325	missense variant	-	NC_000017.11:g.7673824C>T	UniProt
TP53	P04637	p.Gly266Arg	rs1057519990	missense variant	-	NC_000017.11:g.7673824C>T	gnomAD
TP53	P04637	p.Gly266Ter	rs1057519990	stop gained	-	NC_000017.11:g.7673824C>A	gnomAD
TP53	P04637	p.Gly266Glu	rs193920774	missense variant	-	NC_000017.11:g.7673823C>T	gnomAD
TP53	P04637	p.Gly266Arg	rs1057519990	missense variant	-	NC_000017.11:g.7673824C>G	gnomAD
TP53	P04637	p.Gly266Val	rs193920774	missense variant	-	NC_000017.11:g.7673823C>A	gnomAD
TP53	P04637	p.Gly266Val	RCV000445304	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000437591	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Arg	RCV000803659	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673824C>G	ClinVar
TP53	P04637	p.Gly266Arg	RCV000528667	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673824C>T	ClinVar
TP53	P04637	p.Gly266Val	RCV000435298	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000422798	missense variant	Glioblastoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000428065	missense variant	Neoplasm of the breast	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000433685	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000444283	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000440058	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000434748	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Val	RCV000423426	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673823C>A	ClinVar
TP53	P04637	p.Gly266Ala	VAR_045323	Missense	-	-	UniProt
TP53	P04637	p.Arg267Trp	rs55832599	missense variant	-	NC_000017.11:g.7673821G>A	TOPMed,gnomAD
TP53	P04637	p.Arg267Trp	rs55832599	missense variant	-	NC_000017.11:g.7673821G>A	UniProt,dbSNP
TP53	P04637	p.Arg267Trp	VAR_036507	missense variant	-	NC_000017.11:g.7673821G>A	UniProt
TP53	P04637	p.Arg267Gln	rs587780075	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673820C>T	UniProt,dbSNP
TP53	P04637	p.Arg267Gln	VAR_045330	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673820C>T	UniProt
TP53	P04637	p.Arg267Trp	RCV000413074	missense variant	-	NC_000017.11:g.7673821G>A	ClinVar
TP53	P04637	p.Arg267Trp	RCV000130398	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673821G>A	ClinVar
TP53	P04637	p.Arg267Gln	RCV000213058	missense variant	-	NC_000017.11:g.7673820C>T	ClinVar
TP53	P04637	p.Arg267Trp	RCV000538977	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673821G>A	ClinVar
TP53	P04637	p.Arg267Gln	RCV000205433	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673820C>T	ClinVar
TP53	P04637	p.Arg267Pro	RCV000492273	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673820C>G	ClinVar
TP53	P04637	p.Arg267Gln	RCV000115737	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673820C>T	ClinVar
TP53	P04637	p.Arg267Trp	RCV000763416	missense variant	Adrenocortical carcinoma, hereditary (ADCC)	NC_000017.11:g.7673821G>A	ClinVar
TP53	P04637	p.Arg267Gln	RCV000662441	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673820C>T	ClinVar
TP53	P04637	p.Arg267Pro	rs587780075	missense variant	-	NC_000017.11:g.7673820C>G	ExAC,gnomAD
TP53	P04637	p.Arg267Pro	rs587780075	missense variant	-	NC_000017.11:g.7673820C>G	UniProt,dbSNP
TP53	P04637	p.Arg267Pro	VAR_045329	missense variant	-	NC_000017.11:g.7673820C>G	UniProt
TP53	P04637	p.Arg267Gln	rs587780075	missense variant	-	NC_000017.11:g.7673820C>T	ExAC,gnomAD
TP53	P04637	p.Arg267Gly	VAR_045327	Missense	-	-	UniProt
TP53	P04637	p.Arg267His	VAR_045328	Missense	-	-	UniProt
TP53	P04637	p.Asn268Ile	VAR_045332	Missense	-	-	UniProt
TP53	P04637	p.Asn268Lys	VAR_045333	Missense	-	-	UniProt
TP53	P04637	p.Asn268Phe	VAR_045864	Missense	-	-	UniProt
TP53	P04637	p.Asn268Tyr	VAR_045335	Missense	-	-	UniProt
TP53	P04637	p.Asn268His	VAR_045331	Missense	-	-	UniProt
TP53	P04637	p.Asn268Ser	VAR_045334	Missense	-	-	UniProt
TP53	P04637	p.Ser269Thr	VAR_045340	Missense	-	-	UniProt
TP53	P04637	p.Ser269Ile	VAR_047198	Missense	-	-	UniProt
TP53	P04637	p.Ser269Arg	VAR_045339	Missense	-	-	UniProt
TP53	P04637	p.Ser269Cys	VAR_045336	Missense	-	-	UniProt
TP53	P04637	p.Ser269Asn	VAR_045338	Missense	-	-	UniProt
TP53	P04637	p.Ser269Gly	VAR_045337	Missense	-	-	UniProt
TP53	P04637	p.Phe270Ser	rs1057519986	missense variant	-	NC_000017.11:g.7673811A>G	-
TP53	P04637	p.Phe270Ser	rs1057519986	missense variant	-	NC_000017.11:g.7673811A>G	UniProt,dbSNP
TP53	P04637	p.Phe270Ser	VAR_045344	missense variant	-	NC_000017.11:g.7673811A>G	UniProt
TP53	P04637	p.Phe270Cys	RCV000424190	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000430671	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000433231	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000438906	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000420461	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000426634	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000436185	missense variant	Neoplasm of brain	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Leu	RCV000434093	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Ser	RCV000824076	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673811A>G	ClinVar
TP53	P04637	p.Phe270Cys	RCV000432351	missense variant	-	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000432152	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000441020	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000435460	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000434574	missense variant	Neoplasm of the breast	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000417883	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Leu	RCV000442796	missense variant	-	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000443933	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000785520	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673812A>G	ClinVar
TP53	P04637	p.Phe270Cys	RCV000422786	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000443062	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000425222	missense variant	-	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000436003	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Val	RCV000443210	missense variant	Neoplasm of the breast	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000418371	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Ile	RCV000427865	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Leu	RCV000423824	missense variant	Neoplasm of the breast	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000440467	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Ile	RCV000425994	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Cys	RCV000422121	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000435260	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000425855	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Val	RCV000438306	missense variant	Neoplasm of brain	NC_000017.11:g.7673812A>C	ClinVar
TP53	P04637	p.Phe270Ter	RCV000130388	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673805_7673814del	ClinVar
TP53	P04637	p.Phe270Leu	rs1057519987	missense variant	-	NC_000017.11:g.7673810A>C	UniProt,dbSNP
TP53	P04637	p.Phe270Leu	VAR_045343	missense variant	-	NC_000017.11:g.7673810A>C	UniProt
TP53	P04637	p.Phe270Leu	rs1057519987	missense variant	-	NC_000017.11:g.7673810A>C	-
TP53	P04637	p.Phe270Ile	rs1057519988	missense variant	-	NC_000017.11:g.7673812A>T	UniProt,dbSNP
TP53	P04637	p.Phe270Ile	VAR_045342	missense variant	-	NC_000017.11:g.7673812A>T	UniProt
TP53	P04637	p.Phe270Ile	rs1057519988	missense variant	-	NC_000017.11:g.7673812A>T	-
TP53	P04637	p.Phe270Cys	rs1057519986	missense variant	-	NC_000017.11:g.7673811A>C	UniProt,dbSNP
TP53	P04637	p.Phe270Cys	VAR_045341	missense variant	-	NC_000017.11:g.7673811A>C	UniProt
TP53	P04637	p.Phe270Cys	rs1057519986	missense variant	-	NC_000017.11:g.7673811A>C	-
TP53	P04637	p.Phe270Val	rs1057519988	missense variant	-	NC_000017.11:g.7673812A>C	UniProt,dbSNP
TP53	P04637	p.Phe270Val	VAR_045345	missense variant	-	NC_000017.11:g.7673812A>C	UniProt
TP53	P04637	p.Phe270Val	rs1057519988	missense variant	-	NC_000017.11:g.7673812A>C	-
TP53	P04637	p.Phe270Ter	RCV000785457	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673812del	ClinVar
TP53	P04637	p.Phe270Ile	RCV000430718	missense variant	Neoplasm of the breast	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Ile	RCV000417655	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Ile	RCV000785257	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Ile	RCV000438999	missense variant	-	NC_000017.11:g.7673812A>T	ClinVar
TP53	P04637	p.Phe270Leu	RCV000443660	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Leu	RCV000426445	missense variant	Neoplasm of brain	NC_000017.11:g.7673810A>C	ClinVar
TP53	P04637	p.Phe270Cys	RCV000433925	missense variant	Neoplasm of brain	NC_000017.11:g.7673811A>C	ClinVar
TP53	P04637	p.Phe270Tyr	VAR_045346	Missense	-	-	UniProt
TP53	P04637	p.Glu271Lys	RCV000775714	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673809C>T	ClinVar
TP53	P04637	p.Glu271Lys	RCV000457572	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673809C>T	ClinVar
TP53	P04637	p.Glu271Lys	rs1060501191	missense variant	-	NC_000017.11:g.7673809C>T	-
TP53	P04637	p.GluVal271AspMet	rs1555525303	missense variant	-	NC_000017.11:g.7673806_7673807delinsTA	-
TP53	P04637	p.Glu271Leu	RCV000689318	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673808_7673809delinsAA	ClinVar
TP53	P04637	p.Glu271AspMet	RCV000570036	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673806_7673807delinsTA	ClinVar
TP53	P04637	p.Glu271Ala	VAR_045347	Missense	-	-	UniProt
TP53	P04637	p.Glu271Asp	VAR_045348	Missense	-	-	UniProt
TP53	P04637	p.Glu271Val	VAR_047199	Missense	-	-	UniProt
TP53	P04637	p.Glu271Pro	VAR_045865	Missense	-	-	UniProt
TP53	P04637	p.Glu271Gly	VAR_045349	Missense	-	-	UniProt
TP53	P04637	p.Glu271Arg	VAR_045866	Missense	-	-	UniProt
TP53	P04637	p.Glu271Gln	VAR_045350	Missense	-	-	UniProt
TP53	P04637	p.Val272Gly	RCV000431226	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000420090	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000444340	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000422297	missense variant	Neoplasm of the breast	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000441467	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000440060	missense variant	-	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Leu	rs121912657	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673806C>A	ExAC,gnomAD
TP53	P04637	p.Val272Gly	rs876660333	missense variant	-	NC_000017.11:g.7673805A>C	UniProt,dbSNP
TP53	P04637	p.Val272Gly	VAR_045353	missense variant	-	NC_000017.11:g.7673805A>C	UniProt
TP53	P04637	p.Val272Leu	RCV000164988	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000426406	missense variant	-	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000436402	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000420507	missense variant	Neoplasm of the breast	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000424351	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000417682	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000428361	missense variant	-	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000434621	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000437100	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000434905	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000443052	missense variant	Neoplasm of the breast	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000432177	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000418746	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000443570	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000431193	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000443589	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000443071	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000432989	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000785341	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000426429	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000427077	missense variant	-	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Leu	RCV000439021	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Met	RCV000441086	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000436602	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000425268	missense variant	-	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000430105	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000429369	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000433521	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000439065	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000441216	missense variant	-	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000442761	missense variant	Neoplasm of the breast	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000422825	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000419845	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000421804	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000442953	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000434183	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Met	RCV000424542	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Met	RCV000434295	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673806C>T	ClinVar
TP53	P04637	p.Val272Leu	RCV000437706	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7673806C>A	ClinVar
TP53	P04637	p.Val272Gly	RCV000444129	missense variant	Medulloblastoma (MDB)	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000423493	missense variant	-	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Leu	rs121912657	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673806C>A	UniProt,dbSNP
TP53	P04637	p.Val272Leu	VAR_005992	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673806C>A	UniProt
TP53	P04637	p.Val272Met	rs121912657	missense variant	-	NC_000017.11:g.7673806C>T	UniProt,dbSNP
TP53	P04637	p.Val272Met	VAR_045354	missense variant	-	NC_000017.11:g.7673806C>T	UniProt
TP53	P04637	p.Val272Met	rs121912657	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673806C>T	ExAC,gnomAD
TP53	P04637	p.Val272Glu	rs876660333	missense variant	-	NC_000017.11:g.7673805A>T	-
TP53	P04637	p.Val272Glu	rs876660333	missense variant	-	NC_000017.11:g.7673805A>T	UniProt,dbSNP
TP53	P04637	p.Val272Glu	VAR_045352	missense variant	-	NC_000017.11:g.7673805A>T	UniProt
TP53	P04637	p.Val272Glu	RCV000424786	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Gly	RCV000432569	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000421439	missense variant	-	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000427960	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Gly	RCV000421184	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673805A>C	ClinVar
TP53	P04637	p.Val272Glu	RCV000438331	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Glu	RCV000427639	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673805A>T	ClinVar
TP53	P04637	p.Val272Ala	VAR_045351	Missense	-	-	UniProt
TP53	P04637	p.Arg273Pro	rs28934576	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673802C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273Cys	rs121913343	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673803G>A	UniProt,dbSNP
TP53	P04637	p.Arg273Cys	VAR_005993	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673803G>A	UniProt
TP53	P04637	p.Arg273Leu	rs28934576	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>A	UniProt,dbSNP
TP53	P04637	p.Arg273Leu	VAR_036509	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>A	UniProt
TP53	P04637	p.Arg273Leu	rs28934576	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673802C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273Ser	rs121913343	missense variant	-	NC_000017.11:g.7673803G>T	ExAC,gnomAD
TP53	P04637	p.Arg273Ser	rs121913343	missense variant	-	NC_000017.11:g.7673803G>T	UniProt,dbSNP
TP53	P04637	p.Arg273Ser	VAR_045357	missense variant	-	NC_000017.11:g.7673803G>T	UniProt
TP53	P04637	p.Arg273Pro	RCV000553607	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>G	ClinVar
TP53	P04637	p.Arg273Gly	RCV000814073	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673803G>C	ClinVar
TP53	P04637	p.Arg273Ser	RCV000561782	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673803G>T	ClinVar
TP53	P04637	p.Arg273Gly	RCV000785275	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673803G>C	ClinVar
TP53	P04637	p.Arg273Cys	RCV000205625	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673803G>A	ClinVar
TP53	P04637	p.Arg273Cys	rs121913343	missense variant	-	NC_000017.11:g.7673803G>A	ExAC,gnomAD
TP53	P04637	p.Arg273His	rs28934576	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673802C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273His	rs28934576	missense variant	-	NC_000017.11:g.7673802C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273His	rs28934576	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>T	UniProt,dbSNP
TP53	P04637	p.Arg273His	VAR_005995	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>T	UniProt
TP53	P04637	p.Arg273Leu	rs28934576	missense variant	-	NC_000017.11:g.7673802C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273Pro	rs28934576	missense variant	-	NC_000017.11:g.7673802C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg273His	RCV000115738	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673802C>T	ClinVar
TP53	P04637	p.Arg273Leu	RCV000822080	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673802C>A	ClinVar
TP53	P04637	p.Arg273Leu	RCV000568814	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673802C>A	ClinVar
TP53	P04637	p.Arg273Pro	rs28934576	missense variant	-	NC_000017.11:g.7673802C>G	UniProt,dbSNP
TP53	P04637	p.Arg273Pro	VAR_045355	missense variant	-	NC_000017.11:g.7673802C>G	UniProt
TP53	P04637	p.Arg273Asn	VAR_045867	Missense	-	-	UniProt
TP53	P04637	p.Arg273Tyr	VAR_045868	Missense	-	-	UniProt
TP53	P04637	p.Arg273Gln	VAR_045356	Missense	-	-	UniProt
TP53	P04637	p.Arg273Gly	VAR_005994	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Val274Asp	rs1057520006	missense variant	-	NC_000017.11:g.7673799A>T	UniProt,dbSNP
TP53	P04637	p.Val274Asp	VAR_045359	missense variant	-	NC_000017.11:g.7673799A>T	UniProt
TP53	P04637	p.Val274Gly	rs1057520006	missense variant	-	NC_000017.11:g.7673799A>C	UniProt,dbSNP
TP53	P04637	p.Val274Gly	VAR_047200	missense variant	-	NC_000017.11:g.7673799A>C	UniProt
TP53	P04637	p.Val274Gly	RCV000420544	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000425563	missense variant	Small cell lung cancer	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Asp	RCV000441480	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Gly	RCV000431803	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Gly	RCV000492506	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Ala	RCV000427353	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Ala	RCV000432482	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Gly	RCV000431168	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Phe	RCV000418736	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Ala	RCV000437438	missense variant	Small cell lung cancer	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Phe	RCV000436116	missense variant	Small cell lung cancer	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Gly	RCV000439046	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000431443	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Gly	RCV000438367	missense variant	Small cell lung cancer	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000443884	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Asp	RCV000436477	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Gly	RCV000441279	missense variant	Neoplasm of the breast	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Ala	RCV000421817	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Gly	RCV000437117	missense variant	Neoplasm of brain	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Phe	RCV000419355	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Ala	RCV000420150	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Ala	RCV000426772	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Ala	RCV000426067	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Leu	RCV000701251	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673800C>G	ClinVar
TP53	P04637	p.Val274Ala	RCV000438006	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Phe	RCV000429450	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Phe	RCV000440120	missense variant	Neoplasm of brain	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Phe	RCV000423526	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Asp	RCV000419239	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Gly	RCV000419865	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000424885	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Phe	RCV000430114	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Gly	RCV000421122	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Phe	RCV000440773	missense variant	Neoplasm of the breast	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Asp	RCV000424200	missense variant	Neoplasm of brain	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Ala	rs1057520006	missense variant	-	NC_000017.11:g.7673799A>G	UniProt,dbSNP
TP53	P04637	p.Val274Ala	VAR_045358	missense variant	-	NC_000017.11:g.7673799A>G	UniProt
TP53	P04637	p.Val274Leu	rs1057520005	missense variant	-	NC_000017.11:g.7673800C>G	UniProt,dbSNP
TP53	P04637	p.Val274Leu	VAR_045361	missense variant	-	NC_000017.11:g.7673800C>G	UniProt
TP53	P04637	p.Val274Phe	rs1057520005	missense variant	-	NC_000017.11:g.7673800C>A	UniProt,dbSNP
TP53	P04637	p.Val274Phe	VAR_005997	missense variant	-	NC_000017.11:g.7673800C>A	UniProt
TP53	P04637	p.Val274Asp	RCV000443016	missense variant	Neoplasm of the breast	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Phe	RCV000428932	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Ala	RCV000433292	missense variant	Neoplasm of brain	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Phe	RCV000435470	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Gly	RCV000430539	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Gly	RCV000426446	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673799A>C	ClinVar
TP53	P04637	p.Val274Asp	RCV000432106	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Ala	RCV000443517	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Asp	RCV000434236	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673799A>T	ClinVar
TP53	P04637	p.Val274Phe	RCV000418237	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673800C>A	ClinVar
TP53	P04637	p.Val274Ala	RCV000444136	missense variant	Neoplasm of the breast	NC_000017.11:g.7673799A>G	ClinVar
TP53	P04637	p.Val274Ter	RCV000697629	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673799_7673800AC[1]	ClinVar
TP53	P04637	p.Val274Ile	VAR_045360	Missense	-	-	UniProt
TP53	P04637	p.Cys275Phe	RCV000420903	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000429558	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000442601	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000431612	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Tyr	rs863224451	missense variant	-	NC_000017.11:g.7673796C>T	TOPMed,gnomAD
TP53	P04637	p.Cys275Ser	rs863224451	missense variant	-	NC_000017.11:g.7673796C>G	TOPMed,gnomAD
TP53	P04637	p.Cys275Arg	RCV000432909	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000443110	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000424757	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000426139	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000441393	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000430390	missense variant	-	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000431136	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000425483	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Tyr	RCV000235315	missense variant	-	NC_000017.11:g.7673796C>T	ClinVar
TP53	P04637	p.Cys275Phe	RCV000428868	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000418840	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000785323	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000423743	missense variant	Neoplasm of brain	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000434455	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Ser	RCV000580293	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673796C>G	ClinVar
TP53	P04637	p.Cys275Phe	RCV000423016	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000440235	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000436058	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000441009	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Trp	RCV000785448	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673795A>C	ClinVar
TP53	P04637	p.Cys275Phe	rs863224451	missense variant	-	NC_000017.11:g.7673796C>A	UniProt,dbSNP
TP53	P04637	p.Cys275Phe	VAR_045362	missense variant	-	NC_000017.11:g.7673796C>A	UniProt
TP53	P04637	p.Cys275Arg	rs1057519983	missense variant	-	NC_000017.11:g.7673797A>G	UniProt,dbSNP
TP53	P04637	p.Cys275Arg	VAR_045364	missense variant	-	NC_000017.11:g.7673797A>G	UniProt
TP53	P04637	p.Cys275Arg	rs1057519983	missense variant	-	NC_000017.11:g.7673797A>G	-
TP53	P04637	p.Cys275Ser	rs863224451	missense variant	-	NC_000017.11:g.7673796C>G	UniProt,dbSNP
TP53	P04637	p.Cys275Ser	VAR_045365	missense variant	-	NC_000017.11:g.7673796C>G	UniProt
TP53	P04637	p.Cys275Tyr	rs863224451	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673796C>T	UniProt,dbSNP
TP53	P04637	p.Cys275Tyr	VAR_005998	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673796C>T	UniProt
TP53	P04637	p.Cys275Trp	rs1555525279	missense variant	-	NC_000017.11:g.7673795A>C	UniProt,dbSNP
TP53	P04637	p.Cys275Trp	VAR_005999	missense variant	-	NC_000017.11:g.7673795A>C	UniProt
TP53	P04637	p.Cys275Phe	rs863224451	missense variant	-	NC_000017.11:g.7673796C>A	TOPMed,gnomAD
TP53	P04637	p.Cys275Trp	rs1555525279	missense variant	-	NC_000017.11:g.7673795A>C	-
TP53	P04637	p.Cys275Trp	RCV000561423	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673795A>C	ClinVar
TP53	P04637	p.Cys275Arg	RCV000442259	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000440640	missense variant	Adrenocortical carcinoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000420225	missense variant	Neoplasm of the breast	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000420853	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000435695	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000435015	missense variant	Glioblastoma	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000418020	missense variant	Neoplasm of brain	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Arg	RCV000433579	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673797A>G	ClinVar
TP53	P04637	p.Cys275Phe	RCV000425095	missense variant	Neoplasm of the breast	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000430324	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000441652	missense variant	Glioblastoma	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Phe	RCV000432328	missense variant	-	NC_000017.11:g.7673796C>A	ClinVar
TP53	P04637	p.Cys275Gly	VAR_045363	Missense	-	-	UniProt
TP53	P04637	p.Ala276Pro	RCV000785453	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673794C>G	ClinVar
TP53	P04637	p.Ala276Gly	RCV000164718	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673793G>C	ClinVar
TP53	P04637	p.Ala276Asp	RCV000236401	missense variant	-	NC_000017.11:g.7673793G>T	ClinVar
TP53	P04637	p.Ala276Asp	RCV000223364	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673793G>T	ClinVar
TP53	P04637	p.Ala276Gly	rs786202082	missense variant	-	NC_000017.11:g.7673793G>C	UniProt,dbSNP
TP53	P04637	p.Ala276Gly	VAR_045367	missense variant	-	NC_000017.11:g.7673793G>C	UniProt
TP53	P04637	p.Ala276Pro	rs1131691029	missense variant	-	NC_000017.11:g.7673794C>G	UniProt,dbSNP
TP53	P04637	p.Ala276Pro	VAR_045368	missense variant	-	NC_000017.11:g.7673794C>G	UniProt
TP53	P04637	p.Ala276Asp	rs786202082	missense variant	-	NC_000017.11:g.7673793G>T	UniProt,dbSNP
TP53	P04637	p.Ala276Asp	VAR_045366	missense variant	-	NC_000017.11:g.7673793G>T	UniProt
TP53	P04637	p.Ala276Ser	VAR_045369	Missense	-	-	UniProt
TP53	P04637	p.Ala276Val	VAR_045371	Missense	-	-	UniProt
TP53	P04637	p.Ala276Thr	VAR_045370	Missense	-	-	UniProt
TP53	P04637	p.Cys277Phe	rs763098116	missense variant	-	NC_000017.11:g.7673790C>A	UniProt,dbSNP
TP53	P04637	p.Cys277Phe	VAR_045372	missense variant	-	NC_000017.11:g.7673790C>A	UniProt
TP53	P04637	p.Cys277Arg	RCV000819627	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673791A>G	ClinVar
TP53	P04637	p.Cys277Ter	RCV000793572	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673789A>T	ClinVar
TP53	P04637	p.Cys277Tyr	RCV000456858	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673790C>T	ClinVar
TP53	P04637	p.Cys277Phe	RCV000532028	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673790C>A	ClinVar
TP53	P04637	p.Cys277Tyr	rs763098116	missense variant	-	NC_000017.11:g.7673790C>T	UniProt,dbSNP
TP53	P04637	p.Cys277Tyr	VAR_045375	missense variant	-	NC_000017.11:g.7673790C>T	UniProt
TP53	P04637	p.Cys277Tyr	rs763098116	missense variant	-	NC_000017.11:g.7673790C>T	ExAC,gnomAD
TP53	P04637	p.Cys277Gly	rs1064795369	missense variant	-	NC_000017.11:g.7673791A>C	TOPMed
TP53	P04637	p.Cys277Gly	rs1064795369	missense variant	-	NC_000017.11:g.7673791A>C	UniProt,dbSNP
TP53	P04637	p.Cys277Gly	VAR_006000	missense variant	-	NC_000017.11:g.7673791A>C	UniProt
TP53	P04637	p.Cys277Arg	rs1064795369	missense variant	-	NC_000017.11:g.7673791A>G	TOPMed
TP53	P04637	p.Cys277Arg	rs1064795369	missense variant	-	NC_000017.11:g.7673791A>G	UniProt,dbSNP
TP53	P04637	p.Cys277Arg	VAR_045373	missense variant	-	NC_000017.11:g.7673791A>G	UniProt
TP53	P04637	p.Cys277Phe	rs763098116	missense variant	-	NC_000017.11:g.7673790C>A	ExAC,gnomAD
TP53	P04637	p.Cys277Trp	VAR_047201	Missense	-	-	UniProt
TP53	P04637	p.Cys277Ser	VAR_045374	Missense	-	-	UniProt
TP53	P04637	p.Pro278His	RCV000422133	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000435517	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000427682	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000426301	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000433513	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000428293	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278Leu	RCV000214784	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673787G>A	ClinVar
TP53	P04637	p.Pro278Leu	rs876659802	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673787G>A	UniProt,dbSNP
TP53	P04637	p.Pro278Leu	VAR_006003	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673787G>A	UniProt
TP53	P04637	p.Pro278Thr	rs17849781	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>T	UniProt,dbSNP
TP53	P04637	p.Pro278Thr	VAR_006005	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>T	UniProt
TP53	P04637	p.Pro278His	RCV000444453	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000417607	missense variant	Neoplasm of brain	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000433712	missense variant	-	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000437485	missense variant	Neoplasm of the breast	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278His	RCV000420265	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278Arg	RCV000797363	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673787G>C	ClinVar
TP53	P04637	p.Pro278His	RCV000443564	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278Ser	RCV000435645	missense variant	Neoplasm of the breast	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000421997	missense variant	-	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000444293	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000442821	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000426679	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000433428	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Thr	RCV000626445	missense variant	-	NC_000017.11:g.7673788G>T	ClinVar
TP53	P04637	p.Pro278Ser	RCV000427714	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000432977	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ala	RCV000688854	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>C	ClinVar
TP53	P04637	p.Pro278His	rs876659802	missense variant	-	NC_000017.11:g.7673787G>T	UniProt,dbSNP
TP53	P04637	p.Pro278His	VAR_006002	missense variant	-	NC_000017.11:g.7673787G>T	UniProt
TP53	P04637	p.Pro278Ala	rs17849781	missense variant	-	NC_000017.11:g.7673788G>C	UniProt,dbSNP
TP53	P04637	p.Pro278Ala	VAR_006001	missense variant	-	NC_000017.11:g.7673788G>C	UniProt
TP53	P04637	p.Pro278Arg	rs876659802	missense variant	-	NC_000017.11:g.7673787G>C	UniProt,dbSNP
TP53	P04637	p.Pro278Arg	VAR_045376	missense variant	-	NC_000017.11:g.7673787G>C	UniProt
TP53	P04637	p.Pro278Ser	rs17849781	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>A	UniProt,dbSNP
TP53	P04637	p.Pro278Ser	VAR_006004	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673788G>A	UniProt
TP53	P04637	p.Pro278Ser	RCV000437941	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000785527	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000427094	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000443572	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ala	RCV000567850	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673788G>C	ClinVar
TP53	P04637	p.Pro278His	RCV000424797	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673787G>T	ClinVar
TP53	P04637	p.Pro278Arg	RCV000572417	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673787G>C	ClinVar
TP53	P04637	p.Pro278Ser	RCV000439725	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Ser	RCV000432228	missense variant	Neoplasm of brain	NC_000017.11:g.7673788G>A	ClinVar
TP53	P04637	p.Pro278Phe	VAR_045869	Missense	-	-	UniProt
TP53	P04637	p.Gly279Glu	RCV000584418	missense variant	-	NC_000017.11:g.7673784C>T	ClinVar
TP53	P04637	p.Gly279Arg	rs1555525248	missense variant	-	NC_000017.11:g.7673785C>T	UniProt,dbSNP
TP53	P04637	p.Gly279Arg	VAR_045377	missense variant	-	NC_000017.11:g.7673785C>T	UniProt
TP53	P04637	p.Gly279Arg	rs1555525248	missense variant	-	NC_000017.11:g.7673785C>T	-
TP53	P04637	p.Gly279Glu	rs1064793881	missense variant	-	NC_000017.11:g.7673784C>T	UniProt,dbSNP
TP53	P04637	p.Gly279Glu	VAR_006006	missense variant	-	NC_000017.11:g.7673784C>T	UniProt
TP53	P04637	p.Gly279Arg	RCV000566142	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673785C>T	ClinVar
TP53	P04637	p.Gly279Arg	RCV000547189	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673785C>T	ClinVar
TP53	P04637	p.Gly279Val	VAR_045378	Missense	-	-	UniProt
TP53	P04637	p.Gly279Trp	VAR_045379	Missense	-	-	UniProt
TP53	P04637	p.Arg280Gly	rs753660142	missense variant	-	NC_000017.11:g.7673782T>C	ExAC,gnomAD
TP53	P04637	p.Arg280Lys	RCV000436148	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000419067	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ile	RCV000417523	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000433708	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000444610	missense variant	Small cell lung cancer	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000434213	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Thr	RCV000013167	missense variant	Nasopharyngeal carcinoma	NC_000017.11:g.7673781C>G	ClinVar
TP53	P04637	p.Arg280Lys	RCV000431165	missense variant	Neoplasm of the breast	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000438915	missense variant	Neoplasm of the breast	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ile	RCV000421544	missense variant	-	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ile	RCV000434436	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000418023	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000427666	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000428952	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000437418	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000492483	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000423739	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000442077	missense variant	Neoplasm of brain	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000425612	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000425366	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000423448	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000428734	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Lys	RCV000438568	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000445006	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ile	RCV000438665	missense variant	-	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000444685	missense variant	-	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000442289	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000440980	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000428657	missense variant	Neoplasm of brain	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000433592	missense variant	-	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Gly	RCV000426479	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000421324	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000438255	missense variant	Neoplasm of the breast	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000427170	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000785300	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000439157	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000436708	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000445156	missense variant	Uterine cervical neoplasms	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Ile	RCV000435871	missense variant	Nasopharyngeal Neoplasms	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000423933	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000426315	missense variant	Small cell lung cancer	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Lys	RCV000436528	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673781C>T	ClinVar
TP53	P04637	p.Arg280Ile	RCV000419744	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ile	RCV000429336	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673781C>A	ClinVar
TP53	P04637	p.Arg280Ter	RCV000772426	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673781del	ClinVar
TP53	P04637	p.Arg280Gly	RCV000439812	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000431582	missense variant	-	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000429590	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000419917	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000418465	missense variant	Small cell lung cancer	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000430194	missense variant	-	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000420625	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Lys	rs121912660	missense variant	-	NC_000017.11:g.7673781C>T	UniProt,dbSNP
TP53	P04637	p.Arg280Lys	VAR_006007	missense variant	-	NC_000017.11:g.7673781C>T	UniProt
TP53	P04637	p.Arg280Ile	rs121912660	missense variant	-	NC_000017.11:g.7673781C>A	UniProt,dbSNP
TP53	P04637	p.Arg280Ile	VAR_006008	missense variant	-	NC_000017.11:g.7673781C>A	UniProt
TP53	P04637	p.Arg280Thr	rs121912660	missense variant	-	NC_000017.11:g.7673781C>G	UniProt,dbSNP
TP53	P04637	p.Arg280Thr	VAR_006009	missense variant	-	NC_000017.11:g.7673781C>G	UniProt
TP53	P04637	p.Arg280Gly	RCV000568150	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000435565	missense variant	Neoplasm of brain	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000424417	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Gly	RCV000439619	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673782T>C	ClinVar
TP53	P04637	p.Arg280Ser	RCV000785449	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673780T>G	ClinVar
TP53	P04637	p.Arg280Pro	VAR_045381	Missense	-	-	UniProt
TP53	P04637	p.Arg280Ser	VAR_045382	Missense	-	-	UniProt
TP53	P04637	p.Asp281Gly	rs587781525	missense variant	-	NC_000017.11:g.7673778T>C	UniProt,dbSNP
TP53	P04637	p.Asp281Gly	VAR_006012	missense variant	-	NC_000017.11:g.7673778T>C	UniProt
TP53	P04637	p.Asp281His	rs764146326	missense variant	-	NC_000017.11:g.7673779C>G	UniProt,dbSNP
TP53	P04637	p.Asp281His	VAR_006013	missense variant	-	NC_000017.11:g.7673779C>G	UniProt
TP53	P04637	p.Asp281His	rs764146326	missense variant	-	NC_000017.11:g.7673779C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Asp281Glu	rs1057519984	missense variant	-	NC_000017.11:g.7673777G>T	UniProt,dbSNP
TP53	P04637	p.Asp281Glu	VAR_006011	missense variant	-	NC_000017.11:g.7673777G>T	UniProt
TP53	P04637	p.Asp281Glu	RCV000470818	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673777G>T	ClinVar
TP53	P04637	p.Asp281Glu	RCV000633352	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673777G>C	ClinVar
TP53	P04637	p.Asp281Glu	RCV000499361	missense variant	Carcinoma of colon (CRC)	NC_000017.11:g.7673777G>T	ClinVar
TP53	P04637	p.Asp281Ala	RCV000427537	missense variant	-	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000417517	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000438210	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000442104	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000434194	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000418100	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000435611	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281His	RCV000427301	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000427507	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000420094	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000429671	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000436837	missense variant	-	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000435784	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000443934	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000432892	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000442214	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000433406	missense variant	Neuroblastoma (NBLST1)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000426125	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000440916	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000435739	missense variant	Neoplasm of the breast	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000440361	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000419849	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Gly	RCV000633367	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673778T>C	ClinVar
TP53	P04637	p.Asp281Val	RCV000215048	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000423894	missense variant	Glioblastoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000431328	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000425979	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000423186	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000442965	missense variant	-	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000438736	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000440602	missense variant	Glioblastoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000430790	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000422679	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Ala	RCV000424893	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000433464	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ter	RCV000691758	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673778_7673779TC[2]	ClinVar
TP53	P04637	p.Asp281His	RCV000419869	missense variant	-	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000428355	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000434610	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000422034	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000439212	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000438193	missense variant	Neoplasm of the breast	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000423682	missense variant	Uterine Carcinosarcoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000443566	missense variant	Glioblastoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281Asn	RCV000824609	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673779C>T	ClinVar
TP53	P04637	p.Asp281His	RCV000437082	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000425401	missense variant	-	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000417569	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000443096	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Ala	RCV000420104	missense variant	Neoplasm of the breast	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000435682	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	RCV000428503	missense variant	-	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Gly	RCV000129516	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673778T>C	ClinVar
TP53	P04637	p.Asp281Ala	RCV000429708	missense variant	Multiple myeloma (MM)	NC_000017.11:g.7673778T>G	ClinVar
TP53	P04637	p.Asp281Val	RCV000441595	missense variant	Neuroblastoma (NBLST1)	NC_000017.11:g.7673778T>A	ClinVar
TP53	P04637	p.Asp281Val	rs587781525	missense variant	-	NC_000017.11:g.7673778T>A	UniProt,dbSNP
TP53	P04637	p.Asp281Val	VAR_006014	missense variant	-	NC_000017.11:g.7673778T>A	UniProt
TP53	P04637	p.Asp281Asn	rs764146326	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673779C>T	UniProt,dbSNP
TP53	P04637	p.Asp281Asn	VAR_047202	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673779C>T	UniProt
TP53	P04637	p.Asp281Asn	rs764146326	missense variant	-	NC_000017.11:g.7673779C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Asp281Ala	rs587781525	missense variant	-	NC_000017.11:g.7673778T>G	UniProt,dbSNP
TP53	P04637	p.Asp281Ala	VAR_006010	missense variant	-	NC_000017.11:g.7673778T>G	UniProt
TP53	P04637	p.Asp281Tyr	rs764146326	missense variant	-	NC_000017.11:g.7673779C>A	UniProt,dbSNP
TP53	P04637	p.Asp281Tyr	VAR_045383	missense variant	-	NC_000017.11:g.7673779C>A	UniProt
TP53	P04637	p.Asp281Tyr	rs764146326	missense variant	-	NC_000017.11:g.7673779C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Asp281Tyr	RCV000792342	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673779C>A	ClinVar
TP53	P04637	p.Asp281His	RCV000421295	missense variant	Neuroblastoma (NBLST1)	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000418744	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000429459	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281His	RCV000439019	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673779C>G	ClinVar
TP53	P04637	p.Asp281Glu	RCV000658764	missense variant	-	NC_000017.11:g.7673777G>T	ClinVar
TP53	P04637	p.Asp281Ter	RCV000570263	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673777_7673778insC	ClinVar
TP53	P04637	p.Asp281_Arg282delinsGluTrp	VAR_047203	deletion_insertion	-	-	UniProt
TP53	P04637	p.Asp281Arg	VAR_045870	Missense	-	-	UniProt
TP53	P04637	p.Arg282Gly	rs28934574	missense variant	-	NC_000017.11:g.7673776G>C	ESP,ExAC,gnomAD
TP53	P04637	p.Arg282Gly	rs28934574	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673776G>C	UniProt,dbSNP
TP53	P04637	p.Arg282Gly	VAR_045384	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673776G>C	UniProt
TP53	P04637	p.Arg282Trp	rs28934574	missense variant	-	NC_000017.11:g.7673776G>A	ESP,ExAC,gnomAD
TP53	P04637	p.Arg282Gly	RCV000419993	missense variant	Neoplasm of brain	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000435503	missense variant	-	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000430393	missense variant	Malignant neoplasm of body of uterus	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Ter	RCV000492443	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673777del	ClinVar
TP53	P04637	p.Arg282Leu	RCV000213059	missense variant	-	NC_000017.11:g.7673775C>A	ClinVar
TP53	P04637	p.Arg282Gly	RCV000785299	missense variant	Ovarian Neoplasms	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000437895	missense variant	-	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000440653	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000442540	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000437219	missense variant	Neoplasm of the breast	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Leu	RCV000161038	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673775C>A	ClinVar
TP53	P04637	p.Arg282Pro	RCV000709402	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673775C>G	ClinVar
TP53	P04637	p.Arg282Gln	RCV000226273	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673775C>T	ClinVar
TP53	P04637	p.Arg282Gln	rs730882008	missense variant	-	NC_000017.11:g.7673775C>T	TOPMed,gnomAD
TP53	P04637	p.Arg282Leu	rs730882008	missense variant	-	NC_000017.11:g.7673775C>A	TOPMed,gnomAD
TP53	P04637	p.Arg282Gly	RCV000431764	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000425179	missense variant	Glioblastoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000445294	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000440446	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Trp	RCV000210145	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673776G>A	ClinVar
TP53	P04637	p.Arg282Gly	RCV000432433	missense variant	Squamous cell lung carcinoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000419333	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000422747	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000430047	missense variant	Adenocarcinoma of prostate	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000422134	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Trp	rs28934574	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673776G>A	UniProt,dbSNP
TP53	P04637	p.Arg282Trp	VAR_006016	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673776G>A	UniProt
TP53	P04637	p.Arg282Leu	RCV000633381	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673775C>A	ClinVar
TP53	P04637	p.Arg282Gly	RCV000442627	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000422367	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Gly	RCV000427647	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673776G>C	ClinVar
TP53	P04637	p.Arg282Pro	rs730882008	missense variant	-	NC_000017.11:g.7673775C>G	TOPMed,gnomAD
TP53	P04637	p.Arg282His	VAR_045385	Missense	-	-	UniProt
TP53	P04637	p.Arg283Pro	RCV000565161	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673772C>G	ClinVar
TP53	P04637	p.Arg283Cys	RCV000200641	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673773G>A	ClinVar
TP53	P04637	p.Arg283Ter	RCV000633386	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673773_7673776delinsCT	ClinVar
TP53	P04637	p.Arg283Ser	rs149633775	missense variant	-	NC_000017.11:g.7673773G>T	UniProt,dbSNP
TP53	P04637	p.Arg283Ser	VAR_045389	missense variant	-	NC_000017.11:g.7673773G>T	UniProt
TP53	P04637	p.Arg283Ser	rs149633775	missense variant	-	NC_000017.11:g.7673773G>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg283His	rs371409680	missense variant	-	NC_000017.11:g.7673772C>T	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg283Pro	rs371409680	missense variant	-	NC_000017.11:g.7673772C>G	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg283Cys	rs149633775	missense variant	-	NC_000017.11:g.7673773G>A	ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg283Cys	rs149633775	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673773G>A	UniProt,dbSNP
TP53	P04637	p.Arg283Cys	VAR_006017	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673773G>A	UniProt
TP53	P04637	p.Arg283Ter	RCV000552974	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673763_7673772del	ClinVar
TP53	P04637	p.Arg283His	RCV000507738	missense variant	-	NC_000017.11:g.7673772C>T	ClinVar
TP53	P04637	p.Arg283Pro	VAR_006020	Missense	-	-	UniProt
TP53	P04637	p.Arg283Leu	VAR_045388	Missense	-	-	UniProt
TP53	P04637	p.Arg283Gly	VAR_006018	Missense	-	-	UniProt
TP53	P04637	p.Thr284Ile	RCV000569733	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673769G>A	ClinVar
TP53	P04637	p.Thr284Ser	RCV000563243	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673770T>A	ClinVar
TP53	P04637	p.Thr284Ser	RCV000546011	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673770T>A	ClinVar
TP53	P04637	p.Thr284Ile	RCV000197045	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673769G>A	ClinVar
TP53	P04637	p.Thr284Pro	rs1204379654	missense variant	-	NC_000017.11:g.7673770T>G	TOPMed
TP53	P04637	p.Thr284Pro	rs1204379654	missense variant	-	NC_000017.11:g.7673770T>G	UniProt,dbSNP
TP53	P04637	p.Thr284Pro	VAR_006022	missense variant	-	NC_000017.11:g.7673770T>G	UniProt
TP53	P04637	p.Thr284Ile	rs863224685	missense variant	-	NC_000017.11:g.7673769G>A	UniProt,dbSNP
TP53	P04637	p.Thr284Ile	VAR_045390	missense variant	-	NC_000017.11:g.7673769G>A	UniProt
TP53	P04637	p.Thr284Ile	rs863224685	missense variant	-	NC_000017.11:g.7673769G>A	TOPMed
TP53	P04637	p.Thr284Ser	rs1204379654	missense variant	-	NC_000017.11:g.7673770T>A	TOPMed
TP53	P04637	p.Thr284Ile	RCV000483278	missense variant	-	NC_000017.11:g.7673769G>A	ClinVar
TP53	P04637	p.Thr284Lys	VAR_045391	Missense	-	-	UniProt
TP53	P04637	p.Thr284Ala	VAR_006021	Missense	-	-	UniProt
TP53	P04637	p.Glu285Lys	RCV000492206	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673767C>T	ClinVar
TP53	P04637	p.Glu285Lys	RCV000479542	missense variant	-	NC_000017.11:g.7673767C>T	ClinVar
TP53	P04637	p.Glu285Val	RCV000013184	missense variant	Adrenocortical carcinoma, pediatric	NC_000017.11:g.7673766T>A	ClinVar
TP53	P04637	p.Glu285Val	RCV000813961	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673766T>A	ClinVar
TP53	P04637	p.Glu285Val	rs121912667	missense variant	-	NC_000017.11:g.7673766T>A	ExAC,gnomAD
TP53	P04637	p.Glu285Val	rs121912667	missense variant	-	NC_000017.11:g.7673766T>A	UniProt,dbSNP
TP53	P04637	p.Glu285Val	VAR_006025	missense variant	-	NC_000017.11:g.7673766T>A	UniProt
TP53	P04637	p.Glu285Val	RCV000013185	missense variant	Choroid plexus carcinoma (CPC)	NC_000017.11:g.7673766T>A	ClinVar
TP53	P04637	p.Glu285Gln	VAR_006024	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Glu285Asp	VAR_045393	Missense	-	-	UniProt
TP53	P04637	p.Glu285Gly	VAR_045394	Missense	-	-	UniProt
TP53	P04637	p.Glu285Ala	VAR_045392	Missense	-	-	UniProt
TP53	P04637	p.Glu286Gln	RCV000422952	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Lys	RCV000162466	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673764C>T	ClinVar
TP53	P04637	p.Glu286Gln	RCV000428433	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000425968	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000428400	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Ter	RCV000785476	nonsense	Ovarian Neoplasms	NC_000017.11:g.7673764C>A	ClinVar
TP53	P04637	p.Glu286Gln	RCV000441313	missense variant	Neoplasm of the breast	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	rs786201059	missense variant	-	NC_000017.11:g.7673764C>G	UniProt,dbSNP
TP53	P04637	p.Glu286Gln	VAR_006030	missense variant	-	NC_000017.11:g.7673764C>G	UniProt
TP53	P04637	p.Glu286Lys	rs786201059	missense variant	-	NC_000017.11:g.7673764C>T	UniProt,dbSNP
TP53	P04637	p.Glu286Lys	VAR_006029	missense variant	-	NC_000017.11:g.7673764C>T	UniProt
TP53	P04637	p.Glu286Val	RCV000443133	missense variant	Small cell lung cancer	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000443104	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000432539	missense variant	-	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000430190	missense variant	-	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000443946	missense variant	-	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000438282	missense variant	Neoplasm of brain	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000437905	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000433092	missense variant	Neoplasm of the breast	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000439537	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000436172	missense variant	Adenocarcinoma of stomach	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000425922	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000427672	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000435554	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000440264	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000419358	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000424971	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Gly	RCV000556558	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673763T>C	ClinVar
TP53	P04637	p.Glu286Ala	RCV000444095	missense variant	-	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000420631	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Lys	RCV000255724	missense variant	-	NC_000017.11:g.7673764C>T	ClinVar
TP53	P04637	p.Glu286Gln	RCV000433190	missense variant	Small cell lung cancer	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000435596	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000435774	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000436841	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000423598	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000442043	missense variant	Neoplasm of brain	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000431245	missense variant	-	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000441497	missense variant	Hepatocellular carcinoma (HCC)	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000418557	missense variant	Lung adenocarcinoma	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gln	RCV000418192	missense variant	-	NC_000017.11:g.7673764C>G	ClinVar
TP53	P04637	p.Glu286Gly	rs1057519985	missense variant	-	NC_000017.11:g.7673763T>C	UniProt,dbSNP
TP53	P04637	p.Glu286Gly	VAR_006028	missense variant	-	NC_000017.11:g.7673763T>C	UniProt
TP53	P04637	p.Glu286Val	rs1057519985	missense variant	-	NC_000017.11:g.7673763T>A	UniProt,dbSNP
TP53	P04637	p.Glu286Val	VAR_045395	missense variant	-	NC_000017.11:g.7673763T>A	UniProt
TP53	P04637	p.Glu286Ala	rs1057519985	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673763T>G	UniProt,dbSNP
TP53	P04637	p.Glu286Ala	VAR_006026	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673763T>G	UniProt
TP53	P04637	p.Glu286Ala	RCV000443500	missense variant	Ovarian Serous Cystadenocarcinoma	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000417903	missense variant	Carcinoma of esophagus	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000430027	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000423414	missense variant	Acute myeloid leukemia (AML)	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000434375	missense variant	Malignant melanoma of skin (CMM)	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000430739	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000421331	missense variant	Neoplasm of the large intestine	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000443287	missense variant	Small cell lung cancer	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Ala	RCV000431576	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Val	RCV000424403	missense variant	Pancreatic adenocarcinoma	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Val	RCV000423140	missense variant	Neoplasm of the breast	NC_000017.11:g.7673763T>A	ClinVar
TP53	P04637	p.Glu286Ala	RCV000421888	missense variant	Neoplasm of brain	NC_000017.11:g.7673763T>G	ClinVar
TP53	P04637	p.Glu286Lys	RCV000466372	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673764C>T	ClinVar
TP53	P04637	p.Glu286Leu	VAR_045871	Missense	-	-	UniProt
TP53	P04637	p.Glu286Asp	VAR_006027	Missense	-	-	UniProt
TP53	P04637	p.Glu287Lys	RCV000130426	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673761C>T	ClinVar
TP53	P04637	p.Glu287Asp	RCV000481706	missense variant	-	NC_000017.11:g.7673759C>G	ClinVar
TP53	P04637	p.Glu287Asp	RCV000568299	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673759C>G	ClinVar
TP53	P04637	p.Glu287Lys	RCV000813960	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673761C>T	ClinVar
TP53	P04637	p.Glu287Lys	rs587782006	missense variant	-	NC_000017.11:g.7673761C>T	UniProt,dbSNP
TP53	P04637	p.Glu287Lys	VAR_045398	missense variant	-	NC_000017.11:g.7673761C>T	UniProt
TP53	P04637	p.Glu287Lys	rs587782006	missense variant	-	NC_000017.11:g.7673761C>T	ExAC,gnomAD
TP53	P04637	p.Glu287Asp	rs748891343	missense variant	-	NC_000017.11:g.7673759C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu287Asp	rs748891343	missense variant	-	NC_000017.11:g.7673759C>G	UniProt,dbSNP
TP53	P04637	p.Glu287Asp	VAR_045396	missense variant	-	NC_000017.11:g.7673759C>G	UniProt
TP53	P04637	p.Glu287Val	VAR_045399	Missense	-	-	UniProt
TP53	P04637	p.Glu287Gly	VAR_045397	Missense	-	-	UniProt
TP53	P04637	p.Glu287Ala	VAR_047204	Missense	-	-	UniProt
TP53	P04637	p.Asn288Ter	RCV000571294	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673772_7673773insCTTCTCTTCCTCTGTGC	ClinVar
TP53	P04637	p.Asn288Ter	RCV000564408	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673759_7673760CT[3]	ClinVar
TP53	P04637	p.Asn288Thr	VAR_045403	Missense	-	-	UniProt
TP53	P04637	p.Asn288Ser	VAR_045402	Missense	-	-	UniProt
TP53	P04637	p.Asn288Lys	VAR_045401	Missense	-	-	UniProt
TP53	P04637	p.Asn288Tyr	VAR_045404	Missense	-	-	UniProt
TP53	P04637	p.Asn288Asp	VAR_045400	Missense	-	-	UniProt
TP53	P04637	p.Leu289Val	rs1555525154	missense variant	-	NC_000017.11:g.7673755G>C	UniProt,dbSNP
TP53	P04637	p.Leu289Val	VAR_045409	missense variant	-	NC_000017.11:g.7673755G>C	UniProt
TP53	P04637	p.Leu289Val	rs1555525154	missense variant	-	NC_000017.11:g.7673755G>C	-
TP53	P04637	p.Leu289Val	RCV000588420	missense variant	-	NC_000017.11:g.7673755G>C	ClinVar
TP53	P04637	p.Leu289His	VAR_045406	Missense	-	-	UniProt
TP53	P04637	p.Leu289Phe	VAR_045405	Missense	-	-	UniProt
TP53	P04637	p.Leu289Arg	VAR_045408	Missense	-	-	UniProt
TP53	P04637	p.Leu289Pro	VAR_045407	Missense	-	-	UniProt
TP53	P04637	p.ArgLys290ArgGln	rs1060501205	missense variant	-	NC_000017.11:g.7673749_7673750delinsGT	-
TP53	P04637	p.Arg290His	RCV000620742	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673751C>T	ClinVar
TP53	P04637	p.Arg290Leu	RCV000781912	missense variant	-	NC_000017.11:g.7673751C>A	ClinVar
TP53	P04637	p.Arg290Cys	RCV000236248	missense variant	-	NC_000017.11:g.7673752G>A	ClinVar
TP53	P04637	p.Arg290Cys	RCV000198910	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673752G>A	ClinVar
TP53	P04637	p.Arg290Cys	RCV000492120	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673752G>A	ClinVar
TP53	P04637	p.Arg290Gly	RCV000773647	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673752G>C	ClinVar
TP53	P04637	p.Arg290Pro	RCV000535005	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673751C>G	ClinVar
TP53	P04637	p.Arg290His	RCV000760102	missense variant	-	NC_000017.11:g.7673751C>T	ClinVar
TP53	P04637	p.Arg290His	RCV000213061	missense variant	-	NC_000017.11:g.7673751C>T	ClinVar
TP53	P04637	p.Arg290His	rs55819519	missense variant	-	NC_000017.11:g.7673751C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg290Pro	rs55819519	missense variant	-	NC_000017.11:g.7673751C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg290Cys	rs770374782	missense variant	-	NC_000017.11:g.7673752G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg290Leu	VAR_045412	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Lys291Gln	RCV000471030	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673749_7673750delinsGT	ClinVar
TP53	P04637	p.Lys291Asn	RCV000774787	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673747C>G	ClinVar
TP53	P04637	p.Lys291Glu	RCV000575139	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673749T>C	ClinVar
TP53	P04637	p.Lys291Arg	rs781490101	missense variant	-	NC_000017.11:g.7673748T>C	ExAC,gnomAD
TP53	P04637	p.Lys291Arg	rs781490101	missense variant	-	NC_000017.11:g.7673748T>C	UniProt,dbSNP
TP53	P04637	p.Lys291Arg	VAR_045416	missense variant	-	NC_000017.11:g.7673748T>C	UniProt
TP53	P04637	p.Lys291Asn	rs372613518	missense variant	-	NC_000017.11:g.7673747C>G	UniProt,dbSNP
TP53	P04637	p.Lys291Asn	VAR_045415	missense variant	-	NC_000017.11:g.7673747C>G	UniProt
TP53	P04637	p.Lys291Asn	rs372613518	missense variant	-	NC_000017.11:g.7673747C>G	ESP
TP53	P04637	p.Lys291Glu	rs1555525126	missense variant	-	NC_000017.11:g.7673749T>C	UniProt,dbSNP
TP53	P04637	p.Lys291Glu	VAR_045413	missense variant	-	NC_000017.11:g.7673749T>C	UniProt
TP53	P04637	p.Lys291Glu	rs1555525126	missense variant	-	NC_000017.11:g.7673749T>C	-
TP53	P04637	p.Lys291Ter	RCV000545094	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673750dup	ClinVar
TP53	P04637	p.Lys291Asn	RCV000820689	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673747C>G	ClinVar
TP53	P04637	p.Lys291Glu	RCV000806261	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673749T>C	ClinVar
TP53	P04637	p.Lys291Thr	VAR_045417	Missense	-	-	UniProt
TP53	P04637	p.Lys291Met	VAR_045414	Missense	-	-	UniProt
TP53	P04637	p.Lys291Gln	VAR_047205	Missense	-	-	UniProt
TP53	P04637	p.Lys292Arg	rs121912663	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673745T>C	gnomAD
TP53	P04637	p.Lys292Arg	RCV000457955	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673745T>C	ClinVar
TP53	P04637	p.Lys292Ile	RCV000013177	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673745T>A	ClinVar
TP53	P04637	p.Lys292Arg	RCV000573281	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673745T>C	ClinVar
TP53	P04637	p.Lys292Ile	rs121912663	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7673745T>A	gnomAD
TP53	P04637	p.Lys292Arg	rs121912663	missense variant	-	NC_000017.11:g.7673745T>C	UniProt,dbSNP
TP53	P04637	p.Lys292Arg	VAR_045421	missense variant	-	NC_000017.11:g.7673745T>C	UniProt
TP53	P04637	p.Lys292Ile	rs121912663	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673745T>A	UniProt,dbSNP
TP53	P04637	p.Lys292Ile	VAR_015819	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673745T>A	UniProt
TP53	P04637	p.Lys292Gln	VAR_045420	Missense	-	-	UniProt
TP53	P04637	p.Lys292Gly	VAR_045872	Missense	-	-	UniProt
TP53	P04637	p.Lys292Asn	VAR_045419	Missense	-	-	UniProt
TP53	P04637	p.Lys292Thr	VAR_045422	Missense	-	-	UniProt
TP53	P04637	p.Lys292Glu	VAR_045418	Missense	-	-	UniProt
TP53	P04637	p.Gly293Arg	rs587780076	missense variant	-	NC_000017.11:g.7673743C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly293Arg	rs587780076	missense variant	-	NC_000017.11:g.7673743C>T	UniProt,dbSNP
TP53	P04637	p.Gly293Arg	VAR_045424	missense variant	-	NC_000017.11:g.7673743C>T	UniProt
TP53	P04637	p.Gly293Trp	RCV000115741	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673743C>A	ClinVar
TP53	P04637	p.Gly293Trp	RCV000213062	missense variant	-	NC_000017.11:g.7673743C>A	ClinVar
TP53	P04637	p.Gly293Trp	RCV000462367	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673743C>A	ClinVar
TP53	P04637	p.Gly293Arg	RCV000219408	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673743C>T	ClinVar
TP53	P04637	p.Gly293Trp	RCV000410614	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7673743C>A	ClinVar
TP53	P04637	p.Gly293Trp	rs587780076	missense variant	-	NC_000017.11:g.7673743C>A	UniProt,dbSNP
TP53	P04637	p.Gly293Trp	VAR_045426	missense variant	-	NC_000017.11:g.7673743C>A	UniProt
TP53	P04637	p.Gly293Trp	rs587780076	missense variant	-	NC_000017.11:g.7673743C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly293Val	VAR_045425	Missense	-	-	UniProt
TP53	P04637	p.Gly293Ala	VAR_045423	Missense	-	-	UniProt
TP53	P04637	p.Glu294Ter	rs1057520607	stop gained	-	NC_000017.11:g.7673740C>A	-
TP53	P04637	p.Glu294Asp	rs1305324490	missense variant	-	NC_000017.11:g.7673738C>G	gnomAD
TP53	P04637	p.Glu294Asp	rs1305324490	missense variant	-	NC_000017.11:g.7673738C>G	UniProt,dbSNP
TP53	P04637	p.Glu294Asp	VAR_045428	missense variant	-	NC_000017.11:g.7673738C>G	UniProt
TP53	P04637	p.Glu294Ter	RCV000433836	nonsense	-	NC_000017.11:g.7673740C>A	ClinVar
TP53	P04637	p.Glu294Gln	VAR_045430	Missense	-	-	UniProt
TP53	P04637	p.Glu294Lys	VAR_047206	Missense	-	-	UniProt
TP53	P04637	p.Glu294Val	VAR_045431	Missense	-	-	UniProt
TP53	P04637	p.Glu294Gly	VAR_045429	Missense	-	-	UniProt
TP53	P04637	p.Glu294Ala	VAR_045427	Missense	-	-	UniProt
TP53	P04637	p.Pro295Leu	rs751713111	missense variant	-	NC_000017.11:g.7673736G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro295Ser	rs1131691006	missense variant	-	NC_000017.11:g.7673737G>A	UniProt,dbSNP
TP53	P04637	p.Pro295Ser	VAR_045435	missense variant	-	NC_000017.11:g.7673737G>A	UniProt
TP53	P04637	p.Pro295Ser	rs1131691006	missense variant	-	NC_000017.11:g.7673737G>A	gnomAD
TP53	P04637	p.Pro295Ser	RCV000492128	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673737G>A	ClinVar
TP53	P04637	p.Pro295Leu	RCV000633374	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673736G>A	ClinVar
TP53	P04637	p.Pro295Leu	RCV000486525	missense variant	-	NC_000017.11:g.7673736G>A	ClinVar
TP53	P04637	p.Pro295Arg	rs751713111	missense variant	-	NC_000017.11:g.7673736G>C	ExAC,TOPMed,gnomAD
TP53	P04637	p.Pro295Leu	RCV000774786	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673736G>A	ClinVar
TP53	P04637	p.Pro295His	VAR_045432	Missense	-	-	UniProt
TP53	P04637	p.His296Tyr	rs672601296	missense variant	-	NC_000017.11:g.7673734G>A	UniProt,dbSNP
TP53	P04637	p.His296Tyr	VAR_045440	missense variant	-	NC_000017.11:g.7673734G>A	UniProt
TP53	P04637	p.His296Tyr	RCV000486480	missense variant	-	NC_000017.11:g.7673734G>A	ClinVar
TP53	P04637	p.His296Tyr	RCV000774785	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673734G>A	ClinVar
TP53	P04637	p.His296Arg	RCV000087174	missense variant	-	NC_000017.11:g.7673733T>C	ClinVar
TP53	P04637	p.His296Tyr	RCV000633378	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673734G>A	ClinVar
TP53	P04637	p.His296Arg	rs483352696	missense variant	-	NC_000017.11:g.7673733T>C	UniProt,dbSNP
TP53	P04637	p.His296Arg	VAR_045439	missense variant	-	NC_000017.11:g.7673733T>C	UniProt
TP53	P04637	p.His296Arg	rs483352696	missense variant	-	NC_000017.11:g.7673733T>C	-
TP53	P04637	p.His296Ter	RCV000785495	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673728_7673732del	ClinVar
TP53	P04637	p.His296Asn	VAR_045437	Missense	-	-	UniProt
TP53	P04637	p.His296Leu	VAR_047207	Missense	-	-	UniProt
TP53	P04637	p.His296Cys	VAR_045873	Missense	-	-	UniProt
TP53	P04637	p.His296Asp	VAR_045436	Missense	-	-	UniProt
TP53	P04637	p.His296Pro	VAR_006031	Missense	-	-	UniProt
TP53	P04637	p.His296Gln	VAR_045438	Missense	-	-	UniProt
TP53	P04637	p.His297Arg	RCV000214757	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673730T>C	ClinVar
TP53	P04637	p.His297Arg	rs876659477	missense variant	-	NC_000017.11:g.7673730T>C	-
TP53	P04637	p.His297Asn	VAR_045442	Missense	-	-	UniProt
TP53	P04637	p.His297Pro	VAR_045443	Missense	-	-	UniProt
TP53	P04637	p.His297Tyr	VAR_045445	Missense	-	-	UniProt
TP53	P04637	p.His297Asp	VAR_045441	Missense	-	-	UniProt
TP53	P04637	p.Glu298Gln	rs201744589	missense variant	-	NC_000017.11:g.7673728C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu298Gln	rs201744589	missense variant	-	NC_000017.11:g.7673728C>G	UniProt,dbSNP
TP53	P04637	p.Glu298Gln	VAR_045449	missense variant	-	NC_000017.11:g.7673728C>G	UniProt
TP53	P04637	p.Glu298Lys	rs201744589	missense variant	-	NC_000017.11:g.7673728C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu298Ter	RCV000559898	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673728C>A	ClinVar
TP53	P04637	p.Glu298Ter	RCV000216964	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673728C>A	ClinVar
TP53	P04637	p.Glu298Lys	RCV000130033	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673728C>T	ClinVar
TP53	P04637	p.Glu298Lys	rs201744589	missense variant	-	NC_000017.11:g.7673728C>T	UniProt,dbSNP
TP53	P04637	p.Glu298Lys	VAR_045448	missense variant	-	NC_000017.11:g.7673728C>T	UniProt
TP53	P04637	p.Glu298Ter	rs201744589	stop gained	-	NC_000017.11:g.7673728C>A	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu298Ter	RCV000785528	nonsense	Ovarian Neoplasms	NC_000017.11:g.7673728C>A	ClinVar
TP53	P04637	p.Glu298Ter	RCV000079204	nonsense	-	NC_000017.11:g.7673728C>A	ClinVar
TP53	P04637	p.Glu298Val	VAR_045450	Missense	-	-	UniProt
TP53	P04637	p.Glu298Ala	VAR_045446	Missense	-	-	UniProt
TP53	P04637	p.Glu298Asp	VAR_045447	Missense	-	-	UniProt
TP53	P04637	p.Leu299Ter	RCV000584285	frameshift	-	NC_000017.11:g.7673715_7673728del	ClinVar
TP53	P04637	p.Leu299Val	VAR_045454	Missense	-	-	UniProt
TP53	P04637	p.Leu299Gln	VAR_045452	Missense	-	-	UniProt
TP53	P04637	p.Leu299Pro	VAR_045451	Missense	-	-	UniProt
TP53	P04637	p.Leu299Arg	VAR_045453	Missense	-	-	UniProt
TP53	P04637	p.Pro300Ser	VAR_045457	Missense	-	-	UniProt
TP53	P04637	p.Pro300Ala	VAR_045455	Missense	-	-	UniProt
TP53	P04637	p.Pro300Arg	VAR_006032	Missense	-	-	UniProt
TP53	P04637	p.Pro301Ter	RCV000219373	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673722del	ClinVar
TP53	P04637	p.Pro301Leu	rs1555525067	missense variant	-	NC_000017.11:g.7673718G>A	UniProt,dbSNP
TP53	P04637	p.Pro301Leu	VAR_006033	missense variant	-	NC_000017.11:g.7673718G>A	UniProt
TP53	P04637	p.Pro301Leu	rs1555525067	missense variant	-	NC_000017.11:g.7673718G>A	-
TP53	P04637	p.Pro301Leu	RCV000574619	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673718G>A	ClinVar
TP53	P04637	p.Pro301Ala	VAR_045458	Missense	-	-	UniProt
TP53	P04637	p.Pro301Thr	VAR_047208	Missense	-	-	UniProt
TP53	P04637	p.Pro301Gln	VAR_045459	Missense	-	-	UniProt
TP53	P04637	p.Pro301Ser	VAR_045460	Missense	-	-	UniProt
TP53	P04637	p.Gly302Arg	rs863224686	missense variant	-	NC_000017.11:g.7673716C>G	UniProt,dbSNP
TP53	P04637	p.Gly302Arg	VAR_045462	missense variant	-	NC_000017.11:g.7673716C>G	UniProt
TP53	P04637	p.Gly302Arg	rs863224686	missense variant	-	NC_000017.11:g.7673716C>G	-
TP53	P04637	p.Gly302Glu	RCV000468864	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673715C>T	ClinVar
TP53	P04637	p.Gly302Glu	rs1060501202	missense variant	-	NC_000017.11:g.7673715C>T	-
TP53	P04637	p.Gly302Arg	RCV000197011	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673716C>G	ClinVar
TP53	P04637	p.Gly302Val	VAR_006035	Missense	-	-	UniProt
TP53	P04637	p.Gly302Ala	VAR_045461	Missense	-	-	UniProt
TP53	P04637	p.Ser303Asn	RCV000700080	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673712C>T	ClinVar
TP53	P04637	p.Ser303Ter	RCV000164675	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673716del	ClinVar
TP53	P04637	p.Ser303Asn	RCV000218916	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673712C>T	ClinVar
TP53	P04637	p.Ser303Gly	RCV000549010	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673713T>C	ClinVar
TP53	P04637	p.Ser303Gly	RCV000760105	missense variant	-	NC_000017.11:g.7673713T>C	ClinVar
TP53	P04637	p.Ser303Gly	RCV000131400	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673713T>C	ClinVar
TP53	P04637	p.Ser303Ter	RCV000785534	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673712_7673713insCCCC	ClinVar
TP53	P04637	p.Ser303Asn	rs876658714	missense variant	-	NC_000017.11:g.7673712C>T	-
TP53	P04637	p.Ser303Gly	rs587782391	missense variant	-	NC_000017.11:g.7673713T>C	TOPMed
TP53	P04637	p.Ser303Ile	VAR_045464	Missense	-	-	UniProt
TP53	P04637	p.Ser303Thr	VAR_045466	Missense	-	-	UniProt
TP53	P04637	p.Ser303Cys	VAR_045463	Missense	-	-	UniProt
TP53	P04637	p.Thr304Ala	rs587782654	missense variant	-	NC_000017.11:g.7673710T>C	UniProt,dbSNP
TP53	P04637	p.Thr304Ala	VAR_045467	missense variant	-	NC_000017.11:g.7673710T>C	UniProt
TP53	P04637	p.Thr304Ala	rs587782654	missense variant	-	NC_000017.11:g.7673710T>C	ExAC,gnomAD
TP53	P04637	p.Thr304Ala	RCV000132069	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673710T>C	ClinVar
TP53	P04637	p.Thr304Ile	VAR_045468	Missense	-	-	UniProt
TP53	P04637	p.Thr304Ser	VAR_047209	Missense	-	-	UniProt
TP53	P04637	p.Thr304Asn	VAR_045469	Missense	-	-	UniProt
TP53	P04637	p.Lys305Ter	RCV000776787	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673708dup	ClinVar
TP53	P04637	p.Lys305Asn	VAR_045472	Missense	-	-	UniProt
TP53	P04637	p.Lys305Arg	VAR_045473	Missense	-	-	UniProt
TP53	P04637	p.Lys305Met	VAR_045471	Missense	-	-	UniProt
TP53	P04637	p.Lys305Thr	VAR_045474	Missense	-	-	UniProt
TP53	P04637	p.Lys305Glu	VAR_045470	Missense	-	-	UniProt
TP53	P04637	p.Arg306Gln	rs1048095040	missense variant	-	NC_000017.11:g.7673703C>T	gnomAD
TP53	P04637	p.Arg306Gln	RCV000527123	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673703C>T	ClinVar
TP53	P04637	p.Arg306Ter	RCV000422102	nonsense	Head and Neck Neoplasms	NC_000017.11:g.7673704G>A	ClinVar
TP53	P04637	p.Arg306Ter	RCV000428901	nonsense	Neoplasm of the large intestine	NC_000017.11:g.7673704G>A	ClinVar
TP53	P04637	p.Arg306Ter	rs121913344	stop gained	-	NC_000017.11:g.7673704G>A	-
TP53	P04637	p.Arg306Pro	VAR_045475	Missense	Li-Fraumeni syndrome (LFS) [MIM:151623]	-	UniProt
TP53	P04637	p.Ala307Gly	RCV000568377	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673608G>C	ClinVar
TP53	P04637	p.Ala307Val	rs1457582183	missense variant	-	NC_000017.11:g.7673608G>A	TOPMed
TP53	P04637	p.Ala307Gly	rs1457582183	missense variant	-	NC_000017.11:g.7673608G>C	TOPMed
TP53	P04637	p.Ala307Pro	VAR_045476	Missense	-	-	UniProt
TP53	P04637	p.Ala307Thr	VAR_006037	Missense	-	-	UniProt
TP53	P04637	p.Ala307Ser	VAR_045477	Missense	-	-	UniProt
TP53	P04637	p.Leu308Met	VAR_045478	Missense	-	-	UniProt
TP53	P04637	p.Leu308Val	VAR_045479	Missense	-	-	UniProt
TP53	P04637	p.Pro309Ser	RCV000537437	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673603G>A	ClinVar
TP53	P04637	p.Pro309Ser	RCV000574214	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673603G>A	ClinVar
TP53	P04637	p.Pro309Ser	rs1555525012	missense variant	-	NC_000017.11:g.7673603G>A	-
TP53	P04637	p.Pro309Ser	rs1555525012	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673603G>A	UniProt,dbSNP
TP53	P04637	p.Pro309Ser	VAR_006038	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673603G>A	UniProt
TP53	P04637	p.Pro309Arg	VAR_045480	Missense	-	-	UniProt
TP53	P04637	p.Asn310Lys	RCV000221944	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673598G>T	ClinVar
TP53	P04637	p.Asn310Lys	rs876660829	missense variant	-	NC_000017.11:g.7673598G>T	gnomAD
TP53	P04637	p.Asn310Lys	RCV000492463	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673598G>C	ClinVar
TP53	P04637	p.Asn310Lys	RCV000797410	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673598G>T	ClinVar
TP53	P04637	p.Asn310Lys	rs876660829	missense variant	-	NC_000017.11:g.7673598G>C	gnomAD
TP53	P04637	p.Asn310Ile	VAR_045481	Missense	-	-	UniProt
TP53	P04637	p.Asn310Thr	VAR_045482	Missense	-	-	UniProt
TP53	P04637	p.Asn311Thr	RCV000205077	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673596T>G	ClinVar
TP53	P04637	p.Asn311His	RCV000774977	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673597T>G	ClinVar
TP53	P04637	p.Asn311Ter	RCV000785552	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673595del	ClinVar
TP53	P04637	p.Asn311Ser	RCV000473016	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673596T>C	ClinVar
TP53	P04637	p.Asn311Ser	rs56184981	missense variant	-	NC_000017.11:g.7673596T>C	-
TP53	P04637	p.Asn311Ser	rs56184981	missense variant	-	NC_000017.11:g.7673596T>C	UniProt,dbSNP
TP53	P04637	p.Asn311Ser	VAR_045485	missense variant	-	NC_000017.11:g.7673596T>C	UniProt
TP53	P04637	p.Asn311His	rs1555525007	missense variant	-	NC_000017.11:g.7673597T>G	UniProt,dbSNP
TP53	P04637	p.Asn311His	VAR_045483	missense variant	-	NC_000017.11:g.7673597T>G	UniProt
TP53	P04637	p.Asn311Thr	rs56184981	missense variant	-	NC_000017.11:g.7673596T>G	-
TP53	P04637	p.Asn311Thr	rs56184981	missense variant	-	NC_000017.11:g.7673596T>G	UniProt,dbSNP
TP53	P04637	p.Asn311Thr	VAR_045486	missense variant	-	NC_000017.11:g.7673596T>G	UniProt
TP53	P04637	p.Asn311Lys	VAR_045484	Missense	-	-	UniProt
TP53	P04637	p.Thr312Ser	RCV000129462	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673593G>C	ClinVar
TP53	P04637	p.Thr312Ser	rs145151284	missense variant	-	NC_000017.11:g.7673593G>C	UniProt,dbSNP
TP53	P04637	p.Thr312Ser	VAR_045488	missense variant	-	NC_000017.11:g.7673593G>C	UniProt
TP53	P04637	p.Thr312Ser	rs145151284	missense variant	-	NC_000017.11:g.7673593G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Thr312Ile	VAR_045487	Missense	-	-	UniProt
TP53	P04637	p.Ser313Ter	RCV000785505	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673583_7673592del	ClinVar
TP53	P04637	p.Ser313Arg	rs1367492395	missense variant	-	NC_000017.11:g.7673589G>T	UniProt,dbSNP
TP53	P04637	p.Ser313Arg	VAR_045492	missense variant	-	NC_000017.11:g.7673589G>T	UniProt
TP53	P04637	p.Ser313Arg	rs1367492395	missense variant	-	NC_000017.11:g.7673589G>T	TOPMed
TP53	P04637	p.Ser313Asn	VAR_045491	Missense	-	-	UniProt
TP53	P04637	p.Ser313Cys	VAR_045489	Missense	-	-	UniProt
TP53	P04637	p.Ser313Ile	VAR_045490	Missense	-	-	UniProt
TP53	P04637	p.Ser314Phe	RCV000570325	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673587G>A	ClinVar
TP53	P04637	p.Ser314Phe	RCV000456310	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673587G>A	ClinVar
TP53	P04637	p.Ser314Phe	rs751440465	missense variant	-	NC_000017.11:g.7673587G>A	ExAC,gnomAD
TP53	P04637	p.Ser315Thr	rs762620193	missense variant	-	NC_000017.11:g.7673585A>T	ExAC,gnomAD
TP53	P04637	p.Ser315Thr	RCV000793553	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673585A>T	ClinVar
TP53	P04637	p.Ser315Thr	RCV000164586	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673585A>T	ClinVar
TP53	P04637	p.Ser315Cys	VAR_045494	Missense	-	-	UniProt
TP53	P04637	p.Ser315Phe	VAR_045495	Missense	-	-	UniProt
TP53	P04637	p.Ser315Pro	VAR_045496	Missense	-	-	UniProt
TP53	P04637	p.Pro316Thr	rs772773208	missense variant	-	NC_000017.11:g.7673582G>T	ExAC,gnomAD
TP53	P04637	p.Pro316Thr	rs772773208	missense variant	-	NC_000017.11:g.7673582G>T	UniProt,dbSNP
TP53	P04637	p.Pro316Thr	VAR_045498	missense variant	-	NC_000017.11:g.7673582G>T	UniProt
TP53	P04637	p.Pro316Thr	RCV000467467	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673582G>T	ClinVar
TP53	P04637	p.Pro316Thr	RCV000235672	missense variant	-	NC_000017.11:g.7673582G>T	ClinVar
TP53	P04637	p.Pro316Leu	rs1555524979	missense variant	-	NC_000017.11:g.7673581G>A	UniProt,dbSNP
TP53	P04637	p.Pro316Leu	VAR_045497	missense variant	-	NC_000017.11:g.7673581G>A	UniProt
TP53	P04637	p.Pro316Leu	rs1555524979	missense variant	-	NC_000017.11:g.7673581G>A	-
TP53	P04637	p.Pro316Thr	RCV000215470	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673582G>T	ClinVar
TP53	P04637	p.Pro316Leu	RCV000633395	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673581G>A	ClinVar
TP53	P04637	p.Gln317Ter	rs764735889	stop gained	-	NC_000017.11:g.7673579G>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln317Arg	rs1159579789	missense variant	-	NC_000017.11:g.7673578T>C	gnomAD
TP53	P04637	p.Gln317His	rs1060501199	missense variant	-	NC_000017.11:g.7673577C>A	-
TP53	P04637	p.Gln317Arg	RCV000704730	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673578T>C	ClinVar
TP53	P04637	p.Gln317His	RCV000477030	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673577C>A	ClinVar
TP53	P04637	p.Gln317Ter	RCV000699992	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673582del	ClinVar
TP53	P04637	p.Gln317Ter	RCV000561039	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673578del	ClinVar
TP53	P04637	p.Gln317Lys	RCV000223439	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673579G>T	ClinVar
TP53	P04637	p.Gln317Lys	RCV000485421	missense variant	-	NC_000017.11:g.7673579G>T	ClinVar
TP53	P04637	p.Gln317Lys	RCV000541248	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673579G>T	ClinVar
TP53	P04637	p.Gln317Ter	RCV000520579	nonsense	-	NC_000017.11:g.7673579G>A	ClinVar
TP53	P04637	p.Gln317Lys	rs764735889	missense variant	-	NC_000017.11:g.7673579G>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln317Lys	rs764735889	missense variant	-	NC_000017.11:g.7673579G>T	UniProt,dbSNP
TP53	P04637	p.Gln317Lys	VAR_045500	missense variant	-	NC_000017.11:g.7673579G>T	UniProt
TP53	P04637	p.Gln317Ter	RCV000785340	frameshift	Ovarian Neoplasms	NC_000017.11:g.7673582del	ClinVar
TP53	P04637	p.Gln317Leu	VAR_047210	Missense	-	-	UniProt
TP53	P04637	p.Gln317Pro	VAR_045501	Missense	-	-	UniProt
TP53	P04637	p.Pro318Leu	rs1555524975	missense variant	-	NC_000017.11:g.7673575G>A	-
TP53	P04637	p.Pro318Leu	rs1555524975	missense variant	-	NC_000017.11:g.7673575G>A	UniProt,dbSNP
TP53	P04637	p.Pro318Leu	VAR_045503	missense variant	-	NC_000017.11:g.7673575G>A	UniProt
TP53	P04637	p.Pro318Leu	RCV000584424	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673575G>A	ClinVar
TP53	P04637	p.Lys319Glu	VAR_045504	Missense	-	-	UniProt
TP53	P04637	p.Lys319Arg	VAR_045506	Missense	-	-	UniProt
TP53	P04637	p.Lys319Asn	VAR_045505	Missense	-	-	UniProt
TP53	P04637	p.Lys320Asn	VAR_045507	Missense	-	-	UniProt
TP53	P04637	p.Lys321Glu	VAR_045508	Missense	-	-	UniProt
TP53	P04637	p.Lys321Arg	VAR_045509	Missense	-	-	UniProt
TP53	P04637	p.Pro322Ser	rs863224687	missense variant	-	NC_000017.11:g.7673564G>A	TOPMed
TP53	P04637	p.Pro322Ser	RCV000573146	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673564G>A	ClinVar
TP53	P04637	p.Pro322Thr	rs863224687	missense variant	-	NC_000017.11:g.7673564G>T	TOPMed
TP53	P04637	p.Pro322Thr	RCV000217039	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673564G>T	ClinVar
TP53	P04637	p.Pro322Ser	RCV000195973	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673564G>A	ClinVar
TP53	P04637	p.Pro322Arg	VAR_045511	Missense	-	-	UniProt
TP53	P04637	p.Pro322Leu	VAR_045510	Missense	-	-	UniProt
TP53	P04637	p.Leu323Ter	RCV000772929	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673545_7673563del	ClinVar
TP53	P04637	p.Leu323Val	rs1432281680	missense variant	-	NC_000017.11:g.7673561G>C	gnomAD
TP53	P04637	p.Leu323Gly	VAR_045874	Missense	-	-	UniProt
TP53	P04637	p.Leu323Arg	VAR_045514	Missense	-	-	UniProt
TP53	P04637	p.Leu323Met	VAR_045512	Missense	-	-	UniProt
TP53	P04637	p.Leu323Pro	VAR_045513	Missense	-	-	UniProt
TP53	P04637	p.Asp324His	rs1064794810	missense variant	-	NC_000017.11:g.7673558C>G	TOPMed,gnomAD
TP53	P04637	p.Asp324His	RCV000478385	missense variant	-	NC_000017.11:g.7673558C>G	ClinVar
TP53	P04637	p.Asp324His	RCV000555965	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673558C>G	ClinVar
TP53	P04637	p.Asp324Tyr	RCV000776836	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673558C>A	ClinVar
TP53	P04637	p.Asp324Gly	rs1177881399	missense variant	-	NC_000017.11:g.7673557T>C	gnomAD
TP53	P04637	p.Asp324Asn	rs1064794810	missense variant	-	NC_000017.11:g.7673558C>T	TOPMed,gnomAD
TP53	P04637	p.Asp324Ter	RCV000583103	frameshift	-	NC_000017.11:g.7673559del	ClinVar
TP53	P04637	p.Asp324His	RCV000573045	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673558C>G	ClinVar
TP53	P04637	p.Asp324Tyr	VAR_045516	Missense	-	-	UniProt
TP53	P04637	p.Asp324Ser	VAR_045875	Missense	-	-	UniProt
TP53	P04637	p.Asp324Glu	VAR_045515	Missense	-	-	UniProt
TP53	P04637	p.Gly325Val	rs121912659	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673554C>A	UniProt,dbSNP
TP53	P04637	p.Gly325Val	VAR_006039	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673554C>A	UniProt
TP53	P04637	p.Gly325Glu	RCV000566077	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673554C>T	ClinVar
TP53	P04637	p.Gly325Val	RCV000013165	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000017.11:g.7673554C>A	ClinVar
TP53	P04637	p.Gly325Val	RCV000013166	missense variant	Familial colorectal cancer (CRC)	NC_000017.11:g.7673554C>A	ClinVar
TP53	P04637	p.Gly325Arg	RCV000568856	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673555C>T	ClinVar
TP53	P04637	p.Gly325Glu	rs121912659	missense variant	-	NC_000017.11:g.7673554C>T	gnomAD
TP53	P04637	p.Gly325Val	rs121912659	missense variant	-	NC_000017.11:g.7673554C>A	gnomAD
TP53	P04637	p.Gly325Ter	RCV000195434	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673555C>A	ClinVar
TP53	P04637	p.Gly325Ala	VAR_045517	Missense	-	-	UniProt
TP53	P04637	p.Gly325Glu	VAR_045518	Missense	-	-	UniProt
TP53	P04637	p.Glu326Ter	RCV000785490	nonsense	Ovarian Neoplasms	NC_000017.11:g.7673552C>A	ClinVar
TP53	P04637	p.Glu326Ter	rs876659384	stop gained	-	NC_000017.11:g.7673552C>A	-
TP53	P04637	p.Glu326Asp	rs1000256867	missense variant	-	NC_000017.11:g.7673550T>A	gnomAD
TP53	P04637	p.Glu326Asp	rs1000256867	missense variant	-	NC_000017.11:g.7673550T>G	gnomAD
TP53	P04637	p.Glu326Ter	RCV000218971	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7673552C>A	ClinVar
TP53	P04637	p.Glu326Ter	RCV000633385	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673552C>A	ClinVar
TP53	P04637	p.Glu326Gly	VAR_045519	Missense	-	-	UniProt
TP53	P04637	p.Tyr327Ter	RCV000235861	nonsense	-	NC_000017.11:g.7673547A>C	ClinVar
TP53	P04637	p.Tyr327Ter	rs879254077	stop gained	-	NC_000017.11:g.7673547A>C	-
TP53	P04637	p.Tyr327Ser	VAR_045521	Missense	-	-	UniProt
TP53	P04637	p.Tyr327His	VAR_045520	Missense	-	-	UniProt
TP53	P04637	p.Phe328Ser	VAR_045523	Missense	-	-	UniProt
TP53	P04637	p.Phe328Val	VAR_045524	Missense	-	-	UniProt
TP53	P04637	p.Phe328Leu	VAR_045522	Missense	-	-	UniProt
TP53	P04637	p.Thr329Ter	RCV000286554	frameshift	-	NC_000017.11:g.7673547dup	ClinVar
TP53	P04637	p.Thr329Ile	rs969930693	missense variant	-	NC_000017.11:g.7673542G>A	gnomAD
TP53	P04637	p.Thr329Ser	VAR_045526	Missense	-	-	UniProt
TP53	P04637	p.Leu330Pro	VAR_047212	Missense	-	-	UniProt
TP53	P04637	p.Leu330His	VAR_045527	Missense	-	-	UniProt
TP53	P04637	p.Leu330Arg	VAR_045528	Missense	-	-	UniProt
TP53	P04637	p.Gln331Arg	RCV000479182	missense variant	-	NC_000017.11:g.7673536T>C	ClinVar
TP53	P04637	p.Gln331Arg	rs1064795056	missense variant	-	NC_000017.11:g.7673536T>C	UniProt,dbSNP
TP53	P04637	p.Gln331Arg	VAR_045531	missense variant	-	NC_000017.11:g.7673536T>C	UniProt
TP53	P04637	p.Gln331Arg	rs1064795056	missense variant	-	NC_000017.11:g.7673536T>C	-
TP53	P04637	p.Gln331His	rs11575996	missense variant	-	NC_000017.11:g.7673535C>A	-
TP53	P04637	p.Gln331Ter	RCV000540169	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7673535_7673538del	ClinVar
TP53	P04637	p.Gln331Pro	VAR_045530	Missense	-	-	UniProt
TP53	P04637	p.Ile332Ter	RCV000785530	frameshift	Ovarian Neoplasms	NC_000017.11:g.7670712_7670713del	ClinVar
TP53	P04637	p.Ile332Met	RCV000554410	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670713G>C	ClinVar
TP53	P04637	p.Ile332Met	rs1555524470	missense variant	-	NC_000017.11:g.7670713G>C	-
TP53	P04637	p.Ile332Val	VAR_045532	Missense	-	-	UniProt
TP53	P04637	p.Arg333His	RCV000131296	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670711C>T	ClinVar
TP53	P04637	p.Arg333His	RCV000662455	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670711C>T	ClinVar
TP53	P04637	p.Arg333His	RCV000227465	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670711C>T	ClinVar
TP53	P04637	p.Arg333His	RCV000213064	missense variant	-	NC_000017.11:g.7670711C>T	ClinVar
TP53	P04637	p.Arg333Cys	RCV000164055	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670712G>A	ClinVar
TP53	P04637	p.Arg333Cys	RCV000197833	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670712G>A	ClinVar
TP53	P04637	p.Arg333Cys	RCV000485066	missense variant	-	NC_000017.11:g.7670712G>A	ClinVar
TP53	P04637	p.Arg333His	rs573154688	missense variant	-	NC_000017.11:g.7670711C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg333Gly	rs769934890	missense variant	-	NC_000017.11:g.7670712G>C	ExAC,gnomAD
TP53	P04637	p.Arg333Cys	rs769934890	missense variant	-	NC_000017.11:g.7670712G>A	ExAC,gnomAD
TP53	P04637	p.Arg333Cys	RCV000780790	missense variant	-	NC_000017.11:g.7670712G>A	ClinVar
TP53	P04637	p.Gly334Trp	rs730882028	missense variant	-	NC_000017.11:g.7670709C>A	ExAC,TOPMed
TP53	P04637	p.Gly334Arg	RCV000588363	missense variant	-	NC_000017.11:g.7670709C>G	ClinVar
TP53	P04637	p.Gly334Arg	rs730882028	missense variant	-	NC_000017.11:g.7670709C>T	ExAC,TOPMed
TP53	P04637	p.Gly334Trp	RCV000492343	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670709C>A	ClinVar
TP53	P04637	p.Gly334Arg	RCV000663214	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670709C>G	ClinVar
TP53	P04637	p.Gly334Arg	RCV000165615	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670709C>T	ClinVar
TP53	P04637	p.Gly334Arg	RCV000468644	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670709C>G	ClinVar
TP53	P04637	p.Gly334Arg	RCV000161073	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670709C>G	ClinVar
TP53	P04637	p.Gly334Arg	rs730882028	missense variant	-	NC_000017.11:g.7670709C>G	ExAC,TOPMed
TP53	P04637	p.Gly334Glu	rs1286563734	missense variant	-	NC_000017.11:g.7670708C>T	gnomAD
TP53	P04637	p.Gly334Val	VAR_006040	Missense	-	-	UniProt
TP53	P04637	p.Arg335Cys	RCV000538993	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670706G>A	ClinVar
TP53	P04637	p.Arg335His	RCV000563037	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670705C>T	ClinVar
TP53	P04637	p.Arg335His	RCV000803182	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670705C>T	ClinVar
TP53	P04637	p.Arg335His	rs771939956	missense variant	-	NC_000017.11:g.7670705C>T	ExAC,gnomAD
TP53	P04637	p.Arg335His	rs771939956	missense variant	-	NC_000017.11:g.7670705C>T	UniProt,dbSNP
TP53	P04637	p.Arg335His	VAR_045535	missense variant	-	NC_000017.11:g.7670705C>T	UniProt
TP53	P04637	p.Arg335Cys	rs375444154	missense variant	-	NC_000017.11:g.7670706G>A	ESP,TOPMed
TP53	P04637	p.Arg335Cys	RCV000129547	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670706G>A	ClinVar
TP53	P04637	p.Arg335Cys	RCV000213066	missense variant	-	NC_000017.11:g.7670706G>A	ClinVar
TP53	P04637	p.Arg335Leu	VAR_045536	Missense	-	-	UniProt
TP53	P04637	p.Arg335Gly	VAR_045534	Missense	-	-	UniProt
TP53	P04637	p.Arg337Pro	rs121912664	missense variant	-	NC_000017.11:g.7670699C>G	UniProt,dbSNP
TP53	P04637	p.Arg337Pro	VAR_045538	missense variant	-	NC_000017.11:g.7670699C>G	UniProt
TP53	P04637	p.Arg337His	rs121912664	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670699C>T	UniProt,dbSNP
TP53	P04637	p.Arg337His	VAR_035016	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670699C>T	UniProt
TP53	P04637	p.Arg337His	rs121912664	missense variant	-	NC_000017.11:g.7670699C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg337Leu	rs121912664	missense variant	-	NC_000017.11:g.7670699C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg337His	RCV000413754	missense variant	Neoplasm of the breast	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337His	RCV000197240	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337His	RCV000576817	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337Leu	RCV000785297	missense variant	Ovarian Neoplasms	NC_000017.11:g.7670699C>A	ClinVar
TP53	P04637	p.Arg337Pro	RCV000154527	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670699C>G	ClinVar
TP53	P04637	p.Arg337His	RCV000013178	missense variant	Adrenocortical carcinoma, pediatric	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337Gly	RCV000226515	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670700G>C	ClinVar
TP53	P04637	p.Arg337His	RCV000481814	missense variant	-	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337Leu	RCV000132259	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670699C>A	ClinVar
TP53	P04637	p.Arg337His	RCV000128923	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670699C>T	ClinVar
TP53	P04637	p.Arg337Cys	RCV000785479	missense variant	Ovarian Neoplasms	NC_000017.11:g.7670700G>A	ClinVar
TP53	P04637	p.Arg337Leu	rs121912664	missense variant	-	NC_000017.11:g.7670699C>A	UniProt,dbSNP
TP53	P04637	p.Arg337Leu	VAR_045537	missense variant	-	NC_000017.11:g.7670699C>A	UniProt
TP53	P04637	p.Arg337Pro	rs121912664	missense variant	-	NC_000017.11:g.7670699C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Arg337Gly	rs587782529	missense variant	-	NC_000017.11:g.7670700G>C	ExAC,gnomAD
TP53	P04637	p.Arg337Cys	rs587782529	missense variant	-	NC_000017.11:g.7670700G>A	ExAC,gnomAD
TP53	P04637	p.Arg337Cys	rs587782529	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670700G>A	UniProt,dbSNP
TP53	P04637	p.Arg337Cys	VAR_006041	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670700G>A	UniProt
TP53	P04637	p.Arg337Ter	RCV000492353	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670698_7670699GC[1]	ClinVar
TP53	P04637	p.Phe338Ser	RCV000478445	missense variant	-	NC_000017.11:g.7670696A>G	ClinVar
TP53	P04637	p.Phe338Leu	RCV000576115	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670695G>C	ClinVar
TP53	P04637	p.Phe338Ser	rs1064796401	missense variant	-	NC_000017.11:g.7670696A>G	-
TP53	P04637	p.Phe338Leu	rs150293825	missense variant	-	NC_000017.11:g.7670695G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Phe338Leu	rs150293825	missense variant	-	NC_000017.11:g.7670695G>C	UniProt,dbSNP
TP53	P04637	p.Phe338Leu	VAR_045540	missense variant	-	NC_000017.11:g.7670695G>C	UniProt
TP53	P04637	p.Phe338Cys	RCV000772899	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670696A>C	ClinVar
TP53	P04637	p.Phe338Ile	VAR_045539	Missense	-	-	UniProt
TP53	P04637	p.Glu339Ter	RCV000505616	nonsense	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670694C>A	ClinVar
TP53	P04637	p.Glu339Gln	RCV000697643	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670694C>G	ClinVar
TP53	P04637	p.Glu339Gln	RCV000213068	missense variant	-	NC_000017.11:g.7670694C>G	ClinVar
TP53	P04637	p.Glu339Ter	RCV000689964	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670694C>A	ClinVar
TP53	P04637	p.Glu339Gln	rs17882252	missense variant	-	NC_000017.11:g.7670694C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu339Val	rs1237829645	missense variant	-	NC_000017.11:g.7670693T>A	gnomAD
TP53	P04637	p.Glu339Ter	RCV000785266	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670694_7670695insA	ClinVar
TP53	P04637	p.Glu339Gln	RCV000130594	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670694C>G	ClinVar
TP53	P04637	p.Glu339Ter	rs17882252	stop gained	-	NC_000017.11:g.7670694C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu339Lys	rs17882252	missense variant	-	NC_000017.11:g.7670694C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Glu339Lys	RCV000254694	missense variant	-	NC_000017.11:g.7670694C>T	ClinVar
TP53	P04637	p.Met340Ile	rs1463722976	missense variant	-	NC_000017.11:g.7670689C>A	TOPMed
TP53	P04637	p.Met340Ter	RCV000492284	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670691del	ClinVar
TP53	P04637	p.Phe341Cys	VAR_045542	Missense	-	-	UniProt
TP53	P04637	p.Arg342Ter	rs730882029	stop gained	-	NC_000017.11:g.7670685G>A	-
TP53	P04637	p.Arg342Gln	RCV000213668	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670684C>T	ClinVar
TP53	P04637	p.Arg342Ter	RCV000492610	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670686del	ClinVar
TP53	P04637	p.Arg342Ter	RCV000161074	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670685G>A	ClinVar
TP53	P04637	p.Arg342Ter	RCV000213069	nonsense	-	NC_000017.11:g.7670685G>A	ClinVar
TP53	P04637	p.Arg342Pro	rs375338359	missense variant	-	NC_000017.11:g.7670684C>G	ESP,ExAC,gnomAD
TP53	P04637	p.Arg342Gln	RCV000688863	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670684C>T	ClinVar
TP53	P04637	p.Arg342Gln	RCV000478259	missense variant	-	NC_000017.11:g.7670684C>T	ClinVar
TP53	P04637	p.Arg342Ter	RCV000785461	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670676_7670683del	ClinVar
TP53	P04637	p.Arg342Ter	RCV000785301	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670685G>A	ClinVar
TP53	P04637	p.Arg342Gln	rs375338359	missense variant	-	NC_000017.11:g.7670684C>T	ESP,ExAC,gnomAD
TP53	P04637	p.Arg342Pro	RCV000198319	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670684C>G	ClinVar
TP53	P04637	p.Arg342Ter	RCV000549233	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670685G>A	ClinVar
TP53	P04637	p.Arg342Ter	RCV000785302	frameshift	Ovarian Neoplasms	NC_000017.11:g.7670686del	ClinVar
TP53	P04637	p.Arg342Leu	VAR_045543	Missense	-	-	UniProt
TP53	P04637	p.Glu343Gln	rs375573770	missense variant	-	NC_000017.11:g.7670682C>G	ESP
TP53	P04637	p.Glu343Gly	VAR_045545	Missense	-	-	UniProt
TP53	P04637	p.Leu344Pro	RCV000013174	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670678A>G	ClinVar
TP53	P04637	p.Leu344Pro	rs121912662	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670678A>G	UniProt,dbSNP
TP53	P04637	p.Leu344Pro	VAR_045546	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670678A>G	UniProt
TP53	P04637	p.Leu344Pro	rs121912662	missense variant	Li-fraumeni syndrome 1 (lfs1)	NC_000017.11:g.7670678A>G	-
TP53	P04637	p.Leu344Arg	VAR_045547	Missense	-	-	UniProt
TP53	P04637	p.Glu346Asp	rs1555524406	missense variant	-	NC_000017.11:g.7670671C>G	-
TP53	P04637	p.Glu346Ter	RCV000785295	frameshift	Ovarian Neoplasms	NC_000017.11:g.7670673del	ClinVar
TP53	P04637	p.Glu346Asp	RCV000562934	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670671C>G	ClinVar
TP53	P04637	p.Glu346Ter	RCV000785313	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670673C>A	ClinVar
TP53	P04637	p.Glu346Ala	VAR_045548	Missense	-	-	UniProt
TP53	P04637	p.Ala347Val	RCV000484420	missense variant	-	NC_000017.11:g.7670669G>A	ClinVar
TP53	P04637	p.Ala347Val	RCV000567572	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670669G>A	ClinVar
TP53	P04637	p.Ala347Asp	RCV000255021	missense variant	-	NC_000017.11:g.7670669G>T	ClinVar
TP53	P04637	p.Ala347Gly	VAR_045549	Missense	-	-	UniProt
TP53	P04637	p.Ala347Thr	VAR_045550	Missense	-	-	UniProt
TP53	P04637	p.Leu348Val	rs1060501193	missense variant	-	NC_000017.11:g.7670667A>C	-
TP53	P04637	p.Leu348Val	RCV000473178	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670667A>C	ClinVar
TP53	P04637	p.Leu348Ter	RCV000699234	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670658_7670666delinsC	ClinVar
TP53	P04637	p.Leu348Phe	VAR_045551	Missense	-	-	UniProt
TP53	P04637	p.Leu348Ser	VAR_045552	Missense	-	-	UniProt
TP53	P04637	p.Glu349Ter	RCV000785303	nonsense	Ovarian Neoplasms	NC_000017.11:g.7670664C>A	ClinVar
TP53	P04637	p.Glu349Ter	RCV000424672	frameshift	-	NC_000017.11:g.7670658_7670665del	ClinVar
TP53	P04637	p.Glu349Asp	VAR_045553	Missense	-	-	UniProt
TP53	P04637	p.Leu350Ter	RCV000492513	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670660_7670661del	ClinVar
TP53	P04637	p.Leu350Phe	RCV000562474	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670661G>A	ClinVar
TP53	P04637	p.Leu350Phe	rs768046010	missense variant	-	NC_000017.11:g.7670661G>A	ExAC,gnomAD
TP53	P04637	p.Leu350Val	rs768046010	missense variant	-	NC_000017.11:g.7670661G>C	ExAC,gnomAD
TP53	P04637	p.Lys351Glu	RCV000131779	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670658T>C	ClinVar
TP53	P04637	p.Lys351Arg	RCV000552899	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670657T>C	ClinVar
TP53	P04637	p.Lys351Glu	rs141402957	missense variant	-	NC_000017.11:g.7670658T>C	-
TP53	P04637	p.Lys351Arg	rs1555524396	missense variant	-	NC_000017.11:g.7670657T>C	-
TP53	P04637	p.Asp352Tyr	rs1555524394	missense variant	-	NC_000017.11:g.7670655C>A	-
TP53	P04637	p.Asp352Tyr	RCV000574074	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670655C>A	ClinVar
TP53	P04637	p.Asp352His	VAR_045554	Missense	-	-	UniProt
TP53	P04637	p.Ala353Thr	VAR_045555	Missense	-	-	UniProt
TP53	P04637	p.Gln354Lys	rs755394212	missense variant	-	NC_000017.11:g.7670649G>T	UniProt,dbSNP
TP53	P04637	p.Gln354Lys	VAR_045557	missense variant	-	NC_000017.11:g.7670649G>T	UniProt
TP53	P04637	p.Gln354Lys	RCV000663226	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7670649G>T	ClinVar
TP53	P04637	p.Gln354Lys	RCV000626710	missense variant	Neoplasm of the colon	NC_000017.11:g.7670649G>T	ClinVar
TP53	P04637	p.Gln354Lys	RCV000469791	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670649G>T	ClinVar
TP53	P04637	p.Gln354Lys	RCV000222255	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670649G>T	ClinVar
TP53	P04637	p.Gln354Ter	RCV000531178	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670649G>A	ClinVar
TP53	P04637	p.Gln354Arg	rs752142489	missense variant	-	NC_000017.11:g.7670648T>C	ExAC,gnomAD
TP53	P04637	p.Gln354Ter	rs755394212	stop gained	-	NC_000017.11:g.7670649G>A	ExAC,gnomAD
TP53	P04637	p.Gln354Lys	rs755394212	missense variant	-	NC_000017.11:g.7670649G>T	ExAC,gnomAD
TP53	P04637	p.Gln354Arg	RCV000774782	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670648T>C	ClinVar
TP53	P04637	p.Gln354Glu	VAR_045556	Missense	-	-	UniProt
TP53	P04637	p.Ala355Thr	rs1157427821	missense variant	-	NC_000017.11:g.7670646C>T	gnomAD
TP53	P04637	p.Ala355Val	RCV000633335	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670645G>A	ClinVar
TP53	P04637	p.Ala355Val	rs1555524382	missense variant	-	NC_000017.11:g.7670645G>A	-
TP53	P04637	p.Gly356Arg	RCV000781911	missense variant	-	NC_000017.11:g.7670643C>G	ClinVar
TP53	P04637	p.Gly356Arg	RCV000213405	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670643C>G	ClinVar
TP53	P04637	p.Gly356Arg	RCV000471717	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670643C>G	ClinVar
TP53	P04637	p.Gly356Arg	rs766786605	missense variant	-	NC_000017.11:g.7670643C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly356Arg	rs766786605	missense variant	-	NC_000017.11:g.7670643C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly356Arg	RCV000481680	missense variant	-	NC_000017.11:g.7670643C>G	ClinVar
TP53	P04637	p.Gly356Ala	VAR_045558	Missense	-	-	UniProt
TP53	P04637	p.Gly356Trp	VAR_045559	Missense	-	-	UniProt
TP53	P04637	p.Lys357Glu	RCV000709400	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670640T>C	ClinVar
TP53	P04637	p.Lys357Arg	rs763426446	missense variant	-	NC_000017.11:g.7670639T>C	ExAC,gnomAD
TP53	P04637	p.Glu358Val	RCV000249541	missense variant	-	NC_000017.11:g.7670636T>A	ClinVar
TP53	P04637	p.Glu358Lys	RCV000130938	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670637C>T	ClinVar
TP53	P04637	p.Glu358Lys	rs587782237	missense variant	-	NC_000017.11:g.7670637C>T	UniProt,dbSNP
TP53	P04637	p.Glu358Lys	VAR_045561	missense variant	-	NC_000017.11:g.7670637C>T	UniProt
TP53	P04637	p.Glu358Lys	rs587782237	missense variant	-	NC_000017.11:g.7670637C>T	-
TP53	P04637	p.Glu358Val	rs773553186	missense variant	-	NC_000017.11:g.7670636T>A	ExAC,gnomAD
TP53	P04637	p.Glu358Asp	VAR_045560	Missense	-	-	UniProt
TP53	P04637	p.Pro359Leu	rs1483922249	missense variant	-	NC_000017.11:g.7670633G>A	gnomAD
TP53	P04637	p.Gly360Trp	RCV000569528	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670631C>A	ClinVar
TP53	P04637	p.Gly360Arg	RCV000166545	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670631C>T	ClinVar
TP53	P04637	p.Gly360Val	rs35993958	missense variant	-	NC_000017.11:g.7670630C>A	UniProt,dbSNP
TP53	P04637	p.Gly360Val	VAR_045563	missense variant	-	NC_000017.11:g.7670630C>A	UniProt
TP53	P04637	p.Gly360Ala	rs35993958	missense variant	-	NC_000017.11:g.7670630C>G	UniProt,dbSNP
TP53	P04637	p.Gly360Ala	VAR_045562	missense variant	-	NC_000017.11:g.7670630C>G	UniProt
TP53	P04637	p.Gly360Arg	rs786203298	missense variant	-	NC_000017.11:g.7670631C>T	TOPMed,gnomAD
TP53	P04637	p.Gly360Val	RCV000195550	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670630C>A	ClinVar
TP53	P04637	p.Gly360Glu	RCV000541338	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670630C>T	ClinVar
TP53	P04637	p.Gly360Ala	RCV000130776	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670630C>G	ClinVar
TP53	P04637	p.Gly360Ala	RCV000254695	missense variant	-	NC_000017.11:g.7670630C>G	ClinVar
TP53	P04637	p.Gly360Ala	rs35993958	missense variant	-	NC_000017.11:g.7670630C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly360Trp	rs786203298	missense variant	-	NC_000017.11:g.7670631C>A	TOPMed,gnomAD
TP53	P04637	p.Gly360Glu	rs35993958	missense variant	-	NC_000017.11:g.7670630C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly360Val	rs35993958	missense variant	-	NC_000017.11:g.7670630C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly360Glu	RCV000213880	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670630C>T	ClinVar
TP53	P04637	p.Gly361Arg	RCV000633398	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670628C>G	ClinVar
TP53	P04637	p.Gly361Glu	RCV000581885	missense variant	-	NC_000017.11:g.7670627C>T	ClinVar
TP53	P04637	p.Gly361Glu	RCV000129812	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670627C>T	ClinVar
TP53	P04637	p.Gly361Glu	rs587781663	missense variant	-	NC_000017.11:g.7670627C>T	TOPMed
TP53	P04637	p.Gly361Arg	rs1555524361	missense variant	-	NC_000017.11:g.7670628C>G	-
TP53	P04637	p.Gly361Arg	RCV000571168	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670628C>G	ClinVar
TP53	P04637	p.Ser362Ile	rs768803947	missense variant	-	NC_000017.11:g.7670624C>A	ExAC,gnomAD
TP53	P04637	p.Ser362Cys	RCV000552096	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670625T>A	ClinVar
TP53	P04637	p.Ser362Asn	RCV000530397	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670624C>T	ClinVar
TP53	P04637	p.Ser362Ile	RCV000572520	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670624C>A	ClinVar
TP53	P04637	p.Ser362Ter	RCV000714961	frameshift	BONE MARROW FAILURE SYNDROME 5 (BMFS5)	NC_000017.11:g.7670631del	ClinVar
TP53	P04637	p.Ser362Ter	RCV000677306	frameshift	Diamond-Blackfan anemia (DBA)	NC_000017.11:g.7670632del	ClinVar
TP53	P04637	p.Ser362Cys	rs1287887419	missense variant	-	NC_000017.11:g.7670625T>A	gnomAD
TP53	P04637	p.Ser362Asn	rs768803947	missense variant	-	NC_000017.11:g.7670624C>T	ExAC,gnomAD
TP53	P04637	p.Ser362Ter	RCV000714962	frameshift	BONE MARROW FAILURE SYNDROME 5 (BMFS5)	NC_000017.11:g.7670632del	ClinVar
TP53	P04637	p.Ser362Ter	RCV000677307	frameshift	Diamond-Blackfan anemia (DBA)	NC_000017.11:g.7670631del	ClinVar
TP53	P04637	p.Arg363Lys	RCV000223158	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670621C>T	ClinVar
TP53	P04637	p.Arg363Lys	RCV000419155	missense variant	-	NC_000017.11:g.7670621C>T	ClinVar
TP53	P04637	p.Arg363Lys	rs876660285	missense variant	-	NC_000017.11:g.7670621C>T	-
TP53	P04637	p.Arg363Lys	rs876660285	missense variant	-	NC_000017.11:g.7670621C>T	UniProt,dbSNP
TP53	P04637	p.Arg363Lys	VAR_045564	missense variant	-	NC_000017.11:g.7670621C>T	UniProt
TP53	P04637	p.Arg363Gly	RCV000483595	missense variant	-	NC_000017.11:g.7670622T>C	ClinVar
TP53	P04637	p.Arg363Gly	rs745751553	missense variant	-	NC_000017.11:g.7670622T>C	ExAC,gnomAD
TP53	P04637	p.Arg363Gly	RCV000168038	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670622T>C	ClinVar
TP53	P04637	p.Ala364Val	RCV000689466	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670618G>A	ClinVar
TP53	P04637	p.Ala364Thr	VAR_045566	Missense	-	-	UniProt
TP53	P04637	p.Ala364Pro	VAR_045565	Missense	-	-	UniProt
TP53	P04637	p.Ala364Val	VAR_045567	Missense	-	-	UniProt
TP53	P04637	p.His365Tyr	RCV000129635	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670616G>A	ClinVar
TP53	P04637	p.His365Tyr	RCV000701624	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670616G>A	ClinVar
TP53	P04637	p.His365Tyr	rs267605075	missense variant	-	NC_000017.11:g.7670616G>A	ExAC,gnomAD
TP53	P04637	p.His365Arg	VAR_047215	Missense	-	-	UniProt
TP53	P04637	p.Ser366Ala	RCV000122179	missense variant	-	NC_000017.11:g.7670613A>C	ClinVar
TP53	P04637	p.Ser366Pro	rs17881470	missense variant	-	NC_000017.11:g.7670613A>G	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ser366Ala	rs17881470	missense variant	-	NC_000017.11:g.7670613A>C	1000Genomes,ExAC,TOPMed,gnomAD
TP53	P04637	p.Ser366Ala	RCV000197399	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670613A>C	ClinVar
TP53	P04637	p.Ser366Ala	RCV000588647	missense variant	-	NC_000017.11:g.7670613A>C	ClinVar
TP53	P04637	p.Ser366Pro	RCV000633357	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7670613A>G	ClinVar
TP53	P04637	p.Ser367Gly	RCV000218678	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7670610T>C	ClinVar
TP53	P04637	p.Ser367Gly	rs876659459	missense variant	-	NC_000017.11:g.7670610T>C	-
TP53	P04637	p.Ser367Asn	rs749150541	missense variant	-	NC_000017.11:g.7670609C>T	ExAC,gnomAD
TP53	P04637	p.His368Tyr	RCV000168367	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669689G>A	ClinVar
TP53	P04637	p.His368Gln	rs1289241865	missense variant	-	NC_000017.11:g.7669687G>C	gnomAD
TP53	P04637	p.His368Gln	rs1289241865	missense variant	-	NC_000017.11:g.7669687G>T	gnomAD
TP53	P04637	p.His368Gln	RCV000575539	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669687G>C	ClinVar
TP53	P04637	p.His368Gln	RCV000798387	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669687G>C	ClinVar
TP53	P04637	p.His368Tyr	rs786204227	missense variant	-	NC_000017.11:g.7669689G>A	-
TP53	P04637	p.His368Tyr	RCV000222357	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669689G>A	ClinVar
TP53	P04637	p.Lys370Gln	VAR_045569	Missense	-	-	UniProt
TP53	P04637	p.Lys372Thr	rs876658876	missense variant	-	NC_000017.11:g.7669676T>G	-
TP53	P04637	p.Lys372Thr	RCV000507724	missense variant	-	NC_000017.11:g.7669676T>G	ClinVar
TP53	P04637	p.Lys372Arg	rs876658876	missense variant	-	NC_000017.11:g.7669676T>C	-
TP53	P04637	p.Lys372Arg	RCV000217059	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669676T>C	ClinVar
TP53	P04637	p.Lys373Arg	RCV000771476	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669673T>C	ClinVar
TP53	P04637	p.Lys373Arg	RCV000700219	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669673T>C	ClinVar
TP53	P04637	p.Gly374Cys	rs587781858	missense variant	-	NC_000017.11:g.7669671C>A	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly374Arg	RCV000217404	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669671C>G	ClinVar
TP53	P04637	p.Gly374Ter	RCV000233345	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669672del	ClinVar
TP53	P04637	p.Gly374Arg	rs587781858	missense variant	-	NC_000017.11:g.7669671C>G	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gly374Ser	RCV000130166	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669671C>T	ClinVar
TP53	P04637	p.Gly374Ser	rs587781858	missense variant	-	NC_000017.11:g.7669671C>T	ExAC,TOPMed,gnomAD
TP53	P04637	p.Gln375Ter	RCV000161058	frameshift	-	NC_000017.11:g.7669666del	ClinVar
TP53	P04637	p.Gln375Ter	RCV000563669	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669668G>A	ClinVar
TP53	P04637	p.Gln375Ter	rs1555524156	stop gained	-	NC_000017.11:g.7669668G>A	-
TP53	P04637	p.Gln375Ter	RCV000702325	nonsense	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669668G>A	ClinVar
TP53	P04637	p.Ser376Phe	RCV000584249	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669664G>A	ClinVar
TP53	P04637	p.Ser376Phe	rs1555524151	missense variant	-	NC_000017.11:g.7669664G>A	-
TP53	P04637	p.Ser376Thr	VAR_045571	Missense	-	-	UniProt
TP53	P04637	p.Ser376Ala	VAR_045570	Missense	-	-	UniProt
TP53	P04637	p.Thr377Ser	rs774269719	missense variant	-	NC_000017.11:g.7669662T>A	ExAC,gnomAD
TP53	P04637	p.Thr377Pro	rs774269719	missense variant	-	NC_000017.11:g.7669662T>G	ExAC,gnomAD
TP53	P04637	p.Ser378Cys	rs1555524130	missense variant	-	NC_000017.11:g.7669658G>C	-
TP53	P04637	p.Ser378Pro	rs80184930	missense variant	-	NC_000017.11:g.7669659A>G	ExAC,gnomAD
TP53	P04637	p.Ser378Cys	RCV000562179	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669658G>C	ClinVar
TP53	P04637	p.Arg379His	RCV000410457	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7669655C>T	ClinVar
TP53	P04637	p.Arg379Leu	RCV000199273	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669655C>A	ClinVar
TP53	P04637	p.Arg379Ser	RCV000166408	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669656G>T	ClinVar
TP53	P04637	p.Arg379Ser	RCV000236607	missense variant	-	NC_000017.11:g.7669656G>T	ClinVar
TP53	P04637	p.Arg379Ser	RCV000795303	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669656G>T	ClinVar
TP53	P04637	p.Arg379Ser	RCV000412389	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7669656G>T	ClinVar
TP53	P04637	p.Arg379His	RCV000581851	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669655C>T	ClinVar
TP53	P04637	p.Arg379Leu	RCV000219990	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669655C>A	ClinVar
TP53	P04637	p.Arg379His	RCV000696782	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669655C>T	ClinVar
TP53	P04637	p.Arg379His	RCV000235637	missense variant	-	NC_000017.11:g.7669655C>T	ClinVar
TP53	P04637	p.Arg379Ser	rs749061599	missense variant	-	NC_000017.11:g.7669656G>T	ExAC,gnomAD
TP53	P04637	p.Arg379Cys	RCV000166233	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669656G>A	ClinVar
TP53	P04637	p.Arg379Leu	rs863224682	missense variant	-	NC_000017.11:g.7669655C>A	TOPMed,gnomAD
TP53	P04637	p.Arg379Cys	rs749061599	missense variant	-	NC_000017.11:g.7669656G>A	ExAC,gnomAD
TP53	P04637	p.Arg379His	rs863224682	missense variant	-	NC_000017.11:g.7669655C>T	TOPMed,gnomAD
TP53	P04637	p.Arg379His	rs863224682	missense variant	-	NC_000017.11:g.7669655C>T	UniProt,dbSNP
TP53	P04637	p.Arg379His	VAR_045572	missense variant	-	NC_000017.11:g.7669655C>T	UniProt
TP53	P04637	p.Arg379Cys	RCV000559034	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669656G>A	ClinVar
TP53	P04637	p.Arg379Leu	RCV000590314	missense variant	-	NC_000017.11:g.7669655C>A	ClinVar
TP53	P04637	p.His380Ter	RCV000492580	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669652del	ClinVar
TP53	P04637	p.His380Ter	RCV000537354	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669651del	ClinVar
TP53	P04637	p.Lys381Ter	RCV000759367	nonsense	-	NC_000017.11:g.7669651dup	ClinVar
TP53	P04637	p.Leu383Phe	RCV000759368	missense variant	-	NC_000017.11:g.7669644G>A	ClinVar
TP53	P04637	p.Leu383Phe	rs150842067	missense variant	-	NC_000017.11:g.7669644G>A	-
TP53	P04637	p.Met384Thr	rs1060501196	missense variant	-	NC_000017.11:g.7669640A>G	gnomAD
TP53	P04637	p.Met384Arg	rs1060501196	missense variant	-	NC_000017.11:g.7669640A>C	gnomAD
TP53	P04637	p.Met384Ter	RCV000484106	frameshift	-	NC_000017.11:g.7669638_7669640delinsC	ClinVar
TP53	P04637	p.Met384Thr	RCV000662831	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7669640A>G	ClinVar
TP53	P04637	p.Met384Arg	RCV000548129	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669640A>C	ClinVar
TP53	P04637	p.Met384Val	RCV000161040	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669641T>C	ClinVar
TP53	P04637	p.Met384Val	RCV000587685	missense variant	-	NC_000017.11:g.7669641T>C	ClinVar
TP53	P04637	p.Met384Val	rs730882009	missense variant	-	NC_000017.11:g.7669641T>C	TOPMed
TP53	P04637	p.Met384Val	RCV000213071	missense variant	-	NC_000017.11:g.7669641T>C	ClinVar
TP53	P04637	p.Met384Val	RCV000195684	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669641T>C	ClinVar
TP53	P04637	p.Met384Thr	RCV000566404	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669640A>G	ClinVar
TP53	P04637	p.Met384Thr	RCV000462881	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669640A>G	ClinVar
TP53	P04637	p.Phe385Leu	RCV000561658	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669638A>G	ClinVar
TP53	P04637	p.Phe385Leu	rs1555524094	missense variant	-	NC_000017.11:g.7669638A>G	UniProt,dbSNP
TP53	P04637	p.Phe385Leu	VAR_045573	missense variant	-	NC_000017.11:g.7669638A>G	UniProt
TP53	P04637	p.Phe385Leu	rs1555524094	missense variant	-	NC_000017.11:g.7669638A>G	-
TP53	P04637	p.Thr387Arg	rs927888647	missense variant	-	NC_000017.11:g.7669631G>C	TOPMed,gnomAD
TP53	P04637	p.Thr387Arg	RCV000569933	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669631G>C	ClinVar
TP53	P04637	p.Glu388Ala	rs587781736	missense variant	-	NC_000017.11:g.7669628T>G	-
TP53	P04637	p.Glu388Ala	RCV000226900	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669628T>G	ClinVar
TP53	P04637	p.Glu388Ala	RCV000129934	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669628T>G	ClinVar
TP53	P04637	p.Glu388Ala	RCV000236435	missense variant	-	NC_000017.11:g.7669628T>G	ClinVar
TP53	P04637	p.Gly389Trp	RCV000144667	missense variant	Li-Fraumeni syndrome 1 (LFS)	NC_000017.11:g.7669626C>A	ClinVar
TP53	P04637	p.Gly389Arg	RCV000558251	missense variant	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669626C>T	ClinVar
TP53	P04637	p.Gly389Arg	rs587783064	missense variant	-	NC_000017.11:g.7669626C>T	gnomAD
TP53	P04637	p.Gly389Trp	rs587783064	missense variant	-	NC_000017.11:g.7669626C>A	UniProt,dbSNP
TP53	P04637	p.Gly389Trp	VAR_045574	missense variant	-	NC_000017.11:g.7669626C>A	UniProt
TP53	P04637	p.Gly389Trp	rs587783064	missense variant	-	NC_000017.11:g.7669626C>A	gnomAD
TP53	P04637	p.Asp391Glu	RCV000773751	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669618G>C	ClinVar
TP53	P04637	p.Ser392Ter	rs769664911	stop gained	-	NC_000017.11:g.7669616G>T	ExAC,gnomAD
TP53	P04637	p.Ser392Leu	VAR_045575	Missense	-	-	UniProt
TP53	P04637	p.Asp393Asn	rs1192921623	missense variant	-	NC_000017.11:g.7669614C>T	TOPMed,gnomAD
TP53	P04637	p.Asp393Asn	RCV000584379	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669614C>T	ClinVar
TP53	P04637	p.Asp393Ter	RCV000536567	frameshift	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669614del	ClinVar
TP53	P04637	p.Asp393Tyr	rs1192921623	missense variant	-	NC_000017.11:g.7669614C>A	TOPMed,gnomAD
TP53	P04637	p.Ter394Cys	rs1555524074	stop lost	-	NC_000017.11:g.7669609T>A	-
TP53	P04637	p.Ter394Leu	RCV000492658	stop lost	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669612dup	ClinVar
TP53	P04637	p.Ter394Gly	rs1555524079	stop lost	-	NC_000017.11:g.7669611A>C	-
TP53	P04637	p.Ter394Gly	RCV000573419	stop lost	Hereditary cancer-predisposing syndrome	NC_000017.11:g.7669611A>C	ClinVar
TP53	P04637	p.Ter394Cys	RCV000551312	stop lost	Li-Fraumeni syndrome (LFS)	NC_000017.11:g.7669609T>A	ClinVar
CYP1A1	P04798	p.Leu2Arg	rs1176559692	missense variant	-	NC_000015.10:g.74723093A>C	TOPMed,gnomAD
CYP1A1	P04798	p.Ile5Asn	rs560039501	missense variant	-	NC_000015.10:g.74723084A>T	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Ile5Val	rs757606619	missense variant	-	NC_000015.10:g.74723085T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met7Val	rs777905948	missense variant	-	NC_000015.10:g.74723079T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met7Thr	rs758562697	missense variant	-	NC_000015.10:g.74723078A>G	ExAC,gnomAD
CYP1A1	P04798	p.Ser8Leu	rs148505285	missense variant	-	NC_000015.10:g.74723075G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala9Val	rs755133321	missense variant	-	NC_000015.10:g.74723072G>A	ExAC,gnomAD
CYP1A1	P04798	p.Thr10Arg	rs753812224	missense variant	-	NC_000015.10:g.74723069G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr10Met	rs753812224	missense variant	-	NC_000015.10:g.74723069G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile18Val	COSM964887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74723046T>C	NCI-TCGA Cosmic
CYP1A1	P04798	p.Phe19Leu	rs750252519	missense variant	-	NC_000015.10:g.74723041G>T	ExAC,gnomAD
CYP1A1	P04798	p.Cys20Phe	rs1164944044	missense variant	-	NC_000015.10:g.74723039C>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Cys20Phe	rs1164944044	missense variant	-	NC_000015.10:g.74723039C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Cys20Arg	rs767145702	missense variant	-	NC_000015.10:g.74723040A>G	ExAC,gnomAD
CYP1A1	P04798	p.Trp24Ter	rs145924908	stop gained	-	NC_000015.10:g.74723026C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Trp24Arg	rs774097027	missense variant	-	NC_000015.10:g.74723028A>G	ExAC,gnomAD
CYP1A1	P04798	p.Trp24Ter	rs375315082	stop gained	-	NC_000015.10:g.74723027C>T	gnomAD
CYP1A1	P04798	p.Trp24Cys	rs145924908	missense variant	-	NC_000015.10:g.74723026C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val25Ala	rs1198021323	missense variant	-	NC_000015.10:g.74723024A>G	gnomAD
CYP1A1	P04798	p.Arg27Lys	rs777119337	missense variant	-	NC_000015.10:g.74723018C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser29Pro	rs771432878	missense variant	-	NC_000015.10:g.74723013A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg30Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74723009C>A	NCI-TCGA
CYP1A1	P04798	p.Pro31Arg	rs1490549680	missense variant	-	NC_000015.10:g.74723006G>C	gnomAD
CYP1A1	P04798	p.Gln32Ter	rs1285568419	stop gained	-	NC_000015.10:g.74723004G>A	gnomAD
CYP1A1	P04798	p.Val33Ile	rs747317438	missense variant	-	NC_000015.10:g.74723001C>T	ExAC,gnomAD
CYP1A1	P04798	p.Lys35Glu	rs1303275212	missense variant	-	NC_000015.10:g.74722995T>C	TOPMed
CYP1A1	P04798	p.Gly36Asp	rs1233083776	missense variant	-	NC_000015.10:g.74722991C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Leu37Pro	rs1236573643	missense variant	-	NC_000015.10:g.74722988A>G	TOPMed
CYP1A1	P04798	p.Lys38Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722984C>A	NCI-TCGA
CYP1A1	P04798	p.Lys38Glu	COSM964886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74722986T>C	NCI-TCGA Cosmic
CYP1A1	P04798	p.Gly42Arg	rs1305551656	missense variant	-	NC_000015.10:g.74722974C>G	gnomAD
CYP1A1	P04798	p.Pro43Ser	COSM3503971	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74722971G>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Pro43Thr	rs1359392428	missense variant	-	NC_000015.10:g.74722971G>T	gnomAD
CYP1A1	P04798	p.Trp44Leu	rs1408390236	missense variant	-	NC_000015.10:g.74722967C>A	gnomAD
CYP1A1	P04798	p.Trp44Arg	rs1402106037	missense variant	-	NC_000015.10:g.74722968A>T	TOPMed,gnomAD
CYP1A1	P04798	p.Gly45Asp	rs4646422	missense variant	-	NC_000015.10:g.74722964C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly45Arg	rs755005663	missense variant	-	NC_000015.10:g.74722965C>G	ExAC,gnomAD
CYP1A1	P04798	p.Trp46Cys	rs780078658	missense variant	-	NC_000015.10:g.74722960C>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro47Ser	rs1200137212	missense variant	-	NC_000015.10:g.74722959G>A	gnomAD
CYP1A1	P04798	p.Pro47His	rs756138124	missense variant	-	NC_000015.10:g.74722958G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile49Asn	rs565370983	missense variant	-	NC_000015.10:g.74722952A>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile49Thr	rs565370983	missense variant	-	NC_000015.10:g.74722952A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly50Arg	rs767189328	missense variant	-	NC_000015.10:g.74722950C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gly50Glu	rs761719283	missense variant	-	NC_000015.10:g.74722949C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His51Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722947G>A	NCI-TCGA
CYP1A1	P04798	p.Met52Leu	rs1285714571	missense variant	-	NC_000015.10:g.74722944T>A	gnomAD
CYP1A1	P04798	p.Leu55Pro	rs1339216487	missense variant	-	NC_000015.10:g.74722934A>G	gnomAD
CYP1A1	P04798	p.Gly56Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.74722932C>A	NCI-TCGA
CYP1A1	P04798	p.Lys57Arg	rs913685889	missense variant	-	NC_000015.10:g.74722928T>C	TOPMed
CYP1A1	P04798	p.Lys57Asn	rs762383674	missense variant	-	NC_000015.10:g.74722927C>A	ExAC,gnomAD
CYP1A1	P04798	p.Pro59Gln	rs149846182	missense variant	-	NC_000015.10:g.74722922G>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Pro59Leu	rs149846182	missense variant	-	NC_000015.10:g.74722922G>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.His60Pro	rs761140013	missense variant	-	NC_000015.10:g.74722919T>G	ExAC,gnomAD
CYP1A1	P04798	p.Leu61Val	rs773817962	missense variant	-	NC_000015.10:g.74722917G>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala62Thr	rs143070677	missense variant	-	NC_000015.10:g.74722914C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala62Pro	rs143070677	missense variant	-	NC_000015.10:g.74722914C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu63Gln	rs1177040739	missense variant	-	NC_000015.10:g.74722910A>T	gnomAD
CYP1A1	P04798	p.Ser64Pro	rs1465057929	missense variant	-	NC_000015.10:g.74722908A>G	gnomAD
CYP1A1	P04798	p.Arg65Lys	rs1234721707	missense variant	-	NC_000015.10:g.74722904C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Met66Ile	rs778933231	missense variant	-	NC_000015.10:g.74722900C>T	NCI-TCGA
CYP1A1	P04798	p.Met66Ile	rs778933231	missense variant	-	NC_000015.10:g.74722900C>T	ExAC,gnomAD
CYP1A1	P04798	p.Met66Val	rs35035798	missense variant	-	NC_000015.10:g.74722902T>C	UniProt,dbSNP
CYP1A1	P04798	p.Met66Val	VAR_033817	missense variant	-	NC_000015.10:g.74722902T>C	UniProt
CYP1A1	P04798	p.Met66Val	rs35035798	missense variant	-	NC_000015.10:g.74722902T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser67Asn	rs769009780	missense variant	-	NC_000015.10:g.74722898C>T	ExAC,gnomAD
CYP1A1	P04798	p.Ser67Arg	rs749328902	missense variant	-	NC_000015.10:g.74722897G>C	ExAC,gnomAD
CYP1A1	P04798	p.Gln68Ter	rs1170746940	stop gained	-	NC_000015.10:g.74722896G>A	TOPMed
CYP1A1	P04798	p.Gln69His	rs1434738999	missense variant	-	NC_000015.10:g.74722891C>A	TOPMed
CYP1A1	P04798	p.Gln69Ter	rs572138243	stop gained	-	NC_000015.10:g.74722893G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr70Cys	rs112517897	missense variant	-	NC_000015.10:g.74722889T>C	TOPMed,gnomAD
CYP1A1	P04798	p.Asp72Glu	rs139919943	missense variant	-	NC_000015.10:g.74722882G>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp72Asn	rs376399672	missense variant	-	NC_000015.10:g.74722884C>T	ESP
CYP1A1	P04798	p.Val73Met	rs373568981	missense variant	-	NC_000015.10:g.74722881C>T	NCI-TCGA,NCI-TCGA Cosmic
CYP1A1	P04798	p.Val73Met	rs373568981	missense variant	-	NC_000015.10:g.74722881C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val73Glu	rs1270201997	missense variant	-	NC_000015.10:g.74722880A>T	gnomAD
CYP1A1	P04798	p.Gln75Arg	rs554072118	missense variant	-	NC_000015.10:g.74722874T>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln75Pro	rs554072118	missense variant	-	NC_000015.10:g.74722874T>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg77Leu	rs1450069713	missense variant	-	NC_000015.10:g.74722868C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg77Ter	rs371190271	stop gained	-	NC_000015.10:g.74722869G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg77Gln	rs1450069713	missense variant	-	NC_000015.10:g.74722868C>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Arg77Gln	rs1450069713	missense variant	-	NC_000015.10:g.74722868C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Ile78Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722864A>C	NCI-TCGA
CYP1A1	P04798	p.Ile78Thr	rs17861094	missense variant	-	NC_000015.10:g.74722865A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly79Asp	rs1337155933	missense variant	-	NC_000015.10:g.74722862C>T	gnomAD
CYP1A1	P04798	p.Ser80Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722859G>C	NCI-TCGA
CYP1A1	P04798	p.Ser80Phe	rs373246855	missense variant	-	NC_000015.10:g.74722859G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr81Ile	rs138474634	missense variant	-	NC_000015.10:g.74722856G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro82Thr	COSM4776912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74722854G>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Pro82Ser	rs537005466	missense variant	-	NC_000015.10:g.74722854G>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Val83Met	rs768956417	missense variant	-	NC_000015.10:g.74722851C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val83Met	rs768956417	missense variant	-	NC_000015.10:g.74722851C>T	NCI-TCGA
CYP1A1	P04798	p.Val84Met	rs1171054135	missense variant	-	NC_000015.10:g.74722848C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Leu86Val	rs1395693886	missense variant	-	NC_000015.10:g.74722842G>C	TOPMed
CYP1A1	P04798	p.Gly88Ser	rs77425771	missense variant	-	NC_000015.10:g.74722836C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly88Ser	rs77425771	missense variant	-	NC_000015.10:g.74722836C>T	NCI-TCGA,NCI-TCGA Cosmic
CYP1A1	P04798	p.Gly88Val	rs893613070	missense variant	-	NC_000015.10:g.74722835C>A	TOPMed
CYP1A1	P04798	p.Gly88Asp	rs893613070	missense variant	-	NC_000015.10:g.74722835C>T	TOPMed
CYP1A1	P04798	p.Leu89Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722833G>C	NCI-TCGA
CYP1A1	P04798	p.Asp90Gly	rs769983960	missense variant	-	NC_000015.10:g.74722829T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr91Pro	rs746029569	missense variant	-	NC_000015.10:g.74722827T>G	ExAC,gnomAD
CYP1A1	P04798	p.Thr91Ile	rs780925747	missense variant	-	NC_000015.10:g.74722826G>A	ExAC,gnomAD
CYP1A1	P04798	p.Arg93Trp	rs2229150	missense variant	-	NC_000015.10:g.74722821G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg93Leu	rs45528935	missense variant	-	NC_000015.10:g.74722820C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg93Gln	rs45528935	missense variant	-	NC_000015.10:g.74722820C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg93Pro	rs45528935	missense variant	-	NC_000015.10:g.74722820C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln94Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722817T>A	NCI-TCGA
CYP1A1	P04798	p.Gln94Ter	rs758238061	stop gained	-	NC_000015.10:g.74722818G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala95Val	rs373137650	missense variant	-	NC_000015.10:g.74722814G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg98Trp	rs754416936	missense variant	-	NC_000015.10:g.74722806G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg98Gln	rs368952331	missense variant	-	NC_000015.10:g.74722805C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg98Gln	rs368952331	missense variant	-	NC_000015.10:g.74722805C>T	NCI-TCGA
CYP1A1	P04798	p.Gln99His	rs774756784	missense variant	-	NC_000015.10:g.74722801C>G	ExAC,gnomAD
CYP1A1	P04798	p.Gln99His	rs774756784	missense variant	-	NC_000015.10:g.74722801C>A	ExAC,gnomAD
CYP1A1	P04798	p.Gln99Ter	rs767860316	stop gained	-	NC_000015.10:g.74722803G>A	ExAC,gnomAD
CYP1A1	P04798	p.Gly100Asp	rs764534349	missense variant	-	NC_000015.10:g.74722799C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gly100Val	rs764534349	missense variant	-	NC_000015.10:g.74722799C>A	ExAC,gnomAD
CYP1A1	P04798	p.Asp101Glu	rs1243352948	missense variant	-	NC_000015.10:g.74722795A>T	TOPMed
CYP1A1	P04798	p.Asp101Asn	rs141173079	missense variant	-	NC_000015.10:g.74722797C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe103Val	rs548096213	missense variant	-	NC_000015.10:g.74722791A>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly105Asp	rs1239041357	missense variant	-	NC_000015.10:g.74722784C>T	gnomAD
CYP1A1	P04798	p.Arg106Gln	rs770734367	missense variant	-	NC_000015.10:g.74722781C>T	ExAC,TOPMed
CYP1A1	P04798	p.Arg106Trp	rs776797048	missense variant	-	NC_000015.10:g.74722782G>A	ExAC,TOPMed
CYP1A1	P04798	p.Arg106Trp	rs776797048	missense variant	-	NC_000015.10:g.74722782G>A	NCI-TCGA,NCI-TCGA Cosmic
CYP1A1	P04798	p.Arg106Leu	rs770734367	missense variant	-	NC_000015.10:g.74722781C>A	ExAC,TOPMed
CYP1A1	P04798	p.Pro107Thr	rs372306597	missense variant	-	NC_000015.10:g.74722779G>T	ESP,TOPMed
CYP1A1	P04798	p.Asp108Asn	rs78901429	missense variant	-	NC_000015.10:g.74722776C>T	ExAC,TOPMed
CYP1A1	P04798	p.Asp108Tyr	rs78901429	missense variant	-	NC_000015.10:g.74722776C>A	ExAC,TOPMed
CYP1A1	P04798	p.Asp108Ala	rs373368945	missense variant	-	NC_000015.10:g.74722775T>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr111Ala	rs778476792	missense variant	-	NC_000015.10:g.74722767T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr113Ser	rs1367571879	missense variant	-	NC_000015.10:g.74722761T>A	gnomAD
CYP1A1	P04798	p.Leu114Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722758G>T	NCI-TCGA
CYP1A1	P04798	p.Ile115Val	rs779581749	missense variant	-	NC_000015.10:g.74722755T>C	ExAC,gnomAD
CYP1A1	P04798	p.Gly118Asp	rs755633017	missense variant	-	NC_000015.10:g.74722745C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gln119Ter	rs1161738771	stop gained	-	NC_000015.10:g.74722743G>A	gnomAD
CYP1A1	P04798	p.Ser124Gly	rs752097572	missense variant	-	NC_000015.10:g.74722728T>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro125Thr	rs1197943157	missense variant	-	NC_000015.10:g.74722725G>T	gnomAD
CYP1A1	P04798	p.Asp126Glu	rs753126837	missense variant	-	NC_000015.10:g.74722720G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp126Gly	rs763346193	missense variant	-	NC_000015.10:g.74722721T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp126Asn	rs375219443	missense variant	-	NC_000015.10:g.74722722C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp126Ala	rs763346193	missense variant	-	NC_000015.10:g.74722721T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly128Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.74722716C>A	NCI-TCGA
CYP1A1	P04798	p.Pro129Ser	rs372197865	missense variant	-	NC_000015.10:g.74722713G>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Pro129Leu	rs776759251	missense variant	-	NC_000015.10:g.74722712G>A	ExAC,gnomAD
CYP1A1	P04798	p.Val130Gly	rs1180020677	missense variant	-	NC_000015.10:g.74722709A>C	TOPMed
CYP1A1	P04798	p.Val130Leu	rs985825465	missense variant	-	NC_000015.10:g.74722710C>G	TOPMed
CYP1A1	P04798	p.Trp131Ter	rs1281267216	stop gained	-	NC_000015.10:g.74722705C>T	gnomAD
CYP1A1	P04798	p.Ala132Pro	rs35196245	missense variant	-	NC_000015.10:g.74722704C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala133Pro	rs1347414882	missense variant	-	NC_000015.10:g.74722701C>G	gnomAD
CYP1A1	P04798	p.Arg134Ser	rs1284032649	missense variant	-	NC_000015.10:g.74722698G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Arg134His	rs367709511	missense variant	-	NC_000015.10:g.74722697C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg134His	rs367709511	missense variant	-	NC_000015.10:g.74722697C>T	NCI-TCGA,NCI-TCGA Cosmic
CYP1A1	P04798	p.Arg134Cys	rs1284032649	missense variant	-	NC_000015.10:g.74722698G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg135Gln	rs768371517	missense variant	-	NC_000015.10:g.74722694C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg135Trp	rs45442501	missense variant	-	NC_000015.10:g.74722695G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg136His	rs202201538	missense variant	-	NC_000015.10:g.74722691C>T	NCI-TCGA,NCI-TCGA Cosmic
CYP1A1	P04798	p.Arg136His	rs202201538	missense variant	-	NC_000015.10:g.74722691C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg136Cys	rs141291433	missense variant	-	NC_000015.10:g.74722692G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala138Thr	rs1429298968	missense variant	-	NC_000015.10:g.74722686C>T	NCI-TCGA
CYP1A1	P04798	p.Ala138Thr	rs1429298968	missense variant	-	NC_000015.10:g.74722686C>T	gnomAD
CYP1A1	P04798	p.Ser144Arg	rs755649144	missense variant	-	NC_000015.10:g.74722668T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe145Leu	rs1281168233	missense variant	-	NC_000015.10:g.74722665A>G	TOPMed
CYP1A1	P04798	p.Ile147Thr	rs1232845213	missense variant	-	NC_000015.10:g.74722658A>G	TOPMed
CYP1A1	P04798	p.Ile147Val	rs960353942	missense variant	-	NC_000015.10:g.74722659T>C	TOPMed
CYP1A1	P04798	p.Ala148Val	rs749960160	missense variant	-	NC_000015.10:g.74722655G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser149Pro	rs1460688001	missense variant	-	NC_000015.10:g.74722653A>G	gnomAD
CYP1A1	P04798	p.Ser149Phe	rs1261043717	missense variant	-	NC_000015.10:g.74722652G>A	gnomAD
CYP1A1	P04798	p.Ser153Phe	rs1324187291	missense variant	-	NC_000015.10:g.74722640G>A	gnomAD
CYP1A1	P04798	p.Thr155Ala	rs1256600881	missense variant	-	NC_000015.10:g.74722635T>C	gnomAD
CYP1A1	P04798	p.Cys157Tyr	rs1349585864	missense variant	-	NC_000015.10:g.74722628C>T	TOPMed
CYP1A1	P04798	p.Leu159Pro	rs1193768005	missense variant	-	NC_000015.10:g.74722622A>G	TOPMed
CYP1A1	P04798	p.Glu160Lys	rs758997626	missense variant	-	NC_000015.10:g.74722620C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu161Gln	rs368890165	missense variant	-	NC_000015.10:g.74722617C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu161Gly	rs202221673	missense variant	-	NC_000015.10:g.74722616T>C	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Glu161Ala	rs202221673	missense variant	-	NC_000015.10:g.74722616T>G	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Glu161Lys	rs368890165	missense variant	-	NC_000015.10:g.74722617C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His162Arg	rs754086281	missense variant	-	NC_000015.10:g.74722613T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser164Asn	rs1251614582	missense variant	-	NC_000015.10:g.74722607C>T	TOPMed
CYP1A1	P04798	p.Lys165Asn	rs1167913201	missense variant	-	NC_000015.10:g.74722603C>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Lys165Asn	rs1167913201	missense variant	-	NC_000015.10:g.74722603C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Glu166Lys	COSM3816741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74722602C>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Ala167Gly	rs372215528	missense variant	-	NC_000015.10:g.74722598G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile171Lys	rs1170643113	missense variant	-	NC_000015.10:g.74722586A>T	gnomAD
CYP1A1	P04798	p.Ser172Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722583C>T	NCI-TCGA
CYP1A1	P04798	p.Thr173Arg	rs28399427	missense variant	-	NC_000015.10:g.74722580G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr173Met	rs28399427	missense variant	-	NC_000015.10:g.74722580G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln175Pro	COSM701192	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74722574T>G	NCI-TCGA Cosmic
CYP1A1	P04798	p.Leu177Pro	rs749108158	missense variant	-	NC_000015.10:g.74722568A>G	ExAC,gnomAD
CYP1A1	P04798	p.Met178Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722565A>G	NCI-TCGA
CYP1A1	P04798	p.Ala179Thr	rs1010294667	missense variant	-	NC_000015.10:g.74722563C>T	TOPMed
CYP1A1	P04798	p.Gly180Arg	rs775144476	missense variant	-	NC_000015.10:g.74722560C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gly180Arg	rs775144476	missense variant	-	NC_000015.10:g.74722560C>T	NCI-TCGA
CYP1A1	P04798	p.Pro181Ser	rs1368696580	missense variant	-	NC_000015.10:g.74722557G>A	TOPMed
CYP1A1	P04798	p.Asn185His	rs1440157905	missense variant	-	NC_000015.10:g.74722545T>G	TOPMed
CYP1A1	P04798	p.Asn185Lys	rs140459785	missense variant	-	NC_000015.10:g.74722543G>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn185Lys	rs140459785	missense variant	-	NC_000015.10:g.74722543G>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr189Cys	rs756867720	missense variant	-	NC_000015.10:g.74722532T>C	ExAC,gnomAD
CYP1A1	P04798	p.Val190Met	rs748723967	missense variant	-	NC_000015.10:g.74722530C>T	ExAC,gnomAD
CYP1A1	P04798	p.Val191Leu	rs1390189513	missense variant	-	NC_000015.10:g.74722527C>A	gnomAD
CYP1A1	P04798	p.Ser193Leu	COSM6077751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74722520G>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Val194Met	rs1397957205	missense variant	-	NC_000015.10:g.74722518C>T	gnomAD
CYP1A1	P04798	p.Thr195LeuProTyrArgTyrValValValSerValThr	NCI-TCGA novel	insertion	-	NC_000015.10:g.74722513_74722514insGTCACTGATACCACCACATACCTGTAGGGCAAT	NCI-TCGA
CYP1A1	P04798	p.Asn196Asp	rs151244239	missense variant	-	NC_000015.10:g.74722512T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn196Ser	rs754164711	missense variant	-	NC_000015.10:g.74722511T>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala200Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722500C>G	NCI-TCGA
CYP1A1	P04798	p.Ala200Val	rs1019779925	missense variant	-	NC_000015.10:g.74722499G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Cys202Gly	rs1271737642	missense variant	-	NC_000015.10:g.74722494A>C	TOPMed
CYP1A1	P04798	p.Gly204Val	rs142255433	missense variant	-	NC_000015.10:g.74722487C>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Gly204Asp	rs142255433	missense variant	-	NC_000015.10:g.74722487C>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Gly204Ala	rs142255433	missense variant	-	NC_000015.10:g.74722487C>G	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Gly204Cys	rs1444999283	missense variant	-	NC_000015.10:g.74722488C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg205Gln	rs199734551	missense variant	-	NC_000015.10:g.74722484C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg205Trp	rs201182659	missense variant	-	NC_000015.10:g.74722485G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg206Ser	rs200600221	missense variant	-	NC_000015.10:g.74722482G>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg206His	rs371913955	missense variant	-	NC_000015.10:g.74722481C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg206Cys	rs200600221	missense variant	-	NC_000015.10:g.74722482G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr207Cys	COSM964882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74722478T>C	NCI-TCGA Cosmic
CYP1A1	P04798	p.Tyr207Asp	rs763947897	missense variant	-	NC_000015.10:g.74722479A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His209Arg	rs957986566	missense variant	-	NC_000015.10:g.74722472T>C	gnomAD
CYP1A1	P04798	p.His209Asn	rs148803099	missense variant	-	NC_000015.10:g.74722473G>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.His209Gln	rs1225064153	missense variant	-	NC_000015.10:g.74722471G>T	gnomAD
CYP1A1	P04798	p.His211Tyr	rs775173815	missense variant	-	NC_000015.10:g.74722467G>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu213Ter	COSM3420608	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.74722461C>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Glu213Lys	rs1373798119	missense variant	-	NC_000015.10:g.74722461C>T	TOPMed
CYP1A1	P04798	p.Leu214Val	rs577523247	missense variant	-	NC_000015.10:g.74722458G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser216Cys	rs146622566	missense variant	-	NC_000015.10:g.74722452T>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser216Gly	rs146622566	missense variant	-	NC_000015.10:g.74722452T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn219Lys	rs746521944	missense variant	-	NC_000015.10:g.74722441G>T	ExAC,gnomAD
CYP1A1	P04798	p.Asn221Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722436T>C	NCI-TCGA
CYP1A1	P04798	p.Asn222Ser	rs779416051	missense variant	-	NC_000015.10:g.74722433T>C	ExAC,gnomAD
CYP1A1	P04798	p.Phe224Ser	rs1373130092	missense variant	-	NC_000015.10:g.74722427A>G	TOPMed
CYP1A1	P04798	p.Gly225Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722424C>T	NCI-TCGA
CYP1A1	P04798	p.Gly225Arg	rs373858916	missense variant	-	NC_000015.10:g.74722425C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly225Trp	rs373858916	missense variant	-	NC_000015.10:g.74722425C>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly225Arg	rs373858916	missense variant	-	NC_000015.10:g.74722425C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu226Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722420C>A	NCI-TCGA
CYP1A1	P04798	p.Glu226Ter	rs1156611786	stop gained	-	NC_000015.10:g.74722422C>A	gnomAD
CYP1A1	P04798	p.Val227Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722419C>T	NCI-TCGA
CYP1A1	P04798	p.Val228Ala	rs1229226590	missense variant	-	NC_000015.10:g.74722415A>G	TOPMed
CYP1A1	P04798	p.Val228Phe	rs1198650373	missense variant	-	NC_000015.10:g.74722416C>A	gnomAD
CYP1A1	P04798	p.Gly229Ser	rs1291794157	missense variant	-	NC_000015.10:g.74722413C>T	TOPMed
CYP1A1	P04798	p.Pro233Gln	rs767797064	missense variant	-	NC_000015.10:g.74722400G>T	ExAC,gnomAD
CYP1A1	P04798	p.Pro233Arg	rs767797064	missense variant	-	NC_000015.10:g.74722400G>C	ExAC,gnomAD
CYP1A1	P04798	p.Asp235His	rs757263296	missense variant	-	NC_000015.10:g.74722395C>G	ExAC,gnomAD
CYP1A1	P04798	p.Asp235Ala	rs751608165	missense variant	-	NC_000015.10:g.74722394T>G	ExAC,gnomAD
CYP1A1	P04798	p.Ile237Asn	rs1275539251	missense variant	-	NC_000015.10:g.74722388A>T	TOPMed
CYP1A1	P04798	p.Pro238Ser	rs61747605	missense variant	-	NC_000015.10:g.74722386G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu240Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722380G>T	NCI-TCGA
CYP1A1	P04798	p.Leu240Pro	rs1204631621	missense variant	-	NC_000015.10:g.74722379A>G	TOPMed
CYP1A1	P04798	p.Arg241His	rs1284649326	missense variant	-	NC_000015.10:g.74722376C>T	gnomAD
CYP1A1	P04798	p.Arg241Cys	rs149687459	missense variant	-	NC_000015.10:g.74722377G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg241Leu	rs1284649326	missense variant	-	NC_000015.10:g.74722376C>A	gnomAD
CYP1A1	P04798	p.Leu243Pro	rs759464355	missense variant	-	NC_000015.10:g.74722370A>G	ExAC,gnomAD
CYP1A1	P04798	p.Leu243Arg	rs759464355	missense variant	-	NC_000015.10:g.74722370A>C	ExAC,gnomAD
CYP1A1	P04798	p.Leu243Gln	rs759464355	missense variant	-	NC_000015.10:g.74722370A>T	ExAC,gnomAD
CYP1A1	P04798	p.Pro244Ala	rs1402199384	missense variant	-	NC_000015.10:g.74722368G>C	gnomAD
CYP1A1	P04798	p.Asn245Lys	rs770718854	missense variant	-	NC_000015.10:g.74722363G>C	ExAC,gnomAD
CYP1A1	P04798	p.Asn245Lys	rs770718854	missense variant	-	NC_000015.10:g.74722363G>T	ExAC,gnomAD
CYP1A1	P04798	p.Asn245Asp	rs555078861	missense variant	-	NC_000015.10:g.74722365T>C	1000Genomes,ExAC,TOPMed
CYP1A1	P04798	p.Pro246Ser	rs760213300	missense variant	-	NC_000015.10:g.74722362G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro246Ala	rs760213300	missense variant	-	NC_000015.10:g.74722362G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser247Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722359A>G	NCI-TCGA
CYP1A1	P04798	p.Leu248Pro	rs374229319	missense variant	-	NC_000015.10:g.74722355A>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn249Ser	rs771648532	missense variant	-	NC_000015.10:g.74722352T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn249Ile	rs771648532	missense variant	-	NC_000015.10:g.74722352T>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn249Lys	rs749731774	missense variant	-	NC_000015.10:g.74722351A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe251Val	rs780666450	missense variant	-	NC_000015.10:g.74722347A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys252Gln	rs1469734683	missense variant	-	NC_000015.10:g.74722344T>G	gnomAD
CYP1A1	P04798	p.Asp253Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722341C>A	NCI-TCGA
CYP1A1	P04798	p.Asn255Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722335T>C	NCI-TCGA
CYP1A1	P04798	p.Asn255Lys	rs770136721	missense variant	-	NC_000015.10:g.74722333A>T	ExAC,gnomAD
CYP1A1	P04798	p.Glu256Ter	COSM701193	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.74722332C>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Glu256Lys	rs746238922	missense variant	-	NC_000015.10:g.74722332C>T	ExAC
CYP1A1	P04798	p.Tyr259Cys	rs1249069839	missense variant	-	NC_000015.10:g.74722322T>C	gnomAD
CYP1A1	P04798	p.Tyr259His	rs1287768171	missense variant	-	NC_000015.10:g.74722323A>G	TOPMed
CYP1A1	P04798	p.Phe261Leu	rs781336696	missense variant	-	NC_000015.10:g.74722315G>T	ExAC,gnomAD
CYP1A1	P04798	p.Phe261Ile	rs1203516220	missense variant	-	NC_000015.10:g.74722317A>T	gnomAD
CYP1A1	P04798	p.Met262Ile	rs1401425776	missense variant	-	NC_000015.10:g.74722312C>T	TOPMed
CYP1A1	P04798	p.Met262Leu	rs757497550	missense variant	-	NC_000015.10:g.74722314T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met262Val	rs757497550	missense variant	-	NC_000015.10:g.74722314T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys264Asn	rs139496485	missense variant	-	NC_000015.10:g.74722306C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met265Ile	COSM701194	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74722303C>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Met265Arg	rs758554936	missense variant	-	NC_000015.10:g.74722304A>C	ExAC,gnomAD
CYP1A1	P04798	p.Met265Val	rs150514993	missense variant	-	NC_000015.10:g.74722305T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys267Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722297C>A	NCI-TCGA
CYP1A1	P04798	p.Glu268Ter	rs765333534	stop gained	-	NC_000015.10:g.74722296C>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu268Lys	rs765333534	missense variant	-	NC_000015.10:g.74722296C>T	ExAC,gnomAD
CYP1A1	P04798	p.His269Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722291G>T	NCI-TCGA
CYP1A1	P04798	p.His269Asn	rs759345870	missense variant	-	NC_000015.10:g.74722293G>T	ExAC,gnomAD
CYP1A1	P04798	p.Lys271Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74722286T>G	NCI-TCGA
CYP1A1	P04798	p.Phe273Leu	rs1286606165	missense variant	-	NC_000015.10:g.74722279A>C	gnomAD
CYP1A1	P04798	p.Lys275Glu	rs766089505	missense variant	-	NC_000015.10:g.74722275T>C	ExAC,gnomAD
CYP1A1	P04798	p.Arg279Gly	rs34260157	missense variant	-	NC_000015.10:g.74721708G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg279Gln	rs766251992	missense variant	-	NC_000015.10:g.74721707C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg279Trp	rs34260157	missense variant	-	NC_000015.10:g.74721708G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile281Asn	COSM6077752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74721701A>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Ile281Val	rs750037230	missense variant	-	NC_000015.10:g.74721702T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp283Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74721696C>A	NCI-TCGA
CYP1A1	P04798	p.Asp283Glu	COSM4831608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74721694G>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Asp283Asn	rs1160841995	missense variant	-	NC_000015.10:g.74721696C>T	gnomAD
CYP1A1	P04798	p.Ser284Gly	rs1230613013	missense variant	-	NC_000015.10:g.74721693T>C	gnomAD
CYP1A1	P04798	p.Ser284Asn	rs755815189	missense variant	-	NC_000015.10:g.74721692C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu285Pro	rs761173802	missense variant	-	NC_000015.10:g.74721689A>G	ExAC
CYP1A1	P04798	p.Ile286Thr	rs4987133	missense variant	-	NC_000015.10:g.74721686A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln290Ter	rs767529575	stop gained	-	NC_000015.10:g.74721675G>A	gnomAD
CYP1A1	P04798	p.Glu291Ter	rs765698121	stop gained	-	NC_000015.10:g.74721672C>A	ExAC,gnomAD
CYP1A1	P04798	p.Lys292Thr	rs760009642	missense variant	-	NC_000015.10:g.74721668T>G	ExAC,gnomAD
CYP1A1	P04798	p.Gln293Glu	rs1356947897	missense variant	-	NC_000015.10:g.74721666G>C	TOPMed
CYP1A1	P04798	p.Gln293His	rs369522545	missense variant	-	NC_000015.10:g.74721664C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu296Lys	rs1371300497	missense variant	-	NC_000015.10:g.74721657C>T	gnomAD
CYP1A1	P04798	p.Glu296Asp	rs1407021428	missense variant	-	NC_000015.10:g.74721655C>G	gnomAD
CYP1A1	P04798	p.Ala298Thr	COSM4056909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74721651C>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Asn299Ser	rs747475208	missense variant	-	NC_000015.10:g.74721647T>C	ExAC,gnomAD
CYP1A1	P04798	p.Gln301Ter	rs576054856	stop gained	-	NC_000015.10:g.74721642G>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Ser303Leu	rs1185021586	missense variant	-	NC_000015.10:g.74721635G>A	gnomAD
CYP1A1	P04798	p.Asp304ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.74721614_74721633ATGTTAATGATCTTCTCATC>-	NCI-TCGA
CYP1A1	P04798	p.Asp304His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74721633C>G	NCI-TCGA
CYP1A1	P04798	p.Glu305Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74721630C>G	NCI-TCGA
CYP1A1	P04798	p.Glu305Lys	rs779103951	missense variant	-	NC_000015.10:g.74721630C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys306Asn	rs755155099	missense variant	-	NC_000015.10:g.74721625C>A	ExAC,gnomAD
CYP1A1	P04798	p.Ile308Val	rs1196754101	missense variant	-	NC_000015.10:g.74721621T>C	gnomAD
CYP1A1	P04798	p.Ile308Met	rs1489265730	missense variant	-	NC_000015.10:g.74721619A>C	gnomAD
CYP1A1	P04798	p.Ile308Thr	rs1264808568	missense variant	-	NC_000015.10:g.74721620A>G	TOPMed
CYP1A1	P04798	p.Val311Ile	rs376586536	missense variant	-	NC_000015.10:g.74721612C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp313Gly	rs755794714	missense variant	-	NC_000015.10:g.74721605T>C	ExAC,gnomAD
CYP1A1	P04798	p.Leu314Pro	rs1282728081	missense variant	-	NC_000015.10:g.74721602A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Leu314Phe	rs750248838	missense variant	-	NC_000015.10:g.74721603G>A	ExAC,gnomAD
CYP1A1	P04798	p.Phe315Cys	rs756969439	missense variant	-	NC_000015.10:g.74721599A>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala317Val	rs751256789	missense variant	-	NC_000015.10:g.74721593G>A	ExAC,gnomAD
CYP1A1	P04798	p.Gly318Arg	rs373178275	missense variant	-	NC_000015.10:g.74721591C>T	ESP,ExAC,TOPMed
CYP1A1	P04798	p.Gly318Glu	rs745612512	missense variant	-	NC_000015.10:g.74721503C>T	ExAC,gnomAD
CYP1A1	P04798	p.Asp320Gly	rs781013981	missense variant	-	NC_000015.10:g.74721497T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr324Ala	rs757053417	missense variant	-	NC_000015.10:g.74721486T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr324Ser	rs751201537	missense variant	-	NC_000015.10:g.74721485G>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala325Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74721483C>G	NCI-TCGA
CYP1A1	P04798	p.Ala325Ser	rs201691396	missense variant	-	NC_000015.10:g.74721483C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile326Val	rs757839494	missense variant	-	NC_000015.10:g.74721480T>C	ExAC,gnomAD
CYP1A1	P04798	p.Ser327Phe	rs369465868	missense variant	-	NC_000015.10:g.74721476G>A	ESP,TOPMed
CYP1A1	P04798	p.Ser329Asn	rs989474773	missense variant	-	NC_000015.10:g.74721470C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Ser329Arg	rs766754993	missense variant	-	NC_000015.10:g.74721469G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser329Arg	rs766754993	missense variant	-	NC_000015.10:g.74721469G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met331Ile	rs56313657	missense variant	-	NC_000015.10:g.74721463C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met331Lys	rs1393401095	missense variant	-	NC_000015.10:g.74721464A>T	TOPMed
CYP1A1	P04798	p.Met331Ile	rs56313657	missense variant	-	NC_000015.10:g.74721463C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val334Ala	rs767906777	missense variant	-	NC_000015.10:g.74721455A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val334Glu	rs767906777	missense variant	-	NC_000015.10:g.74721455A>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn336Ser	rs762331374	missense variant	-	NC_000015.10:g.74721449T>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro337Ser	rs1226899058	missense variant	-	NC_000015.10:g.74721447G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Gln340His	rs1340288097	missense variant	-	NC_000015.10:g.74721436C>G	TOPMed,gnomAD
CYP1A1	P04798	p.Arg341Lys	rs866536829	missense variant	-	NC_000015.10:g.74721434C>T	TOPMed
CYP1A1	P04798	p.Lys342Asn	rs199747074	missense variant	-	NC_000015.10:g.74721430C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys342Asn	rs199747074	missense variant	-	NC_000015.10:g.74721430C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile343Leu	rs763080902	missense variant	-	NC_000015.10:g.74721429T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln344His	rs775674343	missense variant	-	NC_000015.10:g.74721424T>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu345Ter	rs539280298	stop gained	-	NC_000015.10:g.74721423C>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Glu346Gly	rs781050138	missense variant	-	NC_000015.10:g.74721419T>C	ExAC,gnomAD
CYP1A1	P04798	p.Glu346Gln	rs986807524	missense variant	-	NC_000015.10:g.74721420C>G	TOPMed
CYP1A1	P04798	p.Leu347Pro	rs1372013152	missense variant	-	NC_000015.10:g.74721416A>G	gnomAD
CYP1A1	P04798	p.Thr349Lys	rs746759986	missense variant	-	NC_000015.10:g.74721319G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr349Ile	rs746759986	missense variant	-	NC_000015.10:g.74721319G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val350Ala	rs777511101	missense variant	-	NC_000015.10:g.74721316A>G	ExAC,gnomAD
CYP1A1	P04798	p.Ile351Thr	rs771902675	missense variant	-	NC_000015.10:g.74721313A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg353Gly	rs747822093	missense variant	-	NC_000015.10:g.74721308T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser354Ter	rs1049791270	stop gained	-	NC_000015.10:g.74721304G>T	gnomAD
CYP1A1	P04798	p.Ser354Ala	rs1211994116	missense variant	-	NC_000015.10:g.74721305A>C	gnomAD
CYP1A1	P04798	p.Arg355Trp	rs191792412	missense variant	-	NC_000015.10:g.74721302G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg355Gln	rs753298761	missense variant	-	NC_000015.10:g.74721301C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg356Trp	rs1351755997	missense variant	-	NC_000015.10:g.74721299G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg356Gln	rs368650547	missense variant	-	NC_000015.10:g.74721298C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro357Leu	rs148341881	missense variant	-	NC_000015.10:g.74721295G>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Arg358Trp	rs371074476	missense variant	-	NC_000015.10:g.74721293G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg358Gln	rs186168141	missense variant	-	NC_000015.10:g.74721292C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu359Phe	rs1269949096	missense variant	-	NC_000015.10:g.74721290G>A	TOPMed
CYP1A1	P04798	p.Ser360Ter	NCI-TCGA novel	frameshift	-	NC_000015.10:g.74721285_74721286AG>-	NCI-TCGA
CYP1A1	P04798	p.Ser360Phe	COSM3503964	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74721286G>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Asp361Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74721282G>C	NCI-TCGA
CYP1A1	P04798	p.Arg362Ser	rs765383478	missense variant	-	NC_000015.10:g.74721279T>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg362Ile	rs200723875	missense variant	-	NC_000015.10:g.74721280C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser363Tyr	rs759604228	missense variant	-	NC_000015.10:g.74721277G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser363Phe	rs759604228	missense variant	-	NC_000015.10:g.74721277G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His364Gln	rs1414207354	missense variant	-	NC_000015.10:g.74721273A>C	gnomAD
CYP1A1	P04798	p.Pro366Ser	COSM3503963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74721269G>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Tyr367Cys	rs776598021	missense variant	-	NC_000015.10:g.74721265T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met368Val	rs766484540	missense variant	-	NC_000015.10:g.74721263T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met368Leu	rs766484540	missense variant	-	NC_000015.10:g.74721263T>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu369Asp	rs760582221	missense variant	-	NC_000015.10:g.74721258C>G	ExAC,gnomAD
CYP1A1	P04798	p.Glu369Gln	rs1201337188	missense variant	-	NC_000015.10:g.74721260C>G	gnomAD
CYP1A1	P04798	p.Ala370SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.74721257_74721258insT	NCI-TCGA
CYP1A1	P04798	p.Ala370Val	rs1261508980	missense variant	-	NC_000015.10:g.74721256G>A	gnomAD
CYP1A1	P04798	p.Phe371Tyr	rs375093189	missense variant	-	NC_000015.10:g.74721253A>T	ESP,ExAC
CYP1A1	P04798	p.Ile372Ser	rs771849645	missense variant	-	NC_000015.10:g.74721250A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu373Pro	rs747896348	missense variant	-	NC_000015.10:g.74721247A>G	ExAC,gnomAD
CYP1A1	P04798	p.Glu374Gly	rs1269397584	missense variant	-	NC_000015.10:g.74721244T>C	gnomAD
CYP1A1	P04798	p.Thr375Asn	rs905657710	missense variant	-	NC_000015.10:g.74721241G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Thr375Ile	rs905657710	missense variant	-	NC_000015.10:g.74721241G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Phe376Tyr	rs1276203155	missense variant	-	NC_000015.10:g.74721238A>T	gnomAD
CYP1A1	P04798	p.Arg377Ter	rs768212140	stop gained	-	NC_000015.10:g.74721236G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg377Gln	rs201174966	missense variant	-	NC_000015.10:g.74721235C>T	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Ser380Ala	rs779682021	missense variant	-	NC_000015.10:g.74721227A>C	ExAC,gnomAD
CYP1A1	P04798	p.Ser380Phe	rs1389276967	missense variant	-	NC_000015.10:g.74721226G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Phe381Leu	rs2856833	missense variant	-	NC_000015.10:g.74721222G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Phe381Leu	rs2856833	missense variant	-	NC_000015.10:g.74721222G>C	TOPMed,gnomAD
CYP1A1	P04798	p.Val382Ala	rs1174492608	missense variant	-	NC_000015.10:g.74721220A>G	gnomAD
CYP1A1	P04798	p.Val382Ile	rs201651069	missense variant	-	NC_000015.10:g.74721221C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro383Leu	rs778494829	missense variant	-	NC_000015.10:g.74721217G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro383His	rs778494829	missense variant	-	NC_000015.10:g.74721217G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro383Ser	rs947102105	missense variant	-	NC_000015.10:g.74721218G>A	TOPMed
CYP1A1	P04798	p.Ile386Ser	rs1187061906	missense variant	-	NC_000015.10:g.74721208A>C	TOPMed,gnomAD
CYP1A1	P04798	p.Ile386Val	rs367605080	missense variant	-	NC_000015.10:g.74721209T>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro387Leu	rs988977632	missense variant	-	NC_000015.10:g.74721205G>A	TOPMed
CYP1A1	P04798	p.His388Pro	rs765452772	missense variant	-	NC_000015.10:g.74721202T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His388Arg	rs765452772	missense variant	-	NC_000015.10:g.74721202T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser389Gly	rs1203612160	missense variant	-	NC_000015.10:g.74721200T>C	gnomAD
CYP1A1	P04798	p.Ser389Arg	rs748507253	missense variant	-	NC_000015.10:g.74721053G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr391Ala	rs1035607364	missense variant	-	NC_000015.10:g.74721049T>C	TOPMed
CYP1A1	P04798	p.Arg392Gly	rs1275923224	missense variant	-	NC_000015.10:g.74721046T>C	TOPMed,gnomAD
CYP1A1	P04798	p.Asp393Val	rs762064937	missense variant	-	NC_000015.10:g.74721042T>A	gnomAD
CYP1A1	P04798	p.Asp393Ala	rs762064937	missense variant	-	NC_000015.10:g.74721042T>G	gnomAD
CYP1A1	P04798	p.Asp393Asn	rs1380427518	missense variant	-	NC_000015.10:g.74721043C>T	TOPMed
CYP1A1	P04798	p.Thr394Arg	rs779123202	missense variant	-	NC_000015.10:g.74721039G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr394Ala	rs1421103263	missense variant	-	NC_000015.10:g.74721040T>C	TOPMed
CYP1A1	P04798	p.Ser395Arg	COSM1938717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74721037T>G	NCI-TCGA Cosmic
CYP1A1	P04798	p.Leu396Val	rs755427562	missense variant	-	NC_000015.10:g.74721034A>C	ExAC,gnomAD
CYP1A1	P04798	p.Tyr400His	rs1008131147	missense variant	-	NC_000015.10:g.74721022A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Ile401Asn	rs1432826390	missense variant	-	NC_000015.10:g.74721018A>T	gnomAD
CYP1A1	P04798	p.Ile401Leu	rs777186546	missense variant	-	NC_000015.10:g.74721019T>G	TOPMed
CYP1A1	P04798	p.Gly404Glu	rs754054915	missense variant	-	NC_000015.10:g.74721009C>T	ExAC
CYP1A1	P04798	p.Arg405AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.74721008_74721009insG	NCI-TCGA
CYP1A1	P04798	p.Arg405Ser	rs1171289597	missense variant	-	NC_000015.10:g.74721007G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Arg405His	rs56127934	missense variant	-	NC_000015.10:g.74721006C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg405Cys	rs1171289597	missense variant	-	NC_000015.10:g.74721007G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Cys406Tyr	rs750520977	missense variant	-	NC_000015.10:g.74721003C>T	ExAC,gnomAD
CYP1A1	P04798	p.Val407Asp	rs1471948876	missense variant	-	NC_000015.10:g.74721000A>T	gnomAD
CYP1A1	P04798	p.Gln411Pro	rs767446337	missense variant	-	NC_000015.10:g.74720988T>G	ExAC,gnomAD
CYP1A1	P04798	p.Gln411His	rs1183810110	missense variant	-	NC_000015.10:g.74720987C>A	gnomAD
CYP1A1	P04798	p.Trp412Ter	rs1264551753	stop gained	-	NC_000015.10:g.74720985C>T	gnomAD
CYP1A1	P04798	p.Trp412Arg	rs377421606	missense variant	-	NC_000015.10:g.74720986A>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile414Thr	rs201265044	missense variant	-	NC_000015.10:g.74720979A>G	1000Genomes
CYP1A1	P04798	p.Ile414Val	rs751567451	missense variant	-	NC_000015.10:g.74720980T>C	ExAC,gnomAD
CYP1A1	P04798	p.Asn415Thr	rs762876189	missense variant	-	NC_000015.10:g.74720976T>G	ExAC,gnomAD
CYP1A1	P04798	p.Asn415Ile	rs762876189	missense variant	-	NC_000015.10:g.74720976T>A	ExAC,gnomAD
CYP1A1	P04798	p.His416Gln	rs1379156959	missense variant	-	NC_000015.10:g.74720972A>T	TOPMed
CYP1A1	P04798	p.His416Asn	rs1290445836	missense variant	-	NC_000015.10:g.74720974G>T	gnomAD
CYP1A1	P04798	p.Asp417Asn	rs1190346566	missense variant	-	NC_000015.10:g.74720971C>T	gnomAD
CYP1A1	P04798	p.Lys419Glu	rs138804663	missense variant	-	NC_000015.10:g.74720773T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Trp421Cys	rs578124762	missense variant	-	NC_000015.10:g.74720765C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val422Ile	rs770339773	missense variant	-	NC_000015.10:g.74720764C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val422Ala	rs1245678102	missense variant	-	NC_000015.10:g.74720763A>G	TOPMed
CYP1A1	P04798	p.Pro424Leu	rs769227467	missense variant	-	NC_000015.10:g.74720757G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro424Thr	rs774658772	missense variant	-	NC_000015.10:g.74720758G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu426Gly	rs1300396052	missense variant	-	NC_000015.10:g.74720751T>C	gnomAD
CYP1A1	P04798	p.Phe427Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74720747G>C	NCI-TCGA
CYP1A1	P04798	p.Leu428ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.74720746_74720747insACCT	NCI-TCGA
CYP1A1	P04798	p.Arg431Gln	rs746078945	missense variant	-	NC_000015.10:g.74720736C>T	ExAC,gnomAD
CYP1A1	P04798	p.Arg431Trp	rs770191780	missense variant	-	NC_000015.10:g.74720737G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp436Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74720722C>A	NCI-TCGA
CYP1A1	P04798	p.Asp436Val	rs1460389026	missense variant	-	NC_000015.10:g.74720721T>A	TOPMed
CYP1A1	P04798	p.Ala438Val	COSM1129113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74720715G>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Ile439Val	rs781545021	missense variant	-	NC_000015.10:g.74720713T>C	ExAC,gnomAD
CYP1A1	P04798	p.Asp440Tyr	rs145198866	missense variant	-	NC_000015.10:g.74720710C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp440Val	rs758445411	missense variant	-	NC_000015.10:g.74720709T>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp440Asn	rs145198866	missense variant	-	NC_000015.10:g.74720710C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys441Met	COSM701196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74720706T>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Lys441Arg	rs752724213	missense variant	-	NC_000015.10:g.74720706T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val442Gly	rs1292499417	missense variant	-	NC_000015.10:g.74720703A>C	gnomAD
CYP1A1	P04798	p.ValLeuSerGlu442ValLeuSerValLysTerUnk	rs1319890121	stop gained	-	NC_000015.10:g.74720704_74720705insTTAACAC	TOPMed
CYP1A1	P04798	p.Glu445Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74720693C>A	NCI-TCGA
CYP1A1	P04798	p.Glu445Asp	rs1226579512	missense variant	-	NC_000015.10:g.74720693C>G	TOPMed
CYP1A1	P04798	p.Val447AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.74720676_74720688CCAAAGATAATCA>-	NCI-TCGA
CYP1A1	P04798	p.Val447Leu	rs754884581	missense variant	-	NC_000015.10:g.74720689C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val447Met	rs754884581	missense variant	-	NC_000015.10:g.74720689C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile448Asn	rs72547509	missense variant	-	NC_000015.10:g.74720685A>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile448Thr	rs72547509	missense variant	-	NC_000015.10:g.74720685A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile449Phe	rs760050326	missense variant	-	NC_000015.10:g.74720683T>A	ExAC,gnomAD
CYP1A1	P04798	p.Ile449Asn	rs955318319	missense variant	-	NC_000015.10:g.74720682A>T	TOPMed,gnomAD
CYP1A1	P04798	p.Phe450Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74720679A>G	NCI-TCGA
CYP1A1	P04798	p.Phe450LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.74720681G>-	NCI-TCGA
CYP1A1	P04798	p.Gly451Val	rs772810680	missense variant	-	NC_000015.10:g.74720676C>A	ExAC,gnomAD
CYP1A1	P04798	p.Met452Thr	rs1379298245	missense variant	-	NC_000015.10:g.74720673A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Met452Ile	rs767053022	missense variant	-	NC_000015.10:g.74720672C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gly453Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74720670C>A	NCI-TCGA
CYP1A1	P04798	p.Gly453Arg	rs763427692	missense variant	-	NC_000015.10:g.74720671C>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys454Asn	rs369745647	missense variant	-	NC_000015.10:g.74720666C>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg455Gln	rs180744198	missense variant	-	NC_000015.10:g.74720664C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg455Trp	rs770140945	missense variant	-	NC_000015.10:g.74720665G>A	ExAC,gnomAD
CYP1A1	P04798	p.Cys457Tyr	rs776659416	missense variant	-	NC_000015.10:g.74720658C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Cys457Phe	rs776659416	missense variant	-	NC_000015.10:g.74720658C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly459Ser	rs371662141	missense variant	-	NC_000015.10:g.74720653C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu460Lys	COSM3503961	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74720650C>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Thr461Ile	rs1799814	missense variant	-	NC_000015.10:g.74720646G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr461Asn	rs1799814	missense variant	-	NC_000015.10:g.74720646G>T	UniProt,dbSNP
CYP1A1	P04798	p.Thr461Asn	VAR_008342	missense variant	-	NC_000015.10:g.74720646G>T	UniProt
CYP1A1	P04798	p.Thr461Asn	rs1799814	missense variant	-	NC_000015.10:g.74720646G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Thr	rs752537968	missense variant	-	NC_000015.10:g.74720643A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Leu	rs1048943	missense variant	-	NC_000015.10:g.74720644T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Val	rs1048943	missense variant	-	NC_000015.10:g.74720644T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Phe	rs1048943	missense variant	-	NC_000015.10:g.74720644T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Val	rs1048943	missense variant	-	NC_000015.10:g.74720644T>C	UniProt,dbSNP
CYP1A1	P04798	p.Ile462Val	VAR_001243	missense variant	-	NC_000015.10:g.74720644T>C	UniProt
CYP1A1	P04798	p.Ile462Asn	rs752537968	missense variant	-	NC_000015.10:g.74720643A>T	TOPMed,gnomAD
CYP1A1	P04798	p.Ala463Ser	rs141177861	missense variant	-	NC_000015.10:g.74720641C>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Ala463Thr	rs141177861	missense variant	-	NC_000015.10:g.74720641C>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Ala463Val	rs2278970	missense variant	-	NC_000015.10:g.74720640G>A	ExAC,gnomAD
CYP1A1	P04798	p.Ala463Gly	rs2278970	missense variant	-	NC_000015.10:g.74720640G>C	ExAC,gnomAD
CYP1A1	P04798	p.Arg464Ser	rs41279188	missense variant	-	NC_000015.10:g.74720638G>T	UniProt,dbSNP
CYP1A1	P04798	p.Arg464Ser	VAR_016940	missense variant	-	NC_000015.10:g.74720638G>T	UniProt
CYP1A1	P04798	p.Arg464Ser	rs41279188	missense variant	-	NC_000015.10:g.74720638G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg464His	rs1014488188	missense variant	-	NC_000015.10:g.74720637C>T	gnomAD
CYP1A1	P04798	p.Arg464Cys	rs41279188	missense variant	-	NC_000015.10:g.74720638G>A	UniProt,dbSNP
CYP1A1	P04798	p.Arg464Cys	VAR_016939	missense variant	-	NC_000015.10:g.74720638G>A	UniProt
CYP1A1	P04798	p.Arg464Cys	rs41279188	missense variant	-	NC_000015.10:g.74720638G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu466Lys	rs750089998	missense variant	-	NC_000015.10:g.74720632C>T	ExAC,gnomAD
CYP1A1	P04798	p.Phe468Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.74720625A>G	NCI-TCGA
CYP1A1	P04798	p.Phe470Tyr	rs761381484	missense variant	-	NC_000015.10:g.74720619A>T	ExAC,gnomAD
CYP1A1	P04798	p.Phe470Val	rs36121583	missense variant	-	NC_000015.10:g.74720620A>C	-
CYP1A1	P04798	p.Phe470Val	rs36121583	missense variant	-	NC_000015.10:g.74720620A>C	UniProt,dbSNP
CYP1A1	P04798	p.Phe470Val	VAR_033818	missense variant	-	NC_000015.10:g.74720620A>C	UniProt
CYP1A1	P04798	p.Ile473Asn	rs1411228732	missense variant	-	NC_000015.10:g.74720610A>T	gnomAD
CYP1A1	P04798	p.Leu474Pro	rs147634852	missense variant	-	NC_000015.10:g.74720607A>G	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Leu475Pro	rs1471673167	missense variant	-	NC_000015.10:g.74720604A>G	gnomAD
CYP1A1	P04798	p.Gln476Glu	rs759771555	missense variant	-	NC_000015.10:g.74720602G>C	ExAC,gnomAD
CYP1A1	P04798	p.Arg477Gln	rs140680363	missense variant	-	NC_000015.10:g.74720598C>T	ESP,TOPMed,gnomAD
CYP1A1	P04798	p.Arg477Gly	rs56240201	missense variant	-	NC_000015.10:g.74720599G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg477Trp	rs56240201	missense variant	-	NC_000015.10:g.74720599G>A	UniProt,dbSNP
CYP1A1	P04798	p.Arg477Trp	VAR_016941	missense variant	-	NC_000015.10:g.74720599G>A	UniProt
CYP1A1	P04798	p.Arg477Trp	rs56240201	missense variant	-	NC_000015.10:g.74720599G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val478Met	rs771243368	missense variant	-	NC_000015.10:g.74720596C>T	ExAC,gnomAD
CYP1A1	P04798	p.Glu479Lys	COSM3503959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74720593C>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Glu479Val	rs773629149	missense variant	-	NC_000015.10:g.74720592T>A	ExAC,gnomAD
CYP1A1	P04798	p.Ser481Gly	rs1226008882	missense variant	-	NC_000015.10:g.74720587T>C	gnomAD
CYP1A1	P04798	p.Ser481Thr	rs1330666981	missense variant	-	NC_000015.10:g.74720586C>G	gnomAD
CYP1A1	P04798	p.Val482Met	rs28399429	missense variant	-	NC_000015.10:g.74720584C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro483Ser	rs45500996	missense variant	-	NC_000015.10:g.74720581G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro483Thr	rs45500996	missense variant	-	NC_000015.10:g.74720581G>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly485Arg	rs1335138887	missense variant	-	NC_000015.10:g.74720575C>G	TOPMed,gnomAD
CYP1A1	P04798	p.Val486Glu	rs1318511924	missense variant	-	NC_000015.10:g.74720571A>T	gnomAD
CYP1A1	P04798	p.Val486Met	rs749223641	missense variant	-	NC_000015.10:g.74720572C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val486Leu	rs749223641	missense variant	-	NC_000015.10:g.74720572C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val488Met	rs779876388	missense variant	-	NC_000015.10:g.74720566C>T	ExAC,gnomAD
CYP1A1	P04798	p.Asp489Tyr	rs1387269151	missense variant	-	NC_000015.10:g.74720563C>A	gnomAD
CYP1A1	P04798	p.Asp489Ala	rs1318518361	missense variant	-	NC_000015.10:g.74720562T>G	gnomAD
CYP1A1	P04798	p.Thr491Asn	rs755919617	missense variant	-	NC_000015.10:g.74720556G>T	ExAC
CYP1A1	P04798	p.Thr491Ala	rs1376199019	missense variant	-	NC_000015.10:g.74720557T>C	gnomAD
CYP1A1	P04798	p.Pro492Arg	rs28399430	missense variant	-	NC_000015.10:g.74720553G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr494Cys	rs367604147	missense variant	-	NC_000015.10:g.74720547T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly495Trp	rs142388113	missense variant	-	NC_000015.10:g.74720545C>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr497Asn	rs1284361340	missense variant	-	NC_000015.10:g.74720538G>T	gnomAD
CYP1A1	P04798	p.Met498Thr	rs765698057	missense variant	-	NC_000015.10:g.74720535A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His500Leu	rs760061276	missense variant	-	NC_000015.10:g.74720529T>A	ExAC,gnomAD
CYP1A1	P04798	p.His500Asp	rs1342430592	missense variant	-	NC_000015.10:g.74720530G>C	gnomAD
CYP1A1	P04798	p.His500Tyr	rs1342430592	missense variant	-	NC_000015.10:g.74720530G>A	gnomAD
CYP1A1	P04798	p.Ala501Val	rs766755387	missense variant	-	NC_000015.10:g.74720526G>A	ExAC,gnomAD
CYP1A1	P04798	p.Cys503Ser	rs760948792	missense variant	-	NC_000015.10:g.74720520C>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Cys503Arg	rs1279844744	missense variant	-	NC_000015.10:g.74720521A>G	TOPMed
CYP1A1	P04798	p.Cys503Phe	rs760948792	missense variant	-	NC_000015.10:g.74720520C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe506Leu	rs1346984407	missense variant	-	NC_000015.10:g.74720512A>G	gnomAD
CYP1A1	P04798	p.Phe506Cys	rs1197263279	missense variant	-	NC_000015.10:g.74720511A>C	TOPMed
CYP1A1	P04798	p.Gln507Lys	COSM74309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74720509G>T	NCI-TCGA Cosmic
CYP1A1	P04798	p.Gln507Glu	rs772442747	missense variant	-	NC_000015.10:g.74720509G>C	ExAC,gnomAD
CYP1A1	P04798	p.Gln509Leu	COSM701197	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.74720502T>A	NCI-TCGA Cosmic
CYP1A1	P04798	p.Gln509Arg	rs1414047981	missense variant	-	NC_000015.10:g.74720502T>C	gnomAD
CYP1A1	P04798	p.Gln509His	rs1292016862	missense variant	-	NC_000015.10:g.74720501C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg511Leu	rs56343424	missense variant	-	NC_000015.10:g.74720496C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg511His	rs56343424	missense variant	-	NC_000015.10:g.74720496C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg511Cys	rs148638069	missense variant	-	NC_000015.10:g.74720497G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu2Arg	rs1176559692	missense variant	-	NC_000015.10:g.74723093A>C	TOPMed,gnomAD
CYP1A1	P04798	p.Ile5Asn	rs560039501	missense variant	-	NC_000015.10:g.74723084A>T	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Ile5Val	rs757606619	missense variant	-	NC_000015.10:g.74723085T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met7Val	rs777905948	missense variant	-	NC_000015.10:g.74723079T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met7Thr	rs758562697	missense variant	-	NC_000015.10:g.74723078A>G	ExAC,gnomAD
CYP1A1	P04798	p.Ser8Leu	rs148505285	missense variant	-	NC_000015.10:g.74723075G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala9Val	rs755133321	missense variant	-	NC_000015.10:g.74723072G>A	ExAC,gnomAD
CYP1A1	P04798	p.Thr10Arg	rs753812224	missense variant	-	NC_000015.10:g.74723069G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr10Met	rs753812224	missense variant	-	NC_000015.10:g.74723069G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe19Leu	rs750252519	missense variant	-	NC_000015.10:g.74723041G>T	ExAC,gnomAD
CYP1A1	P04798	p.Cys20Phe	rs1164944044	missense variant	-	NC_000015.10:g.74723039C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Cys20Arg	rs767145702	missense variant	-	NC_000015.10:g.74723040A>G	ExAC,gnomAD
CYP1A1	P04798	p.Trp24Ter	rs375315082	stop gained	-	NC_000015.10:g.74723027C>T	gnomAD
CYP1A1	P04798	p.Trp24Ter	rs145924908	stop gained	-	NC_000015.10:g.74723026C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Trp24Arg	rs774097027	missense variant	-	NC_000015.10:g.74723028A>G	ExAC,gnomAD
CYP1A1	P04798	p.Trp24Cys	rs145924908	missense variant	-	NC_000015.10:g.74723026C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val25Ala	rs1198021323	missense variant	-	NC_000015.10:g.74723024A>G	gnomAD
CYP1A1	P04798	p.Arg27Lys	rs777119337	missense variant	-	NC_000015.10:g.74723018C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser29Pro	rs771432878	missense variant	-	NC_000015.10:g.74723013A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro31Arg	rs1490549680	missense variant	-	NC_000015.10:g.74723006G>C	gnomAD
CYP1A1	P04798	p.Gln32Ter	rs1285568419	stop gained	-	NC_000015.10:g.74723004G>A	gnomAD
CYP1A1	P04798	p.Val33Ile	rs747317438	missense variant	-	NC_000015.10:g.74723001C>T	ExAC,gnomAD
CYP1A1	P04798	p.Lys35Glu	rs1303275212	missense variant	-	NC_000015.10:g.74722995T>C	TOPMed
CYP1A1	P04798	p.Gly36Asp	rs1233083776	missense variant	-	NC_000015.10:g.74722991C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Leu37Pro	rs1236573643	missense variant	-	NC_000015.10:g.74722988A>G	TOPMed
CYP1A1	P04798	p.Gly42Arg	rs1305551656	missense variant	-	NC_000015.10:g.74722974C>G	gnomAD
CYP1A1	P04798	p.Pro43Thr	rs1359392428	missense variant	-	NC_000015.10:g.74722971G>T	gnomAD
CYP1A1	P04798	p.Trp44Leu	rs1408390236	missense variant	-	NC_000015.10:g.74722967C>A	gnomAD
CYP1A1	P04798	p.Trp44Arg	rs1402106037	missense variant	-	NC_000015.10:g.74722968A>T	TOPMed,gnomAD
CYP1A1	P04798	p.Gly45Asp	rs4646422	missense variant	-	NC_000015.10:g.74722964C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly45Arg	rs755005663	missense variant	-	NC_000015.10:g.74722965C>G	ExAC,gnomAD
CYP1A1	P04798	p.Trp46Cys	rs780078658	missense variant	-	NC_000015.10:g.74722960C>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro47Ser	rs1200137212	missense variant	-	NC_000015.10:g.74722959G>A	gnomAD
CYP1A1	P04798	p.Pro47His	rs756138124	missense variant	-	NC_000015.10:g.74722958G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile49Asn	rs565370983	missense variant	-	NC_000015.10:g.74722952A>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile49Thr	rs565370983	missense variant	-	NC_000015.10:g.74722952A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly50Arg	rs767189328	missense variant	-	NC_000015.10:g.74722950C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gly50Glu	rs761719283	missense variant	-	NC_000015.10:g.74722949C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met52Leu	rs1285714571	missense variant	-	NC_000015.10:g.74722944T>A	gnomAD
CYP1A1	P04798	p.Leu55Pro	rs1339216487	missense variant	-	NC_000015.10:g.74722934A>G	gnomAD
CYP1A1	P04798	p.Lys57Arg	rs913685889	missense variant	-	NC_000015.10:g.74722928T>C	TOPMed
CYP1A1	P04798	p.Lys57Asn	rs762383674	missense variant	-	NC_000015.10:g.74722927C>A	ExAC,gnomAD
CYP1A1	P04798	p.Pro59Leu	rs149846182	missense variant	-	NC_000015.10:g.74722922G>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Pro59Gln	rs149846182	missense variant	-	NC_000015.10:g.74722922G>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.His60Pro	rs761140013	missense variant	-	NC_000015.10:g.74722919T>G	ExAC,gnomAD
CYP1A1	P04798	p.Leu61Val	rs773817962	missense variant	-	NC_000015.10:g.74722917G>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala62Thr	rs143070677	missense variant	-	NC_000015.10:g.74722914C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala62Pro	rs143070677	missense variant	-	NC_000015.10:g.74722914C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu63Gln	rs1177040739	missense variant	-	NC_000015.10:g.74722910A>T	gnomAD
CYP1A1	P04798	p.Ser64Pro	rs1465057929	missense variant	-	NC_000015.10:g.74722908A>G	gnomAD
CYP1A1	P04798	p.Arg65Lys	rs1234721707	missense variant	-	NC_000015.10:g.74722904C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Met66Val	rs35035798	missense variant	-	NC_000015.10:g.74722902T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met66Ile	rs778933231	missense variant	-	NC_000015.10:g.74722900C>T	ExAC,gnomAD
CYP1A1	P04798	p.Met66Val	rs35035798	missense variant	-	NC_000015.10:g.74722902T>C	UniProt,dbSNP
CYP1A1	P04798	p.Met66Val	VAR_033817	missense variant	-	NC_000015.10:g.74722902T>C	UniProt
CYP1A1	P04798	p.Ser67Asn	rs769009780	missense variant	-	NC_000015.10:g.74722898C>T	ExAC,gnomAD
CYP1A1	P04798	p.Ser67Arg	rs749328902	missense variant	-	NC_000015.10:g.74722897G>C	ExAC,gnomAD
CYP1A1	P04798	p.Gln68Ter	rs1170746940	stop gained	-	NC_000015.10:g.74722896G>A	TOPMed
CYP1A1	P04798	p.Gln69Ter	rs572138243	stop gained	-	NC_000015.10:g.74722893G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln69His	rs1434738999	missense variant	-	NC_000015.10:g.74722891C>A	TOPMed
CYP1A1	P04798	p.Tyr70Cys	rs112517897	missense variant	-	NC_000015.10:g.74722889T>C	TOPMed,gnomAD
CYP1A1	P04798	p.Asp72Asn	rs376399672	missense variant	-	NC_000015.10:g.74722884C>T	ESP
CYP1A1	P04798	p.Asp72Glu	rs139919943	missense variant	-	NC_000015.10:g.74722882G>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val73Glu	rs1270201997	missense variant	-	NC_000015.10:g.74722880A>T	gnomAD
CYP1A1	P04798	p.Val73Met	rs373568981	missense variant	-	NC_000015.10:g.74722881C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln75Arg	rs554072118	missense variant	-	NC_000015.10:g.74722874T>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln75Pro	rs554072118	missense variant	-	NC_000015.10:g.74722874T>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg77Ter	rs371190271	stop gained	-	NC_000015.10:g.74722869G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg77Leu	rs1450069713	missense variant	-	NC_000015.10:g.74722868C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg77Gln	rs1450069713	missense variant	-	NC_000015.10:g.74722868C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Ile78Thr	rs17861094	missense variant	-	NC_000015.10:g.74722865A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly79Asp	rs1337155933	missense variant	-	NC_000015.10:g.74722862C>T	gnomAD
CYP1A1	P04798	p.Ser80Phe	rs373246855	missense variant	-	NC_000015.10:g.74722859G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr81Ile	rs138474634	missense variant	-	NC_000015.10:g.74722856G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro82Ser	rs537005466	missense variant	-	NC_000015.10:g.74722854G>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Val83Met	rs768956417	missense variant	-	NC_000015.10:g.74722851C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val84Met	rs1171054135	missense variant	-	NC_000015.10:g.74722848C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Leu86Val	rs1395693886	missense variant	-	NC_000015.10:g.74722842G>C	TOPMed
CYP1A1	P04798	p.Gly88Ser	rs77425771	missense variant	-	NC_000015.10:g.74722836C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly88Val	rs893613070	missense variant	-	NC_000015.10:g.74722835C>A	TOPMed
CYP1A1	P04798	p.Gly88Asp	rs893613070	missense variant	-	NC_000015.10:g.74722835C>T	TOPMed
CYP1A1	P04798	p.Asp90Gly	rs769983960	missense variant	-	NC_000015.10:g.74722829T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr91Pro	rs746029569	missense variant	-	NC_000015.10:g.74722827T>G	ExAC,gnomAD
CYP1A1	P04798	p.Thr91Ile	rs780925747	missense variant	-	NC_000015.10:g.74722826G>A	ExAC,gnomAD
CYP1A1	P04798	p.Arg93Leu	rs45528935	missense variant	-	NC_000015.10:g.74722820C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg93Trp	rs2229150	missense variant	-	NC_000015.10:g.74722821G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg93Pro	rs45528935	missense variant	-	NC_000015.10:g.74722820C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg93Gln	rs45528935	missense variant	-	NC_000015.10:g.74722820C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln94Ter	rs758238061	stop gained	-	NC_000015.10:g.74722818G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala95Val	rs373137650	missense variant	-	NC_000015.10:g.74722814G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg98Gln	rs368952331	missense variant	-	NC_000015.10:g.74722805C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg98Trp	rs754416936	missense variant	-	NC_000015.10:g.74722806G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln99His	rs774756784	missense variant	-	NC_000015.10:g.74722801C>A	ExAC,gnomAD
CYP1A1	P04798	p.Gln99His	rs774756784	missense variant	-	NC_000015.10:g.74722801C>G	ExAC,gnomAD
CYP1A1	P04798	p.Gln99Ter	rs767860316	stop gained	-	NC_000015.10:g.74722803G>A	ExAC,gnomAD
CYP1A1	P04798	p.Gly100Asp	rs764534349	missense variant	-	NC_000015.10:g.74722799C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gly100Val	rs764534349	missense variant	-	NC_000015.10:g.74722799C>A	ExAC,gnomAD
CYP1A1	P04798	p.Asp101Asn	rs141173079	missense variant	-	NC_000015.10:g.74722797C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp101Glu	rs1243352948	missense variant	-	NC_000015.10:g.74722795A>T	TOPMed
CYP1A1	P04798	p.Phe103Val	rs548096213	missense variant	-	NC_000015.10:g.74722791A>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly105Asp	rs1239041357	missense variant	-	NC_000015.10:g.74722784C>T	gnomAD
CYP1A1	P04798	p.Arg106Trp	rs776797048	missense variant	-	NC_000015.10:g.74722782G>A	ExAC,TOPMed
CYP1A1	P04798	p.Arg106Gln	rs770734367	missense variant	-	NC_000015.10:g.74722781C>T	ExAC,TOPMed
CYP1A1	P04798	p.Arg106Leu	rs770734367	missense variant	-	NC_000015.10:g.74722781C>A	ExAC,TOPMed
CYP1A1	P04798	p.Pro107Thr	rs372306597	missense variant	-	NC_000015.10:g.74722779G>T	ESP,TOPMed
CYP1A1	P04798	p.Asp108Asn	rs78901429	missense variant	-	NC_000015.10:g.74722776C>T	ExAC,TOPMed
CYP1A1	P04798	p.Asp108Tyr	rs78901429	missense variant	-	NC_000015.10:g.74722776C>A	ExAC,TOPMed
CYP1A1	P04798	p.Asp108Ala	rs373368945	missense variant	-	NC_000015.10:g.74722775T>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr111Ala	rs778476792	missense variant	-	NC_000015.10:g.74722767T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr113Ser	rs1367571879	missense variant	-	NC_000015.10:g.74722761T>A	gnomAD
CYP1A1	P04798	p.Ile115Val	rs779581749	missense variant	-	NC_000015.10:g.74722755T>C	ExAC,gnomAD
CYP1A1	P04798	p.Gly118Asp	rs755633017	missense variant	-	NC_000015.10:g.74722745C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gln119Ter	rs1161738771	stop gained	-	NC_000015.10:g.74722743G>A	gnomAD
CYP1A1	P04798	p.Ser124Gly	rs752097572	missense variant	-	NC_000015.10:g.74722728T>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro125Thr	rs1197943157	missense variant	-	NC_000015.10:g.74722725G>T	gnomAD
CYP1A1	P04798	p.Asp126Glu	rs753126837	missense variant	-	NC_000015.10:g.74722720G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp126Gly	rs763346193	missense variant	-	NC_000015.10:g.74722721T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp126Asn	rs375219443	missense variant	-	NC_000015.10:g.74722722C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp126Ala	rs763346193	missense variant	-	NC_000015.10:g.74722721T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro129Ser	rs372197865	missense variant	-	NC_000015.10:g.74722713G>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Pro129Leu	rs776759251	missense variant	-	NC_000015.10:g.74722712G>A	ExAC,gnomAD
CYP1A1	P04798	p.Val130Gly	rs1180020677	missense variant	-	NC_000015.10:g.74722709A>C	TOPMed
CYP1A1	P04798	p.Val130Leu	rs985825465	missense variant	-	NC_000015.10:g.74722710C>G	TOPMed
CYP1A1	P04798	p.Trp131Ter	rs1281267216	stop gained	-	NC_000015.10:g.74722705C>T	gnomAD
CYP1A1	P04798	p.Ala132Pro	rs35196245	missense variant	-	NC_000015.10:g.74722704C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala133Pro	rs1347414882	missense variant	-	NC_000015.10:g.74722701C>G	gnomAD
CYP1A1	P04798	p.Arg134Ser	rs1284032649	missense variant	-	NC_000015.10:g.74722698G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Arg134His	rs367709511	missense variant	-	NC_000015.10:g.74722697C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg134Cys	rs1284032649	missense variant	-	NC_000015.10:g.74722698G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg135Gln	rs768371517	missense variant	-	NC_000015.10:g.74722694C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg135Trp	rs45442501	missense variant	-	NC_000015.10:g.74722695G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg136His	rs202201538	missense variant	-	NC_000015.10:g.74722691C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg136Cys	rs141291433	missense variant	-	NC_000015.10:g.74722692G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala138Thr	rs1429298968	missense variant	-	NC_000015.10:g.74722686C>T	gnomAD
CYP1A1	P04798	p.Ser144Arg	rs755649144	missense variant	-	NC_000015.10:g.74722668T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe145Leu	rs1281168233	missense variant	-	NC_000015.10:g.74722665A>G	TOPMed
CYP1A1	P04798	p.Ile147Thr	rs1232845213	missense variant	-	NC_000015.10:g.74722658A>G	TOPMed
CYP1A1	P04798	p.Ile147Val	rs960353942	missense variant	-	NC_000015.10:g.74722659T>C	TOPMed
CYP1A1	P04798	p.Ala148Val	rs749960160	missense variant	-	NC_000015.10:g.74722655G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser149Pro	rs1460688001	missense variant	-	NC_000015.10:g.74722653A>G	gnomAD
CYP1A1	P04798	p.Ser149Phe	rs1261043717	missense variant	-	NC_000015.10:g.74722652G>A	gnomAD
CYP1A1	P04798	p.Ser153Phe	rs1324187291	missense variant	-	NC_000015.10:g.74722640G>A	gnomAD
CYP1A1	P04798	p.Thr155Ala	rs1256600881	missense variant	-	NC_000015.10:g.74722635T>C	gnomAD
CYP1A1	P04798	p.Cys157Tyr	rs1349585864	missense variant	-	NC_000015.10:g.74722628C>T	TOPMed
CYP1A1	P04798	p.Leu159Pro	rs1193768005	missense variant	-	NC_000015.10:g.74722622A>G	TOPMed
CYP1A1	P04798	p.Glu160Lys	rs758997626	missense variant	-	NC_000015.10:g.74722620C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu161Gln	rs368890165	missense variant	-	NC_000015.10:g.74722617C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu161Gly	rs202221673	missense variant	-	NC_000015.10:g.74722616T>C	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Glu161Lys	rs368890165	missense variant	-	NC_000015.10:g.74722617C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu161Ala	rs202221673	missense variant	-	NC_000015.10:g.74722616T>G	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.His162Arg	rs754086281	missense variant	-	NC_000015.10:g.74722613T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser164Asn	rs1251614582	missense variant	-	NC_000015.10:g.74722607C>T	TOPMed
CYP1A1	P04798	p.Lys165Asn	rs1167913201	missense variant	-	NC_000015.10:g.74722603C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Ala167Gly	rs372215528	missense variant	-	NC_000015.10:g.74722598G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile171Lys	rs1170643113	missense variant	-	NC_000015.10:g.74722586A>T	gnomAD
CYP1A1	P04798	p.Thr173Arg	rs28399427	missense variant	-	NC_000015.10:g.74722580G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr173Met	rs28399427	missense variant	-	NC_000015.10:g.74722580G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu177Pro	rs749108158	missense variant	-	NC_000015.10:g.74722568A>G	ExAC,gnomAD
CYP1A1	P04798	p.Ala179Thr	rs1010294667	missense variant	-	NC_000015.10:g.74722563C>T	TOPMed
CYP1A1	P04798	p.Gly180Arg	rs775144476	missense variant	-	NC_000015.10:g.74722560C>T	ExAC,gnomAD
CYP1A1	P04798	p.Pro181Ser	rs1368696580	missense variant	-	NC_000015.10:g.74722557G>A	TOPMed
CYP1A1	P04798	p.Asn185Lys	rs140459785	missense variant	-	NC_000015.10:g.74722543G>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn185His	rs1440157905	missense variant	-	NC_000015.10:g.74722545T>G	TOPMed
CYP1A1	P04798	p.Asn185Lys	rs140459785	missense variant	-	NC_000015.10:g.74722543G>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr189Cys	rs756867720	missense variant	-	NC_000015.10:g.74722532T>C	ExAC,gnomAD
CYP1A1	P04798	p.Val190Met	rs748723967	missense variant	-	NC_000015.10:g.74722530C>T	ExAC,gnomAD
CYP1A1	P04798	p.Val191Leu	rs1390189513	missense variant	-	NC_000015.10:g.74722527C>A	gnomAD
CYP1A1	P04798	p.Val194Met	rs1397957205	missense variant	-	NC_000015.10:g.74722518C>T	gnomAD
CYP1A1	P04798	p.Asn196Asp	rs151244239	missense variant	-	NC_000015.10:g.74722512T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn196Ser	rs754164711	missense variant	-	NC_000015.10:g.74722511T>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala200Val	rs1019779925	missense variant	-	NC_000015.10:g.74722499G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Cys202Gly	rs1271737642	missense variant	-	NC_000015.10:g.74722494A>C	TOPMed
CYP1A1	P04798	p.Gly204Val	rs142255433	missense variant	-	NC_000015.10:g.74722487C>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Gly204Asp	rs142255433	missense variant	-	NC_000015.10:g.74722487C>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Gly204Cys	rs1444999283	missense variant	-	NC_000015.10:g.74722488C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Gly204Ala	rs142255433	missense variant	-	NC_000015.10:g.74722487C>G	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Arg205Gln	rs199734551	missense variant	-	NC_000015.10:g.74722484C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg205Trp	rs201182659	missense variant	-	NC_000015.10:g.74722485G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg206Ser	rs200600221	missense variant	-	NC_000015.10:g.74722482G>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg206His	rs371913955	missense variant	-	NC_000015.10:g.74722481C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg206Cys	rs200600221	missense variant	-	NC_000015.10:g.74722482G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr207Asp	rs763947897	missense variant	-	NC_000015.10:g.74722479A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His209Arg	rs957986566	missense variant	-	NC_000015.10:g.74722472T>C	gnomAD
CYP1A1	P04798	p.His209Gln	rs1225064153	missense variant	-	NC_000015.10:g.74722471G>T	gnomAD
CYP1A1	P04798	p.His209Asn	rs148803099	missense variant	-	NC_000015.10:g.74722473G>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.His211Tyr	rs775173815	missense variant	-	NC_000015.10:g.74722467G>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu213Lys	rs1373798119	missense variant	-	NC_000015.10:g.74722461C>T	TOPMed
CYP1A1	P04798	p.Leu214Val	rs577523247	missense variant	-	NC_000015.10:g.74722458G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser216Cys	rs146622566	missense variant	-	NC_000015.10:g.74722452T>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser216Gly	rs146622566	missense variant	-	NC_000015.10:g.74722452T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn219Lys	rs746521944	missense variant	-	NC_000015.10:g.74722441G>T	ExAC,gnomAD
CYP1A1	P04798	p.Asn222Ser	rs779416051	missense variant	-	NC_000015.10:g.74722433T>C	ExAC,gnomAD
CYP1A1	P04798	p.Phe224Ser	rs1373130092	missense variant	-	NC_000015.10:g.74722427A>G	TOPMed
CYP1A1	P04798	p.Gly225Arg	rs373858916	missense variant	-	NC_000015.10:g.74722425C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly225Trp	rs373858916	missense variant	-	NC_000015.10:g.74722425C>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly225Arg	rs373858916	missense variant	-	NC_000015.10:g.74722425C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu226Ter	rs1156611786	stop gained	-	NC_000015.10:g.74722422C>A	gnomAD
CYP1A1	P04798	p.Val228Ala	rs1229226590	missense variant	-	NC_000015.10:g.74722415A>G	TOPMed
CYP1A1	P04798	p.Val228Phe	rs1198650373	missense variant	-	NC_000015.10:g.74722416C>A	gnomAD
CYP1A1	P04798	p.Gly229Ser	rs1291794157	missense variant	-	NC_000015.10:g.74722413C>T	TOPMed
CYP1A1	P04798	p.Pro233Gln	rs767797064	missense variant	-	NC_000015.10:g.74722400G>T	ExAC,gnomAD
CYP1A1	P04798	p.Pro233Arg	rs767797064	missense variant	-	NC_000015.10:g.74722400G>C	ExAC,gnomAD
CYP1A1	P04798	p.Asp235His	rs757263296	missense variant	-	NC_000015.10:g.74722395C>G	ExAC,gnomAD
CYP1A1	P04798	p.Asp235Ala	rs751608165	missense variant	-	NC_000015.10:g.74722394T>G	ExAC,gnomAD
CYP1A1	P04798	p.Ile237Asn	rs1275539251	missense variant	-	NC_000015.10:g.74722388A>T	TOPMed
CYP1A1	P04798	p.Pro238Ser	rs61747605	missense variant	-	NC_000015.10:g.74722386G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu240Pro	rs1204631621	missense variant	-	NC_000015.10:g.74722379A>G	TOPMed
CYP1A1	P04798	p.Arg241His	rs1284649326	missense variant	-	NC_000015.10:g.74722376C>T	gnomAD
CYP1A1	P04798	p.Arg241Cys	rs149687459	missense variant	-	NC_000015.10:g.74722377G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg241Leu	rs1284649326	missense variant	-	NC_000015.10:g.74722376C>A	gnomAD
CYP1A1	P04798	p.Leu243Pro	rs759464355	missense variant	-	NC_000015.10:g.74722370A>G	ExAC,gnomAD
CYP1A1	P04798	p.Leu243Arg	rs759464355	missense variant	-	NC_000015.10:g.74722370A>C	ExAC,gnomAD
CYP1A1	P04798	p.Leu243Gln	rs759464355	missense variant	-	NC_000015.10:g.74722370A>T	ExAC,gnomAD
CYP1A1	P04798	p.Pro244Ala	rs1402199384	missense variant	-	NC_000015.10:g.74722368G>C	gnomAD
CYP1A1	P04798	p.Asn245Lys	rs770718854	missense variant	-	NC_000015.10:g.74722363G>C	ExAC,gnomAD
CYP1A1	P04798	p.Asn245Asp	rs555078861	missense variant	-	NC_000015.10:g.74722365T>C	1000Genomes,ExAC,TOPMed
CYP1A1	P04798	p.Asn245Lys	rs770718854	missense variant	-	NC_000015.10:g.74722363G>T	ExAC,gnomAD
CYP1A1	P04798	p.Pro246Ala	rs760213300	missense variant	-	NC_000015.10:g.74722362G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro246Ser	rs760213300	missense variant	-	NC_000015.10:g.74722362G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu248Pro	rs374229319	missense variant	-	NC_000015.10:g.74722355A>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn249Ser	rs771648532	missense variant	-	NC_000015.10:g.74722352T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn249Ile	rs771648532	missense variant	-	NC_000015.10:g.74722352T>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn249Lys	rs749731774	missense variant	-	NC_000015.10:g.74722351A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe251Val	rs780666450	missense variant	-	NC_000015.10:g.74722347A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys252Gln	rs1469734683	missense variant	-	NC_000015.10:g.74722344T>G	gnomAD
CYP1A1	P04798	p.Asn255Lys	rs770136721	missense variant	-	NC_000015.10:g.74722333A>T	ExAC,gnomAD
CYP1A1	P04798	p.Glu256Lys	rs746238922	missense variant	-	NC_000015.10:g.74722332C>T	ExAC
CYP1A1	P04798	p.Tyr259His	rs1287768171	missense variant	-	NC_000015.10:g.74722323A>G	TOPMed
CYP1A1	P04798	p.Tyr259Cys	rs1249069839	missense variant	-	NC_000015.10:g.74722322T>C	gnomAD
CYP1A1	P04798	p.Phe261Leu	rs781336696	missense variant	-	NC_000015.10:g.74722315G>T	ExAC,gnomAD
CYP1A1	P04798	p.Phe261Ile	rs1203516220	missense variant	-	NC_000015.10:g.74722317A>T	gnomAD
CYP1A1	P04798	p.Met262Ile	rs1401425776	missense variant	-	NC_000015.10:g.74722312C>T	TOPMed
CYP1A1	P04798	p.Met262Leu	rs757497550	missense variant	-	NC_000015.10:g.74722314T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met262Val	rs757497550	missense variant	-	NC_000015.10:g.74722314T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys264Asn	rs139496485	missense variant	-	NC_000015.10:g.74722306C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met265Arg	rs758554936	missense variant	-	NC_000015.10:g.74722304A>C	ExAC,gnomAD
CYP1A1	P04798	p.Met265Val	rs150514993	missense variant	-	NC_000015.10:g.74722305T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu268Ter	rs765333534	stop gained	-	NC_000015.10:g.74722296C>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu268Lys	rs765333534	missense variant	-	NC_000015.10:g.74722296C>T	ExAC,gnomAD
CYP1A1	P04798	p.His269Asn	rs759345870	missense variant	-	NC_000015.10:g.74722293G>T	ExAC,gnomAD
CYP1A1	P04798	p.Phe273Leu	rs1286606165	missense variant	-	NC_000015.10:g.74722279A>C	gnomAD
CYP1A1	P04798	p.Lys275Glu	rs766089505	missense variant	-	NC_000015.10:g.74722275T>C	ExAC,gnomAD
CYP1A1	P04798	p.Arg279Gly	rs34260157	missense variant	-	NC_000015.10:g.74721708G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg279Gln	rs766251992	missense variant	-	NC_000015.10:g.74721707C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg279Trp	rs34260157	missense variant	-	NC_000015.10:g.74721708G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile281Val	rs750037230	missense variant	-	NC_000015.10:g.74721702T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp283Asn	rs1160841995	missense variant	-	NC_000015.10:g.74721696C>T	gnomAD
CYP1A1	P04798	p.Ser284Asn	rs755815189	missense variant	-	NC_000015.10:g.74721692C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser284Gly	rs1230613013	missense variant	-	NC_000015.10:g.74721693T>C	gnomAD
CYP1A1	P04798	p.Leu285Pro	rs761173802	missense variant	-	NC_000015.10:g.74721689A>G	ExAC
CYP1A1	P04798	p.Ile286Thr	rs4987133	missense variant	-	NC_000015.10:g.74721686A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln290Ter	rs767529575	stop gained	-	NC_000015.10:g.74721675G>A	gnomAD
CYP1A1	P04798	p.Glu291Ter	rs765698121	stop gained	-	NC_000015.10:g.74721672C>A	ExAC,gnomAD
CYP1A1	P04798	p.Lys292Thr	rs760009642	missense variant	-	NC_000015.10:g.74721668T>G	ExAC,gnomAD
CYP1A1	P04798	p.Gln293Glu	rs1356947897	missense variant	-	NC_000015.10:g.74721666G>C	TOPMed
CYP1A1	P04798	p.Gln293His	rs369522545	missense variant	-	NC_000015.10:g.74721664C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu296Lys	rs1371300497	missense variant	-	NC_000015.10:g.74721657C>T	gnomAD
CYP1A1	P04798	p.Glu296Asp	rs1407021428	missense variant	-	NC_000015.10:g.74721655C>G	gnomAD
CYP1A1	P04798	p.Asn299Ser	rs747475208	missense variant	-	NC_000015.10:g.74721647T>C	ExAC,gnomAD
CYP1A1	P04798	p.Gln301Ter	rs576054856	stop gained	-	NC_000015.10:g.74721642G>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Ser303Leu	rs1185021586	missense variant	-	NC_000015.10:g.74721635G>A	gnomAD
CYP1A1	P04798	p.Glu305Lys	rs779103951	missense variant	-	NC_000015.10:g.74721630C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys306Asn	rs755155099	missense variant	-	NC_000015.10:g.74721625C>A	ExAC,gnomAD
CYP1A1	P04798	p.Ile308Met	rs1489265730	missense variant	-	NC_000015.10:g.74721619A>C	gnomAD
CYP1A1	P04798	p.Ile308Val	rs1196754101	missense variant	-	NC_000015.10:g.74721621T>C	gnomAD
CYP1A1	P04798	p.Ile308Thr	rs1264808568	missense variant	-	NC_000015.10:g.74721620A>G	TOPMed
CYP1A1	P04798	p.Val311Ile	rs376586536	missense variant	-	NC_000015.10:g.74721612C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp313Gly	rs755794714	missense variant	-	NC_000015.10:g.74721605T>C	ExAC,gnomAD
CYP1A1	P04798	p.Leu314Pro	rs1282728081	missense variant	-	NC_000015.10:g.74721602A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Leu314Phe	rs750248838	missense variant	-	NC_000015.10:g.74721603G>A	ExAC,gnomAD
CYP1A1	P04798	p.Phe315Cys	rs756969439	missense variant	-	NC_000015.10:g.74721599A>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala317Val	rs751256789	missense variant	-	NC_000015.10:g.74721593G>A	ExAC,gnomAD
CYP1A1	P04798	p.Gly318Arg	rs373178275	missense variant	-	NC_000015.10:g.74721591C>T	ESP,ExAC,TOPMed
CYP1A1	P04798	p.Gly318Glu	rs745612512	missense variant	-	NC_000015.10:g.74721503C>T	ExAC,gnomAD
CYP1A1	P04798	p.Asp320Gly	rs781013981	missense variant	-	NC_000015.10:g.74721497T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr324Ala	rs757053417	missense variant	-	NC_000015.10:g.74721486T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr324Ser	rs751201537	missense variant	-	NC_000015.10:g.74721485G>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala325Ser	rs201691396	missense variant	-	NC_000015.10:g.74721483C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile326Val	rs757839494	missense variant	-	NC_000015.10:g.74721480T>C	ExAC,gnomAD
CYP1A1	P04798	p.Ser327Phe	rs369465868	missense variant	-	NC_000015.10:g.74721476G>A	ESP,TOPMed
CYP1A1	P04798	p.Ser329Asn	rs989474773	missense variant	-	NC_000015.10:g.74721470C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Ser329Arg	rs766754993	missense variant	-	NC_000015.10:g.74721469G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser329Arg	rs766754993	missense variant	-	NC_000015.10:g.74721469G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met331Ile	rs56313657	missense variant	-	NC_000015.10:g.74721463C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met331Ile	rs56313657	missense variant	-	NC_000015.10:g.74721463C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met331Lys	rs1393401095	missense variant	-	NC_000015.10:g.74721464A>T	TOPMed
CYP1A1	P04798	p.Val334Ala	rs767906777	missense variant	-	NC_000015.10:g.74721455A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val334Glu	rs767906777	missense variant	-	NC_000015.10:g.74721455A>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn336Ser	rs762331374	missense variant	-	NC_000015.10:g.74721449T>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro337Ser	rs1226899058	missense variant	-	NC_000015.10:g.74721447G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Gln340His	rs1340288097	missense variant	-	NC_000015.10:g.74721436C>G	TOPMed,gnomAD
CYP1A1	P04798	p.Arg341Lys	rs866536829	missense variant	-	NC_000015.10:g.74721434C>T	TOPMed
CYP1A1	P04798	p.Lys342Asn	rs199747074	missense variant	-	NC_000015.10:g.74721430C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys342Asn	rs199747074	missense variant	-	NC_000015.10:g.74721430C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile343Leu	rs763080902	missense variant	-	NC_000015.10:g.74721429T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln344His	rs775674343	missense variant	-	NC_000015.10:g.74721424T>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu345Ter	rs539280298	stop gained	-	NC_000015.10:g.74721423C>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Glu346Gly	rs781050138	missense variant	-	NC_000015.10:g.74721419T>C	ExAC,gnomAD
CYP1A1	P04798	p.Glu346Gln	rs986807524	missense variant	-	NC_000015.10:g.74721420C>G	TOPMed
CYP1A1	P04798	p.Leu347Pro	rs1372013152	missense variant	-	NC_000015.10:g.74721416A>G	gnomAD
CYP1A1	P04798	p.Thr349Lys	rs746759986	missense variant	-	NC_000015.10:g.74721319G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr349Ile	rs746759986	missense variant	-	NC_000015.10:g.74721319G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val350Ala	rs777511101	missense variant	-	NC_000015.10:g.74721316A>G	ExAC,gnomAD
CYP1A1	P04798	p.Ile351Thr	rs771902675	missense variant	-	NC_000015.10:g.74721313A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg353Gly	rs747822093	missense variant	-	NC_000015.10:g.74721308T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser354Ter	rs1049791270	stop gained	-	NC_000015.10:g.74721304G>T	gnomAD
CYP1A1	P04798	p.Ser354Ala	rs1211994116	missense variant	-	NC_000015.10:g.74721305A>C	gnomAD
CYP1A1	P04798	p.Arg355Trp	rs191792412	missense variant	-	NC_000015.10:g.74721302G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg355Gln	rs753298761	missense variant	-	NC_000015.10:g.74721301C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg356Gln	rs368650547	missense variant	-	NC_000015.10:g.74721298C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg356Trp	rs1351755997	missense variant	-	NC_000015.10:g.74721299G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Pro357Leu	rs148341881	missense variant	-	NC_000015.10:g.74721295G>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Arg358Trp	rs371074476	missense variant	-	NC_000015.10:g.74721293G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg358Gln	rs186168141	missense variant	-	NC_000015.10:g.74721292C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu359Phe	rs1269949096	missense variant	-	NC_000015.10:g.74721290G>A	TOPMed
CYP1A1	P04798	p.Arg362Ser	rs765383478	missense variant	-	NC_000015.10:g.74721279T>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg362Ile	rs200723875	missense variant	-	NC_000015.10:g.74721280C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser363Tyr	rs759604228	missense variant	-	NC_000015.10:g.74721277G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser363Phe	rs759604228	missense variant	-	NC_000015.10:g.74721277G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His364Gln	rs1414207354	missense variant	-	NC_000015.10:g.74721273A>C	gnomAD
CYP1A1	P04798	p.Tyr367Cys	rs776598021	missense variant	-	NC_000015.10:g.74721265T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met368Leu	rs766484540	missense variant	-	NC_000015.10:g.74721263T>A	ExAC,gnomAD
CYP1A1	P04798	p.Met368Val	rs766484540	missense variant	-	NC_000015.10:g.74721263T>C	ExAC,gnomAD
CYP1A1	P04798	p.Glu369Asp	rs760582221	missense variant	-	NC_000015.10:g.74721258C>G	ExAC,gnomAD
CYP1A1	P04798	p.Glu369Gln	rs1201337188	missense variant	-	NC_000015.10:g.74721260C>G	gnomAD
CYP1A1	P04798	p.Ala370Val	rs1261508980	missense variant	-	NC_000015.10:g.74721256G>A	gnomAD
CYP1A1	P04798	p.Phe371Tyr	rs375093189	missense variant	-	NC_000015.10:g.74721253A>T	ESP,ExAC
CYP1A1	P04798	p.Ile372Ser	rs771849645	missense variant	-	NC_000015.10:g.74721250A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu373Pro	rs747896348	missense variant	-	NC_000015.10:g.74721247A>G	ExAC,gnomAD
CYP1A1	P04798	p.Glu374Gly	rs1269397584	missense variant	-	NC_000015.10:g.74721244T>C	gnomAD
CYP1A1	P04798	p.Thr375Asn	rs905657710	missense variant	-	NC_000015.10:g.74721241G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Thr375Ile	rs905657710	missense variant	-	NC_000015.10:g.74721241G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Phe376Tyr	rs1276203155	missense variant	-	NC_000015.10:g.74721238A>T	gnomAD
CYP1A1	P04798	p.Arg377Gln	rs201174966	missense variant	-	NC_000015.10:g.74721235C>T	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Arg377Ter	rs768212140	stop gained	-	NC_000015.10:g.74721236G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser380Phe	rs1389276967	missense variant	-	NC_000015.10:g.74721226G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Ser380Ala	rs779682021	missense variant	-	NC_000015.10:g.74721227A>C	ExAC,gnomAD
CYP1A1	P04798	p.Phe381Leu	rs2856833	missense variant	-	NC_000015.10:g.74721222G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Phe381Leu	rs2856833	missense variant	-	NC_000015.10:g.74721222G>C	TOPMed,gnomAD
CYP1A1	P04798	p.Val382Ala	rs1174492608	missense variant	-	NC_000015.10:g.74721220A>G	gnomAD
CYP1A1	P04798	p.Val382Ile	rs201651069	missense variant	-	NC_000015.10:g.74721221C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro383Leu	rs778494829	missense variant	-	NC_000015.10:g.74721217G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro383His	rs778494829	missense variant	-	NC_000015.10:g.74721217G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro383Ser	rs947102105	missense variant	-	NC_000015.10:g.74721218G>A	TOPMed
CYP1A1	P04798	p.Ile386Ser	rs1187061906	missense variant	-	NC_000015.10:g.74721208A>C	TOPMed,gnomAD
CYP1A1	P04798	p.Ile386Val	rs367605080	missense variant	-	NC_000015.10:g.74721209T>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro387Leu	rs988977632	missense variant	-	NC_000015.10:g.74721205G>A	TOPMed
CYP1A1	P04798	p.His388Pro	rs765452772	missense variant	-	NC_000015.10:g.74721202T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His388Arg	rs765452772	missense variant	-	NC_000015.10:g.74721202T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser389Gly	rs1203612160	missense variant	-	NC_000015.10:g.74721200T>C	gnomAD
CYP1A1	P04798	p.Ser389Arg	rs748507253	missense variant	-	NC_000015.10:g.74721053G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr391Ala	rs1035607364	missense variant	-	NC_000015.10:g.74721049T>C	TOPMed
CYP1A1	P04798	p.Arg392Gly	rs1275923224	missense variant	-	NC_000015.10:g.74721046T>C	TOPMed,gnomAD
CYP1A1	P04798	p.Asp393Val	rs762064937	missense variant	-	NC_000015.10:g.74721042T>A	gnomAD
CYP1A1	P04798	p.Asp393Ala	rs762064937	missense variant	-	NC_000015.10:g.74721042T>G	gnomAD
CYP1A1	P04798	p.Asp393Asn	rs1380427518	missense variant	-	NC_000015.10:g.74721043C>T	TOPMed
CYP1A1	P04798	p.Thr394Ala	rs1421103263	missense variant	-	NC_000015.10:g.74721040T>C	TOPMed
CYP1A1	P04798	p.Thr394Arg	rs779123202	missense variant	-	NC_000015.10:g.74721039G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu396Val	rs755427562	missense variant	-	NC_000015.10:g.74721034A>C	ExAC,gnomAD
CYP1A1	P04798	p.Tyr400His	rs1008131147	missense variant	-	NC_000015.10:g.74721022A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Ile401Asn	rs1432826390	missense variant	-	NC_000015.10:g.74721018A>T	gnomAD
CYP1A1	P04798	p.Ile401Leu	rs777186546	missense variant	-	NC_000015.10:g.74721019T>G	TOPMed
CYP1A1	P04798	p.Gly404Glu	rs754054915	missense variant	-	NC_000015.10:g.74721009C>T	ExAC
CYP1A1	P04798	p.Arg405Ser	rs1171289597	missense variant	-	NC_000015.10:g.74721007G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Arg405Cys	rs1171289597	missense variant	-	NC_000015.10:g.74721007G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg405His	rs56127934	missense variant	-	NC_000015.10:g.74721006C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Cys406Tyr	rs750520977	missense variant	-	NC_000015.10:g.74721003C>T	ExAC,gnomAD
CYP1A1	P04798	p.Val407Asp	rs1471948876	missense variant	-	NC_000015.10:g.74721000A>T	gnomAD
CYP1A1	P04798	p.Gln411His	rs1183810110	missense variant	-	NC_000015.10:g.74720987C>A	gnomAD
CYP1A1	P04798	p.Gln411Pro	rs767446337	missense variant	-	NC_000015.10:g.74720988T>G	ExAC,gnomAD
CYP1A1	P04798	p.Trp412Arg	rs377421606	missense variant	-	NC_000015.10:g.74720986A>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Trp412Ter	rs1264551753	stop gained	-	NC_000015.10:g.74720985C>T	gnomAD
CYP1A1	P04798	p.Ile414Thr	rs201265044	missense variant	-	NC_000015.10:g.74720979A>G	1000Genomes
CYP1A1	P04798	p.Ile414Val	rs751567451	missense variant	-	NC_000015.10:g.74720980T>C	ExAC,gnomAD
CYP1A1	P04798	p.Asn415Ile	rs762876189	missense variant	-	NC_000015.10:g.74720976T>A	ExAC,gnomAD
CYP1A1	P04798	p.Asn415Thr	rs762876189	missense variant	-	NC_000015.10:g.74720976T>G	ExAC,gnomAD
CYP1A1	P04798	p.His416Gln	rs1379156959	missense variant	-	NC_000015.10:g.74720972A>T	TOPMed
CYP1A1	P04798	p.His416Asn	rs1290445836	missense variant	-	NC_000015.10:g.74720974G>T	gnomAD
CYP1A1	P04798	p.Asp417Asn	rs1190346566	missense variant	-	NC_000015.10:g.74720971C>T	gnomAD
CYP1A1	P04798	p.Lys419Glu	rs138804663	missense variant	-	NC_000015.10:g.74720773T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Trp421Cys	rs578124762	missense variant	-	NC_000015.10:g.74720765C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val422Ile	rs770339773	missense variant	-	NC_000015.10:g.74720764C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val422Ala	rs1245678102	missense variant	-	NC_000015.10:g.74720763A>G	TOPMed
CYP1A1	P04798	p.Pro424Thr	rs774658772	missense variant	-	NC_000015.10:g.74720758G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro424Leu	rs769227467	missense variant	-	NC_000015.10:g.74720757G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu426Gly	rs1300396052	missense variant	-	NC_000015.10:g.74720751T>C	gnomAD
CYP1A1	P04798	p.Arg431Trp	rs770191780	missense variant	-	NC_000015.10:g.74720737G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg431Gln	rs746078945	missense variant	-	NC_000015.10:g.74720736C>T	ExAC,gnomAD
CYP1A1	P04798	p.Asp436Val	rs1460389026	missense variant	-	NC_000015.10:g.74720721T>A	TOPMed
CYP1A1	P04798	p.Ile439Val	rs781545021	missense variant	-	NC_000015.10:g.74720713T>C	ExAC,gnomAD
CYP1A1	P04798	p.Asp440Tyr	rs145198866	missense variant	-	NC_000015.10:g.74720710C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp440Val	rs758445411	missense variant	-	NC_000015.10:g.74720709T>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp440Asn	rs145198866	missense variant	-	NC_000015.10:g.74720710C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys441Arg	rs752724213	missense variant	-	NC_000015.10:g.74720706T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val442Gly	rs1292499417	missense variant	-	NC_000015.10:g.74720703A>C	gnomAD
CYP1A1	P04798	p.ValLeuSerGlu442ValLeuSerValLysTerUnk	rs1319890121	stop gained	-	NC_000015.10:g.74720704_74720705insTTAACAC	TOPMed
CYP1A1	P04798	p.Glu445Asp	rs1226579512	missense variant	-	NC_000015.10:g.74720693C>G	TOPMed
CYP1A1	P04798	p.Val447Leu	rs754884581	missense variant	-	NC_000015.10:g.74720689C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val447Met	rs754884581	missense variant	-	NC_000015.10:g.74720689C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile448Asn	rs72547509	missense variant	-	NC_000015.10:g.74720685A>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile448Thr	rs72547509	missense variant	-	NC_000015.10:g.74720685A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile449Phe	rs760050326	missense variant	-	NC_000015.10:g.74720683T>A	ExAC,gnomAD
CYP1A1	P04798	p.Ile449Asn	rs955318319	missense variant	-	NC_000015.10:g.74720682A>T	TOPMed,gnomAD
CYP1A1	P04798	p.Gly451Val	rs772810680	missense variant	-	NC_000015.10:g.74720676C>A	ExAC,gnomAD
CYP1A1	P04798	p.Met452Thr	rs1379298245	missense variant	-	NC_000015.10:g.74720673A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Met452Ile	rs767053022	missense variant	-	NC_000015.10:g.74720672C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gly453Arg	rs763427692	missense variant	-	NC_000015.10:g.74720671C>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys454Asn	rs369745647	missense variant	-	NC_000015.10:g.74720666C>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg455Gln	rs180744198	missense variant	-	NC_000015.10:g.74720664C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg455Trp	rs770140945	missense variant	-	NC_000015.10:g.74720665G>A	ExAC,gnomAD
CYP1A1	P04798	p.Cys457Tyr	rs776659416	missense variant	-	NC_000015.10:g.74720658C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Cys457Phe	rs776659416	missense variant	-	NC_000015.10:g.74720658C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly459Ser	rs371662141	missense variant	-	NC_000015.10:g.74720653C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr461Ile	rs1799814	missense variant	-	NC_000015.10:g.74720646G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr461Asn	rs1799814	missense variant	-	NC_000015.10:g.74720646G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr461Asn	rs1799814	missense variant	-	NC_000015.10:g.74720646G>T	UniProt,dbSNP
CYP1A1	P04798	p.Thr461Asn	VAR_008342	missense variant	-	NC_000015.10:g.74720646G>T	UniProt
CYP1A1	P04798	p.Ile462Thr	rs752537968	missense variant	-	NC_000015.10:g.74720643A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Leu	rs1048943	missense variant	-	NC_000015.10:g.74720644T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Val	rs1048943	missense variant	-	NC_000015.10:g.74720644T>C	UniProt,dbSNP
CYP1A1	P04798	p.Ile462Val	VAR_001243	missense variant	-	NC_000015.10:g.74720644T>C	UniProt
CYP1A1	P04798	p.Ile462Val	rs1048943	missense variant	-	NC_000015.10:g.74720644T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Phe	rs1048943	missense variant	-	NC_000015.10:g.74720644T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Asn	rs752537968	missense variant	-	NC_000015.10:g.74720643A>T	TOPMed,gnomAD
CYP1A1	P04798	p.Ala463Thr	rs141177861	missense variant	-	NC_000015.10:g.74720641C>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Ala463Ser	rs141177861	missense variant	-	NC_000015.10:g.74720641C>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Ala463Val	rs2278970	missense variant	-	NC_000015.10:g.74720640G>A	ExAC,gnomAD
CYP1A1	P04798	p.Ala463Gly	rs2278970	missense variant	-	NC_000015.10:g.74720640G>C	ExAC,gnomAD
CYP1A1	P04798	p.Arg464Ser	rs41279188	missense variant	-	NC_000015.10:g.74720638G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg464Ser	rs41279188	missense variant	-	NC_000015.10:g.74720638G>T	UniProt,dbSNP
CYP1A1	P04798	p.Arg464Ser	VAR_016940	missense variant	-	NC_000015.10:g.74720638G>T	UniProt
CYP1A1	P04798	p.Arg464His	rs1014488188	missense variant	-	NC_000015.10:g.74720637C>T	gnomAD
CYP1A1	P04798	p.Arg464Cys	rs41279188	missense variant	-	NC_000015.10:g.74720638G>A	UniProt,dbSNP
CYP1A1	P04798	p.Arg464Cys	VAR_016939	missense variant	-	NC_000015.10:g.74720638G>A	UniProt
CYP1A1	P04798	p.Arg464Cys	rs41279188	missense variant	-	NC_000015.10:g.74720638G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu466Lys	rs750089998	missense variant	-	NC_000015.10:g.74720632C>T	ExAC,gnomAD
CYP1A1	P04798	p.Phe470Tyr	rs761381484	missense variant	-	NC_000015.10:g.74720619A>T	ExAC,gnomAD
CYP1A1	P04798	p.Phe470Val	rs36121583	missense variant	-	NC_000015.10:g.74720620A>C	-
CYP1A1	P04798	p.Phe470Val	rs36121583	missense variant	-	NC_000015.10:g.74720620A>C	UniProt,dbSNP
CYP1A1	P04798	p.Phe470Val	VAR_033818	missense variant	-	NC_000015.10:g.74720620A>C	UniProt
CYP1A1	P04798	p.Ile473Asn	rs1411228732	missense variant	-	NC_000015.10:g.74720610A>T	gnomAD
CYP1A1	P04798	p.Leu474Pro	rs147634852	missense variant	-	NC_000015.10:g.74720607A>G	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Leu475Pro	rs1471673167	missense variant	-	NC_000015.10:g.74720604A>G	gnomAD
CYP1A1	P04798	p.Gln476Glu	rs759771555	missense variant	-	NC_000015.10:g.74720602G>C	ExAC,gnomAD
CYP1A1	P04798	p.Arg477Gln	rs140680363	missense variant	-	NC_000015.10:g.74720598C>T	ESP,TOPMed,gnomAD
CYP1A1	P04798	p.Arg477Trp	rs56240201	missense variant	-	NC_000015.10:g.74720599G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg477Trp	rs56240201	missense variant	-	NC_000015.10:g.74720599G>A	UniProt,dbSNP
CYP1A1	P04798	p.Arg477Trp	VAR_016941	missense variant	-	NC_000015.10:g.74720599G>A	UniProt
CYP1A1	P04798	p.Arg477Gly	rs56240201	missense variant	-	NC_000015.10:g.74720599G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val478Met	rs771243368	missense variant	-	NC_000015.10:g.74720596C>T	ExAC,gnomAD
CYP1A1	P04798	p.Glu479Val	rs773629149	missense variant	-	NC_000015.10:g.74720592T>A	ExAC,gnomAD
CYP1A1	P04798	p.Ser481Gly	rs1226008882	missense variant	-	NC_000015.10:g.74720587T>C	gnomAD
CYP1A1	P04798	p.Ser481Thr	rs1330666981	missense variant	-	NC_000015.10:g.74720586C>G	gnomAD
CYP1A1	P04798	p.Val482Met	rs28399429	missense variant	-	NC_000015.10:g.74720584C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro483Ser	rs45500996	missense variant	-	NC_000015.10:g.74720581G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro483Thr	rs45500996	missense variant	-	NC_000015.10:g.74720581G>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly485Arg	rs1335138887	missense variant	-	NC_000015.10:g.74720575C>G	TOPMed,gnomAD
CYP1A1	P04798	p.Val486Glu	rs1318511924	missense variant	-	NC_000015.10:g.74720571A>T	gnomAD
CYP1A1	P04798	p.Val486Leu	rs749223641	missense variant	-	NC_000015.10:g.74720572C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val486Met	rs749223641	missense variant	-	NC_000015.10:g.74720572C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val488Met	rs779876388	missense variant	-	NC_000015.10:g.74720566C>T	ExAC,gnomAD
CYP1A1	P04798	p.Asp489Ala	rs1318518361	missense variant	-	NC_000015.10:g.74720562T>G	gnomAD
CYP1A1	P04798	p.Asp489Tyr	rs1387269151	missense variant	-	NC_000015.10:g.74720563C>A	gnomAD
CYP1A1	P04798	p.Thr491Asn	rs755919617	missense variant	-	NC_000015.10:g.74720556G>T	ExAC
CYP1A1	P04798	p.Thr491Ala	rs1376199019	missense variant	-	NC_000015.10:g.74720557T>C	gnomAD
CYP1A1	P04798	p.Pro492Arg	rs28399430	missense variant	-	NC_000015.10:g.74720553G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr494Cys	rs367604147	missense variant	-	NC_000015.10:g.74720547T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly495Trp	rs142388113	missense variant	-	NC_000015.10:g.74720545C>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr497Asn	rs1284361340	missense variant	-	NC_000015.10:g.74720538G>T	gnomAD
CYP1A1	P04798	p.Met498Thr	rs765698057	missense variant	-	NC_000015.10:g.74720535A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His500Leu	rs760061276	missense variant	-	NC_000015.10:g.74720529T>A	ExAC,gnomAD
CYP1A1	P04798	p.His500Asp	rs1342430592	missense variant	-	NC_000015.10:g.74720530G>C	gnomAD
CYP1A1	P04798	p.His500Tyr	rs1342430592	missense variant	-	NC_000015.10:g.74720530G>A	gnomAD
CYP1A1	P04798	p.Ala501Val	rs766755387	missense variant	-	NC_000015.10:g.74720526G>A	ExAC,gnomAD
CYP1A1	P04798	p.Cys503Arg	rs1279844744	missense variant	-	NC_000015.10:g.74720521A>G	TOPMed
CYP1A1	P04798	p.Cys503Ser	rs760948792	missense variant	-	NC_000015.10:g.74720520C>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Cys503Phe	rs760948792	missense variant	-	NC_000015.10:g.74720520C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe506Leu	rs1346984407	missense variant	-	NC_000015.10:g.74720512A>G	gnomAD
CYP1A1	P04798	p.Phe506Cys	rs1197263279	missense variant	-	NC_000015.10:g.74720511A>C	TOPMed
CYP1A1	P04798	p.Gln507Glu	rs772442747	missense variant	-	NC_000015.10:g.74720509G>C	ExAC,gnomAD
CYP1A1	P04798	p.Gln509Arg	rs1414047981	missense variant	-	NC_000015.10:g.74720502T>C	gnomAD
CYP1A1	P04798	p.Gln509His	rs1292016862	missense variant	-	NC_000015.10:g.74720501C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg511His	rs56343424	missense variant	-	NC_000015.10:g.74720496C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg511Leu	rs56343424	missense variant	-	NC_000015.10:g.74720496C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg511Cys	rs148638069	missense variant	-	NC_000015.10:g.74720497G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu2Arg	rs1176559692	missense variant	-	NC_000015.10:g.74723093A>C	TOPMed,gnomAD
CYP1A1	P04798	p.Ile5Val	rs757606619	missense variant	-	NC_000015.10:g.74723085T>C	ExAC,gnomAD
CYP1A1	P04798	p.Ile5Asn	rs560039501	missense variant	-	NC_000015.10:g.74723084A>T	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Met7Val	rs777905948	missense variant	-	NC_000015.10:g.74723079T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met7Thr	rs758562697	missense variant	-	NC_000015.10:g.74723078A>G	ExAC,gnomAD
CYP1A1	P04798	p.Ser8Leu	rs148505285	missense variant	-	NC_000015.10:g.74723075G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala9Val	rs755133321	missense variant	-	NC_000015.10:g.74723072G>A	ExAC,gnomAD
CYP1A1	P04798	p.Thr10Met	rs753812224	missense variant	-	NC_000015.10:g.74723069G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr10Arg	rs753812224	missense variant	-	NC_000015.10:g.74723069G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe19Leu	rs750252519	missense variant	-	NC_000015.10:g.74723041G>T	ExAC,gnomAD
CYP1A1	P04798	p.Cys20Arg	rs767145702	missense variant	-	NC_000015.10:g.74723040A>G	ExAC,gnomAD
CYP1A1	P04798	p.Cys20Phe	rs1164944044	missense variant	-	NC_000015.10:g.74723039C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Trp24Cys	rs145924908	missense variant	-	NC_000015.10:g.74723026C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Trp24Arg	rs774097027	missense variant	-	NC_000015.10:g.74723028A>G	ExAC,gnomAD
CYP1A1	P04798	p.Trp24Ter	rs375315082	stop gained	-	NC_000015.10:g.74723027C>T	gnomAD
CYP1A1	P04798	p.Trp24Ter	rs145924908	stop gained	-	NC_000015.10:g.74723026C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val25Ala	rs1198021323	missense variant	-	NC_000015.10:g.74723024A>G	gnomAD
CYP1A1	P04798	p.Arg27Lys	rs777119337	missense variant	-	NC_000015.10:g.74723018C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser29Pro	rs771432878	missense variant	-	NC_000015.10:g.74723013A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro31Arg	rs1490549680	missense variant	-	NC_000015.10:g.74723006G>C	gnomAD
CYP1A1	P04798	p.Gln32Ter	rs1285568419	stop gained	-	NC_000015.10:g.74723004G>A	gnomAD
CYP1A1	P04798	p.Val33Ile	rs747317438	missense variant	-	NC_000015.10:g.74723001C>T	ExAC,gnomAD
CYP1A1	P04798	p.Lys35Glu	rs1303275212	missense variant	-	NC_000015.10:g.74722995T>C	TOPMed
CYP1A1	P04798	p.Gly36Asp	rs1233083776	missense variant	-	NC_000015.10:g.74722991C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Leu37Pro	rs1236573643	missense variant	-	NC_000015.10:g.74722988A>G	TOPMed
CYP1A1	P04798	p.Gly42Arg	rs1305551656	missense variant	-	NC_000015.10:g.74722974C>G	gnomAD
CYP1A1	P04798	p.Pro43Thr	rs1359392428	missense variant	-	NC_000015.10:g.74722971G>T	gnomAD
CYP1A1	P04798	p.Trp44Arg	rs1402106037	missense variant	-	NC_000015.10:g.74722968A>T	TOPMed,gnomAD
CYP1A1	P04798	p.Trp44Leu	rs1408390236	missense variant	-	NC_000015.10:g.74722967C>A	gnomAD
CYP1A1	P04798	p.Gly45Arg	rs755005663	missense variant	-	NC_000015.10:g.74722965C>G	ExAC,gnomAD
CYP1A1	P04798	p.Gly45Asp	rs4646422	missense variant	-	NC_000015.10:g.74722964C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Trp46Cys	rs780078658	missense variant	-	NC_000015.10:g.74722960C>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro47His	rs756138124	missense variant	-	NC_000015.10:g.74722958G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro47Ser	rs1200137212	missense variant	-	NC_000015.10:g.74722959G>A	gnomAD
CYP1A1	P04798	p.Ile49Thr	rs565370983	missense variant	-	NC_000015.10:g.74722952A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile49Asn	rs565370983	missense variant	-	NC_000015.10:g.74722952A>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly50Glu	rs761719283	missense variant	-	NC_000015.10:g.74722949C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly50Arg	rs767189328	missense variant	-	NC_000015.10:g.74722950C>T	ExAC,gnomAD
CYP1A1	P04798	p.Met52Leu	rs1285714571	missense variant	-	NC_000015.10:g.74722944T>A	gnomAD
CYP1A1	P04798	p.Leu55Pro	rs1339216487	missense variant	-	NC_000015.10:g.74722934A>G	gnomAD
CYP1A1	P04798	p.Lys57Asn	rs762383674	missense variant	-	NC_000015.10:g.74722927C>A	ExAC,gnomAD
CYP1A1	P04798	p.Lys57Arg	rs913685889	missense variant	-	NC_000015.10:g.74722928T>C	TOPMed
CYP1A1	P04798	p.Pro59Leu	rs149846182	missense variant	-	NC_000015.10:g.74722922G>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Pro59Gln	rs149846182	missense variant	-	NC_000015.10:g.74722922G>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.His60Pro	rs761140013	missense variant	-	NC_000015.10:g.74722919T>G	ExAC,gnomAD
CYP1A1	P04798	p.Leu61Val	rs773817962	missense variant	-	NC_000015.10:g.74722917G>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala62Pro	rs143070677	missense variant	-	NC_000015.10:g.74722914C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala62Thr	rs143070677	missense variant	-	NC_000015.10:g.74722914C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu63Gln	rs1177040739	missense variant	-	NC_000015.10:g.74722910A>T	gnomAD
CYP1A1	P04798	p.Ser64Pro	rs1465057929	missense variant	-	NC_000015.10:g.74722908A>G	gnomAD
CYP1A1	P04798	p.Arg65Lys	rs1234721707	missense variant	-	NC_000015.10:g.74722904C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Met66Ile	rs778933231	missense variant	-	NC_000015.10:g.74722900C>T	ExAC,gnomAD
CYP1A1	P04798	p.Met66Val	rs35035798	missense variant	-	NC_000015.10:g.74722902T>C	UniProt,dbSNP
CYP1A1	P04798	p.Met66Val	VAR_033817	missense variant	-	NC_000015.10:g.74722902T>C	UniProt
CYP1A1	P04798	p.Met66Val	rs35035798	missense variant	-	NC_000015.10:g.74722902T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser67Arg	rs749328902	missense variant	-	NC_000015.10:g.74722897G>C	ExAC,gnomAD
CYP1A1	P04798	p.Ser67Asn	rs769009780	missense variant	-	NC_000015.10:g.74722898C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gln68Ter	rs1170746940	stop gained	-	NC_000015.10:g.74722896G>A	TOPMed
CYP1A1	P04798	p.Gln69Ter	rs572138243	stop gained	-	NC_000015.10:g.74722893G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln69His	rs1434738999	missense variant	-	NC_000015.10:g.74722891C>A	TOPMed
CYP1A1	P04798	p.Tyr70Cys	rs112517897	missense variant	-	NC_000015.10:g.74722889T>C	TOPMed,gnomAD
CYP1A1	P04798	p.Asp72Glu	rs139919943	missense variant	-	NC_000015.10:g.74722882G>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp72Asn	rs376399672	missense variant	-	NC_000015.10:g.74722884C>T	ESP
CYP1A1	P04798	p.Val73Met	rs373568981	missense variant	-	NC_000015.10:g.74722881C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val73Glu	rs1270201997	missense variant	-	NC_000015.10:g.74722880A>T	gnomAD
CYP1A1	P04798	p.Gln75Pro	rs554072118	missense variant	-	NC_000015.10:g.74722874T>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln75Arg	rs554072118	missense variant	-	NC_000015.10:g.74722874T>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg77Gln	rs1450069713	missense variant	-	NC_000015.10:g.74722868C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Arg77Ter	rs371190271	stop gained	-	NC_000015.10:g.74722869G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg77Leu	rs1450069713	missense variant	-	NC_000015.10:g.74722868C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Ile78Thr	rs17861094	missense variant	-	NC_000015.10:g.74722865A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly79Asp	rs1337155933	missense variant	-	NC_000015.10:g.74722862C>T	gnomAD
CYP1A1	P04798	p.Ser80Phe	rs373246855	missense variant	-	NC_000015.10:g.74722859G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr81Ile	rs138474634	missense variant	-	NC_000015.10:g.74722856G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro82Ser	rs537005466	missense variant	-	NC_000015.10:g.74722854G>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Val83Met	rs768956417	missense variant	-	NC_000015.10:g.74722851C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val84Met	rs1171054135	missense variant	-	NC_000015.10:g.74722848C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Leu86Val	rs1395693886	missense variant	-	NC_000015.10:g.74722842G>C	TOPMed
CYP1A1	P04798	p.Gly88Val	rs893613070	missense variant	-	NC_000015.10:g.74722835C>A	TOPMed
CYP1A1	P04798	p.Gly88Asp	rs893613070	missense variant	-	NC_000015.10:g.74722835C>T	TOPMed
CYP1A1	P04798	p.Gly88Ser	rs77425771	missense variant	-	NC_000015.10:g.74722836C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp90Gly	rs769983960	missense variant	-	NC_000015.10:g.74722829T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr91Ile	rs780925747	missense variant	-	NC_000015.10:g.74722826G>A	ExAC,gnomAD
CYP1A1	P04798	p.Thr91Pro	rs746029569	missense variant	-	NC_000015.10:g.74722827T>G	ExAC,gnomAD
CYP1A1	P04798	p.Arg93Pro	rs45528935	missense variant	-	NC_000015.10:g.74722820C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg93Gln	rs45528935	missense variant	-	NC_000015.10:g.74722820C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg93Trp	rs2229150	missense variant	-	NC_000015.10:g.74722821G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg93Leu	rs45528935	missense variant	-	NC_000015.10:g.74722820C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln94Ter	rs758238061	stop gained	-	NC_000015.10:g.74722818G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala95Val	rs373137650	missense variant	-	NC_000015.10:g.74722814G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg98Gln	rs368952331	missense variant	-	NC_000015.10:g.74722805C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg98Trp	rs754416936	missense variant	-	NC_000015.10:g.74722806G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln99Ter	rs767860316	stop gained	-	NC_000015.10:g.74722803G>A	ExAC,gnomAD
CYP1A1	P04798	p.Gln99His	rs774756784	missense variant	-	NC_000015.10:g.74722801C>G	ExAC,gnomAD
CYP1A1	P04798	p.Gln99His	rs774756784	missense variant	-	NC_000015.10:g.74722801C>A	ExAC,gnomAD
CYP1A1	P04798	p.Gly100Asp	rs764534349	missense variant	-	NC_000015.10:g.74722799C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gly100Val	rs764534349	missense variant	-	NC_000015.10:g.74722799C>A	ExAC,gnomAD
CYP1A1	P04798	p.Asp101Glu	rs1243352948	missense variant	-	NC_000015.10:g.74722795A>T	TOPMed
CYP1A1	P04798	p.Asp101Asn	rs141173079	missense variant	-	NC_000015.10:g.74722797C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe103Val	rs548096213	missense variant	-	NC_000015.10:g.74722791A>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly105Asp	rs1239041357	missense variant	-	NC_000015.10:g.74722784C>T	gnomAD
CYP1A1	P04798	p.Arg106Leu	rs770734367	missense variant	-	NC_000015.10:g.74722781C>A	ExAC,TOPMed
CYP1A1	P04798	p.Arg106Trp	rs776797048	missense variant	-	NC_000015.10:g.74722782G>A	ExAC,TOPMed
CYP1A1	P04798	p.Arg106Gln	rs770734367	missense variant	-	NC_000015.10:g.74722781C>T	ExAC,TOPMed
CYP1A1	P04798	p.Pro107Thr	rs372306597	missense variant	-	NC_000015.10:g.74722779G>T	ESP,TOPMed
CYP1A1	P04798	p.Asp108Tyr	rs78901429	missense variant	-	NC_000015.10:g.74722776C>A	ExAC,TOPMed
CYP1A1	P04798	p.Asp108Ala	rs373368945	missense variant	-	NC_000015.10:g.74722775T>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp108Asn	rs78901429	missense variant	-	NC_000015.10:g.74722776C>T	ExAC,TOPMed
CYP1A1	P04798	p.Thr111Ala	rs778476792	missense variant	-	NC_000015.10:g.74722767T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr113Ser	rs1367571879	missense variant	-	NC_000015.10:g.74722761T>A	gnomAD
CYP1A1	P04798	p.Ile115Val	rs779581749	missense variant	-	NC_000015.10:g.74722755T>C	ExAC,gnomAD
CYP1A1	P04798	p.Gly118Asp	rs755633017	missense variant	-	NC_000015.10:g.74722745C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gln119Ter	rs1161738771	stop gained	-	NC_000015.10:g.74722743G>A	gnomAD
CYP1A1	P04798	p.Ser124Gly	rs752097572	missense variant	-	NC_000015.10:g.74722728T>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro125Thr	rs1197943157	missense variant	-	NC_000015.10:g.74722725G>T	gnomAD
CYP1A1	P04798	p.Asp126Gly	rs763346193	missense variant	-	NC_000015.10:g.74722721T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp126Glu	rs753126837	missense variant	-	NC_000015.10:g.74722720G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp126Ala	rs763346193	missense variant	-	NC_000015.10:g.74722721T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp126Asn	rs375219443	missense variant	-	NC_000015.10:g.74722722C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro129Ser	rs372197865	missense variant	-	NC_000015.10:g.74722713G>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Pro129Leu	rs776759251	missense variant	-	NC_000015.10:g.74722712G>A	ExAC,gnomAD
CYP1A1	P04798	p.Val130Gly	rs1180020677	missense variant	-	NC_000015.10:g.74722709A>C	TOPMed
CYP1A1	P04798	p.Val130Leu	rs985825465	missense variant	-	NC_000015.10:g.74722710C>G	TOPMed
CYP1A1	P04798	p.Trp131Ter	rs1281267216	stop gained	-	NC_000015.10:g.74722705C>T	gnomAD
CYP1A1	P04798	p.Ala132Pro	rs35196245	missense variant	-	NC_000015.10:g.74722704C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala133Pro	rs1347414882	missense variant	-	NC_000015.10:g.74722701C>G	gnomAD
CYP1A1	P04798	p.Arg134Ser	rs1284032649	missense variant	-	NC_000015.10:g.74722698G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Arg134Cys	rs1284032649	missense variant	-	NC_000015.10:g.74722698G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg134His	rs367709511	missense variant	-	NC_000015.10:g.74722697C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg135Gln	rs768371517	missense variant	-	NC_000015.10:g.74722694C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg135Trp	rs45442501	missense variant	-	NC_000015.10:g.74722695G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg136Cys	rs141291433	missense variant	-	NC_000015.10:g.74722692G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg136His	rs202201538	missense variant	-	NC_000015.10:g.74722691C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala138Thr	rs1429298968	missense variant	-	NC_000015.10:g.74722686C>T	gnomAD
CYP1A1	P04798	p.Ser144Arg	rs755649144	missense variant	-	NC_000015.10:g.74722668T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe145Leu	rs1281168233	missense variant	-	NC_000015.10:g.74722665A>G	TOPMed
CYP1A1	P04798	p.Ile147Val	rs960353942	missense variant	-	NC_000015.10:g.74722659T>C	TOPMed
CYP1A1	P04798	p.Ile147Thr	rs1232845213	missense variant	-	NC_000015.10:g.74722658A>G	TOPMed
CYP1A1	P04798	p.Ala148Val	rs749960160	missense variant	-	NC_000015.10:g.74722655G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser149Phe	rs1261043717	missense variant	-	NC_000015.10:g.74722652G>A	gnomAD
CYP1A1	P04798	p.Ser149Pro	rs1460688001	missense variant	-	NC_000015.10:g.74722653A>G	gnomAD
CYP1A1	P04798	p.Ser153Phe	rs1324187291	missense variant	-	NC_000015.10:g.74722640G>A	gnomAD
CYP1A1	P04798	p.Thr155Ala	rs1256600881	missense variant	-	NC_000015.10:g.74722635T>C	gnomAD
CYP1A1	P04798	p.Cys157Tyr	rs1349585864	missense variant	-	NC_000015.10:g.74722628C>T	TOPMed
CYP1A1	P04798	p.Leu159Pro	rs1193768005	missense variant	-	NC_000015.10:g.74722622A>G	TOPMed
CYP1A1	P04798	p.Glu160Lys	rs758997626	missense variant	-	NC_000015.10:g.74722620C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu161Ala	rs202221673	missense variant	-	NC_000015.10:g.74722616T>G	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Glu161Gln	rs368890165	missense variant	-	NC_000015.10:g.74722617C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu161Lys	rs368890165	missense variant	-	NC_000015.10:g.74722617C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu161Gly	rs202221673	missense variant	-	NC_000015.10:g.74722616T>C	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.His162Arg	rs754086281	missense variant	-	NC_000015.10:g.74722613T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser164Asn	rs1251614582	missense variant	-	NC_000015.10:g.74722607C>T	TOPMed
CYP1A1	P04798	p.Lys165Asn	rs1167913201	missense variant	-	NC_000015.10:g.74722603C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Ala167Gly	rs372215528	missense variant	-	NC_000015.10:g.74722598G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile171Lys	rs1170643113	missense variant	-	NC_000015.10:g.74722586A>T	gnomAD
CYP1A1	P04798	p.Thr173Arg	rs28399427	missense variant	-	NC_000015.10:g.74722580G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr173Met	rs28399427	missense variant	-	NC_000015.10:g.74722580G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu177Pro	rs749108158	missense variant	-	NC_000015.10:g.74722568A>G	ExAC,gnomAD
CYP1A1	P04798	p.Ala179Thr	rs1010294667	missense variant	-	NC_000015.10:g.74722563C>T	TOPMed
CYP1A1	P04798	p.Gly180Arg	rs775144476	missense variant	-	NC_000015.10:g.74722560C>T	ExAC,gnomAD
CYP1A1	P04798	p.Pro181Ser	rs1368696580	missense variant	-	NC_000015.10:g.74722557G>A	TOPMed
CYP1A1	P04798	p.Asn185Lys	rs140459785	missense variant	-	NC_000015.10:g.74722543G>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn185His	rs1440157905	missense variant	-	NC_000015.10:g.74722545T>G	TOPMed
CYP1A1	P04798	p.Asn185Lys	rs140459785	missense variant	-	NC_000015.10:g.74722543G>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr189Cys	rs756867720	missense variant	-	NC_000015.10:g.74722532T>C	ExAC,gnomAD
CYP1A1	P04798	p.Val190Met	rs748723967	missense variant	-	NC_000015.10:g.74722530C>T	ExAC,gnomAD
CYP1A1	P04798	p.Val191Leu	rs1390189513	missense variant	-	NC_000015.10:g.74722527C>A	gnomAD
CYP1A1	P04798	p.Val194Met	rs1397957205	missense variant	-	NC_000015.10:g.74722518C>T	gnomAD
CYP1A1	P04798	p.Asn196Ser	rs754164711	missense variant	-	NC_000015.10:g.74722511T>C	ExAC,gnomAD
CYP1A1	P04798	p.Asn196Asp	rs151244239	missense variant	-	NC_000015.10:g.74722512T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ala200Val	rs1019779925	missense variant	-	NC_000015.10:g.74722499G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Cys202Gly	rs1271737642	missense variant	-	NC_000015.10:g.74722494A>C	TOPMed
CYP1A1	P04798	p.Gly204Ala	rs142255433	missense variant	-	NC_000015.10:g.74722487C>G	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Gly204Asp	rs142255433	missense variant	-	NC_000015.10:g.74722487C>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Gly204Cys	rs1444999283	missense variant	-	NC_000015.10:g.74722488C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Gly204Val	rs142255433	missense variant	-	NC_000015.10:g.74722487C>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Arg205Gln	rs199734551	missense variant	-	NC_000015.10:g.74722484C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg205Trp	rs201182659	missense variant	-	NC_000015.10:g.74722485G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg206His	rs371913955	missense variant	-	NC_000015.10:g.74722481C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg206Cys	rs200600221	missense variant	-	NC_000015.10:g.74722482G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg206Ser	rs200600221	missense variant	-	NC_000015.10:g.74722482G>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr207Asp	rs763947897	missense variant	-	NC_000015.10:g.74722479A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His209Gln	rs1225064153	missense variant	-	NC_000015.10:g.74722471G>T	gnomAD
CYP1A1	P04798	p.His209Asn	rs148803099	missense variant	-	NC_000015.10:g.74722473G>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.His209Arg	rs957986566	missense variant	-	NC_000015.10:g.74722472T>C	gnomAD
CYP1A1	P04798	p.His211Tyr	rs775173815	missense variant	-	NC_000015.10:g.74722467G>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu213Lys	rs1373798119	missense variant	-	NC_000015.10:g.74722461C>T	TOPMed
CYP1A1	P04798	p.Leu214Val	rs577523247	missense variant	-	NC_000015.10:g.74722458G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser216Gly	rs146622566	missense variant	-	NC_000015.10:g.74722452T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser216Cys	rs146622566	missense variant	-	NC_000015.10:g.74722452T>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn219Lys	rs746521944	missense variant	-	NC_000015.10:g.74722441G>T	ExAC,gnomAD
CYP1A1	P04798	p.Asn222Ser	rs779416051	missense variant	-	NC_000015.10:g.74722433T>C	ExAC,gnomAD
CYP1A1	P04798	p.Phe224Ser	rs1373130092	missense variant	-	NC_000015.10:g.74722427A>G	TOPMed
CYP1A1	P04798	p.Gly225Arg	rs373858916	missense variant	-	NC_000015.10:g.74722425C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly225Arg	rs373858916	missense variant	-	NC_000015.10:g.74722425C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly225Trp	rs373858916	missense variant	-	NC_000015.10:g.74722425C>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu226Ter	rs1156611786	stop gained	-	NC_000015.10:g.74722422C>A	gnomAD
CYP1A1	P04798	p.Val228Phe	rs1198650373	missense variant	-	NC_000015.10:g.74722416C>A	gnomAD
CYP1A1	P04798	p.Val228Ala	rs1229226590	missense variant	-	NC_000015.10:g.74722415A>G	TOPMed
CYP1A1	P04798	p.Gly229Ser	rs1291794157	missense variant	-	NC_000015.10:g.74722413C>T	TOPMed
CYP1A1	P04798	p.Pro233Arg	rs767797064	missense variant	-	NC_000015.10:g.74722400G>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro233Gln	rs767797064	missense variant	-	NC_000015.10:g.74722400G>T	ExAC,gnomAD
CYP1A1	P04798	p.Asp235Ala	rs751608165	missense variant	-	NC_000015.10:g.74722394T>G	ExAC,gnomAD
CYP1A1	P04798	p.Asp235His	rs757263296	missense variant	-	NC_000015.10:g.74722395C>G	ExAC,gnomAD
CYP1A1	P04798	p.Ile237Asn	rs1275539251	missense variant	-	NC_000015.10:g.74722388A>T	TOPMed
CYP1A1	P04798	p.Pro238Ser	rs61747605	missense variant	-	NC_000015.10:g.74722386G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu240Pro	rs1204631621	missense variant	-	NC_000015.10:g.74722379A>G	TOPMed
CYP1A1	P04798	p.Arg241Leu	rs1284649326	missense variant	-	NC_000015.10:g.74722376C>A	gnomAD
CYP1A1	P04798	p.Arg241Cys	rs149687459	missense variant	-	NC_000015.10:g.74722377G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg241His	rs1284649326	missense variant	-	NC_000015.10:g.74722376C>T	gnomAD
CYP1A1	P04798	p.Leu243Arg	rs759464355	missense variant	-	NC_000015.10:g.74722370A>C	ExAC,gnomAD
CYP1A1	P04798	p.Leu243Gln	rs759464355	missense variant	-	NC_000015.10:g.74722370A>T	ExAC,gnomAD
CYP1A1	P04798	p.Leu243Pro	rs759464355	missense variant	-	NC_000015.10:g.74722370A>G	ExAC,gnomAD
CYP1A1	P04798	p.Pro244Ala	rs1402199384	missense variant	-	NC_000015.10:g.74722368G>C	gnomAD
CYP1A1	P04798	p.Asn245Asp	rs555078861	missense variant	-	NC_000015.10:g.74722365T>C	1000Genomes,ExAC,TOPMed
CYP1A1	P04798	p.Asn245Lys	rs770718854	missense variant	-	NC_000015.10:g.74722363G>T	ExAC,gnomAD
CYP1A1	P04798	p.Asn245Lys	rs770718854	missense variant	-	NC_000015.10:g.74722363G>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro246Ala	rs760213300	missense variant	-	NC_000015.10:g.74722362G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro246Ser	rs760213300	missense variant	-	NC_000015.10:g.74722362G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu248Pro	rs374229319	missense variant	-	NC_000015.10:g.74722355A>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn249Ile	rs771648532	missense variant	-	NC_000015.10:g.74722352T>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn249Lys	rs749731774	missense variant	-	NC_000015.10:g.74722351A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn249Ser	rs771648532	missense variant	-	NC_000015.10:g.74722352T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe251Val	rs780666450	missense variant	-	NC_000015.10:g.74722347A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys252Gln	rs1469734683	missense variant	-	NC_000015.10:g.74722344T>G	gnomAD
CYP1A1	P04798	p.Asn255Lys	rs770136721	missense variant	-	NC_000015.10:g.74722333A>T	ExAC,gnomAD
CYP1A1	P04798	p.Glu256Lys	rs746238922	missense variant	-	NC_000015.10:g.74722332C>T	ExAC
CYP1A1	P04798	p.Tyr259Cys	rs1249069839	missense variant	-	NC_000015.10:g.74722322T>C	gnomAD
CYP1A1	P04798	p.Tyr259His	rs1287768171	missense variant	-	NC_000015.10:g.74722323A>G	TOPMed
CYP1A1	P04798	p.Phe261Ile	rs1203516220	missense variant	-	NC_000015.10:g.74722317A>T	gnomAD
CYP1A1	P04798	p.Phe261Leu	rs781336696	missense variant	-	NC_000015.10:g.74722315G>T	ExAC,gnomAD
CYP1A1	P04798	p.Met262Val	rs757497550	missense variant	-	NC_000015.10:g.74722314T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met262Leu	rs757497550	missense variant	-	NC_000015.10:g.74722314T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met262Ile	rs1401425776	missense variant	-	NC_000015.10:g.74722312C>T	TOPMed
CYP1A1	P04798	p.Lys264Asn	rs139496485	missense variant	-	NC_000015.10:g.74722306C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met265Arg	rs758554936	missense variant	-	NC_000015.10:g.74722304A>C	ExAC,gnomAD
CYP1A1	P04798	p.Met265Val	rs150514993	missense variant	-	NC_000015.10:g.74722305T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu268Lys	rs765333534	missense variant	-	NC_000015.10:g.74722296C>T	ExAC,gnomAD
CYP1A1	P04798	p.Glu268Ter	rs765333534	stop gained	-	NC_000015.10:g.74722296C>A	ExAC,gnomAD
CYP1A1	P04798	p.His269Asn	rs759345870	missense variant	-	NC_000015.10:g.74722293G>T	ExAC,gnomAD
CYP1A1	P04798	p.Phe273Leu	rs1286606165	missense variant	-	NC_000015.10:g.74722279A>C	gnomAD
CYP1A1	P04798	p.Lys275Glu	rs766089505	missense variant	-	NC_000015.10:g.74722275T>C	ExAC,gnomAD
CYP1A1	P04798	p.Arg279Trp	rs34260157	missense variant	-	NC_000015.10:g.74721708G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg279Gln	rs766251992	missense variant	-	NC_000015.10:g.74721707C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg279Gly	rs34260157	missense variant	-	NC_000015.10:g.74721708G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile281Val	rs750037230	missense variant	-	NC_000015.10:g.74721702T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp283Asn	rs1160841995	missense variant	-	NC_000015.10:g.74721696C>T	gnomAD
CYP1A1	P04798	p.Ser284Gly	rs1230613013	missense variant	-	NC_000015.10:g.74721693T>C	gnomAD
CYP1A1	P04798	p.Ser284Asn	rs755815189	missense variant	-	NC_000015.10:g.74721692C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu285Pro	rs761173802	missense variant	-	NC_000015.10:g.74721689A>G	ExAC
CYP1A1	P04798	p.Ile286Thr	rs4987133	missense variant	-	NC_000015.10:g.74721686A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln290Ter	rs767529575	stop gained	-	NC_000015.10:g.74721675G>A	gnomAD
CYP1A1	P04798	p.Glu291Ter	rs765698121	stop gained	-	NC_000015.10:g.74721672C>A	ExAC,gnomAD
CYP1A1	P04798	p.Lys292Thr	rs760009642	missense variant	-	NC_000015.10:g.74721668T>G	ExAC,gnomAD
CYP1A1	P04798	p.Gln293His	rs369522545	missense variant	-	NC_000015.10:g.74721664C>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln293Glu	rs1356947897	missense variant	-	NC_000015.10:g.74721666G>C	TOPMed
CYP1A1	P04798	p.Glu296Asp	rs1407021428	missense variant	-	NC_000015.10:g.74721655C>G	gnomAD
CYP1A1	P04798	p.Glu296Lys	rs1371300497	missense variant	-	NC_000015.10:g.74721657C>T	gnomAD
CYP1A1	P04798	p.Asn299Ser	rs747475208	missense variant	-	NC_000015.10:g.74721647T>C	ExAC,gnomAD
CYP1A1	P04798	p.Gln301Ter	rs576054856	stop gained	-	NC_000015.10:g.74721642G>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Ser303Leu	rs1185021586	missense variant	-	NC_000015.10:g.74721635G>A	gnomAD
CYP1A1	P04798	p.Glu305Lys	rs779103951	missense variant	-	NC_000015.10:g.74721630C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys306Asn	rs755155099	missense variant	-	NC_000015.10:g.74721625C>A	ExAC,gnomAD
CYP1A1	P04798	p.Ile308Met	rs1489265730	missense variant	-	NC_000015.10:g.74721619A>C	gnomAD
CYP1A1	P04798	p.Ile308Thr	rs1264808568	missense variant	-	NC_000015.10:g.74721620A>G	TOPMed
CYP1A1	P04798	p.Ile308Val	rs1196754101	missense variant	-	NC_000015.10:g.74721621T>C	gnomAD
CYP1A1	P04798	p.Val311Ile	rs376586536	missense variant	-	NC_000015.10:g.74721612C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp313Gly	rs755794714	missense variant	-	NC_000015.10:g.74721605T>C	ExAC,gnomAD
CYP1A1	P04798	p.Leu314Phe	rs750248838	missense variant	-	NC_000015.10:g.74721603G>A	ExAC,gnomAD
CYP1A1	P04798	p.Leu314Pro	rs1282728081	missense variant	-	NC_000015.10:g.74721602A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Phe315Cys	rs756969439	missense variant	-	NC_000015.10:g.74721599A>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala317Val	rs751256789	missense variant	-	NC_000015.10:g.74721593G>A	ExAC,gnomAD
CYP1A1	P04798	p.Gly318Glu	rs745612512	missense variant	-	NC_000015.10:g.74721503C>T	ExAC,gnomAD
CYP1A1	P04798	p.Gly318Arg	rs373178275	missense variant	-	NC_000015.10:g.74721591C>T	ESP,ExAC,TOPMed
CYP1A1	P04798	p.Asp320Gly	rs781013981	missense variant	-	NC_000015.10:g.74721497T>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr324Ser	rs751201537	missense variant	-	NC_000015.10:g.74721485G>C	ExAC,gnomAD
CYP1A1	P04798	p.Thr324Ala	rs757053417	missense variant	-	NC_000015.10:g.74721486T>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala325Ser	rs201691396	missense variant	-	NC_000015.10:g.74721483C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile326Val	rs757839494	missense variant	-	NC_000015.10:g.74721480T>C	ExAC,gnomAD
CYP1A1	P04798	p.Ser327Phe	rs369465868	missense variant	-	NC_000015.10:g.74721476G>A	ESP,TOPMed
CYP1A1	P04798	p.Ser329Arg	rs766754993	missense variant	-	NC_000015.10:g.74721469G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser329Arg	rs766754993	missense variant	-	NC_000015.10:g.74721469G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser329Asn	rs989474773	missense variant	-	NC_000015.10:g.74721470C>T	TOPMed,gnomAD
CYP1A1	P04798	p.Met331Ile	rs56313657	missense variant	-	NC_000015.10:g.74721463C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Met331Lys	rs1393401095	missense variant	-	NC_000015.10:g.74721464A>T	TOPMed
CYP1A1	P04798	p.Met331Ile	rs56313657	missense variant	-	NC_000015.10:g.74721463C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val334Ala	rs767906777	missense variant	-	NC_000015.10:g.74721455A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val334Glu	rs767906777	missense variant	-	NC_000015.10:g.74721455A>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asn336Ser	rs762331374	missense variant	-	NC_000015.10:g.74721449T>C	ExAC,gnomAD
CYP1A1	P04798	p.Pro337Ser	rs1226899058	missense variant	-	NC_000015.10:g.74721447G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Gln340His	rs1340288097	missense variant	-	NC_000015.10:g.74721436C>G	TOPMed,gnomAD
CYP1A1	P04798	p.Arg341Lys	rs866536829	missense variant	-	NC_000015.10:g.74721434C>T	TOPMed
CYP1A1	P04798	p.Lys342Asn	rs199747074	missense variant	-	NC_000015.10:g.74721430C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys342Asn	rs199747074	missense variant	-	NC_000015.10:g.74721430C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile343Leu	rs763080902	missense variant	-	NC_000015.10:g.74721429T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gln344His	rs775674343	missense variant	-	NC_000015.10:g.74721424T>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu345Ter	rs539280298	stop gained	-	NC_000015.10:g.74721423C>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Glu346Gln	rs986807524	missense variant	-	NC_000015.10:g.74721420C>G	TOPMed
CYP1A1	P04798	p.Glu346Gly	rs781050138	missense variant	-	NC_000015.10:g.74721419T>C	ExAC,gnomAD
CYP1A1	P04798	p.Leu347Pro	rs1372013152	missense variant	-	NC_000015.10:g.74721416A>G	gnomAD
CYP1A1	P04798	p.Thr349Lys	rs746759986	missense variant	-	NC_000015.10:g.74721319G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr349Ile	rs746759986	missense variant	-	NC_000015.10:g.74721319G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val350Ala	rs777511101	missense variant	-	NC_000015.10:g.74721316A>G	ExAC,gnomAD
CYP1A1	P04798	p.Ile351Thr	rs771902675	missense variant	-	NC_000015.10:g.74721313A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg353Gly	rs747822093	missense variant	-	NC_000015.10:g.74721308T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser354Ala	rs1211994116	missense variant	-	NC_000015.10:g.74721305A>C	gnomAD
CYP1A1	P04798	p.Ser354Ter	rs1049791270	stop gained	-	NC_000015.10:g.74721304G>T	gnomAD
CYP1A1	P04798	p.Arg355Gln	rs753298761	missense variant	-	NC_000015.10:g.74721301C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg355Trp	rs191792412	missense variant	-	NC_000015.10:g.74721302G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg356Gln	rs368650547	missense variant	-	NC_000015.10:g.74721298C>T	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg356Trp	rs1351755997	missense variant	-	NC_000015.10:g.74721299G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Pro357Leu	rs148341881	missense variant	-	NC_000015.10:g.74721295G>A	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Arg358Trp	rs371074476	missense variant	-	NC_000015.10:g.74721293G>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg358Gln	rs186168141	missense variant	-	NC_000015.10:g.74721292C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu359Phe	rs1269949096	missense variant	-	NC_000015.10:g.74721290G>A	TOPMed
CYP1A1	P04798	p.Arg362Ile	rs200723875	missense variant	-	NC_000015.10:g.74721280C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg362Ser	rs765383478	missense variant	-	NC_000015.10:g.74721279T>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser363Phe	rs759604228	missense variant	-	NC_000015.10:g.74721277G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser363Tyr	rs759604228	missense variant	-	NC_000015.10:g.74721277G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His364Gln	rs1414207354	missense variant	-	NC_000015.10:g.74721273A>C	gnomAD
CYP1A1	P04798	p.Tyr367Cys	rs776598021	missense variant	-	NC_000015.10:g.74721265T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met368Val	rs766484540	missense variant	-	NC_000015.10:g.74721263T>C	ExAC,gnomAD
CYP1A1	P04798	p.Met368Leu	rs766484540	missense variant	-	NC_000015.10:g.74721263T>A	ExAC,gnomAD
CYP1A1	P04798	p.Glu369Gln	rs1201337188	missense variant	-	NC_000015.10:g.74721260C>G	gnomAD
CYP1A1	P04798	p.Glu369Asp	rs760582221	missense variant	-	NC_000015.10:g.74721258C>G	ExAC,gnomAD
CYP1A1	P04798	p.Ala370Val	rs1261508980	missense variant	-	NC_000015.10:g.74721256G>A	gnomAD
CYP1A1	P04798	p.Phe371Tyr	rs375093189	missense variant	-	NC_000015.10:g.74721253A>T	ESP,ExAC
CYP1A1	P04798	p.Ile372Ser	rs771849645	missense variant	-	NC_000015.10:g.74721250A>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Leu373Pro	rs747896348	missense variant	-	NC_000015.10:g.74721247A>G	ExAC,gnomAD
CYP1A1	P04798	p.Glu374Gly	rs1269397584	missense variant	-	NC_000015.10:g.74721244T>C	gnomAD
CYP1A1	P04798	p.Thr375Asn	rs905657710	missense variant	-	NC_000015.10:g.74721241G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Thr375Ile	rs905657710	missense variant	-	NC_000015.10:g.74721241G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Phe376Tyr	rs1276203155	missense variant	-	NC_000015.10:g.74721238A>T	gnomAD
CYP1A1	P04798	p.Arg377Ter	rs768212140	stop gained	-	NC_000015.10:g.74721236G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg377Gln	rs201174966	missense variant	-	NC_000015.10:g.74721235C>T	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Ser380Phe	rs1389276967	missense variant	-	NC_000015.10:g.74721226G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Ser380Ala	rs779682021	missense variant	-	NC_000015.10:g.74721227A>C	ExAC,gnomAD
CYP1A1	P04798	p.Phe381Leu	rs2856833	missense variant	-	NC_000015.10:g.74721222G>C	TOPMed,gnomAD
CYP1A1	P04798	p.Phe381Leu	rs2856833	missense variant	-	NC_000015.10:g.74721222G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Val382Ala	rs1174492608	missense variant	-	NC_000015.10:g.74721220A>G	gnomAD
CYP1A1	P04798	p.Val382Ile	rs201651069	missense variant	-	NC_000015.10:g.74721221C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro383His	rs778494829	missense variant	-	NC_000015.10:g.74721217G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro383Leu	rs778494829	missense variant	-	NC_000015.10:g.74721217G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro383Ser	rs947102105	missense variant	-	NC_000015.10:g.74721218G>A	TOPMed
CYP1A1	P04798	p.Ile386Val	rs367605080	missense variant	-	NC_000015.10:g.74721209T>C	ExAC,gnomAD
CYP1A1	P04798	p.Ile386Ser	rs1187061906	missense variant	-	NC_000015.10:g.74721208A>C	TOPMed,gnomAD
CYP1A1	P04798	p.Pro387Leu	rs988977632	missense variant	-	NC_000015.10:g.74721205G>A	TOPMed
CYP1A1	P04798	p.His388Arg	rs765452772	missense variant	-	NC_000015.10:g.74721202T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His388Pro	rs765452772	missense variant	-	NC_000015.10:g.74721202T>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ser389Gly	rs1203612160	missense variant	-	NC_000015.10:g.74721200T>C	gnomAD
CYP1A1	P04798	p.Ser389Arg	rs748507253	missense variant	-	NC_000015.10:g.74721053G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr391Ala	rs1035607364	missense variant	-	NC_000015.10:g.74721049T>C	TOPMed
CYP1A1	P04798	p.Arg392Gly	rs1275923224	missense variant	-	NC_000015.10:g.74721046T>C	TOPMed,gnomAD
CYP1A1	P04798	p.Asp393Ala	rs762064937	missense variant	-	NC_000015.10:g.74721042T>G	gnomAD
CYP1A1	P04798	p.Asp393Asn	rs1380427518	missense variant	-	NC_000015.10:g.74721043C>T	TOPMed
CYP1A1	P04798	p.Asp393Val	rs762064937	missense variant	-	NC_000015.10:g.74721042T>A	gnomAD
CYP1A1	P04798	p.Thr394Arg	rs779123202	missense variant	-	NC_000015.10:g.74721039G>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr394Ala	rs1421103263	missense variant	-	NC_000015.10:g.74721040T>C	TOPMed
CYP1A1	P04798	p.Leu396Val	rs755427562	missense variant	-	NC_000015.10:g.74721034A>C	ExAC,gnomAD
CYP1A1	P04798	p.Tyr400His	rs1008131147	missense variant	-	NC_000015.10:g.74721022A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Ile401Leu	rs777186546	missense variant	-	NC_000015.10:g.74721019T>G	TOPMed
CYP1A1	P04798	p.Ile401Asn	rs1432826390	missense variant	-	NC_000015.10:g.74721018A>T	gnomAD
CYP1A1	P04798	p.Gly404Glu	rs754054915	missense variant	-	NC_000015.10:g.74721009C>T	ExAC
CYP1A1	P04798	p.Arg405Cys	rs1171289597	missense variant	-	NC_000015.10:g.74721007G>A	TOPMed,gnomAD
CYP1A1	P04798	p.Arg405His	rs56127934	missense variant	-	NC_000015.10:g.74721006C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg405Ser	rs1171289597	missense variant	-	NC_000015.10:g.74721007G>T	TOPMed,gnomAD
CYP1A1	P04798	p.Cys406Tyr	rs750520977	missense variant	-	NC_000015.10:g.74721003C>T	ExAC,gnomAD
CYP1A1	P04798	p.Val407Asp	rs1471948876	missense variant	-	NC_000015.10:g.74721000A>T	gnomAD
CYP1A1	P04798	p.Gln411Pro	rs767446337	missense variant	-	NC_000015.10:g.74720988T>G	ExAC,gnomAD
CYP1A1	P04798	p.Gln411His	rs1183810110	missense variant	-	NC_000015.10:g.74720987C>A	gnomAD
CYP1A1	P04798	p.Trp412Ter	rs1264551753	stop gained	-	NC_000015.10:g.74720985C>T	gnomAD
CYP1A1	P04798	p.Trp412Arg	rs377421606	missense variant	-	NC_000015.10:g.74720986A>G	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile414Thr	rs201265044	missense variant	-	NC_000015.10:g.74720979A>G	1000Genomes
CYP1A1	P04798	p.Ile414Val	rs751567451	missense variant	-	NC_000015.10:g.74720980T>C	ExAC,gnomAD
CYP1A1	P04798	p.Asn415Ile	rs762876189	missense variant	-	NC_000015.10:g.74720976T>A	ExAC,gnomAD
CYP1A1	P04798	p.Asn415Thr	rs762876189	missense variant	-	NC_000015.10:g.74720976T>G	ExAC,gnomAD
CYP1A1	P04798	p.His416Asn	rs1290445836	missense variant	-	NC_000015.10:g.74720974G>T	gnomAD
CYP1A1	P04798	p.His416Gln	rs1379156959	missense variant	-	NC_000015.10:g.74720972A>T	TOPMed
CYP1A1	P04798	p.Asp417Asn	rs1190346566	missense variant	-	NC_000015.10:g.74720971C>T	gnomAD
CYP1A1	P04798	p.Lys419Glu	rs138804663	missense variant	-	NC_000015.10:g.74720773T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Trp421Cys	rs578124762	missense variant	-	NC_000015.10:g.74720765C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val422Ile	rs770339773	missense variant	-	NC_000015.10:g.74720764C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val422Ala	rs1245678102	missense variant	-	NC_000015.10:g.74720763A>G	TOPMed
CYP1A1	P04798	p.Pro424Leu	rs769227467	missense variant	-	NC_000015.10:g.74720757G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro424Thr	rs774658772	missense variant	-	NC_000015.10:g.74720758G>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Glu426Gly	rs1300396052	missense variant	-	NC_000015.10:g.74720751T>C	gnomAD
CYP1A1	P04798	p.Arg431Trp	rs770191780	missense variant	-	NC_000015.10:g.74720737G>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg431Gln	rs746078945	missense variant	-	NC_000015.10:g.74720736C>T	ExAC,gnomAD
CYP1A1	P04798	p.Asp436Val	rs1460389026	missense variant	-	NC_000015.10:g.74720721T>A	TOPMed
CYP1A1	P04798	p.Ile439Val	rs781545021	missense variant	-	NC_000015.10:g.74720713T>C	ExAC,gnomAD
CYP1A1	P04798	p.Asp440Val	rs758445411	missense variant	-	NC_000015.10:g.74720709T>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp440Tyr	rs145198866	missense variant	-	NC_000015.10:g.74720710C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Asp440Asn	rs145198866	missense variant	-	NC_000015.10:g.74720710C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys441Arg	rs752724213	missense variant	-	NC_000015.10:g.74720706T>C	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val442Gly	rs1292499417	missense variant	-	NC_000015.10:g.74720703A>C	gnomAD
CYP1A1	P04798	p.ValLeuSerGlu442ValLeuSerValLysTerUnk	rs1319890121	stop gained	-	NC_000015.10:g.74720704_74720705insTTAACAC	TOPMed
CYP1A1	P04798	p.Glu445Asp	rs1226579512	missense variant	-	NC_000015.10:g.74720693C>G	TOPMed
CYP1A1	P04798	p.Val447Met	rs754884581	missense variant	-	NC_000015.10:g.74720689C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val447Leu	rs754884581	missense variant	-	NC_000015.10:g.74720689C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile448Thr	rs72547509	missense variant	-	NC_000015.10:g.74720685A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile448Asn	rs72547509	missense variant	-	NC_000015.10:g.74720685A>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile449Asn	rs955318319	missense variant	-	NC_000015.10:g.74720682A>T	TOPMed,gnomAD
CYP1A1	P04798	p.Ile449Phe	rs760050326	missense variant	-	NC_000015.10:g.74720683T>A	ExAC,gnomAD
CYP1A1	P04798	p.Gly451Val	rs772810680	missense variant	-	NC_000015.10:g.74720676C>A	ExAC,gnomAD
CYP1A1	P04798	p.Met452Ile	rs767053022	missense variant	-	NC_000015.10:g.74720672C>T	ExAC,gnomAD
CYP1A1	P04798	p.Met452Thr	rs1379298245	missense variant	-	NC_000015.10:g.74720673A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Gly453Arg	rs763427692	missense variant	-	NC_000015.10:g.74720671C>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Lys454Asn	rs369745647	missense variant	-	NC_000015.10:g.74720666C>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg455Trp	rs770140945	missense variant	-	NC_000015.10:g.74720665G>A	ExAC,gnomAD
CYP1A1	P04798	p.Arg455Gln	rs180744198	missense variant	-	NC_000015.10:g.74720664C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Cys457Phe	rs776659416	missense variant	-	NC_000015.10:g.74720658C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Cys457Tyr	rs776659416	missense variant	-	NC_000015.10:g.74720658C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly459Ser	rs371662141	missense variant	-	NC_000015.10:g.74720653C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr461Ile	rs1799814	missense variant	-	NC_000015.10:g.74720646G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr461Asn	rs1799814	missense variant	-	NC_000015.10:g.74720646G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr461Asn	rs1799814	missense variant	-	NC_000015.10:g.74720646G>T	UniProt,dbSNP
CYP1A1	P04798	p.Thr461Asn	VAR_008342	missense variant	-	NC_000015.10:g.74720646G>T	UniProt
CYP1A1	P04798	p.Ile462Phe	rs1048943	missense variant	-	NC_000015.10:g.74720644T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Val	rs1048943	missense variant	-	NC_000015.10:g.74720644T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Val	rs1048943	missense variant	-	NC_000015.10:g.74720644T>C	UniProt,dbSNP
CYP1A1	P04798	p.Ile462Val	VAR_001243	missense variant	-	NC_000015.10:g.74720644T>C	UniProt
CYP1A1	P04798	p.Ile462Leu	rs1048943	missense variant	-	NC_000015.10:g.74720644T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Asn	rs752537968	missense variant	-	NC_000015.10:g.74720643A>T	TOPMed,gnomAD
CYP1A1	P04798	p.Ile462Thr	rs752537968	missense variant	-	NC_000015.10:g.74720643A>G	TOPMed,gnomAD
CYP1A1	P04798	p.Ala463Thr	rs141177861	missense variant	-	NC_000015.10:g.74720641C>T	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Ala463Gly	rs2278970	missense variant	-	NC_000015.10:g.74720640G>C	ExAC,gnomAD
CYP1A1	P04798	p.Ala463Ser	rs141177861	missense variant	-	NC_000015.10:g.74720641C>A	ESP,ExAC,gnomAD
CYP1A1	P04798	p.Ala463Val	rs2278970	missense variant	-	NC_000015.10:g.74720640G>A	ExAC,gnomAD
CYP1A1	P04798	p.Arg464Cys	rs41279188	missense variant	-	NC_000015.10:g.74720638G>A	UniProt,dbSNP
CYP1A1	P04798	p.Arg464Cys	VAR_016939	missense variant	-	NC_000015.10:g.74720638G>A	UniProt
CYP1A1	P04798	p.Arg464Cys	rs41279188	missense variant	-	NC_000015.10:g.74720638G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg464Ser	rs41279188	missense variant	-	NC_000015.10:g.74720638G>T	UniProt,dbSNP
CYP1A1	P04798	p.Arg464Ser	VAR_016940	missense variant	-	NC_000015.10:g.74720638G>T	UniProt
CYP1A1	P04798	p.Arg464Ser	rs41279188	missense variant	-	NC_000015.10:g.74720638G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg464His	rs1014488188	missense variant	-	NC_000015.10:g.74720637C>T	gnomAD
CYP1A1	P04798	p.Glu466Lys	rs750089998	missense variant	-	NC_000015.10:g.74720632C>T	ExAC,gnomAD
CYP1A1	P04798	p.Phe470Val	rs36121583	missense variant	-	NC_000015.10:g.74720620A>C	UniProt,dbSNP
CYP1A1	P04798	p.Phe470Val	VAR_033818	missense variant	-	NC_000015.10:g.74720620A>C	UniProt
CYP1A1	P04798	p.Phe470Val	rs36121583	missense variant	-	NC_000015.10:g.74720620A>C	-
CYP1A1	P04798	p.Phe470Tyr	rs761381484	missense variant	-	NC_000015.10:g.74720619A>T	ExAC,gnomAD
CYP1A1	P04798	p.Ile473Asn	rs1411228732	missense variant	-	NC_000015.10:g.74720610A>T	gnomAD
CYP1A1	P04798	p.Leu474Pro	rs147634852	missense variant	-	NC_000015.10:g.74720607A>G	1000Genomes,ExAC,gnomAD
CYP1A1	P04798	p.Leu475Pro	rs1471673167	missense variant	-	NC_000015.10:g.74720604A>G	gnomAD
CYP1A1	P04798	p.Gln476Glu	rs759771555	missense variant	-	NC_000015.10:g.74720602G>C	ExAC,gnomAD
CYP1A1	P04798	p.Arg477Trp	rs56240201	missense variant	-	NC_000015.10:g.74720599G>A	UniProt,dbSNP
CYP1A1	P04798	p.Arg477Trp	VAR_016941	missense variant	-	NC_000015.10:g.74720599G>A	UniProt
CYP1A1	P04798	p.Arg477Trp	rs56240201	missense variant	-	NC_000015.10:g.74720599G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg477Gly	rs56240201	missense variant	-	NC_000015.10:g.74720599G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg477Gln	rs140680363	missense variant	-	NC_000015.10:g.74720598C>T	ESP,TOPMed,gnomAD
CYP1A1	P04798	p.Val478Met	rs771243368	missense variant	-	NC_000015.10:g.74720596C>T	ExAC,gnomAD
CYP1A1	P04798	p.Glu479Val	rs773629149	missense variant	-	NC_000015.10:g.74720592T>A	ExAC,gnomAD
CYP1A1	P04798	p.Ser481Gly	rs1226008882	missense variant	-	NC_000015.10:g.74720587T>C	gnomAD
CYP1A1	P04798	p.Ser481Thr	rs1330666981	missense variant	-	NC_000015.10:g.74720586C>G	gnomAD
CYP1A1	P04798	p.Val482Met	rs28399429	missense variant	-	NC_000015.10:g.74720584C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro483Thr	rs45500996	missense variant	-	NC_000015.10:g.74720581G>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Pro483Ser	rs45500996	missense variant	-	NC_000015.10:g.74720581G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly485Arg	rs1335138887	missense variant	-	NC_000015.10:g.74720575C>G	TOPMed,gnomAD
CYP1A1	P04798	p.Val486Met	rs749223641	missense variant	-	NC_000015.10:g.74720572C>T	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val486Leu	rs749223641	missense variant	-	NC_000015.10:g.74720572C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Val486Glu	rs1318511924	missense variant	-	NC_000015.10:g.74720571A>T	gnomAD
CYP1A1	P04798	p.Val488Met	rs779876388	missense variant	-	NC_000015.10:g.74720566C>T	ExAC,gnomAD
CYP1A1	P04798	p.Asp489Tyr	rs1387269151	missense variant	-	NC_000015.10:g.74720563C>A	gnomAD
CYP1A1	P04798	p.Asp489Ala	rs1318518361	missense variant	-	NC_000015.10:g.74720562T>G	gnomAD
CYP1A1	P04798	p.Thr491Asn	rs755919617	missense variant	-	NC_000015.10:g.74720556G>T	ExAC
CYP1A1	P04798	p.Thr491Ala	rs1376199019	missense variant	-	NC_000015.10:g.74720557T>C	gnomAD
CYP1A1	P04798	p.Pro492Arg	rs28399430	missense variant	-	NC_000015.10:g.74720553G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Tyr494Cys	rs367604147	missense variant	-	NC_000015.10:g.74720547T>C	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Gly495Trp	rs142388113	missense variant	-	NC_000015.10:g.74720545C>A	ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Thr497Asn	rs1284361340	missense variant	-	NC_000015.10:g.74720538G>T	gnomAD
CYP1A1	P04798	p.Met498Thr	rs765698057	missense variant	-	NC_000015.10:g.74720535A>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.His500Tyr	rs1342430592	missense variant	-	NC_000015.10:g.74720530G>A	gnomAD
CYP1A1	P04798	p.His500Asp	rs1342430592	missense variant	-	NC_000015.10:g.74720530G>C	gnomAD
CYP1A1	P04798	p.His500Leu	rs760061276	missense variant	-	NC_000015.10:g.74720529T>A	ExAC,gnomAD
CYP1A1	P04798	p.Ala501Val	rs766755387	missense variant	-	NC_000015.10:g.74720526G>A	ExAC,gnomAD
CYP1A1	P04798	p.Cys503Arg	rs1279844744	missense variant	-	NC_000015.10:g.74720521A>G	TOPMed
CYP1A1	P04798	p.Cys503Ser	rs760948792	missense variant	-	NC_000015.10:g.74720520C>G	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Cys503Phe	rs760948792	missense variant	-	NC_000015.10:g.74720520C>A	ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Phe506Cys	rs1197263279	missense variant	-	NC_000015.10:g.74720511A>C	TOPMed
CYP1A1	P04798	p.Phe506Leu	rs1346984407	missense variant	-	NC_000015.10:g.74720512A>G	gnomAD
CYP1A1	P04798	p.Gln507Glu	rs772442747	missense variant	-	NC_000015.10:g.74720509G>C	ExAC,gnomAD
CYP1A1	P04798	p.Gln509His	rs1292016862	missense variant	-	NC_000015.10:g.74720501C>A	TOPMed,gnomAD
CYP1A1	P04798	p.Gln509Arg	rs1414047981	missense variant	-	NC_000015.10:g.74720502T>C	gnomAD
CYP1A1	P04798	p.Arg511His	rs56343424	missense variant	-	NC_000015.10:g.74720496C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg511Leu	rs56343424	missense variant	-	NC_000015.10:g.74720496C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP1A1	P04798	p.Arg511Cys	rs148638069	missense variant	-	NC_000015.10:g.74720497G>A	ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Pro2His	rs1276365455	missense variant	-	NC_000018.10:g.657747C>A	gnomAD
TYMS	P04818	p.Ala4Ser	rs910134246	missense variant	-	NC_000018.10:g.657752G>T	TOPMed,gnomAD
TYMS	P04818	p.Gly5Ser	rs765119393	missense variant	-	NC_000018.10:g.657755G>A	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Ser6Leu	rs1257230944	missense variant	-	NC_000018.10:g.657759C>T	TOPMed,gnomAD
TYMS	P04818	p.Ser6Trp	rs1257230944	missense variant	-	NC_000018.10:g.657759C>G	TOPMed,gnomAD
TYMS	P04818	p.Ser6Ala	rs1337198820	missense variant	-	NC_000018.10:g.657758T>G	TOPMed,gnomAD
TYMS	P04818	p.Pro9Leu	rs1190217127	missense variant	-	NC_000018.10:g.657768C>T	gnomAD
TYMS	P04818	p.Arg10His	rs985633324	missense variant	-	NC_000018.10:g.657771G>A	TOPMed,gnomAD
TYMS	P04818	p.Arg10Leu	rs985633324	missense variant	-	NC_000018.10:g.657771G>T	TOPMed,gnomAD
TYMS	P04818	p.Pro12Ala	rs1475132959	missense variant	-	NC_000018.10:g.657776C>G	gnomAD
TYMS	P04818	p.Leu13Ser	rs758379914	missense variant	-	NC_000018.10:g.657780T>C	ExAC,gnomAD
TYMS	P04818	p.Pro14Arg	rs1172829435	missense variant	-	NC_000018.10:g.657783C>G	TOPMed,gnomAD
TYMS	P04818	p.Pro14His	rs1172829435	missense variant	-	NC_000018.10:g.657783C>A	TOPMed,gnomAD
TYMS	P04818	p.Pro14Leu	rs1172829435	missense variant	-	NC_000018.10:g.657783C>T	TOPMed,gnomAD
TYMS	P04818	p.Pro15Arg	rs746824953	missense variant	-	NC_000018.10:g.657786C>G	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Pro15Ala	rs188268314	missense variant	-	NC_000018.10:g.657785C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Pro15Ser	rs188268314	missense variant	-	NC_000018.10:g.657785C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Pro15His	rs746824953	missense variant	-	NC_000018.10:g.657786C>A	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Gln18Arg	rs1244183309	missense variant	-	NC_000018.10:g.657795A>G	TOPMed,gnomAD
TYMS	P04818	p.Gln18His	rs1432304752	missense variant	-	NC_000018.10:g.657796G>T	gnomAD
TYMS	P04818	p.Ala22Thr	rs914193673	missense variant	-	NC_000018.10:g.657806G>A	TOPMed
TYMS	P04818	p.Pro24Arg	rs1365538416	missense variant	-	NC_000018.10:g.657813C>G	gnomAD
TYMS	P04818	p.Pro24Ser	rs781495898	missense variant	-	NC_000018.10:g.657812C>T	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Pro24Thr	rs781495898	missense variant	-	NC_000018.10:g.657812C>A	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Arg25Leu	rs971608783	missense variant	-	NC_000018.10:g.657816G>T	gnomAD
TYMS	P04818	p.Arg25His	rs971608783	missense variant	-	NC_000018.10:g.657816G>A	gnomAD
TYMS	P04818	p.Pro26Ser	rs1280151022	missense variant	-	NC_000018.10:g.657818C>T	TOPMed,gnomAD
TYMS	P04818	p.Pro27Leu	rs945359619	missense variant	-	NC_000018.10:g.657822C>T	TOPMed,gnomAD
TYMS	P04818	p.Pro27Ser	rs1343318609	missense variant	-	NC_000018.10:g.657821C>T	gnomAD
TYMS	P04818	p.His28Gln	rs556984495	missense variant	-	NC_000018.10:g.657826C>G	1000Genomes,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Gly29Arg	rs1275814898	missense variant	-	NC_000018.10:g.657827G>A	TOPMed
TYMS	P04818	p.Gln32Glu	rs1034044510	missense variant	-	NC_000018.10:g.657836C>G	TOPMed,gnomAD
TYMS	P04818	p.Gly35Glu	rs1186795888	missense variant	-	NC_000018.10:g.657846G>A	TOPMed,gnomAD
TYMS	P04818	p.Gln36His	rs764376630	missense variant	-	NC_000018.10:g.657850G>T	TOPMed
TYMS	P04818	p.Gln36His	rs764376630	missense variant	-	NC_000018.10:g.657850G>C	TOPMed
TYMS	P04818	p.Arg42Leu	rs749802693	missense variant	-	NC_000018.10:g.657867G>T	ExAC
TYMS	P04818	p.Arg42Cys	rs780327998	missense variant	-	NC_000018.10:g.657866C>T	ExAC,gnomAD
TYMS	P04818	p.Arg46Gly	rs1376079761	missense variant	-	NC_000018.10:g.657878A>G	gnomAD
TYMS	P04818	p.Arg46Lys	rs1339068086	missense variant	-	NC_000018.10:g.657879G>A	TOPMed
TYMS	P04818	p.Asp48Asn	rs1470616694	missense variant	-	NC_000018.10:g.657884G>A	TOPMed
TYMS	P04818	p.Asp49Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.657887G>A	NCI-TCGA
TYMS	P04818	p.Arg50Leu	rs774517504	missense variant	-	NC_000018.10:g.657891G>T	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Gly52Ser	rs762256027	missense variant	-	NC_000018.10:g.657896G>A	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Thr53Ala	rs1373657786	missense variant	-	NC_000018.10:g.657899A>G	TOPMed
TYMS	P04818	p.Gly54Ser	rs1388727424	missense variant	-	NC_000018.10:g.657902G>A	gnomAD
TYMS	P04818	p.Leu56Pro	rs1422282745	missense variant	-	NC_000018.10:g.657909T>C	TOPMed
TYMS	P04818	p.Ser57Trp	rs1416155914	missense variant	-	NC_000018.10:g.657912C>G	gnomAD
TYMS	P04818	p.Met61Leu	rs1013467217	missense variant	-	NC_000018.10:g.657923A>C	TOPMed
TYMS	P04818	p.Met61Ile	rs1332414425	missense variant	-	NC_000018.10:g.657925G>A	gnomAD
TYMS	P04818	p.Gln62Arg	rs1235927523	missense variant	-	NC_000018.10:g.657927A>G	gnomAD
TYMS	P04818	p.Ala63Val	rs1350646379	missense variant	-	NC_000018.10:g.657930C>T	gnomAD
TYMS	P04818	p.Ala63Thr	rs569127419	missense variant	-	NC_000018.10:g.657929G>A	1000Genomes,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Arg64His	rs1270163632	missense variant	-	NC_000018.10:g.657933G>A	TOPMed,gnomAD
TYMS	P04818	p.Arg64Leu	rs1270163632	missense variant	-	NC_000018.10:g.657933G>T	TOPMed,gnomAD
TYMS	P04818	p.Ser66Arg	rs752269816	missense variant	-	NC_000018.10:g.657940C>A	ExAC,gnomAD
TYMS	P04818	p.Ser66Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.657939G>A	NCI-TCGA
TYMS	P04818	p.Asp69Gly	NCI-TCGA novel	missense variant	-	NC_000018.10:g.659641A>G	NCI-TCGA
TYMS	P04818	p.Phe71Leu	rs1386139292	missense variant	-	NC_000018.10:g.659648C>G	gnomAD
TYMS	P04818	p.Pro72Leu	rs998190755	missense variant	-	NC_000018.10:g.659650C>T	TOPMed
TYMS	P04818	p.Arg78His	rs1338576592	missense variant	-	NC_000018.10:g.659668G>A	TOPMed,gnomAD
TYMS	P04818	p.Arg78Cys	rs139713318	missense variant	-	NC_000018.10:g.659667C>T	ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Val79Glu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.659671T>A	NCI-TCGA
TYMS	P04818	p.Phe80Leu	COSM4073039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.659673T>C	NCI-TCGA Cosmic
TYMS	P04818	p.Lys82Asn	rs1449621034	missense variant	-	NC_000018.10:g.659681G>T	gnomAD
TYMS	P04818	p.Glu87Ala	rs1182954109	missense variant	-	NC_000018.10:g.659695A>C	TOPMed
TYMS	P04818	p.Glu87Asp	rs1459906556	missense variant	-	NC_000018.10:g.659696G>T	TOPMed
TYMS	P04818	p.Trp90Arg	rs1258120815	missense variant	-	NC_000018.10:g.659703T>C	TOPMed
TYMS	P04818	p.Phe91Tyr	rs1200567277	missense variant	-	NC_000018.10:g.659707T>A	TOPMed
TYMS	P04818	p.Ser95Cys	rs1432195599	missense variant	-	NC_000018.10:g.662150C>G	gnomAD
TYMS	P04818	p.Glu100Gln	rs59755869	missense variant	-	NC_000018.10:g.662164G>C	ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Ser103Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.662174C>A	NCI-TCGA
TYMS	P04818	p.Val106Met	rs761906575	missense variant	-	NC_000018.10:g.662182G>A	ExAC,gnomAD
TYMS	P04818	p.Ala111Ser	rs1198531715	missense variant	-	NC_000018.10:g.662197G>T	TOPMed
TYMS	P04818	p.Asp116Gly	rs1255400378	missense variant	-	NC_000018.10:g.662213A>G	TOPMed
TYMS	P04818	p.Ser120Asn	rs1464510968	missense variant	-	NC_000018.10:g.662225G>A	gnomAD
TYMS	P04818	p.Gly122Arg	rs1250166783	missense variant	-	NC_000018.10:g.662230G>A	gnomAD
TYMS	P04818	p.Phe123Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.662235C>A	NCI-TCGA
TYMS	P04818	p.Ser124Phe	NCI-TCGA novel	missense variant	-	NC_000018.10:g.662237C>T	NCI-TCGA
TYMS	P04818	p.Arg126Gly	COSM3989612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.662242A>G	NCI-TCGA Cosmic
TYMS	P04818	p.Arg126Lys	rs1197981170	missense variant	-	NC_000018.10:g.662243G>A	gnomAD
TYMS	P04818	p.Glu127Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.662245G>T	NCI-TCGA
TYMS	P04818	p.Glu128Gly	rs1057376810	missense variant	-	NC_000018.10:g.662249A>G	TOPMed
TYMS	P04818	p.Gly129Ala	rs1386677048	missense variant	-	NC_000018.10:g.662252G>C	TOPMed,gnomAD
TYMS	P04818	p.Val134Asp	rs201415512	missense variant	-	NC_000018.10:g.662267T>A	1000Genomes,ExAC,gnomAD
TYMS	P04818	p.Gly136Ser	rs751072286	missense variant	-	NC_000018.10:g.662272G>A	ExAC,gnomAD
TYMS	P04818	p.His141Tyr	rs550446568	missense variant	-	NC_000018.10:g.662287C>T	1000Genomes,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Phe142Leu	rs1323389786	missense variant	-	NC_000018.10:g.662292T>G	gnomAD
TYMS	P04818	p.Gly143Glu	rs1329714595	missense variant	-	NC_000018.10:g.662294G>A	gnomAD
TYMS	P04818	p.Tyr146Ter	rs780803284	stop gained	-	NC_000018.10:g.662304C>G	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Arg147Lys	rs200442141	missense variant	-	NC_000018.10:g.662306G>A	1000Genomes,ExAC,gnomAD
TYMS	P04818	p.Asp148Glu	rs756138720	missense variant	-	NC_000018.10:g.662310T>G	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Asp148Ala	rs1329031476	missense variant	-	NC_000018.10:g.662309A>C	gnomAD
TYMS	P04818	p.Asp148Gly	rs1329031476	missense variant	-	NC_000018.10:g.662309A>G	gnomAD
TYMS	P04818	p.Met149Ile	rs940952547	missense variant	-	NC_000018.10:g.662313G>A	TOPMed,gnomAD
TYMS	P04818	p.Met149Lys	rs1351759366	missense variant	-	NC_000018.10:g.662312T>A	gnomAD
TYMS	P04818	p.Met149Val	rs779644557	missense variant	-	NC_000018.10:g.662311A>G	ExAC,gnomAD
TYMS	P04818	p.Glu150Gln	rs749119392	missense variant	-	NC_000018.10:g.662314G>C	ExAC,gnomAD
TYMS	P04818	p.Glu150Asp	rs376793375	missense variant	-	NC_000018.10:g.662316A>T	ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Glu150Lys	rs749119392	missense variant	-	NC_000018.10:g.662314G>A	ExAC,gnomAD
TYMS	P04818	p.Ser151Ala	rs1025008996	missense variant	-	NC_000018.10:g.662317T>G	gnomAD
TYMS	P04818	p.Ser154Ala	rs1255807993	missense variant	-	NC_000018.10:g.669077T>G	TOPMed
TYMS	P04818	p.Gln162Arg	rs773099801	missense variant	-	NC_000018.10:g.669102A>G	ExAC,gnomAD
TYMS	P04818	p.Arg163Gly	rs1300447329	missense variant	-	NC_000018.10:g.669104A>G	gnomAD
TYMS	P04818	p.Arg163SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.669102_669103AA>-	NCI-TCGA
TYMS	P04818	p.Val164Ala	rs747127849	missense variant	-	NC_000018.10:g.669108T>C	ExAC,gnomAD
TYMS	P04818	p.Ile165Thr	rs771296240	missense variant	-	NC_000018.10:g.669111T>C	ExAC,gnomAD
TYMS	P04818	p.Asp166Tyr	rs777163457	missense variant	-	NC_000018.10:g.669113G>T	ExAC,gnomAD
TYMS	P04818	p.Lys169Glu	rs1385336277	missense variant	-	NC_000018.10:g.669122A>G	TOPMed,gnomAD
TYMS	P04818	p.Thr170Ser	rs147052596	missense variant	-	NC_000018.10:g.669126C>G	ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Asn171Lys	rs1296735999	missense variant	-	NC_000018.10:g.669130C>G	TOPMed
TYMS	P04818	p.Asp173Glu	rs770269195	missense variant	-	NC_000018.10:g.669136C>A	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Asp174Asn	rs776063973	missense variant	-	NC_000018.10:g.669137G>A	ExAC,gnomAD
TYMS	P04818	p.Arg176Lys	COSM1564009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.669144G>A	NCI-TCGA Cosmic
TYMS	P04818	p.Arg176Thr	rs761487013	missense variant	-	NC_000018.10:g.669144G>C	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Arg176Ile	rs761487013	missense variant	-	NC_000018.10:g.669144G>T	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Arg176Ser	rs767209304	missense variant	-	NC_000018.10:g.669145A>C	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Ile177Thr	rs1453521294	missense variant	-	NC_000018.10:g.669147T>C	TOPMed
TYMS	P04818	p.Ala181Thr	rs1244429666	missense variant	-	NC_000018.10:g.669158G>A	TOPMed,gnomAD
TYMS	P04818	p.Asn183Asp	rs760265884	missense variant	-	NC_000018.10:g.669164A>G	ExAC,gnomAD
TYMS	P04818	p.Arg185Lys	rs753757524	missense variant	-	NC_000018.10:g.669171G>A	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Pro188His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.670698C>A	NCI-TCGA
TYMS	P04818	p.Met190Thr	rs1442205470	missense variant	-	NC_000018.10:g.670704T>C	TOPMed
TYMS	P04818	p.Ala191Val	rs376500183	missense variant	-	NC_000018.10:g.670707C>T	ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Cys195Ser	rs1324146404	missense variant	-	NC_000018.10:g.670719G>C	gnomAD
TYMS	P04818	p.Cys195Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.670720C>A	NCI-TCGA
TYMS	P04818	p.Tyr202His	COSM1480441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.670739T>C	NCI-TCGA Cosmic
TYMS	P04818	p.Glu207Lys	COSM417805	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.670754G>A	NCI-TCGA Cosmic
TYMS	P04818	p.Gln211His	rs1019504442	missense variant	-	NC_000018.10:g.670768G>C	TOPMed
TYMS	P04818	p.Gln211Leu	rs373096647	missense variant	-	NC_000018.10:g.670767A>T	ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Ser216Leu	rs201232749	missense variant	-	NC_000018.10:g.670782C>T	gnomAD
TYMS	P04818	p.Ser216Trp	rs201232749	missense variant	-	NC_000018.10:g.670782C>G	gnomAD
TYMS	P04818	p.Asp218Glu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.670789C>G	NCI-TCGA
TYMS	P04818	p.Met219Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.670791T>G	NCI-TCGA
TYMS	P04818	p.Leu221Phe	rs764943124	missense variant	-	NC_000018.10:g.670796C>T	gnomAD
TYMS	P04818	p.Gly222Ser	rs1396826934	missense variant	-	NC_000018.10:g.670799G>A	TOPMed
TYMS	P04818	p.Ile227Val	rs1162827398	missense variant	-	NC_000018.10:g.670814A>G	TOPMed
TYMS	P04818	p.Ile227Met	rs745957549	missense variant	-	NC_000018.10:g.670816C>G	ExAC,gnomAD
TYMS	P04818	p.Ile227Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.670815T>A	NCI-TCGA
TYMS	P04818	p.Ala228Ser	rs559346114	missense variant	-	NC_000018.10:g.670817G>T	1000Genomes,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Ala228Thr	rs559346114	missense variant	-	NC_000018.10:g.670817G>A	1000Genomes,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Ser229Thr	rs772325743	missense variant	-	NC_000018.10:g.670821G>C	TOPMed
TYMS	P04818	p.Ser229Cys	rs1369690699	missense variant	-	NC_000018.10:g.670820A>T	TOPMed
TYMS	P04818	p.Ser229Asn	rs772325743	missense variant	-	NC_000018.10:g.670821G>A	TOPMed
TYMS	P04818	p.Ser229Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.670822C>G	NCI-TCGA
TYMS	P04818	p.Ala231Thr	rs1304708715	missense variant	-	NC_000018.10:g.670826G>A	gnomAD
TYMS	P04818	p.Thr234Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.670835A>G	NCI-TCGA
TYMS	P04818	p.Tyr235Phe	rs1374898824	missense variant	-	NC_000018.10:g.670839A>T	gnomAD
TYMS	P04818	p.Met236Leu	rs1267313145	missense variant	-	NC_000018.10:g.670841A>C	TOPMed
TYMS	P04818	p.Met236Thr	rs1245548601	missense variant	-	NC_000018.10:g.670842T>C	TOPMed
TYMS	P04818	p.Ile237Met	rs959180600	missense variant	-	NC_000018.10:g.670846T>G	TOPMed
TYMS	P04818	p.Ile237Leu	rs1223804477	missense variant	-	NC_000018.10:g.670844A>C	gnomAD
TYMS	P04818	p.Ala238Val	rs866542441	missense variant	-	NC_000018.10:g.670848C>T	gnomAD
TYMS	P04818	p.Ile240Val	rs1220777084	missense variant	-	NC_000018.10:g.670853A>G	gnomAD
TYMS	P04818	p.Thr241Met	rs750248338	missense variant	-	NC_000018.10:g.670857C>T	TOPMed,gnomAD
TYMS	P04818	p.Gly242Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.670859G>A	NCI-TCGA
TYMS	P04818	p.Gly246Ala	rs1448674651	missense variant	-	NC_000018.10:g.671384G>C	gnomAD
TYMS	P04818	p.Gly246Asp	rs1448674651	missense variant	-	NC_000018.10:g.671384G>A	gnomAD
TYMS	P04818	p.Ile257Val	rs1350693342	missense variant	-	NC_000018.10:g.671416A>G	TOPMed
TYMS	P04818	p.Ile262Ser	rs761730468	missense variant	-	NC_000018.10:g.671432T>G	ExAC,gnomAD
TYMS	P04818	p.Ile262Met	rs143415597	missense variant	-	NC_000018.10:g.671433C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Glu263Gln	rs780321607	missense variant	-	NC_000018.10:g.671434G>C	gnomAD
TYMS	P04818	p.Glu263Lys	rs780321607	missense variant	-	NC_000018.10:g.671434G>A	gnomAD
TYMS	P04818	p.Leu265Arg	rs1390986435	missense variant	-	NC_000018.10:g.671441T>G	TOPMed
TYMS	P04818	p.Arg271Gln	rs1024764626	missense variant	-	NC_000018.10:g.672867G>A	TOPMed
TYMS	P04818	p.Pro277Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.672884C>G	NCI-TCGA
TYMS	P04818	p.Pro277Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.672885C>T	NCI-TCGA
TYMS	P04818	p.Lys278Asn	rs970583280	missense variant	-	NC_000018.10:g.672889G>C	TOPMed
TYMS	P04818	p.Leu279Val	rs1467164009	missense variant	-	NC_000018.10:g.672890C>G	TOPMed
TYMS	P04818	p.Ile281Thr	rs751931801	missense variant	-	NC_000018.10:g.672897T>C	ExAC,gnomAD
TYMS	P04818	p.Arg283Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.672902C>T	NCI-TCGA
TYMS	P04818	p.Val285Ile	rs779604534	missense variant	-	NC_000018.10:g.672908G>A	ExAC,gnomAD
TYMS	P04818	p.Val285Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.672908G>C	NCI-TCGA
TYMS	P04818	p.Glu286Lys	rs369187265	missense variant	-	NC_000018.10:g.672911G>A	ESP,ExAC,gnomAD
TYMS	P04818	p.Glu286Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.672911G>C	NCI-TCGA
TYMS	P04818	p.Lys287Thr	rs1328401362	missense variant	-	NC_000018.10:g.672915A>C	TOPMed
TYMS	P04818	p.Ile288Thr	rs778541361	missense variant	-	NC_000018.10:g.672918T>C	ExAC,gnomAD
TYMS	P04818	p.Asp289Gly	rs748095422	missense variant	-	NC_000018.10:g.672921A>G	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Ala293Thr	rs375413487	missense variant	-	NC_000018.10:g.672932G>A	ESP,ExAC,TOPMed,gnomAD
TYMS	P04818	p.Ile298Thr	rs771147687	missense variant	-	NC_000018.10:g.672948T>C	ExAC,gnomAD
TYMS	P04818	p.Glu299Lys	rs765591852	missense variant	-	NC_000018.10:g.672950G>A	TOPMed
TYMS	P04818	p.Asn302Lys	rs776689763	missense variant	-	NC_000018.10:g.672961T>A	ExAC,gnomAD
TYMS	P04818	p.Pro303Leu	rs759853185	missense variant	-	NC_000018.10:g.672963C>T	ExAC,TOPMed,gnomAD
TYMS	P04818	p.His304Tyr	rs1442195189	missense variant	-	NC_000018.10:g.672965C>T	TOPMed
TYMS	P04818	p.Pro305Arg	rs752774827	missense variant	-	NC_000018.10:g.672969C>G	ExAC,gnomAD
TYMS	P04818	p.Ile307Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.672975T>G	NCI-TCGA
TYMS	P04818	p.Glu310Val	rs763389486	missense variant	-	NC_000018.10:g.672984A>T	ExAC,gnomAD
TYMS	P04818	p.Met311Ile	rs764603167	missense variant	-	NC_000018.10:g.672988G>T	ExAC,TOPMed,gnomAD
TYMS	P04818	p.Met311Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.672986A>T	NCI-TCGA
TYMS	P04818	p.Ala312Val	rs1289319018	missense variant	-	NC_000018.10:g.672990C>T	gnomAD
TYMS	P04818	p.Val313Ile	rs751880836	missense variant	-	NC_000018.10:g.672992G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu4Phe	rs753713804	missense variant	-	NC_000010.11:g.133527405C>T	ExAC,gnomAD
CYP2E1	P05181	p.Gly5Arg	rs1401576094	missense variant	-	NC_000010.11:g.133527408G>A	TOPMed
CYP2E1	P05181	p.Val8Met	rs1338671524	missense variant	-	NC_000010.11:g.133527417G>A	gnomAD
CYP2E1	P05181	p.Leu11Met	rs543066971	missense variant	-	NC_000010.11:g.133527426C>A	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Val12Leu	rs1457901117	missense variant	-	NC_000010.11:g.133527429G>T	gnomAD
CYP2E1	P05181	p.Val12Met	rs1457901117	missense variant	-	NC_000010.11:g.133527429G>A	gnomAD
CYP2E1	P05181	p.Trp13Leu	rs757352167	missense variant	-	NC_000010.11:g.133527433G>T	ExAC,gnomAD
CYP2E1	P05181	p.Ala14Val	rs563043306	missense variant	-	NC_000010.11:g.133527436C>T	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Ala15Val	rs1467974326	missense variant	-	NC_000010.11:g.133527439C>T	TOPMed
CYP2E1	P05181	p.Leu17Phe	rs367957731	missense variant	-	NC_000010.11:g.133527444C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu19Pro	rs780358119	missense variant	-	NC_000010.11:g.133527451T>C	ExAC,gnomAD
CYP2E1	P05181	p.Val20Met	rs1402586895	missense variant	-	NC_000010.11:g.133527453G>A	gnomAD
CYP2E1	P05181	p.Met22Thr	rs1336298850	missense variant	-	NC_000010.11:g.133527460T>C	gnomAD
CYP2E1	P05181	p.Met22Ile	rs772430702	missense variant	-	NC_000010.11:g.133527461G>C	TOPMed
CYP2E1	P05181	p.Met22Val	rs900694954	missense variant	-	NC_000010.11:g.133527459A>G	TOPMed
CYP2E1	P05181	p.Met22Ile	rs772430702	missense variant	-	NC_000010.11:g.133527461G>A	TOPMed
CYP2E1	P05181	p.Trp23Ter	rs1377320782	stop gained	-	NC_000010.11:g.133527463G>A	gnomAD
CYP2E1	P05181	p.Val26Met	rs59868347	missense variant	-	NC_000010.11:g.133527471G>A	TOPMed
CYP2E1	P05181	p.Val26Gly	rs769059259	missense variant	-	NC_000010.11:g.133527472T>G	ExAC,gnomAD
CYP2E1	P05181	p.Ser28Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133527478G>T	NCI-TCGA
CYP2E1	P05181	p.Ser28Asn	rs773963522	missense variant	-	NC_000010.11:g.133527478G>A	ExAC,gnomAD
CYP2E1	P05181	p.Ser28Gly	rs775675704	missense variant	-	NC_000010.11:g.133527477A>G	gnomAD
CYP2E1	P05181	p.Ser29Arg	rs1259959217	missense variant	-	NC_000010.11:g.133527480A>C	gnomAD
CYP2E1	P05181	p.Ser29Thr	rs1317965193	missense variant	-	NC_000010.11:g.133527481G>C	gnomAD
CYP2E1	P05181	p.Trp30Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.133527485G>A	NCI-TCGA
CYP2E1	P05181	p.Trp30Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133527485G>T	NCI-TCGA
CYP2E1	P05181	p.Asn31Ile	rs1443704595	missense variant	-	NC_000010.11:g.133527487A>T	TOPMed
CYP2E1	P05181	p.Leu32Val	COSM1474507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133527489C>G	NCI-TCGA Cosmic
CYP2E1	P05181	p.Pro33Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133527493C>G	NCI-TCGA
CYP2E1	P05181	p.Pro33Ser	rs1260858117	missense variant	-	NC_000010.11:g.133527492C>T	gnomAD
CYP2E1	P05181	p.Pro34Thr	rs1484033642	missense variant	-	NC_000010.11:g.133527495C>A	gnomAD
CYP2E1	P05181	p.Pro36Ala	rs747825060	missense variant	-	NC_000010.11:g.133527501C>G	ExAC,gnomAD
CYP2E1	P05181	p.Phe37Leu	rs1428404245	missense variant	-	NC_000010.11:g.133527506C>G	gnomAD
CYP2E1	P05181	p.Phe37Leu	rs771599544	missense variant	-	NC_000010.11:g.133527504T>C	ExAC,gnomAD
CYP2E1	P05181	p.Pro38Leu	rs76271067	missense variant	-	NC_000010.11:g.133527508C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro38Arg	rs76271067	missense variant	-	NC_000010.11:g.133527508C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile42Met	COSM6129164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133527521C>G	NCI-TCGA Cosmic
CYP2E1	P05181	p.Gly43Arg	rs759372423	missense variant	-	NC_000010.11:g.133527522G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asn44Lys	rs527949682	missense variant	-	NC_000010.11:g.133527527C>A	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Asn44Lys	rs527949682	missense variant	-	NC_000010.11:g.133527527C>G	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Gln47Glu	rs1241054527	missense variant	-	NC_000010.11:g.133527534C>G	TOPMed
CYP2E1	P05181	p.Glu49Ter	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133527540G>T	NCI-TCGA
CYP2E1	P05181	p.Asn52Ser	rs143746211	missense variant	-	NC_000010.11:g.133527550A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asn52Thr	rs143746211	missense variant	-	NC_000010.11:g.133527550A>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile53Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133527553T>C	NCI-TCGA
CYP2E1	P05181	p.Pro54Leu	rs750499891	missense variant	-	NC_000010.11:g.133527556C>T	ExAC,gnomAD
CYP2E1	P05181	p.Pro54Ser	rs1265920662	missense variant	-	NC_000010.11:g.133527555C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Ser56Phe	rs958141259	missense variant	-	NC_000010.11:g.133527562C>T	TOPMed
CYP2E1	P05181	p.Phe57Leu	rs756596289	missense variant	-	NC_000010.11:g.133527564T>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr58Ser	rs780517566	missense variant	-	NC_000010.11:g.133527567A>T	ExAC,gnomAD
CYP2E1	P05181	p.Arg59Trp	rs1259826192	missense variant	-	NC_000010.11:g.133527570C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Arg59Pro	rs779311330	missense variant	-	NC_000010.11:g.133527571G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg59Gln	rs779311330	missense variant	-	NC_000010.11:g.133527571G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln62Glu	rs768536485	missense variant	-	NC_000010.11:g.133528487C>G	ExAC,gnomAD
CYP2E1	P05181	p.Gln62Arg	rs773302720	missense variant	-	NC_000010.11:g.133528488A>G	ExAC,gnomAD
CYP2E1	P05181	p.Arg63His	rs1354838426	missense variant	-	NC_000010.11:g.133528491G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Arg63Cys	rs374426412	missense variant	-	NC_000010.11:g.133528490C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg63Gly	rs374426412	missense variant	-	NC_000010.11:g.133528490C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Phe64Leu	rs1294436417	missense variant	-	NC_000010.11:g.133528495C>A	TOPMed,gnomAD
CYP2E1	P05181	p.Gly65Arg	rs80297454	missense variant	-	NC_000010.11:g.133528496G>A	gnomAD
CYP2E1	P05181	p.Gly65Arg	rs80297454	missense variant	-	NC_000010.11:g.133528496G>C	gnomAD
CYP2E1	P05181	p.Thr69Arg	COSM116829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133528509C>G	NCI-TCGA Cosmic
CYP2E1	P05181	p.Thr69Met	rs1324031177	missense variant	-	NC_000010.11:g.133528509C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Val72Leu	rs35844228	missense variant	-	NC_000010.11:g.133528517G>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val72Met	rs35844228	missense variant	-	NC_000010.11:g.133528517G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val72Leu	rs35844228	missense variant	-	NC_000010.11:g.133528517G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly73Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133528521G>A	NCI-TCGA
CYP2E1	P05181	p.Ser74Leu	rs764575539	missense variant	-	NC_000010.11:g.133528524C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg76Pro	rs72559710	missense variant	-	NC_000010.11:g.133528530G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg76His	rs72559710	missense variant	-	NC_000010.11:g.133528530G>A	UniProt,dbSNP
CYP2E1	P05181	p.Arg76His	VAR_008360	missense variant	-	NC_000010.11:g.133528530G>A	UniProt
CYP2E1	P05181	p.Arg76His	rs72559710	missense variant	-	NC_000010.11:g.133528530G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg76Cys	rs1329756728	missense variant	-	NC_000010.11:g.133528529C>T	TOPMed
CYP2E1	P05181	p.Arg76Leu	rs72559710	missense variant	-	NC_000010.11:g.133528530G>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val78Met	rs756973880	missense variant	-	NC_000010.11:g.133528535G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Met80Ile	rs1179970516	missense variant	-	NC_000010.11:g.133528543G>T	gnomAD
CYP2E1	P05181	p.His81Gln	rs967340990	missense variant	-	NC_000010.11:g.133528546C>G	TOPMed,gnomAD
CYP2E1	P05181	p.His81Leu	rs1468421016	missense variant	-	NC_000010.11:g.133528545A>T	TOPMed,gnomAD
CYP2E1	P05181	p.His81Asp	rs745393299	missense variant	-	NC_000010.11:g.133528544C>G	ExAC,gnomAD
CYP2E1	P05181	p.Gly82Ser	rs755735655	missense variant	-	NC_000010.11:g.133528547G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly82Asp	rs1397166316	missense variant	-	NC_000010.11:g.133528548G>A	TOPMed
CYP2E1	P05181	p.Tyr83Ter	rs779825840	stop gained	-	NC_000010.11:g.133528552C>G	ExAC,gnomAD
CYP2E1	P05181	p.Tyr83His	rs1171967427	missense variant	-	NC_000010.11:g.133528550T>C	TOPMed
CYP2E1	P05181	p.Lys84Arg	rs749315338	missense variant	-	NC_000010.11:g.133528554A>G	ExAC,gnomAD
CYP2E1	P05181	p.Val86Leu	rs1381670040	missense variant	-	NC_000010.11:g.133528559G>T	gnomAD
CYP2E1	P05181	p.Ala89Val	rs747170540	missense variant	-	NC_000010.11:g.133528569C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Glu96Asp	rs771177357	missense variant	-	NC_000010.11:g.133528591G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ser98Leu	rs776646693	missense variant	-	NC_000010.11:g.133528596C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly99Asp	rs1185071578	missense variant	-	NC_000010.11:g.133528599G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Gly99Ala	rs1185071578	missense variant	-	NC_000010.11:g.133528599G>C	TOPMed,gnomAD
CYP2E1	P05181	p.Leu103Phe	rs1047104054	missense variant	-	NC_000010.11:g.133528610C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Pro104Ser	rs764296273	missense variant	-	NC_000010.11:g.133528613C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro104Arg	rs543855005	missense variant	-	NC_000010.11:g.133528614C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro104Leu	rs543855005	missense variant	-	NC_000010.11:g.133528614C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ala105Thr	rs1412420588	missense variant	-	NC_000010.11:g.133528616G>A	gnomAD
CYP2E1	P05181	p.Ala108Glu	rs750140082	missense variant	-	NC_000010.11:g.133528626C>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ala108Val	rs750140082	missense variant	-	NC_000010.11:g.133528626C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.His109Arg	rs911058446	missense variant	-	NC_000010.11:g.133528629A>G	TOPMed
CYP2E1	P05181	p.His109Leu	rs911058446	missense variant	-	NC_000010.11:g.133528629A>T	TOPMed
CYP2E1	P05181	p.Arg110Lys	rs899693063	missense variant	-	NC_000010.11:g.133528632G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Asp111Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133528635A>C	NCI-TCGA
CYP2E1	P05181	p.Gly113Glu	COSM3436048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133531585G>A	NCI-TCGA Cosmic
CYP2E1	P05181	p.Gly113Arg	rs1339182501	missense variant	-	NC_000010.11:g.133528640G>A	gnomAD
CYP2E1	P05181	p.Phe116Cys	rs777555849	missense variant	-	NC_000010.11:g.133531594T>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro120Ser	rs770084630	missense variant	-	NC_000010.11:g.133531605C>T	ExAC,gnomAD
CYP2E1	P05181	p.Pro120Leu	rs1345641544	missense variant	-	NC_000010.11:g.133531606C>T	gnomAD
CYP2E1	P05181	p.Thr121Ile	rs779948307	missense variant	-	NC_000010.11:g.133531609C>T	ExAC,gnomAD
CYP2E1	P05181	p.Trp122Ter	rs1371933261	stop gained	-	NC_000010.11:g.133531613G>A	gnomAD
CYP2E1	P05181	p.Lys123Glu	rs377658981	missense variant	-	NC_000010.11:g.133531614A>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp124Asn	COSM3436049	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133531617G>A	NCI-TCGA Cosmic
CYP2E1	P05181	p.Arg126Trp	rs60719153	missense variant	-	NC_000010.11:g.133531623C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg126Leu	rs56864127	missense variant	-	NC_000010.11:g.133531624G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg126Gln	rs56864127	missense variant	-	NC_000010.11:g.133531624G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg127Gln	rs773718909	missense variant	-	NC_000010.11:g.133531627G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg127Trp	rs772509721	missense variant	-	NC_000010.11:g.133531626C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Phe128Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133531631T>A	NCI-TCGA
CYP2E1	P05181	p.Ser129Phe	COSM3866892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133531633C>T	NCI-TCGA Cosmic
CYP2E1	P05181	p.Leu130Val	rs905415600	missense variant	-	NC_000010.11:g.133531635C>G	gnomAD
CYP2E1	P05181	p.Thr132Ile	rs1290001392	missense variant	-	NC_000010.11:g.133531642C>T	gnomAD
CYP2E1	P05181	p.Leu133Phe	rs148644999	missense variant	-	NC_000010.11:g.133531644C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg134Gln	rs765056111	missense variant	-	NC_000010.11:g.133531648G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg134Trp	rs1239678934	missense variant	-	NC_000010.11:g.133531647C>T	gnomAD
CYP2E1	P05181	p.Tyr136Cys	rs759059865	missense variant	-	NC_000010.11:g.133531654A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Met138Leu	rs1456859372	missense variant	-	NC_000010.11:g.133531659A>T	gnomAD
CYP2E1	P05181	p.Gly139Arg	rs764780713	missense variant	-	NC_000010.11:g.133531662G>A	ExAC,gnomAD
CYP2E1	P05181	p.Gly139Glu	rs752570058	missense variant	-	NC_000010.11:g.133531663G>A	ExAC,gnomAD
CYP2E1	P05181	p.Lys140Arg	rs1323264151	missense variant	-	NC_000010.11:g.133531666A>G	TOPMed
CYP2E1	P05181	p.Gln141Pro	rs758334170	missense variant	-	NC_000010.11:g.133531669A>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln141His	rs777502721	missense variant	-	NC_000010.11:g.133531670G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln141Ter	rs1465213740	stop gained	-	NC_000010.11:g.133531668C>T	gnomAD
CYP2E1	P05181	p.Gly142Ala	rs1311765376	missense variant	-	NC_000010.11:g.133531672G>C	gnomAD
CYP2E1	P05181	p.Gly142Ser	rs751390447	missense variant	-	NC_000010.11:g.133531671G>A	ExAC,gnomAD
CYP2E1	P05181	p.Glu144Asp	rs757050207	missense variant	-	NC_000010.11:g.133531679G>C	ExAC
CYP2E1	P05181	p.Arg146Gln	rs749539588	missense variant	-	NC_000010.11:g.133531684G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg146Trp	rs370419762	missense variant	-	NC_000010.11:g.133531683C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg149Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133531694G>C	NCI-TCGA
CYP2E1	P05181	p.Glu150Ala	rs200955165	missense variant	-	NC_000010.11:g.133531696A>C	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.His152Gln	rs779148806	missense variant	-	NC_000010.11:g.133531703C>A	ExAC,gnomAD
CYP2E1	P05181	p.His152Arg	rs1033628393	missense variant	-	NC_000010.11:g.133531702A>G	TOPMed
CYP2E1	P05181	p.Phe153Val	rs1208223809	missense variant	-	NC_000010.11:g.133531704T>G	gnomAD
CYP2E1	P05181	p.Leu154Arg	rs373427672	missense variant	-	NC_000010.11:g.133531708T>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Glu156Val	rs142907528	missense variant	-	NC_000010.11:g.133531714A>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ala157Thr	COSM1346958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133531716G>A	NCI-TCGA Cosmic
CYP2E1	P05181	p.Leu158Ile	rs776328834	missense variant	-	NC_000010.11:g.133531719C>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg159Ser	rs991726526	missense variant	-	NC_000010.11:g.133531724G>T	TOPMed
CYP2E1	P05181	p.Arg159Gly	rs958935789	missense variant	-	NC_000010.11:g.133531722A>G	TOPMed
CYP2E1	P05181	p.Thr161Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133531729C>G	NCI-TCGA
CYP2E1	P05181	p.Gln162Arg	rs759119506	missense variant	-	NC_000010.11:g.133531732A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln164Ter	rs1353571191	stop gained	-	NC_000010.11:g.133532126C>T	gnomAD
CYP2E1	P05181	p.Pro165Leu	COSM3436051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133532130C>T	NCI-TCGA Cosmic
CYP2E1	P05181	p.Pro165Ser	rs201167793	missense variant	-	NC_000010.11:g.133532129C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro165Ala	rs201167793	missense variant	-	NC_000010.11:g.133532129C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro165Arg	rs1314163001	missense variant	-	NC_000010.11:g.133532130C>G	gnomAD
CYP2E1	P05181	p.Phe166Ile	rs1244383308	missense variant	-	NC_000010.11:g.133532132T>A	gnomAD
CYP2E1	P05181	p.Asp167Glu	rs1320694495	missense variant	-	NC_000010.11:g.133532137C>A	TOPMed
CYP2E1	P05181	p.Asp167Asn	rs1190685941	missense variant	-	NC_000010.11:g.133532135G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Thr169Ser	rs755208649	missense variant	-	NC_000010.11:g.133532142C>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr169Asn	rs755208649	missense variant	-	NC_000010.11:g.133532142C>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr169Ser	rs750206115	missense variant	-	NC_000010.11:g.133532141A>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu171Phe	rs758535504	missense variant	-	NC_000010.11:g.133532147C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile172Met	rs139133362	missense variant	-	NC_000010.11:g.133532152C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile172Val	rs566294180	missense variant	-	NC_000010.11:g.133532150A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly173Cys	rs60452492	missense variant	-	NC_000010.11:g.133532153G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly173Ser	rs60452492	missense variant	-	NC_000010.11:g.133532153G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Cys174Ser	rs923179921	missense variant	-	NC_000010.11:g.133532157G>C	TOPMed
CYP2E1	P05181	p.Ala175Val	rs548262477	missense variant	-	NC_000010.11:g.133532160C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ala175Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133532159G>C	NCI-TCGA
CYP2E1	P05181	p.Ala175Thr	rs56040284	missense variant	-	NC_000010.11:g.133532159G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro176Ser	rs557994567	missense variant	-	NC_000010.11:g.133532162C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Asn178Ser	rs1272538462	missense variant	-	NC_000010.11:g.133532169A>G	gnomAD
CYP2E1	P05181	p.Val179Ile	rs6413419	missense variant	-	NC_000010.11:g.133532171G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val179Phe	rs6413419	missense variant	-	NC_000010.11:g.133532171G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile180Met	rs201427783	missense variant	-	NC_000010.11:g.133532176A>G	ExAC,gnomAD
CYP2E1	P05181	p.Ala181Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133532178C>T	NCI-TCGA
CYP2E1	P05181	p.Asp182Asn	rs76138620	missense variant	-	NC_000010.11:g.133532180G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile183Met	COSM3367971	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133532185C>G	NCI-TCGA Cosmic
CYP2E1	P05181	p.Ile183Thr	rs1318060013	missense variant	-	NC_000010.11:g.133532184T>C	gnomAD
CYP2E1	P05181	p.Leu184Phe	COSM3436053	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133532186C>T	NCI-TCGA Cosmic
CYP2E1	P05181	p.Phe185Leu	rs1220862293	missense variant	-	NC_000010.11:g.133532189T>C	gnomAD
CYP2E1	P05181	p.Phe185Leu	rs1263786649	missense variant	-	NC_000010.11:g.133532191C>A	gnomAD
CYP2E1	P05181	p.Arg186Leu	COSM6065717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133532193G>T	NCI-TCGA Cosmic
CYP2E1	P05181	p.Arg186His	rs200871390	missense variant	-	NC_000010.11:g.133532193G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg186Cys	rs140500826	missense variant	-	NC_000010.11:g.133532192C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp190Asn	rs752959099	missense variant	-	NC_000010.11:g.133532204G>A	ExAC
CYP2E1	P05181	p.Asn192Ser	rs763286285	missense variant	-	NC_000010.11:g.133532211A>G	ExAC,gnomAD
CYP2E1	P05181	p.Glu194Asp	rs764189163	missense variant	-	NC_000010.11:g.133532218G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys195Thr	COSM280263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133532220A>C	NCI-TCGA Cosmic
CYP2E1	P05181	p.Lys195Met	rs1296224047	missense variant	-	NC_000010.11:g.133532220A>T	TOPMed
CYP2E1	P05181	p.Arg198Lys	rs1365307411	missense variant	-	NC_000010.11:g.133532229G>A	TOPMed
CYP2E1	P05181	p.Met200Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133532236G>T	NCI-TCGA
CYP2E1	P05181	p.Met200Leu	rs757401077	missense variant	-	NC_000010.11:g.133532234A>T	ExAC,gnomAD
CYP2E1	P05181	p.His208Arg	rs1351088713	missense variant	-	NC_000010.11:g.133532259A>G	gnomAD
CYP2E1	P05181	p.His208Gln	rs772559232	missense variant	-	NC_000010.11:g.133532260C>G	ExAC,gnomAD
CYP2E1	P05181	p.His208Tyr	rs750987941	missense variant	-	NC_000010.11:g.133532258C>T	ExAC,gnomAD
CYP2E1	P05181	p.Leu209Gln	rs1397676621	missense variant	-	NC_000010.11:g.133532262T>A	TOPMed,gnomAD
CYP2E1	P05181	p.Ser211Gly	rs1281657912	missense variant	-	NC_000010.11:g.133532267A>G	gnomAD
CYP2E1	P05181	p.Thr212Ala	rs778445040	missense variant	-	NC_000010.11:g.133532270A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro213Arg	rs907445349	missense variant	-	NC_000010.11:g.133532274C>G	TOPMed
CYP2E1	P05181	p.Pro213Ser	rs577159401	missense variant	-	NC_000010.11:g.133532273C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln216Lys	rs1194608147	missense variant	-	NC_000010.11:g.133532282C>A	TOPMed
CYP2E1	P05181	p.Asn219Asp	rs41299426	missense variant	-	NC_000010.11:g.133532698A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asn219Asp	rs41299426	missense variant	-	NC_000010.11:g.133532698A>G	UniProt,dbSNP
CYP2E1	P05181	p.Asn219Asp	VAR_055382	missense variant	-	NC_000010.11:g.133532698A>G	UniProt
CYP2E1	P05181	p.Asn220Thr	rs769691101	missense variant	-	NC_000010.11:g.133532702A>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro222Ser	COSM5580762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133532707C>T	NCI-TCGA Cosmic
CYP2E1	P05181	p.Phe224Ser	rs767527110	missense variant	-	NC_000010.11:g.133532714T>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.His226Tyr	rs773301045	missense variant	-	NC_000010.11:g.133532719C>T	ExAC,gnomAD
CYP2E1	P05181	p.Tyr227Ter	rs1433319688	stop gained	-	NC_000010.11:g.133532724C>A	TOPMed
CYP2E1	P05181	p.Leu228Ser	rs761129818	missense variant	-	NC_000010.11:g.133532726T>C	ExAC,gnomAD
CYP2E1	P05181	p.Leu228Trp	rs761129818	missense variant	-	NC_000010.11:g.133532726T>G	ExAC,gnomAD
CYP2E1	P05181	p.Gly230Arg	rs766838345	missense variant	-	NC_000010.11:g.133532731G>A	ExAC,gnomAD
CYP2E1	P05181	p.Gly230Glu	rs1193278838	missense variant	-	NC_000010.11:g.133532732G>A	gnomAD
CYP2E1	P05181	p.Ser231Asn	rs1327451829	missense variant	-	NC_000010.11:g.133532735G>A	TOPMed
CYP2E1	P05181	p.Arg233Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.133532740A>T	NCI-TCGA
CYP2E1	P05181	p.Arg233Thr	rs1245708136	missense variant	-	NC_000010.11:g.133532741G>C	gnomAD
CYP2E1	P05181	p.Arg233Ser	rs1476850745	missense variant	-	NC_000010.11:g.133532742A>C	gnomAD
CYP2E1	P05181	p.Lys234Arg	rs1172122956	missense variant	-	NC_000010.11:g.133532744A>G	gnomAD
CYP2E1	P05181	p.Val235Ile	rs754388548	missense variant	-	NC_000010.11:g.133532746G>A	ExAC,gnomAD
CYP2E1	P05181	p.Ile236Leu	rs375484572	missense variant	-	NC_000010.11:g.133532749A>T	ESP,ExAC,gnomAD
CYP2E1	P05181	p.Ile236Thr	rs569948279	missense variant	-	NC_000010.11:g.133532750T>C	1000Genomes
CYP2E1	P05181	p.Asn238MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.133532751A>-	NCI-TCGA
CYP2E1	P05181	p.Asn238Tyr	rs752221593	missense variant	-	NC_000010.11:g.133532755A>T	ExAC,gnomAD
CYP2E1	P05181	p.Val242Ile	rs758094862	missense variant	-	NC_000010.11:g.133532767G>A	ExAC,gnomAD
CYP2E1	P05181	p.Glu244Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133532774A>T	NCI-TCGA
CYP2E1	P05181	p.Glu244Asp	rs369888957	missense variant	-	NC_000010.11:g.133532775G>C	ESP,ExAC,gnomAD
CYP2E1	P05181	p.Tyr245Ter	rs555344732	stop gained	-	NC_000010.11:g.133532778T>A	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Val246Leu	rs756879881	missense variant	-	NC_000010.11:g.133532779G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val246Met	rs756879881	missense variant	-	NC_000010.11:g.133532779G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val250Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133532791G>A	NCI-TCGA
CYP2E1	P05181	p.Lys251Asn	rs1352765108	missense variant	-	NC_000010.11:g.133532796G>C	gnomAD
CYP2E1	P05181	p.Glu252Asp	rs978002991	missense variant	-	NC_000010.11:g.133532799G>C	TOPMed,gnomAD
CYP2E1	P05181	p.His254Tyr	rs745886844	missense variant	-	NC_000010.11:g.133532803C>T	ExAC,gnomAD
CYP2E1	P05181	p.Gln255Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133532806C>A	NCI-TCGA
CYP2E1	P05181	p.Gln255Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.133532806C>T	NCI-TCGA
CYP2E1	P05181	p.Leu257ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.133532812_133532813insCAAACCTGAAT	NCI-TCGA
CYP2E1	P05181	p.Leu257Val	COSM6065716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133532812C>G	NCI-TCGA Cosmic
CYP2E1	P05181	p.Leu257Arg	rs769409483	missense variant	-	NC_000010.11:g.133532813T>G	ExAC,gnomAD
CYP2E1	P05181	p.Leu257Gln	rs769409483	missense variant	-	NC_000010.11:g.133532813T>A	ExAC,gnomAD
CYP2E1	P05181	p.Asn260Ser	rs748268978	missense variant	-	NC_000010.11:g.133532822A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Cys261Ter	rs772311713	stop gained	-	NC_000010.11:g.133532826T>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro262His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133532828C>A	NCI-TCGA
CYP2E1	P05181	p.Pro262Leu	rs540609626	missense variant	-	NC_000010.11:g.133532828C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg263Trp	rs372834832	missense variant	-	NC_000010.11:g.133532830C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg263Gln	rs766501004	missense variant	-	NC_000010.11:g.133532831G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp264His	rs1390074994	missense variant	-	NC_000010.11:g.133532833G>C	gnomAD
CYP2E1	P05181	p.Leu265Phe	rs776997036	missense variant	-	NC_000010.11:g.133532836C>T	ExAC,gnomAD
CYP2E1	P05181	p.Thr266Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133532840C>G	NCI-TCGA
CYP2E1	P05181	p.Asp267Asn	rs201869253	missense variant	-	NC_000010.11:g.133532842G>A	ESP,ExAC,gnomAD
CYP2E1	P05181	p.Asp267Tyr	rs201869253	missense variant	-	NC_000010.11:g.133532842G>T	ESP,ExAC,gnomAD
CYP2E1	P05181	p.Cys268Ser	rs1271339688	missense variant	-	NC_000010.11:g.133532845T>A	TOPMed
CYP2E1	P05181	p.Cys268Trp	rs1445693067	missense variant	-	NC_000010.11:g.133532847C>G	gnomAD
CYP2E1	P05181	p.Val271Met	rs912558367	missense variant	-	NC_000010.11:g.133532854G>A	TOPMed
CYP2E1	P05181	p.Met273Val	rs753140012	missense variant	-	NC_000010.11:g.133532860A>G	ExAC,gnomAD
CYP2E1	P05181	p.Glu274Gln	rs372404508	missense variant	-	NC_000010.11:g.133532863G>C	ESP,TOPMed
CYP2E1	P05181	p.Glu276Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133533758A>C	NCI-TCGA
CYP2E1	P05181	p.Glu276Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133533756G>A	NCI-TCGA
CYP2E1	P05181	p.Lys277Asn	rs1326260648	missense variant	-	NC_000010.11:g.133533761G>T	TOPMed
CYP2E1	P05181	p.Lys277Arg	rs1449208969	missense variant	-	NC_000010.11:g.133533760A>G	TOPMed
CYP2E1	P05181	p.His278Arg	rs1316414071	missense variant	-	NC_000010.11:g.133533763A>G	gnomAD
CYP2E1	P05181	p.His278Gln	rs1190104776	missense variant	-	NC_000010.11:g.133533764C>A	TOPMed,gnomAD
CYP2E1	P05181	p.Ser279Arg	rs1383519539	missense variant	-	NC_000010.11:g.133533767T>G	TOPMed
CYP2E1	P05181	p.Ala280Val	rs751192911	missense variant	-	NC_000010.11:g.133533769C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg282His	rs749979006	missense variant	-	NC_000010.11:g.133533775G>A	ExAC,gnomAD
CYP2E1	P05181	p.Arg282Cys	rs375149895	missense variant	-	NC_000010.11:g.133533774C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg282Ser	rs375149895	missense variant	-	NC_000010.11:g.133533774C>A	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr285Ala	rs138201091	missense variant	-	NC_000010.11:g.133533783A>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr285Ile	rs1195094707	missense variant	-	NC_000010.11:g.133533784C>T	TOPMed
CYP2E1	P05181	p.Met286Val	rs1373503578	missense variant	-	NC_000010.11:g.133533786A>G	gnomAD
CYP2E1	P05181	p.Asp287Asn	COSM4012941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133533789G>A	NCI-TCGA Cosmic
CYP2E1	P05181	p.Asp287Glu	COSM3806821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133533791C>A	NCI-TCGA Cosmic
CYP2E1	P05181	p.Gly288Ser	rs61710826	missense variant	-	NC_000010.11:g.133533792G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile289Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133533797C>G	NCI-TCGA
CYP2E1	P05181	p.Thr290Ile	rs778681344	missense variant	-	NC_000010.11:g.133533799C>T	ExAC,gnomAD
CYP2E1	P05181	p.Val291Met	rs771160948	missense variant	-	NC_000010.11:g.133533801G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ala294Val	rs745942247	missense variant	-	NC_000010.11:g.133533811C>T	ExAC,gnomAD
CYP2E1	P05181	p.Asp295Asn	rs1007026512	missense variant	-	NC_000010.11:g.133533813G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Ala299Ser	rs1264055833	missense variant	-	NC_000010.11:g.133533825G>T	gnomAD
CYP2E1	P05181	p.Ala299Val	rs533468318	missense variant	-	NC_000010.11:g.133533826C>T	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Gly300Arg	rs761515989	missense variant	-	NC_000010.11:g.133533828G>A	ExAC,gnomAD
CYP2E1	P05181	p.Thr301Ser	rs750089893	missense variant	-	NC_000010.11:g.133533831A>T	ExAC,gnomAD
CYP2E1	P05181	p.Thr303Asn	rs201120875	missense variant	-	NC_000010.11:g.133533838C>A	1000Genomes
CYP2E1	P05181	p.Thr304Ser	rs765869376	missense variant	-	NC_000010.11:g.133533841C>G	ExAC,gnomAD
CYP2E1	P05181	p.Ser305Asn	rs753706527	missense variant	-	NC_000010.11:g.133533844G>A	ExAC,gnomAD
CYP2E1	P05181	p.Thr307Ile	rs1385845866	missense variant	-	NC_000010.11:g.133533850C>T	gnomAD
CYP2E1	P05181	p.Arg309Ile	rs764958966	missense variant	-	NC_000010.11:g.133533856G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly311Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133533862G>A	NCI-TCGA
CYP2E1	P05181	p.Leu312Phe	rs374740281	missense variant	-	NC_000010.11:g.133533864C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu313Gln	rs973002990	missense variant	-	NC_000010.11:g.133533868T>A	gnomAD
CYP2E1	P05181	p.Ile314Ser	rs142845267	missense variant	-	NC_000010.11:g.133533871T>G	ESP
CYP2E1	P05181	p.Met316Leu	rs746145983	missense variant	-	NC_000010.11:g.133533876A>C	ExAC,gnomAD
CYP2E1	P05181	p.Tyr318His	rs756153015	missense variant	-	NC_000010.11:g.133533882T>C	ExAC,gnomAD
CYP2E1	P05181	p.Pro319His	rs984244601	missense variant	-	NC_000010.11:g.133533886C>A	TOPMed,gnomAD
CYP2E1	P05181	p.Glu320Ala	COSM465474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133533889A>C	NCI-TCGA Cosmic
CYP2E1	P05181	p.Ile321Val	rs1251438410	missense variant	-	NC_000010.11:g.133533891A>G	gnomAD
CYP2E1	P05181	p.Ile321Met	rs915909	missense variant	-	NC_000010.11:g.133533893C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Glu322Lys	rs138223492	missense variant	-	NC_000010.11:g.133533894G>A	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys324Glu	rs773459833	missense variant	-	NC_000010.11:g.133537065A>G	ExAC,gnomAD
CYP2E1	P05181	p.Leu325Val	rs746620834	missense variant	-	NC_000010.11:g.133537068C>G	ExAC,gnomAD
CYP2E1	P05181	p.Glu328Asp	rs980349044	missense variant	-	NC_000010.11:g.133537079A>T	TOPMed
CYP2E1	P05181	p.Glu328Asp	rs980349044	missense variant	-	NC_000010.11:g.133537079A>C	TOPMed
CYP2E1	P05181	p.Glu328Ter	rs969893824	stop gained	-	NC_000010.11:g.133537077G>T	TOPMed,gnomAD
CYP2E1	P05181	p.Ile329Thr	rs770517759	missense variant	-	NC_000010.11:g.133537081T>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp330Tyr	rs1337093867	missense variant	-	NC_000010.11:g.133537083G>T	gnomAD
CYP2E1	P05181	p.Val332Leu	rs1212628802	missense variant	-	NC_000010.11:g.133537089G>T	TOPMed
CYP2E1	P05181	p.Ile333Thr	rs764799317	missense variant	-	NC_000010.11:g.133537093T>C	ExAC,gnomAD
CYP2E1	P05181	p.Ile333Met	rs775343042	missense variant	-	NC_000010.11:g.133537094T>G	ExAC,gnomAD
CYP2E1	P05181	p.Ile333Val	rs1466872326	missense variant	-	NC_000010.11:g.133537092A>G	TOPMed
CYP2E1	P05181	p.Gly334Arg	rs1233332302	missense variant	-	NC_000010.11:g.133537095G>A	gnomAD
CYP2E1	P05181	p.Pro335Ala	rs762813109	missense variant	-	NC_000010.11:g.133537098C>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro335Thr	rs762813109	missense variant	-	NC_000010.11:g.133537098C>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg337Ter	rs200228968	stop gained	-	NC_000010.11:g.133537104C>T	1000Genomes,TOPMed,gnomAD
CYP2E1	P05181	p.Arg337Leu	rs759707874	missense variant	-	NC_000010.11:g.133537105G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg337Gln	rs759707874	missense variant	-	NC_000010.11:g.133537105G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro339Thr	COSM3414858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133537110C>A	NCI-TCGA Cosmic
CYP2E1	P05181	p.Pro339Ser	COSM3436058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133537110C>T	NCI-TCGA Cosmic
CYP2E1	P05181	p.Ile341Met	rs61644766	missense variant	-	NC_000010.11:g.133537118C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys342Glu	rs754169072	missense variant	-	NC_000010.11:g.133537119A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp343Asn	rs1408513149	missense variant	-	NC_000010.11:g.133537122G>A	gnomAD
CYP2E1	P05181	p.Arg344Lys	rs1173015245	missense variant	-	NC_000010.11:g.133537126G>A	gnomAD
CYP2E1	P05181	p.Gln345Arg	rs912887278	missense variant	-	NC_000010.11:g.133537129A>G	TOPMed
CYP2E1	P05181	p.Glu346Gln	COSM3790634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133537131G>C	NCI-TCGA Cosmic
CYP2E1	P05181	p.Met347Thr	rs1042802318	missense variant	-	NC_000010.11:g.133537135T>C	TOPMed
CYP2E1	P05181	p.Met347Leu	rs1355581068	missense variant	-	NC_000010.11:g.133537134A>T	gnomAD
CYP2E1	P05181	p.Tyr349Cys	rs753186824	missense variant	-	NC_000010.11:g.133537141A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Met350Val	rs1396367463	missense variant	-	NC_000010.11:g.133537143A>G	TOPMed
CYP2E1	P05181	p.Met350Ile	COSM3436060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133537145G>A	NCI-TCGA Cosmic
CYP2E1	P05181	p.Met350Arg	rs150514905	missense variant	-	NC_000010.11:g.133537144T>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp351Gly	COSM4012942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133537147A>G	NCI-TCGA Cosmic
CYP2E1	P05181	p.Ala352Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133537149G>T	NCI-TCGA
CYP2E1	P05181	p.Ala352Val	COSM3436061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133537150C>T	NCI-TCGA Cosmic
CYP2E1	P05181	p.Val354Leu	rs747302212	missense variant	-	NC_000010.11:g.133537155G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val354Met	rs747302212	missense variant	-	NC_000010.11:g.133537155G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg359Trp	rs780820318	missense variant	-	NC_000010.11:g.133537170C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg359Gln	rs745528149	missense variant	-	NC_000010.11:g.133537171G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg359Pro	rs745528149	missense variant	-	NC_000010.11:g.133537171G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Phe360Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133537175C>A	NCI-TCGA
CYP2E1	P05181	p.Ile361Phe	rs769239142	missense variant	-	NC_000010.11:g.133537176A>T	ExAC,gnomAD
CYP2E1	P05181	p.Thr362Ile	rs372279263	missense variant	-	NC_000010.11:g.133537180C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val364Met	rs762908601	missense variant	-	NC_000010.11:g.133537185G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val364Ala	rs1436679183	missense variant	-	NC_000010.11:g.133537186T>C	TOPMed
CYP2E1	P05181	p.Pro365Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133537188C>T	NCI-TCGA
CYP2E1	P05181	p.Ser366Cys	rs41299434	missense variant	-	NC_000010.11:g.133537192C>G	1000Genomes
CYP2E1	P05181	p.Ser366Cys	rs41299434	missense variant	-	NC_000010.11:g.133537192C>G	UniProt,dbSNP
CYP2E1	P05181	p.Ser366Cys	VAR_055383	missense variant	-	NC_000010.11:g.133537192C>G	UniProt
CYP2E1	P05181	p.Asn367Asp	rs1239952047	missense variant	-	NC_000010.11:g.133537194A>G	gnomAD
CYP2E1	P05181	p.Pro369Leu	rs768448978	missense variant	-	NC_000010.11:g.133537201C>T	ExAC,gnomAD
CYP2E1	P05181	p.Glu371Gly	rs1005539701	missense variant	-	NC_000010.11:g.133537207A>G	TOPMed,gnomAD
CYP2E1	P05181	p.Thr373Ala	rs59981143	missense variant	-	NC_000010.11:g.133537212A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg374Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133537216G>T	NCI-TCGA
CYP2E1	P05181	p.Arg374Gly	rs370530375	missense variant	-	NC_000010.11:g.133537215C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg374Gln	rs767486762	missense variant	-	NC_000010.11:g.133537216G>A	ExAC,gnomAD
CYP2E1	P05181	p.Arg374Ter	rs370530375	stop gained	-	NC_000010.11:g.133537215C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp375Glu	rs759847516	missense variant	-	NC_000010.11:g.133537220C>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp375Gly	rs754046416	missense variant	-	NC_000010.11:g.133537219A>G	ExAC,gnomAD
CYP2E1	P05181	p.Phe378Leu	rs765355752	missense variant	-	NC_000010.11:g.133537229C>A	ExAC,gnomAD
CYP2E1	P05181	p.Gly380Val	rs752748963	missense variant	-	NC_000010.11:g.133537234G>T	ExAC,gnomAD
CYP2E1	P05181	p.Gly380Glu	rs752748963	missense variant	-	NC_000010.11:g.133537234G>A	ExAC,gnomAD
CYP2E1	P05181	p.Tyr381His	rs1433121603	missense variant	-	NC_000010.11:g.133537236T>C	gnomAD
CYP2E1	P05181	p.Leu382Arg	COSM916532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133537240T>G	NCI-TCGA Cosmic
CYP2E1	P05181	p.Leu382Phe	rs1437497706	missense variant	-	NC_000010.11:g.133537239C>T	TOPMed
CYP2E1	P05181	p.Ile383Met	rs752179109	missense variant	-	NC_000010.11:g.133537244C>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro384Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133537245C>A	NCI-TCGA
CYP2E1	P05181	p.Lys385Arg	rs199856651	missense variant	-	NC_000010.11:g.133537249A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val388Leu	COSM2156359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133537757G>C	NCI-TCGA Cosmic
CYP2E1	P05181	p.Val388Ala	rs1327701553	missense variant	-	NC_000010.11:g.133537758T>C	gnomAD
CYP2E1	P05181	p.Val388Ile	rs1425889399	missense variant	-	NC_000010.11:g.133537757G>A	TOPMed
CYP2E1	P05181	p.Val389Ile	rs55897648	missense variant	-	NC_000010.11:g.133537760G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val389Leu	rs55897648	missense variant	-	NC_000010.11:g.133537760G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu393Val	rs757788272	missense variant	-	NC_000010.11:g.133537772C>G	ExAC,gnomAD
CYP2E1	P05181	p.Asp394Gly	rs60207639	missense variant	-	NC_000010.11:g.133537776A>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp394Glu	rs1223857405	missense variant	-	NC_000010.11:g.133537777C>A	gnomAD
CYP2E1	P05181	p.Val396Leu	rs59656378	missense variant	-	NC_000010.11:g.133537781G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Tyr398Phe	rs1027409770	missense variant	-	NC_000010.11:g.133537788A>T	TOPMed
CYP2E1	P05181	p.Asn400Ser	rs756521777	missense variant	-	NC_000010.11:g.133537794A>G	ExAC,gnomAD
CYP2E1	P05181	p.Gln401Pro	rs779561569	missense variant	-	NC_000010.11:g.133537797A>C	ExAC,gnomAD
CYP2E1	P05181	p.Glu402Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133537801A>T	NCI-TCGA
CYP2E1	P05181	p.Asp405Glu	rs749034745	missense variant	-	NC_000010.11:g.133537810T>A	ExAC,gnomAD
CYP2E1	P05181	p.Pro406Ala	rs200177135	missense variant	-	NC_000010.11:g.133537811C>G	TOPMed,gnomAD
CYP2E1	P05181	p.Glu407Gly	rs1352233539	missense variant	-	NC_000010.11:g.133537815A>G	TOPMed
CYP2E1	P05181	p.Lys408Glu	rs1304810209	missense variant	-	NC_000010.11:g.133537817A>G	gnomAD
CYP2E1	P05181	p.Phe409Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133537822T>A	NCI-TCGA
CYP2E1	P05181	p.Phe409Leu	rs1414127010	missense variant	-	NC_000010.11:g.133537820T>C	TOPMed
CYP2E1	P05181	p.Glu412Ter	rs1362640892	stop gained	-	NC_000010.11:g.133537829G>T	gnomAD
CYP2E1	P05181	p.Asn416Ser	rs1304386663	missense variant	-	NC_000010.11:g.133537842A>G	TOPMed
CYP2E1	P05181	p.Asn418Ser	rs57702102	missense variant	-	NC_000010.11:g.133537848A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys420Glu	rs1328203136	missense variant	-	NC_000010.11:g.133537853A>G	gnomAD
CYP2E1	P05181	p.Lys420Met	rs748046628	missense variant	-	NC_000010.11:g.133537854A>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Phe421Leu	rs2515641	missense variant	-	NC_000010.11:g.133537858C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ser424Gly	rs142767992	missense variant	-	NC_000010.11:g.133537865A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Phe427Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133537876C>G	NCI-TCGA
CYP2E1	P05181	p.Pro429Ala	rs151041343	missense variant	-	NC_000010.11:g.133537880C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg435Ter	rs1182003917	stop gained	-	NC_000010.11:g.133538785C>T	TOPMed
CYP2E1	P05181	p.Val436Ala	rs761257042	missense variant	-	NC_000010.11:g.133538789T>C	ExAC,gnomAD
CYP2E1	P05181	p.Cys437Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133538792G>A	NCI-TCGA
CYP2E1	P05181	p.Cys437Phe	rs1471904078	missense variant	-	NC_000010.11:g.133538792G>T	TOPMed
CYP2E1	P05181	p.Gly439Val	COSM6065715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133538798G>T	NCI-TCGA Cosmic
CYP2E1	P05181	p.Gly439Arg	rs1254397224	missense variant	-	NC_000010.11:g.133538797G>A	TOPMed
CYP2E1	P05181	p.Glu440Gly	rs1196807939	missense variant	-	NC_000010.11:g.133538801A>G	TOPMed
CYP2E1	P05181	p.Ala443Asp	rs754256199	missense variant	-	NC_000010.11:g.133538810C>A	ExAC,gnomAD
CYP2E1	P05181	p.Arg444His	rs764917641	missense variant	-	NC_000010.11:g.133538813G>A	ExAC,gnomAD
CYP2E1	P05181	p.Arg444Cys	rs140969399	missense variant	-	NC_000010.11:g.133538812C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg444Leu	rs764917641	missense variant	-	NC_000010.11:g.133538813G>T	ExAC,gnomAD
CYP2E1	P05181	p.Arg444Pro	rs764917641	missense variant	-	NC_000010.11:g.133538813G>C	ExAC,gnomAD
CYP2E1	P05181	p.Met445Ile	rs199855848	missense variant	-	NC_000010.11:g.133538817G>C	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Leu450Ser	rs1383662089	missense variant	-	NC_000010.11:g.133538831T>C	gnomAD
CYP2E1	P05181	p.Ala453Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133538840C>A	NCI-TCGA
CYP2E1	P05181	p.Ala453Val	rs369066427	missense variant	-	NC_000010.11:g.133538840C>T	ESP,TOPMed
CYP2E1	P05181	p.Ala453Thr	rs1297297780	missense variant	-	NC_000010.11:g.133538839G>A	TOPMed,gnomAD
CYP2E1	P05181	p.His457Leu	rs28969387	missense variant	-	NC_000010.11:g.133538852A>T	UniProt,dbSNP
CYP2E1	P05181	p.His457Leu	VAR_024727	missense variant	-	NC_000010.11:g.133538852A>T	UniProt
CYP2E1	P05181	p.His457Leu	rs28969387	missense variant	-	NC_000010.11:g.133538852A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.His457Tyr	rs1266958540	missense variant	-	NC_000010.11:g.133538851C>T	TOPMed
CYP2E1	P05181	p.Leu463Val	COSM4833359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133538869C>G	NCI-TCGA Cosmic
CYP2E1	P05181	p.Val464Ala	rs1395292003	missense variant	-	NC_000010.11:g.133538873T>C	TOPMed
CYP2E1	P05181	p.Val464Ile	rs187941410	missense variant	-	NC_000010.11:g.133538872G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp465Val	rs769536455	missense variant	-	NC_000010.11:g.133538876A>T	ExAC,TOPMed
CYP2E1	P05181	p.Pro466Leu	rs748372752	missense variant	-	NC_000010.11:g.133538879C>T	ExAC,gnomAD
CYP2E1	P05181	p.Pro466Ser	rs779104532	missense variant	-	NC_000010.11:g.133538878C>T	ExAC,gnomAD
CYP2E1	P05181	p.Lys467Asn	rs1256621896	missense variant	-	NC_000010.11:g.133538883G>T	gnomAD
CYP2E1	P05181	p.Asp468Gly	rs1203554290	missense variant	-	NC_000010.11:g.133538885A>G	gnomAD
CYP2E1	P05181	p.Asp468Asn	rs1485596221	missense variant	-	NC_000010.11:g.133538884G>A	gnomAD
CYP2E1	P05181	p.Asp470Tyr	rs199954662	missense variant	-	NC_000010.11:g.133538890G>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp470Asn	rs199954662	missense variant	-	NC_000010.11:g.133538890G>A	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu471Phe	rs771433748	missense variant	-	NC_000010.11:g.133538893C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile474Leu	rs1393164404	missense variant	-	NC_000010.11:g.133538902A>C	gnomAD
CYP2E1	P05181	p.His475Pro	rs945150523	missense variant	-	NC_000010.11:g.133538906A>C	TOPMed,gnomAD
CYP2E1	P05181	p.Ile476Val	rs1176734765	missense variant	-	NC_000010.11:g.133538908A>G	gnomAD
CYP2E1	P05181	p.Gly477Arg	rs1453966988	missense variant	-	NC_000010.11:g.133538911G>A	gnomAD
CYP2E1	P05181	p.Gly477Val	rs1041844199	missense variant	-	NC_000010.11:g.133538912G>T	TOPMed
CYP2E1	P05181	p.Phe478Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.133538914T>G	NCI-TCGA
CYP2E1	P05181	p.Cys480Phe	COSM6129162	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.133538921G>T	NCI-TCGA Cosmic
CYP2E1	P05181	p.Pro483Ser	rs1182952256	missense variant	-	NC_000010.11:g.133538929C>T	TOPMed
CYP2E1	P05181	p.Arg484His	rs55982231	missense variant	-	NC_000010.11:g.133538933G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg484Ser	rs1451003704	missense variant	-	NC_000010.11:g.133538932C>A	TOPMed,gnomAD
CYP2E1	P05181	p.Arg484Cys	rs1451003704	missense variant	-	NC_000010.11:g.133538932C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Cys488Tyr	rs1184993512	missense variant	-	NC_000010.11:g.133538945G>A	TOPMed
CYP2E1	P05181	p.Cys488Trp	rs1436249380	missense variant	-	NC_000010.11:g.133538946T>G	gnomAD
CYP2E1	P05181	p.Pro491Leu	rs1325698643	missense variant	-	NC_000010.11:g.133538954C>T	gnomAD
CYP2E1	P05181	p.Arg492His	rs147916524	missense variant	-	NC_000010.11:g.133538957G>A	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg492Cys	rs759928543	missense variant	-	NC_000010.11:g.133538956C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ser493Leu	rs752341899	missense variant	-	NC_000010.11:g.133538960C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu4Phe	rs753713804	missense variant	-	NC_000010.11:g.133527405C>T	ExAC,gnomAD
CYP2E1	P05181	p.Gly5Arg	rs1401576094	missense variant	-	NC_000010.11:g.133527408G>A	TOPMed
CYP2E1	P05181	p.Val8Met	rs1338671524	missense variant	-	NC_000010.11:g.133527417G>A	gnomAD
CYP2E1	P05181	p.Leu11Met	rs543066971	missense variant	-	NC_000010.11:g.133527426C>A	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Val12Leu	rs1457901117	missense variant	-	NC_000010.11:g.133527429G>T	gnomAD
CYP2E1	P05181	p.Val12Met	rs1457901117	missense variant	-	NC_000010.11:g.133527429G>A	gnomAD
CYP2E1	P05181	p.Trp13Leu	rs757352167	missense variant	-	NC_000010.11:g.133527433G>T	ExAC,gnomAD
CYP2E1	P05181	p.Ala14Val	rs563043306	missense variant	-	NC_000010.11:g.133527436C>T	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Ala15Val	rs1467974326	missense variant	-	NC_000010.11:g.133527439C>T	TOPMed
CYP2E1	P05181	p.Leu17Phe	rs367957731	missense variant	-	NC_000010.11:g.133527444C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu19Pro	rs780358119	missense variant	-	NC_000010.11:g.133527451T>C	ExAC,gnomAD
CYP2E1	P05181	p.Val20Met	rs1402586895	missense variant	-	NC_000010.11:g.133527453G>A	gnomAD
CYP2E1	P05181	p.Met22Ile	rs772430702	missense variant	-	NC_000010.11:g.133527461G>C	TOPMed
CYP2E1	P05181	p.Met22Thr	rs1336298850	missense variant	-	NC_000010.11:g.133527460T>C	gnomAD
CYP2E1	P05181	p.Met22Ile	rs772430702	missense variant	-	NC_000010.11:g.133527461G>A	TOPMed
CYP2E1	P05181	p.Met22Val	rs900694954	missense variant	-	NC_000010.11:g.133527459A>G	TOPMed
CYP2E1	P05181	p.Trp23Ter	rs1377320782	stop gained	-	NC_000010.11:g.133527463G>A	gnomAD
CYP2E1	P05181	p.Val26Met	rs59868347	missense variant	-	NC_000010.11:g.133527471G>A	TOPMed
CYP2E1	P05181	p.Val26Gly	rs769059259	missense variant	-	NC_000010.11:g.133527472T>G	ExAC,gnomAD
CYP2E1	P05181	p.Ser28Gly	rs775675704	missense variant	-	NC_000010.11:g.133527477A>G	gnomAD
CYP2E1	P05181	p.Ser28Asn	rs773963522	missense variant	-	NC_000010.11:g.133527478G>A	ExAC,gnomAD
CYP2E1	P05181	p.Ser29Arg	rs1259959217	missense variant	-	NC_000010.11:g.133527480A>C	gnomAD
CYP2E1	P05181	p.Ser29Thr	rs1317965193	missense variant	-	NC_000010.11:g.133527481G>C	gnomAD
CYP2E1	P05181	p.Asn31Ile	rs1443704595	missense variant	-	NC_000010.11:g.133527487A>T	TOPMed
CYP2E1	P05181	p.Pro33Ser	rs1260858117	missense variant	-	NC_000010.11:g.133527492C>T	gnomAD
CYP2E1	P05181	p.Pro34Thr	rs1484033642	missense variant	-	NC_000010.11:g.133527495C>A	gnomAD
CYP2E1	P05181	p.Pro36Ala	rs747825060	missense variant	-	NC_000010.11:g.133527501C>G	ExAC,gnomAD
CYP2E1	P05181	p.Phe37Leu	rs1428404245	missense variant	-	NC_000010.11:g.133527506C>G	gnomAD
CYP2E1	P05181	p.Phe37Leu	rs771599544	missense variant	-	NC_000010.11:g.133527504T>C	ExAC,gnomAD
CYP2E1	P05181	p.Pro38Leu	rs76271067	missense variant	-	NC_000010.11:g.133527508C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro38Arg	rs76271067	missense variant	-	NC_000010.11:g.133527508C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly43Arg	rs759372423	missense variant	-	NC_000010.11:g.133527522G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asn44Lys	rs527949682	missense variant	-	NC_000010.11:g.133527527C>G	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Asn44Lys	rs527949682	missense variant	-	NC_000010.11:g.133527527C>A	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Gln47Glu	rs1241054527	missense variant	-	NC_000010.11:g.133527534C>G	TOPMed
CYP2E1	P05181	p.Asn52Ser	rs143746211	missense variant	-	NC_000010.11:g.133527550A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asn52Thr	rs143746211	missense variant	-	NC_000010.11:g.133527550A>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro54Ser	rs1265920662	missense variant	-	NC_000010.11:g.133527555C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Pro54Leu	rs750499891	missense variant	-	NC_000010.11:g.133527556C>T	ExAC,gnomAD
CYP2E1	P05181	p.Ser56Phe	rs958141259	missense variant	-	NC_000010.11:g.133527562C>T	TOPMed
CYP2E1	P05181	p.Phe57Leu	rs756596289	missense variant	-	NC_000010.11:g.133527564T>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr58Ser	rs780517566	missense variant	-	NC_000010.11:g.133527567A>T	ExAC,gnomAD
CYP2E1	P05181	p.Arg59Trp	rs1259826192	missense variant	-	NC_000010.11:g.133527570C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Arg59Gln	rs779311330	missense variant	-	NC_000010.11:g.133527571G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg59Pro	rs779311330	missense variant	-	NC_000010.11:g.133527571G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln62Glu	rs768536485	missense variant	-	NC_000010.11:g.133528487C>G	ExAC,gnomAD
CYP2E1	P05181	p.Gln62Arg	rs773302720	missense variant	-	NC_000010.11:g.133528488A>G	ExAC,gnomAD
CYP2E1	P05181	p.Arg63His	rs1354838426	missense variant	-	NC_000010.11:g.133528491G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Arg63Gly	rs374426412	missense variant	-	NC_000010.11:g.133528490C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg63Cys	rs374426412	missense variant	-	NC_000010.11:g.133528490C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Phe64Leu	rs1294436417	missense variant	-	NC_000010.11:g.133528495C>A	TOPMed,gnomAD
CYP2E1	P05181	p.Gly65Arg	rs80297454	missense variant	-	NC_000010.11:g.133528496G>A	gnomAD
CYP2E1	P05181	p.Gly65Arg	rs80297454	missense variant	-	NC_000010.11:g.133528496G>C	gnomAD
CYP2E1	P05181	p.Thr69Met	rs1324031177	missense variant	-	NC_000010.11:g.133528509C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Val72Met	rs35844228	missense variant	-	NC_000010.11:g.133528517G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val72Leu	rs35844228	missense variant	-	NC_000010.11:g.133528517G>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val72Leu	rs35844228	missense variant	-	NC_000010.11:g.133528517G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ser74Leu	rs764575539	missense variant	-	NC_000010.11:g.133528524C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg76Cys	rs1329756728	missense variant	-	NC_000010.11:g.133528529C>T	TOPMed
CYP2E1	P05181	p.Arg76His	rs72559710	missense variant	-	NC_000010.11:g.133528530G>A	UniProt,dbSNP
CYP2E1	P05181	p.Arg76His	VAR_008360	missense variant	-	NC_000010.11:g.133528530G>A	UniProt
CYP2E1	P05181	p.Arg76His	rs72559710	missense variant	-	NC_000010.11:g.133528530G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg76Pro	rs72559710	missense variant	-	NC_000010.11:g.133528530G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg76Leu	rs72559710	missense variant	-	NC_000010.11:g.133528530G>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val78Met	rs756973880	missense variant	-	NC_000010.11:g.133528535G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Met80Ile	rs1179970516	missense variant	-	NC_000010.11:g.133528543G>T	gnomAD
CYP2E1	P05181	p.His81Gln	rs967340990	missense variant	-	NC_000010.11:g.133528546C>G	TOPMed,gnomAD
CYP2E1	P05181	p.His81Asp	rs745393299	missense variant	-	NC_000010.11:g.133528544C>G	ExAC,gnomAD
CYP2E1	P05181	p.His81Leu	rs1468421016	missense variant	-	NC_000010.11:g.133528545A>T	TOPMed,gnomAD
CYP2E1	P05181	p.Gly82Ser	rs755735655	missense variant	-	NC_000010.11:g.133528547G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly82Asp	rs1397166316	missense variant	-	NC_000010.11:g.133528548G>A	TOPMed
CYP2E1	P05181	p.Tyr83Ter	rs779825840	stop gained	-	NC_000010.11:g.133528552C>G	ExAC,gnomAD
CYP2E1	P05181	p.Tyr83His	rs1171967427	missense variant	-	NC_000010.11:g.133528550T>C	TOPMed
CYP2E1	P05181	p.Lys84Arg	rs749315338	missense variant	-	NC_000010.11:g.133528554A>G	ExAC,gnomAD
CYP2E1	P05181	p.Val86Leu	rs1381670040	missense variant	-	NC_000010.11:g.133528559G>T	gnomAD
CYP2E1	P05181	p.Ala89Val	rs747170540	missense variant	-	NC_000010.11:g.133528569C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Glu96Asp	rs771177357	missense variant	-	NC_000010.11:g.133528591G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ser98Leu	rs776646693	missense variant	-	NC_000010.11:g.133528596C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly99Asp	rs1185071578	missense variant	-	NC_000010.11:g.133528599G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Gly99Ala	rs1185071578	missense variant	-	NC_000010.11:g.133528599G>C	TOPMed,gnomAD
CYP2E1	P05181	p.Leu103Phe	rs1047104054	missense variant	-	NC_000010.11:g.133528610C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Pro104Ser	rs764296273	missense variant	-	NC_000010.11:g.133528613C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro104Arg	rs543855005	missense variant	-	NC_000010.11:g.133528614C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro104Leu	rs543855005	missense variant	-	NC_000010.11:g.133528614C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ala105Thr	rs1412420588	missense variant	-	NC_000010.11:g.133528616G>A	gnomAD
CYP2E1	P05181	p.Ala108Glu	rs750140082	missense variant	-	NC_000010.11:g.133528626C>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ala108Val	rs750140082	missense variant	-	NC_000010.11:g.133528626C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.His109Arg	rs911058446	missense variant	-	NC_000010.11:g.133528629A>G	TOPMed
CYP2E1	P05181	p.His109Leu	rs911058446	missense variant	-	NC_000010.11:g.133528629A>T	TOPMed
CYP2E1	P05181	p.Arg110Lys	rs899693063	missense variant	-	NC_000010.11:g.133528632G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Gly113Arg	rs1339182501	missense variant	-	NC_000010.11:g.133528640G>A	gnomAD
CYP2E1	P05181	p.Phe116Cys	rs777555849	missense variant	-	NC_000010.11:g.133531594T>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro120Ser	rs770084630	missense variant	-	NC_000010.11:g.133531605C>T	ExAC,gnomAD
CYP2E1	P05181	p.Pro120Leu	rs1345641544	missense variant	-	NC_000010.11:g.133531606C>T	gnomAD
CYP2E1	P05181	p.Thr121Ile	rs779948307	missense variant	-	NC_000010.11:g.133531609C>T	ExAC,gnomAD
CYP2E1	P05181	p.Trp122Ter	rs1371933261	stop gained	-	NC_000010.11:g.133531613G>A	gnomAD
CYP2E1	P05181	p.Lys123Glu	rs377658981	missense variant	-	NC_000010.11:g.133531614A>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg126Trp	rs60719153	missense variant	-	NC_000010.11:g.133531623C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg126Leu	rs56864127	missense variant	-	NC_000010.11:g.133531624G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg126Gln	rs56864127	missense variant	-	NC_000010.11:g.133531624G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg127Trp	rs772509721	missense variant	-	NC_000010.11:g.133531626C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg127Gln	rs773718909	missense variant	-	NC_000010.11:g.133531627G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu130Val	rs905415600	missense variant	-	NC_000010.11:g.133531635C>G	gnomAD
CYP2E1	P05181	p.Thr132Ile	rs1290001392	missense variant	-	NC_000010.11:g.133531642C>T	gnomAD
CYP2E1	P05181	p.Leu133Phe	rs148644999	missense variant	-	NC_000010.11:g.133531644C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg134Gln	rs765056111	missense variant	-	NC_000010.11:g.133531648G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg134Trp	rs1239678934	missense variant	-	NC_000010.11:g.133531647C>T	gnomAD
CYP2E1	P05181	p.Tyr136Cys	rs759059865	missense variant	-	NC_000010.11:g.133531654A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Met138Leu	rs1456859372	missense variant	-	NC_000010.11:g.133531659A>T	gnomAD
CYP2E1	P05181	p.Gly139Arg	rs764780713	missense variant	-	NC_000010.11:g.133531662G>A	ExAC,gnomAD
CYP2E1	P05181	p.Gly139Glu	rs752570058	missense variant	-	NC_000010.11:g.133531663G>A	ExAC,gnomAD
CYP2E1	P05181	p.Lys140Arg	rs1323264151	missense variant	-	NC_000010.11:g.133531666A>G	TOPMed
CYP2E1	P05181	p.Gln141His	rs777502721	missense variant	-	NC_000010.11:g.133531670G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln141Pro	rs758334170	missense variant	-	NC_000010.11:g.133531669A>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln141Ter	rs1465213740	stop gained	-	NC_000010.11:g.133531668C>T	gnomAD
CYP2E1	P05181	p.Gly142Ala	rs1311765376	missense variant	-	NC_000010.11:g.133531672G>C	gnomAD
CYP2E1	P05181	p.Gly142Ser	rs751390447	missense variant	-	NC_000010.11:g.133531671G>A	ExAC,gnomAD
CYP2E1	P05181	p.Glu144Asp	rs757050207	missense variant	-	NC_000010.11:g.133531679G>C	ExAC
CYP2E1	P05181	p.Arg146Gln	rs749539588	missense variant	-	NC_000010.11:g.133531684G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg146Trp	rs370419762	missense variant	-	NC_000010.11:g.133531683C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Glu150Ala	rs200955165	missense variant	-	NC_000010.11:g.133531696A>C	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.His152Gln	rs779148806	missense variant	-	NC_000010.11:g.133531703C>A	ExAC,gnomAD
CYP2E1	P05181	p.His152Arg	rs1033628393	missense variant	-	NC_000010.11:g.133531702A>G	TOPMed
CYP2E1	P05181	p.Phe153Val	rs1208223809	missense variant	-	NC_000010.11:g.133531704T>G	gnomAD
CYP2E1	P05181	p.Leu154Arg	rs373427672	missense variant	-	NC_000010.11:g.133531708T>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Glu156Val	rs142907528	missense variant	-	NC_000010.11:g.133531714A>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu158Ile	rs776328834	missense variant	-	NC_000010.11:g.133531719C>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg159Ser	rs991726526	missense variant	-	NC_000010.11:g.133531724G>T	TOPMed
CYP2E1	P05181	p.Arg159Gly	rs958935789	missense variant	-	NC_000010.11:g.133531722A>G	TOPMed
CYP2E1	P05181	p.Gln162Arg	rs759119506	missense variant	-	NC_000010.11:g.133531732A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln164Ter	rs1353571191	stop gained	-	NC_000010.11:g.133532126C>T	gnomAD
CYP2E1	P05181	p.Pro165Ser	rs201167793	missense variant	-	NC_000010.11:g.133532129C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro165Arg	rs1314163001	missense variant	-	NC_000010.11:g.133532130C>G	gnomAD
CYP2E1	P05181	p.Pro165Ala	rs201167793	missense variant	-	NC_000010.11:g.133532129C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Phe166Ile	rs1244383308	missense variant	-	NC_000010.11:g.133532132T>A	gnomAD
CYP2E1	P05181	p.Asp167Asn	rs1190685941	missense variant	-	NC_000010.11:g.133532135G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Asp167Glu	rs1320694495	missense variant	-	NC_000010.11:g.133532137C>A	TOPMed
CYP2E1	P05181	p.Thr169Ser	rs755208649	missense variant	-	NC_000010.11:g.133532142C>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr169Asn	rs755208649	missense variant	-	NC_000010.11:g.133532142C>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr169Ser	rs750206115	missense variant	-	NC_000010.11:g.133532141A>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu171Phe	rs758535504	missense variant	-	NC_000010.11:g.133532147C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile172Met	rs139133362	missense variant	-	NC_000010.11:g.133532152C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile172Val	rs566294180	missense variant	-	NC_000010.11:g.133532150A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly173Cys	rs60452492	missense variant	-	NC_000010.11:g.133532153G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gly173Ser	rs60452492	missense variant	-	NC_000010.11:g.133532153G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Cys174Ser	rs923179921	missense variant	-	NC_000010.11:g.133532157G>C	TOPMed
CYP2E1	P05181	p.Ala175Val	rs548262477	missense variant	-	NC_000010.11:g.133532160C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ala175Thr	rs56040284	missense variant	-	NC_000010.11:g.133532159G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro176Ser	rs557994567	missense variant	-	NC_000010.11:g.133532162C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Asn178Ser	rs1272538462	missense variant	-	NC_000010.11:g.133532169A>G	gnomAD
CYP2E1	P05181	p.Val179Ile	rs6413419	missense variant	-	NC_000010.11:g.133532171G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val179Phe	rs6413419	missense variant	-	NC_000010.11:g.133532171G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile180Met	rs201427783	missense variant	-	NC_000010.11:g.133532176A>G	ExAC,gnomAD
CYP2E1	P05181	p.Asp182Asn	rs76138620	missense variant	-	NC_000010.11:g.133532180G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile183Thr	rs1318060013	missense variant	-	NC_000010.11:g.133532184T>C	gnomAD
CYP2E1	P05181	p.Phe185Leu	rs1263786649	missense variant	-	NC_000010.11:g.133532191C>A	gnomAD
CYP2E1	P05181	p.Phe185Leu	rs1220862293	missense variant	-	NC_000010.11:g.133532189T>C	gnomAD
CYP2E1	P05181	p.Arg186His	rs200871390	missense variant	-	NC_000010.11:g.133532193G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg186Cys	rs140500826	missense variant	-	NC_000010.11:g.133532192C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp190Asn	rs752959099	missense variant	-	NC_000010.11:g.133532204G>A	ExAC
CYP2E1	P05181	p.Asn192Ser	rs763286285	missense variant	-	NC_000010.11:g.133532211A>G	ExAC,gnomAD
CYP2E1	P05181	p.Glu194Asp	rs764189163	missense variant	-	NC_000010.11:g.133532218G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys195Met	rs1296224047	missense variant	-	NC_000010.11:g.133532220A>T	TOPMed
CYP2E1	P05181	p.Arg198Lys	rs1365307411	missense variant	-	NC_000010.11:g.133532229G>A	TOPMed
CYP2E1	P05181	p.Met200Leu	rs757401077	missense variant	-	NC_000010.11:g.133532234A>T	ExAC,gnomAD
CYP2E1	P05181	p.His208Arg	rs1351088713	missense variant	-	NC_000010.11:g.133532259A>G	gnomAD
CYP2E1	P05181	p.His208Gln	rs772559232	missense variant	-	NC_000010.11:g.133532260C>G	ExAC,gnomAD
CYP2E1	P05181	p.His208Tyr	rs750987941	missense variant	-	NC_000010.11:g.133532258C>T	ExAC,gnomAD
CYP2E1	P05181	p.Leu209Gln	rs1397676621	missense variant	-	NC_000010.11:g.133532262T>A	TOPMed,gnomAD
CYP2E1	P05181	p.Ser211Gly	rs1281657912	missense variant	-	NC_000010.11:g.133532267A>G	gnomAD
CYP2E1	P05181	p.Thr212Ala	rs778445040	missense variant	-	NC_000010.11:g.133532270A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro213Arg	rs907445349	missense variant	-	NC_000010.11:g.133532274C>G	TOPMed
CYP2E1	P05181	p.Pro213Ser	rs577159401	missense variant	-	NC_000010.11:g.133532273C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Gln216Lys	rs1194608147	missense variant	-	NC_000010.11:g.133532282C>A	TOPMed
CYP2E1	P05181	p.Asn219Asp	rs41299426	missense variant	-	NC_000010.11:g.133532698A>G	UniProt,dbSNP
CYP2E1	P05181	p.Asn219Asp	VAR_055382	missense variant	-	NC_000010.11:g.133532698A>G	UniProt
CYP2E1	P05181	p.Asn219Asp	rs41299426	missense variant	-	NC_000010.11:g.133532698A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asn220Thr	rs769691101	missense variant	-	NC_000010.11:g.133532702A>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Phe224Ser	rs767527110	missense variant	-	NC_000010.11:g.133532714T>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.His226Tyr	rs773301045	missense variant	-	NC_000010.11:g.133532719C>T	ExAC,gnomAD
CYP2E1	P05181	p.Tyr227Ter	rs1433319688	stop gained	-	NC_000010.11:g.133532724C>A	TOPMed
CYP2E1	P05181	p.Leu228Trp	rs761129818	missense variant	-	NC_000010.11:g.133532726T>G	ExAC,gnomAD
CYP2E1	P05181	p.Leu228Ser	rs761129818	missense variant	-	NC_000010.11:g.133532726T>C	ExAC,gnomAD
CYP2E1	P05181	p.Gly230Arg	rs766838345	missense variant	-	NC_000010.11:g.133532731G>A	ExAC,gnomAD
CYP2E1	P05181	p.Gly230Glu	rs1193278838	missense variant	-	NC_000010.11:g.133532732G>A	gnomAD
CYP2E1	P05181	p.Ser231Asn	rs1327451829	missense variant	-	NC_000010.11:g.133532735G>A	TOPMed
CYP2E1	P05181	p.Arg233Ser	rs1476850745	missense variant	-	NC_000010.11:g.133532742A>C	gnomAD
CYP2E1	P05181	p.Arg233Thr	rs1245708136	missense variant	-	NC_000010.11:g.133532741G>C	gnomAD
CYP2E1	P05181	p.Lys234Arg	rs1172122956	missense variant	-	NC_000010.11:g.133532744A>G	gnomAD
CYP2E1	P05181	p.Val235Ile	rs754388548	missense variant	-	NC_000010.11:g.133532746G>A	ExAC,gnomAD
CYP2E1	P05181	p.Ile236Leu	rs375484572	missense variant	-	NC_000010.11:g.133532749A>T	ESP,ExAC,gnomAD
CYP2E1	P05181	p.Ile236Thr	rs569948279	missense variant	-	NC_000010.11:g.133532750T>C	1000Genomes
CYP2E1	P05181	p.Asn238Tyr	rs752221593	missense variant	-	NC_000010.11:g.133532755A>T	ExAC,gnomAD
CYP2E1	P05181	p.Val242Ile	rs758094862	missense variant	-	NC_000010.11:g.133532767G>A	ExAC,gnomAD
CYP2E1	P05181	p.Glu244Asp	rs369888957	missense variant	-	NC_000010.11:g.133532775G>C	ESP,ExAC,gnomAD
CYP2E1	P05181	p.Tyr245Ter	rs555344732	stop gained	-	NC_000010.11:g.133532778T>A	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Val246Leu	rs756879881	missense variant	-	NC_000010.11:g.133532779G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val246Met	rs756879881	missense variant	-	NC_000010.11:g.133532779G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys251Asn	rs1352765108	missense variant	-	NC_000010.11:g.133532796G>C	gnomAD
CYP2E1	P05181	p.Glu252Asp	rs978002991	missense variant	-	NC_000010.11:g.133532799G>C	TOPMed,gnomAD
CYP2E1	P05181	p.His254Tyr	rs745886844	missense variant	-	NC_000010.11:g.133532803C>T	ExAC,gnomAD
CYP2E1	P05181	p.Leu257Arg	rs769409483	missense variant	-	NC_000010.11:g.133532813T>G	ExAC,gnomAD
CYP2E1	P05181	p.Leu257Gln	rs769409483	missense variant	-	NC_000010.11:g.133532813T>A	ExAC,gnomAD
CYP2E1	P05181	p.Asn260Ser	rs748268978	missense variant	-	NC_000010.11:g.133532822A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Cys261Ter	rs772311713	stop gained	-	NC_000010.11:g.133532826T>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro262Leu	rs540609626	missense variant	-	NC_000010.11:g.133532828C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg263Trp	rs372834832	missense variant	-	NC_000010.11:g.133532830C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg263Gln	rs766501004	missense variant	-	NC_000010.11:g.133532831G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp264His	rs1390074994	missense variant	-	NC_000010.11:g.133532833G>C	gnomAD
CYP2E1	P05181	p.Leu265Phe	rs776997036	missense variant	-	NC_000010.11:g.133532836C>T	ExAC,gnomAD
CYP2E1	P05181	p.Asp267Tyr	rs201869253	missense variant	-	NC_000010.11:g.133532842G>T	ESP,ExAC,gnomAD
CYP2E1	P05181	p.Asp267Asn	rs201869253	missense variant	-	NC_000010.11:g.133532842G>A	ESP,ExAC,gnomAD
CYP2E1	P05181	p.Cys268Ser	rs1271339688	missense variant	-	NC_000010.11:g.133532845T>A	TOPMed
CYP2E1	P05181	p.Cys268Trp	rs1445693067	missense variant	-	NC_000010.11:g.133532847C>G	gnomAD
CYP2E1	P05181	p.Val271Met	rs912558367	missense variant	-	NC_000010.11:g.133532854G>A	TOPMed
CYP2E1	P05181	p.Met273Val	rs753140012	missense variant	-	NC_000010.11:g.133532860A>G	ExAC,gnomAD
CYP2E1	P05181	p.Glu274Gln	rs372404508	missense variant	-	NC_000010.11:g.133532863G>C	ESP,TOPMed
CYP2E1	P05181	p.Lys277Asn	rs1326260648	missense variant	-	NC_000010.11:g.133533761G>T	TOPMed
CYP2E1	P05181	p.Lys277Arg	rs1449208969	missense variant	-	NC_000010.11:g.133533760A>G	TOPMed
CYP2E1	P05181	p.His278Arg	rs1316414071	missense variant	-	NC_000010.11:g.133533763A>G	gnomAD
CYP2E1	P05181	p.His278Gln	rs1190104776	missense variant	-	NC_000010.11:g.133533764C>A	TOPMed,gnomAD
CYP2E1	P05181	p.Ser279Arg	rs1383519539	missense variant	-	NC_000010.11:g.133533767T>G	TOPMed
CYP2E1	P05181	p.Ala280Val	rs751192911	missense variant	-	NC_000010.11:g.133533769C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg282His	rs749979006	missense variant	-	NC_000010.11:g.133533775G>A	ExAC,gnomAD
CYP2E1	P05181	p.Arg282Ser	rs375149895	missense variant	-	NC_000010.11:g.133533774C>A	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg282Cys	rs375149895	missense variant	-	NC_000010.11:g.133533774C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr285Ile	rs1195094707	missense variant	-	NC_000010.11:g.133533784C>T	TOPMed
CYP2E1	P05181	p.Thr285Ala	rs138201091	missense variant	-	NC_000010.11:g.133533783A>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Met286Val	rs1373503578	missense variant	-	NC_000010.11:g.133533786A>G	gnomAD
CYP2E1	P05181	p.Gly288Ser	rs61710826	missense variant	-	NC_000010.11:g.133533792G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Thr290Ile	rs778681344	missense variant	-	NC_000010.11:g.133533799C>T	ExAC,gnomAD
CYP2E1	P05181	p.Val291Met	rs771160948	missense variant	-	NC_000010.11:g.133533801G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ala294Val	rs745942247	missense variant	-	NC_000010.11:g.133533811C>T	ExAC,gnomAD
CYP2E1	P05181	p.Asp295Asn	rs1007026512	missense variant	-	NC_000010.11:g.133533813G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Ala299Ser	rs1264055833	missense variant	-	NC_000010.11:g.133533825G>T	gnomAD
CYP2E1	P05181	p.Ala299Val	rs533468318	missense variant	-	NC_000010.11:g.133533826C>T	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Gly300Arg	rs761515989	missense variant	-	NC_000010.11:g.133533828G>A	ExAC,gnomAD
CYP2E1	P05181	p.Thr301Ser	rs750089893	missense variant	-	NC_000010.11:g.133533831A>T	ExAC,gnomAD
CYP2E1	P05181	p.Thr303Asn	rs201120875	missense variant	-	NC_000010.11:g.133533838C>A	1000Genomes
CYP2E1	P05181	p.Thr304Ser	rs765869376	missense variant	-	NC_000010.11:g.133533841C>G	ExAC,gnomAD
CYP2E1	P05181	p.Ser305Asn	rs753706527	missense variant	-	NC_000010.11:g.133533844G>A	ExAC,gnomAD
CYP2E1	P05181	p.Thr307Ile	rs1385845866	missense variant	-	NC_000010.11:g.133533850C>T	gnomAD
CYP2E1	P05181	p.Arg309Ile	rs764958966	missense variant	-	NC_000010.11:g.133533856G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu312Phe	rs374740281	missense variant	-	NC_000010.11:g.133533864C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu313Gln	rs973002990	missense variant	-	NC_000010.11:g.133533868T>A	gnomAD
CYP2E1	P05181	p.Ile314Ser	rs142845267	missense variant	-	NC_000010.11:g.133533871T>G	ESP
CYP2E1	P05181	p.Met316Leu	rs746145983	missense variant	-	NC_000010.11:g.133533876A>C	ExAC,gnomAD
CYP2E1	P05181	p.Tyr318His	rs756153015	missense variant	-	NC_000010.11:g.133533882T>C	ExAC,gnomAD
CYP2E1	P05181	p.Pro319His	rs984244601	missense variant	-	NC_000010.11:g.133533886C>A	TOPMed,gnomAD
CYP2E1	P05181	p.Ile321Val	rs1251438410	missense variant	-	NC_000010.11:g.133533891A>G	gnomAD
CYP2E1	P05181	p.Ile321Met	rs915909	missense variant	-	NC_000010.11:g.133533893C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Glu322Lys	rs138223492	missense variant	-	NC_000010.11:g.133533894G>A	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys324Glu	rs773459833	missense variant	-	NC_000010.11:g.133537065A>G	ExAC,gnomAD
CYP2E1	P05181	p.Leu325Val	rs746620834	missense variant	-	NC_000010.11:g.133537068C>G	ExAC,gnomAD
CYP2E1	P05181	p.Glu328Asp	rs980349044	missense variant	-	NC_000010.11:g.133537079A>T	TOPMed
CYP2E1	P05181	p.Glu328Ter	rs969893824	stop gained	-	NC_000010.11:g.133537077G>T	TOPMed,gnomAD
CYP2E1	P05181	p.Glu328Asp	rs980349044	missense variant	-	NC_000010.11:g.133537079A>C	TOPMed
CYP2E1	P05181	p.Ile329Thr	rs770517759	missense variant	-	NC_000010.11:g.133537081T>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp330Tyr	rs1337093867	missense variant	-	NC_000010.11:g.133537083G>T	gnomAD
CYP2E1	P05181	p.Val332Leu	rs1212628802	missense variant	-	NC_000010.11:g.133537089G>T	TOPMed
CYP2E1	P05181	p.Ile333Thr	rs764799317	missense variant	-	NC_000010.11:g.133537093T>C	ExAC,gnomAD
CYP2E1	P05181	p.Ile333Met	rs775343042	missense variant	-	NC_000010.11:g.133537094T>G	ExAC,gnomAD
CYP2E1	P05181	p.Ile333Val	rs1466872326	missense variant	-	NC_000010.11:g.133537092A>G	TOPMed
CYP2E1	P05181	p.Gly334Arg	rs1233332302	missense variant	-	NC_000010.11:g.133537095G>A	gnomAD
CYP2E1	P05181	p.Pro335Ala	rs762813109	missense variant	-	NC_000010.11:g.133537098C>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro335Thr	rs762813109	missense variant	-	NC_000010.11:g.133537098C>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg337Leu	rs759707874	missense variant	-	NC_000010.11:g.133537105G>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg337Ter	rs200228968	stop gained	-	NC_000010.11:g.133537104C>T	1000Genomes,TOPMed,gnomAD
CYP2E1	P05181	p.Arg337Gln	rs759707874	missense variant	-	NC_000010.11:g.133537105G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile341Met	rs61644766	missense variant	-	NC_000010.11:g.133537118C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys342Glu	rs754169072	missense variant	-	NC_000010.11:g.133537119A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp343Asn	rs1408513149	missense variant	-	NC_000010.11:g.133537122G>A	gnomAD
CYP2E1	P05181	p.Arg344Lys	rs1173015245	missense variant	-	NC_000010.11:g.133537126G>A	gnomAD
CYP2E1	P05181	p.Gln345Arg	rs912887278	missense variant	-	NC_000010.11:g.133537129A>G	TOPMed
CYP2E1	P05181	p.Met347Leu	rs1355581068	missense variant	-	NC_000010.11:g.133537134A>T	gnomAD
CYP2E1	P05181	p.Met347Thr	rs1042802318	missense variant	-	NC_000010.11:g.133537135T>C	TOPMed
CYP2E1	P05181	p.Tyr349Cys	rs753186824	missense variant	-	NC_000010.11:g.133537141A>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Met350Val	rs1396367463	missense variant	-	NC_000010.11:g.133537143A>G	TOPMed
CYP2E1	P05181	p.Met350Arg	rs150514905	missense variant	-	NC_000010.11:g.133537144T>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val354Leu	rs747302212	missense variant	-	NC_000010.11:g.133537155G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val354Met	rs747302212	missense variant	-	NC_000010.11:g.133537155G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg359Pro	rs745528149	missense variant	-	NC_000010.11:g.133537171G>C	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg359Trp	rs780820318	missense variant	-	NC_000010.11:g.133537170C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg359Gln	rs745528149	missense variant	-	NC_000010.11:g.133537171G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile361Phe	rs769239142	missense variant	-	NC_000010.11:g.133537176A>T	ExAC,gnomAD
CYP2E1	P05181	p.Thr362Ile	rs372279263	missense variant	-	NC_000010.11:g.133537180C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val364Met	rs762908601	missense variant	-	NC_000010.11:g.133537185G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val364Ala	rs1436679183	missense variant	-	NC_000010.11:g.133537186T>C	TOPMed
CYP2E1	P05181	p.Ser366Cys	rs41299434	missense variant	-	NC_000010.11:g.133537192C>G	UniProt,dbSNP
CYP2E1	P05181	p.Ser366Cys	VAR_055383	missense variant	-	NC_000010.11:g.133537192C>G	UniProt
CYP2E1	P05181	p.Ser366Cys	rs41299434	missense variant	-	NC_000010.11:g.133537192C>G	1000Genomes
CYP2E1	P05181	p.Asn367Asp	rs1239952047	missense variant	-	NC_000010.11:g.133537194A>G	gnomAD
CYP2E1	P05181	p.Pro369Leu	rs768448978	missense variant	-	NC_000010.11:g.133537201C>T	ExAC,gnomAD
CYP2E1	P05181	p.Glu371Gly	rs1005539701	missense variant	-	NC_000010.11:g.133537207A>G	TOPMed,gnomAD
CYP2E1	P05181	p.Thr373Ala	rs59981143	missense variant	-	NC_000010.11:g.133537212A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg374Gly	rs370530375	missense variant	-	NC_000010.11:g.133537215C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg374Ter	rs370530375	stop gained	-	NC_000010.11:g.133537215C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg374Gln	rs767486762	missense variant	-	NC_000010.11:g.133537216G>A	ExAC,gnomAD
CYP2E1	P05181	p.Asp375Glu	rs759847516	missense variant	-	NC_000010.11:g.133537220C>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp375Gly	rs754046416	missense variant	-	NC_000010.11:g.133537219A>G	ExAC,gnomAD
CYP2E1	P05181	p.Phe378Leu	rs765355752	missense variant	-	NC_000010.11:g.133537229C>A	ExAC,gnomAD
CYP2E1	P05181	p.Gly380Val	rs752748963	missense variant	-	NC_000010.11:g.133537234G>T	ExAC,gnomAD
CYP2E1	P05181	p.Gly380Glu	rs752748963	missense variant	-	NC_000010.11:g.133537234G>A	ExAC,gnomAD
CYP2E1	P05181	p.Tyr381His	rs1433121603	missense variant	-	NC_000010.11:g.133537236T>C	gnomAD
CYP2E1	P05181	p.Leu382Phe	rs1437497706	missense variant	-	NC_000010.11:g.133537239C>T	TOPMed
CYP2E1	P05181	p.Ile383Met	rs752179109	missense variant	-	NC_000010.11:g.133537244C>G	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys385Arg	rs199856651	missense variant	-	NC_000010.11:g.133537249A>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val388Ala	rs1327701553	missense variant	-	NC_000010.11:g.133537758T>C	gnomAD
CYP2E1	P05181	p.Val388Ile	rs1425889399	missense variant	-	NC_000010.11:g.133537757G>A	TOPMed
CYP2E1	P05181	p.Val389Ile	rs55897648	missense variant	-	NC_000010.11:g.133537760G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Val389Leu	rs55897648	missense variant	-	NC_000010.11:g.133537760G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu393Val	rs757788272	missense variant	-	NC_000010.11:g.133537772C>G	ExAC,gnomAD
CYP2E1	P05181	p.Asp394Gly	rs60207639	missense variant	-	NC_000010.11:g.133537776A>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp394Glu	rs1223857405	missense variant	-	NC_000010.11:g.133537777C>A	gnomAD
CYP2E1	P05181	p.Val396Leu	rs59656378	missense variant	-	NC_000010.11:g.133537781G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Tyr398Phe	rs1027409770	missense variant	-	NC_000010.11:g.133537788A>T	TOPMed
CYP2E1	P05181	p.Asn400Ser	rs756521777	missense variant	-	NC_000010.11:g.133537794A>G	ExAC,gnomAD
CYP2E1	P05181	p.Gln401Pro	rs779561569	missense variant	-	NC_000010.11:g.133537797A>C	ExAC,gnomAD
CYP2E1	P05181	p.Asp405Glu	rs749034745	missense variant	-	NC_000010.11:g.133537810T>A	ExAC,gnomAD
CYP2E1	P05181	p.Pro406Ala	rs200177135	missense variant	-	NC_000010.11:g.133537811C>G	TOPMed,gnomAD
CYP2E1	P05181	p.Glu407Gly	rs1352233539	missense variant	-	NC_000010.11:g.133537815A>G	TOPMed
CYP2E1	P05181	p.Lys408Glu	rs1304810209	missense variant	-	NC_000010.11:g.133537817A>G	gnomAD
CYP2E1	P05181	p.Phe409Leu	rs1414127010	missense variant	-	NC_000010.11:g.133537820T>C	TOPMed
CYP2E1	P05181	p.Glu412Ter	rs1362640892	stop gained	-	NC_000010.11:g.133537829G>T	gnomAD
CYP2E1	P05181	p.Asn416Ser	rs1304386663	missense variant	-	NC_000010.11:g.133537842A>G	TOPMed
CYP2E1	P05181	p.Asn418Ser	rs57702102	missense variant	-	NC_000010.11:g.133537848A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Lys420Glu	rs1328203136	missense variant	-	NC_000010.11:g.133537853A>G	gnomAD
CYP2E1	P05181	p.Lys420Met	rs748046628	missense variant	-	NC_000010.11:g.133537854A>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Phe421Leu	rs2515641	missense variant	-	NC_000010.11:g.133537858C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ser424Gly	rs142767992	missense variant	-	NC_000010.11:g.133537865A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Pro429Ala	rs151041343	missense variant	-	NC_000010.11:g.133537880C>G	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg435Ter	rs1182003917	stop gained	-	NC_000010.11:g.133538785C>T	TOPMed
CYP2E1	P05181	p.Val436Ala	rs761257042	missense variant	-	NC_000010.11:g.133538789T>C	ExAC,gnomAD
CYP2E1	P05181	p.Cys437Phe	rs1471904078	missense variant	-	NC_000010.11:g.133538792G>T	TOPMed
CYP2E1	P05181	p.Gly439Arg	rs1254397224	missense variant	-	NC_000010.11:g.133538797G>A	TOPMed
CYP2E1	P05181	p.Glu440Gly	rs1196807939	missense variant	-	NC_000010.11:g.133538801A>G	TOPMed
CYP2E1	P05181	p.Ala443Asp	rs754256199	missense variant	-	NC_000010.11:g.133538810C>A	ExAC,gnomAD
CYP2E1	P05181	p.Arg444His	rs764917641	missense variant	-	NC_000010.11:g.133538813G>A	ExAC,gnomAD
CYP2E1	P05181	p.Arg444Cys	rs140969399	missense variant	-	NC_000010.11:g.133538812C>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg444Leu	rs764917641	missense variant	-	NC_000010.11:g.133538813G>T	ExAC,gnomAD
CYP2E1	P05181	p.Arg444Pro	rs764917641	missense variant	-	NC_000010.11:g.133538813G>C	ExAC,gnomAD
CYP2E1	P05181	p.Met445Ile	rs199855848	missense variant	-	NC_000010.11:g.133538817G>C	1000Genomes,ExAC,gnomAD
CYP2E1	P05181	p.Leu450Ser	rs1383662089	missense variant	-	NC_000010.11:g.133538831T>C	gnomAD
CYP2E1	P05181	p.Ala453Thr	rs1297297780	missense variant	-	NC_000010.11:g.133538839G>A	TOPMed,gnomAD
CYP2E1	P05181	p.Ala453Val	rs369066427	missense variant	-	NC_000010.11:g.133538840C>T	ESP,TOPMed
CYP2E1	P05181	p.His457Leu	rs28969387	missense variant	-	NC_000010.11:g.133538852A>T	UniProt,dbSNP
CYP2E1	P05181	p.His457Leu	VAR_024727	missense variant	-	NC_000010.11:g.133538852A>T	UniProt
CYP2E1	P05181	p.His457Leu	rs28969387	missense variant	-	NC_000010.11:g.133538852A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.His457Tyr	rs1266958540	missense variant	-	NC_000010.11:g.133538851C>T	TOPMed
CYP2E1	P05181	p.Val464Ala	rs1395292003	missense variant	-	NC_000010.11:g.133538873T>C	TOPMed
CYP2E1	P05181	p.Val464Ile	rs187941410	missense variant	-	NC_000010.11:g.133538872G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp465Val	rs769536455	missense variant	-	NC_000010.11:g.133538876A>T	ExAC,TOPMed
CYP2E1	P05181	p.Pro466Leu	rs748372752	missense variant	-	NC_000010.11:g.133538879C>T	ExAC,gnomAD
CYP2E1	P05181	p.Pro466Ser	rs779104532	missense variant	-	NC_000010.11:g.133538878C>T	ExAC,gnomAD
CYP2E1	P05181	p.Lys467Asn	rs1256621896	missense variant	-	NC_000010.11:g.133538883G>T	gnomAD
CYP2E1	P05181	p.Asp468Asn	rs1485596221	missense variant	-	NC_000010.11:g.133538884G>A	gnomAD
CYP2E1	P05181	p.Asp468Gly	rs1203554290	missense variant	-	NC_000010.11:g.133538885A>G	gnomAD
CYP2E1	P05181	p.Asp470Tyr	rs199954662	missense variant	-	NC_000010.11:g.133538890G>T	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Asp470Asn	rs199954662	missense variant	-	NC_000010.11:g.133538890G>A	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Leu471Phe	rs771433748	missense variant	-	NC_000010.11:g.133538893C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ile474Leu	rs1393164404	missense variant	-	NC_000010.11:g.133538902A>C	gnomAD
CYP2E1	P05181	p.His475Pro	rs945150523	missense variant	-	NC_000010.11:g.133538906A>C	TOPMed,gnomAD
CYP2E1	P05181	p.Ile476Val	rs1176734765	missense variant	-	NC_000010.11:g.133538908A>G	gnomAD
CYP2E1	P05181	p.Gly477Arg	rs1453966988	missense variant	-	NC_000010.11:g.133538911G>A	gnomAD
CYP2E1	P05181	p.Gly477Val	rs1041844199	missense variant	-	NC_000010.11:g.133538912G>T	TOPMed
CYP2E1	P05181	p.Pro483Ser	rs1182952256	missense variant	-	NC_000010.11:g.133538929C>T	TOPMed
CYP2E1	P05181	p.Arg484His	rs55982231	missense variant	-	NC_000010.11:g.133538933G>A	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg484Cys	rs1451003704	missense variant	-	NC_000010.11:g.133538932C>T	TOPMed,gnomAD
CYP2E1	P05181	p.Arg484Ser	rs1451003704	missense variant	-	NC_000010.11:g.133538932C>A	TOPMed,gnomAD
CYP2E1	P05181	p.Cys488Trp	rs1436249380	missense variant	-	NC_000010.11:g.133538946T>G	gnomAD
CYP2E1	P05181	p.Cys488Tyr	rs1184993512	missense variant	-	NC_000010.11:g.133538945G>A	TOPMed
CYP2E1	P05181	p.Pro491Leu	rs1325698643	missense variant	-	NC_000010.11:g.133538954C>T	gnomAD
CYP2E1	P05181	p.Arg492Cys	rs759928543	missense variant	-	NC_000010.11:g.133538956C>T	ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Arg492His	rs147916524	missense variant	-	NC_000010.11:g.133538957G>A	ESP,ExAC,TOPMed,gnomAD
CYP2E1	P05181	p.Ser493Leu	rs752341899	missense variant	-	NC_000010.11:g.133538960C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala2Gly	rs552755699	missense variant	-	NC_000005.10:g.142614123G>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ala2Thr	rs758882195	missense variant	-	NC_000005.10:g.142614124C>T	ExAC,gnomAD
FGF1	P05230	p.Glu3Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142614121C>T	NCI-TCGA
FGF1	P05230	p.Thr7Ile	rs138110926	missense variant	-	NC_000005.10:g.142614108G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr8Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142614105G>A	NCI-TCGA
FGF1	P05230	p.Ala11Val	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>A	gnomAD
FGF1	P05230	p.Ala11Asp	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>T	gnomAD
FGF1	P05230	p.Leu12Pro	rs1403446036	missense variant	-	NC_000005.10:g.142614093A>G	gnomAD
FGF1	P05230	p.Thr13Ile	rs375379946	missense variant	-	NC_000005.10:g.142614090G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr13Asn	rs375379946	missense variant	-	NC_000005.10:g.142614090G>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Gln	rs529994538	missense variant	-	NC_000005.10:g.142614088C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Lys	rs529994538	missense variant	-	NC_000005.10:g.142614088C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys15Thr	rs997547008	missense variant	-	NC_000005.10:g.142614084T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys15Glu	rs1425477789	missense variant	-	NC_000005.10:g.142614085T>C	TOPMed
FGF1	P05230	p.Pro19Leu	rs1174067481	missense variant	-	NC_000005.10:g.142614072G>A	TOPMed
FGF1	P05230	p.Pro19Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142614073G>A	NCI-TCGA
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	UniProt,dbSNP
FGF1	P05230	p.Gly21Glu	VAR_021357	missense variant	-	NC_000005.10:g.142614066C>T	UniProt
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Trp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142614067C>A	NCI-TCGA
FGF1	P05230	p.Lys25Asn	rs770703997	missense variant	-	NC_000005.10:g.142614053C>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu28His	rs1368636111	missense variant	-	NC_000005.10:g.142614045A>T	TOPMed
FGF1	P05230	p.Leu29Ile	rs1004435823	missense variant	-	NC_000005.10:g.142614043G>T	TOPMed
FGF1	P05230	p.Cys31Trp	rs781436637	missense variant	-	NC_000005.10:g.142614035A>C	ExAC,gnomAD
FGF1	P05230	p.Cys31Arg	rs748324402	missense variant	-	NC_000005.10:g.142614037A>G	ExAC,gnomAD
FGF1	P05230	p.Cys31Tyr	rs1281851920	missense variant	-	NC_000005.10:g.142614036C>T	TOPMed
FGF1	P05230	p.Ser32Ile	rs1323281277	missense variant	-	NC_000005.10:g.142614033C>A	TOPMed
FGF1	P05230	p.Ser32Gly	rs557322408	missense variant	-	NC_000005.10:g.142614034T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Gly34Arg	rs780745181	missense variant	-	NC_000005.10:g.142614028C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly35Val	rs1434024570	missense variant	-	NC_000005.10:g.142614024C>A	gnomAD
FGF1	P05230	p.Gly35Asp	COSM281150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.142614024C>T	NCI-TCGA Cosmic
FGF1	P05230	p.Gly35AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.142614024C>-	NCI-TCGA
FGF1	P05230	p.His36Tyr	rs758967005	missense variant	-	NC_000005.10:g.142614022G>A	ExAC,gnomAD
FGF1	P05230	p.Phe37Leu	rs1323743663	missense variant	-	NC_000005.10:g.142614019A>G	gnomAD
FGF1	P05230	p.Leu41Arg	rs779156328	missense variant	-	NC_000005.10:g.142614006A>C	ExAC,gnomAD
FGF1	P05230	p.Pro42Leu	rs770103681	missense variant	-	NC_000005.10:g.142614003G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp43Gly	rs763784465	missense variant	-	NC_000005.10:g.142614000T>C	ExAC,gnomAD
FGF1	P05230	p.Gly44Asp	rs760222333	missense variant	-	NC_000005.10:g.142613997C>T	ExAC,gnomAD
FGF1	P05230	p.Gly44Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142613998C>A	NCI-TCGA
FGF1	P05230	p.Asp47Gly	rs1490756504	missense variant	-	NC_000005.10:g.142613988T>C	TOPMed
FGF1	P05230	p.Asp47His	rs752202262	missense variant	-	NC_000005.10:g.142613989C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly48Ala	rs767502862	missense variant	-	NC_000005.10:g.142613985C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg52Lys	rs1222529936	missense variant	-	NC_000005.10:g.142613973C>T	gnomAD
FGF1	P05230	p.Asp54Glu	rs770662903	missense variant	-	NC_000005.10:g.142613966G>T	ExAC,gnomAD
FGF1	P05230	p.Asp54Asn	rs200931712	missense variant	-	NC_000005.10:g.142613968C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu59Pro	rs1397972024	missense variant	-	NC_000005.10:g.142600799A>G	gnomAD
FGF1	P05230	p.Gln60Ter	rs968262011	stop gained	-	NC_000005.10:g.142600797G>A	TOPMed
FGF1	P05230	p.Leu61Phe	rs1218989496	missense variant	-	NC_000005.10:g.142600794G>A	TOPMed
FGF1	P05230	p.Ala63Val	rs775873647	missense variant	-	NC_000005.10:g.142600787G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Val66Met	rs774480739	missense variant	-	NC_000005.10:g.142600779C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>G	ExAC,gnomAD
FGF1	P05230	p.Glu68Lys	rs749809722	missense variant	-	NC_000005.10:g.142600773C>T	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>A	ExAC,gnomAD
FGF1	P05230	p.Val69Leu	rs1415742259	missense variant	-	NC_000005.10:g.142600770C>A	TOPMed
FGF1	P05230	p.Ile71Arg	rs1318889609	missense variant	-	NC_000005.10:g.142600763A>C	TOPMed,gnomAD
FGF1	P05230	p.Lys72Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142600761T>C	NCI-TCGA
FGF1	P05230	p.Ser73Asn	rs141211666	missense variant	-	NC_000005.10:g.142600757C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr74Ile	rs768468212	missense variant	-	NC_000005.10:g.142600754G>A	ExAC,gnomAD
FGF1	P05230	p.Glu75Gln	rs148224095	missense variant	-	NC_000005.10:g.142600752C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu75Lys	rs148224095	missense variant	-	NC_000005.10:g.142600752C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr76Pro	rs565742349	missense variant	-	NC_000005.10:g.142600749T>G	1000Genomes,ExAC
FGF1	P05230	p.Gly77Ser	rs375407078	missense variant	-	NC_000005.10:g.142600746C>T	ESP,TOPMed,gnomAD
FGF1	P05230	p.Gln78His	rs886552961	missense variant	-	NC_000005.10:g.142600741C>A	TOPMed
FGF1	P05230	p.Gln78Arg	rs200708364	missense variant	-	NC_000005.10:g.142600742T>C	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78Leu	rs200708364	missense variant	-	NC_000005.10:g.142600742T>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu80Ser	rs757163595	missense variant	-	NC_000005.10:g.142600736A>G	ExAC,gnomAD
FGF1	P05230	p.Thr84Ser	rs1192531296	missense variant	-	NC_000005.10:g.142600724G>C	gnomAD
FGF1	P05230	p.Asp85Asn	rs1488617074	missense variant	-	NC_000005.10:g.142600722C>T	TOPMed,gnomAD
FGF1	P05230	p.Gly86Arg	rs767694313	missense variant	-	NC_000005.10:g.142600719C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu88Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142600712A>G	NCI-TCGA
FGF1	P05230	p.Tyr89Phe	rs774373472	missense variant	-	NC_000005.10:g.142600709T>A	ExAC,gnomAD
FGF1	P05230	p.Tyr89Cys	rs774373472	missense variant	-	NC_000005.10:g.142600709T>C	ExAC,gnomAD
FGF1	P05230	p.Gly90Ser	rs762894941	missense variant	-	NC_000005.10:g.142600707C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly90Asp	rs773757340	missense variant	-	NC_000005.10:g.142600706C>T	ExAC,gnomAD
FGF1	P05230	p.Gln92Arg	rs1174301824	missense variant	-	NC_000005.10:g.142595483T>C	gnomAD
FGF1	P05230	p.Glu96Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142595470C>A	NCI-TCGA
FGF1	P05230	p.Phe100Leu	COSM275164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.142595460A>G	NCI-TCGA Cosmic
FGF1	P05230	p.Arg103Ser	rs778584449	missense variant	-	NC_000005.10:g.142595449C>G	ExAC,gnomAD
FGF1	P05230	p.Glu105Lys	rs1254681607	missense variant	-	NC_000005.10:g.142595445C>T	gnomAD
FGF1	P05230	p.Glu106Lys	rs1202711739	missense variant	-	NC_000005.10:g.142595442C>T	TOPMed,gnomAD
FGF1	P05230	p.Glu106Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142595440C>A	NCI-TCGA
FGF1	P05230	p.His108Asp	rs770501980	missense variant	-	NC_000005.10:g.142595436G>C	ExAC,gnomAD
FGF1	P05230	p.Tyr109Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142595433A>C	NCI-TCGA
FGF1	P05230	p.Asn110Thr	COSM1434817	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.142595429T>G	NCI-TCGA Cosmic
FGF1	P05230	p.Thr111Pro	COSM3852317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.142595427T>G	NCI-TCGA Cosmic
FGF1	P05230	p.Thr111Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142595426G>A	NCI-TCGA
FGF1	P05230	p.Tyr112His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142595424A>G	NCI-TCGA
FGF1	P05230	p.Ile113Val	rs561960626	missense variant	-	NC_000005.10:g.142595421T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ile113Thr	rs1271039014	missense variant	-	NC_000005.10:g.142595420A>G	gnomAD
FGF1	P05230	p.Lys115Thr	rs1244139413	missense variant	-	NC_000005.10:g.142595414T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys115Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142595413C>A	NCI-TCGA
FGF1	P05230	p.Lys116Asn	rs1338842264	missense variant	-	NC_000005.10:g.142595410C>G	gnomAD
FGF1	P05230	p.His117Gln	rs1357397469	missense variant	-	NC_000005.10:g.142595407A>T	gnomAD
FGF1	P05230	p.Ala118Pro	rs369740938	missense variant	-	NC_000005.10:g.142595406C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala118Val	rs1415333814	missense variant	-	NC_000005.10:g.142595405G>A	gnomAD
FGF1	P05230	p.Glu119Lys	rs1305923663	missense variant	-	NC_000005.10:g.142595403C>T	gnomAD
FGF1	P05230	p.Lys120Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.142595398C>A	NCI-TCGA
FGF1	P05230	p.Trp122Cys	rs780390744	missense variant	-	NC_000005.10:g.142595392C>A	ExAC,gnomAD
FGF1	P05230	p.Gly125Asp	rs902995255	missense variant	-	NC_000005.10:g.142595384C>T	TOPMed
FGF1	P05230	p.Lys127Arg	rs1190163641	missense variant	-	NC_000005.10:g.142595378T>C	gnomAD
FGF1	P05230	p.Ser131Asn	rs765303323	missense variant	-	NC_000005.10:g.142595366C>T	ExAC,gnomAD
FGF1	P05230	p.Cys132Gly	rs761839384	missense variant	-	NC_000005.10:g.142595364A>C	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Cys132Phe	rs1222942974	missense variant	-	NC_000005.10:g.142595363C>A	TOPMed
FGF1	P05230	p.Lys133Glu	rs754388820	missense variant	-	NC_000005.10:g.142595361T>C	ExAC,gnomAD
FGF1	P05230	p.Arg134Cys	rs764484123	missense variant	-	NC_000005.10:g.142595358G>A	ExAC,gnomAD
FGF1	P05230	p.Arg134His	rs145843967	missense variant	-	NC_000005.10:g.142595357C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134Pro	rs145843967	missense variant	-	NC_000005.10:g.142595357C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly135Ser	rs759270544	missense variant	-	NC_000005.10:g.142595355C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Pro136Ser	rs774109079	missense variant	-	NC_000005.10:g.142595352G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Trp	rs770590235	missense variant	-	NC_000005.10:g.142595349G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Gln	rs146745580	missense variant	-	NC_000005.10:g.142595348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln142Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.142595334G>A	NCI-TCGA
FGF1	P05230	p.Ile145Val	rs769616526	missense variant	-	NC_000005.10:g.142595325T>C	ExAC,gnomAD
FGF1	P05230	p.Ile145Thr	rs748034939	missense variant	-	NC_000005.10:g.142595324A>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Asn	rs748034939	missense variant	-	NC_000005.10:g.142595324A>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu146Phe	rs780860378	missense variant	-	NC_000005.10:g.142595320C>A	ExAC
FGF1	P05230	p.Phe147Leu	rs754699487	missense variant	-	NC_000005.10:g.142595319A>G	ExAC,gnomAD
FGF1	P05230	p.Leu148Phe	COSM3776388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.142595316G>A	NCI-TCGA Cosmic
FGF1	P05230	p.Leu148Pro	rs201277854	missense variant	-	NC_000005.10:g.142595315A>G	ExAC,gnomAD
FGF1	P05230	p.Pro149Leu	rs757372975	missense variant	-	NC_000005.10:g.142595312G>A	ExAC,gnomAD
FGF1	P05230	p.Leu150Met	rs764725960	missense variant	-	NC_000005.10:g.142595310G>T	ExAC,gnomAD
FGF1	P05230	p.Leu150HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.142595309_142595310insT	NCI-TCGA
FGF1	P05230	p.Val152Ile	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>T	TOPMed,gnomAD
FGF1	P05230	p.Val152Leu	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>G	TOPMed,gnomAD
FGF1	P05230	p.Val152Phe	COSM3994079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.142595304C>A	NCI-TCGA Cosmic
FGF1	P05230	p.Asp155Glu	rs1450056118	missense variant	-	NC_000005.10:g.142595293A>T	gnomAD
FGF1	P05230	p.Ala2Gly	rs552755699	missense variant	-	NC_000005.10:g.142614123G>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ala2Thr	rs758882195	missense variant	-	NC_000005.10:g.142614124C>T	ExAC,gnomAD
FGF1	P05230	p.Thr7Ile	rs138110926	missense variant	-	NC_000005.10:g.142614108G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala11Val	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>A	gnomAD
FGF1	P05230	p.Ala11Asp	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>T	gnomAD
FGF1	P05230	p.Leu12Pro	rs1403446036	missense variant	-	NC_000005.10:g.142614093A>G	gnomAD
FGF1	P05230	p.Thr13Ile	rs375379946	missense variant	-	NC_000005.10:g.142614090G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr13Asn	rs375379946	missense variant	-	NC_000005.10:g.142614090G>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Gln	rs529994538	missense variant	-	NC_000005.10:g.142614088C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Lys	rs529994538	missense variant	-	NC_000005.10:g.142614088C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys15Thr	rs997547008	missense variant	-	NC_000005.10:g.142614084T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys15Glu	rs1425477789	missense variant	-	NC_000005.10:g.142614085T>C	TOPMed
FGF1	P05230	p.Pro19Leu	rs1174067481	missense variant	-	NC_000005.10:g.142614072G>A	TOPMed
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	UniProt,dbSNP
FGF1	P05230	p.Gly21Glu	VAR_021357	missense variant	-	NC_000005.10:g.142614066C>T	UniProt
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys25Asn	rs770703997	missense variant	-	NC_000005.10:g.142614053C>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu28His	rs1368636111	missense variant	-	NC_000005.10:g.142614045A>T	TOPMed
FGF1	P05230	p.Leu29Ile	rs1004435823	missense variant	-	NC_000005.10:g.142614043G>T	TOPMed
FGF1	P05230	p.Cys31Trp	rs781436637	missense variant	-	NC_000005.10:g.142614035A>C	ExAC,gnomAD
FGF1	P05230	p.Cys31Tyr	rs1281851920	missense variant	-	NC_000005.10:g.142614036C>T	TOPMed
FGF1	P05230	p.Cys31Arg	rs748324402	missense variant	-	NC_000005.10:g.142614037A>G	ExAC,gnomAD
FGF1	P05230	p.Ser32Ile	rs1323281277	missense variant	-	NC_000005.10:g.142614033C>A	TOPMed
FGF1	P05230	p.Ser32Gly	rs557322408	missense variant	-	NC_000005.10:g.142614034T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Gly34Arg	rs780745181	missense variant	-	NC_000005.10:g.142614028C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly35Val	rs1434024570	missense variant	-	NC_000005.10:g.142614024C>A	gnomAD
FGF1	P05230	p.His36Tyr	rs758967005	missense variant	-	NC_000005.10:g.142614022G>A	ExAC,gnomAD
FGF1	P05230	p.Phe37Leu	rs1323743663	missense variant	-	NC_000005.10:g.142614019A>G	gnomAD
FGF1	P05230	p.Leu41Arg	rs779156328	missense variant	-	NC_000005.10:g.142614006A>C	ExAC,gnomAD
FGF1	P05230	p.Pro42Leu	rs770103681	missense variant	-	NC_000005.10:g.142614003G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp43Gly	rs763784465	missense variant	-	NC_000005.10:g.142614000T>C	ExAC,gnomAD
FGF1	P05230	p.Gly44Asp	rs760222333	missense variant	-	NC_000005.10:g.142613997C>T	ExAC,gnomAD
FGF1	P05230	p.Asp47Gly	rs1490756504	missense variant	-	NC_000005.10:g.142613988T>C	TOPMed
FGF1	P05230	p.Asp47His	rs752202262	missense variant	-	NC_000005.10:g.142613989C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly48Ala	rs767502862	missense variant	-	NC_000005.10:g.142613985C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg52Lys	rs1222529936	missense variant	-	NC_000005.10:g.142613973C>T	gnomAD
FGF1	P05230	p.Asp54Glu	rs770662903	missense variant	-	NC_000005.10:g.142613966G>T	ExAC,gnomAD
FGF1	P05230	p.Asp54Asn	rs200931712	missense variant	-	NC_000005.10:g.142613968C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu59Pro	rs1397972024	missense variant	-	NC_000005.10:g.142600799A>G	gnomAD
FGF1	P05230	p.Gln60Ter	rs968262011	stop gained	-	NC_000005.10:g.142600797G>A	TOPMed
FGF1	P05230	p.Leu61Phe	rs1218989496	missense variant	-	NC_000005.10:g.142600794G>A	TOPMed
FGF1	P05230	p.Ala63Val	rs775873647	missense variant	-	NC_000005.10:g.142600787G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Val66Met	rs774480739	missense variant	-	NC_000005.10:g.142600779C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>A	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>G	ExAC,gnomAD
FGF1	P05230	p.Glu68Lys	rs749809722	missense variant	-	NC_000005.10:g.142600773C>T	ExAC,gnomAD
FGF1	P05230	p.Val69Leu	rs1415742259	missense variant	-	NC_000005.10:g.142600770C>A	TOPMed
FGF1	P05230	p.Ile71Arg	rs1318889609	missense variant	-	NC_000005.10:g.142600763A>C	TOPMed,gnomAD
FGF1	P05230	p.Ser73Asn	rs141211666	missense variant	-	NC_000005.10:g.142600757C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr74Ile	rs768468212	missense variant	-	NC_000005.10:g.142600754G>A	ExAC,gnomAD
FGF1	P05230	p.Glu75Lys	rs148224095	missense variant	-	NC_000005.10:g.142600752C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu75Gln	rs148224095	missense variant	-	NC_000005.10:g.142600752C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr76Pro	rs565742349	missense variant	-	NC_000005.10:g.142600749T>G	1000Genomes,ExAC
FGF1	P05230	p.Gly77Ser	rs375407078	missense variant	-	NC_000005.10:g.142600746C>T	ESP,TOPMed,gnomAD
FGF1	P05230	p.Gln78Leu	rs200708364	missense variant	-	NC_000005.10:g.142600742T>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78Arg	rs200708364	missense variant	-	NC_000005.10:g.142600742T>C	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78His	rs886552961	missense variant	-	NC_000005.10:g.142600741C>A	TOPMed
FGF1	P05230	p.Leu80Ser	rs757163595	missense variant	-	NC_000005.10:g.142600736A>G	ExAC,gnomAD
FGF1	P05230	p.Thr84Ser	rs1192531296	missense variant	-	NC_000005.10:g.142600724G>C	gnomAD
FGF1	P05230	p.Asp85Asn	rs1488617074	missense variant	-	NC_000005.10:g.142600722C>T	TOPMed,gnomAD
FGF1	P05230	p.Gly86Arg	rs767694313	missense variant	-	NC_000005.10:g.142600719C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Tyr89Cys	rs774373472	missense variant	-	NC_000005.10:g.142600709T>C	ExAC,gnomAD
FGF1	P05230	p.Tyr89Phe	rs774373472	missense variant	-	NC_000005.10:g.142600709T>A	ExAC,gnomAD
FGF1	P05230	p.Gly90Ser	rs762894941	missense variant	-	NC_000005.10:g.142600707C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly90Asp	rs773757340	missense variant	-	NC_000005.10:g.142600706C>T	ExAC,gnomAD
FGF1	P05230	p.Gln92Arg	rs1174301824	missense variant	-	NC_000005.10:g.142595483T>C	gnomAD
FGF1	P05230	p.Arg103Ser	rs778584449	missense variant	-	NC_000005.10:g.142595449C>G	ExAC,gnomAD
FGF1	P05230	p.Glu105Lys	rs1254681607	missense variant	-	NC_000005.10:g.142595445C>T	gnomAD
FGF1	P05230	p.Glu106Lys	rs1202711739	missense variant	-	NC_000005.10:g.142595442C>T	TOPMed,gnomAD
FGF1	P05230	p.His108Asp	rs770501980	missense variant	-	NC_000005.10:g.142595436G>C	ExAC,gnomAD
FGF1	P05230	p.Ile113Val	rs561960626	missense variant	-	NC_000005.10:g.142595421T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ile113Thr	rs1271039014	missense variant	-	NC_000005.10:g.142595420A>G	gnomAD
FGF1	P05230	p.Lys115Thr	rs1244139413	missense variant	-	NC_000005.10:g.142595414T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys116Asn	rs1338842264	missense variant	-	NC_000005.10:g.142595410C>G	gnomAD
FGF1	P05230	p.His117Gln	rs1357397469	missense variant	-	NC_000005.10:g.142595407A>T	gnomAD
FGF1	P05230	p.Ala118Pro	rs369740938	missense variant	-	NC_000005.10:g.142595406C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala118Val	rs1415333814	missense variant	-	NC_000005.10:g.142595405G>A	gnomAD
FGF1	P05230	p.Glu119Lys	rs1305923663	missense variant	-	NC_000005.10:g.142595403C>T	gnomAD
FGF1	P05230	p.Trp122Cys	rs780390744	missense variant	-	NC_000005.10:g.142595392C>A	ExAC,gnomAD
FGF1	P05230	p.Gly125Asp	rs902995255	missense variant	-	NC_000005.10:g.142595384C>T	TOPMed
FGF1	P05230	p.Lys127Arg	rs1190163641	missense variant	-	NC_000005.10:g.142595378T>C	gnomAD
FGF1	P05230	p.Ser131Asn	rs765303323	missense variant	-	NC_000005.10:g.142595366C>T	ExAC,gnomAD
FGF1	P05230	p.Cys132Gly	rs761839384	missense variant	-	NC_000005.10:g.142595364A>C	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Cys132Phe	rs1222942974	missense variant	-	NC_000005.10:g.142595363C>A	TOPMed
FGF1	P05230	p.Lys133Glu	rs754388820	missense variant	-	NC_000005.10:g.142595361T>C	ExAC,gnomAD
FGF1	P05230	p.Arg134Cys	rs764484123	missense variant	-	NC_000005.10:g.142595358G>A	ExAC,gnomAD
FGF1	P05230	p.Arg134His	rs145843967	missense variant	-	NC_000005.10:g.142595357C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134Pro	rs145843967	missense variant	-	NC_000005.10:g.142595357C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly135Ser	rs759270544	missense variant	-	NC_000005.10:g.142595355C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Pro136Ser	rs774109079	missense variant	-	NC_000005.10:g.142595352G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Trp	rs770590235	missense variant	-	NC_000005.10:g.142595349G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Gln	rs146745580	missense variant	-	NC_000005.10:g.142595348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Val	rs769616526	missense variant	-	NC_000005.10:g.142595325T>C	ExAC,gnomAD
FGF1	P05230	p.Ile145Thr	rs748034939	missense variant	-	NC_000005.10:g.142595324A>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Asn	rs748034939	missense variant	-	NC_000005.10:g.142595324A>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu146Phe	rs780860378	missense variant	-	NC_000005.10:g.142595320C>A	ExAC
FGF1	P05230	p.Phe147Leu	rs754699487	missense variant	-	NC_000005.10:g.142595319A>G	ExAC,gnomAD
FGF1	P05230	p.Leu148Pro	rs201277854	missense variant	-	NC_000005.10:g.142595315A>G	ExAC,gnomAD
FGF1	P05230	p.Pro149Leu	rs757372975	missense variant	-	NC_000005.10:g.142595312G>A	ExAC,gnomAD
FGF1	P05230	p.Leu150Met	rs764725960	missense variant	-	NC_000005.10:g.142595310G>T	ExAC,gnomAD
FGF1	P05230	p.Val152Ile	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>T	TOPMed,gnomAD
FGF1	P05230	p.Val152Leu	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>G	TOPMed,gnomAD
FGF1	P05230	p.Asp155Glu	rs1450056118	missense variant	-	NC_000005.10:g.142595293A>T	gnomAD
FGF1	P05230	p.Ala2Gly	rs552755699	missense variant	-	NC_000005.10:g.142614123G>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ala2Thr	rs758882195	missense variant	-	NC_000005.10:g.142614124C>T	ExAC,gnomAD
FGF1	P05230	p.Thr7Ile	rs138110926	missense variant	-	NC_000005.10:g.142614108G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala11Val	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>A	gnomAD
FGF1	P05230	p.Ala11Asp	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>T	gnomAD
FGF1	P05230	p.Leu12Pro	rs1403446036	missense variant	-	NC_000005.10:g.142614093A>G	gnomAD
FGF1	P05230	p.Thr13Ile	rs375379946	missense variant	-	NC_000005.10:g.142614090G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr13Asn	rs375379946	missense variant	-	NC_000005.10:g.142614090G>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Gln	rs529994538	missense variant	-	NC_000005.10:g.142614088C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Lys	rs529994538	missense variant	-	NC_000005.10:g.142614088C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys15Thr	rs997547008	missense variant	-	NC_000005.10:g.142614084T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys15Glu	rs1425477789	missense variant	-	NC_000005.10:g.142614085T>C	TOPMed
FGF1	P05230	p.Pro19Leu	rs1174067481	missense variant	-	NC_000005.10:g.142614072G>A	TOPMed
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	UniProt,dbSNP
FGF1	P05230	p.Gly21Glu	VAR_021357	missense variant	-	NC_000005.10:g.142614066C>T	UniProt
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys25Asn	rs770703997	missense variant	-	NC_000005.10:g.142614053C>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu28His	rs1368636111	missense variant	-	NC_000005.10:g.142614045A>T	TOPMed
FGF1	P05230	p.Leu29Ile	rs1004435823	missense variant	-	NC_000005.10:g.142614043G>T	TOPMed
FGF1	P05230	p.Cys31Trp	rs781436637	missense variant	-	NC_000005.10:g.142614035A>C	ExAC,gnomAD
FGF1	P05230	p.Cys31Tyr	rs1281851920	missense variant	-	NC_000005.10:g.142614036C>T	TOPMed
FGF1	P05230	p.Cys31Arg	rs748324402	missense variant	-	NC_000005.10:g.142614037A>G	ExAC,gnomAD
FGF1	P05230	p.Ser32Gly	rs557322408	missense variant	-	NC_000005.10:g.142614034T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ser32Ile	rs1323281277	missense variant	-	NC_000005.10:g.142614033C>A	TOPMed
FGF1	P05230	p.Gly34Arg	rs780745181	missense variant	-	NC_000005.10:g.142614028C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly35Val	rs1434024570	missense variant	-	NC_000005.10:g.142614024C>A	gnomAD
FGF1	P05230	p.His36Tyr	rs758967005	missense variant	-	NC_000005.10:g.142614022G>A	ExAC,gnomAD
FGF1	P05230	p.Phe37Leu	rs1323743663	missense variant	-	NC_000005.10:g.142614019A>G	gnomAD
FGF1	P05230	p.Leu41Arg	rs779156328	missense variant	-	NC_000005.10:g.142614006A>C	ExAC,gnomAD
FGF1	P05230	p.Pro42Leu	rs770103681	missense variant	-	NC_000005.10:g.142614003G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp43Gly	rs763784465	missense variant	-	NC_000005.10:g.142614000T>C	ExAC,gnomAD
FGF1	P05230	p.Gly44Asp	rs760222333	missense variant	-	NC_000005.10:g.142613997C>T	ExAC,gnomAD
FGF1	P05230	p.Asp47His	rs752202262	missense variant	-	NC_000005.10:g.142613989C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp47Gly	rs1490756504	missense variant	-	NC_000005.10:g.142613988T>C	TOPMed
FGF1	P05230	p.Gly48Ala	rs767502862	missense variant	-	NC_000005.10:g.142613985C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg52Lys	rs1222529936	missense variant	-	NC_000005.10:g.142613973C>T	gnomAD
FGF1	P05230	p.Asp54Asn	rs200931712	missense variant	-	NC_000005.10:g.142613968C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp54Glu	rs770662903	missense variant	-	NC_000005.10:g.142613966G>T	ExAC,gnomAD
FGF1	P05230	p.Leu59Pro	rs1397972024	missense variant	-	NC_000005.10:g.142600799A>G	gnomAD
FGF1	P05230	p.Gln60Ter	rs968262011	stop gained	-	NC_000005.10:g.142600797G>A	TOPMed
FGF1	P05230	p.Leu61Phe	rs1218989496	missense variant	-	NC_000005.10:g.142600794G>A	TOPMed
FGF1	P05230	p.Ala63Val	rs775873647	missense variant	-	NC_000005.10:g.142600787G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Val66Met	rs774480739	missense variant	-	NC_000005.10:g.142600779C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>A	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>G	ExAC,gnomAD
FGF1	P05230	p.Glu68Lys	rs749809722	missense variant	-	NC_000005.10:g.142600773C>T	ExAC,gnomAD
FGF1	P05230	p.Val69Leu	rs1415742259	missense variant	-	NC_000005.10:g.142600770C>A	TOPMed
FGF1	P05230	p.Ile71Arg	rs1318889609	missense variant	-	NC_000005.10:g.142600763A>C	TOPMed,gnomAD
FGF1	P05230	p.Ser73Asn	rs141211666	missense variant	-	NC_000005.10:g.142600757C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr74Ile	rs768468212	missense variant	-	NC_000005.10:g.142600754G>A	ExAC,gnomAD
FGF1	P05230	p.Glu75Gln	rs148224095	missense variant	-	NC_000005.10:g.142600752C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu75Lys	rs148224095	missense variant	-	NC_000005.10:g.142600752C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr76Pro	rs565742349	missense variant	-	NC_000005.10:g.142600749T>G	1000Genomes,ExAC
FGF1	P05230	p.Gly77Ser	rs375407078	missense variant	-	NC_000005.10:g.142600746C>T	ESP,TOPMed,gnomAD
FGF1	P05230	p.Gln78Leu	rs200708364	missense variant	-	NC_000005.10:g.142600742T>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78Arg	rs200708364	missense variant	-	NC_000005.10:g.142600742T>C	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78His	rs886552961	missense variant	-	NC_000005.10:g.142600741C>A	TOPMed
FGF1	P05230	p.Leu80Ser	rs757163595	missense variant	-	NC_000005.10:g.142600736A>G	ExAC,gnomAD
FGF1	P05230	p.Thr84Ser	rs1192531296	missense variant	-	NC_000005.10:g.142600724G>C	gnomAD
FGF1	P05230	p.Asp85Asn	rs1488617074	missense variant	-	NC_000005.10:g.142600722C>T	TOPMed,gnomAD
FGF1	P05230	p.Gly86Arg	rs767694313	missense variant	-	NC_000005.10:g.142600719C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Tyr89Cys	rs774373472	missense variant	-	NC_000005.10:g.142600709T>C	ExAC,gnomAD
FGF1	P05230	p.Tyr89Phe	rs774373472	missense variant	-	NC_000005.10:g.142600709T>A	ExAC,gnomAD
FGF1	P05230	p.Gly90Asp	rs773757340	missense variant	-	NC_000005.10:g.142600706C>T	ExAC,gnomAD
FGF1	P05230	p.Gly90Ser	rs762894941	missense variant	-	NC_000005.10:g.142600707C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln92Arg	rs1174301824	missense variant	-	NC_000005.10:g.142595483T>C	gnomAD
FGF1	P05230	p.Arg103Ser	rs778584449	missense variant	-	NC_000005.10:g.142595449C>G	ExAC,gnomAD
FGF1	P05230	p.Glu105Lys	rs1254681607	missense variant	-	NC_000005.10:g.142595445C>T	gnomAD
FGF1	P05230	p.Glu106Lys	rs1202711739	missense variant	-	NC_000005.10:g.142595442C>T	TOPMed,gnomAD
FGF1	P05230	p.His108Asp	rs770501980	missense variant	-	NC_000005.10:g.142595436G>C	ExAC,gnomAD
FGF1	P05230	p.Ile113Val	rs561960626	missense variant	-	NC_000005.10:g.142595421T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ile113Thr	rs1271039014	missense variant	-	NC_000005.10:g.142595420A>G	gnomAD
FGF1	P05230	p.Lys115Thr	rs1244139413	missense variant	-	NC_000005.10:g.142595414T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys116Asn	rs1338842264	missense variant	-	NC_000005.10:g.142595410C>G	gnomAD
FGF1	P05230	p.His117Gln	rs1357397469	missense variant	-	NC_000005.10:g.142595407A>T	gnomAD
FGF1	P05230	p.Ala118Val	rs1415333814	missense variant	-	NC_000005.10:g.142595405G>A	gnomAD
FGF1	P05230	p.Ala118Pro	rs369740938	missense variant	-	NC_000005.10:g.142595406C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu119Lys	rs1305923663	missense variant	-	NC_000005.10:g.142595403C>T	gnomAD
FGF1	P05230	p.Trp122Cys	rs780390744	missense variant	-	NC_000005.10:g.142595392C>A	ExAC,gnomAD
FGF1	P05230	p.Gly125Asp	rs902995255	missense variant	-	NC_000005.10:g.142595384C>T	TOPMed
FGF1	P05230	p.Lys127Arg	rs1190163641	missense variant	-	NC_000005.10:g.142595378T>C	gnomAD
FGF1	P05230	p.Ser131Asn	rs765303323	missense variant	-	NC_000005.10:g.142595366C>T	ExAC,gnomAD
FGF1	P05230	p.Cys132Gly	rs761839384	missense variant	-	NC_000005.10:g.142595364A>C	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Cys132Phe	rs1222942974	missense variant	-	NC_000005.10:g.142595363C>A	TOPMed
FGF1	P05230	p.Lys133Glu	rs754388820	missense variant	-	NC_000005.10:g.142595361T>C	ExAC,gnomAD
FGF1	P05230	p.Arg134Cys	rs764484123	missense variant	-	NC_000005.10:g.142595358G>A	ExAC,gnomAD
FGF1	P05230	p.Arg134His	rs145843967	missense variant	-	NC_000005.10:g.142595357C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134Pro	rs145843967	missense variant	-	NC_000005.10:g.142595357C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly135Ser	rs759270544	missense variant	-	NC_000005.10:g.142595355C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Pro136Ser	rs774109079	missense variant	-	NC_000005.10:g.142595352G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Trp	rs770590235	missense variant	-	NC_000005.10:g.142595349G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Gln	rs146745580	missense variant	-	NC_000005.10:g.142595348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Asn	rs748034939	missense variant	-	NC_000005.10:g.142595324A>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Val	rs769616526	missense variant	-	NC_000005.10:g.142595325T>C	ExAC,gnomAD
FGF1	P05230	p.Ile145Thr	rs748034939	missense variant	-	NC_000005.10:g.142595324A>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu146Phe	rs780860378	missense variant	-	NC_000005.10:g.142595320C>A	ExAC
FGF1	P05230	p.Phe147Leu	rs754699487	missense variant	-	NC_000005.10:g.142595319A>G	ExAC,gnomAD
FGF1	P05230	p.Leu148Pro	rs201277854	missense variant	-	NC_000005.10:g.142595315A>G	ExAC,gnomAD
FGF1	P05230	p.Pro149Leu	rs757372975	missense variant	-	NC_000005.10:g.142595312G>A	ExAC,gnomAD
FGF1	P05230	p.Leu150Met	rs764725960	missense variant	-	NC_000005.10:g.142595310G>T	ExAC,gnomAD
FGF1	P05230	p.Val152Ile	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>T	TOPMed,gnomAD
FGF1	P05230	p.Val152Leu	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>G	TOPMed,gnomAD
FGF1	P05230	p.Asp155Glu	rs1450056118	missense variant	-	NC_000005.10:g.142595293A>T	gnomAD
FGF1	P05230	p.Ala2Thr	rs758882195	missense variant	-	NC_000005.10:g.142614124C>T	ExAC,gnomAD
FGF1	P05230	p.Ala2Gly	rs552755699	missense variant	-	NC_000005.10:g.142614123G>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Thr7Ile	rs138110926	missense variant	-	NC_000005.10:g.142614108G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala11Val	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>A	gnomAD
FGF1	P05230	p.Ala11Asp	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>T	gnomAD
FGF1	P05230	p.Leu12Pro	rs1403446036	missense variant	-	NC_000005.10:g.142614093A>G	gnomAD
FGF1	P05230	p.Thr13Asn	rs375379946	missense variant	-	NC_000005.10:g.142614090G>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr13Ile	rs375379946	missense variant	-	NC_000005.10:g.142614090G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Gln	rs529994538	missense variant	-	NC_000005.10:g.142614088C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Lys	rs529994538	missense variant	-	NC_000005.10:g.142614088C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys15Thr	rs997547008	missense variant	-	NC_000005.10:g.142614084T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys15Glu	rs1425477789	missense variant	-	NC_000005.10:g.142614085T>C	TOPMed
FGF1	P05230	p.Pro19Leu	rs1174067481	missense variant	-	NC_000005.10:g.142614072G>A	TOPMed
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	UniProt,dbSNP
FGF1	P05230	p.Gly21Glu	VAR_021357	missense variant	-	NC_000005.10:g.142614066C>T	UniProt
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys25Asn	rs770703997	missense variant	-	NC_000005.10:g.142614053C>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu28His	rs1368636111	missense variant	-	NC_000005.10:g.142614045A>T	TOPMed
FGF1	P05230	p.Leu29Ile	rs1004435823	missense variant	-	NC_000005.10:g.142614043G>T	TOPMed
FGF1	P05230	p.Cys31Trp	rs781436637	missense variant	-	NC_000005.10:g.142614035A>C	ExAC,gnomAD
FGF1	P05230	p.Cys31Tyr	rs1281851920	missense variant	-	NC_000005.10:g.142614036C>T	TOPMed
FGF1	P05230	p.Cys31Arg	rs748324402	missense variant	-	NC_000005.10:g.142614037A>G	ExAC,gnomAD
FGF1	P05230	p.Ser32Gly	rs557322408	missense variant	-	NC_000005.10:g.142614034T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ser32Ile	rs1323281277	missense variant	-	NC_000005.10:g.142614033C>A	TOPMed
FGF1	P05230	p.Gly34Arg	rs780745181	missense variant	-	NC_000005.10:g.142614028C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly35Val	rs1434024570	missense variant	-	NC_000005.10:g.142614024C>A	gnomAD
FGF1	P05230	p.His36Tyr	rs758967005	missense variant	-	NC_000005.10:g.142614022G>A	ExAC,gnomAD
FGF1	P05230	p.Phe37Leu	rs1323743663	missense variant	-	NC_000005.10:g.142614019A>G	gnomAD
FGF1	P05230	p.Leu41Arg	rs779156328	missense variant	-	NC_000005.10:g.142614006A>C	ExAC,gnomAD
FGF1	P05230	p.Pro42Leu	rs770103681	missense variant	-	NC_000005.10:g.142614003G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp43Gly	rs763784465	missense variant	-	NC_000005.10:g.142614000T>C	ExAC,gnomAD
FGF1	P05230	p.Gly44Asp	rs760222333	missense variant	-	NC_000005.10:g.142613997C>T	ExAC,gnomAD
FGF1	P05230	p.Asp47His	rs752202262	missense variant	-	NC_000005.10:g.142613989C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp47Gly	rs1490756504	missense variant	-	NC_000005.10:g.142613988T>C	TOPMed
FGF1	P05230	p.Gly48Ala	rs767502862	missense variant	-	NC_000005.10:g.142613985C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg52Lys	rs1222529936	missense variant	-	NC_000005.10:g.142613973C>T	gnomAD
FGF1	P05230	p.Asp54Glu	rs770662903	missense variant	-	NC_000005.10:g.142613966G>T	ExAC,gnomAD
FGF1	P05230	p.Asp54Asn	rs200931712	missense variant	-	NC_000005.10:g.142613968C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu59Pro	rs1397972024	missense variant	-	NC_000005.10:g.142600799A>G	gnomAD
FGF1	P05230	p.Gln60Ter	rs968262011	stop gained	-	NC_000005.10:g.142600797G>A	TOPMed
FGF1	P05230	p.Leu61Phe	rs1218989496	missense variant	-	NC_000005.10:g.142600794G>A	TOPMed
FGF1	P05230	p.Ala63Val	rs775873647	missense variant	-	NC_000005.10:g.142600787G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Val66Met	rs774480739	missense variant	-	NC_000005.10:g.142600779C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>G	ExAC,gnomAD
FGF1	P05230	p.Glu68Lys	rs749809722	missense variant	-	NC_000005.10:g.142600773C>T	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>A	ExAC,gnomAD
FGF1	P05230	p.Val69Leu	rs1415742259	missense variant	-	NC_000005.10:g.142600770C>A	TOPMed
FGF1	P05230	p.Ile71Arg	rs1318889609	missense variant	-	NC_000005.10:g.142600763A>C	TOPMed,gnomAD
FGF1	P05230	p.Ser73Asn	rs141211666	missense variant	-	NC_000005.10:g.142600757C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr74Ile	rs768468212	missense variant	-	NC_000005.10:g.142600754G>A	ExAC,gnomAD
FGF1	P05230	p.Glu75Gln	rs148224095	missense variant	-	NC_000005.10:g.142600752C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu75Lys	rs148224095	missense variant	-	NC_000005.10:g.142600752C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr76Pro	rs565742349	missense variant	-	NC_000005.10:g.142600749T>G	1000Genomes,ExAC
FGF1	P05230	p.Gly77Ser	rs375407078	missense variant	-	NC_000005.10:g.142600746C>T	ESP,TOPMed,gnomAD
FGF1	P05230	p.Gln78Arg	rs200708364	missense variant	-	NC_000005.10:g.142600742T>C	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78His	rs886552961	missense variant	-	NC_000005.10:g.142600741C>A	TOPMed
FGF1	P05230	p.Gln78Leu	rs200708364	missense variant	-	NC_000005.10:g.142600742T>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu80Ser	rs757163595	missense variant	-	NC_000005.10:g.142600736A>G	ExAC,gnomAD
FGF1	P05230	p.Thr84Ser	rs1192531296	missense variant	-	NC_000005.10:g.142600724G>C	gnomAD
FGF1	P05230	p.Asp85Asn	rs1488617074	missense variant	-	NC_000005.10:g.142600722C>T	TOPMed,gnomAD
FGF1	P05230	p.Gly86Arg	rs767694313	missense variant	-	NC_000005.10:g.142600719C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Tyr89Phe	rs774373472	missense variant	-	NC_000005.10:g.142600709T>A	ExAC,gnomAD
FGF1	P05230	p.Tyr89Cys	rs774373472	missense variant	-	NC_000005.10:g.142600709T>C	ExAC,gnomAD
FGF1	P05230	p.Gly90Ser	rs762894941	missense variant	-	NC_000005.10:g.142600707C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly90Asp	rs773757340	missense variant	-	NC_000005.10:g.142600706C>T	ExAC,gnomAD
FGF1	P05230	p.Gln92Arg	rs1174301824	missense variant	-	NC_000005.10:g.142595483T>C	gnomAD
FGF1	P05230	p.Arg103Ser	rs778584449	missense variant	-	NC_000005.10:g.142595449C>G	ExAC,gnomAD
FGF1	P05230	p.Glu105Lys	rs1254681607	missense variant	-	NC_000005.10:g.142595445C>T	gnomAD
FGF1	P05230	p.Glu106Lys	rs1202711739	missense variant	-	NC_000005.10:g.142595442C>T	TOPMed,gnomAD
FGF1	P05230	p.His108Asp	rs770501980	missense variant	-	NC_000005.10:g.142595436G>C	ExAC,gnomAD
FGF1	P05230	p.Ile113Val	rs561960626	missense variant	-	NC_000005.10:g.142595421T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ile113Thr	rs1271039014	missense variant	-	NC_000005.10:g.142595420A>G	gnomAD
FGF1	P05230	p.Lys115Thr	rs1244139413	missense variant	-	NC_000005.10:g.142595414T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys116Asn	rs1338842264	missense variant	-	NC_000005.10:g.142595410C>G	gnomAD
FGF1	P05230	p.His117Gln	rs1357397469	missense variant	-	NC_000005.10:g.142595407A>T	gnomAD
FGF1	P05230	p.Ala118Val	rs1415333814	missense variant	-	NC_000005.10:g.142595405G>A	gnomAD
FGF1	P05230	p.Ala118Pro	rs369740938	missense variant	-	NC_000005.10:g.142595406C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu119Lys	rs1305923663	missense variant	-	NC_000005.10:g.142595403C>T	gnomAD
FGF1	P05230	p.Trp122Cys	rs780390744	missense variant	-	NC_000005.10:g.142595392C>A	ExAC,gnomAD
FGF1	P05230	p.Gly125Asp	rs902995255	missense variant	-	NC_000005.10:g.142595384C>T	TOPMed
FGF1	P05230	p.Lys127Arg	rs1190163641	missense variant	-	NC_000005.10:g.142595378T>C	gnomAD
FGF1	P05230	p.Ser131Asn	rs765303323	missense variant	-	NC_000005.10:g.142595366C>T	ExAC,gnomAD
FGF1	P05230	p.Cys132Gly	rs761839384	missense variant	-	NC_000005.10:g.142595364A>C	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Cys132Phe	rs1222942974	missense variant	-	NC_000005.10:g.142595363C>A	TOPMed
FGF1	P05230	p.Lys133Glu	rs754388820	missense variant	-	NC_000005.10:g.142595361T>C	ExAC,gnomAD
FGF1	P05230	p.Arg134Cys	rs764484123	missense variant	-	NC_000005.10:g.142595358G>A	ExAC,gnomAD
FGF1	P05230	p.Arg134Pro	rs145843967	missense variant	-	NC_000005.10:g.142595357C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134His	rs145843967	missense variant	-	NC_000005.10:g.142595357C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly135Ser	rs759270544	missense variant	-	NC_000005.10:g.142595355C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Pro136Ser	rs774109079	missense variant	-	NC_000005.10:g.142595352G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Trp	rs770590235	missense variant	-	NC_000005.10:g.142595349G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Gln	rs146745580	missense variant	-	NC_000005.10:g.142595348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Asn	rs748034939	missense variant	-	NC_000005.10:g.142595324A>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Val	rs769616526	missense variant	-	NC_000005.10:g.142595325T>C	ExAC,gnomAD
FGF1	P05230	p.Ile145Thr	rs748034939	missense variant	-	NC_000005.10:g.142595324A>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu146Phe	rs780860378	missense variant	-	NC_000005.10:g.142595320C>A	ExAC
FGF1	P05230	p.Phe147Leu	rs754699487	missense variant	-	NC_000005.10:g.142595319A>G	ExAC,gnomAD
FGF1	P05230	p.Leu148Pro	rs201277854	missense variant	-	NC_000005.10:g.142595315A>G	ExAC,gnomAD
FGF1	P05230	p.Pro149Leu	rs757372975	missense variant	-	NC_000005.10:g.142595312G>A	ExAC,gnomAD
FGF1	P05230	p.Leu150Met	rs764725960	missense variant	-	NC_000005.10:g.142595310G>T	ExAC,gnomAD
FGF1	P05230	p.Val152Ile	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>T	TOPMed,gnomAD
FGF1	P05230	p.Val152Leu	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>G	TOPMed,gnomAD
FGF1	P05230	p.Asp155Glu	rs1450056118	missense variant	-	NC_000005.10:g.142595293A>T	gnomAD
FGF1	P05230	p.Ala2Gly	rs552755699	missense variant	-	NC_000005.10:g.142614123G>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ala2Thr	rs758882195	missense variant	-	NC_000005.10:g.142614124C>T	ExAC,gnomAD
FGF1	P05230	p.Thr7Ile	rs138110926	missense variant	-	NC_000005.10:g.142614108G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala11Val	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>A	gnomAD
FGF1	P05230	p.Ala11Asp	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>T	gnomAD
FGF1	P05230	p.Leu12Pro	rs1403446036	missense variant	-	NC_000005.10:g.142614093A>G	gnomAD
FGF1	P05230	p.Thr13Ile	rs375379946	missense variant	-	NC_000005.10:g.142614090G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr13Asn	rs375379946	missense variant	-	NC_000005.10:g.142614090G>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Gln	rs529994538	missense variant	-	NC_000005.10:g.142614088C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Lys	rs529994538	missense variant	-	NC_000005.10:g.142614088C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys15Glu	rs1425477789	missense variant	-	NC_000005.10:g.142614085T>C	TOPMed
FGF1	P05230	p.Lys15Thr	rs997547008	missense variant	-	NC_000005.10:g.142614084T>G	TOPMed,gnomAD
FGF1	P05230	p.Pro19Leu	rs1174067481	missense variant	-	NC_000005.10:g.142614072G>A	TOPMed
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	UniProt,dbSNP
FGF1	P05230	p.Gly21Glu	VAR_021357	missense variant	-	NC_000005.10:g.142614066C>T	UniProt
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys25Asn	rs770703997	missense variant	-	NC_000005.10:g.142614053C>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu28His	rs1368636111	missense variant	-	NC_000005.10:g.142614045A>T	TOPMed
FGF1	P05230	p.Leu29Ile	rs1004435823	missense variant	-	NC_000005.10:g.142614043G>T	TOPMed
FGF1	P05230	p.Cys31Arg	rs748324402	missense variant	-	NC_000005.10:g.142614037A>G	ExAC,gnomAD
FGF1	P05230	p.Cys31Tyr	rs1281851920	missense variant	-	NC_000005.10:g.142614036C>T	TOPMed
FGF1	P05230	p.Cys31Trp	rs781436637	missense variant	-	NC_000005.10:g.142614035A>C	ExAC,gnomAD
FGF1	P05230	p.Ser32Gly	rs557322408	missense variant	-	NC_000005.10:g.142614034T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ser32Ile	rs1323281277	missense variant	-	NC_000005.10:g.142614033C>A	TOPMed
FGF1	P05230	p.Gly34Arg	rs780745181	missense variant	-	NC_000005.10:g.142614028C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly35Val	rs1434024570	missense variant	-	NC_000005.10:g.142614024C>A	gnomAD
FGF1	P05230	p.His36Tyr	rs758967005	missense variant	-	NC_000005.10:g.142614022G>A	ExAC,gnomAD
FGF1	P05230	p.Phe37Leu	rs1323743663	missense variant	-	NC_000005.10:g.142614019A>G	gnomAD
FGF1	P05230	p.Leu41Arg	rs779156328	missense variant	-	NC_000005.10:g.142614006A>C	ExAC,gnomAD
FGF1	P05230	p.Pro42Leu	rs770103681	missense variant	-	NC_000005.10:g.142614003G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp43Gly	rs763784465	missense variant	-	NC_000005.10:g.142614000T>C	ExAC,gnomAD
FGF1	P05230	p.Gly44Asp	rs760222333	missense variant	-	NC_000005.10:g.142613997C>T	ExAC,gnomAD
FGF1	P05230	p.Asp47His	rs752202262	missense variant	-	NC_000005.10:g.142613989C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp47Gly	rs1490756504	missense variant	-	NC_000005.10:g.142613988T>C	TOPMed
FGF1	P05230	p.Gly48Ala	rs767502862	missense variant	-	NC_000005.10:g.142613985C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg52Lys	rs1222529936	missense variant	-	NC_000005.10:g.142613973C>T	gnomAD
FGF1	P05230	p.Asp54Glu	rs770662903	missense variant	-	NC_000005.10:g.142613966G>T	ExAC,gnomAD
FGF1	P05230	p.Asp54Asn	rs200931712	missense variant	-	NC_000005.10:g.142613968C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu59Pro	rs1397972024	missense variant	-	NC_000005.10:g.142600799A>G	gnomAD
FGF1	P05230	p.Gln60Ter	rs968262011	stop gained	-	NC_000005.10:g.142600797G>A	TOPMed
FGF1	P05230	p.Leu61Phe	rs1218989496	missense variant	-	NC_000005.10:g.142600794G>A	TOPMed
FGF1	P05230	p.Ala63Val	rs775873647	missense variant	-	NC_000005.10:g.142600787G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Val66Met	rs774480739	missense variant	-	NC_000005.10:g.142600779C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu68Lys	rs749809722	missense variant	-	NC_000005.10:g.142600773C>T	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>G	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>A	ExAC,gnomAD
FGF1	P05230	p.Val69Leu	rs1415742259	missense variant	-	NC_000005.10:g.142600770C>A	TOPMed
FGF1	P05230	p.Ile71Arg	rs1318889609	missense variant	-	NC_000005.10:g.142600763A>C	TOPMed,gnomAD
FGF1	P05230	p.Ser73Asn	rs141211666	missense variant	-	NC_000005.10:g.142600757C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr74Ile	rs768468212	missense variant	-	NC_000005.10:g.142600754G>A	ExAC,gnomAD
FGF1	P05230	p.Glu75Lys	rs148224095	missense variant	-	NC_000005.10:g.142600752C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu75Gln	rs148224095	missense variant	-	NC_000005.10:g.142600752C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr76Pro	rs565742349	missense variant	-	NC_000005.10:g.142600749T>G	1000Genomes,ExAC
FGF1	P05230	p.Gly77Ser	rs375407078	missense variant	-	NC_000005.10:g.142600746C>T	ESP,TOPMed,gnomAD
FGF1	P05230	p.Gln78His	rs886552961	missense variant	-	NC_000005.10:g.142600741C>A	TOPMed
FGF1	P05230	p.Gln78Arg	rs200708364	missense variant	-	NC_000005.10:g.142600742T>C	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78Leu	rs200708364	missense variant	-	NC_000005.10:g.142600742T>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu80Ser	rs757163595	missense variant	-	NC_000005.10:g.142600736A>G	ExAC,gnomAD
FGF1	P05230	p.Thr84Ser	rs1192531296	missense variant	-	NC_000005.10:g.142600724G>C	gnomAD
FGF1	P05230	p.Asp85Asn	rs1488617074	missense variant	-	NC_000005.10:g.142600722C>T	TOPMed,gnomAD
FGF1	P05230	p.Gly86Arg	rs767694313	missense variant	-	NC_000005.10:g.142600719C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Tyr89Phe	rs774373472	missense variant	-	NC_000005.10:g.142600709T>A	ExAC,gnomAD
FGF1	P05230	p.Tyr89Cys	rs774373472	missense variant	-	NC_000005.10:g.142600709T>C	ExAC,gnomAD
FGF1	P05230	p.Gly90Ser	rs762894941	missense variant	-	NC_000005.10:g.142600707C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly90Asp	rs773757340	missense variant	-	NC_000005.10:g.142600706C>T	ExAC,gnomAD
FGF1	P05230	p.Gln92Arg	rs1174301824	missense variant	-	NC_000005.10:g.142595483T>C	gnomAD
FGF1	P05230	p.Arg103Ser	rs778584449	missense variant	-	NC_000005.10:g.142595449C>G	ExAC,gnomAD
FGF1	P05230	p.Glu105Lys	rs1254681607	missense variant	-	NC_000005.10:g.142595445C>T	gnomAD
FGF1	P05230	p.Glu106Lys	rs1202711739	missense variant	-	NC_000005.10:g.142595442C>T	TOPMed,gnomAD
FGF1	P05230	p.His108Asp	rs770501980	missense variant	-	NC_000005.10:g.142595436G>C	ExAC,gnomAD
FGF1	P05230	p.Ile113Thr	rs1271039014	missense variant	-	NC_000005.10:g.142595420A>G	gnomAD
FGF1	P05230	p.Ile113Val	rs561960626	missense variant	-	NC_000005.10:g.142595421T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Lys115Thr	rs1244139413	missense variant	-	NC_000005.10:g.142595414T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys116Asn	rs1338842264	missense variant	-	NC_000005.10:g.142595410C>G	gnomAD
FGF1	P05230	p.His117Gln	rs1357397469	missense variant	-	NC_000005.10:g.142595407A>T	gnomAD
FGF1	P05230	p.Ala118Val	rs1415333814	missense variant	-	NC_000005.10:g.142595405G>A	gnomAD
FGF1	P05230	p.Ala118Pro	rs369740938	missense variant	-	NC_000005.10:g.142595406C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu119Lys	rs1305923663	missense variant	-	NC_000005.10:g.142595403C>T	gnomAD
FGF1	P05230	p.Trp122Cys	rs780390744	missense variant	-	NC_000005.10:g.142595392C>A	ExAC,gnomAD
FGF1	P05230	p.Gly125Asp	rs902995255	missense variant	-	NC_000005.10:g.142595384C>T	TOPMed
FGF1	P05230	p.Lys127Arg	rs1190163641	missense variant	-	NC_000005.10:g.142595378T>C	gnomAD
FGF1	P05230	p.Ser131Asn	rs765303323	missense variant	-	NC_000005.10:g.142595366C>T	ExAC,gnomAD
FGF1	P05230	p.Cys132Phe	rs1222942974	missense variant	-	NC_000005.10:g.142595363C>A	TOPMed
FGF1	P05230	p.Cys132Gly	rs761839384	missense variant	-	NC_000005.10:g.142595364A>C	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys133Glu	rs754388820	missense variant	-	NC_000005.10:g.142595361T>C	ExAC,gnomAD
FGF1	P05230	p.Arg134Pro	rs145843967	missense variant	-	NC_000005.10:g.142595357C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134His	rs145843967	missense variant	-	NC_000005.10:g.142595357C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134Cys	rs764484123	missense variant	-	NC_000005.10:g.142595358G>A	ExAC,gnomAD
FGF1	P05230	p.Gly135Ser	rs759270544	missense variant	-	NC_000005.10:g.142595355C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Pro136Ser	rs774109079	missense variant	-	NC_000005.10:g.142595352G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Trp	rs770590235	missense variant	-	NC_000005.10:g.142595349G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Gln	rs146745580	missense variant	-	NC_000005.10:g.142595348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Thr	rs748034939	missense variant	-	NC_000005.10:g.142595324A>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Asn	rs748034939	missense variant	-	NC_000005.10:g.142595324A>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Val	rs769616526	missense variant	-	NC_000005.10:g.142595325T>C	ExAC,gnomAD
FGF1	P05230	p.Leu146Phe	rs780860378	missense variant	-	NC_000005.10:g.142595320C>A	ExAC
FGF1	P05230	p.Phe147Leu	rs754699487	missense variant	-	NC_000005.10:g.142595319A>G	ExAC,gnomAD
FGF1	P05230	p.Leu148Pro	rs201277854	missense variant	-	NC_000005.10:g.142595315A>G	ExAC,gnomAD
FGF1	P05230	p.Pro149Leu	rs757372975	missense variant	-	NC_000005.10:g.142595312G>A	ExAC,gnomAD
FGF1	P05230	p.Leu150Met	rs764725960	missense variant	-	NC_000005.10:g.142595310G>T	ExAC,gnomAD
FGF1	P05230	p.Val152Ile	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>T	TOPMed,gnomAD
FGF1	P05230	p.Val152Leu	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>G	TOPMed,gnomAD
FGF1	P05230	p.Asp155Glu	rs1450056118	missense variant	-	NC_000005.10:g.142595293A>T	gnomAD
FGF1	P05230	p.Ala2Gly	rs552755699	missense variant	-	NC_000005.10:g.142614123G>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ala2Thr	rs758882195	missense variant	-	NC_000005.10:g.142614124C>T	ExAC,gnomAD
FGF1	P05230	p.Thr7Ile	rs138110926	missense variant	-	NC_000005.10:g.142614108G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala11Val	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>A	gnomAD
FGF1	P05230	p.Ala11Asp	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>T	gnomAD
FGF1	P05230	p.Leu12Pro	rs1403446036	missense variant	-	NC_000005.10:g.142614093A>G	gnomAD
FGF1	P05230	p.Thr13Ile	rs375379946	missense variant	-	NC_000005.10:g.142614090G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr13Asn	rs375379946	missense variant	-	NC_000005.10:g.142614090G>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Lys	rs529994538	missense variant	-	NC_000005.10:g.142614088C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Gln	rs529994538	missense variant	-	NC_000005.10:g.142614088C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys15Thr	rs997547008	missense variant	-	NC_000005.10:g.142614084T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys15Glu	rs1425477789	missense variant	-	NC_000005.10:g.142614085T>C	TOPMed
FGF1	P05230	p.Pro19Leu	rs1174067481	missense variant	-	NC_000005.10:g.142614072G>A	TOPMed
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	UniProt,dbSNP
FGF1	P05230	p.Gly21Glu	VAR_021357	missense variant	-	NC_000005.10:g.142614066C>T	UniProt
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys25Asn	rs770703997	missense variant	-	NC_000005.10:g.142614053C>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu28His	rs1368636111	missense variant	-	NC_000005.10:g.142614045A>T	TOPMed
FGF1	P05230	p.Leu29Ile	rs1004435823	missense variant	-	NC_000005.10:g.142614043G>T	TOPMed
FGF1	P05230	p.Cys31Trp	rs781436637	missense variant	-	NC_000005.10:g.142614035A>C	ExAC,gnomAD
FGF1	P05230	p.Cys31Arg	rs748324402	missense variant	-	NC_000005.10:g.142614037A>G	ExAC,gnomAD
FGF1	P05230	p.Cys31Tyr	rs1281851920	missense variant	-	NC_000005.10:g.142614036C>T	TOPMed
FGF1	P05230	p.Ser32Gly	rs557322408	missense variant	-	NC_000005.10:g.142614034T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ser32Ile	rs1323281277	missense variant	-	NC_000005.10:g.142614033C>A	TOPMed
FGF1	P05230	p.Gly34Arg	rs780745181	missense variant	-	NC_000005.10:g.142614028C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly35Val	rs1434024570	missense variant	-	NC_000005.10:g.142614024C>A	gnomAD
FGF1	P05230	p.His36Tyr	rs758967005	missense variant	-	NC_000005.10:g.142614022G>A	ExAC,gnomAD
FGF1	P05230	p.Phe37Leu	rs1323743663	missense variant	-	NC_000005.10:g.142614019A>G	gnomAD
FGF1	P05230	p.Leu41Arg	rs779156328	missense variant	-	NC_000005.10:g.142614006A>C	ExAC,gnomAD
FGF1	P05230	p.Pro42Leu	rs770103681	missense variant	-	NC_000005.10:g.142614003G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp43Gly	rs763784465	missense variant	-	NC_000005.10:g.142614000T>C	ExAC,gnomAD
FGF1	P05230	p.Gly44Asp	rs760222333	missense variant	-	NC_000005.10:g.142613997C>T	ExAC,gnomAD
FGF1	P05230	p.Asp47His	rs752202262	missense variant	-	NC_000005.10:g.142613989C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp47Gly	rs1490756504	missense variant	-	NC_000005.10:g.142613988T>C	TOPMed
FGF1	P05230	p.Gly48Ala	rs767502862	missense variant	-	NC_000005.10:g.142613985C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg52Lys	rs1222529936	missense variant	-	NC_000005.10:g.142613973C>T	gnomAD
FGF1	P05230	p.Asp54Glu	rs770662903	missense variant	-	NC_000005.10:g.142613966G>T	ExAC,gnomAD
FGF1	P05230	p.Asp54Asn	rs200931712	missense variant	-	NC_000005.10:g.142613968C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu59Pro	rs1397972024	missense variant	-	NC_000005.10:g.142600799A>G	gnomAD
FGF1	P05230	p.Gln60Ter	rs968262011	stop gained	-	NC_000005.10:g.142600797G>A	TOPMed
FGF1	P05230	p.Leu61Phe	rs1218989496	missense variant	-	NC_000005.10:g.142600794G>A	TOPMed
FGF1	P05230	p.Ala63Val	rs775873647	missense variant	-	NC_000005.10:g.142600787G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Val66Met	rs774480739	missense variant	-	NC_000005.10:g.142600779C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>G	ExAC,gnomAD
FGF1	P05230	p.Glu68Lys	rs749809722	missense variant	-	NC_000005.10:g.142600773C>T	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>A	ExAC,gnomAD
FGF1	P05230	p.Val69Leu	rs1415742259	missense variant	-	NC_000005.10:g.142600770C>A	TOPMed
FGF1	P05230	p.Ile71Arg	rs1318889609	missense variant	-	NC_000005.10:g.142600763A>C	TOPMed,gnomAD
FGF1	P05230	p.Ser73Asn	rs141211666	missense variant	-	NC_000005.10:g.142600757C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr74Ile	rs768468212	missense variant	-	NC_000005.10:g.142600754G>A	ExAC,gnomAD
FGF1	P05230	p.Glu75Lys	rs148224095	missense variant	-	NC_000005.10:g.142600752C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu75Gln	rs148224095	missense variant	-	NC_000005.10:g.142600752C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr76Pro	rs565742349	missense variant	-	NC_000005.10:g.142600749T>G	1000Genomes,ExAC
FGF1	P05230	p.Gly77Ser	rs375407078	missense variant	-	NC_000005.10:g.142600746C>T	ESP,TOPMed,gnomAD
FGF1	P05230	p.Gln78Arg	rs200708364	missense variant	-	NC_000005.10:g.142600742T>C	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78His	rs886552961	missense variant	-	NC_000005.10:g.142600741C>A	TOPMed
FGF1	P05230	p.Gln78Leu	rs200708364	missense variant	-	NC_000005.10:g.142600742T>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu80Ser	rs757163595	missense variant	-	NC_000005.10:g.142600736A>G	ExAC,gnomAD
FGF1	P05230	p.Thr84Ser	rs1192531296	missense variant	-	NC_000005.10:g.142600724G>C	gnomAD
FGF1	P05230	p.Asp85Asn	rs1488617074	missense variant	-	NC_000005.10:g.142600722C>T	TOPMed,gnomAD
FGF1	P05230	p.Gly86Arg	rs767694313	missense variant	-	NC_000005.10:g.142600719C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Tyr89Phe	rs774373472	missense variant	-	NC_000005.10:g.142600709T>A	ExAC,gnomAD
FGF1	P05230	p.Tyr89Cys	rs774373472	missense variant	-	NC_000005.10:g.142600709T>C	ExAC,gnomAD
FGF1	P05230	p.Gly90Asp	rs773757340	missense variant	-	NC_000005.10:g.142600706C>T	ExAC,gnomAD
FGF1	P05230	p.Gly90Ser	rs762894941	missense variant	-	NC_000005.10:g.142600707C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln92Arg	rs1174301824	missense variant	-	NC_000005.10:g.142595483T>C	gnomAD
FGF1	P05230	p.Arg103Ser	rs778584449	missense variant	-	NC_000005.10:g.142595449C>G	ExAC,gnomAD
FGF1	P05230	p.Glu105Lys	rs1254681607	missense variant	-	NC_000005.10:g.142595445C>T	gnomAD
FGF1	P05230	p.Glu106Lys	rs1202711739	missense variant	-	NC_000005.10:g.142595442C>T	TOPMed,gnomAD
FGF1	P05230	p.His108Asp	rs770501980	missense variant	-	NC_000005.10:g.142595436G>C	ExAC,gnomAD
FGF1	P05230	p.Ile113Val	rs561960626	missense variant	-	NC_000005.10:g.142595421T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ile113Thr	rs1271039014	missense variant	-	NC_000005.10:g.142595420A>G	gnomAD
FGF1	P05230	p.Lys115Thr	rs1244139413	missense variant	-	NC_000005.10:g.142595414T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys116Asn	rs1338842264	missense variant	-	NC_000005.10:g.142595410C>G	gnomAD
FGF1	P05230	p.His117Gln	rs1357397469	missense variant	-	NC_000005.10:g.142595407A>T	gnomAD
FGF1	P05230	p.Ala118Val	rs1415333814	missense variant	-	NC_000005.10:g.142595405G>A	gnomAD
FGF1	P05230	p.Ala118Pro	rs369740938	missense variant	-	NC_000005.10:g.142595406C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu119Lys	rs1305923663	missense variant	-	NC_000005.10:g.142595403C>T	gnomAD
FGF1	P05230	p.Trp122Cys	rs780390744	missense variant	-	NC_000005.10:g.142595392C>A	ExAC,gnomAD
FGF1	P05230	p.Gly125Asp	rs902995255	missense variant	-	NC_000005.10:g.142595384C>T	TOPMed
FGF1	P05230	p.Lys127Arg	rs1190163641	missense variant	-	NC_000005.10:g.142595378T>C	gnomAD
FGF1	P05230	p.Ser131Asn	rs765303323	missense variant	-	NC_000005.10:g.142595366C>T	ExAC,gnomAD
FGF1	P05230	p.Cys132Gly	rs761839384	missense variant	-	NC_000005.10:g.142595364A>C	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Cys132Phe	rs1222942974	missense variant	-	NC_000005.10:g.142595363C>A	TOPMed
FGF1	P05230	p.Lys133Glu	rs754388820	missense variant	-	NC_000005.10:g.142595361T>C	ExAC,gnomAD
FGF1	P05230	p.Arg134Cys	rs764484123	missense variant	-	NC_000005.10:g.142595358G>A	ExAC,gnomAD
FGF1	P05230	p.Arg134Pro	rs145843967	missense variant	-	NC_000005.10:g.142595357C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134His	rs145843967	missense variant	-	NC_000005.10:g.142595357C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly135Ser	rs759270544	missense variant	-	NC_000005.10:g.142595355C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Pro136Ser	rs774109079	missense variant	-	NC_000005.10:g.142595352G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Trp	rs770590235	missense variant	-	NC_000005.10:g.142595349G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Gln	rs146745580	missense variant	-	NC_000005.10:g.142595348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Val	rs769616526	missense variant	-	NC_000005.10:g.142595325T>C	ExAC,gnomAD
FGF1	P05230	p.Ile145Thr	rs748034939	missense variant	-	NC_000005.10:g.142595324A>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Asn	rs748034939	missense variant	-	NC_000005.10:g.142595324A>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu146Phe	rs780860378	missense variant	-	NC_000005.10:g.142595320C>A	ExAC
FGF1	P05230	p.Phe147Leu	rs754699487	missense variant	-	NC_000005.10:g.142595319A>G	ExAC,gnomAD
FGF1	P05230	p.Leu148Pro	rs201277854	missense variant	-	NC_000005.10:g.142595315A>G	ExAC,gnomAD
FGF1	P05230	p.Pro149Leu	rs757372975	missense variant	-	NC_000005.10:g.142595312G>A	ExAC,gnomAD
FGF1	P05230	p.Leu150Met	rs764725960	missense variant	-	NC_000005.10:g.142595310G>T	ExAC,gnomAD
FGF1	P05230	p.Val152Ile	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>T	TOPMed,gnomAD
FGF1	P05230	p.Val152Leu	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>G	TOPMed,gnomAD
FGF1	P05230	p.Asp155Glu	rs1450056118	missense variant	-	NC_000005.10:g.142595293A>T	gnomAD
FGF1	P05230	p.Ala2Gly	rs552755699	missense variant	-	NC_000005.10:g.142614123G>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ala2Thr	rs758882195	missense variant	-	NC_000005.10:g.142614124C>T	ExAC,gnomAD
FGF1	P05230	p.Thr7Ile	rs138110926	missense variant	-	NC_000005.10:g.142614108G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala11Val	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>A	gnomAD
FGF1	P05230	p.Ala11Asp	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>T	gnomAD
FGF1	P05230	p.Leu12Pro	rs1403446036	missense variant	-	NC_000005.10:g.142614093A>G	gnomAD
FGF1	P05230	p.Thr13Ile	rs375379946	missense variant	-	NC_000005.10:g.142614090G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr13Asn	rs375379946	missense variant	-	NC_000005.10:g.142614090G>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Gln	rs529994538	missense variant	-	NC_000005.10:g.142614088C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Lys	rs529994538	missense variant	-	NC_000005.10:g.142614088C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys15Thr	rs997547008	missense variant	-	NC_000005.10:g.142614084T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys15Glu	rs1425477789	missense variant	-	NC_000005.10:g.142614085T>C	TOPMed
FGF1	P05230	p.Pro19Leu	rs1174067481	missense variant	-	NC_000005.10:g.142614072G>A	TOPMed
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	UniProt,dbSNP
FGF1	P05230	p.Gly21Glu	VAR_021357	missense variant	-	NC_000005.10:g.142614066C>T	UniProt
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys25Asn	rs770703997	missense variant	-	NC_000005.10:g.142614053C>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu28His	rs1368636111	missense variant	-	NC_000005.10:g.142614045A>T	TOPMed
FGF1	P05230	p.Leu29Ile	rs1004435823	missense variant	-	NC_000005.10:g.142614043G>T	TOPMed
FGF1	P05230	p.Cys31Trp	rs781436637	missense variant	-	NC_000005.10:g.142614035A>C	ExAC,gnomAD
FGF1	P05230	p.Cys31Tyr	rs1281851920	missense variant	-	NC_000005.10:g.142614036C>T	TOPMed
FGF1	P05230	p.Cys31Arg	rs748324402	missense variant	-	NC_000005.10:g.142614037A>G	ExAC,gnomAD
FGF1	P05230	p.Ser32Ile	rs1323281277	missense variant	-	NC_000005.10:g.142614033C>A	TOPMed
FGF1	P05230	p.Ser32Gly	rs557322408	missense variant	-	NC_000005.10:g.142614034T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Gly34Arg	rs780745181	missense variant	-	NC_000005.10:g.142614028C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly35Val	rs1434024570	missense variant	-	NC_000005.10:g.142614024C>A	gnomAD
FGF1	P05230	p.His36Tyr	rs758967005	missense variant	-	NC_000005.10:g.142614022G>A	ExAC,gnomAD
FGF1	P05230	p.Phe37Leu	rs1323743663	missense variant	-	NC_000005.10:g.142614019A>G	gnomAD
FGF1	P05230	p.Leu41Arg	rs779156328	missense variant	-	NC_000005.10:g.142614006A>C	ExAC,gnomAD
FGF1	P05230	p.Pro42Leu	rs770103681	missense variant	-	NC_000005.10:g.142614003G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp43Gly	rs763784465	missense variant	-	NC_000005.10:g.142614000T>C	ExAC,gnomAD
FGF1	P05230	p.Gly44Asp	rs760222333	missense variant	-	NC_000005.10:g.142613997C>T	ExAC,gnomAD
FGF1	P05230	p.Asp47His	rs752202262	missense variant	-	NC_000005.10:g.142613989C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp47Gly	rs1490756504	missense variant	-	NC_000005.10:g.142613988T>C	TOPMed
FGF1	P05230	p.Gly48Ala	rs767502862	missense variant	-	NC_000005.10:g.142613985C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg52Lys	rs1222529936	missense variant	-	NC_000005.10:g.142613973C>T	gnomAD
FGF1	P05230	p.Asp54Asn	rs200931712	missense variant	-	NC_000005.10:g.142613968C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp54Glu	rs770662903	missense variant	-	NC_000005.10:g.142613966G>T	ExAC,gnomAD
FGF1	P05230	p.Leu59Pro	rs1397972024	missense variant	-	NC_000005.10:g.142600799A>G	gnomAD
FGF1	P05230	p.Gln60Ter	rs968262011	stop gained	-	NC_000005.10:g.142600797G>A	TOPMed
FGF1	P05230	p.Leu61Phe	rs1218989496	missense variant	-	NC_000005.10:g.142600794G>A	TOPMed
FGF1	P05230	p.Ala63Val	rs775873647	missense variant	-	NC_000005.10:g.142600787G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Val66Met	rs774480739	missense variant	-	NC_000005.10:g.142600779C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu68Lys	rs749809722	missense variant	-	NC_000005.10:g.142600773C>T	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>G	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>A	ExAC,gnomAD
FGF1	P05230	p.Val69Leu	rs1415742259	missense variant	-	NC_000005.10:g.142600770C>A	TOPMed
FGF1	P05230	p.Ile71Arg	rs1318889609	missense variant	-	NC_000005.10:g.142600763A>C	TOPMed,gnomAD
FGF1	P05230	p.Ser73Asn	rs141211666	missense variant	-	NC_000005.10:g.142600757C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr74Ile	rs768468212	missense variant	-	NC_000005.10:g.142600754G>A	ExAC,gnomAD
FGF1	P05230	p.Glu75Gln	rs148224095	missense variant	-	NC_000005.10:g.142600752C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu75Lys	rs148224095	missense variant	-	NC_000005.10:g.142600752C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr76Pro	rs565742349	missense variant	-	NC_000005.10:g.142600749T>G	1000Genomes,ExAC
FGF1	P05230	p.Gly77Ser	rs375407078	missense variant	-	NC_000005.10:g.142600746C>T	ESP,TOPMed,gnomAD
FGF1	P05230	p.Gln78His	rs886552961	missense variant	-	NC_000005.10:g.142600741C>A	TOPMed
FGF1	P05230	p.Gln78Arg	rs200708364	missense variant	-	NC_000005.10:g.142600742T>C	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78Leu	rs200708364	missense variant	-	NC_000005.10:g.142600742T>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu80Ser	rs757163595	missense variant	-	NC_000005.10:g.142600736A>G	ExAC,gnomAD
FGF1	P05230	p.Thr84Ser	rs1192531296	missense variant	-	NC_000005.10:g.142600724G>C	gnomAD
FGF1	P05230	p.Asp85Asn	rs1488617074	missense variant	-	NC_000005.10:g.142600722C>T	TOPMed,gnomAD
FGF1	P05230	p.Gly86Arg	rs767694313	missense variant	-	NC_000005.10:g.142600719C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Tyr89Phe	rs774373472	missense variant	-	NC_000005.10:g.142600709T>A	ExAC,gnomAD
FGF1	P05230	p.Tyr89Cys	rs774373472	missense variant	-	NC_000005.10:g.142600709T>C	ExAC,gnomAD
FGF1	P05230	p.Gly90Ser	rs762894941	missense variant	-	NC_000005.10:g.142600707C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly90Asp	rs773757340	missense variant	-	NC_000005.10:g.142600706C>T	ExAC,gnomAD
FGF1	P05230	p.Gln92Arg	rs1174301824	missense variant	-	NC_000005.10:g.142595483T>C	gnomAD
FGF1	P05230	p.Arg103Ser	rs778584449	missense variant	-	NC_000005.10:g.142595449C>G	ExAC,gnomAD
FGF1	P05230	p.Glu105Lys	rs1254681607	missense variant	-	NC_000005.10:g.142595445C>T	gnomAD
FGF1	P05230	p.Glu106Lys	rs1202711739	missense variant	-	NC_000005.10:g.142595442C>T	TOPMed,gnomAD
FGF1	P05230	p.His108Asp	rs770501980	missense variant	-	NC_000005.10:g.142595436G>C	ExAC,gnomAD
FGF1	P05230	p.Ile113Val	rs561960626	missense variant	-	NC_000005.10:g.142595421T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ile113Thr	rs1271039014	missense variant	-	NC_000005.10:g.142595420A>G	gnomAD
FGF1	P05230	p.Lys115Thr	rs1244139413	missense variant	-	NC_000005.10:g.142595414T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys116Asn	rs1338842264	missense variant	-	NC_000005.10:g.142595410C>G	gnomAD
FGF1	P05230	p.His117Gln	rs1357397469	missense variant	-	NC_000005.10:g.142595407A>T	gnomAD
FGF1	P05230	p.Ala118Pro	rs369740938	missense variant	-	NC_000005.10:g.142595406C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala118Val	rs1415333814	missense variant	-	NC_000005.10:g.142595405G>A	gnomAD
FGF1	P05230	p.Glu119Lys	rs1305923663	missense variant	-	NC_000005.10:g.142595403C>T	gnomAD
FGF1	P05230	p.Trp122Cys	rs780390744	missense variant	-	NC_000005.10:g.142595392C>A	ExAC,gnomAD
FGF1	P05230	p.Gly125Asp	rs902995255	missense variant	-	NC_000005.10:g.142595384C>T	TOPMed
FGF1	P05230	p.Lys127Arg	rs1190163641	missense variant	-	NC_000005.10:g.142595378T>C	gnomAD
FGF1	P05230	p.Ser131Asn	rs765303323	missense variant	-	NC_000005.10:g.142595366C>T	ExAC,gnomAD
FGF1	P05230	p.Cys132Gly	rs761839384	missense variant	-	NC_000005.10:g.142595364A>C	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Cys132Phe	rs1222942974	missense variant	-	NC_000005.10:g.142595363C>A	TOPMed
FGF1	P05230	p.Lys133Glu	rs754388820	missense variant	-	NC_000005.10:g.142595361T>C	ExAC,gnomAD
FGF1	P05230	p.Arg134Cys	rs764484123	missense variant	-	NC_000005.10:g.142595358G>A	ExAC,gnomAD
FGF1	P05230	p.Arg134Pro	rs145843967	missense variant	-	NC_000005.10:g.142595357C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134His	rs145843967	missense variant	-	NC_000005.10:g.142595357C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly135Ser	rs759270544	missense variant	-	NC_000005.10:g.142595355C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Pro136Ser	rs774109079	missense variant	-	NC_000005.10:g.142595352G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Trp	rs770590235	missense variant	-	NC_000005.10:g.142595349G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Gln	rs146745580	missense variant	-	NC_000005.10:g.142595348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Val	rs769616526	missense variant	-	NC_000005.10:g.142595325T>C	ExAC,gnomAD
FGF1	P05230	p.Ile145Thr	rs748034939	missense variant	-	NC_000005.10:g.142595324A>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Asn	rs748034939	missense variant	-	NC_000005.10:g.142595324A>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu146Phe	rs780860378	missense variant	-	NC_000005.10:g.142595320C>A	ExAC
FGF1	P05230	p.Phe147Leu	rs754699487	missense variant	-	NC_000005.10:g.142595319A>G	ExAC,gnomAD
FGF1	P05230	p.Leu148Pro	rs201277854	missense variant	-	NC_000005.10:g.142595315A>G	ExAC,gnomAD
FGF1	P05230	p.Pro149Leu	rs757372975	missense variant	-	NC_000005.10:g.142595312G>A	ExAC,gnomAD
FGF1	P05230	p.Leu150Met	rs764725960	missense variant	-	NC_000005.10:g.142595310G>T	ExAC,gnomAD
FGF1	P05230	p.Val152Ile	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>T	TOPMed,gnomAD
FGF1	P05230	p.Val152Leu	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>G	TOPMed,gnomAD
FGF1	P05230	p.Asp155Glu	rs1450056118	missense variant	-	NC_000005.10:g.142595293A>T	gnomAD
FGF1	P05230	p.Ala2Gly	rs552755699	missense variant	-	NC_000005.10:g.142614123G>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ala2Thr	rs758882195	missense variant	-	NC_000005.10:g.142614124C>T	ExAC,gnomAD
FGF1	P05230	p.Thr7Ile	rs138110926	missense variant	-	NC_000005.10:g.142614108G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala11Val	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>A	gnomAD
FGF1	P05230	p.Ala11Asp	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>T	gnomAD
FGF1	P05230	p.Leu12Pro	rs1403446036	missense variant	-	NC_000005.10:g.142614093A>G	gnomAD
FGF1	P05230	p.Thr13Ile	rs375379946	missense variant	-	NC_000005.10:g.142614090G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr13Asn	rs375379946	missense variant	-	NC_000005.10:g.142614090G>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Gln	rs529994538	missense variant	-	NC_000005.10:g.142614088C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Lys	rs529994538	missense variant	-	NC_000005.10:g.142614088C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys15Thr	rs997547008	missense variant	-	NC_000005.10:g.142614084T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys15Glu	rs1425477789	missense variant	-	NC_000005.10:g.142614085T>C	TOPMed
FGF1	P05230	p.Pro19Leu	rs1174067481	missense variant	-	NC_000005.10:g.142614072G>A	TOPMed
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	UniProt,dbSNP
FGF1	P05230	p.Gly21Glu	VAR_021357	missense variant	-	NC_000005.10:g.142614066C>T	UniProt
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys25Asn	rs770703997	missense variant	-	NC_000005.10:g.142614053C>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu28His	rs1368636111	missense variant	-	NC_000005.10:g.142614045A>T	TOPMed
FGF1	P05230	p.Leu29Ile	rs1004435823	missense variant	-	NC_000005.10:g.142614043G>T	TOPMed
FGF1	P05230	p.Cys31Trp	rs781436637	missense variant	-	NC_000005.10:g.142614035A>C	ExAC,gnomAD
FGF1	P05230	p.Cys31Arg	rs748324402	missense variant	-	NC_000005.10:g.142614037A>G	ExAC,gnomAD
FGF1	P05230	p.Cys31Tyr	rs1281851920	missense variant	-	NC_000005.10:g.142614036C>T	TOPMed
FGF1	P05230	p.Ser32Ile	rs1323281277	missense variant	-	NC_000005.10:g.142614033C>A	TOPMed
FGF1	P05230	p.Ser32Gly	rs557322408	missense variant	-	NC_000005.10:g.142614034T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Gly34Arg	rs780745181	missense variant	-	NC_000005.10:g.142614028C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly35Val	rs1434024570	missense variant	-	NC_000005.10:g.142614024C>A	gnomAD
FGF1	P05230	p.His36Tyr	rs758967005	missense variant	-	NC_000005.10:g.142614022G>A	ExAC,gnomAD
FGF1	P05230	p.Phe37Leu	rs1323743663	missense variant	-	NC_000005.10:g.142614019A>G	gnomAD
FGF1	P05230	p.Leu41Arg	rs779156328	missense variant	-	NC_000005.10:g.142614006A>C	ExAC,gnomAD
FGF1	P05230	p.Pro42Leu	rs770103681	missense variant	-	NC_000005.10:g.142614003G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp43Gly	rs763784465	missense variant	-	NC_000005.10:g.142614000T>C	ExAC,gnomAD
FGF1	P05230	p.Gly44Asp	rs760222333	missense variant	-	NC_000005.10:g.142613997C>T	ExAC,gnomAD
FGF1	P05230	p.Asp47Gly	rs1490756504	missense variant	-	NC_000005.10:g.142613988T>C	TOPMed
FGF1	P05230	p.Asp47His	rs752202262	missense variant	-	NC_000005.10:g.142613989C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly48Ala	rs767502862	missense variant	-	NC_000005.10:g.142613985C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg52Lys	rs1222529936	missense variant	-	NC_000005.10:g.142613973C>T	gnomAD
FGF1	P05230	p.Asp54Glu	rs770662903	missense variant	-	NC_000005.10:g.142613966G>T	ExAC,gnomAD
FGF1	P05230	p.Asp54Asn	rs200931712	missense variant	-	NC_000005.10:g.142613968C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu59Pro	rs1397972024	missense variant	-	NC_000005.10:g.142600799A>G	gnomAD
FGF1	P05230	p.Gln60Ter	rs968262011	stop gained	-	NC_000005.10:g.142600797G>A	TOPMed
FGF1	P05230	p.Leu61Phe	rs1218989496	missense variant	-	NC_000005.10:g.142600794G>A	TOPMed
FGF1	P05230	p.Ala63Val	rs775873647	missense variant	-	NC_000005.10:g.142600787G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Val66Met	rs774480739	missense variant	-	NC_000005.10:g.142600779C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>A	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>G	ExAC,gnomAD
FGF1	P05230	p.Glu68Lys	rs749809722	missense variant	-	NC_000005.10:g.142600773C>T	ExAC,gnomAD
FGF1	P05230	p.Val69Leu	rs1415742259	missense variant	-	NC_000005.10:g.142600770C>A	TOPMed
FGF1	P05230	p.Ile71Arg	rs1318889609	missense variant	-	NC_000005.10:g.142600763A>C	TOPMed,gnomAD
FGF1	P05230	p.Ser73Asn	rs141211666	missense variant	-	NC_000005.10:g.142600757C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr74Ile	rs768468212	missense variant	-	NC_000005.10:g.142600754G>A	ExAC,gnomAD
FGF1	P05230	p.Glu75Gln	rs148224095	missense variant	-	NC_000005.10:g.142600752C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu75Lys	rs148224095	missense variant	-	NC_000005.10:g.142600752C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr76Pro	rs565742349	missense variant	-	NC_000005.10:g.142600749T>G	1000Genomes,ExAC
FGF1	P05230	p.Gly77Ser	rs375407078	missense variant	-	NC_000005.10:g.142600746C>T	ESP,TOPMed,gnomAD
FGF1	P05230	p.Gln78Leu	rs200708364	missense variant	-	NC_000005.10:g.142600742T>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78Arg	rs200708364	missense variant	-	NC_000005.10:g.142600742T>C	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78His	rs886552961	missense variant	-	NC_000005.10:g.142600741C>A	TOPMed
FGF1	P05230	p.Leu80Ser	rs757163595	missense variant	-	NC_000005.10:g.142600736A>G	ExAC,gnomAD
FGF1	P05230	p.Thr84Ser	rs1192531296	missense variant	-	NC_000005.10:g.142600724G>C	gnomAD
FGF1	P05230	p.Asp85Asn	rs1488617074	missense variant	-	NC_000005.10:g.142600722C>T	TOPMed,gnomAD
FGF1	P05230	p.Gly86Arg	rs767694313	missense variant	-	NC_000005.10:g.142600719C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Tyr89Cys	rs774373472	missense variant	-	NC_000005.10:g.142600709T>C	ExAC,gnomAD
FGF1	P05230	p.Tyr89Phe	rs774373472	missense variant	-	NC_000005.10:g.142600709T>A	ExAC,gnomAD
FGF1	P05230	p.Gly90Ser	rs762894941	missense variant	-	NC_000005.10:g.142600707C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly90Asp	rs773757340	missense variant	-	NC_000005.10:g.142600706C>T	ExAC,gnomAD
FGF1	P05230	p.Gln92Arg	rs1174301824	missense variant	-	NC_000005.10:g.142595483T>C	gnomAD
FGF1	P05230	p.Arg103Ser	rs778584449	missense variant	-	NC_000005.10:g.142595449C>G	ExAC,gnomAD
FGF1	P05230	p.Glu105Lys	rs1254681607	missense variant	-	NC_000005.10:g.142595445C>T	gnomAD
FGF1	P05230	p.Glu106Lys	rs1202711739	missense variant	-	NC_000005.10:g.142595442C>T	TOPMed,gnomAD
FGF1	P05230	p.His108Asp	rs770501980	missense variant	-	NC_000005.10:g.142595436G>C	ExAC,gnomAD
FGF1	P05230	p.Ile113Val	rs561960626	missense variant	-	NC_000005.10:g.142595421T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ile113Thr	rs1271039014	missense variant	-	NC_000005.10:g.142595420A>G	gnomAD
FGF1	P05230	p.Lys115Thr	rs1244139413	missense variant	-	NC_000005.10:g.142595414T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys116Asn	rs1338842264	missense variant	-	NC_000005.10:g.142595410C>G	gnomAD
FGF1	P05230	p.His117Gln	rs1357397469	missense variant	-	NC_000005.10:g.142595407A>T	gnomAD
FGF1	P05230	p.Ala118Pro	rs369740938	missense variant	-	NC_000005.10:g.142595406C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala118Val	rs1415333814	missense variant	-	NC_000005.10:g.142595405G>A	gnomAD
FGF1	P05230	p.Glu119Lys	rs1305923663	missense variant	-	NC_000005.10:g.142595403C>T	gnomAD
FGF1	P05230	p.Trp122Cys	rs780390744	missense variant	-	NC_000005.10:g.142595392C>A	ExAC,gnomAD
FGF1	P05230	p.Gly125Asp	rs902995255	missense variant	-	NC_000005.10:g.142595384C>T	TOPMed
FGF1	P05230	p.Lys127Arg	rs1190163641	missense variant	-	NC_000005.10:g.142595378T>C	gnomAD
FGF1	P05230	p.Ser131Asn	rs765303323	missense variant	-	NC_000005.10:g.142595366C>T	ExAC,gnomAD
FGF1	P05230	p.Cys132Gly	rs761839384	missense variant	-	NC_000005.10:g.142595364A>C	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Cys132Phe	rs1222942974	missense variant	-	NC_000005.10:g.142595363C>A	TOPMed
FGF1	P05230	p.Lys133Glu	rs754388820	missense variant	-	NC_000005.10:g.142595361T>C	ExAC,gnomAD
FGF1	P05230	p.Arg134Cys	rs764484123	missense variant	-	NC_000005.10:g.142595358G>A	ExAC,gnomAD
FGF1	P05230	p.Arg134Pro	rs145843967	missense variant	-	NC_000005.10:g.142595357C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134His	rs145843967	missense variant	-	NC_000005.10:g.142595357C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly135Ser	rs759270544	missense variant	-	NC_000005.10:g.142595355C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Pro136Ser	rs774109079	missense variant	-	NC_000005.10:g.142595352G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Trp	rs770590235	missense variant	-	NC_000005.10:g.142595349G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Gln	rs146745580	missense variant	-	NC_000005.10:g.142595348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Val	rs769616526	missense variant	-	NC_000005.10:g.142595325T>C	ExAC,gnomAD
FGF1	P05230	p.Ile145Thr	rs748034939	missense variant	-	NC_000005.10:g.142595324A>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Asn	rs748034939	missense variant	-	NC_000005.10:g.142595324A>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu146Phe	rs780860378	missense variant	-	NC_000005.10:g.142595320C>A	ExAC
FGF1	P05230	p.Phe147Leu	rs754699487	missense variant	-	NC_000005.10:g.142595319A>G	ExAC,gnomAD
FGF1	P05230	p.Leu148Pro	rs201277854	missense variant	-	NC_000005.10:g.142595315A>G	ExAC,gnomAD
FGF1	P05230	p.Pro149Leu	rs757372975	missense variant	-	NC_000005.10:g.142595312G>A	ExAC,gnomAD
FGF1	P05230	p.Leu150Met	rs764725960	missense variant	-	NC_000005.10:g.142595310G>T	ExAC,gnomAD
FGF1	P05230	p.Val152Ile	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>T	TOPMed,gnomAD
FGF1	P05230	p.Val152Leu	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>G	TOPMed,gnomAD
FGF1	P05230	p.Asp155Glu	rs1450056118	missense variant	-	NC_000005.10:g.142595293A>T	gnomAD
FGF1	P05230	p.Ala2Thr	rs758882195	missense variant	-	NC_000005.10:g.142614124C>T	ExAC,gnomAD
FGF1	P05230	p.Ala2Gly	rs552755699	missense variant	-	NC_000005.10:g.142614123G>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Thr7Ile	rs138110926	missense variant	-	NC_000005.10:g.142614108G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ala11Val	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>A	gnomAD
FGF1	P05230	p.Ala11Asp	rs1302333841	missense variant	-	NC_000005.10:g.142614096G>T	gnomAD
FGF1	P05230	p.Leu12Pro	rs1403446036	missense variant	-	NC_000005.10:g.142614093A>G	gnomAD
FGF1	P05230	p.Thr13Asn	rs375379946	missense variant	-	NC_000005.10:g.142614090G>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr13Ile	rs375379946	missense variant	-	NC_000005.10:g.142614090G>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Gln	rs529994538	missense variant	-	NC_000005.10:g.142614088C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu14Lys	rs529994538	missense variant	-	NC_000005.10:g.142614088C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys15Thr	rs997547008	missense variant	-	NC_000005.10:g.142614084T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys15Glu	rs1425477789	missense variant	-	NC_000005.10:g.142614085T>C	TOPMed
FGF1	P05230	p.Pro19Leu	rs1174067481	missense variant	-	NC_000005.10:g.142614072G>A	TOPMed
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Glu	rs17223632	missense variant	-	NC_000005.10:g.142614066C>T	UniProt,dbSNP
FGF1	P05230	p.Gly21Glu	VAR_021357	missense variant	-	NC_000005.10:g.142614066C>T	UniProt
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly21Arg	rs745732625	missense variant	-	NC_000005.10:g.142614067C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Lys25Asn	rs770703997	missense variant	-	NC_000005.10:g.142614053C>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu28His	rs1368636111	missense variant	-	NC_000005.10:g.142614045A>T	TOPMed
FGF1	P05230	p.Leu29Ile	rs1004435823	missense variant	-	NC_000005.10:g.142614043G>T	TOPMed
FGF1	P05230	p.Cys31Trp	rs781436637	missense variant	-	NC_000005.10:g.142614035A>C	ExAC,gnomAD
FGF1	P05230	p.Cys31Tyr	rs1281851920	missense variant	-	NC_000005.10:g.142614036C>T	TOPMed
FGF1	P05230	p.Cys31Arg	rs748324402	missense variant	-	NC_000005.10:g.142614037A>G	ExAC,gnomAD
FGF1	P05230	p.Ser32Ile	rs1323281277	missense variant	-	NC_000005.10:g.142614033C>A	TOPMed
FGF1	P05230	p.Ser32Gly	rs557322408	missense variant	-	NC_000005.10:g.142614034T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Gly34Arg	rs780745181	missense variant	-	NC_000005.10:g.142614028C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly35Val	rs1434024570	missense variant	-	NC_000005.10:g.142614024C>A	gnomAD
FGF1	P05230	p.His36Tyr	rs758967005	missense variant	-	NC_000005.10:g.142614022G>A	ExAC,gnomAD
FGF1	P05230	p.Phe37Leu	rs1323743663	missense variant	-	NC_000005.10:g.142614019A>G	gnomAD
FGF1	P05230	p.Leu41Arg	rs779156328	missense variant	-	NC_000005.10:g.142614006A>C	ExAC,gnomAD
FGF1	P05230	p.Pro42Leu	rs770103681	missense variant	-	NC_000005.10:g.142614003G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp43Gly	rs763784465	missense variant	-	NC_000005.10:g.142614000T>C	ExAC,gnomAD
FGF1	P05230	p.Gly44Asp	rs760222333	missense variant	-	NC_000005.10:g.142613997C>T	ExAC,gnomAD
FGF1	P05230	p.Asp47His	rs752202262	missense variant	-	NC_000005.10:g.142613989C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Asp47Gly	rs1490756504	missense variant	-	NC_000005.10:g.142613988T>C	TOPMed
FGF1	P05230	p.Gly48Ala	rs767502862	missense variant	-	NC_000005.10:g.142613985C>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg52Lys	rs1222529936	missense variant	-	NC_000005.10:g.142613973C>T	gnomAD
FGF1	P05230	p.Asp54Glu	rs770662903	missense variant	-	NC_000005.10:g.142613966G>T	ExAC,gnomAD
FGF1	P05230	p.Asp54Asn	rs200931712	missense variant	-	NC_000005.10:g.142613968C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu59Pro	rs1397972024	missense variant	-	NC_000005.10:g.142600799A>G	gnomAD
FGF1	P05230	p.Gln60Ter	rs968262011	stop gained	-	NC_000005.10:g.142600797G>A	TOPMed
FGF1	P05230	p.Leu61Phe	rs1218989496	missense variant	-	NC_000005.10:g.142600794G>A	TOPMed
FGF1	P05230	p.Ala63Val	rs775873647	missense variant	-	NC_000005.10:g.142600787G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Val66Met	rs774480739	missense variant	-	NC_000005.10:g.142600779C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>A	ExAC,gnomAD
FGF1	P05230	p.Glu68Asp	rs773671222	missense variant	-	NC_000005.10:g.142600771C>G	ExAC,gnomAD
FGF1	P05230	p.Glu68Lys	rs749809722	missense variant	-	NC_000005.10:g.142600773C>T	ExAC,gnomAD
FGF1	P05230	p.Val69Leu	rs1415742259	missense variant	-	NC_000005.10:g.142600770C>A	TOPMed
FGF1	P05230	p.Ile71Arg	rs1318889609	missense variant	-	NC_000005.10:g.142600763A>C	TOPMed,gnomAD
FGF1	P05230	p.Ser73Asn	rs141211666	missense variant	-	NC_000005.10:g.142600757C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr74Ile	rs768468212	missense variant	-	NC_000005.10:g.142600754G>A	ExAC,gnomAD
FGF1	P05230	p.Glu75Lys	rs148224095	missense variant	-	NC_000005.10:g.142600752C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu75Gln	rs148224095	missense variant	-	NC_000005.10:g.142600752C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Thr76Pro	rs565742349	missense variant	-	NC_000005.10:g.142600749T>G	1000Genomes,ExAC
FGF1	P05230	p.Gly77Ser	rs375407078	missense variant	-	NC_000005.10:g.142600746C>T	ESP,TOPMed,gnomAD
FGF1	P05230	p.Gln78Leu	rs200708364	missense variant	-	NC_000005.10:g.142600742T>A	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78Arg	rs200708364	missense variant	-	NC_000005.10:g.142600742T>C	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln78His	rs886552961	missense variant	-	NC_000005.10:g.142600741C>A	TOPMed
FGF1	P05230	p.Leu80Ser	rs757163595	missense variant	-	NC_000005.10:g.142600736A>G	ExAC,gnomAD
FGF1	P05230	p.Thr84Ser	rs1192531296	missense variant	-	NC_000005.10:g.142600724G>C	gnomAD
FGF1	P05230	p.Asp85Asn	rs1488617074	missense variant	-	NC_000005.10:g.142600722C>T	TOPMed,gnomAD
FGF1	P05230	p.Gly86Arg	rs767694313	missense variant	-	NC_000005.10:g.142600719C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Tyr89Cys	rs774373472	missense variant	-	NC_000005.10:g.142600709T>C	ExAC,gnomAD
FGF1	P05230	p.Tyr89Phe	rs774373472	missense variant	-	NC_000005.10:g.142600709T>A	ExAC,gnomAD
FGF1	P05230	p.Gly90Asp	rs773757340	missense variant	-	NC_000005.10:g.142600706C>T	ExAC,gnomAD
FGF1	P05230	p.Gly90Ser	rs762894941	missense variant	-	NC_000005.10:g.142600707C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gln92Arg	rs1174301824	missense variant	-	NC_000005.10:g.142595483T>C	gnomAD
FGF1	P05230	p.Arg103Ser	rs778584449	missense variant	-	NC_000005.10:g.142595449C>G	ExAC,gnomAD
FGF1	P05230	p.Glu105Lys	rs1254681607	missense variant	-	NC_000005.10:g.142595445C>T	gnomAD
FGF1	P05230	p.Glu106Lys	rs1202711739	missense variant	-	NC_000005.10:g.142595442C>T	TOPMed,gnomAD
FGF1	P05230	p.His108Asp	rs770501980	missense variant	-	NC_000005.10:g.142595436G>C	ExAC,gnomAD
FGF1	P05230	p.Ile113Val	rs561960626	missense variant	-	NC_000005.10:g.142595421T>C	1000Genomes,ExAC,gnomAD
FGF1	P05230	p.Ile113Thr	rs1271039014	missense variant	-	NC_000005.10:g.142595420A>G	gnomAD
FGF1	P05230	p.Lys115Thr	rs1244139413	missense variant	-	NC_000005.10:g.142595414T>G	TOPMed,gnomAD
FGF1	P05230	p.Lys116Asn	rs1338842264	missense variant	-	NC_000005.10:g.142595410C>G	gnomAD
FGF1	P05230	p.His117Gln	rs1357397469	missense variant	-	NC_000005.10:g.142595407A>T	gnomAD
FGF1	P05230	p.Ala118Val	rs1415333814	missense variant	-	NC_000005.10:g.142595405G>A	gnomAD
FGF1	P05230	p.Ala118Pro	rs369740938	missense variant	-	NC_000005.10:g.142595406C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Glu119Lys	rs1305923663	missense variant	-	NC_000005.10:g.142595403C>T	gnomAD
FGF1	P05230	p.Trp122Cys	rs780390744	missense variant	-	NC_000005.10:g.142595392C>A	ExAC,gnomAD
FGF1	P05230	p.Gly125Asp	rs902995255	missense variant	-	NC_000005.10:g.142595384C>T	TOPMed
FGF1	P05230	p.Lys127Arg	rs1190163641	missense variant	-	NC_000005.10:g.142595378T>C	gnomAD
FGF1	P05230	p.Ser131Asn	rs765303323	missense variant	-	NC_000005.10:g.142595366C>T	ExAC,gnomAD
FGF1	P05230	p.Cys132Gly	rs761839384	missense variant	-	NC_000005.10:g.142595364A>C	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Cys132Phe	rs1222942974	missense variant	-	NC_000005.10:g.142595363C>A	TOPMed
FGF1	P05230	p.Lys133Glu	rs754388820	missense variant	-	NC_000005.10:g.142595361T>C	ExAC,gnomAD
FGF1	P05230	p.Arg134Cys	rs764484123	missense variant	-	NC_000005.10:g.142595358G>A	ExAC,gnomAD
FGF1	P05230	p.Arg134His	rs145843967	missense variant	-	NC_000005.10:g.142595357C>T	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg134Pro	rs145843967	missense variant	-	NC_000005.10:g.142595357C>G	ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Gly135Ser	rs759270544	missense variant	-	NC_000005.10:g.142595355C>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Pro136Ser	rs774109079	missense variant	-	NC_000005.10:g.142595352G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Trp	rs770590235	missense variant	-	NC_000005.10:g.142595349G>A	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Arg137Gln	rs146745580	missense variant	-	NC_000005.10:g.142595348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Asn	rs748034939	missense variant	-	NC_000005.10:g.142595324A>T	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Ile145Val	rs769616526	missense variant	-	NC_000005.10:g.142595325T>C	ExAC,gnomAD
FGF1	P05230	p.Ile145Thr	rs748034939	missense variant	-	NC_000005.10:g.142595324A>G	ExAC,TOPMed,gnomAD
FGF1	P05230	p.Leu146Phe	rs780860378	missense variant	-	NC_000005.10:g.142595320C>A	ExAC
FGF1	P05230	p.Phe147Leu	rs754699487	missense variant	-	NC_000005.10:g.142595319A>G	ExAC,gnomAD
FGF1	P05230	p.Leu148Pro	rs201277854	missense variant	-	NC_000005.10:g.142595315A>G	ExAC,gnomAD
FGF1	P05230	p.Pro149Leu	rs757372975	missense variant	-	NC_000005.10:g.142595312G>A	ExAC,gnomAD
FGF1	P05230	p.Leu150Met	rs764725960	missense variant	-	NC_000005.10:g.142595310G>T	ExAC,gnomAD
FGF1	P05230	p.Val152Ile	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>T	TOPMed,gnomAD
FGF1	P05230	p.Val152Leu	rs1198361298	missense variant	-	NC_000005.10:g.142595304C>G	TOPMed,gnomAD
FGF1	P05230	p.Asp155Glu	rs1450056118	missense variant	-	NC_000005.10:g.142595293A>T	gnomAD
EDN1	P05305	p.Asp2His	rs201943749	missense variant	-	NC_000006.12:g.12290633G>C	ExAC,gnomAD
EDN1	P05305	p.Leu4Trp	COSM4923444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12290640T>G	NCI-TCGA Cosmic
EDN1	P05305	p.Ser9Cys	rs1459410291	missense variant	-	NC_000006.12:g.12290655C>G	TOPMed,gnomAD
EDN1	P05305	p.Cys15Phe	rs73722760	missense variant	-	NC_000006.12:g.12290673G>T	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Cys15Ser	rs73722760	missense variant	-	NC_000006.12:g.12290673G>C	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Cys15Trp	rs751638434	missense variant	-	NC_000006.12:g.12290674C>G	ExAC,gnomAD
EDN1	P05305	p.Gln16Leu	rs750687688	missense variant	-	NC_000006.12:g.12290676A>T	ExAC,gnomAD
EDN1	P05305	p.Gln16Lys	rs377019316	missense variant	-	NC_000006.12:g.12290675C>A	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Gln16Pro	rs750687688	missense variant	-	NC_000006.12:g.12290676A>C	ExAC,gnomAD
EDN1	P05305	p.Gly17Glu	rs755489890	missense variant	-	NC_000006.12:g.12290679G>A	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Gly17Arg	rs780635071	missense variant	-	NC_000006.12:g.12290678G>A	ExAC
EDN1	P05305	p.Gly17Ter	rs780635071	stop gained	-	NC_000006.12:g.12290678G>T	ExAC
EDN1	P05305	p.Ala18Ser	rs777308856	missense variant	-	NC_000006.12:g.12290681G>T	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Ala18Gly	rs746459355	missense variant	-	NC_000006.12:g.12290682C>G	ExAC
EDN1	P05305	p.Ala18Thr	rs777308856	missense variant	-	NC_000006.12:g.12290681G>A	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Pro19Gln	rs770493724	missense variant	-	NC_000006.12:g.12290685C>A	ExAC,TOPMed
EDN1	P05305	p.Pro19Leu	rs770493724	missense variant	-	NC_000006.12:g.12290685C>T	ExAC,TOPMed
EDN1	P05305	p.Ala22Glu	rs533813384	missense variant	-	NC_000006.12:g.12292341C>A	1000Genomes,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Val23Ile	rs780775953	missense variant	-	NC_000006.12:g.12292343G>A	TOPMed,gnomAD
EDN1	P05305	p.Ala26Ser	rs1367007262	missense variant	-	NC_000006.12:g.12292352G>T	TOPMed,gnomAD
EDN1	P05305	p.Ala26Thr	rs1367007262	missense variant	-	NC_000006.12:g.12292352G>A	TOPMed,gnomAD
EDN1	P05305	p.Ala26Thr	rs1367007262	missense variant	-	NC_000006.12:g.12292352G>A	NCI-TCGA
EDN1	P05305	p.Glu27Lys	rs553767245	missense variant	-	NC_000006.12:g.12292355G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Leu28Ile	rs754109007	missense variant	-	NC_000006.12:g.12292358C>A	NCI-TCGA
EDN1	P05305	p.Leu28Ile	rs754109007	missense variant	-	NC_000006.12:g.12292358C>A	ExAC,gnomAD
EDN1	P05305	p.Ser29Arg	rs759759347	missense variant	-	NC_000006.12:g.12292363C>G	ExAC,gnomAD
EDN1	P05305	p.Ala30Val	rs202087445	missense variant	-	NC_000006.12:g.12292365C>T	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Ala30Glu	rs202087445	missense variant	-	NC_000006.12:g.12292365C>A	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Ala30Thr	rs1479572510	missense variant	-	NC_000006.12:g.12292364G>A	gnomAD
EDN1	P05305	p.Ala30Val	rs202087445	missense variant	-	NC_000006.12:g.12292365C>T	NCI-TCGA
EDN1	P05305	p.Gly32Ser	rs749973432	missense variant	-	NC_000006.12:g.12292370G>A	ExAC,gnomAD
EDN1	P05305	p.Glu33Gly	rs1474510268	missense variant	-	NC_000006.12:g.12292374A>G	TOPMed
EDN1	P05305	p.Asn34Lys	rs1263267835	missense variant	-	NC_000006.12:g.12292378C>A	gnomAD
EDN1	P05305	p.Gly35Arg	rs755650656	missense variant	-	NC_000006.12:g.12292379G>C	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Gly35Ser	rs755650656	missense variant	-	NC_000006.12:g.12292379G>A	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Gly36Arg	rs183694577	missense variant	-	NC_000006.12:g.12292382G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Gly36Arg	rs183694577	missense variant	-	NC_000006.12:g.12292382G>C	1000Genomes,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Glu37Gly	rs778827439	missense variant	-	NC_000006.12:g.12292386A>G	ExAC,gnomAD
EDN1	P05305	p.Lys38Glu	rs748015875	missense variant	-	NC_000006.12:g.12292388A>G	ExAC,gnomAD
EDN1	P05305	p.Pro39Thr	rs772178393	missense variant	-	NC_000006.12:g.12292391C>A	ExAC,gnomAD
EDN1	P05305	p.Thr40Ala	rs1490793727	missense variant	-	NC_000006.12:g.12292394A>G	TOPMed
EDN1	P05305	p.Thr40Asn	rs149399492	missense variant	-	NC_000006.12:g.12292395C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Thr40Ile	rs149399492	missense variant	-	NC_000006.12:g.12292395C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Thr40Ser	rs149399492	missense variant	-	NC_000006.12:g.12292395C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Pro41His	rs1299418415	missense variant	-	NC_000006.12:g.12292398C>A	gnomAD
EDN1	P05305	p.Pro41Ser	rs144801601	missense variant	-	NC_000006.12:g.12292397C>T	ESP,TOPMed
EDN1	P05305	p.Ser42Cys	rs576313237	missense variant	-	NC_000006.12:g.12292400A>T	1000Genomes,ExAC,gnomAD
EDN1	P05305	p.Ser42Arg	rs576313237	missense variant	-	NC_000006.12:g.12292400A>C	1000Genomes,ExAC,gnomAD
EDN1	P05305	p.Ser42Gly	COSM3857974	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12292400A>G	NCI-TCGA Cosmic
EDN1	P05305	p.Pro44Ser	rs370873027	missense variant	-	NC_000006.12:g.12292406C>T	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Pro44Leu	rs1193581265	missense variant	-	NC_000006.12:g.12292407C>T	TOPMed
EDN1	P05305	p.Arg46Pro	rs1383893344	missense variant	-	NC_000006.12:g.12292413G>C	TOPMed,gnomAD
EDN1	P05305	p.Arg46Trp	rs200759992	missense variant	-	NC_000006.12:g.12292412C>T	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Arg48Leu	rs368802545	missense variant	-	NC_000006.12:g.12292419G>T	ESP,ExAC,gnomAD
EDN1	P05305	p.Arg48His	rs368802545	missense variant	-	NC_000006.12:g.12292419G>A	ESP,ExAC,gnomAD
EDN1	P05305	p.Arg48Cys	rs1239711154	missense variant	-	NC_000006.12:g.12292418C>T	gnomAD
EDN1	P05305	p.Ser50Phe	rs372723252	missense variant	-	NC_000006.12:g.12292425C>T	ESP,ExAC,gnomAD
EDN1	P05305	p.Ser54Pro	rs1284924294	missense variant	-	NC_000006.12:g.12292436T>C	gnomAD
EDN1	P05305	p.Ser56Trp	rs573471977	missense variant	-	NC_000006.12:g.12292443C>G	TOPMed,gnomAD
EDN1	P05305	p.Ser56Ter	rs573471977	stop gained	-	NC_000006.12:g.12292443C>A	TOPMed,gnomAD
EDN1	P05305	p.Leu58Met	rs754711482	missense variant	-	NC_000006.12:g.12292448C>A	ExAC,gnomAD
EDN1	P05305	p.Glu62Gln	RCV000723296	missense variant	Question mark ears, isolated (QME)	NC_000006.12:g.12292460G>C	ClinVar
EDN1	P05305	p.Cys63Tyr	rs1064796796	missense variant	-	NC_000006.12:g.12292464G>A	-
EDN1	P05305	p.Cys63Tyr	RCV000483261	missense variant	-	NC_000006.12:g.12292464G>A	ClinVar
EDN1	P05305	p.Val64Asp	RCV000106314	missense variant	Question mark ears, isolated (QME)	NC_000006.12:g.12292467T>A	ClinVar
EDN1	P05305	p.Val64Asp	rs587777233	missense variant	-	NC_000006.12:g.12292467T>A	-
EDN1	P05305	p.Val64Asp	rs587777233	missense variant	Question mark ears, isolated (QME)	NC_000006.12:g.12292467T>A	UniProt,dbSNP
EDN1	P05305	p.Val64Asp	VAR_071152	missense variant	Question mark ears, isolated (QME)	NC_000006.12:g.12292467T>A	UniProt
EDN1	P05305	p.Tyr65LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.12292467_12292468TC>-	NCI-TCGA
EDN1	P05305	p.Tyr65Cys	COSM3620075	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12292470A>G	NCI-TCGA Cosmic
EDN1	P05305	p.Ile71Val	rs777792460	missense variant	-	NC_000006.12:g.12292487A>G	ExAC,gnomAD
EDN1	P05305	p.Trp73Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.12292495G>A	NCI-TCGA
EDN1	P05305	p.Val74Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.12292497T>G	NCI-TCGA
EDN1	P05305	p.Asn75Lys	rs565425223	missense variant	-	NC_000006.12:g.12292501C>G	1000Genomes,ExAC,gnomAD
EDN1	P05305	p.Asn75Ser	rs746943183	missense variant	-	NC_000006.12:g.12292500A>G	ExAC,gnomAD
EDN1	P05305	p.Asn75Tyr	rs912386275	missense variant	-	NC_000006.12:g.12292499A>T	TOPMed
EDN1	P05305	p.Thr76Asn	rs776827646	missense variant	-	NC_000006.12:g.12292503C>A	ExAC,gnomAD
EDN1	P05305	p.Pro77His	rs587777232	missense variant	-	NC_000006.12:g.12292506C>A	-
EDN1	P05305	p.Pro77His	rs587777232	missense variant	Auriculocondylar syndrome 3 (ARCND3)	NC_000006.12:g.12292506C>A	UniProt,dbSNP
EDN1	P05305	p.Pro77His	VAR_071153	missense variant	Auriculocondylar syndrome 3 (ARCND3)	NC_000006.12:g.12292506C>A	UniProt
EDN1	P05305	p.Pro77His	RCV000106313	missense variant	Auriculocondylar syndrome 3 (ARCND3)	NC_000006.12:g.12292506C>A	ClinVar
EDN1	P05305	p.Glu78Gln	rs1446318735	missense variant	-	NC_000006.12:g.12292508G>C	gnomAD
EDN1	P05305	p.Glu78Gly	rs770093045	missense variant	-	NC_000006.12:g.12292509A>G	ExAC,gnomAD
EDN1	P05305	p.His79Tyr	rs774749384	missense variant	-	NC_000006.12:g.12293942C>T	ExAC,gnomAD
EDN1	P05305	p.His79Arg	rs144271441	missense variant	-	NC_000006.12:g.12293943A>G	ESP
EDN1	P05305	p.Val80Ile	rs147381256	missense variant	-	NC_000006.12:g.12293945G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Val80Asp	rs1191532177	missense variant	-	NC_000006.12:g.12293946T>A	gnomAD
EDN1	P05305	p.Pro82Leu	rs139407538	missense variant	-	NC_000006.12:g.12293952C>T	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Tyr83Ter	rs587777234	stop gained	-	NC_000006.12:g.12293956T>G	-
EDN1	P05305	p.Tyr83Ter	RCV000106315	nonsense	Question mark ears, isolated (QME)	NC_000006.12:g.12293956T>G	ClinVar
EDN1	P05305	p.Gly84Arg	COSM3620076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12293957G>A	NCI-TCGA Cosmic
EDN1	P05305	p.Gly86Glu	COSM3920664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12293964G>A	NCI-TCGA Cosmic
EDN1	P05305	p.Pro88Ser	rs1401223395	missense variant	-	NC_000006.12:g.12293969C>T	gnomAD
EDN1	P05305	p.Arg89Lys	rs752388910	missense variant	-	NC_000006.12:g.12293973G>A	ExAC,gnomAD
EDN1	P05305	p.Ser90Tyr	rs762749838	missense variant	-	NC_000006.12:g.12293976C>A	ExAC,gnomAD
EDN1	P05305	p.Lys91Glu	RCV000106312	missense variant	Auriculocondylar syndrome 3 (ARCND3)	NC_000006.12:g.12293978A>G	ClinVar
EDN1	P05305	p.Lys91Glu	rs587777231	missense variant	-	NC_000006.12:g.12293978A>G	-
EDN1	P05305	p.Lys91Glu	rs587777231	missense variant	Auriculocondylar syndrome 3 (ARCND3)	NC_000006.12:g.12293978A>G	UniProt,dbSNP
EDN1	P05305	p.Lys91Glu	VAR_071154	missense variant	Auriculocondylar syndrome 3 (ARCND3)	NC_000006.12:g.12293978A>G	UniProt
EDN1	P05305	p.Ala93Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.12293984G>T	NCI-TCGA
EDN1	P05305	p.Ala93Thr	rs763955920	missense variant	-	NC_000006.12:g.12293984G>A	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Ala93Val	COSM1072808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12293985C>T	NCI-TCGA Cosmic
EDN1	P05305	p.Glu95Gln	rs751438470	missense variant	-	NC_000006.12:g.12293990G>C	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Glu95Lys	rs751438470	missense variant	-	NC_000006.12:g.12293990G>A	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Glu95Asp	COSM1072809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12293992G>T	NCI-TCGA Cosmic
EDN1	P05305	p.Leu98His	rs757031803	missense variant	-	NC_000006.12:g.12294000T>A	ExAC,gnomAD
EDN1	P05305	p.Ala102Thr	rs1273930303	missense variant	-	NC_000006.12:g.12294011G>A	gnomAD
EDN1	P05305	p.Thr103Ala	rs750339407	missense variant	-	NC_000006.12:g.12294014A>G	ExAC,gnomAD
EDN1	P05305	p.Thr103Arg	rs551874067	missense variant	-	NC_000006.12:g.12294015C>G	ExAC,gnomAD
EDN1	P05305	p.Thr103Lys	rs551874067	missense variant	-	NC_000006.12:g.12294015C>A	ExAC,gnomAD
EDN1	P05305	p.Arg105Cys	rs369379949	missense variant	-	NC_000006.12:g.12294020C>T	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Arg105Leu	rs140854546	missense variant	-	NC_000006.12:g.12294021G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Arg105His	rs140854546	missense variant	-	NC_000006.12:g.12294021G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Glu106Gly	rs1255912131	missense variant	-	NC_000006.12:g.12294024A>G	TOPMed
EDN1	P05305	p.Glu106Lys	rs779139823	missense variant	-	NC_000006.12:g.12294023G>A	ExAC,gnomAD
EDN1	P05305	p.Arg108Gly	rs917166185	missense variant	-	NC_000006.12:g.12294029A>G	NCI-TCGA Cosmic
EDN1	P05305	p.Arg108Gly	rs917166185	missense variant	-	NC_000006.12:g.12294029A>G	gnomAD
EDN1	P05305	p.Arg108Thr	COSM1072812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12294030G>C	NCI-TCGA Cosmic
EDN1	P05305	p.Ala112Ser	rs1175229600	missense variant	-	NC_000006.12:g.12294041G>T	TOPMed,gnomAD
EDN1	P05305	p.Ala112Thr	rs1175229600	missense variant	-	NC_000006.12:g.12294041G>A	TOPMed,gnomAD
EDN1	P05305	p.Ser113Gly	rs1385040497	missense variant	-	NC_000006.12:g.12294044A>G	TOPMed
EDN1	P05305	p.Asp116Asn	rs761581288	missense variant	-	NC_000006.12:g.12294053G>A	NCI-TCGA,NCI-TCGA Cosmic
EDN1	P05305	p.Asp116Asn	rs761581288	missense variant	-	NC_000006.12:g.12294053G>A	TOPMed,gnomAD
EDN1	P05305	p.Asp116Tyr	COSM450426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12294053G>T	NCI-TCGA Cosmic
EDN1	P05305	p.Lys117Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.12294058G>C	NCI-TCGA
EDN1	P05305	p.Lys118Asn	rs150128166	missense variant	-	NC_000006.12:g.12294061G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Lys118Arg	rs769329570	missense variant	-	NC_000006.12:g.12294060A>G	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Cys119Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.12294062T>C	NCI-TCGA
EDN1	P05305	p.Trp120Ter	COSM3620078	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.12294067G>A	NCI-TCGA Cosmic
EDN1	P05305	p.Cys123AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.12294070T>-	NCI-TCGA
EDN1	P05305	p.Ala125Thr	rs762660018	missense variant	-	NC_000006.12:g.12294080G>A	ExAC,gnomAD
EDN1	P05305	p.Gly126Ala	rs1438183776	missense variant	-	NC_000006.12:g.12294084G>C	gnomAD
EDN1	P05305	p.Lys127Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.12294086A>C	NCI-TCGA
EDN1	P05305	p.Glu128Gln	rs1041556753	missense variant	-	NC_000006.12:g.12294089G>C	TOPMed,gnomAD
EDN1	P05305	p.Glu128Lys	COSM3620079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12294089G>A	NCI-TCGA Cosmic
EDN1	P05305	p.Asp133Val	rs1365426094	missense variant	-	NC_000006.12:g.12294269A>T	gnomAD
EDN1	P05305	p.Ile134Ser	rs779053288	missense variant	-	NC_000006.12:g.12294272T>G	ExAC,gnomAD
EDN1	P05305	p.Met135Thr	rs568430735	missense variant	-	NC_000006.12:g.12294275T>C	1000Genomes,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Met135Val	rs748326404	missense variant	-	NC_000006.12:g.12294274A>G	ExAC,gnomAD
EDN1	P05305	p.Met135Ile	rs1326240684	missense variant	-	NC_000006.12:g.12294276G>C	gnomAD
EDN1	P05305	p.Glu136Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.12294277G>T	NCI-TCGA
EDN1	P05305	p.Asp138Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.12294283G>T	NCI-TCGA
EDN1	P05305	p.Asp138His	rs1376601768	missense variant	-	NC_000006.12:g.12294283G>C	TOPMed,gnomAD
EDN1	P05305	p.Lys143Glu	rs778052405	missense variant	-	NC_000006.12:g.12294298A>G	ExAC,gnomAD
EDN1	P05305	p.Lys144Glu	rs149750515	missense variant	-	NC_000006.12:g.12294301A>G	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Lys146Glu	COSM4911945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12294307A>G	NCI-TCGA Cosmic
EDN1	P05305	p.Cys148Tyr	rs771602064	missense variant	-	NC_000006.12:g.12294314G>A	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Cys148Ser	rs771602064	missense variant	-	NC_000006.12:g.12294314G>C	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Ser149Tyr	rs777308039	missense variant	-	NC_000006.12:g.12294317C>A	ExAC,gnomAD
EDN1	P05305	p.Ser149Tyr	rs777308039	missense variant	-	NC_000006.12:g.12294317C>A	NCI-TCGA,NCI-TCGA Cosmic
EDN1	P05305	p.Leu151Phe	rs1178209473	missense variant	-	NC_000006.12:g.12294322C>T	TOPMed
EDN1	P05305	p.Lys153Glu	rs762501115	missense variant	-	NC_000006.12:g.12294328A>G	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Lys154SerPheSerTerUnk	COSM3171322	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.12294328A>-	NCI-TCGA Cosmic
EDN1	P05305	p.Cys155Tyr	rs768294608	missense variant	-	NC_000006.12:g.12294335G>A	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Cys155Arg	rs1198589540	missense variant	-	NC_000006.12:g.12294334T>C	TOPMed
EDN1	P05305	p.Ile156Phe	rs1176491837	missense variant	-	NC_000006.12:g.12294337A>T	gnomAD
EDN1	P05305	p.Gln158Ter	rs773985828	stop gained	-	NC_000006.12:g.12294343C>T	ExAC,gnomAD
EDN1	P05305	p.Leu160Ile	rs767323529	missense variant	-	NC_000006.12:g.12294349T>A	ExAC,gnomAD
EDN1	P05305	p.Leu160Phe	rs145546137	missense variant	-	NC_000006.12:g.12294351A>C	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Val161Ala	rs537170013	missense variant	-	NC_000006.12:g.12294353T>C	1000Genomes,ExAC,gnomAD
EDN1	P05305	p.Val161Met	rs951534547	missense variant	-	NC_000006.12:g.12294352G>A	TOPMed,gnomAD
EDN1	P05305	p.Gly163Glu	rs753790282	missense variant	-	NC_000006.12:g.12294359G>A	ExAC
EDN1	P05305	p.Gly163Arg	rs756265142	missense variant	-	NC_000006.12:g.12294358G>A	TOPMed,gnomAD
EDN1	P05305	p.Lys165SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.12294362_12294363insGAGTTCAGGAGGCTGTT	NCI-TCGA
EDN1	P05305	p.Ile166Thr	rs983858211	missense variant	-	NC_000006.12:g.12294368T>C	gnomAD
EDN1	P05305	p.Arg167Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.12294372A>T	NCI-TCGA
EDN1	P05305	p.Arg168Ser	rs754988566	missense variant	-	NC_000006.12:g.12294375A>C	ExAC
EDN1	P05305	p.Ser169Cys	rs1420659324	missense variant	-	NC_000006.12:g.12294376A>T	gnomAD
EDN1	P05305	p.Glu172Asp	rs1342307965	missense variant	-	NC_000006.12:g.12294387A>T	gnomAD
EDN1	P05305	p.Glu172Gly	rs765372578	missense variant	-	NC_000006.12:g.12294386A>G	ExAC,TOPMed,gnomAD
EDN1	P05305	p.His173Gln	rs1394694565	missense variant	-	NC_000006.12:g.12294390C>A	TOPMed
EDN1	P05305	p.His173Asn	RCV000514748	missense variant	-	NC_000006.12:g.12294388C>A	ClinVar
EDN1	P05305	p.His173Asn	rs149316725	missense variant	-	NC_000006.12:g.12294388C>A	1000Genomes,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Gln176Pro	rs1316232630	missense variant	-	NC_000006.12:g.12294398A>C	NCI-TCGA
EDN1	P05305	p.Gln176His	rs1200761474	missense variant	-	NC_000006.12:g.12294399A>C	gnomAD
EDN1	P05305	p.Gln176Pro	rs1316232630	missense variant	-	NC_000006.12:g.12294398A>C	gnomAD
EDN1	P05305	p.Thr177Ser	rs1402092062	missense variant	-	NC_000006.12:g.12294401C>G	TOPMed
EDN1	P05305	p.Ser179Thr	rs1358679492	missense variant	-	NC_000006.12:g.12295963T>A	gnomAD
EDN1	P05305	p.Ser179Leu	rs140345259	missense variant	-	NC_000006.12:g.12295964C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Glu180Asp	rs1367113386	missense variant	-	NC_000006.12:g.12295968G>T	gnomAD
EDN1	P05305	p.Thr181Asn	rs1184921074	missense variant	-	NC_000006.12:g.12295970C>A	TOPMed
EDN1	P05305	p.Met182Leu	rs772676972	missense variant	-	NC_000006.12:g.12295972A>C	ExAC,gnomAD
EDN1	P05305	p.Met182Ile	COSM3620080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12295974G>A	NCI-TCGA Cosmic
EDN1	P05305	p.Arg183Thr	rs1349873879	missense variant	-	NC_000006.12:g.12295976G>C	gnomAD
EDN1	P05305	p.Val186Ile	rs6413478	missense variant	-	NC_000006.12:g.12295984G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Val186Asp	COSM450428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12295985T>A	NCI-TCGA Cosmic
EDN1	P05305	p.Ser189Ala	rs770703131	missense variant	-	NC_000006.12:g.12295993T>G	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Phe190Leu	rs776454893	missense variant	-	NC_000006.12:g.12295998T>G	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Asp192Val	rs769575571	missense variant	-	NC_000006.12:g.12296003A>T	ExAC,gnomAD
EDN1	P05305	p.Asp192His	rs759433680	missense variant	-	NC_000006.12:g.12296002G>C	ExAC,gnomAD
EDN1	P05305	p.Asp192Gly	rs769575571	missense variant	-	NC_000006.12:g.12296003A>G	ExAC,gnomAD
EDN1	P05305	p.Asp192Asn	COSM3620081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12296002G>A	NCI-TCGA Cosmic
EDN1	P05305	p.Lys194Arg	rs113451805	missense variant	-	NC_000006.12:g.12296009A>G	gnomAD
EDN1	P05305	p.Lys194Thr	rs113451805	missense variant	-	NC_000006.12:g.12296009A>C	gnomAD
EDN1	P05305	p.Lys194Asn	COSM3857975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.12296010G>T	NCI-TCGA Cosmic
EDN1	P05305	p.Lys196Glu	rs1455015366	missense variant	-	NC_000006.12:g.12296014A>G	gnomAD
EDN1	P05305	p.Gly197Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.12296018G>A	NCI-TCGA
EDN1	P05305	p.Gly197Ala	rs146590760	missense variant	-	NC_000006.12:g.12296018G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Lys198Asn	rs5370	missense variant	-	NC_000006.12:g.12296022G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Lys198Asn	rs5370	missense variant	-	NC_000006.12:g.12296022G>T	UniProt,dbSNP
EDN1	P05305	p.Lys198Asn	VAR_014188	missense variant	-	NC_000006.12:g.12296022G>T	UniProt
EDN1	P05305	p.Lys198Arg	rs764236555	missense variant	-	NC_000006.12:g.12296021A>G	ExAC,gnomAD
EDN1	P05305	p.Lys198Asn	RCV000018132	missense variant	High density lipoprotein cholesterol level quantitative trait locus 7 (HDLCQ7)	NC_000006.12:g.12296022G>T	ClinVar
EDN1	P05305	p.Pro199Ser	rs533222953	missense variant	-	NC_000006.12:g.12296023C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Pro199Leu	rs767963465	missense variant	-	NC_000006.12:g.12296024C>T	ExAC,gnomAD
EDN1	P05305	p.Arg201Gly	rs756571269	missense variant	-	NC_000006.12:g.12296029A>G	ExAC,gnomAD
EDN1	P05305	p.Glu202Lys	rs914099869	missense variant	-	NC_000006.12:g.12296032G>A	TOPMed,gnomAD
EDN1	P05305	p.Arg203His	rs143255118	missense variant	-	NC_000006.12:g.12296036G>A	ESP,TOPMed,gnomAD
EDN1	P05305	p.Arg203Cys	rs370693989	missense variant	-	NC_000006.12:g.12296035C>T	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Tyr204Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.12296039A>T	NCI-TCGA
EDN1	P05305	p.Tyr204Cys	rs1284339791	missense variant	-	NC_000006.12:g.12296039A>G	gnomAD
EDN1	P05305	p.Arg209Gln	rs777403291	missense variant	-	NC_000006.12:g.12296054G>A	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Arg209Ter	rs202114325	stop gained	-	NC_000006.12:g.12296053C>T	ESP,ExAC,TOPMed,gnomAD
EDN1	P05305	p.Ala210Val	rs1168389266	missense variant	-	NC_000006.12:g.12296057C>T	TOPMed
EDN1	P05305	p.His211Arg	rs746637605	missense variant	-	NC_000006.12:g.12296060A>G	ExAC
EDN1	P05305	p.Trp212Cys	rs745611684	missense variant	-	NC_000006.12:g.12296064G>C	ExAC,gnomAD
EDN1	P05305	p.Trp212Arg	rs780851020	missense variant	-	NC_000006.12:g.12296062T>C	ExAC,TOPMed,gnomAD
EDN1	P05305	p.Trp212Ter	rs745611684	stop gained	-	NC_000006.12:g.12296064G>A	ExAC,gnomAD
EDN1	P05305	p.Ter213Trp	rs1422191247	stop lost	-	NC_000006.12:g.12296067A>G	gnomAD
EDN1	P05305	p.Ter213Arg	rs769642311	stop lost	-	NC_000006.12:g.12296065T>A	ExAC,gnomAD
TFAP2A	P05549	p.Thr6Met	rs1472670698	missense variant	-	NC_000006.12:g.10414969G>A	gnomAD
TFAP2A	P05549	p.Asn8Thr	rs897507137	missense variant	-	NC_000006.12:g.10414963T>G	TOPMed,gnomAD
TFAP2A	P05549	p.Asn8Ser	rs897507137	missense variant	-	NC_000006.12:g.10414963T>C	TOPMed,gnomAD
TFAP2A	P05549	p.Tyr11Cys	rs745818259	missense variant	-	NC_000006.12:g.10414954T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Glu12Asp	rs972628376	missense variant	-	NC_000006.12:g.10414950C>G	TOPMed,gnomAD
TFAP2A	P05549	p.Asp13Gly	rs757277133	missense variant	-	NC_000006.12:g.10414948T>C	ExAC,gnomAD
TFAP2A	P05549	p.Asp16Asn	rs1390260109	missense variant	-	NC_000006.12:g.10410335C>T	gnomAD
TFAP2A	P05549	p.Gly20Asp	rs143258135	missense variant	-	NC_000006.12:g.10410322C>T	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly20Val	rs143258135	missense variant	-	NC_000006.12:g.10410322C>A	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly20Ser	rs1031902856	missense variant	-	NC_000006.12:g.10410323C>T	TOPMed
TFAP2A	P05549	p.Gly24Arg	rs1158262777	missense variant	-	NC_000006.12:g.10410311C>T	gnomAD
TFAP2A	P05549	p.Thr25Arg	rs1480723872	missense variant	-	NC_000006.12:g.10410307G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Thr25Lys	rs1480723872	missense variant	-	NC_000006.12:g.10410307G>T	TOPMed,gnomAD
TFAP2A	P05549	p.Ala26Thr	rs1247903803	missense variant	-	NC_000006.12:g.10410305C>T	gnomAD
TFAP2A	P05549	p.Gln30Arg	rs1417791100	missense variant	-	NC_000006.12:g.10410292T>C	TOPMed
TFAP2A	P05549	p.Thr33Ala	rs9368354	missense variant	-	NC_000006.12:g.10410284T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Val34Gly	rs780216169	missense variant	-	NC_000006.12:g.10410280A>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly35Val	rs772479857	missense variant	-	NC_000006.12:g.10410277C>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser37Thr	rs1468852747	missense variant	-	NC_000006.12:g.10410272A>T	TOPMed
TFAP2A	P05549	p.Ser37Phe	rs779448987	missense variant	-	NC_000006.12:g.10410271G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro38His	rs1277168345	missense variant	-	NC_000006.12:g.10410268G>T	gnomAD
TFAP2A	P05549	p.Pro38Ser	rs1324911573	missense variant	-	NC_000006.12:g.10410269G>A	TOPMed,gnomAD
TFAP2A	P05549	p.Thr40Met	rs1231120267	missense variant	-	NC_000006.12:g.10410262G>A	gnomAD
TFAP2A	P05549	p.Ala42Ser	rs373246714	missense variant	-	NC_000006.12:g.10410257C>A	ESP,ExAC,gnomAD
TFAP2A	P05549	p.Leu45Pro	rs751224702	missense variant	-	NC_000006.12:g.10410247A>G	ExAC,gnomAD
TFAP2A	P05549	p.His47Pro	rs762787739	missense variant	-	NC_000006.12:g.10410241T>G	ExAC,gnomAD
TFAP2A	P05549	p.Thr48Ser	rs765183722	missense variant	-	NC_000006.12:g.10410238G>C	ExAC,gnomAD
TFAP2A	P05549	p.Thr48Pro	rs750226796	missense variant	-	NC_000006.12:g.10410239T>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Thr48Ile	rs765183722	missense variant	-	NC_000006.12:g.10410238G>A	ExAC,gnomAD
TFAP2A	P05549	p.Pro49Leu	rs761863117	missense variant	-	NC_000006.12:g.10410235G>A	ExAC,gnomAD
TFAP2A	P05549	p.Pro49Ser	rs1373206188	missense variant	-	NC_000006.12:g.10410236G>A	gnomAD
TFAP2A	P05549	p.Asn50Ser	rs527785340	missense variant	-	NC_000006.12:g.10410232T>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn50His	rs776792762	missense variant	-	NC_000006.12:g.10410233T>G	ExAC,gnomAD
TFAP2A	P05549	p.Ala51Pro	rs760904143	missense variant	-	NC_000006.12:g.10410230C>G	ExAC
TFAP2A	P05549	p.Asp52Asn	rs1443395951	missense variant	-	NC_000006.12:g.10410227C>T	TOPMed,gnomAD
TFAP2A	P05549	p.Asp52Ala	rs775764363	missense variant	-	NC_000006.12:g.10410226T>G	ExAC
TFAP2A	P05549	p.Phe53Leu	rs772228476	missense variant	-	NC_000006.12:g.10410224A>G	ExAC,gnomAD
TFAP2A	P05549	p.Pro55Thr	rs1199306870	missense variant	-	NC_000006.12:g.10410218G>T	gnomAD
TFAP2A	P05549	p.Phe58Ser	rs749803917	missense variant	-	NC_000006.12:g.10410208A>G	ExAC,gnomAD
TFAP2A	P05549	p.Phe58Leu	rs1297198582	missense variant	-	NC_000006.12:g.10410207G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Pro60Gln	rs778321721	missense variant	-	NC_000006.12:g.10410202G>T	ExAC
TFAP2A	P05549	p.Tyr62Ser	rs746550070	missense variant	-	NC_000006.12:g.10410196T>G	ExAC,gnomAD
TFAP2A	P05549	p.Tyr66Cys	rs758018662	missense variant	-	NC_000006.12:g.10410184T>C	ExAC,gnomAD
TFAP2A	P05549	p.Gln68Glu	rs750185451	missense variant	-	NC_000006.12:g.10410179G>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asp71Glu	rs560684169	missense variant	-	NC_000006.12:g.10410168A>T	1000Genomes,ExAC,TOPMed
TFAP2A	P05549	p.Pro72Ala	rs753822419	missense variant	-	NC_000006.12:g.10410167G>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro72Thr	rs753822419	missense variant	-	NC_000006.12:g.10410167G>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser74Thr	rs764184708	missense variant	-	NC_000006.12:g.10410161A>T	ExAC,gnomAD
TFAP2A	P05549	p.His75Tyr	rs1442384775	missense variant	-	NC_000006.12:g.10410158G>A	gnomAD
TFAP2A	P05549	p.Val76Ile	rs1193218173	missense variant	-	NC_000006.12:g.10410155C>T	gnomAD
TFAP2A	P05549	p.Asn77Lys	rs775468691	missense variant	-	NC_000006.12:g.10410150G>C	ExAC,gnomAD
TFAP2A	P05549	p.Pro79Ala	rs1207350614	missense variant	-	NC_000006.12:g.10410146G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Pro79Arg	rs1064797321	missense variant	-	NC_000006.12:g.10410145G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Tyr80Cys	rs1340179779	missense variant	-	NC_000006.12:g.10410142T>C	gnomAD
TFAP2A	P05549	p.Pro84Ala	rs1229159576	missense variant	-	NC_000006.12:g.10410131G>C	gnomAD
TFAP2A	P05549	p.Pro84Leu	rs200131527	missense variant	-	NC_000006.12:g.10410130G>A	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Leu85Val	rs376101872	missense variant	-	NC_000006.12:g.10410128G>C	ESP,gnomAD
TFAP2A	P05549	p.His86Gln	rs545067807	missense variant	-	NC_000006.12:g.10410123G>T	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ala87Thr	rs1309820486	missense variant	-	NC_000006.12:g.10410122C>T	gnomAD
TFAP2A	P05549	p.Pro89Arg	rs1369464081	missense variant	-	NC_000006.12:g.10410115G>C	gnomAD
TFAP2A	P05549	p.Pro97Ser	rs746489683	missense variant	-	NC_000006.12:g.10410092G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro97Leu	rs779455245	missense variant	-	NC_000006.12:g.10410091G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly98Arg	rs920462082	missense variant	-	NC_000006.12:g.10410089C>G	TOPMed
TFAP2A	P05549	p.Gln99His	rs372468982	missense variant	-	NC_000006.12:g.10410084C>G	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg100Thr	rs778774564	missense variant	-	NC_000006.12:g.10410082C>G	ExAC,gnomAD
TFAP2A	P05549	p.Ser102Arg	rs757104358	missense variant	-	NC_000006.12:g.10410075G>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser102Arg	rs757104358	missense variant	-	NC_000006.12:g.10410075G>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly106Glu	rs1227500007	missense variant	-	NC_000006.12:g.10410064C>T	gnomAD
TFAP2A	P05549	p.Gly106Arg	rs753730365	missense variant	-	NC_000006.12:g.10410065C>G	ExAC,gnomAD
TFAP2A	P05549	p.Leu108Gln	rs756034130	missense variant	-	NC_000006.12:g.10410058A>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Thr110Ala	rs1407939076	missense variant	-	NC_000006.12:g.10410053T>C	TOPMed,gnomAD
TFAP2A	P05549	p.Gly113Arg	rs767502053	missense variant	-	NC_000006.12:g.10410044C>T	ExAC,gnomAD
TFAP2A	P05549	p.Gln117Arg	rs1405134828	missense variant	-	NC_000006.12:g.10410031T>C	gnomAD
TFAP2A	P05549	p.Leu118Pro	rs1490019573	missense variant	-	NC_000006.12:g.10410028A>G	TOPMed
TFAP2A	P05549	p.Ser119Leu	rs1161927231	missense variant	-	NC_000006.12:g.10410025G>A	gnomAD
TFAP2A	P05549	p.Asp122Gly	rs1234156913	missense variant	-	NC_000006.12:g.10410016T>C	TOPMed
TFAP2A	P05549	p.Arg124His	rs763273543	missense variant	-	NC_000006.12:g.10410010C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg124Leu	rs763273543	missense variant	-	NC_000006.12:g.10410010C>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg125Lys	rs1405346146	missense variant	-	NC_000006.12:g.10410007C>T	TOPMed
TFAP2A	P05549	p.Asp126Glu	rs200574824	missense variant	-	NC_000006.12:g.10410003G>C	1000Genomes,ExAC,gnomAD
TFAP2A	P05549	p.Tyr127His	rs748618587	missense variant	-	NC_000006.12:g.10410002A>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Tyr127Cys	rs774997299	missense variant	-	NC_000006.12:g.10410001T>C	ExAC,gnomAD
TFAP2A	P05549	p.His130Gln	rs771478009	missense variant	-	NC_000006.12:g.10409991G>T	ExAC,gnomAD
TFAP2A	P05549	p.Leu134Pro	rs968299826	missense variant	-	NC_000006.12:g.10409980A>G	gnomAD
TFAP2A	P05549	p.His138Gln	rs778686750	missense variant	-	NC_000006.12:g.10409967G>T	ExAC,gnomAD
TFAP2A	P05549	p.Ala139Glu	rs770743434	missense variant	-	NC_000006.12:g.10409965G>T	ExAC,gnomAD
TFAP2A	P05549	p.Ser142Pro	rs1009464114	missense variant	-	NC_000006.12:g.10409957A>G	TOPMed,gnomAD
TFAP2A	P05549	p.Leu144Phe	rs1190763496	missense variant	-	NC_000006.12:g.10409951G>A	gnomAD
TFAP2A	P05549	p.Leu147Pro	rs1336225760	missense variant	-	NC_000006.12:g.10409941A>G	TOPMed
TFAP2A	P05549	p.Ser148Trp	rs1453679490	missense variant	-	NC_000006.12:g.10409938G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Ile149Asn	rs1206569048	missense variant	-	NC_000006.12:g.10409935A>T	gnomAD
TFAP2A	P05549	p.His150Tyr	rs1464302120	missense variant	-	NC_000006.12:g.10409933G>A	TOPMed,gnomAD
TFAP2A	P05549	p.Ser151Cys	rs555997980	missense variant	-	NC_000006.12:g.10409929G>C	1000Genomes,ExAC,gnomAD
TFAP2A	P05549	p.His154Leu	rs754995203	missense variant	-	NC_000006.12:g.10409920T>A	ExAC
TFAP2A	P05549	p.His154Gln	rs375321728	missense variant	-	NC_000006.12:g.10409919G>T	ESP,TOPMed,gnomAD
TFAP2A	P05549	p.Ala155Thr	rs1034685390	missense variant	-	NC_000006.12:g.10409918C>T	TOPMed,gnomAD
TFAP2A	P05549	p.Ile156Thr	rs1366944925	missense variant	-	NC_000006.12:g.10409914A>G	gnomAD
TFAP2A	P05549	p.Ile156Met	rs1295010353	missense variant	-	NC_000006.12:g.10409913G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Ile156Val	rs751678511	missense variant	-	NC_000006.12:g.10409915T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Glu157Gln	rs1001826033	missense variant	-	NC_000006.12:g.10409912C>G	TOPMed
TFAP2A	P05549	p.Glu157Lys	rs1001826033	missense variant	-	NC_000006.12:g.10409912C>T	TOPMed
TFAP2A	P05549	p.Glu158Asp	rs766548263	missense variant	-	NC_000006.12:g.10409907C>A	ExAC,gnomAD
TFAP2A	P05549	p.Glu158Val	rs1437702443	missense variant	-	NC_000006.12:g.10409908T>A	TOPMed
TFAP2A	P05549	p.Val159Ile	rs1384770887	missense variant	-	NC_000006.12:g.10409906C>T	gnomAD
TFAP2A	P05549	p.Pro160Leu	rs1303880752	missense variant	-	NC_000006.12:g.10409902G>A	gnomAD
TFAP2A	P05549	p.Pro160Gln	rs1303880752	missense variant	-	NC_000006.12:g.10409902G>T	gnomAD
TFAP2A	P05549	p.Val162Ile	rs540208578	missense variant	-	NC_000006.12:g.10406841C>T	1000Genomes,ExAC,gnomAD
TFAP2A	P05549	p.Pro165Thr	rs890498550	missense variant	-	NC_000006.12:g.10406832G>T	TOPMed
TFAP2A	P05549	p.Pro165Leu	rs765549775	missense variant	-	NC_000006.12:g.10406831G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro165Gln	rs765549775	missense variant	-	NC_000006.12:g.10406831G>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly166Ser	rs1449365849	missense variant	-	NC_000006.12:g.10406829C>T	TOPMed
TFAP2A	P05549	p.Gly166Asp	rs754264393	missense variant	-	NC_000006.12:g.10406828C>T	ExAC,gnomAD
TFAP2A	P05549	p.Ile167Met	rs528101301	missense variant	-	NC_000006.12:g.10406824A>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asp171Gly	rs1354299682	missense variant	-	NC_000006.12:g.10406813T>C	TOPMed
TFAP2A	P05549	p.Lys176Met	rs1321006396	missense variant	-	NC_000006.12:g.10406798T>A	gnomAD
TFAP2A	P05549	p.Pro179Ser	rs1443522039	missense variant	-	NC_000006.12:g.10404737G>A	gnomAD
TFAP2A	P05549	p.Val180Met	rs1208782432	missense variant	-	NC_000006.12:g.10404734C>T	gnomAD
TFAP2A	P05549	p.Leu182Pro	rs764532449	missense variant	-	NC_000006.12:g.10404727A>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Leu182Arg	rs764532449	missense variant	-	NC_000006.12:g.10404727A>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser183Tyr	rs146735451	missense variant	-	NC_000006.12:g.10404724G>T	ESP,ExAC,TOPMed
TFAP2A	P05549	p.Asn186Asp	rs201296512	missense variant	-	NC_000006.12:g.10404716T>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn186His	rs201296512	missense variant	-	NC_000006.12:g.10404716T>G	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser187Asn	rs1167211530	missense variant	-	NC_000006.12:g.10404712C>T	TOPMed
TFAP2A	P05549	p.Asn188Ser	rs565071190	missense variant	-	NC_000006.12:g.10404709T>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ala189Gly	rs1435982863	missense variant	-	NC_000006.12:g.10404706G>C	TOPMed
TFAP2A	P05549	p.Val190Ile	rs1332158151	missense variant	-	NC_000006.12:g.10404704C>T	gnomAD
TFAP2A	P05549	p.Val190Ala	rs1339506384	missense variant	-	NC_000006.12:g.10404703A>G	TOPMed
TFAP2A	P05549	p.Ile193Val	rs772810778	missense variant	-	NC_000006.12:g.10404695T>C	ExAC,gnomAD
TFAP2A	P05549	p.Pro194Ser	rs764751482	missense variant	-	NC_000006.12:g.10404692G>A	ExAC,gnomAD
TFAP2A	P05549	p.Ile195Met	rs761543465	missense variant	-	NC_000006.12:g.10404687A>C	ExAC,gnomAD
TFAP2A	P05549	p.Asn196Lys	rs925135582	missense variant	-	NC_000006.12:g.10404684G>T	TOPMed
TFAP2A	P05549	p.Asn199Asp	rs768437372	missense variant	-	NC_000006.12:g.10404677T>C	ExAC,gnomAD
TFAP2A	P05549	p.Phe201Leu	rs772033707	missense variant	-	NC_000006.12:g.10404669G>T	ExAC,gnomAD
TFAP2A	P05549	p.Gly203Asp	rs763437712	missense variant	-	NC_000006.12:g.10404664C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Val204Met	rs1207517084	missense variant	-	NC_000006.12:g.10404662C>T	gnomAD
TFAP2A	P05549	p.Val205Leu	rs1306008241	missense variant	-	NC_000006.12:g.10404659C>G	gnomAD
TFAP2A	P05549	p.Asn208Ser	rs202002859	missense variant	-	NC_000006.12:g.10404649T>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn208Thr	rs202002859	missense variant	-	NC_000006.12:g.10404649T>G	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Val210Ile	rs749528750	missense variant	-	NC_000006.12:g.10404644C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Val210Leu	rs749528750	missense variant	-	NC_000006.12:g.10404644C>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser213Leu	rs979214687	missense variant	-	NC_000006.12:g.10404634G>A	TOPMed
TFAP2A	P05549	p.Val214Asp	rs793888541	missense variant	-	NC_000006.12:g.10404631A>T	-
TFAP2A	P05549	p.Arg217Ser	rs793888540	missense variant	-	NC_000006.12:g.10404623G>T	-
TFAP2A	P05549	p.Arg217Leu	rs1554111768	missense variant	-	NC_000006.12:g.10404622C>A	-
TFAP2A	P05549	p.Thr224Ile	rs1341138385	missense variant	-	NC_000006.12:g.10404601G>A	TOPMed,gnomAD
TFAP2A	P05549	p.Ser225Pro	rs768098328	missense variant	-	NC_000006.12:g.10404599A>G	ExAC,gnomAD
TFAP2A	P05549	p.Val229Ile	rs749849069	missense variant	-	NC_000006.12:g.10404587C>T	ExAC,gnomAD
TFAP2A	P05549	p.Glu233Lys	rs1554111751	missense variant	-	NC_000006.12:g.10404575C>T	-
TFAP2A	P05549	p.Arg236Trp	rs1554111749	missense variant	-	NC_000006.12:g.10404566G>A	-
TFAP2A	P05549	p.Arg237Pro	rs151344525	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10404562C>G	-
TFAP2A	P05549	p.Arg237Gln	rs151344525	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10404562C>T	-
TFAP2A	P05549	p.Leu238Ile	rs1479723294	missense variant	-	NC_000006.12:g.10404560G>T	TOPMed,gnomAD
TFAP2A	P05549	p.Leu238Val	rs1479723294	missense variant	-	NC_000006.12:g.10404560G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Leu238Pro	rs1554111734	missense variant	-	NC_000006.12:g.10404559A>G	-
TFAP2A	P05549	p.Ser239Leu	rs1274356477	missense variant	-	NC_000006.12:g.10404556G>A	TOPMed
TFAP2A	P05549	p.Pro240Gln	rs1453058626	missense variant	-	NC_000006.12:g.10404553G>T	gnomAD
TFAP2A	P05549	p.Pro240Ala	rs1222662376	missense variant	-	NC_000006.12:g.10404554G>C	gnomAD
TFAP2A	P05549	p.Glu242Lys	rs151344526	missense variant	-	NC_000006.12:g.10404548C>T	-
TFAP2A	P05549	p.Cys243Arg	rs1232550960	missense variant	-	NC_000006.12:g.10404545A>G	gnomAD
TFAP2A	P05549	p.Leu244Ile	rs929697206	missense variant	-	NC_000006.12:g.10404542G>T	gnomAD
TFAP2A	P05549	p.Leu244Phe	rs929697206	missense variant	-	NC_000006.12:g.10404542G>A	gnomAD
TFAP2A	P05549	p.Leu249Pro	VAR_045838	Missense	Branchiooculofacial syndrome (BOFS) [MIM:113620]	-	UniProt
TFAP2A	P05549	p.Gly250Asp	rs1554111717	missense variant	-	NC_000006.12:g.10404523C>T	-
TFAP2A	P05549	p.Arg254Gln	rs151344530	missense variant	-	NC_000006.12:g.10404511C>T	-
TFAP2A	P05549	p.Arg254Trp	rs151344528	missense variant	-	NC_000006.12:g.10404512G>A	gnomAD
TFAP2A	P05549	p.Arg254Gly	rs151344528	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10404512G>C	UniProt,dbSNP
TFAP2A	P05549	p.Arg254Gly	VAR_045839	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10404512G>C	UniProt
TFAP2A	P05549	p.Arg254Gly	rs151344528	missense variant	-	NC_000006.12:g.10404512G>C	gnomAD
TFAP2A	P05549	p.Arg255Trp	rs121909574	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10404509T>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg255Gly	rs121909574	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10404509T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg255Gly	rs121909574	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10404509T>C	UniProt,dbSNP
TFAP2A	P05549	p.Arg255Gly	VAR_045840	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10404509T>C	UniProt
TFAP2A	P05549	p.Ala256Val	rs151344531	missense variant	-	NC_000006.12:g.10402608G>A	-
TFAP2A	P05549	p.Gly262Glu	rs121909575	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10402590C>T	-
TFAP2A	P05549	p.Gly262Glu	rs121909575	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10402590C>T	UniProt,dbSNP
TFAP2A	P05549	p.Gly262Glu	VAR_045841	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10402590C>T	UniProt
TFAP2A	P05549	p.Ser264Phe	rs781630462	missense variant	-	NC_000006.12:g.10402584G>A	ExAC
TFAP2A	P05549	p.Glu267Gln	rs747379877	missense variant	-	NC_000006.12:g.10402576C>G	ExAC,gnomAD
TFAP2A	P05549	p.Ile272Thr	rs1380933178	missense variant	-	NC_000006.12:g.10402560A>G	gnomAD
TFAP2A	P05549	p.Asn275Ser	rs1304000210	missense variant	-	NC_000006.12:g.10402551T>C	gnomAD
TFAP2A	P05549	p.Gly279Arg	rs1248995629	missense variant	-	NC_000006.12:g.10402540C>T	TOPMed
TFAP2A	P05549	p.Lys282Thr	rs1334796537	missense variant	-	NC_000006.12:g.10402530T>G	gnomAD
TFAP2A	P05549	p.Asn285Ser	rs1021266565	missense variant	-	NC_000006.12:g.10402521T>C	TOPMed,gnomAD
TFAP2A	P05549	p.Asn285Thr	rs1021266565	missense variant	-	NC_000006.12:g.10402521T>G	TOPMed,gnomAD
TFAP2A	P05549	p.Val286Ile	rs755697313	missense variant	-	NC_000006.12:g.10402519C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Val293Leu	rs1230671196	missense variant	-	NC_000006.12:g.10402498C>G	TOPMed,gnomAD
TFAP2A	P05549	p.Val293Ile	rs1230671196	missense variant	-	NC_000006.12:g.10402498C>T	TOPMed,gnomAD
TFAP2A	P05549	p.Glu296Lys	rs267607108	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10400587C>T	-
TFAP2A	P05549	p.Ala297Pro	rs1554110994	missense variant	-	NC_000006.12:g.10400584C>G	-
TFAP2A	P05549	p.His299Gln	rs1291410371	missense variant	-	NC_000006.12:g.10400576G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Val307Met	rs377114324	missense variant	-	NC_000006.12:g.10400554C>T	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Glu309Lys	rs756122879	missense variant	-	NC_000006.12:g.10400548C>T	ExAC,gnomAD
TFAP2A	P05549	p.Thr310Ile	rs752860081	missense variant	-	NC_000006.12:g.10400544G>A	ExAC,gnomAD
TFAP2A	P05549	p.Glu311Ala	rs144275164	missense variant	-	NC_000006.12:g.10400541T>G	ESP
TFAP2A	P05549	p.Phe320Cys	rs1347573125	missense variant	-	NC_000006.12:g.10400514A>C	gnomAD
TFAP2A	P05549	p.Leu321Val	rs1232638969	missense variant	-	NC_000006.12:g.10400512G>C	TOPMed
TFAP2A	P05549	p.Asn322Ser	rs759768857	missense variant	-	NC_000006.12:g.10400508T>C	ExAC,gnomAD
TFAP2A	P05549	p.Gln324Arg	rs751854479	missense variant	-	NC_000006.12:g.10400502T>C	ExAC,gnomAD
TFAP2A	P05549	p.His325Gln	rs763437006	missense variant	-	NC_000006.12:g.10400498A>C	ExAC
TFAP2A	P05549	p.Ser326Cys	rs1277818334	missense variant	-	NC_000006.12:g.10400496G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Asp327Asn	rs575186761	missense variant	-	NC_000006.12:g.10400494C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro328Ser	rs1233128354	missense variant	-	NC_000006.12:g.10400491G>A	gnomAD
TFAP2A	P05549	p.Asn329Ser	rs902671328	missense variant	-	NC_000006.12:g.10400487T>C	gnomAD
TFAP2A	P05549	p.Leu338Phe	rs1271181704	missense variant	-	NC_000006.12:g.10400461G>A	gnomAD
TFAP2A	P05549	p.Gln343Glu	rs750693033	missense variant	-	NC_000006.12:g.10398704G>C	ExAC,gnomAD
TFAP2A	P05549	p.Ile344Met	rs765634102	missense variant	-	NC_000006.12:g.10398699T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Phe348Tyr	rs757626207	missense variant	-	NC_000006.12:g.10398688A>T	ExAC,gnomAD
TFAP2A	P05549	p.Asp350Tyr	rs1298300281	missense variant	-	NC_000006.12:g.10398683C>A	gnomAD
TFAP2A	P05549	p.Ala353Thr	rs759083592	missense variant	-	NC_000006.12:g.10398674C>T	ExAC,gnomAD
TFAP2A	P05549	p.Arg356Leu	rs765898042	missense variant	-	NC_000006.12:g.10398664C>A	ExAC,gnomAD
TFAP2A	P05549	p.Pro358Ser	rs772807658	missense variant	-	NC_000006.12:g.10398659G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn361Ser	rs747986718	missense variant	-	NC_000006.12:g.10398649T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn365Ser	rs776521790	missense variant	-	NC_000006.12:g.10398637T>C	ExAC,gnomAD
TFAP2A	P05549	p.Asn365His	rs1479064980	missense variant	-	NC_000006.12:g.10398638T>G	TOPMed
TFAP2A	P05549	p.Ile367Val	rs1418554694	missense variant	-	NC_000006.12:g.10398632T>C	gnomAD
TFAP2A	P05549	p.Glu369Gln	rs1188838299	missense variant	-	NC_000006.12:g.10398626C>G	gnomAD
TFAP2A	P05549	p.Cys375Tyr	rs768613709	missense variant	-	NC_000006.12:g.10398607C>T	ExAC,gnomAD
TFAP2A	P05549	p.Thr377Ile	rs747045958	missense variant	-	NC_000006.12:g.10398601G>A	ExAC,gnomAD
TFAP2A	P05549	p.Ser383Thr	rs1274422034	missense variant	-	NC_000006.12:g.10398584A>T	TOPMed,gnomAD
TFAP2A	P05549	p.Ser388Arg	rs1165787572	missense variant	-	NC_000006.12:g.10398567G>C	TOPMed
TFAP2A	P05549	p.Pro389Ser	rs1353656280	missense variant	-	NC_000006.12:g.10398566G>A	gnomAD
TFAP2A	P05549	p.Cys392Ser	rs754293607	missense variant	-	NC_000006.12:g.10398556C>G	ExAC,gnomAD
TFAP2A	P05549	p.Cys392Tyr	rs754293607	missense variant	-	NC_000006.12:g.10398556C>T	ExAC,gnomAD
TFAP2A	P05549	p.Ala393Ser	rs778384375	missense variant	-	NC_000006.12:g.10398554C>A	ExAC,gnomAD
TFAP2A	P05549	p.Ala394Val	rs905854185	missense variant	-	NC_000006.12:g.10398550G>A	TOPMed
TFAP2A	P05549	p.Val395Phe	rs1395122023	missense variant	-	NC_000006.12:g.10398548C>A	gnomAD
TFAP2A	P05549	p.Thr396Met	rs1367388357	missense variant	-	NC_000006.12:g.10398544G>A	gnomAD
TFAP2A	P05549	p.Thr396Ser	rs750068981	missense variant	-	NC_000006.12:g.10398545T>A	ExAC,gnomAD
TFAP2A	P05549	p.Asn400Lys	rs1325930703	missense variant	-	NC_000006.12:g.10398531G>T	TOPMed
TFAP2A	P05549	p.Tyr401Cys	rs1248028062	missense variant	-	NC_000006.12:g.10398529T>C	gnomAD
TFAP2A	P05549	p.Glu404Lys	rs1274286799	missense variant	-	NC_000006.12:g.10398521C>T	gnomAD
TFAP2A	P05549	p.Lys407Thr	rs1052198371	missense variant	-	NC_000006.12:g.10398511T>G	TOPMed
TFAP2A	P05549	p.Met409Ile	rs1216098518	missense variant	-	NC_000006.12:g.10398504C>T	TOPMed,gnomAD
TFAP2A	P05549	p.Met412Arg	rs1332712198	missense variant	-	NC_000006.12:g.10398496A>C	TOPMed,gnomAD
TFAP2A	P05549	p.Tyr413Phe	rs1487162743	missense variant	-	NC_000006.12:g.10398493T>A	TOPMed
TFAP2A	P05549	p.Asn417Thr	rs1239924038	missense variant	-	NC_000006.12:g.10398481T>G	gnomAD
TFAP2A	P05549	p.Pro418Arg	rs867726953	missense variant	-	NC_000006.12:g.10398478G>C	gnomAD
TFAP2A	P05549	p.Pro418Leu	rs867726953	missense variant	-	NC_000006.12:g.10398478G>A	gnomAD
TFAP2A	P05549	p.Asn419Lys	rs3734391	missense variant	-	NC_000006.12:g.10398474G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn419Thr	rs201591227	missense variant	-	NC_000006.12:g.10398475T>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn419Ser	rs201591227	missense variant	-	NC_000006.12:g.10398475T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser420Asn	rs772175937	missense variant	-	NC_000006.12:g.10398472C>T	ExAC,gnomAD
TFAP2A	P05549	p.Asp423His	rs771307700	missense variant	-	NC_000006.12:g.10398464C>G	ExAC,gnomAD
TFAP2A	P05549	p.Asp423Asn	rs771307700	missense variant	-	NC_000006.12:g.10398464C>T	ExAC,gnomAD
TFAP2A	P05549	p.Asn425Lys	rs749620758	missense variant	-	NC_000006.12:g.10398456G>T	ExAC,gnomAD
TFAP2A	P05549	p.Ser428Asn	rs778294642	missense variant	-	NC_000006.12:g.10398448C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser429Gly	rs756614321	missense variant	-	NC_000006.12:g.10398446T>C	ExAC,gnomAD
TFAP2A	P05549	p.Glu433Lys	rs781601001	missense variant	-	NC_000006.12:g.10398434C>T	ExAC,gnomAD
TFAP2A	P05549	p.Ter438Trp	rs1554110673	stop lost	-	NC_000006.12:g.10398417T>C	-
TFAP2A	P05549	p.Met1Unk	COSM1071681	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.10414985T>G	NCI-TCGA Cosmic
TFAP2A	P05549	p.Lys4Thr	COSM1071680	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10414975T>G	NCI-TCGA Cosmic
TFAP2A	P05549	p.Thr6Met	rs1472670698	missense variant	-	NC_000006.12:g.10414969G>A	gnomAD
TFAP2A	P05549	p.Asn8Thr	rs897507137	missense variant	-	NC_000006.12:g.10414963T>G	TOPMed,gnomAD
TFAP2A	P05549	p.Asn8Ser	rs897507137	missense variant	-	NC_000006.12:g.10414963T>C	TOPMed,gnomAD
TFAP2A	P05549	p.Tyr11Cys	rs745818259	missense variant	-	NC_000006.12:g.10414954T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Glu12Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10414951T>G	NCI-TCGA
TFAP2A	P05549	p.Glu12Asp	rs972628376	missense variant	-	NC_000006.12:g.10414950C>G	TOPMed,gnomAD
TFAP2A	P05549	p.Asp13Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10414949C>A	NCI-TCGA
TFAP2A	P05549	p.Asp13Gly	rs757277133	missense variant	-	NC_000006.12:g.10414948T>C	ExAC,gnomAD
TFAP2A	P05549	p.Asp16Asn	rs1390260109	missense variant	-	NC_000006.12:g.10410335C>T	gnomAD
TFAP2A	P05549	p.Gly20Ser	rs1031902856	missense variant	-	NC_000006.12:g.10410323C>T	TOPMed
TFAP2A	P05549	p.Gly20Val	rs143258135	missense variant	-	NC_000006.12:g.10410322C>A	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly20Asp	rs143258135	missense variant	-	NC_000006.12:g.10410322C>T	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly24Arg	rs1158262777	missense variant	-	NC_000006.12:g.10410311C>T	gnomAD
TFAP2A	P05549	p.Thr25Lys	rs1480723872	missense variant	-	NC_000006.12:g.10410307G>T	TOPMed,gnomAD
TFAP2A	P05549	p.Thr25Arg	rs1480723872	missense variant	-	NC_000006.12:g.10410307G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Ala26Thr	rs1247903803	missense variant	-	NC_000006.12:g.10410305C>T	gnomAD
TFAP2A	P05549	p.Gln30ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10410292_10410293insG	NCI-TCGA
TFAP2A	P05549	p.Gln30Arg	rs1417791100	missense variant	-	NC_000006.12:g.10410292T>C	TOPMed
TFAP2A	P05549	p.Thr33Ala	rs9368354	missense variant	-	NC_000006.12:g.10410284T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Val34Gly	rs780216169	missense variant	-	NC_000006.12:g.10410280A>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly35Val	rs772479857	missense variant	-	NC_000006.12:g.10410277C>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser37Phe	rs779448987	missense variant	-	NC_000006.12:g.10410271G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser37Thr	rs1468852747	missense variant	-	NC_000006.12:g.10410272A>T	TOPMed
TFAP2A	P05549	p.Pro38Ser	rs1324911573	missense variant	-	NC_000006.12:g.10410269G>A	TOPMed,gnomAD
TFAP2A	P05549	p.Pro38His	rs1277168345	missense variant	-	NC_000006.12:g.10410268G>T	gnomAD
TFAP2A	P05549	p.Thr40Met	rs1231120267	missense variant	-	NC_000006.12:g.10410262G>A	gnomAD
TFAP2A	P05549	p.Ser41Ile	COSM3697425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10410259C>A	NCI-TCGA Cosmic
TFAP2A	P05549	p.Ala42Ser	rs373246714	missense variant	-	NC_000006.12:g.10410257C>A	ESP,ExAC,gnomAD
TFAP2A	P05549	p.Leu45Pro	rs751224702	missense variant	-	NC_000006.12:g.10410247A>G	ExAC,gnomAD
TFAP2A	P05549	p.His47Pro	rs762787739	missense variant	-	NC_000006.12:g.10410241T>G	ExAC,gnomAD
TFAP2A	P05549	p.Thr48Ile	rs765183722	missense variant	-	NC_000006.12:g.10410238G>A	ExAC,gnomAD
TFAP2A	P05549	p.Thr48Ser	rs765183722	missense variant	-	NC_000006.12:g.10410238G>C	ExAC,gnomAD
TFAP2A	P05549	p.Thr48Pro	rs750226796	missense variant	-	NC_000006.12:g.10410239T>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro49Ser	rs1373206188	missense variant	-	NC_000006.12:g.10410236G>A	gnomAD
TFAP2A	P05549	p.Pro49Leu	rs761863117	missense variant	-	NC_000006.12:g.10410235G>A	ExAC,gnomAD
TFAP2A	P05549	p.Asn50His	rs776792762	missense variant	-	NC_000006.12:g.10410233T>G	ExAC,gnomAD
TFAP2A	P05549	p.Asn50Ser	rs527785340	missense variant	-	NC_000006.12:g.10410232T>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ala51Pro	rs760904143	missense variant	-	NC_000006.12:g.10410230C>G	ExAC
TFAP2A	P05549	p.Asp52Asn	rs1443395951	missense variant	-	NC_000006.12:g.10410227C>T	TOPMed,gnomAD
TFAP2A	P05549	p.Asp52Ala	rs775764363	missense variant	-	NC_000006.12:g.10410226T>G	ExAC
TFAP2A	P05549	p.Phe53Leu	rs772228476	missense variant	-	NC_000006.12:g.10410224A>G	ExAC,gnomAD
TFAP2A	P05549	p.Pro55Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10410218G>A	NCI-TCGA
TFAP2A	P05549	p.Pro55Thr	rs1199306870	missense variant	-	NC_000006.12:g.10410218G>T	gnomAD
TFAP2A	P05549	p.Phe58Ser	rs749803917	missense variant	-	NC_000006.12:g.10410208A>G	ExAC,gnomAD
TFAP2A	P05549	p.Phe58Leu	rs1297198582	missense variant	-	NC_000006.12:g.10410207G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Pro59Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10410206G>A	NCI-TCGA
TFAP2A	P05549	p.Pro60Gln	rs778321721	missense variant	-	NC_000006.12:g.10410202G>T	ExAC
TFAP2A	P05549	p.Tyr62Ser	rs746550070	missense variant	-	NC_000006.12:g.10410196T>G	ExAC,gnomAD
TFAP2A	P05549	p.Gln63Ter	COSM1311424	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.10410194G>A	NCI-TCGA Cosmic
TFAP2A	P05549	p.Tyr66Cys	rs758018662	missense variant	-	NC_000006.12:g.10410184T>C	ExAC,gnomAD
TFAP2A	P05549	p.Gln68Glu	rs750185451	missense variant	-	NC_000006.12:g.10410179G>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser69Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10410175G>C	NCI-TCGA
TFAP2A	P05549	p.Asp71Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10410170C>A	NCI-TCGA
TFAP2A	P05549	p.Asp71Glu	rs560684169	missense variant	-	NC_000006.12:g.10410168A>T	1000Genomes,ExAC,TOPMed
TFAP2A	P05549	p.Pro72Thr	rs753822419	missense variant	-	NC_000006.12:g.10410167G>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro72Ala	rs753822419	missense variant	-	NC_000006.12:g.10410167G>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro72Leu	COSM3776968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10410166G>A	NCI-TCGA Cosmic
TFAP2A	P05549	p.Ser74Thr	rs764184708	missense variant	-	NC_000006.12:g.10410161A>T	ExAC,gnomAD
TFAP2A	P05549	p.Ser74Phe	COSM3410513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10410160G>A	NCI-TCGA Cosmic
TFAP2A	P05549	p.His75Tyr	rs1442384775	missense variant	-	NC_000006.12:g.10410158G>A	gnomAD
TFAP2A	P05549	p.Val76Ile	rs1193218173	missense variant	-	NC_000006.12:g.10410155C>T	gnomAD
TFAP2A	P05549	p.Asn77Lys	rs775468691	missense variant	-	NC_000006.12:g.10410150G>C	ExAC,gnomAD
TFAP2A	P05549	p.Asn77Ser	COSM1071676	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10410151T>C	NCI-TCGA Cosmic
TFAP2A	P05549	p.Asp78Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10410149C>T	NCI-TCGA
TFAP2A	P05549	p.Pro79Arg	rs1064797321	missense variant	-	NC_000006.12:g.10410145G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Pro79Ala	rs1207350614	missense variant	-	NC_000006.12:g.10410146G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Tyr80Cys	rs1340179779	missense variant	-	NC_000006.12:g.10410142T>C	gnomAD
TFAP2A	P05549	p.Pro84Leu	rs200131527	missense variant	-	NC_000006.12:g.10410130G>A	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro84Ala	rs1229159576	missense variant	-	NC_000006.12:g.10410131G>C	gnomAD
TFAP2A	P05549	p.Leu85Val	rs376101872	missense variant	-	NC_000006.12:g.10410128G>C	ESP,gnomAD
TFAP2A	P05549	p.His86Gln	rs545067807	missense variant	-	NC_000006.12:g.10410123G>T	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ala87Thr	rs1309820486	missense variant	-	NC_000006.12:g.10410122C>T	gnomAD
TFAP2A	P05549	p.Gln88Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10410119G>C	NCI-TCGA
TFAP2A	P05549	p.Pro89Arg	rs1369464081	missense variant	-	NC_000006.12:g.10410115G>C	gnomAD
TFAP2A	P05549	p.Pro97Leu	rs779455245	missense variant	-	NC_000006.12:g.10410091G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro97Ser	rs746489683	missense variant	-	NC_000006.12:g.10410092G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Gly98Arg	rs920462082	missense variant	-	NC_000006.12:g.10410089C>G	TOPMed
TFAP2A	P05549	p.Gln99His	rs372468982	missense variant	-	NC_000006.12:g.10410084C>G	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg100Thr	rs778774564	missense variant	-	NC_000006.12:g.10410082C>G	ExAC,gnomAD
TFAP2A	P05549	p.Ser102Arg	rs757104358	missense variant	-	NC_000006.12:g.10410075G>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser102Arg	rs757104358	missense variant	-	NC_000006.12:g.10410075G>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Glu104AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10410012_10410070AGGATCCAGGCCCGACAGCTGGTGAGGCAGCCCCCGGTGCGTGTGCAGGAGCCCAGACT>-	NCI-TCGA
TFAP2A	P05549	p.Gly106Arg	rs753730365	missense variant	-	NC_000006.12:g.10410065C>G	ExAC,gnomAD
TFAP2A	P05549	p.Gly106Glu	rs1227500007	missense variant	-	NC_000006.12:g.10410064C>T	gnomAD
TFAP2A	P05549	p.Leu108Gln	rs756034130	missense variant	-	NC_000006.12:g.10410058A>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Thr110Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10410052G>A	NCI-TCGA
TFAP2A	P05549	p.Thr110Ala	rs1407939076	missense variant	-	NC_000006.12:g.10410053T>C	TOPMed,gnomAD
TFAP2A	P05549	p.Gly113Arg	rs767502053	missense variant	-	NC_000006.12:g.10410044C>T	ExAC,gnomAD
TFAP2A	P05549	p.Gln117Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10410031T>A	NCI-TCGA
TFAP2A	P05549	p.Gln117Arg	rs1405134828	missense variant	-	NC_000006.12:g.10410031T>C	gnomAD
TFAP2A	P05549	p.Leu118Pro	rs1490019573	missense variant	-	NC_000006.12:g.10410028A>G	TOPMed
TFAP2A	P05549	p.Ser119Leu	rs1161927231	missense variant	-	NC_000006.12:g.10410025G>A	gnomAD
TFAP2A	P05549	p.Asp122Gly	rs1234156913	missense variant	-	NC_000006.12:g.10410016T>C	TOPMed
TFAP2A	P05549	p.Arg124Cys	COSM1071672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10410011G>A	NCI-TCGA Cosmic
TFAP2A	P05549	p.Arg124Leu	rs763273543	missense variant	-	NC_000006.12:g.10410010C>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg124His	rs763273543	missense variant	-	NC_000006.12:g.10410010C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg125Lys	rs1405346146	missense variant	-	NC_000006.12:g.10410007C>T	TOPMed
TFAP2A	P05549	p.Asp126Glu	rs200574824	missense variant	-	NC_000006.12:g.10410003G>C	1000Genomes,ExAC,gnomAD
TFAP2A	P05549	p.Tyr127His	rs748618587	missense variant	-	NC_000006.12:g.10410002A>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Tyr127Cys	rs774997299	missense variant	-	NC_000006.12:g.10410001T>C	ExAC,gnomAD
TFAP2A	P05549	p.Arg129Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10409995C>T	NCI-TCGA
TFAP2A	P05549	p.His130Gln	rs771478009	missense variant	-	NC_000006.12:g.10409991G>T	ExAC,gnomAD
TFAP2A	P05549	p.Leu134Pro	rs968299826	missense variant	-	NC_000006.12:g.10409980A>G	gnomAD
TFAP2A	P05549	p.His138Gln	rs778686750	missense variant	-	NC_000006.12:g.10409967G>T	ExAC,gnomAD
TFAP2A	P05549	p.Ala139Glu	rs770743434	missense variant	-	NC_000006.12:g.10409965G>T	ExAC,gnomAD
TFAP2A	P05549	p.Ser142Pro	rs1009464114	missense variant	-	NC_000006.12:g.10409957A>G	TOPMed,gnomAD
TFAP2A	P05549	p.Leu144Phe	rs1190763496	missense variant	-	NC_000006.12:g.10409951G>A	gnomAD
TFAP2A	P05549	p.Leu147Pro	rs1336225760	missense variant	-	NC_000006.12:g.10409941A>G	TOPMed
TFAP2A	P05549	p.Ser148Trp	rs1453679490	missense variant	-	NC_000006.12:g.10409938G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Ile149Asn	rs1206569048	missense variant	-	NC_000006.12:g.10409935A>T	gnomAD
TFAP2A	P05549	p.His150Tyr	rs1464302120	missense variant	-	NC_000006.12:g.10409933G>A	TOPMed,gnomAD
TFAP2A	P05549	p.Ser151Cys	rs555997980	missense variant	-	NC_000006.12:g.10409929G>C	1000Genomes,ExAC,gnomAD
TFAP2A	P05549	p.His154Gln	rs375321728	missense variant	-	NC_000006.12:g.10409919G>T	ESP,TOPMed,gnomAD
TFAP2A	P05549	p.His154Leu	rs754995203	missense variant	-	NC_000006.12:g.10409920T>A	ExAC
TFAP2A	P05549	p.Ala155Thr	rs1034685390	missense variant	-	NC_000006.12:g.10409918C>T	TOPMed,gnomAD
TFAP2A	P05549	p.Ile156Val	rs751678511	missense variant	-	NC_000006.12:g.10409915T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ile156Met	rs1295010353	missense variant	-	NC_000006.12:g.10409913G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Ile156Thr	rs1366944925	missense variant	-	NC_000006.12:g.10409914A>G	gnomAD
TFAP2A	P05549	p.Glu157Lys	rs1001826033	missense variant	-	NC_000006.12:g.10409912C>T	TOPMed
TFAP2A	P05549	p.Glu157Gln	rs1001826033	missense variant	-	NC_000006.12:g.10409912C>G	TOPMed
TFAP2A	P05549	p.Glu158Asp	rs766548263	missense variant	-	NC_000006.12:g.10409907C>A	ExAC,gnomAD
TFAP2A	P05549	p.Glu158Val	rs1437702443	missense variant	-	NC_000006.12:g.10409908T>A	TOPMed
TFAP2A	P05549	p.Val159Ala	COSM1487083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10409905A>G	NCI-TCGA Cosmic
TFAP2A	P05549	p.Val159Ile	rs1384770887	missense variant	-	NC_000006.12:g.10409906C>T	gnomAD
TFAP2A	P05549	p.Pro160Leu	rs1303880752	missense variant	-	NC_000006.12:g.10409902G>A	gnomAD
TFAP2A	P05549	p.Pro160Gln	rs1303880752	missense variant	-	NC_000006.12:g.10409902G>T	gnomAD
TFAP2A	P05549	p.Val162Ile	rs540208578	missense variant	-	NC_000006.12:g.10406841C>T	1000Genomes,ExAC,gnomAD
TFAP2A	P05549	p.Glu163Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10406838C>T	NCI-TCGA
TFAP2A	P05549	p.Pro165Gln	rs765549775	missense variant	-	NC_000006.12:g.10406831G>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro165Leu	rs765549775	missense variant	-	NC_000006.12:g.10406831G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro165Thr	rs890498550	missense variant	-	NC_000006.12:g.10406832G>T	TOPMed
TFAP2A	P05549	p.Gly166Ser	rs1449365849	missense variant	-	NC_000006.12:g.10406829C>T	TOPMed
TFAP2A	P05549	p.Gly166Asp	rs754264393	missense variant	-	NC_000006.12:g.10406828C>T	ExAC,gnomAD
TFAP2A	P05549	p.Ile167Met	rs528101301	missense variant	-	NC_000006.12:g.10406824A>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asp171Gly	rs1354299682	missense variant	-	NC_000006.12:g.10406813T>C	TOPMed
TFAP2A	P05549	p.Val174AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10406804_10406805AC>-	NCI-TCGA
TFAP2A	P05549	p.Lys176Met	rs1321006396	missense variant	-	NC_000006.12:g.10406798T>A	gnomAD
TFAP2A	P05549	p.Pro179Ser	rs1443522039	missense variant	-	NC_000006.12:g.10404737G>A	gnomAD
TFAP2A	P05549	p.Val180Met	rs1208782432	missense variant	-	NC_000006.12:g.10404734C>T	gnomAD
TFAP2A	P05549	p.Ser181Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10404730G>A	NCI-TCGA
TFAP2A	P05549	p.Leu182Arg	rs764532449	missense variant	-	NC_000006.12:g.10404727A>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Leu182Pro	rs764532449	missense variant	-	NC_000006.12:g.10404727A>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser183Tyr	rs146735451	missense variant	-	NC_000006.12:g.10404724G>T	ESP,ExAC,TOPMed
TFAP2A	P05549	p.Asn186Asp	rs201296512	missense variant	-	NC_000006.12:g.10404716T>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn186His	rs201296512	missense variant	-	NC_000006.12:g.10404716T>G	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser187Asn	rs1167211530	missense variant	-	NC_000006.12:g.10404712C>T	TOPMed
TFAP2A	P05549	p.Asn188Ser	rs565071190	missense variant	-	NC_000006.12:g.10404709T>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ala189Gly	rs1435982863	missense variant	-	NC_000006.12:g.10404706G>C	TOPMed
TFAP2A	P05549	p.Val190Ala	rs1339506384	missense variant	-	NC_000006.12:g.10404703A>G	TOPMed
TFAP2A	P05549	p.Val190Ile	rs1332158151	missense variant	-	NC_000006.12:g.10404704C>T	gnomAD
TFAP2A	P05549	p.Ser191Phe	COSM3776965	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10404700G>A	NCI-TCGA Cosmic
TFAP2A	P05549	p.Ser191Cys	COSM6105002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10404700G>C	NCI-TCGA Cosmic
TFAP2A	P05549	p.Ile193Val	rs772810778	missense variant	-	NC_000006.12:g.10404695T>C	ExAC,gnomAD
TFAP2A	P05549	p.Pro194Ser	rs764751482	missense variant	-	NC_000006.12:g.10404692G>A	ExAC,gnomAD
TFAP2A	P05549	p.Ile195Met	rs761543465	missense variant	-	NC_000006.12:g.10404687A>C	ExAC,gnomAD
TFAP2A	P05549	p.Asn196Lys	rs925135582	missense variant	-	NC_000006.12:g.10404684G>T	TOPMed
TFAP2A	P05549	p.Asn199Asp	rs768437372	missense variant	-	NC_000006.12:g.10404677T>C	ExAC,gnomAD
TFAP2A	P05549	p.Phe201Leu	rs772033707	missense variant	-	NC_000006.12:g.10404669G>T	ExAC,gnomAD
TFAP2A	P05549	p.Gly202Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10404668C>T	NCI-TCGA
TFAP2A	P05549	p.Gly203Asp	rs763437712	missense variant	-	NC_000006.12:g.10404664C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Val204Met	rs1207517084	missense variant	-	NC_000006.12:g.10404662C>T	gnomAD
TFAP2A	P05549	p.Val205Leu	rs1306008241	missense variant	-	NC_000006.12:g.10404659C>G	gnomAD
TFAP2A	P05549	p.Asn208Ser	rs202002859	missense variant	-	NC_000006.12:g.10404649T>C	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn208Thr	rs202002859	missense variant	-	NC_000006.12:g.10404649T>G	1000Genomes,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Glu209Lys	COSM1134245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10404647C>T	NCI-TCGA Cosmic
TFAP2A	P05549	p.Val210Leu	rs749528750	missense variant	-	NC_000006.12:g.10404644C>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Val210Ile	rs749528750	missense variant	-	NC_000006.12:g.10404644C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser213Leu	rs979214687	missense variant	-	NC_000006.12:g.10404634G>A	TOPMed
TFAP2A	P05549	p.Val214Asp	rs793888541	missense variant	-	NC_000006.12:g.10404631A>T	-
TFAP2A	P05549	p.Arg217Leu	rs1554111768	missense variant	-	NC_000006.12:g.10404622C>A	-
TFAP2A	P05549	p.Arg217Ser	rs793888540	missense variant	-	NC_000006.12:g.10404623G>T	-
TFAP2A	P05549	p.Thr224Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10404601G>T	NCI-TCGA
TFAP2A	P05549	p.Thr224Ile	rs1341138385	missense variant	-	NC_000006.12:g.10404601G>A	TOPMed,gnomAD
TFAP2A	P05549	p.Ser225Pro	rs768098328	missense variant	-	NC_000006.12:g.10404599A>G	ExAC,gnomAD
TFAP2A	P05549	p.Val229Ile	rs749849069	missense variant	-	NC_000006.12:g.10404587C>T	ExAC,gnomAD
TFAP2A	P05549	p.Glu233Lys	rs1554111751	missense variant	-	NC_000006.12:g.10404575C>T	-
TFAP2A	P05549	p.Arg236Trp	rs1554111749	missense variant	-	NC_000006.12:g.10404566G>A	-
TFAP2A	P05549	p.Arg237Pro	rs151344525	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10404562C>G	-
TFAP2A	P05549	p.Arg237Gln	rs151344525	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10404562C>T	-
TFAP2A	P05549	p.Leu238ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10404559_10404560insGC	NCI-TCGA
TFAP2A	P05549	p.Leu238Ile	rs1479723294	missense variant	-	NC_000006.12:g.10404560G>T	TOPMed,gnomAD
TFAP2A	P05549	p.Leu238Val	rs1479723294	missense variant	-	NC_000006.12:g.10404560G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Leu238Pro	rs1554111734	missense variant	-	NC_000006.12:g.10404559A>G	-
TFAP2A	P05549	p.Ser239Leu	rs1274356477	missense variant	-	NC_000006.12:g.10404556G>A	TOPMed
TFAP2A	P05549	p.Pro240Ala	rs1222662376	missense variant	-	NC_000006.12:g.10404554G>C	gnomAD
TFAP2A	P05549	p.Pro240Gln	rs1453058626	missense variant	-	NC_000006.12:g.10404553G>T	gnomAD
TFAP2A	P05549	p.Glu242Lys	rs151344526	missense variant	-	NC_000006.12:g.10404548C>T	-
TFAP2A	P05549	p.Cys243Arg	rs1232550960	missense variant	-	NC_000006.12:g.10404545A>G	gnomAD
TFAP2A	P05549	p.Leu244Ile	rs929697206	missense variant	-	NC_000006.12:g.10404542G>T	gnomAD
TFAP2A	P05549	p.Leu244Phe	rs929697206	missense variant	-	NC_000006.12:g.10404542G>A	gnomAD
TFAP2A	P05549	p.Ser247Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10404532G>A	NCI-TCGA
TFAP2A	P05549	p.Leu249Pro	VAR_045838	Missense	Branchiooculofacial syndrome (BOFS) [MIM:113620]	-	UniProt
TFAP2A	P05549	p.Gly250Asp	rs1554111717	missense variant	-	NC_000006.12:g.10404523C>T	-
TFAP2A	P05549	p.Arg254Gly	rs151344528	missense variant	-	NC_000006.12:g.10404512G>C	gnomAD
TFAP2A	P05549	p.Arg254Gly	rs151344528	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10404512G>C	UniProt,dbSNP
TFAP2A	P05549	p.Arg254Gly	VAR_045839	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10404512G>C	UniProt
TFAP2A	P05549	p.Arg254Trp	rs151344528	missense variant	-	NC_000006.12:g.10404512G>A	gnomAD
TFAP2A	P05549	p.Arg254Gln	rs151344530	missense variant	-	NC_000006.12:g.10404511C>T	-
TFAP2A	P05549	p.Arg255Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10404508C>T	NCI-TCGA
TFAP2A	P05549	p.Arg255Gly	rs121909574	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10404509T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg255Gly	rs121909574	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10404509T>C	UniProt,dbSNP
TFAP2A	P05549	p.Arg255Gly	VAR_045840	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10404509T>C	UniProt
TFAP2A	P05549	p.Arg255Gly	rs121909574	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10404509T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Arg255Trp	rs121909574	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10404509T>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ala256Val	rs151344531	missense variant	-	NC_000006.12:g.10402608G>A	-
TFAP2A	P05549	p.Asn260MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10402596T>-	NCI-TCGA
TFAP2A	P05549	p.Gly262Glu	rs121909575	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10402590C>T	UniProt,dbSNP
TFAP2A	P05549	p.Gly262Glu	VAR_045841	missense variant	Branchiooculofacial syndrome (BOFS)	NC_000006.12:g.10402590C>T	UniProt
TFAP2A	P05549	p.Gly262Glu	rs121909575	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10402590C>T	-
TFAP2A	P05549	p.Ser264Phe	rs781630462	missense variant	-	NC_000006.12:g.10402584G>A	ExAC
TFAP2A	P05549	p.Glu267Gln	rs747379877	missense variant	-	NC_000006.12:g.10402576C>G	ExAC,gnomAD
TFAP2A	P05549	p.Lys268AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10402571T>-	NCI-TCGA
TFAP2A	P05549	p.Ile272Thr	rs1380933178	missense variant	-	NC_000006.12:g.10402560A>G	gnomAD
TFAP2A	P05549	p.Asn275Ser	rs1304000210	missense variant	-	NC_000006.12:g.10402551T>C	gnomAD
TFAP2A	P05549	p.Pro277Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10402546G>A	NCI-TCGA
TFAP2A	P05549	p.Gly279Arg	rs1248995629	missense variant	-	NC_000006.12:g.10402540C>T	TOPMed
TFAP2A	P05549	p.Arg281His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10402533C>T	NCI-TCGA
TFAP2A	P05549	p.Lys282Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.10402531T>A	NCI-TCGA
TFAP2A	P05549	p.Lys282Thr	rs1334796537	missense variant	-	NC_000006.12:g.10402530T>G	gnomAD
TFAP2A	P05549	p.Ala283Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10402527G>A	NCI-TCGA
TFAP2A	P05549	p.Asn285Thr	rs1021266565	missense variant	-	NC_000006.12:g.10402521T>G	TOPMed,gnomAD
TFAP2A	P05549	p.Asn285Ser	rs1021266565	missense variant	-	NC_000006.12:g.10402521T>C	TOPMed,gnomAD
TFAP2A	P05549	p.Val286Ile	rs755697313	missense variant	-	NC_000006.12:g.10402519C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Val293Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10402497A>G	NCI-TCGA
TFAP2A	P05549	p.Val293Ile	rs1230671196	missense variant	-	NC_000006.12:g.10402498C>T	TOPMed,gnomAD
TFAP2A	P05549	p.Val293Gly	COSM4831592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10402497A>C	NCI-TCGA Cosmic
TFAP2A	P05549	p.Val293Leu	rs1230671196	missense variant	-	NC_000006.12:g.10402498C>G	TOPMed,gnomAD
TFAP2A	P05549	p.Glu294Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10402495C>G	NCI-TCGA
TFAP2A	P05549	p.Glu294Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.10402495C>A	NCI-TCGA
TFAP2A	P05549	p.Gly295Ter	COSM6172283	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.10402492C>A	NCI-TCGA Cosmic
TFAP2A	P05549	p.Glu296Lys	rs267607108	missense variant	Branchiooculofacial syndrome (bofs)	NC_000006.12:g.10400587C>T	-
TFAP2A	P05549	p.Ala297Pro	rs1554110994	missense variant	-	NC_000006.12:g.10400584C>G	-
TFAP2A	P05549	p.His299Gln	rs1291410371	missense variant	-	NC_000006.12:g.10400576G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Val307Met	rs377114324	missense variant	-	NC_000006.12:g.10400554C>T	ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Cys308Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10400550C>A	NCI-TCGA
TFAP2A	P05549	p.Glu309Lys	rs756122879	missense variant	-	NC_000006.12:g.10400548C>T	ExAC,gnomAD
TFAP2A	P05549	p.Thr310Ile	rs752860081	missense variant	-	NC_000006.12:g.10400544G>A	ExAC,gnomAD
TFAP2A	P05549	p.Glu311Ala	rs144275164	missense variant	-	NC_000006.12:g.10400541T>G	ESP
TFAP2A	P05549	p.Glu311Lys	COSM1071666	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10400542C>T	NCI-TCGA Cosmic
TFAP2A	P05549	p.Phe320Cys	rs1347573125	missense variant	-	NC_000006.12:g.10400514A>C	gnomAD
TFAP2A	P05549	p.Leu321Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10400512G>A	NCI-TCGA
TFAP2A	P05549	p.Leu321CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10400512_10400513insAAAGAGAAACA	NCI-TCGA
TFAP2A	P05549	p.Leu321Val	rs1232638969	missense variant	-	NC_000006.12:g.10400512G>C	TOPMed
TFAP2A	P05549	p.Asn322Ser	rs759768857	missense variant	-	NC_000006.12:g.10400508T>C	ExAC,gnomAD
TFAP2A	P05549	p.Arg323Pro	COSM3776962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10400505C>G	NCI-TCGA Cosmic
TFAP2A	P05549	p.Gln324Arg	rs751854479	missense variant	-	NC_000006.12:g.10400502T>C	ExAC,gnomAD
TFAP2A	P05549	p.His325Gln	rs763437006	missense variant	-	NC_000006.12:g.10400498A>C	ExAC
TFAP2A	P05549	p.Ser326Cys	rs1277818334	missense variant	-	NC_000006.12:g.10400496G>C	TOPMed,gnomAD
TFAP2A	P05549	p.Asp327Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10400492A>T	NCI-TCGA
TFAP2A	P05549	p.Asp327Asn	rs575186761	missense variant	-	NC_000006.12:g.10400494C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Pro328Ser	rs1233128354	missense variant	-	NC_000006.12:g.10400491G>A	gnomAD
TFAP2A	P05549	p.Asn329Ser	rs902671328	missense variant	-	NC_000006.12:g.10400487T>C	gnomAD
TFAP2A	P05549	p.Glu330Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10400484T>A	NCI-TCGA
TFAP2A	P05549	p.Asn336LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10400465_10400466insT	NCI-TCGA
TFAP2A	P05549	p.Leu338Phe	rs1271181704	missense variant	-	NC_000006.12:g.10400461G>A	gnomAD
TFAP2A	P05549	p.Gln343His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10398702C>G	NCI-TCGA
TFAP2A	P05549	p.Gln343Glu	rs750693033	missense variant	-	NC_000006.12:g.10398704G>C	ExAC,gnomAD
TFAP2A	P05549	p.Ile344Met	rs765634102	missense variant	-	NC_000006.12:g.10398699T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Cys345Arg	COSM1487082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10398698A>G	NCI-TCGA Cosmic
TFAP2A	P05549	p.Phe348Cys	COSM1487081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10398688A>C	NCI-TCGA Cosmic
TFAP2A	P05549	p.Phe348Tyr	rs757626207	missense variant	-	NC_000006.12:g.10398688A>T	ExAC,gnomAD
TFAP2A	P05549	p.Asp350Tyr	rs1298300281	missense variant	-	NC_000006.12:g.10398683C>A	gnomAD
TFAP2A	P05549	p.Ala353Thr	rs759083592	missense variant	-	NC_000006.12:g.10398674C>T	ExAC,gnomAD
TFAP2A	P05549	p.Gln354Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10398671G>C	NCI-TCGA
TFAP2A	P05549	p.Arg356Leu	rs765898042	missense variant	-	NC_000006.12:g.10398664C>A	ExAC,gnomAD
TFAP2A	P05549	p.Pro358Ser	rs772807658	missense variant	-	NC_000006.12:g.10398659G>A	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn361Ser	rs747986718	missense variant	-	NC_000006.12:g.10398649T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn365Ser	rs776521790	missense variant	-	NC_000006.12:g.10398637T>C	ExAC,gnomAD
TFAP2A	P05549	p.Asn365His	rs1479064980	missense variant	-	NC_000006.12:g.10398638T>G	TOPMed
TFAP2A	P05549	p.Ile367Val	rs1418554694	missense variant	-	NC_000006.12:g.10398632T>C	gnomAD
TFAP2A	P05549	p.Glu369Gln	rs1188838299	missense variant	-	NC_000006.12:g.10398626C>G	gnomAD
TFAP2A	P05549	p.Gln373Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10398614G>C	NCI-TCGA
TFAP2A	P05549	p.Cys375Tyr	rs768613709	missense variant	-	NC_000006.12:g.10398607C>T	ExAC,gnomAD
TFAP2A	P05549	p.Thr377Ile	rs747045958	missense variant	-	NC_000006.12:g.10398601G>A	ExAC,gnomAD
TFAP2A	P05549	p.Ser383Thr	rs1274422034	missense variant	-	NC_000006.12:g.10398584A>T	TOPMed,gnomAD
TFAP2A	P05549	p.His384Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10398581G>T	NCI-TCGA
TFAP2A	P05549	p.Gly387Ser	COSM1071662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10398572C>T	NCI-TCGA Cosmic
TFAP2A	P05549	p.Ser388Arg	rs1165787572	missense variant	-	NC_000006.12:g.10398567G>C	TOPMed
TFAP2A	P05549	p.Pro389Ser	rs1353656280	missense variant	-	NC_000006.12:g.10398566G>A	gnomAD
TFAP2A	P05549	p.Cys392Ser	rs754293607	missense variant	-	NC_000006.12:g.10398556C>G	ExAC,gnomAD
TFAP2A	P05549	p.Cys392Tyr	rs754293607	missense variant	-	NC_000006.12:g.10398556C>T	ExAC,gnomAD
TFAP2A	P05549	p.Ala393Ser	rs778384375	missense variant	-	NC_000006.12:g.10398554C>A	ExAC,gnomAD
TFAP2A	P05549	p.Ala394Val	rs905854185	missense variant	-	NC_000006.12:g.10398550G>A	TOPMed
TFAP2A	P05549	p.Val395Phe	rs1395122023	missense variant	-	NC_000006.12:g.10398548C>A	gnomAD
TFAP2A	P05549	p.Thr396Met	rs1367388357	missense variant	-	NC_000006.12:g.10398544G>A	gnomAD
TFAP2A	P05549	p.Thr396Ser	rs750068981	missense variant	-	NC_000006.12:g.10398545T>A	ExAC,gnomAD
TFAP2A	P05549	p.Ala397Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10398542C>T	NCI-TCGA
TFAP2A	P05549	p.Leu398Pro	COSM3857206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10398538A>G	NCI-TCGA Cosmic
TFAP2A	P05549	p.Asn400Lys	rs1325930703	missense variant	-	NC_000006.12:g.10398531G>T	TOPMed
TFAP2A	P05549	p.Tyr401His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10398530A>G	NCI-TCGA
TFAP2A	P05549	p.Tyr401Cys	rs1248028062	missense variant	-	NC_000006.12:g.10398529T>C	gnomAD
TFAP2A	P05549	p.Glu404Lys	rs1274286799	missense variant	-	NC_000006.12:g.10398521C>T	gnomAD
TFAP2A	P05549	p.Ala405Asp	COSM4929209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10398517G>T	NCI-TCGA Cosmic
TFAP2A	P05549	p.Lys407Thr	rs1052198371	missense variant	-	NC_000006.12:g.10398511T>G	TOPMed
TFAP2A	P05549	p.Met409Ile	rs1216098518	missense variant	-	NC_000006.12:g.10398504C>T	TOPMed,gnomAD
TFAP2A	P05549	p.Met412Arg	rs1332712198	missense variant	-	NC_000006.12:g.10398496A>C	TOPMed,gnomAD
TFAP2A	P05549	p.Tyr413Phe	rs1487162743	missense variant	-	NC_000006.12:g.10398493T>A	TOPMed
TFAP2A	P05549	p.Asn417Thr	rs1239924038	missense variant	-	NC_000006.12:g.10398481T>G	gnomAD
TFAP2A	P05549	p.Pro418Arg	rs867726953	missense variant	-	NC_000006.12:g.10398478G>C	gnomAD
TFAP2A	P05549	p.Pro418Leu	rs867726953	missense variant	-	NC_000006.12:g.10398478G>A	gnomAD
TFAP2A	P05549	p.Asn419Ser	rs201591227	missense variant	-	NC_000006.12:g.10398475T>C	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn419Lys	rs3734391	missense variant	-	NC_000006.12:g.10398474G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Asn419Thr	rs201591227	missense variant	-	NC_000006.12:g.10398475T>G	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser420Asn	rs772175937	missense variant	-	NC_000006.12:g.10398472C>T	ExAC,gnomAD
TFAP2A	P05549	p.Asp423His	rs771307700	missense variant	-	NC_000006.12:g.10398464C>G	ExAC,gnomAD
TFAP2A	P05549	p.Asp423Asn	rs771307700	missense variant	-	NC_000006.12:g.10398464C>T	ExAC,gnomAD
TFAP2A	P05549	p.Asn425Lys	rs749620758	missense variant	-	NC_000006.12:g.10398456G>T	ExAC,gnomAD
TFAP2A	P05549	p.Asn425Lys	COSM3994534	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10398456G>C	NCI-TCGA Cosmic
TFAP2A	P05549	p.Ser428Asn	rs778294642	missense variant	-	NC_000006.12:g.10398448C>T	ExAC,TOPMed,gnomAD
TFAP2A	P05549	p.Ser429Gly	rs756614321	missense variant	-	NC_000006.12:g.10398446T>C	ExAC,gnomAD
TFAP2A	P05549	p.Glu433Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10398432C>A	NCI-TCGA
TFAP2A	P05549	p.Glu433Lys	rs781601001	missense variant	-	NC_000006.12:g.10398434C>T	ExAC,gnomAD
TFAP2A	P05549	p.Lys434Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10398429C>G	NCI-TCGA
TFAP2A	P05549	p.Arg436Lys	COSM3828692	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10398424C>T	NCI-TCGA Cosmic
TFAP2A	P05549	p.Ter438Trp	rs1554110673	stop lost	-	NC_000006.12:g.10398417T>C	-
ITGB1	P05556	p.Asn2Ser	rs916061555	missense variant	-	NC_000010.11:g.32935554T>C	TOPMed
ITGB1	P05556	p.Asn2Asp	rs968971453	missense variant	-	NC_000010.11:g.32935555T>C	TOPMed
ITGB1	P05556	p.Leu3Val	rs997789554	missense variant	-	NC_000010.11:g.32935552A>C	gnomAD
ITGB1	P05556	p.Ile6Ser	COSM297514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32935542A>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Ile6Val	rs145491875	missense variant	-	NC_000010.11:g.32935543T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Trp8Ter	rs1428136624	stop gained	-	NC_000010.11:g.32935536C>T	TOPMed
ITGB1	P05556	p.Gly10Val	rs200458757	missense variant	-	NC_000010.11:g.32935530C>A	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Gly10Glu	rs200458757	missense variant	-	NC_000010.11:g.32935530C>T	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Ile12Leu	rs202130881	missense variant	-	NC_000010.11:g.32935525T>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile12Val	rs202130881	missense variant	-	NC_000010.11:g.32935525T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser13Thr	rs764497906	missense variant	-	NC_000010.11:g.32935521C>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Cys16Tyr	rs1274633392	missense variant	-	NC_000010.11:g.32935512C>T	gnomAD
ITGB1	P05556	p.Cys17Tyr	rs1463403678	missense variant	-	NC_000010.11:g.32935509C>T	gnomAD
ITGB1	P05556	p.Val18Leu	rs960212643	missense variant	-	NC_000010.11:g.32935507C>G	TOPMed
ITGB1	P05556	p.Val18Ala	rs201074958	missense variant	-	NC_000010.11:g.32935506A>G	ExAC,gnomAD
ITGB1	P05556	p.Ala20Val	rs1036151655	missense variant	-	NC_000010.11:g.32935500G>A	TOPMed
ITGB1	P05556	p.Asn25Ser	rs756514419	missense variant	-	NC_000010.11:g.32932594T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn25Asp	rs201578324	missense variant	-	NC_000010.11:g.32932595T>C	ExAC,gnomAD
ITGB1	P05556	p.Arg26Gly	rs368009619	missense variant	-	NC_000010.11:g.32932592T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Leu28Phe	rs542886836	missense variant	-	NC_000010.11:g.32932584T>G	ExAC,gnomAD
ITGB1	P05556	p.Leu28Phe	rs542886836	missense variant	-	NC_000010.11:g.32932584T>A	ExAC,gnomAD
ITGB1	P05556	p.Lys33Thr	rs199649717	missense variant	-	NC_000010.11:g.32932570T>G	gnomAD
ITGB1	P05556	p.Gly36Arg	rs1224105401	missense variant	-	NC_000010.11:g.32932562C>T	TOPMed
ITGB1	P05556	p.Glu37Gly	rs1347259034	missense variant	-	NC_000010.11:g.32932558T>C	gnomAD
ITGB1	P05556	p.Gln40Ter	rs1311988149	stop gained	-	NC_000010.11:g.32932550G>A	TOPMed
ITGB1	P05556	p.Ala41Val	rs1324109793	missense variant	-	NC_000010.11:g.32932546G>A	gnomAD
ITGB1	P05556	p.Pro43Leu	rs766410858	missense variant	-	NC_000010.11:g.32932540G>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn44Ser	rs1349082007	missense variant	-	NC_000010.11:g.32932537T>C	gnomAD
ITGB1	P05556	p.Asn44His	rs572604555	missense variant	-	NC_000010.11:g.32932538T>G	ExAC,gnomAD
ITGB1	P05556	p.del52GlnGlyGlnIleValGlyGlyAlaGlnIleGlnTer	rs753433767	stop gained	-	NC_000010.11:g.32930044_32930045insTTACTGAATTTGTGCACCACCCACAATTTGGCCCTG	ExAC
ITGB1	P05556	p.Thr52Ile	rs1187434879	missense variant	-	NC_000010.11:g.32930043G>A	gnomAD
ITGB1	P05556	p.Thr60Ala	rs200264507	missense variant	-	NC_000010.11:g.32930020T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser61Tyr	rs1186477632	missense variant	-	NC_000010.11:g.32930016G>T	TOPMed
ITGB1	P05556	p.Ala62Ser	rs765529330	missense variant	-	NC_000010.11:g.32930014C>A	ExAC,gnomAD
ITGB1	P05556	p.Arg63HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.32930010C>-	NCI-TCGA
ITGB1	P05556	p.Arg63Ter	rs761893522	stop gained	-	NC_000010.11:g.32930011G>A	ExAC,gnomAD
ITGB1	P05556	p.Arg63Gln	rs1295663223	missense variant	-	NC_000010.11:g.32930010C>T	gnomAD
ITGB1	P05556	p.Glu68Lys	rs1454318304	missense variant	-	NC_000010.11:g.32929996C>T	TOPMed,gnomAD
ITGB1	P05556	p.Ala69Thr	rs1254561607	missense variant	-	NC_000010.11:g.32929993C>T	gnomAD
ITGB1	P05556	p.Lys71Ile	rs41276074	missense variant	-	NC_000010.11:g.32929986T>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Lys73Asn	rs763951643	missense variant	-	NC_000010.11:g.32929979C>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp78Gly	rs139853740	missense variant	-	NC_000010.11:g.32929965T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp78Ala	rs139853740	missense variant	-	NC_000010.11:g.32929965T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp79Gly	rs1391893825	missense variant	-	NC_000010.11:g.32929962T>C	gnomAD
ITGB1	P05556	p.Ile80Leu	rs1056276129	missense variant	-	NC_000010.11:g.32929960T>G	TOPMed
ITGB1	P05556	p.Ile80Thr	rs374297803	missense variant	-	NC_000010.11:g.32929959A>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Pro83Ser	rs1433123203	missense variant	-	NC_000010.11:g.32929951G>A	TOPMed
ITGB1	P05556	p.Arg84Lys	rs201517778	missense variant	-	NC_000010.11:g.32929947C>T	TOPMed,gnomAD
ITGB1	P05556	p.Arg84Gly	rs1156851982	missense variant	-	NC_000010.11:g.32929948T>C	gnomAD
ITGB1	P05556	p.Asp88Gly	rs1440620014	missense variant	-	NC_000010.11:g.32929935T>C	TOPMed
ITGB1	P05556	p.Ile89Thr	rs200363943	missense variant	-	NC_000010.11:g.32929932A>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile89Lys	rs200363943	missense variant	-	NC_000010.11:g.32929932A>T	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Lys90Asn	COSM275596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32929928C>A	NCI-TCGA Cosmic
ITGB1	P05556	p.Asn92Asp	rs748857918	missense variant	-	NC_000010.11:g.32929924T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn97His	rs1469203752	missense variant	-	NC_000010.11:g.32929909T>G	gnomAD
ITGB1	P05556	p.Asn97Thr	rs755317981	missense variant	-	NC_000010.11:g.32929908T>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn97Ser	rs755317981	missense variant	-	NC_000010.11:g.32929908T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Arg98Cys	COSM4013890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32929906G>A	NCI-TCGA Cosmic
ITGB1	P05556	p.Ser99Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32929902C>T	NCI-TCGA
ITGB1	P05556	p.Glu104Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32929886C>A	NCI-TCGA
ITGB1	P05556	p.Glu104Gly	rs376535145	missense variant	-	NC_000010.11:g.32929887T>C	ESP,ExAC,gnomAD
ITGB1	P05556	p.Lys105Asn	rs1033421843	missense variant	-	NC_000010.11:g.32929883C>A	TOPMed,gnomAD
ITGB1	P05556	p.Asp110Ala	rs1441111217	missense variant	-	NC_000010.11:g.32929869T>G	gnomAD
ITGB1	P05556	p.Ile111Val	rs778838990	missense variant	-	NC_000010.11:g.32929867T>C	ExAC,gnomAD
ITGB1	P05556	p.Gln113Glu	COSM4850008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32929861G>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Gln118His	rs1364371165	missense variant	-	NC_000010.11:g.32929844C>G	gnomAD
ITGB1	P05556	p.Val120Ile	rs760550365	missense variant	-	NC_000010.11:g.32929840C>T	ExAC,gnomAD
ITGB1	P05556	p.Arg122Ter	COSM4875844	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.32929834G>A	NCI-TCGA Cosmic
ITGB1	P05556	p.Arg122Gln	rs147749674	missense variant	-	NC_000010.11:g.32929833C>T	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser125Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32929824G>A	NCI-TCGA
ITGB1	P05556	p.Glu127Lys	rs767386605	missense variant	-	NC_000010.11:g.32928262C>T	ExAC,gnomAD
ITGB1	P05556	p.Thr130Pro	rs751433907	missense variant	-	NC_000010.11:g.32928253T>G	ExAC,gnomAD
ITGB1	P05556	p.Thr130Ile	rs766277472	missense variant	-	NC_000010.11:g.32928252G>A	ExAC,gnomAD
ITGB1	P05556	p.Phe131Ile	rs1480577740	missense variant	-	NC_000010.11:g.32928250A>T	TOPMed
ITGB1	P05556	p.Thr132Ala	rs1297408113	missense variant	-	NC_000010.11:g.32928247T>C	gnomAD
ITGB1	P05556	p.Thr132Ile	rs762377819	missense variant	-	NC_000010.11:g.32928246G>A	ExAC,gnomAD
ITGB1	P05556	p.Tyr141His	rs761435967	missense variant	-	NC_000010.11:g.32928220A>G	ExAC,gnomAD
ITGB1	P05556	p.Leu148Val	rs1374022817	missense variant	-	NC_000010.11:g.32928199G>C	gnomAD
ITGB1	P05556	p.Met149Val	COSM1646302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32928196T>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Met149Leu	COSM427509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32928196T>G	NCI-TCGA Cosmic
ITGB1	P05556	p.Met149Ile	COSM3437367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32928194C>A	NCI-TCGA Cosmic
ITGB1	P05556	p.Asp150Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32928192T>C	NCI-TCGA
ITGB1	P05556	p.Tyr153Ter	rs2230394	stop gained	-	NC_000010.11:g.32928182G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Met155Ile	rs1432187541	missense variant	-	NC_000010.11:g.32928176C>T	gnomAD
ITGB1	P05556	p.Asp158Asn	COSM1347657	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32928169C>T	NCI-TCGA Cosmic
ITGB1	P05556	p.Val162Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32928156A>C	NCI-TCGA
ITGB1	P05556	p.Lys163Thr	COSM3686455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32928153T>G	NCI-TCGA Cosmic
ITGB1	P05556	p.Asp168Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32928138T>C	NCI-TCGA
ITGB1	P05556	p.Leu169Val	rs148743888	missense variant	-	NC_000010.11:g.32928136G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Met173Arg	rs1194907916	missense variant	-	NC_000010.11:g.32928123A>C	gnomAD
ITGB1	P05556	p.Arg174Ser	rs200464013	missense variant	-	NC_000010.11:g.32928119C>G	ESP,ExAC,gnomAD
ITGB1	P05556	p.Arg174Lys	rs1339702145	missense variant	-	NC_000010.11:g.32928120C>T	gnomAD
ITGB1	P05556	p.Arg175Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32928117C>T	NCI-TCGA
ITGB1	P05556	p.Thr177Ala	rs1036453465	missense variant	-	NC_000010.11:g.32928112T>C	TOPMed
ITGB1	P05556	p.Ser178Leu	rs199757647	missense variant	-	NC_000010.11:g.32928108G>A	TOPMed,gnomAD
ITGB1	P05556	p.Arg181Lys	rs754739008	missense variant	-	NC_000010.11:g.32928099C>T	ExAC,gnomAD
ITGB1	P05556	p.Ile182Leu	COSM4930175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32928097T>G	NCI-TCGA Cosmic
ITGB1	P05556	p.Val192Leu	rs748177484	missense variant	-	NC_000010.11:g.32926083C>A	ExAC,gnomAD
ITGB1	P05556	p.Val192Ala	rs1438923563	missense variant	-	NC_000010.11:g.32926082A>G	TOPMed,gnomAD
ITGB1	P05556	p.Pro194Arg	COSM3368018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32926076G>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Tyr195Phe	rs1456594086	missense variant	-	NC_000010.11:g.32926073T>A	TOPMed
ITGB1	P05556	p.Ile196Val	rs781271545	missense variant	-	NC_000010.11:g.32926071T>C	ExAC,gnomAD
ITGB1	P05556	p.Ser197Asn	rs755190764	missense variant	-	NC_000010.11:g.32926067C>T	ExAC,gnomAD
ITGB1	P05556	p.Thr199Ile	rs1407408487	missense variant	-	NC_000010.11:g.32926061G>A	gnomAD
ITGB1	P05556	p.Ala201Val	rs199850705	missense variant	-	NC_000010.11:g.32926055G>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser209Gly	rs779878662	missense variant	-	NC_000010.11:g.32926032T>C	ExAC
ITGB1	P05556	p.Glu210Gly	rs758310780	missense variant	-	NC_000010.11:g.32926028T>C	ExAC,gnomAD
ITGB1	P05556	p.Cys213Tyr	rs1191383968	missense variant	-	NC_000010.11:g.32926019C>T	gnomAD
ITGB1	P05556	p.Thr214Ala	rs1253206418	missense variant	-	NC_000010.11:g.32926017T>C	gnomAD
ITGB1	P05556	p.Thr214Ser	rs764787314	missense variant	-	NC_000010.11:g.32926016G>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Phe217Cys	rs1309369889	missense variant	-	NC_000010.11:g.32926007A>C	TOPMed
ITGB1	P05556	p.Lys220Gln	rs1445063392	missense variant	-	NC_000010.11:g.32925999T>G	gnomAD
ITGB1	P05556	p.Ser224Asn	rs1283484385	missense variant	-	NC_000010.11:g.32925986C>T	gnomAD
ITGB1	P05556	p.Ser224Gly	rs1320522428	missense variant	-	NC_000010.11:g.32925987T>C	TOPMed
ITGB1	P05556	p.Asn227Asp	rs756772903	missense variant	-	NC_000010.11:g.32925978T>C	ExAC,gnomAD
ITGB1	P05556	p.Lys228Gln	rs753304128	missense variant	-	NC_000010.11:g.32925975T>G	ExAC,gnomAD
ITGB1	P05556	p.Glu230Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32925969C>T	NCI-TCGA
ITGB1	P05556	p.Asn233Ser	rs760351536	missense variant	-	NC_000010.11:g.32925959T>C	ExAC,gnomAD
ITGB1	P05556	p.Val236Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32925950A>G	NCI-TCGA
ITGB1	P05556	p.Arg240His	rs371485643	missense variant	-	NC_000010.11:g.32925938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Arg240Cys	rs144269881	missense variant	-	NC_000010.11:g.32925939G>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile241Val	rs1361931611	missense variant	-	NC_000010.11:g.32925936T>C	gnomAD
ITGB1	P05556	p.Ser242Thr	COSM917812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32925933A>T	NCI-TCGA Cosmic
ITGB1	P05556	p.Asn244Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32925927T>C	NCI-TCGA
ITGB1	P05556	p.Glu249Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32925912C>T	NCI-TCGA
ITGB1	P05556	p.Gly250Cys	rs1197751859	missense variant	-	NC_000010.11:g.32925909C>A	TOPMed
ITGB1	P05556	p.Gly251Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32925906C>T	NCI-TCGA
ITGB1	P05556	p.Met256Ile	rs748273558	missense variant	-	NC_000010.11:g.32925889C>T	ExAC,gnomAD
ITGB1	P05556	p.Met256Val	rs1395376963	missense variant	-	NC_000010.11:g.32925891T>C	gnomAD
ITGB1	P05556	p.Ala259Val	rs200018637	missense variant	-	NC_000010.11:g.32925881G>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val260Ala	rs1193852901	missense variant	-	NC_000010.11:g.32925878A>G	gnomAD
ITGB1	P05556	p.Arg272Gln	rs1331600283	missense variant	-	NC_000010.11:g.32923712C>T	gnomAD
ITGB1	P05556	p.Leu273Val	rs572817157	missense variant	-	NC_000010.11:g.32923710G>C	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Val275Leu	rs1395894985	missense variant	-	NC_000010.11:g.32923704C>A	TOPMed
ITGB1	P05556	p.Val275Met	rs1395894985	missense variant	-	NC_000010.11:g.32923704C>T	TOPMed
ITGB1	P05556	p.Phe276Leu	COSM1474594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32923701A>G	NCI-TCGA Cosmic
ITGB1	P05556	p.Asp287Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32923668C>T	NCI-TCGA
ITGB1	P05556	p.Val294Ile	rs1479690659	missense variant	-	NC_000010.11:g.32923647C>T	gnomAD
ITGB1	P05556	p.Asn297Ser	rs1232526206	missense variant	-	NC_000010.11:g.32923637T>C	gnomAD
ITGB1	P05556	p.Leu303Gln	rs754631231	missense variant	-	NC_000010.11:g.32923619A>T	ExAC,gnomAD
ITGB1	P05556	p.Asn305Ser	rs750871428	missense variant	-	NC_000010.11:g.32923613T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn306His	rs765668184	missense variant	-	NC_000010.11:g.32923611T>G	ExAC,gnomAD
ITGB1	P05556	p.Met307Thr	rs762480349	missense variant	-	NC_000010.11:g.32923607A>G	ExAC,gnomAD
ITGB1	P05556	p.Met307Ile	rs754358100	missense variant	-	NC_000010.11:g.32923606C>T	ExAC,gnomAD
ITGB1	P05556	p.Met310Thr	COSM4872164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32923598A>G	NCI-TCGA Cosmic
ITGB1	P05556	p.Met310Val	rs764453276	missense variant	-	NC_000010.11:g.32923599T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Tyr313Phe	rs1354624433	missense variant	-	NC_000010.11:g.32923589T>A	TOPMed
ITGB1	P05556	p.Tyr314Phe	rs760814509	missense variant	-	NC_000010.11:g.32923586T>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Tyr314Cys	rs760814509	missense variant	-	NC_000010.11:g.32923586T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile319Val	rs201869797	missense variant	-	NC_000010.11:g.32922723T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val323Ala	rs1476371208	missense variant	-	NC_000010.11:g.32922710A>G	gnomAD
ITGB1	P05556	p.Gln324Glu	rs376146368	missense variant	-	NC_000010.11:g.32922708G>C	ESP
ITGB1	P05556	p.Lys325Thr	rs373692672	missense variant	-	NC_000010.11:g.32922704T>G	ESP,ExAC,gnomAD
ITGB1	P05556	p.Ser327Thr	rs1192033382	missense variant	-	NC_000010.11:g.32922698C>G	TOPMed
ITGB1	P05556	p.Ser327Ile	rs1192033382	missense variant	-	NC_000010.11:g.32922698C>A	TOPMed
ITGB1	P05556	p.Glu328Asp	rs370628530	missense variant	-	NC_000010.11:g.32922694T>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile334Thr	rs1345115648	missense variant	-	NC_000010.11:g.32922677A>G	gnomAD
ITGB1	P05556	p.Thr338Ile	rs1187458961	missense variant	-	NC_000010.11:g.32922665G>A	gnomAD
ITGB1	P05556	p.Thr338Pro	rs200759951	missense variant	-	NC_000010.11:g.32922666T>G	TOPMed,gnomAD
ITGB1	P05556	p.Gln342His	rs752813282	missense variant	-	NC_000010.11:g.32922652C>A	ExAC,gnomAD
ITGB1	P05556	p.Gln342His	rs752813282	missense variant	-	NC_000010.11:g.32922652C>G	ExAC,gnomAD
ITGB1	P05556	p.Pro343Leu	rs1158354537	missense variant	-	NC_000010.11:g.32922650G>A	TOPMed
ITGB1	P05556	p.Val344Ile	rs1293225428	missense variant	-	NC_000010.11:g.32922648C>T	gnomAD
ITGB1	P05556	p.Lys346Glu	rs114701235	missense variant	-	NC_000010.11:g.32922642T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Pro353Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32922328G>A	NCI-TCGA
ITGB1	P05556	p.Pro353Ala	rs764939409	missense variant	-	NC_000010.11:g.32922328G>C	ExAC,gnomAD
ITGB1	P05556	p.Ser355Ala	rs1412906406	missense variant	-	NC_000010.11:g.32922322A>C	TOPMed
ITGB1	P05556	p.Ala356Glu	rs761904105	missense variant	-	NC_000010.11:g.32922318G>T	ExAC,gnomAD
ITGB1	P05556	p.Val357Ala	rs1458060926	missense variant	-	NC_000010.11:g.32922315A>G	gnomAD
ITGB1	P05556	p.Thr359Arg	rs1226812252	missense variant	-	NC_000010.11:g.32922309G>C	TOPMed
ITGB1	P05556	p.Ala362Val	rs1259710150	missense variant	-	NC_000010.11:g.32922300G>A	gnomAD
ITGB1	P05556	p.Asn363Ser	rs768647991	missense variant	-	NC_000010.11:g.32922297T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn366Ser	COSM5121934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32922288T>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Leu370Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32922275C>G	NCI-TCGA
ITGB1	P05556	p.Ile371Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32922272G>C	NCI-TCGA
ITGB1	P05556	p.Asp373Gly	rs775092729	missense variant	-	NC_000010.11:g.32922267T>C	ExAC,gnomAD
ITGB1	P05556	p.Ala374Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32922265C>A	NCI-TCGA
ITGB1	P05556	p.Ala374Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32922264G>A	NCI-TCGA
ITGB1	P05556	p.Tyr375Cys	rs745501943	missense variant	-	NC_000010.11:g.32922261T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn376Asp	rs1401261988	missense variant	-	NC_000010.11:g.32922259T>C	gnomAD
ITGB1	P05556	p.Leu378Ile	COSM4013884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32920382G>T	NCI-TCGA Cosmic
ITGB1	P05556	p.Leu378Phe	rs1170802782	missense variant	-	NC_000010.11:g.32920382G>A	TOPMed
ITGB1	P05556	p.Ser379Phe	rs1284022746	missense variant	-	NC_000010.11:g.32920378G>A	TOPMed,gnomAD
ITGB1	P05556	p.Gly387Asp	COSM275595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32920354C>T	NCI-TCGA Cosmic
ITGB1	P05556	p.Gly387Ser	rs201962041	missense variant	-	NC_000010.11:g.32920355C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Lys388Arg	rs775130521	missense variant	-	NC_000010.11:g.32920351T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser390Pro	rs1407534184	missense variant	-	NC_000010.11:g.32920346A>G	gnomAD
ITGB1	P05556	p.Ser390Leu	rs1191171368	missense variant	-	NC_000010.11:g.32920345G>A	gnomAD
ITGB1	P05556	p.Glu391Asp	rs1225880679	missense variant	-	NC_000010.11:g.32920341T>G	TOPMed
ITGB1	P05556	p.Glu391Lys	rs1300948290	missense variant	-	NC_000010.11:g.32920343C>T	TOPMed
ITGB1	P05556	p.Glu391Gly	rs1157583804	missense variant	-	NC_000010.11:g.32920342T>C	TOPMed,gnomAD
ITGB1	P05556	p.Val393Leu	rs199697979	missense variant	-	NC_000010.11:g.32920337C>A	1000Genomes,gnomAD
ITGB1	P05556	p.Val393Ile	rs199697979	missense variant	-	NC_000010.11:g.32920337C>T	1000Genomes,gnomAD
ITGB1	P05556	p.Ile395Val	rs200656381	missense variant	-	NC_000010.11:g.32920331T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser396Arg	rs201578528	missense variant	-	NC_000010.11:g.32920326A>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser396Asn	rs199879048	missense variant	-	NC_000010.11:g.32920327C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser396Thr	rs199879048	missense variant	-	NC_000010.11:g.32920327C>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Tyr400His	rs780241199	missense variant	-	NC_000010.11:g.32920316A>G	ExAC,gnomAD
ITGB1	P05556	p.Gly404Ala	rs1429851361	missense variant	-	NC_000010.11:g.32920303C>G	TOPMed
ITGB1	P05556	p.Gly404Arg	rs779035544	missense variant	-	NC_000010.11:g.32920304C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gly407Ala	rs1156928035	missense variant	-	NC_000010.11:g.32920294C>G	TOPMed
ITGB1	P05556	p.Gly409Arg	rs763951778	missense variant	-	NC_000010.11:g.32920289C>T	ExAC,gnomAD
ITGB1	P05556	p.Gly409Val	rs907946164	missense variant	-	NC_000010.11:g.32920288C>A	TOPMed
ITGB1	P05556	p.Arg413Ile	rs767421947	missense variant	-	NC_000010.11:g.32920276C>A	ExAC
ITGB1	P05556	p.Ser416Phe	rs571920234	missense variant	-	NC_000010.11:g.32920267G>A	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Asn417Ser	rs372397463	missense variant	-	NC_000010.11:g.32920264T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn417Ser	rs372397463	missense variant	-	NC_000010.11:g.32920264T>C	NCI-TCGA
ITGB1	P05556	p.Ile420Thr	rs1298122818	missense variant	-	NC_000010.11:g.32920255A>G	gnomAD
ITGB1	P05556	p.Ile428Val	rs764807466	missense variant	-	NC_000010.11:g.32920072T>C	ExAC,gnomAD
ITGB1	P05556	p.Ser429Arg	rs760981561	missense variant	-	NC_000010.11:g.32920067G>T	ExAC,gnomAD
ITGB1	P05556	p.Ser429Thr	rs11557912	missense variant	-	NC_000010.11:g.32920068C>G	TOPMed
ITGB1	P05556	p.Ser429Ile	rs11557912	missense variant	-	NC_000010.11:g.32920068C>A	TOPMed
ITGB1	P05556	p.Ile430Thr	COSM1347648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32920065A>G	NCI-TCGA Cosmic
ITGB1	P05556	p.Ile430Val	rs775874993	missense variant	-	NC_000010.11:g.32920066T>C	ExAC,gnomAD
ITGB1	P05556	p.Ser432Leu	rs1383635424	missense variant	-	NC_000010.11:g.32920059G>A	TOPMed
ITGB1	P05556	p.Asn433Lys	rs1410851145	missense variant	-	NC_000010.11:g.32920055A>C	gnomAD
ITGB1	P05556	p.Lys437Glu	rs1399322556	missense variant	-	NC_000010.11:g.32920045T>C	NCI-TCGA
ITGB1	P05556	p.Lys437Glu	rs1399322556	missense variant	-	NC_000010.11:g.32920045T>C	TOPMed,gnomAD
ITGB1	P05556	p.Lys438ArgPheSerTerUnkUnk	COSM1560801	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.32920041T>-	NCI-TCGA Cosmic
ITGB1	P05556	p.Lys438Asn	COSM4868448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32920040C>A	NCI-TCGA Cosmic
ITGB1	P05556	p.Asp439Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32920039C>T	NCI-TCGA
ITGB1	P05556	p.Ser442Asn	rs1164692410	missense variant	-	NC_000010.11:g.32920029C>T	TOPMed
ITGB1	P05556	p.Phe443Ser	rs1429263257	missense variant	-	NC_000010.11:g.32920026A>G	gnomAD
ITGB1	P05556	p.Ile445Asn	COSM917806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32920020A>T	NCI-TCGA Cosmic
ITGB1	P05556	p.Thr451Met	rs201228879	missense variant	-	NC_000010.11:g.32920002G>A	NCI-TCGA,NCI-TCGA Cosmic
ITGB1	P05556	p.Thr451Met	rs201228879	missense variant	-	NC_000010.11:g.32920002G>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu453Gly	rs199980084	missense variant	-	NC_000010.11:g.32919996T>C	TOPMed
ITGB1	P05556	p.Glu453Val	rs199980084	missense variant	-	NC_000010.11:g.32919996T>A	TOPMed
ITGB1	P05556	p.Val454Ala	rs543305169	missense variant	-	NC_000010.11:g.32919993A>G	1000Genomes
ITGB1	P05556	p.Val454Ile	rs1444065674	missense variant	-	NC_000010.11:g.32919994C>T	gnomAD
ITGB1	P05556	p.Glu455Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32919990T>A	NCI-TCGA
ITGB1	P05556	p.Glu455Lys	rs756354856	missense variant	-	NC_000010.11:g.32919991C>T	ExAC,gnomAD
ITGB1	P05556	p.Ile457Ser	rs1331843307	missense variant	-	NC_000010.11:g.32919984A>C	gnomAD
ITGB1	P05556	p.Gln459Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.32919979G>A	NCI-TCGA
ITGB1	P05556	p.Cys464Arg	rs1380194121	missense variant	-	NC_000010.11:g.32919964A>G	TOPMed
ITGB1	P05556	p.Glu469Lys	rs754935937	missense variant	-	NC_000010.11:g.32919949C>T	ExAC,gnomAD
ITGB1	P05556	p.Ile471Leu	rs1315514997	missense variant	-	NC_000010.11:g.32919943T>G	TOPMed
ITGB1	P05556	p.Pro472Leu	rs1404856464	missense variant	-	NC_000010.11:g.32919939G>A	gnomAD
ITGB1	P05556	p.His478Arg	rs1275098280	missense variant	-	NC_000010.11:g.32919921T>C	NCI-TCGA Cosmic
ITGB1	P05556	p.His478Arg	rs1275098280	missense variant	-	NC_000010.11:g.32919921T>C	TOPMed,gnomAD
ITGB1	P05556	p.Gly480Glu	rs1438109107	missense variant	-	NC_000010.11:g.32919915C>T	gnomAD
ITGB1	P05556	p.Thr483Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32919906G>A	NCI-TCGA
ITGB1	P05556	p.Phe484Leu	rs377263167	missense variant	-	NC_000010.11:g.32919904A>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ala488Thr	rs749899655	missense variant	-	NC_000010.11:g.32919892C>T	NCI-TCGA
ITGB1	P05556	p.Ala488Thr	rs749899655	missense variant	-	NC_000010.11:g.32919892C>T	ExAC,gnomAD
ITGB1	P05556	p.Ala488Val	rs1009137692	missense variant	-	NC_000010.11:g.32919891G>A	TOPMed
ITGB1	P05556	p.Asn492Tyr	rs758287253	missense variant	-	NC_000010.11:g.32912120T>A	ExAC,gnomAD
ITGB1	P05556	p.Asn492Ser	rs749985371	missense variant	-	NC_000010.11:g.32912119T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu493Gly	rs778364434	missense variant	-	NC_000010.11:g.32912116T>C	ExAC,gnomAD
ITGB1	P05556	p.Gly494Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32912114C>G	NCI-TCGA
ITGB1	P05556	p.Arg495Cys	rs1455572744	missense variant	-	NC_000010.11:g.32912111G>A	gnomAD
ITGB1	P05556	p.Arg495Leu	rs1376107293	missense variant	-	NC_000010.11:g.32912110C>A	TOPMed,gnomAD
ITGB1	P05556	p.Arg495His	rs1376107293	missense variant	-	NC_000010.11:g.32912110C>T	TOPMed,gnomAD
ITGB1	P05556	p.Val496Ile	rs914643932	missense variant	-	NC_000010.11:g.32912108C>T	gnomAD
ITGB1	P05556	p.Arg498Ser	rs200455437	missense variant	-	NC_000010.11:g.32912100T>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.His499Leu	COSM3437364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32912098T>A	NCI-TCGA Cosmic
ITGB1	P05556	p.His499Arg	rs1487691064	missense variant	-	NC_000010.11:g.32912098T>C	gnomAD
ITGB1	P05556	p.Ser503ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.32912085G>-	NCI-TCGA
ITGB1	P05556	p.Ser503Gly	rs1418466672	missense variant	-	NC_000010.11:g.32912087T>C	TOPMed
ITGB1	P05556	p.Asp505His	COSM3790756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32912081C>G	NCI-TCGA Cosmic
ITGB1	P05556	p.Asp505Tyr	rs1218127710	missense variant	-	NC_000010.11:g.32912081C>A	gnomAD
ITGB1	P05556	p.Met512Leu	rs55976044	missense variant	-	NC_000010.11:g.32912060T>G	gnomAD
ITGB1	P05556	p.Met512Val	rs55976044	missense variant	-	NC_000010.11:g.32912060T>C	gnomAD
ITGB1	P05556	p.Glu519Gly	rs759975539	missense variant	-	NC_000010.11:g.32912038T>C	ExAC,gnomAD
ITGB1	P05556	p.Glu519Lys	rs1276253145	missense variant	-	NC_000010.11:g.32912039C>T	gnomAD
ITGB1	P05556	p.Glu519Gln	rs1276253145	missense variant	-	NC_000010.11:g.32912039C>G	gnomAD
ITGB1	P05556	p.Ser526Asn	rs767041384	missense variant	-	NC_000010.11:g.32912017C>T	ExAC
ITGB1	P05556	p.Asn528Ser	rs201578077	missense variant	-	NC_000010.11:g.32912011T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val532Ile	rs202115007	missense variant	-	NC_000010.11:g.32912000C>T	NCI-TCGA,NCI-TCGA Cosmic
ITGB1	P05556	p.Val532Ile	rs202115007	missense variant	-	NC_000010.11:g.32912000C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gly534Arg	rs761744138	missense variant	-	NC_000010.11:g.32911994C>T	ExAC,gnomAD
ITGB1	P05556	p.Val537Phe	rs1270034180	missense variant	-	NC_000010.11:g.32911985C>A	TOPMed
ITGB1	P05556	p.Arg539Lys	rs1424942339	missense variant	-	NC_000010.11:g.32911978C>T	gnomAD
ITGB1	P05556	p.Arg539Gly	rs1477803925	missense variant	-	NC_000010.11:g.32911979T>C	gnomAD
ITGB1	P05556	p.Arg539Ser	rs1338861487	missense variant	-	NC_000010.11:g.32911977C>A	TOPMed
ITGB1	P05556	p.Lys540Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32911976T>C	NCI-TCGA
ITGB1	P05556	p.Asn543Asp	rs377042646	missense variant	-	NC_000010.11:g.32911967T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn543His	rs377042646	missense variant	-	NC_000010.11:g.32911967T>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn543Thr	rs768724747	missense variant	-	NC_000010.11:g.32911966T>G	ExAC,gnomAD
ITGB1	P05556	p.Thr544Ile	rs746833541	missense variant	-	NC_000010.11:g.32911963G>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn545Asp	rs1470394100	missense variant	-	NC_000010.11:g.32911961T>C	gnomAD
ITGB1	P05556	p.Glu546Lys	COSM3368015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32911958C>T	NCI-TCGA Cosmic
ITGB1	P05556	p.Ile547Met	COSM5117551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32911953A>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Ile547Asn	rs1199396834	missense variant	-	NC_000010.11:g.32911954A>T	TOPMed
ITGB1	P05556	p.Lys551Thr	rs368864516	missense variant	-	NC_000010.11:g.32911942T>G	ESP,TOPMed
ITGB1	P05556	p.Lys551Arg	rs368864516	missense variant	-	NC_000010.11:g.32911942T>C	ESP,TOPMed
ITGB1	P05556	p.Glu554Asp	rs374777966	missense variant	-	NC_000010.11:g.32911932C>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu554Lys	rs772037930	missense variant	-	NC_000010.11:g.32911934C>T	ExAC,gnomAD
ITGB1	P05556	p.Ser563Phe	rs1241344185	missense variant	-	NC_000010.11:g.32911906G>A	TOPMed
ITGB1	P05556	p.Asn564Ser	rs201792925	missense variant	-	NC_000010.11:g.32911903T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gly565Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32911901C>A	NCI-TCGA
ITGB1	P05556	p.Ile567Thr	rs748704710	missense variant	-	NC_000010.11:g.32911894A>G	ExAC,gnomAD
ITGB1	P05556	p.Cys568Tyr	rs777503669	missense variant	-	NC_000010.11:g.32911891C>T	ExAC,gnomAD
ITGB1	P05556	p.Val573Ile	rs777117359	missense variant	-	NC_000010.11:g.32911662C>T	ExAC,gnomAD
ITGB1	P05556	p.Lys575Arg	rs199958656	missense variant	-	NC_000010.11:g.32911655T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Arg577His	rs201856355	missense variant	-	NC_000010.11:g.32911649C>T	NCI-TCGA,NCI-TCGA Cosmic
ITGB1	P05556	p.Arg577His	rs201856355	missense variant	-	NC_000010.11:g.32911649C>T	TOPMed,gnomAD
ITGB1	P05556	p.Arg577Cys	rs1378099428	missense variant	-	NC_000010.11:g.32911650G>A	TOPMed,gnomAD
ITGB1	P05556	p.Glu580Asp	rs200815086	missense variant	-	NC_000010.11:g.32911639C>G	ExAC,gnomAD
ITGB1	P05556	p.Pro583Ala	rs1445981420	missense variant	-	NC_000010.11:g.32911632G>C	TOPMed,gnomAD
ITGB1	P05556	p.Pro583Leu	rs144105498	missense variant	-	NC_000010.11:g.32911631G>A	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Asn584Lys	rs753990803	missense variant	-	NC_000010.11:g.32911627G>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn584Ser	rs1016123180	missense variant	-	NC_000010.11:g.32911628T>C	TOPMed
ITGB1	P05556	p.Tyr585Ter	rs764080813	stop gained	-	NC_000010.11:g.32911624G>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gly587Asp	rs1456697974	missense variant	-	NC_000010.11:g.32911619C>T	TOPMed
ITGB1	P05556	p.Ser588Ile	rs1402621179	missense variant	-	NC_000010.11:g.32911616C>A	gnomAD
ITGB1	P05556	p.Ala589Val	rs1284172663	missense variant	-	NC_000010.11:g.32911613G>A	gnomAD
ITGB1	P05556	p.Asp591Val	rs775704852	missense variant	-	NC_000010.11:g.32911607T>A	ExAC,gnomAD
ITGB1	P05556	p.Ser593Cys	rs1281690625	missense variant	-	NC_000010.11:g.32911601G>C	gnomAD
ITGB1	P05556	p.Leu594Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32911597C>G	NCI-TCGA
ITGB1	P05556	p.Asp595His	rs199508465	missense variant	-	NC_000010.11:g.32911596C>G	ESP
ITGB1	P05556	p.Thr596Asn	rs767684488	missense variant	-	NC_000010.11:g.32911592G>T	ExAC,gnomAD
ITGB1	P05556	p.Ser597Gly	rs759345589	missense variant	-	NC_000010.11:g.32911590T>C	ExAC,gnomAD
ITGB1	P05556	p.Glu600Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32911581C>T	NCI-TCGA
ITGB1	P05556	p.Asn603Ser	rs1165302915	missense variant	-	NC_000010.11:g.32911571T>C	TOPMed
ITGB1	P05556	p.Gly604Arg	rs200480675	missense variant	-	NC_000010.11:g.32911569C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gln605His	rs749178434	missense variant	-	NC_000010.11:g.32911564C>A	ExAC,gnomAD
ITGB1	P05556	p.Gln605Lys	rs1297236582	missense variant	-	NC_000010.11:g.32911566G>T	TOPMed,gnomAD
ITGB1	P05556	p.Gln605Ter	rs1297236582	stop gained	-	NC_000010.11:g.32911566G>A	TOPMed,gnomAD
ITGB1	P05556	p.Asn608Ser	rs1170655864	missense variant	-	NC_000010.11:g.32911556T>C	TOPMed,gnomAD
ITGB1	P05556	p.Gly609Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32911553C>T	NCI-TCGA
ITGB1	P05556	p.Gly611Val	rs1448624168	missense variant	-	NC_000010.11:g.32911547C>A	TOPMed
ITGB1	P05556	p.Glu614Lys	rs140200196	missense variant	-	NC_000010.11:g.32911539C>T	NCI-TCGA
ITGB1	P05556	p.Glu614Lys	rs140200196	missense variant	-	NC_000010.11:g.32911539C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu614Val	rs1490869588	missense variant	-	NC_000010.11:g.32911538T>A	gnomAD
ITGB1	P05556	p.Cys615Tyr	rs768376224	missense variant	-	NC_000010.11:g.32911535C>T	ExAC,gnomAD
ITGB1	P05556	p.Val617Ile	rs746293620	missense variant	-	NC_000010.11:g.32911530C>T	ExAC,gnomAD
ITGB1	P05556	p.Thr621Ile	rs1242349659	missense variant	-	NC_000010.11:g.32911517G>A	TOPMed
ITGB1	P05556	p.Pro623Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32911512G>C	NCI-TCGA
ITGB1	P05556	p.Pro623Leu	rs147943624	missense variant	-	NC_000010.11:g.32911511G>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gln626His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32911501T>A	NCI-TCGA
ITGB1	P05556	p.Gln626Ter	COSM5703581	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.32911503G>A	NCI-TCGA Cosmic
ITGB1	P05556	p.Gln628His	rs1199095079	missense variant	-	NC_000010.11:g.32911495T>G	gnomAD
ITGB1	P05556	p.Thr629Met	rs201159705	missense variant	-	NC_000010.11:g.32911493G>A	ExAC,gnomAD
ITGB1	P05556	p.Cys630Tyr	COSM6129268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32911490C>T	NCI-TCGA Cosmic
ITGB1	P05556	p.Met632Leu	rs1225851848	missense variant	-	NC_000010.11:g.32911485T>A	gnomAD
ITGB1	P05556	p.Met632Ile	rs1339053887	missense variant	-	NC_000010.11:g.32911483C>T	gnomAD
ITGB1	P05556	p.Gln634His	rs918735678	missense variant	-	NC_000010.11:g.32911477C>G	gnomAD
ITGB1	P05556	p.Gln634Arg	rs1256284140	missense variant	-	NC_000010.11:g.32911478T>C	TOPMed
ITGB1	P05556	p.Leu637Arg	rs200349597	missense variant	-	NC_000010.11:g.32911469A>C	gnomAD
ITGB1	P05556	p.Glu642Gln	rs1346665551	missense variant	-	NC_000010.11:g.32911455C>G	gnomAD
ITGB1	P05556	p.Lys644Glu	rs1459139024	missense variant	-	NC_000010.11:g.32911449T>C	TOPMed
ITGB1	P05556	p.Cys646Tyr	rs1282093413	missense variant	-	NC_000010.11:g.32910450C>T	gnomAD
ITGB1	P05556	p.Val647Ile	rs141385192	missense variant	-	NC_000010.11:g.32910448C>T	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Phe652Ser	rs778272545	missense variant	-	NC_000010.11:g.32910432A>G	ExAC
ITGB1	P05556	p.Phe652Leu	rs375572295	missense variant	-	NC_000010.11:g.32910433A>G	ESP,ExAC,gnomAD
ITGB1	P05556	p.Asn653Ser	COSM1646305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32910429T>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Asn653Asp	rs1019998537	missense variant	-	NC_000010.11:g.32910430T>C	TOPMed,gnomAD
ITGB1	P05556	p.Lys654Thr	rs1463859184	missense variant	-	NC_000010.11:g.32910426T>G	gnomAD
ITGB1	P05556	p.Gly655Glu	rs756589020	missense variant	-	NC_000010.11:g.32910423C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gly655Arg	rs1399459473	missense variant	-	NC_000010.11:g.32910424C>T	gnomAD
ITGB1	P05556	p.Lys657Glu	rs752811283	missense variant	-	NC_000010.11:g.32910418T>C	ExAC,gnomAD
ITGB1	P05556	p.Lys657Asn	rs200928291	missense variant	-	NC_000010.11:g.32910416C>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Lys658GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.32910416_32910417insT	NCI-TCGA
ITGB1	P05556	p.Lys658Arg	rs139673287	missense variant	-	NC_000010.11:g.32910414T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp659Glu	rs751742962	missense variant	-	NC_000010.11:g.32910410G>C	ExAC,gnomAD
ITGB1	P05556	p.Thr662Ser	rs762685966	missense variant	-	NC_000010.11:g.32910403T>A	ExAC,gnomAD
ITGB1	P05556	p.Gln663Leu	rs1456670387	missense variant	-	NC_000010.11:g.32910399T>A	gnomAD
ITGB1	P05556	p.Cys665Arg	rs750195307	missense variant	-	NC_000010.11:g.32910394A>G	ExAC,gnomAD
ITGB1	P05556	p.Ser666Tyr	rs765315222	missense variant	-	NC_000010.11:g.32910390G>T	ExAC,gnomAD
ITGB1	P05556	p.Tyr667Cys	COSM465612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32910387T>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Phe668Leu	rs1461519934	missense variant	-	NC_000010.11:g.32910385A>G	TOPMed
ITGB1	P05556	p.Asn669Ile	COSM5130169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32910381T>A	NCI-TCGA Cosmic
ITGB1	P05556	p.Asn669Tyr	rs1309745209	missense variant	-	NC_000010.11:g.32910382T>A	gnomAD
ITGB1	P05556	p.Ile670Thr	rs1359793308	missense variant	-	NC_000010.11:g.32910378A>G	gnomAD
ITGB1	P05556	p.Ile670Val	rs776347556	missense variant	-	NC_000010.11:g.32910379T>C	ExAC,gnomAD
ITGB1	P05556	p.Thr671Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32910376T>C	NCI-TCGA
ITGB1	P05556	p.Lys672Glu	rs1330009356	missense variant	-	NC_000010.11:g.32910373T>C	TOPMed
ITGB1	P05556	p.Lys672Arg	rs768272306	missense variant	-	NC_000010.11:g.32910372T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val673Glu	rs201866476	missense variant	-	NC_000010.11:g.32910369A>T	gnomAD
ITGB1	P05556	p.Val673Gly	rs201866476	missense variant	-	NC_000010.11:g.32910369A>C	gnomAD
ITGB1	P05556	p.Arg676Leu	rs199935806	missense variant	-	NC_000010.11:g.32910360C>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Arg676Gln	rs199935806	missense variant	-	NC_000010.11:g.32910360C>T	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Arg676Trp	rs1298708463	missense variant	-	NC_000010.11:g.32910361G>A	gnomAD
ITGB1	P05556	p.Asp677Tyr	rs1348029876	missense variant	-	NC_000010.11:g.32910358C>A	gnomAD
ITGB1	P05556	p.Leu679Ser	rs1162845308	missense variant	-	NC_000010.11:g.32910351A>G	TOPMed,gnomAD
ITGB1	P05556	p.Leu679Phe	rs201846400	missense variant	-	NC_000010.11:g.32910350T>G	ExAC,gnomAD
ITGB1	P05556	p.Gln684Glu	COSM427507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32910337G>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Asp686His	rs1256188347	missense variant	-	NC_000010.11:g.32910331C>G	TOPMed
ITGB1	P05556	p.Asp686Gly	rs1481767889	missense variant	-	NC_000010.11:g.32910330T>C	TOPMed
ITGB1	P05556	p.Lys694Arg	rs781620722	missense variant	-	NC_000010.11:g.32910306T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp695Val	rs1190441625	missense variant	-	NC_000010.11:g.32910303T>A	TOPMed
ITGB1	P05556	p.Val696Ile	rs1490352943	missense variant	-	NC_000010.11:g.32910301C>T	TOPMed,gnomAD
ITGB1	P05556	p.Asp697Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32910296G>C	NCI-TCGA
ITGB1	P05556	p.Asp698Glu	rs1352492397	missense variant	-	NC_000010.11:g.32910293G>T	gnomAD
ITGB1	P05556	p.Asp698His	rs200536241	missense variant	-	NC_000010.11:g.32910295C>G	gnomAD
ITGB1	P05556	p.Asp698Asn	rs200536241	missense variant	-	NC_000010.11:g.32910295C>T	gnomAD
ITGB1	P05556	p.Phe701Leu	rs780160126	missense variant	-	NC_000010.11:g.32910284G>C	ExAC,gnomAD
ITGB1	P05556	p.Tyr702Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.32910281A>C	NCI-TCGA
ITGB1	P05556	p.Tyr702Cys	rs1370811577	missense variant	-	NC_000010.11:g.32910282T>C	TOPMed
ITGB1	P05556	p.Thr704Met	rs1365486007	missense variant	-	NC_000010.11:g.32910276G>A	TOPMed,gnomAD
ITGB1	P05556	p.Val707Met	rs750284821	missense variant	-	NC_000010.11:g.32910268C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn708Ser	rs765119067	missense variant	-	NC_000010.11:g.32910264T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn711Ser	COSM5108486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32910255T>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Asn711Asp	rs1418151629	missense variant	-	NC_000010.11:g.32910256T>C	gnomAD
ITGB1	P05556	p.Glu712Lys	rs373574635	missense variant	-	NC_000010.11:g.32910253C>T	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val715Ala	rs887343411	missense variant	-	NC_000010.11:g.32910243A>G	TOPMed
ITGB1	P05556	p.His716Gln	rs142520287	missense variant	-	NC_000010.11:g.32910239A>T	ESP,ExAC,gnomAD
ITGB1	P05556	p.Val718Glu	rs767111928	missense variant	-	NC_000010.11:g.32910234A>T	ExAC,gnomAD
ITGB1	P05556	p.Asn720Asp	rs1270459374	missense variant	-	NC_000010.11:g.32910229T>C	gnomAD
ITGB1	P05556	p.Pro721Ala	rs369508240	missense variant	-	NC_000010.11:g.32910226G>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu722ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.32908533_32908534CT>-	NCI-TCGA
ITGB1	P05556	p.Glu722Asp	rs1209802271	missense variant	-	NC_000010.11:g.32908533C>G	TOPMed
ITGB1	P05556	p.Pro724Ala	rs200099735	missense variant	-	NC_000010.11:g.32908529G>C	ExAC,gnomAD
ITGB1	P05556	p.Thr725Pro	rs745881141	missense variant	-	NC_000010.11:g.32908526T>G	ExAC,gnomAD
ITGB1	P05556	p.Gly726Asp	rs779312239	missense variant	-	NC_000010.11:g.32908522C>T	ExAC,gnomAD
ITGB1	P05556	p.Ile729Met	rs749133019	missense variant	-	NC_000010.11:g.32908512G>C	ExAC,gnomAD
ITGB1	P05556	p.Ile729Val	rs771232092	missense variant	-	NC_000010.11:g.32908514T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile729Phe	rs771232092	missense variant	-	NC_000010.11:g.32908514T>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile732Val	rs201738777	missense variant	-	NC_000010.11:g.32908505T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val733Ala	rs756060620	missense variant	-	NC_000010.11:g.32908501A>G	ExAC,gnomAD
ITGB1	P05556	p.Gly739Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32908483C>G	NCI-TCGA
ITGB1	P05556	p.Leu742Ile	COSM4870051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32908475G>T	NCI-TCGA Cosmic
ITGB1	P05556	p.Gly744Asp	COSM4865105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32908468C>T	NCI-TCGA Cosmic
ITGB1	P05556	p.Ala746Thr	rs1320213528	missense variant	-	NC_000010.11:g.32908463C>T	gnomAD
ITGB1	P05556	p.Leu748Pro	rs1210970724	missense variant	-	NC_000010.11:g.32908456A>G	TOPMed
ITGB1	P05556	p.Leu753Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32908442G>T	NCI-TCGA
ITGB1	P05556	p.Leu753GluArgThr	NCI-TCGA novel	insertion	-	NC_000010.11:g.32908440_32908441insGTCCTTTCT	NCI-TCGA
ITGB1	P05556	p.Met755Leu	rs1453855258	missense variant	-	NC_000010.11:g.32908436T>G	TOPMed,gnomAD
ITGB1	P05556	p.Ile756Val	rs766068569	missense variant	-	NC_000010.11:g.32908433T>C	ExAC
ITGB1	P05556	p.Ile757Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32908430T>G	NCI-TCGA
ITGB1	P05556	p.Lys765Glu	COSM4013869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32908406T>C	NCI-TCGA Cosmic
ITGB1	P05556	p.Lys768Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32908395C>G	NCI-TCGA
ITGB1	P05556	p.Lys768Gln	rs1329951445	missense variant	-	NC_000010.11:g.32908397T>G	gnomAD
ITGB1	P05556	p.Glu769Ter	RCV000709687	frameshift	Neural tube defect (NTD)	NC_000010.11:g.32908399dup	ClinVar
ITGB1	P05556	p.Lys770Asn	COSM282001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32908389T>G	NCI-TCGA Cosmic
ITGB1	P05556	p.Lys774Thr	rs1474589579	missense variant	-	NC_000010.11:g.32908378T>G	TOPMed
ITGB1	P05556	p.Thr777Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32908370T>C	NCI-TCGA
ITGB1	P05556	p.Thr777Met	rs1188493444	missense variant	-	NC_000010.11:g.32908369G>A	TOPMed
ITGB1	P05556	p.Pro781Ser	COSM3437362	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32901626G>A	NCI-TCGA Cosmic
ITGB1	P05556	p.Val787Ile	rs775441007	missense variant	-	NC_000010.11:g.32901608C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Thr789Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32901601G>A	NCI-TCGA
ITGB1	P05556	p.Val791Ile	rs745435441	missense variant	-	NC_000010.11:g.32901596C>T	ExAC,gnomAD
ITGB1	P05556	p.Pro793Leu	COSM3437361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.32901589G>A	NCI-TCGA Cosmic
ITGB1	P05556	p.Lys794Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.32901585C>G	NCI-TCGA
ITGB1	P05556	p.Asn2Asp	rs968971453	missense variant	-	NC_000010.11:g.32935555T>C	TOPMed
ITGB1	P05556	p.Asn2Ser	rs916061555	missense variant	-	NC_000010.11:g.32935554T>C	TOPMed
ITGB1	P05556	p.Leu3Val	rs997789554	missense variant	-	NC_000010.11:g.32935552A>C	gnomAD
ITGB1	P05556	p.Ile6Val	rs145491875	missense variant	-	NC_000010.11:g.32935543T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Trp8Ter	rs1428136624	stop gained	-	NC_000010.11:g.32935536C>T	TOPMed
ITGB1	P05556	p.Gly10Val	rs200458757	missense variant	-	NC_000010.11:g.32935530C>A	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Gly10Glu	rs200458757	missense variant	-	NC_000010.11:g.32935530C>T	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Ile12Val	rs202130881	missense variant	-	NC_000010.11:g.32935525T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile12Leu	rs202130881	missense variant	-	NC_000010.11:g.32935525T>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser13Thr	rs764497906	missense variant	-	NC_000010.11:g.32935521C>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Cys16Tyr	rs1274633392	missense variant	-	NC_000010.11:g.32935512C>T	gnomAD
ITGB1	P05556	p.Cys17Tyr	rs1463403678	missense variant	-	NC_000010.11:g.32935509C>T	gnomAD
ITGB1	P05556	p.Val18Leu	rs960212643	missense variant	-	NC_000010.11:g.32935507C>G	TOPMed
ITGB1	P05556	p.Val18Ala	rs201074958	missense variant	-	NC_000010.11:g.32935506A>G	ExAC,gnomAD
ITGB1	P05556	p.Ala20Val	rs1036151655	missense variant	-	NC_000010.11:g.32935500G>A	TOPMed
ITGB1	P05556	p.Asn25Asp	rs201578324	missense variant	-	NC_000010.11:g.32932595T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn25Ser	rs756514419	missense variant	-	NC_000010.11:g.32932594T>C	ExAC,gnomAD
ITGB1	P05556	p.Arg26Gly	rs368009619	missense variant	-	NC_000010.11:g.32932592T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Leu28Phe	rs542886836	missense variant	-	NC_000010.11:g.32932584T>A	ExAC,gnomAD
ITGB1	P05556	p.Leu28Phe	rs542886836	missense variant	-	NC_000010.11:g.32932584T>G	ExAC,gnomAD
ITGB1	P05556	p.Lys33Thr	rs199649717	missense variant	-	NC_000010.11:g.32932570T>G	gnomAD
ITGB1	P05556	p.Gly36Arg	rs1224105401	missense variant	-	NC_000010.11:g.32932562C>T	TOPMed
ITGB1	P05556	p.Glu37Gly	rs1347259034	missense variant	-	NC_000010.11:g.32932558T>C	gnomAD
ITGB1	P05556	p.Gln40Ter	rs1311988149	stop gained	-	NC_000010.11:g.32932550G>A	TOPMed
ITGB1	P05556	p.Ala41Val	rs1324109793	missense variant	-	NC_000010.11:g.32932546G>A	gnomAD
ITGB1	P05556	p.Pro43Leu	rs766410858	missense variant	-	NC_000010.11:g.32932540G>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn44His	rs572604555	missense variant	-	NC_000010.11:g.32932538T>G	ExAC,gnomAD
ITGB1	P05556	p.Asn44Ser	rs1349082007	missense variant	-	NC_000010.11:g.32932537T>C	gnomAD
ITGB1	P05556	p.Thr52Ile	rs1187434879	missense variant	-	NC_000010.11:g.32930043G>A	gnomAD
ITGB1	P05556	p.del52GlnGlyGlnIleValGlyGlyAlaGlnIleGlnTer	rs753433767	stop gained	-	NC_000010.11:g.32930044_32930045insTTACTGAATTTGTGCACCACCCACAATTTGGCCCTG	ExAC
ITGB1	P05556	p.Thr60Ala	rs200264507	missense variant	-	NC_000010.11:g.32930020T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser61Tyr	rs1186477632	missense variant	-	NC_000010.11:g.32930016G>T	TOPMed
ITGB1	P05556	p.Ala62Ser	rs765529330	missense variant	-	NC_000010.11:g.32930014C>A	ExAC,gnomAD
ITGB1	P05556	p.Arg63Gln	rs1295663223	missense variant	-	NC_000010.11:g.32930010C>T	gnomAD
ITGB1	P05556	p.Arg63Ter	rs761893522	stop gained	-	NC_000010.11:g.32930011G>A	ExAC,gnomAD
ITGB1	P05556	p.Glu68Lys	rs1454318304	missense variant	-	NC_000010.11:g.32929996C>T	TOPMed,gnomAD
ITGB1	P05556	p.Ala69Thr	rs1254561607	missense variant	-	NC_000010.11:g.32929993C>T	gnomAD
ITGB1	P05556	p.Lys71Ile	rs41276074	missense variant	-	NC_000010.11:g.32929986T>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Lys73Asn	rs763951643	missense variant	-	NC_000010.11:g.32929979C>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp78Ala	rs139853740	missense variant	-	NC_000010.11:g.32929965T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp78Gly	rs139853740	missense variant	-	NC_000010.11:g.32929965T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp79Gly	rs1391893825	missense variant	-	NC_000010.11:g.32929962T>C	gnomAD
ITGB1	P05556	p.Ile80Thr	rs374297803	missense variant	-	NC_000010.11:g.32929959A>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile80Leu	rs1056276129	missense variant	-	NC_000010.11:g.32929960T>G	TOPMed
ITGB1	P05556	p.Pro83Ser	rs1433123203	missense variant	-	NC_000010.11:g.32929951G>A	TOPMed
ITGB1	P05556	p.Arg84Gly	rs1156851982	missense variant	-	NC_000010.11:g.32929948T>C	gnomAD
ITGB1	P05556	p.Arg84Lys	rs201517778	missense variant	-	NC_000010.11:g.32929947C>T	TOPMed,gnomAD
ITGB1	P05556	p.Asp88Gly	rs1440620014	missense variant	-	NC_000010.11:g.32929935T>C	TOPMed
ITGB1	P05556	p.Ile89Lys	rs200363943	missense variant	-	NC_000010.11:g.32929932A>T	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile89Thr	rs200363943	missense variant	-	NC_000010.11:g.32929932A>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn92Asp	rs748857918	missense variant	-	NC_000010.11:g.32929924T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn97His	rs1469203752	missense variant	-	NC_000010.11:g.32929909T>G	gnomAD
ITGB1	P05556	p.Asn97Thr	rs755317981	missense variant	-	NC_000010.11:g.32929908T>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn97Ser	rs755317981	missense variant	-	NC_000010.11:g.32929908T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu104Gly	rs376535145	missense variant	-	NC_000010.11:g.32929887T>C	ESP,ExAC,gnomAD
ITGB1	P05556	p.Lys105Asn	rs1033421843	missense variant	-	NC_000010.11:g.32929883C>A	TOPMed,gnomAD
ITGB1	P05556	p.Asp110Ala	rs1441111217	missense variant	-	NC_000010.11:g.32929869T>G	gnomAD
ITGB1	P05556	p.Ile111Val	rs778838990	missense variant	-	NC_000010.11:g.32929867T>C	ExAC,gnomAD
ITGB1	P05556	p.Gln118His	rs1364371165	missense variant	-	NC_000010.11:g.32929844C>G	gnomAD
ITGB1	P05556	p.Val120Ile	rs760550365	missense variant	-	NC_000010.11:g.32929840C>T	ExAC,gnomAD
ITGB1	P05556	p.Arg122Gln	rs147749674	missense variant	-	NC_000010.11:g.32929833C>T	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu127Lys	rs767386605	missense variant	-	NC_000010.11:g.32928262C>T	ExAC,gnomAD
ITGB1	P05556	p.Thr130Pro	rs751433907	missense variant	-	NC_000010.11:g.32928253T>G	ExAC,gnomAD
ITGB1	P05556	p.Thr130Ile	rs766277472	missense variant	-	NC_000010.11:g.32928252G>A	ExAC,gnomAD
ITGB1	P05556	p.Phe131Ile	rs1480577740	missense variant	-	NC_000010.11:g.32928250A>T	TOPMed
ITGB1	P05556	p.Thr132Ile	rs762377819	missense variant	-	NC_000010.11:g.32928246G>A	ExAC,gnomAD
ITGB1	P05556	p.Thr132Ala	rs1297408113	missense variant	-	NC_000010.11:g.32928247T>C	gnomAD
ITGB1	P05556	p.Tyr141His	rs761435967	missense variant	-	NC_000010.11:g.32928220A>G	ExAC,gnomAD
ITGB1	P05556	p.Leu148Val	rs1374022817	missense variant	-	NC_000010.11:g.32928199G>C	gnomAD
ITGB1	P05556	p.Tyr153Ter	rs2230394	stop gained	-	NC_000010.11:g.32928182G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Met155Ile	rs1432187541	missense variant	-	NC_000010.11:g.32928176C>T	gnomAD
ITGB1	P05556	p.Leu169Val	rs148743888	missense variant	-	NC_000010.11:g.32928136G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Met173Arg	rs1194907916	missense variant	-	NC_000010.11:g.32928123A>C	gnomAD
ITGB1	P05556	p.Arg174Lys	rs1339702145	missense variant	-	NC_000010.11:g.32928120C>T	gnomAD
ITGB1	P05556	p.Arg174Ser	rs200464013	missense variant	-	NC_000010.11:g.32928119C>G	ESP,ExAC,gnomAD
ITGB1	P05556	p.Thr177Ala	rs1036453465	missense variant	-	NC_000010.11:g.32928112T>C	TOPMed
ITGB1	P05556	p.Ser178Leu	rs199757647	missense variant	-	NC_000010.11:g.32928108G>A	TOPMed,gnomAD
ITGB1	P05556	p.Arg181Lys	rs754739008	missense variant	-	NC_000010.11:g.32928099C>T	ExAC,gnomAD
ITGB1	P05556	p.Val192Ala	rs1438923563	missense variant	-	NC_000010.11:g.32926082A>G	TOPMed,gnomAD
ITGB1	P05556	p.Val192Leu	rs748177484	missense variant	-	NC_000010.11:g.32926083C>A	ExAC,gnomAD
ITGB1	P05556	p.Tyr195Phe	rs1456594086	missense variant	-	NC_000010.11:g.32926073T>A	TOPMed
ITGB1	P05556	p.Ile196Val	rs781271545	missense variant	-	NC_000010.11:g.32926071T>C	ExAC,gnomAD
ITGB1	P05556	p.Ser197Asn	rs755190764	missense variant	-	NC_000010.11:g.32926067C>T	ExAC,gnomAD
ITGB1	P05556	p.Thr199Ile	rs1407408487	missense variant	-	NC_000010.11:g.32926061G>A	gnomAD
ITGB1	P05556	p.Ala201Val	rs199850705	missense variant	-	NC_000010.11:g.32926055G>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser209Gly	rs779878662	missense variant	-	NC_000010.11:g.32926032T>C	ExAC
ITGB1	P05556	p.Glu210Gly	rs758310780	missense variant	-	NC_000010.11:g.32926028T>C	ExAC,gnomAD
ITGB1	P05556	p.Cys213Tyr	rs1191383968	missense variant	-	NC_000010.11:g.32926019C>T	gnomAD
ITGB1	P05556	p.Thr214Ser	rs764787314	missense variant	-	NC_000010.11:g.32926016G>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Thr214Ala	rs1253206418	missense variant	-	NC_000010.11:g.32926017T>C	gnomAD
ITGB1	P05556	p.Phe217Cys	rs1309369889	missense variant	-	NC_000010.11:g.32926007A>C	TOPMed
ITGB1	P05556	p.Lys220Gln	rs1445063392	missense variant	-	NC_000010.11:g.32925999T>G	gnomAD
ITGB1	P05556	p.Ser224Asn	rs1283484385	missense variant	-	NC_000010.11:g.32925986C>T	gnomAD
ITGB1	P05556	p.Ser224Gly	rs1320522428	missense variant	-	NC_000010.11:g.32925987T>C	TOPMed
ITGB1	P05556	p.Asn227Asp	rs756772903	missense variant	-	NC_000010.11:g.32925978T>C	ExAC,gnomAD
ITGB1	P05556	p.Lys228Gln	rs753304128	missense variant	-	NC_000010.11:g.32925975T>G	ExAC,gnomAD
ITGB1	P05556	p.Asn233Ser	rs760351536	missense variant	-	NC_000010.11:g.32925959T>C	ExAC,gnomAD
ITGB1	P05556	p.Arg240His	rs371485643	missense variant	-	NC_000010.11:g.32925938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Arg240Cys	rs144269881	missense variant	-	NC_000010.11:g.32925939G>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile241Val	rs1361931611	missense variant	-	NC_000010.11:g.32925936T>C	gnomAD
ITGB1	P05556	p.Gly250Cys	rs1197751859	missense variant	-	NC_000010.11:g.32925909C>A	TOPMed
ITGB1	P05556	p.Met256Ile	rs748273558	missense variant	-	NC_000010.11:g.32925889C>T	ExAC,gnomAD
ITGB1	P05556	p.Met256Val	rs1395376963	missense variant	-	NC_000010.11:g.32925891T>C	gnomAD
ITGB1	P05556	p.Ala259Val	rs200018637	missense variant	-	NC_000010.11:g.32925881G>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val260Ala	rs1193852901	missense variant	-	NC_000010.11:g.32925878A>G	gnomAD
ITGB1	P05556	p.Arg272Gln	rs1331600283	missense variant	-	NC_000010.11:g.32923712C>T	gnomAD
ITGB1	P05556	p.Leu273Val	rs572817157	missense variant	-	NC_000010.11:g.32923710G>C	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Val275Leu	rs1395894985	missense variant	-	NC_000010.11:g.32923704C>A	TOPMed
ITGB1	P05556	p.Val275Met	rs1395894985	missense variant	-	NC_000010.11:g.32923704C>T	TOPMed
ITGB1	P05556	p.Val294Ile	rs1479690659	missense variant	-	NC_000010.11:g.32923647C>T	gnomAD
ITGB1	P05556	p.Asn297Ser	rs1232526206	missense variant	-	NC_000010.11:g.32923637T>C	gnomAD
ITGB1	P05556	p.Leu303Gln	rs754631231	missense variant	-	NC_000010.11:g.32923619A>T	ExAC,gnomAD
ITGB1	P05556	p.Asn305Ser	rs750871428	missense variant	-	NC_000010.11:g.32923613T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn306His	rs765668184	missense variant	-	NC_000010.11:g.32923611T>G	ExAC,gnomAD
ITGB1	P05556	p.Met307Thr	rs762480349	missense variant	-	NC_000010.11:g.32923607A>G	ExAC,gnomAD
ITGB1	P05556	p.Met307Ile	rs754358100	missense variant	-	NC_000010.11:g.32923606C>T	ExAC,gnomAD
ITGB1	P05556	p.Met310Val	rs764453276	missense variant	-	NC_000010.11:g.32923599T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Tyr313Phe	rs1354624433	missense variant	-	NC_000010.11:g.32923589T>A	TOPMed
ITGB1	P05556	p.Tyr314Cys	rs760814509	missense variant	-	NC_000010.11:g.32923586T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Tyr314Phe	rs760814509	missense variant	-	NC_000010.11:g.32923586T>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile319Val	rs201869797	missense variant	-	NC_000010.11:g.32922723T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val323Ala	rs1476371208	missense variant	-	NC_000010.11:g.32922710A>G	gnomAD
ITGB1	P05556	p.Gln324Glu	rs376146368	missense variant	-	NC_000010.11:g.32922708G>C	ESP
ITGB1	P05556	p.Lys325Thr	rs373692672	missense variant	-	NC_000010.11:g.32922704T>G	ESP,ExAC,gnomAD
ITGB1	P05556	p.Ser327Ile	rs1192033382	missense variant	-	NC_000010.11:g.32922698C>A	TOPMed
ITGB1	P05556	p.Ser327Thr	rs1192033382	missense variant	-	NC_000010.11:g.32922698C>G	TOPMed
ITGB1	P05556	p.Glu328Asp	rs370628530	missense variant	-	NC_000010.11:g.32922694T>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile334Thr	rs1345115648	missense variant	-	NC_000010.11:g.32922677A>G	gnomAD
ITGB1	P05556	p.Thr338Ile	rs1187458961	missense variant	-	NC_000010.11:g.32922665G>A	gnomAD
ITGB1	P05556	p.Thr338Pro	rs200759951	missense variant	-	NC_000010.11:g.32922666T>G	TOPMed,gnomAD
ITGB1	P05556	p.Gln342His	rs752813282	missense variant	-	NC_000010.11:g.32922652C>G	ExAC,gnomAD
ITGB1	P05556	p.Gln342His	rs752813282	missense variant	-	NC_000010.11:g.32922652C>A	ExAC,gnomAD
ITGB1	P05556	p.Pro343Leu	rs1158354537	missense variant	-	NC_000010.11:g.32922650G>A	TOPMed
ITGB1	P05556	p.Val344Ile	rs1293225428	missense variant	-	NC_000010.11:g.32922648C>T	gnomAD
ITGB1	P05556	p.Lys346Glu	rs114701235	missense variant	-	NC_000010.11:g.32922642T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Pro353Ala	rs764939409	missense variant	-	NC_000010.11:g.32922328G>C	ExAC,gnomAD
ITGB1	P05556	p.Ser355Ala	rs1412906406	missense variant	-	NC_000010.11:g.32922322A>C	TOPMed
ITGB1	P05556	p.Ala356Glu	rs761904105	missense variant	-	NC_000010.11:g.32922318G>T	ExAC,gnomAD
ITGB1	P05556	p.Val357Ala	rs1458060926	missense variant	-	NC_000010.11:g.32922315A>G	gnomAD
ITGB1	P05556	p.Thr359Arg	rs1226812252	missense variant	-	NC_000010.11:g.32922309G>C	TOPMed
ITGB1	P05556	p.Ala362Val	rs1259710150	missense variant	-	NC_000010.11:g.32922300G>A	gnomAD
ITGB1	P05556	p.Asn363Ser	rs768647991	missense variant	-	NC_000010.11:g.32922297T>C	ExAC,gnomAD
ITGB1	P05556	p.Asp373Gly	rs775092729	missense variant	-	NC_000010.11:g.32922267T>C	ExAC,gnomAD
ITGB1	P05556	p.Tyr375Cys	rs745501943	missense variant	-	NC_000010.11:g.32922261T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn376Asp	rs1401261988	missense variant	-	NC_000010.11:g.32922259T>C	gnomAD
ITGB1	P05556	p.Leu378Phe	rs1170802782	missense variant	-	NC_000010.11:g.32920382G>A	TOPMed
ITGB1	P05556	p.Ser379Phe	rs1284022746	missense variant	-	NC_000010.11:g.32920378G>A	TOPMed,gnomAD
ITGB1	P05556	p.Gly387Ser	rs201962041	missense variant	-	NC_000010.11:g.32920355C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Lys388Arg	rs775130521	missense variant	-	NC_000010.11:g.32920351T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser390Leu	rs1191171368	missense variant	-	NC_000010.11:g.32920345G>A	gnomAD
ITGB1	P05556	p.Ser390Pro	rs1407534184	missense variant	-	NC_000010.11:g.32920346A>G	gnomAD
ITGB1	P05556	p.Glu391Asp	rs1225880679	missense variant	-	NC_000010.11:g.32920341T>G	TOPMed
ITGB1	P05556	p.Glu391Gly	rs1157583804	missense variant	-	NC_000010.11:g.32920342T>C	TOPMed,gnomAD
ITGB1	P05556	p.Glu391Lys	rs1300948290	missense variant	-	NC_000010.11:g.32920343C>T	TOPMed
ITGB1	P05556	p.Val393Ile	rs199697979	missense variant	-	NC_000010.11:g.32920337C>T	1000Genomes,gnomAD
ITGB1	P05556	p.Val393Leu	rs199697979	missense variant	-	NC_000010.11:g.32920337C>A	1000Genomes,gnomAD
ITGB1	P05556	p.Ile395Val	rs200656381	missense variant	-	NC_000010.11:g.32920331T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser396Thr	rs199879048	missense variant	-	NC_000010.11:g.32920327C>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser396Asn	rs199879048	missense variant	-	NC_000010.11:g.32920327C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser396Arg	rs201578528	missense variant	-	NC_000010.11:g.32920326A>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Tyr400His	rs780241199	missense variant	-	NC_000010.11:g.32920316A>G	ExAC,gnomAD
ITGB1	P05556	p.Gly404Ala	rs1429851361	missense variant	-	NC_000010.11:g.32920303C>G	TOPMed
ITGB1	P05556	p.Gly404Arg	rs779035544	missense variant	-	NC_000010.11:g.32920304C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gly407Ala	rs1156928035	missense variant	-	NC_000010.11:g.32920294C>G	TOPMed
ITGB1	P05556	p.Gly409Val	rs907946164	missense variant	-	NC_000010.11:g.32920288C>A	TOPMed
ITGB1	P05556	p.Gly409Arg	rs763951778	missense variant	-	NC_000010.11:g.32920289C>T	ExAC,gnomAD
ITGB1	P05556	p.Arg413Ile	rs767421947	missense variant	-	NC_000010.11:g.32920276C>A	ExAC
ITGB1	P05556	p.Ser416Phe	rs571920234	missense variant	-	NC_000010.11:g.32920267G>A	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Asn417Ser	rs372397463	missense variant	-	NC_000010.11:g.32920264T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile420Thr	rs1298122818	missense variant	-	NC_000010.11:g.32920255A>G	gnomAD
ITGB1	P05556	p.Ile428Val	rs764807466	missense variant	-	NC_000010.11:g.32920072T>C	ExAC,gnomAD
ITGB1	P05556	p.Ser429Ile	rs11557912	missense variant	-	NC_000010.11:g.32920068C>A	TOPMed
ITGB1	P05556	p.Ser429Thr	rs11557912	missense variant	-	NC_000010.11:g.32920068C>G	TOPMed
ITGB1	P05556	p.Ser429Arg	rs760981561	missense variant	-	NC_000010.11:g.32920067G>T	ExAC,gnomAD
ITGB1	P05556	p.Ile430Val	rs775874993	missense variant	-	NC_000010.11:g.32920066T>C	ExAC,gnomAD
ITGB1	P05556	p.Ser432Leu	rs1383635424	missense variant	-	NC_000010.11:g.32920059G>A	TOPMed
ITGB1	P05556	p.Asn433Lys	rs1410851145	missense variant	-	NC_000010.11:g.32920055A>C	gnomAD
ITGB1	P05556	p.Lys437Glu	rs1399322556	missense variant	-	NC_000010.11:g.32920045T>C	TOPMed,gnomAD
ITGB1	P05556	p.Ser442Asn	rs1164692410	missense variant	-	NC_000010.11:g.32920029C>T	TOPMed
ITGB1	P05556	p.Phe443Ser	rs1429263257	missense variant	-	NC_000010.11:g.32920026A>G	gnomAD
ITGB1	P05556	p.Thr451Met	rs201228879	missense variant	-	NC_000010.11:g.32920002G>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu453Val	rs199980084	missense variant	-	NC_000010.11:g.32919996T>A	TOPMed
ITGB1	P05556	p.Glu453Gly	rs199980084	missense variant	-	NC_000010.11:g.32919996T>C	TOPMed
ITGB1	P05556	p.Val454Ala	rs543305169	missense variant	-	NC_000010.11:g.32919993A>G	1000Genomes
ITGB1	P05556	p.Val454Ile	rs1444065674	missense variant	-	NC_000010.11:g.32919994C>T	gnomAD
ITGB1	P05556	p.Glu455Lys	rs756354856	missense variant	-	NC_000010.11:g.32919991C>T	ExAC,gnomAD
ITGB1	P05556	p.Ile457Ser	rs1331843307	missense variant	-	NC_000010.11:g.32919984A>C	gnomAD
ITGB1	P05556	p.Cys464Arg	rs1380194121	missense variant	-	NC_000010.11:g.32919964A>G	TOPMed
ITGB1	P05556	p.Glu469Lys	rs754935937	missense variant	-	NC_000010.11:g.32919949C>T	ExAC,gnomAD
ITGB1	P05556	p.Ile471Leu	rs1315514997	missense variant	-	NC_000010.11:g.32919943T>G	TOPMed
ITGB1	P05556	p.Pro472Leu	rs1404856464	missense variant	-	NC_000010.11:g.32919939G>A	gnomAD
ITGB1	P05556	p.His478Arg	rs1275098280	missense variant	-	NC_000010.11:g.32919921T>C	TOPMed,gnomAD
ITGB1	P05556	p.Gly480Glu	rs1438109107	missense variant	-	NC_000010.11:g.32919915C>T	gnomAD
ITGB1	P05556	p.Phe484Leu	rs377263167	missense variant	-	NC_000010.11:g.32919904A>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ala488Thr	rs749899655	missense variant	-	NC_000010.11:g.32919892C>T	ExAC,gnomAD
ITGB1	P05556	p.Ala488Val	rs1009137692	missense variant	-	NC_000010.11:g.32919891G>A	TOPMed
ITGB1	P05556	p.Asn492Tyr	rs758287253	missense variant	-	NC_000010.11:g.32912120T>A	ExAC,gnomAD
ITGB1	P05556	p.Asn492Ser	rs749985371	missense variant	-	NC_000010.11:g.32912119T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu493Gly	rs778364434	missense variant	-	NC_000010.11:g.32912116T>C	ExAC,gnomAD
ITGB1	P05556	p.Arg495His	rs1376107293	missense variant	-	NC_000010.11:g.32912110C>T	TOPMed,gnomAD
ITGB1	P05556	p.Arg495Leu	rs1376107293	missense variant	-	NC_000010.11:g.32912110C>A	TOPMed,gnomAD
ITGB1	P05556	p.Arg495Cys	rs1455572744	missense variant	-	NC_000010.11:g.32912111G>A	gnomAD
ITGB1	P05556	p.Val496Ile	rs914643932	missense variant	-	NC_000010.11:g.32912108C>T	gnomAD
ITGB1	P05556	p.Arg498Ser	rs200455437	missense variant	-	NC_000010.11:g.32912100T>G	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.His499Arg	rs1487691064	missense variant	-	NC_000010.11:g.32912098T>C	gnomAD
ITGB1	P05556	p.Ser503Gly	rs1418466672	missense variant	-	NC_000010.11:g.32912087T>C	TOPMed
ITGB1	P05556	p.Asp505Tyr	rs1218127710	missense variant	-	NC_000010.11:g.32912081C>A	gnomAD
ITGB1	P05556	p.Met512Val	rs55976044	missense variant	-	NC_000010.11:g.32912060T>C	gnomAD
ITGB1	P05556	p.Met512Leu	rs55976044	missense variant	-	NC_000010.11:g.32912060T>G	gnomAD
ITGB1	P05556	p.Glu519Gly	rs759975539	missense variant	-	NC_000010.11:g.32912038T>C	ExAC,gnomAD
ITGB1	P05556	p.Glu519Gln	rs1276253145	missense variant	-	NC_000010.11:g.32912039C>G	gnomAD
ITGB1	P05556	p.Glu519Lys	rs1276253145	missense variant	-	NC_000010.11:g.32912039C>T	gnomAD
ITGB1	P05556	p.Ser526Asn	rs767041384	missense variant	-	NC_000010.11:g.32912017C>T	ExAC
ITGB1	P05556	p.Asn528Ser	rs201578077	missense variant	-	NC_000010.11:g.32912011T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val532Ile	rs202115007	missense variant	-	NC_000010.11:g.32912000C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gly534Arg	rs761744138	missense variant	-	NC_000010.11:g.32911994C>T	ExAC,gnomAD
ITGB1	P05556	p.Val537Phe	rs1270034180	missense variant	-	NC_000010.11:g.32911985C>A	TOPMed
ITGB1	P05556	p.Arg539Ser	rs1338861487	missense variant	-	NC_000010.11:g.32911977C>A	TOPMed
ITGB1	P05556	p.Arg539Lys	rs1424942339	missense variant	-	NC_000010.11:g.32911978C>T	gnomAD
ITGB1	P05556	p.Arg539Gly	rs1477803925	missense variant	-	NC_000010.11:g.32911979T>C	gnomAD
ITGB1	P05556	p.Asn543Asp	rs377042646	missense variant	-	NC_000010.11:g.32911967T>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn543His	rs377042646	missense variant	-	NC_000010.11:g.32911967T>G	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn543Thr	rs768724747	missense variant	-	NC_000010.11:g.32911966T>G	ExAC,gnomAD
ITGB1	P05556	p.Thr544Ile	rs746833541	missense variant	-	NC_000010.11:g.32911963G>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn545Asp	rs1470394100	missense variant	-	NC_000010.11:g.32911961T>C	gnomAD
ITGB1	P05556	p.Ile547Asn	rs1199396834	missense variant	-	NC_000010.11:g.32911954A>T	TOPMed
ITGB1	P05556	p.Lys551Arg	rs368864516	missense variant	-	NC_000010.11:g.32911942T>C	ESP,TOPMed
ITGB1	P05556	p.Lys551Thr	rs368864516	missense variant	-	NC_000010.11:g.32911942T>G	ESP,TOPMed
ITGB1	P05556	p.Glu554Lys	rs772037930	missense variant	-	NC_000010.11:g.32911934C>T	ExAC,gnomAD
ITGB1	P05556	p.Glu554Asp	rs374777966	missense variant	-	NC_000010.11:g.32911932C>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ser563Phe	rs1241344185	missense variant	-	NC_000010.11:g.32911906G>A	TOPMed
ITGB1	P05556	p.Asn564Ser	rs201792925	missense variant	-	NC_000010.11:g.32911903T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile567Thr	rs748704710	missense variant	-	NC_000010.11:g.32911894A>G	ExAC,gnomAD
ITGB1	P05556	p.Cys568Tyr	rs777503669	missense variant	-	NC_000010.11:g.32911891C>T	ExAC,gnomAD
ITGB1	P05556	p.Val573Ile	rs777117359	missense variant	-	NC_000010.11:g.32911662C>T	ExAC,gnomAD
ITGB1	P05556	p.Lys575Arg	rs199958656	missense variant	-	NC_000010.11:g.32911655T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Arg577His	rs201856355	missense variant	-	NC_000010.11:g.32911649C>T	TOPMed,gnomAD
ITGB1	P05556	p.Arg577Cys	rs1378099428	missense variant	-	NC_000010.11:g.32911650G>A	TOPMed,gnomAD
ITGB1	P05556	p.Glu580Asp	rs200815086	missense variant	-	NC_000010.11:g.32911639C>G	ExAC,gnomAD
ITGB1	P05556	p.Pro583Leu	rs144105498	missense variant	-	NC_000010.11:g.32911631G>A	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Pro583Ala	rs1445981420	missense variant	-	NC_000010.11:g.32911632G>C	TOPMed,gnomAD
ITGB1	P05556	p.Asn584Ser	rs1016123180	missense variant	-	NC_000010.11:g.32911628T>C	TOPMed
ITGB1	P05556	p.Asn584Lys	rs753990803	missense variant	-	NC_000010.11:g.32911627G>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Tyr585Ter	rs764080813	stop gained	-	NC_000010.11:g.32911624G>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gly587Asp	rs1456697974	missense variant	-	NC_000010.11:g.32911619C>T	TOPMed
ITGB1	P05556	p.Ser588Ile	rs1402621179	missense variant	-	NC_000010.11:g.32911616C>A	gnomAD
ITGB1	P05556	p.Ala589Val	rs1284172663	missense variant	-	NC_000010.11:g.32911613G>A	gnomAD
ITGB1	P05556	p.Asp591Val	rs775704852	missense variant	-	NC_000010.11:g.32911607T>A	ExAC,gnomAD
ITGB1	P05556	p.Ser593Cys	rs1281690625	missense variant	-	NC_000010.11:g.32911601G>C	gnomAD
ITGB1	P05556	p.Asp595His	rs199508465	missense variant	-	NC_000010.11:g.32911596C>G	ESP
ITGB1	P05556	p.Thr596Asn	rs767684488	missense variant	-	NC_000010.11:g.32911592G>T	ExAC,gnomAD
ITGB1	P05556	p.Ser597Gly	rs759345589	missense variant	-	NC_000010.11:g.32911590T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn603Ser	rs1165302915	missense variant	-	NC_000010.11:g.32911571T>C	TOPMed
ITGB1	P05556	p.Gly604Arg	rs200480675	missense variant	-	NC_000010.11:g.32911569C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gln605His	rs749178434	missense variant	-	NC_000010.11:g.32911564C>A	ExAC,gnomAD
ITGB1	P05556	p.Gln605Ter	rs1297236582	stop gained	-	NC_000010.11:g.32911566G>A	TOPMed,gnomAD
ITGB1	P05556	p.Gln605Lys	rs1297236582	missense variant	-	NC_000010.11:g.32911566G>T	TOPMed,gnomAD
ITGB1	P05556	p.Asn608Ser	rs1170655864	missense variant	-	NC_000010.11:g.32911556T>C	TOPMed,gnomAD
ITGB1	P05556	p.Gly611Val	rs1448624168	missense variant	-	NC_000010.11:g.32911547C>A	TOPMed
ITGB1	P05556	p.Glu614Val	rs1490869588	missense variant	-	NC_000010.11:g.32911538T>A	gnomAD
ITGB1	P05556	p.Glu614Lys	rs140200196	missense variant	-	NC_000010.11:g.32911539C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Cys615Tyr	rs768376224	missense variant	-	NC_000010.11:g.32911535C>T	ExAC,gnomAD
ITGB1	P05556	p.Val617Ile	rs746293620	missense variant	-	NC_000010.11:g.32911530C>T	ExAC,gnomAD
ITGB1	P05556	p.Thr621Ile	rs1242349659	missense variant	-	NC_000010.11:g.32911517G>A	TOPMed
ITGB1	P05556	p.Pro623Leu	rs147943624	missense variant	-	NC_000010.11:g.32911511G>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gln628His	rs1199095079	missense variant	-	NC_000010.11:g.32911495T>G	gnomAD
ITGB1	P05556	p.Thr629Met	rs201159705	missense variant	-	NC_000010.11:g.32911493G>A	ExAC,gnomAD
ITGB1	P05556	p.Met632Ile	rs1339053887	missense variant	-	NC_000010.11:g.32911483C>T	gnomAD
ITGB1	P05556	p.Met632Leu	rs1225851848	missense variant	-	NC_000010.11:g.32911485T>A	gnomAD
ITGB1	P05556	p.Gln634Arg	rs1256284140	missense variant	-	NC_000010.11:g.32911478T>C	TOPMed
ITGB1	P05556	p.Gln634His	rs918735678	missense variant	-	NC_000010.11:g.32911477C>G	gnomAD
ITGB1	P05556	p.Leu637Arg	rs200349597	missense variant	-	NC_000010.11:g.32911469A>C	gnomAD
ITGB1	P05556	p.Glu642Gln	rs1346665551	missense variant	-	NC_000010.11:g.32911455C>G	gnomAD
ITGB1	P05556	p.Lys644Glu	rs1459139024	missense variant	-	NC_000010.11:g.32911449T>C	TOPMed
ITGB1	P05556	p.Cys646Tyr	rs1282093413	missense variant	-	NC_000010.11:g.32910450C>T	gnomAD
ITGB1	P05556	p.Val647Ile	rs141385192	missense variant	-	NC_000010.11:g.32910448C>T	1000Genomes,ExAC,gnomAD
ITGB1	P05556	p.Phe652Leu	rs375572295	missense variant	-	NC_000010.11:g.32910433A>G	ESP,ExAC,gnomAD
ITGB1	P05556	p.Phe652Ser	rs778272545	missense variant	-	NC_000010.11:g.32910432A>G	ExAC
ITGB1	P05556	p.Asn653Asp	rs1019998537	missense variant	-	NC_000010.11:g.32910430T>C	TOPMed,gnomAD
ITGB1	P05556	p.Lys654Thr	rs1463859184	missense variant	-	NC_000010.11:g.32910426T>G	gnomAD
ITGB1	P05556	p.Gly655Glu	rs756589020	missense variant	-	NC_000010.11:g.32910423C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Gly655Arg	rs1399459473	missense variant	-	NC_000010.11:g.32910424C>T	gnomAD
ITGB1	P05556	p.Lys657Asn	rs200928291	missense variant	-	NC_000010.11:g.32910416C>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Lys657Glu	rs752811283	missense variant	-	NC_000010.11:g.32910418T>C	ExAC,gnomAD
ITGB1	P05556	p.Lys658Arg	rs139673287	missense variant	-	NC_000010.11:g.32910414T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp659Glu	rs751742962	missense variant	-	NC_000010.11:g.32910410G>C	ExAC,gnomAD
ITGB1	P05556	p.Thr662Ser	rs762685966	missense variant	-	NC_000010.11:g.32910403T>A	ExAC,gnomAD
ITGB1	P05556	p.Gln663Leu	rs1456670387	missense variant	-	NC_000010.11:g.32910399T>A	gnomAD
ITGB1	P05556	p.Cys665Arg	rs750195307	missense variant	-	NC_000010.11:g.32910394A>G	ExAC,gnomAD
ITGB1	P05556	p.Ser666Tyr	rs765315222	missense variant	-	NC_000010.11:g.32910390G>T	ExAC,gnomAD
ITGB1	P05556	p.Phe668Leu	rs1461519934	missense variant	-	NC_000010.11:g.32910385A>G	TOPMed
ITGB1	P05556	p.Asn669Tyr	rs1309745209	missense variant	-	NC_000010.11:g.32910382T>A	gnomAD
ITGB1	P05556	p.Ile670Thr	rs1359793308	missense variant	-	NC_000010.11:g.32910378A>G	gnomAD
ITGB1	P05556	p.Ile670Val	rs776347556	missense variant	-	NC_000010.11:g.32910379T>C	ExAC,gnomAD
ITGB1	P05556	p.Lys672Glu	rs1330009356	missense variant	-	NC_000010.11:g.32910373T>C	TOPMed
ITGB1	P05556	p.Lys672Arg	rs768272306	missense variant	-	NC_000010.11:g.32910372T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val673Glu	rs201866476	missense variant	-	NC_000010.11:g.32910369A>T	gnomAD
ITGB1	P05556	p.Val673Gly	rs201866476	missense variant	-	NC_000010.11:g.32910369A>C	gnomAD
ITGB1	P05556	p.Arg676Leu	rs199935806	missense variant	-	NC_000010.11:g.32910360C>A	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Arg676Trp	rs1298708463	missense variant	-	NC_000010.11:g.32910361G>A	gnomAD
ITGB1	P05556	p.Arg676Gln	rs199935806	missense variant	-	NC_000010.11:g.32910360C>T	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp677Tyr	rs1348029876	missense variant	-	NC_000010.11:g.32910358C>A	gnomAD
ITGB1	P05556	p.Leu679Ser	rs1162845308	missense variant	-	NC_000010.11:g.32910351A>G	TOPMed,gnomAD
ITGB1	P05556	p.Leu679Phe	rs201846400	missense variant	-	NC_000010.11:g.32910350T>G	ExAC,gnomAD
ITGB1	P05556	p.Asp686His	rs1256188347	missense variant	-	NC_000010.11:g.32910331C>G	TOPMed
ITGB1	P05556	p.Asp686Gly	rs1481767889	missense variant	-	NC_000010.11:g.32910330T>C	TOPMed
ITGB1	P05556	p.Lys694Arg	rs781620722	missense variant	-	NC_000010.11:g.32910306T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asp695Val	rs1190441625	missense variant	-	NC_000010.11:g.32910303T>A	TOPMed
ITGB1	P05556	p.Val696Ile	rs1490352943	missense variant	-	NC_000010.11:g.32910301C>T	TOPMed,gnomAD
ITGB1	P05556	p.Asp698Glu	rs1352492397	missense variant	-	NC_000010.11:g.32910293G>T	gnomAD
ITGB1	P05556	p.Asp698Asn	rs200536241	missense variant	-	NC_000010.11:g.32910295C>T	gnomAD
ITGB1	P05556	p.Asp698His	rs200536241	missense variant	-	NC_000010.11:g.32910295C>G	gnomAD
ITGB1	P05556	p.Phe701Leu	rs780160126	missense variant	-	NC_000010.11:g.32910284G>C	ExAC,gnomAD
ITGB1	P05556	p.Tyr702Cys	rs1370811577	missense variant	-	NC_000010.11:g.32910282T>C	TOPMed
ITGB1	P05556	p.Thr704Met	rs1365486007	missense variant	-	NC_000010.11:g.32910276G>A	TOPMed,gnomAD
ITGB1	P05556	p.Val707Met	rs750284821	missense variant	-	NC_000010.11:g.32910268C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Asn708Ser	rs765119067	missense variant	-	NC_000010.11:g.32910264T>C	ExAC,gnomAD
ITGB1	P05556	p.Asn711Asp	rs1418151629	missense variant	-	NC_000010.11:g.32910256T>C	gnomAD
ITGB1	P05556	p.Glu712Lys	rs373574635	missense variant	-	NC_000010.11:g.32910253C>T	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val715Ala	rs887343411	missense variant	-	NC_000010.11:g.32910243A>G	TOPMed
ITGB1	P05556	p.His716Gln	rs142520287	missense variant	-	NC_000010.11:g.32910239A>T	ESP,ExAC,gnomAD
ITGB1	P05556	p.Val718Glu	rs767111928	missense variant	-	NC_000010.11:g.32910234A>T	ExAC,gnomAD
ITGB1	P05556	p.Asn720Asp	rs1270459374	missense variant	-	NC_000010.11:g.32910229T>C	gnomAD
ITGB1	P05556	p.Pro721Ala	rs369508240	missense variant	-	NC_000010.11:g.32910226G>C	ESP,ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Glu722Asp	rs1209802271	missense variant	-	NC_000010.11:g.32908533C>G	TOPMed
ITGB1	P05556	p.Pro724Ala	rs200099735	missense variant	-	NC_000010.11:g.32908529G>C	ExAC,gnomAD
ITGB1	P05556	p.Thr725Pro	rs745881141	missense variant	-	NC_000010.11:g.32908526T>G	ExAC,gnomAD
ITGB1	P05556	p.Gly726Asp	rs779312239	missense variant	-	NC_000010.11:g.32908522C>T	ExAC,gnomAD
ITGB1	P05556	p.Ile729Val	rs771232092	missense variant	-	NC_000010.11:g.32908514T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile729Phe	rs771232092	missense variant	-	NC_000010.11:g.32908514T>A	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Ile729Met	rs749133019	missense variant	-	NC_000010.11:g.32908512G>C	ExAC,gnomAD
ITGB1	P05556	p.Ile732Val	rs201738777	missense variant	-	NC_000010.11:g.32908505T>C	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val733Ala	rs756060620	missense variant	-	NC_000010.11:g.32908501A>G	ExAC,gnomAD
ITGB1	P05556	p.Ala746Thr	rs1320213528	missense variant	-	NC_000010.11:g.32908463C>T	gnomAD
ITGB1	P05556	p.Leu748Pro	rs1210970724	missense variant	-	NC_000010.11:g.32908456A>G	TOPMed
ITGB1	P05556	p.Met755Leu	rs1453855258	missense variant	-	NC_000010.11:g.32908436T>G	TOPMed,gnomAD
ITGB1	P05556	p.Ile756Val	rs766068569	missense variant	-	NC_000010.11:g.32908433T>C	ExAC
ITGB1	P05556	p.Lys768Gln	rs1329951445	missense variant	-	NC_000010.11:g.32908397T>G	gnomAD
ITGB1	P05556	p.Glu769Ter	RCV000709687	frameshift	Neural tube defect (NTD)	NC_000010.11:g.32908399dup	ClinVar
ITGB1	P05556	p.Lys774Thr	rs1474589579	missense variant	-	NC_000010.11:g.32908378T>G	TOPMed
ITGB1	P05556	p.Thr777Met	rs1188493444	missense variant	-	NC_000010.11:g.32908369G>A	TOPMed
ITGB1	P05556	p.Val787Ile	rs775441007	missense variant	-	NC_000010.11:g.32901608C>T	ExAC,TOPMed,gnomAD
ITGB1	P05556	p.Val791Ile	rs745435441	missense variant	-	NC_000010.11:g.32901596C>T	ExAC,gnomAD
KRT18	P05783	p.Ser2Thr	rs369198778	missense variant	-	NC_000012.12:g.52949178G>C	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Phe3Cys	rs756991398	missense variant	-	NC_000012.12:g.52949181T>G	ExAC,gnomAD
KRT18	P05783	p.Thr4Ile	rs76301931	missense variant	-	NC_000012.12:g.52949184C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr4Ser	rs76301931	missense variant	-	NC_000012.12:g.52949184C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr4Ala	rs1241148678	missense variant	-	NC_000012.12:g.52949183A>G	gnomAD
KRT18	P05783	p.Arg6Cys	rs1270182586	missense variant	-	NC_000012.12:g.52949189C>T	TOPMed,gnomAD
KRT18	P05783	p.Ser7Tyr	rs775547844	missense variant	-	NC_000012.12:g.52949193C>A	ExAC,gnomAD
KRT18	P05783	p.Phe9Cys	rs945689746	missense variant	-	NC_000012.12:g.52949199T>G	TOPMed,gnomAD
KRT18	P05783	p.Thr11Ile	rs1381635123	missense variant	-	NC_000012.12:g.52949205C>T	gnomAD
KRT18	P05783	p.Thr11Ala	rs748718547	missense variant	-	NC_000012.12:g.52949204A>G	ExAC,gnomAD
KRT18	P05783	p.Tyr13Cys	rs1166470792	missense variant	-	NC_000012.12:g.52949211A>G	TOPMed
KRT18	P05783	p.Arg14Trp	rs766809169	missense variant	-	NC_000012.12:g.52949213C>T	ExAC,gnomAD
KRT18	P05783	p.Arg14Gln	rs777157164	missense variant	-	NC_000012.12:g.52949214G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser15Phe	rs1447813465	missense variant	-	NC_000012.12:g.52949217C>T	gnomAD
KRT18	P05783	p.Ser15Pro	rs753311520	missense variant	-	NC_000012.12:g.52949216T>C	ExAC,gnomAD
KRT18	P05783	p.Gly17Val	rs79476176	missense variant	-	NC_000012.12:g.52949223G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly17Asp	rs79476176	missense variant	-	NC_000012.12:g.52949223G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly17Arg	rs1239570081	missense variant	-	NC_000012.12:g.52949222G>C	gnomAD
KRT18	P05783	p.Ser18Tyr	rs147350452	missense variant	-	NC_000012.12:g.52949226C>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser18Thr	rs1479948631	missense variant	-	NC_000012.12:g.52949225T>A	TOPMed
KRT18	P05783	p.Ser18Cys	rs147350452	missense variant	-	NC_000012.12:g.52949226C>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Tyr24Cys	rs1307456366	missense variant	-	NC_000012.12:g.52949244A>G	TOPMed
KRT18	P05783	p.Tyr24Ter	rs1239572921	stop gained	-	NC_000012.12:g.52949245C>G	gnomAD
KRT18	P05783	p.Gly25Cys	rs750200705	missense variant	-	NC_000012.12:g.52949246G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly25Arg	rs750200705	missense variant	-	NC_000012.12:g.52949246G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly25Ser	rs750200705	missense variant	-	NC_000012.12:g.52949246G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala26Thr	rs78514003	missense variant	-	NC_000012.12:g.52949249G>A	TOPMed,gnomAD
KRT18	P05783	p.Arg27Pro	rs1368538220	missense variant	-	NC_000012.12:g.52949253G>C	gnomAD
KRT18	P05783	p.Arg27Trp	rs77825282	missense variant	-	NC_000012.12:g.52949252C>T	TOPMed,gnomAD
KRT18	P05783	p.Pro28Arg	rs74379840	missense variant	-	NC_000012.12:g.52949256C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Pro28Leu	COSM3871921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52949256C>T	NCI-TCGA Cosmic
KRT18	P05783	p.Pro28Gln	rs74379840	missense variant	-	NC_000012.12:g.52949256C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Val29Ile	rs1465913307	missense variant	-	NC_000012.12:g.52949258G>A	gnomAD
KRT18	P05783	p.Ser31Cys	rs1398440164	missense variant	-	NC_000012.12:g.52949264A>T	TOPMed,gnomAD
KRT18	P05783	p.Ser31Ile	rs374064321	missense variant	-	NC_000012.12:g.52949265G>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala32Ser	rs74953757	missense variant	-	NC_000012.12:g.52949267G>T	TOPMed,gnomAD
KRT18	P05783	p.Ala32Val	rs1297779360	missense variant	-	NC_000012.12:g.52949268C>T	TOPMed,gnomAD
KRT18	P05783	p.Ser34Arg	rs78343594	missense variant	-	NC_000012.12:g.52949275C>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser34Thr	rs1427838806	missense variant	-	NC_000012.12:g.52949274G>C	TOPMed
KRT18	P05783	p.Val35Ile	rs1243265591	missense variant	-	NC_000012.12:g.52949276G>A	gnomAD
KRT18	P05783	p.Tyr36His	rs1227971336	missense variant	-	NC_000012.12:g.52949279T>C	gnomAD
KRT18	P05783	p.Tyr36Ser	rs891346528	missense variant	-	NC_000012.12:g.52949280A>C	TOPMed,gnomAD
KRT18	P05783	p.Ala37Thr	rs1281260117	missense variant	-	NC_000012.12:g.52949282G>A	gnomAD
KRT18	P05783	p.Ala37Gly	rs1319072747	missense variant	-	NC_000012.12:g.52949283C>G	gnomAD
KRT18	P05783	p.Gly38Cys	rs77999286	missense variant	-	NC_000012.12:g.52949285G>T	TOPMed,gnomAD
KRT18	P05783	p.Gly38Ser	rs77999286	missense variant	-	NC_000012.12:g.52949285G>A	TOPMed,gnomAD
KRT18	P05783	p.Gly38Asp	rs1486318507	missense variant	-	NC_000012.12:g.52949286G>A	TOPMed
KRT18	P05783	p.Ala39Val	rs771828609	missense variant	-	NC_000012.12:g.52949289C>T	ExAC,gnomAD
KRT18	P05783	p.Gly40Arg	rs773038025	missense variant	-	NC_000012.12:g.52949291G>A	ExAC,gnomAD
KRT18	P05783	p.Gly41Ser	rs759814479	missense variant	-	NC_000012.12:g.52949294G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly41Ala	rs1256261258	missense variant	-	NC_000012.12:g.52949295G>C	gnomAD
KRT18	P05783	p.Gly41Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52949295G>A	NCI-TCGA
KRT18	P05783	p.Ser42Pro	rs770250195	missense variant	-	NC_000012.12:g.52949297T>C	ExAC,gnomAD
KRT18	P05783	p.Gly43Ser	rs75441140	missense variant	-	NC_000012.12:g.52949300G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly43Arg	rs75441140	missense variant	-	NC_000012.12:g.52949300G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly43Asp	rs1263244013	missense variant	-	NC_000012.12:g.52949301G>A	gnomAD
KRT18	P05783	p.Gly43Cys	rs75441140	missense variant	-	NC_000012.12:g.52949300G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser44Ala	rs763522746	missense variant	-	NC_000012.12:g.52949303T>G	ExAC,gnomAD
KRT18	P05783	p.Ser44Cys	rs1447084165	missense variant	-	NC_000012.12:g.52949304C>G	gnomAD
KRT18	P05783	p.Arg45Pro	RCV000049578	missense variant	Hepatitis c virus, susceptibility to	NC_000012.12:g.52949307G>C	ClinVar
KRT18	P05783	p.Arg45Trp	rs1478096062	missense variant	-	NC_000012.12:g.52949306C>T	TOPMed,gnomAD
KRT18	P05783	p.Arg45Pro	rs200221269	missense variant	-	NC_000012.12:g.52949307G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile46Phe	rs760412718	missense variant	-	NC_000012.12:g.52949309A>T	ExAC,gnomAD
KRT18	P05783	p.Ile46Leu	rs760412718	missense variant	-	NC_000012.12:g.52949309A>C	ExAC,gnomAD
KRT18	P05783	p.Ser47Phe	rs1452035555	missense variant	-	NC_000012.12:g.52949313C>T	TOPMed
KRT18	P05783	p.Val48Ala	rs761933454	missense variant	-	NC_000012.12:g.52949316T>C	ExAC,gnomAD
KRT18	P05783	p.Val48Leu	rs1359140246	missense variant	-	NC_000012.12:g.52949315G>C	TOPMed,gnomAD
KRT18	P05783	p.Val48Met	rs1359140246	missense variant	-	NC_000012.12:g.52949315G>A	TOPMed,gnomAD
KRT18	P05783	p.Arg50Cys	rs78479490	missense variant	-	NC_000012.12:g.52949321C>T	TOPMed,gnomAD
KRT18	P05783	p.Arg50Leu	rs11551633	missense variant	-	NC_000012.12:g.52949322G>T	ExAC,gnomAD
KRT18	P05783	p.Ser51Phe	rs1394324153	missense variant	-	NC_000012.12:g.52949325C>T	gnomAD
KRT18	P05783	p.Thr52Ile	rs1333552689	missense variant	-	NC_000012.12:g.52949328C>T	gnomAD
KRT18	P05783	p.Ser53Gly	rs1341730231	missense variant	-	NC_000012.12:g.52949330A>G	gnomAD
KRT18	P05783	p.Phe54Leu	rs750714548	missense variant	-	NC_000012.12:g.52949333T>C	ExAC
KRT18	P05783	p.Phe54Ser	rs1429253751	missense variant	-	NC_000012.12:g.52949334T>C	TOPMed
KRT18	P05783	p.Phe54Cys	rs1429253751	missense variant	-	NC_000012.12:g.52949334T>G	TOPMed
KRT18	P05783	p.Arg55Trp	rs78718957	missense variant	-	NC_000012.12:g.52949336A>T	TOPMed,gnomAD
KRT18	P05783	p.Arg55Thr	rs755849994	missense variant	-	NC_000012.12:g.52949337G>C	ExAC
KRT18	P05783	p.Gly56Asp	rs76183244	missense variant	-	NC_000012.12:g.52949340G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly57Cys	rs753674663	missense variant	-	NC_000012.12:g.52949342G>T	ExAC,gnomAD
KRT18	P05783	p.Gly59Arg	rs1317616802	missense variant	-	NC_000012.12:g.52949348G>A	TOPMed,gnomAD
KRT18	P05783	p.Gly59Trp	rs1317616802	missense variant	-	NC_000012.12:g.52949348G>T	TOPMed,gnomAD
KRT18	P05783	p.Gly59Glu	rs1226267547	missense variant	-	NC_000012.12:g.52949349G>A	gnomAD
KRT18	P05783	p.Gly59Val	rs1226267547	missense variant	-	NC_000012.12:g.52949349G>T	gnomAD
KRT18	P05783	p.Ser60Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52949352C>A	NCI-TCGA
KRT18	P05783	p.Gly61Trp	rs779038487	missense variant	-	NC_000012.12:g.52949354G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly61Arg	COSM1362617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52949354G>A	NCI-TCGA Cosmic
KRT18	P05783	p.Gly61Arg	rs779038487	missense variant	-	NC_000012.12:g.52949354G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly62Ser	rs747629868	missense variant	-	NC_000012.12:g.52949357G>A	ExAC,gnomAD
KRT18	P05783	p.Ala64Gly	rs1216443356	missense variant	-	NC_000012.12:g.52949364C>G	TOPMed,gnomAD
KRT18	P05783	p.Thr65Ile	rs1463167645	missense variant	-	NC_000012.12:g.52949367C>T	gnomAD
KRT18	P05783	p.Gly66Arg	rs777553435	missense variant	-	NC_000012.12:g.52949369G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile67Met	rs77364359	missense variant	-	NC_000012.12:g.52949374A>G	TOPMed,gnomAD
KRT18	P05783	p.Ala68Thr	rs1260779156	missense variant	-	NC_000012.12:g.52949375G>A	TOPMed,gnomAD
KRT18	P05783	p.Ala68Ser	rs1260779156	missense variant	-	NC_000012.12:g.52949375G>T	TOPMed,gnomAD
KRT18	P05783	p.Gly69Arg	rs11551624	missense variant	-	NC_000012.12:g.52949378G>A	gnomAD
KRT18	P05783	p.Gly69Trp	rs11551624	missense variant	-	NC_000012.12:g.52949378G>T	gnomAD
KRT18	P05783	p.Gly69Ala	rs532875586	missense variant	-	NC_000012.12:g.52949379G>C	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly70Asp	rs1172136071	missense variant	-	NC_000012.12:g.52949382G>A	gnomAD
KRT18	P05783	p.Ala72Ser	rs1424932919	missense variant	-	NC_000012.12:g.52949387G>T	gnomAD
KRT18	P05783	p.Gly73Arg	rs1402412772	missense variant	-	NC_000012.12:g.52949390G>A	gnomAD
KRT18	P05783	p.Met74Thr	rs1462527970	missense variant	-	NC_000012.12:g.52949394T>C	TOPMed
KRT18	P05783	p.Met74Leu	COSM1299561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52949393A>T	NCI-TCGA Cosmic
KRT18	P05783	p.Gly75Arg	rs1420009357	missense variant	-	NC_000012.12:g.52949396G>C	gnomAD
KRT18	P05783	p.Gly75Arg	COSM4042952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52949396G>A	NCI-TCGA Cosmic
KRT18	P05783	p.Gly76Arg	rs1372602238	missense variant	-	NC_000012.12:g.52949399G>C	TOPMed
KRT18	P05783	p.Ile77Thr	rs1340333805	missense variant	-	NC_000012.12:g.52949403T>C	gnomAD
KRT18	P05783	p.Asn79Asp	rs1161922697	missense variant	-	NC_000012.12:g.52949408A>G	gnomAD
KRT18	P05783	p.Glu80Lys	rs199572098	missense variant	-	NC_000012.12:g.52949411G>A	TOPMed,gnomAD
KRT18	P05783	p.Glu82Lys	rs774882680	missense variant	-	NC_000012.12:g.52949417G>A	ExAC,gnomAD
KRT18	P05783	p.Met84Ile	rs79346135	missense variant	-	NC_000012.12:g.52949425G>A	TOPMed,gnomAD
KRT18	P05783	p.Ser86Thr	rs1188380011	missense variant	-	NC_000012.12:g.52949430G>C	TOPMed
KRT18	P05783	p.Asp89Asn	COSM431366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52949438G>A	NCI-TCGA Cosmic
KRT18	P05783	p.Arg90Cys	rs1397020078	missense variant	-	NC_000012.12:g.52949441C>T	TOPMed,gnomAD
KRT18	P05783	p.Ala92Pro	rs1434610693	missense variant	-	NC_000012.12:g.52949447G>C	TOPMed,gnomAD
KRT18	P05783	p.Ser93Pro	rs551257529	missense variant	-	NC_000012.12:g.52949450T>C	1000Genomes
KRT18	P05783	p.Asp96Asn	rs1191605617	missense variant	-	NC_000012.12:g.52949459G>A	gnomAD
KRT18	P05783	p.Arg99Ser	rs760985349	missense variant	-	NC_000012.12:g.52949470G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser100Arg	rs796361379	missense variant	-	NC_000012.12:g.52949473C>G	TOPMed,gnomAD
KRT18	P05783	p.Glu102Val	rs144926827	missense variant	-	NC_000012.12:g.52949478A>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr103Asn	rs1273250739	missense variant	-	NC_000012.12:g.52949481C>A	TOPMed,gnomAD
KRT18	P05783	p.Thr103Ser	rs1273250739	missense variant	-	NC_000012.12:g.52949481C>G	TOPMed,gnomAD
KRT18	P05783	p.Thr103Ala	rs61136606	missense variant	-	NC_000012.12:g.52949480A>G	ExAC,gnomAD
KRT18	P05783	p.Thr103Ala	rs61136606	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52949480A>G	UniProt,dbSNP
KRT18	P05783	p.Thr103Ala	VAR_023054	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52949480A>G	UniProt
KRT18	P05783	p.Thr103Ala	RCV000056434	missense variant	-	NC_000012.12:g.52949480A>G	ClinVar
KRT18	P05783	p.Glu104Gly	rs1218968384	missense variant	-	NC_000012.12:g.52949484A>G	gnomAD
KRT18	P05783	p.Glu104Asp	rs1164534748	missense variant	-	NC_000012.12:g.52949485G>C	TOPMed
KRT18	P05783	p.Glu104Ter	rs1418823110	stop gained	-	NC_000012.12:g.52949483G>T	TOPMed
KRT18	P05783	p.Arg106Trp	rs11551638	missense variant	-	NC_000012.12:g.52949489C>T	TOPMed,gnomAD
KRT18	P05783	p.Arg106Leu	rs765260052	missense variant	-	NC_000012.12:g.52949490G>T	ExAC,gnomAD
KRT18	P05783	p.Ser110Thr	rs752738391	missense variant	-	NC_000012.12:g.52949502G>C	ExAC,gnomAD
KRT18	P05783	p.Ser110Gly	rs1360506073	missense variant	-	NC_000012.12:g.52949501A>G	gnomAD
KRT18	P05783	p.Arg113Trp	rs777429135	missense variant	-	NC_000012.12:g.52949510C>T	ExAC
KRT18	P05783	p.His115Leu	rs1481173368	missense variant	-	NC_000012.12:g.52949517A>T	gnomAD
KRT18	P05783	p.Glu117Lys	rs1241736628	missense variant	-	NC_000012.12:g.52949522G>A	gnomAD
KRT18	P05783	p.Lys118Asn	rs749637522	missense variant	-	NC_000012.12:g.52949527G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Lys119Arg	rs147945345	missense variant	-	NC_000012.12:g.52949529A>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Lys119Asn	rs1222130911	missense variant	-	NC_000012.12:g.52949530G>C	gnomAD
KRT18	P05783	p.Gly120Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52949532G>A	NCI-TCGA
KRT18	P05783	p.Pro121Ser	rs796088051	missense variant	-	NC_000012.12:g.52949534C>T	TOPMed,gnomAD
KRT18	P05783	p.Gln122Pro	rs1420153393	missense variant	-	NC_000012.12:g.52949538A>C	TOPMed,gnomAD
KRT18	P05783	p.Val123Ala	rs748671089	missense variant	-	NC_000012.12:g.52949541T>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Val123Asp	rs748671089	missense variant	-	NC_000012.12:g.52949541T>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp125His	rs772097116	missense variant	-	NC_000012.12:g.52949546G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Trp126Cys	rs140324943	missense variant	-	NC_000012.12:g.52949551G>T	1000Genomes,ExAC,gnomAD
KRT18	P05783	p.Trp126Arg	rs1213337755	missense variant	-	NC_000012.12:g.52949549T>A	gnomAD
KRT18	P05783	p.His128Leu	rs57758506	missense variant	-	NC_000012.12:g.52949556A>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.His128Leu	rs57758506	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52949556A>T	UniProt,dbSNP
KRT18	P05783	p.His128Leu	VAR_003852	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52949556A>T	UniProt
KRT18	P05783	p.His128Leu	RCV000015687	missense variant	Cirrhosis, noncryptogenic, susceptibility to	NC_000012.12:g.52949556A>T	ClinVar
KRT18	P05783	p.Ile132Thr	rs1442739455	missense variant	-	NC_000012.12:g.52949568T>C	TOPMed,gnomAD
KRT18	P05783	p.Ile133Met	rs1348614728	missense variant	-	NC_000012.12:g.52949572C>G	TOPMed,gnomAD
KRT18	P05783	p.Glu134Gln	rs1227737710	missense variant	-	NC_000012.12:g.52949573G>C	TOPMed,gnomAD
KRT18	P05783	p.Arg137Trp	rs759391099	missense variant	-	NC_000012.12:g.52949582A>T	ExAC,gnomAD
KRT18	P05783	p.Ala138Thr	rs766333046	missense variant	-	NC_000012.12:g.52949585G>A	ExAC,gnomAD
KRT18	P05783	p.Gln139Arg	rs955495297	missense variant	-	NC_000012.12:g.52949589A>G	TOPMed,gnomAD
KRT18	P05783	p.Ile140Val	rs1451370716	missense variant	-	NC_000012.12:g.52950328A>G	gnomAD
KRT18	P05783	p.Phe141Leu	rs745911935	missense variant	-	NC_000012.12:g.52950333C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala142Thr	rs770066827	missense variant	-	NC_000012.12:g.52950334G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp146Val	rs768434116	missense variant	-	NC_000012.12:g.52950347A>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp146His	rs749538159	missense variant	-	NC_000012.12:g.52950346G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp146Gly	rs768434116	missense variant	-	NC_000012.12:g.52950347A>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp146Asn	rs749538159	missense variant	-	NC_000012.12:g.52950346G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asn147Thr	rs1342840924	missense variant	-	NC_000012.12:g.52950350A>C	gnomAD
KRT18	P05783	p.Arg149His	rs200694483	missense variant	-	NC_000012.12:g.52950356G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg149Cys	rs1293064587	missense variant	-	NC_000012.12:g.52950355C>T	gnomAD
KRT18	P05783	p.Arg149Leu	rs200694483	missense variant	-	NC_000012.12:g.52950356G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile150Met	rs771870687	missense variant	-	NC_000012.12:g.52950360C>G	ExAC
KRT18	P05783	p.Ile150Val	rs59979366	missense variant	-	NC_000012.12:g.52950358A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile150Val	RCV000056437	missense variant	-	NC_000012.12:g.52950358A>G	ClinVar
KRT18	P05783	p.Val151Ile	rs1252659630	missense variant	-	NC_000012.12:g.52950361G>A	gnomAD
KRT18	P05783	p.Ile154Thr	rs1194791264	missense variant	-	NC_000012.12:g.52950371T>C	TOPMed,gnomAD
KRT18	P05783	p.Asp155Glu	rs1253749291	missense variant	-	NC_000012.12:g.52950375C>A	TOPMed
KRT18	P05783	p.Asn156Ser	rs760161076	missense variant	-	NC_000012.12:g.52950377A>G	ExAC,gnomAD
KRT18	P05783	p.Ala157Thr	rs776198491	missense variant	-	NC_000012.12:g.52950379G>A	ExAC,gnomAD
KRT18	P05783	p.Arg158Gly	rs553275094	missense variant	-	NC_000012.12:g.52950382C>G	ExAC,gnomAD
KRT18	P05783	p.Arg158His	rs369948432	missense variant	-	NC_000012.12:g.52950383G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg158Cys	rs553275094	missense variant	-	NC_000012.12:g.52950382C>T	ExAC,gnomAD
KRT18	P05783	p.Leu159Ile	rs1277229176	missense variant	-	NC_000012.12:g.52950385C>A	TOPMed
KRT18	P05783	p.Ala161Thr	rs11551626	missense variant	-	NC_000012.12:g.52950391G>A	gnomAD
KRT18	P05783	p.Ala161Ser	rs11551626	missense variant	-	NC_000012.12:g.52950391G>T	gnomAD
KRT18	P05783	p.Arg165Thr	rs898492782	missense variant	-	NC_000012.12:g.52950404G>C	TOPMed,gnomAD
KRT18	P05783	p.Lys167Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52950409A>G	NCI-TCGA
KRT18	P05783	p.Tyr168Cys	rs1372689032	missense variant	-	NC_000012.12:g.52950752A>G	gnomAD
KRT18	P05783	p.Ala173Gly	rs777576325	missense variant	-	NC_000012.12:g.52950767C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala173Pro	rs758121818	missense variant	-	NC_000012.12:g.52950766G>C	ExAC,gnomAD
KRT18	P05783	p.Arg175Cys	rs746898922	missense variant	-	NC_000012.12:g.52950772C>T	ExAC,gnomAD
KRT18	P05783	p.Arg175Leu	rs1217770008	missense variant	-	NC_000012.12:g.52950773G>T	TOPMed,gnomAD
KRT18	P05783	p.Arg175His	rs1217770008	missense variant	-	NC_000012.12:g.52950773G>A	TOPMed,gnomAD
KRT18	P05783	p.Gln176Arg	rs781231306	missense variant	-	NC_000012.12:g.52950776A>G	ExAC,gnomAD
KRT18	P05783	p.Ser177Phe	rs1217896141	missense variant	-	NC_000012.12:g.52950779C>T	TOPMed
KRT18	P05783	p.Val178Met	rs1171935393	missense variant	-	NC_000012.12:g.52950781G>A	gnomAD
KRT18	P05783	p.Asp181Glu	rs774948895	missense variant	-	NC_000012.12:g.52950792C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile182Thr	rs762675185	missense variant	-	NC_000012.12:g.52950794T>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Leu185Phe	rs1421413412	missense variant	-	NC_000012.12:g.52950802C>T	gnomAD
KRT18	P05783	p.Arg186His	rs773737254	missense variant	-	NC_000012.12:g.52950806G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg186Cys	rs772530106	missense variant	-	NC_000012.12:g.52950805C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Val188Ile	rs1295633602	missense variant	-	NC_000012.12:g.52950811G>A	gnomAD
KRT18	P05783	p.Asp190Tyr	rs1274432464	missense variant	-	NC_000012.12:g.52950817G>T	TOPMed
KRT18	P05783	p.Asn193Ser	rs1434595201	missense variant	-	NC_000012.12:g.52950827A>G	TOPMed
KRT18	P05783	p.Asn193Asp	rs11170343	missense variant	-	NC_000012.12:g.52950826A>G	ExAC,gnomAD
KRT18	P05783	p.Thr195Ile	rs1329069794	missense variant	-	NC_000012.12:g.52950833C>T	TOPMed
KRT18	P05783	p.Arg196Gln	rs903529010	missense variant	-	NC_000012.12:g.52950836G>A	TOPMed,gnomAD
KRT18	P05783	p.Glu200Gly	rs146788536	missense variant	-	NC_000012.12:g.52950848A>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu202Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.52950853G>T	NCI-TCGA
KRT18	P05783	p.Ile203Phe	rs1296302277	missense variant	-	NC_000012.12:g.52950856A>T	TOPMed
KRT18	P05783	p.Ile203Ser	rs770760404	missense variant	-	NC_000012.12:g.52950857T>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu204Lys	rs1467314647	missense variant	-	NC_000012.12:g.52950859G>A	gnomAD
KRT18	P05783	p.Glu204Gln	COSM4831855	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52950859G>C	NCI-TCGA Cosmic
KRT18	P05783	p.Glu204Gly	rs1213240462	missense variant	-	NC_000012.12:g.52950860A>G	gnomAD
KRT18	P05783	p.Ala205Thr	rs1171566992	missense variant	-	NC_000012.12:g.52950862G>A	TOPMed
KRT18	P05783	p.Ala205Val	COSM299289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52950863C>T	NCI-TCGA Cosmic
KRT18	P05783	p.Lys207Arg	rs542816796	missense variant	-	NC_000012.12:g.52950869A>G	1000Genomes,TOPMed
KRT18	P05783	p.Glu208Val	rs1488193972	missense variant	-	NC_000012.12:g.52950872A>T	TOPMed
KRT18	P05783	p.Glu209Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52950874G>A	NCI-TCGA
KRT18	P05783	p.Phe212Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52950884T>C	NCI-TCGA
KRT18	P05783	p.Met213Thr	rs1213666438	missense variant	-	NC_000012.12:g.52950887T>C	TOPMed
KRT18	P05783	p.Asn216Ser	rs1416055882	missense variant	-	NC_000012.12:g.52950896A>G	gnomAD
KRT18	P05783	p.Glu218Lys	rs375823747	missense variant	-	NC_000012.12:g.52950901G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu219Gly	rs531597374	missense variant	-	NC_000012.12:g.52950905A>G	1000Genomes,ExAC,gnomAD
KRT18	P05783	p.Lys222Glu	rs760118857	missense variant	-	NC_000012.12:g.52951487A>G	ExAC,gnomAD
KRT18	P05783	p.Gly223Asp	rs752798433	missense variant	-	NC_000012.12:g.52951491G>A	ExAC,gnomAD
KRT18	P05783	p.Gly223Ser	rs765181291	missense variant	-	NC_000012.12:g.52951490G>A	ExAC,gnomAD
KRT18	P05783	p.Ala226Val	rs1311227284	missense variant	-	NC_000012.12:g.52951500C>T	TOPMed
KRT18	P05783	p.Ala226Thr	rs763059508	missense variant	-	NC_000012.12:g.52951499G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gln227Pro	rs1312796330	missense variant	-	NC_000012.12:g.52951503A>C	gnomAD
KRT18	P05783	p.Ile228Met	rs11551639	missense variant	-	NC_000012.12:g.52951507T>G	-
KRT18	P05783	p.Ile228Thr	rs764298430	missense variant	-	NC_000012.12:g.52951506T>C	ExAC,gnomAD
KRT18	P05783	p.Ala229Pro	rs1278862013	missense variant	-	NC_000012.12:g.52951508G>C	gnomAD
KRT18	P05783	p.Ser230Thr	rs58472472	missense variant	-	NC_000012.12:g.52951512G>C	UniProt,dbSNP
KRT18	P05783	p.Ser230Thr	VAR_023055	missense variant	-	NC_000012.12:g.52951512G>C	UniProt
KRT18	P05783	p.Ser230Thr	rs58472472	missense variant	-	NC_000012.12:g.52951512G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser230Thr	RCV000056439	missense variant	-	NC_000012.12:g.52951512G>C	ClinVar
KRT18	P05783	p.Ser231Pro	rs1048221713	missense variant	-	NC_000012.12:g.52951514T>C	TOPMed,gnomAD
KRT18	P05783	p.Val235Met	rs756101711	missense variant	-	NC_000012.12:g.52951526G>A	ExAC,gnomAD
KRT18	P05783	p.Glu236Lys	COSM1719322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52951529G>A	NCI-TCGA Cosmic
KRT18	P05783	p.Asp238Glu	rs779909524	missense variant	-	NC_000012.12:g.52951537T>G	ExAC,gnomAD
KRT18	P05783	p.Asp238Glu	rs779909524	missense variant	-	NC_000012.12:g.52951537T>A	ExAC,gnomAD
KRT18	P05783	p.Asp238Asn	COSM3871922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52951535G>A	NCI-TCGA Cosmic
KRT18	P05783	p.Lys241Arg	rs1174953357	missense variant	-	NC_000012.12:g.52951545A>G	TOPMed,gnomAD
KRT18	P05783	p.Lys241Thr	rs1174953357	missense variant	-	NC_000012.12:g.52951545A>C	TOPMed,gnomAD
KRT18	P05783	p.Ser242Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52951548C>A	NCI-TCGA
KRT18	P05783	p.Asp244Val	rs1303490294	missense variant	-	NC_000012.12:g.52951554A>T	TOPMed
KRT18	P05783	p.Ala246Thr	rs748780372	missense variant	-	NC_000012.12:g.52951559G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala246Asp	COSM1299562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52951560C>A	NCI-TCGA Cosmic
KRT18	P05783	p.Lys247Arg	rs1318727866	missense variant	-	NC_000012.12:g.52951563A>G	gnomAD
KRT18	P05783	p.Ile248Thr	rs1173135661	missense variant	-	NC_000012.12:g.52951566T>C	TOPMed
KRT18	P05783	p.Met249Ile	rs191325805	missense variant	-	NC_000012.12:g.52951570G>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala250Thr	rs778646111	missense variant	-	NC_000012.12:g.52951571G>A	ExAC,gnomAD
KRT18	P05783	p.Ile252Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52951577A>G	NCI-TCGA
KRT18	P05783	p.Arg253Gln	rs747804954	missense variant	-	NC_000012.12:g.52951581G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg253Trp	COSM3398837	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52951580C>T	NCI-TCGA Cosmic
KRT18	P05783	p.Glu258Lys	rs1347876514	missense variant	-	NC_000012.12:g.52951595G>A	TOPMed,gnomAD
KRT18	P05783	p.Ala260Pro	rs925098058	missense variant	-	NC_000012.12:g.52951601G>C	TOPMed
KRT18	P05783	p.Arg261Gln	RCV000056440	missense variant	-	NC_000012.12:g.52951605G>A	ClinVar
KRT18	P05783	p.Arg261Gln	rs57354642	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52951605G>A	UniProt,dbSNP
KRT18	P05783	p.Arg261Gln	VAR_023056	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52951605G>A	UniProt
KRT18	P05783	p.Arg261Gln	rs57354642	missense variant	-	NC_000012.12:g.52951605G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg261Trp	rs776044211	missense variant	-	NC_000012.12:g.52951604C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asn263Lys	rs11551643	missense variant	-	NC_000012.12:g.52951612C>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg264Ter	rs774491952	stop gained	-	NC_000012.12:g.52951613C>T	ExAC,gnomAD
KRT18	P05783	p.Arg264Gln	rs762129501	missense variant	-	NC_000012.12:g.52951614G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu265Asp	rs767170853	missense variant	-	NC_000012.12:g.52951618G>C	ExAC,gnomAD
KRT18	P05783	p.Glu266Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52951620A>T	NCI-TCGA
KRT18	P05783	p.Asp268Glu	rs1217251308	missense variant	-	NC_000012.12:g.52951627C>A	TOPMed
KRT18	P05783	p.Asp268Gly	rs755905707	missense variant	-	NC_000012.12:g.52951626A>G	ExAC,gnomAD
KRT18	P05783	p.Lys269Asn	rs766324065	missense variant	-	NC_000012.12:g.52951630G>C	ExAC,gnomAD
KRT18	P05783	p.Ser272Phe	rs1314118024	missense variant	-	NC_000012.12:g.52951638C>T	TOPMed
KRT18	P05783	p.Ile275Met	COSM1299563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52951733T>G	NCI-TCGA Cosmic
KRT18	P05783	p.Ile275Thr	rs565940319	missense variant	-	NC_000012.12:g.52951732T>C	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu276Gly	rs61696408	missense variant	-	NC_000012.12:g.52951735A>G	-
KRT18	P05783	p.Glu276Gln	COSM3812345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52951734G>C	NCI-TCGA Cosmic
KRT18	P05783	p.Glu276Gly	RCV000056441	missense variant	-	NC_000012.12:g.52951735A>G	ClinVar
KRT18	P05783	p.Glu277Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52951737G>C	NCI-TCGA
KRT18	P05783	p.Val281Leu	rs766276909	missense variant	-	NC_000012.12:g.52951749G>C	ExAC,gnomAD
KRT18	P05783	p.Val282Phe	rs754985586	missense variant	-	NC_000012.12:g.52951752G>T	ExAC,gnomAD
KRT18	P05783	p.Gln285Arg	RCV000056442	missense variant	-	NC_000012.12:g.52951762A>G	ClinVar
KRT18	P05783	p.Gln285Arg	rs59112368	missense variant	-	NC_000012.12:g.52951762A>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser286Tyr	COSM4607556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52951765C>A	NCI-TCGA Cosmic
KRT18	P05783	p.Ala287Val	rs1294310136	missense variant	-	NC_000012.12:g.52951768C>T	gnomAD
KRT18	P05783	p.Ala292Thr	rs1266499407	missense variant	-	NC_000012.12:g.52951782G>A	TOPMed
KRT18	P05783	p.Thr294Met	rs1355185338	missense variant	-	NC_000012.12:g.52951789C>T	gnomAD
KRT18	P05783	p.Thr294Ala	rs757912166	missense variant	-	NC_000012.12:g.52951788A>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr295Met	rs267607418	missense variant	-	NC_000012.12:g.52951792C>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr295Met	RCV000056443	missense variant	-	NC_000012.12:g.52951792C>T	ClinVar
KRT18	P05783	p.Thr295Lys	rs267607418	missense variant	-	NC_000012.12:g.52951792C>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Leu296Pro	rs1180938510	missense variant	-	NC_000012.12:g.52951795T>C	gnomAD
KRT18	P05783	p.Thr297Ile	RCV000056444	missense variant	-	NC_000012.12:g.52951798C>T	ClinVar
KRT18	P05783	p.Thr297Ile	rs115810585	missense variant	-	NC_000012.12:g.52951798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg300Thr	rs749749094	missense variant	-	NC_000012.12:g.52951807G>C	ExAC,gnomAD
KRT18	P05783	p.Arg300Gly	rs1185499795	missense variant	-	NC_000012.12:g.52951806A>G	gnomAD
KRT18	P05783	p.Arg301His	rs1169724462	missense variant	-	NC_000012.12:g.52951810G>A	TOPMed,gnomAD
KRT18	P05783	p.Arg301Cys	rs932515816	missense variant	-	NC_000012.12:g.52951809C>T	gnomAD
KRT18	P05783	p.Thr302Ile	rs769132516	missense variant	-	NC_000012.12:g.52951813C>T	ExAC,gnomAD
KRT18	P05783	p.Ser305Phe	rs1457337517	missense variant	-	NC_000012.12:g.52951822C>T	TOPMed
KRT18	P05783	p.Ser305Thr	rs779439842	missense variant	-	NC_000012.12:g.52951821T>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser305Pro	rs779439842	missense variant	-	NC_000012.12:g.52951821T>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile308Phe	rs748258071	missense variant	-	NC_000012.12:g.52951830A>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile308Met	rs149270992	missense variant	-	NC_000012.12:g.52951832C>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp309Asn	rs199930351	missense variant	-	NC_000012.12:g.52951833G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp309His	rs199930351	missense variant	-	NC_000012.12:g.52951833G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser312Pro	rs760836025	missense variant	-	NC_000012.12:g.52951842T>C	ExAC,gnomAD
KRT18	P05783	p.Lys317Arg	rs1382465483	missense variant	-	NC_000012.12:g.52952120A>G	gnomAD
KRT18	P05783	p.Lys317Glu	COSM5163397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52952119A>G	NCI-TCGA Cosmic
KRT18	P05783	p.Ala318Val	rs1324297627	missense variant	-	NC_000012.12:g.52952123C>T	gnomAD
KRT18	P05783	p.Ser319Arg	rs961254162	missense variant	-	NC_000012.12:g.52952127C>G	gnomAD
KRT18	P05783	p.Ser319Gly	rs1227105377	missense variant	-	NC_000012.12:g.52952125A>G	gnomAD
KRT18	P05783	p.Ser319Asn	rs1303493962	missense variant	-	NC_000012.12:g.52952126G>A	gnomAD
KRT18	P05783	p.Leu324Gln	COSM4918592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52952141T>A	NCI-TCGA Cosmic
KRT18	P05783	p.Leu324Met	rs569786087	missense variant	-	NC_000012.12:g.52952140C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg325Lys	rs554733127	missense variant	-	NC_000012.12:g.52952144G>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu326Gln	rs1206645651	missense variant	-	NC_000012.12:g.52952146G>C	gnomAD
KRT18	P05783	p.Glu326Lys	rs1206645651	missense variant	-	NC_000012.12:g.52952146G>A	gnomAD
KRT18	P05783	p.Val327Met	rs1479626216	missense variant	-	NC_000012.12:g.52952149G>A	TOPMed
KRT18	P05783	p.Ala329Val	rs1194423970	missense variant	-	NC_000012.12:g.52952156C>T	gnomAD
KRT18	P05783	p.Arg330Cys	rs147365823	missense variant	-	NC_000012.12:g.52952158C>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg330His	rs755405944	missense variant	-	NC_000012.12:g.52952159G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala332Thr	rs748604274	missense variant	-	NC_000012.12:g.52952164G>A	ExAC,gnomAD
KRT18	P05783	p.Met335Arg	rs777734597	missense variant	-	NC_000012.12:g.52952174T>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Met335Leu	rs1382413504	missense variant	-	NC_000012.12:g.52952173A>T	gnomAD
KRT18	P05783	p.Met335Thr	rs777734597	missense variant	-	NC_000012.12:g.52952174T>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu336Lys	rs1326009340	missense variant	-	NC_000012.12:g.52952176G>A	gnomAD
KRT18	P05783	p.Gly340Arg	rs57370769	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52952188G>A	UniProt,dbSNP
KRT18	P05783	p.Gly340Arg	VAR_023057	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52952188G>A	UniProt
KRT18	P05783	p.Gly340Arg	rs57370769	missense variant	-	NC_000012.12:g.52952188G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly340Arg	RCV000056431	missense variant	-	NC_000012.12:g.52952188G>A	ClinVar
KRT18	P05783	p.Leu342Val	rs1300560482	missense variant	-	NC_000012.12:g.52952194C>G	gnomAD
KRT18	P05783	p.Leu342Pro	rs1317426104	missense variant	-	NC_000012.12:g.52952195T>C	gnomAD
KRT18	P05783	p.Glu346Lys	rs143380812	missense variant	-	NC_000012.12:g.52952206G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu348Gln	rs1254987867	missense variant	-	NC_000012.12:g.52952212G>C	gnomAD
KRT18	P05783	p.Leu349Arg	rs1321070806	missense variant	-	NC_000012.12:g.52952216T>G	TOPMed
KRT18	P05783	p.Gln351His	rs1467228032	missense variant	-	NC_000012.12:g.52952223G>C	gnomAD
KRT18	P05783	p.Thr352Ile	rs1190661327	missense variant	-	NC_000012.12:g.52952225C>T	TOPMed,gnomAD
KRT18	P05783	p.Arg353Gly	rs1421391734	missense variant	-	NC_000012.12:g.52952227C>G	TOPMed,gnomAD
KRT18	P05783	p.Arg353Gln	rs769726300	missense variant	-	NC_000012.12:g.52952228G>A	ExAC,gnomAD
KRT18	P05783	p.Arg353Trp	rs1421391734	missense variant	-	NC_000012.12:g.52952227C>T	TOPMed,gnomAD
KRT18	P05783	p.Ala354Glu	rs543607490	missense variant	-	NC_000012.12:g.52952231C>A	1000Genomes,ExAC,gnomAD
KRT18	P05783	p.Ala354Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52952231C>T	NCI-TCGA
KRT18	P05783	p.Gln357Leu	rs1456394601	missense variant	-	NC_000012.12:g.52952240A>T	TOPMed,gnomAD
KRT18	P05783	p.Gln357Arg	rs1456394601	missense variant	-	NC_000012.12:g.52952240A>G	TOPMed,gnomAD
KRT18	P05783	p.Arg358His	rs762831521	missense variant	-	NC_000012.12:g.52952243G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala360Val	rs763612705	missense variant	-	NC_000012.12:g.52952249C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gln361Ter	rs1459462925	stop gained	-	NC_000012.12:g.52952251C>T	gnomAD
KRT18	P05783	p.Gln361His	rs1292425055	missense variant	-	NC_000012.12:g.52952253G>C	TOPMed,gnomAD
KRT18	P05783	p.Gln361ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52952248_52952249insC	NCI-TCGA
KRT18	P05783	p.Glu362Lys	COSM3368858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52952254G>A	NCI-TCGA Cosmic
KRT18	P05783	p.Tyr363Phe	rs1392999290	missense variant	-	NC_000012.12:g.52952258A>T	gnomAD
KRT18	P05783	p.Ile369Val	rs1234167038	missense variant	-	NC_000012.12:g.52952275A>G	gnomAD
KRT18	P05783	p.Val371Ile	rs1332941249	missense variant	-	NC_000012.12:g.52952281G>A	gnomAD
KRT18	P05783	p.Lys372Asn	rs1221009613	missense variant	-	NC_000012.12:g.52952286G>T	gnomAD
KRT18	P05783	p.Leu373Pro	rs1251892578	missense variant	-	NC_000012.12:g.52952288T>C	gnomAD
KRT18	P05783	p.Glu374Gly	rs750137340	missense variant	-	NC_000012.12:g.52952291A>G	ExAC,gnomAD
KRT18	P05783	p.Ala375Thr	rs1175939678	missense variant	-	NC_000012.12:g.52952293G>A	gnomAD
KRT18	P05783	p.Ala378Val	rs1419656440	missense variant	-	NC_000012.12:g.52952303C>T	gnomAD
KRT18	P05783	p.Ala378Ser	COSM296494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52952302G>T	NCI-TCGA Cosmic
KRT18	P05783	p.Ala378Thr	rs753197079	missense variant	-	NC_000012.12:g.52952302G>A	ExAC,gnomAD
KRT18	P05783	p.Thr379Ile	rs1163469093	missense variant	-	NC_000012.12:g.52952306C>T	TOPMed,gnomAD
KRT18	P05783	p.Thr379Ser	rs1163469093	missense variant	-	NC_000012.12:g.52952306C>G	TOPMed,gnomAD
KRT18	P05783	p.Arg381Ser	rs1044002535	missense variant	-	NC_000012.12:g.52952311C>A	gnomAD
KRT18	P05783	p.Arg381His	rs147541172	missense variant	-	NC_000012.12:g.52952312G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg381Cys	rs1044002535	missense variant	-	NC_000012.12:g.52952311C>T	gnomAD
KRT18	P05783	p.Arg382Leu	rs770506633	missense variant	-	NC_000012.12:g.52952315G>T	TOPMed,gnomAD
KRT18	P05783	p.Arg382His	rs770506633	missense variant	-	NC_000012.12:g.52952315G>A	TOPMed,gnomAD
KRT18	P05783	p.Arg382Ser	rs11551627	missense variant	-	NC_000012.12:g.52952314C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg382Cys	rs11551627	missense variant	-	NC_000012.12:g.52952314C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly387Asp	rs757469736	missense variant	-	NC_000012.12:g.52952330G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu388Asp	rs999709039	missense variant	-	NC_000012.12:g.52952334G>T	TOPMed
KRT18	P05783	p.Glu388Lys	rs746093574	missense variant	-	NC_000012.12:g.52952332G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp389Asn	rs1202485697	missense variant	-	NC_000012.12:g.52952335G>A	gnomAD
KRT18	P05783	p.Phe390Ser	rs1274618434	missense variant	-	NC_000012.12:g.52952339T>C	gnomAD
KRT18	P05783	p.Asn391His	rs769672516	missense variant	-	NC_000012.12:g.52952341A>C	ExAC,gnomAD
KRT18	P05783	p.Gly393Asp	rs903196253	missense variant	-	NC_000012.12:g.52952727G>A	TOPMed,gnomAD
KRT18	P05783	p.Leu396Ser	rs781454348	missense variant	-	NC_000012.12:g.52952736T>C	ExAC,gnomAD
KRT18	P05783	p.Asn400Asp	rs1433088298	missense variant	-	NC_000012.12:g.52952747A>G	gnomAD
KRT18	P05783	p.Ser401Ala	rs1197102047	missense variant	-	NC_000012.12:g.52952750T>G	TOPMed
KRT18	P05783	p.Met402Val	rs746040565	missense variant	-	NC_000012.12:g.52952753A>G	ExAC,gnomAD
KRT18	P05783	p.Thr404Ile	rs1478754941	missense variant	-	NC_000012.12:g.52952760C>T	TOPMed
KRT18	P05783	p.Thr404Ala	rs1371758556	missense variant	-	NC_000012.12:g.52952759A>G	gnomAD
KRT18	P05783	p.Ile405Val	rs1443796983	missense variant	-	NC_000012.12:g.52952762A>G	gnomAD
KRT18	P05783	p.Ile405Thr	rs1273623198	missense variant	-	NC_000012.12:g.52952763T>C	gnomAD
KRT18	P05783	p.Lys407Glu	rs1000629681	missense variant	-	NC_000012.12:g.52952768A>G	TOPMed,gnomAD
KRT18	P05783	p.Thr408Ile	rs1484619017	missense variant	-	NC_000012.12:g.52952772C>T	TOPMed
KRT18	P05783	p.Thr410Asn	rs780366176	missense variant	-	NC_000012.12:g.52952778C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr410Ile	rs780366176	missense variant	-	NC_000012.12:g.52952778C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr410Ser	rs780366176	missense variant	-	NC_000012.12:g.52952778C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg411His	RCV000056432	missense variant	-	NC_000012.12:g.52952781G>A	ClinVar
KRT18	P05783	p.Arg411Cys	rs768557036	missense variant	-	NC_000012.12:g.52952780C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg411His	rs148580152	missense variant	-	NC_000012.12:g.52952781G>A	ESP,TOPMed,gnomAD
KRT18	P05783	p.Arg412Gln	rs146080391	missense variant	-	NC_000012.12:g.52952784G>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg412Trp	rs774101880	missense variant	-	NC_000012.12:g.52952783C>T	ExAC,gnomAD
KRT18	P05783	p.Ile413Thr	rs1244966651	missense variant	-	NC_000012.12:g.52952787T>C	gnomAD
KRT18	P05783	p.Ile413Met	rs1477656651	missense variant	-	NC_000012.12:g.52952788A>G	gnomAD
KRT18	P05783	p.Gly416Asp	rs771518602	missense variant	-	NC_000012.12:g.52952796G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Val418Leu	rs772684603	missense variant	-	NC_000012.12:g.52952801G>T	ExAC,gnomAD
KRT18	P05783	p.Val419Glu	rs765942310	missense variant	-	NC_000012.12:g.52952805T>A	ExAC,gnomAD
KRT18	P05783	p.Glu421Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52952810G>C	NCI-TCGA
KRT18	P05783	p.Asn423Ser	rs200552337	missense variant	-	NC_000012.12:g.52952817A>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp424Tyr	COSM4042953	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52952819G>T	NCI-TCGA Cosmic
KRT18	P05783	p.Lys426Glu	rs1331038097	missense variant	-	NC_000012.12:g.52952825A>G	gnomAD
KRT18	P05783	p.Leu428Pro	rs763169289	missense variant	-	NC_000012.12:g.52952832T>C	ExAC,gnomAD
KRT18	P05783	p.His430Asn	rs1303579109	missense variant	-	NC_000012.12:g.52952837C>A	TOPMed
KRT18	P05783	p.Ser2Thr	rs369198778	missense variant	-	NC_000012.12:g.52949178G>C	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Phe3Cys	rs756991398	missense variant	-	NC_000012.12:g.52949181T>G	ExAC,gnomAD
KRT18	P05783	p.Thr4Ile	rs76301931	missense variant	-	NC_000012.12:g.52949184C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr4Ser	rs76301931	missense variant	-	NC_000012.12:g.52949184C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr4Ala	rs1241148678	missense variant	-	NC_000012.12:g.52949183A>G	gnomAD
KRT18	P05783	p.Arg6Cys	rs1270182586	missense variant	-	NC_000012.12:g.52949189C>T	TOPMed,gnomAD
KRT18	P05783	p.Ser7Tyr	rs775547844	missense variant	-	NC_000012.12:g.52949193C>A	ExAC,gnomAD
KRT18	P05783	p.Phe9Cys	rs945689746	missense variant	-	NC_000012.12:g.52949199T>G	TOPMed,gnomAD
KRT18	P05783	p.Thr11Ile	rs1381635123	missense variant	-	NC_000012.12:g.52949205C>T	gnomAD
KRT18	P05783	p.Thr11Ala	rs748718547	missense variant	-	NC_000012.12:g.52949204A>G	ExAC,gnomAD
KRT18	P05783	p.Tyr13Cys	rs1166470792	missense variant	-	NC_000012.12:g.52949211A>G	TOPMed
KRT18	P05783	p.Arg14Trp	rs766809169	missense variant	-	NC_000012.12:g.52949213C>T	ExAC,gnomAD
KRT18	P05783	p.Arg14Gln	rs777157164	missense variant	-	NC_000012.12:g.52949214G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser15Phe	rs1447813465	missense variant	-	NC_000012.12:g.52949217C>T	gnomAD
KRT18	P05783	p.Ser15Pro	rs753311520	missense variant	-	NC_000012.12:g.52949216T>C	ExAC,gnomAD
KRT18	P05783	p.Gly17Val	rs79476176	missense variant	-	NC_000012.12:g.52949223G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly17Asp	rs79476176	missense variant	-	NC_000012.12:g.52949223G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly17Arg	rs1239570081	missense variant	-	NC_000012.12:g.52949222G>C	gnomAD
KRT18	P05783	p.Ser18Tyr	rs147350452	missense variant	-	NC_000012.12:g.52949226C>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser18Thr	rs1479948631	missense variant	-	NC_000012.12:g.52949225T>A	TOPMed
KRT18	P05783	p.Ser18Cys	rs147350452	missense variant	-	NC_000012.12:g.52949226C>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Tyr24Cys	rs1307456366	missense variant	-	NC_000012.12:g.52949244A>G	TOPMed
KRT18	P05783	p.Tyr24Ter	rs1239572921	stop gained	-	NC_000012.12:g.52949245C>G	gnomAD
KRT18	P05783	p.Gly25Arg	rs750200705	missense variant	-	NC_000012.12:g.52949246G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly25Cys	rs750200705	missense variant	-	NC_000012.12:g.52949246G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly25Ser	rs750200705	missense variant	-	NC_000012.12:g.52949246G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala26Thr	rs78514003	missense variant	-	NC_000012.12:g.52949249G>A	TOPMed,gnomAD
KRT18	P05783	p.Arg27Pro	rs1368538220	missense variant	-	NC_000012.12:g.52949253G>C	gnomAD
KRT18	P05783	p.Arg27Trp	rs77825282	missense variant	-	NC_000012.12:g.52949252C>T	TOPMed,gnomAD
KRT18	P05783	p.Pro28Arg	rs74379840	missense variant	-	NC_000012.12:g.52949256C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Pro28Gln	rs74379840	missense variant	-	NC_000012.12:g.52949256C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Val29Ile	rs1465913307	missense variant	-	NC_000012.12:g.52949258G>A	gnomAD
KRT18	P05783	p.Ser31Cys	rs1398440164	missense variant	-	NC_000012.12:g.52949264A>T	TOPMed,gnomAD
KRT18	P05783	p.Ser31Ile	rs374064321	missense variant	-	NC_000012.12:g.52949265G>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala32Val	rs1297779360	missense variant	-	NC_000012.12:g.52949268C>T	TOPMed,gnomAD
KRT18	P05783	p.Ala32Ser	rs74953757	missense variant	-	NC_000012.12:g.52949267G>T	TOPMed,gnomAD
KRT18	P05783	p.Ser34Arg	rs78343594	missense variant	-	NC_000012.12:g.52949275C>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser34Thr	rs1427838806	missense variant	-	NC_000012.12:g.52949274G>C	TOPMed
KRT18	P05783	p.Val35Ile	rs1243265591	missense variant	-	NC_000012.12:g.52949276G>A	gnomAD
KRT18	P05783	p.Tyr36His	rs1227971336	missense variant	-	NC_000012.12:g.52949279T>C	gnomAD
KRT18	P05783	p.Tyr36Ser	rs891346528	missense variant	-	NC_000012.12:g.52949280A>C	TOPMed,gnomAD
KRT18	P05783	p.Ala37Gly	rs1319072747	missense variant	-	NC_000012.12:g.52949283C>G	gnomAD
KRT18	P05783	p.Ala37Thr	rs1281260117	missense variant	-	NC_000012.12:g.52949282G>A	gnomAD
KRT18	P05783	p.Gly38Ser	rs77999286	missense variant	-	NC_000012.12:g.52949285G>A	TOPMed,gnomAD
KRT18	P05783	p.Gly38Cys	rs77999286	missense variant	-	NC_000012.12:g.52949285G>T	TOPMed,gnomAD
KRT18	P05783	p.Gly38Asp	rs1486318507	missense variant	-	NC_000012.12:g.52949286G>A	TOPMed
KRT18	P05783	p.Ala39Val	rs771828609	missense variant	-	NC_000012.12:g.52949289C>T	ExAC,gnomAD
KRT18	P05783	p.Gly40Arg	rs773038025	missense variant	-	NC_000012.12:g.52949291G>A	ExAC,gnomAD
KRT18	P05783	p.Gly41Ala	rs1256261258	missense variant	-	NC_000012.12:g.52949295G>C	gnomAD
KRT18	P05783	p.Gly41Ser	rs759814479	missense variant	-	NC_000012.12:g.52949294G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser42Pro	rs770250195	missense variant	-	NC_000012.12:g.52949297T>C	ExAC,gnomAD
KRT18	P05783	p.Gly43Ser	rs75441140	missense variant	-	NC_000012.12:g.52949300G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly43Cys	rs75441140	missense variant	-	NC_000012.12:g.52949300G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly43Arg	rs75441140	missense variant	-	NC_000012.12:g.52949300G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly43Asp	rs1263244013	missense variant	-	NC_000012.12:g.52949301G>A	gnomAD
KRT18	P05783	p.Ser44Cys	rs1447084165	missense variant	-	NC_000012.12:g.52949304C>G	gnomAD
KRT18	P05783	p.Ser44Ala	rs763522746	missense variant	-	NC_000012.12:g.52949303T>G	ExAC,gnomAD
KRT18	P05783	p.Arg45Pro	RCV000049578	missense variant	Hepatitis c virus, susceptibility to	NC_000012.12:g.52949307G>C	ClinVar
KRT18	P05783	p.Arg45Trp	rs1478096062	missense variant	-	NC_000012.12:g.52949306C>T	TOPMed,gnomAD
KRT18	P05783	p.Arg45Pro	rs200221269	missense variant	-	NC_000012.12:g.52949307G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile46Leu	rs760412718	missense variant	-	NC_000012.12:g.52949309A>C	ExAC,gnomAD
KRT18	P05783	p.Ile46Phe	rs760412718	missense variant	-	NC_000012.12:g.52949309A>T	ExAC,gnomAD
KRT18	P05783	p.Ser47Phe	rs1452035555	missense variant	-	NC_000012.12:g.52949313C>T	TOPMed
KRT18	P05783	p.Val48Met	rs1359140246	missense variant	-	NC_000012.12:g.52949315G>A	TOPMed,gnomAD
KRT18	P05783	p.Val48Ala	rs761933454	missense variant	-	NC_000012.12:g.52949316T>C	ExAC,gnomAD
KRT18	P05783	p.Val48Leu	rs1359140246	missense variant	-	NC_000012.12:g.52949315G>C	TOPMed,gnomAD
KRT18	P05783	p.Arg50Cys	rs78479490	missense variant	-	NC_000012.12:g.52949321C>T	TOPMed,gnomAD
KRT18	P05783	p.Arg50Leu	rs11551633	missense variant	-	NC_000012.12:g.52949322G>T	ExAC,gnomAD
KRT18	P05783	p.Ser51Phe	rs1394324153	missense variant	-	NC_000012.12:g.52949325C>T	gnomAD
KRT18	P05783	p.Thr52Ile	rs1333552689	missense variant	-	NC_000012.12:g.52949328C>T	gnomAD
KRT18	P05783	p.Ser53Gly	rs1341730231	missense variant	-	NC_000012.12:g.52949330A>G	gnomAD
KRT18	P05783	p.Phe54Leu	rs750714548	missense variant	-	NC_000012.12:g.52949333T>C	ExAC
KRT18	P05783	p.Phe54Ser	rs1429253751	missense variant	-	NC_000012.12:g.52949334T>C	TOPMed
KRT18	P05783	p.Phe54Cys	rs1429253751	missense variant	-	NC_000012.12:g.52949334T>G	TOPMed
KRT18	P05783	p.Arg55Trp	rs78718957	missense variant	-	NC_000012.12:g.52949336A>T	TOPMed,gnomAD
KRT18	P05783	p.Arg55Thr	rs755849994	missense variant	-	NC_000012.12:g.52949337G>C	ExAC
KRT18	P05783	p.Gly56Asp	rs76183244	missense variant	-	NC_000012.12:g.52949340G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly57Cys	rs753674663	missense variant	-	NC_000012.12:g.52949342G>T	ExAC,gnomAD
KRT18	P05783	p.Gly59Arg	rs1317616802	missense variant	-	NC_000012.12:g.52949348G>A	TOPMed,gnomAD
KRT18	P05783	p.Gly59Trp	rs1317616802	missense variant	-	NC_000012.12:g.52949348G>T	TOPMed,gnomAD
KRT18	P05783	p.Gly59Val	rs1226267547	missense variant	-	NC_000012.12:g.52949349G>T	gnomAD
KRT18	P05783	p.Gly59Glu	rs1226267547	missense variant	-	NC_000012.12:g.52949349G>A	gnomAD
KRT18	P05783	p.Gly61Arg	rs779038487	missense variant	-	NC_000012.12:g.52949354G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly61Trp	rs779038487	missense variant	-	NC_000012.12:g.52949354G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly62Ser	rs747629868	missense variant	-	NC_000012.12:g.52949357G>A	ExAC,gnomAD
KRT18	P05783	p.Ala64Gly	rs1216443356	missense variant	-	NC_000012.12:g.52949364C>G	TOPMed,gnomAD
KRT18	P05783	p.Thr65Ile	rs1463167645	missense variant	-	NC_000012.12:g.52949367C>T	gnomAD
KRT18	P05783	p.Gly66Arg	rs777553435	missense variant	-	NC_000012.12:g.52949369G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile67Met	rs77364359	missense variant	-	NC_000012.12:g.52949374A>G	TOPMed,gnomAD
KRT18	P05783	p.Ala68Thr	rs1260779156	missense variant	-	NC_000012.12:g.52949375G>A	TOPMed,gnomAD
KRT18	P05783	p.Ala68Ser	rs1260779156	missense variant	-	NC_000012.12:g.52949375G>T	TOPMed,gnomAD
KRT18	P05783	p.Gly69Arg	rs11551624	missense variant	-	NC_000012.12:g.52949378G>A	gnomAD
KRT18	P05783	p.Gly69Trp	rs11551624	missense variant	-	NC_000012.12:g.52949378G>T	gnomAD
KRT18	P05783	p.Gly69Ala	rs532875586	missense variant	-	NC_000012.12:g.52949379G>C	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly70Asp	rs1172136071	missense variant	-	NC_000012.12:g.52949382G>A	gnomAD
KRT18	P05783	p.Ala72Ser	rs1424932919	missense variant	-	NC_000012.12:g.52949387G>T	gnomAD
KRT18	P05783	p.Gly73Arg	rs1402412772	missense variant	-	NC_000012.12:g.52949390G>A	gnomAD
KRT18	P05783	p.Met74Thr	rs1462527970	missense variant	-	NC_000012.12:g.52949394T>C	TOPMed
KRT18	P05783	p.Gly75Arg	rs1420009357	missense variant	-	NC_000012.12:g.52949396G>C	gnomAD
KRT18	P05783	p.Gly76Arg	rs1372602238	missense variant	-	NC_000012.12:g.52949399G>C	TOPMed
KRT18	P05783	p.Ile77Thr	rs1340333805	missense variant	-	NC_000012.12:g.52949403T>C	gnomAD
KRT18	P05783	p.Asn79Asp	rs1161922697	missense variant	-	NC_000012.12:g.52949408A>G	gnomAD
KRT18	P05783	p.Glu80Lys	rs199572098	missense variant	-	NC_000012.12:g.52949411G>A	TOPMed,gnomAD
KRT18	P05783	p.Glu82Lys	rs774882680	missense variant	-	NC_000012.12:g.52949417G>A	ExAC,gnomAD
KRT18	P05783	p.Met84Ile	rs79346135	missense variant	-	NC_000012.12:g.52949425G>A	TOPMed,gnomAD
KRT18	P05783	p.Ser86Thr	rs1188380011	missense variant	-	NC_000012.12:g.52949430G>C	TOPMed
KRT18	P05783	p.Arg90Cys	rs1397020078	missense variant	-	NC_000012.12:g.52949441C>T	TOPMed,gnomAD
KRT18	P05783	p.Ala92Pro	rs1434610693	missense variant	-	NC_000012.12:g.52949447G>C	TOPMed,gnomAD
KRT18	P05783	p.Ser93Pro	rs551257529	missense variant	-	NC_000012.12:g.52949450T>C	1000Genomes
KRT18	P05783	p.Asp96Asn	rs1191605617	missense variant	-	NC_000012.12:g.52949459G>A	gnomAD
KRT18	P05783	p.Arg99Ser	rs760985349	missense variant	-	NC_000012.12:g.52949470G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser100Arg	rs796361379	missense variant	-	NC_000012.12:g.52949473C>G	TOPMed,gnomAD
KRT18	P05783	p.Glu102Val	rs144926827	missense variant	-	NC_000012.12:g.52949478A>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr103Asn	rs1273250739	missense variant	-	NC_000012.12:g.52949481C>A	TOPMed,gnomAD
KRT18	P05783	p.Thr103Ala	rs61136606	missense variant	-	NC_000012.12:g.52949480A>G	ExAC,gnomAD
KRT18	P05783	p.Thr103Ala	rs61136606	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52949480A>G	UniProt,dbSNP
KRT18	P05783	p.Thr103Ala	VAR_023054	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52949480A>G	UniProt
KRT18	P05783	p.Thr103Ser	rs1273250739	missense variant	-	NC_000012.12:g.52949481C>G	TOPMed,gnomAD
KRT18	P05783	p.Thr103Ala	RCV000056434	missense variant	-	NC_000012.12:g.52949480A>G	ClinVar
KRT18	P05783	p.Glu104Ter	rs1418823110	stop gained	-	NC_000012.12:g.52949483G>T	TOPMed
KRT18	P05783	p.Glu104Gly	rs1218968384	missense variant	-	NC_000012.12:g.52949484A>G	gnomAD
KRT18	P05783	p.Glu104Asp	rs1164534748	missense variant	-	NC_000012.12:g.52949485G>C	TOPMed
KRT18	P05783	p.Arg106Trp	rs11551638	missense variant	-	NC_000012.12:g.52949489C>T	TOPMed,gnomAD
KRT18	P05783	p.Arg106Leu	rs765260052	missense variant	-	NC_000012.12:g.52949490G>T	ExAC,gnomAD
KRT18	P05783	p.Ser110Thr	rs752738391	missense variant	-	NC_000012.12:g.52949502G>C	ExAC,gnomAD
KRT18	P05783	p.Ser110Gly	rs1360506073	missense variant	-	NC_000012.12:g.52949501A>G	gnomAD
KRT18	P05783	p.Arg113Trp	rs777429135	missense variant	-	NC_000012.12:g.52949510C>T	ExAC
KRT18	P05783	p.His115Leu	rs1481173368	missense variant	-	NC_000012.12:g.52949517A>T	gnomAD
KRT18	P05783	p.Glu117Lys	rs1241736628	missense variant	-	NC_000012.12:g.52949522G>A	gnomAD
KRT18	P05783	p.Lys118Asn	rs749637522	missense variant	-	NC_000012.12:g.52949527G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Lys119Arg	rs147945345	missense variant	-	NC_000012.12:g.52949529A>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Lys119Asn	rs1222130911	missense variant	-	NC_000012.12:g.52949530G>C	gnomAD
KRT18	P05783	p.Pro121Ser	rs796088051	missense variant	-	NC_000012.12:g.52949534C>T	TOPMed,gnomAD
KRT18	P05783	p.Gln122Pro	rs1420153393	missense variant	-	NC_000012.12:g.52949538A>C	TOPMed,gnomAD
KRT18	P05783	p.Val123Ala	rs748671089	missense variant	-	NC_000012.12:g.52949541T>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Val123Asp	rs748671089	missense variant	-	NC_000012.12:g.52949541T>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp125His	rs772097116	missense variant	-	NC_000012.12:g.52949546G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Trp126Cys	rs140324943	missense variant	-	NC_000012.12:g.52949551G>T	1000Genomes,ExAC,gnomAD
KRT18	P05783	p.Trp126Arg	rs1213337755	missense variant	-	NC_000012.12:g.52949549T>A	gnomAD
KRT18	P05783	p.His128Leu	rs57758506	missense variant	-	NC_000012.12:g.52949556A>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.His128Leu	rs57758506	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52949556A>T	UniProt,dbSNP
KRT18	P05783	p.His128Leu	VAR_003852	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52949556A>T	UniProt
KRT18	P05783	p.His128Leu	RCV000015687	missense variant	Cirrhosis, noncryptogenic, susceptibility to	NC_000012.12:g.52949556A>T	ClinVar
KRT18	P05783	p.Ile132Thr	rs1442739455	missense variant	-	NC_000012.12:g.52949568T>C	TOPMed,gnomAD
KRT18	P05783	p.Ile133Met	rs1348614728	missense variant	-	NC_000012.12:g.52949572C>G	TOPMed,gnomAD
KRT18	P05783	p.Glu134Gln	rs1227737710	missense variant	-	NC_000012.12:g.52949573G>C	TOPMed,gnomAD
KRT18	P05783	p.Arg137Trp	rs759391099	missense variant	-	NC_000012.12:g.52949582A>T	ExAC,gnomAD
KRT18	P05783	p.Ala138Thr	rs766333046	missense variant	-	NC_000012.12:g.52949585G>A	ExAC,gnomAD
KRT18	P05783	p.Gln139Arg	rs955495297	missense variant	-	NC_000012.12:g.52949589A>G	TOPMed,gnomAD
KRT18	P05783	p.Ile140Val	rs1451370716	missense variant	-	NC_000012.12:g.52950328A>G	gnomAD
KRT18	P05783	p.Phe141Leu	rs745911935	missense variant	-	NC_000012.12:g.52950333C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala142Thr	rs770066827	missense variant	-	NC_000012.12:g.52950334G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp146Val	rs768434116	missense variant	-	NC_000012.12:g.52950347A>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp146Gly	rs768434116	missense variant	-	NC_000012.12:g.52950347A>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp146His	rs749538159	missense variant	-	NC_000012.12:g.52950346G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp146Asn	rs749538159	missense variant	-	NC_000012.12:g.52950346G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asn147Thr	rs1342840924	missense variant	-	NC_000012.12:g.52950350A>C	gnomAD
KRT18	P05783	p.Arg149His	rs200694483	missense variant	-	NC_000012.12:g.52950356G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg149Leu	rs200694483	missense variant	-	NC_000012.12:g.52950356G>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg149Cys	rs1293064587	missense variant	-	NC_000012.12:g.52950355C>T	gnomAD
KRT18	P05783	p.Ile150Met	rs771870687	missense variant	-	NC_000012.12:g.52950360C>G	ExAC
KRT18	P05783	p.Ile150Val	rs59979366	missense variant	-	NC_000012.12:g.52950358A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile150Val	RCV000056437	missense variant	-	NC_000012.12:g.52950358A>G	ClinVar
KRT18	P05783	p.Val151Ile	rs1252659630	missense variant	-	NC_000012.12:g.52950361G>A	gnomAD
KRT18	P05783	p.Ile154Thr	rs1194791264	missense variant	-	NC_000012.12:g.52950371T>C	TOPMed,gnomAD
KRT18	P05783	p.Asp155Glu	rs1253749291	missense variant	-	NC_000012.12:g.52950375C>A	TOPMed
KRT18	P05783	p.Asn156Ser	rs760161076	missense variant	-	NC_000012.12:g.52950377A>G	ExAC,gnomAD
KRT18	P05783	p.Ala157Thr	rs776198491	missense variant	-	NC_000012.12:g.52950379G>A	ExAC,gnomAD
KRT18	P05783	p.Arg158His	rs369948432	missense variant	-	NC_000012.12:g.52950383G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg158Gly	rs553275094	missense variant	-	NC_000012.12:g.52950382C>G	ExAC,gnomAD
KRT18	P05783	p.Arg158Cys	rs553275094	missense variant	-	NC_000012.12:g.52950382C>T	ExAC,gnomAD
KRT18	P05783	p.Leu159Ile	rs1277229176	missense variant	-	NC_000012.12:g.52950385C>A	TOPMed
KRT18	P05783	p.Ala161Thr	rs11551626	missense variant	-	NC_000012.12:g.52950391G>A	gnomAD
KRT18	P05783	p.Ala161Ser	rs11551626	missense variant	-	NC_000012.12:g.52950391G>T	gnomAD
KRT18	P05783	p.Arg165Thr	rs898492782	missense variant	-	NC_000012.12:g.52950404G>C	TOPMed,gnomAD
KRT18	P05783	p.Tyr168Cys	rs1372689032	missense variant	-	NC_000012.12:g.52950752A>G	gnomAD
KRT18	P05783	p.Ala173Gly	rs777576325	missense variant	-	NC_000012.12:g.52950767C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala173Pro	rs758121818	missense variant	-	NC_000012.12:g.52950766G>C	ExAC,gnomAD
KRT18	P05783	p.Arg175Cys	rs746898922	missense variant	-	NC_000012.12:g.52950772C>T	ExAC,gnomAD
KRT18	P05783	p.Arg175His	rs1217770008	missense variant	-	NC_000012.12:g.52950773G>A	TOPMed,gnomAD
KRT18	P05783	p.Arg175Leu	rs1217770008	missense variant	-	NC_000012.12:g.52950773G>T	TOPMed,gnomAD
KRT18	P05783	p.Gln176Arg	rs781231306	missense variant	-	NC_000012.12:g.52950776A>G	ExAC,gnomAD
KRT18	P05783	p.Ser177Phe	rs1217896141	missense variant	-	NC_000012.12:g.52950779C>T	TOPMed
KRT18	P05783	p.Val178Met	rs1171935393	missense variant	-	NC_000012.12:g.52950781G>A	gnomAD
KRT18	P05783	p.Asp181Glu	rs774948895	missense variant	-	NC_000012.12:g.52950792C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile182Thr	rs762675185	missense variant	-	NC_000012.12:g.52950794T>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Leu185Phe	rs1421413412	missense variant	-	NC_000012.12:g.52950802C>T	gnomAD
KRT18	P05783	p.Arg186His	rs773737254	missense variant	-	NC_000012.12:g.52950806G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg186Cys	rs772530106	missense variant	-	NC_000012.12:g.52950805C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Val188Ile	rs1295633602	missense variant	-	NC_000012.12:g.52950811G>A	gnomAD
KRT18	P05783	p.Asp190Tyr	rs1274432464	missense variant	-	NC_000012.12:g.52950817G>T	TOPMed
KRT18	P05783	p.Asn193Ser	rs1434595201	missense variant	-	NC_000012.12:g.52950827A>G	TOPMed
KRT18	P05783	p.Asn193Asp	rs11170343	missense variant	-	NC_000012.12:g.52950826A>G	ExAC,gnomAD
KRT18	P05783	p.Thr195Ile	rs1329069794	missense variant	-	NC_000012.12:g.52950833C>T	TOPMed
KRT18	P05783	p.Arg196Gln	rs903529010	missense variant	-	NC_000012.12:g.52950836G>A	TOPMed,gnomAD
KRT18	P05783	p.Glu200Gly	rs146788536	missense variant	-	NC_000012.12:g.52950848A>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile203Phe	rs1296302277	missense variant	-	NC_000012.12:g.52950856A>T	TOPMed
KRT18	P05783	p.Ile203Ser	rs770760404	missense variant	-	NC_000012.12:g.52950857T>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu204Lys	rs1467314647	missense variant	-	NC_000012.12:g.52950859G>A	gnomAD
KRT18	P05783	p.Glu204Gly	rs1213240462	missense variant	-	NC_000012.12:g.52950860A>G	gnomAD
KRT18	P05783	p.Ala205Thr	rs1171566992	missense variant	-	NC_000012.12:g.52950862G>A	TOPMed
KRT18	P05783	p.Lys207Arg	rs542816796	missense variant	-	NC_000012.12:g.52950869A>G	1000Genomes,TOPMed
KRT18	P05783	p.Glu208Val	rs1488193972	missense variant	-	NC_000012.12:g.52950872A>T	TOPMed
KRT18	P05783	p.Met213Thr	rs1213666438	missense variant	-	NC_000012.12:g.52950887T>C	TOPMed
KRT18	P05783	p.Asn216Ser	rs1416055882	missense variant	-	NC_000012.12:g.52950896A>G	gnomAD
KRT18	P05783	p.Glu218Lys	rs375823747	missense variant	-	NC_000012.12:g.52950901G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu219Gly	rs531597374	missense variant	-	NC_000012.12:g.52950905A>G	1000Genomes,ExAC,gnomAD
KRT18	P05783	p.Lys222Glu	rs760118857	missense variant	-	NC_000012.12:g.52951487A>G	ExAC,gnomAD
KRT18	P05783	p.Gly223Ser	rs765181291	missense variant	-	NC_000012.12:g.52951490G>A	ExAC,gnomAD
KRT18	P05783	p.Gly223Asp	rs752798433	missense variant	-	NC_000012.12:g.52951491G>A	ExAC,gnomAD
KRT18	P05783	p.Ala226Thr	rs763059508	missense variant	-	NC_000012.12:g.52951499G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala226Val	rs1311227284	missense variant	-	NC_000012.12:g.52951500C>T	TOPMed
KRT18	P05783	p.Gln227Pro	rs1312796330	missense variant	-	NC_000012.12:g.52951503A>C	gnomAD
KRT18	P05783	p.Ile228Met	rs11551639	missense variant	-	NC_000012.12:g.52951507T>G	-
KRT18	P05783	p.Ile228Thr	rs764298430	missense variant	-	NC_000012.12:g.52951506T>C	ExAC,gnomAD
KRT18	P05783	p.Ala229Pro	rs1278862013	missense variant	-	NC_000012.12:g.52951508G>C	gnomAD
KRT18	P05783	p.Ser230Thr	rs58472472	missense variant	-	NC_000012.12:g.52951512G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser230Thr	rs58472472	missense variant	-	NC_000012.12:g.52951512G>C	UniProt,dbSNP
KRT18	P05783	p.Ser230Thr	VAR_023055	missense variant	-	NC_000012.12:g.52951512G>C	UniProt
KRT18	P05783	p.Ser230Thr	RCV000056439	missense variant	-	NC_000012.12:g.52951512G>C	ClinVar
KRT18	P05783	p.Ser231Pro	rs1048221713	missense variant	-	NC_000012.12:g.52951514T>C	TOPMed,gnomAD
KRT18	P05783	p.Val235Met	rs756101711	missense variant	-	NC_000012.12:g.52951526G>A	ExAC,gnomAD
KRT18	P05783	p.Asp238Glu	rs779909524	missense variant	-	NC_000012.12:g.52951537T>A	ExAC,gnomAD
KRT18	P05783	p.Asp238Glu	rs779909524	missense variant	-	NC_000012.12:g.52951537T>G	ExAC,gnomAD
KRT18	P05783	p.Lys241Thr	rs1174953357	missense variant	-	NC_000012.12:g.52951545A>C	TOPMed,gnomAD
KRT18	P05783	p.Lys241Arg	rs1174953357	missense variant	-	NC_000012.12:g.52951545A>G	TOPMed,gnomAD
KRT18	P05783	p.Asp244Val	rs1303490294	missense variant	-	NC_000012.12:g.52951554A>T	TOPMed
KRT18	P05783	p.Ala246Thr	rs748780372	missense variant	-	NC_000012.12:g.52951559G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Lys247Arg	rs1318727866	missense variant	-	NC_000012.12:g.52951563A>G	gnomAD
KRT18	P05783	p.Ile248Thr	rs1173135661	missense variant	-	NC_000012.12:g.52951566T>C	TOPMed
KRT18	P05783	p.Met249Ile	rs191325805	missense variant	-	NC_000012.12:g.52951570G>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala250Thr	rs778646111	missense variant	-	NC_000012.12:g.52951571G>A	ExAC,gnomAD
KRT18	P05783	p.Arg253Gln	rs747804954	missense variant	-	NC_000012.12:g.52951581G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu258Lys	rs1347876514	missense variant	-	NC_000012.12:g.52951595G>A	TOPMed,gnomAD
KRT18	P05783	p.Ala260Pro	rs925098058	missense variant	-	NC_000012.12:g.52951601G>C	TOPMed
KRT18	P05783	p.Arg261Gln	rs57354642	missense variant	-	NC_000012.12:g.52951605G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg261Gln	rs57354642	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52951605G>A	UniProt,dbSNP
KRT18	P05783	p.Arg261Gln	VAR_023056	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52951605G>A	UniProt
KRT18	P05783	p.Arg261Trp	rs776044211	missense variant	-	NC_000012.12:g.52951604C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg261Gln	RCV000056440	missense variant	-	NC_000012.12:g.52951605G>A	ClinVar
KRT18	P05783	p.Asn263Lys	rs11551643	missense variant	-	NC_000012.12:g.52951612C>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg264Ter	rs774491952	stop gained	-	NC_000012.12:g.52951613C>T	ExAC,gnomAD
KRT18	P05783	p.Arg264Gln	rs762129501	missense variant	-	NC_000012.12:g.52951614G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu265Asp	rs767170853	missense variant	-	NC_000012.12:g.52951618G>C	ExAC,gnomAD
KRT18	P05783	p.Asp268Gly	rs755905707	missense variant	-	NC_000012.12:g.52951626A>G	ExAC,gnomAD
KRT18	P05783	p.Asp268Glu	rs1217251308	missense variant	-	NC_000012.12:g.52951627C>A	TOPMed
KRT18	P05783	p.Lys269Asn	rs766324065	missense variant	-	NC_000012.12:g.52951630G>C	ExAC,gnomAD
KRT18	P05783	p.Ser272Phe	rs1314118024	missense variant	-	NC_000012.12:g.52951638C>T	TOPMed
KRT18	P05783	p.Ile275Thr	rs565940319	missense variant	-	NC_000012.12:g.52951732T>C	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu276Gly	rs61696408	missense variant	-	NC_000012.12:g.52951735A>G	-
KRT18	P05783	p.Glu276Gly	RCV000056441	missense variant	-	NC_000012.12:g.52951735A>G	ClinVar
KRT18	P05783	p.Val281Leu	rs766276909	missense variant	-	NC_000012.12:g.52951749G>C	ExAC,gnomAD
KRT18	P05783	p.Val282Phe	rs754985586	missense variant	-	NC_000012.12:g.52951752G>T	ExAC,gnomAD
KRT18	P05783	p.Gln285Arg	RCV000056442	missense variant	-	NC_000012.12:g.52951762A>G	ClinVar
KRT18	P05783	p.Gln285Arg	rs59112368	missense variant	-	NC_000012.12:g.52951762A>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala287Val	rs1294310136	missense variant	-	NC_000012.12:g.52951768C>T	gnomAD
KRT18	P05783	p.Ala292Thr	rs1266499407	missense variant	-	NC_000012.12:g.52951782G>A	TOPMed
KRT18	P05783	p.Thr294Met	rs1355185338	missense variant	-	NC_000012.12:g.52951789C>T	gnomAD
KRT18	P05783	p.Thr294Ala	rs757912166	missense variant	-	NC_000012.12:g.52951788A>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr295Met	RCV000056443	missense variant	-	NC_000012.12:g.52951792C>T	ClinVar
KRT18	P05783	p.Thr295Met	rs267607418	missense variant	-	NC_000012.12:g.52951792C>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr295Lys	rs267607418	missense variant	-	NC_000012.12:g.52951792C>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Leu296Pro	rs1180938510	missense variant	-	NC_000012.12:g.52951795T>C	gnomAD
KRT18	P05783	p.Thr297Ile	rs115810585	missense variant	-	NC_000012.12:g.52951798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr297Ile	RCV000056444	missense variant	-	NC_000012.12:g.52951798C>T	ClinVar
KRT18	P05783	p.Arg300Thr	rs749749094	missense variant	-	NC_000012.12:g.52951807G>C	ExAC,gnomAD
KRT18	P05783	p.Arg300Gly	rs1185499795	missense variant	-	NC_000012.12:g.52951806A>G	gnomAD
KRT18	P05783	p.Arg301His	rs1169724462	missense variant	-	NC_000012.12:g.52951810G>A	TOPMed,gnomAD
KRT18	P05783	p.Arg301Cys	rs932515816	missense variant	-	NC_000012.12:g.52951809C>T	gnomAD
KRT18	P05783	p.Thr302Ile	rs769132516	missense variant	-	NC_000012.12:g.52951813C>T	ExAC,gnomAD
KRT18	P05783	p.Ser305Phe	rs1457337517	missense variant	-	NC_000012.12:g.52951822C>T	TOPMed
KRT18	P05783	p.Ser305Thr	rs779439842	missense variant	-	NC_000012.12:g.52951821T>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser305Pro	rs779439842	missense variant	-	NC_000012.12:g.52951821T>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile308Phe	rs748258071	missense variant	-	NC_000012.12:g.52951830A>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ile308Met	rs149270992	missense variant	-	NC_000012.12:g.52951832C>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp309Asn	rs199930351	missense variant	-	NC_000012.12:g.52951833G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp309His	rs199930351	missense variant	-	NC_000012.12:g.52951833G>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ser312Pro	rs760836025	missense variant	-	NC_000012.12:g.52951842T>C	ExAC,gnomAD
KRT18	P05783	p.Lys317Arg	rs1382465483	missense variant	-	NC_000012.12:g.52952120A>G	gnomAD
KRT18	P05783	p.Ala318Val	rs1324297627	missense variant	-	NC_000012.12:g.52952123C>T	gnomAD
KRT18	P05783	p.Ser319Arg	rs961254162	missense variant	-	NC_000012.12:g.52952127C>G	gnomAD
KRT18	P05783	p.Ser319Gly	rs1227105377	missense variant	-	NC_000012.12:g.52952125A>G	gnomAD
KRT18	P05783	p.Ser319Asn	rs1303493962	missense variant	-	NC_000012.12:g.52952126G>A	gnomAD
KRT18	P05783	p.Leu324Met	rs569786087	missense variant	-	NC_000012.12:g.52952140C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg325Lys	rs554733127	missense variant	-	NC_000012.12:g.52952144G>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu326Gln	rs1206645651	missense variant	-	NC_000012.12:g.52952146G>C	gnomAD
KRT18	P05783	p.Glu326Lys	rs1206645651	missense variant	-	NC_000012.12:g.52952146G>A	gnomAD
KRT18	P05783	p.Val327Met	rs1479626216	missense variant	-	NC_000012.12:g.52952149G>A	TOPMed
KRT18	P05783	p.Ala329Val	rs1194423970	missense variant	-	NC_000012.12:g.52952156C>T	gnomAD
KRT18	P05783	p.Arg330Cys	rs147365823	missense variant	-	NC_000012.12:g.52952158C>T	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg330His	rs755405944	missense variant	-	NC_000012.12:g.52952159G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala332Thr	rs748604274	missense variant	-	NC_000012.12:g.52952164G>A	ExAC,gnomAD
KRT18	P05783	p.Met335Thr	rs777734597	missense variant	-	NC_000012.12:g.52952174T>C	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Met335Arg	rs777734597	missense variant	-	NC_000012.12:g.52952174T>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Met335Leu	rs1382413504	missense variant	-	NC_000012.12:g.52952173A>T	gnomAD
KRT18	P05783	p.Glu336Lys	rs1326009340	missense variant	-	NC_000012.12:g.52952176G>A	gnomAD
KRT18	P05783	p.Gly340Arg	rs57370769	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52952188G>A	UniProt,dbSNP
KRT18	P05783	p.Gly340Arg	VAR_023057	missense variant	Cirrhosis (CIRRH)	NC_000012.12:g.52952188G>A	UniProt
KRT18	P05783	p.Gly340Arg	rs57370769	missense variant	-	NC_000012.12:g.52952188G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly340Arg	RCV000056431	missense variant	-	NC_000012.12:g.52952188G>A	ClinVar
KRT18	P05783	p.Leu342Pro	rs1317426104	missense variant	-	NC_000012.12:g.52952195T>C	gnomAD
KRT18	P05783	p.Leu342Val	rs1300560482	missense variant	-	NC_000012.12:g.52952194C>G	gnomAD
KRT18	P05783	p.Glu346Lys	rs143380812	missense variant	-	NC_000012.12:g.52952206G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu348Gln	rs1254987867	missense variant	-	NC_000012.12:g.52952212G>C	gnomAD
KRT18	P05783	p.Leu349Arg	rs1321070806	missense variant	-	NC_000012.12:g.52952216T>G	TOPMed
KRT18	P05783	p.Gln351His	rs1467228032	missense variant	-	NC_000012.12:g.52952223G>C	gnomAD
KRT18	P05783	p.Thr352Ile	rs1190661327	missense variant	-	NC_000012.12:g.52952225C>T	TOPMed,gnomAD
KRT18	P05783	p.Arg353Gly	rs1421391734	missense variant	-	NC_000012.12:g.52952227C>G	TOPMed,gnomAD
KRT18	P05783	p.Arg353Gln	rs769726300	missense variant	-	NC_000012.12:g.52952228G>A	ExAC,gnomAD
KRT18	P05783	p.Arg353Trp	rs1421391734	missense variant	-	NC_000012.12:g.52952227C>T	TOPMed,gnomAD
KRT18	P05783	p.Ala354Glu	rs543607490	missense variant	-	NC_000012.12:g.52952231C>A	1000Genomes,ExAC,gnomAD
KRT18	P05783	p.Gln357Leu	rs1456394601	missense variant	-	NC_000012.12:g.52952240A>T	TOPMed,gnomAD
KRT18	P05783	p.Gln357Arg	rs1456394601	missense variant	-	NC_000012.12:g.52952240A>G	TOPMed,gnomAD
KRT18	P05783	p.Arg358His	rs762831521	missense variant	-	NC_000012.12:g.52952243G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Ala360Val	rs763612705	missense variant	-	NC_000012.12:g.52952249C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gln361Ter	rs1459462925	stop gained	-	NC_000012.12:g.52952251C>T	gnomAD
KRT18	P05783	p.Gln361His	rs1292425055	missense variant	-	NC_000012.12:g.52952253G>C	TOPMed,gnomAD
KRT18	P05783	p.Tyr363Phe	rs1392999290	missense variant	-	NC_000012.12:g.52952258A>T	gnomAD
KRT18	P05783	p.Ile369Val	rs1234167038	missense variant	-	NC_000012.12:g.52952275A>G	gnomAD
KRT18	P05783	p.Val371Ile	rs1332941249	missense variant	-	NC_000012.12:g.52952281G>A	gnomAD
KRT18	P05783	p.Lys372Asn	rs1221009613	missense variant	-	NC_000012.12:g.52952286G>T	gnomAD
KRT18	P05783	p.Leu373Pro	rs1251892578	missense variant	-	NC_000012.12:g.52952288T>C	gnomAD
KRT18	P05783	p.Glu374Gly	rs750137340	missense variant	-	NC_000012.12:g.52952291A>G	ExAC,gnomAD
KRT18	P05783	p.Ala375Thr	rs1175939678	missense variant	-	NC_000012.12:g.52952293G>A	gnomAD
KRT18	P05783	p.Ala378Val	rs1419656440	missense variant	-	NC_000012.12:g.52952303C>T	gnomAD
KRT18	P05783	p.Ala378Thr	rs753197079	missense variant	-	NC_000012.12:g.52952302G>A	ExAC,gnomAD
KRT18	P05783	p.Thr379Ile	rs1163469093	missense variant	-	NC_000012.12:g.52952306C>T	TOPMed,gnomAD
KRT18	P05783	p.Thr379Ser	rs1163469093	missense variant	-	NC_000012.12:g.52952306C>G	TOPMed,gnomAD
KRT18	P05783	p.Arg381Ser	rs1044002535	missense variant	-	NC_000012.12:g.52952311C>A	gnomAD
KRT18	P05783	p.Arg381His	rs147541172	missense variant	-	NC_000012.12:g.52952312G>A	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg381Cys	rs1044002535	missense variant	-	NC_000012.12:g.52952311C>T	gnomAD
KRT18	P05783	p.Arg382Leu	rs770506633	missense variant	-	NC_000012.12:g.52952315G>T	TOPMed,gnomAD
KRT18	P05783	p.Arg382His	rs770506633	missense variant	-	NC_000012.12:g.52952315G>A	TOPMed,gnomAD
KRT18	P05783	p.Arg382Ser	rs11551627	missense variant	-	NC_000012.12:g.52952314C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg382Cys	rs11551627	missense variant	-	NC_000012.12:g.52952314C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Gly387Asp	rs757469736	missense variant	-	NC_000012.12:g.52952330G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Glu388Asp	rs999709039	missense variant	-	NC_000012.12:g.52952334G>T	TOPMed
KRT18	P05783	p.Glu388Lys	rs746093574	missense variant	-	NC_000012.12:g.52952332G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Asp389Asn	rs1202485697	missense variant	-	NC_000012.12:g.52952335G>A	gnomAD
KRT18	P05783	p.Phe390Ser	rs1274618434	missense variant	-	NC_000012.12:g.52952339T>C	gnomAD
KRT18	P05783	p.Asn391His	rs769672516	missense variant	-	NC_000012.12:g.52952341A>C	ExAC,gnomAD
KRT18	P05783	p.Gly393Asp	rs903196253	missense variant	-	NC_000012.12:g.52952727G>A	TOPMed,gnomAD
KRT18	P05783	p.Leu396Ser	rs781454348	missense variant	-	NC_000012.12:g.52952736T>C	ExAC,gnomAD
KRT18	P05783	p.Asn400Asp	rs1433088298	missense variant	-	NC_000012.12:g.52952747A>G	gnomAD
KRT18	P05783	p.Ser401Ala	rs1197102047	missense variant	-	NC_000012.12:g.52952750T>G	TOPMed
KRT18	P05783	p.Met402Val	rs746040565	missense variant	-	NC_000012.12:g.52952753A>G	ExAC,gnomAD
KRT18	P05783	p.Thr404Ile	rs1478754941	missense variant	-	NC_000012.12:g.52952760C>T	TOPMed
KRT18	P05783	p.Thr404Ala	rs1371758556	missense variant	-	NC_000012.12:g.52952759A>G	gnomAD
KRT18	P05783	p.Ile405Thr	rs1273623198	missense variant	-	NC_000012.12:g.52952763T>C	gnomAD
KRT18	P05783	p.Ile405Val	rs1443796983	missense variant	-	NC_000012.12:g.52952762A>G	gnomAD
KRT18	P05783	p.Lys407Glu	rs1000629681	missense variant	-	NC_000012.12:g.52952768A>G	TOPMed,gnomAD
KRT18	P05783	p.Thr408Ile	rs1484619017	missense variant	-	NC_000012.12:g.52952772C>T	TOPMed
KRT18	P05783	p.Thr410Asn	rs780366176	missense variant	-	NC_000012.12:g.52952778C>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr410Ile	rs780366176	missense variant	-	NC_000012.12:g.52952778C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Thr410Ser	rs780366176	missense variant	-	NC_000012.12:g.52952778C>G	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg411His	RCV000056432	missense variant	-	NC_000012.12:g.52952781G>A	ClinVar
KRT18	P05783	p.Arg411Cys	rs768557036	missense variant	-	NC_000012.12:g.52952780C>T	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg411His	rs148580152	missense variant	-	NC_000012.12:g.52952781G>A	ESP,TOPMed,gnomAD
KRT18	P05783	p.Arg412Gln	rs146080391	missense variant	-	NC_000012.12:g.52952784G>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Arg412Trp	rs774101880	missense variant	-	NC_000012.12:g.52952783C>T	ExAC,gnomAD
KRT18	P05783	p.Ile413Met	rs1477656651	missense variant	-	NC_000012.12:g.52952788A>G	gnomAD
KRT18	P05783	p.Ile413Thr	rs1244966651	missense variant	-	NC_000012.12:g.52952787T>C	gnomAD
KRT18	P05783	p.Gly416Asp	rs771518602	missense variant	-	NC_000012.12:g.52952796G>A	ExAC,TOPMed,gnomAD
KRT18	P05783	p.Val418Leu	rs772684603	missense variant	-	NC_000012.12:g.52952801G>T	ExAC,gnomAD
KRT18	P05783	p.Val419Glu	rs765942310	missense variant	-	NC_000012.12:g.52952805T>A	ExAC,gnomAD
KRT18	P05783	p.Asn423Ser	rs200552337	missense variant	-	NC_000012.12:g.52952817A>G	ESP,ExAC,TOPMed,gnomAD
KRT18	P05783	p.Lys426Glu	rs1331038097	missense variant	-	NC_000012.12:g.52952825A>G	gnomAD
KRT18	P05783	p.Leu428Pro	rs763169289	missense variant	-	NC_000012.12:g.52952832T>C	ExAC,gnomAD
KRT18	P05783	p.His430Asn	rs1303579109	missense variant	-	NC_000012.12:g.52952837C>A	TOPMed
ITGAV	P06756	p.Pro4Leu	rs748781253	missense variant	-	NC_000002.12:g.186590349C>T	ExAC,gnomAD
ITGAV	P06756	p.Pro5Arg	rs758858746	missense variant	-	NC_000002.12:g.186590352C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro5Leu	rs758858746	missense variant	-	NC_000002.12:g.186590352C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg6Pro	rs572317414	missense variant	-	NC_000002.12:g.186590355G>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg6Gly	rs559772110	missense variant	-	NC_000002.12:g.186590354C>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg6Gln	rs572317414	missense variant	-	NC_000002.12:g.186590355G>A	NCI-TCGA
ITGAV	P06756	p.Arg6Gln	rs572317414	missense variant	-	NC_000002.12:g.186590355G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg7Gln	rs1013173268	missense variant	-	NC_000002.12:g.186590358G>A	TOPMed,gnomAD
ITGAV	P06756	p.Arg8Pro	rs777070909	missense variant	-	NC_000002.12:g.186590361G>C	ExAC,gnomAD
ITGAV	P06756	p.Arg8Leu	rs777070909	missense variant	-	NC_000002.12:g.186590361G>T	ExAC,gnomAD
ITGAV	P06756	p.Leu9Arg	rs1246245359	missense variant	-	NC_000002.12:g.186590364T>G	TOPMed
ITGAV	P06756	p.Arg10Cys	COSM418963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186590366C>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Pro13Leu	rs1314303106	missense variant	-	NC_000002.12:g.186590376C>T	TOPMed
ITGAV	P06756	p.Gly15Val	rs763137058	missense variant	-	NC_000002.12:g.186590382G>T	ExAC,gnomAD
ITGAV	P06756	p.Gly15Ser	rs1275639587	missense variant	-	NC_000002.12:g.186590381G>A	TOPMed,gnomAD
ITGAV	P06756	p.Gly15Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186590381G>T	NCI-TCGA
ITGAV	P06756	p.Pro17Leu	rs1213204410	missense variant	-	NC_000002.12:g.186590388C>T	gnomAD
ITGAV	P06756	p.Leu18Phe	rs774327029	missense variant	-	NC_000002.12:g.186590390C>T	ExAC,gnomAD
ITGAV	P06756	p.Leu18His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186590391T>A	NCI-TCGA
ITGAV	P06756	p.Leu19Phe	rs759462165	missense variant	-	NC_000002.12:g.186590393C>T	ExAC,gnomAD
ITGAV	P06756	p.Leu20Pro	rs1475437332	missense variant	-	NC_000002.12:g.186590397T>C	gnomAD
ITGAV	P06756	p.Leu20Phe	rs767302238	missense variant	-	NC_000002.12:g.186590396C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly22Arg	rs1167005971	missense variant	-	NC_000002.12:g.186590402G>A	gnomAD
ITGAV	P06756	p.Leu23Phe	rs201836720	missense variant	-	NC_000002.12:g.186590405C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu23Phe	rs201836720	missense variant	-	NC_000002.12:g.186590405C>T	NCI-TCGA
ITGAV	P06756	p.Leu24Met	rs1351515652	missense variant	-	NC_000002.12:g.186590408C>A	NCI-TCGA
ITGAV	P06756	p.Leu24Met	rs1351515652	missense variant	-	NC_000002.12:g.186590408C>A	TOPMed
ITGAV	P06756	p.Leu25Val	rs377467727	missense variant	-	NC_000002.12:g.186590411C>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro26Leu	rs756850638	missense variant	-	NC_000002.12:g.186590415C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro26Ser	rs753401124	missense variant	-	NC_000002.12:g.186590414C>T	ExAC,gnomAD
ITGAV	P06756	p.Leu27Val	rs778283194	missense variant	-	NC_000002.12:g.186590417C>G	ExAC,gnomAD
ITGAV	P06756	p.Leu27Pro	rs1415851451	missense variant	-	NC_000002.12:g.186590418T>C	gnomAD
ITGAV	P06756	p.Cys28Gly	rs981382422	missense variant	-	NC_000002.12:g.186590420T>G	TOPMed
ITGAV	P06756	p.Phe31Ser	rs1210781894	missense variant	-	NC_000002.12:g.186590430T>C	TOPMed
ITGAV	P06756	p.Asn32Ser	rs1489650175	missense variant	-	NC_000002.12:g.186590433A>G	TOPMed
ITGAV	P06756	p.Asp34Glu	rs747523789	missense variant	-	NC_000002.12:g.186590440C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro38Ser	rs1318865880	missense variant	-	NC_000002.12:g.186590450C>T	gnomAD
ITGAV	P06756	p.Glu40Ala	rs1241814719	missense variant	-	NC_000002.12:g.186590457A>C	gnomAD
ITGAV	P06756	p.Glu40Asp	rs200993212	missense variant	-	NC_000002.12:g.186590458G>C	TOPMed
ITGAV	P06756	p.Pro44Ser	rs781708667	missense variant	-	NC_000002.12:g.186590468C>T	ExAC,gnomAD
ITGAV	P06756	p.Pro44Arg	rs748486456	missense variant	-	NC_000002.12:g.186590469C>G	ExAC,gnomAD
ITGAV	P06756	p.Glu45Gly	rs1255233125	missense variant	-	NC_000002.12:g.186590472A>G	gnomAD
ITGAV	P06756	p.Glu45Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186590471G>A	NCI-TCGA
ITGAV	P06756	p.Gly46LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.186590473_186590474GG>-	NCI-TCGA
ITGAV	P06756	p.Ser47Asn	rs1369400391	missense variant	-	NC_000002.12:g.186590478G>A	TOPMed
ITGAV	P06756	p.Tyr48Cys	rs770026678	missense variant	-	NC_000002.12:g.186590481A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Tyr48Asn	COSM301268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186590480T>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Phe49Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186590485C>G	NCI-TCGA
ITGAV	P06756	p.Phe49Leu	NCI-TCGA novel	inframe deletion	-	NC_000002.12:g.186590484_186590495TCGGCTTCGCCG>-	NCI-TCGA
ITGAV	P06756	p.Gly50Ala	rs1409500933	missense variant	-	NC_000002.12:g.186590487G>C	TOPMed,gnomAD
ITGAV	P06756	p.Phe51Leu	rs773536151	missense variant	-	NC_000002.12:g.186590489T>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala52Thr	rs1375738244	missense variant	-	NC_000002.12:g.186590492G>A	gnomAD
ITGAV	P06756	p.Val53Met	rs771104889	missense variant	-	NC_000002.12:g.186590495G>A	ExAC,gnomAD
ITGAV	P06756	p.Val53Ala	rs1354063059	missense variant	-	NC_000002.12:g.186590496T>C	gnomAD
ITGAV	P06756	p.Phe56Leu	rs201076250	missense variant	-	NC_000002.12:g.186590506C>G	1000Genomes,ExAC,gnomAD
ITGAV	P06756	p.Phe56Leu	rs200143768	missense variant	-	NC_000002.12:g.186590504T>C	TOPMed
ITGAV	P06756	p.Val57Met	rs1375618100	missense variant	-	NC_000002.12:g.186590507G>A	gnomAD
ITGAV	P06756	p.Pro58Ser	rs767392026	missense variant	-	NC_000002.12:g.186590510C>T	ExAC,gnomAD
ITGAV	P06756	p.Ser59Gly	rs775293729	missense variant	-	NC_000002.12:g.186590513A>G	ExAC,gnomAD
ITGAV	P06756	p.Ala60Val	rs763773972	missense variant	-	NC_000002.12:g.186590517C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala60Thr	rs1212703214	missense variant	-	NC_000002.12:g.186590516G>A	gnomAD
ITGAV	P06756	p.Ser62Phe	rs753592949	missense variant	-	NC_000002.12:g.186590523C>T	ExAC,gnomAD
ITGAV	P06756	p.Arg63Trp	rs142312022	missense variant	-	NC_000002.12:g.186602022C>T	NCI-TCGA,NCI-TCGA Cosmic
ITGAV	P06756	p.Arg63Trp	rs142312022	missense variant	-	NC_000002.12:g.186602022C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg63Gln	rs746980839	missense variant	-	NC_000002.12:g.186602023G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met64Val	rs768430610	missense variant	-	NC_000002.12:g.186602025A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met64Leu	rs768430610	missense variant	-	NC_000002.12:g.186602025A>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met64Lys	rs200511786	missense variant	-	NC_000002.12:g.186602026T>A	TOPMed,gnomAD
ITGAV	P06756	p.Leu67Phe	rs1352529063	missense variant	-	NC_000002.12:g.186602034C>T	gnomAD
ITGAV	P06756	p.Val68Met	rs201391436	missense variant	-	NC_000002.12:g.186602037G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val68Leu	rs201391436	missense variant	-	NC_000002.12:g.186602037G>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro71Ser	rs773060416	missense variant	-	NC_000002.12:g.186602046C>T	NCI-TCGA
ITGAV	P06756	p.Pro71Ser	rs773060416	missense variant	-	NC_000002.12:g.186602046C>T	ExAC,gnomAD
ITGAV	P06756	p.Gln77Ter	rs1029034370	stop gained	-	NC_000002.12:g.186602064C>T	TOPMed,gnomAD
ITGAV	P06756	p.Gln77His	rs762694683	missense variant	-	NC_000002.12:g.186602066G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gln77Lys	rs1029034370	missense variant	-	NC_000002.12:g.186602064C>A	TOPMed,gnomAD
ITGAV	P06756	p.Pro78Leu	rs773674342	missense variant	-	NC_000002.12:g.186602068C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro78Ala	rs376272954	missense variant	-	NC_000002.12:g.186602067C>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Glu82Gln	rs761263566	missense variant	-	NC_000002.12:g.186602079G>C	ExAC,gnomAD
ITGAV	P06756	p.Gly84Trp	rs987168910	missense variant	-	NC_000002.12:g.186602085G>T	TOPMed,gnomAD
ITGAV	P06756	p.Lys88Arg	rs754337745	missense variant	-	NC_000002.12:g.186602098A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Trp91Cys	rs1302177100	missense variant	-	NC_000002.12:g.186602108G>T	gnomAD
ITGAV	P06756	p.Ser92Phe	rs757666067	missense variant	-	NC_000002.12:g.186602110C>T	ExAC
ITGAV	P06756	p.Thr94Ile	rs150221000	missense variant	-	NC_000002.12:g.186602116C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Thr94Pro	rs750649139	missense variant	-	NC_000002.12:g.186602115A>C	ExAC,gnomAD
ITGAV	P06756	p.Arg95His	rs1305265951	missense variant	-	NC_000002.12:g.186602119G>A	TOPMed,gnomAD
ITGAV	P06756	p.Arg95Gly	rs199804238	missense variant	-	NC_000002.12:g.186602118C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg95Cys	rs199804238	missense variant	-	NC_000002.12:g.186602118C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg95His	rs1305265951	missense variant	-	NC_000002.12:g.186602119G>A	NCI-TCGA
ITGAV	P06756	p.Arg96Gln	rs201909609	missense variant	-	NC_000002.12:g.186602122G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg96Trp	rs200516634	missense variant	-	NC_000002.12:g.186602121C>T	NCI-TCGA,NCI-TCGA Cosmic
ITGAV	P06756	p.Arg96Trp	rs200516634	missense variant	-	NC_000002.12:g.186602121C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg96Gln	rs201909609	missense variant	-	NC_000002.12:g.186602122G>A	NCI-TCGA
ITGAV	P06756	p.Ile100Val	rs201231113	missense variant	-	NC_000002.12:g.186602133A>G	NCI-TCGA
ITGAV	P06756	p.Ile100Thr	rs1287468398	missense variant	-	NC_000002.12:g.186602134T>C	TOPMed
ITGAV	P06756	p.Ile100Leu	rs201231113	missense variant	-	NC_000002.12:g.186602133A>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile100Val	rs201231113	missense variant	-	NC_000002.12:g.186602133A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile100Phe	COSM3798422	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186602133A>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Glu101Asp	rs1481264488	missense variant	-	NC_000002.12:g.186602138A>T	gnomAD
ITGAV	P06756	p.Glu101Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186602138A>C	NCI-TCGA
ITGAV	P06756	p.Asp103Gly	rs1430725633	missense variant	-	NC_000002.12:g.186602143A>G	TOPMed
ITGAV	P06756	p.Thr105Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186602148A>G	NCI-TCGA
ITGAV	P06756	p.Asn107Asp	rs1168435795	missense variant	-	NC_000002.12:g.186622341A>G	gnomAD
ITGAV	P06756	p.Asn107Ser	rs756061483	missense variant	-	NC_000002.12:g.186622342A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg108Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186622344A>G	NCI-TCGA
ITGAV	P06756	p.Arg108Thr	rs1307304027	missense variant	-	NC_000002.12:g.186622345G>C	gnomAD
ITGAV	P06756	p.Arg108Thr	rs1307304027	missense variant	-	NC_000002.12:g.186622345G>C	NCI-TCGA Cosmic
ITGAV	P06756	p.Asp109Glu	rs200368244	missense variant	-	NC_000002.12:g.186622349T>G	ExAC,gnomAD
ITGAV	P06756	p.Tyr110Ter	COSM1318127	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186622352T>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Ala111Ser	rs749054477	missense variant	-	NC_000002.12:g.186622353G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala111Gly	rs1347707089	missense variant	-	NC_000002.12:g.186622354C>G	gnomAD
ITGAV	P06756	p.Ala111Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186622354C>A	NCI-TCGA
ITGAV	P06756	p.Pro115Ala	rs770730648	missense variant	-	NC_000002.12:g.186622365C>G	ExAC,gnomAD
ITGAV	P06756	p.His121Gln	rs1402306000	missense variant	-	NC_000002.12:g.186622385T>A	gnomAD
ITGAV	P06756	p.Trp123Gly	rs957951974	missense variant	-	NC_000002.12:g.186622389T>G	TOPMed,gnomAD
ITGAV	P06756	p.Ser127Phe	rs559990234	missense variant	-	NC_000002.12:g.186622402C>T	1000Genomes,ExAC,gnomAD
ITGAV	P06756	p.Val128Met	rs775007507	missense variant	-	NC_000002.12:g.186622404G>A	ExAC,gnomAD
ITGAV	P06756	p.Arg129Lys	rs762330134	missense variant	-	NC_000002.12:g.186622408G>A	ExAC,gnomAD
ITGAV	P06756	p.Arg129Trp	rs1275146534	missense variant	-	NC_000002.12:g.186622407A>T	TOPMed,gnomAD
ITGAV	P06756	p.Arg129Gly	rs1275146534	missense variant	-	NC_000002.12:g.186622407A>G	TOPMed,gnomAD
ITGAV	P06756	p.Ser130Leu	rs770245126	missense variant	-	NC_000002.12:g.186622411C>T	ExAC,gnomAD
ITGAV	P06756	p.Lys131ThrTer	rs762770151	stop gained	-	NC_000002.12:g.186622413_186622414insCCT	ExAC,gnomAD
ITGAV	P06756	p.Gln132Glu	rs1424844364	missense variant	-	NC_000002.12:g.186622416C>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Gln132Glu	rs1424844364	missense variant	-	NC_000002.12:g.186622416C>G	TOPMed
ITGAV	P06756	p.Asp133Tyr	rs763354872	missense variant	-	NC_000002.12:g.186622419G>T	ExAC,gnomAD
ITGAV	P06756	p.Lys134Thr	rs201507967	missense variant	-	NC_000002.12:g.186622423A>C	gnomAD
ITGAV	P06756	p.Lys134Thr	rs201507967	missense variant	-	NC_000002.12:g.186622423A>C	NCI-TCGA,NCI-TCGA Cosmic
ITGAV	P06756	p.Leu141Ser	rs888441575	missense variant	-	NC_000002.12:g.186625486T>C	TOPMed
ITGAV	P06756	p.His143Arg	rs1336656683	missense variant	-	NC_000002.12:g.186625492A>G	gnomAD
ITGAV	P06756	p.Trp144Cys	rs1357935457	missense variant	-	NC_000002.12:g.186625496G>C	gnomAD
ITGAV	P06756	p.Trp144Ter	rs1357935457	stop gained	-	NC_000002.12:g.186625496G>A	gnomAD
ITGAV	P06756	p.Arg145Ile	COSM1013825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186625498G>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Arg152Ter	rs1298845598	stop gained	-	NC_000002.12:g.186625518C>T	TOPMed,gnomAD
ITGAV	P06756	p.Arg152Gln	rs745888292	missense variant	-	NC_000002.12:g.186625519G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro154SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.186625518_186625519insGA	NCI-TCGA
ITGAV	P06756	p.Val155Ala	rs764258113	missense variant	-	NC_000002.12:g.186625528T>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly156Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186625531G>A	NCI-TCGA
ITGAV	P06756	p.Thr157Ala	rs1348310521	missense variant	-	NC_000002.12:g.186625533A>G	gnomAD
ITGAV	P06756	p.Thr157Lys	rs753894261	missense variant	-	NC_000002.12:g.186625534C>A	ExAC,gnomAD
ITGAV	P06756	p.Leu160Ile	COSM1013827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186625542C>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Thr166Ala	rs750191577	missense variant	-	NC_000002.12:g.186625560A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Glu168Asp	COSM4089528	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186625568G>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Glu168Gln	rs779728433	missense variant	-	NC_000002.12:g.186625566G>C	ExAC,gnomAD
ITGAV	P06756	p.Glu168Asp	rs1369157110	missense variant	-	NC_000002.12:g.186625568G>C	TOPMed
ITGAV	P06756	p.Pro171LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.186625575_186625576insTATACTACTT	NCI-TCGA
ITGAV	P06756	p.Cys172Arg	rs1174712727	missense variant	-	NC_000002.12:g.186625578T>C	gnomAD
ITGAV	P06756	p.Arg173Lys	rs370978233	missense variant	-	NC_000002.12:g.186625582G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg173Ile	rs370978233	missense variant	-	NC_000002.12:g.186625582G>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg173Gly	rs749768346	missense variant	-	NC_000002.12:g.186625581A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser174Thr	rs1407680548	missense variant	-	NC_000002.12:g.186625584T>A	TOPMed
ITGAV	P06756	p.Gln175Lys	rs1444729905	missense variant	-	NC_000002.12:g.186625587C>A	gnomAD
ITGAV	P06756	p.Asp176His	rs751214233	missense variant	-	NC_000002.12:g.186630799G>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asp176Tyr	rs751214233	missense variant	-	NC_000002.12:g.186630799G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asp176Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186630801T>A	NCI-TCGA
ITGAV	P06756	p.Asp178Asn	rs201182344	missense variant	-	NC_000002.12:g.186630805G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly181Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186630815G>T	NCI-TCGA
ITGAV	P06756	p.Cys185Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186630827G>A	NCI-TCGA
ITGAV	P06756	p.Gly188Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186630836G>A	NCI-TCGA
ITGAV	P06756	p.Ile191Val	rs1273250738	missense variant	-	NC_000002.12:g.186630844A>G	gnomAD
ITGAV	P06756	p.Asp192Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186630847G>T	NCI-TCGA
ITGAV	P06756	p.Asp192His	COSM1013829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186630847G>C	NCI-TCGA Cosmic
ITGAV	P06756	p.Thr194Ser	rs1357902610	missense variant	-	NC_000002.12:g.186630854C>G	gnomAD
ITGAV	P06756	p.Lys195Glu	rs558224721	missense variant	-	NC_000002.12:g.186630856A>G	1000Genomes,ExAC,gnomAD
ITGAV	P06756	p.Asp197Glu	rs1185509402	missense variant	-	NC_000002.12:g.186633334C>G	gnomAD
ITGAV	P06756	p.Asp197Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186633332G>A	NCI-TCGA
ITGAV	P06756	p.Arg198Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186633336G>T	NCI-TCGA
ITGAV	P06756	p.Val199Ile	rs202112395	missense variant	-	NC_000002.12:g.186633338G>A	ExAC,gnomAD
ITGAV	P06756	p.Leu201Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186633344C>T	NCI-TCGA
ITGAV	P06756	p.Leu201Val	rs758917438	missense variant	-	NC_000002.12:g.186633344C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly202Val	rs1388619626	missense variant	-	NC_000002.12:g.186633348G>T	gnomAD
ITGAV	P06756	p.Gly203Cys	rs959139623	missense variant	-	NC_000002.12:g.186633350G>T	gnomAD
ITGAV	P06756	p.Pro204Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186633354C>G	NCI-TCGA
ITGAV	P06756	p.Ser206Gly	rs1433520697	missense variant	-	NC_000002.12:g.186633359A>G	gnomAD
ITGAV	P06756	p.Ser206Ile	rs1404276802	missense variant	-	NC_000002.12:g.186633360G>T	gnomAD
ITGAV	P06756	p.Phe207Ile	rs1393753116	missense variant	-	NC_000002.12:g.186633362T>A	gnomAD
ITGAV	P06756	p.Gly211Ser	rs1458699725	missense variant	-	NC_000002.12:g.186633374G>A	TOPMed
ITGAV	P06756	p.Gln212Ter	COSM3425850	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186636084C>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Ile214Thr	rs1255984698	missense variant	-	NC_000002.12:g.186636091T>C	gnomAD
ITGAV	P06756	p.Ile214Val	rs748413227	missense variant	-	NC_000002.12:g.186636090A>G	ExAC,gnomAD
ITGAV	P06756	p.Ser215Leu	rs761237786	missense variant	-	NC_000002.12:g.186636094C>T	NCI-TCGA
ITGAV	P06756	p.Ser215Leu	rs761237786	missense variant	-	NC_000002.12:g.186636094C>T	ExAC,gnomAD
ITGAV	P06756	p.Asp216Asn	rs1256353880	missense variant	-	NC_000002.12:g.186636096G>A	gnomAD
ITGAV	P06756	p.Val222Ile	rs200647242	missense variant	-	NC_000002.12:g.186636114G>A	NCI-TCGA
ITGAV	P06756	p.Val222Ile	rs200647242	missense variant	-	NC_000002.12:g.186636114G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Lys224Arg	rs759468300	missense variant	-	NC_000002.12:g.186636121A>G	ExAC,gnomAD
ITGAV	P06756	p.Asp226Asn	rs775092026	missense variant	-	NC_000002.12:g.186636126G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asp226Asn	rs775092026	missense variant	-	NC_000002.12:g.186636126G>A	NCI-TCGA
ITGAV	P06756	p.Asp226Glu	rs1167954842	missense variant	-	NC_000002.12:g.186636128C>A	gnomAD
ITGAV	P06756	p.Asp226Tyr	rs775092026	missense variant	-	NC_000002.12:g.186636126G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro227Leu	rs1471160163	missense variant	-	NC_000002.12:g.186636130C>T	TOPMed
ITGAV	P06756	p.Pro227Ser	rs760398503	missense variant	-	NC_000002.12:g.186636129C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro227Thr	rs760398503	missense variant	-	NC_000002.12:g.186636129C>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro227Ala	rs760398503	missense variant	-	NC_000002.12:g.186636129C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn228Ser	rs200674397	missense variant	-	NC_000002.12:g.186636133A>G	gnomAD
ITGAV	P06756	p.Ser231Asn	rs367683819	missense variant	-	NC_000002.12:g.186636142G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser231Arg	rs868199933	missense variant	-	NC_000002.12:g.186636143C>A	TOPMed
ITGAV	P06756	p.Ile232Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186636144A>C	NCI-TCGA
ITGAV	P06756	p.Ile232Met	rs761467033	missense variant	-	NC_000002.12:g.186636146C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile232Val	rs1370166490	missense variant	-	NC_000002.12:g.186636144A>G	gnomAD
ITGAV	P06756	p.Lys233Glu	rs1178436168	missense variant	-	NC_000002.12:g.186636147A>G	TOPMed
ITGAV	P06756	p.Asn236Thr	rs764832885	missense variant	-	NC_000002.12:g.186636157A>C	ExAC,gnomAD
ITGAV	P06756	p.Asn236Lys	rs150746738	missense variant	-	NC_000002.12:g.186636158C>G	ESP,ExAC,gnomAD
ITGAV	P06756	p.Arg241Trp	rs372449821	missense variant	-	NC_000002.12:g.186636171C>T	ESP,TOPMed,gnomAD
ITGAV	P06756	p.Arg241Gln	rs376680231	missense variant	-	NC_000002.12:g.186636172G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Thr242Ser	rs1204266168	missense variant	-	NC_000002.12:g.186636174A>T	TOPMed
ITGAV	P06756	p.Ala243Val	rs752959691	missense variant	-	NC_000002.12:g.186636178C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala245Thr	rs1487349895	missense variant	-	NC_000002.12:g.186636183G>A	TOPMed,gnomAD
ITGAV	P06756	p.Ile246Asn	rs777910458	missense variant	-	NC_000002.12:g.186636187T>A	ExAC,gnomAD
ITGAV	P06756	p.Asp249Gly	COSM718924	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186636196A>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Ser250Gly	rs1309159616	missense variant	-	NC_000002.12:g.186636198A>G	TOPMed
ITGAV	P06756	p.Tyr251Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186636202A>G	NCI-TCGA
ITGAV	P06756	p.Leu252Trp	rs1160713535	missense variant	-	NC_000002.12:g.186636205T>G	TOPMed,gnomAD
ITGAV	P06756	p.Gly253Arg	rs757397558	missense variant	-	NC_000002.12:g.186636207G>C	ExAC,gnomAD
ITGAV	P06756	p.Ser255Phe	rs764439840	missense variant	-	NC_000002.12:g.186637071C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser255Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186637071C>A	NCI-TCGA
ITGAV	P06756	p.Val258Gly	rs757414002	missense variant	-	NC_000002.12:g.186637080T>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val258Leu	rs377471624	missense variant	-	NC_000002.12:g.186637079G>C	ESP,ExAC,gnomAD
ITGAV	P06756	p.Val258Ala	rs757414002	missense variant	-	NC_000002.12:g.186637080T>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val258Ile	COSM4089530	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186637079G>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Gly259Arg	rs1273377739	missense variant	-	NC_000002.12:g.186637082G>A	TOPMed
ITGAV	P06756	p.Phe261Leu	rs113154595	missense variant	-	NC_000002.12:g.186637090C>A	TOPMed
ITGAV	P06756	p.Asn262Ser	rs184114187	missense variant	-	NC_000002.12:g.186637092A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn262Asp	rs779913662	missense variant	-	NC_000002.12:g.186637091A>G	ExAC,gnomAD
ITGAV	P06756	p.Ile266TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.186637101_186637102insATGGACAATGAGAGGATGGGGTAATAAC	NCI-TCGA
ITGAV	P06756	p.Asp268His	rs1345121041	missense variant	-	NC_000002.12:g.186637109G>C	gnomAD
ITGAV	P06756	p.Val270Ala	rs1220866470	missense variant	-	NC_000002.12:g.186638283T>C	gnomAD
ITGAV	P06756	p.Ser271Ter	COSM4089532	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186638286C>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Ser271Pro	rs202002317	missense variant	-	NC_000002.12:g.186638285T>C	1000Genomes
ITGAV	P06756	p.Val273Ile	rs200557809	missense variant	-	NC_000002.12:g.186638291G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala276Thr	COSM1013831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186638300G>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Arg278Lys	rs199603191	missense variant	-	NC_000002.12:g.186638307G>A	-
ITGAV	P06756	p.Tyr284Cys	rs1425871415	missense variant	-	NC_000002.12:g.186638413A>G	TOPMed,gnomAD
ITGAV	P06756	p.Tyr286Cys	rs1476914143	missense variant	-	NC_000002.12:g.186638419A>G	gnomAD
ITGAV	P06756	p.Asp287Asn	rs781325608	missense variant	-	NC_000002.12:g.186638421G>A	ExAC,gnomAD
ITGAV	P06756	p.Asn290Lys	rs1406835401	missense variant	-	NC_000002.12:g.186638432C>G	gnomAD
ITGAV	P06756	p.Asn290Asp	rs1391724682	missense variant	-	NC_000002.12:g.186638430A>G	gnomAD
ITGAV	P06756	p.Met291Val	rs752664881	missense variant	-	NC_000002.12:g.186638433A>G	ExAC
ITGAV	P06756	p.Met291Thr	rs756042949	missense variant	-	NC_000002.12:g.186638434T>C	ExAC,gnomAD
ITGAV	P06756	p.Ser292Pro	rs370560229	missense variant	-	NC_000002.12:g.186638436T>C	ESP
ITGAV	P06756	p.Leu294Ser	rs1336359288	missense variant	-	NC_000002.12:g.186638443T>C	gnomAD
ITGAV	P06756	p.Tyr295Ser	rs1039670607	missense variant	-	NC_000002.12:g.186638446A>C	TOPMed,gnomAD
ITGAV	P06756	p.Asn296Ser	rs777559283	missense variant	-	NC_000002.12:g.186638449A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Phe297Val	rs748910834	missense variant	-	NC_000002.12:g.186638451T>G	ExAC,gnomAD
ITGAV	P06756	p.Gly299Ser	rs199654707	missense variant	-	NC_000002.12:g.186638457G>A	ExAC,gnomAD
ITGAV	P06756	p.Glu300Lys	rs201930300	missense variant	-	NC_000002.12:g.186638460G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met302Ile	rs745507823	missense variant	-	NC_000002.12:g.186640917G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Tyr305Phe	rs757907099	missense variant	-	NC_000002.12:g.186640925A>T	ExAC,gnomAD
ITGAV	P06756	p.Phe306Leu	rs556910791	missense variant	-	NC_000002.12:g.186640929C>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly307Arg	rs1000625322	missense variant	-	NC_000002.12:g.186640930G>A	gnomAD
ITGAV	P06756	p.Ser309Phe	rs773557891	missense variant	-	NC_000002.12:g.186640937C>T	ExAC,gnomAD
ITGAV	P06756	p.Val310Leu	rs749707395	missense variant	-	NC_000002.12:g.186640939G>T	ExAC
ITGAV	P06756	p.Val310Glu	rs771183937	missense variant	-	NC_000002.12:g.186640940T>A	ExAC,gnomAD
ITGAV	P06756	p.Ala311Thr	rs200171726	missense variant	-	NC_000002.12:g.186640942G>A	ExAC,gnomAD
ITGAV	P06756	p.Ala311Pro	rs200171726	missense variant	-	NC_000002.12:g.186640942G>C	ExAC,gnomAD
ITGAV	P06756	p.Ala312Ser	rs200935847	missense variant	-	NC_000002.12:g.186640945G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala312Gly	rs1447912228	missense variant	-	NC_000002.12:g.186640946C>G	gnomAD
ITGAV	P06756	p.Thr313Ala	rs1439732271	missense variant	-	NC_000002.12:g.186640948A>G	TOPMed
ITGAV	P06756	p.Ile315Val	rs775667300	missense variant	-	NC_000002.12:g.186640954A>G	ExAC,gnomAD
ITGAV	P06756	p.Asn316Asp	rs761276322	missense variant	-	NC_000002.12:g.186640957A>G	ExAC,gnomAD
ITGAV	P06756	p.Asp319Gly	rs575373090	missense variant	-	NC_000002.12:g.186640967A>G	1000Genomes,ExAC,gnomAD
ITGAV	P06756	p.Asp319Glu	COSM3575180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186641386T>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Tyr320Asn	rs775824713	missense variant	-	NC_000002.12:g.186641387T>A	ExAC,gnomAD
ITGAV	P06756	p.Ala321Val	rs768606575	missense variant	-	NC_000002.12:g.186641391C>T	ExAC,gnomAD
ITGAV	P06756	p.Val323Leu	rs199660104	missense variant	-	NC_000002.12:g.186641396G>T	gnomAD
ITGAV	P06756	p.Val323Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186641397T>C	NCI-TCGA
ITGAV	P06756	p.Ile325Phe	rs776699083	missense variant	-	NC_000002.12:g.186641402A>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile325Thr	rs1476456838	missense variant	-	NC_000002.12:g.186641403T>C	TOPMed
ITGAV	P06756	p.Gly326Val	rs761596881	missense variant	-	NC_000002.12:g.186641406G>T	ExAC,gnomAD
ITGAV	P06756	p.Ala327Glu	rs765100125	missense variant	-	NC_000002.12:g.186641409C>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala327Val	rs765100125	missense variant	-	NC_000002.12:g.186641409C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu329Ile	rs1167808387	missense variant	-	NC_000002.12:g.186641414C>A	TOPMed,gnomAD
ITGAV	P06756	p.Met331Val	rs750178358	missense variant	-	NC_000002.12:g.186641420A>G	ExAC,gnomAD
ITGAV	P06756	p.Asp332Tyr	rs762705216	missense variant	-	NC_000002.12:g.186641423G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg333Cys	rs894915282	missense variant	-	NC_000002.12:g.186641426C>T	TOPMed,gnomAD
ITGAV	P06756	p.Arg333His	rs1367895529	missense variant	-	NC_000002.12:g.186641427G>A	TOPMed,gnomAD
ITGAV	P06756	p.Gly334Asp	COSM1013833	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186641430G>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Lys338Arg	rs1403635009	missense variant	-	NC_000002.12:g.186641442A>G	gnomAD
ITGAV	P06756	p.Leu339Phe	rs1389911250	missense variant	-	NC_000002.12:g.186641444C>T	TOPMed,gnomAD
ITGAV	P06756	p.Val342Gly	rs1271961094	missense variant	-	NC_000002.12:g.186641454T>G	TOPMed
ITGAV	P06756	p.Gln344Leu	rs751195662	missense variant	-	NC_000002.12:g.186641460A>T	ExAC,gnomAD
ITGAV	P06756	p.Val345Phe	rs754580585	missense variant	-	NC_000002.12:g.186641462G>T	ExAC,gnomAD
ITGAV	P06756	p.Val347Leu	COSM71211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186641468G>C	NCI-TCGA Cosmic
ITGAV	P06756	p.Ser348Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186641471T>G	NCI-TCGA
ITGAV	P06756	p.Leu349Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186641475T>A	NCI-TCGA
ITGAV	P06756	p.Gln350Ter	rs140715466	stop gained	-	NC_000002.12:g.186641477C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gln350Lys	rs140715466	missense variant	-	NC_000002.12:g.186641477C>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gln350Leu	rs757658780	missense variant	-	NC_000002.12:g.186641478A>T	ExAC,gnomAD
ITGAV	P06756	p.Ala352Thr	rs1263833811	missense variant	-	NC_000002.12:g.186641483G>A	gnomAD
ITGAV	P06756	p.Gly354Arg	rs746278749	missense variant	-	NC_000002.12:g.186641489G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Phe356Leu	rs772544431	missense variant	-	NC_000002.12:g.186641497C>A	ExAC,gnomAD
ITGAV	P06756	p.Gln357His	rs1260492183	missense variant	-	NC_000002.12:g.186641500G>T	gnomAD
ITGAV	P06756	p.Gln357Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186641499A>T	NCI-TCGA
ITGAV	P06756	p.Thr358Met	rs375790223	missense variant	-	NC_000002.12:g.186641502C>T	TOPMed,gnomAD
ITGAV	P06756	p.Phe364Leu	rs994054531	missense variant	-	NC_000002.12:g.186641519T>C	TOPMed,gnomAD
ITGAV	P06756	p.Glu365Asp	rs1287163888	missense variant	-	NC_000002.12:g.186641524G>C	gnomAD
ITGAV	P06756	p.Glu365Gln	rs1432912509	missense variant	-	NC_000002.12:g.186641522G>C	TOPMed,gnomAD
ITGAV	P06756	p.Val366Ile	rs1170369810	missense variant	-	NC_000002.12:g.186641525G>A	TOPMed
ITGAV	P06756	p.Phe367Ser	rs146613742	missense variant	-	NC_000002.12:g.186641529T>C	ESP,ExAC,gnomAD
ITGAV	P06756	p.Ala368Thr	rs761839787	missense variant	-	NC_000002.12:g.186641531G>A	ExAC,gnomAD
ITGAV	P06756	p.Arg369Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186641534C>T	NCI-TCGA
ITGAV	P06756	p.Arg369Gln	rs758051628	missense variant	-	NC_000002.12:g.186641535G>A	ExAC,gnomAD
ITGAV	P06756	p.Phe370Cys	COSM1013837	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186641538T>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Gly371Asp	rs773108558	missense variant	-	NC_000002.12:g.186641541G>A	ExAC,gnomAD
ITGAV	P06756	p.Ala373Thr	rs762789369	missense variant	-	NC_000002.12:g.186641546G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile374Val	rs200664669	missense variant	-	NC_000002.12:g.186641549A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile374Met	rs1208618736	missense variant	-	NC_000002.12:g.186641551A>G	TOPMed,gnomAD
ITGAV	P06756	p.Pro376Ser	rs373402521	missense variant	-	NC_000002.12:g.186641555C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly378Glu	rs767080398	missense variant	-	NC_000002.12:g.186641562G>A	ExAC,gnomAD
ITGAV	P06756	p.Asp379Val	rs1443125036	missense variant	-	NC_000002.12:g.186641565A>T	gnomAD
ITGAV	P06756	p.Gln382Arg	rs1193694625	missense variant	-	NC_000002.12:g.186641574A>G	TOPMed
ITGAV	P06756	p.Asp383Val	rs1183386440	missense variant	-	NC_000002.12:g.186641577A>T	TOPMed,gnomAD
ITGAV	P06756	p.Gly384Asp	rs537982004	missense variant	-	NC_000002.12:g.186641580G>A	1000Genomes,ExAC,gnomAD
ITGAV	P06756	p.Ile388Thr	rs377123218	missense variant	-	NC_000002.12:g.186646689T>C	ESP,TOPMed,gnomAD
ITGAV	P06756	p.Ala389Thr	rs767119814	missense variant	-	NC_000002.12:g.186646691G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala389Val	rs145167954	missense variant	-	NC_000002.12:g.186646692C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala392Ser	rs1179223729	missense variant	-	NC_000002.12:g.186646700G>T	TOPMed
ITGAV	P06756	p.Pro393Leu	COSM3575184	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186646704C>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Tyr394Cys	rs1232758773	missense variant	-	NC_000002.12:g.186646707A>G	TOPMed,gnomAD
ITGAV	P06756	p.Tyr394Phe	rs1232758773	missense variant	-	NC_000002.12:g.186646707A>T	TOPMed,gnomAD
ITGAV	P06756	p.Gly396Val	rs201819463	missense variant	-	NC_000002.12:g.186646713G>T	TOPMed
ITGAV	P06756	p.Gly396Asp	rs201819463	missense variant	-	NC_000002.12:g.186646713G>A	TOPMed
ITGAV	P06756	p.Asp398Val	rs750971373	missense variant	-	NC_000002.12:g.186646719A>T	ExAC,gnomAD
ITGAV	P06756	p.Asp398Tyr	COSM1403920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186646718G>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Lys400Arg	rs1480159867	missense variant	-	NC_000002.12:g.186646725A>G	gnomAD
ITGAV	P06756	p.Lys400Thr	COSM1403922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186646725A>C	NCI-TCGA Cosmic
ITGAV	P06756	p.Gly401Arg	rs1171573467	missense variant	-	NC_000002.12:g.186646727G>A	gnomAD
ITGAV	P06756	p.Gly401GluPheSerTerUnkUnk	COSM1403921	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186646721A>-	NCI-TCGA Cosmic
ITGAV	P06756	p.Ile402Phe	rs551272614	missense variant	-	NC_000002.12:g.186646730A>T	1000Genomes
ITGAV	P06756	p.Ile402Val	rs551272614	missense variant	-	NC_000002.12:g.186646730A>G	1000Genomes
ITGAV	P06756	p.Val403Ile	rs569411702	missense variant	-	NC_000002.12:g.186646733G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Tyr404Phe	rs766879669	missense variant	-	NC_000002.12:g.186646737A>T	ExAC,gnomAD
ITGAV	P06756	p.Tyr404Cys	rs766879669	missense variant	-	NC_000002.12:g.186646737A>G	ExAC,gnomAD
ITGAV	P06756	p.Ile405Val	rs3738918	missense variant	-	NC_000002.12:g.186646739A>G	UniProt,dbSNP
ITGAV	P06756	p.Ile405Val	VAR_024289	missense variant	-	NC_000002.12:g.186646739A>G	UniProt
ITGAV	P06756	p.Ile405Val	rs3738918	missense variant	-	NC_000002.12:g.186646739A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn407Asp	rs755347739	missense variant	-	NC_000002.12:g.186646745A>G	ExAC,gnomAD
ITGAV	P06756	p.Asn407Ser	rs200746724	missense variant	-	NC_000002.12:g.186646746A>G	ExAC,gnomAD
ITGAV	P06756	p.Asn407Ile	rs200746724	missense variant	-	NC_000002.12:g.186646746A>T	ExAC,gnomAD
ITGAV	P06756	p.Arg409Ile	rs143468341	missense variant	-	NC_000002.12:g.186646752G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg409Lys	rs143468341	missense variant	-	NC_000002.12:g.186646752G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser410Pro	COSM1403923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186646754T>C	NCI-TCGA Cosmic
ITGAV	P06756	p.Thr411Ala	rs749248681	missense variant	-	NC_000002.12:g.186646757A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly412Ser	rs370277214	missense variant	-	NC_000002.12:g.186646760G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly412Val	rs1402501472	missense variant	-	NC_000002.12:g.186646761G>T	TOPMed
ITGAV	P06756	p.Leu413Phe	rs774317419	missense variant	-	NC_000002.12:g.186646765G>C	ExAC,gnomAD
ITGAV	P06756	p.Ala415Val	rs775073468	missense variant	-	NC_000002.12:g.186646770C>T	ExAC,gnomAD
ITGAV	P06756	p.Ala415Thr	rs543038574	missense variant	-	NC_000002.12:g.186646769G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala415Ser	rs543038574	missense variant	-	NC_000002.12:g.186646769G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val416Ile	rs760338153	missense variant	-	NC_000002.12:g.186646772G>A	ExAC,gnomAD
ITGAV	P06756	p.Val416Gly	rs982119856	missense variant	-	NC_000002.12:g.186646773T>G	TOPMed
ITGAV	P06756	p.Pro417Ala	rs201689701	missense variant	-	NC_000002.12:g.186646775C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser418Phe	rs761374790	missense variant	-	NC_000002.12:g.186646779C>T	ExAC,gnomAD
ITGAV	P06756	p.Glu422Lys	COSM441956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186646790G>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Gly423Arg	rs1167622698	missense variant	-	NC_000002.12:g.186646793G>A	gnomAD
ITGAV	P06756	p.Trp425Gly	rs141692700	missense variant	-	NC_000002.12:g.186646799T>G	ESP,TOPMed
ITGAV	P06756	p.Ala426Val	rs1259909464	missense variant	-	NC_000002.12:g.186646803C>T	TOPMed
ITGAV	P06756	p.Arg428Gln	rs754174458	missense variant	-	NC_000002.12:g.186646809G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg428Ter	rs201541903	stop gained	-	NC_000002.12:g.186646808C>T	ExAC
ITGAV	P06756	p.Arg428Leu	rs754174458	missense variant	-	NC_000002.12:g.186646809G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met430Ile	COSM1013839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186646816G>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Tyr436Cys	rs201332846	missense variant	-	NC_000002.12:g.186646833A>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser437Leu	rs932743686	missense variant	-	NC_000002.12:g.186646836C>T	TOPMed
ITGAV	P06756	p.Ala441Gly	rs1429576456	missense variant	-	NC_000002.12:g.186646848C>G	gnomAD
ITGAV	P06756	p.Ala441Thr	rs1230947126	missense variant	-	NC_000002.12:g.186646847G>A	gnomAD
ITGAV	P06756	p.Asp443Asn	rs1360535870	missense variant	-	NC_000002.12:g.186646853G>A	gnomAD
ITGAV	P06756	p.Ile444Thr	rs757308379	missense variant	-	NC_000002.12:g.186646857T>C	ExAC
ITGAV	P06756	p.Lys446Glu	rs1290161417	missense variant	-	NC_000002.12:g.186646862A>G	gnomAD
ITGAV	P06756	p.Lys446Arg	rs778777955	missense variant	-	NC_000002.12:g.186646863A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn447Tyr	COSM3575186	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186646865A>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Gly448Arg	rs745813419	missense variant	-	NC_000002.12:g.186646868G>C	ExAC,gnomAD
ITGAV	P06756	p.Pro450Leu	rs771768690	missense variant	-	NC_000002.12:g.186646875C>T	ExAC,gnomAD
ITGAV	P06756	p.Val454Leu	rs1462806178	missense variant	-	NC_000002.12:g.186649848G>T	gnomAD
ITGAV	P06756	p.Gly455Arg	rs1202052275	missense variant	-	NC_000002.12:g.186649851G>C	gnomAD
ITGAV	P06756	p.Ala456Val	rs200462398	missense variant	-	NC_000002.12:g.186649855C>T	ExAC,gnomAD
ITGAV	P06756	p.Ala456Gly	rs200462398	missense variant	-	NC_000002.12:g.186649855C>G	ExAC,gnomAD
ITGAV	P06756	p.Phe457Ser	rs778984947	missense variant	-	NC_000002.12:g.186649858T>C	ExAC,gnomAD
ITGAV	P06756	p.Asp460His	rs1362025004	missense variant	-	NC_000002.12:g.186649866G>C	gnomAD
ITGAV	P06756	p.Arg461Gln	rs750343053	missense variant	-	NC_000002.12:g.186649870G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg461Leu	rs750343053	missense variant	-	NC_000002.12:g.186649870G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg461Ter	COSM1013841	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186649869C>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Ala462Thr	rs758309110	missense variant	-	NC_000002.12:g.186649872G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala462Gly	rs1335737388	missense variant	-	NC_000002.12:g.186649873C>G	gnomAD
ITGAV	P06756	p.Ile463Met	COSM3798424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186649877C>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Leu464Ser	rs1331410690	missense variant	-	NC_000002.12:g.186649879T>C	gnomAD
ITGAV	P06756	p.Tyr465His	rs1348325330	missense variant	-	NC_000002.12:g.186649881T>C	TOPMed
ITGAV	P06756	p.Arg466Lys	rs1239017952	missense variant	-	NC_000002.12:g.186649885G>A	TOPMed,gnomAD
ITGAV	P06756	p.Arg466Met	rs1239017952	missense variant	-	NC_000002.12:g.186649885G>T	TOPMed,gnomAD
ITGAV	P06756	p.Ala467Ser	rs754558098	missense variant	-	NC_000002.12:g.186651983G>T	gnomAD
ITGAV	P06756	p.Pro469Leu	rs781072327	missense variant	-	NC_000002.12:g.186651990C>T	ExAC,gnomAD
ITGAV	P06756	p.Pro469Ser	rs754825254	missense variant	-	NC_000002.12:g.186651989C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro469Gln	rs781072327	missense variant	-	NC_000002.12:g.186651990C>A	ExAC,gnomAD
ITGAV	P06756	p.Ile471Thr	rs201241523	missense variant	-	NC_000002.12:g.186651996T>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile471Asn	rs201241523	missense variant	-	NC_000002.12:g.186651996T>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Thr472Ala	rs1271018610	missense variant	-	NC_000002.12:g.186651998A>G	TOPMed
ITGAV	P06756	p.Asn474Ser	rs755750941	missense variant	-	NC_000002.12:g.186652005A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala475Asp	rs202007073	missense variant	-	NC_000002.12:g.186652008C>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly476Val	rs1183364493	missense variant	-	NC_000002.12:g.186652011G>T	gnomAD
ITGAV	P06756	p.Gly476Ser	rs200310686	missense variant	-	NC_000002.12:g.186652010G>A	ExAC,gnomAD
ITGAV	P06756	p.Leu477His	rs770335482	missense variant	-	NC_000002.12:g.186652014T>A	ExAC,gnomAD
ITGAV	P06756	p.Leu477Arg	rs770335482	missense variant	-	NC_000002.12:g.186652014T>G	ExAC,gnomAD
ITGAV	P06756	p.Glu478Lys	rs776044058	missense variant	-	NC_000002.12:g.186652016G>A	ExAC,gnomAD
ITGAV	P06756	p.Tyr480Ter	rs201680116	stop gained	-	NC_000002.12:g.186652024C>G	ExAC,gnomAD
ITGAV	P06756	p.Tyr480Asp	rs1000699963	missense variant	-	NC_000002.12:g.186652022T>G	TOPMed,gnomAD
ITGAV	P06756	p.Pro481Thr	rs1321447808	missense variant	-	NC_000002.12:g.186652025C>A	TOPMed
ITGAV	P06756	p.Ser482Asn	rs1293714188	missense variant	-	NC_000002.12:g.186652029G>A	gnomAD
ITGAV	P06756	p.Gln486Lys	rs776935186	missense variant	-	NC_000002.12:g.186652040C>A	ExAC,gnomAD
ITGAV	P06756	p.Gln486Glu	rs776935186	missense variant	-	NC_000002.12:g.186652040C>G	ExAC,gnomAD
ITGAV	P06756	p.Asn488Tyr	rs142779223	missense variant	-	NC_000002.12:g.186652046A>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn488Ser	rs200705825	missense variant	-	NC_000002.12:g.186652047A>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn488Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186652047A>C	NCI-TCGA
ITGAV	P06756	p.Lys489Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186652050A>C	NCI-TCGA
ITGAV	P06756	p.Gly495Ala	rs147403786	missense variant	-	NC_000002.12:g.186652068G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Thr496Ala	rs540703885	missense variant	-	NC_000002.12:g.186652070A>G	1000Genomes,TOPMed,gnomAD
ITGAV	P06756	p.Thr496Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186652070A>C	NCI-TCGA
ITGAV	P06756	p.Ala497Gly	rs1466891522	missense variant	-	NC_000002.12:g.186652074C>G	TOPMed
ITGAV	P06756	p.Lys499Arg	rs1403488084	missense variant	-	NC_000002.12:g.186652080A>G	TOPMed
ITGAV	P06756	p.Val500Ile	rs1486595332	missense variant	-	NC_000002.12:g.186652082G>A	gnomAD
ITGAV	P06756	p.Ser501Phe	rs559278598	missense variant	-	NC_000002.12:g.186652086C>T	1000Genomes,gnomAD
ITGAV	P06756	p.Ser501Tyr	COSM71212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186652086C>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Cys502Arg	rs149953343	missense variant	-	NC_000002.12:g.186652088T>C	ESP,ExAC,gnomAD
ITGAV	P06756	p.Asn504Ser	rs376375128	missense variant	-	NC_000002.12:g.186654655A>G	ESP,TOPMed,gnomAD
ITGAV	P06756	p.Val505Ile	rs1310050620	missense variant	-	NC_000002.12:g.186654657G>A	gnomAD
ITGAV	P06756	p.Arg506Trp	rs757888609	missense variant	-	NC_000002.12:g.186654660A>T	ExAC,gnomAD
ITGAV	P06756	p.Phe507Leu	rs1323693796	missense variant	-	NC_000002.12:g.186654663T>C	gnomAD
ITGAV	P06756	p.Phe507Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186654665C>G	NCI-TCGA
ITGAV	P06756	p.Ala511Glu	rs781754934	missense variant	-	NC_000002.12:g.186654676C>A	ExAC,gnomAD
ITGAV	P06756	p.Asp512Gly	rs748532931	missense variant	-	NC_000002.12:g.186654679A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly513Ser	rs202013444	missense variant	-	NC_000002.12:g.186654681G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly515Glu	rs938849170	missense variant	-	NC_000002.12:g.186654688G>A	TOPMed
ITGAV	P06756	p.Val516Ile	rs1025573009	missense variant	-	NC_000002.12:g.186654690G>A	gnomAD
ITGAV	P06756	p.Leu517Ile	rs777951405	missense variant	-	NC_000002.12:g.186654693C>A	ExAC,gnomAD
ITGAV	P06756	p.Arg519Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186654700G>A	NCI-TCGA
ITGAV	P06756	p.Arg519Gly	rs1176054450	missense variant	-	NC_000002.12:g.186654699A>G	gnomAD
ITGAV	P06756	p.Leu521Ile	rs1480812866	missense variant	-	NC_000002.12:g.186654705C>A	gnomAD
ITGAV	P06756	p.Gln524His	rs779369304	missense variant	-	NC_000002.12:g.186656254G>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gln524Arg	rs1300713321	missense variant	-	NC_000002.12:g.186656253A>G	gnomAD
ITGAV	P06756	p.Gln524His	rs779369304	missense variant	-	NC_000002.12:g.186656254G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val525Met	rs368980939	missense variant	-	NC_000002.12:g.186656255G>A	ESP,TOPMed
ITGAV	P06756	p.Lys533Arg	rs1274431991	missense variant	-	NC_000002.12:g.186656280A>G	gnomAD
ITGAV	P06756	p.Gln534Arg	rs373532184	missense variant	-	NC_000002.12:g.186656283A>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly536Arg	rs1225448703	missense variant	-	NC_000002.12:g.186656288G>C	gnomAD
ITGAV	P06756	p.Gly536Val	rs1470507553	missense variant	-	NC_000002.12:g.186656289G>T	gnomAD
ITGAV	P06756	p.Arg539Gln	rs771409986	missense variant	-	NC_000002.12:g.186656298G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg539Ter	COSM173781	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186656297C>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Arg540Gln	rs1244085138	missense variant	-	NC_000002.12:g.186656301G>A	gnomAD
ITGAV	P06756	p.Arg540Ter	rs1375551580	stop gained	-	NC_000002.12:g.186656300C>T	-
ITGAV	P06756	p.Leu542Pro	rs779346870	missense variant	-	NC_000002.12:g.186656307T>C	ExAC,gnomAD
ITGAV	P06756	p.Tyr545Cys	rs1161659017	missense variant	-	NC_000002.12:g.186656316A>G	gnomAD
ITGAV	P06756	p.Arg547Thr	rs1400788388	missense variant	-	NC_000002.12:g.186656322G>C	gnomAD
ITGAV	P06756	p.Arg547Gly	rs772206489	missense variant	-	NC_000002.12:g.186656321A>G	ExAC,gnomAD
ITGAV	P06756	p.Ser548Ala	rs2230615	missense variant	-	NC_000002.12:g.186656324T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro549GlnPheSerTerUnk	COSM1403928	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186656325C>-	NCI-TCGA Cosmic
ITGAV	P06756	p.Ser550Gly	rs200088164	missense variant	-	NC_000002.12:g.186656330A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser550Asn	COSM4089534	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186656331G>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Ser552Phe	rs146565475	missense variant	-	NC_000002.12:g.186656337C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Lys553Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186656341G>T	NCI-TCGA
ITGAV	P06756	p.Asn554Lys	rs1364945613	missense variant	-	NC_000002.12:g.186656344C>A	TOPMed
ITGAV	P06756	p.Met555Val	rs200277128	missense variant	-	NC_000002.12:g.186656345A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met555Leu	rs200277128	missense variant	-	NC_000002.12:g.186656345A>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile557Val	rs201190961	missense variant	-	NC_000002.12:g.186656351A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg559Ser	rs921012957	missense variant	-	NC_000002.12:g.186656359G>T	TOPMed,gnomAD
ITGAV	P06756	p.Arg559Ser	rs921012957	missense variant	-	NC_000002.12:g.186656359G>C	TOPMed,gnomAD
ITGAV	P06756	p.Arg559Met	rs567294324	missense variant	-	NC_000002.12:g.186656358G>T	1000Genomes,ExAC,gnomAD
ITGAV	P06756	p.Gly560Arg	rs199845024	missense variant	-	NC_000002.12:g.186656360G>C	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly560Trp	rs199845024	missense variant	-	NC_000002.12:g.186656360G>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly560Ala	rs899585496	missense variant	-	NC_000002.12:g.186656361G>C	TOPMed
ITGAV	P06756	p.Gly561Val	rs185792013	missense variant	-	NC_000002.12:g.186656364G>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly561AspPheSerTerUnk	COSM1403929	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186656358G>-	NCI-TCGA Cosmic
ITGAV	P06756	p.Leu562ThrPheSerTerUnk	COSM4611090	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186656357_186656358insG	NCI-TCGA Cosmic
ITGAV	P06756	p.Met563Thr	rs754394035	missense variant	-	NC_000002.12:g.186656370T>C	ExAC,gnomAD
ITGAV	P06756	p.Gln564Arg	rs1229972175	missense variant	-	NC_000002.12:g.186656373A>G	TOPMed
ITGAV	P06756	p.Cys565Gly	rs757702935	missense variant	-	NC_000002.12:g.186656375T>G	ExAC,gnomAD
ITGAV	P06756	p.Leu568Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186656386G>T	NCI-TCGA
ITGAV	P06756	p.Ala570Thr	rs201670713	missense variant	-	NC_000002.12:g.186656390G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala570Val	rs199670325	missense variant	-	NC_000002.12:g.186656391C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Tyr571Asp	rs201927835	missense variant	-	NC_000002.12:g.186656393T>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Tyr571Asn	rs201927835	missense variant	-	NC_000002.12:g.186656393T>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg573Pro	rs768771232	missense variant	-	NC_000002.12:g.186656400G>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg573Gln	rs768771232	missense variant	-	NC_000002.12:g.186656400G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg573Trp	rs571276917	missense variant	-	NC_000002.12:g.186656399C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asp574Asn	rs1255182395	missense variant	-	NC_000002.12:g.186659038G>A	TOPMed,gnomAD
ITGAV	P06756	p.Ser576Phe	rs770754894	missense variant	-	NC_000002.12:g.186659045C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Glu577Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186659047G>A	NCI-TCGA
ITGAV	P06756	p.Arg579Ile	rs1272423943	missense variant	-	NC_000002.12:g.186659054G>T	gnomAD
ITGAV	P06756	p.Leu582Val	rs1482412027	missense variant	-	NC_000002.12:g.186659062C>G	TOPMed,gnomAD
ITGAV	P06756	p.Pro584Ser	rs1199478317	missense variant	-	NC_000002.12:g.186659068C>T	gnomAD
ITGAV	P06756	p.Thr586Ser	rs1431094536	missense variant	-	NC_000002.12:g.186659075C>G	TOPMed,gnomAD
ITGAV	P06756	p.Thr586Ala	rs1270457792	missense variant	-	NC_000002.12:g.186659074A>G	gnomAD
ITGAV	P06756	p.Ile587Leu	rs773881024	missense variant	-	NC_000002.12:g.186659077A>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile587Val	rs773881024	missense variant	-	NC_000002.12:g.186659077A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met589Val	rs759172269	missense variant	-	NC_000002.12:g.186659083A>G	ExAC,gnomAD
ITGAV	P06756	p.Arg592Trp	rs200949549	missense variant	-	NC_000002.12:g.186659092C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg592Gln	rs201898547	missense variant	-	NC_000002.12:g.186659093G>A	ExAC,gnomAD
ITGAV	P06756	p.Arg592Pro	rs201898547	missense variant	-	NC_000002.12:g.186659093G>C	ExAC,gnomAD
ITGAV	P06756	p.Asp594Gly	rs200210960	missense variant	-	NC_000002.12:g.186659099A>G	ExAC,gnomAD
ITGAV	P06756	p.Arg596Ser	rs372257946	missense variant	-	NC_000002.12:g.186659106A>T	ESP
ITGAV	P06756	p.Asp600Gly	rs750931686	missense variant	-	NC_000002.12:g.186659117A>G	ExAC
ITGAV	P06756	p.Thr601Arg	rs1363988503	missense variant	-	NC_000002.12:g.186659120C>G	gnomAD
ITGAV	P06756	p.Thr602Arg	rs375197365	missense variant	-	NC_000002.12:g.186659123C>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Thr602Ile	rs375197365	missense variant	-	NC_000002.12:g.186659123C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly603Val	rs766704641	missense variant	-	NC_000002.12:g.186659126G>T	ExAC,gnomAD
ITGAV	P06756	p.Gln605Pro	rs1229363279	missense variant	-	NC_000002.12:g.186659132A>C	TOPMed,gnomAD
ITGAV	P06756	p.Pro606Ser	rs367819287	missense variant	-	NC_000002.12:g.186659134C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu608Val	rs781357387	missense variant	-	NC_000002.12:g.186659140C>G	ExAC,gnomAD
ITGAV	P06756	p.Gln610Arg	rs1293307542	missense variant	-	NC_000002.12:g.186659147A>G	gnomAD
ITGAV	P06756	p.Phe611Leu	rs200254694	missense variant	-	NC_000002.12:g.186659149T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Phe611Leu	rs199728735	missense variant	-	NC_000002.12:g.186659151C>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Thr612Met	rs150474737	missense variant	-	NC_000002.12:g.186659153C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile616Ser	rs1269202960	missense variant	-	NC_000002.12:g.186659165T>G	TOPMed
ITGAV	P06756	p.Ile616Val	rs1190884773	missense variant	-	NC_000002.12:g.186659164A>G	gnomAD
ITGAV	P06756	p.Ser617Gly	rs1201170163	missense variant	-	NC_000002.12:g.186659167A>G	TOPMed
ITGAV	P06756	p.Arg618Gln	rs745538827	missense variant	-	NC_000002.12:g.186659171G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg618Ter	rs778721113	stop gained	-	NC_000002.12:g.186659170C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala620Val	rs536289285	missense variant	-	NC_000002.12:g.186663769C>T	1000Genomes,ExAC
ITGAV	P06756	p.His621Tyr	rs1420181798	missense variant	-	NC_000002.12:g.186663771C>T	TOPMed
ITGAV	P06756	p.Glu628Lys	rs554519341	missense variant	-	NC_000002.12:g.186663792G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asp629Gly	rs768300887	missense variant	-	NC_000002.12:g.186663796A>G	ExAC,gnomAD
ITGAV	P06756	p.Val631Ile	rs1318209739	missense variant	-	NC_000002.12:g.186663801G>A	gnomAD
ITGAV	P06756	p.Cys632Tyr	rs776165007	missense variant	-	NC_000002.12:g.186663805G>A	ExAC,gnomAD
ITGAV	P06756	p.Cys632Ser	rs776165007	missense variant	-	NC_000002.12:g.186663805G>C	ExAC,gnomAD
ITGAV	P06756	p.Glu637Ala	rs562639972	missense variant	-	NC_000002.12:g.186663820A>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val638Phe	rs1482559084	missense variant	-	NC_000002.12:g.186663822G>T	TOPMed,gnomAD
ITGAV	P06756	p.Val638Leu	rs1482559084	missense variant	-	NC_000002.12:g.186663822G>C	TOPMed,gnomAD
ITGAV	P06756	p.Val638Ile	rs1482559084	missense variant	-	NC_000002.12:g.186663822G>A	TOPMed,gnomAD
ITGAV	P06756	p.Ser639Pro	rs1181844714	missense variant	-	NC_000002.12:g.186663825T>C	gnomAD
ITGAV	P06756	p.Ser639Tyr	rs774705904	missense variant	-	NC_000002.12:g.186663826C>A	ExAC,gnomAD
ITGAV	P06756	p.Asp641His	rs199902091	missense variant	-	NC_000002.12:g.186663831G>C	TOPMed,gnomAD
ITGAV	P06756	p.Ser642Asn	rs1475952532	missense variant	-	NC_000002.12:g.186663835G>A	gnomAD
ITGAV	P06756	p.Gln644Arg	rs749252737	missense variant	-	NC_000002.12:g.186664499A>G	TOPMed
ITGAV	P06756	p.Gln644Pro	rs749252737	missense variant	-	NC_000002.12:g.186664499A>C	TOPMed
ITGAV	P06756	p.Lys645Arg	rs955173282	missense variant	-	NC_000002.12:g.186664502A>G	TOPMed,gnomAD
ITGAV	P06756	p.Tyr648Cys	rs201180647	missense variant	-	NC_000002.12:g.186664511A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile649Val	rs774924092	missense variant	-	NC_000002.12:g.186664513A>G	ExAC,gnomAD
ITGAV	P06756	p.Ile649Thr	rs200809220	missense variant	-	NC_000002.12:g.186664514T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly650Ala	rs772450071	missense variant	-	NC_000002.12:g.186664517G>C	ExAC,gnomAD
ITGAV	P06756	p.Asp651Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186664519G>A	NCI-TCGA
ITGAV	P06756	p.Asp652Gly	rs376843234	missense variant	-	NC_000002.12:g.186664523A>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn653Lys	rs1223998082	missense variant	-	NC_000002.12:g.186664527C>A	gnomAD
ITGAV	P06756	p.Asn653Ser	rs1490538676	missense variant	-	NC_000002.12:g.186664526A>G	gnomAD
ITGAV	P06756	p.Pro654Leu	rs1282269270	missense variant	-	NC_000002.12:g.186664529C>T	gnomAD
ITGAV	P06756	p.Val659Leu	rs1233864057	missense variant	-	NC_000002.12:g.186664543G>C	gnomAD
ITGAV	P06756	p.Lys660Asn	rs1192949429	missense variant	-	NC_000002.12:g.186664548G>T	TOPMed
ITGAV	P06756	p.Lys660Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186664547A>T	NCI-TCGA
ITGAV	P06756	p.Ala661Val	rs1479707835	missense variant	-	NC_000002.12:g.186664550C>T	TOPMed
ITGAV	P06756	p.Gln662Glu	rs762023736	missense variant	-	NC_000002.12:g.186664552C>G	ExAC,gnomAD
ITGAV	P06756	p.Gln664Ter	COSM1013845	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.186664558C>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Gln664Glu	COSM461227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186664558C>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Gly665Val	rs754859050	missense variant	-	NC_000002.12:g.186664562G>T	ExAC,gnomAD
ITGAV	P06756	p.Gly665Glu	rs754859050	missense variant	-	NC_000002.12:g.186664562G>A	ExAC,gnomAD
ITGAV	P06756	p.Glu666Ter	rs1205917860	stop gained	-	NC_000002.12:g.186664564G>T	TOPMed
ITGAV	P06756	p.Gly667Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186664568G>T	NCI-TCGA
ITGAV	P06756	p.Leu673Phe	rs1406636242	missense variant	-	NC_000002.12:g.186664585C>T	gnomAD
ITGAV	P06756	p.Ile674Thr	rs758367657	missense variant	-	NC_000002.12:g.186664589T>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile674Val	rs138771382	missense variant	-	NC_000002.12:g.186664588A>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val675Ile	rs751446512	missense variant	-	NC_000002.12:g.186664591G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser676Tyr	rs1321639888	missense variant	-	NC_000002.12:g.186664595C>A	gnomAD
ITGAV	P06756	p.Leu679Gln	rs1367869430	missense variant	-	NC_000002.12:g.186664604T>A	gnomAD
ITGAV	P06756	p.Gln680Ter	rs754712481	stop gained	-	NC_000002.12:g.186664606C>T	ExAC
ITGAV	P06756	p.Asp682Asn	COSM718921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186664612G>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Ile684Val	rs1297549266	missense variant	-	NC_000002.12:g.186664618A>G	gnomAD
ITGAV	P06756	p.Gly685Arg	rs200130364	missense variant	-	NC_000002.12:g.186664621G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly685Glu	rs1370610614	missense variant	-	NC_000002.12:g.186664622G>A	TOPMed
ITGAV	P06756	p.Val686Ile	rs777215187	missense variant	-	NC_000002.12:g.186664624G>A	ExAC,gnomAD
ITGAV	P06756	p.Val686Phe	rs777215187	missense variant	-	NC_000002.12:g.186664624G>T	ExAC,gnomAD
ITGAV	P06756	p.Val687Ile	rs1055157911	missense variant	-	NC_000002.12:g.186664627G>A	TOPMed,gnomAD
ITGAV	P06756	p.Arg688Ter	rs1249598046	stop gained	-	NC_000002.12:g.186664630C>T	TOPMed,gnomAD
ITGAV	P06756	p.Arg688Gly	rs1249598046	missense variant	-	NC_000002.12:g.186664630C>G	TOPMed,gnomAD
ITGAV	P06756	p.Arg688Gln	rs1463379182	missense variant	-	NC_000002.12:g.186664631G>A	gnomAD
ITGAV	P06756	p.Ala692Pro	rs201558849	missense variant	-	NC_000002.12:g.186665126G>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu693Val	rs200058229	missense variant	-	NC_000002.12:g.186665129T>G	1000Genomes
ITGAV	P06756	p.Leu693Phe	rs773551571	missense variant	-	NC_000002.12:g.186665131A>T	ExAC,gnomAD
ITGAV	P06756	p.Ala694Ser	rs1348828052	missense variant	-	NC_000002.12:g.186665132G>T	gnomAD
ITGAV	P06756	p.Ala694Thr	rs1348828052	missense variant	-	NC_000002.12:g.186665132G>A	gnomAD
ITGAV	P06756	p.Leu696His	rs763189219	missense variant	-	NC_000002.12:g.186665139T>A	ExAC,gnomAD
ITGAV	P06756	p.Ser697Thr	rs771066333	missense variant	-	NC_000002.12:g.186665141T>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser697Pro	rs771066333	missense variant	-	NC_000002.12:g.186665141T>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Cys698Gly	rs375011099	missense variant	-	NC_000002.12:g.186665144T>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Cys698Arg	rs375011099	missense variant	-	NC_000002.12:g.186665144T>C	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala699Ser	rs1483368460	missense variant	-	NC_000002.12:g.186665147G>T	TOPMed,gnomAD
ITGAV	P06756	p.Ala699Val	rs377468577	missense variant	-	NC_000002.12:g.186665148C>T	ESP
ITGAV	P06756	p.Lys701Arg	rs1249069074	missense variant	-	NC_000002.12:g.186665154A>G	gnomAD
ITGAV	P06756	p.Glu703Lys	rs1472052772	missense variant	-	NC_000002.12:g.186665159G>A	gnomAD
ITGAV	P06756	p.Asn704Asp	rs760496817	missense variant	-	NC_000002.12:g.186665162A>G	ExAC,gnomAD
ITGAV	P06756	p.Arg707Cys	rs756766692	missense variant	-	NC_000002.12:g.186665171C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg707His	rs554897868	missense variant	-	NC_000002.12:g.186665172G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gln708Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186665175A>C	NCI-TCGA
ITGAV	P06756	p.Gln708His	COSM6089868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186665176G>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Val710Ile	rs752134103	missense variant	-	NC_000002.12:g.186665180G>A	ExAC,gnomAD
ITGAV	P06756	p.Val710Ala	rs755474415	missense variant	-	NC_000002.12:g.186665181T>C	ExAC,gnomAD
ITGAV	P06756	p.Cys711Arg	rs781705816	missense variant	-	NC_000002.12:g.186665183T>C	ExAC
ITGAV	P06756	p.Leu713Phe	rs770275333	missense variant	-	NC_000002.12:g.186665189C>T	ExAC,gnomAD
ITGAV	P06756	p.Asn715Tyr	rs1484564170	missense variant	-	NC_000002.12:g.186665195A>T	TOPMed
ITGAV	P06756	p.Met717Thr	rs749462084	missense variant	-	NC_000002.12:g.186665202T>C	ExAC,gnomAD
ITGAV	P06756	p.Met717Val	rs199555610	missense variant	-	NC_000002.12:g.186665201A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Lys718Arg	COSM6156350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186665205A>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Ala719Ser	rs771156414	missense variant	-	NC_000002.12:g.186665207G>T	ExAC,gnomAD
ITGAV	P06756	p.Ala719Thr	COSM1013847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186665207G>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Leu723Pro	rs1275427405	missense variant	-	NC_000002.12:g.186666705T>C	TOPMed
ITGAV	P06756	p.Leu723Phe	rs202242205	missense variant	-	NC_000002.12:g.186666704C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu723Val	rs202242205	missense variant	-	NC_000002.12:g.186666704C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu724Ser	rs779174100	missense variant	-	NC_000002.12:g.186666708T>C	ExAC,gnomAD
ITGAV	P06756	p.Gly726Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186666714G>C	NCI-TCGA
ITGAV	P06756	p.Arg728Cys	rs745994002	missense variant	-	NC_000002.12:g.186666719C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg728His	rs554793668	missense variant	-	NC_000002.12:g.186666720G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg728Gly	rs745994002	missense variant	-	NC_000002.12:g.186666719C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Phe729Tyr	rs1363916438	missense variant	-	NC_000002.12:g.186666723T>A	gnomAD
ITGAV	P06756	p.His732Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186666731C>T	NCI-TCGA
ITGAV	P06756	p.His732Arg	rs746894846	missense variant	-	NC_000002.12:g.186666732A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gln734Pro	rs1173958134	missense variant	-	NC_000002.12:g.186666738A>C	TOPMed
ITGAV	P06756	p.Gln734Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.186666737C>T	NCI-TCGA
ITGAV	P06756	p.Met737Thr	rs768465954	missense variant	-	NC_000002.12:g.186666747T>C	ExAC,gnomAD
ITGAV	P06756	p.Asp738Val	rs201172979	missense variant	-	NC_000002.12:g.186666750A>T	ExAC,gnomAD
ITGAV	P06756	p.Asp738Ala	rs201172979	missense variant	-	NC_000002.12:g.186666750A>C	ExAC,gnomAD
ITGAV	P06756	p.Val741Met	rs1017536084	missense variant	-	NC_000002.12:g.186666758G>A	TOPMed
ITGAV	P06756	p.Phe743Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186666764T>A	NCI-TCGA
ITGAV	P06756	p.Asp744His	rs772910198	missense variant	-	NC_000002.12:g.186666767G>C	ExAC,gnomAD
ITGAV	P06756	p.Gln748His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186666781A>C	NCI-TCGA
ITGAV	P06756	p.Gln748CysLeuAsnLysLysTerCysSer	NCI-TCGA novel	stop gained	-	NC_000002.12:g.186666781_186666782insTGTCTAAATAAAAAATAATGTTCT	NCI-TCGA
ITGAV	P06756	p.Ser749Arg	rs201510096	missense variant	-	NC_000002.12:g.186667150C>G	TOPMed
ITGAV	P06756	p.Ser749Ile	COSM1013849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186666783G>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Ser750Leu	rs1316696955	missense variant	-	NC_000002.12:g.186667152C>T	gnomAD
ITGAV	P06756	p.Asn751Asp	rs1447097348	missense variant	-	NC_000002.12:g.186667154A>G	TOPMed
ITGAV	P06756	p.Asn751Ile	rs772750590	missense variant	-	NC_000002.12:g.186667155A>T	ExAC,gnomAD
ITGAV	P06756	p.Phe753Cys	rs1193307801	missense variant	-	NC_000002.12:g.186667161T>G	TOPMed
ITGAV	P06756	p.Asp754Asn	rs770376700	missense variant	-	NC_000002.12:g.186667163G>A	ExAC,gnomAD
ITGAV	P06756	p.Lys755Gln	rs1252717770	missense variant	-	NC_000002.12:g.186667166A>C	gnomAD
ITGAV	P06756	p.Val756Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186667169G>A	NCI-TCGA
ITGAV	P06756	p.Ser757Ile	rs1473688545	missense variant	-	NC_000002.12:g.186667173G>T	gnomAD
ITGAV	P06756	p.Ser757Arg	rs759093846	missense variant	-	NC_000002.12:g.186667174C>G	ExAC,gnomAD
ITGAV	P06756	p.Pro758Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186667176C>A	NCI-TCGA
ITGAV	P06756	p.Ser761Phe	rs150579951	missense variant	-	NC_000002.12:g.186667185C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser761Ala	rs1265200126	missense variant	-	NC_000002.12:g.186667184T>G	TOPMed
ITGAV	P06756	p.Ser761Pro	COSM3838113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186667184T>C	NCI-TCGA Cosmic
ITGAV	P06756	p.Val772Ala	rs1490471939	missense variant	-	NC_000002.12:g.186667218T>C	TOPMed
ITGAV	P06756	p.Glu773Gly	rs1294185761	missense variant	-	NC_000002.12:g.186667221A>G	TOPMed
ITGAV	P06756	p.Glu773Asp	rs1357340344	missense variant	-	NC_000002.12:g.186667222G>C	TOPMed,gnomAD
ITGAV	P06756	p.Ile774Met	rs1434073574	missense variant	-	NC_000002.12:g.186667225A>G	gnomAD
ITGAV	P06756	p.Gly776Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.186667229G>T	NCI-TCGA
ITGAV	P06756	p.Ser778Leu	rs748019105	missense variant	-	NC_000002.12:g.186667676C>T	ExAC,gnomAD
ITGAV	P06756	p.Ser778Trp	COSM718920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186667676C>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Ser779Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186667679G>A	NCI-TCGA
ITGAV	P06756	p.Pro780Ser	rs200169203	missense variant	-	NC_000002.12:g.186667681C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro780Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186667681C>A	NCI-TCGA
ITGAV	P06756	p.His782Asp	rs1327658996	missense variant	-	NC_000002.12:g.186667687C>G	gnomAD
ITGAV	P06756	p.His782Arg	rs199914502	missense variant	-	NC_000002.12:g.186667688A>G	1000Genomes,ExAC,gnomAD
ITGAV	P06756	p.His782Leu	rs199914502	missense variant	-	NC_000002.12:g.186667688A>T	1000Genomes,ExAC,gnomAD
ITGAV	P06756	p.Val783Ile	rs2230616	missense variant	-	NC_000002.12:g.186667690G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val783Leu	rs2230616	missense variant	-	NC_000002.12:g.186667690G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val783Ala	rs200258394	missense variant	-	NC_000002.12:g.186667691T>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro786Leu	rs771642877	missense variant	-	NC_000002.12:g.186667700C>T	ExAC,gnomAD
ITGAV	P06756	p.Asn789Lys	rs765554402	missense variant	-	NC_000002.12:g.186667710C>G	ExAC,gnomAD
ITGAV	P06756	p.Trp790Gly	rs750843960	missense variant	-	NC_000002.12:g.186667711T>G	ExAC,gnomAD
ITGAV	P06756	p.Trp790Ter	rs1212862675	stop gained	-	NC_000002.12:g.186667713G>A	gnomAD
ITGAV	P06756	p.Glu791SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.186667712G>-	NCI-TCGA
ITGAV	P06756	p.His792Arg	rs201916887	missense variant	-	NC_000002.12:g.186667718A>G	ExAC,gnomAD
ITGAV	P06756	p.Asn795Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186667727A>G	NCI-TCGA
ITGAV	P06756	p.Pro796Thr	rs201122594	missense variant	-	NC_000002.12:g.186667729C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Glu797Ala	rs1271927972	missense variant	-	NC_000002.12:g.186667733A>C	TOPMed
ITGAV	P06756	p.Glu799Lys	rs202170056	missense variant	-	NC_000002.12:g.186667738G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asp801Val	rs1303556921	missense variant	-	NC_000002.12:g.186667745A>T	TOPMed
ITGAV	P06756	p.Val802Ile	rs193173970	missense variant	-	NC_000002.12:g.186667747G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly803Arg	rs752660168	missense variant	-	NC_000002.12:g.186667750G>A	ExAC,gnomAD
ITGAV	P06756	p.Pro804Ser	rs1413961156	missense variant	-	NC_000002.12:g.186667753C>T	gnomAD
ITGAV	P06756	p.Val805Ala	rs1169754028	missense variant	-	NC_000002.12:g.186667757T>C	TOPMed
ITGAV	P06756	p.Val806HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.186667758_186667759insCATTTTCAAAA	NCI-TCGA
ITGAV	P06756	p.Gln807Glu	rs756115884	missense variant	-	NC_000002.12:g.186667762C>G	ExAC,gnomAD
ITGAV	P06756	p.His808Tyr	rs749164618	missense variant	-	NC_000002.12:g.186667765C>T	ExAC,gnomAD
ITGAV	P06756	p.Tyr810Cys	rs756998836	missense variant	-	NC_000002.12:g.186667772A>G	ExAC,gnomAD
ITGAV	P06756	p.Asn815Asp	rs757090327	missense variant	-	NC_000002.12:g.186668771A>G	ExAC,gnomAD
ITGAV	P06756	p.Asn815Ser	rs61757099	missense variant	-	NC_000002.12:g.186668772A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro817Leu	rs1254384655	missense variant	-	NC_000002.12:g.186668778C>T	gnomAD
ITGAV	P06756	p.Ser818Asn	rs1331334038	missense variant	-	NC_000002.12:g.186668781G>A	TOPMed
ITGAV	P06756	p.Lys822Glu	rs758167269	missense variant	-	NC_000002.12:g.186668792A>G	ExAC,gnomAD
ITGAV	P06756	p.Met824Val	rs1444116250	missense variant	-	NC_000002.12:g.186668798A>G	gnomAD
ITGAV	P06756	p.Leu825His	rs1389238063	missense variant	-	NC_000002.12:g.186668802T>A	TOPMed
ITGAV	P06756	p.Gln828Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186668811A>T	NCI-TCGA
ITGAV	P06756	p.Trp829Ter	rs1208064029	stop gained	-	NC_000002.12:g.186668815G>A	gnomAD
ITGAV	P06756	p.Pro830Arg	rs767980859	missense variant	-	NC_000002.12:g.186668817C>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Lys832Asn	rs749706881	missense variant	-	NC_000002.12:g.186668824A>C	ExAC,gnomAD
ITGAV	P06756	p.Lys832Thr	rs1183900980	missense variant	-	NC_000002.12:g.186668823A>C	gnomAD
ITGAV	P06756	p.Tyr833Cys	rs199789114	missense variant	-	NC_000002.12:g.186668826A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn835His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186668831A>C	NCI-TCGA
ITGAV	P06756	p.Asn836Asp	rs199591827	missense variant	-	NC_000002.12:g.186668834A>G	ExAC,gnomAD
ITGAV	P06756	p.Thr837Ser	rs1038572515	missense variant	-	NC_000002.12:g.186668838C>G	gnomAD
ITGAV	P06756	p.Tyr840His	COSM4089538	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186668846T>C	NCI-TCGA Cosmic
ITGAV	P06756	p.Ile841Val	rs767784678	missense variant	-	NC_000002.12:g.186668849A>G	ExAC,gnomAD
ITGAV	P06756	p.Ile841Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186668851C>G	NCI-TCGA
ITGAV	P06756	p.Leu842Val	rs1410597513	missense variant	-	NC_000002.12:g.186668852C>G	gnomAD
ITGAV	P06756	p.Leu842Phe	COSM3575194	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186668852C>T	NCI-TCGA Cosmic
ITGAV	P06756	p.Tyr844Cys	rs142978189	missense variant	-	NC_000002.12:g.186668859A>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly848Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.186668870G>T	NCI-TCGA
ITGAV	P06756	p.Asp855Tyr	rs1333718165	missense variant	-	NC_000002.12:g.186668891G>T	gnomAD
ITGAV	P06756	p.Asp855Val	rs372469580	missense variant	-	NC_000002.12:g.186668892A>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met856Thr	rs377142689	missense variant	-	NC_000002.12:g.186668895T>C	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met856Val	rs779007178	missense variant	-	NC_000002.12:g.186668894A>G	TOPMed,gnomAD
ITGAV	P06756	p.Glu857Lys	rs1439203520	missense variant	-	NC_000002.12:g.186668897G>A	TOPMed
ITGAV	P06756	p.Ile858Met	rs948771263	missense variant	-	NC_000002.12:g.186668902C>G	TOPMed
ITGAV	P06756	p.Ile858Phe	rs761804059	missense variant	-	NC_000002.12:g.186668900A>T	ExAC,gnomAD
ITGAV	P06756	p.Pro860Ser	rs1483113329	missense variant	-	NC_000002.12:g.186668906C>T	TOPMed,gnomAD
ITGAV	P06756	p.Pro860Ala	rs1483113329	missense variant	-	NC_000002.12:g.186668906C>G	TOPMed,gnomAD
ITGAV	P06756	p.Asp875Asn	rs1461622790	missense variant	-	NC_000002.12:g.186669731G>A	gnomAD
ITGAV	P06756	p.Thr876Met	rs368269954	missense variant	-	NC_000002.12:g.186669735C>T	ESP,ExAC,gnomAD
ITGAV	P06756	p.Ala878Val	rs765327233	missense variant	-	NC_000002.12:g.186669741C>T	ExAC,gnomAD
ITGAV	P06756	p.Ala878Ser	rs1459652768	missense variant	-	NC_000002.12:g.186669740G>T	gnomAD
ITGAV	P06756	p.Gly879Arg	rs762903598	missense variant	-	NC_000002.12:g.186669743G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gln880Arg	rs1292745143	missense variant	-	NC_000002.12:g.186669747A>G	gnomAD
ITGAV	P06756	p.Gly881Ser	rs766069647	missense variant	-	NC_000002.12:g.186669749G>A	ExAC,gnomAD
ITGAV	P06756	p.Arg883Gln	rs754620384	missense variant	-	NC_000002.12:g.186669756G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg883Trp	rs751267868	missense variant	-	NC_000002.12:g.186669755C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asp884Tyr	rs752218570	missense variant	-	NC_000002.12:g.186669758G>T	ExAC,gnomAD
ITGAV	P06756	p.His885Arg	rs1273026200	missense variant	-	NC_000002.12:g.186669762A>G	gnomAD
ITGAV	P06756	p.Ile887Val	rs1259668886	missense variant	-	NC_000002.12:g.186669767A>G	gnomAD
ITGAV	P06756	p.Lys889Glu	rs1428014440	missense variant	-	NC_000002.12:g.186669773A>G	gnomAD
ITGAV	P06756	p.Arg890Gln	rs181427404	missense variant	-	NC_000002.12:g.186669777G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg890Trp	rs199887925	missense variant	-	NC_000002.12:g.186669776C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala893Thr	rs1157520073	missense variant	-	NC_000002.12:g.186669785G>A	TOPMed
ITGAV	P06756	p.Leu894Phe	rs780249006	missense variant	-	NC_000002.12:g.186669788C>T	ExAC,gnomAD
ITGAV	P06756	p.Ser895Gly	rs201781970	missense variant	-	NC_000002.12:g.186669791A>G	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser895Thr	rs1455222945	missense variant	-	NC_000002.12:g.186669792G>C	gnomAD
ITGAV	P06756	p.Glu896Gly	rs1287077492	missense variant	-	NC_000002.12:g.186669795A>G	gnomAD
ITGAV	P06756	p.Gly897Arg	rs1232040198	missense variant	-	NC_000002.12:g.186669797G>A	gnomAD
ITGAV	P06756	p.Ile899Thr	rs768780155	missense variant	-	NC_000002.12:g.186669804T>C	ExAC,gnomAD
ITGAV	P06756	p.Leu902Ser	rs1274455058	missense variant	-	NC_000002.12:g.186669813T>C	gnomAD
ITGAV	P06756	p.Gly905Glu	rs780558422	missense variant	-	NC_000002.12:g.186675611G>A	ExAC,gnomAD
ITGAV	P06756	p.Val906Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186675614T>C	NCI-TCGA
ITGAV	P06756	p.Ala907Val	rs1413719882	missense variant	-	NC_000002.12:g.186675617C>T	TOPMed,gnomAD
ITGAV	P06756	p.Leu910Trp	COSM441960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186675626T>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Ile912Thr	rs112911535	missense variant	-	NC_000002.12:g.186675632T>C	gnomAD
ITGAV	P06756	p.Ile912Met	rs138043193	missense variant	-	NC_000002.12:g.186675633T>G	ESP,ExAC,gnomAD
ITGAV	P06756	p.Ile912Leu	rs1375133263	missense variant	-	NC_000002.12:g.186675631A>C	gnomAD
ITGAV	P06756	p.Ile912Ser	rs112911535	missense variant	-	NC_000002.12:g.186675632T>G	gnomAD
ITGAV	P06756	p.Cys914TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.186675639_186675654CCAAGTTGGGAGATTA>-	NCI-TCGA
ITGAV	P06756	p.Gln915Ter	rs1316827234	stop gained	-	NC_000002.12:g.186675640C>T	gnomAD
ITGAV	P06756	p.Gly917Glu	rs201617888	missense variant	-	NC_000002.12:g.186675647G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg918Thr	rs770037400	missense variant	-	NC_000002.12:g.186675650G>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg918Lys	rs770037400	missense variant	-	NC_000002.12:g.186675650G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu919Ser	rs773459483	missense variant	-	NC_000002.12:g.186675653T>C	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu919Ter	rs773459483	stop gained	-	NC_000002.12:g.186675653T>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly922Arg	rs199560379	missense variant	-	NC_000002.12:g.186675661G>A	gnomAD
ITGAV	P06756	p.Ser924Asn	rs56316527	missense variant	-	NC_000002.12:g.186675668G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser924Ile	rs56316527	missense variant	-	NC_000002.12:g.186675668G>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ala925Pro	rs1183190099	missense variant	-	NC_000002.12:g.186675670G>C	TOPMed
ITGAV	P06756	p.Ala925Val	rs767330119	missense variant	-	NC_000002.12:g.186675671C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Tyr928Ter	rs199793723	stop gained	-	NC_000002.12:g.186675681C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Tyr928Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.186675681C>G	NCI-TCGA
ITGAV	P06756	p.Val929Ile	rs146319338	missense variant	-	NC_000002.12:g.186675682G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val929Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.186675682G>-	NCI-TCGA
ITGAV	P06756	p.Lys930Asn	rs370683564	missense variant	-	NC_000002.12:g.186675687G>C	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu932Ile	rs1261785081	missense variant	-	NC_000002.12:g.186675691T>A	TOPMed
ITGAV	P06756	p.Trp934Cys	rs139359558	missense variant	-	NC_000002.12:g.186675699G>C	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Trp934Cys	rs139359558	missense variant	-	NC_000002.12:g.186675699G>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Thr935Ala	rs755351300	missense variant	-	NC_000002.12:g.186675700A>G	ExAC,gnomAD
ITGAV	P06756	p.Phe938Leu	rs1442229065	missense variant	-	NC_000002.12:g.186675711T>A	gnomAD
ITGAV	P06756	p.Phe938Ser	rs748488089	missense variant	-	NC_000002.12:g.186675710T>C	ExAC,gnomAD
ITGAV	P06756	p.Met939Leu	rs1289783338	missense variant	-	NC_000002.12:g.186675712A>T	gnomAD
ITGAV	P06756	p.Met939Ile	rs761261370	missense variant	-	NC_000002.12:g.186675714G>A	-
ITGAV	P06756	p.Asn940Lys	rs145339092	missense variant	-	NC_000002.12:g.186675717T>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Glu942Lys	rs757331033	missense variant	-	NC_000002.12:g.186675823G>A	ExAC,gnomAD
ITGAV	P06756	p.Glu942Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.186675823G>T	NCI-TCGA
ITGAV	P06756	p.Asn943Tyr	rs376024712	missense variant	-	NC_000002.12:g.186675826A>T	ESP,ExAC,gnomAD
ITGAV	P06756	p.Asn943Ile	rs1414031189	missense variant	-	NC_000002.12:g.186675827A>T	gnomAD
ITGAV	P06756	p.Gln944Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.186675829C>T	NCI-TCGA
ITGAV	P06756	p.Gln944Arg	rs1362076649	missense variant	-	NC_000002.12:g.186675830A>G	TOPMed
ITGAV	P06756	p.Asn945Ser	rs200733186	missense variant	-	NC_000002.12:g.186675833A>G	1000Genomes
ITGAV	P06756	p.His946Leu	rs779907933	missense variant	-	NC_000002.12:g.186675836A>T	ExAC,gnomAD
ITGAV	P06756	p.His946Asp	rs772017465	missense variant	-	NC_000002.12:g.186675835C>G	ExAC,gnomAD
ITGAV	P06756	p.Ser947Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186675839C>T	NCI-TCGA
ITGAV	P06756	p.Ser947Thr	rs199524190	missense variant	-	NC_000002.12:g.186675838T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Tyr948Phe	rs768433078	missense variant	-	NC_000002.12:g.186675842A>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Tyr948Cys	rs768433078	missense variant	-	NC_000002.12:g.186675842A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser949Tyr	COSM173093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186675845C>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Ser952Leu	rs761500456	missense variant	-	NC_000002.12:g.186675854C>T	ExAC,gnomAD
ITGAV	P06756	p.Ser953Pro	rs1269740789	missense variant	-	NC_000002.12:g.186675856T>C	TOPMed,gnomAD
ITGAV	P06756	p.Ala954Thr	rs1043420606	missense variant	-	NC_000002.12:g.186675859G>A	gnomAD
ITGAV	P06756	p.Ser955Ala	rs762316250	missense variant	-	NC_000002.12:g.186675862T>G	ExAC,gnomAD
ITGAV	P06756	p.Asn957Ser	rs768145251	missense variant	-	NC_000002.12:g.186675869A>G	ExAC,gnomAD
ITGAV	P06756	p.Ile959Met	rs753253288	missense variant	-	NC_000002.12:g.186675876A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile959Val	rs1363578425	missense variant	-	NC_000002.12:g.186675874A>G	TOPMed
ITGAV	P06756	p.Glu960Lys	rs376903363	missense variant	-	NC_000002.12:g.186675877G>A	ESP,ExAC
ITGAV	P06756	p.Pro962Leu	rs1214455022	missense variant	-	NC_000002.12:g.186675884C>T	gnomAD
ITGAV	P06756	p.Pro962Ser	rs1445250226	missense variant	-	NC_000002.12:g.186675883C>T	gnomAD
ITGAV	P06756	p.Tyr963Cys	rs1021648258	missense variant	-	NC_000002.12:g.186675887A>G	TOPMed,gnomAD
ITGAV	P06756	p.Ile968Thr	rs778951731	missense variant	-	NC_000002.12:g.186675902T>C	ExAC,gnomAD
ITGAV	P06756	p.Ile968Val	rs757530253	missense variant	-	NC_000002.12:g.186675901A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Glu969Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186675905A>T	NCI-TCGA
ITGAV	P06756	p.Asp970Glu	rs567843082	missense variant	-	NC_000002.12:g.186675909T>G	1000Genomes,ExAC,gnomAD
ITGAV	P06756	p.Asp970His	rs1056681222	missense variant	-	NC_000002.12:g.186675907G>C	gnomAD
ITGAV	P06756	p.Asp970Tyr	rs1056681222	missense variant	-	NC_000002.12:g.186675907G>T	gnomAD
ITGAV	P06756	p.Asp970Gly	rs758404071	missense variant	-	NC_000002.12:g.186675908A>G	ExAC,gnomAD
ITGAV	P06756	p.Ile971Phe	rs1475247012	missense variant	-	NC_000002.12:g.186675910A>T	TOPMed
ITGAV	P06756	p.Thr972Asn	rs1373702457	missense variant	-	NC_000002.12:g.186675914C>A	TOPMed
ITGAV	P06756	p.Thr972Ile	rs1373702457	missense variant	-	NC_000002.12:g.186675914C>T	TOPMed
ITGAV	P06756	p.Thr972Ala	rs1399523251	missense variant	-	NC_000002.12:g.186675913A>G	gnomAD
ITGAV	P06756	p.Asn973Ser	rs746931798	missense variant	-	NC_000002.12:g.186675917A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ser974Ala	rs781075410	missense variant	-	NC_000002.12:g.186675919T>G	ExAC,gnomAD
ITGAV	P06756	p.Ser974Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186675920C>T	NCI-TCGA
ITGAV	P06756	p.Val977Ile	rs755860012	missense variant	-	NC_000002.12:g.186676813G>A	ExAC
ITGAV	P06756	p.Thr978Ile	rs777542554	missense variant	-	NC_000002.12:g.186676817C>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn980Ser	rs1314317412	missense variant	-	NC_000002.12:g.186676823A>G	TOPMed
ITGAV	P06756	p.Asn980Asp	rs748927654	missense variant	-	NC_000002.12:g.186676822A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gly984Ser	rs1254140216	missense variant	-	NC_000002.12:g.186676834G>A	gnomAD
ITGAV	P06756	p.Ile985Ser	rs375077965	missense variant	-	NC_000002.12:g.186676838T>G	ESP,ExAC,gnomAD
ITGAV	P06756	p.Gln986Lys	rs1191814113	missense variant	-	NC_000002.12:g.186676840C>A	gnomAD
ITGAV	P06756	p.Pro987Ser	rs1377153728	missense variant	-	NC_000002.12:g.186676843C>T	gnomAD
ITGAV	P06756	p.Ala988Val	rs200757637	missense variant	-	NC_000002.12:g.186676847C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Pro989Thr	rs1394014584	missense variant	-	NC_000002.12:g.186676849C>A	gnomAD
ITGAV	P06756	p.Pro989Leu	rs373527978	missense variant	-	NC_000002.12:g.186676850C>T	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Met990Ile	rs182320312	missense variant	-	NC_000002.12:g.186676854G>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val992Met	rs1373073966	missense variant	-	NC_000002.12:g.186676858G>A	gnomAD
ITGAV	P06756	p.Pro993Leu	rs1438702828	missense variant	-	NC_000002.12:g.186676862C>T	gnomAD
ITGAV	P06756	p.Pro993Thr	COSM3372563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186676861C>A	NCI-TCGA Cosmic
ITGAV	P06756	p.Val994Leu	rs1301994276	missense variant	-	NC_000002.12:g.186676864G>T	gnomAD
ITGAV	P06756	p.Trp995Arg	rs1326531883	missense variant	-	NC_000002.12:g.186676867T>C	gnomAD
ITGAV	P06756	p.Val996Glu	rs199555943	missense variant	-	NC_000002.12:g.186676871T>A	ExAC,gnomAD
ITGAV	P06756	p.Val996Ala	rs199555943	missense variant	-	NC_000002.12:g.186676871T>C	ExAC,gnomAD
ITGAV	P06756	p.Val996Met	rs765504880	missense variant	-	NC_000002.12:g.186676870G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Ile997Phe	rs766543825	missense variant	-	NC_000002.12:g.186676873A>T	ExAC,gnomAD
ITGAV	P06756	p.Ile997Ser	rs1280838410	missense variant	-	NC_000002.12:g.186676874T>G	gnomAD
ITGAV	P06756	p.Leu1002Ile	rs751656134	missense variant	-	NC_000002.12:g.186676888C>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Leu1002Pro	rs1470169000	missense variant	-	NC_000002.12:g.186676889T>C	gnomAD
ITGAV	P06756	p.Ala1003Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.186676891G>A	NCI-TCGA
ITGAV	P06756	p.Gly1004Ala	rs754948591	missense variant	-	NC_000002.12:g.186676895G>C	ExAC,gnomAD
ITGAV	P06756	p.Leu1008Gln	rs1370255907	missense variant	-	NC_000002.12:g.186676907T>A	TOPMed
ITGAV	P06756	p.Val1010Gly	rs202006432	missense variant	-	NC_000002.12:g.186676913T>G	ExAC,gnomAD
ITGAV	P06756	p.Leu1011Trp	rs777400002	missense variant	-	NC_000002.12:g.186676916T>G	ExAC,gnomAD
ITGAV	P06756	p.Leu1011Phe	rs749052409	missense variant	-	NC_000002.12:g.186676917G>T	ExAC,gnomAD
ITGAV	P06756	p.Val1012Leu	rs200142528	missense variant	-	NC_000002.12:g.186676918G>T	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val1012Ile	rs200142528	missense variant	-	NC_000002.12:g.186676918G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Val1014Leu	rs1264465808	missense variant	-	NC_000002.12:g.186676924G>T	TOPMed
ITGAV	P06756	p.Met1015Arg	rs975068369	missense variant	-	NC_000002.12:g.186676928T>G	TOPMed
ITGAV	P06756	p.Met1015Lys	rs975068369	missense variant	-	NC_000002.12:g.186676928T>A	TOPMed
ITGAV	P06756	p.Tyr1016Cys	rs1385633951	missense variant	-	NC_000002.12:g.186676931A>G	gnomAD
ITGAV	P06756	p.Arg1017Lys	rs745374600	missense variant	-	NC_000002.12:g.186676934G>A	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg1017Ser	rs1315682171	missense variant	-	NC_000002.12:g.186676935G>T	gnomAD
ITGAV	P06756	p.Met1018Thr	COSM3695153	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186677198T>C	NCI-TCGA Cosmic
ITGAV	P06756	p.Gly1019Asp	rs200510282	missense variant	-	NC_000002.12:g.186677201G>A	gnomAD
ITGAV	P06756	p.Gly1019Ser	rs1484848462	missense variant	-	NC_000002.12:g.186677200G>A	gnomAD
ITGAV	P06756	p.Arg1023Pro	rs550100664	missense variant	-	NC_000002.12:g.186677213G>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg1023Gln	rs550100664	missense variant	-	NC_000002.12:g.186677213G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Arg1023Trp	rs754438033	missense variant	-	NC_000002.12:g.186677212C>T	gnomAD
ITGAV	P06756	p.Arg1025TyrLeu	NCI-TCGA novel	insertion	-	NC_000002.12:g.186677219_186677220insTTACTT	NCI-TCGA
ITGAV	P06756	p.Arg1025Trp	rs757973780	missense variant	-	NC_000002.12:g.186677218C>T	ExAC,gnomAD
ITGAV	P06756	p.Arg1025Gln	rs138816496	missense variant	-	NC_000002.12:g.186677219G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Gln1028Glu	rs770219291	missense variant	-	NC_000002.12:g.186677227C>G	ExAC,gnomAD
ITGAV	P06756	p.Glu1029Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.186677230G>T	NCI-TCGA
ITGAV	P06756	p.Glu1030Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.186677233G>T	NCI-TCGA
ITGAV	P06756	p.Gln1035Glu	rs1307672391	missense variant	-	NC_000002.12:g.186677248C>G	gnomAD
ITGAV	P06756	p.Gln1035His	rs1440704151	missense variant	-	NC_000002.12:g.186677250G>C	TOPMed
ITGAV	P06756	p.Gln1035Arg	COSM4089543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.186677249A>G	NCI-TCGA Cosmic
ITGAV	P06756	p.Pro1038Leu	rs1376877601	missense variant	-	NC_000002.12:g.186677258C>T	gnomAD
ITGAV	P06756	p.His1039Arg	rs201434983	missense variant	-	NC_000002.12:g.186677261A>G	ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Glu1040Lys	rs774606529	missense variant	-	NC_000002.12:g.186677263G>A	ExAC,gnomAD
ITGAV	P06756	p.Glu1043Asp	rs772298272	missense variant	-	NC_000002.12:g.186677274A>C	ExAC,gnomAD
ITGAV	P06756	p.Gly1044Arg	rs144676143	missense variant	-	NC_000002.12:g.186677275G>A	ESP,ExAC,TOPMed,gnomAD
ITGAV	P06756	p.Asn1045Thr	rs1481510538	missense variant	-	NC_000002.12:g.186677279A>C	gnomAD
ITGAV	P06756	p.Thr1048Ala	rs1175304492	missense variant	-	NC_000002.12:g.186677287A>G	gnomAD
ITGAV	P06756	p.Ter1049Glu	rs764131613	stop lost	-	NC_000002.12:g.186677290T>G	ExAC,gnomAD
PRSS1	P07477	p.Asn2His	rs762980620	missense variant	-	NC_000007.14:g.142749488A>C	ExAC,gnomAD
PRSS1	P07477	p.Asn2Lys	rs140591237	missense variant	-	NC_000007.14:g.142749490T>G	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn2Lys	rs140591237	missense variant	-	NC_000007.14:g.142749490T>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn2Ser	rs1168615709	missense variant	-	NC_000007.14:g.142749489A>G	TOPMed,gnomAD
PRSS1	P07477	p.Pro3Leu	rs374597855	missense variant	-	NC_000007.14:g.142749492C>T	ExAC,gnomAD
PRSS1	P07477	p.Pro3Ser	COSM3634882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142749491C>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Leu4Pro	rs767036052	missense variant	-	NC_000007.14:g.142749495T>C	ExAC,gnomAD
PRSS1	P07477	p.Leu4Phe	COSM745259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142749494C>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Leu5Pro	rs755628827	missense variant	-	NC_000007.14:g.142749498T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr8Ile	rs201027769	missense variant	-	NC_000007.14:g.142749507C>T	TOPMed,gnomAD
PRSS1	P07477	p.Thr8Ala	rs749856663	missense variant	-	NC_000007.14:g.142749506A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr8Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142749506A>T	NCI-TCGA
PRSS1	P07477	p.Thr8LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142749506_142749507AC>-	NCI-TCGA
PRSS1	P07477	p.Thr8Asn	rs201027769	missense variant	-	NC_000007.14:g.142749507C>A	TOPMed,gnomAD
PRSS1	P07477	p.Phe9Ser	rs1309860298	missense variant	-	NC_000007.14:g.142749510T>C	gnomAD
PRSS1	P07477	p.Val10Ala	rs755460834	missense variant	-	NC_000007.14:g.142749513T>C	ExAC,gnomAD
PRSS1	P07477	p.Val10Met	rs1159821029	missense variant	-	NC_000007.14:g.142749512G>A	TOPMed
PRSS1	P07477	p.Ala11Thr	rs1276830284	missense variant	-	NC_000007.14:g.142749515G>A	TOPMed,gnomAD
PRSS1	P07477	p.Ala11Glu	rs748442280	missense variant	-	NC_000007.14:g.142749516C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala11Gly	rs748442280	missense variant	-	NC_000007.14:g.142749516C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala11Thr	RCV000633998	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142749515G>A	ClinVar
PRSS1	P07477	p.Ala12Gly	rs772363999	missense variant	-	NC_000007.14:g.142749519C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala12Val	rs772363999	missense variant	-	NC_000007.14:g.142749519C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala13Val	rs773357729	missense variant	-	NC_000007.14:g.142749522C>T	ExAC,gnomAD
PRSS1	P07477	p.Leu14Phe	rs747228052	missense variant	-	NC_000007.14:g.142749524C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Leu14Val	rs747228052	missense variant	-	NC_000007.14:g.142749524C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Leu14Phe	RCV000633994	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142749524C>T	ClinVar
PRSS1	P07477	p.Ala15Gly	rs200665515	missense variant	-	NC_000007.14:g.142750558C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala15Ser	rs749319393	missense variant	-	NC_000007.14:g.142750557G>T	ExAC,gnomAD
PRSS1	P07477	p.Ala15Thr	rs749319393	missense variant	-	NC_000007.14:g.142750557G>A	ExAC,gnomAD
PRSS1	P07477	p.Ala16Val	rs202003805	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750561C>T	UniProt,dbSNP
PRSS1	P07477	p.Ala16Val	VAR_011693	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750561C>T	UniProt
PRSS1	P07477	p.Ala16Val	RCV000626826	missense variant	-	NC_000007.14:g.142750561C>T	ClinVar
PRSS1	P07477	p.Ala16Val	rs202003805	missense variant	-	NC_000007.14:g.142750561C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17Ser	rs770782578	missense variant	-	NC_000007.14:g.142750563C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17Ala	rs770782578	missense variant	-	NC_000007.14:g.142750563C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17Leu	rs776401461	missense variant	-	NC_000007.14:g.142750564C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17His	rs776401461	missense variant	-	NC_000007.14:g.142750564C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17Arg	rs776401461	missense variant	-	NC_000007.14:g.142750564C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Phe18Ser	rs1186519176	missense variant	-	NC_000007.14:g.142750567T>C	TOPMed,gnomAD
PRSS1	P07477	p.Asp19Gly	rs769369961	missense variant	-	NC_000007.14:g.142750570A>G	ExAC,gnomAD
PRSS1	P07477	p.Asp19Glu	rs1290235881	missense variant	-	NC_000007.14:g.142750571T>A	TOPMed
PRSS1	P07477	p.Asp19Asn	COSM3735772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750569G>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Asp20Asn	rs774895653	missense variant	-	NC_000007.14:g.142750572G>A	ExAC,gnomAD
PRSS1	P07477	p.Asp21Tyr	rs1222840668	missense variant	-	NC_000007.14:g.142750575G>T	TOPMed,gnomAD
PRSS1	P07477	p.Asp21Asn	rs1222840668	missense variant	-	NC_000007.14:g.142750575G>A	TOPMed,gnomAD
PRSS1	P07477	p.Asp22Gly	rs397507442	missense variant	-	NC_000007.14:g.142750579A>G	-
PRSS1	P07477	p.Asp22Gly	RCV000031922	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750579A>G	ClinVar
PRSS1	P07477	p.Lys23Arg	rs111033567	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750582A>G	UniProt,dbSNP
PRSS1	P07477	p.Lys23Arg	VAR_011653	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750582A>G	UniProt
PRSS1	P07477	p.Lys23Arg	rs111033567	missense variant	-	NC_000007.14:g.142750582A>G	-
PRSS1	P07477	p.Lys23Ter	rs1290077635	stop gained	-	NC_000007.14:g.142750581A>T	TOPMed,gnomAD
PRSS1	P07477	p.Lys23Arg	RCV000012653	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750582A>G	ClinVar
PRSS1	P07477	p.Ile24Val	rs774960689	missense variant	-	NC_000007.14:g.142750584A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ile24Leu	rs774960689	missense variant	-	NC_000007.14:g.142750584A>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val25Ile	rs768051473	missense variant	-	NC_000007.14:g.142750587G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val25Ala	rs564368252	missense variant	-	NC_000007.14:g.142750588T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val25Leu	rs768051473	missense variant	-	NC_000007.14:g.142750587G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val25Ile	RCV000529818	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750587G>A	ClinVar
PRSS1	P07477	p.Gly26Glu	rs753883523	missense variant	-	NC_000007.14:g.142750591G>A	ExAC,gnomAD
PRSS1	P07477	p.Gly26Arg	rs766579839	missense variant	-	NC_000007.14:g.142750590G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly26Arg	COSM4926355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750590G>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Tyr28Ter	rs772505940	stop gained	-	NC_000007.14:g.142750597dup	ExAC
PRSS1	P07477	p.Tyr28His	rs1405433158	missense variant	-	NC_000007.14:g.142750596T>C	TOPMed
PRSS1	P07477	p.Tyr28Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142750597A>G	NCI-TCGA
PRSS1	P07477	p.Asn29Ile	rs111033566	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>T	UniProt,dbSNP
PRSS1	P07477	p.Asn29Ile	VAR_006720	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>T	UniProt
PRSS1	P07477	p.Asn29Ile	rs111033566	missense variant	-	NC_000007.14:g.142750600A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn29Lys	rs747010881	missense variant	-	NC_000007.14:g.142750601C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn29Ile	RCV000506924	missense variant	-	NC_000007.14:g.142750600A>T	ClinVar
PRSS1	P07477	p.Asn29Thr	RCV000031923	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750600A>C	ClinVar
PRSS1	P07477	p.Asn29Ile	RCV000763166	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750600A>T	ClinVar
PRSS1	P07477	p.Asn29Thr	rs111033566	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>C	UniProt,dbSNP
PRSS1	P07477	p.Asn29Thr	VAR_012712	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>C	UniProt
PRSS1	P07477	p.Asn29Thr	rs111033566	missense variant	-	NC_000007.14:g.142750600A>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn29Ile	RCV000012652	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750600A>T	ClinVar
PRSS1	P07477	p.Cys30Ser	rs1432168030	missense variant	-	NC_000007.14:g.142750602T>A	gnomAD
PRSS1	P07477	p.Cys30Trp	rs780969708	missense variant	-	NC_000007.14:g.142750604T>G	ExAC
PRSS1	P07477	p.Cys30Tyr	COSM6108803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750603G>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Glu32Asp	rs1253944625	missense variant	-	NC_000007.14:g.142750610G>C	TOPMed
PRSS1	P07477	p.Glu32Gly	rs1449124096	missense variant	-	NC_000007.14:g.142750609A>G	gnomAD
PRSS1	P07477	p.Glu32Lys	rs1350428784	missense variant	-	NC_000007.14:g.142750608G>A	gnomAD
PRSS1	P07477	p.Ser34Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142750615C>T	NCI-TCGA
PRSS1	P07477	p.Val35Leu	rs1286351441	missense variant	-	NC_000007.14:g.142750617G>C	gnomAD
PRSS1	P07477	p.Val35Ile	rs1286351441	missense variant	-	NC_000007.14:g.142750617G>A	gnomAD
PRSS1	P07477	p.Pro36Arg	rs769459903	missense variant	-	NC_000007.14:g.142750621C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro36Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142750621C>T	NCI-TCGA
PRSS1	P07477	p.Pro36Arg	RCV000526911	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750621C>G	ClinVar
PRSS1	P07477	p.Pro36Arg	RCV000764693	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750621C>G	ClinVar
PRSS1	P07477	p.Tyr37Cys	COSM599514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750624A>G	NCI-TCGA Cosmic
PRSS1	P07477	p.Gln38Lys	rs775259109	missense variant	-	NC_000007.14:g.142750626C>A	ExAC,gnomAD
PRSS1	P07477	p.Gln38Glu	rs775259109	missense variant	-	NC_000007.14:g.142750626C>G	ExAC,gnomAD
PRSS1	P07477	p.Gln38Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142750626C>T	NCI-TCGA
PRSS1	P07477	p.Val39Ala	rs397507439	missense variant	-	NC_000007.14:g.142750630T>C	-
PRSS1	P07477	p.Val39Ala	RCV000031918	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750630T>C	ClinVar
PRSS1	P07477	p.Ser40Phe	rs768277012	missense variant	-	NC_000007.14:g.142750633C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser40Tyr	rs768277012	missense variant	-	NC_000007.14:g.142750633C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser40Cys	rs768277012	missense variant	-	NC_000007.14:g.142750633C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn42His	rs1207195050	missense variant	-	NC_000007.14:g.142750638A>C	gnomAD
PRSS1	P07477	p.Asn42Ser	rs1223231582	missense variant	-	NC_000007.14:g.142750639A>G	TOPMed
PRSS1	P07477	p.Ser43Phe	rs1437198196	missense variant	-	NC_000007.14:g.142750642C>T	gnomAD
PRSS1	P07477	p.Gly44Ala	rs773739445	missense variant	-	NC_000007.14:g.142750645G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly44Asp	rs773739445	missense variant	-	NC_000007.14:g.142750645G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly44Ser	rs772636606	missense variant	-	NC_000007.14:g.142750644G>A	ExAC,gnomAD
PRSS1	P07477	p.Gly44Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142750644G>T	NCI-TCGA
PRSS1	P07477	p.Tyr45Ser	rs1331796325	missense variant	-	NC_000007.14:g.142750648A>C	TOPMed
PRSS1	P07477	p.His46Leu	COSM6108802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750651A>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Gly49Asp	rs138464021	missense variant	-	NC_000007.14:g.142750660G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly49Val	rs138464021	missense variant	-	NC_000007.14:g.142750660G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly49Val	RCV000455215	missense variant	-	NC_000007.14:g.142750660G>T	ClinVar
PRSS1	P07477	p.Gly50Asp	rs1166804108	missense variant	-	NC_000007.14:g.142750663G>A	gnomAD
PRSS1	P07477	p.Gly50Ser	rs1368323821	missense variant	-	NC_000007.14:g.142750662G>A	TOPMed
PRSS1	P07477	p.Ser51Tyr	rs1415566919	missense variant	-	NC_000007.14:g.142750666C>A	gnomAD
PRSS1	P07477	p.Leu52Val	rs757218067	missense variant	-	NC_000007.14:g.142750668C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Leu52Phe	rs757218067	missense variant	-	NC_000007.14:g.142750668C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ile53Asn	rs149246646	missense variant	-	NC_000007.14:g.142750672T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn54Ser	RCV000012656	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750675A>G	ClinVar
PRSS1	P07477	p.Asn54Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142750676C>A	NCI-TCGA
PRSS1	P07477	p.Asn54Lys	rs148440491	missense variant	-	NC_000007.14:g.142750676C>G	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn54Ser	rs144422014	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750675A>G	UniProt,dbSNP
PRSS1	P07477	p.Asn54Ser	VAR_037908	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750675A>G	UniProt
PRSS1	P07477	p.Asn54Ser	rs144422014	missense variant	-	NC_000007.14:g.142750675A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu55Gln	rs1365488828	missense variant	-	NC_000007.14:g.142750677G>C	TOPMed,gnomAD
PRSS1	P07477	p.Glu55Lys	COSM3634892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750677G>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Gln56Ter	rs147366981	stop gained	-	NC_000007.14:g.142750680C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln56Lys	rs147366981	missense variant	-	NC_000007.14:g.142750680C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln56Arg	rs1338095991	missense variant	-	NC_000007.14:g.142750681A>G	gnomAD
PRSS1	P07477	p.Trp57Cys	rs1338646513	missense variant	-	NC_000007.14:g.142750685G>T	gnomAD
PRSS1	P07477	p.Trp57Gly	rs778570468	missense variant	-	NC_000007.14:g.142750683T>G	ExAC,gnomAD
PRSS1	P07477	p.Val58Met	rs1219784204	missense variant	-	NC_000007.14:g.142750686G>A	gnomAD
PRSS1	P07477	p.Val58Gly	rs1192452565	missense variant	-	NC_000007.14:g.142750687T>G	TOPMed
PRSS1	P07477	p.Val59Ile	rs1280472573	missense variant	-	NC_000007.14:g.142750689G>A	gnomAD
PRSS1	P07477	p.Ser60Leu	COSM3735311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750693C>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Ala61Glu	rs370761165	missense variant	-	NC_000007.14:g.142750696C>A	ESP,ExAC,gnomAD
PRSS1	P07477	p.Gly62Ala	rs149455681	missense variant	-	NC_000007.14:g.142750699G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.His63Arg	rs776806418	missense variant	-	NC_000007.14:g.142750702A>G	ExAC,gnomAD
PRSS1	P07477	p.Tyr65His	rs1224714031	missense variant	-	NC_000007.14:g.142750707T>C	gnomAD
PRSS1	P07477	p.Lys66Ter	rs759809930	stop gained	-	NC_000007.14:g.142750710A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser67Tyr	rs765342413	missense variant	-	NC_000007.14:g.142750714C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser67Phe	rs765342413	missense variant	-	NC_000007.14:g.142750714C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg68Cys	rs145867820	missense variant	-	NC_000007.14:g.142751775C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg68His	rs757111793	missense variant	-	NC_000007.14:g.142751776G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg68Leu	rs757111793	missense variant	-	NC_000007.14:g.142751776G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ile69Met	rs1431688642	missense variant	-	NC_000007.14:g.142751780C>G	TOPMed
PRSS1	P07477	p.Ile69Asn	rs1237210606	missense variant	-	NC_000007.14:g.142751779T>A	gnomAD
PRSS1	P07477	p.Ile69Met	RCV000539474	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751780C>G	ClinVar
PRSS1	P07477	p.Gln70Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142751782A>T	NCI-TCGA
PRSS1	P07477	p.Val71Met	rs745551657	missense variant	-	NC_000007.14:g.142751784G>A	ExAC,gnomAD
PRSS1	P07477	p.Arg72Thr	rs769266571	missense variant	-	NC_000007.14:g.142751788G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Leu73Met	rs1248279792	missense variant	-	NC_000007.14:g.142751790C>A	TOPMed,gnomAD
PRSS1	P07477	p.Leu73Val	rs1248279792	missense variant	-	NC_000007.14:g.142751790C>G	TOPMed,gnomAD
PRSS1	P07477	p.Leu73Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142751791T>A	NCI-TCGA
PRSS1	P07477	p.Gly74Ter	rs1166447807	stop gained	-	NC_000007.14:g.142751793G>T	gnomAD
PRSS1	P07477	p.Gly74Glu	COSM3634894	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751794G>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Glu75Lys	rs779649447	missense variant	-	NC_000007.14:g.142751796G>A	ExAC,gnomAD
PRSS1	P07477	p.His76Gln	rs1254878660	missense variant	-	NC_000007.14:g.142751801C>A	TOPMed
PRSS1	P07477	p.His76Pro	rs1468857521	missense variant	-	NC_000007.14:g.142751800A>C	TOPMed
PRSS1	P07477	p.Ile78Val	rs768255958	missense variant	-	NC_000007.14:g.142751805A>G	ExAC,gnomAD
PRSS1	P07477	p.Glu79Gly	rs1179289939	missense variant	-	NC_000007.14:g.142751809A>G	TOPMed,gnomAD
PRSS1	P07477	p.Glu79Lys	rs111033564	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751808G>A	UniProt,dbSNP
PRSS1	P07477	p.Glu79Lys	VAR_037909	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751808G>A	UniProt
PRSS1	P07477	p.Glu79Lys	rs111033564	missense variant	-	NC_000007.14:g.142751808G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu79Asp	COSM1448759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751810A>C	NCI-TCGA Cosmic
PRSS1	P07477	p.Glu79Lys	RCV000757691	missense variant	-	NC_000007.14:g.142751808G>A	ClinVar
PRSS1	P07477	p.Glu79Lys	RCV000012655	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751808G>A	ClinVar
PRSS1	P07477	p.Gly83Trp	rs372411481	missense variant	-	NC_000007.14:g.142751820G>T	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly83Arg	rs372411481	missense variant	-	NC_000007.14:g.142751820G>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly83Arg	rs372411481	missense variant	-	NC_000007.14:g.142751820G>C	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly83Glu	COSM3634898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751821G>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Asn84Ile	rs1385704003	missense variant	-	NC_000007.14:g.142751824A>T	TOPMed
PRSS1	P07477	p.Glu85Lys	rs759654213	missense variant	-	NC_000007.14:g.142751826G>A	ExAC,gnomAD
PRSS1	P07477	p.Glu85Ter	rs759654213	stop gained	-	NC_000007.14:g.142751826G>T	ExAC,gnomAD
PRSS1	P07477	p.Glu85Gln	COSM745258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751826G>C	NCI-TCGA Cosmic
PRSS1	P07477	p.Gln86Ter	rs146398318	stop gained	-	NC_000007.14:g.142751829C>T	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Phe87Ile	rs757132372	missense variant	-	NC_000007.14:g.142751832T>A	ExAC,gnomAD
PRSS1	P07477	p.Phe87Leu	rs767354237	missense variant	-	NC_000007.14:g.142751834C>A	ExAC,gnomAD
PRSS1	P07477	p.Phe87Leu	RCV000528244	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751834C>A	ClinVar
PRSS1	P07477	p.Ile88Phe	rs1298928593	missense variant	-	NC_000007.14:g.142751835A>T	gnomAD
PRSS1	P07477	p.Ile88Asn	rs1383806868	missense variant	-	NC_000007.14:g.142751836T>A	TOPMed,gnomAD
PRSS1	P07477	p.Ile88Met	rs199836666	missense variant	-	NC_000007.14:g.142751837C>G	ExAC,TOPMed
PRSS1	P07477	p.Asn89His	rs755816580	missense variant	-	NC_000007.14:g.142751838A>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn89Asp	rs755816580	missense variant	-	NC_000007.14:g.142751838A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn89Tyr	rs755816580	missense variant	-	NC_000007.14:g.142751838A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn89Ile	rs1446407497	missense variant	-	NC_000007.14:g.142751839A>T	TOPMed
PRSS1	P07477	p.Asn89Lys	rs779618969	missense variant	-	NC_000007.14:g.142751840T>A	ExAC,gnomAD
PRSS1	P07477	p.Ala90Val	rs984312649	missense variant	-	NC_000007.14:g.142751842C>T	TOPMed,gnomAD
PRSS1	P07477	p.Ala90Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142751841G>A	NCI-TCGA
PRSS1	P07477	p.Ala91Val	rs748678217	missense variant	-	NC_000007.14:g.142751845C>T	ExAC,gnomAD
PRSS1	P07477	p.Ala91Thr	rs778549864	missense variant	-	NC_000007.14:g.142751844G>A	ExAC,gnomAD
PRSS1	P07477	p.Lys92Asn	rs908729974	missense variant	-	NC_000007.14:g.142751849G>C	TOPMed,gnomAD
PRSS1	P07477	p.Ile93Phe	rs1484477439	missense variant	-	NC_000007.14:g.142751850A>T	TOPMed
PRSS1	P07477	p.Ile94Thr	rs1461511291	missense variant	-	NC_000007.14:g.142751854T>C	gnomAD
PRSS1	P07477	p.Ile94Met	rs545007137	missense variant	-	NC_000007.14:g.142751855C>G	1000Genomes,ExAC,gnomAD
PRSS1	P07477	p.Arg95Gly	rs201775810	missense variant	-	NC_000007.14:g.142751856C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg95His	rs375820192	missense variant	-	NC_000007.14:g.142751857G>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg95Pro	rs375820192	missense variant	-	NC_000007.14:g.142751857G>C	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg95Cys	rs201775810	missense variant	-	NC_000007.14:g.142751856C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.His96Gln	rs1209409723	missense variant	-	NC_000007.14:g.142751861C>A	TOPMed,gnomAD
PRSS1	P07477	p.His96Tyr	rs1268805560	missense variant	-	NC_000007.14:g.142751859C>T	TOPMed
PRSS1	P07477	p.Pro97His	rs765315575	missense variant	-	NC_000007.14:g.142751863C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro97Leu	rs765315575	missense variant	-	NC_000007.14:g.142751863C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro97Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142751863C>G	NCI-TCGA
PRSS1	P07477	p.Pro97Ser	rs1297813457	missense variant	-	NC_000007.14:g.142751862C>T	TOPMed
PRSS1	P07477	p.Gln98LysTyrAsnSerArg	RCV000707326	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751865_142751878delinsAAATACAACAGCCG	ClinVar
PRSS1	P07477	p.Gln98Lys	rs750348889	missense variant	-	NC_000007.14:g.142751865C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln98Arg	rs1407084355	missense variant	-	NC_000007.14:g.142751866A>G	gnomAD
PRSS1	P07477	p.Gln98His	RCV000703574	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751867A>T	ClinVar
PRSS1	P07477	p.Tyr99Ter	rs373659879	stop gained	-	NC_000007.14:g.142751870C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Tyr99Cys	rs1454816504	missense variant	-	NC_000007.14:g.142751869A>G	gnomAD
PRSS1	P07477	p.Asp100Asn	rs199507985	missense variant	-	NC_000007.14:g.142751871G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys102Glu	rs754618801	missense variant	-	NC_000007.14:g.142751877A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys102Met	rs778568523	missense variant	-	NC_000007.14:g.142751878A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys102Asn	rs1373631104	missense variant	-	NC_000007.14:g.142751879G>T	TOPMed
PRSS1	P07477	p.Lys102Ter	rs754618801	stop gained	-	NC_000007.14:g.142751877A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys102Arg	rs778568523	missense variant	-	NC_000007.14:g.142751878A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr103Ile	rs1195251647	missense variant	-	NC_000007.14:g.142751881C>T	TOPMed
PRSS1	P07477	p.Leu104Pro	rs1554499091	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751884T>C	UniProt,dbSNP
PRSS1	P07477	p.Leu104Pro	VAR_011654	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751884T>C	UniProt
PRSS1	P07477	p.Leu104Pro	rs1554499091	missense variant	-	NC_000007.14:g.142751884T>C	-
PRSS1	P07477	p.Leu104Pro	RCV000507513	missense variant	-	NC_000007.14:g.142751884T>C	ClinVar
PRSS1	P07477	p.Asn105Asp	rs200254850	missense variant	-	NC_000007.14:g.142751886A>G	ExAC,gnomAD
PRSS1	P07477	p.Asn105Lys	rs1264201914	missense variant	-	NC_000007.14:g.142751888C>A	gnomAD
PRSS1	P07477	p.Asp107Tyr	rs1323769980	missense variant	-	NC_000007.14:g.142751892G>T	gnomAD
PRSS1	P07477	p.Asp107Gly	rs758965932	missense variant	-	NC_000007.14:g.142751893A>G	ExAC,gnomAD
PRSS1	P07477	p.Asp107Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142751892G>A	NCI-TCGA
PRSS1	P07477	p.Ile108Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142751896T>C	NCI-TCGA
PRSS1	P07477	p.Met109Leu	rs201165989	missense variant	-	NC_000007.14:g.142751898A>C	ExAC,gnomAD
PRSS1	P07477	p.Met109Thr	rs1482612529	missense variant	-	NC_000007.14:g.142751899T>C	gnomAD
PRSS1	P07477	p.Ile111Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142751904A>G	NCI-TCGA
PRSS1	P07477	p.Leu113His	rs1426710453	missense variant	-	NC_000007.14:g.142751911T>A	TOPMed,gnomAD
PRSS1	P07477	p.Ser115Thr	rs606231344	missense variant	-	NC_000007.14:g.142751916T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser115Thr	RCV000149410	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751916T>A	ClinVar
PRSS1	P07477	p.Ser115Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.142751917C>G	NCI-TCGA
PRSS1	P07477	p.Arg116Cys	rs387906698	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751919C>T	UniProt,dbSNP
PRSS1	P07477	p.Arg116Cys	VAR_011655	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751919C>T	UniProt
PRSS1	P07477	p.Arg116Cys	rs387906698	missense variant	-	NC_000007.14:g.142751919C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116Leu	rs199769221	missense variant	-	NC_000007.14:g.142751920G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116Ser	rs387906698	missense variant	-	NC_000007.14:g.142751919C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116His	rs199769221	missense variant	-	NC_000007.14:g.142751920G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116Cys	RCV000022814	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751919C>T	ClinVar
PRSS1	P07477	p.Arg116Pro	rs199769221	missense variant	-	NC_000007.14:g.142751920G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116Pro	RCV000149411	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751920G>C	ClinVar
PRSS1	P07477	p.Ala117Ser	rs1454337017	missense variant	-	NC_000007.14:g.142751922G>T	gnomAD
PRSS1	P07477	p.Ala117Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142751922G>A	NCI-TCGA
PRSS1	P07477	p.Val118Gly	rs753618826	missense variant	-	NC_000007.14:g.142751926T>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val118Ile	rs766098231	missense variant	-	NC_000007.14:g.142751925G>A	ExAC,gnomAD
PRSS1	P07477	p.Val118Glu	rs753618826	missense variant	-	NC_000007.14:g.142751926T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn120Lys	rs606231348	missense variant	-	NC_000007.14:g.142751933C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala121Thr	RCV000012660	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751934G>A	ClinVar
PRSS1	P07477	p.Ala121Thr	rs199422123	missense variant	-	NC_000007.14:g.142751934G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala121Ser	rs199422123	missense variant	-	NC_000007.14:g.142751934G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg122Gly	rs111033568	missense variant	-	NC_000007.14:g.142751937C>G	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg122Cys	rs111033568	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751937C>T	UniProt,dbSNP
PRSS1	P07477	p.Arg122Cys	VAR_012713	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751937C>T	UniProt
PRSS1	P07477	p.Arg122His	rs267606982	missense variant	-	NC_000007.14:g.142751938_142751939delinsAT	-
PRSS1	P07477	p.Arg122His	rs267606982	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751938_142751939delinsAT	UniProt,dbSNP
PRSS1	P07477	p.Arg122His	VAR_006721	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751938_142751939delinsAT	UniProt
PRSS1	P07477	p.Arg122His	RCV000012651	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751938G>A	ClinVar
PRSS1	P07477	p.Arg122His	rs111033565	missense variant	-	NC_000007.14:g.142751938G>A	ExAC,gnomAD
PRSS1	P07477	p.Arg122Cys	rs111033568	missense variant	-	NC_000007.14:g.142751937C>T	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg122His	RCV000487005	missense variant	-	NC_000007.14:g.142751938G>A	ClinVar
PRSS1	P07477	p.Arg122His	RCV000012657	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751938_142751939delinsAT	ClinVar
PRSS1	P07477	p.Arg122Cys	RCV000012658	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751937C>T	ClinVar
PRSS1	P07477	p.Arg122Cys	RCV000508091	missense variant	-	NC_000007.14:g.142751937C>T	ClinVar
PRSS1	P07477	p.Arg122Gly	RCV000508377	missense variant	-	NC_000007.14:g.142751937C>G	ClinVar
PRSS1	P07477	p.Val123Leu	rs144403091	missense variant	-	NC_000007.14:g.142751940G>T	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val123Met	rs144403091	missense variant	-	NC_000007.14:g.142751940G>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val123Met	RCV000458624	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751940G>A	ClinVar
PRSS1	P07477	p.Ser124Phe	rs1484849588	missense variant	-	NC_000007.14:g.142751944C>T	gnomAD
PRSS1	P07477	p.Ser124Thr	COSM6108799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751943T>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Thr125Ala	rs200976326	missense variant	-	NC_000007.14:g.142751946A>G	ExAC,gnomAD
PRSS1	P07477	p.Ser127Tyr	COSM1448760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751953C>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Leu128Gln	rs749518244	missense variant	-	NC_000007.14:g.142751956T>A	ExAC,gnomAD
PRSS1	P07477	p.Leu128Pro	rs749518244	missense variant	-	NC_000007.14:g.142751956T>C	ExAC,gnomAD
PRSS1	P07477	p.Pro129His	rs768673799	missense variant	-	NC_000007.14:g.142751959C>A	ExAC
PRSS1	P07477	p.Thr130Pro	rs11553845	missense variant	-	NC_000007.14:g.142751961A>C	ExAC,gnomAD
PRSS1	P07477	p.Thr130Ile	rs193922655	missense variant	-	NC_000007.14:g.142751962C>T	-
PRSS1	P07477	p.Thr130Ala	rs11553845	missense variant	-	NC_000007.14:g.142751961A>G	ExAC,gnomAD
PRSS1	P07477	p.Thr130Ile	RCV000030383	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751962C>T	ClinVar
PRSS1	P07477	p.Ala131Thr	rs141011596	missense variant	-	NC_000007.14:g.142751964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala131Ser	rs141011596	missense variant	-	NC_000007.14:g.142751964G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala131Pro	rs141011596	missense variant	-	NC_000007.14:g.142751964G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro132His	rs759452330	missense variant	-	NC_000007.14:g.142751968C>A	ExAC,gnomAD
PRSS1	P07477	p.Pro132Thr	rs1453661121	missense variant	-	NC_000007.14:g.142751967C>A	gnomAD
PRSS1	P07477	p.Pro133Arg	rs193922656	missense variant	-	NC_000007.14:g.142751971C>G	-
PRSS1	P07477	p.Pro133Ser	COSM3634902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751970C>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Pro133Arg	RCV000030384	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751971C>G	ClinVar
PRSS1	P07477	p.Ala134Thr	rs752456117	missense variant	-	NC_000007.14:g.142751973G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr135Ala	rs199637670	missense variant	-	NC_000007.14:g.142751976A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr135Asn	rs1224059005	missense variant	-	NC_000007.14:g.142751977C>A	TOPMed,gnomAD
PRSS1	P07477	p.Thr137Arg	rs117497341	missense variant	-	NC_000007.14:g.142751983C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr137Met	rs117497341	missense variant	-	NC_000007.14:g.142751983C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr137Met	RCV000757693	missense variant	-	NC_000007.14:g.142751983C>T	ClinVar
PRSS1	P07477	p.Lys138Asn	rs749482440	missense variant	-	NC_000007.14:g.142751987G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys138Glu	rs11553849	missense variant	-	NC_000007.14:g.142751985A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys139Ser	rs768853338	missense variant	-	NC_000007.14:g.142751989G>C	ExAC,gnomAD
PRSS1	P07477	p.Cys139Ter	rs141847266	stop gained	-	NC_000007.14:g.142751990C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys139Ser	RCV000031919	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751988T>A	ClinVar
PRSS1	P07477	p.Cys139Phe	RCV000757692	missense variant	-	NC_000007.14:g.142751989G>T	ClinVar
PRSS1	P07477	p.Cys139Ser	rs397507440	missense variant	-	NC_000007.14:g.142751988T>A	-
PRSS1	P07477	p.Cys139Phe	VAR_011656	Missense	Pancreatitis, hereditary (PCTT) [MIM:167800]	-	UniProt
PRSS1	P07477	p.Leu140ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142751989_142751990insC	NCI-TCGA
PRSS1	P07477	p.Ile141Asn	rs748208676	missense variant	-	NC_000007.14:g.142751995T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ile141Thr	rs748208676	missense variant	-	NC_000007.14:g.142751995T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ile141Met	rs772256079	missense variant	-	NC_000007.14:g.142751996C>G	ExAC,gnomAD
PRSS1	P07477	p.Ser142Pro	rs1164996242	missense variant	-	NC_000007.14:g.142751997T>C	TOPMed
PRSS1	P07477	p.Ser142Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142751998C>A	NCI-TCGA
PRSS1	P07477	p.Gly143Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752000G>A	NCI-TCGA
PRSS1	P07477	p.Trp144Cys	rs1164331073	missense variant	-	NC_000007.14:g.142752005G>T	gnomAD
PRSS1	P07477	p.Gly145Arg	rs1221038304	missense variant	-	NC_000007.14:g.142752006G>C	gnomAD
PRSS1	P07477	p.Asn146Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752011C>A	NCI-TCGA
PRSS1	P07477	p.Asn146Tyr	COSM3634904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752009A>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Thr147Asn	rs769724683	missense variant	-	NC_000007.14:g.142752013C>A	ExAC,gnomAD
PRSS1	P07477	p.Ala148Val	rs762545562	missense variant	-	NC_000007.14:g.142752016C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala148Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752015G>A	NCI-TCGA
PRSS1	P07477	p.Ala148Pro	rs775290386	missense variant	-	NC_000007.14:g.142752015G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala148Ser	COSM1568578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752015G>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Ala148Gly	rs762545562	missense variant	-	NC_000007.14:g.142752016C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser149Arg	rs372698855	missense variant	-	NC_000007.14:g.142752020C>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser149Asn	rs1209417221	missense variant	-	NC_000007.14:g.142752019G>A	TOPMed,gnomAD
PRSS1	P07477	p.Gly151Arg	rs1483916222	missense variant	-	NC_000007.14:g.142752024G>C	gnomAD
PRSS1	P07477	p.Ala152Thr	rs766731858	missense variant	-	NC_000007.14:g.142752027G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala152Gly	rs770315312	missense variant	-	NC_000007.14:g.142752431C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala152Asp	rs770315312	missense variant	-	NC_000007.14:g.142752431C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp153Gly	rs753073310	missense variant	-	NC_000007.14:g.142752434A>G	ExAC,gnomAD
PRSS1	P07477	p.Asp153Glu	rs1321694161	missense variant	-	NC_000007.14:g.142752435C>A	gnomAD
PRSS1	P07477	p.Asp153His	rs61735002	missense variant	-	NC_000007.14:g.142752433G>C	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp153Asn	rs61735002	missense variant	-	NC_000007.14:g.142752433G>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Tyr154His	rs1199917100	missense variant	-	NC_000007.14:g.142752436T>C	gnomAD
PRSS1	P07477	p.Pro155Arg	rs1333246826	missense variant	-	NC_000007.14:g.142752440C>G	TOPMed
PRSS1	P07477	p.Pro155Thr	rs1355136604	missense variant	-	NC_000007.14:g.142752439C>A	TOPMed
PRSS1	P07477	p.Asp156Glu	rs146076691	missense variant	-	NC_000007.14:g.142752444C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu157Lys	RCV000545622	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752445G>A	ClinVar
PRSS1	P07477	p.Glu157Lys	rs200890507	missense variant	-	NC_000007.14:g.142752445G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu157Gln	rs200890507	missense variant	-	NC_000007.14:g.142752445G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln159Ter	rs754802107	stop gained	-	NC_000007.14:g.142752451C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln159His	COSM6176357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752453G>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Cys160Gly	rs1172272446	missense variant	-	NC_000007.14:g.142752454T>G	TOPMed
PRSS1	P07477	p.Cys160Phe	rs778796800	missense variant	-	NC_000007.14:g.142752455G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys160Tyr	rs778796800	missense variant	-	NC_000007.14:g.142752455G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys160Arg	rs1172272446	missense variant	-	NC_000007.14:g.142752454T>C	TOPMed
PRSS1	P07477	p.Leu161Pro	rs777441424	missense variant	-	NC_000007.14:g.142752458T>C	ExAC,gnomAD
PRSS1	P07477	p.Leu161Arg	rs777441424	missense variant	-	NC_000007.14:g.142752458T>G	ExAC,gnomAD
PRSS1	P07477	p.Leu161Met	rs1444451561	missense variant	-	NC_000007.14:g.142752457C>A	TOPMed
PRSS1	P07477	p.Asp162His	rs1171452978	missense variant	-	NC_000007.14:g.142752460G>C	gnomAD
PRSS1	P07477	p.Asp162Val	rs1248894315	missense variant	-	NC_000007.14:g.142752461A>T	TOPMed
PRSS1	P07477	p.Ala163Thr	rs557691366	missense variant	-	NC_000007.14:g.142752463G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro164Thr	rs760120835	missense variant	-	NC_000007.14:g.142752466C>A	ExAC,gnomAD
PRSS1	P07477	p.Pro164Ser	rs760120835	missense variant	-	NC_000007.14:g.142752466C>T	ExAC,gnomAD
PRSS1	P07477	p.Val165Ala	rs202228418	missense variant	-	NC_000007.14:g.142752470T>C	1000Genomes,ExAC,gnomAD
PRSS1	P07477	p.Leu166Pro	rs776120935	missense variant	-	NC_000007.14:g.142752473T>C	ExAC,gnomAD
PRSS1	P07477	p.Ser167Ile	rs1232891794	missense variant	-	NC_000007.14:g.142752476G>T	TOPMed,gnomAD
PRSS1	P07477	p.Ser167Arg	rs763453065	missense variant	-	NC_000007.14:g.142752477C>G	ExAC,gnomAD
PRSS1	P07477	p.Ser167Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752476G>A	NCI-TCGA
PRSS1	P07477	p.Ser167Thr	rs1232891794	missense variant	-	NC_000007.14:g.142752476G>C	TOPMed,gnomAD
PRSS1	P07477	p.Gln168Arg	rs1222150378	missense variant	-	NC_000007.14:g.142752479A>G	gnomAD
PRSS1	P07477	p.Gln168Lys	rs575283731	missense variant	-	NC_000007.14:g.142752478C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln168ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.142752477C>-	NCI-TCGA
PRSS1	P07477	p.Gln168His	rs1367226833	missense variant	-	NC_000007.14:g.142752480G>C	gnomAD
PRSS1	P07477	p.Ala169Thr	rs1285885738	missense variant	-	NC_000007.14:g.142752481G>A	gnomAD
PRSS1	P07477	p.Ala169Asp	rs751892043	missense variant	-	NC_000007.14:g.142752482C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys170Met	rs767634678	missense variant	-	NC_000007.14:g.142752485A>T	ExAC,gnomAD
PRSS1	P07477	p.Lys170Asn	rs750427023	missense variant	-	NC_000007.14:g.142752486G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys170Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752486G>T	NCI-TCGA
PRSS1	P07477	p.Lys170Glu	rs201550522	missense variant	-	NC_000007.14:g.142752484A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys170Glu	RCV000611439	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752484A>G	ClinVar
PRSS1	P07477	p.Cys171Ter	rs752598739	stop gained	-	NC_000007.14:g.142752489T>A	ExAC,gnomAD
PRSS1	P07477	p.Cys171Tyr	rs200973660	missense variant	-	NC_000007.14:g.142752488G>A	ExAC,gnomAD
PRSS1	P07477	p.Cys171Ser	rs200973660	missense variant	-	NC_000007.14:g.142752488G>C	ExAC,gnomAD
PRSS1	P07477	p.Glu172Gln	rs758254763	missense variant	-	NC_000007.14:g.142752490G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu172Lys	rs758254763	missense variant	-	NC_000007.14:g.142752490G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala173Asp	rs777531305	missense variant	-	NC_000007.14:g.142752494C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala173Gly	rs777531305	missense variant	-	NC_000007.14:g.142752494C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala173Ser	rs1459352387	missense variant	-	NC_000007.14:g.142752493G>T	TOPMed
PRSS1	P07477	p.Ser174Pro	rs1473604680	missense variant	-	NC_000007.14:g.142752496T>C	TOPMed
PRSS1	P07477	p.Ser174Phe	rs746669985	missense variant	-	NC_000007.14:g.142752497C>T	ExAC,gnomAD
PRSS1	P07477	p.Tyr175Asn	rs756821075	missense variant	-	NC_000007.14:g.142752499T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Tyr175His	rs756821075	missense variant	-	NC_000007.14:g.142752499T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly177Glu	rs1468060476	missense variant	-	NC_000007.14:g.142752506G>A	TOPMed
PRSS1	P07477	p.Gly177Val	rs1468060476	missense variant	-	NC_000007.14:g.142752506G>T	TOPMed
PRSS1	P07477	p.Gly177Ala	rs1468060476	missense variant	-	NC_000007.14:g.142752506G>C	TOPMed
PRSS1	P07477	p.Gly177Arg	rs1240508430	missense variant	-	NC_000007.14:g.142752505G>A	TOPMed
PRSS1	P07477	p.Gly177Ter	rs1240508430	stop gained	-	NC_000007.14:g.142752505G>T	TOPMed
PRSS1	P07477	p.Lys178Asn	rs267601347	missense variant	-	NC_000007.14:g.142752510G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys178Arg	rs1239083612	missense variant	-	NC_000007.14:g.142752509A>G	TOPMed
PRSS1	P07477	p.Ile179Val	rs1386024325	missense variant	-	NC_000007.14:g.142752511A>G	TOPMed,gnomAD
PRSS1	P07477	p.Ile179Leu	rs1386024325	missense variant	-	NC_000007.14:g.142752511A>C	TOPMed,gnomAD
PRSS1	P07477	p.Thr180Ile	rs745420768	missense variant	-	NC_000007.14:g.142752515C>T	ExAC,gnomAD
PRSS1	P07477	p.Ser181Asn	rs201719096	missense variant	-	NC_000007.14:g.142752518G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser181Gly	rs376907511	missense variant	-	NC_000007.14:g.142752517A>G	ESP,ExAC,gnomAD
PRSS1	P07477	p.Ser181Asn	RCV000601108	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752518G>A	ClinVar
PRSS1	P07477	p.Asn182Asp	rs769160661	missense variant	-	NC_000007.14:g.142752520A>G	ExAC,gnomAD
PRSS1	P07477	p.Asn182Lys	rs1348773645	missense variant	-	NC_000007.14:g.142752522C>G	TOPMed
PRSS1	P07477	p.Met183Val	rs200070487	missense variant	-	NC_000007.14:g.142752523A>G	ExAC,gnomAD
PRSS1	P07477	p.Met183Thr	rs762123204	missense variant	-	NC_000007.14:g.142752524T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Met183Lys	rs762123204	missense variant	-	NC_000007.14:g.142752524T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Phe184Val	rs1382404555	missense variant	-	NC_000007.14:g.142752526T>G	TOPMed
PRSS1	P07477	p.Phe184Leu	rs1382404555	missense variant	-	NC_000007.14:g.142752526T>C	TOPMed
PRSS1	P07477	p.Phe184Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752528C>A	NCI-TCGA
PRSS1	P07477	p.Cys185Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752530G>C	NCI-TCGA
PRSS1	P07477	p.Val186Met	rs1157690064	missense variant	-	NC_000007.14:g.142752532G>A	TOPMed
PRSS1	P07477	p.Phe188Leu	rs1250731677	missense variant	-	NC_000007.14:g.142752540C>G	gnomAD
PRSS1	P07477	p.Phe188Tyr	rs1192281478	missense variant	-	NC_000007.14:g.142752539T>A	TOPMed
PRSS1	P07477	p.Leu189Phe	rs1439241122	missense variant	-	NC_000007.14:g.142752541C>T	gnomAD
PRSS1	P07477	p.Leu189Pro	rs1478010608	missense variant	-	NC_000007.14:g.142752542T>C	TOPMed
PRSS1	P07477	p.Leu189Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752541C>A	NCI-TCGA
PRSS1	P07477	p.Gly191Arg	rs752688735	missense variant	-	NC_000007.14:g.142752547G>A	ExAC,gnomAD
PRSS1	P07477	p.Gly192Ser	rs1185286983	missense variant	-	NC_000007.14:g.142752550G>A	gnomAD
PRSS1	P07477	p.Lys193Glu	rs1366653442	missense variant	-	NC_000007.14:g.142752553A>G	gnomAD
PRSS1	P07477	p.Lys193Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752555G>T	NCI-TCGA
PRSS1	P07477	p.Lys193Met	COSM6108795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752554A>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Asp194Val	rs1217657614	missense variant	-	NC_000007.14:g.142752557A>T	TOPMed
PRSS1	P07477	p.Cys196Gly	rs763907908	missense variant	-	NC_000007.14:g.142752562T>G	ExAC,gnomAD
PRSS1	P07477	p.Gln197Ter	rs757054367	stop gained	-	NC_000007.14:g.142752565C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln197Ter	RCV000780651	nonsense	-	NC_000007.14:g.142752565C>T	ClinVar
PRSS1	P07477	p.Gly198Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752868G>A	NCI-TCGA
PRSS1	P07477	p.Gly198Asp	rs1201496061	missense variant	-	NC_000007.14:g.142752869G>A	TOPMed
PRSS1	P07477	p.Gly201Arg	rs1412477456	missense variant	-	NC_000007.14:g.142752877G>C	TOPMed,gnomAD
PRSS1	P07477	p.Gly201Val	rs1288010897	missense variant	-	NC_000007.14:g.142752878G>T	TOPMed,gnomAD
PRSS1	P07477	p.Gly202Ala	rs199531292	missense variant	-	NC_000007.14:g.142752881G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro203His	rs1289842951	missense variant	-	NC_000007.14:g.142752884C>A	gnomAD
PRSS1	P07477	p.Val204Ala	rs758874255	missense variant	-	NC_000007.14:g.142752887T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val204Met	RCV000705874	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752886G>A	ClinVar
PRSS1	P07477	p.Val205Ile	rs778021503	missense variant	-	NC_000007.14:g.142752889G>A	ExAC,gnomAD
PRSS1	P07477	p.Val205Asp	rs747422004	missense variant	-	NC_000007.14:g.142752890T>A	ExAC
PRSS1	P07477	p.Cys206Phe	rs150930992	missense variant	-	NC_000007.14:g.142752893G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys206Ser	rs781457756	missense variant	-	NC_000007.14:g.142752892T>A	ExAC,gnomAD
PRSS1	P07477	p.Cys206Ser	rs150930992	missense variant	-	NC_000007.14:g.142752893G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn207Lys	rs146995038	missense variant	-	NC_000007.14:g.142752897T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly208Ala	rs189270875	missense variant	-	NC_000007.14:g.142752899G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly208Arg	rs1282721655	missense variant	-	NC_000007.14:g.142752898G>A	gnomAD
PRSS1	P07477	p.Gly208Val	COSM1086583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752899G>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Gly208Ala	RCV000472464	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752899G>C	ClinVar
PRSS1	P07477	p.Gln209Ter	rs140793689	stop gained	-	NC_000007.14:g.142752901C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln209Glu	rs140793689	missense variant	-	NC_000007.14:g.142752901C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln209Arg	rs576596527	missense variant	-	NC_000007.14:g.142752902A>G	1000Genomes,ExAC,gnomAD
PRSS1	P07477	p.Leu210Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752904C>A	NCI-TCGA
PRSS1	P07477	p.Gly212Arg	COSM3634910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752910G>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Gly212Glu	COSM1699475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752911G>A	NCI-TCGA Cosmic
PRSS1	P07477	p.Val213Ile	rs200902389	missense variant	-	NC_000007.14:g.142752913G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val213Ile	RCV000239335	missense variant	-	NC_000007.14:g.142752913G>A	ClinVar
PRSS1	P07477	p.Ser215Pro	rs1366495669	missense variant	-	NC_000007.14:g.142752919T>C	gnomAD
PRSS1	P07477	p.Ser215Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752919T>G	NCI-TCGA
PRSS1	P07477	p.Ser215Phe	COSM3634911	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752920C>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Gly217Ser	rs1310865247	missense variant	-	NC_000007.14:g.142752925G>A	TOPMed,gnomAD
PRSS1	P07477	p.GlyAsp217GlyTyr	rs1554499629	missense variant	-	NC_000007.14:g.142752927_142752928delinsCT	-
PRSS1	P07477	p.Asp218Val	rs199878511	missense variant	-	NC_000007.14:g.142752929A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp218Val	RCV000462723	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752929A>T	ClinVar
PRSS1	P07477	p.Asp218Tyr	rs574391339	missense variant	-	NC_000007.14:g.142752928G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp218Tyr	RCV000592280	missense variant	-	NC_000007.14:g.142752927_142752928delinsCT	ClinVar
PRSS1	P07477	p.Asp218Asn	rs574391339	missense variant	-	NC_000007.14:g.142752928G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp218Tyr	RCV000819321	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752927_142752928delinsCT	ClinVar
PRSS1	P07477	p.Cys220Trp	rs1481112469	missense variant	-	NC_000007.14:g.142752936T>G	gnomAD
PRSS1	P07477	p.Cys220Tyr	rs757674146	missense variant	-	NC_000007.14:g.142752935G>A	ExAC,gnomAD
PRSS1	P07477	p.Lys223Asn	rs1439609895	missense variant	-	NC_000007.14:g.142752945G>C	TOPMed,gnomAD
PRSS1	P07477	p.Asn224Lys	rs1184689147	missense variant	-	NC_000007.14:g.142752948C>G	TOPMed,gnomAD
PRSS1	P07477	p.Asn224Ser	rs1355998219	missense variant	-	NC_000007.14:g.142752947A>G	TOPMed
PRSS1	P07477	p.Asn224Lys	rs1184689147	missense variant	-	NC_000007.14:g.142752948C>A	TOPMed,gnomAD
PRSS1	P07477	p.Lys225Arg	rs541223359	missense variant	-	NC_000007.14:g.142752950A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys225Arg	RCV000594431	missense variant	-	NC_000007.14:g.142752950A>G	ClinVar
PRSS1	P07477	p.Lys225Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752949A>G	NCI-TCGA
PRSS1	P07477	p.Lys225Asn	rs375871958	missense variant	-	NC_000007.14:g.142752951G>T	ESP,ExAC,gnomAD
PRSS1	P07477	p.Lys225Arg	RCV000814171	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752950A>G	ClinVar
PRSS1	P07477	p.Pro226Ser	rs1164573795	missense variant	-	NC_000007.14:g.142752952C>T	gnomAD
PRSS1	P07477	p.Pro226Leu	COSM5042587	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752953C>T	NCI-TCGA Cosmic
PRSS1	P07477	p.Tyr229His	rs1309672836	missense variant	-	NC_000007.14:g.142752961T>C	gnomAD
PRSS1	P07477	p.Thr230Ser	rs768590288	missense variant	-	NC_000007.14:g.142752964A>T	ExAC,gnomAD
PRSS1	P07477	p.Val232Ile	rs1445405636	missense variant	-	NC_000007.14:g.142752970G>A	TOPMed,gnomAD
PRSS1	P07477	p.Val232Leu	rs1445405636	missense variant	-	NC_000007.14:g.142752970G>C	TOPMed,gnomAD
PRSS1	P07477	p.Val232Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752971T>G	NCI-TCGA
PRSS1	P07477	p.Val232Phe	rs1445405636	missense variant	-	NC_000007.14:g.142752970G>T	TOPMed,gnomAD
PRSS1	P07477	p.Asn234Lys	rs773353079	missense variant	-	NC_000007.14:g.142752978C>A	ExAC,gnomAD
PRSS1	P07477	p.Lys237Asn	rs138362833	missense variant	-	NC_000007.14:g.142752987A>C	ExAC,gnomAD
PRSS1	P07477	p.Lys237Glu	rs150083974	missense variant	-	NC_000007.14:g.142752985A>G	ExAC,gnomAD
PRSS1	P07477	p.Trp238Ter	rs1200820723	stop gained	-	NC_000007.14:g.142752989G>A	gnomAD
PRSS1	P07477	p.Lys240Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142752996G>T	NCI-TCGA
PRSS1	P07477	p.Asn241Tyr	rs141554682	missense variant	-	NC_000007.14:g.142752997A>T	ExAC,gnomAD
PRSS1	P07477	p.Asn241Asp	rs141554682	missense variant	-	NC_000007.14:g.142752997A>G	ExAC,gnomAD
PRSS1	P07477	p.Ile243Thr	rs1554499664	missense variant	-	NC_000007.14:g.142753004T>C	-
PRSS1	P07477	p.Ile243Val	rs1204423444	missense variant	-	NC_000007.14:g.142753003A>G	gnomAD
PRSS1	P07477	p.Ile243Thr	RCV000633999	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142753004T>C	ClinVar
PRSS1	P07477	p.Ala244Pro	rs762589386	missense variant	-	NC_000007.14:g.142753006G>C	ExAC,gnomAD
PRSS1	P07477	p.Ala244Val	rs763496896	missense variant	-	NC_000007.14:g.142753007C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala245Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142753010C>T	NCI-TCGA
PRSS1	P07477	p.Asn246Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.142753012A>G	NCI-TCGA
PRSS1	P07477	p.Ser247Gly	rs757690615	missense variant	-	NC_000007.14:g.142753015A>G	ExAC,gnomAD
PRSS1	P07477	p.Ser247Ile	rs1479014593	missense variant	-	NC_000007.14:g.142753016G>T	gnomAD
PRSS1	P07477	p.Asn2Ser	rs1168615709	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790206A>G	TOPMed,gnomAD
PRSS1	P07477	p.Asn2His	rs762980620	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790205A>C	ExAC,gnomAD
PRSS1	P07477	p.Asn2Lys	rs140591237	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790207T>G	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn2Lys	rs140591237	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790207T>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro3Leu	rs374597855	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790209C>T	ExAC,gnomAD
PRSS1	P07477	p.Leu4Pro	rs767036052	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790212T>C	ExAC,gnomAD
PRSS1	P07477	p.Leu5Pro	rs755628827	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790215T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr8Ile	rs201027769	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790224C>T	TOPMed,gnomAD
PRSS1	P07477	p.Thr8Ala	rs749856663	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790223A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr8Asn	rs201027769	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790224C>A	TOPMed,gnomAD
PRSS1	P07477	p.Phe9Ser	rs1309860298	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790227T>C	gnomAD
PRSS1	P07477	p.Val10Met	rs1159821029	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790229G>A	TOPMed
PRSS1	P07477	p.Val10Ala	rs755460834	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790230T>C	ExAC,gnomAD
PRSS1	P07477	p.Ala11Gly	rs748442280	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790233C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala11Thr	rs1276830284	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790232G>A	TOPMed,gnomAD
PRSS1	P07477	p.Ala11Glu	rs748442280	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790233C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala11Thr	RCV000633998	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142749515G>A	ClinVar
PRSS1	P07477	p.Ala12Val	rs772363999	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790236C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala12Gly	rs772363999	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790236C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala13Val	rs773357729	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790239C>T	ExAC,gnomAD
PRSS1	P07477	p.Leu14Phe	rs747228052	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790241C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Leu14Val	rs747228052	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790241C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Leu14Phe	RCV000633994	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142749524C>T	ClinVar
PRSS1	P07477	p.Ala15Gly	rs200665515	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791275C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala15Ser	rs749319393	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791274G>T	ExAC,gnomAD
PRSS1	P07477	p.Ala15Thr	rs749319393	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791274G>A	ExAC,gnomAD
PRSS1	P07477	p.Ala16Val	RCV000626826	missense variant	-	NC_000007.14:g.142750561C>T	ClinVar
PRSS1	P07477	p.Ala16Val	rs202003805	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750561C>T	UniProt,dbSNP
PRSS1	P07477	p.Ala16Val	VAR_011693	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750561C>T	UniProt
PRSS1	P07477	p.Ala16Val	rs202003805	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791278C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17Ala	rs770782578	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791280C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17Ser	rs770782578	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791280C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17Arg	rs776401461	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791281C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17Leu	rs776401461	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791281C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro17His	rs776401461	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791281C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Phe18Ser	rs1186519176	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791284T>C	TOPMed,gnomAD
PRSS1	P07477	p.Asp19Gly	rs769369961	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791287A>G	ExAC,gnomAD
PRSS1	P07477	p.Asp19Glu	rs1290235881	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791288T>A	TOPMed
PRSS1	P07477	p.Asp20Asn	rs774895653	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791289G>A	ExAC,gnomAD
PRSS1	P07477	p.Asp21Tyr	rs1222840668	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791292G>T	TOPMed,gnomAD
PRSS1	P07477	p.Asp21Asn	rs1222840668	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791292G>A	TOPMed,gnomAD
PRSS1	P07477	p.Asp22Gly	RCV000031922	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750579A>G	ClinVar
PRSS1	P07477	p.Lys23Arg	rs111033567	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750582A>G	UniProt,dbSNP
PRSS1	P07477	p.Lys23Arg	VAR_011653	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750582A>G	UniProt
PRSS1	P07477	p.Lys23Ter	rs1290077635	stop gained	-	CHR_HSCHR7_2_CTG6:g.142791298A>T	TOPMed,gnomAD
PRSS1	P07477	p.Lys23Arg	RCV000012653	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750582A>G	ClinVar
PRSS1	P07477	p.Ile24Val	rs774960689	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791301A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ile24Leu	rs774960689	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791301A>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val25Ile	rs768051473	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791304G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val25Ile	RCV000529818	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750587G>A	ClinVar
PRSS1	P07477	p.Val25Leu	rs768051473	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791304G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val25Ala	rs564368252	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791305T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly26Glu	rs753883523	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791308G>A	ExAC,gnomAD
PRSS1	P07477	p.Gly26Arg	rs766579839	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791307G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Tyr28His	rs1405433158	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791313T>C	TOPMed
PRSS1	P07477	p.Tyr28Ter	rs772505940	stop gained	-	CHR_HSCHR7_2_CTG6:g.142791314dup	ExAC
PRSS1	P07477	p.Asn29Ile	RCV000506924	missense variant	-	NC_000007.14:g.142750600A>T	ClinVar
PRSS1	P07477	p.Asn29Ile	rs111033566	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>T	UniProt,dbSNP
PRSS1	P07477	p.Asn29Ile	VAR_006720	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>T	UniProt
PRSS1	P07477	p.Asn29Lys	rs747010881	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791318C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn29Thr	rs111033566	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791317A>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn29Ile	rs111033566	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791317A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn29Ile	RCV000012652	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750600A>T	ClinVar
PRSS1	P07477	p.Asn29Thr	RCV000031923	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750600A>C	ClinVar
PRSS1	P07477	p.Asn29Ile	RCV000763166	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750600A>T	ClinVar
PRSS1	P07477	p.Asn29Thr	rs111033566	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>C	UniProt,dbSNP
PRSS1	P07477	p.Asn29Thr	VAR_012712	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>C	UniProt
PRSS1	P07477	p.Cys30Trp	rs780969708	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791321T>G	ExAC
PRSS1	P07477	p.Cys30Ser	rs1432168030	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791319T>A	gnomAD
PRSS1	P07477	p.Glu32Gly	rs1449124096	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791326A>G	gnomAD
PRSS1	P07477	p.Glu32Asp	rs1253944625	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791327G>C	TOPMed
PRSS1	P07477	p.Glu32Lys	rs1350428784	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791325G>A	gnomAD
PRSS1	P07477	p.Val35Leu	rs1286351441	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791334G>C	gnomAD
PRSS1	P07477	p.Val35Ile	rs1286351441	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791334G>A	gnomAD
PRSS1	P07477	p.Pro36Arg	rs769459903	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791338C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro36Arg	RCV000526911	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750621C>G	ClinVar
PRSS1	P07477	p.Pro36Arg	RCV000764693	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750621C>G	ClinVar
PRSS1	P07477	p.Gln38Lys	rs775259109	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791343C>A	ExAC,gnomAD
PRSS1	P07477	p.Gln38Glu	rs775259109	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791343C>G	ExAC,gnomAD
PRSS1	P07477	p.Val39Ala	RCV000031918	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750630T>C	ClinVar
PRSS1	P07477	p.Ser40Cys	rs768277012	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791350C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser40Tyr	rs768277012	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791350C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser40Phe	rs768277012	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791350C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn42His	rs1207195050	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791355A>C	gnomAD
PRSS1	P07477	p.Asn42Ser	rs1223231582	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791356A>G	TOPMed
PRSS1	P07477	p.Ser43Phe	rs1437198196	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791359C>T	gnomAD
PRSS1	P07477	p.Gly44Asp	rs773739445	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791362G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly44Ser	rs772636606	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791361G>A	ExAC,gnomAD
PRSS1	P07477	p.Gly44Ala	rs773739445	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791362G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Tyr45Ser	rs1331796325	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791365A>C	TOPMed
PRSS1	P07477	p.Gly49Asp	rs138464021	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791377G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly49Val	rs138464021	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791377G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly49Val	RCV000455215	missense variant	-	NC_000007.14:g.142750660G>T	ClinVar
PRSS1	P07477	p.Gly50Ser	rs1368323821	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791379G>A	TOPMed
PRSS1	P07477	p.Gly50Asp	rs1166804108	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791380G>A	gnomAD
PRSS1	P07477	p.Ser51Tyr	rs1415566919	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791383C>A	gnomAD
PRSS1	P07477	p.Leu52Phe	rs757218067	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791385C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Leu52Val	rs757218067	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791385C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ile53Asn	rs149246646	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791389T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn54Ser	RCV000012656	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750675A>G	ClinVar
PRSS1	P07477	p.Asn54Ser	rs144422014	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791392A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn54Ser	rs144422014	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750675A>G	UniProt,dbSNP
PRSS1	P07477	p.Asn54Ser	VAR_037908	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750675A>G	UniProt
PRSS1	P07477	p.Asn54Lys	rs148440491	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791393C>G	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu55Gln	rs1365488828	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791394G>C	TOPMed,gnomAD
PRSS1	P07477	p.Gln56Arg	rs1338095991	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791398A>G	gnomAD
PRSS1	P07477	p.Gln56Ter	rs147366981	stop gained	-	CHR_HSCHR7_2_CTG6:g.142791397C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln56Lys	rs147366981	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791397C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Trp57Gly	rs778570468	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791400T>G	ExAC,gnomAD
PRSS1	P07477	p.Trp57Cys	rs1338646513	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791402G>T	gnomAD
PRSS1	P07477	p.Val58Met	rs1219784204	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791403G>A	gnomAD
PRSS1	P07477	p.Val58Gly	rs1192452565	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791404T>G	TOPMed
PRSS1	P07477	p.Val59Ile	rs1280472573	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791406G>A	gnomAD
PRSS1	P07477	p.Ala61Glu	rs370761165	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791413C>A	ESP,ExAC,gnomAD
PRSS1	P07477	p.Gly62Ala	rs149455681	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791416G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.His63Arg	rs776806418	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791419A>G	ExAC,gnomAD
PRSS1	P07477	p.Tyr65His	rs1224714031	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791424T>C	gnomAD
PRSS1	P07477	p.Lys66Ter	rs759809930	stop gained	-	CHR_HSCHR7_2_CTG6:g.142791427A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser67Tyr	rs765342413	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791431C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser67Phe	rs765342413	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791431C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg68His	rs757111793	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792493G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg68Cys	rs145867820	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792492C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg68Leu	rs757111793	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792493G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ile69Met	rs1431688642	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792497C>G	TOPMed
PRSS1	P07477	p.Ile69Asn	rs1237210606	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792496T>A	gnomAD
PRSS1	P07477	p.Ile69Met	RCV000539474	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751780C>G	ClinVar
PRSS1	P07477	p.Val71Met	rs745551657	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792501G>A	ExAC,gnomAD
PRSS1	P07477	p.Arg72Thr	rs769266571	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792505G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Leu73Val	rs1248279792	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792507C>G	TOPMed,gnomAD
PRSS1	P07477	p.Leu73Met	rs1248279792	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792507C>A	TOPMed,gnomAD
PRSS1	P07477	p.Gly74Ter	rs1166447807	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792510G>T	gnomAD
PRSS1	P07477	p.Glu75Lys	rs779649447	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792513G>A	ExAC,gnomAD
PRSS1	P07477	p.His76Pro	rs1468857521	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792517A>C	TOPMed
PRSS1	P07477	p.His76Gln	rs1254878660	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792518C>A	TOPMed
PRSS1	P07477	p.Ile78Val	rs768255958	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792522A>G	ExAC,gnomAD
PRSS1	P07477	p.Glu79Lys	rs111033564	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751808G>A	UniProt,dbSNP
PRSS1	P07477	p.Glu79Lys	VAR_037909	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751808G>A	UniProt
PRSS1	P07477	p.Glu79Lys	rs111033564	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu79Lys	RCV000757691	missense variant	-	NC_000007.14:g.142751808G>A	ClinVar
PRSS1	P07477	p.Glu79Lys	RCV000012655	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751808G>A	ClinVar
PRSS1	P07477	p.Glu79Gly	rs1179289939	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792526A>G	TOPMed,gnomAD
PRSS1	P07477	p.Gly83Arg	rs372411481	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792537G>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly83Arg	rs372411481	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792537G>C	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly83Trp	rs372411481	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792537G>T	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn84Ile	rs1385704003	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792541A>T	TOPMed
PRSS1	P07477	p.Glu85Ter	rs759654213	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792543G>T	ExAC,gnomAD
PRSS1	P07477	p.Glu85Lys	rs759654213	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792543G>A	ExAC,gnomAD
PRSS1	P07477	p.Gln86Ter	rs146398318	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792546C>T	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Phe87Leu	rs767354237	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792551C>A	ExAC,gnomAD
PRSS1	P07477	p.Phe87Ile	rs757132372	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792549T>A	ExAC,gnomAD
PRSS1	P07477	p.Phe87Leu	RCV000528244	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751834C>A	ClinVar
PRSS1	P07477	p.Ile88Phe	rs1298928593	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792552A>T	gnomAD
PRSS1	P07477	p.Ile88Asn	rs1383806868	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792553T>A	TOPMed,gnomAD
PRSS1	P07477	p.Ile88Met	rs199836666	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792554C>G	ExAC,TOPMed
PRSS1	P07477	p.Asn89His	rs755816580	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792555A>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn89Tyr	rs755816580	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792555A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn89Lys	rs779618969	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792557T>A	ExAC,gnomAD
PRSS1	P07477	p.Asn89Ile	rs1446407497	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792556A>T	TOPMed
PRSS1	P07477	p.Asn89Asp	rs755816580	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792555A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala90Val	rs984312649	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792559C>T	TOPMed,gnomAD
PRSS1	P07477	p.Ala91Val	rs748678217	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792562C>T	ExAC,gnomAD
PRSS1	P07477	p.Ala91Thr	rs778549864	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792561G>A	ExAC,gnomAD
PRSS1	P07477	p.Lys92Asn	rs908729974	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792566G>C	TOPMed,gnomAD
PRSS1	P07477	p.Ile93Phe	rs1484477439	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792567A>T	TOPMed
PRSS1	P07477	p.Ile94Met	rs545007137	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792572C>G	1000Genomes,ExAC,gnomAD
PRSS1	P07477	p.Ile94Thr	rs1461511291	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792571T>C	gnomAD
PRSS1	P07477	p.Arg95His	rs375820192	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792574G>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg95Pro	rs375820192	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792574G>C	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg95Cys	rs201775810	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792573C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg95Gly	rs201775810	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792573C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.His96Gln	rs1209409723	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792578C>A	TOPMed,gnomAD
PRSS1	P07477	p.His96Tyr	rs1268805560	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792576C>T	TOPMed
PRSS1	P07477	p.Pro97His	rs765315575	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792580C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro97Leu	rs765315575	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792580C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro97Ser	rs1297813457	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792579C>T	TOPMed
PRSS1	P07477	p.Gln98His	RCV000703574	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751867A>T	ClinVar
PRSS1	P07477	p.Gln98LysTyrAsnSerArg	RCV000707326	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751865_142751878delinsAAATACAACAGCCG	ClinVar
PRSS1	P07477	p.Gln98Arg	rs1407084355	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792583A>G	gnomAD
PRSS1	P07477	p.Gln98Lys	rs750348889	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792582C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Tyr99Cys	rs1454816504	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792586A>G	gnomAD
PRSS1	P07477	p.Tyr99Ter	rs373659879	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792587C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp100Asn	rs199507985	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792588G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys102Glu	rs754618801	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792594A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys102Met	rs778568523	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792595A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys102Ter	rs754618801	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792594A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys102Asn	rs1373631104	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792596G>T	TOPMed
PRSS1	P07477	p.Lys102Arg	rs778568523	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792595A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr103Ile	rs1195251647	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792598C>T	TOPMed
PRSS1	P07477	p.Leu104Pro	rs1554499091	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751884T>C	UniProt,dbSNP
PRSS1	P07477	p.Leu104Pro	VAR_011654	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751884T>C	UniProt
PRSS1	P07477	p.Leu104Pro	RCV000507513	missense variant	-	NC_000007.14:g.142751884T>C	ClinVar
PRSS1	P07477	p.Asn105Asp	rs200254850	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792603A>G	ExAC,gnomAD
PRSS1	P07477	p.Asn105Lys	rs1264201914	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792605C>A	gnomAD
PRSS1	P07477	p.Asp107Gly	rs758965932	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792610A>G	ExAC,gnomAD
PRSS1	P07477	p.Asp107Tyr	rs1323769980	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792609G>T	gnomAD
PRSS1	P07477	p.Met109Leu	rs201165989	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792615A>C	ExAC,gnomAD
PRSS1	P07477	p.Met109Thr	rs1482612529	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792616T>C	gnomAD
PRSS1	P07477	p.Leu113His	rs1426710453	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792628T>A	TOPMed,gnomAD
PRSS1	P07477	p.Ser115Thr	rs606231344	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792633T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser115Thr	RCV000149410	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751916T>A	ClinVar
PRSS1	P07477	p.Arg116Cys	RCV000022814	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751919C>T	ClinVar
PRSS1	P07477	p.Arg116Pro	rs199769221	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792637G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116Cys	rs387906698	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751919C>T	UniProt,dbSNP
PRSS1	P07477	p.Arg116Cys	VAR_011655	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751919C>T	UniProt
PRSS1	P07477	p.Arg116His	rs199769221	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792637G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116Cys	rs387906698	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792636C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116Ser	rs387906698	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792636C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116Leu	rs199769221	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792637G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg116Pro	RCV000149411	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751920G>C	ClinVar
PRSS1	P07477	p.Ala117Ser	rs1454337017	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792639G>T	gnomAD
PRSS1	P07477	p.Val118Ile	rs766098231	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792642G>A	ExAC,gnomAD
PRSS1	P07477	p.Val118Gly	rs753618826	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792643T>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val118Glu	rs753618826	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792643T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asn120Lys	rs606231348	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792650C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala121Thr	RCV000012660	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751934G>A	ClinVar
PRSS1	P07477	p.Ala121Thr	rs199422123	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792651G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala121Ser	rs199422123	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792651G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg122His	RCV000012651	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751938G>A	ClinVar
PRSS1	P07477	p.Arg122Cys	rs111033568	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792654C>T	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg122Cys	rs111033568	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751937C>T	UniProt,dbSNP
PRSS1	P07477	p.Arg122Cys	VAR_012713	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751937C>T	UniProt
PRSS1	P07477	p.Arg122His	rs267606982	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751938_142751939delinsAT	UniProt,dbSNP
PRSS1	P07477	p.Arg122His	VAR_006721	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751938_142751939delinsAT	UniProt
PRSS1	P07477	p.Arg122Gly	rs111033568	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792654C>G	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Arg122His	RCV000487005	missense variant	-	NC_000007.14:g.142751938G>A	ClinVar
PRSS1	P07477	p.Arg122Cys	RCV000508091	missense variant	-	NC_000007.14:g.142751937C>T	ClinVar
PRSS1	P07477	p.Arg122Gly	RCV000508377	missense variant	-	NC_000007.14:g.142751937C>G	ClinVar
PRSS1	P07477	p.Arg122His	RCV000012657	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751938_142751939delinsAT	ClinVar
PRSS1	P07477	p.Arg122Cys	RCV000012658	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751937C>T	ClinVar
PRSS1	P07477	p.Arg122His	rs111033565	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792655G>A	ExAC,gnomAD
PRSS1	P07477	p.Val123Met	rs144403091	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792657G>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val123Leu	rs144403091	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792657G>T	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val123Met	RCV000458624	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751940G>A	ClinVar
PRSS1	P07477	p.Ser124Phe	rs1484849588	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792661C>T	gnomAD
PRSS1	P07477	p.Thr125Ala	rs200976326	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792663A>G	ExAC,gnomAD
PRSS1	P07477	p.Leu128Pro	rs749518244	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792673T>C	ExAC,gnomAD
PRSS1	P07477	p.Leu128Gln	rs749518244	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792673T>A	ExAC,gnomAD
PRSS1	P07477	p.Pro129His	rs768673799	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792676C>A	ExAC
PRSS1	P07477	p.Thr130Ala	rs11553845	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792678A>G	ExAC,gnomAD
PRSS1	P07477	p.Thr130Pro	rs11553845	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792678A>C	ExAC,gnomAD
PRSS1	P07477	p.Thr130Ile	RCV000030383	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751962C>T	ClinVar
PRSS1	P07477	p.Ala131Thr	rs141011596	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792681G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala131Ser	rs141011596	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792681G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala131Pro	rs141011596	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792681G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro132Thr	rs1453661121	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792684C>A	gnomAD
PRSS1	P07477	p.Pro132His	rs759452330	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792685C>A	ExAC,gnomAD
PRSS1	P07477	p.Pro133Arg	RCV000030384	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751971C>G	ClinVar
PRSS1	P07477	p.Ala134Thr	rs752456117	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792690G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr135Asn	rs1224059005	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792694C>A	TOPMed,gnomAD
PRSS1	P07477	p.Thr135Ala	rs199637670	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792693A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr137Met	rs117497341	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792700C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr137Arg	rs117497341	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792700C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Thr137Met	RCV000757693	missense variant	-	NC_000007.14:g.142751983C>T	ClinVar
PRSS1	P07477	p.Lys138Asn	rs749482440	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792704G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys138Glu	rs11553849	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792702A>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys139Ser	RCV000031919	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751988T>A	ClinVar
PRSS1	P07477	p.Cys139Ser	rs768853338	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792706G>C	ExAC,gnomAD
PRSS1	P07477	p.Cys139Phe	RCV000757692	missense variant	-	NC_000007.14:g.142751989G>T	ClinVar
PRSS1	P07477	p.Cys139Ter	rs141847266	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792707C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys139Phe	VAR_011656	Missense	Pancreatitis, hereditary (PCTT) [MIM:167800]	-	UniProt
PRSS1	P07477	p.Ile141Met	rs772256079	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792713C>G	ExAC,gnomAD
PRSS1	P07477	p.Ile141Asn	rs748208676	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792712T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ile141Thr	rs748208676	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792712T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser142Pro	rs1164996242	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792714T>C	TOPMed
PRSS1	P07477	p.Trp144Cys	rs1164331073	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792722G>T	gnomAD
PRSS1	P07477	p.Gly145Arg	rs1221038304	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792723G>C	gnomAD
PRSS1	P07477	p.Thr147Asn	rs769724683	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792730C>A	ExAC,gnomAD
PRSS1	P07477	p.Ala148Pro	rs775290386	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792732G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala148Val	rs762545562	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792733C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala148Gly	rs762545562	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792733C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser149Asn	rs1209417221	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792736G>A	TOPMed,gnomAD
PRSS1	P07477	p.Ser149Arg	rs372698855	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792737C>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly151Arg	rs1483916222	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792741G>C	gnomAD
PRSS1	P07477	p.Ala152Asp	rs770315312	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793148C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala152Thr	rs766731858	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792744G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala152Gly	rs770315312	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793148C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp153Asn	rs61735002	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793150G>A	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp153Glu	rs1321694161	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793152C>A	gnomAD
PRSS1	P07477	p.Asp153Gly	rs753073310	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793151A>G	ExAC,gnomAD
PRSS1	P07477	p.Asp153His	rs61735002	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793150G>C	ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Tyr154His	rs1199917100	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793153T>C	gnomAD
PRSS1	P07477	p.Pro155Thr	rs1355136604	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793156C>A	TOPMed
PRSS1	P07477	p.Pro155Arg	rs1333246826	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793157C>G	TOPMed
PRSS1	P07477	p.Asp156Glu	rs146076691	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793161C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu157Lys	RCV000545622	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752445G>A	ClinVar
PRSS1	P07477	p.Glu157Gln	rs200890507	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793162G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu157Lys	rs200890507	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793162G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln159Ter	rs754802107	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793168C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys160Tyr	rs778796800	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793172G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys160Phe	rs778796800	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793172G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys160Arg	rs1172272446	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793171T>C	TOPMed
PRSS1	P07477	p.Cys160Gly	rs1172272446	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793171T>G	TOPMed
PRSS1	P07477	p.Leu161Pro	rs777441424	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793175T>C	ExAC,gnomAD
PRSS1	P07477	p.Leu161Met	rs1444451561	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793174C>A	TOPMed
PRSS1	P07477	p.Leu161Arg	rs777441424	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793175T>G	ExAC,gnomAD
PRSS1	P07477	p.Asp162His	rs1171452978	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793177G>C	gnomAD
PRSS1	P07477	p.Asp162Val	rs1248894315	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793178A>T	TOPMed
PRSS1	P07477	p.Ala163Thr	rs557691366	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793180G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro164Ser	rs760120835	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793183C>T	ExAC,gnomAD
PRSS1	P07477	p.Pro164Thr	rs760120835	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793183C>A	ExAC,gnomAD
PRSS1	P07477	p.Val165Ala	rs202228418	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793187T>C	1000Genomes,ExAC,gnomAD
PRSS1	P07477	p.Leu166Pro	rs776120935	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793190T>C	ExAC,gnomAD
PRSS1	P07477	p.Ser167Thr	rs1232891794	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793193G>C	TOPMed,gnomAD
PRSS1	P07477	p.Ser167Ile	rs1232891794	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793193G>T	TOPMed,gnomAD
PRSS1	P07477	p.Ser167Arg	rs763453065	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793194C>G	ExAC,gnomAD
PRSS1	P07477	p.Gln168Lys	rs575283731	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793195C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln168Arg	rs1222150378	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793196A>G	gnomAD
PRSS1	P07477	p.Gln168His	rs1367226833	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793197G>C	gnomAD
PRSS1	P07477	p.Ala169Thr	rs1285885738	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793198G>A	gnomAD
PRSS1	P07477	p.Ala169Asp	rs751892043	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793199C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys170Asn	rs750427023	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793203G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys170Glu	rs201550522	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793201A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys170Met	rs767634678	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793202A>T	ExAC,gnomAD
PRSS1	P07477	p.Lys170Glu	RCV000611439	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752484A>G	ClinVar
PRSS1	P07477	p.Cys171Ser	rs200973660	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793205G>C	ExAC,gnomAD
PRSS1	P07477	p.Cys171Tyr	rs200973660	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793205G>A	ExAC,gnomAD
PRSS1	P07477	p.Cys171Ter	rs752598739	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793206T>A	ExAC,gnomAD
PRSS1	P07477	p.Glu172Gln	rs758254763	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793207G>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Glu172Lys	rs758254763	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793207G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala173Ser	rs1459352387	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793210G>T	TOPMed
PRSS1	P07477	p.Ala173Asp	rs777531305	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793211C>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ala173Gly	rs777531305	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793211C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser174Pro	rs1473604680	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793213T>C	TOPMed
PRSS1	P07477	p.Ser174Phe	rs746669985	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793214C>T	ExAC,gnomAD
PRSS1	P07477	p.Tyr175His	rs756821075	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793216T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Tyr175Asn	rs756821075	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793216T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly177Val	rs1468060476	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793223G>T	TOPMed
PRSS1	P07477	p.Gly177Ter	rs1240508430	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793222G>T	TOPMed
PRSS1	P07477	p.Gly177Ala	rs1468060476	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793223G>C	TOPMed
PRSS1	P07477	p.Gly177Arg	rs1240508430	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793222G>A	TOPMed
PRSS1	P07477	p.Gly177Glu	rs1468060476	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793223G>A	TOPMed
PRSS1	P07477	p.Lys178Asn	rs267601347	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793227G>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys178Arg	rs1239083612	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793226A>G	TOPMed
PRSS1	P07477	p.Ile179Leu	rs1386024325	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793228A>C	TOPMed,gnomAD
PRSS1	P07477	p.Ile179Val	rs1386024325	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793228A>G	TOPMed,gnomAD
PRSS1	P07477	p.Thr180Ile	rs745420768	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793232C>T	ExAC,gnomAD
PRSS1	P07477	p.Ser181Asn	rs201719096	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793235G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser181Gly	rs376907511	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793234A>G	ESP,ExAC,gnomAD
PRSS1	P07477	p.Ser181Asn	RCV000601108	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752518G>A	ClinVar
PRSS1	P07477	p.Asn182Lys	rs1348773645	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793239C>G	TOPMed
PRSS1	P07477	p.Asn182Asp	rs769160661	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793237A>G	ExAC,gnomAD
PRSS1	P07477	p.Met183Lys	rs762123204	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793241T>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Met183Thr	rs762123204	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793241T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Met183Val	rs200070487	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793240A>G	ExAC,gnomAD
PRSS1	P07477	p.Phe184Val	rs1382404555	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793243T>G	TOPMed
PRSS1	P07477	p.Phe184Leu	rs1382404555	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793243T>C	TOPMed
PRSS1	P07477	p.Val186Met	rs1157690064	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793249G>A	TOPMed
PRSS1	P07477	p.Phe188Leu	rs1250731677	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793257C>G	gnomAD
PRSS1	P07477	p.Phe188Tyr	rs1192281478	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793256T>A	TOPMed
PRSS1	P07477	p.Leu189Phe	rs1439241122	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793258C>T	gnomAD
PRSS1	P07477	p.Leu189Pro	rs1478010608	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793259T>C	TOPMed
PRSS1	P07477	p.Gly191Arg	rs752688735	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793264G>A	ExAC,gnomAD
PRSS1	P07477	p.Gly192Ser	rs1185286983	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793267G>A	gnomAD
PRSS1	P07477	p.Lys193Glu	rs1366653442	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793270A>G	gnomAD
PRSS1	P07477	p.Asp194Val	rs1217657614	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793274A>T	TOPMed
PRSS1	P07477	p.Cys196Gly	rs763907908	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793279T>G	ExAC,gnomAD
PRSS1	P07477	p.Gln197Ter	rs757054367	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793282C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln197Ter	RCV000780651	nonsense	-	NC_000007.14:g.142752565C>T	ClinVar
PRSS1	P07477	p.Gly198Asp	rs1201496061	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793586G>A	TOPMed
PRSS1	P07477	p.Gly201Arg	rs1412477456	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793594G>C	TOPMed,gnomAD
PRSS1	P07477	p.Gly201Val	rs1288010897	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793595G>T	TOPMed,gnomAD
PRSS1	P07477	p.Gly202Ala	rs199531292	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793598G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Pro203His	rs1289842951	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793601C>A	gnomAD
PRSS1	P07477	p.Val204Ala	rs758874255	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793604T>C	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val204Met	RCV000705874	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752886G>A	ClinVar
PRSS1	P07477	p.Val205Ile	rs778021503	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793606G>A	ExAC,gnomAD
PRSS1	P07477	p.Val205Asp	rs747422004	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793607T>A	ExAC
PRSS1	P07477	p.Cys206Phe	rs150930992	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793610G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys206Ser	rs150930992	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793610G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Cys206Ser	rs781457756	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793609T>A	ExAC,gnomAD
PRSS1	P07477	p.Asn207Lys	rs146995038	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793614T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly208Ala	rs189270875	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793616G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gly208Arg	rs1282721655	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793615G>A	gnomAD
PRSS1	P07477	p.Gly208Ala	RCV000472464	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752899G>C	ClinVar
PRSS1	P07477	p.Gln209Arg	rs576596527	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793619A>G	1000Genomes,ExAC,gnomAD
PRSS1	P07477	p.Gln209Glu	rs140793689	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793618C>G	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Gln209Ter	rs140793689	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793618C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val213Ile	rs200902389	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793630G>A	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Val213Ile	RCV000239335	missense variant	-	NC_000007.14:g.142752913G>A	ClinVar
PRSS1	P07477	p.Ser215Pro	rs1366495669	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793636T>C	gnomAD
PRSS1	P07477	p.Gly217Ser	rs1310865247	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793642G>A	TOPMed,gnomAD
PRSS1	P07477	p.Asp218Tyr	RCV000592280	missense variant	-	NC_000007.14:g.142752927_142752928delinsCT	ClinVar
PRSS1	P07477	p.Asp218Val	RCV000462723	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752929A>T	ClinVar
PRSS1	P07477	p.Asp218Asn	rs574391339	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793645G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp218Val	rs199878511	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793646A>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp218Tyr	rs574391339	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793645G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Asp218Tyr	RCV000819321	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752927_142752928delinsCT	ClinVar
PRSS1	P07477	p.Cys220Tyr	rs757674146	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793652G>A	ExAC,gnomAD
PRSS1	P07477	p.Cys220Trp	rs1481112469	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793653T>G	gnomAD
PRSS1	P07477	p.Lys223Asn	rs1439609895	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793662G>C	TOPMed,gnomAD
PRSS1	P07477	p.Asn224Lys	rs1184689147	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793665C>A	TOPMed,gnomAD
PRSS1	P07477	p.Asn224Ser	rs1355998219	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793664A>G	TOPMed
PRSS1	P07477	p.Asn224Lys	rs1184689147	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793665C>G	TOPMed,gnomAD
PRSS1	P07477	p.Lys225Asn	rs375871958	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793668G>T	ESP,ExAC,gnomAD
PRSS1	P07477	p.Lys225Arg	RCV000594431	missense variant	-	NC_000007.14:g.142752950A>G	ClinVar
PRSS1	P07477	p.Lys225Arg	rs541223359	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793667A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Lys225Arg	RCV000814171	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752950A>G	ClinVar
PRSS1	P07477	p.Pro226Ser	rs1164573795	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793669C>T	gnomAD
PRSS1	P07477	p.Tyr229His	rs1309672836	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793678T>C	gnomAD
PRSS1	P07477	p.Thr230Ser	rs768590288	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793681A>T	ExAC,gnomAD
PRSS1	P07477	p.Val232Ile	rs1445405636	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793687G>A	TOPMed,gnomAD
PRSS1	P07477	p.Val232Leu	rs1445405636	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793687G>C	TOPMed,gnomAD
PRSS1	P07477	p.Val232Phe	rs1445405636	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793687G>T	TOPMed,gnomAD
PRSS1	P07477	p.Asn234Lys	rs773353079	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793695C>A	ExAC,gnomAD
PRSS1	P07477	p.Lys237Glu	rs150083974	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793702A>G	ExAC,gnomAD
PRSS1	P07477	p.Lys237Asn	rs138362833	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793704A>C	ExAC,gnomAD
PRSS1	P07477	p.Trp238Ter	rs1200820723	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793706G>A	gnomAD
PRSS1	P07477	p.Asn241Tyr	rs141554682	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793714A>T	ExAC,gnomAD
PRSS1	P07477	p.Asn241Asp	rs141554682	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793714A>G	ExAC,gnomAD
PRSS1	P07477	p.Ile243Val	rs1204423444	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793720A>G	gnomAD
PRSS1	P07477	p.Ile243Thr	RCV000633999	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142753004T>C	ClinVar
PRSS1	P07477	p.Ala244Pro	rs762589386	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793723G>C	ExAC,gnomAD
PRSS1	P07477	p.Ala244Val	rs763496896	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793724C>T	ExAC,TOPMed,gnomAD
PRSS1	P07477	p.Ser247Gly	rs757690615	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793732A>G	ExAC,gnomAD
PRSS1	P07477	p.Ser247Ile	rs1479014593	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793733G>T	gnomAD
ABCB1	P08183	p.Asp2Asn	rs1320562631	missense variant	-	NC_000007.14:g.87600181C>T	gnomAD
ABCB1	P08183	p.Gly5Val	rs747238624	missense variant	-	NC_000007.14:g.87600171C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp6His	rs780204251	missense variant	-	NC_000007.14:g.87600169C>G	ExAC,gnomAD
ABCB1	P08183	p.Asp6Tyr	rs780204251	missense variant	-	NC_000007.14:g.87600169C>A	ExAC,gnomAD
ABCB1	P08183	p.Arg7His	rs1429920034	missense variant	-	NC_000007.14:g.87600165C>T	TOPMed
ABCB1	P08183	p.Arg7Cys	rs758755760	missense variant	-	NC_000007.14:g.87600166G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg7Gly	rs758755760	missense variant	-	NC_000007.14:g.87600166G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn8Lys	rs146259092	missense variant	-	NC_000007.14:g.87600161A>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn8Thr	rs1373721748	missense variant	-	NC_000007.14:g.87600162T>G	gnomAD
ABCB1	P08183	p.Gly10Arg	rs1457629148	missense variant	-	NC_000007.14:g.87600157C>T	gnomAD
ABCB1	P08183	p.Gly10Glu	rs1348388210	missense variant	-	NC_000007.14:g.87600156C>T	gnomAD
ABCB1	P08183	p.Lys12Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87600149C>A	NCI-TCGA
ABCB1	P08183	p.Lys12Asn	rs1430496324	missense variant	-	NC_000007.14:g.87600149C>G	gnomAD
ABCB1	P08183	p.Lys12Gln	rs779268249	missense variant	-	NC_000007.14:g.87600151T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys14Asn	rs1390637727	missense variant	-	NC_000007.14:g.87600143C>A	gnomAD
ABCB1	P08183	p.Lys14Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87600145T>C	NCI-TCGA
ABCB1	P08183	p.Phe16Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87600137A>C	NCI-TCGA
ABCB1	P08183	p.Phe17Leu	rs28381804	missense variant	-	NC_000007.14:g.87600136A>G	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe17Ser	rs763540261	missense variant	-	NC_000007.14:g.87600135A>G	ExAC,gnomAD
ABCB1	P08183	p.Phe17Leu	rs760162850	missense variant	-	NC_000007.14:g.87600134A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu19Val	rs41304191	missense variant	-	NC_000007.14:g.87600130G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu19Gln	rs200915526	missense variant	-	NC_000007.14:g.87600129A>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Asn21His	rs9282564	missense variant	-	NC_000007.14:g.87600124T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn21Asp	rs9282564	missense variant	-	NC_000007.14:g.87600124T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn21Tyr	rs9282564	missense variant	-	NC_000007.14:g.87600124T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp26Val	rs754610572	missense variant	-	NC_000007.14:g.87595806T>A	ExAC
ABCB1	P08183	p.Lys27Glu	rs1424498745	missense variant	-	NC_000007.14:g.87595804T>C	TOPMed
ABCB1	P08183	p.Lys27Thr	rs1202446124	missense variant	-	NC_000007.14:g.87595803T>G	gnomAD
ABCB1	P08183	p.Lys28Arg	rs112801674	missense variant	-	NC_000007.14:g.87595800T>C	TOPMed
ABCB1	P08183	p.Lys28Thr	rs112801674	missense variant	-	NC_000007.14:g.87595800T>G	TOPMed
ABCB1	P08183	p.Lys30Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87595793C>A	NCI-TCGA
ABCB1	P08183	p.Pro32Arg	rs1257107888	missense variant	-	NC_000007.14:g.87595788G>C	gnomAD
ABCB1	P08183	p.Pro32Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87595788G>T	NCI-TCGA
ABCB1	P08183	p.Pro32Thr	rs751270575	missense variant	-	NC_000007.14:g.87595789G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr33SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87595784_87595787AGTT>-	NCI-TCGA
ABCB1	P08183	p.Val34Ile	rs533117495	missense variant	-	NC_000007.14:g.87595783C>T	NCI-TCGA,NCI-TCGA Cosmic
ABCB1	P08183	p.Val34Ile	rs533117495	missense variant	-	NC_000007.14:g.87595783C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Ser35Asn	rs934040996	missense variant	-	NC_000007.14:g.87595779C>T	TOPMed,gnomAD
ABCB1	P08183	p.Met39Val	rs201917713	missense variant	-	NC_000007.14:g.87595768T>C	TOPMed
ABCB1	P08183	p.Met39Lys	COSM3784092	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87595767A>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Met39Ile	rs371192766	missense variant	-	NC_000007.14:g.87595766C>T	ESP,ExAC,gnomAD
ABCB1	P08183	p.Arg41His	rs199551851	missense variant	-	NC_000007.14:g.87585676C>T	NCI-TCGA,NCI-TCGA Cosmic
ABCB1	P08183	p.Arg41Leu	COSM6178495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87585676C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Arg41Cys	rs761584848	missense variant	-	NC_000007.14:g.87585677G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg41His	rs199551851	missense variant	-	NC_000007.14:g.87585676C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg41Cys	rs761584848	missense variant	-	NC_000007.14:g.87585677G>A	NCI-TCGA,NCI-TCGA Cosmic
ABCB1	P08183	p.Tyr42Cys	rs201564736	missense variant	-	NC_000007.14:g.87585673T>C	TOPMed
ABCB1	P08183	p.Ser43Ala	rs759680987	missense variant	-	NC_000007.14:g.87585671A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn44His	rs774528779	missense variant	-	NC_000007.14:g.87585668T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn44Asp	rs774528779	missense variant	-	NC_000007.14:g.87585668T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn44Ser	rs1202183	missense variant	-	NC_000007.14:g.87585667T>C	UniProt,dbSNP
ABCB1	P08183	p.Asn44Ser	VAR_055423	missense variant	-	NC_000007.14:g.87585667T>C	UniProt
ABCB1	P08183	p.Asn44Ser	rs1202183	missense variant	-	NC_000007.14:g.87585667T>C	-
ABCB1	P08183	p.Asp47Tyr	rs1250463898	missense variant	-	NC_000007.14:g.87585659C>A	gnomAD
ABCB1	P08183	p.Lys48Asn	rs139583955	missense variant	-	NC_000007.14:g.87585654C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu49Phe	rs192850609	missense variant	-	NC_000007.14:g.87585651C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu49Ser	rs202240722	missense variant	-	NC_000007.14:g.87585652A>G	ExAC,gnomAD
ABCB1	P08183	p.Tyr50Cys	rs537546318	missense variant	-	NC_000007.14:g.87585649T>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met51Thr	rs781755669	missense variant	-	NC_000007.14:g.87585646A>G	ExAC,gnomAD
ABCB1	P08183	p.Gly54Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87585638C>T	NCI-TCGA
ABCB1	P08183	p.Thr55Ile	rs1200080064	missense variant	-	NC_000007.14:g.87585634G>A	TOPMed
ABCB1	P08183	p.Leu56Ser	rs1242728976	missense variant	-	NC_000007.14:g.87585631A>G	TOPMed,gnomAD
ABCB1	P08183	p.His61Tyr	rs1435532727	missense variant	-	NC_000007.14:g.87585617G>A	gnomAD
ABCB1	P08183	p.His61Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87585616T>C	NCI-TCGA
ABCB1	P08183	p.Gly62Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87585613C>T	NCI-TCGA
ABCB1	P08183	p.Gly62Arg	COSM485675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87585614C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala63Asp	COSM3883072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87585610G>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala63Val	rs1388112904	missense variant	-	NC_000007.14:g.87585610G>A	gnomAD
ABCB1	P08183	p.Ala63Thr	rs750056009	missense variant	-	NC_000007.14:g.87585611C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu67Phe	rs1169254481	missense variant	-	NC_000007.14:g.87585599G>A	TOPMed
ABCB1	P08183	p.Met68Val	rs865799545	missense variant	-	NC_000007.14:g.87585596T>C	TOPMed,gnomAD
ABCB1	P08183	p.Leu70Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87585589A>G	NCI-TCGA
ABCB1	P08183	p.Met75Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87585573C>T	NCI-TCGA
ABCB1	P08183	p.Asp77Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87585569C>A	NCI-TCGA
ABCB1	P08183	p.Ile78Thr	rs202150907	missense variant	-	NC_000007.14:g.87585565A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile78Asn	rs202150907	missense variant	-	NC_000007.14:g.87585565A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala80Glu	rs9282565	missense variant	-	NC_000007.14:g.87585559G>T	ExAC,gnomAD
ABCB1	P08183	p.Ala82Val	rs1201503261	missense variant	-	NC_000007.14:g.87585553G>A	gnomAD
ABCB1	P08183	p.Gly83GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87585552T>-	NCI-TCGA
ABCB1	P08183	p.Gly83Glu	COSM3641936	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87585550C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Asn84His	rs764061195	missense variant	-	NC_000007.14:g.87585548T>G	ExAC,gnomAD
ABCB1	P08183	p.Glu86Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87585542C>G	NCI-TCGA
ABCB1	P08183	p.Asp87Glu	rs1266957400	missense variant	-	NC_000007.14:g.87585537A>T	TOPMed,gnomAD
ABCB1	P08183	p.Leu88Arg	rs1257387920	missense variant	-	NC_000007.14:g.87585535A>C	gnomAD
ABCB1	P08183	p.Met89Lys	rs35810889	missense variant	-	NC_000007.14:g.87585532A>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met89Thr	rs35810889	missense variant	-	NC_000007.14:g.87585532A>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn91Asp	rs1311363553	missense variant	-	NC_000007.14:g.87585527T>C	TOPMed,gnomAD
ABCB1	P08183	p.Asn91Ser	rs751592416	missense variant	-	NC_000007.14:g.87585526T>C	ExAC,gnomAD
ABCB1	P08183	p.Thr93Ile	rs763019957	missense variant	-	NC_000007.14:g.87585520G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn94Lys	rs528004506	missense variant	-	NC_000007.14:g.87585516A>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg95Ile	COSM1092641	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87585514C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser96Asn	rs1345523838	missense variant	-	NC_000007.14:g.87570223C>T	gnomAD
ABCB1	P08183	p.Asp97His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87570221C>G	NCI-TCGA
ABCB1	P08183	p.Ile98Ser	rs1273859083	missense variant	-	NC_000007.14:g.87570217A>C	gnomAD
ABCB1	P08183	p.Asp100Gly	rs200693386	missense variant	-	NC_000007.14:g.87570211T>C	gnomAD
ABCB1	P08183	p.Thr101Ala	rs1288374568	missense variant	-	NC_000007.14:g.87570209T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Thr101Ala	rs1288374568	missense variant	-	NC_000007.14:g.87570209T>C	gnomAD
ABCB1	P08183	p.Gly102Val	rs763159622	missense variant	-	NC_000007.14:g.87570205C>A	ExAC,gnomAD
ABCB1	P08183	p.Gly102Trp	COSM6178496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87570206C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly102Arg	rs199607036	missense variant	-	NC_000007.14:g.87570206C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly102Arg	rs199607036	missense variant	-	NC_000007.14:g.87570206C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe103Tyr	COSM6178497	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87570202A>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Phe103Leu	VAR_015001	Missense	-	-	UniProt
ABCB1	P08183	p.Phe104Leu	rs750577831	missense variant	-	NC_000007.14:g.87570200A>G	ExAC,gnomAD
ABCB1	P08183	p.Met105Leu	rs765543439	missense variant	-	NC_000007.14:g.87570197T>A	ExAC,gnomAD
ABCB1	P08183	p.Glu108Lys	VAR_018351	Missense	-	-	UniProt
ABCB1	P08183	p.Glu109Lys	rs189559454	missense variant	-	NC_000007.14:g.87570185C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu109Ter	COSM6178498	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87570185C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Asp110Gly	rs201389507	missense variant	-	NC_000007.14:g.87570181T>C	TOPMed,gnomAD
ABCB1	P08183	p.Asp110Asn	rs769142496	missense variant	-	NC_000007.14:g.87570182C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met111Val	rs761202837	missense variant	-	NC_000007.14:g.87570179T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met111Leu	rs761202837	missense variant	-	NC_000007.14:g.87570179T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg113Gly	rs1231090084	missense variant	-	NC_000007.14:g.87570173T>C	gnomAD
ABCB1	P08183	p.Tyr114Phe	rs374713722	missense variant	-	NC_000007.14:g.87566974T>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr114Cys	rs374713722	missense variant	-	NC_000007.14:g.87566974T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr116Cys	rs1366437650	missense variant	-	NC_000007.14:g.87566968T>C	gnomAD
ABCB1	P08183	p.Tyr117His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566966A>G	NCI-TCGA
ABCB1	P08183	p.Ser119Asn	rs1428844378	missense variant	-	NC_000007.14:g.87566959C>T	gnomAD
ABCB1	P08183	p.Gly120Glu	rs201352004	missense variant	-	NC_000007.14:g.87566956C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala123Gly	rs759986853	missense variant	-	NC_000007.14:g.87566947G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala123Val	rs759986853	missense variant	-	NC_000007.14:g.87566947G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val125Leu	rs1310242458	missense variant	-	NC_000007.14:g.87566942C>A	TOPMed,gnomAD
ABCB1	P08183	p.Val125Met	rs1310242458	missense variant	-	NC_000007.14:g.87566942C>T	TOPMed,gnomAD
ABCB1	P08183	p.Val127Gly	rs368578071	missense variant	-	NC_000007.14:g.87566935A>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala128Ser	COSM747724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566933C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Tyr130His	rs748883796	missense variant	-	NC_000007.14:g.87566927A>G	ExAC,gnomAD
ABCB1	P08183	p.Ile131Val	rs1185744873	missense variant	-	NC_000007.14:g.87566924T>C	gnomAD
ABCB1	P08183	p.Gln132Ter	rs769545558	stop gained	-	NC_000007.14:g.87566921G>A	ExAC,gnomAD
ABCB1	P08183	p.Ser134Leu	COSM3641934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566914G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Phe135Leu	COSM3883071	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566910A>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Trp136Ter	rs1248102071	stop gained	-	NC_000007.14:g.87566907C>T	gnomAD
ABCB1	P08183	p.Cys137Ter	rs1410820663	stop gained	-	NC_000007.14:g.87566904G>T	TOPMed,gnomAD
ABCB1	P08183	p.Cys137Phe	rs1432167827	missense variant	-	NC_000007.14:g.87566905C>A	TOPMed
ABCB1	P08183	p.Gly141Val	rs754901302	missense variant	-	NC_000007.14:g.87566893C>A	ExAC,gnomAD
ABCB1	P08183	p.Gly141Ter	COSM485674	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87566894C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Arg142Lys	rs557338866	missense variant	-	NC_000007.14:g.87566890C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Gln143Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566888G>T	NCI-TCGA
ABCB1	P08183	p.Gln143Arg	rs1046070012	missense variant	-	NC_000007.14:g.87566887T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ile144Val	rs1459866086	missense variant	-	NC_000007.14:g.87566885T>C	gnomAD
ABCB1	P08183	p.Ile144Thr	rs61607171	missense variant	-	NC_000007.14:g.87566884A>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile144Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566883T>C	NCI-TCGA
ABCB1	P08183	p.His145Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566882G>T	NCI-TCGA
ABCB1	P08183	p.His145Arg	rs1295245429	missense variant	-	NC_000007.14:g.87566881T>C	TOPMed,gnomAD
ABCB1	P08183	p.His145Tyr	rs757337057	missense variant	-	NC_000007.14:g.87566882G>A	ExAC,gnomAD
ABCB1	P08183	p.Lys146Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566877T>G	NCI-TCGA
ABCB1	P08183	p.Arg148Thr	COSM747725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566872C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Phe151Leu	rs754111890	missense variant	-	NC_000007.14:g.87566864A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe151Ile	rs754111890	missense variant	-	NC_000007.14:g.87566864A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe152Val	rs199924747	missense variant	-	NC_000007.14:g.87566861A>C	TOPMed
ABCB1	P08183	p.His153Tyr	COSM3778637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566858G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala154Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566854G>T	NCI-TCGA
ABCB1	P08183	p.Ala154Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566855C>A	NCI-TCGA
ABCB1	P08183	p.Ile155Val	rs149518139	missense variant	-	NC_000007.14:g.87566852T>C	ESP
ABCB1	P08183	p.Met156Ile	rs753065601	missense variant	-	NC_000007.14:g.87566847C>T	ExAC,gnomAD
ABCB1	P08183	p.Met156Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566848A>T	NCI-TCGA
ABCB1	P08183	p.Met156Leu	rs756530200	missense variant	-	NC_000007.14:g.87566849T>A	ExAC,TOPMed
ABCB1	P08183	p.Arg157Leu	rs202002337	missense variant	-	NC_000007.14:g.87566845C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg157Ter	rs1363838319	stop gained	-	NC_000007.14:g.87566846G>A	gnomAD
ABCB1	P08183	p.Arg157Gln	rs202002337	missense variant	-	NC_000007.14:g.87566845C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gln158His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566841C>A	NCI-TCGA
ABCB1	P08183	p.Ile160Met	rs200823786	missense variant	-	NC_000007.14:g.87566835T>C	TOPMed
ABCB1	P08183	p.Gly161Cys	rs1183122171	missense variant	-	NC_000007.14:g.87566834C>A	TOPMed
ABCB1	P08183	p.Gly161Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566833C>T	NCI-TCGA
ABCB1	P08183	p.Trp162Cys	rs1184150141	missense variant	-	NC_000007.14:g.87566829C>A	TOPMed,gnomAD
ABCB1	P08183	p.Phe163Val	rs765901566	missense variant	-	NC_000007.14:g.87566828A>C	ExAC,gnomAD
ABCB1	P08183	p.Val165Met	COSM747726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566822C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Val165Gly	rs762489515	missense variant	-	NC_000007.14:g.87566821A>C	ExAC,gnomAD
ABCB1	P08183	p.His166Tyr	rs199509670	missense variant	-	NC_000007.14:g.87566819G>A	TOPMed,gnomAD
ABCB1	P08183	p.Asp167Asn	rs769387998	missense variant	-	NC_000007.14:g.87566816C>T	ExAC,gnomAD
ABCB1	P08183	p.Val168Ile	rs61122623	missense variant	-	NC_000007.14:g.87566813C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val168Ala	rs776417319	missense variant	-	NC_000007.14:g.87566812A>G	ExAC,gnomAD
ABCB1	P08183	p.Thr173Pro	rs200753045	missense variant	-	NC_000007.14:g.87566798T>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg174Gln	rs201280497	missense variant	-	NC_000007.14:g.87566794C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg174Ter	rs199808236	stop gained	-	NC_000007.14:g.87566795G>A	ExAC,gnomAD
ABCB1	P08183	p.Arg174Leu	rs201280497	missense variant	-	NC_000007.14:g.87566794C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu175Phe	rs375817253	missense variant	-	NC_000007.14:g.87566792G>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Thr176Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566789T>A	NCI-TCGA
ABCB1	P08183	p.Val179Ala	rs201302394	missense variant	-	NC_000007.14:g.87566236A>G	1000Genomes
ABCB1	P08183	p.Lys181Met	rs760430324	missense variant	-	NC_000007.14:g.87566230T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys181Arg	rs760430324	missense variant	-	NC_000007.14:g.87566230T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile182Thr	rs1188362511	missense variant	-	NC_000007.14:g.87566227A>G	TOPMed
ABCB1	P08183	p.Asn183Ser	rs60419673	missense variant	-	NC_000007.14:g.87566224T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn183Ser	rs60419673	missense variant	-	NC_000007.14:g.87566224T>C	NCI-TCGA,NCI-TCGA Cosmic
ABCB1	P08183	p.Gly185Val	rs1128501	missense variant	-	NC_000007.14:g.87566218C>A	UniProt,dbSNP
ABCB1	P08183	p.Gly185Val	VAR_015002	missense variant	-	NC_000007.14:g.87566218C>A	UniProt
ABCB1	P08183	p.Gly185Val	rs1128501	missense variant	-	NC_000007.14:g.87566218C>A	-
ABCB1	P08183	p.Gly185Val	RCV000014697	missense variant	-	NC_000007.14:g.87566218C>A	ClinVar
ABCB1	P08183	p.Ile186Thr	rs1455450939	missense variant	-	NC_000007.14:g.87566215A>G	TOPMed
ABCB1	P08183	p.Gly187Ser	rs745836011	missense variant	-	NC_000007.14:g.87566213C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp188Glu	rs143782625	missense variant	-	NC_000007.14:g.87566208G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp188Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566209T>C	NCI-TCGA
ABCB1	P08183	p.Ile190Thr	rs1381284304	missense variant	-	NC_000007.14:g.87566203A>G	gnomAD
ABCB1	P08183	p.Ile190Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566202A>C	NCI-TCGA
ABCB1	P08183	p.Met192Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566197A>G	NCI-TCGA
ABCB1	P08183	p.Phe193Leu	rs770008344	missense variant	-	NC_000007.14:g.87566193G>T	ExAC,gnomAD
ABCB1	P08183	p.Phe193Leu	rs770008344	missense variant	-	NC_000007.14:g.87566193G>C	NCI-TCGA,NCI-TCGA Cosmic
ABCB1	P08183	p.Phe193Leu	rs770008344	missense variant	-	NC_000007.14:g.87566193G>C	ExAC,gnomAD
ABCB1	P08183	p.Met197Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566181C>A	NCI-TCGA
ABCB1	P08183	p.Met197Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566182A>T	NCI-TCGA
ABCB1	P08183	p.Met197Thr	rs1469108355	missense variant	-	NC_000007.14:g.87566182A>G	gnomAD
ABCB1	P08183	p.Thr199Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566176G>T	NCI-TCGA
ABCB1	P08183	p.Thr199Ala	rs748390713	missense variant	-	NC_000007.14:g.87566177T>C	ExAC,TOPMed
ABCB1	P08183	p.Thr199Ile	rs1403432068	missense variant	-	NC_000007.14:g.87566176G>A	gnomAD
ABCB1	P08183	p.Phe200Leu	rs781337433	missense variant	-	NC_000007.14:g.87566174A>G	ExAC,gnomAD
ABCB1	P08183	p.Phe201SerPheSerTerUnk	COSM1452594	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87566170A>-	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile205Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566157T>C	NCI-TCGA
ABCB1	P08183	p.Ile205Val	rs755346039	missense variant	-	NC_000007.14:g.87566159T>C	ExAC,gnomAD
ABCB1	P08183	p.Val206Ala	rs1331678185	missense variant	-	NC_000007.14:g.87566155A>G	TOPMed
ABCB1	P08183	p.Arg210Cys	rs371995997	missense variant	-	NC_000007.14:g.87566144G>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys213Glu	rs780427778	missense variant	-	NC_000007.14:g.87566135T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr215ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87566129T>-	NCI-TCGA
ABCB1	P08183	p.Leu216Phe	COSM3641931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566126G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala220Thr	rs758834776	missense variant	-	NC_000007.14:g.87566114C>T	ExAC,gnomAD
ABCB1	P08183	p.Ile221Met	rs201669414	missense variant	-	NC_000007.14:g.87566109G>C	TOPMed
ABCB1	P08183	p.Ser222Gly	rs138302009	missense variant	-	NC_000007.14:g.87566108T>C	ESP,TOPMed
ABCB1	P08183	p.Pro223Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566105G>T	NCI-TCGA
ABCB1	P08183	p.Pro223Leu	COSM3924164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566104G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala229Thr	rs1183298571	missense variant	-	NC_000007.14:g.87566087C>T	TOPMed,gnomAD
ABCB1	P08183	p.Ala229Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566086G>T	NCI-TCGA
ABCB1	P08183	p.Ala229Pro	rs1183298571	missense variant	-	NC_000007.14:g.87566087C>G	TOPMed,gnomAD
ABCB1	P08183	p.Ala230Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566084C>T	NCI-TCGA
ABCB1	P08183	p.Ala230Val	COSM1452592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566083G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala230Ser	rs750938138	missense variant	-	NC_000007.14:g.87566084C>A	ExAC,gnomAD
ABCB1	P08183	p.Ala230Gly	rs200191280	missense variant	-	NC_000007.14:g.87566083G>C	ExAC,gnomAD
ABCB1	P08183	p.Val231Leu	rs201649109	missense variant	-	NC_000007.14:g.87566081C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Trp232Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87566077C>A	NCI-TCGA
ABCB1	P08183	p.Trp232Cys	COSM6110881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87566076C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser237Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87561380G>T	NCI-TCGA
ABCB1	P08183	p.Ser237Pro	rs747181596	missense variant	-	NC_000007.14:g.87561381A>G	ExAC,gnomAD
ABCB1	P08183	p.Asp241Gly	rs370448121	missense variant	-	NC_000007.14:g.87561368T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys242Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87561365T>A	NCI-TCGA
ABCB1	P08183	p.Leu245Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87561356A>G	NCI-TCGA
ABCB1	P08183	p.Ala246Val	rs201722148	missense variant	-	NC_000007.14:g.87561353G>A	NCI-TCGA
ABCB1	P08183	p.Ala246Val	rs201722148	missense variant	-	NC_000007.14:g.87561353G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr247Cys	rs1214452761	missense variant	-	NC_000007.14:g.87561350T>C	gnomAD
ABCB1	P08183	p.Tyr247His	rs1242341613	missense variant	-	NC_000007.14:g.87561351A>G	gnomAD
ABCB1	P08183	p.Ala248Thr	rs1444836423	missense variant	-	NC_000007.14:g.87561348C>T	gnomAD
ABCB1	P08183	p.Lys249Glu	COSM747728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87561345T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala250LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87561342C>-	NCI-TCGA
ABCB1	P08183	p.Ala250Asp	COSM6178499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87561341G>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala250Pro	rs755708192	missense variant	-	NC_000007.14:g.87561342C>G	ExAC,gnomAD
ABCB1	P08183	p.Ala252Glu	COSM6110882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87561335G>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu255Gln	COSM747729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87561327C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu255Asp	rs1313299337	missense variant	-	NC_000007.14:g.87561325T>G	gnomAD
ABCB1	P08183	p.Glu256Lys	rs1216695241	missense variant	-	NC_000007.14:g.87561324C>T	gnomAD
ABCB1	P08183	p.Glu256Gly	rs1362919289	missense variant	-	NC_000007.14:g.87561323T>C	gnomAD
ABCB1	P08183	p.Glu256Ala	rs1362919289	missense variant	-	NC_000007.14:g.87561323T>G	gnomAD
ABCB1	P08183	p.Ile261Val	rs36008564	missense variant	-	NC_000007.14:g.87561309T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile261Val	rs36008564	missense variant	-	NC_000007.14:g.87561309T>C	UniProt,dbSNP
ABCB1	P08183	p.Ile261Val	VAR_055425	missense variant	-	NC_000007.14:g.87561309T>C	UniProt
ABCB1	P08183	p.Ile261Asn	rs1425167192	missense variant	-	NC_000007.14:g.87561308A>T	gnomAD
ABCB1	P08183	p.Arg262Lys	rs202177823	missense variant	-	NC_000007.14:g.87561305C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Arg262Gly	rs1184324936	missense variant	-	NC_000007.14:g.87561306T>C	TOPMed
ABCB1	P08183	p.Thr263Ile	rs1430155491	missense variant	-	NC_000007.14:g.87561302G>A	gnomAD
ABCB1	P08183	p.Ala266Val	rs773259441	missense variant	-	NC_000007.14:g.87561293G>A	ExAC,gnomAD
ABCB1	P08183	p.Gly269Arg	COSM6178500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87561285C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly269Glu	COSM1092635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87561284C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Lys272Thr	rs764072893	missense variant	-	NC_000007.14:g.87561275T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu273Ter	rs1222604496	stop gained	-	NC_000007.14:g.87561273C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu273Ter	rs1222604496	stop gained	-	NC_000007.14:g.87561273C>A	gnomAD
ABCB1	P08183	p.Glu273Gly	rs1162562260	missense variant	-	NC_000007.14:g.87561272T>C	TOPMed
ABCB1	P08183	p.Leu274Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87561270G>T	NCI-TCGA
ABCB1	P08183	p.Glu275Ter	rs202097303	stop gained	-	NC_000007.14:g.87561267C>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Arg276Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87561263C>A	NCI-TCGA
ABCB1	P08183	p.Tyr277Ter	rs1297328873	stop gained	-	NC_000007.14:g.87553929G>T	gnomAD
ABCB1	P08183	p.Asn278Ser	rs767592386	missense variant	-	NC_000007.14:g.87553927T>C	ExAC
ABCB1	P08183	p.Lys279Thr	COSM1092633	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553924T>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu282Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87553916C>T	NCI-TCGA
ABCB1	P08183	p.Glu283Lys	COSM3641930	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553913C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Lys285Glu	rs200148661	missense variant	-	NC_000007.14:g.87553907T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg286Ile	COSM173298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553903C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile287Val	rs774696910	missense variant	-	NC_000007.14:g.87553901T>C	ExAC,gnomAD
ABCB1	P08183	p.Gly288Trp	COSM747730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553898C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly288Glu	COSM3641929	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553897C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile289Val	rs1176774424	missense variant	-	NC_000007.14:g.87553895T>C	gnomAD
ABCB1	P08183	p.Ala292Val	rs771196019	missense variant	-	NC_000007.14:g.87553885G>A	ExAC,gnomAD
ABCB1	P08183	p.Thr294Pro	rs763416526	missense variant	-	NC_000007.14:g.87553880T>G	ExAC,gnomAD
ABCB1	P08183	p.Thr294Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87553880T>C	NCI-TCGA
ABCB1	P08183	p.Ser298Phe	rs770289036	missense variant	-	NC_000007.14:g.87553867G>A	ExAC,gnomAD
ABCB1	P08183	p.Ser298Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87553867G>T	NCI-TCGA
ABCB1	P08183	p.Ser298Cys	COSM747731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553867G>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile299Val	rs780790071	missense variant	-	NC_000007.14:g.87553865T>C	ExAC,gnomAD
ABCB1	P08183	p.Gly300Asp	rs768339438	missense variant	-	NC_000007.14:g.87553861C>T	ExAC,gnomAD
ABCB1	P08183	p.Ala302Gly	rs1203320017	missense variant	-	NC_000007.14:g.87553855G>C	gnomAD
ABCB1	P08183	p.Phe303Leu	rs746654940	missense variant	-	NC_000007.14:g.87553853A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu305Pro	rs1262510614	missense variant	-	NC_000007.14:g.87553846A>G	TOPMed,gnomAD
ABCB1	P08183	p.Tyr307His	rs779792612	missense variant	-	NC_000007.14:g.87553841A>G	ExAC,gnomAD
ABCB1	P08183	p.Tyr307Phe	rs200676994	missense variant	-	NC_000007.14:g.87553840T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala311Thr	rs1237664337	missense variant	-	NC_000007.14:g.87553829C>T	TOPMed,gnomAD
ABCB1	P08183	p.Ala311Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87553828G>T	NCI-TCGA
ABCB1	P08183	p.Ala313Pro	rs1174023694	missense variant	-	NC_000007.14:g.87553823C>G	TOPMed
ABCB1	P08183	p.Trp315Ter	rs1189919755	stop gained	-	NC_000007.14:g.87553816C>T	gnomAD
ABCB1	P08183	p.Trp315Cys	rs778606266	missense variant	-	NC_000007.14:g.87553815C>A	ExAC,gnomAD
ABCB1	P08183	p.Tyr316Cys	rs934392121	missense variant	-	NC_000007.14:g.87553813T>C	TOPMed
ABCB1	P08183	p.Thr318Ala	COSM3883068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553808T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Thr319Asn	rs753790377	missense variant	-	NC_000007.14:g.87553804G>T	ExAC,gnomAD
ABCB1	P08183	p.Thr319Ala	rs1045385582	missense variant	-	NC_000007.14:g.87553805T>C	TOPMed,gnomAD
ABCB1	P08183	p.Leu320Ser	rs1363711355	missense variant	-	NC_000007.14:g.87553801A>G	gnomAD
ABCB1	P08183	p.Leu320Val	rs201444664	missense variant	-	NC_000007.14:g.87553802A>C	gnomAD
ABCB1	P08183	p.Val321Ala	rs1392678819	missense variant	-	NC_000007.14:g.87553798A>G	TOPMed
ABCB1	P08183	p.Val321Ile	rs767576038	missense variant	-	NC_000007.14:g.87553799C>T	ExAC,gnomAD
ABCB1	P08183	p.Leu322Pro	COSM3929233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553795A>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu322Phe	rs573094394	missense variant	-	NC_000007.14:g.87553796G>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu325Gly	COSM485672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553786T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Tyr326Cys	rs1330170800	missense variant	-	NC_000007.14:g.87553783T>C	TOPMed
ABCB1	P08183	p.Val331Leu	COSM1092630	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87553769C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu332Arg	rs766673892	missense variant	-	NC_000007.14:g.87553765A>C	ExAC
ABCB1	P08183	p.Ser337Tyr	rs1354050546	missense variant	-	NC_000007.14:g.87550828G>T	gnomAD
ABCB1	P08183	p.Val338Leu	rs773413194	missense variant	-	NC_000007.14:g.87550826C>A	ExAC,gnomAD
ABCB1	P08183	p.Ala342Thr	rs1368324209	missense variant	-	NC_000007.14:g.87550814C>T	TOPMed
ABCB1	P08183	p.Val345Ala	rs761114696	missense variant	-	NC_000007.14:g.87550804A>G	ExAC,gnomAD
ABCB1	P08183	p.Gly346Arg	COSM3924163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550802C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala348Thr	rs771498736	missense variant	-	NC_000007.14:g.87550796C>T	ExAC
ABCB1	P08183	p.Ile352Thr	rs770682446	missense variant	-	NC_000007.14:g.87550783A>G	ExAC,gnomAD
ABCB1	P08183	p.Ala354Thr	rs200966236	missense variant	-	NC_000007.14:g.87550778C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala356Ser	rs777570345	missense variant	-	NC_000007.14:g.87550772C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala356Glu	rs1168879904	missense variant	-	NC_000007.14:g.87550771G>T	gnomAD
ABCB1	P08183	p.Ala356Thr	rs777570345	missense variant	-	NC_000007.14:g.87550772C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala358Gly	rs1421770056	missense variant	-	NC_000007.14:g.87550765G>C	gnomAD
ABCB1	P08183	p.Arg359Lys	rs1201676452	missense variant	-	NC_000007.14:g.87550762C>T	gnomAD
ABCB1	P08183	p.Gly360Ala	rs199886416	missense variant	-	NC_000007.14:g.87550759C>G	TOPMed,gnomAD
ABCB1	P08183	p.Ala361Thr	rs1308529308	missense variant	-	NC_000007.14:g.87550757C>T	gnomAD
ABCB1	P08183	p.Ala361Val	rs201484093	missense variant	-	NC_000007.14:g.87550756G>A	gnomAD
ABCB1	P08183	p.Glu364Asp	COSM278523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550746T>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile365Asn	rs1269483312	missense variant	-	NC_000007.14:g.87550744A>T	gnomAD
ABCB1	P08183	p.Phe366Leu	rs200671728	missense variant	-	NC_000007.14:g.87550740G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys367Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87550737C>A	NCI-TCGA
ABCB1	P08183	p.Ile369Val	rs199766539	missense variant	-	NC_000007.14:g.87550733T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp370His	COSM1313361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550730C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Asn371Lys	rs757574551	missense variant	-	NC_000007.14:g.87550725A>T	ExAC,gnomAD
ABCB1	P08183	p.Asn371Tyr	rs765605694	missense variant	-	NC_000007.14:g.87550727T>A	ExAC,TOPMed
ABCB1	P08183	p.Pro373Ala	rs143333791	missense variant	-	NC_000007.14:g.87550575G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser374Asn	rs199578136	missense variant	-	NC_000007.14:g.87550571C>T	ExAC,gnomAD
ABCB1	P08183	p.Ser377Asn	rs1453587307	missense variant	-	NC_000007.14:g.87550562C>T	gnomAD
ABCB1	P08183	p.Ser377Gly	rs754128242	missense variant	-	NC_000007.14:g.87550563T>C	ExAC,gnomAD
ABCB1	P08183	p.Tyr378Cys	rs1394100410	missense variant	-	NC_000007.14:g.87550559T>C	TOPMed
ABCB1	P08183	p.Ser379Ter	COSM6110884	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87550556G>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser379Leu	rs762322710	missense variant	-	NC_000007.14:g.87550556G>A	ExAC,gnomAD
ABCB1	P08183	p.Ser381Arg	rs753217589	missense variant	-	NC_000007.14:g.87550549A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly382Arg	rs1356023286	missense variant	-	NC_000007.14:g.87550548C>T	TOPMed
ABCB1	P08183	p.Gly382Glu	rs1410043164	missense variant	-	NC_000007.14:g.87550547C>T	gnomAD
ABCB1	P08183	p.His383Asn	rs767962530	missense variant	-	NC_000007.14:g.87550545G>T	ExAC,gnomAD
ABCB1	P08183	p.His383Tyr	rs767962530	missense variant	-	NC_000007.14:g.87550545G>A	ExAC,gnomAD
ABCB1	P08183	p.Asn387Asp	rs751032232	missense variant	-	NC_000007.14:g.87550533T>C	ExAC,gnomAD
ABCB1	P08183	p.Ile388Ser	rs149196148	missense variant	-	NC_000007.14:g.87550529A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly390Ala	COSM3412443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550523C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly390Glu	COSM3641927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550523C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu393Lys	rs201346512	missense variant	-	NC_000007.14:g.87550515C>T	ExAC,gnomAD
ABCB1	P08183	p.Glu393Ala	rs200199237	missense variant	-	NC_000007.14:g.87550514T>G	ExAC,gnomAD
ABCB1	P08183	p.Phe394Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87550510G>T	NCI-TCGA
ABCB1	P08183	p.Arg395Lys	COSM3641926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550508C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Arg395Gly	rs1285534379	missense variant	-	NC_000007.14:g.87550509T>C	gnomAD
ABCB1	P08183	p.Val397Ile	rs761558156	missense variant	-	NC_000007.14:g.87550503C>T	ExAC,gnomAD
ABCB1	P08183	p.His398Leu	rs144933300	missense variant	-	NC_000007.14:g.87550499T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe399Ser	rs1247179537	missense variant	-	NC_000007.14:g.87550496A>G	gnomAD
ABCB1	P08183	p.Ser400Asn	RCV000174262	missense variant	-	NC_000007.14:g.87550493C>T	ClinVar
ABCB1	P08183	p.Ser400Ile	rs2229109	missense variant	-	NC_000007.14:g.87550493C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser400Asn	rs2229109	missense variant	-	NC_000007.14:g.87550493C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser403Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87550484G>C	NCI-TCGA
ABCB1	P08183	p.Ser403Tyr	rs746946995	missense variant	-	NC_000007.14:g.87550484G>T	ExAC,gnomAD
ABCB1	P08183	p.Arg404Gln	rs201352027	missense variant	-	NC_000007.14:g.87550481C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg404Ter	COSM5408179	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87550482G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu406Ter	COSM3431822	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87550476C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu406Lys	rs200870777	missense variant	-	NC_000007.14:g.87550476C>T	ExAC,gnomAD
ABCB1	P08183	p.Val407Phe	rs140214314	missense variant	-	NC_000007.14:g.87550473C>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val407Gly	rs777898226	missense variant	-	NC_000007.14:g.87550472A>C	ExAC,gnomAD
ABCB1	P08183	p.Val407Leu	rs140214314	missense variant	-	NC_000007.14:g.87550473C>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile409Asn	rs1419793187	missense variant	-	NC_000007.14:g.87550295A>T	gnomAD
ABCB1	P08183	p.Gly412Ser	rs1476587846	missense variant	-	NC_000007.14:g.87550287C>T	gnomAD
ABCB1	P08183	p.Lys416Asn	rs749429338	missense variant	-	NC_000007.14:g.87550273C>G	ExAC,gnomAD
ABCB1	P08183	p.Lys416Arg	rs201491802	missense variant	-	NC_000007.14:g.87550274T>C	gnomAD
ABCB1	P08183	p.Val417Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87550271A>T	NCI-TCGA
ABCB1	P08183	p.Val417Met	rs1364926780	missense variant	-	NC_000007.14:g.87550272C>T	TOPMed
ABCB1	P08183	p.Thr422Met	rs773368293	missense variant	-	NC_000007.14:g.87550256G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val423Leu	rs967941491	missense variant	-	NC_000007.14:g.87550254C>A	TOPMed
ABCB1	P08183	p.Ala424Thr	rs913766377	missense variant	-	NC_000007.14:g.87550251C>T	TOPMed
ABCB1	P08183	p.Gly427Glu	rs1216856095	missense variant	-	NC_000007.14:g.87550241C>T	gnomAD
ABCB1	P08183	p.Asn428Ser	rs952222278	missense variant	-	NC_000007.14:g.87550238T>C	gnomAD
ABCB1	P08183	p.Cys431Tyr	COSM1452589	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550229C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Cys431Trp	rs201462032	missense variant	-	NC_000007.14:g.87550228A>C	ExAC,gnomAD
ABCB1	P08183	p.Gly432Arg	COSM6110886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550227C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Lys433Glu	rs201678613	missense variant	-	NC_000007.14:g.87550224T>C	ExAC,gnomAD
ABCB1	P08183	p.Ser434Ile	rs747479750	missense variant	-	NC_000007.14:g.87550220C>A	ExAC
ABCB1	P08183	p.Thr436Ile	rs1291504646	missense variant	-	NC_000007.14:g.87550214G>A	gnomAD
ABCB1	P08183	p.Val437Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87550211A>G	NCI-TCGA
ABCB1	P08183	p.Gln438Ter	COSM3641924	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87550209G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu439Pro	rs749859568	missense variant	-	NC_000007.14:g.87550205A>G	ExAC,gnomAD
ABCB1	P08183	p.Met440Ile	rs756800740	missense variant	-	NC_000007.14:g.87550201C>T	ExAC,gnomAD
ABCB1	P08183	p.Met440Val	rs764807184	missense variant	-	NC_000007.14:g.87550203T>C	ExAC,gnomAD
ABCB1	P08183	p.Gln441Arg	COSM3778636	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550199T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu443Phe	rs201725784	missense variant	-	NC_000007.14:g.87550194G>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr447Lys	rs1469116728	missense variant	-	NC_000007.14:g.87550181G>T	TOPMed,gnomAD
ABCB1	P08183	p.Glu448Lys	rs139611979	missense variant	-	NC_000007.14:g.87550179C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly449Arg	COSM3641923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550176C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Met450Thr	rs201987648	missense variant	-	NC_000007.14:g.87550172A>G	TOPMed,gnomAD
ABCB1	P08183	p.Met450Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87550171C>A	NCI-TCGA
ABCB1	P08183	p.Met450Leu	rs1223199758	missense variant	-	NC_000007.14:g.87550173T>A	gnomAD
ABCB1	P08183	p.Met450Arg	rs201987648	missense variant	-	NC_000007.14:g.87550172A>C	TOPMed,gnomAD
ABCB1	P08183	p.Ser452Gly	rs1313046379	missense variant	-	NC_000007.14:g.87550051T>C	gnomAD
ABCB1	P08183	p.Asp454Glu	rs202187982	missense variant	-	NC_000007.14:g.87550043A>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp454Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87550045C>T	NCI-TCGA
ABCB1	P08183	p.Gly455Glu	rs752505100	missense variant	-	NC_000007.14:g.87550041C>T	ExAC,gnomAD
ABCB1	P08183	p.Gln456Glu	rs1475629891	missense variant	-	NC_000007.14:g.87550039G>C	TOPMed
ABCB1	P08183	p.Gln456Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87550039G>T	NCI-TCGA
ABCB1	P08183	p.Gln456Ter	COSM3883066	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87550039G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Gln456His	COSM1092625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550037C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Asp457Gly	rs767429416	missense variant	-	NC_000007.14:g.87550035T>C	ExAC,gnomAD
ABCB1	P08183	p.Asp457Asn	rs1181024146	missense variant	-	NC_000007.14:g.87550036C>T	TOPMed
ABCB1	P08183	p.Ile461Val	rs1360458780	missense variant	-	NC_000007.14:g.87550024T>C	gnomAD
ABCB1	P08183	p.Ile461Thr	rs751575002	missense variant	-	NC_000007.14:g.87550023A>G	ExAC,gnomAD
ABCB1	P08183	p.Asn462Lys	rs761999329	missense variant	-	NC_000007.14:g.87550019A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val463Leu	rs559003378	missense variant	-	NC_000007.14:g.87550018C>A	1000Genomes,ExAC
ABCB1	P08183	p.Arg464Ser	rs201178758	missense variant	-	NC_000007.14:g.87550013C>G	ExAC,gnomAD
ABCB1	P08183	p.Arg464Gly	rs768822271	missense variant	-	NC_000007.14:g.87550015T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg464Met	rs760890850	missense variant	-	NC_000007.14:g.87550014C>A	ExAC,gnomAD
ABCB1	P08183	p.Arg467Trp	rs1387356833	missense variant	-	NC_000007.14:g.87550006G>A	TOPMed
ABCB1	P08183	p.Arg467Gln	rs772482084	missense variant	-	NC_000007.14:g.87550005C>T	ExAC,gnomAD
ABCB1	P08183	p.Glu468Lys	COSM3641922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87550003C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile469Val	rs1187188802	missense variant	-	NC_000007.14:g.87550000T>C	gnomAD
ABCB1	P08183	p.Ile470Thr	rs1455168926	missense variant	-	NC_000007.14:g.87549996A>G	TOPMed
ABCB1	P08183	p.Gly471Cys	rs1488572511	missense variant	-	NC_000007.14:g.87549994C>A	gnomAD
ABCB1	P08183	p.Val472Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549991C>T	NCI-TCGA
ABCB1	P08183	p.Val473Met	rs200183659	missense variant	-	NC_000007.14:g.87549988C>T	ExAC,gnomAD
ABCB1	P08183	p.Val473Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549988C>G	NCI-TCGA
ABCB1	P08183	p.Val473Leu	rs200183659	missense variant	-	NC_000007.14:g.87549988C>A	ExAC,gnomAD
ABCB1	P08183	p.Gln475Lys	COSM3883065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87549982G>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu476Asp	rs1389565545	missense variant	-	NC_000007.14:g.87549977T>G	gnomAD
ABCB1	P08183	p.Pro477Thr	rs779516199	missense variant	-	NC_000007.14:g.87549976G>T	ExAC,gnomAD
ABCB1	P08183	p.Phe480Leu	rs1345375955	missense variant	-	NC_000007.14:g.87549967A>G	TOPMed
ABCB1	P08183	p.Ala481Asp	rs1361374723	missense variant	-	NC_000007.14:g.87549963G>T	gnomAD
ABCB1	P08183	p.Thr482Ile	rs199720786	missense variant	-	NC_000007.14:g.87549960G>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Thr483Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549957G>A	NCI-TCGA
ABCB1	P08183	p.Ile488Val	rs1338355304	missense variant	-	NC_000007.14:g.87549943T>C	gnomAD
ABCB1	P08183	p.Arg489Cys	rs142600685	missense variant	-	NC_000007.14:g.87549940G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg489Leu	rs750696034	missense variant	-	NC_000007.14:g.87549939C>A	ExAC,gnomAD
ABCB1	P08183	p.Arg489His	rs750696034	missense variant	-	NC_000007.14:g.87549939C>T	ExAC,gnomAD
ABCB1	P08183	p.Tyr490Cys	rs781123430	missense variant	-	NC_000007.14:g.87549936T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg492Cys	rs754872565	missense variant	-	NC_000007.14:g.87549931G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg492Leu	COSM6110888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87549930C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Arg492His	rs199941458	missense variant	-	NC_000007.14:g.87549930C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn494Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549925T>C	NCI-TCGA
ABCB1	P08183	p.Asn494His	COSM1092622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87549925T>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Val495Ile	rs762825426	missense variant	-	NC_000007.14:g.87549922C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met497Val	rs553667487	missense variant	-	NC_000007.14:g.87549916T>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp498Gly	rs760874215	missense variant	-	NC_000007.14:g.87549912T>C	ExAC,gnomAD
ABCB1	P08183	p.Asp498Tyr	rs1171458375	missense variant	-	NC_000007.14:g.87549913C>A	TOPMed,gnomAD
ABCB1	P08183	p.Ile500Thr	rs201761318	missense variant	-	NC_000007.14:g.87549906A>G	ExAC,gnomAD
ABCB1	P08183	p.Glu501Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549904C>T	NCI-TCGA
ABCB1	P08183	p.Lys502Ter	rs1191361542	stop gained	-	NC_000007.14:g.87549901T>A	gnomAD
ABCB1	P08183	p.Val504Leu	rs772393045	missense variant	-	NC_000007.14:g.87549895C>G	ExAC,gnomAD
ABCB1	P08183	p.Glu506Lys	rs759995973	missense variant	-	NC_000007.14:g.87549889C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala507Gly	rs771429713	missense variant	-	NC_000007.14:g.87549885G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala507Thr	COSM256223	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87549886C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala507Val	rs771429713	missense variant	-	NC_000007.14:g.87549885G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn508Ser	rs535338471	missense variant	-	NC_000007.14:g.87549882T>C	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Ile513Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549868T>A	NCI-TCGA
ABCB1	P08183	p.Met514Val	rs148455513	missense variant	-	NC_000007.14:g.87549865T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met514Ile	COSM1452588	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87549863C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Met514Thr	rs1218688694	missense variant	-	NC_000007.14:g.87549864A>G	gnomAD
ABCB1	P08183	p.His518Arg	COSM1092621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87549852T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.His518Gln	rs1275791615	missense variant	-	NC_000007.14:g.87549851A>T	gnomAD
ABCB1	P08183	p.His518Tyr	rs1468184660	missense variant	-	NC_000007.14:g.87549853G>A	TOPMed
ABCB1	P08183	p.Asp521His	COSM453510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87549512C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Asp521Gly	rs774711495	missense variant	-	NC_000007.14:g.87549511T>C	ExAC,gnomAD
ABCB1	P08183	p.Thr522Ala	rs201159898	missense variant	-	NC_000007.14:g.87549509T>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr522Asn	rs1398389130	missense variant	-	NC_000007.14:g.87549508G>T	gnomAD
ABCB1	P08183	p.Thr522Ser	rs201159898	missense variant	-	NC_000007.14:g.87549509T>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu523Val	rs1324520636	missense variant	-	NC_000007.14:g.87549506G>C	TOPMed
ABCB1	P08183	p.Glu526Asp	rs773925485	missense variant	-	NC_000007.14:g.87549495C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg527Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549493C>T	NCI-TCGA
ABCB1	P08183	p.Ala529Pro	rs769400173	missense variant	-	NC_000007.14:g.87549488C>G	ExAC,gnomAD
ABCB1	P08183	p.Ala529ProPheSerTerUnkUnk	rs745745163	frameshift	-	NC_000007.14:g.87549491_87549492CT>-	NCI-TCGA,NCI-TCGA Cosmic
ABCB1	P08183	p.Leu531Trp	rs1477018410	missense variant	-	NC_000007.14:g.87549481A>C	TOPMed,gnomAD
ABCB1	P08183	p.Leu531Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549480C>G	NCI-TCGA
ABCB1	P08183	p.Ser532Thr	rs1274564250	missense variant	-	NC_000007.14:g.87549478C>G	TOPMed
ABCB1	P08183	p.Ser532Gly	rs768283170	missense variant	-	NC_000007.14:g.87549479T>C	ExAC,gnomAD
ABCB1	P08183	p.Gly534Val	rs1179026893	missense variant	-	NC_000007.14:g.87549472C>A	gnomAD
ABCB1	P08183	p.Gln535Ter	COSM1092620	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87549470G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Gln535His	COSM4904965	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87549468C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Lys536Gln	rs746652079	missense variant	-	NC_000007.14:g.87549467T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg538Ser	rs758194199	missense variant	-	NC_000007.14:g.87549459C>A	ExAC,gnomAD
ABCB1	P08183	p.Ala540Ser	rs201188762	missense variant	-	NC_000007.14:g.87549455C>A	TOPMed,gnomAD
ABCB1	P08183	p.Ala540Thr	rs201188762	missense variant	-	NC_000007.14:g.87549455C>T	TOPMed,gnomAD
ABCB1	P08183	p.Ile541Val	rs1353480925	missense variant	-	NC_000007.14:g.87549452T>C	gnomAD
ABCB1	P08183	p.Ile541Met	rs778869420	missense variant	-	NC_000007.14:g.87549450A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg543Pro	rs1374940464	missense variant	-	NC_000007.14:g.87549445C>G	gnomAD
ABCB1	P08183	p.Arg543His	rs1374940464	missense variant	-	NC_000007.14:g.87549445C>T	gnomAD
ABCB1	P08183	p.Arg543Cys	rs757210054	missense variant	-	NC_000007.14:g.87549446G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala544Val	rs974595753	missense variant	-	NC_000007.14:g.87549442G>A	TOPMed,gnomAD
ABCB1	P08183	p.Ala544Thr	rs202111093	missense variant	-	NC_000007.14:g.87549443C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu545Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549439A>T	NCI-TCGA
ABCB1	P08183	p.Leu545TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87549440G>-	NCI-TCGA
ABCB1	P08183	p.Arg547Cys	rs199852575	missense variant	-	NC_000007.14:g.87549434G>A	ExAC,gnomAD
ABCB1	P08183	p.Arg547His	rs763454753	missense variant	-	NC_000007.14:g.87549433C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro549His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549427G>T	NCI-TCGA
ABCB1	P08183	p.Pro549Thr	rs1018838697	missense variant	-	NC_000007.14:g.87549428G>T	gnomAD
ABCB1	P08183	p.Pro549Ser	rs1018838697	missense variant	-	NC_000007.14:g.87549428G>A	gnomAD
ABCB1	P08183	p.Lys550Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549423C>A	NCI-TCGA
ABCB1	P08183	p.Asp555Ala	rs762410817	missense variant	-	NC_000007.14:g.87549409T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp555Gly	rs762410817	missense variant	-	NC_000007.14:g.87549409T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu556Asp	rs1236320337	missense variant	-	NC_000007.14:g.87549405C>G	gnomAD
ABCB1	P08183	p.Ala557Gly	rs371019082	missense variant	-	NC_000007.14:g.87549403G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr558Met	rs370804452	missense variant	-	NC_000007.14:g.87549400G>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Leu561Phe	rs201641803	missense variant	-	NC_000007.14:g.87549390C>A	ExAC,gnomAD
ABCB1	P08183	p.Asp562Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87549388T>C	NCI-TCGA
ABCB1	P08183	p.Ser565Asn	rs1177169246	missense variant	-	NC_000007.14:g.87549379C>T	gnomAD
ABCB1	P08183	p.Glu566Lys	rs28381902	missense variant	-	NC_000007.14:g.87549377C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala567Thr	rs1355931317	missense variant	-	NC_000007.14:g.87549374C>T	gnomAD
ABCB1	P08183	p.Val571Met	rs755085099	missense variant	-	NC_000007.14:g.87549362C>T	ExAC,gnomAD
ABCB1	P08183	p.Ala572Val	COSM3883062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87549358G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Asp574Val	rs199659428	missense variant	-	NC_000007.14:g.87549352T>A	TOPMed
ABCB1	P08183	p.Asp574Tyr	rs770568187	missense variant	-	NC_000007.14:g.87549353C>A	TOPMed,gnomAD
ABCB1	P08183	p.Asp574Asn	rs770568187	missense variant	-	NC_000007.14:g.87549353C>T	TOPMed,gnomAD
ABCB1	P08183	p.Ala576Pro	rs1423665718	missense variant	-	NC_000007.14:g.87546024C>G	gnomAD
ABCB1	P08183	p.Ala576Gly	rs1169358648	missense variant	-	NC_000007.14:g.87546023G>C	gnomAD
ABCB1	P08183	p.Gly579Cys	rs780182297	missense variant	-	NC_000007.14:g.87546015C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg580Trp	rs200224345	missense variant	-	NC_000007.14:g.87546012G>A	TOPMed,gnomAD
ABCB1	P08183	p.Arg580Pro	rs202017838	missense variant	-	NC_000007.14:g.87546011C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg580Gln	rs202017838	missense variant	-	NC_000007.14:g.87546011C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr581Ala	rs1375846757	missense variant	-	NC_000007.14:g.87546009T>C	TOPMed
ABCB1	P08183	p.Thr581Ser	rs779414215	missense variant	-	NC_000007.14:g.87546008G>C	ExAC,gnomAD
ABCB1	P08183	p.Thr582Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87546006T>C	NCI-TCGA
ABCB1	P08183	p.Ile583Thr	rs1458392780	missense variant	-	NC_000007.14:g.87546002A>G	gnomAD
ABCB1	P08183	p.Ile583Val	rs1200702337	missense variant	-	NC_000007.14:g.87546003T>C	TOPMed,gnomAD
ABCB1	P08183	p.Val584Met	rs1257424474	missense variant	-	NC_000007.14:g.87546000C>T	gnomAD
ABCB1	P08183	p.Ala586Thr	rs757734033	missense variant	-	NC_000007.14:g.87545994C>T	ExAC,gnomAD
ABCB1	P08183	p.Arg588Cys	rs201122883	missense variant	-	NC_000007.14:g.87545988G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser590Phe	rs966775931	missense variant	-	NC_000007.14:g.87545981G>A	TOPMed
ABCB1	P08183	p.Thr591Ala	rs764459400	missense variant	-	NC_000007.14:g.87545979T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg593His	rs56107566	missense variant	-	NC_000007.14:g.87545972C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg593Ser	rs28381914	missense variant	-	NC_000007.14:g.87545973G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg593Cys	rs28381914	missense variant	-	NC_000007.14:g.87545973G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn594Lys	rs1280797442	missense variant	-	NC_000007.14:g.87545968A>T	TOPMed
ABCB1	P08183	p.Ala595Gly	COSM485669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87545966G>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala595Thr	rs767030297	missense variant	-	NC_000007.14:g.87545967C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp596Asn	rs759177745	missense variant	-	NC_000007.14:g.87545964C>T	ExAC,gnomAD
ABCB1	P08183	p.Val597Leu	rs199931362	missense variant	-	NC_000007.14:g.87545961C>G	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val597Ala	COSM1452586	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87545960A>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Val597Ile	rs199931362	missense variant	-	NC_000007.14:g.87545961C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala599Thr	rs2235036	missense variant	-	NC_000007.14:g.87545955C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala599Thr	rs2235036	missense variant	-	NC_000007.14:g.87545955C>T	UniProt,dbSNP
ABCB1	P08183	p.Ala599Thr	VAR_055426	missense variant	-	NC_000007.14:g.87545955C>T	UniProt
ABCB1	P08183	p.Gly600Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87545951C>A	NCI-TCGA
ABCB1	P08183	p.Gly600Asp	rs748125208	missense variant	-	NC_000007.14:g.87545951C>T	ExAC,gnomAD
ABCB1	P08183	p.Gly600Ala	rs748125208	missense variant	-	NC_000007.14:g.87545951C>G	ExAC,gnomAD
ABCB1	P08183	p.Asp602Asn	rs201365503	missense variant	-	NC_000007.14:g.87545946C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp602Tyr	rs201365503	missense variant	-	NC_000007.14:g.87545946C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp603His	rs746054969	missense variant	-	NC_000007.14:g.87545943C>G	ExAC,gnomAD
ABCB1	P08183	p.Asp603Tyr	rs746054969	missense variant	-	NC_000007.14:g.87545943C>A	ExAC,gnomAD
ABCB1	P08183	p.Asp603Glu	rs757574649	missense variant	-	NC_000007.14:g.87545941A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly604Glu	COSM1092617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87545939C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Val605Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87545937C>T	NCI-TCGA
ABCB1	P08183	p.Ile606Leu	rs749574370	missense variant	-	NC_000007.14:g.87545934T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile606Phe	rs749574370	missense variant	-	NC_000007.14:g.87545934T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val607Met	rs149359465	missense variant	-	NC_000007.14:g.87545931C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys609Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87545923T>A	NCI-TCGA
ABCB1	P08183	p.Lys609Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87545925T>C	NCI-TCGA
ABCB1	P08183	p.Gly610Glu	COSM1698852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87545921C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly610Arg	rs1213042982	missense variant	-	NC_000007.14:g.87545922C>T	gnomAD
ABCB1	P08183	p.Asp613Tyr	rs57001392	missense variant	-	NC_000007.14:g.87545913C>A	ExAC,gnomAD
ABCB1	P08183	p.Glu614Lys	COSM3924162	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87545910C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu614Asp	rs767011913	missense variant	-	NC_000007.14:g.87545908T>G	ExAC,gnomAD
ABCB1	P08183	p.Leu615Pro	rs1242139767	missense variant	-	NC_000007.14:g.87545906A>G	TOPMed,gnomAD
ABCB1	P08183	p.Leu615Val	rs1277845808	missense variant	-	NC_000007.14:g.87545907G>C	gnomAD
ABCB1	P08183	p.Leu615His	rs1242139767	missense variant	-	NC_000007.14:g.87545906A>T	TOPMed,gnomAD
ABCB1	P08183	p.Met616Lys	rs1308127826	missense variant	-	NC_000007.14:g.87545903A>T	gnomAD
ABCB1	P08183	p.Glu618Gln	COSM1092616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87545898C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Lys619Glu	rs1435673611	missense variant	-	NC_000007.14:g.87545895T>C	TOPMed
ABCB1	P08183	p.Gly620Asp	rs765970736	missense variant	-	NC_000007.14:g.87545891C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe623Leu	rs772821889	missense variant	-	NC_000007.14:g.87545883A>G	ExAC,gnomAD
ABCB1	P08183	p.Lys624Arg	rs141018820	missense variant	-	NC_000007.14:g.87545879T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val626Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87545873A>G	NCI-TCGA
ABCB1	P08183	p.Thr627Pro	rs1160807373	missense variant	-	NC_000007.14:g.87545871T>G	gnomAD
ABCB1	P08183	p.Met628Val	rs1420748687	missense variant	-	NC_000007.14:g.87545868T>C	gnomAD
ABCB1	P08183	p.Ala631Thr	rs1373168864	missense variant	-	NC_000007.14:g.87544996C>T	gnomAD
ABCB1	P08183	p.Asn633Lys	rs1203228011	missense variant	-	NC_000007.14:g.87544988A>T	gnomAD
ABCB1	P08183	p.Glu634Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544987C>T	NCI-TCGA
ABCB1	P08183	p.Glu634Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.87544987C>A	NCI-TCGA
ABCB1	P08183	p.Val635Ala	rs764906803	missense variant	-	NC_000007.14:g.87544983A>G	ExAC,gnomAD
ABCB1	P08183	p.Glu636Ter	rs1265709861	stop gained	-	NC_000007.14:g.87544981C>A	gnomAD
ABCB1	P08183	p.Glu636Lys	rs1265709861	missense variant	-	NC_000007.14:g.87544981C>T	gnomAD
ABCB1	P08183	p.Glu638Ala	rs1480244258	missense variant	-	NC_000007.14:g.87544974T>G	TOPMed
ABCB1	P08183	p.Ala641Gly	rs748496246	missense variant	-	NC_000007.14:g.87544965G>C	ExAC,gnomAD
ABCB1	P08183	p.Ala641Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544966C>T	NCI-TCGA
ABCB1	P08183	p.Asp642MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87544964A>-	NCI-TCGA
ABCB1	P08183	p.Asp642Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544963C>T	NCI-TCGA
ABCB1	P08183	p.Asp642Val	rs201352373	missense variant	-	NC_000007.14:g.87544962T>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Ser646Ile	rs528939709	missense variant	-	NC_000007.14:g.87544950C>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Ser646ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87544951T>-	NCI-TCGA
ABCB1	P08183	p.Glu647Lys	rs771100656	missense variant	-	NC_000007.14:g.87544948C>T	ExAC,gnomAD
ABCB1	P08183	p.Ile648Thr	rs773525613	missense variant	-	NC_000007.14:g.87544944A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile648Val	rs1415499957	missense variant	-	NC_000007.14:g.87544945T>C	gnomAD
ABCB1	P08183	p.Ile648Ser	rs773525613	missense variant	-	NC_000007.14:g.87544944A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp649Asn	rs1391697654	missense variant	-	NC_000007.14:g.87544942C>T	gnomAD
ABCB1	P08183	p.Ala650Gly	rs200378616	missense variant	-	NC_000007.14:g.87544938G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala650Asp	rs200378616	missense variant	-	NC_000007.14:g.87544938G>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser654Pro	rs1402478835	missense variant	-	NC_000007.14:g.87544927A>G	gnomAD
ABCB1	P08183	p.Ser655Pro	rs1171481420	missense variant	-	NC_000007.14:g.87544924A>G	TOPMed,gnomAD
ABCB1	P08183	p.Asn656Lys	rs1478102663	missense variant	-	NC_000007.14:g.87544919A>C	gnomAD
ABCB1	P08183	p.Asp657Glu	rs1434727302	missense variant	-	NC_000007.14:g.87544916A>C	gnomAD
ABCB1	P08183	p.Asp657Tyr	rs1372487776	missense variant	-	NC_000007.14:g.87544918C>A	gnomAD
ABCB1	P08183	p.Asp657Gly	rs781571880	missense variant	-	NC_000007.14:g.87544917T>C	ExAC,gnomAD
ABCB1	P08183	p.Ser658Pro	COSM1452585	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544915A>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Arg659Ile	COSM3431821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544911C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser661Asn	rs769089888	missense variant	-	NC_000007.14:g.87544905C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu662Arg	rs35657960	missense variant	-	NC_000007.14:g.87544902A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu662Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544903G>T	NCI-TCGA
ABCB1	P08183	p.Arg664Ile	COSM1092614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544896C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Lys665Gln	rs145840638	missense variant	-	NC_000007.14:g.87544894T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg666Ile	rs750020655	missense variant	-	NC_000007.14:g.87544890C>A	ExAC,gnomAD
ABCB1	P08183	p.Ser667Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544887G>A	NCI-TCGA
ABCB1	P08183	p.Thr668Ala	rs778576220	missense variant	-	NC_000007.14:g.87544885T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg669His	rs146703713	missense variant	-	NC_000007.14:g.87544881C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg669Cys	rs35023033	missense variant	-	NC_000007.14:g.87544882G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg669Leu	rs146703713	missense variant	-	NC_000007.14:g.87544881C>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg669Ser	rs35023033	missense variant	-	NC_000007.14:g.87544882G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg670Lys	rs201298259	missense variant	-	NC_000007.14:g.87544878C>T	ExAC,gnomAD
ABCB1	P08183	p.Ser671Arg	rs766339610	missense variant	-	NC_000007.14:g.87544874A>C	ExAC,gnomAD
ABCB1	P08183	p.Ser671Asn	rs200178485	missense variant	-	NC_000007.14:g.87544875C>T	gnomAD
ABCB1	P08183	p.Ser671Arg	rs983438430	missense variant	-	NC_000007.14:g.87544876T>G	gnomAD
ABCB1	P08183	p.Val672Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544873C>T	NCI-TCGA
ABCB1	P08183	p.Arg673Cys	rs200859389	missense variant	-	NC_000007.14:g.87544870G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg673His	rs184290374	missense variant	-	NC_000007.14:g.87544869C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Gly674Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544866C>A	NCI-TCGA
ABCB1	P08183	p.Gly674Ter	COSM747735	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87544867C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly674Ala	COSM747736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544866C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Asp679Glu	rs59340265	missense variant	-	NC_000007.14:g.87544850G>C	ExAC,gnomAD
ABCB1	P08183	p.Asp679His	rs952145392	missense variant	-	NC_000007.14:g.87544852C>G	gnomAD
ABCB1	P08183	p.Arg680Gly	rs201355162	missense variant	-	NC_000007.14:g.87544849T>C	TOPMed
ABCB1	P08183	p.Lys681Glu	COSM1313360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544846T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu682Val	rs1323794979	missense variant	-	NC_000007.14:g.87544843G>C	TOPMed,gnomAD
ABCB1	P08183	p.Leu682Phe	rs1323794979	missense variant	-	NC_000007.14:g.87544843G>A	TOPMed,gnomAD
ABCB1	P08183	p.Ser683Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544839C>G	NCI-TCGA
ABCB1	P08183	p.Thr684Asn	rs1027717457	missense variant	-	NC_000007.14:g.87544836G>T	TOPMed,gnomAD
ABCB1	P08183	p.Thr684Ile	rs1027717457	missense variant	-	NC_000007.14:g.87544836G>A	TOPMed,gnomAD
ABCB1	P08183	p.Ala687Val	rs1271391029	missense variant	-	NC_000007.14:g.87544827G>A	TOPMed
ABCB1	P08183	p.Ala687Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544827G>T	NCI-TCGA
ABCB1	P08183	p.Ala687Pro	rs1043070641	missense variant	-	NC_000007.14:g.87544828C>G	TOPMed
ABCB1	P08183	p.Leu688Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544825G>C	NCI-TCGA
ABCB1	P08183	p.Asp689Gly	rs1189101528	missense variant	-	NC_000007.14:g.87544274T>C	gnomAD
ABCB1	P08183	p.Glu690Lys	rs921088140	missense variant	-	NC_000007.14:g.87544272C>T	TOPMed
ABCB1	P08183	p.Ile692Val	rs764417353	missense variant	-	NC_000007.14:g.87544266T>C	ExAC,gnomAD
ABCB1	P08183	p.Pro694Leu	rs760977802	missense variant	-	NC_000007.14:g.87544259G>A	ExAC,gnomAD
ABCB1	P08183	p.Ser696Phe	COSM3641918	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544253G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Phe697Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544250A>C	NCI-TCGA
ABCB1	P08183	p.Met701Ile	COSM3641917	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544237C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Met701Val	rs772563512	missense variant	-	NC_000007.14:g.87544239T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr706Asn	rs773899676	missense variant	-	NC_000007.14:g.87544223G>T	ExAC,gnomAD
ABCB1	P08183	p.Glu707Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.87544221C>A	NCI-TCGA
ABCB1	P08183	p.Trp708Cys	rs1331432775	missense variant	-	NC_000007.14:g.87544216C>A	TOPMed
ABCB1	P08183	p.Val712Ala	rs1226611649	missense variant	-	NC_000007.14:g.87544205A>G	TOPMed
ABCB1	P08183	p.Val713Gly	rs576829142	missense variant	-	NC_000007.14:g.87544202A>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val713Ile	rs1286029307	missense variant	-	NC_000007.14:g.87544203C>T	gnomAD
ABCB1	P08183	p.Gly714Ala	rs748919574	missense variant	-	NC_000007.14:g.87544199C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe716Leu	rs1205336910	missense variant	-	NC_000007.14:g.87544194A>G	TOPMed
ABCB1	P08183	p.Ala718Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87544187G>T	NCI-TCGA
ABCB1	P08183	p.Ala718Val	COSM3883060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544187G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile720Val	rs1020594116	missense variant	-	NC_000007.14:g.87544182T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ile720Leu	rs1020594116	missense variant	-	NC_000007.14:g.87544182T>A	TOPMed,gnomAD
ABCB1	P08183	p.Asn721Ser	rs1298586570	missense variant	-	NC_000007.14:g.87544178T>C	TOPMed,gnomAD
ABCB1	P08183	p.Gly722Glu	COSM3924161	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544175C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly722Val	COSM69486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544175C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu724Met	COSM1330485	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544170G>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Gln725Arg	rs755856690	missense variant	-	NC_000007.14:g.87544166T>C	ExAC,gnomAD
ABCB1	P08183	p.Ala727Val	rs780857986	missense variant	-	NC_000007.14:g.87544160G>A	ExAC,gnomAD
ABCB1	P08183	p.Ile731Leu	COSM1452583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87544149T>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile731Met	rs1419673180	missense variant	-	NC_000007.14:g.87544147T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ser733Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.87544142G>T	NCI-TCGA
ABCB1	P08183	p.Ile735Val	rs1392639104	missense variant	-	NC_000007.14:g.87544137T>C	TOPMed
ABCB1	P08183	p.Ile736Leu	rs200519232	missense variant	-	NC_000007.14:g.87544134T>G	gnomAD
ABCB1	P08183	p.Val738Ile	rs1296251129	missense variant	-	NC_000007.14:g.87541464C>T	gnomAD
ABCB1	P08183	p.Phe739Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87541459A>T	NCI-TCGA
ABCB1	P08183	p.Thr740Ile	rs769508094	missense variant	-	NC_000007.14:g.87541457G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg741Ile	rs1359542599	missense variant	-	NC_000007.14:g.87541454C>A	TOPMed,gnomAD
ABCB1	P08183	p.Asp744Asn	COSM3641916	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87541446C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Asp744Glu	rs747772100	missense variant	-	NC_000007.14:g.87541444A>T	ExAC,gnomAD
ABCB1	P08183	p.Glu746Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87541440C>T	NCI-TCGA
ABCB1	P08183	p.Lys748Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87541433T>G	NCI-TCGA
ABCB1	P08183	p.Arg749Leu	rs754765644	missense variant	-	NC_000007.14:g.87541430C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg749Gln	rs754765644	missense variant	-	NC_000007.14:g.87541430C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg749Ter	rs1323297861	stop gained	-	NC_000007.14:g.87541431G>A	gnomAD
ABCB1	P08183	p.Asn753Asp	rs200152744	missense variant	-	NC_000007.14:g.87541419T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu754Phe	rs1408739324	missense variant	-	NC_000007.14:g.87541414C>A	TOPMed,gnomAD
ABCB1	P08183	p.Leu754Trp	rs1271272875	missense variant	-	NC_000007.14:g.87541415A>C	TOPMed
ABCB1	P08183	p.Phe755Leu	COSM1092611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87541413A>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu757Pro	rs975854106	missense variant	-	NC_000007.14:g.87541406A>G	TOPMed,gnomAD
ABCB1	P08183	p.Leu758Ter	rs1453981427	stop gained	-	NC_000007.14:g.87541403A>T	gnomAD
ABCB1	P08183	p.Phe759Val	rs375295612	missense variant	-	NC_000007.14:g.87541401A>C	ESP,TOPMed
ABCB1	P08183	p.Leu760Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87541398G>T	NCI-TCGA
ABCB1	P08183	p.Leu760Pro	COSM747739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87541397A>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu760Val	rs1251424548	missense variant	-	NC_000007.14:g.87541398G>C	gnomAD
ABCB1	P08183	p.Gly763Val	COSM1092610	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87541388C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile765Val	rs779916152	missense variant	-	NC_000007.14:g.87541383T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser766Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87541379G>T	NCI-TCGA
ABCB1	P08183	p.Ser766Thr	COSM1452581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87541380A>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile768Val	rs149038363	missense variant	-	NC_000007.14:g.87541374T>C	ESP,TOPMed,gnomAD
ABCB1	P08183	p.Thr769Ala	rs1250849808	missense variant	-	NC_000007.14:g.87541371T>C	gnomAD
ABCB1	P08183	p.Leu772Phe	COSM3641914	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87541362G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu772His	rs753847579	missense variant	-	NC_000007.14:g.87541361A>T	ExAC,gnomAD
ABCB1	P08183	p.Gly774Ser	COSM1488745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87539345C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly774Arg	rs199564535	missense variant	-	NC_000007.14:g.87539345C>G	ExAC,gnomAD
ABCB1	P08183	p.Thr776Lys	rs372521819	missense variant	-	NC_000007.14:g.87539338G>T	ESP
ABCB1	P08183	p.Phe777Leu	rs1381927860	missense variant	-	NC_000007.14:g.87539334A>C	gnomAD
ABCB1	P08183	p.Lys779Glu	rs1369989041	missense variant	-	NC_000007.14:g.87539330T>C	TOPMed
ABCB1	P08183	p.Thr785Ser	rs1220754414	missense variant	-	NC_000007.14:g.87539311G>C	TOPMed
ABCB1	P08183	p.Arg787Trp	rs200903110	missense variant	-	NC_000007.14:g.87539306G>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Arg789Gln	rs199779996	missense variant	-	NC_000007.14:g.87539299C>T	-
ABCB1	P08183	p.Arg789Ter	rs1373964332	stop gained	-	NC_000007.14:g.87539300G>A	gnomAD
ABCB1	P08183	p.Tyr790Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87539296T>C	NCI-TCGA
ABCB1	P08183	p.Met791Thr	rs201661522	missense variant	-	NC_000007.14:g.87539293A>G	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met791Val	rs756188258	missense variant	-	NC_000007.14:g.87539294T>C	ExAC,gnomAD
ABCB1	P08183	p.Val792Ile	rs1216670269	missense variant	-	NC_000007.14:g.87539291C>T	TOPMed
ABCB1	P08183	p.Arg794Gln	rs201249149	missense variant	-	NC_000007.14:g.87539284C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg794Leu	rs201249149	missense variant	-	NC_000007.14:g.87539284C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser795Cys	rs201418528	missense variant	-	NC_000007.14:g.87539281G>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser795Thr	rs766867299	missense variant	-	NC_000007.14:g.87539282A>T	ExAC,gnomAD
ABCB1	P08183	p.Ser795Pro	rs766867299	missense variant	-	NC_000007.14:g.87539282A>G	ExAC,gnomAD
ABCB1	P08183	p.Leu797Ile	rs751041906	missense variant	-	NC_000007.14:g.87539276G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gln799His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87539268C>A	NCI-TCGA
ABCB1	P08183	p.Asp800Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87536541C>A	NCI-TCGA
ABCB1	P08183	p.Asp800Glu	rs201142514	missense variant	-	NC_000007.14:g.87536539A>T	ExAC,gnomAD
ABCB1	P08183	p.Val801Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87536537A>G	NCI-TCGA
ABCB1	P08183	p.Val801Met	rs2235039	missense variant	-	NC_000007.14:g.87536538C>T	UniProt,dbSNP
ABCB1	P08183	p.Val801Met	VAR_055428	missense variant	-	NC_000007.14:g.87536538C>T	UniProt
ABCB1	P08183	p.Val801Met	rs2235039	missense variant	-	NC_000007.14:g.87536538C>T	-
ABCB1	P08183	p.Asp805Asn	COSM1092608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87536526C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Asp805Tyr	COSM1313359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87536526C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Asp806Asn	COSM3784091	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87536523C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Asn809ThrPheSerTerUnk	COSM5139801	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87536513T>-	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly812Glu	COSM3883058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87536504C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly812Arg	rs764059820	missense variant	-	NC_000007.14:g.87536505C>T	TOPMed
ABCB1	P08183	p.Ala813Gly	rs201744003	missense variant	-	NC_000007.14:g.87536501G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala813Val	rs201744003	missense variant	-	NC_000007.14:g.87536501G>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala819Thr	rs200754866	missense variant	-	NC_000007.14:g.87536484C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala819Ser	rs200754866	missense variant	-	NC_000007.14:g.87536484C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp821Gly	rs1334428451	missense variant	-	NC_000007.14:g.87536477T>C	TOPMed
ABCB1	P08183	p.Ala823Thr	rs1289543302	missense variant	-	NC_000007.14:g.87536472C>T	TOPMed
ABCB1	P08183	p.Gln824Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87536469G>C	NCI-TCGA
ABCB1	P08183	p.Gly827Glu	rs1455293604	missense variant	-	NC_000007.14:g.87536459C>T	gnomAD
ABCB1	P08183	p.Ile829Val	rs2032581	missense variant	-	NC_000007.14:g.87531494T>C	gnomAD
ABCB1	P08183	p.Ile829Val	rs2032581	missense variant	-	NC_000007.14:g.87531494T>C	UniProt,dbSNP
ABCB1	P08183	p.Ile829Val	VAR_055429	missense variant	-	NC_000007.14:g.87531494T>C	UniProt
ABCB1	P08183	p.Gly830Val	rs767089531	missense variant	-	NC_000007.14:g.87531490C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly830Asp	rs767089531	missense variant	-	NC_000007.14:g.87531490C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly830Ser	rs1199081702	missense variant	-	NC_000007.14:g.87531491C>T	TOPMed
ABCB1	P08183	p.Leu833Phe	rs1280076381	missense variant	-	NC_000007.14:g.87531482G>A	TOPMed,gnomAD
ABCB1	P08183	p.Leu833Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531481A>G	NCI-TCGA
ABCB1	P08183	p.Leu833Val	rs1280076381	missense variant	-	NC_000007.14:g.87531482G>C	TOPMed,gnomAD
ABCB1	P08183	p.Ala834Val	COSM6178504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531478G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile836Val	rs28381967	missense variant	-	NC_000007.14:g.87531473T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr837Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531469G>A	NCI-TCGA
ABCB1	P08183	p.Thr837Ala	rs762765487	missense variant	-	NC_000007.14:g.87531470T>C	ExAC,gnomAD
ABCB1	P08183	p.Asn839Ser	rs773262840	missense variant	-	NC_000007.14:g.87531463T>C	ExAC,gnomAD
ABCB1	P08183	p.Asn839Thr	rs773262840	missense variant	-	NC_000007.14:g.87531463T>G	ExAC,gnomAD
ABCB1	P08183	p.Ala841Thr	COSM1452579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531458C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala841Glu	rs1416566507	missense variant	-	NC_000007.14:g.87531457G>T	gnomAD
ABCB1	P08183	p.Asn842His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531455T>G	NCI-TCGA
ABCB1	P08183	p.Leu843Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531452G>T	NCI-TCGA
ABCB1	P08183	p.Leu843Arg	COSM1243950	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531451A>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly846Arg	rs1191107366	missense variant	-	NC_000007.14:g.87531443C>T	TOPMed
ABCB1	P08183	p.Gly846Glu	rs773175021	missense variant	-	NC_000007.14:g.87531442C>T	gnomAD
ABCB1	P08183	p.Ile847Val	rs1432480917	missense variant	-	NC_000007.14:g.87531440T>C	gnomAD
ABCB1	P08183	p.Ile848Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531436A>C	NCI-TCGA
ABCB1	P08183	p.Ile849Met	rs36105130	missense variant	-	NC_000007.14:g.87531432T>C	-
ABCB1	P08183	p.Ser850Phe	COSM3641913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531430G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Phe851Tyr	rs1158620384	missense variant	-	NC_000007.14:g.87531427A>T	gnomAD
ABCB1	P08183	p.Ile852Met	rs747022752	missense variant	-	NC_000007.14:g.87531423G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr853Asn	rs557586335	missense variant	-	NC_000007.14:g.87531422A>T	1000Genomes
ABCB1	P08183	p.Tyr853Cys	rs371274259	missense variant	-	NC_000007.14:g.87531421T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Trp855Ter	rs746152564	stop gained	-	NC_000007.14:g.87531415C>T	ExAC,gnomAD
ABCB1	P08183	p.Gln856Ter	COSM3883057	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87531413G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu859Arg	COSM3883056	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531403A>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu861Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531398G>T	NCI-TCGA
ABCB1	P08183	p.Leu861Pro	rs1000911090	missense variant	-	NC_000007.14:g.87531397A>G	TOPMed
ABCB1	P08183	p.Leu862Ser	rs1295312177	missense variant	-	NC_000007.14:g.87531394A>G	TOPMed
ABCB1	P08183	p.Ile864Thr	rs749745819	missense variant	-	NC_000007.14:g.87531388A>G	ExAC,gnomAD
ABCB1	P08183	p.Ile864Val	rs539556127	missense variant	-	NC_000007.14:g.87531389T>C	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Pro866Ser	rs778283893	missense variant	-	NC_000007.14:g.87531383G>A	ExAC
ABCB1	P08183	p.Ile867Met	rs1380560733	missense variant	-	NC_000007.14:g.87531378G>C	TOPMed
ABCB1	P08183	p.Ile870ArgLys	NCI-TCGA novel	insertion	-	NC_000007.14:g.87531368_87531369insCTTCCT	NCI-TCGA
ABCB1	P08183	p.Ala871Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531367G>T	NCI-TCGA
ABCB1	P08183	p.Gly872Val	COSM1092606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531364C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Val874Ala	rs565619660	missense variant	-	NC_000007.14:g.87531358A>G	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Met878Leu	rs1356091019	missense variant	-	NC_000007.14:g.87531347T>A	gnomAD
ABCB1	P08183	p.Gly881Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531337C>A	NCI-TCGA
ABCB1	P08183	p.Gln882Glu	rs1325417202	missense variant	-	NC_000007.14:g.87531335G>C	gnomAD
ABCB1	P08183	p.Gln882Arg	COSM3883055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531334T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala883Ser	rs147823195	missense variant	-	NC_000007.14:g.87531332C>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Ala883Thr	rs147823195	missense variant	-	NC_000007.14:g.87531332C>T	ESP,ExAC,gnomAD
ABCB1	P08183	p.Leu884Pro	rs375296280	missense variant	-	NC_000007.14:g.87531328A>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys885Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531324T>G	NCI-TCGA
ABCB1	P08183	p.Asp886Asn	rs1292455657	missense variant	-	NC_000007.14:g.87531323C>T	TOPMed
ABCB1	P08183	p.Lys887Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531319T>A	NCI-TCGA
ABCB1	P08183	p.Lys887Glu	COSM1568835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531320T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Lys887Asn	VAR_035737	Missense	-	-	UniProt
ABCB1	P08183	p.Glu889Ter	COSM3883054	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87531314C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu891Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87531308C>T	NCI-TCGA
ABCB1	P08183	p.Gly892Cys	COSM1092605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531305C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser893Thr	RCV000429867	missense variant	Ovarian Neoplasms	NC_000007.14:g.87531302A>T	ClinVar
ABCB1	P08183	p.Ser893Ala	RCV000211425	missense variant	-	NC_000007.14:g.87531302A>C	ClinVar
ABCB1	P08183	p.Ser893Ala	RCV000211207	missense variant	-	NC_000007.14:g.87531302A>C	ClinVar
ABCB1	P08183	p.Ser893Thr	rs2032582	missense variant	-	NC_000007.14:g.87531302A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser893Thr	rs2032582	missense variant	-	NC_000007.14:g.87531302A>T	UniProt,dbSNP
ABCB1	P08183	p.Ser893Thr	VAR_013362	missense variant	-	NC_000007.14:g.87531302A>T	UniProt
ABCB1	P08183	p.Ser893Ala	rs2032582	missense variant	-	NC_000007.14:g.87531302A>C	UniProt,dbSNP
ABCB1	P08183	p.Ser893Ala	VAR_013361	missense variant	-	NC_000007.14:g.87531302A>C	UniProt
ABCB1	P08183	p.Ser893Ala	rs2032582	missense variant	-	NC_000007.14:g.87531302A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly894Ala	COSM360322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531298C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly894Arg	rs772319458	missense variant	-	NC_000007.14:g.87531299C>T	ExAC,gnomAD
ABCB1	P08183	p.Lys895Met	COSM6110889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87531295T>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile896Met	rs532094830	missense variant	-	NC_000007.14:g.87520874G>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile896Asn	rs1219195402	missense variant	-	NC_000007.14:g.87520875A>T	gnomAD
ABCB1	P08183	p.Ala897Thr	rs147487745	missense variant	-	NC_000007.14:g.87520873C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr898Ala	rs767693167	missense variant	-	NC_000007.14:g.87520870T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu899Lys	COSM747740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87520867C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala900Thr	rs138472105	missense variant	-	NC_000007.14:g.87520864C>T	1000Genomes,gnomAD
ABCB1	P08183	p.Ile901Thr	rs1305120399	missense variant	-	NC_000007.14:g.87520860A>G	TOPMed,gnomAD
ABCB1	P08183	p.Ile901Met	rs1441208915	missense variant	-	NC_000007.14:g.87520859T>C	gnomAD
ABCB1	P08183	p.Glu902Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.87520858C>A	NCI-TCGA
ABCB1	P08183	p.Phe904Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87520852A>C	NCI-TCGA
ABCB1	P08183	p.Phe904Ser	rs1244089186	missense variant	-	NC_000007.14:g.87520851A>G	TOPMed
ABCB1	P08183	p.Arg905Gln	rs774299788	missense variant	-	NC_000007.14:g.87520848C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg905Ter	rs759603974	stop gained	-	NC_000007.14:g.87520849G>A	ExAC,gnomAD
ABCB1	P08183	p.Thr906Asn	COSM747741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87520845G>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Val907Ile	rs573245329	missense variant	-	NC_000007.14:g.87520843C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val907Phe	rs573245329	missense variant	-	NC_000007.14:g.87520843C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gln912Glu	COSM4825526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87520828G>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu913Lys	rs773542500	missense variant	-	NC_000007.14:g.87520825C>T	ExAC,gnomAD
ABCB1	P08183	p.Gln914Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87520821T>A	NCI-TCGA
ABCB1	P08183	p.Gln914His	COSM1313358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87520820C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Lys915Asn	rs770181793	missense variant	-	NC_000007.14:g.87520817C>A	ExAC,gnomAD
ABCB1	P08183	p.Lys915Thr	rs1234949048	missense variant	-	NC_000007.14:g.87520818T>G	gnomAD
ABCB1	P08183	p.His918Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87520810G>T	NCI-TCGA
ABCB1	P08183	p.His918Tyr	rs748646739	missense variant	-	NC_000007.14:g.87520810G>A	ExAC,gnomAD
ABCB1	P08183	p.Met919Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87520806A>C	NCI-TCGA
ABCB1	P08183	p.Met919Thr	rs201740660	missense variant	-	NC_000007.14:g.87520806A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met919Lys	rs201740660	missense variant	-	NC_000007.14:g.87520806A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser923Arg	rs1481562306	missense variant	-	NC_000007.14:g.87520793A>T	gnomAD
ABCB1	P08183	p.Ser923Asn	rs377518806	missense variant	-	NC_000007.14:g.87520794C>T	ESP,gnomAD
ABCB1	P08183	p.Ser923Ile	rs377518806	missense variant	-	NC_000007.14:g.87520794C>A	ESP,gnomAD
ABCB1	P08183	p.Gln925Lys	rs746491990	missense variant	-	NC_000007.14:g.87520789G>T	ExAC,gnomAD
ABCB1	P08183	p.Val926Leu	rs201316099	missense variant	-	NC_000007.14:g.87520786C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val926Ile	rs201316099	missense variant	-	NC_000007.14:g.87520786C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro927Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87520783G>A	NCI-TCGA
ABCB1	P08183	p.Tyr928Ser	rs148718120	missense variant	-	NC_000007.14:g.87520779T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg929Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87520776C>A	NCI-TCGA
ABCB1	P08183	p.Asn930His	rs1233953132	missense variant	-	NC_000007.14:g.87519465T>G	gnomAD
ABCB1	P08183	p.Leu932Ser	rs749050513	missense variant	-	NC_000007.14:g.87519458A>G	ExAC,gnomAD
ABCB1	P08183	p.Lys934Arg	rs1290803512	missense variant	-	NC_000007.14:g.87519452T>C	gnomAD
ABCB1	P08183	p.Ile937Leu	rs200811596	missense variant	-	NC_000007.14:g.87519444T>G	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Gly939Ala	COSM453507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87519437C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly939Arg	rs1157098297	missense variant	-	NC_000007.14:g.87519438C>T	gnomAD
ABCB1	P08183	p.Thr941Ile	rs1455566610	missense variant	-	NC_000007.14:g.87519431G>A	TOPMed,gnomAD
ABCB1	P08183	p.Ser943Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87519425G>T	NCI-TCGA
ABCB1	P08183	p.Ser943Phe	COSM3641911	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87519425G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Phe944Ser	rs1489594324	missense variant	-	NC_000007.14:g.87519422A>G	TOPMed
ABCB1	P08183	p.Thr945Ile	rs766473800	missense variant	-	NC_000007.14:g.87519419G>A	ExAC,gnomAD
ABCB1	P08183	p.Ala947Ser	rs750510915	missense variant	-	NC_000007.14:g.87519414C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met948Val	rs1253848627	missense variant	-	NC_000007.14:g.87519411T>C	gnomAD
ABCB1	P08183	p.Met948Thr	rs765372820	missense variant	-	NC_000007.14:g.87519410A>G	ExAC,gnomAD
ABCB1	P08183	p.Tyr950Cys	rs1486026524	missense variant	-	NC_000007.14:g.87519404T>C	gnomAD
ABCB1	P08183	p.Phe951SerPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000007.14:g.87519401_87519402insCCCTACTGTG	NCI-TCGA
ABCB1	P08183	p.Ser952Thr	rs1259613365	missense variant	-	NC_000007.14:g.87519399A>T	gnomAD
ABCB1	P08183	p.Ser952Phe	COSM231681	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87519398G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Tyr953His	rs371370057	missense variant	-	NC_000007.14:g.87519396A>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr953Cys	rs764408569	missense variant	-	NC_000007.14:g.87519395T>C	ExAC,gnomAD
ABCB1	P08183	p.Gly955Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.87519390C>A	NCI-TCGA
ABCB1	P08183	p.Cys956Tyr	rs201357626	missense variant	-	NC_000007.14:g.87519386C>T	gnomAD
ABCB1	P08183	p.Arg958Trp	rs200280095	missense variant	-	NC_000007.14:g.87519381G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg958Gln	rs144369247	missense variant	-	NC_000007.14:g.87519380C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly960Glu	COSM3641910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87519374C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala961Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87519371G>A	NCI-TCGA
ABCB1	P08183	p.Ala961Thr	COSM5408175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87519372C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu963Phe	rs759050765	missense variant	-	NC_000007.14:g.87519364C>A	ExAC,gnomAD
ABCB1	P08183	p.Leu963Trp	COSM4922438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87519365A>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Leu963Ser	rs1395355925	missense variant	-	NC_000007.14:g.87519365A>G	gnomAD
ABCB1	P08183	p.Val964Met	rs1457360738	missense variant	-	NC_000007.14:g.87519363C>T	TOPMed,gnomAD
ABCB1	P08183	p.Glu972Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87519339C>G	NCI-TCGA
ABCB1	P08183	p.Glu972Lys	rs770657790	missense variant	-	NC_000007.14:g.87519339C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp973Tyr	rs748995428	missense variant	-	NC_000007.14:g.87519336C>A	ExAC,gnomAD
ABCB1	P08183	p.Asp973Asn	rs748995428	missense variant	-	NC_000007.14:g.87519336C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp973Ala	rs149638669	missense variant	-	NC_000007.14:g.87519335T>G	ESP,gnomAD
ABCB1	P08183	p.Val974Phe	COSM1092604	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87519333C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Val974Ile	rs777591929	missense variant	-	NC_000007.14:g.87519333C>T	ExAC,gnomAD
ABCB1	P08183	p.Phe978Ile	rs781068922	missense variant	-	NC_000007.14:g.87516661A>T	ExAC,gnomAD
ABCB1	P08183	p.Ser979Leu	COSM3641909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87516657G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala980Pro	rs572038993	missense variant	-	NC_000007.14:g.87516655C>G	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Phe983Leu	rs746992715	missense variant	-	NC_000007.14:g.87516646A>G	ExAC,gnomAD
ABCB1	P08183	p.Phe983Ser	rs1441051651	missense variant	-	NC_000007.14:g.87516645A>G	TOPMed
ABCB1	P08183	p.Ala985Gly	rs1306027704	missense variant	-	NC_000007.14:g.87516639G>C	gnomAD
ABCB1	P08183	p.Met986Thr	rs1269015981	missense variant	-	NC_000007.14:g.87516636A>G	TOPMed
ABCB1	P08183	p.Met986Ile	rs778961519	missense variant	-	NC_000007.14:g.87516635C>T	ExAC,gnomAD
ABCB1	P08183	p.Ala987Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87516634C>T	NCI-TCGA
ABCB1	P08183	p.Ala987Val	rs1359447217	missense variant	-	NC_000007.14:g.87516633G>A	TOPMed
ABCB1	P08183	p.Val988Met	rs753967146	missense variant	-	NC_000007.14:g.87516631C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly989Glu	COSM453506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87516627C>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly989Val	rs374210543	missense variant	-	NC_000007.14:g.87516627C>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Ser992Asn	rs56849127	missense variant	-	NC_000007.14:g.87516618C>T	gnomAD
ABCB1	P08183	p.Ser992Ile	rs56849127	missense variant	-	NC_000007.14:g.87516618C>A	gnomAD
ABCB1	P08183	p.Ser993Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87516616A>C	NCI-TCGA
ABCB1	P08183	p.Tyr998Ser	rs756391728	missense variant	-	NC_000007.14:g.87516600T>G	ExAC,gnomAD
ABCB1	P08183	p.Ala999Thr	rs72552784	missense variant	-	NC_000007.14:g.87516598C>T	TOPMed
ABCB1	P08183	p.Ala999Thr	rs72552784	missense variant	-	NC_000007.14:g.87516598C>T	UniProt,dbSNP
ABCB1	P08183	p.Ala999Thr	VAR_015004	missense variant	-	NC_000007.14:g.87516598C>T	UniProt
ABCB1	P08183	p.Ala999Ser	rs72552784	missense variant	-	NC_000007.14:g.87516598C>A	TOPMed
ABCB1	P08183	p.Ala1001Thr	rs1213524837	missense variant	-	NC_000007.14:g.87516592C>T	gnomAD
ABCB1	P08183	p.Ala1001Gly	rs752955240	missense variant	-	NC_000007.14:g.87516591G>C	ExAC,gnomAD
ABCB1	P08183	p.Ser1004Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87516582G>A	NCI-TCGA
ABCB1	P08183	p.His1007Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87516573T>A	NCI-TCGA
ABCB1	P08183	p.His1007Arg	rs1279830740	missense variant	-	NC_000007.14:g.87516573T>C	gnomAD
ABCB1	P08183	p.Met1010Val	rs201974955	missense variant	-	NC_000007.14:g.87516565T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile1011Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87516562T>C	NCI-TCGA
ABCB1	P08183	p.Ile1011Phe	rs1239674801	missense variant	-	NC_000007.14:g.87516562T>A	gnomAD
ABCB1	P08183	p.Glu1013Asp	rs765970394	missense variant	-	NC_000007.14:g.87516554T>A	ExAC,gnomAD
ABCB1	P08183	p.Thr1015Asn	rs145774816	missense variant	-	NC_000007.14:g.87516549G>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1015ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87516550T>-	NCI-TCGA
ABCB1	P08183	p.Thr1015AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87516549_87516550insT	NCI-TCGA
ABCB1	P08183	p.Thr1015Ser	COSM1452578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87516550T>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Pro1016LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87516546G>-	NCI-TCGA
ABCB1	P08183	p.Pro1016Ser	COSM3032638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87516547G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Pro1016Arg	rs1355889810	missense variant	-	NC_000007.14:g.87516546G>C	TOPMed,gnomAD
ABCB1	P08183	p.Asp1019Glu	rs1327938429	missense variant	-	NC_000007.14:g.87516536G>T	TOPMed,gnomAD
ABCB1	P08183	p.Asp1019Asn	rs772778438	missense variant	-	NC_000007.14:g.87516538C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp1019Tyr	COSM6178507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87516538C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser1022Gly	rs1386411918	missense variant	-	NC_000007.14:g.87516529T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ser1022Arg	rs1158715642	missense variant	-	NC_000007.14:g.87516527G>T	gnomAD
ABCB1	P08183	p.Ser1022Arg	rs1386411918	missense variant	-	NC_000007.14:g.87516529T>G	TOPMed,gnomAD
ABCB1	P08183	p.Ser1022Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87516528C>A	NCI-TCGA
ABCB1	P08183	p.Thr1023Met	rs142183184	missense variant	-	NC_000007.14:g.87516525G>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1023Ala	rs1162482512	missense variant	-	NC_000007.14:g.87516526T>C	TOPMed
ABCB1	P08183	p.Gly1025Ser	rs1317094548	missense variant	-	NC_000007.14:g.87516520C>T	TOPMed
ABCB1	P08183	p.Gly1025Cys	COSM6178508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87516520C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly1025Ala	rs768507751	missense variant	-	NC_000007.14:g.87516519C>G	ExAC,gnomAD
ABCB1	P08183	p.Gly1025Asp	rs768507751	missense variant	-	NC_000007.14:g.87516519C>T	ExAC,gnomAD
ABCB1	P08183	p.Met1027Leu	rs553790901	missense variant	-	NC_000007.14:g.87516514T>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Met1027Thr	rs199819428	missense variant	-	NC_000007.14:g.87516513A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met1027Lys	rs199819428	missense variant	-	NC_000007.14:g.87516513A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1028Leu	rs371977867	missense variant	-	NC_000007.14:g.87516510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1028Ser	rs1432511771	missense variant	-	NC_000007.14:g.87516511G>A	TOPMed
ABCB1	P08183	p.Asn1029Ser	rs771856280	missense variant	-	NC_000007.14:g.87515427T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1030Ala	rs201542635	missense variant	-	NC_000007.14:g.87515425T>C	TOPMed
ABCB1	P08183	p.Leu1031Ser	rs745866303	missense variant	-	NC_000007.14:g.87515421A>G	ExAC,gnomAD
ABCB1	P08183	p.Glu1032Gly	rs769980649	missense variant	-	NC_000007.14:g.87515418T>C	ExAC,gnomAD
ABCB1	P08183	p.Val1035Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87515409A>G	NCI-TCGA
ABCB1	P08183	p.Thr1036Lys	rs896954671	missense variant	-	NC_000007.14:g.87515406G>T	gnomAD
ABCB1	P08183	p.Thr1036Ile	rs896954671	missense variant	-	NC_000007.14:g.87515406G>A	gnomAD
ABCB1	P08183	p.Phe1037Leu	rs781503569	missense variant	-	NC_000007.14:g.87515402A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1040Ala	rs201819590	missense variant	-	NC_000007.14:g.87515394A>G	ExAC,gnomAD
ABCB1	P08183	p.Val1041Ile	rs200968469	missense variant	-	NC_000007.14:g.87515392C>T	ExAC,gnomAD
ABCB1	P08183	p.Tyr1044Phe	rs780583874	missense variant	-	NC_000007.14:g.87515382T>A	ExAC,gnomAD
ABCB1	P08183	p.Pro1045Thr	rs957765239	missense variant	-	NC_000007.14:g.87515380G>T	TOPMed,gnomAD
ABCB1	P08183	p.Pro1045Ala	rs957765239	missense variant	-	NC_000007.14:g.87515380G>C	TOPMed,gnomAD
ABCB1	P08183	p.Thr1046Ile	rs1439277801	missense variant	-	NC_000007.14:g.87515376G>A	gnomAD
ABCB1	P08183	p.Thr1046Pro	rs758803493	missense variant	-	NC_000007.14:g.87515377T>G	ExAC,gnomAD
ABCB1	P08183	p.Arg1047Ter	rs751009298	stop gained	-	NC_000007.14:g.87515374G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1048Ser	rs778275248	missense variant	-	NC_000007.14:g.87515371G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1048Leu	rs756736504	missense variant	-	NC_000007.14:g.87515370G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile1050Leu	rs760344941	missense variant	-	NC_000007.14:g.87515365T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile1050Phe	rs760344941	missense variant	-	NC_000007.14:g.87515365T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1051Ala	rs28401798	missense variant	-	NC_000007.14:g.87515362G>C	UniProt,dbSNP
ABCB1	P08183	p.Pro1051Ala	VAR_022280	missense variant	-	NC_000007.14:g.87515362G>C	UniProt
ABCB1	P08183	p.Pro1051Ala	rs28401798	missense variant	-	NC_000007.14:g.87515362G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1052Ala	rs1370593595	missense variant	-	NC_000007.14:g.87515358A>G	gnomAD
ABCB1	P08183	p.Leu1053Pro	rs1409934524	missense variant	-	NC_000007.14:g.87515355A>G	TOPMed
ABCB1	P08183	p.Gln1054His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87515351C>A	NCI-TCGA
ABCB1	P08183	p.Gly1055Ter	COSM3950898	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87515350C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Gly1055Glu	rs774405049	missense variant	-	NC_000007.14:g.87515349C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly1055Arg	rs199891187	missense variant	-	NC_000007.14:g.87515350C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser1057Arg	rs770785509	missense variant	-	NC_000007.14:g.87515342G>T	ExAC,gnomAD
ABCB1	P08183	p.Leu1058Val	rs1447617813	missense variant	-	NC_000007.14:g.87515341G>C	TOPMed
ABCB1	P08183	p.Glu1059Ter	rs1377559224	stop gained	-	NC_000007.14:g.87515338C>A	gnomAD
ABCB1	P08183	p.Glu1059Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87515338C>T	NCI-TCGA
ABCB1	P08183	p.Lys1061Asn	rs1235695290	missense variant	-	NC_000007.14:g.87515330C>A	TOPMed
ABCB1	P08183	p.Lys1061Arg	rs1369130405	missense variant	-	NC_000007.14:g.87515331T>C	TOPMed
ABCB1	P08183	p.Lys1062Asn	rs1432613672	missense variant	-	NC_000007.14:g.87515327C>A	gnomAD
ABCB1	P08183	p.Gly1063Cys	rs761914266	missense variant	-	NC_000007.14:g.87515326C>A	ExAC,gnomAD
ABCB1	P08183	p.Gln1064His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87515321C>A	NCI-TCGA
ABCB1	P08183	p.Thr1065Met	rs776877163	missense variant	-	NC_000007.14:g.87515319G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1067Asp	rs780279896	missense variant	-	NC_000007.14:g.87515313G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1067Thr	rs201951511	missense variant	-	NC_000007.14:g.87515314C>T	ExAC,gnomAD
ABCB1	P08183	p.Ala1067Val	rs780279896	missense variant	-	NC_000007.14:g.87515313G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu1068Val	rs772547356	missense variant	-	NC_000007.14:g.87515311G>C	ExAC,gnomAD
ABCB1	P08183	p.Ser1071Arg	COSM1330486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87515300G>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser1072Asn	rs1433103757	missense variant	-	NC_000007.14:g.87515298C>T	TOPMed,gnomAD
ABCB1	P08183	p.Gly1073Ala	rs1198742227	missense variant	-	NC_000007.14:g.87515295C>G	TOPMed
ABCB1	P08183	p.Cys1074Tyr	rs1025622951	missense variant	-	NC_000007.14:g.87515292C>T	TOPMed,gnomAD
ABCB1	P08183	p.Cys1074Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87515292C>A	NCI-TCGA
ABCB1	P08183	p.Cys1074Trp	rs746235474	missense variant	-	NC_000007.14:g.87515291A>C	ExAC,gnomAD
ABCB1	P08183	p.Lys1076ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87515286_87515287insC	NCI-TCGA
ABCB1	P08183	p.Ser1077Arg	COSM6110890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87515282G>T	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser1077Asn	rs1431158619	missense variant	-	NC_000007.14:g.87515283C>T	TOPMed
ABCB1	P08183	p.Thr1078Ala	rs200192869	missense variant	-	NC_000007.14:g.87515281T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1078Ser	rs200192869	missense variant	-	NC_000007.14:g.87515281T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1078Pro	rs200192869	missense variant	-	NC_000007.14:g.87515281T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1079Met	rs1377795423	missense variant	-	NC_000007.14:g.87515278C>T	TOPMed
ABCB1	P08183	p.Val1080Ile	rs1475311087	missense variant	-	NC_000007.14:g.87515275C>T	TOPMed
ABCB1	P08183	p.Val1080Ala	rs1288076350	missense variant	-	NC_000007.14:g.87515274A>G	gnomAD
ABCB1	P08183	p.Val1080Gly	rs1288076350	missense variant	-	NC_000007.14:g.87515274A>C	gnomAD
ABCB1	P08183	p.Leu1083Val	rs200514028	missense variant	-	NC_000007.14:g.87515266G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu1083Pro	rs755734139	missense variant	-	NC_000007.14:g.87515265A>G	ExAC,gnomAD
ABCB1	P08183	p.Glu1084Gln	rs1403103790	missense variant	-	NC_000007.14:g.87515263C>G	TOPMed
ABCB1	P08183	p.Arg1085Trp	rs199943026	missense variant	-	NC_000007.14:g.87515260G>A	ExAC,gnomAD
ABCB1	P08183	p.Arg1085Gln	rs201765972	missense variant	-	NC_000007.14:g.87515259C>T	ESP,ExAC,gnomAD
ABCB1	P08183	p.Asp1088Asn	rs57521326	missense variant	-	NC_000007.14:g.87515251C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1091Gly	rs1412681422	missense variant	-	NC_000007.14:g.87515241G>C	gnomAD
ABCB1	P08183	p.Lys1093Glu	rs776827328	missense variant	-	NC_000007.14:g.87515236T>C	ExAC,gnomAD
ABCB1	P08183	p.Val1094Met	rs768927661	missense variant	-	NC_000007.14:g.87515233C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp1097Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87509475C>A	NCI-TCGA
ABCB1	P08183	p.Lys1099Glu	rs41309225	missense variant	-	NC_000007.14:g.87509469T>C	ExAC,gnomAD
ABCB1	P08183	p.Lys1099Gln	rs41309225	missense variant	-	NC_000007.14:g.87509469T>G	ExAC,gnomAD
ABCB1	P08183	p.Glu1100Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.87509466C>A	NCI-TCGA
ABCB1	P08183	p.Ile1101Leu	COSM3641905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87509463T>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Arg1103Gln	rs1266372866	missense variant	-	NC_000007.14:g.87509456C>T	gnomAD
ABCB1	P08183	p.Arg1103Ter	rs1470273650	stop gained	-	NC_000007.14:g.87509457G>A	gnomAD
ABCB1	P08183	p.Val1106Ile	rs148897157	missense variant	-	NC_000007.14:g.87509448C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gln1107Pro	rs55852620	missense variant	-	NC_000007.14:g.87509444T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gln1107Pro	rs55852620	missense variant	-	NC_000007.14:g.87509444T>G	UniProt,dbSNP
ABCB1	P08183	p.Gln1107Pro	VAR_015005	missense variant	-	NC_000007.14:g.87509444T>G	UniProt
ABCB1	P08183	p.Gln1107Glu	rs774748307	missense variant	-	NC_000007.14:g.87509445G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Trp1108Arg	rs35730308	missense variant	-	NC_000007.14:g.87509442A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Trp1108Ter	rs1334153891	stop gained	-	NC_000007.14:g.87509441C>T	TOPMed
ABCB1	P08183	p.Leu1109Ile	rs773651038	missense variant	-	NC_000007.14:g.87509439G>T	ExAC,gnomAD
ABCB1	P08183	p.Arg1110Ter	rs1014207158	stop gained	-	NC_000007.14:g.87509436G>A	TOPMed
ABCB1	P08183	p.Arg1110Gln	rs770289924	missense variant	-	NC_000007.14:g.87509435C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1111Thr	rs1293871816	missense variant	-	NC_000007.14:g.87509433C>T	TOPMed,gnomAD
ABCB1	P08183	p.Leu1113Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87509427G>T	NCI-TCGA
ABCB1	P08183	p.Gly1114AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87509423C>-	NCI-TCGA
ABCB1	P08183	p.Gly1114Ser	rs747650743	missense variant	-	NC_000007.14:g.87509424C>T	ExAC,gnomAD
ABCB1	P08183	p.Gly1114Asp	rs1328523726	missense variant	-	NC_000007.14:g.87509423C>T	TOPMed
ABCB1	P08183	p.Ile1115Thr	rs199931681	missense variant	-	NC_000007.14:g.87509420A>G	TOPMed,gnomAD
ABCB1	P08183	p.Ile1115SerHisLysThrSer	NCI-TCGA novel	insertion	-	NC_000007.14:g.87509418_87509419insAGATGTCTTGTGGGA	NCI-TCGA
ABCB1	P08183	p.Ile1115Val	rs1347910274	missense variant	-	NC_000007.14:g.87509421T>C	gnomAD
ABCB1	P08183	p.Val1116Met	rs1389010033	missense variant	-	NC_000007.14:g.87509418C>T	TOPMed,gnomAD
ABCB1	P08183	p.Val1116SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87509418_87509419insAGATGTCTTGTGGGAGA	NCI-TCGA
ABCB1	P08183	p.Pro1120His	rs746677023	missense variant	-	NC_000007.14:g.87509405G>T	ExAC,gnomAD
ABCB1	P08183	p.Ile1121Met	rs1017877229	missense variant	-	NC_000007.14:g.87509401G>C	TOPMed
ABCB1	P08183	p.Leu1122Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87509400G>T	NCI-TCGA
ABCB1	P08183	p.Leu1122Val	rs779984514	missense variant	-	NC_000007.14:g.87509400G>C	ExAC,gnomAD
ABCB1	P08183	p.Asp1124Tyr	rs1253462004	missense variant	-	NC_000007.14:g.87509394C>A	gnomAD
ABCB1	P08183	p.Cys1125Gly	rs758212180	missense variant	-	NC_000007.14:g.87509391A>C	ExAC,gnomAD
ABCB1	P08183	p.Ile1127Val	rs199894992	missense variant	-	NC_000007.14:g.87509385T>C	gnomAD
ABCB1	P08183	p.Glu1129Lys	rs763091787	missense variant	-	NC_000007.14:g.87509379C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn1130Ile	rs765229328	missense variant	-	NC_000007.14:g.87509375T>A	ExAC,gnomAD
ABCB1	P08183	p.Asn1130Ser	rs765229328	missense variant	-	NC_000007.14:g.87509375T>C	ExAC,gnomAD
ABCB1	P08183	p.Tyr1133Cys	rs1314060722	missense variant	-	NC_000007.14:g.87509366T>C	gnomAD
ABCB1	P08183	p.Gly1134Arg	rs767536622	missense variant	-	NC_000007.14:g.87509364C>T	ExAC,gnomAD
ABCB1	P08183	p.Gly1134Ter	rs767536622	stop gained	-	NC_000007.14:g.87509364C>A	ExAC,gnomAD
ABCB1	P08183	p.Asp1135Glu	rs774493186	missense variant	-	NC_000007.14:g.87509359G>T	ExAC,gnomAD
ABCB1	P08183	p.Asn1136Ser	rs766599262	missense variant	-	NC_000007.14:g.87509357T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg1138Trp	rs773597757	missense variant	-	NC_000007.14:g.87509352G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1138Gln	rs200196668	missense variant	-	NC_000007.14:g.87509351C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Arg1138Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87509351C>A	NCI-TCGA
ABCB1	P08183	p.Ser1141Thr	rs2229107	missense variant	-	NC_000007.14:g.87509343A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1144Lys	rs768115578	missense variant	-	NC_000007.14:g.87509334C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1146Met	rs779788253	missense variant	-	NC_000007.14:g.87509328C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1146Leu	rs779788253	missense variant	-	NC_000007.14:g.87509328C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1147Lys	rs1482837611	missense variant	-	NC_000007.14:g.87509324C>T	gnomAD
ABCB1	P08183	p.Ala1148Thr	rs1272689553	missense variant	-	NC_000007.14:g.87509322C>T	gnomAD
ABCB1	P08183	p.Ala1152Ser	rs201520086	missense variant	-	NC_000007.14:g.87509310C>A	ExAC,gnomAD
ABCB1	P08183	p.Ala1152Thr	rs201520086	missense variant	-	NC_000007.14:g.87509310C>T	ExAC,gnomAD
ABCB1	P08183	p.His1155Arg	rs1313948400	missense variant	-	NC_000007.14:g.87509300T>C	TOPMed
ABCB1	P08183	p.Ala1156Gly	rs778901580	missense variant	-	NC_000007.14:g.87509297G>C	ExAC,gnomAD
ABCB1	P08183	p.Ala1156Pro	rs745613481	missense variant	-	NC_000007.14:g.87509298C>G	ExAC,gnomAD
ABCB1	P08183	p.Ile1158Met	rs200703943	missense variant	-	NC_000007.14:g.87509290G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1159Lys	rs781320202	missense variant	-	NC_000007.14:g.87509289C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1159Asp	rs1410153460	missense variant	-	NC_000007.14:g.87509287C>A	TOPMed,gnomAD
ABCB1	P08183	p.Pro1162Thr	rs751662492	missense variant	-	NC_000007.14:g.87509280G>T	ExAC,gnomAD
ABCB1	P08183	p.Asn1163Lys	rs766547835	missense variant	-	NC_000007.14:g.87509275A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn1163Asp	COSM1132923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87509277T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Lys1168Glu	rs59241388	missense variant	-	NC_000007.14:g.87506031T>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1169Ile	rs780152885	missense variant	-	NC_000007.14:g.87506028C>T	ExAC,gnomAD
ABCB1	P08183	p.Gly1173Arg	rs1473237773	missense variant	-	NC_000007.14:g.87506016C>T	gnomAD
ABCB1	P08183	p.Thr1174Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87506012G>A	NCI-TCGA
ABCB1	P08183	p.Gln1175Ter	COSM747743	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.87506010G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser1177Cys	rs1466258029	missense variant	-	NC_000007.14:g.87506003G>C	gnomAD
ABCB1	P08183	p.Ser1177Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87506003G>A	NCI-TCGA
ABCB1	P08183	p.Gly1179Cys	rs1415144759	missense variant	-	NC_000007.14:g.87505998C>A	TOPMed
ABCB1	P08183	p.Gly1179GlyArgArgAspAspCysSerThrTerGluGluLeuCysTerLeuCysPheUnk	rs1295088187	stop gained	-	NC_000007.14:g.87505996_87505997insAAAACAAAGTCAGCACAGCTCTTCTTAAGTACTGCAATCATCTCTTCTT	gnomAD
ABCB1	P08183	p.Arg1183Cys	rs199676098	missense variant	-	NC_000007.14:g.87505986G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1183His	rs754264039	missense variant	-	NC_000007.14:g.87505985C>T	ExAC,gnomAD
ABCB1	P08183	p.Arg1183Ser	rs199676098	missense variant	-	NC_000007.14:g.87505986G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile1184Val	rs1281843123	missense variant	-	NC_000007.14:g.87505983T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ala1185Asp	rs764463583	missense variant	-	NC_000007.14:g.87505979G>T	ExAC,gnomAD
ABCB1	P08183	p.Ala1185Val	COSM3641903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87505979G>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile1186Thr	COSM6110891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87505976A>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Ile1186Val	rs1400860335	missense variant	-	NC_000007.14:g.87505977T>C	TOPMed
ABCB1	P08183	p.Arg1188Gly	rs139820108	missense variant	-	NC_000007.14:g.87505971G>C	ESP,TOPMed
ABCB1	P08183	p.Arg1188Cys	rs139820108	missense variant	-	NC_000007.14:g.87505971G>A	ESP,TOPMed
ABCB1	P08183	p.Arg1188His	rs201530445	missense variant	-	NC_000007.14:g.87505970C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1189Val	rs1378191421	missense variant	-	NC_000007.14:g.87505967G>A	-
ABCB1	P08183	p.Gln1193Arg	rs759250541	missense variant	-	NC_000007.14:g.87505955T>C	ExAC,gnomAD
ABCB1	P08183	p.Pro1194Thr	rs1285942204	missense variant	-	NC_000007.14:g.87505953G>T	TOPMed
ABCB1	P08183	p.His1195Tyr	rs769925505	missense variant	-	NC_000007.14:g.87505950G>A	TOPMed
ABCB1	P08183	p.Ile1196Val	rs1366730591	missense variant	-	NC_000007.14:g.87505947T>C	gnomAD
ABCB1	P08183	p.Leu1198Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87505941G>C	NCI-TCGA
ABCB1	P08183	p.Asp1200His	COSM4834688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87505935C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Thr1203Arg	rs770620028	missense variant	-	NC_000007.14:g.87505925G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1203Met	rs770620028	missense variant	-	NC_000007.14:g.87505925G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1205Thr	rs202030954	missense variant	-	NC_000007.14:g.87505920C>T	gnomAD
ABCB1	P08183	p.Glu1209Lys	rs769592199	missense variant	-	NC_000007.14:g.87505908C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1209Gln	rs769592199	missense variant	-	NC_000007.14:g.87505908C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser1210Arg	COSM1452576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87505905T>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Ser1210Gly	rs1390471469	missense variant	-	NC_000007.14:g.87505905T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ser1210Cys	rs1390471469	missense variant	-	NC_000007.14:g.87505905T>A	TOPMed,gnomAD
ABCB1	P08183	p.Glu1211Ala	rs201111035	missense variant	-	NC_000007.14:g.87505901T>G	ExAC,gnomAD
ABCB1	P08183	p.Lys1212Asn	rs1451623254	missense variant	-	NC_000007.14:g.87505897C>G	gnomAD
ABCB1	P08183	p.Lys1212Thr	rs1029583513	missense variant	-	NC_000007.14:g.87505898T>G	TOPMed
ABCB1	P08183	p.Lys1212Asn	rs1451623254	missense variant	-	NC_000007.14:g.87505897C>A	gnomAD
ABCB1	P08183	p.Val1213Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87504449C>T	NCI-TCGA
ABCB1	P08183	p.Gln1215Arg	COSM259270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87504442T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Glu1216Lys	rs140995435	missense variant	-	NC_000007.14:g.87504440C>T	gnomAD
ABCB1	P08183	p.Ala1221Gly	COSM4844899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87504424G>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Ala1221Pro	rs768613690	missense variant	-	NC_000007.14:g.87504425C>G	ExAC,gnomAD
ABCB1	P08183	p.Arg1222Gly	rs1188387982	missense variant	-	NC_000007.14:g.87504422T>C	gnomAD
ABCB1	P08183	p.Arg1222Thr	rs1344972013	missense variant	-	NC_000007.14:g.87504421C>G	gnomAD
ABCB1	P08183	p.Glu1223Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87504419C>T	NCI-TCGA
ABCB1	P08183	p.Glu1223Asp	rs41309231	missense variant	-	NC_000007.14:g.87504417T>A	TOPMed
ABCB1	P08183	p.Arg1225His	rs779103120	missense variant	-	NC_000007.14:g.87504412C>T	ExAC,gnomAD
ABCB1	P08183	p.Arg1225Cys	rs1281746264	missense variant	-	NC_000007.14:g.87504413G>A	TOPMed,gnomAD
ABCB1	P08183	p.Thr1226Ala	rs1338160384	missense variant	-	NC_000007.14:g.87504410T>C	TOPMed
ABCB1	P08183	p.Ile1228Asn	rs1408243208	missense variant	-	NC_000007.14:g.87504403A>T	gnomAD
ABCB1	P08183	p.Ile1230Val	rs757394498	missense variant	-	NC_000007.14:g.87504398T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg1233Leu	rs201578293	missense variant	-	NC_000007.14:g.87504388C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1233Cys	rs563375387	missense variant	-	NC_000007.14:g.87504389G>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1233His	rs201578293	missense variant	-	NC_000007.14:g.87504388C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1236Ile	rs200637194	missense variant	-	NC_000007.14:g.87504379G>A	gnomAD
ABCB1	P08183	p.Ile1237Val	rs139750664	missense variant	-	NC_000007.14:g.87504377T>C	ESP,ExAC,gnomAD
ABCB1	P08183	p.Gln1238His	rs755563103	missense variant	-	NC_000007.14:g.87504372C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1240Ser	rs201089646	missense variant	-	NC_000007.14:g.87504368C>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Asp1241Glu	rs762504646	missense variant	-	NC_000007.14:g.87504363G>C	ExAC,gnomAD
ABCB1	P08183	p.Asp1241Asn	rs142093374	missense variant	-	NC_000007.14:g.87504365C>T	ESP
ABCB1	P08183	p.Leu1242Phe	rs1210266411	missense variant	-	NC_000007.14:g.87504360T>G	gnomAD
ABCB1	P08183	p.Ile1243Arg	rs1441356731	missense variant	-	NC_000007.14:g.87504358A>C	gnomAD
ABCB1	P08183	p.Val1244Ala	rs772971590	missense variant	-	NC_000007.14:g.87504355A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn1248Lys	rs1230774968	missense variant	-	NC_000007.14:g.87504342A>T	TOPMed,gnomAD
ABCB1	P08183	p.Gly1249Ser	rs1470598507	missense variant	-	NC_000007.14:g.87504341C>T	TOPMed
ABCB1	P08183	p.Arg1250Ile	rs1373455786	missense variant	-	NC_000007.14:g.87504337C>A	gnomAD
ABCB1	P08183	p.Val1251Ile	rs28364274	missense variant	-	NC_000007.14:g.87504335C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys1252Glu	rs1444127505	missense variant	-	NC_000007.14:g.87504332T>C	gnomAD
ABCB1	P08183	p.Lys1252Arg	rs768562415	missense variant	-	NC_000007.14:g.87504331T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1253Gln	rs1303671591	missense variant	-	NC_000007.14:g.87504329C>G	gnomAD
ABCB1	P08183	p.His1254Gln	rs1404008939	missense variant	-	NC_000007.14:g.87504324A>C	TOPMed,gnomAD
ABCB1	P08183	p.His1254Asn	rs1447340915	missense variant	-	NC_000007.14:g.87504326G>T	gnomAD
ABCB1	P08183	p.Gly1255Asp	rs1013586488	missense variant	-	NC_000007.14:g.87504322C>T	TOPMed
ABCB1	P08183	p.Gly1255Val	COSM6110892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87504322C>A	NCI-TCGA Cosmic
ABCB1	P08183	p.Thr1256Met	rs35721439	missense variant	-	NC_000007.14:g.87504319G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1256Lys	rs35721439	missense variant	-	NC_000007.14:g.87504319G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.His1257Tyr	rs771100707	missense variant	-	NC_000007.14:g.87504317G>A	ExAC,gnomAD
ABCB1	P08183	p.His1257AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.87504314_87504318GATGC>-	NCI-TCGA
ABCB1	P08183	p.His1257Arg	rs1044890354	missense variant	-	NC_000007.14:g.87504316T>C	gnomAD
ABCB1	P08183	p.His1257Pro	rs1044890354	missense variant	-	NC_000007.14:g.87504316T>G	gnomAD
ABCB1	P08183	p.Gln1263His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87504297C>A	NCI-TCGA
ABCB1	P08183	p.Gly1265Ser	rs1038514609	missense variant	-	NC_000007.14:g.87504293C>T	TOPMed
ABCB1	P08183	p.Ile1266Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87504290T>A	NCI-TCGA
ABCB1	P08183	p.Ile1266Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87504290T>G	NCI-TCGA
ABCB1	P08183	p.Ile1266Val	rs1283093586	missense variant	-	NC_000007.14:g.87504290T>C	TOPMed
ABCB1	P08183	p.Tyr1267Cys	rs1415447553	missense variant	-	NC_000007.14:g.87504286T>C	gnomAD
ABCB1	P08183	p.Ala1275Ser	rs1321813708	missense variant	-	NC_000007.14:g.87504263C>A	TOPMed
ABCB1	P08183	p.Gly1276Ala	COSM6178509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87504259C>G	NCI-TCGA Cosmic
ABCB1	P08183	p.Thr1277Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87504256G>T	NCI-TCGA
ABCB1	P08183	p.Thr1277Ala	rs777987186	missense variant	-	NC_000007.14:g.87504257T>C	ExAC,gnomAD
ABCB1	P08183	p.Lys1278Glu	COSM3641901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.87504254T>C	NCI-TCGA Cosmic
ABCB1	P08183	p.Arg1279His	rs200263370	missense variant	-	NC_000007.14:g.87504250C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1279Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.87504251G>T	NCI-TCGA
ABCB1	P08183	p.Arg1279Cys	rs137996914	missense variant	-	NC_000007.14:g.87504251G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1279Leu	rs200263370	missense variant	-	NC_000007.14:g.87504250C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gln1280His	rs1214032998	missense variant	-	NC_000007.14:g.87504246C>A	gnomAD
ABCB1	P08183	p.Gln1280Pro	rs202194143	missense variant	-	NC_000007.14:g.87504247T>G	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Asp2Asn	rs1320562631	missense variant	-	NC_000007.14:g.87600181C>T	gnomAD
ABCB1	P08183	p.Gly5Val	rs747238624	missense variant	-	NC_000007.14:g.87600171C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp6His	rs780204251	missense variant	-	NC_000007.14:g.87600169C>G	ExAC,gnomAD
ABCB1	P08183	p.Asp6Tyr	rs780204251	missense variant	-	NC_000007.14:g.87600169C>A	ExAC,gnomAD
ABCB1	P08183	p.Arg7His	rs1429920034	missense variant	-	NC_000007.14:g.87600165C>T	TOPMed
ABCB1	P08183	p.Arg7Cys	rs758755760	missense variant	-	NC_000007.14:g.87600166G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg7Gly	rs758755760	missense variant	-	NC_000007.14:g.87600166G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn8Lys	rs146259092	missense variant	-	NC_000007.14:g.87600161A>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn8Thr	rs1373721748	missense variant	-	NC_000007.14:g.87600162T>G	gnomAD
ABCB1	P08183	p.Gly10Arg	rs1457629148	missense variant	-	NC_000007.14:g.87600157C>T	gnomAD
ABCB1	P08183	p.Gly10Glu	rs1348388210	missense variant	-	NC_000007.14:g.87600156C>T	gnomAD
ABCB1	P08183	p.Lys12Asn	rs1430496324	missense variant	-	NC_000007.14:g.87600149C>G	gnomAD
ABCB1	P08183	p.Lys12Gln	rs779268249	missense variant	-	NC_000007.14:g.87600151T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys14Asn	rs1390637727	missense variant	-	NC_000007.14:g.87600143C>A	gnomAD
ABCB1	P08183	p.Phe17Leu	rs28381804	missense variant	-	NC_000007.14:g.87600136A>G	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe17Ser	rs763540261	missense variant	-	NC_000007.14:g.87600135A>G	ExAC,gnomAD
ABCB1	P08183	p.Phe17Leu	rs760162850	missense variant	-	NC_000007.14:g.87600134A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu19Gln	rs200915526	missense variant	-	NC_000007.14:g.87600129A>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Leu19Val	rs41304191	missense variant	-	NC_000007.14:g.87600130G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn21His	rs9282564	missense variant	-	NC_000007.14:g.87600124T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn21Asp	rs9282564	missense variant	-	NC_000007.14:g.87600124T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn21Tyr	rs9282564	missense variant	-	NC_000007.14:g.87600124T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp26Val	rs754610572	missense variant	-	NC_000007.14:g.87595806T>A	ExAC
ABCB1	P08183	p.Lys27Glu	rs1424498745	missense variant	-	NC_000007.14:g.87595804T>C	TOPMed
ABCB1	P08183	p.Lys27Thr	rs1202446124	missense variant	-	NC_000007.14:g.87595803T>G	gnomAD
ABCB1	P08183	p.Lys28Arg	rs112801674	missense variant	-	NC_000007.14:g.87595800T>C	TOPMed
ABCB1	P08183	p.Lys28Thr	rs112801674	missense variant	-	NC_000007.14:g.87595800T>G	TOPMed
ABCB1	P08183	p.Pro32Arg	rs1257107888	missense variant	-	NC_000007.14:g.87595788G>C	gnomAD
ABCB1	P08183	p.Pro32Thr	rs751270575	missense variant	-	NC_000007.14:g.87595789G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val34Ile	rs533117495	missense variant	-	NC_000007.14:g.87595783C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Ser35Asn	rs934040996	missense variant	-	NC_000007.14:g.87595779C>T	TOPMed,gnomAD
ABCB1	P08183	p.Met39Val	rs201917713	missense variant	-	NC_000007.14:g.87595768T>C	TOPMed
ABCB1	P08183	p.Met39Ile	rs371192766	missense variant	-	NC_000007.14:g.87595766C>T	ESP,ExAC,gnomAD
ABCB1	P08183	p.Arg41His	rs199551851	missense variant	-	NC_000007.14:g.87585676C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg41Cys	rs761584848	missense variant	-	NC_000007.14:g.87585677G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr42Cys	rs201564736	missense variant	-	NC_000007.14:g.87585673T>C	TOPMed
ABCB1	P08183	p.Ser43Ala	rs759680987	missense variant	-	NC_000007.14:g.87585671A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn44Asp	rs774528779	missense variant	-	NC_000007.14:g.87585668T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn44His	rs774528779	missense variant	-	NC_000007.14:g.87585668T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn44Ser	rs1202183	missense variant	-	NC_000007.14:g.87585667T>C	UniProt,dbSNP
ABCB1	P08183	p.Asn44Ser	VAR_055423	missense variant	-	NC_000007.14:g.87585667T>C	UniProt
ABCB1	P08183	p.Asn44Ser	rs1202183	missense variant	-	NC_000007.14:g.87585667T>C	-
ABCB1	P08183	p.Asp47Tyr	rs1250463898	missense variant	-	NC_000007.14:g.87585659C>A	gnomAD
ABCB1	P08183	p.Lys48Asn	rs139583955	missense variant	-	NC_000007.14:g.87585654C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu49Phe	rs192850609	missense variant	-	NC_000007.14:g.87585651C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu49Ser	rs202240722	missense variant	-	NC_000007.14:g.87585652A>G	ExAC,gnomAD
ABCB1	P08183	p.Tyr50Cys	rs537546318	missense variant	-	NC_000007.14:g.87585649T>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met51Thr	rs781755669	missense variant	-	NC_000007.14:g.87585646A>G	ExAC,gnomAD
ABCB1	P08183	p.Thr55Ile	rs1200080064	missense variant	-	NC_000007.14:g.87585634G>A	TOPMed
ABCB1	P08183	p.Leu56Ser	rs1242728976	missense variant	-	NC_000007.14:g.87585631A>G	TOPMed,gnomAD
ABCB1	P08183	p.His61Tyr	rs1435532727	missense variant	-	NC_000007.14:g.87585617G>A	gnomAD
ABCB1	P08183	p.Ala63Thr	rs750056009	missense variant	-	NC_000007.14:g.87585611C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala63Val	rs1388112904	missense variant	-	NC_000007.14:g.87585610G>A	gnomAD
ABCB1	P08183	p.Leu67Phe	rs1169254481	missense variant	-	NC_000007.14:g.87585599G>A	TOPMed
ABCB1	P08183	p.Met68Val	rs865799545	missense variant	-	NC_000007.14:g.87585596T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ile78Asn	rs202150907	missense variant	-	NC_000007.14:g.87585565A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile78Thr	rs202150907	missense variant	-	NC_000007.14:g.87585565A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala80Glu	rs9282565	missense variant	-	NC_000007.14:g.87585559G>T	ExAC,gnomAD
ABCB1	P08183	p.Ala82Val	rs1201503261	missense variant	-	NC_000007.14:g.87585553G>A	gnomAD
ABCB1	P08183	p.Asn84His	rs764061195	missense variant	-	NC_000007.14:g.87585548T>G	ExAC,gnomAD
ABCB1	P08183	p.Asp87Glu	rs1266957400	missense variant	-	NC_000007.14:g.87585537A>T	TOPMed,gnomAD
ABCB1	P08183	p.Leu88Arg	rs1257387920	missense variant	-	NC_000007.14:g.87585535A>C	gnomAD
ABCB1	P08183	p.Met89Lys	rs35810889	missense variant	-	NC_000007.14:g.87585532A>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met89Thr	rs35810889	missense variant	-	NC_000007.14:g.87585532A>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn91Asp	rs1311363553	missense variant	-	NC_000007.14:g.87585527T>C	TOPMed,gnomAD
ABCB1	P08183	p.Asn91Ser	rs751592416	missense variant	-	NC_000007.14:g.87585526T>C	ExAC,gnomAD
ABCB1	P08183	p.Thr93Ile	rs763019957	missense variant	-	NC_000007.14:g.87585520G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn94Lys	rs528004506	missense variant	-	NC_000007.14:g.87585516A>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser96Asn	rs1345523838	missense variant	-	NC_000007.14:g.87570223C>T	gnomAD
ABCB1	P08183	p.Ile98Ser	rs1273859083	missense variant	-	NC_000007.14:g.87570217A>C	gnomAD
ABCB1	P08183	p.Asp100Gly	rs200693386	missense variant	-	NC_000007.14:g.87570211T>C	gnomAD
ABCB1	P08183	p.Thr101Ala	rs1288374568	missense variant	-	NC_000007.14:g.87570209T>C	gnomAD
ABCB1	P08183	p.Gly102Val	rs763159622	missense variant	-	NC_000007.14:g.87570205C>A	ExAC,gnomAD
ABCB1	P08183	p.Gly102Arg	rs199607036	missense variant	-	NC_000007.14:g.87570206C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly102Arg	rs199607036	missense variant	-	NC_000007.14:g.87570206C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe103Leu	VAR_015001	Missense	-	-	UniProt
ABCB1	P08183	p.Phe104Leu	rs750577831	missense variant	-	NC_000007.14:g.87570200A>G	ExAC,gnomAD
ABCB1	P08183	p.Met105Leu	rs765543439	missense variant	-	NC_000007.14:g.87570197T>A	ExAC,gnomAD
ABCB1	P08183	p.Glu108Lys	VAR_018351	Missense	-	-	UniProt
ABCB1	P08183	p.Glu109Lys	rs189559454	missense variant	-	NC_000007.14:g.87570185C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp110Gly	rs201389507	missense variant	-	NC_000007.14:g.87570181T>C	TOPMed,gnomAD
ABCB1	P08183	p.Asp110Asn	rs769142496	missense variant	-	NC_000007.14:g.87570182C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met111Val	rs761202837	missense variant	-	NC_000007.14:g.87570179T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met111Leu	rs761202837	missense variant	-	NC_000007.14:g.87570179T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg113Gly	rs1231090084	missense variant	-	NC_000007.14:g.87570173T>C	gnomAD
ABCB1	P08183	p.Tyr114Phe	rs374713722	missense variant	-	NC_000007.14:g.87566974T>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr114Cys	rs374713722	missense variant	-	NC_000007.14:g.87566974T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr116Cys	rs1366437650	missense variant	-	NC_000007.14:g.87566968T>C	gnomAD
ABCB1	P08183	p.Ser119Asn	rs1428844378	missense variant	-	NC_000007.14:g.87566959C>T	gnomAD
ABCB1	P08183	p.Gly120Glu	rs201352004	missense variant	-	NC_000007.14:g.87566956C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala123Gly	rs759986853	missense variant	-	NC_000007.14:g.87566947G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala123Val	rs759986853	missense variant	-	NC_000007.14:g.87566947G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val125Leu	rs1310242458	missense variant	-	NC_000007.14:g.87566942C>A	TOPMed,gnomAD
ABCB1	P08183	p.Val125Met	rs1310242458	missense variant	-	NC_000007.14:g.87566942C>T	TOPMed,gnomAD
ABCB1	P08183	p.Val127Gly	rs368578071	missense variant	-	NC_000007.14:g.87566935A>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr130His	rs748883796	missense variant	-	NC_000007.14:g.87566927A>G	ExAC,gnomAD
ABCB1	P08183	p.Ile131Val	rs1185744873	missense variant	-	NC_000007.14:g.87566924T>C	gnomAD
ABCB1	P08183	p.Gln132Ter	rs769545558	stop gained	-	NC_000007.14:g.87566921G>A	ExAC,gnomAD
ABCB1	P08183	p.Trp136Ter	rs1248102071	stop gained	-	NC_000007.14:g.87566907C>T	gnomAD
ABCB1	P08183	p.Cys137Ter	rs1410820663	stop gained	-	NC_000007.14:g.87566904G>T	TOPMed,gnomAD
ABCB1	P08183	p.Cys137Phe	rs1432167827	missense variant	-	NC_000007.14:g.87566905C>A	TOPMed
ABCB1	P08183	p.Gly141Val	rs754901302	missense variant	-	NC_000007.14:g.87566893C>A	ExAC,gnomAD
ABCB1	P08183	p.Arg142Lys	rs557338866	missense variant	-	NC_000007.14:g.87566890C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Gln143Arg	rs1046070012	missense variant	-	NC_000007.14:g.87566887T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ile144Thr	rs61607171	missense variant	-	NC_000007.14:g.87566884A>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile144Val	rs1459866086	missense variant	-	NC_000007.14:g.87566885T>C	gnomAD
ABCB1	P08183	p.His145Tyr	rs757337057	missense variant	-	NC_000007.14:g.87566882G>A	ExAC,gnomAD
ABCB1	P08183	p.His145Arg	rs1295245429	missense variant	-	NC_000007.14:g.87566881T>C	TOPMed,gnomAD
ABCB1	P08183	p.Phe151Leu	rs754111890	missense variant	-	NC_000007.14:g.87566864A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe151Ile	rs754111890	missense variant	-	NC_000007.14:g.87566864A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe152Val	rs199924747	missense variant	-	NC_000007.14:g.87566861A>C	TOPMed
ABCB1	P08183	p.Ile155Val	rs149518139	missense variant	-	NC_000007.14:g.87566852T>C	ESP
ABCB1	P08183	p.Met156Ile	rs753065601	missense variant	-	NC_000007.14:g.87566847C>T	ExAC,gnomAD
ABCB1	P08183	p.Met156Leu	rs756530200	missense variant	-	NC_000007.14:g.87566849T>A	ExAC,TOPMed
ABCB1	P08183	p.Arg157Leu	rs202002337	missense variant	-	NC_000007.14:g.87566845C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg157Gln	rs202002337	missense variant	-	NC_000007.14:g.87566845C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg157Ter	rs1363838319	stop gained	-	NC_000007.14:g.87566846G>A	gnomAD
ABCB1	P08183	p.Ile160Met	rs200823786	missense variant	-	NC_000007.14:g.87566835T>C	TOPMed
ABCB1	P08183	p.Gly161Cys	rs1183122171	missense variant	-	NC_000007.14:g.87566834C>A	TOPMed
ABCB1	P08183	p.Trp162Cys	rs1184150141	missense variant	-	NC_000007.14:g.87566829C>A	TOPMed,gnomAD
ABCB1	P08183	p.Phe163Val	rs765901566	missense variant	-	NC_000007.14:g.87566828A>C	ExAC,gnomAD
ABCB1	P08183	p.Val165Gly	rs762489515	missense variant	-	NC_000007.14:g.87566821A>C	ExAC,gnomAD
ABCB1	P08183	p.His166Tyr	rs199509670	missense variant	-	NC_000007.14:g.87566819G>A	TOPMed,gnomAD
ABCB1	P08183	p.Asp167Asn	rs769387998	missense variant	-	NC_000007.14:g.87566816C>T	ExAC,gnomAD
ABCB1	P08183	p.Val168Ile	rs61122623	missense variant	-	NC_000007.14:g.87566813C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val168Ala	rs776417319	missense variant	-	NC_000007.14:g.87566812A>G	ExAC,gnomAD
ABCB1	P08183	p.Thr173Pro	rs200753045	missense variant	-	NC_000007.14:g.87566798T>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg174Ter	rs199808236	stop gained	-	NC_000007.14:g.87566795G>A	ExAC,gnomAD
ABCB1	P08183	p.Arg174Gln	rs201280497	missense variant	-	NC_000007.14:g.87566794C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg174Leu	rs201280497	missense variant	-	NC_000007.14:g.87566794C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu175Phe	rs375817253	missense variant	-	NC_000007.14:g.87566792G>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Val179Ala	rs201302394	missense variant	-	NC_000007.14:g.87566236A>G	1000Genomes
ABCB1	P08183	p.Lys181Met	rs760430324	missense variant	-	NC_000007.14:g.87566230T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys181Arg	rs760430324	missense variant	-	NC_000007.14:g.87566230T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile182Thr	rs1188362511	missense variant	-	NC_000007.14:g.87566227A>G	TOPMed
ABCB1	P08183	p.Asn183Ser	rs60419673	missense variant	-	NC_000007.14:g.87566224T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly185Val	rs1128501	missense variant	-	NC_000007.14:g.87566218C>A	-
ABCB1	P08183	p.Gly185Val	rs1128501	missense variant	-	NC_000007.14:g.87566218C>A	UniProt,dbSNP
ABCB1	P08183	p.Gly185Val	VAR_015002	missense variant	-	NC_000007.14:g.87566218C>A	UniProt
ABCB1	P08183	p.Gly185Val	RCV000014697	missense variant	-	NC_000007.14:g.87566218C>A	ClinVar
ABCB1	P08183	p.Ile186Thr	rs1455450939	missense variant	-	NC_000007.14:g.87566215A>G	TOPMed
ABCB1	P08183	p.Gly187Ser	rs745836011	missense variant	-	NC_000007.14:g.87566213C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp188Glu	rs143782625	missense variant	-	NC_000007.14:g.87566208G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile190Thr	rs1381284304	missense variant	-	NC_000007.14:g.87566203A>G	gnomAD
ABCB1	P08183	p.Phe193Leu	rs770008344	missense variant	-	NC_000007.14:g.87566193G>T	ExAC,gnomAD
ABCB1	P08183	p.Phe193Leu	rs770008344	missense variant	-	NC_000007.14:g.87566193G>C	ExAC,gnomAD
ABCB1	P08183	p.Met197Thr	rs1469108355	missense variant	-	NC_000007.14:g.87566182A>G	gnomAD
ABCB1	P08183	p.Thr199Ala	rs748390713	missense variant	-	NC_000007.14:g.87566177T>C	ExAC,TOPMed
ABCB1	P08183	p.Thr199Ile	rs1403432068	missense variant	-	NC_000007.14:g.87566176G>A	gnomAD
ABCB1	P08183	p.Phe200Leu	rs781337433	missense variant	-	NC_000007.14:g.87566174A>G	ExAC,gnomAD
ABCB1	P08183	p.Ile205Val	rs755346039	missense variant	-	NC_000007.14:g.87566159T>C	ExAC,gnomAD
ABCB1	P08183	p.Val206Ala	rs1331678185	missense variant	-	NC_000007.14:g.87566155A>G	TOPMed
ABCB1	P08183	p.Arg210Cys	rs371995997	missense variant	-	NC_000007.14:g.87566144G>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys213Glu	rs780427778	missense variant	-	NC_000007.14:g.87566135T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala220Thr	rs758834776	missense variant	-	NC_000007.14:g.87566114C>T	ExAC,gnomAD
ABCB1	P08183	p.Ile221Met	rs201669414	missense variant	-	NC_000007.14:g.87566109G>C	TOPMed
ABCB1	P08183	p.Ser222Gly	rs138302009	missense variant	-	NC_000007.14:g.87566108T>C	ESP,TOPMed
ABCB1	P08183	p.Ala229Thr	rs1183298571	missense variant	-	NC_000007.14:g.87566087C>T	TOPMed,gnomAD
ABCB1	P08183	p.Ala229Pro	rs1183298571	missense variant	-	NC_000007.14:g.87566087C>G	TOPMed,gnomAD
ABCB1	P08183	p.Ala230Gly	rs200191280	missense variant	-	NC_000007.14:g.87566083G>C	ExAC,gnomAD
ABCB1	P08183	p.Ala230Ser	rs750938138	missense variant	-	NC_000007.14:g.87566084C>A	ExAC,gnomAD
ABCB1	P08183	p.Val231Leu	rs201649109	missense variant	-	NC_000007.14:g.87566081C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser237Pro	rs747181596	missense variant	-	NC_000007.14:g.87561381A>G	ExAC,gnomAD
ABCB1	P08183	p.Asp241Gly	rs370448121	missense variant	-	NC_000007.14:g.87561368T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala246Val	rs201722148	missense variant	-	NC_000007.14:g.87561353G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr247Cys	rs1214452761	missense variant	-	NC_000007.14:g.87561350T>C	gnomAD
ABCB1	P08183	p.Tyr247His	rs1242341613	missense variant	-	NC_000007.14:g.87561351A>G	gnomAD
ABCB1	P08183	p.Ala248Thr	rs1444836423	missense variant	-	NC_000007.14:g.87561348C>T	gnomAD
ABCB1	P08183	p.Ala250Pro	rs755708192	missense variant	-	NC_000007.14:g.87561342C>G	ExAC,gnomAD
ABCB1	P08183	p.Glu255Asp	rs1313299337	missense variant	-	NC_000007.14:g.87561325T>G	gnomAD
ABCB1	P08183	p.Glu256Lys	rs1216695241	missense variant	-	NC_000007.14:g.87561324C>T	gnomAD
ABCB1	P08183	p.Glu256Gly	rs1362919289	missense variant	-	NC_000007.14:g.87561323T>C	gnomAD
ABCB1	P08183	p.Glu256Ala	rs1362919289	missense variant	-	NC_000007.14:g.87561323T>G	gnomAD
ABCB1	P08183	p.Ile261Val	rs36008564	missense variant	-	NC_000007.14:g.87561309T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile261Val	rs36008564	missense variant	-	NC_000007.14:g.87561309T>C	UniProt,dbSNP
ABCB1	P08183	p.Ile261Val	VAR_055425	missense variant	-	NC_000007.14:g.87561309T>C	UniProt
ABCB1	P08183	p.Ile261Asn	rs1425167192	missense variant	-	NC_000007.14:g.87561308A>T	gnomAD
ABCB1	P08183	p.Arg262Lys	rs202177823	missense variant	-	NC_000007.14:g.87561305C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Arg262Gly	rs1184324936	missense variant	-	NC_000007.14:g.87561306T>C	TOPMed
ABCB1	P08183	p.Thr263Ile	rs1430155491	missense variant	-	NC_000007.14:g.87561302G>A	gnomAD
ABCB1	P08183	p.Ala266Val	rs773259441	missense variant	-	NC_000007.14:g.87561293G>A	ExAC,gnomAD
ABCB1	P08183	p.Lys272Thr	rs764072893	missense variant	-	NC_000007.14:g.87561275T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu273Ter	rs1222604496	stop gained	-	NC_000007.14:g.87561273C>A	gnomAD
ABCB1	P08183	p.Glu273Gly	rs1162562260	missense variant	-	NC_000007.14:g.87561272T>C	TOPMed
ABCB1	P08183	p.Glu275Ter	rs202097303	stop gained	-	NC_000007.14:g.87561267C>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Tyr277Ter	rs1297328873	stop gained	-	NC_000007.14:g.87553929G>T	gnomAD
ABCB1	P08183	p.Asn278Ser	rs767592386	missense variant	-	NC_000007.14:g.87553927T>C	ExAC
ABCB1	P08183	p.Lys285Glu	rs200148661	missense variant	-	NC_000007.14:g.87553907T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile287Val	rs774696910	missense variant	-	NC_000007.14:g.87553901T>C	ExAC,gnomAD
ABCB1	P08183	p.Ile289Val	rs1176774424	missense variant	-	NC_000007.14:g.87553895T>C	gnomAD
ABCB1	P08183	p.Ala292Val	rs771196019	missense variant	-	NC_000007.14:g.87553885G>A	ExAC,gnomAD
ABCB1	P08183	p.Thr294Pro	rs763416526	missense variant	-	NC_000007.14:g.87553880T>G	ExAC,gnomAD
ABCB1	P08183	p.Ser298Phe	rs770289036	missense variant	-	NC_000007.14:g.87553867G>A	ExAC,gnomAD
ABCB1	P08183	p.Ile299Val	rs780790071	missense variant	-	NC_000007.14:g.87553865T>C	ExAC,gnomAD
ABCB1	P08183	p.Gly300Asp	rs768339438	missense variant	-	NC_000007.14:g.87553861C>T	ExAC,gnomAD
ABCB1	P08183	p.Ala302Gly	rs1203320017	missense variant	-	NC_000007.14:g.87553855G>C	gnomAD
ABCB1	P08183	p.Phe303Leu	rs746654940	missense variant	-	NC_000007.14:g.87553853A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu305Pro	rs1262510614	missense variant	-	NC_000007.14:g.87553846A>G	TOPMed,gnomAD
ABCB1	P08183	p.Tyr307His	rs779792612	missense variant	-	NC_000007.14:g.87553841A>G	ExAC,gnomAD
ABCB1	P08183	p.Tyr307Phe	rs200676994	missense variant	-	NC_000007.14:g.87553840T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala311Thr	rs1237664337	missense variant	-	NC_000007.14:g.87553829C>T	TOPMed,gnomAD
ABCB1	P08183	p.Ala313Pro	rs1174023694	missense variant	-	NC_000007.14:g.87553823C>G	TOPMed
ABCB1	P08183	p.Trp315Ter	rs1189919755	stop gained	-	NC_000007.14:g.87553816C>T	gnomAD
ABCB1	P08183	p.Trp315Cys	rs778606266	missense variant	-	NC_000007.14:g.87553815C>A	ExAC,gnomAD
ABCB1	P08183	p.Tyr316Cys	rs934392121	missense variant	-	NC_000007.14:g.87553813T>C	TOPMed
ABCB1	P08183	p.Thr319Asn	rs753790377	missense variant	-	NC_000007.14:g.87553804G>T	ExAC,gnomAD
ABCB1	P08183	p.Thr319Ala	rs1045385582	missense variant	-	NC_000007.14:g.87553805T>C	TOPMed,gnomAD
ABCB1	P08183	p.Leu320Ser	rs1363711355	missense variant	-	NC_000007.14:g.87553801A>G	gnomAD
ABCB1	P08183	p.Leu320Val	rs201444664	missense variant	-	NC_000007.14:g.87553802A>C	gnomAD
ABCB1	P08183	p.Val321Ala	rs1392678819	missense variant	-	NC_000007.14:g.87553798A>G	TOPMed
ABCB1	P08183	p.Val321Ile	rs767576038	missense variant	-	NC_000007.14:g.87553799C>T	ExAC,gnomAD
ABCB1	P08183	p.Leu322Phe	rs573094394	missense variant	-	NC_000007.14:g.87553796G>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr326Cys	rs1330170800	missense variant	-	NC_000007.14:g.87553783T>C	TOPMed
ABCB1	P08183	p.Leu332Arg	rs766673892	missense variant	-	NC_000007.14:g.87553765A>C	ExAC
ABCB1	P08183	p.Ser337Tyr	rs1354050546	missense variant	-	NC_000007.14:g.87550828G>T	gnomAD
ABCB1	P08183	p.Val338Leu	rs773413194	missense variant	-	NC_000007.14:g.87550826C>A	ExAC,gnomAD
ABCB1	P08183	p.Ala342Thr	rs1368324209	missense variant	-	NC_000007.14:g.87550814C>T	TOPMed
ABCB1	P08183	p.Val345Ala	rs761114696	missense variant	-	NC_000007.14:g.87550804A>G	ExAC,gnomAD
ABCB1	P08183	p.Ala348Thr	rs771498736	missense variant	-	NC_000007.14:g.87550796C>T	ExAC
ABCB1	P08183	p.Ile352Thr	rs770682446	missense variant	-	NC_000007.14:g.87550783A>G	ExAC,gnomAD
ABCB1	P08183	p.Ala354Thr	rs200966236	missense variant	-	NC_000007.14:g.87550778C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala356Thr	rs777570345	missense variant	-	NC_000007.14:g.87550772C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala356Glu	rs1168879904	missense variant	-	NC_000007.14:g.87550771G>T	gnomAD
ABCB1	P08183	p.Ala356Ser	rs777570345	missense variant	-	NC_000007.14:g.87550772C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala358Gly	rs1421770056	missense variant	-	NC_000007.14:g.87550765G>C	gnomAD
ABCB1	P08183	p.Arg359Lys	rs1201676452	missense variant	-	NC_000007.14:g.87550762C>T	gnomAD
ABCB1	P08183	p.Gly360Ala	rs199886416	missense variant	-	NC_000007.14:g.87550759C>G	TOPMed,gnomAD
ABCB1	P08183	p.Ala361Thr	rs1308529308	missense variant	-	NC_000007.14:g.87550757C>T	gnomAD
ABCB1	P08183	p.Ala361Val	rs201484093	missense variant	-	NC_000007.14:g.87550756G>A	gnomAD
ABCB1	P08183	p.Ile365Asn	rs1269483312	missense variant	-	NC_000007.14:g.87550744A>T	gnomAD
ABCB1	P08183	p.Phe366Leu	rs200671728	missense variant	-	NC_000007.14:g.87550740G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile369Val	rs199766539	missense variant	-	NC_000007.14:g.87550733T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn371Lys	rs757574551	missense variant	-	NC_000007.14:g.87550725A>T	ExAC,gnomAD
ABCB1	P08183	p.Asn371Tyr	rs765605694	missense variant	-	NC_000007.14:g.87550727T>A	ExAC,TOPMed
ABCB1	P08183	p.Pro373Ala	rs143333791	missense variant	-	NC_000007.14:g.87550575G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser374Asn	rs199578136	missense variant	-	NC_000007.14:g.87550571C>T	ExAC,gnomAD
ABCB1	P08183	p.Ser377Gly	rs754128242	missense variant	-	NC_000007.14:g.87550563T>C	ExAC,gnomAD
ABCB1	P08183	p.Ser377Asn	rs1453587307	missense variant	-	NC_000007.14:g.87550562C>T	gnomAD
ABCB1	P08183	p.Tyr378Cys	rs1394100410	missense variant	-	NC_000007.14:g.87550559T>C	TOPMed
ABCB1	P08183	p.Ser379Leu	rs762322710	missense variant	-	NC_000007.14:g.87550556G>A	ExAC,gnomAD
ABCB1	P08183	p.Ser381Arg	rs753217589	missense variant	-	NC_000007.14:g.87550549A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly382Arg	rs1356023286	missense variant	-	NC_000007.14:g.87550548C>T	TOPMed
ABCB1	P08183	p.Gly382Glu	rs1410043164	missense variant	-	NC_000007.14:g.87550547C>T	gnomAD
ABCB1	P08183	p.His383Asn	rs767962530	missense variant	-	NC_000007.14:g.87550545G>T	ExAC,gnomAD
ABCB1	P08183	p.His383Tyr	rs767962530	missense variant	-	NC_000007.14:g.87550545G>A	ExAC,gnomAD
ABCB1	P08183	p.Asn387Asp	rs751032232	missense variant	-	NC_000007.14:g.87550533T>C	ExAC,gnomAD
ABCB1	P08183	p.Ile388Ser	rs149196148	missense variant	-	NC_000007.14:g.87550529A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu393Lys	rs201346512	missense variant	-	NC_000007.14:g.87550515C>T	ExAC,gnomAD
ABCB1	P08183	p.Glu393Ala	rs200199237	missense variant	-	NC_000007.14:g.87550514T>G	ExAC,gnomAD
ABCB1	P08183	p.Arg395Gly	rs1285534379	missense variant	-	NC_000007.14:g.87550509T>C	gnomAD
ABCB1	P08183	p.Val397Ile	rs761558156	missense variant	-	NC_000007.14:g.87550503C>T	ExAC,gnomAD
ABCB1	P08183	p.His398Leu	rs144933300	missense variant	-	NC_000007.14:g.87550499T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe399Ser	rs1247179537	missense variant	-	NC_000007.14:g.87550496A>G	gnomAD
ABCB1	P08183	p.Ser400Asn	RCV000174262	missense variant	-	NC_000007.14:g.87550493C>T	ClinVar
ABCB1	P08183	p.Ser400Asn	rs2229109	missense variant	-	NC_000007.14:g.87550493C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser400Ile	rs2229109	missense variant	-	NC_000007.14:g.87550493C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser403Tyr	rs746946995	missense variant	-	NC_000007.14:g.87550484G>T	ExAC,gnomAD
ABCB1	P08183	p.Arg404Gln	rs201352027	missense variant	-	NC_000007.14:g.87550481C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu406Lys	rs200870777	missense variant	-	NC_000007.14:g.87550476C>T	ExAC,gnomAD
ABCB1	P08183	p.Val407Phe	rs140214314	missense variant	-	NC_000007.14:g.87550473C>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val407Leu	rs140214314	missense variant	-	NC_000007.14:g.87550473C>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val407Gly	rs777898226	missense variant	-	NC_000007.14:g.87550472A>C	ExAC,gnomAD
ABCB1	P08183	p.Ile409Asn	rs1419793187	missense variant	-	NC_000007.14:g.87550295A>T	gnomAD
ABCB1	P08183	p.Gly412Ser	rs1476587846	missense variant	-	NC_000007.14:g.87550287C>T	gnomAD
ABCB1	P08183	p.Lys416Asn	rs749429338	missense variant	-	NC_000007.14:g.87550273C>G	ExAC,gnomAD
ABCB1	P08183	p.Lys416Arg	rs201491802	missense variant	-	NC_000007.14:g.87550274T>C	gnomAD
ABCB1	P08183	p.Val417Met	rs1364926780	missense variant	-	NC_000007.14:g.87550272C>T	TOPMed
ABCB1	P08183	p.Thr422Met	rs773368293	missense variant	-	NC_000007.14:g.87550256G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val423Leu	rs967941491	missense variant	-	NC_000007.14:g.87550254C>A	TOPMed
ABCB1	P08183	p.Ala424Thr	rs913766377	missense variant	-	NC_000007.14:g.87550251C>T	TOPMed
ABCB1	P08183	p.Gly427Glu	rs1216856095	missense variant	-	NC_000007.14:g.87550241C>T	gnomAD
ABCB1	P08183	p.Asn428Ser	rs952222278	missense variant	-	NC_000007.14:g.87550238T>C	gnomAD
ABCB1	P08183	p.Cys431Trp	rs201462032	missense variant	-	NC_000007.14:g.87550228A>C	ExAC,gnomAD
ABCB1	P08183	p.Lys433Glu	rs201678613	missense variant	-	NC_000007.14:g.87550224T>C	ExAC,gnomAD
ABCB1	P08183	p.Ser434Ile	rs747479750	missense variant	-	NC_000007.14:g.87550220C>A	ExAC
ABCB1	P08183	p.Thr436Ile	rs1291504646	missense variant	-	NC_000007.14:g.87550214G>A	gnomAD
ABCB1	P08183	p.Leu439Pro	rs749859568	missense variant	-	NC_000007.14:g.87550205A>G	ExAC,gnomAD
ABCB1	P08183	p.Met440Ile	rs756800740	missense variant	-	NC_000007.14:g.87550201C>T	ExAC,gnomAD
ABCB1	P08183	p.Met440Val	rs764807184	missense variant	-	NC_000007.14:g.87550203T>C	ExAC,gnomAD
ABCB1	P08183	p.Leu443Phe	rs201725784	missense variant	-	NC_000007.14:g.87550194G>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr447Lys	rs1469116728	missense variant	-	NC_000007.14:g.87550181G>T	TOPMed,gnomAD
ABCB1	P08183	p.Glu448Lys	rs139611979	missense variant	-	NC_000007.14:g.87550179C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met450Thr	rs201987648	missense variant	-	NC_000007.14:g.87550172A>G	TOPMed,gnomAD
ABCB1	P08183	p.Met450Leu	rs1223199758	missense variant	-	NC_000007.14:g.87550173T>A	gnomAD
ABCB1	P08183	p.Met450Arg	rs201987648	missense variant	-	NC_000007.14:g.87550172A>C	TOPMed,gnomAD
ABCB1	P08183	p.Ser452Gly	rs1313046379	missense variant	-	NC_000007.14:g.87550051T>C	gnomAD
ABCB1	P08183	p.Asp454Glu	rs202187982	missense variant	-	NC_000007.14:g.87550043A>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly455Glu	rs752505100	missense variant	-	NC_000007.14:g.87550041C>T	ExAC,gnomAD
ABCB1	P08183	p.Gln456Glu	rs1475629891	missense variant	-	NC_000007.14:g.87550039G>C	TOPMed
ABCB1	P08183	p.Asp457Gly	rs767429416	missense variant	-	NC_000007.14:g.87550035T>C	ExAC,gnomAD
ABCB1	P08183	p.Asp457Asn	rs1181024146	missense variant	-	NC_000007.14:g.87550036C>T	TOPMed
ABCB1	P08183	p.Ile461Val	rs1360458780	missense variant	-	NC_000007.14:g.87550024T>C	gnomAD
ABCB1	P08183	p.Ile461Thr	rs751575002	missense variant	-	NC_000007.14:g.87550023A>G	ExAC,gnomAD
ABCB1	P08183	p.Asn462Lys	rs761999329	missense variant	-	NC_000007.14:g.87550019A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val463Leu	rs559003378	missense variant	-	NC_000007.14:g.87550018C>A	1000Genomes,ExAC
ABCB1	P08183	p.Arg464Ser	rs201178758	missense variant	-	NC_000007.14:g.87550013C>G	ExAC,gnomAD
ABCB1	P08183	p.Arg464Gly	rs768822271	missense variant	-	NC_000007.14:g.87550015T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg464Met	rs760890850	missense variant	-	NC_000007.14:g.87550014C>A	ExAC,gnomAD
ABCB1	P08183	p.Arg467Trp	rs1387356833	missense variant	-	NC_000007.14:g.87550006G>A	TOPMed
ABCB1	P08183	p.Arg467Gln	rs772482084	missense variant	-	NC_000007.14:g.87550005C>T	ExAC,gnomAD
ABCB1	P08183	p.Ile469Val	rs1187188802	missense variant	-	NC_000007.14:g.87550000T>C	gnomAD
ABCB1	P08183	p.Ile470Thr	rs1455168926	missense variant	-	NC_000007.14:g.87549996A>G	TOPMed
ABCB1	P08183	p.Gly471Cys	rs1488572511	missense variant	-	NC_000007.14:g.87549994C>A	gnomAD
ABCB1	P08183	p.Val473Met	rs200183659	missense variant	-	NC_000007.14:g.87549988C>T	ExAC,gnomAD
ABCB1	P08183	p.Val473Leu	rs200183659	missense variant	-	NC_000007.14:g.87549988C>A	ExAC,gnomAD
ABCB1	P08183	p.Glu476Asp	rs1389565545	missense variant	-	NC_000007.14:g.87549977T>G	gnomAD
ABCB1	P08183	p.Pro477Thr	rs779516199	missense variant	-	NC_000007.14:g.87549976G>T	ExAC,gnomAD
ABCB1	P08183	p.Phe480Leu	rs1345375955	missense variant	-	NC_000007.14:g.87549967A>G	TOPMed
ABCB1	P08183	p.Ala481Asp	rs1361374723	missense variant	-	NC_000007.14:g.87549963G>T	gnomAD
ABCB1	P08183	p.Thr482Ile	rs199720786	missense variant	-	NC_000007.14:g.87549960G>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Ile488Val	rs1338355304	missense variant	-	NC_000007.14:g.87549943T>C	gnomAD
ABCB1	P08183	p.Arg489Cys	rs142600685	missense variant	-	NC_000007.14:g.87549940G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg489His	rs750696034	missense variant	-	NC_000007.14:g.87549939C>T	ExAC,gnomAD
ABCB1	P08183	p.Arg489Leu	rs750696034	missense variant	-	NC_000007.14:g.87549939C>A	ExAC,gnomAD
ABCB1	P08183	p.Tyr490Cys	rs781123430	missense variant	-	NC_000007.14:g.87549936T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg492Cys	rs754872565	missense variant	-	NC_000007.14:g.87549931G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg492His	rs199941458	missense variant	-	NC_000007.14:g.87549930C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val495Ile	rs762825426	missense variant	-	NC_000007.14:g.87549922C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met497Val	rs553667487	missense variant	-	NC_000007.14:g.87549916T>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp498Gly	rs760874215	missense variant	-	NC_000007.14:g.87549912T>C	ExAC,gnomAD
ABCB1	P08183	p.Asp498Tyr	rs1171458375	missense variant	-	NC_000007.14:g.87549913C>A	TOPMed,gnomAD
ABCB1	P08183	p.Ile500Thr	rs201761318	missense variant	-	NC_000007.14:g.87549906A>G	ExAC,gnomAD
ABCB1	P08183	p.Lys502Ter	rs1191361542	stop gained	-	NC_000007.14:g.87549901T>A	gnomAD
ABCB1	P08183	p.Val504Leu	rs772393045	missense variant	-	NC_000007.14:g.87549895C>G	ExAC,gnomAD
ABCB1	P08183	p.Glu506Lys	rs759995973	missense variant	-	NC_000007.14:g.87549889C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala507Gly	rs771429713	missense variant	-	NC_000007.14:g.87549885G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala507Val	rs771429713	missense variant	-	NC_000007.14:g.87549885G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn508Ser	rs535338471	missense variant	-	NC_000007.14:g.87549882T>C	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Met514Val	rs148455513	missense variant	-	NC_000007.14:g.87549865T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met514Thr	rs1218688694	missense variant	-	NC_000007.14:g.87549864A>G	gnomAD
ABCB1	P08183	p.His518Gln	rs1275791615	missense variant	-	NC_000007.14:g.87549851A>T	gnomAD
ABCB1	P08183	p.His518Tyr	rs1468184660	missense variant	-	NC_000007.14:g.87549853G>A	TOPMed
ABCB1	P08183	p.Asp521Gly	rs774711495	missense variant	-	NC_000007.14:g.87549511T>C	ExAC,gnomAD
ABCB1	P08183	p.Thr522Ala	rs201159898	missense variant	-	NC_000007.14:g.87549509T>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr522Asn	rs1398389130	missense variant	-	NC_000007.14:g.87549508G>T	gnomAD
ABCB1	P08183	p.Thr522Ser	rs201159898	missense variant	-	NC_000007.14:g.87549509T>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu523Val	rs1324520636	missense variant	-	NC_000007.14:g.87549506G>C	TOPMed
ABCB1	P08183	p.Glu526Asp	rs773925485	missense variant	-	NC_000007.14:g.87549495C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala529Pro	rs769400173	missense variant	-	NC_000007.14:g.87549488C>G	ExAC,gnomAD
ABCB1	P08183	p.Leu531Trp	rs1477018410	missense variant	-	NC_000007.14:g.87549481A>C	TOPMed,gnomAD
ABCB1	P08183	p.Ser532Thr	rs1274564250	missense variant	-	NC_000007.14:g.87549478C>G	TOPMed
ABCB1	P08183	p.Ser532Gly	rs768283170	missense variant	-	NC_000007.14:g.87549479T>C	ExAC,gnomAD
ABCB1	P08183	p.Gly534Val	rs1179026893	missense variant	-	NC_000007.14:g.87549472C>A	gnomAD
ABCB1	P08183	p.Lys536Gln	rs746652079	missense variant	-	NC_000007.14:g.87549467T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg538Ser	rs758194199	missense variant	-	NC_000007.14:g.87549459C>A	ExAC,gnomAD
ABCB1	P08183	p.Ala540Ser	rs201188762	missense variant	-	NC_000007.14:g.87549455C>A	TOPMed,gnomAD
ABCB1	P08183	p.Ala540Thr	rs201188762	missense variant	-	NC_000007.14:g.87549455C>T	TOPMed,gnomAD
ABCB1	P08183	p.Ile541Val	rs1353480925	missense variant	-	NC_000007.14:g.87549452T>C	gnomAD
ABCB1	P08183	p.Ile541Met	rs778869420	missense variant	-	NC_000007.14:g.87549450A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg543Pro	rs1374940464	missense variant	-	NC_000007.14:g.87549445C>G	gnomAD
ABCB1	P08183	p.Arg543His	rs1374940464	missense variant	-	NC_000007.14:g.87549445C>T	gnomAD
ABCB1	P08183	p.Arg543Cys	rs757210054	missense variant	-	NC_000007.14:g.87549446G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala544Val	rs974595753	missense variant	-	NC_000007.14:g.87549442G>A	TOPMed,gnomAD
ABCB1	P08183	p.Ala544Thr	rs202111093	missense variant	-	NC_000007.14:g.87549443C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg547Cys	rs199852575	missense variant	-	NC_000007.14:g.87549434G>A	ExAC,gnomAD
ABCB1	P08183	p.Arg547His	rs763454753	missense variant	-	NC_000007.14:g.87549433C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro549Thr	rs1018838697	missense variant	-	NC_000007.14:g.87549428G>T	gnomAD
ABCB1	P08183	p.Pro549Ser	rs1018838697	missense variant	-	NC_000007.14:g.87549428G>A	gnomAD
ABCB1	P08183	p.Asp555Ala	rs762410817	missense variant	-	NC_000007.14:g.87549409T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp555Gly	rs762410817	missense variant	-	NC_000007.14:g.87549409T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu556Asp	rs1236320337	missense variant	-	NC_000007.14:g.87549405C>G	gnomAD
ABCB1	P08183	p.Ala557Gly	rs371019082	missense variant	-	NC_000007.14:g.87549403G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr558Met	rs370804452	missense variant	-	NC_000007.14:g.87549400G>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Leu561Phe	rs201641803	missense variant	-	NC_000007.14:g.87549390C>A	ExAC,gnomAD
ABCB1	P08183	p.Ser565Asn	rs1177169246	missense variant	-	NC_000007.14:g.87549379C>T	gnomAD
ABCB1	P08183	p.Glu566Lys	rs28381902	missense variant	-	NC_000007.14:g.87549377C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala567Thr	rs1355931317	missense variant	-	NC_000007.14:g.87549374C>T	gnomAD
ABCB1	P08183	p.Val571Met	rs755085099	missense variant	-	NC_000007.14:g.87549362C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp574Val	rs199659428	missense variant	-	NC_000007.14:g.87549352T>A	TOPMed
ABCB1	P08183	p.Asp574Tyr	rs770568187	missense variant	-	NC_000007.14:g.87549353C>A	TOPMed,gnomAD
ABCB1	P08183	p.Asp574Asn	rs770568187	missense variant	-	NC_000007.14:g.87549353C>T	TOPMed,gnomAD
ABCB1	P08183	p.Ala576Pro	rs1423665718	missense variant	-	NC_000007.14:g.87546024C>G	gnomAD
ABCB1	P08183	p.Ala576Gly	rs1169358648	missense variant	-	NC_000007.14:g.87546023G>C	gnomAD
ABCB1	P08183	p.Gly579Cys	rs780182297	missense variant	-	NC_000007.14:g.87546015C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg580Gln	rs202017838	missense variant	-	NC_000007.14:g.87546011C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg580Trp	rs200224345	missense variant	-	NC_000007.14:g.87546012G>A	TOPMed,gnomAD
ABCB1	P08183	p.Arg580Pro	rs202017838	missense variant	-	NC_000007.14:g.87546011C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr581Ser	rs779414215	missense variant	-	NC_000007.14:g.87546008G>C	ExAC,gnomAD
ABCB1	P08183	p.Thr581Ala	rs1375846757	missense variant	-	NC_000007.14:g.87546009T>C	TOPMed
ABCB1	P08183	p.Ile583Thr	rs1458392780	missense variant	-	NC_000007.14:g.87546002A>G	gnomAD
ABCB1	P08183	p.Ile583Val	rs1200702337	missense variant	-	NC_000007.14:g.87546003T>C	TOPMed,gnomAD
ABCB1	P08183	p.Val584Met	rs1257424474	missense variant	-	NC_000007.14:g.87546000C>T	gnomAD
ABCB1	P08183	p.Ala586Thr	rs757734033	missense variant	-	NC_000007.14:g.87545994C>T	ExAC,gnomAD
ABCB1	P08183	p.Arg588Cys	rs201122883	missense variant	-	NC_000007.14:g.87545988G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser590Phe	rs966775931	missense variant	-	NC_000007.14:g.87545981G>A	TOPMed
ABCB1	P08183	p.Thr591Ala	rs764459400	missense variant	-	NC_000007.14:g.87545979T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg593His	rs56107566	missense variant	-	NC_000007.14:g.87545972C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg593Cys	rs28381914	missense variant	-	NC_000007.14:g.87545973G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg593Ser	rs28381914	missense variant	-	NC_000007.14:g.87545973G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn594Lys	rs1280797442	missense variant	-	NC_000007.14:g.87545968A>T	TOPMed
ABCB1	P08183	p.Ala595Thr	rs767030297	missense variant	-	NC_000007.14:g.87545967C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp596Asn	rs759177745	missense variant	-	NC_000007.14:g.87545964C>T	ExAC,gnomAD
ABCB1	P08183	p.Val597Leu	rs199931362	missense variant	-	NC_000007.14:g.87545961C>G	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val597Ile	rs199931362	missense variant	-	NC_000007.14:g.87545961C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala599Thr	rs2235036	missense variant	-	NC_000007.14:g.87545955C>T	UniProt,dbSNP
ABCB1	P08183	p.Ala599Thr	VAR_055426	missense variant	-	NC_000007.14:g.87545955C>T	UniProt
ABCB1	P08183	p.Ala599Thr	rs2235036	missense variant	-	NC_000007.14:g.87545955C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly600Ala	rs748125208	missense variant	-	NC_000007.14:g.87545951C>G	ExAC,gnomAD
ABCB1	P08183	p.Gly600Asp	rs748125208	missense variant	-	NC_000007.14:g.87545951C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp602Asn	rs201365503	missense variant	-	NC_000007.14:g.87545946C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp602Tyr	rs201365503	missense variant	-	NC_000007.14:g.87545946C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp603Tyr	rs746054969	missense variant	-	NC_000007.14:g.87545943C>A	ExAC,gnomAD
ABCB1	P08183	p.Asp603His	rs746054969	missense variant	-	NC_000007.14:g.87545943C>G	ExAC,gnomAD
ABCB1	P08183	p.Asp603Glu	rs757574649	missense variant	-	NC_000007.14:g.87545941A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile606Phe	rs749574370	missense variant	-	NC_000007.14:g.87545934T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile606Leu	rs749574370	missense variant	-	NC_000007.14:g.87545934T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val607Met	rs149359465	missense variant	-	NC_000007.14:g.87545931C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly610Arg	rs1213042982	missense variant	-	NC_000007.14:g.87545922C>T	gnomAD
ABCB1	P08183	p.Asp613Tyr	rs57001392	missense variant	-	NC_000007.14:g.87545913C>A	ExAC,gnomAD
ABCB1	P08183	p.Glu614Asp	rs767011913	missense variant	-	NC_000007.14:g.87545908T>G	ExAC,gnomAD
ABCB1	P08183	p.Leu615Pro	rs1242139767	missense variant	-	NC_000007.14:g.87545906A>G	TOPMed,gnomAD
ABCB1	P08183	p.Leu615Val	rs1277845808	missense variant	-	NC_000007.14:g.87545907G>C	gnomAD
ABCB1	P08183	p.Leu615His	rs1242139767	missense variant	-	NC_000007.14:g.87545906A>T	TOPMed,gnomAD
ABCB1	P08183	p.Met616Lys	rs1308127826	missense variant	-	NC_000007.14:g.87545903A>T	gnomAD
ABCB1	P08183	p.Lys619Glu	rs1435673611	missense variant	-	NC_000007.14:g.87545895T>C	TOPMed
ABCB1	P08183	p.Gly620Asp	rs765970736	missense variant	-	NC_000007.14:g.87545891C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe623Leu	rs772821889	missense variant	-	NC_000007.14:g.87545883A>G	ExAC,gnomAD
ABCB1	P08183	p.Lys624Arg	rs141018820	missense variant	-	NC_000007.14:g.87545879T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr627Pro	rs1160807373	missense variant	-	NC_000007.14:g.87545871T>G	gnomAD
ABCB1	P08183	p.Met628Val	rs1420748687	missense variant	-	NC_000007.14:g.87545868T>C	gnomAD
ABCB1	P08183	p.Ala631Thr	rs1373168864	missense variant	-	NC_000007.14:g.87544996C>T	gnomAD
ABCB1	P08183	p.Asn633Lys	rs1203228011	missense variant	-	NC_000007.14:g.87544988A>T	gnomAD
ABCB1	P08183	p.Val635Ala	rs764906803	missense variant	-	NC_000007.14:g.87544983A>G	ExAC,gnomAD
ABCB1	P08183	p.Glu636Ter	rs1265709861	stop gained	-	NC_000007.14:g.87544981C>A	gnomAD
ABCB1	P08183	p.Glu636Lys	rs1265709861	missense variant	-	NC_000007.14:g.87544981C>T	gnomAD
ABCB1	P08183	p.Glu638Ala	rs1480244258	missense variant	-	NC_000007.14:g.87544974T>G	TOPMed
ABCB1	P08183	p.Ala641Gly	rs748496246	missense variant	-	NC_000007.14:g.87544965G>C	ExAC,gnomAD
ABCB1	P08183	p.Asp642Val	rs201352373	missense variant	-	NC_000007.14:g.87544962T>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Ser646Ile	rs528939709	missense variant	-	NC_000007.14:g.87544950C>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Glu647Lys	rs771100656	missense variant	-	NC_000007.14:g.87544948C>T	ExAC,gnomAD
ABCB1	P08183	p.Ile648Thr	rs773525613	missense variant	-	NC_000007.14:g.87544944A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile648Val	rs1415499957	missense variant	-	NC_000007.14:g.87544945T>C	gnomAD
ABCB1	P08183	p.Ile648Ser	rs773525613	missense variant	-	NC_000007.14:g.87544944A>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp649Asn	rs1391697654	missense variant	-	NC_000007.14:g.87544942C>T	gnomAD
ABCB1	P08183	p.Ala650Gly	rs200378616	missense variant	-	NC_000007.14:g.87544938G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala650Asp	rs200378616	missense variant	-	NC_000007.14:g.87544938G>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser654Pro	rs1402478835	missense variant	-	NC_000007.14:g.87544927A>G	gnomAD
ABCB1	P08183	p.Ser655Pro	rs1171481420	missense variant	-	NC_000007.14:g.87544924A>G	TOPMed,gnomAD
ABCB1	P08183	p.Asn656Lys	rs1478102663	missense variant	-	NC_000007.14:g.87544919A>C	gnomAD
ABCB1	P08183	p.Asp657Tyr	rs1372487776	missense variant	-	NC_000007.14:g.87544918C>A	gnomAD
ABCB1	P08183	p.Asp657Glu	rs1434727302	missense variant	-	NC_000007.14:g.87544916A>C	gnomAD
ABCB1	P08183	p.Asp657Gly	rs781571880	missense variant	-	NC_000007.14:g.87544917T>C	ExAC,gnomAD
ABCB1	P08183	p.Ser661Asn	rs769089888	missense variant	-	NC_000007.14:g.87544905C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu662Arg	rs35657960	missense variant	-	NC_000007.14:g.87544902A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys665Gln	rs145840638	missense variant	-	NC_000007.14:g.87544894T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg666Ile	rs750020655	missense variant	-	NC_000007.14:g.87544890C>A	ExAC,gnomAD
ABCB1	P08183	p.Thr668Ala	rs778576220	missense variant	-	NC_000007.14:g.87544885T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg669His	rs146703713	missense variant	-	NC_000007.14:g.87544881C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg669Cys	rs35023033	missense variant	-	NC_000007.14:g.87544882G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg669Leu	rs146703713	missense variant	-	NC_000007.14:g.87544881C>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg669Ser	rs35023033	missense variant	-	NC_000007.14:g.87544882G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg670Lys	rs201298259	missense variant	-	NC_000007.14:g.87544878C>T	ExAC,gnomAD
ABCB1	P08183	p.Ser671Arg	rs766339610	missense variant	-	NC_000007.14:g.87544874A>C	ExAC,gnomAD
ABCB1	P08183	p.Ser671Arg	rs983438430	missense variant	-	NC_000007.14:g.87544876T>G	gnomAD
ABCB1	P08183	p.Ser671Asn	rs200178485	missense variant	-	NC_000007.14:g.87544875C>T	gnomAD
ABCB1	P08183	p.Arg673Cys	rs200859389	missense variant	-	NC_000007.14:g.87544870G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg673His	rs184290374	missense variant	-	NC_000007.14:g.87544869C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Asp679His	rs952145392	missense variant	-	NC_000007.14:g.87544852C>G	gnomAD
ABCB1	P08183	p.Asp679Glu	rs59340265	missense variant	-	NC_000007.14:g.87544850G>C	ExAC,gnomAD
ABCB1	P08183	p.Arg680Gly	rs201355162	missense variant	-	NC_000007.14:g.87544849T>C	TOPMed
ABCB1	P08183	p.Leu682Val	rs1323794979	missense variant	-	NC_000007.14:g.87544843G>C	TOPMed,gnomAD
ABCB1	P08183	p.Leu682Phe	rs1323794979	missense variant	-	NC_000007.14:g.87544843G>A	TOPMed,gnomAD
ABCB1	P08183	p.Thr684Asn	rs1027717457	missense variant	-	NC_000007.14:g.87544836G>T	TOPMed,gnomAD
ABCB1	P08183	p.Thr684Ile	rs1027717457	missense variant	-	NC_000007.14:g.87544836G>A	TOPMed,gnomAD
ABCB1	P08183	p.Ala687Val	rs1271391029	missense variant	-	NC_000007.14:g.87544827G>A	TOPMed
ABCB1	P08183	p.Ala687Pro	rs1043070641	missense variant	-	NC_000007.14:g.87544828C>G	TOPMed
ABCB1	P08183	p.Asp689Gly	rs1189101528	missense variant	-	NC_000007.14:g.87544274T>C	gnomAD
ABCB1	P08183	p.Glu690Lys	rs921088140	missense variant	-	NC_000007.14:g.87544272C>T	TOPMed
ABCB1	P08183	p.Ile692Val	rs764417353	missense variant	-	NC_000007.14:g.87544266T>C	ExAC,gnomAD
ABCB1	P08183	p.Pro694Leu	rs760977802	missense variant	-	NC_000007.14:g.87544259G>A	ExAC,gnomAD
ABCB1	P08183	p.Met701Val	rs772563512	missense variant	-	NC_000007.14:g.87544239T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr706Asn	rs773899676	missense variant	-	NC_000007.14:g.87544223G>T	ExAC,gnomAD
ABCB1	P08183	p.Trp708Cys	rs1331432775	missense variant	-	NC_000007.14:g.87544216C>A	TOPMed
ABCB1	P08183	p.Val712Ala	rs1226611649	missense variant	-	NC_000007.14:g.87544205A>G	TOPMed
ABCB1	P08183	p.Val713Gly	rs576829142	missense variant	-	NC_000007.14:g.87544202A>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val713Ile	rs1286029307	missense variant	-	NC_000007.14:g.87544203C>T	gnomAD
ABCB1	P08183	p.Gly714Ala	rs748919574	missense variant	-	NC_000007.14:g.87544199C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Phe716Leu	rs1205336910	missense variant	-	NC_000007.14:g.87544194A>G	TOPMed
ABCB1	P08183	p.Ile720Val	rs1020594116	missense variant	-	NC_000007.14:g.87544182T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ile720Leu	rs1020594116	missense variant	-	NC_000007.14:g.87544182T>A	TOPMed,gnomAD
ABCB1	P08183	p.Asn721Ser	rs1298586570	missense variant	-	NC_000007.14:g.87544178T>C	TOPMed,gnomAD
ABCB1	P08183	p.Gln725Arg	rs755856690	missense variant	-	NC_000007.14:g.87544166T>C	ExAC,gnomAD
ABCB1	P08183	p.Ala727Val	rs780857986	missense variant	-	NC_000007.14:g.87544160G>A	ExAC,gnomAD
ABCB1	P08183	p.Ile731Met	rs1419673180	missense variant	-	NC_000007.14:g.87544147T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ile735Val	rs1392639104	missense variant	-	NC_000007.14:g.87544137T>C	TOPMed
ABCB1	P08183	p.Ile736Leu	rs200519232	missense variant	-	NC_000007.14:g.87544134T>G	gnomAD
ABCB1	P08183	p.Val738Ile	rs1296251129	missense variant	-	NC_000007.14:g.87541464C>T	gnomAD
ABCB1	P08183	p.Thr740Ile	rs769508094	missense variant	-	NC_000007.14:g.87541457G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg741Ile	rs1359542599	missense variant	-	NC_000007.14:g.87541454C>A	TOPMed,gnomAD
ABCB1	P08183	p.Asp744Glu	rs747772100	missense variant	-	NC_000007.14:g.87541444A>T	ExAC,gnomAD
ABCB1	P08183	p.Arg749Leu	rs754765644	missense variant	-	NC_000007.14:g.87541430C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg749Gln	rs754765644	missense variant	-	NC_000007.14:g.87541430C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg749Ter	rs1323297861	stop gained	-	NC_000007.14:g.87541431G>A	gnomAD
ABCB1	P08183	p.Asn753Asp	rs200152744	missense variant	-	NC_000007.14:g.87541419T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu754Phe	rs1408739324	missense variant	-	NC_000007.14:g.87541414C>A	TOPMed,gnomAD
ABCB1	P08183	p.Leu754Trp	rs1271272875	missense variant	-	NC_000007.14:g.87541415A>C	TOPMed
ABCB1	P08183	p.Leu757Pro	rs975854106	missense variant	-	NC_000007.14:g.87541406A>G	TOPMed,gnomAD
ABCB1	P08183	p.Leu758Ter	rs1453981427	stop gained	-	NC_000007.14:g.87541403A>T	gnomAD
ABCB1	P08183	p.Phe759Val	rs375295612	missense variant	-	NC_000007.14:g.87541401A>C	ESP,TOPMed
ABCB1	P08183	p.Leu760Val	rs1251424548	missense variant	-	NC_000007.14:g.87541398G>C	gnomAD
ABCB1	P08183	p.Ile765Val	rs779916152	missense variant	-	NC_000007.14:g.87541383T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile768Val	rs149038363	missense variant	-	NC_000007.14:g.87541374T>C	ESP,TOPMed,gnomAD
ABCB1	P08183	p.Thr769Ala	rs1250849808	missense variant	-	NC_000007.14:g.87541371T>C	gnomAD
ABCB1	P08183	p.Leu772His	rs753847579	missense variant	-	NC_000007.14:g.87541361A>T	ExAC,gnomAD
ABCB1	P08183	p.Gly774Arg	rs199564535	missense variant	-	NC_000007.14:g.87539345C>G	ExAC,gnomAD
ABCB1	P08183	p.Thr776Lys	rs372521819	missense variant	-	NC_000007.14:g.87539338G>T	ESP
ABCB1	P08183	p.Phe777Leu	rs1381927860	missense variant	-	NC_000007.14:g.87539334A>C	gnomAD
ABCB1	P08183	p.Lys779Glu	rs1369989041	missense variant	-	NC_000007.14:g.87539330T>C	TOPMed
ABCB1	P08183	p.Thr785Ser	rs1220754414	missense variant	-	NC_000007.14:g.87539311G>C	TOPMed
ABCB1	P08183	p.Arg787Trp	rs200903110	missense variant	-	NC_000007.14:g.87539306G>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Arg789Gln	rs199779996	missense variant	-	NC_000007.14:g.87539299C>T	-
ABCB1	P08183	p.Arg789Ter	rs1373964332	stop gained	-	NC_000007.14:g.87539300G>A	gnomAD
ABCB1	P08183	p.Met791Thr	rs201661522	missense variant	-	NC_000007.14:g.87539293A>G	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met791Val	rs756188258	missense variant	-	NC_000007.14:g.87539294T>C	ExAC,gnomAD
ABCB1	P08183	p.Val792Ile	rs1216670269	missense variant	-	NC_000007.14:g.87539291C>T	TOPMed
ABCB1	P08183	p.Arg794Gln	rs201249149	missense variant	-	NC_000007.14:g.87539284C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg794Leu	rs201249149	missense variant	-	NC_000007.14:g.87539284C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser795Cys	rs201418528	missense variant	-	NC_000007.14:g.87539281G>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser795Thr	rs766867299	missense variant	-	NC_000007.14:g.87539282A>T	ExAC,gnomAD
ABCB1	P08183	p.Ser795Pro	rs766867299	missense variant	-	NC_000007.14:g.87539282A>G	ExAC,gnomAD
ABCB1	P08183	p.Leu797Ile	rs751041906	missense variant	-	NC_000007.14:g.87539276G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp800Glu	rs201142514	missense variant	-	NC_000007.14:g.87536539A>T	ExAC,gnomAD
ABCB1	P08183	p.Val801Met	rs2235039	missense variant	-	NC_000007.14:g.87536538C>T	-
ABCB1	P08183	p.Val801Met	rs2235039	missense variant	-	NC_000007.14:g.87536538C>T	UniProt,dbSNP
ABCB1	P08183	p.Val801Met	VAR_055428	missense variant	-	NC_000007.14:g.87536538C>T	UniProt
ABCB1	P08183	p.Gly812Arg	rs764059820	missense variant	-	NC_000007.14:g.87536505C>T	TOPMed
ABCB1	P08183	p.Ala813Val	rs201744003	missense variant	-	NC_000007.14:g.87536501G>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala813Gly	rs201744003	missense variant	-	NC_000007.14:g.87536501G>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala819Ser	rs200754866	missense variant	-	NC_000007.14:g.87536484C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala819Thr	rs200754866	missense variant	-	NC_000007.14:g.87536484C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp821Gly	rs1334428451	missense variant	-	NC_000007.14:g.87536477T>C	TOPMed
ABCB1	P08183	p.Ala823Thr	rs1289543302	missense variant	-	NC_000007.14:g.87536472C>T	TOPMed
ABCB1	P08183	p.Gly827Glu	rs1455293604	missense variant	-	NC_000007.14:g.87536459C>T	gnomAD
ABCB1	P08183	p.Ile829Val	rs2032581	missense variant	-	NC_000007.14:g.87531494T>C	gnomAD
ABCB1	P08183	p.Ile829Val	rs2032581	missense variant	-	NC_000007.14:g.87531494T>C	UniProt,dbSNP
ABCB1	P08183	p.Ile829Val	VAR_055429	missense variant	-	NC_000007.14:g.87531494T>C	UniProt
ABCB1	P08183	p.Gly830Val	rs767089531	missense variant	-	NC_000007.14:g.87531490C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly830Asp	rs767089531	missense variant	-	NC_000007.14:g.87531490C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly830Ser	rs1199081702	missense variant	-	NC_000007.14:g.87531491C>T	TOPMed
ABCB1	P08183	p.Leu833Phe	rs1280076381	missense variant	-	NC_000007.14:g.87531482G>A	TOPMed,gnomAD
ABCB1	P08183	p.Leu833Val	rs1280076381	missense variant	-	NC_000007.14:g.87531482G>C	TOPMed,gnomAD
ABCB1	P08183	p.Ile836Val	rs28381967	missense variant	-	NC_000007.14:g.87531473T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr837Ala	rs762765487	missense variant	-	NC_000007.14:g.87531470T>C	ExAC,gnomAD
ABCB1	P08183	p.Asn839Ser	rs773262840	missense variant	-	NC_000007.14:g.87531463T>C	ExAC,gnomAD
ABCB1	P08183	p.Asn839Thr	rs773262840	missense variant	-	NC_000007.14:g.87531463T>G	ExAC,gnomAD
ABCB1	P08183	p.Ala841Glu	rs1416566507	missense variant	-	NC_000007.14:g.87531457G>T	gnomAD
ABCB1	P08183	p.Gly846Arg	rs1191107366	missense variant	-	NC_000007.14:g.87531443C>T	TOPMed
ABCB1	P08183	p.Gly846Glu	rs773175021	missense variant	-	NC_000007.14:g.87531442C>T	gnomAD
ABCB1	P08183	p.Ile847Val	rs1432480917	missense variant	-	NC_000007.14:g.87531440T>C	gnomAD
ABCB1	P08183	p.Ile849Met	rs36105130	missense variant	-	NC_000007.14:g.87531432T>C	-
ABCB1	P08183	p.Phe851Tyr	rs1158620384	missense variant	-	NC_000007.14:g.87531427A>T	gnomAD
ABCB1	P08183	p.Ile852Met	rs747022752	missense variant	-	NC_000007.14:g.87531423G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr853Asn	rs557586335	missense variant	-	NC_000007.14:g.87531422A>T	1000Genomes
ABCB1	P08183	p.Tyr853Cys	rs371274259	missense variant	-	NC_000007.14:g.87531421T>C	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Trp855Ter	rs746152564	stop gained	-	NC_000007.14:g.87531415C>T	ExAC,gnomAD
ABCB1	P08183	p.Leu861Pro	rs1000911090	missense variant	-	NC_000007.14:g.87531397A>G	TOPMed
ABCB1	P08183	p.Leu862Ser	rs1295312177	missense variant	-	NC_000007.14:g.87531394A>G	TOPMed
ABCB1	P08183	p.Ile864Thr	rs749745819	missense variant	-	NC_000007.14:g.87531388A>G	ExAC,gnomAD
ABCB1	P08183	p.Ile864Val	rs539556127	missense variant	-	NC_000007.14:g.87531389T>C	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Pro866Ser	rs778283893	missense variant	-	NC_000007.14:g.87531383G>A	ExAC
ABCB1	P08183	p.Ile867Met	rs1380560733	missense variant	-	NC_000007.14:g.87531378G>C	TOPMed
ABCB1	P08183	p.Val874Ala	rs565619660	missense variant	-	NC_000007.14:g.87531358A>G	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Met878Leu	rs1356091019	missense variant	-	NC_000007.14:g.87531347T>A	gnomAD
ABCB1	P08183	p.Gln882Glu	rs1325417202	missense variant	-	NC_000007.14:g.87531335G>C	gnomAD
ABCB1	P08183	p.Ala883Thr	rs147823195	missense variant	-	NC_000007.14:g.87531332C>T	ESP,ExAC,gnomAD
ABCB1	P08183	p.Ala883Ser	rs147823195	missense variant	-	NC_000007.14:g.87531332C>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Leu884Pro	rs375296280	missense variant	-	NC_000007.14:g.87531328A>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asp886Asn	rs1292455657	missense variant	-	NC_000007.14:g.87531323C>T	TOPMed
ABCB1	P08183	p.Lys887Asn	VAR_035737	Missense	-	-	UniProt
ABCB1	P08183	p.Ser893Ala	RCV000211207	missense variant	-	NC_000007.14:g.87531302A>C	ClinVar
ABCB1	P08183	p.Ser893Thr	RCV000429867	missense variant	Ovarian Neoplasms	NC_000007.14:g.87531302A>T	ClinVar
ABCB1	P08183	p.Ser893Ala	RCV000211425	missense variant	-	NC_000007.14:g.87531302A>C	ClinVar
ABCB1	P08183	p.Ser893Thr	rs2032582	missense variant	-	NC_000007.14:g.87531302A>T	UniProt,dbSNP
ABCB1	P08183	p.Ser893Thr	VAR_013362	missense variant	-	NC_000007.14:g.87531302A>T	UniProt
ABCB1	P08183	p.Ser893Thr	rs2032582	missense variant	-	NC_000007.14:g.87531302A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser893Ala	rs2032582	missense variant	-	NC_000007.14:g.87531302A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser893Ala	rs2032582	missense variant	-	NC_000007.14:g.87531302A>C	UniProt,dbSNP
ABCB1	P08183	p.Ser893Ala	VAR_013361	missense variant	-	NC_000007.14:g.87531302A>C	UniProt
ABCB1	P08183	p.Gly894Arg	rs772319458	missense variant	-	NC_000007.14:g.87531299C>T	ExAC,gnomAD
ABCB1	P08183	p.Ile896Met	rs532094830	missense variant	-	NC_000007.14:g.87520874G>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile896Asn	rs1219195402	missense variant	-	NC_000007.14:g.87520875A>T	gnomAD
ABCB1	P08183	p.Ala897Thr	rs147487745	missense variant	-	NC_000007.14:g.87520873C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr898Ala	rs767693167	missense variant	-	NC_000007.14:g.87520870T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala900Thr	rs138472105	missense variant	-	NC_000007.14:g.87520864C>T	1000Genomes,gnomAD
ABCB1	P08183	p.Ile901Thr	rs1305120399	missense variant	-	NC_000007.14:g.87520860A>G	TOPMed,gnomAD
ABCB1	P08183	p.Ile901Met	rs1441208915	missense variant	-	NC_000007.14:g.87520859T>C	gnomAD
ABCB1	P08183	p.Phe904Ser	rs1244089186	missense variant	-	NC_000007.14:g.87520851A>G	TOPMed
ABCB1	P08183	p.Arg905Gln	rs774299788	missense variant	-	NC_000007.14:g.87520848C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg905Ter	rs759603974	stop gained	-	NC_000007.14:g.87520849G>A	ExAC,gnomAD
ABCB1	P08183	p.Val907Phe	rs573245329	missense variant	-	NC_000007.14:g.87520843C>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val907Ile	rs573245329	missense variant	-	NC_000007.14:g.87520843C>T	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu913Lys	rs773542500	missense variant	-	NC_000007.14:g.87520825C>T	ExAC,gnomAD
ABCB1	P08183	p.Lys915Thr	rs1234949048	missense variant	-	NC_000007.14:g.87520818T>G	gnomAD
ABCB1	P08183	p.Lys915Asn	rs770181793	missense variant	-	NC_000007.14:g.87520817C>A	ExAC,gnomAD
ABCB1	P08183	p.His918Tyr	rs748646739	missense variant	-	NC_000007.14:g.87520810G>A	ExAC,gnomAD
ABCB1	P08183	p.Met919Thr	rs201740660	missense variant	-	NC_000007.14:g.87520806A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met919Lys	rs201740660	missense variant	-	NC_000007.14:g.87520806A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser923Asn	rs377518806	missense variant	-	NC_000007.14:g.87520794C>T	ESP,gnomAD
ABCB1	P08183	p.Ser923Arg	rs1481562306	missense variant	-	NC_000007.14:g.87520793A>T	gnomAD
ABCB1	P08183	p.Ser923Ile	rs377518806	missense variant	-	NC_000007.14:g.87520794C>A	ESP,gnomAD
ABCB1	P08183	p.Gln925Lys	rs746491990	missense variant	-	NC_000007.14:g.87520789G>T	ExAC,gnomAD
ABCB1	P08183	p.Val926Leu	rs201316099	missense variant	-	NC_000007.14:g.87520786C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val926Ile	rs201316099	missense variant	-	NC_000007.14:g.87520786C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr928Ser	rs148718120	missense variant	-	NC_000007.14:g.87520779T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn930His	rs1233953132	missense variant	-	NC_000007.14:g.87519465T>G	gnomAD
ABCB1	P08183	p.Leu932Ser	rs749050513	missense variant	-	NC_000007.14:g.87519458A>G	ExAC,gnomAD
ABCB1	P08183	p.Lys934Arg	rs1290803512	missense variant	-	NC_000007.14:g.87519452T>C	gnomAD
ABCB1	P08183	p.Ile937Leu	rs200811596	missense variant	-	NC_000007.14:g.87519444T>G	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Gly939Arg	rs1157098297	missense variant	-	NC_000007.14:g.87519438C>T	gnomAD
ABCB1	P08183	p.Thr941Ile	rs1455566610	missense variant	-	NC_000007.14:g.87519431G>A	TOPMed,gnomAD
ABCB1	P08183	p.Phe944Ser	rs1489594324	missense variant	-	NC_000007.14:g.87519422A>G	TOPMed
ABCB1	P08183	p.Thr945Ile	rs766473800	missense variant	-	NC_000007.14:g.87519419G>A	ExAC,gnomAD
ABCB1	P08183	p.Ala947Ser	rs750510915	missense variant	-	NC_000007.14:g.87519414C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met948Val	rs1253848627	missense variant	-	NC_000007.14:g.87519411T>C	gnomAD
ABCB1	P08183	p.Met948Thr	rs765372820	missense variant	-	NC_000007.14:g.87519410A>G	ExAC,gnomAD
ABCB1	P08183	p.Tyr950Cys	rs1486026524	missense variant	-	NC_000007.14:g.87519404T>C	gnomAD
ABCB1	P08183	p.Ser952Thr	rs1259613365	missense variant	-	NC_000007.14:g.87519399A>T	gnomAD
ABCB1	P08183	p.Tyr953His	rs371370057	missense variant	-	NC_000007.14:g.87519396A>G	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Tyr953Cys	rs764408569	missense variant	-	NC_000007.14:g.87519395T>C	ExAC,gnomAD
ABCB1	P08183	p.Cys956Tyr	rs201357626	missense variant	-	NC_000007.14:g.87519386C>T	gnomAD
ABCB1	P08183	p.Arg958Trp	rs200280095	missense variant	-	NC_000007.14:g.87519381G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg958Gln	rs144369247	missense variant	-	NC_000007.14:g.87519380C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu963Phe	rs759050765	missense variant	-	NC_000007.14:g.87519364C>A	ExAC,gnomAD
ABCB1	P08183	p.Leu963Ser	rs1395355925	missense variant	-	NC_000007.14:g.87519365A>G	gnomAD
ABCB1	P08183	p.Val964Met	rs1457360738	missense variant	-	NC_000007.14:g.87519363C>T	TOPMed,gnomAD
ABCB1	P08183	p.Glu972Lys	rs770657790	missense variant	-	NC_000007.14:g.87519339C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp973Tyr	rs748995428	missense variant	-	NC_000007.14:g.87519336C>A	ExAC,gnomAD
ABCB1	P08183	p.Asp973Asn	rs748995428	missense variant	-	NC_000007.14:g.87519336C>T	ExAC,gnomAD
ABCB1	P08183	p.Asp973Ala	rs149638669	missense variant	-	NC_000007.14:g.87519335T>G	ESP,gnomAD
ABCB1	P08183	p.Val974Ile	rs777591929	missense variant	-	NC_000007.14:g.87519333C>T	ExAC,gnomAD
ABCB1	P08183	p.Phe978Ile	rs781068922	missense variant	-	NC_000007.14:g.87516661A>T	ExAC,gnomAD
ABCB1	P08183	p.Ala980Pro	rs572038993	missense variant	-	NC_000007.14:g.87516655C>G	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Phe983Leu	rs746992715	missense variant	-	NC_000007.14:g.87516646A>G	ExAC,gnomAD
ABCB1	P08183	p.Phe983Ser	rs1441051651	missense variant	-	NC_000007.14:g.87516645A>G	TOPMed
ABCB1	P08183	p.Ala985Gly	rs1306027704	missense variant	-	NC_000007.14:g.87516639G>C	gnomAD
ABCB1	P08183	p.Met986Thr	rs1269015981	missense variant	-	NC_000007.14:g.87516636A>G	TOPMed
ABCB1	P08183	p.Met986Ile	rs778961519	missense variant	-	NC_000007.14:g.87516635C>T	ExAC,gnomAD
ABCB1	P08183	p.Ala987Val	rs1359447217	missense variant	-	NC_000007.14:g.87516633G>A	TOPMed
ABCB1	P08183	p.Val988Met	rs753967146	missense variant	-	NC_000007.14:g.87516631C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly989Val	rs374210543	missense variant	-	NC_000007.14:g.87516627C>A	ESP,ExAC,gnomAD
ABCB1	P08183	p.Ser992Asn	rs56849127	missense variant	-	NC_000007.14:g.87516618C>T	gnomAD
ABCB1	P08183	p.Ser992Ile	rs56849127	missense variant	-	NC_000007.14:g.87516618C>A	gnomAD
ABCB1	P08183	p.Tyr998Ser	rs756391728	missense variant	-	NC_000007.14:g.87516600T>G	ExAC,gnomAD
ABCB1	P08183	p.Ala999Thr	rs72552784	missense variant	-	NC_000007.14:g.87516598C>T	TOPMed
ABCB1	P08183	p.Ala999Thr	rs72552784	missense variant	-	NC_000007.14:g.87516598C>T	UniProt,dbSNP
ABCB1	P08183	p.Ala999Thr	VAR_015004	missense variant	-	NC_000007.14:g.87516598C>T	UniProt
ABCB1	P08183	p.Ala999Ser	rs72552784	missense variant	-	NC_000007.14:g.87516598C>A	TOPMed
ABCB1	P08183	p.Ala1001Thr	rs1213524837	missense variant	-	NC_000007.14:g.87516592C>T	gnomAD
ABCB1	P08183	p.Ala1001Gly	rs752955240	missense variant	-	NC_000007.14:g.87516591G>C	ExAC,gnomAD
ABCB1	P08183	p.His1007Arg	rs1279830740	missense variant	-	NC_000007.14:g.87516573T>C	gnomAD
ABCB1	P08183	p.Met1010Val	rs201974955	missense variant	-	NC_000007.14:g.87516565T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile1011Phe	rs1239674801	missense variant	-	NC_000007.14:g.87516562T>A	gnomAD
ABCB1	P08183	p.Glu1013Asp	rs765970394	missense variant	-	NC_000007.14:g.87516554T>A	ExAC,gnomAD
ABCB1	P08183	p.Thr1015Asn	rs145774816	missense variant	-	NC_000007.14:g.87516549G>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1016Arg	rs1355889810	missense variant	-	NC_000007.14:g.87516546G>C	TOPMed,gnomAD
ABCB1	P08183	p.Asp1019Glu	rs1327938429	missense variant	-	NC_000007.14:g.87516536G>T	TOPMed,gnomAD
ABCB1	P08183	p.Asp1019Asn	rs772778438	missense variant	-	NC_000007.14:g.87516538C>T	ExAC,gnomAD
ABCB1	P08183	p.Ser1022Gly	rs1386411918	missense variant	-	NC_000007.14:g.87516529T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ser1022Arg	rs1386411918	missense variant	-	NC_000007.14:g.87516529T>G	TOPMed,gnomAD
ABCB1	P08183	p.Ser1022Arg	rs1158715642	missense variant	-	NC_000007.14:g.87516527G>T	gnomAD
ABCB1	P08183	p.Thr1023Met	rs142183184	missense variant	-	NC_000007.14:g.87516525G>A	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1023Ala	rs1162482512	missense variant	-	NC_000007.14:g.87516526T>C	TOPMed
ABCB1	P08183	p.Gly1025Ser	rs1317094548	missense variant	-	NC_000007.14:g.87516520C>T	TOPMed
ABCB1	P08183	p.Gly1025Ala	rs768507751	missense variant	-	NC_000007.14:g.87516519C>G	ExAC,gnomAD
ABCB1	P08183	p.Gly1025Asp	rs768507751	missense variant	-	NC_000007.14:g.87516519C>T	ExAC,gnomAD
ABCB1	P08183	p.Met1027Leu	rs553790901	missense variant	-	NC_000007.14:g.87516514T>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Met1027Lys	rs199819428	missense variant	-	NC_000007.14:g.87516513A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Met1027Thr	rs199819428	missense variant	-	NC_000007.14:g.87516513A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1028Leu	rs371977867	missense variant	-	NC_000007.14:g.87516510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1028Ser	rs1432511771	missense variant	-	NC_000007.14:g.87516511G>A	TOPMed
ABCB1	P08183	p.Asn1029Ser	rs771856280	missense variant	-	NC_000007.14:g.87515427T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1030Ala	rs201542635	missense variant	-	NC_000007.14:g.87515425T>C	TOPMed
ABCB1	P08183	p.Leu1031Ser	rs745866303	missense variant	-	NC_000007.14:g.87515421A>G	ExAC,gnomAD
ABCB1	P08183	p.Glu1032Gly	rs769980649	missense variant	-	NC_000007.14:g.87515418T>C	ExAC,gnomAD
ABCB1	P08183	p.Thr1036Lys	rs896954671	missense variant	-	NC_000007.14:g.87515406G>T	gnomAD
ABCB1	P08183	p.Thr1036Ile	rs896954671	missense variant	-	NC_000007.14:g.87515406G>A	gnomAD
ABCB1	P08183	p.Phe1037Leu	rs781503569	missense variant	-	NC_000007.14:g.87515402A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1040Ala	rs201819590	missense variant	-	NC_000007.14:g.87515394A>G	ExAC,gnomAD
ABCB1	P08183	p.Val1041Ile	rs200968469	missense variant	-	NC_000007.14:g.87515392C>T	ExAC,gnomAD
ABCB1	P08183	p.Tyr1044Phe	rs780583874	missense variant	-	NC_000007.14:g.87515382T>A	ExAC,gnomAD
ABCB1	P08183	p.Pro1045Thr	rs957765239	missense variant	-	NC_000007.14:g.87515380G>T	TOPMed,gnomAD
ABCB1	P08183	p.Pro1045Ala	rs957765239	missense variant	-	NC_000007.14:g.87515380G>C	TOPMed,gnomAD
ABCB1	P08183	p.Thr1046Pro	rs758803493	missense variant	-	NC_000007.14:g.87515377T>G	ExAC,gnomAD
ABCB1	P08183	p.Thr1046Ile	rs1439277801	missense variant	-	NC_000007.14:g.87515376G>A	gnomAD
ABCB1	P08183	p.Arg1047Ter	rs751009298	stop gained	-	NC_000007.14:g.87515374G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1048Ser	rs778275248	missense variant	-	NC_000007.14:g.87515371G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1048Leu	rs756736504	missense variant	-	NC_000007.14:g.87515370G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile1050Leu	rs760344941	missense variant	-	NC_000007.14:g.87515365T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ile1050Phe	rs760344941	missense variant	-	NC_000007.14:g.87515365T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Pro1051Ala	rs28401798	missense variant	-	NC_000007.14:g.87515362G>C	UniProt,dbSNP
ABCB1	P08183	p.Pro1051Ala	VAR_022280	missense variant	-	NC_000007.14:g.87515362G>C	UniProt
ABCB1	P08183	p.Pro1051Ala	rs28401798	missense variant	-	NC_000007.14:g.87515362G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1052Ala	rs1370593595	missense variant	-	NC_000007.14:g.87515358A>G	gnomAD
ABCB1	P08183	p.Leu1053Pro	rs1409934524	missense variant	-	NC_000007.14:g.87515355A>G	TOPMed
ABCB1	P08183	p.Gly1055Arg	rs199891187	missense variant	-	NC_000007.14:g.87515350C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gly1055Glu	rs774405049	missense variant	-	NC_000007.14:g.87515349C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser1057Arg	rs770785509	missense variant	-	NC_000007.14:g.87515342G>T	ExAC,gnomAD
ABCB1	P08183	p.Leu1058Val	rs1447617813	missense variant	-	NC_000007.14:g.87515341G>C	TOPMed
ABCB1	P08183	p.Glu1059Ter	rs1377559224	stop gained	-	NC_000007.14:g.87515338C>A	gnomAD
ABCB1	P08183	p.Lys1061Arg	rs1369130405	missense variant	-	NC_000007.14:g.87515331T>C	TOPMed
ABCB1	P08183	p.Lys1061Asn	rs1235695290	missense variant	-	NC_000007.14:g.87515330C>A	TOPMed
ABCB1	P08183	p.Lys1062Asn	rs1432613672	missense variant	-	NC_000007.14:g.87515327C>A	gnomAD
ABCB1	P08183	p.Gly1063Cys	rs761914266	missense variant	-	NC_000007.14:g.87515326C>A	ExAC,gnomAD
ABCB1	P08183	p.Thr1065Met	rs776877163	missense variant	-	NC_000007.14:g.87515319G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1067Asp	rs780279896	missense variant	-	NC_000007.14:g.87515313G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1067Thr	rs201951511	missense variant	-	NC_000007.14:g.87515314C>T	ExAC,gnomAD
ABCB1	P08183	p.Ala1067Val	rs780279896	missense variant	-	NC_000007.14:g.87515313G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu1068Val	rs772547356	missense variant	-	NC_000007.14:g.87515311G>C	ExAC,gnomAD
ABCB1	P08183	p.Ser1072Asn	rs1433103757	missense variant	-	NC_000007.14:g.87515298C>T	TOPMed,gnomAD
ABCB1	P08183	p.Gly1073Ala	rs1198742227	missense variant	-	NC_000007.14:g.87515295C>G	TOPMed
ABCB1	P08183	p.Cys1074Tyr	rs1025622951	missense variant	-	NC_000007.14:g.87515292C>T	TOPMed,gnomAD
ABCB1	P08183	p.Cys1074Trp	rs746235474	missense variant	-	NC_000007.14:g.87515291A>C	ExAC,gnomAD
ABCB1	P08183	p.Ser1077Asn	rs1431158619	missense variant	-	NC_000007.14:g.87515283C>T	TOPMed
ABCB1	P08183	p.Thr1078Ala	rs200192869	missense variant	-	NC_000007.14:g.87515281T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1078Ser	rs200192869	missense variant	-	NC_000007.14:g.87515281T>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1078Pro	rs200192869	missense variant	-	NC_000007.14:g.87515281T>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1079Met	rs1377795423	missense variant	-	NC_000007.14:g.87515278C>T	TOPMed
ABCB1	P08183	p.Val1080Gly	rs1288076350	missense variant	-	NC_000007.14:g.87515274A>C	gnomAD
ABCB1	P08183	p.Val1080Ile	rs1475311087	missense variant	-	NC_000007.14:g.87515275C>T	TOPMed
ABCB1	P08183	p.Val1080Ala	rs1288076350	missense variant	-	NC_000007.14:g.87515274A>G	gnomAD
ABCB1	P08183	p.Leu1083Val	rs200514028	missense variant	-	NC_000007.14:g.87515266G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Leu1083Pro	rs755734139	missense variant	-	NC_000007.14:g.87515265A>G	ExAC,gnomAD
ABCB1	P08183	p.Glu1084Gln	rs1403103790	missense variant	-	NC_000007.14:g.87515263C>G	TOPMed
ABCB1	P08183	p.Arg1085Trp	rs199943026	missense variant	-	NC_000007.14:g.87515260G>A	ExAC,gnomAD
ABCB1	P08183	p.Arg1085Gln	rs201765972	missense variant	-	NC_000007.14:g.87515259C>T	ESP,ExAC,gnomAD
ABCB1	P08183	p.Asp1088Asn	rs57521326	missense variant	-	NC_000007.14:g.87515251C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1091Gly	rs1412681422	missense variant	-	NC_000007.14:g.87515241G>C	gnomAD
ABCB1	P08183	p.Lys1093Glu	rs776827328	missense variant	-	NC_000007.14:g.87515236T>C	ExAC,gnomAD
ABCB1	P08183	p.Val1094Met	rs768927661	missense variant	-	NC_000007.14:g.87515233C>T	ExAC,gnomAD
ABCB1	P08183	p.Lys1099Glu	rs41309225	missense variant	-	NC_000007.14:g.87509469T>C	ExAC,gnomAD
ABCB1	P08183	p.Lys1099Gln	rs41309225	missense variant	-	NC_000007.14:g.87509469T>G	ExAC,gnomAD
ABCB1	P08183	p.Arg1103Gln	rs1266372866	missense variant	-	NC_000007.14:g.87509456C>T	gnomAD
ABCB1	P08183	p.Arg1103Ter	rs1470273650	stop gained	-	NC_000007.14:g.87509457G>A	gnomAD
ABCB1	P08183	p.Val1106Ile	rs148897157	missense variant	-	NC_000007.14:g.87509448C>T	ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gln1107Pro	rs55852620	missense variant	-	NC_000007.14:g.87509444T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gln1107Pro	rs55852620	missense variant	-	NC_000007.14:g.87509444T>G	UniProt,dbSNP
ABCB1	P08183	p.Gln1107Pro	VAR_015005	missense variant	-	NC_000007.14:g.87509444T>G	UniProt
ABCB1	P08183	p.Gln1107Glu	rs774748307	missense variant	-	NC_000007.14:g.87509445G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Trp1108Arg	rs35730308	missense variant	-	NC_000007.14:g.87509442A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Trp1108Ter	rs1334153891	stop gained	-	NC_000007.14:g.87509441C>T	TOPMed
ABCB1	P08183	p.Leu1109Ile	rs773651038	missense variant	-	NC_000007.14:g.87509439G>T	ExAC,gnomAD
ABCB1	P08183	p.Arg1110Ter	rs1014207158	stop gained	-	NC_000007.14:g.87509436G>A	TOPMed
ABCB1	P08183	p.Arg1110Gln	rs770289924	missense variant	-	NC_000007.14:g.87509435C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1111Thr	rs1293871816	missense variant	-	NC_000007.14:g.87509433C>T	TOPMed,gnomAD
ABCB1	P08183	p.Gly1114Ser	rs747650743	missense variant	-	NC_000007.14:g.87509424C>T	ExAC,gnomAD
ABCB1	P08183	p.Gly1114Asp	rs1328523726	missense variant	-	NC_000007.14:g.87509423C>T	TOPMed
ABCB1	P08183	p.Ile1115Thr	rs199931681	missense variant	-	NC_000007.14:g.87509420A>G	TOPMed,gnomAD
ABCB1	P08183	p.Ile1115Val	rs1347910274	missense variant	-	NC_000007.14:g.87509421T>C	gnomAD
ABCB1	P08183	p.Val1116Met	rs1389010033	missense variant	-	NC_000007.14:g.87509418C>T	TOPMed,gnomAD
ABCB1	P08183	p.Pro1120His	rs746677023	missense variant	-	NC_000007.14:g.87509405G>T	ExAC,gnomAD
ABCB1	P08183	p.Ile1121Met	rs1017877229	missense variant	-	NC_000007.14:g.87509401G>C	TOPMed
ABCB1	P08183	p.Leu1122Val	rs779984514	missense variant	-	NC_000007.14:g.87509400G>C	ExAC,gnomAD
ABCB1	P08183	p.Asp1124Tyr	rs1253462004	missense variant	-	NC_000007.14:g.87509394C>A	gnomAD
ABCB1	P08183	p.Cys1125Gly	rs758212180	missense variant	-	NC_000007.14:g.87509391A>C	ExAC,gnomAD
ABCB1	P08183	p.Ile1127Val	rs199894992	missense variant	-	NC_000007.14:g.87509385T>C	gnomAD
ABCB1	P08183	p.Glu1129Lys	rs763091787	missense variant	-	NC_000007.14:g.87509379C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn1130Ile	rs765229328	missense variant	-	NC_000007.14:g.87509375T>A	ExAC,gnomAD
ABCB1	P08183	p.Asn1130Ser	rs765229328	missense variant	-	NC_000007.14:g.87509375T>C	ExAC,gnomAD
ABCB1	P08183	p.Tyr1133Cys	rs1314060722	missense variant	-	NC_000007.14:g.87509366T>C	gnomAD
ABCB1	P08183	p.Gly1134Arg	rs767536622	missense variant	-	NC_000007.14:g.87509364C>T	ExAC,gnomAD
ABCB1	P08183	p.Gly1134Ter	rs767536622	stop gained	-	NC_000007.14:g.87509364C>A	ExAC,gnomAD
ABCB1	P08183	p.Asp1135Glu	rs774493186	missense variant	-	NC_000007.14:g.87509359G>T	ExAC,gnomAD
ABCB1	P08183	p.Asn1136Ser	rs766599262	missense variant	-	NC_000007.14:g.87509357T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg1138Gln	rs200196668	missense variant	-	NC_000007.14:g.87509351C>T	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Arg1138Trp	rs773597757	missense variant	-	NC_000007.14:g.87509352G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser1141Thr	rs2229107	missense variant	-	NC_000007.14:g.87509343A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1144Lys	rs768115578	missense variant	-	NC_000007.14:g.87509334C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1146Met	rs779788253	missense variant	-	NC_000007.14:g.87509328C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1146Leu	rs779788253	missense variant	-	NC_000007.14:g.87509328C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1147Lys	rs1482837611	missense variant	-	NC_000007.14:g.87509324C>T	gnomAD
ABCB1	P08183	p.Ala1148Thr	rs1272689553	missense variant	-	NC_000007.14:g.87509322C>T	gnomAD
ABCB1	P08183	p.Ala1152Ser	rs201520086	missense variant	-	NC_000007.14:g.87509310C>A	ExAC,gnomAD
ABCB1	P08183	p.Ala1152Thr	rs201520086	missense variant	-	NC_000007.14:g.87509310C>T	ExAC,gnomAD
ABCB1	P08183	p.His1155Arg	rs1313948400	missense variant	-	NC_000007.14:g.87509300T>C	TOPMed
ABCB1	P08183	p.Ala1156Pro	rs745613481	missense variant	-	NC_000007.14:g.87509298C>G	ExAC,gnomAD
ABCB1	P08183	p.Ala1156Gly	rs778901580	missense variant	-	NC_000007.14:g.87509297G>C	ExAC,gnomAD
ABCB1	P08183	p.Ile1158Met	rs200703943	missense variant	-	NC_000007.14:g.87509290G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1159Lys	rs781320202	missense variant	-	NC_000007.14:g.87509289C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1159Asp	rs1410153460	missense variant	-	NC_000007.14:g.87509287C>A	TOPMed,gnomAD
ABCB1	P08183	p.Pro1162Thr	rs751662492	missense variant	-	NC_000007.14:g.87509280G>T	ExAC,gnomAD
ABCB1	P08183	p.Asn1163Lys	rs766547835	missense variant	-	NC_000007.14:g.87509275A>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys1168Glu	rs59241388	missense variant	-	NC_000007.14:g.87506031T>C	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Val1169Ile	rs780152885	missense variant	-	NC_000007.14:g.87506028C>T	ExAC,gnomAD
ABCB1	P08183	p.Gly1173Arg	rs1473237773	missense variant	-	NC_000007.14:g.87506016C>T	gnomAD
ABCB1	P08183	p.Ser1177Cys	rs1466258029	missense variant	-	NC_000007.14:g.87506003G>C	gnomAD
ABCB1	P08183	p.Gly1179GlyArgArgAspAspCysSerThrTerGluGluLeuCysTerLeuCysPheUnk	rs1295088187	stop gained	-	NC_000007.14:g.87505996_87505997insAAAACAAAGTCAGCACAGCTCTTCTTAAGTACTGCAATCATCTCTTCTT	gnomAD
ABCB1	P08183	p.Gly1179Cys	rs1415144759	missense variant	-	NC_000007.14:g.87505998C>A	TOPMed
ABCB1	P08183	p.Arg1183Cys	rs199676098	missense variant	-	NC_000007.14:g.87505986G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1183Ser	rs199676098	missense variant	-	NC_000007.14:g.87505986G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1183His	rs754264039	missense variant	-	NC_000007.14:g.87505985C>T	ExAC,gnomAD
ABCB1	P08183	p.Ile1184Val	rs1281843123	missense variant	-	NC_000007.14:g.87505983T>C	TOPMed,gnomAD
ABCB1	P08183	p.Ala1185Asp	rs764463583	missense variant	-	NC_000007.14:g.87505979G>T	ExAC,gnomAD
ABCB1	P08183	p.Ile1186Val	rs1400860335	missense variant	-	NC_000007.14:g.87505977T>C	TOPMed
ABCB1	P08183	p.Arg1188Gly	rs139820108	missense variant	-	NC_000007.14:g.87505971G>C	ESP,TOPMed
ABCB1	P08183	p.Arg1188Cys	rs139820108	missense variant	-	NC_000007.14:g.87505971G>A	ESP,TOPMed
ABCB1	P08183	p.Arg1188His	rs201530445	missense variant	-	NC_000007.14:g.87505970C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1189Val	rs1378191421	missense variant	-	NC_000007.14:g.87505967G>A	-
ABCB1	P08183	p.Gln1193Arg	rs759250541	missense variant	-	NC_000007.14:g.87505955T>C	ExAC,gnomAD
ABCB1	P08183	p.Pro1194Thr	rs1285942204	missense variant	-	NC_000007.14:g.87505953G>T	TOPMed
ABCB1	P08183	p.His1195Tyr	rs769925505	missense variant	-	NC_000007.14:g.87505950G>A	TOPMed
ABCB1	P08183	p.Ile1196Val	rs1366730591	missense variant	-	NC_000007.14:g.87505947T>C	gnomAD
ABCB1	P08183	p.Thr1203Arg	rs770620028	missense variant	-	NC_000007.14:g.87505925G>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1203Met	rs770620028	missense variant	-	NC_000007.14:g.87505925G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1205Thr	rs202030954	missense variant	-	NC_000007.14:g.87505920C>T	gnomAD
ABCB1	P08183	p.Glu1209Lys	rs769592199	missense variant	-	NC_000007.14:g.87505908C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1209Gln	rs769592199	missense variant	-	NC_000007.14:g.87505908C>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ser1210Cys	rs1390471469	missense variant	-	NC_000007.14:g.87505905T>A	TOPMed,gnomAD
ABCB1	P08183	p.Ser1210Gly	rs1390471469	missense variant	-	NC_000007.14:g.87505905T>C	TOPMed,gnomAD
ABCB1	P08183	p.Glu1211Ala	rs201111035	missense variant	-	NC_000007.14:g.87505901T>G	ExAC,gnomAD
ABCB1	P08183	p.Lys1212Asn	rs1451623254	missense variant	-	NC_000007.14:g.87505897C>A	gnomAD
ABCB1	P08183	p.Lys1212Asn	rs1451623254	missense variant	-	NC_000007.14:g.87505897C>G	gnomAD
ABCB1	P08183	p.Lys1212Thr	rs1029583513	missense variant	-	NC_000007.14:g.87505898T>G	TOPMed
ABCB1	P08183	p.Glu1216Lys	rs140995435	missense variant	-	NC_000007.14:g.87504440C>T	gnomAD
ABCB1	P08183	p.Ala1221Pro	rs768613690	missense variant	-	NC_000007.14:g.87504425C>G	ExAC,gnomAD
ABCB1	P08183	p.Arg1222Thr	rs1344972013	missense variant	-	NC_000007.14:g.87504421C>G	gnomAD
ABCB1	P08183	p.Arg1222Gly	rs1188387982	missense variant	-	NC_000007.14:g.87504422T>C	gnomAD
ABCB1	P08183	p.Glu1223Asp	rs41309231	missense variant	-	NC_000007.14:g.87504417T>A	TOPMed
ABCB1	P08183	p.Arg1225His	rs779103120	missense variant	-	NC_000007.14:g.87504412C>T	ExAC,gnomAD
ABCB1	P08183	p.Arg1225Cys	rs1281746264	missense variant	-	NC_000007.14:g.87504413G>A	TOPMed,gnomAD
ABCB1	P08183	p.Thr1226Ala	rs1338160384	missense variant	-	NC_000007.14:g.87504410T>C	TOPMed
ABCB1	P08183	p.Ile1228Asn	rs1408243208	missense variant	-	NC_000007.14:g.87504403A>T	gnomAD
ABCB1	P08183	p.Ile1230Val	rs757394498	missense variant	-	NC_000007.14:g.87504398T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg1233Leu	rs201578293	missense variant	-	NC_000007.14:g.87504388C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1233Cys	rs563375387	missense variant	-	NC_000007.14:g.87504389G>A	1000Genomes,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1233His	rs201578293	missense variant	-	NC_000007.14:g.87504388C>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1236Ile	rs200637194	missense variant	-	NC_000007.14:g.87504379G>A	gnomAD
ABCB1	P08183	p.Ile1237Val	rs139750664	missense variant	-	NC_000007.14:g.87504377T>C	ESP,ExAC,gnomAD
ABCB1	P08183	p.Gln1238His	rs755563103	missense variant	-	NC_000007.14:g.87504372C>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Ala1240Ser	rs201089646	missense variant	-	NC_000007.14:g.87504368C>A	1000Genomes,ExAC,gnomAD
ABCB1	P08183	p.Asp1241Glu	rs762504646	missense variant	-	NC_000007.14:g.87504363G>C	ExAC,gnomAD
ABCB1	P08183	p.Asp1241Asn	rs142093374	missense variant	-	NC_000007.14:g.87504365C>T	ESP
ABCB1	P08183	p.Leu1242Phe	rs1210266411	missense variant	-	NC_000007.14:g.87504360T>G	gnomAD
ABCB1	P08183	p.Ile1243Arg	rs1441356731	missense variant	-	NC_000007.14:g.87504358A>C	gnomAD
ABCB1	P08183	p.Val1244Ala	rs772971590	missense variant	-	NC_000007.14:g.87504355A>G	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Asn1248Lys	rs1230774968	missense variant	-	NC_000007.14:g.87504342A>T	TOPMed,gnomAD
ABCB1	P08183	p.Gly1249Ser	rs1470598507	missense variant	-	NC_000007.14:g.87504341C>T	TOPMed
ABCB1	P08183	p.Arg1250Ile	rs1373455786	missense variant	-	NC_000007.14:g.87504337C>A	gnomAD
ABCB1	P08183	p.Val1251Ile	rs28364274	missense variant	-	NC_000007.14:g.87504335C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Lys1252Glu	rs1444127505	missense variant	-	NC_000007.14:g.87504332T>C	gnomAD
ABCB1	P08183	p.Lys1252Arg	rs768562415	missense variant	-	NC_000007.14:g.87504331T>C	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Glu1253Gln	rs1303671591	missense variant	-	NC_000007.14:g.87504329C>G	gnomAD
ABCB1	P08183	p.His1254Gln	rs1404008939	missense variant	-	NC_000007.14:g.87504324A>C	TOPMed,gnomAD
ABCB1	P08183	p.His1254Asn	rs1447340915	missense variant	-	NC_000007.14:g.87504326G>T	gnomAD
ABCB1	P08183	p.Gly1255Asp	rs1013586488	missense variant	-	NC_000007.14:g.87504322C>T	TOPMed
ABCB1	P08183	p.Thr1256Met	rs35721439	missense variant	-	NC_000007.14:g.87504319G>A	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Thr1256Lys	rs35721439	missense variant	-	NC_000007.14:g.87504319G>T	ExAC,TOPMed,gnomAD
ABCB1	P08183	p.His1257Tyr	rs771100707	missense variant	-	NC_000007.14:g.87504317G>A	ExAC,gnomAD
ABCB1	P08183	p.His1257Arg	rs1044890354	missense variant	-	NC_000007.14:g.87504316T>C	gnomAD
ABCB1	P08183	p.His1257Pro	rs1044890354	missense variant	-	NC_000007.14:g.87504316T>G	gnomAD
ABCB1	P08183	p.Gly1265Ser	rs1038514609	missense variant	-	NC_000007.14:g.87504293C>T	TOPMed
ABCB1	P08183	p.Ile1266Val	rs1283093586	missense variant	-	NC_000007.14:g.87504290T>C	TOPMed
ABCB1	P08183	p.Tyr1267Cys	rs1415447553	missense variant	-	NC_000007.14:g.87504286T>C	gnomAD
ABCB1	P08183	p.Ala1275Ser	rs1321813708	missense variant	-	NC_000007.14:g.87504263C>A	TOPMed
ABCB1	P08183	p.Thr1277Ala	rs777987186	missense variant	-	NC_000007.14:g.87504257T>C	ExAC,gnomAD
ABCB1	P08183	p.Arg1279His	rs200263370	missense variant	-	NC_000007.14:g.87504250C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1279Leu	rs200263370	missense variant	-	NC_000007.14:g.87504250C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Arg1279Cys	rs137996914	missense variant	-	NC_000007.14:g.87504251G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ABCB1	P08183	p.Gln1280His	rs1214032998	missense variant	-	NC_000007.14:g.87504246C>A	gnomAD
ABCB1	P08183	p.Gln1280Pro	rs202194143	missense variant	-	NC_000007.14:g.87504247T>G	1000Genomes,ExAC,gnomAD
SERPINA6	P08185	p.Met1Unk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.94314647_94314648insAAGTC	NCI-TCGA
SERPINA6	P08185	p.Pro2Gln	rs763107074	missense variant	-	NC_000014.9:g.94314644G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu3Phe	COSM4392570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314642G>A	NCI-TCGA Cosmic
SERPINA6	P08185	p.Leu5Met	COSM1587696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314636G>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Leu5Pro	rs752853327	missense variant	-	NC_000014.9:g.94314635A>G	ExAC
SERPINA6	P08185	p.Thr7Pro	rs1330298936	missense variant	-	NC_000014.9:g.94314630T>G	gnomAD
SERPINA6	P08185	p.Thr7Ile	rs1287480013	missense variant	-	NC_000014.9:g.94314629G>A	TOPMed
SERPINA6	P08185	p.Cys8Phe	rs139544351	missense variant	-	NC_000014.9:g.94314626C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu9Phe	rs150568135	missense variant	-	NC_000014.9:g.94314624G>A	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Leu9Ile	rs150568135	missense variant	-	NC_000014.9:g.94314624G>T	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Trp11Ter	rs777245398	stop gained	-	NC_000014.9:g.94314617C>T	ExAC,gnomAD
SERPINA6	P08185	p.Trp11Ter	rs771517988	stop gained	-	NC_000014.9:g.94314616C>T	ExAC,gnomAD
SERPINA6	P08185	p.Pro13Leu	rs1237575015	missense variant	-	NC_000014.9:g.94314611G>A	gnomAD
SERPINA6	P08185	p.Pro13Ser	rs772782016	missense variant	-	NC_000014.9:g.94314612G>A	ExAC,gnomAD
SERPINA6	P08185	p.Thr14Ile	rs142631353	missense variant	-	NC_000014.9:g.94314608G>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr14Ser	rs142631353	missense variant	-	NC_000014.9:g.94314608G>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser15Arg	rs768544398	missense variant	-	NC_000014.9:g.94314604G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser15Gly	rs747876567	missense variant	-	NC_000014.9:g.94314606T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly16Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314602C>T	NCI-TCGA
SERPINA6	P08185	p.Gly16Ser	rs748984466	missense variant	-	NC_000014.9:g.94314603C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly16Cys	rs748984466	missense variant	-	NC_000014.9:g.94314603C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu17His	rs998572459	missense variant	-	NC_000014.9:g.94314599A>T	TOPMed
SERPINA6	P08185	p.Trp18Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.94314595C>T	NCI-TCGA
SERPINA6	P08185	p.Trp18Arg	rs1288807821	missense variant	-	NC_000014.9:g.94314597A>G	gnomAD
SERPINA6	P08185	p.Thr19Asn	COSM4902411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314593G>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Val20Ile	rs139446936	missense variant	-	NC_000014.9:g.94314591C>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gln21Ter	rs371119681	stop gained	-	NC_000014.9:g.94314588G>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met23Thr	rs1300550199	missense variant	-	NC_000014.9:g.94314581A>G	TOPMed
SERPINA6	P08185	p.Pro25Ser	rs146176684	missense variant	-	NC_000014.9:g.94314576G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala27Thr	rs753007057	missense variant	-	NC_000014.9:g.94314570C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala28Val	rs1385354738	missense variant	-	NC_000014.9:g.94314566G>A	gnomAD
SERPINA6	P08185	p.Tyr29Asn	rs1299969579	missense variant	-	NC_000014.9:g.94314564A>T	gnomAD
SERPINA6	P08185	p.Tyr29Ter	rs1301766188	stop gained	-	NC_000014.9:g.94314562A>T	TOPMed
SERPINA6	P08185	p.Met32Ile	COSM4400185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314553C>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Met32Leu	rs755394835	missense variant	-	NC_000014.9:g.94314555T>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser33Ile	rs776422169	missense variant	-	NC_000014.9:g.94314551C>A	TOPMed
SERPINA6	P08185	p.Asn34Lys	rs1379599510	missense variant	-	NC_000014.9:g.94314547G>C	TOPMed,gnomAD
SERPINA6	P08185	p.His36Pro	rs148218218	missense variant	-	NC_000014.9:g.94314542T>G	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.His36Gln	rs143058829	missense variant	-	NC_000014.9:g.94314541G>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.His36Arg	rs148218218	missense variant	-	NC_000014.9:g.94314542T>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg37Trp	rs201703843	missense variant	-	NC_000014.9:g.94314540G>A	1000Genomes,TOPMed
SERPINA6	P08185	p.Arg37Gln	rs199612438	missense variant	-	NC_000014.9:g.94314539C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly38Val	rs761204701	missense variant	-	NC_000014.9:g.94314536C>A	ExAC,TOPMed
SERPINA6	P08185	p.Gly38Cys	rs767174033	missense variant	-	NC_000014.9:g.94314537C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly38Ser	rs767174033	missense variant	-	NC_000014.9:g.94314537C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu39Val	rs768150666	missense variant	-	NC_000014.9:g.94314534G>C	ExAC,gnomAD
SERPINA6	P08185	p.Ser41Ala	rs1432227317	missense variant	-	NC_000014.9:g.94314528A>C	TOPMed
SERPINA6	P08185	p.Ala42Val	rs1488280921	missense variant	-	NC_000014.9:g.94314524G>A	gnomAD
SERPINA6	P08185	p.Asn43Asp	rs1293105465	missense variant	-	NC_000014.9:g.94314522T>C	gnomAD
SERPINA6	P08185	p.Asn43Lys	rs749109208	missense variant	-	NC_000014.9:g.94314520G>T	ExAC,gnomAD
SERPINA6	P08185	p.Val44Ala	rs537835110	missense variant	-	NC_000014.9:g.94314518A>G	NCI-TCGA
SERPINA6	P08185	p.Val44Ile	rs750000108	missense variant	-	NC_000014.9:g.94314519C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val44Ala	rs537835110	missense variant	-	NC_000014.9:g.94314518A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp45Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314515T>C	NCI-TCGA
SERPINA6	P08185	p.Asp45Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314515T>A	NCI-TCGA
SERPINA6	P08185	p.Ala47Val	rs1429771898	missense variant	-	NC_000014.9:g.94314509G>A	TOPMed
SERPINA6	P08185	p.Tyr51Cys	rs1279922831	missense variant	-	NC_000014.9:g.94314497T>C	gnomAD
SERPINA6	P08185	p.His53Pro	rs1397908293	missense variant	-	NC_000014.9:g.94314491T>G	gnomAD
SERPINA6	P08185	p.Val55Glu	rs1359866404	missense variant	-	NC_000014.9:g.94314485A>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ala56Asp	rs1484736032	missense variant	-	NC_000014.9:g.94314482G>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ser58Cys	rs758525045	missense variant	-	NC_000014.9:g.94314477T>A	ExAC,gnomAD
SERPINA6	P08185	p.Pro59His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314473G>T	NCI-TCGA
SERPINA6	P08185	p.Pro59Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314474G>A	NCI-TCGA
SERPINA6	P08185	p.Pro59Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314473G>A	NCI-TCGA
SERPINA6	P08185	p.Lys61Asn	rs748129916	missense variant	-	NC_000014.9:g.94314466C>A	ExAC,gnomAD
SERPINA6	P08185	p.Asn62Ser	rs1192007952	missense variant	-	NC_000014.9:g.94314464T>C	gnomAD
SERPINA6	P08185	p.Phe64Cys	rs1257561313	missense variant	-	NC_000014.9:g.94314458A>C	gnomAD
SERPINA6	P08185	p.Ile65Phe	rs1203867726	missense variant	-	NC_000014.9:g.94314456T>A	TOPMed,gnomAD
SERPINA6	P08185	p.Ile65Val	rs1203867726	missense variant	-	NC_000014.9:g.94314456T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Ser66Ala	rs1477689690	missense variant	-	NC_000014.9:g.94314453A>C	gnomAD
SERPINA6	P08185	p.Pro67Leu	rs1003009602	missense variant	-	NC_000014.9:g.94314449G>A	TOPMed,gnomAD
SERPINA6	P08185	p.Val68Met	rs922608302	missense variant	-	NC_000014.9:g.94314447C>T	TOPMed
SERPINA6	P08185	p.Ile70Asn	rs370353870	missense variant	-	NC_000014.9:g.94314440A>T	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Met72Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314433C>T	NCI-TCGA
SERPINA6	P08185	p.Met72Val	rs1452840521	missense variant	-	NC_000014.9:g.94314435T>C	gnomAD
SERPINA6	P08185	p.Met72Thr	rs199720892	missense variant	-	NC_000014.9:g.94314434A>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala73Val	rs146744332	missense variant	-	NC_000014.9:g.94314431G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Cys82Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.94314403A>T	NCI-TCGA
SERPINA6	P08185	p.Thr85Ile	rs751015476	missense variant	-	NC_000014.9:g.94314395G>A	ExAC,gnomAD
SERPINA6	P08185	p.Arg86Gln	rs199541890	missense variant	-	NC_000014.9:g.94314392C>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg86Trp	rs199699199	missense variant	-	NC_000014.9:g.94314393G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg86Trp	rs199699199	missense variant	-	NC_000014.9:g.94314393G>A	NCI-TCGA,NCI-TCGA Cosmic
SERPINA6	P08185	p.Arg86Leu	rs199541890	missense variant	-	NC_000014.9:g.94314392C>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala87Asp	COSM6076467	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314389G>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Ala87Thr	rs1402795109	missense variant	-	NC_000014.9:g.94314390C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Leu90Phe	rs775123612	missense variant	-	NC_000014.9:g.94314381G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu90Ile	rs775123612	missense variant	-	NC_000014.9:g.94314381G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu90Ile	rs775123612	missense variant	-	NC_000014.9:g.94314381G>T	NCI-TCGA,NCI-TCGA Cosmic
SERPINA6	P08185	p.Gly92Ser	rs1433974024	missense variant	-	NC_000014.9:g.94314375C>T	TOPMed
SERPINA6	P08185	p.Gly94Ser	COSM3886603	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314369C>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Leu97Ile	rs1246633584	missense variant	-	NC_000014.9:g.94314360G>T	gnomAD
SERPINA6	P08185	p.Arg100Lys	rs922069031	missense variant	-	NC_000014.9:g.94314350C>T	TOPMed
SERPINA6	P08185	p.Arg100Thr	rs922069031	missense variant	-	NC_000014.9:g.94314350C>G	TOPMed
SERPINA6	P08185	p.Glu102Asp	rs1196320141	missense variant	-	NC_000014.9:g.94314343C>G	gnomAD
SERPINA6	P08185	p.Glu102Lys	rs776573032	missense variant	-	NC_000014.9:g.94314345C>T	ExAC,gnomAD
SERPINA6	P08185	p.Thr103Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314341G>A	NCI-TCGA
SERPINA6	P08185	p.Thr103Ser	rs770736077	missense variant	-	NC_000014.9:g.94314341G>C	ExAC,gnomAD
SERPINA6	P08185	p.Glu104Asp	rs1278995218	missense variant	-	NC_000014.9:g.94314337C>A	gnomAD
SERPINA6	P08185	p.His106Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314333G>A	NCI-TCGA
SERPINA6	P08185	p.His106Arg	rs1220722003	missense variant	-	NC_000014.9:g.94314332T>C	gnomAD
SERPINA6	P08185	p.Gln107His	rs1219781994	missense variant	-	NC_000014.9:g.94314328C>G	TOPMed
SERPINA6	P08185	p.Gln107Ter	rs1012631736	stop gained	-	NC_000014.9:g.94314330G>A	TOPMed
SERPINA6	P08185	p.Gly108Val	rs1274161889	missense variant	-	NC_000014.9:g.94314326C>A	gnomAD
SERPINA6	P08185	p.Gly108Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314327C>T	NCI-TCGA
SERPINA6	P08185	p.Phe109Leu	rs748264131	missense variant	-	NC_000014.9:g.94314324A>G	ExAC,gnomAD
SERPINA6	P08185	p.Gln110Ter	rs778802358	stop gained	-	NC_000014.9:g.94314321G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.His111Tyr	rs187253929	missense variant	-	NC_000014.9:g.94314318G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.His111Gln	rs776044619	missense variant	-	NC_000014.9:g.94314316G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu112Gln	rs1245822115	missense variant	-	NC_000014.9:g.94314314A>T	TOPMed
SERPINA6	P08185	p.His113Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314312G>A	NCI-TCGA
SERPINA6	P08185	p.His113Arg	rs1426697130	missense variant	-	NC_000014.9:g.94314311T>C	gnomAD
SERPINA6	P08185	p.Gln114His	COSM257987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314307T>G	NCI-TCGA Cosmic
SERPINA6	P08185	p.Gln114Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314308T>A	NCI-TCGA
SERPINA6	P08185	p.Leu115His	rs113418909	missense variant	-	NC_000014.9:g.94314305A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu115His	RCV000479165	missense variant	-	NC_000014.9:g.94314305A>T	ClinVar
SERPINA6	P08185	p.Leu115His	rs113418909	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94314305A>T	UniProt,dbSNP
SERPINA6	P08185	p.Leu115His	VAR_007111	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94314305A>T	UniProt
SERPINA6	P08185	p.Leu115Ile	rs756569160	missense variant	-	NC_000014.9:g.94314306G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Phe116Leu	rs1460592467	missense variant	-	NC_000014.9:g.94314301A>C	gnomAD
SERPINA6	P08185	p.Lys118Arg	rs1160993967	missense variant	-	NC_000014.9:g.94314296T>C	TOPMed
SERPINA6	P08185	p.Asp120His	rs377478491	missense variant	-	NC_000014.9:g.94314291C>G	ESP,ExAC
SERPINA6	P08185	p.Thr121Ser	rs1159602844	missense variant	-	NC_000014.9:g.94314287G>C	TOPMed,gnomAD
SERPINA6	P08185	p.Glu124Gly	rs202107375	missense variant	-	NC_000014.9:g.94314278T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met127Thr	rs762497186	missense variant	-	NC_000014.9:g.94314269A>G	ExAC,gnomAD
SERPINA6	P08185	p.Met127Ile	rs752400429	missense variant	-	NC_000014.9:g.94314268C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met127Val	rs763581643	missense variant	-	NC_000014.9:g.94314270T>C	ExAC,gnomAD
SERPINA6	P08185	p.Gly128Val	rs1212019872	missense variant	-	NC_000014.9:g.94314266C>A	gnomAD
SERPINA6	P08185	p.Ala130Val	rs764824086	missense variant	-	NC_000014.9:g.94314260G>A	ExAC,gnomAD
SERPINA6	P08185	p.Ala130Thr	rs1310172418	missense variant	-	NC_000014.9:g.94314261C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Leu133Phe	COSM4405754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314252G>A	NCI-TCGA Cosmic
SERPINA6	P08185	p.Asp134Glu	COSM4414446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314247A>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Asp134Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314248T>C	NCI-TCGA
SERPINA6	P08185	p.Ser136Arg	rs576835982	missense variant	-	NC_000014.9:g.94314241G>C	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Glu138Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314237C>T	NCI-TCGA
SERPINA6	P08185	p.Leu139Phe	rs760589588	missense variant	-	NC_000014.9:g.94314232C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Glu141Lys	rs773169450	missense variant	-	NC_000014.9:g.94314228C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Glu141Ter	rs773169450	stop gained	-	NC_000014.9:g.94314228C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser142Leu	rs768665551	missense variant	-	NC_000014.9:g.94314224G>A	ExAC,gnomAD
SERPINA6	P08185	p.Ala145Gly	rs749331141	missense variant	-	NC_000014.9:g.94314215G>C	ExAC,gnomAD
SERPINA6	P08185	p.Ile147Asn	COSM1651277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314209A>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Ile147Val	rs1421995088	missense variant	-	NC_000014.9:g.94314210T>C	gnomAD
SERPINA6	P08185	p.Lys148Asn	rs1156373008	missense variant	-	NC_000014.9:g.94314205C>A	TOPMed,gnomAD
SERPINA6	P08185	p.Tyr151Cys	rs760917391	missense variant	-	NC_000014.9:g.94314197T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Glu152Lys	rs1183201844	missense variant	-	NC_000014.9:g.94314195C>T	gnomAD
SERPINA6	P08185	p.Ser153Leu	rs141500229	missense variant	-	NC_000014.9:g.94314191G>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser153Thr	rs374185317	missense variant	-	NC_000014.9:g.94314192A>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val155Asp	rs1453918017	missense variant	-	NC_000014.9:g.94314185A>T	TOPMed,gnomAD
SERPINA6	P08185	p.Val155Ala	rs1453918017	missense variant	-	NC_000014.9:g.94314185A>G	TOPMed,gnomAD
SERPINA6	P08185	p.Val155Ile	rs1489270021	missense variant	-	NC_000014.9:g.94314186C>T	gnomAD
SERPINA6	P08185	p.Asn159Ser	rs757873099	missense variant	-	NC_000014.9:g.94314173T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gln161Ter	rs752163522	stop gained	-	NC_000014.9:g.94314168G>A	ExAC,gnomAD
SERPINA6	P08185	p.Trp163Arg	rs376846419	missense variant	-	NC_000014.9:g.94314162A>G	NCI-TCGA,NCI-TCGA Cosmic
SERPINA6	P08185	p.Trp163Arg	rs376846419	missense variant	-	NC_000014.9:g.94314162A>G	ESP
SERPINA6	P08185	p.Trp163Ter	rs561845008	stop gained	-	NC_000014.9:g.94314161C>T	ExAC,gnomAD
SERPINA6	P08185	p.Trp163Ter	rs759133022	stop gained	-	NC_000014.9:g.94314160C>T	ExAC,gnomAD
SERPINA6	P08185	p.Trp163Ser	rs561845008	missense variant	-	NC_000014.9:g.94314161C>G	ExAC,gnomAD
SERPINA6	P08185	p.Ala164Ser	COSM6141344	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314159C>A	NCI-TCGA Cosmic
SERPINA6	P08185	p.Ser167Asn	rs766126799	missense variant	-	NC_000014.9:g.94314149C>T	ExAC,gnomAD
SERPINA6	P08185	p.Arg168Ter	rs1359225041	stop gained	-	NC_000014.9:g.94314147T>A	gnomAD
SERPINA6	P08185	p.Gln169His	rs760494725	missense variant	-	NC_000014.9:g.94314142C>G	ExAC,gnomAD
SERPINA6	P08185	p.Ile170Phe	rs773046265	missense variant	-	NC_000014.9:g.94314141T>A	ExAC,gnomAD
SERPINA6	P08185	p.Asn171Lys	rs1052759090	missense variant	-	NC_000014.9:g.94314136G>T	gnomAD
SERPINA6	P08185	p.Tyr173Asn	rs777877328	missense variant	-	NC_000014.9:g.94314132A>T	ExAC
SERPINA6	P08185	p.Lys175Asn	rs775649161	missense variant	-	NC_000014.9:g.94314124C>G	ExAC,gnomAD
SERPINA6	P08185	p.Gln179Glu	rs1382498213	missense variant	-	NC_000014.9:g.94314114G>C	TOPMed,gnomAD
SERPINA6	P08185	p.Gly180Glu	rs769978145	missense variant	-	NC_000014.9:g.94314110C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Lys181Glu	rs1215754630	missense variant	-	NC_000014.9:g.94314108T>C	gnomAD
SERPINA6	P08185	p.Ile182Thr	rs746155857	missense variant	-	NC_000014.9:g.94314104A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp184Asn	rs182173676	missense variant	-	NC_000014.9:g.94314099C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp184Tyr	rs182173676	missense variant	-	NC_000014.9:g.94314099C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp190His	rs1321415815	missense variant	-	NC_000014.9:g.94314081C>G	gnomAD
SERPINA6	P08185	p.Ser191Asn	rs1220896385	missense variant	-	NC_000014.9:g.94314077C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ser191Thr	rs1220896385	missense variant	-	NC_000014.9:g.94314077C>G	TOPMed,gnomAD
SERPINA6	P08185	p.Pro192Gln	rs747354796	missense variant	-	NC_000014.9:g.94314074G>T	ExAC,gnomAD
SERPINA6	P08185	p.Pro192Ser	rs1338852515	missense variant	-	NC_000014.9:g.94314075G>A	gnomAD
SERPINA6	P08185	p.Ala193Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314071G>A	NCI-TCGA
SERPINA6	P08185	p.Val196Ile	rs747671539	missense variant	-	NC_000014.9:g.94314063C>T	NCI-TCGA,NCI-TCGA Cosmic
SERPINA6	P08185	p.Val196Ile	rs747671539	missense variant	-	NC_000014.9:g.94314063C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val198Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94314057C>T	NCI-TCGA
SERPINA6	P08185	p.Tyr200Cys	rs754482221	missense variant	-	NC_000014.9:g.94314050T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile201Val	rs367840035	missense variant	-	NC_000014.9:g.94314048T>C	ESP,gnomAD
SERPINA6	P08185	p.Phe203Leu	rs766006279	missense variant	-	NC_000014.9:g.94314042A>G	ExAC
SERPINA6	P08185	p.Gly205Ser	COSM3499299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314036C>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Thr206Lys	rs750663821	missense variant	-	NC_000014.9:g.94310003G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Trp207Arg	rs1037407899	missense variant	-	NC_000014.9:g.94310001A>G	TOPMed
SERPINA6	P08185	p.Trp207Cys	rs1265997694	missense variant	-	NC_000014.9:g.94309999C>A	TOPMed,gnomAD
SERPINA6	P08185	p.Thr208Ile	rs1192077233	missense variant	-	NC_000014.9:g.94309997G>A	gnomAD
SERPINA6	P08185	p.Gln209Glu	rs142314764	missense variant	-	NC_000014.9:g.94309995G>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gln209Pro	rs148747799	missense variant	-	NC_000014.9:g.94309994T>G	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Pro210Arg	rs762168966	missense variant	-	NC_000014.9:g.94309991G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro210Ser	rs1283017247	missense variant	-	NC_000014.9:g.94309992G>A	gnomAD
SERPINA6	P08185	p.Leu213Arg	rs774641088	missense variant	-	NC_000014.9:g.94309982A>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu213Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94309983G>T	NCI-TCGA
SERPINA6	P08185	p.Arg217Thr	rs144992509	missense variant	-	NC_000014.9:g.94309970C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Glu218Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.94309968C>A	NCI-TCGA
SERPINA6	P08185	p.Glu219Gly	rs775826357	missense variant	-	NC_000014.9:g.94309964T>C	ExAC,gnomAD
SERPINA6	P08185	p.Asn220Asp	rs1354259172	missense variant	-	NC_000014.9:g.94309962T>C	TOPMed
SERPINA6	P08185	p.Asn220Ile	rs769392840	missense variant	-	NC_000014.9:g.94309961T>A	ExAC,gnomAD
SERPINA6	P08185	p.Phe221Ile	COSM6141346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94309959A>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Val223Ala	rs745324496	missense variant	-	NC_000014.9:g.94309952A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp224Asn	rs781027025	stop gained	-	NC_000014.9:g.94309950C>T	NCI-TCGA,NCI-TCGA Cosmic
SERPINA6	P08185	p.Asp224Asn	rs781027025	missense variant	-	NC_000014.9:g.94309950C>T	ExAC
SERPINA6	P08185	p.Glu225Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.94309947C>A	NCI-TCGA
SERPINA6	P08185	p.Glu225Lys	rs370762935	missense variant	-	NC_000014.9:g.94309947C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val228Gly	rs1388905843	missense variant	-	NC_000014.9:g.94309937A>C	gnomAD
SERPINA6	P08185	p.Lys230Arg	rs1313723185	missense variant	-	NC_000014.9:g.94309931T>C	TOPMed
SERPINA6	P08185	p.Val231Met	rs1164415645	missense variant	-	NC_000014.9:g.94309929C>T	gnomAD
SERPINA6	P08185	p.Pro232Ser	rs746818305	missense variant	-	NC_000014.9:g.94309926G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro232His	rs1426136858	missense variant	-	NC_000014.9:g.94309925G>T	gnomAD
SERPINA6	P08185	p.Met233Val	rs777769941	missense variant	-	NC_000014.9:g.94309923T>C	ExAC,gnomAD
SERPINA6	P08185	p.Met233Thr	rs758124674	missense variant	-	NC_000014.9:g.94309922A>G	ExAC,gnomAD
SERPINA6	P08185	p.Met233Arg	rs758124674	missense variant	-	NC_000014.9:g.94309922A>C	ExAC,gnomAD
SERPINA6	P08185	p.Met233Ile	rs752721162	missense variant	-	NC_000014.9:g.94309921C>T	ExAC
SERPINA6	P08185	p.Met234Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94309919A>G	NCI-TCGA
SERPINA6	P08185	p.Met234Ile	rs1482984628	missense variant	-	NC_000014.9:g.94309918C>G	TOPMed
SERPINA6	P08185	p.Ser237Trp	rs756246894	missense variant	-	NC_000014.9:g.94309910G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser237Leu	rs756246894	missense variant	-	NC_000014.9:g.94309910G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser238Asn	rs767739597	missense variant	-	NC_000014.9:g.94309907C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr239Ser	rs764555427	missense variant	-	NC_000014.9:g.94309904G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr239Ala	rs757533020	missense variant	-	NC_000014.9:g.94309905T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr239Ile	rs764555427	missense variant	-	NC_000014.9:g.94309904G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser241Asn	rs763202082	missense variant	-	NC_000014.9:g.94309898C>T	ExAC,gnomAD
SERPINA6	P08185	p.Ser241Gly	rs1212582054	missense variant	-	NC_000014.9:g.94309899T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Leu243Phe	rs776085185	missense variant	-	NC_000014.9:g.94309893G>A	ExAC,gnomAD
SERPINA6	P08185	p.Leu243Pro	rs1368821406	missense variant	-	NC_000014.9:g.94309892A>G	gnomAD
SERPINA6	P08185	p.His244Arg	rs1325477013	missense variant	-	NC_000014.9:g.94309889T>C	gnomAD
SERPINA6	P08185	p.Asp245Glu	rs765624279	missense variant	-	NC_000014.9:g.94309885G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser246Thr	rs2228541	missense variant	-	NC_000014.9:g.94309884A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser246Ala	rs2228541	missense variant	-	NC_000014.9:g.94309884A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser246Ala	rs2228541	missense variant	-	NC_000014.9:g.94309884A>C	UniProt,dbSNP
SERPINA6	P08185	p.Ser246Ala	VAR_024350	missense variant	-	NC_000014.9:g.94309884A>C	UniProt
SERPINA6	P08185	p.Ser246Leu	rs1329784214	missense variant	-	NC_000014.9:g.94309883G>A	TOPMed,gnomAD
SERPINA6	P08185	p.Glu247Gly	rs1035749123	missense variant	-	NC_000014.9:g.94309880T>C	TOPMed,gnomAD
SERPINA6	P08185	p.del247TerValSerGluTrpMetGlyGluTerValAsnGlyGluTer	rs751337215	stop gained	-	NC_000014.9:g.94309881_94309882insTCATTCTCCATTCACTCACTCACCCATCCATTCACTCACTCA	ExAC
SERPINA6	P08185	p.Pro249Thr	rs746726203	missense variant	-	NC_000014.9:g.94309875G>T	ExAC,gnomAD
SERPINA6	P08185	p.Cys250Gly	rs1392659979	missense variant	-	NC_000014.9:g.94309872A>C	TOPMed,gnomAD
SERPINA6	P08185	p.Leu252Met	rs1192452192	missense variant	-	NC_000014.9:g.94309866G>T	gnomAD
SERPINA6	P08185	p.Leu252Val	rs1192452192	missense variant	-	NC_000014.9:g.94309866G>C	gnomAD
SERPINA6	P08185	p.Met255Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94309855C>A	NCI-TCGA
SERPINA6	P08185	p.Tyr257Cys	rs751154079	missense variant	-	NC_000014.9:g.94309850T>C	ExAC,gnomAD
SERPINA6	P08185	p.Tyr257His	rs1002170347	missense variant	-	NC_000014.9:g.94309851A>G	TOPMed
SERPINA6	P08185	p.Val258Met	rs778913169	missense variant	-	NC_000014.9:g.94309848C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val258Leu	rs778913169	missense variant	-	NC_000014.9:g.94309848C>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly259Val	rs754814260	missense variant	-	NC_000014.9:g.94309844C>A	ExAC,gnomAD
SERPINA6	P08185	p.Gly259Ser	rs1458251726	missense variant	-	NC_000014.9:g.94309845C>T	TOPMed
SERPINA6	P08185	p.Asn260Lys	rs749209941	missense variant	-	NC_000014.9:g.94309840A>C	ExAC,gnomAD
SERPINA6	P08185	p.Val263Ile	rs1345831949	missense variant	-	NC_000014.9:g.94309833C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ile266Thr	rs781312328	missense variant	-	NC_000014.9:g.94309823A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile266Asn	rs781312328	missense variant	-	NC_000014.9:g.94309823A>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro268Leu	rs201880274	missense variant	-	NC_000014.9:g.94309817G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro268Gln	rs201880274	missense variant	-	NC_000014.9:g.94309817G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp269Asn	rs1401005982	missense variant	-	NC_000014.9:g.94309815C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Asp269Gly	rs758825244	missense variant	-	NC_000014.9:g.94309814T>C	ExAC,gnomAD
SERPINA6	P08185	p.Lys270Glu	rs1023481849	missense variant	-	NC_000014.9:g.94309812T>C	TOPMed
SERPINA6	P08185	p.Lys272Asn	rs752941156	missense variant	-	NC_000014.9:g.94309804C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met273Ile	rs1085307658	missense variant	-	NC_000014.9:g.94309801C>T	gnomAD
SERPINA6	P08185	p.Met273Ile	RCV000489584	missense variant	-	NC_000014.9:g.94309801C>T	ClinVar
SERPINA6	P08185	p.Val276Phe	COSM6076469	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94309794C>A	NCI-TCGA Cosmic
SERPINA6	P08185	p.Val276Ile	rs1436945752	missense variant	-	NC_000014.9:g.94309794C>T	TOPMed
SERPINA6	P08185	p.Ile277Thr	rs540894794	missense variant	-	NC_000014.9:g.94309790A>G	1000Genomes,TOPMed,gnomAD
SERPINA6	P08185	p.Ile277Phe	rs201288144	missense variant	-	NC_000014.9:g.94309791T>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala278Thr	rs374119759	missense variant	-	NC_000014.9:g.94309788C>T	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Ala278Pro	rs374119759	missense variant	-	NC_000014.9:g.94309788C>G	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Arg282Gln	rs267604111	missense variant	-	NC_000014.9:g.94309775C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg282Leu	rs267604111	missense variant	-	NC_000014.9:g.94309775C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg282Trp	rs1052595763	missense variant	-	NC_000014.9:g.94309776G>A	TOPMed,gnomAD
SERPINA6	P08185	p.Asp283Glu	rs201033879	missense variant	-	NC_000014.9:g.94309771G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp283AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.94309772_94309773insATGCTGGTTGGCATTTTCTGACCCTTCTG	NCI-TCGA
SERPINA6	P08185	p.Asp283His	rs772942603	missense variant	-	NC_000014.9:g.94309773C>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp283Asn	rs772942603	missense variant	-	NC_000014.9:g.94309773C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr284Met	rs747987928	missense variant	-	NC_000014.9:g.94309769G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg287Ser	rs768493502	missense variant	-	NC_000014.9:g.94309759C>A	ExAC,gnomAD
SERPINA6	P08185	p.Trp288Ter	rs1355901960	stop gained	-	NC_000014.9:g.94309756C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ala290Thr	rs202078426	missense variant	-	NC_000014.9:g.94309752C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly291Ser	rs747049636	missense variant	-	NC_000014.9:g.94309749C>T	ExAC,gnomAD
SERPINA6	P08185	p.Ser294Gly	rs1405943011	missense variant	-	NC_000014.9:g.94309740T>C	TOPMed
SERPINA6	P08185	p.Ser295Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94306218G>C	NCI-TCGA
SERPINA6	P08185	p.Val297Ala	rs1488818353	missense variant	-	NC_000014.9:g.94306213A>G	gnomAD
SERPINA6	P08185	p.Asp298Val	rs1211981205	missense variant	-	NC_000014.9:g.94306210T>A	gnomAD
SERPINA6	P08185	p.Leu299Val	rs751466880	missense variant	-	NC_000014.9:g.94306208G>C	gnomAD
SERPINA6	P08185	p.Tyr300His	rs780718516	missense variant	-	NC_000014.9:g.94306205A>G	ExAC,gnomAD
SERPINA6	P08185	p.Ile301Val	rs374191911	missense variant	-	NC_000014.9:g.94306202T>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile301Phe	rs374191911	missense variant	-	NC_000014.9:g.94306202T>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro302Arg	rs546678080	missense variant	-	NC_000014.9:g.94306198G>C	1000Genomes,ExAC,gnomAD
SERPINA6	P08185	p.Lys303Thr	rs1295435697	missense variant	-	NC_000014.9:g.94306195T>G	gnomAD
SERPINA6	P08185	p.Lys303Arg	rs1295435697	missense variant	-	NC_000014.9:g.94306195T>C	gnomAD
SERPINA6	P08185	p.Val304Phe	rs1264863443	missense variant	-	NC_000014.9:g.94306193C>A	TOPMed
SERPINA6	P08185	p.Thr305Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94306190T>C	NCI-TCGA
SERPINA6	P08185	p.Ile306Met	rs958767649	missense variant	-	NC_000014.9:g.94306185G>C	gnomAD
SERPINA6	P08185	p.Ser307Phe	rs751190381	missense variant	-	NC_000014.9:g.94306183G>A	ExAC,gnomAD
SERPINA6	P08185	p.Gly308Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94306180C>A	NCI-TCGA
SERPINA6	P08185	p.Asp311Asn	rs1393277177	missense variant	-	NC_000014.9:g.94306172C>T	gnomAD
SERPINA6	P08185	p.Asp311Glu	rs925933723	missense variant	-	NC_000014.9:g.94306170G>T	TOPMed,gnomAD
SERPINA6	P08185	p.Gly313Arg	rs769567090	missense variant	-	NC_000014.9:g.94306166C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly313Glu	COSM3499291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306165C>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Asp314Asn	COSM3499289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306163C>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Asp314Tyr	COSM4919028	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306163C>A	NCI-TCGA Cosmic
SERPINA6	P08185	p.Asp314Val	rs1472278644	missense variant	-	NC_000014.9:g.94306162T>A	TOPMed
SERPINA6	P08185	p.Val315Leu	rs759461752	missense variant	-	NC_000014.9:g.94306160C>G	ExAC,gnomAD
SERPINA6	P08185	p.Glu318Gln	rs1379812047	missense variant	-	NC_000014.9:g.94306151C>G	TOPMed
SERPINA6	P08185	p.Met319Ile	rs772097363	missense variant	-	NC_000014.9:g.94306146C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile321Val	rs904139690	missense variant	-	NC_000014.9:g.94306142T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Ala322Ser	rs779312270	missense variant	-	NC_000014.9:g.94306139C>A	ExAC,gnomAD
SERPINA6	P08185	p.Ala322Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94306139C>T	NCI-TCGA
SERPINA6	P08185	p.Asp323Gly	rs749505279	missense variant	-	NC_000014.9:g.94306135T>C	ExAC,gnomAD
SERPINA6	P08185	p.Asp323Tyr	rs200758120	missense variant	-	NC_000014.9:g.94306136C>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu324Phe	rs1476045999	missense variant	-	NC_000014.9:g.94306131C>A	gnomAD
SERPINA6	P08185	p.Thr326Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94306126G>T	NCI-TCGA
SERPINA6	P08185	p.Gln328Arg	rs780628728	missense variant	-	NC_000014.9:g.94306120T>C	ExAC,gnomAD
SERPINA6	P08185	p.Ala329Glu	rs1305083030	missense variant	-	NC_000014.9:g.94306117G>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ala329Val	rs1305083030	missense variant	-	NC_000014.9:g.94306117G>A	TOPMed,gnomAD
SERPINA6	P08185	p.Asn330His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94306115T>G	NCI-TCGA
SERPINA6	P08185	p.Asn330Ser	rs756512109	missense variant	-	NC_000014.9:g.94306114T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Phe331Leu	rs746411110	missense variant	-	NC_000014.9:g.94306110G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser332Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94306109A>C	NCI-TCGA
SERPINA6	P08185	p.Arg333His	rs751013186	missense variant	-	NC_000014.9:g.94306105C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg333GlnPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000014.9:g.94306105_94306106insCAATTAGACATTTACCACTTTTCCT	NCI-TCGA
SERPINA6	P08185	p.Arg333Cys	rs200104515	missense variant	-	NC_000014.9:g.94306106G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg333Pro	rs751013186	missense variant	-	NC_000014.9:g.94306105C>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg333Gly	rs200104515	missense variant	-	NC_000014.9:g.94306106G>C	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile334Val	rs763752224	missense variant	-	NC_000014.9:g.94306103T>C	ExAC,gnomAD
SERPINA6	P08185	p.Thr335Ala	COSM1371783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306100T>C	NCI-TCGA Cosmic
SERPINA6	P08185	p.Thr335Ser	rs1207589710	missense variant	-	NC_000014.9:g.94306099G>C	TOPMed
SERPINA6	P08185	p.Gln336Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94306097G>T	NCI-TCGA
SERPINA6	P08185	p.Asp337His	COSM6076471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306094C>G	NCI-TCGA Cosmic
SERPINA6	P08185	p.Asp337Gly	rs752343239	missense variant	-	NC_000014.9:g.94306093T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp337Val	rs752343239	missense variant	-	NC_000014.9:g.94306093T>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala338Asp	rs776459446	missense variant	-	NC_000014.9:g.94306090G>T	ExAC,gnomAD
SERPINA6	P08185	p.Ala338Thr	rs759356978	missense variant	-	NC_000014.9:g.94306091C>T	ExAC,gnomAD
SERPINA6	P08185	p.Ser342Ter	COSM4862203	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.94306078G>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Ser343Ter	rs1184169975	stop gained	-	NC_000014.9:g.94306075G>T	gnomAD
SERPINA6	P08185	p.Ser343Pro	rs761805650	missense variant	-	NC_000014.9:g.94306076A>G	ExAC,gnomAD
SERPINA6	P08185	p.Val346Ala	rs537163230	missense variant	-	NC_000014.9:g.94304599A>G	1000Genomes,ExAC,gnomAD
SERPINA6	P08185	p.His347Tyr	COSM1707812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94304597G>A	NCI-TCGA Cosmic
SERPINA6	P08185	p.His347Arg	rs747555371	missense variant	-	NC_000014.9:g.94304596T>C	ExAC,gnomAD
SERPINA6	P08185	p.Lys348Glu	rs868454727	missense variant	-	NC_000014.9:g.94304594T>C	TOPMed
SERPINA6	P08185	p.Lys348Thr	rs1355733476	missense variant	-	NC_000014.9:g.94304593T>G	gnomAD
SERPINA6	P08185	p.Ala349Asp	rs1336593427	missense variant	-	NC_000014.9:g.94304590G>T	gnomAD
SERPINA6	P08185	p.Val350Leu	rs1291381602	missense variant	-	NC_000014.9:g.94304588C>A	gnomAD
SERPINA6	P08185	p.Leu353Phe	rs771596388	missense variant	-	NC_000014.9:g.94304579G>A	ExAC,gnomAD
SERPINA6	P08185	p.Asn354His	rs747620607	missense variant	-	NC_000014.9:g.94304576T>G	ExAC,gnomAD
SERPINA6	P08185	p.Asn354Ser	rs147297630	missense variant	-	NC_000014.9:g.94304575T>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Glu355Lys	rs539282396	missense variant	-	NC_000014.9:g.94304573C>T	1000Genomes
SERPINA6	P08185	p.Glu356Ala	rs758178505	missense variant	-	NC_000014.9:g.94304569T>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly357Asp	COSM3499287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94304566C>T	NCI-TCGA Cosmic
SERPINA6	P08185	p.Gly357Cys	rs571811461	missense variant	-	NC_000014.9:g.94304567C>A	1000Genomes
SERPINA6	P08185	p.Val358Met	rs1167266764	missense variant	-	NC_000014.9:g.94304564C>T	gnomAD
SERPINA6	P08185	p.Asp359Asn	rs779935948	missense variant	-	NC_000014.9:g.94304561C>T	ExAC
SERPINA6	P08185	p.Thr360Ala	rs138483168	missense variant	-	NC_000014.9:g.94304558T>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr360Pro	rs138483168	missense variant	-	NC_000014.9:g.94304558T>G	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala361Ser	rs767521744	missense variant	-	NC_000014.9:g.94304555C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr364Ile	rs747939841	missense variant	-	NC_000014.9:g.94304545G>A	gnomAD
SERPINA6	P08185	p.Thr364Asn	rs747939841	missense variant	-	NC_000014.9:g.94304545G>T	gnomAD
SERPINA6	P08185	p.Gly365Ala	rs538661274	missense variant	-	NC_000014.9:g.94304542C>G	gnomAD
SERPINA6	P08185	p.Val366Leu	rs1003696988	missense variant	-	NC_000014.9:g.94304540C>G	TOPMed,gnomAD
SERPINA6	P08185	p.Val366Phe	rs1003696988	missense variant	-	NC_000014.9:g.94304540C>A	TOPMed,gnomAD
SERPINA6	P08185	p.Thr367Asn	rs763129780	missense variant	-	NC_000014.9:g.94304536G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu368Ter	NCI-TCGA novel	frameshift	-	NC_000014.9:g.94304534G>-	NCI-TCGA
SERPINA6	P08185	p.Asn369Ile	rs1271110992	missense variant	-	NC_000014.9:g.94304530T>A	gnomAD
SERPINA6	P08185	p.Thr371Met	rs201893200	missense variant	-	NC_000014.9:g.94304524G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr371Ala	rs765216098	missense variant	-	NC_000014.9:g.94304525T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr371Lys	rs201893200	missense variant	-	NC_000014.9:g.94304524G>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Lys373Thr	rs771376602	missense variant	-	NC_000014.9:g.94304518T>G	ExAC,gnomAD
SERPINA6	P08185	p.Lys373Asn	rs528742561	missense variant	-	NC_000014.9:g.94304517C>A	1000Genomes,ExAC,gnomAD
SERPINA6	P08185	p.Lys373Glu	rs1325858103	missense variant	-	NC_000014.9:g.94304519T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Pro374Arg	rs772504845	missense variant	-	NC_000014.9:g.94304515G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro374Leu	rs772504845	missense variant	-	NC_000014.9:g.94304515G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro374Ala	rs1392545062	missense variant	-	NC_000014.9:g.94304516G>C	gnomAD
SERPINA6	P08185	p.Pro374His	rs772504845	missense variant	-	NC_000014.9:g.94304515G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile376Leu	rs1252111743	missense variant	-	NC_000014.9:g.94304510T>G	TOPMed
SERPINA6	P08185	p.Arg378His	rs149012523	missense variant	-	NC_000014.9:g.94304503C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg378Ser	rs1166623585	missense variant	-	NC_000014.9:g.94304504G>T	gnomAD
SERPINA6	P08185	p.Arg378Cys	rs1166623585	missense variant	-	NC_000014.9:g.94304504G>A	gnomAD
SERPINA6	P08185	p.Phe379Cys	rs749014347	missense variant	-	NC_000014.9:g.94304500A>C	ExAC,gnomAD
SERPINA6	P08185	p.Phe379Leu	rs1193709022	missense variant	-	NC_000014.9:g.94304499G>C	gnomAD
SERPINA6	P08185	p.Asn380His	rs779518994	missense variant	-	NC_000014.9:g.94304498T>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gln381Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94304495G>T	NCI-TCGA
SERPINA6	P08185	p.Pro382Thr	rs756004082	missense variant	-	NC_000014.9:g.94304492G>T	ExAC,gnomAD
SERPINA6	P08185	p.Pro382Leu	rs1410538357	missense variant	-	NC_000014.9:g.94304491G>A	TOPMed
SERPINA6	P08185	p.Ile385Val	rs781290846	missense variant	-	NC_000014.9:g.94304483T>C	ExAC,gnomAD
SERPINA6	P08185	p.Met386Val	rs757320230	missense variant	-	NC_000014.9:g.94304480T>C	ExAC
SERPINA6	P08185	p.Met386Ile	rs954879793	missense variant	-	NC_000014.9:g.94304478C>A	TOPMed
SERPINA6	P08185	p.Met386Thr	rs1353331345	missense variant	-	NC_000014.9:g.94304479A>G	TOPMed
SERPINA6	P08185	p.Asp389Asn	RCV000018496	missense variant	Corticosteroid-binding globulin deficiency	NC_000014.9:g.94304471C>T	ClinVar
SERPINA6	P08185	p.Asp389Asn	rs28929488	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94304471C>T	UniProt,dbSNP
SERPINA6	P08185	p.Asp389Asn	VAR_016223	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94304471C>T	UniProt
SERPINA6	P08185	p.Asp389Asn	rs28929488	missense variant	-	NC_000014.9:g.94304471C>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Phe391SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.94304466G>-	NCI-TCGA
SERPINA6	P08185	p.Thr392Asn	rs765400237	missense variant	-	NC_000014.9:g.94304461G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr392Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94304461G>A	NCI-TCGA
SERPINA6	P08185	p.Trp393Arg	rs1362215393	missense variant	-	NC_000014.9:g.94304459A>G	TOPMed
SERPINA6	P08185	p.Ser394Asn	rs759512800	missense variant	-	NC_000014.9:g.94304455C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser394Arg	rs1270243704	missense variant	-	NC_000014.9:g.94304454G>T	TOPMed
SERPINA6	P08185	p.Leu396Pro	rs1323470584	missense variant	-	NC_000014.9:g.94304449A>G	TOPMed
SERPINA6	P08185	p.Phe397Leu	COSM1371777	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94304445G>C	NCI-TCGA Cosmic
SERPINA6	P08185	p.Leu398Arg	rs754112917	missense variant	-	NC_000014.9:g.94304443A>C	ExAC,gnomAD
SERPINA6	P08185	p.Ala399Val	rs766474893	missense variant	-	NC_000014.9:g.94304440G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala399Glu	rs766474893	missense variant	-	NC_000014.9:g.94304440G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala399Pro	rs1022163339	missense variant	-	NC_000014.9:g.94304441C>G	TOPMed,gnomAD
SERPINA6	P08185	p.Ala399Thr	rs1022163339	missense variant	-	NC_000014.9:g.94304441C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Arg400Lys	rs1356585349	missense variant	-	NC_000014.9:g.94304437C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Val401Ala	rs772415332	missense variant	-	NC_000014.9:g.94304434A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val401Phe	rs773510193	missense variant	-	NC_000014.9:g.94304435C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro404Leu	rs762344771	missense variant	-	NC_000014.9:g.94304425G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro404Gln	rs762344771	missense variant	-	NC_000014.9:g.94304425G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val405Met	rs774695483	missense variant	-	NC_000014.9:g.94304423C>T	ExAC,gnomAD
SERPINA6	P08185	p.ValTer405ValUnk	rs1314151166	stop lost	-	NC_000014.9:g.94304422_94304423del	gnomAD
SERPINA6	P08185	p.Ter406GluGluUnkThrTerUnkUnk	COSM1477871	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.94304420A>C	NCI-TCGA Cosmic
SERPINA6	P08185	p.Ter406LeuUnk	rs765267898	stop lost	-	NC_000014.9:g.94304420dup	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro2Gln	rs763107074	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314644G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu5Pro	rs752853327	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314635A>G	ExAC
SERPINA6	P08185	p.Thr7Ile	rs1287480013	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314629G>A	TOPMed
SERPINA6	P08185	p.Thr7Pro	rs1330298936	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314630T>G	gnomAD
SERPINA6	P08185	p.Cys8Phe	rs139544351	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314626C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu9Phe	rs150568135	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314624G>A	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Leu9Ile	rs150568135	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314624G>T	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Trp11Ter	rs771517988	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314616C>T	ExAC,gnomAD
SERPINA6	P08185	p.Trp11Ter	rs777245398	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314617C>T	ExAC,gnomAD
SERPINA6	P08185	p.Pro13Leu	rs1237575015	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314611G>A	gnomAD
SERPINA6	P08185	p.Pro13Ser	rs772782016	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314612G>A	ExAC,gnomAD
SERPINA6	P08185	p.Thr14Ile	rs142631353	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314608G>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr14Ser	rs142631353	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314608G>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser15Gly	rs747876567	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314606T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser15Arg	rs768544398	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314604G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly16Ser	rs748984466	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314603C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly16Cys	rs748984466	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314603C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu17His	rs998572459	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314599A>T	TOPMed
SERPINA6	P08185	p.Trp18Arg	rs1288807821	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314597A>G	gnomAD
SERPINA6	P08185	p.Val20Ile	rs139446936	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314591C>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gln21Ter	rs371119681	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314588G>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met23Thr	rs1300550199	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314581A>G	TOPMed
SERPINA6	P08185	p.Pro25Ser	rs146176684	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314576G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala27Thr	rs753007057	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314570C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala28Val	rs1385354738	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314566G>A	gnomAD
SERPINA6	P08185	p.Tyr29Ter	rs1301766188	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314562A>T	TOPMed
SERPINA6	P08185	p.Tyr29Asn	rs1299969579	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314564A>T	gnomAD
SERPINA6	P08185	p.Met32Leu	rs755394835	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314555T>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser33Ile	rs776422169	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314551C>A	TOPMed
SERPINA6	P08185	p.Asn34Lys	rs1379599510	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314547G>C	TOPMed,gnomAD
SERPINA6	P08185	p.His36Pro	rs148218218	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314542T>G	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.His36Arg	rs148218218	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314542T>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.His36Gln	rs143058829	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314541G>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg37Trp	rs201703843	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314540G>A	1000Genomes,TOPMed
SERPINA6	P08185	p.Arg37Gln	rs199612438	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314539C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly38Cys	rs767174033	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314537C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly38Ser	rs767174033	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314537C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly38Val	rs761204701	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314536C>A	ExAC,TOPMed
SERPINA6	P08185	p.Leu39Val	rs768150666	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314534G>C	ExAC,gnomAD
SERPINA6	P08185	p.Ser41Ala	rs1432227317	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314528A>C	TOPMed
SERPINA6	P08185	p.Ala42Val	rs1488280921	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314524G>A	gnomAD
SERPINA6	P08185	p.Asn43Lys	rs749109208	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314520G>T	ExAC,gnomAD
SERPINA6	P08185	p.Asn43Asp	rs1293105465	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314522T>C	gnomAD
SERPINA6	P08185	p.Val44Ile	rs750000108	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314519C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val44Ala	rs537835110	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314518A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala47Val	rs1429771898	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314509G>A	TOPMed
SERPINA6	P08185	p.Tyr51Cys	rs1279922831	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314497T>C	gnomAD
SERPINA6	P08185	p.His53Pro	rs1397908293	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314491T>G	gnomAD
SERPINA6	P08185	p.Val55Glu	rs1359866404	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314485A>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ala56Asp	rs1484736032	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314482G>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ser58Cys	rs758525045	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314477T>A	ExAC,gnomAD
SERPINA6	P08185	p.Lys61Asn	rs748129916	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314466C>A	ExAC,gnomAD
SERPINA6	P08185	p.Asn62Ser	rs1192007952	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314464T>C	gnomAD
SERPINA6	P08185	p.Phe64Cys	rs1257561313	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314458A>C	gnomAD
SERPINA6	P08185	p.Ile65Val	rs1203867726	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314456T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Ile65Phe	rs1203867726	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314456T>A	TOPMed,gnomAD
SERPINA6	P08185	p.Ser66Ala	rs1477689690	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314453A>C	gnomAD
SERPINA6	P08185	p.Pro67Leu	rs1003009602	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314449G>A	TOPMed,gnomAD
SERPINA6	P08185	p.Val68Met	rs922608302	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314447C>T	TOPMed
SERPINA6	P08185	p.Ile70Asn	rs370353870	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314440A>T	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Met72Thr	rs199720892	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314434A>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met72Val	rs1452840521	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314435T>C	gnomAD
SERPINA6	P08185	p.Ala73Val	rs146744332	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314431G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr85Ile	rs751015476	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314395G>A	ExAC,gnomAD
SERPINA6	P08185	p.Arg86Leu	rs199541890	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314392C>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg86Gln	rs199541890	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314392C>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg86Trp	rs199699199	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314393G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala87Thr	rs1402795109	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314390C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Leu90Phe	rs775123612	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314381G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu90Ile	rs775123612	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314381G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly92Ser	rs1433974024	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314375C>T	TOPMed
SERPINA6	P08185	p.Leu97Ile	rs1246633584	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314360G>T	gnomAD
SERPINA6	P08185	p.Arg100Lys	rs922069031	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314350C>T	TOPMed
SERPINA6	P08185	p.Arg100Thr	rs922069031	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314350C>G	TOPMed
SERPINA6	P08185	p.Glu102Asp	rs1196320141	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314343C>G	gnomAD
SERPINA6	P08185	p.Glu102Lys	rs776573032	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314345C>T	ExAC,gnomAD
SERPINA6	P08185	p.Thr103Ser	rs770736077	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314341G>C	ExAC,gnomAD
SERPINA6	P08185	p.Glu104Asp	rs1278995218	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314337C>A	gnomAD
SERPINA6	P08185	p.His106Arg	rs1220722003	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314332T>C	gnomAD
SERPINA6	P08185	p.Gln107Ter	rs1012631736	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314330G>A	TOPMed
SERPINA6	P08185	p.Gln107His	rs1219781994	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314328C>G	TOPMed
SERPINA6	P08185	p.Gly108Val	rs1274161889	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314326C>A	gnomAD
SERPINA6	P08185	p.Phe109Leu	rs748264131	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314324A>G	ExAC,gnomAD
SERPINA6	P08185	p.Gln110Ter	rs778802358	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314321G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.His111Gln	rs776044619	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314316G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.His111Tyr	rs187253929	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314318G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu112Gln	rs1245822115	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314314A>T	TOPMed
SERPINA6	P08185	p.His113Arg	rs1426697130	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314311T>C	gnomAD
SERPINA6	P08185	p.Leu115His	RCV000479165	missense variant	-	NC_000014.9:g.94314305A>T	ClinVar
SERPINA6	P08185	p.Leu115Ile	rs756569160	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314306G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu115His	rs113418909	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314305A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu115His	rs113418909	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94314305A>T	UniProt,dbSNP
SERPINA6	P08185	p.Leu115His	VAR_007111	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94314305A>T	UniProt
SERPINA6	P08185	p.Phe116Leu	rs1460592467	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314301A>C	gnomAD
SERPINA6	P08185	p.Lys118Arg	rs1160993967	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314296T>C	TOPMed
SERPINA6	P08185	p.Asp120His	rs377478491	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314291C>G	ESP,ExAC
SERPINA6	P08185	p.Thr121Ser	rs1159602844	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314287G>C	TOPMed,gnomAD
SERPINA6	P08185	p.Glu124Gly	rs202107375	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314278T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met127Val	rs763581643	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314270T>C	ExAC,gnomAD
SERPINA6	P08185	p.Met127Ile	rs752400429	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314268C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met127Thr	rs762497186	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314269A>G	ExAC,gnomAD
SERPINA6	P08185	p.Gly128Val	rs1212019872	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314266C>A	gnomAD
SERPINA6	P08185	p.Ala130Thr	rs1310172418	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314261C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ala130Val	rs764824086	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314260G>A	ExAC,gnomAD
SERPINA6	P08185	p.Ser136Arg	rs576835982	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314241G>C	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu139Phe	rs760589588	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314232C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Glu141Lys	rs773169450	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314228C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Glu141Ter	rs773169450	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314228C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser142Leu	rs768665551	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314224G>A	ExAC,gnomAD
SERPINA6	P08185	p.Ala145Gly	rs749331141	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314215G>C	ExAC,gnomAD
SERPINA6	P08185	p.Ile147Val	rs1421995088	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314210T>C	gnomAD
SERPINA6	P08185	p.Lys148Asn	rs1156373008	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314205C>A	TOPMed,gnomAD
SERPINA6	P08185	p.Tyr151Cys	rs760917391	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314197T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Glu152Lys	rs1183201844	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314195C>T	gnomAD
SERPINA6	P08185	p.Ser153Thr	rs374185317	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314192A>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser153Leu	rs141500229	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314191G>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val155Asp	rs1453918017	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314185A>T	TOPMed,gnomAD
SERPINA6	P08185	p.Val155Ile	rs1489270021	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314186C>T	gnomAD
SERPINA6	P08185	p.Val155Ala	rs1453918017	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314185A>G	TOPMed,gnomAD
SERPINA6	P08185	p.Asn159Ser	rs757873099	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314173T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gln161Ter	rs752163522	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314168G>A	ExAC,gnomAD
SERPINA6	P08185	p.Trp163Ser	rs561845008	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314161C>G	ExAC,gnomAD
SERPINA6	P08185	p.Trp163Ter	rs561845008	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314161C>T	ExAC,gnomAD
SERPINA6	P08185	p.Trp163Ter	rs759133022	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314160C>T	ExAC,gnomAD
SERPINA6	P08185	p.Trp163Arg	rs376846419	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314162A>G	ESP
SERPINA6	P08185	p.Ser167Asn	rs766126799	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314149C>T	ExAC,gnomAD
SERPINA6	P08185	p.Arg168Ter	rs1359225041	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314147T>A	gnomAD
SERPINA6	P08185	p.Gln169His	rs760494725	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314142C>G	ExAC,gnomAD
SERPINA6	P08185	p.Ile170Phe	rs773046265	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314141T>A	ExAC,gnomAD
SERPINA6	P08185	p.Asn171Lys	rs1052759090	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314136G>T	gnomAD
SERPINA6	P08185	p.Tyr173Asn	rs777877328	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314132A>T	ExAC
SERPINA6	P08185	p.Lys175Asn	rs775649161	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314124C>G	ExAC,gnomAD
SERPINA6	P08185	p.Gln179Glu	rs1382498213	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314114G>C	TOPMed,gnomAD
SERPINA6	P08185	p.Gly180Glu	rs769978145	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314110C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Lys181Glu	rs1215754630	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314108T>C	gnomAD
SERPINA6	P08185	p.Ile182Thr	rs746155857	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314104A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp184Asn	rs182173676	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314099C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp184Tyr	rs182173676	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314099C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp190His	rs1321415815	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314081C>G	gnomAD
SERPINA6	P08185	p.Ser191Thr	rs1220896385	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314077C>G	TOPMed,gnomAD
SERPINA6	P08185	p.Ser191Asn	rs1220896385	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314077C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Pro192Ser	rs1338852515	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314075G>A	gnomAD
SERPINA6	P08185	p.Pro192Gln	rs747354796	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314074G>T	ExAC,gnomAD
SERPINA6	P08185	p.Val196Ile	rs747671539	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314063C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Tyr200Cys	rs754482221	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314050T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile201Val	rs367840035	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314048T>C	ESP,gnomAD
SERPINA6	P08185	p.Phe203Leu	rs766006279	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314042A>G	ExAC
SERPINA6	P08185	p.Thr206Lys	rs750663821	missense variant	-	CHR_HSCHR14_7_CTG1:g.94310003G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Trp207Cys	rs1265997694	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309999C>A	TOPMed,gnomAD
SERPINA6	P08185	p.Trp207Arg	rs1037407899	missense variant	-	CHR_HSCHR14_7_CTG1:g.94310001A>G	TOPMed
SERPINA6	P08185	p.Thr208Ile	rs1192077233	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309997G>A	gnomAD
SERPINA6	P08185	p.Gln209Pro	rs148747799	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309994T>G	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Gln209Glu	rs142314764	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309995G>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro210Ser	rs1283017247	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309992G>A	gnomAD
SERPINA6	P08185	p.Pro210Arg	rs762168966	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309991G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Leu213Arg	rs774641088	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309982A>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg217Thr	rs144992509	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309970C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Glu219Gly	rs775826357	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309964T>C	ExAC,gnomAD
SERPINA6	P08185	p.Asn220Asp	rs1354259172	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309962T>C	TOPMed
SERPINA6	P08185	p.Asn220Ile	rs769392840	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309961T>A	ExAC,gnomAD
SERPINA6	P08185	p.Val223Ala	rs745324496	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309952A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp224Asn	rs781027025	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309950C>T	ExAC
SERPINA6	P08185	p.Glu225Lys	rs370762935	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309947C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val228Gly	rs1388905843	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309937A>C	gnomAD
SERPINA6	P08185	p.Lys230Arg	rs1313723185	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309931T>C	TOPMed
SERPINA6	P08185	p.Val231Met	rs1164415645	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309929C>T	gnomAD
SERPINA6	P08185	p.Pro232His	rs1426136858	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309925G>T	gnomAD
SERPINA6	P08185	p.Pro232Ser	rs746818305	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309926G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met233Ile	rs752721162	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309921C>T	ExAC
SERPINA6	P08185	p.Met233Thr	rs758124674	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309922A>G	ExAC,gnomAD
SERPINA6	P08185	p.Met233Val	rs777769941	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309923T>C	ExAC,gnomAD
SERPINA6	P08185	p.Met233Arg	rs758124674	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309922A>C	ExAC,gnomAD
SERPINA6	P08185	p.Met234Ile	rs1482984628	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309918C>G	TOPMed
SERPINA6	P08185	p.Ser237Trp	rs756246894	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309910G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser237Leu	rs756246894	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309910G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser238Asn	rs767739597	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309907C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr239Ala	rs757533020	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309905T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr239Ile	rs764555427	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309904G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr239Ser	rs764555427	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309904G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser241Asn	rs763202082	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309898C>T	ExAC,gnomAD
SERPINA6	P08185	p.Ser241Gly	rs1212582054	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309899T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Leu243Pro	rs1368821406	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309892A>G	gnomAD
SERPINA6	P08185	p.Leu243Phe	rs776085185	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309893G>A	ExAC,gnomAD
SERPINA6	P08185	p.His244Arg	rs1325477013	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309889T>C	gnomAD
SERPINA6	P08185	p.Asp245Glu	rs765624279	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309885G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser246Ala	rs2228541	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309884A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser246Ala	rs2228541	missense variant	-	NC_000014.9:g.94309884A>C	UniProt,dbSNP
SERPINA6	P08185	p.Ser246Ala	VAR_024350	missense variant	-	NC_000014.9:g.94309884A>C	UniProt
SERPINA6	P08185	p.Ser246Leu	rs1329784214	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309883G>A	TOPMed,gnomAD
SERPINA6	P08185	p.Ser246Thr	rs2228541	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309884A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Glu247Gly	rs1035749123	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309880T>C	TOPMed,gnomAD
SERPINA6	P08185	p.del247TerValSerGluTrpMetGlyGluTerValAsnGlyGluTer	rs751337215	stop gained	-	CHR_HSCHR14_7_CTG1:g.94309881_94309882insTCATTCTCCATTCACTCACTCACCCATCCATTCACTCACTCA	ExAC
SERPINA6	P08185	p.Pro249Thr	rs746726203	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309875G>T	ExAC,gnomAD
SERPINA6	P08185	p.Cys250Gly	rs1392659979	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309872A>C	TOPMed,gnomAD
SERPINA6	P08185	p.Leu252Val	rs1192452192	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309866G>C	gnomAD
SERPINA6	P08185	p.Leu252Met	rs1192452192	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309866G>T	gnomAD
SERPINA6	P08185	p.Tyr257Cys	rs751154079	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309850T>C	ExAC,gnomAD
SERPINA6	P08185	p.Tyr257His	rs1002170347	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309851A>G	TOPMed
SERPINA6	P08185	p.Val258Met	rs778913169	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309848C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val258Leu	rs778913169	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309848C>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly259Val	rs754814260	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309844C>A	ExAC,gnomAD
SERPINA6	P08185	p.Gly259Ser	rs1458251726	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309845C>T	TOPMed
SERPINA6	P08185	p.Asn260Lys	rs749209941	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309840A>C	ExAC,gnomAD
SERPINA6	P08185	p.Val263Ile	rs1345831949	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309833C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ile266Asn	rs781312328	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309823A>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile266Thr	rs781312328	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309823A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro268Gln	rs201880274	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309817G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro268Leu	rs201880274	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309817G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp269Gly	rs758825244	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309814T>C	ExAC,gnomAD
SERPINA6	P08185	p.Asp269Asn	rs1401005982	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309815C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Lys270Glu	rs1023481849	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309812T>C	TOPMed
SERPINA6	P08185	p.Lys272Asn	rs752941156	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309804C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Met273Ile	rs1085307658	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309801C>T	gnomAD
SERPINA6	P08185	p.Met273Ile	RCV000489584	missense variant	-	NC_000014.9:g.94309801C>T	ClinVar
SERPINA6	P08185	p.Val276Ile	rs1436945752	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309794C>T	TOPMed
SERPINA6	P08185	p.Ile277Phe	rs201288144	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309791T>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile277Thr	rs540894794	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309790A>G	1000Genomes,TOPMed,gnomAD
SERPINA6	P08185	p.Ala278Thr	rs374119759	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309788C>T	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Ala278Pro	rs374119759	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309788C>G	ESP,TOPMed,gnomAD
SERPINA6	P08185	p.Arg282Trp	rs1052595763	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309776G>A	TOPMed,gnomAD
SERPINA6	P08185	p.Arg282Leu	rs267604111	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309775C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg282Gln	rs267604111	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309775C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp283His	rs772942603	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309773C>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp283Asn	rs772942603	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309773C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp283Glu	rs201033879	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309771G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr284Met	rs747987928	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309769G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg287Ser	rs768493502	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309759C>A	ExAC,gnomAD
SERPINA6	P08185	p.Trp288Ter	rs1355901960	stop gained	-	CHR_HSCHR14_7_CTG1:g.94309756C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ala290Thr	rs202078426	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309752C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly291Ser	rs747049636	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309749C>T	ExAC,gnomAD
SERPINA6	P08185	p.Ser294Gly	rs1405943011	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309740T>C	TOPMed
SERPINA6	P08185	p.Val297Ala	rs1488818353	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306213A>G	gnomAD
SERPINA6	P08185	p.Asp298Val	rs1211981205	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306210T>A	gnomAD
SERPINA6	P08185	p.Leu299Val	rs751466880	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306208G>C	gnomAD
SERPINA6	P08185	p.Tyr300His	rs780718516	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306205A>G	ExAC,gnomAD
SERPINA6	P08185	p.Ile301Phe	rs374191911	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306202T>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile301Val	rs374191911	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306202T>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro302Arg	rs546678080	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306198G>C	1000Genomes,ExAC,gnomAD
SERPINA6	P08185	p.Lys303Arg	rs1295435697	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306195T>C	gnomAD
SERPINA6	P08185	p.Lys303Thr	rs1295435697	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306195T>G	gnomAD
SERPINA6	P08185	p.Val304Phe	rs1264863443	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306193C>A	TOPMed
SERPINA6	P08185	p.Ile306Met	rs958767649	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306185G>C	gnomAD
SERPINA6	P08185	p.Ser307Phe	rs751190381	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306183G>A	ExAC,gnomAD
SERPINA6	P08185	p.Asp311Asn	rs1393277177	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306172C>T	gnomAD
SERPINA6	P08185	p.Asp311Glu	rs925933723	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306170G>T	TOPMed,gnomAD
SERPINA6	P08185	p.Gly313Arg	rs769567090	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306166C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp314Val	rs1472278644	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306162T>A	TOPMed
SERPINA6	P08185	p.Val315Leu	rs759461752	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306160C>G	ExAC,gnomAD
SERPINA6	P08185	p.Glu318Gln	rs1379812047	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306151C>G	TOPMed
SERPINA6	P08185	p.Met319Ile	rs772097363	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306146C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile321Val	rs904139690	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306142T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Ala322Ser	rs779312270	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306139C>A	ExAC,gnomAD
SERPINA6	P08185	p.Asp323Tyr	rs200758120	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306136C>A	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp323Gly	rs749505279	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306135T>C	ExAC,gnomAD
SERPINA6	P08185	p.Leu324Phe	rs1476045999	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306131C>A	gnomAD
SERPINA6	P08185	p.Gln328Arg	rs780628728	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306120T>C	ExAC,gnomAD
SERPINA6	P08185	p.Ala329Val	rs1305083030	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306117G>A	TOPMed,gnomAD
SERPINA6	P08185	p.Ala329Glu	rs1305083030	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306117G>T	TOPMed,gnomAD
SERPINA6	P08185	p.Asn330Ser	rs756512109	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306114T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Phe331Leu	rs746411110	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306110G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg333Gly	rs200104515	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306106G>C	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg333His	rs751013186	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306105C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg333Cys	rs200104515	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306106G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg333Pro	rs751013186	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306105C>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile334Val	rs763752224	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306103T>C	ExAC,gnomAD
SERPINA6	P08185	p.Thr335Ser	rs1207589710	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306099G>C	TOPMed
SERPINA6	P08185	p.Asp337Val	rs752343239	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306093T>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asp337Gly	rs752343239	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306093T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala338Asp	rs776459446	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306090G>T	ExAC,gnomAD
SERPINA6	P08185	p.Ala338Thr	rs759356978	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306091C>T	ExAC,gnomAD
SERPINA6	P08185	p.Ser343Pro	rs761805650	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306076A>G	ExAC,gnomAD
SERPINA6	P08185	p.Ser343Ter	rs1184169975	stop gained	-	CHR_HSCHR14_7_CTG1:g.94306075G>T	gnomAD
SERPINA6	P08185	p.Val346Ala	rs537163230	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304599A>G	1000Genomes,ExAC,gnomAD
SERPINA6	P08185	p.His347Arg	rs747555371	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304596T>C	ExAC,gnomAD
SERPINA6	P08185	p.Lys348Thr	rs1355733476	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304593T>G	gnomAD
SERPINA6	P08185	p.Lys348Glu	rs868454727	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304594T>C	TOPMed
SERPINA6	P08185	p.Ala349Asp	rs1336593427	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304590G>T	gnomAD
SERPINA6	P08185	p.Val350Leu	rs1291381602	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304588C>A	gnomAD
SERPINA6	P08185	p.Leu353Phe	rs771596388	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304579G>A	ExAC,gnomAD
SERPINA6	P08185	p.Asn354Ser	rs147297630	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304575T>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asn354His	rs747620607	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304576T>G	ExAC,gnomAD
SERPINA6	P08185	p.Glu355Lys	rs539282396	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304573C>T	1000Genomes
SERPINA6	P08185	p.Glu356Ala	rs758178505	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304569T>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Gly357Cys	rs571811461	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304567C>A	1000Genomes
SERPINA6	P08185	p.Val358Met	rs1167266764	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304564C>T	gnomAD
SERPINA6	P08185	p.Asp359Asn	rs779935948	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304561C>T	ExAC
SERPINA6	P08185	p.Thr360Pro	rs138483168	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304558T>G	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr360Ala	rs138483168	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304558T>C	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala361Ser	rs767521744	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304555C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr364Asn	rs747939841	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304545G>T	gnomAD
SERPINA6	P08185	p.Thr364Ile	rs747939841	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304545G>A	gnomAD
SERPINA6	P08185	p.Gly365Ala	rs538661274	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304542C>G	gnomAD
SERPINA6	P08185	p.Val366Phe	rs1003696988	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304540C>A	TOPMed,gnomAD
SERPINA6	P08185	p.Val366Leu	rs1003696988	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304540C>G	TOPMed,gnomAD
SERPINA6	P08185	p.Thr367Asn	rs763129780	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304536G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Asn369Ile	rs1271110992	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304530T>A	gnomAD
SERPINA6	P08185	p.Thr371Met	rs201893200	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304524G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr371Lys	rs201893200	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304524G>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr371Ala	rs765216098	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304525T>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Lys373Thr	rs771376602	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304518T>G	ExAC,gnomAD
SERPINA6	P08185	p.Lys373Glu	rs1325858103	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304519T>C	TOPMed,gnomAD
SERPINA6	P08185	p.Lys373Asn	rs528742561	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304517C>A	1000Genomes,ExAC,gnomAD
SERPINA6	P08185	p.Pro374His	rs772504845	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304515G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro374Ala	rs1392545062	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304516G>C	gnomAD
SERPINA6	P08185	p.Pro374Leu	rs772504845	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304515G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro374Arg	rs772504845	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304515G>C	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ile376Leu	rs1252111743	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304510T>G	TOPMed
SERPINA6	P08185	p.Arg378Ser	rs1166623585	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304504G>T	gnomAD
SERPINA6	P08185	p.Arg378Cys	rs1166623585	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304504G>A	gnomAD
SERPINA6	P08185	p.Arg378His	rs149012523	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304503C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Phe379Cys	rs749014347	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304500A>C	ExAC,gnomAD
SERPINA6	P08185	p.Phe379Leu	rs1193709022	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304499G>C	gnomAD
SERPINA6	P08185	p.Asn380His	rs779518994	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304498T>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro382Leu	rs1410538357	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304491G>A	TOPMed
SERPINA6	P08185	p.Pro382Thr	rs756004082	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304492G>T	ExAC,gnomAD
SERPINA6	P08185	p.Ile385Val	rs781290846	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304483T>C	ExAC,gnomAD
SERPINA6	P08185	p.Met386Ile	rs954879793	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304478C>A	TOPMed
SERPINA6	P08185	p.Met386Val	rs757320230	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304480T>C	ExAC
SERPINA6	P08185	p.Met386Thr	rs1353331345	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304479A>G	TOPMed
SERPINA6	P08185	p.Asp389Asn	RCV000018496	missense variant	Corticosteroid-binding globulin deficiency	NC_000014.9:g.94304471C>T	ClinVar
SERPINA6	P08185	p.Asp389Asn	rs28929488	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94304471C>T	UniProt,dbSNP
SERPINA6	P08185	p.Asp389Asn	VAR_016223	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94304471C>T	UniProt
SERPINA6	P08185	p.Asp389Asn	rs28929488	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304471C>T	ESP,ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Thr392Asn	rs765400237	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304461G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Trp393Arg	rs1362215393	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304459A>G	TOPMed
SERPINA6	P08185	p.Ser394Asn	rs759512800	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304455C>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ser394Arg	rs1270243704	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304454G>T	TOPMed
SERPINA6	P08185	p.Leu396Pro	rs1323470584	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304449A>G	TOPMed
SERPINA6	P08185	p.Leu398Arg	rs754112917	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304443A>C	ExAC,gnomAD
SERPINA6	P08185	p.Ala399Val	rs766474893	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304440G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Ala399Thr	rs1022163339	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304441C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Ala399Pro	rs1022163339	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304441C>G	TOPMed,gnomAD
SERPINA6	P08185	p.Ala399Glu	rs766474893	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304440G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Arg400Lys	rs1356585349	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304437C>T	TOPMed,gnomAD
SERPINA6	P08185	p.Val401Ala	rs772415332	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304434A>G	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Val401Phe	rs773510193	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304435C>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro404Leu	rs762344771	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304425G>A	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.Pro404Gln	rs762344771	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304425G>T	ExAC,TOPMed,gnomAD
SERPINA6	P08185	p.ValTer405ValUnk	rs1314151166	stop lost	-	CHR_HSCHR14_7_CTG1:g.94304422_94304423del	gnomAD
SERPINA6	P08185	p.Val405Met	rs774695483	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304423C>T	ExAC,gnomAD
SERPINA6	P08185	p.Ter406LeuUnk	rs765267898	stop lost	-	CHR_HSCHR14_7_CTG1:g.94304420dup	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ser3Gly	rs1555005966	missense variant	-	NC_000011.10:g.102843540T>C	gnomAD
MMP3	P08254	p.Leu4Arg	rs782579657	missense variant	-	NC_000011.10:g.102843536A>C	ExAC,gnomAD
MMP3	P08254	p.Ile6Thr	rs1453377591	missense variant	-	NC_000011.10:g.102843530A>G	TOPMed,gnomAD
MMP3	P08254	p.Leu8Pro	rs1414816680	missense variant	-	NC_000011.10:g.102843524A>G	TOPMed,gnomAD
MMP3	P08254	p.Leu9Trp	rs781850826	missense variant	-	NC_000011.10:g.102843521A>C	ExAC,gnomAD
MMP3	P08254	p.Leu10Pro	rs374032529	missense variant	-	NC_000011.10:g.102843518A>G	ESP,ExAC,gnomAD
MMP3	P08254	p.Cys11Trp	rs113324830	missense variant	-	NC_000011.10:g.102843514G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Cys11Ter	rs113324830	stop gained	-	NC_000011.10:g.102843514G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val12Met	rs201131528	missense variant	-	NC_000011.10:g.102843513C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala13Thr	rs1437252982	missense variant	-	NC_000011.10:g.102843510C>T	TOPMed
MMP3	P08254	p.Ala13Val	rs555385493	missense variant	-	NC_000011.10:g.102843509G>A	1000Genomes,ExAC
MMP3	P08254	p.Cys15Gly	rs782155762	missense variant	-	NC_000011.10:g.102843504A>C	ExAC,gnomAD
MMP3	P08254	p.Ala17Val	rs370303354	missense variant	-	NC_000011.10:g.102843497G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Gly22Glu	rs1440362748	missense variant	-	NC_000011.10:g.102843482C>T	TOPMed,gnomAD
MMP3	P08254	p.Ala23Gly	rs1555005946	missense variant	-	NC_000011.10:g.102843479G>C	gnomAD
MMP3	P08254	p.Ala23Thr	rs142481975	missense variant	-	NC_000011.10:g.102843480C>T	ESP,ExAC,gnomAD
MMP3	P08254	p.Ala24Glu	rs1555005944	missense variant	-	NC_000011.10:g.102843476G>T	gnomAD
MMP3	P08254	p.Arg25Ser	rs1370088939	missense variant	-	NC_000011.10:g.102843472C>A	TOPMed
MMP3	P08254	p.Asp28His	rs572386210	missense variant	-	NC_000011.10:g.102843465C>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp28Asn	rs572386210	missense variant	-	NC_000011.10:g.102843465C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp28Gly	COSM1321949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102843464T>C	NCI-TCGA Cosmic
MMP3	P08254	p.Thr29Ile	rs782405107	missense variant	-	NC_000011.10:g.102843461G>A	ExAC,gnomAD
MMP3	P08254	p.Thr29Ala	rs137912924	missense variant	-	NC_000011.10:g.102843462T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr29Ser	rs137912924	missense variant	-	NC_000011.10:g.102843462T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ser30Asn	rs1211155799	missense variant	-	NC_000011.10:g.102843458C>T	TOPMed
MMP3	P08254	p.Met31Ile	COSM3868294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102843454C>T	NCI-TCGA Cosmic
MMP3	P08254	p.Leu33Pro	rs782196428	missense variant	-	NC_000011.10:g.102843449A>G	ExAC
MMP3	P08254	p.Leu33Phe	COSM4017291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102843450G>A	NCI-TCGA Cosmic
MMP3	P08254	p.Val34Ile	rs1555005931	missense variant	-	NC_000011.10:g.102843447C>T	gnomAD
MMP3	P08254	p.Gln35His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102843442C>A	NCI-TCGA
MMP3	P08254	p.Gln35Pro	rs782569082	missense variant	-	NC_000011.10:g.102843443T>G	ExAC,gnomAD
MMP3	P08254	p.Gln35Ter	rs1555005930	stop gained	-	NC_000011.10:g.102843444G>A	gnomAD
MMP3	P08254	p.Lys36Glu	rs782254329	missense variant	-	NC_000011.10:g.102842916T>C	ExAC,gnomAD
MMP3	P08254	p.Tyr37His	rs576127996	missense variant	-	NC_000011.10:g.102842913A>G	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Tyr37Cys	rs1555005838	missense variant	-	NC_000011.10:g.102842912T>C	gnomAD
MMP3	P08254	p.Leu38Pro	rs1555005837	missense variant	-	NC_000011.10:g.102842909A>G	gnomAD
MMP3	P08254	p.Glu39Asp	rs782190144	missense variant	-	NC_000011.10:g.102842905T>G	ExAC,gnomAD
MMP3	P08254	p.Tyr42His	rs782553958	missense variant	-	NC_000011.10:g.102842898A>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr42Ter	rs138533783	stop gained	-	NC_000011.10:g.102842896G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp43Asn	rs782778748	missense variant	-	NC_000011.10:g.102842895C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Lys45Glu	RCV000454524	missense variant	-	NC_000011.10:g.102842889T>C	ClinVar
MMP3	P08254	p.Lys45Arg	rs782730515	missense variant	-	NC_000011.10:g.102842888T>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Lys45Glu	rs679620	missense variant	-	NC_000011.10:g.102842889T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp47Tyr	rs1388178949	missense variant	-	NC_000011.10:g.102842883C>A	TOPMed
MMP3	P08254	p.Gln50Pro	rs370164016	missense variant	-	NC_000011.10:g.102842873T>G	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Gln50Lys	rs372498396	missense variant	-	NC_000011.10:g.102842874G>T	ESP,TOPMed,gnomAD
MMP3	P08254	p.Phe51Cys	rs778863363	missense variant	-	NC_000011.10:g.102842870A>C	ExAC,gnomAD
MMP3	P08254	p.Arg53Lys	rs148285569	missense variant	-	NC_000011.10:g.102842864C>T	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg54Lys	rs782425284	missense variant	-	NC_000011.10:g.102842861C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp56Glu	rs1555005822	missense variant	-	NC_000011.10:g.102842854G>C	gnomAD
MMP3	P08254	p.Asp56Asn	rs1555005824	missense variant	-	NC_000011.10:g.102842856C>T	gnomAD
MMP3	P08254	p.Gly58Ser	rs782654888	missense variant	-	NC_000011.10:g.102842850C>T	gnomAD
MMP3	P08254	p.Pro59Leu	rs1487605173	missense variant	-	NC_000011.10:g.102842846G>A	TOPMed,gnomAD
MMP3	P08254	p.Val60Ala	rs1555005817	missense variant	-	NC_000011.10:g.102842843A>G	gnomAD
MMP3	P08254	p.Val61Phe	rs554448579	missense variant	-	NC_000011.10:g.102842841C>A	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Val61Asp	rs1555005816	missense variant	-	NC_000011.10:g.102842840A>T	gnomAD
MMP3	P08254	p.Ile64Val	rs781930148	missense variant	-	NC_000011.10:g.102842832T>C	ExAC,gnomAD
MMP3	P08254	p.Ile64SerPheSerTerUnkUnk	COSM1237692	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.102842832T>-	NCI-TCGA Cosmic
MMP3	P08254	p.Arg65Ter	rs143174783	stop gained	-	NC_000011.10:g.102842829G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg65Leu	rs202121594	missense variant	-	NC_000011.10:g.102842828C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg65Gln	rs202121594	missense variant	-	NC_000011.10:g.102842828C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Gln68His	rs1473230952	missense variant	-	NC_000011.10:g.102842818C>A	TOPMed
MMP3	P08254	p.Lys69Thr	rs782511984	missense variant	-	NC_000011.10:g.102842816T>G	ExAC,gnomAD
MMP3	P08254	p.Lys69Met	rs782511984	missense variant	-	NC_000011.10:g.102842816T>A	ExAC,gnomAD
MMP3	P08254	p.Glu74Asp	rs1555005800	missense variant	-	NC_000011.10:g.102842800C>G	gnomAD
MMP3	P08254	p.Glu74Ala	rs201018157	missense variant	-	NC_000011.10:g.102842801T>G	1000Genomes
MMP3	P08254	p.Thr76Lys	rs554987933	missense variant	-	NC_000011.10:g.102842795G>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr76Met	rs554987933	missense variant	-	NC_000011.10:g.102842795G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Gly77Val	rs568922671	missense variant	-	NC_000011.10:g.102842792C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ser81Ala	rs782614229	missense variant	-	NC_000011.10:g.102842781A>C	ExAC,gnomAD
MMP3	P08254	p.Asp82Asn	rs552104362	missense variant	-	NC_000011.10:g.102842778C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr83Ala	rs1351010097	missense variant	-	NC_000011.10:g.102842775T>C	TOPMed,gnomAD
MMP3	P08254	p.Leu84Pro	rs782173998	missense variant	-	NC_000011.10:g.102842771A>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Leu84Val	rs1312012736	missense variant	-	NC_000011.10:g.102842772G>C	TOPMed,gnomAD
MMP3	P08254	p.Val86Leu	rs1555005785	missense variant	-	NC_000011.10:g.102842766C>A	gnomAD
MMP3	P08254	p.Val86Met	rs1555005785	missense variant	-	NC_000011.10:g.102842766C>T	gnomAD
MMP3	P08254	p.Met87Thr	rs1555005783	missense variant	-	NC_000011.10:g.102842762A>G	gnomAD
MMP3	P08254	p.Arg88His	rs782531877	missense variant	-	NC_000011.10:g.102842759C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg88Cys	rs377547395	missense variant	-	NC_000011.10:g.102842760G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg88Leu	rs782531877	missense variant	-	NC_000011.10:g.102842759C>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg88Ser	rs377547395	missense variant	-	NC_000011.10:g.102842760G>T	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Lys89Arg	rs1482872804	missense variant	-	NC_000011.10:g.102842756T>C	TOPMed
MMP3	P08254	p.Pro90Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842753G>A	NCI-TCGA
MMP3	P08254	p.Pro90Ser	COSM6066994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102842754G>A	NCI-TCGA Cosmic
MMP3	P08254	p.Arg91GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.102842752G>-	NCI-TCGA
MMP3	P08254	p.Arg91Ser	rs922877596	missense variant	-	NC_000011.10:g.102842749C>A	TOPMed,gnomAD
MMP3	P08254	p.Arg91Trp	rs141650167	missense variant	-	NC_000011.10:g.102842751T>A	ESP,TOPMed
MMP3	P08254	p.Cys92Tyr	rs1555005777	missense variant	-	NC_000011.10:g.102842747C>T	gnomAD
MMP3	P08254	p.Cys92Arg	COSM1350415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102842748A>G	NCI-TCGA Cosmic
MMP3	P08254	p.Pro95Thr	rs782127556	missense variant	-	NC_000011.10:g.102842739G>T	ExAC,gnomAD
MMP3	P08254	p.Pro95Ser	rs782127556	missense variant	-	NC_000011.10:g.102842739G>A	ExAC,gnomAD
MMP3	P08254	p.Asp96Glu	rs602128	missense variant	-	NC_000011.10:g.102842734A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val97Phe	rs547601378	missense variant	-	NC_000011.10:g.102842733C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val97Ala	rs782571621	missense variant	-	NC_000011.10:g.102842732A>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val97Ile	rs547601378	missense variant	-	NC_000011.10:g.102842733C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Phe100Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842724A>G	NCI-TCGA
MMP3	P08254	p.Phe100Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842724A>C	NCI-TCGA
MMP3	P08254	p.Thr102Ala	rs1555005770	missense variant	-	NC_000011.10:g.102842718T>C	gnomAD
MMP3	P08254	p.Phe103Cys	rs989461395	missense variant	-	NC_000011.10:g.102842714A>C	TOPMed,gnomAD
MMP3	P08254	p.Phe103Leu	rs1555005764	missense variant	-	NC_000011.10:g.102842715A>G	gnomAD
MMP3	P08254	p.Pro104Leu	rs782503307	missense variant	-	NC_000011.10:g.102842711G>A	ExAC,gnomAD
MMP3	P08254	p.Gly105Arg	rs781910577	missense variant	-	NC_000011.10:g.102842709C>G	ExAC,gnomAD
MMP3	P08254	p.Gly105Asp	rs1555005757	missense variant	-	NC_000011.10:g.102842708C>T	gnomAD
MMP3	P08254	p.Ile106Met	rs1300996167	missense variant	-	NC_000011.10:g.102842704G>C	TOPMed
MMP3	P08254	p.Pro107Leu	rs151123532	missense variant	-	NC_000011.10:g.102842702G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Trp109Arg	rs61753776	missense variant	-	NC_000011.10:g.102842697A>T	TOPMed,gnomAD
MMP3	P08254	p.Trp109Gly	rs61753776	missense variant	-	NC_000011.10:g.102842697A>C	TOPMed,gnomAD
MMP3	P08254	p.Trp109Ter	COSM3442735	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.102842696C>T	NCI-TCGA Cosmic
MMP3	P08254	p.Thr112Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842688T>C	NCI-TCGA
MMP3	P08254	p.His113Tyr	rs1555005747	missense variant	-	NC_000011.10:g.102842685G>A	gnomAD
MMP3	P08254	p.Leu114Arg	rs561892904	missense variant	-	NC_000011.10:g.102842681A>C	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Leu114Phe	rs1341658484	missense variant	-	NC_000011.10:g.102842682G>A	TOPMed
MMP3	P08254	p.Leu114Pro	rs561892904	missense variant	-	NC_000011.10:g.102842681A>G	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Tyr116Ter	rs782775445	stop gained	-	NC_000011.10:g.102842674G>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr116Ter	rs782775445	stop gained	-	NC_000011.10:g.102842674G>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr116Cys	rs142984123	missense variant	-	NC_000011.10:g.102842675T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg117Lys	rs782160486	missense variant	-	NC_000011.10:g.102842672C>T	ExAC,gnomAD
MMP3	P08254	p.Ile118Thr	rs577046877	missense variant	-	NC_000011.10:g.102842577A>G	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Val119Leu	rs782782597	missense variant	-	NC_000011.10:g.102842575C>A	ExAC,gnomAD
MMP3	P08254	p.Asn120Thr	rs1555005716	missense variant	-	NC_000011.10:g.102842571T>G	gnomAD
MMP3	P08254	p.Tyr121Cys	rs1360800439	missense variant	-	NC_000011.10:g.102842568T>C	TOPMed
MMP3	P08254	p.Pro123Thr	rs1364558361	missense variant	-	NC_000011.10:g.102842563G>T	TOPMed,gnomAD
MMP3	P08254	p.Pro123Ser	rs1364558361	missense variant	-	NC_000011.10:g.102842563G>A	TOPMed,gnomAD
MMP3	P08254	p.Leu125Phe	rs1433100016	missense variant	-	NC_000011.10:g.102842555C>G	TOPMed
MMP3	P08254	p.Pro126Thr	rs782730037	missense variant	-	NC_000011.10:g.102842554G>T	ExAC,gnomAD
MMP3	P08254	p.Lys127Asn	rs1555005709	missense variant	-	NC_000011.10:g.102842549T>G	gnomAD
MMP3	P08254	p.Lys127Glu	rs782138485	missense variant	-	NC_000011.10:g.102842551T>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp128Gly	rs781991534	missense variant	-	NC_000011.10:g.102842547T>C	ExAC
MMP3	P08254	p.Asp128Asn	COSM3442733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102842548C>T	NCI-TCGA Cosmic
MMP3	P08254	p.Ala129Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842545C>T	NCI-TCGA
MMP3	P08254	p.Ala129Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842544G>A	NCI-TCGA
MMP3	P08254	p.Asp131Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842538T>C	NCI-TCGA
MMP3	P08254	p.Ala133Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842532G>A	NCI-TCGA
MMP3	P08254	p.Val134Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842529A>T	NCI-TCGA
MMP3	P08254	p.Val134Leu	rs782312096	missense variant	-	NC_000011.10:g.102842530C>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val134Ile	rs782312096	missense variant	-	NC_000011.10:g.102842530C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala137Val	rs781941674	missense variant	-	NC_000011.10:g.102842520G>A	ExAC,gnomAD
MMP3	P08254	p.Ala137Pro	rs782220811	missense variant	-	NC_000011.10:g.102842521C>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala137Thr	rs782220811	missense variant	-	NC_000011.10:g.102842521C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Lys139Glu	COSM922297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102842515T>C	NCI-TCGA Cosmic
MMP3	P08254	p.Val140Gly	COSM922296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102842511A>C	NCI-TCGA Cosmic
MMP3	P08254	p.Trp141Ter	rs1314407176	stop gained	-	NC_000011.10:g.102842507C>T	TOPMed
MMP3	P08254	p.Glu142Val	rs782241431	missense variant	-	NC_000011.10:g.102842505T>A	ExAC,gnomAD
MMP3	P08254	p.Glu142Lys	rs782386185	missense variant	-	NC_000011.10:g.102842506C>T	ExAC,gnomAD
MMP3	P08254	p.Glu143Ala	rs1266873022	missense variant	-	NC_000011.10:g.102842502T>G	TOPMed,gnomAD
MMP3	P08254	p.Glu143Lys	rs1555005695	missense variant	-	NC_000011.10:g.102842503C>T	gnomAD
MMP3	P08254	p.Val144Ala	rs782542331	missense variant	-	NC_000011.10:g.102842499A>G	ExAC,gnomAD
MMP3	P08254	p.Val144Met	rs373783506	missense variant	-	NC_000011.10:g.102842500C>T	ESP,ExAC,gnomAD
MMP3	P08254	p.Leu147Pro	rs1555005691	missense variant	-	NC_000011.10:g.102842490A>G	gnomAD
MMP3	P08254	p.Phe149Leu	rs1555005688	missense variant	-	NC_000011.10:g.102842483G>T	gnomAD
MMP3	P08254	p.Arg151Ser	rs782465369	missense variant	-	NC_000011.10:g.102842477C>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr153Phe	rs782555708	missense variant	-	NC_000011.10:g.102842472T>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr153His	rs148579119	missense variant	-	NC_000011.10:g.102842473A>G	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr153Cys	rs782555708	missense variant	-	NC_000011.10:g.102842472T>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Glu154Lys	rs1555005682	missense variant	-	NC_000011.10:g.102842470C>T	gnomAD
MMP3	P08254	p.Gly155Glu	rs781892488	missense variant	-	NC_000011.10:g.102842466C>T	ExAC,gnomAD
MMP3	P08254	p.Glu156Lys	rs1555005679	missense variant	-	NC_000011.10:g.102842464C>T	gnomAD
MMP3	P08254	p.Glu156Gly	rs1555005678	missense variant	-	NC_000011.10:g.102842463T>C	gnomAD
MMP3	P08254	p.Ile159Thr	rs145941285	missense variant	-	NC_000011.10:g.102842454A>G	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ile159Val	rs1555005676	missense variant	-	NC_000011.10:g.102842455T>C	gnomAD
MMP3	P08254	p.Met160Thr	rs781978075	missense variant	-	NC_000011.10:g.102842451A>G	ExAC,gnomAD
MMP3	P08254	p.Met160Val	rs113453592	missense variant	-	NC_000011.10:g.102842452T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Met160Leu	rs113453592	missense variant	-	NC_000011.10:g.102842452T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Met160Ile	rs139243180	missense variant	-	NC_000011.10:g.102842450C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ile161Thr	rs1555005669	missense variant	-	NC_000011.10:g.102842448A>G	gnomAD
MMP3	P08254	p.Ser162Pro	rs1555005667	missense variant	-	NC_000011.10:g.102842446A>G	gnomAD
MMP3	P08254	p.Ala164Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842439G>A	NCI-TCGA
MMP3	P08254	p.Ala164Glu	rs1555005664	missense variant	-	NC_000011.10:g.102842439G>T	gnomAD
MMP3	P08254	p.Val165Ala	rs146212400	missense variant	-	NC_000011.10:g.102842436A>G	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val165Ile	rs1345987969	missense variant	-	NC_000011.10:g.102842437C>T	TOPMed
MMP3	P08254	p.Arg166Lys	rs1555005660	missense variant	-	NC_000011.10:g.102842433C>T	gnomAD
MMP3	P08254	p.Arg166Ile	rs1555005660	missense variant	-	NC_000011.10:g.102842433C>A	gnomAD
MMP3	P08254	p.Glu167Lys	rs781934300	missense variant	-	NC_000011.10:g.102842431C>T	ExAC
MMP3	P08254	p.Asp170Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842270T>G	NCI-TCGA
MMP3	P08254	p.Phe171Leu	rs782223398	missense variant	-	NC_000011.10:g.102842268A>G	ExAC,gnomAD
MMP3	P08254	p.Tyr172Ter	rs368913824	stop gained	-	NC_000011.10:g.102842263G>T	ESP,ExAC,gnomAD
MMP3	P08254	p.Tyr172His	rs1555005577	missense variant	-	NC_000011.10:g.102842265A>G	gnomAD
MMP3	P08254	p.Tyr172Ter	rs368913824	stop gained	-	NC_000011.10:g.102842263G>C	ESP,ExAC,gnomAD
MMP3	P08254	p.Pro173Leu	rs781897818	missense variant	-	NC_000011.10:g.102842261G>A	ExAC,gnomAD
MMP3	P08254	p.Pro173Thr	rs1555005576	missense variant	-	NC_000011.10:g.102842262G>T	gnomAD
MMP3	P08254	p.Pro173Arg	rs781897818	missense variant	-	NC_000011.10:g.102842261G>C	ExAC,gnomAD
MMP3	P08254	p.Pro173Ala	rs1555005576	missense variant	-	NC_000011.10:g.102842262G>C	gnomAD
MMP3	P08254	p.Phe174Ser	rs782669256	missense variant	-	NC_000011.10:g.102842258A>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Phe174Leu	rs1555005573	missense variant	-	NC_000011.10:g.102842259A>G	gnomAD
MMP3	P08254	p.Gly178Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842246C>A	NCI-TCGA
MMP3	P08254	p.Gly178Arg	rs782745338	missense variant	-	NC_000011.10:g.102842247C>T	ExAC,gnomAD
MMP3	P08254	p.Leu181Ter	rs782500546	stop gained	-	NC_000011.10:g.102842237A>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala182Asp	rs1283847664	missense variant	-	NC_000011.10:g.102842234G>T	TOPMed
MMP3	P08254	p.His183Arg	rs1227842713	missense variant	-	NC_000011.10:g.102842231T>C	TOPMed,gnomAD
MMP3	P08254	p.Ala184Asp	rs782147410	missense variant	-	NC_000011.10:g.102842228G>T	ExAC,gnomAD
MMP3	P08254	p.Ala184Ser	rs782806413	missense variant	-	NC_000011.10:g.102842229C>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala186Asp	rs376760953	missense variant	-	NC_000011.10:g.102842222G>T	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala186Val	rs376760953	missense variant	-	NC_000011.10:g.102842222G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro187Ser	rs140794544	missense variant	-	NC_000011.10:g.102842220G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro187Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842219G>A	NCI-TCGA
MMP3	P08254	p.Gly188Glu	rs1555005557	missense variant	-	NC_000011.10:g.102842216C>T	gnomAD
MMP3	P08254	p.Gly188Arg	rs782108213	missense variant	-	NC_000011.10:g.102842217C>T	ExAC,gnomAD
MMP3	P08254	p.Gly188Val	COSM3808191	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102842216C>A	NCI-TCGA Cosmic
MMP3	P08254	p.Pro189Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102842214G>A	NCI-TCGA
MMP3	P08254	p.Pro189Leu	rs1555005554	missense variant	-	NC_000011.10:g.102842213G>A	gnomAD
MMP3	P08254	p.Gly190Glu	rs782385032	missense variant	-	NC_000011.10:g.102842210C>T	ExAC,gnomAD
MMP3	P08254	p.Gly190Val	COSM1492416	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102842210C>A	NCI-TCGA Cosmic
MMP3	P08254	p.Asn192Asp	rs1450225675	missense variant	-	NC_000011.10:g.102842205T>C	TOPMed,gnomAD
MMP3	P08254	p.Asn192Tyr	rs1450225675	missense variant	-	NC_000011.10:g.102842205T>A	TOPMed,gnomAD
MMP3	P08254	p.Ala195Asp	rs782028810	missense variant	-	NC_000011.10:g.102842195G>T	ExAC,gnomAD
MMP3	P08254	p.Ala195Ser	rs782241657	missense variant	-	NC_000011.10:g.102842196C>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp198Glu	rs782190532	missense variant	-	NC_000011.10:g.102842185A>T	ExAC,gnomAD
MMP3	P08254	p.Asp199Val	rs782557530	missense variant	-	NC_000011.10:g.102842183T>A	ExAC,gnomAD
MMP3	P08254	p.Asp200Glu	rs1156265503	missense variant	-	NC_000011.10:g.102842179A>C	TOPMed
MMP3	P08254	p.Glu201Gln	rs782487068	missense variant	-	NC_000011.10:g.102842178C>G	ExAC,gnomAD
MMP3	P08254	p.Glu201Lys	rs782487068	missense variant	-	NC_000011.10:g.102842178C>T	ExAC,gnomAD
MMP3	P08254	p.Gln202Lys	COSM428294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102842175G>T	NCI-TCGA Cosmic
MMP3	P08254	p.Lys205Asn	rs1453941959	missense variant	-	NC_000011.10:g.102842164C>A	TOPMed,gnomAD
MMP3	P08254	p.Gly209Ala	rs1309603660	missense variant	-	NC_000011.10:g.102840593C>G	TOPMed,gnomAD
MMP3	P08254	p.Gly209Glu	rs1309603660	missense variant	-	NC_000011.10:g.102840593C>T	TOPMed,gnomAD
MMP3	P08254	p.Thr210Ser	rs1358457873	missense variant	-	NC_000011.10:g.102840591T>A	TOPMed,gnomAD
MMP3	P08254	p.Thr210Pro	rs1358457873	missense variant	-	NC_000011.10:g.102840591T>G	TOPMed,gnomAD
MMP3	P08254	p.Phe213Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102840580A>C	NCI-TCGA
MMP3	P08254	p.Leu214Ile	rs1220025147	missense variant	-	NC_000011.10:g.102840579G>T	TOPMed,gnomAD
MMP3	P08254	p.Val215Ile	rs782754459	missense variant	-	NC_000011.10:g.102840576C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val215Leu	rs782754459	missense variant	-	NC_000011.10:g.102840576C>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala217Thr	rs782547430	missense variant	-	NC_000011.10:g.102840570C>T	ExAC,gnomAD
MMP3	P08254	p.His218Gln	rs557512280	missense variant	-	NC_000011.10:g.102840565A>C	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.His218Tyr	COSM3868290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102840567G>A	NCI-TCGA Cosmic
MMP3	P08254	p.Glu219Asp	rs782711373	missense variant	-	NC_000011.10:g.102840562T>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ile220Thr	rs150552863	missense variant	-	NC_000011.10:g.102840560A>G	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Gly221Ala	rs782720970	missense variant	-	NC_000011.10:g.102840557C>G	ExAC,gnomAD
MMP3	P08254	p.His222Arg	rs1555005290	missense variant	-	NC_000011.10:g.102840554T>C	gnomAD
MMP3	P08254	p.Gly225Cys	COSM4017288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102840546C>A	NCI-TCGA Cosmic
MMP3	P08254	p.Ala230Pro	rs1393459835	missense variant	-	NC_000011.10:g.102840531C>G	TOPMed
MMP3	P08254	p.Leu235Phe	rs782071125	missense variant	-	NC_000011.10:g.102840514C>G	ExAC,TOPMed
MMP3	P08254	p.Met236Val	rs781926097	missense variant	-	NC_000011.10:g.102840513T>C	ExAC,gnomAD
MMP3	P08254	p.Met236Arg	rs782364467	missense variant	-	NC_000011.10:g.102840512A>C	ExAC,gnomAD
MMP3	P08254	p.Tyr237Ter	rs782213288	stop gained	-	NC_000011.10:g.102840508G>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro238Ser	rs782665147	missense variant	-	NC_000011.10:g.102840507G>A	ExAC,gnomAD
MMP3	P08254	p.Leu239Pro	rs537509437	missense variant	-	NC_000011.10:g.102840503A>G	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Tyr240Phe	rs1555005283	missense variant	-	NC_000011.10:g.102840500T>A	gnomAD
MMP3	P08254	p.His241Tyr	rs1352244221	missense variant	-	NC_000011.10:g.102840498G>A	TOPMed
MMP3	P08254	p.Leu243Phe	rs1443827949	missense variant	-	NC_000011.10:g.102840492G>A	TOPMed
MMP3	P08254	p.Thr244Ile	rs1381652352	missense variant	-	NC_000011.10:g.102840488G>A	TOPMed
MMP3	P08254	p.Thr244Ala	rs767046399	missense variant	-	NC_000011.10:g.102840489T>C	ExAC,gnomAD
MMP3	P08254	p.Asp245Ala	rs782553242	missense variant	-	NC_000011.10:g.102840485T>G	TOPMed,gnomAD
MMP3	P08254	p.Arg248Leu	rs781869389	missense variant	-	NC_000011.10:g.102840476C>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg248Gly	rs41357345	missense variant	-	NC_000011.10:g.102840477G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg248Gln	rs781869389	missense variant	-	NC_000011.10:g.102840476C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg248Trp	rs41357345	missense variant	-	NC_000011.10:g.102840477G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg250Cys	rs782146175	missense variant	-	NC_000011.10:g.102840471G>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg250Leu	rs148047905	missense variant	-	NC_000011.10:g.102840470C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg250His	rs148047905	missense variant	-	NC_000011.10:g.102840470C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Leu251Gln	rs1200652061	missense variant	-	NC_000011.10:g.102840467A>T	TOPMed
MMP3	P08254	p.Gln253Arg	rs782392767	missense variant	-	NC_000011.10:g.102840461T>C	ExAC,gnomAD
MMP3	P08254	p.Asp254Asn	rs782121319	missense variant	-	NC_000011.10:g.102840459C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp254His	rs782121319	missense variant	-	NC_000011.10:g.102840459C>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp254Val	rs1182056926	missense variant	-	NC_000011.10:g.102840458T>A	TOPMed
MMP3	P08254	p.Asp255Asn	COSM5929298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102840456C>T	NCI-TCGA Cosmic
MMP3	P08254	p.Ile256Val	rs1555005272	missense variant	-	NC_000011.10:g.102840453T>C	gnomAD
MMP3	P08254	p.Ser261Phe	rs1555005269	missense variant	-	NC_000011.10:g.102840437G>A	gnomAD
MMP3	P08254	p.Tyr263His	rs1555005267	missense variant	-	NC_000011.10:g.102840432A>G	gnomAD
MMP3	P08254	p.Tyr263Cys	rs782403880	missense variant	-	NC_000011.10:g.102840431T>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Gly264Glu	COSM3442730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102840252C>T	NCI-TCGA Cosmic
MMP3	P08254	p.Pro265Ser	rs781846046	missense variant	-	NC_000011.10:g.102840250G>A	ExAC,gnomAD
MMP3	P08254	p.Pro267Leu	rs782735258	missense variant	-	NC_000011.10:g.102840243G>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp268Val	rs782139929	missense variant	-	NC_000011.10:g.102840240T>A	ExAC,gnomAD
MMP3	P08254	p.Ser269Thr	rs781866260	missense variant	-	NC_000011.10:g.102840238A>T	ExAC,gnomAD
MMP3	P08254	p.Ser269Phe	rs782821084	missense variant	-	NC_000011.10:g.102840237G>A	ExAC,gnomAD
MMP3	P08254	p.Pro270Arg	rs139187731	missense variant	-	NC_000011.10:g.102840234G>C	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro270Thr	rs782136205	missense variant	-	NC_000011.10:g.102840235G>T	ExAC,gnomAD
MMP3	P08254	p.Pro270Leu	rs139187731	missense variant	-	NC_000011.10:g.102840234G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr272Ile	rs200250895	missense variant	-	NC_000011.10:g.102840228G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr272Ser	rs557944630	missense variant	-	NC_000011.10:g.102840229T>A	TOPMed
MMP3	P08254	p.Thr272Asn	rs200250895	missense variant	-	NC_000011.10:g.102840228G>T	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro273Thr	rs781952098	missense variant	-	NC_000011.10:g.102840226G>T	ExAC,gnomAD
MMP3	P08254	p.Pro273Ala	rs781952098	missense variant	-	NC_000011.10:g.102840226G>C	ExAC,gnomAD
MMP3	P08254	p.Leu274ProPheSerTerUnkUnk	rs782340869	frameshift	-	NC_000011.10:g.102840222_102840223insG	NCI-TCGA,NCI-TCGA Cosmic
MMP3	P08254	p.Val275Leu	rs1489524712	missense variant	-	NC_000011.10:g.102840220C>A	TOPMed
MMP3	P08254	p.Val275Ala	rs1195022030	missense variant	-	NC_000011.10:g.102840219A>G	TOPMed,gnomAD
MMP3	P08254	p.Pro276Ser	rs146504505	missense variant	-	NC_000011.10:g.102840217G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro276His	rs782326787	missense variant	-	NC_000011.10:g.102840216G>T	ExAC,gnomAD
MMP3	P08254	p.Thr277Ser	rs782178458	missense variant	-	NC_000011.10:g.102840214T>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr277Met	rs565138607	missense variant	-	NC_000011.10:g.102840213G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr277Ala	rs782178458	missense variant	-	NC_000011.10:g.102840214T>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Glu278Gly	rs1555005221	missense variant	-	NC_000011.10:g.102840210T>C	gnomAD
MMP3	P08254	p.Pro279Ser	rs782642874	missense variant	-	NC_000011.10:g.102840208G>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro279Thr	rs782642874	missense variant	-	NC_000011.10:g.102840208G>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro279Leu	COSM3442727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102840207G>A	NCI-TCGA Cosmic
MMP3	P08254	p.Val280Ala	rs782558947	missense variant	-	NC_000011.10:g.102840204A>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val280Ile	rs1555005218	missense variant	-	NC_000011.10:g.102840205C>T	gnomAD
MMP3	P08254	p.Pro281Ser	rs1156528651	missense variant	-	NC_000011.10:g.102840202G>A	TOPMed,gnomAD
MMP3	P08254	p.Glu283Gly	rs782700324	missense variant	-	NC_000011.10:g.102840195T>C	ExAC,gnomAD
MMP3	P08254	p.Glu283Ala	rs782700324	missense variant	-	NC_000011.10:g.102840195T>G	ExAC,gnomAD
MMP3	P08254	p.Pro284Arg	rs1420146151	missense variant	-	NC_000011.10:g.102840192G>C	TOPMed
MMP3	P08254	p.Pro284Thr	rs369959225	missense variant	-	NC_000011.10:g.102840193G>T	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr286Met	rs149156238	missense variant	-	NC_000011.10:g.102840186G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala288Asp	rs1555005209	missense variant	-	NC_000011.10:g.102840180G>T	gnomAD
MMP3	P08254	p.Ala288Thr	rs1238621767	missense variant	-	NC_000011.10:g.102840181C>T	TOPMed
MMP3	P08254	p.Asn289Ser	rs782130715	missense variant	-	NC_000011.10:g.102840177T>C	ExAC,gnomAD
MMP3	P08254	p.Cys290Trp	rs781987329	missense variant	-	NC_000011.10:g.102840173A>C	ExAC,gnomAD
MMP3	P08254	p.Pro292Ala	rs782812551	missense variant	-	NC_000011.10:g.102840169G>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala293Thr	rs1356291876	missense variant	-	NC_000011.10:g.102840166C>T	TOPMed
MMP3	P08254	p.Leu294Trp	rs375381761	missense variant	-	NC_000011.10:g.102840162A>C	ESP,TOPMed,gnomAD
MMP3	P08254	p.Leu294Phe	rs782356418	missense variant	-	NC_000011.10:g.102840161C>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp297Val	rs1555005201	missense variant	-	NC_000011.10:g.102840153T>A	gnomAD
MMP3	P08254	p.Ala298Val	rs1555005198	missense variant	-	NC_000011.10:g.102840150G>A	gnomAD
MMP3	P08254	p.Ser300Thr	rs782380049	missense variant	-	NC_000011.10:g.102840144C>G	ExAC,gnomAD
MMP3	P08254	p.Thr301Ile	rs782302199	missense variant	-	NC_000011.10:g.102840141G>A	ExAC,gnomAD
MMP3	P08254	p.Arg303Lys	rs916359137	missense variant	-	NC_000011.10:g.102840135C>T	TOPMed,gnomAD
MMP3	P08254	p.Gly304Ter	rs528818883	stop gained	-	NC_000011.10:g.102840133C>A	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Gly304Val	rs782446614	missense variant	-	NC_000011.10:g.102840132C>A	ExAC,gnomAD
MMP3	P08254	p.Glu305Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102840130C>T	NCI-TCGA
MMP3	P08254	p.Ile308Thr	rs992330140	missense variant	-	NC_000011.10:g.102840120A>G	gnomAD
MMP3	P08254	p.Phe309Ser	rs782621390	missense variant	-	NC_000011.10:g.102840117A>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Phe309Tyr	rs782621390	missense variant	-	NC_000011.10:g.102840117A>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp311Gly	rs1555005193	missense variant	-	NC_000011.10:g.102840111T>C	gnomAD
MMP3	P08254	p.Arg312Ser	rs140614141	missense variant	-	NC_000011.10:g.102839243C>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg316Cys	rs147533686	missense variant	-	NC_000011.10:g.102839233G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg316Ser	rs147533686	missense variant	-	NC_000011.10:g.102839233G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg316His	rs782643785	missense variant	-	NC_000011.10:g.102839232C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg316Leu	rs782643785	missense variant	-	NC_000011.10:g.102839232C>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Lys317Arg	rs782382218	missense variant	-	NC_000011.10:g.102839229T>C	ExAC,gnomAD
MMP3	P08254	p.Ser318Tyr	COSM922294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102839226G>T	NCI-TCGA Cosmic
MMP3	P08254	p.Leu319Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102839224G>T	NCI-TCGA
MMP3	P08254	p.Leu319Pro	rs782666264	missense variant	-	NC_000011.10:g.102839223A>G	ExAC,gnomAD
MMP3	P08254	p.Leu319His	rs782666264	missense variant	-	NC_000011.10:g.102839223A>T	ExAC,gnomAD
MMP3	P08254	p.Lys321Arg	rs367715190	missense variant	-	NC_000011.10:g.102839217T>C	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Lys321Asn	rs146875246	missense variant	-	NC_000011.10:g.102839216C>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Leu322Phe	rs782598544	missense variant	-	NC_000011.10:g.102839215G>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Leu322Val	rs782598544	missense variant	-	NC_000011.10:g.102839215G>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro324Thr	rs781850506	missense variant	-	NC_000011.10:g.102839209G>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro324Ser	rs781850506	missense variant	-	NC_000011.10:g.102839209G>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Glu325Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102839206C>G	NCI-TCGA
MMP3	P08254	p.His327Arg	rs368598390	missense variant	-	NC_000011.10:g.102839199T>C	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Leu328Ser	rs1382056600	missense variant	-	NC_000011.10:g.102839196A>G	TOPMed
MMP3	P08254	p.Leu328Phe	COSM1350411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102839195C>A	NCI-TCGA Cosmic
MMP3	P08254	p.Ile329Phe	rs782137329	missense variant	-	NC_000011.10:g.102839194T>A	ExAC,gnomAD
MMP3	P08254	p.Ile329Ser	rs1420258170	missense variant	-	NC_000011.10:g.102839193A>C	TOPMed,gnomAD
MMP3	P08254	p.Ser330Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102839190G>A	NCI-TCGA
MMP3	P08254	p.Ser330Thr	rs1555005058	missense variant	-	NC_000011.10:g.102839191A>T	gnomAD
MMP3	P08254	p.Trp333Arg	rs527842934	missense variant	-	NC_000011.10:g.102839182A>G	ExAC,TOPMed
MMP3	P08254	p.Pro334Thr	rs782108389	missense variant	-	NC_000011.10:g.102839179G>T	ExAC,gnomAD
MMP3	P08254	p.Pro334Ser	COSM1127950	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102839179G>A	NCI-TCGA Cosmic
MMP3	P08254	p.Ser335Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102839175G>T	NCI-TCGA
MMP3	P08254	p.Ser335Pro	rs139072785	missense variant	-	NC_000011.10:g.102839176A>G	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro337Ser	rs782395032	missense variant	-	NC_000011.10:g.102839170G>A	ExAC,gnomAD
MMP3	P08254	p.Ser338Leu	rs200470692	missense variant	-	NC_000011.10:g.102839166G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val340Met	rs376007624	missense variant	-	NC_000011.10:g.102839161C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val340Leu	COSM6066995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102839161C>A	NCI-TCGA Cosmic
MMP3	P08254	p.Asp341Val	rs782616828	missense variant	-	NC_000011.10:g.102839157T>A	ExAC,gnomAD
MMP3	P08254	p.Ala342Asp	rs912160925	missense variant	-	NC_000011.10:g.102839154G>T	TOPMed
MMP3	P08254	p.Ala343Thr	rs782261578	missense variant	-	NC_000011.10:g.102839152C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr344His	rs782558227	missense variant	-	NC_000011.10:g.102839149A>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr344Asn	rs782558227	missense variant	-	NC_000011.10:g.102839149A>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr344Cys	rs201409153	missense variant	-	NC_000011.10:g.102839148T>C	1000Genomes,TOPMed
MMP3	P08254	p.Glu345Lys	COSM3868289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102839146C>T	NCI-TCGA Cosmic
MMP3	P08254	p.Val346Phe	rs782267524	missense variant	-	NC_000011.10:g.102839143C>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr347Ile	rs1555005040	missense variant	-	NC_000011.10:g.102839139G>A	gnomAD
MMP3	P08254	p.Ser348Arg	rs552851744	missense variant	-	NC_000011.10:g.102839135G>T	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Lys349Asn	rs782438889	missense variant	-	NC_000011.10:g.102839132C>A	ExAC,gnomAD
MMP3	P08254	p.Asp350Glu	rs1555005037	missense variant	-	NC_000011.10:g.102839129G>T	gnomAD
MMP3	P08254	p.Asp350Asn	COSM4401233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102839131C>T	NCI-TCGA Cosmic
MMP3	P08254	p.Val352Phe	rs536550929	missense variant	-	NC_000011.10:g.102839125C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val352Ile	rs536550929	missense variant	-	NC_000011.10:g.102839125C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Phe355Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102839115A>G	NCI-TCGA
MMP3	P08254	p.Phe355Cys	rs782524617	missense variant	-	NC_000011.10:g.102839115A>C	ExAC,gnomAD
MMP3	P08254	p.Gln359Pro	rs369213425	missense variant	-	NC_000011.10:g.102838704T>G	TOPMed
MMP3	P08254	p.Phe360Leu	rs1555004965	missense variant	-	NC_000011.10:g.102838700G>T	gnomAD
MMP3	P08254	p.Trp361Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102838697C>A	NCI-TCGA
MMP3	P08254	p.Trp361Arg	rs1555004963	missense variant	-	NC_000011.10:g.102838699A>G	gnomAD
MMP3	P08254	p.Gly365Arg	rs782487861	missense variant	-	NC_000011.10:g.102838687C>T	ExAC,gnomAD
MMP3	P08254	p.Gly365Glu	rs1555004961	missense variant	-	NC_000011.10:g.102838686C>T	gnomAD
MMP3	P08254	p.Val368Ala	rs782640978	missense variant	-	NC_000011.10:g.102838677A>G	ExAC,gnomAD
MMP3	P08254	p.Arg369Ter	rs142121549	stop gained	-	NC_000011.10:g.102838675G>A	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Arg369Gln	rs781894748	missense variant	-	NC_000011.10:g.102838674C>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Tyr372Ter	rs1555004956	stop gained	-	NC_000011.10:g.102838664G>T	gnomAD
MMP3	P08254	p.Tyr372Cys	rs1555004957	missense variant	-	NC_000011.10:g.102838665T>C	gnomAD
MMP3	P08254	p.Pro373Ala	rs782730264	missense variant	-	NC_000011.10:g.102838663G>C	ExAC,gnomAD
MMP3	P08254	p.Arg374Ile	rs1284957979	missense variant	-	NC_000011.10:g.102838659C>A	TOPMed
MMP3	P08254	p.Gly375Asp	COSM3415430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102838656C>T	NCI-TCGA Cosmic
MMP3	P08254	p.His377Gln	rs41516350	missense variant	-	NC_000011.10:g.102838649G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.His377Tyr	rs782433018	missense variant	-	NC_000011.10:g.102838651G>A	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Thr378Ile	rs1245134952	missense variant	-	NC_000011.10:g.102838647G>A	TOPMed,gnomAD
MMP3	P08254	p.Gly380Ser	rs1555004947	missense variant	-	NC_000011.10:g.102838642C>T	gnomAD
MMP3	P08254	p.Phe381Leu	rs201667769	missense variant	-	NC_000011.10:g.102838637G>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Pro382Leu	rs1555004944	missense variant	-	NC_000011.10:g.102838635G>A	gnomAD
MMP3	P08254	p.Pro382Ser	rs1555004945	missense variant	-	NC_000011.10:g.102838636G>A	gnomAD
MMP3	P08254	p.Val385Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102838627C>A	NCI-TCGA
MMP3	P08254	p.Val385Met	rs202217886	missense variant	-	NC_000011.10:g.102838627C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Val385Leu	rs202217886	missense variant	-	NC_000011.10:g.102838627C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp389Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102838615C>A	NCI-TCGA
MMP3	P08254	p.Asp389Asn	rs1555004939	missense variant	-	NC_000011.10:g.102838615C>T	gnomAD
MMP3	P08254	p.Ala390Thr	rs782213429	missense variant	-	NC_000011.10:g.102838612C>T	ExAC,gnomAD
MMP3	P08254	p.Ala390Val	rs1162092449	missense variant	-	NC_000011.10:g.102838611G>A	TOPMed
MMP3	P08254	p.Ala391Thr	rs1555004936	missense variant	-	NC_000011.10:g.102838609C>T	gnomAD
MMP3	P08254	p.Ala391Asp	rs185081958	missense variant	-	NC_000011.10:g.102838608G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ala391Val	rs185081958	missense variant	-	NC_000011.10:g.102838608G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ile392Thr	rs782671460	missense variant	-	NC_000011.10:g.102838605A>G	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Ile392Ser	rs782671460	missense variant	-	NC_000011.10:g.102838605A>C	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Glu396Lys	COSM3442724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102838594C>T	NCI-TCGA Cosmic
MMP3	P08254	p.Lys397Asn	rs981991768	missense variant	-	NC_000011.10:g.102838589C>A	-
MMP3	P08254	p.Asn398Lys	rs1330316570	missense variant	-	NC_000011.10:g.102838586G>C	TOPMed
MMP3	P08254	p.Tyr401His	rs373335227	missense variant	-	NC_000011.10:g.102838579A>G	ESP,gnomAD
MMP3	P08254	p.Tyr401Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102838579A>C	NCI-TCGA
MMP3	P08254	p.Phe402Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102838574G>T	NCI-TCGA
MMP3	P08254	p.Phe403Leu	rs782593797	missense variant	-	NC_000011.10:g.102838571A>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Phe403Cys	rs782182277	missense variant	-	NC_000011.10:g.102838572A>C	ExAC,gnomAD
MMP3	P08254	p.Phe403Ser	rs782182277	missense variant	-	NC_000011.10:g.102838572A>G	ExAC,gnomAD
MMP3	P08254	p.Trp409Ter	rs1280008452	stop gained	-	NC_000011.10:g.102838553C>T	TOPMed
MMP3	P08254	p.Arg410Ter	rs1378359129	stop gained	-	NC_000011.10:g.102838552T>A	TOPMed
MMP3	P08254	p.Asp412His	COSM428293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102837397C>G	NCI-TCGA Cosmic
MMP3	P08254	p.Glu413Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102837392C>G	NCI-TCGA
MMP3	P08254	p.Glu413Lys	rs782608620	missense variant	-	NC_000011.10:g.102837394C>T	ExAC,gnomAD
MMP3	P08254	p.Lys414Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102837389C>A	NCI-TCGA
MMP3	P08254	p.Arg415Gly	rs1555004756	missense variant	-	NC_000011.10:g.102837388T>C	gnomAD
MMP3	P08254	p.Ser417Pro	rs371658363	missense variant	-	NC_000011.10:g.102837382A>G	ESP
MMP3	P08254	p.Met418Thr	rs1357499164	missense variant	-	NC_000011.10:g.102837378A>G	TOPMed,gnomAD
MMP3	P08254	p.Glu419Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102837376C>T	NCI-TCGA
MMP3	P08254	p.Glu419Gln	rs1555004751	missense variant	-	NC_000011.10:g.102837376C>G	gnomAD
MMP3	P08254	p.Gly421Asp	rs377586699	missense variant	-	NC_000011.10:g.102837369C>T	ESP,ExAC,TOPMed,gnomAD
MMP3	P08254	p.Phe422Leu	rs1555004748	missense variant	-	NC_000011.10:g.102837367A>G	gnomAD
MMP3	P08254	p.Lys424Arg	rs539243624	missense variant	-	NC_000011.10:g.102837360T>C	gnomAD
MMP3	P08254	p.Gln425Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102837358G>C	NCI-TCGA
MMP3	P08254	p.Ile426Thr	rs1555004742	missense variant	-	NC_000011.10:g.102837354A>G	gnomAD
MMP3	P08254	p.Glu428Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.102837349C>A	NCI-TCGA
MMP3	P08254	p.Glu428Gly	rs782820652	missense variant	-	NC_000011.10:g.102837348T>C	ExAC,gnomAD
MMP3	P08254	p.Glu428Lys	rs1555004741	missense variant	-	NC_000011.10:g.102837349C>T	gnomAD
MMP3	P08254	p.Pro431Thr	rs1555004739	missense variant	-	NC_000011.10:g.102837340G>T	gnomAD
MMP3	P08254	p.Asp434Tyr	rs781807154	missense variant	-	NC_000011.10:g.102837331C>A	ExAC,gnomAD
MMP3	P08254	p.Ile437Thr	rs782102554	missense variant	-	NC_000011.10:g.102837321A>G	ExAC,gnomAD
MMP3	P08254	p.Ala439Val	rs1555004734	missense variant	-	NC_000011.10:g.102837315G>A	gnomAD
MMP3	P08254	p.Phe441Ile	rs1555004732	missense variant	-	NC_000011.10:g.102837310A>T	TOPMed
MMP3	P08254	p.Glu443Ala	rs1347820056	missense variant	-	NC_000011.10:g.102837303T>G	TOPMed,gnomAD
MMP3	P08254	p.Glu443Gly	rs1347820056	missense variant	-	NC_000011.10:g.102837303T>C	TOPMed,gnomAD
MMP3	P08254	p.Phe444Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102837300A>C	NCI-TCGA
MMP3	P08254	p.Gly445Trp	rs781997796	missense variant	-	NC_000011.10:g.102837298C>A	ExAC,gnomAD
MMP3	P08254	p.Gly445Ala	rs782731267	missense variant	-	NC_000011.10:g.102836226C>G	ExAC,gnomAD
MMP3	P08254	p.Phe446Leu	rs1555004526	missense variant	-	NC_000011.10:g.102836222G>T	gnomAD
MMP3	P08254	p.Phe446Leu	rs1555004527	missense variant	-	NC_000011.10:g.102836224A>G	gnomAD
MMP3	P08254	p.Phe447Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102836219A>C	NCI-TCGA
MMP3	P08254	p.Tyr448His	rs782074937	missense variant	-	NC_000011.10:g.102836218A>G	ExAC,gnomAD
MMP3	P08254	p.Phe449Leu	rs1252024017	missense variant	-	NC_000011.10:g.102836213G>T	TOPMed,gnomAD
MMP3	P08254	p.Thr451Ala	rs1555004525	missense variant	-	NC_000011.10:g.102836209T>C	gnomAD
MMP3	P08254	p.Gly452Val	rs561710994	missense variant	-	NC_000011.10:g.102836205C>A	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Leu456Trp	rs1415691035	missense variant	-	NC_000011.10:g.102836193A>C	TOPMed
MMP3	P08254	p.Glu457Lys	rs782025917	missense variant	-	NC_000011.10:g.102836191C>T	ExAC,gnomAD
MMP3	P08254	p.Phe458Ser	rs1169574624	missense variant	-	NC_000011.10:g.102836187A>G	TOPMed
MMP3	P08254	p.Phe458Leu	rs782178682	missense variant	-	NC_000011.10:g.102836186A>T	ExAC,TOPMed,gnomAD
MMP3	P08254	p.Asp459Glu	rs782625834	missense variant	-	NC_000011.10:g.102836183G>T	ExAC,gnomAD
MMP3	P08254	p.Asp459Tyr	rs1555004520	missense variant	-	NC_000011.10:g.102836185C>A	gnomAD
MMP3	P08254	p.Pro460Ser	rs780504353	missense variant	-	NC_000011.10:g.102836182G>A	-
MMP3	P08254	p.Ala462Gly	rs1555004517	missense variant	-	NC_000011.10:g.102836175G>C	gnomAD
MMP3	P08254	p.Lys463Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102836171C>A	NCI-TCGA
MMP3	P08254	p.Lys464Thr	COSM4403164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102836169T>G	NCI-TCGA Cosmic
MMP3	P08254	p.Val465Met	rs1555004516	missense variant	-	NC_000011.10:g.102836167C>T	gnomAD
MMP3	P08254	p.His467Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.102836159G>T	NCI-TCGA
MMP3	P08254	p.Thr468Ser	rs567971149	missense variant	-	NC_000011.10:g.102836157G>C	1000Genomes,ExAC,gnomAD
MMP3	P08254	p.Thr468Ile	COSM922292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.102836157G>A	NCI-TCGA Cosmic
MMP3	P08254	p.Lys470Arg	rs1440053590	missense variant	-	NC_000011.10:g.102836151T>C	TOPMed
MMP3	P08254	p.Ser471Asn	rs138229802	missense variant	-	NC_000011.10:g.102836148C>T	ESP,TOPMed
MMP3	P08254	p.Ser471Thr	rs138229802	missense variant	-	NC_000011.10:g.102836148C>G	ESP,TOPMed
MMP3	P08254	p.Ser473Ile	rs1414397533	missense variant	-	NC_000011.10:g.102836142C>A	TOPMed
MMP3	P08254	p.Trp474Arg	rs782683357	missense variant	-	NC_000011.10:g.102836140A>G	ExAC,gnomAD
MMP3	P08254	p.Ter478Arg	rs1291730776	stop lost	-	NC_000011.10:g.102836128A>G	TOPMed
INHBA	P08476	p.Trp5Cys	rs1366906380	missense variant	-	NC_000007.14:g.41700360C>A	gnomAD
INHBA	P08476	p.Gly8Glu	rs1164410355	missense variant	-	NC_000007.14:g.41700352C>T	gnomAD
INHBA	P08476	p.Gly8Arg	rs1156510703	missense variant	-	NC_000007.14:g.41700353C>T	TOPMed
INHBA	P08476	p.Phe9Leu	rs1429366494	missense variant	-	NC_000007.14:g.41700348A>C	gnomAD
INHBA	P08476	p.Ala12Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700341C>T	NCI-TCGA
INHBA	P08476	p.Ala12Ser	rs1488241309	missense variant	-	NC_000007.14:g.41700341C>A	gnomAD
INHBA	P08476	p.Cys14Tyr	rs777959895	missense variant	-	NC_000007.14:g.41700334C>T	ExAC,gnomAD
INHBA	P08476	p.Cys14Phe	rs777959895	missense variant	-	NC_000007.14:g.41700334C>A	ExAC,gnomAD
INHBA	P08476	p.Cys14Ser	rs149209111	missense variant	-	NC_000007.14:g.41700335A>T	ESP,TOPMed
INHBA	P08476	p.Trp15Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700332A>T	NCI-TCGA
INHBA	P08476	p.Trp15Cys	rs933197708	missense variant	-	NC_000007.14:g.41700330C>A	TOPMed
INHBA	P08476	p.Ile16Thr	rs758814874	missense variant	-	NC_000007.14:g.41700328A>G	ExAC,gnomAD
INHBA	P08476	p.Val18Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700323C>A	NCI-TCGA
INHBA	P08476	p.Ser21Phe	COSM3923617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700313G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Thr23ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41700309G>-	NCI-TCGA
INHBA	P08476	p.Pro24Leu	rs765780968	missense variant	-	NC_000007.14:g.41700304G>A	ExAC,gnomAD
INHBA	P08476	p.Pro24Ala	rs1444327391	missense variant	-	NC_000007.14:g.41700305G>C	TOPMed
INHBA	P08476	p.Gly25Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41700302C>A	NCI-TCGA
INHBA	P08476	p.Ser26Phe	rs755619740	missense variant	-	NC_000007.14:g.41700298G>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu27Gln	rs1372354341	missense variant	-	NC_000007.14:g.41700296C>G	TOPMed
INHBA	P08476	p.Gly28Glu	rs972161023	missense variant	-	NC_000007.14:g.41700292C>T	gnomAD
INHBA	P08476	p.Gly28Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700293C>T	NCI-TCGA
INHBA	P08476	p.His29Asp	rs534590694	missense variant	-	NC_000007.14:g.41700290G>C	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.His29Tyr	rs534590694	missense variant	-	NC_000007.14:g.41700290G>A	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Ser30Asn	COSM3638689	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700286C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Ser30Arg	rs942081109	missense variant	-	NC_000007.14:g.41700285G>T	-
INHBA	P08476	p.Ala31Pro	rs1283898685	missense variant	-	NC_000007.14:g.41700284C>G	gnomAD
INHBA	P08476	p.Ala31Val	rs761497837	missense variant	-	NC_000007.14:g.41700283G>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala32Thr	rs376838491	missense variant	-	NC_000007.14:g.41700281C>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala32Gly	rs1488136875	missense variant	-	NC_000007.14:g.41700280G>C	gnomAD
INHBA	P08476	p.Pro33Thr	rs762816927	missense variant	-	NC_000007.14:g.41700278G>T	ExAC,gnomAD
INHBA	P08476	p.Asp34Asn	rs1261664857	missense variant	-	NC_000007.14:g.41700275C>T	gnomAD
INHBA	P08476	p.Pro36Arg	rs201591674	missense variant	-	NC_000007.14:g.41700268G>C	ExAC,gnomAD
INHBA	P08476	p.Ala39Val	COSM1089620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700259G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Ala39Glu	rs373520349	missense variant	-	NC_000007.14:g.41700259G>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Leu40Pro	rs1232597234	missense variant	-	NC_000007.14:g.41700256A>G	TOPMed
INHBA	P08476	p.Leu40Val	rs771248041	missense variant	-	NC_000007.14:g.41700257G>C	ExAC,gnomAD
INHBA	P08476	p.Ala41Val	rs373322295	missense variant	-	NC_000007.14:g.41700253G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala41Thr	rs984438766	missense variant	-	NC_000007.14:g.41700254C>T	TOPMed,gnomAD
INHBA	P08476	p.Ala41Gly	rs373322295	missense variant	-	NC_000007.14:g.41700253G>C	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala42Thr	rs376794102	missense variant	-	NC_000007.14:g.41700251C>T	ExAC,gnomAD
INHBA	P08476	p.Ala42Ser	rs376794102	missense variant	-	NC_000007.14:g.41700251C>A	ExAC,gnomAD
INHBA	P08476	p.Lys45Arg	rs953665038	missense variant	-	NC_000007.14:g.41700241T>C	TOPMed,gnomAD
INHBA	P08476	p.Pro48Leu	rs1316814689	missense variant	-	NC_000007.14:g.41700232G>A	TOPMed,gnomAD
INHBA	P08476	p.Pro48His	rs1316814689	missense variant	-	NC_000007.14:g.41700232G>T	TOPMed,gnomAD
INHBA	P08476	p.Asn49Ser	rs1235277612	missense variant	-	NC_000007.14:g.41700229T>C	gnomAD
INHBA	P08476	p.Ser50Tyr	rs779271157	missense variant	-	NC_000007.14:g.41700226G>T	ExAC,gnomAD
INHBA	P08476	p.Ser50Cys	rs779271157	missense variant	-	NC_000007.14:g.41700226G>C	ExAC,gnomAD
INHBA	P08476	p.Pro52Ser	COSM1450706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700221G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Pro52Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700220G>T	NCI-TCGA
INHBA	P08476	p.Met54Ile	rs1030538647	missense variant	-	NC_000007.14:g.41700213C>A	TOPMed
INHBA	P08476	p.Glu56Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700207C>A	NCI-TCGA
INHBA	P08476	p.Ala57Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700205G>A	NCI-TCGA
INHBA	P08476	p.Val58Leu	rs1329616704	missense variant	-	NC_000007.14:g.41700203C>G	gnomAD
INHBA	P08476	p.His61Tyr	rs749899848	missense variant	-	NC_000007.14:g.41700194G>A	ExAC,gnomAD
INHBA	P08476	p.Asn64Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700183G>C	NCI-TCGA
INHBA	P08476	p.Arg71Ser	rs1441973969	missense variant	-	NC_000007.14:g.41700162T>G	gnomAD
INHBA	P08476	p.Pro72His	rs751118764	missense variant	-	NC_000007.14:g.41700160G>T	ExAC,gnomAD
INHBA	P08476	p.Asp73Asn	rs762653354	missense variant	-	NC_000007.14:g.41700158C>T	ExAC,gnomAD
INHBA	P08476	p.Val74Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700154A>G	NCI-TCGA
INHBA	P08476	p.Thr75Ser	rs182017908	missense variant	-	NC_000007.14:g.41700151G>C	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Thr75Pro	rs752596382	missense variant	-	NC_000007.14:g.41700152T>G	ExAC,gnomAD
INHBA	P08476	p.Thr75Ile	rs182017908	missense variant	-	NC_000007.14:g.41700151G>A	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gln76Ter	rs776731486	stop gained	-	NC_000007.14:g.41700149G>A	ExAC
INHBA	P08476	p.Gln76His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700147C>A	NCI-TCGA
INHBA	P08476	p.Pro77Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700146G>C	NCI-TCGA
INHBA	P08476	p.Val78Ile	rs771076354	missense variant	-	NC_000007.14:g.41700143C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro79Ser	rs760840635	missense variant	-	NC_000007.14:g.41700140G>A	ExAC,gnomAD
INHBA	P08476	p.Pro79Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700139G>A	NCI-TCGA
INHBA	P08476	p.Lys80Thr	rs1339554915	missense variant	-	NC_000007.14:g.41700136T>G	gnomAD
INHBA	P08476	p.Ala81Val	COSM1089617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700133G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Ala81Glu	COSM6177881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700133G>T	NCI-TCGA Cosmic
INHBA	P08476	p.Ala82Val	COSM3880978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700130G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Ala82Thr	rs1446232934	missense variant	-	NC_000007.14:g.41700131C>T	gnomAD
INHBA	P08476	p.Leu83Val	rs748436551	missense variant	-	NC_000007.14:g.41700128G>C	ExAC,gnomAD
INHBA	P08476	p.Asn85Ser	rs779371975	missense variant	-	NC_000007.14:g.41700121T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala86Val	rs749750926	missense variant	-	NC_000007.14:g.41700118G>A	ExAC,gnomAD
INHBA	P08476	p.Ile87Met	rs756693243	missense variant	-	NC_000007.14:g.41700114G>C	ExAC,gnomAD
INHBA	P08476	p.His91Arg	rs777279223	missense variant	-	NC_000007.14:g.41700103T>C	ExAC,gnomAD
INHBA	P08476	p.Val95Ile	rs752403730	missense variant	-	NC_000007.14:g.41700092C>T	ExAC,gnomAD
INHBA	P08476	p.Glu97Gln	rs540086083	missense variant	-	NC_000007.14:g.41700086C>G	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Glu97Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700084C>A	NCI-TCGA
INHBA	P08476	p.Asn98Lys	rs149702280	missense variant	-	NC_000007.14:g.41700081G>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Tyr100Asn	rs773386945	missense variant	-	NC_000007.14:g.41700077A>T	ExAC,gnomAD
INHBA	P08476	p.Asp105Tyr	rs1476143414	missense variant	-	NC_000007.14:g.41700062C>A	TOPMed
INHBA	P08476	p.Ile107Asn	COSM1131585	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700055A>T	NCI-TCGA Cosmic
INHBA	P08476	p.Ile107Ser	rs1001765662	missense variant	-	NC_000007.14:g.41700055A>C	TOPMed
INHBA	P08476	p.Ile107Thr	rs1001765662	missense variant	-	NC_000007.14:g.41700055A>G	TOPMed
INHBA	P08476	p.Gly108Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700052C>T	NCI-TCGA
INHBA	P08476	p.Gly108Arg	rs551268437	missense variant	-	NC_000007.14:g.41700053C>T	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Ala111Glu	rs1339899817	missense variant	-	NC_000007.14:g.41700043G>T	gnomAD
INHBA	P08476	p.Glu112Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41700041C>A	NCI-TCGA
INHBA	P08476	p.Met113Val	rs768954945	missense variant	-	NC_000007.14:g.41700038T>C	ExAC,gnomAD
INHBA	P08476	p.Glu115Gln	COSM746913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700032C>G	NCI-TCGA Cosmic
INHBA	P08476	p.Leu116Pro	COSM1254835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700028A>G	NCI-TCGA Cosmic
INHBA	P08476	p.Leu116Arg	COSM1450705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700028A>C	NCI-TCGA Cosmic
INHBA	P08476	p.Leu116Phe	rs780538034	missense variant	-	NC_000007.14:g.41700029G>A	ExAC,gnomAD
INHBA	P08476	p.Met117Thr	rs777383877	missense variant	-	NC_000007.14:g.41700025A>G	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Met117Val	rs746480596	missense variant	-	NC_000007.14:g.41700026T>C	ExAC
INHBA	P08476	p.Glu118Lys	COSM3638688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41700023C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Gln119Glu	rs747778899	missense variant	-	NC_000007.14:g.41700020G>C	ExAC,gnomAD
INHBA	P08476	p.Thr120Ile	rs778711643	missense variant	-	NC_000007.14:g.41700016G>A	ExAC,gnomAD
INHBA	P08476	p.Glu122Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41700009C>A	NCI-TCGA
INHBA	P08476	p.Glu128Gln	rs1261026870	missense variant	-	NC_000007.14:g.41699993C>G	gnomAD
INHBA	P08476	p.Gly130Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41699987C>T	NCI-TCGA
INHBA	P08476	p.Thr131Ile	rs764280388	missense variant	-	NC_000007.14:g.41690539G>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala132Asp	rs1369747479	missense variant	-	NC_000007.14:g.41690536G>T	TOPMed,gnomAD
INHBA	P08476	p.Arg133Lys	rs763203259	missense variant	-	NC_000007.14:g.41690533C>T	ExAC,gnomAD
INHBA	P08476	p.Lys134Glu	rs765588441	missense variant	-	NC_000007.14:g.41690531T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Thr135Met	rs142519810	missense variant	-	NC_000007.14:g.41690527G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu139Asp	COSM6177882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690514C>G	NCI-TCGA Cosmic
INHBA	P08476	p.Glu139Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690516C>T	NCI-TCGA
INHBA	P08476	p.Glu139Ala	rs139371691	missense variant	-	NC_000007.14:g.41690515T>G	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ile140Thr	COSM4820280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690512A>G	NCI-TCGA Cosmic
INHBA	P08476	p.Ser141Phe	COSM3638685	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690509G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Lys142Asn	COSM6177883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690505C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Glu143Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690504C>T	NCI-TCGA
INHBA	P08476	p.Glu143Ala	rs1221555253	missense variant	-	NC_000007.14:g.41690503T>G	TOPMed
INHBA	P08476	p.Gly144Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690500C>T	NCI-TCGA
INHBA	P08476	p.Asp146Asn	rs979257752	missense variant	-	NC_000007.14:g.41690495C>T	gnomAD
INHBA	P08476	p.Glu151Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690480C>G	NCI-TCGA
INHBA	P08476	p.Arg152His	rs377167564	missense variant	-	NC_000007.14:g.41690476C>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg152Cys	rs748897120	missense variant	-	NC_000007.14:g.41690477G>A	ExAC,gnomAD
INHBA	P08476	p.Arg152Leu	rs377167564	missense variant	-	NC_000007.14:g.41690476C>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu154Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690471C>T	NCI-TCGA
INHBA	P08476	p.Trp156Ter	COSM1089616	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41690464C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Trp156Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41690463C>T	NCI-TCGA
INHBA	P08476	p.Leu159Val	rs769570431	missense variant	-	NC_000007.14:g.41690456G>C	ExAC,gnomAD
INHBA	P08476	p.Val161SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41690451T>-	NCI-TCGA
INHBA	P08476	p.Val161Phe	rs1354806996	missense variant	-	NC_000007.14:g.41690450C>A	gnomAD
INHBA	P08476	p.Pro162Ser	COSM3638684	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690447G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Pro162His	COSM3880976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690446G>T	NCI-TCGA Cosmic
INHBA	P08476	p.Pro162Leu	rs1397640362	missense variant	-	NC_000007.14:g.41690446G>A	gnomAD
INHBA	P08476	p.Ala164Thr	rs373733975	missense variant	-	NC_000007.14:g.41690441C>T	ESP,ExAC,gnomAD
INHBA	P08476	p.Arg166Ser	rs1374218408	missense variant	-	NC_000007.14:g.41690433C>A	TOPMed,gnomAD
INHBA	P08476	p.Arg166Trp	rs781179854	missense variant	-	NC_000007.14:g.41690435T>A	ExAC,gnomAD
INHBA	P08476	p.Arg168Lys	COSM3638683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690428C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Lys170Ile	rs777791358	missense variant	-	NC_000007.14:g.41690422T>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Lys170Thr	rs777791358	missense variant	-	NC_000007.14:g.41690422T>G	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Val171Ile	rs1434057860	missense variant	-	NC_000007.14:g.41690420C>T	gnomAD
INHBA	P08476	p.Arg174Ser	COSM601369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690411G>T	NCI-TCGA Cosmic
INHBA	P08476	p.Arg174His	rs537531066	missense variant	-	NC_000007.14:g.41690410C>T	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg174Cys	rs758496316	missense variant	-	NC_000007.14:g.41690411G>A	ExAC,gnomAD
INHBA	P08476	p.Arg174Leu	rs537531066	missense variant	-	NC_000007.14:g.41690410C>A	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Leu175SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41690408G>-	NCI-TCGA
INHBA	P08476	p.Phe176Ile	rs1182490702	missense variant	-	NC_000007.14:g.41690405A>T	gnomAD
INHBA	P08476	p.Gln177Glu	COSM6110269	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690402G>C	NCI-TCGA Cosmic
INHBA	P08476	p.Gln177His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690400C>G	NCI-TCGA
INHBA	P08476	p.Gln178Arg	rs759930790	missense variant	-	NC_000007.14:g.41690398T>C	ExAC,gnomAD
INHBA	P08476	p.Gln179Ter	COSM5768309	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41690396G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Gln179Pro	rs766876018	missense variant	-	NC_000007.14:g.41690395T>G	ExAC,gnomAD
INHBA	P08476	p.Gln179His	rs761221455	missense variant	-	NC_000007.14:g.41690394C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gln179Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690396G>C	NCI-TCGA
INHBA	P08476	p.Pro182Leu	COSM3431597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690386G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Pro182Gln	rs766987359	missense variant	-	NC_000007.14:g.41690386G>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro182Arg	rs766987359	missense variant	-	NC_000007.14:g.41690386G>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro182Ala	rs773874254	missense variant	-	NC_000007.14:g.41690387G>C	ExAC,gnomAD
INHBA	P08476	p.Gly184Ser	rs769393297	missense variant	-	NC_000007.14:g.41690381C>T	ExAC,gnomAD
INHBA	P08476	p.Ser185Asn	rs868188277	missense variant	-	NC_000007.14:g.41690377C>T	gnomAD
INHBA	P08476	p.Ser185Thr	rs868188277	missense variant	-	NC_000007.14:g.41690377C>G	gnomAD
INHBA	P08476	p.Asp187Asn	COSM3638682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690372C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Asp187His	rs1380653684	missense variant	-	NC_000007.14:g.41690372C>G	TOPMed,gnomAD
INHBA	P08476	p.Gly189Arg	rs1025790050	missense variant	-	NC_000007.14:g.41690366C>T	TOPMed,gnomAD
INHBA	P08476	p.Glu190Lys	rs867739441	missense variant	-	NC_000007.14:g.41690363C>T	-
INHBA	P08476	p.Glu190Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41690363C>A	NCI-TCGA
INHBA	P08476	p.Glu190GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41690363_41690364insCCCTGTGTCCAAGCTG	NCI-TCGA
INHBA	P08476	p.Glu191Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690360C>T	NCI-TCGA
INHBA	P08476	p.Glu191Asp	rs138705117	missense variant	-	NC_000007.14:g.41690358C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala192Ser	rs780890864	missense variant	-	NC_000007.14:g.41690357C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala192Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690356G>A	NCI-TCGA
INHBA	P08476	p.Ala192Thr	rs780890864	missense variant	-	NC_000007.14:g.41690357C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu193Lys	rs1007889051	missense variant	-	NC_000007.14:g.41690354C>T	TOPMed,gnomAD
INHBA	P08476	p.Glu194Gln	rs1165688714	missense variant	-	NC_000007.14:g.41690351C>G	gnomAD
INHBA	P08476	p.Glu194Lys	rs1165688714	missense variant	-	NC_000007.14:g.41690351C>T	gnomAD
INHBA	P08476	p.Val195Glu	rs746900962	missense variant	-	NC_000007.14:g.41690347A>T	ExAC
INHBA	P08476	p.Gly196Asp	rs200425294	missense variant	-	NC_000007.14:g.41690344C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly196Ser	rs1425813756	missense variant	-	NC_000007.14:g.41690345C>T	gnomAD
INHBA	P08476	p.Lys198Met	rs1345043414	missense variant	-	NC_000007.14:g.41690338T>A	TOPMed
INHBA	P08476	p.Gly199Glu	rs111379520	missense variant	-	NC_000007.14:g.41690335C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Arg	rs146325702	missense variant	-	NC_000007.14:g.41690336C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Trp	rs146325702	missense variant	-	NC_000007.14:g.41690336C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Arg	rs146325702	missense variant	-	NC_000007.14:g.41690336C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Ala	rs111379520	missense variant	-	NC_000007.14:g.41690335C>G	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu200Lys	rs1379000367	missense variant	-	NC_000007.14:g.41690333C>T	gnomAD
INHBA	P08476	p.Arg201Lys	rs1214870637	missense variant	-	NC_000007.14:g.41690329C>T	gnomAD
INHBA	P08476	p.Ser202Cys	COSM3412043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690327T>A	NCI-TCGA Cosmic
INHBA	P08476	p.Glu203Ter	COSM4921135	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41690324C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Glu203Lys	COSM3923616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690324C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Leu204Arg	rs376470270	missense variant	-	NC_000007.14:g.41690320A>C	ESP
INHBA	P08476	p.Leu204Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690321G>T	NCI-TCGA
INHBA	P08476	p.Leu206Val	rs1266432565	missense variant	-	NC_000007.14:g.41690315G>C	gnomAD
INHBA	P08476	p.del209TerSerTrpArgSerValGlyAlaHisArgValAlaGlnPro	rs1221757242	stop gained	-	NC_000007.14:g.41690306_41690307insGGGCTGGGCAACTCTATGAGCACCCACACTCCTCCACGATCA	gnomAD
INHBA	P08476	p.Val210Leu	rs1309932151	missense variant	-	NC_000007.14:g.41690303C>A	gnomAD
INHBA	P08476	p.Val211Leu	COSM746914	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690300C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Val211Ile	rs1309408013	missense variant	-	NC_000007.14:g.41690300C>T	gnomAD
INHBA	P08476	p.Asp212Glu	rs149369067	missense variant	-	NC_000007.14:g.41690295G>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala213Thr	rs762543780	missense variant	-	NC_000007.14:g.41690294C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala213Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690294C>G	NCI-TCGA
INHBA	P08476	p.Ala213Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690293G>A	NCI-TCGA
INHBA	P08476	p.Ala213Ser	rs762543780	missense variant	-	NC_000007.14:g.41690294C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg214Trp	rs923669088	missense variant	-	NC_000007.14:g.41690291G>A	-
INHBA	P08476	p.Arg214Gln	rs1043609570	missense variant	-	NC_000007.14:g.41690290C>T	gnomAD
INHBA	P08476	p.Lys215Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690288T>C	NCI-TCGA
INHBA	P08476	p.Thr217Ser	rs759072574	missense variant	-	NC_000007.14:g.41690281G>C	ExAC,gnomAD
INHBA	P08476	p.Thr217Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690281G>A	NCI-TCGA
INHBA	P08476	p.Trp218Ter	COSM1089615	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41690277C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Phe221Leu	rs776370904	missense variant	-	NC_000007.14:g.41690268G>C	ExAC,gnomAD
INHBA	P08476	p.Pro222Ser	rs770655825	missense variant	-	NC_000007.14:g.41690267G>A	ExAC,gnomAD
INHBA	P08476	p.Arg229Pro	rs138819536	missense variant	-	NC_000007.14:g.41690245C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg229Gln	rs138819536	missense variant	-	NC_000007.14:g.41690245C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg229Trp	rs908163566	missense variant	-	NC_000007.14:g.41690246G>A	TOPMed
INHBA	P08476	p.Leu230Met	rs1489240461	missense variant	-	NC_000007.14:g.41690243A>T	gnomAD
INHBA	P08476	p.Leu231Met	rs748226962	missense variant	-	NC_000007.14:g.41690240G>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gln233Glu	rs980571220	missense variant	-	NC_000007.14:g.41690234G>C	TOPMed,gnomAD
INHBA	P08476	p.Gln233Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41690234G>A	NCI-TCGA
INHBA	P08476	p.Ser236Gly	rs778816816	missense variant	-	NC_000007.14:g.41690225T>C	ExAC,gnomAD
INHBA	P08476	p.Val240Phe	rs1229001644	missense variant	-	NC_000007.14:g.41690213C>A	TOPMed
INHBA	P08476	p.Val240Ile	rs1229001644	missense variant	-	NC_000007.14:g.41690213C>T	TOPMed
INHBA	P08476	p.Arg241Trp	rs150182559	missense variant	-	NC_000007.14:g.41690210G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg241Gln	rs756546726	missense variant	-	NC_000007.14:g.41690209C>T	ExAC,gnomAD
INHBA	P08476	p.Cys244Tyr	COSM6110271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690200C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Glu245Lys	rs1365746909	missense variant	-	NC_000007.14:g.41690198C>T	TOPMed,gnomAD
INHBA	P08476	p.Glu245Gln	rs1365746909	missense variant	-	NC_000007.14:g.41690198C>G	TOPMed,gnomAD
INHBA	P08476	p.Gln246Leu	COSM6177885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690194T>A	NCI-TCGA Cosmic
INHBA	P08476	p.Gln246His	rs757882910	missense variant	-	NC_000007.14:g.41690193C>G	ExAC,gnomAD
INHBA	P08476	p.Gln248Arg	rs752140467	missense variant	-	NC_000007.14:g.41690188T>C	ExAC,gnomAD
INHBA	P08476	p.Ser250Asn	rs764604932	missense variant	-	NC_000007.14:g.41690182C>T	ExAC,gnomAD
INHBA	P08476	p.Gly251Cys	rs1168655188	missense variant	-	NC_000007.14:g.41690180C>A	gnomAD
INHBA	P08476	p.Ala252Thr	COSM1089613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690177C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Ala252Ser	rs1378762087	missense variant	-	NC_000007.14:g.41690177C>A	gnomAD
INHBA	P08476	p.Ala252Asp	rs1290822028	missense variant	-	NC_000007.14:g.41690176G>T	TOPMed
INHBA	P08476	p.Val255Phe	rs1163090037	missense variant	-	NC_000007.14:g.41690168C>A	gnomAD
INHBA	P08476	p.Val255Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690167A>C	NCI-TCGA
INHBA	P08476	p.Leu256Phe	COSM3638675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690165G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Leu257Pro	rs1192011470	missense variant	-	NC_000007.14:g.41690161A>G	TOPMed
INHBA	P08476	p.Gly258Arg	COSM1450702	insertion	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690155_41690156insTCC	NCI-TCGA Cosmic
INHBA	P08476	p.Gly258Val	rs1431859332	missense variant	-	NC_000007.14:g.41690158C>A	TOPMed,gnomAD
INHBA	P08476	p.Gly258Asp	rs1431859332	missense variant	-	NC_000007.14:g.41690158C>T	TOPMed,gnomAD
INHBA	P08476	p.Gly258Ser	rs1178685586	missense variant	-	NC_000007.14:g.41690159C>T	gnomAD
INHBA	P08476	p.Lys259Glu	rs1450176512	missense variant	-	NC_000007.14:g.41690156T>C	TOPMed
INHBA	P08476	p.Lys261Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690148C>G	NCI-TCGA
INHBA	P08476	p.Lys262Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690146T>A	NCI-TCGA
INHBA	P08476	p.Glu264Ter	COSM281930	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41690141C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Glu265Lys	rs1371913954	missense variant	-	NC_000007.14:g.41690138C>T	TOPMed
INHBA	P08476	p.Glu265Gly	rs1192544869	missense variant	-	NC_000007.14:g.41690137T>C	gnomAD
INHBA	P08476	p.Gly267Trp	COSM6110272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690132C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Gly267Arg	rs760441012	missense variant	-	NC_000007.14:g.41690132C>T	ExAC,gnomAD
INHBA	P08476	p.Gly267Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690131C>A	NCI-TCGA
INHBA	P08476	p.Gly267Ala	rs1193620503	missense variant	-	NC_000007.14:g.41690131C>G	gnomAD
INHBA	P08476	p.Glu268LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41690129C>-	NCI-TCGA
INHBA	P08476	p.Gly269Glu	rs779220866	missense variant	-	NC_000007.14:g.41690125C>T	TOPMed,gnomAD
INHBA	P08476	p.Gly269Val	rs779220866	missense variant	-	NC_000007.14:g.41690125C>A	TOPMed,gnomAD
INHBA	P08476	p.Lys271Arg	rs771884298	missense variant	-	NC_000007.14:g.41690119T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Lys272Arg	rs1390115330	missense variant	-	NC_000007.14:g.41690116T>C	TOPMed
INHBA	P08476	p.Gly273AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41690113C>-	NCI-TCGA
INHBA	P08476	p.Gly273Ser	rs1435204559	missense variant	-	NC_000007.14:g.41690114C>T	TOPMed
INHBA	P08476	p.Gly274Val	COSM321011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690110C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Gly274Glu	rs569482596	missense variant	-	NC_000007.14:g.41690110C>T	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly274Arg	rs768547360	missense variant	-	NC_000007.14:g.41690111C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly275Ser	rs780414158	missense variant	-	NC_000007.14:g.41690108C>T	ExAC,gnomAD
INHBA	P08476	p.Glu276Lys	rs1355421314	missense variant	-	NC_000007.14:g.41690105C>T	TOPMed
INHBA	P08476	p.Gly277Ser	rs1390964419	missense variant	-	NC_000007.14:g.41690102C>T	gnomAD
INHBA	P08476	p.Gly278Glu	rs1191953816	missense variant	-	NC_000007.14:g.41690098C>T	gnomAD
INHBA	P08476	p.Ala279Ser	COSM485325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690096C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Ala279Val	rs1211988783	missense variant	-	NC_000007.14:g.41690095G>A	TOPMed
INHBA	P08476	p.Gly280Arg	rs951492435	missense variant	-	NC_000007.14:g.41690093C>T	TOPMed,gnomAD
INHBA	P08476	p.Gly280Glu	VAR_072640	Missense	-	-	UniProt
INHBA	P08476	p.Asp282Asn	rs1208258694	missense variant	-	NC_000007.14:g.41690087C>T	TOPMed
INHBA	P08476	p.Asp282Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690086T>C	NCI-TCGA
INHBA	P08476	p.Glu283Asp	COSM6177887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690082C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Glu283Gln	rs1305050306	missense variant	-	NC_000007.14:g.41690084C>G	gnomAD
INHBA	P08476	p.Glu284Lys	rs1488698571	missense variant	-	NC_000007.14:g.41690081C>T	gnomAD
INHBA	P08476	p.Gln287Glu	rs1464988141	missense variant	-	NC_000007.14:g.41690072G>C	gnomAD
INHBA	P08476	p.Pro291Ser	rs1159649174	missense variant	-	NC_000007.14:g.41690060G>A	gnomAD
INHBA	P08476	p.Met294Thr	rs1381819254	missense variant	-	NC_000007.14:g.41690050A>G	gnomAD
INHBA	P08476	p.Met294Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690049C>A	NCI-TCGA
INHBA	P08476	p.Gln296His	COSM1329828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690043C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Arg298Gln	COSM4692500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690038C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Arg298Trp	rs373613637	missense variant	-	NC_000007.14:g.41690039G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.His303Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690024G>T	NCI-TCGA
INHBA	P08476	p.Arg306Gly	rs564878978	missense variant	-	NC_000007.14:g.41690015G>C	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Arg306Cys	rs564878978	missense variant	-	NC_000007.14:g.41690015G>A	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Arg306His	rs1202073030	missense variant	-	NC_000007.14:g.41690014C>T	gnomAD
INHBA	P08476	p.Arg306Pro	rs1202073030	missense variant	-	NC_000007.14:g.41690014C>G	gnomAD
INHBA	P08476	p.Arg306Ser	rs564878978	missense variant	-	NC_000007.14:g.41690015G>T	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Arg308Cys	COSM1450701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690009G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Arg309Leu	COSM6177888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690005C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Arg309Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41690005C>T	NCI-TCGA
INHBA	P08476	p.Arg310Trp	COSM1089612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41690003G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Gly311Asp	COSM3638671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689999C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Gly311Arg	rs35168740	missense variant	-	NC_000007.14:g.41690000C>G	TOPMed
INHBA	P08476	p.Gly311Ser	rs35168740	missense variant	-	NC_000007.14:g.41690000C>T	TOPMed
INHBA	P08476	p.Val318Ile	rs772872634	missense variant	-	NC_000007.14:g.41689979C>T	ExAC,gnomAD
INHBA	P08476	p.Ile320Val	rs962913455	missense variant	-	NC_000007.14:g.41689973T>C	TOPMed,gnomAD
INHBA	P08476	p.Phe326Leu	rs1356119994	missense variant	-	NC_000007.14:g.41689953G>T	TOPMed,gnomAD
INHBA	P08476	p.Phe330Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689941G>T	NCI-TCGA
INHBA	P08476	p.Gly334Ser	rs138538132	missense variant	-	NC_000007.14:g.41689931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly334Cys	rs138538132	missense variant	-	NC_000007.14:g.41689931C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly334Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689930C>T	NCI-TCGA
INHBA	P08476	p.Asn336Asp	rs768700046	missense variant	-	NC_000007.14:g.41689925T>C	ExAC,gnomAD
INHBA	P08476	p.Asn336Lys	rs762923659	missense variant	-	NC_000007.14:g.41689923A>T	ExAC,gnomAD
INHBA	P08476	p.Trp338Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41689918C>T	NCI-TCGA
INHBA	P08476	p.Trp338Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689919A>T	NCI-TCGA
INHBA	P08476	p.Ile339Val	rs775755149	missense variant	-	NC_000007.14:g.41689916T>C	ExAC,gnomAD
INHBA	P08476	p.Ala341Thr	COSM746916	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689910C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Pro342Leu	COSM3638670	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689906G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Ser343Cys	rs1238388233	missense variant	-	NC_000007.14:g.41689903G>C	TOPMed
INHBA	P08476	p.Tyr345Cys	rs1156386837	missense variant	-	NC_000007.14:g.41689897T>C	gnomAD
INHBA	P08476	p.Ala347Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689891G>A	NCI-TCGA
INHBA	P08476	p.Asn348Ser	rs771134702	missense variant	-	NC_000007.14:g.41689888T>C	ExAC,gnomAD
INHBA	P08476	p.Cys350Arg	COSM298102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689883A>G	NCI-TCGA Cosmic
INHBA	P08476	p.Cys350Trp	RCV000709850	missense variant	-	NC_000007.14:g.41689881G>C	ClinVar
INHBA	P08476	p.Pro355Arg	rs747474916	missense variant	-	NC_000007.14:g.41689867G>C	ExAC,gnomAD
INHBA	P08476	p.Pro355Leu	rs747474916	missense variant	-	NC_000007.14:g.41689867G>A	ExAC,gnomAD
INHBA	P08476	p.Pro355Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689868G>T	NCI-TCGA
INHBA	P08476	p.Ser356Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689865T>A	NCI-TCGA
INHBA	P08476	p.Ser356Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689864C>T	NCI-TCGA
INHBA	P08476	p.Ser362Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689846G>A	NCI-TCGA
INHBA	P08476	p.Ser364Thr	rs753232360	missense variant	-	NC_000007.14:g.41689841A>T	ExAC,gnomAD
INHBA	P08476	p.Ser364ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41689842C>-	NCI-TCGA
INHBA	P08476	p.Ser370Leu	COSM5510214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689822G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Ser370Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41689822G>C	NCI-TCGA
INHBA	P08476	p.Thr371Ile	rs1357347047	missense variant	-	NC_000007.14:g.41689819G>A	gnomAD
INHBA	P08476	p.Val372Phe	COSM6110273	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689817C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Ile373Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689812G>C	NCI-TCGA
INHBA	P08476	p.Tyr376His	rs751423099	missense variant	-	NC_000007.14:g.41689805A>G	ExAC,gnomAD
INHBA	P08476	p.Arg377Cys	COSM1450700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689802G>A	NCI-TCGA Cosmic
INHBA	P08476	p.Arg377His	COSM188210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689801C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Arg379Gln	COSM3229806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689795C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Arg379Trp	COSM188209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689796G>A	NCI-TCGA Cosmic
INHBA	P08476	p.His381Arg	rs1361746138	missense variant	-	NC_000007.14:g.41689789T>C	gnomAD
INHBA	P08476	p.His381Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689790G>T	NCI-TCGA
INHBA	P08476	p.His381IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41689790G>-	NCI-TCGA
INHBA	P08476	p.Ser382AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41689787T>-	NCI-TCGA
INHBA	P08476	p.Ser382Arg	rs376722349	missense variant	-	NC_000007.14:g.41689785G>C	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro383Leu	rs1157959739	missense variant	-	NC_000007.14:g.41689783G>A	TOPMed
INHBA	P08476	p.Pro383Thr	rs1318105737	missense variant	-	NC_000007.14:g.41689784G>T	gnomAD
INHBA	P08476	p.Ala385Ser	COSM1450697	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689778C>A	NCI-TCGA Cosmic
INHBA	P08476	p.Asn386Lys	rs1399739221	missense variant	-	NC_000007.14:g.41689773G>T	gnomAD
INHBA	P08476	p.Asn386Ser	rs1361491625	missense variant	-	NC_000007.14:g.41689774T>C	TOPMed
INHBA	P08476	p.Lys388Arg	rs759695534	missense variant	-	NC_000007.14:g.41689768T>C	ExAC,gnomAD
INHBA	P08476	p.Ser389IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41689766_41689767insT	NCI-TCGA
INHBA	P08476	p.Thr394Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689751T>A	NCI-TCGA
INHBA	P08476	p.Lys395Arg	rs771243659	missense variant	-	NC_000007.14:g.41689747T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg397Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689741C>T	NCI-TCGA
INHBA	P08476	p.Pro398Ser	rs747304324	missense variant	-	NC_000007.14:g.41689739G>A	ExAC,gnomAD
INHBA	P08476	p.Ser400Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689733A>G	NCI-TCGA
INHBA	P08476	p.Asp405Asn	COSM746917	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689718C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Asp406Ala	rs1374850253	missense variant	-	NC_000007.14:g.41689714T>G	TOPMed
INHBA	P08476	p.Gly407Cys	rs772344962	missense variant	-	NC_000007.14:g.41689712C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly407Ser	rs772344962	missense variant	-	NC_000007.14:g.41689712C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Lys412Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689696T>C	NCI-TCGA
INHBA	P08476	p.Asp414His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689691C>G	NCI-TCGA
INHBA	P08476	p.Asp414Tyr	rs779393124	missense variant	-	NC_000007.14:g.41689691C>A	ExAC,gnomAD
INHBA	P08476	p.Asn417Ser	COSM3880972	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689681T>C	NCI-TCGA Cosmic
INHBA	P08476	p.Asn417His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689682T>G	NCI-TCGA
INHBA	P08476	p.Met418Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689679T>A	NCI-TCGA
INHBA	P08476	p.Val420Met	rs749989847	missense variant	-	NC_000007.14:g.41689673C>T	ExAC,gnomAD
INHBA	P08476	p.Glu421Lys	COSM3923615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689670C>T	NCI-TCGA Cosmic
INHBA	P08476	p.Gly424Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689660C>A	NCI-TCGA
INHBA	P08476	p.Cys425Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41689657C>T	NCI-TCGA
INHBA	P08476	p.Ser426Thr	COSM4807994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41689655A>T	NCI-TCGA Cosmic
INHBA	P08476	p.Trp5Cys	rs1366906380	missense variant	-	NC_000007.14:g.41700360C>A	gnomAD
INHBA	P08476	p.Gly8Glu	rs1164410355	missense variant	-	NC_000007.14:g.41700352C>T	gnomAD
INHBA	P08476	p.Gly8Arg	rs1156510703	missense variant	-	NC_000007.14:g.41700353C>T	TOPMed
INHBA	P08476	p.Phe9Leu	rs1429366494	missense variant	-	NC_000007.14:g.41700348A>C	gnomAD
INHBA	P08476	p.Ala12Ser	rs1488241309	missense variant	-	NC_000007.14:g.41700341C>A	gnomAD
INHBA	P08476	p.Cys14Phe	rs777959895	missense variant	-	NC_000007.14:g.41700334C>A	ExAC,gnomAD
INHBA	P08476	p.Cys14Tyr	rs777959895	missense variant	-	NC_000007.14:g.41700334C>T	ExAC,gnomAD
INHBA	P08476	p.Cys14Ser	rs149209111	missense variant	-	NC_000007.14:g.41700335A>T	ESP,TOPMed
INHBA	P08476	p.Trp15Cys	rs933197708	missense variant	-	NC_000007.14:g.41700330C>A	TOPMed
INHBA	P08476	p.Ile16Thr	rs758814874	missense variant	-	NC_000007.14:g.41700328A>G	ExAC,gnomAD
INHBA	P08476	p.Pro24Ala	rs1444327391	missense variant	-	NC_000007.14:g.41700305G>C	TOPMed
INHBA	P08476	p.Pro24Leu	rs765780968	missense variant	-	NC_000007.14:g.41700304G>A	ExAC,gnomAD
INHBA	P08476	p.Ser26Phe	rs755619740	missense variant	-	NC_000007.14:g.41700298G>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu27Gln	rs1372354341	missense variant	-	NC_000007.14:g.41700296C>G	TOPMed
INHBA	P08476	p.Gly28Glu	rs972161023	missense variant	-	NC_000007.14:g.41700292C>T	gnomAD
INHBA	P08476	p.His29Asp	rs534590694	missense variant	-	NC_000007.14:g.41700290G>C	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.His29Tyr	rs534590694	missense variant	-	NC_000007.14:g.41700290G>A	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Ser30Arg	rs942081109	missense variant	-	NC_000007.14:g.41700285G>T	-
INHBA	P08476	p.Ala31Pro	rs1283898685	missense variant	-	NC_000007.14:g.41700284C>G	gnomAD
INHBA	P08476	p.Ala31Val	rs761497837	missense variant	-	NC_000007.14:g.41700283G>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala32Thr	rs376838491	missense variant	-	NC_000007.14:g.41700281C>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala32Gly	rs1488136875	missense variant	-	NC_000007.14:g.41700280G>C	gnomAD
INHBA	P08476	p.Pro33Thr	rs762816927	missense variant	-	NC_000007.14:g.41700278G>T	ExAC,gnomAD
INHBA	P08476	p.Asp34Asn	rs1261664857	missense variant	-	NC_000007.14:g.41700275C>T	gnomAD
INHBA	P08476	p.Pro36Arg	rs201591674	missense variant	-	NC_000007.14:g.41700268G>C	ExAC,gnomAD
INHBA	P08476	p.Ala39Glu	rs373520349	missense variant	-	NC_000007.14:g.41700259G>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Leu40Pro	rs1232597234	missense variant	-	NC_000007.14:g.41700256A>G	TOPMed
INHBA	P08476	p.Leu40Val	rs771248041	missense variant	-	NC_000007.14:g.41700257G>C	ExAC,gnomAD
INHBA	P08476	p.Ala41Thr	rs984438766	missense variant	-	NC_000007.14:g.41700254C>T	TOPMed,gnomAD
INHBA	P08476	p.Ala41Val	rs373322295	missense variant	-	NC_000007.14:g.41700253G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala41Gly	rs373322295	missense variant	-	NC_000007.14:g.41700253G>C	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala42Thr	rs376794102	missense variant	-	NC_000007.14:g.41700251C>T	ExAC,gnomAD
INHBA	P08476	p.Ala42Ser	rs376794102	missense variant	-	NC_000007.14:g.41700251C>A	ExAC,gnomAD
INHBA	P08476	p.Lys45Arg	rs953665038	missense variant	-	NC_000007.14:g.41700241T>C	TOPMed,gnomAD
INHBA	P08476	p.Pro48Leu	rs1316814689	missense variant	-	NC_000007.14:g.41700232G>A	TOPMed,gnomAD
INHBA	P08476	p.Pro48His	rs1316814689	missense variant	-	NC_000007.14:g.41700232G>T	TOPMed,gnomAD
INHBA	P08476	p.Asn49Ser	rs1235277612	missense variant	-	NC_000007.14:g.41700229T>C	gnomAD
INHBA	P08476	p.Ser50Tyr	rs779271157	missense variant	-	NC_000007.14:g.41700226G>T	ExAC,gnomAD
INHBA	P08476	p.Ser50Cys	rs779271157	missense variant	-	NC_000007.14:g.41700226G>C	ExAC,gnomAD
INHBA	P08476	p.Met54Ile	rs1030538647	missense variant	-	NC_000007.14:g.41700213C>A	TOPMed
INHBA	P08476	p.Val58Leu	rs1329616704	missense variant	-	NC_000007.14:g.41700203C>G	gnomAD
INHBA	P08476	p.His61Tyr	rs749899848	missense variant	-	NC_000007.14:g.41700194G>A	ExAC,gnomAD
INHBA	P08476	p.Arg71Ser	rs1441973969	missense variant	-	NC_000007.14:g.41700162T>G	gnomAD
INHBA	P08476	p.Pro72His	rs751118764	missense variant	-	NC_000007.14:g.41700160G>T	ExAC,gnomAD
INHBA	P08476	p.Asp73Asn	rs762653354	missense variant	-	NC_000007.14:g.41700158C>T	ExAC,gnomAD
INHBA	P08476	p.Thr75Pro	rs752596382	missense variant	-	NC_000007.14:g.41700152T>G	ExAC,gnomAD
INHBA	P08476	p.Thr75Ser	rs182017908	missense variant	-	NC_000007.14:g.41700151G>C	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Thr75Ile	rs182017908	missense variant	-	NC_000007.14:g.41700151G>A	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gln76Ter	rs776731486	stop gained	-	NC_000007.14:g.41700149G>A	ExAC
INHBA	P08476	p.Val78Ile	rs771076354	missense variant	-	NC_000007.14:g.41700143C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro79Ser	rs760840635	missense variant	-	NC_000007.14:g.41700140G>A	ExAC,gnomAD
INHBA	P08476	p.Lys80Thr	rs1339554915	missense variant	-	NC_000007.14:g.41700136T>G	gnomAD
INHBA	P08476	p.Ala82Thr	rs1446232934	missense variant	-	NC_000007.14:g.41700131C>T	gnomAD
INHBA	P08476	p.Leu83Val	rs748436551	missense variant	-	NC_000007.14:g.41700128G>C	ExAC,gnomAD
INHBA	P08476	p.Asn85Ser	rs779371975	missense variant	-	NC_000007.14:g.41700121T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala86Val	rs749750926	missense variant	-	NC_000007.14:g.41700118G>A	ExAC,gnomAD
INHBA	P08476	p.Ile87Met	rs756693243	missense variant	-	NC_000007.14:g.41700114G>C	ExAC,gnomAD
INHBA	P08476	p.His91Arg	rs777279223	missense variant	-	NC_000007.14:g.41700103T>C	ExAC,gnomAD
INHBA	P08476	p.Val95Ile	rs752403730	missense variant	-	NC_000007.14:g.41700092C>T	ExAC,gnomAD
INHBA	P08476	p.Glu97Gln	rs540086083	missense variant	-	NC_000007.14:g.41700086C>G	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Asn98Lys	rs149702280	missense variant	-	NC_000007.14:g.41700081G>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Tyr100Asn	rs773386945	missense variant	-	NC_000007.14:g.41700077A>T	ExAC,gnomAD
INHBA	P08476	p.Asp105Tyr	rs1476143414	missense variant	-	NC_000007.14:g.41700062C>A	TOPMed
INHBA	P08476	p.Ile107Ser	rs1001765662	missense variant	-	NC_000007.14:g.41700055A>C	TOPMed
INHBA	P08476	p.Ile107Thr	rs1001765662	missense variant	-	NC_000007.14:g.41700055A>G	TOPMed
INHBA	P08476	p.Gly108Arg	rs551268437	missense variant	-	NC_000007.14:g.41700053C>T	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Ala111Glu	rs1339899817	missense variant	-	NC_000007.14:g.41700043G>T	gnomAD
INHBA	P08476	p.Met113Val	rs768954945	missense variant	-	NC_000007.14:g.41700038T>C	ExAC,gnomAD
INHBA	P08476	p.Leu116Phe	rs780538034	missense variant	-	NC_000007.14:g.41700029G>A	ExAC,gnomAD
INHBA	P08476	p.Met117Thr	rs777383877	missense variant	-	NC_000007.14:g.41700025A>G	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Met117Val	rs746480596	missense variant	-	NC_000007.14:g.41700026T>C	ExAC
INHBA	P08476	p.Gln119Glu	rs747778899	missense variant	-	NC_000007.14:g.41700020G>C	ExAC,gnomAD
INHBA	P08476	p.Thr120Ile	rs778711643	missense variant	-	NC_000007.14:g.41700016G>A	ExAC,gnomAD
INHBA	P08476	p.Glu128Gln	rs1261026870	missense variant	-	NC_000007.14:g.41699993C>G	gnomAD
INHBA	P08476	p.Thr131Ile	rs764280388	missense variant	-	NC_000007.14:g.41690539G>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala132Asp	rs1369747479	missense variant	-	NC_000007.14:g.41690536G>T	TOPMed,gnomAD
INHBA	P08476	p.Arg133Lys	rs763203259	missense variant	-	NC_000007.14:g.41690533C>T	ExAC,gnomAD
INHBA	P08476	p.Lys134Glu	rs765588441	missense variant	-	NC_000007.14:g.41690531T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Thr135Met	rs142519810	missense variant	-	NC_000007.14:g.41690527G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu139Ala	rs139371691	missense variant	-	NC_000007.14:g.41690515T>G	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu143Ala	rs1221555253	missense variant	-	NC_000007.14:g.41690503T>G	TOPMed
INHBA	P08476	p.Asp146Asn	rs979257752	missense variant	-	NC_000007.14:g.41690495C>T	gnomAD
INHBA	P08476	p.Arg152His	rs377167564	missense variant	-	NC_000007.14:g.41690476C>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg152Cys	rs748897120	missense variant	-	NC_000007.14:g.41690477G>A	ExAC,gnomAD
INHBA	P08476	p.Arg152Leu	rs377167564	missense variant	-	NC_000007.14:g.41690476C>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Leu159Val	rs769570431	missense variant	-	NC_000007.14:g.41690456G>C	ExAC,gnomAD
INHBA	P08476	p.Val161Phe	rs1354806996	missense variant	-	NC_000007.14:g.41690450C>A	gnomAD
INHBA	P08476	p.Pro162Leu	rs1397640362	missense variant	-	NC_000007.14:g.41690446G>A	gnomAD
INHBA	P08476	p.Ala164Thr	rs373733975	missense variant	-	NC_000007.14:g.41690441C>T	ESP,ExAC,gnomAD
INHBA	P08476	p.Arg166Ser	rs1374218408	missense variant	-	NC_000007.14:g.41690433C>A	TOPMed,gnomAD
INHBA	P08476	p.Arg166Trp	rs781179854	missense variant	-	NC_000007.14:g.41690435T>A	ExAC,gnomAD
INHBA	P08476	p.Lys170Ile	rs777791358	missense variant	-	NC_000007.14:g.41690422T>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Lys170Thr	rs777791358	missense variant	-	NC_000007.14:g.41690422T>G	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Val171Ile	rs1434057860	missense variant	-	NC_000007.14:g.41690420C>T	gnomAD
INHBA	P08476	p.Arg174His	rs537531066	missense variant	-	NC_000007.14:g.41690410C>T	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg174Cys	rs758496316	missense variant	-	NC_000007.14:g.41690411G>A	ExAC,gnomAD
INHBA	P08476	p.Arg174Leu	rs537531066	missense variant	-	NC_000007.14:g.41690410C>A	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Phe176Ile	rs1182490702	missense variant	-	NC_000007.14:g.41690405A>T	gnomAD
INHBA	P08476	p.Gln178Arg	rs759930790	missense variant	-	NC_000007.14:g.41690398T>C	ExAC,gnomAD
INHBA	P08476	p.Gln179His	rs761221455	missense variant	-	NC_000007.14:g.41690394C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gln179Pro	rs766876018	missense variant	-	NC_000007.14:g.41690395T>G	ExAC,gnomAD
INHBA	P08476	p.Pro182Gln	rs766987359	missense variant	-	NC_000007.14:g.41690386G>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro182Ala	rs773874254	missense variant	-	NC_000007.14:g.41690387G>C	ExAC,gnomAD
INHBA	P08476	p.Pro182Arg	rs766987359	missense variant	-	NC_000007.14:g.41690386G>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly184Ser	rs769393297	missense variant	-	NC_000007.14:g.41690381C>T	ExAC,gnomAD
INHBA	P08476	p.Ser185Thr	rs868188277	missense variant	-	NC_000007.14:g.41690377C>G	gnomAD
INHBA	P08476	p.Ser185Asn	rs868188277	missense variant	-	NC_000007.14:g.41690377C>T	gnomAD
INHBA	P08476	p.Asp187His	rs1380653684	missense variant	-	NC_000007.14:g.41690372C>G	TOPMed,gnomAD
INHBA	P08476	p.Gly189Arg	rs1025790050	missense variant	-	NC_000007.14:g.41690366C>T	TOPMed,gnomAD
INHBA	P08476	p.Glu190Lys	rs867739441	missense variant	-	NC_000007.14:g.41690363C>T	-
INHBA	P08476	p.Glu191Asp	rs138705117	missense variant	-	NC_000007.14:g.41690358C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala192Ser	rs780890864	missense variant	-	NC_000007.14:g.41690357C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala192Thr	rs780890864	missense variant	-	NC_000007.14:g.41690357C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu193Lys	rs1007889051	missense variant	-	NC_000007.14:g.41690354C>T	TOPMed,gnomAD
INHBA	P08476	p.Glu194Gln	rs1165688714	missense variant	-	NC_000007.14:g.41690351C>G	gnomAD
INHBA	P08476	p.Glu194Lys	rs1165688714	missense variant	-	NC_000007.14:g.41690351C>T	gnomAD
INHBA	P08476	p.Val195Glu	rs746900962	missense variant	-	NC_000007.14:g.41690347A>T	ExAC
INHBA	P08476	p.Gly196Ser	rs1425813756	missense variant	-	NC_000007.14:g.41690345C>T	gnomAD
INHBA	P08476	p.Gly196Asp	rs200425294	missense variant	-	NC_000007.14:g.41690344C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Lys198Met	rs1345043414	missense variant	-	NC_000007.14:g.41690338T>A	TOPMed
INHBA	P08476	p.Gly199Arg	rs146325702	missense variant	-	NC_000007.14:g.41690336C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Glu	rs111379520	missense variant	-	NC_000007.14:g.41690335C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Trp	rs146325702	missense variant	-	NC_000007.14:g.41690336C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Arg	rs146325702	missense variant	-	NC_000007.14:g.41690336C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Ala	rs111379520	missense variant	-	NC_000007.14:g.41690335C>G	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu200Lys	rs1379000367	missense variant	-	NC_000007.14:g.41690333C>T	gnomAD
INHBA	P08476	p.Arg201Lys	rs1214870637	missense variant	-	NC_000007.14:g.41690329C>T	gnomAD
INHBA	P08476	p.Leu204Arg	rs376470270	missense variant	-	NC_000007.14:g.41690320A>C	ESP
INHBA	P08476	p.Leu206Val	rs1266432565	missense variant	-	NC_000007.14:g.41690315G>C	gnomAD
INHBA	P08476	p.del209TerSerTrpArgSerValGlyAlaHisArgValAlaGlnPro	rs1221757242	stop gained	-	NC_000007.14:g.41690306_41690307insGGGCTGGGCAACTCTATGAGCACCCACACTCCTCCACGATCA	gnomAD
INHBA	P08476	p.Val210Leu	rs1309932151	missense variant	-	NC_000007.14:g.41690303C>A	gnomAD
INHBA	P08476	p.Val211Ile	rs1309408013	missense variant	-	NC_000007.14:g.41690300C>T	gnomAD
INHBA	P08476	p.Asp212Glu	rs149369067	missense variant	-	NC_000007.14:g.41690295G>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala213Thr	rs762543780	missense variant	-	NC_000007.14:g.41690294C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala213Ser	rs762543780	missense variant	-	NC_000007.14:g.41690294C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg214Trp	rs923669088	missense variant	-	NC_000007.14:g.41690291G>A	-
INHBA	P08476	p.Arg214Gln	rs1043609570	missense variant	-	NC_000007.14:g.41690290C>T	gnomAD
INHBA	P08476	p.Thr217Ser	rs759072574	missense variant	-	NC_000007.14:g.41690281G>C	ExAC,gnomAD
INHBA	P08476	p.Phe221Leu	rs776370904	missense variant	-	NC_000007.14:g.41690268G>C	ExAC,gnomAD
INHBA	P08476	p.Pro222Ser	rs770655825	missense variant	-	NC_000007.14:g.41690267G>A	ExAC,gnomAD
INHBA	P08476	p.Arg229Pro	rs138819536	missense variant	-	NC_000007.14:g.41690245C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg229Gln	rs138819536	missense variant	-	NC_000007.14:g.41690245C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg229Trp	rs908163566	missense variant	-	NC_000007.14:g.41690246G>A	TOPMed
INHBA	P08476	p.Leu230Met	rs1489240461	missense variant	-	NC_000007.14:g.41690243A>T	gnomAD
INHBA	P08476	p.Leu231Met	rs748226962	missense variant	-	NC_000007.14:g.41690240G>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gln233Glu	rs980571220	missense variant	-	NC_000007.14:g.41690234G>C	TOPMed,gnomAD
INHBA	P08476	p.Ser236Gly	rs778816816	missense variant	-	NC_000007.14:g.41690225T>C	ExAC,gnomAD
INHBA	P08476	p.Val240Phe	rs1229001644	missense variant	-	NC_000007.14:g.41690213C>A	TOPMed
INHBA	P08476	p.Val240Ile	rs1229001644	missense variant	-	NC_000007.14:g.41690213C>T	TOPMed
INHBA	P08476	p.Arg241Gln	rs756546726	missense variant	-	NC_000007.14:g.41690209C>T	ExAC,gnomAD
INHBA	P08476	p.Arg241Trp	rs150182559	missense variant	-	NC_000007.14:g.41690210G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu245Lys	rs1365746909	missense variant	-	NC_000007.14:g.41690198C>T	TOPMed,gnomAD
INHBA	P08476	p.Glu245Gln	rs1365746909	missense variant	-	NC_000007.14:g.41690198C>G	TOPMed,gnomAD
INHBA	P08476	p.Gln246His	rs757882910	missense variant	-	NC_000007.14:g.41690193C>G	ExAC,gnomAD
INHBA	P08476	p.Gln248Arg	rs752140467	missense variant	-	NC_000007.14:g.41690188T>C	ExAC,gnomAD
INHBA	P08476	p.Ser250Asn	rs764604932	missense variant	-	NC_000007.14:g.41690182C>T	ExAC,gnomAD
INHBA	P08476	p.Gly251Cys	rs1168655188	missense variant	-	NC_000007.14:g.41690180C>A	gnomAD
INHBA	P08476	p.Ala252Ser	rs1378762087	missense variant	-	NC_000007.14:g.41690177C>A	gnomAD
INHBA	P08476	p.Ala252Asp	rs1290822028	missense variant	-	NC_000007.14:g.41690176G>T	TOPMed
INHBA	P08476	p.Val255Phe	rs1163090037	missense variant	-	NC_000007.14:g.41690168C>A	gnomAD
INHBA	P08476	p.Leu257Pro	rs1192011470	missense variant	-	NC_000007.14:g.41690161A>G	TOPMed
INHBA	P08476	p.Gly258Asp	rs1431859332	missense variant	-	NC_000007.14:g.41690158C>T	TOPMed,gnomAD
INHBA	P08476	p.Gly258Val	rs1431859332	missense variant	-	NC_000007.14:g.41690158C>A	TOPMed,gnomAD
INHBA	P08476	p.Gly258Ser	rs1178685586	missense variant	-	NC_000007.14:g.41690159C>T	gnomAD
INHBA	P08476	p.Lys259Glu	rs1450176512	missense variant	-	NC_000007.14:g.41690156T>C	TOPMed
INHBA	P08476	p.Glu265Lys	rs1371913954	missense variant	-	NC_000007.14:g.41690138C>T	TOPMed
INHBA	P08476	p.Glu265Gly	rs1192544869	missense variant	-	NC_000007.14:g.41690137T>C	gnomAD
INHBA	P08476	p.Gly267Arg	rs760441012	missense variant	-	NC_000007.14:g.41690132C>T	ExAC,gnomAD
INHBA	P08476	p.Gly267Ala	rs1193620503	missense variant	-	NC_000007.14:g.41690131C>G	gnomAD
INHBA	P08476	p.Gly269Glu	rs779220866	missense variant	-	NC_000007.14:g.41690125C>T	TOPMed,gnomAD
INHBA	P08476	p.Gly269Val	rs779220866	missense variant	-	NC_000007.14:g.41690125C>A	TOPMed,gnomAD
INHBA	P08476	p.Lys271Arg	rs771884298	missense variant	-	NC_000007.14:g.41690119T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Lys272Arg	rs1390115330	missense variant	-	NC_000007.14:g.41690116T>C	TOPMed
INHBA	P08476	p.Gly273Ser	rs1435204559	missense variant	-	NC_000007.14:g.41690114C>T	TOPMed
INHBA	P08476	p.Gly274Arg	rs768547360	missense variant	-	NC_000007.14:g.41690111C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly274Glu	rs569482596	missense variant	-	NC_000007.14:g.41690110C>T	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly275Ser	rs780414158	missense variant	-	NC_000007.14:g.41690108C>T	ExAC,gnomAD
INHBA	P08476	p.Glu276Lys	rs1355421314	missense variant	-	NC_000007.14:g.41690105C>T	TOPMed
INHBA	P08476	p.Gly277Ser	rs1390964419	missense variant	-	NC_000007.14:g.41690102C>T	gnomAD
INHBA	P08476	p.Gly278Glu	rs1191953816	missense variant	-	NC_000007.14:g.41690098C>T	gnomAD
INHBA	P08476	p.Ala279Val	rs1211988783	missense variant	-	NC_000007.14:g.41690095G>A	TOPMed
INHBA	P08476	p.Gly280Arg	rs951492435	missense variant	-	NC_000007.14:g.41690093C>T	TOPMed,gnomAD
INHBA	P08476	p.Gly280Glu	VAR_072640	Missense	-	-	UniProt
INHBA	P08476	p.Asp282Asn	rs1208258694	missense variant	-	NC_000007.14:g.41690087C>T	TOPMed
INHBA	P08476	p.Glu283Gln	rs1305050306	missense variant	-	NC_000007.14:g.41690084C>G	gnomAD
INHBA	P08476	p.Glu284Lys	rs1488698571	missense variant	-	NC_000007.14:g.41690081C>T	gnomAD
INHBA	P08476	p.Gln287Glu	rs1464988141	missense variant	-	NC_000007.14:g.41690072G>C	gnomAD
INHBA	P08476	p.Pro291Ser	rs1159649174	missense variant	-	NC_000007.14:g.41690060G>A	gnomAD
INHBA	P08476	p.Met294Thr	rs1381819254	missense variant	-	NC_000007.14:g.41690050A>G	gnomAD
INHBA	P08476	p.Arg298Trp	rs373613637	missense variant	-	NC_000007.14:g.41690039G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg306Cys	rs564878978	missense variant	-	NC_000007.14:g.41690015G>A	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Arg306Gly	rs564878978	missense variant	-	NC_000007.14:g.41690015G>C	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Arg306His	rs1202073030	missense variant	-	NC_000007.14:g.41690014C>T	gnomAD
INHBA	P08476	p.Arg306Pro	rs1202073030	missense variant	-	NC_000007.14:g.41690014C>G	gnomAD
INHBA	P08476	p.Arg306Ser	rs564878978	missense variant	-	NC_000007.14:g.41690015G>T	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Gly311Arg	rs35168740	missense variant	-	NC_000007.14:g.41690000C>G	TOPMed
INHBA	P08476	p.Gly311Ser	rs35168740	missense variant	-	NC_000007.14:g.41690000C>T	TOPMed
INHBA	P08476	p.Val318Ile	rs772872634	missense variant	-	NC_000007.14:g.41689979C>T	ExAC,gnomAD
INHBA	P08476	p.Ile320Val	rs962913455	missense variant	-	NC_000007.14:g.41689973T>C	TOPMed,gnomAD
INHBA	P08476	p.Phe326Leu	rs1356119994	missense variant	-	NC_000007.14:g.41689953G>T	TOPMed,gnomAD
INHBA	P08476	p.Gly334Ser	rs138538132	missense variant	-	NC_000007.14:g.41689931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly334Cys	rs138538132	missense variant	-	NC_000007.14:g.41689931C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Asn336Asp	rs768700046	missense variant	-	NC_000007.14:g.41689925T>C	ExAC,gnomAD
INHBA	P08476	p.Asn336Lys	rs762923659	missense variant	-	NC_000007.14:g.41689923A>T	ExAC,gnomAD
INHBA	P08476	p.Ile339Val	rs775755149	missense variant	-	NC_000007.14:g.41689916T>C	ExAC,gnomAD
INHBA	P08476	p.Ser343Cys	rs1238388233	missense variant	-	NC_000007.14:g.41689903G>C	TOPMed
INHBA	P08476	p.Tyr345Cys	rs1156386837	missense variant	-	NC_000007.14:g.41689897T>C	gnomAD
INHBA	P08476	p.Asn348Ser	rs771134702	missense variant	-	NC_000007.14:g.41689888T>C	ExAC,gnomAD
INHBA	P08476	p.Cys350Trp	RCV000709850	missense variant	-	NC_000007.14:g.41689881G>C	ClinVar
INHBA	P08476	p.Pro355Arg	rs747474916	missense variant	-	NC_000007.14:g.41689867G>C	ExAC,gnomAD
INHBA	P08476	p.Pro355Leu	rs747474916	missense variant	-	NC_000007.14:g.41689867G>A	ExAC,gnomAD
INHBA	P08476	p.Ser364Thr	rs753232360	missense variant	-	NC_000007.14:g.41689841A>T	ExAC,gnomAD
INHBA	P08476	p.Thr371Ile	rs1357347047	missense variant	-	NC_000007.14:g.41689819G>A	gnomAD
INHBA	P08476	p.Tyr376His	rs751423099	missense variant	-	NC_000007.14:g.41689805A>G	ExAC,gnomAD
INHBA	P08476	p.His381Arg	rs1361746138	missense variant	-	NC_000007.14:g.41689789T>C	gnomAD
INHBA	P08476	p.Ser382Arg	rs376722349	missense variant	-	NC_000007.14:g.41689785G>C	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro383Thr	rs1318105737	missense variant	-	NC_000007.14:g.41689784G>T	gnomAD
INHBA	P08476	p.Pro383Leu	rs1157959739	missense variant	-	NC_000007.14:g.41689783G>A	TOPMed
INHBA	P08476	p.Asn386Lys	rs1399739221	missense variant	-	NC_000007.14:g.41689773G>T	gnomAD
INHBA	P08476	p.Asn386Ser	rs1361491625	missense variant	-	NC_000007.14:g.41689774T>C	TOPMed
INHBA	P08476	p.Lys388Arg	rs759695534	missense variant	-	NC_000007.14:g.41689768T>C	ExAC,gnomAD
INHBA	P08476	p.Lys395Arg	rs771243659	missense variant	-	NC_000007.14:g.41689747T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro398Ser	rs747304324	missense variant	-	NC_000007.14:g.41689739G>A	ExAC,gnomAD
INHBA	P08476	p.Asp406Ala	rs1374850253	missense variant	-	NC_000007.14:g.41689714T>G	TOPMed
INHBA	P08476	p.Gly407Ser	rs772344962	missense variant	-	NC_000007.14:g.41689712C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly407Cys	rs772344962	missense variant	-	NC_000007.14:g.41689712C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Asp414Tyr	rs779393124	missense variant	-	NC_000007.14:g.41689691C>A	ExAC,gnomAD
INHBA	P08476	p.Val420Met	rs749989847	missense variant	-	NC_000007.14:g.41689673C>T	ExAC,gnomAD
INHBA	P08476	p.Trp5Cys	rs1366906380	missense variant	-	NC_000007.14:g.41700360C>A	gnomAD
INHBA	P08476	p.Gly8Glu	rs1164410355	missense variant	-	NC_000007.14:g.41700352C>T	gnomAD
INHBA	P08476	p.Gly8Arg	rs1156510703	missense variant	-	NC_000007.14:g.41700353C>T	TOPMed
INHBA	P08476	p.Phe9Leu	rs1429366494	missense variant	-	NC_000007.14:g.41700348A>C	gnomAD
INHBA	P08476	p.Ala12Ser	rs1488241309	missense variant	-	NC_000007.14:g.41700341C>A	gnomAD
INHBA	P08476	p.Cys14Ser	rs149209111	missense variant	-	NC_000007.14:g.41700335A>T	ESP,TOPMed
INHBA	P08476	p.Cys14Tyr	rs777959895	missense variant	-	NC_000007.14:g.41700334C>T	ExAC,gnomAD
INHBA	P08476	p.Cys14Phe	rs777959895	missense variant	-	NC_000007.14:g.41700334C>A	ExAC,gnomAD
INHBA	P08476	p.Trp15Cys	rs933197708	missense variant	-	NC_000007.14:g.41700330C>A	TOPMed
INHBA	P08476	p.Ile16Thr	rs758814874	missense variant	-	NC_000007.14:g.41700328A>G	ExAC,gnomAD
INHBA	P08476	p.Pro24Leu	rs765780968	missense variant	-	NC_000007.14:g.41700304G>A	ExAC,gnomAD
INHBA	P08476	p.Pro24Ala	rs1444327391	missense variant	-	NC_000007.14:g.41700305G>C	TOPMed
INHBA	P08476	p.Ser26Phe	rs755619740	missense variant	-	NC_000007.14:g.41700298G>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu27Gln	rs1372354341	missense variant	-	NC_000007.14:g.41700296C>G	TOPMed
INHBA	P08476	p.Gly28Glu	rs972161023	missense variant	-	NC_000007.14:g.41700292C>T	gnomAD
INHBA	P08476	p.His29Tyr	rs534590694	missense variant	-	NC_000007.14:g.41700290G>A	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.His29Asp	rs534590694	missense variant	-	NC_000007.14:g.41700290G>C	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Ser30Arg	rs942081109	missense variant	-	NC_000007.14:g.41700285G>T	-
INHBA	P08476	p.Ala31Pro	rs1283898685	missense variant	-	NC_000007.14:g.41700284C>G	gnomAD
INHBA	P08476	p.Ala31Val	rs761497837	missense variant	-	NC_000007.14:g.41700283G>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala32Thr	rs376838491	missense variant	-	NC_000007.14:g.41700281C>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala32Gly	rs1488136875	missense variant	-	NC_000007.14:g.41700280G>C	gnomAD
INHBA	P08476	p.Pro33Thr	rs762816927	missense variant	-	NC_000007.14:g.41700278G>T	ExAC,gnomAD
INHBA	P08476	p.Asp34Asn	rs1261664857	missense variant	-	NC_000007.14:g.41700275C>T	gnomAD
INHBA	P08476	p.Pro36Arg	rs201591674	missense variant	-	NC_000007.14:g.41700268G>C	ExAC,gnomAD
INHBA	P08476	p.Ala39Glu	rs373520349	missense variant	-	NC_000007.14:g.41700259G>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Leu40Pro	rs1232597234	missense variant	-	NC_000007.14:g.41700256A>G	TOPMed
INHBA	P08476	p.Leu40Val	rs771248041	missense variant	-	NC_000007.14:g.41700257G>C	ExAC,gnomAD
INHBA	P08476	p.Ala41Val	rs373322295	missense variant	-	NC_000007.14:g.41700253G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala41Thr	rs984438766	missense variant	-	NC_000007.14:g.41700254C>T	TOPMed,gnomAD
INHBA	P08476	p.Ala41Gly	rs373322295	missense variant	-	NC_000007.14:g.41700253G>C	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala42Ser	rs376794102	missense variant	-	NC_000007.14:g.41700251C>A	ExAC,gnomAD
INHBA	P08476	p.Ala42Thr	rs376794102	missense variant	-	NC_000007.14:g.41700251C>T	ExAC,gnomAD
INHBA	P08476	p.Lys45Arg	rs953665038	missense variant	-	NC_000007.14:g.41700241T>C	TOPMed,gnomAD
INHBA	P08476	p.Pro48Leu	rs1316814689	missense variant	-	NC_000007.14:g.41700232G>A	TOPMed,gnomAD
INHBA	P08476	p.Pro48His	rs1316814689	missense variant	-	NC_000007.14:g.41700232G>T	TOPMed,gnomAD
INHBA	P08476	p.Asn49Ser	rs1235277612	missense variant	-	NC_000007.14:g.41700229T>C	gnomAD
INHBA	P08476	p.Ser50Tyr	rs779271157	missense variant	-	NC_000007.14:g.41700226G>T	ExAC,gnomAD
INHBA	P08476	p.Ser50Cys	rs779271157	missense variant	-	NC_000007.14:g.41700226G>C	ExAC,gnomAD
INHBA	P08476	p.Met54Ile	rs1030538647	missense variant	-	NC_000007.14:g.41700213C>A	TOPMed
INHBA	P08476	p.Val58Leu	rs1329616704	missense variant	-	NC_000007.14:g.41700203C>G	gnomAD
INHBA	P08476	p.His61Tyr	rs749899848	missense variant	-	NC_000007.14:g.41700194G>A	ExAC,gnomAD
INHBA	P08476	p.Arg71Ser	rs1441973969	missense variant	-	NC_000007.14:g.41700162T>G	gnomAD
INHBA	P08476	p.Pro72His	rs751118764	missense variant	-	NC_000007.14:g.41700160G>T	ExAC,gnomAD
INHBA	P08476	p.Asp73Asn	rs762653354	missense variant	-	NC_000007.14:g.41700158C>T	ExAC,gnomAD
INHBA	P08476	p.Thr75Ile	rs182017908	missense variant	-	NC_000007.14:g.41700151G>A	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Thr75Ser	rs182017908	missense variant	-	NC_000007.14:g.41700151G>C	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Thr75Pro	rs752596382	missense variant	-	NC_000007.14:g.41700152T>G	ExAC,gnomAD
INHBA	P08476	p.Gln76Ter	rs776731486	stop gained	-	NC_000007.14:g.41700149G>A	ExAC
INHBA	P08476	p.Val78Ile	rs771076354	missense variant	-	NC_000007.14:g.41700143C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro79Ser	rs760840635	missense variant	-	NC_000007.14:g.41700140G>A	ExAC,gnomAD
INHBA	P08476	p.Lys80Thr	rs1339554915	missense variant	-	NC_000007.14:g.41700136T>G	gnomAD
INHBA	P08476	p.Ala82Thr	rs1446232934	missense variant	-	NC_000007.14:g.41700131C>T	gnomAD
INHBA	P08476	p.Leu83Val	rs748436551	missense variant	-	NC_000007.14:g.41700128G>C	ExAC,gnomAD
INHBA	P08476	p.Asn85Ser	rs779371975	missense variant	-	NC_000007.14:g.41700121T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala86Val	rs749750926	missense variant	-	NC_000007.14:g.41700118G>A	ExAC,gnomAD
INHBA	P08476	p.Ile87Met	rs756693243	missense variant	-	NC_000007.14:g.41700114G>C	ExAC,gnomAD
INHBA	P08476	p.His91Arg	rs777279223	missense variant	-	NC_000007.14:g.41700103T>C	ExAC,gnomAD
INHBA	P08476	p.Val95Ile	rs752403730	missense variant	-	NC_000007.14:g.41700092C>T	ExAC,gnomAD
INHBA	P08476	p.Glu97Gln	rs540086083	missense variant	-	NC_000007.14:g.41700086C>G	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Asn98Lys	rs149702280	missense variant	-	NC_000007.14:g.41700081G>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Tyr100Asn	rs773386945	missense variant	-	NC_000007.14:g.41700077A>T	ExAC,gnomAD
INHBA	P08476	p.Asp105Tyr	rs1476143414	missense variant	-	NC_000007.14:g.41700062C>A	TOPMed
INHBA	P08476	p.Ile107Thr	rs1001765662	missense variant	-	NC_000007.14:g.41700055A>G	TOPMed
INHBA	P08476	p.Ile107Ser	rs1001765662	missense variant	-	NC_000007.14:g.41700055A>C	TOPMed
INHBA	P08476	p.Gly108Arg	rs551268437	missense variant	-	NC_000007.14:g.41700053C>T	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Ala111Glu	rs1339899817	missense variant	-	NC_000007.14:g.41700043G>T	gnomAD
INHBA	P08476	p.Met113Val	rs768954945	missense variant	-	NC_000007.14:g.41700038T>C	ExAC,gnomAD
INHBA	P08476	p.Leu116Phe	rs780538034	missense variant	-	NC_000007.14:g.41700029G>A	ExAC,gnomAD
INHBA	P08476	p.Met117Val	rs746480596	missense variant	-	NC_000007.14:g.41700026T>C	ExAC
INHBA	P08476	p.Met117Thr	rs777383877	missense variant	-	NC_000007.14:g.41700025A>G	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gln119Glu	rs747778899	missense variant	-	NC_000007.14:g.41700020G>C	ExAC,gnomAD
INHBA	P08476	p.Thr120Ile	rs778711643	missense variant	-	NC_000007.14:g.41700016G>A	ExAC,gnomAD
INHBA	P08476	p.Glu128Gln	rs1261026870	missense variant	-	NC_000007.14:g.41699993C>G	gnomAD
INHBA	P08476	p.Thr131Ile	rs764280388	missense variant	-	NC_000007.14:g.41690539G>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala132Asp	rs1369747479	missense variant	-	NC_000007.14:g.41690536G>T	TOPMed,gnomAD
INHBA	P08476	p.Arg133Lys	rs763203259	missense variant	-	NC_000007.14:g.41690533C>T	ExAC,gnomAD
INHBA	P08476	p.Lys134Glu	rs765588441	missense variant	-	NC_000007.14:g.41690531T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Thr135Met	rs142519810	missense variant	-	NC_000007.14:g.41690527G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu139Ala	rs139371691	missense variant	-	NC_000007.14:g.41690515T>G	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu143Ala	rs1221555253	missense variant	-	NC_000007.14:g.41690503T>G	TOPMed
INHBA	P08476	p.Asp146Asn	rs979257752	missense variant	-	NC_000007.14:g.41690495C>T	gnomAD
INHBA	P08476	p.Arg152Cys	rs748897120	missense variant	-	NC_000007.14:g.41690477G>A	ExAC,gnomAD
INHBA	P08476	p.Arg152His	rs377167564	missense variant	-	NC_000007.14:g.41690476C>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg152Leu	rs377167564	missense variant	-	NC_000007.14:g.41690476C>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Leu159Val	rs769570431	missense variant	-	NC_000007.14:g.41690456G>C	ExAC,gnomAD
INHBA	P08476	p.Val161Phe	rs1354806996	missense variant	-	NC_000007.14:g.41690450C>A	gnomAD
INHBA	P08476	p.Pro162Leu	rs1397640362	missense variant	-	NC_000007.14:g.41690446G>A	gnomAD
INHBA	P08476	p.Ala164Thr	rs373733975	missense variant	-	NC_000007.14:g.41690441C>T	ESP,ExAC,gnomAD
INHBA	P08476	p.Arg166Trp	rs781179854	missense variant	-	NC_000007.14:g.41690435T>A	ExAC,gnomAD
INHBA	P08476	p.Arg166Ser	rs1374218408	missense variant	-	NC_000007.14:g.41690433C>A	TOPMed,gnomAD
INHBA	P08476	p.Lys170Ile	rs777791358	missense variant	-	NC_000007.14:g.41690422T>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Lys170Thr	rs777791358	missense variant	-	NC_000007.14:g.41690422T>G	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Val171Ile	rs1434057860	missense variant	-	NC_000007.14:g.41690420C>T	gnomAD
INHBA	P08476	p.Arg174Leu	rs537531066	missense variant	-	NC_000007.14:g.41690410C>A	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg174Cys	rs758496316	missense variant	-	NC_000007.14:g.41690411G>A	ExAC,gnomAD
INHBA	P08476	p.Arg174His	rs537531066	missense variant	-	NC_000007.14:g.41690410C>T	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Phe176Ile	rs1182490702	missense variant	-	NC_000007.14:g.41690405A>T	gnomAD
INHBA	P08476	p.Gln178Arg	rs759930790	missense variant	-	NC_000007.14:g.41690398T>C	ExAC,gnomAD
INHBA	P08476	p.Gln179His	rs761221455	missense variant	-	NC_000007.14:g.41690394C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gln179Pro	rs766876018	missense variant	-	NC_000007.14:g.41690395T>G	ExAC,gnomAD
INHBA	P08476	p.Pro182Arg	rs766987359	missense variant	-	NC_000007.14:g.41690386G>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro182Ala	rs773874254	missense variant	-	NC_000007.14:g.41690387G>C	ExAC,gnomAD
INHBA	P08476	p.Pro182Gln	rs766987359	missense variant	-	NC_000007.14:g.41690386G>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly184Ser	rs769393297	missense variant	-	NC_000007.14:g.41690381C>T	ExAC,gnomAD
INHBA	P08476	p.Ser185Asn	rs868188277	missense variant	-	NC_000007.14:g.41690377C>T	gnomAD
INHBA	P08476	p.Ser185Thr	rs868188277	missense variant	-	NC_000007.14:g.41690377C>G	gnomAD
INHBA	P08476	p.Asp187His	rs1380653684	missense variant	-	NC_000007.14:g.41690372C>G	TOPMed,gnomAD
INHBA	P08476	p.Gly189Arg	rs1025790050	missense variant	-	NC_000007.14:g.41690366C>T	TOPMed,gnomAD
INHBA	P08476	p.Glu190Lys	rs867739441	missense variant	-	NC_000007.14:g.41690363C>T	-
INHBA	P08476	p.Glu191Asp	rs138705117	missense variant	-	NC_000007.14:g.41690358C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala192Thr	rs780890864	missense variant	-	NC_000007.14:g.41690357C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala192Ser	rs780890864	missense variant	-	NC_000007.14:g.41690357C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu193Lys	rs1007889051	missense variant	-	NC_000007.14:g.41690354C>T	TOPMed,gnomAD
INHBA	P08476	p.Glu194Lys	rs1165688714	missense variant	-	NC_000007.14:g.41690351C>T	gnomAD
INHBA	P08476	p.Glu194Gln	rs1165688714	missense variant	-	NC_000007.14:g.41690351C>G	gnomAD
INHBA	P08476	p.Val195Glu	rs746900962	missense variant	-	NC_000007.14:g.41690347A>T	ExAC
INHBA	P08476	p.Gly196Ser	rs1425813756	missense variant	-	NC_000007.14:g.41690345C>T	gnomAD
INHBA	P08476	p.Gly196Asp	rs200425294	missense variant	-	NC_000007.14:g.41690344C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Lys198Met	rs1345043414	missense variant	-	NC_000007.14:g.41690338T>A	TOPMed
INHBA	P08476	p.Gly199Ala	rs111379520	missense variant	-	NC_000007.14:g.41690335C>G	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Trp	rs146325702	missense variant	-	NC_000007.14:g.41690336C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Arg	rs146325702	missense variant	-	NC_000007.14:g.41690336C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Glu	rs111379520	missense variant	-	NC_000007.14:g.41690335C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly199Arg	rs146325702	missense variant	-	NC_000007.14:g.41690336C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu200Lys	rs1379000367	missense variant	-	NC_000007.14:g.41690333C>T	gnomAD
INHBA	P08476	p.Arg201Lys	rs1214870637	missense variant	-	NC_000007.14:g.41690329C>T	gnomAD
INHBA	P08476	p.Leu204Arg	rs376470270	missense variant	-	NC_000007.14:g.41690320A>C	ESP
INHBA	P08476	p.Leu206Val	rs1266432565	missense variant	-	NC_000007.14:g.41690315G>C	gnomAD
INHBA	P08476	p.del209TerSerTrpArgSerValGlyAlaHisArgValAlaGlnPro	rs1221757242	stop gained	-	NC_000007.14:g.41690306_41690307insGGGCTGGGCAACTCTATGAGCACCCACACTCCTCCACGATCA	gnomAD
INHBA	P08476	p.Val210Leu	rs1309932151	missense variant	-	NC_000007.14:g.41690303C>A	gnomAD
INHBA	P08476	p.Val211Ile	rs1309408013	missense variant	-	NC_000007.14:g.41690300C>T	gnomAD
INHBA	P08476	p.Asp212Glu	rs149369067	missense variant	-	NC_000007.14:g.41690295G>T	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala213Ser	rs762543780	missense variant	-	NC_000007.14:g.41690294C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Ala213Thr	rs762543780	missense variant	-	NC_000007.14:g.41690294C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg214Gln	rs1043609570	missense variant	-	NC_000007.14:g.41690290C>T	gnomAD
INHBA	P08476	p.Arg214Trp	rs923669088	missense variant	-	NC_000007.14:g.41690291G>A	-
INHBA	P08476	p.Thr217Ser	rs759072574	missense variant	-	NC_000007.14:g.41690281G>C	ExAC,gnomAD
INHBA	P08476	p.Phe221Leu	rs776370904	missense variant	-	NC_000007.14:g.41690268G>C	ExAC,gnomAD
INHBA	P08476	p.Pro222Ser	rs770655825	missense variant	-	NC_000007.14:g.41690267G>A	ExAC,gnomAD
INHBA	P08476	p.Arg229Pro	rs138819536	missense variant	-	NC_000007.14:g.41690245C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg229Gln	rs138819536	missense variant	-	NC_000007.14:g.41690245C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg229Trp	rs908163566	missense variant	-	NC_000007.14:g.41690246G>A	TOPMed
INHBA	P08476	p.Leu230Met	rs1489240461	missense variant	-	NC_000007.14:g.41690243A>T	gnomAD
INHBA	P08476	p.Leu231Met	rs748226962	missense variant	-	NC_000007.14:g.41690240G>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gln233Glu	rs980571220	missense variant	-	NC_000007.14:g.41690234G>C	TOPMed,gnomAD
INHBA	P08476	p.Ser236Gly	rs778816816	missense variant	-	NC_000007.14:g.41690225T>C	ExAC,gnomAD
INHBA	P08476	p.Val240Phe	rs1229001644	missense variant	-	NC_000007.14:g.41690213C>A	TOPMed
INHBA	P08476	p.Val240Ile	rs1229001644	missense variant	-	NC_000007.14:g.41690213C>T	TOPMed
INHBA	P08476	p.Arg241Gln	rs756546726	missense variant	-	NC_000007.14:g.41690209C>T	ExAC,gnomAD
INHBA	P08476	p.Arg241Trp	rs150182559	missense variant	-	NC_000007.14:g.41690210G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Glu245Lys	rs1365746909	missense variant	-	NC_000007.14:g.41690198C>T	TOPMed,gnomAD
INHBA	P08476	p.Glu245Gln	rs1365746909	missense variant	-	NC_000007.14:g.41690198C>G	TOPMed,gnomAD
INHBA	P08476	p.Gln246His	rs757882910	missense variant	-	NC_000007.14:g.41690193C>G	ExAC,gnomAD
INHBA	P08476	p.Gln248Arg	rs752140467	missense variant	-	NC_000007.14:g.41690188T>C	ExAC,gnomAD
INHBA	P08476	p.Ser250Asn	rs764604932	missense variant	-	NC_000007.14:g.41690182C>T	ExAC,gnomAD
INHBA	P08476	p.Gly251Cys	rs1168655188	missense variant	-	NC_000007.14:g.41690180C>A	gnomAD
INHBA	P08476	p.Ala252Asp	rs1290822028	missense variant	-	NC_000007.14:g.41690176G>T	TOPMed
INHBA	P08476	p.Ala252Ser	rs1378762087	missense variant	-	NC_000007.14:g.41690177C>A	gnomAD
INHBA	P08476	p.Val255Phe	rs1163090037	missense variant	-	NC_000007.14:g.41690168C>A	gnomAD
INHBA	P08476	p.Leu257Pro	rs1192011470	missense variant	-	NC_000007.14:g.41690161A>G	TOPMed
INHBA	P08476	p.Gly258Ser	rs1178685586	missense variant	-	NC_000007.14:g.41690159C>T	gnomAD
INHBA	P08476	p.Gly258Asp	rs1431859332	missense variant	-	NC_000007.14:g.41690158C>T	TOPMed,gnomAD
INHBA	P08476	p.Gly258Val	rs1431859332	missense variant	-	NC_000007.14:g.41690158C>A	TOPMed,gnomAD
INHBA	P08476	p.Lys259Glu	rs1450176512	missense variant	-	NC_000007.14:g.41690156T>C	TOPMed
INHBA	P08476	p.Glu265Gly	rs1192544869	missense variant	-	NC_000007.14:g.41690137T>C	gnomAD
INHBA	P08476	p.Glu265Lys	rs1371913954	missense variant	-	NC_000007.14:g.41690138C>T	TOPMed
INHBA	P08476	p.Gly267Ala	rs1193620503	missense variant	-	NC_000007.14:g.41690131C>G	gnomAD
INHBA	P08476	p.Gly267Arg	rs760441012	missense variant	-	NC_000007.14:g.41690132C>T	ExAC,gnomAD
INHBA	P08476	p.Gly269Val	rs779220866	missense variant	-	NC_000007.14:g.41690125C>A	TOPMed,gnomAD
INHBA	P08476	p.Gly269Glu	rs779220866	missense variant	-	NC_000007.14:g.41690125C>T	TOPMed,gnomAD
INHBA	P08476	p.Lys271Arg	rs771884298	missense variant	-	NC_000007.14:g.41690119T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Lys272Arg	rs1390115330	missense variant	-	NC_000007.14:g.41690116T>C	TOPMed
INHBA	P08476	p.Gly273Ser	rs1435204559	missense variant	-	NC_000007.14:g.41690114C>T	TOPMed
INHBA	P08476	p.Gly274Arg	rs768547360	missense variant	-	NC_000007.14:g.41690111C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly274Glu	rs569482596	missense variant	-	NC_000007.14:g.41690110C>T	1000Genomes,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly275Ser	rs780414158	missense variant	-	NC_000007.14:g.41690108C>T	ExAC,gnomAD
INHBA	P08476	p.Glu276Lys	rs1355421314	missense variant	-	NC_000007.14:g.41690105C>T	TOPMed
INHBA	P08476	p.Gly277Ser	rs1390964419	missense variant	-	NC_000007.14:g.41690102C>T	gnomAD
INHBA	P08476	p.Gly278Glu	rs1191953816	missense variant	-	NC_000007.14:g.41690098C>T	gnomAD
INHBA	P08476	p.Ala279Val	rs1211988783	missense variant	-	NC_000007.14:g.41690095G>A	TOPMed
INHBA	P08476	p.Gly280Arg	rs951492435	missense variant	-	NC_000007.14:g.41690093C>T	TOPMed,gnomAD
INHBA	P08476	p.Gly280Glu	VAR_072640	Missense	-	-	UniProt
INHBA	P08476	p.Asp282Asn	rs1208258694	missense variant	-	NC_000007.14:g.41690087C>T	TOPMed
INHBA	P08476	p.Glu283Gln	rs1305050306	missense variant	-	NC_000007.14:g.41690084C>G	gnomAD
INHBA	P08476	p.Glu284Lys	rs1488698571	missense variant	-	NC_000007.14:g.41690081C>T	gnomAD
INHBA	P08476	p.Gln287Glu	rs1464988141	missense variant	-	NC_000007.14:g.41690072G>C	gnomAD
INHBA	P08476	p.Pro291Ser	rs1159649174	missense variant	-	NC_000007.14:g.41690060G>A	gnomAD
INHBA	P08476	p.Met294Thr	rs1381819254	missense variant	-	NC_000007.14:g.41690050A>G	gnomAD
INHBA	P08476	p.Arg298Trp	rs373613637	missense variant	-	NC_000007.14:g.41690039G>A	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Arg306Ser	rs564878978	missense variant	-	NC_000007.14:g.41690015G>T	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Arg306His	rs1202073030	missense variant	-	NC_000007.14:g.41690014C>T	gnomAD
INHBA	P08476	p.Arg306Gly	rs564878978	missense variant	-	NC_000007.14:g.41690015G>C	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Arg306Cys	rs564878978	missense variant	-	NC_000007.14:g.41690015G>A	1000Genomes,ExAC,gnomAD
INHBA	P08476	p.Arg306Pro	rs1202073030	missense variant	-	NC_000007.14:g.41690014C>G	gnomAD
INHBA	P08476	p.Gly311Arg	rs35168740	missense variant	-	NC_000007.14:g.41690000C>G	TOPMed
INHBA	P08476	p.Gly311Ser	rs35168740	missense variant	-	NC_000007.14:g.41690000C>T	TOPMed
INHBA	P08476	p.Val318Ile	rs772872634	missense variant	-	NC_000007.14:g.41689979C>T	ExAC,gnomAD
INHBA	P08476	p.Ile320Val	rs962913455	missense variant	-	NC_000007.14:g.41689973T>C	TOPMed,gnomAD
INHBA	P08476	p.Phe326Leu	rs1356119994	missense variant	-	NC_000007.14:g.41689953G>T	TOPMed,gnomAD
INHBA	P08476	p.Gly334Cys	rs138538132	missense variant	-	NC_000007.14:g.41689931C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly334Ser	rs138538132	missense variant	-	NC_000007.14:g.41689931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Asn336Lys	rs762923659	missense variant	-	NC_000007.14:g.41689923A>T	ExAC,gnomAD
INHBA	P08476	p.Asn336Asp	rs768700046	missense variant	-	NC_000007.14:g.41689925T>C	ExAC,gnomAD
INHBA	P08476	p.Ile339Val	rs775755149	missense variant	-	NC_000007.14:g.41689916T>C	ExAC,gnomAD
INHBA	P08476	p.Ser343Cys	rs1238388233	missense variant	-	NC_000007.14:g.41689903G>C	TOPMed
INHBA	P08476	p.Tyr345Cys	rs1156386837	missense variant	-	NC_000007.14:g.41689897T>C	gnomAD
INHBA	P08476	p.Asn348Ser	rs771134702	missense variant	-	NC_000007.14:g.41689888T>C	ExAC,gnomAD
INHBA	P08476	p.Cys350Trp	RCV000709850	missense variant	-	NC_000007.14:g.41689881G>C	ClinVar
INHBA	P08476	p.Pro355Arg	rs747474916	missense variant	-	NC_000007.14:g.41689867G>C	ExAC,gnomAD
INHBA	P08476	p.Pro355Leu	rs747474916	missense variant	-	NC_000007.14:g.41689867G>A	ExAC,gnomAD
INHBA	P08476	p.Ser364Thr	rs753232360	missense variant	-	NC_000007.14:g.41689841A>T	ExAC,gnomAD
INHBA	P08476	p.Thr371Ile	rs1357347047	missense variant	-	NC_000007.14:g.41689819G>A	gnomAD
INHBA	P08476	p.Tyr376His	rs751423099	missense variant	-	NC_000007.14:g.41689805A>G	ExAC,gnomAD
INHBA	P08476	p.His381Arg	rs1361746138	missense variant	-	NC_000007.14:g.41689789T>C	gnomAD
INHBA	P08476	p.Ser382Arg	rs376722349	missense variant	-	NC_000007.14:g.41689785G>C	ESP,ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro383Thr	rs1318105737	missense variant	-	NC_000007.14:g.41689784G>T	gnomAD
INHBA	P08476	p.Pro383Leu	rs1157959739	missense variant	-	NC_000007.14:g.41689783G>A	TOPMed
INHBA	P08476	p.Asn386Ser	rs1361491625	missense variant	-	NC_000007.14:g.41689774T>C	TOPMed
INHBA	P08476	p.Asn386Lys	rs1399739221	missense variant	-	NC_000007.14:g.41689773G>T	gnomAD
INHBA	P08476	p.Lys388Arg	rs759695534	missense variant	-	NC_000007.14:g.41689768T>C	ExAC,gnomAD
INHBA	P08476	p.Lys395Arg	rs771243659	missense variant	-	NC_000007.14:g.41689747T>C	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Pro398Ser	rs747304324	missense variant	-	NC_000007.14:g.41689739G>A	ExAC,gnomAD
INHBA	P08476	p.Asp406Ala	rs1374850253	missense variant	-	NC_000007.14:g.41689714T>G	TOPMed
INHBA	P08476	p.Gly407Ser	rs772344962	missense variant	-	NC_000007.14:g.41689712C>T	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Gly407Cys	rs772344962	missense variant	-	NC_000007.14:g.41689712C>A	ExAC,TOPMed,gnomAD
INHBA	P08476	p.Asp414Tyr	rs779393124	missense variant	-	NC_000007.14:g.41689691C>A	ExAC,gnomAD
INHBA	P08476	p.Val420Met	rs749989847	missense variant	-	NC_000007.14:g.41689673C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly2Arg	rs752976373	missense variant	-	NC_000013.11:g.110307907G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly2Arg	rs752976373	missense variant	-	NC_000013.11:g.110307907G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly2Glu	COSM3688612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110307908G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Arg3Lys	COSM3793122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110307911G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp4Val	rs1459593367	missense variant	-	NC_000013.11:g.110307914A>T	gnomAD
COL4A2	P08572	p.Asp4Asn	rs376455394	missense variant	-	NC_000013.11:g.110307913G>A	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Asp4Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110307914A>C	NCI-TCGA
COL4A2	P08572	p.Gln5Arg	rs771611881	missense variant	-	NC_000013.11:g.110307917A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln5Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110307916C>A	NCI-TCGA
COL4A2	P08572	p.Arg6Ser	rs779582946	missense variant	-	NC_000013.11:g.110307919C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg6His	rs1189428009	missense variant	-	NC_000013.11:g.110307920G>A	gnomAD
COL4A2	P08572	p.Arg6Leu	rs1189428009	missense variant	-	NC_000013.11:g.110307920G>T	gnomAD
COL4A2	P08572	p.Ala7Val	rs369679874	missense variant	-	NC_000013.11:g.110307923C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala7Ser	rs746474992	missense variant	-	NC_000013.11:g.110307922G>T	ExAC,gnomAD
COL4A2	P08572	p.Ala9Val	rs1394404007	missense variant	-	NC_000013.11:g.110307929C>T	TOPMed
COL4A2	P08572	p.Ala9Thr	rs1414359914	missense variant	-	NC_000013.11:g.110307928G>A	TOPMed,gnomAD
COL4A2	P08572	p.Pro11His	COSM6138550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110307935C>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Leu13Val	rs773108336	missense variant	-	NC_000013.11:g.110307940C>G	ExAC,gnomAD
COL4A2	P08572	p.Leu13Gln	rs374140752	missense variant	-	NC_000013.11:g.110307941T>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu13Arg	rs374140752	missense variant	-	NC_000013.11:g.110307941T>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg14Trp	rs1317141175	missense variant	-	NC_000013.11:g.110307943C>T	gnomAD
COL4A2	P08572	p.Arg14Pro	rs1324354794	missense variant	-	NC_000013.11:g.110307944G>C	gnomAD
COL4A2	P08572	p.Arg14Gln	rs1324354794	missense variant	-	NC_000013.11:g.110307944G>A	gnomAD
COL4A2	P08572	p.Arg15Gln	rs766265598	missense variant	-	NC_000013.11:g.110307947G>A	ExAC,gnomAD
COL4A2	P08572	p.Trp16Cys	rs1334037199	missense variant	-	NC_000013.11:g.110308072G>T	gnomAD
COL4A2	P08572	p.Trp16Ter	rs1334037199	stop gained	-	NC_000013.11:g.110308072G>A	gnomAD
COL4A2	P08572	p.Leu17Met	rs200430407	missense variant	-	NC_000013.11:g.110308073C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu17Val	rs200430407	missense variant	-	NC_000013.11:g.110308073C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu19Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110308079C>A	NCI-TCGA
COL4A2	P08572	p.Gly20Glu	rs1276497593	missense variant	-	NC_000013.11:g.110308083G>A	TOPMed,gnomAD
COL4A2	P08572	p.Thr23Ala	rs1043009281	missense variant	-	NC_000013.11:g.110308091A>G	TOPMed
COL4A2	P08572	p.Gly25Trp	rs745779326	missense variant	-	NC_000013.11:g.110308097G>T	ExAC,gnomAD
COL4A2	P08572	p.Ala28Thr	rs1338618226	missense variant	-	NC_000013.11:g.110308106G>A	gnomAD
COL4A2	P08572	p.Ser30Arg	rs775319592	missense variant	-	NC_000013.11:g.110308114C>G	ExAC,gnomAD
COL4A2	P08572	p.Ser30Asn	rs367984136	missense variant	-	NC_000013.11:g.110308113G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser30Thr	rs367984136	missense variant	-	NC_000013.11:g.110308113G>C	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val31Ala	rs760739260	missense variant	-	NC_000013.11:g.110308116T>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu32Ter	rs1170159832	stop gained	-	NC_000013.11:g.110308119T>A	gnomAD
COL4A2	P08572	p.Gly34Val	rs1038667228	missense variant	-	NC_000013.11:g.110357473G>T	gnomAD
COL4A2	P08572	p.Gly34Ser	rs745622067	missense variant	-	NC_000013.11:g.110357472G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly34Asp	rs1038667228	missense variant	-	NC_000013.11:g.110357473G>A	gnomAD
COL4A2	P08572	p.Asp39Val	rs1342108057	missense variant	-	NC_000013.11:g.110357488A>T	TOPMed,gnomAD
COL4A2	P08572	p.Asp39Ala	rs1342108057	missense variant	-	NC_000013.11:g.110357488A>C	TOPMed,gnomAD
COL4A2	P08572	p.Pro41Ser	rs540581830	missense variant	-	NC_000013.11:g.110357493C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro41Leu	rs933086493	missense variant	-	NC_000013.11:g.110357494C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro41Ala	rs540581830	missense variant	-	NC_000013.11:g.110357493C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly44Arg	rs1210091787	missense variant	-	NC_000013.11:g.110357502G>A	gnomAD
COL4A2	P08572	p.Gly44Glu	rs1260883965	missense variant	-	NC_000013.11:g.110357503G>A	TOPMed,gnomAD
COL4A2	P08572	p.Gly44Ter	COSM945356	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110357502G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Ser48Asn	rs1053256164	missense variant	-	NC_000013.11:g.110357515G>A	TOPMed,gnomAD
COL4A2	P08572	p.Ser48Ile	rs1053256164	missense variant	-	NC_000013.11:g.110357515G>T	TOPMed,gnomAD
COL4A2	P08572	p.Gly49Glu	rs776901298	missense variant	-	NC_000013.11:g.110357518G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly49Arg	rs1203070183	missense variant	-	NC_000013.11:g.110357517G>A	gnomAD
COL4A2	P08572	p.Gln52Pro	rs762006517	missense variant	-	NC_000013.11:g.110357527A>C	ExAC,gnomAD
COL4A2	P08572	p.Cys53Tyr	rs1189244987	missense variant	-	NC_000013.11:g.110357530G>A	gnomAD
COL4A2	P08572	p.Pro55Leu	rs1011806709	missense variant	-	NC_000013.11:g.110357536C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro55Thr	rs372234966	missense variant	-	NC_000013.11:g.110357535C>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly58Arg	rs1345921487	missense variant	-	NC_000013.11:g.110357544G>C	gnomAD
COL4A2	P08572	p.Arg60Gly	rs773576081	missense variant	-	NC_000013.11:g.110357550C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg60Cys	rs773576081	missense variant	-	NC_000013.11:g.110357550C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg60Ser	rs773576081	missense variant	-	NC_000013.11:g.110357550C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg60His	rs763322641	missense variant	-	NC_000013.11:g.110357551G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly61Ala	rs1465330837	missense variant	-	NC_000013.11:g.110424735G>C	TOPMed
COL4A2	P08572	p.Pro63His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110424741C>A	NCI-TCGA
COL4A2	P08572	p.Pro65Gln	rs376916470	missense variant	-	NC_000013.11:g.110424747C>A	ESP,ExAC,gnomAD
COL4A2	P08572	p.Pro65Leu	rs376916470	missense variant	-	NC_000013.11:g.110424747C>T	ESP,ExAC,gnomAD
COL4A2	P08572	p.Val66Leu	rs775980504	missense variant	-	NC_000013.11:g.110424749G>T	ExAC,gnomAD
COL4A2	P08572	p.Gln69Ter	rs1175562839	stop gained	-	NC_000013.11:g.110424758C>T	gnomAD
COL4A2	P08572	p.Gln69Glu	rs1175562839	missense variant	-	NC_000013.11:g.110424758C>G	gnomAD
COL4A2	P08572	p.Gln69ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110424754C>-	NCI-TCGA
COL4A2	P08572	p.Tyr71Ter	rs1255059662	stop gained	-	NC_000013.11:g.110424766C>A	gnomAD
COL4A2	P08572	p.Gly73Val	rs1478186039	missense variant	-	NC_000013.11:g.110424771G>T	TOPMed
COL4A2	P08572	p.Pro75Leu	rs761254454	missense variant	-	NC_000013.11:g.110424777C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro81Leu	rs750061237	missense variant	-	NC_000013.11:g.110424795C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro81Gln	COSM696008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424795C>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly82Arg	COSM3399229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424797G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Leu83Met	rs1353893351	missense variant	-	NC_000013.11:g.110424800C>A	gnomAD
COL4A2	P08572	p.Leu83Pro	rs766078584	missense variant	-	NC_000013.11:g.110424801T>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly85Arg	rs1294757187	missense variant	-	NC_000013.11:g.110424806G>A	gnomAD
COL4A2	P08572	p.Arg86His	rs751272301	missense variant	-	NC_000013.11:g.110424810G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys87Arg	COSM4045958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424813A>G	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly88Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110424816G>A	NCI-TCGA
COL4A2	P08572	p.Asp89Gly	rs1300867171	missense variant	-	NC_000013.11:g.110424819A>G	gnomAD
COL4A2	P08572	p.Asp89Asn	COSM6138549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424818G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly91Ser	COSM3872845	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424824G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Arg93Lys	rs1369172496	missense variant	-	NC_000013.11:g.110424831G>A	gnomAD
COL4A2	P08572	p.Ala95Asp	rs754829210	missense variant	-	NC_000013.11:g.110424837C>A	ExAC,gnomAD
COL4A2	P08572	p.Ala95Val	rs754829210	missense variant	-	NC_000013.11:g.110424837C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro96Arg	rs748157227	missense variant	-	NC_000013.11:g.110424840C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro96Leu	rs748157227	missense variant	-	NC_000013.11:g.110424840C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly97Arg	rs531542947	missense variant	-	NC_000013.11:g.110424842G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly97Glu	rs749501904	missense variant	-	NC_000013.11:g.110424843G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly97Glu	RCV000623549	missense variant	Inborn genetic diseases	NC_000013.11:g.110424843G>A	ClinVar
COL4A2	P08572	p.Gly100Ter	rs1251400296	stop gained	-	NC_000013.11:g.110424851G>T	gnomAD
COL4A2	P08572	p.Gly100Val	rs1476249623	missense variant	-	NC_000013.11:g.110424852G>T	gnomAD
COL4A2	P08572	p.Pro101His	rs774660355	missense variant	-	NC_000013.11:g.110424855C>A	ExAC,gnomAD
COL4A2	P08572	p.Lys102Arg	rs1302254625	missense variant	-	NC_000013.11:g.110424858A>G	gnomAD
COL4A2	P08572	p.Lys102Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110424859G>T	NCI-TCGA
COL4A2	P08572	p.Asp104Asn	rs376081023	missense variant	-	NC_000013.11:g.110424863G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val105Met	rs772439696	missense variant	-	NC_000013.11:g.110424866G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val105Met	RCV000784946	missense variant	Porencephaly 2 (BSVD2)	NC_000013.11:g.110424866G>A	ClinVar
COL4A2	P08572	p.Ala107Val	rs932645606	missense variant	-	NC_000013.11:g.110424957C>T	TOPMed,gnomAD
COL4A2	P08572	p.Ala107Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110424956G>A	NCI-TCGA
COL4A2	P08572	p.Arg108Thr	rs1283852136	missense variant	-	NC_000013.11:g.110424960G>C	TOPMed,gnomAD
COL4A2	P08572	p.Val110Ile	rs537746077	missense variant	-	NC_000013.11:g.110424965G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser111Ala	rs769112358	missense variant	-	NC_000013.11:g.110424968T>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Phe113Leu	rs1258066947	missense variant	-	NC_000013.11:g.110424974T>C	gnomAD
COL4A2	P08572	p.Pro114Leu	rs1485297823	missense variant	-	NC_000013.11:g.110424978C>T	gnomAD
COL4A2	P08572	p.Ala116Val	rs777200276	missense variant	-	NC_000013.11:g.110424984C>T	ExAC,gnomAD
COL4A2	P08572	p.Asp117Asn	rs374976511	missense variant	-	NC_000013.11:g.110424986G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp117Glu	rs1470242849	missense variant	-	NC_000013.11:g.110424988T>A	gnomAD
COL4A2	P08572	p.Asp117His	rs374976511	missense variant	-	NC_000013.11:g.110424986G>C	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro120Leu	rs773874575	missense variant	-	NC_000013.11:g.110424996C>T	ExAC,gnomAD
COL4A2	P08572	p.His122Tyr	rs1368191320	missense variant	-	NC_000013.11:g.110428470C>T	TOPMed
COL4A2	P08572	p.Pro123Leu	rs770319113	missense variant	-	NC_000013.11:g.110428474C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly126Cys	rs774055891	missense variant	-	NC_000013.11:g.110428482G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly127Arg	rs759136489	missense variant	-	NC_000013.11:g.110428485G>A	ExAC,gnomAD
COL4A2	P08572	p.Pro128Arg	rs372136410	missense variant	-	NC_000013.11:g.110428489C>G	ESP,ExAC,gnomAD
COL4A2	P08572	p.Pro128Ser	rs975120661	missense variant	-	NC_000013.11:g.110428488C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro128Ser	RCV000521004	missense variant	-	NC_000013.11:g.110428488C>T	ClinVar
COL4A2	P08572	p.Arg129Gly	rs376759822	missense variant	-	NC_000013.11:g.110428491A>G	1000Genomes,ESP,TOPMed,gnomAD
COL4A2	P08572	p.Gly130Arg	rs760487331	missense variant	-	NC_000013.11:g.110428494G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly130Glu	COSM3467212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110428495G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Arg131Met	rs764008176	missense variant	-	NC_000013.11:g.110428498G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg131Gly	rs916020834	missense variant	-	NC_000013.11:g.110428497A>G	TOPMed
COL4A2	P08572	p.Pro132Arg	rs199561972	missense variant	-	NC_000013.11:g.110428501C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro132Leu	RCV000386592	missense variant	Porencephalic cyst	NC_000013.11:g.110428501C>T	ClinVar
COL4A2	P08572	p.Pro132Leu	rs199561972	missense variant	-	NC_000013.11:g.110428501C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly133Val	rs199551935	missense variant	-	NC_000013.11:g.110428504G>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly133Asp	rs199551935	missense variant	-	NC_000013.11:g.110428504G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp135Asn	rs369865437	missense variant	-	NC_000013.11:g.110428509G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp135Asn	RCV000658252	missense variant	-	NC_000013.11:g.110428509G>A	ClinVar
COL4A2	P08572	p.Cys137Tyr	rs1454056357	missense variant	-	NC_000013.11:g.110428516G>A	TOPMed,gnomAD
COL4A2	P08572	p.Gly139Glu	rs748583996	missense variant	-	NC_000013.11:g.110428522G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly139Arg	RCV000294716	missense variant	Porencephalic cyst	NC_000013.11:g.110428521G>A	ClinVar
COL4A2	P08572	p.Gly139Arg	rs373792475	missense variant	-	NC_000013.11:g.110428521G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln141Arg	rs756592284	missense variant	-	NC_000013.11:g.110428528A>G	ExAC,gnomAD
COL4A2	P08572	p.Gln141Ter	rs1167888205	stop gained	-	NC_000013.11:g.110428527C>T	gnomAD
COL4A2	P08572	p.Gly142Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110428531G>A	NCI-TCGA
COL4A2	P08572	p.Gly148Arg	rs1302849404	missense variant	-	NC_000013.11:g.110428548G>A	TOPMed
COL4A2	P08572	p.Pro149Ala	rs548601003	missense variant	-	NC_000013.11:g.110428551C>G	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Gly151Ser	rs746743018	missense variant	-	NC_000013.11:g.110428557G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly151AlaPheSerTerUnkUnk	COSM1248854	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110428551C>-	NCI-TCGA Cosmic
COL4A2	P08572	p.Ser152Pro	rs1279465314	missense variant	-	NC_000013.11:g.110428560T>C	TOPMed
COL4A2	P08572	p.Gly154Glu	rs375700657	missense variant	-	NC_000013.11:g.110428567G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly154Val	rs375700657	missense variant	-	NC_000013.11:g.110428567G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Phe155Leu	rs1372828071	missense variant	-	NC_000013.11:g.110428569T>C	TOPMed
COL4A2	P08572	p.Gly157Glu	rs763008271	missense variant	-	NC_000013.11:g.110428576G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly157Arg	rs773147531	missense variant	-	NC_000013.11:g.110428575G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro158Ser	rs1487292526	missense variant	-	NC_000013.11:g.110428578C>T	gnomAD
COL4A2	P08572	p.Pro159Ser	rs766515564	missense variant	-	NC_000013.11:g.110428581C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro161Ser	rs756484014	missense variant	-	NC_000013.11:g.110429888C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly163Glu	COSM3467213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110429895G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro164Ala	rs764619902	missense variant	-	NC_000013.11:g.110429897C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro164Gln	rs755371182	missense variant	-	NC_000013.11:g.110429898C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro164Ser	COSM74222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110429897C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Gln167Arg	rs1212158888	missense variant	-	NC_000013.11:g.110429907A>G	gnomAD
COL4A2	P08572	p.Lys168Gln	rs1384966066	missense variant	-	NC_000013.11:g.110429909A>C	TOPMed
COL4A2	P08572	p.Pro171Leu	rs1347164251	missense variant	-	NC_000013.11:g.110429919C>T	TOPMed
COL4A2	P08572	p.Tyr172Ter	rs1482277442	stop gained	-	NC_000013.11:g.110429923T>A	gnomAD
COL4A2	P08572	p.Ala173Ser	rs757886951	missense variant	-	NC_000013.11:g.110429924G>T	ExAC,gnomAD
COL4A2	P08572	p.Ala173Thr	COSM945357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110429924G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Leu174Pro	rs779584979	missense variant	-	NC_000013.11:g.110429928T>C	ExAC,gnomAD
COL4A2	P08572	p.Leu174Val	rs1251407490	missense variant	-	NC_000013.11:g.110429927C>G	TOPMed,gnomAD
COL4A2	P08572	p.Pro175Thr	rs1177045158	missense variant	-	NC_000013.11:g.110429930C>A	TOPMed,gnomAD
COL4A2	P08572	p.Pro175Ser	rs1177045158	missense variant	-	NC_000013.11:g.110429930C>T	TOPMed,gnomAD
COL4A2	P08572	p.Arg179Cys	rs751015466	missense variant	-	NC_000013.11:g.110429942C>T	ExAC,gnomAD
COL4A2	P08572	p.Arg179His	rs1435128650	missense variant	-	NC_000013.11:g.110429943G>A	gnomAD
COL4A2	P08572	p.Asp180Asn	rs568655744	missense variant	-	NC_000013.11:g.110429945G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp180ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110429945G>-	NCI-TCGA
COL4A2	P08572	p.Tyr182Ter	rs535492357	stop gained	-	NC_000013.11:g.110429953T>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg183Gln	rs374251565	missense variant	-	NC_000013.11:g.110429955G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg183Pro	rs374251565	missense variant	-	NC_000013.11:g.110429955G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg183Trp	rs201457127	missense variant	-	NC_000013.11:g.110429954C>T	ESP,ExAC,gnomAD
COL4A2	P08572	p.Gly184Asp	rs1555328401	missense variant	-	NC_000013.11:g.110430402G>A	-
COL4A2	P08572	p.Gly184Asp	RCV000626813	missense variant	-	NC_000013.11:g.110430402G>A	ClinVar
COL4A2	P08572	p.Glu185Gly	rs1275221618	missense variant	-	NC_000013.11:g.110430405A>G	gnomAD
COL4A2	P08572	p.Pro186Leu	rs749012559	missense variant	-	NC_000013.11:g.110430408C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro186Ser	rs1450854200	missense variant	-	NC_000013.11:g.110430407C>T	TOPMed
COL4A2	P08572	p.Glu188Gln	rs770721562	missense variant	-	NC_000013.11:g.110430413G>C	ExAC,gnomAD
COL4A2	P08572	p.Glu188Gly	COSM4926830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110430414A>G	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly190Arg	rs1486755357	missense variant	-	NC_000013.11:g.110430419G>C	gnomAD
COL4A2	P08572	p.Val192Phe	rs62621885	missense variant	-	NC_000013.11:g.110430425G>T	UniProt,dbSNP
COL4A2	P08572	p.Val192Phe	VAR_067551	missense variant	-	NC_000013.11:g.110430425G>T	UniProt
COL4A2	P08572	p.Val192Phe	rs62621885	missense variant	-	NC_000013.11:g.110430425G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val192Phe	RCV000397389	missense variant	Porencephalic cyst	NC_000013.11:g.110430425G>T	ClinVar
COL4A2	P08572	p.Gly193Ser	rs775479003	missense variant	-	NC_000013.11:g.110430428G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln195Ter	COSM4501251	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110430434C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly196Arg	rs758220603	missense variant	-	NC_000013.11:g.110430545G>A	ExAC,gnomAD
COL4A2	P08572	p.Pro198Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110430551C>T	NCI-TCGA
COL4A2	P08572	p.Gly199Ser	rs750358950	missense variant	-	NC_000013.11:g.110430554G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg200Pro	rs748422794	missense variant	-	NC_000013.11:g.110430558G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg200His	rs748422794	missense variant	-	NC_000013.11:g.110430558G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg200Cys	rs1384344513	missense variant	-	NC_000013.11:g.110430557C>T	gnomAD
COL4A2	P08572	p.Gly202Trp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110430563G>T	NCI-TCGA
COL4A2	P08572	p.His203Asp	rs1201943787	missense variant	-	NC_000013.11:g.110430566C>G	TOPMed
COL4A2	P08572	p.His203Leu	rs201716258	missense variant	-	NC_000013.11:g.110430567A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.His203Arg	rs201716258	missense variant	-	NC_000013.11:g.110430567A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val204Met	rs959464417	missense variant	-	NC_000013.11:g.110430569G>A	TOPMed
COL4A2	P08572	p.Gly205Glu	rs1323447578	missense variant	-	NC_000013.11:g.110430573G>A	TOPMed
COL4A2	P08572	p.Gly205Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.110430572G>T	NCI-TCGA
COL4A2	P08572	p.Gln206Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.110430575C>T	NCI-TCGA
COL4A2	P08572	p.Met207Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110430579T>A	NCI-TCGA
COL4A2	P08572	p.Val210Ala	rs552174744	missense variant	-	NC_000013.11:g.110430588T>C	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Val210Gly	rs552174744	missense variant	-	NC_000013.11:g.110430588T>G	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Ala212Val	rs1035460729	missense variant	-	NC_000013.11:g.110430594C>T	TOPMed
COL4A2	P08572	p.Gly214Val	rs774849640	missense variant	-	NC_000013.11:g.110430600G>T	ExAC,gnomAD
COL4A2	P08572	p.Gly214Glu	COSM4395907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110430600G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Arg215Gly	rs1375779141	missense variant	-	NC_000013.11:g.110430602A>G	gnomAD
COL4A2	P08572	p.Pro216Ser	rs760161017	missense variant	-	NC_000013.11:g.110430605C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly217Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110432325G>A	NCI-TCGA
COL4A2	P08572	p.Pro219Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110432332C>T	NCI-TCGA
COL4A2	P08572	p.Pro221Leu	rs759411600	missense variant	-	NC_000013.11:g.110432338C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro221Thr	rs759102501	missense variant	-	NC_000013.11:g.110432337C>A	gnomAD
COL4A2	P08572	p.Pro221His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110432338C>A	NCI-TCGA
COL4A2	P08572	p.Pro222Ser	rs1311495152	missense variant	-	NC_000013.11:g.110432340C>T	gnomAD
COL4A2	P08572	p.Pro222His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110432341C>A	NCI-TCGA
COL4A2	P08572	p.Pro224Thr	rs1240828595	missense variant	-	NC_000013.11:g.110432346C>A	gnomAD
COL4A2	P08572	p.Gly226Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110432353G>A	NCI-TCGA
COL4A2	P08572	p.Gly229Asp	rs748782321	missense variant	-	NC_000013.11:g.110434402G>A	ExAC,gnomAD
COL4A2	P08572	p.Arg231Lys	rs774164150	missense variant	-	NC_000013.11:g.110434408G>A	ExAC,gnomAD
COL4A2	P08572	p.Phe235Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110434419T>G	NCI-TCGA
COL4A2	P08572	p.Tyr236His	rs767482731	missense variant	-	NC_000013.11:g.110434422T>C	ExAC,gnomAD
COL4A2	P08572	p.Gly237Arg	rs1294088315	missense variant	-	NC_000013.11:g.110434425G>A	TOPMed
COL4A2	P08572	p.Lys242Asn	rs1463099199	missense variant	-	NC_000013.11:g.110434442G>C	TOPMed,gnomAD
COL4A2	P08572	p.Asp244Glu	rs144319016	missense variant	-	NC_000013.11:g.110436274C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp244Asn	COSM3813397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110436272G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Val245Ile	rs371879428	missense variant	-	NC_000013.11:g.110436275G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val245Glu	rs746759612	missense variant	-	NC_000013.11:g.110436276T>A	ExAC,gnomAD
COL4A2	P08572	p.Val245Gly	rs746759612	missense variant	-	NC_000013.11:g.110436276T>G	ExAC,gnomAD
COL4A2	P08572	p.Val245Ile	rs371879428	missense variant	-	NC_000013.11:g.110436275G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A2	P08572	p.Gly246Glu	rs1464412235	missense variant	-	NC_000013.11:g.110436279G>A	TOPMed
COL4A2	P08572	p.Pro248Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110436284C>G	NCI-TCGA
COL4A2	P08572	p.Pro250Arg	rs867040906	missense variant	-	NC_000013.11:g.110436291C>G	gnomAD
COL4A2	P08572	p.Pro250Leu	rs867040906	missense variant	-	NC_000013.11:g.110436291C>T	gnomAD
COL4A2	P08572	p.Asn251Ser	rs201393883	missense variant	-	NC_000013.11:g.110436294A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly252Glu	COSM3467214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110436297G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro254Ser	rs1472258738	missense variant	-	NC_000013.11:g.110436302C>T	gnomAD
COL4A2	P08572	p.Asp256Tyr	COSM4848545	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110436308G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Thr257Asn	rs1383709300	missense variant	-	NC_000013.11:g.110436312C>A	TOPMed,gnomAD
COL4A2	P08572	p.Thr257Ile	rs1383709300	missense variant	-	NC_000013.11:g.110436312C>T	TOPMed,gnomAD
COL4A2	P08572	p.Thr257Ile	rs1383709300	missense variant	-	NC_000013.11:g.110436312C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro260Ser	rs1360473582	missense variant	-	NC_000013.11:g.110436320C>T	gnomAD
COL4A2	P08572	p.Ile261Met	rs369814411	missense variant	-	NC_000013.11:g.110436325C>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile261Val	rs1399513860	missense variant	-	NC_000013.11:g.110436323A>G	gnomAD
COL4A2	P08572	p.Ile262Ser	rs753229040	missense variant	-	NC_000013.11:g.110436327T>G	ExAC
COL4A2	P08572	p.Ala263Thr	rs756636787	missense variant	-	NC_000013.11:g.110436329G>A	ExAC,gnomAD
COL4A2	P08572	p.Ala263Val	rs1447552664	missense variant	-	NC_000013.11:g.110436330C>T	gnomAD
COL4A2	P08572	p.Gly266Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110436339G>T	NCI-TCGA
COL4A2	P08572	p.His270Arg	rs1308326584	missense variant	-	NC_000013.11:g.110436351A>G	gnomAD
COL4A2	P08572	p.Pro271Leu	rs1351380678	missense variant	-	NC_000013.11:g.110436354C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro271Ser	COSM1243172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110436353C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp272His	rs1351153049	missense variant	-	NC_000013.11:g.110436356G>C	TOPMed
COL4A2	P08572	p.Asp272Glu	rs372108626	missense variant	-	NC_000013.11:g.110436358T>G	ESP,ExAC,gnomAD
COL4A2	P08572	p.Gln273Arg	rs746705508	missense variant	-	NC_000013.11:g.110436360A>G	ExAC,gnomAD
COL4A2	P08572	p.Gly276Val	rs372917662	missense variant	-	NC_000013.11:g.110438003G>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly276Asp	rs372917662	missense variant	-	NC_000013.11:g.110438003G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Glu277Lys	rs545624331	missense variant	-	NC_000013.11:g.110438005G>A	1000Genomes
COL4A2	P08572	p.Gly279Val	rs796211246	missense variant	-	NC_000013.11:g.110438012G>T	TOPMed
COL4A2	P08572	p.Ser280Gly	rs377155355	missense variant	-	NC_000013.11:g.110438014A>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile286Thr	rs774242622	missense variant	-	NC_000013.11:g.110438033T>C	ExAC,gnomAD
COL4A2	P08572	p.Arg287Thr	rs1425142080	missense variant	-	NC_000013.11:g.110438036G>C	TOPMed
COL4A2	P08572	p.Arg287Gly	rs1330424611	missense variant	-	NC_000013.11:g.110438035A>G	TOPMed,gnomAD
COL4A2	P08572	p.Gly288Ser	rs1305493217	missense variant	-	NC_000013.11:g.110438618G>A	gnomAD
COL4A2	P08572	p.Gly288Ala	rs201902859	missense variant	-	NC_000013.11:g.110438619G>C	1000Genomes,ExAC
COL4A2	P08572	p.Gly288Ser	rs1305493217	missense variant	-	NC_000013.11:g.110438618G>A	NCI-TCGA
COL4A2	P08572	p.Lys292Thr	COSM4930461	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110438631A>C	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly293Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110438633G>A	NCI-TCGA
COL4A2	P08572	p.Glu295Ter	rs1421971452	stop gained	-	NC_000013.11:g.110438639G>T	gnomAD
COL4A2	P08572	p.Met298Thr	rs1241024948	missense variant	-	NC_000013.11:g.110438649T>C	TOPMed
COL4A2	P08572	p.Met298Leu	COSM6138547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110438648A>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Met298Val	rs750364763	missense variant	-	NC_000013.11:g.110438648A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Met298Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110438649T>A	NCI-TCGA
COL4A2	P08572	p.Gly299Ser	rs926806738	missense variant	-	NC_000013.11:g.110438651G>A	TOPMed
COL4A2	P08572	p.Gly299Cys	rs926806738	missense variant	-	NC_000013.11:g.110438651G>T	TOPMed
COL4A2	P08572	p.Phe300Ile	rs1321669035	missense variant	-	NC_000013.11:g.110438654T>A	gnomAD
COL4A2	P08572	p.Phe300Leu	rs775358778	missense variant	-	NC_000013.11:g.110438656T>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Phe300Tyr	rs184596143	missense variant	-	NC_000013.11:g.110438655T>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Phe300Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110438655T>C	NCI-TCGA
COL4A2	P08572	p.Gly305Val	rs377088851	missense variant	-	NC_000013.11:g.110439790G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Tyr306His	rs1198676957	missense variant	-	NC_000013.11:g.110439792T>C	gnomAD
COL4A2	P08572	p.Gly308Cys	COSM696006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110439798G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Leu309PheLysAlaTerLysValMetTer	NCI-TCGA novel	stop gained	-	NC_000013.11:g.110439802_110439803insTAAGGCCTAGAAGGTCATGTA	NCI-TCGA
COL4A2	P08572	p.Ser310Arg	rs200875510	missense variant	-	NC_000013.11:g.110439806T>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser310Gly	rs777979754	missense variant	-	NC_000013.11:g.110439804A>G	ExAC,gnomAD
COL4A2	P08572	p.Gly311Asp	rs1193877088	missense variant	-	NC_000013.11:g.110439808G>A	TOPMed,gnomAD
COL4A2	P08572	p.Glu312Lys	rs988440716	missense variant	-	NC_000013.11:g.110439810G>A	TOPMed
COL4A2	P08572	p.Gly314Arg	rs757680081	missense variant	-	NC_000013.11:g.110439816G>C	ExAC,gnomAD
COL4A2	P08572	p.Pro316Gln	rs779390986	missense variant	-	NC_000013.11:g.110439823C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro316Ala	rs369491516	missense variant	-	NC_000013.11:g.110439822C>G	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Pro316Ser	rs369491516	missense variant	-	NC_000013.11:g.110439822C>T	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Pro316Arg	rs779390986	missense variant	-	NC_000013.11:g.110439823C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly317Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110439826G>T	NCI-TCGA
COL4A2	P08572	p.Gln318Leu	rs201690865	missense variant	-	NC_000013.11:g.110439829A>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln318Ter	rs768030086	stop gained	-	NC_000013.11:g.110439828C>T	ExAC,gnomAD
COL4A2	P08572	p.Gln318Ter	rs768030086	stop gained	-	NC_000013.11:g.110439828C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A2	P08572	p.Gln318Arg	rs201690865	missense variant	-	NC_000013.11:g.110439829A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys319Asn	rs747643584	missense variant	-	NC_000013.11:g.110439833G>C	ExAC,gnomAD
COL4A2	P08572	p.Arg322Ter	rs1237717942	stop gained	-	NC_000013.11:g.110445835C>T	gnomAD
COL4A2	P08572	p.Arg322Gln	rs201640075	missense variant	-	NC_000013.11:g.110445836G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu324Pro	rs1181529044	missense variant	-	NC_000013.11:g.110445842T>C	TOPMed
COL4A2	P08572	p.Asp325Asn	rs759250966	missense variant	-	NC_000013.11:g.110445844G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly329Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110445857G>C	NCI-TCGA
COL4A2	P08572	p.Pro330Ala	rs1256447856	missense variant	-	NC_000013.11:g.110445859C>G	TOPMed
COL4A2	P08572	p.Asp331Gly	rs886049971	missense variant	-	NC_000013.11:g.110445863A>G	-
COL4A2	P08572	p.Asp331Gly	RCV000331421	missense variant	Porencephalic cyst	NC_000013.11:g.110445863A>G	ClinVar
COL4A2	P08572	p.Asp331His	COSM4856002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110445862G>C	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp331Glu	rs760806699	missense variant	-	NC_000013.11:g.110445864T>G	ExAC,gnomAD
COL4A2	P08572	p.Gly332Arg	rs1178438876	missense variant	-	NC_000013.11:g.110445865G>A	gnomAD
COL4A2	P08572	p.Pro333Leu	rs1452238828	missense variant	-	NC_000013.11:g.110445869C>T	gnomAD
COL4A2	P08572	p.Pro333Thr	rs764202499	missense variant	-	NC_000013.11:g.110445868C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg334Gly	rs547964880	missense variant	-	NC_000013.11:g.110445871C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg334Gln	rs201833952	missense variant	-	NC_000013.11:g.110445872G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg334Trp	rs547964880	missense variant	-	NC_000013.11:g.110445871C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys337Met	rs1355055637	missense variant	-	NC_000013.11:g.110445881A>T	TOPMed
COL4A2	P08572	p.Lys337Glu	rs750733715	missense variant	-	NC_000013.11:g.110445880A>G	ExAC,gnomAD
COL4A2	P08572	p.Glu339Lys	rs751975195	missense variant	-	NC_000013.11:g.110446801G>A	ExAC,gnomAD
COL4A2	P08572	p.Glu339Ala	rs755498922	missense variant	-	NC_000013.11:g.110446802A>C	ExAC,gnomAD
COL4A2	P08572	p.Glu339Asp	rs369700024	missense variant	-	NC_000013.11:g.110446803A>C	ESP,ExAC,gnomAD
COL4A2	P08572	p.Gly341Arg	rs1475888052	missense variant	-	NC_000013.11:g.110446807G>A	gnomAD
COL4A2	P08572	p.Asp342His	rs756889937	missense variant	-	NC_000013.11:g.110446810G>C	ExAC,gnomAD
COL4A2	P08572	p.Pro343Ser	rs951552197	missense variant	-	NC_000013.11:g.110446813C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro345Ser	rs778627200	missense variant	-	NC_000013.11:g.110446819C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro345Thr	rs778627200	missense variant	-	NC_000013.11:g.110446819C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro346Arg	rs1402584778	missense variant	-	NC_000013.11:g.110446823C>G	TOPMed,gnomAD
COL4A2	P08572	p.Gly347Ter	COSM696003	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110446825G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly347Ala	COSM696001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110446826G>C	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro349His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110446832C>A	NCI-TCGA
COL4A2	P08572	p.Ala350Thr	rs983174616	missense variant	-	NC_000013.11:g.110446834G>A	TOPMed
COL4A2	P08572	p.Ala350Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110446835C>T	NCI-TCGA
COL4A2	P08572	p.Ala358Glu	rs1265517785	missense variant	-	NC_000013.11:g.110446859C>A	gnomAD
COL4A2	P08572	p.Lys359Glu	rs761876101	missense variant	-	NC_000013.11:g.110446861A>G	ExAC,gnomAD
COL4A2	P08572	p.Gly360ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110446860A>-	NCI-TCGA
COL4A2	P08572	p.Arg362Ser	rs1453003886	missense variant	-	NC_000013.11:g.110449686A>C	gnomAD
COL4A2	P08572	p.Asp364Tyr	rs1337787954	missense variant	-	NC_000013.11:g.110449690G>T	gnomAD
COL4A2	P08572	p.Pro365Leu	rs746749693	missense variant	-	NC_000013.11:g.110449694C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro365Leu	RCV000259618	missense variant	Porencephalic cyst	NC_000013.11:g.110449694C>T	ClinVar
COL4A2	P08572	p.Pro368Thr	rs1238393722	missense variant	-	NC_000013.11:g.110449702C>A	gnomAD
COL4A2	P08572	p.Pro368Leu	rs1259075777	missense variant	-	NC_000013.11:g.110449703C>T	gnomAD
COL4A2	P08572	p.Ala370Pro	rs909040713	missense variant	-	NC_000013.11:g.110449708G>C	TOPMed,gnomAD
COL4A2	P08572	p.Glu373Gly	rs1459840322	missense variant	-	NC_000013.11:g.110449718A>G	gnomAD
COL4A2	P08572	p.Glu379Lys	rs1178832851	missense variant	-	NC_000013.11:g.110449735G>A	gnomAD
COL4A2	P08572	p.Glu379Gly	rs1251131549	missense variant	-	NC_000013.11:g.110449736A>G	gnomAD
COL4A2	P08572	p.Pro383Leu	rs536453426	missense variant	-	NC_000013.11:g.110449748C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro383Ser	rs1179039757	missense variant	-	NC_000013.11:g.110449747C>T	gnomAD
COL4A2	P08572	p.Pro388Ser	rs933951989	missense variant	-	NC_000013.11:g.110449762C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro388Thr	rs933951989	missense variant	-	NC_000013.11:g.110449762C>A	TOPMed,gnomAD
COL4A2	P08572	p.Pro388Ala	rs933951989	missense variant	-	NC_000013.11:g.110449762C>G	TOPMed,gnomAD
COL4A2	P08572	p.Gly390Val	rs1304939051	missense variant	-	NC_000013.11:g.110449769G>T	TOPMed,gnomAD
COL4A2	P08572	p.Leu391Phe	rs1438056218	missense variant	-	NC_000013.11:g.110449771C>T	TOPMed
COL4A2	P08572	p.Ser392Phe	rs1347479950	missense variant	-	NC_000013.11:g.110449775C>T	gnomAD
COL4A2	P08572	p.Ile393Met	rs74941798	missense variant	-	NC_000013.11:g.110449779C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly394Ala	rs770998099	missense variant	-	NC_000013.11:g.110449781G>C	ExAC,gnomAD
COL4A2	P08572	p.Gly394Arg	rs866443796	missense variant	-	NC_000013.11:g.110449780G>A	TOPMed,gnomAD
COL4A2	P08572	p.Asp395Gly	rs1312167981	missense variant	-	NC_000013.11:g.110449784A>G	gnomAD
COL4A2	P08572	p.Gly396Arg	rs1206326010	missense variant	-	NC_000013.11:g.110449786G>A	gnomAD
COL4A2	P08572	p.Gly396Glu	COSM5132903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110449787G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Arg400Thr	rs746145513	missense variant	-	NC_000013.11:g.110450314G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly401Asp	rs1289704454	missense variant	-	NC_000013.11:g.110450317G>A	gnomAD
COL4A2	P08572	p.Gly401Ser	rs1433079130	missense variant	-	NC_000013.11:g.110450316G>A	gnomAD
COL4A2	P08572	p.Pro403Thr	rs1333913921	missense variant	-	NC_000013.11:g.110450322C>A	TOPMed,gnomAD
COL4A2	P08572	p.Pro403Gln	rs772448912	missense variant	-	NC_000013.11:g.110450323C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro403Leu	rs772448912	missense variant	-	NC_000013.11:g.110450323C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro403Leu	RCV000293652	missense variant	Porencephalic cyst	NC_000013.11:g.110450323C>T	ClinVar
COL4A2	P08572	p.Glu405Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110450330G>T	NCI-TCGA
COL4A2	P08572	p.Pro408Ser	rs768988700	missense variant	-	NC_000013.11:g.110450337C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro408Arg	rs749949054	missense variant	-	NC_000013.11:g.110450338C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile412Val	rs566329266	missense variant	-	NC_000013.11:g.110450349A>G	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Gly413Arg	rs1464563247	missense variant	-	NC_000013.11:g.110450352G>A	TOPMed
COL4A2	P08572	p.Gly413Arg	rs1464563247	missense variant	-	NC_000013.11:g.110450352G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp414Glu	rs1241136559	missense variant	-	NC_000013.11:g.110450357C>A	gnomAD
COL4A2	P08572	p.Asp414Ala	rs751089424	missense variant	-	NC_000013.11:g.110450356A>C	ExAC,gnomAD
COL4A2	P08572	p.Gly416Ser	rs1210621623	missense variant	-	NC_000013.11:g.110450361G>A	TOPMed
COL4A2	P08572	p.Ile417Thr	rs752427280	missense variant	-	NC_000013.11:g.110450365T>C	ExAC,gnomAD
COL4A2	P08572	p.Pro418Ser	COSM3467218	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110450367C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Ala419Val	RCV000329824	missense variant	Porencephalic cyst	NC_000013.11:g.110450371C>T	ClinVar
COL4A2	P08572	p.Ala419Val	rs72657933	missense variant	-	NC_000013.11:g.110450371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu420Pro	rs753858167	missense variant	-	NC_000013.11:g.110450374T>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly422Arg	rs779091629	missense variant	-	NC_000013.11:g.110450379G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly422Glu	rs1338436328	missense variant	-	NC_000013.11:g.110450380G>A	TOPMed,gnomAD
COL4A2	P08572	p.Pro425Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110450389C>T	NCI-TCGA
COL4A2	P08572	p.Gly426Glu	rs1451743441	missense variant	-	NC_000013.11:g.110450392G>A	gnomAD
COL4A2	P08572	p.Gly426Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110450391G>A	NCI-TCGA
COL4A2	P08572	p.Pro427Ser	rs1322010053	missense variant	-	NC_000013.11:g.110450394C>T	TOPMed
COL4A2	P08572	p.Pro427Arg	rs780436805	missense variant	-	NC_000013.11:g.110450395C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro427Leu	rs780436805	missense variant	-	NC_000013.11:g.110450395C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp428Glu	rs1283027266	missense variant	-	NC_000013.11:g.110450399T>A	gnomAD
COL4A2	P08572	p.Arg431Gln	rs376488796	missense variant	-	NC_000013.11:g.110450407G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg431Gly	rs747324600	missense variant	-	NC_000013.11:g.110450406C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg431Ter	rs747324600	stop gained	-	NC_000013.11:g.110450406C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg431Ter	rs747324600	stop gained	-	NC_000013.11:g.110450406C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro433Ser	rs1265319405	missense variant	-	NC_000013.11:g.110450412C>T	gnomAD
COL4A2	P08572	p.Pro433Leu	rs776980571	missense variant	-	NC_000013.11:g.110450413C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro434Ser	rs1183468410	missense variant	-	NC_000013.11:g.110450415C>T	gnomAD
COL4A2	P08572	p.Pro434Leu	rs1236205262	missense variant	-	NC_000013.11:g.110450416C>T	gnomAD
COL4A2	P08572	p.Pro436Arg	rs369506338	missense variant	-	NC_000013.11:g.110450422C>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro436Thr	rs570728234	missense variant	-	NC_000013.11:g.110450421C>A	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Pro436Ser	rs570728234	missense variant	-	NC_000013.11:g.110450421C>T	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Pro436Leu	rs369506338	missense variant	-	NC_000013.11:g.110450422C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro437Ala	rs375372676	missense variant	-	NC_000013.11:g.110450424C>G	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Pro437Ser	rs375372676	missense variant	-	NC_000013.11:g.110450424C>T	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Pro437Ser	rs375372676	missense variant	-	NC_000013.11:g.110450424C>T	NCI-TCGA
COL4A2	P08572	p.Gly438Arg	rs1266666247	missense variant	-	NC_000013.11:g.110450427G>A	TOPMed
COL4A2	P08572	p.Pro440Thr	rs767139003	missense variant	-	NC_000013.11:g.110450433C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro440Arg	rs752459272	missense variant	-	NC_000013.11:g.110450434C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro440Ala	rs767139003	missense variant	-	NC_000013.11:g.110450433C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro442Gln	rs753599916	missense variant	-	NC_000013.11:g.110450440C>A	NCI-TCGA
COL4A2	P08572	p.Pro442Ser	rs764002137	missense variant	-	NC_000013.11:g.110450439C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro442Gln	rs753599916	missense variant	-	NC_000013.11:g.110450440C>A	ExAC,gnomAD
COL4A2	P08572	p.Pro443Arg	rs192250572	missense variant	-	NC_000013.11:g.110450443C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro443Arg	RCV000290038	missense variant	Porencephalic cyst	NC_000013.11:g.110450443C>G	ClinVar
COL4A2	P08572	p.Gly444Arg	rs1224929858	missense variant	-	NC_000013.11:g.110450445G>A	gnomAD
COL4A2	P08572	p.Asp446Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110450451G>A	NCI-TCGA
COL4A2	P08572	p.Phe448Cys	rs753801111	missense variant	-	NC_000013.11:g.110457346T>G	TOPMed
COL4A2	P08572	p.Phe450Cys	COSM945359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110457352T>G	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly451Glu	rs370700585	missense variant	-	NC_000013.11:g.110457355G>A	ESP,ExAC,TOPMed
COL4A2	P08572	p.Lys453Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110457360A>G	NCI-TCGA
COL4A2	P08572	p.Gly454Arg	COSM3467219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110457363G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Lys456Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110457371A>C	NCI-TCGA
COL4A2	P08572	p.Gly457Arg	rs1387736913	missense variant	-	NC_000013.11:g.110457372G>A	gnomAD
COL4A2	P08572	p.Arg458Lys	rs762207321	missense variant	-	NC_000013.11:g.110457376G>A	ExAC,gnomAD
COL4A2	P08572	p.Ala459Thr	rs202017641	missense variant	-	NC_000013.11:g.110457378G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala459Thr	RCV000394963	missense variant	Porencephalic cyst	NC_000013.11:g.110457378G>A	ClinVar
COL4A2	P08572	p.Ala459Ser	rs202017641	missense variant	-	NC_000013.11:g.110457378G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly463Glu	rs1245209457	missense variant	-	NC_000013.11:g.110457391G>A	TOPMed
COL4A2	P08572	p.Pro465Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110457396C>T	NCI-TCGA
COL4A2	P08572	p.Pro465Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110457397C>T	NCI-TCGA
COL4A2	P08572	p.Gly466Ser	rs374820618	missense variant	-	NC_000013.11:g.110457399G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser467Thr	rs1436409014	missense variant	-	NC_000013.11:g.110457402T>A	gnomAD
COL4A2	P08572	p.Ser467Tyr	rs1297540573	missense variant	-	NC_000013.11:g.110457403C>A	gnomAD
COL4A2	P08572	p.Pro468Arg	rs752241504	missense variant	-	NC_000013.11:g.110457406C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly469Ala	rs755752113	missense variant	-	NC_000013.11:g.110457409G>C	ExAC,gnomAD
COL4A2	P08572	p.Gly469Glu	rs755752113	missense variant	-	NC_000013.11:g.110457409G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly469Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110457408G>A	NCI-TCGA
COL4A2	P08572	p.Ala470Val	rs1284916032	missense variant	-	NC_000013.11:g.110457412C>T	gnomAD
COL4A2	P08572	p.Arg471His	rs372173405	missense variant	-	NC_000013.11:g.110457415G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg471Cys	rs367551920	missense variant	-	NC_000013.11:g.110457414C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg471Pro	rs372173405	missense variant	-	NC_000013.11:g.110457415G>C	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly472Arg	rs1465203402	missense variant	-	NC_000013.11:g.110457417G>A	gnomAD
COL4A2	P08572	p.Gly472Arg	RCV000522001	missense variant	-	NC_000013.11:g.110457417G>A	ClinVar
COL4A2	P08572	p.Pro473Ser	rs1432536821	missense variant	-	NC_000013.11:g.110457420C>T	TOPMed
COL4A2	P08572	p.Pro473Gln	rs1207936307	missense variant	-	NC_000013.11:g.110457421C>A	gnomAD
COL4A2	P08572	p.Lys474Asn	rs756953202	missense variant	-	NC_000013.11:g.110457425G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys474Asn	COSM4045960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110457425G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Trp476Ter	rs1242854945	stop gained	-	NC_000013.11:g.110457430G>A	gnomAD
COL4A2	P08572	p.Asp479His	rs1461225740	missense variant	-	NC_000013.11:g.110458773G>C	gnomAD
COL4A2	P08572	p.Ala480Ser	rs561067393	missense variant	-	NC_000013.11:g.110458776G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala480Thr	rs561067393	missense variant	-	NC_000013.11:g.110458776G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly481Glu	rs1000663745	missense variant	-	NC_000013.11:g.110458780G>A	gnomAD
COL4A2	P08572	p.Glu482Ter	rs780429644	stop gained	-	NC_000013.11:g.110458782G>T	ExAC,gnomAD
COL4A2	P08572	p.Glu482Ala	rs1450355830	missense variant	-	NC_000013.11:g.110458783A>C	gnomAD
COL4A2	P08572	p.Cys483Tyr	rs1284969360	missense variant	-	NC_000013.11:g.110458786G>A	gnomAD
COL4A2	P08572	p.Arg484Thr	rs886049972	missense variant	-	NC_000013.11:g.110458789G>C	-
COL4A2	P08572	p.Arg484Thr	RCV000286317	missense variant	Porencephalic cyst	NC_000013.11:g.110458789G>C	ClinVar
COL4A2	P08572	p.Cys485Arg	rs369804330	missense variant	-	NC_000013.11:g.110458791T>C	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly488Asp	rs865961716	missense variant	-	NC_000013.11:g.110458801G>A	TOPMed
COL4A2	P08572	p.Asp489Asn	rs777186602	missense variant	-	NC_000013.11:g.110458803G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Glu490Lys	rs372114837	missense variant	-	NC_000013.11:g.110458806G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile492Val	rs1187692110	missense variant	-	NC_000013.11:g.110458812A>G	gnomAD
COL4A2	P08572	p.Lys493Arg	rs1432166098	missense variant	-	NC_000013.11:g.110458816A>G	TOPMed
COL4A2	P08572	p.Pro496Ser	rs374754168	missense variant	-	NC_000013.11:g.110458824C>T	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Pro496Leu	rs570979461	missense variant	-	NC_000013.11:g.110458825C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly497Arg	rs1163917280	missense variant	-	NC_000013.11:g.110458827G>A	TOPMed
COL4A2	P08572	p.Leu498Pro	rs1458192767	missense variant	-	NC_000013.11:g.110458831T>C	TOPMed,gnomAD
COL4A2	P08572	p.Leu498Val	rs1414660137	missense variant	-	NC_000013.11:g.110458830C>G	gnomAD
COL4A2	P08572	p.Pro499Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110458833C>A	NCI-TCGA
COL4A2	P08572	p.Pro501His	COSM5687415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110458840C>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Phe504Tyr	rs760442875	missense variant	-	NC_000013.11:g.110458849T>A	ExAC,gnomAD
COL4A2	P08572	p.Ala505Thr	rs753867828	missense variant	-	NC_000013.11:g.110458851G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala505Val	rs757391857	missense variant	-	NC_000013.11:g.110458852C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly506Val	COSM696000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110458855G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Asn508Ser	rs1258863712	missense variant	-	NC_000013.11:g.110458861A>G	gnomAD
COL4A2	P08572	p.Gly509Glu	rs1200521598	missense variant	-	NC_000013.11:g.110458864G>A	gnomAD
COL4A2	P08572	p.Gly509Arg	rs1490227936	missense variant	-	NC_000013.11:g.110458863G>A	TOPMed
COL4A2	P08572	p.Pro511Thr	rs1484447344	missense variant	-	NC_000013.11:g.110458869C>A	gnomAD
COL4A2	P08572	p.Pro511Leu	rs373398289	missense variant	-	NC_000013.11:g.110458870C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro511Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110458870C>G	NCI-TCGA
COL4A2	P08572	p.Arg513Ser	rs1225090677	missense variant	-	NC_000013.11:g.110458877G>T	TOPMed
COL4A2	P08572	p.Gly515Arg	COSM695999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110458881G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp516Asn	rs1306100690	missense variant	-	NC_000013.11:g.110458884G>A	TOPMed
COL4A2	P08572	p.Arg517Lys	rs7990383	missense variant	-	NC_000013.11:g.110458888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg517Lys	rs7990383	missense variant	-	NC_000013.11:g.110458888G>A	UniProt,dbSNP
COL4A2	P08572	p.Arg517Lys	VAR_048796	missense variant	-	NC_000013.11:g.110458888G>A	UniProt
COL4A2	P08572	p.Arg517Lys	RCV000836661	missense variant	-	NC_000013.11:g.110458888G>A	ClinVar
COL4A2	P08572	p.Arg517Lys	RCV000394894	missense variant	Porencephalic cyst	NC_000013.11:g.110458888G>A	ClinVar
COL4A2	P08572	p.Asp519Tyr	rs755334935	missense variant	-	NC_000013.11:g.110458893G>T	ExAC,gnomAD
COL4A2	P08572	p.Pro520Arg	rs1210561453	missense variant	-	NC_000013.11:g.110458897C>G	gnomAD
COL4A2	P08572	p.Pro520Ser	rs1279469217	missense variant	-	NC_000013.11:g.110458896C>T	TOPMed
COL4A2	P08572	p.Gly521Ser	rs1433036701	missense variant	-	NC_000013.11:g.110458899G>A	gnomAD
COL4A2	P08572	p.Gly524Ser	rs773783775	missense variant	-	NC_000013.11:g.110458908G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly524Val	rs1459157263	missense variant	-	NC_000013.11:g.110458909G>T	TOPMed
COL4A2	P08572	p.Pro526Arg	rs745382040	missense variant	-	NC_000013.11:g.110458915C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro526Leu	rs745382040	missense variant	-	NC_000013.11:g.110458915C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Phe528Leu	rs1419525171	missense variant	-	NC_000013.11:g.110458922C>A	gnomAD
COL4A2	P08572	p.Gly530Arg	rs1233888364	missense variant	-	NC_000013.11:g.110458926G>A	gnomAD
COL4A2	P08572	p.Leu531Phe	rs760488852	missense variant	-	NC_000013.11:g.110458929C>T	ExAC,gnomAD
COL4A2	P08572	p.Lys532Arg	rs768623075	missense variant	-	NC_000013.11:g.110458933A>G	ExAC,gnomAD
COL4A2	P08572	p.Val534Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110462117G>T	NCI-TCGA
COL4A2	P08572	p.Pro535Ala	rs771523415	missense variant	-	NC_000013.11:g.110462120C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro535Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110462121C>T	NCI-TCGA
COL4A2	P08572	p.Asn537Ser	rs779735591	missense variant	-	NC_000013.11:g.110462127A>G	ExAC
COL4A2	P08572	p.Ile538Thr	rs773949303	missense variant	-	NC_000013.11:g.110462130T>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile538Val	rs1251476397	missense variant	-	NC_000013.11:g.110462129A>G	TOPMed
COL4A2	P08572	p.Ala540Asp	rs768454203	missense variant	-	NC_000013.11:g.110462136C>A	ExAC,gnomAD
COL4A2	P08572	p.Ala540Val	rs768454203	missense variant	-	NC_000013.11:g.110462136C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro541Ser	rs377759912	missense variant	-	NC_000013.11:g.110462138C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro541Leu	rs747768096	missense variant	-	NC_000013.11:g.110462139C>T	TOPMed
COL4A2	P08572	p.Gly542Ter	rs534644575	stop gained	-	NC_000013.11:g.110462141G>T	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Gly542Arg	COSM1365449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110462141G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Ala546Thr	rs1027800650	missense variant	-	NC_000013.11:g.110462153G>A	gnomAD
COL4A2	P08572	p.Ala546Ser	rs1027800650	missense variant	-	NC_000013.11:g.110462153G>T	gnomAD
COL4A2	P08572	p.Gly548GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110462155A>-	NCI-TCGA
COL4A2	P08572	p.Asp549Asn	rs1392128437	missense variant	-	NC_000013.11:g.110462162G>A	gnomAD
COL4A2	P08572	p.Arg551Ter	rs766317300	stop gained	-	NC_000013.11:g.110462168A>T	ExAC
COL4A2	P08572	p.Thr552Lys	rs112262533	missense variant	-	NC_000013.11:g.110462172C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr552Ala	rs1437194301	missense variant	-	NC_000013.11:g.110462171A>G	TOPMed,gnomAD
COL4A2	P08572	p.Thr552Lys	RCV000301385	missense variant	Porencephalic cyst	NC_000013.11:g.110462172C>A	ClinVar
COL4A2	P08572	p.Thr552Ile	rs112262533	missense variant	-	NC_000013.11:g.110462172C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr554Ile	rs376005921	missense variant	-	NC_000013.11:g.110462178C>T	ESP,ExAC,TOPMed
COL4A2	P08572	p.Gly557Ala	rs1353979950	missense variant	-	NC_000013.11:g.110462278G>C	TOPMed,gnomAD
COL4A2	P08572	p.Glu558Lys	rs1285539239	missense variant	-	NC_000013.11:g.110462280G>A	gnomAD
COL4A2	P08572	p.Arg559Gln	rs199574157	missense variant	-	NC_000013.11:g.110462284G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg559Trp	rs867029393	missense variant	-	NC_000013.11:g.110462283C>T	TOPMed
COL4A2	P08572	p.Arg559Leu	COSM6138546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110462284G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Val564Ile	rs374304814	missense variant	-	NC_000013.11:g.110462298G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val564Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110462299T>C	NCI-TCGA
COL4A2	P08572	p.Pro565Arg	rs1316076984	missense variant	-	NC_000013.11:g.110462302C>G	TOPMed
COL4A2	P08572	p.Pro565Thr	rs1187520506	missense variant	-	NC_000013.11:g.110462301C>A	gnomAD
COL4A2	P08572	p.Pro568Ala	rs754261920	missense variant	-	NC_000013.11:g.110462310C>G	ExAC,gnomAD
COL4A2	P08572	p.Gly569Arg	rs765791292	missense variant	-	NC_000013.11:g.110462313G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly569Glu	rs886049973	missense variant	-	NC_000013.11:g.110462314G>A	-
COL4A2	P08572	p.Gly569Glu	RCV000356149	missense variant	Porencephalic cyst	NC_000013.11:g.110462314G>A	ClinVar
COL4A2	P08572	p.Gly569Trp	COSM3671236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110462313G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Met570Val	rs897838617	missense variant	-	NC_000013.11:g.110462316A>G	TOPMed
COL4A2	P08572	p.Asp573Gly	rs1385685616	missense variant	-	NC_000013.11:g.110462326A>G	TOPMed
COL4A2	P08572	p.Asp574Asn	rs751105211	missense variant	-	NC_000013.11:g.110462328G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser576Asn	rs1085307799	missense variant	-	NC_000013.11:g.110462335G>A	gnomAD
COL4A2	P08572	p.Ser576Asn	RCV000489475	missense variant	-	NC_000013.11:g.110462335G>A	ClinVar
COL4A2	P08572	p.Pro577Gln	rs747751731	missense variant	-	NC_000013.11:g.110462338C>A	ExAC,gnomAD
COL4A2	P08572	p.Pro577Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110462337C>T	NCI-TCGA
COL4A2	P08572	p.Arg579Leu	rs777360782	missense variant	-	NC_000013.11:g.110462344G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg579Cys	rs755820436	missense variant	-	NC_000013.11:g.110462343C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg579His	rs777360782	missense variant	-	NC_000013.11:g.110462344G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp580Glu	rs745914600	missense variant	-	NC_000013.11:g.110462348T>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp580Asn	RCV000390182	missense variant	Porencephalic cyst	NC_000013.11:g.110462346G>A	ClinVar
COL4A2	P08572	p.Asp580Asn	rs766981913	missense variant	-	NC_000013.11:g.110462346G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp583Gly	rs368207474	missense variant	-	NC_000013.11:g.110462356A>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp583Asn	rs760848044	missense variant	-	NC_000013.11:g.110462355G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly584Glu	rs776804161	missense variant	-	NC_000013.11:g.110462359G>A	ExAC,gnomAD
COL4A2	P08572	p.Phe585Cys	rs762299284	missense variant	-	NC_000013.11:g.110462362T>G	ExAC,gnomAD
COL4A2	P08572	p.Gly587Ser	rs561349636	missense variant	-	NC_000013.11:g.110462367G>A	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Leu588Phe	rs1453236518	missense variant	-	NC_000013.11:g.110462370C>T	TOPMed,gnomAD
COL4A2	P08572	p.Gly590Val	rs1171277171	missense variant	-	NC_000013.11:g.110462377G>T	gnomAD
COL4A2	P08572	p.Gly590Cys	COSM695998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110462376G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro591Leu	rs886049974	missense variant	-	NC_000013.11:g.110462380C>T	gnomAD
COL4A2	P08572	p.Pro591Arg	rs886049974	missense variant	-	NC_000013.11:g.110462380C>G	gnomAD
COL4A2	P08572	p.Pro591Ser	rs1391570603	missense variant	-	NC_000013.11:g.110462379C>T	gnomAD
COL4A2	P08572	p.Pro591Arg	RCV000297788	missense variant	Porencephalic cyst	NC_000013.11:g.110462380C>G	ClinVar
COL4A2	P08572	p.Pro591Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110462379C>A	NCI-TCGA
COL4A2	P08572	p.Gly593Val	rs752237630	missense variant	-	NC_000013.11:g.110465406G>T	ExAC,gnomAD
COL4A2	P08572	p.Gly593Asp	COSM695997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110465406G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp594Val	rs1323931900	missense variant	-	NC_000013.11:g.110465409A>T	gnomAD
COL4A2	P08572	p.Gly595Ala	rs1349161442	missense variant	-	NC_000013.11:g.110465412G>C	TOPMed
COL4A2	P08572	p.Gly595Ser	rs1328304940	missense variant	-	NC_000013.11:g.110465411G>A	TOPMed,gnomAD
COL4A2	P08572	p.Lys597Arg	rs201676472	missense variant	-	NC_000013.11:g.110465418A>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys597Arg	RCV000276715	missense variant	Porencephalic cyst	NC_000013.11:g.110465418A>G	ClinVar
COL4A2	P08572	p.Gly598Asp	rs753574231	missense variant	-	NC_000013.11:g.110465421G>A	ExAC,gnomAD
COL4A2	P08572	p.Asp602His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110465432G>C	NCI-TCGA
COL4A2	P08572	p.Pro603Leu	rs1211764922	missense variant	-	NC_000013.11:g.110465436C>T	gnomAD
COL4A2	P08572	p.Pro603Ser	rs1334018285	missense variant	-	NC_000013.11:g.110465435C>T	gnomAD
COL4A2	P08572	p.Ile608Met	rs778640424	missense variant	-	NC_000013.11:g.110465452A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile608Val	rs936420463	missense variant	-	NC_000013.11:g.110465450A>G	TOPMed
COL4A2	P08572	p.Thr611Met	rs373521529	missense variant	-	NC_000013.11:g.110465460C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr614Ile	rs1190435633	missense variant	-	NC_000013.11:g.110465469C>T	gnomAD
COL4A2	P08572	p.Pro615Gln	rs768824750	missense variant	-	NC_000013.11:g.110465472C>A	ExAC,gnomAD
COL4A2	P08572	p.Pro615Leu	rs768824750	missense variant	-	NC_000013.11:g.110465472C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro615Ala	rs747059028	missense variant	-	NC_000013.11:g.110465471C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro615Ser	rs747059028	missense variant	-	NC_000013.11:g.110465471C>T	ExAC,gnomAD
COL4A2	P08572	p.Met618Ile	rs1163375156	missense variant	-	NC_000013.11:g.110465482G>T	gnomAD
COL4A2	P08572	p.Gly619Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110465483G>C	NCI-TCGA
COL4A2	P08572	p.Pro620Leu	rs748355973	missense variant	-	NC_000013.11:g.110465487C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro621Leu	rs756435509	missense variant	-	NC_000013.11:g.110465490C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly622Val	COSM1477057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110465493G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Leu623Pro	rs886049975	missense variant	-	NC_000013.11:g.110465496T>C	TOPMed,gnomAD
COL4A2	P08572	p.Leu623Gln	rs886049975	missense variant	-	NC_000013.11:g.110465496T>A	TOPMed,gnomAD
COL4A2	P08572	p.Leu623Gln	RCV000331873	missense variant	Porencephalic cyst	NC_000013.11:g.110465496T>A	ClinVar
COL4A2	P08572	p.Leu625His	rs1281205141	missense variant	-	NC_000013.11:g.110465502T>A	gnomAD
COL4A2	P08572	p.Gly627Ser	rs771559117	missense variant	-	NC_000013.11:g.110465507G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu628Arg	rs760079031	missense variant	-	NC_000013.11:g.110465511T>G	ExAC,gnomAD
COL4A2	P08572	p.Lys629Glu	rs763608966	missense variant	-	NC_000013.11:g.110465513A>G	ExAC,gnomAD
COL4A2	P08572	p.Lys629Arg	rs1475067377	missense variant	-	NC_000013.11:g.110465514A>G	gnomAD
COL4A2	P08572	p.Gly630Cys	COSM4045962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110465516G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Arg632Cys	rs369462083	missense variant	-	NC_000013.11:g.110465522C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg632Pro	rs543519112	missense variant	-	NC_000013.11:g.110465523G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg632His	rs543519112	missense variant	-	NC_000013.11:g.110465523G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly633Asp	rs1057523764	missense variant	-	NC_000013.11:g.110465526G>A	-
COL4A2	P08572	p.Gly633Asp	RCV000426149	missense variant	-	NC_000013.11:g.110465526G>A	ClinVar
COL4A2	P08572	p.Asp637Glu	rs764883197	missense variant	-	NC_000013.11:g.110465539C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp637Glu	rs764883197	missense variant	-	NC_000013.11:g.110465539C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp637Ala	rs1376223669	missense variant	-	NC_000013.11:g.110465538A>C	TOPMed
COL4A2	P08572	p.Ala638Pro	rs758260445	missense variant	-	NC_000013.11:g.110465540G>C	ExAC,gnomAD
COL4A2	P08572	p.Ala638Thr	rs758260445	missense variant	-	NC_000013.11:g.110465540G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly639Ser	rs751567401	missense variant	-	NC_000013.11:g.110465543G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro641Arg	rs754896444	missense variant	-	NC_000013.11:g.110465550C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro641Ala	rs1412683360	missense variant	-	NC_000013.11:g.110465549C>G	TOPMed,gnomAD
COL4A2	P08572	p.Pro641His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110465550C>A	NCI-TCGA
COL4A2	P08572	p.Pro643Ser	rs1336204648	missense variant	-	NC_000013.11:g.110465555C>T	gnomAD
COL4A2	P08572	p.Pro644Leu	rs781263723	missense variant	-	NC_000013.11:g.110465559C>T	ExAC,gnomAD
COL4A2	P08572	p.Phe646Tyr	COSM3987296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110465565T>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Leu647Val	rs748187379	missense variant	-	NC_000013.11:g.110465567C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro649Ser	rs370641410	missense variant	-	NC_000013.11:g.110465573C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro649Ser	RCV000367862	missense variant	Porencephalic cyst	NC_000013.11:g.110465573C>T	ClinVar
COL4A2	P08572	p.Pro649LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110465572C>-	NCI-TCGA
COL4A2	P08572	p.Pro650Ser	RCV000677262	missense variant	Optic nerve hypoplasia	NC_000013.11:g.110465576C>T	ClinVar
COL4A2	P08572	p.Pro650Ser	rs200735885	missense variant	-	NC_000013.11:g.110465576C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala653Thr	rs199875726	missense variant	-	NC_000013.11:g.110465585G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala653Ser	rs199875726	missense variant	-	NC_000013.11:g.110465585G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr655Ile	rs1438849012	missense variant	-	NC_000013.11:g.110465592C>T	gnomAD
COL4A2	P08572	p.Pro656Leu	rs761371212	missense variant	-	NC_000013.11:g.110465595C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly657Arg	rs764866798	missense variant	-	NC_000013.11:g.110465597G>A	ExAC,gnomAD
COL4A2	P08572	p.Lys666Gln	rs765957029	missense variant	-	NC_000013.11:g.110466020A>C	ExAC,gnomAD
COL4A2	P08572	p.Arg667Ser	rs1368120282	missense variant	-	NC_000013.11:g.110466025G>C	gnomAD
COL4A2	P08572	p.Arg667Lys	rs774178765	missense variant	-	NC_000013.11:g.110466024G>A	ExAC,gnomAD
COL4A2	P08572	p.Val669Ile	rs201356199	missense variant	-	NC_000013.11:g.110466029G>A	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Gly670Arg	rs1227076681	missense variant	-	NC_000013.11:g.110466032G>A	gnomAD
COL4A2	P08572	p.Gly671Ser	rs143710874	missense variant	-	NC_000013.11:g.110466035G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp672Asn	rs756141826	missense variant	-	NC_000013.11:g.110466038G>A	ExAC,gnomAD
COL4A2	P08572	p.Gln674Leu	rs371914914	missense variant	-	NC_000013.11:g.110466045A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln674Glu	rs1487529651	missense variant	-	NC_000013.11:g.110466044C>G	gnomAD
COL4A2	P08572	p.Ala676Thr	rs1428160301	missense variant	-	NC_000013.11:g.110466050G>A	TOPMed,gnomAD
COL4A2	P08572	p.Ala676Ser	rs1428160301	missense variant	-	NC_000013.11:g.110466050G>T	TOPMed,gnomAD
COL4A2	P08572	p.Ala676Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110466051C>T	NCI-TCGA
COL4A2	P08572	p.Pro679Leu	rs1203236820	missense variant	-	NC_000013.11:g.110466060C>T	TOPMed
COL4A2	P08572	p.Gly680Val	rs1420810281	missense variant	-	NC_000013.11:g.110467040G>T	gnomAD
COL4A2	P08572	p.Ile682Val	rs761867026	missense variant	-	NC_000013.11:g.110467045A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile682Met	rs1417378542	missense variant	-	NC_000013.11:g.110467047A>G	gnomAD
COL4A2	P08572	p.Ile682Thr	rs1344111908	missense variant	-	NC_000013.11:g.110467046T>C	gnomAD
COL4A2	P08572	p.Gly683Ala	rs3803230	missense variant	-	NC_000013.11:g.110467049G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly683Ala	RCV000379310	missense variant	Porencephalic cyst	NC_000013.11:g.110467049G>C	ClinVar
COL4A2	P08572	p.Gly683Ala	RCV000836723	missense variant	-	NC_000013.11:g.110467049G>C	ClinVar
COL4A2	P08572	p.Gly684Ala	rs201214647	missense variant	-	NC_000013.11:g.110467052G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys686Arg	rs780360632	missense variant	-	NC_000013.11:g.110467058A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly687Arg	COSM6073991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110467060G>C	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly690Ser	rs1307736256	missense variant	-	NC_000013.11:g.110467069G>A	gnomAD
COL4A2	P08572	p.Gly690Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110467070G>A	NCI-TCGA
COL4A2	P08572	p.Pro692Arg	rs1238144166	missense variant	-	NC_000013.11:g.110467076C>G	gnomAD
COL4A2	P08572	p.Pro694Leu	rs1282719893	missense variant	-	NC_000013.11:g.110467082C>T	gnomAD
COL4A2	P08572	p.Pro695Leu	rs781710976	missense variant	-	NC_000013.11:g.110467085C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro695Gln	rs781710976	missense variant	-	NC_000013.11:g.110467085C>A	ExAC,gnomAD
COL4A2	P08572	p.Pro695Ser	COSM4400845	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110467084C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly696Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110467087G>T	NCI-TCGA
COL4A2	P08572	p.Pro697Arg	rs770394643	missense variant	-	NC_000013.11:g.110467091C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro697Ter	RCV000627496	frameshift	-	NC_000013.11:g.110467091_110467092del	ClinVar
COL4A2	P08572	p.Thr698Arg	rs778506428	missense variant	-	NC_000013.11:g.110467094C>G	ExAC,gnomAD
COL4A2	P08572	p.Ala700Ser	rs1401207289	missense variant	-	NC_000013.11:g.110469219G>T	gnomAD
COL4A2	P08572	p.Ala700Val	rs1275785761	missense variant	-	NC_000013.11:g.110469220C>T	TOPMed,gnomAD
COL4A2	P08572	p.Lys701Arg	rs78829338	missense variant	-	NC_000013.11:g.110469223A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys701Arg	RCV000224185	missense variant	-	NC_000013.11:g.110469223A>G	ClinVar
COL4A2	P08572	p.Lys701Arg	RCV000339830	missense variant	Porencephalic cyst	NC_000013.11:g.110469223A>G	ClinVar
COL4A2	P08572	p.Leu703Phe	rs1330805752	missense variant	-	NC_000013.11:g.110469228C>T	gnomAD
COL4A2	P08572	p.Arg704Ter	rs753109070	stop gained	-	NC_000013.11:g.110469231C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg704Gln	rs535778755	missense variant	-	NC_000013.11:g.110469232G>A	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Gly705Val	rs1306463381	missense variant	-	NC_000013.11:g.110469235G>T	gnomAD
COL4A2	P08572	p.Ile706SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110469231_110469232insGAGGAAGCCTT	NCI-TCGA
COL4A2	P08572	p.Pro707Leu	rs377272255	missense variant	-	NC_000013.11:g.110469241C>T	ESP,ExAC,gnomAD
COL4A2	P08572	p.Pro707Ser	rs1349550999	missense variant	-	NC_000013.11:g.110469240C>T	gnomAD
COL4A2	P08572	p.Ala710Thr	rs375421811	missense variant	-	NC_000013.11:g.110469249G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala710Ser	rs375421811	missense variant	-	NC_000013.11:g.110469249G>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly711Ala	rs1199170231	missense variant	-	NC_000013.11:g.110469253G>C	TOPMed,gnomAD
COL4A2	P08572	p.Gly711Glu	rs1199170231	missense variant	-	NC_000013.11:g.110469253G>A	TOPMed,gnomAD
COL4A2	P08572	p.Ala712Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110469255G>T	NCI-TCGA
COL4A2	P08572	p.Asp713Asn	rs1275649825	missense variant	-	NC_000013.11:g.110469258G>A	TOPMed,gnomAD
COL4A2	P08572	p.Asp713Val	rs1458608259	missense variant	-	NC_000013.11:g.110469259A>T	gnomAD
COL4A2	P08572	p.Gly714Arg	rs1178051998	missense variant	-	NC_000013.11:g.110469261G>A	gnomAD
COL4A2	P08572	p.Pro718Ser	rs9583500	missense variant	-	NC_000013.11:g.110469273C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro718Ser	RCV000836662	missense variant	-	NC_000013.11:g.110469273C>T	ClinVar
COL4A2	P08572	p.Pro718Ser	RCV000375113	missense variant	Porencephalic cyst	NC_000013.11:g.110469273C>T	ClinVar
COL4A2	P08572	p.Arg719Thr	rs371548028	missense variant	-	NC_000013.11:g.110469277G>C	ESP
COL4A2	P08572	p.Arg719Gly	rs754712677	missense variant	-	NC_000013.11:g.110469276A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu721Phe	rs780786567	missense variant	-	NC_000013.11:g.110469284G>T	ExAC,gnomAD
COL4A2	P08572	p.Ala725Gly	rs749301484	missense variant	-	NC_000013.11:g.110469295C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala725Thr	rs769608611	missense variant	-	NC_000013.11:g.110469294G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala725Ser	rs769608611	missense variant	-	NC_000013.11:g.110469294G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly726Arg	rs770946467	missense variant	-	NC_000013.11:g.110469297G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly726Asp	rs1372515992	missense variant	-	NC_000013.11:g.110469298G>A	gnomAD
COL4A2	P08572	p.Arg727His	rs774443437	missense variant	-	NC_000013.11:g.110469301G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg727Leu	rs774443437	missense variant	-	NC_000013.11:g.110469301G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg727Cys	rs975341170	missense variant	-	NC_000013.11:g.110469300C>T	TOPMed,gnomAD
COL4A2	P08572	p.Glu728Lys	rs950372377	missense variant	-	NC_000013.11:g.110469303G>A	TOPMed
COL4A2	P08572	p.Glu728Val	rs1329056641	missense variant	-	NC_000013.11:g.110469304A>T	TOPMed,gnomAD
COL4A2	P08572	p.Gly729Arg	rs201058867	missense variant	-	NC_000013.11:g.110469306G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly729Glu	rs1253478483	missense variant	-	NC_000013.11:g.110469307G>A	gnomAD
COL4A2	P08572	p.Gly729Arg	rs201058867	missense variant	-	NC_000013.11:g.110469306G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly729Arg	RCV000677256	missense variant	Optic nerve hypoplasia	NC_000013.11:g.110469306G>A	ClinVar
COL4A2	P08572	p.Phe730Leu	rs775703612	missense variant	-	NC_000013.11:g.110469309T>C	ExAC,gnomAD
COL4A2	P08572	p.Pro733Ser	rs1476316700	missense variant	-	NC_000013.11:g.110469318C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro734Ser	rs761169216	missense variant	-	NC_000013.11:g.110469321C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro734Leu	rs764477907	missense variant	-	NC_000013.11:g.110469322C>T	ExAC,gnomAD
COL4A2	P08572	p.Ile737Met	rs1020490248	missense variant	-	NC_000013.11:g.110472936A>G	TOPMed,gnomAD
COL4A2	P08572	p.Ile737Val	rs1207098850	missense variant	-	NC_000013.11:g.110472934A>G	gnomAD
COL4A2	P08572	p.Pro739Ser	rs1487838935	missense variant	-	NC_000013.11:g.110472940C>T	TOPMed,gnomAD
COL4A2	P08572	p.Arg740Gln	rs377148815	missense variant	-	NC_000013.11:g.110472944G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg740Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.110472943C>T	NCI-TCGA
COL4A2	P08572	p.Ser742Tyr	rs749181285	missense variant	-	NC_000013.11:g.110472950C>A	ExAC,gnomAD
COL4A2	P08572	p.Ser742Cys	rs749181285	missense variant	-	NC_000013.11:g.110472950C>G	ExAC,gnomAD
COL4A2	P08572	p.Ser742Phe	rs749181285	missense variant	-	NC_000013.11:g.110472950C>T	ExAC,gnomAD
COL4A2	P08572	p.Val746Leu	rs778905902	missense variant	-	NC_000013.11:g.110472961G>T	ExAC,gnomAD
COL4A2	P08572	p.Leu748Phe	rs1454928357	missense variant	-	NC_000013.11:g.110472967C>T	gnomAD
COL4A2	P08572	p.Asp752Asn	rs1359566925	missense variant	-	NC_000013.11:g.110472979G>A	gnomAD
COL4A2	P08572	p.Ser754Phe	rs1296740603	missense variant	-	NC_000013.11:g.110472986C>T	gnomAD
COL4A2	P08572	p.Gly756Ser	rs1356564289	missense variant	-	NC_000013.11:g.110472991G>A	TOPMed
COL4A2	P08572	p.Ile758Val	rs1312698644	missense variant	-	NC_000013.11:g.110472997A>G	TOPMed,gnomAD
COL4A2	P08572	p.Ile758Met	rs760926154	missense variant	-	NC_000013.11:g.110472999C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile758Ser	rs1319972493	missense variant	-	NC_000013.11:g.110472998T>G	TOPMed,gnomAD
COL4A2	P08572	p.Gly759Cys	rs866088460	missense variant	-	NC_000013.11:g.110473000G>T	TOPMed,gnomAD
COL4A2	P08572	p.Gly759Ser	rs866088460	missense variant	-	NC_000013.11:g.110473000G>A	TOPMed,gnomAD
COL4A2	P08572	p.Leu760Pro	rs1353283469	missense variant	-	NC_000013.11:g.110473004T>C	gnomAD
COL4A2	P08572	p.Asp764Gly	rs369694407	missense variant	-	NC_000013.11:g.110473016A>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly765Glu	rs1447718756	missense variant	-	NC_000013.11:g.110473019G>A	gnomAD
COL4A2	P08572	p.Pro766Ser	rs749389413	missense variant	-	NC_000013.11:g.110473021C>T	gnomAD
COL4A2	P08572	p.Pro766Leu	rs1193775766	missense variant	-	NC_000013.11:g.110473022C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro766Thr	rs749389413	missense variant	-	NC_000013.11:g.110473021C>A	gnomAD
COL4A2	P08572	p.Arg770Gly	rs1047806468	missense variant	-	NC_000013.11:g.110473033A>G	TOPMed
COL4A2	P08572	p.Gly771AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110473034G>-	NCI-TCGA
COL4A2	P08572	p.Leu772Phe	rs765856160	missense variant	-	NC_000013.11:g.110473039C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro773Leu	rs1379233742	missense variant	-	NC_000013.11:g.110473043C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro773Ser	rs886049976	missense variant	-	NC_000013.11:g.110473042C>T	gnomAD
COL4A2	P08572	p.Pro773Ser	RCV000280551	missense variant	Porencephalic cyst	NC_000013.11:g.110473042C>T	ClinVar
COL4A2	P08572	p.Glu775Lys	COSM3813399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110473048G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Val776Ala	rs1157181000	missense variant	-	NC_000013.11:g.110473052T>C	gnomAD
COL4A2	P08572	p.Gly778Arg	rs759187657	missense variant	-	NC_000013.11:g.110473057G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala779Gly	rs1302775228	missense variant	-	NC_000013.11:g.110473061C>G	TOPMed,gnomAD
COL4A2	P08572	p.Ala779Val	rs1302775228	missense variant	-	NC_000013.11:g.110473061C>T	TOPMed,gnomAD
COL4A2	P08572	p.Gln780Lys	rs1377705882	missense variant	-	NC_000013.11:g.110473063C>A	gnomAD
COL4A2	P08572	p.Pro781Ser	rs1393158472	missense variant	-	NC_000013.11:g.110473066C>T	gnomAD
COL4A2	P08572	p.Gly782Trp	rs768662646	missense variant	-	NC_000013.11:g.110473069G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly782Arg	rs768662646	missense variant	-	NC_000013.11:g.110473069G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro783Ser	rs568478674	missense variant	-	NC_000013.11:g.110473072C>T	1000Genomes
COL4A2	P08572	p.Arg784Gln	rs529661399	missense variant	-	NC_000013.11:g.110473076G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg784Trp	rs1312549863	missense variant	-	NC_000013.11:g.110473075C>T	TOPMed,gnomAD
COL4A2	P08572	p.Asp786Val	rs753642146	missense variant	-	NC_000013.11:g.110473082A>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly788Cys	COSM695995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110473087G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Val789Met	rs757171393	missense variant	-	NC_000013.11:g.110473090G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro790Leu	rs1237057850	missense variant	-	NC_000013.11:g.110473094C>T	gnomAD
COL4A2	P08572	p.Pro790Ser	rs865834443	missense variant	-	NC_000013.11:g.110473093C>T	gnomAD
COL4A2	P08572	p.Leu795Phe	rs1340849111	missense variant	-	NC_000013.11:g.110473108C>T	TOPMed
COL4A2	P08572	p.Pro799Ser	rs376694121	missense variant	-	NC_000013.11:g.110473120C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly800Ter	rs867981304	stop gained	-	NC_000013.11:g.110473123G>T	gnomAD
COL4A2	P08572	p.Gly800Arg	rs867981304	missense variant	-	NC_000013.11:g.110473123G>A	gnomAD
COL4A2	P08572	p.Pro804Thr	rs1467675725	missense variant	-	NC_000013.11:g.110473135C>A	gnomAD
COL4A2	P08572	p.Pro805Leu	rs1376206514	missense variant	-	NC_000013.11:g.110473139C>T	gnomAD
COL4A2	P08572	p.Pro805LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110473134C>-	NCI-TCGA
COL4A2	P08572	p.Phe807Cys	rs1305880482	missense variant	-	NC_000013.11:g.110473145T>G	TOPMed,gnomAD
COL4A2	P08572	p.Arg808Ile	rs1368588252	missense variant	-	NC_000013.11:g.110473148G>T	gnomAD
COL4A2	P08572	p.Ser810Asn	RCV000335701	missense variant	Porencephalic cyst	NC_000013.11:g.110478006G>A	ClinVar
COL4A2	P08572	p.Ser810Asn	rs372516991	missense variant	-	NC_000013.11:g.110478006G>A	ESP
COL4A2	P08572	p.Met813Leu	rs758300584	missense variant	-	NC_000013.11:g.110478014A>T	ExAC,gnomAD
COL4A2	P08572	p.Gly815Ala	rs780116763	missense variant	-	NC_000013.11:g.110478021G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly815Ala	RCV000397527	missense variant	Porencephalic cyst	NC_000013.11:g.110478021G>C	ClinVar
COL4A2	P08572	p.Gly815Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110478021G>A	NCI-TCGA
COL4A2	P08572	p.Pro817Ser	rs1477145737	missense variant	-	NC_000013.11:g.110478026C>T	TOPMed,gnomAD
COL4A2	P08572	p.Gly821Ser	rs1405042949	missense variant	-	NC_000013.11:g.110478038G>A	TOPMed
COL4A2	P08572	p.Gln822His	rs1414599637	missense variant	-	NC_000013.11:g.110478043G>T	gnomAD
COL4A2	P08572	p.Leu825Phe	rs781631712	missense variant	-	NC_000013.11:g.110478050C>T	ExAC,gnomAD
COL4A2	P08572	p.Leu825Ile	rs781631712	missense variant	-	NC_000013.11:g.110478050C>A	ExAC,gnomAD
COL4A2	P08572	p.Pro826Arg	rs1020176452	missense variant	-	NC_000013.11:g.110478054C>G	TOPMed,gnomAD
COL4A2	P08572	p.Gly830Val	rs773739507	missense variant	-	NC_000013.11:g.110478066G>T	ExAC,gnomAD
COL4A2	P08572	p.Gln831Arg	rs1467033339	missense variant	-	NC_000013.11:g.110478069A>G	gnomAD
COL4A2	P08572	p.Pro832Leu	rs1450159508	missense variant	-	NC_000013.11:g.110478072C>T	gnomAD
COL4A2	P08572	p.Gly833Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110478074G>T	NCI-TCGA
COL4A2	P08572	p.Leu834Pro	rs749734117	missense variant	-	NC_000013.11:g.110478078T>C	ExAC,gnomAD
COL4A2	P08572	p.Tyr835Cys	rs1226173908	missense variant	-	NC_000013.11:g.110478081A>G	gnomAD
COL4A2	P08572	p.Pro837Ser	rs771353368	missense variant	-	NC_000013.11:g.110478086C>T	ExAC,gnomAD
COL4A2	P08572	p.His841Arg	rs1262947423	missense variant	-	NC_000013.11:g.110478099A>G	gnomAD
COL4A2	P08572	p.Gly842Arg	rs566588729	missense variant	-	NC_000013.11:g.110478101G>A	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Pro844Thr	rs763705148	missense variant	-	NC_000013.11:g.110478107C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro844Ser	rs763705148	missense variant	-	NC_000013.11:g.110478107C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro844Ser	RCV000481798	missense variant	-	NC_000013.11:g.110478107C>T	ClinVar
COL4A2	P08572	p.Pro847Leu	rs1238625390	missense variant	-	NC_000013.11:g.110478117C>T	gnomAD
COL4A2	P08572	p.Gln849Pro	rs761477697	missense variant	-	NC_000013.11:g.110478123A>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln849Glu	rs1161550147	missense variant	-	NC_000013.11:g.110478122C>G	gnomAD
COL4A2	P08572	p.Gln849Pro	RCV000519433	missense variant	-	NC_000013.11:g.110478123A>C	ClinVar
COL4A2	P08572	p.Pro852Ser	rs1157780529	missense variant	-	NC_000013.11:g.110478131C>T	gnomAD
COL4A2	P08572	p.Pro852Leu	rs918015888	missense variant	-	NC_000013.11:g.110478132C>T	TOPMed,gnomAD
COL4A2	P08572	p.Gly854Val	rs1339816245	missense variant	-	NC_000013.11:g.110478138G>T	gnomAD
COL4A2	P08572	p.Leu855Met	rs1253094286	missense variant	-	NC_000013.11:g.110478140C>A	TOPMed
COL4A2	P08572	p.Leu855Arg	rs750225192	missense variant	-	NC_000013.11:g.110478141T>G	ExAC,gnomAD
COL4A2	P08572	p.Pro856Arg	rs758300900	missense variant	-	NC_000013.11:g.110478144C>G	ExAC,gnomAD
COL4A2	P08572	p.Gly857Arg	rs1555331796	missense variant	-	NC_000013.11:g.110478146G>A	-
COL4A2	P08572	p.Gly857Arg	RCV000658354	missense variant	-	NC_000013.11:g.110478146G>A	ClinVar
COL4A2	P08572	p.Ile858Val	rs766288416	missense variant	-	NC_000013.11:g.110478149A>G	ExAC,gnomAD
COL4A2	P08572	p.Pro859Ser	rs1238946710	missense variant	-	NC_000013.11:g.110478152C>T	gnomAD
COL4A2	P08572	p.Arg861Cys	rs751658527	missense variant	-	NC_000013.11:g.110478158C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg861His	rs370815108	missense variant	-	NC_000013.11:g.110478159G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg861Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110478159G>T	NCI-TCGA
COL4A2	P08572	p.Glu862Val	rs781440001	missense variant	-	NC_000013.11:g.110478162A>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro865His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110480226C>A	NCI-TCGA
COL4A2	P08572	p.Asp867Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110480232A>G	NCI-TCGA
COL4A2	P08572	p.Arg868Lys	rs1420866067	missense variant	-	NC_000013.11:g.110480235G>A	TOPMed
COL4A2	P08572	p.Asp870Glu	rs754198686	missense variant	-	NC_000013.11:g.110480242C>A	ExAC,gnomAD
COL4A2	P08572	p.Pro871Ala	rs1328695139	missense variant	-	NC_000013.11:g.110480243C>G	gnomAD
COL4A2	P08572	p.Pro871Leu	rs757611517	missense variant	-	NC_000013.11:g.110480244C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro871Arg	rs757611517	missense variant	-	NC_000013.11:g.110480244C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp873Asn	rs1387017990	missense variant	-	NC_000013.11:g.110480249G>A	gnomAD
COL4A2	P08572	p.Thr874Ile	rs1243627134	missense variant	-	NC_000013.11:g.110480253C>T	TOPMed
COL4A2	P08572	p.Ala876Thr	rs779357792	missense variant	-	NC_000013.11:g.110480258G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly878Arg	rs1222123658	missense variant	-	NC_000013.11:g.110480264G>C	gnomAD
COL4A2	P08572	p.Met882Val	rs746292800	missense variant	-	NC_000013.11:g.110480276A>G	ExAC,gnomAD
COL4A2	P08572	p.Met882Ile	rs1319212176	missense variant	-	NC_000013.11:g.110480278G>A	gnomAD
COL4A2	P08572	p.Gly884Ser	rs772597024	missense variant	-	NC_000013.11:g.110480282G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly884Val	COSM3399232	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480283G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Leu885Val	rs780630242	missense variant	-	NC_000013.11:g.110480285C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu885Ile	rs780630242	missense variant	-	NC_000013.11:g.110480285C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser886Pro	rs1210627893	missense variant	-	NC_000013.11:g.110480288T>C	gnomAD
COL4A2	P08572	p.Ser886Phe	rs1037576655	missense variant	-	NC_000013.11:g.110480289C>T	TOPMed,gnomAD
COL4A2	P08572	p.Gly890Glu	COSM3467227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480301G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly890Arg	rs747703785	missense variant	-	NC_000013.11:g.110480300G>A	ExAC,gnomAD
COL4A2	P08572	p.Asp891Gly	rs769402563	missense variant	-	NC_000013.11:g.110480304A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr895Lys	rs762791730	missense variant	-	NC_000013.11:g.110480316C>A	ExAC,gnomAD
COL4A2	P08572	p.Glu897Gln	rs770568883	missense variant	-	NC_000013.11:g.110480321G>C	ExAC,gnomAD
COL4A2	P08572	p.Gln898Ter	rs774237426	stop gained	-	NC_000013.11:g.110480324C>T	ExAC,gnomAD
COL4A2	P08572	p.His900Tyr	rs367545580	missense variant	-	NC_000013.11:g.110480330C>T	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Pro901Leu	rs759501342	missense variant	-	NC_000013.11:g.110480334C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly902Ala	rs1388143812	missense variant	-	NC_000013.11:g.110480337G>C	gnomAD
COL4A2	P08572	p.Gly902Ter	COSM6073990	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110480336G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro904His	COSM6073989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480343C>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Phe906Leu	rs1235056541	missense variant	-	NC_000013.11:g.110480350T>A	gnomAD
COL4A2	P08572	p.Phe906Tyr	rs1337120386	missense variant	-	NC_000013.11:g.110480349T>A	gnomAD
COL4A2	P08572	p.Lys907Thr	rs767615338	missense variant	-	NC_000013.11:g.110480352A>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly908Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.110480354G>T	NCI-TCGA
COL4A2	P08572	p.Ile909Met	rs752795557	missense variant	-	NC_000013.11:g.110480359T>G	ExAC,gnomAD
COL4A2	P08572	p.Asp910His	COSM432115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480360G>C	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly914Ala	rs1464531805	missense variant	-	NC_000013.11:g.110480373G>C	TOPMed
COL4A2	P08572	p.Thr915Ile	rs760906110	missense variant	-	NC_000013.11:g.110480376C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr915Asn	rs760906110	missense variant	-	NC_000013.11:g.110480376C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro916Ser	rs1477932169	missense variant	-	NC_000013.11:g.110480378C>T	TOPMed
COL4A2	P08572	p.Gly917Ala	rs1323569336	missense variant	-	NC_000013.11:g.110480382G>C	gnomAD
COL4A2	P08572	p.Gly917Arg	COSM295643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480381G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Lys919Arg	rs1189130473	missense variant	-	NC_000013.11:g.110480388A>G	TOPMed
COL4A2	P08572	p.Asp921Val	rs369814664	missense variant	-	NC_000013.11:g.110482519A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp921Gly	rs369814664	missense variant	-	NC_000013.11:g.110482519A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser924Leu	rs1240694748	missense variant	-	NC_000013.11:g.110482528C>T	gnomAD
COL4A2	P08572	p.Ser924Pro	rs761891227	missense variant	-	NC_000013.11:g.110482527T>C	ExAC,gnomAD
COL4A2	P08572	p.Pro925Arg	rs1178852607	missense variant	-	NC_000013.11:g.110482531C>G	TOPMed,gnomAD
COL4A2	P08572	p.Pro925Ser	rs181283055	missense variant	-	NC_000013.11:g.110482530C>T	1000Genomes,TOPMed,gnomAD
COL4A2	P08572	p.Met927Ile	rs765543373	missense variant	-	NC_000013.11:g.110482538G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Met927Val	rs145040676	missense variant	-	NC_000013.11:g.110482536A>G	1000Genomes,gnomAD
COL4A2	P08572	p.Gly932Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110482551G>T	NCI-TCGA
COL4A2	P08572	p.Met933Ile	rs1336692495	missense variant	-	NC_000013.11:g.110482556G>A	gnomAD
COL4A2	P08572	p.Met933Thr	rs758826364	missense variant	-	NC_000013.11:g.110482555T>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro934Thr	COSM6073988	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110482557C>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly935Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110482561G>C	NCI-TCGA
COL4A2	P08572	p.Leu936Phe	rs1188144380	missense variant	-	NC_000013.11:g.110482563C>T	TOPMed
COL4A2	P08572	p.Lys937Asn	rs1449160236	missense variant	-	NC_000013.11:g.110482568A>C	gnomAD
COL4A2	P08572	p.Pro940Leu	rs939245942	missense variant	-	NC_000013.11:g.110482576C>T	TOPMed
COL4A2	P08572	p.Gly941Ala	rs1221813265	missense variant	-	NC_000013.11:g.110482579G>C	gnomAD
COL4A2	P08572	p.Gly941Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110482578G>A	NCI-TCGA
COL4A2	P08572	p.Pro943Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110482584C>T	NCI-TCGA
COL4A2	P08572	p.Ser945Asn	rs777103069	missense variant	-	NC_000013.11:g.110482591G>A	ExAC,gnomAD
COL4A2	P08572	p.Ser945Gly	rs755545052	missense variant	-	NC_000013.11:g.110482590A>G	ExAC,gnomAD
COL4A2	P08572	p.Glu948Lys	rs199678709	missense variant	-	NC_000013.11:g.110482599G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Glu948Asp	rs1458711906	missense variant	-	NC_000013.11:g.110482601G>C	TOPMed,gnomAD
COL4A2	P08572	p.Ala949Pro	rs756831431	missense variant	-	NC_000013.11:g.110482602G>C	ExAC,gnomAD
COL4A2	P08572	p.Ala949Val	rs778696475	missense variant	-	NC_000013.11:g.110482603C>T	ExAC,gnomAD
COL4A2	P08572	p.Ala949Val	RCV000658683	missense variant	-	NC_000013.11:g.110482603C>T	ClinVar
COL4A2	P08572	p.Phe951Val	rs745646300	missense variant	-	NC_000013.11:g.110482608T>G	ExAC,gnomAD
COL4A2	P08572	p.Phe952Val	rs1175807377	missense variant	-	NC_000013.11:g.110482611T>G	gnomAD
COL4A2	P08572	p.Phe952Ser	NCI-TCGA novel	inframe deletion	-	NC_000013.11:g.110482612_110482620TCGGAATAC>-	NCI-TCGA
COL4A2	P08572	p.Gly953Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110482614G>A	NCI-TCGA
COL4A2	P08572	p.Pro955Leu	rs775430349	missense variant	-	NC_000013.11:g.110482621C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly956Ser	rs1427893299	missense variant	-	NC_000013.11:g.110482623G>A	gnomAD
COL4A2	P08572	p.Gly962Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110482641G>A	NCI-TCGA
COL4A2	P08572	p.Glu963Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110482644G>A	NCI-TCGA
COL4A2	P08572	p.Pro964Ser	rs1325156655	missense variant	-	NC_000013.11:g.110482647C>T	TOPMed
COL4A2	P08572	p.Pro964Leu	rs768659199	missense variant	-	NC_000013.11:g.110482648C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly965Asp	RCV000521727	missense variant	-	NC_000013.11:g.110482651G>A	ClinVar
COL4A2	P08572	p.Gly965Asp	rs776550709	missense variant	-	NC_000013.11:g.110482651G>A	ExAC,gnomAD
COL4A2	P08572	p.Ser969Arg	rs750031316	missense variant	-	NC_000013.11:g.110484909C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg970Gln	rs1229599196	missense variant	-	NC_000013.11:g.110484911G>A	gnomAD
COL4A2	P08572	p.Arg970Ter	rs758156725	stop gained	-	NC_000013.11:g.110484910C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly971Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110484914G>C	NCI-TCGA
COL4A2	P08572	p.Asp972ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110484913G>-	NCI-TCGA
COL4A2	P08572	p.Pro976GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110484925C>-	NCI-TCGA
COL4A2	P08572	p.Pro978Gln	rs1290009913	missense variant	-	NC_000013.11:g.110484935C>A	gnomAD
COL4A2	P08572	p.Pro978Ala	rs781255496	missense variant	-	NC_000013.11:g.110484934C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro979Ser	COSM4771230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110484937C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Leu983Pro	rs1195022297	missense variant	-	NC_000013.11:g.110484950T>C	gnomAD
COL4A2	P08572	p.Pro984Thr	rs1188001799	missense variant	-	NC_000013.11:g.110484952C>A	gnomAD
COL4A2	P08572	p.Gly985Val	rs769851485	missense variant	-	NC_000013.11:g.110484956G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly985Ala	rs769851485	missense variant	-	NC_000013.11:g.110484956G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys987Asn	rs915738007	missense variant	-	NC_000013.11:g.110484963A>C	TOPMed
COL4A2	P08572	p.Asp988Asn	rs771195548	missense variant	-	NC_000013.11:g.110484964G>A	ExAC,gnomAD
COL4A2	P08572	p.Ile989Thr	rs1161945549	missense variant	-	NC_000013.11:g.110484968T>C	gnomAD
COL4A2	P08572	p.Ile989Val	rs1424296656	missense variant	-	NC_000013.11:g.110484967A>G	TOPMed,gnomAD
COL4A2	P08572	p.Ile989Leu	rs1424296656	missense variant	-	NC_000013.11:g.110484967A>C	TOPMed,gnomAD
COL4A2	P08572	p.Gly994Arg	COSM3872847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110484982G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Glu996Ala	rs1380793212	missense variant	-	NC_000013.11:g.110484989A>C	TOPMed
COL4A2	P08572	p.Gly997Arg	COSM3467228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110484991G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro998Ser	rs1420136912	missense variant	-	NC_000013.11:g.110484994C>T	gnomAD
COL4A2	P08572	p.Met999Val	rs1317550156	missense variant	-	NC_000013.11:g.110484997A>G	gnomAD
COL4A2	P08572	p.Leu1001Met	rs760014620	missense variant	-	NC_000013.11:g.110485003C>A	ExAC,gnomAD
COL4A2	P08572	p.Leu1005Val	rs767899188	missense variant	-	NC_000013.11:g.110485015C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1007Ser	rs148455649	missense variant	-	NC_000013.11:g.110485021G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1007Thr	rs148455649	missense variant	-	NC_000013.11:g.110485021G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys1008Asn	COSM1365454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485026A>C	NCI-TCGA Cosmic
COL4A2	P08572	p.Ile1010Val	rs780886978	missense variant	-	NC_000013.11:g.110485657A>G	TOPMed
COL4A2	P08572	p.Met1013Val	rs1390429064	missense variant	-	NC_000013.11:g.110485666A>G	gnomAD
COL4A2	P08572	p.Ile1016Phe	rs567061637	missense variant	-	NC_000013.11:g.110485675A>T	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Pro1017Arg	rs1389183567	missense variant	-	NC_000013.11:g.110485679C>G	TOPMed
COL4A2	P08572	p.Gly1018Val	COSM6073987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485682G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Ser1020Leu	rs1284408840	missense variant	-	NC_000013.11:g.110485688C>T	gnomAD
COL4A2	P08572	p.Gly1021Glu	COSM3467229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485691G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Ile1022Val	rs1323467427	missense variant	-	NC_000013.11:g.110485693A>G	gnomAD
COL4A2	P08572	p.Arg1028Ser	rs1331691675	missense variant	-	NC_000013.11:g.110485713G>T	TOPMed
COL4A2	P08572	p.Arg1028Met	COSM6138543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485712G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Arg1028GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110485708G>-	NCI-TCGA
COL4A2	P08572	p.Pro1029Thr	rs746063904	missense variant	-	NC_000013.11:g.110485714C>A	ExAC,gnomAD
COL4A2	P08572	p.Gly1030Ser	rs747373721	missense variant	-	NC_000013.11:g.110485717G>A	ExAC,TOPMed
COL4A2	P08572	p.Gly1030Cys	COSM695993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485717G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.His1031Arg	rs769279552	missense variant	-	NC_000013.11:g.110485721A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys1033Glu	rs777334614	missense variant	-	NC_000013.11:g.110485726A>G	ExAC,gnomAD
COL4A2	P08572	p.Gly1034Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110485730G>A	NCI-TCGA
COL4A2	P08572	p.Gly1037Glu	rs387906603	missense variant	Brain small vessel disease 2 (BSVD2)	NC_000013.11:g.110485739G>A	UniProt,dbSNP
COL4A2	P08572	p.Gly1037Glu	VAR_067837	missense variant	Brain small vessel disease 2 (BSVD2)	NC_000013.11:g.110485739G>A	UniProt
COL4A2	P08572	p.Gly1037Glu	rs387906603	missense variant	Porencephaly 2 (poren2)	NC_000013.11:g.110485739G>A	-
COL4A2	P08572	p.Gly1037Glu	RCV000022468	missense variant	Porencephaly 2 (BSVD2)	NC_000013.11:g.110485739G>A	ClinVar
COL4A2	P08572	p.Gly1037Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110485738G>A	NCI-TCGA
COL4A2	P08572	p.Pro1042Ser	rs1343473958	missense variant	-	NC_000013.11:g.110485753C>T	gnomAD
COL4A2	P08572	p.Pro1042Leu	rs1479434007	missense variant	-	NC_000013.11:g.110485754C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro1042Ala	COSM3467230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485753C>G	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly1046Ser	rs1407372947	missense variant	-	NC_000013.11:g.110485765G>A	gnomAD
COL4A2	P08572	p.Pro1048Gln	rs767119766	missense variant	-	NC_000013.11:g.110485772C>A	ExAC,gnomAD
COL4A2	P08572	p.Pro1048Ser	rs759176184	missense variant	-	NC_000013.11:g.110485771C>T	ExAC,gnomAD
COL4A2	P08572	p.Phe1050Tyr	rs1403618256	missense variant	-	NC_000013.11:g.110485778T>A	gnomAD
COL4A2	P08572	p.Phe1050Ser	rs1403618256	missense variant	-	NC_000013.11:g.110485778T>C	gnomAD
COL4A2	P08572	p.Val1053Met	rs1440092987	missense variant	-	NC_000013.11:g.110485786G>A	gnomAD
COL4A2	P08572	p.Pro1056Ser	rs375377948	missense variant	-	NC_000013.11:g.110485795C>T	ESP,ExAC,gnomAD
COL4A2	P08572	p.Pro1057Thr	rs201763437	missense variant	-	NC_000013.11:g.110485798C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1057Ala	rs201763437	missense variant	-	NC_000013.11:g.110485798C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1057Ser	rs201763437	missense variant	-	NC_000013.11:g.110485798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1057LeuPheSerTerUnkUnk	COSM5165286	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110485794C>-	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly1058Ter	RCV000512646	frameshift	-	NC_000013.11:g.110485799dup	ClinVar
COL4A2	P08572	p.Ile1059Thr	rs538572755	missense variant	-	NC_000013.11:g.110485805T>C	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Thr1060Met	rs372727377	missense variant	-	NC_000013.11:g.110485808C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Phe1065Leu	rs758614751	missense variant	-	NC_000013.11:g.110485822T>C	ExAC,gnomAD
COL4A2	P08572	p.Phe1065Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110485824C>A	NCI-TCGA
COL4A2	P08572	p.Ile1066Thr	rs1262423458	missense variant	-	NC_000013.11:g.110485826T>C	TOPMed,gnomAD
COL4A2	P08572	p.Ile1066Val	rs780207925	missense variant	-	NC_000013.11:g.110485825A>G	ExAC,gnomAD
COL4A2	P08572	p.Ile1066Lys	rs1262423458	missense variant	-	NC_000013.11:g.110485826T>A	TOPMed,gnomAD
COL4A2	P08572	p.Ile1066Met	rs747362304	missense variant	-	NC_000013.11:g.110485827A>G	ExAC,gnomAD
COL4A2	P08572	p.Arg1069Gln	rs200275883	missense variant	-	NC_000013.11:g.110485835G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1069Trp	rs200165414	missense variant	-	NC_000013.11:g.110485834C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp1071Gly	rs755280064	missense variant	-	NC_000013.11:g.110489449A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp1071Ala	rs755280064	missense variant	-	NC_000013.11:g.110489449A>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys1072Arg	rs370353262	missense variant	-	NC_000013.11:g.110489452A>G	ESP,ExAC,gnomAD
COL4A2	P08572	p.Pro1075Leu	rs999162118	missense variant	-	NC_000013.11:g.110489461C>T	gnomAD
COL4A2	P08572	p.Gly1076Arg	COSM4913374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110489463G>C	NCI-TCGA Cosmic
COL4A2	P08572	p.Ala1078Val	rs200914492	missense variant	-	NC_000013.11:g.110489470C>T	TOPMed
COL4A2	P08572	p.Tyr1081Phe	rs370759950	missense variant	-	NC_000013.11:g.110489479A>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Tyr1081Cys	rs370759950	missense variant	-	NC_000013.11:g.110489479A>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Glu1083Lys	rs1022756703	missense variant	-	NC_000013.11:g.110489484G>A	TOPMed,gnomAD
COL4A2	P08572	p.Ile1084Thr	rs771420771	missense variant	-	NC_000013.11:g.110489488T>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1086Thr	rs368382267	missense variant	-	NC_000013.11:g.110489493G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1086Val	rs370679299	missense variant	-	NC_000013.11:g.110489494C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1086Val	RCV000417915	missense variant	-	NC_000013.11:g.110489494C>T	ClinVar
COL4A2	P08572	p.Thr1087Asn	rs765208038	missense variant	-	NC_000013.11:g.110489497C>A	ExAC,gnomAD
COL4A2	P08572	p.Phe1090Ile	rs1404126493	missense variant	-	NC_000013.11:g.110489505T>A	gnomAD
COL4A2	P08572	p.Gly1091Ser	rs766327197	missense variant	-	NC_000013.11:g.110489508G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp1092Asn	rs767723644	missense variant	-	NC_000013.11:g.110489713G>A	ExAC,gnomAD
COL4A2	P08572	p.Ile1093Val	rs752903694	missense variant	-	NC_000013.11:g.110489716A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile1093Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110489717T>C	NCI-TCGA
COL4A2	P08572	p.Gly1094Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110489720G>A	NCI-TCGA
COL4A2	P08572	p.Thr1096Ala	rs886049978	missense variant	-	NC_000013.11:g.110489725A>G	TOPMed,gnomAD
COL4A2	P08572	p.Thr1096Ala	RCV000267977	missense variant	Porencephalic cyst	NC_000013.11:g.110489725A>G	ClinVar
COL4A2	P08572	p.Ile1097Val	rs764318575	missense variant	-	NC_000013.11:g.110489728A>G	ExAC,gnomAD
COL4A2	P08572	p.Ile1097Leu	rs764318575	missense variant	-	NC_000013.11:g.110489728A>C	ExAC,gnomAD
COL4A2	P08572	p.Asn1098Thr	rs757675325	missense variant	-	NC_000013.11:g.110489732A>C	ExAC,gnomAD
COL4A2	P08572	p.Leu1099Phe	rs779464248	missense variant	-	NC_000013.11:g.110489736A>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu1099Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110489734T>G	NCI-TCGA
COL4A2	P08572	p.Arg1102Ile	rs551174732	missense variant	-	NC_000013.11:g.110489744G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1103Ser	rs1419880917	missense variant	-	NC_000013.11:g.110489746C>T	gnomAD
COL4A2	P08572	p.Lys1106Asn	rs1423846979	missense variant	-	NC_000013.11:g.110489757G>T	gnomAD
COL4A2	P08572	p.Gly1107Trp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110489758G>T	NCI-TCGA
COL4A2	P08572	p.Arg1109Gln	RCV000323020	missense variant	Porencephalic cyst	NC_000013.11:g.110489765G>A	ClinVar
COL4A2	P08572	p.Arg1109Trp	rs780685222	missense variant	-	NC_000013.11:g.110489764C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1109Gln	rs184812559	missense variant	-	NC_000013.11:g.110489765G>A	UniProt,dbSNP
COL4A2	P08572	p.Arg1109Gln	VAR_067553	missense variant	-	NC_000013.11:g.110489765G>A	UniProt
COL4A2	P08572	p.Arg1109Gln	rs184812559	missense variant	-	NC_000013.11:g.110489765G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1110Ala	rs199531970	missense variant	-	NC_000013.11:g.110489768G>C	1000Genomes,TOPMed
COL4A2	P08572	p.Gly1110Asp	rs199531970	missense variant	-	NC_000013.11:g.110489768G>A	1000Genomes,TOPMed
COL4A2	P08572	p.Thr1111Ile	rs886049979	missense variant	-	NC_000013.11:g.110489771C>T	-
COL4A2	P08572	p.Thr1111Ile	RCV000377742	missense variant	Porencephalic cyst	NC_000013.11:g.110489771C>T	ClinVar
COL4A2	P08572	p.Thr1112Ala	rs749145790	missense variant	-	NC_000013.11:g.110489773A>G	ExAC,gnomAD
COL4A2	P08572	p.Ile1114Met	rs770982531	missense variant	-	NC_000013.11:g.110489781A>G	ExAC,gnomAD
COL4A2	P08572	p.Leu1117Arg	rs760877863	missense variant	-	NC_000013.11:g.110491236T>G	ExAC,gnomAD
COL4A2	P08572	p.Leu1117Val	rs1330542111	missense variant	-	NC_000013.11:g.110491235C>G	gnomAD
COL4A2	P08572	p.Gly1122Glu	rs1225384332	missense variant	-	NC_000013.11:g.110491251G>A	gnomAD
COL4A2	P08572	p.Glu1123Gly	rs117412802	missense variant	Hemorrhage, intracerebral, susceptibility to (ich)	NC_000013.11:g.110491254A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Glu1123Gly	RCV000318506	missense variant	Porencephalic cyst	NC_000013.11:g.110491254A>G	ClinVar
COL4A2	P08572	p.Lys1124Met	rs982975270	missense variant	-	NC_000013.11:g.110491257A>T	TOPMed,gnomAD
COL4A2	P08572	p.Lys1124Thr	rs982975270	missense variant	-	NC_000013.11:g.110491257A>C	TOPMed,gnomAD
COL4A2	P08572	p.Gly1128Asp	rs1275459741	missense variant	-	NC_000013.11:g.110491269G>A	gnomAD
COL4A2	P08572	p.Asp1129Asn	rs1438118274	missense variant	-	NC_000013.11:g.110491271G>A	gnomAD
COL4A2	P08572	p.Asp1129Asn	rs1438118274	missense variant	-	NC_000013.11:g.110491271G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp1129Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110491271G>T	NCI-TCGA
COL4A2	P08572	p.Ile1130Thr	rs765545175	missense variant	-	NC_000013.11:g.110491275T>C	ExAC,gnomAD
COL4A2	P08572	p.Ile1130Met	rs750808602	missense variant	-	NC_000013.11:g.110491276C>G	ExAC,gnomAD
COL4A2	P08572	p.Gly1131Ser	rs374458070	missense variant	-	NC_000013.11:g.110491277G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A2	P08572	p.Gly1131Ala	rs752141920	missense variant	-	NC_000013.11:g.110491278G>C	ExAC,gnomAD
COL4A2	P08572	p.Gly1131Ser	rs374458070	missense variant	-	NC_000013.11:g.110491277G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1134Arg	rs1085307983	missense variant	-	NC_000013.11:g.110491286G>A	-
COL4A2	P08572	p.Gly1134Arg	RCV000490216	missense variant	-	NC_000013.11:g.110491286G>A	ClinVar
COL4A2	P08572	p.Ile1135Met	rs777154642	missense variant	-	NC_000013.11:g.110491291A>G	ExAC,gnomAD
COL4A2	P08572	p.Thr1136Arg	rs1224497549	missense variant	-	NC_000013.11:g.110491293C>G	TOPMed
COL4A2	P08572	p.Val1138Met	rs367797470	missense variant	-	NC_000013.11:g.110491298G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr1139Asn	rs906087740	missense variant	-	NC_000013.11:g.110491302C>A	gnomAD
COL4A2	P08572	p.Thr1139Ser	rs906087740	missense variant	-	NC_000013.11:g.110491302C>G	gnomAD
COL4A2	P08572	p.Val1141Ile	rs376907041	missense variant	-	NC_000013.11:g.110491307G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1144Leu	rs1407273074	missense variant	-	NC_000013.11:g.110491317C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro1144Ser	rs757226079	missense variant	-	NC_000013.11:g.110491316C>T	TOPMed
COL4A2	P08572	p.Pro1144Thr	rs757226079	missense variant	-	NC_000013.11:g.110491316C>A	TOPMed
COL4A2	P08572	p.Leu1147Phe	rs1231162065	missense variant	-	NC_000013.11:g.110491325C>T	gnomAD
COL4A2	P08572	p.Lys1148Glu	rs780098350	missense variant	-	NC_000013.11:g.110491328A>G	ExAC,gnomAD
COL4A2	P08572	p.Gln1150Lys	RCV000278505	missense variant	Porencephalic cyst	NC_000013.11:g.110491334C>A	ClinVar
COL4A2	P08572	p.Gln1150Lys	rs62621875	missense variant	Hemorrhage, intracerebral, susceptibility to (ich)	NC_000013.11:g.110491334C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln1150Lys	rs62621875	missense variant	-	NC_000013.11:g.110491334C>A	UniProt,dbSNP
COL4A2	P08572	p.Gln1150Lys	VAR_067555	missense variant	-	NC_000013.11:g.110491334C>A	UniProt
COL4A2	P08572	p.Gln1150Arg	rs1404554201	missense variant	-	NC_000013.11:g.110491335A>G	TOPMed
COL4A2	P08572	p.Gly1152Asp	RCV000022467	missense variant	Porencephaly 2 (BSVD2)	NC_000013.11:g.110492070G>A	ClinVar
COL4A2	P08572	p.Gly1152Asp	rs387906602	missense variant	Porencephaly 2 (poren2)	NC_000013.11:g.110492070G>A	-
COL4A2	P08572	p.Gly1152Asp	rs387906602	missense variant	Brain small vessel disease 2 (BSVD2)	NC_000013.11:g.110492070G>A	UniProt,dbSNP
COL4A2	P08572	p.Gly1152Asp	VAR_067838	missense variant	Brain small vessel disease 2 (BSVD2)	NC_000013.11:g.110492070G>A	UniProt
COL4A2	P08572	p.Phe1153Leu	rs1164632644	missense variant	-	NC_000013.11:g.110492072T>C	gnomAD
COL4A2	P08572	p.Pro1160Ser	rs200189899	missense variant	-	NC_000013.11:g.110492093C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1161Ala	rs768500013	missense variant	-	NC_000013.11:g.110492097G>C	ExAC
COL4A2	P08572	p.Ser1162Ter	rs1385758833	stop gained	-	NC_000013.11:g.110492100C>A	TOPMed,gnomAD
COL4A2	P08572	p.Ser1162Leu	rs1385758833	missense variant	-	NC_000013.11:g.110492100C>T	TOPMed,gnomAD
COL4A2	P08572	p.Gly1164Arg	rs1057519090	missense variant	-	NC_000013.11:g.110492105G>A	-
COL4A2	P08572	p.Gly1164Arg	RCV000416075	missense variant	-	NC_000013.11:g.110492105G>A	ClinVar
COL4A2	P08572	p.Leu1166Pro	rs1385295882	missense variant	-	NC_000013.11:g.110492112T>C	gnomAD
COL4A2	P08572	p.Arg1168Gln	rs369072485	missense variant	-	NC_000013.11:g.110492118G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1168Trp	rs375813265	missense variant	-	NC_000013.11:g.110492117C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1168Leu	rs369072485	missense variant	-	NC_000013.11:g.110492118G>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu1171Pro	rs942019808	missense variant	-	NC_000013.11:g.110492127T>C	TOPMed,gnomAD
COL4A2	P08572	p.Leu1171Gln	rs942019808	missense variant	-	NC_000013.11:g.110492127T>A	TOPMed,gnomAD
COL4A2	P08572	p.Gly1176Glu	rs1261304975	missense variant	-	NC_000013.11:g.110492142G>A	gnomAD
COL4A2	P08572	p.Gly1179Ser	rs1206297668	missense variant	-	NC_000013.11:g.110492150G>A	gnomAD
COL4A2	P08572	p.Trp1180Ter	rs757773947	stop gained	-	NC_000013.11:g.110492155G>A	TOPMed
COL4A2	P08572	p.Pro1184Ser	rs1461513690	missense variant	-	NC_000013.11:g.110492165C>T	gnomAD
COL4A2	P08572	p.Pro1184Leu	rs1182652069	missense variant	-	NC_000013.11:g.110492166C>T	gnomAD
COL4A2	P08572	p.Gly1185Ala	rs1001764615	missense variant	-	NC_000013.11:g.110492169G>C	TOPMed
COL4A2	P08572	p.Gly1185Ser	rs1315639831	missense variant	-	NC_000013.11:g.110492168G>A	gnomAD
COL4A2	P08572	p.Gly1188Ser	rs1416760069	missense variant	-	NC_000013.11:g.110492177G>A	TOPMed
COL4A2	P08572	p.Gly1188Asp	rs1395555920	missense variant	-	NC_000013.11:g.110493211G>A	gnomAD
COL4A2	P08572	p.Pro1190Leu	rs199782906	missense variant	-	NC_000013.11:g.110493217C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1193His	rs1222391002	missense variant	-	NC_000013.11:g.110493226G>A	TOPMed,gnomAD
COL4A2	P08572	p.Arg1193Cys	rs746284597	missense variant	-	NC_000013.11:g.110493225C>T	ExAC,gnomAD
COL4A2	P08572	p.Arg1196Cys	rs1298681133	missense variant	-	NC_000013.11:g.110493234C>T	gnomAD
COL4A2	P08572	p.Arg1196His	rs772620582	missense variant	-	NC_000013.11:g.110493235G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1197Ser	rs776084205	missense variant	-	NC_000013.11:g.110493237G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.His1199Gln	rs370447219	missense variant	-	NC_000013.11:g.110493245C>A	ESP,ExAC,gnomAD
COL4A2	P08572	p.Gly1200Ser	rs1271683445	missense variant	-	NC_000013.11:g.110493246G>A	TOPMed,gnomAD
COL4A2	P08572	p.Leu1201Phe	rs1480771800	missense variant	-	NC_000013.11:g.110493251G>C	gnomAD
COL4A2	P08572	p.Pro1202Ser	rs772869687	missense variant	-	NC_000013.11:g.110493252C>T	ExAC,gnomAD
COL4A2	P08572	p.Thr1204Ile	rs1430488284	missense variant	-	NC_000013.11:g.110493259C>T	gnomAD
COL4A2	P08572	p.Thr1204Ser	rs762644328	missense variant	-	NC_000013.11:g.110493258A>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr1204Ile	rs1430488284	missense variant	-	NC_000013.11:g.110493259C>T	NCI-TCGA
COL4A2	P08572	p.Lys1205Asn	rs1171465939	missense variant	-	NC_000013.11:g.110493263G>C	gnomAD
COL4A2	P08572	p.Pro1208Ala	rs1395260344	missense variant	-	NC_000013.11:g.110493270C>G	gnomAD
COL4A2	P08572	p.Ser1213Ala	rs750573579	missense variant	-	NC_000013.11:g.110495344T>G	ExAC
COL4A2	P08572	p.Ile1215Thr	rs780542726	missense variant	-	NC_000013.11:g.110495351T>C	ExAC,gnomAD
COL4A2	P08572	p.His1216Tyr	rs1472380590	missense variant	-	NC_000013.11:g.110495353C>T	TOPMed,gnomAD
COL4A2	P08572	p.His1216Arg	rs540654571	missense variant	-	NC_000013.11:g.110495354A>G	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Gly1217Arg	rs781603184	missense variant	-	NC_000013.11:g.110495356G>A	ExAC,gnomAD
COL4A2	P08572	p.Asp1218Tyr	rs748699218	missense variant	-	NC_000013.11:g.110495359G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1219Ala	rs1296212323	missense variant	-	NC_000013.11:g.110495362C>G	TOPMed
COL4A2	P08572	p.Gly1223Asp	COSM6138542	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110495375G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro1224Ser	rs1385855862	missense variant	-	NC_000013.11:g.110495377C>T	gnomAD
COL4A2	P08572	p.Gly1226Glu	COSM3467234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110495384G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly1226Arg	rs1470737915	missense variant	-	NC_000013.11:g.110495383G>A	gnomAD
COL4A2	P08572	p.Glu1227Lys	COSM3467235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110495386G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Arg1228Gly	rs1337048689	missense variant	-	NC_000013.11:g.110495389A>G	TOPMed,gnomAD
COL4A2	P08572	p.Pro1231Ser	rs1052998929	missense variant	-	NC_000013.11:g.110495398C>T	TOPMed
COL4A2	P08572	p.Pro1231Arg	rs368834996	missense variant	-	NC_000013.11:g.110495399C>G	ESP,ExAC,gnomAD
COL4A2	P08572	p.Pro1231Gln	COSM945367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110495399C>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly1232Ala	rs1442002576	missense variant	-	NC_000013.11:g.110495402G>C	TOPMed
COL4A2	P08572	p.Ala1234Thr	rs773940707	missense variant	-	NC_000013.11:g.110495407G>A	ExAC,gnomAD
COL4A2	P08572	p.Ala1234Val	rs759169596	missense variant	-	NC_000013.11:g.110495408C>T	ExAC,gnomAD
COL4A2	P08572	p.Thr1236Ile	rs771755580	missense variant	-	NC_000013.11:g.110495414C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu1237Phe	rs1267563334	missense variant	-	NC_000013.11:g.110495416C>T	gnomAD
COL4A2	P08572	p.Pro1238Ala	rs375198480	missense variant	-	NC_000013.11:g.110495419C>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1239Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110495422G>A	NCI-TCGA
COL4A2	P08572	p.Pro1240Ser	rs760522637	missense variant	-	NC_000013.11:g.110495425C>T	ExAC,gnomAD
COL4A2	P08572	p.Val1241Leu	rs763891268	missense variant	-	NC_000013.11:g.110495428G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val1241Met	rs763891268	missense variant	-	NC_000013.11:g.110495428G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val1241Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110495429T>G	NCI-TCGA
COL4A2	P08572	p.Pro1244Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110495438C>G	NCI-TCGA
COL4A2	P08572	p.Gln1246Ter	rs369940160	stop gained	-	NC_000013.11:g.110495443C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln1246His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110495445G>C	NCI-TCGA
COL4A2	P08572	p.Gln1250Leu	rs1173195289	missense variant	-	NC_000013.11:g.110495456A>T	TOPMed
COL4A2	P08572	p.Gln1250Leu	rs1173195289	missense variant	-	NC_000013.11:g.110495456A>T	NCI-TCGA
COL4A2	P08572	p.Ala1252Gly	rs750564362	missense variant	-	NC_000013.11:g.110495462C>G	ExAC,gnomAD
COL4A2	P08572	p.Glu1255Gly	rs1199552495	missense variant	-	NC_000013.11:g.110501671A>G	gnomAD
COL4A2	P08572	p.Arg1256Ter	rs374366470	stop gained	-	NC_000013.11:g.110501673C>T	ESP,ExAC,gnomAD
COL4A2	P08572	p.Pro1259Ser	rs1313041506	missense variant	-	NC_000013.11:g.110501682C>T	TOPMed
COL4A2	P08572	p.Pro1259Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110501683C>T	NCI-TCGA
COL4A2	P08572	p.Gly1260Glu	COSM3467236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110501686G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gln1265Lys	rs773420600	missense variant	-	NC_000013.11:g.110501700C>A	ExAC,gnomAD
COL4A2	P08572	p.Gly1266Trp	rs1555333415	missense variant	-	NC_000013.11:g.110501703G>T	-
COL4A2	P08572	p.Gly1266Trp	RCV000497776	missense variant	-	NC_000013.11:g.110501703G>T	ClinVar
COL4A2	P08572	p.Pro1272Thr	rs1369263668	missense variant	-	NC_000013.11:g.110501721C>A	gnomAD
COL4A2	P08572	p.Pro1273Ala	rs201442362	missense variant	-	NC_000013.11:g.110501724C>G	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Pro1273His	rs928407150	missense variant	-	NC_000013.11:g.110501725C>A	TOPMed,gnomAD
COL4A2	P08572	p.Pro1273Ser	rs201442362	missense variant	-	NC_000013.11:g.110501724C>T	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Ser1274Phe	rs1330647482	missense variant	-	NC_000013.11:g.110501728C>T	gnomAD
COL4A2	P08572	p.Asn1275Ser	rs1231317430	missense variant	-	NC_000013.11:g.110501731A>G	gnomAD
COL4A2	P08572	p.Ser1277Thr	rs1342539034	missense variant	-	NC_000013.11:g.110501736T>A	gnomAD
COL4A2	P08572	p.Ser1277Cys	rs919222319	missense variant	-	NC_000013.11:g.110501737C>G	TOPMed,gnomAD
COL4A2	P08572	p.Gly1278Glu	rs1490811564	missense variant	-	NC_000013.11:g.110501740G>A	gnomAD
COL4A2	P08572	p.Ala1279Val	COSM6073986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110501743C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro1280Ser	rs767722951	missense variant	-	NC_000013.11:g.110501745C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp1282Asn	rs1449443736	missense variant	-	NC_000013.11:g.110501751G>A	gnomAD
COL4A2	P08572	p.Asp1282Gly	rs1194798779	missense variant	-	NC_000013.11:g.110501752A>G	gnomAD
COL4A2	P08572	p.Ala1285Val	rs753148213	missense variant	-	NC_000013.11:g.110501761C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro1286Ser	rs75571926	missense variant	-	NC_000013.11:g.110501763C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1286Ser	RCV000344932	missense variant	Porencephalic cyst	NC_000013.11:g.110501763C>T	ClinVar
COL4A2	P08572	p.Ile1288Thr	rs201297533	missense variant	-	NC_000013.11:g.110501770T>C	gnomAD
COL4A2	P08572	p.Ile1288Leu	rs779572433	missense variant	-	NC_000013.11:g.110501769A>T	ExAC,gnomAD
COL4A2	P08572	p.Gly1290Arg	rs1217020302	missense variant	-	NC_000013.11:g.110501775G>C	TOPMed
COL4A2	P08572	p.Lys1292Glu	rs1320481147	missense variant	-	NC_000013.11:g.110501781A>G	gnomAD
COL4A2	P08572	p.Arg1295Gln	rs199536398	missense variant	-	NC_000013.11:g.110503127G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1295Trp	rs187526694	missense variant	-	NC_000013.11:g.110503126C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1297Ser	rs780952542	missense variant	-	NC_000013.11:g.110503132C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro1298Leu	rs747765622	missense variant	-	NC_000013.11:g.110503136C>T	ExAC,gnomAD
COL4A2	P08572	p.Gly1299Arg	rs1372708958	missense variant	-	NC_000013.11:g.110503138G>C	TOPMed
COL4A2	P08572	p.Pro1301Ser	rs769564649	missense variant	-	NC_000013.11:g.110503144C>T	ExAC,gnomAD
COL4A2	P08572	p.Ala1304Thr	COSM432117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503153G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro1307Leu	rs201627758	missense variant	-	NC_000013.11:g.110503163C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1307Arg	RCV000429629	missense variant	-	NC_000013.11:g.110503163C>G	ClinVar
COL4A2	P08572	p.Pro1307Arg	rs201627758	missense variant	-	NC_000013.11:g.110503163C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp1312Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110503177G>T	NCI-TCGA
COL4A2	P08572	p.Asn1315Ser	rs945651445	missense variant	-	NC_000013.11:g.110503187A>G	TOPMed
COL4A2	P08572	p.Pro1316Ser	rs1361462862	missense variant	-	NC_000013.11:g.110503189C>T	TOPMed
COL4A2	P08572	p.Ala1318Pro	rs771039553	missense variant	-	NC_000013.11:g.110503195G>C	ExAC,gnomAD
COL4A2	P08572	p.Ala1318Val	rs774569479	missense variant	-	NC_000013.11:g.110503196C>T	ExAC,gnomAD
COL4A2	P08572	p.Ala1318Ser	rs771039553	missense variant	-	NC_000013.11:g.110503195G>T	ExAC,gnomAD
COL4A2	P08572	p.Pro1319Leu	rs1157146931	missense variant	-	NC_000013.11:g.110503199C>T	gnomAD
COL4A2	P08572	p.Gly1320Glu	rs377710650	missense variant	-	NC_000013.11:g.110503202G>A	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Gly1320Ala	rs377710650	missense variant	-	NC_000013.11:g.110503202G>C	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Thr1321Ile	rs570790825	missense variant	-	NC_000013.11:g.110503205C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1322Ala	rs772058725	missense variant	-	NC_000013.11:g.110503207C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1323Arg	rs1399856610	missense variant	-	NC_000013.11:g.110503210G>C	gnomAD
COL4A2	P08572	p.Lys1325Glu	rs1393050971	missense variant	-	NC_000013.11:g.110503216A>G	gnomAD
COL4A2	P08572	p.Gly1326Arg	rs1288983568	missense variant	-	NC_000013.11:g.110503219G>A	gnomAD
COL4A2	P08572	p.Trp1327Arg	rs1416541915	missense variant	-	NC_000013.11:g.110503222T>C	TOPMed,gnomAD
COL4A2	P08572	p.Ala1328Ser	rs1483534631	missense variant	-	NC_000013.11:g.110503225G>T	TOPMed
COL4A2	P08572	p.Gly1329Arg	rs760842202	missense variant	-	NC_000013.11:g.110503228G>A	ExAC,gnomAD
COL4A2	P08572	p.Asp1330Asn	rs370540848	missense variant	-	NC_000013.11:g.110503231G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser1331Phe	rs1213576989	missense variant	-	NC_000013.11:g.110503235C>T	TOPMed
COL4A2	P08572	p.Ser1331Cys	rs1213576989	missense variant	-	NC_000013.11:g.110503235C>G	TOPMed
COL4A2	P08572	p.Gly1332Arg	rs762275000	missense variant	-	NC_000013.11:g.110503237G>A	ExAC,gnomAD
COL4A2	P08572	p.Pro1333Leu	rs1207836357	missense variant	-	NC_000013.11:g.110503241C>T	gnomAD
COL4A2	P08572	p.Pro1333Thr	rs1482520970	missense variant	-	NC_000013.11:g.110503240C>A	gnomAD
COL4A2	P08572	p.Gly1335Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110503247G>A	NCI-TCGA
COL4A2	P08572	p.Arg1336Ser	rs550468643	missense variant	-	NC_000013.11:g.110503251G>T	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Arg1336Lys	rs372631674	missense variant	-	NC_000013.11:g.110503250G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1337Leu	rs1433959439	missense variant	-	NC_000013.11:g.110503253C>T	gnomAD
COL4A2	P08572	p.Gly1338Asp	rs777686568	missense variant	-	NC_000013.11:g.110503256G>A	ExAC,gnomAD
COL4A2	P08572	p.Val1339Met	rs749164047	missense variant	-	NC_000013.11:g.110503258G>A	ExAC,gnomAD
COL4A2	P08572	p.Phe1340Leu	rs1308499189	missense variant	-	NC_000013.11:g.110503261T>C	TOPMed,gnomAD
COL4A2	P08572	p.Gly1344Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.110503273G>T	NCI-TCGA
COL4A2	P08572	p.Glu1345Lys	rs1407965001	missense variant	-	NC_000013.11:g.110503276G>A	gnomAD
COL4A2	P08572	p.Glu1345Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110503276G>C	NCI-TCGA
COL4A2	P08572	p.Pro1348His	rs1220955619	missense variant	-	NC_000013.11:g.110503386C>A	gnomAD
COL4A2	P08572	p.Arg1349Thr	rs1263862222	missense variant	-	NC_000013.11:g.110503389G>C	gnomAD
COL4A2	P08572	p.Gly1353Ser	rs752196986	missense variant	-	NC_000013.11:g.110503400G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly1353Ala	rs1064795332	missense variant	-	NC_000013.11:g.110503401G>C	-
COL4A2	P08572	p.Gly1353Ala	RCV000480552	missense variant	-	NC_000013.11:g.110503401G>C	ClinVar
COL4A2	P08572	p.Met1355Thr	rs199956455	missense variant	-	NC_000013.11:g.110503407T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1356Arg	rs1261586546	missense variant	-	NC_000013.11:g.110503409G>A	gnomAD
COL4A2	P08572	p.Gly1359Arg	rs1272704133	missense variant	-	NC_000013.11:g.110503418G>A	TOPMed
COL4A2	P08572	p.Thr1361Ser	rs11617214	missense variant	-	NC_000013.11:g.110503424A>T	gnomAD
COL4A2	P08572	p.Thr1361Ala	rs11617214	missense variant	-	NC_000013.11:g.110503424A>G	gnomAD
COL4A2	P08572	p.Gly1362Arg	rs757047420	missense variant	-	NC_000013.11:g.110503427G>A	ExAC,gnomAD
COL4A2	P08572	p.Ala1363Val	rs1391182355	missense variant	-	NC_000013.11:g.110503431C>T	gnomAD
COL4A2	P08572	p.Val1364Leu	rs758319138	missense variant	-	NC_000013.11:g.110503433G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val1364Leu	rs758319138	missense variant	-	NC_000013.11:g.110503433G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1365Ala	rs747122463	missense variant	-	NC_000013.11:g.110503437G>C	ExAC,gnomAD
COL4A2	P08572	p.Gly1365Ser	rs1390259773	missense variant	-	NC_000013.11:g.110503436G>A	gnomAD
COL4A2	P08572	p.Asp1366Asn	RCV000400289	missense variant	Porencephalic cyst	NC_000013.11:g.110503439G>A	ClinVar
COL4A2	P08572	p.Asp1366Asn	rs558814304	missense variant	-	NC_000013.11:g.110503439G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys1370Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110503452A>G	NCI-TCGA
COL4A2	P08572	p.Pro1372Ser	COSM4839241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503457C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp1375Asn	rs368612819	missense variant	-	NC_000013.11:g.110503466G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Phe1378Leu	rs867192113	missense variant	-	NC_000013.11:g.110503477C>A	gnomAD
COL4A2	P08572	p.Ala1381Thr	rs201561499	missense variant	-	NC_000013.11:g.110503849G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1381Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110503850C>T	NCI-TCGA
COL4A2	P08572	p.Pro1382Ser	rs1207619075	missense variant	-	NC_000013.11:g.110503852C>T	TOPMed
COL4A2	P08572	p.Gly1383Arg	rs797044947	missense variant	-	NC_000013.11:g.110503855G>A	-
COL4A2	P08572	p.Gly1383Arg	RCV000190797	missense variant	Inborn genetic diseases	NC_000013.11:g.110503855G>A	ClinVar
COL4A2	P08572	p.Gly1383Arg	RCV000761267	missense variant	Porencephaly 2 (BSVD2)	NC_000013.11:g.110503855G>A	ClinVar
COL4A2	P08572	p.Thr1384Ile	COSM3872849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503859C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Ala1387Asp	rs749680471	missense variant	-	NC_000013.11:g.110503868C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1387Val	rs749680471	missense variant	-	NC_000013.11:g.110503868C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1388Leu	rs371751894	missense variant	-	NC_000013.11:g.110503871C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1388Thr	rs1172869583	missense variant	-	NC_000013.11:g.110503870C>A	gnomAD
COL4A2	P08572	p.Gly1389Arg	VAR_067556	Missense	-	-	UniProt
COL4A2	P08572	p.Ala1391Thr	rs1284610180	missense variant	-	NC_000013.11:g.110503879G>A	TOPMed
COL4A2	P08572	p.Gly1392Glu	COSM3467237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503883G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro1394Ser	COSM2263164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503888C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Gln1395Pro	rs1249033039	missense variant	-	NC_000013.11:g.110503892A>C	gnomAD
COL4A2	P08572	p.Ile1397Phe	rs764867819	missense variant	-	NC_000013.11:g.110503897A>T	ExAC,gnomAD
COL4A2	P08572	p.Ala1398Thr	rs545854852	missense variant	-	NC_000013.11:g.110503900G>A	1000Genomes,ExAC,gnomAD
COL4A2	P08572	p.Val1399Ile	rs45520539	missense variant	-	NC_000013.11:g.110503903G>A	UniProt,dbSNP
COL4A2	P08572	p.Val1399Ile	VAR_067557	missense variant	-	NC_000013.11:g.110503903G>A	UniProt
COL4A2	P08572	p.Val1399Ile	rs45520539	missense variant	-	NC_000013.11:g.110503903G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val1399Ile	RCV000840150	missense variant	-	NC_000013.11:g.110503903G>A	ClinVar
COL4A2	P08572	p.Val1399Ala	COSM266290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503904T>C	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro1401Leu	rs1343956258	missense variant	-	NC_000013.11:g.110503910C>T	gnomAD
COL4A2	P08572	p.Pro1401Ser	rs766197459	missense variant	-	NC_000013.11:g.110503909C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1402Glu	rs1231833905	missense variant	-	NC_000013.11:g.110503913G>A	gnomAD
COL4A2	P08572	p.Thr1403Lys	rs560510434	missense variant	-	NC_000013.11:g.110503916C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val1404Ala	rs1204409034	missense variant	-	NC_000013.11:g.110503919T>C	gnomAD
COL4A2	P08572	p.Pro1406Ser	rs1452839928	missense variant	-	NC_000013.11:g.110503924C>T	gnomAD
COL4A2	P08572	p.Gly1408Glu	rs1245796138	missense variant	-	NC_000013.11:g.110503931G>A	gnomAD
COL4A2	P08572	p.Arg1409Met	COSM4045966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503934G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Arg1410Gln	rs1004346642	missense variant	-	NC_000013.11:g.110503937G>A	TOPMed,gnomAD
COL4A2	P08572	p.Arg1410Ter	rs752813292	stop gained	-	NC_000013.11:g.110503936C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1412Leu	rs777801935	missense variant	-	NC_000013.11:g.110503943C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1412His	rs777801935	missense variant	-	NC_000013.11:g.110503943C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1412Thr	rs939754886	missense variant	-	NC_000013.11:g.110503942C>A	TOPMed
COL4A2	P08572	p.Pro1413Ala	rs746358615	missense variant	-	NC_000013.11:g.110503945C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro1416Leu	rs776279146	missense variant	-	NC_000013.11:g.110503955C>T	ExAC,TOPMed
COL4A2	P08572	p.Pro1416Thr	rs1299518485	missense variant	-	NC_000013.11:g.110503954C>A	gnomAD
COL4A2	P08572	p.Pro1416Ser	rs1299518485	missense variant	-	NC_000013.11:g.110503954C>T	gnomAD
COL4A2	P08572	p.Glu1418Asp	rs772670950	missense variant	-	NC_000013.11:g.110503962G>C	ExAC,gnomAD
COL4A2	P08572	p.Met1419Arg	rs191708663	missense variant	-	NC_000013.11:g.110503964T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Met1419Thr	RCV000317764	missense variant	Porencephalic cyst	NC_000013.11:g.110503964T>C	ClinVar
COL4A2	P08572	p.Met1419Val	RCV000262550	missense variant	Porencephalic cyst	NC_000013.11:g.110503963A>G	ClinVar
COL4A2	P08572	p.Met1419Val	rs531809013	missense variant	-	NC_000013.11:g.110503963A>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Met1419Thr	rs191708663	missense variant	-	NC_000013.11:g.110503964T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1420Val	rs1209947325	missense variant	-	NC_000013.11:g.110503967G>T	gnomAD
COL4A2	P08572	p.Gly1423Ala	rs759437629	missense variant	-	NC_000013.11:g.110503976G>C	ExAC,TOPMed
COL4A2	P08572	p.Gly1423Ala	RCV000478453	missense variant	-	NC_000013.11:g.110503976G>C	ClinVar
COL4A2	P08572	p.Pro1424Leu	rs200966050	missense variant	-	NC_000013.11:g.110503979C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1424Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110503978C>T	NCI-TCGA
COL4A2	P08572	p.Pro1425Ala	rs752758417	missense variant	-	NC_000013.11:g.110503981C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1425His	rs1450481308	missense variant	-	NC_000013.11:g.110503982C>A	TOPMed,gnomAD
COL4A2	P08572	p.Pro1425Ser	rs752758417	missense variant	-	NC_000013.11:g.110503981C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1426ArgPheSerTerUnkUnk	rs34603892	frameshift	-	NC_000013.11:g.110503976_110503977insC	NCI-TCGA,NCI-TCGA Cosmic
COL4A2	P08572	p.Gly1426GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110503977C>-	NCI-TCGA
COL4A2	P08572	p.Glu1427Lys	rs896383260	missense variant	-	NC_000013.11:g.110503987G>A	TOPMed,gnomAD
COL4A2	P08572	p.Glu1427Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.110503987G>T	NCI-TCGA
COL4A2	P08572	p.Pro1428Ala	rs548131143	missense variant	-	NC_000013.11:g.110503990C>G	1000Genomes
COL4A2	P08572	p.Gly1429Arg	rs1370359381	missense variant	-	NC_000013.11:g.110503993G>C	TOPMed
COL4A2	P08572	p.Arg1431His	rs747420947	missense variant	-	NC_000013.11:g.110504154G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1431Cys	rs139124960	missense variant	-	NC_000013.11:g.110504153C>T	gnomAD
COL4A2	P08572	p.Gly1432Arg	rs1201468274	missense variant	-	NC_000013.11:g.110504156G>A	gnomAD
COL4A2	P08572	p.Ala1433Pro	rs777115586	missense variant	-	NC_000013.11:g.110504159G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1433Thr	rs777115586	missense variant	-	NC_000013.11:g.110504159G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1433Gly	rs748895498	missense variant	-	NC_000013.11:g.110504160C>G	ExAC,gnomAD
COL4A2	P08572	p.Gly1438Glu	COSM3467239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110504175G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Pro1439Leu	rs538325329	missense variant	-	NC_000013.11:g.110504178C>T	TOPMed,gnomAD
COL4A2	P08572	p.Pro1439Thr	rs1379081692	missense variant	-	NC_000013.11:g.110504177C>A	gnomAD
COL4A2	P08572	p.Gly1441Glu	COSM5136913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110504184G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly1441Ter	COSM1128421	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110504183G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Val1445Met	rs773933253	missense variant	-	NC_000013.11:g.110504195G>A	ExAC,gnomAD
COL4A2	P08572	p.Val1445Leu	rs773933253	missense variant	-	NC_000013.11:g.110504195G>C	ExAC,gnomAD
COL4A2	P08572	p.Ala1447Pro	rs745552628	missense variant	-	NC_000013.11:g.110504201G>C	ExAC,gnomAD
COL4A2	P08572	p.Val1448Ile	rs771806972	missense variant	-	NC_000013.11:g.110504204G>A	ExAC,gnomAD
COL4A2	P08572	p.Pro1449Thr	rs775404761	missense variant	-	NC_000013.11:g.110504207C>A	ExAC,gnomAD
COL4A2	P08572	p.Pro1449His	rs1302972775	missense variant	-	NC_000013.11:g.110504208C>A	gnomAD
COL4A2	P08572	p.Gly1450Ser	rs1234458228	missense variant	-	NC_000013.11:g.110504210G>A	TOPMed,gnomAD
COL4A2	P08572	p.Phe1451Leu	rs371170690	missense variant	-	NC_000013.11:g.110504213T>C	ESP
COL4A2	P08572	p.Arg1452Trp	rs200481653	missense variant	-	NC_000013.11:g.110504216C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1452Gln	rs766357778	missense variant	-	NC_000013.11:g.110504217G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1453Ter	rs1555333626	stop gained	-	NC_000013.11:g.110504219G>T	-
COL4A2	P08572	p.Gly1453Ter	RCV000513067	nonsense	-	NC_000013.11:g.110504219G>T	ClinVar
COL4A2	P08572	p.Gly1453Ala	rs1351462767	missense variant	-	NC_000013.11:g.110504220G>C	gnomAD
COL4A2	P08572	p.Gly1453Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110504220G>A	NCI-TCGA
COL4A2	P08572	p.Glu1455Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110504225G>A	NCI-TCGA
COL4A2	P08572	p.Ile1458Thr	rs761897034	missense variant	-	NC_000013.11:g.110504235T>C	ExAC,gnomAD
COL4A2	P08572	p.Gly1459Val	rs765414788	missense variant	-	NC_000013.11:g.110504238G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1459Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110504238G>A	NCI-TCGA
COL4A2	P08572	p.Gln1461His	rs201973817	missense variant	-	NC_000013.11:g.110504245G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1463Leu	rs766824658	missense variant	-	NC_000013.11:g.110504250C>T	ExAC,gnomAD
COL4A2	P08572	p.Ile1464Thr	rs751993863	missense variant	-	NC_000013.11:g.110504253T>C	ExAC,gnomAD
COL4A2	P08572	p.Glu1467Gly	rs202207552	missense variant	-	NC_000013.11:g.110504262A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Glu1467Ala	rs202207552	missense variant	-	NC_000013.11:g.110504262A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Glu1467Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110504261G>C	NCI-TCGA
COL4A2	P08572	p.Gly1468Ala	rs1241353532	missense variant	-	NC_000013.11:g.110506415G>C	gnomAD
COL4A2	P08572	p.Ala1469Thr	rs1336056932	missense variant	-	NC_000013.11:g.110506417G>A	TOPMed
COL4A2	P08572	p.Ala1469Val	rs1484844637	missense variant	-	NC_000013.11:g.110506418C>T	gnomAD
COL4A2	P08572	p.Pro1470Leu	rs1183593059	missense variant	-	NC_000013.11:g.110506421C>T	gnomAD
COL4A2	P08572	p.Pro1470Thr	rs1182910012	missense variant	-	NC_000013.11:g.110506420C>A	TOPMed,gnomAD
COL4A2	P08572	p.Arg1472Cys	rs779703009	missense variant	-	NC_000013.11:g.110506426C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1472His	rs368014743	missense variant	-	NC_000013.11:g.110506427G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1474Arg	rs1441702164	missense variant	-	NC_000013.11:g.110506432G>A	TOPMed
COL4A2	P08572	p.Gly1474Glu	rs1413761550	missense variant	-	NC_000013.11:g.110506433G>A	gnomAD
COL4A2	P08572	p.Pro1476Leu	rs768460810	missense variant	-	NC_000013.11:g.110506439C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1479Ser	rs748071531	missense variant	-	NC_000013.11:g.110506447C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro1479Leu	RCV000277848	missense variant	Porencephalic cyst	NC_000013.11:g.110506448C>T	ClinVar
COL4A2	P08572	p.Pro1479Leu	rs377115391	missense variant	-	NC_000013.11:g.110506448C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Met1481Val	rs763183089	missense variant	-	NC_000013.11:g.110506453A>G	ExAC,gnomAD
COL4A2	P08572	p.Pro1482Leu	rs770926546	missense variant	-	NC_000013.11:g.110506457C>T	ExAC,gnomAD
COL4A2	P08572	p.Pro1482Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110506456C>A	NCI-TCGA
COL4A2	P08572	p.Gly1483Asp	rs912915196	missense variant	-	NC_000013.11:g.110506460G>A	gnomAD
COL4A2	P08572	p.Gly1483Arg	rs774564238	missense variant	-	NC_000013.11:g.110506459G>C	ExAC,gnomAD
COL4A2	P08572	p.Arg1484His	rs767902568	missense variant	-	NC_000013.11:g.110506463G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1484Cys	rs189639861	missense variant	-	NC_000013.11:g.110506462C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser1485Cys	rs753103440	missense variant	-	NC_000013.11:g.110506465A>T	ExAC,gnomAD
COL4A2	P08572	p.Ser1485Ile	rs761168539	missense variant	-	NC_000013.11:g.110506466G>T	ExAC
COL4A2	P08572	p.Val1486Gly	rs754359533	missense variant	-	NC_000013.11:g.110506469T>G	ExAC,gnomAD
COL4A2	P08572	p.Val1486Ile	rs201426733	missense variant	-	NC_000013.11:g.110506468G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val1486Ile	RCV000332995	missense variant	Porencephalic cyst	NC_000013.11:g.110506468G>A	ClinVar
COL4A2	P08572	p.Val1486Ala	rs754359533	missense variant	-	NC_000013.11:g.110506469T>C	ExAC,gnomAD
COL4A2	P08572	p.Ile1488Val	rs376670424	missense variant	-	NC_000013.11:g.110506474A>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1489Asp	rs1025762255	missense variant	-	NC_000013.11:g.110506478G>A	TOPMed,gnomAD
COL4A2	P08572	p.Gly1489Ser	rs760682735	missense variant	-	NC_000013.11:g.110506477G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Tyr1490Ter	rs201082622	stop gained	-	NC_000013.11:g.110506482C>A	ExAC,gnomAD
COL4A2	P08572	p.Tyr1490His	rs781007619	missense variant	-	NC_000013.11:g.110506480T>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Leu1491Pro	rs777792779	missense variant	-	NC_000013.11:g.110506484T>C	ExAC,gnomAD
COL4A2	P08572	p.Leu1491Phe	rs1339941004	missense variant	-	NC_000013.11:g.110506483C>T	TOPMed
COL4A2	P08572	p.Leu1492Gln	COSM4924169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110506487T>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Lys1494Met	rs1414768740	missense variant	-	NC_000013.11:g.110506493A>T	gnomAD
COL4A2	P08572	p.Ser1496Thr	rs201790726	missense variant	-	NC_000013.11:g.110506499G>C	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln1497Arg	rs1443114367	missense variant	-	NC_000013.11:g.110506502A>G	gnomAD
COL4A2	P08572	p.Thr1498Met	rs771002365	missense variant	-	NC_000013.11:g.110506505C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln1500Arg	rs772251017	missense variant	-	NC_000013.11:g.110506511A>G	ExAC,gnomAD
COL4A2	P08572	p.Gln1500Glu	rs746072214	missense variant	-	NC_000013.11:g.110506510C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1502Leu	rs775820945	missense variant	-	NC_000013.11:g.110506517C>T	ExAC,gnomAD
COL4A2	P08572	p.Met1503Leu	rs760974648	missense variant	-	NC_000013.11:g.110506519A>C	ExAC,gnomAD
COL4A2	P08572	p.Met1503Thr	rs764449751	missense variant	-	NC_000013.11:g.110506520T>C	ExAC,gnomAD
COL4A2	P08572	p.Pro1505Leu	rs777086508	missense variant	-	NC_000013.11:g.110506526C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1507Asp	rs1468887976	missense variant	-	NC_000013.11:g.110506532G>A	gnomAD
COL4A2	P08572	p.Met1508Ile	COSM1365458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110506536G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Trp1512Arg	rs200314049	missense variant	-	NC_000013.11:g.110506546T>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Trp1512Ter	rs751067625	stop gained	-	NC_000013.11:g.110506547G>A	ExAC,gnomAD
COL4A2	P08572	p.Trp1512Leu	rs751067625	missense variant	-	NC_000013.11:g.110506547G>T	ExAC,gnomAD
COL4A2	P08572	p.Ser1513Asn	rs1264516110	missense variant	-	NC_000013.11:g.110506550G>A	TOPMed
COL4A2	P08572	p.Glu1521Gln	rs182278784	missense variant	-	NC_000013.11:g.110506573G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Glu1521Lys	RCV000293231	missense variant	Porencephalic cyst	NC_000013.11:g.110506573G>A	ClinVar
COL4A2	P08572	p.Glu1521Lys	rs182278784	missense variant	-	NC_000013.11:g.110506573G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1522Asp	rs749216552	missense variant	-	NC_000013.11:g.110506577G>A	ExAC,gnomAD
COL4A2	P08572	p.Ala1526Val	rs757182846	missense variant	-	NC_000013.11:g.110506589C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asn1528Ser	rs376782255	missense variant	-	NC_000013.11:g.110506595A>G	ESP,TOPMed,gnomAD
COL4A2	P08572	p.Gln1529Ter	rs1216560732	stop gained	-	NC_000013.11:g.110506597C>T	TOPMed
COL4A2	P08572	p.Gln1529Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110506597C>A	NCI-TCGA
COL4A2	P08572	p.Asp1530Glu	rs1317279885	missense variant	-	NC_000013.11:g.110506602C>G	TOPMed
COL4A2	P08572	p.Leu1533Pro	rs771658901	missense variant	-	NC_000013.11:g.110507938T>C	ExAC,gnomAD
COL4A2	P08572	p.Ala1534Ser	rs760399386	missense variant	-	NC_000013.11:g.110507940G>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1534Val	rs763898774	missense variant	-	NC_000013.11:g.110507941C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1534Thr	rs760399386	missense variant	-	NC_000013.11:g.110507940G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1535Asp	rs568049102	missense variant	-	NC_000013.11:g.110507944G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Cys1537Tyr	rs1316147309	missense variant	-	NC_000013.11:g.110507950G>A	gnomAD
COL4A2	P08572	p.Leu1538Val	rs1341684474	missense variant	-	NC_000013.11:g.110507952C>G	gnomAD
COL4A2	P08572	p.Ala1539Val	rs765114159	missense variant	-	NC_000013.11:g.110507956C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1540Trp	rs375976442	missense variant	-	NC_000013.11:g.110507958C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1540Gln	rs368863212	missense variant	-	NC_000013.11:g.110507959G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Phe1541Leu	rs201158095	missense variant	-	NC_000013.11:g.110507963C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser1542Asn	rs1287472634	missense variant	-	NC_000013.11:g.110507965G>A	gnomAD
COL4A2	P08572	p.Thr1543Ile	rs372092879	missense variant	-	NC_000013.11:g.110507968C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asn1550Asp	rs1486671980	missense variant	-	NC_000013.11:g.110507988A>G	gnomAD
COL4A2	P08572	p.Asn1550Ser	rs1188711710	missense variant	-	NC_000013.11:g.110507989A>G	gnomAD
COL4A2	P08572	p.Pro1551Leu	rs1474345987	missense variant	-	NC_000013.11:g.110507992C>T	gnomAD
COL4A2	P08572	p.Pro1551Ala	rs781210303	missense variant	-	NC_000013.11:g.110507991C>G	ExAC,gnomAD
COL4A2	P08572	p.Pro1551Thr	COSM945369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110507991C>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly1552Val	rs770012202	missense variant	-	NC_000013.11:g.110507995G>T	ExAC,gnomAD
COL4A2	P08572	p.Asp1553His	rs1452815964	missense variant	-	NC_000013.11:g.110507997G>C	gnomAD
COL4A2	P08572	p.Tyr1556Cys	rs1367879331	missense variant	-	NC_000013.11:g.110508007A>G	gnomAD
COL4A2	P08572	p.Tyr1557MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.110508009T>-	NCI-TCGA
COL4A2	P08572	p.Ala1558Thr	rs1435315524	missense variant	-	NC_000013.11:g.110508012G>A	gnomAD
COL4A2	P08572	p.Ala1558Val	rs374790851	missense variant	-	NC_000013.11:g.110508013C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1560Gln	rs1411209661	missense variant	-	NC_000013.11:g.110508019G>A	TOPMed,gnomAD
COL4A2	P08572	p.Arg1560Trp	rs1353098387	missense variant	-	NC_000013.11:g.110508018C>T	TOPMed,gnomAD
COL4A2	P08572	p.Arg1560Trp	RCV000498178	missense variant	-	NC_000013.11:g.110508018C>T	ClinVar
COL4A2	P08572	p.Asn1561Lys	rs368443057	missense variant	-	NC_000013.11:g.110508023C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asp1562Asn	rs771634327	missense variant	-	NC_000013.11:g.110508024G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys1563Arg	rs1238821561	missense variant	-	NC_000013.11:g.110508028A>G	gnomAD
COL4A2	P08572	p.Ser1564Tyr	rs775127177	missense variant	-	NC_000013.11:g.110508031C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Tyr1565Cys	rs768286758	missense variant	-	NC_000013.11:g.110508034A>G	ExAC,gnomAD
COL4A2	P08572	p.Tyr1565His	rs760207140	missense variant	-	NC_000013.11:g.110508033T>C	ExAC,gnomAD
COL4A2	P08572	p.Thr1569Ala	rs1394231981	missense variant	-	NC_000013.11:g.110508045A>G	TOPMed
COL4A2	P08572	p.Ala1571Val	rs201300563	missense variant	-	NC_000013.11:g.110508052C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1571Gly	COSM945370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110508052C>G	NCI-TCGA Cosmic
COL4A2	P08572	p.Met1575Thr	rs762869561	missense variant	-	NC_000013.11:g.110508064T>C	ExAC,gnomAD
COL4A2	P08572	p.Met1576Ile	rs1396717078	missense variant	-	NC_000013.11:g.110508068G>A	gnomAD
COL4A2	P08572	p.Pro1577Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110508069C>T	NCI-TCGA
COL4A2	P08572	p.Val1578Met	rs376052562	missense variant	-	NC_000013.11:g.110508072G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1579Thr	rs898618662	missense variant	-	NC_000013.11:g.110508075G>A	TOPMed
COL4A2	P08572	p.Glu1580Lys	rs767665017	missense variant	-	NC_000013.11:g.110508078G>A	ExAC,gnomAD
COL4A2	P08572	p.Glu1580Gln	COSM6138539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110508078G>C	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp1581Asn	rs373615754	missense variant	-	NC_000013.11:g.110508081G>A	ESP,ExAC,gnomAD
COL4A2	P08572	p.Glu1582Lys	rs376636910	missense variant	-	NC_000013.11:g.110508084G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys1584Gln	rs749729146	missense variant	-	NC_000013.11:g.110508090A>C	ExAC,gnomAD
COL4A2	P08572	p.Pro1585Arg	rs557976330	missense variant	-	NC_000013.11:g.110508094C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1585Ser	rs1373650840	missense variant	-	NC_000013.11:g.110508093C>T	gnomAD
COL4A2	P08572	p.Pro1585Thr	COSM945372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110508093C>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Ile1587Thr	rs779497458	missense variant	-	NC_000013.11:g.110508100T>C	ExAC,gnomAD
COL4A2	P08572	p.Arg1589Cys	rs768005452	missense variant	-	NC_000013.11:g.110508105C>T	ExAC,gnomAD
COL4A2	P08572	p.Arg1589His	rs776257191	missense variant	-	NC_000013.11:g.110508106G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser1591Cys	rs569625788	missense variant	-	NC_000013.11:g.110508112C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Val1592Ala	rs769552339	missense variant	-	NC_000013.11:g.110508115T>C	ExAC,gnomAD
COL4A2	P08572	p.Pro1596Ser	rs766164837	missense variant	-	NC_000013.11:g.110508126C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1596Leu	rs774230815	missense variant	-	NC_000013.11:g.110508127C>T	ExAC,gnomAD
COL4A2	P08572	p.Ile1598Phe	rs374339847	missense variant	-	NC_000013.11:g.110508132A>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ile1598Val	rs374339847	missense variant	-	NC_000013.11:g.110508132A>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1599Thr	rs752861934	missense variant	-	NC_000013.11:g.110508135G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1601Val	rs754118201	missense variant	-	NC_000013.11:g.110508142C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1601Thr	rs764320185	missense variant	-	NC_000013.11:g.110508141G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.His1603Asn	rs779445980	missense variant	-	NC_000013.11:g.110508147C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln1605His	rs746358473	missense variant	-	NC_000013.11:g.110508155G>C	ExAC,gnomAD
COL4A2	P08572	p.Gln1605His	RCV000761861	missense variant	-	NC_000013.11:g.110508155G>C	ClinVar
COL4A2	P08572	p.Ser1608Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110508163C>T	NCI-TCGA
COL4A2	P08572	p.Ile1609Met	rs758988255	missense variant	-	NC_000013.11:g.110508167C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1610Ser	rs377451586	missense variant	-	NC_000013.11:g.110508168C>T	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1610Leu	rs1275313652	missense variant	-	NC_000013.11:g.110508169C>T	gnomAD
COL4A2	P08572	p.Ala1614Val	rs574412120	missense variant	-	NC_000013.11:g.110508181C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1614Asp	rs574412120	missense variant	-	NC_000013.11:g.110508181C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1617Gln	rs748967769	missense variant	-	NC_000013.11:g.110508190G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1617Trp	rs1486800811	missense variant	-	NC_000013.11:g.110508189C>T	TOPMed,gnomAD
COL4A2	P08572	p.Arg1617Gln	RCV000485539	missense variant	-	NC_000013.11:g.110508190G>A	ClinVar
COL4A2	P08572	p.Ile1621Met	rs770662096	missense variant	-	NC_000013.11:g.110508203C>G	ExAC,gnomAD
COL4A2	P08572	p.Ile1621Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110508202T>G	NCI-TCGA
COL4A2	P08572	p.Gly1622Arg	rs541766007	missense variant	-	NC_000013.11:g.110508204G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Met1627Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110508219A>G	NCI-TCGA
COL4A2	P08572	p.Thr1629Met	rs762126668	missense variant	-	NC_000013.11:g.110511938C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1630Val	rs750683535	missense variant	-	NC_000013.11:g.110511941C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1631Val	rs201495557	missense variant	-	NC_000013.11:g.110511944C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1632Glu	COSM3467241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110511947G>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Asp1633Gly	rs1409172276	missense variant	-	NC_000013.11:g.110511950A>G	TOPMed
COL4A2	P08572	p.Glu1634Lys	rs1234289971	missense variant	-	NC_000013.11:g.110511952G>A	TOPMed,gnomAD
COL4A2	P08572	p.Gly1636Ser	rs753412782	missense variant	-	NC_000013.11:g.110511958G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gln1638Arg	rs1257324899	missense variant	-	NC_000013.11:g.110511965A>G	TOPMed
COL4A2	P08572	p.Ser1639Leu	rs77786415	missense variant	-	NC_000013.11:g.110511968C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser1639Pro	rs756772866	missense variant	-	NC_000013.11:g.110511967T>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser1639Leu	RCV000354257	missense variant	Porencephalic cyst	NC_000013.11:g.110511968C>T	ClinVar
COL4A2	P08572	p.Leu1640Val	rs745538920	missense variant	-	NC_000013.11:g.110511970C>G	ExAC,gnomAD
COL4A2	P08572	p.Val1641Met	rs1376093675	missense variant	-	NC_000013.11:g.110511973G>A	gnomAD
COL4A2	P08572	p.Pro1643Leu	rs200681591	missense variant	-	NC_000013.11:g.110511980C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1643Arg	rs200681591	missense variant	-	NC_000013.11:g.110511980C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1643Ser	rs1434216422	missense variant	-	NC_000013.11:g.110511979C>T	gnomAD
COL4A2	P08572	p.Gly1644Asp	rs754860447	missense variant	-	NC_000013.11:g.110511983G>A	ExAC,gnomAD
COL4A2	P08572	p.Arg1651Cys	rs569071842	missense variant	-	NC_000013.11:g.110512003C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1651His	rs769994500	missense variant	-	NC_000013.11:g.110512004G>A	ExAC,gnomAD
COL4A2	P08572	p.Arg1651Leu	COSM4045967	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110512004G>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Ala1652Thr	rs763103910	missense variant	-	NC_000013.11:g.110512006G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr1653Pro	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110512009A>C	NCI-TCGA
COL4A2	P08572	p.Glu1657Lys	rs1232600556	missense variant	-	NC_000013.11:g.110512021G>A	gnomAD
COL4A2	P08572	p.Glu1657Ala	rs768069575	missense variant	-	NC_000013.11:g.110512022A>C	ExAC
COL4A2	P08572	p.Asn1659Thr	rs756717766	missense variant	-	NC_000013.11:g.110512028A>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Asn1659His	rs753207768	missense variant	-	NC_000013.11:g.110512027A>C	ExAC
COL4A2	P08572	p.Asn1659Ser	rs756717766	missense variant	-	NC_000013.11:g.110512028A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1661Ser	rs373806617	missense variant	-	NC_000013.11:g.110512033G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1662Cys	rs746842146	missense variant	-	NC_000013.11:g.110512036C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1662Gly	rs746842146	missense variant	-	NC_000013.11:g.110512036C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1662His	rs200192119	missense variant	-	NC_000013.11:g.110512037G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1662Ser	rs746842146	missense variant	-	NC_000013.11:g.110512036C>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1662His	RCV000369382	missense variant	Porencephalic cyst	NC_000013.11:g.110512037G>A	ClinVar
COL4A2	P08572	p.Gly1663Ser	rs12877501	missense variant	-	NC_000013.11:g.110512039G>A	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1663Ala	rs771126631	missense variant	-	NC_000013.11:g.110512040G>C	ExAC,gnomAD
COL4A2	P08572	p.Gly1663Arg	rs12877501	missense variant	-	NC_000013.11:g.110512039G>C	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Gly1663Ser	RCV000274759	missense variant	Porencephalic cyst	NC_000013.11:g.110512039G>A	ClinVar
COL4A2	P08572	p.Gly1663Asp	rs771126631	missense variant	-	NC_000013.11:g.110512040G>A	ExAC,gnomAD
COL4A2	P08572	p.Thr1664Pro	rs199702442	missense variant	-	NC_000013.11:g.110512042A>C	ExAC,gnomAD
COL4A2	P08572	p.His1666Arg	rs761217889	missense variant	-	NC_000013.11:g.110512049A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Tyr1668Cys	rs749965555	missense variant	-	NC_000013.11:g.110512055A>G	ExAC,gnomAD
COL4A2	P08572	p.Ala1669Pro	rs199959120	missense variant	-	NC_000013.11:g.110512057G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1669Thr	rs199959120	missense variant	-	NC_000013.11:g.110512057G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser1673Thr	rs754784235	missense variant	-	NC_000013.11:g.110512070G>C	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ser1673Thr	RCV000585157	missense variant	-	NC_000013.11:g.110512070G>C	ClinVar
COL4A2	P08572	p.Phe1674Leu	rs1254083898	missense variant	-	NC_000013.11:g.110512074C>A	gnomAD
COL4A2	P08572	p.Trp1675Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.110512076G>A	NCI-TCGA
COL4A2	P08572	p.Thr1677Pro	rs1451528719	missense variant	-	NC_000013.11:g.110512081A>C	gnomAD
COL4A2	P08572	p.Thr1678Ile	rs201647127	missense variant	-	NC_000013.11:g.110512085C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr1678Ala	rs1352195646	missense variant	-	NC_000013.11:g.110512084A>G	TOPMed,gnomAD
COL4A2	P08572	p.Ile1679Thr	rs1243856152	missense variant	-	NC_000013.11:g.110512088T>C	gnomAD
COL4A2	P08572	p.Pro1680Thr	rs1475794097	missense variant	-	NC_000013.11:g.110512090C>A	gnomAD
COL4A2	P08572	p.Pro1680Ser	COSM3872852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110512090C>T	NCI-TCGA Cosmic
COL4A2	P08572	p.Glu1681Gln	rs756162551	missense variant	-	NC_000013.11:g.110512093G>C	ExAC,gnomAD
COL4A2	P08572	p.Glu1681Gly	rs777905652	missense variant	-	NC_000013.11:g.110512094A>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Glu1681Lys	rs756162551	missense variant	-	NC_000013.11:g.110512093G>A	ExAC,gnomAD
COL4A2	P08572	p.Gln1682Glu	rs374574952	missense variant	-	NC_000013.11:g.110512096C>G	ESP,gnomAD
COL4A2	P08572	p.Ser1683Arg	rs771057435	missense variant	-	NC_000013.11:g.110512101C>A	ExAC,gnomAD
COL4A2	P08572	p.Phe1684Leu	COSM3467243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110512104C>A	NCI-TCGA Cosmic
COL4A2	P08572	p.Gly1686Ser	rs778961988	missense variant	-	NC_000013.11:g.110512108G>A	ExAC,gnomAD
COL4A2	P08572	p.Gly1686Asp	rs1326455391	missense variant	-	NC_000013.11:g.110512109G>A	gnomAD
COL4A2	P08572	p.Ser1687Leu	rs746110125	missense variant	-	NC_000013.11:g.110512112C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Pro1688Leu	rs775870410	missense variant	-	NC_000013.11:g.110512115C>T	ExAC,gnomAD
COL4A2	P08572	p.Ser1689Phe	rs761162868	missense variant	-	NC_000013.11:g.110512118C>T	ExAC,gnomAD
COL4A2	P08572	p.Ala1690Ser	rs201105747	missense variant	Hemorrhage, intracerebral, susceptibility to (ich)	NC_000013.11:g.110512120G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1690Thr	RCV000022471	missense variant	Hemorrhage, intracerebral, susceptibility to (ICH)	NC_000013.11:g.110512120G>A	ClinVar
COL4A2	P08572	p.Ala1690Thr	rs201105747	missense variant	Hemorrhage, intracerebral, susceptibility to (ich)	NC_000013.11:g.110512120G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Ala1690Thr	rs201105747	missense variant	-	NC_000013.11:g.110512120G>A	UniProt,dbSNP
COL4A2	P08572	p.Ala1690Thr	VAR_067558	missense variant	-	NC_000013.11:g.110512120G>A	UniProt
COL4A2	P08572	p.Asp1691Asn	rs751211461	missense variant	-	NC_000013.11:g.110512123G>A	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr1692Met	rs759315132	missense variant	-	NC_000013.11:g.110512127C>T	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Thr1692Arg	rs759315132	missense variant	-	NC_000013.11:g.110512127C>G	ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Lys1694Glu	rs1476309830	missense variant	-	NC_000013.11:g.110512132A>G	gnomAD
COL4A2	P08572	p.Lys1694Thr	rs1188934162	missense variant	-	NC_000013.11:g.110512133A>C	gnomAD
COL4A2	P08572	p.Gly1696Ser	rs202178258	missense variant	-	NC_000013.11:g.110512138G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Arg1699His	rs746056606	missense variant	-	NC_000013.11:g.110512148G>A	ExAC,gnomAD
COL4A2	P08572	p.Arg1699Cys	rs779097251	missense variant	-	NC_000013.11:g.110512147C>T	ExAC,gnomAD
COL4A2	P08572	p.Arg1699Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110512147C>G	NCI-TCGA
COL4A2	P08572	p.His1701Leu	rs1295802932	missense variant	-	NC_000013.11:g.110512154A>T	gnomAD
COL4A2	P08572	p.His1701Gln	rs772344537	missense variant	-	NC_000013.11:g.110512155C>A	ExAC,gnomAD
COL4A2	P08572	p.Ile1702Val	rs1414956363	missense variant	-	NC_000013.11:g.110512156A>G	gnomAD
COL4A2	P08572	p.Ile1702Met	rs1187912620	missense variant	-	NC_000013.11:g.110512158C>G	gnomAD
COL4A2	P08572	p.Ile1702Phe	rs1414956363	missense variant	-	NC_000013.11:g.110512156A>T	gnomAD
COL4A2	P08572	p.Arg1704Cys	rs780380833	missense variant	-	NC_000013.11:g.110512162C>T	ExAC,gnomAD
COL4A2	P08572	p.Arg1704Leu	rs747313370	missense variant	-	NC_000013.11:g.110512163G>T	ExAC,gnomAD
COL4A2	P08572	p.Arg1704His	rs747313370	missense variant	-	NC_000013.11:g.110512163G>A	ExAC,gnomAD
COL4A2	P08572	p.Arg1704Leu	RCV000326433	missense variant	Porencephalic cyst	NC_000013.11:g.110512163G>T	ClinVar
COL4A2	P08572	p.Gln1706Ter	rs1318875867	stop gained	-	NC_000013.11:g.110512168C>T	TOPMed
COL4A2	P08572	p.ValCysMetLysAsnLeuTer1707ValUnk	rs1280406576	stop lost	-	NC_000013.11:g.110512174_110512190del	TOPMed
COL4A2	P08572	p.Val1707Glu	rs1221898224	missense variant	-	NC_000013.11:g.110512172T>A	TOPMed
COL4A2	P08572	p.Met1709Val	rs370681819	missense variant	-	NC_000013.11:g.110512177A>G	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Met1709Leu	rs370681819	missense variant	-	NC_000013.11:g.110512177A>C	ESP,ExAC,TOPMed,gnomAD
COL4A2	P08572	p.Met1709Ile	rs1302375476	missense variant	-	NC_000013.11:g.110512179G>A	TOPMed
COL4A2	P08572	p.Asn1711Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.110512184A>G	NCI-TCGA
COL4A2	P08572	p.Leu1712Val	rs1281691864	missense variant	-	NC_000013.11:g.110512186C>G	TOPMed,gnomAD
COL4A2	P08572	p.Ter1713GlyGluUnkThrTerUnkUnk	NCI-TCGA novel	stop lost	-	NC_000013.11:g.110512189T>G	NCI-TCGA
ITGA5	P08648	p.Arg4Pro	rs748286038	missense variant	-	NC_000012.12:g.54419188C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg4Trp	rs772245737	missense variant	-	NC_000012.12:g.54419189G>A	ExAC,gnomAD
ITGA5	P08648	p.Arg4Gln	rs748286038	missense variant	-	NC_000012.12:g.54419188C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr5Pro	rs779513466	missense variant	-	NC_000012.12:g.54419186T>G	ExAC,gnomAD
ITGA5	P08648	p.Thr5Ala	rs779513466	missense variant	-	NC_000012.12:g.54419186T>C	ExAC,gnomAD
ITGA5	P08648	p.Glu7Gly	rs1245591566	missense variant	-	NC_000012.12:g.54419179T>C	gnomAD
ITGA5	P08648	p.Glu7Gln	rs754165800	missense variant	-	NC_000012.12:g.54419180C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu7Lys	rs754165800	missense variant	-	NC_000012.12:g.54419180C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro9Ser	rs1317256796	missense variant	-	NC_000012.12:g.54419174G>A	gnomAD
ITGA5	P08648	p.Pro9Leu	rs1310133503	missense variant	-	NC_000012.12:g.54419173G>A	TOPMed
ITGA5	P08648	p.His11Asn	rs756561516	missense variant	-	NC_000012.12:g.54419168G>T	ExAC,gnomAD
ITGA5	P08648	p.Ala12Val	rs751210140	missense variant	-	NC_000012.12:g.54419164G>A	ExAC,gnomAD
ITGA5	P08648	p.Ala12Asp	rs751210140	missense variant	-	NC_000012.12:g.54419164G>T	ExAC,gnomAD
ITGA5	P08648	p.Val13Met	rs762430573	missense variant	-	NC_000012.12:g.54419162C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val13Leu	rs762430573	missense variant	-	NC_000012.12:g.54419162C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val13Leu	rs762430573	missense variant	-	NC_000012.12:g.54419162C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln14His	rs1013290694	missense variant	-	NC_000012.12:g.54419157C>A	TOPMed,gnomAD
ITGA5	P08648	p.Arg16Pro	rs752230652	missense variant	-	NC_000012.12:g.54419152C>G	ExAC,gnomAD
ITGA5	P08648	p.Arg16His	rs752230652	missense variant	-	NC_000012.12:g.54419152C>T	ExAC,gnomAD
ITGA5	P08648	p.Arg16Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54419153G>T	NCI-TCGA
ITGA5	P08648	p.Trp17Ter	rs1442401460	stop gained	-	NC_000012.12:g.54419148C>T	gnomAD
ITGA5	P08648	p.Pro19Leu	rs1183693939	missense variant	-	NC_000012.12:g.54419143G>A	TOPMed,gnomAD
ITGA5	P08648	p.Arg20Trp	rs759400458	missense variant	-	NC_000012.12:g.54419141G>A	ExAC,gnomAD
ITGA5	P08648	p.Arg20Gln	rs1248288542	missense variant	-	NC_000012.12:g.54419140C>T	gnomAD
ITGA5	P08648	p.Arg21Pro	rs776684780	missense variant	-	NC_000012.12:g.54419137C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg21Gly	rs1178929621	missense variant	-	NC_000012.12:g.54419138G>C	gnomAD
ITGA5	P08648	p.Arg22Gln	rs1046427679	missense variant	-	NC_000012.12:g.54419134C>T	TOPMed,gnomAD
ITGA5	P08648	p.Pro23Ala	rs1258490777	missense variant	-	NC_000012.12:g.54419132G>C	TOPMed
ITGA5	P08648	p.Pro24Arg	rs1475685300	missense variant	-	NC_000012.12:g.54419128G>C	TOPMed
ITGA5	P08648	p.Leu28Pro	rs1293976872	missense variant	-	NC_000012.12:g.54419116A>G	gnomAD
ITGA5	P08648	p.Pro34Gln	rs756815283	missense variant	-	NC_000012.12:g.54419098G>T	ExAC
ITGA5	P08648	p.Pro34Leu	rs756815283	missense variant	-	NC_000012.12:g.54419098G>A	ExAC
ITGA5	P08648	p.Pro34Ser	rs532930597	missense variant	-	NC_000012.12:g.54419099G>A	1000Genomes,ExAC
ITGA5	P08648	p.Pro34Leu	rs756815283	missense variant	-	NC_000012.12:g.54419098G>A	NCI-TCGA,NCI-TCGA Cosmic
ITGA5	P08648	p.Pro36Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54419093G>A	NCI-TCGA
ITGA5	P08648	p.Pro37Thr	rs748198005	missense variant	-	NC_000012.12:g.54419090G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro37Arg	rs774577323	missense variant	-	NC_000012.12:g.54419089G>C	ExAC,gnomAD
ITGA5	P08648	p.Pro37Ser	rs748198005	missense variant	-	NC_000012.12:g.54419090G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg38Gly	rs1414979719	missense variant	-	NC_000012.12:g.54419087T>C	TOPMed
ITGA5	P08648	p.Val39Ile	rs565466460	missense variant	-	NC_000012.12:g.54419084C>T	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Gly41Val	rs1361619039	missense variant	-	NC_000012.12:g.54419077C>A	gnomAD
ITGA5	P08648	p.Phe42Tyr	rs1216744549	missense variant	-	NC_000012.12:g.54419074A>T	TOPMed
ITGA5	P08648	p.Asn43Ser	rs756404824	missense variant	-	NC_000012.12:g.54419071T>C	ExAC,gnomAD
ITGA5	P08648	p.Asp45His	rs1274314376	missense variant	-	NC_000012.12:g.54419066C>G	TOPMed
ITGA5	P08648	p.Asp45Glu	rs746283646	missense variant	-	NC_000012.12:g.54419064G>C	ExAC,gnomAD
ITGA5	P08648	p.Ala46Val	rs1489908412	missense variant	-	NC_000012.12:g.54419062G>A	NCI-TCGA
ITGA5	P08648	p.Ala46Val	rs1489908412	missense variant	-	NC_000012.12:g.54419062G>A	gnomAD
ITGA5	P08648	p.Glu47Gln	rs1271274842	missense variant	-	NC_000012.12:g.54419060C>G	gnomAD
ITGA5	P08648	p.Ala48Thr	rs1210728595	missense variant	-	NC_000012.12:g.54419057C>T	gnomAD
ITGA5	P08648	p.Pro49Leu	rs1312160243	missense variant	-	NC_000012.12:g.54419053G>A	TOPMed
ITGA5	P08648	p.Leu52Phe	rs1259046401	missense variant	-	NC_000012.12:g.54419045G>A	gnomAD
ITGA5	P08648	p.Ser53Leu	rs1241735133	missense variant	-	NC_000012.12:g.54419041G>A	TOPMed,gnomAD
ITGA5	P08648	p.Pro56Leu	rs777360125	missense variant	-	NC_000012.12:g.54419032G>A	NCI-TCGA,NCI-TCGA Cosmic
ITGA5	P08648	p.Pro56Leu	rs777360125	missense variant	-	NC_000012.12:g.54419032G>A	ExAC,gnomAD
ITGA5	P08648	p.Pro56Arg	rs777360125	missense variant	-	NC_000012.12:g.54419032G>C	ExAC,gnomAD
ITGA5	P08648	p.Gly57Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54419030C>G	NCI-TCGA
ITGA5	P08648	p.Ser63Thr	rs1323791495	missense variant	-	NC_000012.12:g.54419012A>T	gnomAD
ITGA5	P08648	p.Glu65Gln	rs752140892	missense variant	-	NC_000012.12:g.54419006C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Tyr67Cys	rs1159807796	missense variant	-	NC_000012.12:g.54418999T>C	gnomAD
ITGA5	P08648	p.Pro69Ser	rs753684798	missense variant	-	NC_000012.12:g.54418994G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro69Ala	rs753684798	missense variant	-	NC_000012.12:g.54418994G>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro69Gln	rs766387454	missense variant	-	NC_000012.12:g.54418993G>T	ExAC,gnomAD
ITGA5	P08648	p.Gly70Glu	rs773172483	missense variant	-	NC_000012.12:g.54418990C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly70Ala	rs773172483	missense variant	-	NC_000012.12:g.54418990C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly70Val	rs773172483	missense variant	-	NC_000012.12:g.54418990C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr71Lys	rs1420117629	missense variant	-	NC_000012.12:g.54418987G>T	TOPMed
ITGA5	P08648	p.Asp72Glu	rs1199774231	missense variant	-	NC_000012.12:g.54418983G>C	TOPMed,gnomAD
ITGA5	P08648	p.Asp72Glu	rs1199774231	missense variant	-	NC_000012.12:g.54418983G>T	TOPMed,gnomAD
ITGA5	P08648	p.Asp72Ala	rs767781201	missense variant	-	NC_000012.12:g.54418984T>G	ExAC,gnomAD
ITGA5	P08648	p.Gly73Glu	rs986381316	missense variant	-	NC_000012.12:g.54418981C>T	TOPMed
ITGA5	P08648	p.Gly73Ala	rs986381316	missense variant	-	NC_000012.12:g.54418981C>G	TOPMed
ITGA5	P08648	p.Gly73Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54418982C>T	NCI-TCGA
ITGA5	P08648	p.Val74Ile	rs760018225	missense variant	-	NC_000012.12:g.54411963C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val74Phe	rs760018225	missense variant	-	NC_000012.12:g.54411963C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser75Asn	rs201444911	missense variant	-	NC_000012.12:g.54411959C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val76CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.54411957C>-	NCI-TCGA
ITGA5	P08648	p.Leu77Pro	rs1405908317	missense variant	-	NC_000012.12:g.54411953A>G	TOPMed
ITGA5	P08648	p.Val78Met	rs747446975	missense variant	-	NC_000012.12:g.54411951C>T	ExAC,gnomAD
ITGA5	P08648	p.Gly79Glu	COSM3871968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54411947C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Gly79Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54411948C>G	NCI-TCGA
ITGA5	P08648	p.Ala80Ser	rs1181774677	missense variant	-	NC_000012.12:g.54411945C>A	gnomAD
ITGA5	P08648	p.Thr85Ser	rs1275562523	missense variant	-	NC_000012.12:g.54411930T>A	gnomAD
ITGA5	P08648	p.Ser86Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54411925G>T	NCI-TCGA
ITGA5	P08648	p.Pro88Ser	rs1205361407	missense variant	-	NC_000012.12:g.54411921G>A	gnomAD
ITGA5	P08648	p.Gly89Glu	rs1358317493	missense variant	-	NC_000012.12:g.54411917C>T	gnomAD
ITGA5	P08648	p.Gln92Ter	rs1288913750	stop gained	-	NC_000012.12:g.54411909G>A	gnomAD
ITGA5	P08648	p.Ala95Val	rs1015301287	missense variant	-	NC_000012.12:g.54411899G>A	TOPMed
ITGA5	P08648	p.Ala95Gly	rs1015301287	missense variant	-	NC_000012.12:g.54411899G>C	TOPMed
ITGA5	P08648	p.Val96Ile	rs1381604337	missense variant	-	NC_000012.12:g.54411897C>T	TOPMed
ITGA5	P08648	p.Val96Gly	rs1446190217	missense variant	-	NC_000012.12:g.54411896A>C	TOPMed
ITGA5	P08648	p.Pro100Ser	rs779724499	missense variant	-	NC_000012.12:g.54411885G>A	ExAC,gnomAD
ITGA5	P08648	p.Pro100Arg	rs755743936	missense variant	-	NC_000012.12:g.54411884G>C	ExAC,gnomAD
ITGA5	P08648	p.Trp101Arg	rs200580175	missense variant	-	NC_000012.12:g.54411882A>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Trp101Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54411880C>A	NCI-TCGA
ITGA5	P08648	p.Gly102Asp	rs1337240088	missense variant	-	NC_000012.12:g.54411878C>T	gnomAD
ITGA5	P08648	p.Gly102Cys	rs781319766	missense variant	-	NC_000012.12:g.54411879C>A	ExAC,gnomAD
ITGA5	P08648	p.Pro105Leu	rs1410611893	missense variant	-	NC_000012.12:g.54411869G>A	gnomAD
ITGA5	P08648	p.Pro105Thr	rs1308424437	missense variant	-	NC_000012.12:g.54411870G>T	TOPMed,gnomAD
ITGA5	P08648	p.Cys108Phe	rs757098110	missense variant	-	NC_000012.12:g.54411860C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro110Leu	rs1161943591	missense variant	-	NC_000012.12:g.54411854G>A	gnomAD
ITGA5	P08648	p.Glu112Ter	rs1414693264	stop gained	-	NC_000012.12:g.54411849C>A	gnomAD
ITGA5	P08648	p.Ser115Gly	rs751394538	missense variant	-	NC_000012.12:g.54411840T>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser115Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54411839C>T	NCI-TCGA
ITGA5	P08648	p.Lys116Arg	rs1440912539	missense variant	-	NC_000012.12:g.54411836T>C	TOPMed
ITGA5	P08648	p.Ser118Ala	rs752963953	missense variant	-	NC_000012.12:g.54409595A>C	ExAC,gnomAD
ITGA5	P08648	p.Arg119Trp	rs1428702198	missense variant	-	NC_000012.12:g.54409592G>A	gnomAD
ITGA5	P08648	p.Ser124Pro	rs753921333	missense variant	-	NC_000012.12:g.54409577A>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Leu125Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54409574G>T	NCI-TCGA
ITGA5	P08648	p.Ser126Pro	COSM1476708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54409571A>G	NCI-TCGA Cosmic
ITGA5	P08648	p.Ser126Thr	rs1371606256	missense variant	-	NC_000012.12:g.54409571A>T	TOPMed
ITGA5	P08648	p.Ser128Pro	rs766834020	missense variant	-	NC_000012.12:g.54409565A>G	ExAC,gnomAD
ITGA5	P08648	p.Gly130Arg	rs1178716961	missense variant	-	NC_000012.12:g.54409559C>G	gnomAD
ITGA5	P08648	p.Gly130Arg	rs1178716961	missense variant	-	NC_000012.12:g.54409559C>T	gnomAD
ITGA5	P08648	p.Glu131Asp	rs944011782	missense variant	-	NC_000012.12:g.54409554C>G	TOPMed,gnomAD
ITGA5	P08648	p.Pro133Ser	rs1277257673	missense variant	-	NC_000012.12:g.54409550G>A	TOPMed
ITGA5	P08648	p.Val134Met	rs761267579	missense variant	-	NC_000012.12:g.54409547C>T	ExAC,gnomAD
ITGA5	P08648	p.Gln140His	rs1418312231	missense variant	-	NC_000012.12:g.54409527C>A	gnomAD
ITGA5	P08648	p.Phe142Leu	rs767892459	missense variant	-	NC_000012.12:g.54409521G>C	ExAC
ITGA5	P08648	p.Phe142Ser	rs773641721	missense variant	-	NC_000012.12:g.54409522A>G	ExAC,gnomAD
ITGA5	P08648	p.Thr145Ala	rs762150829	missense variant	-	NC_000012.12:g.54409514T>C	ExAC,gnomAD
ITGA5	P08648	p.Arg147Gly	rs775266866	missense variant	-	NC_000012.12:g.54409508G>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg147Ter	rs775266866	stop gained	-	NC_000012.12:g.54409508G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.His149Arg	rs769582305	missense variant	-	NC_000012.12:g.54409501T>C	ExAC,gnomAD
ITGA5	P08648	p.Gly150Asp	rs776309549	missense variant	-	NC_000012.12:g.54409498C>T	ExAC,gnomAD
ITGA5	P08648	p.Ser151Phe	rs770721790	missense variant	-	NC_000012.12:g.54409495G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ile153Val	rs1213100859	missense variant	-	NC_000012.12:g.54409490T>C	gnomAD
ITGA5	P08648	p.Ile153Ser	rs746939357	missense variant	-	NC_000012.12:g.54409489A>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala155Val	rs200931801	missense variant	-	NC_000012.12:g.54409351G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Cys156Trp	rs142802486	missense variant	-	NC_000012.12:g.54409347G>C	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala157Thr	rs1438946889	missense variant	-	NC_000012.12:g.54409346C>T	TOPMed
ITGA5	P08648	p.Pro158Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54409343G>A	NCI-TCGA
ITGA5	P08648	p.Arg163Ser	rs773147106	missense variant	-	NC_000012.12:g.54409328G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg163His	rs771911348	missense variant	-	NC_000012.12:g.54409327C>T	ExAC,gnomAD
ITGA5	P08648	p.Arg163Cys	rs773147106	missense variant	-	NC_000012.12:g.54409328G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Lys166Ter	rs778703752	stop gained	-	NC_000012.12:g.54409319T>A	ExAC,gnomAD
ITGA5	P08648	p.Glu167Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54409315T>C	NCI-TCGA
ITGA5	P08648	p.Pro168AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.54409313_54409314insC	NCI-TCGA
ITGA5	P08648	p.Ser170Arg	rs371880807	missense variant	-	NC_000012.12:g.54409305G>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser170Gly	rs1487541984	missense variant	-	NC_000012.12:g.54409307T>C	gnomAD
ITGA5	P08648	p.Val173Met	rs1316863597	missense variant	-	NC_000012.12:g.54409298C>T	gnomAD
ITGA5	P08648	p.Thr175Ile	rs749481271	missense variant	-	NC_000012.12:g.54409291G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr175Asn	rs749481271	missense variant	-	NC_000012.12:g.54409291G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Leu178Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54409283G>A	NCI-TCGA
ITGA5	P08648	p.Thr180Ile	rs1351554056	missense variant	-	NC_000012.12:g.54409276G>A	gnomAD
ITGA5	P08648	p.Thr180Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54409276G>C	NCI-TCGA
ITGA5	P08648	p.Thr180Ala	rs954670614	missense variant	-	NC_000012.12:g.54409277T>C	gnomAD
ITGA5	P08648	p.Asp181His	rs368421506	missense variant	-	NC_000012.12:g.54409274C>G	ESP,ExAC,TOPMed
ITGA5	P08648	p.Asp181Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54409274C>T	NCI-TCGA
ITGA5	P08648	p.Thr184Ile	rs756204088	missense variant	-	NC_000012.12:g.54409264G>A	ExAC,gnomAD
ITGA5	P08648	p.Thr184Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54409265T>C	NCI-TCGA
ITGA5	P08648	p.Arg185Gln	rs540145150	missense variant	-	NC_000012.12:g.54409261C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg185Ter	rs1392186563	stop gained	-	NC_000012.12:g.54409262G>A	gnomAD
ITGA5	P08648	p.Ile186Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54409259T>C	NCI-TCGA
ITGA5	P08648	p.Leu187Val	rs781673750	missense variant	-	NC_000012.12:g.54409256G>C	ExAC,gnomAD
ITGA5	P08648	p.Tyr189Cys	COSM3462810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54409249T>C	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg193Cys	rs764527950	missense variant	-	NC_000012.12:g.54409238G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg193Ser	rs764527950	missense variant	-	NC_000012.12:g.54409238G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln202Ter	COSM6072877	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54408934G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Cys205Gly	rs1465763390	missense variant	-	NC_000012.12:g.54408925A>C	gnomAD
ITGA5	P08648	p.Ala211Thr	rs1199065438	missense variant	-	NC_000012.12:g.54408907C>T	gnomAD
ITGA5	P08648	p.Glu212Lys	rs200109874	missense variant	-	NC_000012.12:g.54408904C>T	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Thr214Ser	rs1226321834	missense variant	-	NC_000012.12:g.54408897G>C	gnomAD
ITGA5	P08648	p.Thr216Ala	rs779127269	missense variant	-	NC_000012.12:g.54408801T>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr216Asn	rs1483139559	missense variant	-	NC_000012.12:g.54408800G>T	gnomAD
ITGA5	P08648	p.Arg218Cys	rs750041084	missense variant	-	NC_000012.12:g.54408795G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg218His	rs767216349	missense variant	-	NC_000012.12:g.54408794C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val219Ala	rs756697620	missense variant	-	NC_000012.12:g.54408791A>G	ExAC,gnomAD
ITGA5	P08648	p.Gly222Ser	rs961253111	missense variant	-	NC_000012.12:g.54408783C>T	TOPMed
ITGA5	P08648	p.Gly223Glu	rs1327963720	missense variant	-	NC_000012.12:g.54408779C>T	gnomAD
ITGA5	P08648	p.Gly225Glu	COSM3871967	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54408773C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Ser226Asn	rs751073061	missense variant	-	NC_000012.12:g.54408770C>T	ExAC,gnomAD
ITGA5	P08648	p.Tyr227Phe	rs1231747637	missense variant	-	NC_000012.12:g.54408767T>A	TOPMed
ITGA5	P08648	p.Phe228Tyr	rs762819303	missense variant	-	NC_000012.12:g.54408764A>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln238Arg	rs1229193206	missense variant	-	NC_000012.12:g.54408214T>C	gnomAD
ITGA5	P08648	p.Glu239Asp	rs765273691	missense variant	-	NC_000012.12:g.54408210C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu239Lys	rs1166134765	missense variant	-	NC_000012.12:g.54408212C>T	TOPMed,gnomAD
ITGA5	P08648	p.Glu239Asp	rs765273691	missense variant	-	NC_000012.12:g.54408210C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ile241Thr	rs1273334557	missense variant	-	NC_000012.12:g.54408205A>G	gnomAD
ITGA5	P08648	p.Ile241Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54408205A>T	NCI-TCGA
ITGA5	P08648	p.Ala242Val	rs1483399544	missense variant	-	NC_000012.12:g.54408202G>A	TOPMed
ITGA5	P08648	p.Glu243Gly	rs891311982	missense variant	-	NC_000012.12:g.54408199T>C	TOPMed
ITGA5	P08648	p.Ser244Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54408197A>T	NCI-TCGA
ITGA5	P08648	p.Tyr245Ser	rs759191087	missense variant	-	NC_000012.12:g.54408193T>G	ExAC,gnomAD
ITGA5	P08648	p.Tyr246Cys	COSM4043203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54408190T>C	NCI-TCGA Cosmic
ITGA5	P08648	p.Pro247Leu	rs1418963370	missense variant	-	NC_000012.12:g.54408187G>A	gnomAD
ITGA5	P08648	p.Glu248Ter	COSM6137255	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54408185C>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Glu248Lys	rs776603186	missense variant	-	NC_000012.12:g.54408185C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu248Asp	rs766662163	missense variant	-	NC_000012.12:g.54408183C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asn252Ser	rs773610424	missense variant	-	NC_000012.12:g.54408172T>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val254Ile	rs772042372	missense variant	-	NC_000012.12:g.54408167C>T	ExAC,gnomAD
ITGA5	P08648	p.Val254Ala	rs1422596897	missense variant	-	NC_000012.12:g.54408166A>G	gnomAD
ITGA5	P08648	p.Gln257His	rs1192627710	missense variant	-	NC_000012.12:g.54408156C>A	gnomAD
ITGA5	P08648	p.Gln257Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.54408158G>A	NCI-TCGA
ITGA5	P08648	p.Leu258Arg	rs748317329	missense variant	-	NC_000012.12:g.54408154A>C	ExAC,gnomAD
ITGA5	P08648	p.Gln259His	rs374695746	missense variant	-	NC_000012.12:g.54408150C>G	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr260Ala	rs769209056	missense variant	-	NC_000012.12:g.54408149T>C	ExAC,gnomAD
ITGA5	P08648	p.Arg261Pro	COSM3462809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54408145C>G	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg261Cys	rs1052054299	missense variant	-	NC_000012.12:g.54408146G>A	-
ITGA5	P08648	p.Arg261His	rs1466212812	missense variant	-	NC_000012.12:g.54408145C>T	TOPMed,gnomAD
ITGA5	P08648	p.Ala263Asp	rs770191932	missense variant	-	NC_000012.12:g.54408139G>T	ExAC,gnomAD
ITGA5	P08648	p.Ser264Ile	rs746631100	missense variant	-	NC_000012.12:g.54408136C>A	ExAC,gnomAD
ITGA5	P08648	p.Ser264Asn	rs746631100	missense variant	-	NC_000012.12:g.54408136C>T	ExAC,gnomAD
ITGA5	P08648	p.Ile266Asn	rs936558713	missense variant	-	NC_000012.12:g.54408130A>T	gnomAD
ITGA5	P08648	p.Ile266Val	rs1296994426	missense variant	-	NC_000012.12:g.54408131T>C	gnomAD
ITGA5	P08648	p.Tyr267His	rs757828604	missense variant	-	NC_000012.12:g.54408128A>G	ExAC,gnomAD
ITGA5	P08648	p.Tyr267Phe	rs1321868106	missense variant	-	NC_000012.12:g.54408127T>A	gnomAD
ITGA5	P08648	p.Tyr274Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.54407872G>T	NCI-TCGA
ITGA5	P08648	p.Ser275Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54407870G>A	NCI-TCGA
ITGA5	P08648	p.Val278Gly	rs76021453	missense variant	-	NC_000012.12:g.54407861A>C	ExAC,gnomAD
ITGA5	P08648	p.Val278Asp	rs76021453	missense variant	-	NC_000012.12:g.54407861A>T	ExAC,gnomAD
ITGA5	P08648	p.Val278Ile	rs747566068	missense variant	-	NC_000012.12:g.54407862C>T	ExAC,gnomAD
ITGA5	P08648	p.Ser282Asn	rs368634534	missense variant	-	NC_000012.12:g.54407849C>T	ESP,TOPMed,gnomAD
ITGA5	P08648	p.Gly283Val	rs753824600	missense variant	-	NC_000012.12:g.54407846C>A	ExAC
ITGA5	P08648	p.Asp284Val	rs150405444	missense variant	-	NC_000012.12:g.54407843T>A	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu287Asp	rs1234258665	missense variant	-	NC_000012.12:g.54407833T>G	gnomAD
ITGA5	P08648	p.Asp288Gly	rs777079894	missense variant	-	NC_000012.12:g.54407692T>C	ExAC,gnomAD
ITGA5	P08648	p.Asp288Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54407692T>A	NCI-TCGA
ITGA5	P08648	p.Ala291Thr	rs747807757	missense variant	-	NC_000012.12:g.54407684C>T	ExAC,gnomAD
ITGA5	P08648	p.Lys295Arg	rs1300226248	missense variant	-	NC_000012.12:g.54407671T>C	gnomAD
ITGA5	P08648	p.Gly296Trp	rs773944533	missense variant	-	NC_000012.12:g.54407669C>A	ExAC
ITGA5	P08648	p.Thr299Ile	rs529704616	missense variant	-	NC_000012.12:g.54407659G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Tyr300AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.54407655_54407658GTAA>-	NCI-TCGA
ITGA5	P08648	p.Gly301Ser	rs756150386	missense variant	-	NC_000012.12:g.54407654C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Tyr302Ter	rs1161138536	stop gained	-	NC_000012.12:g.54407649A>C	gnomAD
ITGA5	P08648	p.Tyr302Cys	rs557409701	missense variant	-	NC_000012.12:g.54407650T>C	gnomAD
ITGA5	P08648	p.Val303Phe	COSM694651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405926C>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Val303Ile	rs746789231	missense variant	-	NC_000012.12:g.54405926C>T	ExAC,gnomAD
ITGA5	P08648	p.Val303Leu	rs746789231	missense variant	-	NC_000012.12:g.54405926C>G	ExAC,gnomAD
ITGA5	P08648	p.Leu306Phe	rs138865109	missense variant	-	NC_000012.12:g.54405917G>A	ESP
ITGA5	P08648	p.Asn307Lys	rs758646702	missense variant	-	NC_000012.12:g.54405912A>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly308Cys	rs1226991858	missense variant	-	NC_000012.12:g.54405911C>A	gnomAD
ITGA5	P08648	p.Ile311Val	rs1299725724	missense variant	-	NC_000012.12:g.54405902T>C	gnomAD
ITGA5	P08648	p.Arg312Gln	rs200642938	missense variant	-	NC_000012.12:g.54405898C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser313Tyr	rs1004911071	missense variant	-	NC_000012.12:g.54405895G>T	TOPMed
ITGA5	P08648	p.Ser313Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54405895G>A	NCI-TCGA
ITGA5	P08648	p.Leu314Phe	rs564976660	missense variant	-	NC_000012.12:g.54405893G>A	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Tyr315Ter	rs961019735	stop gained	-	NC_000012.12:g.54405888G>T	TOPMed
ITGA5	P08648	p.Tyr315Ter	rs961019735	stop gained	-	NC_000012.12:g.54405888G>C	TOPMed
ITGA5	P08648	p.Asn316Ser	rs755121607	missense variant	-	NC_000012.12:g.54405886T>C	ExAC,gnomAD
ITGA5	P08648	p.Phe317Leu	COSM281994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405882G>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Phe317Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54405884A>C	NCI-TCGA
ITGA5	P08648	p.Glu320Ter	COSM3462806	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54405875C>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Glu320Lys	COSM3462807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405875C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Glu320Gln	rs761036310	missense variant	-	NC_000012.12:g.54405875C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Met322Thr	rs1337864027	missense variant	-	NC_000012.12:g.54405715A>G	TOPMed
ITGA5	P08648	p.Phe326Tyr	rs1443415832	missense variant	-	NC_000012.12:g.54405703A>T	TOPMed
ITGA5	P08648	p.Ala329Thr	rs1210718966	missense variant	-	NC_000012.12:g.54405695C>T	gnomAD
ITGA5	P08648	p.Ala332Thr	rs375602887	missense variant	-	NC_000012.12:g.54405686C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr333Ile	rs751015509	missense variant	-	NC_000012.12:g.54405682G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr333Ala	rs1180932291	missense variant	-	NC_000012.12:g.54405683T>C	gnomAD
ITGA5	P08648	p.Val335Ile	rs762335174	missense variant	-	NC_000012.12:g.54405677C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asn336Ser	rs752382903	missense variant	-	NC_000012.12:g.54405673T>C	ExAC,gnomAD
ITGA5	P08648	p.Gly339Arg	rs141341610	missense variant	-	NC_000012.12:g.54405665C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Leu340Met	rs1159305654	missense variant	-	NC_000012.12:g.54405373G>T	gnomAD
ITGA5	P08648	p.Asp341Gly	rs202050846	missense variant	-	NC_000012.12:g.54405369T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asp342Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54405367C>T	NCI-TCGA
ITGA5	P08648	p.Val345Leu	rs185000546	missense variant	-	NC_000012.12:g.54405358C>A	1000Genomes
ITGA5	P08648	p.Ala347Val	rs765804292	missense variant	-	NC_000012.12:g.54405351G>A	ExAC,gnomAD
ITGA5	P08648	p.Met351Ile	COSM3462805	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405338C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Asp352Asn	rs1301500930	missense variant	-	NC_000012.12:g.54405337C>T	TOPMed
ITGA5	P08648	p.Arg353Trp	COSM3462804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405334G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg353Gln	rs897973104	missense variant	-	NC_000012.12:g.54405333C>T	gnomAD
ITGA5	P08648	p.Thr354Asn	rs1276822907	missense variant	-	NC_000012.12:g.54405330G>T	gnomAD
ITGA5	P08648	p.Pro355Leu	rs761556901	missense variant	-	NC_000012.12:g.54405327G>A	ExAC,gnomAD
ITGA5	P08648	p.Pro355Ser	rs767447537	missense variant	-	NC_000012.12:g.54405328G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly357Glu	rs146614663	missense variant	-	NC_000012.12:g.54405321C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly357Arg	rs768546640	missense variant	-	NC_000012.12:g.54405322C>T	ExAC,gnomAD
ITGA5	P08648	p.Arg358Gln	rs769749826	missense variant	-	NC_000012.12:g.54405318C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg358Trp	rs775846363	missense variant	-	NC_000012.12:g.54405319G>A	ExAC,gnomAD
ITGA5	P08648	p.Pro359Ser	COSM3462803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405316G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Val362Leu	rs781735339	missense variant	-	NC_000012.12:g.54405307C>A	ExAC,gnomAD
ITGA5	P08648	p.Val362Ala	rs1389013565	missense variant	-	NC_000012.12:g.54405306A>G	TOPMed,gnomAD
ITGA5	P08648	p.Arg364Lys	COSM3871966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405300C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg364Gly	rs371089429	missense variant	-	NC_000012.12:g.54405301T>C	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val365Phe	rs1419913852	missense variant	-	NC_000012.12:g.54405298C>A	gnomAD
ITGA5	P08648	p.Val367Ile	rs949081104	missense variant	-	NC_000012.12:g.54405292C>T	TOPMed,gnomAD
ITGA5	P08648	p.Val367Ala	rs777974256	missense variant	-	NC_000012.12:g.54405291A>G	ExAC,TOPMed
ITGA5	P08648	p.Val367Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54405292C>A	NCI-TCGA
ITGA5	P08648	p.Gln370Lys	rs1199711064	missense variant	-	NC_000012.12:g.54405283G>T	TOPMed
ITGA5	P08648	p.His371Pro	rs758868135	missense variant	-	NC_000012.12:g.54405279T>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly374Ser	rs377645220	missense variant	-	NC_000012.12:g.54405271C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ile375Val	rs767394205	missense variant	-	NC_000012.12:g.54405268T>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu376Gln	rs761718645	missense variant	-	NC_000012.12:g.54405265C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu376Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54405263C>G	NCI-TCGA
ITGA5	P08648	p.Pro377Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54405262G>A	NCI-TCGA
ITGA5	P08648	p.Thr378Met	rs773645556	missense variant	-	NC_000012.12:g.54405258G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro379Thr	rs1305670758	missense variant	-	NC_000012.12:g.54405256G>T	TOPMed,gnomAD
ITGA5	P08648	p.Pro379Ser	rs1305670758	missense variant	-	NC_000012.12:g.54405256G>A	TOPMed,gnomAD
ITGA5	P08648	p.Leu381Phe	COSM3462801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405250G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Thr382Ile	rs770056058	missense variant	-	NC_000012.12:g.54405246G>A	ExAC,gnomAD
ITGA5	P08648	p.Thr382Ser	rs554050434	missense variant	-	NC_000012.12:g.54405247T>A	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Leu383Val	rs745899382	missense variant	-	NC_000012.12:g.54405244G>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.His386Tyr	rs1251415166	missense variant	-	NC_000012.12:g.54405235G>A	gnomAD
ITGA5	P08648	p.Asp387Asn	rs776870697	missense variant	-	NC_000012.12:g.54405232C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asp387His	rs776870697	missense variant	-	NC_000012.12:g.54405232C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Phe389Cys	COSM941142	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54405225A>C	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg391Ter	rs771180802	stop gained	-	NC_000012.12:g.54405220G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg391Gln	rs747517291	missense variant	-	NC_000012.12:g.54405219C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Phe392Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54405217A>C	NCI-TCGA
ITGA5	P08648	p.Ser394Thr	rs778404382	missense variant	-	NC_000012.12:g.54405210C>G	ExAC,gnomAD
ITGA5	P08648	p.Ser395Phe	rs758635941	missense variant	-	NC_000012.12:g.54405207G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro398Leu	rs1233480219	missense variant	-	NC_000012.12:g.54405198G>A	TOPMed,gnomAD
ITGA5	P08648	p.Pro398Ser	rs748554174	missense variant	-	NC_000012.12:g.54405199G>A	ExAC,gnomAD
ITGA5	P08648	p.Leu399TrpPheSerTerUnkUnk	COSM1362789	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54405196G>-	NCI-TCGA Cosmic
ITGA5	P08648	p.Leu399Gln	rs755787249	missense variant	-	NC_000012.12:g.54405195A>T	ExAC,gnomAD
ITGA5	P08648	p.Leu399Val	rs779533134	missense variant	-	NC_000012.12:g.54405196G>C	ExAC,gnomAD
ITGA5	P08648	p.Gly400Arg	rs200132643	missense variant	-	NC_000012.12:g.54405193C>T	1000Genomes
ITGA5	P08648	p.Gly400Glu	rs750126955	missense variant	-	NC_000012.12:g.54405192C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Leu402Val	rs766985360	missense variant	-	NC_000012.12:g.54405187G>C	ExAC,gnomAD
ITGA5	P08648	p.Asp403Gly	rs751437693	missense variant	-	NC_000012.12:g.54405183T>C	ExAC,gnomAD
ITGA5	P08648	p.Asp405Asn	rs578020993	missense variant	-	NC_000012.12:g.54405178C>T	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Gly406Ser	rs752563644	missense variant	-	NC_000012.12:g.54405175C>T	ExAC,gnomAD
ITGA5	P08648	p.Tyr407Cys	rs1420884339	missense variant	-	NC_000012.12:g.54405171T>C	TOPMed,gnomAD
ITGA5	P08648	p.Asn408Ser	rs759806937	missense variant	-	NC_000012.12:g.54405168T>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asn408Asp	rs200918284	missense variant	-	NC_000012.12:g.54405169T>C	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ile412Val	rs780879525	missense variant	-	NC_000012.12:g.54404886T>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly413Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54404883C>A	NCI-TCGA
ITGA5	P08648	p.Ala414Ser	rs202005757	missense variant	-	NC_000012.12:g.54404880C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro415Ser	rs991567246	missense variant	-	NC_000012.12:g.54404877G>A	gnomAD
ITGA5	P08648	p.Pro415Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54404876G>A	NCI-TCGA
ITGA5	P08648	p.Gly417Val	rs1206487389	missense variant	-	NC_000012.12:g.54404870C>A	gnomAD
ITGA5	P08648	p.Gly417Cys	rs1260111085	missense variant	-	NC_000012.12:g.54404871C>A	gnomAD
ITGA5	P08648	p.Glu419Gly	rs1255104003	missense variant	-	NC_000012.12:g.54404864T>C	gnomAD
ITGA5	P08648	p.Thr420Pro	rs1231427923	missense variant	-	NC_000012.12:g.54404862T>G	gnomAD
ITGA5	P08648	p.Gln421Glu	rs538916711	missense variant	-	NC_000012.12:g.54404859G>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln421Lys	rs538916711	missense variant	-	NC_000012.12:g.54404859G>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln422ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.54404856G>-	NCI-TCGA
ITGA5	P08648	p.Val424Glu	rs1324416410	missense variant	-	NC_000012.12:g.54404849A>T	TOPMed,gnomAD
ITGA5	P08648	p.Phe426Leu	rs571620637	missense variant	-	NC_000012.12:g.54404844A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Phe426Val	rs571620637	missense variant	-	NC_000012.12:g.54404844A>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val427Ile	rs200940770	missense variant	-	NC_000012.12:g.54404841C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro429His	COSM941141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404834G>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Pro429Ala	rs754058815	missense variant	-	NC_000012.12:g.54404835G>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro429Ser	rs754058815	missense variant	-	NC_000012.12:g.54404835G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly430Glu	COSM3871965	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404831C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Gly431Val	rs1432938028	missense variant	-	NC_000012.12:g.54404828C>A	gnomAD
ITGA5	P08648	p.Gly433Glu	rs1216639356	missense variant	-	NC_000012.12:g.54404822C>T	TOPMed
ITGA5	P08648	p.Gly434Glu	rs766717100	missense variant	-	NC_000012.12:g.54404819C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Leu435Val	rs370690822	missense variant	-	NC_000012.12:g.54404817G>C	ESP,TOPMed
ITGA5	P08648	p.Gly436Asp	rs760636583	missense variant	-	NC_000012.12:g.54404813C>T	ExAC,gnomAD
ITGA5	P08648	p.Ser440Ala	rs772093582	missense variant	-	NC_000012.12:g.54404802A>C	ExAC,gnomAD
ITGA5	P08648	p.Gln441His	rs762352251	missense variant	-	NC_000012.12:g.54404797C>G	ExAC,gnomAD
ITGA5	P08648	p.Val442Leu	rs774907143	missense variant	-	NC_000012.12:g.54404796C>G	ExAC,gnomAD
ITGA5	P08648	p.Gln444Pro	rs531610716	missense variant	-	NC_000012.12:g.54404789T>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala448Val	rs749665079	missense variant	-	NC_000012.12:g.54404777G>A	ExAC,gnomAD
ITGA5	P08648	p.Ala449Val	rs1204298444	missense variant	-	NC_000012.12:g.54404774G>A	gnomAD
ITGA5	P08648	p.His451Asn	rs1337329610	missense variant	-	NC_000012.12:g.54404769G>T	gnomAD
ITGA5	P08648	p.Pro453Gln	rs770600915	missense variant	-	NC_000012.12:g.54404762G>T	ExAC,gnomAD
ITGA5	P08648	p.Pro453Ser	rs149010571	missense variant	-	NC_000012.12:g.54404763G>A	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asp454Asn	rs1478252930	missense variant	-	NC_000012.12:g.54404760C>T	TOPMed
ITGA5	P08648	p.Asp454Gly	rs990076461	missense variant	-	NC_000012.12:g.54404759T>C	TOPMed,gnomAD
ITGA5	P08648	p.Phe455Leu	rs1313527376	missense variant	-	NC_000012.12:g.54404755G>C	gnomAD
ITGA5	P08648	p.Phe455Ile	rs777310978	missense variant	-	NC_000012.12:g.54404757A>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Phe456Leu	rs757883584	missense variant	-	NC_000012.12:g.54404754A>G	ExAC,gnomAD
ITGA5	P08648	p.Gly457Val	COSM941140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404750C>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Gly457Asp	COSM3416963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404750C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Gly457Ser	rs752673751	missense variant	-	NC_000012.12:g.54404751C>T	ExAC,gnomAD
ITGA5	P08648	p.Leu460Phe	rs779009829	missense variant	-	NC_000012.12:g.54404742G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg461Gln	rs376218631	missense variant	-	NC_000012.12:g.54404738C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg461Ter	rs754755879	stop gained	-	NC_000012.12:g.54404739G>A	ExAC,gnomAD
ITGA5	P08648	p.Gly462Glu	COSM5375507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404735C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Gly462Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54404736C>T	NCI-TCGA
ITGA5	P08648	p.Arg464Gln	rs181020771	missense variant	-	NC_000012.12:g.54404729C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asp465Tyr	COSM3812443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404727C>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Asp467Asn	COSM3462795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404721C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Gly468Val	rs1180795787	missense variant	-	NC_000012.12:g.54404717C>A	gnomAD
ITGA5	P08648	p.Gly470Glu	COSM3462794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54404711C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Gly470Arg	rs767632353	missense variant	-	NC_000012.12:g.54404712C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Tyr471Cys	rs774780283	missense variant	-	NC_000012.12:g.54404708T>C	ExAC,gnomAD
ITGA5	P08648	p.Tyr471His	rs1196310720	missense variant	-	NC_000012.12:g.54404709A>G	gnomAD
ITGA5	P08648	p.Pro472Thr	rs190077327	missense variant	-	NC_000012.12:g.54404706G>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro472Ala	rs190077327	missense variant	-	NC_000012.12:g.54404706G>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro472Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54404706G>A	NCI-TCGA
ITGA5	P08648	p.Asp473Glu	rs201235779	missense variant	-	NC_000012.12:g.54404474A>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Leu474Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54404473G>C	NCI-TCGA
ITGA5	P08648	p.Ile475Thr	rs577974426	missense variant	-	NC_000012.12:g.54404469A>G	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Ser478Pro	rs779964082	missense variant	-	NC_000012.12:g.54404461A>G	ExAC,gnomAD
ITGA5	P08648	p.Phe479Ser	rs1256171820	missense variant	-	NC_000012.12:g.54404457A>G	TOPMed
ITGA5	P08648	p.Gly480Arg	rs1007830118	missense variant	-	NC_000012.12:g.54404455C>G	TOPMed
ITGA5	P08648	p.Lys483Asn	rs1251117971	missense variant	-	NC_000012.12:g.54404444C>G	TOPMed,gnomAD
ITGA5	P08648	p.Ala484Ser	rs750645934	missense variant	-	NC_000012.12:g.54404443C>A	ExAC,gnomAD
ITGA5	P08648	p.Ala484Val	rs1335315221	missense variant	-	NC_000012.12:g.54404442G>A	gnomAD
ITGA5	P08648	p.Val485Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54404440C>G	NCI-TCGA
ITGA5	P08648	p.Gly489Ser	rs1363778532	missense variant	-	NC_000012.12:g.54404245C>T	TOPMed
ITGA5	P08648	p.Arg490His	rs779915783	missense variant	-	NC_000012.12:g.54404241C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg490Leu	rs779915783	missense variant	-	NC_000012.12:g.54404241C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg490Cys	rs749234827	missense variant	-	NC_000012.12:g.54404242G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro491Ala	rs377096524	missense variant	-	NC_000012.12:g.54404239G>C	ESP,gnomAD
ITGA5	P08648	p.Pro491Leu	rs755882971	missense variant	-	NC_000012.12:g.54404238G>A	ExAC,gnomAD
ITGA5	P08648	p.Val493Leu	rs373708305	missense variant	-	NC_000012.12:g.54404233C>A	ESP,ExAC,gnomAD
ITGA5	P08648	p.Val493Met	rs373708305	missense variant	-	NC_000012.12:g.54404233C>T	ESP,ExAC,gnomAD
ITGA5	P08648	p.Ala495Thr	rs112896207	missense variant	-	NC_000012.12:g.54404227C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser496Asn	rs1388337288	missense variant	-	NC_000012.12:g.54404223C>T	TOPMed
ITGA5	P08648	p.Leu499Phe	rs147794441	missense variant	-	NC_000012.12:g.54404215G>A	ESP,ExAC,gnomAD
ITGA5	P08648	p.Thr500Ile	rs1418769615	missense variant	-	NC_000012.12:g.54404211G>A	gnomAD
ITGA5	P08648	p.Ile501Val	rs754180687	missense variant	-	NC_000012.12:g.54404209T>C	ExAC,gnomAD
ITGA5	P08648	p.Phe502Ser	rs1038472130	missense variant	-	NC_000012.12:g.54404205A>G	-
ITGA5	P08648	p.Pro503Leu	rs1476305227	missense variant	-	NC_000012.12:g.54404202G>A	gnomAD
ITGA5	P08648	p.Ala504Thr	rs181997225	missense variant	-	NC_000012.12:g.54404200C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala504ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.54404201G>-	NCI-TCGA
ITGA5	P08648	p.Met505Val	rs144338335	missense variant	-	NC_000012.12:g.54404197T>C	ESP,TOPMed,gnomAD
ITGA5	P08648	p.Met505Thr	rs774217332	missense variant	-	NC_000012.12:g.54404196A>G	ExAC,gnomAD
ITGA5	P08648	p.Arg511Gln	rs762568472	missense variant	-	NC_000012.12:g.54404178C>T	ExAC,gnomAD
ITGA5	P08648	p.Arg511Trp	rs527756302	missense variant	-	NC_000012.12:g.54404179G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Cys513Tyr	rs1213172870	missense variant	-	NC_000012.12:g.54404172C>T	TOPMed,gnomAD
ITGA5	P08648	p.Cys513Ter	rs1364527383	stop gained	-	NC_000012.12:g.54404171G>T	gnomAD
ITGA5	P08648	p.Ser514Ile	rs1270352532	missense variant	-	NC_000012.12:g.54404169C>A	gnomAD
ITGA5	P08648	p.Leu515Ser	rs370538855	missense variant	-	NC_000012.12:g.54404166A>G	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly517Arg	rs769647340	missense variant	-	NC_000012.12:g.54404161C>T	ExAC,gnomAD
ITGA5	P08648	p.Asn518His	rs936061380	missense variant	-	NC_000012.12:g.54404158T>G	TOPMed
ITGA5	P08648	p.Asn518Ser	rs1314150572	missense variant	-	NC_000012.12:g.54404157T>C	gnomAD
ITGA5	P08648	p.Ala521Gly	rs1434856549	missense variant	-	NC_000012.12:g.54404148G>C	gnomAD
ITGA5	P08648	p.Cys522Ser	rs1192197386	missense variant	-	NC_000012.12:g.54404145C>G	TOPMed
ITGA5	P08648	p.Ile523Thr	rs1424409978	missense variant	-	NC_000012.12:g.54403964A>G	gnomAD
ITGA5	P08648	p.Ser526Thr	rs770698753	missense variant	-	NC_000012.12:g.54403955C>G	ExAC,gnomAD
ITGA5	P08648	p.Ser526Asn	rs770698753	missense variant	-	NC_000012.12:g.54403955C>T	ExAC,gnomAD
ITGA5	P08648	p.Asn530Ser	rs1239375715	missense variant	-	NC_000012.12:g.54403943T>C	TOPMed,gnomAD
ITGA5	P08648	p.Asn530Tyr	rs1424545606	missense variant	-	NC_000012.12:g.54403944T>A	TOPMed
ITGA5	P08648	p.Gly533Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54403934C>T	NCI-TCGA
ITGA5	P08648	p.Val536Ile	rs140478060	missense variant	-	NC_000012.12:g.54403926C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala537Pro	rs1274589915	missense variant	-	NC_000012.12:g.54403923C>G	gnomAD
ITGA5	P08648	p.Ser539Phe	rs1245087831	missense variant	-	NC_000012.12:g.54403916G>A	gnomAD
ITGA5	P08648	p.Ile540Thr	rs772305445	missense variant	-	NC_000012.12:g.54403913A>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly541Asp	rs748314224	missense variant	-	NC_000012.12:g.54403779C>T	ExAC,gnomAD
ITGA5	P08648	p.Thr543Ile	rs1417703744	missense variant	-	NC_000012.12:g.54403773G>A	TOPMed
ITGA5	P08648	p.Val544Met	rs774696975	missense variant	-	NC_000012.12:g.54403771C>T	ExAC,gnomAD
ITGA5	P08648	p.Glu545Gly	rs768565382	missense variant	-	NC_000012.12:g.54403767T>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Leu546Phe	rs780669624	missense variant	-	NC_000012.12:g.54403765G>A	ExAC,gnomAD
ITGA5	P08648	p.Trp550Cys	rs756708362	missense variant	-	NC_000012.12:g.54403751C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg558Gln	rs772988549	missense variant	-	NC_000012.12:g.54403728C>T	ExAC,gnomAD
ITGA5	P08648	p.Arg558Trp	rs143754928	missense variant	-	NC_000012.12:g.54403729G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg559Trp	rs764954354	missense variant	-	NC_000012.12:g.54403726G>A	ExAC,gnomAD
ITGA5	P08648	p.Arg559Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54403725C>T	NCI-TCGA
ITGA5	P08648	p.Ala560Ser	rs1174215658	missense variant	-	NC_000012.12:g.54403723C>A	TOPMed
ITGA5	P08648	p.Phe562Leu	rs760575941	missense variant	-	NC_000012.12:g.54403715G>T	ExAC,gnomAD
ITGA5	P08648	p.Phe562Ser	rs765923735	missense variant	-	NC_000012.12:g.54403716A>G	ExAC,gnomAD
ITGA5	P08648	p.Leu563Pro	rs1360350167	missense variant	-	NC_000012.12:g.54403713A>G	TOPMed
ITGA5	P08648	p.Ala564Val	rs773200827	missense variant	-	NC_000012.12:g.54403710G>A	ExAC,gnomAD
ITGA5	P08648	p.Ser565Tyr	COSM941139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403707G>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Gln567Arg	rs774373363	missense variant	-	NC_000012.12:g.54403701T>C	ExAC,gnomAD
ITGA5	P08648	p.Gln567Glu	rs200536043	missense variant	-	NC_000012.12:g.54403702G>C	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Gln567Lys	rs200536043	missense variant	-	NC_000012.12:g.54403702G>T	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Ala568Thr	rs1324476787	missense variant	-	NC_000012.12:g.54403699C>T	gnomAD
ITGA5	P08648	p.Thr571Ile	rs768955596	missense variant	-	NC_000012.12:g.54403689G>A	ExAC,gnomAD
ITGA5	P08648	p.Thr573Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54403683G>T	NCI-TCGA
ITGA5	P08648	p.Ile576Met	rs1432992844	missense variant	-	NC_000012.12:g.54403673G>C	gnomAD
ITGA5	P08648	p.Ala580Thr	COSM1492982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403663C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg581Ter	COSM1362788	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54403660G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg581Gln	rs770030872	missense variant	-	NC_000012.12:g.54403659C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu582Lys	rs746368710	missense variant	-	NC_000012.12:g.54403657C>T	ExAC,gnomAD
ITGA5	P08648	p.Asp583His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54403654C>G	NCI-TCGA
ITGA5	P08648	p.Cys584Tyr	rs1371721871	missense variant	-	NC_000012.12:g.54403650C>T	gnomAD
ITGA5	P08648	p.Glu586Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54403643C>A	NCI-TCGA
ITGA5	P08648	p.Met587Ile	COSM3462790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403640C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Met587Leu	rs147197344	missense variant	-	NC_000012.12:g.54403642T>G	ESP,TOPMed
ITGA5	P08648	p.Ile589Met	rs781779041	missense variant	-	NC_000012.12:g.54403634G>C	ExAC,gnomAD
ITGA5	P08648	p.Tyr590Ser	rs1402236382	missense variant	-	NC_000012.12:g.54403632T>G	TOPMed
ITGA5	P08648	p.Asn593Ser	rs1180953048	missense variant	-	NC_000012.12:g.54403323T>C	gnomAD
ITGA5	P08648	p.Glu594Asp	rs1199023525	missense variant	-	NC_000012.12:g.54403319C>G	TOPMed,gnomAD
ITGA5	P08648	p.Glu594Lys	rs769977784	missense variant	-	NC_000012.12:g.54403321C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser595Leu	rs550770250	missense variant	-	NC_000012.12:g.54403317G>A	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Ser595Ter	rs550770250	stop gained	-	NC_000012.12:g.54403317G>C	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Glu596Gln	rs1330631505	missense variant	-	NC_000012.12:g.54403315C>G	gnomAD
ITGA5	P08648	p.Arg598Ter	rs1414929192	stop gained	-	NC_000012.12:g.54403309G>A	TOPMed
ITGA5	P08648	p.Arg598Gln	rs771498905	missense variant	-	NC_000012.12:g.54403308C>T	ExAC,gnomAD
ITGA5	P08648	p.Arg598Leu	rs771498905	missense variant	-	NC_000012.12:g.54403308C>A	ExAC,gnomAD
ITGA5	P08648	p.Asp599Glu	rs529138964	missense variant	-	NC_000012.12:g.54403304G>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Lys600Arg	rs778171169	missense variant	-	NC_000012.12:g.54403302T>C	ExAC,gnomAD
ITGA5	P08648	p.Leu601Val	rs1268133397	missense variant	-	NC_000012.12:g.54403300G>C	gnomAD
ITGA5	P08648	p.Ser602Pro	rs1218292718	missense variant	-	NC_000012.12:g.54403297A>G	gnomAD
ITGA5	P08648	p.Ser602Leu	rs148483027	missense variant	-	NC_000012.12:g.54403296G>A	ESP,TOPMed,gnomAD
ITGA5	P08648	p.Ser602Ter	rs148483027	stop gained	-	NC_000012.12:g.54403296G>T	ESP,TOPMed,gnomAD
ITGA5	P08648	p.Pro603Ser	rs1447900283	missense variant	-	NC_000012.12:g.54403294G>A	gnomAD
ITGA5	P08648	p.Pro603Leu	rs748926845	missense variant	-	NC_000012.12:g.54403293G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.His605Arg	rs779697893	missense variant	-	NC_000012.12:g.54403287T>C	ExAC,gnomAD
ITGA5	P08648	p.Ala607Thr	rs138215416	missense variant	-	NC_000012.12:g.54403282C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala607Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54403281G>T	NCI-TCGA
ITGA5	P08648	p.Leu608Phe	rs746144783	missense variant	-	NC_000012.12:g.54403279G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asn609Tyr	COSM6137259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403276T>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Pro614Leu	COSM4043200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403260G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Pro614Thr	rs1453519357	missense variant	-	NC_000012.12:g.54403261G>T	gnomAD
ITGA5	P08648	p.Gln615Lys	rs144650038	missense variant	-	NC_000012.12:g.54403258G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val618Leu	rs149348150	missense variant	-	NC_000012.12:g.54403249C>G	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val618Leu	rs149348150	missense variant	-	NC_000012.12:g.54403249C>A	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser620Thr	rs1204623492	missense variant	-	NC_000012.12:g.54403242C>G	gnomAD
ITGA5	P08648	p.His621Gln	rs138831238	missense variant	-	NC_000012.12:g.54403238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.His621Asp	rs752908191	missense variant	-	NC_000012.12:g.54403240G>C	ExAC,gnomAD
ITGA5	P08648	p.His621Arg	rs765560841	missense variant	-	NC_000012.12:g.54403239T>C	ExAC,gnomAD
ITGA5	P08648	p.Gly622Ser	rs776793133	missense variant	-	NC_000012.12:g.54403237C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Leu623Pro	rs1439114037	missense variant	-	NC_000012.12:g.54403233A>G	gnomAD
ITGA5	P08648	p.Arg624Ser	COSM4842920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54403229C>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Pro625Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54403228G>A	NCI-TCGA
ITGA5	P08648	p.Ala626Thr	rs1317282528	missense variant	-	NC_000012.12:g.54403225C>T	gnomAD
ITGA5	P08648	p.His628Arg	rs773650096	missense variant	-	NC_000012.12:g.54403218T>C	ExAC,gnomAD
ITGA5	P08648	p.Tyr629Cys	rs772424925	missense variant	-	NC_000012.12:g.54403215T>C	ExAC,gnomAD
ITGA5	P08648	p.Ser633Ile	rs1192691483	missense variant	-	NC_000012.12:g.54403203C>A	gnomAD
ITGA5	P08648	p.Arg634Trp	rs1478270820	missense variant	-	NC_000012.12:g.54403201G>A	gnomAD
ITGA5	P08648	p.Arg634Gln	rs142874592	missense variant	-	NC_000012.12:g.54403200C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ile635Arg	rs745572821	missense variant	-	NC_000012.12:g.54403197A>C	ExAC,gnomAD
ITGA5	P08648	p.Asp637Tyr	rs756782196	missense variant	-	NC_000012.12:g.54403192C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asp637Asn	rs756782196	missense variant	-	NC_000012.12:g.54403192C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Lys638Glu	rs138386543	missense variant	-	NC_000012.12:g.54403189T>C	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala639Gly	rs202210895	missense variant	-	NC_000012.12:g.54403049G>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val659Glu	rs1418047798	missense variant	-	NC_000012.12:g.54402989A>T	TOPMed
ITGA5	P08648	p.Phe660Ser	rs778848462	missense variant	-	NC_000012.12:g.54402986A>G	ExAC,gnomAD
ITGA5	P08648	p.Gly661Glu	rs754880396	missense variant	-	NC_000012.12:g.54402983C>T	ExAC,gnomAD
ITGA5	P08648	p.Glu662Val	rs1441874424	missense variant	-	NC_000012.12:g.54402328T>A	gnomAD
ITGA5	P08648	p.Asn664Ser	rs1239207772	missense variant	-	NC_000012.12:g.54402322T>C	gnomAD
ITGA5	P08648	p.His665Leu	rs779007757	missense variant	-	NC_000012.12:g.54402319T>A	ExAC,gnomAD
ITGA5	P08648	p.His665Tyr	rs938187132	missense variant	-	NC_000012.12:g.54402320G>A	TOPMed
ITGA5	P08648	p.Asn675Lys	rs780278136	missense variant	-	NC_000012.12:g.54402288G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr677Ile	rs756270011	missense variant	-	NC_000012.12:g.54402283G>A	ExAC,gnomAD
ITGA5	P08648	p.Phe678Cys	rs367885610	missense variant	-	NC_000012.12:g.54402280A>C	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Phe678Ser	rs367885610	missense variant	-	NC_000012.12:g.54402280A>G	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.His679Leu	rs1242255253	missense variant	-	NC_000012.12:g.54402277T>A	gnomAD
ITGA5	P08648	p.His679Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54402278G>A	NCI-TCGA
ITGA5	P08648	p.Ala680Thr	rs781241844	missense variant	-	NC_000012.12:g.54402275C>T	ExAC,gnomAD
ITGA5	P08648	p.Ala680Val	rs1158806417	missense variant	-	NC_000012.12:g.54402274G>A	TOPMed
ITGA5	P08648	p.Gln681Leu	rs1302384376	missense variant	-	NC_000012.12:g.54402271T>A	gnomAD
ITGA5	P08648	p.Val683Met	rs762925290	missense variant	-	NC_000012.12:g.54402266C>T	ExAC,gnomAD
ITGA5	P08648	p.Gly686Arg	rs1365748798	missense variant	-	NC_000012.12:g.54402257C>G	gnomAD
ITGA5	P08648	p.Gly686Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54402257C>T	NCI-TCGA
ITGA5	P08648	p.Ala688Thr	rs764586614	missense variant	-	NC_000012.12:g.54402251C>T	ExAC,gnomAD
ITGA5	P08648	p.Tyr689Ter	rs1344705718	stop gained	-	NC_000012.12:g.54402246A>C	gnomAD
ITGA5	P08648	p.Leu693Phe	rs1381530455	missense variant	-	NC_000012.12:g.54402236G>A	gnomAD
ITGA5	P08648	p.Arg694Gln	rs150458044	missense variant	-	NC_000012.12:g.54402232C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg694Pro	rs150458044	missense variant	-	NC_000012.12:g.54402232C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg694Trp	rs765680909	missense variant	-	NC_000012.12:g.54402233G>A	ExAC,gnomAD
ITGA5	P08648	p.Val695Ile	rs1268938928	missense variant	-	NC_000012.12:g.54402230C>T	gnomAD
ITGA5	P08648	p.Thr696Ile	rs771652830	missense variant	-	NC_000012.12:g.54402226G>A	ExAC
ITGA5	P08648	p.Ala697Thr	rs200224397	missense variant	-	NC_000012.12:g.54402224C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro699Ala	rs768504106	missense variant	-	NC_000012.12:g.54402218G>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro699Ser	rs768504106	missense variant	-	NC_000012.12:g.54402218G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu700Lys	rs749300861	missense variant	-	NC_000012.12:g.54402215C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu702Gln	COSM4908809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54402209C>G	NCI-TCGA Cosmic
ITGA5	P08648	p.Tyr703Cys	rs779684978	missense variant	-	NC_000012.12:g.54402205T>C	ExAC,gnomAD
ITGA5	P08648	p.Val707Ile	rs781404219	missense variant	-	NC_000012.12:g.54402194C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val707Ala	rs961412174	missense variant	-	NC_000012.12:g.54402193A>G	TOPMed,gnomAD
ITGA5	P08648	p.Ser714Phe	rs762798561	missense variant	-	NC_000012.12:g.54402086G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser717Arg	rs771162987	missense variant	-	NC_000012.12:g.54402076G>T	ExAC,gnomAD
ITGA5	P08648	p.Cys718Tyr	rs747278825	missense variant	-	NC_000012.12:g.54402074C>T	ExAC,gnomAD
ITGA5	P08648	p.Tyr720His	rs777683379	missense variant	-	NC_000012.12:g.54402069A>G	ExAC,gnomAD
ITGA5	P08648	p.Tyr720Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.54402067G>T	NCI-TCGA
ITGA5	P08648	p.Phe721Val	rs1461853382	missense variant	-	NC_000012.12:g.54402066A>C	gnomAD
ITGA5	P08648	p.Ala722Val	rs1172389465	missense variant	-	NC_000012.12:g.54402062G>A	gnomAD
ITGA5	P08648	p.Ala722Thr	rs1420936429	missense variant	-	NC_000012.12:g.54402063C>T	gnomAD
ITGA5	P08648	p.Val723Leu	rs748546935	missense variant	-	NC_000012.12:g.54402060C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val723Met	rs748546935	missense variant	-	NC_000012.12:g.54402060C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asn724Thr	rs1444046775	missense variant	-	NC_000012.12:g.54402056T>G	gnomAD
ITGA5	P08648	p.Gln725Lys	rs551709163	missense variant	-	NC_000012.12:g.54402054G>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg727His	rs766902219	missense variant	-	NC_000012.12:g.54402047C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg727Cys	rs754279262	missense variant	-	NC_000012.12:g.54402048G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg727Leu	rs766902219	missense variant	-	NC_000012.12:g.54402047C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Leu733Pro	rs751328003	missense variant	-	NC_000012.12:g.54402029A>G	ExAC,gnomAD
ITGA5	P08648	p.Gly734Ser	rs1256123423	missense variant	-	NC_000012.12:g.54402027C>T	TOPMed
ITGA5	P08648	p.Asn735Ser	rs1242771749	missense variant	-	NC_000012.12:g.54402023T>C	gnomAD
ITGA5	P08648	p.Pro736Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54402020G>A	NCI-TCGA
ITGA5	P08648	p.Lys738Thr	rs763502818	missense variant	-	NC_000012.12:g.54402014T>G	ExAC,gnomAD
ITGA5	P08648	p.Ala739Ser	rs775220608	missense variant	-	NC_000012.12:g.54402012C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala739Pro	rs775220608	missense variant	-	NC_000012.12:g.54402012C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala739Gly	rs1446431138	missense variant	-	NC_000012.12:g.54402011G>C	TOPMed,gnomAD
ITGA5	P08648	p.Gly740Arg	rs765249062	missense variant	-	NC_000012.12:g.54402009C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala741Asp	rs140414186	missense variant	-	NC_000012.12:g.54402005G>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser742Arg	rs144976814	missense variant	-	NC_000012.12:g.54402001A>C	ESP,gnomAD
ITGA5	P08648	p.Leu743Val	rs766148350	missense variant	-	NC_000012.12:g.54401855G>C	ExAC,gnomAD
ITGA5	P08648	p.Gly745Asp	rs1453356459	missense variant	-	NC_000012.12:g.54401848C>T	gnomAD
ITGA5	P08648	p.Gly745Ser	rs1197054121	missense variant	-	NC_000012.12:g.54401849C>T	gnomAD
ITGA5	P08648	p.Gly746Asp	rs1214989001	missense variant	-	NC_000012.12:g.54401845C>T	TOPMed
ITGA5	P08648	p.Arg748Trp	rs773265895	missense variant	-	NC_000012.12:g.54401840G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr750Ser	rs1288870764	missense variant	-	NC_000012.12:g.54401834T>A	gnomAD
ITGA5	P08648	p.Thr750Ile	rs149930559	missense variant	-	NC_000012.12:g.54401833G>A	ESP,ExAC,TOPMed
ITGA5	P08648	p.Pro752Ser	COSM3462787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401828G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.His753Leu	rs910355058	missense variant	-	NC_000012.12:g.54401824T>A	TOPMed
ITGA5	P08648	p.His753Tyr	rs868446047	missense variant	-	NC_000012.12:g.54401825G>A	gnomAD
ITGA5	P08648	p.His753Pro	rs910355058	missense variant	-	NC_000012.12:g.54401824T>G	TOPMed
ITGA5	P08648	p.Leu754Phe	COSM3462786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401822G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Leu754Ile	rs201887725	missense variant	-	NC_000012.12:g.54401822G>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg755Trp	rs780724522	missense variant	-	NC_000012.12:g.54401819G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg755Gln	rs139168891	missense variant	-	NC_000012.12:g.54401818C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asp756Asn	rs746271167	missense variant	-	NC_000012.12:g.54401816C>T	ExAC,gnomAD
ITGA5	P08648	p.Asp756Tyr	rs746271167	missense variant	-	NC_000012.12:g.54401816C>A	ExAC,gnomAD
ITGA5	P08648	p.Thr757Pro	rs777240132	missense variant	-	NC_000012.12:g.54401813T>G	ExAC,gnomAD
ITGA5	P08648	p.Gln762His	rs1362305130	missense variant	-	NC_000012.12:g.54401796C>G	TOPMed,gnomAD
ITGA5	P08648	p.Gln762Arg	rs1379994144	missense variant	-	NC_000012.12:g.54401797T>C	TOPMed
ITGA5	P08648	p.Gln762His	rs1362305130	missense variant	-	NC_000012.12:g.54401796C>A	TOPMed,gnomAD
ITGA5	P08648	p.Phe763Ser	rs1159192284	missense variant	-	NC_000012.12:g.54401794A>G	gnomAD
ITGA5	P08648	p.Phe763Val	rs1296053898	missense variant	-	NC_000012.12:g.54401795A>C	TOPMed
ITGA5	P08648	p.Asp764Tyr	rs758043646	missense variant	-	NC_000012.12:g.54401792C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln766Ter	rs1009991987	stop gained	-	NC_000012.12:g.54401786G>A	TOPMed
ITGA5	P08648	p.Leu768Phe	rs150793784	missense variant	-	NC_000012.12:g.54401780G>A	ESP,TOPMed
ITGA5	P08648	p.Leu768Ile	rs150793784	missense variant	-	NC_000012.12:g.54401780G>T	ESP,TOPMed
ITGA5	P08648	p.Ser769Arg	COSM75039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401665G>C	NCI-TCGA Cosmic
ITGA5	P08648	p.Asn773Lys	rs746408856	missense variant	-	NC_000012.12:g.54401653G>T	ExAC,gnomAD
ITGA5	P08648	p.Gln776Leu	COSM123795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401645T>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Ser777Arg	rs771265500	missense variant	-	NC_000012.12:g.54401641G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asp778Glu	rs546562426	missense variant	-	NC_000012.12:g.54401638G>C	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Asp778Asn	rs868268173	missense variant	-	NC_000012.12:g.54401640C>T	TOPMed,gnomAD
ITGA5	P08648	p.Val779Met	rs778548618	missense variant	-	NC_000012.12:g.54401637C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser781Phe	rs754445538	missense variant	-	NC_000012.12:g.54401630G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg783Gln	rs369973451	missense variant	-	NC_000012.12:g.54401624C>T	ExAC,TOPMed
ITGA5	P08648	p.Arg783Trp	rs779590743	missense variant	-	NC_000012.12:g.54401625G>A	ExAC,gnomAD
ITGA5	P08648	p.Arg783Leu	rs369973451	missense variant	-	NC_000012.12:g.54401624C>A	ExAC,TOPMed
ITGA5	P08648	p.Arg783Pro	rs369973451	missense variant	-	NC_000012.12:g.54401624C>G	ExAC,TOPMed
ITGA5	P08648	p.Val786Met	rs751768127	missense variant	-	NC_000012.12:g.54401616C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln791Arg	rs768820055	missense variant	-	NC_000012.12:g.54401600T>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr793Ile	rs1404910124	missense variant	-	NC_000012.12:g.54401594G>A	gnomAD
ITGA5	P08648	p.Gly796Ser	rs374858882	missense variant	-	NC_000012.12:g.54401586C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser798Thr	COSM941133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401474A>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Ser798Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54401474A>G	NCI-TCGA
ITGA5	P08648	p.Glu801Lys	COSM3792783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54401465C>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Ala802Thr	rs755641220	missense variant	-	NC_000012.12:g.54401462C>T	ExAC,gnomAD
ITGA5	P08648	p.Phe805Leu	rs745764294	missense variant	-	NC_000012.12:g.54401451G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val807Gly	rs1037784364	missense variant	-	NC_000012.12:g.54401446A>C	gnomAD
ITGA5	P08648	p.Val807Leu	rs1190297564	missense variant	-	NC_000012.12:g.54401447C>G	gnomAD
ITGA5	P08648	p.Asp809Asn	rs781001104	missense variant	-	NC_000012.12:g.54401441C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Trp810Cys	rs995429588	missense variant	-	NC_000012.12:g.54401436C>G	TOPMed
ITGA5	P08648	p.Pro812Leu	rs1476087862	missense variant	-	NC_000012.12:g.54401431G>A	TOPMed
ITGA5	P08648	p.Arg813Gly	rs757032816	missense variant	-	NC_000012.12:g.54401429G>C	ExAC,gnomAD
ITGA5	P08648	p.Arg813Gln	rs552722363	missense variant	-	NC_000012.12:g.54401428C>T	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Arg813Ter	rs757032816	stop gained	-	NC_000012.12:g.54401429G>A	ExAC,gnomAD
ITGA5	P08648	p.Asp814Asn	rs764027211	missense variant	-	NC_000012.12:g.54401426C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro816Ser	rs2700161	missense variant	-	NC_000012.12:g.54401420G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln817Arg	rs1307925782	missense variant	-	NC_000012.12:g.54401416T>C	gnomAD
ITGA5	P08648	p.Glu819Lys	rs1171835178	missense variant	-	NC_000012.12:g.54401411C>T	TOPMed
ITGA5	P08648	p.Glu819Asp	rs753032812	missense variant	-	NC_000012.12:g.54401409C>A	ExAC,gnomAD
ITGA5	P08648	p.Ala825Val	rs765345142	missense variant	-	NC_000012.12:g.54401392G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Val826Leu	rs1377633026	missense variant	-	NC_000012.12:g.54401390C>G	TOPMed
ITGA5	P08648	p.His827Tyr	rs116375844	missense variant	-	NC_000012.12:g.54401387G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.His828Gln	rs1421856543	missense variant	-	NC_000012.12:g.54401382A>C	gnomAD
ITGA5	P08648	p.His828Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54401382A>T	NCI-TCGA
ITGA5	P08648	p.Val829Ile	rs1364771262	missense variant	-	NC_000012.12:g.54401381C>T	gnomAD
ITGA5	P08648	p.Asn834Ser	rs758324571	missense variant	-	NC_000012.12:g.54400988T>C	ExAC,gnomAD
ITGA5	P08648	p.Asn834Thr	rs758324571	missense variant	-	NC_000012.12:g.54400988T>G	ExAC,gnomAD
ITGA5	P08648	p.Gln835Arg	rs779006818	missense variant	-	NC_000012.12:g.54400985T>C	ExAC,gnomAD
ITGA5	P08648	p.Gln835Lys	rs532056767	missense variant	-	NC_000012.12:g.54400986G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln835Glu	rs532056767	missense variant	-	NC_000012.12:g.54400986G>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ile840Val	rs1327529649	missense variant	-	NC_000012.12:g.54400971T>C	gnomAD
ITGA5	P08648	p.Gly843Asp	rs1312646179	missense variant	-	NC_000012.12:g.54400961C>T	gnomAD
ITGA5	P08648	p.Glu846Ala	rs1471358868	missense variant	-	NC_000012.12:g.54400952T>G	TOPMed
ITGA5	P08648	p.Ala852Thr	rs753840440	missense variant	-	NC_000012.12:g.54400935C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu854Gly	rs766520730	missense variant	-	NC_000012.12:g.54400928T>C	ExAC,gnomAD
ITGA5	P08648	p.Leu858Pro	rs1172181613	missense variant	-	NC_000012.12:g.54400916A>G	gnomAD
ITGA5	P08648	p.Leu858Val	rs750988212	missense variant	-	NC_000012.12:g.54400917G>C	ExAC,gnomAD
ITGA5	P08648	p.Leu858Phe	rs750988212	missense variant	-	NC_000012.12:g.54400917G>A	ExAC,gnomAD
ITGA5	P08648	p.Val861Ala	rs1367764002	missense variant	-	NC_000012.12:g.54400907A>G	gnomAD
ITGA5	P08648	p.Thr862Ser	rs775173115	missense variant	-	NC_000012.12:g.54400904G>C	ExAC,gnomAD
ITGA5	P08648	p.Arg863Gly	rs1425291898	missense variant	-	NC_000012.12:g.54400902T>C	gnomAD
ITGA5	P08648	p.Arg863Thr	rs767288282	missense variant	-	NC_000012.12:g.54400901C>G	-
ITGA5	P08648	p.Val864Ile	rs1167789221	missense variant	-	NC_000012.12:g.54400899C>T	TOPMed
ITGA5	P08648	p.Thr865Met	rs138321035	missense variant	-	NC_000012.12:g.54400895G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr865Lys	rs138321035	missense variant	-	NC_000012.12:g.54400895G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly866Val	COSM4899608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54400892C>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Leu867Pro	rs1376684557	missense variant	-	NC_000012.12:g.54400889A>G	gnomAD
ITGA5	P08648	p.Leu867Phe	rs1197565520	missense variant	-	NC_000012.12:g.54400890G>A	gnomAD
ITGA5	P08648	p.Asn868Thr	rs756867133	missense variant	-	NC_000012.12:g.54400886T>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Asn868Ser	rs756867133	missense variant	-	NC_000012.12:g.54400886T>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Thr870Ser	rs747987452	missense variant	-	NC_000012.12:g.54400880G>C	ExAC,gnomAD
ITGA5	P08648	p.Asn872Ser	rs1316148542	missense variant	-	NC_000012.12:g.54400874T>C	TOPMed,gnomAD
ITGA5	P08648	p.His873Gln	rs149400640	missense variant	-	NC_000012.12:g.54400870G>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro874Leu	rs138908099	missense variant	-	NC_000012.12:g.54400868G>A	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro877Ser	rs1389425191	missense variant	-	NC_000012.12:g.54400860G>A	TOPMed,gnomAD
ITGA5	P08648	p.Gly879Ala	rs754157745	missense variant	-	NC_000012.12:g.54400853C>G	ExAC,gnomAD
ITGA5	P08648	p.Gly879Ser	rs1160993168	missense variant	-	NC_000012.12:g.54400854C>T	gnomAD
ITGA5	P08648	p.Gly879Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54400853C>T	NCI-TCGA
ITGA5	P08648	p.Leu880Arg	rs1270274731	missense variant	-	NC_000012.12:g.54400850A>C	TOPMed
ITGA5	P08648	p.Leu880Val	rs1197531574	missense variant	-	NC_000012.12:g.54400851G>C	TOPMed
ITGA5	P08648	p.Glu881Ter	rs868578677	stop gained	-	NC_000012.12:g.54400848C>A	TOPMed
ITGA5	P08648	p.Asp883Tyr	rs757727043	missense variant	-	NC_000012.12:g.54399944C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro884His	rs752172963	missense variant	-	NC_000012.12:g.54399940G>T	ExAC,gnomAD
ITGA5	P08648	p.Glu885Ter	rs867921931	stop gained	-	NC_000012.12:g.54399938C>A	TOPMed,gnomAD
ITGA5	P08648	p.Glu885Gly	rs1343847075	missense variant	-	NC_000012.12:g.54399937T>C	gnomAD
ITGA5	P08648	p.Glu885Gln	rs867921931	missense variant	-	NC_000012.12:g.54399938C>G	TOPMed,gnomAD
ITGA5	P08648	p.Glu885Lys	rs867921931	missense variant	-	NC_000012.12:g.54399938C>T	TOPMed,gnomAD
ITGA5	P08648	p.Gly886Arg	rs186738212	missense variant	-	NC_000012.12:g.54399935C>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser887Pro	COSM941132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54399932A>G	NCI-TCGA Cosmic
ITGA5	P08648	p.Ser887Thr	rs1289470473	missense variant	-	NC_000012.12:g.54399932A>T	TOPMed
ITGA5	P08648	p.Ser887Phe	rs1370379554	missense variant	-	NC_000012.12:g.54399931G>A	TOPMed
ITGA5	P08648	p.Leu888Val	rs753364148	missense variant	-	NC_000012.12:g.54399929G>C	ExAC,gnomAD
ITGA5	P08648	p.Gln892Lys	rs1398040309	missense variant	-	NC_000012.12:g.54399917G>T	gnomAD
ITGA5	P08648	p.Arg894Trp	rs368518591	missense variant	-	NC_000012.12:g.54399911G>A	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg894Pro	rs1318717182	missense variant	-	NC_000012.12:g.54399910C>G	gnomAD
ITGA5	P08648	p.Arg894Gln	rs1318717182	missense variant	-	NC_000012.12:g.54399910C>T	gnomAD
ITGA5	P08648	p.Glu895Lys	rs761644145	missense variant	-	NC_000012.12:g.54399908C>T	ExAC,gnomAD
ITGA5	P08648	p.Glu895Ala	rs1400812713	missense variant	-	NC_000012.12:g.54399907T>G	gnomAD
ITGA5	P08648	p.Glu895LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.54399908C>-	NCI-TCGA
ITGA5	P08648	p.Ala896Ser	rs774360435	missense variant	-	NC_000012.12:g.54399905C>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ala896Pro	rs774360435	missense variant	-	NC_000012.12:g.54399905C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser898Cys	rs768271279	missense variant	-	NC_000012.12:g.54399899T>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg899Gly	rs749141980	missense variant	-	NC_000012.12:g.54399896G>C	ExAC,gnomAD
ITGA5	P08648	p.Arg899His	rs775645257	missense variant	-	NC_000012.12:g.54399895C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg899Cys	rs749141980	missense variant	-	NC_000012.12:g.54399896G>A	ExAC,gnomAD
ITGA5	P08648	p.Ser901Phe	rs200896534	missense variant	-	NC_000012.12:g.54399889G>A	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser903Phe	COSM3871963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54399883G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Ser904Leu	rs746124596	missense variant	-	NC_000012.12:g.54399880G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro906Ser	rs781241721	missense variant	-	NC_000012.12:g.54399875G>A	ExAC,gnomAD
ITGA5	P08648	p.Pro906Arg	rs1391920482	missense variant	-	NC_000012.12:g.54399874G>C	gnomAD
ITGA5	P08648	p.Ile908Ser	rs757413351	missense variant	-	NC_000012.12:g.54399868A>C	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro912Leu	rs142652896	missense variant	-	NC_000012.12:g.54399751G>A	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Glu915Lys	rs1185868214	missense variant	-	NC_000012.12:g.54399743C>T	gnomAD
ITGA5	P08648	p.Cys916Arg	rs762843772	missense variant	-	NC_000012.12:g.54399740A>G	ExAC,gnomAD
ITGA5	P08648	p.Phe917Cys	rs138614417	missense variant	-	NC_000012.12:g.54399736A>C	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Phe917Ser	rs138614417	missense variant	-	NC_000012.12:g.54399736A>G	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Phe917Tyr	rs138614417	missense variant	-	NC_000012.12:g.54399736A>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg918Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54399734T>A	NCI-TCGA
ITGA5	P08648	p.Leu919Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54399731G>T	NCI-TCGA
ITGA5	P08648	p.Arg920Cys	rs759744172	missense variant	-	NC_000012.12:g.54399728G>A	ExAC,gnomAD
ITGA5	P08648	p.Arg920His	rs899436783	missense variant	-	NC_000012.12:g.54399727C>T	TOPMed,gnomAD
ITGA5	P08648	p.Glu922Lys	rs776855334	missense variant	-	NC_000012.12:g.54399722C>T	ExAC,gnomAD
ITGA5	P08648	p.Leu923Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54399718A>G	NCI-TCGA
ITGA5	P08648	p.Gly924Arg	rs201031426	missense variant	-	NC_000012.12:g.54399716C>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly924Arg	rs201031426	missense variant	-	NC_000012.12:g.54399716C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro925Ser	rs772610449	missense variant	-	NC_000012.12:g.54399713G>A	ExAC,gnomAD
ITGA5	P08648	p.Pro925His	rs748731524	missense variant	-	NC_000012.12:g.54399712G>T	ExAC,gnomAD
ITGA5	P08648	p.Pro925Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54399712G>A	NCI-TCGA
ITGA5	P08648	p.Gln928Lys	rs779406495	missense variant	-	NC_000012.12:g.54399704G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser931Thr	rs1405272562	missense variant	-	NC_000012.12:g.54399694C>G	gnomAD
ITGA5	P08648	p.Ser931Arg	rs375343882	missense variant	-	NC_000012.12:g.54399693G>T	ESP,ExAC,gnomAD
ITGA5	P08648	p.Gln935Arg	rs750027552	missense variant	-	NC_000012.12:g.54399682T>C	ExAC,gnomAD
ITGA5	P08648	p.Leu936Trp	rs1451767181	missense variant	-	NC_000012.12:g.54399679A>C	TOPMed
ITGA5	P08648	p.His937Arg	COSM941130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54399676T>C	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg939Gln	rs1237134836	missense variant	-	NC_000012.12:g.54399670C>T	gnomAD
ITGA5	P08648	p.Arg939Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.54399671G>A	NCI-TCGA
ITGA5	P08648	p.Val940Ile	rs878972350	missense variant	-	NC_000012.12:g.54399668C>T	TOPMed,gnomAD
ITGA5	P08648	p.Val940Phe	rs878972350	missense variant	-	NC_000012.12:g.54399668C>A	TOPMed,gnomAD
ITGA5	P08648	p.Trp941Cys	rs1481432817	missense variant	-	NC_000012.12:g.54399663C>A	gnomAD
ITGA5	P08648	p.Lys943Asn	rs922797052	missense variant	-	NC_000012.12:g.54399657C>G	TOPMed
ITGA5	P08648	p.Leu946Ser	rs751055025	missense variant	-	NC_000012.12:g.54399649A>G	ExAC,TOPMed
ITGA5	P08648	p.Arg948Trp	rs377040337	missense variant	-	NC_000012.12:g.54398698G>A	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg948Gln	rs370125974	missense variant	-	NC_000012.12:g.54398697C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln951His	rs150955083	missense variant	-	NC_000012.12:g.54398687C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln951Arg	rs1217757644	missense variant	-	NC_000012.12:g.54398688T>C	gnomAD
ITGA5	P08648	p.Ser954Asn	rs142582287	missense variant	-	NC_000012.12:g.54398679C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gln956Lys	rs1226249589	missense variant	-	NC_000012.12:g.54398674G>T	TOPMed
ITGA5	P08648	p.Gln956Arg	rs1406064291	missense variant	-	NC_000012.12:g.54398673T>C	gnomAD
ITGA5	P08648	p.Glu958Asp	rs752566250	missense variant	-	NC_000012.12:g.54398666C>G	ExAC,gnomAD
ITGA5	P08648	p.Glu958Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54398667T>A	NCI-TCGA
ITGA5	P08648	p.Ala959Val	rs765192718	missense variant	-	NC_000012.12:g.54398664G>A	ExAC,gnomAD
ITGA5	P08648	p.Ala959Thr	rs1287479521	missense variant	-	NC_000012.12:g.54398665C>T	gnomAD
ITGA5	P08648	p.Ala963Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54398652G>T	NCI-TCGA
ITGA5	P08648	p.Ala963Val	rs754720093	missense variant	-	NC_000012.12:g.54398652G>A	ExAC,gnomAD
ITGA5	P08648	p.Leu964Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54398650G>C	NCI-TCGA
ITGA5	P08648	p.Pro967Arg	rs1174944946	missense variant	-	NC_000012.12:g.54398640G>C	gnomAD
ITGA5	P08648	p.Arg969Ter	COSM5704500	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.54398635G>A	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg969Gln	rs538642834	missense variant	-	NC_000012.12:g.54398634C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ile970Ser	rs1185492003	missense variant	-	NC_000012.12:g.54398631A>C	gnomAD
ITGA5	P08648	p.Pro972Leu	rs1250095026	missense variant	-	NC_000012.12:g.54398625G>A	TOPMed
ITGA5	P08648	p.Pro972His	rs1250095026	missense variant	-	NC_000012.12:g.54398625G>T	TOPMed
ITGA5	P08648	p.Arg973Trp	rs766127225	missense variant	-	NC_000012.12:g.54398623G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg973Gln	rs1477449283	missense variant	-	NC_000012.12:g.54398622C>T	gnomAD
ITGA5	P08648	p.Gln974Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54398619T>A	NCI-TCGA
ITGA5	P08648	p.Leu975Gln	rs773318883	missense variant	-	NC_000012.12:g.54398616A>T	ExAC,gnomAD
ITGA5	P08648	p.Pro976Thr	rs1261489504	missense variant	-	NC_000012.12:g.54398614G>T	gnomAD
ITGA5	P08648	p.Gln977Lys	rs762012604	missense variant	-	NC_000012.12:g.54398611G>T	ExAC,gnomAD
ITGA5	P08648	p.Glu979Lys	rs577771775	missense variant	-	NC_000012.12:g.54398605C>T	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Glu979Gln	rs577771775	missense variant	-	NC_000012.12:g.54398605C>G	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Glu979Gly	rs775915497	missense variant	-	NC_000012.12:g.54398604T>C	ExAC,gnomAD
ITGA5	P08648	p.Arg980Ser	COSM694655	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.54398602G>T	NCI-TCGA Cosmic
ITGA5	P08648	p.Arg980His	rs145576475	missense variant	-	NC_000012.12:g.54398601C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg980Cys	rs1294078639	missense variant	-	NC_000012.12:g.54398602G>A	gnomAD
ITGA5	P08648	p.Gln981His	rs1363132970	missense variant	-	NC_000012.12:g.54398597C>G	gnomAD
ITGA5	P08648	p.Ala985Pro	rs1234563064	missense variant	-	NC_000012.12:g.54397478C>G	gnomAD
ITGA5	P08648	p.Ala985Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54397477G>T	NCI-TCGA
ITGA5	P08648	p.Val986Met	rs1314783878	missense variant	-	NC_000012.12:g.54397475C>T	TOPMed,gnomAD
ITGA5	P08648	p.Val986Leu	rs1314783878	missense variant	-	NC_000012.12:g.54397475C>G	TOPMed,gnomAD
ITGA5	P08648	p.Gln987His	rs763536782	missense variant	-	NC_000012.12:g.54397470T>G	ExAC,gnomAD
ITGA5	P08648	p.Gln987Glu	rs1287351831	missense variant	-	NC_000012.12:g.54397472G>C	TOPMed,gnomAD
ITGA5	P08648	p.Trp988Arg	rs1384464624	missense variant	-	NC_000012.12:g.54397469A>G	gnomAD
ITGA5	P08648	p.Glu992Lys	rs1337003227	missense variant	-	NC_000012.12:g.54397457C>T	gnomAD
ITGA5	P08648	p.Gly993Ser	rs775877636	missense variant	-	NC_000012.12:g.54397454C>T	ExAC,gnomAD
ITGA5	P08648	p.Ser994Thr	rs746251804	missense variant	-	NC_000012.12:g.54397450C>G	ExAC,gnomAD
ITGA5	P08648	p.Val997Ala	rs1161364374	missense variant	-	NC_000012.12:g.54397441A>G	gnomAD
ITGA5	P08648	p.Val997Phe	rs771692164	missense variant	-	NC_000012.12:g.54397442C>A	ExAC,gnomAD
ITGA5	P08648	p.Ile1001Thr	rs977571189	missense variant	-	NC_000012.12:g.54397429A>G	TOPMed
ITGA5	P08648	p.Ile1003Val	rs966471511	missense variant	-	NC_000012.12:g.54397424T>C	TOPMed
ITGA5	P08648	p.Leu1004Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54397421G>T	NCI-TCGA
ITGA5	P08648	p.Ala1005Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.54397418C>A	NCI-TCGA
ITGA5	P08648	p.Ile1006Thr	rs778390918	missense variant	-	NC_000012.12:g.54397414A>G	ExAC,gnomAD
ITGA5	P08648	p.Leu1012Pro	rs779885364	missense variant	-	NC_000012.12:g.54397396A>G	ExAC,gnomAD
ITGA5	P08648	p.Gly1014Asp	rs369205279	missense variant	-	NC_000012.12:g.54397390C>T	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly1014Ala	rs369205279	missense variant	-	NC_000012.12:g.54397390C>G	ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Gly1014Ser	rs750159527	missense variant	-	NC_000012.12:g.54397391C>T	ExAC,gnomAD
ITGA5	P08648	p.Ile1019Val	rs551945113	missense variant	-	NC_000012.12:g.54397376T>C	1000Genomes,ExAC,gnomAD
ITGA5	P08648	p.Ile1019Met	rs1162938214	missense variant	-	NC_000012.12:g.54397374G>C	gnomAD
ITGA5	P08648	p.Tyr1021Cys	rs371275826	missense variant	-	NC_000012.12:g.54397369T>C	ESP
ITGA5	P08648	p.Lys1022Glu	rs1237849318	missense variant	-	NC_000012.12:g.54397367T>C	gnomAD
ITGA5	P08648	p.Lys1027Arg	rs146045476	missense variant	-	NC_000012.12:g.54396363T>C	ESP,TOPMed
ITGA5	P08648	p.Lys1027Gln	rs761442280	missense variant	-	NC_000012.12:g.54396364T>G	ExAC,gnomAD
ITGA5	P08648	p.Arg1028His	rs372996288	missense variant	-	NC_000012.12:g.54396360C>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg1028Pro	rs372996288	missense variant	-	NC_000012.12:g.54396360C>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Arg1028Cys	rs773995957	missense variant	-	NC_000012.12:g.54396361G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser1029Tyr	rs779662025	missense variant	-	NC_000012.12:g.54396357G>T	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Ser1029Phe	rs779662025	missense variant	-	NC_000012.12:g.54396357G>A	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Tyr1032Cys	rs372651499	missense variant	-	NC_000012.12:g.54396348T>C	ESP,ExAC,gnomAD
ITGA5	P08648	p.Gly1033Ser	rs1231829539	missense variant	-	NC_000012.12:g.54396346C>T	TOPMed
ITGA5	P08648	p.Gly1033Asp	rs1382997103	missense variant	-	NC_000012.12:g.54396345C>T	gnomAD
ITGA5	P08648	p.Ala1035Thr	rs144200176	missense variant	-	NC_000012.12:g.54396340C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Met1036Val	rs757127027	missense variant	-	NC_000012.12:g.54396337T>C	ExAC,gnomAD
ITGA5	P08648	p.Met1036Thr	rs751768048	missense variant	-	NC_000012.12:g.54396336A>G	ExAC,TOPMed,gnomAD
ITGA5	P08648	p.Pro1043Thr	rs1463878044	missense variant	-	NC_000012.12:g.54396316G>T	TOPMed
ITGA5	P08648	p.Ala1045Asp	rs1192849147	missense variant	-	NC_000012.12:g.54396309G>T	gnomAD
ITGA5	P08648	p.Ser1047Pro	rs758458905	missense variant	-	NC_000012.12:g.54396304A>G	ExAC
ITGA5	P08648	p.Ter1050Ser	rs953624491	stop lost	-	NC_000012.12:g.54396294C>G	TOPMed
FGF2	P09038	p.Val2Gly	rs1277657893	missense variant	-	NC_000004.12:g.122826780T>G	TOPMed
FGF2	P09038	p.Gly3Cys	rs755065230	missense variant	-	NC_000004.12:g.122826782G>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Gly5Arg	rs75664870	missense variant	-	NC_000004.12:g.122826788G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Gly5Trp	rs75664870	missense variant	-	NC_000004.12:g.122826788G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Gly5Glu	rs201837669	missense variant	-	NC_000004.12:g.122826789G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Gly6Asp	rs201172719	missense variant	-	NC_000004.12:g.122826792G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Gly6ValPheSerTerUnk	rs776164719	frameshift	-	NC_000004.12:g.122826787G>-	NCI-TCGA,NCI-TCGA Cosmic
FGF2	P09038	p.Asp8Asn	rs1365155611	missense variant	-	NC_000004.12:g.122826797G>A	gnomAD
FGF2	P09038	p.Asp8Glu	rs1172502103	missense variant	-	NC_000004.12:g.122826799T>A	TOPMed
FGF2	P09038	p.Val9Ala	rs1468330442	missense variant	-	NC_000004.12:g.122826801T>C	gnomAD
FGF2	P09038	p.Asp11Gly	rs1422731313	missense variant	-	NC_000004.12:g.122826807A>G	TOPMed
FGF2	P09038	p.Asp11Asn	rs1406176309	missense variant	-	NC_000004.12:g.122826806G>A	gnomAD
FGF2	P09038	p.Val12Leu	rs1013771225	missense variant	-	NC_000004.12:g.122826809G>C	TOPMed
FGF2	P09038	p.Val12Gly	rs937369236	missense variant	-	NC_000004.12:g.122826810T>G	gnomAD
FGF2	P09038	p.Thr13Ser	rs1486411520	missense variant	-	NC_000004.12:g.122826812A>T	TOPMed
FGF2	P09038	p.Thr13Met	rs775088697	missense variant	-	NC_000004.12:g.122826813C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Pro14Leu	rs1320375372	missense variant	-	NC_000004.12:g.122826816C>T	gnomAD
FGF2	P09038	p.Arg15Gln	rs867675421	missense variant	-	NC_000004.12:g.122826819G>A	TOPMed
FGF2	P09038	p.Arg15Trp	rs1345803406	missense variant	-	NC_000004.12:g.122826818C>T	gnomAD
FGF2	P09038	p.Gly17Asp	rs763538114	missense variant	-	NC_000004.12:g.122826825G>A	ExAC,gnomAD
FGF2	P09038	p.Gly17Ser	rs574867967	missense variant	-	NC_000004.12:g.122826824G>A	1000Genomes,ExAC,gnomAD
FGF2	P09038	p.Gly18Arg	rs1337751706	missense variant	-	NC_000004.12:g.122826827G>A	gnomAD
FGF2	P09038	p.Gln20His	rs1253573035	missense variant	-	NC_000004.12:g.122826835G>C	TOPMed
FGF2	P09038	p.Ser22Arg	rs776193603	missense variant	-	NC_000004.12:g.122826841C>A	ExAC,gnomAD
FGF2	P09038	p.Gly23Ter	rs761725675	stop gained	-	NC_000004.12:g.122826842G>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Gly23Arg	rs761725675	missense variant	-	NC_000004.12:g.122826842G>C	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Gly23Arg	rs761725675	missense variant	-	NC_000004.12:g.122826842G>A	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg24His	rs1046220867	missense variant	-	NC_000004.12:g.122826846G>A	TOPMed,gnomAD
FGF2	P09038	p.Arg24Pro	rs1046220867	missense variant	-	NC_000004.12:g.122826846G>C	TOPMed,gnomAD
FGF2	P09038	p.Ala26Asp	rs1353746482	missense variant	-	NC_000004.12:g.122826852C>A	TOPMed
FGF2	P09038	p.Ala26Thr	rs1235542932	missense variant	-	NC_000004.12:g.122826851G>A	TOPMed
FGF2	P09038	p.Arg27Ser	rs750232897	missense variant	-	NC_000004.12:g.122826854C>A	ExAC,gnomAD
FGF2	P09038	p.Arg27Leu	rs1482911855	missense variant	-	NC_000004.12:g.122826855G>T	gnomAD
FGF2	P09038	p.Gly28Asp	rs1196141411	missense variant	-	NC_000004.12:g.122826858G>A	gnomAD
FGF2	P09038	p.Cys29Phe	rs1252484277	missense variant	-	NC_000004.12:g.122826861G>T	gnomAD
FGF2	P09038	p.Cys29Trp	rs902408256	missense variant	-	NC_000004.12:g.122826862C>G	TOPMed,gnomAD
FGF2	P09038	p.Asn30Ser	rs758218301	missense variant	-	NC_000004.12:g.122826864A>G	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Asn30His	rs1347292841	missense variant	-	NC_000004.12:g.122826863A>C	gnomAD
FGF2	P09038	p.Asn30Lys	rs979153928	missense variant	-	NC_000004.12:g.122826865C>G	TOPMed
FGF2	P09038	p.Pro33Leu	rs537528863	missense variant	-	NC_000004.12:g.122826873C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Pro33Arg	rs537528863	missense variant	-	NC_000004.12:g.122826873C>G	1000Genomes,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Ala35Thr	rs1466037704	missense variant	-	NC_000004.12:g.122826878G>A	gnomAD
FGF2	P09038	p.Ala36Thr	rs1165309821	missense variant	-	NC_000004.12:g.122826881G>A	TOPMed
FGF2	P09038	p.Trp38Ter	rs1342473116	stop gained	-	NC_000004.12:g.122826889G>A	gnomAD
FGF2	P09038	p.Trp38Leu	rs1389843429	missense variant	-	NC_000004.12:g.122826888G>T	gnomAD
FGF2	P09038	p.Glu39Gly	rs925186805	missense variant	-	NC_000004.12:g.122826891A>G	TOPMed
FGF2	P09038	p.Ala41Ser	rs369126645	missense variant	-	NC_000004.12:g.122826896G>T	ESP,ExAC,gnomAD
FGF2	P09038	p.Leu42Val	rs1225041132	missense variant	-	NC_000004.12:g.122826899C>G	gnomAD
FGF2	P09038	p.Leu42Phe	rs1225041132	missense variant	-	NC_000004.12:g.122826899C>T	gnomAD
FGF2	P09038	p.Pro43Ser	rs756631593	missense variant	-	NC_000004.12:g.122826902C>T	ExAC,gnomAD
FGF2	P09038	p.Pro43Thr	rs756631593	missense variant	-	NC_000004.12:g.122826902C>A	ExAC,gnomAD
FGF2	P09038	p.Pro43Leu	rs1281514668	missense variant	-	NC_000004.12:g.122826903C>T	TOPMed,gnomAD
FGF2	P09038	p.Arg45Gln	rs778297907	missense variant	-	NC_000004.12:g.122826909G>A	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg45Trp	rs1311526628	missense variant	-	NC_000004.12:g.122826908C>T	gnomAD
FGF2	P09038	p.Arg45Leu	rs778297907	missense variant	-	NC_000004.12:g.122826909G>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg46Cys	rs749687881	missense variant	-	NC_000004.12:g.122826911C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg46His	rs771218306	missense variant	-	NC_000004.12:g.122826912G>A	ExAC,gnomAD
FGF2	P09038	p.Pro47Gln	rs1203947549	missense variant	-	NC_000004.12:g.122826915C>A	gnomAD
FGF2	P09038	p.Arg48Trp	rs1490755234	missense variant	-	NC_000004.12:g.122826917C>T	gnomAD
FGF2	P09038	p.Arg48Gln	rs775137950	missense variant	-	NC_000004.12:g.122826918G>A	ExAC,gnomAD
FGF2	P09038	p.Pro51Ala	rs1171762386	missense variant	-	NC_000004.12:g.122826926C>G	gnomAD
FGF2	P09038	p.Val53Met	rs1428188294	missense variant	-	NC_000004.12:g.122826932G>A	gnomAD
FGF2	P09038	p.Asn54Thr	rs776042904	missense variant	-	NC_000004.12:g.122826936A>C	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Asn54Ile	rs776042904	missense variant	-	NC_000004.12:g.122826936A>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Pro55Ala	rs765107715	missense variant	-	NC_000004.12:g.122826938C>G	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Pro55Ser	rs765107715	missense variant	-	NC_000004.12:g.122826938C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg56Lys	rs773244197	missense variant	-	NC_000004.12:g.122826942G>A	ExAC,gnomAD
FGF2	P09038	p.Arg58Gln	rs762842666	missense variant	-	NC_000004.12:g.122826948G>A	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg58Trp	rs912411112	missense variant	-	NC_000004.12:g.122826947C>T	TOPMed,gnomAD
FGF2	P09038	p.Ala59Thr	rs1227367770	missense variant	-	NC_000004.12:g.122826950G>A	gnomAD
FGF2	P09038	p.Ala60Thr	rs1361070589	missense variant	-	NC_000004.12:g.122826953G>A	gnomAD
FGF2	P09038	p.Ala60Pro	rs1361070589	missense variant	-	NC_000004.12:g.122826953G>C	gnomAD
FGF2	P09038	p.Ala60Asp	rs751383303	missense variant	-	NC_000004.12:g.122826954C>A	ExAC,gnomAD
FGF2	P09038	p.Ala60Val	rs751383303	missense variant	-	NC_000004.12:g.122826954C>T	ExAC,gnomAD
FGF2	P09038	p.Gly61Ser	rs1245576530	missense variant	-	NC_000004.12:g.122826956G>A	TOPMed,gnomAD
FGF2	P09038	p.Ser62Leu	rs767760955	missense variant	-	NC_000004.12:g.122826960C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Ser62Ter	rs767760955	stop gained	-	NC_000004.12:g.122826960C>A	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg64His	rs1388380648	missense variant	-	NC_000004.12:g.122826966G>A	TOPMed
FGF2	P09038	p.Arg66Lys	rs931304683	missense variant	-	NC_000004.12:g.122826972G>A	TOPMed,gnomAD
FGF2	P09038	p.Gly67Cys	rs1408983616	missense variant	-	NC_000004.12:g.122826974G>T	TOPMed,gnomAD
FGF2	P09038	p.Gly67Arg	rs1408983616	missense variant	-	NC_000004.12:g.122826974G>C	TOPMed,gnomAD
FGF2	P09038	p.Arg68Gln	rs1162972725	missense variant	-	NC_000004.12:g.122826978G>A	TOPMed,gnomAD
FGF2	P09038	p.Arg68Trp	rs1048407271	missense variant	-	NC_000004.12:g.122826977C>T	TOPMed,gnomAD
FGF2	P09038	p.Arg68Gly	rs1048407271	missense variant	-	NC_000004.12:g.122826977C>G	TOPMed,gnomAD
FGF2	P09038	p.Arg73Gln	rs1367392769	missense variant	-	NC_000004.12:g.122826993G>A	TOPMed,gnomAD
FGF2	P09038	p.Arg73Leu	rs1367392769	missense variant	-	NC_000004.12:g.122826993G>T	TOPMed,gnomAD
FGF2	P09038	p.Pro74Gln	rs1289699253	missense variant	-	NC_000004.12:g.122826996C>A	TOPMed
FGF2	P09038	p.Ser75Asn	rs1362939306	missense variant	-	NC_000004.12:g.122826999G>A	TOPMed,gnomAD
FGF2	P09038	p.Gly76Cys	rs1434289357	missense variant	-	NC_000004.12:g.122827001G>T	TOPMed,gnomAD
FGF2	P09038	p.Gly76Val	rs1239476340	missense variant	-	NC_000004.12:g.122827002G>T	TOPMed
FGF2	P09038	p.Ser77Ter	rs756183320	stop gained	-	NC_000004.12:g.122827005C>A	ExAC,gnomAD
FGF2	P09038	p.Asp81Gly	rs1443097372	missense variant	-	NC_000004.12:g.122827017A>G	TOPMed
FGF2	P09038	p.Arg82Gly	rs1243274699	missense variant	-	NC_000004.12:g.122827019C>G	TOPMed,gnomAD
FGF2	P09038	p.Arg82Cys	rs1243274699	missense variant	-	NC_000004.12:g.122827019C>T	TOPMed,gnomAD
FGF2	P09038	p.Gly83Arg	rs1329076000	missense variant	-	NC_000004.12:g.122827022G>A	TOPMed,gnomAD
FGF2	P09038	p.Arg84Ser	rs1386626033	missense variant	-	NC_000004.12:g.122827025C>A	TOPMed
FGF2	P09038	p.Arg86Gly	rs1156505302	missense variant	-	NC_000004.12:g.122827031C>G	TOPMed
FGF2	P09038	p.Ala87Gly	rs895975445	missense variant	-	NC_000004.12:g.122827035C>G	TOPMed
FGF2	P09038	p.Pro89Leu	rs1395225787	missense variant	-	NC_000004.12:g.122827041C>T	TOPMed
FGF2	P09038	p.Gly90Ser	rs1013302459	missense variant	-	NC_000004.12:g.122827043G>A	TOPMed
FGF2	P09038	p.Gly91Arg	rs1246652416	missense variant	-	NC_000004.12:g.122827046G>A	TOPMed
FGF2	P09038	p.Leu93Val	rs1194287356	missense variant	-	NC_000004.12:g.122827052C>G	TOPMed
FGF2	P09038	p.Gly94Arg	rs1449129559	missense variant	-	NC_000004.12:g.122827055G>C	TOPMed
FGF2	P09038	p.Gly95Ser	rs1000514172	missense variant	-	NC_000004.12:g.122827058G>A	TOPMed
FGF2	P09038	p.Gly95Ala	rs1032038394	missense variant	-	NC_000004.12:g.122827059G>C	TOPMed
FGF2	P09038	p.Gly95Asp	rs1032038394	missense variant	-	NC_000004.12:g.122827059G>A	TOPMed
FGF2	P09038	p.Arg98Gly	rs1295953545	missense variant	-	NC_000004.12:g.122827067C>G	TOPMed
FGF2	P09038	p.Arg98Gln	rs1399088258	missense variant	-	NC_000004.12:g.122827068G>A	TOPMed
FGF2	P09038	p.Ala101Val	rs953912785	missense variant	-	NC_000004.12:g.122827077C>T	TOPMed
FGF2	P09038	p.Gly106Arg	rs1422014013	missense variant	-	NC_000004.12:g.122827091G>C	TOPMed
FGF2	P09038	p.Arg108Trp	rs1259898478	missense variant	-	NC_000004.12:g.122827097C>T	TOPMed
FGF2	P09038	p.Gly109Arg	rs1208057703	missense variant	-	NC_000004.12:g.122827100G>C	TOPMed
FGF2	P09038	p.Gly109Asp	RCV000190152	missense variant	Long QT syndrome (LQTS)	NC_000004.12:g.122827101G>A	ClinVar
FGF2	P09038	p.Gly109Asp	rs796052159	missense variant	-	NC_000004.12:g.122827101G>A	TOPMed,gnomAD
FGF2	P09038	p.Arg110Gly	rs1277804349	missense variant	-	NC_000004.12:g.122827103C>G	TOPMed
FGF2	P09038	p.Arg112Trp	rs1463879546	missense variant	-	NC_000004.12:g.122827109C>T	TOPMed,gnomAD
FGF2	P09038	p.Gly113Ala	rs1341209202	missense variant	-	NC_000004.12:g.122827113G>C	TOPMed
FGF2	P09038	p.Thr114Lys	rs1184392826	missense variant	-	NC_000004.12:g.122827116C>A	TOPMed,gnomAD
FGF2	P09038	p.Ala115Val	rs1355645472	missense variant	-	NC_000004.12:g.122827119C>T	TOPMed
FGF2	P09038	p.Ala116Thr	rs1294781446	missense variant	-	NC_000004.12:g.122827121G>A	TOPMed
FGF2	P09038	p.Ala122Val	rs778152142	missense variant	-	NC_000004.12:g.122827140C>T	ExAC,gnomAD
FGF2	P09038	p.Ala123Val	rs1419959409	missense variant	-	NC_000004.12:g.122827143C>T	gnomAD
FGF2	P09038	p.Ala123Ser	rs754286080	missense variant	-	NC_000004.12:g.122827142G>T	ExAC,gnomAD
FGF2	P09038	p.Arg124Pro	rs757749553	missense variant	-	NC_000004.12:g.122827146G>C	ExAC,gnomAD
FGF2	P09038	p.Gly125Glu	rs1386563271	missense variant	-	NC_000004.12:g.122827149G>A	TOPMed,gnomAD
FGF2	P09038	p.Ser126Tyr	rs779319256	missense variant	-	NC_000004.12:g.122827152C>A	ExAC,gnomAD
FGF2	P09038	p.Ser126Cys	rs779319256	missense variant	-	NC_000004.12:g.122827152C>G	ExAC,gnomAD
FGF2	P09038	p.Arg127Gly	rs1156960709	missense variant	-	NC_000004.12:g.122827154C>G	TOPMed,gnomAD
FGF2	P09038	p.Pro128Leu	rs1408264768	missense variant	-	NC_000004.12:g.122827158C>T	gnomAD
FGF2	P09038	p.Pro128Ser	rs746202230	missense variant	-	NC_000004.12:g.122827157C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Pro128Ala	rs746202230	missense variant	-	NC_000004.12:g.122827157C>G	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Pro130Arg	rs1445514854	missense variant	-	NC_000004.12:g.122827164C>G	TOPMed,gnomAD
FGF2	P09038	p.Met134Thr	rs1225114075	missense variant	-	NC_000004.12:g.122827176T>C	TOPMed,gnomAD
FGF2	P09038	p.Met134Arg	rs1225114075	missense variant	-	NC_000004.12:g.122827176T>G	TOPMed,gnomAD
FGF2	P09038	p.Ile139Thr	rs1327888635	missense variant	-	NC_000004.12:g.122827191T>C	gnomAD
FGF2	P09038	p.Thr141Met	rs780846625	missense variant	-	NC_000004.12:g.122827197C>T	ExAC,gnomAD
FGF2	P09038	p.Ala144Ser	rs769276509	missense variant	-	NC_000004.12:g.122827205G>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Ala144Thr	rs769276509	missense variant	-	NC_000004.12:g.122827205G>A	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Leu145Phe	rs763038264	missense variant	-	NC_000004.12:g.122827210G>T	ExAC,gnomAD
FGF2	P09038	p.Pro146Ser	rs770984817	missense variant	-	NC_000004.12:g.122827211C>T	ExAC,gnomAD
FGF2	P09038	p.Pro146Arg	rs774338502	missense variant	-	NC_000004.12:g.122827212C>G	ExAC,gnomAD
FGF2	P09038	p.Gly149Asp	rs1412760315	missense variant	-	NC_000004.12:g.122827221G>A	gnomAD
FGF2	P09038	p.Gly150Ser	rs752901052	missense variant	-	NC_000004.12:g.122827223G>A	ExAC,gnomAD
FGF2	P09038	p.Ala153Ser	rs760683900	missense variant	-	NC_000004.12:g.122827232G>T	ExAC,gnomAD
FGF2	P09038	p.Ala153Asp	rs931444914	missense variant	-	NC_000004.12:g.122827233C>A	TOPMed
FGF2	P09038	p.Ala153Val	rs931444914	missense variant	-	NC_000004.12:g.122827233C>T	TOPMed
FGF2	P09038	p.Phe154Ser	rs377033294	missense variant	-	NC_000004.12:g.122827236T>C	ESP,ExAC,gnomAD
FGF2	P09038	p.Pro155Leu	rs753911225	missense variant	-	NC_000004.12:g.122827239C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Pro155Gln	rs753911225	missense variant	-	NC_000004.12:g.122827239C>A	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Pro155Ser	rs984059240	missense variant	-	NC_000004.12:g.122827238C>T	TOPMed
FGF2	P09038	p.Pro156Ser	rs750806900	missense variant	-	NC_000004.12:g.122827241C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Gly157Asp	rs780712893	missense variant	-	NC_000004.12:g.122827245G>A	ExAC,gnomAD
FGF2	P09038	p.Gly157Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.122827244G>A	NCI-TCGA
FGF2	P09038	p.His158Leu	rs1308480387	missense variant	-	NC_000004.12:g.122827248A>T	gnomAD
FGF2	P09038	p.Phe159Leu	COSM460698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.122827252C>G	NCI-TCGA Cosmic
FGF2	P09038	p.Phe159Leu	rs1388483162	missense variant	-	NC_000004.12:g.122827250T>C	gnomAD
FGF2	P09038	p.Phe159Ser	rs1207110793	missense variant	-	NC_000004.12:g.122827251T>C	gnomAD
FGF2	P09038	p.Asp161Glu	rs1200222343	missense variant	-	NC_000004.12:g.122827258C>A	gnomAD
FGF2	P09038	p.Pro162His	rs777489946	missense variant	-	NC_000004.12:g.122827260C>A	ExAC,gnomAD
FGF2	P09038	p.Pro162Ser	rs769315412	missense variant	-	NC_000004.12:g.122827259C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Lys163Thr	rs748774402	missense variant	-	NC_000004.12:g.122827263A>C	ExAC,gnomAD
FGF2	P09038	p.Cys167Ser	rs1369545744	missense variant	-	NC_000004.12:g.122827274T>A	TOPMed,gnomAD
FGF2	P09038	p.Gly170Trp	rs1304371444	missense variant	-	NC_000004.12:g.122827283G>T	gnomAD
FGF2	P09038	p.Gly171Val	rs1434889412	missense variant	-	NC_000004.12:g.122827287G>T	gnomAD
FGF2	P09038	p.Gly171Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.122827287G>A	NCI-TCGA
FGF2	P09038	p.Phe172Leu	rs1363329019	missense variant	-	NC_000004.12:g.122827291C>A	gnomAD
FGF2	P09038	p.Phe173Ile	rs1231050324	missense variant	-	NC_000004.12:g.122827292T>A	gnomAD
FGF2	P09038	p.Arg175Cys	COSM3008948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.122827298C>T	NCI-TCGA Cosmic
FGF2	P09038	p.Ile176Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.122827301A>T	NCI-TCGA
FGF2	P09038	p.His177Asp	rs1273011160	missense variant	-	NC_000004.12:g.122827304C>G	gnomAD
FGF2	P09038	p.Pro178Thr	rs1341634346	missense variant	-	NC_000004.12:g.122827307C>A	gnomAD
FGF2	P09038	p.Asp179ThrPheSerTerUnkUnk	COSM4613617	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.122827306C>-	NCI-TCGA Cosmic
FGF2	P09038	p.Asp179Asn	rs1316554552	missense variant	-	NC_000004.12:g.122827310G>A	gnomAD
FGF2	P09038	p.Gly180Arg	rs771842609	missense variant	-	NC_000004.12:g.122827313G>C	ExAC,gnomAD
FGF2	P09038	p.Arg181Gly	rs1236255682	missense variant	-	NC_000004.12:g.122827316C>G	TOPMed
FGF2	P09038	p.Val182Asp	rs764272274	missense variant	-	NC_000004.12:g.122827320T>A	ExAC,gnomAD
FGF2	P09038	p.Val182Leu	rs761028222	missense variant	-	NC_000004.12:g.122827319G>C	ExAC
FGF2	P09038	p.Gly184Arg	rs761829108	missense variant	-	NC_000004.12:g.122827325G>A	ExAC,gnomAD
FGF2	P09038	p.Val185Ala	rs1389325875	missense variant	-	NC_000004.12:g.122827329T>C	gnomAD
FGF2	P09038	p.Val185Ile	rs765761551	missense variant	-	NC_000004.12:g.122827328G>A	ExAC,gnomAD
FGF2	P09038	p.Arg186Trp	rs1424847946	missense variant	-	NC_000004.12:g.122827331C>T	gnomAD
FGF2	P09038	p.Ile193Val	rs1404216863	missense variant	-	NC_000004.12:g.122827352A>G	gnomAD
FGF2	P09038	p.Lys194Asn	rs148587537	missense variant	-	NC_000004.12:g.122876325G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Lys194Ter	rs1461756902	stop gained	-	NC_000004.12:g.122876323A>T	gnomAD
FGF2	P09038	p.Glu200Gly	rs745342993	missense variant	-	NC_000004.12:g.122876342A>G	ExAC,gnomAD
FGF2	P09038	p.Glu201Ala	rs1307758440	missense variant	-	NC_000004.12:g.122876345A>C	TOPMed
FGF2	P09038	p.Gly203Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.122876351G>A	NCI-TCGA
FGF2	P09038	p.Val204Ile	rs1182102110	missense variant	-	NC_000004.12:g.122876353G>A	gnomAD
FGF2	P09038	p.Ser206Phe	rs1471308253	missense variant	-	NC_000004.12:g.122876360C>T	gnomAD
FGF2	P09038	p.Ser206Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.122876359T>C	NCI-TCGA
FGF2	P09038	p.Val210Ala	rs776849106	missense variant	-	NC_000004.12:g.122876372T>C	ExAC,gnomAD
FGF2	P09038	p.Val210Leu	rs113754132	missense variant	-	NC_000004.12:g.122876371G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Asn213Lys	rs557906415	missense variant	-	NC_000004.12:g.122876382C>G	1000Genomes,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Asn213Asp	rs1400532612	missense variant	-	NC_000004.12:g.122876380A>G	gnomAD
FGF2	P09038	p.Arg214Cys	rs769999277	missense variant	-	NC_000004.12:g.122876383C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg214His	rs1352612742	missense variant	-	NC_000004.12:g.122876384G>A	gnomAD
FGF2	P09038	p.Arg214Gly	rs769999277	missense variant	-	NC_000004.12:g.122876383C>G	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg214Pro	rs1352612742	missense variant	-	NC_000004.12:g.122876384G>C	gnomAD
FGF2	P09038	p.Arg214Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.122876384G>T	NCI-TCGA
FGF2	P09038	p.Tyr215Ter	COSM732738	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.122876388C>A	NCI-TCGA Cosmic
FGF2	P09038	p.Leu216Pro	rs762917513	missense variant	-	NC_000004.12:g.122876390T>C	ExAC,gnomAD
FGF2	P09038	p.Met218Ile	COSM732737	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.122876397G>C	NCI-TCGA Cosmic
FGF2	P09038	p.Met218Val	rs771501454	missense variant	-	NC_000004.12:g.122876395A>G	ExAC,gnomAD
FGF2	P09038	p.Met218Leu	rs771501454	missense variant	-	NC_000004.12:g.122876395A>C	ExAC,gnomAD
FGF2	P09038	p.Asp221Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.122876404G>T	NCI-TCGA
FGF2	P09038	p.Arg223Thr	rs768053240	missense variant	-	NC_000004.12:g.122876411G>C	ExAC,gnomAD
FGF2	P09038	p.Arg223Lys	rs768053240	missense variant	-	NC_000004.12:g.122876411G>A	ExAC,gnomAD
FGF2	P09038	p.Leu225Val	rs753112115	missense variant	-	NC_000004.12:g.122876416C>G	ExAC,gnomAD
FGF2	P09038	p.Ala226Thr	rs577765433	missense variant	-	NC_000004.12:g.122876419G>A	1000Genomes,ExAC,gnomAD
FGF2	P09038	p.Ala226Val	COSM5400415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.122876420C>T	NCI-TCGA Cosmic
FGF2	P09038	p.Cys229Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.122892216T>A	NCI-TCGA
FGF2	P09038	p.Thr231Met	rs151141410	missense variant	-	NC_000004.12:g.122892221C>T	ESP,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg239Ter	COSM1426728	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.122892244C>T	NCI-TCGA Cosmic
FGF2	P09038	p.Arg239Gln	rs1189001118	missense variant	-	NC_000004.12:g.122892245G>A	TOPMed,gnomAD
FGF2	P09038	p.Ser242Phe	rs774476980	missense variant	-	NC_000004.12:g.122892254C>T	ExAC,gnomAD
FGF2	P09038	p.Ser242Tyr	rs774476980	missense variant	-	NC_000004.12:g.122892254C>A	ExAC,gnomAD
FGF2	P09038	p.Asn244Lys	rs772679777	missense variant	-	NC_000004.12:g.122892261C>A	ExAC,TOPMed
FGF2	P09038	p.Tyr245Cys	rs776049778	missense variant	-	NC_000004.12:g.122892263A>G	ExAC,gnomAD
FGF2	P09038	p.Asn246Asp	rs1168227898	missense variant	-	NC_000004.12:g.122892265A>G	gnomAD
FGF2	P09038	p.Asn246Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.122892265A>T	NCI-TCGA
FGF2	P09038	p.Tyr248Ter	COSM6166072	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.122892273C>A	NCI-TCGA Cosmic
FGF2	P09038	p.Arg249Gln	rs762535977	missense variant	-	NC_000004.12:g.122892275G>A	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Arg249Trp	rs749974017	missense variant	-	NC_000004.12:g.122892274C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Lys252Asn	rs145325930	missense variant	-	NC_000004.12:g.122892285A>T	ESP,ExAC,TOPMed,gnomAD
FGF2	P09038	p.Thr254Asn	rs1299477002	missense variant	-	NC_000004.12:g.122892290C>A	gnomAD
FGF2	P09038	p.Tyr257Phe	COSM1426729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.122892299A>T	NCI-TCGA Cosmic
FGF2	P09038	p.Tyr257Cys	rs751060740	missense variant	-	NC_000004.12:g.122892299A>G	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Val258Ala	rs1461924751	missense variant	-	NC_000004.12:g.122892302T>C	TOPMed,gnomAD
FGF2	P09038	p.Val258TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.122892301G>-	NCI-TCGA
FGF2	P09038	p.Lys261Gln	rs754948013	missense variant	-	NC_000004.12:g.122892310A>C	ExAC,gnomAD
FGF2	P09038	p.Arg262Ter	rs781084194	stop gained	-	NC_000004.12:g.122892313C>T	ExAC,gnomAD
FGF2	P09038	p.Arg262Gln	COSM1207069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.122892314G>A	NCI-TCGA Cosmic
FGF2	P09038	p.Tyr266His	rs752508997	missense variant	-	NC_000004.12:g.122892325T>C	ExAC,gnomAD
FGF2	P09038	p.Gly269Glu	rs755800634	missense variant	-	NC_000004.12:g.122892335G>A	ExAC,gnomAD
FGF2	P09038	p.Ser270Phe	rs1199964600	missense variant	-	NC_000004.12:g.122892338C>T	gnomAD
FGF2	P09038	p.Gly273Glu	rs749531276	missense variant	-	NC_000004.12:g.122892347G>A	ExAC,gnomAD
FGF2	P09038	p.Pro274Leu	rs1487654289	missense variant	-	NC_000004.12:g.122892350C>T	TOPMed
FGF2	P09038	p.Gln276His	rs1188387338	missense variant	-	NC_000004.12:g.122892357G>C	gnomAD
FGF2	P09038	p.Gln276Lys	COSM4121863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.122892355C>A	NCI-TCGA Cosmic
FGF2	P09038	p.Lys277Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.122892359A>C	NCI-TCGA
FGF2	P09038	p.Met284Thr	rs1237118268	missense variant	-	NC_000004.12:g.122892380T>C	TOPMed
FGF2	P09038	p.Met284Val	rs765660062	missense variant	-	NC_000004.12:g.122892379A>G	TOPMed,gnomAD
FGF2	P09038	p.Met284Ile	rs1346242368	missense variant	-	NC_000004.12:g.122892381G>A	TOPMed
FGF2	P09038	p.Ser285Cys	rs779177648	missense variant	-	NC_000004.12:g.122892383C>G	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Ser285Phe	rs779177648	missense variant	-	NC_000004.12:g.122892383C>T	ExAC,TOPMed,gnomAD
FGF2	P09038	p.Ala286Thr	rs1215455721	missense variant	-	NC_000004.12:g.122892385G>A	TOPMed
FGF2	P09038	p.Lys287Thr	rs745924109	missense variant	-	NC_000004.12:g.122892389A>C	ExAC,TOPMed
FGF2	P09038	p.Lys287Gln	rs1367982250	missense variant	-	NC_000004.12:g.122892388A>C	gnomAD
FGF2	P09038	p.Ser288Arg	COSM74661	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.122892393C>G	NCI-TCGA Cosmic
GSTP1	P09211	p.Pro2Leu	rs748870439	missense variant	-	NC_000011.10:g.67584137C>T	ExAC,gnomAD
GSTP1	P09211	p.Pro3Arg	rs747863009	missense variant	-	NC_000011.10:g.67584140C>G	ExAC,gnomAD
GSTP1	P09211	p.Pro3Thr	rs778676080	missense variant	-	NC_000011.10:g.67584139C>A	ExAC,gnomAD
GSTP1	P09211	p.Tyr4Cys	rs1259510547	missense variant	-	NC_000011.10:g.67584143A>G	gnomAD
GSTP1	P09211	p.Val7Phe	rs1197989614	missense variant	-	NC_000011.10:g.67584151G>T	gnomAD
GSTP1	P09211	p.Tyr8Cys	rs772897689	missense variant	-	NC_000011.10:g.67584155A>G	ExAC,gnomAD
GSTP1	P09211	p.Val11Ala	rs770921838	missense variant	-	NC_000011.10:g.67584164T>C	ExAC,gnomAD
GSTP1	P09211	p.Arg12Gly	rs372703452	missense variant	-	NC_000011.10:g.67584166C>G	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg12Ter	rs372703452	stop gained	-	NC_000011.10:g.67584166C>T	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg12Pro	rs764194048	missense variant	-	NC_000011.10:g.67584167G>C	ExAC,gnomAD
GSTP1	P09211	p.Arg14Cys	rs560001291	missense variant	-	NC_000011.10:g.67584466C>T	1000Genomes,ExAC
GSTP1	P09211	p.Arg14Leu	rs1469428072	missense variant	-	NC_000011.10:g.67584467G>T	TOPMed
GSTP1	P09211	p.Cys15Tyr	rs1398861223	missense variant	-	NC_000011.10:g.67584470G>A	gnomAD
GSTP1	P09211	p.Cys15Trp	rs768734901	missense variant	-	NC_000011.10:g.67584471C>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ala16Gly	rs1242562303	missense variant	-	NC_000011.10:g.67584473C>G	TOPMed,gnomAD
GSTP1	P09211	p.Ala16Glu	rs1242562303	missense variant	-	NC_000011.10:g.67584473C>A	TOPMed,gnomAD
GSTP1	P09211	p.Ala16Thr	rs774305853	missense variant	-	NC_000011.10:g.67584472G>A	ExAC,gnomAD
GSTP1	P09211	p.Ala17Thr	rs1425920131	missense variant	-	NC_000011.10:g.67584475G>A	gnomAD
GSTP1	P09211	p.Leu18Val	rs12796085	missense variant	-	NC_000011.10:g.67584478C>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg19Cys	rs1354173738	missense variant	-	NC_000011.10:g.67584481C>T	TOPMed,gnomAD
GSTP1	P09211	p.Arg19His	rs781578393	missense variant	-	NC_000011.10:g.67584482G>A	TOPMed,gnomAD
GSTP1	P09211	p.Arg19Leu	rs781578393	missense variant	-	NC_000011.10:g.67584482G>T	TOPMed,gnomAD
GSTP1	P09211	p.Met20Leu	rs767694369	missense variant	-	NC_000011.10:g.67584484A>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Met20Val	rs767694369	missense variant	-	NC_000011.10:g.67584484A>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Met20Ile	rs773694545	missense variant	-	NC_000011.10:g.67584486G>C	ExAC,gnomAD
GSTP1	P09211	p.Leu21Gln	rs761170136	missense variant	-	NC_000011.10:g.67584488T>A	ExAC,gnomAD
GSTP1	P09211	p.Ala23Ser	rs192307201	missense variant	-	NC_000011.10:g.67584493G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ala23Val	rs754355118	missense variant	-	NC_000011.10:g.67584494C>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Gln25Glu	rs755557033	missense variant	-	NC_000011.10:g.67584499C>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ser28Arg	rs752215721	missense variant	-	NC_000011.10:g.67584510C>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ser28Thr	rs764740104	missense variant	-	NC_000011.10:g.67584509G>C	ExAC,gnomAD
GSTP1	P09211	p.Trp29Ter	rs551651791	stop gained	-	NC_000011.10:g.67584513G>A	1000Genomes
GSTP1	P09211	p.Glu31Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67584517G>A	NCI-TCGA
GSTP1	P09211	p.Glu31Asp	rs1304384783	missense variant	-	NC_000011.10:g.67584519G>T	TOPMed,gnomAD
GSTP1	P09211	p.Glu32Val	rs45506591	missense variant	-	NC_000011.10:g.67584521A>T	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Glu32Lys	rs758057623	missense variant	-	NC_000011.10:g.67584520G>A	ExAC,gnomAD
GSTP1	P09211	p.Val33Met	rs1380769044	missense variant	-	NC_000011.10:g.67584523G>A	gnomAD
GSTP1	P09211	p.Val34Leu	rs746780344	missense variant	-	NC_000011.10:g.67584526G>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Val36Met	rs1377458828	missense variant	-	NC_000011.10:g.67584532G>A	gnomAD
GSTP1	P09211	p.Val36Ala	rs757009510	missense variant	-	NC_000011.10:g.67584533T>C	ExAC,gnomAD
GSTP1	P09211	p.Glu37Ter	rs1283707278	stop gained	-	NC_000011.10:g.67584535G>T	TOPMed,gnomAD
GSTP1	P09211	p.Thr38Met	rs1215402584	missense variant	-	NC_000011.10:g.67584539C>T	gnomAD
GSTP1	P09211	p.Trp39Arg	rs745744788	missense variant	-	NC_000011.10:g.67584541T>C	ExAC,gnomAD
GSTP1	P09211	p.Glu41Gly	rs769620801	missense variant	-	NC_000011.10:g.67584548A>G	ExAC,gnomAD
GSTP1	P09211	p.Ser43Leu	rs774481007	missense variant	-	NC_000011.10:g.67584554C>T	ExAC,gnomAD
GSTP1	P09211	p.Ala46Val	rs1164730655	missense variant	-	NC_000011.10:g.67584563C>T	TOPMed
GSTP1	P09211	p.Ser47Thr	rs765505289	missense variant	-	NC_000011.10:g.67584565T>A	TOPMed,gnomAD
GSTP1	P09211	p.Cys48Phe	rs369083008	missense variant	-	NC_000011.10:g.67584569G>T	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Tyr50Ter	rs8191448	stop gained	-	NC_000011.10:g.67584690C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Tyr50His	COSM4927905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67584688T>C	NCI-TCGA Cosmic
GSTP1	P09211	p.Gly51Arg	rs1365217261	missense variant	-	NC_000011.10:g.67584691G>A	gnomAD
GSTP1	P09211	p.Gln52Ter	rs771348326	stop gained	-	NC_000011.10:g.67584694C>T	ExAC
GSTP1	P09211	p.Pro54Arg	rs1217728595	missense variant	-	NC_000011.10:g.67584701C>G	TOPMed,gnomAD
GSTP1	P09211	p.Phe56Ile	rs759868205	missense variant	-	NC_000011.10:g.67584706T>A	ExAC
GSTP1	P09211	p.Asp58Asn	rs45543438	missense variant	-	NC_000011.10:g.67584712G>A	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Leu61His	rs1420873262	missense variant	-	NC_000011.10:g.67584722T>A	TOPMed
GSTP1	P09211	p.Leu61Phe	rs200701643	missense variant	-	NC_000011.10:g.67584721C>T	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Thr62Ile	rs763540257	missense variant	-	NC_000011.10:g.67584725C>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ser66Tyr	rs373014884	missense variant	-	NC_000011.10:g.67584737C>A	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ser66Ala	rs371145062	missense variant	-	NC_000011.10:g.67584736T>G	ESP,TOPMed
GSTP1	P09211	p.Ser66Phe	rs373014884	missense variant	-	NC_000011.10:g.67584737C>T	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Asn67Asp	rs377655015	missense variant	-	NC_000011.10:g.67584739A>G	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Asn67Ser	rs1200793614	missense variant	-	NC_000011.10:g.67584740A>G	TOPMed
GSTP1	P09211	p.Asn67Thr	COSM4402110	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67584740A>C	NCI-TCGA Cosmic
GSTP1	P09211	p.Thr68Ser	COSM1475823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67584743C>G	NCI-TCGA Cosmic
GSTP1	P09211	p.Leu70Arg	rs779929728	missense variant	-	NC_000011.10:g.67584749T>G	ExAC,gnomAD
GSTP1	P09211	p.Arg71Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67584751C>G	NCI-TCGA
GSTP1	P09211	p.Arg71His	rs752731774	missense variant	-	NC_000011.10:g.67584752G>A	ExAC,gnomAD
GSTP1	P09211	p.Arg71Cys	rs1167850587	missense variant	-	NC_000011.10:g.67584751C>T	gnomAD
GSTP1	P09211	p.His72Asn	rs754955382	missense variant	-	NC_000011.10:g.67584754C>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.His72Arg	rs777997068	missense variant	-	NC_000011.10:g.67584755A>G	ExAC,gnomAD
GSTP1	P09211	p.Gly74AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.67584759G>-	NCI-TCGA
GSTP1	P09211	p.Arg75Cys	rs1404050687	missense variant	-	NC_000011.10:g.67584763C>T	gnomAD
GSTP1	P09211	p.Arg75His	rs771256487	missense variant	-	NC_000011.10:g.67584764G>A	ExAC,gnomAD
GSTP1	P09211	p.Arg75Leu	rs771256487	missense variant	-	NC_000011.10:g.67584764G>T	ExAC,gnomAD
GSTP1	P09211	p.Thr76Ser	rs781605862	missense variant	-	NC_000011.10:g.67584767C>G	ExAC,gnomAD
GSTP1	P09211	p.Gly78Arg	rs1401936187	missense variant	-	NC_000011.10:g.67584772G>C	gnomAD
GSTP1	P09211	p.Leu79Phe	rs1281464190	missense variant	-	NC_000011.10:g.67585140C>T	TOPMed,gnomAD
GSTP1	P09211	p.Tyr80His	rs1384444513	missense variant	-	NC_000011.10:g.67585143T>C	gnomAD
GSTP1	P09211	p.Gln84His	rs372794640	missense variant	-	NC_000011.10:g.67585157G>T	ESP
GSTP1	P09211	p.Gln84Lys	rs1415126258	missense variant	-	NC_000011.10:g.67585155C>A	gnomAD
GSTP1	P09211	p.Gln85Arg	rs1466304905	missense variant	-	NC_000011.10:g.67585159A>G	TOPMed
GSTP1	P09211	p.Ala88Ser	rs1336312256	missense variant	-	NC_000011.10:g.67585167G>T	gnomAD
GSTP1	P09211	p.Ala88Asp	rs1404000028	missense variant	-	NC_000011.10:g.67585168C>A	gnomAD
GSTP1	P09211	p.Val90Gly	rs776268350	missense variant	-	NC_000011.10:g.67585174T>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Val90Ala	rs776268350	missense variant	-	NC_000011.10:g.67585174T>C	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Val90Met	rs1310598334	missense variant	-	NC_000011.10:g.67585173G>A	gnomAD
GSTP1	P09211	p.Asp91Glu	rs1237280319	missense variant	-	NC_000011.10:g.67585178C>G	gnomAD
GSTP1	P09211	p.Met92Thr	rs202114011	missense variant	-	NC_000011.10:g.67585180T>C	1000Genomes,ExAC,gnomAD
GSTP1	P09211	p.Met92Val	rs1209215477	missense variant	-	NC_000011.10:g.67585179A>G	gnomAD
GSTP1	P09211	p.Asp95Tyr	rs990829761	missense variant	-	NC_000011.10:g.67585188G>T	gnomAD
GSTP1	P09211	p.Gly96Ser	rs758425456	missense variant	-	NC_000011.10:g.67585191G>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Val97Met	rs374158536	missense variant	-	NC_000011.10:g.67585194G>A	ESP,TOPMed,gnomAD
GSTP1	P09211	p.Asp99Tyr	rs1180757968	missense variant	-	NC_000011.10:g.67585200G>T	gnomAD
GSTP1	P09211	p.Asp99Glu	rs1478519359	missense variant	-	NC_000011.10:g.67585202C>A	gnomAD
GSTP1	P09211	p.Arg101Cys	rs767434442	missense variant	-	NC_000011.10:g.67585206C>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg101His	rs1191943674	missense variant	-	NC_000011.10:g.67585207G>A	TOPMed,gnomAD
GSTP1	P09211	p.Cys102Ser	rs750586939	missense variant	-	NC_000011.10:g.67585210G>C	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Lys103Asn	rs1451964684	missense variant	-	NC_000011.10:g.67585214A>C	TOPMed
GSTP1	P09211	p.Lys103Glu	rs1402998982	missense variant	-	NC_000011.10:g.67585212A>G	gnomAD
GSTP1	P09211	p.Tyr104Cys	rs1259485839	missense variant	-	NC_000011.10:g.67585216A>G	TOPMed
GSTP1	P09211	p.Tyr104Ter	rs765946068	stop gained	-	NC_000011.10:g.67585216dup	ExAC,gnomAD
GSTP1	P09211	p.Ile105Val	RCV000437330	missense variant	Neoplasm of the large intestine	NC_000011.10:g.67585218A>G	ClinVar
GSTP1	P09211	p.Ile105Val	rs1695	missense variant	-	NC_000011.10:g.67585218A>G	UniProt,dbSNP
GSTP1	P09211	p.Ile105Val	VAR_014499	missense variant	-	NC_000011.10:g.67585218A>G	UniProt
GSTP1	P09211	p.Ile105Val	rs1695	missense variant	-	NC_000011.10:g.67585218A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ser106Phe	rs533546581	missense variant	-	NC_000011.10:g.67585222C>T	1000Genomes,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Leu107His	rs1218642610	missense variant	-	NC_000011.10:g.67585225T>A	TOPMed,gnomAD
GSTP1	P09211	p.Leu107Phe	rs749618287	missense variant	-	NC_000011.10:g.67585224C>T	ExAC,gnomAD
GSTP1	P09211	p.Ile108Phe	rs199833944	missense variant	-	NC_000011.10:g.67585227A>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Thr110Ser	rs4986948	missense variant	-	NC_000011.10:g.67585234C>G	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Asn111Asp	rs746579636	missense variant	-	NC_000011.10:g.67585236A>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Tyr112His	rs770460061	missense variant	-	NC_000011.10:g.67585239T>C	ExAC,gnomAD
GSTP1	P09211	p.Tyr112Cys	rs563603340	missense variant	-	NC_000011.10:g.67585240A>G	1000Genomes,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Tyr112Asp	rs770460061	missense variant	-	NC_000011.10:g.67585239T>G	ExAC,gnomAD
GSTP1	P09211	p.Glu113Lys	rs770427889	missense variant	-	NC_000011.10:g.67586104G>A	ExAC
GSTP1	P09211	p.Glu113Gln	rs770427889	missense variant	-	NC_000011.10:g.67586104G>C	ExAC
GSTP1	P09211	p.Ala114Val	rs1138272	missense variant	-	NC_000011.10:g.67586108C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Gly115Asp	rs377625632	missense variant	-	NC_000011.10:g.67586111G>A	ESP,ExAC,gnomAD
GSTP1	P09211	p.Gly115Ser	rs1382173535	missense variant	-	NC_000011.10:g.67586110G>A	gnomAD
GSTP1	P09211	p.Lys116Glu	rs369682039	missense variant	-	NC_000011.10:g.67586113A>G	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Asp117Asn	rs768442916	missense variant	-	NC_000011.10:g.67586116G>A	ExAC,gnomAD
GSTP1	P09211	p.Asp117Tyr	rs768442916	missense variant	-	NC_000011.10:g.67586116G>T	ExAC,gnomAD
GSTP1	P09211	p.Asp118Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67586119G>T	NCI-TCGA
GSTP1	P09211	p.Val120Met	rs774302901	missense variant	-	NC_000011.10:g.67586125G>A	ExAC,gnomAD
GSTP1	P09211	p.Pro124Ala	rs78507509	missense variant	-	NC_000011.10:g.67586137C>G	1000Genomes,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Pro124Ser	rs78507509	missense variant	-	NC_000011.10:g.67586137C>T	1000Genomes,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Gly125Arg	rs377602132	missense variant	-	NC_000011.10:g.67586140G>A	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Gly125Glu	rs759750120	missense variant	-	NC_000011.10:g.67586141G>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Leu127Val	rs765500099	missense variant	-	NC_000011.10:g.67586146C>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Pro129Ser	rs758749778	missense variant	-	NC_000011.10:g.67586152C>T	ExAC,gnomAD
GSTP1	P09211	p.Phe130Val	rs370396702	missense variant	-	NC_000011.10:g.67586155T>G	ESP,TOPMed
GSTP1	P09211	p.Phe130Leu	rs1392957952	missense variant	-	NC_000011.10:g.67586157T>A	TOPMed
GSTP1	P09211	p.Thr132Ile	rs778023522	missense variant	-	NC_000011.10:g.67586162C>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ser135Phe	rs1406534057	missense variant	-	NC_000011.10:g.67586171C>T	gnomAD
GSTP1	P09211	p.Gln138His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67586181G>C	NCI-TCGA
GSTP1	P09211	p.Gln138Ter	rs780849388	stop gained	-	NC_000011.10:g.67586179C>T	ExAC,gnomAD
GSTP1	P09211	p.Gly139Glu	rs71534227	missense variant	-	NC_000011.10:g.67586183G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Gly140Val	rs769545271	missense variant	-	NC_000011.10:g.67586186G>T	ExAC,gnomAD
GSTP1	P09211	p.Lys141Arg	rs553211668	missense variant	-	NC_000011.10:g.67586189A>G	1000Genomes,ExAC,gnomAD
GSTP1	P09211	p.Ile144Leu	rs748921331	missense variant	-	NC_000011.10:g.67586197A>C	ExAC
GSTP1	P09211	p.Ile144Thr	rs199949339	missense variant	-	NC_000011.10:g.67586198T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Gly146Val	COSM1298508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67586204G>T	NCI-TCGA Cosmic
GSTP1	P09211	p.Asp147Tyr	rs4986949	missense variant	-	NC_000011.10:g.67586206G>T	1000Genomes,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Asp147Glu	rs772064183	missense variant	-	NC_000011.10:g.67586208C>A	ExAC,gnomAD
GSTP1	P09211	p.Phe151Leu	rs777261816	missense variant	-	NC_000011.10:g.67586397C>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ala152Thr	rs762120399	missense variant	-	NC_000011.10:g.67586398G>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Asp153Glu	rs750205427	missense variant	-	NC_000011.10:g.67586403C>A	ExAC,gnomAD
GSTP1	P09211	p.Tyr154His	rs750908433	missense variant	-	NC_000011.10:g.67586404T>C	ExAC,gnomAD
GSTP1	P09211	p.Asn155His	rs746337625	missense variant	-	NC_000011.10:g.67586407A>C	ExAC,gnomAD
GSTP1	P09211	p.Asn155Asp	rs746337625	missense variant	-	NC_000011.10:g.67586407A>G	ExAC,gnomAD
GSTP1	P09211	p.Leu157Pro	rs1423718825	missense variant	-	NC_000011.10:g.67586414T>C	gnomAD
GSTP1	P09211	p.Asp158His	rs71534294	missense variant	-	NC_000011.10:g.67586416G>C	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Leu160Met	rs199567349	missense variant	-	NC_000011.10:g.67586422C>A	1000Genomes,ExAC,gnomAD
GSTP1	P09211	p.Ile162Leu	rs201449696	missense variant	-	NC_000011.10:g.67586428A>C	1000Genomes,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.His163Tyr	COSM690340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67586431C>T	NCI-TCGA Cosmic
GSTP1	P09211	p.Leu166Val	rs377297283	missense variant	-	NC_000011.10:g.67586440C>G	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ala167Val	rs369555354	missense variant	-	NC_000011.10:g.67586444C>T	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ala167Asp	COSM1356454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67586444C>A	NCI-TCGA Cosmic
GSTP1	P09211	p.Gly169Asp	rs41462048	missense variant	-	NC_000011.10:g.67586450G>A	-
GSTP1	P09211	p.Gly169Asp	rs41462048	missense variant	-	NC_000011.10:g.67586450G>A	UniProt,dbSNP
GSTP1	P09211	p.Gly169Asp	VAR_049493	missense variant	-	NC_000011.10:g.67586450G>A	UniProt
GSTP1	P09211	p.Gly169Ser	rs746884675	missense variant	-	NC_000011.10:g.67586449G>A	ExAC,gnomAD
GSTP1	P09211	p.Asp172Glu	rs770923997	missense variant	-	NC_000011.10:g.67586460T>G	ExAC,gnomAD
GSTP1	P09211	p.Ala173Val	rs1025117296	missense variant	-	NC_000011.10:g.67586462C>T	gnomAD
GSTP1	P09211	p.Phe174Ser	rs374283345	missense variant	-	NC_000011.10:g.67586465T>C	ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Phe174Ile	rs768896121	missense variant	-	NC_000011.10:g.67586464T>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Phe174Leu	rs768896121	missense variant	-	NC_000011.10:g.67586464T>C	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Pro175Ala	rs1459434861	missense variant	-	NC_000011.10:g.67586467C>G	TOPMed,gnomAD
GSTP1	P09211	p.Pro175Leu	rs772503886	missense variant	-	NC_000011.10:g.67586468C>T	ExAC,gnomAD
GSTP1	P09211	p.Pro175Ser	rs1459434861	missense variant	-	NC_000011.10:g.67586467C>T	TOPMed,gnomAD
GSTP1	P09211	p.Leu176Pro	rs766852045	missense variant	-	NC_000011.10:g.67586471T>C	ExAC,gnomAD
GSTP1	P09211	p.Leu176Met	rs11553892	missense variant	-	NC_000011.10:g.67586470C>A	ExAC,gnomAD
GSTP1	P09211	p.Leu176Val	rs11553892	missense variant	-	NC_000011.10:g.67586470C>G	ExAC,gnomAD
GSTP1	P09211	p.Ser178Leu	COSM931131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67586477C>T	NCI-TCGA Cosmic
GSTP1	P09211	p.Ala179Pro	rs753365034	missense variant	-	NC_000011.10:g.67586479G>C	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Gly182Arg	rs764825565	missense variant	-	NC_000011.10:g.67586488G>C	ExAC,gnomAD
GSTP1	P09211	p.Arg183His	rs188653023	missense variant	-	NC_000011.10:g.67586492G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg183Gly	rs752233998	missense variant	-	NC_000011.10:g.67586491C>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg183Cys	rs752233998	missense variant	-	NC_000011.10:g.67586491C>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg183Pro	COSM3791866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67586492G>C	NCI-TCGA Cosmic
GSTP1	P09211	p.Leu184Phe	rs777541810	missense variant	-	NC_000011.10:g.67586494C>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ala186Ser	rs757168956	missense variant	-	NC_000011.10:g.67586500G>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ala186Thr	rs757168956	missense variant	-	NC_000011.10:g.67586500G>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg187Gln	rs768565704	missense variant	-	NC_000011.10:g.67586504G>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg187Trp	rs45549733	missense variant	-	NC_000011.10:g.67586503C>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Arg187Gly	rs45549733	missense variant	-	NC_000011.10:g.67586503C>G	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Pro188Leu	rs541789217	missense variant	-	NC_000011.10:g.67586507C>T	ExAC,gnomAD
GSTP1	P09211	p.Lys189ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.67586505_67586506insCC	NCI-TCGA
GSTP1	P09211	p.Lys191Arg	rs1039689616	missense variant	-	NC_000011.10:g.67586516A>G	TOPMed,gnomAD
GSTP1	P09211	p.Ala192Val	rs773696694	missense variant	-	NC_000011.10:g.67586519C>T	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Ala192Pro	rs772487496	missense variant	-	NC_000011.10:g.67586518G>C	ExAC,gnomAD
GSTP1	P09211	p.Ala192Asp	rs773696694	missense variant	-	NC_000011.10:g.67586519C>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Phe193Ser	COSM3452346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67586522T>C	NCI-TCGA Cosmic
GSTP1	P09211	p.Leu194Val	rs1332700236	missense variant	-	NC_000011.10:g.67586524C>G	gnomAD
GSTP1	P09211	p.Ala195Val	rs1212970570	missense variant	-	NC_000011.10:g.67586528C>T	gnomAD
GSTP1	P09211	p.Ala195Thr	rs1448232755	missense variant	-	NC_000011.10:g.67586527G>A	gnomAD
GSTP1	P09211	p.Pro197Ala	rs191595383	missense variant	-	NC_000011.10:g.67586533C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Glu198Ala	rs776954260	missense variant	-	NC_000011.10:g.67586537A>C	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Tyr199Ter	rs538776740	stop gained	-	NC_000011.10:g.67586541C>A	1000Genomes,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Val200Leu	rs779834912	missense variant	-	NC_000011.10:g.67586542G>C	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Val200Met	rs779834912	missense variant	-	NC_000011.10:g.67586542G>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Asn201Thr	rs376074280	missense variant	-	NC_000011.10:g.67586546A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Asn201Asp	COSM931134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.67586545A>G	NCI-TCGA Cosmic
GSTP1	P09211	p.Pro203Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.67586552C>T	NCI-TCGA
GSTP1	P09211	p.Ile204Val	rs762582956	missense variant	-	NC_000011.10:g.67586554A>G	ExAC,gnomAD
GSTP1	P09211	p.Asn205Lys	rs1014148882	missense variant	-	NC_000011.10:g.67586559T>G	TOPMed
GSTP1	P09211	p.Asn207His	rs1316398882	missense variant	-	NC_000011.10:g.67586563A>C	gnomAD
GSTP1	P09211	p.Gly208Arg	rs751328497	missense variant	-	NC_000011.10:g.67586566G>A	ExAC,TOPMed,gnomAD
GSTP1	P09211	p.Lys209Ter	rs1248232455	stop gained	-	NC_000011.10:g.67586569A>T	gnomAD
GSTM1	P09488	p.Met3Ile	COSM1332498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109687882G>T	NCI-TCGA Cosmic
GSTM1	P09488	p.Ile4Thr	rs756993138	missense variant	-	NC_000001.11:g.109687884T>C	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Tyr7Cys	rs1173098385	missense variant	-	NC_000001.11:g.109687893A>G	TOPMed,gnomAD
GSTM1	P09488	p.Tyr7Ter	rs373606294	stop gained	-	NC_000001.11:g.109687894C>G	ESP,ExAC,gnomAD
GSTM1	P09488	p.Trp8Ter	rs1192077068	stop gained	-	NC_000001.11:g.109687896G>A	gnomAD
GSTM1	P09488	p.Asp9Glu	rs184653774	missense variant	-	NC_000001.11:g.109687900C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Asp9Asn	rs200184852	missense variant	-	NC_000001.11:g.109687898G>A	1000Genomes
GSTM1	P09488	p.Gly12Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109687907G>A	NCI-TCGA
GSTM1	P09488	p.Gly12Val	rs371083091	missense variant	-	NC_000001.11:g.109687908G>T	ESP,ExAC,gnomAD
GSTM1	P09488	p.Ala14Ser	rs754442437	missense variant	-	NC_000001.11:g.109688173G>T	ExAC,gnomAD
GSTM1	P09488	p.Ala14Thr	rs754442437	missense variant	-	NC_000001.11:g.109688173G>A	ExAC,gnomAD
GSTM1	P09488	p.His15Gln	rs567320393	missense variant	-	NC_000001.11:g.109688178C>A	1000Genomes,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Ala16Val	rs536289169	missense variant	-	NC_000001.11:g.109688180C>T	1000Genomes,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Ala16Thr	rs1344469579	missense variant	-	NC_000001.11:g.109688179G>A	gnomAD
GSTM1	P09488	p.Ile17Val	rs746171781	missense variant	-	NC_000001.11:g.109688182A>G	ExAC,gnomAD
GSTM1	P09488	p.Arg18His	rs376564748	missense variant	-	NC_000001.11:g.109688186G>A	ESP,ExAC
GSTM1	P09488	p.Tyr23Cys	rs553341658	missense variant	-	NC_000001.11:g.109688201A>G	1000Genomes,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Ser26Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.109688210C>G	NCI-TCGA
GSTM1	P09488	p.Ser26Ter	rs774437763	stop gained	-	NC_000001.11:g.109688210C>A	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Ser26Leu	rs774437763	missense variant	-	NC_000001.11:g.109688210C>T	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Ser27Arg	rs12068997	missense variant	-	NC_000001.11:g.109688214C>A	gnomAD
GSTM1	P09488	p.Glu29Val	rs1212314215	missense variant	-	NC_000001.11:g.109688219A>T	TOPMed,gnomAD
GSTM1	P09488	p.Glu30Asp	COSM3862139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109688223A>T	NCI-TCGA Cosmic
GSTM1	P09488	p.Glu30Lys	rs1259669984	missense variant	-	NC_000001.11:g.109688221G>A	gnomAD
GSTM1	P09488	p.Lys31Glu	rs1484761909	missense variant	-	NC_000001.11:g.109688224A>G	TOPMed,gnomAD
GSTM1	P09488	p.Met35Leu	rs773434502	missense variant	-	NC_000001.11:g.109688236A>C	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Ala38Thr	rs1156576312	missense variant	-	NC_000001.11:g.109688245G>A	gnomAD
GSTM1	P09488	p.Tyr41Asn	rs1364241333	missense variant	-	NC_000001.11:g.109688681T>A	gnomAD
GSTM1	P09488	p.Ser44Arg	rs748166413	missense variant	-	NC_000001.11:g.109688690A>C	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Trp46Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.109688698G>A	NCI-TCGA
GSTM1	P09488	p.Glu49Lys	rs772197093	missense variant	-	NC_000001.11:g.109688705G>A	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Lys52Met	rs1402636704	missense variant	-	NC_000001.11:g.109688715A>T	gnomAD
GSTM1	P09488	p.Asn59Ser	rs760927586	missense variant	-	NC_000001.11:g.109688736A>G	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Ala67Thr	rs1191778408	missense variant	-	NC_000001.11:g.109689069G>A	TOPMed,gnomAD
GSTM1	P09488	p.Gln72Pro	rs758844606	missense variant	-	NC_000001.11:g.109689085A>C	ExAC,gnomAD
GSTM1	P09488	p.Ser73Asn	rs778256041	missense variant	-	NC_000001.11:g.109689088G>A	ExAC,gnomAD
GSTM1	P09488	p.Leu77Trp	rs1381092855	missense variant	-	NC_000001.11:g.109689100T>G	gnomAD
GSTM1	P09488	p.Cys78Arg	rs201967146	missense variant	-	NC_000001.11:g.109689102T>C	1000Genomes
GSTM1	P09488	p.Tyr79His	rs1289820434	missense variant	-	NC_000001.11:g.109689105T>C	TOPMed,gnomAD
GSTM1	P09488	p.Arg82His	rs746113233	missense variant	-	NC_000001.11:g.109689115G>A	ExAC,gnomAD
GSTM1	P09488	p.Arg82Cys	rs781451004	missense variant	-	NC_000001.11:g.109689114C>T	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Arg82Leu	rs746113233	missense variant	-	NC_000001.11:g.109689115G>T	ExAC,gnomAD
GSTM1	P09488	p.His84Pro	rs1317720029	missense variant	-	NC_000001.11:g.109689121A>C	gnomAD
GSTM1	P09488	p.His84Tyr	rs1161126530	missense variant	-	NC_000001.11:g.109689120C>T	TOPMed
GSTM1	P09488	p.Asn85Ser	rs147668562	missense variant	-	NC_000001.11:g.109689124A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Asn85Lys	rs146668816	missense variant	-	NC_000001.11:g.109689125C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Gly88Arg	rs1158626531	missense variant	-	NC_000001.11:g.109689227G>A	TOPMed,gnomAD
GSTM1	P09488	p.Thr90Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109689234C>G	NCI-TCGA
GSTM1	P09488	p.Glu92Asp	rs572826828	missense variant	-	NC_000001.11:g.109689241G>C	1000Genomes,ExAC,gnomAD
GSTM1	P09488	p.Arg96Cys	rs781192005	missense variant	-	NC_000001.11:g.109689251C>T	ExAC,gnomAD
GSTM1	P09488	p.Arg96Leu	rs199816990	missense variant	-	NC_000001.11:g.109689252G>T	1000Genomes,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Arg96His	rs199816990	missense variant	-	NC_000001.11:g.109689252G>A	1000Genomes,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Ile99Met	rs1354998497	missense variant	-	NC_000001.11:g.109689262T>G	gnomAD
GSTM1	P09488	p.Asn102Lys	rs780458899	missense variant	-	NC_000001.11:g.109689271C>A	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Thr104Ile	rs1308880096	missense variant	-	NC_000001.11:g.109689276C>T	gnomAD
GSTM1	P09488	p.Met105Thr	rs202002774	missense variant	-	NC_000001.11:g.109689279T>C	1000Genomes,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Met105Val	rs768623239	missense variant	-	NC_000001.11:g.109689278A>G	ExAC,gnomAD
GSTM1	P09488	p.Asp106Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109689282A>G	NCI-TCGA
GSTM1	P09488	p.His108Gln	rs1187051979	missense variant	-	NC_000001.11:g.109689289T>G	TOPMed
GSTM1	P09488	p.His108Arg	rs1249584322	missense variant	-	NC_000001.11:g.109689288A>G	TOPMed
GSTM1	P09488	p.His108Tyr	rs1449627796	missense variant	-	NC_000001.11:g.109689287C>T	TOPMed
GSTM1	P09488	p.Gly112Ser	rs1266513721	missense variant	-	NC_000001.11:g.109689299G>A	TOPMed
GSTM1	P09488	p.Gly112Val	rs1179816349	missense variant	-	NC_000001.11:g.109689300G>T	TOPMed,gnomAD
GSTM1	P09488	p.Tyr116Cys	rs748101558	missense variant	-	NC_000001.11:g.109689312A>G	ExAC,gnomAD
GSTM1	P09488	p.Asn117His	rs1363667431	missense variant	-	NC_000001.11:g.109689314A>C	gnomAD
GSTM1	P09488	p.Asn117Ser	rs1349966213	missense variant	-	NC_000001.11:g.109689315A>G	TOPMed,gnomAD
GSTM1	P09488	p.Pro118Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109689317C>G	NCI-TCGA
GSTM1	P09488	p.Phe120Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109689324T>A	NCI-TCGA
GSTM1	P09488	p.Leu123Arg	COSM893567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109690278T>G	NCI-TCGA Cosmic
GSTM1	P09488	p.Lys126Thr	rs368395434	missense variant	-	NC_000001.11:g.109690287A>C	ESP,ExAC,gnomAD
GSTM1	P09488	p.Tyr127Phe	rs1249221143	missense variant	-	NC_000001.11:g.109690290A>T	gnomAD
GSTM1	P09488	p.Leu128Ser	rs1480110385	missense variant	-	NC_000001.11:g.109690293T>C	TOPMed,gnomAD
GSTM1	P09488	p.Glu129Lys	rs1198347422	missense variant	-	NC_000001.11:g.109690295G>A	gnomAD
GSTM1	P09488	p.Glu130Lys	rs1437688667	missense variant	-	NC_000001.11:g.109690298G>A	TOPMed
GSTM1	P09488	p.Glu140Lys	rs754817204	missense variant	-	NC_000001.11:g.109690328G>A	ExAC,gnomAD
GSTM1	P09488	p.Phe141Leu	rs778632616	missense variant	-	NC_000001.11:g.109690333T>A	ExAC,gnomAD
GSTM1	P09488	p.Arg145Trp	rs142484086	missense variant	-	NC_000001.11:g.109690343C>T	ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Arg145Gln	rs1429155120	missense variant	-	NC_000001.11:g.109690344G>A	gnomAD
GSTM1	P09488	p.Phe148Ser	rs1172626028	missense variant	-	NC_000001.11:g.109690353T>C	gnomAD
GSTM1	P09488	p.Asn151Asp	rs140584594	missense variant	-	NC_000001.11:g.109690361A>G	1000Genomes,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Ile153Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109690454A>G	NCI-TCGA
GSTM1	P09488	p.Ile153Met	rs1452108643	missense variant	-	NC_000001.11:g.109690456C>G	TOPMed
GSTM1	P09488	p.Leu159Val	rs138440339	missense variant	-	NC_000001.11:g.109690472C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Val160Ile	rs766633589	missense variant	-	NC_000001.11:g.109690475G>A	ExAC,gnomAD
GSTM1	P09488	p.Val160Ala	rs146527074	missense variant	-	NC_000001.11:g.109690476T>C	ExAC,gnomAD
GSTM1	P09488	p.Asp162Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109690481G>T	NCI-TCGA
GSTM1	P09488	p.Asp162Val	rs544766466	missense variant	-	NC_000001.11:g.109690482A>T	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Val163Phe	rs1490055622	missense variant	-	NC_000001.11:g.109690484G>T	TOPMed
GSTM1	P09488	p.Leu166Ile	rs149344762	missense variant	-	NC_000001.11:g.109690493C>A	ESP,ExAC,gnomAD
GSTM1	P09488	p.His167Tyr	rs146001438	missense variant	-	NC_000001.11:g.109690496C>T	ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.His167Asn	rs146001438	missense variant	-	NC_000001.11:g.109690496C>A	ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.His167Gln	rs143315534	missense variant	-	NC_000001.11:g.109690498C>G	1000Genomes,ESP,ExAC,gnomAD
GSTM1	P09488	p.Arg168His	rs780734466	missense variant	-	NC_000001.11:g.109690500G>A	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Arg168Cys	rs375154572	missense variant	-	NC_000001.11:g.109690499C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Glu171Gly	rs745391866	missense variant	-	NC_000001.11:g.109690509A>G	ExAC,gnomAD
GSTM1	P09488	p.Pro172His	rs1240418285	missense variant	-	NC_000001.11:g.109690512C>A	gnomAD
GSTM1	P09488	p.Pro172Ser	rs1218647492	missense variant	-	NC_000001.11:g.109690511C>T	gnomAD
GSTM1	P09488	p.Lys173Glu	rs1487970761	missense variant	-	NC_000001.11:g.109690514A>G	gnomAD
GSTM1	P09488	p.Lys173Arg	rs769295127	missense variant	-	NC_000001.11:g.109690515A>G	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Lys173Asn	rs1065411	missense variant	-	NC_000001.11:g.109690516G>T	UniProt,dbSNP
GSTM1	P09488	p.Lys173Asn	VAR_003617	missense variant	-	NC_000001.11:g.109690516G>T	UniProt
GSTM1	P09488	p.Lys173Asn	rs1065411	missense variant	-	NC_000001.11:g.109690516G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Lys173Asn	rs1065411	missense variant	-	NC_000001.11:g.109690516G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Leu175Ser	rs1474361051	missense variant	-	NC_000001.11:g.109690521T>C	gnomAD
GSTM1	P09488	p.Asp176Asn	rs762064926	missense variant	-	NC_000001.11:g.109690523G>A	ExAC,gnomAD
GSTM1	P09488	p.Ala177Pro	rs1156902745	missense variant	-	NC_000001.11:g.109690526G>C	gnomAD
GSTM1	P09488	p.Ala177Ser	rs1156902745	missense variant	-	NC_000001.11:g.109690526G>T	gnomAD
GSTM1	P09488	p.Pro179Ser	rs773852055	missense variant	-	NC_000001.11:g.109690532C>T	ExAC,gnomAD
GSTM1	P09488	p.Pro179Leu	rs72549312	missense variant	-	NC_000001.11:g.109690533C>T	gnomAD
GSTM1	P09488	p.Asn180Asp	rs369344514	missense variant	-	NC_000001.11:g.109690535A>G	ESP,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Phe184Val	COSM3984066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.109690547T>G	NCI-TCGA Cosmic
GSTM1	P09488	p.Ile185Asn	rs1446890310	missense variant	-	NC_000001.11:g.109690551T>A	gnomAD
GSTM1	P09488	p.Ser186Phe	rs1374582670	missense variant	-	NC_000001.11:g.109690554C>T	gnomAD
GSTM1	P09488	p.Arg187Cys	rs72549313	missense variant	-	NC_000001.11:g.109690556C>T	1000Genomes,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Arg187His	rs753904217	missense variant	-	NC_000001.11:g.109690557G>A	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Glu189Lys	rs1353658341	missense variant	-	NC_000001.11:g.109690562G>A	gnomAD
GSTM1	P09488	p.Met198Val	rs1305712180	missense variant	-	NC_000001.11:g.109693230A>G	gnomAD
GSTM1	P09488	p.Ser201Arg	rs1343028679	missense variant	-	NC_000001.11:g.109693241C>A	gnomAD
GSTM1	P09488	p.Arg202His	rs371247780	missense variant	-	NC_000001.11:g.109693243G>A	ESP,gnomAD
GSTM1	P09488	p.Leu204Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.109693248C>A	NCI-TCGA
GSTM1	P09488	p.Leu204Pro	rs1273891660	missense variant	-	NC_000001.11:g.109693249T>C	gnomAD
GSTM1	P09488	p.Arg206Ser	rs1481745571	missense variant	-	NC_000001.11:g.109693256A>T	TOPMed
GSTM1	P09488	p.Ser210Thr	rs449856	missense variant	-	NC_000001.11:g.109693266T>A	1000Genomes,TOPMed,gnomAD
GSTM1	P09488	p.Ala213Thr	rs533860247	missense variant	-	NC_000001.11:g.109693275G>A	1000Genomes,ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Val214Gly	rs771524140	missense variant	-	NC_000001.11:g.109693279T>G	ExAC,gnomAD
GSTM1	P09488	p.Trp215Cys	rs777299993	missense variant	-	NC_000001.11:g.109693283G>C	ExAC,TOPMed,gnomAD
GSTM1	P09488	p.Gly216Val	rs1393211629	missense variant	-	NC_000001.11:g.109693285G>T	TOPMed,gnomAD
GSTM1	P09488	p.Ter219Trp	rs759510582	stop lost	-	NC_000001.11:g.109693294A>G	ExAC,gnomAD
TPM1	P09493	p.Met1Ter	RCV000036324	frameshift	-	NC_000015.10:g.63042831del	ClinVar
TPM1	P09493	p.Asp2His	rs1060501865	missense variant	-	NC_000015.10:g.63042833G>C	-
TPM1	P09493	p.Asp2His	RCV000457778	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63042833G>C	ClinVar
TPM1	P09493	p.Ile4Val	rs730881148	missense variant	-	NC_000015.10:g.63042839A>G	-
TPM1	P09493	p.Ile4Val	RCV000159393	missense variant	-	NC_000015.10:g.63042839A>G	ClinVar
TPM1	P09493	p.Lys5Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63042843A>G	NCI-TCGA
TPM1	P09493	p.Met8Arg	rs397516364	missense variant	-	NC_000015.10:g.63042852T>G	-
TPM1	P09493	p.Met8Arg	RCV000036318	missense variant	Primary dilated cardiomyopathy (DCM)	NC_000015.10:g.63042852T>G	ClinVar
TPM1	P09493	p.Gln9Leu	RCV000521387	missense variant	-	NC_000015.10:g.63042855A>T	ClinVar
TPM1	P09493	p.Gln9Lys	RCV000619514	missense variant	-	NC_000015.10:g.63042854C>A	ClinVar
TPM1	P09493	p.Gln9Leu	rs1555402931	missense variant	-	NC_000015.10:g.63042855A>T	-
TPM1	P09493	p.Gln9Lys	RCV000159394	missense variant	-	NC_000015.10:g.63042854C>A	ClinVar
TPM1	P09493	p.Gln9Lys	rs730881149	missense variant	-	NC_000015.10:g.63042854C>A	-
TPM1	P09493	p.Leu13Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63042866C>T	NCI-TCGA
TPM1	P09493	p.Asp14Tyr	rs876661210	missense variant	-	NC_000015.10:g.63042869G>T	-
TPM1	P09493	p.Asp14Tyr	RCV000213187	missense variant	-	NC_000015.10:g.63042869G>T	ClinVar
TPM1	P09493	p.Lys15Asn	rs199476301	missense variant	-	NC_000015.10:g.63042874G>T	ExAC,gnomAD
TPM1	P09493	p.Lys15Arg	rs869025539	missense variant	-	NC_000015.10:g.63042873A>G	-
TPM1	P09493	p.Lys15Asn	RCV000024588	missense variant	-	NC_000015.10:g.63042874G>T	ClinVar
TPM1	P09493	p.Lys15Arg	RCV000208520	missense variant	Left ventricular noncompaction cardiomyopathy	NC_000015.10:g.63042873A>G	ClinVar
TPM1	P09493	p.Glu16Gln	RCV000159395	missense variant	-	NC_000015.10:g.63042875G>C	ClinVar
TPM1	P09493	p.Glu16Gln	rs727504290	missense variant	-	NC_000015.10:g.63042875G>C	-
TPM1	P09493	p.Glu16Gln	RCV000154303	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63042875G>C	ClinVar
TPM1	P09493	p.Asn17Lys	rs878854150	missense variant	-	NC_000015.10:g.63042880C>G	TOPMed,gnomAD
TPM1	P09493	p.Asn17Lys	rs878854150	missense variant	-	NC_000015.10:g.63042880C>A	TOPMed,gnomAD
TPM1	P09493	p.Asn17Lys	RCV000227176	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63042880C>G	ClinVar
TPM1	P09493	p.Asp20Asn	rs727504391	missense variant	-	NC_000015.10:g.63042887G>A	-
TPM1	P09493	p.Asp20Asn	RCV000766942	missense variant	-	NC_000015.10:g.63042887G>A	ClinVar
TPM1	P09493	p.Asp20Asn	RCV000154553	missense variant	-	NC_000015.10:g.63042887G>A	ClinVar
TPM1	P09493	p.Arg21Leu	rs730881151	missense variant	-	NC_000015.10:g.63042891G>T	ExAC,TOPMed,gnomAD
TPM1	P09493	p.Arg21Leu	RCV000201492	missense variant	Familial hypertrophic cardiomyopathy 3 (CMH3)	NC_000015.10:g.63042891G>T	ClinVar
TPM1	P09493	p.Ala22Thr	RCV000036351	missense variant	-	NC_000015.10:g.63042893G>A	ClinVar
TPM1	P09493	p.Ala22Thr	rs397516382	missense variant	-	NC_000015.10:g.63042893G>A	1000Genomes,ExAC,TOPMed,gnomAD
TPM1	P09493	p.Ala22Thr	RCV000618601	missense variant	-	NC_000015.10:g.63042893G>A	ClinVar
TPM1	P09493	p.Ala22Thr	RCV000223842	missense variant	-	NC_000015.10:g.63042893G>A	ClinVar
TPM1	P09493	p.Glu23Asp	rs876661396	missense variant	-	NC_000015.10:g.63042898G>C	-
TPM1	P09493	p.Glu23Gln	rs199476302	missense variant	-	NC_000015.10:g.63042896G>C	-
TPM1	P09493	p.Glu23Asp	RCV000223855	missense variant	-	NC_000015.10:g.63042898G>C	ClinVar
TPM1	P09493	p.Glu23Gln	RCV000024589	missense variant	-	NC_000015.10:g.63042896G>C	ClinVar
TPM1	P09493	p.Glu26Gly	RCV000157543	missense variant	Primary familial hypertrophic cardiomyopathy (HCM)	NC_000015.10:g.63042906A>G	ClinVar
TPM1	P09493	p.Glu26Gly	rs730880234	missense variant	-	NC_000015.10:g.63042906A>G	-
TPM1	P09493	p.Ala27Val	rs1346512134	missense variant	-	NC_000015.10:g.63042909C>T	gnomAD
TPM1	P09493	p.Asp28Asn	rs397516391	missense variant	-	NC_000015.10:g.63042911G>A	TOPMed,gnomAD
TPM1	P09493	p.Asp28His	RCV000766945	missense variant	-	NC_000015.10:g.63042911G>C	ClinVar
TPM1	P09493	p.Asp28Asn	RCV000621745	missense variant	-	NC_000015.10:g.63042911G>A	ClinVar
TPM1	P09493	p.Asp28Asn	RCV000036363	missense variant	-	NC_000015.10:g.63042911G>A	ClinVar
TPM1	P09493	p.Asp28His	rs397516391	missense variant	-	NC_000015.10:g.63042911G>C	TOPMed,gnomAD
TPM1	P09493	p.Asp28Tyr	rs397516391	missense variant	-	NC_000015.10:g.63042911G>T	TOPMed,gnomAD
TPM1	P09493	p.Asp28Asn	RCV000769476	missense variant	Cardiomyopathy (CMYO)	NC_000015.10:g.63042911G>A	ClinVar
TPM1	P09493	p.Asp28Asn	RCV000766946	missense variant	-	NC_000015.10:g.63042911G>A	ClinVar
TPM1	P09493	p.Asp28Asn	RCV000768533	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63042911G>A	ClinVar
TPM1	P09493	p.Lys29Glu	rs1255071660	missense variant	-	NC_000015.10:g.63042914A>G	gnomAD
TPM1	P09493	p.Lys30Arg	rs1447267149	missense variant	-	NC_000015.10:g.63042918A>G	gnomAD
TPM1	P09493	p.Lys30Ala	rs1555402999	missense variant	-	NC_000015.10:g.63042917_63042918delinsGC	-
TPM1	P09493	p.Lys30Ala	RCV000531857	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63042917_63042918delinsGC	ClinVar
TPM1	P09493	p.Ala31Thr	RCV000036370	missense variant	-	NC_000015.10:g.63042920G>A	ClinVar
TPM1	P09493	p.Ala31Glu	rs749500508	missense variant	-	NC_000015.10:g.63042921C>A	ExAC,gnomAD
TPM1	P09493	p.Ala31Thr	rs397516396	missense variant	-	NC_000015.10:g.63042920G>A	-
TPM1	P09493	p.Glu33Ala	RCV000543459	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63042927A>C	ClinVar
TPM1	P09493	p.Glu33Lys	RCV000036371	missense variant	-	NC_000015.10:g.63042926G>A	ClinVar
TPM1	P09493	p.Glu33Lys	rs397516397	missense variant	-	NC_000015.10:g.63042926G>A	-
TPM1	P09493	p.Glu33Gly	COSM4937699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63042927A>G	NCI-TCGA Cosmic
TPM1	P09493	p.Arg35Ser	rs1448738061	missense variant	-	NC_000015.10:g.63042934G>C	gnomAD
TPM1	P09493	p.Arg35Lys	rs730881152	missense variant	-	NC_000015.10:g.63042933G>A	TOPMed
TPM1	P09493	p.Arg35Lys	RCV000776457	missense variant	Cardiomyopathy (CMYO)	NC_000015.10:g.63042933G>A	ClinVar
TPM1	P09493	p.Arg35Thr	rs730881152	missense variant	-	NC_000015.10:g.63042933G>C	TOPMed
TPM1	P09493	p.Arg35Thr	RCV000159402	missense variant	-	NC_000015.10:g.63042933G>C	ClinVar
TPM1	P09493	p.Ser36Gly	RCV000769477	missense variant	Cardiomyopathy (CMYO)	NC_000015.10:g.63042935A>G	ClinVar
TPM1	P09493	p.Ser36Asn	rs1174194983	missense variant	-	NC_000015.10:g.63042936G>A	gnomAD
TPM1	P09493	p.Lys37Glu	RCV000024593	missense variant	-	NC_000015.10:g.63042938A>G	ClinVar
TPM1	P09493	p.Lys37Glu	rs199476303	missense variant	-	NC_000015.10:g.63042938A>G	-
TPM1	P09493	p.Gln38Glu	RCV000462958	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63042941C>G	ClinVar
TPM1	P09493	p.Gln38Glu	rs1060501863	missense variant	-	NC_000015.10:g.63042941C>G	-
TPM1	P09493	p.Glu40Gln	rs104894501	missense variant	-	NC_000015.10:g.63044030G>C	TOPMed,gnomAD
TPM1	P09493	p.Glu40Ter	RCV000766947	nonsense	-	NC_000015.10:g.63044030G>T	ClinVar
TPM1	P09493	p.Glu40Ter	RCV000700155	nonsense	Hypertrophic cardiomyopathy	NC_000015.10:g.63044030G>T	ClinVar
TPM1	P09493	p.Glu40Lys	rs104894501	missense variant	-	NC_000015.10:g.63044030G>A	TOPMed,gnomAD
TPM1	P09493	p.Glu40Ter	rs104894501	stop gained	-	NC_000015.10:g.63044030G>T	TOPMed,gnomAD
TPM1	P09493	p.Glu40Lys	rs104894501	missense variant	Cardiomyopathy, dilated 1Y (CMD1Y)	NC_000015.10:g.63044030G>A	UniProt,dbSNP
TPM1	P09493	p.Glu40Lys	VAR_043986	missense variant	Cardiomyopathy, dilated 1Y (CMD1Y)	NC_000015.10:g.63044030G>A	UniProt
TPM1	P09493	p.Glu40Ter	RCV000036315	nonsense	-	NC_000015.10:g.63044030G>T	ClinVar
TPM1	P09493	p.Glu40Lys	RCV000013275	missense variant	Dilated cardiomyopathy 1Y (CMD1Y)	NC_000015.10:g.63044030G>A	ClinVar
TPM1	P09493	p.Glu40Ter	RCV000621859	nonsense	-	NC_000015.10:g.63044030G>T	ClinVar
TPM1	P09493	p.Glu40Gln	RCV000488962	missense variant	-	NC_000015.10:g.63044030G>C	ClinVar
TPM1	P09493	p.Val44Leu	rs1406954948	missense variant	-	NC_000015.10:g.63044042G>T	gnomAD
TPM1	P09493	p.Ser45Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63044046C>T	NCI-TCGA
TPM1	P09493	p.Gln47Arg	rs1060501864	missense variant	-	NC_000015.10:g.63044052A>G	-
TPM1	P09493	p.Gln47Arg	RCV000469579	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63044052A>G	ClinVar
TPM1	P09493	p.Lys48Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63044054A>G	NCI-TCGA
TPM1	P09493	p.Leu50Phe	rs1060501866	missense variant	-	NC_000015.10:g.63044060C>T	-
TPM1	P09493	p.Leu50Ile	rs1060501866	missense variant	-	NC_000015.10:g.63044060C>A	-
TPM1	P09493	p.Leu50Phe	RCV000530381	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63044060C>T	ClinVar
TPM1	P09493	p.Leu50Ile	RCV000464388	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63044060C>A	ClinVar
TPM1	P09493	p.Lys51Arg	RCV000701909	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63044064A>G	ClinVar
TPM1	P09493	p.Gly52Val	rs757460987	missense variant	-	NC_000015.10:g.63044067G>T	ExAC,gnomAD
TPM1	P09493	p.Gly52Ser	rs730881127	missense variant	-	NC_000015.10:g.63044066G>A	-
TPM1	P09493	p.Gly52Ser	RCV000159348	missense variant	-	NC_000015.10:g.63044066G>A	ClinVar
TPM1	P09493	p.Glu54Lys	rs104894505	missense variant	Cardiomyopathy, dilated 1Y (CMD1Y)	NC_000015.10:g.63044072G>A	UniProt,dbSNP
TPM1	P09493	p.Glu54Lys	VAR_043987	missense variant	Cardiomyopathy, dilated 1Y (CMD1Y)	NC_000015.10:g.63044072G>A	UniProt
TPM1	P09493	p.Glu54Lys	rs104894505	missense variant	-	NC_000015.10:g.63044072G>A	-
TPM1	P09493	p.Glu54Lys	RCV000159370	missense variant	-	NC_000015.10:g.63044072G>A	ClinVar
TPM1	P09493	p.Asp55Gly	RCV000706303	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63044076A>G	ClinVar
TPM1	P09493	p.Asp55Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63044077T>G	NCI-TCGA
TPM1	P09493	p.Asp55Asn	rs397516363	missense variant	-	NC_000015.10:g.63044075G>A	-
TPM1	P09493	p.Asp55Asn	RCV000036316	missense variant	Primary dilated cardiomyopathy (DCM)	NC_000015.10:g.63044075G>A	ClinVar
TPM1	P09493	p.Asp58His	RCV000456653	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63044084G>C	ClinVar
TPM1	P09493	p.Tyr60Cys	COSM4923198	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63044091A>G	NCI-TCGA Cosmic
TPM1	P09493	p.Ser61LeuPheSerTerUnkUnk	COSM1478249	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.63044092C>-	NCI-TCGA Cosmic
TPM1	P09493	p.Glu62Gln	RCV000768494	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63044096G>C	ClinVar
TPM1	P09493	p.Ala63Thr	rs1064796782	missense variant	-	NC_000015.10:g.63044099G>A	-
TPM1	P09493	p.Ala63Val	rs199476306	missense variant	Cardiomyopathy, familial hypertrophic 3 (CMH3)	NC_000015.10:g.63044100C>T	UniProt,dbSNP
TPM1	P09493	p.Ala63Val	VAR_013135	missense variant	Cardiomyopathy, familial hypertrophic 3 (CMH3)	NC_000015.10:g.63044100C>T	UniProt
TPM1	P09493	p.Ala63Val	RCV000619544	missense variant	-	NC_000015.10:g.63044100C>T	ClinVar
TPM1	P09493	p.Ala63Thr	RCV000478328	missense variant	-	NC_000015.10:g.63044099G>A	ClinVar
TPM1	P09493	p.Asp66His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63044108G>C	NCI-TCGA
TPM1	P09493	p.Ala67Val	COSM1587957	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63044112C>T	NCI-TCGA Cosmic
TPM1	P09493	p.Lys70Thr	rs199476307	missense variant	-	NC_000015.10:g.63044121A>C	-
TPM1	P09493	p.Lys70Thr	RCV000024574	missense variant	-	NC_000015.10:g.63044121A>C	ClinVar
TPM1	P09493	p.Leu71Val	RCV000159376	missense variant	-	NC_000015.10:g.63044123C>G	ClinVar
TPM1	P09493	p.Leu71Val	rs730881143	missense variant	-	NC_000015.10:g.63044123C>G	-
TPM1	P09493	p.Glu72Lys	RCV000769479	missense variant	Cardiomyopathy (CMYO)	NC_000015.10:g.63044126G>A	ClinVar
TPM1	P09493	p.Glu72Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.63044126G>T	NCI-TCGA
TPM1	P09493	p.Glu72Gly	rs1358909905	missense variant	-	NC_000015.10:g.63044127A>G	gnomAD
TPM1	P09493	p.Lys76Glu	rs1555403432	missense variant	-	NC_000015.10:g.63044138A>G	-
TPM1	P09493	p.Lys76Glu	RCV000560089	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63044138A>G	ClinVar
TPM1	P09493	p.Asp80Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63044150G>A	NCI-TCGA
TPM1	P09493	p.Ala83Asp	rs730881130	missense variant	-	NC_000015.10:g.63056992C>A	-
TPM1	P09493	p.Ala83Asp	RCV000159355	missense variant	-	NC_000015.10:g.63056992C>A	ClinVar
TPM1	P09493	p.Asp84Glu	RCV000036320	missense variant	-	NC_000015.10:g.63056996C>G	ClinVar
TPM1	P09493	p.Asp84Asn	rs754664923	missense variant	-	NC_000015.10:g.63056994G>A	ExAC,gnomAD
TPM1	P09493	p.Asp84Glu	rs369617788	missense variant	-	NC_000015.10:g.63056996C>G	ESP,ExAC,TOPMed,gnomAD
TPM1	P09493	p.Asp84Asn	RCV000242724	missense variant	-	NC_000015.10:g.63056994G>A	ClinVar
TPM1	P09493	p.Val85Leu	rs730881156	missense variant	-	NC_000015.10:g.63056997G>T	ExAC,gnomAD
TPM1	P09493	p.Val85Leu	RCV000786233	missense variant	-	NC_000015.10:g.63056997G>T	ClinVar
TPM1	P09493	p.Val85Leu	RCV000544344	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63056997G>T	ClinVar
TPM1	P09493	p.Val85Ile	RCV000534139	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63056997G>A	ClinVar
TPM1	P09493	p.Val85Ile	rs730881156	missense variant	-	NC_000015.10:g.63056997G>A	ExAC,gnomAD
TPM1	P09493	p.Ala86Gly	rs757577112	missense variant	-	NC_000015.10:g.63057001C>G	ExAC,gnomAD
TPM1	P09493	p.Ala86Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63057001C>A	NCI-TCGA
TPM1	P09493	p.Ala86Gly	RCV000208058	missense variant	Primary dilated cardiomyopathy (DCM)	NC_000015.10:g.63057001C>G	ClinVar
TPM1	P09493	p.Ser87His	NCI-TCGA novel	insertion	-	NC_000015.10:g.63057004_63057005insTCA	NCI-TCGA
TPM1	P09493	p.Ser87PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63057003_63057004insTTATTAAAATTAGGTTGGTTTTA	NCI-TCGA
TPM1	P09493	p.Leu88Val	RCV000560434	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63057006C>G	ClinVar
TPM1	P09493	p.Leu88Val	rs1555407795	missense variant	-	NC_000015.10:g.63057006C>G	-
TPM1	P09493	p.Asn89Lys	RCV000489107	missense variant	-	NC_000015.10:g.63057011C>G	ClinVar
TPM1	P09493	p.Asn89Lys	rs1085307487	missense variant	-	NC_000015.10:g.63057011C>G	-
TPM1	P09493	p.Arg91Cys	rs1266444831	missense variant	-	NC_000015.10:g.63057015C>T	gnomAD
TPM1	P09493	p.Arg91His	rs1477561695	missense variant	-	NC_000015.10:g.63057016G>A	TOPMed,gnomAD
TPM1	P09493	p.Ile92Met	rs730881157	missense variant	-	NC_000015.10:g.63057020C>G	-
TPM1	P09493	p.Ile92Met	RCV000159408	missense variant	-	NC_000015.10:g.63057020C>G	ClinVar
TPM1	P09493	p.Ile92Thr	RCV000024587	missense variant	-	NC_000015.10:g.63057019T>C	ClinVar
TPM1	P09493	p.Gln93Arg	rs746394586	missense variant	-	NC_000015.10:g.63057022A>G	ExAC,gnomAD
TPM1	P09493	p.Val95Gly	COSM3502945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63057028T>G	NCI-TCGA Cosmic
TPM1	P09493	p.Val95Ala	RCV000619092	missense variant	-	NC_000015.10:g.63057028T>C	ClinVar
TPM1	P09493	p.Glu97Gln	rs1064793284	missense variant	-	NC_000015.10:g.63057033G>C	-
TPM1	P09493	p.Glu97Gln	RCV000482070	missense variant	-	NC_000015.10:g.63057033G>C	ClinVar
TPM1	P09493	p.Arg101His	rs747907799	missense variant	-	NC_000015.10:g.63057046G>A	ExAC,gnomAD
TPM1	P09493	p.Arg101Gly	rs769069020	missense variant	-	NC_000015.10:g.63057045C>G	ExAC,gnomAD
TPM1	P09493	p.Arg101Cys	rs769069020	missense variant	-	NC_000015.10:g.63057045C>T	ExAC,gnomAD
TPM1	P09493	p.Ala102Asp	rs397516367	missense variant	-	NC_000015.10:g.63057049C>A	-
TPM1	P09493	p.Ala102Asp	RCV000036325	missense variant	-	NC_000015.10:g.63057049C>A	ClinVar
TPM1	P09493	p.Arg105His	RCV000773445	missense variant	Cardiomyopathy (CMYO)	NC_000015.10:g.63057058G>A	ClinVar
TPM1	P09493	p.Arg105His	rs773149185	missense variant	-	NC_000015.10:g.63057058G>A	ExAC,TOPMed,gnomAD
TPM1	P09493	p.Thr108Ile	rs762922595	missense variant	-	NC_000015.10:g.63057067C>T	ExAC,gnomAD
TPM1	P09493	p.Leu113Val	RCV000736014	missense variant	Left ventricular noncompaction 9 (LVNC9)	NC_000015.10:g.63057081C>G	ClinVar
TPM1	P09493	p.Glu114Gly	rs397516370	missense variant	-	NC_000015.10:g.63057085A>G	-
TPM1	P09493	p.Glu114Gly	RCV000036328	missense variant	Primary dilated cardiomyopathy (DCM)	NC_000015.10:g.63057085A>G	ClinVar
TPM1	P09493	p.Glu115Lys	rs727504313	missense variant	-	NC_000015.10:g.63057087G>A	-
TPM1	P09493	p.Glu115Lys	RCV000766948	missense variant	-	NC_000015.10:g.63057087G>A	ClinVar
TPM1	P09493	p.Glu115Lys	RCV000154378	missense variant	-	NC_000015.10:g.63057087G>A	ClinVar
TPM1	P09493	p.Lys118Asn	rs773916751	missense variant	-	NC_000015.10:g.63057098G>T	ExAC,gnomAD
TPM1	P09493	p.Lys118Ter	COSM3502955	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.63057096A>T	NCI-TCGA Cosmic
TPM1	P09493	p.Ala119Thr	rs759173967	missense variant	-	NC_000015.10:g.63057099G>A	ExAC,gnomAD
TPM1	P09493	p.Glu122Lys	rs876658031	missense variant	-	NC_000015.10:g.63057108G>A	-
TPM1	P09493	p.Glu122Lys	RCV000217804	missense variant	-	NC_000015.10:g.63057108G>A	ClinVar
TPM1	P09493	p.Gly126Val	RCV000701011	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63059565G>T	ClinVar
TPM1	P09493	p.Met127Ile	rs201211957	missense variant	-	NC_000015.10:g.63059569G>A	-
TPM1	P09493	p.Met127Ile	RCV000172140	missense variant	-	NC_000015.10:g.63059569G>A	ClinVar
TPM1	P09493	p.Ile130Val	RCV000491526	missense variant	Pulmonary atresia with intact ventricular septum	NC_000015.10:g.63059576A>G	ClinVar
TPM1	P09493	p.Ile130Thr	RCV000786231	missense variant	-	NC_000015.10:g.63059577T>C	ClinVar
TPM1	P09493	p.Ile130Thr	RCV000619274	missense variant	-	NC_000015.10:g.63059577T>C	ClinVar
TPM1	P09493	p.Ile130Thr	RCV000152117	missense variant	-	NC_000015.10:g.63059577T>C	ClinVar
TPM1	P09493	p.Ile130Thr	RCV000549273	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63059577T>C	ClinVar
TPM1	P09493	p.Ile130Val	rs1114167355	missense variant	-	NC_000015.10:g.63059576A>G	-
TPM1	P09493	p.Ile130Thr	rs727503517	missense variant	-	NC_000015.10:g.63059577T>C	-
TPM1	P09493	p.Arg133Ter	rs1005672618	stop gained	-	NC_000015.10:g.63059585C>T	gnomAD
TPM1	P09493	p.Gln135Ter	rs11558749	stop gained	-	NC_000015.10:g.63059591C>T	gnomAD
TPM1	P09493	p.Gln135Lys	rs11558749	missense variant	-	NC_000015.10:g.63059591C>A	gnomAD
TPM1	P09493	p.Gln135Lys	RCV000024582	missense variant	-	NC_000015.10:g.63059591C>A	ClinVar
TPM1	P09493	p.Asp137Gly	rs730881134	missense variant	-	NC_000015.10:g.63059598A>G	ExAC,TOPMed,gnomAD
TPM1	P09493	p.Asp137Val	rs730881134	missense variant	-	NC_000015.10:g.63059598A>T	ExAC,TOPMed,gnomAD
TPM1	P09493	p.Asp137Glu	rs1555408631	missense variant	-	NC_000015.10:g.63059599T>A	-
TPM1	P09493	p.Asp137Glu	RCV000521302	missense variant	-	NC_000015.10:g.63059599T>A	ClinVar
TPM1	P09493	p.Asp137Val	RCV000159360	missense variant	-	NC_000015.10:g.63059598A>T	ClinVar
TPM1	P09493	p.Glu138Lys	rs879253758	missense variant	-	NC_000015.10:g.63059600G>A	-
TPM1	P09493	p.Glu138Lys	RCV000234880	missense variant	-	NC_000015.10:g.63059600G>A	ClinVar
TPM1	P09493	p.Glu139Val	rs727504389	missense variant	-	NC_000015.10:g.63059604A>T	-
TPM1	P09493	p.Glu139Val	RCV000154548	missense variant	Primary dilated cardiomyopathy (DCM)	NC_000015.10:g.63059604A>T	ClinVar
TPM1	P09493	p.Lys140Gln	RCV000159361	missense variant	-	NC_000015.10:g.63059606A>C	ClinVar
TPM1	P09493	p.Lys140Gln	rs730881135	missense variant	-	NC_000015.10:g.63059606A>C	-
TPM1	P09493	p.Met141Ile	rs397516371	missense variant	-	NC_000015.10:g.63059611G>C	-
TPM1	P09493	p.Met141Ile	RCV000036330	missense variant	Primary dilated cardiomyopathy (DCM)	NC_000015.10:g.63059611G>C	ClinVar
TPM1	P09493	p.Glu142Lys	rs1555408649	missense variant	-	NC_000015.10:g.63059612G>A	-
TPM1	P09493	p.Glu142Lys	RCV000610234	missense variant	-	NC_000015.10:g.63059612G>A	ClinVar
TPM1	P09493	p.Ile143Ser	rs730881136	missense variant	-	NC_000015.10:g.63059616T>G	-
TPM1	P09493	p.Ile143Ser	RCV000159362	missense variant	-	NC_000015.10:g.63059616T>G	ClinVar
TPM1	P09493	p.Gln144Ter	rs1206044252	stop gained	-	NC_000015.10:g.63059618C>T	TOPMed
TPM1	P09493	p.Gln144Arg	RCV000769480	missense variant	Cardiomyopathy (CMYO)	NC_000015.10:g.63059619A>G	ClinVar
TPM1	P09493	p.His153Tyr	rs397516372	missense variant	-	NC_000015.10:g.63059645C>T	gnomAD
TPM1	P09493	p.His153Arg	RCV000156470	missense variant	-	NC_000015.10:g.63059646A>G	ClinVar
TPM1	P09493	p.His153Arg	rs727505043	missense variant	-	NC_000015.10:g.63059646A>G	-
TPM1	P09493	p.His153Gln	rs771515165	missense variant	-	NC_000015.10:g.63059647C>A	ExAC,gnomAD
TPM1	P09493	p.His153Asp	rs397516372	missense variant	-	NC_000015.10:g.63059645C>G	gnomAD
TPM1	P09493	p.His153Asp	RCV000527568	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63059645C>G	ClinVar
TPM1	P09493	p.Ile154Val	RCV000612144	missense variant	-	NC_000015.10:g.63059648A>G	ClinVar
TPM1	P09493	p.Ala155Pro	COSM1478250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63059651G>C	NCI-TCGA Cosmic
TPM1	P09493	p.Asp159Asn	RCV000736013	missense variant	Left ventricular noncompaction 9 (LVNC9)	NC_000015.10:g.63059663G>A	ClinVar
TPM1	P09493	p.Asp159Asn	RCV000694039	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63059663G>A	ClinVar
TPM1	P09493	p.Arg160His	RCV000036336	missense variant	Primary dilated cardiomyopathy (DCM)	NC_000015.10:g.63059667G>A	ClinVar
TPM1	P09493	p.Arg160His	rs199476311	missense variant	-	NC_000015.10:g.63059667G>A	gnomAD
TPM1	P09493	p.Arg160Cys	COSM1373913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63059666C>T	NCI-TCGA Cosmic
TPM1	P09493	p.Val165Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63060869G>T	NCI-TCGA
TPM1	P09493	p.Ala166Thr	RCV000221536	missense variant	Primary dilated cardiomyopathy (DCM)	NC_000015.10:g.63060872G>A	ClinVar
TPM1	P09493	p.Ala166Thr	rs876657662	missense variant	-	NC_000015.10:g.63060872G>A	-
TPM1	P09493	p.Arg167Gly	COSM1478252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63060875C>G	NCI-TCGA Cosmic
TPM1	P09493	p.Val170Ile	rs1555409095	missense variant	-	NC_000015.10:g.63060884G>A	-
TPM1	P09493	p.Val170Ile	RCV000505992	missense variant	-	NC_000015.10:g.63060884G>A	ClinVar
TPM1	P09493	p.Ile171Met	rs730881137	missense variant	-	NC_000015.10:g.63060889C>G	gnomAD
TPM1	P09493	p.Ile171Leu	rs774903903	missense variant	-	NC_000015.10:g.63060887A>C	ExAC,TOPMed,gnomAD
TPM1	P09493	p.Ile171Val	rs774903903	missense variant	-	NC_000015.10:g.63060887A>G	ExAC,TOPMed,gnomAD
TPM1	P09493	p.Ile171Leu	RCV000203900	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63060887A>C	ClinVar
TPM1	P09493	p.Ile171Met	RCV000159363	missense variant	-	NC_000015.10:g.63060889C>G	ClinVar
TPM1	P09493	p.Ile172Leu	rs760374266	missense variant	-	NC_000015.10:g.63060890A>C	ExAC,gnomAD
TPM1	P09493	p.Ile172Leu	RCV000489447	missense variant	-	NC_000015.10:g.63060890A>C	ClinVar
TPM1	P09493	p.Ile172Met	RCV000159365	missense variant	-	NC_000015.10:g.63060892T>G	ClinVar
TPM1	P09493	p.Ile172Phe	RCV000620267	missense variant	-	NC_000015.10:g.63060890A>T	ClinVar
TPM1	P09493	p.Ile172Thr	RCV000148916	missense variant	Primary familial hypertrophic cardiomyopathy (HCM)	NC_000015.10:g.63060891T>C	ClinVar
TPM1	P09493	p.Ile172Thr	rs199476312	missense variant	-	NC_000015.10:g.63060891T>C	ESP,ExAC
TPM1	P09493	p.Ile172Phe	rs760374266	missense variant	-	NC_000015.10:g.63060890A>T	ExAC,gnomAD
TPM1	P09493	p.Ile172Met	rs730881138	missense variant	-	NC_000015.10:g.63060892T>G	-
TPM1	P09493	p.Glu173Asp	rs886037905	missense variant	-	NC_000015.10:g.63060895G>C	gnomAD
TPM1	P09493	p.Glu173Asp	RCV000240649	missense variant	Dilated cardiomyopathy 1Y (CMD1Y)	NC_000015.10:g.63060895G>C	ClinVar
TPM1	P09493	p.Asp175Asn	RCV000036340	missense variant	Primary familial hypertrophic cardiomyopathy (HCM)	NC_000015.10:g.63060899G>A	ClinVar
TPM1	P09493	p.Asp175Asn	RCV000474684	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63060899G>A	ClinVar
TPM1	P09493	p.Asp175Asn	RCV000013272	missense variant	Familial hypertrophic cardiomyopathy 3 (CMH3)	NC_000015.10:g.63060899G>A	ClinVar
TPM1	P09493	p.Asp175Asn	RCV000622165	missense variant	-	NC_000015.10:g.63060899G>A	ClinVar
TPM1	P09493	p.Asp175Gly	RCV000243279	missense variant	-	NC_000015.10:g.63060900A>G	ClinVar
TPM1	P09493	p.Asp175Asn	rs104894503	missense variant	-	NC_000015.10:g.63060899G>A	TOPMed,gnomAD
TPM1	P09493	p.Asp175Asn	rs104894503	missense variant	Cardiomyopathy, familial hypertrophic 3 (CMH3)	NC_000015.10:g.63060899G>A	UniProt,dbSNP
TPM1	P09493	p.Asp175Asn	VAR_007601	missense variant	Cardiomyopathy, familial hypertrophic 3 (CMH3)	NC_000015.10:g.63060899G>A	UniProt
TPM1	P09493	p.Asp175Gly	rs886039024	missense variant	-	NC_000015.10:g.63060900A>G	-
TPM1	P09493	p.Asp175Asn	RCV000159366	missense variant	-	NC_000015.10:g.63060899G>A	ClinVar
TPM1	P09493	p.Arg178His	rs397516375	missense variant	-	NC_000015.10:g.63060909G>A	-
TPM1	P09493	p.Arg178Cys	rs367606352	missense variant	-	NC_000015.10:g.63060908C>T	ESP,ExAC
TPM1	P09493	p.Arg178His	RCV000036341	missense variant	-	NC_000015.10:g.63060909G>A	ClinVar
TPM1	P09493	p.Glu180Val	RCV000024576	missense variant	-	NC_000015.10:g.63060915A>T	ClinVar
TPM1	P09493	p.Glu180Gly	RCV000013271	missense variant	Familial hypertrophic cardiomyopathy 3 (CMH3)	NC_000015.10:g.63060915A>G	ClinVar
TPM1	P09493	p.Glu180Gly	rs104894502	missense variant	Cardiomyopathy, familial hypertrophic 3 (CMH3)	NC_000015.10:g.63060915A>G	UniProt,dbSNP
TPM1	P09493	p.Glu180Gly	VAR_007602	missense variant	Cardiomyopathy, familial hypertrophic 3 (CMH3)	NC_000015.10:g.63060915A>G	UniProt
TPM1	P09493	p.Glu180Val	rs104894502	missense variant	Cardiomyopathy, familial hypertrophic 3 (CMH3)	NC_000015.10:g.63060915A>T	UniProt,dbSNP
TPM1	P09493	p.Glu180Val	VAR_029452	missense variant	Cardiomyopathy, familial hypertrophic 3 (CMH3)	NC_000015.10:g.63060915A>T	UniProt
TPM1	P09493	p.Glu180Gln	rs1555409132	missense variant	-	NC_000015.10:g.63060914G>C	-
TPM1	P09493	p.Glu180Gln	RCV000628948	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63060914G>C	ClinVar
TPM1	P09493	p.Glu180Gly	RCV000159367	missense variant	-	NC_000015.10:g.63060915A>G	ClinVar
TPM1	P09493	p.Arg182Trp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63060920C>T	NCI-TCGA
TPM1	P09493	p.Ala183Val	RCV000853436	missense variant	Bicuspid aortic valve	NC_000015.10:g.63060924C>T	ClinVar
TPM1	P09493	p.Ala183Val	rs397516376	missense variant	-	NC_000015.10:g.63060924C>T	TOPMed,gnomAD
TPM1	P09493	p.Glu184Ter	RCV000159403	frameshift	-	NC_000015.10:g.63060927del	ClinVar
TPM1	P09493	p.Leu185Arg	rs199476314	missense variant	-	NC_000015.10:g.63060930T>G	-
TPM1	P09493	p.Leu185Arg	RCV000024577	missense variant	-	NC_000015.10:g.63060930T>G	ClinVar
TPM1	P09493	p.Glu187Gln	rs727504264	missense variant	-	NC_000015.10:g.63060935G>C	-
TPM1	P09493	p.Glu187Val	rs786204411	missense variant	-	NC_000015.10:g.63060936A>T	-
TPM1	P09493	p.Glu187Gln	RCV000154247	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63060935G>C	ClinVar
TPM1	P09493	p.Glu187Val	RCV000253438	missense variant	-	NC_000015.10:g.63060936A>T	ClinVar
TPM1	P09493	p.Cys190Gly	rs730881139	missense variant	-	NC_000015.10:g.63061717T>G	TOPMed,gnomAD
TPM1	P09493	p.Cys190Arg	rs730881139	missense variant	-	NC_000015.10:g.63061717T>C	TOPMed,gnomAD
TPM1	P09493	p.Ala191Val	RCV000628953	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63061721_63061722delinsTT	ClinVar
TPM1	P09493	p.Ala191Val	rs772303740	missense variant	-	NC_000015.10:g.63061721C>T	ExAC,gnomAD
TPM1	P09493	p.Ala191Val	rs730881154	missense variant	-	NC_000015.10:g.63061721_63061722delinsTT	-
TPM1	P09493	p.Ala191Val	RCV000159404	missense variant	-	NC_000015.10:g.63061721_63061722delinsTT	ClinVar
TPM1	P09493	p.Glu192Lys	rs199476315	missense variant	-	NC_000015.10:g.63061723G>A	-
TPM1	P09493	p.Glu192Lys	rs199476315	missense variant	Left ventricular non-compaction 9 (LVNC9)	NC_000015.10:g.63061723G>A	UniProt,dbSNP
TPM1	P09493	p.Glu192Lys	VAR_070121	missense variant	Left ventricular non-compaction 9 (LVNC9)	NC_000015.10:g.63061723G>A	UniProt
TPM1	P09493	p.Glu192Lys	RCV000526765	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63061723G>A	ClinVar
TPM1	P09493	p.Glu195Lys	rs1555409508	missense variant	-	NC_000015.10:g.63061732G>A	-
TPM1	P09493	p.Glu195Lys	RCV000618099	missense variant	-	NC_000015.10:g.63061732G>A	ClinVar
TPM1	P09493	p.Glu196Ter	COSM4056092	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.63061735G>T	NCI-TCGA Cosmic
TPM1	P09493	p.Lys198Glu	rs730881140	missense variant	-	NC_000015.10:g.63061741A>G	-
TPM1	P09493	p.Lys198Glu	RCV000159373	missense variant	-	NC_000015.10:g.63061741A>G	ClinVar
TPM1	P09493	p.Lys198Arg	COSM700771	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63061742A>G	NCI-TCGA Cosmic
TPM1	P09493	p.Val200GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63061747_63061748insAGTCC	NCI-TCGA
TPM1	P09493	p.Val200GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63061746_63061747insGA	NCI-TCGA
TPM1	P09493	p.Thr201Met	RCV000159374	missense variant	-	NC_000015.10:g.63061751C>T	ClinVar
TPM1	P09493	p.Thr201Met	rs730881141	missense variant	-	NC_000015.10:g.63061751C>T	-
TPM1	P09493	p.Thr201Met	RCV000687999	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63061751C>T	ClinVar
TPM1	P09493	p.Asn203Lys	rs397516486	missense variant	-	NC_000015.10:g.63061758C>G	-
TPM1	P09493	p.Asn203Lys	RCV000036629	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63061758C>G	ClinVar
TPM1	P09493	p.Asn203Asp	rs1555409523	missense variant	-	NC_000015.10:g.63061756A>G	-
TPM1	P09493	p.Asn203Asp	RCV000629029	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63061756A>G	ClinVar
TPM1	P09493	p.Leu207Ter	RCV000144846	frameshift	Cardiomyopathy (CMYO)	NC_000015.10:g.63061769del	ClinVar
TPM1	P09493	p.Ala209Thr	rs730881159	missense variant	-	NC_000015.10:g.63061774G>A	-
TPM1	P09493	p.Ala209Thr	RCV000159411	missense variant	-	NC_000015.10:g.63061774G>A	ClinVar
TPM1	P09493	p.Gln210Arg	COSM4056095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63061778A>G	NCI-TCGA Cosmic
TPM1	P09493	p.Gln210Pro	rs777139450	missense variant	-	NC_000015.10:g.63061778A>C	ExAC,gnomAD
TPM1	P09493	p.Ala211Gly	rs397516487	missense variant	-	NC_000015.10:g.63061781C>G	-
TPM1	P09493	p.Ala211Gly	RCV000036630	missense variant	-	NC_000015.10:g.63061781C>G	ClinVar
TPM1	P09493	p.Glu212Val	rs769951937	missense variant	-	NC_000015.10:g.63061784A>T	ExAC,gnomAD
TPM1	P09493	p.Glu212Val	RCV000584812	missense variant	Familial hypertrophic cardiomyopathy 1 (CMH1)	NC_000015.10:g.63061784A>T	ClinVar
TPM1	P09493	p.Lys213Gln	RCV000786232	missense variant	-	NC_000015.10:g.63061786A>C	ClinVar
TPM1	P09493	p.Tyr214Cys	rs1382149754	missense variant	-	NC_000015.10:g.63062216A>G	gnomAD
TPM1	P09493	p.Ser215Leu	rs199476316	missense variant	-	NC_000015.10:g.63062219C>T	ExAC,gnomAD
TPM1	P09493	p.Ser215Leu	RCV000168063	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63062219C>T	ClinVar
TPM1	P09493	p.Gln216Glu	rs1265700466	missense variant	-	NC_000015.10:g.63062221C>G	TOPMed
TPM1	P09493	p.Asp219Asn	rs727503518	missense variant	-	NC_000015.10:g.63062230G>A	-
TPM1	P09493	p.Asp219Asn	RCV000152120	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63062230G>A	ClinVar
TPM1	P09493	p.Arg220Lys	rs763069444	missense variant	-	NC_000015.10:g.63062234G>A	ExAC,gnomAD
TPM1	P09493	p.Glu222Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63062239G>C	NCI-TCGA
TPM1	P09493	p.Glu224Gln	COSM3794291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63062245G>C	NCI-TCGA Cosmic
TPM1	P09493	p.Ile225Val	RCV000159379	missense variant	-	NC_000015.10:g.63062248A>G	ClinVar
TPM1	P09493	p.Ile225Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63062249T>A	NCI-TCGA
TPM1	P09493	p.Ile225Val	rs193922410	missense variant	-	NC_000015.10:g.63062248A>G	gnomAD
TPM1	P09493	p.Ile225Val	RCV000030569	missense variant	-	NC_000015.10:g.63062248A>G	ClinVar
TPM1	P09493	p.Lys226Arg	rs730881144	missense variant	-	NC_000015.10:g.63062252A>G	-
TPM1	P09493	p.Lys226Gln	RCV000036352	missense variant	-	NC_000015.10:g.63062251A>C	ClinVar
TPM1	P09493	p.Lys226Gln	rs397516383	missense variant	-	NC_000015.10:g.63062251A>C	-
TPM1	P09493	p.Lys226Arg	RCV000159380	missense variant	-	NC_000015.10:g.63062252A>G	ClinVar
TPM1	P09493	p.Val227Ile	rs1368991319	missense variant	-	NC_000015.10:g.63062254G>A	TOPMed
TPM1	P09493	p.Ser229Phe	rs1114167356	missense variant	-	NC_000015.10:g.63062261C>T	-
TPM1	P09493	p.Ser229Phe	RCV000491210	missense variant	Atrial septal defect 1 (ASD1)	NC_000015.10:g.63062261C>T	ClinVar
TPM1	P09493	p.Asp230Asn	RCV000695968	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63062263G>A	ClinVar
TPM1	P09493	p.Asp230Asn	RCV000036354	missense variant	Primary dilated cardiomyopathy (DCM)	NC_000015.10:g.63062263G>A	ClinVar
TPM1	P09493	p.Asp230Asn	rs199476317	missense variant	-	NC_000015.10:g.63062263G>A	-
TPM1	P09493	p.Asp230Asn	RCV000024580	missense variant	-	NC_000015.10:g.63062263G>A	ClinVar
TPM1	P09493	p.Asp230Asn	RCV000850515	missense variant	Familial hypertrophic cardiomyopathy 3 (CMH3)	NC_000015.10:g.63062263G>A	ClinVar
TPM1	P09493	p.Lys231Arg	rs397516385	missense variant	-	NC_000015.10:g.63062267A>G	-
TPM1	P09493	p.Lys231Arg	RCV000036355	missense variant	-	NC_000015.10:g.63062267A>G	ClinVar
TPM1	P09493	p.Glu234Asp	rs1307911763	missense variant	-	NC_000015.10:g.63062277G>C	gnomAD
TPM1	P09493	p.Glu236Asp	COSM3816492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63062581G>C	NCI-TCGA Cosmic
TPM1	P09493	p.Arg238Trp	RCV000159384	missense variant	Cardiomyopathy (CMYO)	NC_000015.10:g.63062585C>T	ClinVar
TPM1	P09493	p.Arg238Trp	rs397516386	missense variant	-	NC_000015.10:g.63062585C>T	-
TPM1	P09493	p.Ala239Thr	RCV000024591	missense variant	-	NC_000015.10:g.63062588G>A	ClinVar
TPM1	P09493	p.Ala239Thr	RCV000471524	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63062588G>A	ClinVar
TPM1	P09493	p.Ala239Thr	rs199476318	missense variant	-	NC_000015.10:g.63062588G>A	-
TPM1	P09493	p.Ala242Val	RCV000036357	missense variant	-	NC_000015.10:g.63062598C>T	ClinVar
TPM1	P09493	p.Ala242Val	rs397516387	missense variant	-	NC_000015.10:g.63062598C>T	gnomAD
TPM1	P09493	p.Arg244Lys	RCV000770516	missense variant	Cardiomyopathy (CMYO)	NC_000015.10:g.63062604G>A	ClinVar
TPM1	P09493	p.Ser245Leu	RCV000036359	missense variant	-	NC_000015.10:g.63062607C>T	ClinVar
TPM1	P09493	p.Ser245Leu	rs397516388	missense variant	-	NC_000015.10:g.63062607C>T	-
TPM1	P09493	p.Thr247Asn	rs760516389	missense variant	-	NC_000015.10:g.63062613C>A	ExAC
TPM1	P09493	p.Lys248Thr	RCV000159412	missense variant	-	NC_000015.10:g.63062616A>C	ClinVar
TPM1	P09493	p.Lys248Thr	rs730881160	missense variant	-	NC_000015.10:g.63062616A>C	-
TPM1	P09493	p.Lys248Glu	rs199476319	missense variant	Left ventricular non-compaction 9 (LVNC9)	NC_000015.10:g.63062615A>G	UniProt,dbSNP
TPM1	P09493	p.Lys248Glu	VAR_070122	missense variant	Left ventricular non-compaction 9 (LVNC9)	NC_000015.10:g.63062615A>G	UniProt
TPM1	P09493	p.Lys248Glu	RCV000054794	missense variant	Left ventricular noncompaction 9 (LVNC9)	NC_000015.10:g.63062615A>G	ClinVar
TPM1	P09493	p.Leu249Trp	rs786204412	missense variant	-	NC_000015.10:g.63062619T>G	-
TPM1	P09493	p.Leu249Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63062618T>A	NCI-TCGA
TPM1	P09493	p.Leu249Trp	RCV000208366	missense variant	Primary familial hypertrophic cardiomyopathy (HCM)	NC_000015.10:g.63062619T>G	ClinVar
TPM1	P09493	p.Lys251Thr	rs1288856499	missense variant	-	NC_000015.10:g.63062625A>C	TOPMed
TPM1	P09493	p.Ser252Ile	rs1375629623	missense variant	-	NC_000015.10:g.63062628G>T	TOPMed,gnomAD
TPM1	P09493	p.Asp254Glu	RCV000766951	missense variant	-	NC_000015.10:g.63062635T>G	ClinVar
TPM1	P09493	p.Asp254Glu	rs727504354	missense variant	-	NC_000015.10:g.63062635T>G	-
TPM1	P09493	p.Asp254Glu	rs727504354	missense variant	-	NC_000015.10:g.63062635T>A	-
TPM1	P09493	p.Asp254Glu	RCV000223807	missense variant	-	NC_000015.10:g.63062635T>A	ClinVar
TPM1	P09493	p.Asp254Glu	RCV000505777	missense variant	-	NC_000015.10:g.63062635T>G	ClinVar
TPM1	P09493	p.Glu259Lys	RCV000036360	missense variant	-	NC_000015.10:g.63064066G>A	ClinVar
TPM1	P09493	p.Glu259Gln	rs397516389	missense variant	-	NC_000015.10:g.63064066G>C	ExAC,gnomAD
TPM1	P09493	p.Glu259Gln	RCV000159351	missense variant	-	NC_000015.10:g.63064066G>C	ClinVar
TPM1	P09493	p.Glu259Lys	rs397516389	missense variant	-	NC_000015.10:g.63064066G>A	ExAC,gnomAD
TPM1	P09493	p.Ala262Ser	rs758506771	missense variant	-	NC_000015.10:g.63064075G>T	ExAC,TOPMed,gnomAD
TPM1	P09493	p.Ala262Thr	RCV000532880	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63064075G>A	ClinVar
TPM1	P09493	p.Ala262Thr	rs758506771	missense variant	-	NC_000015.10:g.63064075G>A	ExAC,TOPMed,gnomAD
TPM1	P09493	p.Gln263Glu	RCV000768534	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63064078C>G	ClinVar
TPM1	P09493	p.Gln263Glu	rs730881147	missense variant	-	NC_000015.10:g.63064078C>G	-
TPM1	P09493	p.Gln263Glu	RCV000159386	missense variant	-	NC_000015.10:g.63064078C>G	ClinVar
TPM1	P09493	p.Lys264Glu	rs397516390	missense variant	-	NC_000015.10:g.63064081A>G	-
TPM1	P09493	p.Lys264Glu	RCV000036361	missense variant	-	NC_000015.10:g.63064081A>G	ClinVar
TPM1	P09493	p.Lys264Glu	RCV000822102	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63064081A>G	ClinVar
TPM1	P09493	p.Lys266Arg	rs371934474	missense variant	-	NC_000015.10:g.63064088A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TPM1	P09493	p.Lys266Arg	RCV000154863	missense variant	-	NC_000015.10:g.63064088A>G	ClinVar
TPM1	P09493	p.Lys266Arg	RCV000475992	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63064088A>G	ClinVar
TPM1	P09493	p.Lys266Arg	RCV000624321	missense variant	Left ventricular noncompaction	NC_000015.10:g.63064088A>G	ClinVar
TPM1	P09493	p.Tyr267Cys	rs1235668647	missense variant	-	NC_000015.10:g.63064091A>G	TOPMed
TPM1	P09493	p.Lys268Glu	RCV000612828	missense variant	-	NC_000015.10:g.63064093A>G	ClinVar
TPM1	P09493	p.Lys268Glu	rs1555410433	missense variant	-	NC_000015.10:g.63064093A>G	-
TPM1	P09493	p.Lys268Arg	rs1395706088	missense variant	-	NC_000015.10:g.63064094A>G	gnomAD
TPM1	P09493	p.Ala269Gly	rs1342749492	missense variant	-	NC_000015.10:g.63064097C>G	gnomAD
TPM1	P09493	p.Ile270Val	rs1555410445	missense variant	-	NC_000015.10:g.63064099A>G	-
TPM1	P09493	p.Ile270Val	RCV000538492	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63064099A>G	ClinVar
TPM1	P09493	p.Ser271Asn	rs1278119163	missense variant	-	NC_000015.10:g.63064103G>A	gnomAD
TPM1	P09493	p.Glu272Lys	rs755226348	missense variant	-	NC_000015.10:g.63064105G>A	ExAC,TOPMed,gnomAD
TPM1	P09493	p.Glu272Gly	rs727503519	missense variant	-	NC_000015.10:g.63064106A>G	-
TPM1	P09493	p.Glu272Ala	RCV000152123	missense variant	-	NC_000015.10:g.63064106A>C	ClinVar
TPM1	P09493	p.Glu272Ala	rs727503519	missense variant	-	NC_000015.10:g.63064106A>C	-
TPM1	P09493	p.Glu272Gly	RCV000505744	missense variant	-	NC_000015.10:g.63064106A>G	ClinVar
TPM1	P09493	p.Ala277Gly	rs199476320	missense variant	-	NC_000015.10:g.63064121C>G	TOPMed
TPM1	P09493	p.Ala277Gly	RCV000036365	missense variant	-	NC_000015.10:g.63064121C>G	ClinVar
TPM1	P09493	p.Ala277Val	RCV000024592	missense variant	-	NC_000015.10:g.63064121C>T	ClinVar
TPM1	P09493	p.Ala277Thr	rs149659674	missense variant	-	NC_000015.10:g.63064120G>A	ESP,ExAC,TOPMed,gnomAD
TPM1	P09493	p.Ala277Val	rs199476320	missense variant	-	NC_000015.10:g.63064121C>T	TOPMed
TPM1	P09493	p.Ala277Gly	RCV000766952	missense variant	-	NC_000015.10:g.63064121C>G	ClinVar
TPM1	P09493	p.Ala277Thr	RCV000036362	missense variant	-	NC_000015.10:g.63064120G>A	ClinVar
TPM1	P09493	p.Leu278Val	rs730881161	missense variant	-	NC_000015.10:g.63064123C>G	gnomAD
TPM1	P09493	p.Leu278Phe	rs730881161	missense variant	-	NC_000015.10:g.63064123C>T	gnomAD
TPM1	P09493	p.Asn279His	rs397516392	missense variant	-	NC_000015.10:g.63064126A>C	-
TPM1	P09493	p.Asn279His	RCV000036366	missense variant	-	NC_000015.10:g.63064126A>C	ClinVar
TPM1	P09493	p.Asn279His	RCV000788149	missense variant	-	NC_000015.10:g.63064126A>C	ClinVar
TPM1	P09493	p.Asp280Asn	rs777635889	missense variant	-	NC_000015.10:g.63064129G>A	ExAC,gnomAD
TPM1	P09493	p.Met281Val	RCV000036368	missense variant	-	NC_000015.10:g.63064132A>G	ClinVar
TPM1	P09493	p.Met281Val	RCV000766955	missense variant	-	NC_000015.10:g.63064132A>G	ClinVar
TPM1	P09493	p.Met281Val	RCV000553548	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63064132A>G	ClinVar
TPM1	P09493	p.Met281Thr	rs199476321	missense variant	-	NC_000015.10:g.63064133T>C	TOPMed,gnomAD
TPM1	P09493	p.Met281Val	rs397516394	missense variant	-	NC_000015.10:g.63064132A>G	ExAC,gnomAD
TPM1	P09493	p.Met281Thr	RCV000154219	missense variant	-	NC_000015.10:g.63064133T>C	ClinVar
TPM1	P09493	p.Thr282Ser	rs397516395	missense variant	-	NC_000015.10:g.63064136C>G	1000Genomes,ExAC,TOPMed,gnomAD
TPM1	P09493	p.Thr282Ser	RCV000310785	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63064136C>G	ClinVar
TPM1	P09493	p.Ile284Thr	rs745520822	missense variant	-	NC_000015.10:g.63064142T>C	ExAC,gnomAD
TPM1	P09493	p.Ile284Val	RCV000699606	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63064141A>G	ClinVar
TPM1	P09493	p.Ile284Thr	RCV000498754	missense variant	Hypertrophic cardiomyopathy	NC_000015.10:g.63064142T>C	ClinVar
TPM1	P09493	p.Ile284Val	rs199476322	missense variant	-	NC_000015.10:g.63064141A>G	-
TPM1	P09493	p.Ile284Met	rs759481997	missense variant	-	NC_000015.10:g.63065896A>G	ExAC,gnomAD
TPM1	P09493	p.Ile284Val	RCV000152124	missense variant	-	NC_000015.10:g.63064141A>G	ClinVar
TPM1	P09493	p.Ile284Val	RCV000024594	missense variant	-	NC_000015.10:g.63064141A>G	ClinVar
INHBB	P09529	p.Gly3Arg	rs960624347	missense variant	-	NC_000002.12:g.120346195G>A	TOPMed,gnomAD
INHBB	P09529	p.Gly3Trp	rs960624347	missense variant	-	NC_000002.12:g.120346195G>T	TOPMed,gnomAD
INHBB	P09529	p.Gly3Arg	rs960624347	missense variant	-	NC_000002.12:g.120346195G>C	TOPMed,gnomAD
INHBB	P09529	p.Gly6Ala	rs1450415604	missense variant	-	NC_000002.12:g.120346205G>C	TOPMed
INHBB	P09529	p.Gly6Arg	rs1198729189	missense variant	-	NC_000002.12:g.120346204G>C	TOPMed
INHBB	P09529	p.Arg7Pro	rs1181401457	missense variant	-	NC_000002.12:g.120346208G>C	TOPMed,gnomAD
INHBB	P09529	p.Arg7Trp	rs1292041125	missense variant	-	NC_000002.12:g.120346207C>T	TOPMed
INHBB	P09529	p.Arg7Leu	rs1181401457	missense variant	-	NC_000002.12:g.120346208G>T	TOPMed,gnomAD
INHBB	P09529	p.Ala8Thr	rs1409949193	missense variant	-	NC_000002.12:g.120346210G>A	TOPMed,gnomAD
INHBB	P09529	p.Ala11Thr	rs1272734266	missense variant	-	NC_000002.12:g.120346219G>A	TOPMed
INHBB	P09529	p.Ala12Ser	rs1473807788	missense variant	-	NC_000002.12:g.120346222G>T	TOPMed,gnomAD
INHBB	P09529	p.Ala12Pro	rs1473807788	missense variant	-	NC_000002.12:g.120346222G>C	TOPMed,gnomAD
INHBB	P09529	p.Ala12Thr	rs1473807788	missense variant	-	NC_000002.12:g.120346222G>A	TOPMed,gnomAD
INHBB	P09529	p.Ala12Val	rs1434153838	missense variant	-	NC_000002.12:g.120346223C>T	TOPMed
INHBB	P09529	p.Ala19Asp	rs968275315	missense variant	-	NC_000002.12:g.120346244C>A	TOPMed
INHBB	P09529	p.Ala19Thr	rs1303161649	missense variant	-	NC_000002.12:g.120346243G>A	TOPMed
INHBB	P09529	p.Trp21Cys	rs1368231013	missense variant	-	NC_000002.12:g.120346251G>T	TOPMed
INHBB	P09529	p.Leu22Arg	rs1429247332	missense variant	-	NC_000002.12:g.120346253T>G	gnomAD
INHBB	P09529	p.Gly23Arg	rs1410212471	missense variant	-	NC_000002.12:g.120346255G>A	TOPMed
INHBB	P09529	p.Pro24Ser	rs1468674990	missense variant	-	NC_000002.12:g.120346258C>T	TOPMed,gnomAD
INHBB	P09529	p.Glu25Ala	rs1305058762	missense variant	-	NC_000002.12:g.120346262A>C	gnomAD
INHBB	P09529	p.Gly28Ala	rs1271674533	missense variant	-	NC_000002.12:g.120346271G>C	TOPMed
INHBB	P09529	p.Pro34Leu	rs1275457190	missense variant	-	NC_000002.12:g.120346289C>T	gnomAD
INHBB	P09529	p.Thr35Pro	rs1200849451	missense variant	-	NC_000002.12:g.120346291A>C	TOPMed
INHBB	P09529	p.Ala37Val	rs1403758021	missense variant	-	NC_000002.12:g.120346298C>T	gnomAD
INHBB	P09529	p.Pro40Ser	rs1308329060	missense variant	-	NC_000002.12:g.120346306C>T	TOPMed
INHBB	P09529	p.Pro42Ser	rs923684531	missense variant	-	NC_000002.12:g.120346312C>T	TOPMed,gnomAD
INHBB	P09529	p.Pro42Ala	rs923684531	missense variant	-	NC_000002.12:g.120346312C>G	TOPMed,gnomAD
INHBB	P09529	p.Pro44Leu	rs776937883	missense variant	-	NC_000002.12:g.120346319C>T	ExAC,gnomAD
INHBB	P09529	p.Pro45Leu	rs1205688766	missense variant	-	NC_000002.12:g.120346322C>T	gnomAD
INHBB	P09529	p.Gly46Arg	rs1250803329	missense variant	-	NC_000002.12:g.120346324G>A	gnomAD
INHBB	P09529	p.Ser47Ala	rs11900747	missense variant	-	NC_000002.12:g.120346327T>G	1000Genomes,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Pro48Gln	rs922912209	missense variant	-	NC_000002.12:g.120346331C>A	TOPMed,gnomAD
INHBB	P09529	p.Pro48Leu	rs922912209	missense variant	-	NC_000002.12:g.120346331C>T	TOPMed,gnomAD
INHBB	P09529	p.Pro48Arg	rs922912209	missense variant	-	NC_000002.12:g.120346331C>G	TOPMed,gnomAD
INHBB	P09529	p.Gly50Ser	rs1477431621	missense variant	-	NC_000002.12:g.120346336G>A	gnomAD
INHBB	P09529	p.Ser51Trp	rs1172288935	missense variant	-	NC_000002.12:g.120346340C>G	gnomAD
INHBB	P09529	p.Gln52Pro	rs1392629369	missense variant	-	NC_000002.12:g.120346343A>C	gnomAD
INHBB	P09529	p.Asp53Asn	rs765759011	missense variant	-	NC_000002.12:g.120346345G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Thr54Ser	rs1307740331	missense variant	-	NC_000002.12:g.120346349C>G	gnomAD
INHBB	P09529	p.Gly59Ser	rs1394800610	missense variant	-	NC_000002.12:g.120346363G>A	gnomAD
INHBB	P09529	p.Gly60Ser	rs1324496256	missense variant	-	NC_000002.12:g.120346366G>A	TOPMed,gnomAD
INHBB	P09529	p.Arg62Gly	rs754649687	missense variant	-	NC_000002.12:g.120346372C>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg62Trp	rs754649687	missense variant	-	NC_000002.12:g.120346372C>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg63Trp	rs1301150662	missense variant	-	NC_000002.12:g.120346375C>T	gnomAD
INHBB	P09529	p.Glu65Gln	rs781205948	missense variant	-	NC_000002.12:g.120346381G>C	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Gly68Cys	rs757403274	missense variant	-	NC_000002.12:g.120346390G>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Gly68Arg	rs757403274	missense variant	-	NC_000002.12:g.120346390G>C	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg69Pro	rs1450521842	missense variant	-	NC_000002.12:g.120346394G>C	gnomAD
INHBB	P09529	p.Val70Glu	rs1391489233	missense variant	-	NC_000002.12:g.120346397T>A	gnomAD
INHBB	P09529	p.Asp71Val	rs778928618	missense variant	-	NC_000002.12:g.120346400A>T	ExAC,gnomAD
INHBB	P09529	p.Gly72Cys	rs1249970261	missense variant	-	NC_000002.12:g.120346402G>T	TOPMed,gnomAD
INHBB	P09529	p.Gly72Arg	rs1249970261	missense variant	-	NC_000002.12:g.120346402G>C	TOPMed,gnomAD
INHBB	P09529	p.Asp73Asn	rs1371662893	missense variant	-	NC_000002.12:g.120346405G>A	gnomAD
INHBB	P09529	p.Asp73Val	rs1327012748	missense variant	-	NC_000002.12:g.120346406A>T	TOPMed
INHBB	P09529	p.Arg80Gln	rs1390366565	missense variant	-	NC_000002.12:g.120346427G>A	TOPMed,gnomAD
INHBB	P09529	p.Arg80Trp	rs1164029745	missense variant	-	NC_000002.12:g.120346426C>T	TOPMed,gnomAD
INHBB	P09529	p.Arg80Leu	rs1390366565	missense variant	-	NC_000002.12:g.120346427G>T	TOPMed,gnomAD
INHBB	P09529	p.Arg80Gly	rs1164029745	missense variant	-	NC_000002.12:g.120346426C>G	TOPMed,gnomAD
INHBB	P09529	p.Ile82Met	rs1322566739	missense variant	-	NC_000002.12:g.120346434C>G	TOPMed,gnomAD
INHBB	P09529	p.Arg85His	rs1045851878	missense variant	-	NC_000002.12:g.120346442G>A	gnomAD
INHBB	P09529	p.Arg85Leu	rs1045851878	missense variant	-	NC_000002.12:g.120346442G>T	gnomAD
INHBB	P09529	p.Gln87Arg	rs747402186	missense variant	-	NC_000002.12:g.120346448A>G	ExAC,gnomAD
INHBB	P09529	p.Met88Ile	rs768864104	missense variant	-	NC_000002.12:g.120346452G>T	ExAC,gnomAD
INHBB	P09529	p.Gly90Asp	rs777218845	missense variant	-	NC_000002.12:g.120346457G>A	ExAC,gnomAD
INHBB	P09529	p.Gly90Ser	rs1337832826	missense variant	-	NC_000002.12:g.120346456G>A	TOPMed
INHBB	P09529	p.Asn93Ser	rs1268651265	missense variant	-	NC_000002.12:g.120346466A>G	gnomAD
INHBB	P09529	p.Ile94Val	rs1431762618	missense variant	-	NC_000002.12:g.120346468A>G	gnomAD
INHBB	P09529	p.His96Arg	rs1035714724	missense variant	-	NC_000002.12:g.120346475A>G	TOPMed,gnomAD
INHBB	P09529	p.His96Tyr	rs762205967	missense variant	-	NC_000002.12:g.120346474C>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Ala97Pro	rs562575760	missense variant	-	NC_000002.12:g.120346477G>C	1000Genomes
INHBB	P09529	p.Lys100Met	rs770515821	missense variant	-	NC_000002.12:g.120346487A>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Lys100Thr	rs770515821	missense variant	-	NC_000002.12:g.120346487A>C	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Met103Ile	rs1463427901	missense variant	-	NC_000002.12:g.120346497G>C	TOPMed
INHBB	P09529	p.Thr105Met	rs529875491	missense variant	-	NC_000002.12:g.120346502C>T	1000Genomes,TOPMed,gnomAD
INHBB	P09529	p.Arg108His	rs1288201915	missense variant	-	NC_000002.12:g.120346511G>A	gnomAD
INHBB	P09529	p.Ala112Glu	rs998841719	missense variant	-	NC_000002.12:g.120346523C>A	gnomAD
INHBB	P09529	p.Ala112Thr	COSM4084536	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120346522G>A	NCI-TCGA Cosmic
INHBB	P09529	p.Gly113Asp	rs763771792	missense variant	-	NC_000002.12:g.120346526G>A	ExAC,gnomAD
INHBB	P09529	p.Arg116Cys	rs1214530105	missense variant	-	NC_000002.12:g.120346534C>T	gnomAD
INHBB	P09529	p.Glu117Asp	rs757133834	missense variant	-	NC_000002.12:g.120346539G>C	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg120Gly	rs893115187	missense variant	-	NC_000002.12:g.120346546C>G	TOPMed,gnomAD
INHBB	P09529	p.Val121Met	rs1291124907	missense variant	-	NC_000002.12:g.120346549G>A	TOPMed
INHBB	P09529	p.His125Tyr	rs923742193	missense variant	-	NC_000002.12:g.120346561C>T	TOPMed,gnomAD
INHBB	P09529	p.His125Asp	rs923742193	missense variant	-	NC_000002.12:g.120346561C>G	TOPMed,gnomAD
INHBB	P09529	p.Leu126Phe	rs780288626	missense variant	-	NC_000002.12:g.120346564C>T	ExAC,gnomAD
INHBB	P09529	p.Asp127Gly	rs747151266	missense variant	-	NC_000002.12:g.120346568A>G	ExAC,gnomAD
INHBB	P09529	p.Asp127Glu	rs769114695	missense variant	-	NC_000002.12:g.120346569C>G	ExAC,gnomAD
INHBB	P09529	p.Gly128Ala	rs748697458	missense variant	-	NC_000002.12:g.120346571G>C	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Ala130Gly	rs1386089217	missense variant	-	NC_000002.12:g.120346577C>G	TOPMed
INHBB	P09529	p.Pro132Arg	rs201489869	missense variant	-	NC_000002.12:g.120346583C>G	1000Genomes,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Gly133Val	rs1374594037	missense variant	-	NC_000002.12:g.120346586G>T	gnomAD
INHBB	P09529	p.Gly136Ser	rs1350803575	missense variant	-	NC_000002.12:g.120346594G>A	gnomAD
INHBB	P09529	p.Gln137His	rs1263629524	missense variant	-	NC_000002.12:g.120346599G>C	TOPMed
INHBB	P09529	p.Gln137Arg	rs931631684	missense variant	-	NC_000002.12:g.120346598A>G	TOPMed
INHBB	P09529	p.Glu138Val	rs1222861466	missense variant	-	NC_000002.12:g.120346601A>T	gnomAD
INHBB	P09529	p.Arg139Leu	rs986438315	missense variant	-	NC_000002.12:g.120346604G>T	TOPMed
INHBB	P09529	p.Ser141Pro	COSM4084538	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120346609T>C	NCI-TCGA Cosmic
INHBB	P09529	p.Glu148Asp	rs1252992323	missense variant	-	NC_000002.12:g.120346632G>C	TOPMed,gnomAD
INHBB	P09529	p.Thr149Ala	rs1263108599	missense variant	-	NC_000002.12:g.120346633A>G	TOPMed
INHBB	P09529	p.Thr149Ile	rs775328165	missense variant	-	NC_000002.12:g.120346634C>T	ExAC,gnomAD
INHBB	P09529	p.Gly151Asp	rs1292293436	missense variant	-	NC_000002.12:g.120349102G>A	gnomAD
INHBB	P09529	p.Leu152Phe	rs767641003	missense variant	-	NC_000002.12:g.120349104C>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Ala153Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349108C>T	NCI-TCGA
INHBB	P09529	p.Ala153Ser	rs756593615	missense variant	-	NC_000002.12:g.120349107G>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Ala153Thr	rs756593615	missense variant	-	NC_000002.12:g.120349107G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Ser154Ala	rs1202336188	missense variant	-	NC_000002.12:g.120349110T>G	TOPMed
INHBB	P09529	p.Arg156Gln	rs779417932	missense variant	-	NC_000002.12:g.120349117G>A	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Arg156Trp	rs757821876	missense variant	-	NC_000002.12:g.120349116C>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg156Gly	rs757821876	missense variant	-	NC_000002.12:g.120349116C>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg156Gln	rs779417932	missense variant	-	NC_000002.12:g.120349117G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Val157Gly	rs1295034640	missense variant	-	NC_000002.12:g.120349120T>G	gnomAD
INHBB	P09529	p.Arg158Cys	rs746505306	missense variant	-	NC_000002.12:g.120349122C>T	ExAC,gnomAD
INHBB	P09529	p.Arg158His	rs768170550	missense variant	-	NC_000002.12:g.120349123G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg158His	rs768170550	missense variant	-	NC_000002.12:g.120349123G>A	NCI-TCGA Cosmic
INHBB	P09529	p.Arg158Leu	rs768170550	missense variant	-	NC_000002.12:g.120349123G>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg158Cys	rs746505306	missense variant	-	NC_000002.12:g.120349122C>T	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Phe161Tyr	rs1434306336	missense variant	-	NC_000002.12:g.120349132T>A	TOPMed,gnomAD
INHBB	P09529	p.Phe162Ser	rs527898067	missense variant	-	NC_000002.12:g.120349135T>C	1000Genomes,ExAC,gnomAD
INHBB	P09529	p.Ile163Val	rs1339414880	missense variant	-	NC_000002.12:g.120349137A>G	TOPMed
INHBB	P09529	p.Asn165Ser	rs762936786	missense variant	-	NC_000002.12:g.120349144A>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Glu166Lys	rs774282504	missense variant	-	NC_000002.12:g.120349146G>A	ExAC,gnomAD
INHBB	P09529	p.Gly167Asp	rs767587591	missense variant	-	NC_000002.12:g.120349150G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Gly167Ser	rs759567914	missense variant	-	NC_000002.12:g.120349149G>A	ExAC,gnomAD
INHBB	P09529	p.Asn170Asp	rs756397739	missense variant	-	NC_000002.12:g.120349158A>G	ExAC,gnomAD
INHBB	P09529	p.Leu171Pro	rs967062614	missense variant	-	NC_000002.12:g.120349162T>C	TOPMed
INHBB	P09529	p.Phe172Leu	rs764607634	missense variant	-	NC_000002.12:g.120349166T>A	ExAC,gnomAD
INHBB	P09529	p.Val173Ala	rs1189700671	missense variant	-	NC_000002.12:g.120349168T>C	TOPMed
INHBB	P09529	p.Val174Ile	rs538498324	missense variant	-	NC_000002.12:g.120349170G>A	1000Genomes,TOPMed
INHBB	P09529	p.Trp179Ser	rs754265018	missense variant	-	NC_000002.12:g.120349186G>C	ExAC,gnomAD
INHBB	P09529	p.Leu184Phe	rs757627693	missense variant	-	NC_000002.12:g.120349200C>T	ExAC,gnomAD
INHBB	P09529	p.Leu185Arg	rs779319802	missense variant	-	NC_000002.12:g.120349204T>G	ExAC,gnomAD
INHBB	P09529	p.Val188Ile	rs750891174	missense variant	-	NC_000002.12:g.120349212G>A	ExAC,gnomAD
INHBB	P09529	p.Gly192AlaPheSerTerUnkUnk	COSM1005983	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.120349223G>-	NCI-TCGA Cosmic
INHBB	P09529	p.Ser193Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349228G>A	NCI-TCGA
INHBB	P09529	p.Arg194Trp	rs554007199	missense variant	-	NC_000002.12:g.120349230C>T	ExAC,gnomAD
INHBB	P09529	p.Arg194Gln	rs769423198	missense variant	-	NC_000002.12:g.120349231G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg194Gln	rs769423198	missense variant	-	NC_000002.12:g.120349231G>A	NCI-TCGA
INHBB	P09529	p.Arg194Trp	rs554007199	missense variant	-	NC_000002.12:g.120349230C>T	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Arg195Trp	rs777351329	missense variant	-	NC_000002.12:g.120349233C>T	NCI-TCGA
INHBB	P09529	p.Arg195Gln	rs749091093	missense variant	-	NC_000002.12:g.120349234G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg195Trp	rs777351329	missense variant	-	NC_000002.12:g.120349233C>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Lys196Met	rs1209103585	missense variant	-	NC_000002.12:g.120349237A>T	TOPMed
INHBB	P09529	p.Arg198Gly	rs770722399	missense variant	-	NC_000002.12:g.120349242C>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg198Gln	rs201609499	missense variant	-	NC_000002.12:g.120349243G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg198Trp	rs770722399	missense variant	-	NC_000002.12:g.120349242C>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg198Trp	rs770722399	missense variant	-	NC_000002.12:g.120349242C>T	NCI-TCGA
INHBB	P09529	p.Lys200Glu	rs759483459	missense variant	-	NC_000002.12:g.120349248A>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Val201Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349251G>A	NCI-TCGA
INHBB	P09529	p.Val201Leu	rs1229259197	missense variant	-	NC_000002.12:g.120349251G>C	TOPMed,gnomAD
INHBB	P09529	p.Tyr202Cys	rs144330762	missense variant	-	NC_000002.12:g.120349255A>G	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Gln206Pro	rs975677798	missense variant	-	NC_000002.12:g.120349267A>C	TOPMed
INHBB	P09529	p.His208Gln	rs4328642	missense variant	-	NC_000002.12:g.120349274C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.His208Arg	rs1207428819	missense variant	-	NC_000002.12:g.120349273A>G	gnomAD
INHBB	P09529	p.Gly209Ser	rs142763860	missense variant	-	NC_000002.12:g.120349275G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Asp210Asn	rs1209979245	missense variant	-	NC_000002.12:g.120349278G>A	TOPMed,gnomAD
INHBB	P09529	p.Trp212Gly	rs1255146313	missense variant	-	NC_000002.12:g.120349284T>G	gnomAD
INHBB	P09529	p.Asn213Lys	rs370251196	missense variant	-	NC_000002.12:g.120349289C>G	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Met214Val	rs750934647	missense variant	-	NC_000002.12:g.120349290A>G	ExAC,gnomAD
INHBB	P09529	p.Met214Ile	COSM3565878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349292G>A	NCI-TCGA Cosmic
INHBB	P09529	p.Arg218Ser	rs1174813485	missense variant	-	NC_000002.12:g.120349304G>C	gnomAD
INHBB	P09529	p.Arg218Lys	rs1047221496	missense variant	-	NC_000002.12:g.120349303G>A	TOPMed
INHBB	P09529	p.Leu221Arg	rs1434647363	missense variant	-	NC_000002.12:g.120349312T>G	gnomAD
INHBB	P09529	p.Lys222Arg	rs758941360	missense variant	-	NC_000002.12:g.120349315A>G	ExAC,gnomAD
INHBB	P09529	p.Arg223His	rs755558554	missense variant	-	NC_000002.12:g.120349318G>A	ExAC,gnomAD
INHBB	P09529	p.Arg223Cys	rs780625208	missense variant	-	NC_000002.12:g.120349317C>T	ExAC,gnomAD
INHBB	P09529	p.Arg223Leu	rs755558554	missense variant	-	NC_000002.12:g.120349318G>T	ExAC,gnomAD
INHBB	P09529	p.Arg223Ser	rs780625208	missense variant	-	NC_000002.12:g.120349317C>A	ExAC,gnomAD
INHBB	P09529	p.Arg223Cys	rs780625208	missense variant	-	NC_000002.12:g.120349317C>T	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Ser224Gly	rs965669603	missense variant	-	NC_000002.12:g.120349320A>G	TOPMed
INHBB	P09529	p.Gly225Ser	rs1269321605	missense variant	-	NC_000002.12:g.120349323G>A	TOPMed
INHBB	P09529	p.His227Arg	rs748893887	missense variant	-	NC_000002.12:g.120349330A>G	ExAC,gnomAD
INHBB	P09529	p.Thr228Ser	COSM3565880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349332A>T	NCI-TCGA Cosmic
INHBB	P09529	p.Pro230Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349338C>T	NCI-TCGA
INHBB	P09529	p.Thr232Arg	rs770683310	missense variant	-	NC_000002.12:g.120349345C>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Thr232Met	rs770683310	missense variant	-	NC_000002.12:g.120349345C>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Thr232Met	rs770683310	missense variant	-	NC_000002.12:g.120349345C>T	NCI-TCGA
INHBB	P09529	p.Ala234Val	rs1348423852	missense variant	-	NC_000002.12:g.120349351C>T	gnomAD
INHBB	P09529	p.Gln236Arg	rs760867489	missense variant	-	NC_000002.12:g.120349357A>G	ExAC,gnomAD
INHBB	P09529	p.Leu238Ser	rs768807268	missense variant	-	NC_000002.12:g.120349363T>C	ExAC,gnomAD
INHBB	P09529	p.Leu238Val	COSM716025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349362T>G	NCI-TCGA Cosmic
INHBB	P09529	p.Phe239Ser	rs1249448875	missense variant	-	NC_000002.12:g.120349366T>C	gnomAD
INHBB	P09529	p.Glu240Asp	rs202216864	missense variant	-	NC_000002.12:g.120349370G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg241Gln	rs374594988	missense variant	-	NC_000002.12:g.120349372G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg241Trp	rs762062674	missense variant	-	NC_000002.12:g.120349371C>T	ExAC,gnomAD
INHBB	P09529	p.Glu243Asp	rs763171160	missense variant	-	NC_000002.12:g.120349379G>C	ExAC,gnomAD
INHBB	P09529	p.Arg244Gln	rs147613754	missense variant	-	NC_000002.12:g.120349381G>A	ESP,gnomAD
INHBB	P09529	p.Arg244Trp	rs1302307316	missense variant	-	NC_000002.12:g.120349380C>T	gnomAD
INHBB	P09529	p.Arg244Gln	rs147613754	missense variant	-	NC_000002.12:g.120349381G>A	NCI-TCGA
INHBB	P09529	p.Arg245Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.120349383C>T	NCI-TCGA
INHBB	P09529	p.Arg245Gln	rs766879328	missense variant	-	NC_000002.12:g.120349384G>A	ExAC,gnomAD
INHBB	P09529	p.Asn247Asp	rs755646306	missense variant	-	NC_000002.12:g.120349389A>G	ExAC,gnomAD
INHBB	P09529	p.Asn247Ser	COSM4084540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349390A>G	NCI-TCGA Cosmic
INHBB	P09529	p.Asp249Glu	rs143435725	missense variant	-	NC_000002.12:g.120349397C>A	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Val250Leu	rs745676362	missense variant	-	NC_000002.12:g.120349398G>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Val250Met	rs745676362	missense variant	-	NC_000002.12:g.120349398G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Gln251Lys	rs767436546	missense variant	-	NC_000002.12:g.120349401C>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Gln251His	rs1301215368	missense variant	-	NC_000002.12:g.120349403G>C	gnomAD
INHBB	P09529	p.Asp253Gly	rs746918678	missense variant	-	NC_000002.12:g.120349408A>G	ExAC,gnomAD
INHBB	P09529	p.Ser254Asn	rs539269278	missense variant	-	NC_000002.12:g.120349411G>A	1000Genomes,ExAC,gnomAD
INHBB	P09529	p.Glu257Lys	rs148176831	missense variant	-	NC_000002.12:g.120349419G>A	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Glu257Lys	rs148176831	missense variant	-	NC_000002.12:g.120349419G>A	NCI-TCGA
INHBB	P09529	p.Leu258Arg	rs1194122682	missense variant	-	NC_000002.12:g.120349423T>G	TOPMed
INHBB	P09529	p.Val260Met	rs770068466	missense variant	-	NC_000002.12:g.120349428G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Val260Met	rs770068466	missense variant	-	NC_000002.12:g.120349428G>A	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Val261Leu	rs142105758	missense variant	-	NC_000002.12:g.120349431G>T	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Pro262Ser	rs1192284361	missense variant	-	NC_000002.12:g.120349434C>T	gnomAD
INHBB	P09529	p.Pro262Leu	rs1316704448	missense variant	-	NC_000002.12:g.120349435C>T	TOPMed,gnomAD
INHBB	P09529	p.Pro262Ser	rs1192284361	missense variant	-	NC_000002.12:g.120349434C>T	NCI-TCGA
INHBB	P09529	p.Val263Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349437G>T	NCI-TCGA
INHBB	P09529	p.Phe264Leu	rs774890593	missense variant	-	NC_000002.12:g.120349442C>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Phe264Ser	rs1343231594	missense variant	-	NC_000002.12:g.120349441T>C	TOPMed
INHBB	P09529	p.Val265Gly	rs760009603	missense variant	-	NC_000002.12:g.120349444T>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Val265Ala	rs760009603	missense variant	-	NC_000002.12:g.120349444T>C	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Pro267Thr	rs753397591	missense variant	-	NC_000002.12:g.120349449C>A	ExAC
INHBB	P09529	p.Gly268Ser	rs1444408843	missense variant	-	NC_000002.12:g.120349452G>A	TOPMed
INHBB	P09529	p.Gly268Asp	rs752997062	missense variant	-	NC_000002.12:g.120349453G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Glu269Gln	rs1459992323	missense variant	-	NC_000002.12:g.120349455G>C	gnomAD
INHBB	P09529	p.Glu270Lys	rs904089802	missense variant	-	NC_000002.12:g.120349458G>A	NCI-TCGA Cosmic
INHBB	P09529	p.Glu270Lys	rs904089802	missense variant	-	NC_000002.12:g.120349458G>A	gnomAD
INHBB	P09529	p.Ser271Leu	rs1001095566	missense variant	-	NC_000002.12:g.120349462C>T	TOPMed
INHBB	P09529	p.Ser271Leu	rs1001095566	missense variant	-	NC_000002.12:g.120349462C>T	NCI-TCGA Cosmic
INHBB	P09529	p.His272Gln	rs747008552	missense variant	-	NC_000002.12:g.120349466C>G	ExAC,gnomAD
INHBB	P09529	p.His272Tyr	rs200288747	missense variant	-	NC_000002.12:g.120349464C>T	1000Genomes,ExAC,gnomAD
INHBB	P09529	p.Arg273Gln	rs781217919	missense variant	-	NC_000002.12:g.120349468G>A	ExAC,gnomAD
INHBB	P09529	p.Arg273Gln	rs781217919	missense variant	-	NC_000002.12:g.120349468G>A	NCI-TCGA
INHBB	P09529	p.Arg273Trp	rs754953119	missense variant	-	NC_000002.12:g.120349467C>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Val276Met	rs569598198	missense variant	-	NC_000002.12:g.120349476G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Val278Met	rs773509193	missense variant	-	NC_000002.12:g.120349482G>A	ExAC,gnomAD
INHBB	P09529	p.Gln279His	rs542203870	missense variant	-	NC_000002.12:g.120349487G>C	1000Genomes,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg281Trp	rs144228850	missense variant	-	NC_000002.12:g.120349491C>T	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Arg281Gly	rs144228850	missense variant	-	NC_000002.12:g.120349491C>G	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg281Gln	rs560571608	missense variant	-	NC_000002.12:g.120349492G>A	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Arg281Trp	rs144228850	missense variant	-	NC_000002.12:g.120349491C>T	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg281Gln	rs560571608	missense variant	-	NC_000002.12:g.120349492G>A	1000Genomes,gnomAD
INHBB	P09529	p.Leu282Pro	rs774682024	missense variant	-	NC_000002.12:g.120349495T>C	ExAC,gnomAD
INHBB	P09529	p.Asp284Asn	rs546435911	missense variant	-	NC_000002.12:g.120349500G>A	1000Genomes
INHBB	P09529	p.Asp284Asn	rs546435911	missense variant	-	NC_000002.12:g.120349500G>A	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Ser285Asn	rs201621303	missense variant	-	NC_000002.12:g.120349504G>A	1000Genomes,ExAC,TOPMed,gnomAD
INHBB	P09529	p.His287Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349510A>G	NCI-TCGA
INHBB	P09529	p.Arg288Cys	rs938023334	missense variant	-	NC_000002.12:g.120349512C>T	NCI-TCGA
INHBB	P09529	p.Arg288His	rs1054158512	missense variant	-	NC_000002.12:g.120349513G>A	NCI-TCGA Cosmic
INHBB	P09529	p.Arg288His	rs1054158512	missense variant	-	NC_000002.12:g.120349513G>A	TOPMed
INHBB	P09529	p.Arg288Cys	rs938023334	missense variant	-	NC_000002.12:g.120349512C>T	TOPMed,gnomAD
INHBB	P09529	p.Ile289Val	rs1417490012	missense variant	-	NC_000002.12:g.120349515A>G	gnomAD
INHBB	P09529	p.Arg290His	rs1474349413	missense variant	-	NC_000002.12:g.120349519G>A	TOPMed,gnomAD
INHBB	P09529	p.Arg290Cys	rs867394312	missense variant	-	NC_000002.12:g.120349518C>T	NCI-TCGA Cosmic
INHBB	P09529	p.Arg290Cys	rs867394312	missense variant	-	NC_000002.12:g.120349518C>T	-
INHBB	P09529	p.Arg292Gln	rs1472175416	missense variant	-	NC_000002.12:g.120349525G>A	gnomAD
INHBB	P09529	p.Asp297Asn	rs761406590	missense variant	-	NC_000002.12:g.120349539G>A	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Asp297Asn	rs761406590	missense variant	-	NC_000002.12:g.120349539G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Gly298Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349543G>A	NCI-TCGA
INHBB	P09529	p.Arg299Gln	rs764629213	missense variant	-	NC_000002.12:g.120349546G>A	NCI-TCGA
INHBB	P09529	p.Arg299Trp	rs867635709	missense variant	-	NC_000002.12:g.120349545C>T	TOPMed,gnomAD
INHBB	P09529	p.Arg299Gln	rs764629213	missense variant	-	NC_000002.12:g.120349546G>A	ExAC,gnomAD
INHBB	P09529	p.Gln307Pro	rs1313107093	missense variant	-	NC_000002.12:g.120349570A>C	gnomAD
INHBB	P09529	p.Phe309Ser	rs766335999	missense variant	-	NC_000002.12:g.120349576T>C	ExAC,gnomAD
INHBB	P09529	p.Ile310Val	rs751413878	missense variant	-	NC_000002.12:g.120349578A>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Ile310Thr	rs754755675	missense variant	-	NC_000002.12:g.120349579T>C	ExAC,gnomAD
INHBB	P09529	p.Arg313Ser	rs1357534120	missense variant	-	NC_000002.12:g.120349587C>A	TOPMed,gnomAD
INHBB	P09529	p.Arg313His	rs1317023671	missense variant	-	NC_000002.12:g.120349588G>A	NCI-TCGA
INHBB	P09529	p.Arg313His	rs1317023671	missense variant	-	NC_000002.12:g.120349588G>A	gnomAD
INHBB	P09529	p.Arg313Leu	rs1317023671	missense variant	-	NC_000002.12:g.120349588G>T	gnomAD
INHBB	P09529	p.Arg313Pro	COSM3797901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349588G>C	NCI-TCGA Cosmic
INHBB	P09529	p.Gly316Ser	rs756269241	missense variant	-	NC_000002.12:g.120349596G>A	ExAC,gnomAD
INHBB	P09529	p.Trp317Arg	COSM4084543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349599T>C	NCI-TCGA Cosmic
INHBB	P09529	p.Asn318Lys	rs61737545	missense variant	-	NC_000002.12:g.120349604C>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Asn318Ser	rs1257273235	missense variant	-	NC_000002.12:g.120349603A>G	gnomAD
INHBB	P09529	p.Asn318Asp	rs777687482	missense variant	-	NC_000002.12:g.120349602A>G	ExAC,gnomAD
INHBB	P09529	p.Asn318Lys	rs61737545	missense variant	-	NC_000002.12:g.120349604C>G	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Trp320Arg	rs771150890	missense variant	-	NC_000002.12:g.120349608T>C	ExAC
INHBB	P09529	p.Ile321Val	rs779036720	missense variant	-	NC_000002.12:g.120349611A>G	ExAC
INHBB	P09529	p.Ala323Val	rs772370834	missense variant	-	NC_000002.12:g.120349618C>T	ExAC,gnomAD
INHBB	P09529	p.Thr325Pro	rs1418628487	missense variant	-	NC_000002.12:g.120349623A>C	gnomAD
INHBB	P09529	p.Gly326Ser	rs17852732	missense variant	-	NC_000002.12:g.120349626G>A	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Tyr328Cys	COSM4851081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349633A>G	NCI-TCGA Cosmic
INHBB	P09529	p.Gly329Arg	rs1475923662	missense variant	-	NC_000002.12:g.120349635G>A	NCI-TCGA Cosmic
INHBB	P09529	p.Gly329Arg	rs1475923662	missense variant	-	NC_000002.12:g.120349635G>A	TOPMed
INHBB	P09529	p.Ser335Asn	rs201508130	missense variant	-	NC_000002.12:g.120349654G>A	1000Genomes,ExAC,gnomAD
INHBB	P09529	p.Pro337Ser	rs762495009	missense variant	-	NC_000002.12:g.120349659C>T	ExAC,gnomAD
INHBB	P09529	p.Ala338Pro	rs766134619	missense variant	-	NC_000002.12:g.120349662G>C	ExAC,gnomAD
INHBB	P09529	p.Gly342Glu	rs375325463	missense variant	-	NC_000002.12:g.120349675G>A	ESP
INHBB	P09529	p.Gly342Arg	rs1257723139	missense variant	-	NC_000002.12:g.120349674G>A	TOPMed
INHBB	P09529	p.Val343Phe	rs751219463	missense variant	-	NC_000002.12:g.120349677G>T	ExAC,gnomAD
INHBB	P09529	p.Pro344Thr	rs61737547	missense variant	-	NC_000002.12:g.120349680C>A	TOPMed,gnomAD
INHBB	P09529	p.Gly345Ser	rs767197423	missense variant	-	NC_000002.12:g.120349683G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Thr352Lys	rs777704323	missense variant	-	NC_000002.12:g.120349705C>A	ExAC,TOPMed
INHBB	P09529	p.Thr352Met	rs777704323	missense variant	-	NC_000002.12:g.120349705C>T	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Thr352Met	rs777704323	missense variant	-	NC_000002.12:g.120349705C>T	ExAC,TOPMed
INHBB	P09529	p.Thr352Ala	rs756005419	missense variant	-	NC_000002.12:g.120349704A>G	ExAC,gnomAD
INHBB	P09529	p.Ala353Val	rs1175488673	missense variant	-	NC_000002.12:g.120349708C>T	gnomAD
INHBB	P09529	p.Val354Leu	rs375362335	missense variant	-	NC_000002.12:g.120349710G>C	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Asn356Thr	rs779126855	missense variant	-	NC_000002.12:g.120349717A>C	ExAC,gnomAD
INHBB	P09529	p.Tyr358Cys	rs1394221213	missense variant	-	NC_000002.12:g.120349723A>G	gnomAD
INHBB	P09529	p.Arg359His	rs371205927	missense variant	-	NC_000002.12:g.120349726G>A	ESP,TOPMed,gnomAD
INHBB	P09529	p.Met360Thr	rs746066693	missense variant	-	NC_000002.12:g.120349729T>C	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Met360Ile	rs200244553	missense variant	-	NC_000002.12:g.120349730G>A	1000Genomes,ExAC,gnomAD
INHBB	P09529	p.Arg361Leu	COSM6087260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349732G>T	NCI-TCGA Cosmic
INHBB	P09529	p.Asn364Lys	rs769057982	missense variant	-	NC_000002.12:g.120349742C>G	ExAC,gnomAD
INHBB	P09529	p.Pro365His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349744C>A	NCI-TCGA
INHBB	P09529	p.Pro365Thr	rs1338075960	missense variant	-	NC_000002.12:g.120349743C>A	TOPMed
INHBB	P09529	p.Gly366Ser	rs762584441	missense variant	-	NC_000002.12:g.120349746G>A	NCI-TCGA,NCI-TCGA Cosmic
INHBB	P09529	p.Gly366Ser	rs762584441	missense variant	-	NC_000002.12:g.120349746G>A	ExAC,gnomAD
INHBB	P09529	p.Gly366Val	rs770518408	missense variant	-	NC_000002.12:g.120349747G>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Gly366Asp	rs770518408	missense variant	-	NC_000002.12:g.120349747G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Thr367Met	rs759235725	missense variant	-	NC_000002.12:g.120349750C>T	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Asn369Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349757C>A	NCI-TCGA
INHBB	P09529	p.Thr375Ile	rs1202723026	missense variant	-	NC_000002.12:g.120349774C>T	gnomAD
INHBB	P09529	p.Met380Ile	rs1468996997	missense variant	-	NC_000002.12:g.120349790G>A	TOPMed,gnomAD
INHBB	P09529	p.Met380Val	rs1275085699	missense variant	-	NC_000002.12:g.120349788A>G	gnomAD
INHBB	P09529	p.Met382Ile	rs1194163692	missense variant	-	NC_000002.12:g.120349796G>A	gnomAD
INHBB	P09529	p.Asp386Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349806G>T	NCI-TCGA
INHBB	P09529	p.Asp387Gly	COSM1005985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349810A>G	NCI-TCGA Cosmic
INHBB	P09529	p.Glu388Lys	COSM5072902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349812G>A	NCI-TCGA Cosmic
INHBB	P09529	p.Ile391Val	rs1427512441	missense variant	-	NC_000002.12:g.120349821A>G	gnomAD
INHBB	P09529	p.Val392Ile	rs369911045	missense variant	-	NC_000002.12:g.120349824G>A	ESP,ExAC,TOPMed,gnomAD
INHBB	P09529	p.Arg394Gln	rs373528779	missense variant	-	NC_000002.12:g.120349831G>A	ESP,TOPMed
INHBB	P09529	p.Val396Met	rs765268608	missense variant	-	NC_000002.12:g.120349836G>A	ExAC,gnomAD
INHBB	P09529	p.Val396Leu	rs765268608	missense variant	-	NC_000002.12:g.120349836G>C	ExAC,gnomAD
INHBB	P09529	p.Asn398Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349844C>A	NCI-TCGA
INHBB	P09529	p.Glu403Gln	rs1305975626	missense variant	-	NC_000002.12:g.120349857G>C	TOPMed
INHBB	P09529	p.Glu403Lys	COSM3565886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349857G>A	NCI-TCGA Cosmic
INHBB	P09529	p.Gly405Ser	rs747340870	missense variant	-	NC_000002.12:g.120349863G>A	ExAC,gnomAD
INHBB	P09529	p.Gly405Ser	rs747340870	missense variant	-	NC_000002.12:g.120349863G>A	NCI-TCGA
INHBB	P09529	p.Ala407Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120349870C>T	NCI-TCGA
INHBB	P09529	p.Ala407Thr	rs781770753	missense variant	-	NC_000002.12:g.120349869G>A	ExAC,TOPMed,gnomAD
INHBB	P09529	p.Ala407Ser	COSM6153562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120349869G>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Arg2Trp	rs148272095	missense variant	-	NC_000005.10:g.150137044G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg2Gly	rs148272095	missense variant	-	NC_000005.10:g.150137044G>C	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg2Gln	rs372399976	missense variant	-	NC_000005.10:g.150137043C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu3Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150137040A>G	NCI-TCGA
PDGFRB	P09619	p.Leu3Phe	rs757231368	missense variant	-	NC_000005.10:g.150137041G>A	ExAC,gnomAD
PDGFRB	P09619	p.Pro4Leu	rs144923639	missense variant	-	NC_000005.10:g.150137037G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro4Gln	rs144923639	missense variant	-	NC_000005.10:g.150137037G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro4Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150137038G>T	NCI-TCGA
PDGFRB	P09619	p.Gly5Asp	rs1431198340	missense variant	-	NC_000005.10:g.150137034C>T	gnomAD
PDGFRB	P09619	p.Ala6Val	rs150173975	missense variant	-	NC_000005.10:g.150137031G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala6Thr	rs766578665	missense variant	-	NC_000005.10:g.150137032C>T	ExAC,gnomAD
PDGFRB	P09619	p.Met7Arg	rs1432048735	missense variant	-	NC_000005.10:g.150137028A>C	gnomAD
PDGFRB	P09619	p.Pro8Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150137026G>A	NCI-TCGA
PDGFRB	P09619	p.Ala9Pro	rs748711817	missense variant	-	NC_000005.10:g.150137023C>G	ExAC,gnomAD
PDGFRB	P09619	p.Leu10Pro	rs576388049	missense variant	-	NC_000005.10:g.150137019A>G	1000Genomes,ExAC,gnomAD
PDGFRB	P09619	p.Ala11Val	rs1465066628	missense variant	-	NC_000005.10:g.150137016G>A	gnomAD
PDGFRB	P09619	p.Ala11Pro	rs199730626	missense variant	-	NC_000005.10:g.150137017C>G	1000Genomes,ExAC,gnomAD
PDGFRB	P09619	p.Ala11Thr	rs199730626	missense variant	-	NC_000005.10:g.150137017C>T	1000Genomes,ExAC,gnomAD
PDGFRB	P09619	p.Leu12Phe	rs746497331	missense variant	-	NC_000005.10:g.150137014G>A	ExAC,gnomAD
PDGFRB	P09619	p.Gly14Val	rs1252598875	missense variant	-	NC_000005.10:g.150135878C>A	gnomAD
PDGFRB	P09619	p.Glu15Lys	rs148853962	missense variant	-	NC_000005.10:g.150135876C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu15Ter	COSM6102829	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.150135876C>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Leu17Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150135870G>T	NCI-TCGA
PDGFRB	P09619	p.Ser20Pro	rs758433037	missense variant	-	NC_000005.10:g.150135861A>G	ExAC,gnomAD
PDGFRB	P09619	p.Ser20Cys	rs750698728	missense variant	-	NC_000005.10:g.150135860G>C	ExAC,gnomAD
PDGFRB	P09619	p.Leu21Phe	COSM737240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150135858G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Leu22Arg	rs1238451735	missense variant	-	NC_000005.10:g.150135854A>C	gnomAD
PDGFRB	P09619	p.Leu24Phe	rs762297182	missense variant	-	NC_000005.10:g.150135849G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro27Ser	rs758514857	missense variant	-	NC_000005.10:g.150135840G>A	gnomAD
PDGFRB	P09619	p.Ile29Phe	rs17110944	missense variant	-	NC_000005.10:g.150135834T>A	UniProt,dbSNP
PDGFRB	P09619	p.Ile29Phe	VAR_034377	missense variant	-	NC_000005.10:g.150135834T>A	UniProt
PDGFRB	P09619	p.Ile29Phe	rs17110944	missense variant	-	NC_000005.10:g.150135834T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ile29Phe	RCV000246485	missense variant	-	NC_000005.10:g.150135834T>A	ClinVar
PDGFRB	P09619	p.Ile29Phe	RCV000551181	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150135834T>A	ClinVar
PDGFRB	P09619	p.Ser30Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150135830G>T	NCI-TCGA
PDGFRB	P09619	p.Gln31Lys	rs764493388	missense variant	-	NC_000005.10:g.150135828G>T	ExAC,gnomAD
PDGFRB	P09619	p.Gln31Glu	COSM4844209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150135828G>C	NCI-TCGA Cosmic
PDGFRB	P09619	p.Gly32Ser	rs761286709	missense variant	-	NC_000005.10:g.150135825C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly32Asp	rs368010583	missense variant	-	NC_000005.10:g.150135824C>T	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Val35Ile	rs568728923	missense variant	-	NC_000005.10:g.150135816C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr36Ser	rs1159899108	missense variant	-	NC_000005.10:g.150135813T>A	gnomAD
PDGFRB	P09619	p.Thr36Ile	rs774107509	missense variant	-	NC_000005.10:g.150135812G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro37Ser	rs748906060	missense variant	-	NC_000005.10:g.150135810G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro37Ala	rs748906060	missense variant	-	NC_000005.10:g.150135810G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro38Arg	rs754766440	missense variant	-	NC_000005.10:g.150135806G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro38ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150135806G>-	NCI-TCGA
PDGFRB	P09619	p.Pro38Leu	rs754766440	missense variant	-	NC_000005.10:g.150135806G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly39Arg	rs750457698	missense variant	-	NC_000005.10:g.150135804C>G	ExAC,gnomAD
PDGFRB	P09619	p.Gly39Arg	rs750457698	missense variant	-	NC_000005.10:g.150135804C>T	ExAC,gnomAD
PDGFRB	P09619	p.Pro40Thr	rs1204706180	missense variant	-	NC_000005.10:g.150135801G>T	gnomAD
PDGFRB	P09619	p.Glu41Lys	rs1021692167	missense variant	-	NC_000005.10:g.150135798C>T	TOPMed
PDGFRB	P09619	p.Val43Ala	rs778982886	missense variant	-	NC_000005.10:g.150135791A>G	ExAC,gnomAD
PDGFRB	P09619	p.Leu44Phe	rs1239434481	missense variant	-	NC_000005.10:g.150135789G>A	TOPMed
PDGFRB	P09619	p.Asn45Ser	rs757431440	missense variant	-	NC_000005.10:g.150135785T>C	ExAC,gnomAD
PDGFRB	P09619	p.Ser48Gly	rs1323411468	missense variant	-	NC_000005.10:g.150135777T>C	TOPMed,gnomAD
PDGFRB	P09619	p.Phe50Leu	rs753583697	missense variant	-	NC_000005.10:g.150135769G>C	ExAC,gnomAD
PDGFRB	P09619	p.Val51Phe	COSM6102830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150135768C>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Val51Leu	rs761086433	missense variant	-	NC_000005.10:g.150135768C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val51Ile	rs761086433	missense variant	-	NC_000005.10:g.150135768C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Cys54Phe	rs1331996642	missense variant	-	NC_000005.10:g.150135758C>A	gnomAD
PDGFRB	P09619	p.Ser55Leu	rs147952898	missense variant	-	NC_000005.10:g.150135755G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser55Leu	RCV000523080	missense variant	-	NC_000005.10:g.150135755G>A	ClinVar
PDGFRB	P09619	p.Gly56Cys	rs1386589670	missense variant	-	NC_000005.10:g.150135753C>A	gnomAD
PDGFRB	P09619	p.Pro59Arg	rs202213873	missense variant	-	NC_000005.10:g.150135743G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro59Leu	rs202213873	missense variant	-	NC_000005.10:g.150135743G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro59Ser	rs144954868	missense variant	-	NC_000005.10:g.150135744G>A	ESP
PDGFRB	P09619	p.Val60Leu	rs1478236512	missense variant	-	NC_000005.10:g.150135741C>A	gnomAD
PDGFRB	P09619	p.Val61Leu	rs1372232728	missense variant	-	NC_000005.10:g.150135738C>A	gnomAD
PDGFRB	P09619	p.Trp62Ter	COSM1064302	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.150135733C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Glu63Lys	COSM5903561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150135732C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Arg64Gln	rs1244128395	missense variant	-	NC_000005.10:g.150135728C>T	gnomAD
PDGFRB	P09619	p.Arg64Trp	rs367993439	missense variant	-	NC_000005.10:g.150135729G>A	1000Genomes,ESP,ExAC,gnomAD
PDGFRB	P09619	p.Ser66Thr	rs747916560	missense variant	-	NC_000005.10:g.150135723A>T	ExAC,gnomAD
PDGFRB	P09619	p.Ser66Phe	rs1277924406	missense variant	-	NC_000005.10:g.150135722G>A	TOPMed
PDGFRB	P09619	p.Ser66Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150135723A>G	NCI-TCGA
PDGFRB	P09619	p.Gln67Pro	rs776609724	missense variant	-	NC_000005.10:g.150135719T>G	ExAC,gnomAD
PDGFRB	P09619	p.Glu68Asp	rs766277403	missense variant	-	NC_000005.10:g.150135715C>G	ExAC,gnomAD
PDGFRB	P09619	p.Glu68Asp	rs766277403	missense variant	-	NC_000005.10:g.150135715C>A	ExAC,gnomAD
PDGFRB	P09619	p.Pro70Arg	rs746904891	missense variant	-	NC_000005.10:g.150135710G>C	ExAC,gnomAD
PDGFRB	P09619	p.Gln71Arg	rs778879949	missense variant	-	NC_000005.10:g.150135707T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Met73Val	rs1230244085	missense variant	-	NC_000005.10:g.150135702T>C	TOPMed
PDGFRB	P09619	p.Ala74Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150135698G>A	NCI-TCGA
PDGFRB	P09619	p.Ala76Thr	rs1346227937	missense variant	-	NC_000005.10:g.150135693C>T	gnomAD
PDGFRB	P09619	p.Gln77Leu	rs1269978839	missense variant	-	NC_000005.10:g.150135689T>A	TOPMed,gnomAD
PDGFRB	P09619	p.Gln77Pro	rs1269978839	missense variant	-	NC_000005.10:g.150135689T>G	TOPMed,gnomAD
PDGFRB	P09619	p.Asp78Val	rs1436552710	missense variant	-	NC_000005.10:g.150135686T>A	gnomAD
PDGFRB	P09619	p.Gly79Ala	rs1224840287	missense variant	-	NC_000005.10:g.150135683C>G	gnomAD
PDGFRB	P09619	p.Ser82Cys	rs1297813606	missense variant	-	NC_000005.10:g.150135674G>C	gnomAD
PDGFRB	P09619	p.Val84Met	rs80162387	missense variant	-	NC_000005.10:g.150135669C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu85Phe	rs1414956735	missense variant	-	NC_000005.10:g.150135666G>A	gnomAD
PDGFRB	P09619	p.Thr86Ile	rs373647341	missense variant	-	NC_000005.10:g.150135662G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu87Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150135660G>T	NCI-TCGA
PDGFRB	P09619	p.Thr88Asn	rs147303614	missense variant	-	NC_000005.10:g.150135656G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr88Ile	rs147303614	missense variant	-	NC_000005.10:g.150135656G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu90Phe	rs765840983	missense variant	-	NC_000005.10:g.150135651G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu90Ile	rs765840983	missense variant	-	NC_000005.10:g.150135651G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu90His	rs1373590584	missense variant	-	NC_000005.10:g.150135650A>T	TOPMed
PDGFRB	P09619	p.Leu90Arg	NCI-TCGA novel	inframe deletion	-	NC_000005.10:g.150135633_150135650CCGTGTCTAGCCCAGTGA>-	NCI-TCGA
PDGFRB	P09619	p.Thr91Ala	rs1170328754	missense variant	-	NC_000005.10:g.150135648T>C	TOPMed
PDGFRB	P09619	p.Gly92Trp	rs141870925	missense variant	-	NC_000005.10:g.150135645C>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu93Arg	rs761665285	missense variant	-	NC_000005.10:g.150135641A>C	ExAC,gnomAD
PDGFRB	P09619	p.Leu93Ile	rs764858656	missense variant	-	NC_000005.10:g.150135642G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr95Met	rs1272810440	missense variant	-	NC_000005.10:g.150135635G>A	gnomAD
PDGFRB	P09619	p.Glu97Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.150135630C>A	NCI-TCGA
PDGFRB	P09619	p.Phe99Leu	rs1297885582	missense variant	-	NC_000005.10:g.150135622A>C	gnomAD
PDGFRB	P09619	p.Phe99Val	rs768446566	missense variant	-	NC_000005.10:g.150135624A>C	ExAC,gnomAD
PDGFRB	P09619	p.Phe99Cys	rs368624710	missense variant	-	NC_000005.10:g.150135623A>C	ESP
PDGFRB	P09619	p.Thr101Ala	rs1359022202	missense variant	-	NC_000005.10:g.150135618T>C	TOPMed
PDGFRB	P09619	p.His102Pro	rs755989080	missense variant	-	NC_000005.10:g.150135614T>G	ExAC,gnomAD
PDGFRB	P09619	p.His102Leu	rs755989080	missense variant	-	NC_000005.10:g.150135614T>A	ExAC,gnomAD
PDGFRB	P09619	p.His102Arg	rs755989080	missense variant	-	NC_000005.10:g.150135614T>C	ExAC,gnomAD
PDGFRB	P09619	p.Asn103Ser	rs770961190	missense variant	-	NC_000005.10:g.150135611T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asp104Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150135608T>C	NCI-TCGA
PDGFRB	P09619	p.Arg106Pro	rs544478083	missense variant	-	NC_000005.10:g.150135602C>G	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg106His	rs544478083	missense variant	-	NC_000005.10:g.150135602C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg106ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150135603G>-	NCI-TCGA
PDGFRB	P09619	p.Arg106Cys	rs756405938	missense variant	-	NC_000005.10:g.150135603G>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg106Ser	rs756405938	missense variant	-	NC_000005.10:g.150135603G>T	ExAC,gnomAD
PDGFRB	P09619	p.Gly107Val	rs1305691568	missense variant	-	NC_000005.10:g.150135599C>A	TOPMed
PDGFRB	P09619	p.Asp111Asn	rs558122968	missense variant	-	NC_000005.10:g.150135588C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asp111Gly	rs144757799	missense variant	-	NC_000005.10:g.150135587T>C	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Glu112Lys	rs749932332	missense variant	-	NC_000005.10:g.150135585C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg113Gln	rs764662524	missense variant	-	NC_000005.10:g.150135581C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg113Trp	rs968860845	missense variant	-	NC_000005.10:g.150135582G>A	TOPMed,gnomAD
PDGFRB	P09619	p.Lys114Asn	rs761474960	missense variant	-	NC_000005.10:g.150135577T>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg115Trp	rs776224834	missense variant	-	NC_000005.10:g.150135576G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg115Gln	rs763833875	missense variant	-	NC_000005.10:g.150135575C>T	ExAC,gnomAD
PDGFRB	P09619	p.Leu116Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150135573G>T	NCI-TCGA
PDGFRB	P09619	p.Ile118Val	rs1275782243	missense variant	-	NC_000005.10:g.150135567T>C	gnomAD
PDGFRB	P09619	p.Val120Leu	rs1221364318	missense variant	-	NC_000005.10:g.150135561C>A	gnomAD
PDGFRB	P09619	p.Pro123Leu	rs1410359446	missense variant	-	NC_000005.10:g.150135013G>A	gnomAD
PDGFRB	P09619	p.Pro123Ser	rs772384541	missense variant	-	NC_000005.10:g.150135014G>A	ExAC,gnomAD
PDGFRB	P09619	p.Thr124Ala	rs746412703	missense variant	-	NC_000005.10:g.150135011T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val125Met	rs540587683	missense variant	-	NC_000005.10:g.150135008C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val125Leu	rs540587683	missense variant	-	NC_000005.10:g.150135008C>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly126Ala	rs371293050	missense variant	-	NC_000005.10:g.150135004C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly126Asp	rs371293050	missense variant	-	NC_000005.10:g.150135004C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu128Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150134999G>T	NCI-TCGA
PDGFRB	P09619	p.Asp131Gly	rs767379166	missense variant	-	NC_000005.10:g.150134989T>C	ExAC
PDGFRB	P09619	p.Glu134Gly	COSM283928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150134980T>C	NCI-TCGA Cosmic
PDGFRB	P09619	p.Leu135Arg	rs1361500940	missense variant	-	NC_000005.10:g.150134977A>C	gnomAD
PDGFRB	P09619	p.Ile137Met	COSM737241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150134970G>C	NCI-TCGA Cosmic
PDGFRB	P09619	p.Thr140Met	rs138830253	missense variant	-	NC_000005.10:g.150134962G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr140Ala	rs1437407455	missense variant	-	NC_000005.10:g.150134963T>C	gnomAD
PDGFRB	P09619	p.Glu141Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150134960C>T	NCI-TCGA
PDGFRB	P09619	p.Glu144Asp	rs1361327537	missense variant	-	NC_000005.10:g.150134949C>A	gnomAD
PDGFRB	P09619	p.Pro148Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150134938G>A	NCI-TCGA
PDGFRB	P09619	p.Arg150Gln	rs760987130	missense variant	-	NC_000005.10:g.150134932C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val151Ile	rs775542260	missense variant	-	NC_000005.10:g.150134930C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asp153His	COSM6102831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150134924C>G	NCI-TCGA Cosmic
PDGFRB	P09619	p.Pro154Ser	rs746218367	missense variant	-	NC_000005.10:g.150134921G>A	ExAC,TOPMed
PDGFRB	P09619	p.Pro154Arg	rs774900944	missense variant	-	NC_000005.10:g.150134920G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gln155His	rs950743987	missense variant	-	NC_000005.10:g.150134916C>A	TOPMed,gnomAD
PDGFRB	P09619	p.Leu156Met	rs1399184006	missense variant	-	NC_000005.10:g.150134915G>T	TOPMed,gnomAD
PDGFRB	P09619	p.Val158Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150134908A>T	NCI-TCGA
PDGFRB	P09619	p.Val158Ala	COSM4877412	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150134908A>G	NCI-TCGA Cosmic
PDGFRB	P09619	p.Thr159Ser	rs755541652	missense variant	-	NC_000005.10:g.150134906T>A	ExAC,gnomAD
PDGFRB	P09619	p.Leu160Val	rs747877386	missense variant	-	NC_000005.10:g.150134903G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu162Lys	RCV000707161	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150134897C>T	ClinVar
PDGFRB	P09619	p.Lys164Asn	rs751395575	missense variant	-	NC_000005.10:g.150134889T>G	ExAC,gnomAD
PDGFRB	P09619	p.Val167Ile	rs144857517	missense variant	-	NC_000005.10:g.150134882C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala168Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150134878G>A	NCI-TCGA
PDGFRB	P09619	p.Pro172Leu	rs1170155189	missense variant	-	NC_000005.10:g.150134866G>A	gnomAD
PDGFRB	P09619	p.Tyr173Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150134863T>A	NCI-TCGA
PDGFRB	P09619	p.His175Arg	rs1429997118	missense variant	-	NC_000005.10:g.150134857T>C	gnomAD
PDGFRB	P09619	p.Arg177Leu	rs759684681	missense variant	-	NC_000005.10:g.150134851C>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg177Cys	rs142683442	missense variant	-	NC_000005.10:g.150134852G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg177His	rs759684681	missense variant	-	NC_000005.10:g.150134851C>T	ExAC,gnomAD
PDGFRB	P09619	p.Ser180Cys	rs17853027	missense variant	-	NC_000005.10:g.150134842G>C	gnomAD
PDGFRB	P09619	p.Ser180Phe	rs17853027	missense variant	-	NC_000005.10:g.150134842G>A	UniProt,dbSNP
PDGFRB	P09619	p.Ser180Phe	VAR_035125	missense variant	-	NC_000005.10:g.150134842G>A	UniProt
PDGFRB	P09619	p.Ser180Phe	rs17853027	missense variant	-	NC_000005.10:g.150134842G>A	gnomAD
PDGFRB	P09619	p.Gly181Arg	rs574853772	missense variant	-	NC_000005.10:g.150134840C>G	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly181Ser	rs574853772	missense variant	-	NC_000005.10:g.150134840C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly181Ala	rs771234317	missense variant	-	NC_000005.10:g.150134839C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu184Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150134831C>T	NCI-TCGA
PDGFRB	P09619	p.Ile189Thr	rs749830302	missense variant	-	NC_000005.10:g.150134815A>G	ExAC,gnomAD
PDGFRB	P09619	p.Cys190Tyr	rs1207642277	missense variant	-	NC_000005.10:g.150134812C>T	gnomAD
PDGFRB	P09619	p.Thr192Ser	rs773564134	missense variant	-	NC_000005.10:g.150134806G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr192Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150134806G>T	NCI-TCGA
PDGFRB	P09619	p.Thr193Ala	rs747602665	missense variant	-	NC_000005.10:g.150134804T>C	ExAC,gnomAD
PDGFRB	P09619	p.Thr193Ile	rs781058044	missense variant	-	NC_000005.10:g.150134803G>A	ExAC,gnomAD
PDGFRB	P09619	p.Ile194Val	rs754682330	missense variant	-	NC_000005.10:g.150134801T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ile194Thr	rs2229560	missense variant	-	NC_000005.10:g.150134800A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asp196Glu	rs758095904	missense variant	-	NC_000005.10:g.150134793G>C	ExAC,gnomAD
PDGFRB	P09619	p.Asp196Tyr	rs145459651	missense variant	-	NC_000005.10:g.150134795C>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg197Lys	rs116642123	missense variant	-	NC_000005.10:g.150134791C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg197Gly	rs1364595043	missense variant	-	NC_000005.10:g.150134792T>C	gnomAD
PDGFRB	P09619	p.Glu198Lys	rs1330417953	missense variant	-	NC_000005.10:g.150134789C>T	TOPMed
PDGFRB	P09619	p.Tyr204Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.150134769G>T	NCI-TCGA
PDGFRB	P09619	p.Tyr205Cys	rs765070977	missense variant	-	NC_000005.10:g.150134767T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Tyr207Cys	rs1253754606	missense variant	-	NC_000005.10:g.150134761T>C	gnomAD
PDGFRB	P09619	p.Arg208Ser	rs374440746	missense variant	-	NC_000005.10:g.150134757T>G	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu209His	rs767523277	missense variant	-	NC_000005.10:g.150134755A>T	ExAC,gnomAD
PDGFRB	P09619	p.Val216Ile	rs370817438	missense variant	-	NC_000005.10:g.150133994C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val216Leu	rs370817438	missense variant	-	NC_000005.10:g.150133994C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val216Ala	rs1366664975	missense variant	-	NC_000005.10:g.150133993A>G	TOPMed
PDGFRB	P09619	p.Ser217Cys	rs368231732	missense variant	-	NC_000005.10:g.150133990G>C	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala220Thr	rs552941597	missense variant	-	NC_000005.10:g.150133982C>T	1000Genomes,ExAC,gnomAD
PDGFRB	P09619	p.Val221Met	rs770718375	missense variant	-	NC_000005.10:g.150133979C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val221Leu	rs770718375	missense variant	-	NC_000005.10:g.150133979C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg226Leu	rs749262788	missense variant	-	NC_000005.10:g.150133963C>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg226His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150133963C>T	NCI-TCGA
PDGFRB	P09619	p.Gln227Arg	rs1189852609	missense variant	-	NC_000005.10:g.150133960T>C	gnomAD
PDGFRB	P09619	p.Gln227Lys	rs1451340800	missense variant	-	NC_000005.10:g.150133961G>T	TOPMed
PDGFRB	P09619	p.Gly228Asp	rs374239531	missense variant	-	NC_000005.10:g.150133957C>T	ESP,TOPMed
PDGFRB	P09619	p.Gly228Asp	RCV000171387	missense variant	-	NC_000005.10:g.150133957C>T	ClinVar
PDGFRB	P09619	p.Gly228Ala	rs374239531	missense variant	-	NC_000005.10:g.150133957C>G	ESP,TOPMed
PDGFRB	P09619	p.Met234Val	rs755109587	missense variant	-	NC_000005.10:g.150133940T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ile236Val	rs1273486607	missense variant	-	NC_000005.10:g.150133934T>C	gnomAD
PDGFRB	P09619	p.Ile238Met	COSM3612483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150133926G>C	NCI-TCGA Cosmic
PDGFRB	P09619	p.Gly239Arg	rs1465364786	missense variant	-	NC_000005.10:g.150133925C>T	TOPMed
PDGFRB	P09619	p.Asn240Ser	COSM1064300	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150133921T>C	NCI-TCGA Cosmic
PDGFRB	P09619	p.Asn244Lys	rs750613456	missense variant	-	NC_000005.10:g.150133908G>C	ExAC,gnomAD
PDGFRB	P09619	p.Phe245Cys	COSM1736653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150133906A>C	NCI-TCGA Cosmic
PDGFRB	P09619	p.Trp247Ter	rs1338652552	stop gained	-	NC_000005.10:g.150133900C>T	gnomAD
PDGFRB	P09619	p.Arg251His	rs754451292	missense variant	-	NC_000005.10:g.150133888C>T	ExAC,gnomAD
PDGFRB	P09619	p.Arg251Cys	rs757668250	missense variant	-	NC_000005.10:g.150133889G>A	ExAC,TOPMed
PDGFRB	P09619	p.Gly255Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150133756C>T	NCI-TCGA
PDGFRB	P09619	p.Arg256Trp	rs147568171	missense variant	-	NC_000005.10:g.150133754G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg256Gln	rs1351556504	missense variant	-	NC_000005.10:g.150133753C>T	TOPMed
PDGFRB	P09619	p.Arg256Trp	RCV000523885	missense variant	-	NC_000005.10:g.150133754G>A	ClinVar
PDGFRB	P09619	p.Val258Met	rs756516035	missense variant	-	NC_000005.10:g.150133748C>T	ExAC,gnomAD
PDGFRB	P09619	p.Pro260Leu	rs753192549	missense variant	-	NC_000005.10:g.150133741G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Phe264Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150133730A>T	NCI-TCGA
PDGFRB	P09619	p.Leu266Phe	rs1358495175	missense variant	-	NC_000005.10:g.150133722C>G	TOPMed
PDGFRB	P09619	p.Asp267Asn	rs754514493	missense variant	-	NC_000005.10:g.150133721C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asp267Gly	rs751085975	missense variant	-	NC_000005.10:g.150133720T>C	ExAC,gnomAD
PDGFRB	P09619	p.Asp267Tyr	rs754514493	missense variant	-	NC_000005.10:g.150133721C>A	ExAC,gnomAD
PDGFRB	P09619	p.His271Tyr	rs894979868	missense variant	-	NC_000005.10:g.150133709G>A	gnomAD
PDGFRB	P09619	p.Ile272Leu	rs765818881	missense variant	-	NC_000005.10:g.150133706T>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg273His	rs1190335517	missense variant	-	NC_000005.10:g.150133702C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Arg273Cys	rs373131428	missense variant	-	NC_000005.10:g.150133703G>A	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Ser274Cys	rs1476817374	missense variant	-	NC_000005.10:g.150133699G>C	gnomAD
PDGFRB	P09619	p.Leu276Val	rs750040840	missense variant	-	NC_000005.10:g.150133694G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.His277Tyr	rs1206963952	missense variant	-	NC_000005.10:g.150133691G>A	TOPMed
PDGFRB	P09619	p.Ile278Leu	rs369581401	missense variant	-	NC_000005.10:g.150133688T>G	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro279Arg	rs1483264770	missense variant	-	NC_000005.10:g.150133684G>C	TOPMed
PDGFRB	P09619	p.Ser280Arg	rs761649485	missense variant	-	NC_000005.10:g.150133680A>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala281Val	rs776497082	missense variant	-	NC_000005.10:g.150133678G>A	ExAC,gnomAD
PDGFRB	P09619	p.Glu282Lys	rs34586048	missense variant	-	NC_000005.10:g.150133676C>T	UniProt,dbSNP
PDGFRB	P09619	p.Glu282Lys	VAR_042027	missense variant	-	NC_000005.10:g.150133676C>T	UniProt
PDGFRB	P09619	p.Glu282Lys	rs34586048	missense variant	-	NC_000005.10:g.150133676C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu282Asp	rs774591563	missense variant	-	NC_000005.10:g.150133674C>G	ExAC,gnomAD
PDGFRB	P09619	p.Glu284Lys	rs771094828	missense variant	-	NC_000005.10:g.150133670C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asp285Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150133666T>G	NCI-TCGA
PDGFRB	P09619	p.Ser286Leu	rs749560540	missense variant	-	NC_000005.10:g.150133663G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr288Ala	rs977354055	missense variant	-	NC_000005.10:g.150133658T>C	TOPMed,gnomAD
PDGFRB	P09619	p.Thr288Ser	rs770112868	missense variant	-	NC_000005.10:g.150133657G>C	ExAC,gnomAD
PDGFRB	P09619	p.Thr290Ser	rs147707126	missense variant	-	NC_000005.10:g.150133651G>C	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Thr290Ile	rs147707126	missense variant	-	NC_000005.10:g.150133651G>A	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Cys291Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150133648C>T	NCI-TCGA
PDGFRB	P09619	p.Cys291Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150133649A>G	NCI-TCGA
PDGFRB	P09619	p.Asn292Ser	rs1175765188	missense variant	-	NC_000005.10:g.150133645T>C	TOPMed,gnomAD
PDGFRB	P09619	p.Thr294Ala	rs61732347	missense variant	-	NC_000005.10:g.150133640T>C	gnomAD
PDGFRB	P09619	p.Thr294Pro	rs61732347	missense variant	-	NC_000005.10:g.150133640T>G	gnomAD
PDGFRB	P09619	p.Thr294Met	rs374864774	missense variant	-	NC_000005.10:g.150133639G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser296Cys	rs764858967	missense variant	-	NC_000005.10:g.150133634T>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser296Arg	rs753677621	missense variant	-	NC_000005.10:g.150133632A>T	ExAC,gnomAD
PDGFRB	P09619	p.Asp299Glu	rs1465274173	missense variant	-	NC_000005.10:g.150133623G>T	TOPMed,gnomAD
PDGFRB	P09619	p.His300Leu	rs546647851	missense variant	-	NC_000005.10:g.150133621T>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.His300Arg	rs546647851	missense variant	-	NC_000005.10:g.150133621T>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu303Ala	rs1202005152	missense variant	-	NC_000005.10:g.150133612T>G	gnomAD
PDGFRB	P09619	p.Lys304Arg	rs760689123	missense variant	-	NC_000005.10:g.150133609T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asn307Thr	rs775536586	missense variant	-	NC_000005.10:g.150133600T>G	ExAC,gnomAD
PDGFRB	P09619	p.Ile308Val	rs1275640834	missense variant	-	NC_000005.10:g.150133598T>C	TOPMed
PDGFRB	P09619	p.Val310Met	rs1364630262	missense variant	-	NC_000005.10:g.150133592C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Val311Ile	rs915463868	missense variant	-	NC_000005.10:g.150133589C>T	TOPMed
PDGFRB	P09619	p.Ser313Asn	rs1162681591	missense variant	-	NC_000005.10:g.150132939C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Gly314Ser	rs1009638728	missense variant	-	NC_000005.10:g.150132937C>T	gnomAD
PDGFRB	P09619	p.Gly314Cys	rs1009638728	missense variant	-	NC_000005.10:g.150132937C>A	gnomAD
PDGFRB	P09619	p.Val316Met	RCV000335817	missense variant	-	NC_000005.10:g.150132931C>T	ClinVar
PDGFRB	P09619	p.Val316Ala	rs201765870	missense variant	-	NC_000005.10:g.150132930A>G	1000Genomes,ExAC,gnomAD
PDGFRB	P09619	p.Val316Met	rs41287112	missense variant	-	NC_000005.10:g.150132931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val316Leu	rs41287112	missense variant	-	NC_000005.10:g.150132931C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg317Trp	rs759481106	missense variant	-	NC_000005.10:g.150132928G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg317Gln	rs1443597666	missense variant	-	NC_000005.10:g.150132927C>T	gnomAD
PDGFRB	P09619	p.Glu321Asp	rs773441060	missense variant	-	NC_000005.10:g.150132914C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly323Ser	rs765183053	missense variant	-	NC_000005.10:g.150132910C>T	ExAC,gnomAD
PDGFRB	P09619	p.Gly323Asp	rs374208706	missense variant	-	NC_000005.10:g.150132909C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly323Cys	COSM1435165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132910C>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Thr324Ile	rs372924064	missense variant	-	NC_000005.10:g.150132906G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu325Arg	rs1294402409	missense variant	-	NC_000005.10:g.150132903A>C	TOPMed,gnomAD
PDGFRB	P09619	p.Ala328Val	rs369442822	missense variant	-	NC_000005.10:g.150132894G>A	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Leu330Pro	rs1391612009	missense variant	-	NC_000005.10:g.150132888A>G	gnomAD
PDGFRB	P09619	p.Arg332Trp	rs1291265658	missense variant	-	NC_000005.10:g.150132883G>A	gnomAD
PDGFRB	P09619	p.Arg332Gln	rs776046151	missense variant	-	NC_000005.10:g.150132882C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser333Asn	rs1395162931	missense variant	-	NC_000005.10:g.150132879C>T	gnomAD
PDGFRB	P09619	p.Arg334Leu	rs375079353	missense variant	-	NC_000005.10:g.150132876C>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg334Gln	rs375079353	missense variant	-	NC_000005.10:g.150132876C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg334Trp	rs150846835	missense variant	-	NC_000005.10:g.150132877G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gln337Arg	rs777277212	missense variant	-	NC_000005.10:g.150132867T>C	ExAC,gnomAD
PDGFRB	P09619	p.Val338Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150132864A>G	NCI-TCGA
PDGFRB	P09619	p.Val338Ile	rs1275407530	missense variant	-	NC_000005.10:g.150132865C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Phe340Leu	rs775533791	missense variant	-	NC_000005.10:g.150132857G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu341Gln	rs942220808	missense variant	-	NC_000005.10:g.150132856C>G	TOPMed,gnomAD
PDGFRB	P09619	p.Glu341Lys	rs942220808	missense variant	-	NC_000005.10:g.150132856C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Pro344Ala	rs767364248	missense variant	-	NC_000005.10:g.150132847G>C	ExAC,gnomAD
PDGFRB	P09619	p.Pro345Gln	rs201250234	missense variant	-	NC_000005.10:g.150132843G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro345Leu	rs201250234	missense variant	-	NC_000005.10:g.150132843G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro345Ser	rs2229558	missense variant	-	NC_000005.10:g.150132844G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro345Ser	RCV000420025	missense variant	-	NC_000005.10:g.150132844G>A	ClinVar
PDGFRB	P09619	p.Pro346Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150132841G>T	NCI-TCGA
PDGFRB	P09619	p.Thr347Ala	rs761780839	missense variant	-	NC_000005.10:g.150132838T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val348Phe	rs1371019308	missense variant	-	NC_000005.10:g.150132835C>A	gnomAD
PDGFRB	P09619	p.Val348Asp	rs1020494503	missense variant	-	NC_000005.10:g.150132834A>T	TOPMed
PDGFRB	P09619	p.Leu349Val	rs368862822	missense variant	-	NC_000005.10:g.150132832G>C	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Trp350Leu	rs764220634	missense variant	-	NC_000005.10:g.150132828C>A	ExAC,gnomAD
PDGFRB	P09619	p.Phe351Tyr	rs760825537	missense variant	-	NC_000005.10:g.150132825A>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Phe351Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150132824G>C	NCI-TCGA
PDGFRB	P09619	p.Asp353His	rs1465327575	missense variant	-	NC_000005.10:g.150132820C>G	gnomAD
PDGFRB	P09619	p.Asn354Lys	rs1473502268	missense variant	-	NC_000005.10:g.150132815G>T	TOPMed
PDGFRB	P09619	p.Arg355His	rs746410632	missense variant	-	NC_000005.10:g.150132813C>T	ExAC,gnomAD
PDGFRB	P09619	p.Arg355Cys	rs140008145	missense variant	-	NC_000005.10:g.150132814G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr356Ile	rs774697563	missense variant	-	NC_000005.10:g.150132810G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr356Ser	rs774697563	missense variant	-	NC_000005.10:g.150132810G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly358Asp	rs976884121	missense variant	-	NC_000005.10:g.150132804C>T	TOPMed
PDGFRB	P09619	p.Asp359Tyr	rs375484098	missense variant	-	NC_000005.10:g.150132802C>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asp359Asn	rs375484098	missense variant	-	NC_000005.10:g.150132802C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser360Cys	rs1463915643	missense variant	-	NC_000005.10:g.150132798G>C	gnomAD
PDGFRB	P09619	p.Ala362Thr	rs747756021	missense variant	-	NC_000005.10:g.150132793C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu364Lys	rs754790326	missense variant	-	NC_000005.10:g.150132787C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala366Thr	rs368602685	missense variant	-	NC_000005.10:g.150132781C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr369Met	rs375343084	missense variant	-	NC_000005.10:g.150132771G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr369Lys	rs375343084	missense variant	-	NC_000005.10:g.150132771G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg370His	rs1399784936	missense variant	-	NC_000005.10:g.150132768C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Arg370Leu	rs1399784936	missense variant	-	NC_000005.10:g.150132768C>A	TOPMed,gnomAD
PDGFRB	P09619	p.Arg370Ser	rs200684708	missense variant	-	NC_000005.10:g.150132769G>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg370Cys	rs200684708	missense variant	-	NC_000005.10:g.150132769G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val372Met	rs371975483	missense variant	-	NC_000005.10:g.150132763C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser373Trp	rs769483792	missense variant	-	NC_000005.10:g.150132759G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser373Leu	rs769483792	missense variant	-	NC_000005.10:g.150132759G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr375Ile	rs1244335026	missense variant	-	NC_000005.10:g.150132753G>A	gnomAD
PDGFRB	P09619	p.Arg376Gln	rs1442264858	missense variant	-	NC_000005.10:g.150132750C>T	gnomAD
PDGFRB	P09619	p.Arg376Trp	rs142621427	missense variant	-	NC_000005.10:g.150132751G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr382Ile	rs768431684	missense variant	-	NC_000005.10:g.150132077G>A	ExAC,gnomAD
PDGFRB	P09619	p.Leu383Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150132074A>C	NCI-TCGA
PDGFRB	P09619	p.Arg385Cys	rs1167658274	missense variant	-	NC_000005.10:g.150132069G>A	gnomAD
PDGFRB	P09619	p.Arg385Pro	rs375122221	missense variant	-	NC_000005.10:g.150132068C>G	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Arg385His	rs375122221	missense variant	-	NC_000005.10:g.150132068C>T	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Val386Met	rs541469612	missense variant	-	NC_000005.10:g.150132066C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Val386Leu	rs541469612	missense variant	-	NC_000005.10:g.150132066C>G	TOPMed,gnomAD
PDGFRB	P09619	p.Lys387Arg	rs1270152563	missense variant	-	NC_000005.10:g.150132062T>C	TOPMed
PDGFRB	P09619	p.Lys387Asn	rs778805941	missense variant	-	NC_000005.10:g.150132061C>A	ExAC,gnomAD
PDGFRB	P09619	p.Ala389Pro	rs756251957	missense variant	-	NC_000005.10:g.150132057C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala389Thr	rs756251957	missense variant	-	NC_000005.10:g.150132057C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu390Lys	COSM3852739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132054C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.His393Arg	rs1449303846	missense variant	-	NC_000005.10:g.150132044T>C	gnomAD
PDGFRB	P09619	p.His393Pro	COSM6102832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132044T>G	NCI-TCGA Cosmic
PDGFRB	P09619	p.Thr395Ile	rs781190777	missense variant	-	NC_000005.10:g.150132038G>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg397Gln	rs751766664	missense variant	-	NC_000005.10:g.150132032C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg397Trp	rs377445092	missense variant	-	NC_000005.10:g.150132033G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala398Asp	COSM3994115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132029G>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Ala398Thr	rs1201443547	missense variant	-	NC_000005.10:g.150132030C>T	TOPMed
PDGFRB	P09619	p.Phe399Cys	rs766693794	missense variant	-	NC_000005.10:g.150132026A>C	ExAC,gnomAD
PDGFRB	P09619	p.Phe399Leu	rs1375825791	missense variant	-	NC_000005.10:g.150132025G>C	gnomAD
PDGFRB	P09619	p.Ala403Val	COSM1064298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150132014G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Glu404Gly	rs1269475186	missense variant	-	NC_000005.10:g.150132011T>C	TOPMed
PDGFRB	P09619	p.Gln406Arg	rs374802057	missense variant	-	NC_000005.10:g.150132005T>C	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser408Cys	rs200203294	missense variant	-	NC_000005.10:g.150131999G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gln410Ter	rs1462400450	stop gained	-	NC_000005.10:g.150131994G>A	gnomAD
PDGFRB	P09619	p.Asn414Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150131981T>G	NCI-TCGA
PDGFRB	P09619	p.Arg418Ter	rs1282693161	stop gained	-	NC_000005.10:g.150130654G>A	gnomAD
PDGFRB	P09619	p.Arg418Gln	rs371365227	missense variant	-	NC_000005.10:g.150130653C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu422Val	COSM3852738	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150130642G>C	NCI-TCGA Cosmic
PDGFRB	P09619	p.Ser425Gly	rs759129025	missense variant	-	NC_000005.10:g.150130633T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.His426Pro	rs774153485	missense variant	-	NC_000005.10:g.150130629T>G	ExAC,gnomAD
PDGFRB	P09619	p.Pro427Ser	rs199873101	missense variant	-	NC_000005.10:g.150130627G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser429Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150130621T>A	NCI-TCGA
PDGFRB	P09619	p.Gly430Arg	rs762918648	missense variant	-	NC_000005.10:g.150130618C>T	ExAC,gnomAD
PDGFRB	P09619	p.Glu431Lys	COSM3919353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150130615C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Thr433Arg	rs773179772	missense variant	-	NC_000005.10:g.150130608G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val434Ala	rs1014568373	missense variant	-	NC_000005.10:g.150130605A>G	TOPMed,gnomAD
PDGFRB	P09619	p.Arg435Cys	rs747109578	missense variant	-	NC_000005.10:g.150130603G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg435His	rs904740973	missense variant	-	NC_000005.10:g.150130602C>T	gnomAD
PDGFRB	P09619	p.Arg437Cys	rs772355478	missense variant	-	NC_000005.10:g.150130597G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg437His	COSM449099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150130596C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Arg439Gln	rs746042729	missense variant	-	NC_000005.10:g.150130590C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg439Trp	rs1013933182	missense variant	-	NC_000005.10:g.150130591G>A	TOPMed,gnomAD
PDGFRB	P09619	p.Arg439Pro	rs746042729	missense variant	-	NC_000005.10:g.150130590C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Met441Thr	rs757670561	missense variant	-	NC_000005.10:g.150130584A>G	ExAC,gnomAD
PDGFRB	P09619	p.Gln443Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.150130579G>A	NCI-TCGA
PDGFRB	P09619	p.Pro444Leu	rs1480384731	missense variant	-	NC_000005.10:g.150130575G>A	gnomAD
PDGFRB	P09619	p.Pro444Ser	rs1211844128	missense variant	-	NC_000005.10:g.150130576G>A	TOPMed,gnomAD
PDGFRB	P09619	p.Pro444Ala	rs1211844128	missense variant	-	NC_000005.10:g.150130576G>C	TOPMed,gnomAD
PDGFRB	P09619	p.Pro444Ala	RCV000658217	missense variant	-	NC_000005.10:g.150130576G>C	ClinVar
PDGFRB	P09619	p.Ile446Thr	rs1318048844	missense variant	-	NC_000005.10:g.150130569A>G	TOPMed,gnomAD
PDGFRB	P09619	p.Ile446Val	rs778336670	missense variant	-	NC_000005.10:g.150130570T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ile446Phe	rs778336670	missense variant	-	NC_000005.10:g.150130570T>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ile447Val	rs756509220	missense variant	-	NC_000005.10:g.150130567T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser449Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150130561A>G	NCI-TCGA
PDGFRB	P09619	p.Ser449Phe	RCV000705837	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150130560G>A	ClinVar
PDGFRB	P09619	p.Ser449Phe	rs1312583190	missense variant	-	NC_000005.10:g.150130560G>A	gnomAD
PDGFRB	P09619	p.Ala450Val	rs533669173	missense variant	-	NC_000005.10:g.150130557G>A	1000Genomes,TOPMed,gnomAD
PDGFRB	P09619	p.Ala450Thr	rs1231850359	missense variant	-	NC_000005.10:g.150130558C>T	gnomAD
PDGFRB	P09619	p.Arg452Gly	rs752263132	missense variant	-	NC_000005.10:g.150130552T>C	ExAC,gnomAD
PDGFRB	P09619	p.Asp453Glu	COSM449098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150130547G>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Leu454Phe	rs759216802	missense variant	-	NC_000005.10:g.150130546G>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg456Ser	rs780793425	missense variant	-	NC_000005.10:g.150129968C>A	ExAC,gnomAD
PDGFRB	P09619	p.Cys457Gly	rs1442967717	missense variant	-	NC_000005.10:g.150129967A>C	gnomAD
PDGFRB	P09619	p.Pro458Arg	rs1395004196	missense variant	-	NC_000005.10:g.150129963G>C	gnomAD
PDGFRB	P09619	p.Pro458Ser	COSM3612477	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150129964G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Arg459His	rs149274963	missense variant	-	NC_000005.10:g.150129960C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg459Cys	rs571553115	missense variant	-	NC_000005.10:g.150129961G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu460Ala	rs1240381266	missense variant	-	NC_000005.10:g.150129957T>G	TOPMed
PDGFRB	P09619	p.Glu460Lys	rs202179598	missense variant	-	NC_000005.10:g.150129958C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro462Leu	rs372793684	missense variant	-	NC_000005.10:g.150129951G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro463Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150129948G>A	NCI-TCGA
PDGFRB	P09619	p.Thr464Arg	rs74943037	missense variant	-	NC_000005.10:g.150129945G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr464Met	RCV000538137	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150129945G>A	ClinVar
PDGFRB	P09619	p.Thr464Met	rs74943037	missense variant	-	NC_000005.10:g.150129945G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly467Arg	rs776406062	missense variant	-	NC_000005.10:g.150129937C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser469Arg	rs375139942	missense variant	-	NC_000005.10:g.150129929A>T	ESP,gnomAD
PDGFRB	P09619	p.Ser469Asn	rs759681074	missense variant	-	NC_000005.10:g.150129930C>T	ExAC,gnomAD
PDGFRB	P09619	p.Ser470Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150129927G>A	NCI-TCGA
PDGFRB	P09619	p.Ser470Cys	rs1450397504	missense variant	-	NC_000005.10:g.150129927G>C	gnomAD
PDGFRB	P09619	p.Glu471Lys	rs914677813	missense variant	-	NC_000005.10:g.150129925C>T	gnomAD
PDGFRB	P09619	p.Glu472Val	rs371842708	missense variant	-	NC_000005.10:g.150129921T>A	ESP,gnomAD
PDGFRB	P09619	p.Leu476Met	rs778195829	missense variant	-	NC_000005.10:g.150129910G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu477Asp	rs773656622	missense variant	-	NC_000005.10:g.150129905C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr478Ile	rs1386853940	missense variant	-	NC_000005.10:g.150129903G>A	TOPMed,gnomAD
PDGFRB	P09619	p.Thr478Ser	rs1386853940	missense variant	-	NC_000005.10:g.150129903G>C	TOPMed,gnomAD
PDGFRB	P09619	p.Asn479Lys	rs371550567	missense variant	-	NC_000005.10:g.150129899G>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val480Met	rs146931547	missense variant	-	NC_000005.10:g.150129898C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val480Leu	rs146931547	missense variant	-	NC_000005.10:g.150129898C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr481Met	rs758072563	missense variant	-	NC_000005.10:g.150129894G>A	ExAC,gnomAD
PDGFRB	P09619	p.Thr481Pro	rs779484502	missense variant	-	NC_000005.10:g.150129895T>G	ExAC,gnomAD
PDGFRB	P09619	p.Glu484Lys	rs765124485	missense variant	-	NC_000005.10:g.150129886C>T	ExAC,gnomAD
PDGFRB	P09619	p.Glu485Lys	rs41287110	missense variant	-	NC_000005.10:g.150129883C>T	UniProt,dbSNP
PDGFRB	P09619	p.Glu485Lys	VAR_042028	missense variant	-	NC_000005.10:g.150129883C>T	UniProt
PDGFRB	P09619	p.Glu485Lys	rs41287110	missense variant	-	NC_000005.10:g.150129883C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu485Lys	RCV000547910	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150129883C>T	ClinVar
PDGFRB	P09619	p.Glu486Asp	rs764129390	missense variant	-	NC_000005.10:g.150129878C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu488Lys	rs760629984	missense variant	-	NC_000005.10:g.150129874C>T	ExAC,gnomAD
PDGFRB	P09619	p.Glu490Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150129868C>T	NCI-TCGA
PDGFRB	P09619	p.Val491Ala	RCV000650691	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150129864A>G	ClinVar
PDGFRB	P09619	p.Val491Ala	rs540480924	missense variant	-	NC_000005.10:g.150129864A>G	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg496His	rs773284031	missense variant	-	NC_000005.10:g.150129849C>T	ExAC,gnomAD
PDGFRB	P09619	p.Arg496Cys	rs1225116257	missense variant	-	NC_000005.10:g.150129850G>A	gnomAD
PDGFRB	P09619	p.Gln498Ter	rs770252245	stop gained	-	NC_000005.10:g.150129844G>A	ExAC,gnomAD
PDGFRB	P09619	p.Val500Met	rs776914915	missense variant	-	NC_000005.10:g.150129838C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asp501Tyr	rs1311234574	missense variant	-	NC_000005.10:g.150129835C>A	gnomAD
PDGFRB	P09619	p.Arg502Gln	RCV000526323	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150129831C>T	ClinVar
PDGFRB	P09619	p.Arg502Gln	rs148974733	missense variant	-	NC_000005.10:g.150129831C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg502Trp	rs142992960	missense variant	-	NC_000005.10:g.150129832G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser505Leu	rs367611195	missense variant	-	NC_000005.10:g.150129822G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val506Ala	rs79387608	missense variant	-	NC_000005.10:g.150129819A>G	ExAC,gnomAD
PDGFRB	P09619	p.Val506Gly	rs79387608	missense variant	-	NC_000005.10:g.150129819A>C	ExAC,gnomAD
PDGFRB	P09619	p.Val506Glu	rs79387608	missense variant	-	NC_000005.10:g.150129819A>T	ExAC,gnomAD
PDGFRB	P09619	p.Arg507His	rs145823245	missense variant	-	NC_000005.10:g.150129816C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg507Cys	rs756150324	missense variant	-	NC_000005.10:g.150129817G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr509Met	rs766614995	missense variant	-	NC_000005.10:g.150129810G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg511Cys	rs765383598	missense variant	-	NC_000005.10:g.150129805G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg511His	rs1232469262	missense variant	-	NC_000005.10:g.150129804C>T	gnomAD
PDGFRB	P09619	p.Asn512Ser	rs762039865	missense variant	-	NC_000005.10:g.150129801T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala513Pro	rs768971476	missense variant	-	NC_000005.10:g.150129799C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala513Thr	rs768971476	missense variant	-	NC_000005.10:g.150129799C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr518Ala	rs1328302013	missense variant	-	NC_000005.10:g.150129784T>C	gnomAD
PDGFRB	P09619	p.Thr518Met	rs753978428	missense variant	-	NC_000005.10:g.150129783G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val523Met	rs374412074	missense variant	-	NC_000005.10:g.150129769C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.His526Tyr	rs1180371553	missense variant	-	NC_000005.10:g.150129760G>A	gnomAD
PDGFRB	P09619	p.Ser527Pro	rs1475343244	missense variant	-	NC_000005.10:g.150129757A>G	gnomAD
PDGFRB	P09619	p.Pro529Thr	rs1369433730	missense variant	-	NC_000005.10:g.150126609G>T	gnomAD
PDGFRB	P09619	p.Phe530Val	rs1348611914	missense variant	-	NC_000005.10:g.150126606A>C	gnomAD
PDGFRB	P09619	p.Leu539Arg	RCV000454368	insertion	Infantile myofibromatosis (IMF)	NC_000005.10:g.150126578_150126579insATC	ClinVar
PDGFRB	P09619	p.Ala540Val	COSM462038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150126575G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Ala540Gly	rs1315828107	missense variant	-	NC_000005.10:g.150126575G>C	gnomAD
PDGFRB	P09619	p.Thr545Ile	rs1191693413	missense variant	-	NC_000005.10:g.150126560G>A	TOPMed,gnomAD
PDGFRB	P09619	p.Thr545Ala	rs1396830134	missense variant	-	NC_000005.10:g.150126561T>C	gnomAD
PDGFRB	P09619	p.Ile546Val	rs373049018	missense variant	-	NC_000005.10:g.150126558T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ile547Val	rs753022858	missense variant	-	NC_000005.10:g.150126555T>C	ExAC,gnomAD
PDGFRB	P09619	p.Leu552Phe	rs576771944	missense variant	-	NC_000005.10:g.150126540G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu552Ile	rs576771944	missense variant	-	NC_000005.10:g.150126540G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Met554Val	rs1210272407	missense variant	-	NC_000005.10:g.150126534T>C	gnomAD
PDGFRB	P09619	p.Leu555Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150126531G>T	NCI-TCGA
PDGFRB	P09619	p.Leu555Val	rs774899102	missense variant	-	NC_000005.10:g.150126531G>C	ExAC,gnomAD
PDGFRB	P09619	p.Leu555Pro	rs1306356528	missense variant	-	NC_000005.10:g.150126530A>G	gnomAD
PDGFRB	P09619	p.Lys558Glu	rs1220282832	missense variant	-	NC_000005.10:g.150126522T>C	gnomAD
PDGFRB	P09619	p.Lys559Glu	rs1356869976	missense variant	-	NC_000005.10:g.150125577T>C	gnomAD
PDGFRB	P09619	p.Arg561His	rs1375143929	missense variant	-	NC_000005.10:g.150125570C>T	TOPMed
PDGFRB	P09619	p.Arg561Cys	rs367543286	missense variant	-	NC_000005.10:g.150125571G>A	-
PDGFRB	P09619	p.Arg561Cys	rs367543286	missense variant	Myofibromatosis, infantile 1 (IMF1)	NC_000005.10:g.150125571G>A	UniProt,dbSNP
PDGFRB	P09619	p.Arg561Cys	VAR_069925	missense variant	Myofibromatosis, infantile 1 (IMF1)	NC_000005.10:g.150125571G>A	UniProt
PDGFRB	P09619	p.Arg561Cys	RCV000390507	missense variant	-	NC_000005.10:g.150125571G>A	ClinVar
PDGFRB	P09619	p.Arg561Cys	RCV000454370	missense variant	Infantile myofibromatosis (IMF)	NC_000005.10:g.150125571G>A	ClinVar
PDGFRB	P09619	p.Arg561Cys	RCV000049264	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150125571G>A	ClinVar
PDGFRB	P09619	p.Glu563Lys	rs1483057981	missense variant	-	NC_000005.10:g.150125565C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Arg565Ter	rs1460983846	stop gained	-	NC_000005.10:g.150125559G>A	gnomAD
PDGFRB	P09619	p.Arg565Gln	rs140081345	missense variant	-	NC_000005.10:g.150125558C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Trp566Arg	rs1060499542	missense variant	-	NC_000005.10:g.150125556A>G	-
PDGFRB	P09619	p.Trp566Arg	RCV000622279	missense variant	Inborn genetic diseases	NC_000005.10:g.150125556A>G	ClinVar
PDGFRB	P09619	p.Lys567Glu	rs1554108389	missense variant	-	NC_000005.10:g.150125553T>C	-
PDGFRB	P09619	p.Lys567Glu	RCV000498591	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150125553T>C	ClinVar
PDGFRB	P09619	p.Glu570Ala	COSM3852736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150125543T>G	NCI-TCGA Cosmic
PDGFRB	P09619	p.Ile580Val	rs376202121	missense variant	-	NC_000005.10:g.150125514T>C	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Tyr581Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150125510T>C	NCI-TCGA
PDGFRB	P09619	p.Val582Met	rs1296812685	missense variant	-	NC_000005.10:g.150125508C>T	TOPMed
PDGFRB	P09619	p.Pro584Arg	rs863224946	missense variant	-	NC_000005.10:g.150125501G>C	-
PDGFRB	P09619	p.Pro584Arg	RCV000200957	missense variant	Kosaki overgrowth syndrome (KOGS)	NC_000005.10:g.150125501G>C	ClinVar
PDGFRB	P09619	p.Met585Ile	rs768416368	missense variant	-	NC_000005.10:g.150125497C>T	ExAC,gnomAD
PDGFRB	P09619	p.Met585Thr	rs1258478109	missense variant	-	NC_000005.10:g.150125498A>G	gnomAD
PDGFRB	P09619	p.Gln586His	rs1339375799	missense variant	-	NC_000005.10:g.150125494C>A	TOPMed
PDGFRB	P09619	p.Pro588Ser	rs1231735690	missense variant	-	NC_000005.10:g.150125490G>A	gnomAD
PDGFRB	P09619	p.Tyr589His	VAR_042029	Missense	-	-	UniProt
PDGFRB	P09619	p.Asp590Asn	rs1323185629	missense variant	-	NC_000005.10:g.150125484C>T	gnomAD
PDGFRB	P09619	p.Thr592Met	rs771835513	missense variant	-	NC_000005.10:g.150125477G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr592Lys	rs771835513	missense variant	-	NC_000005.10:g.150125477G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Trp593Ter	rs1231790209	stop gained	-	NC_000005.10:g.150125473C>T	gnomAD
PDGFRB	P09619	p.Trp593Arg	rs770027941	missense variant	-	NC_000005.10:g.150125475A>G	ExAC,gnomAD
PDGFRB	P09619	p.Glu594Gly	COSM1310844	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150125471T>C	NCI-TCGA Cosmic
PDGFRB	P09619	p.Pro596Leu	rs748119964	missense variant	-	NC_000005.10:g.150125465G>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg597Gln	rs1222946958	missense variant	-	NC_000005.10:g.150125462C>T	gnomAD
PDGFRB	P09619	p.Arg597Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150125462C>A	NCI-TCGA
PDGFRB	P09619	p.Asp598Asn	rs1370532697	missense variant	-	NC_000005.10:g.150125460C>T	gnomAD
PDGFRB	P09619	p.Gln599His	rs1299853847	missense variant	-	NC_000005.10:g.150125455C>A	gnomAD
PDGFRB	P09619	p.Gly603Arg	rs1462762018	missense variant	-	NC_000005.10:g.150125445C>T	gnomAD
PDGFRB	P09619	p.Arg604Gly	rs541926152	missense variant	-	NC_000005.10:g.150124829G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg604His	rs752228799	missense variant	-	NC_000005.10:g.150124828C>T	ExAC,gnomAD
PDGFRB	P09619	p.Arg604Cys	rs541926152	missense variant	-	NC_000005.10:g.150124829G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr605Ile	rs767386222	missense variant	-	NC_000005.10:g.150124825G>A	ExAC,gnomAD
PDGFRB	P09619	p.Thr605Asn	rs767386222	missense variant	-	NC_000005.10:g.150124825G>T	ExAC,gnomAD
PDGFRB	P09619	p.Ser608Tyr	rs1420457092	missense variant	-	NC_000005.10:g.150124816G>T	gnomAD
PDGFRB	P09619	p.Gln613Arg	rs762706138	missense variant	-	NC_000005.10:g.150124801T>C	ExAC,gnomAD
PDGFRB	P09619	p.Glu616Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150124793C>G	NCI-TCGA
PDGFRB	P09619	p.Thr618Met	rs139554380	missense variant	-	NC_000005.10:g.150124786G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr618Arg	rs139554380	missense variant	-	NC_000005.10:g.150124786G>C	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr618Ala	rs1378675204	missense variant	-	NC_000005.10:g.150124787T>C	gnomAD
PDGFRB	P09619	p.Ala619Val	rs1220258280	missense variant	-	NC_000005.10:g.150124783G>A	TOPMed
PDGFRB	P09619	p.His620Tyr	rs1244596547	missense variant	-	NC_000005.10:g.150124781G>A	TOPMed
PDGFRB	P09619	p.His620Leu	COSM3410001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150124780T>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Ala627Val	rs1201625387	missense variant	-	NC_000005.10:g.150124759G>A	gnomAD
PDGFRB	P09619	p.Ala627Thr	rs779617771	missense variant	-	NC_000005.10:g.150124760C>T	ExAC,gnomAD
PDGFRB	P09619	p.Thr628Met	rs1250625415	missense variant	-	NC_000005.10:g.150124756G>A	TOPMed,gnomAD
PDGFRB	P09619	p.Met629Arg	rs1342136227	missense variant	-	NC_000005.10:g.150124753A>C	gnomAD
PDGFRB	P09619	p.Val631Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150124748C>T	NCI-TCGA
PDGFRB	P09619	p.Ala632Val	rs1280379086	missense variant	-	NC_000005.10:g.150124744G>A	gnomAD
PDGFRB	P09619	p.Val633Ile	rs780819031	missense variant	-	NC_000005.10:g.150124742C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser638Cys	rs756569804	missense variant	-	NC_000005.10:g.150124360G>C	ExAC,gnomAD
PDGFRB	P09619	p.Arg641Cys	rs201183721	missense variant	-	NC_000005.10:g.150124352G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg641His	rs56339845	missense variant	-	NC_000005.10:g.150124351C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser642Asn	COSM1435158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150124348C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Ser642Gly	rs1231480262	missense variant	-	NC_000005.10:g.150124349T>C	TOPMed
PDGFRB	P09619	p.Glu644Lys	rs1472863128	missense variant	-	NC_000005.10:g.150124343C>T	gnomAD
PDGFRB	P09619	p.Lys645Arg	rs1362685432	missense variant	-	NC_000005.10:g.150124339T>C	gnomAD
PDGFRB	P09619	p.Ala647Thr	rs766289548	missense variant	-	NC_000005.10:g.150124334C>T	ExAC,gnomAD
PDGFRB	P09619	p.Leu648Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150124331G>A	NCI-TCGA
PDGFRB	P09619	p.Ser650Leu	rs758280032	missense variant	-	NC_000005.10:g.150124324G>A	ExAC,gnomAD
PDGFRB	P09619	p.Ser650Ter	rs758280032	stop gained	-	NC_000005.10:g.150124324G>T	ExAC,gnomAD
PDGFRB	P09619	p.Lys653Arg	rs148655406	missense variant	-	NC_000005.10:g.150124315T>C	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Met655Val	rs1357207675	missense variant	-	NC_000005.10:g.150124310T>C	TOPMed,gnomAD
PDGFRB	P09619	p.Met655Leu	rs1357207675	missense variant	-	NC_000005.10:g.150124310T>G	TOPMed,gnomAD
PDGFRB	P09619	p.Ser656Gly	rs1279062746	missense variant	-	NC_000005.10:g.150124307T>C	gnomAD
PDGFRB	P09619	p.Ser656Asn	rs1238005056	missense variant	-	NC_000005.10:g.150124306C>T	gnomAD
PDGFRB	P09619	p.Ser656Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150124305A>T	NCI-TCGA
PDGFRB	P09619	p.Leu658Pro	rs397509381	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150124300A>G	UniProt,dbSNP
PDGFRB	P09619	p.Leu658Pro	VAR_069320	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150124300A>G	UniProt
PDGFRB	P09619	p.Leu658Pro	rs397509381	missense variant	-	NC_000005.10:g.150124300A>G	-
PDGFRB	P09619	p.Leu658Phe	rs767886107	missense variant	-	NC_000005.10:g.150124301G>A	ExAC,gnomAD
PDGFRB	P09619	p.Leu658Pro	RCV000032788	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150124300A>G	ClinVar
PDGFRB	P09619	p.Pro660Thr	rs144050370	missense variant	-	NC_000005.10:g.150124295G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro660Thr	RCV000049265	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150124295G>T	ClinVar
PDGFRB	P09619	p.Leu662Val	rs763366149	missense variant	-	NC_000005.10:g.150124289G>C	ExAC,gnomAD
PDGFRB	P09619	p.Val664Leu	rs770122404	missense variant	-	NC_000005.10:g.150124283C>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val664Leu	rs770122404	missense variant	-	NC_000005.10:g.150124283C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val664Met	rs770122404	missense variant	-	NC_000005.10:g.150124283C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val665Ala	rs1554108211	missense variant	-	NC_000005.10:g.150124279A>G	-
PDGFRB	P09619	p.Val665Ala	rs1554108211	missense variant	Premature aging syndrome, Penttinen type (PENTT)	NC_000005.10:g.150124279A>G	UniProt,dbSNP
PDGFRB	P09619	p.Val665Ala	VAR_075866	missense variant	Premature aging syndrome, Penttinen type (PENTT)	NC_000005.10:g.150124279A>G	UniProt
PDGFRB	P09619	p.Val665Ala	RCV000585893	missense variant	Premature aging syndrome, Penttinen type (PENTT)	NC_000005.10:g.150124279A>G	ClinVar
PDGFRB	P09619	p.Asn666His	rs797044887	missense variant	-	NC_000005.10:g.150124277T>G	-
PDGFRB	P09619	p.Asn666Lys	rs864309711	missense variant	-	NC_000005.10:g.150124275G>C	-
PDGFRB	P09619	p.Asn666Lys	RCV000203292	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150124275G>T	ClinVar
PDGFRB	P09619	p.Asn666Lys	RCV000454372	missense variant	Infantile myofibromatosis (IMF)	NC_000005.10:g.150124275G>C	ClinVar
PDGFRB	P09619	p.Asn666His	RCV000190709	missense variant	Inborn genetic diseases	NC_000005.10:g.150124277T>G	ClinVar
PDGFRB	P09619	p.Asn666Lys	rs864309711	missense variant	-	NC_000005.10:g.150124275G>T	-
PDGFRB	P09619	p.Leu667Met	COSM3723008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150124274G>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Leu668Met	rs768318526	missense variant	-	NC_000005.10:g.150124271A>T	ExAC,gnomAD
PDGFRB	P09619	p.Cys671Tyr	COSM737243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150124261C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Thr672Ile	rs1248220427	missense variant	-	NC_000005.10:g.150124258G>A	gnomAD
PDGFRB	P09619	p.Lys673Arg	rs1221972730	missense variant	-	NC_000005.10:g.150124255T>C	gnomAD
PDGFRB	P09619	p.Gly674Glu	rs1389426768	missense variant	-	NC_000005.10:g.150124252C>T	TOPMed
PDGFRB	P09619	p.Gly674Arg	rs779431081	missense variant	-	NC_000005.10:g.150124253C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly675Arg	rs1283745894	missense variant	-	NC_000005.10:g.150124250C>T	gnomAD
PDGFRB	P09619	p.Gly675Glu	rs1176688330	missense variant	-	NC_000005.10:g.150123201C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Tyr678Ter	rs1409226944	stop gained	-	NC_000005.10:g.150123191A>C	gnomAD
PDGFRB	P09619	p.Arg685His	rs200986052	missense variant	-	NC_000005.10:g.150123171C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg685Cys	rs763239423	missense variant	-	NC_000005.10:g.150123172G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Tyr686Cys	rs757278048	missense variant	-	NC_000005.10:g.150123168T>C	ExAC,gnomAD
PDGFRB	P09619	p.Gly687Glu	COSM5918789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150123165C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Gly687Arg	rs777708927	missense variant	-	NC_000005.10:g.150123166C>G	ExAC,gnomAD
PDGFRB	P09619	p.Gly687Arg	rs777708927	missense variant	-	NC_000005.10:g.150123166C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asp688Gly	rs756032678	missense variant	-	NC_000005.10:g.150123162T>C	ExAC,gnomAD
PDGFRB	P09619	p.Asp688Asn	rs1249635203	missense variant	-	NC_000005.10:g.150123163C>T	gnomAD
PDGFRB	P09619	p.Asp691Asn	rs766665377	missense variant	-	NC_000005.10:g.150123154C>T	ExAC,gnomAD
PDGFRB	P09619	p.His694Arg	rs765673602	missense variant	-	NC_000005.10:g.150123144T>C	ExAC,gnomAD
PDGFRB	P09619	p.His694Tyr	rs750537901	missense variant	-	NC_000005.10:g.150123145G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg695Ser	rs138008832	missense variant	-	NC_000005.10:g.150123142G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg695Pro	rs375978065	missense variant	-	NC_000005.10:g.150123141C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg695His	rs375978065	missense variant	-	NC_000005.10:g.150123141C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg695Cys	RCV000128554	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150123142G>A	ClinVar
PDGFRB	P09619	p.Arg695Cys	rs138008832	missense variant	-	NC_000005.10:g.150123142G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.His698Gln	rs1212152922	missense variant	-	NC_000005.10:g.150123131G>T	gnomAD
PDGFRB	P09619	p.His698Gln	rs1212152922	missense variant	-	NC_000005.10:g.150123131G>C	gnomAD
PDGFRB	P09619	p.Thr699Ile	rs1465893615	missense variant	-	NC_000005.10:g.150123129G>A	gnomAD
PDGFRB	P09619	p.Thr699Ala	rs200834112	missense variant	-	NC_000005.10:g.150123130T>C	1000Genomes
PDGFRB	P09619	p.Gln702Lys	rs745312913	missense variant	-	NC_000005.10:g.150123121G>T	ExAC,gnomAD
PDGFRB	P09619	p.Ser705Pro	rs112292721	missense variant	-	NC_000005.10:g.150123112A>G	gnomAD
PDGFRB	P09619	p.Asp706Asn	rs770635073	missense variant	-	NC_000005.10:g.150123109C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg708His	rs200519248	missense variant	-	NC_000005.10:g.150123102C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg708Cys	rs749226501	missense variant	-	NC_000005.10:g.150123103G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg708Leu	COSM737245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150123102C>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Arg709Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150123099C>A	NCI-TCGA
PDGFRB	P09619	p.Arg709His	rs759436020	missense variant	-	NC_000005.10:g.150123099C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg709His	RCV000174877	missense variant	-	NC_000005.10:g.150123099C>T	ClinVar
PDGFRB	P09619	p.Pro710Leu	rs554645092	missense variant	-	NC_000005.10:g.150123096G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro711His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150123093G>T	NCI-TCGA
PDGFRB	P09619	p.Pro711Leu	rs765295196	missense variant	-	NC_000005.10:g.150123093G>A	ExAC,gnomAD
PDGFRB	P09619	p.Ala713Thr	rs371341863	missense variant	-	NC_000005.10:g.150123088C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala713Val	rs368867827	missense variant	-	NC_000005.10:g.150123087G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala713Thr	RCV000238828	missense variant	-	NC_000005.10:g.150123088C>T	ClinVar
PDGFRB	P09619	p.Ser717Asn	rs760905425	missense variant	-	NC_000005.10:g.150123075C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asn718Tyr	rs35322465	missense variant	-	NC_000005.10:g.150123073T>A	UniProt,dbSNP
PDGFRB	P09619	p.Asn718Tyr	VAR_042030	missense variant	-	NC_000005.10:g.150123073T>A	UniProt
PDGFRB	P09619	p.Asn718Tyr	rs35322465	missense variant	-	NC_000005.10:g.150123073T>A	-
PDGFRB	P09619	p.Asn718Ser	rs775940331	missense variant	-	NC_000005.10:g.150123072T>C	ExAC,gnomAD
PDGFRB	P09619	p.Ala719Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150123070C>G	NCI-TCGA
PDGFRB	P09619	p.Ala719Val	COSM737246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150123069G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Val722Phe	rs142689325	missense variant	-	NC_000005.10:g.150123061C>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val722Ile	rs142689325	missense variant	-	NC_000005.10:g.150123061C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro725Leu	COSM4477677	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150123051G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Leu726Val	rs773244332	missense variant	-	NC_000005.10:g.150123049G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro727His	rs1303620698	missense variant	-	NC_000005.10:g.150123045G>T	TOPMed
PDGFRB	P09619	p.Ser728Cys	rs1379063670	missense variant	-	NC_000005.10:g.150123043T>A	gnomAD
PDGFRB	P09619	p.His729Leu	rs958226923	missense variant	-	NC_000005.10:g.150122038T>A	TOPMed
PDGFRB	P09619	p.Leu732Trp	rs141793092	missense variant	-	NC_000005.10:g.150122029A>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly734Arg	rs762504902	missense variant	-	NC_000005.10:g.150122024C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly734Glu	rs772861468	missense variant	-	NC_000005.10:g.150122023C>T	ExAC,gnomAD
PDGFRB	P09619	p.Gly734Trp	COSM6102835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150122024C>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Ser736Ile	rs1319346549	missense variant	-	NC_000005.10:g.150122017C>A	TOPMed
PDGFRB	P09619	p.Ser736Arg	rs776488990	missense variant	-	NC_000005.10:g.150122016G>T	ExAC,gnomAD
PDGFRB	P09619	p.Asp737Asn	rs768472954	missense variant	-	NC_000005.10:g.150122015C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly738Ser	rs150474738	missense variant	-	NC_000005.10:g.150122012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Met741Thr	rs1171332049	missense variant	-	NC_000005.10:g.150122002A>G	TOPMed,gnomAD
PDGFRB	P09619	p.Met741Val	rs749301959	missense variant	-	NC_000005.10:g.150122003T>C	ExAC,gnomAD
PDGFRB	P09619	p.Met743Ile	rs1467934103	missense variant	-	NC_000005.10:g.150121995C>T	gnomAD
PDGFRB	P09619	p.Glu747Lys	rs756210461	missense variant	-	NC_000005.10:g.150121985C>T	ExAC,gnomAD
PDGFRB	P09619	p.Ser748Leu	rs537725629	missense variant	-	NC_000005.10:g.150121981G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val749Glu	rs751996384	missense variant	-	NC_000005.10:g.150121978A>T	ExAC,gnomAD
PDGFRB	P09619	p.Val749Met	rs755353819	missense variant	-	NC_000005.10:g.150121979C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asp750Gly	rs766073277	missense variant	-	NC_000005.10:g.150121975T>C	ExAC,gnomAD
PDGFRB	P09619	p.Tyr751Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150121972T>A	NCI-TCGA
PDGFRB	P09619	p.Tyr751His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150121973A>G	NCI-TCGA
PDGFRB	P09619	p.Tyr751Cys	rs762698498	missense variant	-	NC_000005.10:g.150121972T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Met754CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150121965G>-	NCI-TCGA
PDGFRB	P09619	p.Leu755Gln	rs939822838	missense variant	-	NC_000005.10:g.150121960A>T	TOPMed
PDGFRB	P09619	p.Met757Val	rs933723345	missense variant	-	NC_000005.10:g.150121955T>C	TOPMed
PDGFRB	P09619	p.Met757Arg	rs922382503	missense variant	-	NC_000005.10:g.150121954A>C	TOPMed
PDGFRB	P09619	p.Met757Val	RCV000520916	missense variant	-	NC_000005.10:g.150121955T>C	ClinVar
PDGFRB	P09619	p.Gly759Glu	rs761275855	missense variant	-	NC_000005.10:g.150121948C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asp760Asn	rs1316309140	missense variant	-	NC_000005.10:g.150121946C>T	gnomAD
PDGFRB	P09619	p.Asp760Ala	rs1467726205	missense variant	-	NC_000005.10:g.150121945T>G	TOPMed
PDGFRB	P09619	p.Val761Ile	rs747659448	missense variant	-	NC_000005.10:g.150121943C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala764Gly	rs760410463	missense variant	-	NC_000005.10:g.150121933G>C	ExAC,gnomAD
PDGFRB	P09619	p.Glu767Lys	rs771923448	missense variant	-	NC_000005.10:g.150121925C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asn770Lys	rs769886643	missense variant	-	NC_000005.10:g.150121914G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala773Val	rs200197608	missense variant	-	NC_000005.10:g.150121906G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ala773Asp	rs200197608	missense variant	-	NC_000005.10:g.150121906G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asp776Asn	rs751904503	missense variant	-	NC_000005.10:g.150121898C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Tyr778Cys	rs1424362830	missense variant	-	NC_000005.10:g.150121891T>C	gnomAD
PDGFRB	P09619	p.Val779Ile	rs758890727	missense variant	-	NC_000005.10:g.150121889C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro780Thr	rs750066915	missense variant	-	NC_000005.10:g.150121886G>T	ExAC,gnomAD
PDGFRB	P09619	p.Pro783Thr	rs1359322474	missense variant	-	NC_000005.10:g.150121320G>T	gnomAD
PDGFRB	P09619	p.Thr786Ala	rs759326287	missense variant	-	NC_000005.10:g.150121311T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg788Gln	rs774032065	missense variant	-	NC_000005.10:g.150121304C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg788Ter	rs1320275282	stop gained	-	NC_000005.10:g.150121305G>A	TOPMed,gnomAD
PDGFRB	P09619	p.Arg788Ter	RCV000624900	nonsense	Inborn genetic diseases	NC_000005.10:g.150121305G>A	ClinVar
PDGFRB	P09619	p.Ala789Val	rs1476912372	missense variant	-	NC_000005.10:g.150121301G>A	gnomAD
PDGFRB	P09619	p.Ala789Ser	rs190620156	missense variant	-	NC_000005.10:g.150121302C>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asn793Ser	rs768833854	missense variant	-	NC_000005.10:g.150121289T>C	ExAC,gnomAD
PDGFRB	P09619	p.Glu794Lys	rs765478860	missense variant	-	NC_000005.10:g.150121287C>T	ExAC,gnomAD
PDGFRB	P09619	p.Ser795Phe	rs1285503815	missense variant	-	NC_000005.10:g.150121283G>A	gnomAD
PDGFRB	P09619	p.Pro796Leu	rs746183352	missense variant	-	NC_000005.10:g.150121280G>A	ExAC,gnomAD
PDGFRB	P09619	p.Pro796Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150121281G>A	NCI-TCGA
PDGFRB	P09619	p.Pro796Arg	rs746183352	missense variant	-	NC_000005.10:g.150121280G>C	ExAC,gnomAD
PDGFRB	P09619	p.Val797Leu	rs757702025	missense variant	-	NC_000005.10:g.150121278C>A	ExAC,gnomAD
PDGFRB	P09619	p.Ser799Arg	rs1284973433	missense variant	-	NC_000005.10:g.150121270G>T	TOPMed
PDGFRB	P09619	p.Met801Val	rs1339400864	missense variant	-	NC_000005.10:g.150121266T>C	gnomAD
PDGFRB	P09619	p.Met801Ile	rs748872294	missense variant	-	NC_000005.10:g.150121264C>T	ExAC,gnomAD
PDGFRB	P09619	p.Val804Met	rs755585100	missense variant	-	NC_000005.10:g.150121257C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly805Ser	COSM3373748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150121254C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Val810Ala	rs554704450	missense variant	-	NC_000005.10:g.150121238A>G	ExAC,gnomAD
PDGFRB	P09619	p.Val810Met	COSM3919350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150121239C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Ala811Ser	rs781051087	missense variant	-	NC_000005.10:g.150121236C>A	ExAC,gnomAD
PDGFRB	P09619	p.Ala811Pro	rs781051087	missense variant	-	NC_000005.10:g.150121236C>G	ExAC,gnomAD
PDGFRB	P09619	p.Ala811Thr	COSM1064295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150121236C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Gly813Asp	rs1480906257	missense variant	-	NC_000005.10:g.150121229C>T	gnomAD
PDGFRB	P09619	p.Met814Thr	rs1262390516	missense variant	-	NC_000005.10:g.150121226A>G	TOPMed
PDGFRB	P09619	p.Asn821Lys	rs78336563	missense variant	-	NC_000005.10:g.150121204G>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val823Ile	rs377442091	missense variant	-	NC_000005.10:g.150121007C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu827Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120995G>C	NCI-TCGA
PDGFRB	P09619	p.Ala829Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120989C>T	NCI-TCGA
PDGFRB	P09619	p.Val832Met	rs753032652	missense variant	-	NC_000005.10:g.150120980C>T	ExAC,gnomAD
PDGFRB	P09619	p.Glu836Gly	rs774685011	missense variant	-	NC_000005.10:g.150120967T>C	ExAC,gnomAD
PDGFRB	P09619	p.Glu836Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120968C>T	NCI-TCGA
PDGFRB	P09619	p.Gly837Asp	rs1197406325	missense variant	-	NC_000005.10:g.150120964C>T	TOPMed
PDGFRB	P09619	p.Gly837Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120965C>A	NCI-TCGA
PDGFRB	P09619	p.Val840Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120955A>T	NCI-TCGA
PDGFRB	P09619	p.Val840Ile	rs200077894	missense variant	-	NC_000005.10:g.150120956C>T	1000Genomes
PDGFRB	P09619	p.Cys843Tyr	rs770212293	missense variant	-	NC_000005.10:g.150120946C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg849Gly	rs1184721015	missense variant	-	NC_000005.10:g.150120929G>C	TOPMed,gnomAD
PDGFRB	P09619	p.Arg849Ter	COSM1064293	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.150120929G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Arg849Gln	rs770930584	missense variant	-	NC_000005.10:g.150120928C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asp850Val	rs1060499540	missense variant	-	NC_000005.10:g.150120925T>A	gnomAD
PDGFRB	P09619	p.Asp850Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120926C>A	NCI-TCGA
PDGFRB	P09619	p.Asp850Gly	rs1060499540	missense variant	-	NC_000005.10:g.150120925T>C	gnomAD
PDGFRB	P09619	p.Asp850Val	RCV000454369	missense variant	Infantile myofibromatosis (IMF)	NC_000005.10:g.150120925T>A	ClinVar
PDGFRB	P09619	p.Ile851Met	rs570277745	missense variant	-	NC_000005.10:g.150120921G>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ile851Val	rs746559329	missense variant	-	NC_000005.10:g.150120923T>C	ExAC,gnomAD
PDGFRB	P09619	p.Arg853Gln	rs1218819598	missense variant	-	NC_000005.10:g.150120916C>T	gnomAD
PDGFRB	P09619	p.Arg853Trp	rs778844346	missense variant	-	NC_000005.10:g.150120917G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser855Thr	rs1360972085	missense variant	-	NC_000005.10:g.150120911A>T	gnomAD
PDGFRB	P09619	p.Ser855Leu	rs1292468244	missense variant	-	NC_000005.10:g.150120910G>A	gnomAD
PDGFRB	P09619	p.Tyr857Phe	rs1168573597	missense variant	-	NC_000005.10:g.150120904T>A	TOPMed
PDGFRB	P09619	p.Ile858Met	rs1462633071	missense variant	-	NC_000005.10:g.150120900G>C	TOPMed
PDGFRB	P09619	p.Thr863Asn	rs750896639	missense variant	-	NC_000005.10:g.150120122G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro866Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120114G>A	NCI-TCGA
PDGFRB	P09619	p.Lys868Asn	rs1159721959	missense variant	-	NC_000005.10:g.150120106C>A	TOPMed
PDGFRB	P09619	p.Ala871Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120099C>T	NCI-TCGA
PDGFRB	P09619	p.Ser874Asn	rs777067417	missense variant	-	NC_000005.10:g.150120089C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asn877Thr	rs78642472	missense variant	-	NC_000005.10:g.150120080T>G	ExAC,gnomAD
PDGFRB	P09619	p.Asn877Lys	rs760367935	missense variant	-	NC_000005.10:g.150120079G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu879Ile	rs771679639	missense variant	-	NC_000005.10:g.150120075G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Tyr880Cys	rs1371954207	missense variant	-	NC_000005.10:g.150120071T>C	TOPMed
PDGFRB	P09619	p.Thr882Ser	rs1333821635	missense variant	-	NC_000005.10:g.150120065G>C	TOPMed
PDGFRB	P09619	p.Thr882Ile	VAR_042031	Missense	-	-	UniProt
PDGFRB	P09619	p.Asp885Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120057C>T	NCI-TCGA
PDGFRB	P09619	p.Val886Met	rs1301469558	missense variant	-	NC_000005.10:g.150120054C>T	gnomAD
PDGFRB	P09619	p.Phe889Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150120045A>G	NCI-TCGA
PDGFRB	P09619	p.Gly890Glu	COSM3612468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150120041C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Thr902Asn	rs200865355	missense variant	-	NC_000005.10:g.150119560G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr902Ile	rs200865355	missense variant	-	NC_000005.10:g.150119560G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr902Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150119560G>C	NCI-TCGA
PDGFRB	P09619	p.Thr902Ile	RCV000480759	missense variant	-	NC_000005.10:g.150119560G>A	ClinVar
PDGFRB	P09619	p.Pro903Leu	rs780199485	missense variant	-	NC_000005.10:g.150119557G>A	ExAC,gnomAD
PDGFRB	P09619	p.Pro905Ala	rs913577228	missense variant	-	NC_000005.10:g.150119552G>C	TOPMed,gnomAD
PDGFRB	P09619	p.Pro905Leu	rs1456958325	missense variant	-	NC_000005.10:g.150119551G>A	TOPMed,gnomAD
PDGFRB	P09619	p.Glu906Gln	rs372042979	missense variant	-	NC_000005.10:g.150119549C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu911Lys	rs778955311	missense variant	-	NC_000005.10:g.150119534C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Tyr914Cys	rs1436303129	missense variant	-	NC_000005.10:g.150119524T>C	gnomAD
PDGFRB	P09619	p.Asn915Ser	rs754345719	missense variant	-	NC_000005.10:g.150119521T>C	ExAC,gnomAD
PDGFRB	P09619	p.Arg919Trp	rs550187329	missense variant	-	NC_000005.10:g.150119510G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg919Gln	rs145717708	missense variant	-	NC_000005.10:g.150119509C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg922Cys	rs143067190	missense variant	-	NC_000005.10:g.150119501G>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg922His	rs767216776	missense variant	-	NC_000005.10:g.150119500C>T	ExAC,gnomAD
PDGFRB	P09619	p.Arg922Gly	rs143067190	missense variant	-	NC_000005.10:g.150119501G>C	ExAC,gnomAD
PDGFRB	P09619	p.Ala924Thr	COSM1064289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150119495C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.His928Arg	rs1360746335	missense variant	-	NC_000005.10:g.150119482T>C	gnomAD
PDGFRB	P09619	p.Asp931Asn	rs759258072	missense variant	-	NC_000005.10:g.150119474C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu932Lys	rs921756253	missense variant	-	NC_000005.10:g.150119471C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Met937Ile	rs751229604	missense variant	-	NC_000005.10:g.150118840C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gln938Lys	rs765981295	missense variant	-	NC_000005.10:g.150118839G>T	ExAC,gnomAD
PDGFRB	P09619	p.Cys940Tyr	rs757873895	missense variant	-	NC_000005.10:g.150118832C>T	ExAC,gnomAD
PDGFRB	P09619	p.Glu942Gln	rs1206347379	missense variant	-	NC_000005.10:g.150118827C>G	TOPMed
PDGFRB	P09619	p.Glu943Gln	rs1467703608	missense variant	-	NC_000005.10:g.150118824C>G	TOPMed
PDGFRB	P09619	p.Lys944Arg	rs765151152	missense variant	-	NC_000005.10:g.150118820T>C	ExAC,gnomAD
PDGFRB	P09619	p.Glu946Asp	rs761730723	missense variant	-	NC_000005.10:g.150118813C>G	ExAC,gnomAD
PDGFRB	P09619	p.Ile947Ser	rs1427389773	missense variant	-	NC_000005.10:g.150118811A>C	gnomAD
PDGFRB	P09619	p.Arg948Gln	rs776607612	missense variant	-	NC_000005.10:g.150118808C>T	ExAC,gnomAD
PDGFRB	P09619	p.Pro950Leu	rs1214250173	missense variant	-	NC_000005.10:g.150118802G>A	gnomAD
PDGFRB	P09619	p.Pro950Arg	rs1214250173	missense variant	-	NC_000005.10:g.150118802G>C	gnomAD
PDGFRB	P09619	p.Pro950Ser	rs1263157409	missense variant	-	NC_000005.10:g.150118803G>A	gnomAD
PDGFRB	P09619	p.Phe951SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150118801G>-	NCI-TCGA
PDGFRB	P09619	p.Phe951Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150118800A>T	NCI-TCGA
PDGFRB	P09619	p.Ser952Cys	rs376007701	missense variant	-	NC_000005.10:g.150118796G>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser952Phe	rs376007701	missense variant	-	NC_000005.10:g.150118796G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val955Ala	rs771073581	missense variant	-	NC_000005.10:g.150118787A>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu958Phe	rs1321037719	missense variant	-	NC_000005.10:g.150118779G>A	gnomAD
PDGFRB	P09619	p.Leu958Val	rs1321037719	missense variant	-	NC_000005.10:g.150118779G>C	gnomAD
PDGFRB	P09619	p.Glu959Lys	rs769978493	missense variant	-	NC_000005.10:g.150118776C>T	ExAC,gnomAD
PDGFRB	P09619	p.Arg960Ile	rs748647567	missense variant	-	NC_000005.10:g.150118772C>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg960Ser	rs781775442	missense variant	-	NC_000005.10:g.150118771T>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg960Lys	rs748647567	missense variant	-	NC_000005.10:g.150118772C>T	ExAC,gnomAD
PDGFRB	P09619	p.Leu962Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150118765C>G	NCI-TCGA
PDGFRB	P09619	p.Gly963Asp	rs1432844976	missense variant	-	NC_000005.10:g.150118763C>T	gnomAD
PDGFRB	P09619	p.Glu964Lys	rs747398617	missense variant	-	NC_000005.10:g.150118761C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Lys968Asn	COSM4985888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150118747C>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Tyr970Cys	rs150600919	missense variant	-	NC_000005.10:g.150117846T>C	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Gln971Lys	COSM1064287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117844G>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Gln972Lys	rs1411722144	missense variant	-	NC_000005.10:g.150117841G>T	TOPMed,gnomAD
PDGFRB	P09619	p.Asp974Glu	rs745486517	missense variant	-	NC_000005.10:g.150117833A>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asp974Val	rs1163477683	missense variant	-	NC_000005.10:g.150117834T>A	TOPMed,gnomAD
PDGFRB	P09619	p.Asp974Glu	rs745486517	missense variant	-	NC_000005.10:g.150117833A>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu975Gly	rs1245387231	missense variant	-	NC_000005.10:g.150117831T>C	gnomAD
PDGFRB	P09619	p.Arg979Lys	rs778666177	missense variant	-	NC_000005.10:g.150117819C>T	ExAC,gnomAD
PDGFRB	P09619	p.Ser980Arg	rs879255377	missense variant	-	NC_000005.10:g.150117817T>G	-
PDGFRB	P09619	p.Ser980Asn	RCV000699136	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150117816C>T	ClinVar
PDGFRB	P09619	p.Ser980Arg	RCV000239016	missense variant	-	NC_000005.10:g.150117817T>G	ClinVar
PDGFRB	P09619	p.His982Tyr	rs1439841248	missense variant	-	NC_000005.10:g.150117811G>A	TOPMed
PDGFRB	P09619	p.Pro983Leu	rs756715680	missense variant	-	NC_000005.10:g.150117807G>A	ExAC,gnomAD
PDGFRB	P09619	p.Ala984Val	rs1206090587	missense variant	-	NC_000005.10:g.150117804G>A	gnomAD
PDGFRB	P09619	p.Ile985Thr	rs753367645	missense variant	-	NC_000005.10:g.150117801A>G	ExAC,gnomAD
PDGFRB	P09619	p.Arg987Gln	rs35731372	missense variant	-	NC_000005.10:g.150117795C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg987Leu	rs35731372	missense variant	-	NC_000005.10:g.150117795C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg987Trp	rs397509382	missense variant	-	NC_000005.10:g.150117796G>A	ExAC,gnomAD
PDGFRB	P09619	p.Arg987Trp	rs397509382	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150117796G>A	UniProt,dbSNP
PDGFRB	P09619	p.Arg987Trp	VAR_069321	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150117796G>A	UniProt
PDGFRB	P09619	p.Arg987Trp	RCV000032789	missense variant	Basal ganglia calcification, idiopathic, 4 (IBGC4)	NC_000005.10:g.150117796G>A	ClinVar
PDGFRB	P09619	p.Gln989Lys	rs1332695360	missense variant	-	NC_000005.10:g.150117790G>T	TOPMed
PDGFRB	P09619	p.Ala990Thr	rs1361458551	missense variant	-	NC_000005.10:g.150117787C>T	gnomAD
PDGFRB	P09619	p.Ala990Asp	rs752739088	missense variant	-	NC_000005.10:g.150117786G>T	ExAC,gnomAD
PDGFRB	P09619	p.Arg991His	rs75748462	missense variant	-	NC_000005.10:g.150117783C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg991Pro	rs75748462	missense variant	-	NC_000005.10:g.150117783C>G	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg991Cys	rs140261309	missense variant	-	NC_000005.10:g.150117784G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro993Ser	rs1162964047	missense variant	-	NC_000005.10:g.150117778G>A	gnomAD
PDGFRB	P09619	p.His996Arg	rs1186041786	missense variant	-	NC_000005.10:g.150117768T>C	gnomAD
PDGFRB	P09619	p.Gly997Ser	COSM3612466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117766C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Gly997Val	rs761069531	missense variant	-	NC_000005.10:g.150117765C>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg999Gln	rs987244289	missense variant	-	NC_000005.10:g.150117759C>T	-
PDGFRB	P09619	p.Arg999Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150117759C>A	NCI-TCGA
PDGFRB	P09619	p.Arg999Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.150117760G>A	NCI-TCGA
PDGFRB	P09619	p.Ser1000Phe	rs772291902	missense variant	-	NC_000005.10:g.150117756G>A	ExAC,gnomAD
PDGFRB	P09619	p.Pro1001Ser	COSM3212050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117754G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Leu1002Arg	rs778379116	missense variant	-	NC_000005.10:g.150117750A>C	ExAC,gnomAD
PDGFRB	P09619	p.Asp1003Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150117748C>T	NCI-TCGA
PDGFRB	P09619	p.Thr1004Ile	rs770576414	missense variant	-	NC_000005.10:g.150117744G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser1005Arg	rs1267599058	missense variant	-	NC_000005.10:g.150117740G>T	gnomAD
PDGFRB	P09619	p.Ser1006Ala	rs749008500	missense variant	-	NC_000005.10:g.150117739A>C	ExAC,gnomAD
PDGFRB	P09619	p.Ser1006Phe	rs1490825378	missense variant	-	NC_000005.10:g.150117738G>A	gnomAD
PDGFRB	P09619	p.Ser1006Thr	rs749008500	missense variant	-	NC_000005.10:g.150117739A>T	ExAC,gnomAD
PDGFRB	P09619	p.Val1007Asp	rs1314883519	missense variant	-	NC_000005.10:g.150117735A>T	gnomAD
PDGFRB	P09619	p.Val1007Ile	rs142762235	missense variant	-	NC_000005.10:g.150117736C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu1008Pro	rs948119310	missense variant	-	NC_000005.10:g.150117732A>G	TOPMed,gnomAD
PDGFRB	P09619	p.Tyr1009Cys	rs148183775	missense variant	-	NC_000005.10:g.150117729T>C	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Thr1010Ala	rs754683673	missense variant	-	NC_000005.10:g.150117727T>C	ExAC,gnomAD
PDGFRB	P09619	p.Val1012Leu	rs757545741	missense variant	-	NC_000005.10:g.150117721C>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val1012Met	rs757545741	missense variant	-	NC_000005.10:g.150117721C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro1014Thr	rs1453560666	missense variant	-	NC_000005.10:g.150117715G>T	gnomAD
PDGFRB	P09619	p.Asn1015Ser	rs764243842	missense variant	-	NC_000005.10:g.150117711T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asn1015His	rs1161686582	missense variant	-	NC_000005.10:g.150117712T>G	gnomAD
PDGFRB	P09619	p.Asn1015Ile	rs764243842	missense variant	-	NC_000005.10:g.150117711T>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asn1015Asp	rs1161686582	missense variant	-	NC_000005.10:g.150117712T>C	gnomAD
PDGFRB	P09619	p.Glu1016Lys	rs201061735	missense variant	-	NC_000005.10:g.150117709C>T	1000Genomes
PDGFRB	P09619	p.Gly1017Val	rs1196732733	missense variant	-	NC_000005.10:g.150117705C>A	gnomAD
PDGFRB	P09619	p.Gly1017Cys	rs1428098106	missense variant	-	NC_000005.10:g.150117706C>A	gnomAD
PDGFRB	P09619	p.Gly1017Ser	rs1428098106	missense variant	-	NC_000005.10:g.150117706C>T	gnomAD
PDGFRB	P09619	p.Asp1018Gly	rs1269577031	missense variant	-	NC_000005.10:g.150117702T>C	gnomAD
PDGFRB	P09619	p.Asp1018Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150117701G>T	NCI-TCGA
PDGFRB	P09619	p.Asp1018Asn	rs760849296	missense variant	-	NC_000005.10:g.150117703C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asn1019Asp	rs372555492	missense variant	-	NC_000005.10:g.150117700T>C	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Asp1020Glu	rs189849168	missense variant	-	NC_000005.10:g.150117695G>C	1000Genomes,ExAC,gnomAD
PDGFRB	P09619	p.Asp1020Asn	rs909165088	missense variant	-	NC_000005.10:g.150117697C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Pro1024Leu	rs375922340	missense variant	-	NC_000005.10:g.150117684G>A	ESP,TOPMed
PDGFRB	P09619	p.Leu1025Met	rs1221806662	missense variant	-	NC_000005.10:g.150117682G>T	gnomAD
PDGFRB	P09619	p.Asp1027Asn	rs1283951256	missense variant	-	NC_000005.10:g.150117676C>T	gnomAD
PDGFRB	P09619	p.Pro1028Ser	rs1382189753	missense variant	-	NC_000005.10:g.150117673G>A	gnomAD
PDGFRB	P09619	p.Pro1030Arg	rs1383355454	missense variant	-	NC_000005.10:g.150117666G>C	gnomAD
PDGFRB	P09619	p.Pro1030His	rs1383355454	missense variant	-	NC_000005.10:g.150117666G>T	gnomAD
PDGFRB	P09619	p.Ala1033Val	COSM3919348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117657G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Glu1035Lys	rs748918501	missense variant	-	NC_000005.10:g.150117652C>T	ExAC,gnomAD
PDGFRB	P09619	p.Gly1036Ser	rs772895326	missense variant	-	NC_000005.10:g.150117649C>T	ExAC
PDGFRB	P09619	p.Leu1038Pro	rs1357545765	missense variant	-	NC_000005.10:g.150117642A>G	TOPMed
PDGFRB	P09619	p.Glu1039Gly	rs1195710331	missense variant	-	NC_000005.10:g.150117639T>C	TOPMed
PDGFRB	P09619	p.Gly1040Val	rs149417689	missense variant	-	NC_000005.10:g.150117636C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly1040Val	RCV000525984	missense variant	Infantile myofibromatosis 1 (IMF1)	NC_000005.10:g.150117636C>A	ClinVar
PDGFRB	P09619	p.Ser1041Phe	COSM3919346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150117633G>A	NCI-TCGA Cosmic
PDGFRB	P09619	p.Pro1042Ser	rs374003999	missense variant	-	NC_000005.10:g.150117631G>A	ESP,ExAC,gnomAD
PDGFRB	P09619	p.Pro1042Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150117630G>A	NCI-TCGA
PDGFRB	P09619	p.Ser1043AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150117629G>-	NCI-TCGA
PDGFRB	P09619	p.Leu1044Pro	rs1186958354	missense variant	-	NC_000005.10:g.150117624A>G	gnomAD
PDGFRB	P09619	p.Ala1045Val	rs754945283	missense variant	-	NC_000005.10:g.150117621G>A	ExAC,gnomAD
PDGFRB	P09619	p.Ala1045Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150117621G>T	NCI-TCGA
PDGFRB	P09619	p.Ala1045Thr	rs369848216	missense variant	-	NC_000005.10:g.150117622C>T	ESP,TOPMed
PDGFRB	P09619	p.Ser1046Asn	rs1262809438	missense variant	-	NC_000005.10:g.150117618C>T	TOPMed,gnomAD
PDGFRB	P09619	p.Ser1047Pro	rs752920926	missense variant	-	NC_000005.10:g.150115945A>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asn1050Ser	rs997837689	missense variant	-	NC_000005.10:g.150115935T>C	TOPMed,gnomAD
PDGFRB	P09619	p.Glu1051Lys	rs1205902689	missense variant	-	NC_000005.10:g.150115933C>T	gnomAD
PDGFRB	P09619	p.Val1052Ile	rs752022391	missense variant	-	NC_000005.10:g.150115930C>T	ExAC,gnomAD
PDGFRB	P09619	p.Asn1053Ser	rs766897807	missense variant	-	NC_000005.10:g.150115926T>C	ExAC,gnomAD
PDGFRB	P09619	p.Asn1053Thr	rs766897807	missense variant	-	NC_000005.10:g.150115926T>G	ExAC,gnomAD
PDGFRB	P09619	p.Thr1054Ser	rs900848864	missense variant	-	NC_000005.10:g.150115923G>C	TOPMed,gnomAD
PDGFRB	P09619	p.Ser1055Thr	COSM1435152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150115921A>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Ile1058Val	rs1337118827	missense variant	-	NC_000005.10:g.150115912T>C	gnomAD
PDGFRB	P09619	p.Ser1059Phe	rs888526507	missense variant	-	NC_000005.10:g.150115908G>A	TOPMed,gnomAD
PDGFRB	P09619	p.Cys1060Arg	rs750794405	missense variant	-	NC_000005.10:g.150115906A>G	ExAC
PDGFRB	P09619	p.Cys1060Phe	rs1304869438	missense variant	-	NC_000005.10:g.150115905C>A	gnomAD
PDGFRB	P09619	p.Asp1061His	rs765584733	missense variant	-	NC_000005.10:g.150115903C>G	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asp1061Asn	rs765584733	missense variant	-	NC_000005.10:g.150115903C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser1062Asn	rs761510787	missense variant	-	NC_000005.10:g.150115899C>T	ExAC,gnomAD
PDGFRB	P09619	p.Ser1062Arg	rs760292775	missense variant	-	NC_000005.10:g.150115898G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser1062Arg	rs760292775	missense variant	-	NC_000005.10:g.150115898G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro1063Thr	rs775520030	missense variant	-	NC_000005.10:g.150115897G>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro1063Ser	rs775520030	missense variant	-	NC_000005.10:g.150115897G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro1063His	rs772147572	missense variant	-	NC_000005.10:g.150115896G>T	ExAC,gnomAD
PDGFRB	P09619	p.Glu1065Asp	rs1267451911	missense variant	-	NC_000005.10:g.150115889C>A	gnomAD
PDGFRB	P09619	p.Glu1065Lys	rs1480148607	missense variant	-	NC_000005.10:g.150115891C>T	gnomAD
PDGFRB	P09619	p.Glu1069Ter	rs576668629	stop gained	-	NC_000005.10:g.150115879C>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu1069Lys	rs576668629	missense variant	-	NC_000005.10:g.150115879C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu1069Gly	rs1444854414	missense variant	-	NC_000005.10:g.150115878T>C	TOPMed
PDGFRB	P09619	p.Glu1071Lys	COSM3827399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150115873C>T	NCI-TCGA Cosmic
PDGFRB	P09619	p.Glu1071Gln	rs748372109	missense variant	-	NC_000005.10:g.150115873C>G	ExAC,gnomAD
PDGFRB	P09619	p.Glu1071Val	VAR_075395	Missense	Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007]	-	UniProt
PDGFRB	P09619	p.Glu1073Gly	rs781302526	missense variant	-	NC_000005.10:g.150115866T>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro1074Leu	rs755005245	missense variant	-	NC_000005.10:g.150115863G>A	ExAC,gnomAD
PDGFRB	P09619	p.Gln1075His	rs1002145058	missense variant	-	NC_000005.10:g.150115859C>G	TOPMed,gnomAD
PDGFRB	P09619	p.Gln1075Pro	rs1288552222	missense variant	-	NC_000005.10:g.150115860T>G	gnomAD
PDGFRB	P09619	p.Leu1076Phe	rs376730887	missense variant	-	NC_000005.10:g.150115858G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Leu1076Ile	rs376730887	missense variant	-	NC_000005.10:g.150115858G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Val1080Met	rs758904285	missense variant	-	NC_000005.10:g.150115846C>T	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu1081Lys	rs1554107047	missense variant	-	NC_000005.10:g.150115843C>T	-
PDGFRB	P09619	p.Glu1081Lys	RCV000626825	missense variant	-	NC_000005.10:g.150115843C>T	ClinVar
PDGFRB	P09619	p.Pro1082Leu	rs765611204	missense variant	-	NC_000005.10:g.150115839G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro1084Leu	rs1160163328	missense variant	-	NC_000005.10:g.150115833G>A	gnomAD
PDGFRB	P09619	p.Pro1084Ala	rs753485639	missense variant	-	NC_000005.10:g.150115834G>C	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Glu1087Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150115825C>G	NCI-TCGA
PDGFRB	P09619	p.Glu1087Lys	rs1444001836	missense variant	-	NC_000005.10:g.150115825C>T	TOPMed
PDGFRB	P09619	p.Gln1088Ter	rs1192950716	stop gained	-	NC_000005.10:g.150115822G>A	gnomAD
PDGFRB	P09619	p.Gln1088Arg	rs1478654642	missense variant	-	NC_000005.10:g.150115821T>C	gnomAD
PDGFRB	P09619	p.Pro1090Leu	rs760205038	missense variant	-	NC_000005.10:g.150115815G>A	ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser1092Ter	rs146614144	stop gained	-	NC_000005.10:g.150115809G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Ser1092Leu	rs146614144	missense variant	-	NC_000005.10:g.150115809G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Gly1093Arg	rs1393883722	missense variant	-	NC_000005.10:g.150115807C>T	TOPMed
PDGFRB	P09619	p.Cys1094Ter	rs367604639	stop gained	-	NC_000005.10:g.150115802G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Cys1094Tyr	rs571909632	missense variant	-	NC_000005.10:g.150115803C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro1095Ser	rs1405991603	missense variant	-	NC_000005.10:g.150115801G>A	TOPMed
PDGFRB	P09619	p.Ala1096Val	rs114435947	missense variant	-	NC_000005.10:g.150115797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Pro1097Ser	rs758520535	missense variant	-	NC_000005.10:g.150115795G>A	ExAC
PDGFRB	P09619	p.Arg1098Gln	rs151236133	missense variant	-	NC_000005.10:g.150115791C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg1098Pro	rs151236133	missense variant	-	NC_000005.10:g.150115791C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Arg1098Trp	rs267600485	missense variant	-	NC_000005.10:g.150115792G>A	ExAC,gnomAD
PDGFRB	P09619	p.Ala1099Val	rs373655593	missense variant	-	NC_000005.10:g.150115788G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRB	P09619	p.Asp1103Val	rs1200297003	missense variant	-	NC_000005.10:g.150115776T>A	TOPMed
HOXB7	P09629	p.Tyr6Ter	rs763954258	stop gained	-	NC_000017.11:g.48610901A>T	ExAC,gnomAD
HOXB7	P09629	p.Tyr6Ser	rs556138860	missense variant	-	NC_000017.11:g.48610902T>G	1000Genomes
HOXB7	P09629	p.Ala7Glu	rs763009085	missense variant	-	NC_000017.11:g.48610899G>T	ExAC
HOXB7	P09629	p.Thr9Ala	rs7406910	missense variant	-	NC_000017.11:g.48610894T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Leu10Phe	rs1029242526	missense variant	-	NC_000017.11:g.48610889T>G	TOPMed
HOXB7	P09629	p.Ser12Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48610884G>T	NCI-TCGA
HOXB7	P09629	p.Pro15Thr	rs1190787051	missense variant	-	NC_000017.11:g.48610876G>T	TOPMed
HOXB7	P09629	p.Ala16Pro	rs368160113	missense variant	-	NC_000017.11:g.48610873C>G	ESP,ExAC,gnomAD
HOXB7	P09629	p.Ser17Leu	rs149621604	missense variant	-	NC_000017.11:g.48610869G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ser19Leu	rs139369803	missense variant	-	NC_000017.11:g.48610863G>A	ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala22Val	rs1326010076	missense variant	-	NC_000017.11:g.48610854G>A	TOPMed
HOXB7	P09629	p.Gly24Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48610848C>G	NCI-TCGA
HOXB7	P09629	p.Gly24Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48610848C>T	NCI-TCGA
HOXB7	P09629	p.Phe26Leu	rs547407382	missense variant	-	NC_000017.11:g.48610841G>T	1000Genomes,ExAC,gnomAD
HOXB7	P09629	p.Phe26Leu	rs999990339	missense variant	-	NC_000017.11:g.48610843A>G	TOPMed
HOXB7	P09629	p.Ser31Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48610827G>T	NCI-TCGA
HOXB7	P09629	p.Ser31Phe	rs748728131	missense variant	-	NC_000017.11:g.48610827G>A	ExAC,gnomAD
HOXB7	P09629	p.Ser31Pro	rs879394029	missense variant	-	NC_000017.11:g.48610828A>G	TOPMed,gnomAD
HOXB7	P09629	p.Cys32Ser	rs755640117	missense variant	-	NC_000017.11:g.48610824C>G	ExAC,gnomAD
HOXB7	P09629	p.Cys32Arg	rs779513387	missense variant	-	NC_000017.11:g.48610825A>G	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Cys32Gly	rs779513387	missense variant	-	NC_000017.11:g.48610825A>C	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala33Val	rs750034805	missense variant	-	NC_000017.11:g.48610821G>A	ExAC,gnomAD
HOXB7	P09629	p.Phe34Ser	rs1340598461	missense variant	-	NC_000017.11:g.48610818A>G	TOPMed
HOXB7	P09629	p.Ser36Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48610812G>A	NCI-TCGA
HOXB7	P09629	p.Asn37Lys	rs1402277716	missense variant	-	NC_000017.11:g.48610808G>C	TOPMed,gnomAD
HOXB7	P09629	p.Asn37Lys	rs1402277716	missense variant	-	NC_000017.11:g.48610808G>T	TOPMed,gnomAD
HOXB7	P09629	p.Pro38Arg	rs757022553	missense variant	-	NC_000017.11:g.48610806G>C	ExAC
HOXB7	P09629	p.Arg40Cys	rs764020792	missense variant	-	NC_000017.11:g.48610801G>A	ExAC,gnomAD
HOXB7	P09629	p.Arg40His	rs758241276	missense variant	-	NC_000017.11:g.48610800C>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Pro41Leu	rs1478331928	missense variant	-	NC_000017.11:g.48610797G>A	TOPMed,gnomAD
HOXB7	P09629	p.Gly42Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48610794C>T	NCI-TCGA
HOXB7	P09629	p.Tyr43Cys	rs1237310201	missense variant	-	NC_000017.11:g.48610791T>C	gnomAD
HOXB7	P09629	p.Tyr43Ter	rs752732108	stop gained	-	NC_000017.11:g.48610790A>T	ExAC,gnomAD
HOXB7	P09629	p.Gly44Glu	rs765359875	missense variant	-	NC_000017.11:g.48610788C>T	ExAC,gnomAD
HOXB7	P09629	p.Ala45Ser	rs1257125887	missense variant	-	NC_000017.11:g.48610786C>A	TOPMed,gnomAD
HOXB7	P09629	p.Ala45Thr	rs1257125887	missense variant	-	NC_000017.11:g.48610786C>T	TOPMed,gnomAD
HOXB7	P09629	p.Gly46Ser	rs1198020877	missense variant	-	NC_000017.11:g.48610783C>T	gnomAD
HOXB7	P09629	p.Ala49Val	rs79247310	missense variant	-	NC_000017.11:g.48610773G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala49Thr	rs1473436633	missense variant	-	NC_000017.11:g.48610774C>T	TOPMed
HOXB7	P09629	p.Ala49Ser	rs1473436633	missense variant	-	NC_000017.11:g.48610774C>A	TOPMed
HOXB7	P09629	p.Ala52Thr	rs766495520	missense variant	-	NC_000017.11:g.48610765C>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala52Val	rs200232244	missense variant	-	NC_000017.11:g.48610764G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala53Ser	rs1330282869	missense variant	-	NC_000017.11:g.48610762C>A	gnomAD
HOXB7	P09629	p.Ala53Asp	rs201497048	missense variant	-	NC_000017.11:g.48610761G>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala53Val	rs201497048	missense variant	-	NC_000017.11:g.48610761G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ser54Trp	rs748601632	missense variant	-	NC_000017.11:g.48610758G>C	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ser54Ter	rs748601632	stop gained	-	NC_000017.11:g.48610758G>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Gly57Cys	rs774868007	missense variant	-	NC_000017.11:g.48610750C>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Leu58Phe	rs199853122	missense variant	-	NC_000017.11:g.48610745C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Leu58Ser	rs1473984230	missense variant	-	NC_000017.11:g.48610746A>G	gnomAD
HOXB7	P09629	p.Tyr59Phe	rs756859924	missense variant	-	NC_000017.11:g.48610743T>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Pro60Ser	rs1286455108	missense variant	-	NC_000017.11:g.48610741G>A	TOPMed
HOXB7	P09629	p.Gly62Ala	rs2303483	missense variant	-	NC_000017.11:g.48610734C>G	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Gly62Glu	rs2303483	missense variant	-	NC_000017.11:g.48610734C>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Gly62Arg	rs777408517	missense variant	-	NC_000017.11:g.48610735C>G	ExAC,gnomAD
HOXB7	P09629	p.Gly62Val	rs2303483	missense variant	-	NC_000017.11:g.48610734C>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Gly63Arg	rs938327408	missense variant	-	NC_000017.11:g.48610732C>T	gnomAD
HOXB7	P09629	p.Gly63Arg	rs938327408	missense variant	-	NC_000017.11:g.48610732C>G	gnomAD
HOXB7	P09629	p.Gly64Val	rs201998748	missense variant	-	NC_000017.11:g.48610728C>A	1000Genomes,TOPMed,gnomAD
HOXB7	P09629	p.Gly64Cys	rs182239380	missense variant	-	NC_000017.11:g.48610729C>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Gly64Ala	rs201998748	missense variant	-	NC_000017.11:g.48610728C>G	1000Genomes,TOPMed,gnomAD
HOXB7	P09629	p.Gly64Ser	rs182239380	missense variant	-	NC_000017.11:g.48610729C>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Gly64Arg	rs182239380	missense variant	-	NC_000017.11:g.48610729C>G	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Met65Ile	rs1237563412	missense variant	-	NC_000017.11:g.48610724C>T	gnomAD
HOXB7	P09629	p.Ala66Glu	rs113225716	missense variant	-	NC_000017.11:g.48610722G>T	gnomAD
HOXB7	P09629	p.Ala66Gly	rs113225716	missense variant	-	NC_000017.11:g.48610722G>C	gnomAD
HOXB7	P09629	p.Ala66Ser	rs200263899	missense variant	-	NC_000017.11:g.48610723C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Gln68His	rs1335616544	missense variant	-	NC_000017.11:g.48610715C>G	TOPMed
HOXB7	P09629	p.Ala70Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48610711C>T	NCI-TCGA
HOXB7	P09629	p.Ala70Val	rs773501461	missense variant	-	NC_000017.11:g.48610710G>A	ExAC,gnomAD
HOXB7	P09629	p.Ala70Gly	rs773501461	missense variant	-	NC_000017.11:g.48610710G>C	ExAC,gnomAD
HOXB7	P09629	p.Val73Ala	rs958038116	missense variant	-	NC_000017.11:g.48610701A>G	TOPMed
HOXB7	P09629	p.Tyr74Cys	rs1158248600	missense variant	-	NC_000017.11:g.48610698T>C	gnomAD
HOXB7	P09629	p.Ala75Gly	rs762166968	missense variant	-	NC_000017.11:g.48610695G>C	ExAC,gnomAD
HOXB7	P09629	p.Ala76Asp	rs774778475	missense variant	-	NC_000017.11:g.48610692G>T	ExAC,gnomAD
HOXB7	P09629	p.Gly77Ser	COSM3989101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.48610690C>T	NCI-TCGA Cosmic
HOXB7	P09629	p.Gly77Ala	rs1477747847	missense variant	-	NC_000017.11:g.48610689C>G	gnomAD
HOXB7	P09629	p.Tyr78Cys	rs35657716	missense variant	-	NC_000017.11:g.48610686T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Tyr78Asp	rs1238280529	missense variant	-	NC_000017.11:g.48610687A>C	TOPMed
HOXB7	P09629	p.Glu81Gln	rs758201923	missense variant	-	NC_000017.11:g.48610678C>G	ExAC,gnomAD
HOXB7	P09629	p.Glu81Lys	rs758201923	missense variant	-	NC_000017.11:g.48610678C>T	ExAC,gnomAD
HOXB7	P09629	p.Pro82Leu	rs1218073773	missense variant	-	NC_000017.11:g.48610674G>A	gnomAD
HOXB7	P09629	p.Pro82Ser	rs1013375252	missense variant	-	NC_000017.11:g.48610675G>A	TOPMed
HOXB7	P09629	p.Ser84Phe	rs1244208312	missense variant	-	NC_000017.11:g.48610668G>A	gnomAD
HOXB7	P09629	p.Phe85Leu	rs747971404	missense variant	-	NC_000017.11:g.48610664G>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Met87Thr	rs1179766644	missense variant	-	NC_000017.11:g.48610659A>G	TOPMed
HOXB7	P09629	p.Met87Val	rs1298042676	missense variant	-	NC_000017.11:g.48610660T>C	gnomAD
HOXB7	P09629	p.Cys89Arg	rs754932765	missense variant	-	NC_000017.11:g.48610654A>G	ExAC,gnomAD
HOXB7	P09629	p.Pro91Ser	rs753873930	missense variant	-	NC_000017.11:g.48610648G>A	ExAC,gnomAD
HOXB7	P09629	p.Glu93Gly	rs779948502	missense variant	-	NC_000017.11:g.48610641T>C	ExAC
HOXB7	P09629	p.Leu96Phe	rs756244790	missense variant	-	NC_000017.11:g.48610633G>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Gly98Arg	rs867468546	missense variant	-	NC_000017.11:g.48610627C>T	TOPMed,gnomAD
HOXB7	P09629	p.Gly98Trp	rs867468546	missense variant	-	NC_000017.11:g.48610627C>A	TOPMed,gnomAD
HOXB7	P09629	p.Cys100Ser	rs750541131	missense variant	-	NC_000017.11:g.48610620C>G	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Asp103Ala	rs767791763	missense variant	-	NC_000017.11:g.48610611T>G	ExAC,gnomAD
HOXB7	P09629	p.Ala105Val	rs1331902913	missense variant	-	NC_000017.11:g.48610605G>A	TOPMed
HOXB7	P09629	p.Ala108Val	rs1286233856	missense variant	-	NC_000017.11:g.48610596G>A	TOPMed,gnomAD
HOXB7	P09629	p.Ala108Glu	rs1286233856	missense variant	-	NC_000017.11:g.48610596G>T	TOPMed,gnomAD
HOXB7	P09629	p.Gly109Asp	rs1209031456	missense variant	-	NC_000017.11:g.48610593C>T	gnomAD
HOXB7	P09629	p.Lys111Glu	rs762082637	missense variant	-	NC_000017.11:g.48610588T>C	ExAC,gnomAD
HOXB7	P09629	p.Glu112Lys	rs1331947444	missense variant	-	NC_000017.11:g.48610585C>T	TOPMed
HOXB7	P09629	p.Gln113Arg	rs751919858	missense variant	-	NC_000017.11:g.48610581T>C	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg114Lys	rs1346621949	missense variant	-	NC_000017.11:g.48610578C>T	TOPMed,gnomAD
HOXB7	P09629	p.Asp115Glu	rs764486673	missense variant	-	NC_000017.11:g.48610574G>C	ExAC,gnomAD
HOXB7	P09629	p.Ser116Trp	rs377243732	missense variant	-	NC_000017.11:g.48610572G>C	ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ser116Leu	rs377243732	missense variant	-	NC_000017.11:g.48610572G>A	ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ser116Pro	rs763432211	missense variant	-	NC_000017.11:g.48610573A>G	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ser116Ala	rs763432211	missense variant	-	NC_000017.11:g.48610573A>C	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Asp117Glu	rs2228185	missense variant	-	NC_000017.11:g.48610568G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala119Glu	rs1465775621	missense variant	-	NC_000017.11:g.48610563G>T	gnomAD
HOXB7	P09629	p.Ala120Val	rs1178413203	missense variant	-	NC_000017.11:g.48610560G>A	TOPMed,gnomAD
HOXB7	P09629	p.Ala120Thr	rs772684959	missense variant	-	NC_000017.11:g.48610561C>T	ExAC,gnomAD
HOXB7	P09629	p.Glu121Gln	rs1470348978	missense variant	-	NC_000017.11:g.48610558C>G	gnomAD
HOXB7	P09629	p.Glu121Gly	rs1007769481	missense variant	-	NC_000017.11:g.48610557T>C	TOPMed,gnomAD
HOXB7	P09629	p.Ser122Thr	rs1168479931	missense variant	-	NC_000017.11:g.48610554C>G	TOPMed,gnomAD
HOXB7	P09629	p.Ser122Asn	rs1168479931	missense variant	-	NC_000017.11:g.48610554C>T	TOPMed,gnomAD
HOXB7	P09629	p.Asn123Ser	rs556012769	missense variant	-	NC_000017.11:g.48610551T>C	1000Genomes,ExAC,gnomAD
HOXB7	P09629	p.Arg125Gly	rs904113580	missense variant	-	NC_000017.11:g.48610546G>C	gnomAD
HOXB7	P09629	p.Arg125Gln	rs536226659	missense variant	-	NC_000017.11:g.48610545C>T	1000Genomes,ExAC,gnomAD
HOXB7	P09629	p.Pro128Leu	rs768594534	missense variant	-	NC_000017.11:g.48610536G>A	ExAC,gnomAD
HOXB7	P09629	p.Arg131Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48610527C>T	NCI-TCGA
HOXB7	P09629	p.Arg131Ter	rs1238846693	stop gained	-	NC_000017.11:g.48610528G>A	gnomAD
HOXB7	P09629	p.Arg131Leu	rs749136655	missense variant	-	NC_000017.11:g.48610527C>A	ExAC,gnomAD
HOXB7	P09629	p.Ser132Asn	rs780042064	missense variant	-	NC_000017.11:g.48610524C>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ser133Ter	rs756086451	stop gained	-	NC_000017.11:g.48610521G>C	ExAC,gnomAD
HOXB7	P09629	p.Asp136Asn	rs747192791	missense variant	-	NC_000017.11:g.48608090C>T	ExAC,gnomAD
HOXB7	P09629	p.Arg137Ser	rs200174441	missense variant	-	NC_000017.11:g.48608087G>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg137His	rs200454962	missense variant	-	NC_000017.11:g.48608086C>T	1000Genomes
HOXB7	P09629	p.Arg137Gly	rs200174441	missense variant	-	NC_000017.11:g.48608087G>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg137Cys	rs200174441	missense variant	-	NC_000017.11:g.48608087G>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Lys138Arg	rs753094787	missense variant	-	NC_000017.11:g.48608083T>C	ExAC,gnomAD
HOXB7	P09629	p.Arg139Gln	COSM4930121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.48608080C>T	NCI-TCGA Cosmic
HOXB7	P09629	p.Arg139Gly	rs765558409	missense variant	-	NC_000017.11:g.48608081G>C	ExAC,gnomAD
HOXB7	P09629	p.Arg139Ter	rs765558409	stop gained	-	NC_000017.11:g.48608081G>A	ExAC,gnomAD
HOXB7	P09629	p.Gly140Ser	rs1238714218	missense variant	-	NC_000017.11:g.48608078C>T	TOPMed
HOXB7	P09629	p.Arg141His	rs754323715	missense variant	-	NC_000017.11:g.48608074C>T	ExAC,gnomAD
HOXB7	P09629	p.Arg141Gly	rs755486920	missense variant	-	NC_000017.11:g.48608075G>C	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg141Cys	rs755486920	missense variant	-	NC_000017.11:g.48608075G>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Thr143Ser	rs1162096136	missense variant	-	NC_000017.11:g.48608069T>A	TOPMed
HOXB7	P09629	p.Tyr144Cys	rs1408691774	missense variant	-	NC_000017.11:g.48608065T>C	TOPMed
HOXB7	P09629	p.Arg146Leu	rs774086175	missense variant	-	NC_000017.11:g.48608059C>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg146His	rs774086175	missense variant	-	NC_000017.11:g.48608059C>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg146Cys	rs761408048	missense variant	-	NC_000017.11:g.48608060G>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg146Ser	rs761408048	missense variant	-	NC_000017.11:g.48608060G>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Gln148His	rs1281605432	missense variant	-	NC_000017.11:g.48608052C>A	gnomAD
HOXB7	P09629	p.Gln148Glu	rs1470435140	missense variant	-	NC_000017.11:g.48608054G>C	TOPMed
HOXB7	P09629	p.Leu150Met	rs369415843	missense variant	-	NC_000017.11:g.48608048G>T	ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Glu151Gln	rs775327106	missense variant	-	NC_000017.11:g.48608045C>G	ExAC,gnomAD
HOXB7	P09629	p.Leu152Val	rs1338921368	missense variant	-	NC_000017.11:g.48608042G>C	TOPMed
HOXB7	P09629	p.Glu153Gly	rs1447439097	missense variant	-	NC_000017.11:g.48608038T>C	TOPMed
HOXB7	P09629	p.Glu153Ter	rs1242345046	stop gained	-	NC_000017.11:g.48608039C>A	gnomAD
HOXB7	P09629	p.Glu155Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.48608033C>A	NCI-TCGA
HOXB7	P09629	p.Glu155Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48608032T>C	NCI-TCGA
HOXB7	P09629	p.Tyr158Asn	rs1012338358	missense variant	-	NC_000017.11:g.48608024A>T	gnomAD
HOXB7	P09629	p.Tyr158Cys	rs745772585	missense variant	-	NC_000017.11:g.48608023T>C	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Asn159Thr	rs1392632509	missense variant	-	NC_000017.11:g.48608020T>G	TOPMed,gnomAD
HOXB7	P09629	p.Asn159Ser	rs1392632509	missense variant	-	NC_000017.11:g.48608020T>C	TOPMed,gnomAD
HOXB7	P09629	p.Asn159His	rs776585340	missense variant	-	NC_000017.11:g.48608021T>G	ExAC,gnomAD
HOXB7	P09629	p.Arg160Cys	rs770931876	missense variant	-	NC_000017.11:g.48608018G>A	ExAC,TOPMed
HOXB7	P09629	p.Leu162Arg	rs1418859054	missense variant	-	NC_000017.11:g.48608011A>C	gnomAD
HOXB7	P09629	p.Leu162Val	rs777889579	missense variant	-	NC_000017.11:g.48608012G>C	ExAC,gnomAD
HOXB7	P09629	p.Thr163Met	rs1160058516	missense variant	-	NC_000017.11:g.48608008G>A	gnomAD
HOXB7	P09629	p.Arg164Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48608006G>A	NCI-TCGA
HOXB7	P09629	p.Arg164Leu	rs533071036	missense variant	-	NC_000017.11:g.48608005C>A	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg165Trp	rs779286425	missense variant	-	NC_000017.11:g.48608003G>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg165Gly	rs779286425	missense variant	-	NC_000017.11:g.48608003G>C	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg165Pro	rs755328654	missense variant	-	NC_000017.11:g.48608002C>G	ExAC,gnomAD
HOXB7	P09629	p.Arg166Trp	COSM4067391	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.48608000G>A	NCI-TCGA Cosmic
HOXB7	P09629	p.Arg166Gln	rs754330441	missense variant	-	NC_000017.11:g.48607999C>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Arg167His	rs1021711604	missense variant	-	NC_000017.11:g.48607996C>T	TOPMed
HOXB7	P09629	p.Arg167Ser	rs767002458	missense variant	-	NC_000017.11:g.48607997G>T	ExAC,gnomAD
HOXB7	P09629	p.Arg167Gly	rs767002458	missense variant	-	NC_000017.11:g.48607997G>C	ExAC,gnomAD
HOXB7	P09629	p.Ile168Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48607993A>C	NCI-TCGA
HOXB7	P09629	p.Glu169Gln	rs1473536987	missense variant	-	NC_000017.11:g.48607991C>G	TOPMed
HOXB7	P09629	p.Ala171Glu	rs762648399	missense variant	-	NC_000017.11:g.48607984G>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala171Thr	rs763554332	missense variant	-	NC_000017.11:g.48607985C>T	ExAC,TOPMed
HOXB7	P09629	p.Ala171Val	rs762648399	missense variant	-	NC_000017.11:g.48607984G>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Thr173Arg	rs1255427896	missense variant	-	NC_000017.11:g.48607978G>C	TOPMed,gnomAD
HOXB7	P09629	p.Thr173Met	rs1255427896	missense variant	-	NC_000017.11:g.48607978G>A	TOPMed,gnomAD
HOXB7	P09629	p.Cys175Tyr	rs765046532	missense variant	-	NC_000017.11:g.48607972C>T	ExAC,gnomAD
HOXB7	P09629	p.Thr177Lys	rs138865004	missense variant	-	NC_000017.11:g.48607966G>T	ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Thr177Met	rs138865004	missense variant	-	NC_000017.11:g.48607966G>A	ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Glu178Ter	rs747017326	stop gained	-	NC_000017.11:g.48607964C>A	ExAC,gnomAD
HOXB7	P09629	p.Arg179Gly	rs1338107732	missense variant	-	NC_000017.11:g.48607961T>C	gnomAD
HOXB7	P09629	p.Gln180Glu	rs201785717	missense variant	-	NC_000017.11:g.48607958G>C	1000Genomes,ExAC,gnomAD
HOXB7	P09629	p.Ile181Phe	rs748360244	missense variant	-	NC_000017.11:g.48607955T>A	ExAC,gnomAD
HOXB7	P09629	p.Ile181Met	rs1400883213	missense variant	-	NC_000017.11:g.48607953G>C	gnomAD
HOXB7	P09629	p.Lys182Glu	rs1170367362	missense variant	-	NC_000017.11:g.48607952T>C	gnomAD
HOXB7	P09629	p.Trp184Ter	rs1467121319	stop gained	-	NC_000017.11:g.48607945C>T	gnomAD
HOXB7	P09629	p.Phe185Ser	rs1432148355	missense variant	-	NC_000017.11:g.48607942A>G	gnomAD
HOXB7	P09629	p.Asn187Ser	rs1329657682	missense variant	-	NC_000017.11:g.48607936T>C	TOPMed
HOXB7	P09629	p.Arg188Trp	rs769002590	missense variant	-	NC_000017.11:g.48607934G>A	ExAC,gnomAD
HOXB7	P09629	p.Arg188Pro	rs1431839780	missense variant	-	NC_000017.11:g.48607933C>G	gnomAD
HOXB7	P09629	p.Arg189Leu	rs780628804	missense variant	-	NC_000017.11:g.48607930C>A	ExAC,gnomAD
HOXB7	P09629	p.Arg189Cys	rs147661273	missense variant	-	NC_000017.11:g.48607931G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Met190Leu	rs141833680	missense variant	-	NC_000017.11:g.48607928T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Lys191Arg	rs143679393	missense variant	-	NC_000017.11:g.48607924T>C	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Trp192Cys	rs757879230	missense variant	-	NC_000017.11:g.48607920C>A	ExAC,gnomAD
HOXB7	P09629	p.Lys194Arg	rs752328350	missense variant	-	NC_000017.11:g.48607915T>C	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Glu195Ter	rs751414149	stop gained	-	NC_000017.11:g.48607913C>A	TOPMed,gnomAD
HOXB7	P09629	p.Glu195Gly	rs763870782	missense variant	-	NC_000017.11:g.48607912T>C	TOPMed,gnomAD
HOXB7	P09629	p.Asn196Lys	rs374453650	missense variant	-	NC_000017.11:g.48607908G>T	ESP,TOPMed,gnomAD
HOXB7	P09629	p.Asn196Lys	rs374453650	missense variant	-	NC_000017.11:g.48607908G>C	ESP,TOPMed,gnomAD
HOXB7	P09629	p.Lys197Glu	rs764814825	missense variant	-	NC_000017.11:g.48607907T>C	ExAC,gnomAD
HOXB7	P09629	p.Ala199Thr	rs759247051	missense variant	-	NC_000017.11:g.48607901C>T	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala199Val	rs766204258	missense variant	-	NC_000017.11:g.48607900G>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala199Ser	rs759247051	missense variant	-	NC_000017.11:g.48607901C>A	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Ala199Gly	rs766204258	missense variant	-	NC_000017.11:g.48607900G>C	ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Thr203Ile	rs772118729	missense variant	-	NC_000017.11:g.48607888G>A	ExAC,gnomAD
HOXB7	P09629	p.Gly205Asp	rs1337987639	missense variant	-	NC_000017.11:g.48607882C>T	gnomAD
HOXB7	P09629	p.Asp207Gly	COSM980631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.48607876T>C	NCI-TCGA Cosmic
HOXB7	P09629	p.Asp207His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48607877C>G	NCI-TCGA
HOXB7	P09629	p.Glu210Asp	rs1421939683	missense variant	-	NC_000017.11:g.48607866T>G	gnomAD
HOXB7	P09629	p.Ala211Thr	rs200259884	missense variant	-	NC_000017.11:g.48607865C>T	1000Genomes,ExAC,TOPMed,gnomAD
HOXB7	P09629	p.Glu212Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.48607862C>T	NCI-TCGA
HOXB7	P09629	p.Glu213Lys	rs572654468	missense variant	-	NC_000017.11:g.48607859C>T	1000Genomes,ExAC,gnomAD
HOXB7	P09629	p.Glu214Lys	rs1307477029	missense variant	-	NC_000017.11:g.48607856C>T	TOPMed
HOXB7	P09629	p.Glu215Asp	rs1366760146	missense variant	-	NC_000017.11:g.48607851C>G	TOPMed
HOXB7	P09629	p.Glu217Lys	rs1368161959	missense variant	-	NC_000017.11:g.48607847C>T	gnomAD
GLI2	P10070	p.Thr3Ala	rs749244227	missense variant	-	NC_000002.12:g.120797327A>G	ExAC,gnomAD
GLI2	P10070	p.Thr3Met	rs770918439	missense variant	-	NC_000002.12:g.120797328C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser4Phe	rs1442637375	missense variant	-	NC_000002.12:g.120797331C>T	gnomAD
GLI2	P10070	p.Ala5Thr	rs745963460	missense variant	-	NC_000002.12:g.120797333G>A	ExAC,gnomAD
GLI2	P10070	p.Ser6Leu	rs772252117	missense variant	-	NC_000002.12:g.120797337C>T	ExAC,gnomAD
GLI2	P10070	p.Ala7Val	rs1262659333	missense variant	-	NC_000002.12:g.120797340C>T	TOPMed
GLI2	P10070	p.Glu11Lys	rs574656730	missense variant	-	NC_000002.12:g.120797351G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu11Asp	rs764422727	missense variant	-	NC_000002.12:g.120797353G>C	ExAC,gnomAD
GLI2	P10070	p.Glu11Asp	COSM4941074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120797353G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ala15Val	rs1175916421	missense variant	-	NC_000002.12:g.120797364C>T	gnomAD
GLI2	P10070	p.Ser17ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120797366A>-	NCI-TCGA
GLI2	P10070	p.Gly18Glu	rs762016048	missense variant	-	NC_000002.12:g.120797373G>A	ExAC,gnomAD
GLI2	P10070	p.Gly18Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120797373G>T	NCI-TCGA
GLI2	P10070	p.Ile19Asn	rs750880487	missense variant	-	NC_000002.12:g.120797376T>A	ExAC,gnomAD
GLI2	P10070	p.Leu20Pro	rs1309816028	missense variant	-	NC_000002.12:g.120797379T>C	gnomAD
GLI2	P10070	p.Leu20Val	rs754532059	missense variant	-	NC_000002.12:g.120797378C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu21Gln	rs766983639	missense variant	-	NC_000002.12:g.120797381G>C	ExAC,gnomAD
GLI2	P10070	p.Glu21Lys	rs766983639	missense variant	-	NC_000002.12:g.120797381G>A	ExAC,gnomAD
GLI2	P10070	p.Ala23Thr	rs201834541	missense variant	-	NC_000002.12:g.120797387G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro26Arg	rs1234816850	missense variant	-	NC_000002.12:g.120797397C>G	TOPMed
GLI2	P10070	p.Pro26Ser	COSM3565887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120797396C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Asp27Tyr	rs752505618	missense variant	-	NC_000002.12:g.120797399G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp27Asn	rs752505618	missense variant	-	NC_000002.12:g.120797399G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro28Leu	rs778954239	missense variant	-	NC_000002.12:g.120797403C>T	ExAC,gnomAD
GLI2	P10070	p.Gly29Asp	rs772341885	missense variant	-	NC_000002.12:g.120797406G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys30Gln	rs201053024	missense variant	-	NC_000002.12:g.120797408A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys31Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120797412A>G	NCI-TCGA
GLI2	P10070	p.Lys31ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120797408A>-	NCI-TCGA
GLI2	P10070	p.Ala32Thr	rs1013531220	missense variant	-	NC_000002.12:g.120797414G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala32Ser	rs1013531220	missense variant	-	NC_000002.12:g.120797414G>T	TOPMed,gnomAD
GLI2	P10070	p.Ala32Gly	rs1477842571	missense variant	-	NC_000002.12:g.120797415C>G	gnomAD
GLI2	P10070	p.Ser33Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120797418C>G	NCI-TCGA
GLI2	P10070	p.Leu35Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120797425G>C	NCI-TCGA
GLI2	P10070	p.Leu35Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120797425G>T	NCI-TCGA
GLI2	P10070	p.Val36Leu	rs1372666702	missense variant	-	NC_000002.12:g.120797426G>T	TOPMed
GLI2	P10070	p.Val37Met	rs768926635	missense variant	-	NC_000002.12:g.120797429G>A	ExAC,gnomAD
GLI2	P10070	p.Ala38Thr	rs1403966758	missense variant	-	NC_000002.12:g.120797432G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala38Val	COSM1005987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120797433C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ala39Val	rs1448772862	missense variant	-	NC_000002.12:g.120797436C>T	TOPMed
GLI2	P10070	p.Ala40Glu	rs146868972	missense variant	-	NC_000002.12:g.120797439C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala40Val	rs146868972	missense variant	-	NC_000002.12:g.120797439C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala40Thr	rs776675838	missense variant	-	NC_000002.12:g.120797438G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala41Thr	rs1444450120	missense variant	-	NC_000002.12:g.120797441G>A	gnomAD
GLI2	P10070	p.Ala42Val	rs765497124	missense variant	-	NC_000002.12:g.120797445C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala43Val	rs1232098625	missense variant	-	NC_000002.12:g.120797448C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala44Val	rs200095340	missense variant	-	NC_000002.12:g.120797451C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala46Thr	rs752220445	missense variant	-	NC_000002.12:g.120797456G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala47Val	rs990168694	missense variant	-	NC_000002.12:g.120797460C>T	TOPMed
GLI2	P10070	p.Ala47Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120797459G>A	NCI-TCGA
GLI2	P10070	p.Ala47Ser	rs1257815002	missense variant	-	NC_000002.12:g.120797459G>T	gnomAD
GLI2	P10070	p.Gln48Glu	rs755515251	missense variant	-	NC_000002.12:g.120797462C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln48Ter	rs755515251	stop gained	-	NC_000002.12:g.120797462C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln48Arg	rs1463824757	missense variant	-	NC_000002.12:g.120797463A>G	TOPMed
GLI2	P10070	p.Val50Met	rs1348627341	missense variant	-	NC_000002.12:g.120797468G>A	TOPMed,gnomAD
GLI2	P10070	p.Pro51Leu	rs780172791	missense variant	-	NC_000002.12:g.120927364C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro51Arg	rs780172791	missense variant	-	NC_000002.12:g.120927364C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro51Ser	COSM1005989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927363C>T	NCI-TCGA Cosmic
GLI2	P10070	p.His53Arg	rs755135160	missense variant	-	NC_000002.12:g.120927370A>G	ExAC
GLI2	P10070	p.His53Asp	rs971730244	missense variant	-	NC_000002.12:g.120927369C>G	TOPMed
GLI2	P10070	p.Leu54Val	rs781117793	missense variant	-	NC_000002.12:g.120927372C>G	ExAC,gnomAD
GLI2	P10070	p.Pro56Thr	rs748468288	missense variant	-	NC_000002.12:g.120927378C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro56Leu	rs141890398	missense variant	-	NC_000002.12:g.120927379C>T	ESP
GLI2	P10070	p.Phe58Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120927386C>G	NCI-TCGA
GLI2	P10070	p.His59Arg	rs777912029	missense variant	-	NC_000002.12:g.120927388A>G	ExAC,gnomAD
GLI2	P10070	p.Ala60Pro	rs540925998	missense variant	-	NC_000002.12:g.120927390G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala60Glu	rs1216175506	missense variant	-	NC_000002.12:g.120927391C>A	TOPMed,gnomAD
GLI2	P10070	p.Ala60Val	rs1216175506	missense variant	-	NC_000002.12:g.120927391C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala60Thr	rs540925998	missense variant	-	NC_000002.12:g.120927390G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro61Thr	rs1486772738	missense variant	-	NC_000002.12:g.120927393C>A	gnomAD
GLI2	P10070	p.Pro63Leu	rs147224778	missense variant	-	NC_000002.12:g.120927400C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro63Gln	rs147224778	missense variant	-	NC_000002.12:g.120927400C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met66Thr	rs1381958760	missense variant	-	NC_000002.12:g.120927409T>C	gnomAD
GLI2	P10070	p.Met66Val	rs768282760	missense variant	-	NC_000002.12:g.120927408A>G	ExAC,gnomAD
GLI2	P10070	p.Arg67Gln	rs776012263	missense variant	-	NC_000002.12:g.120927412G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg67Ter	rs1440006888	stop gained	-	NC_000002.12:g.120927411C>T	gnomAD
GLI2	P10070	p.Arg67Pro	rs776012263	missense variant	-	NC_000002.12:g.120927412G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln69Arg	rs1358300603	missense variant	-	NC_000002.12:g.120927418A>G	gnomAD
GLI2	P10070	p.Glu70Gln	rs761330896	missense variant	-	NC_000002.12:g.120927420G>C	ExAC,gnomAD
GLI2	P10070	p.Glu70Lys	rs761330896	missense variant	-	NC_000002.12:g.120927420G>A	ExAC,gnomAD
GLI2	P10070	p.Arg72Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120927427G>A	NCI-TCGA
GLI2	P10070	p.Tyr73Phe	rs1302961678	missense variant	-	NC_000002.12:g.120927430A>T	gnomAD
GLI2	P10070	p.His74Tyr	rs201945889	missense variant	-	NC_000002.12:g.120927432C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His74Arg	rs377700501	missense variant	-	NC_000002.12:g.120927433A>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His74Gln	rs762881299	missense variant	-	NC_000002.12:g.120927434T>A	ExAC,gnomAD
GLI2	P10070	p.Tyr75Ter	rs751570899	stop gained	-	NC_000002.12:g.120927437C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu76Lys	rs545152026	missense variant	-	NC_000002.12:g.120927438G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro77Leu	rs767419996	missense variant	-	NC_000002.12:g.120927442C>T	ExAC,gnomAD
GLI2	P10070	p.His78Tyr	rs1052944701	missense variant	-	NC_000002.12:g.120927444C>T	TOPMed
GLI2	P10070	p.His78Gln	COSM3565888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927446T>A	NCI-TCGA Cosmic
GLI2	P10070	p.Ser79Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120927448C>A	NCI-TCGA
GLI2	P10070	p.Ser79Phe	rs1388007950	missense variant	-	NC_000002.12:g.120927448C>T	gnomAD
GLI2	P10070	p.Val80ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120927447_120927450TCTG>-	NCI-TCGA
GLI2	P10070	p.Gly82Ser	rs531807595	missense variant	-	NC_000002.12:g.120927456G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly82Asp	COSM3565889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927457G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Val83Ala	rs999987091	missense variant	-	NC_000002.12:g.120927460T>C	gnomAD
GLI2	P10070	p.Val83Met	rs777998245	missense variant	-	NC_000002.12:g.120927459G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His84Tyr	rs1201695981	missense variant	-	NC_000002.12:g.120927462C>T	gnomAD
GLI2	P10070	p.His84Gln	COSM1481899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927464C>G	NCI-TCGA Cosmic
GLI2	P10070	p.His84Gln	COSM716024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120927464C>A	NCI-TCGA Cosmic
GLI2	P10070	p.Gly85Arg	rs200540682	missense variant	-	NC_000002.12:g.120927465G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro86Leu	rs757479194	missense variant	-	NC_000002.12:g.120951245C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro86His	COSM6087257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951245C>A	NCI-TCGA Cosmic
GLI2	P10070	p.Pro87LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120951244C>-	NCI-TCGA
GLI2	P10070	p.Pro87Ser	COSM1690998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951247C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ala88Asp	rs779428379	missense variant	-	NC_000002.12:g.120951251C>A	gnomAD
GLI2	P10070	p.Ser90Arg	rs1317321309	missense variant	-	NC_000002.12:g.120951256A>C	TOPMed,gnomAD
GLI2	P10070	p.Gly91Ser	rs540240518	missense variant	-	NC_000002.12:g.120951259G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ser92Arg	rs1323424391	missense variant	-	NC_000002.12:g.120951264C>A	gnomAD
GLI2	P10070	p.Ser92Asn	COSM70906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951263G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Pro93Ala	rs1222100502	missense variant	-	NC_000002.12:g.120951265C>G	gnomAD
GLI2	P10070	p.Ile95Met	rs780467517	missense variant	-	NC_000002.12:g.120951273C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser96Phe	COSM3565890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951275C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ile98Phe	rs1050289427	missense variant	-	NC_000002.12:g.120951280A>T	TOPMed,gnomAD
GLI2	P10070	p.Ile98Val	rs1050289427	missense variant	-	NC_000002.12:g.120951280A>G	TOPMed,gnomAD
GLI2	P10070	p.Arg102Leu	rs148442092	missense variant	-	NC_000002.12:g.120951293G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg102Pro	rs148442092	missense variant	-	NC_000002.12:g.120951293G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg102Trp	rs368449972	missense variant	-	NC_000002.12:g.120951292C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg102Gln	rs148442092	missense variant	-	NC_000002.12:g.120951293G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu103Pro	rs748739602	missense variant	-	NC_000002.12:g.120951296T>C	ExAC,gnomAD
GLI2	P10070	p.Leu103His	rs748739602	missense variant	-	NC_000002.12:g.120951296T>A	ExAC,gnomAD
GLI2	P10070	p.Pro105Ser	rs1348461474	missense variant	-	NC_000002.12:g.120951301C>T	gnomAD
GLI2	P10070	p.Pro105Leu	rs370693310	missense variant	-	NC_000002.12:g.120951302C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His106Gln	rs759277639	missense variant	-	NC_000002.12:g.120951306C>A	ExAC,gnomAD
GLI2	P10070	p.Pro107Ala	rs767309313	missense variant	-	NC_000002.12:g.120951307C>G	ExAC,TOPMed
GLI2	P10070	p.Pro107Leu	rs374562179	missense variant	-	NC_000002.12:g.120951308C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala108Thr	rs574293436	missense variant	-	NC_000002.12:g.120951310G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Gly109Val	rs1381307821	missense variant	-	NC_000002.12:g.120951314G>T	gnomAD
GLI2	P10070	p.Pro110Ser	rs143139718	missense variant	-	NC_000002.12:g.120951316C>T	ESP,TOPMed,gnomAD
GLI2	P10070	p.Pro110Arg	rs753931354	missense variant	-	NC_000002.12:g.120951317C>G	ExAC,gnomAD
GLI2	P10070	p.Pro110Ala	rs143139718	missense variant	-	NC_000002.12:g.120951316C>G	ESP,TOPMed,gnomAD
GLI2	P10070	p.Pro110Leu	rs753931354	missense variant	-	NC_000002.12:g.120951317C>T	ExAC,gnomAD
GLI2	P10070	p.Gly111Glu	rs1183446012	missense variant	-	NC_000002.12:g.120951320G>A	TOPMed
GLI2	P10070	p.Glu112Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120951322G>A	NCI-TCGA
GLI2	P10070	p.Pro114Arg	rs1356938307	missense variant	-	NC_000002.12:g.120951329C>G	gnomAD
GLI2	P10070	p.Ala117Thr	rs775984106	missense variant	-	NC_000002.12:g.120951337G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala117Gly	rs750629679	missense variant	-	NC_000002.12:g.120951338C>G	ExAC,gnomAD
GLI2	P10070	p.Pro118Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120951340C>G	NCI-TCGA
GLI2	P10070	p.Pro118Ser	rs940582075	missense variant	-	NC_000002.12:g.120951340C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro118Arg	rs758739873	missense variant	-	NC_000002.12:g.120951341C>G	ExAC,gnomAD
GLI2	P10070	p.His119ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120951338C>-	NCI-TCGA
GLI2	P10070	p.His119Asp	rs780453822	missense variant	-	NC_000002.12:g.120951343C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His119Arg	rs1473431556	missense variant	-	NC_000002.12:g.120951344A>G	gnomAD
GLI2	P10070	p.His119Asn	rs780453822	missense variant	-	NC_000002.12:g.120951343C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro120Leu	rs905463731	missense variant	-	NC_000002.12:g.120951347C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro120Gln	COSM6046759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951347C>A	NCI-TCGA Cosmic
GLI2	P10070	p.Tyr121Ter	rs748827715	stop gained	-	NC_000002.12:g.120951351C>G	ExAC,gnomAD
GLI2	P10070	p.Val122Met	rs778467271	missense variant	-	NC_000002.12:g.120951352G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val122Leu	rs778467271	missense variant	-	NC_000002.12:g.120951352G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro124Ala	rs771817329	missense variant	-	NC_000002.12:g.120951358C>G	ExAC,gnomAD
GLI2	P10070	p.Met126Ile	rs1380215998	missense variant	-	NC_000002.12:g.120951366G>A	TOPMed
GLI2	P10070	p.Met126Val	rs775273286	missense variant	-	NC_000002.12:g.120951364A>G	ExAC,gnomAD
GLI2	P10070	p.Glu127SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120951366G>-	NCI-TCGA
GLI2	P10070	p.His128Tyr	rs895231080	missense variant	-	NC_000002.12:g.120951370C>T	TOPMed
GLI2	P10070	p.Tyr129Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120951374A>T	NCI-TCGA
GLI2	P10070	p.Leu130Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120951377T>C	NCI-TCGA
GLI2	P10070	p.Arg131Gly	rs760408401	missense variant	-	NC_000002.12:g.120951379C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg131His	rs149180414	missense variant	-	NC_000002.12:g.120951380G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg131Cys	rs760408401	missense variant	-	NC_000002.12:g.120951379C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser132Tyr	rs369649251	missense variant	-	NC_000002.12:g.120951383C>A	ESP,ExAC,gnomAD
GLI2	P10070	p.His134Tyr	rs374071898	missense variant	-	NC_000002.12:g.120951388C>T	ESP,ExAC,gnomAD
GLI2	P10070	p.Ser135Gly	rs1364039736	missense variant	-	NC_000002.12:g.120951391A>G	TOPMed
GLI2	P10070	p.Ser135Arg	rs750668915	missense variant	-	NC_000002.12:g.120951393C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro137Ser	rs763231787	missense variant	-	NC_000002.12:g.120951397C>T	ExAC,gnomAD
GLI2	P10070	p.Pro137Thr	rs763231787	missense variant	-	NC_000002.12:g.120951397C>A	ExAC,gnomAD
GLI2	P10070	p.Thr138Met	rs148317983	missense variant	-	NC_000002.12:g.120951401C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu139Phe	rs1241902793	missense variant	-	NC_000002.12:g.120951403C>T	gnomAD
GLI2	P10070	p.Ser143Pro	rs1459472259	missense variant	-	NC_000002.12:g.120951415T>C	gnomAD
GLI2	P10070	p.Ser143Thr	COSM6087256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120951415T>A	NCI-TCGA Cosmic
GLI2	P10070	p.Gly147Val	rs755345187	missense variant	-	NC_000002.12:g.120951428G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly147Cys	rs1380038093	missense variant	-	NC_000002.12:g.120951427G>T	gnomAD
GLI2	P10070	p.Leu148Phe	rs1019196430	missense variant	-	NC_000002.12:g.120951430C>T	TOPMed,gnomAD
GLI2	P10070	p.Ser149Gly	rs968089585	missense variant	-	NC_000002.12:g.120951433A>G	TOPMed
GLI2	P10070	p.Ala151Pro	rs781771721	missense variant	-	NC_000002.12:g.120951439G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala151Val	rs1334776936	missense variant	-	NC_000002.12:g.120951440C>T	gnomAD
GLI2	P10070	p.Ala151Thr	rs781771721	missense variant	-	NC_000002.12:g.120951439G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His157Tyr	rs1197481825	missense variant	-	NC_000002.12:g.120955256C>T	gnomAD
GLI2	P10070	p.His157Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120955256C>G	NCI-TCGA
GLI2	P10070	p.Lys159Asn	rs757809797	missense variant	-	NC_000002.12:g.120955264G>C	ExAC
GLI2	P10070	p.Lys159Thr	rs1357449520	missense variant	-	NC_000002.12:g.120955263A>C	TOPMed
GLI2	P10070	p.Glu160Lys	rs1265447957	missense variant	-	NC_000002.12:g.120955265G>A	gnomAD
GLI2	P10070	p.Arg161Lys	COSM716022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120955269G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Gly162Arg	rs201413039	missense variant	-	NC_000002.12:g.120955271G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Leu163Gln	rs746643815	missense variant	-	NC_000002.12:g.120955275T>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly165Asp	rs780961532	missense variant	-	NC_000002.12:g.120955281G>A	ExAC,gnomAD
GLI2	P10070	p.Gly165Cys	rs922060710	missense variant	-	NC_000002.12:g.120955280G>T	TOPMed
GLI2	P10070	p.Leu166Phe	COSM4084547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120955283C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Pro167Ser	rs769784117	missense variant	-	NC_000002.12:g.120955286C>T	ExAC,gnomAD
GLI2	P10070	p.Pro167Thr	rs769784117	missense variant	-	NC_000002.12:g.120955286C>A	ExAC,gnomAD
GLI2	P10070	p.Ala168Ser	rs749416157	missense variant	-	NC_000002.12:g.120955289G>T	ExAC,gnomAD
GLI2	P10070	p.Gly170Arg	rs1400143753	missense variant	-	NC_000002.12:g.120955295G>C	gnomAD
GLI2	P10070	p.Gly170Ser	rs1400143753	missense variant	-	NC_000002.12:g.120955295G>A	gnomAD
GLI2	P10070	p.Thr172Asn	rs200720726	missense variant	-	NC_000002.12:g.120955302C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp175Gly	rs768057626	missense variant	-	NC_000002.12:g.120955311A>G	ExAC,gnomAD
GLI2	P10070	p.His178Asn	rs1323089668	missense variant	-	NC_000002.12:g.120955319C>A	TOPMed
GLI2	P10070	p.His178Tyr	rs1323089668	missense variant	-	NC_000002.12:g.120955319C>T	TOPMed
GLI2	P10070	p.Met180Thr	rs760903616	missense variant	-	NC_000002.12:g.120955326T>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met180Leu	rs565813552	missense variant	-	NC_000002.12:g.120955325A>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met180Lys	rs760903616	missense variant	-	NC_000002.12:g.120955326T>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val183Met	rs754272697	missense variant	-	NC_000002.12:g.120955334G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val183Leu	rs754272697	missense variant	-	NC_000002.12:g.120955334G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala188Val	rs147419287	missense variant	-	NC_000002.12:g.120955350C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala188Thr	rs138974360	missense variant	-	NC_000002.12:g.120955349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro189Leu	rs1350284317	missense variant	-	NC_000002.12:g.120955353C>T	gnomAD
GLI2	P10070	p.Pro189Ser	rs1161429205	missense variant	-	NC_000002.12:g.120955352C>T	gnomAD
GLI2	P10070	p.Gly191Arg	rs202141899	missense variant	-	NC_000002.12:g.120955358G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met195Ile	rs201235005	missense variant	-	NC_000002.12:g.120955372G>A	1000Genomes
GLI2	P10070	p.Met195Val	COSM1005992	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120955370A>G	NCI-TCGA Cosmic
GLI2	P10070	p.Gln196His	rs35193793	missense variant	-	NC_000002.12:g.120955375G>C	gnomAD
GLI2	P10070	p.Gln196Lys	rs1335366657	missense variant	-	NC_000002.12:g.120955373C>A	gnomAD
GLI2	P10070	p.Ser197Asn	rs556019545	missense variant	-	NC_000002.12:g.120955377G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser197Thr	rs556019545	missense variant	-	NC_000002.12:g.120955377G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser197Arg	rs745872978	missense variant	-	NC_000002.12:g.120955378C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly198Arg	rs567800401	missense variant	-	NC_000002.12:g.120955379G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly199Asp	rs1331531799	missense variant	-	NC_000002.12:g.120955383G>A	TOPMed
GLI2	P10070	p.Gly199Ser	rs542892514	missense variant	-	NC_000002.12:g.120955382G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala200Thr	rs111840592	missense variant	-	NC_000002.12:g.120955385G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala203Thr	rs147044066	missense variant	-	NC_000002.12:g.120955394G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala203Val	rs1399406886	missense variant	-	NC_000002.12:g.120955395C>T	TOPMed
GLI2	P10070	p.Pro204Ser	rs1280539932	missense variant	-	NC_000002.12:g.120955397C>T	gnomAD
GLI2	P10070	p.His207Gln	rs767227926	missense variant	-	NC_000002.12:g.120955408C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His207Gln	rs767227926	missense variant	-	NC_000002.12:g.120955408C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp208Asn	rs1021891477	missense variant	-	NC_000002.12:g.120955409G>A	TOPMed,gnomAD
GLI2	P10070	p.Asn211Asp	rs1157846277	missense variant	-	NC_000002.12:g.120955418A>G	gnomAD
GLI2	P10070	p.Pro212Ala	rs1234597039	missense variant	-	NC_000002.12:g.120955421C>G	gnomAD
GLI2	P10070	p.Val213Leu	rs202139687	missense variant	-	NC_000002.12:g.120955424G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val213Ala	rs757261582	missense variant	-	NC_000002.12:g.120955425T>C	ExAC,gnomAD
GLI2	P10070	p.Val213Met	rs202139687	missense variant	-	NC_000002.12:g.120955424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val215Gly	rs781426186	missense variant	-	NC_000002.12:g.120968714T>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val215Met	rs778948635	missense variant	-	NC_000002.12:g.120955430G>A	ExAC,gnomAD
GLI2	P10070	p.Arg217His	rs145779352	missense variant	-	NC_000002.12:g.120968720G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg217Gly	rs149819397	missense variant	-	NC_000002.12:g.120968719C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg217Cys	rs149819397	missense variant	-	NC_000002.12:g.120968719C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser220Arg	rs1244856449	missense variant	-	NC_000002.12:g.120968728A>C	TOPMed,gnomAD
GLI2	P10070	p.Ser220Arg	rs868349213	missense variant	-	NC_000002.12:g.120968730C>G	TOPMed
GLI2	P10070	p.Pro221Ser	rs771675078	missense variant	-	NC_000002.12:g.120968731C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro221Leu	rs774865060	missense variant	-	NC_000002.12:g.120968732C>T	ExAC,gnomAD
GLI2	P10070	p.Arg222Gly	rs763688196	missense variant	-	NC_000002.12:g.120968734C>G	ExAC,gnomAD
GLI2	P10070	p.Arg222Leu	rs1213874652	missense variant	-	NC_000002.12:g.120968735G>T	gnomAD
GLI2	P10070	p.Arg222Trp	rs763688196	missense variant	-	NC_000002.12:g.120968734C>T	ExAC,gnomAD
GLI2	P10070	p.Val223Met	rs1293201291	missense variant	-	NC_000002.12:g.120968737G>A	TOPMed,gnomAD
GLI2	P10070	p.Val223Leu	rs1293201291	missense variant	-	NC_000002.12:g.120968737G>T	TOPMed,gnomAD
GLI2	P10070	p.Thr224Met	rs370333257	missense variant	-	NC_000002.12:g.120968741C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro225Ala	rs765114744	missense variant	-	NC_000002.12:g.120968743C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro225Leu	rs750454406	missense variant	-	NC_000002.12:g.120968744C>T	ExAC,gnomAD
GLI2	P10070	p.Arg226Cys	rs758273853	missense variant	-	NC_000002.12:g.120968746C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg226His	rs766283583	missense variant	-	NC_000002.12:g.120968747G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu227Met	COSM6153561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120968749C>A	NCI-TCGA Cosmic
GLI2	P10070	p.Arg229Cys	rs751614251	missense variant	-	NC_000002.12:g.120968755C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg229His	rs755043644	missense variant	-	NC_000002.12:g.120968756G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg231Gly	rs781430951	missense variant	-	NC_000002.12:g.120968761C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg231Gln	rs756527906	missense variant	-	NC_000002.12:g.120968762G>A	ExAC,gnomAD
GLI2	P10070	p.Arg231Trp	rs781430951	missense variant	-	NC_000002.12:g.120968761C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala232Val	rs778102879	missense variant	-	NC_000002.12:g.120968765C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala232Thr	rs1163330892	missense variant	-	NC_000002.12:g.120968764G>A	gnomAD
GLI2	P10070	p.Ser234Ala	rs1163351470	missense variant	-	NC_000002.12:g.120968770T>G	gnomAD
GLI2	P10070	p.Pro237Arg	rs1344630169	missense variant	-	NC_000002.12:g.120968780C>G	gnomAD
GLI2	P10070	p.Asp240Gly	rs774868889	missense variant	-	NC_000002.12:g.120968789A>G	ExAC,gnomAD
GLI2	P10070	p.Ala241Thr	rs768192957	missense variant	-	NC_000002.12:g.120968791G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp244His	rs1246514029	missense variant	-	NC_000002.12:g.120968800G>C	gnomAD
GLI2	P10070	p.Asp244Val	rs564228727	missense variant	-	NC_000002.12:g.120968801A>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Asp244Gly	COSM3894651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120968801A>G	NCI-TCGA Cosmic
GLI2	P10070	p.Leu245Met	rs372967229	missense variant	-	NC_000002.12:g.120968803C>A	ESP,ExAC,gnomAD
GLI2	P10070	p.Gln246Leu	rs1259680584	missense variant	-	NC_000002.12:g.120968807A>T	TOPMed
GLI2	P10070	p.Arg247Trp	rs138556334	missense variant	-	NC_000002.12:g.120968809C>T	ESP,ExAC,gnomAD
GLI2	P10070	p.Arg247Gln	rs1445852776	missense variant	-	NC_000002.12:g.120968810G>A	TOPMed,gnomAD
GLI2	P10070	p.Met248Val	rs762762887	missense variant	-	NC_000002.12:g.120968812A>G	ExAC,gnomAD
GLI2	P10070	p.Ile249Thr	rs1239783603	missense variant	-	NC_000002.12:g.120968816T>C	gnomAD
GLI2	P10070	p.Thr251Ser	rs766257727	missense variant	-	NC_000002.12:g.120968821A>T	ExAC,gnomAD
GLI2	P10070	p.Pro253Ser	rs751482056	missense variant	-	NC_000002.12:g.120968827C>T	ExAC,gnomAD
GLI2	P10070	p.Asn254Ser	rs755062619	missense variant	-	NC_000002.12:g.120968831A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser255Leu	rs767570213	missense variant	-	NC_000002.12:g.120968834C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala258Val	rs1408271855	missense variant	-	NC_000002.12:g.120968843C>T	gnomAD
GLI2	P10070	p.Ile260Val	rs543734429	missense variant	-	NC_000002.12:g.120968848A>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile260Leu	rs543734429	missense variant	-	NC_000002.12:g.120968848A>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile260Met	COSM441058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120968850C>G	NCI-TCGA Cosmic
GLI2	P10070	p.Asn262Ser	rs779340470	missense variant	-	NC_000002.12:g.120968855A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn262Lys	rs746377399	missense variant	-	NC_000002.12:g.120968856C>A	ExAC,gnomAD
GLI2	P10070	p.Arg264Gln	rs1279844511	missense variant	-	NC_000002.12:g.120968861G>A	gnomAD
GLI2	P10070	p.Ser265Arg	rs1349492097	missense variant	-	NC_000002.12:g.120968863A>C	gnomAD
GLI2	P10070	p.Ser266Ile	rs1227505337	missense variant	-	NC_000002.12:g.120968867G>T	gnomAD
GLI2	P10070	p.Ala268Val	rs146992756	missense variant	-	NC_000002.12:g.120968873C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala269Val	rs1261672861	missense variant	-	NC_000002.12:g.120968876C>T	gnomAD
GLI2	P10070	p.Ala269Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120968875G>A	NCI-TCGA
GLI2	P10070	p.Ser270Ile	rs1182974996	missense variant	-	NC_000002.12:g.120968879G>T	gnomAD
GLI2	P10070	p.Gly271Ser	rs144406619	missense variant	-	NC_000002.12:g.120968881G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His275IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120968890G>-	NCI-TCGA
GLI2	P10070	p.Ser277Leu	rs552495842	missense variant	-	NC_000002.12:g.120968900C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ala278Val	rs759512271	missense variant	-	NC_000002.12:g.120968903C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly279Cys	rs1195630588	missense variant	-	NC_000002.12:g.120968905G>T	gnomAD
GLI2	P10070	p.Ala280Val	rs1329278333	missense variant	-	NC_000002.12:g.120968909C>T	gnomAD
GLI2	P10070	p.Ala280Thr	rs767371997	missense variant	-	NC_000002.12:g.120968908G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala280Pro	rs767371997	missense variant	-	NC_000002.12:g.120968908G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Phe287Ser	rs1385529467	missense variant	-	NC_000002.12:g.120970407T>C	gnomAD
GLI2	P10070	p.Pro288Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120970409C>T	NCI-TCGA
GLI2	P10070	p.His289Pro	rs1473799452	missense variant	-	NC_000002.12:g.120970413A>C	TOPMed
GLI2	P10070	p.Pro290Leu	rs752088509	missense variant	-	NC_000002.12:g.120970416C>T	ExAC,gnomAD
GLI2	P10070	p.Ile291Phe	rs200853289	missense variant	-	NC_000002.12:g.120970418A>T	TOPMed,gnomAD
GLI2	P10070	p.Ile291Leu	rs200853289	missense variant	-	NC_000002.12:g.120970418A>C	TOPMed,gnomAD
GLI2	P10070	p.Pro293Leu	COSM3565897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120970425C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Val294Met	rs367810027	missense variant	-	NC_000002.12:g.120970427G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr296Ter	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120970435C>G	NCI-TCGA
GLI2	P10070	p.Tyr296Ter	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120970435C>A	NCI-TCGA
GLI2	P10070	p.Gln297Pro	rs748678120	missense variant	-	NC_000002.12:g.120970437A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln298Lys	rs1357058931	missense variant	-	NC_000002.12:g.120970439C>A	gnomAD
GLI2	P10070	p.Ile299Thr	rs371747744	missense variant	-	NC_000002.12:g.120970443T>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile299Asn	rs371747744	missense variant	-	NC_000002.12:g.120970443T>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser301Gly	rs746947997	missense variant	-	NC_000002.12:g.120970448A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser301Arg	rs768416096	missense variant	-	NC_000002.12:g.120970450C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser301Cys	rs746947997	missense variant	-	NC_000002.12:g.120970448A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln302His	rs375328592	missense variant	-	NC_000002.12:g.120970453G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln303Pro	rs761750550	missense variant	-	NC_000002.12:g.120970455A>C	ExAC,gnomAD
GLI2	P10070	p.Arg304Lys	rs765528898	missense variant	-	NC_000002.12:g.120970458G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly305Ser	rs773277858	missense variant	-	NC_000002.12:g.120970460G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly305Cys	rs773277858	missense variant	-	NC_000002.12:g.120970460G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly307Arg	rs201331588	missense variant	-	NC_000002.12:g.120970466G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ala309Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120970473C>A	NCI-TCGA
GLI2	P10070	p.Phe310Ser	rs1243486087	missense variant	-	NC_000002.12:g.120970476T>C	gnomAD
GLI2	P10070	p.Gly311Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120970479G>A	NCI-TCGA
GLI2	P10070	p.Gly311Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120970478G>A	NCI-TCGA
GLI2	P10070	p.Pro314Ser	rs746686990	missense variant	-	NC_000002.12:g.120970487C>T	ExAC,gnomAD
GLI2	P10070	p.Pro315Thr	rs1161213308	missense variant	-	NC_000002.12:g.120970490C>A	gnomAD
GLI2	P10070	p.Leu316Val	rs367854976	missense variant	-	NC_000002.12:g.120970493C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile317Met	rs755546739	missense variant	-	NC_000002.12:g.120970498C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro321Leu	rs767850109	missense variant	-	NC_000002.12:g.120970509C>T	ExAC,gnomAD
GLI2	P10070	p.Pro321Ala	rs1383493075	missense variant	-	NC_000002.12:g.120970508C>G	TOPMed,gnomAD
GLI2	P10070	p.Phe323Ser	rs1004316414	missense variant	-	NC_000002.12:g.120970515T>C	gnomAD
GLI2	P10070	p.Leu324Pro	rs144970612	missense variant	-	NC_000002.12:g.120970518T>C	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ala325Thr	rs1206940501	missense variant	-	NC_000002.12:g.120970520G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala325Val	rs745509639	missense variant	-	NC_000002.12:g.120970521C>T	ExAC
GLI2	P10070	p.Ala325Ser	COSM70907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120970520G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Gln326Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120970523C>A	NCI-TCGA
GLI2	P10070	p.Met329Leu	rs377150486	missense variant	-	NC_000002.12:g.120970532A>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met329Val	rs377150486	missense variant	-	NC_000002.12:g.120970532A>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met329Thr	rs1259004125	missense variant	-	NC_000002.12:g.120970533T>C	gnomAD
GLI2	P10070	p.Ala330Asp	rs746753743	missense variant	-	NC_000002.12:g.120970536C>A	ExAC,gnomAD
GLI2	P10070	p.Leu331Val	rs768661123	missense variant	-	NC_000002.12:g.120970538C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr332Ala	rs1199076730	missense variant	-	NC_000002.12:g.120970541A>G	TOPMed
GLI2	P10070	p.Ile334Val	rs769741962	missense variant	-	NC_000002.12:g.120970547A>G	ExAC,gnomAD
GLI2	P10070	p.Asn335Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120970551A>G	NCI-TCGA
GLI2	P10070	p.Asn335Asp	rs142356900	missense variant	-	NC_000002.12:g.120970550A>G	ESP
GLI2	P10070	p.Thr337Met	rs1419274436	missense variant	-	NC_000002.12:g.120970557C>T	gnomAD
GLI2	P10070	p.Thr339Ser	rs773624892	missense variant	-	NC_000002.12:g.120970562A>T	ExAC,gnomAD
GLI2	P10070	p.Gln340Lys	rs1361512980	missense variant	-	NC_000002.12:g.120970565C>A	gnomAD
GLI2	P10070	p.Gln340Arg	rs1271783575	missense variant	-	NC_000002.12:g.120970566A>G	TOPMed
GLI2	P10070	p.Leu341Arg	rs1186006851	missense variant	-	NC_000002.12:g.120970569T>G	TOPMed,gnomAD
GLI2	P10070	p.Ser342Arg	rs1471252389	missense variant	-	NC_000002.12:g.120970573C>A	gnomAD
GLI2	P10070	p.Ser344Gly	rs763261944	missense variant	-	NC_000002.12:g.120970577A>G	ExAC,gnomAD
GLI2	P10070	p.Ser344Thr	rs766641468	missense variant	-	NC_000002.12:g.120970578G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser344Asn	rs766641468	missense variant	-	NC_000002.12:g.120970578G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr351Ile	rs1260054187	missense variant	-	NC_000002.12:g.120970599C>T	gnomAD
GLI2	P10070	p.Thr351Ser	rs1367284256	missense variant	-	NC_000002.12:g.120970598A>T	TOPMed
GLI2	P10070	p.Asn352Lys	rs774869560	missense variant	-	NC_000002.12:g.120970603C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn352Lys	rs774869560	missense variant	-	NC_000002.12:g.120970603C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser357Gly	rs1294621829	missense variant	-	NC_000002.12:g.120971950A>G	TOPMed
GLI2	P10070	p.Ser358Arg	rs1382389036	missense variant	-	NC_000002.12:g.120971953A>C	TOPMed
GLI2	P10070	p.Ser360Leu	rs745666636	missense variant	-	NC_000002.12:g.120971960C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser360Pro	rs751191667	missense variant	-	NC_000002.12:g.120971959T>C	ExAC,gnomAD
GLI2	P10070	p.Val362Ile	rs370677655	missense variant	-	NC_000002.12:g.120971965G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val362Leu	rs370677655	missense variant	-	NC_000002.12:g.120971965G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser364Gly	rs1415148371	missense variant	-	NC_000002.12:g.120971971A>G	gnomAD
GLI2	P10070	p.Ser364Asn	rs1287694586	missense variant	-	NC_000002.12:g.120971972G>A	gnomAD
GLI2	P10070	p.Val366Ile	rs779324521	missense variant	-	NC_000002.12:g.120971977G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro368Ala	rs746061778	missense variant	-	NC_000002.12:g.120971983C>G	ExAC,gnomAD
GLI2	P10070	p.Val369Ala	rs377454502	missense variant	-	NC_000002.12:g.120971987T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala370Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120971990C>T	NCI-TCGA
GLI2	P10070	p.Ala370Thr	rs199931941	missense variant	-	NC_000002.12:g.120971989G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys373Asn	rs1199044920	missense variant	-	NC_000002.12:g.120972000G>C	TOPMed
GLI2	P10070	p.Arg374Cys	rs200076785	missense variant	-	NC_000002.12:g.120972001C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg374His	rs370220133	missense variant	-	NC_000002.12:g.120972002G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser375Gly	rs1361186300	missense variant	-	NC_000002.12:g.120972004A>G	gnomAD
GLI2	P10070	p.Thr379Asn	rs751294369	missense variant	-	NC_000002.12:g.120972017C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu380Ter	rs374155310	stop gained	-	NC_000002.12:g.120972019G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu380Gln	rs374155310	missense variant	-	NC_000002.12:g.120972019G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu380Lys	rs374155310	missense variant	-	NC_000002.12:g.120972019G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu382Gly	rs367665653	missense variant	-	NC_000002.12:g.120972026A>G	ESP,ExAC,gnomAD
GLI2	P10070	p.Gly383Asp	rs907487597	missense variant	-	NC_000002.12:g.120972029G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly383Val	rs907487597	missense variant	-	NC_000002.12:g.120972029G>T	TOPMed,gnomAD
GLI2	P10070	p.Arg385Leu	rs755928574	missense variant	-	NC_000002.12:g.120972035G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg385Trp	rs137925421	missense variant	-	NC_000002.12:g.120972034C>T	ESP,TOPMed
GLI2	P10070	p.Arg385Gln	rs755928574	missense variant	-	NC_000002.12:g.120972035G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro386Leu	rs757467621	missense variant	-	NC_000002.12:g.120972038C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro386Arg	rs757467621	missense variant	-	NC_000002.12:g.120972038C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro386Thr	rs188531549	missense variant	-	NC_000002.12:g.120972037C>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Pro386Ser	rs188531549	missense variant	-	NC_000002.12:g.120972037C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ala387Thr	rs745905276	missense variant	-	NC_000002.12:g.120972040G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala391Thr	rs140041523	missense variant	-	NC_000002.12:g.120972052G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala391Val	rs1452917426	missense variant	-	NC_000002.12:g.120972053C>T	gnomAD
GLI2	P10070	p.Leu392Val	rs747373831	missense variant	-	NC_000002.12:g.120972055C>G	ExAC,gnomAD
GLI2	P10070	p.Thr393Met	rs571690193	missense variant	-	NC_000002.12:g.120972059C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr393Ala	rs889635986	missense variant	-	NC_000002.12:g.120972058A>G	TOPMed,gnomAD
GLI2	P10070	p.Gly395Asp	rs201823427	missense variant	-	NC_000002.12:g.120974925G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val397Met	rs779618442	missense variant	-	NC_000002.12:g.120974930G>A	ExAC,gnomAD
GLI2	P10070	p.Val397Leu	rs779618442	missense variant	-	NC_000002.12:g.120974930G>T	ExAC,gnomAD
GLI2	P10070	p.Val397Gly	rs746470846	missense variant	-	NC_000002.12:g.120974931T>G	ExAC,gnomAD
GLI2	P10070	p.His400Asp	rs768456013	missense variant	-	NC_000002.12:g.120974939C>G	ExAC,gnomAD
GLI2	P10070	p.Gly401Arg	rs761748900	missense variant	-	NC_000002.12:g.120974942G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly401Ser	rs761748900	missense variant	-	NC_000002.12:g.120974942G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser402Leu	rs921806538	missense variant	-	NC_000002.12:g.120974946C>T	-
GLI2	P10070	p.Gly404Glu	rs1193676979	missense variant	-	NC_000002.12:g.120974952G>A	TOPMed,gnomAD
GLI2	P10070	p.Cys405Tyr	rs1447300845	missense variant	-	NC_000002.12:g.120974955G>A	gnomAD
GLI2	P10070	p.Ala406Pro	rs773093578	missense variant	-	NC_000002.12:g.120974957G>C	ExAC,gnomAD
GLI2	P10070	p.Leu409Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120974966C>A	NCI-TCGA
GLI2	P10070	p.Glu412Lys	rs1385470181	missense variant	-	NC_000002.12:g.120974975G>A	gnomAD
GLI2	P10070	p.Glu412Gly	rs774219521	missense variant	-	NC_000002.12:g.120974976A>G	TOPMed
GLI2	P10070	p.Gln413Pro	rs1007884555	missense variant	-	NC_000002.12:g.120974979A>C	TOPMed
GLI2	P10070	p.Leu414Val	rs762955703	missense variant	-	NC_000002.12:g.120974981C>G	ExAC,gnomAD
GLI2	P10070	p.Asp416His	rs766171973	missense variant	-	NC_000002.12:g.120974987G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp416Asn	rs766171973	missense variant	-	NC_000002.12:g.120974987G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys418Arg	rs751658121	missense variant	-	NC_000002.12:g.120974994A>G	ExAC,gnomAD
GLI2	P10070	p.Glu419Asp	rs767762452	missense variant	-	NC_000002.12:g.120974998A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp420His	rs752889300	missense variant	-	NC_000002.12:g.120974999G>C	ExAC,gnomAD
GLI2	P10070	p.Asp420Tyr	COSM3565899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120974999G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Asp422Gly	rs145528480	missense variant	-	NC_000002.12:g.120975006A>G	ESP,TOPMed
GLI2	P10070	p.Arg423Lys	rs576376100	missense variant	-	NC_000002.12:g.120975009G>A	gnomAD
GLI2	P10070	p.Asp424Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120975011G>A	NCI-TCGA
GLI2	P10070	p.Cys426Tyr	rs1463286358	missense variant	-	NC_000002.12:g.120975018G>A	gnomAD
GLI2	P10070	p.Lys427Glu	rs1282875351	missense variant	-	NC_000002.12:g.120975020A>G	TOPMed
GLI2	P10070	p.Glu429Asp	rs756492771	missense variant	-	NC_000002.12:g.120975028G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu429Lys	rs1454910951	missense variant	-	NC_000002.12:g.120975026G>A	gnomAD
GLI2	P10070	p.Glu431Gln	COSM418594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120975032G>C	NCI-TCGA Cosmic
GLI2	P10070	p.Val432Leu	rs142296407	missense variant	-	NC_000002.12:g.120975035G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val432Met	rs142296407	missense variant	-	NC_000002.12:g.120975035G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile434Ser	rs1242748019	missense variant	-	NC_000002.12:g.120975042T>G	gnomAD
GLI2	P10070	p.Ile434Thr	rs1242748019	missense variant	-	NC_000002.12:g.120975042T>C	gnomAD
GLI2	P10070	p.Tyr435Cys	rs759585885	missense variant	-	NC_000002.12:g.120975045A>G	TOPMed,gnomAD
GLI2	P10070	p.Glu436Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120975049G>T	NCI-TCGA
GLI2	P10070	p.Thr437Ala	rs1262532405	missense variant	-	NC_000002.12:g.120975050A>G	gnomAD
GLI2	P10070	p.Asn438Ser	rs757806597	missense variant	-	NC_000002.12:g.120975054A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn438Lys	rs140424202	missense variant	-	NC_000002.12:g.120975055C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn438Thr	rs757806597	missense variant	-	NC_000002.12:g.120975054A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Trp441Arg	rs992154166	missense variant	-	NC_000002.12:g.120975062T>C	TOPMed
GLI2	P10070	p.Asp443Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120975069A>G	NCI-TCGA
GLI2	P10070	p.Asp443Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120975068G>T	NCI-TCGA
GLI2	P10070	p.Asp443His	rs1175274916	missense variant	-	NC_000002.12:g.120975068G>C	TOPMed
GLI2	P10070	p.Thr445Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120975074A>G	NCI-TCGA
GLI2	P10070	p.Glu447Asp	rs1463431653	missense variant	-	NC_000002.12:g.120975082G>T	gnomAD
GLI2	P10070	p.Asp449Tyr	rs13427953	missense variant	-	NC_000002.12:g.120975086G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp449Asn	rs13427953	missense variant	-	NC_000002.12:g.120975086G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp449His	rs13427953	missense variant	-	NC_000002.12:g.120975086G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr450Ala	rs747836252	missense variant	-	NC_000002.12:g.120975089A>G	ExAC,gnomAD
GLI2	P10070	p.Glu452Asp	rs769266684	missense variant	-	NC_000002.12:g.120975097G>T	ExAC,gnomAD
GLI2	P10070	p.Leu454Val	rs1159158222	missense variant	-	NC_000002.12:g.120975101C>G	TOPMed,gnomAD
GLI2	P10070	p.His456Tyr	rs748984559	missense variant	-	NC_000002.12:g.120975107C>T	ExAC,gnomAD
GLI2	P10070	p.Glu461Lys	rs1192219672	missense variant	-	NC_000002.12:g.120978446G>A	TOPMed,gnomAD
GLI2	P10070	p.Ile463Val	rs750753215	missense variant	-	NC_000002.12:g.120978452A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His464Tyr	COSM3565901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120978455C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Gly465Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120978459G>A	NCI-TCGA
GLI2	P10070	p.Gly465Arg	rs547124108	missense variant	-	NC_000002.12:g.120978458G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly465Arg	rs547124108	missense variant	-	NC_000002.12:g.120978458G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu466Lys	rs755545613	missense variant	-	NC_000002.12:g.120978461G>A	ExAC,gnomAD
GLI2	P10070	p.Glu466Ter	COSM3565902	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.120978461G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Lys467Thr	rs777526546	missense variant	-	NC_000002.12:g.120978465A>C	ExAC,gnomAD
GLI2	P10070	p.Glu469Gln	COSM70908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120978470G>C	NCI-TCGA Cosmic
GLI2	P10070	p.Phe470Ser	rs1367454614	missense variant	-	NC_000002.12:g.120978474T>C	gnomAD
GLI2	P10070	p.Arg473His	rs150170739	missense variant	-	NC_000002.12:g.120978483G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg473Leu	rs150170739	missense variant	-	NC_000002.12:g.120978483G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg473Cys	rs370251398	missense variant	-	NC_000002.12:g.120978482C>T	ESP,ExAC,gnomAD
GLI2	P10070	p.Trp474Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120978487G>T	NCI-TCGA
GLI2	P10070	p.Ala476Pro	rs772017351	missense variant	-	NC_000002.12:g.120978491G>C	ExAC,gnomAD
GLI2	P10070	p.Ala476Ser	rs772017351	missense variant	-	NC_000002.12:g.120978491G>T	ExAC,gnomAD
GLI2	P10070	p.Thr478Met	rs565330468	missense variant	-	NC_000002.12:g.120978498C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Arg479Gln	rs762134904	missense variant	-	NC_000002.12:g.120978501G>A	ExAC,gnomAD
GLI2	P10070	p.Arg479Trp	rs121917708	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120978500C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg479Gly	rs121917708	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120978500C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg479Gly	rs121917708	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120978500C>G	UniProt,dbSNP
GLI2	P10070	p.Arg479Gly	VAR_032975	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120978500C>G	UniProt
GLI2	P10070	p.Gln481Arg	rs770087395	missense variant	-	NC_000002.12:g.120978507A>G	ExAC,gnomAD
GLI2	P10070	p.Lys482Thr	rs773737195	missense variant	-	NC_000002.12:g.120978510A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro483Thr	rs1036107866	missense variant	-	NC_000002.12:g.120978512C>A	TOPMed
GLI2	P10070	p.Ala486Val	rs767030770	missense variant	-	NC_000002.12:g.120978522C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu490Val	rs760286217	missense variant	-	NC_000002.12:g.120978533C>G	ExAC,gnomAD
GLI2	P10070	p.Val491Leu	rs1186982779	missense variant	-	NC_000002.12:g.120978536G>C	gnomAD
GLI2	P10070	p.His493Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120978543A>G	NCI-TCGA
GLI2	P10070	p.Met494Val	rs753321852	missense variant	-	NC_000002.12:g.120978545A>G	ExAC,gnomAD
GLI2	P10070	p.Arg495Trp	COSM3694849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120978548C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Arg496Gln	rs1413032761	missense variant	-	NC_000002.12:g.120978552G>A	TOPMed
GLI2	P10070	p.Thr498Met	rs894445064	missense variant	-	NC_000002.12:g.120978558C>T	TOPMed
GLI2	P10070	p.Glu500Lys	rs750260084	missense variant	-	NC_000002.12:g.120978563G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys501Arg	rs1431354607	missense variant	-	NC_000002.12:g.120978567A>G	TOPMed
GLI2	P10070	p.His503Arg	rs780098157	missense variant	-	NC_000002.12:g.120978573A>G	ExAC,gnomAD
GLI2	P10070	p.His503Asn	rs758168887	missense variant	-	NC_000002.12:g.120978572C>A	ExAC,gnomAD
GLI2	P10070	p.Thr506Met	rs764718032	missense variant	-	NC_000002.12:g.120978582C>T	ExAC,gnomAD
GLI2	P10070	p.Phe507Ser	COSM4938015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982717T>C	NCI-TCGA Cosmic
GLI2	P10070	p.Glu508Lys	rs781146798	missense variant	-	NC_000002.12:g.120982719G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu508Gln	rs781146798	missense variant	-	NC_000002.12:g.120982719G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly509Arg	rs756237921	missense variant	-	NC_000002.12:g.120982722G>C	ExAC,gnomAD
GLI2	P10070	p.Cys510Tyr	COSM3836702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982726G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Ser511Leu	rs372925840	missense variant	-	NC_000002.12:g.120982729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser511Trp	rs372925840	missense variant	-	NC_000002.12:g.120982729C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys512Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120982733G>T	NCI-TCGA
GLI2	P10070	p.Ala513Ser	rs774591307	missense variant	-	NC_000002.12:g.120982734G>T	ExAC,gnomAD
GLI2	P10070	p.Ser515Phe	COSM3565904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982741C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Arg516Ser	rs746195258	missense variant	-	NC_000002.12:g.120982743C>A	ExAC,TOPMed
GLI2	P10070	p.Arg516Pro	VAR_075214	Missense	Culler-Jones syndrome (CJS) [MIM:615849]	-	UniProt
GLI2	P10070	p.Lys521Gln	rs775943788	missense variant	-	NC_000002.12:g.120982758A>C	ExAC,gnomAD
GLI2	P10070	p.Arg525Gln	rs1335900744	missense variant	-	NC_000002.12:g.120982771G>A	TOPMed
GLI2	P10070	p.Arg525Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120982770C>T	NCI-TCGA
GLI2	P10070	p.Thr528Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120982780C>T	NCI-TCGA
GLI2	P10070	p.Gly529Arg	rs772643710	missense variant	-	NC_000002.12:g.120982782G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly529Arg	rs772643710	missense variant	-	NC_000002.12:g.120982782G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys531Thr	COSM1564836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982789A>C	NCI-TCGA Cosmic
GLI2	P10070	p.Pro532Ser	COSM1005995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982791C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Glu536Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120982803G>A	NCI-TCGA
GLI2	P10070	p.Glu538Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120982811G>T	NCI-TCGA
GLI2	P10070	p.Glu538Lys	rs896259039	missense variant	-	NC_000002.12:g.120982809G>A	gnomAD
GLI2	P10070	p.Lys542Thr	COSM4841070	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982822A>C	NCI-TCGA Cosmic
GLI2	P10070	p.Ala543Thr	rs267598855	missense variant	-	NC_000002.12:g.120982824G>A	ExAC,gnomAD
GLI2	P10070	p.Ala543Gly	rs201279367	missense variant	-	NC_000002.12:g.120982825C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala547Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120982837C>T	NCI-TCGA
GLI2	P10070	p.Ala547Thr	rs1436259584	missense variant	-	NC_000002.12:g.120982836G>A	TOPMed,gnomAD
GLI2	P10070	p.Ser548Leu	rs1418648944	missense variant	-	NC_000002.12:g.120982840C>T	gnomAD
GLI2	P10070	p.Asp549Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120982842G>A	NCI-TCGA
GLI2	P10070	p.Arg550Cys	rs564753456	missense variant	-	NC_000002.12:g.120982845C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Arg550His	rs1229340491	missense variant	-	NC_000002.12:g.120982846G>A	gnomAD
GLI2	P10070	p.Ala551Ser	rs1340215600	missense variant	-	NC_000002.12:g.120982848G>T	gnomAD
GLI2	P10070	p.His553Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120982856C>G	NCI-TCGA
GLI2	P10070	p.His553Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120982854C>G	NCI-TCGA
GLI2	P10070	p.Arg556Gly	COSM3797904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982863C>G	NCI-TCGA Cosmic
GLI2	P10070	p.Arg556Cys	COSM3565906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120982863C>T	NCI-TCGA Cosmic
GLI2	P10070	p.His558Gln	rs1346980944	missense variant	-	NC_000002.12:g.120982871C>A	gnomAD
GLI2	P10070	p.Glu561Lys	rs772471844	missense variant	-	NC_000002.12:g.120982878G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu561Gln	rs772471844	missense variant	-	NC_000002.12:g.120982878G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro563Leu	rs771789679	missense variant	-	NC_000002.12:g.120984475C>T	ExAC,gnomAD
GLI2	P10070	p.Tyr564Cys	rs775446679	missense variant	-	NC_000002.12:g.120984478A>G	ExAC,gnomAD
GLI2	P10070	p.Tyr564Asp	rs1015526827	missense variant	-	NC_000002.12:g.120984477T>G	TOPMed
GLI2	P10070	p.Ile565Leu	rs1185122714	missense variant	-	NC_000002.12:g.120984480A>C	TOPMed
GLI2	P10070	p.Lys567Arg	rs182118157	missense variant	-	NC_000002.12:g.120984487A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ile568Asn	rs761866843	missense variant	-	NC_000002.12:g.120984490T>A	ExAC,gnomAD
GLI2	P10070	p.Gly570Ala	rs765365609	missense variant	-	NC_000002.12:g.120984496G>C	ExAC,gnomAD
GLI2	P10070	p.Thr572Ile	rs758642577	missense variant	-	NC_000002.12:g.120984502C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr575Cys	COSM1005996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120984511A>G	NCI-TCGA Cosmic
GLI2	P10070	p.Pro578Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120984520C>T	NCI-TCGA
GLI2	P10070	p.Arg582Trp	rs1158908764	missense variant	-	NC_000002.12:g.120984531C>T	gnomAD
GLI2	P10070	p.His584Asn	COSM716019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120984537C>A	NCI-TCGA Cosmic
GLI2	P10070	p.Thr587Met	rs202040905	missense variant	-	NC_000002.12:g.120984547C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly590Ser	rs765300859	missense variant	-	NC_000002.12:g.120984555G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly590Asp	rs372990380	missense variant	-	NC_000002.12:g.120984556G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly590Cys	COSM475853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120984555G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Pro591Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120984558C>T	NCI-TCGA
GLI2	P10070	p.Asp592Asn	rs533664830	missense variant	-	NC_000002.12:g.120984561G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.His594Tyr	rs775250023	missense variant	-	NC_000002.12:g.120984567C>T	ExAC,gnomAD
GLI2	P10070	p.Val595Ile	rs768557650	missense variant	-	NC_000002.12:g.120984570G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys597ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120984574C>-	NCI-TCGA
GLI2	P10070	p.Arg600His	rs762992052	missense variant	-	NC_000002.12:g.120984586G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg600Cys	rs113407742	missense variant	-	NC_000002.12:g.120984585C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg600Leu	rs762992052	missense variant	-	NC_000002.12:g.120984586G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn601Ser	rs61732851	missense variant	-	NC_000002.12:g.120984589A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn601Asp	rs766641925	missense variant	-	NC_000002.12:g.120984588A>G	ExAC,gnomAD
GLI2	P10070	p.Asp602Gly	rs755399491	missense variant	-	NC_000002.12:g.120984592A>G	ExAC,gnomAD
GLI2	P10070	p.Val603Met	rs752945007	missense variant	-	NC_000002.12:g.120984594G>A	ExAC,gnomAD
GLI2	P10070	p.Val603Gly	rs1413894701	missense variant	-	NC_000002.12:g.120984595T>G	TOPMed
GLI2	P10070	p.His604Pro	rs756664261	missense variant	-	NC_000002.12:g.120984598A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg606Pro	rs745409561	missense variant	-	NC_000002.12:g.120984604G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg606His	rs745409561	missense variant	-	NC_000002.12:g.120984604G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg606Cys	rs778101215	missense variant	-	NC_000002.12:g.120984603C>T	ExAC,gnomAD
GLI2	P10070	p.Thr607Pro	rs1242087899	missense variant	-	NC_000002.12:g.120984606A>C	TOPMed
GLI2	P10070	p.Pro608Ala	rs779910601	missense variant	-	NC_000002.12:g.120984609C>G	ExAC,gnomAD
GLI2	P10070	p.Pro608Thr	rs779910601	missense variant	-	NC_000002.12:g.120984609C>A	ExAC,gnomAD
GLI2	P10070	p.Pro608Gln	rs149800897	missense variant	-	NC_000002.12:g.120984610C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro608Leu	rs149800897	missense variant	-	NC_000002.12:g.120984610C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu610Phe	rs1232903310	missense variant	-	NC_000002.12:g.120984615C>T	TOPMed
GLI2	P10070	p.Lys611Arg	rs769812935	missense variant	-	NC_000002.12:g.120984619A>G	ExAC,gnomAD
GLI2	P10070	p.Glu612Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120984621G>A	NCI-TCGA
GLI2	P10070	p.Glu612Asp	rs1276324238	missense variant	-	NC_000002.12:g.120984623G>C	gnomAD
GLI2	P10070	p.Asn613Ser	rs537396771	missense variant	-	NC_000002.12:g.120984625A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Gly614Arg	rs1203779849	missense variant	-	NC_000002.12:g.120984627G>A	TOPMed,gnomAD
GLI2	P10070	p.Asp615Asn	rs1314964125	missense variant	-	NC_000002.12:g.120984630G>A	TOPMed
GLI2	P10070	p.Ser616Ile	rs1250165393	missense variant	-	NC_000002.12:g.120984634G>T	TOPMed,gnomAD
GLI2	P10070	p.Ala618Val	rs763082072	missense variant	-	NC_000002.12:g.120984640C>T	ExAC,gnomAD
GLI2	P10070	p.Gly619Cys	rs377568773	missense variant	-	NC_000002.12:g.120984642G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly619Ser	rs377568773	missense variant	-	NC_000002.12:g.120984642G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly619Arg	rs377568773	missense variant	-	NC_000002.12:g.120984642G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly619Asp	rs1041659064	missense variant	-	NC_000002.12:g.120984643G>A	TOPMed,gnomAD
GLI2	P10070	p.Thr620Met	rs142775128	missense variant	-	NC_000002.12:g.120984646C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly624Ser	rs754383625	missense variant	-	NC_000002.12:g.120984657G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly624Arg	rs754383625	missense variant	-	NC_000002.12:g.120984657G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro625Arg	rs1459325913	missense variant	-	NC_000002.12:g.120984661C>G	gnomAD
GLI2	P10070	p.Pro625Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120984661C>T	NCI-TCGA
GLI2	P10070	p.Ser627Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120984667G>A	NCI-TCGA
GLI2	P10070	p.Thr628Pro	rs1419408866	missense variant	-	NC_000002.12:g.120984669A>C	TOPMed
GLI2	P10070	p.Glu629Lys	rs387907277	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120984672G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu629Asp	rs535733917	missense variant	-	NC_000002.12:g.120984674G>C	1000Genomes
GLI2	P10070	p.Ser631Asn	rs1365428947	missense variant	-	NC_000002.12:g.120984679G>A	gnomAD
GLI2	P10070	p.Ser632Arg	rs1292764721	missense variant	-	NC_000002.12:g.120984683C>G	TOPMed,gnomAD
GLI2	P10070	p.Thr633Ile	rs1251531492	missense variant	-	NC_000002.12:g.120984685C>T	TOPMed
GLI2	P10070	p.Ser634Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120984688G>T	NCI-TCGA
GLI2	P10070	p.Gln635Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120984691A>T	NCI-TCGA
GLI2	P10070	p.Ala636Pro	rs1213243722	missense variant	-	NC_000002.12:g.120984693G>C	TOPMed
GLI2	P10070	p.Val637Met	rs181235976	missense variant	-	NC_000002.12:g.120984696G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu638Lys	rs748026927	missense variant	-	NC_000002.12:g.120984699G>A	ExAC,gnomAD
GLI2	P10070	p.Val643Ile	rs773204708	missense variant	-	NC_000002.12:g.120984714G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg644Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120984718G>C	NCI-TCGA
GLI2	P10070	p.Glu649Lys	rs375115603	missense variant	-	NC_000002.12:g.120984732G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly652Arg	rs199958307	missense variant	-	NC_000002.12:g.120984741G>A	1000Genomes,ESP,ExAC,gnomAD
GLI2	P10070	p.Leu653Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120986278C>A	NCI-TCGA
GLI2	P10070	p.Leu653Pro	rs1373160690	missense variant	-	NC_000002.12:g.120986279T>C	gnomAD
GLI2	P10070	p.Cys654Tyr	rs1431089381	missense variant	-	NC_000002.12:g.120986282G>A	gnomAD
GLI2	P10070	p.Ser656Tyr	rs954972933	missense variant	-	NC_000002.12:g.120986288C>A	gnomAD
GLI2	P10070	p.Ser656Phe	rs954972933	missense variant	-	NC_000002.12:g.120986288C>T	gnomAD
GLI2	P10070	p.Gly659Val	rs1276922692	missense variant	-	NC_000002.12:g.120986297G>T	gnomAD
GLI2	P10070	p.Gly659Arg	rs777362312	missense variant	-	NC_000002.12:g.120986296G>A	ExAC,gnomAD
GLI2	P10070	p.Ala660Thr	rs757022100	missense variant	-	NC_000002.12:g.120986299G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala660Val	rs1301524384	missense variant	-	NC_000002.12:g.120986300C>T	gnomAD
GLI2	P10070	p.Ala660Ser	rs757022100	missense variant	-	NC_000002.12:g.120986299G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser662Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120986305T>A	NCI-TCGA
GLI2	P10070	p.Ser662Leu	rs747870569	missense variant	-	NC_000002.12:g.120986306C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser665Gly	rs561810561	missense variant	-	NC_000002.12:g.120986314A>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser665Asn	rs1248168877	missense variant	-	NC_000002.12:g.120986315G>A	gnomAD
GLI2	P10070	p.Ser666Thr	rs747072723	missense variant	-	NC_000002.12:g.120986318G>C	ExAC,gnomAD
GLI2	P10070	p.Glu667Lys	rs776972968	missense variant	-	NC_000002.12:g.120986320G>A	ExAC,gnomAD
GLI2	P10070	p.Pro668Leu	rs183782085	missense variant	-	NC_000002.12:g.120986324C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Gly672Ser	rs565657070	missense variant	-	NC_000002.12:g.120986335G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ala674Val	rs773562626	missense variant	-	NC_000002.12:g.120986342C>T	ExAC,gnomAD
GLI2	P10070	p.Ala674Thr	rs1474671936	missense variant	-	NC_000002.12:g.120986341G>A	gnomAD
GLI2	P10070	p.Ala674Asp	rs773562626	missense variant	-	NC_000002.12:g.120986342C>A	ExAC,gnomAD
GLI2	P10070	p.Pro675Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120986345C>T	NCI-TCGA
GLI2	P10070	p.Pro675Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120986344C>T	NCI-TCGA
GLI2	P10070	p.Asp678Val	rs1325951662	missense variant	-	NC_000002.12:g.120986354A>T	gnomAD
GLI2	P10070	p.Ser679Asn	rs1350901508	missense variant	-	NC_000002.12:g.120986357G>A	gnomAD
GLI2	P10070	p.Val681Leu	rs551617843	missense variant	-	NC_000002.12:g.120986362G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val681Met	rs551617843	missense variant	-	NC_000002.12:g.120986362G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met683Leu	rs1409163041	missense variant	-	NC_000002.12:g.120986368A>T	TOPMed
GLI2	P10070	p.Met683Val	rs1409163041	missense variant	-	NC_000002.12:g.120986368A>G	TOPMed
GLI2	P10070	p.Pro684Ser	rs760198344	missense variant	-	NC_000002.12:g.120986371C>T	ExAC
GLI2	P10070	p.Pro684Leu	rs373968370	missense variant	-	NC_000002.12:g.120986372C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly685Arg	rs757109745	missense variant	-	NC_000002.12:g.120986374G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly685Glu	rs772786172	missense variant	-	NC_000002.12:g.120986375G>A	ExAC,gnomAD
GLI2	P10070	p.Thr686Ser	rs750174908	missense variant	-	NC_000002.12:g.120986377A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr686Met	rs758298657	missense variant	-	NC_000002.12:g.120986378C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly687Arg	rs979174780	missense variant	-	NC_000002.12:g.120986380G>A	TOPMed
GLI2	P10070	p.Gly689Glu	rs368605892	missense variant	-	NC_000002.12:g.120986387G>A	ESP,TOPMed
GLI2	P10070	p.Gly689Arg	rs748390167	missense variant	-	NC_000002.12:g.120986386G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser690AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120986383C>-	NCI-TCGA
GLI2	P10070	p.Leu691Pro	rs770087477	missense variant	-	NC_000002.12:g.120986393T>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly692Arg	rs1205827042	missense variant	-	NC_000002.12:g.120986395G>C	TOPMed
GLI2	P10070	p.Thr695Lys	rs150858529	missense variant	-	NC_000002.12:g.120986405C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr695Met	rs150858529	missense variant	-	NC_000002.12:g.120986405C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp698Val	rs776052132	missense variant	-	NC_000002.12:g.120986414A>T	ExAC,gnomAD
GLI2	P10070	p.Asp698Asn	rs763588841	missense variant	-	NC_000002.12:g.120986413G>A	ExAC,gnomAD
GLI2	P10070	p.Thr700Ser	rs1445451224	missense variant	-	NC_000002.12:g.120986419A>T	TOPMed
GLI2	P10070	p.Pro702Ala	rs370752192	missense variant	-	NC_000002.12:g.120986425C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro702Gln	rs764830136	missense variant	-	NC_000002.12:g.120986426C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly703Glu	rs750226645	missense variant	-	NC_000002.12:g.120986429G>A	ExAC,gnomAD
GLI2	P10070	p.Ala704Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120986431G>A	NCI-TCGA
GLI2	P10070	p.Asp705Asn	rs751513015	missense variant	-	NC_000002.12:g.120986434G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr706Ile	rs754899023	missense variant	-	NC_000002.12:g.120986438C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala708Val	COSM4084555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120986444C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Leu709Arg	rs781438228	missense variant	-	NC_000002.12:g.120986447T>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu709Pro	rs781438228	missense variant	-	NC_000002.12:g.120986447T>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala710Val	rs996301662	missense variant	-	NC_000002.12:g.120986450C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala710Gly	rs996301662	missense variant	-	NC_000002.12:g.120986450C>G	TOPMed,gnomAD
GLI2	P10070	p.Ala711Val	COSM1005998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120986453C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ala714Thr	rs553780090	missense variant	-	NC_000002.12:g.120986461G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly715Asp	rs749660142	missense variant	-	NC_000002.12:g.120986465G>A	ExAC,gnomAD
GLI2	P10070	p.Gly716Ser	rs771311031	missense variant	-	NC_000002.12:g.120986467G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly716Val	rs774785340	missense variant	-	NC_000002.12:g.120986468G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg720His	rs149091975	missense variant	-	NC_000002.12:g.120986480G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg720Ser	rs773976966	missense variant	-	NC_000002.12:g.120986479C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg720Cys	rs773976966	missense variant	-	NC_000002.12:g.120986479C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His722Arg	rs993816030	missense variant	-	NC_000002.12:g.120986486A>G	TOPMed,gnomAD
GLI2	P10070	p.Met723Ile	rs987095648	missense variant	-	NC_000002.12:g.120986490G>A	gnomAD
GLI2	P10070	p.Met723Arg	rs761281400	missense variant	-	NC_000002.12:g.120986489T>G	ExAC,gnomAD
GLI2	P10070	p.Met723Lys	rs761281400	missense variant	-	NC_000002.12:g.120986489T>A	ExAC,gnomAD
GLI2	P10070	p.Thr724Ala	rs772907056	missense variant	-	NC_000002.12:g.120986491A>G	ExAC,gnomAD
GLI2	P10070	p.His727Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120986502C>G	NCI-TCGA
GLI2	P10070	p.Arg728Gln	rs368549881	missense variant	-	NC_000002.12:g.120986504G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg728Trp	rs1397888063	missense variant	-	NC_000002.12:g.120986503C>T	TOPMed,gnomAD
GLI2	P10070	p.Phe729Leu	rs151179617	missense variant	-	NC_000002.12:g.120986508C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Phe729Leu	rs151179617	missense variant	-	NC_000002.12:g.120986508C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu730Lys	rs752860949	missense variant	-	NC_000002.12:g.120986509G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys733Asn	rs962236027	missense variant	-	NC_000002.12:g.120986520G>T	gnomAD
GLI2	P10070	p.Lys734ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120986520G>-	NCI-TCGA
GLI2	P10070	p.Glu735Lys	rs756237933	missense variant	-	NC_000002.12:g.120986524G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys736Arg	rs777912692	missense variant	-	NC_000002.12:g.120986528A>G	ExAC,gnomAD
GLI2	P10070	p.Lys736Asn	rs754084344	missense variant	-	NC_000002.12:g.120986529G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys738Arg	rs1278646106	missense variant	-	NC_000002.12:g.120986534A>G	TOPMed,gnomAD
GLI2	P10070	p.Lys738Asn	rs371352201	missense variant	-	NC_000002.12:g.120986535G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser739Thr	rs746181717	missense variant	-	NC_000002.12:g.120986536T>A	ExAC,gnomAD
GLI2	P10070	p.Asp742Asn	rs1473144103	missense variant	-	NC_000002.12:g.120986545G>A	gnomAD
GLI2	P10070	p.Ser743Phe	rs1181480957	missense variant	-	NC_000002.12:g.120986549C>T	TOPMed,gnomAD
GLI2	P10070	p.Ser745Leu	rs780517633	missense variant	-	NC_000002.12:g.120986555C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Trp746Arg	rs1467722206	missense variant	-	NC_000002.12:g.120986557T>A	gnomAD
GLI2	P10070	p.Ala747Val	rs1173236992	missense variant	-	NC_000002.12:g.120986561C>T	gnomAD
GLI2	P10070	p.Gly748Arg	rs146944207	missense variant	-	NC_000002.12:g.120986563G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly748Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120986563G>T	NCI-TCGA
GLI2	P10070	p.Pro749Leu	rs772532094	missense variant	-	NC_000002.12:g.120986567C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro749Gln	rs772532094	missense variant	-	NC_000002.12:g.120986567C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His752Gln	rs767609239	missense variant	-	NC_000002.12:g.120986577C>A	ExAC,gnomAD
GLI2	P10070	p.His752Tyr	rs759370412	missense variant	-	NC_000002.12:g.120986575C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr753Met	rs1296344698	missense variant	-	NC_000002.12:g.120986579C>T	TOPMed
GLI2	P10070	p.Arg754Trp	rs138932004	missense variant	-	NC_000002.12:g.120986581C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg754Gln	rs144782119	missense variant	-	NC_000002.12:g.120986582G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg754Pro	rs144782119	missense variant	-	NC_000002.12:g.120986582G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn755Lys	rs904385464	missense variant	-	NC_000002.12:g.120986586C>G	TOPMed
GLI2	P10070	p.Asn755Thr	rs375221639	missense variant	-	NC_000002.12:g.120986585A>C	ESP
GLI2	P10070	p.Leu758Val	rs758750566	missense variant	-	NC_000002.12:g.120986593C>G	ExAC
GLI2	P10070	p.Pro759His	rs1195601372	missense variant	-	NC_000002.12:g.120986597C>A	gnomAD
GLI2	P10070	p.Leu761Val	rs1435272545	missense variant	-	NC_000002.12:g.120986602C>G	TOPMed,gnomAD
GLI2	P10070	p.Leu761Phe	rs1435272545	missense variant	-	NC_000002.12:g.120986602C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro762Leu	rs369835105	missense variant	-	NC_000002.12:g.120986606C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly763Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120986608G>A	NCI-TCGA
GLI2	P10070	p.Gly765Ala	rs756712721	missense variant	-	NC_000002.12:g.120988208G>C	ExAC,gnomAD
GLI2	P10070	p.Gly765Ser	rs374074240	missense variant	-	NC_000002.12:g.120986614G>A	ESP
GLI2	P10070	p.Ser766Tyr	rs778778635	missense variant	-	NC_000002.12:g.120988211C>A	ExAC,gnomAD
GLI2	P10070	p.Ser766Phe	COSM3565910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120988211C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ile767Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120988215C>G	NCI-TCGA
GLI2	P10070	p.Leu768Pro	rs973224338	missense variant	-	NC_000002.12:g.120988217T>C	TOPMed,gnomAD
GLI2	P10070	p.Phe771Cys	rs1181629972	missense variant	-	NC_000002.12:g.120988226T>G	TOPMed,gnomAD
GLI2	P10070	p.Phe771Val	rs1188395609	missense variant	-	NC_000002.12:g.120988225T>G	gnomAD
GLI2	P10070	p.Phe771Leu	rs1416979318	missense variant	-	NC_000002.12:g.120988227C>A	TOPMed,gnomAD
GLI2	P10070	p.Ser772Ile	rs746742181	missense variant	-	NC_000002.12:g.120988229G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser772Thr	rs746742181	missense variant	-	NC_000002.12:g.120988229G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly773Asp	rs886054812	missense variant	-	NC_000002.12:g.120988232G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly773Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120988231G>A	NCI-TCGA
GLI2	P10070	p.Ser774Arg	rs553560055	missense variant	-	NC_000002.12:g.120988236T>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly775Trp	rs369823940	missense variant	-	NC_000002.12:g.120988237G>T	ESP,TOPMed,gnomAD
GLI2	P10070	p.Gly775Arg	rs369823940	missense variant	-	NC_000002.12:g.120988237G>A	ESP,TOPMed,gnomAD
GLI2	P10070	p.Gly775Arg	rs369823940	missense variant	-	NC_000002.12:g.120988237G>C	ESP,TOPMed,gnomAD
GLI2	P10070	p.Gly776Ser	rs776418663	missense variant	-	NC_000002.12:g.120988240G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly776Ala	rs762017804	missense variant	-	NC_000002.12:g.120988241G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly776Asp	rs762017804	missense variant	-	NC_000002.12:g.120988241G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly777Ser	rs1293213627	missense variant	-	NC_000002.12:g.120988243G>A	gnomAD
GLI2	P10070	p.Gly777Ala	rs1201848239	missense variant	-	NC_000002.12:g.120988244G>C	TOPMed
GLI2	P10070	p.Gly778Arg	COSM3565912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120988246G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Pro779Ser	rs773216992	missense variant	-	NC_000002.12:g.120988249C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala780Val	rs374016746	missense variant	-	NC_000002.12:g.120988253C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly781Glu	rs766544216	missense variant	-	NC_000002.12:g.120988256G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro784Leu	rs376132749	missense variant	-	NC_000002.12:g.120988265C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro784Arg	rs376132749	missense variant	-	NC_000002.12:g.120988265C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn785Ser	rs768131638	missense variant	-	NC_000002.12:g.120988268A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn785Ile	rs768131638	missense variant	-	NC_000002.12:g.120988268A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn785His	rs1408296694	missense variant	-	NC_000002.12:g.120988267A>C	gnomAD
GLI2	P10070	p.Pro786Thr	rs1047100315	missense variant	-	NC_000002.12:g.120988270C>A	TOPMed
GLI2	P10070	p.Arg787Trp	rs745323708	missense variant	-	NC_000002.12:g.120988273C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu788Arg	rs1328044438	missense variant	-	NC_000002.12:g.120988277T>G	gnomAD
GLI2	P10070	p.Ser789Leu	rs1374131711	missense variant	-	NC_000002.12:g.120988280C>T	gnomAD
GLI2	P10070	p.Ser792Ala	rs1334283315	missense variant	-	NC_000002.12:g.120988288T>G	TOPMed
GLI2	P10070	p.Ala793Val	rs965947206	missense variant	-	NC_000002.12:g.120988292C>T	TOPMed
GLI2	P10070	p.Ala793Ser	rs1372874550	missense variant	-	NC_000002.12:g.120988291G>T	gnomAD
GLI2	P10070	p.Ser794Ile	rs746880019	missense variant	-	NC_000002.12:g.120988295G>T	ExAC,gnomAD
GLI2	P10070	p.Glu795Lys	rs1406444413	missense variant	-	NC_000002.12:g.120988297G>A	TOPMed
GLI2	P10070	p.Val796Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120988300G>A	NCI-TCGA
GLI2	P10070	p.Val796Leu	rs926862203	missense variant	-	NC_000002.12:g.120988300G>T	TOPMed
GLI2	P10070	p.Thr797Ser	rs1348748256	missense variant	-	NC_000002.12:g.120988303A>T	gnomAD
GLI2	P10070	p.Met798Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120988307T>C	NCI-TCGA
GLI2	P10070	p.Met798Ile	rs1210211719	missense variant	-	NC_000002.12:g.120988308G>A	gnomAD
GLI2	P10070	p.Ser800Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120988313G>T	NCI-TCGA
GLI2	P10070	p.Leu802Val	rs780972974	missense variant	-	NC_000002.12:g.120988318C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln803Glu	rs1206377430	missense variant	-	NC_000002.12:g.120988321C>G	gnomAD
GLI2	P10070	p.Glu804Lys	rs1233177594	missense variant	-	NC_000002.12:g.120988324G>A	gnomAD
GLI2	P10070	p.Arg805Cys	rs748046557	missense variant	-	NC_000002.12:g.120988327C>T	ExAC,gnomAD
GLI2	P10070	p.Arg806Cys	rs769667439	missense variant	-	NC_000002.12:g.120988330C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg806Ser	rs769667439	missense variant	-	NC_000002.12:g.120988330C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg806His	rs1396488391	missense variant	-	NC_000002.12:g.120988331G>A	gnomAD
GLI2	P10070	p.Ser808Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120988336A>G	NCI-TCGA
GLI2	P10070	p.Thr812Met	rs773308985	missense variant	-	NC_000002.12:g.120988349C>T	ExAC,gnomAD
GLI2	P10070	p.Val813Ala	rs1053956460	missense variant	-	NC_000002.12:g.120988352T>C	TOPMed
GLI2	P10070	p.Ser815Leu	rs1026630572	missense variant	-	NC_000002.12:g.120988358C>T	gnomAD
GLI2	P10070	p.Ala816Ser	rs767780220	missense variant	-	NC_000002.12:g.120988360G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr817Phe	rs1232291280	missense variant	-	NC_000002.12:g.120988364A>T	gnomAD
GLI2	P10070	p.Thr818Pro	rs538744794	missense variant	-	NC_000002.12:g.120988366A>C	1000Genomes
GLI2	P10070	p.Val819Met	rs985023327	missense variant	-	NC_000002.12:g.120988369G>A	gnomAD
GLI2	P10070	p.Arg821Cys	rs1346097498	missense variant	-	NC_000002.12:g.120988375C>T	gnomAD
GLI2	P10070	p.Arg821His	rs926369054	missense variant	-	NC_000002.12:g.120988376G>A	TOPMed,gnomAD
GLI2	P10070	p.Arg822Cys	rs1301269573	missense variant	-	NC_000002.12:g.120988378C>T	gnomAD
GLI2	P10070	p.Ser823Phe	rs764657013	missense variant	-	NC_000002.12:g.120988382C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser824Phe	rs749994693	missense variant	-	NC_000002.12:g.120988385C>T	ExAC,gnomAD
GLI2	P10070	p.Gly825Ser	rs1202144630	missense variant	-	NC_000002.12:g.120988387G>A	gnomAD
GLI2	P10070	p.Gly825Arg	rs1202144630	missense variant	-	NC_000002.12:g.120988387G>C	gnomAD
GLI2	P10070	p.Ser827Pro	rs779823281	missense variant	-	NC_000002.12:g.120988393T>C	ExAC,gnomAD
GLI2	P10070	p.Ser827Phe	rs1468595986	missense variant	-	NC_000002.12:g.120988394C>T	gnomAD
GLI2	P10070	p.Pro828Leu	rs1192465801	missense variant	-	NC_000002.12:g.120988397C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro828His	rs1192465801	missense variant	-	NC_000002.12:g.120988397C>A	TOPMed,gnomAD
GLI2	P10070	p.Phe830Leu	rs556743028	missense variant	-	NC_000002.12:g.120988402T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser831Pro	rs923124952	missense variant	-	NC_000002.12:g.120988405T>C	-
GLI2	P10070	p.Ser831Tyr	rs747895979	missense variant	-	NC_000002.12:g.120988406C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser831Phe	rs747895979	missense variant	-	NC_000002.12:g.120988406C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser832Cys	rs1395509691	missense variant	-	NC_000002.12:g.120988408A>T	gnomAD
GLI2	P10070	p.Arg834Cys	rs1440364367	missense variant	-	NC_000002.12:g.120988414C>T	gnomAD
GLI2	P10070	p.Ser835Cys	rs890137078	missense variant	-	NC_000002.12:g.120988418C>G	TOPMed
GLI2	P10070	p.Ser836Gly	rs769760611	missense variant	-	NC_000002.12:g.120988420A>G	ExAC,gnomAD
GLI2	P10070	p.Glu837Lys	rs193090538	missense variant	-	NC_000002.12:g.120988423G>A	1000Genomes,ESP,ExAC,gnomAD
GLI2	P10070	p.Ala838Ser	rs749423913	missense variant	-	NC_000002.12:g.120988426G>T	ExAC,gnomAD
GLI2	P10070	p.Ser839Leu	rs1338626267	missense variant	-	NC_000002.12:g.120988430C>T	gnomAD
GLI2	P10070	p.Pro840Ser	rs774425670	missense variant	-	NC_000002.12:g.120988432C>T	ExAC,gnomAD
GLI2	P10070	p.Leu841Met	rs759692739	missense variant	-	NC_000002.12:g.120988435C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly842Asp	rs772290292	missense variant	-	NC_000002.12:g.120988439G>A	ExAC,gnomAD
GLI2	P10070	p.Ala843Gly	rs1270859236	missense variant	-	NC_000002.12:g.120988442C>G	gnomAD
GLI2	P10070	p.Gly844Ser	rs1193224449	missense variant	-	NC_000002.12:g.120988444G>A	gnomAD
GLI2	P10070	p.Gly844Asp	rs1183604091	missense variant	-	NC_000002.12:g.120988445G>A	TOPMed
GLI2	P10070	p.Arg845Cys	rs1242068535	missense variant	-	NC_000002.12:g.120988447C>T	gnomAD
GLI2	P10070	p.Arg845Leu	rs1474680366	missense variant	-	NC_000002.12:g.120988448G>T	gnomAD
GLI2	P10070	p.Pro846Arg	rs761090665	missense variant	-	NC_000002.12:g.120988451C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro846Gln	rs761090665	missense variant	-	NC_000002.12:g.120988451C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro846Leu	rs761090665	missense variant	-	NC_000002.12:g.120988451C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His847Gln	rs1358202635	missense variant	-	NC_000002.12:g.120988455C>G	TOPMed
GLI2	P10070	p.Ala849Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120988459G>A	NCI-TCGA
GLI2	P10070	p.Ala849Pro	rs1461238960	missense variant	-	NC_000002.12:g.120988459G>C	gnomAD
GLI2	P10070	p.Ser851Phe	rs762343399	missense variant	-	NC_000002.12:g.120988466C>T	ExAC,gnomAD
GLI2	P10070	p.Ala852Thr	rs751028726	missense variant	-	NC_000002.12:g.120988468G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp853Ala	rs1398142924	missense variant	-	NC_000002.12:g.120988472A>C	gnomAD
GLI2	P10070	p.Ser854Tyr	rs767164238	missense variant	-	NC_000002.12:g.120988475C>A	ExAC,gnomAD
GLI2	P10070	p.Pro857Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120988484C>T	NCI-TCGA
GLI2	P10070	p.Pro857Arg	rs1301613918	missense variant	-	NC_000002.12:g.120988484C>G	TOPMed
GLI2	P10070	p.Thr860Met	rs1270918193	missense variant	-	NC_000002.12:g.120988493C>T	gnomAD
GLI2	P10070	p.Ala862Val	rs1444777353	missense variant	-	NC_000002.12:g.120988499C>T	gnomAD
GLI2	P10070	p.Ala862Thr	rs1042668856	missense variant	-	NC_000002.12:g.120988498G>A	gnomAD
GLI2	P10070	p.Gln871Arg	rs1167240389	missense variant	-	NC_000002.12:g.120988526A>G	TOPMed
GLI2	P10070	p.Ser873Asn	rs1475109864	missense variant	-	NC_000002.12:g.120988532G>A	gnomAD
GLI2	P10070	p.Gly874Ser	rs749232196	missense variant	-	NC_000002.12:g.120988534G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly874Cys	rs749232196	missense variant	-	NC_000002.12:g.120988534G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly874Asp	rs1470595019	missense variant	-	NC_000002.12:g.120988535G>A	gnomAD
GLI2	P10070	p.Gly875Ser	rs1382953991	missense variant	-	NC_000002.12:g.120988537G>A	gnomAD
GLI2	P10070	p.Gly877Arg	rs1375945140	missense variant	-	NC_000002.12:g.120988543G>A	gnomAD
GLI2	P10070	p.Leu879Pro	rs1239404153	missense variant	-	NC_000002.12:g.120988550T>C	gnomAD
GLI2	P10070	p.Leu879Phe	rs1337169378	missense variant	-	NC_000002.12:g.120988549C>T	gnomAD
GLI2	P10070	p.Asn880Lys	rs745923540	missense variant	-	NC_000002.12:g.120988554C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn880Ser	rs1278578252	missense variant	-	NC_000002.12:g.120988553A>G	gnomAD
GLI2	P10070	p.Thr882Ser	rs1332140763	missense variant	-	NC_000002.12:g.120988558A>T	gnomAD
GLI2	P10070	p.Pro883Ser	rs1235814751	missense variant	-	NC_000002.12:g.120988561C>T	gnomAD
GLI2	P10070	p.Pro883Leu	rs1488068671	missense variant	-	NC_000002.12:g.120988562C>T	TOPMed
GLI2	P10070	p.Ala884Glu	rs1485605591	missense variant	-	NC_000002.12:g.120988565C>A	TOPMed,gnomAD
GLI2	P10070	p.Ala884Val	rs1485605591	missense variant	-	NC_000002.12:g.120988565C>T	TOPMed,gnomAD
GLI2	P10070	p.Gln885His	rs1209198245	missense variant	-	NC_000002.12:g.120988569G>C	gnomAD
GLI2	P10070	p.Gln886Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.120988570C>T	NCI-TCGA
GLI2	P10070	p.Gln886Arg	rs1253185243	missense variant	-	NC_000002.12:g.120988571A>G	gnomAD
GLI2	P10070	p.Arg890Trp	rs775833166	missense variant	-	NC_000002.12:g.120988582C>T	ExAC,TOPMed
GLI2	P10070	p.Ala891Val	rs1362244568	missense variant	-	NC_000002.12:g.120988586C>T	gnomAD
GLI2	P10070	p.Tyr893Phe	rs908599831	missense variant	-	NC_000002.12:g.120988592A>T	TOPMed,gnomAD
GLI2	P10070	p.Ala895Pro	rs1174286833	missense variant	-	NC_000002.12:g.120988597G>C	gnomAD
GLI2	P10070	p.Ala896Val	rs1433952961	missense variant	-	NC_000002.12:g.120988601C>T	gnomAD
GLI2	P10070	p.Gly899Asp	rs777077274	missense variant	-	NC_000002.12:g.120988610G>A	ExAC
GLI2	P10070	p.Pro900Leu	rs762431434	missense variant	-	NC_000002.12:g.120988613C>T	ExAC,gnomAD
GLI2	P10070	p.Pro901Ser	rs1391739024	missense variant	-	NC_000002.12:g.120988615C>T	gnomAD
GLI2	P10070	p.Pro901Leu	rs765733921	missense variant	-	NC_000002.12:g.120988616C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro901Gln	rs765733921	missense variant	-	NC_000002.12:g.120988616C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr903Ser	rs572826436	missense variant	-	NC_000002.12:g.120988622C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro906Arg	rs759061834	missense variant	-	NC_000002.12:g.120988631C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro906Leu	rs759061834	missense variant	-	NC_000002.12:g.120988631C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro906Gln	rs759061834	missense variant	-	NC_000002.12:g.120988631C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly907Asp	rs1479419735	missense variant	-	NC_000002.12:g.120988634G>A	TOPMed
GLI2	P10070	p.Glu909Lys	rs1236605155	missense variant	-	NC_000002.12:g.120988639G>A	gnomAD
GLI2	P10070	p.Glu909Val	rs1237189963	missense variant	-	NC_000002.12:g.120988640A>T	TOPMed
GLI2	P10070	p.Arg910Gly	rs1342106193	missense variant	-	NC_000002.12:g.120988642C>G	TOPMed,gnomAD
GLI2	P10070	p.Arg910Cys	rs1342106193	missense variant	-	NC_000002.12:g.120988642C>T	TOPMed,gnomAD
GLI2	P10070	p.Arg910His	rs752338987	missense variant	-	NC_000002.12:g.120988643G>A	ExAC,gnomAD
GLI2	P10070	p.Met911Val	rs1194343331	missense variant	-	NC_000002.12:g.120988645A>G	TOPMed,gnomAD
GLI2	P10070	p.Met911Leu	rs1194343331	missense variant	-	NC_000002.12:g.120988645A>C	TOPMed,gnomAD
GLI2	P10070	p.Met911Ile	rs755701566	missense variant	-	NC_000002.12:g.120988647G>A	ExAC,gnomAD
GLI2	P10070	p.Ser912Ile	rs1452643743	missense variant	-	NC_000002.12:g.120988649G>T	gnomAD
GLI2	P10070	p.Arg914Gln	rs886054813	missense variant	-	NC_000002.12:g.120988655G>A	TOPMed,gnomAD
GLI2	P10070	p.Arg914Trp	rs763893593	missense variant	-	NC_000002.12:g.120988654C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr915Ser	rs753583106	missense variant	-	NC_000002.12:g.120988658C>G	ExAC,gnomAD
GLI2	P10070	p.Leu917Met	rs1397696400	missense variant	-	NC_000002.12:g.120988663C>A	gnomAD
GLI2	P10070	p.Ala918Glu	rs1442572039	missense variant	-	NC_000002.12:g.120988667C>A	gnomAD
GLI2	P10070	p.Leu919Pro	rs1369669579	missense variant	-	NC_000002.12:g.120988670T>C	gnomAD
GLI2	P10070	p.Leu920Pro	rs1372871540	missense variant	-	NC_000002.12:g.120988673T>C	TOPMed
GLI2	P10070	p.Ala922Gly	rs890177001	missense variant	-	NC_000002.12:g.120988679C>G	TOPMed
GLI2	P10070	p.Ala922Thr	rs1384533626	missense variant	-	NC_000002.12:g.120988678G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala922Val	rs890177001	missense variant	-	NC_000002.12:g.120988679C>T	TOPMed
GLI2	P10070	p.Pro923Leu	rs1359684308	missense variant	-	NC_000002.12:g.120988682C>T	TOPMed
GLI2	P10070	p.Glu924Gln	rs1177884230	missense variant	-	NC_000002.12:g.120988684G>C	TOPMed
GLI2	P10070	p.Arg925His	rs1227169920	missense variant	-	NC_000002.12:g.120988688G>A	TOPMed,gnomAD
GLI2	P10070	p.Arg925Leu	rs1227169920	missense variant	-	NC_000002.12:g.120988688G>T	TOPMed,gnomAD
GLI2	P10070	p.Pro928Leu	rs540126716	missense variant	-	NC_000002.12:g.120988697C>T	1000Genomes
GLI2	P10070	p.Pro928Thr	rs778880428	missense variant	-	NC_000002.12:g.120988696C>A	ExAC,gnomAD
GLI2	P10070	p.Ala929Thr	rs1214617362	missense variant	-	NC_000002.12:g.120988699G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly930Ser	rs1008980636	missense variant	-	NC_000002.12:g.120988702G>A	TOPMed
GLI2	P10070	p.Pro932Ser	rs1272759660	missense variant	-	NC_000002.12:g.120988708C>T	gnomAD
GLI2	P10070	p.Arg933His	rs1038692152	missense variant	-	NC_000002.12:g.120988712G>A	TOPMed,gnomAD
GLI2	P10070	p.Leu935Pro	rs1258360366	missense variant	-	NC_000002.12:g.120988718T>C	TOPMed
GLI2	P10070	p.Arg938Trp	rs900449843	missense variant	-	NC_000002.12:g.120988726C>T	TOPMed
GLI2	P10070	p.Arg939His	rs745984071	missense variant	-	NC_000002.12:g.120988730G>A	ExAC,gnomAD
GLI2	P10070	p.Ser941Arg	rs994748700	missense variant	-	NC_000002.12:g.120988737C>A	TOPMed,gnomAD
GLI2	P10070	p.Asp942Asn	rs1027551866	missense variant	-	NC_000002.12:g.120988738G>A	TOPMed
GLI2	P10070	p.Gly943Arg	rs1312020540	missense variant	-	NC_000002.12:g.120988741G>A	TOPMed
GLI2	P10070	p.Pro944Ser	rs950546253	missense variant	-	NC_000002.12:g.120988744C>T	TOPMed
GLI2	P10070	p.Thr945Ser	rs1004685361	missense variant	-	NC_000002.12:g.120988748C>G	TOPMed,gnomAD
GLI2	P10070	p.Thr945Ile	rs1004685361	missense variant	-	NC_000002.12:g.120988748C>T	TOPMed,gnomAD
GLI2	P10070	p.Tyr946Cys	rs1359706804	missense variant	-	NC_000002.12:g.120988751A>G	TOPMed
GLI2	P10070	p.Gly947Asp	rs1015690843	missense variant	-	NC_000002.12:g.120988754G>A	TOPMed,gnomAD
GLI2	P10070	p.His950Tyr	rs1421082927	missense variant	-	NC_000002.12:g.120988762C>T	TOPMed
GLI2	P10070	p.Ala951Thr	rs1383010786	missense variant	-	NC_000002.12:g.120988765G>A	TOPMed
GLI2	P10070	p.Gly952Ala	rs970835131	missense variant	-	NC_000002.12:g.120988769G>C	TOPMed,gnomAD
GLI2	P10070	p.Ala953Ser	rs1290055364	missense variant	-	NC_000002.12:g.120988771G>T	TOPMed,gnomAD
GLI2	P10070	p.Ala954Val	rs1258846094	missense variant	-	NC_000002.12:g.120988775C>T	TOPMed
GLI2	P10070	p.Ala956Thr	rs982555104	missense variant	-	NC_000002.12:g.120988780G>A	TOPMed,gnomAD
GLI2	P10070	p.His959Tyr	rs1382223174	missense variant	-	NC_000002.12:g.120988789C>T	TOPMed,gnomAD
GLI2	P10070	p.Glu960Lys	rs1276841941	missense variant	-	NC_000002.12:g.120988792G>A	gnomAD
GLI2	P10070	p.Ala961Val	rs1357813577	missense variant	-	NC_000002.12:g.120988796C>T	gnomAD
GLI2	P10070	p.Ala961Ser	rs1391715622	missense variant	-	NC_000002.12:g.120988795G>T	TOPMed,gnomAD
GLI2	P10070	p.Ala961Asp	rs1357813577	missense variant	-	NC_000002.12:g.120988796C>A	gnomAD
GLI2	P10070	p.Pro962Leu	rs1183656856	missense variant	-	NC_000002.12:g.120988799C>T	TOPMed
GLI2	P10070	p.Gly964Ser	rs532167984	missense variant	-	NC_000002.12:g.120988804G>A	1000Genomes,TOPMed,gnomAD
GLI2	P10070	p.Gly965Arg	rs1401689804	missense variant	-	NC_000002.12:g.120988807G>A	TOPMed
GLI2	P10070	p.Ala966Pro	rs758491909	missense variant	-	NC_000002.12:g.120988810G>C	ExAC,gnomAD
GLI2	P10070	p.Arg968Trp	rs780215367	missense variant	-	NC_000002.12:g.120988816C>T	ExAC,gnomAD
GLI2	P10070	p.Ala969Gly	rs1260890491	missense variant	-	NC_000002.12:g.120988820C>G	TOPMed,gnomAD
GLI2	P10070	p.Arg974Trp	rs1412636446	missense variant	-	NC_000002.12:g.120988834C>T	gnomAD
GLI2	P10070	p.Arg974Pro	rs376969137	missense variant	-	NC_000002.12:g.120988835G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg974Leu	rs376969137	missense variant	-	NC_000002.12:g.120988835G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg975Leu	rs1477746607	missense variant	-	NC_000002.12:g.120988838G>T	TOPMed
GLI2	P10070	p.Asp977Gly	rs1160835394	missense variant	-	NC_000002.12:g.120988844A>G	gnomAD
GLI2	P10070	p.Asp977Glu	rs1196293141	missense variant	-	NC_000002.12:g.120988845T>A	TOPMed
GLI2	P10070	p.Ala978Ser	rs1489978345	missense variant	-	NC_000002.12:g.120988846G>T	TOPMed
GLI2	P10070	p.Leu979Gln	rs959912590	missense variant	-	NC_000002.12:g.120988850T>A	TOPMed
GLI2	P10070	p.Ser980Tyr	rs1377757442	missense variant	-	NC_000002.12:g.120988853C>A	gnomAD
GLI2	P10070	p.Leu981Pro	rs1312594885	missense variant	-	NC_000002.12:g.120988856T>C	TOPMed,gnomAD
GLI2	P10070	p.Pro982Ser	rs945554487	missense variant	-	NC_000002.12:g.120988858C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro982Gln	rs770249989	missense variant	-	NC_000002.12:g.120988859C>A	ExAC,gnomAD
GLI2	P10070	p.Pro982Leu	rs770249989	missense variant	-	NC_000002.12:g.120988859C>T	ExAC,gnomAD
GLI2	P10070	p.Arg983Leu	rs978189731	missense variant	-	NC_000002.12:g.120988862G>T	TOPMed,gnomAD
GLI2	P10070	p.Arg983Pro	rs978189731	missense variant	-	NC_000002.12:g.120988862G>C	TOPMed,gnomAD
GLI2	P10070	p.Val984Met	rs1283824297	missense variant	-	NC_000002.12:g.120988864G>A	gnomAD
GLI2	P10070	p.Gln985Ter	rs1486577626	stop gained	-	NC_000002.12:g.120988867C>T	gnomAD
GLI2	P10070	p.Arg986His	rs773752490	missense variant	-	NC_000002.12:g.120988871G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg986Cys	rs911667474	missense variant	-	NC_000002.12:g.120988870C>T	TOPMed
GLI2	P10070	p.Arg986Pro	rs773752490	missense variant	-	NC_000002.12:g.120988871G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His991Tyr	rs1482145486	missense variant	-	NC_000002.12:g.120988885C>T	gnomAD
GLI2	P10070	p.Val993Met	rs767022377	missense variant	-	NC_000002.12:g.120988891G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn994Lys	rs1438576682	missense variant	-	NC_000002.12:g.120988896C>A	TOPMed,gnomAD
GLI2	P10070	p.Pro995Ser	rs1039136345	missense variant	-	NC_000002.12:g.120988897C>T	TOPMed
GLI2	P10070	p.Gly996Arg	rs1259431717	missense variant	-	NC_000002.12:g.120988900G>C	gnomAD
GLI2	P10070	p.Gly996Asp	rs1397447428	missense variant	-	NC_000002.12:g.120988901G>A	gnomAD
GLI2	P10070	p.Pro997Arg	rs563818052	missense variant	-	NC_000002.12:g.120988904C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro997Leu	rs563818052	missense variant	-	NC_000002.12:g.120988904C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro997Ala	rs1173561321	missense variant	-	NC_000002.12:g.120988903C>G	gnomAD
GLI2	P10070	p.Leu998Pro	rs1298989652	missense variant	-	NC_000002.12:g.120988907T>C	gnomAD
GLI2	P10070	p.Leu998Val	rs1194362558	missense variant	-	NC_000002.12:g.120988906C>G	gnomAD
GLI2	P10070	p.Pro999Leu	rs1444670785	missense variant	-	NC_000002.12:g.120988910C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro1000Ser	rs1258599727	missense variant	-	NC_000002.12:g.120988912C>T	TOPMed
GLI2	P10070	p.Pro1000Leu	rs1348680961	missense variant	-	NC_000002.12:g.120988913C>T	gnomAD
GLI2	P10070	p.Cys1001Ser	rs1310260977	missense variant	-	NC_000002.12:g.120988916G>C	gnomAD
GLI2	P10070	p.Cys1001Arg	rs1277802826	missense variant	-	NC_000002.12:g.120988915T>C	gnomAD
GLI2	P10070	p.Ala1002Thr	rs1206309646	missense variant	-	NC_000002.12:g.120988918G>A	gnomAD
GLI2	P10070	p.Asp1003Glu	rs760345085	missense variant	-	NC_000002.12:g.120988923C>G	ExAC,gnomAD
GLI2	P10070	p.Asp1003Tyr	rs1233125074	missense variant	-	NC_000002.12:g.120988921G>T	gnomAD
GLI2	P10070	p.Asp1003Ala	rs930268229	missense variant	-	NC_000002.12:g.120988922A>C	TOPMed,gnomAD
GLI2	P10070	p.Asp1003Asn	rs1233125074	missense variant	-	NC_000002.12:g.120988921G>A	gnomAD
GLI2	P10070	p.Arg1004Ser	rs1049016244	missense variant	-	NC_000002.12:g.120988926G>C	TOPMed
GLI2	P10070	p.Gly1006Arg	rs763699269	missense variant	-	NC_000002.12:g.120988930G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1008Ser	rs761649381	missense variant	-	NC_000002.12:g.120988936C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1008Leu	rs1445373669	missense variant	-	NC_000002.12:g.120988937G>T	TOPMed
GLI2	P10070	p.Arg1008Cys	rs761649381	missense variant	-	NC_000002.12:g.120988936C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1010Ter	rs1412017270	stop gained	-	NC_000002.12:g.120988942C>T	gnomAD
GLI2	P10070	p.Ser1011Asn	rs1400437764	missense variant	-	NC_000002.12:g.120988946G>A	TOPMed
GLI2	P10070	p.Pro1013Arg	rs780303555	missense variant	-	NC_000002.12:g.120988952C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1013Leu	rs780303555	missense variant	-	NC_000002.12:g.120988952C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1014Asn	rs1440223587	missense variant	-	NC_000002.12:g.120988955G>A	gnomAD
GLI2	P10070	p.Asp1016Asn	rs1365347989	missense variant	-	NC_000002.12:g.120988960G>A	gnomAD
GLI2	P10070	p.Gly1017Asp	rs781540070	missense variant	-	NC_000002.12:g.120988964G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1018Ser	rs1317069719	missense variant	-	NC_000002.12:g.120988966G>A	gnomAD
GLI2	P10070	p.Ala1020Val	rs1274644562	missense variant	-	NC_000002.12:g.120988973C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala1020Pro	rs567643693	missense variant	-	NC_000002.12:g.120988972G>C	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Arg1021His	rs749819734	missense variant	-	NC_000002.12:g.120988976G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1021Cys	rs777929230	missense variant	-	NC_000002.12:g.120988975C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1022Ser	rs1476635342	missense variant	-	NC_000002.12:g.120988978G>A	gnomAD
GLI2	P10070	p.Ala1023Thr	rs771381877	missense variant	-	NC_000002.12:g.120988981G>A	ExAC,gnomAD
GLI2	P10070	p.Tyr1024Cys	rs1477028869	missense variant	-	NC_000002.12:g.120988985A>G	gnomAD
GLI2	P10070	p.Ser1025Ala	rs1200806790	missense variant	-	NC_000002.12:g.120988987T>G	TOPMed
GLI2	P10070	p.Ser1025Leu	rs936860529	missense variant	-	NC_000002.12:g.120988988C>T	gnomAD
GLI2	P10070	p.Arg1027Gln	rs531385991	missense variant	-	NC_000002.12:g.120988994G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1027Trp	rs1404870952	missense variant	-	NC_000002.12:g.120988993C>T	gnomAD
GLI2	P10070	p.Pro1028Thr	rs776334630	missense variant	-	NC_000002.12:g.120988996C>A	ExAC,gnomAD
GLI2	P10070	p.Pro1028Ala	rs776334630	missense variant	-	NC_000002.12:g.120988996C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1029Leu	rs765093621	missense variant	-	NC_000002.12:g.120989000C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1029Ser	rs761580748	missense variant	-	NC_000002.12:g.120988999C>T	ExAC,gnomAD
GLI2	P10070	p.Ile1031Val	rs750136710	missense variant	-	NC_000002.12:g.120989005A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1032Arg	rs1208741501	missense variant	-	NC_000002.12:g.120989010C>A	gnomAD
GLI2	P10070	p.Glu1033Asp	rs766387015	missense variant	-	NC_000002.12:g.120989013G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1033Lys	rs1287203228	missense variant	-	NC_000002.12:g.120989011G>A	gnomAD
GLI2	P10070	p.Asn1034Lys	rs751735227	missense variant	-	NC_000002.12:g.120989016C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1036Val	rs755093850	missense variant	-	NC_000002.12:g.120989021C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1037Thr	rs1190464996	missense variant	-	NC_000002.12:g.120989024T>C	TOPMed,gnomAD
GLI2	P10070	p.Ala1039Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989029G>T	NCI-TCGA
GLI2	P10070	p.Ala1039Thr	rs1158444767	missense variant	-	NC_000002.12:g.120989029G>A	TOPMed
GLI2	P10070	p.Ala1039Val	rs1418852002	missense variant	-	NC_000002.12:g.120989030C>T	gnomAD
GLI2	P10070	p.Val1040Met	rs546947063	missense variant	-	NC_000002.12:g.120989032G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1040Leu	rs546947063	missense variant	-	NC_000002.12:g.120989032G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1041Gly	rs1019643953	missense variant	-	NC_000002.12:g.120989036C>G	gnomAD
GLI2	P10070	p.Ala1041Ser	rs1410337412	missense variant	-	NC_000002.12:g.120989035G>T	gnomAD
GLI2	P10070	p.Ala1042Thr	rs1359783541	missense variant	-	NC_000002.12:g.120989038G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala1042Ser	rs1359783541	missense variant	-	NC_000002.12:g.120989038G>T	TOPMed,gnomAD
GLI2	P10070	p.Val1044Glu	rs1314428926	missense variant	-	NC_000002.12:g.120989045T>A	gnomAD
GLI2	P10070	p.Val1044Leu	rs752964383	missense variant	-	NC_000002.12:g.120989044G>T	ExAC,gnomAD
GLI2	P10070	p.Asp1045Val	rs1340833371	missense variant	-	NC_000002.12:g.120989048A>T	gnomAD
GLI2	P10070	p.Gly1046Cys	rs778226507	missense variant	-	NC_000002.12:g.120989050G>T	ExAC,gnomAD
GLI2	P10070	p.Gly1048Arg	rs897185156	missense variant	-	NC_000002.12:g.120989056G>A	gnomAD
GLI2	P10070	p.Pro1049Ser	rs994573592	missense variant	-	NC_000002.12:g.120989059C>T	TOPMed,gnomAD
GLI2	P10070	p.Glu1050Lys	rs1026265013	missense variant	-	NC_000002.12:g.120989062G>A	gnomAD
GLI2	P10070	p.Ala1051Gly	rs1442199502	missense variant	-	NC_000002.12:g.120989066C>G	gnomAD
GLI2	P10070	p.Asp1052Tyr	rs746582228	missense variant	-	NC_000002.12:g.120989068G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1052Glu	rs775938622	missense variant	-	NC_000002.12:g.120989070C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1052Val	rs768151048	missense variant	-	NC_000002.12:g.120989069A>T	ExAC,gnomAD
GLI2	P10070	p.Gly1054Glu	rs1158057792	missense variant	-	NC_000002.12:g.120989075G>A	TOPMed,gnomAD
GLI2	P10070	p.Pro1056Ala	rs374225016	missense variant	-	NC_000002.12:g.120989080C>G	ESP,gnomAD
GLI2	P10070	p.Pro1056Arg	rs761549286	missense variant	-	NC_000002.12:g.120989081C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1056Ser	rs374225016	missense variant	-	NC_000002.12:g.120989080C>T	ESP,gnomAD
GLI2	P10070	p.Pro1056Leu	rs761549286	missense variant	-	NC_000002.12:g.120989081C>T	ExAC,gnomAD
GLI2	P10070	p.Glu1057Asp	rs1450753084	missense variant	-	NC_000002.12:g.120989085G>C	TOPMed
GLI2	P10070	p.Glu1057Lys	rs1258559138	missense variant	-	NC_000002.12:g.120989083G>A	gnomAD
GLI2	P10070	p.Asp1059Val	rs759476656	missense variant	-	NC_000002.12:g.120989090A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1059His	rs762818312	missense variant	-	NC_000002.12:g.120989089G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1059Tyr	rs762818312	missense variant	-	NC_000002.12:g.120989089G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1059Glu	rs767644818	missense variant	-	NC_000002.12:g.120989091C>A	ExAC,gnomAD
GLI2	P10070	p.Asp1059Glu	rs767644818	missense variant	-	NC_000002.12:g.120989091C>G	ExAC,gnomAD
GLI2	P10070	p.Asp1059Asn	rs762818312	missense variant	-	NC_000002.12:g.120989089G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu1060Pro	rs1307819952	missense variant	-	NC_000002.12:g.120989093T>C	gnomAD
GLI2	P10070	p.Pro1063Ser	COSM3565919	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989101C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Asp1064Gly	rs1256789533	missense variant	-	NC_000002.12:g.120989105A>G	gnomAD
GLI2	P10070	p.Val1066Leu	rs764193976	missense variant	-	NC_000002.12:g.120989110G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1066Met	rs764193976	missense variant	-	NC_000002.12:g.120989110G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1067Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989113G>T	NCI-TCGA
GLI2	P10070	p.Val1067Met	rs1252938560	missense variant	-	NC_000002.12:g.120989113G>A	TOPMed,gnomAD
GLI2	P10070	p.Gln1068Arg	rs1178246285	missense variant	-	NC_000002.12:g.120989117A>G	gnomAD
GLI2	P10070	p.Tyr1069Asn	rs1236506351	missense variant	-	NC_000002.12:g.120989119T>A	gnomAD
GLI2	P10070	p.Ile1070Val	rs1455620973	missense variant	-	NC_000002.12:g.120989122A>G	gnomAD
GLI2	P10070	p.Lys1071Glu	rs757606652	missense variant	-	NC_000002.12:g.120989125A>G	ExAC,gnomAD
GLI2	P10070	p.Lys1071Gln	rs757606652	missense variant	-	NC_000002.12:g.120989125A>C	ExAC,gnomAD
GLI2	P10070	p.Ala1072Val	rs1378085616	missense variant	-	NC_000002.12:g.120989129C>T	gnomAD
GLI2	P10070	p.His1073Gln	rs780785079	missense variant	-	NC_000002.12:g.120989133C>A	ExAC,gnomAD
GLI2	P10070	p.Ala1077Val	rs538722626	missense variant	-	NC_000002.12:g.120989144C>T	TOPMed
GLI2	P10070	p.Ala1077Thr	rs747578237	missense variant	-	NC_000002.12:g.120989143G>A	ExAC,gnomAD
GLI2	P10070	p.Asp1079Asn	rs1330259381	missense variant	-	NC_000002.12:g.120989149G>A	gnomAD
GLI2	P10070	p.Asp1079Gly	rs1165092642	missense variant	-	NC_000002.12:g.120989150A>G	TOPMed
GLI2	P10070	p.Glu1080Lys	rs1442433669	missense variant	-	NC_000002.12:g.120989152G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly1081Val	rs772723859	missense variant	-	NC_000002.12:g.120989156G>T	ExAC,gnomAD
GLI2	P10070	p.Thr1082Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989159C>A	NCI-TCGA
GLI2	P10070	p.Thr1082Ala	rs1045997211	missense variant	-	NC_000002.12:g.120989158A>G	TOPMed,gnomAD
GLI2	P10070	p.Thr1082Ile	rs1157253132	missense variant	-	NC_000002.12:g.120989159C>T	gnomAD
GLI2	P10070	p.Thr1082Ser	COSM716017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989159C>G	NCI-TCGA Cosmic
GLI2	P10070	p.Gly1083Glu	rs762719258	missense variant	-	NC_000002.12:g.120989162G>A	ExAC,gnomAD
GLI2	P10070	p.Gln1084Glu	rs907053242	missense variant	-	NC_000002.12:g.120989164C>G	TOPMed,gnomAD
GLI2	P10070	p.Gln1084His	rs774226078	missense variant	-	NC_000002.12:g.120989166G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1084His	COSM6153556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989166G>C	NCI-TCGA Cosmic
GLI2	P10070	p.Pro1087Thr	rs1033775424	missense variant	-	NC_000002.12:g.120989173C>A	TOPMed
GLI2	P10070	p.Thr1088Met	rs767322106	missense variant	-	NC_000002.12:g.120989177C>T	ExAC,gnomAD
GLI2	P10070	p.Thr1088Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989176A>T	NCI-TCGA
GLI2	P10070	p.Thr1088Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989176A>G	NCI-TCGA
GLI2	P10070	p.Thr1091Ile	rs764436534	missense variant	-	NC_000002.12:g.120989186C>T	ExAC,gnomAD
GLI2	P10070	p.Gly1092Asp	rs754057218	missense variant	-	NC_000002.12:g.120989189G>A	ExAC,gnomAD
GLI2	P10070	p.Phe1093Leu	rs1478006958	missense variant	-	NC_000002.12:g.120989191T>C	gnomAD
GLI2	P10070	p.Asp1095Glu	rs139620354	missense variant	-	NC_000002.12:g.120989199C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1095His	rs959125673	missense variant	-	NC_000002.12:g.120989197G>C	TOPMed
GLI2	P10070	p.Asp1095Asn	rs959125673	missense variant	-	NC_000002.12:g.120989197G>A	TOPMed
GLI2	P10070	p.Asn1096Ser	rs1462586787	missense variant	-	NC_000002.12:g.120989201A>G	gnomAD
GLI2	P10070	p.Pro1097Leu	rs765600180	missense variant	-	NC_000002.12:g.120989204C>T	ExAC,gnomAD
GLI2	P10070	p.Arg1098Ile	rs750745447	missense variant	-	NC_000002.12:g.120989207G>T	ExAC,gnomAD
GLI2	P10070	p.Arg1098Lys	rs750745447	missense variant	-	NC_000002.12:g.120989207G>A	ExAC,gnomAD
GLI2	P10070	p.Leu1099Gln	rs1385662301	missense variant	-	NC_000002.12:g.120989210T>A	gnomAD
GLI2	P10070	p.Pro1100His	rs1298335402	missense variant	-	NC_000002.12:g.120989213C>A	gnomAD
GLI2	P10070	p.Pro1102Arg	rs758984235	missense variant	-	NC_000002.12:g.120989219C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1102Leu	COSM5994274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989219C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Gly1103Arg	rs867862228	missense variant	-	NC_000002.12:g.120989221G>A	TOPMed
GLI2	P10070	p.Gly1103Val	rs747750495	missense variant	-	NC_000002.12:g.120989222G>T	ExAC,gnomAD
GLI2	P10070	p.Gly1106Arg	rs1264996237	missense variant	-	NC_000002.12:g.120989230G>C	TOPMed,gnomAD
GLI2	P10070	p.Gly1106Val	rs777267988	missense variant	-	NC_000002.12:g.120989231G>T	ExAC,gnomAD
GLI2	P10070	p.Gly1106Ser	rs1264996237	missense variant	-	NC_000002.12:g.120989230G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly1106Asp	rs777267988	missense variant	-	NC_000002.12:g.120989231G>A	ExAC,gnomAD
GLI2	P10070	p.Gln1107His	rs1303882655	missense variant	-	NC_000002.12:g.120989235G>C	gnomAD
GLI2	P10070	p.Arg1108Leu	rs745631814	missense variant	-	NC_000002.12:g.120989237G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1108Cys	rs774322148	missense variant	-	NC_000002.12:g.120989236C>T	ExAC,gnomAD
GLI2	P10070	p.Arg1109Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989240G>T	NCI-TCGA
GLI2	P10070	p.Met1110Leu	rs1192613952	missense variant	-	NC_000002.12:g.120989242A>T	gnomAD
GLI2	P10070	p.Val1111Ala	rs772098216	missense variant	-	NC_000002.12:g.120989246T>C	ExAC,gnomAD
GLI2	P10070	p.Ala1112Thr	rs1476019294	missense variant	-	NC_000002.12:g.120989248G>A	TOPMed,gnomAD
GLI2	P10070	p.Asp1114Tyr	rs775280334	missense variant	-	NC_000002.12:g.120989254G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1114Glu	rs760876044	missense variant	-	NC_000002.12:g.120989256C>G	ExAC,gnomAD
GLI2	P10070	p.Ser1115Phe	rs768624852	missense variant	-	NC_000002.12:g.120989258C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1116Lys	rs368638181	missense variant	-	NC_000002.12:g.120989262C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1116Ser	rs202220727	missense variant	-	NC_000002.12:g.120989261A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Val1117Leu	rs147580961	missense variant	-	NC_000002.12:g.120989263G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1118Arg	rs1296674536	missense variant	-	NC_000002.12:g.120989266G>C	gnomAD
GLI2	P10070	p.Ser1120Phe	rs975278086	missense variant	-	NC_000002.12:g.120989273C>T	TOPMed,gnomAD
GLI2	P10070	p.Ser1120Pro	rs1246994636	missense variant	-	NC_000002.12:g.120989272T>C	TOPMed
GLI2	P10070	p.Ala1121Val	rs752010477	missense variant	-	NC_000002.12:g.120989276C>T	ExAC,gnomAD
GLI2	P10070	p.Ala1121Gly	rs752010477	missense variant	-	NC_000002.12:g.120989276C>G	ExAC,gnomAD
GLI2	P10070	p.Ala1121Thr	rs368122191	missense variant	-	NC_000002.12:g.120989275G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1121Pro	rs368122191	missense variant	-	NC_000002.12:g.120989275G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1122Ser	rs755452359	missense variant	-	NC_000002.12:g.120989278C>T	ExAC
GLI2	P10070	p.Met1123Leu	rs1199775213	missense variant	-	NC_000002.12:g.120989281A>C	TOPMed
GLI2	P10070	p.Met1123Arg	rs777445046	missense variant	-	NC_000002.12:g.120989282T>G	ExAC,gnomAD
GLI2	P10070	p.Gly1125Arg	rs753361318	missense variant	-	NC_000002.12:g.120989287G>A	ExAC,gnomAD
GLI2	P10070	p.Leu1129Ser	rs562657085	missense variant	-	NC_000002.12:g.120989300T>C	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Phe1131Ser	rs1215796726	missense variant	-	NC_000002.12:g.120989306T>C	gnomAD
GLI2	P10070	p.Ala1133Thr	rs745719628	missense variant	-	NC_000002.12:g.120989311G>A	ExAC,gnomAD
GLI2	P10070	p.Ala1133Val	rs771760319	missense variant	-	NC_000002.12:g.120989312C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1134Leu	rs1320649360	missense variant	-	NC_000002.12:g.120989315C>T	TOPMed
GLI2	P10070	p.Ser1135Tyr	rs140601980	missense variant	-	NC_000002.12:g.120989318C>A	ESP,ExAC,gnomAD
GLI2	P10070	p.Ser1135Pro	rs1182138685	missense variant	-	NC_000002.12:g.120989317T>C	gnomAD
GLI2	P10070	p.Ser1135Cys	rs140601980	missense variant	-	NC_000002.12:g.120989318C>G	ESP,ExAC,gnomAD
GLI2	P10070	p.Asn1138Asp	rs1421578070	missense variant	-	NC_000002.12:g.120989326A>G	gnomAD
GLI2	P10070	p.Lys1139Glu	rs768591353	missense variant	-	NC_000002.12:g.120989329A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1140Lys	rs776730340	missense variant	-	NC_000002.12:g.120989334T>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1141Ile	rs761857488	missense variant	-	NC_000002.12:g.120989336A>T	ExAC,gnomAD
GLI2	P10070	p.Met1142Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989340G>A	NCI-TCGA
GLI2	P10070	p.Met1142Thr	rs1276884623	missense variant	-	NC_000002.12:g.120989339T>C	TOPMed
GLI2	P10070	p.Pro1143Ser	rs770059172	missense variant	-	NC_000002.12:g.120989341C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1143Ala	rs770059172	missense variant	-	NC_000002.12:g.120989341C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Trp1146Leu	rs773417936	missense variant	-	NC_000002.12:g.120989351G>T	ExAC,gnomAD
GLI2	P10070	p.Trp1146Cys	rs763165545	missense variant	-	NC_000002.12:g.120989352G>C	ExAC,gnomAD
GLI2	P10070	p.Glu1148Gln	COSM4846981	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989356G>C	NCI-TCGA Cosmic
GLI2	P10070	p.Ser1151Thr	rs887719452	missense variant	-	NC_000002.12:g.120989365T>A	TOPMed
GLI2	P10070	p.Ser1151Cys	rs367560592	missense variant	-	NC_000002.12:g.120989366C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1152Asp	rs768110500	missense variant	-	NC_000002.12:g.120989369G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1152Ala	rs768110500	missense variant	-	NC_000002.12:g.120989369G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1152Ser	COSM1005999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989368G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Thr1153Ile	rs756818605	missense variant	-	NC_000002.12:g.120989372C>T	ExAC,gnomAD
GLI2	P10070	p.Val1154Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120989372C>-	NCI-TCGA
GLI2	P10070	p.Val1154Ile	rs200999705	missense variant	-	NC_000002.12:g.120989374G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1154Gly	rs755789095	missense variant	-	NC_000002.12:g.120989375T>G	TOPMed,gnomAD
GLI2	P10070	p.Asp1155Ala	rs1437468060	missense variant	-	NC_000002.12:g.120989378A>C	TOPMed
GLI2	P10070	p.Ala1156Ser	rs3738880	missense variant	-	NC_000002.12:g.120989380G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1156Ser	rs3738880	missense variant	-	NC_000002.12:g.120989380G>T	UniProt,dbSNP
GLI2	P10070	p.Ala1156Ser	VAR_047306	missense variant	-	NC_000002.12:g.120989380G>T	UniProt
GLI2	P10070	p.Ala1156Val	rs886054816	missense variant	-	NC_000002.12:g.120989381C>T	TOPMed
GLI2	P10070	p.Leu1157Val	rs141988240	missense variant	-	NC_000002.12:g.120989383C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1158Val	rs999901522	missense variant	-	NC_000002.12:g.120989387C>T	TOPMed,gnomAD
GLI2	P10070	p.Ser1159Asn	rs768627802	missense variant	-	NC_000002.12:g.120989390G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1161Glu	rs1238186456	missense variant	-	NC_000002.12:g.120989396T>A	TOPMed
GLI2	P10070	p.Val1161Met	rs781094176	missense variant	-	NC_000002.12:g.120989395G>A	ExAC,gnomAD
GLI2	P10070	p.Lys1162Arg	rs190017682	missense variant	-	NC_000002.12:g.120989399A>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1164Leu	rs1357654147	missense variant	-	NC_000002.12:g.120989405C>T	gnomAD
GLI2	P10070	p.Pro1164Ala	rs769864629	missense variant	-	NC_000002.12:g.120989404C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1164Gln	rs1357654147	missense variant	-	NC_000002.12:g.120989405C>A	gnomAD
GLI2	P10070	p.Pro1165His	rs749492360	missense variant	-	NC_000002.12:g.120989408C>A	ExAC,gnomAD
GLI2	P10070	p.Pro1165Ala	rs1332265944	missense variant	-	NC_000002.12:g.120989407C>G	gnomAD
GLI2	P10070	p.Pro1165Arg	rs749492360	missense variant	-	NC_000002.12:g.120989408C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1167Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989413C>T	NCI-TCGA
GLI2	P10070	p.Pro1167Ala	rs1444598825	missense variant	-	NC_000002.12:g.120989413C>G	gnomAD
GLI2	P10070	p.Gln1168Lys	rs1307034642	missense variant	-	NC_000002.12:g.120989416C>A	gnomAD
GLI2	P10070	p.Gln1168His	rs771141522	missense variant	-	NC_000002.12:g.120989418G>T	ExAC,gnomAD
GLI2	P10070	p.Asn1170Lys	rs774621936	missense variant	-	NC_000002.12:g.120989424C>G	ExAC,gnomAD
GLI2	P10070	p.Ala1172Val	rs759924730	missense variant	-	NC_000002.12:g.120989429C>T	ExAC,gnomAD
GLI2	P10070	p.Val1173Leu	rs761198680	missense variant	-	NC_000002.12:g.120989431G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1175Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989437C>A	NCI-TCGA
GLI2	P10070	p.Gln1176His	rs139686081	missense variant	-	NC_000002.12:g.120989442G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys1177Glu	rs977801911	missense variant	-	NC_000002.12:g.120989443A>G	TOPMed,gnomAD
GLI2	P10070	p.Ala1179Thr	rs758020307	missense variant	-	NC_000002.12:g.120989449G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1182Lys	rs751366504	missense variant	-	NC_000002.12:g.120989458C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr1183Asp	rs1423564697	missense variant	-	NC_000002.12:g.120989461T>G	TOPMed,gnomAD
GLI2	P10070	p.Pro1184Gln	rs754763067	missense variant	-	NC_000002.12:g.120989465C>A	ExAC,gnomAD
GLI2	P10070	p.Pro1184Leu	rs754763067	missense variant	-	NC_000002.12:g.120989465C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1184Thr	COSM6153554	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989464C>A	NCI-TCGA Cosmic
GLI2	P10070	p.Gly1185Asp	rs1171685895	missense variant	-	NC_000002.12:g.120989468G>A	gnomAD
GLI2	P10070	p.Tyr1186Cys	rs748088531	missense variant	-	NC_000002.12:g.120989471A>G	ExAC,gnomAD
GLI2	P10070	p.Ser1187Gly	rs1350528681	missense variant	-	NC_000002.12:g.120989473A>G	gnomAD
GLI2	P10070	p.Ser1187Arg	rs1220739775	missense variant	-	NC_000002.12:g.120989475T>A	gnomAD
GLI2	P10070	p.Pro1188Arg	rs145212051	missense variant	-	NC_000002.12:g.120989477C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1188Leu	rs145212051	missense variant	-	NC_000002.12:g.120989477C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1190Val	rs774621554	missense variant	-	NC_000002.12:g.120989483G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1190Ser	rs1196603541	missense variant	-	NC_000002.12:g.120989482G>A	gnomAD
GLI2	P10070	p.Gln1192Pro	rs1278476876	missense variant	-	NC_000002.12:g.120989489A>C	gnomAD
GLI2	P10070	p.Ser1194Arg	rs761286894	missense variant	-	NC_000002.12:g.120989496C>A	ExAC,gnomAD
GLI2	P10070	p.Ser1194Asn	rs200034506	missense variant	-	NC_000002.12:g.120989495G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1194Ile	rs200034506	missense variant	-	NC_000002.12:g.120989495G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1194Arg	rs1259978045	missense variant	-	NC_000002.12:g.120989494A>C	TOPMed
GLI2	P10070	p.Pro1195Thr	rs1291472973	missense variant	-	NC_000002.12:g.120989497C>A	gnomAD
GLI2	P10070	p.Gly1196Glu	COSM4921882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989501G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Gly1197Asp	rs114823319	missense variant	-	NC_000002.12:g.120989504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1197Cys	rs1221545910	missense variant	-	NC_000002.12:g.120989503G>T	TOPMed,gnomAD
GLI2	P10070	p.Gly1197Ser	rs1221545910	missense variant	-	NC_000002.12:g.120989503G>A	TOPMed,gnomAD
GLI2	P10070	p.Asp1199Val	rs751228632	missense variant	-	NC_000002.12:g.120989510A>T	ExAC,gnomAD
GLI2	P10070	p.Ser1200Asn	rs1194754805	missense variant	-	NC_000002.12:g.120989513G>A	gnomAD
GLI2	P10070	p.Thr1201Met	rs376756023	missense variant	-	NC_000002.12:g.120989516C>T	ESP,TOPMed,gnomAD
GLI2	P10070	p.Thr1201Ser	rs1423198282	missense variant	-	NC_000002.12:g.120989515A>T	gnomAD
GLI2	P10070	p.His1204Gln	rs1322837852	missense variant	-	NC_000002.12:g.120989526C>A	gnomAD
GLI2	P10070	p.His1204Tyr	rs1404815951	missense variant	-	NC_000002.12:g.120989524C>T	gnomAD
GLI2	P10070	p.Pro1207Ser	rs1400303256	missense variant	-	NC_000002.12:g.120989533C>T	gnomAD
GLI2	P10070	p.Pro1207His	rs756081434	missense variant	-	NC_000002.12:g.120989534C>A	ExAC,gnomAD
GLI2	P10070	p.Arg1208His	rs200537256	missense variant	-	NC_000002.12:g.120989537G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1208Cys	rs201103063	missense variant	-	NC_000002.12:g.120989536C>T	TOPMed
GLI2	P10070	p.Arg1208Gly	rs201103063	missense variant	-	NC_000002.12:g.120989536C>G	TOPMed
GLI2	P10070	p.Ser1209Arg	rs757358215	missense variant	-	NC_000002.12:g.120989541C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1209Ile	rs138909736	missense variant	-	NC_000002.12:g.120989540G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1210Arg	rs150417879	missense variant	-	NC_000002.12:g.120989542G>A	1000Genomes,ESP,ExAC,gnomAD
GLI2	P10070	p.Gly1210Glu	rs1163477393	missense variant	-	NC_000002.12:g.120989543G>A	TOPMed
GLI2	P10070	p.Ala1211Asp	rs1356398498	missense variant	-	NC_000002.12:g.120989546C>A	gnomAD
GLI2	P10070	p.Pro1212Thr	rs780598193	missense variant	-	NC_000002.12:g.120989548C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1214His	rs777189943	missense variant	-	NC_000002.12:g.120989556G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1215Ser	rs149554935	missense variant	-	NC_000002.12:g.120989557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1215Ala	rs375495972	missense variant	-	NC_000002.12:g.120989558G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1215Val	rs375495972	missense variant	-	NC_000002.12:g.120989558G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1215Asp	rs375495972	missense variant	-	NC_000002.12:g.120989558G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile1216Met	rs767122616	missense variant	-	NC_000002.12:g.120989562C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1217His	rs752535265	missense variant	-	NC_000002.12:g.120989564C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1218Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989568G>T	NCI-TCGA
GLI2	P10070	p.Val1219Ile	COSM3565925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989569G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Asn1220Lys	rs574652470	missense variant	-	NC_000002.12:g.120989574C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1220Ser	rs760453341	missense variant	-	NC_000002.12:g.120989573A>G	ExAC,gnomAD
GLI2	P10070	p.Tyr1221Asp	rs369899304	missense variant	-	NC_000002.12:g.120989575T>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1222Leu	rs757088907	missense variant	-	NC_000002.12:g.120989578A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu1225Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989587C>A	NCI-TCGA
GLI2	P10070	p.Leu1225Pro	rs779072625	missense variant	-	NC_000002.12:g.120989588T>C	ExAC
GLI2	P10070	p.Arg1226Gln	rs543155526	missense variant	-	NC_000002.12:g.120989591G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1226Ter	COSM1399118	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.120989590C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Gly1231Ala	rs780403648	missense variant	-	NC_000002.12:g.120989606G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1231Asp	rs780403648	missense variant	-	NC_000002.12:g.120989606G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1232Asn	rs781353780	missense variant	-	NC_000002.12:g.120989609G>A	ExAC,gnomAD
GLI2	P10070	p.Gln1233Arg	rs377503122	missense variant	-	NC_000002.12:g.120989612A>G	ESP,TOPMed,gnomAD
GLI2	P10070	p.Gln1233His	rs368879160	missense variant	-	NC_000002.12:g.120989613G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1236Asp	COSM3406825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989621G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Thr1239Ser	rs372563328	missense variant	-	NC_000002.12:g.120989630C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1239Ile	rs372563328	missense variant	-	NC_000002.12:g.120989630C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1240Ser	rs1441997643	missense variant	-	NC_000002.12:g.120989632A>T	gnomAD
GLI2	P10070	p.Met1241Leu	rs374416094	missense variant	-	NC_000002.12:g.120989635A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1241Val	rs374416094	missense variant	-	NC_000002.12:g.120989635A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1241Ile	rs138191075	missense variant	-	NC_000002.12:g.120989637G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1242Arg	rs775121883	missense variant	-	NC_000002.12:g.120989640C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1243Ser	rs763967506	missense variant	-	NC_000002.12:g.120989641C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1245Asp	rs201543141	missense variant	-	NC_000002.12:g.120989648C>A	1000Genomes,gnomAD
GLI2	P10070	p.Ala1245Thr	rs140457296	missense variant	-	NC_000002.12:g.120989647G>A	ESP,ExAC,gnomAD
GLI2	P10070	p.Tyr1247Cys	rs377085645	missense variant	-	NC_000002.12:g.120989654A>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1251Pro	rs750581555	missense variant	-	NC_000002.12:g.120989666A>C	ExAC,gnomAD
GLI2	P10070	p.Pro1252Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989669C>T	NCI-TCGA
GLI2	P10070	p.Pro1252Thr	rs1334252087	missense variant	-	NC_000002.12:g.120989668C>A	gnomAD
GLI2	P10070	p.Gln1253SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120989667C>-	NCI-TCGA
GLI2	P10070	p.Gln1253Glu	rs758545876	missense variant	-	NC_000002.12:g.120989671C>G	ExAC,gnomAD
GLI2	P10070	p.Ser1255Arg	rs1216743068	missense variant	-	NC_000002.12:g.120989679C>A	gnomAD
GLI2	P10070	p.Ser1260Asn	rs780215160	missense variant	-	NC_000002.12:g.120989693G>A	ExAC,gnomAD
GLI2	P10070	p.Ala1262Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989699C>T	NCI-TCGA
GLI2	P10070	p.Asn1264Lys	rs201958776	missense variant	-	NC_000002.12:g.120989706C>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Asn1264Lys	rs201958776	missense variant	-	NC_000002.12:g.120989706C>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Gln1265Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.120989707C>T	NCI-TCGA
GLI2	P10070	p.Pro1267Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989713C>A	NCI-TCGA
GLI2	P10070	p.Gln1268Glu	rs1469916040	missense variant	-	NC_000002.12:g.120989716C>G	TOPMed
GLI2	P10070	p.Ser1269Phe	rs771577944	missense variant	-	NC_000002.12:g.120989720C>T	ExAC
GLI2	P10070	p.Asn1272Asp	rs1237511260	missense variant	-	NC_000002.12:g.120989728A>G	gnomAD
GLI2	P10070	p.Pro1274Ser	rs768154558	missense variant	-	NC_000002.12:g.120989734C>T	ExAC,gnomAD
GLI2	P10070	p.Ala1275Gly	rs776530841	missense variant	-	NC_000002.12:g.120989738C>G	ExAC,gnomAD
GLI2	P10070	p.Ala1275Thr	rs1200911614	missense variant	-	NC_000002.12:g.120989737G>A	gnomAD
GLI2	P10070	p.Gly1278Glu	rs761492633	missense variant	-	NC_000002.12:g.120989747G>A	ExAC,gnomAD
GLI2	P10070	p.His1279Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989750A>G	NCI-TCGA
GLI2	P10070	p.His1279Pro	rs1173839344	missense variant	-	NC_000002.12:g.120989750A>C	gnomAD
GLI2	P10070	p.Gly1281Val	rs1425274542	missense variant	-	NC_000002.12:g.120989756G>T	gnomAD
GLI2	P10070	p.His1282Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989759A>G	NCI-TCGA
GLI2	P10070	p.Pro1283Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989761C>G	NCI-TCGA
GLI2	P10070	p.Pro1283Thr	rs1270489477	missense variant	-	NC_000002.12:g.120989761C>A	TOPMed
GLI2	P10070	p.Gln1284Arg	rs765325264	missense variant	-	NC_000002.12:g.120989765A>G	ExAC,gnomAD
GLI2	P10070	p.Gln1285Arg	rs773285493	missense variant	-	NC_000002.12:g.120989768A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1286Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989770A>G	NCI-TCGA
GLI2	P10070	p.Thr1286Lys	rs1389095782	missense variant	-	NC_000002.12:g.120989771C>A	gnomAD
GLI2	P10070	p.Ala1289Ser	rs1324744987	missense variant	-	NC_000002.12:g.120989779G>T	gnomAD
GLI2	P10070	p.Ala1289Val	rs762925931	missense variant	-	NC_000002.12:g.120989780C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1290Leu	rs1395985905	missense variant	-	NC_000002.12:g.120989783C>T	TOPMed
GLI2	P10070	p.Pro1290Ser	rs149872935	missense variant	-	NC_000002.12:g.120989782C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1292His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989789C>A	NCI-TCGA
GLI2	P10070	p.Thr1293Ala	rs755264335	missense variant	-	NC_000002.12:g.120989791A>G	ExAC,gnomAD
GLI2	P10070	p.Thr1294Met	rs767608623	missense variant	-	NC_000002.12:g.120989795C>T	ExAC,gnomAD
GLI2	P10070	p.Asn1297Ser	rs749812469	missense variant	-	NC_000002.12:g.120989804A>G	ExAC,gnomAD
GLI2	P10070	p.Asn1297Asp	rs778047825	missense variant	-	NC_000002.12:g.120989803A>G	ExAC,gnomAD
GLI2	P10070	p.Arg1298Cys	rs757716894	missense variant	-	NC_000002.12:g.120989806C>T	ExAC,gnomAD
GLI2	P10070	p.Arg1298His	rs370407550	missense variant	-	NC_000002.12:g.120989807G>A	ESP,ExAC,gnomAD
GLI2	P10070	p.Arg1300Gly	rs746470573	missense variant	-	NC_000002.12:g.120989812A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1300Lys	COSM3668807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989813G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Glu1301Val	rs768405449	missense variant	-	NC_000002.12:g.120989816A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1301Gly	rs768405449	missense variant	-	NC_000002.12:g.120989816A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu1302Pro	rs562751864	missense variant	-	NC_000002.12:g.120989819T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1303Val	rs769722637	missense variant	-	NC_000002.12:g.120989822G>T	ExAC
GLI2	P10070	p.Val1304GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120989820_120989821insG	NCI-TCGA
GLI2	P10070	p.Val1304Ile	rs918722071	missense variant	-	NC_000002.12:g.120989824G>A	gnomAD
GLI2	P10070	p.Pro1305Leu	COSM3565926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989828C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Asp1306Asn	rs12711538	missense variant	-	NC_000002.12:g.120989830G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1307Pro	rs1390565661	missense variant	-	NC_000002.12:g.120989833T>C	gnomAD
GLI2	P10070	p.Ala1308Val	rs1403509982	missense variant	-	NC_000002.12:g.120989837C>T	gnomAD
GLI2	P10070	p.Ala1310Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989842G>T	NCI-TCGA
GLI2	P10070	p.Ala1310Val	rs1300501583	missense variant	-	NC_000002.12:g.120989843C>T	gnomAD
GLI2	P10070	p.Gly1311Ala	rs140954953	missense variant	-	NC_000002.12:g.120989846G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1311Arg	rs766383275	missense variant	-	NC_000002.12:g.120989845G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1311Glu	rs140954953	missense variant	-	NC_000002.12:g.120989846G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1313Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989852C>A	NCI-TCGA
GLI2	P10070	p.Pro1313Thr	rs767845340	missense variant	-	NC_000002.12:g.120989851C>A	ExAC,gnomAD
GLI2	P10070	p.Pro1313Leu	rs756274499	missense variant	-	NC_000002.12:g.120989852C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1313Ser	rs767845340	missense variant	-	NC_000002.12:g.120989851C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1314Ser	rs754165669	missense variant	-	NC_000002.12:g.120989854C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1315Leu	rs779370829	missense variant	-	NC_000002.12:g.120989858C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1315His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989858C>A	NCI-TCGA
GLI2	P10070	p.Pro1315Ser	rs114376238	missense variant	-	NC_000002.12:g.120989857C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1316Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989860C>G	NCI-TCGA
GLI2	P10070	p.Pro1317Ser	rs1488474574	missense variant	-	NC_000002.12:g.120989863C>T	gnomAD
GLI2	P10070	p.Pro1317Leu	COSM3565927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989864C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Val1318Ile	rs150434714	missense variant	-	NC_000002.12:g.120989866G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1319Arg	rs1259184973	missense variant	-	NC_000002.12:g.120989870A>G	gnomAD
GLI2	P10070	p.His1326Gln	rs1234504471	missense variant	-	NC_000002.12:g.120989892T>A	TOPMed
GLI2	P10070	p.His1326Arg	rs145147250	missense variant	-	NC_000002.12:g.120989891A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.His1326Tyr	rs1367371040	missense variant	-	NC_000002.12:g.120989890C>T	gnomAD
GLI2	P10070	p.His1327Gln	COSM1399119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989895C>G	NCI-TCGA Cosmic
GLI2	P10070	p.Leu1328Arg	rs769530846	missense variant	-	NC_000002.12:g.120989897T>G	ExAC,gnomAD
GLI2	P10070	p.Ala1329Ser	rs1419431970	missense variant	-	NC_000002.12:g.120989899G>T	gnomAD
GLI2	P10070	p.Ser1331Phe	rs777745873	missense variant	-	NC_000002.12:g.120989906C>T	ExAC,gnomAD
GLI2	P10070	p.Ser1331Thr	COSM4926195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989905T>A	NCI-TCGA Cosmic
GLI2	P10070	p.Met1332Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989910G>A	NCI-TCGA
GLI2	P10070	p.Met1332Val	rs749064978	missense variant	-	NC_000002.12:g.120989908A>G	ExAC,gnomAD
GLI2	P10070	p.Ser1333Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989912G>A	NCI-TCGA
GLI2	P10070	p.Glu1335Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989919G>C	NCI-TCGA
GLI2	P10070	p.Gly1336Asp	rs771047694	missense variant	-	NC_000002.12:g.120989921G>A	ExAC,gnomAD
GLI2	P10070	p.His1338Arg	rs774148686	missense variant	-	NC_000002.12:g.120989927A>G	ExAC,gnomAD
GLI2	P10070	p.Gln1339His	rs1372738733	missense variant	-	NC_000002.12:g.120989931G>C	TOPMed
GLI2	P10070	p.Val1340Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120989933T>A	NCI-TCGA
GLI2	P10070	p.Val1340Leu	rs759453086	missense variant	-	NC_000002.12:g.120989932G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1341Leu	rs999363736	missense variant	-	NC_000002.12:g.120989936C>T	TOPMed
GLI2	P10070	p.Ser1342Asn	rs1336856462	missense variant	-	NC_000002.12:g.120989939G>A	TOPMed
GLI2	P10070	p.Ala1346Ser	rs775594660	missense variant	-	NC_000002.12:g.120989950G>T	ExAC,gnomAD
GLI2	P10070	p.Arg1347Cys	rs556459012	missense variant	-	NC_000002.12:g.120989953C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1347His	rs764270076	missense variant	-	NC_000002.12:g.120989954G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1347Pro	rs764270076	missense variant	-	NC_000002.12:g.120989954G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1348His	rs754251258	missense variant	-	NC_000002.12:g.120989958G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1352Val	rs149140724	missense variant	-	NC_000002.12:g.120989968A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1353Lys	rs775213696	missense variant	-	NC_000002.12:g.120989971G>A	ExAC,gnomAD
GLI2	P10070	p.Pro1354Leu	rs1440454658	missense variant	-	NC_000002.12:g.120989975C>T	TOPMed
GLI2	P10070	p.Thr1356Pro	rs1344435528	missense variant	-	NC_000002.12:g.120989980A>C	gnomAD
GLI2	P10070	p.Gly1357Asp	rs760434927	missense variant	-	NC_000002.12:g.120989984G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1357Val	COSM232410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989984G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Pro1358Leu	rs780598328	missense variant	-	NC_000002.12:g.120989987C>T	ExAC,gnomAD
GLI2	P10070	p.Met1359Thr	rs755875503	missense variant	-	NC_000002.12:g.120989990T>C	ExAC,gnomAD
GLI2	P10070	p.Met1359Ile	rs1466803098	missense variant	-	NC_000002.12:g.120989991G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly1360Glu	rs777551364	missense variant	-	NC_000002.12:g.120989993G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1360Val	rs777551364	missense variant	-	NC_000002.12:g.120989993G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1360Ala	rs777551364	missense variant	-	NC_000002.12:g.120989993G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1361Leu	rs145939921	missense variant	-	NC_000002.12:g.120989995G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1362Thr	COSM3797907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120989998G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Thr1363Ile	rs1449022922	missense variant	-	NC_000002.12:g.120990002C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala1364Ser	rs878895919	missense variant	-	NC_000002.12:g.120990004G>T	-
GLI2	P10070	p.Ala1364Thr	COSM6153553	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990004G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Phe1366Cys	rs1223136757	missense variant	-	NC_000002.12:g.120990011T>G	gnomAD
GLI2	P10070	p.Val1369Met	rs1304690842	missense variant	-	NC_000002.12:g.120990019G>A	gnomAD
GLI2	P10070	p.Gln1370His	COSM6087252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990024G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Pro1371Leu	rs768387647	missense variant	-	NC_000002.12:g.120990026C>T	ExAC,gnomAD
GLI2	P10070	p.Arg1372Gly	rs745816777	missense variant	-	NC_000002.12:g.120990028C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1372Gln	rs201915462	missense variant	-	NC_000002.12:g.120990029G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1372Leu	rs201915462	missense variant	-	NC_000002.12:g.120990029G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1372Trp	rs745816777	missense variant	-	NC_000002.12:g.120990028C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1373Leu	rs1313867219	missense variant	-	NC_000002.12:g.120990032C>T	TOPMed
GLI2	P10070	p.Leu1375Pro	rs371219507	missense variant	-	NC_000002.12:g.120990038T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu1375Phe	rs1480624580	missense variant	-	NC_000002.12:g.120990037C>T	gnomAD
GLI2	P10070	p.Glu1376Lys	rs768928173	missense variant	-	NC_000002.12:g.120990040G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1378Arg	rs1427407202	missense variant	-	NC_000002.12:g.120990048C>A	TOPMed,gnomAD
GLI2	P10070	p.Ser1378Asn	rs776832448	missense variant	-	NC_000002.12:g.120990047G>A	ExAC,gnomAD
GLI2	P10070	p.Pro1379Ala	rs1410194190	missense variant	-	NC_000002.12:g.120990049C>G	TOPMed
GLI2	P10070	p.Arg1382His	rs200080112	missense variant	-	NC_000002.12:g.120990059G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1382Cys	rs761959609	missense variant	-	NC_000002.12:g.120990058C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1383Gln	rs750756306	missense variant	-	NC_000002.12:g.120990063C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1383Tyr	rs1417157202	missense variant	-	NC_000002.12:g.120990061C>T	TOPMed
GLI2	P10070	p.Arg1384Leu	rs763852684	missense variant	-	NC_000002.12:g.120990065G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1384Cys	rs763406790	missense variant	-	NC_000002.12:g.120990064C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1384His	rs763852684	missense variant	-	NC_000002.12:g.120990065G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1384Ser	rs763406790	missense variant	-	NC_000002.12:g.120990064C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1386Leu	rs755680499	missense variant	-	NC_000002.12:g.120990070G>T	ExAC,gnomAD
GLI2	P10070	p.Arg1387Cys	rs763628436	missense variant	-	NC_000002.12:g.120990073C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1387LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120990074G>-	NCI-TCGA
GLI2	P10070	p.Arg1387His	rs753561308	missense variant	-	NC_000002.12:g.120990074G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1387Gly	COSM716016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990073C>G	NCI-TCGA Cosmic
GLI2	P10070	p.Ala1388Thr	rs1306381397	missense variant	-	NC_000002.12:g.120990076G>A	gnomAD
GLI2	P10070	p.Ala1388Val	COSM1006000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990077C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Gln1390Pro	rs917282260	missense variant	-	NC_000002.12:g.120990083A>C	gnomAD
GLI2	P10070	p.Gln1390Ter	rs1203090066	stop gained	-	NC_000002.12:g.120990082C>T	gnomAD
GLI2	P10070	p.Gln1391His	rs1489027653	missense variant	-	NC_000002.12:g.120990087G>C	TOPMed,gnomAD
GLI2	P10070	p.Leu1393Arg	rs778605920	missense variant	-	NC_000002.12:g.120990092T>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1394Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990094G>T	NCI-TCGA
GLI2	P10070	p.Tyr1395Phe	rs745645553	missense variant	-	NC_000002.12:g.120990098A>T	ExAC
GLI2	P10070	p.Ala1396Ser	rs751479828	missense variant	-	NC_000002.12:g.120990100G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1396Thr	rs751479828	missense variant	-	NC_000002.12:g.120990100G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1396Pro	rs751479828	missense variant	-	NC_000002.12:g.120990100G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1398Thr	rs768730033	missense variant	-	NC_000002.12:g.120990106G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1400Cys	rs143914758	missense variant	-	NC_000002.12:g.120990112G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1403Val	rs577126364	missense variant	-	NC_000002.12:g.120990121A>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1404Asp	rs773494590	missense variant	-	NC_000002.12:g.120990125C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1404Val	rs773494590	missense variant	-	NC_000002.12:g.120990125C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1405Val	rs1302372905	missense variant	-	NC_000002.12:g.120990128C>T	gnomAD
GLI2	P10070	p.Met1406Val	rs763363340	missense variant	-	NC_000002.12:g.120990130A>G	ExAC,gnomAD
GLI2	P10070	p.Met1406Ile	rs1401505369	missense variant	-	NC_000002.12:g.120990132G>T	gnomAD
GLI2	P10070	p.Pro1407Leu	rs753578976	missense variant	-	NC_000002.12:g.120990134C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro1407Ser	rs1278408896	missense variant	-	NC_000002.12:g.120990133C>T	gnomAD
GLI2	P10070	p.Ser1408Cys	rs775002368	missense variant	-	NC_000002.12:g.120990137C>G	ExAC,gnomAD
GLI2	P10070	p.Ser1409Ile	rs1222396896	missense variant	-	NC_000002.12:g.120990140G>T	gnomAD
GLI2	P10070	p.Ser1409Cys	rs1322915480	missense variant	-	NC_000002.12:g.120990139A>T	gnomAD
GLI2	P10070	p.Gln1410His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990144G>T	NCI-TCGA
GLI2	P10070	p.Glu1411Lys	rs1489463100	missense variant	-	NC_000002.12:g.120990145G>A	gnomAD
GLI2	P10070	p.Thr1412Arg	rs763722028	missense variant	-	NC_000002.12:g.120990149C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1412Ile	rs763722028	missense variant	-	NC_000002.12:g.120990149C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1412Ala	rs760060026	missense variant	-	NC_000002.12:g.120990148A>G	ExAC,TOPMed
GLI2	P10070	p.Ala1413Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990151G>C	NCI-TCGA
GLI2	P10070	p.Ala1413Ser	rs1241706432	missense variant	-	NC_000002.12:g.120990151G>T	gnomAD
GLI2	P10070	p.Glu1414Gln	rs753359287	missense variant	-	NC_000002.12:g.120990154G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1419Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990169G>A	NCI-TCGA
GLI2	P10070	p.Gly1419Arg	rs764921374	missense variant	-	NC_000002.12:g.120990169G>C	ExAC,gnomAD
GLI2	P10070	p.Ala1420Glu	rs370136073	missense variant	-	NC_000002.12:g.120990173C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1420Thr	rs1273308746	missense variant	-	NC_000002.12:g.120990172G>A	TOPMed
GLI2	P10070	p.Ala1420Gly	rs370136073	missense variant	-	NC_000002.12:g.120990173C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1420Val	rs370136073	missense variant	-	NC_000002.12:g.120990173C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1421Ile	rs779760941	missense variant	-	NC_000002.12:g.120990177G>T	ExAC,gnomAD
GLI2	P10070	p.Gly1422Ala	rs746964199	missense variant	-	NC_000002.12:g.120990179G>C	ExAC,gnomAD
GLI2	P10070	p.Asn1423Ser	rs781286934	missense variant	-	NC_000002.12:g.120990182A>G	ExAC,gnomAD
GLI2	P10070	p.Met1424Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990185T>C	NCI-TCGA
GLI2	P10070	p.Gly1425Ala	rs748233304	missense variant	-	NC_000002.12:g.120990188G>C	ExAC,gnomAD
GLI2	P10070	p.Gly1425Glu	rs748233304	missense variant	-	NC_000002.12:g.120990188G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1425Val	COSM4921050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990188G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ser1426Thr	rs1285515448	missense variant	-	NC_000002.12:g.120990190T>A	gnomAD
GLI2	P10070	p.Ser1426Leu	rs1215590067	missense variant	-	NC_000002.12:g.120990191C>T	TOPMed
GLI2	P10070	p.Pro1428Leu	rs773478679	missense variant	-	NC_000002.12:g.120990197C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1428Arg	rs773478679	missense variant	-	NC_000002.12:g.120990197C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1429Ser	rs1273342744	missense variant	-	NC_000002.12:g.120990199C>T	TOPMed
GLI2	P10070	p.Pro1429Leu	rs1435807664	missense variant	-	NC_000002.12:g.120990200C>T	TOPMed
GLI2	P10070	p.Pro1431Leu	rs749402521	missense variant	-	NC_000002.12:g.120990206C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1432Ser	rs1217724427	missense variant	-	NC_000002.12:g.120990208C>T	gnomAD
GLI2	P10070	p.Pro1433Leu	COSM441060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990212C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Gln1434Lys	rs1021233659	missense variant	-	NC_000002.12:g.120990214C>A	TOPMed
GLI2	P10070	p.Asp1435Glu	rs140565050	missense variant	-	NC_000002.12:g.120990219C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1436Thr	rs376388820	missense variant	-	NC_000002.12:g.120990220G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1437Ser	rs149163880	missense variant	-	NC_000002.12:g.120990223G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1437Asp	rs750097545	missense variant	-	NC_000002.12:g.120990224G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1437Cys	rs149163880	missense variant	-	NC_000002.12:g.120990223G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1438Arg	rs1194965005	missense variant	-	NC_000002.12:g.120990226G>A	TOPMed
GLI2	P10070	p.Gly1438Glu	rs1383258480	missense variant	-	NC_000002.12:g.120990227G>A	gnomAD
GLI2	P10070	p.Ala1439Thr	rs560714886	missense variant	-	NC_000002.12:g.120990229G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Pro1440Arg	rs267598856	missense variant	-	NC_000002.12:g.120990233C>G	1000Genomes,ExAC
GLI2	P10070	p.Pro1440Leu	rs267598856	missense variant	-	NC_000002.12:g.120990233C>T	1000Genomes,ExAC
GLI2	P10070	p.His1442Arg	rs1383968961	missense variant	-	NC_000002.12:g.120990239A>G	gnomAD
GLI2	P10070	p.Ser1443Asn	rs754953902	missense variant	-	NC_000002.12:g.120990242G>A	ExAC,gnomAD
GLI2	P10070	p.Met1444Ile	rs146467786	missense variant	-	NC_000002.12:g.120990246G>A	UniProt,dbSNP
GLI2	P10070	p.Met1444Ile	VAR_032977	missense variant	-	NC_000002.12:g.120990246G>A	UniProt
GLI2	P10070	p.Met1444Ile	rs146467786	missense variant	-	NC_000002.12:g.120990246G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1444_Leu1445delinsIlePhe	VAR_075216	deletion_insertion	Culler-Jones syndrome (CJS) [MIM:615849]	-	UniProt
GLI2	P10070	p.Leu1445Phe	rs146207623	missense variant	-	NC_000002.12:g.120990247C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr1446Cys	rs199512645	missense variant	-	NC_000002.12:g.120990251A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Tyr1447Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990253T>G	NCI-TCGA
GLI2	P10070	p.Tyr1447Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990254A>G	NCI-TCGA
GLI2	P10070	p.Tyr1447His	rs749545197	missense variant	-	NC_000002.12:g.120990253T>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr1448Cys	rs1279405733	missense variant	-	NC_000002.12:g.120990257A>G	gnomAD
GLI2	P10070	p.Gly1449Ser	rs746213496	missense variant	-	NC_000002.12:g.120990259G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1449Cys	rs746213496	missense variant	-	NC_000002.12:g.120990259G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1449Ala	rs1444731306	missense variant	-	NC_000002.12:g.120990260G>C	TOPMed
GLI2	P10070	p.Gly1449Asp	COSM3565929	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990260G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Gln1450His	rs201523549	missense variant	-	NC_000002.12:g.120990264G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile1451Phe	rs761024643	missense variant	-	NC_000002.12:g.120990265A>T	ExAC,gnomAD
GLI2	P10070	p.Met1453Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990271A>G	NCI-TCGA
GLI2	P10070	p.Met1453Leu	COSM4930271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990271A>T	NCI-TCGA Cosmic
GLI2	P10070	p.Glu1455Lys	rs772550425	missense variant	-	NC_000002.12:g.120990277G>A	ExAC,gnomAD
GLI2	P10070	p.Asp1457Gly	COSM1399120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990284A>G	NCI-TCGA Cosmic
GLI2	P10070	p.Gly1459Ser	rs760074094	missense variant	-	NC_000002.12:g.120990289G>A	ExAC,gnomAD
GLI2	P10070	p.Leu1463Ile	rs1036625298	missense variant	-	NC_000002.12:g.120990301C>A	TOPMed,gnomAD
GLI2	P10070	p.Gly1464Ala	rs767232856	missense variant	-	NC_000002.12:g.120990305G>C	ExAC,gnomAD
GLI2	P10070	p.Gly1464Arg	rs200274772	missense variant	-	NC_000002.12:g.120990304G>A	ESP,TOPMed,gnomAD
GLI2	P10070	p.Ser1465Asn	rs150348343	missense variant	-	NC_000002.12:g.120990308G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1465Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990308G>T	NCI-TCGA
GLI2	P10070	p.Cys1466Tyr	rs755954458	missense variant	-	NC_000002.12:g.120990311G>A	ExAC,gnomAD
GLI2	P10070	p.Val1468Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990317T>G	NCI-TCGA
GLI2	P10070	p.Val1468Ala	rs1334370693	missense variant	-	NC_000002.12:g.120990317T>C	gnomAD
GLI2	P10070	p.Met1469Leu	rs1347544585	missense variant	-	NC_000002.12:g.120990319A>T	gnomAD
GLI2	P10070	p.Arg1470Gln	rs201680468	missense variant	-	NC_000002.12:g.120990323G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1470Trp	rs867533231	missense variant	-	NC_000002.12:g.120990322C>T	gnomAD
GLI2	P10070	p.Ser1471Pro	rs757602988	missense variant	-	NC_000002.12:g.120990325T>C	ExAC,gnomAD
GLI2	P10070	p.Ser1471Phe	rs867501490	missense variant	-	NC_000002.12:g.120990326C>T	TOPMed,gnomAD
GLI2	P10070	p.Ser1471Cys	rs867501490	missense variant	-	NC_000002.12:g.120990326C>G	TOPMed,gnomAD
GLI2	P10070	p.Pro1474Leu	rs779265139	missense variant	-	NC_000002.12:g.120990335C>T	ExAC,gnomAD
GLI2	P10070	p.Ala1478Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990347C>T	NCI-TCGA
GLI2	P10070	p.Cys1479Tyr	rs1281305560	missense variant	-	NC_000002.12:g.120990350G>A	gnomAD
GLI2	P10070	p.Asp1481Asn	rs1249684727	missense variant	-	NC_000002.12:g.120990355G>A	gnomAD
GLI2	P10070	p.Asp1481Glu	rs201051196	missense variant	-	NC_000002.12:g.120990357C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1482Ile	COSM70909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990359G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Gln1484Arg	rs1348855997	missense variant	-	NC_000002.12:g.120990365A>G	TOPMed
GLI2	P10070	p.Gln1484His	rs780228031	missense variant	-	NC_000002.12:g.120990366G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1485Ala	rs145958673	missense variant	-	NC_000002.12:g.120990367C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1485Thr	rs145958673	missense variant	-	NC_000002.12:g.120990367C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1485Leu	COSM3894654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990368C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Gln1486Leu	rs769010893	missense variant	-	NC_000002.12:g.120990371A>T	ExAC,gnomAD
GLI2	P10070	p.Pro1487His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990374C>A	NCI-TCGA
GLI2	P10070	p.Leu1488Phe	rs146403211	missense variant	-	NC_000002.12:g.120990378G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1489Ser	rs773996121	missense variant	-	NC_000002.12:g.120990379C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1491Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990385C>G	NCI-TCGA
GLI2	P10070	p.Pro1491Arg	rs1304191660	missense variant	-	NC_000002.12:g.120990386C>G	gnomAD
GLI2	P10070	p.Pro1491Ser	rs1388900287	missense variant	-	NC_000002.12:g.120990385C>T	gnomAD
GLI2	P10070	p.Val1500Met	rs1327135240	missense variant	-	NC_000002.12:g.120990412G>A	TOPMed,gnomAD
GLI2	P10070	p.Ser1502Pro	rs760708035	missense variant	-	NC_000002.12:g.120990418T>C	ExAC,gnomAD
GLI2	P10070	p.Ser1502Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990419C>T	NCI-TCGA
GLI2	P10070	p.Leu1504Pro	rs1039469636	missense variant	-	NC_000002.12:g.120990425T>C	TOPMed
GLI2	P10070	p.Leu1504Phe	rs763917549	missense variant	-	NC_000002.12:g.120990424C>T	ExAC,gnomAD
GLI2	P10070	p.Glu1506Gly	rs754008467	missense variant	-	NC_000002.12:g.120990431A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1507Gly	rs757408573	missense variant	-	NC_000002.12:g.120990434C>G	ExAC,gnomAD
GLI2	P10070	p.Ala1507Ser	rs1187651972	missense variant	-	NC_000002.12:g.120990433G>T	TOPMed
GLI2	P10070	p.Ala1507Val	rs757408573	missense variant	-	NC_000002.12:g.120990434C>T	ExAC,gnomAD
GLI2	P10070	p.Ala1507Asp	COSM4927769	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990434C>A	NCI-TCGA Cosmic
GLI2	P10070	p.Pro1508Thr	rs1490117894	missense variant	-	NC_000002.12:g.120990436C>A	gnomAD
GLI2	P10070	p.Pro1508Ser	COSM3565930	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990436C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Gln1509Pro	rs900924402	missense variant	-	NC_000002.12:g.120990440A>C	gnomAD
GLI2	P10070	p.Gln1509Arg	rs900924402	missense variant	-	NC_000002.12:g.120990440A>G	gnomAD
GLI2	P10070	p.Gln1509Lys	rs1170816516	missense variant	-	NC_000002.12:g.120990439C>A	TOPMed,gnomAD
GLI2	P10070	p.Gln1509His	rs758647029	missense variant	-	NC_000002.12:g.120990441G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile1510Thr	rs780501158	missense variant	-	NC_000002.12:g.120990443T>C	ExAC,gnomAD
GLI2	P10070	p.Phe1512Leu	rs1261322311	missense variant	-	NC_000002.12:g.120990448T>C	TOPMed
GLI2	P10070	p.Asp1513Asn	rs755563767	missense variant	-	NC_000002.12:g.120990451G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1513HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120990450_120990454CGATG>-	NCI-TCGA
GLI2	P10070	p.Asp1513His	rs755563767	missense variant	-	NC_000002.12:g.120990451G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile1515Val	rs781541846	missense variant	-	NC_000002.12:g.120990457A>G	ExAC,gnomAD
GLI2	P10070	p.Met1516Val	rs1365370523	missense variant	-	NC_000002.12:g.120990460A>G	TOPMed,gnomAD
GLI2	P10070	p.Met1516Thr	rs147896208	missense variant	-	NC_000002.12:g.120990461T>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1516Lys	rs147896208	missense variant	-	NC_000002.12:g.120990461T>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1519Asp	rs745550412	missense variant	-	NC_000002.12:g.120990470G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1519Ser	rs565831399	missense variant	-	NC_000002.12:g.120990469G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1520His	rs114814747	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990472G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1520Asn	rs114814747	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1520Asn	rs114814747	missense variant	Culler-Jones syndrome (CJS)	NC_000002.12:g.120990472G>A	UniProt,dbSNP
GLI2	P10070	p.Asp1520Asn	VAR_075217	missense variant	Culler-Jones syndrome (CJS)	NC_000002.12:g.120990472G>A	UniProt
GLI2	P10070	p.Asp1520Glu	rs148902971	missense variant	-	NC_000002.12:g.120990474T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1520Asn	rs114814747	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1521Tyr	rs199843410	missense variant	-	NC_000002.12:g.120990475C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1521Asp	rs199843410	missense variant	-	NC_000002.12:g.120990475C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1521Gln	rs758740791	missense variant	-	NC_000002.12:g.120990477C>G	ExAC,gnomAD
GLI2	P10070	p.Ser1522Trp	rs766495260	missense variant	-	NC_000002.12:g.120990479C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1522Leu	rs766495260	missense variant	-	NC_000002.12:g.120990479C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Phe1525Leu	rs1191962515	missense variant	-	NC_000002.12:g.120990487T>C	TOPMed
GLI2	P10070	p.Ser1526Pro	rs556121868	missense variant	-	NC_000002.12:g.120990490T>C	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ser1526Leu	rs781561335	missense variant	-	NC_000002.12:g.120990491C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1527Ser	rs1259103009	missense variant	-	NC_000002.12:g.120990493G>A	gnomAD
GLI2	P10070	p.Gly1527Asp	rs1206947298	missense variant	-	NC_000002.12:g.120990494G>A	TOPMed
GLI2	P10070	p.Gly1527Val	COSM3406826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990494G>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ser1530Asn	rs778433771	missense variant	-	NC_000002.12:g.120990503G>A	ExAC,gnomAD
GLI2	P10070	p.Leu1533Pro	rs202078730	missense variant	-	NC_000002.12:g.120990512T>C	TOPMed
GLI2	P10070	p.Leu1534Ile	rs745361113	missense variant	-	NC_000002.12:g.120990514C>A	ExAC,gnomAD
GLI2	P10070	p.His1535Tyr	rs1443181771	missense variant	-	NC_000002.12:g.120990517C>T	gnomAD
GLI2	P10070	p.Leu1537Val	rs1212934121	missense variant	-	NC_000002.12:g.120990523C>G	TOPMed
GLI2	P10070	p.Ser1538Pro	rs1160889773	missense variant	-	NC_000002.12:g.120990526T>C	gnomAD
GLI2	P10070	p.Gln1539Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.120990529C>T	NCI-TCGA
GLI2	P10070	p.Asn1540Thr	rs1346155691	missense variant	-	NC_000002.12:g.120990533A>C	gnomAD
GLI2	P10070	p.Ser1541Pro	rs1453373894	missense variant	-	NC_000002.12:g.120990535T>C	gnomAD
GLI2	P10070	p.Ser1541Tyr	rs199887024	missense variant	-	NC_000002.12:g.120990536C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1541Phe	COSM3565932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990536C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Arg1543His	rs138987487	missense variant	-	NC_000002.12:g.120990542G>A	UniProt,dbSNP
GLI2	P10070	p.Arg1543His	VAR_075218	missense variant	-	NC_000002.12:g.120990542G>A	UniProt
GLI2	P10070	p.Arg1543His	rs138987487	missense variant	-	NC_000002.12:g.120990542G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1543Cys	rs141573066	missense variant	-	NC_000002.12:g.120990541C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1546Asn	rs776523101	missense variant	-	NC_000002.12:g.120990551C>A	ExAC,gnomAD
GLI2	P10070	p.Thr1546Ile	rs776523101	missense variant	-	NC_000002.12:g.120990551C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1547His	rs769826605	missense variant	-	NC_000002.12:g.120990554C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1547Arg	rs769826605	missense variant	-	NC_000002.12:g.120990554C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1547Leu	rs769826605	missense variant	-	NC_000002.12:g.120990554C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1548Gln	rs371304728	missense variant	-	NC_000002.12:g.120990557G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1548Gly	rs1237907959	missense variant	-	NC_000002.12:g.120990556C>G	gnomAD
GLI2	P10070	p.Arg1548Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.120990556C>T	NCI-TCGA
GLI2	P10070	p.Arg1548GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.120990551C>-	NCI-TCGA
GLI2	P10070	p.Asn1549Tyr	rs1462271727	missense variant	-	NC_000002.12:g.120990559A>T	TOPMed,gnomAD
GLI2	P10070	p.Asn1549Lys	rs759754641	missense variant	-	NC_000002.12:g.120990561C>G	ExAC,gnomAD
GLI2	P10070	p.Thr1552Ala	rs1057518657	missense variant	-	NC_000002.12:g.120990568A>G	gnomAD
GLI2	P10070	p.Thr1552Ser	rs1057518657	missense variant	-	NC_000002.12:g.120990568A>T	gnomAD
GLI2	P10070	p.Pro1554Leu	rs767802807	missense variant	-	NC_000002.12:g.120990575C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1554Leu	rs767802807	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120990575C>T	UniProt,dbSNP
GLI2	P10070	p.Pro1554Leu	VAR_032978	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120990575C>T	UniProt
GLI2	P10070	p.Pro1554Arg	COSM475855	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990575C>G	NCI-TCGA Cosmic
GLI2	P10070	p.Pro1554Ser	COSM1006003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990574C>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ser1555Pro	rs144372453	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990577T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1557Arg	rs778241780	missense variant	-	NC_000002.12:g.120990584C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1557Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.120990583C>T	NCI-TCGA
GLI2	P10070	p.Ala1558Thr	rs200551009	missense variant	-	NC_000002.12:g.120990586G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Met1563Thr	rs1175866571	missense variant	-	NC_000002.12:g.120990602T>C	gnomAD
GLI2	P10070	p.Val1565Gly	rs1468856100	missense variant	-	NC_000002.12:g.120990608T>G	TOPMed
GLI2	P10070	p.Gly1566Arg	rs768317485	missense variant	-	NC_000002.12:g.120990610G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1566Glu	COSM3565934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990611G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Thr1573Pro	rs1373825712	missense variant	-	NC_000002.12:g.120990631A>C	gnomAD
GLI2	P10070	p.Thr1573Asn	rs1390539682	missense variant	-	NC_000002.12:g.120990632C>A	gnomAD
GLI2	P10070	p.Ala1576Pro	rs367918973	missense variant	-	NC_000002.12:g.120990640G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1576Thr	rs367918973	missense variant	-	NC_000002.12:g.120990640G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1577Lys	rs770936696	missense variant	-	NC_000002.12:g.120990643G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1577Gln	rs770936696	missense variant	-	NC_000002.12:g.120990643G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1577Val	COSM4876698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990644A>T	NCI-TCGA Cosmic
GLI2	P10070	p.Ser1579Cys	rs774448389	missense variant	-	NC_000002.12:g.120990649A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1579Asn	rs759715103	missense variant	-	NC_000002.12:g.120990650G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Phe1581Leu	rs1397595368	missense variant	-	NC_000002.12:g.120990657C>G	TOPMed
GLI2	P10070	p.Met1584Val	rs767702977	missense variant	-	NC_000002.12:g.120990664A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1584Ile	COSM3565935	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.120990666G>A	NCI-TCGA Cosmic
GLI2	P10070	p.Met1585Thr	rs1480924803	missense variant	-	NC_000002.12:g.120990668T>C	TOPMed,gnomAD
GLI2	P10070	p.Met1585Lys	rs1480924803	missense variant	-	NC_000002.12:g.120990668T>A	TOPMed,gnomAD
GLI2	P10070	p.Thr1586Ala	rs1174326854	missense variant	-	NC_000002.12:g.120990670A>G	TOPMed
GLI2	P10070	p.Ter1587Gln	rs529216641	stop lost	-	NC_000002.12:g.120990673T>C	1000Genomes
GLI2	P10070	p.Thr3Ala	rs749244227	missense variant	-	NC_000002.12:g.120797327A>G	ExAC,gnomAD
GLI2	P10070	p.Thr3Met	rs770918439	missense variant	-	NC_000002.12:g.120797328C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser4Phe	rs1442637375	missense variant	-	NC_000002.12:g.120797331C>T	gnomAD
GLI2	P10070	p.Ala5Thr	rs745963460	missense variant	-	NC_000002.12:g.120797333G>A	ExAC,gnomAD
GLI2	P10070	p.Ser6Leu	rs772252117	missense variant	-	NC_000002.12:g.120797337C>T	ExAC,gnomAD
GLI2	P10070	p.Ala7Val	rs1262659333	missense variant	-	NC_000002.12:g.120797340C>T	TOPMed
GLI2	P10070	p.Glu11Lys	rs574656730	missense variant	-	NC_000002.12:g.120797351G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu11Asp	rs764422727	missense variant	-	NC_000002.12:g.120797353G>C	ExAC,gnomAD
GLI2	P10070	p.Ala15Val	rs1175916421	missense variant	-	NC_000002.12:g.120797364C>T	gnomAD
GLI2	P10070	p.Gly18Glu	rs762016048	missense variant	-	NC_000002.12:g.120797373G>A	ExAC,gnomAD
GLI2	P10070	p.Ile19Asn	rs750880487	missense variant	-	NC_000002.12:g.120797376T>A	ExAC,gnomAD
GLI2	P10070	p.Leu20Pro	rs1309816028	missense variant	-	NC_000002.12:g.120797379T>C	gnomAD
GLI2	P10070	p.Leu20Val	rs754532059	missense variant	-	NC_000002.12:g.120797378C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu21Gln	rs766983639	missense variant	-	NC_000002.12:g.120797381G>C	ExAC,gnomAD
GLI2	P10070	p.Glu21Lys	rs766983639	missense variant	-	NC_000002.12:g.120797381G>A	ExAC,gnomAD
GLI2	P10070	p.Ala23Thr	rs201834541	missense variant	-	NC_000002.12:g.120797387G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro26Arg	rs1234816850	missense variant	-	NC_000002.12:g.120797397C>G	TOPMed
GLI2	P10070	p.Asp27Tyr	rs752505618	missense variant	-	NC_000002.12:g.120797399G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp27Asn	rs752505618	missense variant	-	NC_000002.12:g.120797399G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro28Leu	rs778954239	missense variant	-	NC_000002.12:g.120797403C>T	ExAC,gnomAD
GLI2	P10070	p.Gly29Asp	rs772341885	missense variant	-	NC_000002.12:g.120797406G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys30Gln	rs201053024	missense variant	-	NC_000002.12:g.120797408A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala32Ser	rs1013531220	missense variant	-	NC_000002.12:g.120797414G>T	TOPMed,gnomAD
GLI2	P10070	p.Ala32Thr	rs1013531220	missense variant	-	NC_000002.12:g.120797414G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala32Gly	rs1477842571	missense variant	-	NC_000002.12:g.120797415C>G	gnomAD
GLI2	P10070	p.Val36Leu	rs1372666702	missense variant	-	NC_000002.12:g.120797426G>T	TOPMed
GLI2	P10070	p.Val37Met	rs768926635	missense variant	-	NC_000002.12:g.120797429G>A	ExAC,gnomAD
GLI2	P10070	p.Ala38Thr	rs1403966758	missense variant	-	NC_000002.12:g.120797432G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala39Val	rs1448772862	missense variant	-	NC_000002.12:g.120797436C>T	TOPMed
GLI2	P10070	p.Ala40Glu	rs146868972	missense variant	-	NC_000002.12:g.120797439C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala40Val	rs146868972	missense variant	-	NC_000002.12:g.120797439C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala40Thr	rs776675838	missense variant	-	NC_000002.12:g.120797438G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala41Thr	rs1444450120	missense variant	-	NC_000002.12:g.120797441G>A	gnomAD
GLI2	P10070	p.Ala42Val	rs765497124	missense variant	-	NC_000002.12:g.120797445C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala43Val	rs1232098625	missense variant	-	NC_000002.12:g.120797448C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala44Val	rs200095340	missense variant	-	NC_000002.12:g.120797451C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala46Thr	rs752220445	missense variant	-	NC_000002.12:g.120797456G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala47Val	rs990168694	missense variant	-	NC_000002.12:g.120797460C>T	TOPMed
GLI2	P10070	p.Ala47Ser	rs1257815002	missense variant	-	NC_000002.12:g.120797459G>T	gnomAD
GLI2	P10070	p.Gln48Glu	rs755515251	missense variant	-	NC_000002.12:g.120797462C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln48Ter	rs755515251	stop gained	-	NC_000002.12:g.120797462C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln48Arg	rs1463824757	missense variant	-	NC_000002.12:g.120797463A>G	TOPMed
GLI2	P10070	p.Val50Met	rs1348627341	missense variant	-	NC_000002.12:g.120797468G>A	TOPMed,gnomAD
GLI2	P10070	p.Pro51Leu	rs780172791	missense variant	-	NC_000002.12:g.120927364C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro51Arg	rs780172791	missense variant	-	NC_000002.12:g.120927364C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His53Arg	rs755135160	missense variant	-	NC_000002.12:g.120927370A>G	ExAC
GLI2	P10070	p.His53Asp	rs971730244	missense variant	-	NC_000002.12:g.120927369C>G	TOPMed
GLI2	P10070	p.Leu54Val	rs781117793	missense variant	-	NC_000002.12:g.120927372C>G	ExAC,gnomAD
GLI2	P10070	p.Pro56Thr	rs748468288	missense variant	-	NC_000002.12:g.120927378C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro56Leu	rs141890398	missense variant	-	NC_000002.12:g.120927379C>T	ESP
GLI2	P10070	p.His59Arg	rs777912029	missense variant	-	NC_000002.12:g.120927388A>G	ExAC,gnomAD
GLI2	P10070	p.Ala60Pro	rs540925998	missense variant	-	NC_000002.12:g.120927390G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala60Glu	rs1216175506	missense variant	-	NC_000002.12:g.120927391C>A	TOPMed,gnomAD
GLI2	P10070	p.Ala60Val	rs1216175506	missense variant	-	NC_000002.12:g.120927391C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala60Thr	rs540925998	missense variant	-	NC_000002.12:g.120927390G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro61Thr	rs1486772738	missense variant	-	NC_000002.12:g.120927393C>A	gnomAD
GLI2	P10070	p.Pro63Leu	rs147224778	missense variant	-	NC_000002.12:g.120927400C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro63Gln	rs147224778	missense variant	-	NC_000002.12:g.120927400C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met66Thr	rs1381958760	missense variant	-	NC_000002.12:g.120927409T>C	gnomAD
GLI2	P10070	p.Met66Val	rs768282760	missense variant	-	NC_000002.12:g.120927408A>G	ExAC,gnomAD
GLI2	P10070	p.Arg67Ter	rs1440006888	stop gained	-	NC_000002.12:g.120927411C>T	gnomAD
GLI2	P10070	p.Arg67Gln	rs776012263	missense variant	-	NC_000002.12:g.120927412G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg67Pro	rs776012263	missense variant	-	NC_000002.12:g.120927412G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln69Arg	rs1358300603	missense variant	-	NC_000002.12:g.120927418A>G	gnomAD
GLI2	P10070	p.Glu70Lys	rs761330896	missense variant	-	NC_000002.12:g.120927420G>A	ExAC,gnomAD
GLI2	P10070	p.Glu70Gln	rs761330896	missense variant	-	NC_000002.12:g.120927420G>C	ExAC,gnomAD
GLI2	P10070	p.Tyr73Phe	rs1302961678	missense variant	-	NC_000002.12:g.120927430A>T	gnomAD
GLI2	P10070	p.His74Tyr	rs201945889	missense variant	-	NC_000002.12:g.120927432C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His74Arg	rs377700501	missense variant	-	NC_000002.12:g.120927433A>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His74Gln	rs762881299	missense variant	-	NC_000002.12:g.120927434T>A	ExAC,gnomAD
GLI2	P10070	p.Tyr75Ter	rs751570899	stop gained	-	NC_000002.12:g.120927437C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu76Lys	rs545152026	missense variant	-	NC_000002.12:g.120927438G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro77Leu	rs767419996	missense variant	-	NC_000002.12:g.120927442C>T	ExAC,gnomAD
GLI2	P10070	p.His78Tyr	rs1052944701	missense variant	-	NC_000002.12:g.120927444C>T	TOPMed
GLI2	P10070	p.Ser79Phe	rs1388007950	missense variant	-	NC_000002.12:g.120927448C>T	gnomAD
GLI2	P10070	p.Gly82Ser	rs531807595	missense variant	-	NC_000002.12:g.120927456G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val83Ala	rs999987091	missense variant	-	NC_000002.12:g.120927460T>C	gnomAD
GLI2	P10070	p.Val83Met	rs777998245	missense variant	-	NC_000002.12:g.120927459G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His84Tyr	rs1201695981	missense variant	-	NC_000002.12:g.120927462C>T	gnomAD
GLI2	P10070	p.Gly85Arg	rs200540682	missense variant	-	NC_000002.12:g.120927465G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro86Leu	rs757479194	missense variant	-	NC_000002.12:g.120951245C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala88Asp	rs779428379	missense variant	-	NC_000002.12:g.120951251C>A	gnomAD
GLI2	P10070	p.Ser90Arg	rs1317321309	missense variant	-	NC_000002.12:g.120951256A>C	TOPMed,gnomAD
GLI2	P10070	p.Gly91Ser	rs540240518	missense variant	-	NC_000002.12:g.120951259G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ser92Arg	rs1323424391	missense variant	-	NC_000002.12:g.120951264C>A	gnomAD
GLI2	P10070	p.Pro93Ala	rs1222100502	missense variant	-	NC_000002.12:g.120951265C>G	gnomAD
GLI2	P10070	p.Ile95Met	rs780467517	missense variant	-	NC_000002.12:g.120951273C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile98Phe	rs1050289427	missense variant	-	NC_000002.12:g.120951280A>T	TOPMed,gnomAD
GLI2	P10070	p.Ile98Val	rs1050289427	missense variant	-	NC_000002.12:g.120951280A>G	TOPMed,gnomAD
GLI2	P10070	p.Arg102Pro	rs148442092	missense variant	-	NC_000002.12:g.120951293G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg102Leu	rs148442092	missense variant	-	NC_000002.12:g.120951293G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg102Trp	rs368449972	missense variant	-	NC_000002.12:g.120951292C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg102Gln	rs148442092	missense variant	-	NC_000002.12:g.120951293G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu103Pro	rs748739602	missense variant	-	NC_000002.12:g.120951296T>C	ExAC,gnomAD
GLI2	P10070	p.Leu103His	rs748739602	missense variant	-	NC_000002.12:g.120951296T>A	ExAC,gnomAD
GLI2	P10070	p.Pro105Ser	rs1348461474	missense variant	-	NC_000002.12:g.120951301C>T	gnomAD
GLI2	P10070	p.Pro105Leu	rs370693310	missense variant	-	NC_000002.12:g.120951302C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His106Gln	rs759277639	missense variant	-	NC_000002.12:g.120951306C>A	ExAC,gnomAD
GLI2	P10070	p.Pro107Ala	rs767309313	missense variant	-	NC_000002.12:g.120951307C>G	ExAC,TOPMed
GLI2	P10070	p.Pro107Leu	rs374562179	missense variant	-	NC_000002.12:g.120951308C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala108Thr	rs574293436	missense variant	-	NC_000002.12:g.120951310G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Gly109Val	rs1381307821	missense variant	-	NC_000002.12:g.120951314G>T	gnomAD
GLI2	P10070	p.Pro110Ala	rs143139718	missense variant	-	NC_000002.12:g.120951316C>G	ESP,TOPMed,gnomAD
GLI2	P10070	p.Pro110Arg	rs753931354	missense variant	-	NC_000002.12:g.120951317C>G	ExAC,gnomAD
GLI2	P10070	p.Pro110Ser	rs143139718	missense variant	-	NC_000002.12:g.120951316C>T	ESP,TOPMed,gnomAD
GLI2	P10070	p.Pro110Leu	rs753931354	missense variant	-	NC_000002.12:g.120951317C>T	ExAC,gnomAD
GLI2	P10070	p.Gly111Glu	rs1183446012	missense variant	-	NC_000002.12:g.120951320G>A	TOPMed
GLI2	P10070	p.Pro114Arg	rs1356938307	missense variant	-	NC_000002.12:g.120951329C>G	gnomAD
GLI2	P10070	p.Ala117Gly	rs750629679	missense variant	-	NC_000002.12:g.120951338C>G	ExAC,gnomAD
GLI2	P10070	p.Ala117Thr	rs775984106	missense variant	-	NC_000002.12:g.120951337G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro118Ser	rs940582075	missense variant	-	NC_000002.12:g.120951340C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro118Arg	rs758739873	missense variant	-	NC_000002.12:g.120951341C>G	ExAC,gnomAD
GLI2	P10070	p.His119Asp	rs780453822	missense variant	-	NC_000002.12:g.120951343C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His119Arg	rs1473431556	missense variant	-	NC_000002.12:g.120951344A>G	gnomAD
GLI2	P10070	p.His119Asn	rs780453822	missense variant	-	NC_000002.12:g.120951343C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro120Leu	rs905463731	missense variant	-	NC_000002.12:g.120951347C>T	TOPMed,gnomAD
GLI2	P10070	p.Tyr121Ter	rs748827715	stop gained	-	NC_000002.12:g.120951351C>G	ExAC,gnomAD
GLI2	P10070	p.Val122Met	rs778467271	missense variant	-	NC_000002.12:g.120951352G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val122Leu	rs778467271	missense variant	-	NC_000002.12:g.120951352G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro124Ala	rs771817329	missense variant	-	NC_000002.12:g.120951358C>G	ExAC,gnomAD
GLI2	P10070	p.Met126Ile	rs1380215998	missense variant	-	NC_000002.12:g.120951366G>A	TOPMed
GLI2	P10070	p.Met126Val	rs775273286	missense variant	-	NC_000002.12:g.120951364A>G	ExAC,gnomAD
GLI2	P10070	p.His128Tyr	rs895231080	missense variant	-	NC_000002.12:g.120951370C>T	TOPMed
GLI2	P10070	p.Arg131Gly	rs760408401	missense variant	-	NC_000002.12:g.120951379C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg131His	rs149180414	missense variant	-	NC_000002.12:g.120951380G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg131Cys	rs760408401	missense variant	-	NC_000002.12:g.120951379C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser132Tyr	rs369649251	missense variant	-	NC_000002.12:g.120951383C>A	ESP,ExAC,gnomAD
GLI2	P10070	p.His134Tyr	rs374071898	missense variant	-	NC_000002.12:g.120951388C>T	ESP,ExAC,gnomAD
GLI2	P10070	p.Ser135Gly	rs1364039736	missense variant	-	NC_000002.12:g.120951391A>G	TOPMed
GLI2	P10070	p.Ser135Arg	rs750668915	missense variant	-	NC_000002.12:g.120951393C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro137Ser	rs763231787	missense variant	-	NC_000002.12:g.120951397C>T	ExAC,gnomAD
GLI2	P10070	p.Pro137Thr	rs763231787	missense variant	-	NC_000002.12:g.120951397C>A	ExAC,gnomAD
GLI2	P10070	p.Thr138Met	rs148317983	missense variant	-	NC_000002.12:g.120951401C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu139Phe	rs1241902793	missense variant	-	NC_000002.12:g.120951403C>T	gnomAD
GLI2	P10070	p.Ser143Pro	rs1459472259	missense variant	-	NC_000002.12:g.120951415T>C	gnomAD
GLI2	P10070	p.Gly147Val	rs755345187	missense variant	-	NC_000002.12:g.120951428G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly147Cys	rs1380038093	missense variant	-	NC_000002.12:g.120951427G>T	gnomAD
GLI2	P10070	p.Leu148Phe	rs1019196430	missense variant	-	NC_000002.12:g.120951430C>T	TOPMed,gnomAD
GLI2	P10070	p.Ser149Gly	rs968089585	missense variant	-	NC_000002.12:g.120951433A>G	TOPMed
GLI2	P10070	p.Ala151Pro	rs781771721	missense variant	-	NC_000002.12:g.120951439G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala151Val	rs1334776936	missense variant	-	NC_000002.12:g.120951440C>T	gnomAD
GLI2	P10070	p.Ala151Thr	rs781771721	missense variant	-	NC_000002.12:g.120951439G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His157Tyr	rs1197481825	missense variant	-	NC_000002.12:g.120955256C>T	gnomAD
GLI2	P10070	p.Lys159Asn	rs757809797	missense variant	-	NC_000002.12:g.120955264G>C	ExAC
GLI2	P10070	p.Lys159Thr	rs1357449520	missense variant	-	NC_000002.12:g.120955263A>C	TOPMed
GLI2	P10070	p.Glu160Lys	rs1265447957	missense variant	-	NC_000002.12:g.120955265G>A	gnomAD
GLI2	P10070	p.Gly162Arg	rs201413039	missense variant	-	NC_000002.12:g.120955271G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Leu163Gln	rs746643815	missense variant	-	NC_000002.12:g.120955275T>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly165Asp	rs780961532	missense variant	-	NC_000002.12:g.120955281G>A	ExAC,gnomAD
GLI2	P10070	p.Gly165Cys	rs922060710	missense variant	-	NC_000002.12:g.120955280G>T	TOPMed
GLI2	P10070	p.Pro167Ser	rs769784117	missense variant	-	NC_000002.12:g.120955286C>T	ExAC,gnomAD
GLI2	P10070	p.Pro167Thr	rs769784117	missense variant	-	NC_000002.12:g.120955286C>A	ExAC,gnomAD
GLI2	P10070	p.Ala168Ser	rs749416157	missense variant	-	NC_000002.12:g.120955289G>T	ExAC,gnomAD
GLI2	P10070	p.Gly170Arg	rs1400143753	missense variant	-	NC_000002.12:g.120955295G>C	gnomAD
GLI2	P10070	p.Gly170Ser	rs1400143753	missense variant	-	NC_000002.12:g.120955295G>A	gnomAD
GLI2	P10070	p.Thr172Asn	rs200720726	missense variant	-	NC_000002.12:g.120955302C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp175Gly	rs768057626	missense variant	-	NC_000002.12:g.120955311A>G	ExAC,gnomAD
GLI2	P10070	p.His178Asn	rs1323089668	missense variant	-	NC_000002.12:g.120955319C>A	TOPMed
GLI2	P10070	p.His178Tyr	rs1323089668	missense variant	-	NC_000002.12:g.120955319C>T	TOPMed
GLI2	P10070	p.Met180Thr	rs760903616	missense variant	-	NC_000002.12:g.120955326T>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met180Leu	rs565813552	missense variant	-	NC_000002.12:g.120955325A>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met180Lys	rs760903616	missense variant	-	NC_000002.12:g.120955326T>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val183Met	rs754272697	missense variant	-	NC_000002.12:g.120955334G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val183Leu	rs754272697	missense variant	-	NC_000002.12:g.120955334G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala188Val	rs147419287	missense variant	-	NC_000002.12:g.120955350C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala188Thr	rs138974360	missense variant	-	NC_000002.12:g.120955349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro189Leu	rs1350284317	missense variant	-	NC_000002.12:g.120955353C>T	gnomAD
GLI2	P10070	p.Pro189Ser	rs1161429205	missense variant	-	NC_000002.12:g.120955352C>T	gnomAD
GLI2	P10070	p.Gly191Arg	rs202141899	missense variant	-	NC_000002.12:g.120955358G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met195Ile	rs201235005	missense variant	-	NC_000002.12:g.120955372G>A	1000Genomes
GLI2	P10070	p.Gln196His	rs35193793	missense variant	-	NC_000002.12:g.120955375G>C	gnomAD
GLI2	P10070	p.Gln196Lys	rs1335366657	missense variant	-	NC_000002.12:g.120955373C>A	gnomAD
GLI2	P10070	p.Ser197Thr	rs556019545	missense variant	-	NC_000002.12:g.120955377G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser197Asn	rs556019545	missense variant	-	NC_000002.12:g.120955377G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser197Arg	rs745872978	missense variant	-	NC_000002.12:g.120955378C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly198Arg	rs567800401	missense variant	-	NC_000002.12:g.120955379G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly199Asp	rs1331531799	missense variant	-	NC_000002.12:g.120955383G>A	TOPMed
GLI2	P10070	p.Gly199Ser	rs542892514	missense variant	-	NC_000002.12:g.120955382G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala200Thr	rs111840592	missense variant	-	NC_000002.12:g.120955385G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala203Thr	rs147044066	missense variant	-	NC_000002.12:g.120955394G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala203Val	rs1399406886	missense variant	-	NC_000002.12:g.120955395C>T	TOPMed
GLI2	P10070	p.Pro204Ser	rs1280539932	missense variant	-	NC_000002.12:g.120955397C>T	gnomAD
GLI2	P10070	p.His207Gln	rs767227926	missense variant	-	NC_000002.12:g.120955408C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His207Gln	rs767227926	missense variant	-	NC_000002.12:g.120955408C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp208Asn	rs1021891477	missense variant	-	NC_000002.12:g.120955409G>A	TOPMed,gnomAD
GLI2	P10070	p.Asn211Asp	rs1157846277	missense variant	-	NC_000002.12:g.120955418A>G	gnomAD
GLI2	P10070	p.Pro212Ala	rs1234597039	missense variant	-	NC_000002.12:g.120955421C>G	gnomAD
GLI2	P10070	p.Val213Leu	rs202139687	missense variant	-	NC_000002.12:g.120955424G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val213Ala	rs757261582	missense variant	-	NC_000002.12:g.120955425T>C	ExAC,gnomAD
GLI2	P10070	p.Val213Met	rs202139687	missense variant	-	NC_000002.12:g.120955424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val215Gly	rs781426186	missense variant	-	NC_000002.12:g.120968714T>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val215Met	rs778948635	missense variant	-	NC_000002.12:g.120955430G>A	ExAC,gnomAD
GLI2	P10070	p.Arg217His	rs145779352	missense variant	-	NC_000002.12:g.120968720G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg217Gly	rs149819397	missense variant	-	NC_000002.12:g.120968719C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg217Cys	rs149819397	missense variant	-	NC_000002.12:g.120968719C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser220Arg	rs1244856449	missense variant	-	NC_000002.12:g.120968728A>C	TOPMed,gnomAD
GLI2	P10070	p.Ser220Arg	rs868349213	missense variant	-	NC_000002.12:g.120968730C>G	TOPMed
GLI2	P10070	p.Pro221Ser	rs771675078	missense variant	-	NC_000002.12:g.120968731C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro221Leu	rs774865060	missense variant	-	NC_000002.12:g.120968732C>T	ExAC,gnomAD
GLI2	P10070	p.Arg222Gly	rs763688196	missense variant	-	NC_000002.12:g.120968734C>G	ExAC,gnomAD
GLI2	P10070	p.Arg222Leu	rs1213874652	missense variant	-	NC_000002.12:g.120968735G>T	gnomAD
GLI2	P10070	p.Arg222Trp	rs763688196	missense variant	-	NC_000002.12:g.120968734C>T	ExAC,gnomAD
GLI2	P10070	p.Val223Met	rs1293201291	missense variant	-	NC_000002.12:g.120968737G>A	TOPMed,gnomAD
GLI2	P10070	p.Val223Leu	rs1293201291	missense variant	-	NC_000002.12:g.120968737G>T	TOPMed,gnomAD
GLI2	P10070	p.Thr224Met	rs370333257	missense variant	-	NC_000002.12:g.120968741C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro225Ala	rs765114744	missense variant	-	NC_000002.12:g.120968743C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro225Leu	rs750454406	missense variant	-	NC_000002.12:g.120968744C>T	ExAC,gnomAD
GLI2	P10070	p.Arg226Cys	rs758273853	missense variant	-	NC_000002.12:g.120968746C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg226His	rs766283583	missense variant	-	NC_000002.12:g.120968747G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg229Cys	rs751614251	missense variant	-	NC_000002.12:g.120968755C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg229His	rs755043644	missense variant	-	NC_000002.12:g.120968756G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg231Gly	rs781430951	missense variant	-	NC_000002.12:g.120968761C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg231Gln	rs756527906	missense variant	-	NC_000002.12:g.120968762G>A	ExAC,gnomAD
GLI2	P10070	p.Arg231Trp	rs781430951	missense variant	-	NC_000002.12:g.120968761C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala232Val	rs778102879	missense variant	-	NC_000002.12:g.120968765C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala232Thr	rs1163330892	missense variant	-	NC_000002.12:g.120968764G>A	gnomAD
GLI2	P10070	p.Ser234Ala	rs1163351470	missense variant	-	NC_000002.12:g.120968770T>G	gnomAD
GLI2	P10070	p.Pro237Arg	rs1344630169	missense variant	-	NC_000002.12:g.120968780C>G	gnomAD
GLI2	P10070	p.Asp240Gly	rs774868889	missense variant	-	NC_000002.12:g.120968789A>G	ExAC,gnomAD
GLI2	P10070	p.Ala241Thr	rs768192957	missense variant	-	NC_000002.12:g.120968791G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp244His	rs1246514029	missense variant	-	NC_000002.12:g.120968800G>C	gnomAD
GLI2	P10070	p.Asp244Val	rs564228727	missense variant	-	NC_000002.12:g.120968801A>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Leu245Met	rs372967229	missense variant	-	NC_000002.12:g.120968803C>A	ESP,ExAC,gnomAD
GLI2	P10070	p.Gln246Leu	rs1259680584	missense variant	-	NC_000002.12:g.120968807A>T	TOPMed
GLI2	P10070	p.Arg247Trp	rs138556334	missense variant	-	NC_000002.12:g.120968809C>T	ESP,ExAC,gnomAD
GLI2	P10070	p.Arg247Gln	rs1445852776	missense variant	-	NC_000002.12:g.120968810G>A	TOPMed,gnomAD
GLI2	P10070	p.Met248Val	rs762762887	missense variant	-	NC_000002.12:g.120968812A>G	ExAC,gnomAD
GLI2	P10070	p.Ile249Thr	rs1239783603	missense variant	-	NC_000002.12:g.120968816T>C	gnomAD
GLI2	P10070	p.Thr251Ser	rs766257727	missense variant	-	NC_000002.12:g.120968821A>T	ExAC,gnomAD
GLI2	P10070	p.Pro253Ser	rs751482056	missense variant	-	NC_000002.12:g.120968827C>T	ExAC,gnomAD
GLI2	P10070	p.Asn254Ser	rs755062619	missense variant	-	NC_000002.12:g.120968831A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser255Leu	rs767570213	missense variant	-	NC_000002.12:g.120968834C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala258Val	rs1408271855	missense variant	-	NC_000002.12:g.120968843C>T	gnomAD
GLI2	P10070	p.Ile260Val	rs543734429	missense variant	-	NC_000002.12:g.120968848A>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile260Leu	rs543734429	missense variant	-	NC_000002.12:g.120968848A>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn262Lys	rs746377399	missense variant	-	NC_000002.12:g.120968856C>A	ExAC,gnomAD
GLI2	P10070	p.Asn262Ser	rs779340470	missense variant	-	NC_000002.12:g.120968855A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg264Gln	rs1279844511	missense variant	-	NC_000002.12:g.120968861G>A	gnomAD
GLI2	P10070	p.Ser265Arg	rs1349492097	missense variant	-	NC_000002.12:g.120968863A>C	gnomAD
GLI2	P10070	p.Ser266Ile	rs1227505337	missense variant	-	NC_000002.12:g.120968867G>T	gnomAD
GLI2	P10070	p.Ala268Val	rs146992756	missense variant	-	NC_000002.12:g.120968873C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala269Val	rs1261672861	missense variant	-	NC_000002.12:g.120968876C>T	gnomAD
GLI2	P10070	p.Ser270Ile	rs1182974996	missense variant	-	NC_000002.12:g.120968879G>T	gnomAD
GLI2	P10070	p.Gly271Ser	rs144406619	missense variant	-	NC_000002.12:g.120968881G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser277Leu	rs552495842	missense variant	-	NC_000002.12:g.120968900C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ala278Val	rs759512271	missense variant	-	NC_000002.12:g.120968903C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly279Cys	rs1195630588	missense variant	-	NC_000002.12:g.120968905G>T	gnomAD
GLI2	P10070	p.Ala280Thr	rs767371997	missense variant	-	NC_000002.12:g.120968908G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala280Val	rs1329278333	missense variant	-	NC_000002.12:g.120968909C>T	gnomAD
GLI2	P10070	p.Ala280Pro	rs767371997	missense variant	-	NC_000002.12:g.120968908G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Phe287Ser	rs1385529467	missense variant	-	NC_000002.12:g.120970407T>C	gnomAD
GLI2	P10070	p.His289Pro	rs1473799452	missense variant	-	NC_000002.12:g.120970413A>C	TOPMed
GLI2	P10070	p.Pro290Leu	rs752088509	missense variant	-	NC_000002.12:g.120970416C>T	ExAC,gnomAD
GLI2	P10070	p.Ile291Phe	rs200853289	missense variant	-	NC_000002.12:g.120970418A>T	TOPMed,gnomAD
GLI2	P10070	p.Ile291Leu	rs200853289	missense variant	-	NC_000002.12:g.120970418A>C	TOPMed,gnomAD
GLI2	P10070	p.Val294Met	rs367810027	missense variant	-	NC_000002.12:g.120970427G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln297Pro	rs748678120	missense variant	-	NC_000002.12:g.120970437A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln298Lys	rs1357058931	missense variant	-	NC_000002.12:g.120970439C>A	gnomAD
GLI2	P10070	p.Ile299Thr	rs371747744	missense variant	-	NC_000002.12:g.120970443T>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile299Asn	rs371747744	missense variant	-	NC_000002.12:g.120970443T>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser301Gly	rs746947997	missense variant	-	NC_000002.12:g.120970448A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser301Arg	rs768416096	missense variant	-	NC_000002.12:g.120970450C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser301Cys	rs746947997	missense variant	-	NC_000002.12:g.120970448A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln302His	rs375328592	missense variant	-	NC_000002.12:g.120970453G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln303Pro	rs761750550	missense variant	-	NC_000002.12:g.120970455A>C	ExAC,gnomAD
GLI2	P10070	p.Arg304Lys	rs765528898	missense variant	-	NC_000002.12:g.120970458G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly305Ser	rs773277858	missense variant	-	NC_000002.12:g.120970460G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly305Cys	rs773277858	missense variant	-	NC_000002.12:g.120970460G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly307Arg	rs201331588	missense variant	-	NC_000002.12:g.120970466G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Phe310Ser	rs1243486087	missense variant	-	NC_000002.12:g.120970476T>C	gnomAD
GLI2	P10070	p.Pro314Ser	rs746686990	missense variant	-	NC_000002.12:g.120970487C>T	ExAC,gnomAD
GLI2	P10070	p.Pro315Thr	rs1161213308	missense variant	-	NC_000002.12:g.120970490C>A	gnomAD
GLI2	P10070	p.Leu316Val	rs367854976	missense variant	-	NC_000002.12:g.120970493C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile317Met	rs755546739	missense variant	-	NC_000002.12:g.120970498C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro321Leu	rs767850109	missense variant	-	NC_000002.12:g.120970509C>T	ExAC,gnomAD
GLI2	P10070	p.Pro321Ala	rs1383493075	missense variant	-	NC_000002.12:g.120970508C>G	TOPMed,gnomAD
GLI2	P10070	p.Phe323Ser	rs1004316414	missense variant	-	NC_000002.12:g.120970515T>C	gnomAD
GLI2	P10070	p.Leu324Pro	rs144970612	missense variant	-	NC_000002.12:g.120970518T>C	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ala325Thr	rs1206940501	missense variant	-	NC_000002.12:g.120970520G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala325Val	rs745509639	missense variant	-	NC_000002.12:g.120970521C>T	ExAC
GLI2	P10070	p.Met329Leu	rs377150486	missense variant	-	NC_000002.12:g.120970532A>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met329Val	rs377150486	missense variant	-	NC_000002.12:g.120970532A>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met329Thr	rs1259004125	missense variant	-	NC_000002.12:g.120970533T>C	gnomAD
GLI2	P10070	p.Ala330Asp	rs746753743	missense variant	-	NC_000002.12:g.120970536C>A	ExAC,gnomAD
GLI2	P10070	p.Leu331Val	rs768661123	missense variant	-	NC_000002.12:g.120970538C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr332Ala	rs1199076730	missense variant	-	NC_000002.12:g.120970541A>G	TOPMed
GLI2	P10070	p.Ile334Val	rs769741962	missense variant	-	NC_000002.12:g.120970547A>G	ExAC,gnomAD
GLI2	P10070	p.Asn335Asp	rs142356900	missense variant	-	NC_000002.12:g.120970550A>G	ESP
GLI2	P10070	p.Thr337Met	rs1419274436	missense variant	-	NC_000002.12:g.120970557C>T	gnomAD
GLI2	P10070	p.Thr339Ser	rs773624892	missense variant	-	NC_000002.12:g.120970562A>T	ExAC,gnomAD
GLI2	P10070	p.Gln340Arg	rs1271783575	missense variant	-	NC_000002.12:g.120970566A>G	TOPMed
GLI2	P10070	p.Gln340Lys	rs1361512980	missense variant	-	NC_000002.12:g.120970565C>A	gnomAD
GLI2	P10070	p.Leu341Arg	rs1186006851	missense variant	-	NC_000002.12:g.120970569T>G	TOPMed,gnomAD
GLI2	P10070	p.Ser342Arg	rs1471252389	missense variant	-	NC_000002.12:g.120970573C>A	gnomAD
GLI2	P10070	p.Ser344Gly	rs763261944	missense variant	-	NC_000002.12:g.120970577A>G	ExAC,gnomAD
GLI2	P10070	p.Ser344Thr	rs766641468	missense variant	-	NC_000002.12:g.120970578G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser344Asn	rs766641468	missense variant	-	NC_000002.12:g.120970578G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr351Ile	rs1260054187	missense variant	-	NC_000002.12:g.120970599C>T	gnomAD
GLI2	P10070	p.Thr351Ser	rs1367284256	missense variant	-	NC_000002.12:g.120970598A>T	TOPMed
GLI2	P10070	p.Asn352Lys	rs774869560	missense variant	-	NC_000002.12:g.120970603C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn352Lys	rs774869560	missense variant	-	NC_000002.12:g.120970603C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser357Gly	rs1294621829	missense variant	-	NC_000002.12:g.120971950A>G	TOPMed
GLI2	P10070	p.Ser358Arg	rs1382389036	missense variant	-	NC_000002.12:g.120971953A>C	TOPMed
GLI2	P10070	p.Ser360Leu	rs745666636	missense variant	-	NC_000002.12:g.120971960C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser360Pro	rs751191667	missense variant	-	NC_000002.12:g.120971959T>C	ExAC,gnomAD
GLI2	P10070	p.Val362Ile	rs370677655	missense variant	-	NC_000002.12:g.120971965G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val362Leu	rs370677655	missense variant	-	NC_000002.12:g.120971965G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser364Asn	rs1287694586	missense variant	-	NC_000002.12:g.120971972G>A	gnomAD
GLI2	P10070	p.Ser364Gly	rs1415148371	missense variant	-	NC_000002.12:g.120971971A>G	gnomAD
GLI2	P10070	p.Val366Ile	rs779324521	missense variant	-	NC_000002.12:g.120971977G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro368Ala	rs746061778	missense variant	-	NC_000002.12:g.120971983C>G	ExAC,gnomAD
GLI2	P10070	p.Val369Ala	rs377454502	missense variant	-	NC_000002.12:g.120971987T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala370Thr	rs199931941	missense variant	-	NC_000002.12:g.120971989G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys373Asn	rs1199044920	missense variant	-	NC_000002.12:g.120972000G>C	TOPMed
GLI2	P10070	p.Arg374His	rs370220133	missense variant	-	NC_000002.12:g.120972002G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg374Cys	rs200076785	missense variant	-	NC_000002.12:g.120972001C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser375Gly	rs1361186300	missense variant	-	NC_000002.12:g.120972004A>G	gnomAD
GLI2	P10070	p.Thr379Asn	rs751294369	missense variant	-	NC_000002.12:g.120972017C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu380Gln	rs374155310	missense variant	-	NC_000002.12:g.120972019G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu380Ter	rs374155310	stop gained	-	NC_000002.12:g.120972019G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu380Lys	rs374155310	missense variant	-	NC_000002.12:g.120972019G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu382Gly	rs367665653	missense variant	-	NC_000002.12:g.120972026A>G	ESP,ExAC,gnomAD
GLI2	P10070	p.Gly383Asp	rs907487597	missense variant	-	NC_000002.12:g.120972029G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly383Val	rs907487597	missense variant	-	NC_000002.12:g.120972029G>T	TOPMed,gnomAD
GLI2	P10070	p.Arg385Trp	rs137925421	missense variant	-	NC_000002.12:g.120972034C>T	ESP,TOPMed
GLI2	P10070	p.Arg385Leu	rs755928574	missense variant	-	NC_000002.12:g.120972035G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg385Gln	rs755928574	missense variant	-	NC_000002.12:g.120972035G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro386Leu	rs757467621	missense variant	-	NC_000002.12:g.120972038C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro386Arg	rs757467621	missense variant	-	NC_000002.12:g.120972038C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro386Ser	rs188531549	missense variant	-	NC_000002.12:g.120972037C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Pro386Thr	rs188531549	missense variant	-	NC_000002.12:g.120972037C>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ala387Thr	rs745905276	missense variant	-	NC_000002.12:g.120972040G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala391Val	rs1452917426	missense variant	-	NC_000002.12:g.120972053C>T	gnomAD
GLI2	P10070	p.Ala391Thr	rs140041523	missense variant	-	NC_000002.12:g.120972052G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu392Val	rs747373831	missense variant	-	NC_000002.12:g.120972055C>G	ExAC,gnomAD
GLI2	P10070	p.Thr393Met	rs571690193	missense variant	-	NC_000002.12:g.120972059C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr393Ala	rs889635986	missense variant	-	NC_000002.12:g.120972058A>G	TOPMed,gnomAD
GLI2	P10070	p.Gly395Asp	rs201823427	missense variant	-	NC_000002.12:g.120974925G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val397Met	rs779618442	missense variant	-	NC_000002.12:g.120974930G>A	ExAC,gnomAD
GLI2	P10070	p.Val397Leu	rs779618442	missense variant	-	NC_000002.12:g.120974930G>T	ExAC,gnomAD
GLI2	P10070	p.Val397Gly	rs746470846	missense variant	-	NC_000002.12:g.120974931T>G	ExAC,gnomAD
GLI2	P10070	p.His400Asp	rs768456013	missense variant	-	NC_000002.12:g.120974939C>G	ExAC,gnomAD
GLI2	P10070	p.Gly401Arg	rs761748900	missense variant	-	NC_000002.12:g.120974942G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly401Ser	rs761748900	missense variant	-	NC_000002.12:g.120974942G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser402Leu	rs921806538	missense variant	-	NC_000002.12:g.120974946C>T	-
GLI2	P10070	p.Gly404Glu	rs1193676979	missense variant	-	NC_000002.12:g.120974952G>A	TOPMed,gnomAD
GLI2	P10070	p.Cys405Tyr	rs1447300845	missense variant	-	NC_000002.12:g.120974955G>A	gnomAD
GLI2	P10070	p.Ala406Pro	rs773093578	missense variant	-	NC_000002.12:g.120974957G>C	ExAC,gnomAD
GLI2	P10070	p.Glu412Lys	rs1385470181	missense variant	-	NC_000002.12:g.120974975G>A	gnomAD
GLI2	P10070	p.Glu412Gly	rs774219521	missense variant	-	NC_000002.12:g.120974976A>G	TOPMed
GLI2	P10070	p.Gln413Pro	rs1007884555	missense variant	-	NC_000002.12:g.120974979A>C	TOPMed
GLI2	P10070	p.Leu414Val	rs762955703	missense variant	-	NC_000002.12:g.120974981C>G	ExAC,gnomAD
GLI2	P10070	p.Asp416His	rs766171973	missense variant	-	NC_000002.12:g.120974987G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp416Asn	rs766171973	missense variant	-	NC_000002.12:g.120974987G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys418Arg	rs751658121	missense variant	-	NC_000002.12:g.120974994A>G	ExAC,gnomAD
GLI2	P10070	p.Glu419Asp	rs767762452	missense variant	-	NC_000002.12:g.120974998A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp420His	rs752889300	missense variant	-	NC_000002.12:g.120974999G>C	ExAC,gnomAD
GLI2	P10070	p.Asp422Gly	rs145528480	missense variant	-	NC_000002.12:g.120975006A>G	ESP,TOPMed
GLI2	P10070	p.Arg423Lys	rs576376100	missense variant	-	NC_000002.12:g.120975009G>A	gnomAD
GLI2	P10070	p.Cys426Tyr	rs1463286358	missense variant	-	NC_000002.12:g.120975018G>A	gnomAD
GLI2	P10070	p.Lys427Glu	rs1282875351	missense variant	-	NC_000002.12:g.120975020A>G	TOPMed
GLI2	P10070	p.Glu429Asp	rs756492771	missense variant	-	NC_000002.12:g.120975028G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu429Lys	rs1454910951	missense variant	-	NC_000002.12:g.120975026G>A	gnomAD
GLI2	P10070	p.Val432Leu	rs142296407	missense variant	-	NC_000002.12:g.120975035G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val432Met	rs142296407	missense variant	-	NC_000002.12:g.120975035G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile434Ser	rs1242748019	missense variant	-	NC_000002.12:g.120975042T>G	gnomAD
GLI2	P10070	p.Ile434Thr	rs1242748019	missense variant	-	NC_000002.12:g.120975042T>C	gnomAD
GLI2	P10070	p.Tyr435Cys	rs759585885	missense variant	-	NC_000002.12:g.120975045A>G	TOPMed,gnomAD
GLI2	P10070	p.Thr437Ala	rs1262532405	missense variant	-	NC_000002.12:g.120975050A>G	gnomAD
GLI2	P10070	p.Asn438Lys	rs140424202	missense variant	-	NC_000002.12:g.120975055C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn438Ser	rs757806597	missense variant	-	NC_000002.12:g.120975054A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn438Thr	rs757806597	missense variant	-	NC_000002.12:g.120975054A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Trp441Arg	rs992154166	missense variant	-	NC_000002.12:g.120975062T>C	TOPMed
GLI2	P10070	p.Asp443His	rs1175274916	missense variant	-	NC_000002.12:g.120975068G>C	TOPMed
GLI2	P10070	p.Glu447Asp	rs1463431653	missense variant	-	NC_000002.12:g.120975082G>T	gnomAD
GLI2	P10070	p.Asp449Tyr	rs13427953	missense variant	-	NC_000002.12:g.120975086G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp449Asn	rs13427953	missense variant	-	NC_000002.12:g.120975086G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp449His	rs13427953	missense variant	-	NC_000002.12:g.120975086G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr450Ala	rs747836252	missense variant	-	NC_000002.12:g.120975089A>G	ExAC,gnomAD
GLI2	P10070	p.Glu452Asp	rs769266684	missense variant	-	NC_000002.12:g.120975097G>T	ExAC,gnomAD
GLI2	P10070	p.Leu454Val	rs1159158222	missense variant	-	NC_000002.12:g.120975101C>G	TOPMed,gnomAD
GLI2	P10070	p.His456Tyr	rs748984559	missense variant	-	NC_000002.12:g.120975107C>T	ExAC,gnomAD
GLI2	P10070	p.Glu461Lys	rs1192219672	missense variant	-	NC_000002.12:g.120978446G>A	TOPMed,gnomAD
GLI2	P10070	p.Ile463Val	rs750753215	missense variant	-	NC_000002.12:g.120978452A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly465Arg	rs547124108	missense variant	-	NC_000002.12:g.120978458G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly465Arg	rs547124108	missense variant	-	NC_000002.12:g.120978458G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu466Lys	rs755545613	missense variant	-	NC_000002.12:g.120978461G>A	ExAC,gnomAD
GLI2	P10070	p.Lys467Thr	rs777526546	missense variant	-	NC_000002.12:g.120978465A>C	ExAC,gnomAD
GLI2	P10070	p.Phe470Ser	rs1367454614	missense variant	-	NC_000002.12:g.120978474T>C	gnomAD
GLI2	P10070	p.Arg473His	rs150170739	missense variant	-	NC_000002.12:g.120978483G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg473Leu	rs150170739	missense variant	-	NC_000002.12:g.120978483G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg473Cys	rs370251398	missense variant	-	NC_000002.12:g.120978482C>T	ESP,ExAC,gnomAD
GLI2	P10070	p.Ala476Pro	rs772017351	missense variant	-	NC_000002.12:g.120978491G>C	ExAC,gnomAD
GLI2	P10070	p.Ala476Ser	rs772017351	missense variant	-	NC_000002.12:g.120978491G>T	ExAC,gnomAD
GLI2	P10070	p.Thr478Met	rs565330468	missense variant	-	NC_000002.12:g.120978498C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Arg479Gln	rs762134904	missense variant	-	NC_000002.12:g.120978501G>A	ExAC,gnomAD
GLI2	P10070	p.Arg479Trp	rs121917708	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120978500C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg479Gly	rs121917708	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120978500C>G	UniProt,dbSNP
GLI2	P10070	p.Arg479Gly	VAR_032975	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120978500C>G	UniProt
GLI2	P10070	p.Arg479Gly	rs121917708	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120978500C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln481Arg	rs770087395	missense variant	-	NC_000002.12:g.120978507A>G	ExAC,gnomAD
GLI2	P10070	p.Lys482Thr	rs773737195	missense variant	-	NC_000002.12:g.120978510A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro483Thr	rs1036107866	missense variant	-	NC_000002.12:g.120978512C>A	TOPMed
GLI2	P10070	p.Ala486Val	rs767030770	missense variant	-	NC_000002.12:g.120978522C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu490Val	rs760286217	missense variant	-	NC_000002.12:g.120978533C>G	ExAC,gnomAD
GLI2	P10070	p.Val491Leu	rs1186982779	missense variant	-	NC_000002.12:g.120978536G>C	gnomAD
GLI2	P10070	p.Met494Val	rs753321852	missense variant	-	NC_000002.12:g.120978545A>G	ExAC,gnomAD
GLI2	P10070	p.Arg496Gln	rs1413032761	missense variant	-	NC_000002.12:g.120978552G>A	TOPMed
GLI2	P10070	p.Thr498Met	rs894445064	missense variant	-	NC_000002.12:g.120978558C>T	TOPMed
GLI2	P10070	p.Glu500Lys	rs750260084	missense variant	-	NC_000002.12:g.120978563G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys501Arg	rs1431354607	missense variant	-	NC_000002.12:g.120978567A>G	TOPMed
GLI2	P10070	p.His503Arg	rs780098157	missense variant	-	NC_000002.12:g.120978573A>G	ExAC,gnomAD
GLI2	P10070	p.His503Asn	rs758168887	missense variant	-	NC_000002.12:g.120978572C>A	ExAC,gnomAD
GLI2	P10070	p.Thr506Met	rs764718032	missense variant	-	NC_000002.12:g.120978582C>T	ExAC,gnomAD
GLI2	P10070	p.Glu508Lys	rs781146798	missense variant	-	NC_000002.12:g.120982719G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu508Gln	rs781146798	missense variant	-	NC_000002.12:g.120982719G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly509Arg	rs756237921	missense variant	-	NC_000002.12:g.120982722G>C	ExAC,gnomAD
GLI2	P10070	p.Ser511Leu	rs372925840	missense variant	-	NC_000002.12:g.120982729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser511Trp	rs372925840	missense variant	-	NC_000002.12:g.120982729C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala513Ser	rs774591307	missense variant	-	NC_000002.12:g.120982734G>T	ExAC,gnomAD
GLI2	P10070	p.Arg516Ser	rs746195258	missense variant	-	NC_000002.12:g.120982743C>A	ExAC,TOPMed
GLI2	P10070	p.Arg516Pro	VAR_075214	Missense	Culler-Jones syndrome (CJS) [MIM:615849]	-	UniProt
GLI2	P10070	p.Lys521Gln	rs775943788	missense variant	-	NC_000002.12:g.120982758A>C	ExAC,gnomAD
GLI2	P10070	p.Arg525Gln	rs1335900744	missense variant	-	NC_000002.12:g.120982771G>A	TOPMed
GLI2	P10070	p.Gly529Arg	rs772643710	missense variant	-	NC_000002.12:g.120982782G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly529Arg	rs772643710	missense variant	-	NC_000002.12:g.120982782G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu538Lys	rs896259039	missense variant	-	NC_000002.12:g.120982809G>A	gnomAD
GLI2	P10070	p.Ala543Thr	rs267598855	missense variant	-	NC_000002.12:g.120982824G>A	ExAC,gnomAD
GLI2	P10070	p.Ala543Gly	rs201279367	missense variant	-	NC_000002.12:g.120982825C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala547Thr	rs1436259584	missense variant	-	NC_000002.12:g.120982836G>A	TOPMed,gnomAD
GLI2	P10070	p.Ser548Leu	rs1418648944	missense variant	-	NC_000002.12:g.120982840C>T	gnomAD
GLI2	P10070	p.Arg550Cys	rs564753456	missense variant	-	NC_000002.12:g.120982845C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Arg550His	rs1229340491	missense variant	-	NC_000002.12:g.120982846G>A	gnomAD
GLI2	P10070	p.Ala551Ser	rs1340215600	missense variant	-	NC_000002.12:g.120982848G>T	gnomAD
GLI2	P10070	p.His558Gln	rs1346980944	missense variant	-	NC_000002.12:g.120982871C>A	gnomAD
GLI2	P10070	p.Glu561Lys	rs772471844	missense variant	-	NC_000002.12:g.120982878G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu561Gln	rs772471844	missense variant	-	NC_000002.12:g.120982878G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro563Leu	rs771789679	missense variant	-	NC_000002.12:g.120984475C>T	ExAC,gnomAD
GLI2	P10070	p.Tyr564Asp	rs1015526827	missense variant	-	NC_000002.12:g.120984477T>G	TOPMed
GLI2	P10070	p.Tyr564Cys	rs775446679	missense variant	-	NC_000002.12:g.120984478A>G	ExAC,gnomAD
GLI2	P10070	p.Ile565Leu	rs1185122714	missense variant	-	NC_000002.12:g.120984480A>C	TOPMed
GLI2	P10070	p.Lys567Arg	rs182118157	missense variant	-	NC_000002.12:g.120984487A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ile568Asn	rs761866843	missense variant	-	NC_000002.12:g.120984490T>A	ExAC,gnomAD
GLI2	P10070	p.Gly570Ala	rs765365609	missense variant	-	NC_000002.12:g.120984496G>C	ExAC,gnomAD
GLI2	P10070	p.Thr572Ile	rs758642577	missense variant	-	NC_000002.12:g.120984502C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg582Trp	rs1158908764	missense variant	-	NC_000002.12:g.120984531C>T	gnomAD
GLI2	P10070	p.Thr587Met	rs202040905	missense variant	-	NC_000002.12:g.120984547C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly590Ser	rs765300859	missense variant	-	NC_000002.12:g.120984555G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly590Asp	rs372990380	missense variant	-	NC_000002.12:g.120984556G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp592Asn	rs533664830	missense variant	-	NC_000002.12:g.120984561G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.His594Tyr	rs775250023	missense variant	-	NC_000002.12:g.120984567C>T	ExAC,gnomAD
GLI2	P10070	p.Val595Ile	rs768557650	missense variant	-	NC_000002.12:g.120984570G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg600His	rs762992052	missense variant	-	NC_000002.12:g.120984586G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg600Cys	rs113407742	missense variant	-	NC_000002.12:g.120984585C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg600Leu	rs762992052	missense variant	-	NC_000002.12:g.120984586G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn601Asp	rs766641925	missense variant	-	NC_000002.12:g.120984588A>G	ExAC,gnomAD
GLI2	P10070	p.Asn601Ser	rs61732851	missense variant	-	NC_000002.12:g.120984589A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp602Gly	rs755399491	missense variant	-	NC_000002.12:g.120984592A>G	ExAC,gnomAD
GLI2	P10070	p.Val603Gly	rs1413894701	missense variant	-	NC_000002.12:g.120984595T>G	TOPMed
GLI2	P10070	p.Val603Met	rs752945007	missense variant	-	NC_000002.12:g.120984594G>A	ExAC,gnomAD
GLI2	P10070	p.His604Pro	rs756664261	missense variant	-	NC_000002.12:g.120984598A>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg606Pro	rs745409561	missense variant	-	NC_000002.12:g.120984604G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg606His	rs745409561	missense variant	-	NC_000002.12:g.120984604G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg606Cys	rs778101215	missense variant	-	NC_000002.12:g.120984603C>T	ExAC,gnomAD
GLI2	P10070	p.Thr607Pro	rs1242087899	missense variant	-	NC_000002.12:g.120984606A>C	TOPMed
GLI2	P10070	p.Pro608Ala	rs779910601	missense variant	-	NC_000002.12:g.120984609C>G	ExAC,gnomAD
GLI2	P10070	p.Pro608Thr	rs779910601	missense variant	-	NC_000002.12:g.120984609C>A	ExAC,gnomAD
GLI2	P10070	p.Pro608Gln	rs149800897	missense variant	-	NC_000002.12:g.120984610C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro608Leu	rs149800897	missense variant	-	NC_000002.12:g.120984610C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu610Phe	rs1232903310	missense variant	-	NC_000002.12:g.120984615C>T	TOPMed
GLI2	P10070	p.Lys611Arg	rs769812935	missense variant	-	NC_000002.12:g.120984619A>G	ExAC,gnomAD
GLI2	P10070	p.Glu612Asp	rs1276324238	missense variant	-	NC_000002.12:g.120984623G>C	gnomAD
GLI2	P10070	p.Asn613Ser	rs537396771	missense variant	-	NC_000002.12:g.120984625A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Gly614Arg	rs1203779849	missense variant	-	NC_000002.12:g.120984627G>A	TOPMed,gnomAD
GLI2	P10070	p.Asp615Asn	rs1314964125	missense variant	-	NC_000002.12:g.120984630G>A	TOPMed
GLI2	P10070	p.Ser616Ile	rs1250165393	missense variant	-	NC_000002.12:g.120984634G>T	TOPMed,gnomAD
GLI2	P10070	p.Ala618Val	rs763082072	missense variant	-	NC_000002.12:g.120984640C>T	ExAC,gnomAD
GLI2	P10070	p.Gly619Ser	rs377568773	missense variant	-	NC_000002.12:g.120984642G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly619Cys	rs377568773	missense variant	-	NC_000002.12:g.120984642G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly619Arg	rs377568773	missense variant	-	NC_000002.12:g.120984642G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly619Asp	rs1041659064	missense variant	-	NC_000002.12:g.120984643G>A	TOPMed,gnomAD
GLI2	P10070	p.Thr620Met	rs142775128	missense variant	-	NC_000002.12:g.120984646C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly624Ser	rs754383625	missense variant	-	NC_000002.12:g.120984657G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly624Arg	rs754383625	missense variant	-	NC_000002.12:g.120984657G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro625Arg	rs1459325913	missense variant	-	NC_000002.12:g.120984661C>G	gnomAD
GLI2	P10070	p.Thr628Pro	rs1419408866	missense variant	-	NC_000002.12:g.120984669A>C	TOPMed
GLI2	P10070	p.Glu629Asp	rs535733917	missense variant	-	NC_000002.12:g.120984674G>C	1000Genomes
GLI2	P10070	p.Glu629Lys	rs387907277	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120984672G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser631Asn	rs1365428947	missense variant	-	NC_000002.12:g.120984679G>A	gnomAD
GLI2	P10070	p.Ser632Arg	rs1292764721	missense variant	-	NC_000002.12:g.120984683C>G	TOPMed,gnomAD
GLI2	P10070	p.Thr633Ile	rs1251531492	missense variant	-	NC_000002.12:g.120984685C>T	TOPMed
GLI2	P10070	p.Ala636Pro	rs1213243722	missense variant	-	NC_000002.12:g.120984693G>C	TOPMed
GLI2	P10070	p.Val637Met	rs181235976	missense variant	-	NC_000002.12:g.120984696G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu638Lys	rs748026927	missense variant	-	NC_000002.12:g.120984699G>A	ExAC,gnomAD
GLI2	P10070	p.Val643Ile	rs773204708	missense variant	-	NC_000002.12:g.120984714G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu649Lys	rs375115603	missense variant	-	NC_000002.12:g.120984732G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly652Arg	rs199958307	missense variant	-	NC_000002.12:g.120984741G>A	1000Genomes,ESP,ExAC,gnomAD
GLI2	P10070	p.Leu653Pro	rs1373160690	missense variant	-	NC_000002.12:g.120986279T>C	gnomAD
GLI2	P10070	p.Cys654Tyr	rs1431089381	missense variant	-	NC_000002.12:g.120986282G>A	gnomAD
GLI2	P10070	p.Ser656Tyr	rs954972933	missense variant	-	NC_000002.12:g.120986288C>A	gnomAD
GLI2	P10070	p.Ser656Phe	rs954972933	missense variant	-	NC_000002.12:g.120986288C>T	gnomAD
GLI2	P10070	p.Gly659Val	rs1276922692	missense variant	-	NC_000002.12:g.120986297G>T	gnomAD
GLI2	P10070	p.Gly659Arg	rs777362312	missense variant	-	NC_000002.12:g.120986296G>A	ExAC,gnomAD
GLI2	P10070	p.Ala660Thr	rs757022100	missense variant	-	NC_000002.12:g.120986299G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala660Ser	rs757022100	missense variant	-	NC_000002.12:g.120986299G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala660Val	rs1301524384	missense variant	-	NC_000002.12:g.120986300C>T	gnomAD
GLI2	P10070	p.Ser662Leu	rs747870569	missense variant	-	NC_000002.12:g.120986306C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser665Gly	rs561810561	missense variant	-	NC_000002.12:g.120986314A>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser665Asn	rs1248168877	missense variant	-	NC_000002.12:g.120986315G>A	gnomAD
GLI2	P10070	p.Ser666Thr	rs747072723	missense variant	-	NC_000002.12:g.120986318G>C	ExAC,gnomAD
GLI2	P10070	p.Glu667Lys	rs776972968	missense variant	-	NC_000002.12:g.120986320G>A	ExAC,gnomAD
GLI2	P10070	p.Pro668Leu	rs183782085	missense variant	-	NC_000002.12:g.120986324C>T	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Gly672Ser	rs565657070	missense variant	-	NC_000002.12:g.120986335G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ala674Val	rs773562626	missense variant	-	NC_000002.12:g.120986342C>T	ExAC,gnomAD
GLI2	P10070	p.Ala674Thr	rs1474671936	missense variant	-	NC_000002.12:g.120986341G>A	gnomAD
GLI2	P10070	p.Ala674Asp	rs773562626	missense variant	-	NC_000002.12:g.120986342C>A	ExAC,gnomAD
GLI2	P10070	p.Asp678Val	rs1325951662	missense variant	-	NC_000002.12:g.120986354A>T	gnomAD
GLI2	P10070	p.Ser679Asn	rs1350901508	missense variant	-	NC_000002.12:g.120986357G>A	gnomAD
GLI2	P10070	p.Val681Leu	rs551617843	missense variant	-	NC_000002.12:g.120986362G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val681Met	rs551617843	missense variant	-	NC_000002.12:g.120986362G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met683Leu	rs1409163041	missense variant	-	NC_000002.12:g.120986368A>T	TOPMed
GLI2	P10070	p.Met683Val	rs1409163041	missense variant	-	NC_000002.12:g.120986368A>G	TOPMed
GLI2	P10070	p.Pro684Leu	rs373968370	missense variant	-	NC_000002.12:g.120986372C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro684Ser	rs760198344	missense variant	-	NC_000002.12:g.120986371C>T	ExAC
GLI2	P10070	p.Gly685Arg	rs757109745	missense variant	-	NC_000002.12:g.120986374G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly685Glu	rs772786172	missense variant	-	NC_000002.12:g.120986375G>A	ExAC,gnomAD
GLI2	P10070	p.Thr686Ser	rs750174908	missense variant	-	NC_000002.12:g.120986377A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr686Met	rs758298657	missense variant	-	NC_000002.12:g.120986378C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly687Arg	rs979174780	missense variant	-	NC_000002.12:g.120986380G>A	TOPMed
GLI2	P10070	p.Gly689Glu	rs368605892	missense variant	-	NC_000002.12:g.120986387G>A	ESP,TOPMed
GLI2	P10070	p.Gly689Arg	rs748390167	missense variant	-	NC_000002.12:g.120986386G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu691Pro	rs770087477	missense variant	-	NC_000002.12:g.120986393T>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly692Arg	rs1205827042	missense variant	-	NC_000002.12:g.120986395G>C	TOPMed
GLI2	P10070	p.Thr695Lys	rs150858529	missense variant	-	NC_000002.12:g.120986405C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr695Met	rs150858529	missense variant	-	NC_000002.12:g.120986405C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp698Val	rs776052132	missense variant	-	NC_000002.12:g.120986414A>T	ExAC,gnomAD
GLI2	P10070	p.Asp698Asn	rs763588841	missense variant	-	NC_000002.12:g.120986413G>A	ExAC,gnomAD
GLI2	P10070	p.Thr700Ser	rs1445451224	missense variant	-	NC_000002.12:g.120986419A>T	TOPMed
GLI2	P10070	p.Pro702Gln	rs764830136	missense variant	-	NC_000002.12:g.120986426C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro702Ala	rs370752192	missense variant	-	NC_000002.12:g.120986425C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly703Glu	rs750226645	missense variant	-	NC_000002.12:g.120986429G>A	ExAC,gnomAD
GLI2	P10070	p.Asp705Asn	rs751513015	missense variant	-	NC_000002.12:g.120986434G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr706Ile	rs754899023	missense variant	-	NC_000002.12:g.120986438C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu709Arg	rs781438228	missense variant	-	NC_000002.12:g.120986447T>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu709Pro	rs781438228	missense variant	-	NC_000002.12:g.120986447T>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala710Val	rs996301662	missense variant	-	NC_000002.12:g.120986450C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala710Gly	rs996301662	missense variant	-	NC_000002.12:g.120986450C>G	TOPMed,gnomAD
GLI2	P10070	p.Ala714Thr	rs553780090	missense variant	-	NC_000002.12:g.120986461G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly715Asp	rs749660142	missense variant	-	NC_000002.12:g.120986465G>A	ExAC,gnomAD
GLI2	P10070	p.Gly716Ser	rs771311031	missense variant	-	NC_000002.12:g.120986467G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly716Val	rs774785340	missense variant	-	NC_000002.12:g.120986468G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg720His	rs149091975	missense variant	-	NC_000002.12:g.120986480G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg720Ser	rs773976966	missense variant	-	NC_000002.12:g.120986479C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg720Cys	rs773976966	missense variant	-	NC_000002.12:g.120986479C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His722Arg	rs993816030	missense variant	-	NC_000002.12:g.120986486A>G	TOPMed,gnomAD
GLI2	P10070	p.Met723Ile	rs987095648	missense variant	-	NC_000002.12:g.120986490G>A	gnomAD
GLI2	P10070	p.Met723Arg	rs761281400	missense variant	-	NC_000002.12:g.120986489T>G	ExAC,gnomAD
GLI2	P10070	p.Met723Lys	rs761281400	missense variant	-	NC_000002.12:g.120986489T>A	ExAC,gnomAD
GLI2	P10070	p.Thr724Ala	rs772907056	missense variant	-	NC_000002.12:g.120986491A>G	ExAC,gnomAD
GLI2	P10070	p.Arg728Gln	rs368549881	missense variant	-	NC_000002.12:g.120986504G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg728Trp	rs1397888063	missense variant	-	NC_000002.12:g.120986503C>T	TOPMed,gnomAD
GLI2	P10070	p.Phe729Leu	rs151179617	missense variant	-	NC_000002.12:g.120986508C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Phe729Leu	rs151179617	missense variant	-	NC_000002.12:g.120986508C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu730Lys	rs752860949	missense variant	-	NC_000002.12:g.120986509G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys733Asn	rs962236027	missense variant	-	NC_000002.12:g.120986520G>T	gnomAD
GLI2	P10070	p.Glu735Lys	rs756237933	missense variant	-	NC_000002.12:g.120986524G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys736Arg	rs777912692	missense variant	-	NC_000002.12:g.120986528A>G	ExAC,gnomAD
GLI2	P10070	p.Lys736Asn	rs754084344	missense variant	-	NC_000002.12:g.120986529G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys738Arg	rs1278646106	missense variant	-	NC_000002.12:g.120986534A>G	TOPMed,gnomAD
GLI2	P10070	p.Lys738Asn	rs371352201	missense variant	-	NC_000002.12:g.120986535G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser739Thr	rs746181717	missense variant	-	NC_000002.12:g.120986536T>A	ExAC,gnomAD
GLI2	P10070	p.Asp742Asn	rs1473144103	missense variant	-	NC_000002.12:g.120986545G>A	gnomAD
GLI2	P10070	p.Ser743Phe	rs1181480957	missense variant	-	NC_000002.12:g.120986549C>T	TOPMed,gnomAD
GLI2	P10070	p.Ser745Leu	rs780517633	missense variant	-	NC_000002.12:g.120986555C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Trp746Arg	rs1467722206	missense variant	-	NC_000002.12:g.120986557T>A	gnomAD
GLI2	P10070	p.Ala747Val	rs1173236992	missense variant	-	NC_000002.12:g.120986561C>T	gnomAD
GLI2	P10070	p.Gly748Arg	rs146944207	missense variant	-	NC_000002.12:g.120986563G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro749Leu	rs772532094	missense variant	-	NC_000002.12:g.120986567C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro749Gln	rs772532094	missense variant	-	NC_000002.12:g.120986567C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His752Gln	rs767609239	missense variant	-	NC_000002.12:g.120986577C>A	ExAC,gnomAD
GLI2	P10070	p.His752Tyr	rs759370412	missense variant	-	NC_000002.12:g.120986575C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr753Met	rs1296344698	missense variant	-	NC_000002.12:g.120986579C>T	TOPMed
GLI2	P10070	p.Arg754Trp	rs138932004	missense variant	-	NC_000002.12:g.120986581C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg754Gln	rs144782119	missense variant	-	NC_000002.12:g.120986582G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg754Pro	rs144782119	missense variant	-	NC_000002.12:g.120986582G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn755Thr	rs375221639	missense variant	-	NC_000002.12:g.120986585A>C	ESP
GLI2	P10070	p.Asn755Lys	rs904385464	missense variant	-	NC_000002.12:g.120986586C>G	TOPMed
GLI2	P10070	p.Leu758Val	rs758750566	missense variant	-	NC_000002.12:g.120986593C>G	ExAC
GLI2	P10070	p.Pro759His	rs1195601372	missense variant	-	NC_000002.12:g.120986597C>A	gnomAD
GLI2	P10070	p.Leu761Phe	rs1435272545	missense variant	-	NC_000002.12:g.120986602C>T	TOPMed,gnomAD
GLI2	P10070	p.Leu761Val	rs1435272545	missense variant	-	NC_000002.12:g.120986602C>G	TOPMed,gnomAD
GLI2	P10070	p.Pro762Leu	rs369835105	missense variant	-	NC_000002.12:g.120986606C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly765Ala	rs756712721	missense variant	-	NC_000002.12:g.120988208G>C	ExAC,gnomAD
GLI2	P10070	p.Gly765Ser	rs374074240	missense variant	-	NC_000002.12:g.120986614G>A	ESP
GLI2	P10070	p.Ser766Tyr	rs778778635	missense variant	-	NC_000002.12:g.120988211C>A	ExAC,gnomAD
GLI2	P10070	p.Leu768Pro	rs973224338	missense variant	-	NC_000002.12:g.120988217T>C	TOPMed,gnomAD
GLI2	P10070	p.Phe771Cys	rs1181629972	missense variant	-	NC_000002.12:g.120988226T>G	TOPMed,gnomAD
GLI2	P10070	p.Phe771Val	rs1188395609	missense variant	-	NC_000002.12:g.120988225T>G	gnomAD
GLI2	P10070	p.Phe771Leu	rs1416979318	missense variant	-	NC_000002.12:g.120988227C>A	TOPMed,gnomAD
GLI2	P10070	p.Ser772Ile	rs746742181	missense variant	-	NC_000002.12:g.120988229G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser772Thr	rs746742181	missense variant	-	NC_000002.12:g.120988229G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly773Asp	rs886054812	missense variant	-	NC_000002.12:g.120988232G>A	TOPMed,gnomAD
GLI2	P10070	p.Ser774Arg	rs553560055	missense variant	-	NC_000002.12:g.120988236T>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly775Arg	rs369823940	missense variant	-	NC_000002.12:g.120988237G>A	ESP,TOPMed,gnomAD
GLI2	P10070	p.Gly775Trp	rs369823940	missense variant	-	NC_000002.12:g.120988237G>T	ESP,TOPMed,gnomAD
GLI2	P10070	p.Gly775Arg	rs369823940	missense variant	-	NC_000002.12:g.120988237G>C	ESP,TOPMed,gnomAD
GLI2	P10070	p.Gly776Ser	rs776418663	missense variant	-	NC_000002.12:g.120988240G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly776Ala	rs762017804	missense variant	-	NC_000002.12:g.120988241G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly776Asp	rs762017804	missense variant	-	NC_000002.12:g.120988241G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly777Ser	rs1293213627	missense variant	-	NC_000002.12:g.120988243G>A	gnomAD
GLI2	P10070	p.Gly777Ala	rs1201848239	missense variant	-	NC_000002.12:g.120988244G>C	TOPMed
GLI2	P10070	p.Pro779Ser	rs773216992	missense variant	-	NC_000002.12:g.120988249C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala780Val	rs374016746	missense variant	-	NC_000002.12:g.120988253C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly781Glu	rs766544216	missense variant	-	NC_000002.12:g.120988256G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro784Leu	rs376132749	missense variant	-	NC_000002.12:g.120988265C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro784Arg	rs376132749	missense variant	-	NC_000002.12:g.120988265C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn785Ser	rs768131638	missense variant	-	NC_000002.12:g.120988268A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn785Ile	rs768131638	missense variant	-	NC_000002.12:g.120988268A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn785His	rs1408296694	missense variant	-	NC_000002.12:g.120988267A>C	gnomAD
GLI2	P10070	p.Pro786Thr	rs1047100315	missense variant	-	NC_000002.12:g.120988270C>A	TOPMed
GLI2	P10070	p.Arg787Trp	rs745323708	missense variant	-	NC_000002.12:g.120988273C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu788Arg	rs1328044438	missense variant	-	NC_000002.12:g.120988277T>G	gnomAD
GLI2	P10070	p.Ser789Leu	rs1374131711	missense variant	-	NC_000002.12:g.120988280C>T	gnomAD
GLI2	P10070	p.Ser792Ala	rs1334283315	missense variant	-	NC_000002.12:g.120988288T>G	TOPMed
GLI2	P10070	p.Ala793Val	rs965947206	missense variant	-	NC_000002.12:g.120988292C>T	TOPMed
GLI2	P10070	p.Ala793Ser	rs1372874550	missense variant	-	NC_000002.12:g.120988291G>T	gnomAD
GLI2	P10070	p.Ser794Ile	rs746880019	missense variant	-	NC_000002.12:g.120988295G>T	ExAC,gnomAD
GLI2	P10070	p.Glu795Lys	rs1406444413	missense variant	-	NC_000002.12:g.120988297G>A	TOPMed
GLI2	P10070	p.Val796Leu	rs926862203	missense variant	-	NC_000002.12:g.120988300G>T	TOPMed
GLI2	P10070	p.Thr797Ser	rs1348748256	missense variant	-	NC_000002.12:g.120988303A>T	gnomAD
GLI2	P10070	p.Met798Ile	rs1210211719	missense variant	-	NC_000002.12:g.120988308G>A	gnomAD
GLI2	P10070	p.Leu802Val	rs780972974	missense variant	-	NC_000002.12:g.120988318C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln803Glu	rs1206377430	missense variant	-	NC_000002.12:g.120988321C>G	gnomAD
GLI2	P10070	p.Glu804Lys	rs1233177594	missense variant	-	NC_000002.12:g.120988324G>A	gnomAD
GLI2	P10070	p.Arg805Cys	rs748046557	missense variant	-	NC_000002.12:g.120988327C>T	ExAC,gnomAD
GLI2	P10070	p.Arg806His	rs1396488391	missense variant	-	NC_000002.12:g.120988331G>A	gnomAD
GLI2	P10070	p.Arg806Cys	rs769667439	missense variant	-	NC_000002.12:g.120988330C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg806Ser	rs769667439	missense variant	-	NC_000002.12:g.120988330C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr812Met	rs773308985	missense variant	-	NC_000002.12:g.120988349C>T	ExAC,gnomAD
GLI2	P10070	p.Val813Ala	rs1053956460	missense variant	-	NC_000002.12:g.120988352T>C	TOPMed
GLI2	P10070	p.Ser815Leu	rs1026630572	missense variant	-	NC_000002.12:g.120988358C>T	gnomAD
GLI2	P10070	p.Ala816Ser	rs767780220	missense variant	-	NC_000002.12:g.120988360G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr817Phe	rs1232291280	missense variant	-	NC_000002.12:g.120988364A>T	gnomAD
GLI2	P10070	p.Thr818Pro	rs538744794	missense variant	-	NC_000002.12:g.120988366A>C	1000Genomes
GLI2	P10070	p.Val819Met	rs985023327	missense variant	-	NC_000002.12:g.120988369G>A	gnomAD
GLI2	P10070	p.Arg821Cys	rs1346097498	missense variant	-	NC_000002.12:g.120988375C>T	gnomAD
GLI2	P10070	p.Arg821His	rs926369054	missense variant	-	NC_000002.12:g.120988376G>A	TOPMed,gnomAD
GLI2	P10070	p.Arg822Cys	rs1301269573	missense variant	-	NC_000002.12:g.120988378C>T	gnomAD
GLI2	P10070	p.Ser823Phe	rs764657013	missense variant	-	NC_000002.12:g.120988382C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser824Phe	rs749994693	missense variant	-	NC_000002.12:g.120988385C>T	ExAC,gnomAD
GLI2	P10070	p.Gly825Ser	rs1202144630	missense variant	-	NC_000002.12:g.120988387G>A	gnomAD
GLI2	P10070	p.Gly825Arg	rs1202144630	missense variant	-	NC_000002.12:g.120988387G>C	gnomAD
GLI2	P10070	p.Ser827Pro	rs779823281	missense variant	-	NC_000002.12:g.120988393T>C	ExAC,gnomAD
GLI2	P10070	p.Ser827Phe	rs1468595986	missense variant	-	NC_000002.12:g.120988394C>T	gnomAD
GLI2	P10070	p.Pro828Leu	rs1192465801	missense variant	-	NC_000002.12:g.120988397C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro828His	rs1192465801	missense variant	-	NC_000002.12:g.120988397C>A	TOPMed,gnomAD
GLI2	P10070	p.Phe830Leu	rs556743028	missense variant	-	NC_000002.12:g.120988402T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser831Pro	rs923124952	missense variant	-	NC_000002.12:g.120988405T>C	-
GLI2	P10070	p.Ser831Phe	rs747895979	missense variant	-	NC_000002.12:g.120988406C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser831Tyr	rs747895979	missense variant	-	NC_000002.12:g.120988406C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser832Cys	rs1395509691	missense variant	-	NC_000002.12:g.120988408A>T	gnomAD
GLI2	P10070	p.Arg834Cys	rs1440364367	missense variant	-	NC_000002.12:g.120988414C>T	gnomAD
GLI2	P10070	p.Ser835Cys	rs890137078	missense variant	-	NC_000002.12:g.120988418C>G	TOPMed
GLI2	P10070	p.Ser836Gly	rs769760611	missense variant	-	NC_000002.12:g.120988420A>G	ExAC,gnomAD
GLI2	P10070	p.Glu837Lys	rs193090538	missense variant	-	NC_000002.12:g.120988423G>A	1000Genomes,ESP,ExAC,gnomAD
GLI2	P10070	p.Ala838Ser	rs749423913	missense variant	-	NC_000002.12:g.120988426G>T	ExAC,gnomAD
GLI2	P10070	p.Ser839Leu	rs1338626267	missense variant	-	NC_000002.12:g.120988430C>T	gnomAD
GLI2	P10070	p.Pro840Ser	rs774425670	missense variant	-	NC_000002.12:g.120988432C>T	ExAC,gnomAD
GLI2	P10070	p.Leu841Met	rs759692739	missense variant	-	NC_000002.12:g.120988435C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly842Asp	rs772290292	missense variant	-	NC_000002.12:g.120988439G>A	ExAC,gnomAD
GLI2	P10070	p.Ala843Gly	rs1270859236	missense variant	-	NC_000002.12:g.120988442C>G	gnomAD
GLI2	P10070	p.Gly844Ser	rs1193224449	missense variant	-	NC_000002.12:g.120988444G>A	gnomAD
GLI2	P10070	p.Gly844Asp	rs1183604091	missense variant	-	NC_000002.12:g.120988445G>A	TOPMed
GLI2	P10070	p.Arg845Cys	rs1242068535	missense variant	-	NC_000002.12:g.120988447C>T	gnomAD
GLI2	P10070	p.Arg845Leu	rs1474680366	missense variant	-	NC_000002.12:g.120988448G>T	gnomAD
GLI2	P10070	p.Pro846Gln	rs761090665	missense variant	-	NC_000002.12:g.120988451C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro846Arg	rs761090665	missense variant	-	NC_000002.12:g.120988451C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro846Leu	rs761090665	missense variant	-	NC_000002.12:g.120988451C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His847Gln	rs1358202635	missense variant	-	NC_000002.12:g.120988455C>G	TOPMed
GLI2	P10070	p.Ala849Pro	rs1461238960	missense variant	-	NC_000002.12:g.120988459G>C	gnomAD
GLI2	P10070	p.Ser851Phe	rs762343399	missense variant	-	NC_000002.12:g.120988466C>T	ExAC,gnomAD
GLI2	P10070	p.Ala852Thr	rs751028726	missense variant	-	NC_000002.12:g.120988468G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp853Ala	rs1398142924	missense variant	-	NC_000002.12:g.120988472A>C	gnomAD
GLI2	P10070	p.Ser854Tyr	rs767164238	missense variant	-	NC_000002.12:g.120988475C>A	ExAC,gnomAD
GLI2	P10070	p.Pro857Arg	rs1301613918	missense variant	-	NC_000002.12:g.120988484C>G	TOPMed
GLI2	P10070	p.Thr860Met	rs1270918193	missense variant	-	NC_000002.12:g.120988493C>T	gnomAD
GLI2	P10070	p.Ala862Val	rs1444777353	missense variant	-	NC_000002.12:g.120988499C>T	gnomAD
GLI2	P10070	p.Ala862Thr	rs1042668856	missense variant	-	NC_000002.12:g.120988498G>A	gnomAD
GLI2	P10070	p.Gln871Arg	rs1167240389	missense variant	-	NC_000002.12:g.120988526A>G	TOPMed
GLI2	P10070	p.Ser873Asn	rs1475109864	missense variant	-	NC_000002.12:g.120988532G>A	gnomAD
GLI2	P10070	p.Gly874Ser	rs749232196	missense variant	-	NC_000002.12:g.120988534G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly874Cys	rs749232196	missense variant	-	NC_000002.12:g.120988534G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly874Asp	rs1470595019	missense variant	-	NC_000002.12:g.120988535G>A	gnomAD
GLI2	P10070	p.Gly875Ser	rs1382953991	missense variant	-	NC_000002.12:g.120988537G>A	gnomAD
GLI2	P10070	p.Gly877Arg	rs1375945140	missense variant	-	NC_000002.12:g.120988543G>A	gnomAD
GLI2	P10070	p.Leu879Pro	rs1239404153	missense variant	-	NC_000002.12:g.120988550T>C	gnomAD
GLI2	P10070	p.Leu879Phe	rs1337169378	missense variant	-	NC_000002.12:g.120988549C>T	gnomAD
GLI2	P10070	p.Asn880Lys	rs745923540	missense variant	-	NC_000002.12:g.120988554C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn880Ser	rs1278578252	missense variant	-	NC_000002.12:g.120988553A>G	gnomAD
GLI2	P10070	p.Thr882Ser	rs1332140763	missense variant	-	NC_000002.12:g.120988558A>T	gnomAD
GLI2	P10070	p.Pro883Ser	rs1235814751	missense variant	-	NC_000002.12:g.120988561C>T	gnomAD
GLI2	P10070	p.Pro883Leu	rs1488068671	missense variant	-	NC_000002.12:g.120988562C>T	TOPMed
GLI2	P10070	p.Ala884Glu	rs1485605591	missense variant	-	NC_000002.12:g.120988565C>A	TOPMed,gnomAD
GLI2	P10070	p.Ala884Val	rs1485605591	missense variant	-	NC_000002.12:g.120988565C>T	TOPMed,gnomAD
GLI2	P10070	p.Gln885His	rs1209198245	missense variant	-	NC_000002.12:g.120988569G>C	gnomAD
GLI2	P10070	p.Gln886Arg	rs1253185243	missense variant	-	NC_000002.12:g.120988571A>G	gnomAD
GLI2	P10070	p.Arg890Trp	rs775833166	missense variant	-	NC_000002.12:g.120988582C>T	ExAC,TOPMed
GLI2	P10070	p.Ala891Val	rs1362244568	missense variant	-	NC_000002.12:g.120988586C>T	gnomAD
GLI2	P10070	p.Tyr893Phe	rs908599831	missense variant	-	NC_000002.12:g.120988592A>T	TOPMed,gnomAD
GLI2	P10070	p.Ala895Pro	rs1174286833	missense variant	-	NC_000002.12:g.120988597G>C	gnomAD
GLI2	P10070	p.Ala896Val	rs1433952961	missense variant	-	NC_000002.12:g.120988601C>T	gnomAD
GLI2	P10070	p.Gly899Asp	rs777077274	missense variant	-	NC_000002.12:g.120988610G>A	ExAC
GLI2	P10070	p.Pro900Leu	rs762431434	missense variant	-	NC_000002.12:g.120988613C>T	ExAC,gnomAD
GLI2	P10070	p.Pro901Leu	rs765733921	missense variant	-	NC_000002.12:g.120988616C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro901Ser	rs1391739024	missense variant	-	NC_000002.12:g.120988615C>T	gnomAD
GLI2	P10070	p.Pro901Gln	rs765733921	missense variant	-	NC_000002.12:g.120988616C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr903Ser	rs572826436	missense variant	-	NC_000002.12:g.120988622C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro906Arg	rs759061834	missense variant	-	NC_000002.12:g.120988631C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro906Leu	rs759061834	missense variant	-	NC_000002.12:g.120988631C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro906Gln	rs759061834	missense variant	-	NC_000002.12:g.120988631C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly907Asp	rs1479419735	missense variant	-	NC_000002.12:g.120988634G>A	TOPMed
GLI2	P10070	p.Glu909Val	rs1237189963	missense variant	-	NC_000002.12:g.120988640A>T	TOPMed
GLI2	P10070	p.Glu909Lys	rs1236605155	missense variant	-	NC_000002.12:g.120988639G>A	gnomAD
GLI2	P10070	p.Arg910Gly	rs1342106193	missense variant	-	NC_000002.12:g.120988642C>G	TOPMed,gnomAD
GLI2	P10070	p.Arg910Cys	rs1342106193	missense variant	-	NC_000002.12:g.120988642C>T	TOPMed,gnomAD
GLI2	P10070	p.Arg910His	rs752338987	missense variant	-	NC_000002.12:g.120988643G>A	ExAC,gnomAD
GLI2	P10070	p.Met911Leu	rs1194343331	missense variant	-	NC_000002.12:g.120988645A>C	TOPMed,gnomAD
GLI2	P10070	p.Met911Val	rs1194343331	missense variant	-	NC_000002.12:g.120988645A>G	TOPMed,gnomAD
GLI2	P10070	p.Met911Ile	rs755701566	missense variant	-	NC_000002.12:g.120988647G>A	ExAC,gnomAD
GLI2	P10070	p.Ser912Ile	rs1452643743	missense variant	-	NC_000002.12:g.120988649G>T	gnomAD
GLI2	P10070	p.Arg914Gln	rs886054813	missense variant	-	NC_000002.12:g.120988655G>A	TOPMed,gnomAD
GLI2	P10070	p.Arg914Trp	rs763893593	missense variant	-	NC_000002.12:g.120988654C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr915Ser	rs753583106	missense variant	-	NC_000002.12:g.120988658C>G	ExAC,gnomAD
GLI2	P10070	p.Leu917Met	rs1397696400	missense variant	-	NC_000002.12:g.120988663C>A	gnomAD
GLI2	P10070	p.Ala918Glu	rs1442572039	missense variant	-	NC_000002.12:g.120988667C>A	gnomAD
GLI2	P10070	p.Leu919Pro	rs1369669579	missense variant	-	NC_000002.12:g.120988670T>C	gnomAD
GLI2	P10070	p.Leu920Pro	rs1372871540	missense variant	-	NC_000002.12:g.120988673T>C	TOPMed
GLI2	P10070	p.Ala922Thr	rs1384533626	missense variant	-	NC_000002.12:g.120988678G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala922Gly	rs890177001	missense variant	-	NC_000002.12:g.120988679C>G	TOPMed
GLI2	P10070	p.Ala922Val	rs890177001	missense variant	-	NC_000002.12:g.120988679C>T	TOPMed
GLI2	P10070	p.Pro923Leu	rs1359684308	missense variant	-	NC_000002.12:g.120988682C>T	TOPMed
GLI2	P10070	p.Glu924Gln	rs1177884230	missense variant	-	NC_000002.12:g.120988684G>C	TOPMed
GLI2	P10070	p.Arg925His	rs1227169920	missense variant	-	NC_000002.12:g.120988688G>A	TOPMed,gnomAD
GLI2	P10070	p.Arg925Leu	rs1227169920	missense variant	-	NC_000002.12:g.120988688G>T	TOPMed,gnomAD
GLI2	P10070	p.Pro928Leu	rs540126716	missense variant	-	NC_000002.12:g.120988697C>T	1000Genomes
GLI2	P10070	p.Pro928Thr	rs778880428	missense variant	-	NC_000002.12:g.120988696C>A	ExAC,gnomAD
GLI2	P10070	p.Ala929Thr	rs1214617362	missense variant	-	NC_000002.12:g.120988699G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly930Ser	rs1008980636	missense variant	-	NC_000002.12:g.120988702G>A	TOPMed
GLI2	P10070	p.Pro932Ser	rs1272759660	missense variant	-	NC_000002.12:g.120988708C>T	gnomAD
GLI2	P10070	p.Arg933His	rs1038692152	missense variant	-	NC_000002.12:g.120988712G>A	TOPMed,gnomAD
GLI2	P10070	p.Leu935Pro	rs1258360366	missense variant	-	NC_000002.12:g.120988718T>C	TOPMed
GLI2	P10070	p.Arg938Trp	rs900449843	missense variant	-	NC_000002.12:g.120988726C>T	TOPMed
GLI2	P10070	p.Arg939His	rs745984071	missense variant	-	NC_000002.12:g.120988730G>A	ExAC,gnomAD
GLI2	P10070	p.Ser941Arg	rs994748700	missense variant	-	NC_000002.12:g.120988737C>A	TOPMed,gnomAD
GLI2	P10070	p.Asp942Asn	rs1027551866	missense variant	-	NC_000002.12:g.120988738G>A	TOPMed
GLI2	P10070	p.Gly943Arg	rs1312020540	missense variant	-	NC_000002.12:g.120988741G>A	TOPMed
GLI2	P10070	p.Pro944Ser	rs950546253	missense variant	-	NC_000002.12:g.120988744C>T	TOPMed
GLI2	P10070	p.Thr945Ser	rs1004685361	missense variant	-	NC_000002.12:g.120988748C>G	TOPMed,gnomAD
GLI2	P10070	p.Thr945Ile	rs1004685361	missense variant	-	NC_000002.12:g.120988748C>T	TOPMed,gnomAD
GLI2	P10070	p.Tyr946Cys	rs1359706804	missense variant	-	NC_000002.12:g.120988751A>G	TOPMed
GLI2	P10070	p.Gly947Asp	rs1015690843	missense variant	-	NC_000002.12:g.120988754G>A	TOPMed,gnomAD
GLI2	P10070	p.His950Tyr	rs1421082927	missense variant	-	NC_000002.12:g.120988762C>T	TOPMed
GLI2	P10070	p.Ala951Thr	rs1383010786	missense variant	-	NC_000002.12:g.120988765G>A	TOPMed
GLI2	P10070	p.Gly952Ala	rs970835131	missense variant	-	NC_000002.12:g.120988769G>C	TOPMed,gnomAD
GLI2	P10070	p.Ala953Ser	rs1290055364	missense variant	-	NC_000002.12:g.120988771G>T	TOPMed,gnomAD
GLI2	P10070	p.Ala954Val	rs1258846094	missense variant	-	NC_000002.12:g.120988775C>T	TOPMed
GLI2	P10070	p.Ala956Thr	rs982555104	missense variant	-	NC_000002.12:g.120988780G>A	TOPMed,gnomAD
GLI2	P10070	p.His959Tyr	rs1382223174	missense variant	-	NC_000002.12:g.120988789C>T	TOPMed,gnomAD
GLI2	P10070	p.Glu960Lys	rs1276841941	missense variant	-	NC_000002.12:g.120988792G>A	gnomAD
GLI2	P10070	p.Ala961Val	rs1357813577	missense variant	-	NC_000002.12:g.120988796C>T	gnomAD
GLI2	P10070	p.Ala961Ser	rs1391715622	missense variant	-	NC_000002.12:g.120988795G>T	TOPMed,gnomAD
GLI2	P10070	p.Ala961Asp	rs1357813577	missense variant	-	NC_000002.12:g.120988796C>A	gnomAD
GLI2	P10070	p.Pro962Leu	rs1183656856	missense variant	-	NC_000002.12:g.120988799C>T	TOPMed
GLI2	P10070	p.Gly964Ser	rs532167984	missense variant	-	NC_000002.12:g.120988804G>A	1000Genomes,TOPMed,gnomAD
GLI2	P10070	p.Gly965Arg	rs1401689804	missense variant	-	NC_000002.12:g.120988807G>A	TOPMed
GLI2	P10070	p.Ala966Pro	rs758491909	missense variant	-	NC_000002.12:g.120988810G>C	ExAC,gnomAD
GLI2	P10070	p.Arg968Trp	rs780215367	missense variant	-	NC_000002.12:g.120988816C>T	ExAC,gnomAD
GLI2	P10070	p.Ala969Gly	rs1260890491	missense variant	-	NC_000002.12:g.120988820C>G	TOPMed,gnomAD
GLI2	P10070	p.Arg974Trp	rs1412636446	missense variant	-	NC_000002.12:g.120988834C>T	gnomAD
GLI2	P10070	p.Arg974Pro	rs376969137	missense variant	-	NC_000002.12:g.120988835G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg974Leu	rs376969137	missense variant	-	NC_000002.12:g.120988835G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg975Leu	rs1477746607	missense variant	-	NC_000002.12:g.120988838G>T	TOPMed
GLI2	P10070	p.Asp977Gly	rs1160835394	missense variant	-	NC_000002.12:g.120988844A>G	gnomAD
GLI2	P10070	p.Asp977Glu	rs1196293141	missense variant	-	NC_000002.12:g.120988845T>A	TOPMed
GLI2	P10070	p.Ala978Ser	rs1489978345	missense variant	-	NC_000002.12:g.120988846G>T	TOPMed
GLI2	P10070	p.Leu979Gln	rs959912590	missense variant	-	NC_000002.12:g.120988850T>A	TOPMed
GLI2	P10070	p.Ser980Tyr	rs1377757442	missense variant	-	NC_000002.12:g.120988853C>A	gnomAD
GLI2	P10070	p.Leu981Pro	rs1312594885	missense variant	-	NC_000002.12:g.120988856T>C	TOPMed,gnomAD
GLI2	P10070	p.Pro982Ser	rs945554487	missense variant	-	NC_000002.12:g.120988858C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro982Leu	rs770249989	missense variant	-	NC_000002.12:g.120988859C>T	ExAC,gnomAD
GLI2	P10070	p.Pro982Gln	rs770249989	missense variant	-	NC_000002.12:g.120988859C>A	ExAC,gnomAD
GLI2	P10070	p.Arg983Leu	rs978189731	missense variant	-	NC_000002.12:g.120988862G>T	TOPMed,gnomAD
GLI2	P10070	p.Arg983Pro	rs978189731	missense variant	-	NC_000002.12:g.120988862G>C	TOPMed,gnomAD
GLI2	P10070	p.Val984Met	rs1283824297	missense variant	-	NC_000002.12:g.120988864G>A	gnomAD
GLI2	P10070	p.Gln985Ter	rs1486577626	stop gained	-	NC_000002.12:g.120988867C>T	gnomAD
GLI2	P10070	p.Arg986His	rs773752490	missense variant	-	NC_000002.12:g.120988871G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg986Cys	rs911667474	missense variant	-	NC_000002.12:g.120988870C>T	TOPMed
GLI2	P10070	p.Arg986Pro	rs773752490	missense variant	-	NC_000002.12:g.120988871G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His991Tyr	rs1482145486	missense variant	-	NC_000002.12:g.120988885C>T	gnomAD
GLI2	P10070	p.Val993Met	rs767022377	missense variant	-	NC_000002.12:g.120988891G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn994Lys	rs1438576682	missense variant	-	NC_000002.12:g.120988896C>A	TOPMed,gnomAD
GLI2	P10070	p.Pro995Ser	rs1039136345	missense variant	-	NC_000002.12:g.120988897C>T	TOPMed
GLI2	P10070	p.Gly996Arg	rs1259431717	missense variant	-	NC_000002.12:g.120988900G>C	gnomAD
GLI2	P10070	p.Gly996Asp	rs1397447428	missense variant	-	NC_000002.12:g.120988901G>A	gnomAD
GLI2	P10070	p.Pro997Ala	rs1173561321	missense variant	-	NC_000002.12:g.120988903C>G	gnomAD
GLI2	P10070	p.Pro997Arg	rs563818052	missense variant	-	NC_000002.12:g.120988904C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro997Leu	rs563818052	missense variant	-	NC_000002.12:g.120988904C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu998Val	rs1194362558	missense variant	-	NC_000002.12:g.120988906C>G	gnomAD
GLI2	P10070	p.Leu998Pro	rs1298989652	missense variant	-	NC_000002.12:g.120988907T>C	gnomAD
GLI2	P10070	p.Pro999Leu	rs1444670785	missense variant	-	NC_000002.12:g.120988910C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro1000Ser	rs1258599727	missense variant	-	NC_000002.12:g.120988912C>T	TOPMed
GLI2	P10070	p.Pro1000Leu	rs1348680961	missense variant	-	NC_000002.12:g.120988913C>T	gnomAD
GLI2	P10070	p.Cys1001Ser	rs1310260977	missense variant	-	NC_000002.12:g.120988916G>C	gnomAD
GLI2	P10070	p.Cys1001Arg	rs1277802826	missense variant	-	NC_000002.12:g.120988915T>C	gnomAD
GLI2	P10070	p.Ala1002Thr	rs1206309646	missense variant	-	NC_000002.12:g.120988918G>A	gnomAD
GLI2	P10070	p.Asp1003Ala	rs930268229	missense variant	-	NC_000002.12:g.120988922A>C	TOPMed,gnomAD
GLI2	P10070	p.Asp1003Glu	rs760345085	missense variant	-	NC_000002.12:g.120988923C>G	ExAC,gnomAD
GLI2	P10070	p.Asp1003Tyr	rs1233125074	missense variant	-	NC_000002.12:g.120988921G>T	gnomAD
GLI2	P10070	p.Asp1003Asn	rs1233125074	missense variant	-	NC_000002.12:g.120988921G>A	gnomAD
GLI2	P10070	p.Arg1004Ser	rs1049016244	missense variant	-	NC_000002.12:g.120988926G>C	TOPMed
GLI2	P10070	p.Gly1006Arg	rs763699269	missense variant	-	NC_000002.12:g.120988930G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1008Ser	rs761649381	missense variant	-	NC_000002.12:g.120988936C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1008Leu	rs1445373669	missense variant	-	NC_000002.12:g.120988937G>T	TOPMed
GLI2	P10070	p.Arg1008Cys	rs761649381	missense variant	-	NC_000002.12:g.120988936C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1010Ter	rs1412017270	stop gained	-	NC_000002.12:g.120988942C>T	gnomAD
GLI2	P10070	p.Ser1011Asn	rs1400437764	missense variant	-	NC_000002.12:g.120988946G>A	TOPMed
GLI2	P10070	p.Pro1013Arg	rs780303555	missense variant	-	NC_000002.12:g.120988952C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1013Leu	rs780303555	missense variant	-	NC_000002.12:g.120988952C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1014Asn	rs1440223587	missense variant	-	NC_000002.12:g.120988955G>A	gnomAD
GLI2	P10070	p.Asp1016Asn	rs1365347989	missense variant	-	NC_000002.12:g.120988960G>A	gnomAD
GLI2	P10070	p.Gly1017Asp	rs781540070	missense variant	-	NC_000002.12:g.120988964G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1018Ser	rs1317069719	missense variant	-	NC_000002.12:g.120988966G>A	gnomAD
GLI2	P10070	p.Ala1020Val	rs1274644562	missense variant	-	NC_000002.12:g.120988973C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala1020Pro	rs567643693	missense variant	-	NC_000002.12:g.120988972G>C	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Arg1021Cys	rs777929230	missense variant	-	NC_000002.12:g.120988975C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1021His	rs749819734	missense variant	-	NC_000002.12:g.120988976G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1022Ser	rs1476635342	missense variant	-	NC_000002.12:g.120988978G>A	gnomAD
GLI2	P10070	p.Ala1023Thr	rs771381877	missense variant	-	NC_000002.12:g.120988981G>A	ExAC,gnomAD
GLI2	P10070	p.Tyr1024Cys	rs1477028869	missense variant	-	NC_000002.12:g.120988985A>G	gnomAD
GLI2	P10070	p.Ser1025Ala	rs1200806790	missense variant	-	NC_000002.12:g.120988987T>G	TOPMed
GLI2	P10070	p.Ser1025Leu	rs936860529	missense variant	-	NC_000002.12:g.120988988C>T	gnomAD
GLI2	P10070	p.Arg1027Gln	rs531385991	missense variant	-	NC_000002.12:g.120988994G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1027Trp	rs1404870952	missense variant	-	NC_000002.12:g.120988993C>T	gnomAD
GLI2	P10070	p.Pro1028Thr	rs776334630	missense variant	-	NC_000002.12:g.120988996C>A	ExAC,gnomAD
GLI2	P10070	p.Pro1028Ala	rs776334630	missense variant	-	NC_000002.12:g.120988996C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1029Leu	rs765093621	missense variant	-	NC_000002.12:g.120989000C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1029Ser	rs761580748	missense variant	-	NC_000002.12:g.120988999C>T	ExAC,gnomAD
GLI2	P10070	p.Ile1031Val	rs750136710	missense variant	-	NC_000002.12:g.120989005A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1032Arg	rs1208741501	missense variant	-	NC_000002.12:g.120989010C>A	gnomAD
GLI2	P10070	p.Glu1033Asp	rs766387015	missense variant	-	NC_000002.12:g.120989013G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1033Lys	rs1287203228	missense variant	-	NC_000002.12:g.120989011G>A	gnomAD
GLI2	P10070	p.Asn1034Lys	rs751735227	missense variant	-	NC_000002.12:g.120989016C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1036Val	rs755093850	missense variant	-	NC_000002.12:g.120989021C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1037Thr	rs1190464996	missense variant	-	NC_000002.12:g.120989024T>C	TOPMed,gnomAD
GLI2	P10070	p.Ala1039Thr	rs1158444767	missense variant	-	NC_000002.12:g.120989029G>A	TOPMed
GLI2	P10070	p.Ala1039Val	rs1418852002	missense variant	-	NC_000002.12:g.120989030C>T	gnomAD
GLI2	P10070	p.Val1040Met	rs546947063	missense variant	-	NC_000002.12:g.120989032G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1040Leu	rs546947063	missense variant	-	NC_000002.12:g.120989032G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1041Gly	rs1019643953	missense variant	-	NC_000002.12:g.120989036C>G	gnomAD
GLI2	P10070	p.Ala1041Ser	rs1410337412	missense variant	-	NC_000002.12:g.120989035G>T	gnomAD
GLI2	P10070	p.Ala1042Thr	rs1359783541	missense variant	-	NC_000002.12:g.120989038G>A	TOPMed,gnomAD
GLI2	P10070	p.Ala1042Ser	rs1359783541	missense variant	-	NC_000002.12:g.120989038G>T	TOPMed,gnomAD
GLI2	P10070	p.Val1044Glu	rs1314428926	missense variant	-	NC_000002.12:g.120989045T>A	gnomAD
GLI2	P10070	p.Val1044Leu	rs752964383	missense variant	-	NC_000002.12:g.120989044G>T	ExAC,gnomAD
GLI2	P10070	p.Asp1045Val	rs1340833371	missense variant	-	NC_000002.12:g.120989048A>T	gnomAD
GLI2	P10070	p.Gly1046Cys	rs778226507	missense variant	-	NC_000002.12:g.120989050G>T	ExAC,gnomAD
GLI2	P10070	p.Gly1048Arg	rs897185156	missense variant	-	NC_000002.12:g.120989056G>A	gnomAD
GLI2	P10070	p.Pro1049Ser	rs994573592	missense variant	-	NC_000002.12:g.120989059C>T	TOPMed,gnomAD
GLI2	P10070	p.Glu1050Lys	rs1026265013	missense variant	-	NC_000002.12:g.120989062G>A	gnomAD
GLI2	P10070	p.Ala1051Gly	rs1442199502	missense variant	-	NC_000002.12:g.120989066C>G	gnomAD
GLI2	P10070	p.Asp1052Tyr	rs746582228	missense variant	-	NC_000002.12:g.120989068G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1052Glu	rs775938622	missense variant	-	NC_000002.12:g.120989070C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1052Val	rs768151048	missense variant	-	NC_000002.12:g.120989069A>T	ExAC,gnomAD
GLI2	P10070	p.Gly1054Glu	rs1158057792	missense variant	-	NC_000002.12:g.120989075G>A	TOPMed,gnomAD
GLI2	P10070	p.Pro1056Ala	rs374225016	missense variant	-	NC_000002.12:g.120989080C>G	ESP,gnomAD
GLI2	P10070	p.Pro1056Ser	rs374225016	missense variant	-	NC_000002.12:g.120989080C>T	ESP,gnomAD
GLI2	P10070	p.Pro1056Arg	rs761549286	missense variant	-	NC_000002.12:g.120989081C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1056Leu	rs761549286	missense variant	-	NC_000002.12:g.120989081C>T	ExAC,gnomAD
GLI2	P10070	p.Glu1057Asp	rs1450753084	missense variant	-	NC_000002.12:g.120989085G>C	TOPMed
GLI2	P10070	p.Glu1057Lys	rs1258559138	missense variant	-	NC_000002.12:g.120989083G>A	gnomAD
GLI2	P10070	p.Asp1059Val	rs759476656	missense variant	-	NC_000002.12:g.120989090A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1059His	rs762818312	missense variant	-	NC_000002.12:g.120989089G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1059Glu	rs767644818	missense variant	-	NC_000002.12:g.120989091C>A	ExAC,gnomAD
GLI2	P10070	p.Asp1059Tyr	rs762818312	missense variant	-	NC_000002.12:g.120989089G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1059Glu	rs767644818	missense variant	-	NC_000002.12:g.120989091C>G	ExAC,gnomAD
GLI2	P10070	p.Asp1059Asn	rs762818312	missense variant	-	NC_000002.12:g.120989089G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu1060Pro	rs1307819952	missense variant	-	NC_000002.12:g.120989093T>C	gnomAD
GLI2	P10070	p.Asp1064Gly	rs1256789533	missense variant	-	NC_000002.12:g.120989105A>G	gnomAD
GLI2	P10070	p.Val1066Leu	rs764193976	missense variant	-	NC_000002.12:g.120989110G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1066Met	rs764193976	missense variant	-	NC_000002.12:g.120989110G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1067Met	rs1252938560	missense variant	-	NC_000002.12:g.120989113G>A	TOPMed,gnomAD
GLI2	P10070	p.Gln1068Arg	rs1178246285	missense variant	-	NC_000002.12:g.120989117A>G	gnomAD
GLI2	P10070	p.Tyr1069Asn	rs1236506351	missense variant	-	NC_000002.12:g.120989119T>A	gnomAD
GLI2	P10070	p.Ile1070Val	rs1455620973	missense variant	-	NC_000002.12:g.120989122A>G	gnomAD
GLI2	P10070	p.Lys1071Glu	rs757606652	missense variant	-	NC_000002.12:g.120989125A>G	ExAC,gnomAD
GLI2	P10070	p.Lys1071Gln	rs757606652	missense variant	-	NC_000002.12:g.120989125A>C	ExAC,gnomAD
GLI2	P10070	p.Ala1072Val	rs1378085616	missense variant	-	NC_000002.12:g.120989129C>T	gnomAD
GLI2	P10070	p.His1073Gln	rs780785079	missense variant	-	NC_000002.12:g.120989133C>A	ExAC,gnomAD
GLI2	P10070	p.Ala1077Val	rs538722626	missense variant	-	NC_000002.12:g.120989144C>T	TOPMed
GLI2	P10070	p.Ala1077Thr	rs747578237	missense variant	-	NC_000002.12:g.120989143G>A	ExAC,gnomAD
GLI2	P10070	p.Asp1079Gly	rs1165092642	missense variant	-	NC_000002.12:g.120989150A>G	TOPMed
GLI2	P10070	p.Asp1079Asn	rs1330259381	missense variant	-	NC_000002.12:g.120989149G>A	gnomAD
GLI2	P10070	p.Glu1080Lys	rs1442433669	missense variant	-	NC_000002.12:g.120989152G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly1081Val	rs772723859	missense variant	-	NC_000002.12:g.120989156G>T	ExAC,gnomAD
GLI2	P10070	p.Thr1082Ala	rs1045997211	missense variant	-	NC_000002.12:g.120989158A>G	TOPMed,gnomAD
GLI2	P10070	p.Thr1082Ile	rs1157253132	missense variant	-	NC_000002.12:g.120989159C>T	gnomAD
GLI2	P10070	p.Gly1083Glu	rs762719258	missense variant	-	NC_000002.12:g.120989162G>A	ExAC,gnomAD
GLI2	P10070	p.Gln1084Glu	rs907053242	missense variant	-	NC_000002.12:g.120989164C>G	TOPMed,gnomAD
GLI2	P10070	p.Gln1084His	rs774226078	missense variant	-	NC_000002.12:g.120989166G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1087Thr	rs1033775424	missense variant	-	NC_000002.12:g.120989173C>A	TOPMed
GLI2	P10070	p.Thr1088Met	rs767322106	missense variant	-	NC_000002.12:g.120989177C>T	ExAC,gnomAD
GLI2	P10070	p.Thr1091Ile	rs764436534	missense variant	-	NC_000002.12:g.120989186C>T	ExAC,gnomAD
GLI2	P10070	p.Gly1092Asp	rs754057218	missense variant	-	NC_000002.12:g.120989189G>A	ExAC,gnomAD
GLI2	P10070	p.Phe1093Leu	rs1478006958	missense variant	-	NC_000002.12:g.120989191T>C	gnomAD
GLI2	P10070	p.Asp1095Glu	rs139620354	missense variant	-	NC_000002.12:g.120989199C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1095His	rs959125673	missense variant	-	NC_000002.12:g.120989197G>C	TOPMed
GLI2	P10070	p.Asp1095Asn	rs959125673	missense variant	-	NC_000002.12:g.120989197G>A	TOPMed
GLI2	P10070	p.Asn1096Ser	rs1462586787	missense variant	-	NC_000002.12:g.120989201A>G	gnomAD
GLI2	P10070	p.Pro1097Leu	rs765600180	missense variant	-	NC_000002.12:g.120989204C>T	ExAC,gnomAD
GLI2	P10070	p.Arg1098Ile	rs750745447	missense variant	-	NC_000002.12:g.120989207G>T	ExAC,gnomAD
GLI2	P10070	p.Arg1098Lys	rs750745447	missense variant	-	NC_000002.12:g.120989207G>A	ExAC,gnomAD
GLI2	P10070	p.Leu1099Gln	rs1385662301	missense variant	-	NC_000002.12:g.120989210T>A	gnomAD
GLI2	P10070	p.Pro1100His	rs1298335402	missense variant	-	NC_000002.12:g.120989213C>A	gnomAD
GLI2	P10070	p.Pro1102Arg	rs758984235	missense variant	-	NC_000002.12:g.120989219C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1103Arg	rs867862228	missense variant	-	NC_000002.12:g.120989221G>A	TOPMed
GLI2	P10070	p.Gly1103Val	rs747750495	missense variant	-	NC_000002.12:g.120989222G>T	ExAC,gnomAD
GLI2	P10070	p.Gly1106Arg	rs1264996237	missense variant	-	NC_000002.12:g.120989230G>C	TOPMed,gnomAD
GLI2	P10070	p.Gly1106Ser	rs1264996237	missense variant	-	NC_000002.12:g.120989230G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly1106Val	rs777267988	missense variant	-	NC_000002.12:g.120989231G>T	ExAC,gnomAD
GLI2	P10070	p.Gly1106Asp	rs777267988	missense variant	-	NC_000002.12:g.120989231G>A	ExAC,gnomAD
GLI2	P10070	p.Gln1107His	rs1303882655	missense variant	-	NC_000002.12:g.120989235G>C	gnomAD
GLI2	P10070	p.Arg1108Leu	rs745631814	missense variant	-	NC_000002.12:g.120989237G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1108Cys	rs774322148	missense variant	-	NC_000002.12:g.120989236C>T	ExAC,gnomAD
GLI2	P10070	p.Met1110Leu	rs1192613952	missense variant	-	NC_000002.12:g.120989242A>T	gnomAD
GLI2	P10070	p.Val1111Ala	rs772098216	missense variant	-	NC_000002.12:g.120989246T>C	ExAC,gnomAD
GLI2	P10070	p.Ala1112Thr	rs1476019294	missense variant	-	NC_000002.12:g.120989248G>A	TOPMed,gnomAD
GLI2	P10070	p.Asp1114Tyr	rs775280334	missense variant	-	NC_000002.12:g.120989254G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1114Glu	rs760876044	missense variant	-	NC_000002.12:g.120989256C>G	ExAC,gnomAD
GLI2	P10070	p.Ser1115Phe	rs768624852	missense variant	-	NC_000002.12:g.120989258C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1116Lys	rs368638181	missense variant	-	NC_000002.12:g.120989262C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1116Ser	rs202220727	missense variant	-	NC_000002.12:g.120989261A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Val1117Leu	rs147580961	missense variant	-	NC_000002.12:g.120989263G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1118Arg	rs1296674536	missense variant	-	NC_000002.12:g.120989266G>C	gnomAD
GLI2	P10070	p.Ser1120Phe	rs975278086	missense variant	-	NC_000002.12:g.120989273C>T	TOPMed,gnomAD
GLI2	P10070	p.Ser1120Pro	rs1246994636	missense variant	-	NC_000002.12:g.120989272T>C	TOPMed
GLI2	P10070	p.Ala1121Val	rs752010477	missense variant	-	NC_000002.12:g.120989276C>T	ExAC,gnomAD
GLI2	P10070	p.Ala1121Gly	rs752010477	missense variant	-	NC_000002.12:g.120989276C>G	ExAC,gnomAD
GLI2	P10070	p.Ala1121Pro	rs368122191	missense variant	-	NC_000002.12:g.120989275G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1121Thr	rs368122191	missense variant	-	NC_000002.12:g.120989275G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1122Ser	rs755452359	missense variant	-	NC_000002.12:g.120989278C>T	ExAC
GLI2	P10070	p.Met1123Leu	rs1199775213	missense variant	-	NC_000002.12:g.120989281A>C	TOPMed
GLI2	P10070	p.Met1123Arg	rs777445046	missense variant	-	NC_000002.12:g.120989282T>G	ExAC,gnomAD
GLI2	P10070	p.Gly1125Arg	rs753361318	missense variant	-	NC_000002.12:g.120989287G>A	ExAC,gnomAD
GLI2	P10070	p.Leu1129Ser	rs562657085	missense variant	-	NC_000002.12:g.120989300T>C	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Phe1131Ser	rs1215796726	missense variant	-	NC_000002.12:g.120989306T>C	gnomAD
GLI2	P10070	p.Ala1133Thr	rs745719628	missense variant	-	NC_000002.12:g.120989311G>A	ExAC,gnomAD
GLI2	P10070	p.Ala1133Val	rs771760319	missense variant	-	NC_000002.12:g.120989312C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1134Leu	rs1320649360	missense variant	-	NC_000002.12:g.120989315C>T	TOPMed
GLI2	P10070	p.Ser1135Tyr	rs140601980	missense variant	-	NC_000002.12:g.120989318C>A	ESP,ExAC,gnomAD
GLI2	P10070	p.Ser1135Pro	rs1182138685	missense variant	-	NC_000002.12:g.120989317T>C	gnomAD
GLI2	P10070	p.Ser1135Cys	rs140601980	missense variant	-	NC_000002.12:g.120989318C>G	ESP,ExAC,gnomAD
GLI2	P10070	p.Asn1138Asp	rs1421578070	missense variant	-	NC_000002.12:g.120989326A>G	gnomAD
GLI2	P10070	p.Lys1139Glu	rs768591353	missense variant	-	NC_000002.12:g.120989329A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1140Lys	rs776730340	missense variant	-	NC_000002.12:g.120989334T>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1141Ile	rs761857488	missense variant	-	NC_000002.12:g.120989336A>T	ExAC,gnomAD
GLI2	P10070	p.Met1142Thr	rs1276884623	missense variant	-	NC_000002.12:g.120989339T>C	TOPMed
GLI2	P10070	p.Pro1143Ser	rs770059172	missense variant	-	NC_000002.12:g.120989341C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1143Ala	rs770059172	missense variant	-	NC_000002.12:g.120989341C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Trp1146Leu	rs773417936	missense variant	-	NC_000002.12:g.120989351G>T	ExAC,gnomAD
GLI2	P10070	p.Trp1146Cys	rs763165545	missense variant	-	NC_000002.12:g.120989352G>C	ExAC,gnomAD
GLI2	P10070	p.Ser1151Thr	rs887719452	missense variant	-	NC_000002.12:g.120989365T>A	TOPMed
GLI2	P10070	p.Ser1151Cys	rs367560592	missense variant	-	NC_000002.12:g.120989366C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1152Asp	rs768110500	missense variant	-	NC_000002.12:g.120989369G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1152Ala	rs768110500	missense variant	-	NC_000002.12:g.120989369G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1153Ile	rs756818605	missense variant	-	NC_000002.12:g.120989372C>T	ExAC,gnomAD
GLI2	P10070	p.Val1154Ile	rs200999705	missense variant	-	NC_000002.12:g.120989374G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1154Gly	rs755789095	missense variant	-	NC_000002.12:g.120989375T>G	TOPMed,gnomAD
GLI2	P10070	p.Asp1155Ala	rs1437468060	missense variant	-	NC_000002.12:g.120989378A>C	TOPMed
GLI2	P10070	p.Ala1156Ser	rs3738880	missense variant	-	NC_000002.12:g.120989380G>T	UniProt,dbSNP
GLI2	P10070	p.Ala1156Ser	VAR_047306	missense variant	-	NC_000002.12:g.120989380G>T	UniProt
GLI2	P10070	p.Ala1156Ser	rs3738880	missense variant	-	NC_000002.12:g.120989380G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1156Val	rs886054816	missense variant	-	NC_000002.12:g.120989381C>T	TOPMed
GLI2	P10070	p.Leu1157Val	rs141988240	missense variant	-	NC_000002.12:g.120989383C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1158Val	rs999901522	missense variant	-	NC_000002.12:g.120989387C>T	TOPMed,gnomAD
GLI2	P10070	p.Ser1159Asn	rs768627802	missense variant	-	NC_000002.12:g.120989390G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1161Glu	rs1238186456	missense variant	-	NC_000002.12:g.120989396T>A	TOPMed
GLI2	P10070	p.Val1161Met	rs781094176	missense variant	-	NC_000002.12:g.120989395G>A	ExAC,gnomAD
GLI2	P10070	p.Lys1162Arg	rs190017682	missense variant	-	NC_000002.12:g.120989399A>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1164Leu	rs1357654147	missense variant	-	NC_000002.12:g.120989405C>T	gnomAD
GLI2	P10070	p.Pro1164Ala	rs769864629	missense variant	-	NC_000002.12:g.120989404C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1164Gln	rs1357654147	missense variant	-	NC_000002.12:g.120989405C>A	gnomAD
GLI2	P10070	p.Pro1165His	rs749492360	missense variant	-	NC_000002.12:g.120989408C>A	ExAC,gnomAD
GLI2	P10070	p.Pro1165Ala	rs1332265944	missense variant	-	NC_000002.12:g.120989407C>G	gnomAD
GLI2	P10070	p.Pro1165Arg	rs749492360	missense variant	-	NC_000002.12:g.120989408C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1167Ala	rs1444598825	missense variant	-	NC_000002.12:g.120989413C>G	gnomAD
GLI2	P10070	p.Gln1168Lys	rs1307034642	missense variant	-	NC_000002.12:g.120989416C>A	gnomAD
GLI2	P10070	p.Gln1168His	rs771141522	missense variant	-	NC_000002.12:g.120989418G>T	ExAC,gnomAD
GLI2	P10070	p.Asn1170Lys	rs774621936	missense variant	-	NC_000002.12:g.120989424C>G	ExAC,gnomAD
GLI2	P10070	p.Ala1172Val	rs759924730	missense variant	-	NC_000002.12:g.120989429C>T	ExAC,gnomAD
GLI2	P10070	p.Val1173Leu	rs761198680	missense variant	-	NC_000002.12:g.120989431G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1176His	rs139686081	missense variant	-	NC_000002.12:g.120989442G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Lys1177Glu	rs977801911	missense variant	-	NC_000002.12:g.120989443A>G	TOPMed,gnomAD
GLI2	P10070	p.Ala1179Thr	rs758020307	missense variant	-	NC_000002.12:g.120989449G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1182Lys	rs751366504	missense variant	-	NC_000002.12:g.120989458C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr1183Asp	rs1423564697	missense variant	-	NC_000002.12:g.120989461T>G	TOPMed,gnomAD
GLI2	P10070	p.Pro1184Gln	rs754763067	missense variant	-	NC_000002.12:g.120989465C>A	ExAC,gnomAD
GLI2	P10070	p.Pro1184Leu	rs754763067	missense variant	-	NC_000002.12:g.120989465C>T	ExAC,gnomAD
GLI2	P10070	p.Gly1185Asp	rs1171685895	missense variant	-	NC_000002.12:g.120989468G>A	gnomAD
GLI2	P10070	p.Tyr1186Cys	rs748088531	missense variant	-	NC_000002.12:g.120989471A>G	ExAC,gnomAD
GLI2	P10070	p.Ser1187Gly	rs1350528681	missense variant	-	NC_000002.12:g.120989473A>G	gnomAD
GLI2	P10070	p.Ser1187Arg	rs1220739775	missense variant	-	NC_000002.12:g.120989475T>A	gnomAD
GLI2	P10070	p.Pro1188Arg	rs145212051	missense variant	-	NC_000002.12:g.120989477C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1188Leu	rs145212051	missense variant	-	NC_000002.12:g.120989477C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1190Ser	rs1196603541	missense variant	-	NC_000002.12:g.120989482G>A	gnomAD
GLI2	P10070	p.Gly1190Val	rs774621554	missense variant	-	NC_000002.12:g.120989483G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1192Pro	rs1278476876	missense variant	-	NC_000002.12:g.120989489A>C	gnomAD
GLI2	P10070	p.Ser1194Arg	rs761286894	missense variant	-	NC_000002.12:g.120989496C>A	ExAC,gnomAD
GLI2	P10070	p.Ser1194Asn	rs200034506	missense variant	-	NC_000002.12:g.120989495G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1194Ile	rs200034506	missense variant	-	NC_000002.12:g.120989495G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1194Arg	rs1259978045	missense variant	-	NC_000002.12:g.120989494A>C	TOPMed
GLI2	P10070	p.Pro1195Thr	rs1291472973	missense variant	-	NC_000002.12:g.120989497C>A	gnomAD
GLI2	P10070	p.Gly1197Ser	rs1221545910	missense variant	-	NC_000002.12:g.120989503G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly1197Asp	rs114823319	missense variant	-	NC_000002.12:g.120989504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1197Cys	rs1221545910	missense variant	-	NC_000002.12:g.120989503G>T	TOPMed,gnomAD
GLI2	P10070	p.Asp1199Val	rs751228632	missense variant	-	NC_000002.12:g.120989510A>T	ExAC,gnomAD
GLI2	P10070	p.Ser1200Asn	rs1194754805	missense variant	-	NC_000002.12:g.120989513G>A	gnomAD
GLI2	P10070	p.Thr1201Met	rs376756023	missense variant	-	NC_000002.12:g.120989516C>T	ESP,TOPMed,gnomAD
GLI2	P10070	p.Thr1201Ser	rs1423198282	missense variant	-	NC_000002.12:g.120989515A>T	gnomAD
GLI2	P10070	p.His1204Gln	rs1322837852	missense variant	-	NC_000002.12:g.120989526C>A	gnomAD
GLI2	P10070	p.His1204Tyr	rs1404815951	missense variant	-	NC_000002.12:g.120989524C>T	gnomAD
GLI2	P10070	p.Pro1207Ser	rs1400303256	missense variant	-	NC_000002.12:g.120989533C>T	gnomAD
GLI2	P10070	p.Pro1207His	rs756081434	missense variant	-	NC_000002.12:g.120989534C>A	ExAC,gnomAD
GLI2	P10070	p.Arg1208Cys	rs201103063	missense variant	-	NC_000002.12:g.120989536C>T	TOPMed
GLI2	P10070	p.Arg1208His	rs200537256	missense variant	-	NC_000002.12:g.120989537G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1208Gly	rs201103063	missense variant	-	NC_000002.12:g.120989536C>G	TOPMed
GLI2	P10070	p.Ser1209Ile	rs138909736	missense variant	-	NC_000002.12:g.120989540G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1209Arg	rs757358215	missense variant	-	NC_000002.12:g.120989541C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1210Arg	rs150417879	missense variant	-	NC_000002.12:g.120989542G>A	1000Genomes,ESP,ExAC,gnomAD
GLI2	P10070	p.Gly1210Glu	rs1163477393	missense variant	-	NC_000002.12:g.120989543G>A	TOPMed
GLI2	P10070	p.Ala1211Asp	rs1356398498	missense variant	-	NC_000002.12:g.120989546C>A	gnomAD
GLI2	P10070	p.Pro1212Thr	rs780598193	missense variant	-	NC_000002.12:g.120989548C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1214His	rs777189943	missense variant	-	NC_000002.12:g.120989556G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1215Ser	rs149554935	missense variant	-	NC_000002.12:g.120989557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1215Ala	rs375495972	missense variant	-	NC_000002.12:g.120989558G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1215Val	rs375495972	missense variant	-	NC_000002.12:g.120989558G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1215Asp	rs375495972	missense variant	-	NC_000002.12:g.120989558G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile1216Met	rs767122616	missense variant	-	NC_000002.12:g.120989562C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1217His	rs752535265	missense variant	-	NC_000002.12:g.120989564C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1220Lys	rs574652470	missense variant	-	NC_000002.12:g.120989574C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asn1220Ser	rs760453341	missense variant	-	NC_000002.12:g.120989573A>G	ExAC,gnomAD
GLI2	P10070	p.Tyr1221Asp	rs369899304	missense variant	-	NC_000002.12:g.120989575T>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1222Leu	rs757088907	missense variant	-	NC_000002.12:g.120989578A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu1225Pro	rs779072625	missense variant	-	NC_000002.12:g.120989588T>C	ExAC
GLI2	P10070	p.Arg1226Gln	rs543155526	missense variant	-	NC_000002.12:g.120989591G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1231Ala	rs780403648	missense variant	-	NC_000002.12:g.120989606G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1231Asp	rs780403648	missense variant	-	NC_000002.12:g.120989606G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1232Asn	rs781353780	missense variant	-	NC_000002.12:g.120989609G>A	ExAC,gnomAD
GLI2	P10070	p.Gln1233Arg	rs377503122	missense variant	-	NC_000002.12:g.120989612A>G	ESP,TOPMed,gnomAD
GLI2	P10070	p.Gln1233His	rs368879160	missense variant	-	NC_000002.12:g.120989613G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1239Ser	rs372563328	missense variant	-	NC_000002.12:g.120989630C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1239Ile	rs372563328	missense variant	-	NC_000002.12:g.120989630C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1240Ser	rs1441997643	missense variant	-	NC_000002.12:g.120989632A>T	gnomAD
GLI2	P10070	p.Met1241Leu	rs374416094	missense variant	-	NC_000002.12:g.120989635A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1241Val	rs374416094	missense variant	-	NC_000002.12:g.120989635A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1241Ile	rs138191075	missense variant	-	NC_000002.12:g.120989637G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1242Arg	rs775121883	missense variant	-	NC_000002.12:g.120989640C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1243Ser	rs763967506	missense variant	-	NC_000002.12:g.120989641C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1245Asp	rs201543141	missense variant	-	NC_000002.12:g.120989648C>A	1000Genomes,gnomAD
GLI2	P10070	p.Ala1245Thr	rs140457296	missense variant	-	NC_000002.12:g.120989647G>A	ESP,ExAC,gnomAD
GLI2	P10070	p.Tyr1247Cys	rs377085645	missense variant	-	NC_000002.12:g.120989654A>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1251Pro	rs750581555	missense variant	-	NC_000002.12:g.120989666A>C	ExAC,gnomAD
GLI2	P10070	p.Pro1252Thr	rs1334252087	missense variant	-	NC_000002.12:g.120989668C>A	gnomAD
GLI2	P10070	p.Gln1253Glu	rs758545876	missense variant	-	NC_000002.12:g.120989671C>G	ExAC,gnomAD
GLI2	P10070	p.Ser1255Arg	rs1216743068	missense variant	-	NC_000002.12:g.120989679C>A	gnomAD
GLI2	P10070	p.Ser1260Asn	rs780215160	missense variant	-	NC_000002.12:g.120989693G>A	ExAC,gnomAD
GLI2	P10070	p.Asn1264Lys	rs201958776	missense variant	-	NC_000002.12:g.120989706C>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Asn1264Lys	rs201958776	missense variant	-	NC_000002.12:g.120989706C>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Gln1268Glu	rs1469916040	missense variant	-	NC_000002.12:g.120989716C>G	TOPMed
GLI2	P10070	p.Ser1269Phe	rs771577944	missense variant	-	NC_000002.12:g.120989720C>T	ExAC
GLI2	P10070	p.Asn1272Asp	rs1237511260	missense variant	-	NC_000002.12:g.120989728A>G	gnomAD
GLI2	P10070	p.Pro1274Ser	rs768154558	missense variant	-	NC_000002.12:g.120989734C>T	ExAC,gnomAD
GLI2	P10070	p.Ala1275Gly	rs776530841	missense variant	-	NC_000002.12:g.120989738C>G	ExAC,gnomAD
GLI2	P10070	p.Ala1275Thr	rs1200911614	missense variant	-	NC_000002.12:g.120989737G>A	gnomAD
GLI2	P10070	p.Gly1278Glu	rs761492633	missense variant	-	NC_000002.12:g.120989747G>A	ExAC,gnomAD
GLI2	P10070	p.His1279Pro	rs1173839344	missense variant	-	NC_000002.12:g.120989750A>C	gnomAD
GLI2	P10070	p.Gly1281Val	rs1425274542	missense variant	-	NC_000002.12:g.120989756G>T	gnomAD
GLI2	P10070	p.Pro1283Thr	rs1270489477	missense variant	-	NC_000002.12:g.120989761C>A	TOPMed
GLI2	P10070	p.Gln1284Arg	rs765325264	missense variant	-	NC_000002.12:g.120989765A>G	ExAC,gnomAD
GLI2	P10070	p.Gln1285Arg	rs773285493	missense variant	-	NC_000002.12:g.120989768A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1286Lys	rs1389095782	missense variant	-	NC_000002.12:g.120989771C>A	gnomAD
GLI2	P10070	p.Ala1289Ser	rs1324744987	missense variant	-	NC_000002.12:g.120989779G>T	gnomAD
GLI2	P10070	p.Ala1289Val	rs762925931	missense variant	-	NC_000002.12:g.120989780C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1290Leu	rs1395985905	missense variant	-	NC_000002.12:g.120989783C>T	TOPMed
GLI2	P10070	p.Pro1290Ser	rs149872935	missense variant	-	NC_000002.12:g.120989782C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1293Ala	rs755264335	missense variant	-	NC_000002.12:g.120989791A>G	ExAC,gnomAD
GLI2	P10070	p.Thr1294Met	rs767608623	missense variant	-	NC_000002.12:g.120989795C>T	ExAC,gnomAD
GLI2	P10070	p.Asn1297Ser	rs749812469	missense variant	-	NC_000002.12:g.120989804A>G	ExAC,gnomAD
GLI2	P10070	p.Asn1297Asp	rs778047825	missense variant	-	NC_000002.12:g.120989803A>G	ExAC,gnomAD
GLI2	P10070	p.Arg1298Cys	rs757716894	missense variant	-	NC_000002.12:g.120989806C>T	ExAC,gnomAD
GLI2	P10070	p.Arg1298His	rs370407550	missense variant	-	NC_000002.12:g.120989807G>A	ESP,ExAC,gnomAD
GLI2	P10070	p.Arg1300Gly	rs746470573	missense variant	-	NC_000002.12:g.120989812A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1301Val	rs768405449	missense variant	-	NC_000002.12:g.120989816A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1301Gly	rs768405449	missense variant	-	NC_000002.12:g.120989816A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Leu1302Pro	rs562751864	missense variant	-	NC_000002.12:g.120989819T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1303Val	rs769722637	missense variant	-	NC_000002.12:g.120989822G>T	ExAC
GLI2	P10070	p.Val1304Ile	rs918722071	missense variant	-	NC_000002.12:g.120989824G>A	gnomAD
GLI2	P10070	p.Asp1306Asn	rs12711538	missense variant	-	NC_000002.12:g.120989830G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1307Pro	rs1390565661	missense variant	-	NC_000002.12:g.120989833T>C	gnomAD
GLI2	P10070	p.Ala1308Val	rs1403509982	missense variant	-	NC_000002.12:g.120989837C>T	gnomAD
GLI2	P10070	p.Ala1310Val	rs1300501583	missense variant	-	NC_000002.12:g.120989843C>T	gnomAD
GLI2	P10070	p.Gly1311Ala	rs140954953	missense variant	-	NC_000002.12:g.120989846G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1311Arg	rs766383275	missense variant	-	NC_000002.12:g.120989845G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1311Glu	rs140954953	missense variant	-	NC_000002.12:g.120989846G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1313Thr	rs767845340	missense variant	-	NC_000002.12:g.120989851C>A	ExAC,gnomAD
GLI2	P10070	p.Pro1313Leu	rs756274499	missense variant	-	NC_000002.12:g.120989852C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1313Ser	rs767845340	missense variant	-	NC_000002.12:g.120989851C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1314Ser	rs754165669	missense variant	-	NC_000002.12:g.120989854C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1315Leu	rs779370829	missense variant	-	NC_000002.12:g.120989858C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1315Ser	rs114376238	missense variant	-	NC_000002.12:g.120989857C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1317Ser	rs1488474574	missense variant	-	NC_000002.12:g.120989863C>T	gnomAD
GLI2	P10070	p.Val1318Ile	rs150434714	missense variant	-	NC_000002.12:g.120989866G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1319Arg	rs1259184973	missense variant	-	NC_000002.12:g.120989870A>G	gnomAD
GLI2	P10070	p.His1326Arg	rs145147250	missense variant	-	NC_000002.12:g.120989891A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.His1326Gln	rs1234504471	missense variant	-	NC_000002.12:g.120989892T>A	TOPMed
GLI2	P10070	p.His1326Tyr	rs1367371040	missense variant	-	NC_000002.12:g.120989890C>T	gnomAD
GLI2	P10070	p.Leu1328Arg	rs769530846	missense variant	-	NC_000002.12:g.120989897T>G	ExAC,gnomAD
GLI2	P10070	p.Ala1329Ser	rs1419431970	missense variant	-	NC_000002.12:g.120989899G>T	gnomAD
GLI2	P10070	p.Ser1331Phe	rs777745873	missense variant	-	NC_000002.12:g.120989906C>T	ExAC,gnomAD
GLI2	P10070	p.Met1332Val	rs749064978	missense variant	-	NC_000002.12:g.120989908A>G	ExAC,gnomAD
GLI2	P10070	p.Gly1336Asp	rs771047694	missense variant	-	NC_000002.12:g.120989921G>A	ExAC,gnomAD
GLI2	P10070	p.His1338Arg	rs774148686	missense variant	-	NC_000002.12:g.120989927A>G	ExAC,gnomAD
GLI2	P10070	p.Gln1339His	rs1372738733	missense variant	-	NC_000002.12:g.120989931G>C	TOPMed
GLI2	P10070	p.Val1340Leu	rs759453086	missense variant	-	NC_000002.12:g.120989932G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1341Leu	rs999363736	missense variant	-	NC_000002.12:g.120989936C>T	TOPMed
GLI2	P10070	p.Ser1342Asn	rs1336856462	missense variant	-	NC_000002.12:g.120989939G>A	TOPMed
GLI2	P10070	p.Ala1346Ser	rs775594660	missense variant	-	NC_000002.12:g.120989950G>T	ExAC,gnomAD
GLI2	P10070	p.Arg1347His	rs764270076	missense variant	-	NC_000002.12:g.120989954G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1347Cys	rs556459012	missense variant	-	NC_000002.12:g.120989953C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1347Pro	rs764270076	missense variant	-	NC_000002.12:g.120989954G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1348His	rs754251258	missense variant	-	NC_000002.12:g.120989958G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1352Val	rs149140724	missense variant	-	NC_000002.12:g.120989968A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1353Lys	rs775213696	missense variant	-	NC_000002.12:g.120989971G>A	ExAC,gnomAD
GLI2	P10070	p.Pro1354Leu	rs1440454658	missense variant	-	NC_000002.12:g.120989975C>T	TOPMed
GLI2	P10070	p.Thr1356Pro	rs1344435528	missense variant	-	NC_000002.12:g.120989980A>C	gnomAD
GLI2	P10070	p.Gly1357Asp	rs760434927	missense variant	-	NC_000002.12:g.120989984G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1358Leu	rs780598328	missense variant	-	NC_000002.12:g.120989987C>T	ExAC,gnomAD
GLI2	P10070	p.Met1359Thr	rs755875503	missense variant	-	NC_000002.12:g.120989990T>C	ExAC,gnomAD
GLI2	P10070	p.Met1359Ile	rs1466803098	missense variant	-	NC_000002.12:g.120989991G>A	TOPMed,gnomAD
GLI2	P10070	p.Gly1360Glu	rs777551364	missense variant	-	NC_000002.12:g.120989993G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1360Val	rs777551364	missense variant	-	NC_000002.12:g.120989993G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1360Ala	rs777551364	missense variant	-	NC_000002.12:g.120989993G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1361Leu	rs145939921	missense variant	-	NC_000002.12:g.120989995G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1363Ile	rs1449022922	missense variant	-	NC_000002.12:g.120990002C>T	TOPMed,gnomAD
GLI2	P10070	p.Ala1364Ser	rs878895919	missense variant	-	NC_000002.12:g.120990004G>T	-
GLI2	P10070	p.Phe1366Cys	rs1223136757	missense variant	-	NC_000002.12:g.120990011T>G	gnomAD
GLI2	P10070	p.Val1369Met	rs1304690842	missense variant	-	NC_000002.12:g.120990019G>A	gnomAD
GLI2	P10070	p.Pro1371Leu	rs768387647	missense variant	-	NC_000002.12:g.120990026C>T	ExAC,gnomAD
GLI2	P10070	p.Arg1372Gly	rs745816777	missense variant	-	NC_000002.12:g.120990028C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1372Gln	rs201915462	missense variant	-	NC_000002.12:g.120990029G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1372Leu	rs201915462	missense variant	-	NC_000002.12:g.120990029G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1372Trp	rs745816777	missense variant	-	NC_000002.12:g.120990028C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1373Leu	rs1313867219	missense variant	-	NC_000002.12:g.120990032C>T	TOPMed
GLI2	P10070	p.Leu1375Phe	rs1480624580	missense variant	-	NC_000002.12:g.120990037C>T	gnomAD
GLI2	P10070	p.Leu1375Pro	rs371219507	missense variant	-	NC_000002.12:g.120990038T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1376Lys	rs768928173	missense variant	-	NC_000002.12:g.120990040G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1378Arg	rs1427407202	missense variant	-	NC_000002.12:g.120990048C>A	TOPMed,gnomAD
GLI2	P10070	p.Ser1378Asn	rs776832448	missense variant	-	NC_000002.12:g.120990047G>A	ExAC,gnomAD
GLI2	P10070	p.Pro1379Ala	rs1410194190	missense variant	-	NC_000002.12:g.120990049C>G	TOPMed
GLI2	P10070	p.Arg1382His	rs200080112	missense variant	-	NC_000002.12:g.120990059G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1382Cys	rs761959609	missense variant	-	NC_000002.12:g.120990058C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1383Gln	rs750756306	missense variant	-	NC_000002.12:g.120990063C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1383Tyr	rs1417157202	missense variant	-	NC_000002.12:g.120990061C>T	TOPMed
GLI2	P10070	p.Arg1384Leu	rs763852684	missense variant	-	NC_000002.12:g.120990065G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1384Cys	rs763406790	missense variant	-	NC_000002.12:g.120990064C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1384His	rs763852684	missense variant	-	NC_000002.12:g.120990065G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1384Ser	rs763406790	missense variant	-	NC_000002.12:g.120990064C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Val1386Leu	rs755680499	missense variant	-	NC_000002.12:g.120990070G>T	ExAC,gnomAD
GLI2	P10070	p.Arg1387Cys	rs763628436	missense variant	-	NC_000002.12:g.120990073C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1387His	rs753561308	missense variant	-	NC_000002.12:g.120990074G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1388Thr	rs1306381397	missense variant	-	NC_000002.12:g.120990076G>A	gnomAD
GLI2	P10070	p.Gln1390Ter	rs1203090066	stop gained	-	NC_000002.12:g.120990082C>T	gnomAD
GLI2	P10070	p.Gln1390Pro	rs917282260	missense variant	-	NC_000002.12:g.120990083A>C	gnomAD
GLI2	P10070	p.Gln1391His	rs1489027653	missense variant	-	NC_000002.12:g.120990087G>C	TOPMed,gnomAD
GLI2	P10070	p.Leu1393Arg	rs778605920	missense variant	-	NC_000002.12:g.120990092T>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr1395Phe	rs745645553	missense variant	-	NC_000002.12:g.120990098A>T	ExAC
GLI2	P10070	p.Ala1396Ser	rs751479828	missense variant	-	NC_000002.12:g.120990100G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1396Thr	rs751479828	missense variant	-	NC_000002.12:g.120990100G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1396Pro	rs751479828	missense variant	-	NC_000002.12:g.120990100G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1398Thr	rs768730033	missense variant	-	NC_000002.12:g.120990106G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1400Cys	rs143914758	missense variant	-	NC_000002.12:g.120990112G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1403Val	rs577126364	missense variant	-	NC_000002.12:g.120990121A>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1404Val	rs773494590	missense variant	-	NC_000002.12:g.120990125C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1404Asp	rs773494590	missense variant	-	NC_000002.12:g.120990125C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1405Val	rs1302372905	missense variant	-	NC_000002.12:g.120990128C>T	gnomAD
GLI2	P10070	p.Met1406Val	rs763363340	missense variant	-	NC_000002.12:g.120990130A>G	ExAC,gnomAD
GLI2	P10070	p.Met1406Ile	rs1401505369	missense variant	-	NC_000002.12:g.120990132G>T	gnomAD
GLI2	P10070	p.Pro1407Leu	rs753578976	missense variant	-	NC_000002.12:g.120990134C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro1407Ser	rs1278408896	missense variant	-	NC_000002.12:g.120990133C>T	gnomAD
GLI2	P10070	p.Ser1408Cys	rs775002368	missense variant	-	NC_000002.12:g.120990137C>G	ExAC,gnomAD
GLI2	P10070	p.Ser1409Ile	rs1222396896	missense variant	-	NC_000002.12:g.120990140G>T	gnomAD
GLI2	P10070	p.Ser1409Cys	rs1322915480	missense variant	-	NC_000002.12:g.120990139A>T	gnomAD
GLI2	P10070	p.Glu1411Lys	rs1489463100	missense variant	-	NC_000002.12:g.120990145G>A	gnomAD
GLI2	P10070	p.Thr1412Arg	rs763722028	missense variant	-	NC_000002.12:g.120990149C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1412Ile	rs763722028	missense variant	-	NC_000002.12:g.120990149C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1412Ala	rs760060026	missense variant	-	NC_000002.12:g.120990148A>G	ExAC,TOPMed
GLI2	P10070	p.Ala1413Ser	rs1241706432	missense variant	-	NC_000002.12:g.120990151G>T	gnomAD
GLI2	P10070	p.Glu1414Gln	rs753359287	missense variant	-	NC_000002.12:g.120990154G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1419Arg	rs764921374	missense variant	-	NC_000002.12:g.120990169G>C	ExAC,gnomAD
GLI2	P10070	p.Ala1420Thr	rs1273308746	missense variant	-	NC_000002.12:g.120990172G>A	TOPMed
GLI2	P10070	p.Ala1420Glu	rs370136073	missense variant	-	NC_000002.12:g.120990173C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1420Val	rs370136073	missense variant	-	NC_000002.12:g.120990173C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1420Gly	rs370136073	missense variant	-	NC_000002.12:g.120990173C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1421Ile	rs779760941	missense variant	-	NC_000002.12:g.120990177G>T	ExAC,gnomAD
GLI2	P10070	p.Gly1422Ala	rs746964199	missense variant	-	NC_000002.12:g.120990179G>C	ExAC,gnomAD
GLI2	P10070	p.Asn1423Ser	rs781286934	missense variant	-	NC_000002.12:g.120990182A>G	ExAC,gnomAD
GLI2	P10070	p.Gly1425Ala	rs748233304	missense variant	-	NC_000002.12:g.120990188G>C	ExAC,gnomAD
GLI2	P10070	p.Gly1425Glu	rs748233304	missense variant	-	NC_000002.12:g.120990188G>A	ExAC,gnomAD
GLI2	P10070	p.Ser1426Thr	rs1285515448	missense variant	-	NC_000002.12:g.120990190T>A	gnomAD
GLI2	P10070	p.Ser1426Leu	rs1215590067	missense variant	-	NC_000002.12:g.120990191C>T	TOPMed
GLI2	P10070	p.Pro1428Leu	rs773478679	missense variant	-	NC_000002.12:g.120990197C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1428Arg	rs773478679	missense variant	-	NC_000002.12:g.120990197C>G	ExAC,gnomAD
GLI2	P10070	p.Pro1429Leu	rs1435807664	missense variant	-	NC_000002.12:g.120990200C>T	TOPMed
GLI2	P10070	p.Pro1429Ser	rs1273342744	missense variant	-	NC_000002.12:g.120990199C>T	TOPMed
GLI2	P10070	p.Pro1431Leu	rs749402521	missense variant	-	NC_000002.12:g.120990206C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1432Ser	rs1217724427	missense variant	-	NC_000002.12:g.120990208C>T	gnomAD
GLI2	P10070	p.Gln1434Lys	rs1021233659	missense variant	-	NC_000002.12:g.120990214C>A	TOPMed
GLI2	P10070	p.Asp1435Glu	rs140565050	missense variant	-	NC_000002.12:g.120990219C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1436Thr	rs376388820	missense variant	-	NC_000002.12:g.120990220G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1437Asp	rs750097545	missense variant	-	NC_000002.12:g.120990224G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1437Ser	rs149163880	missense variant	-	NC_000002.12:g.120990223G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1437Cys	rs149163880	missense variant	-	NC_000002.12:g.120990223G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1438Arg	rs1194965005	missense variant	-	NC_000002.12:g.120990226G>A	TOPMed
GLI2	P10070	p.Gly1438Glu	rs1383258480	missense variant	-	NC_000002.12:g.120990227G>A	gnomAD
GLI2	P10070	p.Ala1439Thr	rs560714886	missense variant	-	NC_000002.12:g.120990229G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Pro1440Arg	rs267598856	missense variant	-	NC_000002.12:g.120990233C>G	1000Genomes,ExAC
GLI2	P10070	p.Pro1440Leu	rs267598856	missense variant	-	NC_000002.12:g.120990233C>T	1000Genomes,ExAC
GLI2	P10070	p.His1442Arg	rs1383968961	missense variant	-	NC_000002.12:g.120990239A>G	gnomAD
GLI2	P10070	p.Ser1443Asn	rs754953902	missense variant	-	NC_000002.12:g.120990242G>A	ExAC,gnomAD
GLI2	P10070	p.Met1444Ile	rs146467786	missense variant	-	NC_000002.12:g.120990246G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1444Ile	rs146467786	missense variant	-	NC_000002.12:g.120990246G>A	UniProt,dbSNP
GLI2	P10070	p.Met1444Ile	VAR_032977	missense variant	-	NC_000002.12:g.120990246G>A	UniProt
GLI2	P10070	p.Met1444_Leu1445delinsIlePhe	VAR_075216	deletion_insertion	Culler-Jones syndrome (CJS) [MIM:615849]	-	UniProt
GLI2	P10070	p.Leu1445Phe	rs146207623	missense variant	-	NC_000002.12:g.120990247C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr1446Cys	rs199512645	missense variant	-	NC_000002.12:g.120990251A>G	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Tyr1447His	rs749545197	missense variant	-	NC_000002.12:g.120990253T>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Tyr1448Cys	rs1279405733	missense variant	-	NC_000002.12:g.120990257A>G	gnomAD
GLI2	P10070	p.Gly1449Ser	rs746213496	missense variant	-	NC_000002.12:g.120990259G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1449Cys	rs746213496	missense variant	-	NC_000002.12:g.120990259G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1449Ala	rs1444731306	missense variant	-	NC_000002.12:g.120990260G>C	TOPMed
GLI2	P10070	p.Gln1450His	rs201523549	missense variant	-	NC_000002.12:g.120990264G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile1451Phe	rs761024643	missense variant	-	NC_000002.12:g.120990265A>T	ExAC,gnomAD
GLI2	P10070	p.Glu1455Lys	rs772550425	missense variant	-	NC_000002.12:g.120990277G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1459Ser	rs760074094	missense variant	-	NC_000002.12:g.120990289G>A	ExAC,gnomAD
GLI2	P10070	p.Leu1463Ile	rs1036625298	missense variant	-	NC_000002.12:g.120990301C>A	TOPMed,gnomAD
GLI2	P10070	p.Gly1464Ala	rs767232856	missense variant	-	NC_000002.12:g.120990305G>C	ExAC,gnomAD
GLI2	P10070	p.Gly1464Arg	rs200274772	missense variant	-	NC_000002.12:g.120990304G>A	ESP,TOPMed,gnomAD
GLI2	P10070	p.Ser1465Asn	rs150348343	missense variant	-	NC_000002.12:g.120990308G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Cys1466Tyr	rs755954458	missense variant	-	NC_000002.12:g.120990311G>A	ExAC,gnomAD
GLI2	P10070	p.Val1468Ala	rs1334370693	missense variant	-	NC_000002.12:g.120990317T>C	gnomAD
GLI2	P10070	p.Met1469Leu	rs1347544585	missense variant	-	NC_000002.12:g.120990319A>T	gnomAD
GLI2	P10070	p.Arg1470Trp	rs867533231	missense variant	-	NC_000002.12:g.120990322C>T	gnomAD
GLI2	P10070	p.Arg1470Gln	rs201680468	missense variant	-	NC_000002.12:g.120990323G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1471Pro	rs757602988	missense variant	-	NC_000002.12:g.120990325T>C	ExAC,gnomAD
GLI2	P10070	p.Ser1471Cys	rs867501490	missense variant	-	NC_000002.12:g.120990326C>G	TOPMed,gnomAD
GLI2	P10070	p.Ser1471Phe	rs867501490	missense variant	-	NC_000002.12:g.120990326C>T	TOPMed,gnomAD
GLI2	P10070	p.Pro1474Leu	rs779265139	missense variant	-	NC_000002.12:g.120990335C>T	ExAC,gnomAD
GLI2	P10070	p.Cys1479Tyr	rs1281305560	missense variant	-	NC_000002.12:g.120990350G>A	gnomAD
GLI2	P10070	p.Asp1481Asn	rs1249684727	missense variant	-	NC_000002.12:g.120990355G>A	gnomAD
GLI2	P10070	p.Asp1481Glu	rs201051196	missense variant	-	NC_000002.12:g.120990357C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1484Arg	rs1348855997	missense variant	-	NC_000002.12:g.120990365A>G	TOPMed
GLI2	P10070	p.Gln1484His	rs780228031	missense variant	-	NC_000002.12:g.120990366G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1485Ala	rs145958673	missense variant	-	NC_000002.12:g.120990367C>G	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1485Thr	rs145958673	missense variant	-	NC_000002.12:g.120990367C>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gln1486Leu	rs769010893	missense variant	-	NC_000002.12:g.120990371A>T	ExAC,gnomAD
GLI2	P10070	p.Leu1488Phe	rs146403211	missense variant	-	NC_000002.12:g.120990378G>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1489Ser	rs773996121	missense variant	-	NC_000002.12:g.120990379C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1491Ser	rs1388900287	missense variant	-	NC_000002.12:g.120990385C>T	gnomAD
GLI2	P10070	p.Pro1491Arg	rs1304191660	missense variant	-	NC_000002.12:g.120990386C>G	gnomAD
GLI2	P10070	p.Val1500Met	rs1327135240	missense variant	-	NC_000002.12:g.120990412G>A	TOPMed,gnomAD
GLI2	P10070	p.Ser1502Pro	rs760708035	missense variant	-	NC_000002.12:g.120990418T>C	ExAC,gnomAD
GLI2	P10070	p.Leu1504Phe	rs763917549	missense variant	-	NC_000002.12:g.120990424C>T	ExAC,gnomAD
GLI2	P10070	p.Leu1504Pro	rs1039469636	missense variant	-	NC_000002.12:g.120990425T>C	TOPMed
GLI2	P10070	p.Glu1506Gly	rs754008467	missense variant	-	NC_000002.12:g.120990431A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1507Val	rs757408573	missense variant	-	NC_000002.12:g.120990434C>T	ExAC,gnomAD
GLI2	P10070	p.Ala1507Gly	rs757408573	missense variant	-	NC_000002.12:g.120990434C>G	ExAC,gnomAD
GLI2	P10070	p.Ala1507Ser	rs1187651972	missense variant	-	NC_000002.12:g.120990433G>T	TOPMed
GLI2	P10070	p.Pro1508Thr	rs1490117894	missense variant	-	NC_000002.12:g.120990436C>A	gnomAD
GLI2	P10070	p.Gln1509Arg	rs900924402	missense variant	-	NC_000002.12:g.120990440A>G	gnomAD
GLI2	P10070	p.Gln1509Pro	rs900924402	missense variant	-	NC_000002.12:g.120990440A>C	gnomAD
GLI2	P10070	p.Gln1509Lys	rs1170816516	missense variant	-	NC_000002.12:g.120990439C>A	TOPMed,gnomAD
GLI2	P10070	p.Gln1509His	rs758647029	missense variant	-	NC_000002.12:g.120990441G>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile1510Thr	rs780501158	missense variant	-	NC_000002.12:g.120990443T>C	ExAC,gnomAD
GLI2	P10070	p.Phe1512Leu	rs1261322311	missense variant	-	NC_000002.12:g.120990448T>C	TOPMed
GLI2	P10070	p.Asp1513Asn	rs755563767	missense variant	-	NC_000002.12:g.120990451G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1513His	rs755563767	missense variant	-	NC_000002.12:g.120990451G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ile1515Val	rs781541846	missense variant	-	NC_000002.12:g.120990457A>G	ExAC,gnomAD
GLI2	P10070	p.Met1516Val	rs1365370523	missense variant	-	NC_000002.12:g.120990460A>G	TOPMed,gnomAD
GLI2	P10070	p.Met1516Thr	rs147896208	missense variant	-	NC_000002.12:g.120990461T>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1516Lys	rs147896208	missense variant	-	NC_000002.12:g.120990461T>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1519Asp	rs745550412	missense variant	-	NC_000002.12:g.120990470G>A	ExAC,gnomAD
GLI2	P10070	p.Gly1519Ser	rs565831399	missense variant	-	NC_000002.12:g.120990469G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1520His	rs114814747	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990472G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1520Glu	rs148902971	missense variant	-	NC_000002.12:g.120990474T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1520Asn	rs114814747	missense variant	Culler-Jones syndrome (CJS)	NC_000002.12:g.120990472G>A	UniProt,dbSNP
GLI2	P10070	p.Asp1520Asn	VAR_075217	missense variant	Culler-Jones syndrome (CJS)	NC_000002.12:g.120990472G>A	UniProt
GLI2	P10070	p.Asp1520Asn	rs114814747	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Asp1520Asn	rs114814747	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1521Tyr	rs199843410	missense variant	-	NC_000002.12:g.120990475C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1521Asp	rs199843410	missense variant	-	NC_000002.12:g.120990475C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.His1521Gln	rs758740791	missense variant	-	NC_000002.12:g.120990477C>G	ExAC,gnomAD
GLI2	P10070	p.Ser1522Trp	rs766495260	missense variant	-	NC_000002.12:g.120990479C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1522Leu	rs766495260	missense variant	-	NC_000002.12:g.120990479C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Phe1525Leu	rs1191962515	missense variant	-	NC_000002.12:g.120990487T>C	TOPMed
GLI2	P10070	p.Ser1526Pro	rs556121868	missense variant	-	NC_000002.12:g.120990490T>C	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Ser1526Leu	rs781561335	missense variant	-	NC_000002.12:g.120990491C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Gly1527Ser	rs1259103009	missense variant	-	NC_000002.12:g.120990493G>A	gnomAD
GLI2	P10070	p.Gly1527Asp	rs1206947298	missense variant	-	NC_000002.12:g.120990494G>A	TOPMed
GLI2	P10070	p.Ser1530Asn	rs778433771	missense variant	-	NC_000002.12:g.120990503G>A	ExAC,gnomAD
GLI2	P10070	p.Leu1533Pro	rs202078730	missense variant	-	NC_000002.12:g.120990512T>C	TOPMed
GLI2	P10070	p.Leu1534Ile	rs745361113	missense variant	-	NC_000002.12:g.120990514C>A	ExAC,gnomAD
GLI2	P10070	p.His1535Tyr	rs1443181771	missense variant	-	NC_000002.12:g.120990517C>T	gnomAD
GLI2	P10070	p.Leu1537Val	rs1212934121	missense variant	-	NC_000002.12:g.120990523C>G	TOPMed
GLI2	P10070	p.Ser1538Pro	rs1160889773	missense variant	-	NC_000002.12:g.120990526T>C	gnomAD
GLI2	P10070	p.Asn1540Thr	rs1346155691	missense variant	-	NC_000002.12:g.120990533A>C	gnomAD
GLI2	P10070	p.Ser1541Pro	rs1453373894	missense variant	-	NC_000002.12:g.120990535T>C	gnomAD
GLI2	P10070	p.Ser1541Tyr	rs199887024	missense variant	-	NC_000002.12:g.120990536C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1543His	rs138987487	missense variant	-	NC_000002.12:g.120990542G>A	UniProt,dbSNP
GLI2	P10070	p.Arg1543His	VAR_075218	missense variant	-	NC_000002.12:g.120990542G>A	UniProt
GLI2	P10070	p.Arg1543His	rs138987487	missense variant	-	NC_000002.12:g.120990542G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1543Cys	rs141573066	missense variant	-	NC_000002.12:g.120990541C>T	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Thr1546Asn	rs776523101	missense variant	-	NC_000002.12:g.120990551C>A	ExAC,gnomAD
GLI2	P10070	p.Thr1546Ile	rs776523101	missense variant	-	NC_000002.12:g.120990551C>T	ExAC,gnomAD
GLI2	P10070	p.Pro1547Leu	rs769826605	missense variant	-	NC_000002.12:g.120990554C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1547Arg	rs769826605	missense variant	-	NC_000002.12:g.120990554C>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1547His	rs769826605	missense variant	-	NC_000002.12:g.120990554C>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1548Gln	rs371304728	missense variant	-	NC_000002.12:g.120990557G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Arg1548Gly	rs1237907959	missense variant	-	NC_000002.12:g.120990556C>G	gnomAD
GLI2	P10070	p.Asn1549Tyr	rs1462271727	missense variant	-	NC_000002.12:g.120990559A>T	TOPMed,gnomAD
GLI2	P10070	p.Asn1549Lys	rs759754641	missense variant	-	NC_000002.12:g.120990561C>G	ExAC,gnomAD
GLI2	P10070	p.Thr1552Ala	rs1057518657	missense variant	-	NC_000002.12:g.120990568A>G	gnomAD
GLI2	P10070	p.Thr1552Ser	rs1057518657	missense variant	-	NC_000002.12:g.120990568A>T	gnomAD
GLI2	P10070	p.Pro1554Leu	rs767802807	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120990575C>T	UniProt,dbSNP
GLI2	P10070	p.Pro1554Leu	VAR_032978	missense variant	Holoprosencephaly 9 (HPE9)	NC_000002.12:g.120990575C>T	UniProt
GLI2	P10070	p.Pro1554Leu	rs767802807	missense variant	-	NC_000002.12:g.120990575C>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1555Pro	rs144372453	missense variant	Holoprosencephaly 9 (hpe9)	NC_000002.12:g.120990577T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Pro1557Arg	rs778241780	missense variant	-	NC_000002.12:g.120990584C>G	ExAC,gnomAD
GLI2	P10070	p.Ala1558Thr	rs200551009	missense variant	-	NC_000002.12:g.120990586G>A	1000Genomes,ExAC,gnomAD
GLI2	P10070	p.Met1563Thr	rs1175866571	missense variant	-	NC_000002.12:g.120990602T>C	gnomAD
GLI2	P10070	p.Val1565Gly	rs1468856100	missense variant	-	NC_000002.12:g.120990608T>G	TOPMed
GLI2	P10070	p.Gly1566Arg	rs768317485	missense variant	-	NC_000002.12:g.120990610G>A	ExAC,gnomAD
GLI2	P10070	p.Thr1573Asn	rs1390539682	missense variant	-	NC_000002.12:g.120990632C>A	gnomAD
GLI2	P10070	p.Thr1573Pro	rs1373825712	missense variant	-	NC_000002.12:g.120990631A>C	gnomAD
GLI2	P10070	p.Ala1576Pro	rs367918973	missense variant	-	NC_000002.12:g.120990640G>C	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ala1576Thr	rs367918973	missense variant	-	NC_000002.12:g.120990640G>A	ESP,ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1577Lys	rs770936696	missense variant	-	NC_000002.12:g.120990643G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Glu1577Gln	rs770936696	missense variant	-	NC_000002.12:g.120990643G>C	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1579Cys	rs774448389	missense variant	-	NC_000002.12:g.120990649A>T	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Ser1579Asn	rs759715103	missense variant	-	NC_000002.12:g.120990650G>A	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Phe1581Leu	rs1397595368	missense variant	-	NC_000002.12:g.120990657C>G	TOPMed
GLI2	P10070	p.Met1584Val	rs767702977	missense variant	-	NC_000002.12:g.120990664A>G	ExAC,TOPMed,gnomAD
GLI2	P10070	p.Met1585Thr	rs1480924803	missense variant	-	NC_000002.12:g.120990668T>C	TOPMed,gnomAD
GLI2	P10070	p.Met1585Lys	rs1480924803	missense variant	-	NC_000002.12:g.120990668T>A	TOPMed,gnomAD
GLI2	P10070	p.Thr1586Ala	rs1174326854	missense variant	-	NC_000002.12:g.120990670A>G	TOPMed
GLI2	P10070	p.Ter1587Gln	rs529216641	stop lost	-	NC_000002.12:g.120990673T>C	1000Genomes
GLI3	P10071	p.Glu2Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42223248C>A	NCI-TCGA
GLI3	P10071	p.Ala3Val	rs909990468	missense variant	-	NC_000007.14:g.42223246G>A	TOPMed
GLI3	P10071	p.Gln4His	rs759398617	missense variant	-	NC_000007.14:g.42223242C>G	ExAC,gnomAD
GLI3	P10071	p.Gln4Arg	rs867197495	missense variant	-	NC_000007.14:g.42223243T>C	TOPMed,gnomAD
GLI3	P10071	p.Ser5Thr	rs776566842	missense variant	-	NC_000007.14:g.42223241A>T	ExAC,gnomAD
GLI3	P10071	p.Ser5Phe	rs951372592	missense variant	-	NC_000007.14:g.42223240G>A	TOPMed
GLI3	P10071	p.Ser8Pro	rs760843140	missense variant	-	NC_000007.14:g.42223232A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser8Cys	COSM1131583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42223231G>C	NCI-TCGA Cosmic
GLI3	P10071	p.Thr9Met	rs772316921	missense variant	-	NC_000007.14:g.42223228G>A	ExAC,gnomAD
GLI3	P10071	p.Thr10Asn	rs1554341697	missense variant	-	NC_000007.14:g.42223225G>T	-
GLI3	P10071	p.Thr10Asn	RCV000594890	missense variant	-	NC_000007.14:g.42223225G>T	ClinVar
GLI3	P10071	p.Lys13Asn	rs1452276170	missense variant	-	NC_000007.14:g.42223215C>G	TOPMed
GLI3	P10071	p.Lys13Asn	rs1452276170	missense variant	-	NC_000007.14:g.42223215C>A	TOPMed
GLI3	P10071	p.Val16SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.42223208_42223209insT	NCI-TCGA
GLI3	P10071	p.Glu17Asp	rs1435539212	missense variant	-	NC_000007.14:g.42223203C>A	TOPMed
GLI3	P10071	p.Glu17Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.42223205C>A	NCI-TCGA
GLI3	P10071	p.Asn18Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42223200A>T	NCI-TCGA
GLI3	P10071	p.Ser19Pro	rs769148448	missense variant	-	NC_000007.14:g.42223199A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser19Thr	rs769148448	missense variant	-	NC_000007.14:g.42223199A>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile20Val	rs1225418469	missense variant	-	NC_000007.14:g.42223196T>C	gnomAD
GLI3	P10071	p.Val21Ala	rs749763645	missense variant	-	NC_000007.14:g.42223192A>G	ExAC,gnomAD
GLI3	P10071	p.Lys22Arg	rs780737199	missense variant	-	NC_000007.14:g.42223189T>C	ExAC,gnomAD
GLI3	P10071	p.Cys23Tyr	rs756617411	missense variant	-	NC_000007.14:g.42223186C>T	ExAC,gnomAD
GLI3	P10071	p.Thr25Ala	rs1453190319	missense variant	-	NC_000007.14:g.42223181T>C	TOPMed
GLI3	P10071	p.Arg26Gln	rs751057099	missense variant	-	NC_000007.14:g.42223177C>T	ExAC
GLI3	P10071	p.Arg26Ter	rs201778054	stop gained	-	NC_000007.14:g.42223178G>A	gnomAD
GLI3	P10071	p.Asp28Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42223172C>T	NCI-TCGA
GLI3	P10071	p.Asp28Ala	COSM1089701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42223171T>G	NCI-TCGA Cosmic
GLI3	P10071	p.Val29Leu	rs777203491	missense variant	-	NC_000007.14:g.42223169C>G	ExAC,gnomAD
GLI3	P10071	p.Val29Met	rs777203491	missense variant	-	NC_000007.14:g.42223169C>T	ExAC,gnomAD
GLI3	P10071	p.Ser30Asn	rs1389494764	missense variant	-	NC_000007.14:g.42223165C>T	gnomAD
GLI3	P10071	p.Val34Ile	rs201887880	missense variant	-	NC_000007.14:g.42223154C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val34Leu	rs201887880	missense variant	-	NC_000007.14:g.42223154C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val34Phe	rs201887880	missense variant	-	NC_000007.14:g.42223154C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser36Phe	COSM1089699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42223147G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ser37Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42223144C>T	NCI-TCGA
GLI3	P10071	p.Thr38Ile	rs1303088630	missense variant	-	NC_000007.14:g.42223141G>A	TOPMed
GLI3	P10071	p.Asn41Asp	rs753737306	missense variant	-	NC_000007.14:g.42223133T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu42ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.42148459_42148468CTTTCATCCT>-	NCI-TCGA
GLI3	P10071	p.Glu42Asp	rs750334342	missense variant	-	NC_000007.14:g.42148467C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp43Asn	rs767324347	missense variant	-	NC_000007.14:g.42148466C>T	ExAC,gnomAD
GLI3	P10071	p.Ser45Arg	rs757308833	missense variant	-	NC_000007.14:g.42148458A>T	ExAC,gnomAD
GLI3	P10071	p.Gly47Glu	rs1353540751	missense variant	-	NC_000007.14:g.42148453C>T	gnomAD
GLI3	P10071	p.Thr49Ile	rs751675912	missense variant	-	NC_000007.14:g.42148447G>A	ExAC,gnomAD
GLI3	P10071	p.His51Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42148441T>G	NCI-TCGA
GLI3	P10071	p.Arg55Lys	rs764332121	missense variant	-	NC_000007.14:g.42148429C>T	ExAC,gnomAD
GLI3	P10071	p.Ala57Ser	rs775586921	missense variant	-	NC_000007.14:g.42148424C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala57Thr	rs775586921	missense variant	-	NC_000007.14:g.42148424C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met60Val	rs777096127	missense variant	-	NC_000007.14:g.42148415T>C	ExAC,gnomAD
GLI3	P10071	p.Met60Thr	rs771410208	missense variant	-	NC_000007.14:g.42148414A>G	ExAC,gnomAD
GLI3	P10071	p.Gln61Arg	rs1387110491	missense variant	-	NC_000007.14:g.42148411T>C	gnomAD
GLI3	P10071	p.Gln61Ter	COSM1450746	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.42148412G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro62Gln	rs1237875843	missense variant	-	NC_000007.14:g.42148408G>T	TOPMed
GLI3	P10071	p.Pro62Ser	rs1156565962	missense variant	-	NC_000007.14:g.42148409G>A	gnomAD
GLI3	P10071	p.Gln63His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42148404C>A	NCI-TCGA
GLI3	P10071	p.Asn64Ile	rs1436714121	missense variant	-	NC_000007.14:g.42148402T>A	gnomAD
GLI3	P10071	p.Val65Ile	rs768159398	missense variant	-	NC_000007.14:g.42148400C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val65Phe	rs768159398	missense variant	-	NC_000007.14:g.42148400C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly67Arg	rs374123528	missense variant	-	NC_000007.14:g.42148394C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly67Val	rs1242592637	missense variant	-	NC_000007.14:g.42148393C>A	gnomAD
GLI3	P10071	p.Leu68Pro	rs1384973713	missense variant	-	NC_000007.14:g.42148390A>G	TOPMed,gnomAD
GLI3	P10071	p.Val71Phe	rs143843875	missense variant	-	NC_000007.14:g.42148382C>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val71Ile	RCV000610080	missense variant	-	NC_000007.14:g.42148382C>T	ClinVar
GLI3	P10071	p.Val71Ile	rs143843875	missense variant	-	NC_000007.14:g.42148382C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val71Ile	RCV000555251	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42148382C>T	ClinVar
GLI3	P10071	p.Ser72Cys	rs781099604	missense variant	-	NC_000007.14:g.42148379T>A	ExAC,gnomAD
GLI3	P10071	p.Pro75Thr	rs369237977	missense variant	-	NC_000007.14:g.42148370G>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro75Ala	rs369237977	missense variant	-	NC_000007.14:g.42148370G>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro75Ala	RCV000294796	missense variant	-	NC_000007.14:g.42148370G>C	ClinVar
GLI3	P10071	p.Ser78Ala	rs1356902565	missense variant	-	NC_000007.14:g.42148361A>C	TOPMed,gnomAD
GLI3	P10071	p.Ser78Leu	rs777937822	missense variant	-	NC_000007.14:g.42148360G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser79Cys	rs752921254	missense variant	-	NC_000007.14:g.42148358T>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu81Lys	rs376725882	missense variant	-	NC_000007.14:g.42148352C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu81Lys	RCV000764716	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42148352C>T	ClinVar
GLI3	P10071	p.Glu81Lys	RCV000255549	missense variant	-	NC_000007.14:g.42148352C>T	ClinVar
GLI3	P10071	p.Arg82Lys	rs754143860	missense variant	-	NC_000007.14:g.42148348C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala83Ser	rs538102673	missense variant	-	NC_000007.14:g.42148346C>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Ser84Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.42148342G>T	NCI-TCGA
GLI3	P10071	p.Ser84Leu	rs1465405435	missense variant	-	NC_000007.14:g.42148342G>A	gnomAD
GLI3	P10071	p.Ile86Thr	rs1443869755	missense variant	-	NC_000007.14:g.42148336A>G	TOPMed
GLI3	P10071	p.Lys87Arg	rs931618414	missense variant	-	NC_000007.14:g.42148333T>C	TOPMed,gnomAD
GLI3	P10071	p.Glu89Ala	rs1374017405	missense variant	-	NC_000007.14:g.42148327T>G	TOPMed
GLI3	P10071	p.His91Arg	rs768107926	missense variant	-	NC_000007.14:g.42148321T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly92Trp	rs1193014287	missense variant	-	NC_000007.14:g.42148319C>A	gnomAD
GLI3	P10071	p.Pro95Ser	rs1220785116	missense variant	-	NC_000007.14:g.42148310G>A	gnomAD
GLI3	P10071	p.His96Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42148306T>C	NCI-TCGA
GLI3	P10071	p.His96Asn	rs745600488	missense variant	-	NC_000007.14:g.42148307G>T	ExAC,gnomAD
GLI3	P10071	p.Val97Met	rs746891909	missense variant	-	NC_000007.14:g.42148304C>T	ExAC,gnomAD
GLI3	P10071	p.Val97Leu	rs746891909	missense variant	-	NC_000007.14:g.42148304C>A	ExAC,gnomAD
GLI3	P10071	p.Val97Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42148304C>G	NCI-TCGA
GLI3	P10071	p.Ala98Val	rs763808074	missense variant	-	NC_000007.14:g.42148300G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro100Ser	rs1346123788	missense variant	-	NC_000007.14:g.42148295G>A	gnomAD
GLI3	P10071	p.Pro103Leu	rs755154814	missense variant	-	NC_000007.14:g.42148285G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro103Ser	rs752699928	missense variant	-	NC_000007.14:g.42148286G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro103Arg	rs755154814	missense variant	-	NC_000007.14:g.42148285G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Tyr104Asp	rs1329720557	missense variant	-	NC_000007.14:g.42148283A>C	gnomAD
GLI3	P10071	p.Arg105His	rs750890677	missense variant	-	NC_000007.14:g.42148279C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg105Gly	rs555794809	missense variant	-	NC_000007.14:g.42148280G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg105Cys	RCV000413583	missense variant	-	NC_000007.14:g.42148280G>A	ClinVar
GLI3	P10071	p.Arg105Cys	rs555794809	missense variant	-	NC_000007.14:g.42148280G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly106Arg	rs762438272	missense variant	-	NC_000007.14:g.42148277C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr107Met	rs769350082	missense variant	-	NC_000007.14:g.42148273G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr107Ala	rs774858780	missense variant	-	NC_000007.14:g.42148274T>C	ExAC,gnomAD
GLI3	P10071	p.Met111Leu	rs776441520	missense variant	-	NC_000007.14:g.42148262T>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met111Val	rs776441520	missense variant	-	NC_000007.14:g.42148262T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro113Arg	rs1270242673	missense variant	-	NC_000007.14:g.42148255G>C	TOPMed,gnomAD
GLI3	P10071	p.Pro113His	rs1270242673	missense variant	-	NC_000007.14:g.42148255G>T	TOPMed,gnomAD
GLI3	P10071	p.Arg114Lys	rs146458902	missense variant	-	NC_000007.14:g.42148252C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg114Gly	rs770806910	missense variant	-	NC_000007.14:g.42148253T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg114Lys	RCV000501667	missense variant	-	NC_000007.14:g.42148252C>T	ClinVar
GLI3	P10071	p.Asn115His	rs1415131618	missense variant	-	NC_000007.14:g.42148250T>G	TOPMed
GLI3	P10071	p.Tyr117Cys	rs1313107025	missense variant	-	NC_000007.14:g.42148243T>C	gnomAD
GLI3	P10071	p.Met118Thr	rs886062339	missense variant	-	NC_000007.14:g.42148240A>G	-
GLI3	P10071	p.Met118Thr	RCV000315395	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42148240A>G	ClinVar
GLI3	P10071	p.Met118Thr	RCV000408372	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.42148240A>G	ClinVar
GLI3	P10071	p.Met118Thr	RCV000350390	missense variant	Polydactyly	NC_000007.14:g.42148240A>G	ClinVar
GLI3	P10071	p.His121Pro	rs573909106	missense variant	-	NC_000007.14:g.42148231T>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.His123Tyr	rs199909375	missense variant	-	NC_000007.14:g.42148226G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.His123Asn	rs199909375	missense variant	-	NC_000007.14:g.42148226G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.His123GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.42076856_42076857insT	NCI-TCGA
GLI3	P10071	p.His123Tyr	RCV000335666	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.42148226G>A	ClinVar
GLI3	P10071	p.His123Tyr	RCV000390009	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42148226G>A	ClinVar
GLI3	P10071	p.His123Tyr	RCV000300541	missense variant	Polydactyly	NC_000007.14:g.42148226G>A	ClinVar
GLI3	P10071	p.His126Asn	rs781353650	missense variant	-	NC_000007.14:g.42076849G>T	ExAC,gnomAD
GLI3	P10071	p.Leu127Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42076846G>A	NCI-TCGA
GLI3	P10071	p.Pro129Arg	rs1276292491	missense variant	-	NC_000007.14:g.42076839G>C	TOPMed
GLI3	P10071	p.Ala130Val	rs188424087	missense variant	-	NC_000007.14:g.42076836G>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Ala130Thr	rs965164354	missense variant	-	NC_000007.14:g.42076837C>T	-
GLI3	P10071	p.His132Arg	rs1285055291	missense variant	-	NC_000007.14:g.42076830T>C	gnomAD
GLI3	P10071	p.Pro133Arg	rs1246987676	missense variant	-	NC_000007.14:g.42076827G>C	gnomAD
GLI3	P10071	p.Pro134Ser	COSM485331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42076825G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Val135Ile	rs753387815	missense variant	-	NC_000007.14:g.42076822C>T	ExAC,gnomAD
GLI3	P10071	p.Pro136Ser	rs766056955	missense variant	-	NC_000007.14:g.42076819G>A	ExAC,gnomAD
GLI3	P10071	p.Pro136Thr	COSM4918042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42076819G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Pro136Arg	rs760340177	missense variant	-	NC_000007.14:g.42076818G>C	ExAC,gnomAD
GLI3	P10071	p.Ile137Val	rs767168924	missense variant	-	NC_000007.14:g.42076816T>C	ExAC,gnomAD
GLI3	P10071	p.Ala139Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42076809G>T	NCI-TCGA
GLI3	P10071	p.Ala139Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42076810C>A	NCI-TCGA
GLI3	P10071	p.Ala139Thr	COSM3881029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42076810C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Glu143Lys	rs1304190513	missense variant	-	NC_000007.14:g.42076798C>T	gnomAD
GLI3	P10071	p.Arg145His	rs768622457	missense variant	-	NC_000007.14:g.42076791C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg145Cys	rs140099767	missense variant	-	NC_000007.14:g.42076792G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.His147Tyr	rs775481654	missense variant	-	NC_000007.14:g.42076786G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp149Asn	rs960718476	missense variant	-	NC_000007.14:g.42076780C>T	TOPMed,gnomAD
GLI3	P10071	p.Asp149Gly	rs746037889	missense variant	-	NC_000007.14:g.42076779T>C	ExAC,gnomAD
GLI3	P10071	p.Asp149Glu	rs781504214	missense variant	-	NC_000007.14:g.42076778A>T	ExAC
GLI3	P10071	p.Asp149His	rs960718476	missense variant	-	NC_000007.14:g.42076780C>G	TOPMed,gnomAD
GLI3	P10071	p.Pro150Ser	rs771095954	missense variant	-	NC_000007.14:g.42076777G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro152Leu	rs778060205	missense variant	-	NC_000007.14:g.42076770G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro152Ala	rs1175090672	missense variant	-	NC_000007.14:g.42076771G>C	TOPMed
GLI3	P10071	p.Pro154Thr	rs753263825	missense variant	-	NC_000007.14:g.42076765G>T	ExAC,gnomAD
GLI3	P10071	p.Pro155Ser	rs868656005	missense variant	-	NC_000007.14:g.42076762G>A	TOPMed,gnomAD
GLI3	P10071	p.His157Arg	rs1032432055	missense variant	-	NC_000007.14:g.42076755T>C	TOPMed
GLI3	P10071	p.Thr159Ile	rs1343954002	missense variant	-	NC_000007.14:g.42048694G>A	gnomAD
GLI3	P10071	p.Ser160Phe	rs779595377	missense variant	-	NC_000007.14:g.42048691G>A	ExAC,gnomAD
GLI3	P10071	p.Ala161Thr	rs749928041	missense variant	-	NC_000007.14:g.42048689C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala161Ser	COSM6110252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42048689C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ser163Pro	rs756865273	missense variant	-	NC_000007.14:g.42048683A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser164Asn	rs751184252	missense variant	-	NC_000007.14:g.42048679C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro166Ser	rs573367895	missense variant	-	NC_000007.14:g.42048674G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr167Met	rs752525209	missense variant	-	NC_000007.14:g.42048670G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr167Ala	rs1281683397	missense variant	-	NC_000007.14:g.42048671T>C	TOPMed
GLI3	P10071	p.Tyr168Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42048667T>A	NCI-TCGA
GLI3	P10071	p.Pro169Leu	rs1419861206	missense variant	-	NC_000007.14:g.42048664G>A	TOPMed,gnomAD
GLI3	P10071	p.Asp170Tyr	rs570058828	missense variant	-	NC_000007.14:g.42048662C>A	gnomAD
GLI3	P10071	p.Phe173Ser	rs766376553	missense variant	-	NC_000007.14:g.42048652A>G	ExAC,gnomAD
GLI3	P10071	p.Ile174Val	rs1263837741	missense variant	-	NC_000007.14:g.42048650T>C	TOPMed,gnomAD
GLI3	P10071	p.Arg175Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42048646C>T	NCI-TCGA
GLI3	P10071	p.Arg175ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.42048648_42048649insCAGATGGT	NCI-TCGA
GLI3	P10071	p.Ile176Met	rs539622820	missense variant	-	NC_000007.14:g.42048642G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile176Met	RCV000244551	missense variant	-	NC_000007.14:g.42048642G>C	ClinVar
GLI3	P10071	p.Ile176Val	COSM3638713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42048644T>C	NCI-TCGA Cosmic
GLI3	P10071	p.Pro178Thr	rs1255750731	missense variant	-	NC_000007.14:g.42048638G>T	gnomAD
GLI3	P10071	p.Arg180Gln	rs140772904	missense variant	-	NC_000007.14:g.42048631C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg180Gly	rs772526084	missense variant	-	NC_000007.14:g.42048632G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg180Trp	rs772526084	missense variant	-	NC_000007.14:g.42048632G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro182Ser	rs995083372	missense variant	-	NC_000007.14:g.42048626G>A	TOPMed
GLI3	P10071	p.Thr183Ala	rs846266	missense variant	-	NC_000007.14:g.42048623T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr183Ala	rs846266	missense variant	-	NC_000007.14:g.42048623T>C	UniProt,dbSNP
GLI3	P10071	p.Thr183Ala	VAR_028276	missense variant	-	NC_000007.14:g.42048623T>C	UniProt
GLI3	P10071	p.Thr183Ala	RCV000253268	missense variant	-	NC_000007.14:g.42048623T>C	ClinVar
GLI3	P10071	p.Thr183Ala	RCV000301892	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.42048623T>C	ClinVar
GLI3	P10071	p.Thr183Ala	RCV000359147	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42048623T>C	ClinVar
GLI3	P10071	p.Thr183Ala	RCV000755279	missense variant	-	NC_000007.14:g.42048623T>C	ClinVar
GLI3	P10071	p.Thr183Ala	RCV000393085	missense variant	Polydactyly	NC_000007.14:g.42048623T>C	ClinVar
GLI3	P10071	p.Ser186Tyr	rs1476520885	missense variant	-	NC_000007.14:g.42048613G>T	TOPMed
GLI3	P10071	p.Ser186Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42048613G>A	NCI-TCGA
GLI3	P10071	p.Ser188Tyr	rs369926331	missense variant	-	NC_000007.14:g.42048607G>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser188Phe	rs369926331	missense variant	-	NC_000007.14:g.42048607G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser188Ala	rs1400535423	missense variant	-	NC_000007.14:g.42048608A>C	TOPMed
GLI3	P10071	p.Ser188Tyr	RCV000614792	missense variant	-	NC_000007.14:g.42048607G>T	ClinVar
GLI3	P10071	p.Pro189Leu	rs746632801	missense variant	-	NC_000007.14:g.42048604G>A	ExAC,gnomAD
GLI3	P10071	p.Pro189Ser	rs201940674	missense variant	-	NC_000007.14:g.42048605G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Phe190Cys	rs1447772461	missense variant	-	NC_000007.14:g.42048601A>C	TOPMed
GLI3	P10071	p.Phe190Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42048602A>T	NCI-TCGA
GLI3	P10071	p.Pro192His	COSM1450740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42048595G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Pro192Leu	rs568307651	missense variant	-	NC_000007.14:g.42048595G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.His194Tyr	rs1438179630	missense variant	-	NC_000007.14:g.42048590G>A	gnomAD
GLI3	P10071	p.Pro195Ser	rs1157012884	missense variant	-	NC_000007.14:g.42048587G>A	gnomAD
GLI3	P10071	p.Pro195Leu	COSM3638712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42048586G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Tyr196Cys	rs1243813680	missense variant	-	NC_000007.14:g.42048583T>C	gnomAD
GLI3	P10071	p.Ile197Leu	rs1441163982	missense variant	-	NC_000007.14:g.42048581T>G	gnomAD
GLI3	P10071	p.Ile197Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42048580A>G	NCI-TCGA
GLI3	P10071	p.Pro199Ser	COSM1698607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42048575G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Tyr200Cys	rs754879090	missense variant	-	NC_000007.14:g.42048571T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met201Val	rs766434502	missense variant	-	NC_000007.14:g.42048569T>C	ExAC,gnomAD
GLI3	P10071	p.Asp202Glu	rs1284406576	missense variant	-	NC_000007.14:g.42048564G>T	TOPMed,gnomAD
GLI3	P10071	p.Ile204Met	rs760701023	missense variant	-	NC_000007.14:g.42048558G>C	ExAC,gnomAD
GLI3	P10071	p.Arg205His	rs749940791	missense variant	-	NC_000007.14:g.42048556C>T	ExAC,gnomAD
GLI3	P10071	p.Arg205Gly	rs767832980	missense variant	-	NC_000007.14:g.42048557G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg205Cys	rs767832980	missense variant	-	NC_000007.14:g.42048557G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro211Ala	rs1333364888	missense variant	-	NC_000007.14:g.42048539G>C	TOPMed,gnomAD
GLI3	P10071	p.Pro211Ser	rs1333364888	missense variant	-	NC_000007.14:g.42048539G>A	TOPMed,gnomAD
GLI3	P10071	p.Ser212Thr	rs749750615	missense variant	-	NC_000007.14:g.42048536A>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser212Pro	rs749750615	missense variant	-	NC_000007.14:g.42048536A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser212Leu	rs767323852	missense variant	-	NC_000007.14:g.42048535G>A	ExAC,gnomAD
GLI3	P10071	p.Ser212Ala	rs749750615	missense variant	-	NC_000007.14:g.42048536A>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser214Cys	rs886062338	missense variant	-	NC_000007.14:g.42048529G>C	gnomAD
GLI3	P10071	p.Ser214Phe	rs886062338	missense variant	-	NC_000007.14:g.42048529G>A	gnomAD
GLI3	P10071	p.Ser214Phe	RCV000288976	missense variant	Polydactyly	NC_000007.14:g.42048529G>A	ClinVar
GLI3	P10071	p.Ser214Phe	RCV000399679	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42048529G>A	ClinVar
GLI3	P10071	p.Ser214Phe	RCV000341674	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.42048529G>A	ClinVar
GLI3	P10071	p.Met215Thr	rs777321485	missense variant	-	NC_000007.14:g.42048526A>G	ExAC,gnomAD
GLI3	P10071	p.Met215Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42048525C>A	NCI-TCGA
GLI3	P10071	p.Arg220Cys	rs758039889	missense variant	-	NC_000007.14:g.42048512G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg220His	rs747805984	missense variant	-	NC_000007.14:g.42048511C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly221Trp	rs1013811017	missense variant	-	NC_000007.14:g.42048509C>A	TOPMed,gnomAD
GLI3	P10071	p.Gly221Glu	rs1216392790	missense variant	-	NC_000007.14:g.42048508C>T	gnomAD
GLI3	P10071	p.Ser223Asn	rs778623805	missense variant	-	NC_000007.14:g.42048502C>T	ExAC,gnomAD
GLI3	P10071	p.Thr225Ala	rs149561675	missense variant	-	NC_000007.14:g.42048497T>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr225Ile	rs753769482	missense variant	-	NC_000007.14:g.42048496G>A	ExAC,gnomAD
GLI3	P10071	p.Asp226His	rs766200485	missense variant	-	NC_000007.14:g.42048494C>G	ExAC,gnomAD
GLI3	P10071	p.Asp226Tyr	rs766200485	missense variant	-	NC_000007.14:g.42048494C>A	ExAC,gnomAD
GLI3	P10071	p.Ala227Val	rs763293070	missense variant	-	NC_000007.14:g.42045530G>A	ExAC,gnomAD
GLI3	P10071	p.Pro228Ser	rs1212599716	missense variant	-	NC_000007.14:g.42045528G>A	gnomAD
GLI3	P10071	p.His229Gln	rs765636197	missense variant	-	NC_000007.14:g.42045523A>T	ExAC,gnomAD
GLI3	P10071	p.Gly231Val	rs1332020450	missense variant	-	NC_000007.14:g.42045518C>A	TOPMed,gnomAD
GLI3	P10071	p.Gly231Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42045519C>T	NCI-TCGA
GLI3	P10071	p.Val232Ala	rs377667965	missense variant	-	NC_000007.14:g.42045515A>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val232Ile	COSM1089692	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42045516C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ser233Gly	rs1245732057	missense variant	-	NC_000007.14:g.42045513T>C	gnomAD
GLI3	P10071	p.Ser233Thr	rs1182112270	missense variant	-	NC_000007.14:g.42045512C>G	gnomAD
GLI3	P10071	p.Pro234Arg	rs777145901	missense variant	-	NC_000007.14:g.42045509G>C	ExAC,gnomAD
GLI3	P10071	p.Ala235Gly	COSM94382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42045506G>C	NCI-TCGA Cosmic
GLI3	P10071	p.Glu236Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42045504C>T	NCI-TCGA
GLI3	P10071	p.Tyr237Cys	rs570375190	missense variant	-	NC_000007.14:g.42045500T>C	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.His239Asp	rs761281345	missense variant	-	NC_000007.14:g.42045495G>C	ExAC,gnomAD
GLI3	P10071	p.Gln240His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42045490C>G	NCI-TCGA
GLI3	P10071	p.Met241Thr	rs367543767	missense variant	-	NC_000007.14:g.42045488A>G	gnomAD
GLI3	P10071	p.Ala242Thr	rs978298238	missense variant	-	NC_000007.14:g.42045486C>T	TOPMed
GLI3	P10071	p.Gly246Asp	COSM1089690	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42045473C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Arg248His	rs186337909	missense variant	-	NC_000007.14:g.42045467C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg248Leu	rs186337909	missense variant	-	NC_000007.14:g.42045467C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg248Cys	rs1025335707	missense variant	-	NC_000007.14:g.42045468G>A	TOPMed,gnomAD
GLI3	P10071	p.Arg248His	RCV000253528	missense variant	-	NC_000007.14:g.42045467C>T	ClinVar
GLI3	P10071	p.Ser249Arg	rs976835805	missense variant	-	NC_000007.14:g.42045463G>T	TOPMed,gnomAD
GLI3	P10071	p.Ser249Asn	rs922663080	missense variant	-	NC_000007.14:g.42045464C>T	TOPMed
GLI3	P10071	p.Pro250Ser	rs202039538	missense variant	-	NC_000007.14:g.42045462G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro250Ser	RCV000386462	missense variant	Polydactyly	NC_000007.14:g.42045462G>A	ClinVar
GLI3	P10071	p.Pro250Ser	RCV000329883	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42045462G>A	ClinVar
GLI3	P10071	p.Pro250Ser	RCV000295892	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.42045462G>A	ClinVar
GLI3	P10071	p.Tyr251Ter	RCV000627064	frameshift	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42045463del	ClinVar
GLI3	P10071	p.Ala252Glu	rs1350442024	missense variant	-	NC_000007.14:g.42045455G>T	gnomAD
GLI3	P10071	p.Asp253Asn	rs1374756770	missense variant	-	NC_000007.14:g.42045453C>T	gnomAD
GLI3	P10071	p.Ile254Thr	rs779649957	missense variant	-	NC_000007.14:g.42045449A>G	ExAC,gnomAD
GLI3	P10071	p.Pro256Leu	rs769650527	missense variant	-	NC_000007.14:g.42045443G>A	ExAC,gnomAD
GLI3	P10071	p.Ala258Ser	rs757304776	missense variant	-	NC_000007.14:g.42045438C>A	ExAC,gnomAD
GLI3	P10071	p.Ala259Gly	rs565817241	missense variant	-	NC_000007.14:g.42045434G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala259Val	rs565817241	missense variant	-	NC_000007.14:g.42045434G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala261Thr	rs139274834	missense variant	-	NC_000007.14:g.42045429C>T	ESP,ExAC,gnomAD
GLI3	P10071	p.Ala261Ser	rs139274834	missense variant	-	NC_000007.14:g.42045429C>A	ESP,ExAC,gnomAD
GLI3	P10071	p.Gly262Ser	rs754242984	missense variant	-	NC_000007.14:g.42045426C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly262Asp	COSM1089686	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42045425C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Thr263Arg	rs761232350	missense variant	-	NC_000007.14:g.42045422G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr263Met	rs761232350	missense variant	-	NC_000007.14:g.42045422G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr263Lys	rs761232350	missense variant	-	NC_000007.14:g.42045422G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala265Asp	COSM3698394	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42045416G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Met268Val	rs762457648	missense variant	-	NC_000007.14:g.42045408T>C	ExAC,gnomAD
GLI3	P10071	p.Leu271His	rs775236579	missense variant	-	NC_000007.14:g.42045398A>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu271Pro	rs775236579	missense variant	-	NC_000007.14:g.42045398A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.His272Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42045395T>A	NCI-TCGA
GLI3	P10071	p.Met274Val	rs769606884	missense variant	-	NC_000007.14:g.42045390T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp275Asn	rs1246757162	missense variant	-	NC_000007.14:g.42045387C>T	gnomAD
GLI3	P10071	p.Ser276Asn	rs1262185592	missense variant	-	NC_000007.14:g.42040239C>T	TOPMed
GLI3	P10071	p.Phe279Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040229G>T	NCI-TCGA
GLI3	P10071	p.Pro282Ser	rs558927729	missense variant	-	NC_000007.14:g.42040222G>A	ExAC,gnomAD
GLI3	P10071	p.Pro282Thr	rs558927729	missense variant	-	NC_000007.14:g.42040222G>T	ExAC,gnomAD
GLI3	P10071	p.Arg283Trp	rs746870989	missense variant	-	NC_000007.14:g.42040219T>A	ExAC,gnomAD
GLI3	P10071	p.Arg283Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040217C>A	NCI-TCGA
GLI3	P10071	p.Arg283Trp	RCV000634036	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42040219T>A	ClinVar
GLI3	P10071	p.Ser285Leu	rs773234799	missense variant	-	NC_000007.14:g.42040212G>A	ExAC,gnomAD
GLI3	P10071	p.Ala286Val	rs1476686800	missense variant	-	NC_000007.14:g.42040209G>A	gnomAD
GLI3	P10071	p.Arg287Ser	rs141589946	missense variant	-	NC_000007.14:g.42040205C>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro288Leu	rs543447540	missense variant	-	NC_000007.14:g.42040203G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro288Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040204G>A	NCI-TCGA
GLI3	P10071	p.Arg290Gln	rs749520162	missense variant	-	NC_000007.14:g.42040197C>T	ExAC,gnomAD
GLI3	P10071	p.Arg290Ter	RCV000014838	nonsense	Preaxial polydactyly 4 (PPD4)	NC_000007.14:g.42040198G>A	ClinVar
GLI3	P10071	p.Arg290Ter	rs121917713	stop gained	Greig cephalopolysyndactyly syndrome (gcps)	NC_000007.14:g.42040198G>A	-
GLI3	P10071	p.Arg290Leu	rs749520162	missense variant	-	NC_000007.14:g.42040197C>A	ExAC,gnomAD
GLI3	P10071	p.Arg290Ter	RCV000554724	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42040198G>A	ClinVar
GLI3	P10071	p.Arg290Ter	RCV000014837	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42040198G>A	ClinVar
GLI3	P10071	p.Arg292His	rs780340226	missense variant	-	NC_000007.14:g.42040191C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser295Pro	rs756495369	missense variant	-	NC_000007.14:g.42040183A>G	ExAC,gnomAD
GLI3	P10071	p.Ile296Leu	rs750789578	missense variant	-	NC_000007.14:g.42040180T>G	ExAC,gnomAD
GLI3	P10071	p.Ile296Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040180T>C	NCI-TCGA
GLI3	P10071	p.Leu299Pro	rs1284395680	missense variant	-	NC_000007.14:g.42040170A>G	gnomAD
GLI3	P10071	p.Asp301Asn	rs752246768	missense variant	-	NC_000007.14:g.42040165C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.His302Arg	rs367810776	missense variant	-	NC_000007.14:g.42040161T>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser303Asn	rs753565766	missense variant	-	NC_000007.14:g.42040158C>T	ExAC,gnomAD
GLI3	P10071	p.Asp305Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040153C>A	NCI-TCGA
GLI3	P10071	p.Asp305Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040151G>C	NCI-TCGA
GLI3	P10071	p.Thr312Met	rs772929930	missense variant	-	NC_000007.14:g.42040131G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro314Ala	rs929846188	missense variant	-	NC_000007.14:g.42040126G>C	TOPMed
GLI3	P10071	p.Pro314Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040126G>A	NCI-TCGA
GLI3	P10071	p.Asn315Lys	rs774351799	missense variant	-	NC_000007.14:g.42040121G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr319Met	rs749466789	missense variant	-	NC_000007.14:g.42040110G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr319Arg	rs749466789	missense variant	-	NC_000007.14:g.42040110G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu321Phe	rs769956877	missense variant	-	NC_000007.14:g.42040105G>A	ExAC,gnomAD
GLI3	P10071	p.Leu321Phe	RCV000350453	missense variant	Polydactyly	NC_000007.14:g.42040105G>A	ClinVar
GLI3	P10071	p.Leu321Phe	RCV000401377	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42040105G>A	ClinVar
GLI3	P10071	p.Leu321Phe	RCV000311946	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.42040105G>A	ClinVar
GLI3	P10071	p.Asn322Ser	rs781472475	missense variant	-	NC_000007.14:g.42040101T>C	ExAC,gnomAD
GLI3	P10071	p.Arg325His	rs781356257	missense variant	-	NC_000007.14:g.42040092C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg325Cys	rs942730954	missense variant	-	NC_000007.14:g.42040093G>A	TOPMed,gnomAD
GLI3	P10071	p.Ser326Asn	rs752125171	missense variant	-	NC_000007.14:g.42040089C>T	ExAC
GLI3	P10071	p.Ser327Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040086C>T	NCI-TCGA
GLI3	P10071	p.Ser329Ter	COSM1488551	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.42040080G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ala330Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040077G>C	NCI-TCGA
GLI3	P10071	p.Ser331Asn	rs754565420	missense variant	-	NC_000007.14:g.42040074C>T	ExAC,gnomAD
GLI3	P10071	p.Ser331Gly	rs137911969	missense variant	-	NC_000007.14:g.42040075T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Tyr334Cys	rs766109935	missense variant	-	NC_000007.14:g.42040065T>C	ExAC,gnomAD
GLI3	P10071	p.His336Gln	RCV000733769	missense variant	-	NC_000007.14:g.42040058G>T	ClinVar
GLI3	P10071	p.His336Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040060G>T	NCI-TCGA
GLI3	P10071	p.Leu337Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.42040056A>T	NCI-TCGA
GLI3	P10071	p.Ser338Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42040053G>T	NCI-TCGA
GLI3	P10071	p.Ser340Cys	rs767224180	missense variant	-	NC_000007.14:g.42040048T>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala341Ser	rs575042777	missense variant	-	NC_000007.14:g.42040045C>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Ala341Thr	rs575042777	missense variant	-	NC_000007.14:g.42040045C>T	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Ile342Val	rs771132000	missense variant	-	NC_000007.14:g.42040042T>C	ExAC,gnomAD
GLI3	P10071	p.Ser343Thr	rs1176897674	missense variant	-	NC_000007.14:g.42040038C>G	gnomAD
GLI3	P10071	p.Pro344Ser	rs779563132	missense variant	-	NC_000007.14:g.42026411G>A	ExAC,gnomAD
GLI3	P10071	p.Ala345Gly	rs755606864	missense variant	-	NC_000007.14:g.42026407G>C	ExAC,gnomAD
GLI3	P10071	p.Ser347Arg	rs780680458	missense variant	-	NC_000007.14:g.42026400G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser347Asn	rs745496352	missense variant	-	NC_000007.14:g.42026401C>T	ExAC,gnomAD
GLI3	P10071	p.Thr349Ala	rs1334612933	missense variant	-	NC_000007.14:g.42026396T>C	TOPMed
GLI3	P10071	p.Ala353Val	rs765318570	missense variant	-	NC_000007.14:g.42026383G>A	ExAC,gnomAD
GLI3	P10071	p.Ala353Thr	rs375277249	missense variant	-	NC_000007.14:g.42026384C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala353Pro	rs375277249	missense variant	-	NC_000007.14:g.42026384C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val355Ile	rs186192284	missense variant	-	NC_000007.14:g.42026378C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val355Phe	rs186192284	missense variant	-	NC_000007.14:g.42026378C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser356Pro	rs371057761	missense variant	-	NC_000007.14:g.42026375A>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu357Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42026372G>C	NCI-TCGA
GLI3	P10071	p.His358Tyr	rs1272398141	missense variant	-	NC_000007.14:g.42026369G>A	gnomAD
GLI3	P10071	p.Met359Arg	RCV000518859	missense variant	-	NC_000007.14:g.42026365A>C	ClinVar
GLI3	P10071	p.Met359Arg	rs1437242698	missense variant	-	NC_000007.14:g.42026365A>C	TOPMed
GLI3	P10071	p.Met359Ile	rs376337298	missense variant	-	NC_000007.14:g.42026364C>T	ESP,ExAC,gnomAD
GLI3	P10071	p.Met359Leu	rs1219185454	missense variant	-	NC_000007.14:g.42026366T>G	gnomAD
GLI3	P10071	p.Gln362His	rs772581621	missense variant	-	NC_000007.14:g.42026355C>A	ExAC,gnomAD
GLI3	P10071	p.Arg366Gln	rs774754578	missense variant	-	NC_000007.14:g.42026344C>T	ExAC,gnomAD
GLI3	P10071	p.Arg366Ter	COSM188306	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.42026345G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Arg366Leu	rs774754578	missense variant	-	NC_000007.14:g.42026344C>A	ExAC,gnomAD
GLI3	P10071	p.Ser369Gly	rs1325815708	missense variant	-	NC_000007.14:g.42026336T>C	gnomAD
GLI3	P10071	p.Ser369Asn	rs1385089654	missense variant	-	NC_000007.14:g.42026335C>T	gnomAD
GLI3	P10071	p.Leu370Ser	rs1443005310	missense variant	-	NC_000007.14:g.42026332A>G	TOPMed
GLI3	P10071	p.Gly371Ser	rs143523044	missense variant	-	NC_000007.14:g.42026330C>T	ESP,ExAC,gnomAD
GLI3	P10071	p.Gly371Arg	rs143523044	missense variant	-	NC_000007.14:g.42026330C>G	ESP,ExAC,gnomAD
GLI3	P10071	p.Gly371Arg	RCV000521362	missense variant	-	NC_000007.14:g.42026330C>G	ClinVar
GLI3	P10071	p.Phe374Ile	rs777494598	missense variant	-	NC_000007.14:g.42026321A>T	ExAC,gnomAD
GLI3	P10071	p.Phe374Val	rs777494598	missense variant	-	NC_000007.14:g.42026321A>C	ExAC,gnomAD
GLI3	P10071	p.Gly375Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.42026318C>A	NCI-TCGA
GLI3	P10071	p.His376Arg	rs1408878070	missense variant	-	NC_000007.14:g.42026314T>C	gnomAD
GLI3	P10071	p.His376Gln	rs200017214	missense variant	-	NC_000007.14:g.42026313G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser377Arg	rs1246885829	missense variant	-	NC_000007.14:g.42026310G>T	gnomAD
GLI3	P10071	p.Ser377Asn	rs1368808191	missense variant	-	NC_000007.14:g.42026311C>T	TOPMed
GLI3	P10071	p.Ser377Gly	rs1478573653	missense variant	-	NC_000007.14:g.42026312T>C	gnomAD
GLI3	P10071	p.Ile381Thr	rs1296340564	missense variant	-	NC_000007.14:g.42026299A>G	TOPMed
GLI3	P10071	p.Pro385Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42026288G>T	NCI-TCGA
GLI3	P10071	p.Pro385Leu	COSM3229995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42026287G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Thr386Ala	rs1449315077	missense variant	-	NC_000007.14:g.42026285T>C	gnomAD
GLI3	P10071	p.Phe387Leu	rs370794111	missense variant	-	NC_000007.14:g.42026282A>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr389Ile	rs1446808094	missense variant	-	NC_000007.14:g.42026275G>A	TOPMed
GLI3	P10071	p.Gln390Arg	rs369674475	missense variant	-	NC_000007.14:g.42026272T>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln390Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42026272T>A	NCI-TCGA
GLI3	P10071	p.Pro392Ser	rs1319962927	missense variant	-	NC_000007.14:g.42026267G>A	gnomAD
GLI3	P10071	p.Pro392Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42026267G>T	NCI-TCGA
GLI3	P10071	p.Pro392His	COSM1089678	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42026266G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ile393Val	rs1380213537	missense variant	-	NC_000007.14:g.42026264T>C	TOPMed
GLI3	P10071	p.Ile393Val	RCV000535403	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42026264T>C	ClinVar
GLI3	P10071	p.Pro394Thr	rs1255889257	missense variant	-	NC_000007.14:g.42026261G>T	gnomAD
GLI3	P10071	p.Pro394Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42026260G>A	NCI-TCGA
GLI3	P10071	p.Gly395Glu	rs1345463284	missense variant	-	NC_000007.14:g.42026257C>T	gnomAD
GLI3	P10071	p.Gly395Glu	RCV000706595	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42026257C>T	ClinVar
GLI3	P10071	p.Thr398Lys	rs529978440	missense variant	-	NC_000007.14:g.42026248G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr398Met	rs529978440	missense variant	-	NC_000007.14:g.42026248G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr398Ala	rs1231416072	missense variant	-	NC_000007.14:g.42026249T>C	gnomAD
GLI3	P10071	p.Thr398Ter	RCV000598716	frameshift	-	NC_000007.14:g.42026238_42026253del	ClinVar
GLI3	P10071	p.Val399Leu	rs750699810	missense variant	-	NC_000007.14:g.42026246C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val399Ile	rs750699810	missense variant	-	NC_000007.14:g.42026246C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro402Ala	rs375510848	missense variant	-	NC_000007.14:g.42026237G>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val403Ile	rs201070431	missense variant	-	NC_000007.14:g.42026234C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val403Phe	rs201070431	missense variant	-	NC_000007.14:g.42026234C>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val403Ile	RCV000193696	missense variant	-	NC_000007.14:g.42026234C>T	ClinVar
GLI3	P10071	p.Val405Ile	COSM3881024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42026228C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Gly408Ser	rs200411081	missense variant	-	NC_000007.14:g.42026219C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly408Ala	rs1178764177	missense variant	-	NC_000007.14:g.42026218C>G	gnomAD
GLI3	P10071	p.Gly408Arg	rs200411081	missense variant	-	NC_000007.14:g.42026219C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu411Lys	rs777372793	missense variant	-	NC_000007.14:g.42026210C>T	ExAC,gnomAD
GLI3	P10071	p.Ser412Pro	rs946022697	missense variant	-	NC_000007.14:g.42026207A>G	gnomAD
GLI3	P10071	p.Ser412Ala	rs946022697	missense variant	-	NC_000007.14:g.42026207A>C	gnomAD
GLI3	P10071	p.Asn415Lys	rs572105197	missense variant	-	NC_000007.14:g.42025375G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro417Arg	rs41311641	missense variant	-	NC_000007.14:g.42025370G>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro417His	rs41311641	missense variant	-	NC_000007.14:g.42025370G>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr418Met	rs757359712	missense variant	-	NC_000007.14:g.42025367G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr418Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42025367G>C	NCI-TCGA
GLI3	P10071	p.Ser419Asn	rs1415826109	missense variant	-	NC_000007.14:g.42025364C>T	gnomAD
GLI3	P10071	p.Ser421Pro	rs1185717910	missense variant	-	NC_000007.14:g.42025359A>G	TOPMed,gnomAD
GLI3	P10071	p.Ala422Ser	rs764322751	missense variant	-	NC_000007.14:g.42025356C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala422Val	rs1166516711	missense variant	-	NC_000007.14:g.42025355G>A	gnomAD
GLI3	P10071	p.Gly427Cys	rs1287184671	missense variant	-	NC_000007.14:g.42025341C>A	TOPMed
GLI3	P10071	p.Asp428Glu	rs1196110158	missense variant	-	NC_000007.14:g.42025336G>T	TOPMed,gnomAD
GLI3	P10071	p.Pro429Leu	rs758757750	missense variant	-	NC_000007.14:g.42025334G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met430Thr	rs368631612	missense variant	-	NC_000007.14:g.42025331A>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn432Ser	rs1288284840	missense variant	-	NC_000007.14:g.42025325T>C	gnomAD
GLI3	P10071	p.Asn432Tyr	rs1323609703	missense variant	-	NC_000007.14:g.42025326T>A	gnomAD
GLI3	P10071	p.Ser435Tyr	rs1233279162	missense variant	-	NC_000007.14:g.42025316G>T	gnomAD
GLI3	P10071	p.Ile437Thr	rs374213542	missense variant	-	NC_000007.14:g.42025310A>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp440Asn	rs145479568	missense variant	-	NC_000007.14:g.42025302C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp440Glu	VAR_010052	Missense	-	-	UniProt
GLI3	P10071	p.Glu441Ala	rs774086935	missense variant	-	NC_000007.14:g.42025298T>G	ExAC,gnomAD
GLI3	P10071	p.Glu441Lys	rs1287956678	missense variant	-	NC_000007.14:g.42025299C>T	gnomAD
GLI3	P10071	p.Asp442Glu	rs1456334865	missense variant	-	NC_000007.14:g.42025294G>C	TOPMed
GLI3	P10071	p.Asp442Tyr	rs768236231	missense variant	-	NC_000007.14:g.42025296C>A	ExAC,gnomAD
GLI3	P10071	p.Asp442Gly	rs749073077	missense variant	-	NC_000007.14:g.42025295T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro444Thr	rs1162546619	missense variant	-	NC_000007.14:g.42025290G>T	TOPMed
GLI3	P10071	p.Pro446Leu	rs1424032185	missense variant	-	NC_000007.14:g.42025283G>A	gnomAD
GLI3	P10071	p.Pro446Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42025283G>T	NCI-TCGA
GLI3	P10071	p.Pro446Ser	COSM453050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42025284G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Gly447Arg	rs775487390	missense variant	-	NC_000007.14:g.42025281C>G	ExAC,gnomAD
GLI3	P10071	p.Ala448Val	rs912576738	missense variant	-	NC_000007.14:g.42025277G>A	TOPMed,gnomAD
GLI3	P10071	p.Ala448Val	RCV000608659	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42025277G>A	ClinVar
GLI3	P10071	p.Arg449Pro	rs745809543	missense variant	-	NC_000007.14:g.42025274C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg449Trp	rs769783770	missense variant	-	NC_000007.14:g.42025275G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg449Gln	rs745809543	missense variant	-	NC_000007.14:g.42025274C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg449Pro	RCV000271583	missense variant	-	NC_000007.14:g.42025274C>G	ClinVar
GLI3	P10071	p.Gly450Trp	rs747097723	missense variant	-	NC_000007.14:g.42025272C>A	ExAC,gnomAD
GLI3	P10071	p.Gly450Arg	rs747097723	missense variant	-	NC_000007.14:g.42025272C>T	ExAC,gnomAD
GLI3	P10071	p.Gly450Glu	rs778032213	missense variant	-	NC_000007.14:g.42025271C>T	ExAC,gnomAD
GLI3	P10071	p.Gln451His	rs1217142786	missense variant	-	NC_000007.14:g.42025267C>G	gnomAD
GLI3	P10071	p.Gln451Leu	rs1260577104	missense variant	-	NC_000007.14:g.42025268T>A	gnomAD
GLI3	P10071	p.Gln451SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.42025270C>-	NCI-TCGA
GLI3	P10071	p.Glu453Gly	rs762641481	missense variant	-	NC_000007.14:g.42023607T>C	ExAC,gnomAD
GLI3	P10071	p.Gln454Leu	rs765020464	missense variant	-	NC_000007.14:g.42023604T>A	ExAC,gnomAD
GLI3	P10071	p.Gln454Lys	rs752427363	missense variant	-	NC_000007.14:g.42023605G>T	ExAC,gnomAD
GLI3	P10071	p.Gln454Arg	rs765020464	missense variant	-	NC_000007.14:g.42023604T>C	ExAC,gnomAD
GLI3	P10071	p.Glu456Lys	rs200230864	missense variant	-	NC_000007.14:g.42023599C>T	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Thr459Ala	rs760534428	missense variant	-	NC_000007.14:g.42023590T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr459Asn	rs1257273468	missense variant	-	NC_000007.14:g.42023589G>T	gnomAD
GLI3	P10071	p.Val461Phe	rs1277662383	missense variant	-	NC_000007.14:g.42023584C>A	gnomAD
GLI3	P10071	p.Val461Ala	rs773285140	missense variant	-	NC_000007.14:g.42023583A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Lys462Glu	rs772162441	missense variant	-	NC_000007.14:g.42023581T>C	ExAC,gnomAD
GLI3	P10071	p.Gly465Arg	rs35488756	missense variant	-	NC_000007.14:g.42023572C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly465Arg	RCV000251377	missense variant	-	NC_000007.14:g.42023572C>G	ClinVar
GLI3	P10071	p.Gly465Arg	RCV000548022	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42023572C>G	ClinVar
GLI3	P10071	p.Asp466Gly	COSM6177870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42023568T>C	NCI-TCGA Cosmic
GLI3	P10071	p.Lys467Asn	rs147643380	missense variant	-	NC_000007.14:g.42023564T>A	ESP,TOPMed,gnomAD
GLI3	P10071	p.Lys467Gln	rs1335049495	missense variant	-	NC_000007.14:g.42023566T>G	gnomAD
GLI3	P10071	p.Lys467Asn	COSM1450733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42023564T>G	NCI-TCGA Cosmic
GLI3	P10071	p.Asp468Gly	rs768918002	missense variant	-	NC_000007.14:g.42023562T>C	ExAC,gnomAD
GLI3	P10071	p.Gln472Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42023550T>C	NCI-TCGA
GLI3	P10071	p.Glu473Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42023546C>A	NCI-TCGA
GLI3	P10071	p.Glu475Gln	rs749654343	missense variant	-	NC_000007.14:g.42023542C>G	ExAC,gnomAD
GLI3	P10071	p.Val476Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42023539C>T	NCI-TCGA
GLI3	P10071	p.Tyr478Cys	rs1312485546	missense variant	-	NC_000007.14:g.42023532T>C	gnomAD
GLI3	P10071	p.Thr480Ala	rs1278562713	missense variant	-	NC_000007.14:g.42023527T>C	TOPMed
GLI3	P10071	p.His483Arg	rs1420612792	missense variant	-	NC_000007.14:g.42023517T>C	gnomAD
GLI3	P10071	p.Trp484Ter	rs1554314595	stop gained	-	NC_000007.14:g.42023513C>T	-
GLI3	P10071	p.Trp484Ter	RCV000701080	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42023514C>T	ClinVar
GLI3	P10071	p.Trp484Ter	RCV000599260	nonsense	-	NC_000007.14:g.42023513C>T	ClinVar
GLI3	P10071	p.Gly486Ala	rs780353272	missense variant	-	NC_000007.14:g.42023508C>G	ExAC,gnomAD
GLI3	P10071	p.Ala488Val	rs750911975	missense variant	-	NC_000007.14:g.42023502G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala488Gly	rs750911975	missense variant	-	NC_000007.14:g.42023502G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala488Thr	RCV000297459	missense variant	Polydactyly	NC_000007.14:g.42023503C>T	ClinVar
GLI3	P10071	p.Ala488Thr	rs756581886	missense variant	-	NC_000007.14:g.42023503C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala488Ser	rs756581886	missense variant	-	NC_000007.14:g.42023503C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala488Thr	RCV000340635	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42023503C>T	ClinVar
GLI3	P10071	p.Ala488Thr	RCV000399556	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.42023503C>T	ClinVar
GLI3	P10071	p.Arg489Lys	rs757946644	missense variant	-	NC_000007.14:g.42023499C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg489Trp	COSM746898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.42023500T>A	NCI-TCGA Cosmic
GLI3	P10071	p.Glu490Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.42023496T>C	NCI-TCGA
GLI3	P10071	p.Phe491Leu	rs145184527	missense variant	-	NC_000007.14:g.42023494A>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp492His	rs886320788	missense variant	-	NC_000007.14:g.42023491C>G	TOPMed,gnomAD
GLI3	P10071	p.Asp492Asn	rs886320788	missense variant	-	NC_000007.14:g.42023491C>T	TOPMed,gnomAD
GLI3	P10071	p.Asp492Asn	RCV000634033	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42023491C>T	ClinVar
GLI3	P10071	p.Thr493Ile	rs1202816200	missense variant	-	NC_000007.14:g.42023487G>A	gnomAD
GLI3	P10071	p.Gln496Ter	RCV000014842	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.42023479G>A	ClinVar
GLI3	P10071	p.Gln496Ter	rs121917715	stop gained	Greig cephalopolysyndactyly syndrome (gcps)	NC_000007.14:g.42023479G>A	-
GLI3	P10071	p.Leu497Ter	RCV000486221	frameshift	-	NC_000007.14:g.42023478_42023503dup	ClinVar
GLI3	P10071	p.His499Gln	rs539144173	missense variant	-	NC_000007.14:g.42023468G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile501Val	rs766158252	missense variant	-	NC_000007.14:g.41978745T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn502Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41978742T>A	NCI-TCGA
GLI3	P10071	p.Asn503Lys	rs34020684	missense variant	-	NC_000007.14:g.41978737G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile506Thr	rs1398132931	missense variant	-	NC_000007.14:g.41978729A>G	TOPMed
GLI3	P10071	p.His507Arg	rs1001640743	missense variant	-	NC_000007.14:g.41978726T>C	TOPMed
GLI3	P10071	p.Glu509Gln	rs761808583	missense variant	-	NC_000007.14:g.41978721C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu509Lys	rs761808583	missense variant	-	NC_000007.14:g.41978721C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu512Gln	rs1379804968	missense variant	-	NC_000007.14:g.41978712C>G	TOPMed
GLI3	P10071	p.Phe513LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41978692_41978707CAGCCACCTGCACACG>-	NCI-TCGA
GLI3	P10071	p.Val514Met	rs148502119	missense variant	-	NC_000007.14:g.41978706C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Cys515Gly	VAR_010053	Missense	Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]	-	UniProt
GLI3	P10071	p.Leu518Gln	rs746202667	missense variant	-	NC_000007.14:g.41978693A>T	ExAC,gnomAD
GLI3	P10071	p.Asp519Tyr	rs777201681	missense variant	-	NC_000007.14:g.41978691C>A	ExAC
GLI3	P10071	p.Cys520Tyr	VAR_010054	Missense	Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]	-	UniProt
GLI3	P10071	p.Ser521Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41978684G>T	NCI-TCGA
GLI3	P10071	p.Glu523Ter	COSM1450732	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41978679C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro526Ser	rs1195424687	missense variant	-	NC_000007.14:g.41978670G>A	gnomAD
GLI3	P10071	p.Phe527Ter	RCV000479622	frameshift	-	NC_000007.14:g.41978670del	ClinVar
GLI3	P10071	p.Tyr531His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41978655A>G	NCI-TCGA
GLI3	P10071	p.Met532Val	rs1385312144	missense variant	-	NC_000007.14:g.41978652T>C	TOPMed,gnomAD
GLI3	P10071	p.Val534Ala	rs1418270731	missense variant	-	NC_000007.14:g.41978645A>G	gnomAD
GLI3	P10071	p.Val535Ala	rs549330536	missense variant	-	NC_000007.14:g.41978642A>G	1000Genomes,gnomAD
GLI3	P10071	p.Arg538Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41978633C>T	NCI-TCGA
GLI3	P10071	p.Arg539Ter	RCV000032707	frameshift	Postaxial polydactyly, type A1/B	NC_000007.14:g.41978630_41978631del	ClinVar
GLI3	P10071	p.His540Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41978628G>T	NCI-TCGA
GLI3	P10071	p.His540Gln	COSM3832782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41978626G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Glu543Ter	RCV000014833	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41978619C>A	ClinVar
GLI3	P10071	p.Glu543Ter	rs121917711	stop gained	Greig cephalopolysyndactyly syndrome (gcps)	NC_000007.14:g.41978619C>A	-
GLI3	P10071	p.His546Gln	rs1475828954	missense variant	-	NC_000007.14:g.41978608G>T	TOPMed
GLI3	P10071	p.Gly552Ala	rs144663011	missense variant	-	NC_000007.14:g.41977715C>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly552Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41977716C>A	NCI-TCGA
GLI3	P10071	p.Thr554Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41977709G>A	NCI-TCGA
GLI3	P10071	p.Lys555Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41977705C>A	NCI-TCGA
GLI3	P10071	p.Ser558Leu	rs1356013382	missense variant	-	NC_000007.14:g.41977697G>A	TOPMed
GLI3	P10071	p.Ser558Trp	COSM4636155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41977697G>C	NCI-TCGA Cosmic
GLI3	P10071	p.Arg559Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41977694C>T	NCI-TCGA
GLI3	P10071	p.Leu563Trp	rs376515341	missense variant	-	NC_000007.14:g.41977682A>C	ESP,ExAC,gnomAD
GLI3	P10071	p.His566Ter	RCV000255594	frameshift	-	NC_000007.14:g.41977673del	ClinVar
GLI3	P10071	p.Leu567Val	rs1354390127	missense variant	-	NC_000007.14:g.41977671A>C	gnomAD
GLI3	P10071	p.Leu567Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41977669C>G	NCI-TCGA
GLI3	P10071	p.Ser569Tyr	rs201268608	missense variant	-	NC_000007.14:g.41977664G>T	1000Genomes
GLI3	P10071	p.Gly572Ter	rs188084588	stop gained	-	NC_000007.14:g.41977656C>A	1000Genomes
GLI3	P10071	p.Glu573Asp	COSM1089671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41977651C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Val577Leu	rs754144566	missense variant	-	NC_000007.14:g.41977641C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val577Ile	rs754144566	missense variant	-	NC_000007.14:g.41977641C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu581Lys	rs761100643	missense variant	-	NC_000007.14:g.41977629C>T	ExAC,gnomAD
GLI3	P10071	p.Ala586Pro	rs773772130	missense variant	-	NC_000007.14:g.41977614C>G	ExAC,gnomAD
GLI3	P10071	p.Ser588Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41977607G>C	NCI-TCGA
GLI3	P10071	p.Ser588Leu	COSM3832781	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41977607G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Asn589Ser	rs1419735509	missense variant	-	NC_000007.14:g.41977604T>C	gnomAD
GLI3	P10071	p.Ala590Ser	COSM4935352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41977602C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Arg593Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41977593G>A	NCI-TCGA
GLI3	P10071	p.Gln597Lys	rs762389170	missense variant	-	NC_000007.14:g.41977581G>T	ExAC,gnomAD
GLI3	P10071	p.Asn598Thr	rs774808066	missense variant	-	NC_000007.14:g.41977577T>G	ExAC,gnomAD
GLI3	P10071	p.Ser602Cys	rs1486078209	missense variant	-	NC_000007.14:g.41977565G>C	TOPMed
GLI3	P10071	p.Ser602Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41977565G>A	NCI-TCGA
GLI3	P10071	p.Asn603Ser	rs1190159366	missense variant	-	NC_000007.14:g.41977562T>C	TOPMed
GLI3	P10071	p.Asn603His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41977563T>G	NCI-TCGA
GLI3	P10071	p.Pro606Leu	rs1213688768	missense variant	-	NC_000007.14:g.41972623G>A	gnomAD
GLI3	P10071	p.Pro606Ser	COSM3638707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41972624G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Val608Met	rs767980267	missense variant	-	NC_000007.14:g.41972618C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro612Ser	rs762200152	missense variant	-	NC_000007.14:g.41972606G>A	ExAC,gnomAD
GLI3	P10071	p.Gly613Ala	rs774958576	missense variant	-	NC_000007.14:g.41972602C>G	ExAC,gnomAD
GLI3	P10071	p.Cys614Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41972599C>A	NCI-TCGA
GLI3	P10071	p.Thr615Ala	rs200913720	missense variant	-	NC_000007.14:g.41972597T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr615Ser	rs200913720	missense variant	-	NC_000007.14:g.41972597T>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr615Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41972596G>C	NCI-TCGA
GLI3	P10071	p.Thr615Ile	rs1372552953	missense variant	-	NC_000007.14:g.41972596G>A	gnomAD
GLI3	P10071	p.Thr615Ser	RCV000306077	missense variant	Polydactyly	NC_000007.14:g.41972597T>A	ClinVar
GLI3	P10071	p.Thr615Ser	RCV000358471	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41972597T>A	ClinVar
GLI3	P10071	p.Thr615Ser	RCV000406810	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972597T>A	ClinVar
GLI3	P10071	p.Arg617Cys	rs532044840	missense variant	-	NC_000007.14:g.41972591G>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Arg617His	rs746723412	missense variant	-	NC_000007.14:g.41972590C>T	ExAC,gnomAD
GLI3	P10071	p.Tyr618His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41972588A>G	NCI-TCGA
GLI3	P10071	p.Asp620Asn	rs1460294005	missense variant	-	NC_000007.14:g.41972582C>T	gnomAD
GLI3	P10071	p.Leu624Ile	COSM3881020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41972570G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Arg625Gln	rs1554306094	missense variant	-	NC_000007.14:g.41972566C>T	-
GLI3	P10071	p.Arg625Trp	rs121917712	missense variant	Greig cephalo-poly-syndactyly syndrome (GCPS)	NC_000007.14:g.41972567G>A	UniProt,dbSNP
GLI3	P10071	p.Arg625Trp	VAR_021481	missense variant	Greig cephalo-poly-syndactyly syndrome (GCPS)	NC_000007.14:g.41972567G>A	UniProt
GLI3	P10071	p.Arg625Trp	rs121917712	missense variant	Greig cephalopolysyndactyly syndrome (gcps)	NC_000007.14:g.41972567G>A	-
GLI3	P10071	p.Arg625Trp	RCV000014835	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41972567G>A	ClinVar
GLI3	P10071	p.Arg625Gln	RCV000634035	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41972566C>T	ClinVar
GLI3	P10071	p.Lys626Ter	RCV000549394	frameshift	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41972564del	ClinVar
GLI3	P10071	p.Thr630Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41972552T>C	NCI-TCGA
GLI3	P10071	p.Gly633Ser	rs1372533089	missense variant	-	NC_000007.14:g.41972543C>T	gnomAD
GLI3	P10071	p.Gly633Val	COSM3881019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41972542C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro634Leu	rs1036446107	missense variant	-	NC_000007.14:g.41972539G>A	TOPMed
GLI3	P10071	p.His637Tyr	rs371617666	missense variant	-	NC_000007.14:g.41972531G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.His637Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41972530T>C	NCI-TCGA
GLI3	P10071	p.Arg643Ter	rs121917709	stop gained	-	NC_000007.14:g.41972513G>A	-
GLI3	P10071	p.Arg643Ter	RCV000014831	nonsense	Postaxial polydactyly, type A1/B	NC_000007.14:g.41972513G>A	ClinVar
GLI3	P10071	p.Arg643Ter	RCV000850085	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972513G>A	ClinVar
GLI3	P10071	p.Gly644Glu	rs780346422	missense variant	-	NC_000007.14:g.41972509C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp645Tyr	rs750703042	missense variant	-	NC_000007.14:g.41972507C>A	ExAC,gnomAD
GLI3	P10071	p.Ile646Thr	rs1273389250	missense variant	-	NC_000007.14:g.41972503A>G	gnomAD
GLI3	P10071	p.Ile646Met	rs767739019	missense variant	-	NC_000007.14:g.41972502G>C	ExAC,gnomAD
GLI3	P10071	p.His647Tyr	rs1349413059	missense variant	-	NC_000007.14:g.41972501G>A	gnomAD
GLI3	P10071	p.Arg649Trp	rs757597719	missense variant	-	NC_000007.14:g.41972495G>A	ExAC,gnomAD
GLI3	P10071	p.Arg649Gln	rs1233442338	missense variant	-	NC_000007.14:g.41972494C>T	gnomAD
GLI3	P10071	p.Pro650Leu	rs751886644	missense variant	-	NC_000007.14:g.41972491G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro651Gln	COSM6177871	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41972488G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Pro652Leu	rs776107503	missense variant	-	NC_000007.14:g.41972485G>A	ExAC,gnomAD
GLI3	P10071	p.Pro652Thr	rs552333286	missense variant	-	NC_000007.14:g.41972486G>T	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Pro653Arg	rs141220299	missense variant	-	NC_000007.14:g.41972482G>C	ESP,ExAC,gnomAD
GLI3	P10071	p.Pro653Leu	rs141220299	missense variant	-	NC_000007.14:g.41972482G>A	ESP,ExAC,gnomAD
GLI3	P10071	p.Pro653Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41972482G>T	NCI-TCGA
GLI3	P10071	p.Pro653Leu	RCV000294462	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972482G>A	ClinVar
GLI3	P10071	p.Pro653Leu	RCV000398955	missense variant	Polydactyly	NC_000007.14:g.41972482G>A	ClinVar
GLI3	P10071	p.Pro653Leu	RCV000346998	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41972482G>A	ClinVar
GLI3	P10071	p.Arg654Thr	rs1373686470	missense variant	-	NC_000007.14:g.41972479C>G	gnomAD
GLI3	P10071	p.Asp655Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41972477C>A	NCI-TCGA
GLI3	P10071	p.Gly657Ser	rs377579354	missense variant	-	NC_000007.14:g.41972471C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly657Ser	RCV000428276	missense variant	-	NC_000007.14:g.41972471C>T	ClinVar
GLI3	P10071	p.Ser658Arg	rs747918141	missense variant	-	NC_000007.14:g.41972468T>G	ExAC,gnomAD
GLI3	P10071	p.Gln661His	rs564000094	missense variant	-	NC_000007.14:g.41972457C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg663Ser	rs1418847530	missense variant	-	NC_000007.14:g.41972451C>A	gnomAD
GLI3	P10071	p.Ser664Leu	rs780256503	missense variant	-	NC_000007.14:g.41972449G>A	ExAC,gnomAD
GLI3	P10071	p.Gly666Ser	rs745961065	missense variant	-	NC_000007.14:g.41972444C>T	ExAC,gnomAD
GLI3	P10071	p.Arg667Ter	rs781422192	stop gained	-	NC_000007.14:g.41972441G>A	ExAC,gnomAD
GLI3	P10071	p.Arg667Gln	rs373926115	missense variant	-	NC_000007.14:g.41972440C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg667Leu	rs373926115	missense variant	-	NC_000007.14:g.41972440C>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg667Leu	RCV000416503	missense variant	Global developmental delay (DD)	NC_000007.14:g.41972440C>A	ClinVar
GLI3	P10071	p.Pro668Leu	rs143009880	missense variant	-	NC_000007.14:g.41972437G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro668Ter	RCV000031860	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972435_41972438TCGG[1]	ClinVar
GLI3	P10071	p.Thr669Ile	rs139108417	missense variant	-	NC_000007.14:g.41972434G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr669Pro	rs758883352	missense variant	-	NC_000007.14:g.41972435T>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr669Ile	RCV000438090	missense variant	-	NC_000007.14:g.41972434G>A	ClinVar
GLI3	P10071	p.Gln670Glu	COSM74761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41972432G>C	NCI-TCGA Cosmic
GLI3	P10071	p.Gly671Ter	RCV000014826	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972430del	ClinVar
GLI3	P10071	p.Glu675Ter	RCV000014825	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972417del	ClinVar
GLI3	P10071	p.Gln677His	COSM1089665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41972409C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Asp678Tyr	RCV000594418	missense variant	-	NC_000007.14:g.41972408C>A	ClinVar
GLI3	P10071	p.Asp678Tyr	rs1554306039	missense variant	-	NC_000007.14:g.41972408C>A	-
GLI3	P10071	p.Asp678Glu	rs1386120169	missense variant	-	NC_000007.14:g.41972406G>C	TOPMed
GLI3	P10071	p.Asp678Ter	RCV000031861	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972409del	ClinVar
GLI3	P10071	p.Ser680Asn	rs1339003460	missense variant	-	NC_000007.14:g.41972401C>T	TOPMed,gnomAD
GLI3	P10071	p.Ser680Arg	rs1331496312	missense variant	-	NC_000007.14:g.41972400G>T	TOPMed,gnomAD
GLI3	P10071	p.Asn681Asp	rs1293732858	missense variant	-	NC_000007.14:g.41972399T>C	gnomAD
GLI3	P10071	p.Thr682Ile	rs749914553	missense variant	-	NC_000007.14:g.41972395G>A	ExAC,gnomAD
GLI3	P10071	p.Thr682Ser	rs749914553	missense variant	-	NC_000007.14:g.41972395G>C	ExAC,gnomAD
GLI3	P10071	p.Thr682Ala	rs760184006	missense variant	-	NC_000007.14:g.41972396T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr683Ile	rs979364849	missense variant	-	NC_000007.14:g.41972392G>A	TOPMed
GLI3	P10071	p.Ser684Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41972390A>G	NCI-TCGA
GLI3	P10071	p.Ser684Leu	COSM4833326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41972389G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Lys685Met	rs774272701	missense variant	-	NC_000007.14:g.41972386T>A	ExAC,gnomAD
GLI3	P10071	p.Lys685Ter	rs761437755	stop gained	-	NC_000007.14:g.41972387T>A	ExAC,gnomAD
GLI3	P10071	p.Arg686Gln	rs762948718	missense variant	-	NC_000007.14:g.41972383C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg686Trp	rs138199980	missense variant	-	NC_000007.14:g.41972384G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.ArgGlu686ArgTer	rs116840746	stop gained	-	NC_000007.14:g.41972381_41972382delinsAT	-
GLI3	P10071	p.Glu687Ter	RCV000031862	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972381_41972382delinsAT	ClinVar
GLI3	P10071	p.Glu688Ter	rs116840747	stop gained	-	NC_000007.14:g.41972378C>A	-
GLI3	P10071	p.Glu688Ter	RCV000031863	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972378C>A	ClinVar
GLI3	P10071	p.Gln691Ter	rs1554306031	stop gained	-	NC_000007.14:g.41972369G>A	-
GLI3	P10071	p.Gln691Arg	rs775524282	missense variant	-	NC_000007.14:g.41972368T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln691His	rs199653814	missense variant	-	NC_000007.14:g.41972367C>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Gln691Ter	RCV000498734	nonsense	-	NC_000007.14:g.41972369G>A	ClinVar
GLI3	P10071	p.Val695Phe	rs199606102	missense variant	-	NC_000007.14:g.41972357C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val695Ile	rs199606102	missense variant	-	NC_000007.14:g.41972357C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val695Ile	RCV000263729	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41972357C>T	ClinVar
GLI3	P10071	p.Val695Ile	RCV000316559	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41972357C>T	ClinVar
GLI3	P10071	p.Val695Ile	RCV000373507	missense variant	Polydactyly	NC_000007.14:g.41972357C>T	ClinVar
GLI3	P10071	p.Lys696Gln	rs532129441	missense variant	-	NC_000007.14:g.41972354T>G	ExAC,gnomAD
GLI3	P10071	p.Ala697Val	rs1460224426	missense variant	-	NC_000007.14:g.41972350G>A	TOPMed
GLI3	P10071	p.Ala697Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41972350G>T	NCI-TCGA
GLI3	P10071	p.Glu698Gly	rs1203290603	missense variant	-	NC_000007.14:g.41972347T>C	gnomAD
GLI3	P10071	p.Pro700Leu	rs1243908163	missense variant	-	NC_000007.14:g.41972341G>A	TOPMed
GLI3	P10071	p.Met701Val	rs758722364	missense variant	-	NC_000007.14:g.41972339T>C	ExAC,gnomAD
GLI3	P10071	p.Met701Ile	COSM3638704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41972337C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ser703Pro	COSM1089663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967920A>G	NCI-TCGA Cosmic
GLI3	P10071	p.Gln704Ter	rs116840748	stop gained	-	NC_000007.14:g.41967917G>A	-
GLI3	P10071	p.Gln704Pro	rs770958899	missense variant	-	NC_000007.14:g.41967916T>G	ExAC,gnomAD
GLI3	P10071	p.Gln704Ter	RCV000031864	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967917G>A	ClinVar
GLI3	P10071	p.Gln704His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967915C>G	NCI-TCGA
GLI3	P10071	p.Ser706Asn	rs1371832924	missense variant	-	NC_000007.14:g.41967910C>T	gnomAD
GLI3	P10071	p.Ser706Cys	COSM3881017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967911T>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro707Ser	rs121917716	missense variant	Greig cephalo-poly-syndactyly syndrome (GCPS)	NC_000007.14:g.41967908G>A	UniProt,dbSNP
GLI3	P10071	p.Pro707Ser	VAR_010055	missense variant	Greig cephalo-poly-syndactyly syndrome (GCPS)	NC_000007.14:g.41967908G>A	UniProt
GLI3	P10071	p.Pro707Ser	rs121917716	missense variant	Greig cephalopolysyndactyly syndrome (gcps)	NC_000007.14:g.41967908G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro707Ser	RCV000500441	missense variant	-	NC_000007.14:g.41967908G>A	ClinVar
GLI3	P10071	p.Pro707Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967907G>C	NCI-TCGA
GLI3	P10071	p.Pro707Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967908G>T	NCI-TCGA
GLI3	P10071	p.Pro707Ser	RCV000542657	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41967908G>A	ClinVar
GLI3	P10071	p.Gln710His	rs772295341	missense variant	-	NC_000007.14:g.41967897C>A	ExAC,gnomAD
GLI3	P10071	p.Ser712Ter	RCV000031865	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967888del	ClinVar
GLI3	P10071	p.Ser714Ile	COSM3881016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967886C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ser715Asn	rs748444497	missense variant	-	NC_000007.14:g.41967883C>T	ExAC,gnomAD
GLI3	P10071	p.Ser715Ile	COSM746901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967883C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Gln716Ter	rs116840750	stop gained	-	NC_000007.14:g.41967881G>A	-
GLI3	P10071	p.Gln716Ter	RCV000031866	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967881G>A	ClinVar
GLI3	P10071	p.Gln717Ter	rs116840751	stop gained	-	NC_000007.14:g.41967878G>A	-
GLI3	P10071	p.Gln717Ter	RCV000031867	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967878G>A	ClinVar
GLI3	P10071	p.Ile720Ser	rs1329906068	missense variant	-	NC_000007.14:g.41967868A>C	TOPMed,gnomAD
GLI3	P10071	p.Ile720Ter	RCV000031868	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967874del	ClinVar
GLI3	P10071	p.Asn722Ser	RCV000253835	missense variant	-	NC_000007.14:g.41967862T>C	ClinVar
GLI3	P10071	p.Asn722Ser	rs146130351	missense variant	-	NC_000007.14:g.41967862T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn725Thr	rs749807129	missense variant	-	NC_000007.14:g.41967853T>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn725Ter	RCV000031869	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967856dup	ClinVar
GLI3	P10071	p.Asn725Lys	COSM6177872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967852G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ser726Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967850C>T	NCI-TCGA
GLI3	P10071	p.Gly727Arg	rs121917710	missense variant	-	NC_000007.14:g.41967848C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly727Arg	RCV000525517	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41967848C>T	ClinVar
GLI3	P10071	p.Gly727Arg	rs121917710	missense variant	Polydactyly, postaxial B (PAPB)	NC_000007.14:g.41967848C>T	UniProt,dbSNP
GLI3	P10071	p.Gly727Arg	VAR_009876	missense variant	Polydactyly, postaxial B (PAPB)	NC_000007.14:g.41967848C>T	UniProt
GLI3	P10071	p.Gly727Arg	RCV000514884	missense variant	-	NC_000007.14:g.41967848C>T	ClinVar
GLI3	P10071	p.Leu728Val	rs756678135	missense variant	-	NC_000007.14:g.41967845G>C	ExAC,gnomAD
GLI3	P10071	p.Leu728Phe	COSM3229960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967845G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Glu729Lys	rs763777252	missense variant	-	NC_000007.14:g.41967842C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu730Ter	RCV000014841	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967824_41967842del	ClinVar
GLI3	P10071	p.Leu730Pro	rs375779498	missense variant	-	NC_000007.14:g.41967838A>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro731Thr	rs752529841	missense variant	-	NC_000007.14:g.41967836G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro731Ser	COSM1450727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967836G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro731Ala	rs752529841	missense variant	-	NC_000007.14:g.41967836G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr733Ter	RCV000031870	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967829_41967830del	ClinVar
GLI3	P10071	p.Asp734Asn	rs140479817	missense variant	-	NC_000007.14:g.41967827C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp734Tyr	rs140479817	missense variant	-	NC_000007.14:g.41967827C>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp734Asn	RCV000361427	missense variant	-	NC_000007.14:g.41967827C>T	ClinVar
GLI3	P10071	p.Gly735Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967823C>A	NCI-TCGA
GLI3	P10071	p.Ser737Asn	rs1045631679	missense variant	-	NC_000007.14:g.41967817C>T	TOPMed,gnomAD
GLI3	P10071	p.Ile738Val	rs1282627104	missense variant	-	NC_000007.14:g.41967815T>C	gnomAD
GLI3	P10071	p.Ile738Thr	rs1232212483	missense variant	-	NC_000007.14:g.41967814A>G	gnomAD
GLI3	P10071	p.Asp740Glu	rs1344881481	missense variant	-	NC_000007.14:g.41967807G>T	gnomAD
GLI3	P10071	p.Leu741His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967805A>T	NCI-TCGA
GLI3	P10071	p.Ser742Ile	rs766362972	missense variant	-	NC_000007.14:g.41967802C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser742Thr	rs766362972	missense variant	-	NC_000007.14:g.41967802C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala743Val	rs760690136	missense variant	-	NC_000007.14:g.41967799G>A	ExAC,gnomAD
GLI3	P10071	p.Ile744Met	rs772276953	missense variant	-	NC_000007.14:g.41967795G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp745Glu	rs1240163671	missense variant	-	NC_000007.14:g.41967792A>C	gnomAD
GLI3	P10071	p.Asp745Asn	rs142249104	missense variant	-	NC_000007.14:g.41967794C>T	ESP,ExAC,gnomAD
GLI3	P10071	p.Glu746Asp	rs371971414	missense variant	-	NC_000007.14:g.41967789T>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu746Lys	COSM3778436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967791C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ile749Val	rs140048578	missense variant	-	NC_000007.14:g.41967782T>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile749Leu	rs140048578	missense variant	-	NC_000007.14:g.41967782T>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile749Val	RCV000814882	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41967782T>C	ClinVar
GLI3	P10071	p.Ile749Val	RCV000725555	missense variant	-	NC_000007.14:g.41967782T>C	ClinVar
GLI3	P10071	p.Met750Thr	rs780371802	missense variant	-	NC_000007.14:g.41967778A>G	ExAC,gnomAD
GLI3	P10071	p.Met750Val	rs749691334	missense variant	-	NC_000007.14:g.41967779T>C	ExAC,gnomAD
GLI3	P10071	p.Asp751Ter	RCV000415028	frameshift	Postaxial polydactyly type A1 (PAPA1)	NC_000007.14:g.41967775del	ClinVar
GLI3	P10071	p.Ser752Leu	COSM1450726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967772G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Thr753Ala	rs756698197	missense variant	-	NC_000007.14:g.41967770T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile754Val	rs746517704	missense variant	-	NC_000007.14:g.41967767T>C	ExAC,gnomAD
GLI3	P10071	p.Leu763Ser	rs758103882	missense variant	-	NC_000007.14:g.41967739A>G	ExAC,gnomAD
GLI3	P10071	p.Gln764Arg	rs369643572	missense variant	-	NC_000007.14:g.41967736T>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln764Pro	rs369643572	missense variant	-	NC_000007.14:g.41967736T>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln764Lys	rs144545100	missense variant	-	NC_000007.14:g.41967737G>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln764His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967735T>A	NCI-TCGA
GLI3	P10071	p.Ala765Ser	rs1226046449	missense variant	-	NC_000007.14:g.41967734C>A	gnomAD
GLI3	P10071	p.Asn768His	rs1348941856	missense variant	-	NC_000007.14:g.41967725T>G	gnomAD
GLI3	P10071	p.Pro769Arg	rs139672999	missense variant	-	NC_000007.14:g.41967721G>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro769Thr	rs1325519136	missense variant	-	NC_000007.14:g.41967722G>T	gnomAD
GLI3	P10071	p.Pro769Leu	rs139672999	missense variant	-	NC_000007.14:g.41967721G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro769Leu	RCV000530281	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41967721G>A	ClinVar
GLI3	P10071	p.Ala770Val	rs144772281	missense variant	-	NC_000007.14:g.41967718G>A	ESP,ExAC,gnomAD
GLI3	P10071	p.Ala770Ser	rs1355649064	missense variant	-	NC_000007.14:g.41967719C>A	gnomAD
GLI3	P10071	p.Ala770Pro	COSM453048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967719C>G	NCI-TCGA Cosmic
GLI3	P10071	p.Lys773Arg	rs773266300	missense variant	-	NC_000007.14:g.41967709T>C	ExAC,gnomAD
GLI3	P10071	p.Met775Leu	rs1358129244	missense variant	-	NC_000007.14:g.41967704T>A	gnomAD
GLI3	P10071	p.Glu776Lys	rs979389675	missense variant	-	NC_000007.14:g.41967701C>T	TOPMed
GLI3	P10071	p.Glu776Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967701C>G	NCI-TCGA
GLI3	P10071	p.His777Tyr	rs201321024	missense variant	-	NC_000007.14:g.41967698G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.His777Gln	rs1057524835	missense variant	-	NC_000007.14:g.41967696G>T	TOPMed,gnomAD
GLI3	P10071	p.His777Arg	COSM3929043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967697T>C	NCI-TCGA Cosmic
GLI3	P10071	p.His777Asp	COSM746903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967698G>C	NCI-TCGA Cosmic
GLI3	P10071	p.Val778Ile	rs371775636	missense variant	-	NC_000007.14:g.41967695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val778Ala	rs774393783	missense variant	-	NC_000007.14:g.41967694A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu781Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967685T>C	NCI-TCGA
GLI3	P10071	p.Arg782Ter	RCV000031871	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967674_41967684del	ClinVar
GLI3	P10071	p.Lys784Ter	RCV000031872	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41967674_41967678del	ClinVar
GLI3	P10071	p.Gln785Arg	rs1276672793	missense variant	-	NC_000007.14:g.41967673T>C	TOPMed
GLI3	P10071	p.Val786Ala	rs768941111	missense variant	-	NC_000007.14:g.41967670A>G	ExAC,gnomAD
GLI3	P10071	p.Asn787Lys	rs10259802	missense variant	-	NC_000007.14:g.41967666A>T	ExAC,gnomAD
GLI3	P10071	p.Gly788Arg	rs1472508772	missense variant	-	NC_000007.14:g.41967665C>T	gnomAD
GLI3	P10071	p.Met789Ile	rs775993446	missense variant	-	NC_000007.14:g.41967660C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met789Lys	COSM4917111	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967661A>T	NCI-TCGA Cosmic
GLI3	P10071	p.Phe790Val	rs770416131	missense variant	-	NC_000007.14:g.41967659A>C	ExAC,gnomAD
GLI3	P10071	p.Phe790Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967658A>G	NCI-TCGA
GLI3	P10071	p.Pro791Leu	rs201419477	missense variant	-	NC_000007.14:g.41967655G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg792Gln	rs546878700	missense variant	-	NC_000007.14:g.41967652C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg792Ter	rs121917714	stop gained	Greig cephalopolysyndactyly syndrome (gcps)	NC_000007.14:g.41967653G>A	gnomAD
GLI3	P10071	p.Arg792Ter	RCV000489344	nonsense	-	NC_000007.14:g.41967653G>A	ClinVar
GLI3	P10071	p.Arg792Ter	RCV000014840	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41967653G>A	ClinVar
GLI3	P10071	p.Asn794Lys	rs1226324102	missense variant	-	NC_000007.14:g.41967645G>T	gnomAD
GLI3	P10071	p.Asn794Ser	rs1046503721	missense variant	-	NC_000007.14:g.41967646T>C	TOPMed,gnomAD
GLI3	P10071	p.Pro798Ser	rs1377781940	missense variant	-	NC_000007.14:g.41967635G>A	gnomAD
GLI3	P10071	p.Pro799Ala	rs747717830	missense variant	-	NC_000007.14:g.41967632G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro799Thr	rs747717830	missense variant	-	NC_000007.14:g.41967632G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro799Ser	rs747717830	missense variant	-	NC_000007.14:g.41967632G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala801Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41967626C>T	NCI-TCGA
GLI3	P10071	p.Pro802Ala	rs1017371155	missense variant	-	NC_000007.14:g.41967623G>C	TOPMed
GLI3	P10071	p.Ala803Ser	rs779956431	missense variant	-	NC_000007.14:g.41967620C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala803Glu	rs34169786	missense variant	-	NC_000007.14:g.41967619G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala803Val	rs34169786	missense variant	-	NC_000007.14:g.41967619G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala803Pro	rs779956431	missense variant	-	NC_000007.14:g.41967620C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro806His	rs764152858	missense variant	-	NC_000007.14:g.41967610G>T	ExAC,gnomAD
GLI3	P10071	p.Pro806Leu	rs764152858	missense variant	-	NC_000007.14:g.41967610G>A	ExAC,gnomAD
GLI3	P10071	p.Leu807Phe	rs886039381	missense variant	-	NC_000007.14:g.41967608G>A	TOPMed,gnomAD
GLI3	P10071	p.Leu807Phe	RCV000256074	missense variant	-	NC_000007.14:g.41967608G>A	ClinVar
GLI3	P10071	p.Ile808Met	rs62622373	missense variant	-	NC_000007.14:g.41967603T>C	UniProt,dbSNP
GLI3	P10071	p.Ile808Met	VAR_010056	missense variant	-	NC_000007.14:g.41967603T>C	UniProt
GLI3	P10071	p.Ile808Met	rs62622373	missense variant	-	NC_000007.14:g.41967603T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile808Leu	rs775699703	missense variant	-	NC_000007.14:g.41967605T>A	ExAC,gnomAD
GLI3	P10071	p.Ile808Val	rs775699703	missense variant	-	NC_000007.14:g.41967605T>C	ExAC,gnomAD
GLI3	P10071	p.Ile808Met	RCV000421865	missense variant	-	NC_000007.14:g.41967603T>C	ClinVar
GLI3	P10071	p.Ile808Leu	COSM3832780	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41967605T>G	NCI-TCGA Cosmic
GLI3	P10071	p.Asn810Ser	rs897778692	missense variant	-	NC_000007.14:g.41967598T>C	TOPMed,gnomAD
GLI3	P10071	p.Thr812Ile	rs1271650442	missense variant	-	NC_000007.14:g.41966638G>A	TOPMed
GLI3	P10071	p.Gln813Arg	rs1000039799	missense variant	-	NC_000007.14:g.41966635T>C	TOPMed,gnomAD
GLI3	P10071	p.Gln813His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966634C>A	NCI-TCGA
GLI3	P10071	p.Ser814Tyr	rs375964783	missense variant	-	NC_000007.14:g.41966632G>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn815Lys	rs147561570	missense variant	-	NC_000007.14:g.41966628G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn816Thr	rs968591547	missense variant	-	NC_000007.14:g.41966626T>G	TOPMed
GLI3	P10071	p.Cys818Arg	rs1420049770	missense variant	-	NC_000007.14:g.41966621A>G	gnomAD
GLI3	P10071	p.Cys818Phe	COSM6110258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966620C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ser819Arg	rs1246902331	missense variant	-	NC_000007.14:g.41966616G>T	TOPMed
GLI3	P10071	p.Gly822Glu	rs745591513	missense variant	-	NC_000007.14:g.41966608C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro823Thr	rs1020096922	missense variant	-	NC_000007.14:g.41966606G>T	TOPMed
GLI3	P10071	p.Thr825Met	rs952113977	missense variant	-	NC_000007.14:g.41966599G>A	-
GLI3	P10071	p.Leu826Val	rs371207484	missense variant	-	NC_000007.14:g.41966597G>C	ESP,ExAC,gnomAD
GLI3	P10071	p.Leu826Phe	rs371207484	missense variant	-	NC_000007.14:g.41966597G>A	ESP,ExAC,gnomAD
GLI3	P10071	p.Leu827Ile	COSM3881015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966594G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Pro828Leu	rs1481839480	missense variant	-	NC_000007.14:g.41966590G>A	gnomAD
GLI3	P10071	p.Pro828Ter	RCV000031874	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966592del	ClinVar
GLI3	P10071	p.Gly829Val	rs758458885	missense variant	-	NC_000007.14:g.41966587C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly829Ser	rs377669558	missense variant	-	NC_000007.14:g.41966588C>T	ESP,ExAC,gnomAD
GLI3	P10071	p.Gly829Asp	COSM3881013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966587C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Arg830Lys	rs892576057	missense variant	-	NC_000007.14:g.41966584C>T	TOPMed
GLI3	P10071	p.Ser831Arg	rs752838669	missense variant	-	NC_000007.14:g.41966580G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser831Arg	RCV000393591	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966580G>T	ClinVar
GLI3	P10071	p.Ser831Arg	RCV000348583	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41966580G>T	ClinVar
GLI3	P10071	p.Ser831Arg	RCV000308790	missense variant	Polydactyly	NC_000007.14:g.41966580G>T	ClinVar
GLI3	P10071	p.Asp832Asn	rs1156987879	missense variant	-	NC_000007.14:g.41966579C>T	TOPMed
GLI3	P10071	p.Asp832Val	rs765491223	missense variant	-	NC_000007.14:g.41966578T>A	ExAC,gnomAD
GLI3	P10071	p.Leu833Phe	rs1434360142	missense variant	-	NC_000007.14:g.41966576G>A	gnomAD
GLI3	P10071	p.Leu833Ile	COSM1089658	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966576G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ser834Cys	rs375261329	missense variant	-	NC_000007.14:g.41966572G>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser834Phe	COSM3638703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966572G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Gly835Arg	rs1308940805	missense variant	-	NC_000007.14:g.41966570C>T	gnomAD
GLI3	P10071	p.Val836Met	rs766814938	missense variant	-	NC_000007.14:g.41966567C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val836Leu	rs766814938	missense variant	-	NC_000007.14:g.41966567C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val836Glu	rs761055361	missense variant	-	NC_000007.14:g.41966566A>T	ExAC,gnomAD
GLI3	P10071	p.Asp837Gly	rs1329335991	missense variant	-	NC_000007.14:g.41966563T>C	TOPMed
GLI3	P10071	p.Val838Leu	rs773727910	missense variant	-	NC_000007.14:g.41966561C>G	ExAC
GLI3	P10071	p.Thr839Ala	rs1009314221	missense variant	-	NC_000007.14:g.41966558T>C	TOPMed
GLI3	P10071	p.Thr839Ile	rs1400246671	missense variant	-	NC_000007.14:g.41966557G>A	gnomAD
GLI3	P10071	p.Met840Ile	rs1283743237	missense variant	-	NC_000007.14:g.41966553C>T	TOPMed
GLI3	P10071	p.Arg847Lys	rs143406263	missense variant	-	NC_000007.14:g.41966533C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg847Lys	RCV000598483	missense variant	-	NC_000007.14:g.41966533C>T	ClinVar
GLI3	P10071	p.Asp848Asn	COSM1568985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966531C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ser850Arg	rs1454810711	missense variant	-	NC_000007.14:g.41966523G>C	TOPMed,gnomAD
GLI3	P10071	p.Ala851Ser	rs762464634	missense variant	-	NC_000007.14:g.41966522C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala851Thr	rs762464634	missense variant	-	NC_000007.14:g.41966522C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr853Ser	rs1472470001	missense variant	-	NC_000007.14:g.41966515G>C	gnomAD
GLI3	P10071	p.Ile854Val	rs201325993	missense variant	-	NC_000007.14:g.41966513T>C	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Ser855Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966508G>T	NCI-TCGA
GLI3	P10071	p.Ser856Leu	rs116840760	missense variant	-	NC_000007.14:g.41966506G>A	gnomAD
GLI3	P10071	p.Ser856Ter	rs116840760	stop gained	-	NC_000007.14:g.41966506G>T	gnomAD
GLI3	P10071	p.Ser856Ter	RCV000031875	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966506G>T	ClinVar
GLI3	P10071	p.Arg862His	rs1206529384	missense variant	-	NC_000007.14:g.41966488C>T	gnomAD
GLI3	P10071	p.Arg862His	RCV000519822	missense variant	-	NC_000007.14:g.41966488C>T	ClinVar
GLI3	P10071	p.Arg863His	rs1270096533	missense variant	-	NC_000007.14:g.41966485C>T	TOPMed
GLI3	P10071	p.Arg863Cys	rs1328292775	missense variant	-	NC_000007.14:g.41966486G>A	TOPMed,gnomAD
GLI3	P10071	p.Gly866Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966476C>A	NCI-TCGA
GLI3	P10071	p.Ser873Arg	rs779193787	missense variant	-	NC_000007.14:g.41966454G>T	ExAC,gnomAD
GLI3	P10071	p.Ser873Asn	rs748236766	missense variant	-	NC_000007.14:g.41966455C>T	ExAC,gnomAD
GLI3	P10071	p.Arg874His	COSM4964961	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966452C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Arg874Ter	RCV000031876	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966454del	ClinVar
GLI3	P10071	p.Arg875Cys	rs755227076	missense variant	-	NC_000007.14:g.41966450G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg875Leu	COSM746904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966449C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ser876Cys	rs1395759780	missense variant	-	NC_000007.14:g.41966446G>C	gnomAD
GLI3	P10071	p.Ser877Ter	RCV000031877	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966446del	ClinVar
GLI3	P10071	p.Glu878Lys	COSM4687161	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966441C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ala879Thr	rs137939155	missense variant	-	NC_000007.14:g.41966438C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala879Thr	RCV000531667	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41966438C>T	ClinVar
GLI3	P10071	p.Gln881His	rs756451306	missense variant	-	NC_000007.14:g.41966430C>G	ExAC,gnomAD
GLI3	P10071	p.Gln881Arg	rs766540476	missense variant	-	NC_000007.14:g.41966431T>C	ExAC,gnomAD
GLI3	P10071	p.Ala882Gly	rs1428608037	missense variant	-	NC_000007.14:g.41966428G>C	gnomAD
GLI3	P10071	p.Glu883Lys	COSM4851574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966426C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Gly884Asp	rs1186671491	missense variant	-	NC_000007.14:g.41966422C>T	gnomAD
GLI3	P10071	p.Arg885Gln	rs750762876	missense variant	-	NC_000007.14:g.41966419C>T	ExAC,gnomAD
GLI3	P10071	p.Arg885Trp	rs1273637081	missense variant	-	NC_000007.14:g.41966420G>A	gnomAD
GLI3	P10071	p.Arg885Leu	COSM6110260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966419C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro886Ser	rs368610325	missense variant	-	NC_000007.14:g.41966417G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln887Lys	rs371857859	missense variant	-	NC_000007.14:g.41966414G>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn888Lys	rs1036574796	missense variant	-	NC_000007.14:g.41966409G>C	TOPMed
GLI3	P10071	p.Val889Ala	rs759079969	missense variant	-	NC_000007.14:g.41966407A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val889Met	rs1296035859	missense variant	-	NC_000007.14:g.41966408C>T	gnomAD
GLI3	P10071	p.Val889Glu	rs759079969	missense variant	-	NC_000007.14:g.41966407A>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val891Met	rs776220927	missense variant	-	NC_000007.14:g.41966402C>T	ExAC,gnomAD
GLI3	P10071	p.Ala892Val	rs770507176	missense variant	-	NC_000007.14:g.41966398G>A	ExAC,gnomAD
GLI3	P10071	p.Asp893Glu	rs760452025	missense variant	-	NC_000007.14:g.41966394G>T	ExAC,gnomAD
GLI3	P10071	p.Asp893Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966396C>T	NCI-TCGA
GLI3	P10071	p.Tyr895Ter	rs772948115	stop gained	-	NC_000007.14:g.41966388G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Tyr895Ter	RCV000503394	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41966388G>C	ClinVar
GLI3	P10071	p.Asp896Tyr	rs1462048687	missense variant	-	NC_000007.14:g.41966387C>A	gnomAD
GLI3	P10071	p.Asp901Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966372C>A	NCI-TCGA
GLI3	P10071	p.Ala902Val	rs1209776843	missense variant	-	NC_000007.14:g.41966368G>A	TOPMed
GLI3	P10071	p.Ala902Thr	rs1253583847	missense variant	-	NC_000007.14:g.41966369C>T	TOPMed,gnomAD
GLI3	P10071	p.Ser903Trp	rs1449663307	missense variant	-	NC_000007.14:g.41966365G>C	gnomAD
GLI3	P10071	p.Arg904His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966362C>T	NCI-TCGA
GLI3	P10071	p.Arg904Cys	COSM3881010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966363G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Arg905Cys	rs1484058686	missense variant	-	NC_000007.14:g.41966360G>A	gnomAD
GLI3	P10071	p.Arg905His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966359C>T	NCI-TCGA
GLI3	P10071	p.Ser906Cys	rs368058804	missense variant	-	NC_000007.14:g.41966356G>C	ESP,ExAC,gnomAD
GLI3	P10071	p.Ala909Gly	rs780263938	missense variant	-	NC_000007.14:g.41966347G>C	ExAC,gnomAD
GLI3	P10071	p.Ala909Gly	RCV000578089	missense variant	-	NC_000007.14:g.41966347G>C	ClinVar
GLI3	P10071	p.Ser910Gly	rs756290493	missense variant	-	NC_000007.14:g.41966345T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser910Asn	rs750790986	missense variant	-	NC_000007.14:g.41966344C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln911His	rs781465968	missense variant	-	NC_000007.14:g.41966340C>G	ExAC,gnomAD
GLI3	P10071	p.Ser912Asn	rs757735624	missense variant	-	NC_000007.14:g.41966338C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser912Arg	rs752024375	missense variant	-	NC_000007.14:g.41966337G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp913Asn	rs1305603243	missense variant	-	NC_000007.14:g.41966336C>T	gnomAD
GLI3	P10071	p.Gly914Ser	rs147004305	missense variant	-	NC_000007.14:g.41966333C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly914Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966332C>T	NCI-TCGA
GLI3	P10071	p.Gly914Ter	RCV000279878	frameshift	GLI3-Related Disorders	NC_000007.14:g.41966333del	ClinVar
GLI3	P10071	p.Pro916His	rs753292934	missense variant	-	NC_000007.14:g.41966326G>T	ExAC,gnomAD
GLI3	P10071	p.Pro916Ser	rs1174300771	missense variant	-	NC_000007.14:g.41966327G>A	gnomAD
GLI3	P10071	p.Pro916Arg	rs753292934	missense variant	-	NC_000007.14:g.41966326G>C	ExAC,gnomAD
GLI3	P10071	p.Pro916Leu	rs753292934	missense variant	-	NC_000007.14:g.41966326G>A	ExAC,gnomAD
GLI3	P10071	p.Ser917Asn	rs1427549343	missense variant	-	NC_000007.14:g.41966323C>T	TOPMed
GLI3	P10071	p.Leu919Phe	rs760305537	missense variant	-	NC_000007.14:g.41966318G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser920Gly	rs1204440267	missense variant	-	NC_000007.14:g.41966315T>C	TOPMed,gnomAD
GLI3	P10071	p.Thr922Met	rs773038952	missense variant	-	NC_000007.14:g.41966308G>A	ExAC,gnomAD
GLI3	P10071	p.Ala924Thr	rs1280457707	missense variant	-	NC_000007.14:g.41966303C>T	gnomAD
GLI3	P10071	p.Gln926Lys	rs927007372	missense variant	-	NC_000007.14:g.41966297G>T	TOPMed
GLI3	P10071	p.Arg928Gly	rs1286089459	missense variant	-	NC_000007.14:g.41966291G>C	gnomAD
GLI3	P10071	p.Arg928His	rs1408670754	missense variant	-	NC_000007.14:g.41966290C>T	gnomAD
GLI3	P10071	p.Ala931Val	rs1336053978	missense variant	-	NC_000007.14:g.41966281G>A	TOPMed,gnomAD
GLI3	P10071	p.Ala931Gly	rs1336053978	missense variant	-	NC_000007.14:g.41966281G>C	TOPMed,gnomAD
GLI3	P10071	p.Lys932Arg	rs780060768	missense variant	-	NC_000007.14:g.41966278T>C	ExAC,gnomAD
GLI3	P10071	p.Lys932Thr	COSM3881009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966278T>G	NCI-TCGA Cosmic
GLI3	P10071	p.Tyr933Ter	rs116840763	stop gained	-	NC_000007.14:g.41966274G>C	-
GLI3	P10071	p.Tyr933Ter	RCV000031878	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966274G>C	ClinVar
GLI3	P10071	p.Ala934Val	rs770041763	missense variant	-	NC_000007.14:g.41966272G>A	ExAC,gnomAD
GLI3	P10071	p.Ala934Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966273C>T	NCI-TCGA
GLI3	P10071	p.Ala934Pro	rs28933372	missense variant	Greig cephalo-poly-syndactyly syndrome (GCPS)	NC_000007.14:g.41966273C>G	UniProt,dbSNP
GLI3	P10071	p.Ala934Pro	VAR_021482	missense variant	Greig cephalo-poly-syndactyly syndrome (GCPS)	NC_000007.14:g.41966273C>G	UniProt
GLI3	P10071	p.Ala934Pro	rs28933372	missense variant	-	NC_000007.14:g.41966273C>G	-
GLI3	P10071	p.Ala934Pro	RCV000030896	missense variant	Greig cephalopolysyndactyly syndrome, severe	NC_000007.14:g.41966273C>G	ClinVar
GLI3	P10071	p.Ala935Asp	rs1410016774	missense variant	-	NC_000007.14:g.41966269G>T	gnomAD
GLI3	P10071	p.Ala935Pro	rs148276775	missense variant	-	NC_000007.14:g.41966270C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala935Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966269G>A	NCI-TCGA
GLI3	P10071	p.Ala935Thr	rs148276775	missense variant	-	NC_000007.14:g.41966270C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly938Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966260C>T	NCI-TCGA
GLI3	P10071	p.Gly938Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966261C>T	NCI-TCGA
GLI3	P10071	p.Gly939Arg	rs1239337702	missense variant	-	NC_000007.14:g.41966258C>T	gnomAD
GLI3	P10071	p.Pro940Leu	rs1285586325	missense variant	-	NC_000007.14:g.41966254G>A	TOPMed,gnomAD
GLI3	P10071	p.Pro940Ser	rs1442311408	missense variant	-	NC_000007.14:g.41966255G>A	gnomAD
GLI3	P10071	p.Pro941Leu	rs1327594220	missense variant	-	NC_000007.14:g.41966251G>A	gnomAD
GLI3	P10071	p.Pro942Leu	rs1227441848	missense variant	-	NC_000007.14:g.41966248G>A	gnomAD
GLI3	P10071	p.Pro942Arg	rs1227441848	missense variant	-	NC_000007.14:g.41966248G>C	gnomAD
GLI3	P10071	p.Thr943Lys	rs778190529	missense variant	-	NC_000007.14:g.41966245G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr943Met	rs778190529	missense variant	-	NC_000007.14:g.41966245G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu945Val	rs780620627	missense variant	-	NC_000007.14:g.41966240G>C	gnomAD
GLI3	P10071	p.Asn947Lys	rs755763182	missense variant	-	NC_000007.14:g.41966232G>C	ExAC,gnomAD
GLI3	P10071	p.Asn947Ser	rs1386235963	missense variant	-	NC_000007.14:g.41966233T>C	gnomAD
GLI3	P10071	p.Met948Lys	rs1416273235	missense variant	-	NC_000007.14:g.41966230A>T	TOPMed,gnomAD
GLI3	P10071	p.Met948Ile	rs1180124277	missense variant	-	NC_000007.14:g.41966229C>A	TOPMed,gnomAD
GLI3	P10071	p.Met948Val	rs1406121962	missense variant	-	NC_000007.14:g.41966231T>C	gnomAD
GLI3	P10071	p.Met948Thr	rs1416273235	missense variant	-	NC_000007.14:g.41966230A>G	TOPMed,gnomAD
GLI3	P10071	p.Met948Ile	rs1180124277	missense variant	-	NC_000007.14:g.41966229C>T	TOPMed,gnomAD
GLI3	P10071	p.Glu949Lys	rs1472519342	missense variant	-	NC_000007.14:g.41966228C>T	TOPMed,gnomAD
GLI3	P10071	p.Arg950Lys	rs1243190228	missense variant	-	NC_000007.14:g.41966224C>T	gnomAD
GLI3	P10071	p.Met951Ile	rs750002436	missense variant	-	NC_000007.14:g.41966220C>A	ExAC,gnomAD
GLI3	P10071	p.Met951Leu	rs1191122250	missense variant	-	NC_000007.14:g.41966222T>A	gnomAD
GLI3	P10071	p.Met951Ile	rs750002436	missense variant	-	NC_000007.14:g.41966220C>G	ExAC,gnomAD
GLI3	P10071	p.Ser952Cys	rs1247847420	missense variant	-	NC_000007.14:g.41966219T>A	gnomAD
GLI3	P10071	p.Leu953Gln	rs1321905718	missense variant	-	NC_000007.14:g.41966215A>T	gnomAD
GLI3	P10071	p.Leu953Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966215A>G	NCI-TCGA
GLI3	P10071	p.Lys954Asn	rs949855345	missense variant	-	NC_000007.14:g.41966211C>A	TOPMed,gnomAD
GLI3	P10071	p.Thr955Lys	rs767298749	missense variant	-	NC_000007.14:g.41966209G>T	ExAC,gnomAD
GLI3	P10071	p.Thr955Met	rs767298749	missense variant	-	NC_000007.14:g.41966209G>A	ExAC,gnomAD
GLI3	P10071	p.Arg956Leu	rs774291419	missense variant	-	NC_000007.14:g.41966206C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg956Cys	COSM3394755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966207G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ala958Val	rs373918769	missense variant	-	NC_000007.14:g.41966200G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu959Val	rs762852100	missense variant	-	NC_000007.14:g.41966198G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly961Arg	rs745986297	missense variant	-	NC_000007.14:g.41966192C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly961Trp	rs745986297	missense variant	-	NC_000007.14:g.41966192C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly961Val	rs1163025235	missense variant	-	NC_000007.14:g.41966191C>A	gnomAD
GLI3	P10071	p.Gly961Arg	rs745986297	missense variant	-	NC_000007.14:g.41966192C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly961Arg	RCV000762451	missense variant	-	NC_000007.14:g.41966192C>T	ClinVar
GLI3	P10071	p.Asp962Asn	rs1390905808	missense variant	-	NC_000007.14:g.41966189C>T	gnomAD
GLI3	P10071	p.Ala963Thr	rs776779570	missense variant	-	NC_000007.14:g.41966186C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala963Val	rs774346793	missense variant	-	NC_000007.14:g.41966185G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu965Asp	rs1248079742	missense variant	-	NC_000007.14:g.41966178C>A	gnomAD
GLI3	P10071	p.Glu965Lys	rs1489678675	missense variant	-	NC_000007.14:g.41966180C>T	gnomAD
GLI3	P10071	p.Pro966Thr	rs1218979975	missense variant	-	NC_000007.14:g.41966177G>T	gnomAD
GLI3	P10071	p.Val968Met	rs939901638	missense variant	-	NC_000007.14:g.41966171C>T	TOPMed
GLI3	P10071	p.Val968Ter	RCV000486324	frameshift	-	NC_000007.14:g.41966172del	ClinVar
GLI3	P10071	p.Ala969Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966167G>C	NCI-TCGA
GLI3	P10071	p.Pro971Leu	rs1036583108	missense variant	-	NC_000007.14:g.41966161G>A	TOPMed,gnomAD
GLI3	P10071	p.Pro972Ala	rs758881740	missense variant	-	NC_000007.14:g.41966159G>C	ExAC,gnomAD
GLI3	P10071	p.Ala975Val	rs940859051	missense variant	-	NC_000007.14:g.41966149G>A	TOPMed,gnomAD
GLI3	P10071	p.Pro976Leu	rs755527500	missense variant	-	NC_000007.14:g.41966146G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro976Arg	rs755527500	missense variant	-	NC_000007.14:g.41966146G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg977Met	rs1371424239	missense variant	-	NC_000007.14:g.41966143C>A	gnomAD
GLI3	P10071	p.Cys979Ter	RCV000031879	frameshift	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966138del	ClinVar
GLI3	P10071	p.Asp981Asn	rs746678996	missense variant	-	NC_000007.14:g.41966132C>T	gnomAD
GLI3	P10071	p.Gly982Arg	rs751382968	missense variant	-	NC_000007.14:g.41966129C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly982Arg	rs751382968	missense variant	-	NC_000007.14:g.41966129C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly982Trp	COSM6110261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966129C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Gly983Arg	rs1435247603	missense variant	-	NC_000007.14:g.41966126C>T	gnomAD
GLI3	P10071	p.Gly983Glu	rs1423571284	missense variant	-	NC_000007.14:g.41966125C>T	gnomAD
GLI3	P10071	p.Ala984Val	rs1057480069	missense variant	-	NC_000007.14:g.41966122G>A	TOPMed
GLI3	P10071	p.His985Asn	rs764027264	missense variant	-	NC_000007.14:g.41966120G>T	ExAC,gnomAD
GLI3	P10071	p.Gly986Asp	rs909796647	missense variant	-	NC_000007.14:g.41966116C>T	TOPMed,gnomAD
GLI3	P10071	p.Tyr987Cys	RCV000326387	missense variant	Polydactyly	NC_000007.14:g.41966113T>C	ClinVar
GLI3	P10071	p.Tyr987Cys	rs777313061	missense variant	-	NC_000007.14:g.41966113T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Tyr987Cys	RCV000362411	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966113T>C	ClinVar
GLI3	P10071	p.Tyr987His	rs1433454388	missense variant	-	NC_000007.14:g.41966114A>G	TOPMed
GLI3	P10071	p.Tyr987Cys	RCV000271369	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41966113T>C	ClinVar
GLI3	P10071	p.Gly988Arg	rs765236732	missense variant	-	NC_000007.14:g.41966111C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly988Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966110C>A	NCI-TCGA
GLI3	P10071	p.Gly988Arg	rs765236732	missense variant	-	NC_000007.14:g.41966111C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg989Leu	rs548918938	missense variant	-	NC_000007.14:g.41966107C>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Arg989Gln	rs548918938	missense variant	-	NC_000007.14:g.41966107C>T	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Arg989Trp	rs1313713644	missense variant	-	NC_000007.14:g.41966108G>A	TOPMed,gnomAD
GLI3	P10071	p.Arg990His	rs1224363568	missense variant	-	NC_000007.14:g.41966104C>T	TOPMed
GLI3	P10071	p.Arg990Cys	rs978431561	missense variant	-	NC_000007.14:g.41966105G>A	TOPMed,gnomAD
GLI3	P10071	p.His991Gln	rs771130092	missense variant	-	NC_000007.14:g.41966100G>C	ExAC,gnomAD
GLI3	P10071	p.Leu992Val	rs1408063835	missense variant	-	NC_000007.14:g.41966099G>C	gnomAD
GLI3	P10071	p.Leu992Pro	rs1370106320	missense variant	-	NC_000007.14:g.41966098A>G	TOPMed,gnomAD
GLI3	P10071	p.Leu992Arg	rs1370106320	missense variant	-	NC_000007.14:g.41966098A>C	TOPMed,gnomAD
GLI3	P10071	p.Gln993Lys	rs1303913848	missense variant	-	NC_000007.14:g.41966096G>T	gnomAD
GLI3	P10071	p.Pro994Leu	rs772285708	missense variant	-	NC_000007.14:g.41966092G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro994Gln	rs772285708	missense variant	-	NC_000007.14:g.41966092G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro994Ser	rs1261203588	missense variant	-	NC_000007.14:g.41966093G>A	TOPMed
GLI3	P10071	p.Pro994Arg	rs772285708	missense variant	-	NC_000007.14:g.41966092G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.His995Gln	rs1175715941	missense variant	-	NC_000007.14:g.41966088G>T	TOPMed,gnomAD
GLI3	P10071	p.His995Gln	rs1175715941	missense variant	-	NC_000007.14:g.41966088G>C	TOPMed,gnomAD
GLI3	P10071	p.Asp996Asn	rs748566565	missense variant	-	NC_000007.14:g.41966087C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp996Tyr	rs748566565	missense variant	-	NC_000007.14:g.41966087C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp996Glu	rs988663443	missense variant	-	NC_000007.14:g.41966085A>T	TOPMed
GLI3	P10071	p.Ala997Glu	rs779228150	missense variant	-	NC_000007.14:g.41966083G>T	ExAC
GLI3	P10071	p.Ala997Val	COSM1450718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966083G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro998Arg	rs929387	missense variant	-	NC_000007.14:g.41966080G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro998Leu	rs929387	missense variant	-	NC_000007.14:g.41966080G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro998Ala	rs1420981151	missense variant	-	NC_000007.14:g.41966081G>C	gnomAD
GLI3	P10071	p.Pro998Leu	RCV000245039	missense variant	-	NC_000007.14:g.41966080G>A	ClinVar
GLI3	P10071	p.Pro998Leu	RCV000366034	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966080G>A	ClinVar
GLI3	P10071	p.Pro998Leu	RCV000274578	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41966080G>A	ClinVar
GLI3	P10071	p.Pro998Leu	RCV000756207	missense variant	-	NC_000007.14:g.41966080G>A	ClinVar
GLI3	P10071	p.Pro998Leu	RCV000311017	missense variant	Polydactyly	NC_000007.14:g.41966080G>A	ClinVar
GLI3	P10071	p.Gly999Val	rs756943513	missense variant	-	NC_000007.14:g.41966077C>A	ExAC
GLI3	P10071	p.Gly1001Ser	rs202182779	missense variant	-	NC_000007.14:g.41966072C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1001Cys	rs202182779	missense variant	-	NC_000007.14:g.41966072C>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1001Ter	RCV000031880	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41966069del	ClinVar
GLI3	P10071	p.Gly1001Arg	rs202182779	missense variant	-	NC_000007.14:g.41966072C>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1001Ser	RCV000249805	missense variant	-	NC_000007.14:g.41966072C>T	ClinVar
GLI3	P10071	p.Val1002Met	rs1254178356	missense variant	-	NC_000007.14:g.41966069C>T	gnomAD
GLI3	P10071	p.Val1002Leu	rs1254178356	missense variant	-	NC_000007.14:g.41966069C>G	gnomAD
GLI3	P10071	p.Val1002Leu	rs1254178356	missense variant	-	NC_000007.14:g.41966069C>A	gnomAD
GLI3	P10071	p.Arg1004Thr	rs752543356	missense variant	-	NC_000007.14:g.41966062C>G	ExAC,gnomAD
GLI3	P10071	p.Ala1005Thr	rs1270246445	missense variant	-	NC_000007.14:g.41966060C>T	gnomAD
GLI3	P10071	p.Pro1008Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966051G>A	NCI-TCGA
GLI3	P10071	p.Arg1010Trp	rs1208589443	missense variant	-	NC_000007.14:g.41966045G>A	gnomAD
GLI3	P10071	p.Thr1011Ala	rs1397866934	missense variant	-	NC_000007.14:g.41966042T>C	gnomAD
GLI3	P10071	p.Thr1011Ile	rs766486932	missense variant	-	NC_000007.14:g.41966041G>A	ExAC,gnomAD
GLI3	P10071	p.Thr1011Pro	rs1397866934	missense variant	-	NC_000007.14:g.41966042T>G	gnomAD
GLI3	P10071	p.Gly1012Val	rs760778129	missense variant	-	NC_000007.14:g.41966038C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1013Pro	rs953529969	missense variant	-	NC_000007.14:g.41966036A>G	TOPMed
GLI3	P10071	p.Glu1014Lys	rs373643864	missense variant	-	NC_000007.14:g.41966033C>T	ESP,ExAC,gnomAD
GLI3	P10071	p.Glu1014Gln	rs373643864	missense variant	-	NC_000007.14:g.41966033C>G	ESP,ExAC,gnomAD
GLI3	P10071	p.Gly1015Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41966029C>A	NCI-TCGA
GLI3	P10071	p.Leu1016Val	rs774846054	missense variant	-	NC_000007.14:g.41966027G>C	ExAC
GLI3	P10071	p.Ala1017Asp	rs1164784475	missense variant	-	NC_000007.14:g.41966023G>T	gnomAD
GLI3	P10071	p.Pro1019Leu	rs769027198	missense variant	-	NC_000007.14:g.41966017G>A	ExAC,gnomAD
GLI3	P10071	p.Arg1020His	rs1465156556	missense variant	-	NC_000007.14:g.41966014C>T	TOPMed,gnomAD
GLI3	P10071	p.Arg1020Cys	rs749856292	missense variant	-	NC_000007.14:g.41966015G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg1020Leu	rs1465156556	missense variant	-	NC_000007.14:g.41966014C>A	TOPMed,gnomAD
GLI3	P10071	p.Pro1022Arg	rs780814828	missense variant	-	NC_000007.14:g.41966008G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1022Thr	rs1316361444	missense variant	-	NC_000007.14:g.41966009G>T	gnomAD
GLI3	P10071	p.Pro1022Leu	COSM3881003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966008G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Arg1023Leu	rs1266274364	missense variant	-	NC_000007.14:g.41966005C>A	gnomAD
GLI3	P10071	p.Arg1023Cys	rs770522719	missense variant	-	NC_000007.14:g.41966006G>A	ExAC,gnomAD
GLI3	P10071	p.Arg1023Gly	rs770522719	missense variant	-	NC_000007.14:g.41966006G>C	ExAC,gnomAD
GLI3	P10071	p.Phe1024Cys	COSM3923619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41966002A>C	NCI-TCGA Cosmic
GLI3	P10071	p.Ser1025Asn	rs1320063680	missense variant	-	NC_000007.14:g.41965999C>T	TOPMed,gnomAD
GLI3	P10071	p.Ser1025Gly	rs1247064295	missense variant	-	NC_000007.14:g.41966000T>C	gnomAD
GLI3	P10071	p.Ser1026Gly	rs994847820	missense variant	-	NC_000007.14:g.41965997T>C	TOPMed
GLI3	P10071	p.Ser1026Arg	rs1436522227	missense variant	-	NC_000007.14:g.41965995G>T	gnomAD
GLI3	P10071	p.Leu1027Phe	rs746534141	missense variant	-	NC_000007.14:g.41965994G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1027Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965994G>T	NCI-TCGA
GLI3	P10071	p.Leu1027Phe	RCV000634031	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965994G>A	ClinVar
GLI3	P10071	p.Ser1028Ile	rs886043721	missense variant	-	NC_000007.14:g.41965989_41965990delinsAA	-
GLI3	P10071	p.Ser1028Ile	rs79049330	missense variant	-	NC_000007.14:g.41965990C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1028Ile	RCV000125246	missense variant	-	NC_000007.14:g.41965990C>A	ClinVar
GLI3	P10071	p.Ser1028Ile	RCV000544497	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965989_41965990delinsAA	ClinVar
GLI3	P10071	p.Ser1028Ile	RCV000332595	missense variant	-	NC_000007.14:g.41965989_41965990delinsAA	ClinVar
GLI3	P10071	p.Ser1029Asn	COSM3778434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965987C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Cys1030Gly	rs752425915	missense variant	-	NC_000007.14:g.41965985A>C	ExAC
GLI3	P10071	p.Asn1031Ser	rs375291254	missense variant	-	NC_000007.14:g.41965981T>C	gnomAD
GLI3	P10071	p.Pro1032Thr	rs1458991889	missense variant	-	NC_000007.14:g.41965979G>T	gnomAD
GLI3	P10071	p.Pro1032Arg	rs1366246170	missense variant	-	NC_000007.14:g.41965978G>C	gnomAD
GLI3	P10071	p.Pro1032Leu	COSM3638702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965978G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro1033Arg	rs376956433	missense variant	-	NC_000007.14:g.41965975G>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1033Leu	rs376956433	missense variant	-	NC_000007.14:g.41965975G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1033Gln	rs376956433	missense variant	-	NC_000007.14:g.41965975G>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1033ArgPheSerTerUnkUnk	COSM1450717	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41965975G>-	NCI-TCGA Cosmic
GLI3	P10071	p.Pro1033Gln	RCV000500463	missense variant	-	NC_000007.14:g.41965975G>T	ClinVar
GLI3	P10071	p.Ala1034Val	rs1446268237	missense variant	-	NC_000007.14:g.41965972G>A	gnomAD
GLI3	P10071	p.Ala1034Thr	rs541216784	missense variant	-	NC_000007.14:g.41965973C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1035Ile	rs767628670	missense variant	-	NC_000007.14:g.41965968C>A	ExAC,gnomAD
GLI3	P10071	p.Ala1036Pro	rs762152194	missense variant	-	NC_000007.14:g.41965967C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1036Val	rs774552566	missense variant	-	NC_000007.14:g.41965966G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr1037Arg	rs769100742	missense variant	-	NC_000007.14:g.41965963G>C	ExAC,gnomAD
GLI3	P10071	p.Thr1037Met	rs769100742	missense variant	-	NC_000007.14:g.41965963G>A	ExAC,gnomAD
GLI3	P10071	p.Thr1037Lys	rs769100742	missense variant	-	NC_000007.14:g.41965963G>T	ExAC,gnomAD
GLI3	P10071	p.Ala1039Ser	rs770430876	missense variant	-	NC_000007.14:g.41965958C>A	ExAC,gnomAD
GLI3	P10071	p.Ala1039Gly	rs932573246	missense variant	-	NC_000007.14:g.41965957G>C	gnomAD
GLI3	P10071	p.Ala1039Thr	rs770430876	missense variant	-	NC_000007.14:g.41965958C>T	ExAC,gnomAD
GLI3	P10071	p.Ala1039Val	COSM3880999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965957G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ala1039Thr	RCV000557052	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965958C>T	ClinVar
GLI3	P10071	p.Glu1040Lys	rs772839719	missense variant	-	NC_000007.14:g.41965955C>T	ExAC,gnomAD
GLI3	P10071	p.Glu1040Lys	RCV000273966	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965955C>T	ClinVar
GLI3	P10071	p.Glu1040Val	rs376477553	missense variant	-	NC_000007.14:g.41965954T>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu1040Lys	RCV000387520	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965955C>T	ClinVar
GLI3	P10071	p.Glu1040Lys	RCV000255158	missense variant	-	NC_000007.14:g.41965955C>T	ClinVar
GLI3	P10071	p.Glu1040Lys	RCV000764715	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965955C>T	ClinVar
GLI3	P10071	p.Glu1040Lys	RCV000329014	missense variant	Polydactyly	NC_000007.14:g.41965955C>T	ClinVar
GLI3	P10071	p.Glu1040Val	RCV000359414	missense variant	-	NC_000007.14:g.41965954T>A	ClinVar
GLI3	P10071	p.Lys1041Arg	rs747875277	missense variant	-	NC_000007.14:g.41965951T>C	ExAC,gnomAD
GLI3	P10071	p.Arg1042Cys	rs944758206	missense variant	-	NC_000007.14:g.41965949G>A	TOPMed,gnomAD
GLI3	P10071	p.Arg1042Leu	rs778463017	missense variant	-	NC_000007.14:g.41965948C>A	ExAC,gnomAD
GLI3	P10071	p.Ser1043Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965946T>A	NCI-TCGA
GLI3	P10071	p.Ser1043Arg	rs1247834919	missense variant	-	NC_000007.14:g.41965946T>G	TOPMed
GLI3	P10071	p.Leu1044Pro	rs1372313472	missense variant	-	NC_000007.14:g.41965942A>G	gnomAD
GLI3	P10071	p.Val1045Leu	rs1166711228	missense variant	-	NC_000007.14:g.41965940C>G	TOPMed,gnomAD
GLI3	P10071	p.Val1045Met	rs1166711228	missense variant	-	NC_000007.14:g.41965940C>T	TOPMed,gnomAD
GLI3	P10071	p.Gln1047Pro	rs193053365	missense variant	-	NC_000007.14:g.41965933T>G	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1047Pro	rs1064796326	missense variant	-	NC_000007.14:g.41965932_41965933delinsTG	-
GLI3	P10071	p.Gln1047Pro	RCV000486434	missense variant	-	NC_000007.14:g.41965932_41965933delinsTG	ClinVar
GLI3	P10071	p.Gln1047Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965934G>T	NCI-TCGA
GLI3	P10071	p.Gln1047Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41965934G>A	NCI-TCGA
GLI3	P10071	p.Tyr1049Ter	RCV000578645	nonsense	-	NC_000007.14:g.41965926G>C	ClinVar
GLI3	P10071	p.Tyr1049Ter	rs779898173	stop gained	-	NC_000007.14:g.41965926G>C	ExAC,gnomAD
GLI3	P10071	p.Thr1050Ser	rs756110769	missense variant	-	NC_000007.14:g.41965925T>A	ExAC,gnomAD
GLI3	P10071	p.Thr1050Met	rs146556791	missense variant	-	NC_000007.14:g.41965924G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr1050Met	RCV000332936	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965924G>A	ClinVar
GLI3	P10071	p.Thr1050Ala	rs756110769	missense variant	-	NC_000007.14:g.41965925T>C	ExAC,gnomAD
GLI3	P10071	p.Thr1050Met	RCV000354031	missense variant	Polydactyly	NC_000007.14:g.41965924G>A	ClinVar
GLI3	P10071	p.Thr1050Met	RCV000278006	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965924G>A	ClinVar
GLI3	P10071	p.Arg1051Gln	rs1484111923	missense variant	-	NC_000007.14:g.41965921C>T	gnomAD
GLI3	P10071	p.Arg1051Trp	rs767681231	missense variant	-	NC_000007.14:g.41965922G>A	ExAC,gnomAD
GLI3	P10071	p.Arg1051Leu	COSM6177875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965921C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro1052Leu	COSM3638701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965918G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Glu1053Lys	rs1346124250	missense variant	-	NC_000007.14:g.41965916C>T	gnomAD
GLI3	P10071	p.Glu1053Gln	rs1346124250	missense variant	-	NC_000007.14:g.41965916C>G	gnomAD
GLI3	P10071	p.Gly1054Ser	rs764242789	missense variant	-	NC_000007.14:g.41965913C>T	ExAC,gnomAD
GLI3	P10071	p.Gly1055Ser	rs1343190471	missense variant	-	NC_000007.14:g.41965910C>T	TOPMed,gnomAD
GLI3	P10071	p.Gly1055Cys	rs1343190471	missense variant	-	NC_000007.14:g.41965910C>A	TOPMed,gnomAD
GLI3	P10071	p.Gln1056Pro	rs368505710	missense variant	-	NC_000007.14:g.41965906T>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg1058Gln	rs760174184	missense variant	-	NC_000007.14:g.41965900C>T	ExAC,gnomAD
GLI3	P10071	p.Phe1060Tyr	rs772566611	missense variant	-	NC_000007.14:g.41965894A>T	ExAC,gnomAD
GLI3	P10071	p.Phe1060Leu	rs1445787206	missense variant	-	NC_000007.14:g.41965893G>C	TOPMed
GLI3	P10071	p.His1061Asp	rs1165813966	missense variant	-	NC_000007.14:g.41965892G>C	TOPMed
GLI3	P10071	p.His1061Gln	rs565428084	missense variant	-	NC_000007.14:g.41965890G>C	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Ser1062Leu	rs867192776	missense variant	-	NC_000007.14:g.41965888G>A	-
GLI3	P10071	p.Ser1063Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965885G>A	NCI-TCGA
GLI3	P10071	p.Pro1064Ser	rs199876743	missense variant	-	NC_000007.14:g.41965883G>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Pro1064Arg	rs1428848190	missense variant	-	NC_000007.14:g.41965882G>C	gnomAD
GLI3	P10071	p.Cys1065Tyr	rs749077328	missense variant	-	NC_000007.14:g.41965879C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1068Thr	rs779881586	missense variant	-	NC_000007.14:g.41965870C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1068AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41965872G>-	NCI-TCGA
GLI3	P10071	p.Ile1069Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965868T>C	NCI-TCGA
GLI3	P10071	p.Thr1070Ser	RCV000424471	missense variant	-	NC_000007.14:g.41965865T>A	ClinVar
GLI3	P10071	p.Thr1070Ser	rs150907867	missense variant	-	NC_000007.14:g.41965865T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu1071Lys	rs1383387510	missense variant	-	NC_000007.14:g.41965862C>T	TOPMed
GLI3	P10071	p.Glu1071Asp	rs1454518823	missense variant	-	NC_000007.14:g.41965860C>A	TOPMed
GLI3	P10071	p.Glu1071Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965860C>G	NCI-TCGA
GLI3	P10071	p.Ser1077Tyr	rs1281364523	missense variant	-	NC_000007.14:g.41965843G>T	gnomAD
GLI3	P10071	p.Met1080Val	rs1228678646	missense variant	-	NC_000007.14:g.41965835T>C	gnomAD
GLI3	P10071	p.Asp1081Glu	rs1275283938	missense variant	-	NC_000007.14:g.41965830G>T	gnomAD
GLI3	P10071	p.Ala1082Thr	rs757310528	missense variant	-	NC_000007.14:g.41965829C>T	ExAC,gnomAD
GLI3	P10071	p.Ala1084Val	rs751601834	missense variant	-	NC_000007.14:g.41965822G>A	ExAC,gnomAD
GLI3	P10071	p.Asn1085Lys	rs1336159706	missense variant	-	NC_000007.14:g.41965818G>T	gnomAD
GLI3	P10071	p.Asn1085Ser	rs764409581	missense variant	-	NC_000007.14:g.41965819T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn1087Lys	rs370714837	missense variant	-	NC_000007.14:g.41965812G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn1087Lys	rs370714837	missense variant	-	NC_000007.14:g.41965812G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1088ValPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41965810_41965811insACTATGCATTTAATAAACAA	NCI-TCGA
GLI3	P10071	p.Asp1088Asn	rs765741673	missense variant	-	NC_000007.14:g.41965811C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu1089Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965806C>A	NCI-TCGA
GLI3	P10071	p.Asp1090Tyr	rs1160154250	missense variant	-	NC_000007.14:g.41965805C>A	gnomAD
GLI3	P10071	p.Asp1090Gly	rs142401529	missense variant	-	NC_000007.14:g.41965804T>C	ESP,TOPMed,gnomAD
GLI3	P10071	p.Phe1091Leu	rs760010914	missense variant	-	NC_000007.14:g.41965802A>G	ExAC,gnomAD
GLI3	P10071	p.Pro1093Leu	rs777149082	missense variant	-	NC_000007.14:g.41965795G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1094Glu	rs766812044	missense variant	-	NC_000007.14:g.41965791G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1095Gly	rs1554304659	missense variant	-	NC_000007.14:g.41965789T>C	-
GLI3	P10071	p.Asp1095His	rs370778213	missense variant	-	NC_000007.14:g.41965790C>G	ExAC,gnomAD
GLI3	P10071	p.Asp1095Tyr	rs370778213	missense variant	-	NC_000007.14:g.41965790C>A	ExAC,gnomAD
GLI3	P10071	p.Asp1095Gly	RCV000764714	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965789T>C	ClinVar
GLI3	P10071	p.Asp1095Asn	rs370778213	missense variant	-	NC_000007.14:g.41965790C>T	ExAC,gnomAD
GLI3	P10071	p.Asp1095Gly	RCV000503551	missense variant	-	NC_000007.14:g.41965789T>C	ClinVar
GLI3	P10071	p.Val1096Met	rs762642157	missense variant	-	NC_000007.14:g.41965787C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val1096Glu	rs775230046	missense variant	-	NC_000007.14:g.41965786A>T	ExAC,gnomAD
GLI3	P10071	p.Val1097Met	rs1226370900	missense variant	-	NC_000007.14:g.41965784C>T	TOPMed,gnomAD
GLI3	P10071	p.Val1097Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965784C>A	NCI-TCGA
GLI3	P10071	p.Gln1098Arg	rs769535212	missense variant	-	NC_000007.14:g.41965780T>C	ExAC,gnomAD
GLI3	P10071	p.Gln1098His	rs745669536	missense variant	-	NC_000007.14:g.41965779C>G	ExAC,gnomAD
GLI3	P10071	p.Asn1101Asp	rs375942559	missense variant	-	NC_000007.14:g.41965772T>C	ESP,TOPMed
GLI3	P10071	p.Ser1102Tyr	rs781124240	missense variant	-	NC_000007.14:g.41965768G>T	ExAC,gnomAD
GLI3	P10071	p.Asn1104Lys	COSM3431602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965761G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Gly1107Arg	rs1048260302	missense variant	-	NC_000007.14:g.41965754C>T	gnomAD
GLI3	P10071	p.Gly1107Val	rs778051402	missense variant	-	NC_000007.14:g.41965753C>A	ExAC,gnomAD
GLI3	P10071	p.Gly1107Ala	rs778051402	missense variant	-	NC_000007.14:g.41965753C>G	ExAC,gnomAD
GLI3	P10071	p.Tyr1108Ter	rs116840766	stop gained	-	NC_000007.14:g.41965749G>C	gnomAD
GLI3	P10071	p.Tyr1108Ter	rs116840766	stop gained	-	NC_000007.14:g.41965749G>T	gnomAD
GLI3	P10071	p.Tyr1108Ter	RCV000031881	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965749G>C	ClinVar
GLI3	P10071	p.Tyr1108Ter	RCV000634030	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965749G>T	ClinVar
GLI3	P10071	p.Glu1109Lys	rs758667297	missense variant	-	NC_000007.14:g.41965748C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1110Arg	rs752928283	missense variant	-	NC_000007.14:g.41965744T>C	ExAC,gnomAD
GLI3	P10071	p.His1111Pro	rs1343640230	missense variant	-	NC_000007.14:g.41965741T>G	gnomAD
GLI3	P10071	p.Phe1112Ser	rs779300306	missense variant	-	NC_000007.14:g.41965738A>G	ExAC,gnomAD
GLI3	P10071	p.Ser1114Arg	rs1416110645	missense variant	-	NC_000007.14:g.41965731G>T	gnomAD
GLI3	P10071	p.Ala1115Ser	rs552755211	missense variant	-	NC_000007.14:g.41965730C>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Ala1115Thr	rs552755211	missense variant	-	NC_000007.14:g.41965730C>T	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Leu1116Phe	rs761143091	missense variant	-	NC_000007.14:g.41965727G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1117Gln	rs531098202	missense variant	-	NC_000007.14:g.41965723G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1117Arg	rs531098202	missense variant	-	NC_000007.14:g.41965723G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1117Leu	rs531098202	missense variant	-	NC_000007.14:g.41965723G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1118Glu	rs769447723	missense variant	-	NC_000007.14:g.41965719G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1118Glu	rs769447723	missense variant	-	NC_000007.14:g.41965719G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1119Asn	rs374088219	missense variant	-	NC_000007.14:g.41965718C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1119Ala	rs1214685354	missense variant	-	NC_000007.14:g.41965717T>G	gnomAD
GLI3	P10071	p.Asp1119Tyr	rs374088219	missense variant	-	NC_000007.14:g.41965718C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1123Leu	rs776349164	missense variant	-	NC_000007.14:g.41965705G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.His1124Leu	rs746960838	missense variant	-	NC_000007.14:g.41965702T>A	ExAC,gnomAD
GLI3	P10071	p.His1124Gln	rs542238121	missense variant	-	NC_000007.14:g.41965701G>T	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.His1124ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41965703G>-	NCI-TCGA
GLI3	P10071	p.Gly1125Arg	rs772233504	missense variant	-	NC_000007.14:g.41965700C>G	ExAC,gnomAD
GLI3	P10071	p.Gly1125Val	rs748255243	missense variant	-	NC_000007.14:g.41965699C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1125Arg	rs772233504	missense variant	-	NC_000007.14:g.41965700C>T	ExAC,gnomAD
GLI3	P10071	p.Pro1126Leu	rs1359653403	missense variant	-	NC_000007.14:g.41965696G>A	gnomAD
GLI3	P10071	p.Gly1127Ser	rs370676430	missense variant	-	NC_000007.14:g.41965694C>T	ESP,ExAC,gnomAD
GLI3	P10071	p.Gly1127Cys	rs370676430	missense variant	-	NC_000007.14:g.41965694C>A	ESP,ExAC,gnomAD
GLI3	P10071	p.Asp1128Ter	RCV000031882	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965687_41965688del	ClinVar
GLI3	P10071	p.Asp1130His	rs1325052481	missense variant	-	NC_000007.14:g.41965685C>G	TOPMed
GLI3	P10071	p.Ala1131Val	rs750890276	missense variant	-	NC_000007.14:g.41965681G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1133Arg	rs768034418	missense variant	-	NC_000007.14:g.41965676C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1135Arg	rs1178491078	missense variant	-	NC_000007.14:g.41965669G>C	gnomAD
GLI3	P10071	p.Ser1137Arg	rs896103474	missense variant	-	NC_000007.14:g.41965662G>T	TOPMed,gnomAD
GLI3	P10071	p.Ser1137Arg	rs1192164245	missense variant	-	NC_000007.14:g.41965664T>G	gnomAD
GLI3	P10071	p.His1138Gln	rs762389791	missense variant	-	NC_000007.14:g.41965659G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.His1138Pro	rs1479547122	missense variant	-	NC_000007.14:g.41965660T>G	TOPMed
GLI3	P10071	p.His1138Asp	rs1248100060	missense variant	-	NC_000007.14:g.41965661G>C	gnomAD
GLI3	P10071	p.Ala1139Thr	rs752206282	missense variant	-	NC_000007.14:g.41965658C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1139Ser	rs752206282	missense variant	-	NC_000007.14:g.41965658C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1140Ser	rs1156955162	missense variant	-	NC_000007.14:g.41965655C>T	TOPMed
GLI3	P10071	p.Gly1140Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965654C>T	NCI-TCGA
GLI3	P10071	p.His1144Gln	rs375822737	missense variant	-	NC_000007.14:g.41965641A>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1146Phe	rs1271971372	missense variant	-	NC_000007.14:g.41965637G>A	gnomAD
GLI3	P10071	p.Leu1146Arg	COSM1488549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965636A>C	NCI-TCGA Cosmic
GLI3	P10071	p.Glu1147Ter	rs116840768	stop gained	Pallister-hall syndrome (phs)	NC_000007.14:g.41965634C>A	ExAC,gnomAD
GLI3	P10071	p.Glu1147Gln	rs116840768	missense variant	Pallister-hall syndrome (phs)	NC_000007.14:g.41965634C>G	ExAC,gnomAD
GLI3	P10071	p.Glu1147Asp	rs772143453	missense variant	-	NC_000007.14:g.41965632C>G	ExAC,gnomAD
GLI3	P10071	p.Glu1147Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965634C>T	NCI-TCGA
GLI3	P10071	p.Glu1147Ter	RCV000014829	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965634C>A	ClinVar
GLI3	P10071	p.Pro1149Leu	rs1404411124	missense variant	-	NC_000007.14:g.41965627G>A	gnomAD
GLI3	P10071	p.Pro1149Ser	COSM1089650	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965628G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Cys1150Phe	rs774628471	missense variant	-	NC_000007.14:g.41965624C>A	ExAC,gnomAD
GLI3	P10071	p.Cys1150Gly	rs748236819	missense variant	-	NC_000007.14:g.41965625A>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1151Thr	rs372503440	missense variant	-	NC_000007.14:g.41965622G>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu1152Asp	rs116840769	missense variant	-	NC_000007.14:g.41965617C>A	-
GLI3	P10071	p.Glu1152Asp	RCV000031883	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965617C>A	ClinVar
GLI3	P10071	p.Lys1155Glu	rs1177155939	missense variant	-	NC_000007.14:g.41965610T>C	gnomAD
GLI3	P10071	p.Thr1156Ile	rs948927518	missense variant	-	NC_000007.14:g.41965606G>A	TOPMed,gnomAD
GLI3	P10071	p.Thr1156Ser	rs780349828	missense variant	-	NC_000007.14:g.41965607T>A	ExAC,gnomAD
GLI3	P10071	p.Asp1157Asn	COSM1313080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965604C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Leu1158Pro	rs756384373	missense variant	-	NC_000007.14:g.41965600A>G	ExAC,gnomAD
GLI3	P10071	p.Gln1161Ter	rs116840770	stop gained	-	NC_000007.14:g.41965592G>A	-
GLI3	P10071	p.Gln1161Ter	RCV000031884	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965592G>A	ClinVar
GLI3	P10071	p.Gln1161Ter	RCV000814115	nonsense	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965592G>A	ClinVar
GLI3	P10071	p.Trp1162Arg	rs1251844115	missense variant	-	NC_000007.14:g.41965589A>G	gnomAD
GLI3	P10071	p.Glu1164Ter	RCV000778830	frameshift	GLI3-Related Disorders	NC_000007.14:g.41965583del	ClinVar
GLI3	P10071	p.Glu1164Lys	COSM188292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965583C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Glu1164Gln	rs1347050404	missense variant	-	NC_000007.14:g.41965583C>G	TOPMed
GLI3	P10071	p.Ser1166Ile	COSM3880994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965576C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ala1170Thr	rs753384480	missense variant	-	NC_000007.14:g.41965565C>T	ExAC,gnomAD
GLI3	P10071	p.Ala1170Gly	rs143942705	missense variant	-	NC_000007.14:g.41965564G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1170Ser	rs753384480	missense variant	-	NC_000007.14:g.41965565C>A	ExAC,gnomAD
GLI3	P10071	p.Asp1171Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965562C>A	NCI-TCGA
GLI3	P10071	p.Asp1171Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965562C>T	NCI-TCGA
GLI3	P10071	p.Ser1173Pro	rs1304000299	missense variant	-	NC_000007.14:g.41965556A>G	gnomAD
GLI3	P10071	p.Ser1174Pro	rs369483231	missense variant	-	NC_000007.14:g.41965553A>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Lys1176Asn	rs768573875	missense variant	-	NC_000007.14:g.41965545C>G	ExAC
GLI3	P10071	p.Leu1177Pro	rs1489961040	missense variant	-	NC_000007.14:g.41965543A>G	TOPMed
GLI3	P10071	p.Lys1178Gln	rs1222270573	missense variant	-	NC_000007.14:g.41965541T>G	TOPMed
GLI3	P10071	p.Lys1178Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965540T>G	NCI-TCGA
GLI3	P10071	p.Gly1180Arg	rs1468926820	missense variant	-	NC_000007.14:g.41965535C>G	gnomAD
GLI3	P10071	p.Gly1180Ala	rs749408059	missense variant	-	NC_000007.14:g.41965534C>G	ExAC
GLI3	P10071	p.Pro1181Leu	rs1160573533	missense variant	-	NC_000007.14:g.41965531G>A	gnomAD
GLI3	P10071	p.Arg1182Gln	rs1182420610	missense variant	-	NC_000007.14:g.41965528C>T	TOPMed,gnomAD
GLI3	P10071	p.Arg1182Trp	rs1249732177	missense variant	-	NC_000007.14:g.41965529G>A	gnomAD
GLI3	P10071	p.Arg1182Leu	rs1182420610	missense variant	-	NC_000007.14:g.41965528C>A	TOPMed,gnomAD
GLI3	P10071	p.Ala1184Asp	rs1160210014	missense variant	-	NC_000007.14:g.41965522G>T	TOPMed
GLI3	P10071	p.Ala1184Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965522G>A	NCI-TCGA
GLI3	P10071	p.Ala1184Thr	rs1240989723	missense variant	-	NC_000007.14:g.41965523C>T	gnomAD
GLI3	P10071	p.Val1185Gly	rs781588154	missense variant	-	NC_000007.14:g.41965519A>C	ExAC,gnomAD
GLI3	P10071	p.Pro1186Leu	rs541487979	missense variant	-	NC_000007.14:g.41965516G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1186Arg	rs541487979	missense variant	-	NC_000007.14:g.41965516G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1187His	rs778367264	missense variant	-	NC_000007.14:g.41965512C>G	ExAC,gnomAD
GLI3	P10071	p.Gln1187Lys	rs1303587069	missense variant	-	NC_000007.14:g.41965514G>T	TOPMed
GLI3	P10071	p.Gln1187Arg	COSM3880992	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965513T>C	NCI-TCGA Cosmic
GLI3	P10071	p.Arg1189Cys	rs1316453379	missense variant	-	NC_000007.14:g.41965508G>A	gnomAD
GLI3	P10071	p.Arg1189Leu	rs1314037869	missense variant	-	NC_000007.14:g.41965507C>A	gnomAD
GLI3	P10071	p.Ala1190Thr	rs754391600	missense variant	-	NC_000007.14:g.41965505C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1190Ser	rs754391600	missense variant	-	NC_000007.14:g.41965505C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1190Val	rs577288886	missense variant	-	NC_000007.14:g.41965504G>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Phe1191Leu	rs1336406944	missense variant	-	NC_000007.14:g.41965500A>C	gnomAD
GLI3	P10071	p.Gly1192Glu	rs1436290143	missense variant	-	NC_000007.14:g.41965498C>T	gnomAD
GLI3	P10071	p.Gly1192Val	COSM1089647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965498C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Cys1194Arg	rs1239275446	missense variant	-	NC_000007.14:g.41965493A>G	TOPMed,gnomAD
GLI3	P10071	p.Cys1194Ser	COSM6177878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965492C>G	NCI-TCGA Cosmic
GLI3	P10071	p.Asn1195Asp	rs1388897135	missense variant	-	NC_000007.14:g.41965490T>C	gnomAD
GLI3	P10071	p.Gly1196Arg	rs376413286	missense variant	-	NC_000007.14:g.41965487C>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1196Val	rs750219400	missense variant	-	NC_000007.14:g.41965486C>A	ExAC,gnomAD
GLI3	P10071	p.Gly1196Ser	rs376413286	missense variant	-	NC_000007.14:g.41965487C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1196Asp	rs750219400	missense variant	-	NC_000007.14:g.41965486C>T	ExAC,gnomAD
GLI3	P10071	p.Met1197Val	rs761728304	missense variant	-	NC_000007.14:g.41965484T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1197Leu	rs761728304	missense variant	-	NC_000007.14:g.41965484T>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1197Ile	rs1374541235	missense variant	-	NC_000007.14:g.41965482C>T	TOPMed,gnomAD
GLI3	P10071	p.Met1197Arg	rs1245642949	missense variant	-	NC_000007.14:g.41965483A>C	TOPMed
GLI3	P10071	p.Met1197Thr	COSM3412045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965483A>G	NCI-TCGA Cosmic
GLI3	P10071	p.Val1198Ala	rs1490881616	missense variant	-	NC_000007.14:g.41965480A>G	TOPMed
GLI3	P10071	p.Val1199Ile	COSM4687146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965478C>T	NCI-TCGA Cosmic
GLI3	P10071	p.His1200Asp	rs145069572	missense variant	-	NC_000007.14:g.41965475G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.His1200Asp	RCV000634038	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965475G>C	ClinVar
GLI3	P10071	p.Gln1202Pro	COSM3698392	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965468T>G	NCI-TCGA Cosmic
GLI3	P10071	p.Pro1204Ala	rs1182691242	missense variant	-	NC_000007.14:g.41965463G>C	gnomAD
GLI3	P10071	p.Pro1204Arg	rs543636524	missense variant	-	NC_000007.14:g.41965462G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1204Leu	rs543636524	missense variant	-	NC_000007.14:g.41965462G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg1206Ser	rs890431070	missense variant	-	NC_000007.14:g.41965455C>G	TOPMed,gnomAD
GLI3	P10071	p.Arg1206Ser	COSM746908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965455C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Arg1206Lys	rs776871680	missense variant	-	NC_000007.14:g.41965456C>T	ExAC,gnomAD
GLI3	P10071	p.Ser1207Arg	rs374797309	missense variant	-	NC_000007.14:g.41965452G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1207Asn	rs771236755	missense variant	-	NC_000007.14:g.41965453C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1207Gly	rs1443956002	missense variant	-	NC_000007.14:g.41965454T>C	TOPMed
GLI3	P10071	p.Gly1208Trp	rs369440387	missense variant	-	NC_000007.14:g.41965451C>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1208Arg	rs369440387	missense variant	-	NC_000007.14:g.41965451C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1209Leu	rs376682835	missense variant	-	NC_000007.14:g.41965447G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1209Ala	rs779661748	missense variant	-	NC_000007.14:g.41965448G>C	ExAC,gnomAD
GLI3	P10071	p.Pro1209Arg	rs376682835	missense variant	-	NC_000007.14:g.41965447G>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1209His	COSM3880991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965447G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ala1210Val	rs1334150591	missense variant	-	NC_000007.14:g.41965444G>A	TOPMed
GLI3	P10071	p.Gly1211Arg	rs757059523	missense variant	-	NC_000007.14:g.41965442C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1211Arg	RCV000406991	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965442C>T	ClinVar
GLI3	P10071	p.Gly1211Arg	RCV000344954	missense variant	Polydactyly	NC_000007.14:g.41965442C>T	ClinVar
GLI3	P10071	p.Gly1211Arg	RCV000305075	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965442C>T	ClinVar
GLI3	P10071	p.Gly1212Asp	rs751373757	missense variant	-	NC_000007.14:g.41965438C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1212Ter	RCV000454366	frameshift	Postaxial polydactyly type A1 (PAPA1)	NC_000007.14:g.41965442del	ClinVar
GLI3	P10071	p.Gly1212Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965439C>T	NCI-TCGA
GLI3	P10071	p.Gly1212Val	rs751373757	missense variant	-	NC_000007.14:g.41965438C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Tyr1213Cys	rs1043144793	missense variant	-	NC_000007.14:g.41965435T>C	TOPMed
GLI3	P10071	p.Tyr1213Ser	rs1043144793	missense variant	-	NC_000007.14:g.41965435T>G	TOPMed
GLI3	P10071	p.Gln1214Glu	rs1363624870	missense variant	-	NC_000007.14:g.41965433G>C	gnomAD
GLI3	P10071	p.Gln1214Pro	COSM4928926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965432T>G	NCI-TCGA Cosmic
GLI3	P10071	p.Gln1214Ter	COSM3778433	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41965433G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Leu1216Ile	rs112234184	missense variant	-	NC_000007.14:g.41965427G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1216Val	rs112234184	missense variant	-	NC_000007.14:g.41965427G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1216Phe	rs112234184	missense variant	-	NC_000007.14:g.41965427G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1217Trp	rs765262375	missense variant	-	NC_000007.14:g.41965424C>A	ExAC,gnomAD
GLI3	P10071	p.Gly1217Ala	rs759635709	missense variant	-	NC_000007.14:g.41965423C>G	ExAC,gnomAD
GLI3	P10071	p.Gly1217Arg	rs765262375	missense variant	-	NC_000007.14:g.41965424C>T	ExAC,gnomAD
GLI3	P10071	p.Glu1218Lys	rs771150664	missense variant	-	NC_000007.14:g.41965421C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn1221Ile	rs1241392922	missense variant	-	NC_000007.14:g.41965411T>A	TOPMed
GLI3	P10071	p.Pro1222Ser	rs118149040	missense variant	-	NC_000007.14:g.41965409G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1222Arg	COSM746909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965408G>C	NCI-TCGA Cosmic
GLI3	P10071	p.Pro1222Ser	RCV000174833	missense variant	-	NC_000007.14:g.41965409G>A	ClinVar
GLI3	P10071	p.Gly1224Ser	rs772438444	missense variant	-	NC_000007.14:g.41965403C>T	ExAC,gnomAD
GLI3	P10071	p.Gly1224Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965403C>A	NCI-TCGA
GLI3	P10071	p.Pro1226Gln	COSM3880990	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965396G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Glu1227Gly	rs536152310	missense variant	-	NC_000007.14:g.41965393T>C	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Leu1229Ser	rs1342120954	missense variant	-	NC_000007.14:g.41965387A>G	gnomAD
GLI3	P10071	p.Leu1229Phe	COSM3229906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965386C>G	NCI-TCGA Cosmic
GLI3	P10071	p.Met1230Ile	rs970269178	missense variant	-	NC_000007.14:g.41965383C>T	TOPMed
GLI3	P10071	p.Met1230Thr	rs1227159700	missense variant	-	NC_000007.14:g.41965384A>G	gnomAD
GLI3	P10071	p.Leu1231Arg	rs553376455	missense variant	-	NC_000007.14:g.41965381A>C	1000Genomes
GLI3	P10071	p.Leu1231Ile	COSM421451	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965382G>T	NCI-TCGA Cosmic
GLI3	P10071	p.His1232Gln	rs1406242856	missense variant	-	NC_000007.14:g.41965377G>T	gnomAD
GLI3	P10071	p.His1232Pro	rs780924905	missense variant	-	NC_000007.14:g.41965378T>G	ExAC,gnomAD
GLI3	P10071	p.His1232Arg	rs780924905	missense variant	-	NC_000007.14:g.41965378T>C	ExAC,gnomAD
GLI3	P10071	p.His1232Pro	RCV000192754	missense variant	-	NC_000007.14:g.41965378T>G	ClinVar
GLI3	P10071	p.Asn1233Ser	rs757037250	missense variant	-	NC_000007.14:g.41965375T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn1233Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965376T>C	NCI-TCGA
GLI3	P10071	p.Ser1234Ile	rs1430286599	missense variant	-	NC_000007.14:g.41965372C>A	gnomAD
GLI3	P10071	p.Ser1234Asn	COSM1089645	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965372C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Pro1235Ser	rs751296776	missense variant	-	NC_000007.14:g.41965370G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1236Arg	rs1021772969	missense variant	-	NC_000007.14:g.41965367C>T	TOPMed,gnomAD
GLI3	P10071	p.Gly1236Glu	rs150179670	missense variant	-	NC_000007.14:g.41965366C>T	1000Genomes,ESP,ExAC,gnomAD
GLI3	P10071	p.Gly1236Val	rs150179670	missense variant	-	NC_000007.14:g.41965366C>A	1000Genomes,ESP,ExAC,gnomAD
GLI3	P10071	p.Gly1236ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41965366_41965367insA	NCI-TCGA
GLI3	P10071	p.Gly1236Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41965367_41965368insCTGTCATCTGAGAAAAGCCTAGAGCTTTA	NCI-TCGA
GLI3	P10071	p.Ser1237Ile	rs1268213452	missense variant	-	NC_000007.14:g.41965363C>A	gnomAD
GLI3	P10071	p.Gly1238Asp	rs1439998267	missense variant	-	NC_000007.14:g.41965360C>T	gnomAD
GLI3	P10071	p.Gly1238Ser	rs754984727	missense variant	-	NC_000007.14:g.41965361C>T	ExAC,gnomAD
GLI3	P10071	p.Ser1240Gly	rs1195576395	missense variant	-	NC_000007.14:g.41965355T>C	gnomAD
GLI3	P10071	p.Ser1240Arg	rs1263345335	missense variant	-	NC_000007.14:g.41965353A>C	gnomAD
GLI3	P10071	p.Ser1240Thr	rs1346236253	missense variant	-	NC_000007.14:g.41965354C>G	gnomAD
GLI3	P10071	p.Asn1242Ile	rs1321006088	missense variant	-	NC_000007.14:g.41965348T>A	gnomAD
GLI3	P10071	p.Asn1242Tyr	rs1224916654	missense variant	-	NC_000007.14:g.41965349T>A	gnomAD
GLI3	P10071	p.Ala1243Thr	rs1404736446	missense variant	-	NC_000007.14:g.41965346C>T	TOPMed
GLI3	P10071	p.His1245Asn	rs767880494	missense variant	-	NC_000007.14:g.41965340G>T	ExAC,gnomAD
GLI3	P10071	p.His1245Pro	rs372740903	missense variant	-	NC_000007.14:g.41965339T>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.His1245Arg	rs372740903	missense variant	-	NC_000007.14:g.41965339T>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1247Arg	rs774937321	missense variant	-	NC_000007.14:g.41965333T>C	ExAC,gnomAD
GLI3	P10071	p.Gln1247His	rs769289785	missense variant	-	NC_000007.14:g.41965332C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1248Leu	rs745366777	missense variant	-	NC_000007.14:g.41965330G>A	ExAC,gnomAD
GLI3	P10071	p.Cys1249Tyr	rs770466498	missense variant	-	NC_000007.14:g.41965327C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Cys1249Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965328A>C	NCI-TCGA
GLI3	P10071	p.Ala1251Ser	rs746634828	missense variant	-	NC_000007.14:g.41965322C>A	ExAC,gnomAD
GLI3	P10071	p.Pro1252Leu	rs777315739	missense variant	-	NC_000007.14:g.41965318G>A	ExAC,gnomAD
GLI3	P10071	p.Pro1252Arg	rs777315739	missense variant	-	NC_000007.14:g.41965318G>C	ExAC,gnomAD
GLI3	P10071	p.Pro1252ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.41965318G>-	NCI-TCGA
GLI3	P10071	p.Gln1253Glu	rs747943352	missense variant	-	NC_000007.14:g.41965316G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1255Glu	rs760922857	missense variant	-	NC_000007.14:g.41965309C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Cys1257Arg	rs766488908	missense variant	-	NC_000007.14:g.41965304A>G	ExAC,gnomAD
GLI3	P10071	p.Leu1258Ter	RCV000520565	frameshift	-	NC_000007.14:g.41965302del	ClinVar
GLI3	P10071	p.Leu1258Phe	rs754908186	missense variant	-	NC_000007.14:g.41965301G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1258Val	rs754908186	missense variant	-	NC_000007.14:g.41965301G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1258Val	RCV000252349	missense variant	-	NC_000007.14:g.41965301G>C	ClinVar
GLI3	P10071	p.Arg1260Gly	rs1204289949	missense variant	-	NC_000007.14:g.41965295T>C	TOPMed
GLI3	P10071	p.Gln1261His	COSM1089643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965290C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Pro1262Ala	rs1352265362	missense variant	-	NC_000007.14:g.41965289G>C	gnomAD
GLI3	P10071	p.Ala1264Thr	rs141285034	missense variant	-	NC_000007.14:g.41965283C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1265Ser	rs763601702	missense variant	-	NC_000007.14:g.41965280G>A	ExAC,gnomAD
GLI3	P10071	p.Pro1265His	rs1338386150	missense variant	-	NC_000007.14:g.41965279G>T	gnomAD
GLI3	P10071	p.Ala1267Thr	rs776248419	missense variant	-	NC_000007.14:g.41965274C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1268Phe	rs770427902	missense variant	-	NC_000007.14:g.41965271G>A	ExAC,TOPMed
GLI3	P10071	p.Asp1269Asn	rs570240783	missense variant	-	NC_000007.14:g.41965268C>T	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Asp1269His	rs570240783	missense variant	-	NC_000007.14:g.41965268C>G	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Asp1269Glu	rs771688946	missense variant	-	NC_000007.14:g.41965266G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1270Arg	rs747928273	missense variant	-	NC_000007.14:g.41965265C>G	ExAC,gnomAD
GLI3	P10071	p.Gly1270Asp	rs778732599	missense variant	-	NC_000007.14:g.41965264C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1271Pro	rs754881398	missense variant	-	NC_000007.14:g.41965262C>G	ExAC,gnomAD
GLI3	P10071	p.Gly1273Asp	rs779875007	missense variant	-	NC_000007.14:g.41965255C>T	ExAC,gnomAD
GLI3	P10071	p.Gly1273Val	rs779875007	missense variant	-	NC_000007.14:g.41965255C>A	ExAC,gnomAD
GLI3	P10071	p.Ala1274Ser	rs1288586938	missense variant	-	NC_000007.14:g.41965253C>A	TOPMed
GLI3	P10071	p.Gly1275Arg	rs756156901	missense variant	-	NC_000007.14:g.41965250C>T	ExAC,gnomAD
GLI3	P10071	p.Gly1275Arg	RCV000534571	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965250C>T	ClinVar
GLI3	P10071	p.Gln1277Arg	rs1204045695	missense variant	-	NC_000007.14:g.41965243T>C	gnomAD
GLI3	P10071	p.Gln1277Glu	rs146582871	missense variant	-	NC_000007.14:g.41965244G>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1277Glu	RCV000725297	missense variant	-	NC_000007.14:g.41965244G>C	ClinVar
GLI3	P10071	p.Ala1278Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965241C>T	NCI-TCGA
GLI3	P10071	p.Leu1281Met	rs1359999993	missense variant	-	NC_000007.14:g.41965232G>T	TOPMed,gnomAD
GLI3	P10071	p.Ser1283Asn	rs781471350	missense variant	-	NC_000007.14:g.41965225C>T	ExAC,gnomAD
GLI3	P10071	p.Ser1283Ile	rs781471350	missense variant	-	NC_000007.14:g.41965225C>A	ExAC,gnomAD
GLI3	P10071	p.Thr1284Ile	rs1345171343	missense variant	-	NC_000007.14:g.41965222G>A	TOPMed
GLI3	P10071	p.Pro1285His	COSM6177879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965219G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Met1286Ile	rs763434613	missense variant	-	NC_000007.14:g.41965215C>T	ExAC,gnomAD
GLI3	P10071	p.Met1286Leu	rs764591572	missense variant	-	NC_000007.14:g.41965217T>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1287Arg	rs1172591811	missense variant	-	NC_000007.14:g.41965213T>C	TOPMed,gnomAD
GLI3	P10071	p.Gly1288Arg	rs753200070	missense variant	-	NC_000007.14:g.41965211C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1289Asn	rs772658766	missense variant	-	NC_000007.14:g.41965207C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1289Thr	rs772658766	missense variant	-	NC_000007.14:g.41965207C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1290Glu	rs771738131	missense variant	-	NC_000007.14:g.41965204C>T	ExAC,gnomAD
GLI3	P10071	p.Gly1291Ser	rs369278164	missense variant	-	NC_000007.14:g.41965202C>T	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Gly1291Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965202C>A	NCI-TCGA
GLI3	P10071	p.Gly1291Asp	rs768388156	missense variant	-	NC_000007.14:g.41965201C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1292Arg	rs749093099	missense variant	-	NC_000007.14:g.41965198T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1293Met	rs1476153727	missense variant	-	NC_000007.14:g.41965196G>T	TOPMed,gnomAD
GLI3	P10071	p.Leu1293Val	rs1476153727	missense variant	-	NC_000007.14:g.41965196G>C	TOPMed,gnomAD
GLI3	P10071	p.Phe1295Leu	COSM3923618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965188G>C	NCI-TCGA Cosmic
GLI3	P10071	p.Pro1298Arg	rs182571462	missense variant	-	NC_000007.14:g.41965180G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1298Gln	rs182571462	missense variant	-	NC_000007.14:g.41965180G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1298Leu	rs182571462	missense variant	-	NC_000007.14:g.41965180G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1300Val	rs751790458	missense variant	-	NC_000007.14:g.41965174G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1300Thr	rs1021825208	missense variant	-	NC_000007.14:g.41965175C>T	TOPMed
GLI3	P10071	p.Asn1302Ter	RCV000700476	frameshift	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965161_41965169delinsA	ClinVar
GLI3	P10071	p.Glu1303Lys	rs1318242966	missense variant	-	NC_000007.14:g.41965166C>T	gnomAD
GLI3	P10071	p.Ser1304Pro	rs1277170270	missense variant	-	NC_000007.14:g.41965163A>G	gnomAD
GLI3	P10071	p.Ser1304Pro	rs1277170270	missense variant	-	NC_000007.14:g.41965163A>G	UniProt,dbSNP
GLI3	P10071	p.Ser1304Pro	VAR_035561	missense variant	-	NC_000007.14:g.41965163A>G	UniProt
GLI3	P10071	p.Ala1305Thr	rs753070155	missense variant	-	NC_000007.14:g.41965160C>T	ExAC,gnomAD
GLI3	P10071	p.Ala1305Asp	rs765762605	missense variant	-	NC_000007.14:g.41965159G>T	ExAC,gnomAD
GLI3	P10071	p.Met1308Leu	rs760013628	missense variant	-	NC_000007.14:g.41965151T>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn1310Asp	rs1398555539	missense variant	-	NC_000007.14:g.41965145T>C	gnomAD
GLI3	P10071	p.Met1312Lys	rs199875457	missense variant	-	NC_000007.14:g.41965138A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1312Arg	rs199875457	missense variant	-	NC_000007.14:g.41965138A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1312Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965137C>A	NCI-TCGA
GLI3	P10071	p.Met1312Arg	RCV000354909	missense variant	-	NC_000007.14:g.41965138A>C	ClinVar
GLI3	P10071	p.Gln1313Ter	COSM1089637	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41965136G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Gln1315Lys	COSM3995581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41965130G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Asp1316Asn	rs766899370	missense variant	-	NC_000007.14:g.41965127C>T	ExAC,gnomAD
GLI3	P10071	p.Val1318Met	rs1047368657	missense variant	-	NC_000007.14:g.41965121C>T	TOPMed
GLI3	P10071	p.Gly1319Glu	rs1031440709	missense variant	-	NC_000007.14:g.41965117C>T	TOPMed,gnomAD
GLI3	P10071	p.Gly1321Glu	rs775206253	missense variant	-	NC_000007.14:g.41965111C>T	ExAC,gnomAD
GLI3	P10071	p.Gly1321Trp	rs762728014	missense variant	-	NC_000007.14:g.41965112C>A	ExAC,gnomAD
GLI3	P10071	p.Leu1323Arg	rs1223331944	missense variant	-	NC_000007.14:g.41965105A>C	TOPMed
GLI3	P10071	p.Ala1324Gly	rs372243067	missense variant	-	NC_000007.14:g.41965102G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1324Pro	rs1480007692	missense variant	-	NC_000007.14:g.41965103C>G	TOPMed
GLI3	P10071	p.Ala1324Pro	RCV000500051	missense variant	-	NC_000007.14:g.41965103C>G	ClinVar
GLI3	P10071	p.Gln1326Lys	rs1196656787	missense variant	-	NC_000007.14:g.41965097G>T	gnomAD
GLI3	P10071	p.Leu1328Phe	rs781219020	missense variant	-	NC_000007.14:g.41965091G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1329Cys	rs565405275	missense variant	-	NC_000007.14:g.41965088C>A	1000Genomes,gnomAD
GLI3	P10071	p.Gly1329Ser	rs565405275	missense variant	-	NC_000007.14:g.41965088C>T	1000Genomes,gnomAD
GLI3	P10071	p.Asp1330Asn	rs1272529879	missense variant	-	NC_000007.14:g.41965085C>T	gnomAD
GLI3	P10071	p.Asp1330His	rs1272529879	missense variant	-	NC_000007.14:g.41965085C>G	gnomAD
GLI3	P10071	p.Ser1331Asn	rs778137095	missense variant	-	NC_000007.14:g.41965081C>T	ExAC,gnomAD
GLI3	P10071	p.del1334AspSerGluLysProTerSerIle	rs1325961400	stop gained	-	NC_000007.14:g.41965073_41965074insAATACTTTAGGGTTTTTCAGAGTC	gnomAD
GLI3	P10071	p.Pro1335Leu	rs201047754	missense variant	-	NC_000007.14:g.41965069G>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Pro1335Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41965070G>T	NCI-TCGA
GLI3	P10071	p.Gly1336Glu	rs35280470	missense variant	-	NC_000007.14:g.41965066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1336Glu	rs35280470	missense variant	-	NC_000007.14:g.41965066C>T	UniProt,dbSNP
GLI3	P10071	p.Gly1336Glu	VAR_034865	missense variant	-	NC_000007.14:g.41965066C>T	UniProt
GLI3	P10071	p.Gly1336GluSer	RCV000723114	missense variant	-	NC_000007.14:g.41965064_41965066delinsACT	ClinVar
GLI3	P10071	p.Gly1336Glu	RCV000335523	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41965066C>T	ClinVar
GLI3	P10071	p.Gly1336Glu	RCV000401764	missense variant	Polydactyly	NC_000007.14:g.41965066C>T	ClinVar
GLI3	P10071	p.Gly1336Glu	RCV000280581	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41965066C>T	ClinVar
GLI3	P10071	p.Ala1337Ser	rs754252606	missense variant	-	NC_000007.14:g.41965064C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg1339His	rs756685313	missense variant	-	NC_000007.14:g.41965057C>T	ExAC,gnomAD
GLI3	P10071	p.Arg1339Cys	rs766881333	missense variant	-	NC_000007.14:g.41965058G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1340His	rs1173615111	missense variant	-	NC_000007.14:g.41965054G>T	gnomAD
GLI3	P10071	p.Gly1341Ser	rs775322839	missense variant	-	NC_000007.14:g.41965052C>T	ExAC,gnomAD
GLI3	P10071	p.Gln1342Arg	rs1450363833	missense variant	-	NC_000007.14:g.41965048T>C	TOPMed
GLI3	P10071	p.Gln1343Lys	rs1178924758	missense variant	-	NC_000007.14:g.41965046G>T	gnomAD
GLI3	P10071	p.Gln1343His	rs1314036949	missense variant	-	NC_000007.14:g.41965044C>G	TOPMed
GLI3	P10071	p.Met1344Ile	rs764900620	missense variant	-	NC_000007.14:g.41965041C>T	ExAC,gnomAD
GLI3	P10071	p.Leu1345Pro	rs776365660	missense variant	-	NC_000007.14:g.41965039A>G	ExAC,gnomAD
GLI3	P10071	p.Leu1345Phe	rs759397492	missense variant	-	NC_000007.14:g.41965040G>A	ExAC,gnomAD
GLI3	P10071	p.Gly1346Glu	rs1229861911	missense variant	-	NC_000007.14:g.41965036C>T	TOPMed
GLI3	P10071	p.Gln1347Ter	rs1441813326	stop gained	-	NC_000007.14:g.41965034G>A	TOPMed,gnomAD
GLI3	P10071	p.Gln1347Lys	rs1441813326	missense variant	-	NC_000007.14:g.41965034G>T	TOPMed,gnomAD
GLI3	P10071	p.Ile1348Phe	rs1261567937	missense variant	-	NC_000007.14:g.41965031T>A	TOPMed,gnomAD
GLI3	P10071	p.Ile1348Val	rs1261567937	missense variant	-	NC_000007.14:g.41965031T>C	TOPMed,gnomAD
GLI3	P10071	p.Ser1349Asn	rs1222983446	missense variant	-	NC_000007.14:g.41965027C>T	gnomAD
GLI3	P10071	p.Ser1349ArgAlaAspTer	RCV000762450	nonsense	-	NC_000007.14:g.41965028_41965037dup	ClinVar
GLI3	P10071	p.Ala1350Gly	rs1317637777	missense variant	-	NC_000007.14:g.41965024G>C	gnomAD
GLI3	P10071	p.Ser1352Ter	COSM3880988	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41965018G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ile1354Met	rs368599551	missense variant	-	NC_000007.14:g.41965011G>C	ESP,TOPMed
GLI3	P10071	p.Tyr1357Phe	rs1222517821	missense variant	-	NC_000007.14:g.41965003T>A	gnomAD
GLI3	P10071	p.Gln1358Leu	rs374261741	missense variant	-	NC_000007.14:g.41965000T>A	ESP
GLI3	P10071	p.Gly1359Arg	rs773475774	missense variant	-	NC_000007.14:g.41964998C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1359Arg	rs773475774	missense variant	-	NC_000007.14:g.41964998C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1360Ser	rs1454968299	missense variant	-	NC_000007.14:g.41964995G>A	gnomAD
GLI3	P10071	p.Cys1363Ser	rs980107862	missense variant	-	NC_000007.14:g.41964985C>G	TOPMed,gnomAD
GLI3	P10071	p.Cys1363Tyr	rs980107862	missense variant	-	NC_000007.14:g.41964985C>T	TOPMed,gnomAD
GLI3	P10071	p.Gly1366Trp	rs755242942	missense variant	-	NC_000007.14:g.41964977C>A	ExAC,gnomAD
GLI3	P10071	p.Ala1367Val	rs749664633	missense variant	-	NC_000007.14:g.41964973G>A	ExAC,gnomAD
GLI3	P10071	p.His1368Tyr	rs1379634152	missense variant	-	NC_000007.14:g.41964971G>A	gnomAD
GLI3	P10071	p.Gly1369Ser	rs1446295282	missense variant	-	NC_000007.14:g.41964968C>T	gnomAD
GLI3	P10071	p.Gly1369Asp	COSM3638698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964967C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Gly1369Cys	COSM6110262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964968C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Gly1371Ser	rs756668987	missense variant	-	NC_000007.14:g.41964962C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1372Cys	rs1171394260	missense variant	-	NC_000007.14:g.41964959T>A	TOPMed
GLI3	P10071	p.Ser1372Arg	rs1200143961	missense variant	-	NC_000007.14:g.41964957G>C	TOPMed,gnomAD
GLI3	P10071	p.Pro1374Leu	rs538659797	missense variant	-	NC_000007.14:g.41964952G>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Arg1381Met	rs1335997799	missense variant	-	NC_000007.14:g.41964931C>A	TOPMed
GLI3	P10071	p.Gly1382Val	rs1064796822	missense variant	-	NC_000007.14:g.41964928C>A	gnomAD
GLI3	P10071	p.Gly1382Arg	rs1213743797	missense variant	-	NC_000007.14:g.41964929C>G	gnomAD
GLI3	P10071	p.Gly1382Asp	rs1064796822	missense variant	-	NC_000007.14:g.41964928C>T	gnomAD
GLI3	P10071	p.Gly1382Asp	RCV000483158	missense variant	-	NC_000007.14:g.41964928C>T	ClinVar
GLI3	P10071	p.Tyr1383Cys	rs894551472	missense variant	-	NC_000007.14:g.41964925T>C	TOPMed
GLI3	P10071	p.Gln1384Glu	rs757957544	missense variant	-	NC_000007.14:g.41964923G>C	ExAC,gnomAD
GLI3	P10071	p.Cys1386Trp	rs1381106015	missense variant	-	NC_000007.14:g.41964915A>C	gnomAD
GLI3	P10071	p.Ala1387Thr	rs764948143	missense variant	-	NC_000007.14:g.41964914C>T	ExAC,gnomAD
GLI3	P10071	p.Ala1387Ser	rs764948143	missense variant	-	NC_000007.14:g.41964914C>A	ExAC,gnomAD
GLI3	P10071	p.Ala1387Val	rs759246622	missense variant	-	NC_000007.14:g.41964913G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1387Asp	rs759246622	missense variant	-	NC_000007.14:g.41964913G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Phe1389Leu	rs760738429	missense variant	-	NC_000007.14:g.41964906A>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Phe1389Leu	rs766399192	missense variant	-	NC_000007.14:g.41964908A>G	ExAC,gnomAD
GLI3	P10071	p.Gly1390Arg	rs142696576	missense variant	-	NC_000007.14:g.41964905C>T	ESP,TOPMed,gnomAD
GLI3	P10071	p.Gly1390Arg	rs142696576	missense variant	-	NC_000007.14:g.41964905C>G	ESP,TOPMed,gnomAD
GLI3	P10071	p.Gly1390Trp	COSM6110263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964905C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Gly1391Ser	rs1359819839	missense variant	-	NC_000007.14:g.41964902C>T	gnomAD
GLI3	P10071	p.Gly1391Asp	rs1164177317	missense variant	-	NC_000007.14:g.41964901C>T	gnomAD
GLI3	P10071	p.Ser1392Ile	rs773316349	missense variant	-	NC_000007.14:g.41964898C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1392Asn	rs773316349	missense variant	-	NC_000007.14:g.41964898C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1392Arg	COSM3880986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964897G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Arg1394Cys	rs577664817	missense variant	-	NC_000007.14:g.41964893G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg1394Leu	rs1443523787	missense variant	-	NC_000007.14:g.41964892C>A	TOPMed
GLI3	P10071	p.Arg1394His	COSM4687142	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964892C>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ala1396Asp	rs373003816	missense variant	-	NC_000007.14:g.41964886G>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1396Pro	rs1244511121	missense variant	-	NC_000007.14:g.41964887C>G	gnomAD
GLI3	P10071	p.Met1397Leu	rs768985955	missense variant	-	NC_000007.14:g.41964884T>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1397Val	rs768985955	missense variant	-	NC_000007.14:g.41964884T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1398Leu	rs749600708	missense variant	-	NC_000007.14:g.41964880G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1400Gly	rs1331393184	missense variant	-	NC_000007.14:g.41964874T>C	gnomAD
GLI3	P10071	p.Ser1401Thr	rs780442354	missense variant	-	NC_000007.14:g.41964871C>G	ExAC,gnomAD
GLI3	P10071	p.Ser1401Arg	rs770253341	missense variant	-	NC_000007.14:g.41964870G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1401Asn	rs780442354	missense variant	-	NC_000007.14:g.41964871C>T	ExAC,gnomAD
GLI3	P10071	p.Ala1403Asp	rs1479484705	missense variant	-	NC_000007.14:g.41964865G>T	TOPMed
GLI3	P10071	p.Ala1403Val	COSM1450709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964865G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Leu1404Gln	COSM4831328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964862A>T	NCI-TCGA Cosmic
GLI3	P10071	p.Gln1405His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964858C>A	NCI-TCGA
GLI3	P10071	p.Leu1409Phe	rs556261915	missense variant	-	NC_000007.14:g.41964848G>A	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.Ser1410Arg	rs757787594	missense variant	-	NC_000007.14:g.41964843A>C	ExAC,gnomAD
GLI3	P10071	p.Asp1411Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964842C>T	NCI-TCGA
GLI3	P10071	p.Thr1412Ala	rs752320089	missense variant	-	NC_000007.14:g.41964839T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr1412Arg	rs1379996536	missense variant	-	NC_000007.14:g.41964838G>C	gnomAD
GLI3	P10071	p.Thr1412Ser	rs752320089	missense variant	-	NC_000007.14:g.41964839T>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1413Gly	rs1339336770	missense variant	-	NC_000007.14:g.41964836T>C	gnomAD
GLI3	P10071	p.Cys1416Arg	rs1406656790	missense variant	-	NC_000007.14:g.41964827A>G	gnomAD
GLI3	P10071	p.Cys1416Phe	rs754711120	missense variant	-	NC_000007.14:g.41964826C>A	ExAC,gnomAD
GLI3	P10071	p.Cys1416Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964826C>T	NCI-TCGA
GLI3	P10071	p.Val1418Ala	rs1162374884	missense variant	-	NC_000007.14:g.41964820A>G	gnomAD
GLI3	P10071	p.Gly1420Ser	rs753656456	missense variant	-	NC_000007.14:g.41964815C>T	ExAC,gnomAD
GLI3	P10071	p.Lys1422Arg	rs1168659800	missense variant	-	NC_000007.14:g.41964808T>C	gnomAD
GLI3	P10071	p.Met1423Ile	rs1477628492	missense variant	-	NC_000007.14:g.41964804C>T	gnomAD
GLI3	P10071	p.Met1425Val	rs1269648256	missense variant	-	NC_000007.14:g.41964800T>C	gnomAD
GLI3	P10071	p.Lys1426Ile	rs769269390	missense variant	-	NC_000007.14:g.41964796T>A	ExAC
GLI3	P10071	p.Gln1428His	rs767497727	missense variant	-	NC_000007.14:g.41964789C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1428Pro	rs750332096	missense variant	-	NC_000007.14:g.41964790T>G	ExAC,gnomAD
GLI3	P10071	p.Pro1429Thr	rs986970840	missense variant	-	NC_000007.14:g.41964788G>T	TOPMed
GLI3	P10071	p.Pro1431Leu	rs144128064	missense variant	-	NC_000007.14:g.41964781G>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1431Arg	rs144128064	missense variant	-	NC_000007.14:g.41964781G>C	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Pro1431Gln	COSM6177880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964781G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ser1434Tyr	rs775718988	missense variant	-	NC_000007.14:g.41964772G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn1435Ser	rs1316958653	missense variant	-	NC_000007.14:g.41964769T>C	gnomAD
GLI3	P10071	p.Leu1436Val	rs770095761	missense variant	-	NC_000007.14:g.41964767G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1437His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964762C>A	NCI-TCGA
GLI3	P10071	p.Asn1438Thr	COSM3880985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964760T>G	NCI-TCGA Cosmic
GLI3	P10071	p.Tyr1439Cys	rs781662679	missense variant	-	NC_000007.14:g.41964757T>C	ExAC,gnomAD
GLI3	P10071	p.Tyr1439Ter	RCV000760565	nonsense	-	NC_000007.14:g.41964756G>T	ClinVar
GLI3	P10071	p.Ser1440Phe	rs1322853301	missense variant	-	NC_000007.14:g.41964754G>A	gnomAD
GLI3	P10071	p.Ser1440Tyr	COSM4911523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964754G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Gly1441Asp	rs771527522	missense variant	-	NC_000007.14:g.41964751C>T	ExAC,gnomAD
GLI3	P10071	p.Gln1442His	rs1398297485	missense variant	-	NC_000007.14:g.41964747C>G	gnomAD
GLI3	P10071	p.Phe1443Leu	COSM257026	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964744G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Tyr1444Cys	rs747590659	missense variant	-	NC_000007.14:g.41964742T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1445Asn	rs1378290549	missense variant	-	NC_000007.14:g.41964740C>T	TOPMed
GLI3	P10071	p.Val1448Met	rs778526954	missense variant	-	NC_000007.14:g.41964731C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1449Asp	rs1439808193	missense variant	-	NC_000007.14:g.41964727C>T	gnomAD
GLI3	P10071	p.Phe1450Cys	rs886042309	missense variant	-	NC_000007.14:g.41964724A>C	TOPMed
GLI3	P10071	p.Phe1450Cys	RCV000347627	missense variant	-	NC_000007.14:g.41964724A>C	ClinVar
GLI3	P10071	p.Phe1450Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964724A>G	NCI-TCGA
GLI3	P10071	p.Ser1451Ile	rs374978412	missense variant	-	NC_000007.14:g.41964721C>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1451Arg	rs753494256	missense variant	-	NC_000007.14:g.41964720A>C	ExAC,gnomAD
GLI3	P10071	p.Ser1451Asn	rs374978412	missense variant	-	NC_000007.14:g.41964721C>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1453Leu	rs1299834930	missense variant	-	NC_000007.14:g.41964715T>A	TOPMed
GLI3	P10071	p.Thr1455Arg	rs1016873543	missense variant	-	NC_000007.14:g.41964709G>C	TOPMed,gnomAD
GLI3	P10071	p.Thr1455Met	rs1016873543	missense variant	-	NC_000007.14:g.41964709G>A	TOPMed,gnomAD
GLI3	P10071	p.Lys1456Asn	rs1440080977	missense variant	-	NC_000007.14:g.41964705T>G	gnomAD
GLI3	P10071	p.Ala1457Val	rs199887017	missense variant	-	NC_000007.14:g.41964703G>A	1000Genomes,ExAC
GLI3	P10071	p.Ala1457Thr	rs1248816541	missense variant	-	NC_000007.14:g.41964704C>T	TOPMed,gnomAD
GLI3	P10071	p.Ala1457Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964704C>A	NCI-TCGA
GLI3	P10071	p.Ala1457Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964704C>G	NCI-TCGA
GLI3	P10071	p.Gly1458Val	rs767338817	missense variant	-	NC_000007.14:g.41964700C>A	ExAC
GLI3	P10071	p.Ser1461Phe	rs149543947	missense variant	-	NC_000007.14:g.41964691G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile1462Thr	rs371464477	missense variant	-	NC_000007.14:g.41964688A>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile1462Val	rs372000475	missense variant	-	NC_000007.14:g.41964689T>C	1000Genomes,gnomAD
GLI3	P10071	p.Asp1464Glu	rs566409623	missense variant	-	NC_000007.14:g.41964681G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1465Thr	rs1353649864	missense variant	-	NC_000007.14:g.41964680C>T	TOPMed
GLI3	P10071	p.Ser1466Thr	rs775631287	missense variant	-	NC_000007.14:g.41964676C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1466Ter	RCV000534797	frameshift	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41964679del	ClinVar
GLI3	P10071	p.Ser1466Asn	rs775631287	missense variant	-	NC_000007.14:g.41964676C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Cys1467Phe	rs770007515	missense variant	-	NC_000007.14:g.41964673C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Cys1467Tyr	rs770007515	missense variant	-	NC_000007.14:g.41964673C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gln1470Arg	rs923793927	missense variant	-	NC_000007.14:g.41964664T>C	TOPMed,gnomAD
GLI3	P10071	p.Ser1473Arg	rs1268398105	missense variant	-	NC_000007.14:g.41964654G>C	TOPMed
GLI3	P10071	p.Ala1474Thr	rs370009188	missense variant	-	NC_000007.14:g.41964653C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Lys1475Arg	rs771312835	missense variant	-	NC_000007.14:g.41964649T>C	ExAC,gnomAD
GLI3	P10071	p.Asn1476Ile	rs138100963	missense variant	-	NC_000007.14:g.41964646T>A	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asn1476Lys	rs773617369	missense variant	-	NC_000007.14:g.41964645G>T	ExAC,gnomAD
GLI3	P10071	p.Asn1476Thr	rs138100963	missense variant	-	NC_000007.14:g.41964646T>G	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu1478Lys	rs1241442383	missense variant	-	NC_000007.14:g.41964641C>T	TOPMed,gnomAD
GLI3	P10071	p.Glu1478Ter	RCV000656366	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41964642dup	ClinVar
GLI3	P10071	p.Glu1478Ter	RCV000634034	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41964642dup	ClinVar
GLI3	P10071	p.Glu1478Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964641C>G	NCI-TCGA
GLI3	P10071	p.Glu1478Ter	RCV000432432	nonsense	-	NC_000007.14:g.41964642dup	ClinVar
GLI3	P10071	p.Leu1479Ser	rs1057519504	missense variant	-	NC_000007.14:g.41964637A>G	-
GLI3	P10071	p.Leu1479Ser	RCV000416500	missense variant	Cronkhite-Canada syndrome	NC_000007.14:g.41964637A>G	ClinVar
GLI3	P10071	p.Pro1482Ala	rs748815553	missense variant	-	NC_000007.14:g.41964629G>C	ExAC,gnomAD
GLI3	P10071	p.Pro1482Leu	rs779851650	missense variant	-	NC_000007.14:g.41964628G>A	ExAC,gnomAD
GLI3	P10071	p.Pro1482Ser	COSM3638696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964629G>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ala1484Thr	rs1423837015	missense variant	-	NC_000007.14:g.41964623C>T	TOPMed
GLI3	P10071	p.Ala1484Val	rs1178398580	missense variant	-	NC_000007.14:g.41964622G>A	TOPMed,gnomAD
GLI3	P10071	p.Asn1485Lys	rs907289973	missense variant	-	NC_000007.14:g.41964618A>T	TOPMed,gnomAD
GLI3	P10071	p.Asn1485Ser	rs1445658158	missense variant	-	NC_000007.14:g.41964619T>C	gnomAD
GLI3	P10071	p.Thr1488Lys	rs1440361876	missense variant	-	NC_000007.14:g.41964610G>T	gnomAD
GLI3	P10071	p.Ser1489Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964607C>A	NCI-TCGA
GLI3	P10071	p.Val1491Glu	rs1205218613	missense variant	-	NC_000007.14:g.41964601A>T	gnomAD
GLI3	P10071	p.Asp1492Asn	rs1327637727	missense variant	-	NC_000007.14:g.41964599C>T	TOPMed
GLI3	P10071	p.Leu1494Phe	rs1352733591	missense variant	-	NC_000007.14:g.41964593G>A	gnomAD
GLI3	P10071	p.Leu1494Met	NCI-TCGA novel	insertion	-	NC_000007.14:g.41964590_41964591insCAT	NCI-TCGA
GLI3	P10071	p.Asp1495His	rs745631926	missense variant	-	NC_000007.14:g.41964590C>G	ExAC,gnomAD
GLI3	P10071	p.Asp1495Gly	rs1239124312	missense variant	-	NC_000007.14:g.41964589T>C	gnomAD
GLI3	P10071	p.Asp1495Asn	rs745631926	missense variant	-	NC_000007.14:g.41964590C>T	ExAC,gnomAD
GLI3	P10071	p.Ser1496Asn	rs532584303	missense variant	-	NC_000007.14:g.41964586C>T	1000Genomes,ExAC,gnomAD
GLI3	P10071	p.His1497Arg	rs1316925701	missense variant	-	NC_000007.14:g.41964583T>C	gnomAD
GLI3	P10071	p.Asp1498Glu	rs1448182088	missense variant	-	NC_000007.14:g.41964579G>T	TOPMed
GLI3	P10071	p.Glu1500Ter	RCV000686853	nonsense	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41964575C>A	ClinVar
GLI3	P10071	p.Gly1501Glu	rs1319000825	missense variant	-	NC_000007.14:g.41964571C>T	TOPMed,gnomAD
GLI3	P10071	p.Gly1501Trp	rs1340104531	missense variant	-	NC_000007.14:g.41964572C>A	gnomAD
GLI3	P10071	p.Gly1501Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964571C>A	NCI-TCGA
GLI3	P10071	p.Val1502Ile	rs1402584494	missense variant	-	NC_000007.14:g.41964569C>T	gnomAD
GLI3	P10071	p.Gln1503Leu	rs1359183911	missense variant	-	NC_000007.14:g.41964565T>A	TOPMed,gnomAD
GLI3	P10071	p.Ile1504Met	rs1387421330	missense variant	-	NC_000007.14:g.41964561A>C	TOPMed,gnomAD
GLI3	P10071	p.Ile1504Thr	rs1425867273	missense variant	-	NC_000007.14:g.41964562A>G	gnomAD
GLI3	P10071	p.Ile1504Leu	rs145419251	missense variant	-	NC_000007.14:g.41964563T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile1504Leu	RCV000547412	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41964563T>G	ClinVar
GLI3	P10071	p.Phe1506Ile	rs1358771484	missense variant	-	NC_000007.14:g.41964557A>T	TOPMed
GLI3	P10071	p.Asp1507Asn	rs763951987	missense variant	-	NC_000007.14:g.41964554C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1508Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964551C>T	NCI-TCGA
GLI3	P10071	p.Ile1509Val	rs372691047	missense variant	-	NC_000007.14:g.41964548T>C	ESP,ExAC,gnomAD
GLI3	P10071	p.Ile1510Val	rs776751129	missense variant	-	NC_000007.14:g.41964545T>C	ExAC,gnomAD
GLI3	P10071	p.Asp1511Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964542C>A	NCI-TCGA
GLI3	P10071	p.Asp1512Tyr	rs760962930	missense variant	-	NC_000007.14:g.41964539C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Asp1512Asn	rs760962930	missense variant	-	NC_000007.14:g.41964539C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Gly1513Val	rs772777499	missense variant	-	NC_000007.14:g.41964535C>A	ExAC,gnomAD
GLI3	P10071	p.Asp1514Glu	rs1271062368	missense variant	-	NC_000007.14:g.41964531G>C	gnomAD
GLI3	P10071	p.Ser1516Tyr	rs748790609	missense variant	-	NC_000007.14:g.41964526G>T	ExAC,gnomAD
GLI3	P10071	p.Met1519Thr	rs745490483	missense variant	-	NC_000007.14:g.41964517A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1519Ile	rs780729219	missense variant	-	NC_000007.14:g.41964516C>A	ExAC,gnomAD
GLI3	P10071	p.Ser1520Leu	rs1404556956	missense variant	-	NC_000007.14:g.41964514G>A	TOPMed,gnomAD
GLI3	P10071	p.Ala1522Pro	rs758379697	missense variant	-	NC_000007.14:g.41964509C>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1522Asp	rs1400373121	missense variant	-	NC_000007.14:g.41964508G>T	TOPMed
GLI3	P10071	p.Ala1522Ser	rs758379697	missense variant	-	NC_000007.14:g.41964509C>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1522Ser	RCV000528896	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41964509C>A	ClinVar
GLI3	P10071	p.Ala1522Thr	rs758379697	missense variant	-	NC_000007.14:g.41964509C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1523Val	rs1025821723	missense variant	-	NC_000007.14:g.41964506G>C	TOPMed
GLI3	P10071	p.Leu1523Met	rs1025821723	missense variant	-	NC_000007.14:g.41964506G>T	TOPMed
GLI3	P10071	p.Leu1523Arg	rs752743828	missense variant	-	NC_000007.14:g.41964505A>C	ExAC,gnomAD
GLI3	P10071	p.Ser1524Asn	rs765262389	missense variant	-	NC_000007.14:g.41964502C>T	ExAC,gnomAD
GLI3	P10071	p.Ser1524Thr	rs765262389	missense variant	-	NC_000007.14:g.41964502C>G	ExAC,gnomAD
GLI3	P10071	p.Pro1525Leu	rs754037065	missense variant	-	NC_000007.14:g.41964499G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1526Arg	rs898743387	missense variant	-	NC_000007.14:g.41964495A>C	TOPMed
GLI3	P10071	p.Ser1526Arg	rs761099870	missense variant	-	NC_000007.14:g.41964497T>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1526Gly	rs761099870	missense variant	-	NC_000007.14:g.41964497T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ile1527Thr	rs750815703	missense variant	-	NC_000007.14:g.41964493A>G	ExAC,gnomAD
GLI3	P10071	p.Ile1527Met	rs1219107613	missense variant	-	NC_000007.14:g.41964492G>C	gnomAD
GLI3	P10071	p.Asn1530Ile	rs1450865103	missense variant	-	NC_000007.14:g.41964484T>A	gnomAD
GLI3	P10071	p.His1533Pro	rs762445898	missense variant	-	NC_000007.14:g.41964475T>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.His1533Arg	rs762445898	missense variant	-	NC_000007.14:g.41964475T>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ser1535Phe	rs1224264770	missense variant	-	NC_000007.14:g.41964469G>A	gnomAD
GLI3	P10071	p.Ser1536Thr	rs75313224	missense variant	-	NC_000007.14:g.41964467A>T	-
GLI3	P10071	p.Ser1536Cys	rs758980438	missense variant	-	NC_000007.14:g.41964466G>C	ExAC,gnomAD
GLI3	P10071	p.Ser1536Thr	RCV000255680	missense variant	-	NC_000007.14:g.41964467A>T	ClinVar
GLI3	P10071	p.Arg1537His	rs746798261	missense variant	-	NC_000007.14:g.41964463C>T	ExAC,gnomAD
GLI3	P10071	p.Arg1537Cys	rs35364414	missense variant	-	NC_000007.14:g.41964464G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Arg1537Cys	RCV000274709	missense variant	Polydactyly	NC_000007.14:g.41964464G>A	ClinVar
GLI3	P10071	p.Arg1537Cys	RCV000373473	missense variant	Pallister-Hall syndrome (PHS)	NC_000007.14:g.41964464G>A	ClinVar
GLI3	P10071	p.Arg1537Cys	RCV000329797	missense variant	Greig cephalopolysyndactyly syndrome (GCPS)	NC_000007.14:g.41964464G>A	ClinVar
GLI3	P10071	p.Leu1538Phe	rs777586456	missense variant	-	NC_000007.14:g.41964461G>A	ExAC,gnomAD
GLI3	P10071	p.Thr1539Ala	rs771886604	missense variant	-	NC_000007.14:g.41964458T>C	ExAC,gnomAD
GLI3	P10071	p.Thr1540Lys	rs748031460	missense variant	-	NC_000007.14:g.41964454G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr1540Ala	rs1261154522	missense variant	-	NC_000007.14:g.41964455T>C	TOPMed
GLI3	P10071	p.Thr1540Met	rs748031460	missense variant	-	NC_000007.14:g.41964454G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Thr1540Lys	RCV000592798	missense variant	-	NC_000007.14:g.41964454G>T	ClinVar
GLI3	P10071	p.Arg1542Gly	rs755022753	missense variant	-	NC_000007.14:g.41964449G>C	ExAC,TOPMed
GLI3	P10071	p.Arg1542Trp	rs755022753	missense variant	-	NC_000007.14:g.41964449G>A	ExAC,TOPMed
GLI3	P10071	p.Arg1542Gln	rs1189345797	missense variant	-	NC_000007.14:g.41964448C>T	gnomAD
GLI3	P10071	p.Arg1542Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964448C>A	NCI-TCGA
GLI3	P10071	p.Ala1543Gly	COSM1089625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964445G>C	NCI-TCGA Cosmic
GLI3	P10071	p.Ser1544Cys	rs1478502813	missense variant	-	NC_000007.14:g.41964442G>C	TOPMed
GLI3	P10071	p.Ser1544Pro	rs1477673630	missense variant	-	NC_000007.14:g.41964443A>G	gnomAD
GLI3	P10071	p.Pro1546Ser	rs1173657852	missense variant	-	NC_000007.14:g.41964437G>A	TOPMed
GLI3	P10071	p.Phe1547Tyr	rs373789617	missense variant	-	NC_000007.14:g.41964433A>T	ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1549Val	rs1456600306	missense variant	-	NC_000007.14:g.41964427G>A	gnomAD
GLI3	P10071	p.Ala1549Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964427G>T	NCI-TCGA
GLI3	P10071	p.Leu1550Pro	rs756335435	missense variant	-	NC_000007.14:g.41964424A>G	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Leu1550Val	rs780314759	missense variant	-	NC_000007.14:g.41964425G>C	ExAC,gnomAD
GLI3	P10071	p.Ser1551Cys	rs1003879310	missense variant	-	NC_000007.14:g.41964421G>C	TOPMed,gnomAD
GLI3	P10071	p.Met1552Leu	rs151254859	missense variant	-	NC_000007.14:g.41964419T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1552Val	rs151254859	missense variant	-	NC_000007.14:g.41964419T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1552Ile	rs1219117446	missense variant	-	NC_000007.14:g.41964417C>T	gnomAD
GLI3	P10071	p.Ser1553Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964416T>C	NCI-TCGA
GLI3	P10071	p.Thr1554Ser	rs764701766	missense variant	-	NC_000007.14:g.41964412G>C	ExAC,gnomAD
GLI3	P10071	p.Thr1554Ile	rs764701766	missense variant	-	NC_000007.14:g.41964412G>A	ExAC,gnomAD
GLI3	P10071	p.Thr1555Ala	rs1445110024	missense variant	-	NC_000007.14:g.41964410T>C	gnomAD
GLI3	P10071	p.Thr1555Ile	rs759082153	missense variant	-	NC_000007.14:g.41964409G>A	ExAC,gnomAD
GLI3	P10071	p.Asn1556Thr	rs776061573	missense variant	-	NC_000007.14:g.41964406T>G	ExAC,gnomAD
GLI3	P10071	p.Asn1556Ter	RCV000478594	frameshift	-	NC_000007.14:g.41964409dup	ClinVar
GLI3	P10071	p.Met1557Val	rs1034910492	missense variant	-	NC_000007.14:g.41964404T>C	TOPMed
GLI3	P10071	p.Gly1560Arg	rs770587326	missense variant	-	NC_000007.14:g.41964395C>T	ExAC,gnomAD
GLI3	P10071	p.Met1562Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964388A>G	NCI-TCGA
GLI3	P10071	p.Ser1563Asn	rs143247740	missense variant	-	NC_000007.14:g.41964385C>T	ESP,ExAC,gnomAD
GLI3	P10071	p.Ser1563Arg	rs772874812	missense variant	-	NC_000007.14:g.41964386T>G	ExAC,gnomAD
GLI3	P10071	p.Ser1564Tyr	COSM1089623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964382G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ser1568Tyr	rs747943668	missense variant	-	NC_000007.14:g.41964370G>T	ExAC,gnomAD
GLI3	P10071	p.Ser1568Phe	rs747943668	missense variant	-	NC_000007.14:g.41964370G>A	ExAC,gnomAD
GLI3	P10071	p.Ala1570Val	rs41305933	missense variant	-	NC_000007.14:g.41964364G>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1570Gly	rs41305933	missense variant	-	NC_000007.14:g.41964364G>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Ala1570Glu	rs41305933	missense variant	-	NC_000007.14:g.41964364G>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu1571Gly	rs555888138	missense variant	-	NC_000007.14:g.41964361T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLI3	P10071	p.Glu1572Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.41964359C>A	NCI-TCGA
GLI3	P10071	p.Ser1573Arg	rs1209522560	missense variant	-	NC_000007.14:g.41964354G>C	gnomAD
GLI3	P10071	p.Lys1574Arg	rs1196568706	missense variant	-	NC_000007.14:g.41964352T>C	TOPMed
GLI3	P10071	p.Leu1576Val	rs1318035074	missense variant	-	NC_000007.14:g.41964347G>C	gnomAD
GLI3	P10071	p.Leu1576Ile	COSM3880984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964347G>T	NCI-TCGA Cosmic
GLI3	P10071	p.Ala1577Glu	rs1423877067	missense variant	-	NC_000007.14:g.41964343G>T	TOPMed
GLI3	P10071	p.Ala1577Ser	rs1287041517	missense variant	-	NC_000007.14:g.41964344C>A	gnomAD
GLI3	P10071	p.Ala1577Thr	rs1287041517	missense variant	-	NC_000007.14:g.41964344C>T	gnomAD
GLI3	P10071	p.Val1578Gly	rs757627430	missense variant	-	NC_000007.14:g.41964340A>C	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Val1578Ile	rs781575253	missense variant	-	NC_000007.14:g.41964341C>T	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1579Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.41964337A>G	NCI-TCGA
GLI3	P10071	p.Met1579Leu	rs764683606	missense variant	-	NC_000007.14:g.41964338T>A	ExAC,TOPMed,gnomAD
GLI3	P10071	p.Met1579Ile	COSM3431599	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.41964336C>A	NCI-TCGA Cosmic
GLI3	P10071	p.Ter1581GlnGluUnkThrTerUnkUnk	COSM3698389	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.41964332A>G	NCI-TCGA Cosmic
RARA	P10276	p.Ser3Asn	rs1403940287	missense variant	-	NC_000017.11:g.40331226G>A	gnomAD
RARA	P10276	p.Asn4His	rs759886628	missense variant	-	NC_000017.11:g.40331228A>C	ExAC,gnomAD
RARA	P10276	p.Ser5Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40331232G>A	NCI-TCGA
RARA	P10276	p.Ser6Asn	rs1173565250	missense variant	-	NC_000017.11:g.40331235G>A	TOPMed
RARA	P10276	p.Ser6Gly	rs1229353893	missense variant	-	NC_000017.11:g.40331234A>G	gnomAD
RARA	P10276	p.Ser7Cys	rs150291626	missense variant	-	NC_000017.11:g.40331238C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro9Leu	rs762408148	missense variant	-	NC_000017.11:g.40331244C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr10Ala	rs1419067649	missense variant	-	NC_000017.11:g.40331246A>G	TOPMed
RARA	P10276	p.Gly12Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40331252G>T	NCI-TCGA
RARA	P10276	p.Gly12Ala	rs137929765	missense variant	-	NC_000017.11:g.40331253G>C	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly13Asp	rs761512575	missense variant	-	NC_000017.11:g.40331256G>A	ExAC,gnomAD
RARA	P10276	p.His15Tyr	rs750162967	missense variant	-	NC_000017.11:g.40331261C>T	ExAC,gnomAD
RARA	P10276	p.Asn17Ser	rs368040095	missense variant	-	NC_000017.11:g.40331268A>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro20Ser	COSM6146637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40331276C>T	NCI-TCGA Cosmic
RARA	P10276	p.Pro20Ala	rs201015843	missense variant	-	NC_000017.11:g.40331276C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala25Ser	rs371882393	missense variant	-	NC_000017.11:g.40331291G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala25Thr	rs371882393	missense variant	-	NC_000017.11:g.40331291G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Phe26Leu	rs746187167	missense variant	-	NC_000017.11:g.40331296C>A	ExAC,gnomAD
RARA	P10276	p.Pro29His	rs1297897531	missense variant	-	NC_000017.11:g.40331304C>A	TOPMed,gnomAD
RARA	P10276	p.Pro29Ser	COSM3517013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40331303C>T	NCI-TCGA Cosmic
RARA	P10276	p.Pro30Ala	rs1371891710	missense variant	-	NC_000017.11:g.40331306C>G	gnomAD
RARA	P10276	p.Pro30LeuPheSerTerUnkUnk	COSM2838983	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.40331302C>-	NCI-TCGA Cosmic
RARA	P10276	p.Met31Val	rs1313589879	missense variant	-	NC_000017.11:g.40331309A>G	gnomAD
RARA	P10276	p.Met31Ile	rs1334285485	missense variant	-	NC_000017.11:g.40331311G>A	TOPMed
RARA	P10276	p.Leu32Met	rs775872347	missense variant	-	NC_000017.11:g.40331312C>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Leu32Arg	rs1402282746	missense variant	-	NC_000017.11:g.40331313T>G	TOPMed
RARA	P10276	p.Pro37Leu	rs561629991	missense variant	-	NC_000017.11:g.40331328C>T	1000Genomes,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala40Ser	rs576185106	missense variant	-	NC_000017.11:g.40331336G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala40Thr	rs576185106	missense variant	-	NC_000017.11:g.40331336G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala40Pro	rs576185106	missense variant	-	NC_000017.11:g.40331336G>C	ExAC,TOPMed,gnomAD
RARA	P10276	p.Leu41Val	rs138781565	missense variant	-	NC_000017.11:g.40331339C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr43Ser	rs116538651	missense variant	-	NC_000017.11:g.40331346C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Gln45His	rs1433348499	missense variant	-	NC_000017.11:g.40331353G>C	gnomAD
RARA	P10276	p.His46Gln	rs562304039	missense variant	-	NC_000017.11:g.40331356C>A	1000Genomes,ExAC,TOPMed,gnomAD
RARA	P10276	p.Gln47Ter	rs757297600	stop gained	-	NC_000017.11:g.40331357C>T	ExAC,gnomAD
RARA	P10276	p.Gly52Glu	rs781428265	missense variant	-	NC_000017.11:g.40331373G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr55Pro	rs756376800	missense variant	-	NC_000017.11:g.40331381A>C	ExAC,gnomAD
RARA	P10276	p.Thr55Ile	rs780381092	missense variant	-	NC_000017.11:g.40331382C>T	ExAC
RARA	P10276	p.Ser57Pro	rs200014376	missense variant	-	NC_000017.11:g.40331387T>C	ExAC,gnomAD
RARA	P10276	p.Ala59Thr	rs774732066	missense variant	-	NC_000017.11:g.40331393G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala59Ser	rs774732066	missense variant	-	NC_000017.11:g.40331393G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr60Asn	rs999607343	missense variant	-	NC_000017.11:g.40348316C>A	TOPMed
RARA	P10276	p.Ile61Thr	rs1410890791	missense variant	-	NC_000017.11:g.40348319T>C	gnomAD
RARA	P10276	p.Glu62Lys	rs753325918	missense variant	-	NC_000017.11:g.40348321G>A	ExAC,gnomAD
RARA	P10276	p.Ser65Ile	rs1398822077	missense variant	-	NC_000017.11:g.40348331G>T	gnomAD
RARA	P10276	p.Ile71Thr	rs533798657	missense variant	-	NC_000017.11:g.40348349T>C	1000Genomes,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser77Leu	rs1240210247	missense variant	-	NC_000017.11:g.40348367C>T	TOPMed
RARA	P10276	p.Pro78Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40348369C>T	NCI-TCGA
RARA	P10276	p.Pro79Ala	rs752378107	missense variant	-	NC_000017.11:g.40348372C>G	ExAC,gnomAD
RARA	P10276	p.Pro80Ala	rs777603974	missense variant	-	NC_000017.11:g.40348375C>G	ExAC,gnomAD
RARA	P10276	p.Leu81SerPheSerTerUnkUnk	COSM5139689	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.40348371_40348372insC	NCI-TCGA Cosmic
RARA	P10276	p.Pro82Leu	rs1294572459	missense variant	-	NC_000017.11:g.40348382C>T	gnomAD
RARA	P10276	p.Arg83His	rs751370458	missense variant	-	NC_000017.11:g.40348385G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg83Cys	rs1316046808	missense variant	-	NC_000017.11:g.40348384C>T	gnomAD
RARA	P10276	p.Tyr85Cys	rs781003431	missense variant	-	NC_000017.11:g.40348391A>G	ExAC,gnomAD
RARA	P10276	p.Cys91Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40348409G>A	NCI-TCGA
RARA	P10276	p.Lys94Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40348418A>G	NCI-TCGA
RARA	P10276	p.Ser96Ala	rs768888762	missense variant	-	NC_000017.11:g.40348423T>G	ExAC,gnomAD
RARA	P10276	p.Val102Ile	rs748355308	missense variant	-	NC_000017.11:g.40348441G>A	ExAC,gnomAD
RARA	P10276	p.Ser103Arg	rs148477186	missense variant	-	NC_000017.11:g.40348446C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala104Thr	rs773619675	missense variant	-	NC_000017.11:g.40348447G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Cys108Ser	COSM706469	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40348459T>A	NCI-TCGA Cosmic
RARA	P10276	p.Arg113Cys	rs779120079	missense variant	-	NC_000017.11:g.40349793C>T	ExAC,gnomAD
RARA	P10276	p.Arg114His	rs1280820027	missense variant	-	NC_000017.11:g.40349797G>A	gnomAD
RARA	P10276	p.Arg114Cys	rs1434179064	missense variant	-	NC_000017.11:g.40349796C>T	gnomAD
RARA	P10276	p.Met120Thr	rs1238728084	missense variant	-	NC_000017.11:g.40349815T>C	gnomAD
RARA	P10276	p.Tyr122Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40349821A>G	NCI-TCGA
RARA	P10276	p.Thr123Met	rs1031458847	missense variant	-	NC_000017.11:g.40349824C>T	TOPMed,gnomAD
RARA	P10276	p.Arg126Gln	rs367912717	missense variant	-	NC_000017.11:g.40349833G>A	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg126Trp	rs976474384	missense variant	-	NC_000017.11:g.40349832C>T	TOPMed
RARA	P10276	p.Ile131Val	rs747353115	missense variant	-	NC_000017.11:g.40349847A>G	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ile131Leu	rs747353115	missense variant	-	NC_000017.11:g.40349847A>C	ExAC,TOPMed,gnomAD
RARA	P10276	p.Asn133Asp	rs945569487	missense variant	-	NC_000017.11:g.40349853A>G	TOPMed
RARA	P10276	p.Lys134Asn	rs543704273	missense variant	-	NC_000017.11:g.40349858G>C	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Arg137Gln	rs1233921646	missense variant	-	NC_000017.11:g.40349866G>A	gnomAD
RARA	P10276	p.Arg139Cys	rs1454375439	missense variant	-	NC_000017.11:g.40349871C>T	TOPMed
RARA	P10276	p.Arg139His	rs565178707	missense variant	-	NC_000017.11:g.40349872G>A	1000Genomes,ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg139Ser	rs1454375439	missense variant	-	NC_000017.11:g.40349871C>A	TOPMed
RARA	P10276	p.Gln146Arg	COSM472726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40349893A>G	NCI-TCGA Cosmic
RARA	P10276	p.Glu150Asp	rs762461183	missense variant	-	NC_000017.11:g.40349906A>C	ExAC,gnomAD
RARA	P10276	p.Glu150Lys	rs1164026646	missense variant	-	NC_000017.11:g.40349904G>A	gnomAD
RARA	P10276	p.Val151Ala	rs1384825156	missense variant	-	NC_000017.11:g.40349908T>C	gnomAD
RARA	P10276	p.Val151Met	rs1436372199	missense variant	-	NC_000017.11:g.40349907G>A	TOPMed
RARA	P10276	p.Lys155Arg	rs773905498	missense variant	-	NC_000017.11:g.40349920A>G	ExAC,gnomAD
RARA	P10276	p.Ser157Pro	COSM1588843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40349925T>C	NCI-TCGA Cosmic
RARA	P10276	p.Asp161Glu	rs1292720890	missense variant	-	NC_000017.11:g.40351923C>A	gnomAD
RARA	P10276	p.Asp161Gly	rs780436052	missense variant	-	NC_000017.11:g.40351922A>G	ExAC
RARA	P10276	p.Arg162Ter	rs1322125255	stop gained	-	NC_000017.11:g.40351924C>T	gnomAD
RARA	P10276	p.Arg162Gln	rs749735817	missense variant	-	NC_000017.11:g.40351925G>A	ExAC,gnomAD
RARA	P10276	p.Lys164Asn	rs1481572813	missense variant	-	NC_000017.11:g.40351932G>C	gnomAD
RARA	P10276	p.Val169Leu	rs1437236573	missense variant	-	NC_000017.11:g.40351945G>T	gnomAD
RARA	P10276	p.Pro170Leu	rs747695319	missense variant	-	NC_000017.11:g.40351949C>T	ExAC,gnomAD
RARA	P10276	p.Lys171Glu	rs1427039505	missense variant	-	NC_000017.11:g.40351951A>G	TOPMed
RARA	P10276	p.Lys171Asn	rs1413996628	missense variant	-	NC_000017.11:g.40351953G>C	gnomAD
RARA	P10276	p.Pro172His	rs771789973	missense variant	-	NC_000017.11:g.40351955C>A	ExAC,gnomAD
RARA	P10276	p.Glu173Lys	rs369501728	missense variant	-	NC_000017.11:g.40351957G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Glu173Gln	rs369501728	missense variant	-	NC_000017.11:g.40351957G>C	ExAC,TOPMed,gnomAD
RARA	P10276	p.Cys174Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40351960T>A	NCI-TCGA
RARA	P10276	p.Ser175Phe	rs770822935	missense variant	-	NC_000017.11:g.40351964C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser177Gly	rs776543112	missense variant	-	NC_000017.11:g.40351969A>G	ExAC,gnomAD
RARA	P10276	p.Tyr178His	rs759379591	missense variant	-	NC_000017.11:g.40351972T>C	ExAC,gnomAD
RARA	P10276	p.Thr179Met	rs375401606	missense variant	-	NC_000017.11:g.40351976C>T	ESP,TOPMed,gnomAD
RARA	P10276	p.Thr181Met	rs367821941	missense variant	-	NC_000017.11:g.40351982C>T	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro182Leu	rs767684695	missense variant	-	NC_000017.11:g.40351985C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Val184Met	rs1480073657	missense variant	-	NC_000017.11:g.40351990G>A	gnomAD
RARA	P10276	p.Glu186Gln	rs1440999870	missense variant	-	NC_000017.11:g.40351996G>C	TOPMed
RARA	P10276	p.Glu189Lys	rs1456081508	missense variant	-	NC_000017.11:g.40352005G>A	gnomAD
RARA	P10276	p.Lys190Arg	rs780378953	missense variant	-	NC_000017.11:g.40352009A>G	ExAC,gnomAD
RARA	P10276	p.Val191SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.40352011_40352035GTGCGCAAAGCGCACCAGGAAACCT>-	NCI-TCGA
RARA	P10276	p.Arg192Cys	COSM5658255	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40352014C>T	NCI-TCGA Cosmic
RARA	P10276	p.Arg192His	rs754292583	missense variant	-	NC_000017.11:g.40352015G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Lys193Arg	rs755371276	missense variant	-	NC_000017.11:g.40352018A>G	ExAC,gnomAD
RARA	P10276	p.Ala194Val	rs779485530	missense variant	-	NC_000017.11:g.40352021C>T	ExAC,gnomAD
RARA	P10276	p.Ala194Thr	rs1180532434	missense variant	-	NC_000017.11:g.40352020G>A	gnomAD
RARA	P10276	p.His195Gln	rs771740867	missense variant	-	NC_000017.11:g.40352025C>A	ExAC,gnomAD
RARA	P10276	p.Gln196ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.40352024_40352025insC	NCI-TCGA
RARA	P10276	p.Gln196His	rs1422032918	missense variant	-	NC_000017.11:g.40352028G>C	gnomAD
RARA	P10276	p.Gln204Arg	rs1328721893	missense variant	-	NC_000017.11:g.40352051A>G	TOPMed
RARA	P10276	p.Thr210Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40352069C>T	NCI-TCGA
RARA	P10276	p.Thr210Ala	COSM472728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40352068A>G	NCI-TCGA Cosmic
RARA	P10276	p.Asn212Lys	rs1301972280	missense variant	-	NC_000017.11:g.40352336C>G	TOPMed,gnomAD
RARA	P10276	p.Ser214Leu	COSM3517016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40352341C>T	NCI-TCGA Cosmic
RARA	P10276	p.Glu215Gly	COSM472729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40352344A>G	NCI-TCGA Cosmic
RARA	P10276	p.Arg217Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40352350G>C	NCI-TCGA
RARA	P10276	p.Arg217Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40352349C>G	NCI-TCGA
RARA	P10276	p.Arg217Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40352349C>A	NCI-TCGA
RARA	P10276	p.Arg217Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40352349C>T	NCI-TCGA
RARA	P10276	p.Arg217His	COSM4995738	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40352350G>A	NCI-TCGA Cosmic
RARA	P10276	p.Ser219Tyr	COSM5126894	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40352356C>A	NCI-TCGA Cosmic
RARA	P10276	p.Trp225Arg	rs201919660	missense variant	-	NC_000017.11:g.40352373T>C	1000Genomes
RARA	P10276	p.Asp226Glu	rs1043230133	missense variant	-	NC_000017.11:g.40352378C>G	TOPMed
RARA	P10276	p.Asp226Val	rs745604036	missense variant	-	NC_000017.11:g.40352377A>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Lys227Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40352381G>T	NCI-TCGA
RARA	P10276	p.Ser232Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40352395C>A	NCI-TCGA
RARA	P10276	p.Cys235Ser	rs769597380	missense variant	-	NC_000017.11:g.40352403T>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr239Ser	rs1220464444	missense variant	-	NC_000017.11:g.40352416C>G	gnomAD
RARA	P10276	p.Val240Ala	rs775194260	missense variant	-	NC_000017.11:g.40352419T>C	ExAC,gnomAD
RARA	P10276	p.Ala243Ser	rs773208934	missense variant	-	NC_000017.11:g.40352427G>T	ExAC,gnomAD
RARA	P10276	p.Gly248Asp	rs200827868	missense variant	-	NC_000017.11:g.40352443G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly248Ser	rs373673287	missense variant	-	NC_000017.11:g.40352442G>A	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr250Ile	COSM4399066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40352449C>T	NCI-TCGA Cosmic
RARA	P10276	p.Thr253Asn	rs1298679769	missense variant	-	NC_000017.11:g.40352458C>A	TOPMed
RARA	P10276	p.Ala255Thr	rs758973243	missense variant	-	NC_000017.11:g.40352463G>A	ExAC,gnomAD
RARA	P10276	p.Asp256Tyr	COSM337029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40352466G>T	NCI-TCGA Cosmic
RARA	P10276	p.Asp256Asn	COSM3517018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40352466G>A	NCI-TCGA Cosmic
RARA	P10276	p.Ile258Val	rs1407524352	missense variant	-	NC_000017.11:g.40352472A>G	TOPMed
RARA	P10276	p.Thr259HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.40352473_40352474insA	NCI-TCGA
RARA	P10276	p.Arg272Gln	rs1457382271	missense variant	-	NC_000017.11:g.40354309G>A	gnomAD
RARA	P10276	p.Arg272Trp	COSM1382961	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40354308C>T	NCI-TCGA Cosmic
RARA	P10276	p.Thr275Met	rs757750800	missense variant	-	NC_000017.11:g.40354318C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg276Trp	RCV000171542	missense variant	-	NC_000017.11:g.40354320C>T	ClinVar
RARA	P10276	p.Arg276Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40354321G>A	NCI-TCGA
RARA	P10276	p.Arg276Trp	rs786205678	missense variant	-	NC_000017.11:g.40354320C>T	-
RARA	P10276	p.Glu280Lys	COSM5133155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40354332G>A	NCI-TCGA Cosmic
RARA	P10276	p.Gln281Glu	rs1367641937	missense variant	-	NC_000017.11:g.40354335C>G	gnomAD
RARA	P10276	p.Met284Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40354346G>A	NCI-TCGA
RARA	P10276	p.Thr285Ile	rs1471663982	missense variant	-	NC_000017.11:g.40354348C>T	gnomAD
RARA	P10276	p.Phe286Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40354350T>A	NCI-TCGA
RARA	P10276	p.Phe286Ser	COSM1479531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40354351T>C	NCI-TCGA Cosmic
RARA	P10276	p.Arg294Trp	COSM3356915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40354374C>T	NCI-TCGA Cosmic
RARA	P10276	p.Met297Ile	rs1328672864	missense variant	-	NC_000017.11:g.40354385G>T	gnomAD
RARA	P10276	p.Asn299Ser	COSM3795579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40354390A>G	NCI-TCGA Cosmic
RARA	P10276	p.Gly301Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40354396G>T	NCI-TCGA
RARA	P10276	p.Gly301Ala	rs1333053490	missense variant	-	NC_000017.11:g.40354396G>C	gnomAD
RARA	P10276	p.Gly303Ser	COSM4066169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40354401G>A	NCI-TCGA Cosmic
RARA	P10276	p.Leu305Val	rs374550237	missense variant	-	NC_000017.11:g.40354407C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Asp307Asn	rs763372641	missense variant	-	NC_000017.11:g.40354413G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Phe312Leu	rs1257809729	missense variant	-	NC_000017.11:g.40354428T>C	gnomAD
RARA	P10276	p.Ala313Val	rs762374504	missense variant	-	NC_000017.11:g.40354432C>T	ExAC,gnomAD
RARA	P10276	p.Pro318His	rs145829003	missense variant	-	NC_000017.11:g.40354447C>A	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro318Ser	COSM1382962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40354446C>T	NCI-TCGA Cosmic
RARA	P10276	p.Pro318Arg	rs145829003	missense variant	-	NC_000017.11:g.40354447C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Met321Ile	rs1477443305	missense variant	-	NC_000017.11:g.40354457G>A	gnomAD
RARA	P10276	p.Asp323Glu	rs148999974	missense variant	-	NC_000017.11:g.40354463T>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala324Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40354465C>T	NCI-TCGA
RARA	P10276	p.Ala324Thr	rs1219908764	missense variant	-	NC_000017.11:g.40354464G>A	TOPMed
RARA	P10276	p.Glu325Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40354469G>C	NCI-TCGA
RARA	P10276	p.Thr326Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40354470A>T	NCI-TCGA
RARA	P10276	p.Thr326Met	rs752501819	missense variant	-	NC_000017.11:g.40354471C>T	ExAC,gnomAD
RARA	P10276	p.Gly327Arg	rs1399533631	missense variant	-	NC_000017.11:g.40354473G>A	gnomAD
RARA	P10276	p.Ala331Ser	rs879250985	missense variant	-	NC_000017.11:g.40354485G>T	gnomAD
RARA	P10276	p.Ile332Val	rs1303998335	missense variant	-	NC_000017.11:g.40354488A>G	gnomAD
RARA	P10276	p.Cys336Tyr	rs774786141	missense variant	-	NC_000017.11:g.40354501G>A	ExAC,gnomAD
RARA	P10276	p.Cys336Phe	rs774786141	missense variant	-	NC_000017.11:g.40354501G>T	ExAC,gnomAD
RARA	P10276	p.Arg339Leu	rs1402577201	missense variant	-	NC_000017.11:g.40355266G>T	TOPMed,gnomAD
RARA	P10276	p.Arg339Cys	rs1416311365	missense variant	-	NC_000017.11:g.40355265C>T	TOPMed
RARA	P10276	p.Arg339His	rs1402577201	missense variant	-	NC_000017.11:g.40355266G>A	TOPMed,gnomAD
RARA	P10276	p.Pro345Leu	rs568539129	missense variant	-	NC_000017.11:g.40355284C>T	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Arg347Leu	rs762709825	missense variant	-	NC_000017.11:g.40355290G>T	ExAC,gnomAD
RARA	P10276	p.Arg347Trp	rs138717943	missense variant	-	NC_000017.11:g.40355289C>T	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg347Gln	rs762709825	missense variant	-	NC_000017.11:g.40355290G>A	ExAC,gnomAD
RARA	P10276	p.Val348Met	rs1244011629	missense variant	-	NC_000017.11:g.40355292G>A	gnomAD
RARA	P10276	p.Asp349Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40355296A>G	NCI-TCGA
RARA	P10276	p.Asp349Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40355295G>T	NCI-TCGA
RARA	P10276	p.Met350Val	rs1271139288	missense variant	-	NC_000017.11:g.40355298A>G	gnomAD
RARA	P10276	p.Met350Lys	rs1458722746	missense variant	-	NC_000017.11:g.40355299T>A	gnomAD
RARA	P10276	p.Leu351Gln	rs767570841	missense variant	-	NC_000017.11:g.40355302T>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Leu351Met	rs757192084	missense variant	-	NC_000017.11:g.40355301C>A	ExAC,gnomAD
RARA	P10276	p.Pro354Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40355311C>A	NCI-TCGA
RARA	P10276	p.Pro354Ser	rs755139197	missense variant	-	NC_000017.11:g.40355310C>T	ExAC,gnomAD
RARA	P10276	p.Ala358Glu	rs866375031	missense variant	-	NC_000017.11:g.40355323C>A	TOPMed,gnomAD
RARA	P10276	p.Ala358Val	rs866375031	missense variant	-	NC_000017.11:g.40355323C>T	TOPMed,gnomAD
RARA	P10276	p.Val363Leu	rs1290171091	missense variant	-	NC_000017.11:g.40355337G>C	TOPMed
RARA	P10276	p.Arg364Trp	rs758706699	missense variant	-	NC_000017.11:g.40355340C>T	ExAC,gnomAD
RARA	P10276	p.Arg364Gln	rs1353021557	missense variant	-	NC_000017.11:g.40355341G>A	gnomAD
RARA	P10276	p.Arg366Gln	rs777998360	missense variant	-	NC_000017.11:g.40355347G>A	ExAC,gnomAD
RARA	P10276	p.Arg367Thr	rs1213422214	missense variant	-	NC_000017.11:g.40355350G>C	TOPMed
RARA	P10276	p.Ser369Asn	rs771371291	missense variant	-	NC_000017.11:g.40355356G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser369Gly	rs1379648717	missense variant	-	NC_000017.11:g.40355355A>G	gnomAD
RARA	P10276	p.Ser369Ile	rs771371291	missense variant	-	NC_000017.11:g.40355356G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg370His	rs899025600	missense variant	-	NC_000017.11:g.40355359G>A	TOPMed,gnomAD
RARA	P10276	p.Arg370Cys	rs976585948	missense variant	-	NC_000017.11:g.40355358C>T	TOPMed,gnomAD
RARA	P10276	p.Pro371Leu	rs1256836398	missense variant	-	NC_000017.11:g.40355362C>T	gnomAD
RARA	P10276	p.Pro371Ser	rs777149587	missense variant	-	NC_000017.11:g.40355361C>T	ExAC,gnomAD
RARA	P10276	p.His372Asn	rs745346700	missense variant	-	NC_000017.11:g.40355364C>A	ExAC,gnomAD
RARA	P10276	p.Met373Val	rs954829630	missense variant	-	NC_000017.11:g.40355367A>G	TOPMed,gnomAD
RARA	P10276	p.Met377Leu	rs1434768657	missense variant	-	NC_000017.11:g.40355379A>T	TOPMed
RARA	P10276	p.Met379Leu	rs1186254491	missense variant	-	NC_000017.11:g.40355385A>T	gnomAD
RARA	P10276	p.Lys380Asn	COSM76167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40355390G>C	NCI-TCGA Cosmic
RARA	P10276	p.Ile381Val	rs769158319	missense variant	-	NC_000017.11:g.40355391A>G	ExAC,gnomAD
RARA	P10276	p.Thr382Ile	rs1165788898	missense variant	-	NC_000017.11:g.40355395C>T	TOPMed
RARA	P10276	p.Arg385Gln	rs775118101	missense variant	-	NC_000017.11:g.40355404G>A	ExAC,gnomAD
RARA	P10276	p.Ser386Asn	rs1417493977	missense variant	-	NC_000017.11:g.40355407G>A	gnomAD
RARA	P10276	p.Ile387Val	rs376831612	missense variant	-	NC_000017.11:g.40355409A>G	ESP,ExAC,gnomAD
RARA	P10276	p.Ala389Thr	rs773956341	missense variant	-	NC_000017.11:g.40355415G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly391Ala	rs1381078028	missense variant	-	NC_000017.11:g.40356009G>C	gnomAD
RARA	P10276	p.Gly391Glu	rs1381078028	missense variant	-	NC_000017.11:g.40356009G>A	gnomAD
RARA	P10276	p.Ala392Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40356011G>T	NCI-TCGA
RARA	P10276	p.Ala392Thr	rs951728975	missense variant	-	NC_000017.11:g.40356011G>A	TOPMed
RARA	P10276	p.Glu393Lys	COSM4924070	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40356014G>A	NCI-TCGA Cosmic
RARA	P10276	p.Arg394Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.40356017C>T	NCI-TCGA
RARA	P10276	p.Arg394Leu	rs866777491	missense variant	-	NC_000017.11:g.40356018G>T	gnomAD
RARA	P10276	p.Arg394Gln	rs866777491	missense variant	-	NC_000017.11:g.40356018G>A	gnomAD
RARA	P10276	p.Thr397Ser	rs1199779742	missense variant	-	NC_000017.11:g.40356026A>T	TOPMed
RARA	P10276	p.Glu401Lys	rs898360191	missense variant	-	NC_000017.11:g.40356038G>A	gnomAD
RARA	P10276	p.Pro403Leu	rs762998209	missense variant	-	NC_000017.11:g.40356045C>T	TOPMed
RARA	P10276	p.Met406Ile	rs1377181510	missense variant	-	NC_000017.11:g.40356055G>A	gnomAD
RARA	P10276	p.Pro408His	rs1278125009	missense variant	-	NC_000017.11:g.40356060C>A	gnomAD
RARA	P10276	p.Leu409del	RCV000171543	stop lost	-	NC_000017.11:g.40356063_40356227del	ClinVar
RARA	P10276	p.Met413Ile	rs1467197849	missense variant	-	NC_000017.11:g.40356076G>A	gnomAD
RARA	P10276	p.Asn416Ser	rs1239076616	missense variant	-	NC_000017.11:g.40356084A>G	gnomAD
RARA	P10276	p.Glu418Lys	COSM417550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.40356089G>A	NCI-TCGA Cosmic
RARA	P10276	p.Asp421Glu	rs1230989677	missense variant	-	NC_000017.11:g.40356100C>A	gnomAD
RARA	P10276	p.Thr422Ser	rs1414395843	missense variant	-	NC_000017.11:g.40356102C>G	TOPMed
RARA	P10276	p.Thr422Ala	rs1400353822	missense variant	-	NC_000017.11:g.40356101A>G	TOPMed
RARA	P10276	p.Leu423Pro	rs768180703	missense variant	-	NC_000017.11:g.40356105T>C	ExAC,gnomAD
RARA	P10276	p.Ser424Thr	rs778615243	missense variant	-	NC_000017.11:g.40356108G>C	ExAC,gnomAD
RARA	P10276	p.Ser424Arg	rs747786910	missense variant	-	NC_000017.11:g.40356109C>G	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly425Arg	rs1400641137	missense variant	-	NC_000017.11:g.40356110G>A	TOPMed,gnomAD
RARA	P10276	p.Gln426Pro	rs1326400235	missense variant	-	NC_000017.11:g.40356114A>C	gnomAD
RARA	P10276	p.Gln426Lys	rs771916537	missense variant	-	NC_000017.11:g.40356113C>A	ExAC,gnomAD
RARA	P10276	p.Pro427Leu	rs1176965878	missense variant	-	NC_000017.11:g.40356117C>T	TOPMed
RARA	P10276	p.Pro427Ala	rs1379873029	missense variant	-	NC_000017.11:g.40356116C>G	TOPMed
RARA	P10276	p.Gly428Val	rs1293284406	missense variant	-	NC_000017.11:g.40356120G>T	gnomAD
RARA	P10276	p.Gly428Trp	rs1449127199	missense variant	-	NC_000017.11:g.40356119G>T	gnomAD
RARA	P10276	p.Gly428Arg	rs1449127199	missense variant	-	NC_000017.11:g.40356119G>A	gnomAD
RARA	P10276	p.Gly428Ala	rs1293284406	missense variant	-	NC_000017.11:g.40356120G>C	gnomAD
RARA	P10276	p.Gly429Cys	rs539116380	missense variant	-	NC_000017.11:g.40356122G>T	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Gly429ValPheSerTerUnkUnkUnk	COSM4614165	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.40356118G>-	NCI-TCGA Cosmic
RARA	P10276	p.Gly429Val	rs776663600	missense variant	-	NC_000017.11:g.40356123G>T	ExAC,gnomAD
RARA	P10276	p.Gly429Asp	rs776663600	missense variant	-	NC_000017.11:g.40356123G>A	ExAC,gnomAD
RARA	P10276	p.Gly430Ala	rs1194321465	missense variant	-	NC_000017.11:g.40356126G>C	gnomAD
RARA	P10276	p.Gly430Arg	rs759435121	missense variant	-	NC_000017.11:g.40356125G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly430Trp	rs759435121	missense variant	-	NC_000017.11:g.40356125G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly430Arg	rs759435121	missense variant	-	NC_000017.11:g.40356125G>C	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg432Leu	rs774473938	missense variant	-	NC_000017.11:g.40356132G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg432Gln	rs774473938	missense variant	-	NC_000017.11:g.40356132G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg432Trp	rs1188389540	missense variant	-	NC_000017.11:g.40356131C>T	TOPMed,gnomAD
RARA	P10276	p.Arg432Gly	rs1188389540	missense variant	-	NC_000017.11:g.40356131C>G	TOPMed,gnomAD
RARA	P10276	p.Asp433Glu	rs762021232	missense variant	-	NC_000017.11:g.40356136C>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Asp433Glu	rs762021232	missense variant	-	NC_000017.11:g.40356136C>G	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly434Glu	rs553921530	missense variant	-	NC_000017.11:g.40356138G>A	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Gly434Arg	rs1055195329	missense variant	-	NC_000017.11:g.40356137G>A	TOPMed,gnomAD
RARA	P10276	p.Gly434Arg	rs1055195329	missense variant	-	NC_000017.11:g.40356137G>C	TOPMed,gnomAD
RARA	P10276	p.Gly434Val	rs553921530	missense variant	-	NC_000017.11:g.40356138G>T	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Gly435Asp	rs1403898124	missense variant	-	NC_000017.11:g.40356141G>A	gnomAD
RARA	P10276	p.Gly436Ser	rs572392003	missense variant	-	NC_000017.11:g.40356143G>A	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Leu437Pro	rs1402428481	missense variant	-	NC_000017.11:g.40356147T>C	gnomAD
RARA	P10276	p.Ala438Val	rs950687847	missense variant	-	NC_000017.11:g.40356150C>T	TOPMed,gnomAD
RARA	P10276	p.Ala438Gly	rs950687847	missense variant	-	NC_000017.11:g.40356150C>G	TOPMed,gnomAD
RARA	P10276	p.Ala438Pro	rs1441911200	missense variant	-	NC_000017.11:g.40356149G>C	TOPMed,gnomAD
RARA	P10276	p.Pro439Ala	rs1014673601	missense variant	-	NC_000017.11:g.40356152C>G	TOPMed
RARA	P10276	p.Pro440Ser	rs1258058775	missense variant	-	NC_000017.11:g.40356155C>T	gnomAD
RARA	P10276	p.Pro440Leu	rs747666789	missense variant	-	NC_000017.11:g.40356156C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro440Arg	rs747666789	missense variant	-	NC_000017.11:g.40356156C>G	ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro441Ser	rs1279305609	missense variant	-	NC_000017.11:g.40356158C>T	gnomAD
RARA	P10276	p.Ser443Arg	rs1484545278	missense variant	-	NC_000017.11:g.40356166C>A	gnomAD
RARA	P10276	p.Cys444Tyr	rs1218734380	missense variant	-	NC_000017.11:g.40356168G>A	gnomAD
RARA	P10276	p.Ser445Arg	rs1408995903	missense variant	-	NC_000017.11:g.40356170A>C	TOPMed
RARA	P10276	p.Pro446Ser	rs746742357	missense variant	-	NC_000017.11:g.40356173C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser449Asn	rs1190379367	missense variant	-	NC_000017.11:g.40356183G>A	gnomAD
RARA	P10276	p.Pro450Leu	rs957564687	missense variant	-	NC_000017.11:g.40356186C>T	gnomAD
RARA	P10276	p.Ser451Asn	rs1172581482	missense variant	-	NC_000017.11:g.40356189G>A	TOPMed,gnomAD
RARA	P10276	p.Ser451Thr	rs1172581482	missense variant	-	NC_000017.11:g.40356189G>C	TOPMed,gnomAD
RARA	P10276	p.Pro457Leu	rs536574354	missense variant	-	NC_000017.11:g.40356207C>T	1000Genomes,TOPMed,gnomAD
RARA	P10276	p.Pro457Ser	rs1421848816	missense variant	-	NC_000017.11:g.40356206C>T	gnomAD
RARA	P10276	p.Pro457Ala	rs1421848816	missense variant	-	NC_000017.11:g.40356206C>G	gnomAD
RARA	P10276	p.Pro462Leu	rs770732457	missense variant	-	NC_000017.11:g.40356222C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ter463Gly	rs1233885208	stop lost	-	NC_000017.11:g.40356224T>G	gnomAD
RARA	P10276	p.Ser3Asn	rs1403940287	missense variant	-	NC_000017.11:g.40331226G>A	gnomAD
RARA	P10276	p.Asn4His	rs759886628	missense variant	-	NC_000017.11:g.40331228A>C	ExAC,gnomAD
RARA	P10276	p.Ser6Gly	rs1229353893	missense variant	-	NC_000017.11:g.40331234A>G	gnomAD
RARA	P10276	p.Ser6Asn	rs1173565250	missense variant	-	NC_000017.11:g.40331235G>A	TOPMed
RARA	P10276	p.Ser7Cys	rs150291626	missense variant	-	NC_000017.11:g.40331238C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro9Leu	rs762408148	missense variant	-	NC_000017.11:g.40331244C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr10Ala	rs1419067649	missense variant	-	NC_000017.11:g.40331246A>G	TOPMed
RARA	P10276	p.Gly12Ala	rs137929765	missense variant	-	NC_000017.11:g.40331253G>C	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly13Asp	rs761512575	missense variant	-	NC_000017.11:g.40331256G>A	ExAC,gnomAD
RARA	P10276	p.His15Tyr	rs750162967	missense variant	-	NC_000017.11:g.40331261C>T	ExAC,gnomAD
RARA	P10276	p.Asn17Ser	rs368040095	missense variant	-	NC_000017.11:g.40331268A>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro20Ala	rs201015843	missense variant	-	NC_000017.11:g.40331276C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala25Ser	rs371882393	missense variant	-	NC_000017.11:g.40331291G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala25Thr	rs371882393	missense variant	-	NC_000017.11:g.40331291G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Phe26Leu	rs746187167	missense variant	-	NC_000017.11:g.40331296C>A	ExAC,gnomAD
RARA	P10276	p.Pro29His	rs1297897531	missense variant	-	NC_000017.11:g.40331304C>A	TOPMed,gnomAD
RARA	P10276	p.Pro30Ala	rs1371891710	missense variant	-	NC_000017.11:g.40331306C>G	gnomAD
RARA	P10276	p.Met31Ile	rs1334285485	missense variant	-	NC_000017.11:g.40331311G>A	TOPMed
RARA	P10276	p.Met31Val	rs1313589879	missense variant	-	NC_000017.11:g.40331309A>G	gnomAD
RARA	P10276	p.Leu32Arg	rs1402282746	missense variant	-	NC_000017.11:g.40331313T>G	TOPMed
RARA	P10276	p.Leu32Met	rs775872347	missense variant	-	NC_000017.11:g.40331312C>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro37Leu	rs561629991	missense variant	-	NC_000017.11:g.40331328C>T	1000Genomes,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala40Ser	rs576185106	missense variant	-	NC_000017.11:g.40331336G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala40Thr	rs576185106	missense variant	-	NC_000017.11:g.40331336G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala40Pro	rs576185106	missense variant	-	NC_000017.11:g.40331336G>C	ExAC,TOPMed,gnomAD
RARA	P10276	p.Leu41Val	rs138781565	missense variant	-	NC_000017.11:g.40331339C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr43Ser	rs116538651	missense variant	-	NC_000017.11:g.40331346C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Gln45His	rs1433348499	missense variant	-	NC_000017.11:g.40331353G>C	gnomAD
RARA	P10276	p.His46Gln	rs562304039	missense variant	-	NC_000017.11:g.40331356C>A	1000Genomes,ExAC,TOPMed,gnomAD
RARA	P10276	p.Gln47Ter	rs757297600	stop gained	-	NC_000017.11:g.40331357C>T	ExAC,gnomAD
RARA	P10276	p.Gly52Glu	rs781428265	missense variant	-	NC_000017.11:g.40331373G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr55Pro	rs756376800	missense variant	-	NC_000017.11:g.40331381A>C	ExAC,gnomAD
RARA	P10276	p.Thr55Ile	rs780381092	missense variant	-	NC_000017.11:g.40331382C>T	ExAC
RARA	P10276	p.Ser57Pro	rs200014376	missense variant	-	NC_000017.11:g.40331387T>C	ExAC,gnomAD
RARA	P10276	p.Ala59Ser	rs774732066	missense variant	-	NC_000017.11:g.40331393G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala59Thr	rs774732066	missense variant	-	NC_000017.11:g.40331393G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr60Asn	rs999607343	missense variant	-	NC_000017.11:g.40348316C>A	TOPMed
RARA	P10276	p.Ile61Thr	rs1410890791	missense variant	-	NC_000017.11:g.40348319T>C	gnomAD
RARA	P10276	p.Glu62Lys	rs753325918	missense variant	-	NC_000017.11:g.40348321G>A	ExAC,gnomAD
RARA	P10276	p.Ser65Ile	rs1398822077	missense variant	-	NC_000017.11:g.40348331G>T	gnomAD
RARA	P10276	p.Ile71Thr	rs533798657	missense variant	-	NC_000017.11:g.40348349T>C	1000Genomes,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser77Leu	rs1240210247	missense variant	-	NC_000017.11:g.40348367C>T	TOPMed
RARA	P10276	p.Pro79Ala	rs752378107	missense variant	-	NC_000017.11:g.40348372C>G	ExAC,gnomAD
RARA	P10276	p.Pro80Ala	rs777603974	missense variant	-	NC_000017.11:g.40348375C>G	ExAC,gnomAD
RARA	P10276	p.Pro82Leu	rs1294572459	missense variant	-	NC_000017.11:g.40348382C>T	gnomAD
RARA	P10276	p.Arg83Cys	rs1316046808	missense variant	-	NC_000017.11:g.40348384C>T	gnomAD
RARA	P10276	p.Arg83His	rs751370458	missense variant	-	NC_000017.11:g.40348385G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Tyr85Cys	rs781003431	missense variant	-	NC_000017.11:g.40348391A>G	ExAC,gnomAD
RARA	P10276	p.Ser96Ala	rs768888762	missense variant	-	NC_000017.11:g.40348423T>G	ExAC,gnomAD
RARA	P10276	p.Val102Ile	rs748355308	missense variant	-	NC_000017.11:g.40348441G>A	ExAC,gnomAD
RARA	P10276	p.Ser103Arg	rs148477186	missense variant	-	NC_000017.11:g.40348446C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala104Thr	rs773619675	missense variant	-	NC_000017.11:g.40348447G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg113Cys	rs779120079	missense variant	-	NC_000017.11:g.40349793C>T	ExAC,gnomAD
RARA	P10276	p.Arg114Cys	rs1434179064	missense variant	-	NC_000017.11:g.40349796C>T	gnomAD
RARA	P10276	p.Arg114His	rs1280820027	missense variant	-	NC_000017.11:g.40349797G>A	gnomAD
RARA	P10276	p.Met120Thr	rs1238728084	missense variant	-	NC_000017.11:g.40349815T>C	gnomAD
RARA	P10276	p.Thr123Met	rs1031458847	missense variant	-	NC_000017.11:g.40349824C>T	TOPMed,gnomAD
RARA	P10276	p.Arg126Gln	rs367912717	missense variant	-	NC_000017.11:g.40349833G>A	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg126Trp	rs976474384	missense variant	-	NC_000017.11:g.40349832C>T	TOPMed
RARA	P10276	p.Ile131Val	rs747353115	missense variant	-	NC_000017.11:g.40349847A>G	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ile131Leu	rs747353115	missense variant	-	NC_000017.11:g.40349847A>C	ExAC,TOPMed,gnomAD
RARA	P10276	p.Asn133Asp	rs945569487	missense variant	-	NC_000017.11:g.40349853A>G	TOPMed
RARA	P10276	p.Lys134Asn	rs543704273	missense variant	-	NC_000017.11:g.40349858G>C	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Arg137Gln	rs1233921646	missense variant	-	NC_000017.11:g.40349866G>A	gnomAD
RARA	P10276	p.Arg139Cys	rs1454375439	missense variant	-	NC_000017.11:g.40349871C>T	TOPMed
RARA	P10276	p.Arg139His	rs565178707	missense variant	-	NC_000017.11:g.40349872G>A	1000Genomes,ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg139Ser	rs1454375439	missense variant	-	NC_000017.11:g.40349871C>A	TOPMed
RARA	P10276	p.Glu150Lys	rs1164026646	missense variant	-	NC_000017.11:g.40349904G>A	gnomAD
RARA	P10276	p.Glu150Asp	rs762461183	missense variant	-	NC_000017.11:g.40349906A>C	ExAC,gnomAD
RARA	P10276	p.Val151Ala	rs1384825156	missense variant	-	NC_000017.11:g.40349908T>C	gnomAD
RARA	P10276	p.Val151Met	rs1436372199	missense variant	-	NC_000017.11:g.40349907G>A	TOPMed
RARA	P10276	p.Lys155Arg	rs773905498	missense variant	-	NC_000017.11:g.40349920A>G	ExAC,gnomAD
RARA	P10276	p.Asp161Gly	rs780436052	missense variant	-	NC_000017.11:g.40351922A>G	ExAC
RARA	P10276	p.Asp161Glu	rs1292720890	missense variant	-	NC_000017.11:g.40351923C>A	gnomAD
RARA	P10276	p.Arg162Gln	rs749735817	missense variant	-	NC_000017.11:g.40351925G>A	ExAC,gnomAD
RARA	P10276	p.Arg162Ter	rs1322125255	stop gained	-	NC_000017.11:g.40351924C>T	gnomAD
RARA	P10276	p.Lys164Asn	rs1481572813	missense variant	-	NC_000017.11:g.40351932G>C	gnomAD
RARA	P10276	p.Val169Leu	rs1437236573	missense variant	-	NC_000017.11:g.40351945G>T	gnomAD
RARA	P10276	p.Pro170Leu	rs747695319	missense variant	-	NC_000017.11:g.40351949C>T	ExAC,gnomAD
RARA	P10276	p.Lys171Asn	rs1413996628	missense variant	-	NC_000017.11:g.40351953G>C	gnomAD
RARA	P10276	p.Lys171Glu	rs1427039505	missense variant	-	NC_000017.11:g.40351951A>G	TOPMed
RARA	P10276	p.Pro172His	rs771789973	missense variant	-	NC_000017.11:g.40351955C>A	ExAC,gnomAD
RARA	P10276	p.Glu173Gln	rs369501728	missense variant	-	NC_000017.11:g.40351957G>C	ExAC,TOPMed,gnomAD
RARA	P10276	p.Glu173Lys	rs369501728	missense variant	-	NC_000017.11:g.40351957G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser175Phe	rs770822935	missense variant	-	NC_000017.11:g.40351964C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser177Gly	rs776543112	missense variant	-	NC_000017.11:g.40351969A>G	ExAC,gnomAD
RARA	P10276	p.Tyr178His	rs759379591	missense variant	-	NC_000017.11:g.40351972T>C	ExAC,gnomAD
RARA	P10276	p.Thr179Met	rs375401606	missense variant	-	NC_000017.11:g.40351976C>T	ESP,TOPMed,gnomAD
RARA	P10276	p.Thr181Met	rs367821941	missense variant	-	NC_000017.11:g.40351982C>T	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro182Leu	rs767684695	missense variant	-	NC_000017.11:g.40351985C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Val184Met	rs1480073657	missense variant	-	NC_000017.11:g.40351990G>A	gnomAD
RARA	P10276	p.Glu186Gln	rs1440999870	missense variant	-	NC_000017.11:g.40351996G>C	TOPMed
RARA	P10276	p.Glu189Lys	rs1456081508	missense variant	-	NC_000017.11:g.40352005G>A	gnomAD
RARA	P10276	p.Lys190Arg	rs780378953	missense variant	-	NC_000017.11:g.40352009A>G	ExAC,gnomAD
RARA	P10276	p.Arg192His	rs754292583	missense variant	-	NC_000017.11:g.40352015G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Lys193Arg	rs755371276	missense variant	-	NC_000017.11:g.40352018A>G	ExAC,gnomAD
RARA	P10276	p.Ala194Thr	rs1180532434	missense variant	-	NC_000017.11:g.40352020G>A	gnomAD
RARA	P10276	p.Ala194Val	rs779485530	missense variant	-	NC_000017.11:g.40352021C>T	ExAC,gnomAD
RARA	P10276	p.His195Gln	rs771740867	missense variant	-	NC_000017.11:g.40352025C>A	ExAC,gnomAD
RARA	P10276	p.Gln196His	rs1422032918	missense variant	-	NC_000017.11:g.40352028G>C	gnomAD
RARA	P10276	p.Gln204Arg	rs1328721893	missense variant	-	NC_000017.11:g.40352051A>G	TOPMed
RARA	P10276	p.Asn212Lys	rs1301972280	missense variant	-	NC_000017.11:g.40352336C>G	TOPMed,gnomAD
RARA	P10276	p.Trp225Arg	rs201919660	missense variant	-	NC_000017.11:g.40352373T>C	1000Genomes
RARA	P10276	p.Asp226Glu	rs1043230133	missense variant	-	NC_000017.11:g.40352378C>G	TOPMed
RARA	P10276	p.Asp226Val	rs745604036	missense variant	-	NC_000017.11:g.40352377A>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Cys235Ser	rs769597380	missense variant	-	NC_000017.11:g.40352403T>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr239Ser	rs1220464444	missense variant	-	NC_000017.11:g.40352416C>G	gnomAD
RARA	P10276	p.Val240Ala	rs775194260	missense variant	-	NC_000017.11:g.40352419T>C	ExAC,gnomAD
RARA	P10276	p.Ala243Ser	rs773208934	missense variant	-	NC_000017.11:g.40352427G>T	ExAC,gnomAD
RARA	P10276	p.Gly248Asp	rs200827868	missense variant	-	NC_000017.11:g.40352443G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly248Ser	rs373673287	missense variant	-	NC_000017.11:g.40352442G>A	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Thr253Asn	rs1298679769	missense variant	-	NC_000017.11:g.40352458C>A	TOPMed
RARA	P10276	p.Ala255Thr	rs758973243	missense variant	-	NC_000017.11:g.40352463G>A	ExAC,gnomAD
RARA	P10276	p.Ile258Val	rs1407524352	missense variant	-	NC_000017.11:g.40352472A>G	TOPMed
RARA	P10276	p.Arg272Gln	rs1457382271	missense variant	-	NC_000017.11:g.40354309G>A	gnomAD
RARA	P10276	p.Thr275Met	rs757750800	missense variant	-	NC_000017.11:g.40354318C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg276Trp	RCV000171542	missense variant	-	NC_000017.11:g.40354320C>T	ClinVar
RARA	P10276	p.Arg276Trp	rs786205678	missense variant	-	NC_000017.11:g.40354320C>T	-
RARA	P10276	p.Gln281Glu	rs1367641937	missense variant	-	NC_000017.11:g.40354335C>G	gnomAD
RARA	P10276	p.Thr285Ile	rs1471663982	missense variant	-	NC_000017.11:g.40354348C>T	gnomAD
RARA	P10276	p.Met297Ile	rs1328672864	missense variant	-	NC_000017.11:g.40354385G>T	gnomAD
RARA	P10276	p.Gly301Ala	rs1333053490	missense variant	-	NC_000017.11:g.40354396G>C	gnomAD
RARA	P10276	p.Leu305Val	rs374550237	missense variant	-	NC_000017.11:g.40354407C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Asp307Asn	rs763372641	missense variant	-	NC_000017.11:g.40354413G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Phe312Leu	rs1257809729	missense variant	-	NC_000017.11:g.40354428T>C	gnomAD
RARA	P10276	p.Ala313Val	rs762374504	missense variant	-	NC_000017.11:g.40354432C>T	ExAC,gnomAD
RARA	P10276	p.Pro318His	rs145829003	missense variant	-	NC_000017.11:g.40354447C>A	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro318Arg	rs145829003	missense variant	-	NC_000017.11:g.40354447C>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Met321Ile	rs1477443305	missense variant	-	NC_000017.11:g.40354457G>A	gnomAD
RARA	P10276	p.Asp323Glu	rs148999974	missense variant	-	NC_000017.11:g.40354463T>G	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Ala324Thr	rs1219908764	missense variant	-	NC_000017.11:g.40354464G>A	TOPMed
RARA	P10276	p.Thr326Met	rs752501819	missense variant	-	NC_000017.11:g.40354471C>T	ExAC,gnomAD
RARA	P10276	p.Gly327Arg	rs1399533631	missense variant	-	NC_000017.11:g.40354473G>A	gnomAD
RARA	P10276	p.Ala331Ser	rs879250985	missense variant	-	NC_000017.11:g.40354485G>T	gnomAD
RARA	P10276	p.Ile332Val	rs1303998335	missense variant	-	NC_000017.11:g.40354488A>G	gnomAD
RARA	P10276	p.Cys336Phe	rs774786141	missense variant	-	NC_000017.11:g.40354501G>T	ExAC,gnomAD
RARA	P10276	p.Cys336Tyr	rs774786141	missense variant	-	NC_000017.11:g.40354501G>A	ExAC,gnomAD
RARA	P10276	p.Arg339Leu	rs1402577201	missense variant	-	NC_000017.11:g.40355266G>T	TOPMed,gnomAD
RARA	P10276	p.Arg339His	rs1402577201	missense variant	-	NC_000017.11:g.40355266G>A	TOPMed,gnomAD
RARA	P10276	p.Arg339Cys	rs1416311365	missense variant	-	NC_000017.11:g.40355265C>T	TOPMed
RARA	P10276	p.Pro345Leu	rs568539129	missense variant	-	NC_000017.11:g.40355284C>T	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Arg347Leu	rs762709825	missense variant	-	NC_000017.11:g.40355290G>T	ExAC,gnomAD
RARA	P10276	p.Arg347Gln	rs762709825	missense variant	-	NC_000017.11:g.40355290G>A	ExAC,gnomAD
RARA	P10276	p.Arg347Trp	rs138717943	missense variant	-	NC_000017.11:g.40355289C>T	ESP,ExAC,TOPMed,gnomAD
RARA	P10276	p.Val348Met	rs1244011629	missense variant	-	NC_000017.11:g.40355292G>A	gnomAD
RARA	P10276	p.Met350Lys	rs1458722746	missense variant	-	NC_000017.11:g.40355299T>A	gnomAD
RARA	P10276	p.Met350Val	rs1271139288	missense variant	-	NC_000017.11:g.40355298A>G	gnomAD
RARA	P10276	p.Leu351Gln	rs767570841	missense variant	-	NC_000017.11:g.40355302T>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Leu351Met	rs757192084	missense variant	-	NC_000017.11:g.40355301C>A	ExAC,gnomAD
RARA	P10276	p.Pro354Ser	rs755139197	missense variant	-	NC_000017.11:g.40355310C>T	ExAC,gnomAD
RARA	P10276	p.Ala358Glu	rs866375031	missense variant	-	NC_000017.11:g.40355323C>A	TOPMed,gnomAD
RARA	P10276	p.Ala358Val	rs866375031	missense variant	-	NC_000017.11:g.40355323C>T	TOPMed,gnomAD
RARA	P10276	p.Val363Leu	rs1290171091	missense variant	-	NC_000017.11:g.40355337G>C	TOPMed
RARA	P10276	p.Arg364Trp	rs758706699	missense variant	-	NC_000017.11:g.40355340C>T	ExAC,gnomAD
RARA	P10276	p.Arg364Gln	rs1353021557	missense variant	-	NC_000017.11:g.40355341G>A	gnomAD
RARA	P10276	p.Arg366Gln	rs777998360	missense variant	-	NC_000017.11:g.40355347G>A	ExAC,gnomAD
RARA	P10276	p.Arg367Thr	rs1213422214	missense variant	-	NC_000017.11:g.40355350G>C	TOPMed
RARA	P10276	p.Ser369Ile	rs771371291	missense variant	-	NC_000017.11:g.40355356G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser369Gly	rs1379648717	missense variant	-	NC_000017.11:g.40355355A>G	gnomAD
RARA	P10276	p.Ser369Asn	rs771371291	missense variant	-	NC_000017.11:g.40355356G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg370His	rs899025600	missense variant	-	NC_000017.11:g.40355359G>A	TOPMed,gnomAD
RARA	P10276	p.Arg370Cys	rs976585948	missense variant	-	NC_000017.11:g.40355358C>T	TOPMed,gnomAD
RARA	P10276	p.Pro371Leu	rs1256836398	missense variant	-	NC_000017.11:g.40355362C>T	gnomAD
RARA	P10276	p.Pro371Ser	rs777149587	missense variant	-	NC_000017.11:g.40355361C>T	ExAC,gnomAD
RARA	P10276	p.His372Asn	rs745346700	missense variant	-	NC_000017.11:g.40355364C>A	ExAC,gnomAD
RARA	P10276	p.Met373Val	rs954829630	missense variant	-	NC_000017.11:g.40355367A>G	TOPMed,gnomAD
RARA	P10276	p.Met377Leu	rs1434768657	missense variant	-	NC_000017.11:g.40355379A>T	TOPMed
RARA	P10276	p.Met379Leu	rs1186254491	missense variant	-	NC_000017.11:g.40355385A>T	gnomAD
RARA	P10276	p.Ile381Val	rs769158319	missense variant	-	NC_000017.11:g.40355391A>G	ExAC,gnomAD
RARA	P10276	p.Thr382Ile	rs1165788898	missense variant	-	NC_000017.11:g.40355395C>T	TOPMed
RARA	P10276	p.Arg385Gln	rs775118101	missense variant	-	NC_000017.11:g.40355404G>A	ExAC,gnomAD
RARA	P10276	p.Ser386Asn	rs1417493977	missense variant	-	NC_000017.11:g.40355407G>A	gnomAD
RARA	P10276	p.Ile387Val	rs376831612	missense variant	-	NC_000017.11:g.40355409A>G	ESP,ExAC,gnomAD
RARA	P10276	p.Ala389Thr	rs773956341	missense variant	-	NC_000017.11:g.40355415G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly391Ala	rs1381078028	missense variant	-	NC_000017.11:g.40356009G>C	gnomAD
RARA	P10276	p.Gly391Glu	rs1381078028	missense variant	-	NC_000017.11:g.40356009G>A	gnomAD
RARA	P10276	p.Ala392Thr	rs951728975	missense variant	-	NC_000017.11:g.40356011G>A	TOPMed
RARA	P10276	p.Arg394Leu	rs866777491	missense variant	-	NC_000017.11:g.40356018G>T	gnomAD
RARA	P10276	p.Arg394Gln	rs866777491	missense variant	-	NC_000017.11:g.40356018G>A	gnomAD
RARA	P10276	p.Thr397Ser	rs1199779742	missense variant	-	NC_000017.11:g.40356026A>T	TOPMed
RARA	P10276	p.Glu401Lys	rs898360191	missense variant	-	NC_000017.11:g.40356038G>A	gnomAD
RARA	P10276	p.Pro403Leu	rs762998209	missense variant	-	NC_000017.11:g.40356045C>T	TOPMed
RARA	P10276	p.Met406Ile	rs1377181510	missense variant	-	NC_000017.11:g.40356055G>A	gnomAD
RARA	P10276	p.Pro408His	rs1278125009	missense variant	-	NC_000017.11:g.40356060C>A	gnomAD
RARA	P10276	p.Leu409del	RCV000171543	stop lost	-	NC_000017.11:g.40356063_40356227del	ClinVar
RARA	P10276	p.Met413Ile	rs1467197849	missense variant	-	NC_000017.11:g.40356076G>A	gnomAD
RARA	P10276	p.Asn416Ser	rs1239076616	missense variant	-	NC_000017.11:g.40356084A>G	gnomAD
RARA	P10276	p.Asp421Glu	rs1230989677	missense variant	-	NC_000017.11:g.40356100C>A	gnomAD
RARA	P10276	p.Thr422Ala	rs1400353822	missense variant	-	NC_000017.11:g.40356101A>G	TOPMed
RARA	P10276	p.Thr422Ser	rs1414395843	missense variant	-	NC_000017.11:g.40356102C>G	TOPMed
RARA	P10276	p.Leu423Pro	rs768180703	missense variant	-	NC_000017.11:g.40356105T>C	ExAC,gnomAD
RARA	P10276	p.Ser424Arg	rs747786910	missense variant	-	NC_000017.11:g.40356109C>G	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser424Thr	rs778615243	missense variant	-	NC_000017.11:g.40356108G>C	ExAC,gnomAD
RARA	P10276	p.Gly425Arg	rs1400641137	missense variant	-	NC_000017.11:g.40356110G>A	TOPMed,gnomAD
RARA	P10276	p.Gln426Pro	rs1326400235	missense variant	-	NC_000017.11:g.40356114A>C	gnomAD
RARA	P10276	p.Gln426Lys	rs771916537	missense variant	-	NC_000017.11:g.40356113C>A	ExAC,gnomAD
RARA	P10276	p.Pro427Leu	rs1176965878	missense variant	-	NC_000017.11:g.40356117C>T	TOPMed
RARA	P10276	p.Pro427Ala	rs1379873029	missense variant	-	NC_000017.11:g.40356116C>G	TOPMed
RARA	P10276	p.Gly428Ala	rs1293284406	missense variant	-	NC_000017.11:g.40356120G>C	gnomAD
RARA	P10276	p.Gly428Arg	rs1449127199	missense variant	-	NC_000017.11:g.40356119G>A	gnomAD
RARA	P10276	p.Gly428Trp	rs1449127199	missense variant	-	NC_000017.11:g.40356119G>T	gnomAD
RARA	P10276	p.Gly428Val	rs1293284406	missense variant	-	NC_000017.11:g.40356120G>T	gnomAD
RARA	P10276	p.Gly429Asp	rs776663600	missense variant	-	NC_000017.11:g.40356123G>A	ExAC,gnomAD
RARA	P10276	p.Gly429Val	rs776663600	missense variant	-	NC_000017.11:g.40356123G>T	ExAC,gnomAD
RARA	P10276	p.Gly429Cys	rs539116380	missense variant	-	NC_000017.11:g.40356122G>T	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Gly430Arg	rs759435121	missense variant	-	NC_000017.11:g.40356125G>C	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly430Arg	rs759435121	missense variant	-	NC_000017.11:g.40356125G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly430Trp	rs759435121	missense variant	-	NC_000017.11:g.40356125G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly430Ala	rs1194321465	missense variant	-	NC_000017.11:g.40356126G>C	gnomAD
RARA	P10276	p.Arg432Leu	rs774473938	missense variant	-	NC_000017.11:g.40356132G>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg432Gly	rs1188389540	missense variant	-	NC_000017.11:g.40356131C>G	TOPMed,gnomAD
RARA	P10276	p.Arg432Gln	rs774473938	missense variant	-	NC_000017.11:g.40356132G>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Arg432Trp	rs1188389540	missense variant	-	NC_000017.11:g.40356131C>T	TOPMed,gnomAD
RARA	P10276	p.Asp433Glu	rs762021232	missense variant	-	NC_000017.11:g.40356136C>A	ExAC,TOPMed,gnomAD
RARA	P10276	p.Asp433Glu	rs762021232	missense variant	-	NC_000017.11:g.40356136C>G	ExAC,TOPMed,gnomAD
RARA	P10276	p.Gly434Val	rs553921530	missense variant	-	NC_000017.11:g.40356138G>T	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Gly434Glu	rs553921530	missense variant	-	NC_000017.11:g.40356138G>A	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Gly434Arg	rs1055195329	missense variant	-	NC_000017.11:g.40356137G>A	TOPMed,gnomAD
RARA	P10276	p.Gly434Arg	rs1055195329	missense variant	-	NC_000017.11:g.40356137G>C	TOPMed,gnomAD
RARA	P10276	p.Gly435Asp	rs1403898124	missense variant	-	NC_000017.11:g.40356141G>A	gnomAD
RARA	P10276	p.Gly436Ser	rs572392003	missense variant	-	NC_000017.11:g.40356143G>A	1000Genomes,ExAC,gnomAD
RARA	P10276	p.Leu437Pro	rs1402428481	missense variant	-	NC_000017.11:g.40356147T>C	gnomAD
RARA	P10276	p.Ala438Pro	rs1441911200	missense variant	-	NC_000017.11:g.40356149G>C	TOPMed,gnomAD
RARA	P10276	p.Ala438Val	rs950687847	missense variant	-	NC_000017.11:g.40356150C>T	TOPMed,gnomAD
RARA	P10276	p.Ala438Gly	rs950687847	missense variant	-	NC_000017.11:g.40356150C>G	TOPMed,gnomAD
RARA	P10276	p.Pro439Ala	rs1014673601	missense variant	-	NC_000017.11:g.40356152C>G	TOPMed
RARA	P10276	p.Pro440Ser	rs1258058775	missense variant	-	NC_000017.11:g.40356155C>T	gnomAD
RARA	P10276	p.Pro440Leu	rs747666789	missense variant	-	NC_000017.11:g.40356156C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro440Arg	rs747666789	missense variant	-	NC_000017.11:g.40356156C>G	ExAC,TOPMed,gnomAD
RARA	P10276	p.Pro441Ser	rs1279305609	missense variant	-	NC_000017.11:g.40356158C>T	gnomAD
RARA	P10276	p.Ser443Arg	rs1484545278	missense variant	-	NC_000017.11:g.40356166C>A	gnomAD
RARA	P10276	p.Cys444Tyr	rs1218734380	missense variant	-	NC_000017.11:g.40356168G>A	gnomAD
RARA	P10276	p.Ser445Arg	rs1408995903	missense variant	-	NC_000017.11:g.40356170A>C	TOPMed
RARA	P10276	p.Pro446Ser	rs746742357	missense variant	-	NC_000017.11:g.40356173C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ser449Asn	rs1190379367	missense variant	-	NC_000017.11:g.40356183G>A	gnomAD
RARA	P10276	p.Pro450Leu	rs957564687	missense variant	-	NC_000017.11:g.40356186C>T	gnomAD
RARA	P10276	p.Ser451Asn	rs1172581482	missense variant	-	NC_000017.11:g.40356189G>A	TOPMed,gnomAD
RARA	P10276	p.Ser451Thr	rs1172581482	missense variant	-	NC_000017.11:g.40356189G>C	TOPMed,gnomAD
RARA	P10276	p.Pro457Leu	rs536574354	missense variant	-	NC_000017.11:g.40356207C>T	1000Genomes,TOPMed,gnomAD
RARA	P10276	p.Pro457Ala	rs1421848816	missense variant	-	NC_000017.11:g.40356206C>G	gnomAD
RARA	P10276	p.Pro457Ser	rs1421848816	missense variant	-	NC_000017.11:g.40356206C>T	gnomAD
RARA	P10276	p.Pro462Leu	rs770732457	missense variant	-	NC_000017.11:g.40356222C>T	ExAC,TOPMed,gnomAD
RARA	P10276	p.Ter463Gly	rs1233885208	stop lost	-	NC_000017.11:g.40356224T>G	gnomAD
PTPRF	P10586	p.Ala2Thr	rs1284169835	missense variant	-	NC_000001.11:g.43545079G>A	gnomAD
PTPRF	P10586	p.Pro3Leu	rs1445843642	missense variant	-	NC_000001.11:g.43545083C>T	gnomAD
PTPRF	P10586	p.Glu4Lys	rs1212651831	missense variant	-	NC_000001.11:g.43545085G>A	gnomAD
PTPRF	P10586	p.Ala6Val	rs766928002	missense variant	-	NC_000001.11:g.43545092C>T	ExAC,gnomAD
PTPRF	P10586	p.Ala6Asp	rs766928002	missense variant	-	NC_000001.11:g.43545092C>A	ExAC,gnomAD
PTPRF	P10586	p.Arg9Trp	rs1379181132	missense variant	-	NC_000001.11:g.43545100A>T	TOPMed
PTPRF	P10586	p.Thr10Arg	rs376974470	missense variant	-	NC_000001.11:g.43545104C>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr10Met	rs376974470	missense variant	-	NC_000001.11:g.43545104C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu14ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.43545111_43545112insC	NCI-TCGA
PTPRF	P10586	p.Val15Met	rs373829166	missense variant	-	NC_000001.11:g.43545118G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val15Leu	rs373829166	missense variant	-	NC_000001.11:g.43545118G>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val15Leu	rs373829166	missense variant	-	NC_000001.11:g.43545118G>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro16Ser	rs780606374	missense variant	-	NC_000001.11:g.43545121C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro16Leu	rs563605163	missense variant	-	NC_000001.11:g.43545122C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala17Thr	rs1384122242	missense variant	-	NC_000001.11:g.43545124G>A	gnomAD
PTPRF	P10586	p.Val19Met	rs117228743	missense variant	-	NC_000001.11:g.43545130G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met20Ile	rs1246885392	missense variant	-	NC_000001.11:g.43545135G>T	TOPMed
PTPRF	P10586	p.Gly22Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43545139G>C	NCI-TCGA
PTPRF	P10586	p.Ala25Thr	rs1451378674	missense variant	-	NC_000001.11:g.43545148G>A	gnomAD
PTPRF	P10586	p.Gly26Asp	rs1312482627	missense variant	-	NC_000001.11:g.43545152G>A	gnomAD
PTPRF	P10586	p.Ala27Val	rs1278488146	missense variant	-	NC_000001.11:g.43545155C>T	gnomAD
PTPRF	P10586	p.Ala27Thr	rs142286926	missense variant	-	NC_000001.11:g.43545154G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly29Val	rs1225917677	missense variant	-	NC_000001.11:g.43545161G>T	gnomAD
PTPRF	P10586	p.Ser31Arg	rs763748777	missense variant	-	NC_000001.11:g.43553493C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Phe35Ser	rs750930855	missense variant	-	NC_000001.11:g.43553504T>C	ExAC,gnomAD
PTPRF	P10586	p.Ile36Phe	rs556396767	missense variant	-	NC_000001.11:g.43553506A>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile36Thr	rs1453417778	missense variant	-	NC_000001.11:g.43553507T>C	gnomAD
PTPRF	P10586	p.Val38Phe	rs937131934	missense variant	-	NC_000001.11:g.43553512G>T	TOPMed,gnomAD
PTPRF	P10586	p.Pro39Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43553516C>T	NCI-TCGA
PTPRF	P10586	p.Asp41Asn	rs780553041	missense variant	-	NC_000001.11:g.43553521G>A	ExAC,gnomAD
PTPRF	P10586	p.Thr43Ile	rs909321178	missense variant	-	NC_000001.11:g.43553528C>T	TOPMed
PTPRF	P10586	p.Gly44Trp	rs747392641	missense variant	-	NC_000001.11:g.43553530G>T	ExAC,gnomAD
PTPRF	P10586	p.Gly47Arg	rs1049277336	missense variant	-	NC_000001.11:g.43553539G>A	gnomAD
PTPRF	P10586	p.Ala50Val	rs781508066	missense variant	-	NC_000001.11:g.43553549C>T	ExAC,gnomAD
PTPRF	P10586	p.Ser51Phe	rs1321313292	missense variant	-	NC_000001.11:g.43553552C>T	TOPMed
PTPRF	P10586	p.Phe52Leu	rs748125986	missense variant	-	NC_000001.11:g.43553556C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val53Met	rs576238237	missense variant	-	NC_000001.11:g.43553557G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr57Ala	rs565068107	missense variant	-	NC_000001.11:g.43553569A>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Pro60His	rs770909342	missense variant	-	NC_000001.11:g.43553579C>A	ExAC,gnomAD
PTPRF	P10586	p.Lys61Gln	rs774071378	missense variant	-	NC_000001.11:g.43553581A>C	ExAC,gnomAD
PTPRF	P10586	p.Pro62Leu	rs374024117	missense variant	-	NC_000001.11:g.43553585C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg63His	COSM188811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43553588G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Arg63Cys	rs1160984093	missense variant	-	NC_000001.11:g.43553587C>T	TOPMed
PTPRF	P10586	p.Met67Leu	rs775187760	missense variant	-	NC_000001.11:g.43553599A>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met67Leu	rs775187760	missense variant	-	NC_000001.11:g.43553599A>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys71Glu	rs760287504	missense variant	-	NC_000001.11:g.43553611A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln76Leu	rs1189436278	missense variant	-	NC_000001.11:g.43553627A>T	gnomAD
PTPRF	P10586	p.Arg77His	rs367865707	missense variant	-	NC_000001.11:g.43553630G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile81Thr	rs369031094	missense variant	-	NC_000001.11:g.43553804T>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp84Gly	rs1346277417	missense variant	-	NC_000001.11:g.43553813A>G	TOPMed,gnomAD
PTPRF	P10586	p.Asp85Gly	COSM909865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43553816A>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Asp85Val	rs1399064221	missense variant	-	NC_000001.11:g.43553816A>T	TOPMed
PTPRF	P10586	p.Gly86Glu	rs1287440506	missense variant	-	NC_000001.11:g.43553819G>A	TOPMed,gnomAD
PTPRF	P10586	p.Gly86Arg	rs954717138	missense variant	-	NC_000001.11:g.43553818G>A	TOPMed,gnomAD
PTPRF	P10586	p.Leu91Val	rs761438626	missense variant	-	NC_000001.11:g.43553833C>G	ExAC,gnomAD
PTPRF	P10586	p.Arg92Trp	rs202216979	missense variant	-	NC_000001.11:g.43553836C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg97Gln	rs767916955	missense variant	-	NC_000001.11:g.43553852G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg97Trp	rs752081368	missense variant	-	NC_000001.11:g.43553851C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg97Gly	rs752081368	missense variant	-	NC_000001.11:g.43553851C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val98Leu	rs1265936350	missense variant	-	NC_000001.11:g.43553854G>C	TOPMed,gnomAD
PTPRF	P10586	p.Val98Leu	rs1265936350	missense variant	-	NC_000001.11:g.43553854G>T	TOPMed,gnomAD
PTPRF	P10586	p.Val98Ala	rs756266392	missense variant	-	NC_000001.11:g.43553855T>C	ExAC,gnomAD
PTPRF	P10586	p.Arg100Gln	rs371678029	missense variant	-	NC_000001.11:g.43553861G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala103Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43553870C>T	NCI-TCGA
PTPRF	P10586	p.Tyr105Cys	rs757312037	missense variant	-	NC_000001.11:g.43553876A>G	ExAC,gnomAD
PTPRF	P10586	p.Glu106Asp	rs571501672	missense variant	-	NC_000001.11:g.43553880G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu106Lys	rs778902441	missense variant	-	NC_000001.11:g.43553878G>A	ExAC,gnomAD
PTPRF	P10586	p.Thr108Arg	rs758327132	missense variant	-	NC_000001.11:g.43553885C>G	ExAC
PTPRF	P10586	p.Leu113Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43553899C>A	NCI-TCGA
PTPRF	P10586	p.Lys121Arg	rs527385217	missense variant	-	NC_000001.11:g.43553924A>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Lys121Glu	rs1443865876	missense variant	-	NC_000001.11:g.43553923A>G	TOPMed
PTPRF	P10586	p.Ser123Leu	COSM1296473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43553930C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Ser123Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.43553930C>G	NCI-TCGA
PTPRF	P10586	p.Glu126Lys	rs776445536	missense variant	-	NC_000001.11:g.43553938G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu128Lys	rs750476610	missense variant	-	NC_000001.11:g.43569592G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln129His	rs1306598175	missense variant	-	NC_000001.11:g.43569597G>C	gnomAD
PTPRF	P10586	p.Pro131Ala	rs766528777	missense variant	-	NC_000001.11:g.43569601C>G	ExAC,gnomAD
PTPRF	P10586	p.Pro131Leu	rs751509707	missense variant	-	NC_000001.11:g.43569602C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro132Leu	rs755030848	missense variant	-	NC_000001.11:g.43569605C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp138Asn	rs777318046	missense variant	-	NC_000001.11:g.43569622G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met139Val	rs749022267	missense variant	-	NC_000001.11:g.43569625A>G	ExAC,gnomAD
PTPRF	P10586	p.Met139Ile	rs770321096	missense variant	-	NC_000001.11:g.43569627G>A	ExAC,gnomAD
PTPRF	P10586	p.Met139Arg	rs1425153166	missense variant	-	NC_000001.11:g.43569626T>G	gnomAD
PTPRF	P10586	p.Met139Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43569627G>C	NCI-TCGA
PTPRF	P10586	p.Val146Ala	rs1432596269	missense variant	-	NC_000001.11:g.43569647T>C	gnomAD
PTPRF	P10586	p.Ala149Thr	rs1170631763	missense variant	-	NC_000001.11:g.43569655G>A	TOPMed
PTPRF	P10586	p.Arg150His	rs749276357	missense variant	-	NC_000001.11:g.43569659G>A	gnomAD
PTPRF	P10586	p.Ala152Gly	rs1359561471	missense variant	-	NC_000001.11:g.43569665C>G	gnomAD
PTPRF	P10586	p.Ala152Thr	rs569999879	missense variant	-	NC_000001.11:g.43569664G>A	1000Genomes,ExAC
PTPRF	P10586	p.Thr153Ala	rs1288313499	missense variant	-	NC_000001.11:g.43569667A>G	gnomAD
PTPRF	P10586	p.Thr153Ile	rs374531518	missense variant	-	NC_000001.11:g.43569668C>T	ESP,ExAC,gnomAD
PTPRF	P10586	p.Met154Ile	rs960194475	missense variant	-	NC_000001.11:g.43569672G>A	TOPMed,gnomAD
PTPRF	P10586	p.Leu155Val	rs773282232	missense variant	-	NC_000001.11:g.43569673C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala158Thr	rs375157244	missense variant	-	NC_000001.11:g.43569682G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly159Ser	rs368326365	missense variant	-	NC_000001.11:g.43569685G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly160Arg	rs370860175	missense variant	-	NC_000001.11:g.43569688G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu165Asp	rs755880536	missense variant	-	NC_000001.11:g.43569705G>C	ExAC,gnomAD
PTPRF	P10586	p.Glu165Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43569703G>A	NCI-TCGA
PTPRF	P10586	p.Phe172Val	rs777667224	missense variant	-	NC_000001.11:g.43569724T>G	ExAC,gnomAD
PTPRF	P10586	p.Phe172Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43569725T>C	NCI-TCGA
PTPRF	P10586	p.Leu173Phe	rs368692509	missense variant	-	NC_000001.11:g.43569727C>T	ESP,ExAC,gnomAD
PTPRF	P10586	p.Pro174Leu	rs756996085	missense variant	-	NC_000001.11:g.43569731C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp176Ala	rs778340007	missense variant	-	NC_000001.11:g.43569737A>C	ExAC,gnomAD
PTPRF	P10586	p.Pro177Ala	rs1281980017	missense variant	-	NC_000001.11:g.43569739C>G	gnomAD
PTPRF	P10586	p.Pro177Leu	rs1353396650	missense variant	-	NC_000001.11:g.43569740C>T	gnomAD
PTPRF	P10586	p.Thr179Met	rs150660901	missense variant	-	NC_000001.11:g.43569746C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser180Gly	rs1206019354	missense variant	-	NC_000001.11:g.43569748A>G	TOPMed,gnomAD
PTPRF	P10586	p.Ser180Asn	rs748737963	missense variant	-	NC_000001.11:g.43569749G>A	ExAC,gnomAD
PTPRF	P10586	p.Ser180Ile	rs748737963	missense variant	-	NC_000001.11:g.43569749G>T	ExAC,gnomAD
PTPRF	P10586	p.Asn181Ser	rs1050427151	missense variant	-	NC_000001.11:g.43569752A>G	gnomAD
PTPRF	P10586	p.Asn181Asp	rs555893108	missense variant	-	NC_000001.11:g.43569751A>G	gnomAD
PTPRF	P10586	p.Gly182Ser	rs773693327	missense variant	-	NC_000001.11:g.43569754G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg183His	rs771288963	missense variant	-	NC_000001.11:g.43569758G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg183Cys	rs1455417237	missense variant	-	NC_000001.11:g.43569757C>T	gnomAD
PTPRF	P10586	p.Lys185Arg	rs1275911329	missense variant	-	NC_000001.11:g.43569764A>G	gnomAD
PTPRF	P10586	p.Lys185Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43569765G>T	NCI-TCGA
PTPRF	P10586	p.Leu187Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43569769C>A	NCI-TCGA
PTPRF	P10586	p.Arg188His	rs774501830	missense variant	-	NC_000001.11:g.43569773G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser189Leu	COSM426314	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43569776C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Leu192Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43578816T>G	NCI-TCGA
PTPRF	P10586	p.Ile194Val	rs1385310531	missense variant	-	NC_000001.11:g.43578821A>G	gnomAD
PTPRF	P10586	p.Gln202Glu	rs139518625	missense variant	-	NC_000001.11:g.43578845C>G	ESP,TOPMed
PTPRF	P10586	p.Gln202Ter	rs139518625	stop gained	-	NC_000001.11:g.43578845C>T	ESP,TOPMed
PTPRF	P10586	p.Lys204Asn	rs759104730	missense variant	-	NC_000001.11:g.43578853G>C	ExAC,gnomAD
PTPRF	P10586	p.Glu206Lys	COSM3865622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43578857G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Glu206Ter	rs754335848	stop gained	-	NC_000001.11:g.43578857G>T	ExAC,gnomAD
PTPRF	P10586	p.Ala209Val	rs757899600	missense variant	-	NC_000001.11:g.43578867C>T	ExAC,gnomAD
PTPRF	P10586	p.Thr210Ala	rs750826620	missense variant	-	NC_000001.11:g.43578869A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser212Leu	rs758657312	missense variant	-	NC_000001.11:g.43578876C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly214Asp	rs1161939784	missense variant	-	NC_000001.11:g.43578882G>A	gnomAD
PTPRF	P10586	p.Thr215Ala	rs747245021	missense variant	-	NC_000001.11:g.43578884A>G	ExAC,gnomAD
PTPRF	P10586	p.Arg216His	rs906834223	missense variant	-	NC_000001.11:g.43578888G>A	TOPMed,gnomAD
PTPRF	P10586	p.Arg216Leu	rs906834223	missense variant	-	NC_000001.11:g.43578888G>T	TOPMed,gnomAD
PTPRF	P10586	p.Pro220Ser	COSM6126678	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43578899C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Ala221Val	rs768752897	missense variant	-	NC_000001.11:g.43578903C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn222Tyr	rs1035295037	missense variant	-	NC_000001.11:g.43578905A>T	TOPMed
PTPRF	P10586	p.Val225Leu	rs1453668088	missense variant	-	NC_000001.11:g.43578914G>T	gnomAD
PTPRF	P10586	p.Arg226Gln	rs1377104184	missense variant	-	NC_000001.11:g.43578918G>A	gnomAD
PTPRF	P10586	p.Arg228His	rs1455359848	missense variant	-	NC_000001.11:g.43588734G>A	TOPMed
PTPRF	P10586	p.Arg228Cys	rs1330678973	missense variant	-	NC_000001.11:g.43588733C>T	gnomAD
PTPRF	P10586	p.Arg229Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43588737G>T	NCI-TCGA
PTPRF	P10586	p.Arg229His	rs1250737549	missense variant	-	NC_000001.11:g.43588737G>A	TOPMed
PTPRF	P10586	p.Val230Met	rs1299856963	missense variant	-	NC_000001.11:g.43588739G>A	gnomAD
PTPRF	P10586	p.Ala231Asp	rs1369116115	missense variant	-	NC_000001.11:g.43588743C>A	gnomAD
PTPRF	P10586	p.Pro232Ser	rs1468296025	missense variant	-	NC_000001.11:g.43588745C>T	TOPMed
PTPRF	P10586	p.Arg233His	rs201549619	missense variant	-	NC_000001.11:g.43588749G>A	gnomAD
PTPRF	P10586	p.Ser235Cys	rs775888535	missense variant	-	NC_000001.11:g.43588755C>G	ExAC,gnomAD
PTPRF	P10586	p.Pro237Ser	rs370982565	missense variant	-	NC_000001.11:g.43588760C>T	ESP,TOPMed,gnomAD
PTPRF	P10586	p.Ser240Asn	rs969964085	missense variant	-	NC_000001.11:g.43588770G>A	gnomAD
PTPRF	P10586	p.Ser240Ile	rs969964085	missense variant	-	NC_000001.11:g.43588770G>T	gnomAD
PTPRF	P10586	p.Ser240Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43588771C>A	NCI-TCGA
PTPRF	P10586	p.Gln241Glu	rs1198021971	missense variant	-	NC_000001.11:g.43588772C>G	TOPMed
PTPRF	P10586	p.Glu242Lys	rs1450640377	missense variant	-	NC_000001.11:g.43588775G>A	gnomAD
PTPRF	P10586	p.Pro245Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43588784C>T	NCI-TCGA
PTPRF	P10586	p.Gly247Ser	rs764333630	missense variant	-	NC_000001.11:g.43588790G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser248Asn	rs1459942101	missense variant	-	NC_000001.11:g.43588794G>A	gnomAD
PTPRF	P10586	p.Val249Met	rs1167481147	missense variant	-	NC_000001.11:g.43588796G>A	gnomAD
PTPRF	P10586	p.Leu251Val	rs753909516	missense variant	-	NC_000001.11:g.43588802C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val254Met	rs568517762	missense variant	-	NC_000001.11:g.43588811G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala255Ser	rs765398408	missense variant	-	NC_000001.11:g.43588814G>T	ExAC
PTPRF	P10586	p.Pro259Ala	rs1322773479	missense variant	-	NC_000001.11:g.43588826C>G	gnomAD
PTPRF	P10586	p.Val263Met	rs368337407	missense variant	-	NC_000001.11:g.43588838G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys264Gln	rs751403337	missense variant	-	NC_000001.11:g.43588841A>C	ExAC,gnomAD
PTPRF	P10586	p.Met266Val	rs754635285	missense variant	-	NC_000001.11:g.43588847A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met267Leu	rs983179950	missense variant	-	NC_000001.11:g.43588850A>T	gnomAD
PTPRF	P10586	p.Gly268Arg	rs1302980890	missense variant	-	NC_000001.11:g.43588853G>A	TOPMed
PTPRF	P10586	p.Glu270Asp	COSM3689707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43588861G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Glu270Lys	rs142181863	missense variant	-	NC_000001.11:g.43588859G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu272Phe	rs1392922009	missense variant	-	NC_000001.11:g.43588865C>T	TOPMed
PTPRF	P10586	p.Leu272Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43588866T>C	NCI-TCGA
PTPRF	P10586	p.Thr273Ser	rs747883338	missense variant	-	NC_000001.11:g.43588869C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr273Ile	rs747883338	missense variant	-	NC_000001.11:g.43588869C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys274Glu	rs769151984	missense variant	-	NC_000001.11:g.43588871A>G	ExAC,gnomAD
PTPRF	P10586	p.Glu277Lys	rs1454126684	missense variant	-	NC_000001.11:g.43588880G>A	TOPMed
PTPRF	P10586	p.Met278Thr	rs746345482	missense variant	-	NC_000001.11:g.43588884T>C	ExAC,gnomAD
PTPRF	P10586	p.Pro279Ser	rs1187315874	missense variant	-	NC_000001.11:g.43588886C>T	gnomAD
PTPRF	P10586	p.Val280Ile	rs772578571	missense variant	-	NC_000001.11:g.43588889G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg282His	rs764349921	missense variant	-	NC_000001.11:g.43588896G>A	gnomAD
PTPRF	P10586	p.Asn283Lys	rs775794645	missense variant	-	NC_000001.11:g.43588900C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val284Ile	rs140415781	missense variant	-	NC_000001.11:g.43588901G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu286Gly	COSM909867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43588908A>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Leu287Val	rs769061275	missense variant	-	NC_000001.11:g.43588910C>G	ExAC,gnomAD
PTPRF	P10586	p.Ser288Asn	rs1250419972	missense variant	-	NC_000001.11:g.43588914G>A	TOPMed
PTPRF	P10586	p.Asn289His	rs776690110	missense variant	-	NC_000001.11:g.43588916A>C	ExAC,gnomAD
PTPRF	P10586	p.Val291Ile	rs765219893	missense variant	-	NC_000001.11:g.43588922G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val291Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43588923T>C	NCI-TCGA
PTPRF	P10586	p.Arg292Ser	rs557357295	missense variant	-	NC_000001.11:g.43588925C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg292Cys	rs557357295	missense variant	-	NC_000001.11:g.43588925C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg292Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43588926G>T	NCI-TCGA
PTPRF	P10586	p.Arg292His	rs762919783	missense variant	-	NC_000001.11:g.43588926G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala294Thr	rs766448564	missense variant	-	NC_000001.11:g.43588931G>A	ExAC,gnomAD
PTPRF	P10586	p.Asn295Ser	rs751350194	missense variant	-	NC_000001.11:g.43588935A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val299Met	rs1269794866	missense variant	-	NC_000001.11:g.43588946G>A	gnomAD
PTPRF	P10586	p.Ser303Leu	rs781081287	missense variant	-	NC_000001.11:g.43588959C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr310Pro	rs1200604615	missense variant	-	NC_000001.11:g.43588979A>C	gnomAD
PTPRF	P10586	p.Val315Met	rs1256050298	missense variant	-	NC_000001.11:g.43588994G>A	gnomAD
PTPRF	P10586	p.Lys316Asn	rs1474519709	missense variant	-	NC_000001.11:g.43588999A>C	TOPMed,gnomAD
PTPRF	P10586	p.Ala317Pro	rs1184703085	missense variant	-	NC_000001.11:g.43589000G>C	TOPMed,gnomAD
PTPRF	P10586	p.Leu318Pro	rs182835593	missense variant	-	NC_000001.11:g.43590975T>C	1000Genomes,TOPMed
PTPRF	P10586	p.Pro319Leu	rs753539551	missense variant	-	NC_000001.11:g.43590978C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro321Ser	rs756729737	missense variant	-	NC_000001.11:g.43590983C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro321Thr	rs756729737	missense variant	-	NC_000001.11:g.43590983C>A	ExAC,gnomAD
PTPRF	P10586	p.Pro322Leu	rs778462451	missense variant	-	NC_000001.11:g.43590987C>T	ExAC,gnomAD
PTPRF	P10586	p.Leu325Val	rs755526598	missense variant	-	NC_000001.11:g.43590995C>G	ExAC,gnomAD
PTPRF	P10586	p.Val326Met	rs781347680	missense variant	-	NC_000001.11:g.43590998G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr328Ser	rs1342143736	missense variant	-	NC_000001.11:g.43591004A>T	gnomAD
PTPRF	P10586	p.Glu329Gln	rs1288701467	missense variant	-	NC_000001.11:g.43591007G>C	TOPMed
PTPRF	P10586	p.Thr330Arg	rs769856471	missense variant	-	NC_000001.11:g.43591011C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr330Ala	rs748578998	missense variant	-	NC_000001.11:g.43591010A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr333Ile	rs1190811308	missense variant	-	NC_000001.11:g.43591020C>T	gnomAD
PTPRF	P10586	p.Val335Ile	rs773543094	missense variant	-	NC_000001.11:g.43591025G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr336Ile	rs749558306	missense variant	-	NC_000001.11:g.43591029C>T	ExAC,gnomAD
PTPRF	P10586	p.Leu337Phe	rs771125743	missense variant	-	NC_000001.11:g.43591031C>T	ExAC,gnomAD
PTPRF	P10586	p.Leu337Ile	rs771125743	missense variant	-	NC_000001.11:g.43591031C>A	ExAC,gnomAD
PTPRF	P10586	p.Asp340Tyr	rs1168007555	missense variant	-	NC_000001.11:g.43591040G>T	gnomAD
PTPRF	P10586	p.Asp340Glu	rs1351426605	missense variant	-	NC_000001.11:g.43591042C>G	gnomAD
PTPRF	P10586	p.Ser341PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.43591043_43591044insTC	NCI-TCGA
PTPRF	P10586	p.Ser341Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591044C>A	NCI-TCGA
PTPRF	P10586	p.Gly342Val	rs767493242	missense variant	-	NC_000001.11:g.43591047G>T	ExAC,gnomAD
PTPRF	P10586	p.Ser344Leu	rs895500892	missense variant	-	NC_000001.11:g.43591053C>T	TOPMed,gnomAD
PTPRF	P10586	p.Ser344Pro	rs775100398	missense variant	-	NC_000001.11:g.43591052T>C	ExAC,gnomAD
PTPRF	P10586	p.Thr348Asn	rs1410741955	missense variant	-	NC_000001.11:g.43591065C>A	TOPMed
PTPRF	P10586	p.Tyr349Ser	rs753484573	missense variant	-	NC_000001.11:g.43591068A>C	ExAC,gnomAD
PTPRF	P10586	p.Tyr349His	rs1292708024	missense variant	-	NC_000001.11:g.43591067T>C	gnomAD
PTPRF	P10586	p.Gln353Arg	rs563115918	missense variant	-	NC_000001.11:g.43591080A>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Arg355Cys	rs143362739	missense variant	-	NC_000001.11:g.43591085C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg355His	rs540408475	missense variant	-	NC_000001.11:g.43591086G>A	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Arg355Ser	rs143362739	missense variant	-	NC_000001.11:g.43591085C>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala356Thr	rs79621077	missense variant	-	NC_000001.11:g.43591088G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala356Ser	rs79621077	missense variant	-	NC_000001.11:g.43591088G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala356Val	rs368187251	missense variant	-	NC_000001.11:g.43591089C>T	ESP,ExAC,gnomAD
PTPRF	P10586	p.Ala357Pro	rs749507478	missense variant	-	NC_000001.11:g.43591091G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala357Val	rs142785985	missense variant	-	NC_000001.11:g.43591092C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala357Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591091G>A	NCI-TCGA
PTPRF	P10586	p.Thr359Met	rs772095405	missense variant	-	NC_000001.11:g.43591098C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr359Arg	rs772095405	missense variant	-	NC_000001.11:g.43591098C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu360Asp	rs1286468849	missense variant	-	NC_000001.11:g.43591102G>T	gnomAD
PTPRF	P10586	p.Gly361Ser	rs760597858	missense variant	-	NC_000001.11:g.43591103G>A	ExAC,gnomAD
PTPRF	P10586	p.Pro362Leu	COSM3489974	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43591107C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Gln364Leu	rs761391796	missense variant	-	NC_000001.11:g.43591113A>T	ExAC,gnomAD
PTPRF	P10586	p.Glu365Gly	rs1331433592	missense variant	-	NC_000001.11:g.43591116A>G	gnomAD
PTPRF	P10586	p.Ala370Ser	rs1379971160	missense variant	-	NC_000001.11:g.43591130G>T	gnomAD
PTPRF	P10586	p.Ala370Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591131C>G	NCI-TCGA
PTPRF	P10586	p.Thr372Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591136A>G	NCI-TCGA
PTPRF	P10586	p.Arg373His	rs765844810	missense variant	-	NC_000001.11:g.43591140G>A	ExAC,gnomAD
PTPRF	P10586	p.Ser375Gly	rs1212415516	missense variant	-	NC_000001.11:g.43591145A>G	gnomAD
PTPRF	P10586	p.Ile376Val	rs1239117562	missense variant	-	NC_000001.11:g.43591148A>G	gnomAD
PTPRF	P10586	p.Gly378Ser	rs1186911250	missense variant	-	NC_000001.11:g.43591154G>A	gnomAD
PTPRF	P10586	p.Leu379Arg	rs1229058695	missense variant	-	NC_000001.11:g.43591158T>G	TOPMed
PTPRF	P10586	p.Phe382Ser	rs1415425444	missense variant	-	NC_000001.11:g.43591167T>C	gnomAD
PTPRF	P10586	p.Ser383Leu	rs756633630	missense variant	-	NC_000001.11:g.43591170C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg388Cys	rs376580480	missense variant	-	NC_000001.11:g.43591184C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg388His	rs779257179	missense variant	-	NC_000001.11:g.43591185G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg388Leu	rs779257179	missense variant	-	NC_000001.11:g.43591185G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val389Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591187G>A	NCI-TCGA
PTPRF	P10586	p.Ala391Val	rs746910917	missense variant	-	NC_000001.11:g.43591194C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala391Ser	rs571781315	missense variant	-	NC_000001.11:g.43591193G>T	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Asn393Lys	rs1279183680	missense variant	-	NC_000001.11:g.43591201C>A	gnomAD
PTPRF	P10586	p.Ser394Ile	rs776374379	missense variant	-	NC_000001.11:g.43591203G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser394Asn	rs776374379	missense variant	-	NC_000001.11:g.43591203G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser394Thr	rs776374379	missense variant	-	NC_000001.11:g.43591203G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg397Gln	rs772886593	missense variant	-	NC_000001.11:g.43591212G>A	ExAC,gnomAD
PTPRF	P10586	p.Pro399Thr	rs1210046572	missense variant	-	NC_000001.11:g.43591217C>A	gnomAD
PTPRF	P10586	p.Pro399Leu	rs61733187	missense variant	-	NC_000001.11:g.43591218C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro400Ala	rs761196800	missense variant	-	NC_000001.11:g.43591220C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser401Gly	rs764728270	missense variant	-	NC_000001.11:g.43591223A>G	ExAC,gnomAD
PTPRF	P10586	p.Ser401Arg	rs754204068	missense variant	-	NC_000001.11:g.43591225C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu402Lys	rs757666619	missense variant	-	NC_000001.11:g.43591226G>A	ExAC,gnomAD
PTPRF	P10586	p.Ala403Ser	rs1433610918	missense variant	-	NC_000001.11:g.43591229G>T	gnomAD
PTPRF	P10586	p.Arg405Trp	rs547221830	missense variant	-	NC_000001.11:g.43591235C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala406Ser	rs758562785	missense variant	-	NC_000001.11:g.43591238G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg407Cys	rs748429132	missense variant	-	NC_000001.11:g.43591241C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg407Gly	rs748429132	missense variant	-	NC_000001.11:g.43591241C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg407Ser	rs748429132	missense variant	-	NC_000001.11:g.43591241C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg407His	rs373662568	missense variant	-	NC_000001.11:g.43591242G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr408Met	rs748121483	missense variant	-	NC_000001.11:g.43591245C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly409Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591247G>A	NCI-TCGA
PTPRF	P10586	p.Glu410Gly	rs1347204574	missense variant	-	NC_000001.11:g.43591251A>G	gnomAD
PTPRF	P10586	p.Gln411His	rs772934252	missense variant	-	NC_000001.11:g.43591255G>C	ExAC,gnomAD
PTPRF	P10586	p.Ala412Val	rs1065775	missense variant	-	NC_000001.11:g.43591257C>T	UniProt,dbSNP
PTPRF	P10586	p.Ala412Val	VAR_054766	missense variant	-	NC_000001.11:g.43591257C>T	UniProt
PTPRF	P10586	p.Ala412Val	rs1065775	missense variant	-	NC_000001.11:g.43591257C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala412Ser	rs1186829781	missense variant	-	NC_000001.11:g.43591256G>T	TOPMed,gnomAD
PTPRF	P10586	p.Ala412Pro	rs1186829781	missense variant	-	NC_000001.11:g.43591256G>C	TOPMed,gnomAD
PTPRF	P10586	p.Pro413Leu	rs1205526671	missense variant	-	NC_000001.11:g.43591260C>T	gnomAD
PTPRF	P10586	p.Pro416Ser	rs369985213	missense variant	-	NC_000001.11:g.43591268C>T	ESP,TOPMed,gnomAD
PTPRF	P10586	p.Arg418His	rs372477577	missense variant	-	NC_000001.11:g.43591275G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg418Cys	rs759136731	missense variant	-	NC_000001.11:g.43591274C>T	ExAC
PTPRF	P10586	p.Arg419His	rs536262487	missense variant	-	NC_000001.11:g.43591278G>A	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Arg419Cys	rs1453259016	missense variant	-	NC_000001.11:g.43591277C>T	TOPMed,gnomAD
PTPRF	P10586	p.Val420Met	rs375757987	missense variant	-	NC_000001.11:g.43591280G>A	ESP,ExAC,gnomAD
PTPRF	P10586	p.Gln421Lys	rs1394757550	missense variant	-	NC_000001.11:g.43591283C>A	gnomAD
PTPRF	P10586	p.Arg423His	rs1360467408	missense variant	-	NC_000001.11:g.43591290G>A	gnomAD
PTPRF	P10586	p.Arg423Cys	rs1471991235	missense variant	-	NC_000001.11:g.43591289C>T	TOPMed
PTPRF	P10586	p.Ala427Pro	rs751831806	missense variant	-	NC_000001.11:g.43591301G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala427Val	rs1299928013	missense variant	-	NC_000001.11:g.43591302C>T	gnomAD
PTPRF	P10586	p.Ala427Thr	rs751831806	missense variant	-	NC_000001.11:g.43591301G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met430Val	rs1215117006	missense variant	-	NC_000001.11:g.43591310A>G	TOPMed
PTPRF	P10586	p.Val432Met	rs1250735663	missense variant	-	NC_000001.11:g.43591316G>A	gnomAD
PTPRF	P10586	p.Gln433Ter	rs1211482971	stop gained	-	NC_000001.11:g.43591319C>T	gnomAD
PTPRF	P10586	p.Gln433His	rs942716991	missense variant	-	NC_000001.11:g.43591321G>T	gnomAD
PTPRF	P10586	p.Gln433Arg	rs1292246821	missense variant	-	NC_000001.11:g.43591320A>G	TOPMed
PTPRF	P10586	p.Pro436Leu	rs755017217	missense variant	-	NC_000001.11:g.43591329C>T	ExAC,gnomAD
PTPRF	P10586	p.Glu438Gly	rs1054446954	missense variant	-	NC_000001.11:g.43591335A>G	TOPMed
PTPRF	P10586	p.Glu438Lys	rs931536811	missense variant	-	NC_000001.11:g.43591334G>A	TOPMed,gnomAD
PTPRF	P10586	p.Glu438Gln	rs931536811	missense variant	-	NC_000001.11:g.43591334G>C	TOPMed,gnomAD
PTPRF	P10586	p.Glu439Asp	rs1450583445	missense variant	-	NC_000001.11:g.43591339G>T	gnomAD
PTPRF	P10586	p.Pro440Thr	rs1193066225	missense variant	-	NC_000001.11:g.43591340C>A	gnomAD
PTPRF	P10586	p.Pro440Leu	rs781314317	missense variant	-	NC_000001.11:g.43591341C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro440Arg	rs781314317	missense variant	-	NC_000001.11:g.43591341C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn441Ser	rs1362908192	missense variant	-	NC_000001.11:g.43591344A>G	TOPMed
PTPRF	P10586	p.Gly442Val	rs1393940547	missense variant	-	NC_000001.11:g.43591347G>T	gnomAD
PTPRF	P10586	p.Gly442Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591346G>A	NCI-TCGA
PTPRF	P10586	p.Val444Met	rs756055613	missense variant	-	NC_000001.11:g.43591352G>A	ExAC,gnomAD
PTPRF	P10586	p.Val444Leu	rs756055613	missense variant	-	NC_000001.11:g.43591352G>T	ExAC,gnomAD
PTPRF	P10586	p.Arg445Gln	rs1004348611	missense variant	-	NC_000001.11:g.43591356G>A	TOPMed,gnomAD
PTPRF	P10586	p.Arg445Trp	rs887284804	missense variant	-	NC_000001.11:g.43591355C>T	TOPMed,gnomAD
PTPRF	P10586	p.Gly446Arg	rs1246641379	missense variant	-	NC_000001.11:g.43591358G>A	gnomAD
PTPRF	P10586	p.Arg448His	rs770566976	missense variant	-	NC_000001.11:g.43591365G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg448Cys	rs749068389	missense variant	-	NC_000001.11:g.43591364C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val449Ile	rs370471082	missense variant	-	NC_000001.11:g.43591367G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Tyr450Cys	rs3748796	missense variant	-	NC_000001.11:g.43591371A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Tyr450Cys	rs3748796	missense variant	-	NC_000001.11:g.43591371A>G	UniProt,dbSNP
PTPRF	P10586	p.Tyr450Cys	VAR_020299	missense variant	-	NC_000001.11:g.43591371A>G	UniProt
PTPRF	P10586	p.Tyr450Ter	rs1204098813	stop gained	-	NC_000001.11:g.43591372C>G	TOPMed,gnomAD
PTPRF	P10586	p.Pro453Leu	rs1189049815	missense variant	-	NC_000001.11:g.43591380C>T	gnomAD
PTPRF	P10586	p.Pro453Ala	rs1426084669	missense variant	-	NC_000001.11:g.43591379C>G	gnomAD
PTPRF	P10586	p.Pro453Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591379C>T	NCI-TCGA
PTPRF	P10586	p.Arg456His	rs775153874	missense variant	-	NC_000001.11:g.43591389G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg457Pro	rs371589885	missense variant	-	NC_000001.11:g.43591392G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg457His	rs371589885	missense variant	-	NC_000001.11:g.43591392G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg457Cys	rs1161603881	missense variant	-	NC_000001.11:g.43591391C>T	gnomAD
PTPRF	P10586	p.Pro458Ser	rs1453124855	missense variant	-	NC_000001.11:g.43591394C>T	gnomAD
PTPRF	P10586	p.Pro459Leu	rs765697855	missense variant	-	NC_000001.11:g.43591398C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro459Ser	rs1287200699	missense variant	-	NC_000001.11:g.43591397C>T	TOPMed,gnomAD
PTPRF	P10586	p.Asn460Ser	rs763208022	missense variant	-	NC_000001.11:g.43591401A>G	ExAC,gnomAD
PTPRF	P10586	p.Ala461Thr	rs1231299958	missense variant	-	NC_000001.11:g.43591403G>A	TOPMed,gnomAD
PTPRF	P10586	p.Trp462Ter	COSM1342890	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43591408G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.His463Tyr	rs918748407	missense variant	-	NC_000001.11:g.43591409C>T	gnomAD
PTPRF	P10586	p.Lys464Glu	rs1289821986	missense variant	-	NC_000001.11:g.43591412A>G	gnomAD
PTPRF	P10586	p.His465Tyr	rs934199065	missense variant	-	NC_000001.11:g.43591415C>T	TOPMed,gnomAD
PTPRF	P10586	p.Asn466Lys	rs751772672	missense variant	-	NC_000001.11:g.43591420C>A	ExAC,gnomAD
PTPRF	P10586	p.Thr467Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591422C>T	NCI-TCGA
PTPRF	P10586	p.Asp468Asn	rs370654753	missense variant	-	NC_000001.11:g.43591424G>A	ESP,ExAC,gnomAD
PTPRF	P10586	p.Ala469Val	rs1031553811	missense variant	-	NC_000001.11:g.43591428C>T	TOPMed,gnomAD
PTPRF	P10586	p.Ala469Thr	rs752774736	missense variant	-	NC_000001.11:g.43591427G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu471Phe	rs956070708	missense variant	-	NC_000001.11:g.43591433C>T	TOPMed,gnomAD
PTPRF	P10586	p.Leu471Pro	rs992617145	missense variant	-	NC_000001.11:g.43591434T>C	TOPMed
PTPRF	P10586	p.Leu472Phe	rs1156962444	missense variant	-	NC_000001.11:g.43591436C>T	gnomAD
PTPRF	P10586	p.Thr473Met	rs1379466189	missense variant	-	NC_000001.11:g.43591440C>T	gnomAD
PTPRF	P10586	p.Val475Leu	rs150324325	missense variant	-	NC_000001.11:g.43591445G>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val475Met	rs150324325	missense variant	-	NC_000001.11:g.43591445G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly476Asp	rs1309628467	missense variant	-	NC_000001.11:g.43591449G>A	gnomAD
PTPRF	P10586	p.Gly476Ser	rs1412636837	missense variant	-	NC_000001.11:g.43591448G>A	TOPMed,gnomAD
PTPRF	P10586	p.Leu479Pro	rs1490262416	missense variant	-	NC_000001.11:g.43591458T>C	TOPMed
PTPRF	P10586	p.Ser485Asn	rs573761255	missense variant	-	NC_000001.11:g.43591476G>A	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Leu486Met	rs1207652998	missense variant	-	NC_000001.11:g.43591478C>A	gnomAD
PTPRF	P10586	p.Arg487Cys	rs768264448	missense variant	-	NC_000001.11:g.43591481C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg487His	rs773564240	missense variant	-	NC_000001.11:g.43591482G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val488Met	rs771184014	missense variant	-	NC_000001.11:g.43591484G>A	ExAC,gnomAD
PTPRF	P10586	p.Leu489His	rs930295481	missense variant	-	NC_000001.11:g.43591488T>A	TOPMed
PTPRF	P10586	p.Ala490Ser	rs946122334	missense variant	-	NC_000001.11:g.43591490G>T	gnomAD
PTPRF	P10586	p.Ala490Thr	rs946122334	missense variant	-	NC_000001.11:g.43591490G>A	gnomAD
PTPRF	P10586	p.Ala490Val	rs1432823468	missense variant	-	NC_000001.11:g.43591491C>T	gnomAD
PTPRF	P10586	p.Phe491Leu	rs1354879374	missense variant	-	NC_000001.11:g.43591495C>G	TOPMed,gnomAD
PTPRF	P10586	p.Phe491Leu	rs1354879374	missense variant	-	NC_000001.11:g.43591495C>A	TOPMed,gnomAD
PTPRF	P10586	p.Thr492Ser	rs774708497	missense variant	-	NC_000001.11:g.43591496A>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr492Ile	rs1296085702	missense variant	-	NC_000001.11:g.43591497C>T	gnomAD
PTPRF	P10586	p.Ala493Val	rs887326029	missense variant	-	NC_000001.11:g.43591500C>T	TOPMed,gnomAD
PTPRF	P10586	p.Ala493Thr	rs375847889	missense variant	-	NC_000001.11:g.43591499G>A	1000Genomes,ESP,ExAC,gnomAD
PTPRF	P10586	p.Val494Met	rs760647060	missense variant	-	NC_000001.11:g.43591502G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val494Ala	COSM1342891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43591503T>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Gly495Ser	COSM3489976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43591505G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Asp496Gly	rs757233751	missense variant	-	NC_000001.11:g.43591509A>G	ExAC,gnomAD
PTPRF	P10586	p.Asp496Asn	rs368501227	missense variant	-	NC_000001.11:g.43591508G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro498Leu	rs750275015	missense variant	-	NC_000001.11:g.43591515C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro501Ala	rs895065406	missense variant	-	NC_000001.11:g.43591523C>G	TOPMed,gnomAD
PTPRF	P10586	p.Pro501Ser	rs895065406	missense variant	-	NC_000001.11:g.43591523C>T	TOPMed,gnomAD
PTPRF	P10586	p.Thr502Ile	rs1188172215	missense variant	-	NC_000001.11:g.43591527C>T	gnomAD
PTPRF	P10586	p.Thr502Ala	rs996952375	missense variant	-	NC_000001.11:g.43591526A>G	TOPMed,gnomAD
PTPRF	P10586	p.Gln504Arg	rs1427684895	missense variant	-	NC_000001.11:g.43591533A>G	gnomAD
PTPRF	P10586	p.Val505Phe	rs1168074813	missense variant	-	NC_000001.11:g.43591535G>T	gnomAD
PTPRF	P10586	p.Thr507Met	rs1461665604	missense variant	-	NC_000001.11:g.43591542C>T	TOPMed,gnomAD
PTPRF	P10586	p.Thr507Ala	rs758079244	missense variant	-	NC_000001.11:g.43591541A>G	ExAC,gnomAD
PTPRF	P10586	p.Ala513Val	rs747721714	missense variant	-	NC_000001.11:g.43591818C>T	ExAC,gnomAD
PTPRF	P10586	p.Gln514Ter	COSM4404657	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43591820C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Ala516Val	rs373978818	missense variant	-	NC_000001.11:g.43591827C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala516Pro	rs201705061	missense variant	-	NC_000001.11:g.43591826G>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala516Thr	rs201705061	missense variant	-	NC_000001.11:g.43591826G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Phe518Leu	rs369772044	missense variant	-	NC_000001.11:g.43591832T>C	ESP,TOPMed,gnomAD
PTPRF	P10586	p.Gln519Lys	rs747134912	missense variant	-	NC_000001.11:g.43591835C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu521Lys	rs778628256	missense variant	-	NC_000001.11:g.43591841G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val522Met	rs761933943	missense variant	-	NC_000001.11:g.43591844G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser524Trp	rs1348588531	missense variant	-	NC_000001.11:g.43591851C>G	gnomAD
PTPRF	P10586	p.Asp525Gly	rs1282365635	missense variant	-	NC_000001.11:g.43591854A>G	gnomAD
PTPRF	P10586	p.Thr526Ser	rs1483547386	missense variant	-	NC_000001.11:g.43591857C>G	TOPMed
PTPRF	P10586	p.Arg527Met	COSM909868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43591860G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Gln529Lys	rs754542750	missense variant	-	NC_000001.11:g.43591865C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu530Phe	rs368816972	missense variant	-	NC_000001.11:g.43591868C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser531Leu	rs200072533	missense variant	-	NC_000001.11:g.43591872C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser531Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.43591872C>A	NCI-TCGA
PTPRF	P10586	p.Trp532Ter	rs1225380934	stop gained	-	NC_000001.11:g.43591876G>A	TOPMed
PTPRF	P10586	p.Leu534Val	rs755587343	missense variant	-	NC_000001.11:g.43591880C>G	ExAC,gnomAD
PTPRF	P10586	p.Pro535Leu	rs1343911221	missense variant	-	NC_000001.11:g.43591884C>T	TOPMed
PTPRF	P10586	p.Pro535Ser	rs746359623	missense variant	-	NC_000001.11:g.43591883C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro536Ala	rs139284587	missense variant	-	NC_000001.11:g.43591886C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln537Arg	rs914839750	missense variant	-	NC_000001.11:g.43591890A>G	gnomAD
PTPRF	P10586	p.Gln537Glu	rs780240989	missense variant	-	NC_000001.11:g.43591889C>G	ExAC,gnomAD
PTPRF	P10586	p.Gln537Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43591889C>A	NCI-TCGA
PTPRF	P10586	p.Glu538Gly	rs747424443	missense variant	-	NC_000001.11:g.43591893A>G	ExAC,gnomAD
PTPRF	P10586	p.Arg539Gln	rs748453373	missense variant	-	NC_000001.11:g.43591896G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg539Trp	rs776883780	missense variant	-	NC_000001.11:g.43591895C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile540Met	rs370784590	missense variant	-	NC_000001.11:g.43591900C>G	ESP,TOPMed
PTPRF	P10586	p.Ile541Val	rs377374918	missense variant	-	NC_000001.11:g.43591901A>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met542Thr	rs762913708	missense variant	-	NC_000001.11:g.43591905T>C	ExAC,gnomAD
PTPRF	P10586	p.Met542Leu	rs773435037	missense variant	-	NC_000001.11:g.43591904A>T	ExAC,gnomAD
PTPRF	P10586	p.Glu544Asp	rs932846356	missense variant	-	NC_000001.11:g.43591912A>T	TOPMed
PTPRF	P10586	p.Trp548Cys	rs200879907	missense variant	-	NC_000001.11:g.43591924G>T	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Ala549Glu	rs200147342	missense variant	-	NC_000001.11:g.43591926C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala549Val	rs200147342	missense variant	-	NC_000001.11:g.43591926C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala550Ser	rs1435718099	missense variant	-	NC_000001.11:g.43591928G>T	TOPMed,gnomAD
PTPRF	P10586	p.Ala550Thr	rs1435718099	missense variant	-	NC_000001.11:g.43591928G>A	TOPMed,gnomAD
PTPRF	P10586	p.Glu551Lys	rs926058235	missense variant	-	NC_000001.11:g.43591931G>A	TOPMed
PTPRF	P10586	p.Asp552Glu	rs148716858	missense variant	-	NC_000001.11:g.43591936C>G	1000Genomes,ESP,ExAC,gnomAD
PTPRF	P10586	p.Asp552Glu	rs148716858	missense variant	-	NC_000001.11:g.43591936C>A	1000Genomes,ESP,ExAC,gnomAD
PTPRF	P10586	p.Glu553Lys	rs376335770	missense variant	-	NC_000001.11:g.43591937G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp554Glu	rs763528233	missense variant	-	NC_000001.11:g.43591942C>G	ExAC,gnomAD
PTPRF	P10586	p.Gln555Arg	rs1192271277	missense variant	-	NC_000001.11:g.43591944A>G	gnomAD
PTPRF	P10586	p.His557Tyr	rs1350824421	missense variant	-	NC_000001.11:g.43592457C>T	gnomAD
PTPRF	P10586	p.Lys558Arg	rs1205028109	missense variant	-	NC_000001.11:g.43592461A>G	gnomAD
PTPRF	P10586	p.Thr560Asn	rs756352829	missense variant	-	NC_000001.11:g.43592467C>A	ExAC,gnomAD
PTPRF	P10586	p.Phe561Leu	COSM125680	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43592469T>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Asp562Asn	rs3748800	missense variant	-	NC_000001.11:g.43592472G>A	UniProt,dbSNP
PTPRF	P10586	p.Asp562Asn	VAR_020300	missense variant	-	NC_000001.11:g.43592472G>A	UniProt
PTPRF	P10586	p.Asp562Asn	rs3748800	missense variant	-	NC_000001.11:g.43592472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro563Ala	rs771037116	missense variant	-	NC_000001.11:g.43592475C>G	ExAC,gnomAD
PTPRF	P10586	p.Pro563Leu	rs778917013	missense variant	-	NC_000001.11:g.43592476C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro563Ser	rs771037116	missense variant	-	NC_000001.11:g.43592475C>T	ExAC,gnomAD
PTPRF	P10586	p.Thr564Ala	rs372713942	missense variant	-	NC_000001.11:g.43592478A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser565Phe	rs541760221	missense variant	-	NC_000001.11:g.43592482C>T	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Thr568Ile	rs1313265257	missense variant	-	NC_000001.11:g.43592491C>T	TOPMed,gnomAD
PTPRF	P10586	p.Leu569Gln	rs1393907999	missense variant	-	NC_000001.11:g.43592494T>A	gnomAD
PTPRF	P10586	p.Leu569Val	rs201453872	missense variant	-	NC_000001.11:g.43592493C>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Glu570Ala	rs373396517	missense variant	-	NC_000001.11:g.43592497A>C	ESP,TOPMed,gnomAD
PTPRF	P10586	p.Glu570Gly	rs373396517	missense variant	-	NC_000001.11:g.43592497A>G	ESP,TOPMed,gnomAD
PTPRF	P10586	p.Lys573Arg	rs776265538	missense variant	-	NC_000001.11:g.43592506A>G	ExAC,gnomAD
PTPRF	P10586	p.Pro574Ala	rs530318417	missense variant	-	NC_000001.11:g.43592508C>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Asp575His	rs1447021392	missense variant	-	NC_000001.11:g.43592511G>C	TOPMed
PTPRF	P10586	p.Thr576Ser	rs764750522	missense variant	-	NC_000001.11:g.43592514A>T	ExAC,gnomAD
PTPRF	P10586	p.Thr576Ile	rs772605619	missense variant	-	NC_000001.11:g.43592515C>T	ExAC,gnomAD
PTPRF	P10586	p.Leu577His	rs758181842	missense variant	-	NC_000001.11:g.43592518T>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg579Cys	rs376375127	missense variant	-	NC_000001.11:g.43592523C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg579His	rs753304290	missense variant	-	NC_000001.11:g.43592524G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln581His	rs1418563085	missense variant	-	NC_000001.11:g.43592531G>T	gnomAD
PTPRF	P10586	p.Gln581Arg	rs764618194	missense variant	-	NC_000001.11:g.43592530A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala584Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43592539C>T	NCI-TCGA
PTPRF	P10586	p.Arg585Cys	rs147188221	missense variant	-	NC_000001.11:g.43592541C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg585His	rs144513069	missense variant	-	NC_000001.11:g.43592542G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met588Ile	rs1000899867	missense variant	-	NC_000001.11:g.43592552G>A	TOPMed,gnomAD
PTPRF	P10586	p.Met588Val	rs1327156374	missense variant	-	NC_000001.11:g.43592550A>G	TOPMed
PTPRF	P10586	p.Val590Met	rs79766207	missense variant	-	NC_000001.11:g.43592556G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val590Leu	rs79766207	missense variant	-	NC_000001.11:g.43592556G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val590Leu	rs79766207	missense variant	-	NC_000001.11:g.43592556G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val592Ile	rs150963518	missense variant	-	NC_000001.11:g.43592562G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Phe593Ser	rs1373771874	missense variant	-	NC_000001.11:g.43592566T>C	gnomAD
PTPRF	P10586	p.Thr594Ala	COSM3805333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43592568A>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Pro595Ala	COSM3985084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43592571C>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Ile597Val	rs762345034	missense variant	-	NC_000001.11:g.43592577A>G	ExAC,gnomAD
PTPRF	P10586	p.Ile597Thr	rs1442498608	missense variant	-	NC_000001.11:g.43592578T>C	TOPMed,gnomAD
PTPRF	P10586	p.Ala599Thr	rs1020428969	missense variant	-	NC_000001.11:g.43592583G>A	TOPMed
PTPRF	P10586	p.Arg600His	rs751589837	missense variant	-	NC_000001.11:g.43592587G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg600Leu	rs751589837	missense variant	-	NC_000001.11:g.43592587G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg600Cys	rs766024179	missense variant	-	NC_000001.11:g.43592586C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala602Val	rs761321345	missense variant	-	NC_000001.11:g.43592593C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala602Thr	rs1254987769	missense variant	-	NC_000001.11:g.43592592G>A	gnomAD
PTPRF	P10586	p.Gln603Glu	rs754156472	missense variant	-	NC_000001.11:g.43592595C>G	ExAC,gnomAD
PTPRF	P10586	p.Gln603Arg	rs757452368	missense variant	-	NC_000001.11:g.43592596A>G	ExAC,gnomAD
PTPRF	P10586	p.Pro606Leu	rs1232705923	missense variant	-	NC_000001.11:g.43597751C>T	gnomAD
PTPRF	P10586	p.Ser607Pro	rs868510741	missense variant	-	NC_000001.11:g.43597753T>C	TOPMed,gnomAD
PTPRF	P10586	p.Ala608Pro	rs1217817504	missense variant	-	NC_000001.11:g.43597756G>C	gnomAD
PTPRF	P10586	p.Ala608Thr	rs1217817504	missense variant	-	NC_000001.11:g.43597756G>A	gnomAD
PTPRF	P10586	p.Pro609Ser	rs1242703150	missense variant	-	NC_000001.11:g.43597759C>T	gnomAD
PTPRF	P10586	p.Gln611Pro	rs1259101040	missense variant	-	NC_000001.11:g.43597766A>C	TOPMed,gnomAD
PTPRF	P10586	p.Gln611His	rs1475349786	missense variant	-	NC_000001.11:g.43597767G>C	gnomAD
PTPRF	P10586	p.Lys612Arg	rs1180724695	missense variant	-	NC_000001.11:g.43597769A>G	gnomAD
PTPRF	P10586	p.Met614Thr	rs1363468504	missense variant	-	NC_000001.11:g.43597775T>C	TOPMed
PTPRF	P10586	p.Met614Ile	rs369236165	missense variant	-	NC_000001.11:g.43597776G>C	ESP,TOPMed,gnomAD
PTPRF	P10586	p.Met614Ile	rs369236165	missense variant	-	NC_000001.11:g.43597776G>A	ESP,TOPMed,gnomAD
PTPRF	P10586	p.Cys615Phe	rs1387881232	missense variant	-	NC_000001.11:g.43597778G>T	TOPMed
PTPRF	P10586	p.Val616Ter	RCV000144043	frameshift	Breasts and/or nipples, aplasia or hypoplasia of, 2 (BNAH2)	NC_000001.11:g.43597775_43597776TG[3]	ClinVar
PTPRF	P10586	p.Val616Ala	rs1160451856	missense variant	-	NC_000001.11:g.43597781T>C	gnomAD
PTPRF	P10586	p.Gly619Ser	rs745350125	missense variant	-	NC_000001.11:g.43597789G>A	ExAC,gnomAD
PTPRF	P10586	p.Thr622Met	rs1265743877	missense variant	-	NC_000001.11:g.43597799C>T	TOPMed,gnomAD
PTPRF	P10586	p.Val623Ala	rs1447541618	missense variant	-	NC_000001.11:g.43597802T>C	gnomAD
PTPRF	P10586	p.Val623Ile	rs1356278983	missense variant	-	NC_000001.11:g.43597801G>A	gnomAD
PTPRF	P10586	p.Arg624Gln	rs771749077	missense variant	-	NC_000001.11:g.43597805G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg624Leu	COSM4008261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43597805G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Val625Ile	rs1224465661	missense variant	-	NC_000001.11:g.43597807G>A	gnomAD
PTPRF	P10586	p.Ser626Asn	rs1284800093	missense variant	-	NC_000001.11:g.43597811G>A	gnomAD
PTPRF	P10586	p.Val628Ala	COSM4008262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43597817T>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Pro629Leu	rs769997975	missense variant	-	NC_000001.11:g.43597820C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro629Arg	rs769997975	missense variant	-	NC_000001.11:g.43597820C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro630Leu	rs763125381	missense variant	-	NC_000001.11:g.43597823C>T	ExAC,gnomAD
PTPRF	P10586	p.Ala632Thr	rs1235438684	missense variant	-	NC_000001.11:g.43597828G>A	gnomAD
PTPRF	P10586	p.Asp633Ala	rs1380180843	missense variant	-	NC_000001.11:g.43597832A>C	gnomAD
PTPRF	P10586	p.Asp633Asn	rs767699823	missense variant	-	NC_000001.11:g.43597831G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg635His	rs777362958	missense variant	-	NC_000001.11:g.43597838G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg635Cys	rs17849101	missense variant	-	NC_000001.11:g.43597837C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg635Pro	rs777362958	missense variant	-	NC_000001.11:g.43597838G>C	ExAC,gnomAD
PTPRF	P10586	p.Gly637Ser	rs1332425527	missense variant	-	NC_000001.11:g.43597843G>A	gnomAD
PTPRF	P10586	p.Val638Ile	rs369453577	missense variant	-	NC_000001.11:g.43597846G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr640Ser	COSM4008263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43597853C>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Ser643Thr	rs745583010	missense variant	-	NC_000001.11:g.43597861T>A	ExAC,gnomAD
PTPRF	P10586	p.Val644Met	rs748539042	missense variant	-	NC_000001.11:g.43597864G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Tyr646Ter	rs1199674135	stop gained	-	NC_000001.11:g.43597872C>A	TOPMed,gnomAD
PTPRF	P10586	p.Glu647Lys	rs770367017	missense variant	-	NC_000001.11:g.43597873G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala648Ser	rs1204546117	missense variant	-	NC_000001.11:g.43597876G>T	gnomAD
PTPRF	P10586	p.Ala648Val	rs749626324	missense variant	-	NC_000001.11:g.43597877C>T	ExAC,gnomAD
PTPRF	P10586	p.Val649Met	rs1404810618	missense variant	-	NC_000001.11:g.43597879G>A	TOPMed
PTPRF	P10586	p.Val649Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43597879G>T	NCI-TCGA
PTPRF	P10586	p.Gly651Ser	rs759809563	missense variant	-	NC_000001.11:g.43597885G>A	ExAC,gnomAD
PTPRF	P10586	p.Glu652Lys	rs775642004	missense variant	-	NC_000001.11:g.43597888G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp653Gly	rs1410767912	missense variant	-	NC_000001.11:g.43597892A>G	gnomAD
PTPRF	P10586	p.Arg654His	rs764113767	missense variant	-	NC_000001.11:g.43597895G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg654Cys	rs572442326	missense variant	-	NC_000001.11:g.43597894C>T	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Arg654Ser	rs572442326	missense variant	-	NC_000001.11:g.43597894C>A	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Gly655Glu	rs1331614439	missense variant	-	NC_000001.11:g.43597898G>A	gnomAD
PTPRF	P10586	p.Gly655Val	rs1331614439	missense variant	-	NC_000001.11:g.43597898G>T	gnomAD
PTPRF	P10586	p.Gly655Arg	rs757114527	missense variant	-	NC_000001.11:g.43597897G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg656Trp	rs985815285	missense variant	-	NC_000001.11:g.43597900C>T	TOPMed,gnomAD
PTPRF	P10586	p.Arg656Gln	rs1341268386	missense variant	-	NC_000001.11:g.43597901G>A	gnomAD
PTPRF	P10586	p.Arg656Gly	rs985815285	missense variant	-	NC_000001.11:g.43597900C>G	TOPMed,gnomAD
PTPRF	P10586	p.Val658Glu	rs758076346	missense variant	-	NC_000001.11:g.43597907T>A	ExAC,gnomAD
PTPRF	P10586	p.Val658Ala	rs758076346	missense variant	-	NC_000001.11:g.43597907T>C	ExAC,gnomAD
PTPRF	P10586	p.Val658Met	rs1218826343	missense variant	-	NC_000001.11:g.43597906G>A	TOPMed,gnomAD
PTPRF	P10586	p.Val659Met	rs1215039768	missense variant	-	NC_000001.11:g.43597909G>A	gnomAD
PTPRF	P10586	p.Gly661Ser	rs1254105738	missense variant	-	NC_000001.11:g.43597915G>A	gnomAD
PTPRF	P10586	p.Ile662Val	rs1451571570	missense variant	-	NC_000001.11:g.43597918A>G	gnomAD
PTPRF	P10586	p.Arg664Cys	rs779393774	missense variant	-	NC_000001.11:g.43597924C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg664His	rs1253367699	missense variant	-	NC_000001.11:g.43597925G>A	TOPMed
PTPRF	P10586	p.Arg664Ser	rs779393774	missense variant	-	NC_000001.11:g.43597924C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser668Thr	rs1054668971	missense variant	-	NC_000001.11:g.43597937G>C	TOPMed
PTPRF	P10586	p.Asp670Asn	rs17849102	missense variant	-	NC_000001.11:g.43597942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu671Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43597945C>A	NCI-TCGA
PTPRF	P10586	p.Val672Leu	rs1463018567	missense variant	-	NC_000001.11:g.43597948G>T	gnomAD
PTPRF	P10586	p.Glu675Lys	rs555258971	missense variant	-	NC_000001.11:g.43597957G>A	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Thr678Met	rs1386119775	missense variant	-	NC_000001.11:g.43597967C>T	gnomAD
PTPRF	P10586	p.Glu679Gln	rs1327972182	missense variant	-	NC_000001.11:g.43597969G>C	gnomAD
PTPRF	P10586	p.Glu679Lys	rs1327972182	missense variant	-	NC_000001.11:g.43597969G>A	gnomAD
PTPRF	P10586	p.Arg681Trp	rs912268666	missense variant	-	NC_000001.11:g.43597975C>T	gnomAD
PTPRF	P10586	p.Arg681Gln	rs771269220	missense variant	-	NC_000001.11:g.43597976G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val682Leu	rs746021731	missense variant	-	NC_000001.11:g.43597978G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Trp683Ter	rs1261619328	stop gained	-	NC_000001.11:g.43597983G>A	TOPMed
PTPRF	P10586	p.Val684Gly	rs1223464697	missense variant	-	NC_000001.11:g.43597985T>G	TOPMed
PTPRF	P10586	p.Arg685Gln	rs775382791	missense variant	-	NC_000001.11:g.43597988G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg685Trp	rs144665293	missense variant	-	NC_000001.11:g.43597987C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.His687Arg	rs760786106	missense variant	-	NC_000001.11:g.43597994A>G	ExAC,gnomAD
PTPRF	P10586	p.Asp689His	rs201745531	missense variant	-	NC_000001.11:g.43597999G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp689Tyr	rs201745531	missense variant	-	NC_000001.11:g.43597999G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp689Asn	COSM4818406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43597999G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Val690Met	rs761857102	missense variant	-	NC_000001.11:g.43598002G>A	ExAC,gnomAD
PTPRF	P10586	p.Gly691Ala	rs1456513017	missense variant	-	NC_000001.11:g.43598006G>C	gnomAD
PTPRF	P10586	p.Gly691Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43598005G>C	NCI-TCGA
PTPRF	P10586	p.Pro692Ala	rs1387060597	missense variant	-	NC_000001.11:g.43598008C>G	gnomAD
PTPRF	P10586	p.Gly693Ser	rs1297394345	missense variant	-	NC_000001.11:g.43598011G>A	gnomAD
PTPRF	P10586	p.Pro694Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43598015C>T	NCI-TCGA
PTPRF	P10586	p.Glu695Lys	rs1416223281	missense variant	-	NC_000001.11:g.43598017G>A	TOPMed,gnomAD
PTPRF	P10586	p.Ser697Asn	rs894516328	missense variant	-	NC_000001.11:g.43598024G>A	TOPMed
PTPRF	P10586	p.Pro698Ser	rs1339361196	missense variant	-	NC_000001.11:g.43598026C>T	gnomAD
PTPRF	P10586	p.Pro698Leu	rs1006220911	missense variant	-	NC_000001.11:g.43598027C>T	TOPMed,gnomAD
PTPRF	P10586	p.Val699Met	rs1267826004	missense variant	-	NC_000001.11:g.43598029G>A	gnomAD
PTPRF	P10586	p.Val701Met	rs1216281893	missense variant	-	NC_000001.11:g.43598035G>A	gnomAD
PTPRF	P10586	p.Val701Leu	rs1216281893	missense variant	-	NC_000001.11:g.43598035G>T	gnomAD
PTPRF	P10586	p.Arg702Cys	rs1284292923	missense variant	-	NC_000001.11:g.43598038C>T	gnomAD
PTPRF	P10586	p.Arg702His	rs1486879479	missense variant	-	NC_000001.11:g.43598039G>A	gnomAD
PTPRF	P10586	p.Asp704Asn	rs766035780	missense variant	-	NC_000001.11:g.43598044G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp704Glu	rs1422069418	missense variant	-	NC_000001.11:g.43598046T>A	TOPMed,gnomAD
PTPRF	P10586	p.Asp704His	rs766035780	missense variant	-	NC_000001.11:g.43598044G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val707Met	rs1365430574	missense variant	-	NC_000001.11:g.43598053G>A	gnomAD
PTPRF	P10586	p.Pro708Leu	rs759127729	missense variant	-	NC_000001.11:g.43598723C>T	ExAC,gnomAD
PTPRF	P10586	p.Gly710Arg	rs757714695	missense variant	-	NC_000001.11:g.43598728G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly710Trp	rs757714695	missense variant	-	NC_000001.11:g.43598728G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg713Gln	rs1308563374	missense variant	-	NC_000001.11:g.43598738G>A	TOPMed,gnomAD
PTPRF	P10586	p.Glu716Ter	COSM6126673	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43598746G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Val717Leu	rs780294143	missense variant	-	NC_000001.11:g.43598749G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val717Gly	rs1266369144	missense variant	-	NC_000001.11:g.43598750T>G	gnomAD
PTPRF	P10586	p.Glu718Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43598754G>T	NCI-TCGA
PTPRF	P10586	p.Pro719Thr	rs1172354507	missense variant	-	NC_000001.11:g.43598755C>A	gnomAD
PTPRF	P10586	p.Ala724Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43598771C>T	NCI-TCGA
PTPRF	P10586	p.His726Arg	rs1464586379	missense variant	-	NC_000001.11:g.43598777A>G	gnomAD
PTPRF	P10586	p.Val727Ile	rs1167949818	missense variant	-	NC_000001.11:g.43598779G>A	gnomAD
PTPRF	P10586	p.Tyr728Ser	rs1352078594	missense variant	-	NC_000001.11:g.43598783A>C	gnomAD
PTPRF	P10586	p.Tyr728His	rs1361334730	missense variant	-	NC_000001.11:g.43598782T>C	gnomAD
PTPRF	P10586	p.Trp729Ter	COSM4398830	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43598786G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Leu731Val	rs769029754	missense variant	-	NC_000001.11:g.43598791C>G	ExAC,gnomAD
PTPRF	P10586	p.Val733Ile	rs564141034	missense variant	-	NC_000001.11:g.43598797G>A	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Ser735Asn	rs1384334912	missense variant	-	NC_000001.11:g.43598804G>A	gnomAD
PTPRF	P10586	p.Ser735Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43598805C>A	NCI-TCGA
PTPRF	P10586	p.Lys736Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43598806A>G	NCI-TCGA
PTPRF	P10586	p.Gln740Arg	rs1404378647	missense variant	-	NC_000001.11:g.43598819A>G	TOPMed
PTPRF	P10586	p.Arg742Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43598825G>T	NCI-TCGA
PTPRF	P10586	p.Gly743Arg	rs1202842302	missense variant	-	NC_000001.11:g.43598827G>C	gnomAD
PTPRF	P10586	p.Gln745His	rs762860244	missense variant	-	NC_000001.11:g.43598835G>C	ExAC,gnomAD
PTPRF	P10586	p.Gln745Leu	rs1216822839	missense variant	-	NC_000001.11:g.43598834A>T	gnomAD
PTPRF	P10586	p.Val746Ile	rs770705836	missense variant	-	NC_000001.11:g.43598836G>A	ExAC,gnomAD
PTPRF	P10586	p.Thr747Ile	rs774023984	missense variant	-	NC_000001.11:g.43598840C>T	ExAC,gnomAD
PTPRF	P10586	p.Val749Leu	rs201048136	missense variant	-	NC_000001.11:g.43598845G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val749Leu	rs201048136	missense variant	-	NC_000001.11:g.43598845G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val749Met	rs201048136	missense variant	-	NC_000001.11:g.43598845G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg750Gln	rs752038331	missense variant	-	NC_000001.11:g.43598849G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu752Lys	rs149070360	missense variant	-	NC_000001.11:g.43598854G>A	ESP,ExAC,gnomAD
PTPRF	P10586	p.Glu755Lys	rs201114915	missense variant	-	NC_000001.11:g.43598863G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro756Leu	rs751890381	missense variant	-	NC_000001.11:g.43598867C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg757Cys	rs755439618	missense variant	-	NC_000001.11:g.43598869C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg757His	rs1252295013	missense variant	-	NC_000001.11:g.43598870G>A	TOPMed
PTPRF	P10586	p.Gly758Glu	COSM4008264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43598873G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Leu759Phe	rs1193658685	missense variant	-	NC_000001.11:g.43598875C>T	TOPMed
PTPRF	P10586	p.Pro760Ser	rs781530130	missense variant	-	NC_000001.11:g.43598878C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro760Leu	rs370187541	missense variant	-	NC_000001.11:g.43598879C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro760Ala	rs781530130	missense variant	-	NC_000001.11:g.43598878C>G	ExAC,gnomAD
PTPRF	P10586	p.Ile761Met	rs749186153	missense variant	-	NC_000001.11:g.43598883C>G	ExAC,gnomAD
PTPRF	P10586	p.Ile761Val	rs373814583	missense variant	-	NC_000001.11:g.43598881A>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile762Val	rs770807749	missense variant	-	NC_000001.11:g.43598884A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile762Leu	rs770807749	missense variant	-	NC_000001.11:g.43598884A>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp764Gly	rs1326333643	missense variant	-	NC_000001.11:g.43598891A>G	TOPMed
PTPRF	P10586	p.Val765Ile	rs377483278	missense variant	-	NC_000001.11:g.43598893G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met766Leu	rs775119587	missense variant	-	NC_000001.11:g.43598896A>T	ExAC,gnomAD
PTPRF	P10586	p.Met766Val	rs775119587	missense variant	-	NC_000001.11:g.43598896A>G	ExAC,gnomAD
PTPRF	P10586	p.Ala768Gly	rs763592362	missense variant	-	NC_000001.11:g.43598903C>G	ExAC,gnomAD
PTPRF	P10586	p.Glu769Lys	rs763465884	missense variant	-	NC_000001.11:g.43598905G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala770Val	rs752144648	missense variant	-	NC_000001.11:g.43598909C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala770Gly	rs752144648	missense variant	-	NC_000001.11:g.43598909C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala770Ser	rs766771427	missense variant	-	NC_000001.11:g.43598908G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala770Pro	rs766771427	missense variant	-	NC_000001.11:g.43598908G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg773Gln	rs760137603	missense variant	-	NC_000001.11:g.43602075G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg773Trp	rs774981977	missense variant	-	NC_000001.11:g.43602074C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu775Gln	rs1331891918	missense variant	-	NC_000001.11:g.43602080G>C	gnomAD
PTPRF	P10586	p.Glu776Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43602083G>A	NCI-TCGA
PTPRF	P10586	p.Ser777Phe	rs767930658	missense variant	-	NC_000001.11:g.43602087C>T	ExAC,gnomAD
PTPRF	P10586	p.Glu778Lys	rs1312803474	missense variant	-	NC_000001.11:g.43602089G>A	TOPMed,gnomAD
PTPRF	P10586	p.Glu778Gln	rs1312803474	missense variant	-	NC_000001.11:g.43602089G>C	TOPMed,gnomAD
PTPRF	P10586	p.Asp779Val	rs1255710727	missense variant	-	NC_000001.11:g.43602093A>T	TOPMed
PTPRF	P10586	p.Tyr780His	rs1276421514	missense variant	-	NC_000001.11:g.43602095T>C	gnomAD
PTPRF	P10586	p.Glu781Lys	rs750523020	missense variant	-	NC_000001.11:g.43603416G>A	ExAC,gnomAD
PTPRF	P10586	p.Thr782Ile	rs779932793	missense variant	-	NC_000001.11:g.43603420C>T	ExAC,gnomAD
PTPRF	P10586	p.Thr782Ala	rs370538618	missense variant	-	NC_000001.11:g.43603419A>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr783Ile	rs751561553	missense variant	-	NC_000001.11:g.43603423C>T	ExAC,gnomAD
PTPRF	P10586	p.Ile784Val	rs201466491	missense variant	-	NC_000001.11:g.43603425A>G	1000Genomes,TOPMed
PTPRF	P10586	p.Ser785Gly	rs754712346	missense variant	-	NC_000001.11:g.43603428A>G	ExAC,gnomAD
PTPRF	P10586	p.Ser785Arg	rs777222498	missense variant	-	NC_000001.11:g.43603430C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly786Cys	rs747692299	missense variant	-	NC_000001.11:g.43603431G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly786Ser	rs747692299	missense variant	-	NC_000001.11:g.43603431G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly786Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43603432G>A	NCI-TCGA
PTPRF	P10586	p.Thr788Ala	rs1400192914	missense variant	-	NC_000001.11:g.43603437A>G	gnomAD
PTPRF	P10586	p.Thr788Ile	rs777372045	missense variant	-	NC_000001.11:g.43603438C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro789Gln	rs1187179916	missense variant	-	NC_000001.11:g.43603441C>A	TOPMed,gnomAD
PTPRF	P10586	p.Pro789Ser	rs1043165223	missense variant	-	NC_000001.11:g.43603440C>T	TOPMed,gnomAD
PTPRF	P10586	p.Pro789Ala	rs1043165223	missense variant	-	NC_000001.11:g.43603440C>G	TOPMed,gnomAD
PTPRF	P10586	p.Glu790Asp	rs746393821	missense variant	-	NC_000001.11:g.43603445G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu790Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.43603443G>T	NCI-TCGA
PTPRF	P10586	p.Ser794Phe	rs1396097094	missense variant	-	NC_000001.11:g.43603456C>T	TOPMed
PTPRF	P10586	p.Val795Ile	rs572629636	missense variant	-	NC_000001.11:g.43603458G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val795Phe	rs572629636	missense variant	-	NC_000001.11:g.43603458G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Tyr800Ser	COSM6063475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603474A>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Thr802Ala	rs200312726	missense variant	-	NC_000001.11:g.43603479A>G	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala807Ser	rs1216144298	missense variant	-	NC_000001.11:g.43603494G>T	gnomAD
PTPRF	P10586	p.Arg808Cys	rs1425563157	missense variant	-	NC_000001.11:g.43603497C>T	gnomAD
PTPRF	P10586	p.Arg808His	rs773461058	missense variant	-	NC_000001.11:g.43603498G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys810Arg	rs763012613	missense variant	-	NC_000001.11:g.43603504A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro811Ser	COSM3489980	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603506C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Pro811His	rs766501071	missense variant	-	NC_000001.11:g.43603507C>A	ExAC,gnomAD
PTPRF	P10586	p.Pro811Leu	rs766501071	missense variant	-	NC_000001.11:g.43603507C>T	ExAC,gnomAD
PTPRF	P10586	p.Ile813Met	rs754943489	missense variant	-	NC_000001.11:g.43603514T>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile813Thr	rs751390769	missense variant	-	NC_000001.11:g.43603513T>C	ExAC,gnomAD
PTPRF	P10586	p.Val814Ile	rs1455058213	missense variant	-	NC_000001.11:g.43603515G>A	TOPMed
PTPRF	P10586	p.Gly818Asp	rs1420141737	missense variant	-	NC_000001.11:g.43603528G>A	gnomAD
PTPRF	P10586	p.Arg823Gln	rs565543436	missense variant	-	NC_000001.11:g.43603620G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg823Pro	rs565543436	missense variant	-	NC_000001.11:g.43603620G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg823Trp	rs756975863	missense variant	-	NC_000001.11:g.43603619C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg823Gly	rs756975863	missense variant	-	NC_000001.11:g.43603619C>G	ExAC,gnomAD
PTPRF	P10586	p.Pro824Ser	rs1378330342	missense variant	-	NC_000001.11:g.43603622C>T	gnomAD
PTPRF	P10586	p.Thr825Ala	rs757885367	missense variant	-	NC_000001.11:g.43603625A>G	ExAC,gnomAD
PTPRF	P10586	p.Met826Val	rs912770030	missense variant	-	NC_000001.11:g.43603628A>G	TOPMed
PTPRF	P10586	p.Thr830Ala	rs781719563	missense variant	-	NC_000001.11:g.43603640A>G	ExAC,gnomAD
PTPRF	P10586	p.Thr831Met	rs367652888	missense variant	-	NC_000001.11:g.43603644C>T	ESP,ExAC,gnomAD
PTPRF	P10586	p.Ala832Thr	rs928654396	missense variant	-	NC_000001.11:g.43603646G>A	TOPMed
PTPRF	P10586	p.Met833Val	rs749468850	missense variant	-	NC_000001.11:g.43603649A>G	ExAC,gnomAD
PTPRF	P10586	p.Met833Leu	rs749468850	missense variant	-	NC_000001.11:g.43603649A>T	ExAC,gnomAD
PTPRF	P10586	p.Met833Thr	rs774490865	missense variant	-	NC_000001.11:g.43603650T>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met833Ile	rs759632662	missense variant	-	NC_000001.11:g.43603651G>A	ExAC,gnomAD
PTPRF	P10586	p.Thr835Ser	rs772113752	missense variant	-	NC_000001.11:g.43603656C>G	ExAC,gnomAD
PTPRF	P10586	p.Ala836Glu	rs775486548	missense variant	-	NC_000001.11:g.43603659C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala836Val	rs775486548	missense variant	-	NC_000001.11:g.43603659C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu838Val	rs763916687	missense variant	-	NC_000001.11:g.43603664C>G	ExAC,gnomAD
PTPRF	P10586	p.Gln839Arg	rs1400453918	missense variant	-	NC_000001.11:g.43603668A>G	gnomAD
PTPRF	P10586	p.Pro842Ser	rs1465532015	missense variant	-	NC_000001.11:g.43603676C>T	gnomAD
PTPRF	P10586	p.Lys844Arg	rs761748789	missense variant	-	NC_000001.11:g.43603683A>G	ExAC,gnomAD
PTPRF	P10586	p.Glu845Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43603685G>C	NCI-TCGA
PTPRF	P10586	p.Glu849Gly	rs757908835	missense variant	-	NC_000001.11:g.43603698A>G	ExAC,gnomAD
PTPRF	P10586	p.Glu849Lys	rs1343911174	missense variant	-	NC_000001.11:g.43603697G>A	TOPMed,gnomAD
PTPRF	P10586	p.Leu850Pro	rs1258769633	missense variant	-	NC_000001.11:g.43603701T>C	gnomAD
PTPRF	P10586	p.Arg854Gln	rs140594531	missense variant	-	NC_000001.11:g.43603713G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg854Trp	rs1317417745	missense variant	-	NC_000001.11:g.43603712C>T	gnomAD
PTPRF	P10586	p.Gln856Arg	rs1308478616	missense variant	-	NC_000001.11:g.43603719A>G	TOPMed
PTPRF	P10586	p.Cys858Ser	rs756642128	missense variant	-	NC_000001.11:g.43603724T>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg859Leu	rs567638313	missense variant	-	NC_000001.11:g.43603728G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg859Pro	rs567638313	missense variant	-	NC_000001.11:g.43603728G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg859Trp	rs903248544	missense variant	-	NC_000001.11:g.43603727C>T	TOPMed,gnomAD
PTPRF	P10586	p.Arg859Gln	rs567638313	missense variant	-	NC_000001.11:g.43603728G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala860Pro	rs779194364	missense variant	-	NC_000001.11:g.43603730G>C	ExAC,gnomAD
PTPRF	P10586	p.Ala860Thr	rs779194364	missense variant	-	NC_000001.11:g.43603730G>A	ExAC,gnomAD
PTPRF	P10586	p.Ala860Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43603731C>T	NCI-TCGA
PTPRF	P10586	p.Asp861Glu	rs1168878964	missense variant	-	NC_000001.11:g.43603735C>A	gnomAD
PTPRF	P10586	p.Asp861Asn	rs775437828	missense variant	-	NC_000001.11:g.43603733G>A	ExAC,gnomAD
PTPRF	P10586	p.Glu862Lys	rs536681179	missense variant	-	NC_000001.11:g.43603736G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala863Val	rs144536559	missense variant	-	NC_000001.11:g.43603740C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg864Gln	rs764998994	missense variant	-	NC_000001.11:g.43603743G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg864Trp	rs761693767	missense variant	-	NC_000001.11:g.43603742C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn866Asp	rs750031933	missense variant	-	NC_000001.11:g.43603748A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr867Ser	rs556307288	missense variant	-	NC_000001.11:g.43603752C>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Thr867Ala	rs1339921157	missense variant	-	NC_000001.11:g.43603751A>G	gnomAD
PTPRF	P10586	p.Ile868Val	rs141782417	missense variant	-	NC_000001.11:g.43603754A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp869Gly	rs1253788010	missense variant	-	NC_000001.11:g.43603758A>G	TOPMed
PTPRF	P10586	p.Asp869Glu	rs199942675	missense variant	-	NC_000001.11:g.43603759T>G	1000Genomes
PTPRF	P10586	p.Asp869Asn	rs751089120	missense variant	-	NC_000001.11:g.43603757G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp869Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43603757G>T	NCI-TCGA
PTPRF	P10586	p.Gly871Ser	rs778225680	missense variant	-	NC_000001.11:g.43603763G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly871Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43603764G>A	NCI-TCGA
PTPRF	P10586	p.Asp873Ala	rs374488420	missense variant	-	NC_000001.11:g.43603770A>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp873Gly	rs374488420	missense variant	-	NC_000001.11:g.43603770A>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp873Asn	rs757630823	missense variant	-	NC_000001.11:g.43603769G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp874Asn	rs758580532	missense variant	-	NC_000001.11:g.43603772G>A	ExAC,gnomAD
PTPRF	P10586	p.Asp874Val	rs780471380	missense variant	-	NC_000001.11:g.43603773A>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln875Ter	rs768921761	stop gained	-	NC_000001.11:g.43603775C>T	ExAC,gnomAD
PTPRF	P10586	p.Val879Ala	rs776694646	missense variant	-	NC_000001.11:g.43603788T>C	ExAC,gnomAD
PTPRF	P10586	p.Thr880Ser	rs748106240	missense variant	-	NC_000001.11:g.43603790A>T	ExAC,gnomAD
PTPRF	P10586	p.Gly881Ser	rs143833153	missense variant	-	NC_000001.11:g.43603793G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.His883Gln	rs1380026703	missense variant	-	NC_000001.11:g.43603801C>G	gnomAD
PTPRF	P10586	p.His883Arg	rs762614069	missense variant	-	NC_000001.11:g.43603800A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys884Asn	rs1396031076	missense variant	-	NC_000001.11:g.43603804G>T	TOPMed
PTPRF	P10586	p.Gly885Glu	COSM4903403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603806G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Gly885Trp	rs1386301338	missense variant	-	NC_000001.11:g.43603805G>T	TOPMed
PTPRF	P10586	p.Thr886Ala	rs1228814877	missense variant	-	NC_000001.11:g.43603808A>G	TOPMed,gnomAD
PTPRF	P10586	p.Thr887Ile	rs765928388	missense variant	-	NC_000001.11:g.43603812C>T	ExAC,gnomAD
PTPRF	P10586	p.Tyr888Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43603815A>T	NCI-TCGA
PTPRF	P10586	p.Ile889Val	rs759047074	missense variant	-	NC_000001.11:g.43603817A>G	ExAC,gnomAD
PTPRF	P10586	p.Arg891Gln	rs199570599	missense variant	-	NC_000001.11:g.43603824G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg891Trp	rs767075536	missense variant	-	NC_000001.11:g.43603823C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg891Leu	rs199570599	missense variant	-	NC_000001.11:g.43603824G>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg891Gly	rs767075536	missense variant	-	NC_000001.11:g.43603823C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala894Thr	rs765598646	missense variant	-	NC_000001.11:g.43603832G>A	ExAC,gnomAD
PTPRF	P10586	p.Asn896Lys	rs1186558185	missense variant	-	NC_000001.11:g.43603840C>G	TOPMed
PTPRF	P10586	p.Arg897Gly	rs374013593	missense variant	-	NC_000001.11:g.43603841C>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg897Trp	rs374013593	missense variant	-	NC_000001.11:g.43603841C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg897Gln	rs149018733	missense variant	-	NC_000001.11:g.43603842G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala898Thr	rs1183508834	missense variant	-	NC_000001.11:g.43603844G>A	gnomAD
PTPRF	P10586	p.Gly899Ser	rs780417996	missense variant	-	NC_000001.11:g.43603847G>A	ExAC,gnomAD
PTPRF	P10586	p.Leu900Trp	rs1215219655	missense variant	-	NC_000001.11:g.43603851T>G	TOPMed
PTPRF	P10586	p.Leu900Met	rs747292574	missense variant	-	NC_000001.11:g.43603850T>A	ExAC,gnomAD
PTPRF	P10586	p.Gly901Ser	rs921513300	missense variant	-	NC_000001.11:g.43603853G>A	gnomAD
PTPRF	P10586	p.Glu902Gln	rs1399141346	missense variant	-	NC_000001.11:g.43603856G>C	gnomAD
PTPRF	P10586	p.Phe904Leu	rs146318210	missense variant	-	NC_000001.11:g.43603864C>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Phe904Leu	rs146318210	missense variant	-	NC_000001.11:g.43603864C>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu905Gln	rs143093912	missense variant	-	NC_000001.11:g.43603865G>C	ESP,ExAC,gnomAD
PTPRF	P10586	p.Glu905Lys	rs143093912	missense variant	-	NC_000001.11:g.43603865G>A	ESP,ExAC,gnomAD
PTPRF	P10586	p.Lys906Thr	rs1452022275	missense variant	-	NC_000001.11:g.43603869A>C	gnomAD
PTPRF	P10586	p.Glu907Lys	rs773247312	missense variant	-	NC_000001.11:g.43603871G>A	ExAC,gnomAD
PTPRF	P10586	p.Glu912Lys	rs138034295	missense variant	-	NC_000001.11:g.43603886G>A	ESP
PTPRF	P10586	p.Glu912Ala	rs770780891	missense variant	-	NC_000001.11:g.43603887A>C	ExAC,gnomAD
PTPRF	P10586	p.Leu914Met	rs1327537333	missense variant	-	NC_000001.11:g.43603892C>A	TOPMed
PTPRF	P10586	p.Gly917Ser	rs1372400634	missense variant	-	NC_000001.11:g.43603901G>A	gnomAD
PTPRF	P10586	p.Phe918Tyr	rs1221716037	missense variant	-	NC_000001.11:g.43603905T>A	gnomAD
PTPRF	P10586	p.Gln920Arg	rs759204249	missense variant	-	NC_000001.11:g.43603911A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn921Lys	COSM909872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603915C>A	NCI-TCGA Cosmic
PTPRF	P10586	p.His923Arg	rs201215550	missense variant	-	NC_000001.11:g.43603920A>G	1000Genomes,gnomAD
PTPRF	P10586	p.Thr925Ser	rs1202491441	missense variant	-	NC_000001.11:g.43603925A>T	gnomAD
PTPRF	P10586	p.Thr929Met	rs371676929	missense variant	-	NC_000001.11:g.43603938C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu933Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.43603949G>T	NCI-TCGA
PTPRF	P10586	p.Leu934Pro	rs1162437393	missense variant	-	NC_000001.11:g.43603953T>C	TOPMed
PTPRF	P10586	p.Ala935Val	rs765630159	missense variant	-	NC_000001.11:g.43603956C>T	ExAC,gnomAD
PTPRF	P10586	p.Asp937Gly	rs758676706	missense variant	-	NC_000001.11:g.43603962A>G	ExAC,gnomAD
PTPRF	P10586	p.Asp937Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43603961G>T	NCI-TCGA
PTPRF	P10586	p.Pro938Leu	rs200617199	missense variant	-	NC_000001.11:g.43603965C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro938Thr	rs1374746151	missense variant	-	NC_000001.11:g.43603964C>A	TOPMed
PTPRF	P10586	p.Leu941Val	rs200457473	missense variant	-	NC_000001.11:g.43603973C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala942Val	rs144156070	missense variant	-	NC_000001.11:g.43603977C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg944Lys	COSM3489982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43603983G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Asn945Lys	rs368237069	missense variant	-	NC_000001.11:g.43603987C>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly946Arg	rs1439775308	missense variant	-	NC_000001.11:g.43603988G>A	TOPMed,gnomAD
PTPRF	P10586	p.Arg947Leu	rs749309238	missense variant	-	NC_000001.11:g.43603992G>T	ExAC,TOPMed
PTPRF	P10586	p.Arg947His	rs749309238	missense variant	-	NC_000001.11:g.43603992G>A	ExAC,TOPMed
PTPRF	P10586	p.Arg947Cys	rs372831256	missense variant	-	NC_000001.11:g.43603991C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile949Val	rs770658279	missense variant	-	NC_000001.11:g.43603997A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser950Arg	rs1319465451	missense variant	-	NC_000001.11:g.43604000A>C	gnomAD
PTPRF	P10586	p.Ser950Gly	rs1319465451	missense variant	-	NC_000001.11:g.43604000A>G	gnomAD
PTPRF	P10586	p.Ser950Thr	rs377187728	missense variant	-	NC_000001.11:g.43604001G>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr952Ile	rs531936522	missense variant	-	NC_000001.11:g.43604007C>T	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Val953Met	rs763045167	missense variant	-	NC_000001.11:g.43604009G>A	ExAC,gnomAD
PTPRF	P10586	p.Val954Met	rs773533532	missense variant	-	NC_000001.11:g.43604012G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg956Leu	rs141556963	missense variant	-	NC_000001.11:g.43604019G>T	ESP,TOPMed
PTPRF	P10586	p.Arg956Gln	rs141556963	missense variant	-	NC_000001.11:g.43604019G>A	ESP,TOPMed
PTPRF	P10586	p.Asp957His	rs967562018	missense variant	-	NC_000001.11:g.43604021G>C	TOPMed,gnomAD
PTPRF	P10586	p.Ile958Leu	rs763519084	missense variant	-	NC_000001.11:g.43604024A>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn959Ser	rs1168370988	missense variant	-	NC_000001.11:g.43604028A>G	TOPMed,gnomAD
PTPRF	P10586	p.Asn959Ile	rs1168370988	missense variant	-	NC_000001.11:g.43604028A>T	TOPMed,gnomAD
PTPRF	P10586	p.Gln962Ter	rs766805311	stop gained	-	NC_000001.11:g.43604036C>T	ExAC,gnomAD
PTPRF	P10586	p.Gln962Arg	rs1407965948	missense variant	-	NC_000001.11:g.43604037A>G	gnomAD
PTPRF	P10586	p.Glu963Ala	rs760025156	missense variant	-	NC_000001.11:g.43604040A>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu963Lys	rs751990346	missense variant	-	NC_000001.11:g.43604039G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr968Met	rs767813886	missense variant	-	NC_000001.11:g.43604055C>T	ExAC,gnomAD
PTPRF	P10586	p.Thr969Ala	rs559214265	missense variant	-	NC_000001.11:g.43604057A>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Asp970Glu	rs1230582995	missense variant	-	NC_000001.11:g.43604062C>A	gnomAD
PTPRF	P10586	p.Asp970His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43604060G>C	NCI-TCGA
PTPRF	P10586	p.Arg972Leu	rs753655848	missense variant	-	NC_000001.11:g.43604067G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg972His	rs753655848	missense variant	-	NC_000001.11:g.43604067G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg972Cys	rs150944733	missense variant	-	NC_000001.11:g.43604066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly977Asp	rs369570389	missense variant	-	NC_000001.11:g.43604082G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp981Gly	rs778630314	missense variant	-	NC_000001.11:g.43604094A>G	ExAC,gnomAD
PTPRF	P10586	p.Thr982Ala	rs942033991	missense variant	-	NC_000001.11:g.43604096A>G	TOPMed,gnomAD
PTPRF	P10586	p.Thr983Ala	rs771919313	missense variant	-	NC_000001.11:g.43604099A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr983Ser	rs771919313	missense variant	-	NC_000001.11:g.43604099A>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr983Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43604100C>T	NCI-TCGA
PTPRF	P10586	p.Asp985Asn	rs150026558	missense variant	-	NC_000001.11:g.43604105G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp985His	rs150026558	missense variant	-	NC_000001.11:g.43604105G>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp985Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43604106A>T	NCI-TCGA
PTPRF	P10586	p.Ile986Thr	rs776232578	missense variant	-	NC_000001.11:g.43604109T>C	ExAC,gnomAD
PTPRF	P10586	p.Lys987Arg	rs763500218	missense variant	-	NC_000001.11:g.43604112A>G	ExAC,gnomAD
PTPRF	P10586	p.Arg989Ser	rs1382248110	missense variant	-	NC_000001.11:g.43604117C>A	gnomAD
PTPRF	P10586	p.Arg989His	rs548061948	missense variant	-	NC_000001.11:g.43604118G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg989Cys	rs1382248110	missense variant	-	NC_000001.11:g.43604117C>T	gnomAD
PTPRF	P10586	p.Ala990Ser	rs759978013	missense variant	-	NC_000001.11:g.43604120G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala990Thr	rs759978013	missense variant	-	NC_000001.11:g.43604120G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser993Arg	rs1316424363	missense variant	-	NC_000001.11:g.43604129A>C	gnomAD
PTPRF	P10586	p.Gly995Val	rs767986292	missense variant	-	NC_000001.11:g.43604136G>T	ExAC,gnomAD
PTPRF	P10586	p.Ser996Tyr	rs142730107	missense variant	-	NC_000001.11:g.43604139C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser996Phe	rs142730107	missense variant	-	NC_000001.11:g.43604139C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro998Ala	rs1336043622	missense variant	-	NC_000001.11:g.43604144C>G	TOPMed
PTPRF	P10586	p.Pro1001Ser	rs760959754	missense variant	-	NC_000001.11:g.43604153C>T	ExAC,gnomAD
PTPRF	P10586	p.Ser1002Gly	rs1204814396	missense variant	-	NC_000001.11:g.43604156A>G	gnomAD
PTPRF	P10586	p.Arg1006Trp	rs764041935	missense variant	-	NC_000001.11:g.43604168C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1006Gln	rs372819126	missense variant	-	NC_000001.11:g.43604169G>A	1000Genomes,ESP,ExAC,gnomAD
PTPRF	P10586	p.Pro1009Ser	rs890253672	missense variant	-	NC_000001.11:g.43604177C>T	TOPMed,gnomAD
PTPRF	P10586	p.Pro1009Thr	rs890253672	missense variant	-	NC_000001.11:g.43604177C>A	TOPMed,gnomAD
PTPRF	P10586	p.Pro1009Leu	rs765129553	missense variant	-	NC_000001.11:g.43604178C>T	ExAC,gnomAD
PTPRF	P10586	p.Val1010Leu	rs758129822	missense variant	-	NC_000001.11:g.43604180G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1010Met	rs758129822	missense variant	-	NC_000001.11:g.43604180G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1012Arg	COSM909874	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43604187A>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Lys1016Glu	rs776774997	missense variant	-	NC_000001.11:g.43604911A>G	ExAC,gnomAD
PTPRF	P10586	p.Lys1016Arg	rs373189867	missense variant	-	NC_000001.11:g.43604912A>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1019Gln	rs376126555	missense variant	-	NC_000001.11:g.43604921G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1019Gly	rs1479176471	missense variant	-	NC_000001.11:g.43604920C>G	TOPMed,gnomAD
PTPRF	P10586	p.Arg1019Trp	rs1479176471	missense variant	-	NC_000001.11:g.43604920C>T	TOPMed,gnomAD
PTPRF	P10586	p.Ala1021Val	rs147874335	missense variant	-	NC_000001.11:g.43604927C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1021Glu	rs147874335	missense variant	-	NC_000001.11:g.43604927C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1021Thr	rs1296789107	missense variant	-	NC_000001.11:g.43604926G>A	TOPMed,gnomAD
PTPRF	P10586	p.Met1024Thr	rs767435818	missense variant	-	NC_000001.11:g.43604936T>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys1025Asn	rs1236358043	missense variant	-	NC_000001.11:g.43604940G>C	gnomAD
PTPRF	P10586	p.Thr1026Arg	rs752333602	missense variant	-	NC_000001.11:g.43604942C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr1026Met	rs752333602	missense variant	-	NC_000001.11:g.43604942C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1033Lys	rs753377322	missense variant	-	NC_000001.11:g.43604962G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1033Gln	rs753377322	missense variant	-	NC_000001.11:g.43604962G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1034Ala	rs1203710565	missense variant	-	NC_000001.11:g.43604966T>C	TOPMed
PTPRF	P10586	p.Val1034Phe	rs1226668425	missense variant	-	NC_000001.11:g.43604965G>T	gnomAD
PTPRF	P10586	p.Pro1035Ala	COSM681270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43604968C>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Asp1036Asn	rs780607373	missense variant	-	NC_000001.11:g.43604971G>A	ExAC,gnomAD
PTPRF	P10586	p.Tyr1038Asn	rs1489613514	missense variant	-	NC_000001.11:g.43604977T>A	gnomAD
PTPRF	P10586	p.Tyr1038Cys	rs768996333	missense variant	-	NC_000001.11:g.43604978A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1041Ser	rs1428406780	missense variant	-	NC_000001.11:g.43604986G>T	gnomAD
PTPRF	P10586	p.Ala1041Val	rs1169040424	missense variant	-	NC_000001.11:g.43604987C>T	gnomAD
PTPRF	P10586	p.Pro1043Ser	rs1387459525	missense variant	-	NC_000001.11:g.43604992C>T	gnomAD
PTPRF	P10586	p.Leu1047Val	rs996563431	missense variant	-	NC_000001.11:g.43605193C>G	TOPMed
PTPRF	P10586	p.Asn1049His	rs749482455	missense variant	-	NC_000001.11:g.43605199A>C	ExAC,gnomAD
PTPRF	P10586	p.Gly1050Glu	rs1336067113	missense variant	-	NC_000001.11:g.43605203G>A	gnomAD
PTPRF	P10586	p.Gly1050Arg	rs1470249056	missense variant	-	NC_000001.11:g.43605202G>A	gnomAD
PTPRF	P10586	p.Gln1051His	COSM4837999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605207G>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Gln1051His	rs774328700	missense variant	-	NC_000001.11:g.43605207G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1053Met	rs1226243678	missense variant	-	NC_000001.11:g.43605211G>A	TOPMed,gnomAD
PTPRF	P10586	p.Val1055Leu	rs372260512	missense variant	-	NC_000001.11:g.43605217G>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1055Met	rs372260512	missense variant	-	NC_000001.11:g.43605217G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1056Val	rs775609904	missense variant	-	NC_000001.11:g.43605221A>T	ExAC,gnomAD
PTPRF	P10586	p.Gly1057Glu	rs776291761	missense variant	-	NC_000001.11:g.43605224G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1057Arg	rs764039671	missense variant	-	NC_000001.11:g.43605223G>A	ExAC,gnomAD
PTPRF	P10586	p.Ser1059Leu	rs761400999	missense variant	-	NC_000001.11:g.43605230C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met1060Val	rs1479762337	missense variant	-	NC_000001.11:g.43605232A>G	gnomAD
PTPRF	P10586	p.Arg1061Gln	rs562011415	missense variant	-	NC_000001.11:g.43605236G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1061Trp	rs571838340	missense variant	-	NC_000001.11:g.43605235C>T	ExAC,gnomAD
PTPRF	P10586	p.Lys1062Arg	rs185189309	missense variant	-	NC_000001.11:g.43605239A>G	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile1064Val	rs937549257	missense variant	-	NC_000001.11:g.43605244A>G	TOPMed,gnomAD
PTPRF	P10586	p.Ala1065Thr	rs749489783	missense variant	-	NC_000001.11:g.43605247G>A	ExAC,gnomAD
PTPRF	P10586	p.Gln1068Arg	rs138775864	missense variant	-	NC_000001.11:g.43605257A>G	ESP,ExAC,gnomAD
PTPRF	P10586	p.Pro1069Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43605260C>T	NCI-TCGA
PTPRF	P10586	p.Pro1069Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43605259C>G	NCI-TCGA
PTPRF	P10586	p.Thr1071Ala	rs1345537230	missense variant	-	NC_000001.11:g.43605265A>G	gnomAD
PTPRF	P10586	p.Thr1071Arg	rs1222402946	missense variant	-	NC_000001.11:g.43605266C>G	gnomAD
PTPRF	P10586	p.Glu1072Lys	rs201157421	missense variant	-	NC_000001.11:g.43605268G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1072Val	rs1309209393	missense variant	-	NC_000001.11:g.43605269A>T	TOPMed
PTPRF	P10586	p.Glu1072Gln	rs201157421	missense variant	-	NC_000001.11:g.43605268G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser1074Trp	COSM464661	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605275C>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Ser1074Leu	rs772345902	missense variant	-	NC_000001.11:g.43605275C>T	ExAC,gnomAD
PTPRF	P10586	p.Val1076Glu	rs746959174	missense variant	-	NC_000001.11:g.43605281T>A	ExAC,gnomAD
PTPRF	P10586	p.Met1078Ile	COSM3489987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605288G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Met1078Val	rs1269874113	missense variant	-	NC_000001.11:g.43605286A>G	gnomAD
PTPRF	P10586	p.Arg1080His	rs1169752499	missense variant	-	NC_000001.11:g.43605293G>A	TOPMed
PTPRF	P10586	p.Arg1080Cys	rs776311252	missense variant	-	NC_000001.11:g.43605292C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser1082Arg	rs761716835	missense variant	-	NC_000001.11:g.43605300C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser1083Gly	rs764765679	missense variant	-	NC_000001.11:g.43605301A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1084Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43605304G>T	NCI-TCGA
PTPRF	P10586	p.Gly1086Ala	rs1446354822	missense variant	-	NC_000001.11:g.43605311G>C	TOPMed,gnomAD
PTPRF	P10586	p.Gly1086Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43605311G>A	NCI-TCGA
PTPRF	P10586	p.Arg1094Ser	rs374873502	missense variant	-	NC_000001.11:g.43605334C>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1094Leu	rs1427598531	missense variant	-	NC_000001.11:g.43605335G>T	gnomAD
PTPRF	P10586	p.Arg1094Cys	rs374873502	missense variant	-	NC_000001.11:g.43605334C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1094His	rs1427598531	missense variant	-	NC_000001.11:g.43605335G>A	gnomAD
PTPRF	P10586	p.Thr1095Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43605337A>C	NCI-TCGA
PTPRF	P10586	p.Ala1096Val	rs1365828057	missense variant	-	NC_000001.11:g.43605341C>T	gnomAD
PTPRF	P10586	p.Asp1098Ala	rs1052391678	missense variant	-	NC_000001.11:g.43605347A>C	gnomAD
PTPRF	P10586	p.Asp1098Asn	rs369561113	missense variant	-	NC_000001.11:g.43605346G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1098Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43605346G>T	NCI-TCGA
PTPRF	P10586	p.Pro1101Leu	rs1270142418	missense variant	-	NC_000001.11:g.43605356C>T	gnomAD
PTPRF	P10586	p.His1102Tyr	rs1340394688	missense variant	-	NC_000001.11:g.43605358C>T	gnomAD
PTPRF	P10586	p.His1102Gln	rs1292713576	missense variant	-	NC_000001.11:g.43605360C>A	gnomAD
PTPRF	P10586	p.His1102Arg	rs908069420	missense variant	-	NC_000001.11:g.43605359A>G	TOPMed,gnomAD
PTPRF	P10586	p.Pro1104Leu	rs756648293	missense variant	-	NC_000001.11:g.43605365C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro1106Ala	rs556597635	missense variant	-	NC_000001.11:g.43605370C>G	TOPMed,gnomAD
PTPRF	P10586	p.Pro1106His	rs1040485073	missense variant	-	NC_000001.11:g.43605371C>A	TOPMed
PTPRF	P10586	p.Ser1108Phe	rs1193744322	missense variant	-	NC_000001.11:g.43605377C>T	gnomAD
PTPRF	P10586	p.Ala1109Thr	rs1241454644	missense variant	-	NC_000001.11:g.43605379G>A	TOPMed,gnomAD
PTPRF	P10586	p.Tyr1110Cys	rs922030109	missense variant	-	NC_000001.11:g.43605383A>G	TOPMed
PTPRF	P10586	p.Ile1111Val	rs754133916	missense variant	-	NC_000001.11:g.43605385A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1113Gly	rs1466581866	missense variant	-	NC_000001.11:g.43605392A>G	TOPMed
PTPRF	P10586	p.Gly1114Ser	rs746151545	missense variant	-	NC_000001.11:g.43605394G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1114Asp	rs1470313594	missense variant	-	NC_000001.11:g.43605395G>A	gnomAD
PTPRF	P10586	p.Arg1115His	rs780287442	missense variant	-	NC_000001.11:g.43605398G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1115Cys	rs758496561	missense variant	-	NC_000001.11:g.43605397C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1117Asn	rs372991117	missense variant	-	NC_000001.11:g.43605403G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1117Tyr	rs372991117	missense variant	-	NC_000001.11:g.43605403G>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met1120Val	rs147294972	missense variant	-	NC_000001.11:g.43605412A>G	ESP,ExAC,gnomAD
PTPRF	P10586	p.Met1120Leu	rs147294972	missense variant	-	NC_000001.11:g.43605412A>T	ESP,ExAC,gnomAD
PTPRF	P10586	p.Met1120Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43605413T>C	NCI-TCGA
PTPRF	P10586	p.Pro1121Ser	rs1249672058	missense variant	-	NC_000001.11:g.43605415C>T	TOPMed
PTPRF	P10586	p.His1122Tyr	rs1316134423	missense variant	-	NC_000001.11:g.43605418C>T	gnomAD
PTPRF	P10586	p.Val1123Met	rs1052346675	missense variant	-	NC_000001.11:g.43605421G>A	TOPMed,gnomAD
PTPRF	P10586	p.Val1123Leu	rs1052346675	missense variant	-	NC_000001.11:g.43605421G>T	TOPMed,gnomAD
PTPRF	P10586	p.Gln1124His	rs762596997	missense variant	-	NC_000001.11:g.43605426A>C	ExAC,gnomAD
PTPRF	P10586	p.Ser1127Leu	rs144922906	missense variant	-	NC_000001.11:g.43605434C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1128Phe	rs754439849	missense variant	-	NC_000001.11:g.43605436C>T	ExAC,gnomAD
PTPRF	P10586	p.Leu1128Pro	rs762075103	missense variant	-	NC_000001.11:g.43605437T>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1129Ile	rs1433877718	missense variant	-	NC_000001.11:g.43605439G>A	gnomAD
PTPRF	P10586	p.Trp1131Arg	rs1177703423	missense variant	-	NC_000001.11:g.43605530T>C	gnomAD
PTPRF	P10586	p.Phe1132Leu	rs754954516	missense variant	-	NC_000001.11:g.43605535C>A	ExAC,gnomAD
PTPRF	P10586	p.Val1135Ala	rs751794621	missense variant	-	NC_000001.11:g.43605543T>C	TOPMed
PTPRF	P10586	p.Val1136Leu	COSM6126671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605545G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Val1137Ala	rs1449609779	missense variant	-	NC_000001.11:g.43605549T>C	gnomAD
PTPRF	P10586	p.Val1137Met	rs1300227430	missense variant	-	NC_000001.11:g.43605548G>A	gnomAD
PTPRF	P10586	p.Ile1139Phe	rs749053302	missense variant	-	NC_000001.11:g.43605554A>T	ExAC,gnomAD
PTPRF	P10586	p.Ile1139Val	rs749053302	missense variant	-	NC_000001.11:g.43605554A>G	ExAC,gnomAD
PTPRF	P10586	p.Asp1140Glu	rs778528006	missense variant	-	NC_000001.11:g.43605559C>G	ExAC,gnomAD
PTPRF	P10586	p.Asp1140Glu	rs778528006	missense variant	-	NC_000001.11:g.43605559C>A	ExAC,gnomAD
PTPRF	P10586	p.Arg1141His	rs568722457	missense variant	-	NC_000001.11:g.43605561G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1141Leu	rs568722457	missense variant	-	NC_000001.11:g.43605561G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1141Cys	rs367745532	missense variant	-	NC_000001.11:g.43605560C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1144Arg	rs182011131	missense variant	-	NC_000001.11:g.43605569G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1144Val	COSM681267	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605570G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Gly1144Glu	rs781399271	missense variant	-	NC_000001.11:g.43605570G>A	ExAC,gnomAD
PTPRF	P10586	p.Ser1145Gly	rs1293888921	missense variant	-	NC_000001.11:g.43605572A>G	TOPMed
PTPRF	P10586	p.Met1146Val	rs368161767	missense variant	-	NC_000001.11:g.43605575A>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1147Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43605579T>C	NCI-TCGA
PTPRF	P10586	p.Thr1148Ser	rs1199546067	missense variant	-	NC_000001.11:g.43605581A>T	gnomAD
PTPRF	P10586	p.Thr1148Met	rs774648724	missense variant	-	NC_000001.11:g.43605582C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro1149Leu	rs767444947	missense variant	-	NC_000001.11:g.43605585C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1150Ser	rs1373936203	missense variant	-	NC_000001.11:g.43605589G>C	gnomAD
PTPRF	P10586	p.Arg1150Lys	rs935298487	missense variant	-	NC_000001.11:g.43605588G>A	TOPMed,gnomAD
PTPRF	P10586	p.Trp1151Arg	rs1429515335	missense variant	-	NC_000001.11:g.43605590T>C	gnomAD
PTPRF	P10586	p.Ser1152Gly	rs752802502	missense variant	-	NC_000001.11:g.43605593A>G	ExAC,gnomAD
PTPRF	P10586	p.Thr1153Ile	rs756190030	missense variant	-	NC_000001.11:g.43605597C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro1154Leu	rs764015900	missense variant	-	NC_000001.11:g.43605600C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro1154Ala	rs1405832871	missense variant	-	NC_000001.11:g.43605599C>G	gnomAD
PTPRF	P10586	p.Glu1155Lys	rs199816949	missense variant	-	NC_000001.11:g.43605602G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1155Gly	rs745474278	missense variant	-	NC_000001.11:g.43605603A>G	ExAC,gnomAD
PTPRF	P10586	p.Glu1156Gly	rs1427552012	missense variant	-	NC_000001.11:g.43605606A>G	TOPMed
PTPRF	P10586	p.Glu1158Asp	COSM6126669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43605613G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Leu1159Gln	rs779610758	missense variant	-	NC_000001.11:g.43605615T>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1159Pro	rs779610758	missense variant	-	NC_000001.11:g.43605615T>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1159Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43605614C>A	NCI-TCGA
PTPRF	P10586	p.Asp1160Asn	rs780748743	missense variant	-	NC_000001.11:g.43605617G>A	gnomAD
PTPRF	P10586	p.Glu1161Lys	rs550783962	missense variant	-	NC_000001.11:g.43605620G>A	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Ala1165Thr	rs1183169145	missense variant	-	NC_000001.11:g.43606249G>A	gnomAD
PTPRF	P10586	p.Ile1166Met	rs768685317	missense variant	-	NC_000001.11:g.43606254C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1167Gln	rs373597673	missense variant	-	NC_000001.11:g.43606255G>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1167Asp	rs761933077	missense variant	-	NC_000001.11:g.43606257G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1167Val	rs1209891475	missense variant	-	NC_000001.11:g.43606256A>T	gnomAD
PTPRF	P10586	p.Glu1167Lys	rs373597673	missense variant	-	NC_000001.11:g.43606255G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1168His	rs765214291	missense variant	-	NC_000001.11:g.43606260A>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1169Asp	rs750382273	missense variant	-	NC_000001.11:g.43606262G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1170Arg	rs766088168	missense variant	-	NC_000001.11:g.43606264G>A	ExAC,gnomAD
PTPRF	P10586	p.Glu1171Gln	COSM4836094	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43606267G>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Glu1171Lys	rs540407495	missense variant	-	NC_000001.11:g.43606267G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1172Gly	rs1469140370	missense variant	-	NC_000001.11:g.43606271A>G	TOPMed
PTPRF	P10586	p.Gln1173Ter	rs754700311	stop gained	-	NC_000001.11:g.43606273C>T	ExAC,gnomAD
PTPRF	P10586	p.Gln1173Arg	rs1041522982	missense variant	-	NC_000001.11:g.43606274A>G	TOPMed
PTPRF	P10586	p.Gln1173Glu	rs754700311	missense variant	-	NC_000001.11:g.43606273C>G	ExAC,gnomAD
PTPRF	P10586	p.Arg1174Trp	rs549143666	missense variant	-	NC_000001.11:g.43606276C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1174Gln	rs377569778	missense variant	-	NC_000001.11:g.43606277G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1175Gln	rs200483026	missense variant	-	NC_000001.11:g.43606280G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1175Trp	rs755754272	missense variant	-	NC_000001.11:g.43606279C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1175Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43606280G>C	NCI-TCGA
PTPRF	P10586	p.Arg1176Trp	rs368885602	missense variant	-	NC_000001.11:g.43606282C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1176Gln	rs772418794	missense variant	-	NC_000001.11:g.43606283G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1177Trp	rs369419270	missense variant	-	NC_000001.11:g.43606285C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1177Gln	rs202117609	missense variant	-	NC_000001.11:g.43606286G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1178Gln	rs140315523	missense variant	-	NC_000001.11:g.43606289G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1178Trp	rs768846692	missense variant	-	NC_000001.11:g.43606288C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1179Arg	rs1309641384	missense variant	-	NC_000001.11:g.43606292A>G	gnomAD
PTPRF	P10586	p.Glu1181Lys	rs1315505195	missense variant	-	NC_000001.11:g.43606297G>A	gnomAD
PTPRF	P10586	p.Arg1182Cys	rs1037410695	missense variant	-	NC_000001.11:g.43606300C>T	TOPMed,gnomAD
PTPRF	P10586	p.Arg1182His	rs138093418	missense variant	-	NC_000001.11:g.43606301G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1183Val	rs530770514	missense variant	-	NC_000001.11:g.43606303C>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Lys1184Arg	rs775642672	missense variant	-	NC_000001.11:g.43606307A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro1185Gln	rs766148161	missense variant	-	NC_000001.11:g.43606310C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro1185Leu	rs766148161	missense variant	-	NC_000001.11:g.43606310C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1188Ser	rs759442309	missense variant	-	NC_000001.11:g.43606318G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1189Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43606321G>A	NCI-TCGA
PTPRF	P10586	p.Leu1191Met	rs752458078	missense variant	-	NC_000001.11:g.43606327C>A	ExAC,gnomAD
PTPRF	P10586	p.Asp1192Asn	rs755593552	missense variant	-	NC_000001.11:g.43606330G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1193Met	rs763517386	missense variant	-	NC_000001.11:g.43606333G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1194Pro	rs150503655	missense variant	-	NC_000001.11:g.43606337T>C	ESP,TOPMed
PTPRF	P10586	p.Pro1195Leu	rs748552530	missense variant	-	NC_000001.11:g.43606340C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr1199Ile	rs748370657	missense variant	-	NC_000001.11:g.43606352C>T	ExAC,gnomAD
PTPRF	P10586	p.Leu1200Val	rs1292584776	missense variant	-	NC_000001.11:g.43606354T>G	gnomAD
PTPRF	P10586	p.Asp1202Asn	rs1451115204	missense variant	-	NC_000001.11:g.43606360G>A	gnomAD
PTPRF	P10586	p.Asn1205Ser	rs200885607	missense variant	-	NC_000001.11:g.43606370A>G	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1207Trp	rs368723795	missense variant	-	NC_000001.11:g.43606375C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1207Gln	rs770740453	missense variant	-	NC_000001.11:g.43606376G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1208Asp	rs774497940	missense variant	-	NC_000001.11:g.43606379G>A	ExAC,gnomAD
PTPRF	P10586	p.Tyr1210His	rs1460405185	missense variant	-	NC_000001.11:g.43606384T>C	gnomAD
PTPRF	P10586	p.Arg1212Trp	rs201150809	missense variant	-	NC_000001.11:g.43606390C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1212Gln	rs376364770	missense variant	-	NC_000001.11:g.43606391G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser1215Phe	rs753268231	missense variant	-	NC_000001.11:g.43606400C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro1216Leu	rs566920391	missense variant	-	NC_000001.11:g.43606403C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1217His	rs200603784	missense variant	-	NC_000001.11:g.43606405G>C	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Tyr1220His	rs755264682	missense variant	-	NC_000001.11:g.43606414T>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1224Met	rs748351910	missense variant	-	NC_000001.11:g.43606426G>A	ExAC,gnomAD
PTPRF	P10586	p.Ala1226Thr	rs1286475973	missense variant	-	NC_000001.11:g.43606432G>A	gnomAD
PTPRF	P10586	p.Ser1227Pro	rs1466179412	missense variant	-	NC_000001.11:g.43606435T>C	gnomAD
PTPRF	P10586	p.Pro1231Ala	rs1209338659	missense variant	-	NC_000001.11:g.43606447C>G	gnomAD
PTPRF	P10586	p.Pro1231Ser	rs1209338659	missense variant	-	NC_000001.11:g.43606447C>T	gnomAD
PTPRF	P10586	p.Pro1231Leu	rs984033281	missense variant	-	NC_000001.11:g.43606448C>T	TOPMed,gnomAD
PTPRF	P10586	p.Met1232Leu	rs778093838	missense variant	-	NC_000001.11:g.43606450A>T	ExAC,gnomAD
PTPRF	P10586	p.Met1232Thr	rs199504853	missense variant	-	NC_000001.11:g.43606451T>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1233Asn	rs771102511	missense variant	-	NC_000001.11:g.43606453G>A	ExAC,gnomAD
PTPRF	P10586	p.Asp1233Glu	rs774375134	missense variant	-	NC_000001.11:g.43606455C>G	ExAC,gnomAD
PTPRF	P10586	p.Arg1236Cys	rs928942520	missense variant	-	NC_000001.11:g.43606817C>T	TOPMed,gnomAD
PTPRF	P10586	p.Arg1236Leu	rs772686657	missense variant	-	NC_000001.11:g.43606818G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1236His	rs772686657	missense variant	-	NC_000001.11:g.43606818G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1236Ser	rs928942520	missense variant	-	NC_000001.11:g.43606817C>A	TOPMed,gnomAD
PTPRF	P10586	p.Tyr1237His	rs1307184836	missense variant	-	NC_000001.11:g.43606820T>C	TOPMed,gnomAD
PTPRF	P10586	p.Ala1238Thr	rs199960147	missense variant	-	NC_000001.11:g.43606823G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser1239Pro	rs768005889	missense variant	-	NC_000001.11:g.43606826T>C	ExAC,gnomAD
PTPRF	P10586	p.Ser1239Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43606827C>T	NCI-TCGA
PTPRF	P10586	p.Tyr1242Ter	rs753303584	stop gained	-	NC_000001.11:g.43606837C>G	ExAC,gnomAD
PTPRF	P10586	p.Ser1243Leu	rs760891458	missense variant	-	NC_000001.11:g.43606839C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser1243Trp	rs760891458	missense variant	-	NC_000001.11:g.43606839C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1244Glu	rs1306249673	missense variant	-	NC_000001.11:g.43606843T>G	gnomAD
PTPRF	P10586	p.Val1247Gly	COSM3865626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43606851T>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Val1247Leu	rs371253686	missense variant	-	NC_000001.11:g.43606850G>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1247Met	rs371253686	missense variant	-	NC_000001.11:g.43606850G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1248Phe	rs375842660	missense variant	-	NC_000001.11:g.43606853G>T	ESP,ExAC,gnomAD
PTPRF	P10586	p.Val1248Ile	rs375842660	missense variant	-	NC_000001.11:g.43606853G>A	ESP,ExAC,gnomAD
PTPRF	P10586	p.Gln1249Arg	rs779846237	missense variant	-	NC_000001.11:g.43606857A>G	ExAC,gnomAD
PTPRF	P10586	p.Pro1252Ser	rs746966652	missense variant	-	NC_000001.11:g.43606865C>T	ExAC,gnomAD
PTPRF	P10586	p.Pro1252Leu	rs768291568	missense variant	-	NC_000001.11:g.43606866C>T	ExAC
PTPRF	P10586	p.Ala1253Val	rs781060877	missense variant	-	NC_000001.11:g.43606869C>T	ExAC,gnomAD
PTPRF	P10586	p.Gln1254His	rs747982551	missense variant	-	NC_000001.11:g.43606873G>C	ExAC,gnomAD
PTPRF	P10586	p.Gln1255Glu	rs769404453	missense variant	-	NC_000001.11:g.43606874C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1256His	rs1165482795	missense variant	-	NC_000001.11:g.43606879G>C	TOPMed
PTPRF	P10586	p.Glu1257Lys	rs146804143	missense variant	-	NC_000001.11:g.43606880G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro1259Leu	rs145421480	missense variant	-	NC_000001.11:g.43606887C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met1261Ile	rs764318613	missense variant	-	NC_000001.11:g.43606894G>A	ExAC,gnomAD
PTPRF	P10586	p.Thr1265Met	rs777034925	missense variant	-	NC_000001.11:g.43606905C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1266Asp	rs1351632915	missense variant	-	NC_000001.11:g.43606908G>A	gnomAD
PTPRF	P10586	p.Val1268Met	rs201841127	missense variant	-	NC_000001.11:g.43606913G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1276Phe	rs754919062	missense variant	-	NC_000001.11:g.43606937C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1276Ile	rs754919062	missense variant	-	NC_000001.11:g.43606937C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile1277Val	rs747931170	missense variant	-	NC_000001.11:g.43606940A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1280Thr	rs146960105	missense variant	-	NC_000001.11:g.43606949G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1282Ile	rs773936534	missense variant	-	NC_000001.11:g.43606955C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr1289Asn	rs773686451	missense variant	-	NC_000001.11:g.43609391C>A	ExAC,gnomAD
PTPRF	P10586	p.His1290Arg	rs763264668	missense variant	-	NC_000001.11:g.43609394A>G	ExAC,gnomAD
PTPRF	P10586	p.Ser1291Cys	rs1448221458	missense variant	-	NC_000001.11:g.43609397C>G	TOPMed,gnomAD
PTPRF	P10586	p.Ser1291Phe	rs1448221458	missense variant	-	NC_000001.11:g.43609397C>T	TOPMed,gnomAD
PTPRF	P10586	p.Pro1292Ser	COSM4491820	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43609399C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Pro1292Leu	rs763328337	missense variant	-	NC_000001.11:g.43609400C>T	TOPMed
PTPRF	P10586	p.Ser1293Phe	rs1253960522	missense variant	-	NC_000001.11:g.43609403C>T	TOPMed
PTPRF	P10586	p.Ser1294Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43609406C>G	NCI-TCGA
PTPRF	P10586	p.Gly1301Val	rs760628972	missense variant	-	NC_000001.11:g.43609427G>T	ExAC,gnomAD
PTPRF	P10586	p.Gly1301Arg	rs752592428	missense variant	-	NC_000001.11:g.43609426G>A	ExAC,gnomAD
PTPRF	P10586	p.Lys1303Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43609434G>T	NCI-TCGA
PTPRF	P10586	p.Leu1306Phe	rs993036102	missense variant	-	NC_000001.11:g.43609443G>C	TOPMed
PTPRF	P10586	p.Ala1308Val	rs1049953768	missense variant	-	NC_000001.11:g.43609448C>T	TOPMed,gnomAD
PTPRF	P10586	p.Ser1311CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.43609456_43609457insG	NCI-TCGA
PTPRF	P10586	p.Asp1312His	rs764069317	missense variant	-	NC_000001.11:g.43609459G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro1313Ala	rs753601305	missense variant	-	NC_000001.11:g.43609462C>G	ExAC,gnomAD
PTPRF	P10586	p.Arg1317Gly	rs113465093	missense variant	-	NC_000001.11:g.43609474C>G	TOPMed
PTPRF	P10586	p.Arg1317Gln	rs777629923	missense variant	-	NC_000001.11:g.43609475G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg1317Trp	rs113465093	missense variant	-	NC_000001.11:g.43609474C>T	TOPMed
PTPRF	P10586	p.Arg1318Lys	rs1484052835	missense variant	-	NC_000001.11:g.43609478G>A	gnomAD
PTPRF	P10586	p.Arg1318Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43609478G>T	NCI-TCGA
PTPRF	P10586	p.Tyr1321Cys	rs1044521354	missense variant	-	NC_000001.11:g.43609487A>G	TOPMed,gnomAD
PTPRF	P10586	p.Tyr1321Ter	COSM79029	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.43609488C>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Gln1322Glu	rs551264881	missense variant	-	NC_000001.11:g.43609489C>G	TOPMed,gnomAD
PTPRF	P10586	p.Thr1323Asn	rs1411223375	missense variant	-	NC_000001.11:g.43609493C>A	TOPMed
PTPRF	P10586	p.Pro1324GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.43609493C>-	NCI-TCGA
PTPRF	P10586	p.Met1326Ile	rs1237499608	missense variant	-	NC_000001.11:g.43613622G>T	gnomAD
PTPRF	P10586	p.Met1326Thr	rs1189198619	missense variant	-	NC_000001.11:g.43613621T>C	TOPMed,gnomAD
PTPRF	P10586	p.Arg1327Gln	rs1163354852	missense variant	-	NC_000001.11:g.43613624G>A	TOPMed,gnomAD
PTPRF	P10586	p.Arg1327Gly	rs765265238	missense variant	-	NC_000001.11:g.43613623C>G	ExAC,gnomAD
PTPRF	P10586	p.His1329Leu	COSM6126667	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43613630A>T	NCI-TCGA Cosmic
PTPRF	P10586	p.His1329Asn	rs1414794847	missense variant	-	NC_000001.11:g.43613629C>A	TOPMed,gnomAD
PTPRF	P10586	p.Pro1330Leu	rs1458274555	missense variant	-	NC_000001.11:g.43613633C>T	gnomAD
PTPRF	P10586	p.Ile1332Val	rs772848582	missense variant	-	NC_000001.11:g.43613638A>G	ExAC,gnomAD
PTPRF	P10586	p.Pro1333Ser	rs762905507	missense variant	-	NC_000001.11:g.43613641C>T	ExAC,gnomAD
PTPRF	P10586	p.Asp1336Tyr	rs771277235	missense variant	-	NC_000001.11:g.43613650G>T	gnomAD
PTPRF	P10586	p.Asp1336Asn	rs771277235	missense variant	-	NC_000001.11:g.43613650G>A	gnomAD
PTPRF	P10586	p.Leu1337Val	rs751268560	missense variant	-	NC_000001.11:g.43613653C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1338Val	rs371752134	missense variant	-	NC_000001.11:g.43613657C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1339Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43613659G>A	NCI-TCGA
PTPRF	P10586	p.Asn1340Thr	rs754321401	missense variant	-	NC_000001.11:g.43613663A>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn1340Ser	rs754321401	missense variant	-	NC_000001.11:g.43613663A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile1341Val	rs1348295565	missense variant	-	NC_000001.11:g.43613665A>G	gnomAD
PTPRF	P10586	p.Glu1342Lys	rs779515985	missense variant	-	NC_000001.11:g.43613668G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1342Gly	rs746215058	missense variant	-	NC_000001.11:g.43613669A>G	ExAC,gnomAD
PTPRF	P10586	p.Arg1343Leu	rs761487819	missense variant	-	NC_000001.11:g.43613672G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1343Cys	rs369549174	missense variant	-	NC_000001.11:g.43613671C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1343His	rs761487819	missense variant	-	NC_000001.11:g.43613672G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1344Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43613674C>T	NCI-TCGA
PTPRF	P10586	p.Lys1345Arg	rs202114940	missense variant	-	NC_000001.11:g.43613678A>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Asn1347Ser	rs528728508	missense variant	-	NC_000001.11:g.43613684A>G	TOPMed,gnomAD
PTPRF	P10586	p.Asp1348His	rs748296641	missense variant	-	NC_000001.11:g.43613686G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1348Asn	rs748296641	missense variant	-	NC_000001.11:g.43613686G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1349Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43613689G>A	NCI-TCGA
PTPRF	P10586	p.Leu1350Arg	rs1401725517	missense variant	-	NC_000001.11:g.43613693T>G	gnomAD
PTPRF	P10586	p.Lys1351Glu	rs769612296	missense variant	-	NC_000001.11:g.43613695A>G	ExAC,gnomAD
PTPRF	P10586	p.Lys1351Thr	rs1220050094	missense variant	-	NC_000001.11:g.43613696A>C	TOPMed
PTPRF	P10586	p.Glu1355Ala	rs944539538	missense variant	-	NC_000001.11:g.43613708A>C	TOPMed
PTPRF	P10586	p.Glu1355Asp	rs773257469	missense variant	-	NC_000001.11:g.43613709G>T	ExAC,gnomAD
PTPRF	P10586	p.Tyr1356Ser	rs762776569	missense variant	-	NC_000001.11:g.43613711A>C	ExAC,gnomAD
PTPRF	P10586	p.Glu1357Lys	rs1420797332	missense variant	-	NC_000001.11:g.43613713G>A	gnomAD
PTPRF	P10586	p.Ile1359Val	rs763667914	missense variant	-	NC_000001.11:g.43617448A>G	ExAC,gnomAD
PTPRF	P10586	p.Ile1359Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617450C>G	NCI-TCGA
PTPRF	P10586	p.Asp1360Asn	rs763477204	missense variant	-	NC_000001.11:g.43617451G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1363Pro	rs1206641795	missense variant	-	NC_000001.11:g.43617461A>C	TOPMed
PTPRF	P10586	p.Gln1364Leu	rs1339395530	missense variant	-	NC_000001.11:g.43617464A>T	TOPMed
PTPRF	P10586	p.Phe1365Ser	COSM909881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43617467T>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Thr1366Met	rs751913526	missense variant	-	NC_000001.11:g.43617470C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr1366Arg	rs751913526	missense variant	-	NC_000001.11:g.43617470C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1368Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617477G>T	NCI-TCGA
PTPRF	P10586	p.Asn1369Ser	rs1370341354	missense variant	-	NC_000001.11:g.43617479A>G	gnomAD
PTPRF	P10586	p.Ser1370Leu	COSM3490000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43617482C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Ser1370Pro	rs755425568	missense variant	-	NC_000001.11:g.43617481T>C	ExAC
PTPRF	P10586	p.Glu1373Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617490G>A	NCI-TCGA
PTPRF	P10586	p.Glu1373Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617492G>T	NCI-TCGA
PTPRF	P10586	p.Val1374Met	rs1203282758	missense variant	-	NC_000001.11:g.43617493G>A	TOPMed,gnomAD
PTPRF	P10586	p.Val1374Leu	rs1203282758	missense variant	-	NC_000001.11:g.43617493G>T	TOPMed,gnomAD
PTPRF	P10586	p.Arg1380His	rs1165576828	missense variant	-	NC_000001.11:g.43617512G>A	TOPMed,gnomAD
PTPRF	P10586	p.Tyr1381Cys	rs781210446	missense variant	-	NC_000001.11:g.43617515A>G	ExAC,gnomAD
PTPRF	P10586	p.Tyr1381Asp	rs886198606	missense variant	-	NC_000001.11:g.43617514T>G	gnomAD
PTPRF	P10586	p.Ala1382Gly	rs752966262	missense variant	-	NC_000001.11:g.43617518C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1382Val	rs752966262	missense variant	-	NC_000001.11:g.43617518C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1386Ser	rs148741898	missense variant	-	NC_000001.11:g.43617529G>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1386Thr	rs148741898	missense variant	-	NC_000001.11:g.43617529G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.His1389Asp	rs760409112	missense variant	-	NC_000001.11:g.43617538C>G	ExAC,gnomAD
PTPRF	P10586	p.His1389Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617538C>A	NCI-TCGA
PTPRF	P10586	p.His1389Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617538C>T	NCI-TCGA
PTPRF	P10586	p.Arg1391Ter	rs1210951527	stop gained	-	NC_000001.11:g.43617544C>T	gnomAD
PTPRF	P10586	p.Arg1391Gly	rs1210951527	missense variant	-	NC_000001.11:g.43617544C>G	gnomAD
PTPRF	P10586	p.Arg1391Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617545G>C	NCI-TCGA
PTPRF	P10586	p.Val1392Ile	rs768005633	missense variant	-	NC_000001.11:g.43617547G>A	ExAC,gnomAD
PTPRF	P10586	p.Ile1393Thr	rs776101253	missense variant	-	NC_000001.11:g.43617551T>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile1393Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617552C>G	NCI-TCGA
PTPRF	P10586	p.Thr1395Ile	rs761375386	missense variant	-	NC_000001.11:g.43617557C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser1396Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617560C>G	NCI-TCGA
PTPRF	P10586	p.Ile1397Phe	COSM3490002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43617562A>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Asp1398Asn	rs1417036459	missense variant	-	NC_000001.11:g.43617565G>A	gnomAD
PTPRF	P10586	p.Gly1399Asp	rs761012325	missense variant	-	NC_000001.11:g.43617736G>A	ExAC,gnomAD
PTPRF	P10586	p.Gly1399Ser	rs1459855311	missense variant	-	NC_000001.11:g.43617568G>A	TOPMed,gnomAD
PTPRF	P10586	p.Val1400Ile	rs764399239	missense variant	-	NC_000001.11:g.43617738G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1402Arg	rs202116615	missense variant	-	NC_000001.11:g.43617744G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1402Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617745G>A	NCI-TCGA
PTPRF	P10586	p.Asp1404Gly	rs758321458	missense variant	-	NC_000001.11:g.43617751A>G	ExAC,gnomAD
PTPRF	P10586	p.Asp1404Ala	rs758321458	missense variant	-	NC_000001.11:g.43617751A>C	ExAC,gnomAD
PTPRF	P10586	p.Asn1407Ser	rs1249085092	missense variant	-	NC_000001.11:g.43617760A>G	TOPMed
PTPRF	P10586	p.Ala1408Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617763C>T	NCI-TCGA
PTPRF	P10586	p.Asp1412Asn	rs1427091924	missense variant	-	NC_000001.11:g.43617774G>A	gnomAD
PTPRF	P10586	p.Tyr1414Cys	rs754775343	missense variant	-	NC_000001.11:g.43617781A>G	ExAC,gnomAD
PTPRF	P10586	p.Arg1415His	rs370637531	missense variant	-	NC_000001.11:g.43617784G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1415Cys	rs780769007	missense variant	-	NC_000001.11:g.43617783C>T	ExAC,gnomAD
PTPRF	P10586	p.Lys1416Glu	rs1431134339	missense variant	-	NC_000001.11:g.43617786A>G	gnomAD
PTPRF	P10586	p.Lys1416Gln	rs1431134339	missense variant	-	NC_000001.11:g.43617786A>C	gnomAD
PTPRF	P10586	p.Ala1419Thr	rs1337100027	missense variant	-	NC_000001.11:g.43617795G>A	gnomAD
PTPRF	P10586	p.Ile1421Val	rs1328990399	missense variant	-	NC_000001.11:g.43617801A>G	gnomAD
PTPRF	P10586	p.Ala1422Thr	rs1310657329	missense variant	-	NC_000001.11:g.43617804G>A	TOPMed
PTPRF	P10586	p.Thr1423Met	rs748798640	missense variant	-	NC_000001.11:g.43617808C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1424Pro	rs1322347994	missense variant	-	NC_000001.11:g.43617811A>C	TOPMed
PTPRF	P10586	p.Pro1426Leu	COSM3490005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43617817C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Met1431Val	rs1383913294	missense variant	-	NC_000001.11:g.43617831A>G	TOPMed
PTPRF	P10586	p.Asp1433Asn	rs776942329	missense variant	-	NC_000001.11:g.43617837G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1436Ser	rs641351	missense variant	-	NC_000001.11:g.43617848G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1436Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617847G>A	NCI-TCGA
PTPRF	P10586	p.Arg1442His	rs367870850	missense variant	-	NC_000001.11:g.43617865G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg1442Cys	rs1202367134	missense variant	-	NC_000001.11:g.43617864C>T	gnomAD
PTPRF	P10586	p.Thr1443Met	rs1192576595	missense variant	-	NC_000001.11:g.43617868C>T	gnomAD
PTPRF	P10586	p.Ala1444Thr	rs751468520	missense variant	-	NC_000001.11:g.43617870G>A	ExAC,gnomAD
PTPRF	P10586	p.Ala1444Asp	rs1167972950	missense variant	-	NC_000001.11:g.43617871C>A	gnomAD
PTPRF	P10586	p.Thr1445Ser	rs1408645384	missense variant	-	NC_000001.11:g.43617873A>T	TOPMed,gnomAD
PTPRF	P10586	p.Val1446Gly	rs1167542100	missense variant	-	NC_000001.11:g.43617877T>G	gnomAD
PTPRF	P10586	p.Val1447Ala	rs1395607317	missense variant	-	NC_000001.11:g.43617880T>C	TOPMed,gnomAD
PTPRF	P10586	p.Met1448Thr	rs535518899	missense variant	-	NC_000001.11:g.43617883T>C	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Arg1451Trp	rs367752429	missense variant	-	NC_000001.11:g.43617891C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1451Gln	rs549116245	missense variant	-	NC_000001.11:g.43617892G>A	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Glu1453Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43617897G>A	NCI-TCGA
PTPRF	P10586	p.Val1458Ala	rs1257687543	missense variant	-	NC_000001.11:g.43618631T>C	gnomAD
PTPRF	P10586	p.Val1458Ile	rs1212390431	missense variant	-	NC_000001.11:g.43618630G>A	gnomAD
PTPRF	P10586	p.Cys1460Trp	COSM681265	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43618638T>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Gln1462Glu	rs903062795	missense variant	-	NC_000001.11:g.43618642C>G	TOPMed,gnomAD
PTPRF	P10586	p.Arg1467His	rs745409381	missense variant	-	NC_000001.11:g.43618658G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1467Cys	rs778315843	missense variant	-	NC_000001.11:g.43618657C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1468Cys	rs1470736677	missense variant	-	NC_000001.11:g.43618660G>T	gnomAD
PTPRF	P10586	p.Thr1469Ile	rs781778248	missense variant	-	NC_000001.11:g.43618664C>T	ExAC
PTPRF	P10586	p.Thr1469Ala	rs769260975	missense variant	-	NC_000001.11:g.43618663A>G	ExAC,gnomAD
PTPRF	P10586	p.Glu1470Lys	rs1416435157	missense variant	-	NC_000001.11:g.43618666G>A	TOPMed,gnomAD
PTPRF	P10586	p.Glu1470Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43618668G>T	NCI-TCGA
PTPRF	P10586	p.Thr1471Ser	rs1313551565	missense variant	-	NC_000001.11:g.43618670C>G	TOPMed,gnomAD
PTPRF	P10586	p.Gly1473Asp	rs1374926406	missense variant	-	NC_000001.11:g.43618676G>A	gnomAD
PTPRF	P10586	p.Leu1474Phe	COSM3490009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43618678C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Val1477Met	rs1012660995	missense variant	-	NC_000001.11:g.43618687G>A	TOPMed,gnomAD
PTPRF	P10586	p.Thr1478Ile	rs763118237	missense variant	-	NC_000001.11:g.43618691C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1480Ser	rs1022695131	missense variant	-	NC_000001.11:g.43618697T>C	TOPMed
PTPRF	P10586	p.Asp1481His	rs146964251	missense variant	-	NC_000001.11:g.43618699G>C	ESP,ExAC
PTPRF	P10586	p.Val1483Gly	rs775410354	missense variant	-	NC_000001.11:g.43618706T>G	ExAC,gnomAD
PTPRF	P10586	p.Val1483Ala	rs775410354	missense variant	-	NC_000001.11:g.43618706T>C	ExAC,gnomAD
PTPRF	P10586	p.Glu1484Gln	rs1389018689	missense variant	-	NC_000001.11:g.43618708G>C	TOPMed
PTPRF	P10586	p.Leu1485Arg	rs1280346162	missense variant	-	NC_000001.11:g.43618712T>G	gnomAD
PTPRF	P10586	p.Ala1486Ser	rs760404112	missense variant	-	NC_000001.11:g.43618714G>T	ExAC,gnomAD
PTPRF	P10586	p.Thr1487Ala	COSM909884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43618717A>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Tyr1488His	rs371587895	missense variant	-	NC_000001.11:g.43618720T>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr1489Ala	rs756825445	missense variant	-	NC_000001.11:g.43618723A>G	ExAC,gnomAD
PTPRF	P10586	p.Thr1489Ser	rs764987244	missense variant	-	NC_000001.11:g.43618724C>G	ExAC,gnomAD
PTPRF	P10586	p.Arg1491Cys	rs749935647	missense variant	-	NC_000001.11:g.43618729C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1491His	rs375234489	missense variant	-	NC_000001.11:g.43618730G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1494Thr	rs202030226	missense variant	-	NC_000001.11:g.43618738G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1495Phe	rs1398514141	missense variant	-	NC_000001.11:g.43618741C>T	gnomAD
PTPRF	P10586	p.Leu1495Val	rs1398514141	missense variant	-	NC_000001.11:g.43618741C>G	gnomAD
PTPRF	P10586	p.His1496Tyr	rs1391964552	missense variant	-	NC_000001.11:g.43618744C>T	gnomAD
PTPRF	P10586	p.Ser1498Arg	rs1165369421	missense variant	-	NC_000001.11:g.43619048A>C	gnomAD
PTPRF	P10586	p.Ser1498Thr	rs142031392	missense variant	-	NC_000001.11:g.43619049G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1499Ala	rs1290285355	missense variant	-	NC_000001.11:g.43619052G>C	TOPMed,gnomAD
PTPRF	P10586	p.Ser1501Arg	rs776693106	missense variant	-	NC_000001.11:g.43619057A>C	ExAC
PTPRF	P10586	p.Ser1501Thr	rs1381131887	missense variant	-	NC_000001.11:g.43619058G>C	gnomAD
PTPRF	P10586	p.Arg1504His	rs769736949	missense variant	-	NC_000001.11:g.43619067G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1504Cys	rs761445525	missense variant	-	NC_000001.11:g.43619066C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1505Lys	rs190997680	missense variant	-	NC_000001.11:g.43619069G>A	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Leu1506Val	rs17849118	missense variant	-	NC_000001.11:g.43619072C>G	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1507Cys	rs1218164234	missense variant	-	NC_000001.11:g.43619075C>T	TOPMed,gnomAD
PTPRF	P10586	p.Arg1507His	rs1028882041	missense variant	-	NC_000001.11:g.43619076G>A	TOPMed,gnomAD
PTPRF	P10586	p.Phe1511Cys	rs1176281524	missense variant	-	NC_000001.11:g.43619088T>G	TOPMed
PTPRF	P10586	p.Phe1511Leu	rs759154108	missense variant	-	NC_000001.11:g.43619087T>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1516Gly	rs1476106910	missense variant	-	NC_000001.11:g.43619103A>G	gnomAD
PTPRF	P10586	p.His1517Arg	rs1032025108	missense variant	-	NC_000001.11:g.43619106A>G	TOPMed
PTPRF	P10586	p.Gly1518Glu	rs113456929	missense variant	-	NC_000001.11:g.43619109G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro1520Ala	rs917133176	missense variant	-	NC_000001.11:g.43619114C>G	TOPMed
PTPRF	P10586	p.Pro1525Ser	COSM3490011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43619129C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Pro1525Leu	rs750825052	missense variant	-	NC_000001.11:g.43619130C>T	ExAC,gnomAD
PTPRF	P10586	p.Ala1528Val	rs758595390	missense variant	-	NC_000001.11:g.43619139C>T	ExAC,gnomAD
PTPRF	P10586	p.Ala1528Asp	rs758595390	missense variant	-	NC_000001.11:g.43619139C>A	ExAC,gnomAD
PTPRF	P10586	p.Arg1531Gln	rs70937045	missense variant	-	NC_000001.11:g.43619148G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1531Leu	rs70937045	missense variant	-	NC_000001.11:g.43619148G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1532Trp	rs748151594	missense variant	-	NC_000001.11:g.43619150C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1532Gln	rs755881493	missense variant	-	NC_000001.11:g.43619151G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys1534Glu	rs773121796	missense variant	-	NC_000001.11:g.43619156A>G	ExAC,gnomAD
PTPRF	P10586	p.Ala1535Thr	rs762901411	missense variant	-	NC_000001.11:g.43619159G>A	ExAC,gnomAD
PTPRF	P10586	p.Ala1535Pro	rs762901411	missense variant	-	NC_000001.11:g.43619159G>C	ExAC,gnomAD
PTPRF	P10586	p.Cys1536Tyr	rs1237155038	missense variant	-	NC_000001.11:g.43619163G>A	gnomAD
PTPRF	P10586	p.Asn1537Lys	rs774058164	missense variant	-	NC_000001.11:g.43619167C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn1537Thr	rs770704706	missense variant	-	NC_000001.11:g.43619166A>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn1537Lys	rs774058164	missense variant	-	NC_000001.11:g.43619167C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn1537Ser	rs770704706	missense variant	-	NC_000001.11:g.43619166A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1539Val	rs758914545	missense variant	-	NC_000001.11:g.43619171C>G	ExAC,gnomAD
PTPRF	P10586	p.Ala1541Thr	rs754258723	missense variant	-	NC_000001.11:g.43619177G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1542Arg	rs1418092772	missense variant	-	NC_000001.11:g.43619180G>A	gnomAD
PTPRF	P10586	p.Gly1542Trp	COSM681264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43619180G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Met1544Leu	rs1454942387	missense variant	-	NC_000001.11:g.43619186A>T	TOPMed
PTPRF	P10586	p.Met1544Thr	rs563305665	missense variant	-	NC_000001.11:g.43619187T>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1545Met	rs1434767385	missense variant	-	NC_000001.11:g.43619189G>A	gnomAD
PTPRF	P10586	p.Val1546Leu	rs1172532472	missense variant	-	NC_000001.11:g.43619192G>C	gnomAD
PTPRF	P10586	p.Cys1548Ter	rs868712206	stop gained	-	NC_000001.11:g.43619200C>A	gnomAD
PTPRF	P10586	p.Ser1549Arg	rs767692370	missense variant	-	NC_000001.11:g.43619288C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1550Glu	rs756268896	missense variant	-	NC_000001.11:g.43619290C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1550Thr	rs752821972	missense variant	-	NC_000001.11:g.43619289G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1550Val	rs756268896	missense variant	-	NC_000001.11:g.43619290C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1552Met	rs370996086	missense variant	-	NC_000001.11:g.43619295G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1552Ala	rs917715521	missense variant	-	NC_000001.11:g.43619296T>C	TOPMed
PTPRF	P10586	p.Arg1554His	rs778737593	missense variant	-	NC_000001.11:g.43619302G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1554Cys	rs756962072	missense variant	-	NC_000001.11:g.43619301C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1556Ser	rs745698006	missense variant	-	NC_000001.11:g.43619307G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile1559Val	rs548137409	missense variant	-	NC_000001.11:g.43619316A>G	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile1559Ser	rs1216731645	missense variant	-	NC_000001.11:g.43619317T>G	gnomAD
PTPRF	P10586	p.Val1560Met	rs545781120	missense variant	-	NC_000001.11:g.43619319G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met1564Val	rs763422012	missense variant	-	NC_000001.11:g.43619331A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met1564Thr	rs766848150	missense variant	-	NC_000001.11:g.43619332T>C	ExAC,gnomAD
PTPRF	P10586	p.Arg1567Gln	rs139472475	missense variant	-	NC_000001.11:g.43619341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1567Trp	rs1273214223	missense variant	-	NC_000001.11:g.43619340C>T	TOPMed
PTPRF	P10586	p.Met1568Ile	COSM3490015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43619345G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Met1568Val	rs759888484	missense variant	-	NC_000001.11:g.43619343A>G	ExAC,gnomAD
PTPRF	P10586	p.Lys1569Asn	rs767714096	missense variant	-	NC_000001.11:g.43619348G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys1572Glu	rs1430627272	missense variant	-	NC_000001.11:g.43619355A>G	TOPMed
PTPRF	P10586	p.Thr1573Met	rs752983554	missense variant	-	NC_000001.11:g.43619359C>T	ExAC,gnomAD
PTPRF	P10586	p.Asp1575Asn	rs374607021	missense variant	-	NC_000001.11:g.43619364G>A	ESP,ExAC,gnomAD
PTPRF	P10586	p.Asp1575Glu	rs1317650582	missense variant	-	NC_000001.11:g.43619366C>A	TOPMed,gnomAD
PTPRF	P10586	p.Tyr1577Cys	rs754009897	missense variant	-	NC_000001.11:g.43619371A>G	ExAC,gnomAD
PTPRF	P10586	p.Gly1578Ser	rs1398022225	missense variant	-	NC_000001.11:g.43619373G>A	gnomAD
PTPRF	P10586	p.Gly1578Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43619374G>A	NCI-TCGA
PTPRF	P10586	p.Val1580Ala	rs778771796	missense variant	-	NC_000001.11:g.43619380T>C	ExAC,gnomAD
PTPRF	P10586	p.Thr1581Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43619382A>G	NCI-TCGA
PTPRF	P10586	p.Met1583Val	rs745670160	missense variant	-	NC_000001.11:g.43619388A>G	ExAC,gnomAD
PTPRF	P10586	p.Met1583Thr	rs758129076	missense variant	-	NC_000001.11:g.43619389T>C	ExAC,gnomAD
PTPRF	P10586	p.Met1583Ile	rs779621604	missense variant	-	NC_000001.11:g.43619390G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg1584Ter	rs746682490	stop gained	-	NC_000001.11:g.43619391C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1584Gln	rs1302070237	missense variant	-	NC_000001.11:g.43619392G>A	gnomAD
PTPRF	P10586	p.Ser1585Leu	rs768112017	missense variant	-	NC_000001.11:g.43619395C>T	ExAC,gnomAD
PTPRF	P10586	p.Met1590Val	rs747718453	missense variant	-	NC_000001.11:g.43619409A>G	ExAC,gnomAD
PTPRF	P10586	p.Met1590Ile	rs1185864439	missense variant	-	NC_000001.11:g.43619411G>A	gnomAD
PTPRF	P10586	p.Thr1593Met	rs377575574	missense variant	-	NC_000001.11:g.43619419C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1595Asn	rs1158238606	missense variant	-	NC_000001.11:g.43619424G>A	gnomAD
PTPRF	P10586	p.Val1598Met	rs772345080	missense variant	-	NC_000001.11:g.43619433G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ile1600Thr	rs1239648530	missense variant	-	NC_000001.11:g.43619440T>C	gnomAD
PTPRF	P10586	p.Ile1600Leu	rs1395449668	missense variant	-	NC_000001.11:g.43619439A>C	gnomAD
PTPRF	P10586	p.His1601Arg	rs371076941	missense variant	-	NC_000001.11:g.43619443A>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1602Ala	rs760947139	missense variant	-	NC_000001.11:g.43619446A>C	ExAC,gnomAD
PTPRF	P10586	p.Ala1603Ser	rs558223872	missense variant	-	NC_000001.11:g.43619448G>T	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Ala1603Val	rs373838949	missense variant	-	NC_000001.11:g.43619449C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr1609Met	rs145211050	missense variant	-	NC_000001.11:g.43619467C>T	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Thr1609Ala	rs1344845933	missense variant	-	NC_000001.11:g.43619466A>G	gnomAD
PTPRF	P10586	p.Cys1610Tyr	rs780893841	missense variant	-	NC_000001.11:g.43619470G>A	ExAC
PTPRF	P10586	p.Gly1611Asp	rs779426523	missense variant	-	NC_000001.11:g.43619473G>A	ExAC,gnomAD
PTPRF	P10586	p.Gly1611Ser	rs200975835	missense variant	-	NC_000001.11:g.43619472G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1614Gln	rs772747132	missense variant	-	NC_000001.11:g.43619481G>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1617Val	rs775973893	missense variant	-	NC_000001.11:g.43619491C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1618His	rs761178241	missense variant	-	NC_000001.11:g.43619494G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1618Cys	rs557123403	missense variant	-	NC_000001.11:g.43619493C>T	1000Genomes,TOPMed,gnomAD
PTPRF	P10586	p.Asn1619Tyr	rs202169828	missense variant	-	NC_000001.11:g.43619496A>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn1619Ser	rs1330495069	missense variant	-	NC_000001.11:g.43619497A>G	TOPMed,gnomAD
PTPRF	P10586	p.Tyr1621Cys	rs1163327417	missense variant	-	NC_000001.11:g.43619503A>G	TOPMed,gnomAD
PTPRF	P10586	p.Tyr1621Ser	rs1163327417	missense variant	-	NC_000001.11:g.43619503A>C	TOPMed,gnomAD
PTPRF	P10586	p.Tyr1621His	rs142117073	missense variant	-	NC_000001.11:g.43619502T>C	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1622Thr	rs1303429374	missense variant	-	NC_000001.11:g.43619505G>A	gnomAD
PTPRF	P10586	p.His1623Tyr	rs750332454	missense variant	-	NC_000001.11:g.43619508C>T	ExAC,gnomAD
PTPRF	P10586	p.Gln1625Arg	rs762765550	missense variant	-	NC_000001.11:g.43619515A>G	ExAC,gnomAD
PTPRF	P10586	p.Gly1628Ser	rs150085995	missense variant	-	NC_000001.11:g.43619523G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1629His	rs1256630824	missense variant	-	NC_000001.11:g.43619528A>T	gnomAD
PTPRF	P10586	p.Val1630Ala	rs1214567224	missense variant	-	NC_000001.11:g.43619530T>C	gnomAD
PTPRF	P10586	p.Val1630Met	rs754777001	missense variant	-	NC_000001.11:g.43619529G>A	ExAC,gnomAD
PTPRF	P10586	p.Pro1631Ser	rs752315680	missense variant	-	NC_000001.11:g.43619532C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gly1633Glu	rs777117732	missense variant	-	NC_000001.11:g.43619539G>A	ExAC,gnomAD
PTPRF	P10586	p.Glu1634Lys	rs748877164	missense variant	-	NC_000001.11:g.43619541G>A	ExAC,gnomAD
PTPRF	P10586	p.Ser1635Arg	rs758958686	missense variant	-	NC_000001.11:g.43619546T>A	ExAC,gnomAD
PTPRF	P10586	p.Val1636Ala	rs565355095	missense variant	-	NC_000001.11:g.43619548T>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1636Met	rs1397867455	missense variant	-	NC_000001.11:g.43619547G>A	TOPMed,gnomAD
PTPRF	P10586	p.Thr1637Ser	rs1389621772	missense variant	-	NC_000001.11:g.43619551C>G	gnomAD
PTPRF	P10586	p.Ala1638Ser	rs541451200	missense variant	-	NC_000001.11:g.43619553G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1638Thr	rs541451200	missense variant	-	NC_000001.11:g.43619553G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1638Val	rs1327523720	missense variant	-	NC_000001.11:g.43619554C>T	gnomAD
PTPRF	P10586	p.Leu1641Phe	COSM3490017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43619562C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Glu1642Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43619565G>A	NCI-TCGA
PTPRF	P10586	p.Ser1648Asn	rs759439345	missense variant	-	NC_000001.11:g.43619690G>A	ExAC,gnomAD
PTPRF	P10586	p.Lys1650Arg	rs767540594	missense variant	-	NC_000001.11:g.43619696A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1651Val	rs532554718	missense variant	-	NC_000001.11:g.43619699C>T	1000Genomes
PTPRF	P10586	p.Ala1651Thr	rs775132901	missense variant	-	NC_000001.11:g.43619698G>A	ExAC,gnomAD
PTPRF	P10586	p.Ala1651Ser	rs775132901	missense variant	-	NC_000001.11:g.43619698G>T	ExAC,gnomAD
PTPRF	P10586	p.His1652Gln	rs1377458062	missense variant	-	NC_000001.11:g.43619703C>G	TOPMed,gnomAD
PTPRF	P10586	p.Thr1653Arg	rs763586039	missense variant	-	NC_000001.11:g.43619705C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr1653Met	rs763586039	missense variant	-	NC_000001.11:g.43619705C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1655His	rs755516127	missense variant	-	NC_000001.11:g.43619711G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1655Cys	rs749990734	missense variant	-	NC_000001.11:g.43619710C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1655Gly	rs749990734	missense variant	-	NC_000001.11:g.43619710C>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Phe1656Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43619713T>C	NCI-TCGA
PTPRF	P10586	p.Ser1658Thr	rs1349886664	missense variant	-	NC_000001.11:g.43619720G>C	gnomAD
PTPRF	P10586	p.Ala1659Thr	rs1016222559	missense variant	-	NC_000001.11:g.43619722G>A	gnomAD
PTPRF	P10586	p.Asn1660Ile	rs777812290	missense variant	-	NC_000001.11:g.43619726A>T	ExAC,gnomAD
PTPRF	P10586	p.Asn1660Ser	rs777812290	missense variant	-	NC_000001.11:g.43619726A>G	ExAC,gnomAD
PTPRF	P10586	p.Pro1662Ser	rs565463212	missense variant	-	NC_000001.11:g.43619731C>T	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Pro1662Ala	rs565463212	missense variant	-	NC_000001.11:g.43619731C>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Cys1663Tyr	rs771183252	missense variant	-	NC_000001.11:g.43619735G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys1665Thr	rs1438768947	missense variant	-	NC_000001.11:g.43619741A>C	gnomAD
PTPRF	P10586	p.Asn1668Ser	rs534381986	missense variant	-	NC_000001.11:g.43619750A>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Arg1669Gln	rs746007326	missense variant	-	NC_000001.11:g.43619753G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg1669Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43619752C>T	NCI-TCGA
PTPRF	P10586	p.Val1671Glu	rs771897426	missense variant	-	NC_000001.11:g.43619759T>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1671Gly	rs771897426	missense variant	-	NC_000001.11:g.43619759T>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn1672Asp	rs775500719	missense variant	-	NC_000001.11:g.43619761A>G	ExAC,gnomAD
PTPRF	P10586	p.Glu1677Lys	rs1463828635	missense variant	-	NC_000001.11:g.43619776G>A	gnomAD
PTPRF	P10586	p.Arg1680His	rs1444849774	missense variant	-	NC_000001.11:g.43619786G>A	TOPMed,gnomAD
PTPRF	P10586	p.Arg1687His	rs1387514159	missense variant	-	NC_000001.11:g.43619807G>A	TOPMed
PTPRF	P10586	p.Arg1687Cys	rs776380044	missense variant	-	NC_000001.11:g.43619806C>T	ExAC,gnomAD
PTPRF	P10586	p.Val1689Met	rs1219699868	missense variant	-	NC_000001.11:g.43619812G>A	gnomAD
PTPRF	P10586	p.Ser1692Thr	rs1188744998	missense variant	-	NC_000001.11:g.43619821T>A	TOPMed
PTPRF	P10586	p.Tyr1694Cys	rs1258470133	missense variant	-	NC_000001.11:g.43619828A>G	gnomAD
PTPRF	P10586	p.Ser1698Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43619840G>C	NCI-TCGA
PTPRF	P10586	p.Gly1702Asp	rs771181177	missense variant	-	NC_000001.11:g.43619852G>A	gnomAD
PTPRF	P10586	p.Gly1702Ala	rs771181177	missense variant	-	NC_000001.11:g.43619852G>C	gnomAD
PTPRF	P10586	p.Gly1702Ser	rs139706869	missense variant	-	NC_000001.11:g.43619851G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1706Arg	rs1287074551	missense variant	-	NC_000001.11:g.43620100A>G	gnomAD
PTPRF	P10586	p.Ala1708Val	rs1205474230	missense variant	-	NC_000001.11:g.43620106C>T	TOPMed
PTPRF	P10586	p.Tyr1709Cys	rs751071796	missense variant	-	NC_000001.11:g.43620109A>G	ExAC,gnomAD
PTPRF	P10586	p.Ile1710Leu	rs764644238	missense variant	-	NC_000001.11:g.43620111A>C	ExAC,gnomAD
PTPRF	P10586	p.Ala1717Thr	rs1410487785	missense variant	-	NC_000001.11:g.43620132G>A	gnomAD
PTPRF	P10586	p.Glu1721Gln	COSM72350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620144G>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Glu1721Lys	rs780147204	missense variant	-	NC_000001.11:g.43620144G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1722Gly	rs1376549439	missense variant	-	NC_000001.11:g.43620148A>G	TOPMed
PTPRF	P10586	p.Trp1724Arg	rs1338025567	missense variant	-	NC_000001.11:g.43620153T>C	TOPMed
PTPRF	P10586	p.Arg1725Leu	COSM681263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620157G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Arg1725His	rs754926878	missense variant	-	NC_000001.11:g.43620157G>A	ExAC,gnomAD
PTPRF	P10586	p.Arg1725Cys	rs747103988	missense variant	-	NC_000001.11:g.43620156C>T	ExAC,gnomAD
PTPRF	P10586	p.Met1726Ile	rs781342226	missense variant	-	NC_000001.11:g.43620161G>A	ExAC,gnomAD
PTPRF	P10586	p.Trp1728Arg	rs769736790	missense variant	-	NC_000001.11:g.43620165T>C	ExAC,gnomAD
PTPRF	P10586	p.Glu1729Gln	rs1471237893	missense variant	-	NC_000001.11:g.43620168G>C	TOPMed
PTPRF	P10586	p.His1730Arg	rs772962387	missense variant	-	NC_000001.11:g.43620172A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.His1730Gln	rs145235828	missense variant	-	NC_000001.11:g.43620173C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asn1731Ser	rs142050471	missense variant	-	NC_000001.11:g.43620175A>G	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr1733Ile	COSM3490021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620181C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Ile1734Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43620184T>C	NCI-TCGA
PTPRF	P10586	p.Ile1735Val	rs773899805	missense variant	-	NC_000001.11:g.43620186A>G	ExAC,gnomAD
PTPRF	P10586	p.Ile1735Thr	rs1240227296	missense variant	-	NC_000001.11:g.43620187T>C	gnomAD
PTPRF	P10586	p.Val1736Ile	rs759036059	missense variant	-	NC_000001.11:g.43620189G>A	ExAC,gnomAD
PTPRF	P10586	p.Leu1738Val	COSM464662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620195C>G	NCI-TCGA Cosmic
PTPRF	P10586	p.Thr1739Ala	rs764519639	missense variant	-	NC_000001.11:g.43620198A>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Lys1740Arg	rs1185928664	missense variant	-	NC_000001.11:g.43620202A>G	gnomAD
PTPRF	P10586	p.Lys1740Glu	rs1442172384	missense variant	-	NC_000001.11:g.43620201A>G	gnomAD
PTPRF	P10586	p.Arg1742Trp	rs765620781	missense variant	-	NC_000001.11:g.43620207C>T	ExAC,TOPMed
PTPRF	P10586	p.Arg1742Gln	rs750789308	missense variant	-	NC_000001.11:g.43620208G>A	ExAC,gnomAD
PTPRF	P10586	p.Met1744Ile	rs1178019713	missense variant	-	NC_000001.11:g.43620215G>A	gnomAD
PTPRF	P10586	p.Gly1745Ala	rs1440607876	missense variant	-	NC_000001.11:g.43620217G>C	TOPMed
PTPRF	P10586	p.Arg1746Lys	COSM3490023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620220G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.His1750Gln	rs1450905649	missense variant	-	NC_000001.11:g.43620465C>A	TOPMed,gnomAD
PTPRF	P10586	p.Ala1755Thr	rs1265297751	missense variant	-	NC_000001.11:g.43620478G>A	gnomAD
PTPRF	P10586	p.Ala1755Glu	rs1478012102	missense variant	-	NC_000001.11:g.43620479C>A	gnomAD
PTPRF	P10586	p.Arg1757Cys	rs757017636	missense variant	-	NC_000001.11:g.43620484C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1757His	rs372799990	missense variant	-	NC_000001.11:g.43620485G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1757Gly	rs757017636	missense variant	-	NC_000001.11:g.43620484C>G	ExAC,gnomAD
PTPRF	P10586	p.Ser1758Pro	rs745550474	missense variant	-	NC_000001.11:g.43620487T>C	ExAC,gnomAD
PTPRF	P10586	p.Ser1758Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43620488C>G	NCI-TCGA
PTPRF	P10586	p.Ala1759Val	rs771751666	missense variant	-	NC_000001.11:g.43620491C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1760Leu	rs779513130	missense variant	-	NC_000001.11:g.43620494G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1760His	rs779513130	missense variant	-	NC_000001.11:g.43620494G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1760Cys	rs1385558867	missense variant	-	NC_000001.11:g.43620493C>T	gnomAD
PTPRF	P10586	p.Tyr1763Phe	rs1223441079	missense variant	-	NC_000001.11:g.43620503A>T	TOPMed,gnomAD
PTPRF	P10586	p.Val1765Ile	rs1276775648	missense variant	-	NC_000001.11:g.43620508G>A	gnomAD
PTPRF	P10586	p.Val1766Ala	rs1323663408	missense variant	-	NC_000001.11:g.43620512T>C	gnomAD
PTPRF	P10586	p.Asp1767Ala	rs770277923	missense variant	-	NC_000001.11:g.43620515A>C	ExAC,gnomAD
PTPRF	P10586	p.Asp1767His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43620514G>C	NCI-TCGA
PTPRF	P10586	p.Pro1768Leu	rs773594682	missense variant	-	NC_000001.11:g.43620518C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ala1770Val	rs1430783133	missense variant	-	NC_000001.11:g.43620524C>T	TOPMed
PTPRF	P10586	p.Ala1770Thr	rs763330721	missense variant	-	NC_000001.11:g.43620523G>A	ExAC,gnomAD
PTPRF	P10586	p.Glu1771Gln	COSM4823522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620526G>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Tyr1772Phe	rs759814948	missense variant	-	NC_000001.11:g.43620530A>T	ExAC,gnomAD
PTPRF	P10586	p.Asn1773Ser	rs767910194	missense variant	-	NC_000001.11:g.43620533A>G	ExAC,gnomAD
PTPRF	P10586	p.Met1774Val	rs201747944	missense variant	-	NC_000001.11:g.43620535A>G	TOPMed,gnomAD
PTPRF	P10586	p.Pro1775Ser	rs752820297	missense variant	-	NC_000001.11:g.43620538C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro1775Thr	rs752820297	missense variant	-	NC_000001.11:g.43620538C>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Pro1775Leu	rs913340844	missense variant	-	NC_000001.11:g.43620539C>T	gnomAD
PTPRF	P10586	p.Arg1780His	rs151136180	missense variant	-	NC_000001.11:g.43620554G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1780Leu	rs151136180	missense variant	-	NC_000001.11:g.43620554G>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Glu1781Gly	rs200155899	missense variant	-	NC_000001.11:g.43620557A>G	1000Genomes
PTPRF	P10586	p.Lys1783Arg	rs201633718	missense variant	-	NC_000001.11:g.43620563A>G	1000Genomes
PTPRF	P10586	p.Thr1785Met	rs1419632455	missense variant	-	NC_000001.11:g.43620569C>T	gnomAD
PTPRF	P10586	p.Thr1785Ala	rs201039893	missense variant	-	NC_000001.11:g.43620568A>G	1000Genomes,gnomAD
PTPRF	P10586	p.Ala1787Ser	COSM1296475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620574G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Ala1787Val	COSM4008287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620575C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Ala1787Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43620574G>A	NCI-TCGA
PTPRF	P10586	p.Arg1788Gln	COSM909891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620578G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Arg1788Trp	rs746786262	missense variant	-	NC_000001.11:g.43620577C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Asp1789Asn	COSM3490025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620838G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Asp1789Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43620839A>G	NCI-TCGA
PTPRF	P10586	p.Gly1790Glu	COSM3790055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620842G>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Gly1790Arg	COSM3805343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43620841G>C	NCI-TCGA Cosmic
PTPRF	P10586	p.Gly1790Arg	rs953278964	missense variant	-	NC_000001.11:g.43620841G>A	TOPMed
PTPRF	P10586	p.Gln1791Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43620844C>G	NCI-TCGA
PTPRF	P10586	p.Gln1791His	rs1427661601	missense variant	-	NC_000001.11:g.43620846G>C	gnomAD
PTPRF	P10586	p.Arg1796Trp	rs747165352	missense variant	-	NC_000001.11:g.43620859C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1796Leu	rs768967831	missense variant	-	NC_000001.11:g.43620860G>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1796Gln	rs768967831	missense variant	-	NC_000001.11:g.43620860G>A	ExAC,gnomAD
PTPRF	P10586	p.Gly1807Val	rs1369562264	missense variant	-	NC_000001.11:g.43620893G>T	gnomAD
PTPRF	P10586	p.Val1808Met	rs762685023	missense variant	-	NC_000001.11:g.43620895G>A	ExAC,gnomAD
PTPRF	P10586	p.Pro1809Leu	rs1220283248	missense variant	-	NC_000001.11:g.43620899C>T	TOPMed,gnomAD
PTPRF	P10586	p.Thr1811Ile	rs1370427192	missense variant	-	NC_000001.11:g.43620905C>T	TOPMed,gnomAD
PTPRF	P10586	p.Gly1812Asp	rs1201742137	missense variant	-	NC_000001.11:g.43620908G>A	gnomAD
PTPRF	P10586	p.Glu1813Asp	rs1220801019	missense variant	-	NC_000001.11:g.43620912G>C	TOPMed
PTPRF	P10586	p.Gly1814Glu	rs1309029917	missense variant	-	NC_000001.11:g.43620914G>A	gnomAD
PTPRF	P10586	p.Ile1816Val	rs1308023685	missense variant	-	NC_000001.11:g.43620919A>G	TOPMed
PTPRF	P10586	p.Ile1819Thr	rs1191150782	missense variant	-	NC_000001.11:g.43620929T>C	gnomAD
PTPRF	P10586	p.Gly1820Trp	rs752086534	missense variant	-	NC_000001.11:g.43620931G>T	ExAC,gnomAD
PTPRF	P10586	p.Gln1821Leu	rs1171906145	missense variant	-	NC_000001.11:g.43620935A>T	gnomAD
PTPRF	P10586	p.Lys1824Asn	rs972813693	missense variant	-	NC_000001.11:g.43620945G>T	-
PTPRF	P10586	p.Lys1824Glu	rs1216259641	missense variant	-	NC_000001.11:g.43620943A>G	TOPMed
PTPRF	P10586	p.Gln1831His	rs1408438550	missense variant	-	NC_000001.11:g.43620966G>T	gnomAD
PTPRF	P10586	p.Gly1833Glu	rs1339202074	missense variant	-	NC_000001.11:g.43620971G>A	TOPMed
PTPRF	P10586	p.Pro1834Ser	rs755667245	missense variant	-	NC_000001.11:g.43620973C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Thr1836Ser	rs1292169218	missense variant	-	NC_000001.11:g.43620979A>T	TOPMed
PTPRF	P10586	p.Thr1836Lys	rs746411435	missense variant	-	NC_000001.11:g.43620980C>A	ExAC,gnomAD
PTPRF	P10586	p.Thr1836Met	rs746411435	missense variant	-	NC_000001.11:g.43620980C>T	ExAC,gnomAD
PTPRF	P10586	p.Val1843Met	rs1212745213	missense variant	-	NC_000001.11:g.43621104G>A	gnomAD
PTPRF	P10586	p.Arg1845Cys	rs1234724539	missense variant	-	NC_000001.11:g.43621110C>T	TOPMed
PTPRF	P10586	p.Gly1847Arg	rs755382808	missense variant	-	NC_000001.11:g.43621116G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Val1848Ala	rs202216723	missense variant	-	NC_000001.11:g.43621120T>C	1000Genomes,TOPMed
PTPRF	P10586	p.Val1848Leu	rs1386581708	missense variant	-	NC_000001.11:g.43621119G>T	TOPMed
PTPRF	P10586	p.Ile1850Leu	rs1010214181	missense variant	-	NC_000001.11:g.43621125A>C	TOPMed
PTPRF	P10586	p.Ile1850Val	rs1010214181	missense variant	-	NC_000001.11:g.43621125A>G	TOPMed
PTPRF	P10586	p.Ile1850Thr	rs748431718	missense variant	-	NC_000001.11:g.43621126T>C	ExAC,gnomAD
PTPRF	P10586	p.Thr1851Ser	rs1441420459	missense variant	-	NC_000001.11:g.43621129C>G	TOPMed,gnomAD
PTPRF	P10586	p.Ile1854Thr	rs1384223816	missense variant	-	NC_000001.11:g.43621138T>C	gnomAD
PTPRF	P10586	p.Ile1854Val	rs770052959	missense variant	-	NC_000001.11:g.43621137A>G	ExAC,gnomAD
PTPRF	P10586	p.Val1855Ile	rs150260807	missense variant	-	NC_000001.11:g.43621140G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1858Cys	rs774364089	missense variant	-	NC_000001.11:g.43621149C>T	ExAC,gnomAD
PTPRF	P10586	p.Arg1858His	rs1175556576	missense variant	-	NC_000001.11:g.43621150G>A	TOPMed
PTPRF	P10586	p.Met1859Val	rs1378513685	missense variant	-	NC_000001.11:g.43621152A>G	gnomAD
PTPRF	P10586	p.Met1859Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43621153T>A	NCI-TCGA
PTPRF	P10586	p.Met1859Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.43621151_43621152insTAGCTACTCAGGAGGAGGCTGAGGT	NCI-TCGA
PTPRF	P10586	p.Arg1860Leu	COSM6126665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43621156G>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Arg1860His	rs373895014	missense variant	-	NC_000001.11:g.43621156G>A	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Tyr1861Asp	rs771936458	missense variant	-	NC_000001.11:g.43621158T>G	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Tyr1861Ter	rs1143702	stop gained	-	NC_000001.11:g.43621160C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Tyr1861Cys	rs1349236746	missense variant	-	NC_000001.11:g.43621159A>G	TOPMed,gnomAD
PTPRF	P10586	p.Tyr1861His	rs771936458	missense variant	-	NC_000001.11:g.43621158T>C	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Tyr1861Phe	rs1349236746	missense variant	-	NC_000001.11:g.43621159A>T	TOPMed,gnomAD
PTPRF	P10586	p.Val1864Met	rs763894460	missense variant	-	NC_000001.11:g.43621167G>A	ExAC,gnomAD
PTPRF	P10586	p.Asp1866Asn	rs761408146	missense variant	-	NC_000001.11:g.43621173G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met1867Leu	rs1351651395	missense variant	-	NC_000001.11:g.43621176A>T	TOPMed,gnomAD
PTPRF	P10586	p.Met1867Ile	rs766934711	missense variant	-	NC_000001.11:g.43621178G>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Met1867Val	rs1351651395	missense variant	-	NC_000001.11:g.43621176A>G	TOPMed,gnomAD
PTPRF	P10586	p.Met1867Lys	COSM4008291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43621177T>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Met1867Ile	rs766934711	missense variant	-	NC_000001.11:g.43621178G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1869Pro	rs752128149	missense variant	-	NC_000001.11:g.43621183A>C	ExAC,gnomAD
PTPRF	P10586	p.Val1871Met	rs781600148	missense variant	-	NC_000001.11:g.43621188G>A	ExAC,gnomAD
PTPRF	P10586	p.Leu1874Arg	rs753061964	missense variant	-	NC_000001.11:g.43621198T>G	ExAC,gnomAD
PTPRF	P10586	p.Leu1874Val	rs990623648	missense variant	-	NC_000001.11:g.43621197C>G	gnomAD
PTPRF	P10586	p.Arg1875His	rs756325478	missense variant	-	NC_000001.11:g.43621201G>A	ExAC,gnomAD
PTPRF	P10586	p.Thr1876Ile	rs368302488	missense variant	-	NC_000001.11:g.43621204C>T	ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Gln1877His	rs1446869120	missense variant	-	NC_000001.11:g.43621208G>C	gnomAD
PTPRF	P10586	p.Arg1878Cys	COSM909892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43621209C>T	NCI-TCGA Cosmic
PTPRF	P10586	p.Arg1878His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.43621210G>A	NCI-TCGA
PTPRF	P10586	p.Met1881Ile	rs1376848279	missense variant	-	NC_000001.11:g.43621220G>A	TOPMed
PTPRF	P10586	p.Thr1884Ala	rs962970239	missense variant	-	NC_000001.11:g.43621227A>G	TOPMed,gnomAD
PTPRF	P10586	p.Thr1884Ser	rs962970239	missense variant	-	NC_000001.11:g.43621227A>T	TOPMed,gnomAD
PTPRF	P10586	p.Asp1886Gly	rs1342550191	missense variant	-	NC_000001.11:g.43621936A>G	gnomAD
PTPRF	P10586	p.Gln1889Arg	rs200249684	missense variant	-	NC_000001.11:g.43621945A>G	1000Genomes,ExAC,gnomAD
PTPRF	P10586	p.Arg1893His	rs141490430	missense variant	-	NC_000001.11:g.43621957G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Arg1893Cys	rs986176825	missense variant	-	NC_000001.11:g.43621956C>T	TOPMed,gnomAD
PTPRF	P10586	p.Ala1894Val	rs764413298	missense variant	-	NC_000001.11:g.43621960C>T	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Leu1899Phe	rs757485025	missense variant	-	NC_000001.11:g.43621974C>T	ExAC,gnomAD
PTPRF	P10586	p.Gly1900Ser	rs750446848	missense variant	-	NC_000001.11:g.43621977G>A	ExAC,TOPMed,gnomAD
PTPRF	P10586	p.Ser1901Ile	rs1384098301	missense variant	-	NC_000001.11:g.43621981G>T	gnomAD
PTPRF	P10586	p.Phe1902Ile	rs1458174624	missense variant	-	NC_000001.11:g.43621983T>A	TOPMed
PTPRF	P10586	p.His1904Asn	COSM426318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.43621989C>A	NCI-TCGA Cosmic
PTPRF	P10586	p.Tyr1905Cys	rs145316280	missense variant	-	NC_000001.11:g.43621993A>G	ESP,gnomAD
PTPRF	P10586	p.Thr1907Met	rs1287556112	missense variant	-	NC_000001.11:g.43621999C>T	TOPMed,gnomAD
TGFB3	P10600	p.Met1Lys	RCV000538292	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980892A>T	ClinVar
TGFB3	P10600	p.Lys2Asn	COSM958031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75980888C>A	NCI-TCGA Cosmic
TGFB3	P10600	p.His4Arg	RCV000428373	missense variant	-	NC_000014.9:g.75980883T>C	ClinVar
TGFB3	P10600	p.His4Tyr	rs997664741	missense variant	-	NC_000014.9:g.75980884G>A	TOPMed
TGFB3	P10600	p.His4Arg	rs371772819	missense variant	-	NC_000014.9:g.75980883T>C	ESP,TOPMed,gnomAD
TGFB3	P10600	p.His4Tyr	RCV000620302	missense variant	-	NC_000014.9:g.75980884G>A	ClinVar
TGFB3	P10600	p.His4Arg	RCV000618428	missense variant	-	NC_000014.9:g.75980883T>C	ClinVar
TGFB3	P10600	p.Gln6Glu	rs367967889	missense variant	-	NC_000014.9:g.75980878G>C	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ala13Ser	rs764219662	missense variant	-	NC_000014.9:g.75980857C>A	ExAC,gnomAD
TGFB3	P10600	p.Leu14Met	rs775822611	missense variant	-	NC_000014.9:g.75980854G>T	ExAC,gnomAD
TGFB3	P10600	p.Leu14Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75980853A>G	NCI-TCGA
TGFB3	P10600	p.Asn16Lys	rs759358916	missense variant	-	NC_000014.9:g.75980846G>C	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Asn16Lys	rs759358916	missense variant	-	NC_000014.9:g.75980846G>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Phe17Cys	rs776354980	missense variant	-	NC_000014.9:g.75980844A>C	ExAC,gnomAD
TGFB3	P10600	p.Thr19Met	rs770761155	missense variant	-	NC_000014.9:g.75980838G>A	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Leu22Phe	rs1384673775	missense variant	-	NC_000014.9:g.75980830G>A	gnomAD
TGFB3	P10600	p.Ser23Cys	rs746886966	missense variant	-	NC_000014.9:g.75980826G>C	ExAC,gnomAD
TGFB3	P10600	p.Thr26Ser	RCV000704957	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980817G>C	ClinVar
TGFB3	P10600	p.Thr26Ser	RCV000428232	missense variant	-	NC_000014.9:g.75980817G>C	ClinVar
TGFB3	P10600	p.Thr26Ser	rs771543236	missense variant	-	NC_000014.9:g.75980817G>C	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Thr28Pro	rs564013964	missense variant	-	NC_000014.9:g.75980812T>G	1000Genomes,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Thr28Pro	RCV000229793	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980812T>G	ClinVar
TGFB3	P10600	p.Phe32Leu	rs748977151	missense variant	-	NC_000014.9:g.75980798G>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Phe32Ile	rs1194816649	missense variant	-	NC_000014.9:g.75980800A>T	TOPMed
TGFB3	P10600	p.Gly33Ser	RCV000619146	missense variant	-	NC_000014.9:g.75980797C>T	ClinVar
TGFB3	P10600	p.Gly33Ser	rs781353815	missense variant	-	NC_000014.9:g.75980797C>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Gly33Ser	RCV000457494	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980797C>T	ClinVar
TGFB3	P10600	p.His34Arg	rs199791687	missense variant	-	NC_000014.9:g.75980793T>C	1000Genomes,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ile35Val	rs1419846236	missense variant	-	NC_000014.9:g.75980791T>C	TOPMed
TGFB3	P10600	p.Lys36Ter	RCV000579262	nonsense	-	NC_000014.9:g.75980788T>A	ClinVar
TGFB3	P10600	p.Lys36Ter	rs1555361451	stop gained	-	NC_000014.9:g.75980788T>A	-
TGFB3	P10600	p.Lys38Asn	COSM4826323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75980780C>G	NCI-TCGA Cosmic
TGFB3	P10600	p.Val40Leu	rs1262921400	missense variant	-	NC_000014.9:g.75980776C>A	TOPMed,gnomAD
TGFB3	P10600	p.Glu41Lys	rs758527616	missense variant	-	NC_000014.9:g.75980773C>T	ExAC,gnomAD
TGFB3	P10600	p.Ala42Gly	rs1276359681	missense variant	-	NC_000014.9:g.75980769G>C	gnomAD
TGFB3	P10600	p.Ile43Val	rs752881332	missense variant	-	NC_000014.9:g.75980767T>C	ExAC,gnomAD
TGFB3	P10600	p.Ile43Thr	rs765490133	missense variant	-	NC_000014.9:g.75980766A>G	ExAC,gnomAD
TGFB3	P10600	p.Gln46Glu	rs776922148	missense variant	-	NC_000014.9:g.75980758G>C	ExAC,gnomAD
TGFB3	P10600	p.Ile47Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75980754A>T	NCI-TCGA
TGFB3	P10600	p.Ile47Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75980753G>C	NCI-TCGA
TGFB3	P10600	p.Ser49Cys	rs1353571180	missense variant	-	NC_000014.9:g.75980749T>A	TOPMed,gnomAD
TGFB3	P10600	p.Ser49Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75980747G>T	NCI-TCGA
TGFB3	P10600	p.Arg52Gly	rs1441479444	missense variant	-	NC_000014.9:g.75980740T>C	TOPMed
TGFB3	P10600	p.Ser55Asn	RCV000770648	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000014.9:g.75980730C>T	ClinVar
TGFB3	P10600	p.Ser55Arg	rs1362724996	missense variant	-	NC_000014.9:g.75980729G>T	TOPMed
TGFB3	P10600	p.Ser55Thr	rs143229915	missense variant	-	NC_000014.9:g.75980730C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ser55Asn	rs143229915	missense variant	-	NC_000014.9:g.75980730C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ser55Asn	RCV000618120	missense variant	-	NC_000014.9:g.75980730C>T	ClinVar
TGFB3	P10600	p.Pro56Ser	rs747653529	missense variant	-	NC_000014.9:g.75980728G>A	ExAC,gnomAD
TGFB3	P10600	p.Pro56Leu	rs773670363	missense variant	-	NC_000014.9:g.75980727G>A	ExAC,gnomAD
TGFB3	P10600	p.Glu58Gly	rs1180676806	missense variant	-	NC_000014.9:g.75980721T>C	gnomAD
TGFB3	P10600	p.Pro59Ala	rs748843666	missense variant	-	NC_000014.9:g.75980719G>C	ExAC,gnomAD
TGFB3	P10600	p.Thr60Met	rs4252315	missense variant	-	NC_000014.9:g.75980715G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Thr60Met	RCV000234590	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980715G>A	ClinVar
TGFB3	P10600	p.Thr60Met	RCV000422788	missense variant	-	NC_000014.9:g.75980715G>A	ClinVar
TGFB3	P10600	p.Thr63Asn	rs757664433	missense variant	-	NC_000014.9:g.75980706G>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Thr63Ala	rs1340393732	missense variant	-	NC_000014.9:g.75980707T>C	TOPMed
TGFB3	P10600	p.Thr63Ile	rs757664433	missense variant	-	NC_000014.9:g.75980706G>A	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Val65Ile	rs201059075	missense variant	-	NC_000014.9:g.75980701C>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Val65Ile	RCV000474711	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980701C>T	ClinVar
TGFB3	P10600	p.Pro66Thr	COSM958030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75980698G>T	NCI-TCGA Cosmic
TGFB3	P10600	p.Tyr67Cys	rs759038232	missense variant	-	NC_000014.9:g.75980694T>C	ExAC,gnomAD
TGFB3	P10600	p.Tyr67His	rs1214820284	missense variant	-	NC_000014.9:g.75980695A>G	TOPMed
TGFB3	P10600	p.Gln68Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75980691T>A	NCI-TCGA
TGFB3	P10600	p.Asn74Thr	rs1279947435	missense variant	-	NC_000014.9:g.75980673T>G	gnomAD
TGFB3	P10600	p.Asn74Ser	rs1279947435	missense variant	-	NC_000014.9:g.75980673T>C	gnomAD
TGFB3	P10600	p.Asn74Ser	RCV000527997	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980673T>C	ClinVar
TGFB3	P10600	p.Ser75Gly	rs778796326	missense variant	-	NC_000014.9:g.75980671T>C	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg77Gln	rs1036545575	missense variant	-	NC_000014.9:g.75980664C>T	TOPMed,gnomAD
TGFB3	P10600	p.Arg77Trp	rs150817760	missense variant	-	NC_000014.9:g.75980665G>A	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg77Gly	rs150817760	missense variant	-	NC_000014.9:g.75980665G>C	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Leu79Val	rs371230847	missense variant	-	NC_000014.9:g.75980659G>C	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Glu82Gly	rs766677704	missense variant	-	NC_000014.9:g.75980649T>C	ExAC,gnomAD
TGFB3	P10600	p.Glu82Asp	rs1361399074	missense variant	-	NC_000014.9:g.75980648C>G	gnomAD
TGFB3	P10600	p.His84Leu	rs1332691426	missense variant	-	NC_000014.9:g.75980643T>A	gnomAD
TGFB3	P10600	p.Gly85Arg	rs541426751	missense variant	-	NC_000014.9:g.75980641C>T	1000Genomes,ExAC,gnomAD
TGFB3	P10600	p.Glu86Asp	rs761683627	missense variant	-	NC_000014.9:g.75980636C>A	ExAC,gnomAD
TGFB3	P10600	p.Arg87Lys	rs1379970824	missense variant	-	NC_000014.9:g.75980634C>T	TOPMed,gnomAD
TGFB3	P10600	p.Arg87Met	rs1379970824	missense variant	-	NC_000014.9:g.75980634C>A	TOPMed,gnomAD
TGFB3	P10600	p.Gly90Ser	rs1158295068	missense variant	-	NC_000014.9:g.75980626C>T	TOPMed
TGFB3	P10600	p.Cys91Tyr	rs1386422914	missense variant	-	NC_000014.9:g.75980622C>T	TOPMed
TGFB3	P10600	p.Glu94Gly	rs768011820	missense variant	-	NC_000014.9:g.75980613T>C	ExAC,gnomAD
TGFB3	P10600	p.Asn95Thr	rs1383694236	missense variant	-	NC_000014.9:g.75980610T>G	TOPMed
TGFB3	P10600	p.Asn95Ser	COSM3690209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75980610T>C	NCI-TCGA Cosmic
TGFB3	P10600	p.Glu97Lys	RCV000587920	missense variant	-	NC_000014.9:g.75980605C>T	ClinVar
TGFB3	P10600	p.Glu97Asp	rs1286432002	missense variant	-	NC_000014.9:g.75980603C>A	gnomAD
TGFB3	P10600	p.Glu97Val	rs888198562	missense variant	-	NC_000014.9:g.75980604T>A	TOPMed,gnomAD
TGFB3	P10600	p.Glu97Lys	rs769627183	missense variant	-	NC_000014.9:g.75980605C>T	ExAC,gnomAD
TGFB3	P10600	p.Ser98Trp	rs142047577	missense variant	-	NC_000014.9:g.75980601G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ser98Leu	rs142047577	missense variant	-	NC_000014.9:g.75980601G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ser98Leu	RCV000461698	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980601G>A	ClinVar
TGFB3	P10600	p.Ser98Leu	RCV000852702	missense variant	Hypertrophic cardiomyopathy	NC_000014.9:g.75980601G>A	ClinVar
TGFB3	P10600	p.Ser98Leu	RCV000172592	missense variant	-	NC_000014.9:g.75980601G>A	ClinVar
TGFB3	P10600	p.Ser98Leu	RCV000243234	missense variant	-	NC_000014.9:g.75980601G>A	ClinVar
TGFB3	P10600	p.Glu99Ala	rs1284946081	missense variant	-	NC_000014.9:g.75980598T>G	gnomAD
TGFB3	P10600	p.Tyr100His	rs1228534980	missense variant	-	NC_000014.9:g.75980596A>G	gnomAD
TGFB3	P10600	p.Tyr101Asn	rs1380630603	missense variant	-	NC_000014.9:g.75980593A>T	TOPMed,gnomAD
TGFB3	P10600	p.Tyr101Asp	rs1380630603	missense variant	-	NC_000014.9:g.75980593A>C	TOPMed,gnomAD
TGFB3	P10600	p.Tyr101His	rs1380630603	missense variant	-	NC_000014.9:g.75980593A>G	TOPMed,gnomAD
TGFB3	P10600	p.Tyr101His	RCV000705953	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75980593A>G	ClinVar
TGFB3	P10600	p.Ala102Val	rs772575568	missense variant	-	NC_000014.9:g.75980589G>A	ExAC,gnomAD
TGFB3	P10600	p.Glu104Ter	COSM5478766	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.75980584C>A	NCI-TCGA Cosmic
TGFB3	P10600	p.Ile105Thr	rs748551013	missense variant	-	NC_000014.9:g.75980580A>G	ExAC,gnomAD
TGFB3	P10600	p.Phe108Ser	rs1555361384	missense variant	-	NC_000014.9:g.75980571A>G	-
TGFB3	P10600	p.Phe108Ter	RCV000509830	frameshift	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75980575dup	ClinVar
TGFB3	P10600	p.Phe108Ser	RCV000621669	missense variant	-	NC_000014.9:g.75980571A>G	ClinVar
TGFB3	P10600	p.Asp109His	rs986180095	missense variant	-	NC_000014.9:g.75980569C>G	gnomAD
TGFB3	P10600	p.Asp109Asn	rs986180095	missense variant	-	NC_000014.9:g.75980569C>T	gnomAD
TGFB3	P10600	p.Asp109Glu	rs1418317779	missense variant	-	NC_000014.9:g.75980567G>T	TOPMed,gnomAD
TGFB3	P10600	p.Met110Thr	rs1360294464	missense variant	-	NC_000014.9:g.75980565A>G	gnomAD
TGFB3	P10600	p.Gly113Glu	RCV000617232	missense variant	-	NC_000014.9:g.75980556C>T	ClinVar
TGFB3	P10600	p.Gly113Glu	rs1555361380	missense variant	-	NC_000014.9:g.75980556C>T	-
TGFB3	P10600	p.Gly113Arg	rs1164387889	missense variant	-	NC_000014.9:g.75980557C>T	gnomAD
TGFB3	P10600	p.Ala115Glu	rs754010536	missense variant	-	NC_000014.9:g.75980550G>T	ExAC,gnomAD
TGFB3	P10600	p.Ala115Val	rs754010536	missense variant	-	NC_000014.9:g.75980550G>A	ExAC,gnomAD
TGFB3	P10600	p.Ala115Thr	rs138840538	missense variant	-	NC_000014.9:g.75980551C>T	ESP,ExAC,TOPMed
TGFB3	P10600	p.Glu116Gly	rs1411673111	missense variant	-	NC_000014.9:g.75980547T>C	gnomAD
TGFB3	P10600	p.His117Tyr	rs1442229773	missense variant	-	NC_000014.9:g.75980545G>A	TOPMed
TGFB3	P10600	p.Asn118Lys	rs145051522	missense variant	-	NC_000014.9:g.75971717G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ala121Pro	rs944621196	missense variant	-	NC_000014.9:g.75971710C>G	TOPMed,gnomAD
TGFB3	P10600	p.Val122Leu	rs779277167	missense variant	-	NC_000014.9:g.75971707C>G	ExAC,gnomAD
TGFB3	P10600	p.Val122Ile	rs779277167	missense variant	-	NC_000014.9:g.75971707C>T	ExAC,gnomAD
TGFB3	P10600	p.Lys125Glu	rs1345608097	missense variant	-	NC_000014.9:g.75971698T>C	TOPMed
TGFB3	P10600	p.Ile127Thr	rs1259454103	missense variant	-	NC_000014.9:g.75971691A>G	gnomAD
TGFB3	P10600	p.Thr128Asn	rs1297280833	missense variant	-	NC_000014.9:g.75971688G>T	gnomAD
TGFB3	P10600	p.Ser129Phe	rs769276402	missense variant	-	NC_000014.9:g.75971685G>A	ExAC
TGFB3	P10600	p.Lys130Arg	RCV000530954	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971682T>C	ClinVar
TGFB3	P10600	p.Lys130Arg	rs780051351	missense variant	-	NC_000014.9:g.75971682T>C	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Phe132Ser	rs1555360876	missense variant	-	NC_000014.9:g.75971676A>G	-
TGFB3	P10600	p.Phe132Ser	RCV000619584	missense variant	-	NC_000014.9:g.75971676A>G	ClinVar
TGFB3	P10600	p.Arg133His	rs761890018	missense variant	-	NC_000014.9:g.75971673C>T	gnomAD
TGFB3	P10600	p.Arg133Gly	rs1221353422	missense variant	-	NC_000014.9:g.75971674G>C	TOPMed,gnomAD
TGFB3	P10600	p.Arg133Pro	rs761890018	missense variant	-	NC_000014.9:g.75971673C>G	gnomAD
TGFB3	P10600	p.Arg133Cys	rs1221353422	missense variant	-	NC_000014.9:g.75971674G>A	TOPMed,gnomAD
TGFB3	P10600	p.Val136Met	rs1447808778	missense variant	-	NC_000014.9:g.75971665C>T	gnomAD
TGFB3	P10600	p.Ser137Ala	rs1329428163	missense variant	-	NC_000014.9:g.75971662A>C	gnomAD
TGFB3	P10600	p.Ser137Phe	rs1463969797	missense variant	-	NC_000014.9:g.75971661G>A	gnomAD
TGFB3	P10600	p.Ser138Ala	rs201453600	missense variant	-	NC_000014.9:g.75971659A>C	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ser138Ala	RCV000279861	missense variant	Arrhythmogenic right ventricular cardiomyopathy (ARVD)	NC_000014.9:g.75971659A>C	ClinVar
TGFB3	P10600	p.Ser138Ala	RCV000226558	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971659A>C	ClinVar
TGFB3	P10600	p.Ser138Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75971658G>A	NCI-TCGA
TGFB3	P10600	p.Ser138Ala	RCV000618312	missense variant	-	NC_000014.9:g.75971659A>C	ClinVar
TGFB3	P10600	p.Ser138Ala	RCV000660313	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75971659A>C	ClinVar
TGFB3	P10600	p.Ser138Ala	RCV000489572	missense variant	-	NC_000014.9:g.75971659A>C	ClinVar
TGFB3	P10600	p.Val139Ala	rs1422804503	missense variant	-	NC_000014.9:g.75971655A>G	gnomAD
TGFB3	P10600	p.Glu140Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75971653C>T	NCI-TCGA
TGFB3	P10600	p.Glu140Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75971651C>G	NCI-TCGA
TGFB3	P10600	p.Asn142Tyr	rs1421008373	missense variant	-	NC_000014.9:g.75971647T>A	TOPMed
TGFB3	P10600	p.Asn142IlePheSerTerUnkUnk	COSM1371188	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.75971646T>-	NCI-TCGA Cosmic
TGFB3	P10600	p.Arg143Lys	rs532403511	missense variant	-	NC_000014.9:g.75971643C>T	1000Genomes,ExAC,gnomAD
TGFB3	P10600	p.Phe147Cys	rs752691299	missense variant	-	NC_000014.9:g.75971631A>C	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Phe147Leu	rs560468476	missense variant	-	NC_000014.9:g.75971630G>C	1000Genomes,ExAC,gnomAD
TGFB3	P10600	p.Arg148Ter	RCV000817993	nonsense	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971629G>A	ClinVar
TGFB3	P10600	p.Arg148Gln	rs776388495	missense variant	-	NC_000014.9:g.75971628C>T	ExAC,gnomAD
TGFB3	P10600	p.Arg148Ter	rs1057523647	stop gained	-	NC_000014.9:g.75971629G>A	-
TGFB3	P10600	p.Glu150Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.75971623C>A	NCI-TCGA
TGFB3	P10600	p.Phe151Cys	rs1395042423	missense variant	-	NC_000014.9:g.75971619A>C	TOPMed
TGFB3	P10600	p.Arg152Gln	rs774715190	missense variant	-	NC_000014.9:g.75971616C>T	ExAC,gnomAD
TGFB3	P10600	p.Arg152Trp	rs546744152	missense variant	-	NC_000014.9:g.75971617G>A	1000Genomes,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg152Trp	RCV000654902	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971617G>A	ClinVar
TGFB3	P10600	p.Val153Ile	rs1461794105	missense variant	-	NC_000014.9:g.75971614C>T	TOPMed
TGFB3	P10600	p.Arg155Gln	rs925224125	missense variant	-	NC_000014.9:g.75971607C>T	TOPMed,gnomAD
TGFB3	P10600	p.Arg155Trp	rs868258653	missense variant	-	NC_000014.9:g.75971608G>A	TOPMed
TGFB3	P10600	p.Arg155Trp	RCV000654903	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971608G>A	ClinVar
TGFB3	P10600	p.Pro159Thr	rs1379443147	missense variant	-	NC_000014.9:g.75971596G>T	gnomAD
TGFB3	P10600	p.Ser160Asn	rs983700048	missense variant	-	NC_000014.9:g.75971592C>T	TOPMed,gnomAD
TGFB3	P10600	p.Ser160Gly	rs1324592403	missense variant	-	NC_000014.9:g.75971593T>C	TOPMed
TGFB3	P10600	p.Lys162Glu	rs749754584	missense variant	-	NC_000014.9:g.75971587T>C	ExAC,gnomAD
TGFB3	P10600	p.Arg163Trp	rs142601521	missense variant	-	NC_000014.9:g.75971584G>A	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg163Gln	RCV000465880	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971583C>T	ClinVar
TGFB3	P10600	p.Arg163Gln	RCV000520464	missense variant	-	NC_000014.9:g.75971583C>T	ClinVar
TGFB3	P10600	p.Arg163Trp	RCV000654899	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971584G>A	ClinVar
TGFB3	P10600	p.Arg163Trp	RCV000412926	missense variant	-	NC_000014.9:g.75971584G>A	ClinVar
TGFB3	P10600	p.Arg163Gly	rs142601521	missense variant	-	NC_000014.9:g.75971584G>C	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg163Gln	rs920721092	missense variant	-	NC_000014.9:g.75971583C>T	TOPMed,gnomAD
TGFB3	P10600	p.Arg163Trp	RCV000172112	missense variant	-	NC_000014.9:g.75971584G>A	ClinVar
TGFB3	P10600	p.Ile168Met	rs148029842	missense variant	-	NC_000014.9:g.75971567G>C	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ile168Met	RCV000786406	missense variant	-	NC_000014.9:g.75971567G>C	ClinVar
TGFB3	P10600	p.Ile168Leu	rs1191369907	missense variant	-	NC_000014.9:g.75971569T>G	gnomAD
TGFB3	P10600	p.Ile168Met	RCV000621268	missense variant	-	NC_000014.9:g.75971567G>C	ClinVar
TGFB3	P10600	p.Ile168Met	RCV000654895	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971567G>C	ClinVar
TGFB3	P10600	p.Glu169Lys	rs1555360808	missense variant	-	NC_000014.9:g.75971566C>T	-
TGFB3	P10600	p.Glu169Gly	rs1172825066	missense variant	-	NC_000014.9:g.75971565T>C	gnomAD
TGFB3	P10600	p.Glu169Lys	RCV000654900	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971566C>T	ClinVar
TGFB3	P10600	p.Glu169Lys	RCV000617523	missense variant	-	NC_000014.9:g.75971566C>T	ClinVar
TGFB3	P10600	p.Leu170Val	rs1381847560	missense variant	-	NC_000014.9:g.75971563G>C	gnomAD
TGFB3	P10600	p.Leu174His	rs869025534	missense variant	-	NC_000014.9:g.75971251A>T	TOPMed,gnomAD
TGFB3	P10600	p.Leu174His	RCV000232112	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971251A>T	ClinVar
TGFB3	P10600	p.Leu174His	RCV000208388	missense variant	Arrhythmogenic right ventricular cardiomyopathy (ARVD)	NC_000014.9:g.75971251A>T	ClinVar
TGFB3	P10600	p.Arg175Gln	rs1319852054	missense variant	-	NC_000014.9:g.75971248C>T	gnomAD
TGFB3	P10600	p.Arg175Trp	rs958240577	missense variant	-	NC_000014.9:g.75971249G>A	TOPMed
TGFB3	P10600	p.Pro176Leu	rs779569139	missense variant	-	NC_000014.9:g.75971245G>A	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Asp177Asn	rs755611135	missense variant	-	NC_000014.9:g.75971243C>T	ExAC,gnomAD
TGFB3	P10600	p.Asp177Glu	rs1296141902	missense variant	-	NC_000014.9:g.75971241A>T	gnomAD
TGFB3	P10600	p.Arg184His	rs996991722	missense variant	-	NC_000014.9:g.75971221C>T	TOPMed
TGFB3	P10600	p.Arg184Cys	rs767125999	missense variant	-	NC_000014.9:g.75971222G>A	ExAC,gnomAD
TGFB3	P10600	p.Tyr185Cys	rs1398807973	missense variant	-	NC_000014.9:g.75971218T>C	gnomAD
TGFB3	P10600	p.Ile186Ser	rs763289805	missense variant	-	NC_000014.9:g.75971215A>C	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Ile186Ser	RCV000788807	missense variant	-	NC_000014.9:g.75971215A>C	ClinVar
TGFB3	P10600	p.Ile186Ser	RCV000456396	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971215A>C	ClinVar
TGFB3	P10600	p.Gly187Ser	rs201063101	missense variant	-	NC_000014.9:g.75971213C>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Gly187Ser	RCV000172111	missense variant	-	NC_000014.9:g.75971213C>T	ClinVar
TGFB3	P10600	p.Gly187Arg	rs201063101	missense variant	-	NC_000014.9:g.75971213C>G	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Gly187Ser	RCV000654898	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971213C>T	ClinVar
TGFB3	P10600	p.Gly188Ala	rs1171935854	missense variant	-	NC_000014.9:g.75971209C>G	gnomAD
TGFB3	P10600	p.Thr193Ile	COSM958023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971194G>A	NCI-TCGA Cosmic
TGFB3	P10600	p.Arg194Gln	rs760707107	missense variant	-	NC_000014.9:g.75971191C>T	ExAC,gnomAD
TGFB3	P10600	p.Arg194Pro	rs760707107	missense variant	-	NC_000014.9:g.75971191C>G	ExAC,gnomAD
TGFB3	P10600	p.Arg194Trp	RCV000466645	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971192G>A	ClinVar
TGFB3	P10600	p.Arg194Trp	rs368004396	missense variant	-	NC_000014.9:g.75971192G>A	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg194Leu	rs760707107	missense variant	-	NC_000014.9:g.75971191C>A	ExAC,gnomAD
TGFB3	P10600	p.Arg194Pro	RCV000621515	missense variant	-	NC_000014.9:g.75971191C>G	ClinVar
TGFB3	P10600	p.Gly195Val	rs773458344	missense variant	-	NC_000014.9:g.75971188C>A	ExAC,gnomAD
TGFB3	P10600	p.Ala197Val	rs772252884	missense variant	-	NC_000014.9:g.75971182G>A	ExAC,gnomAD
TGFB3	P10600	p.Glu198Lys	rs778797205	missense variant	-	NC_000014.9:g.75971180C>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Trp199Ter	COSM1640158	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.75971175C>T	NCI-TCGA Cosmic
TGFB3	P10600	p.Leu200Met	COSM958022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971174G>T	NCI-TCGA Cosmic
TGFB3	P10600	p.Ser201Ala	rs768598579	missense variant	-	NC_000014.9:g.75971171A>C	ExAC,gnomAD
TGFB3	P10600	p.Phe202Val	rs1474433492	missense variant	-	NC_000014.9:g.75971168A>C	TOPMed,gnomAD
TGFB3	P10600	p.Phe202Val	RCV000654897	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971168A>C	ClinVar
TGFB3	P10600	p.Asp203Asn	rs1226495999	missense variant	-	NC_000014.9:g.75971165C>T	gnomAD
TGFB3	P10600	p.Asp203Glu	rs1331320163	missense variant	-	NC_000014.9:g.75971163A>C	gnomAD
TGFB3	P10600	p.Val204Ala	rs1555360774	missense variant	-	NC_000014.9:g.75971161A>G	-
TGFB3	P10600	p.Val204Ala	RCV000529740	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75971161A>G	ClinVar
TGFB3	P10600	p.Val204Ile	COSM433390	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971162C>T	NCI-TCGA Cosmic
TGFB3	P10600	p.Val204Asp	COSM4052525	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971161A>T	NCI-TCGA Cosmic
TGFB3	P10600	p.Asp206His	COSM4937988	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75971156C>G	NCI-TCGA Cosmic
TGFB3	P10600	p.Thr207Ile	rs1384728669	missense variant	-	NC_000014.9:g.75971152G>A	gnomAD
TGFB3	P10600	p.Arg209Leu	rs779897294	missense variant	-	NC_000014.9:g.75971146C>A	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg209His	rs779897294	missense variant	-	NC_000014.9:g.75971146C>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg209Cys	rs1331488615	missense variant	-	NC_000014.9:g.75971147G>A	gnomAD
TGFB3	P10600	p.Arg209His	RCV000619148	missense variant	-	NC_000014.9:g.75971146C>T	ClinVar
TGFB3	P10600	p.Leu213Ser	rs1333389859	missense variant	-	NC_000014.9:g.75971134A>G	TOPMed
TGFB3	P10600	p.Glu216Gly	rs775486607	missense variant	-	NC_000014.9:g.75965695T>C	ExAC,gnomAD
TGFB3	P10600	p.Ser217Tyr	rs1234848884	missense variant	-	NC_000014.9:g.75965692G>T	TOPMed,gnomAD
TGFB3	P10600	p.Ser217Cys	rs1234848884	missense variant	-	NC_000014.9:g.75965692G>C	TOPMed,gnomAD
TGFB3	P10600	p.Leu219Phe	rs1442967001	missense variant	-	NC_000014.9:g.75965685T>G	gnomAD
TGFB3	P10600	p.Cys227Tyr	rs1280447804	missense variant	-	NC_000014.9:g.75965662C>T	gnomAD
TGFB3	P10600	p.Gln233Leu	rs1349938834	missense variant	-	NC_000014.9:g.75965644T>A	TOPMed
TGFB3	P10600	p.Gln233Leu	RCV000244609	missense variant	-	NC_000014.9:g.75965644T>A	ClinVar
TGFB3	P10600	p.Asn235Ter	RCV000185631	frameshift	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75965639del	ClinVar
TGFB3	P10600	p.Gly236Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75965636C>T	NCI-TCGA
TGFB3	P10600	p.Ile238Val	rs1249703177	missense variant	-	NC_000014.9:g.75965630T>C	TOPMed
TGFB3	P10600	p.His243Asn	rs1045402283	missense variant	-	NC_000014.9:g.75965615G>T	TOPMed
TGFB3	P10600	p.Glu244Lys	rs1085307755	missense variant	-	NC_000014.9:g.75965612C>T	-
TGFB3	P10600	p.Glu244Lys	RCV000490126	missense variant	-	NC_000014.9:g.75965612C>T	ClinVar
TGFB3	P10600	p.Glu244Lys	RCV000620015	missense variant	-	NC_000014.9:g.75965612C>T	ClinVar
TGFB3	P10600	p.Lys251Arg	rs755309898	missense variant	-	NC_000014.9:g.75965590T>C	ExAC,gnomAD
TGFB3	P10600	p.Gly252Ser	RCV000420017	missense variant	-	NC_000014.9:g.75965588C>T	ClinVar
TGFB3	P10600	p.Gly252Ser	rs1057524806	missense variant	-	NC_000014.9:g.75965588C>T	-
TGFB3	P10600	p.Val253Met	rs532517095	missense variant	-	NC_000014.9:g.75963485C>T	1000Genomes,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Asp254Tyr	rs764272549	missense variant	-	NC_000014.9:g.75963482C>A	ExAC,gnomAD
TGFB3	P10600	p.Asp254Glu	rs763026327	missense variant	-	NC_000014.9:g.75963480G>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Glu256Lys	rs752984800	missense variant	-	NC_000014.9:g.75963476C>T	ExAC,gnomAD
TGFB3	P10600	p.Asp257Ala	rs764900652	missense variant	-	NC_000014.9:g.75963472T>G	ExAC,gnomAD
TGFB3	P10600	p.Asp257Asn	COSM4893151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75963473C>T	NCI-TCGA Cosmic
TGFB3	P10600	p.Gly260Ser	rs1221859306	missense variant	-	NC_000014.9:g.75963464C>T	TOPMed,gnomAD
TGFB3	P10600	p.Gly260Arg	rs1221859306	missense variant	-	NC_000014.9:g.75963464C>G	TOPMed,gnomAD
TGFB3	P10600	p.Arg261Pro	rs547264290	missense variant	-	NC_000014.9:g.75963460C>G	1000Genomes,ExAC,gnomAD
TGFB3	P10600	p.Arg261His	rs547264290	missense variant	-	NC_000014.9:g.75963460C>T	1000Genomes,ExAC,gnomAD
TGFB3	P10600	p.Arg261Pro	RCV000619884	missense variant	-	NC_000014.9:g.75963460C>G	ClinVar
TGFB3	P10600	p.Arg261Cys	rs560321456	missense variant	-	NC_000014.9:g.75963461G>A	1000Genomes
TGFB3	P10600	p.Arg261Cys	RCV000414511	missense variant	-	NC_000014.9:g.75963461G>A	ClinVar
TGFB3	P10600	p.Asp263His	rs796051886	missense variant	-	NC_000014.9:g.75963455C>G	-
TGFB3	P10600	p.Asp263His	RCV000498355	missense variant	Hypertrophic cardiomyopathy	NC_000014.9:g.75963455C>G	ClinVar
TGFB3	P10600	p.Arg266Cys	rs770911263	missense variant	-	NC_000014.9:g.75963446G>A	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg266His	rs142069844	missense variant	-	NC_000014.9:g.75963445C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg266Leu	rs142069844	missense variant	-	NC_000014.9:g.75963445C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg266His	RCV000622245	missense variant	-	NC_000014.9:g.75963445C>T	ClinVar
TGFB3	P10600	p.Arg266His	RCV000470741	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963445C>T	ClinVar
TGFB3	P10600	p.Arg266Leu	RCV000537920	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963445C>A	ClinVar
TGFB3	P10600	p.Arg266His	RCV000424450	missense variant	-	NC_000014.9:g.75963445C>T	ClinVar
TGFB3	P10600	p.Lys268Asn	COSM958020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75963438C>A	NCI-TCGA Cosmic
TGFB3	P10600	p.Lys269Arg	RCV000543725	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963436T>C	ClinVar
TGFB3	P10600	p.Lys269Arg	rs771638085	missense variant	-	NC_000014.9:g.75963436T>C	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Gln270Arg	rs561423382	missense variant	-	NC_000014.9:g.75963433T>C	1000Genomes
TGFB3	P10600	p.Lys271Asn	rs147601018	missense variant	-	NC_000014.9:g.75963429C>G	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Lys271Asn	RCV000558791	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963429C>G	ClinVar
TGFB3	P10600	p.Asp272Glu	rs778672048	missense variant	-	NC_000014.9:g.75963426A>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Pro276Ser	RCV000425131	missense variant	-	NC_000014.9:g.75963416G>A	ClinVar
TGFB3	P10600	p.Pro276Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75963415G>A	NCI-TCGA
TGFB3	P10600	p.Pro276Ser	rs1057522944	missense variant	-	NC_000014.9:g.75963416G>A	-
TGFB3	P10600	p.His277Arg	rs1382239332	missense variant	-	NC_000014.9:g.75963412T>C	TOPMed
TGFB3	P10600	p.Met281Thr	rs1325349711	missense variant	-	NC_000014.9:g.75963400A>G	gnomAD
TGFB3	P10600	p.Met282Thr	rs781763854	missense variant	-	NC_000014.9:g.75963397A>G	ExAC,gnomAD
TGFB3	P10600	p.Ile283Thr	rs963158813	missense variant	-	NC_000014.9:g.75963394A>G	gnomAD
TGFB3	P10600	p.Pro284Ser	rs1018415204	missense variant	-	NC_000014.9:g.75963392G>A	TOPMed,gnomAD
TGFB3	P10600	p.Pro285Arg	rs1288935716	missense variant	-	NC_000014.9:g.75963388G>C	TOPMed,gnomAD
TGFB3	P10600	p.His286Gln	rs200626284	missense variant	-	NC_000014.9:g.75963384G>C	1000Genomes
TGFB3	P10600	p.His286Tyr	rs1293737156	missense variant	-	NC_000014.9:g.75963386G>A	TOPMed
TGFB3	P10600	p.His286ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.75963387_75963388insG	NCI-TCGA
TGFB3	P10600	p.Arg287Trp	RCV000756774	missense variant	-	NC_000014.9:g.75963383G>A	ClinVar
TGFB3	P10600	p.Arg287Trp	rs757774610	missense variant	-	NC_000014.9:g.75963383G>A	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg287Trp	RCV000824473	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963383G>A	ClinVar
TGFB3	P10600	p.Arg287Gln	rs1191368075	missense variant	-	NC_000014.9:g.75963382C>T	TOPMed,gnomAD
TGFB3	P10600	p.Leu288Pro	rs1259117546	missense variant	-	NC_000014.9:g.75963379A>G	TOPMed
TGFB3	P10600	p.Asp289Asn	rs777949995	missense variant	-	NC_000014.9:g.75963377C>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Pro291Leu	rs145121701	missense variant	-	NC_000014.9:g.75963370G>A	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Pro291Leu	RCV000473364	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963370G>A	ClinVar
TGFB3	P10600	p.Pro291Leu	RCV000482159	missense variant	-	NC_000014.9:g.75963370G>A	ClinVar
TGFB3	P10600	p.Gln293Pro	rs759234781	missense variant	-	NC_000014.9:g.75963364T>G	ExAC,gnomAD
TGFB3	P10600	p.Gly294Val	rs1419064846	missense variant	-	NC_000014.9:g.75963361C>A	TOPMed
TGFB3	P10600	p.Gly294Trp	rs753696538	missense variant	-	NC_000014.9:g.75963362C>A	ExAC,gnomAD
TGFB3	P10600	p.Gly295Val	rs760559695	missense variant	-	NC_000014.9:g.75963358C>A	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Gly295Ter	RCV000462294	frameshift	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963362_75963363del	ClinVar
TGFB3	P10600	p.Gly295Arg	rs766164843	missense variant	-	NC_000014.9:g.75963359C>G	ExAC,gnomAD
TGFB3	P10600	p.Gly295ValPheSerTerUnkUnk	COSM4733362	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.75963358C>-	NCI-TCGA Cosmic
TGFB3	P10600	p.Arg297Ser	rs773168068	missense variant	-	NC_000014.9:g.75963351C>A	ExAC
TGFB3	P10600	p.Arg297Ser	RCV000654901	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963351C>A	ClinVar
TGFB3	P10600	p.Lys298Ter	RCV000617261	frameshift	-	NC_000014.9:g.75963349_75963356dup	ClinVar
TGFB3	P10600	p.Lys298Ter	RCV000521380	frameshift	-	NC_000014.9:g.75963349_75963356dup	ClinVar
TGFB3	P10600	p.Arg300Gln	rs587777617	missense variant	-	NC_000014.9:g.75963343C>T	-
TGFB3	P10600	p.Arg300Trp	RCV000332014	missense variant	-	NC_000014.9:g.75963344G>A	ClinVar
TGFB3	P10600	p.Arg300Gln	RCV000133467	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75963343C>T	ClinVar
TGFB3	P10600	p.Arg300Trp	rs796051885	missense variant	-	NC_000014.9:g.75963344G>A	-
TGFB3	P10600	p.Asp303Ala	rs768423844	missense variant	-	NC_000014.9:g.75963334T>G	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Asn305Ser	rs369281541	missense variant	-	NC_000014.9:g.75963328T>C	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Asn305Thr	rs369281541	missense variant	-	NC_000014.9:g.75963328T>G	ESP,ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Tyr306Ter	RCV000654896	frameshift	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75963327del	ClinVar
TGFB3	P10600	p.Tyr306His	rs1299759608	missense variant	-	NC_000014.9:g.75963326A>G	gnomAD
TGFB3	P10600	p.Tyr306Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75963325T>C	NCI-TCGA
TGFB3	P10600	p.Tyr306His	RCV000622564	missense variant	Arrhythmogenic right ventricular cardiomyopathy (ARVD)	NC_000014.9:g.75963326A>G	ClinVar
TGFB3	P10600	p.Arg309His	RCV000431104	missense variant	-	NC_000014.9:g.75963316C>T	ClinVar
TGFB3	P10600	p.Arg309Cys	rs1353668442	missense variant	-	NC_000014.9:g.75963317G>A	gnomAD
TGFB3	P10600	p.Arg309His	rs1057524768	missense variant	-	NC_000014.9:g.75963316C>T	TOPMed
TGFB3	P10600	p.Asn310Thr	rs1194831540	missense variant	-	NC_000014.9:g.75961074T>G	TOPMed
TGFB3	P10600	p.Arg318His	rs761225134	missense variant	-	NC_000014.9:g.75961050C>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg318Cys	COSM4052521	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75961051G>A	NCI-TCGA Cosmic
TGFB3	P10600	p.Pro319Ser	rs773846624	missense variant	-	NC_000014.9:g.75961048G>A	ExAC,gnomAD
TGFB3	P10600	p.Ile322Thr	RCV000763946	missense variant	Arrhythmogenic right ventricular dysplasia, familial 1 (ARVD1)	NC_000014.9:g.75961038A>G	ClinVar
TGFB3	P10600	p.Ile322Thr	RCV000464759	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75961038A>G	ClinVar
TGFB3	P10600	p.Ile322Val	rs1555360234	missense variant	-	NC_000014.9:g.75961039T>C	-
TGFB3	P10600	p.Ile322Thr	rs762643638	missense variant	-	NC_000014.9:g.75961038A>G	ExAC,gnomAD
TGFB3	P10600	p.Ile322Val	RCV000619960	missense variant	-	NC_000014.9:g.75961039T>C	ClinVar
TGFB3	P10600	p.Arg325Gln	RCV000761886	missense variant	-	NC_000014.9:g.75961029C>T	ClinVar
TGFB3	P10600	p.Arg325Gln	RCV000414018	missense variant	-	NC_000014.9:g.75961029C>T	ClinVar
TGFB3	P10600	p.Arg325Gln	rs771391164	missense variant	-	NC_000014.9:g.75961029C>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg325Leu	rs771391164	missense variant	-	NC_000014.9:g.75961029C>A	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg325Ter	rs1555360229	stop gained	-	NC_000014.9:g.75961030G>A	-
TGFB3	P10600	p.Arg325Ter	RCV000620738	nonsense	-	NC_000014.9:g.75961030G>A	ClinVar
TGFB3	P10600	p.Asp327Tyr	rs747427366	missense variant	-	NC_000014.9:g.75961024C>A	ExAC,gnomAD
TGFB3	P10600	p.Asp327His	COSM1300839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.75961024C>G	NCI-TCGA Cosmic
TGFB3	P10600	p.Gly329Asp	rs772698647	missense variant	-	NC_000014.9:g.75961017C>T	ExAC,gnomAD
TGFB3	P10600	p.Trp330Ter	RCV000528556	nonsense	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75961014C>T	ClinVar
TGFB3	P10600	p.Trp330Ter	rs1555360222	stop gained	-	NC_000014.9:g.75961014C>T	-
TGFB3	P10600	p.Trp330Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75961013C>A	NCI-TCGA
TGFB3	P10600	p.Trp332Leu	rs1555360218	missense variant	-	NC_000014.9:g.75961008C>A	-
TGFB3	P10600	p.Trp332Leu	RCV000618623	missense variant	-	NC_000014.9:g.75961008C>A	ClinVar
TGFB3	P10600	p.His334Arg	rs1021920873	missense variant	-	NC_000014.9:g.75961002T>C	TOPMed
TGFB3	P10600	p.Tyr339Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.75960986G>C	NCI-TCGA
TGFB3	P10600	p.Tyr340Ter	rs778990969	stop gained	-	NC_000014.9:g.75960983A>T	ExAC,gnomAD
TGFB3	P10600	p.Tyr340Ter	RCV000497766	nonsense	-	NC_000014.9:g.75960983A>T	ClinVar
TGFB3	P10600	p.Ser345Ter	RCV000472175	nonsense	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75960969G>C	ClinVar
TGFB3	P10600	p.Ser345Leu	rs1060502827	missense variant	-	NC_000014.9:g.75960969G>A	gnomAD
TGFB3	P10600	p.Ser345Ter	rs1060502827	stop gained	-	NC_000014.9:g.75960969G>C	gnomAD
TGFB3	P10600	p.Pro347Arg	rs755084678	missense variant	-	NC_000014.9:g.75960963G>C	ExAC,gnomAD
TGFB3	P10600	p.Pro349Ser	rs1312092802	missense variant	-	NC_000014.9:g.75960958G>A	gnomAD
TGFB3	P10600	p.Tyr350Asn	rs1400200743	missense variant	-	NC_000014.9:g.75960955A>T	gnomAD
TGFB3	P10600	p.Arg352Cys	rs749485028	missense variant	-	NC_000014.9:g.75960949G>A	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Arg352His	RCV000618833	missense variant	-	NC_000014.9:g.75960948C>T	ClinVar
TGFB3	P10600	p.Arg352Cys	RCV000654904	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75960949G>A	ClinVar
TGFB3	P10600	p.Arg352His	rs755894337	missense variant	-	NC_000014.9:g.75960948C>T	ExAC,gnomAD
TGFB3	P10600	p.Arg352Leu	rs755894337	missense variant	-	NC_000014.9:g.75960948C>A	ExAC,gnomAD
TGFB3	P10600	p.Thr356Ala	rs1167674615	missense variant	-	NC_000014.9:g.75960937T>C	gnomAD
TGFB3	P10600	p.Ser359Thr	rs1474531974	missense variant	-	NC_000014.9:g.75960927C>G	TOPMed,gnomAD
TGFB3	P10600	p.Thr360Met	rs750299821	missense variant	-	NC_000014.9:g.75960924G>A	ExAC,gnomAD
TGFB3	P10600	p.Thr360Met	RCV000432914	missense variant	-	NC_000014.9:g.75960924G>A	ClinVar
TGFB3	P10600	p.Gly363Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.75959338C>T	NCI-TCGA
TGFB3	P10600	p.Leu364Met	rs748650364	missense variant	-	NC_000014.9:g.75959336G>T	ExAC,gnomAD
TGFB3	P10600	p.Leu368Ter	RCV000617331	frameshift	-	NC_000014.9:g.75959321_75959324del	ClinVar
TGFB3	P10600	p.Pro370Ala	rs1555360046	missense variant	-	NC_000014.9:g.75959318G>C	-
TGFB3	P10600	p.Pro370Ala	RCV000617733	missense variant	-	NC_000014.9:g.75959318G>C	ClinVar
TGFB3	P10600	p.Ser373Phe	rs768701364	missense variant	-	NC_000014.9:g.75959308G>A	ExAC,gnomAD
TGFB3	P10600	p.Ser375Trp	rs780254258	missense variant	-	NC_000014.9:g.75959302G>C	ExAC,gnomAD
TGFB3	P10600	p.Ser375Leu	rs780254258	missense variant	-	NC_000014.9:g.75959302G>A	ExAC,gnomAD
TGFB3	P10600	p.Pro376Leu	rs1446755738	missense variant	-	NC_000014.9:g.75959299G>A	TOPMed
TGFB3	P10600	p.Cys377Tyr	rs1060502828	missense variant	-	NC_000014.9:g.75959296C>T	-
TGFB3	P10600	p.Cys377Tyr	RCV000460341	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75959296C>T	ClinVar
TGFB3	P10600	p.Cys378Gly	rs1271001524	missense variant	-	NC_000014.9:g.75959294A>C	gnomAD
TGFB3	P10600	p.Val379Met	rs757031677	missense variant	-	NC_000014.9:g.75959291C>T	ExAC,TOPMed,gnomAD
TGFB3	P10600	p.Pro380Ser	rs1555360033	missense variant	-	NC_000014.9:g.75959288G>A	-
TGFB3	P10600	p.Pro380Ser	RCV000620927	missense variant	-	NC_000014.9:g.75959288G>A	ClinVar
TGFB3	P10600	p.Gln381His	rs893375581	missense variant	-	NC_000014.9:g.75959283C>A	TOPMed
TGFB3	P10600	p.Gln381His	RCV000498453	missense variant	-	NC_000014.9:g.75959283C>A	ClinVar
TGFB3	P10600	p.Glu384Gly	RCV000550507	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75959275T>C	ClinVar
TGFB3	P10600	p.Glu384Gly	rs777902992	missense variant	-	NC_000014.9:g.75959275T>C	ExAC,gnomAD
TGFB3	P10600	p.Glu384Lys	rs1304975316	missense variant	-	NC_000014.9:g.75959276C>T	gnomAD
TGFB3	P10600	p.Thr387Ala	rs533250628	missense variant	-	NC_000014.9:g.75959267T>C	1000Genomes,ExAC,gnomAD
TGFB3	P10600	p.Tyr390Phe	rs996297395	missense variant	-	NC_000014.9:g.75959257T>A	TOPMed,gnomAD
TGFB3	P10600	p.Tyr390Phe	RCV000520235	missense variant	-	NC_000014.9:g.75959257T>A	ClinVar
TGFB3	P10600	p.Val392Ala	rs759168311	missense variant	-	NC_000014.9:g.75959251A>G	ExAC,gnomAD
TGFB3	P10600	p.Thr395Pro	RCV000702478	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75959243T>G	ClinVar
TGFB3	P10600	p.Thr395Asn	rs1284626226	missense variant	-	NC_000014.9:g.75959242G>T	TOPMed
TGFB3	P10600	p.Pro396Ser	RCV000539505	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000014.9:g.75959240G>A	ClinVar
TGFB3	P10600	p.Pro396Ser	rs899613458	missense variant	-	NC_000014.9:g.75959240G>A	TOPMed
TGFB3	P10600	p.Glu399Ter	RCV000522931	nonsense	-	NC_000014.9:g.75959231C>A	ClinVar
TGFB3	P10600	p.Glu399Ter	rs1555360027	stop gained	-	NC_000014.9:g.75959231C>A	-
TGFB3	P10600	p.Val405Ala	rs774909501	missense variant	-	NC_000014.9:g.75959212A>G	ExAC,gnomAD
TGFB3	P10600	p.Lys407Glu	rs1248127840	missense variant	-	NC_000014.9:g.75959207T>C	gnomAD
TGFB3	P10600	p.Cys409Tyr	rs398122984	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75959200C>T	UniProt,dbSNP
TGFB3	P10600	p.Cys409Tyr	VAR_070924	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75959200C>T	UniProt
TGFB3	P10600	p.Cys409Tyr	rs398122984	missense variant	-	NC_000014.9:g.75959200C>T	-
TGFB3	P10600	p.Cys409Tyr	RCV000077765	missense variant	Loeys-Dietz syndrome 5 (LDS5)	NC_000014.9:g.75959200C>T	ClinVar
TGFB3	P10600	p.Ter413Arg	rs1177558814	stop lost	-	NC_000014.9:g.75959189A>T	gnomAD
HSPA5	P11021	p.Lys2Met	rs373628096	missense variant	-	NC_000009.12:g.125241122T>A	ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Lys2Gln	rs918826597	missense variant	-	NC_000009.12:g.125241123T>G	TOPMed
HSPA5	P11021	p.Ser4Phe	rs774479903	missense variant	-	NC_000009.12:g.125241116G>A	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Leu5Val	rs1235678444	missense variant	-	NC_000009.12:g.125241114G>C	TOPMed
HSPA5	P11021	p.Leu5Pro	rs1279993952	missense variant	-	NC_000009.12:g.125241113A>G	TOPMed
HSPA5	P11021	p.Leu10Pro	rs1168692147	missense variant	-	NC_000009.12:g.125241098A>G	gnomAD
HSPA5	P11021	p.Leu13Pro	rs1452694680	missense variant	-	NC_000009.12:g.125241089A>G	gnomAD
HSPA5	P11021	p.Ser14Arg	rs781032276	missense variant	-	NC_000009.12:g.125241085G>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Ala15Val	rs1179512258	missense variant	-	NC_000009.12:g.125241083G>A	gnomAD
HSPA5	P11021	p.Ala16Val	rs756929764	missense variant	-	NC_000009.12:g.125241080G>A	ExAC,gnomAD
HSPA5	P11021	p.Arg17Gln	rs1202257346	missense variant	-	NC_000009.12:g.125241077C>T	gnomAD
HSPA5	P11021	p.Glu21Lys	rs980600790	missense variant	-	NC_000009.12:g.125241066C>T	TOPMed
HSPA5	P11021	p.Asp22Asn	rs758001741	missense variant	-	NC_000009.12:g.125241063C>T	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Asp22Gly	rs752211105	missense variant	-	NC_000009.12:g.125241062T>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Lys23Glu	rs766831759	missense variant	-	NC_000009.12:g.125241060T>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Lys24Glu	rs1223996848	missense variant	-	NC_000009.12:g.125241057T>C	TOPMed,gnomAD
HSPA5	P11021	p.Asp26Glu	rs1442272847	missense variant	-	NC_000009.12:g.125241049G>T	TOPMed
HSPA5	P11021	p.Asp26Asn	rs61999288	missense variant	-	NC_000009.12:g.125241051C>T	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Val27Met	rs750811646	missense variant	-	NC_000009.12:g.125241048C>T	ExAC,gnomAD
HSPA5	P11021	p.Gly28Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125241044C>A	NCI-TCGA
HSPA5	P11021	p.Gly28Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125241045C>T	NCI-TCGA
HSPA5	P11021	p.Thr29Met	rs1394566736	missense variant	-	NC_000009.12:g.125241041G>A	gnomAD
HSPA5	P11021	p.Leu35Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125241024G>T	NCI-TCGA
HSPA5	P11021	p.Gly36Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125241021C>T	NCI-TCGA
HSPA5	P11021	p.Phe45Leu	rs1231899934	missense variant	-	NC_000009.12:g.125240895G>C	gnomAD
HSPA5	P11021	p.Lys46Ter	rs1355193954	stop gained	-	NC_000009.12:g.125240894T>A	gnomAD
HSPA5	P11021	p.Val50Met	rs1237147765	missense variant	-	NC_000009.12:g.125240882C>T	TOPMed
HSPA5	P11021	p.Glu51Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.125240879C>A	NCI-TCGA
HSPA5	P11021	p.Ile52Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125240875A>G	NCI-TCGA
HSPA5	P11021	p.Pro63Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125240842G>T	NCI-TCGA
HSPA5	P11021	p.Tyr65Cys	rs377512653	missense variant	-	NC_000009.12:g.125240836T>C	ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Tyr65Phe	rs377512653	missense variant	-	NC_000009.12:g.125240836T>A	ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Tyr65CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.125240835_125240836AT>-	NCI-TCGA
HSPA5	P11021	p.Val66Ile	rs759479785	missense variant	-	NC_000009.12:g.125240834C>T	ExAC,TOPMed
HSPA5	P11021	p.Pro70Thr	COSM4929070	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125240822G>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Pro70Ser	rs200897884	missense variant	-	NC_000009.12:g.125240822G>A	1000Genomes,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Pro70Leu	rs746836983	missense variant	-	NC_000009.12:g.125240821G>A	ExAC,gnomAD
HSPA5	P11021	p.Glu71Lys	COSM3847651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125240819C>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Glu73Gly	rs777686093	missense variant	-	NC_000009.12:g.125240812T>C	ExAC,gnomAD
HSPA5	P11021	p.Asp78GluPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000009.12:g.125240796_125240797insGGTGTCAGGCGATTCTGGTCATTGGTGAT	NCI-TCGA
HSPA5	P11021	p.Glu89Lys	rs373292645	missense variant	-	NC_000009.12:g.125240765C>T	ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Glu89Asp	rs754529165	missense variant	-	NC_000009.12:g.125240763C>A	ExAC,gnomAD
HSPA5	P11021	p.Asn90Lys	rs1187454921	missense variant	-	NC_000009.12:g.125240760G>T	gnomAD
HSPA5	P11021	p.Val92Ile	COSM1105158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125240756C>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Arg97Trp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125240741G>A	NCI-TCGA
HSPA5	P11021	p.Thr102Met	rs757741308	missense variant	-	NC_000009.12:g.125240725G>A	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Ser107Ala	rs764437821	missense variant	-	NC_000009.12:g.125240711A>C	ExAC,gnomAD
HSPA5	P11021	p.Gln110Glu	rs758699653	missense variant	-	NC_000009.12:g.125240702G>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Ile112Val	rs201412581	missense variant	-	NC_000009.12:g.125240696T>C	1000Genomes
HSPA5	P11021	p.Lys113Asn	rs1373246412	missense variant	-	NC_000009.12:g.125240691C>A	gnomAD
HSPA5	P11021	p.Pro116Gln	rs752980725	missense variant	-	NC_000009.12:g.125240683G>T	ExAC,gnomAD
HSPA5	P11021	p.Val119Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125240308A>G	NCI-TCGA
HSPA5	P11021	p.Val120Ala	rs778199015	missense variant	-	NC_000009.12:g.125240305A>G	ExAC,gnomAD
HSPA5	P11021	p.Lys122Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125240298C>A	NCI-TCGA
HSPA5	P11021	p.Lys122Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125240298C>G	NCI-TCGA
HSPA5	P11021	p.Ile132Thr	rs191087735	missense variant	-	NC_000009.12:g.125240269A>G	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Gly133Arg	rs1364066030	missense variant	-	NC_000009.12:g.125240267C>T	gnomAD
HSPA5	P11021	p.Gly135Arg	rs1183495817	missense variant	-	NC_000009.12:g.125240261C>T	gnomAD
HSPA5	P11021	p.Gln136His	rs1417734683	missense variant	-	NC_000009.12:g.125240256T>A	gnomAD
HSPA5	P11021	p.Thr137Ile	rs765533290	missense variant	-	NC_000009.12:g.125240254G>A	ExAC,TOPMed
HSPA5	P11021	p.Lys138Asn	COSM3847649	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125240250C>A	NCI-TCGA Cosmic
HSPA5	P11021	p.Thr139Lys	rs755130497	missense variant	-	NC_000009.12:g.125240248G>T	ExAC,gnomAD
HSPA5	P11021	p.Thr139Ile	rs755130497	missense variant	-	NC_000009.12:g.125240248G>A	ExAC,gnomAD
HSPA5	P11021	p.Pro142Ser	rs1212235788	missense variant	-	NC_000009.12:g.125240240G>A	gnomAD
HSPA5	P11021	p.Glu144Gln	rs1373860864	missense variant	-	NC_000009.12:g.125240234C>G	TOPMed
HSPA5	P11021	p.Met148Val	rs1278798103	missense variant	-	NC_000009.12:g.125240222T>C	TOPMed,gnomAD
HSPA5	P11021	p.Thr151Asn	rs1199995948	missense variant	-	NC_000009.12:g.125240212G>T	gnomAD
HSPA5	P11021	p.Met153Ile	rs1351458297	missense variant	-	NC_000009.12:g.125240205C>G	gnomAD
HSPA5	P11021	p.Glu155Lys	rs766559685	missense variant	-	NC_000009.12:g.125240201C>T	ExAC
HSPA5	P11021	p.Glu155Asp	rs760769294	missense variant	-	NC_000009.12:g.125240199T>G	ExAC,gnomAD
HSPA5	P11021	p.Glu158Lys	COSM3654336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125240192C>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Gly162Arg	rs1287411884	missense variant	-	NC_000009.12:g.125240180C>T	gnomAD
HSPA5	P11021	p.His167Pro	rs1475987193	missense variant	-	NC_000009.12:g.125239526T>G	gnomAD
HSPA5	P11021	p.Ala174Thr	COSM1105157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125239506C>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Ala187Ser	rs769398663	missense variant	-	NC_000009.12:g.125239467C>A	ExAC,gnomAD
HSPA5	P11021	p.Gly188Arg	rs1340057768	missense variant	-	NC_000009.12:g.125239464C>T	gnomAD
HSPA5	P11021	p.Thr189Pro	COSM1105156	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125239461T>G	NCI-TCGA Cosmic
HSPA5	P11021	p.Thr189Asn	rs759090127	missense variant	-	NC_000009.12:g.125239460G>T	ExAC,gnomAD
HSPA5	P11021	p.Thr189Ile	rs759090127	missense variant	-	NC_000009.12:g.125239460G>A	ExAC,gnomAD
HSPA5	P11021	p.Ala191Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125239455C>T	NCI-TCGA
HSPA5	P11021	p.Gly192Ser	rs1389938825	missense variant	-	NC_000009.12:g.125239452C>T	TOPMed
HSPA5	P11021	p.Val195Ile	rs1225600593	missense variant	-	NC_000009.12:g.125239443C>T	gnomAD
HSPA5	P11021	p.Met196Thr	rs1229759275	missense variant	-	NC_000009.12:g.125239439A>G	gnomAD
HSPA5	P11021	p.Arg197Met	rs776093278	missense variant	-	NC_000009.12:g.125239436C>A	ExAC
HSPA5	P11021	p.Ile198Thr	rs748594236	missense variant	-	NC_000009.12:g.125239433A>G	ExAC
HSPA5	P11021	p.Ile198Met	rs1175929824	missense variant	-	NC_000009.12:g.125239432G>C	TOPMed
HSPA5	P11021	p.Asn200Lys	rs749620773	missense variant	-	NC_000009.12:g.125239426G>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Asn200Ser	rs779406868	missense variant	-	NC_000009.12:g.125239427T>C	ExAC,gnomAD
HSPA5	P11021	p.Pro202Leu	rs1465755612	missense variant	-	NC_000009.12:g.125239421G>A	TOPMed
HSPA5	P11021	p.Gly210Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125239308C>T	NCI-TCGA
HSPA5	P11021	p.Leu211Met	COSM3904076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125239306G>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Glu215Asp	rs777435502	missense variant	-	NC_000009.12:g.125239292C>A	ExAC,gnomAD
HSPA5	P11021	p.Glu217ArgPheSerTerUnkUnk	COSM5106644	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.125239288C>-	NCI-TCGA Cosmic
HSPA5	P11021	p.Glu217Asp	rs1443431270	missense variant	-	NC_000009.12:g.125239286C>A	gnomAD
HSPA5	P11021	p.Asn219Ser	rs1306743375	missense variant	-	NC_000009.12:g.125239281T>C	gnomAD
HSPA5	P11021	p.Phe223Val	COSM4929196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125239270A>C	NCI-TCGA Cosmic
HSPA5	P11021	p.Leu225Pro	rs1429609324	missense variant	-	NC_000009.12:g.125239263A>G	gnomAD
HSPA5	P11021	p.Asp231Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125239246C>T	NCI-TCGA
HSPA5	P11021	p.Ile237Thr	rs746095580	missense variant	-	NC_000009.12:g.125239227A>G	ExAC,gnomAD
HSPA5	P11021	p.Asn239Ser	rs200482739	missense variant	-	NC_000009.12:g.125239221T>C	gnomAD
HSPA5	P11021	p.Gly240Asp	COSM1105155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125239218C>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Asn248Ser	rs189604329	missense variant	-	NC_000009.12:g.125239194T>C	1000Genomes
HSPA5	P11021	p.Arg261His	rs752543561	missense variant	-	NC_000009.12:g.125239155C>T	ExAC,gnomAD
HSPA5	P11021	p.Arg261Cys	rs185877709	missense variant	-	NC_000009.12:g.125239156G>A	1000Genomes,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Ile267Leu	rs765009153	missense variant	-	NC_000009.12:g.125239138T>G	ExAC,gnomAD
HSPA5	P11021	p.Thr274Met	rs753498680	missense variant	-	NC_000009.12:g.125239116G>A	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Gly275Cys	rs1217112485	missense variant	-	NC_000009.12:g.125239114C>A	TOPMed
HSPA5	P11021	p.Asp277Ala	rs1358602635	missense variant	-	NC_000009.12:g.125239107T>G	gnomAD
HSPA5	P11021	p.Asp277Tyr	rs927584824	missense variant	-	NC_000009.12:g.125239108C>A	gnomAD
HSPA5	P11021	p.Arg283Lys	rs1410032554	missense variant	-	NC_000009.12:g.125239089C>T	TOPMed,gnomAD
HSPA5	P11021	p.Ala284Thr	rs1415653914	missense variant	-	NC_000009.12:g.125239087C>T	gnomAD
HSPA5	P11021	p.Val285Ala	rs201219378	missense variant	-	NC_000009.12:g.125239083A>G	1000Genomes
HSPA5	P11021	p.Leu288Val	COSM487041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125239075G>C	NCI-TCGA Cosmic
HSPA5	P11021	p.Arg289Trp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125239072G>A	NCI-TCGA
HSPA5	P11021	p.Arg290His	rs1183483292	missense variant	-	NC_000009.12:g.125239068C>T	TOPMed,gnomAD
HSPA5	P11021	p.Arg290Cys	rs1258181789	missense variant	-	NC_000009.12:g.125239069G>A	gnomAD
HSPA5	P11021	p.Glu291Lys	rs772745555	missense variant	-	NC_000009.12:g.125239066C>T	ExAC,gnomAD
HSPA5	P11021	p.Glu291Gln	rs772745555	missense variant	-	NC_000009.12:g.125239066C>G	ExAC,gnomAD
HSPA5	P11021	p.Ala295ProPheSerTerUnkUnk	COSM5231001	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.125239054C>-	NCI-TCGA Cosmic
HSPA5	P11021	p.Lys296Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125239050T>G	NCI-TCGA
HSPA5	P11021	p.Arg297Trp	rs764555947	missense variant	-	NC_000009.12:g.125239048G>A	ExAC,gnomAD
HSPA5	P11021	p.Gln302Leu	rs1179967296	missense variant	-	NC_000009.12:g.125239032T>A	gnomAD
HSPA5	P11021	p.Ala305Val	rs763551125	missense variant	-	NC_000009.12:g.125239023G>A	ExAC,gnomAD
HSPA5	P11021	p.Ile309Thr	rs776075958	missense variant	-	NC_000009.12:g.125239011A>G	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Phe312Ser	COSM752720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125239002A>G	NCI-TCGA Cosmic
HSPA5	P11021	p.Tyr313Cys	rs545601947	missense variant	-	NC_000009.12:g.125238999T>C	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Tyr313Phe	rs545601947	missense variant	-	NC_000009.12:g.125238999T>A	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Glu316Gly	rs1394745428	missense variant	-	NC_000009.12:g.125238990T>C	gnomAD
HSPA5	P11021	p.Asp317Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238988C>A	NCI-TCGA
HSPA5	P11021	p.Phe318Val	rs746186875	missense variant	-	NC_000009.12:g.125238985A>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Ser319Thr	rs776753213	missense variant	-	NC_000009.12:g.125238982A>T	ExAC,gnomAD
HSPA5	P11021	p.Thr321Ile	rs1432966367	missense variant	-	NC_000009.12:g.125238975G>A	gnomAD
HSPA5	P11021	p.Arg324Gln	rs762582529	missense variant	-	NC_000009.12:g.125238966C>T	-
HSPA5	P11021	p.Lys326Arg	rs747110106	missense variant	-	NC_000009.12:g.125238960T>C	ExAC,gnomAD
HSPA5	P11021	p.Glu329Asp	rs947809704	missense variant	-	NC_000009.12:g.125238950C>G	TOPMed
HSPA5	P11021	p.Glu329Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238952C>G	NCI-TCGA
HSPA5	P11021	p.Met332Ile	rs772811684	missense variant	-	NC_000009.12:g.125238941C>T	ExAC,gnomAD
HSPA5	P11021	p.Met332Ile	rs772811684	missense variant	-	NC_000009.12:g.125238941C>G	ExAC,gnomAD
HSPA5	P11021	p.Met332Val	rs150434402	missense variant	-	NC_000009.12:g.125238943T>C	ESP,ExAC,TOPMed
HSPA5	P11021	p.Asp333Ala	rs1454496285	missense variant	-	NC_000009.12:g.125238826T>G	gnomAD
HSPA5	P11021	p.Arg336Gln	rs1252434461	missense variant	-	NC_000009.12:g.125238817C>T	gnomAD
HSPA5	P11021	p.Arg336Trp	rs1488339886	missense variant	-	NC_000009.12:g.125238818G>A	TOPMed,gnomAD
HSPA5	P11021	p.Thr338Ala	rs768548100	missense variant	-	NC_000009.12:g.125238812T>C	ExAC,gnomAD
HSPA5	P11021	p.Met339Val	rs1370988503	missense variant	-	NC_000009.12:g.125238809T>C	TOPMed
HSPA5	P11021	p.Lys340Arg	rs779884716	missense variant	-	NC_000009.12:g.125238805T>C	ExAC,gnomAD
HSPA5	P11021	p.Lys340Thr	rs779884716	missense variant	-	NC_000009.12:g.125238805T>G	ExAC,gnomAD
HSPA5	P11021	p.Val342Ile	rs750103794	missense variant	-	NC_000009.12:g.125238800C>T	ExAC,gnomAD
HSPA5	P11021	p.Gln343His	COSM74952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125238795C>A	NCI-TCGA Cosmic
HSPA5	P11021	p.Gln343His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238795C>G	NCI-TCGA
HSPA5	P11021	p.Glu347Lys	rs1386517735	missense variant	-	NC_000009.12:g.125238785C>T	gnomAD
HSPA5	P11021	p.Asp350Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238775T>G	NCI-TCGA
HSPA5	P11021	p.Lys352Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238768C>A	NCI-TCGA
HSPA5	P11021	p.Ser354Phe	rs1368629912	missense variant	-	NC_000009.12:g.125238763G>A	gnomAD
HSPA5	P11021	p.Asp355Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238761C>T	NCI-TCGA
HSPA5	P11021	p.Asp357Asn	rs760079687	missense variant	-	NC_000009.12:g.125238755C>T	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Leu361His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238742A>T	NCI-TCGA
HSPA5	P11021	p.Leu361Ile	rs1343403693	missense variant	-	NC_000009.12:g.125238743G>T	TOPMed
HSPA5	P11021	p.Pro369Ser	rs1188284635	missense variant	-	NC_000009.12:g.125238719G>A	TOPMed
HSPA5	P11021	p.Lys370Glu	rs766767689	missense variant	-	NC_000009.12:g.125238716T>C	ExAC,gnomAD
HSPA5	P11021	p.Gln372Glu	rs1351604160	missense variant	-	NC_000009.12:g.125238710G>C	gnomAD
HSPA5	P11021	p.Glu377Gln	rs1482398176	missense variant	-	NC_000009.12:g.125238695C>G	gnomAD
HSPA5	P11021	p.Glu377Gly	rs772238271	missense variant	-	NC_000009.12:g.125238694T>C	ExAC,gnomAD
HSPA5	P11021	p.Glu377Val	rs772238271	missense variant	-	NC_000009.12:g.125238694T>A	ExAC,gnomAD
HSPA5	P11021	p.Asn380Lys	COSM752722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125238684A>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Asn380Ser	rs761919160	missense variant	-	NC_000009.12:g.125238685T>C	ExAC,gnomAD
HSPA5	P11021	p.Lys382Arg	rs200135468	missense variant	-	NC_000009.12:g.125238679T>C	1000Genomes
HSPA5	P11021	p.Ser385Cys	COSM6182296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125238670G>C	NCI-TCGA Cosmic
HSPA5	P11021	p.Arg386His	rs774390329	missense variant	-	NC_000009.12:g.125238667C>T	ExAC,gnomAD
HSPA5	P11021	p.Gly387Asp	rs1330307450	missense variant	-	NC_000009.12:g.125238664C>T	gnomAD
HSPA5	P11021	p.Ile388Thr	rs768638015	missense variant	-	NC_000009.12:g.125238661A>G	ExAC,gnomAD
HSPA5	P11021	p.Ala393Thr	rs200526775	missense variant	-	NC_000009.12:g.125238647C>T	1000Genomes
HSPA5	P11021	p.Ala395Val	COSM3654335	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125238640G>A	NCI-TCGA Cosmic
HSPA5	P11021	p.Gly397Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238635C>T	NCI-TCGA
HSPA5	P11021	p.Asp408Asn	rs751174810	missense variant	-	NC_000009.12:g.125238602C>T	ExAC,gnomAD
HSPA5	P11021	p.Asp410Tyr	COSM1105154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125238596C>A	NCI-TCGA Cosmic
HSPA5	P11021	p.Asp413Glu	rs568812325	missense variant	-	NC_000009.12:g.125238304G>T	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Leu417Phe	COSM6114666	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125238294G>A	NCI-TCGA Cosmic
HSPA5	P11021	p.Val419Ile	rs757549614	missense variant	-	NC_000009.12:g.125238288C>T	ExAC,gnomAD
HSPA5	P11021	p.Leu422Val	rs1356972308	missense variant	-	NC_000009.12:g.125238279G>C	TOPMed
HSPA5	P11021	p.Ile426Phe	COSM71109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125238267T>A	NCI-TCGA Cosmic
HSPA5	P11021	p.Ile426Val	rs1282333876	missense variant	-	NC_000009.12:g.125238267T>C	gnomAD
HSPA5	P11021	p.Val432Ile	rs1265027435	missense variant	-	NC_000009.12:g.125238249C>T	TOPMed
HSPA5	P11021	p.Met433Val	rs1267765504	missense variant	-	NC_000009.12:g.125238246T>C	gnomAD
HSPA5	P11021	p.Lys435Arg	rs751803191	missense variant	-	NC_000009.12:g.125238239T>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Pro438Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238230G>T	NCI-TCGA
HSPA5	P11021	p.Pro438Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238230G>A	NCI-TCGA
HSPA5	P11021	p.Pro438Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238231G>A	NCI-TCGA
HSPA5	P11021	p.Val443Met	rs763135186	missense variant	-	NC_000009.12:g.125238216C>T	ExAC,gnomAD
HSPA5	P11021	p.Thr445Ser	rs1324691272	missense variant	-	NC_000009.12:g.125238210T>A	gnomAD
HSPA5	P11021	p.Lys446Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238205C>A	NCI-TCGA
HSPA5	P11021	p.Gln449His	rs775411427	missense variant	-	NC_000009.12:g.125238196C>A	ExAC,gnomAD
HSPA5	P11021	p.Asn457Lys	COSM3654334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125238172A>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Asn457Tyr	rs535209940	missense variant	-	NC_000009.12:g.125238174T>A	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Pro459Ser	rs1253850727	missense variant	-	NC_000009.12:g.125238168G>A	gnomAD
HSPA5	P11021	p.Val461Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125238161A>G	NCI-TCGA
HSPA5	P11021	p.Ile463Asn	rs772946608	missense variant	-	NC_000009.12:g.125238155A>T	ExAC,gnomAD
HSPA5	P11021	p.Ile463Val	rs200465691	missense variant	-	NC_000009.12:g.125238156T>C	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Pro471Thr	rs761365893	missense variant	-	NC_000009.12:g.125237146G>T	ExAC,gnomAD
HSPA5	P11021	p.Lys474Arg	rs1472776693	missense variant	-	NC_000009.12:g.125237136T>C	gnomAD
HSPA5	P11021	p.His477Asn	rs936657160	missense variant	-	NC_000009.12:g.125237128G>T	TOPMed
HSPA5	P11021	p.Leu478Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125237124A>G	NCI-TCGA
HSPA5	P11021	p.Thr481Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125237116T>C	NCI-TCGA
HSPA5	P11021	p.Asp483Gly	rs1253923916	missense variant	-	NC_000009.12:g.125237109T>C	gnomAD
HSPA5	P11021	p.Thr485Ala	rs773987528	missense variant	-	NC_000009.12:g.125237104T>C	ExAC,gnomAD
HSPA5	P11021	p.Ile487Val	rs1308682564	missense variant	-	NC_000009.12:g.125237098T>C	TOPMed
HSPA5	P11021	p.Pro491Leu	rs1007136118	missense variant	-	NC_000009.12:g.125237085G>A	TOPMed
HSPA5	P11021	p.Val494Ala	rs925239059	missense variant	-	NC_000009.12:g.125237076A>G	TOPMed
HSPA5	P11021	p.Gln496His	rs1211616268	missense variant	-	NC_000009.12:g.125237069C>G	gnomAD
HSPA5	P11021	p.Gln496His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125237069C>A	NCI-TCGA
HSPA5	P11021	p.Glu502Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125237053C>G	NCI-TCGA
HSPA5	P11021	p.Asp504Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125237047C>A	NCI-TCGA
HSPA5	P11021	p.Gly507Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125237037C>T	NCI-TCGA
HSPA5	P11021	p.Arg510Gln	rs1032511460	missense variant	-	NC_000009.12:g.125237028C>T	gnomAD
HSPA5	P11021	p.Glu514Gln	COSM3847648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125237017C>G	NCI-TCGA Cosmic
HSPA5	P11021	p.Asp515His	COSM1314449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125237014C>G	NCI-TCGA Cosmic
HSPA5	P11021	p.Asn522IlePheSerTerUnkUnk	COSM5161920	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.125236992T>-	NCI-TCGA Cosmic
HSPA5	P11021	p.Lys523Arg	rs533357661	missense variant	-	NC_000009.12:g.125236989T>C	1000Genomes
HSPA5	P11021	p.Ile526Val	rs1445882658	missense variant	-	NC_000009.12:g.125236981T>C	gnomAD
HSPA5	P11021	p.Asn528Ser	rs1321415640	missense variant	-	NC_000009.12:g.125236974T>C	gnomAD
HSPA5	P11021	p.Asn528Asp	rs747433993	missense variant	-	NC_000009.12:g.125236975T>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Asp529Ala	rs758725284	missense variant	-	NC_000009.12:g.125236971T>G	ExAC,gnomAD
HSPA5	P11021	p.Asp529Asn	rs777998455	missense variant	-	NC_000009.12:g.125236972C>T	ExAC,gnomAD
HSPA5	P11021	p.Asn531Thr	rs779151361	missense variant	-	NC_000009.12:g.125236965T>G	ExAC,gnomAD
HSPA5	P11021	p.Arg532Cys	rs755135095	missense variant	-	NC_000009.12:g.125236963G>A	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Arg532His	rs368840257	missense variant	-	NC_000009.12:g.125236962C>T	ESP,TOPMed,gnomAD
HSPA5	P11021	p.Arg532Leu	rs368840257	missense variant	-	NC_000009.12:g.125236962C>A	ESP,TOPMed,gnomAD
HSPA5	P11021	p.Pro535Leu	rs753935146	missense variant	-	NC_000009.12:g.125236953G>A	ExAC,gnomAD
HSPA5	P11021	p.Glu536Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236951C>T	NCI-TCGA
HSPA5	P11021	p.Glu537Ter	COSM3432860	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.125236948C>A	NCI-TCGA Cosmic
HSPA5	P11021	p.Arg540Ser	rs191957514	missense variant	-	NC_000009.12:g.125236937C>G	1000Genomes,TOPMed,gnomAD
HSPA5	P11021	p.Asn543Asp	rs35356639	missense variant	-	NC_000009.12:g.125236930T>C	TOPMed,gnomAD
HSPA5	P11021	p.Asn543His	rs35356639	missense variant	-	NC_000009.12:g.125236930T>G	TOPMed,gnomAD
HSPA5	P11021	p.Asp544Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236927C>A	NCI-TCGA
HSPA5	P11021	p.Glu546Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236921C>T	NCI-TCGA
HSPA5	P11021	p.Glu551Ter	rs750297913	stop gained	-	NC_000009.12:g.125236906C>A	ExAC,gnomAD
HSPA5	P11021	p.Glu557Gly	rs56136100	missense variant	-	NC_000009.12:g.125236887T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Arg558Leu	rs771497933	missense variant	-	NC_000009.12:g.125236884C>A	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Arg558Cys	rs762500054	missense variant	-	NC_000009.12:g.125236885G>A	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Arg558His	rs771497933	missense variant	-	NC_000009.12:g.125236884C>T	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Ile559Thr	rs1189961861	missense variant	-	NC_000009.12:g.125236881A>G	TOPMed,gnomAD
HSPA5	P11021	p.Asp560His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236879C>G	NCI-TCGA
HSPA5	P11021	p.Thr561Asn	rs144050975	missense variant	-	NC_000009.12:g.125236875G>T	ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Thr561Ile	rs144050975	missense variant	-	NC_000009.12:g.125236875G>A	ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Thr561Ala	rs1421568498	missense variant	-	NC_000009.12:g.125236876T>C	gnomAD
HSPA5	P11021	p.Glu564Lys	rs1188810256	missense variant	-	NC_000009.12:g.125236867C>T	gnomAD
HSPA5	P11021	p.Glu564Asp	rs541632037	missense variant	-	NC_000009.12:g.125236865C>A	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Tyr568Asp	rs1334409215	missense variant	-	NC_000009.12:g.125236855A>C	TOPMed
HSPA5	P11021	p.Ser571Tyr	COSM5145736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125236845G>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Lys573Asn	COSM1105152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125236838C>A	NCI-TCGA Cosmic
HSPA5	P11021	p.Ile576Phe	rs1294335824	missense variant	-	NC_000009.12:g.125236831T>A	TOPMed
HSPA5	P11021	p.Glu580Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236819C>T	NCI-TCGA
HSPA5	P11021	p.Leu582Gln	rs755226649	missense variant	-	NC_000009.12:g.125236812A>T	ExAC,gnomAD
HSPA5	P11021	p.Ser587Thr	rs1321198633	missense variant	-	NC_000009.12:g.125236798A>T	gnomAD
HSPA5	P11021	p.Glu589Lys	rs572560070	missense variant	-	NC_000009.12:g.125236792C>T	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Lys591Gln	rs1363355640	missense variant	-	NC_000009.12:g.125236786T>G	TOPMed,gnomAD
HSPA5	P11021	p.Lys596Glu	rs552650805	missense variant	-	NC_000009.12:g.125236771T>C	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Val598Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236765C>T	NCI-TCGA
HSPA5	P11021	p.Glu600Gly	rs756195128	missense variant	-	NC_000009.12:g.125236758T>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Lys601Met	rs143920039	missense variant	-	NC_000009.12:g.125236755T>A	1000Genomes,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Lys601Thr	rs143920039	missense variant	-	NC_000009.12:g.125236755T>G	1000Genomes,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Ile602Thr	rs767440147	missense variant	-	NC_000009.12:g.125236752A>G	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Trp604Ter	rs898175617	stop gained	-	NC_000009.12:g.125236745C>T	TOPMed
HSPA5	P11021	p.Leu605Val	rs375391643	missense variant	-	NC_000009.12:g.125236744G>C	ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Asp610Glu	rs1005567551	missense variant	-	NC_000009.12:g.125236727A>T	TOPMed
HSPA5	P11021	p.Asp610Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236729C>T	NCI-TCGA
HSPA5	P11021	p.Ile613Val	rs1191963130	missense variant	-	NC_000009.12:g.125236720T>C	TOPMed,gnomAD
HSPA5	P11021	p.Glu614Asp	COSM1330732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125236715T>A	NCI-TCGA Cosmic
HSPA5	P11021	p.Glu614Lys	rs570413832	missense variant	-	NC_000009.12:g.125236717C>T	1000Genomes,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Asp615Val	rs368193721	missense variant	-	NC_000009.12:g.125236713T>A	ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Phe616Leu	COSM1460009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125236711A>G	NCI-TCGA Cosmic
HSPA5	P11021	p.Phe616Leu	rs775060069	missense variant	-	NC_000009.12:g.125236709G>C	ExAC,gnomAD
HSPA5	P11021	p.Ala618Thr	rs374062060	missense variant	-	NC_000009.12:g.125236705C>T	ESP,ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Ala618Asp	rs1275953631	missense variant	-	NC_000009.12:g.125236704G>T	gnomAD
HSPA5	P11021	p.Lys619Glu	rs139238747	missense variant	-	NC_000009.12:g.125236702T>C	ESP,TOPMed,gnomAD
HSPA5	P11021	p.Lys621Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236694C>A	NCI-TCGA
HSPA5	P11021	p.Lys621Glu	rs773627521	missense variant	-	NC_000009.12:g.125236696T>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Glu622Lys	rs1167147446	missense variant	-	NC_000009.12:g.125236693C>T	-
HSPA5	P11021	p.Ile626Thr	rs1303224537	missense variant	-	NC_000009.12:g.125236680A>G	gnomAD
HSPA5	P11021	p.Val627Ile	COSM3926168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.125236678C>T	NCI-TCGA Cosmic
HSPA5	P11021	p.Val627Phe	rs1384841821	missense variant	-	NC_000009.12:g.125236678C>A	gnomAD
HSPA5	P11021	p.Pro629Ser	rs748506361	missense variant	-	NC_000009.12:g.125236672G>A	ExAC,gnomAD
HSPA5	P11021	p.Ser632Asn	rs1411145997	missense variant	-	NC_000009.12:g.125236662C>T	gnomAD
HSPA5	P11021	p.Leu634Arg	rs769064758	missense variant	-	NC_000009.12:g.125236656A>C	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Leu634Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236657G>T	NCI-TCGA
HSPA5	P11021	p.Gly636Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236650C>T	NCI-TCGA
HSPA5	P11021	p.Gly636Ala	rs1221171418	missense variant	-	NC_000009.12:g.125236650C>G	TOPMed
HSPA5	P11021	p.Ser637Asn	rs1378995475	missense variant	-	NC_000009.12:g.125236647C>T	gnomAD
HSPA5	P11021	p.Ala638Ser	rs756169862	missense variant	-	NC_000009.12:g.125236645C>A	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Ala638Thr	rs756169862	missense variant	-	NC_000009.12:g.125236645C>T	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Pro640Ala	rs538500528	missense variant	-	NC_000009.12:g.125236639G>C	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Pro640Thr	rs538500528	missense variant	-	NC_000009.12:g.125236639G>T	1000Genomes,ExAC,gnomAD
HSPA5	P11021	p.Pro641Ala	rs781041888	missense variant	-	NC_000009.12:g.125236636G>C	ExAC,gnomAD
HSPA5	P11021	p.Pro642Thr	rs757206987	missense variant	-	NC_000009.12:g.125236633G>T	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Pro642Gln	rs1249822667	missense variant	-	NC_000009.12:g.125236632G>T	gnomAD
HSPA5	P11021	p.Glu646Asp	rs752372052	missense variant	-	NC_000009.12:g.125236619C>A	ExAC,TOPMed,gnomAD
HSPA5	P11021	p.Glu646Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.125236621C>G	NCI-TCGA
HSPA5	P11021	p.Asp652Glu	rs764834058	missense variant	-	NC_000009.12:g.125236601A>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Asp2Gly	rs754150699	missense variant	-	NC_000008.11:g.18400008A>G	ExAC,gnomAD
NAT2	P11245	p.Ile3Val	rs200893121	missense variant	-	NC_000008.11:g.18400010A>G	1000Genomes
NAT2	P11245	p.Ile3Thr	rs186884477	missense variant	-	NC_000008.11:g.18400011T>C	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ile3Asn	rs186884477	missense variant	-	NC_000008.11:g.18400011T>A	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Glu4Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400014A>T	NCI-TCGA
NAT2	P11245	p.Tyr6His	rs1435840670	missense variant	-	NC_000008.11:g.18400019T>C	gnomAD
NAT2	P11245	p.Phe7Tyr	COSM6112854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400023T>A	NCI-TCGA Cosmic
NAT2	P11245	p.Arg9Lys	COSM3646974	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400029G>A	NCI-TCGA Cosmic
NAT2	P11245	p.Arg9Ile	COSM1097664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400029G>T	NCI-TCGA Cosmic
NAT2	P11245	p.Ile10Asn	rs72466456	missense variant	-	NC_000008.11:g.18400032T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ile10Thr	rs72466456	missense variant	-	NC_000008.11:g.18400032T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ile10Ser	rs72466456	missense variant	-	NC_000008.11:g.18400032T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly11Val	rs747536177	missense variant	-	NC_000008.11:g.18400035G>T	ExAC,gnomAD
NAT2	P11245	p.Tyr12Cys	rs755689546	missense variant	-	NC_000008.11:g.18400038A>G	ExAC,gnomAD
NAT2	P11245	p.Lys13Arg	rs1281741349	missense variant	-	NC_000008.11:g.18400041A>G	gnomAD
NAT2	P11245	p.Lys13Asn	rs777235619	missense variant	-	NC_000008.11:g.18400042G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Asn14His	rs770525419	missense variant	-	NC_000008.11:g.18400043A>C	ExAC
NAT2	P11245	p.Asn14Lys	rs774237368	missense variant	-	NC_000008.11:g.18400045C>G	ExAC,gnomAD
NAT2	P11245	p.Ser15Thr	rs1258543620	missense variant	-	NC_000008.11:g.18400046T>A	gnomAD
NAT2	P11245	p.Arg16Ser	rs745585836	missense variant	-	NC_000008.11:g.18400051G>T	ExAC,gnomAD
NAT2	P11245	p.Arg16Thr	rs928522570	missense variant	-	NC_000008.11:g.18400050G>C	TOPMed,gnomAD
NAT2	P11245	p.Asn17Lys	rs201339185	missense variant	-	NC_000008.11:g.18400054C>G	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Leu19Trp	rs1475615331	missense variant	-	NC_000008.11:g.18400059T>G	TOPMed
NAT2	P11245	p.Asp20Tyr	rs532310930	missense variant	-	NC_000008.11:g.18400061G>T	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Leu21Ter	rs760627448	stop gained	-	NC_000008.11:g.18400065T>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Leu21Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400066G>C	NCI-TCGA
NAT2	P11245	p.Thr23Ile	rs764315394	missense variant	-	NC_000008.11:g.18400071C>T	ExAC,gnomAD
NAT2	P11245	p.Thr23Pro	rs1464413878	missense variant	-	NC_000008.11:g.18400070A>C	TOPMed
NAT2	P11245	p.Leu24Ile	rs45477599	missense variant	-	NC_000008.11:g.18400073T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Leu24Ile	rs45477599	missense variant	-	NC_000008.11:g.18400073T>A	UniProt,dbSNP
NAT2	P11245	p.Leu24Ile	VAR_018853	missense variant	-	NC_000008.11:g.18400073T>A	UniProt
NAT2	P11245	p.Thr25Pro	rs1204993451	missense variant	-	NC_000008.11:g.18400076A>C	TOPMed
NAT2	P11245	p.Asp26Asn	rs1325562681	missense variant	-	NC_000008.11:g.18400079G>A	gnomAD
NAT2	P11245	p.Ile27Leu	rs765487420	missense variant	-	NC_000008.11:g.18400082A>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Leu28His	rs1275931651	missense variant	-	NC_000008.11:g.18400086T>A	gnomAD
NAT2	P11245	p.Glu29Asp	COSM750180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400090G>T	NCI-TCGA Cosmic
NAT2	P11245	p.Ile32Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400099C>G	NCI-TCGA
NAT2	P11245	p.Arg33Gln	rs138592670	missense variant	-	NC_000008.11:g.18400101G>A	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Arg33Trp	rs763283305	missense variant	-	NC_000008.11:g.18400100C>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Val35Ile	rs752047953	missense variant	-	NC_000008.11:g.18400106G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Val35Phe	rs752047953	missense variant	-	NC_000008.11:g.18400106G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Val35Ala	rs199780526	missense variant	-	NC_000008.11:g.18400107T>C	1000Genomes
NAT2	P11245	p.Val35Leu	rs752047953	missense variant	-	NC_000008.11:g.18400106G>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Pro36Ala	rs377338395	missense variant	-	NC_000008.11:g.18400109C>G	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Pro36Thr	rs377338395	missense variant	-	NC_000008.11:g.18400109C>A	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Phe37Ser	rs753310036	missense variant	-	NC_000008.11:g.18400113T>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Phe37Leu	rs1272204007	missense variant	-	NC_000008.11:g.18400112T>C	gnomAD
NAT2	P11245	p.Asn41Tyr	rs149283608	missense variant	-	NC_000008.11:g.18400124A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Met42Leu	rs886633825	missense variant	-	NC_000008.11:g.18400127A>T	TOPMed,gnomAD
NAT2	P11245	p.Met42Thr	rs1405525958	missense variant	-	NC_000008.11:g.18400128T>C	TOPMed
NAT2	P11245	p.His43Pro	rs1175197943	missense variant	-	NC_000008.11:g.18400131A>C	gnomAD
NAT2	P11245	p.Cys44Ser	rs1411878664	missense variant	-	NC_000008.11:g.18400134G>C	TOPMed
NAT2	P11245	p.Gly45Val	rs771801023	missense variant	-	NC_000008.11:g.18400137G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly45Glu	rs771801023	missense variant	-	NC_000008.11:g.18400137G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gln46His	rs779874333	missense variant	-	NC_000008.11:g.18400141A>T	ExAC,gnomAD
NAT2	P11245	p.Ala47Val	rs1463045225	missense variant	-	NC_000008.11:g.18400143C>T	gnomAD
NAT2	P11245	p.Ala47Asp	rs1463045225	missense variant	-	NC_000008.11:g.18400143C>A	gnomAD
NAT2	P11245	p.Met48Val	rs1165911161	missense variant	-	NC_000008.11:g.18400145A>G	TOPMed
NAT2	P11245	p.Glu49Lys	rs1189346481	missense variant	-	NC_000008.11:g.18400148G>A	TOPMed,gnomAD
NAT2	P11245	p.Leu50Met	rs111750824	missense variant	-	NC_000008.11:g.18400151T>A	gnomAD
NAT2	P11245	p.Gly51Val	rs72466457	missense variant	-	NC_000008.11:g.18400155G>T	TOPMed,gnomAD
NAT2	P11245	p.Leu52Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400159A>T	NCI-TCGA
NAT2	P11245	p.Glu53Gln	rs1473213000	missense variant	-	NC_000008.11:g.18400160G>C	TOPMed,gnomAD
NAT2	P11245	p.Ala54Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400164C>T	NCI-TCGA
NAT2	P11245	p.Ala54Thr	COSM1455898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400163G>A	NCI-TCGA Cosmic
NAT2	P11245	p.Asp57Tyr	rs78003756	missense variant	-	NC_000008.11:g.18400172G>T	-
NAT2	P11245	p.Asp57Gly	rs776854665	missense variant	-	NC_000008.11:g.18400173A>G	ExAC,gnomAD
NAT2	P11245	p.Ile59Thr	rs773371959	missense variant	-	NC_000008.11:g.18400179T>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ile59Asn	rs773371959	missense variant	-	NC_000008.11:g.18400179T>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ile59Phe	rs374728016	missense variant	-	NC_000008.11:g.18400178A>T	ESP,ExAC,gnomAD
NAT2	P11245	p.Asn63Ser	rs779910396	missense variant	-	NC_000008.11:g.18400191A>G	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Arg64Trp	rs1805158	missense variant	-	NC_000008.11:g.18400193C>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Arg64Gln	rs1801279	missense variant	-	NC_000008.11:g.18400194G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly65Asp	rs1019316375	missense variant	-	NC_000008.11:g.18400197G>A	TOPMed,gnomAD
NAT2	P11245	p.Gly65Val	rs1019316375	missense variant	-	NC_000008.11:g.18400197G>T	TOPMed,gnomAD
NAT2	P11245	p.Gly66Glu	COSM3646976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400200G>A	NCI-TCGA Cosmic
NAT2	P11245	p.Trp67Leu	rs756821699	missense variant	-	NC_000008.11:g.18400203G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Trp67Arg	rs201345576	missense variant	-	NC_000008.11:g.18400202T>C	1000Genomes,gnomAD
NAT2	P11245	p.Trp67Cys	rs1476310549	missense variant	-	NC_000008.11:g.18400204G>T	gnomAD
NAT2	P11245	p.Trp67Ter	rs1476310549	stop gained	-	NC_000008.11:g.18400204G>A	gnomAD
NAT2	P11245	p.Gln70His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400213G>T	NCI-TCGA
NAT2	P11245	p.Gln70Ter	COSM3646977	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.18400211C>T	NCI-TCGA Cosmic
NAT2	P11245	p.Asn72Ser	rs201080763	missense variant	-	NC_000008.11:g.18400218A>G	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gln73Ter	rs1408322773	stop gained	-	NC_000008.11:g.18400220C>T	gnomAD
NAT2	P11245	p.Gln73His	rs750089838	missense variant	-	NC_000008.11:g.18400222A>C	ExAC,gnomAD
NAT2	P11245	p.Leu75Val	rs1371741216	missense variant	-	NC_000008.11:g.18400226C>G	TOPMed,gnomAD
NAT2	P11245	p.Tyr76Ter	rs72466459	stop gained	-	NC_000008.11:g.18400231C>A	gnomAD
NAT2	P11245	p.Tyr76Ter	rs72466459	stop gained	-	NC_000008.11:g.18400231C>G	gnomAD
NAT2	P11245	p.Trp77Ter	rs1311450114	stop gained	-	NC_000008.11:g.18400233G>A	TOPMed,gnomAD
NAT2	P11245	p.Thr80Ser	rs1284492798	missense variant	-	NC_000008.11:g.18400242C>G	gnomAD
NAT2	P11245	p.Thr81Ala	rs1422696182	missense variant	-	NC_000008.11:g.18400244A>G	TOPMed
NAT2	P11245	p.Thr81Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400245C>T	NCI-TCGA
NAT2	P11245	p.Thr81Lys	rs951834305	missense variant	-	NC_000008.11:g.18400245C>A	gnomAD
NAT2	P11245	p.Ile82Phe	rs1342819768	missense variant	-	NC_000008.11:g.18400247A>T	gnomAD
NAT2	P11245	p.Gly83Val	rs561124342	missense variant	-	NC_000008.11:g.18400251G>T	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly83Ala	rs561124342	missense variant	-	NC_000008.11:g.18400251G>C	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly83Ser	rs746734312	missense variant	-	NC_000008.11:g.18400250G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly83Cys	rs746734312	missense variant	-	NC_000008.11:g.18400250G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Phe84Tyr	rs773321494	missense variant	-	NC_000008.11:g.18400254T>A	ExAC,gnomAD
NAT2	P11245	p.Gln85Ter	rs1260133999	stop gained	-	NC_000008.11:g.18400256C>T	gnomAD
NAT2	P11245	p.Gln85His	rs763106203	missense variant	-	NC_000008.11:g.18400258G>C	ExAC,gnomAD
NAT2	P11245	p.Gln85Pro	rs1474441417	missense variant	-	NC_000008.11:g.18400257A>C	gnomAD
NAT2	P11245	p.Thr86Asn	rs771145519	missense variant	-	NC_000008.11:g.18400260C>A	ExAC,gnomAD
NAT2	P11245	p.Met88Val	rs774706631	missense variant	-	NC_000008.11:g.18400265A>G	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Met88Leu	rs774706631	missense variant	-	NC_000008.11:g.18400265A>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Met88Thr	rs1172380462	missense variant	-	NC_000008.11:g.18400266T>C	gnomAD
NAT2	P11245	p.Gly90Glu	rs1490596479	missense variant	-	NC_000008.11:g.18400272G>A	TOPMed
NAT2	P11245	p.Gly90Arg	rs759840221	missense variant	-	NC_000008.11:g.18400271G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Tyr94Phe	rs555947824	missense variant	-	NC_000008.11:g.18400284A>T	gnomAD
NAT2	P11245	p.Ile95Thr	rs1427989661	missense variant	-	NC_000008.11:g.18400287T>C	gnomAD
NAT2	P11245	p.Ile95Met	rs948085566	missense variant	-	NC_000008.11:g.18400288C>G	TOPMed,gnomAD
NAT2	P11245	p.Pro96Leu	rs761144507	missense variant	-	NC_000008.11:g.18400290C>T	ExAC,gnomAD
NAT2	P11245	p.Pro96His	rs761144507	missense variant	-	NC_000008.11:g.18400290C>A	ExAC,gnomAD
NAT2	P11245	p.Pro97Ala	rs1233452008	missense variant	-	NC_000008.11:g.18400292C>G	gnomAD
NAT2	P11245	p.Pro97Leu	rs1321612090	missense variant	-	NC_000008.11:g.18400293C>T	TOPMed
NAT2	P11245	p.Val98Ile	rs927916278	missense variant	-	NC_000008.11:g.18400295G>A	gnomAD
NAT2	P11245	p.Asn99Asp	rs764673578	missense variant	-	NC_000008.11:g.18400298A>G	ExAC,gnomAD
NAT2	P11245	p.Lys100Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400301A>G	NCI-TCGA
NAT2	P11245	p.Tyr101His	rs1200849934	missense variant	-	NC_000008.11:g.18400304T>C	gnomAD
NAT2	P11245	p.Tyr101Ter	rs1225528067	stop gained	-	NC_000008.11:g.18400305dup	TOPMed
NAT2	P11245	p.Thr103Ser	rs749903527	missense variant	-	NC_000008.11:g.18400311C>G	ExAC,gnomAD
NAT2	P11245	p.Gly104Ser	rs1445503066	missense variant	-	NC_000008.11:g.18400313G>A	gnomAD
NAT2	P11245	p.Met105Leu	rs757987716	missense variant	-	NC_000008.11:g.18400316A>T	ExAC,gnomAD
NAT2	P11245	p.Val106Ala	COSM1699776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400320T>C	NCI-TCGA Cosmic
NAT2	P11245	p.His107Gln	rs549917500	missense variant	-	NC_000008.11:g.18400324C>A	1000Genomes,ExAC,gnomAD
NAT2	P11245	p.Leu108Arg	rs751243960	missense variant	-	NC_000008.11:g.18400326T>G	ExAC,gnomAD
NAT2	P11245	p.Gln111Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400335A>G	NCI-TCGA
NAT2	P11245	p.Gln111His	rs754884737	missense variant	-	NC_000008.11:g.18400336G>C	ExAC,gnomAD
NAT2	P11245	p.Val112Met	rs1383708687	missense variant	-	NC_000008.11:g.18400337G>A	gnomAD
NAT2	P11245	p.Ile114Thr	rs1801280	missense variant	-	NC_000008.11:g.18400344T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ile114Val	rs781102691	missense variant	-	NC_000008.11:g.18400343A>G	ExAC,gnomAD
NAT2	P11245	p.Gly116Ser	rs183409091	missense variant	-	NC_000008.11:g.18400349G>A	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Arg117Ser	rs879610883	missense variant	-	NC_000008.11:g.18400354G>T	gnomAD
NAT2	P11245	p.Arg117Thr	rs749323416	missense variant	-	NC_000008.11:g.18400353G>C	ExAC,gnomAD
NAT2	P11245	p.Asn118Ser	rs1349204233	missense variant	-	NC_000008.11:g.18400356A>G	TOPMed
NAT2	P11245	p.Asn118Asp	rs1233619276	missense variant	-	NC_000008.11:g.18400355A>G	gnomAD
NAT2	P11245	p.Ile120Val	rs1405169350	missense variant	-	NC_000008.11:g.18400361A>G	TOPMed
NAT2	P11245	p.Asp122His	rs4986996	missense variant	-	NC_000008.11:g.18400367G>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Asp122Gly	rs559660817	missense variant	-	NC_000008.11:g.18400368A>G	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Asp122Tyr	rs4986996	missense variant	-	NC_000008.11:g.18400367G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Asp122Asn	rs4986996	missense variant	-	NC_000008.11:g.18400367G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ala123Val	rs1243197391	missense variant	-	NC_000008.11:g.18400371C>T	TOPMed
NAT2	P11245	p.Ala123Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400371C>A	NCI-TCGA
NAT2	P11245	p.Gly124Val	rs764591879	missense variant	-	NC_000008.11:g.18400374G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly124Glu	rs764591879	missense variant	-	NC_000008.11:g.18400374G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly126Arg	COSM4545381	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400379G>A	NCI-TCGA Cosmic
NAT2	P11245	p.Ser127Arg	rs140983217	missense variant	-	NC_000008.11:g.18400384C>A	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ser127Arg	rs140983217	missense variant	-	NC_000008.11:g.18400384C>G	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ser128Tyr	rs1181461804	missense variant	-	NC_000008.11:g.18400386C>A	gnomAD
NAT2	P11245	p.Met131Ile	rs754657440	missense variant	-	NC_000008.11:g.18400396G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Met131Ile	rs754657440	missense variant	-	NC_000008.11:g.18400396G>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Met131Ile	rs754657440	missense variant	-	NC_000008.11:g.18400396G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Trp132Cys	rs767445699	missense variant	-	NC_000008.11:g.18400399G>C	ExAC,gnomAD
NAT2	P11245	p.Gln133His	COSM3929475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400402G>C	NCI-TCGA Cosmic
NAT2	P11245	p.Pro134Ser	rs752501077	missense variant	-	NC_000008.11:g.18400403C>T	ExAC
NAT2	P11245	p.Pro134AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.18400401_18400402insG	NCI-TCGA
NAT2	P11245	p.Pro134Ser	rs752501077	missense variant	-	NC_000008.11:g.18400403C>T	NCI-TCGA,NCI-TCGA Cosmic
NAT2	P11245	p.Leu135Pro	rs1323316428	missense variant	-	NC_000008.11:g.18400407T>C	gnomAD
NAT2	P11245	p.Leu135Val	rs12720065	missense variant	-	NC_000008.11:g.18400406C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Leu137Phe	rs4986997	missense variant	-	NC_000008.11:g.18400414A>C	ExAC,gnomAD
NAT2	P11245	p.Leu137Ser	rs1392723145	missense variant	-	NC_000008.11:g.18400413T>C	gnomAD
NAT2	P11245	p.Leu137Phe	rs4986997	missense variant	-	NC_000008.11:g.18400414A>T	ExAC,gnomAD
NAT2	P11245	p.Ile138Leu	rs1328178338	missense variant	-	NC_000008.11:g.18400415A>C	TOPMed,gnomAD
NAT2	P11245	p.Gly140Arg	rs749172780	missense variant	-	NC_000008.11:g.18400421G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly140Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400422G>C	NCI-TCGA
NAT2	P11245	p.Lys141Gln	rs778936592	missense variant	-	NC_000008.11:g.18400424A>C	ExAC,gnomAD
NAT2	P11245	p.Asp142Glu	rs1413819756	missense variant	-	NC_000008.11:g.18400429T>A	gnomAD
NAT2	P11245	p.Gln143Ter	COSM1331082	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.18400430C>T	NCI-TCGA Cosmic
NAT2	P11245	p.Gln145His	rs775833318	missense variant	-	NC_000008.11:g.18400438G>C	ExAC,gnomAD
NAT2	P11245	p.Gln145Pro	rs72554616	missense variant	-	NC_000008.11:g.18400437A>C	ExAC,gnomAD
NAT2	P11245	p.Gln145Pro	rs72554616	missense variant	-	NC_000008.11:g.18400437A>C	UniProt,dbSNP
NAT2	P11245	p.Gln145Pro	VAR_009076	missense variant	-	NC_000008.11:g.18400437A>C	UniProt
NAT2	P11245	p.Gln145Lys	rs1432822488	missense variant	-	NC_000008.11:g.18400436C>A	TOPMed
NAT2	P11245	p.Pro147Ser	rs1357210737	missense variant	-	NC_000008.11:g.18400442C>T	gnomAD
NAT2	P11245	p.Ile149AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.18400447_18400448insA	NCI-TCGA
NAT2	P11245	p.Cys151Arg	rs747336755	missense variant	-	NC_000008.11:g.18400454T>C	ExAC,gnomAD
NAT2	P11245	p.Leu152Phe	rs1319339483	missense variant	-	NC_000008.11:g.18400459G>C	TOPMed
NAT2	P11245	p.Leu152Trp	rs374177543	missense variant	-	NC_000008.11:g.18400458T>G	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Thr153Ile	rs72466460	missense variant	-	NC_000008.11:g.18400461C>T	TOPMed,gnomAD
NAT2	P11245	p.Glu155Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400466G>C	NCI-TCGA
NAT2	P11245	p.Glu155Asp	rs368704280	missense variant	-	NC_000008.11:g.18400468G>C	ESP,ExAC,gnomAD
NAT2	P11245	p.Arg156Lys	rs1162331328	missense variant	-	NC_000008.11:g.18400470G>A	gnomAD
NAT2	P11245	p.Gly157Glu	rs770612696	missense variant	-	NC_000008.11:g.18400473G>A	ExAC,gnomAD
NAT2	P11245	p.Ile158Leu	rs139351995	missense variant	-	NC_000008.11:g.18400475A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Trp159Arg	rs537007806	missense variant	-	NC_000008.11:g.18400478T>A	1000Genomes,TOPMed,gnomAD
NAT2	P11245	p.Trp159Arg	rs537007806	missense variant	-	NC_000008.11:g.18400478T>C	1000Genomes,TOPMed,gnomAD
NAT2	P11245	p.Asp162Glu	rs1035625458	missense variant	-	NC_000008.11:g.18400489C>G	TOPMed
NAT2	P11245	p.Ile164Thr	rs139512288	missense variant	-	NC_000008.11:g.18400494T>C	1000Genomes,ExAC,gnomAD
NAT2	P11245	p.Arg165Lys	COSM3646980	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400497G>A	NCI-TCGA Cosmic
NAT2	P11245	p.Arg166Gly	rs1315076417	missense variant	-	NC_000008.11:g.18400499A>G	gnomAD
NAT2	P11245	p.Arg166Thr	rs1354992629	missense variant	-	NC_000008.11:g.18400500G>C	gnomAD
NAT2	P11245	p.Glu167Gln	rs72554617	missense variant	-	NC_000008.11:g.18400502G>C	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Glu167Lys	rs72554617	missense variant	-	NC_000008.11:g.18400502G>A	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gln168His	rs1315180839	missense variant	-	NC_000008.11:g.18400507G>C	TOPMed,gnomAD
NAT2	P11245	p.Tyr169Cys	rs200585149	missense variant	-	NC_000008.11:g.18400509A>G	1000Genomes
NAT2	P11245	p.Tyr169Asp	rs1341104335	missense variant	-	NC_000008.11:g.18400508T>G	gnomAD
NAT2	P11245	p.Thr171Ile	rs956044329	missense variant	-	NC_000008.11:g.18400515C>T	TOPMed
NAT2	P11245	p.Lys173Gln	rs1010029101	missense variant	-	NC_000008.11:g.18400520A>C	TOPMed,gnomAD
NAT2	P11245	p.Lys173Arg	rs369500066	missense variant	-	NC_000008.11:g.18400521A>G	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Glu174Lys	rs753856548	missense variant	-	NC_000008.11:g.18400523G>A	ExAC,gnomAD
NAT2	P11245	p.Leu176Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400529C>T	NCI-TCGA
NAT2	P11245	p.Asn177Lys	rs757090914	missense variant	-	NC_000008.11:g.18400534T>G	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ser178Tyr	rs968770218	missense variant	-	NC_000008.11:g.18400536C>A	TOPMed
NAT2	P11245	p.His179Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400538C>T	NCI-TCGA
NAT2	P11245	p.His179Arg	rs572750517	missense variant	-	NC_000008.11:g.18400539A>G	1000Genomes
NAT2	P11245	p.Leu180Phe	rs778993761	missense variant	-	NC_000008.11:g.18400541C>T	ExAC,gnomAD
NAT2	P11245	p.Lys183Glu	rs1232810154	missense variant	-	NC_000008.11:g.18400550A>G	TOPMed
NAT2	P11245	p.Lys183Thr	rs1484935093	missense variant	-	NC_000008.11:g.18400551A>C	gnomAD
NAT2	P11245	p.Lys184Thr	COSM3898586	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400554A>C	NCI-TCGA Cosmic
NAT2	P11245	p.His186Tyr	rs1311332863	missense variant	-	NC_000008.11:g.18400559C>T	TOPMed
NAT2	P11245	p.Gln187His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400564A>C	NCI-TCGA
NAT2	P11245	p.Gln187Glu	rs372084377	missense variant	-	NC_000008.11:g.18400562C>G	ESP,ExAC,TOPMed
NAT2	P11245	p.Ile189Met	rs780311376	missense variant	-	NC_000008.11:g.18400570A>G	ExAC,gnomAD
NAT2	P11245	p.Ile189Thr	rs541628619	missense variant	-	NC_000008.11:g.18400569T>C	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ile189AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.18400569T>-	NCI-TCGA
NAT2	P11245	p.Tyr190Cys	rs374761885	missense variant	-	NC_000008.11:g.18400572A>G	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Tyr190Ter	rs769102650	stop gained	-	NC_000008.11:g.18400573C>G	ExAC,gnomAD
NAT2	P11245	p.Tyr190His	rs1388170814	missense variant	-	NC_000008.11:g.18400571T>C	gnomAD
NAT2	P11245	p.Thr193Met	rs79050330	missense variant	-	NC_000008.11:g.18400581C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Thr193Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400580A>G	NCI-TCGA
NAT2	P11245	p.Thr193Met	rs79050330	missense variant	-	NC_000008.11:g.18400581C>T	NCI-TCGA,NCI-TCGA Cosmic
NAT2	P11245	p.Leu194Val	rs774002627	missense variant	-	NC_000008.11:g.18400583C>G	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Leu194Pro	rs1381655226	missense variant	-	NC_000008.11:g.18400584T>C	gnomAD
NAT2	P11245	p.Glu195Gln	rs759059031	missense variant	-	NC_000008.11:g.18400586G>C	ExAC,gnomAD
NAT2	P11245	p.Pro196Arg	rs775284097	missense variant	-	NC_000008.11:g.18400590C>G	ExAC,gnomAD
NAT2	P11245	p.Pro196Thr	rs771698130	missense variant	-	NC_000008.11:g.18400589C>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Arg197Gln	rs1799930	missense variant	-	NC_000008.11:g.18400593G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Arg197Gln	rs1799930	missense variant	-	NC_000008.11:g.18400593G>A	UniProt,dbSNP
NAT2	P11245	p.Arg197Gln	VAR_004610	missense variant	-	NC_000008.11:g.18400593G>A	UniProt
NAT2	P11245	p.Arg197Ter	rs375746304	stop gained	-	NC_000008.11:g.18400592C>T	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Thr198Arg	rs1390083945	missense variant	-	NC_000008.11:g.18400596C>G	TOPMed
NAT2	P11245	p.Ile199Thr	rs761741098	missense variant	-	NC_000008.11:g.18400599T>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ile199Asn	rs761741098	missense variant	-	NC_000008.11:g.18400599T>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Glu200Lys	COSM3646981	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400601G>A	NCI-TCGA Cosmic
NAT2	P11245	p.Glu200Ter	rs1483375862	stop gained	-	NC_000008.11:g.18400601G>T	gnomAD
NAT2	P11245	p.Asp201Tyr	rs750343726	missense variant	-	NC_000008.11:g.18400604G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Asp201Asn	rs750343726	missense variant	-	NC_000008.11:g.18400604G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Phe202Ser	rs1450863488	missense variant	-	NC_000008.11:g.18400608T>C	gnomAD
NAT2	P11245	p.Glu203Asp	rs45618543	missense variant	-	NC_000008.11:g.18400612G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Glu203Gln	rs758539294	missense variant	-	NC_000008.11:g.18400610G>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Glu203Asp	rs45618543	missense variant	-	NC_000008.11:g.18400612G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Glu203Gly	rs1481100252	missense variant	-	NC_000008.11:g.18400611A>G	TOPMed
NAT2	P11245	p.Ser204Tyr	rs755105691	missense variant	-	NC_000008.11:g.18400614C>A	ExAC,gnomAD
NAT2	P11245	p.Met205Leu	rs45607939	missense variant	-	NC_000008.11:g.18400616A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Met205Ile	rs531322433	missense variant	-	NC_000008.11:g.18400618G>C	ExAC,gnomAD
NAT2	P11245	p.Met205Val	rs45607939	missense variant	-	NC_000008.11:g.18400616A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Tyr208Cys	rs1318865257	missense variant	-	NC_000008.11:g.18400626A>G	gnomAD
NAT2	P11245	p.Tyr208His	rs56387565	missense variant	-	NC_000008.11:g.18400625T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Leu209Arg	rs1246640246	missense variant	-	NC_000008.11:g.18400629T>G	TOPMed
NAT2	P11245	p.Gln210Lys	rs1370491254	missense variant	-	NC_000008.11:g.18400631C>A	gnomAD
NAT2	P11245	p.Thr211Met	rs749810939	missense variant	-	NC_000008.11:g.18400635C>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Thr211Lys	rs749810939	missense variant	-	NC_000008.11:g.18400635C>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Thr211Met	rs749810939	missense variant	-	NC_000008.11:g.18400635C>T	NCI-TCGA,NCI-TCGA Cosmic
NAT2	P11245	p.Pro213Leu	rs138707146	missense variant	-	NC_000008.11:g.18400641C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Phe217Tyr	rs568110818	missense variant	-	NC_000008.11:g.18400653T>A	1000Genomes,ExAC,gnomAD
NAT2	P11245	p.Ile218Val	rs1231891119	missense variant	-	NC_000008.11:g.18400655A>G	gnomAD
NAT2	P11245	p.Thr219Ser	rs376918049	missense variant	-	NC_000008.11:g.18400658A>T	ESP,ExAC,gnomAD
NAT2	P11245	p.Thr220Ile	rs761651231	missense variant	-	NC_000008.11:g.18400662C>T	ExAC,gnomAD
NAT2	P11245	p.Ser221Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400664T>G	NCI-TCGA
NAT2	P11245	p.Ser221Leu	COSM4818209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400665C>T	NCI-TCGA Cosmic
NAT2	P11245	p.Cys223Ser	rs1265895628	missense variant	-	NC_000008.11:g.18400671G>C	gnomAD
NAT2	P11245	p.Cys223Ser	rs765010993	missense variant	-	NC_000008.11:g.18400670T>A	ExAC
NAT2	P11245	p.Cys223Trp	rs1344597702	missense variant	-	NC_000008.11:g.18400672T>G	TOPMed,gnomAD
NAT2	P11245	p.Ser224Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400674C>T	NCI-TCGA
NAT2	P11245	p.Leu225Ter	rs762854719	stop gained	-	NC_000008.11:g.18400677T>A	ExAC,gnomAD
NAT2	P11245	p.Leu225Ser	COSM75560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400677T>C	NCI-TCGA Cosmic
NAT2	P11245	p.Pro228Ser	rs150329557	missense variant	-	NC_000008.11:g.18400685C>T	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Pro228Leu	rs45518335	missense variant	-	NC_000008.11:g.18400686C>T	UniProt,dbSNP
NAT2	P11245	p.Pro228Leu	VAR_018854	missense variant	-	NC_000008.11:g.18400686C>T	UniProt
NAT2	P11245	p.Pro228Leu	rs45518335	missense variant	-	NC_000008.11:g.18400686C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Glu229Gly	rs755233460	missense variant	-	NC_000008.11:g.18400689A>G	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly230Val	rs749948990	missense variant	-	NC_000008.11:g.18400692G>T	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Val231Ile	rs752955201	missense variant	-	NC_000008.11:g.18400694G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Tyr232Ter	rs1157192529	stop gained	-	NC_000008.11:g.18400699C>A	gnomAD
NAT2	P11245	p.Tyr232Ter	rs1157192529	stop gained	-	NC_000008.11:g.18400699C>G	gnomAD
NAT2	P11245	p.Cys233Ser	rs1414496827	missense variant	-	NC_000008.11:g.18400701G>C	TOPMed,gnomAD
NAT2	P11245	p.Val235Gly	rs756616433	missense variant	-	NC_000008.11:g.18400707T>G	ExAC,gnomAD
NAT2	P11245	p.Val235Leu	rs1252922818	missense variant	-	NC_000008.11:g.18400706G>C	TOPMed
NAT2	P11245	p.Gly236Arg	rs778253810	missense variant	-	NC_000008.11:g.18400709G>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly236Ser	rs778253810	missense variant	-	NC_000008.11:g.18400709G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly236Asp	rs149460636	missense variant	-	NC_000008.11:g.18400710G>A	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly236Val	rs149460636	missense variant	-	NC_000008.11:g.18400710G>T	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ile238Leu	rs757793253	missense variant	-	NC_000008.11:g.18400715A>C	ExAC,gnomAD
NAT2	P11245	p.Thr240Ile	rs568250144	missense variant	-	NC_000008.11:g.18400722C>T	gnomAD
NAT2	P11245	p.Thr240Asn	rs568250144	missense variant	-	NC_000008.11:g.18400722C>A	gnomAD
NAT2	P11245	p.Lys243Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400730A>C	NCI-TCGA
NAT2	P11245	p.Phe244Leu	COSM486276	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400733T>C	NCI-TCGA Cosmic
NAT2	P11245	p.Asn245Ser	rs746441923	missense variant	-	NC_000008.11:g.18400737A>G	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Tyr246Cys	rs776210861	missense variant	-	NC_000008.11:g.18400740A>G	ExAC,gnomAD
NAT2	P11245	p.Lys247Glu	rs1271976533	missense variant	-	NC_000008.11:g.18400742A>G	gnomAD
NAT2	P11245	p.Asp248Asn	rs747765495	missense variant	-	NC_000008.11:g.18400745G>A	ExAC,gnomAD
NAT2	P11245	p.Asn249Ser	rs904393746	missense variant	-	NC_000008.11:g.18400749A>G	TOPMed,gnomAD
NAT2	P11245	p.Asn249His	rs769624189	missense variant	-	NC_000008.11:g.18400748A>C	ExAC,gnomAD
NAT2	P11245	p.Thr250Lys	rs996188894	missense variant	-	NC_000008.11:g.18400752C>A	TOPMed,gnomAD
NAT2	P11245	p.Asp251Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18400754G>T	NCI-TCGA
NAT2	P11245	p.Asp251Asn	rs772941387	missense variant	-	NC_000008.11:g.18400754G>A	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Val253Ala	rs762908305	missense variant	-	NC_000008.11:g.18400761T>C	ExAC,gnomAD
NAT2	P11245	p.Val253Ile	rs1473049060	missense variant	-	NC_000008.11:g.18400760G>A	gnomAD
NAT2	P11245	p.Glu254Lys	rs369191649	missense variant	-	NC_000008.11:g.18400763G>A	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Lys256Glu	rs55700793	missense variant	-	NC_000008.11:g.18400769A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Lys256Ter	rs55700793	stop gained	-	NC_000008.11:g.18400769A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Thr257Ala	rs373698592	missense variant	-	NC_000008.11:g.18400772A>G	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Thr257Ser	rs373698592	missense variant	-	NC_000008.11:g.18400772A>T	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Thr257Ser	rs756385259	missense variant	-	NC_000008.11:g.18400773C>G	ExAC,gnomAD
NAT2	P11245	p.Leu258Val	rs764579294	missense variant	-	NC_000008.11:g.18400775C>G	ExAC,gnomAD
NAT2	P11245	p.Thr259Ala	rs1310257229	missense variant	-	NC_000008.11:g.18400778A>G	gnomAD
NAT2	P11245	p.Thr259Asn	rs1304162037	missense variant	-	NC_000008.11:g.18400779C>A	TOPMed
NAT2	P11245	p.Thr259Ala	rs1310257229	missense variant	-	NC_000008.11:g.18400778A>G	NCI-TCGA Cosmic
NAT2	P11245	p.Glu260Lys	rs754185402	missense variant	-	NC_000008.11:g.18400781G>A	ExAC,gnomAD
NAT2	P11245	p.Glu260Asp	rs757792034	missense variant	-	NC_000008.11:g.18400783G>C	ExAC,gnomAD
NAT2	P11245	p.Glu260Gln	rs754185402	missense variant	-	NC_000008.11:g.18400781G>C	ExAC,gnomAD
NAT2	P11245	p.Glu261Gly	rs1229559151	missense variant	-	NC_000008.11:g.18400785A>G	gnomAD
NAT2	P11245	p.Glu262Asp	rs779344462	missense variant	-	NC_000008.11:g.18400789G>C	ExAC
NAT2	P11245	p.Val263Ala	rs968335980	missense variant	-	NC_000008.11:g.18400791T>C	TOPMed,gnomAD
NAT2	P11245	p.Val263Ile	rs1290457380	missense variant	-	NC_000008.11:g.18400790G>A	gnomAD
NAT2	P11245	p.Val266Met	rs539346244	missense variant	-	NC_000008.11:g.18400799G>A	1000Genomes,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Lys268Arg	rs1208	missense variant	-	NC_000008.11:g.18400806=	UniProt,dbSNP
NAT2	P11245	p.Lys268Arg	VAR_004611	missense variant	-	NC_000008.11:g.18400806=	UniProt
NAT2	P11245	p.Arg268Lys	rs1208	missense variant	-	NC_000008.11:g.18400806G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Arg268Gly	rs910738034	missense variant	-	NC_000008.11:g.18400805A>G	gnomAD
NAT2	P11245	p.Arg268Ile	rs1208	missense variant	-	NC_000008.11:g.18400806G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Lys268Arg	VAR_004611	Missense	-	-	UniProt
NAT2	P11245	p.Ile270Thr	rs868725509	missense variant	-	NC_000008.11:g.18400812T>C	TOPMed,gnomAD
NAT2	P11245	p.Ile270Met	rs1235991376	missense variant	-	NC_000008.11:g.18400813A>G	gnomAD
NAT2	P11245	p.Phe271Leu	rs780656764	missense variant	-	NC_000008.11:g.18400814T>C	ExAC,TOPMed,gnomAD
NAT2	P11245	p.Lys272Glu	rs1182548272	missense variant	-	NC_000008.11:g.18400817A>G	gnomAD
NAT2	P11245	p.Ser274Phe	COSM3646982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18400824C>T	NCI-TCGA Cosmic
NAT2	P11245	p.Leu275Met	rs148566670	missense variant	-	NC_000008.11:g.18400826T>A	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Gly276Glu	rs1448193837	missense variant	-	NC_000008.11:g.18400830G>A	gnomAD
NAT2	P11245	p.Gly276Arg	rs1269922864	missense variant	-	NC_000008.11:g.18400829G>C	TOPMed
NAT2	P11245	p.Gly276Glu	rs1448193837	missense variant	-	NC_000008.11:g.18400830G>A	NCI-TCGA
NAT2	P11245	p.Arg277Lys	rs1434541633	missense variant	-	NC_000008.11:g.18400833G>A	gnomAD
NAT2	P11245	p.Arg277Ter	rs980236111	stop gained	-	NC_000008.11:g.18400832A>T	TOPMed,gnomAD
NAT2	P11245	p.Leu279Arg	rs777549905	missense variant	-	NC_000008.11:g.18400839T>G	ExAC,gnomAD
NAT2	P11245	p.Val280Met	rs56393504	missense variant	-	NC_000008.11:g.18400841G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Val280Leu	rs56393504	missense variant	-	NC_000008.11:g.18400841G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Pro281Thr	rs1363900196	missense variant	-	NC_000008.11:g.18400844C>A	TOPMed,gnomAD
NAT2	P11245	p.Lys282Thr	rs56054745	missense variant	-	NC_000008.11:g.18400848A>C	UniProt,dbSNP
NAT2	P11245	p.Lys282Thr	VAR_009077	missense variant	-	NC_000008.11:g.18400848A>C	UniProt
NAT2	P11245	p.Lys282Thr	rs56054745	missense variant	-	NC_000008.11:g.18400848A>C	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Lys282Arg	rs56054745	missense variant	-	NC_000008.11:g.18400848A>G	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Pro283Ala	rs772095430	missense variant	-	NC_000008.11:g.18400850C>G	ExAC,gnomAD
NAT2	P11245	p.Pro283Arg	rs775667197	missense variant	-	NC_000008.11:g.18400851C>G	ExAC,gnomAD
NAT2	P11245	p.Asp285Gly	rs1283582970	missense variant	-	NC_000008.11:g.18400857A>G	TOPMed
NAT2	P11245	p.Gly286Glu	rs1799931	missense variant	-	NC_000008.11:g.18400860G>A	UniProt,dbSNP
NAT2	P11245	p.Gly286Glu	VAR_004612	missense variant	-	NC_000008.11:g.18400860G>A	UniProt
NAT2	P11245	p.Gly286Glu	rs1799931	missense variant	-	NC_000008.11:g.18400860G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ser287Pro	rs72554618	missense variant	-	NC_000008.11:g.18400862T>C	ExAC
NAT2	P11245	p.Ser287Cys	rs1211162895	missense variant	-	NC_000008.11:g.18400863C>G	gnomAD
NAT2	P11245	p.Ile290Thr	rs762148940	missense variant	-	NC_000008.11:g.18400872T>C	ExAC,gnomAD
NAT2	P11245	p.Ter291Glu	rs146801219	stop lost	-	NC_000008.11:g.18400874T>G	ESP,ExAC,TOPMed,gnomAD
NAT2	P11245	p.Ter291Trp	rs750940890	stop lost	-	NC_000008.11:g.18400875A>G	ExAC,gnomAD
FGFR1	P11362	p.Trp2Ter	rs1554594114	stop gained	-	NC_000008.11:g.38457441C>T	-
FGFR1	P11362	p.Trp2Ter	RCV000662312	nonsense	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38457441C>T	ClinVar
FGFR1	P11362	p.Ser3Ile	COSM6180979	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38457439C>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Ser3Cys	rs1241452278	missense variant	-	NC_000008.11:g.38457440T>A	gnomAD
FGFR1	P11362	p.Ser3Asn	rs751651299	missense variant	-	NC_000008.11:g.38457439C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Trp4Cys	rs760884357	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38457435C>G	UniProt,dbSNP
FGFR1	P11362	p.Trp4Cys	VAR_074012	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38457435C>G	UniProt
FGFR1	P11362	p.Trp4Cys	rs760884357	missense variant	-	NC_000008.11:g.38457435C>G	gnomAD
FGFR1	P11362	p.Leu7Arg	rs532741632	missense variant	-	NC_000008.11:g.38457427A>C	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Leu7Phe	rs1202687392	missense variant	-	NC_000008.11:g.38457428G>A	gnomAD
FGFR1	P11362	p.Leu8Phe	rs1259538191	missense variant	-	NC_000008.11:g.38457425G>A	gnomAD
FGFR1	P11362	p.Phe9Ile	rs750602076	missense variant	-	NC_000008.11:g.38457422A>T	ExAC,gnomAD
FGFR1	P11362	p.Trp10Cys	COSM4858059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38457417C>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Trp10Arg	rs1285368969	missense variant	-	NC_000008.11:g.38457419A>G	TOPMed,gnomAD
FGFR1	P11362	p.Ala11Val	rs762020019	missense variant	-	NC_000008.11:g.38457415G>A	ExAC,gnomAD
FGFR1	P11362	p.Ala11Thr	rs765703437	missense variant	-	NC_000008.11:g.38457416C>T	ExAC,gnomAD
FGFR1	P11362	p.Leu13Pro	rs764533580	missense variant	-	NC_000008.11:g.38457409A>G	ExAC,gnomAD
FGFR1	P11362	p.Thr15Ter	RCV000711646	frameshift	-	NC_000008.11:g.38457405_38457411dup	ClinVar
FGFR1	P11362	p.Ala16Val	rs200596591	missense variant	-	NC_000008.11:g.38457400G>A	ExAC,gnomAD
FGFR1	P11362	p.Leu18Phe	rs771549051	missense variant	-	NC_000008.11:g.38457395G>A	ExAC,gnomAD
FGFR1	P11362	p.Cys19Ser	rs759243486	missense variant	-	NC_000008.11:g.38457391C>G	ExAC,gnomAD
FGFR1	P11362	p.Thr20Ile	COSM3648925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38457388G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Ala21Thr	rs1383262590	missense variant	-	NC_000008.11:g.38457386C>T	gnomAD
FGFR1	P11362	p.Arg22Ser	rs17175750	missense variant	-	NC_000008.11:g.38457381C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg22Gly	rs148343099	missense variant	-	NC_000008.11:g.38457383T>C	ESP,ExAC,TOPMed
FGFR1	P11362	p.Pro23Leu	rs143341876	missense variant	-	NC_000008.11:g.38457379G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro25Leu	rs149206728	missense variant	-	NC_000008.11:g.38457373G>A	ESP,TOPMed,gnomAD
FGFR1	P11362	p.Leu27Phe	rs1230569367	missense variant	-	NC_000008.11:g.38457366C>A	TOPMed,gnomAD
FGFR1	P11362	p.Pro28Ser	rs1204612499	missense variant	-	NC_000008.11:g.38457365G>A	gnomAD
FGFR1	P11362	p.Pro28Leu	RCV000493590	missense variant	-	NC_000008.11:g.38457364G>A	ClinVar
FGFR1	P11362	p.Pro28Leu	rs145434725	missense variant	-	NC_000008.11:g.38457364G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu29Gly	rs758551875	missense variant	-	NC_000008.11:g.38457361T>C	ExAC,gnomAD
FGFR1	P11362	p.Glu29Asp	rs1240973335	missense variant	-	NC_000008.11:g.38457360T>G	gnomAD
FGFR1	P11362	p.Pro33Ser	rs1371683958	missense variant	-	NC_000008.11:g.38429943G>A	gnomAD
FGFR1	P11362	p.Gly35Arg	rs773442656	missense variant	-	NC_000008.11:g.38429937C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ala36Val	rs1424869652	missense variant	-	NC_000008.11:g.38429933G>A	gnomAD
FGFR1	P11362	p.Val38Met	rs377555354	missense variant	-	NC_000008.11:g.38429928C>T	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu39Lys	rs1164001578	missense variant	-	NC_000008.11:g.38429925C>T	gnomAD
FGFR1	P11362	p.Val40Met	rs1181847676	missense variant	-	NC_000008.11:g.38429922C>T	gnomAD
FGFR1	P11362	p.Glu41Val	rs938545315	missense variant	-	NC_000008.11:g.38429918T>A	gnomAD
FGFR1	P11362	p.Glu41Lys	rs1460882520	missense variant	-	NC_000008.11:g.38429919C>T	gnomAD
FGFR1	P11362	p.Ser42Pro	rs1200752017	missense variant	-	NC_000008.11:g.38429916A>G	gnomAD
FGFR1	P11362	p.Phe43Cys	RCV000489554	missense variant	-	NC_000008.11:g.38429912A>C	ClinVar
FGFR1	P11362	p.Phe43Cys	rs1085307493	missense variant	-	NC_000008.11:g.38429912A>C	TOPMed
FGFR1	P11362	p.His46Tyr	rs769061510	missense variant	-	NC_000008.11:g.38429904G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro47Leu	rs747480026	missense variant	-	NC_000008.11:g.38429900G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Gly48Ser	RCV000017691	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38429898C>T	ClinVar
FGFR1	P11362	p.Gly48Ser	rs121909640	missense variant	-	NC_000008.11:g.38429898C>T	-
FGFR1	P11362	p.Gly48Ser	rs121909640	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38429898C>T	UniProt,dbSNP
FGFR1	P11362	p.Gly48Ser	VAR_030968	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38429898C>T	UniProt
FGFR1	P11362	p.Asp49Glu	rs1381400802	missense variant	-	NC_000008.11:g.38429893G>T	TOPMed,gnomAD
FGFR1	P11362	p.Arg54His	rs145315779	missense variant	-	NC_000008.11:g.38429879C>T	1000Genomes,ExAC,gnomAD
FGFR1	P11362	p.Arg54Cys	RCV000552834	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38429880G>A	ClinVar
FGFR1	P11362	p.Arg54Cys	rs778531708	missense variant	-	NC_000008.11:g.38429880G>A	ExAC,gnomAD
FGFR1	P11362	p.Arg56Gln	rs763858257	missense variant	-	NC_000008.11:g.38429873C>T	ExAC,gnomAD
FGFR1	P11362	p.Arg56Trp	rs1034848904	missense variant	-	NC_000008.11:g.38429874G>A	TOPMed
FGFR1	P11362	p.Leu57Met	rs1301127877	missense variant	-	NC_000008.11:g.38429871G>T	TOPMed
FGFR1	P11362	p.Arg58Trp	rs1162148796	missense variant	-	NC_000008.11:g.38429868G>A	gnomAD
FGFR1	P11362	p.Arg58Gln	rs200116660	missense variant	-	NC_000008.11:g.38429867C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp59Val	rs150042321	missense variant	-	NC_000008.11:g.38429864T>A	1000Genomes,ExAC,gnomAD
FGFR1	P11362	p.Asp59Gly	rs150042321	missense variant	-	NC_000008.11:g.38429864T>C	1000Genomes,ExAC,gnomAD
FGFR1	P11362	p.Asp60Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38429861T>C	NCI-TCGA
FGFR1	P11362	p.Val61Met	rs762089291	missense variant	-	NC_000008.11:g.38429859C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Val61Ala	rs776846726	missense variant	-	NC_000008.11:g.38429858A>G	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Gln62His	rs1195026291	missense variant	-	NC_000008.11:g.38429854C>G	gnomAD
FGFR1	P11362	p.Ile64Phe	COSM1099654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38429850T>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Asn65His	rs768919123	missense variant	-	NC_000008.11:g.38429847T>G	ExAC,gnomAD
FGFR1	P11362	p.Asn65Ser	rs375271913	missense variant	-	NC_000008.11:g.38429846T>C	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg68Gln	rs1358163666	missense variant	-	NC_000008.11:g.38429837C>T	gnomAD
FGFR1	P11362	p.Arg68Trp	rs775895631	missense variant	-	NC_000008.11:g.38429838G>A	ExAC,gnomAD
FGFR1	P11362	p.Asp69Gly	rs1240511730	missense variant	-	NC_000008.11:g.38429834T>C	gnomAD
FGFR1	P11362	p.Asp69Asn	rs1309311395	missense variant	-	NC_000008.11:g.38429835C>T	TOPMed,gnomAD
FGFR1	P11362	p.Gly70Trp	rs140254426	missense variant	-	NC_000008.11:g.38429832C>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Gly70Arg	rs140254426	missense variant	-	NC_000008.11:g.38429832C>T	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Gly70Arg	rs140254426	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38429832C>T	UniProt,dbSNP
FGFR1	P11362	p.Gly70Arg	VAR_072993	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38429832C>T	UniProt
FGFR1	P11362	p.Val71Leu	RCV000323081	missense variant	-	NC_000008.11:g.38429829C>A	ClinVar
FGFR1	P11362	p.Val71Leu	rs561300213	missense variant	-	NC_000008.11:g.38429829C>A	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Gln72Ter	rs1554570813	stop gained	-	NC_000008.11:g.38429826G>A	-
FGFR1	P11362	p.Gln72Ter	RCV000593963	nonsense	-	NC_000008.11:g.38429826G>A	ClinVar
FGFR1	P11362	p.Ala74Val	rs143241978	missense variant	-	NC_000008.11:g.38429819G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu75Lys	rs1445020368	missense variant	-	NC_000008.11:g.38429817C>T	TOPMed
FGFR1	P11362	p.Ser76Gly	rs777425797	missense variant	-	NC_000008.11:g.38429814T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ser76Thr	rs755882398	missense variant	-	NC_000008.11:g.38429813C>G	ExAC,gnomAD
FGFR1	P11362	p.Asn77Ser	rs752495999	missense variant	-	NC_000008.11:g.38429810T>C	ExAC,gnomAD
FGFR1	P11362	p.Asn77Lys	rs767195580	missense variant	-	NC_000008.11:g.38429809G>C	UniProt,dbSNP
FGFR1	P11362	p.Asn77Lys	VAR_030969	missense variant	-	NC_000008.11:g.38429809G>C	UniProt
FGFR1	P11362	p.Asn77Lys	rs767195580	missense variant	-	NC_000008.11:g.38429809G>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg78Cys	rs1554570706	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38429808G>A	UniProt,dbSNP
FGFR1	P11362	p.Arg78Cys	VAR_030970	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38429808G>A	UniProt
FGFR1	P11362	p.Arg78His	rs754968374	missense variant	-	NC_000008.11:g.38429807C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg78Cys	RCV000704507	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38429808G>A	ClinVar
FGFR1	P11362	p.Thr79Ala	rs1306185959	missense variant	-	NC_000008.11:g.38429805T>C	gnomAD
FGFR1	P11362	p.Arg80His	rs201055054	missense variant	-	NC_000008.11:g.38429801C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg80Cys	rs751494167	missense variant	-	NC_000008.11:g.38429802G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ile81Val	rs201574031	missense variant	-	NC_000008.11:g.38429799T>C	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Thr82Ile	rs760780809	missense variant	-	NC_000008.11:g.38429795G>A	ExAC,gnomAD
FGFR1	P11362	p.Thr82Arg	rs760780809	missense variant	-	NC_000008.11:g.38429795G>C	ExAC,gnomAD
FGFR1	P11362	p.Gly83Glu	rs775969080	missense variant	-	NC_000008.11:g.38429792C>T	ExAC,gnomAD
FGFR1	P11362	p.Val86Met	rs1404670039	missense variant	-	NC_000008.11:g.38429784C>T	gnomAD
FGFR1	P11362	p.Val88Leu	rs139867599	missense variant	-	NC_000008.11:g.38429778C>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Gln89His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38429773C>A	NCI-TCGA
FGFR1	P11362	p.Gln89Arg	rs773938208	missense variant	-	NC_000008.11:g.38429774T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp90Tyr	rs770577710	missense variant	-	NC_000008.11:g.38429772C>A	ExAC,gnomAD
FGFR1	P11362	p.Ser91Pro	rs1486438088	missense variant	-	NC_000008.11:g.38429769A>G	TOPMed
FGFR1	P11362	p.Val92Met	rs755828990	missense variant	-	NC_000008.11:g.38429766C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro93Ser	rs372511659	missense variant	-	NC_000008.11:g.38429763G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ala94Thr	rs751512391	missense variant	-	NC_000008.11:g.38429760C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ala94Ser	rs751512391	missense variant	-	NC_000008.11:g.38429760C>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ala94Glu	rs150973404	missense variant	-	NC_000008.11:g.38429759G>T	ESP,gnomAD
FGFR1	P11362	p.Ser96Cys	VAR_074013	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Gly97Ser	rs1260404537	missense variant	-	NC_000008.11:g.38429751C>T	gnomAD
FGFR1	P11362	p.Gly97Asp	VAR_017885	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Leu98Ile	rs1203704169	missense variant	-	NC_000008.11:g.38429748G>T	gnomAD
FGFR1	P11362	p.Tyr99Cys	rs727505373	missense variant	-	NC_000008.11:g.38429744T>C	gnomAD
FGFR1	P11362	p.Tyr99Cys	RCV000156961	missense variant	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)	NC_000008.11:g.38429744T>C	ClinVar
FGFR1	P11362	p.Tyr99Cys	RCV000156962	missense variant	Delayed puberty	NC_000008.11:g.38429744T>C	ClinVar
FGFR1	P11362	p.Cys101Trp	rs142638017	missense variant	-	NC_000008.11:g.38429737G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Cys101Phe	VAR_030971	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Val102Ile	RCV000625740	missense variant	Hartsfield syndrome	NC_000008.11:g.38429736C>T	ClinVar
FGFR1	P11362	p.Val102Ile	RCV000644523	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38429736C>T	ClinVar
FGFR1	P11362	p.Val102Ile	rs55642501	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38429736C>T	UniProt,dbSNP
FGFR1	P11362	p.Val102Ile	VAR_030972	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38429736C>T	UniProt
FGFR1	P11362	p.Val102Ile	rs55642501	missense variant	-	NC_000008.11:g.38429736C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ser104Arg	COSM3834685	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38429730T>G	NCI-TCGA Cosmic
FGFR1	P11362	p.Ser104Asn	rs752855457	missense variant	-	NC_000008.11:g.38429729C>T	ExAC,gnomAD
FGFR1	P11362	p.Ser105Asn	rs1325974579	missense variant	-	NC_000008.11:g.38429726C>T	gnomAD
FGFR1	P11362	p.Pro106Leu	rs1404198159	missense variant	-	NC_000008.11:g.38429723G>A	gnomAD
FGFR1	P11362	p.Pro106Ser	rs1454598352	missense variant	-	NC_000008.11:g.38429724G>A	gnomAD
FGFR1	P11362	p.Ser107Leu	rs140382957	missense variant	-	NC_000008.11:g.38429720G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ser107Leu	RCV000546208	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38429720G>A	ClinVar
FGFR1	P11362	p.Gly108Ser	rs1419947824	missense variant	-	NC_000008.11:g.38429718C>T	gnomAD
FGFR1	P11362	p.Gly108Ala	rs1169626921	missense variant	-	NC_000008.11:g.38429717C>G	gnomAD
FGFR1	P11362	p.Ser109Asn	rs1474403980	missense variant	-	NC_000008.11:g.38429714C>T	gnomAD
FGFR1	P11362	p.Asp110Asn	rs1372382432	missense variant	-	NC_000008.11:g.38429712C>T	gnomAD
FGFR1	P11362	p.Asp110Gly	rs1183685814	missense variant	-	NC_000008.11:g.38429711T>C	gnomAD
FGFR1	P11362	p.Thr111Ile	rs775020833	missense variant	-	NC_000008.11:g.38429708G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Tyr113Cys	COSM3699074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38429702T>C	NCI-TCGA Cosmic
FGFR1	P11362	p.Tyr113Ter	rs1275520154	stop gained	-	NC_000008.11:g.38429701G>T	gnomAD
FGFR1	P11362	p.Phe114Ile	rs1227903216	missense variant	-	NC_000008.11:g.38429700A>T	TOPMed
FGFR1	P11362	p.Ser115Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38429696G>A	NCI-TCGA
FGFR1	P11362	p.Val116Ile	rs747842199	missense variant	-	NC_000008.11:g.38429694C>T	ExAC,gnomAD
FGFR1	P11362	p.Asn117Ser	rs780765366	missense variant	-	NC_000008.11:g.38429690T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Val118Ile	rs1447767109	missense variant	-	NC_000008.11:g.38429688C>T	gnomAD
FGFR1	P11362	p.Ser119Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38429685A>C	NCI-TCGA
FGFR1	P11362	p.Ser119Leu	rs1354935534	missense variant	-	NC_000008.11:g.38429684G>A	gnomAD
FGFR1	P11362	p.Asp120Gly	rs755042837	missense variant	-	NC_000008.11:g.38428435T>C	ExAC,gnomAD
FGFR1	P11362	p.Ala121Val	rs1307187624	missense variant	-	NC_000008.11:g.38428432G>A	TOPMed,gnomAD
FGFR1	P11362	p.Pro123Ser	COSM3648909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38428427G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Pro123Leu	rs1169416110	missense variant	-	NC_000008.11:g.38428426G>A	TOPMed
FGFR1	P11362	p.Ser124Phe	rs1201443010	missense variant	-	NC_000008.11:g.38428423G>A	gnomAD
FGFR1	P11362	p.Ser124Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38428423G>C	NCI-TCGA
FGFR1	P11362	p.Ser125Leu	RCV000418895	missense variant	Neoplasm	NC_000008.11:g.38428420G>A	ClinVar
FGFR1	P11362	p.Ser125Leu	rs121913473	missense variant	-	NC_000008.11:g.38428420G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ser125Leu	rs121913473	missense variant	-	NC_000008.11:g.38428420G>A	UniProt,dbSNP
FGFR1	P11362	p.Ser125Leu	VAR_042201	missense variant	-	NC_000008.11:g.38428420G>A	UniProt
FGFR1	P11362	p.Glu126Asp	rs758823379	missense variant	-	NC_000008.11:g.38428416C>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp127Val	rs1425815338	missense variant	-	NC_000008.11:g.38428414T>A	gnomAD
FGFR1	P11362	p.Asp127Glu	rs750795714	missense variant	-	NC_000008.11:g.38428413A>C	ExAC,gnomAD
FGFR1	P11362	p.Asp128Val	rs77734798	missense variant	-	NC_000008.11:g.38428411T>A	gnomAD
FGFR1	P11362	p.Asp128Gly	rs77734798	missense variant	-	NC_000008.11:g.38428411T>C	gnomAD
FGFR1	P11362	p.Asp128Ala	rs77734798	missense variant	-	NC_000008.11:g.38428411T>G	gnomAD
FGFR1	P11362	p.Asp129Ala	RCV000521203	missense variant	-	NC_000008.11:g.38428408T>G	ClinVar
FGFR1	P11362	p.Asp129Ala	rs765615419	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38428408T>G	UniProt,dbSNP
FGFR1	P11362	p.Asp129Ala	VAR_030973	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38428408T>G	UniProt
FGFR1	P11362	p.Asp129Ala	rs765615419	missense variant	-	NC_000008.11:g.38428408T>G	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp129Gly	rs765615419	missense variant	-	NC_000008.11:g.38428408T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp130Asn	rs757823218	missense variant	-	NC_000008.11:g.38428406C>T	ExAC,gnomAD
FGFR1	P11362	p.Asp130Val	rs1161536828	missense variant	-	NC_000008.11:g.38428405T>A	gnomAD
FGFR1	P11362	p.Asp132His	rs562958780	missense variant	-	NC_000008.11:g.38428400C>G	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp132Asn	rs562958780	missense variant	-	NC_000008.11:g.38428400C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp132Tyr	rs562958780	missense variant	-	NC_000008.11:g.38428400C>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp133His	rs1248111718	missense variant	-	NC_000008.11:g.38428397C>G	TOPMed,gnomAD
FGFR1	P11362	p.Asp133Glu	rs1213683426	missense variant	-	NC_000008.11:g.38428395G>T	TOPMed
FGFR1	P11362	p.Asp133Asn	rs1248111718	missense variant	-	NC_000008.11:g.38428397C>T	TOPMed,gnomAD
FGFR1	P11362	p.Ser134Ala	rs1181137021	missense variant	-	NC_000008.11:g.38428394A>C	gnomAD
FGFR1	P11362	p.Ser134Phe	rs760116083	missense variant	-	NC_000008.11:g.38428393G>A	ExAC,gnomAD
FGFR1	P11362	p.Ser134Tyr	rs760116083	missense variant	-	NC_000008.11:g.38428393G>T	ExAC,gnomAD
FGFR1	P11362	p.Ser135Thr	rs775228360	missense variant	-	NC_000008.11:g.38428391A>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ser135Phe	rs767034103	missense variant	-	NC_000008.11:g.38428390G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu137Asp	COSM5169532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38428383C>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Glu138Gly	rs1189578264	missense variant	-	NC_000008.11:g.38428381T>C	TOPMed
FGFR1	P11362	p.Lys139Glu	RCV000289001	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.38428379T>C	ClinVar
FGFR1	P11362	p.Lys139Glu	RCV000347374	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38428379T>C	ClinVar
FGFR1	P11362	p.Lys139Glu	RCV000386920	missense variant	-	NC_000008.11:g.38428379T>C	ClinVar
FGFR1	P11362	p.Lys139Glu	RCV000391006	missense variant	Nonsyndromic Trigonocephaly	NC_000008.11:g.38428379T>C	ClinVar
FGFR1	P11362	p.Lys139Glu	RCV000290110	missense variant	Pfeiffer syndrome (ACS5)	NC_000008.11:g.38428379T>C	ClinVar
FGFR1	P11362	p.Lys139Glu	rs201054877	missense variant	-	NC_000008.11:g.38428379T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Lys139Arg	rs770745123	missense variant	-	NC_000008.11:g.38428378T>C	ExAC,gnomAD
FGFR1	P11362	p.Thr141Arg	rs200482627	missense variant	-	NC_000008.11:g.38428372G>C	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Thr141Ala	rs1315551279	missense variant	-	NC_000008.11:g.38428373T>C	TOPMed,gnomAD
FGFR1	P11362	p.Asp142Glu	COSM4771179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38428368A>T	NCI-TCGA Cosmic
FGFR1	P11362	p.Thr144Asn	rs768880947	missense variant	-	NC_000008.11:g.38428363G>T	ExAC,gnomAD
FGFR1	P11362	p.Thr144Ala	rs773225979	missense variant	-	NC_000008.11:g.38428364T>C	ExAC,gnomAD
FGFR1	P11362	p.Arg148His	RCV000585124	missense variant	-	NC_000008.11:g.38428351C>T	ClinVar
FGFR1	P11362	p.Arg148His	rs515726222	missense variant	-	NC_000008.11:g.38428351C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg148Cys	rs780153672	missense variant	-	NC_000008.11:g.38428352G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro150His	rs751194353	missense variant	-	NC_000008.11:g.38428093G>T	ExAC
FGFR1	P11362	p.Pro150Ser	rs746094709	missense variant	-	NC_000008.11:g.38428346G>A	ExAC,gnomAD
FGFR1	P11362	p.Val151Ile	rs762665767	missense variant	-	NC_000008.11:g.38428091C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ala152Ser	rs1033377277	missense variant	-	NC_000008.11:g.38428088C>A	gnomAD
FGFR1	P11362	p.Ala152Thr	rs1033377277	missense variant	-	NC_000008.11:g.38428088C>T	gnomAD
FGFR1	P11362	p.Ala152Thr	RCV000625700	missense variant	Hartsfield syndrome	NC_000008.11:g.38428088C>T	ClinVar
FGFR1	P11362	p.Trp155Arg	RCV000301620	missense variant	-	NC_000008.11:g.38428079A>G	ClinVar
FGFR1	P11362	p.Trp155Arg	rs886042254	missense variant	-	NC_000008.11:g.38428079A>G	-
FGFR1	P11362	p.Pro158Leu	rs761727709	missense variant	-	NC_000008.11:g.38428069G>A	ExAC,gnomAD
FGFR1	P11362	p.Glu159Gly	rs776567959	missense variant	-	NC_000008.11:g.38428066T>C	ExAC,gnomAD
FGFR1	P11362	p.Lys164Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38428051T>C	NCI-TCGA
FGFR1	P11362	p.Leu165Ser	RCV000056314	missense variant	Hartsfield syndrome	NC_000008.11:g.38428048A>G	ClinVar
FGFR1	P11362	p.Leu165Ser	rs397515481	missense variant	Hartsfield syndrome (HRTFDS)	NC_000008.11:g.38428048A>G	UniProt,dbSNP
FGFR1	P11362	p.Leu165Ser	VAR_070851	missense variant	Hartsfield syndrome (HRTFDS)	NC_000008.11:g.38428048A>G	UniProt
FGFR1	P11362	p.Leu165Ser	rs397515481	missense variant	Hartsfield syndrome (hrtfds)	NC_000008.11:g.38428048A>G	-
FGFR1	P11362	p.Leu165Val	rs928639974	missense variant	-	NC_000008.11:g.38428049A>C	TOPMed
FGFR1	P11362	p.His166Tyr	rs772054562	missense variant	-	NC_000008.11:g.38428046G>A	ExAC,gnomAD
FGFR1	P11362	p.Ala167Ser	RCV000030929	missense variant	Hypogonadotropic hypogonadism 2 with anosmia	NC_000008.11:g.38428043C>A	ClinVar
FGFR1	P11362	p.Ala167Ser	rs121909630	missense variant	-	NC_000008.11:g.38428043C>A	-
FGFR1	P11362	p.Ala167Ser	rs121909630	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38428043C>A	UniProt,dbSNP
FGFR1	P11362	p.Ala167Ser	VAR_017887	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38428043C>A	UniProt
FGFR1	P11362	p.Pro169Leu	rs1413642890	missense variant	-	NC_000008.11:g.38428036G>A	gnomAD
FGFR1	P11362	p.Ala170Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38428034C>A	NCI-TCGA
FGFR1	P11362	p.Val174Ala	VAR_072995	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Lys177Glu	rs1172942794	missense variant	-	NC_000008.11:g.38428013T>C	TOPMed
FGFR1	P11362	p.Cys178Ser	VAR_030974	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Ser181Gly	rs1183624798	missense variant	-	NC_000008.11:g.38428001T>C	gnomAD
FGFR1	P11362	p.Leu188Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38427979A>T	NCI-TCGA
FGFR1	P11362	p.Arg189His	rs778166317	missense variant	-	NC_000008.11:g.38427976C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg189Cys	RCV000200962	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38427977G>A	ClinVar
FGFR1	P11362	p.Arg189Cys	rs863223331	missense variant	-	NC_000008.11:g.38427977G>A	-
FGFR1	P11362	p.Trp190Leu	rs1554567027	missense variant	-	NC_000008.11:g.38427973C>A	-
FGFR1	P11362	p.Trp190Leu	RCV000516914	missense variant	-	NC_000008.11:g.38427973C>A	ClinVar
FGFR1	P11362	p.Leu191Ser	RCV000208879	missense variant	Hartsfield syndrome	NC_000008.11:g.38427970A>G	ClinVar
FGFR1	P11362	p.Leu191Ser	rs869025669	missense variant	-	NC_000008.11:g.38427970A>G	-
FGFR1	P11362	p.Asn193LysPheSerTerUnk	COSM1456942	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.38427963_38427964insT	NCI-TCGA Cosmic
FGFR1	P11362	p.Asn193Asp	rs1348010838	missense variant	-	NC_000008.11:g.38427965T>C	gnomAD
FGFR1	P11362	p.Lys195Arg	rs770139002	missense variant	-	NC_000008.11:g.38427958T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu196Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.38427956C>A	NCI-TCGA
FGFR1	P11362	p.Phe197Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38427951G>C	NCI-TCGA
FGFR1	P11362	p.Pro199Thr	rs1260057072	missense variant	-	NC_000008.11:g.38427947G>T	gnomAD
FGFR1	P11362	p.Asp200Tyr	rs1240845932	missense variant	-	NC_000008.11:g.38427944C>A	gnomAD
FGFR1	P11362	p.Arg209Cys	RCV000662313	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38426242G>A	ClinVar
FGFR1	P11362	p.Arg209His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38426241C>T	NCI-TCGA
FGFR1	P11362	p.Arg209Cys	rs1554564353	missense variant	-	NC_000008.11:g.38426242G>A	-
FGFR1	P11362	p.Ala211Val	COSM1133830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38426235G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Trp213Gly	rs17851623	missense variant	-	NC_000008.11:g.38426230A>C	-
FGFR1	P11362	p.Trp213Gly	rs17851623	missense variant	-	NC_000008.11:g.38426230A>C	UniProt,dbSNP
FGFR1	P11362	p.Trp213Gly	VAR_030975	missense variant	-	NC_000008.11:g.38426230A>C	UniProt
FGFR1	P11362	p.Ile216Val	rs763771933	missense variant	-	NC_000008.11:g.38426221T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp218Asn	COSM1456937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38426215C>T	NCI-TCGA Cosmic
FGFR1	P11362	p.Asp224His	VAR_030976	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Gly226Ala	rs1246231808	missense variant	-	NC_000008.11:g.38426190C>G	gnomAD
FGFR1	P11362	p.Asn227Ser	rs762961614	missense variant	-	NC_000008.11:g.38426187T>C	ExAC,gnomAD
FGFR1	P11362	p.Tyr228Asp	VAR_069289	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Val232Leu	rs765537201	missense variant	-	NC_000008.11:g.38426173C>A	ExAC
FGFR1	P11362	p.Gly237Ser	rs121909635	missense variant	-	NC_000008.11:g.38426158C>T	-
FGFR1	P11362	p.Gly237Ser	rs121909635	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38426158C>T	UniProt,dbSNP
FGFR1	P11362	p.Gly237Ser	VAR_030978	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38426158C>T	UniProt
FGFR1	P11362	p.Gly237Ser	RCV000017684	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38426158C>T	ClinVar
FGFR1	P11362	p.Gly237Asp	VAR_030977	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Ser238Asn	rs761920009	missense variant	-	NC_000008.11:g.38426154C>T	ExAC,gnomAD
FGFR1	P11362	p.Ile239Val	rs777114323	missense variant	-	NC_000008.11:g.38426152T>C	ExAC,gnomAD
FGFR1	P11362	p.Ile239Thr	VAR_069290	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Asn240Ser	rs768900681	missense variant	-	NC_000008.11:g.38426148T>C	ExAC
FGFR1	P11362	p.Asn240Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38426149T>A	NCI-TCGA
FGFR1	P11362	p.Leu245Pro	VAR_030979	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Asp246Gly	rs771734626	missense variant	-	NC_000008.11:g.38426130T>C	ExAC,gnomAD
FGFR1	P11362	p.Val248Met	RCV000379458	missense variant	-	NC_000008.11:g.38426125C>T	ClinVar
FGFR1	P11362	p.Val248Met	rs186746130	missense variant	-	NC_000008.11:g.38426125C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu249Asp	rs1402339930	missense variant	-	NC_000008.11:g.38424698C>A	TOPMed,gnomAD
FGFR1	P11362	p.Glu249Asp	rs1402339930	missense variant	-	NC_000008.11:g.38424698C>G	TOPMed,gnomAD
FGFR1	P11362	p.Arg250Trp	COSM3900045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38424697G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Arg250Pro	RCV000223933	missense variant	-	NC_000008.11:g.38424696C>G	ClinVar
FGFR1	P11362	p.Arg250Gln	rs121909645	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38424696C>T	UniProt,dbSNP
FGFR1	P11362	p.Arg250Gln	VAR_069291	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38424696C>T	UniProt
FGFR1	P11362	p.Arg250Gln	RCV000030940	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38424696C>T	ClinVar
FGFR1	P11362	p.Arg250Pro	rs121909645	missense variant	-	NC_000008.11:g.38424696C>G	-
FGFR1	P11362	p.Arg250Trp	VAR_030980	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Ser251Phe	rs1064793120	missense variant	-	NC_000008.11:g.38424693G>A	-
FGFR1	P11362	p.Ser251Phe	RCV000481168	missense variant	-	NC_000008.11:g.38424693G>A	ClinVar
FGFR1	P11362	p.Pro252Thr	rs121913472	missense variant	-	NC_000008.11:g.38424691G>T	UniProt,dbSNP
FGFR1	P11362	p.Pro252Thr	VAR_042202	missense variant	-	NC_000008.11:g.38424691G>T	UniProt
FGFR1	P11362	p.Pro252Thr	rs121913472	missense variant	-	NC_000008.11:g.38424691G>T	-
FGFR1	P11362	p.Pro252Arg	rs121909627	missense variant	Pfeiffer syndrome (PS)	NC_000008.11:g.38424690G>C	UniProt,dbSNP
FGFR1	P11362	p.Pro252Arg	VAR_004111	missense variant	Pfeiffer syndrome (PS)	NC_000008.11:g.38424690G>C	UniProt
FGFR1	P11362	p.Pro252Arg	rs121909627	missense variant	Jackson-weiss syndrome (jws)	NC_000008.11:g.38424690G>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro252Arg	RCV000644520	missense variant	Pfeiffer syndrome (ACS5)	NC_000008.11:g.38424690G>C	ClinVar
FGFR1	P11362	p.Pro252Arg	RCV000017670	missense variant	Jackson-Weiss syndrome (JWS)	NC_000008.11:g.38424690G>C	ClinVar
FGFR1	P11362	p.Pro252Arg	RCV000017669	missense variant	Pfeiffer syndrome (ACS5)	NC_000008.11:g.38424690G>C	ClinVar
FGFR1	P11362	p.Pro252Thr	RCV000436130	missense variant	Neoplasm	NC_000008.11:g.38424691G>T	ClinVar
FGFR1	P11362	p.Arg254Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38424684C>T	NCI-TCGA
FGFR1	P11362	p.Arg254Gln	VAR_030981	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Ala259Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38424669G>A	NCI-TCGA
FGFR1	P11362	p.Pro262Leu	rs1196509455	missense variant	-	NC_000008.11:g.38424660G>A	TOPMed
FGFR1	P11362	p.Ala263Thr	RCV000268656	missense variant	-	NC_000008.11:g.38424658C>T	ClinVar
FGFR1	P11362	p.Ala263Ser	COSM1137869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38424658C>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Ala263Thr	RCV000275517	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.38424658C>T	ClinVar
FGFR1	P11362	p.Ala263Thr	RCV000366723	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38424658C>T	ClinVar
FGFR1	P11362	p.Ala263Thr	RCV000309645	missense variant	Pfeiffer syndrome (ACS5)	NC_000008.11:g.38424658C>T	ClinVar
FGFR1	P11362	p.Ala263Thr	rs747978107	missense variant	-	NC_000008.11:g.38424658C>T	ExAC,gnomAD
FGFR1	P11362	p.Ala263Thr	RCV000327189	missense variant	Nonsyndromic Trigonocephaly	NC_000008.11:g.38424658C>T	ClinVar
FGFR1	P11362	p.Asn264His	rs515726223	missense variant	-	NC_000008.11:g.38424655T>G	-
FGFR1	P11362	p.Asn264His	RCV000119058	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38424655T>G	ClinVar
FGFR1	P11362	p.Lys265Gln	rs754968289	missense variant	-	NC_000008.11:g.38424652T>G	ExAC,gnomAD
FGFR1	P11362	p.Ala268Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38424643C>T	NCI-TCGA
FGFR1	P11362	p.Gly270Asp	VAR_030982	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Val273Met	rs1131691929	missense variant	-	NC_000008.11:g.38424628C>T	gnomAD
FGFR1	P11362	p.Val273Met	rs1131691929	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38424628C>T	UniProt,dbSNP
FGFR1	P11362	p.Val273Met	VAR_030983	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38424628C>T	UniProt
FGFR1	P11362	p.Val273Met	RCV000492969	missense variant	-	NC_000008.11:g.38424628C>T	ClinVar
FGFR1	P11362	p.Glu274Gly	rs727505369	missense variant	-	NC_000008.11:g.38424624T>C	-
FGFR1	P11362	p.Glu274Gly	RCV000156951	missense variant	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)	NC_000008.11:g.38424624T>C	ClinVar
FGFR1	P11362	p.Glu274Gly	RCV000156952	missense variant	Delayed puberty	NC_000008.11:g.38424624T>C	ClinVar
FGFR1	P11362	p.Glu274Lys	rs1443012936	missense variant	-	NC_000008.11:g.38424625C>T	TOPMed
FGFR1	P11362	p.Glu274Ter	RCV000518169	frameshift	-	NC_000008.11:g.38424624del	ClinVar
FGFR1	P11362	p.Phe275Leu	rs1314424523	missense variant	-	NC_000008.11:g.38424620G>T	gnomAD
FGFR1	P11362	p.Met276Val	rs1394711867	missense variant	-	NC_000008.11:g.38424619T>C	gnomAD
FGFR1	P11362	p.Cys277Tyr	VAR_017888	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Val279Gly	RCV000483935	missense variant	-	NC_000008.11:g.38424609A>C	ClinVar
FGFR1	P11362	p.Val279Gly	rs1064793121	missense variant	-	NC_000008.11:g.38424609A>C	-
FGFR1	P11362	p.Ser281Asn	COSM3900033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38424603C>T	NCI-TCGA Cosmic
FGFR1	P11362	p.Pro283Arg	VAR_030985	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Gln284His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38424593C>A	NCI-TCGA
FGFR1	P11362	p.Pro285Ser	COSM2960503	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38424592G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Pro285Leu	rs779380483	missense variant	-	NC_000008.11:g.38424591G>A	gnomAD
FGFR1	P11362	p.Ile293Val	rs767977802	missense variant	-	NC_000008.11:g.38424568T>C	ExAC,gnomAD
FGFR1	P11362	p.Glu294Lys	RCV000608240	missense variant	Holoprosencephaly sequence (HPE)	NC_000008.11:g.38424565C>T	ClinVar
FGFR1	P11362	p.Glu294Lys	rs528376963	missense variant	-	NC_000008.11:g.38424565C>T	1000Genomes,ExAC,gnomAD
FGFR1	P11362	p.Lys299Gln	rs1396391500	missense variant	-	NC_000008.11:g.38424550T>G	TOPMed
FGFR1	P11362	p.Ile300Thr	rs121909633	missense variant	Trigonocephaly 1 (trigno1)	NC_000008.11:g.38424546A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ile300Thr	rs121909633	missense variant	Trigonocephaly 1 (TRIGNO1)	NC_000008.11:g.38424546A>G	UniProt,dbSNP
FGFR1	P11362	p.Ile300Thr	VAR_030986	missense variant	Trigonocephaly 1 (TRIGNO1)	NC_000008.11:g.38424546A>G	UniProt
FGFR1	P11362	p.Ile300Thr	RCV000502492	missense variant	-	NC_000008.11:g.38424546A>G	ClinVar
FGFR1	P11362	p.Ile300Thr	RCV000766015	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38424546A>G	ClinVar
FGFR1	P11362	p.Ile300Thr	RCV000514891	missense variant	-	NC_000008.11:g.38424546A>G	ClinVar
FGFR1	P11362	p.Gly301Asp	rs762320540	missense variant	-	NC_000008.11:g.38424543C>T	ExAC,gnomAD
FGFR1	P11362	p.Asn304Ser	rs896498971	missense variant	-	NC_000008.11:g.38424534T>C	TOPMed
FGFR1	P11362	p.Gln309Ter	COSM3648891	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.38424520G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Leu311Phe	COSM3779210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38424512C>G	NCI-TCGA Cosmic
FGFR1	P11362	p.Thr313Ser	rs1342243519	missense variant	-	NC_000008.11:g.38421940G>C	TOPMed
FGFR1	P11362	p.Ala314Val	rs755595684	missense variant	-	NC_000008.11:g.38421937G>A	ExAC,gnomAD
FGFR1	P11362	p.Val316Ala	rs1434741581	missense variant	-	NC_000008.11:g.38421931A>G	gnomAD
FGFR1	P11362	p.Asp320Asn	COSM1099642	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38421920C>T	NCI-TCGA Cosmic
FGFR1	P11362	p.Glu324_Arg822del	VAR_080328	inframe_deletion	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Val325Met	COSM3900029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38421905C>T	NCI-TCGA Cosmic
FGFR1	P11362	p.His327Tyr	rs759233744	missense variant	-	NC_000008.11:g.38421899G>A	ExAC,gnomAD
FGFR1	P11362	p.Asn330Ile	rs121909632	missense variant	Osteoglophonic dysplasia (ogd)	NC_000008.11:g.38421889T>A	gnomAD
FGFR1	P11362	p.Asn330Ile	rs121909632	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38421889T>A	UniProt,dbSNP
FGFR1	P11362	p.Asn330Ile	VAR_030987	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38421889T>A	UniProt
FGFR1	P11362	p.Asn330Ile	RCV000017678	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38421889T>A	ClinVar
FGFR1	P11362	p.Asn330Ser	rs121909632	missense variant	Osteoglophonic dysplasia (ogd)	NC_000008.11:g.38421889T>C	gnomAD
FGFR1	P11362	p.Ser332Phe	COSM3779206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38421883G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Ser332Cys	VAR_030988	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Ala336Ser	rs981703846	missense variant	-	NC_000008.11:g.38421872C>A	TOPMed,gnomAD
FGFR1	P11362	p.Ala336Thr	rs981703846	missense variant	-	NC_000008.11:g.38421872C>T	TOPMed,gnomAD
FGFR1	P11362	p.Gly337Glu	rs1064793122	missense variant	-	NC_000008.11:g.38421868C>T	-
FGFR1	P11362	p.Gly337Glu	RCV000478577	missense variant	-	NC_000008.11:g.38421868C>T	ClinVar
FGFR1	P11362	p.Tyr339Cys	VAR_030989	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Thr340Met	RCV000480479	missense variant	-	NC_000008.11:g.38421859G>A	ClinVar
FGFR1	P11362	p.Thr340Met	rs1064793123	missense variant	-	NC_000008.11:g.38421859G>A	-
FGFR1	P11362	p.Leu342Ser	RCV000030933	missense variant	Hypogonadotropic hypogonadism 2 with anosmia	NC_000008.11:g.38421853A>G	ClinVar
FGFR1	P11362	p.Leu342Ser	rs121909638	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38421853A>G	UniProt,dbSNP
FGFR1	P11362	p.Leu342Ser	VAR_069954	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38421853A>G	UniProt
FGFR1	P11362	p.Leu342Ser	rs121909638	missense variant	-	NC_000008.11:g.38421853A>G	-
FGFR1	P11362	p.Ala343Val	VAR_030990	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Ser346Ter	RCV000156958	frameshift	Delayed puberty	NC_000008.11:g.38421840_38421841AG[1]	ClinVar
FGFR1	P11362	p.Ser346Ter	RCV000156957	frameshift	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)	NC_000008.11:g.38421840_38421841AG[1]	ClinVar
FGFR1	P11362	p.Ser346Cys	VAR_030991	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Gly348Arg	RCV000319353	missense variant	-	NC_000008.11:g.38421836C>T	ClinVar
FGFR1	P11362	p.Gly348Arg	rs886037634	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38421836C>T	UniProt,dbSNP
FGFR1	P11362	p.Gly348Arg	VAR_069955	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38421836C>T	UniProt
FGFR1	P11362	p.Ser350Thr	rs764101526	missense variant	-	NC_000008.11:g.38421830A>T	ExAC,gnomAD
FGFR1	P11362	p.His351Tyr	rs1310331035	missense variant	-	NC_000008.11:g.38421827G>A	gnomAD
FGFR1	P11362	p.His352Arg	COSM3900025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38421823T>C	NCI-TCGA Cosmic
FGFR1	P11362	p.His352Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38421824G>A	NCI-TCGA
FGFR1	P11362	p.Ala353Thr	VAR_082843	Missense	-	-	UniProt
FGFR1	P11362	p.Trp355Ser	RCV000702519	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38421814C>G	ClinVar
FGFR1	P11362	p.Val358Ile	rs774768179	missense variant	-	NC_000008.11:g.38421806C>T	ExAC,gnomAD
FGFR1	P11362	p.Leu359Val	rs1380308168	missense variant	-	NC_000008.11:g.38421803G>C	gnomAD
FGFR1	P11362	p.Glu360Lys	RCV000484860	missense variant	-	NC_000008.11:g.38421800C>T	ClinVar
FGFR1	P11362	p.Glu360Lys	rs982371464	missense variant	-	NC_000008.11:g.38421800C>T	TOPMed,gnomAD
FGFR1	P11362	p.Ala361Asp	rs771811718	missense variant	-	NC_000008.11:g.38419735G>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Leu362Pro	rs768918396	missense variant	-	NC_000008.11:g.38419732A>G	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro366Ser	rs753838219	missense variant	-	NC_000008.11:g.38419721G>A	ExAC,gnomAD
FGFR1	P11362	p.Pro366Leu	rs121909641	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38419720G>A	UniProt,dbSNP
FGFR1	P11362	p.Pro366Leu	VAR_030992	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38419720G>A	UniProt
FGFR1	P11362	p.Pro366Leu	RCV000156970	missense variant	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)	NC_000008.11:g.38419720G>A	ClinVar
FGFR1	P11362	p.Pro366Leu	RCV000763182	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38419720G>A	ClinVar
FGFR1	P11362	p.Ala367Val	rs1324436328	missense variant	-	NC_000008.11:g.38419717G>A	TOPMed,gnomAD
FGFR1	P11362	p.Ala367Ser	rs756016701	missense variant	-	NC_000008.11:g.38419718C>A	ExAC,gnomAD
FGFR1	P11362	p.Val368Met	rs1317322082	missense variant	-	NC_000008.11:g.38419715C>T	gnomAD
FGFR1	P11362	p.Met369Ile	rs1404194266	missense variant	-	NC_000008.11:g.38419710C>A	gnomAD
FGFR1	P11362	p.Met369Ile	rs1404194266	missense variant	-	NC_000008.11:g.38419710C>T	gnomAD
FGFR1	P11362	p.Met369Lys	rs751688900	missense variant	-	NC_000008.11:g.38419711A>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Met369Thr	rs751688900	missense variant	-	NC_000008.11:g.38419711A>G	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ser371Leu	rs961818413	missense variant	-	NC_000008.11:g.38419705G>A	TOPMed
FGFR1	P11362	p.Pro372Ser	rs377648976	missense variant	-	NC_000008.11:g.38419703G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Tyr374Cys	rs121909631	missense variant	Osteoglophonic dysplasia (ogd)	NC_000008.11:g.38419696T>C	-
FGFR1	P11362	p.Tyr374Cys	rs121909631	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38419696T>C	UniProt,dbSNP
FGFR1	P11362	p.Tyr374Cys	VAR_030993	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38419696T>C	UniProt
FGFR1	P11362	p.Tyr374Cys	RCV000017679	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38419696T>C	ClinVar
FGFR1	P11362	p.Leu375Val	rs984502740	missense variant	-	NC_000008.11:g.38419694G>C	gnomAD
FGFR1	P11362	p.Ile379Thr	rs374135854	missense variant	-	NC_000008.11:g.38419681A>G	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Tyr380Cys	rs777103792	missense variant	-	NC_000008.11:g.38419678T>C	ExAC,gnomAD
FGFR1	P11362	p.Tyr380His	RCV000729386	missense variant	-	NC_000008.11:g.38419679A>G	ClinVar
FGFR1	P11362	p.Cys381Arg	rs121909634	missense variant	Osteoglophonic dysplasia (ogd)	NC_000008.11:g.38419676A>G	-
FGFR1	P11362	p.Cys381Arg	rs121909634	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38419676A>G	UniProt,dbSNP
FGFR1	P11362	p.Cys381Arg	VAR_030994	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38419676A>G	UniProt
FGFR1	P11362	p.Cys381Arg	RCV000017682	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38419676A>G	ClinVar
FGFR1	P11362	p.Thr382Ile	rs1028642828	missense variant	-	NC_000008.11:g.38419672G>A	-
FGFR1	P11362	p.Gly383Ala	rs1288519915	missense variant	-	NC_000008.11:g.38419669C>G	gnomAD
FGFR1	P11362	p.Ala384Ser	rs1210327784	missense variant	-	NC_000008.11:g.38419667C>A	TOPMed,gnomAD
FGFR1	P11362	p.Ala384Pro	rs1210327784	missense variant	-	NC_000008.11:g.38419667C>G	TOPMed,gnomAD
FGFR1	P11362	p.Leu386Phe	rs761247988	missense variant	-	NC_000008.11:g.38419661G>A	ExAC,gnomAD
FGFR1	P11362	p.Ile387Val	rs768687116	missense variant	-	NC_000008.11:g.38419658T>C	ExAC,gnomAD
FGFR1	P11362	p.Ser388Phe	rs370205081	missense variant	-	NC_000008.11:g.38419654G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Met390Val	rs376921992	missense variant	-	NC_000008.11:g.38419649T>C	ESP,ExAC,gnomAD
FGFR1	P11362	p.Val391Ala	rs527372786	missense variant	-	NC_000008.11:g.38419645A>G	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Val391Met	rs202073071	missense variant	-	NC_000008.11:g.38419646C>T	TOPMed,gnomAD
FGFR1	P11362	p.Val391Leu	rs202073071	missense variant	-	NC_000008.11:g.38419646C>A	TOPMed,gnomAD
FGFR1	P11362	p.Ser393Leu	rs369059499	missense variant	-	NC_000008.11:g.38419639G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Val396Ile	rs752627281	missense variant	-	NC_000008.11:g.38419631C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Tyr397His	rs1395234901	missense variant	-	NC_000008.11:g.38419628A>G	gnomAD
FGFR1	P11362	p.Lys398Glu	rs1164263883	missense variant	-	NC_000008.11:g.38419625T>C	gnomAD
FGFR1	P11362	p.Lys398Arg	rs1473969370	missense variant	-	NC_000008.11:g.38419624T>C	gnomAD
FGFR1	P11362	p.Met399Val	rs1416395686	missense variant	-	NC_000008.11:g.38419622T>C	TOPMed,gnomAD
FGFR1	P11362	p.Ser401Thr	rs1187822240	missense variant	-	NC_000008.11:g.38419615C>G	gnomAD
FGFR1	P11362	p.His409Gln	rs758359914	missense variant	-	NC_000008.11:g.38419590G>C	ExAC,gnomAD
FGFR1	P11362	p.Ser410Gly	rs1441745837	missense variant	-	NC_000008.11:g.38419589T>C	TOPMed
FGFR1	P11362	p.Ser410Asn	rs750688817	missense variant	-	NC_000008.11:g.38419588C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Met412Val	rs765415311	missense variant	-	NC_000008.11:g.38419583T>C	ExAC,gnomAD
FGFR1	P11362	p.Val414Met	rs1210272196	missense variant	-	NC_000008.11:g.38419577C>T	gnomAD
FGFR1	P11362	p.Ala418Val	rs1271245426	missense variant	-	NC_000008.11:g.38419564G>A	gnomAD
FGFR1	P11362	p.Lys419Arg	rs1232639613	missense variant	-	NC_000008.11:g.38419561T>C	gnomAD
FGFR1	P11362	p.Lys419Glu	COSM3648875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38419562T>C	NCI-TCGA Cosmic
FGFR1	P11362	p.Ser420Asn	rs1289681665	missense variant	-	NC_000008.11:g.38419558C>T	TOPMed,gnomAD
FGFR1	P11362	p.Ile421Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38419555A>G	NCI-TCGA
FGFR1	P11362	p.Arg424His	rs183376882	missense variant	-	NC_000008.11:g.38419546C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg424Cys	rs369096310	missense variant	-	NC_000008.11:g.38419547G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg425Ile	rs767080647	missense variant	-	NC_000008.11:g.38419543C>A	ExAC,gnomAD
FGFR1	P11362	p.Ser430Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38418369G>A	NCI-TCGA
FGFR1	P11362	p.Ala431Thr	rs1302224608	missense variant	-	NC_000008.11:g.38418367C>T	gnomAD
FGFR1	P11362	p.Ser434Gly	rs375914079	missense variant	-	NC_000008.11:g.38418358T>C	ESP,TOPMed
FGFR1	P11362	p.Ser434Arg	rs772794963	missense variant	-	NC_000008.11:g.38418356A>C	ExAC,gnomAD
FGFR1	P11362	p.Ala435Val	rs769607850	missense variant	-	NC_000008.11:g.38418354G>A	ExAC,gnomAD
FGFR1	P11362	p.Ser436Phe	COSM4162977	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38418351G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Ser436Cys	rs747976513	missense variant	-	NC_000008.11:g.38418351G>C	ExAC,gnomAD
FGFR1	P11362	p.Ser439Cys	rs768532728	missense variant	-	NC_000008.11:g.38418342G>C	ExAC,gnomAD
FGFR1	P11362	p.Gly440Glu	rs372654433	missense variant	-	NC_000008.11:g.38418339C>T	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Val441Phe	rs778861510	missense variant	-	NC_000008.11:g.38418337C>A	ExAC,gnomAD
FGFR1	P11362	p.Val441Ter	RCV000030935	frameshift	Hypogonadotropic hypogonadism 2 with anosmia	NC_000008.11:g.38418340_38418341del	ClinVar
FGFR1	P11362	p.Val441Ile	rs778861510	missense variant	-	NC_000008.11:g.38418337C>T	ExAC,gnomAD
FGFR1	P11362	p.Leu442Val	rs778104598	missense variant	-	NC_000008.11:g.38418334G>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Leu442Phe	rs778104598	missense variant	-	NC_000008.11:g.38418334G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Leu443Pro	rs756375285	missense variant	-	NC_000008.11:g.38418330A>G	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg445Gln	rs367715495	missense variant	-	NC_000008.11:g.38418324C>T	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg445Trp	rs781608303	missense variant	-	NC_000008.11:g.38418325G>A	ExAC,gnomAD
FGFR1	P11362	p.Pro446Ser	rs752038121	missense variant	-	NC_000008.11:g.38418322G>A	ExAC,gnomAD
FGFR1	P11362	p.Pro446Leu	rs765888792	missense variant	-	NC_000008.11:g.38418321G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg448Trp	rs749903780	missense variant	-	NC_000008.11:g.38418316G>A	ExAC,gnomAD
FGFR1	P11362	p.Arg448Leu	rs758138124	missense variant	-	NC_000008.11:g.38418315C>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg448Gln	RCV000540340	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38418315C>T	ClinVar
FGFR1	P11362	p.Arg448Gln	rs758138124	missense variant	-	NC_000008.11:g.38418315C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg448Gln	RCV000757294	missense variant	-	NC_000008.11:g.38418315C>T	ClinVar
FGFR1	P11362	p.Ser451Cys	rs374672119	missense variant	-	NC_000008.11:g.38418306G>C	ESP,TOPMed,gnomAD
FGFR1	P11362	p.Ser451Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38418306G>A	NCI-TCGA
FGFR1	P11362	p.Ser452Arg	rs948384958	missense variant	-	NC_000008.11:g.38418304T>G	gnomAD
FGFR1	P11362	p.Ser452Cys	rs948384958	missense variant	-	NC_000008.11:g.38418304T>A	gnomAD
FGFR1	P11362	p.Pro455Ala	rs575766741	missense variant	-	NC_000008.11:g.38418295G>C	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro455Ser	rs575766741	missense variant	-	NC_000008.11:g.38418295G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Met456Ile	rs200776757	missense variant	-	NC_000008.11:g.38418290C>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Met456Ile	RCV000408775	missense variant	Craniosynostosis, nonspecific	NC_000008.11:g.38418290C>A	ClinVar
FGFR1	P11362	p.Met456Val	rs768428215	missense variant	-	NC_000008.11:g.38418292T>C	ExAC,gnomAD
FGFR1	P11362	p.Ala458Thr	rs985869735	missense variant	-	NC_000008.11:g.38418286C>T	TOPMed
FGFR1	P11362	p.Gly459Ala	rs1463733617	missense variant	-	NC_000008.11:g.38418282C>G	gnomAD
FGFR1	P11362	p.Gly459Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38418283C>T	NCI-TCGA
FGFR1	P11362	p.Val460Ile	rs775445657	missense variant	-	NC_000008.11:g.38418280C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Val460Phe	rs775445657	missense variant	-	NC_000008.11:g.38418280C>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ser461Phe	COSM3648865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38418276G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Glu462Gly	rs367955950	missense variant	-	NC_000008.11:g.38418273T>C	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Tyr463Cys	rs746082633	missense variant	-	NC_000008.11:g.38418270T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Leu465Ile	rs1189940197	missense variant	-	NC_000008.11:g.38418265G>T	gnomAD
FGFR1	P11362	p.Pro466Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38418261G>A	NCI-TCGA
FGFR1	P11362	p.Glu467Lys	rs923019674	missense variant	-	NC_000008.11:g.38418259C>T	TOPMed,gnomAD
FGFR1	P11362	p.Arg470Cys	rs781310679	missense variant	-	NC_000008.11:g.38418250G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg470His	rs121909637	missense variant	-	NC_000008.11:g.38418249C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg470Pro	COSM1137868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38418249C>G	NCI-TCGA Cosmic
FGFR1	P11362	p.Arg470Leu	RCV000030932	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38418249C>A	ClinVar
FGFR1	P11362	p.Arg470Leu	rs121909637	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38418249C>A	UniProt,dbSNP
FGFR1	P11362	p.Arg470Leu	VAR_069292	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38418249C>A	UniProt
FGFR1	P11362	p.Arg470Leu	rs121909637	missense variant	-	NC_000008.11:g.38418249C>A	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Leu473Val	rs780577173	missense variant	-	NC_000008.11:g.38418241G>C	ExAC
FGFR1	P11362	p.Pro474Ala	rs575227358	missense variant	-	NC_000008.11:g.38418238G>C	1000Genomes,ExAC,gnomAD
FGFR1	P11362	p.Arg475Gln	RCV000514316	missense variant	-	NC_000008.11:g.38418234C>T	ClinVar
FGFR1	P11362	p.Arg475Trp	COSM3900015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38418235G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Arg475Gln	rs747333248	missense variant	-	NC_000008.11:g.38418234C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg477Lys	rs1275391593	missense variant	-	NC_000008.11:g.38418228C>T	gnomAD
FGFR1	P11362	p.Gly481Ser	rs778403497	missense variant	-	NC_000008.11:g.38417981C>T	ExAC,gnomAD
FGFR1	P11362	p.Pro483Thr	rs397515444	missense variant	-	NC_000008.11:g.38417975G>T	ExAC,gnomAD
FGFR1	P11362	p.Pro483Thr	rs397515444	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38417975G>T	UniProt,dbSNP
FGFR1	P11362	p.Pro483Thr	VAR_069956	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38417975G>T	UniProt
FGFR1	P11362	p.Pro483Arg	rs753460572	missense variant	-	NC_000008.11:g.38417974G>C	ExAC,gnomAD
FGFR1	P11362	p.Pro483Leu	COSM3648850	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38417974G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Pro483Thr	RCV000043589	missense variant	Hypogonadotropic hypogonadism 2 with anosmia	NC_000008.11:g.38417975G>T	ClinVar
FGFR1	P11362	p.Pro483Ser	rs397515444	missense variant	-	NC_000008.11:g.38417975G>A	ExAC,gnomAD
FGFR1	P11362	p.Gly485Val	rs876661332	missense variant	-	NC_000008.11:g.38417968C>A	-
FGFR1	P11362	p.Gly485Ala	COSM1314030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38417968C>G	NCI-TCGA Cosmic
FGFR1	P11362	p.Gly485Val	RCV000223739	missense variant	Hartsfield syndrome	NC_000008.11:g.38417968C>A	ClinVar
FGFR1	P11362	p.Gly487Asp	RCV000591024	missense variant	Hartsfield syndrome	NC_000008.11:g.38417962C>T	ClinVar
FGFR1	P11362	p.Gly487Asp	RCV000119059	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38417962C>T	ClinVar
FGFR1	P11362	p.Gly487Asp	rs515726224	missense variant	-	NC_000008.11:g.38417962C>T	-
FGFR1	P11362	p.Gly490Arg	rs869025670	missense variant	-	NC_000008.11:g.38417954C>T	-
FGFR1	P11362	p.Gly490Arg	RCV000208875	missense variant	Hartsfield syndrome	NC_000008.11:g.38417954C>G	ClinVar
FGFR1	P11362	p.Gly490Arg	RCV000417937	missense variant	-	NC_000008.11:g.38417954C>T	ClinVar
FGFR1	P11362	p.Gly490Arg	rs869025670	missense variant	-	NC_000008.11:g.38417954C>G	-
FGFR1	P11362	p.Val493Met	rs752601407	missense variant	-	NC_000008.11:g.38417945C>T	ExAC,gnomAD
FGFR1	P11362	p.Ala497Val	rs1192215028	missense variant	-	NC_000008.11:g.38417932G>A	gnomAD
FGFR1	P11362	p.Ala497Pro	rs938924493	missense variant	-	NC_000008.11:g.38417933C>G	gnomAD
FGFR1	P11362	p.Ala497Thr	rs938924493	missense variant	-	NC_000008.11:g.38417933C>T	gnomAD
FGFR1	P11362	p.Ile498Val	rs767419329	missense variant	-	NC_000008.11:g.38417930T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Gly499Arg	rs759552236	missense variant	-	NC_000008.11:g.38417927C>T	ExAC,gnomAD
FGFR1	P11362	p.Gly499Glu	rs1485152215	missense variant	-	NC_000008.11:g.38417926C>T	gnomAD
FGFR1	P11362	p.Leu500Val	rs1260234772	missense variant	-	NC_000008.11:g.38417924G>C	gnomAD
FGFR1	P11362	p.Asp501Gly	rs1233979323	missense variant	-	NC_000008.11:g.38417920T>C	gnomAD
FGFR1	P11362	p.Asp503Glu	rs372521005	missense variant	-	NC_000008.11:g.38417913G>C	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asn506Ser	rs572845338	missense variant	-	NC_000008.11:g.38417905T>C	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asn506Thr	rs572845338	missense variant	-	NC_000008.11:g.38417905T>G	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg507His	RCV000498726	missense variant	-	NC_000008.11:g.38417902C>T	ClinVar
FGFR1	P11362	p.Arg507His	rs369356672	missense variant	-	NC_000008.11:g.38417902C>T	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg507Ser	rs776549085	missense variant	-	NC_000008.11:g.38417903G>T	ExAC,gnomAD
FGFR1	P11362	p.Arg507Cys	rs776549085	missense variant	-	NC_000008.11:g.38417903G>A	ExAC,gnomAD
FGFR1	P11362	p.Ala512Gly	rs1440198956	missense variant	-	NC_000008.11:g.38417887G>C	TOPMed
FGFR1	P11362	p.Val513Gly	rs77988343	missense variant	-	NC_000008.11:g.38417884A>C	ExAC,gnomAD
FGFR1	P11362	p.Val513Met	rs1085307722	missense variant	-	NC_000008.11:g.38417885C>T	-
FGFR1	P11362	p.Val513Ala	rs77988343	missense variant	-	NC_000008.11:g.38417884A>G	ExAC,gnomAD
FGFR1	P11362	p.Val513Met	RCV000489322	missense variant	-	NC_000008.11:g.38417885C>T	ClinVar
FGFR1	P11362	p.Met515Val	RCV000419230	missense variant	Adenocarcinoma of stomach	NC_000008.11:g.38417879T>C	ClinVar
FGFR1	P11362	p.Met515Val	RCV000436467	missense variant	Neuroblastoma (NBLST1)	NC_000008.11:g.38417879T>C	ClinVar
FGFR1	P11362	p.Met515Val	RCV000418590	missense variant	Medulloblastoma (MDB)	NC_000008.11:g.38417879T>C	ClinVar
FGFR1	P11362	p.Met515Val	RCV000435727	missense variant	Astrocytoma	NC_000008.11:g.38417879T>C	ClinVar
FGFR1	P11362	p.Met515Val	RCV000429290	missense variant	-	NC_000008.11:g.38417879T>C	ClinVar
FGFR1	P11362	p.Met515Thr	rs746392282	missense variant	-	NC_000008.11:g.38417878A>G	ExAC,gnomAD
FGFR1	P11362	p.Met515Val	rs1057519899	missense variant	-	NC_000008.11:g.38417879T>C	-
FGFR1	P11362	p.Ser518Leu	rs774678297	missense variant	-	NC_000008.11:g.38417416G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ala520Thr	rs749758370	missense variant	-	NC_000008.11:g.38417411C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ala520Thr	rs749758370	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38417411C>T	UniProt,dbSNP
FGFR1	P11362	p.Ala520Thr	VAR_030995	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38417411C>T	UniProt
FGFR1	P11362	p.Asp524Ala	rs1255503690	missense variant	-	NC_000008.11:g.38417398T>G	gnomAD
FGFR1	P11362	p.Ser530Ter	rs1554551706	stop gained	-	NC_000008.11:g.38417380G>T	-
FGFR1	P11362	p.Ser530Ter	RCV000627342	nonsense	-	NC_000008.11:g.38417380G>T	ClinVar
FGFR1	P11362	p.Met532Thr	RCV000481922	missense variant	-	NC_000008.11:g.38417374A>G	ClinVar
FGFR1	P11362	p.Met532Thr	rs777345476	missense variant	-	NC_000008.11:g.38417374A>G	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Met534Val	rs530348127	missense variant	-	NC_000008.11:g.38417369T>C	1000Genomes,TOPMed,gnomAD
FGFR1	P11362	p.Met535Lys	RCV000591009	missense variant	Hartsfield syndrome	NC_000008.11:g.38417365A>T	ClinVar
FGFR1	P11362	p.Met535Lys	rs1554551667	missense variant	-	NC_000008.11:g.38417365A>T	-
FGFR1	P11362	p.Met537Val	rs769129551	missense variant	-	NC_000008.11:g.38417360T>C	ExAC,gnomAD
FGFR1	P11362	p.Ile538Met	rs747825610	missense variant	-	NC_000008.11:g.38417355G>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ile538Thr	COSM1456917	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38417356A>G	NCI-TCGA Cosmic
FGFR1	P11362	p.Ile538Val	VAR_030996	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Gly539Glu	rs780953869	missense variant	-	NC_000008.11:g.38417353C>T	ExAC,gnomAD
FGFR1	P11362	p.Gly539Arg	rs201158796	missense variant	-	NC_000008.11:g.38417354C>T	gnomAD
FGFR1	P11362	p.Gly539Arg	RCV000369604	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.38417354C>T	ClinVar
FGFR1	P11362	p.Gly539Arg	RCV000298552	missense variant	-	NC_000008.11:g.38417354C>T	ClinVar
FGFR1	P11362	p.Gly539Arg	RCV000329967	missense variant	Pfeiffer syndrome (ACS5)	NC_000008.11:g.38417354C>T	ClinVar
FGFR1	P11362	p.Gly539Arg	RCV000259751	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38417354C>T	ClinVar
FGFR1	P11362	p.Gly539Arg	RCV000277344	missense variant	Nonsyndromic Trigonocephaly	NC_000008.11:g.38417354C>T	ClinVar
FGFR1	P11362	p.Lys540Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38417350T>G	NCI-TCGA
FGFR1	P11362	p.His541Tyr	rs559692139	missense variant	-	NC_000008.11:g.38417348G>A	1000Genomes,ExAC,gnomAD
FGFR1	P11362	p.Ile545Leu	rs1336044788	missense variant	-	NC_000008.11:g.38417336T>G	gnomAD
FGFR1	P11362	p.Asn546Lys	RCV000487433	missense variant	-	NC_000008.11:g.38417331G>T	ClinVar
FGFR1	P11362	p.Asn546Asp	RCV000443832	missense variant	Adenocarcinoma of stomach	NC_000008.11:g.38417333T>C	ClinVar
FGFR1	P11362	p.Asn546Asp	RCV000424432	missense variant	Astrocytoma	NC_000008.11:g.38417333T>C	ClinVar
FGFR1	P11362	p.Asn546Asp	RCV000435153	missense variant	-	NC_000008.11:g.38417333T>C	ClinVar
FGFR1	P11362	p.Asn546Asp	RCV000443693	missense variant	Medulloblastoma (MDB)	NC_000008.11:g.38417333T>C	ClinVar
FGFR1	P11362	p.Asn546Asp	RCV000425019	missense variant	Neuroblastoma (NBLST1)	NC_000008.11:g.38417333T>C	ClinVar
FGFR1	P11362	p.Asn546Asp	rs1057519898	missense variant	-	NC_000008.11:g.38417333T>C	-
FGFR1	P11362	p.Asn546Lys	rs779707422	missense variant	-	NC_000008.11:g.38417331G>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Leu547Val	rs758360392	missense variant	-	NC_000008.11:g.38417330G>C	ExAC,gnomAD
FGFR1	P11362	p.Cys551Ser	rs764252845	missense variant	-	NC_000008.11:g.38417317C>G	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Thr552Met	rs760702592	missense variant	-	NC_000008.11:g.38417314G>A	ExAC,gnomAD
FGFR1	P11362	p.Gln553His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38417310C>A	NCI-TCGA
FGFR1	P11362	p.Asp554Asn	RCV000437928	missense variant	-	NC_000008.11:g.38417309C>T	ClinVar
FGFR1	P11362	p.Asp554Asn	rs1057524808	missense variant	-	NC_000008.11:g.38417309C>T	-
FGFR1	P11362	p.Gly555Val	rs1340570003	missense variant	-	NC_000008.11:g.38416060C>A	TOPMed
FGFR1	P11362	p.Pro556Leu	rs1243758431	missense variant	-	NC_000008.11:g.38416057G>A	gnomAD
FGFR1	P11362	p.Leu557Phe	RCV000722312	missense variant	-	NC_000008.11:g.38416053C>A	ClinVar
FGFR1	P11362	p.Ile560Thr	rs762402991	missense variant	-	NC_000008.11:g.38416045A>G	ExAC,gnomAD
FGFR1	P11362	p.Val561Met	VAR_075854	Missense	-	-	UniProt
FGFR1	P11362	p.Ser565Phe	rs768223019	missense variant	-	NC_000008.11:g.38416030G>A	ExAC,gnomAD
FGFR1	P11362	p.Ser565Cys	rs768223019	missense variant	-	NC_000008.11:g.38416030G>C	ExAC,gnomAD
FGFR1	P11362	p.Lys566Arg	rs531903077	missense variant	-	NC_000008.11:g.38416027T>C	1000Genomes,gnomAD
FGFR1	P11362	p.Arg570Gln	rs1399523084	missense variant	-	NC_000008.11:g.38416015C>T	gnomAD
FGFR1	P11362	p.Glu571Ter	RCV000449624	frameshift	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38416015del	ClinVar
FGFR1	P11362	p.Glu571Lys	rs771720144	missense variant	-	NC_000008.11:g.38416013C>T	ExAC,gnomAD
FGFR1	P11362	p.Gln574His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38416002C>A	NCI-TCGA
FGFR1	P11362	p.Gln574Arg	rs903239767	missense variant	-	NC_000008.11:g.38416003T>C	TOPMed
FGFR1	P11362	p.Arg576Gln	rs1482868825	missense variant	-	NC_000008.11:g.38415997C>T	TOPMed
FGFR1	P11362	p.Pro579Leu	rs1175162486	missense variant	-	NC_000008.11:g.38415988G>A	gnomAD
FGFR1	P11362	p.Gly580Trp	rs1410298719	missense variant	-	NC_000008.11:g.38415986C>A	gnomAD
FGFR1	P11362	p.Cys584Trp	rs745696130	missense variant	-	NC_000008.11:g.38415972G>C	ExAC,gnomAD
FGFR1	P11362	p.Tyr585His	rs1477426230	missense variant	-	NC_000008.11:g.38415971A>G	gnomAD
FGFR1	P11362	p.Asn586Ile	rs757254917	missense variant	-	NC_000008.11:g.38415967T>A	ExAC,gnomAD
FGFR1	P11362	p.Asn586Thr	rs757254917	missense variant	-	NC_000008.11:g.38415967T>G	ExAC,gnomAD
FGFR1	P11362	p.Ser588Ter	RCV000414346	frameshift	-	NC_000008.11:g.38415955_38415965del	ClinVar
FGFR1	P11362	p.His589Gln	rs1484524877	missense variant	-	NC_000008.11:g.38415957G>T	gnomAD
FGFR1	P11362	p.Asn590Asp	rs1271149897	missense variant	-	NC_000008.11:g.38415956T>C	TOPMed
FGFR1	P11362	p.Pro591Leu	rs781268209	missense variant	-	NC_000008.11:g.38415952G>A	ExAC,gnomAD
FGFR1	P11362	p.Glu592Lys	rs755002934	missense variant	-	NC_000008.11:g.38415950C>T	ExAC,gnomAD
FGFR1	P11362	p.Glu592Ala	rs751840290	missense variant	-	NC_000008.11:g.38415949T>G	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu592Gly	rs751840290	missense variant	-	NC_000008.11:g.38415949T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu593Lys	rs1271277323	missense variant	-	NC_000008.11:g.38415947C>T	gnomAD
FGFR1	P11362	p.Gln594Arg	rs1373408534	missense variant	-	NC_000008.11:g.38415943T>C	TOPMed
FGFR1	P11362	p.Ser596Tyr	rs1463369542	missense variant	-	NC_000008.11:g.38415937G>T	TOPMed
FGFR1	P11362	p.Lys598Thr	rs1336034253	missense variant	-	NC_000008.11:g.38415931T>G	TOPMed,gnomAD
FGFR1	P11362	p.Ser602Phe	COSM3648840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38415919G>A	NCI-TCGA Cosmic
FGFR1	P11362	p.Cys603Ser	rs1424914793	missense variant	-	NC_000008.11:g.38415916C>G	TOPMed
FGFR1	P11362	p.Ala604Thr	rs1412996644	missense variant	-	NC_000008.11:g.38415914C>T	gnomAD
FGFR1	P11362	p.Val607Met	RCV000030927	missense variant	Hypogonadotropic hypogonadism 2 with anosmia	NC_000008.11:g.38415905C>T	ClinVar
FGFR1	P11362	p.Val607Met	rs121909629	missense variant	-	NC_000008.11:g.38415905C>T	-
FGFR1	P11362	p.Val607Met	rs121909629	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38415905C>T	UniProt,dbSNP
FGFR1	P11362	p.Val607Met	VAR_017889	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38415905C>T	UniProt
FGFR1	P11362	p.Arg609Gln	rs765629435	missense variant	-	NC_000008.11:g.38415898C>T	ExAC,gnomAD
FGFR1	P11362	p.Arg609Ter	RCV000478244	nonsense	-	NC_000008.11:g.38415899G>A	ClinVar
FGFR1	P11362	p.Arg609Ter	RCV000500417	nonsense	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38415899G>A	ClinVar
FGFR1	P11362	p.Gly610Asp	COSM260938	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38415895C>T	NCI-TCGA Cosmic
FGFR1	P11362	p.Glu612Gln	rs1343172545	missense variant	-	NC_000008.11:g.38415890C>G	TOPMed
FGFR1	P11362	p.Tyr613Cys	RCV000484557	missense variant	-	NC_000008.11:g.38415886T>C	ClinVar
FGFR1	P11362	p.Tyr613Cys	rs1064793124	missense variant	-	NC_000008.11:g.38415886T>C	-
FGFR1	P11362	p.Tyr613Ter	rs1554549628	stop gained	-	NC_000008.11:g.38415885A>C	-
FGFR1	P11362	p.Tyr613Ter	RCV000521212	nonsense	-	NC_000008.11:g.38415885A>C	ClinVar
FGFR1	P11362	p.Ala615Ser	rs777228638	missense variant	-	NC_000008.11:g.38415881C>A	ExAC,gnomAD
FGFR1	P11362	p.Lys618Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38415870C>A	NCI-TCGA
FGFR1	P11362	p.Lys618Asn	VAR_069293	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.His621Arg	VAR_030997	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Arg622Gly	RCV000255867	missense variant	-	NC_000008.11:g.38414892G>C	ClinVar
FGFR1	P11362	p.Arg622Ter	RCV000156953	nonsense	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)	NC_000008.11:g.38414892G>A	ClinVar
FGFR1	P11362	p.Arg622Ter	RCV000156954	nonsense	Delayed puberty	NC_000008.11:g.38414892G>A	ClinVar
FGFR1	P11362	p.Arg622Gly	rs121909628	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414892G>C	UniProt,dbSNP
FGFR1	P11362	p.Arg622Gly	VAR_030998	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414892G>C	UniProt
FGFR1	P11362	p.Arg622_Arg822del	VAR_080329	inframe_deletion	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Arg622Gln	VAR_030999	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Asp623Glu	rs780009859	missense variant	-	NC_000008.11:g.38414887G>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp623Glu	RCV000625696	missense variant	Hartsfield syndrome	NC_000008.11:g.38414887G>C	ClinVar
FGFR1	P11362	p.Asp623Tyr	RCV000056315	missense variant	Hartsfield syndrome	NC_000008.11:g.38414889C>A	ClinVar
FGFR1	P11362	p.Asp623Tyr	rs398122946	missense variant	Hartsfield syndrome (HRTFDS)	NC_000008.11:g.38414889C>A	UniProt,dbSNP
FGFR1	P11362	p.Asp623Tyr	VAR_070854	missense variant	Hartsfield syndrome (HRTFDS)	NC_000008.11:g.38414889C>A	UniProt
FGFR1	P11362	p.Asp623Tyr	rs398122946	missense variant	Hartsfield syndrome (hrtfds)	NC_000008.11:g.38414889C>A	-
FGFR1	P11362	p.Arg627Ser	RCV000779636	missense variant	Hartsfield syndrome	NC_000008.11:g.38414875C>G	ClinVar
FGFR1	P11362	p.Arg627Thr	RCV000208873	missense variant	Hartsfield syndrome	NC_000008.11:g.38414876C>G	ClinVar
FGFR1	P11362	p.Arg627Thr	rs869025671	missense variant	-	NC_000008.11:g.38414876C>G	-
FGFR1	P11362	p.Asn628Lys	RCV000208876	missense variant	Hartsfield syndrome	NC_000008.11:g.38414872A>C	ClinVar
FGFR1	P11362	p.Asn628Lys	rs869025672	missense variant	-	NC_000008.11:g.38414872A>C	TOPMed,gnomAD
FGFR1	P11362	p.Val629Leu	COSM1137867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38414871C>G	NCI-TCGA Cosmic
FGFR1	P11362	p.Asn635Ile	rs544967630	missense variant	-	NC_000008.11:g.38414852T>A	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asn635Ser	rs544967630	missense variant	-	NC_000008.11:g.38414852T>C	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ile639Thr	rs727505370	missense variant	-	NC_000008.11:g.38414840A>G	-
FGFR1	P11362	p.Ile639Thr	RCV000156955	missense variant	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)	NC_000008.11:g.38414840A>G	ClinVar
FGFR1	P11362	p.Ile639Thr	RCV000156956	missense variant	Delayed puberty	NC_000008.11:g.38414840A>G	ClinVar
FGFR1	P11362	p.Asp641Asn	RCV000614143	missense variant	Hartsfield syndrome	NC_000008.11:g.38414835C>T	ClinVar
FGFR1	P11362	p.Asp641Asn	rs1554548253	missense variant	-	NC_000008.11:g.38414835C>T	-
FGFR1	P11362	p.Gly643Asp	rs876661333	missense variant	-	NC_000008.11:g.38414828C>T	-
FGFR1	P11362	p.Gly643Asp	RCV000223914	missense variant	microform holoprosencephaly	NC_000008.11:g.38414828C>T	ClinVar
FGFR1	P11362	p.Arg646Gln	rs1484920710	missense variant	-	NC_000008.11:g.38414819C>T	gnomAD
FGFR1	P11362	p.Asp647Asn	rs1388442293	missense variant	-	NC_000008.11:g.38414817C>T	TOPMed
FGFR1	P11362	p.Ile648Val	rs1466727439	missense variant	-	NC_000008.11:g.38414814T>C	TOPMed
FGFR1	P11362	p.His649Asn	rs1211901113	missense variant	-	NC_000008.11:g.38414811G>T	gnomAD
FGFR1	P11362	p.Ile651Thr	COSM1099630	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38414804A>G	NCI-TCGA Cosmic
FGFR1	P11362	p.Ile651Val	rs1350237414	missense variant	-	NC_000008.11:g.38414805T>C	gnomAD
FGFR1	P11362	p.Asp652Asn	rs751038400	missense variant	-	NC_000008.11:g.38414802C>T	ExAC,gnomAD
FGFR1	P11362	p.Asp652Tyr	rs751038400	missense variant	-	NC_000008.11:g.38414802C>A	ExAC,gnomAD
FGFR1	P11362	p.Tyr653Cys	rs577599441	missense variant	-	NC_000008.11:g.38414798T>C	1000Genomes,ExAC,gnomAD
FGFR1	P11362	p.Lys656Glu	RCV000441552	missense variant	Medulloblastoma (MDB)	NC_000008.11:g.38414790T>C	ClinVar
FGFR1	P11362	p.Lys656Glu	rs869320694	missense variant	-	NC_000008.11:g.38414790T>C	-
FGFR1	P11362	p.Lys656Glu	rs869320694	missense variant	Encephalocraniocutaneous lipomatosis (ECCL)	NC_000008.11:g.38414790T>C	UniProt,dbSNP
FGFR1	P11362	p.Lys656Glu	VAR_075855	missense variant	Encephalocraniocutaneous lipomatosis (ECCL)	NC_000008.11:g.38414790T>C	UniProt
FGFR1	P11362	p.Lys656Asn	RCV000437662	missense variant	Medulloblastoma (MDB)	NC_000008.11:g.38414788C>G	ClinVar
FGFR1	P11362	p.Lys656Glu	RCV000430840	missense variant	Astrocytoma	NC_000008.11:g.38414790T>C	ClinVar
FGFR1	P11362	p.Lys656Asn	RCV000443011	missense variant	Astrocytoma	NC_000008.11:g.38414788C>G	ClinVar
FGFR1	P11362	p.Lys656Asn	RCV000444182	missense variant	Glioblastoma	NC_000008.11:g.38414788C>G	ClinVar
FGFR1	P11362	p.Lys656Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38414788C>A	NCI-TCGA
FGFR1	P11362	p.Lys656Asn	RCV000433539	missense variant	-	NC_000008.11:g.38414788C>G	ClinVar
FGFR1	P11362	p.Lys656Asn	RCV000422833	missense variant	Hepatocellular carcinoma (HCC)	NC_000008.11:g.38414788C>G	ClinVar
FGFR1	P11362	p.Lys656Glu	RCV000420790	missense variant	Lymphoblastic leukemia, acute, with lymphomatous features (LALL)	NC_000008.11:g.38414790T>C	ClinVar
FGFR1	P11362	p.Lys656Glu	RCV000438709	missense variant	Hepatocellular carcinoma (HCC)	NC_000008.11:g.38414790T>C	ClinVar
FGFR1	P11362	p.Lys656Glu	RCV000428027	missense variant	-	NC_000008.11:g.38414790T>C	ClinVar
FGFR1	P11362	p.Lys656Glu	RCV000420160	missense variant	Glioblastoma	NC_000008.11:g.38414790T>C	ClinVar
FGFR1	P11362	p.Lys656Asn	RCV000426798	missense variant	Lymphoblastic leukemia, acute, with lymphomatous features (LALL)	NC_000008.11:g.38414788C>G	ClinVar
FGFR1	P11362	p.Lys656Asn	rs1057519897	missense variant	-	NC_000008.11:g.38414788C>G	gnomAD
FGFR1	P11362	p.Asn659Ser	rs1337818472	missense variant	-	NC_000008.11:g.38414780T>C	TOPMed,gnomAD
FGFR1	P11362	p.Asn659Asp	rs1360444997	missense variant	-	NC_000008.11:g.38414781T>C	TOPMed,gnomAD
FGFR1	P11362	p.Gly660Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38414629C>A	NCI-TCGA
FGFR1	P11362	p.Arg661Gly	rs776264072	missense variant	-	NC_000008.11:g.38414626G>C	ExAC,gnomAD
FGFR1	P11362	p.Arg661Gln	rs1257312391	missense variant	-	NC_000008.11:g.38414625C>T	gnomAD
FGFR1	P11362	p.Arg661_Arg822del	VAR_080330	inframe_deletion	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Val664Met	RCV000414726	missense variant	-	NC_000008.11:g.38414617C>T	ClinVar
FGFR1	P11362	p.Val664Met	rs1057518620	missense variant	-	NC_000008.11:g.38414617C>T	-
FGFR1	P11362	p.Val664Leu	VAR_042203	Missense	-	-	UniProt
FGFR1	P11362	p.Lys665Asn	rs1281881752	missense variant	-	NC_000008.11:g.38414612C>A	TOPMed,gnomAD
FGFR1	P11362	p.Lys665Arg	rs1427855487	missense variant	-	NC_000008.11:g.38414613T>C	TOPMed
FGFR1	P11362	p.Trp666Leu	rs1489129465	missense variant	-	NC_000008.11:g.38414610C>A	gnomAD
FGFR1	P11362	p.Trp666Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38414611A>C	NCI-TCGA
FGFR1	P11362	p.Trp666Arg	RCV000710044	missense variant	Hartsfield syndrome	NC_000008.11:g.38414611A>G	ClinVar
FGFR1	P11362	p.Trp666Arg	VAR_017890	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Ala668Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38414605C>T	NCI-TCGA
FGFR1	P11362	p.Glu670Gly	COSM3899995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38414598T>C	NCI-TCGA Cosmic
FGFR1	P11362	p.Glu670Lys	RCV000043591	missense variant	Hypogonadotropic hypogonadism 2 with anosmia	NC_000008.11:g.38414599C>T	ClinVar
FGFR1	P11362	p.Glu670Lys	rs397515446	missense variant	-	NC_000008.11:g.38414599C>T	-
FGFR1	P11362	p.Glu670Lys	rs397515446	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414599C>T	UniProt,dbSNP
FGFR1	P11362	p.Glu670Lys	VAR_069957	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414599C>T	UniProt
FGFR1	P11362	p.Ala671Pro	VAR_069294	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Arg675Trp	RCV000493180	missense variant	-	NC_000008.11:g.38414584G>A	ClinVar
FGFR1	P11362	p.Arg675Pro	rs771078736	missense variant	-	NC_000008.11:g.38414583C>G	ExAC,TOPMed
FGFR1	P11362	p.Arg675Gln	rs771078736	missense variant	-	NC_000008.11:g.38414583C>T	ExAC,TOPMed
FGFR1	P11362	p.Arg675Trp	rs375611478	missense variant	-	NC_000008.11:g.38414584G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Thr678Ser	COSM1099627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38414574G>C	NCI-TCGA Cosmic
FGFR1	P11362	p.His679Tyr	rs1435328508	missense variant	-	NC_000008.11:g.38414572G>A	TOPMed
FGFR1	P11362	p.Gln680Ter	RCV000156950	nonsense	Delayed puberty	NC_000008.11:g.38414569G>A	ClinVar
FGFR1	P11362	p.Trp684Ter	rs1554547400	stop gained	-	NC_000008.11:g.38414286C>T	-
FGFR1	P11362	p.Trp684Ter	RCV000657784	nonsense	-	NC_000008.11:g.38414286C>T	ClinVar
FGFR1	P11362	p.Ser685Phe	VAR_031000	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Gly687Arg	rs727505376	missense variant	-	NC_000008.11:g.38414279C>G	-
FGFR1	P11362	p.Gly687Arg	RCV000156967	missense variant	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)	NC_000008.11:g.38414279C>T	ClinVar
FGFR1	P11362	p.Gly687Arg	rs727505376	missense variant	-	NC_000008.11:g.38414279C>T	-
FGFR1	P11362	p.Gly687Arg	RCV000503490	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38414279C>G	ClinVar
FGFR1	P11362	p.Val688Leu	rs1057518060	missense variant	-	NC_000008.11:g.38414276C>G	-
FGFR1	P11362	p.Val688Leu	RCV000413066	missense variant	-	NC_000008.11:g.38414276C>G	ClinVar
FGFR1	P11362	p.Trp691Cys	RCV000430948	missense variant	-	NC_000008.11:g.38414265C>A	ClinVar
FGFR1	P11362	p.Trp691Cys	rs1057524546	missense variant	-	NC_000008.11:g.38414265C>A	-
FGFR1	P11362	p.Glu692Gly	rs397515445	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414263T>C	UniProt,dbSNP
FGFR1	P11362	p.Glu692Gly	VAR_069958	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414263T>C	UniProt
FGFR1	P11362	p.Glu692Gly	rs397515445	missense variant	-	NC_000008.11:g.38414263T>C	-
FGFR1	P11362	p.Glu692Gly	RCV000043590	missense variant	Hypogonadotropic hypogonadism 2 with anosmia	NC_000008.11:g.38414263T>C	ClinVar
FGFR1	P11362	p.Glu692Lys	RCV000223865	missense variant	Holoprosencephaly sequence (HPE)	NC_000008.11:g.38414264C>T	ClinVar
FGFR1	P11362	p.Glu692Lys	rs876661335	missense variant	-	NC_000008.11:g.38414264C>T	-
FGFR1	P11362	p.Ile693Val	rs763166714	missense variant	-	NC_000008.11:g.38414261T>C	ExAC,gnomAD
FGFR1	P11362	p.Ile693Phe	VAR_031002	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Thr695Ile	RCV000119060	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38414254G>A	ClinVar
FGFR1	P11362	p.Thr695Ile	rs515726225	missense variant	-	NC_000008.11:g.38414254G>A	-
FGFR1	P11362	p.Tyr701Cys	rs1352457632	missense variant	-	NC_000008.11:g.38414236T>C	gnomAD
FGFR1	P11362	p.Gly703Ala	rs1366165565	missense variant	-	NC_000008.11:g.38414230C>G	gnomAD
FGFR1	P11362	p.Gly703Ser	rs768957161	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414231C>T	UniProt,dbSNP
FGFR1	P11362	p.Gly703Ser	VAR_031004	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414231C>T	UniProt
FGFR1	P11362	p.Gly703Ser	rs768957161	missense variant	-	NC_000008.11:g.38414231C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Gly703Arg	VAR_031003	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Lys714Arg	rs745441616	missense variant	-	NC_000008.11:g.38414197T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu715Asp	rs778281261	missense variant	-	NC_000008.11:g.38414193C>A	ExAC,gnomAD
FGFR1	P11362	p.His717Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38414189G>A	NCI-TCGA
FGFR1	P11362	p.His717Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38414189G>T	NCI-TCGA
FGFR1	P11362	p.His717Arg	rs1376273429	missense variant	-	NC_000008.11:g.38414188T>C	gnomAD
FGFR1	P11362	p.Arg718Gly	rs1057520536	missense variant	-	NC_000008.11:g.38414186G>C	-
FGFR1	P11362	p.Arg718Gly	RCV000423621	missense variant	-	NC_000008.11:g.38414186G>C	ClinVar
FGFR1	P11362	p.Arg718His	rs1415925468	missense variant	-	NC_000008.11:g.38414185C>T	gnomAD
FGFR1	P11362	p.Met719Val	rs1085307879	missense variant	-	NC_000008.11:g.38414183T>C	-
FGFR1	P11362	p.Met719Val	RCV000490235	missense variant	-	NC_000008.11:g.38414183T>C	ClinVar
FGFR1	P11362	p.Met719Arg	VAR_017891	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Asp720Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38414180C>T	NCI-TCGA
FGFR1	P11362	p.Lys721Gln	rs753372445	missense variant	-	NC_000008.11:g.38414177T>G	ExAC,gnomAD
FGFR1	P11362	p.Pro722Ser	rs121909642	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414174G>A	UniProt,dbSNP
FGFR1	P11362	p.Pro722Ser	VAR_031006	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38414174G>A	UniProt
FGFR1	P11362	p.Pro722Ser	rs121909642	missense variant	-	NC_000008.11:g.38414174G>A	-
FGFR1	P11362	p.Pro722Ser	RCV000030937	missense variant	Hypogonadotropic hypogonadism 2 with anosmia	NC_000008.11:g.38414174G>A	ClinVar
FGFR1	P11362	p.Pro722Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38414173G>A	NCI-TCGA
FGFR1	P11362	p.Pro722His	RCV000030930	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38414173G>T	ClinVar
FGFR1	P11362	p.Pro722His	rs267606805	missense variant	-	NC_000008.11:g.38414173G>T	-
FGFR1	P11362	p.Ser723Asn	rs755934643	missense variant	-	NC_000008.11:g.38414170C>T	ExAC,gnomAD
FGFR1	P11362	p.Asn724Lys	rs267606806	missense variant	-	NC_000008.11:g.38414166G>C	ExAC,gnomAD
FGFR1	P11362	p.Asn724Lys	RCV000030930	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38414166G>C	ClinVar
FGFR1	P11362	p.Asn724Tyr	rs1190864622	missense variant	-	NC_000008.11:g.38414168T>A	gnomAD
FGFR1	P11362	p.Cys725Tyr	RCV000056313	missense variant	Hartsfield syndrome	NC_000008.11:g.38414164C>T	ClinVar
FGFR1	P11362	p.Cys725Tyr	rs398122945	missense variant	Hartsfield syndrome (HRTFDS)	NC_000008.11:g.38414164C>T	UniProt,dbSNP
FGFR1	P11362	p.Cys725Tyr	VAR_070856	missense variant	Hartsfield syndrome (HRTFDS)	NC_000008.11:g.38414164C>T	UniProt
FGFR1	P11362	p.Cys725Tyr	rs398122945	missense variant	Hartsfield syndrome (hrtfds)	NC_000008.11:g.38414164C>T	-
FGFR1	P11362	p.Thr726Ala	rs1409446474	missense variant	-	NC_000008.11:g.38414162T>C	TOPMed
FGFR1	P11362	p.Asn727Ser	rs1257744746	missense variant	-	NC_000008.11:g.38414158T>C	gnomAD
FGFR1	P11362	p.Glu728Lys	rs759382055	missense variant	-	NC_000008.11:g.38414156C>T	ExAC,gnomAD
FGFR1	P11362	p.Met731Thr	rs1044312216	missense variant	-	NC_000008.11:g.38414018A>G	TOPMed
FGFR1	P11362	p.Met731Val	rs560927853	missense variant	-	NC_000008.11:g.38414019T>C	1000Genomes,gnomAD
FGFR1	P11362	p.Arg734Trp	rs1329256283	missense variant	-	NC_000008.11:g.38414010G>A	gnomAD
FGFR1	P11362	p.Arg734Gln	rs760882547	missense variant	-	NC_000008.11:g.38414009C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asp735His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38414007C>G	NCI-TCGA
FGFR1	P11362	p.Cys736Arg	rs1554546677	missense variant	-	NC_000008.11:g.38414004A>G	-
FGFR1	P11362	p.Cys736Arg	RCV000560918	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38414004A>G	ClinVar
FGFR1	P11362	p.Trp737Arg	rs727505377	missense variant	-	NC_000008.11:g.38414001A>G	-
FGFR1	P11362	p.Trp737Arg	RCV000156969	missense variant	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)	NC_000008.11:g.38414001A>G	ClinVar
FGFR1	P11362	p.Ala739Thr	rs1166216167	missense variant	-	NC_000008.11:g.38413995C>T	gnomAD
FGFR1	P11362	p.Ala739Val	rs1444167285	missense variant	-	NC_000008.11:g.38413994G>A	gnomAD
FGFR1	P11362	p.Val740Met	COSM3899987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.38413992C>T	NCI-TCGA Cosmic
FGFR1	P11362	p.Pro741His	rs1412615365	missense variant	-	NC_000008.11:g.38413988G>T	gnomAD
FGFR1	P11362	p.Pro745Ser	VAR_031008	Missense	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950]	-	UniProt
FGFR1	P11362	p.Thr746Asn	rs760108543	missense variant	-	NC_000008.11:g.38413973G>T	ExAC,gnomAD
FGFR1	P11362	p.Val751Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38413959C>T	NCI-TCGA
FGFR1	P11362	p.Asp755Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38413946T>G	NCI-TCGA
FGFR1	P11362	p.Arg756His	rs374473310	missense variant	-	NC_000008.11:g.38413943C>T	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg756Cys	rs1219463859	missense variant	-	NC_000008.11:g.38413944G>A	gnomAD
FGFR1	P11362	p.Val758Met	rs527606454	missense variant	-	NC_000008.11:g.38413938C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ala759Val	rs1210419471	missense variant	-	NC_000008.11:g.38413934G>A	TOPMed
FGFR1	P11362	p.Asn763Lys	rs746786094	missense variant	-	NC_000008.11:g.38413921G>C	ExAC,gnomAD
FGFR1	P11362	p.Gln764His	rs121909643	missense variant	-	NC_000008.11:g.38413918C>G	TOPMed
FGFR1	P11362	p.Gln764His	RCV000030938	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38413918C>A	ClinVar
FGFR1	P11362	p.Gln764His	rs121909643	missense variant	-	NC_000008.11:g.38413918C>A	TOPMed
FGFR1	P11362	p.Leu767Met	rs1396211501	missense variant	-	NC_000008.11:g.38413798G>T	gnomAD
FGFR1	P11362	p.Asp768Asn	rs121909644	missense variant	-	NC_000008.11:g.38413795C>T	TOPMed
FGFR1	P11362	p.Asp768Tyr	RCV000030939	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38413795C>A	ClinVar
FGFR1	P11362	p.Asp768Tyr	rs121909644	missense variant	-	NC_000008.11:g.38413795C>A	TOPMed
FGFR1	P11362	p.Asp768Tyr	rs121909644	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38413795C>A	UniProt,dbSNP
FGFR1	P11362	p.Asp768Tyr	VAR_069959	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38413795C>A	UniProt
FGFR1	P11362	p.Leu769Val	rs2956723	missense variant	-	NC_000008.11:g.38413792G>C	UniProt,dbSNP
FGFR1	P11362	p.Leu769Val	VAR_031009	missense variant	-	NC_000008.11:g.38413792G>C	UniProt
FGFR1	P11362	p.Leu769Val	rs2956723	missense variant	-	NC_000008.11:g.38413792G>C	-
FGFR1	P11362	p.Ser770Cys	rs751937328	missense variant	-	NC_000008.11:g.38413788G>C	ExAC,gnomAD
FGFR1	P11362	p.Ser770Phe	rs751937328	missense variant	-	NC_000008.11:g.38413788G>A	ExAC,gnomAD
FGFR1	P11362	p.Met771Val	rs1301403995	missense variant	-	NC_000008.11:g.38413786T>C	gnomAD
FGFR1	P11362	p.Met771Ile	rs1466028968	missense variant	-	NC_000008.11:g.38413784C>T	TOPMed,gnomAD
FGFR1	P11362	p.Pro772Ser	rs56234888	missense variant	-	NC_000008.11:g.38413783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro772Ser	RCV000316400	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38413783G>A	ClinVar
FGFR1	P11362	p.Pro772Ser	RCV000263686	missense variant	Pfeiffer syndrome (ACS5)	NC_000008.11:g.38413783G>A	ClinVar
FGFR1	P11362	p.Pro772Ser	RCV000322415	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.38413783G>A	ClinVar
FGFR1	P11362	p.Pro772Ser	RCV000356059	missense variant	-	NC_000008.11:g.38413783G>A	ClinVar
FGFR1	P11362	p.Pro772Ser	RCV000264893	missense variant	Nonsyndromic Trigonocephaly	NC_000008.11:g.38413783G>A	ClinVar
FGFR1	P11362	p.Pro772Ser	RCV000677340	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38413783G>A	ClinVar
FGFR1	P11362	p.Pro772Thr	rs56234888	missense variant	-	NC_000008.11:g.38413783G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Gln775Glu	rs1232665126	missense variant	-	NC_000008.11:g.38413774G>C	TOPMed
FGFR1	P11362	p.Gln775His	rs1172958596	missense variant	-	NC_000008.11:g.38413772C>G	gnomAD
FGFR1	P11362	p.Tyr776Ter	rs1330993385	stop gained	-	NC_000008.11:g.38413769G>C	TOPMed
FGFR1	P11362	p.Tyr776Ser	rs1307564234	missense variant	-	NC_000008.11:g.38413770T>G	gnomAD
FGFR1	P11362	p.Tyr776Ter	rs1330993385	stop gained	-	NC_000008.11:g.38413769G>T	TOPMed
FGFR1	P11362	p.Ser777Phe	rs1213419262	missense variant	-	NC_000008.11:g.38413767G>A	TOPMed
FGFR1	P11362	p.Pro778Leu	rs1483382491	missense variant	-	NC_000008.11:g.38413764G>A	TOPMed
FGFR1	P11362	p.Phe780Ser	rs764873744	missense variant	-	NC_000008.11:g.38413758A>G	ExAC
FGFR1	P11362	p.Asp782Asn	rs776189467	missense variant	-	NC_000008.11:g.38413753C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg784Gln	rs746602135	missense variant	-	NC_000008.11:g.38413746C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg784Trp	rs377149398	missense variant	-	NC_000008.11:g.38413747G>A	ESP,gnomAD
FGFR1	P11362	p.Ser786Cys	rs775161322	missense variant	-	NC_000008.11:g.38413740G>C	ExAC,gnomAD
FGFR1	P11362	p.Thr787Met	rs555706876	missense variant	-	NC_000008.11:g.38413737G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Ser789Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38413731G>C	NCI-TCGA
FGFR1	P11362	p.Ser790Leu	rs1421199406	missense variant	-	NC_000008.11:g.38413728G>A	TOPMed
FGFR1	P11362	p.Gly791Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38413725C>A	NCI-TCGA
FGFR1	P11362	p.Asp793Asn	rs989394574	missense variant	-	NC_000008.11:g.38413720C>T	TOPMed,gnomAD
FGFR1	P11362	p.Val795Ile	rs781328162	missense variant	-	NC_000008.11:g.38413714C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Val795Ile	rs781328162	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38413714C>T	UniProt,dbSNP
FGFR1	P11362	p.Val795Ile	VAR_031010	missense variant	Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)	NC_000008.11:g.38413714C>T	UniProt
FGFR1	P11362	p.His798Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.38413705G>A	NCI-TCGA
FGFR1	P11362	p.His798Arg	rs755160898	missense variant	-	NC_000008.11:g.38413704T>C	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro800Leu	rs377620009	missense variant	-	NC_000008.11:g.38413698G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu803Ter	rs765900637	stop gained	-	NC_000008.11:g.38413690C>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu803Lys	rs765900637	missense variant	-	NC_000008.11:g.38413690C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Glu804Lys	rs1238519686	missense variant	-	NC_000008.11:g.38413687C>T	gnomAD
FGFR1	P11362	p.Pro805Ala	rs1456342214	missense variant	-	NC_000008.11:g.38413684G>C	TOPMed,gnomAD
FGFR1	P11362	p.Pro805Ser	rs1456342214	missense variant	-	NC_000008.11:g.38413684G>A	TOPMed,gnomAD
FGFR1	P11362	p.Cys806Ter	rs763600740	stop gained	-	NC_000008.11:g.38413679G>T	ExAC,gnomAD
FGFR1	P11362	p.Cys806Tyr	rs753288703	missense variant	-	NC_000008.11:g.38413680C>T	ExAC,gnomAD
FGFR1	P11362	p.Arg809Gln	rs771680156	missense variant	-	NC_000008.11:g.38413671C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg809Ter	rs775166971	stop gained	-	NC_000008.11:g.38413672G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.His810Tyr	rs759376422	missense variant	-	NC_000008.11:g.38413669G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.His810Asn	rs759376422	missense variant	-	NC_000008.11:g.38413669G>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Pro811Arg	rs774120844	missense variant	-	NC_000008.11:g.38413665G>C	ExAC,gnomAD
FGFR1	P11362	p.Pro811Ala	rs1324331483	missense variant	-	NC_000008.11:g.38413666G>C	TOPMed,gnomAD
FGFR1	P11362	p.Gln813His	rs749184176	missense variant	-	NC_000008.11:g.38413658C>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Asn816His	rs1162921288	missense variant	-	NC_000008.11:g.38413651T>G	gnomAD
FGFR1	P11362	p.Gly818Arg	rs17182456	missense variant	-	NC_000008.11:g.38413645C>T	TOPMed,gnomAD
FGFR1	P11362	p.Gly818Glu	rs1437821654	missense variant	-	NC_000008.11:g.38413644C>T	gnomAD
FGFR1	P11362	p.Arg821Cys	rs768736835	missense variant	-	NC_000008.11:g.38413636G>A	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg821His	rs747228916	missense variant	-	NC_000008.11:g.38413635C>T	ExAC,gnomAD
FGFR1	P11362	p.Arg822His	RCV000310867	missense variant	Nonsyndromic Trigonocephaly	NC_000008.11:g.38413632C>T	ClinVar
FGFR1	P11362	p.Arg822His	RCV000361960	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.38413632C>T	ClinVar
FGFR1	P11362	p.Arg822His	RCV000395481	missense variant	Pfeiffer syndrome (ACS5)	NC_000008.11:g.38413632C>T	ClinVar
FGFR1	P11362	p.Arg822His	RCV000363279	missense variant	Osteoglophonic dysplasia (OGD)	NC_000008.11:g.38413632C>T	ClinVar
FGFR1	P11362	p.Arg822Cys	rs17182463	missense variant	-	NC_000008.11:g.38413633G>A	ESP,ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg822His	rs758677681	missense variant	-	NC_000008.11:g.38413632C>T	ExAC,TOPMed,gnomAD
FGFR1	P11362	p.Arg822His	RCV000304983	missense variant	-	NC_000008.11:g.38413632C>T	ClinVar
FGFR1	P11362	p.Arg822His	RCV000757293	missense variant	-	NC_000008.11:g.38413632C>T	ClinVar
FGFR1	P11362	p.Arg822Cys	RCV000644522	missense variant	Kallmann syndrome 2 (KAL2)	NC_000008.11:g.38413633G>A	ClinVar
FGF3	P11487	p.Gly2Val	rs1554981459	missense variant	-	NC_000011.10:g.69818929C>A	gnomAD
FGF3	P11487	p.Trp5Ter	rs1169754382	stop gained	-	NC_000011.10:g.69818920C>T	TOPMed
FGF3	P11487	p.Leu6Pro	RCV000014853	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818917A>G	ClinVar
FGF3	P11487	p.Leu6Pro	rs121917706	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69818917A>G	UniProt,dbSNP
FGF3	P11487	p.Leu6Pro	VAR_060492	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69818917A>G	UniProt
FGF3	P11487	p.Leu6Pro	rs121917706	missense variant	-	NC_000011.10:g.69818917A>G	-
FGF3	P11487	p.Leu6Met	rs1554981458	missense variant	-	NC_000011.10:g.69818918G>T	gnomAD
FGF3	P11487	p.Leu8Pro	rs1463172702	missense variant	-	NC_000011.10:g.69818911A>G	TOPMed
FGF3	P11487	p.Glu13Ter	rs1554981448	stop gained	-	NC_000011.10:g.69818897C>A	gnomAD
FGF3	P11487	p.Pro14Ser	rs782504234	missense variant	-	NC_000011.10:g.69818894G>A	ExAC,gnomAD
FGF3	P11487	p.Gly15Ser	rs781913822	missense variant	-	NC_000011.10:g.69818891C>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Gly15Asp	rs1554981444	missense variant	-	NC_000011.10:g.69818890C>T	gnomAD
FGF3	P11487	p.Trp16Cys	rs1554981438	missense variant	-	NC_000011.10:g.69818886C>A	gnomAD
FGF3	P11487	p.Pro17Thr	rs1554981437	missense variant	-	NC_000011.10:g.69818885G>T	gnomAD
FGF3	P11487	p.Pro17Leu	rs1554981435	missense variant	-	NC_000011.10:g.69818884G>A	gnomAD
FGF3	P11487	p.Ala18Thr	rs1554981434	missense variant	-	NC_000011.10:g.69818882C>T	gnomAD
FGF3	P11487	p.Ala18Ser	rs1554981434	missense variant	-	NC_000011.10:g.69818882C>A	gnomAD
FGF3	P11487	p.Ala18Val	rs1214505914	missense variant	-	NC_000011.10:g.69818881G>A	TOPMed,gnomAD
FGF3	P11487	p.Ala19Val	rs868984673	missense variant	-	NC_000011.10:g.69818878G>A	gnomAD
FGF3	P11487	p.Ala19Ser	rs1554981433	missense variant	-	NC_000011.10:g.69818879C>A	gnomAD
FGF3	P11487	p.Gly20Asp	rs782813347	missense variant	-	NC_000011.10:g.69818875C>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Gly20Ser	rs1554981430	missense variant	-	NC_000011.10:g.69818876C>T	gnomAD
FGF3	P11487	p.Pro21Leu	rs1554981428	missense variant	-	NC_000011.10:g.69818872G>A	gnomAD
FGF3	P11487	p.Gly22Arg	rs1234725536	missense variant	-	NC_000011.10:g.69818870C>T	TOPMed
FGF3	P11487	p.Ala23Thr	rs1554981425	missense variant	-	NC_000011.10:g.69818867C>T	gnomAD
FGF3	P11487	p.Arg24Trp	rs1450818144	missense variant	-	NC_000011.10:g.69818864G>A	TOPMed
FGF3	P11487	p.Arg24Gln	rs1554981422	missense variant	-	NC_000011.10:g.69818863C>T	gnomAD
FGF3	P11487	p.Leu25Trp	rs1219180577	missense variant	-	NC_000011.10:g.69818860A>C	TOPMed
FGF3	P11487	p.Arg26Trp	rs781923153	missense variant	-	NC_000011.10:g.69818858G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg26Gln	rs782733556	missense variant	-	NC_000011.10:g.69818857C>T	ExAC,gnomAD
FGF3	P11487	p.Arg27Cys	rs1554981421	missense variant	-	NC_000011.10:g.69818855G>A	gnomAD
FGF3	P11487	p.Ala29Glu	rs781998314	missense variant	-	NC_000011.10:g.69818848G>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ala29Ser	rs1554981418	missense variant	-	NC_000011.10:g.69818849C>A	gnomAD
FGF3	P11487	p.Ala29Val	rs781998314	missense variant	-	NC_000011.10:g.69818848G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Gly30Asp	rs901877047	missense variant	-	NC_000011.10:g.69818845C>T	TOPMed,gnomAD
FGF3	P11487	p.Gly31Ser	rs1554981416	missense variant	-	NC_000011.10:g.69818843C>T	gnomAD
FGF3	P11487	p.Gly31Cys	rs1554981416	missense variant	-	NC_000011.10:g.69818843C>A	gnomAD
FGF3	P11487	p.Gly31Ala	rs1554981415	missense variant	-	NC_000011.10:g.69818842C>G	gnomAD
FGF3	P11487	p.Arg32Gly	rs1554981414	missense variant	-	NC_000011.10:g.69818840G>C	gnomAD
FGF3	P11487	p.Gly34Cys	rs1039515359	missense variant	-	NC_000011.10:g.69818834C>A	TOPMed,gnomAD
FGF3	P11487	p.Gly34Cys	RCV000763765	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818834C>A	ClinVar
FGF3	P11487	p.Gly34Cys	RCV000489136	missense variant	-	NC_000011.10:g.69818834C>A	ClinVar
FGF3	P11487	p.Val35Gly	rs1554981410	missense variant	-	NC_000011.10:g.69818830A>C	gnomAD
FGF3	P11487	p.Val35Ile	rs1430586811	missense variant	-	NC_000011.10:g.69818831C>T	TOPMed,gnomAD
FGF3	P11487	p.Val35Phe	rs1430586811	missense variant	-	NC_000011.10:g.69818831C>A	TOPMed,gnomAD
FGF3	P11487	p.Glu37Gln	rs1296941402	missense variant	-	NC_000011.10:g.69818825C>G	TOPMed,gnomAD
FGF3	P11487	p.Gly40Arg	rs1554981406	missense variant	-	NC_000011.10:g.69818816C>G	gnomAD
FGF3	P11487	p.Pro43Ser	rs1554981402	missense variant	-	NC_000011.10:g.69818807G>A	gnomAD
FGF3	P11487	p.Arg45Ser	rs782297586	missense variant	-	NC_000011.10:g.69818801G>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg45Cys	rs782297586	missense variant	-	NC_000011.10:g.69818801G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Lys47Asn	rs1317320809	missense variant	-	NC_000011.10:g.69818793C>A	TOPMed,gnomAD
FGF3	P11487	p.Tyr49Cys	RCV000022692	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818788T>C	ClinVar
FGF3	P11487	p.Tyr49Cys	rs281860300	missense variant	-	NC_000011.10:g.69818788T>C	-
FGF3	P11487	p.Cys50Ter	RCV000031938	nonsense	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818784G>T	ClinVar
FGF3	P11487	p.Cys50Ter	rs281860301	stop gained	-	NC_000011.10:g.69818784G>T	gnomAD
FGF3	P11487	p.Ala51Ser	rs782014417	missense variant	-	NC_000011.10:g.69818783C>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.His55Asn	rs1260985899	missense variant	-	NC_000011.10:g.69818771G>T	TOPMed
FGF3	P11487	p.Leu56Ile	rs782324453	missense variant	-	NC_000011.10:g.69818768G>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Leu56Phe	rs782324453	missense variant	-	NC_000011.10:g.69818768G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.His59Gln	rs1188817570	missense variant	-	NC_000011.10:g.69818757G>T	TOPMed,gnomAD
FGF3	P11487	p.Pro60Leu	rs1049232873	missense variant	-	NC_000011.10:g.69818755G>A	gnomAD
FGF3	P11487	p.Arg63His	rs929527246	missense variant	-	NC_000011.10:g.69818746C>T	TOPMed,gnomAD
FGF3	P11487	p.Arg63Cys	rs1554981392	missense variant	-	NC_000011.10:g.69818747G>A	gnomAD
FGF3	P11487	p.Asn65Lys	rs1471911794	missense variant	-	NC_000011.10:g.69818739G>C	TOPMed,gnomAD
FGF3	P11487	p.Gly66Cys	RCV000014852	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69818738C>A	ClinVar
FGF3	P11487	p.Gly66Asp	rs1554981387	missense variant	-	NC_000011.10:g.69818737C>T	gnomAD
FGF3	P11487	p.Gly66Cys	rs121917705	missense variant	-	NC_000011.10:g.69818738C>A	gnomAD
FGF3	P11487	p.Gly66Ser	rs121917705	missense variant	-	NC_000011.10:g.69818738C>T	gnomAD
FGF3	P11487	p.Leu68Pro	rs782172938	missense variant	-	NC_000011.10:g.69818731A>G	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ser71Asn	rs1554981385	missense variant	-	NC_000011.10:g.69818722C>T	gnomAD
FGF3	P11487	p.Ser71Arg	rs1409151454	missense variant	-	NC_000011.10:g.69818721G>T	TOPMed
FGF3	P11487	p.Ala72Thr	rs1419524448	missense variant	-	NC_000011.10:g.69818720C>T	TOPMed,gnomAD
FGF3	P11487	p.Ser74Gly	rs1554981382	missense variant	-	NC_000011.10:g.69818714T>C	gnomAD
FGF3	P11487	p.Ser74Asn	rs781984680	missense variant	-	NC_000011.10:g.69816423C>T	ExAC,gnomAD
FGF3	P11487	p.Ile75Val	rs782421361	missense variant	-	NC_000011.10:g.69816421T>C	ExAC,gnomAD
FGF3	P11487	p.Glu77Ter	rs1554981088	stop gained	-	NC_000011.10:g.69816415C>A	gnomAD
FGF3	P11487	p.Ile78Met	rs782286821	missense variant	-	NC_000011.10:g.69816410T>C	ExAC,gnomAD
FGF3	P11487	p.Val81Met	rs782315409	missense variant	-	NC_000011.10:g.69816403C>T	ExAC,gnomAD
FGF3	P11487	p.Glu82Gly	rs146864055	missense variant	-	NC_000011.10:g.69816399T>C	ExAC,gnomAD
FGF3	P11487	p.Val83Gly	rs988287639	missense variant	-	NC_000011.10:g.69816396A>C	gnomAD
FGF3	P11487	p.Val83Leu	rs1381894272	missense variant	-	NC_000011.10:g.69816397C>A	TOPMed
FGF3	P11487	p.Ile85Ter	RCV000014854	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69816390del	ClinVar
FGF3	P11487	p.Ile88Phe	rs1450391872	missense variant	-	NC_000011.10:g.69816382T>A	TOPMed,gnomAD
FGF3	P11487	p.Gly90Ser	rs1554981085	missense variant	-	NC_000011.10:g.69816376C>T	gnomAD
FGF3	P11487	p.Leu91Ter	RCV000477891	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69816374dup	ClinVar
FGF3	P11487	p.Gly94Arg	rs782507721	missense variant	-	NC_000011.10:g.69816364C>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg95Trp	rs281860303	missense variant	-	NC_000011.10:g.69816361G>A	NCI-TCGA,NCI-TCGA Cosmic
FGF3	P11487	p.Arg95Gln	rs558206333	missense variant	-	NC_000011.10:g.69816360C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg95Trp	RCV000485154	missense variant	-	NC_000011.10:g.69816361G>A	ClinVar
FGF3	P11487	p.Arg95Trp	rs281860303	missense variant	-	NC_000011.10:g.69816361G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Tyr96His	rs782535318	missense variant	-	NC_000011.10:g.69816358A>G	NCI-TCGA
FGF3	P11487	p.Tyr96Ter	rs1204634476	stop gained	-	NC_000011.10:g.69816357dup	TOPMed,gnomAD
FGF3	P11487	p.Tyr96His	rs782535318	missense variant	-	NC_000011.10:g.69816358A>G	ExAC,gnomAD
FGF3	P11487	p.Lys101Asn	rs61623544	missense variant	-	NC_000011.10:g.69816341C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Lys101Glu	rs1554981078	missense variant	-	NC_000011.10:g.69816343T>C	gnomAD
FGF3	P11487	p.Lys101Asn	rs61623544	missense variant	-	NC_000011.10:g.69816341C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg102Thr	rs782695249	missense variant	-	NC_000011.10:g.69816339C>G	ExAC,gnomAD
FGF3	P11487	p.Arg102Lys	rs782695249	missense variant	-	NC_000011.10:g.69816339C>T	ExAC,gnomAD
FGF3	P11487	p.Arg102Trp	rs1184649905	missense variant	-	NC_000011.10:g.69816340T>A	TOPMed
FGF3	P11487	p.Gly103Arg	COSM4036244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69816337C>T	NCI-TCGA Cosmic
FGF3	P11487	p.Arg104Ter	rs121917704	stop gained	-	NC_000011.10:g.69816334G>A	NCI-TCGA
FGF3	P11487	p.Arg104Ter	RCV000014850	nonsense	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69816334G>A	ClinVar
FGF3	P11487	p.Arg104Gln	rs150581924	missense variant	-	NC_000011.10:g.69816333C>T	NCI-TCGA,NCI-TCGA Cosmic
FGF3	P11487	p.Arg104Pro	rs150581924	missense variant	-	NC_000011.10:g.69816333C>G	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg104Ter	rs121917704	stop gained	-	NC_000011.10:g.69816334G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg104Gln	rs150581924	missense variant	-	NC_000011.10:g.69816333C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg104Leu	rs150581924	missense variant	-	NC_000011.10:g.69816333C>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Tyr106Cys	RCV000022693	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69816327T>C	ClinVar
FGF3	P11487	p.Tyr106Cys	rs281860306	missense variant	-	NC_000011.10:g.69816327T>C	-
FGF3	P11487	p.Tyr106Ter	rs782098384	stop gained	-	NC_000011.10:g.69816326A>T	TOPMed,gnomAD
FGF3	P11487	p.Tyr106His	rs782160613	missense variant	-	NC_000011.10:g.69816328A>G	ExAC,gnomAD
FGF3	P11487	p.Ser108Leu	rs143593259	missense variant	-	NC_000011.10:g.69816321G>A	NCI-TCGA,NCI-TCGA Cosmic
FGF3	P11487	p.Ser108Leu	rs143593259	missense variant	-	NC_000011.10:g.69816321G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Glu109Lys	rs1052333347	missense variant	-	NC_000011.10:g.69810700C>T	TOPMed,gnomAD
FGF3	P11487	p.His110Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810697G>T	NCI-TCGA
FGF3	P11487	p.His110GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.69810695_69810696insT	NCI-TCGA
FGF3	P11487	p.His110Gln	rs1554980383	missense variant	-	NC_000011.10:g.69810695G>T	gnomAD
FGF3	P11487	p.Tyr111His	rs1554980380	missense variant	-	NC_000011.10:g.69810694A>G	gnomAD
FGF3	P11487	p.Ala113Thr	rs781938977	missense variant	-	NC_000011.10:g.69810688C>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Glu114Gln	rs147952743	missense variant	-	NC_000011.10:g.69810685C>G	ExAC,gnomAD
FGF3	P11487	p.Glu114Lys	rs147952743	missense variant	-	NC_000011.10:g.69810685C>T	ExAC,gnomAD
FGF3	P11487	p.Glu114Asp	rs782234525	missense variant	-	NC_000011.10:g.69810683C>G	ExAC,gnomAD
FGF3	P11487	p.Cys115Trp	rs116162988	missense variant	-	NC_000011.10:g.69810680G>C	1000Genomes,ExAC,gnomAD
FGF3	P11487	p.Glu116Lys	rs79472069	missense variant	-	NC_000011.10:g.69810679C>T	NCI-TCGA
FGF3	P11487	p.Glu116Gln	rs79472069	missense variant	-	NC_000011.10:g.69810679C>G	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Glu116Lys	rs79472069	missense variant	-	NC_000011.10:g.69810679C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Glu119Ter	rs546096461	stop gained	-	NC_000011.10:g.69810670C>A	1000Genomes,ExAC,gnomAD
FGF3	P11487	p.Arg120Trp	rs376445217	missense variant	-	NC_000011.10:g.69810667G>A	ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg120Gly	rs376445217	missense variant	-	NC_000011.10:g.69810667G>C	ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg120Gln	rs571671602	missense variant	-	NC_000011.10:g.69810666C>T	1000Genomes,ExAC,gnomAD
FGF3	P11487	p.Ile121Asn	rs144384566	missense variant	-	NC_000011.10:g.69810663A>T	ESP,TOPMed,gnomAD
FGF3	P11487	p.His122Asn	COSM239872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810661G>T	NCI-TCGA Cosmic
FGF3	P11487	p.His122Gln	rs1239990487	missense variant	-	NC_000011.10:g.69810659G>C	TOPMed,gnomAD
FGF3	P11487	p.Glu123Lys	COSM3452645	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810658C>T	NCI-TCGA Cosmic
FGF3	P11487	p.Gly125Ala	COSM3452644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810651C>G	NCI-TCGA Cosmic
FGF3	P11487	p.Gly125Ser	rs1462325550	missense variant	-	NC_000011.10:g.69810652C>T	TOPMed
FGF3	P11487	p.Thr128Met	rs782768201	missense variant	-	NC_000011.10:g.69810642G>A	NCI-TCGA,NCI-TCGA Cosmic
FGF3	P11487	p.Thr128Met	rs782768201	missense variant	-	NC_000011.10:g.69810642G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Tyr129Cys	rs781892148	missense variant	-	NC_000011.10:g.69810639T>C	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ala130Thr	rs1442579536	missense variant	-	NC_000011.10:g.69810637C>T	TOPMed
FGF3	P11487	p.Arg132Gln	rs1408695395	missense variant	-	NC_000011.10:g.69810630C>T	NCI-TCGA
FGF3	P11487	p.Arg132Gly	rs372402801	missense variant	-	NC_000011.10:g.69810631G>C	ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg132Gln	rs1408695395	missense variant	-	NC_000011.10:g.69810630C>T	TOPMed
FGF3	P11487	p.Arg132Ter	RCV000031940	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810633del	ClinVar
FGF3	P11487	p.Arg132Trp	rs372402801	missense variant	-	NC_000011.10:g.69810631G>A	ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Leu133Gln	rs149649414	missense variant	-	NC_000011.10:g.69810627A>T	ESP
FGF3	P11487	p.Tyr134His	rs1408391209	missense variant	-	NC_000011.10:g.69810625A>G	TOPMed,gnomAD
FGF3	P11487	p.Tyr134Cys	rs1554980371	missense variant	-	NC_000011.10:g.69810624T>C	gnomAD
FGF3	P11487	p.Arg135Gly	rs574433541	missense variant	-	NC_000011.10:g.69810622G>C	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg135Trp	rs574433541	missense variant	-	NC_000011.10:g.69810622G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg135Gln	rs199801193	missense variant	-	NC_000011.10:g.69810621C>T	NCI-TCGA,NCI-TCGA Cosmic
FGF3	P11487	p.Arg135Gln	rs199801193	missense variant	-	NC_000011.10:g.69810621C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Thr136Met	rs782272422	missense variant	-	NC_000011.10:g.69810618G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Val137Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810615A>T	NCI-TCGA
FGF3	P11487	p.Val137Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810616C>T	NCI-TCGA
FGF3	P11487	p.Val137Ala	rs1280624808	missense variant	-	NC_000011.10:g.69810615A>G	TOPMed
FGF3	P11487	p.Val137Leu	rs147515396	missense variant	-	NC_000011.10:g.69810616C>A	ESP,gnomAD
FGF3	P11487	p.Ser139Arg	rs782309646	missense variant	-	NC_000011.10:g.69810610T>G	ExAC,gnomAD
FGF3	P11487	p.Thr140Met	rs782226740	missense variant	-	NC_000011.10:g.69810606G>A	NCI-TCGA,NCI-TCGA Cosmic
FGF3	P11487	p.Thr140Met	rs782226740	missense variant	-	NC_000011.10:g.69810606G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Pro141Arg	COSM415761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810603G>C	NCI-TCGA Cosmic
FGF3	P11487	p.Gly142Ala	rs782459734	missense variant	-	NC_000011.10:g.69810600C>G	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Gly142Val	rs782459734	missense variant	-	NC_000011.10:g.69810600C>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ala143Val	rs1554980363	missense variant	-	NC_000011.10:g.69810597G>A	gnomAD
FGF3	P11487	p.Arg144His	rs781807006	missense variant	-	NC_000011.10:g.69810594C>T	NCI-TCGA
FGF3	P11487	p.Arg144Cys	rs1242191483	missense variant	-	NC_000011.10:g.69810595G>A	TOPMed,gnomAD
FGF3	P11487	p.Arg144His	rs781807006	missense variant	-	NC_000011.10:g.69810594C>T	ExAC,gnomAD
FGF3	P11487	p.Arg144Pro	rs781807006	missense variant	-	NC_000011.10:g.69810594C>G	ExAC,gnomAD
FGF3	P11487	p.Arg144Leu	rs781807006	missense variant	-	NC_000011.10:g.69810594C>A	ExAC,gnomAD
FGF3	P11487	p.Arg145Pro	rs782088765	missense variant	-	NC_000011.10:g.69810591C>G	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg145Gln	rs782088765	missense variant	-	NC_000011.10:g.69810591C>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg145Trp	rs577116996	missense variant	-	NC_000011.10:g.69810592G>A	1000Genomes,ExAC,gnomAD
FGF3	P11487	p.Pro147Arg	rs1004481058	missense variant	-	NC_000011.10:g.69810585G>C	gnomAD
FGF3	P11487	p.Ser148Arg	rs566764532	missense variant	-	NC_000011.10:g.69810581G>C	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ala149Thr	rs1156753470	missense variant	-	NC_000011.10:g.69810580C>T	TOPMed,gnomAD
FGF3	P11487	p.Glu150Gln	rs200088042	missense variant	-	NC_000011.10:g.69810577C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Glu150Lys	rs200088042	missense variant	-	NC_000011.10:g.69810577C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Glu150Asp	rs1554980352	missense variant	-	NC_000011.10:g.69810575C>G	gnomAD
FGF3	P11487	p.Glu150Ter	rs200088042	stop gained	-	NC_000011.10:g.69810577C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg151Ile	rs782008134	missense variant	-	NC_000011.10:g.69810573C>A	ExAC,gnomAD
FGF3	P11487	p.Leu152Pro	rs1554980351	missense variant	-	NC_000011.10:g.69810570A>G	gnomAD
FGF3	P11487	p.Trp153Ter	RCV000022694	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810567_69810568CA[1]	ClinVar
FGF3	P11487	p.Tyr154Ter	RCV000770820	nonsense	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810563G>C	ClinVar
FGF3	P11487	p.Tyr154Ter	rs782712529	stop gained	-	NC_000011.10:g.69810563G>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Val155Met	rs143483033	missense variant	-	NC_000011.10:g.69810562C>T	NCI-TCGA
FGF3	P11487	p.Val155Met	rs143483033	missense variant	-	NC_000011.10:g.69810562C>T	ESP,ExAC,gnomAD
FGF3	P11487	p.Val155Leu	rs143483033	missense variant	-	NC_000011.10:g.69810562C>G	ESP,ExAC,gnomAD
FGF3	P11487	p.Val155Leu	rs143483033	missense variant	-	NC_000011.10:g.69810562C>A	ESP,ExAC,gnomAD
FGF3	P11487	p.Ser156Pro	rs121917703	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69810559A>G	UniProt,dbSNP
FGF3	P11487	p.Ser156Pro	VAR_031848	missense variant	Deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	NC_000011.10:g.69810559A>G	UniProt
FGF3	P11487	p.Ser156Pro	rs121917703	missense variant	-	NC_000011.10:g.69810559A>G	ExAC
FGF3	P11487	p.Ser156Pro	RCV000014849	missense variant	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810559A>G	ClinVar
FGF3	P11487	p.Asn158Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810552T>A	NCI-TCGA
FGF3	P11487	p.Asn158His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810553T>G	NCI-TCGA
FGF3	P11487	p.Gly159Ser	rs138021053	missense variant	-	NC_000011.10:g.69810550C>T	TOPMed,gnomAD
FGF3	P11487	p.Gly159Arg	rs138021053	missense variant	-	NC_000011.10:g.69810550C>G	TOPMed,gnomAD
FGF3	P11487	p.Gly159Asp	rs1554980341	missense variant	-	NC_000011.10:g.69810549C>T	gnomAD
FGF3	P11487	p.Lys160Gln	rs1554980339	missense variant	-	NC_000011.10:g.69810547T>G	gnomAD
FGF3	P11487	p.Arg162Trp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810541G>A	NCI-TCGA
FGF3	P11487	p.Arg162Gln	rs782194323	missense variant	-	NC_000011.10:g.69810540C>T	ExAC,gnomAD
FGF3	P11487	p.Arg162Leu	rs782194323	missense variant	-	NC_000011.10:g.69810540C>A	ExAC,gnomAD
FGF3	P11487	p.Arg164His	rs782573423	missense variant	-	NC_000011.10:g.69810534C>T	ExAC,gnomAD
FGF3	P11487	p.Arg164Cys	rs1335560620	missense variant	-	NC_000011.10:g.69810535G>A	TOPMed,gnomAD
FGF3	P11487	p.Gly166Ser	rs1440586250	missense variant	-	NC_000011.10:g.69810529C>T	TOPMed
FGF3	P11487	p.Lys168Arg	rs1554980334	missense variant	-	NC_000011.10:g.69810522T>C	gnomAD
FGF3	P11487	p.Thr169Pro	rs782653936	missense variant	-	NC_000011.10:g.69810520T>G	ExAC,gnomAD
FGF3	P11487	p.Arg170His	rs782801923	missense variant	-	NC_000011.10:g.69810516C>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg170Leu	rs782801923	missense variant	-	NC_000011.10:g.69810516C>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg170Cys	rs782512706	missense variant	-	NC_000011.10:g.69810517G>A	ExAC,gnomAD
FGF3	P11487	p.Arg171Cys	rs1262110871	missense variant	-	NC_000011.10:g.69810514G>A	NCI-TCGA
FGF3	P11487	p.Arg171His	rs35983315	missense variant	-	NC_000011.10:g.69810513C>T	NCI-TCGA
FGF3	P11487	p.Arg171AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.69810514G>-	NCI-TCGA
FGF3	P11487	p.Arg171His	rs35983315	missense variant	-	NC_000011.10:g.69810513C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg171Cys	rs1262110871	missense variant	-	NC_000011.10:g.69810514G>A	TOPMed,gnomAD
FGF3	P11487	p.Arg171Ser	rs1262110871	missense variant	-	NC_000011.10:g.69810514G>T	TOPMed,gnomAD
FGF3	P11487	p.Thr172Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810511T>C	NCI-TCGA
FGF3	P11487	p.Lys174Asn	rs782745138	missense variant	-	NC_000011.10:g.69810503C>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ser176Phe	COSM4498791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810498G>A	NCI-TCGA Cosmic
FGF3	P11487	p.Phe178Leu	rs782081344	missense variant	-	NC_000011.10:g.69810491G>C	ExAC,gnomAD
FGF3	P11487	p.Pro180His	rs782000580	missense variant	-	NC_000011.10:g.69810486G>T	ExAC,gnomAD
FGF3	P11487	p.Pro180Thr	rs1554980328	missense variant	-	NC_000011.10:g.69810487G>T	gnomAD
FGF3	P11487	p.Arg181His	rs782147248	missense variant	-	NC_000011.10:g.69810483C>T	NCI-TCGA,NCI-TCGA Cosmic
FGF3	P11487	p.Arg181Leu	rs782147248	missense variant	-	NC_000011.10:g.69810483C>A	ExAC,gnomAD
FGF3	P11487	p.Arg181Cys	rs782761826	missense variant	-	NC_000011.10:g.69810484G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg181His	rs782147248	missense variant	-	NC_000011.10:g.69810483C>T	ExAC,gnomAD
FGF3	P11487	p.Val182Met	rs781935233	missense variant	-	NC_000011.10:g.69810481C>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Leu183Pro	rs782314755	missense variant	-	NC_000011.10:g.69810477A>G	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Asp184Gly	rs782227926	missense variant	-	NC_000011.10:g.69810474T>C	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Asp184Val	rs782227926	missense variant	-	NC_000011.10:g.69810474T>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.His185Pro	rs143175848	missense variant	-	NC_000011.10:g.69810471T>G	ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg186Gly	rs1554980325	missense variant	-	NC_000011.10:g.69810469T>C	gnomAD
FGF3	P11487	p.Asp187Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810466C>A	NCI-TCGA
FGF3	P11487	p.Asp187Glu	rs1554980324	missense variant	-	NC_000011.10:g.69810464G>T	gnomAD
FGF3	P11487	p.His188Gln	rs113473565	missense variant	-	NC_000011.10:g.69810461G>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.His188Arg	rs1554980323	missense variant	-	NC_000011.10:g.69810462T>C	gnomAD
FGF3	P11487	p.Glu189Lys	rs868995912	missense variant	-	NC_000011.10:g.69810460C>T	gnomAD
FGF3	P11487	p.Glu189Lys	rs868995912	missense variant	-	NC_000011.10:g.69810460C>T	NCI-TCGA Cosmic
FGF3	P11487	p.Met190Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810457T>C	NCI-TCGA
FGF3	P11487	p.Met190Ile	rs369547972	missense variant	-	NC_000011.10:g.69810455C>T	ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg192Gln	rs1168737490	missense variant	-	NC_000011.10:g.69810450C>T	TOPMed
FGF3	P11487	p.Gln195His	rs115545058	missense variant	-	NC_000011.10:g.69810440C>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ser196Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810437A>C	NCI-TCGA
FGF3	P11487	p.Ser196Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810438C>A	NCI-TCGA
FGF3	P11487	p.Gly197Glu	rs754817690	missense variant	-	NC_000011.10:g.69810435C>T	TOPMed,gnomAD
FGF3	P11487	p.Arg200Lys	rs1554980316	missense variant	-	NC_000011.10:g.69810426C>T	gnomAD
FGF3	P11487	p.Arg200Lys	rs1554980316	missense variant	-	NC_000011.10:g.69810426C>T	NCI-TCGA
FGF3	P11487	p.Arg200Ter	rs1305463722	stop gained	-	NC_000011.10:g.69810427T>A	TOPMed,gnomAD
FGF3	P11487	p.Pro201Leu	rs1405021536	missense variant	-	NC_000011.10:g.69810423G>A	TOPMed
FGF3	P11487	p.Pro201Ser	rs782556280	missense variant	-	NC_000011.10:g.69810424G>A	ExAC,gnomAD
FGF3	P11487	p.Pro202Ser	rs782491968	missense variant	-	NC_000011.10:g.69810421G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Gly203Ser	rs547457011	missense variant	-	NC_000011.10:g.69810418C>T	1000Genomes
FGF3	P11487	p.Lys204Thr	rs781819367	missense variant	-	NC_000011.10:g.69810414T>G	ExAC,gnomAD
FGF3	P11487	p.Val206Phe	rs535882027	missense variant	-	NC_000011.10:g.69810409C>A	1000Genomes,gnomAD
FGF3	P11487	p.Val206Ter	RCV000014851	frameshift	Deafness with labyrinthine aplasia microtia and microdontia (LAMM)	NC_000011.10:g.69810413del	ClinVar
FGF3	P11487	p.Val206Ile	rs535882027	missense variant	-	NC_000011.10:g.69810409C>T	1000Genomes,gnomAD
FGF3	P11487	p.Val206Leu	rs535882027	missense variant	-	NC_000011.10:g.69810409C>G	1000Genomes,gnomAD
FGF3	P11487	p.Val206Ala	rs782503976	missense variant	-	NC_000011.10:g.69810408A>G	ExAC,gnomAD
FGF3	P11487	p.Pro208Ser	rs910069209	missense variant	-	NC_000011.10:g.69810403G>A	TOPMed,gnomAD
FGF3	P11487	p.Arg209Ter	rs374453035	stop gained	-	NC_000011.10:g.69810400G>A	ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg209Gln	rs782047997	missense variant	-	NC_000011.10:g.69810399C>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg210Trp	rs369755339	missense variant	-	NC_000011.10:g.69810397G>A	NCI-TCGA
FGF3	P11487	p.Arg210Trp	rs369755339	missense variant	-	NC_000011.10:g.69810397G>A	ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg210Gln	rs115452181	missense variant	-	NC_000011.10:g.69810396C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg211Gln	rs1221660991	missense variant	-	NC_000011.10:g.69810393C>T	TOPMed,gnomAD
FGF3	P11487	p.Arg211Leu	rs1221660991	missense variant	-	NC_000011.10:g.69810393C>A	TOPMed,gnomAD
FGF3	P11487	p.Arg211Trp	rs1554980307	missense variant	-	NC_000011.10:g.69810394G>A	gnomAD
FGF3	P11487	p.Arg212Gln	rs377265856	missense variant	-	NC_000011.10:g.69810390C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg212Trp	rs1554980306	missense variant	-	NC_000011.10:g.69810391G>A	gnomAD
FGF3	P11487	p.Arg212Leu	rs377265856	missense variant	-	NC_000011.10:g.69810390C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF3	P11487	p.Gln215Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.69810381T>A	NCI-TCGA
FGF3	P11487	p.Ser216Asn	rs1554980302	missense variant	-	NC_000011.10:g.69810378C>T	gnomAD
FGF3	P11487	p.Pro217Arg	rs781929547	missense variant	-	NC_000011.10:g.69810375G>C	ExAC,gnomAD
FGF3	P11487	p.Asp218Glu	rs1424524679	missense variant	-	NC_000011.10:g.69810371A>C	TOPMed
FGF3	P11487	p.Asp218Asn	COSM1356616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810373C>T	NCI-TCGA Cosmic
FGF3	P11487	p.Asn219Asp	rs1554980299	missense variant	-	NC_000011.10:g.69810370T>C	gnomAD
FGF3	P11487	p.Leu220Pro	rs1554980298	missense variant	-	NC_000011.10:g.69810366A>G	gnomAD
FGF3	P11487	p.Ser223Pro	rs782607197	missense variant	-	NC_000011.10:g.69810358A>G	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ser223Phe	rs1387906058	missense variant	-	NC_000011.10:g.69810357G>A	TOPMed,gnomAD
FGF3	P11487	p.His224Gln	rs375708730	missense variant	-	NC_000011.10:g.69810353G>T	gnomAD
FGF3	P11487	p.Val225Ile	rs782246758	missense variant	-	NC_000011.10:g.69810352C>T	NCI-TCGA,NCI-TCGA Cosmic
FGF3	P11487	p.Val225Ile	rs782246758	missense variant	-	NC_000011.10:g.69810352C>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Val225Phe	rs782246758	missense variant	-	NC_000011.10:g.69810352C>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ala227Thr	rs782683196	missense variant	-	NC_000011.10:g.69810346C>T	ExAC,gnomAD
FGF3	P11487	p.Ser228Leu	rs782454437	missense variant	-	NC_000011.10:g.69810342G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Arg229Lys	rs782554596	missense variant	-	NC_000011.10:g.69810339C>T	gnomAD
FGF3	P11487	p.Arg229Thr	rs782554596	missense variant	-	NC_000011.10:g.69810339C>G	gnomAD
FGF3	P11487	p.Arg229Ile	rs782554596	missense variant	-	NC_000011.10:g.69810339C>A	gnomAD
FGF3	P11487	p.Leu230Val	rs782612620	missense variant	-	NC_000011.10:g.69810337G>C	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Leu230Arg	rs1554980292	missense variant	-	NC_000011.10:g.69810336A>C	gnomAD
FGF3	P11487	p.Ser232Phe	COSM3452641	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.69810330G>A	NCI-TCGA Cosmic
FGF3	P11487	p.Gln233Lys	rs782483681	missense variant	-	NC_000011.10:g.69810328G>T	ExAC
FGF3	P11487	p.Leu234Pro	rs781875396	missense variant	-	NC_000011.10:g.69810324A>G	ExAC,gnomAD
FGF3	P11487	p.Glu235Lys	rs1554980287	missense variant	-	NC_000011.10:g.69810322C>T	gnomAD
FGF3	P11487	p.Ala236Gly	rs1359915834	missense variant	-	NC_000011.10:g.69810318G>C	TOPMed
FGF3	P11487	p.Ser237Thr	rs782781457	missense variant	-	NC_000011.10:g.69810315C>G	ExAC,gnomAD
FGF3	P11487	p.Ala238Val	rs782166974	missense variant	-	NC_000011.10:g.69810312G>A	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ala238Glu	rs782166974	missense variant	-	NC_000011.10:g.69810312G>T	ExAC,TOPMed,gnomAD
FGF3	P11487	p.Ter240Gln	rs1554980283	stop lost	-	NC_000011.10:g.69810307A>G	gnomAD
DMD	P11532	p.Lys18Asn	VAR_023537	Missense	Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]	-	UniProt
DMD	P11532	p.Phe32_Leu62del	VAR_005146	inframe_deletion	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
DMD	P11532	p.Leu54Arg	VAR_005147	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
DMD	P11532	p.Trp118Arg	VAR_065764	Missense	-	-	UniProt
DMD	P11532	p.Asp165Val	VAR_023538	Missense	-	-	UniProt
DMD	P11532	p.Ala168Asp	VAR_005149	Missense	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
DMD	P11532	p.Ala171Pro	VAR_023539	Missense	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
DMD	P11532	p.Tyr231Asn	VAR_005150	Missense	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
DMD	P11532	p.Thr279Ala	VAR_023540	Missense	Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]	-	UniProt
DMD	P11532	p.Leu334Phe	VAR_036353	Missense	-	-	UniProt
DMD	P11532	p.Thr409Ser	rs34155804	missense variant	-	NC_000023.11:g.32644238T>A	UniProt,dbSNP
DMD	P11532	p.Thr409Ser	VAR_057642	missense variant	-	NC_000023.11:g.32644238T>A	UniProt
DMD	P11532	p.Val495_Lys534del	VAR_005152	inframe_deletion	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
DMD	P11532	p.Asp645Gly	VAR_023541	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
DMD	P11532	p.Ser666Leu	rs34563188	missense variant	-	NC_000023.11:g.32545330G>A	UniProt,dbSNP
DMD	P11532	p.Ser666Leu	VAR_062110	missense variant	-	NC_000023.11:g.32545330G>A	UniProt
DMD	P11532	p.Lys773Glu	VAR_005154	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
DMD	P11532	p.Asp882Gly	rs228406	missense variant	-	NC_000023.11:g.32485077T>C	UniProt,dbSNP
DMD	P11532	p.Asp882Gly	VAR_005156	missense variant	-	NC_000023.11:g.32485077T>C	UniProt
DMD	P11532	p.Thr1136Ser	rs3827462	missense variant	-	NC_000023.11:g.32463465T>A	UniProt,dbSNP
DMD	P11532	p.Thr1136Ser	VAR_057645	missense variant	-	NC_000023.11:g.32463465T>A	UniProt
DMD	P11532	p.Glu1219Gln	VAR_036354	Missense	-	-	UniProt
DMD	P11532	p.Gln1469Leu	rs1057872	missense variant	-	NC_000023.11:g.32389613T>A	UniProt,dbSNP
DMD	P11532	p.Gln1469Leu	VAR_005161	missense variant	-	NC_000023.11:g.32389613T>A	UniProt
DMD	P11532	p.Arg1470His	VAR_036355	Missense	-	-	UniProt
DMD	P11532	p.Ala2164Val	VAR_036356	Missense	-	-	UniProt
DMD	P11532	p.Arg2191Trp	VAR_005165	Missense	-	-	UniProt
DMD	P11532	p.Asn2299Thr	VAR_023543	Missense	-	-	UniProt
DMD	P11532	p.Val2305_Lys2366del	VAR_005166	inframe_deletion	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
DMD	P11532	p.Glu2910Val	rs41305353	missense variant	-	NC_000023.11:g.31478314T>A	UniProt,dbSNP
DMD	P11532	p.Glu2910Val	VAR_005168	missense variant	-	NC_000023.11:g.31478314T>A	UniProt
DMD	P11532	p.Phe3228Leu	VAR_023544	Missense	Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]	-	UniProt
DMD	P11532	p.Cys3313Phe	VAR_023545	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
DMD	P11532	p.Asp3335His	VAR_023546	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
DMD	P11532	p.Cys3340Tyr	VAR_023547	Missense	Duchenne muscular dystrophy (DMD) [MIM:310200]	-	UniProt
DMD	P11532	p.Ala3421Val	VAR_005172	Missense	Becker muscular dystrophy (BMD) [MIM:300376]	-	UniProt
MTHFD1	P11586	p.Glu11Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64388460G>T	NCI-TCGA
MTHFD1	P11586	p.Ile12Asn	COSM470118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64388462T>A	NCI-TCGA Cosmic
MTHFD1	P11586	p.Arg46Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64411100G>C	NCI-TCGA
MTHFD1	P11586	p.Ser49Phe	rs370444838	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411109C>T	UniProt,dbSNP
MTHFD1	P11586	p.Ser49Phe	VAR_074075	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411109C>T	UniProt
MTHFD1	P11586	p.Leu51Pro	rs1555336810	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411115T>C	UniProt,dbSNP
MTHFD1	P11586	p.Leu51Pro	VAR_080873	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411115T>C	UniProt
MTHFD1	P11586	p.Asn54Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64411124A>T	NCI-TCGA
MTHFD1	P11586	p.Leu72Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.64412500T>G	NCI-TCGA
MTHFD1	P11586	p.Thr76Ile	COSM3497002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64412512C>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Ser79Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64412521C>T	NCI-TCGA
MTHFD1	P11586	p.Ser79Cys	COSM1477686	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64412521C>G	NCI-TCGA Cosmic
MTHFD1	P11586	p.Met82Ile	COSM698996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64415363G>A	NCI-TCGA Cosmic
MTHFD1	P11586	p.Ser87Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64415377C>G	NCI-TCGA
MTHFD1	P11586	p.Ser92Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64415392C>G	NCI-TCGA
MTHFD1	P11586	p.Val94TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64415393_64415397TACTG>-	NCI-TCGA
MTHFD1	P11586	p.Ser105Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64415431C>T	NCI-TCGA
MTHFD1	P11586	p.Glu106Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64415433G>C	NCI-TCGA
MTHFD1	P11586	p.Ser108Phe	COSM3886204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64415440C>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Asp123Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64415485A>G	NCI-TCGA
MTHFD1	P11586	p.Arg134Lys	rs1950902	missense variant	-	NC_000014.9:g.64415662A>G	UniProt,dbSNP
MTHFD1	P11586	p.Arg134Lys	VAR_016232	missense variant	-	NC_000014.9:g.64415662A>G	UniProt
MTHFD1	P11586	p.Arg134Lys	VAR_016232	Missense	-	-	UniProt
MTHFD1	P11586	p.Val171Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64417920G>A	NCI-TCGA
MTHFD1	P11586	p.Leu185AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64417960_64417961insG	NCI-TCGA
MTHFD1	P11586	p.Trp187Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64417969G>T	NCI-TCGA
MTHFD1	P11586	p.Gly209Ala	COSM75473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64419824G>C	NCI-TCGA Cosmic
MTHFD1	P11586	p.Glu225_Phe935del	VAR_080874	inframe_deletion	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780]	-	UniProt
MTHFD1	P11586	p.Gly230Val	COSM4932774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64419887G>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Ala231Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64419889G>A	NCI-TCGA
MTHFD1	P11586	p.Pro247ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64424808_64424809insA	NCI-TCGA
MTHFD1	P11586	p.Val253Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64424833G>T	NCI-TCGA
MTHFD1	P11586	p.Ala261Val	COSM433242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64424858C>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Glu263Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64424865G>C	NCI-TCGA
MTHFD1	P11586	p.Thr269Ile	rs1555337681	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64424882C>T	UniProt,dbSNP
MTHFD1	P11586	p.Thr269Ile	VAR_074077	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64424882C>T	UniProt
MTHFD1	P11586	p.Gln285Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64424930A>G	NCI-TCGA
MTHFD1	P11586	p.Arg293His	rs34181110	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64425752G>A	UniProt,dbSNP
MTHFD1	P11586	p.Arg293His	VAR_010241	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64425752G>A	UniProt
MTHFD1	P11586	p.Trp303Ter	COSM138938	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.64425783G>A	NCI-TCGA Cosmic
MTHFD1	P11586	p.Lys333Glu	COSM3497006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64426062A>G	NCI-TCGA Cosmic
MTHFD1	P11586	p.Tyr371Cys	COSM956987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64426177A>G	NCI-TCGA Cosmic
MTHFD1	P11586	p.Thr378Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64427342C>T	NCI-TCGA
MTHFD1	P11586	p.Pro379Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64427345C>A	NCI-TCGA
MTHFD1	P11586	p.Pro379Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64427345C>T	NCI-TCGA
MTHFD1	P11586	p.Ser413Phe	COSM3815107	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64427447C>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Gln414Ter	COSM3815109	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.64427449C>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Gln431Arg	COSM4051796	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64430211A>G	NCI-TCGA Cosmic
MTHFD1	P11586	p.Met435Ile	COSM3497008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64430224G>A	NCI-TCGA Cosmic
MTHFD1	P11586	p.Glu437Lys	COSM3497010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64430228G>A	NCI-TCGA Cosmic
MTHFD1	P11586	p.Leu440Phe	COSM4824914	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64431538C>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Ala459Thr	COSM1370558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64431595G>A	NCI-TCGA Cosmic
MTHFD1	P11586	p.His466Tyr	COSM3497016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64431616C>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Phe489Tyr	COSM433244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64431833T>A	NCI-TCGA Cosmic
MTHFD1	P11586	p.Glu514Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64435614G>C	NCI-TCGA
MTHFD1	P11586	p.Ser564Cys	COSM433245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64440142C>G	NCI-TCGA Cosmic
MTHFD1	P11586	p.Val565Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64440145T>C	NCI-TCGA
MTHFD1	P11586	p.Glu568CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64440151_64440161GTGAAATTATG>-	NCI-TCGA
MTHFD1	P11586	p.Ile569Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64440157T>G	NCI-TCGA
MTHFD1	P11586	p.Ala571Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64440162G>A	NCI-TCGA
MTHFD1	P11586	p.Ala574Val	COSM3497018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64440172C>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Lys596Thr	COSM1370560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64440238A>C	NCI-TCGA Cosmic
MTHFD1	P11586	p.Glu628Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64441453G>T	NCI-TCGA
MTHFD1	P11586	p.Pro631Ala	COSM698992	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64442060C>G	NCI-TCGA Cosmic
MTHFD1	P11586	p.Ser648Phe	COSM3370024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64442112C>T	NCI-TCGA Cosmic
MTHFD1	P11586	p.Arg653Gln	rs2236225	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64442127G>A	UniProt,dbSNP
MTHFD1	P11586	p.Arg653Gln	VAR_010251	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64442127G>A	UniProt
MTHFD1	P11586	p.Glu662Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.64442153G>T	NCI-TCGA
MTHFD1	P11586	p.Asn682Ter	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64442303_64442304insT	NCI-TCGA
MTHFD1	P11586	p.Ile683Met	COSM1300751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64442315C>G	NCI-TCGA Cosmic
MTHFD1	P11586	p.His707Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64442386A>T	NCI-TCGA
MTHFD1	P11586	p.Pro711Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64442397C>T	NCI-TCGA
MTHFD1	P11586	p.Gly716Glu	COSM6075942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64444703G>A	NCI-TCGA Cosmic
MTHFD1	P11586	p.Pro720Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64444714C>T	NCI-TCGA
MTHFD1	P11586	p.Gln741HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64448260_64448261AA>-	NCI-TCGA
MTHFD1	P11586	p.Asn757His	COSM3987732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64448307A>C	NCI-TCGA Cosmic
MTHFD1	P11586	p.Glu764Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64449455G>A	NCI-TCGA
MTHFD1	P11586	p.Gly778Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64449498G>T	NCI-TCGA
MTHFD1	P11586	p.Ala789Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64449530G>A	NCI-TCGA
MTHFD1	P11586	p.Gly792AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64449536G>-	NCI-TCGA
MTHFD1	P11586	p.Ala795Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64449548G>A	NCI-TCGA
MTHFD1	P11586	p.Gln846Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.64453832C>T	NCI-TCGA
MTHFD1	P11586	p.Lys848Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64453838A>C	NCI-TCGA
MTHFD1	P11586	p.Ile862Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64454741A>C	NCI-TCGA
MTHFD1	P11586	p.Pro875Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64454780C>G	NCI-TCGA
MTHFD1	P11586	p.Lys878Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64454791A>C	NCI-TCGA
MTHFD1	P11586	p.Gly879ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64454787A>-	NCI-TCGA
MTHFD1	P11586	p.Thr882Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64454802C>T	NCI-TCGA
MTHFD1	P11586	p.Phe884Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.64454807T>A	NCI-TCGA
MTHFD1	P11586	p.Met910Thr	COSM3987734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.64458224T>C	NCI-TCGA Cosmic
MTHFD1	P11586	p.Pro917AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64458242_64458243insT	NCI-TCGA
MTHFD1	P11586	p.Glu929AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.64458281_64458282insC	NCI-TCGA
MTHFD1	P11586	p.Ala2Val	rs1350382413	missense variant	-	NC_000014.9:g.64388432C>T	gnomAD
MTHFD1	P11586	p.Pro3Thr	rs779025815	missense variant	-	NC_000014.9:g.64388434C>A	ExAC,gnomAD
MTHFD1	P11586	p.Ala4Thr	rs1486413809	missense variant	-	NC_000014.9:g.64388437G>A	gnomAD
MTHFD1	P11586	p.Lys10Arg	rs771986837	missense variant	-	NC_000014.9:g.64388456A>G	ExAC,gnomAD
MTHFD1	P11586	p.Lys10Ter	rs1421744468	stop gained	-	NC_000014.9:g.64388455A>T	TOPMed,gnomAD
MTHFD1	P11586	p.Ile12Leu	rs375021291	missense variant	-	NC_000014.9:g.64388461A>C	ESP,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Ile12Met	rs746957800	missense variant	-	NC_000014.9:g.64388463C>G	ExAC,gnomAD
MTHFD1	P11586	p.Ala14Thr	rs1156883407	missense variant	-	NC_000014.9:g.64388467G>A	gnomAD
MTHFD1	P11586	p.Ala14Pro	rs1156883407	missense variant	-	NC_000014.9:g.64388467G>C	gnomAD
MTHFD1	P11586	p.Ala18Val	rs151019303	missense variant	-	NC_000014.9:g.64400804C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Ala18Ser	rs1370226156	missense variant	-	NC_000014.9:g.64400803G>T	gnomAD
MTHFD1	P11586	p.Leu20Val	rs769472633	missense variant	-	NC_000014.9:g.64400809C>G	ExAC,gnomAD
MTHFD1	P11586	p.Leu20Met	rs769472633	missense variant	-	NC_000014.9:g.64400809C>A	ExAC,gnomAD
MTHFD1	P11586	p.Asn22Asp	rs1219161558	missense variant	-	NC_000014.9:g.64400815A>G	gnomAD
MTHFD1	P11586	p.Gln23Glu	rs1299571902	missense variant	-	NC_000014.9:g.64400818C>G	gnomAD
MTHFD1	P11586	p.Gln23Arg	rs548084343	missense variant	-	NC_000014.9:g.64400819A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Leu27Ser	rs1201820242	missense variant	-	NC_000014.9:g.64400831T>C	gnomAD
MTHFD1	P11586	p.Lys28Asn	rs202203749	missense variant	-	NC_000014.9:g.64400835G>T	1000Genomes
MTHFD1	P11586	p.Thr35Ile	rs770520740	missense variant	-	NC_000014.9:g.64400855C>T	ExAC,gnomAD
MTHFD1	P11586	p.Arg37Cys	rs111509453	missense variant	-	NC_000014.9:g.64400860C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Arg37His	rs905506733	missense variant	-	NC_000014.9:g.64400861G>A	TOPMed,gnomAD
MTHFD1	P11586	p.Arg37Ser	rs111509453	missense variant	-	NC_000014.9:g.64400860C>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Arg46Gly	rs1420265873	missense variant	-	NC_000014.9:g.64411099A>G	gnomAD
MTHFD1	P11586	p.Asp47Gly	rs1404806244	missense variant	-	NC_000014.9:g.64411103A>G	gnomAD
MTHFD1	P11586	p.Ser49Phe	rs370444838	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411109C>T	UniProt,dbSNP
MTHFD1	P11586	p.Ser49Phe	VAR_074075	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411109C>T	UniProt
MTHFD1	P11586	p.Ser49Phe	rs370444838	missense variant	-	NC_000014.9:g.64411109C>T	ESP,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Leu51Pro	rs1555336810	missense variant	-	NC_000014.9:g.64411115T>C	-
MTHFD1	P11586	p.Leu51Pro	rs1555336810	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411115T>C	UniProt,dbSNP
MTHFD1	P11586	p.Leu51Pro	VAR_080873	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64411115T>C	UniProt
MTHFD1	P11586	p.Asn54His	rs1373276327	missense variant	-	NC_000014.9:g.64411123A>C	TOPMed,gnomAD
MTHFD1	P11586	p.Lys56Glu	rs199580141	missense variant	-	NC_000014.9:g.64411129A>G	1000Genomes
MTHFD1	P11586	p.Leu57Pro	rs201222323	missense variant	-	NC_000014.9:g.64411133T>C	1000Genomes
MTHFD1	P11586	p.Lys58Arg	rs201428609	missense variant	-	NC_000014.9:g.64411136A>G	1000Genomes
MTHFD1	P11586	p.Gly64Arg	rs79567761	missense variant	-	NC_000014.9:g.64412475G>A	gnomAD
MTHFD1	P11586	p.Gly64Trp	rs79567761	missense variant	-	NC_000014.9:g.64412475G>T	gnomAD
MTHFD1	P11586	p.Ile70Thr	rs770329036	missense variant	-	NC_000014.9:g.64412494T>C	ExAC,gnomAD
MTHFD1	P11586	p.Lys71Asn	rs548975422	missense variant	-	NC_000014.9:g.64412498G>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Thr75Ser	rs766740356	missense variant	-	NC_000014.9:g.64412508A>T	ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Thr77Ser	rs1442003297	missense variant	-	NC_000014.9:g.64412514A>T	gnomAD
MTHFD1	P11586	p.Glu80Asp	rs774367364	missense variant	-	NC_000014.9:g.64412525G>C	ExAC,gnomAD
MTHFD1	P11586	p.Met82Val	rs773648963	missense variant	-	NC_000014.9:g.64415361A>G	ExAC,gnomAD
MTHFD1	P11586	p.Lys83Thr	rs1229310515	missense variant	-	NC_000014.9:g.64415365A>C	TOPMed
MTHFD1	P11586	p.Tyr84His	rs1327286619	missense variant	-	NC_000014.9:g.64415367T>C	TOPMed
MTHFD1	P11586	p.Ile85Thr	rs749797874	missense variant	-	NC_000014.9:g.64415371T>C	ExAC,gnomAD
MTHFD1	P11586	p.Thr86Ile	rs771242447	missense variant	-	NC_000014.9:g.64415374C>T	ExAC,gnomAD
MTHFD1	P11586	p.Thr86Pro	rs1417725278	missense variant	-	NC_000014.9:g.64415373A>C	gnomAD
MTHFD1	P11586	p.Glu90Asp	rs1377383778	missense variant	-	NC_000014.9:g.64415387A>C	gnomAD
MTHFD1	P11586	p.Asp91Val	rs1312528186	missense variant	-	NC_000014.9:g.64415389A>T	TOPMed
MTHFD1	P11586	p.Ser92Tyr	rs961052260	missense variant	-	NC_000014.9:g.64415392C>A	TOPMed
MTHFD1	P11586	p.His95Pro	rs775425863	missense variant	-	NC_000014.9:g.64415401A>C	ExAC,gnomAD
MTHFD1	P11586	p.His95Arg	rs775425863	missense variant	-	NC_000014.9:g.64415401A>G	ExAC,gnomAD
MTHFD1	P11586	p.His95Tyr	rs1396493230	missense variant	-	NC_000014.9:g.64415400C>T	gnomAD
MTHFD1	P11586	p.Gln100Ter	rs1329424461	stop gained	-	NC_000014.9:g.64415415C>T	gnomAD
MTHFD1	P11586	p.Glu106Ter	rs764919087	stop gained	-	NC_000014.9:g.64415433G>T	ExAC,gnomAD
MTHFD1	P11586	p.Ile109Val	rs1313485245	missense variant	-	NC_000014.9:g.64415442A>G	TOPMed
MTHFD1	P11586	p.Thr111Ser	rs945395304	missense variant	-	NC_000014.9:g.64415448A>T	TOPMed,gnomAD
MTHFD1	P11586	p.Val114Leu	rs1396799367	missense variant	-	NC_000014.9:g.64415457G>T	TOPMed,gnomAD
MTHFD1	P11586	p.Val114Ala	rs757985878	missense variant	-	NC_000014.9:g.64415458T>C	ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Asn116Ser	rs1267246674	missense variant	-	NC_000014.9:g.64415464A>G	gnomAD
MTHFD1	P11586	p.Ile118Met	rs754415147	missense variant	-	NC_000014.9:g.64415471T>G	ExAC,gnomAD
MTHFD1	P11586	p.Ile118Thr	rs1186810972	missense variant	-	NC_000014.9:g.64415470T>C	TOPMed
MTHFD1	P11586	p.Ile118Val	rs367651399	missense variant	-	NC_000014.9:g.64415469A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Pro120Ser	rs1254034887	missense variant	-	NC_000014.9:g.64415475C>T	gnomAD
MTHFD1	P11586	p.Glu121Lys	rs749742870	missense variant	-	NC_000014.9:g.64415478G>A	ExAC,gnomAD
MTHFD1	P11586	p.Val124Met	rs1371027931	missense variant	-	NC_000014.9:g.64415487G>A	gnomAD
MTHFD1	P11586	p.Leu127Ser	rs371410992	missense variant	-	NC_000014.9:g.64415641T>C	ESP,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Ile130Met	rs1474060489	missense variant	-	NC_000014.9:g.64415651C>G	TOPMed
MTHFD1	P11586	p.Ile130Val	rs375190456	missense variant	-	NC_000014.9:g.64415649A>G	ESP,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Asn131Ser	rs565379586	missense variant	-	NC_000014.9:g.64415653A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Ala132Gly	rs886765704	missense variant	-	NC_000014.9:g.64415656C>G	TOPMed
MTHFD1	P11586	p.Lys134Arg	rs1950902	missense variant	-	NC_000014.9:g.64415662A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Arg134Lys	rs1950902	missense variant	-	NC_000014.9:g.64415662A>G	UniProt,dbSNP
MTHFD1	P11586	p.Arg134Lys	VAR_016232	missense variant	-	NC_000014.9:g.64415662A>G	UniProt
MTHFD1	P11586	p.Arg134Lys	VAR_016232	Missense	-	-	UniProt
MTHFD1	P11586	p.Asn141Ser	rs1020228859	missense variant	-	NC_000014.9:g.64415683A>G	TOPMed,gnomAD
MTHFD1	P11586	p.Cys143Ser	rs967681060	missense variant	-	NC_000014.9:g.64415688T>A	gnomAD
MTHFD1	P11586	p.Cys143Ser	rs547825945	missense variant	-	NC_000014.9:g.64415689G>C	1000Genomes,ExAC,gnomAD
MTHFD1	P11586	p.Cys143Arg	rs967681060	missense variant	-	NC_000014.9:g.64415688T>C	gnomAD
MTHFD1	P11586	p.Cys147Tyr	rs1038238822	missense variant	-	NC_000014.9:g.64415701G>A	TOPMed
MTHFD1	P11586	p.Thr148Met	rs981354891	missense variant	-	NC_000014.9:g.64415704C>T	TOPMed,gnomAD
MTHFD1	P11586	p.Pro149Ser	rs1337292374	missense variant	-	NC_000014.9:g.64415706C>T	TOPMed
MTHFD1	P11586	p.Glu154Lys	rs1156585285	missense variant	-	NC_000014.9:g.64415721G>A	gnomAD
MTHFD1	P11586	p.Gly160Arg	rs201817260	missense variant	-	NC_000014.9:g.64415739G>C	ExAC,gnomAD
MTHFD1	P11586	p.Gly160Asp	rs776085756	missense variant	-	NC_000014.9:g.64419814G>A	ExAC,TOPMed,gnomAD
MTHFD1	P11586	p.Lys161Glu	rs1291334686	missense variant	-	NC_000014.9:g.64419816A>G	TOPMed,gnomAD
MTHFD1	P11586	p.Lys161Ile	rs1336926811	missense variant	-	NC_000014.9:g.64419817A>T	TOPMed,gnomAD
MTHFD1	P11586	p.Ter162Tyr	rs761591530	stop lost	-	NC_000014.9:g.64419821A>C	ExAC,gnomAD
MTHFD1	P11586	p.Glu225_Phe935del	VAR_080874	inframe_deletion	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH) [MIM:617780]	-	UniProt
MTHFD1	P11586	p.Thr269Ile	rs1555337681	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64424882C>T	UniProt,dbSNP
MTHFD1	P11586	p.Thr269Ile	VAR_074077	missense variant	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)	NC_000014.9:g.64424882C>T	UniProt
MTHFD1	P11586	p.Arg293His	rs34181110	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64425752G>A	UniProt,dbSNP
MTHFD1	P11586	p.Arg293His	VAR_010241	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64425752G>A	UniProt
MTHFD1	P11586	p.Arg653Gln	rs2236225	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64442127G>A	UniProt,dbSNP
MTHFD1	P11586	p.Arg653Gln	VAR_010251	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000014.9:g.64442127G>A	UniProt
IGF2R	P11717	p.Gly2Trp	rs1455059498	missense variant	-	NC_000006.12:g.159969250G>T	TOPMed
IGF2R	P11717	p.Ala5Thr	rs1439740339	missense variant	-	NC_000006.12:g.159969259G>A	gnomAD
IGF2R	P11717	p.Arg7Leu	rs1338226468	missense variant	-	NC_000006.12:g.159969266G>T	TOPMed,gnomAD
IGF2R	P11717	p.Arg7Gln	rs1338226468	missense variant	-	NC_000006.12:g.159969266G>A	TOPMed,gnomAD
IGF2R	P11717	p.Arg7Gly	rs1018663090	missense variant	-	NC_000006.12:g.159969265C>G	TOPMed,gnomAD
IGF2R	P11717	p.Ser8Thr	rs1310553936	missense variant	-	NC_000006.12:g.159969269G>C	TOPMed
IGF2R	P11717	p.Ser8Asn	rs1310553936	missense variant	-	NC_000006.12:g.159969269G>A	TOPMed
IGF2R	P11717	p.His10Asp	rs1451748083	missense variant	-	NC_000006.12:g.159969274C>G	TOPMed,gnomAD
IGF2R	P11717	p.His10Tyr	rs1451748083	missense variant	-	NC_000006.12:g.159969274C>T	TOPMed,gnomAD
IGF2R	P11717	p.His10Leu	rs1308344015	missense variant	-	NC_000006.12:g.159969275A>T	TOPMed
IGF2R	P11717	p.Gly12Glu	rs966179119	missense variant	-	NC_000006.12:g.159969281G>A	TOPMed
IGF2R	P11717	p.Gly12Arg	rs1375181020	missense variant	-	NC_000006.12:g.159969280G>C	TOPMed
IGF2R	P11717	p.Pro13Ser	rs1373132256	missense variant	-	NC_000006.12:g.159969283C>T	TOPMed
IGF2R	P11717	p.Pro13His	rs1355574470	missense variant	-	NC_000006.12:g.159969284C>A	gnomAD
IGF2R	P11717	p.Ala16Thr	rs1026381846	missense variant	-	NC_000006.12:g.159969292G>A	TOPMed,gnomAD
IGF2R	P11717	p.Arg17Gly	rs952359897	missense variant	-	NC_000006.12:g.159969295C>G	TOPMed,gnomAD
IGF2R	P11717	p.Arg17Cys	rs952359897	missense variant	-	NC_000006.12:g.159969295C>T	TOPMed,gnomAD
IGF2R	P11717	p.Arg18Leu	rs763605966	missense variant	-	NC_000006.12:g.159969299G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg18Ser	rs1201276099	missense variant	-	NC_000006.12:g.159969298C>A	gnomAD
IGF2R	P11717	p.Pro19Ser	rs1181541985	missense variant	-	NC_000006.12:g.159969301C>T	TOPMed
IGF2R	P11717	p.Gln20His	rs1183507601	missense variant	-	NC_000006.12:g.159969306G>T	gnomAD
IGF2R	P11717	p.Arg21His	rs764668970	missense variant	-	NC_000006.12:g.159969308G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg21Ser	rs1239392464	missense variant	-	NC_000006.12:g.159969307C>A	gnomAD
IGF2R	P11717	p.Arg21Leu	rs764668970	missense variant	-	NC_000006.12:g.159969308G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser22Cys	rs1401726747	missense variant	-	NC_000006.12:g.159969311C>G	TOPMed,gnomAD
IGF2R	P11717	p.Leu23Arg	rs1177214446	missense variant	-	NC_000006.12:g.159969314T>G	TOPMed,gnomAD
IGF2R	P11717	p.Leu23Pro	rs1177214446	missense variant	-	NC_000006.12:g.159969314T>C	TOPMed,gnomAD
IGF2R	P11717	p.Leu23Val	rs1285234028	missense variant	-	NC_000006.12:g.159969313C>G	TOPMed
IGF2R	P11717	p.Gln27Lys	rs751972253	missense variant	-	NC_000006.12:g.159969325C>A	ExAC,gnomAD
IGF2R	P11717	p.Leu31Phe	rs1444496810	missense variant	-	NC_000006.12:g.159969337C>T	TOPMed,gnomAD
IGF2R	P11717	p.Val32Phe	rs1414882479	missense variant	-	NC_000006.12:g.159969340G>T	TOPMed
IGF2R	P11717	p.Gly36Trp	rs992213511	missense variant	-	NC_000006.12:g.159969352G>T	TOPMed
IGF2R	P11717	p.Ser37Ala	rs1455780969	missense variant	-	NC_000006.12:g.159969355T>G	TOPMed
IGF2R	P11717	p.Thr38Met	rs945432521	missense variant	-	NC_000006.12:g.159969359C>T	TOPMed,gnomAD
IGF2R	P11717	p.Gln39Glu	rs753534364	missense variant	-	NC_000006.12:g.159969361C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln39Arg	rs1459447728	missense variant	-	NC_000006.12:g.159969362A>G	gnomAD
IGF2R	P11717	p.Gln39Lys	rs753534364	missense variant	-	NC_000006.12:g.159969361C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln41Lys	rs1194622706	missense variant	-	NC_000006.12:g.159969367C>A	gnomAD
IGF2R	P11717	p.Ala42Val	rs1250177140	missense variant	-	NC_000006.12:g.159969371C>T	TOPMed,gnomAD
IGF2R	P11717	p.Ala42Asp	rs1250177140	missense variant	-	NC_000006.12:g.159969371C>A	TOPMed,gnomAD
IGF2R	P11717	p.Ala43Thr	rs1434134895	missense variant	-	NC_000006.12:g.159969373G>A	gnomAD
IGF2R	P11717	p.Pro44Ser	rs1200540663	missense variant	-	NC_000006.12:g.159969376C>T	TOPMed,gnomAD
IGF2R	P11717	p.Pro44Thr	rs1200540663	missense variant	-	NC_000006.12:g.159969376C>A	TOPMed,gnomAD
IGF2R	P11717	p.Pro44Gln	rs1426814865	missense variant	-	NC_000006.12:g.159969377C>A	gnomAD
IGF2R	P11717	p.Glu47Asp	rs754611530	missense variant	-	NC_000006.12:g.159969387G>T	ExAC,gnomAD
IGF2R	P11717	p.Glu47Asp	rs754611530	missense variant	-	NC_000006.12:g.159969387G>C	ExAC,gnomAD
IGF2R	P11717	p.Cys49Gly	rs1486793595	missense variant	-	NC_000006.12:g.159969391T>G	TOPMed
IGF2R	P11717	p.Ser50Arg	rs1425077636	missense variant	-	NC_000006.12:g.159991184T>A	gnomAD
IGF2R	P11717	p.Tyr51Asp	rs1187814366	missense variant	-	NC_000006.12:g.159991185T>G	TOPMed,gnomAD
IGF2R	P11717	p.Thr52Ala	rs1169649545	missense variant	-	NC_000006.12:g.159991188A>G	gnomAD
IGF2R	P11717	p.Glu54Lys	rs752122186	missense variant	-	NC_000006.12:g.159991194G>A	ExAC
IGF2R	P11717	p.Val56Ile	rs762160992	missense variant	-	NC_000006.12:g.159991200G>A	ExAC,gnomAD
IGF2R	P11717	p.Asp57Gly	rs1364769977	missense variant	-	NC_000006.12:g.159991204A>G	gnomAD
IGF2R	P11717	p.Thr58Ala	rs1404500006	missense variant	-	NC_000006.12:g.159991206A>G	gnomAD
IGF2R	P11717	p.Asn61Asp	rs1299048682	missense variant	-	NC_000006.12:g.159991215A>G	gnomAD
IGF2R	P11717	p.Val62Ile	rs143081256	missense variant	-	NC_000006.12:g.159991218G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn67Ser	rs750730242	missense variant	-	NC_000006.12:g.159991234A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile68Phe	rs148344348	missense variant	-	NC_000006.12:g.159991236A>T	ESP,ExAC,gnomAD
IGF2R	P11717	p.Ile68Thr	rs752296293	missense variant	-	NC_000006.12:g.159991237T>C	ExAC,gnomAD
IGF2R	P11717	p.Ile68Val	rs148344348	missense variant	-	NC_000006.12:g.159991236A>G	ESP,ExAC,gnomAD
IGF2R	P11717	p.Cys69Phe	rs1247660547	missense variant	-	NC_000006.12:g.159991240G>T	gnomAD
IGF2R	P11717	p.Gly70Glu	rs757915126	missense variant	-	NC_000006.12:g.159991243G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly70Ala	rs757915126	missense variant	-	NC_000006.12:g.159991243G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser71Thr	rs747031754	missense variant	-	NC_000006.12:g.159991246G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp73Gly	rs757132015	missense variant	-	NC_000006.12:g.159991252A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile74Thr	rs745629855	missense variant	-	NC_000006.12:g.159991255T>C	ExAC,gnomAD
IGF2R	P11717	p.Ile74Val	rs781093873	missense variant	-	NC_000006.12:g.159991254A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val75Phe	rs769674629	missense variant	-	NC_000006.12:g.159991257G>T	ExAC,gnomAD
IGF2R	P11717	p.Gln76His	rs372323465	missense variant	-	NC_000006.12:g.159991262G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln76Arg	rs749466130	missense variant	-	NC_000006.12:g.159991261A>G	ExAC,gnomAD
IGF2R	P11717	p.Gly78Arg	rs762430159	missense variant	-	NC_000006.12:g.159991266G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly78Arg	rs762430159	missense variant	-	NC_000006.12:g.159991266G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro79Ser	COSM1210363	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.159991269C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Ser81Gly	rs1288319051	missense variant	-	NC_000006.12:g.159991275A>G	gnomAD
IGF2R	P11717	p.Val83Ile	rs147110717	missense variant	-	NC_000006.12:g.159991281G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys84Arg	rs1313626152	missense variant	-	NC_000006.12:g.159991284T>C	gnomAD
IGF2R	P11717	p.Met85SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.159991286_159991287insTC	NCI-TCGA
IGF2R	P11717	p.Met85Thr	rs766668837	missense variant	-	NC_000006.12:g.159991288T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His86Arg	rs1241377831	missense variant	-	NC_000006.12:g.159991291A>G	TOPMed,gnomAD
IGF2R	P11717	p.His86Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.159991290C>T	NCI-TCGA
IGF2R	P11717	p.Asp87Asn	rs758037852	missense variant	-	NC_000006.12:g.159991293G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp87Asn	rs758037852	missense variant	-	NC_000006.12:g.159991293G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Leu88Trp	rs763714994	missense variant	-	NC_000006.12:g.159991297T>G	ExAC,gnomAD
IGF2R	P11717	p.Lys89Asn	rs1483956994	missense variant	-	NC_000006.12:g.159991301G>C	gnomAD
IGF2R	P11717	p.Arg91Pro	rs8191704	missense variant	-	NC_000006.12:g.159991306G>C	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg91Cys	rs199950272	missense variant	-	NC_000006.12:g.159991305C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg91Gly	COSM741325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.159991305C>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Arg91His	rs8191704	missense variant	-	NC_000006.12:g.159991306G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Arg91His	rs8191704	missense variant	-	NC_000006.12:g.159991306G>A	UniProt,dbSNP
IGF2R	P11717	p.Arg91His	VAR_021304	missense variant	-	NC_000006.12:g.159991306G>A	UniProt
IGF2R	P11717	p.Arg91His	rs8191704	missense variant	-	NC_000006.12:g.159991306G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg91Leu	rs8191704	missense variant	-	NC_000006.12:g.159991306G>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr92Ala	rs143824089	missense variant	-	NC_000006.12:g.159991308A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr92Ser	rs143824089	missense variant	-	NC_000006.12:g.159991308A>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr93His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.159991311T>C	NCI-TCGA
IGF2R	P11717	p.His94Leu	rs768749227	missense variant	-	NC_000006.12:g.159991315A>T	ExAC,gnomAD
IGF2R	P11717	p.Ser95Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.159991318C>T	NCI-TCGA
IGF2R	P11717	p.Val96Leu	rs1222332607	missense variant	-	NC_000006.12:g.159991320G>T	TOPMed
IGF2R	P11717	p.Val96Met	rs1222332607	missense variant	-	NC_000006.12:g.159991320G>A	TOPMed
IGF2R	P11717	p.Ser99Cys	rs756743378	missense variant	-	NC_000006.12:g.160009016C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser99Thr	rs766506221	missense variant	-	NC_000006.12:g.160009015T>A	ExAC,gnomAD
IGF2R	P11717	p.Leu101Phe	rs1452078727	missense variant	-	NC_000006.12:g.160009023G>C	TOPMed
IGF2R	P11717	p.Arg102Ser	rs1194028786	missense variant	-	NC_000006.12:g.160009026A>T	TOPMed
IGF2R	P11717	p.Ala104Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160009031C>A	NCI-TCGA
IGF2R	P11717	p.Thr105Ile	rs750393094	missense variant	-	NC_000006.12:g.160009034C>T	ExAC,gnomAD
IGF2R	P11717	p.Thr105Ala	rs1337453909	missense variant	-	NC_000006.12:g.160009033A>G	TOPMed
IGF2R	P11717	p.Ser107Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160009040C>A	NCI-TCGA
IGF2R	P11717	p.Ser107Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160009039T>A	NCI-TCGA
IGF2R	P11717	p.Ser107Phe	rs780053781	missense variant	-	NC_000006.12:g.160009040C>T	ExAC,gnomAD
IGF2R	P11717	p.Leu109Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160009045C>A	NCI-TCGA
IGF2R	P11717	p.Phe111Tyr	rs753654411	missense variant	-	NC_000006.12:g.160009052T>A	ExAC,gnomAD
IGF2R	P11717	p.Asn112Ser	rs368203999	missense variant	-	NC_000006.12:g.160009055A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr113Ala	rs748343480	missense variant	-	NC_000006.12:g.160009057A>G	ExAC,gnomAD
IGF2R	P11717	p.Thr114Ala	rs772046456	missense variant	-	NC_000006.12:g.160009060A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser116Arg	rs747569344	missense variant	-	NC_000006.12:g.160009068C>A	ExAC,gnomAD
IGF2R	P11717	p.Cys117Ser	COSM6173008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160009070G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Thr122Ala	rs372480074	missense variant	-	NC_000006.12:g.160009084A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn123Ser	rs777024868	missense variant	-	NC_000006.12:g.160009088A>G	ExAC,gnomAD
IGF2R	P11717	p.His124Arg	rs759853967	missense variant	-	NC_000006.12:g.160009091A>G	ExAC,gnomAD
IGF2R	P11717	p.Arg125Gly	rs770149987	missense variant	-	NC_000006.12:g.160009093A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val126Ile	rs1490891090	missense variant	-	NC_000006.12:g.160009096G>A	gnomAD
IGF2R	P11717	p.Gln127Arg	rs1197543312	missense variant	-	NC_000006.12:g.160009100A>G	gnomAD
IGF2R	P11717	p.Ser129Cys	rs1328708338	missense variant	-	NC_000006.12:g.160009105A>T	TOPMed
IGF2R	P11717	p.Ser129Asn	rs1408719689	missense variant	-	NC_000006.12:g.160009106G>A	TOPMed
IGF2R	P11717	p.Ile130Val	rs1478224718	missense variant	-	NC_000006.12:g.160009108A>G	gnomAD
IGF2R	P11717	p.Ala131Thr	rs761463472	missense variant	-	NC_000006.12:g.160009111G>A	ExAC,gnomAD
IGF2R	P11717	p.Leu133Val	rs749941647	missense variant	-	NC_000006.12:g.160009117C>G	ExAC,gnomAD
IGF2R	P11717	p.Cys134Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160009120T>C	NCI-TCGA
IGF2R	P11717	p.Thr137Ala	rs760744760	missense variant	-	NC_000006.12:g.160009129A>G	ExAC,TOPMed
IGF2R	P11717	p.Thr137ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160009123G>-	NCI-TCGA
IGF2R	P11717	p.Thr137Asn	rs766448582	missense variant	-	NC_000006.12:g.160009130C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly139Val	rs759510003	missense variant	-	NC_000006.12:g.160010688G>T	ExAC,gnomAD
IGF2R	P11717	p.Thr140Ile	rs764995243	missense variant	-	NC_000006.12:g.160010691C>T	ExAC,gnomAD
IGF2R	P11717	p.Pro141Ser	COSM3921017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160010693C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Pro141Thr	COSM1311785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160010693C>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Phe143Tyr	rs1207120044	missense variant	-	NC_000006.12:g.160010700T>A	gnomAD
IGF2R	P11717	p.Val144Ile	rs1361261652	missense variant	-	NC_000006.12:g.160010702G>A	TOPMed
IGF2R	P11717	p.Thr145Ile	rs1174811277	missense variant	-	NC_000006.12:g.160010706C>T	TOPMed
IGF2R	P11717	p.Ala146Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160010708G>A	NCI-TCGA
IGF2R	P11717	p.Thr147Ala	rs1446554846	missense variant	-	NC_000006.12:g.160010711A>G	TOPMed,gnomAD
IGF2R	P11717	p.Cys149Arg	rs1245551715	missense variant	-	NC_000006.12:g.160010717T>C	gnomAD
IGF2R	P11717	p.Cys149Tyr	rs751733844	missense variant	-	NC_000006.12:g.160010718G>A	ExAC,gnomAD
IGF2R	P11717	p.Val150Met	rs781184877	missense variant	-	NC_000006.12:g.160010720G>A	ExAC,gnomAD
IGF2R	P11717	p.His151Tyr	rs756631085	missense variant	-	NC_000006.12:g.160010723C>T	ExAC,gnomAD
IGF2R	P11717	p.Phe153Cys	rs780333000	missense variant	-	NC_000006.12:g.160010730T>G	ExAC,gnomAD
IGF2R	P11717	p.Thr157Ile	rs749635350	missense variant	-	NC_000006.12:g.160010742C>T	ExAC,gnomAD
IGF2R	P11717	p.Thr158Asn	rs138722146	missense variant	-	NC_000006.12:g.160010745C>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr158Ala	rs1254992973	missense variant	-	NC_000006.12:g.160010744A>G	TOPMed
IGF2R	P11717	p.Ala159Glu	rs746593397	missense variant	-	NC_000006.12:g.160010748C>A	ExAC,gnomAD
IGF2R	P11717	p.Ala159Val	rs746593397	missense variant	-	NC_000006.12:g.160010748C>T	ExAC,gnomAD
IGF2R	P11717	p.Ala159Thr	rs573817058	missense variant	-	NC_000006.12:g.160010747G>A	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Asp164Tyr	rs770631088	missense variant	-	NC_000006.12:g.160010762G>T	ExAC,gnomAD
IGF2R	P11717	p.Ile165Thr	rs759436909	missense variant	-	NC_000006.12:g.160010766T>C	ExAC,gnomAD
IGF2R	P11717	p.Ile165Val	rs776187670	missense variant	-	NC_000006.12:g.160010765A>G	ExAC
IGF2R	P11717	p.Ala168Thr	rs765187784	missense variant	-	NC_000006.12:g.160010774G>A	ExAC,gnomAD
IGF2R	P11717	p.Lys170Gln	COSM1441946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160010780A>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Val172Met	rs1285676827	missense variant	-	NC_000006.12:g.160024572G>A	TOPMed
IGF2R	P11717	p.Tyr175Cys	rs534827609	missense variant	-	NC_000006.12:g.160024582A>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr175Ser	rs534827609	missense variant	-	NC_000006.12:g.160024582A>C	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr175Asn	rs1339710401	missense variant	-	NC_000006.12:g.160024581T>A	TOPMed
IGF2R	P11717	p.Val176Met	rs745454767	missense variant	-	NC_000006.12:g.160024584G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp178Gly	rs769355834	missense variant	-	NC_000006.12:g.160024591A>G	ExAC,gnomAD
IGF2R	P11717	p.Glu179Lys	rs779428929	missense variant	-	NC_000006.12:g.160024593G>A	ExAC,gnomAD
IGF2R	P11717	p.Glu180Gln	rs749281578	missense variant	-	NC_000006.12:g.160024596G>C	ExAC,gnomAD
IGF2R	P11717	p.Glu180Gly	rs149369030	missense variant	-	NC_000006.12:g.160024597A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg182Lys	rs1405051656	missense variant	-	NC_000006.12:g.160024603G>A	TOPMed
IGF2R	P11717	p.Lys183Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160024605A>C	NCI-TCGA
IGF2R	P11717	p.His184Arg	rs1263259051	missense variant	-	NC_000006.12:g.160024609A>G	gnomAD
IGF2R	P11717	p.Asn187Ser	rs376405090	missense variant	-	NC_000006.12:g.160024618A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn187Asp	rs761628691	missense variant	-	NC_000006.12:g.160024617A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile190Met	rs1165674251	missense variant	-	NC_000006.12:g.160024628C>G	TOPMed,gnomAD
IGF2R	P11717	p.Ile190Thr	rs773009517	missense variant	-	NC_000006.12:g.160024627T>C	TOPMed,gnomAD
IGF2R	P11717	p.Lys191Glu	rs773485154	missense variant	-	NC_000006.12:g.160024629A>G	ExAC,gnomAD
IGF2R	P11717	p.Ala195Gly	rs766537029	missense variant	-	NC_000006.12:g.160024642C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr196His	COSM3994711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160024644T>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Asp199Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160024655T>G	NCI-TCGA
IGF2R	P11717	p.Asp199Gly	rs148660289	missense variant	-	NC_000006.12:g.160024654A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp200Val	rs537176017	missense variant	-	NC_000006.12:g.160024657A>T	1000Genomes
IGF2R	P11717	p.Ser201Phe	COSM3622473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160024660C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Asp202His	rs758806961	missense variant	-	NC_000006.12:g.160024662G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp202Gly	rs953381775	missense variant	-	NC_000006.12:g.160024663A>G	TOPMed
IGF2R	P11717	p.Asp202Asn	rs758806961	missense variant	-	NC_000006.12:g.160024662G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro203Ser	rs750160785	missense variant	-	NC_000006.12:g.160024665C>T	ExAC,gnomAD
IGF2R	P11717	p.Pro203Leu	rs8191746	missense variant	-	NC_000006.12:g.160024666C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp204Val	rs1484640940	missense variant	-	NC_000006.12:g.160024669A>T	gnomAD
IGF2R	P11717	p.Thr205Ile	rs778846648	missense variant	-	NC_000006.12:g.160024672C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr205Ala	rs768116269	missense variant	-	NC_000006.12:g.160024671A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu207Val	rs771967379	missense variant	-	NC_000006.12:g.160024677C>G	ExAC,gnomAD
IGF2R	P11717	p.Ile209Val	rs772869020	missense variant	-	NC_000006.12:g.160024683A>G	ExAC,gnomAD
IGF2R	P11717	p.Asn210Ile	COSM3860120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160024687A>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Asn210Ser	rs761005920	missense variant	-	NC_000006.12:g.160024687A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn210Asp	rs1160130644	missense variant	-	NC_000006.12:g.160024686A>G	gnomAD
IGF2R	P11717	p.Thr217Arg	rs777659419	missense variant	-	NC_000006.12:g.160027188C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr217Ile	rs777659419	missense variant	-	NC_000006.12:g.160027188C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu218Pro	rs1211217775	missense variant	-	NC_000006.12:g.160027191T>C	TOPMed
IGF2R	P11717	p.Arg219Ter	rs770798433	stop gained	-	NC_000006.12:g.160027193C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg219Gly	rs770798433	missense variant	-	NC_000006.12:g.160027193C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg219Gln	rs777003793	missense variant	-	NC_000006.12:g.160027194G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser223Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160027206C>G	NCI-TCGA
IGF2R	P11717	p.Leu225Pro	rs994035822	missense variant	-	NC_000006.12:g.160027212T>C	gnomAD
IGF2R	P11717	p.Arg226Trp	rs746024088	missense variant	-	NC_000006.12:g.160027214C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg226Gln	rs572853661	missense variant	-	NC_000006.12:g.160027215G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala227Thr	rs1206290347	missense variant	-	NC_000006.12:g.160027217G>A	TOPMed,gnomAD
IGF2R	P11717	p.Ala227Pro	rs1206290347	missense variant	-	NC_000006.12:g.160027217G>C	TOPMed,gnomAD
IGF2R	P11717	p.Pro229His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160027224C>A	NCI-TCGA
IGF2R	P11717	p.Pro229Arg	rs763568046	missense variant	-	NC_000006.12:g.160027224C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro229Leu	rs763568046	missense variant	-	NC_000006.12:g.160027224C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro229Ser	rs373677502	missense variant	-	NC_000006.12:g.160027223C>T	ESP,ExAC,gnomAD
IGF2R	P11717	p.Pro230Leu	rs367819391	missense variant	-	NC_000006.12:g.160027227C>T	ESP,ExAC,gnomAD
IGF2R	P11717	p.Gly231Asp	rs8191753	missense variant	-	NC_000006.12:g.160027230G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly231AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160027223C>-	NCI-TCGA
IGF2R	P11717	p.Gly231Ser	rs139454864	missense variant	-	NC_000006.12:g.160027229G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr232Ala	rs76235629	missense variant	-	NC_000006.12:g.160027232A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala234Thr	rs752117342	missense variant	-	NC_000006.12:g.160027238G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys235Tyr	rs1346850204	missense variant	-	NC_000006.12:g.160027242G>A	gnomAD
IGF2R	P11717	p.Leu236Val	rs777591060	missense variant	-	NC_000006.12:g.160027244C>G	ExAC,gnomAD
IGF2R	P11717	p.Val237Leu	rs746902927	missense variant	-	NC_000006.12:g.160027247G>C	ExAC,gnomAD
IGF2R	P11717	p.Gly239Arg	rs997220455	missense variant	-	NC_000006.12:g.160027253G>A	TOPMed
IGF2R	P11717	p.Gly239Glu	rs139474833	missense variant	-	NC_000006.12:g.160027254G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His240Tyr	rs1210998794	missense variant	-	NC_000006.12:g.160027256C>T	TOPMed
IGF2R	P11717	p.His240Arg	rs1330379787	missense variant	-	NC_000006.12:g.160027257A>G	TOPMed
IGF2R	P11717	p.Gln241Lys	rs781133341	missense variant	-	NC_000006.12:g.160027259C>A	ExAC,gnomAD
IGF2R	P11717	p.Ala242Val	rs200856656	missense variant	-	NC_000006.12:g.160027263C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala242Thr	rs1270549691	missense variant	-	NC_000006.12:g.160027262G>A	TOPMed,gnomAD
IGF2R	P11717	p.Phe243Cys	rs1292829552	missense variant	-	NC_000006.12:g.160027266T>G	gnomAD
IGF2R	P11717	p.Asp244Gly	rs775680443	missense variant	-	NC_000006.12:g.160027269A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp244Val	rs775680443	missense variant	-	NC_000006.12:g.160027269A>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val245Leu	rs149684248	missense variant	-	NC_000006.12:g.160027271G>C	ESP,ExAC,gnomAD
IGF2R	P11717	p.Val245Ile	rs149684248	missense variant	-	NC_000006.12:g.160027271G>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Gly246Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160027275G>C	NCI-TCGA
IGF2R	P11717	p.Gln247Arg	rs768734491	missense variant	-	NC_000006.12:g.160027278A>G	ExAC,gnomAD
IGF2R	P11717	p.Pro248Ala	rs1476003235	missense variant	-	NC_000006.12:g.160027280C>G	TOPMed,gnomAD
IGF2R	P11717	p.Pro248Ser	rs1476003235	missense variant	-	NC_000006.12:g.160027280C>T	TOPMed,gnomAD
IGF2R	P11717	p.Pro248Leu	rs774736150	missense variant	-	NC_000006.12:g.160027281C>T	ExAC,gnomAD
IGF2R	P11717	p.Arg249Trp	rs150809922	missense variant	-	NC_000006.12:g.160027283C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg249Gly	rs150809922	missense variant	-	NC_000006.12:g.160027283C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg249Gln	rs772482202	missense variant	-	NC_000006.12:g.160027284G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly251Glu	rs560401254	missense variant	-	NC_000006.12:g.160027290G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly251Arg	rs759226802	missense variant	-	NC_000006.12:g.160027289G>A	ExAC,gnomAD
IGF2R	P11717	p.Leu252Val	rs8191754	missense variant	-	NC_000006.12:g.160027292C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val255Glu	rs147721318	missense variant	-	NC_000006.12:g.160027302T>A	ESP,TOPMed,gnomAD
IGF2R	P11717	p.Val255Met	rs1326531060	missense variant	-	NC_000006.12:g.160027301G>A	gnomAD
IGF2R	P11717	p.Arg256Gly	rs142589883	missense variant	-	NC_000006.12:g.160027304C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg256Cys	rs142589883	missense variant	-	NC_000006.12:g.160027304C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg256His	rs371916370	missense variant	-	NC_000006.12:g.160027305G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg256Leu	rs371916370	missense variant	-	NC_000006.12:g.160027305G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg256Pro	rs371916370	missense variant	-	NC_000006.12:g.160027305G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys257Arg	rs1364189379	missense variant	-	NC_000006.12:g.160027308A>G	gnomAD
IGF2R	P11717	p.Asp258Gly	rs750215733	missense variant	-	NC_000006.12:g.160027311A>G	ExAC,gnomAD
IGF2R	P11717	p.Tyr264Asn	rs368673236	missense variant	-	NC_000006.12:g.160029563T>A	ESP,ExAC,TOPMed
IGF2R	P11717	p.Val265Met	rs199715599	missense variant	-	NC_000006.12:g.160029566G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg266Ser	rs761885816	missense variant	-	NC_000006.12:g.160029571G>T	ExAC,gnomAD
IGF2R	P11717	p.Glu267Val	rs767594886	missense variant	-	NC_000006.12:g.160029573A>T	ExAC,gnomAD
IGF2R	P11717	p.Ala269Ser	rs752895477	missense variant	-	NC_000006.12:g.160029578G>T	ExAC,gnomAD
IGF2R	P11717	p.Lys271Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160029586G>T	NCI-TCGA
IGF2R	P11717	p.Asp273Gly	rs8191758	missense variant	-	NC_000006.12:g.160029591A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys275Gly	rs754064175	missense variant	-	NC_000006.12:g.160029596T>G	ExAC,gnomAD
IGF2R	P11717	p.Gly277Asp	rs148289420	missense variant	-	NC_000006.12:g.160029603G>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Ser279Asn	rs1235588066	missense variant	-	NC_000006.12:g.160029609G>A	gnomAD
IGF2R	P11717	p.Ser279Gly	rs141432723	missense variant	-	NC_000006.12:g.160029608A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala281Val	rs919932123	missense variant	-	NC_000006.12:g.160029615C>T	TOPMed,gnomAD
IGF2R	P11717	p.Thr283Ala	rs1199831106	missense variant	-	NC_000006.12:g.160029620A>G	gnomAD
IGF2R	P11717	p.Thr283Asn	rs771263817	missense variant	-	NC_000006.12:g.160029621C>A	ExAC,gnomAD
IGF2R	P11717	p.Ile284Val	rs1444680491	missense variant	-	NC_000006.12:g.160029623A>G	gnomAD
IGF2R	P11717	p.Thr285Ala	rs1301671137	missense variant	-	NC_000006.12:g.160029626A>G	TOPMed
IGF2R	P11717	p.Phe286Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160029630T>C	NCI-TCGA
IGF2R	P11717	p.Cys288Ser	rs1328642629	missense variant	-	NC_000006.12:g.160029635T>A	gnomAD
IGF2R	P11717	p.Pro289Arg	rs373279911	missense variant	-	NC_000006.12:g.160029639C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro289Leu	rs373279911	missense variant	-	NC_000006.12:g.160029639C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro289Ser	rs1224630268	missense variant	-	NC_000006.12:g.160029638C>T	gnomAD
IGF2R	P11717	p.Ser290Leu	rs377184247	missense variant	-	NC_000006.12:g.160029642C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg292Gln	rs370150079	missense variant	-	NC_000006.12:g.160029648G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg292Gly	rs200510844	missense variant	-	NC_000006.12:g.160029647C>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg292Trp	rs200510844	missense variant	-	NC_000006.12:g.160029647C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu294Gly	rs1182243840	missense variant	-	NC_000006.12:g.160029654A>G	TOPMed
IGF2R	P11717	p.Gly295Asp	rs1447597837	missense variant	-	NC_000006.12:g.160032552G>A	gnomAD
IGF2R	P11717	p.Thr296Ile	COSM3697647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160032555C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Ile297Val	rs756508654	missense variant	-	NC_000006.12:g.160032557A>G	ExAC,gnomAD
IGF2R	P11717	p.Pro298Ser	rs1018194928	missense variant	-	NC_000006.12:g.160032560C>T	TOPMed,gnomAD
IGF2R	P11717	p.Lys299Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160032564A>C	NCI-TCGA
IGF2R	P11717	p.Leu300Phe	rs1397519098	missense variant	-	NC_000006.12:g.160032566C>T	TOPMed
IGF2R	P11717	p.Thr301Arg	rs1445412501	missense variant	-	NC_000006.12:g.160032570C>G	gnomAD
IGF2R	P11717	p.Ala302Gly	rs747870299	missense variant	-	NC_000006.12:g.160032573C>G	ExAC,gnomAD
IGF2R	P11717	p.Ser304Tyr	rs1289950230	missense variant	-	NC_000006.12:g.160032579C>A	gnomAD
IGF2R	P11717	p.Asn305Thr	rs74483248	missense variant	-	NC_000006.12:g.160032582A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn305Ser	rs74483248	missense variant	-	NC_000006.12:g.160032582A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg307Cys	rs746547178	missense variant	-	NC_000006.12:g.160032587C>T	ExAC,TOPMed
IGF2R	P11717	p.Arg307His	rs770284613	missense variant	-	NC_000006.12:g.160032588G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg307His	rs770284613	missense variant	-	NC_000006.12:g.160032588G>A	NCI-TCGA
IGF2R	P11717	p.Tyr308Cys	rs1320254673	missense variant	-	NC_000006.12:g.160032591A>G	gnomAD
IGF2R	P11717	p.Ile310Thr	rs1425873897	missense variant	-	NC_000006.12:g.160032597T>C	TOPMed
IGF2R	P11717	p.Thr314Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160032608A>G	NCI-TCGA
IGF2R	P11717	p.Tyr316Cys	rs759386027	missense variant	-	NC_000006.12:g.160032615A>G	ExAC,gnomAD
IGF2R	P11717	p.Ala317Pro	rs775242012	missense variant	-	NC_000006.12:g.160032617G>C	ExAC,gnomAD
IGF2R	P11717	p.Ala317Ser	rs775242012	missense variant	-	NC_000006.12:g.160032617G>T	ExAC,gnomAD
IGF2R	P11717	p.Cys318Ser	COSM741323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160032621G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.His319Gln	rs764333228	missense variant	-	NC_000006.12:g.160032625C>G	ExAC,gnomAD
IGF2R	P11717	p.His319Gln	rs764333228	missense variant	-	NC_000006.12:g.160032625C>G	NCI-TCGA
IGF2R	P11717	p.Asp321Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160032630A>C	NCI-TCGA
IGF2R	P11717	p.Leu323Pro	rs751683771	missense variant	-	NC_000006.12:g.160032636T>C	ExAC,gnomAD
IGF2R	P11717	p.Gly332Asp	rs1255755364	missense variant	-	NC_000006.12:g.160032663G>A	TOPMed
IGF2R	P11717	p.Gly332Ser	rs201643806	missense variant	-	NC_000006.12:g.160032662G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu333Lys	rs146231442	missense variant	-	NC_000006.12:g.160032665G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu333Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160032667G>T	NCI-TCGA
IGF2R	P11717	p.Glu333Gly	rs200914162	missense variant	-	NC_000006.12:g.160032666A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln334Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160032668C>T	NCI-TCGA
IGF2R	P11717	p.Gln335Arg	rs1159833176	missense variant	-	NC_000006.12:g.160032672A>G	gnomAD
IGF2R	P11717	p.Asp336His	rs1373956831	missense variant	-	NC_000006.12:g.160032674G>C	TOPMed
IGF2R	P11717	p.Asp336Val	rs139309515	missense variant	-	NC_000006.12:g.160032675A>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val337Ile	rs1456095686	missense variant	-	NC_000006.12:g.160032677G>A	gnomAD
IGF2R	P11717	p.Ser338Phe	rs1159130292	missense variant	-	NC_000006.12:g.160032681C>T	gnomAD
IGF2R	P11717	p.Ser338Phe	rs1159130292	missense variant	-	NC_000006.12:g.160032681C>T	NCI-TCGA
IGF2R	P11717	p.Ile339Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160032683A>C	NCI-TCGA
IGF2R	P11717	p.Ile339Val	rs369933452	missense variant	-	NC_000006.12:g.160032683A>G	NCI-TCGA
IGF2R	P11717	p.Ile339Val	rs369933452	missense variant	-	NC_000006.12:g.160032683A>G	TOPMed
IGF2R	P11717	p.Asp340Asn	rs1407298119	missense variant	-	NC_000006.12:g.160032686G>A	gnomAD
IGF2R	P11717	p.Leu341Ile	COSM1075581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160032689C>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Thr342Ala	rs777491491	missense variant	-	NC_000006.12:g.160032692A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro343Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160032695C>T	NCI-TCGA
IGF2R	P11717	p.Ala345Pro	rs1377906141	missense variant	-	NC_000006.12:g.160032701G>C	gnomAD
IGF2R	P11717	p.Gly348Arg	rs770540501	missense variant	-	NC_000006.12:g.160032710G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly349Asp	rs142637746	missense variant	-	NC_000006.12:g.160032942G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly349Val	rs142637746	missense variant	-	NC_000006.12:g.160032942G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser350Leu	rs1277110301	missense variant	-	NC_000006.12:g.160032945C>T	TOPMed,gnomAD
IGF2R	P11717	p.Ser350Pro	rs1205485509	missense variant	-	NC_000006.12:g.160032944T>C	gnomAD
IGF2R	P11717	p.Tyr352Cys	rs751282169	missense variant	-	NC_000006.12:g.160032951A>G	NCI-TCGA
IGF2R	P11717	p.Tyr352Cys	rs751282169	missense variant	-	NC_000006.12:g.160032951A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile353Leu	rs756835735	missense variant	-	NC_000006.12:g.160032953A>C	ExAC,gnomAD
IGF2R	P11717	p.Ser354Thr	rs780793160	missense variant	-	NC_000006.12:g.160032956T>A	ExAC,gnomAD
IGF2R	P11717	p.Asp355Asn	rs148608443	missense variant	-	NC_000006.12:g.160032959G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp355Gly	rs142077419	missense variant	-	NC_000006.12:g.160032960A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys357Thr	rs749156946	missense variant	-	NC_000006.12:g.160032966A>C	ExAC,gnomAD
IGF2R	P11717	p.Glu358Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160032968G>T	NCI-TCGA
IGF2R	P11717	p.Glu358Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160032968G>A	NCI-TCGA
IGF2R	P11717	p.Leu360Trp	rs1428707189	missense variant	-	NC_000006.12:g.160032975T>G	gnomAD
IGF2R	P11717	p.Val365Ile	rs376646523	missense variant	-	NC_000006.12:g.160032989G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys366Tyr	rs1291906404	missense variant	-	NC_000006.12:g.160032993G>A	TOPMed
IGF2R	P11717	p.Gly367Ter	COSM4919338	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160032995G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Glu368Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160032998G>T	NCI-TCGA
IGF2R	P11717	p.Glu368Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160032998G>A	NCI-TCGA
IGF2R	P11717	p.Ile371Thr	rs1274257871	missense variant	-	NC_000006.12:g.160033008T>C	gnomAD
IGF2R	P11717	p.Ile371Leu	rs981641288	missense variant	-	NC_000006.12:g.160033007A>C	TOPMed,gnomAD
IGF2R	P11717	p.Ile371Val	rs981641288	missense variant	-	NC_000006.12:g.160033007A>G	TOPMed,gnomAD
IGF2R	P11717	p.Phe373Leu	rs1230273065	missense variant	-	NC_000006.12:g.160033015C>G	gnomAD
IGF2R	P11717	p.Phe373Leu	rs1362388026	missense variant	-	NC_000006.12:g.160033013T>C	gnomAD
IGF2R	P11717	p.Asn375Ser	rs748453994	missense variant	-	NC_000006.12:g.160033020A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys376Thr	rs772212062	missense variant	-	NC_000006.12:g.160033023A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala380Ser	COSM1329228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160033034G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Val384Met	COSM267947	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160033046G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Lys386Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160033052A>T	NCI-TCGA
IGF2R	P11717	p.Ser387Thr	rs1246696171	missense variant	-	NC_000006.12:g.160033056G>C	gnomAD
IGF2R	P11717	p.Ser387Asn	rs1246696171	missense variant	-	NC_000006.12:g.160033056G>A	gnomAD
IGF2R	P11717	p.Asp388Asn	rs766496292	missense variant	-	NC_000006.12:g.160033058G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln391Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160033067C>G	NCI-TCGA
IGF2R	P11717	p.Gln391Arg	rs369844091	missense variant	-	NC_000006.12:g.160033068A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val392Gly	rs1468541307	missense variant	-	NC_000006.12:g.160033071T>G	TOPMed
IGF2R	P11717	p.Tyr398Phe	rs200137298	missense variant	-	NC_000006.12:g.160033089A>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.His399Arg	rs758751597	missense variant	-	NC_000006.12:g.160033092A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn400Ser	rs560576091	missense variant	-	NC_000006.12:g.160033095A>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn400His	rs546763515	missense variant	-	NC_000006.12:g.160033094A>C	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Leu403ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160033104T>-	NCI-TCGA
IGF2R	P11717	p.Leu403Val	rs139515354	missense variant	-	NC_000006.12:g.160033103C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu403Phe	rs139515354	missense variant	-	NC_000006.12:g.160033103C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg404Gln	rs201726467	missense variant	-	NC_000006.12:g.160033107G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg404Leu	rs201726467	missense variant	-	NC_000006.12:g.160033107G>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg404Ter	rs963372359	stop gained	-	NC_000006.12:g.160033106C>T	TOPMed,gnomAD
IGF2R	P11717	p.Ser406Leu	rs753316949	missense variant	-	NC_000006.12:g.160034424C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp407Asn	rs1473324173	missense variant	-	NC_000006.12:g.160034426G>A	gnomAD
IGF2R	P11717	p.Asp409Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160034432G>T	NCI-TCGA
IGF2R	P11717	p.Leu410Phe	rs1179906959	missense variant	-	NC_000006.12:g.160034435C>T	gnomAD
IGF2R	P11717	p.Leu410His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160034436T>A	NCI-TCGA
IGF2R	P11717	p.Thr411Ala	rs1234424491	missense variant	-	NC_000006.12:g.160034438A>G	TOPMed
IGF2R	P11717	p.Thr411Asn	rs1361948037	missense variant	-	NC_000006.12:g.160034439C>A	TOPMed
IGF2R	P11717	p.Ile413Met	rs778726806	missense variant	-	NC_000006.12:g.160034446A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr414His	rs1174067825	missense variant	-	NC_000006.12:g.160034447T>C	gnomAD
IGF2R	P11717	p.Asp418Asn	rs1399820096	missense variant	-	NC_000006.12:g.160034459G>A	gnomAD
IGF2R	P11717	p.Ser421Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160034468A>C	NCI-TCGA
IGF2R	P11717	p.Ser421Asn	rs752608695	missense variant	-	NC_000006.12:g.160034469G>A	ExAC,gnomAD
IGF2R	P11717	p.Arg426Trp	rs1333800436	missense variant	-	NC_000006.12:g.160034483C>T	gnomAD
IGF2R	P11717	p.Arg426Gln	rs187620360	missense variant	-	NC_000006.12:g.160034484G>A	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Met427Ile	rs147711556	missense variant	-	NC_000006.12:g.160034488G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser428Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160034489A>G	NCI-TCGA
IGF2R	P11717	p.Val429Leu	rs375890841	missense variant	-	NC_000006.12:g.160034492G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val429Ile	rs375890841	missense variant	-	NC_000006.12:g.160034492G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe432Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160034502T>G	NCI-TCGA
IGF2R	P11717	p.Phe432Leu	rs1234633883	missense variant	-	NC_000006.12:g.160034503T>G	gnomAD
IGF2R	P11717	p.Asn435Lys	rs771246023	missense variant	-	NC_000006.12:g.160034512T>G	ExAC
IGF2R	P11717	p.Thr437Asn	rs781523760	missense variant	-	NC_000006.12:g.160034517C>A	ExAC,gnomAD
IGF2R	P11717	p.Ala438Ser	rs201596703	missense variant	-	NC_000006.12:g.160034519G>T	TOPMed,gnomAD
IGF2R	P11717	p.Ala438Thr	rs201596703	missense variant	-	NC_000006.12:g.160034519G>A	TOPMed,gnomAD
IGF2R	P11717	p.Gly439Asp	rs1265113981	missense variant	-	NC_000006.12:g.160040560G>A	TOPMed,gnomAD
IGF2R	P11717	p.Asp441Tyr	COSM483637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160040565G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Asp441Val	rs374199635	missense variant	-	NC_000006.12:g.160040566A>T	TOPMed
IGF2R	P11717	p.Asp441Asn	rs769831848	missense variant	-	NC_000006.12:g.160040565G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp441Asn	rs769831848	missense variant	-	NC_000006.12:g.160040565G>A	NCI-TCGA
IGF2R	P11717	p.Lys443Arg	rs1436226824	missense variant	-	NC_000006.12:g.160040572A>G	TOPMed
IGF2R	P11717	p.Gly444Ala	rs995837646	missense variant	-	NC_000006.12:g.160040575G>C	TOPMed,gnomAD
IGF2R	P11717	p.Thr445Ala	rs545847434	missense variant	-	NC_000006.12:g.160040577A>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr445Ser	rs545847434	missense variant	-	NC_000006.12:g.160040577A>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr445Ile	rs769124601	missense variant	-	NC_000006.12:g.160040578C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr445Asn	rs769124601	missense variant	-	NC_000006.12:g.160040578C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro446Leu	rs145880697	missense variant	-	NC_000006.12:g.160040581C>T	NCI-TCGA
IGF2R	P11717	p.Pro446Leu	rs145880697	missense variant	-	NC_000006.12:g.160040581C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val447Leu	rs762191176	missense variant	-	NC_000006.12:g.160040583G>T	ExAC,gnomAD
IGF2R	P11717	p.Glu451Gln	rs772354376	missense variant	-	NC_000006.12:g.160040595G>C	ExAC,gnomAD
IGF2R	P11717	p.Val452Phe	rs776209096	missense variant	-	NC_000006.12:g.160040598G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp453His	rs1171563414	missense variant	-	NC_000006.12:g.160040601G>C	TOPMed
IGF2R	P11717	p.Thr455Ala	rs1476834642	missense variant	-	NC_000006.12:g.160040607A>G	TOPMed
IGF2R	P11717	p.Tyr456Ser	rs759209667	missense variant	-	NC_000006.12:g.160040611A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe457Leu	rs775034193	missense variant	-	NC_000006.12:g.160040615C>G	ExAC,gnomAD
IGF2R	P11717	p.Phe458Ile	rs762328569	missense variant	-	NC_000006.12:g.160040616T>A	ExAC,gnomAD
IGF2R	P11717	p.Thr462Ala	rs1246271495	missense variant	-	NC_000006.12:g.160040628A>G	gnomAD
IGF2R	P11717	p.Thr462Met	rs148927830	missense variant	-	NC_000006.12:g.160040629C>T	ESP,ExAC,gnomAD
IGF2R	P11717	p.Glu463Lys	rs757124612	missense variant	-	NC_000006.12:g.160040631G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala465Thr	rs750670588	missense variant	-	NC_000006.12:g.160040637G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Ala465Thr	rs750670588	missense variant	-	NC_000006.12:g.160040637G>A	ExAC,gnomAD
IGF2R	P11717	p.Val467Phe	rs1273984859	missense variant	-	NC_000006.12:g.160040643G>T	TOPMed
IGF2R	P11717	p.Lys470Arg	rs1218932999	missense variant	-	NC_000006.12:g.160040653A>G	TOPMed
IGF2R	P11717	p.Asp472Glu	rs749418578	missense variant	-	NC_000006.12:g.160040660C>A	ExAC,gnomAD
IGF2R	P11717	p.Asp472Val	rs780042411	missense variant	-	NC_000006.12:g.160040659A>T	ExAC
IGF2R	P11717	p.Leu473Ile	rs755005034	missense variant	-	NC_000006.12:g.160040661C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu474Phe	rs202065634	missense variant	-	NC_000006.12:g.160040664C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly476Ser	rs377617959	missense variant	-	NC_000006.12:g.160040670G>A	ExAC,gnomAD
IGF2R	P11717	p.Gly476Cys	rs377617959	missense variant	-	NC_000006.12:g.160040670G>T	ExAC,gnomAD
IGF2R	P11717	p.Asp479Glu	rs201174713	missense variant	-	NC_000006.12:g.160040681C>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp479Asn	rs746398907	missense variant	-	NC_000006.12:g.160040679G>A	NCI-TCGA
IGF2R	P11717	p.Asp479Asn	rs746398907	missense variant	-	NC_000006.12:g.160040679G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly480Arg	rs561986253	missense variant	-	NC_000006.12:g.160040682G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg483Cys	rs763632350	missense variant	-	NC_000006.12:g.160040691C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg483Leu	rs774499638	missense variant	-	NC_000006.12:g.160040692G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg483Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160040692G>C	NCI-TCGA
IGF2R	P11717	p.Arg483His	rs774499638	missense variant	-	NC_000006.12:g.160040692G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr484Cys	rs761828724	missense variant	-	NC_000006.12:g.160040695A>G	ExAC,gnomAD
IGF2R	P11717	p.Ala488Val	rs373662196	missense variant	-	NC_000006.12:g.160040707C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val490Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160040712G>T	NCI-TCGA
IGF2R	P11717	p.Arg491His	rs527878072	missense variant	-	NC_000006.12:g.160040716G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg491Cys	rs766649241	missense variant	-	NC_000006.12:g.160040715C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala493Gly	rs778946837	missense variant	-	NC_000006.12:g.160040722C>G	ExAC,gnomAD
IGF2R	P11717	p.Ala493Glu	rs778946837	missense variant	-	NC_000006.12:g.160040722C>A	ExAC,gnomAD
IGF2R	P11717	p.Gln497Lys	rs1369444521	missense variant	-	NC_000006.12:g.160043156C>A	TOPMed,gnomAD
IGF2R	P11717	p.Gln497Arg	rs1217203402	missense variant	-	NC_000006.12:g.160043157A>G	gnomAD
IGF2R	P11717	p.Asn498Ser	rs371868713	missense variant	-	NC_000006.12:g.160043160A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala501Thr	rs1341611764	missense variant	-	NC_000006.12:g.160043168G>A	TOPMed
IGF2R	P11717	p.Val502GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160043172T>-	NCI-TCGA
IGF2R	P11717	p.Val502Leu	rs1347369237	missense variant	-	NC_000006.12:g.160043171G>C	gnomAD
IGF2R	P11717	p.Gly504Ser	rs747686315	missense variant	-	NC_000006.12:g.160043177G>A	ExAC,gnomAD
IGF2R	P11717	p.Thr507Met	rs375243560	missense variant	-	NC_000006.12:g.160043187C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr509Ala	rs1166039691	missense variant	-	NC_000006.12:g.160043192A>G	gnomAD
IGF2R	P11717	p.Lys511Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160043200G>T	NCI-TCGA
IGF2R	P11717	p.Lys512Gln	rs8191776	missense variant	-	NC_000006.12:g.160043201A>C	UniProt,dbSNP
IGF2R	P11717	p.Lys512Gln	VAR_021307	missense variant	-	NC_000006.12:g.160043201A>C	UniProt
IGF2R	P11717	p.Lys512Gln	rs8191776	missense variant	-	NC_000006.12:g.160043201A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys512Ter	rs8191776	stop gained	-	NC_000006.12:g.160043201A>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His513Gln	rs932953205	missense variant	-	NC_000006.12:g.160043206T>A	TOPMed,gnomAD
IGF2R	P11717	p.His513Asp	rs776376615	missense variant	-	NC_000006.12:g.160043204C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe515Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160043212C>A	NCI-TCGA
IGF2R	P11717	p.Phe515SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160043206T>-	NCI-TCGA
IGF2R	P11717	p.Ile516Phe	rs369207819	missense variant	-	NC_000006.12:g.160043213A>T	ESP,ExAC,gnomAD
IGF2R	P11717	p.Ile516Val	rs369207819	missense variant	-	NC_000006.12:g.160043213A>G	ESP,ExAC,gnomAD
IGF2R	P11717	p.Asn517Tyr	rs1332409571	missense variant	-	NC_000006.12:g.160043216A>T	gnomAD
IGF2R	P11717	p.Asn517Ile	rs1170137339	missense variant	-	NC_000006.12:g.160043217A>T	gnomAD
IGF2R	P11717	p.Asn517Ser	rs1170137339	missense variant	-	NC_000006.12:g.160043217A>G	gnomAD
IGF2R	P11717	p.Ile518Phe	rs1018895715	missense variant	-	NC_000006.12:g.160043219A>T	TOPMed,gnomAD
IGF2R	P11717	p.Ile518Val	rs1018895715	missense variant	-	NC_000006.12:g.160043219A>G	TOPMed,gnomAD
IGF2R	P11717	p.Arg521Lys	rs763098148	missense variant	-	NC_000006.12:g.160043229G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val522Ala	rs764077065	missense variant	-	NC_000006.12:g.160043232T>C	ExAC,gnomAD
IGF2R	P11717	p.Glu525LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160043239G>-	NCI-TCGA
IGF2R	P11717	p.Gly526Asp	rs1351477394	missense variant	-	NC_000006.12:g.160043244G>A	gnomAD
IGF2R	P11717	p.Gly526ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160043242_160043245AGGC>-	NCI-TCGA
IGF2R	P11717	p.Lys527Gln	rs1434245065	missense variant	-	NC_000006.12:g.160043246A>C	gnomAD
IGF2R	P11717	p.Arg529Pro	rs6413489	missense variant	-	NC_000006.12:g.160043253G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg529Leu	rs6413489	missense variant	-	NC_000006.12:g.160043253G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg529Gln	rs6413489	missense variant	-	NC_000006.12:g.160043253G>A	NCI-TCGA
IGF2R	P11717	p.Arg529Gln	rs6413489	missense variant	-	NC_000006.12:g.160043253G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu533Lys	rs778725774	missense variant	-	NC_000006.12:g.160043264G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu533Lys	rs778725774	missense variant	-	NC_000006.12:g.160043264G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Glu533Gln	rs778725774	missense variant	-	NC_000006.12:g.160043264G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp534Ala	rs747739849	missense variant	-	NC_000006.12:g.160043268A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala535Thr	rs149480671	missense variant	-	NC_000006.12:g.160043270G>A	1000Genomes,TOPMed
IGF2R	P11717	p.Ala535Val	rs376518853	missense variant	-	NC_000006.12:g.160043271C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala536Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160043274C>T	NCI-TCGA
IGF2R	P11717	p.Ala536Thr	COSM281870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160043273G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Val537Leu	rs145066110	missense variant	-	NC_000006.12:g.160043276G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys538Arg	rs1190096573	missense variant	-	NC_000006.12:g.160043279T>C	gnomAD
IGF2R	P11717	p.Ala539Thr	rs1245756536	missense variant	-	NC_000006.12:g.160043282G>A	gnomAD
IGF2R	P11717	p.Asp541Gly	rs1216568497	missense variant	-	NC_000006.12:g.160044514A>G	TOPMed
IGF2R	P11717	p.Lys542Thr	rs1477086692	missense variant	-	NC_000006.12:g.160044517A>C	gnomAD
IGF2R	P11717	p.Asn543Ser	rs137988074	missense variant	-	NC_000006.12:g.160044520A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly544Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160044523G>T	NCI-TCGA
IGF2R	P11717	p.Gly544Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160044522G>T	NCI-TCGA
IGF2R	P11717	p.Lys546Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160044528A>G	NCI-TCGA
IGF2R	P11717	p.Leu548Val	rs1473551824	missense variant	-	NC_000006.12:g.160044534C>G	gnomAD
IGF2R	P11717	p.Phe551Leu	rs781112402	missense variant	-	NC_000006.12:g.160044543T>C	ExAC,gnomAD
IGF2R	P11717	p.Ile552Val	rs745800031	missense variant	-	NC_000006.12:g.160044546A>G	ExAC,gnomAD
IGF2R	P11717	p.Ser554Phe	rs1400305881	missense variant	-	NC_000006.12:g.160044553C>T	gnomAD
IGF2R	P11717	p.Ser554Cys	rs1400305881	missense variant	-	NC_000006.12:g.160044553C>G	gnomAD
IGF2R	P11717	p.Pro555Leu	rs1274632884	missense variant	-	NC_000006.12:g.160044556C>T	TOPMed
IGF2R	P11717	p.Met556Val	rs769636416	missense variant	-	NC_000006.12:g.160044558A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Met556Leu	rs769636416	missense variant	-	NC_000006.12:g.160044558A>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Met556Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160044559T>C	NCI-TCGA
IGF2R	P11717	p.Met556Arg	rs749567352	missense variant	-	NC_000006.12:g.160044559T>G	ExAC,gnomAD
IGF2R	P11717	p.Lys557Arg	rs768792641	missense variant	-	NC_000006.12:g.160044562A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile562Val	rs775918067	missense variant	-	NC_000006.12:g.160044576A>G	TOPMed,gnomAD
IGF2R	P11717	p.Leu564Val	rs761815480	missense variant	-	NC_000006.12:g.160044582C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu564Phe	rs761815480	missense variant	-	NC_000006.12:g.160044582C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser565Phe	rs761237849	missense variant	-	NC_000006.12:g.160044586C>T	ExAC,gnomAD
IGF2R	P11717	p.Tyr566His	rs1423961979	missense variant	-	NC_000006.12:g.160044588T>C	TOPMed
IGF2R	P11717	p.Ser567Ala	COSM483638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160044591T>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Asp568Val	rs1189084939	missense variant	-	NC_000006.12:g.160044595A>T	TOPMed
IGF2R	P11717	p.Gly569Asp	rs1481332808	missense variant	-	NC_000006.12:g.160044598G>A	TOPMed
IGF2R	P11717	p.Asp571Glu	rs372656081	missense variant	-	NC_000006.12:g.160044605T>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly573Ser	rs754182952	missense variant	-	NC_000006.12:g.160044609G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His574Pro	rs1251939390	missense variant	-	NC_000006.12:g.160044613A>C	gnomAD
IGF2R	P11717	p.Gly575Arg	rs1483980943	missense variant	-	NC_000006.12:g.160044615G>C	gnomAD
IGF2R	P11717	p.Lys577Gln	rs763665662	missense variant	-	NC_000006.12:g.160044621A>C	ExAC,gnomAD
IGF2R	P11717	p.Thr580Ser	rs751155185	missense variant	-	NC_000006.12:g.160044631C>G	ExAC,gnomAD
IGF2R	P11717	p.Asn581Ser	rs756827708	missense variant	-	NC_000006.12:g.160044634A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile582Thr	rs745855300	missense variant	-	NC_000006.12:g.160044637T>C	ExAC,gnomAD
IGF2R	P11717	p.Ile582Val	rs780666882	missense variant	-	NC_000006.12:g.160044636A>G	ExAC,gnomAD
IGF2R	P11717	p.Leu584Phe	rs756014858	missense variant	-	NC_000006.12:g.160044642C>T	ExAC,gnomAD
IGF2R	P11717	p.Pro588Leu	rs1371290245	missense variant	-	NC_000006.12:g.160044655C>T	gnomAD
IGF2R	P11717	p.Asp590Val	rs1405922524	missense variant	-	NC_000006.12:g.160045748A>T	TOPMed
IGF2R	P11717	p.Asp590His	rs1417183899	missense variant	-	NC_000006.12:g.160045747G>C	TOPMed
IGF2R	P11717	p.Leu591Val	rs1178956570	missense variant	-	NC_000006.12:g.160045750C>G	TOPMed
IGF2R	P11717	p.Ser593Thr	rs1439698917	missense variant	-	NC_000006.12:g.160045757G>C	gnomAD
IGF2R	P11717	p.Ala594Thr	rs1343867966	missense variant	-	NC_000006.12:g.160045759G>A	TOPMed,gnomAD
IGF2R	P11717	p.Leu597Phe	rs1462975063	missense variant	-	NC_000006.12:g.160045770G>C	TOPMed
IGF2R	P11717	p.Arg598Lys	rs1250300025	missense variant	-	NC_000006.12:g.160045772G>A	gnomAD
IGF2R	P11717	p.Ser600Phe	rs1356901266	missense variant	-	NC_000006.12:g.160045778C>T	gnomAD
IGF2R	P11717	p.Ser600Cys	rs1356901266	missense variant	-	NC_000006.12:g.160045778C>G	gnomAD
IGF2R	P11717	p.Gly601Glu	rs1256911159	missense variant	-	NC_000006.12:g.160045781G>A	TOPMed
IGF2R	P11717	p.Glu602Gly	rs1397955446	missense variant	-	NC_000006.12:g.160045784A>G	gnomAD
IGF2R	P11717	p.Gly603Cys	rs779871119	missense variant	-	NC_000006.12:g.160045786G>T	ExAC,gnomAD
IGF2R	P11717	p.Gly604Ala	rs748416838	missense variant	-	NC_000006.12:g.160045790G>C	ExAC,gnomAD
IGF2R	P11717	p.Gly604Val	rs748416838	missense variant	-	NC_000006.12:g.160045790G>T	ExAC,gnomAD
IGF2R	P11717	p.Gly604Ser	rs8191797	missense variant	-	NC_000006.12:g.160045789G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly604Ser	rs8191797	missense variant	-	NC_000006.12:g.160045789G>A	UniProt,dbSNP
IGF2R	P11717	p.Gly604Ser	VAR_020473	missense variant	-	NC_000006.12:g.160045789G>A	UniProt
IGF2R	P11717	p.Cys605Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160045792T>A	NCI-TCGA
IGF2R	P11717	p.Tyr607LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160045794_160045795insT	NCI-TCGA
IGF2R	P11717	p.Glu610Gln	rs778089919	missense variant	-	NC_000006.12:g.160045807G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His612Gln	rs1372630066	missense variant	-	NC_000006.12:g.160045815C>G	gnomAD
IGF2R	P11717	p.Ala614Val	rs770975694	missense variant	-	NC_000006.12:g.160045820C>T	ExAC,gnomAD
IGF2R	P11717	p.Ala615Val	rs1392718372	missense variant	-	NC_000006.12:g.160045823C>T	TOPMed,gnomAD
IGF2R	P11717	p.Ala615Val	rs1392718372	missense variant	-	NC_000006.12:g.160045823C>T	NCI-TCGA
IGF2R	P11717	p.Ala616Gly	rs199887623	missense variant	-	NC_000006.12:g.160045826C>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala616Pro	rs775893163	missense variant	-	NC_000006.12:g.160045825G>C	ExAC,gnomAD
IGF2R	P11717	p.Lys621Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160045842G>T	NCI-TCGA
IGF2R	P11717	p.Gly624Glu	rs1288029582	missense variant	-	NC_000006.12:g.160045850G>A	TOPMed
IGF2R	P11717	p.Gly624Trp	rs767179912	missense variant	-	NC_000006.12:g.160045849G>T	ExAC,gnomAD
IGF2R	P11717	p.Glu625Asp	COSM4854507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160045854G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Asn626Lys	COSM6105729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160045857C>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Asn626Ser	rs1346954194	missense variant	-	NC_000006.12:g.160045856A>G	TOPMed
IGF2R	P11717	p.Thr628Met	rs144416773	missense variant	-	NC_000006.12:g.160045862C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser632Cys	rs139477448	missense variant	-	NC_000006.12:g.160045874C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe636Leu	rs776232495	missense variant	-	NC_000006.12:g.160046500T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe636Cys	rs1213057841	missense variant	-	NC_000006.12:g.160046501T>G	TOPMed,gnomAD
IGF2R	P11717	p.Ser637Tyr	COSM1441948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160046504C>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Ser641Pro	rs758918651	missense variant	-	NC_000006.12:g.160046515T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro642Ala	rs200122731	missense variant	-	NC_000006.12:g.160046518C>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Pro642Ser	rs200122731	missense variant	-	NC_000006.12:g.160046518C>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Thr644Lys	rs1410614111	missense variant	-	NC_000006.12:g.160046525C>A	gnomAD
IGF2R	P11717	p.Lys645Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160046529G>T	NCI-TCGA
IGF2R	P11717	p.Lys646Arg	rs758332818	missense variant	-	NC_000006.12:g.160046531A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn647Ser	rs763966122	missense variant	-	NC_000006.12:g.160046534A>G	ExAC,gnomAD
IGF2R	P11717	p.Gly648Val	rs757470554	missense variant	-	NC_000006.12:g.160046537G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly648Asp	rs757470554	missense variant	-	NC_000006.12:g.160046537G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala649Val	rs781232497	missense variant	-	NC_000006.12:g.160046540C>T	ExAC,gnomAD
IGF2R	P11717	p.Tyr650Cys	rs572302787	missense variant	-	NC_000006.12:g.160046543A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Lys651Glu	rs754736133	missense variant	-	NC_000006.12:g.160046545A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val652Phe	rs202075954	missense variant	-	NC_000006.12:g.160046548G>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Val652Ala	rs749794031	missense variant	-	NC_000006.12:g.160046549T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr654Ala	rs769069565	missense variant	-	NC_000006.12:g.160046554A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys656Asn	COSM4414515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160046562G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Tyr657Asp	COSM275544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160046563T>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Asp658Asn	rs1234452122	missense variant	-	NC_000006.12:g.160046566G>A	gnomAD
IGF2R	P11717	p.Phe659Leu	rs1319998078	missense variant	-	NC_000006.12:g.160046571T>G	TOPMed
IGF2R	P11717	p.Tyr660His	rs945752438	missense variant	-	NC_000006.12:g.160046572T>C	TOPMed
IGF2R	P11717	p.Tyr660Phe	rs770634655	missense variant	-	NC_000006.12:g.160046573A>T	ExAC,gnomAD
IGF2R	P11717	p.Val663Leu	rs1229085860	missense variant	-	NC_000006.12:g.160046581G>T	TOPMed
IGF2R	P11717	p.Pro666Leu	rs138451686	missense variant	-	NC_000006.12:g.160046591C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val667Ala	rs1276651264	missense variant	-	NC_000006.12:g.160046594T>C	TOPMed
IGF2R	P11717	p.Val667Leu	rs764832815	missense variant	-	NC_000006.12:g.160046593G>T	ExAC,gnomAD
IGF2R	P11717	p.Val669Leu	rs545812110	missense variant	-	NC_000006.12:g.160046599G>C	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val669Gly	rs1268560139	missense variant	-	NC_000006.12:g.160046600T>G	gnomAD
IGF2R	P11717	p.Ser670Asn	rs762960811	missense variant	-	NC_000006.12:g.160046603G>A	ExAC,gnomAD
IGF2R	P11717	p.Ser670Thr	rs762960811	missense variant	-	NC_000006.12:g.160046603G>C	ExAC,gnomAD
IGF2R	P11717	p.Asp675His	rs147174872	missense variant	-	NC_000006.12:g.160046617G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser676Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160046621C>G	NCI-TCGA
IGF2R	P11717	p.Gly677Glu	rs1402633090	missense variant	-	NC_000006.12:g.160046624G>A	TOPMed
IGF2R	P11717	p.Ala678Gly	rs201536836	missense variant	-	NC_000006.12:g.160046627C>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala678Asp	rs201536836	missense variant	-	NC_000006.12:g.160046627C>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln680His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160046634G>T	NCI-TCGA
IGF2R	P11717	p.Val681Leu	rs767795774	missense variant	-	NC_000006.12:g.160046635G>C	ExAC,gnomAD
IGF2R	P11717	p.Lys683Glu	rs750546905	missense variant	-	NC_000006.12:g.160046641A>G	ExAC,gnomAD
IGF2R	P11717	p.Ser684ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160046640A>-	NCI-TCGA
IGF2R	P11717	p.Ser684Arg	rs767214007	missense variant	-	NC_000006.12:g.160047159T>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu686Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160047164A>G	NCI-TCGA
IGF2R	P11717	p.Leu691Val	rs760868208	missense variant	-	NC_000006.12:g.160047178T>G	ExAC,gnomAD
IGF2R	P11717	p.Gly692Asp	rs1271975009	missense variant	-	NC_000006.12:g.160047182G>A	gnomAD
IGF2R	P11717	p.Asn695Asp	rs753954520	missense variant	-	NC_000006.12:g.160047190A>G	ExAC,gnomAD
IGF2R	P11717	p.Ala696Val	rs754988891	missense variant	-	NC_000006.12:g.160047194C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser699Pro	rs1212162904	missense variant	-	NC_000006.12:g.160047202T>C	gnomAD
IGF2R	P11717	p.Tyr700Cys	rs184993631	missense variant	-	NC_000006.12:g.160047206A>G	1000Genomes,TOPMed,gnomAD
IGF2R	P11717	p.Tyr700His	rs1465048288	missense variant	-	NC_000006.12:g.160047205T>C	gnomAD
IGF2R	P11717	p.Tyr701Cys	rs758866315	missense variant	-	NC_000006.12:g.160047209A>G	ExAC
IGF2R	P11717	p.Gly703Glu	rs777970108	missense variant	-	NC_000006.12:g.160047215G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln706His	rs745584305	missense variant	-	NC_000006.12:g.160047225A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr709Cys	rs779812734	missense variant	-	NC_000006.12:g.160047233A>G	ExAC,gnomAD
IGF2R	P11717	p.Gly711Ser	rs748811238	missense variant	-	NC_000006.12:g.160047238G>A	ExAC,gnomAD
IGF2R	P11717	p.Gly712Ser	rs774403150	missense variant	-	NC_000006.12:g.160047241G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr713Ile	rs1430021770	missense variant	-	NC_000006.12:g.160047245C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Thr713Ala	rs547601296	missense variant	-	NC_000006.12:g.160047244A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Thr713Ile	rs1430021770	missense variant	-	NC_000006.12:g.160047245C>T	gnomAD
IGF2R	P11717	p.Tyr715Cys	rs1391803908	missense variant	-	NC_000006.12:g.160047251A>G	TOPMed
IGF2R	P11717	p.Asn716Ser	rs766597081	missense variant	-	NC_000006.12:g.160047254A>G	ExAC,gnomAD
IGF2R	P11717	p.Arg719Thr	rs151323353	missense variant	-	NC_000006.12:g.160047263G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His720Arg	rs370316128	missense variant	-	NC_000006.12:g.160047266A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro722Leu	rs140582388	missense variant	-	NC_000006.12:g.160047272C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro722Ala	rs764614349	missense variant	-	NC_000006.12:g.160047271C>G	ExAC,gnomAD
IGF2R	P11717	p.Arg723Lys	rs779865617	missense variant	-	NC_000006.12:g.160047275G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg723Thr	rs779865617	missense variant	-	NC_000006.12:g.160047275G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala724Thr	rs6413491	missense variant	-	NC_000006.12:g.160047277G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala724Pro	rs6413491	missense variant	-	NC_000006.12:g.160047277G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala724Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160047278C>G	NCI-TCGA
IGF2R	P11717	p.Ala724Ser	rs6413491	missense variant	-	NC_000006.12:g.160047277G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr725Met	rs549860218	missense variant	-	NC_000006.12:g.160047281C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu726Phe	rs1406009422	missense variant	-	NC_000006.12:g.160047283C>T	gnomAD
IGF2R	P11717	p.Ile727Val	rs1458941715	missense variant	-	NC_000006.12:g.160047286A>G	TOPMed
IGF2R	P11717	p.Thr728Pro	rs1258419770	missense variant	-	NC_000006.12:g.160047289A>C	TOPMed
IGF2R	P11717	p.Thr728Asn	rs1202961575	missense variant	-	NC_000006.12:g.160047290C>A	TOPMed
IGF2R	P11717	p.Leu730Val	rs201939968	missense variant	-	NC_000006.12:g.160047295C>G	gnomAD
IGF2R	P11717	p.Leu730Phe	rs201939968	missense variant	-	NC_000006.12:g.160047295C>T	gnomAD
IGF2R	P11717	p.Arg733Gln	rs1374035109	missense variant	-	NC_000006.12:g.160047305G>A	TOPMed,gnomAD
IGF2R	P11717	p.Arg733Ter	rs1174312901	stop gained	-	NC_000006.12:g.160047304C>T	gnomAD
IGF2R	P11717	p.Asp734ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160047305_160047306insT	NCI-TCGA
IGF2R	P11717	p.Ala735Val	rs766058744	missense variant	-	NC_000006.12:g.160047311C>T	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Ala735Thr	rs762519931	missense variant	-	NC_000006.12:g.160047310G>A	NCI-TCGA
IGF2R	P11717	p.Ala735Val	rs766058744	missense variant	-	NC_000006.12:g.160047311C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala735Thr	rs762519931	missense variant	-	NC_000006.12:g.160047310G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val737Gly	rs1278169341	missense variant	-	NC_000006.12:g.160047317T>G	gnomAD
IGF2R	P11717	p.Gly738Cys	COSM6173006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160047319G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Pro740Leu	rs1349476230	missense variant	-	NC_000006.12:g.160047326C>T	gnomAD
IGF2R	P11717	p.Tyr742Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160047332A>G	NCI-TCGA
IGF2R	P11717	p.Glu744Gly	rs1180963771	missense variant	-	NC_000006.12:g.160047793A>G	TOPMed
IGF2R	P11717	p.Asp746His	rs576235325	missense variant	-	NC_000006.12:g.160047798G>C	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Tyr750Phe	rs972146805	missense variant	-	NC_000006.12:g.160047811A>T	TOPMed
IGF2R	P11717	p.Asn751Ser	rs768041177	missense variant	-	NC_000006.12:g.160047814A>G	ExAC,gnomAD
IGF2R	P11717	p.Asn751Thr	rs768041177	missense variant	-	NC_000006.12:g.160047814A>C	ExAC,gnomAD
IGF2R	P11717	p.Asn751Asp	rs762376489	missense variant	-	NC_000006.12:g.160047813A>G	ExAC,gnomAD
IGF2R	P11717	p.Phe752Leu	rs750837008	missense variant	-	NC_000006.12:g.160047818C>G	ExAC,gnomAD
IGF2R	P11717	p.Arg753GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160047818C>-	NCI-TCGA
IGF2R	P11717	p.Arg753Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160047820G>T	NCI-TCGA
IGF2R	P11717	p.Arg753Trp	rs146539241	missense variant	-	NC_000006.12:g.160047819C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg753Trp	rs146539241	missense variant	-	NC_000006.12:g.160047819C>T	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Arg753Gln	rs141234361	missense variant	-	NC_000006.12:g.160047820G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr755His	rs1439764235	missense variant	-	NC_000006.12:g.160047825T>C	gnomAD
IGF2R	P11717	p.Tyr755Ter	COSM1441949	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160047827C>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Tyr755Phe	rs757916334	missense variant	-	NC_000006.12:g.160047826A>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr755Cys	rs757916334	missense variant	-	NC_000006.12:g.160047826A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr758Cys	rs1185482261	missense variant	-	NC_000006.12:g.160047835A>G	TOPMed,gnomAD
IGF2R	P11717	p.Ala759Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160047837G>A	NCI-TCGA
IGF2R	P11717	p.Ala759Ser	rs1225134287	missense variant	-	NC_000006.12:g.160047837G>T	gnomAD
IGF2R	P11717	p.Pro761Gln	rs201251256	missense variant	-	NC_000006.12:g.160047844C>A	NCI-TCGA
IGF2R	P11717	p.Pro761Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160047843C>A	NCI-TCGA
IGF2R	P11717	p.Pro761Arg	rs201251256	missense variant	-	NC_000006.12:g.160047844C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro761Leu	rs201251256	missense variant	-	NC_000006.12:g.160047844C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro761Gln	rs201251256	missense variant	-	NC_000006.12:g.160047844C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu763Gln	rs373008966	missense variant	-	NC_000006.12:g.160047849G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu763Lys	rs373008966	missense variant	-	NC_000006.12:g.160047849G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro764His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160047853C>A	NCI-TCGA
IGF2R	P11717	p.Pro764Thr	rs969749491	missense variant	-	NC_000006.12:g.160047852C>A	TOPMed
IGF2R	P11717	p.Pro764Ala	rs969749491	missense variant	-	NC_000006.12:g.160047852C>G	TOPMed
IGF2R	P11717	p.Pro764Ser	rs969749491	missense variant	-	NC_000006.12:g.160047852C>T	TOPMed
IGF2R	P11717	p.Cys767Trp	rs200311686	missense variant	-	NC_000006.12:g.160047863C>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys767Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160047862G>A	NCI-TCGA
IGF2R	P11717	p.Val768Ala	rs749520429	missense variant	-	NC_000006.12:g.160047865T>C	ExAC,gnomAD
IGF2R	P11717	p.Val768Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160047865T>A	NCI-TCGA
IGF2R	P11717	p.Val768Ile	rs780198115	missense variant	-	NC_000006.12:g.160047864G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp771Glu	rs1461079755	missense variant	-	NC_000006.12:g.160047875C>A	gnomAD
IGF2R	P11717	p.Pro772Ser	rs77985420	missense variant	-	NC_000006.12:g.160047876C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro772Leu	rs1423491119	missense variant	-	NC_000006.12:g.160047877C>T	gnomAD
IGF2R	P11717	p.Ser773Pro	rs761932623	missense variant	-	NC_000006.12:g.160047879T>C	ExAC,gnomAD
IGF2R	P11717	p.Thr774Ala	rs773784277	missense variant	-	NC_000006.12:g.160047882A>G	ExAC,gnomAD
IGF2R	P11717	p.Thr774Met	rs202147312	missense variant	-	NC_000006.12:g.160047883C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu776Asp	rs1393955697	missense variant	-	NC_000006.12:g.160047890G>C	TOPMed,gnomAD
IGF2R	P11717	p.Asp779Asn	rs1386698425	missense variant	-	NC_000006.12:g.160047897G>A	gnomAD
IGF2R	P11717	p.Asp779Asn	rs1386698425	missense variant	-	NC_000006.12:g.160047897G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Ser782Gly	rs1379957471	missense variant	-	NC_000006.12:g.160047906A>G	gnomAD
IGF2R	P11717	p.Lys785Gln	rs1285638277	missense variant	-	NC_000006.12:g.160048382A>C	TOPMed
IGF2R	P11717	p.Ser786Tyr	rs1318938303	missense variant	-	NC_000006.12:g.160048386C>A	gnomAD
IGF2R	P11717	p.Leu790Phe	rs1237202677	missense variant	-	NC_000006.12:g.160048397C>T	gnomAD
IGF2R	P11717	p.Gly792Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160048403G>A	NCI-TCGA
IGF2R	P11717	p.Asn793Lys	rs1348760257	missense variant	-	NC_000006.12:g.160048408C>G	gnomAD
IGF2R	P11717	p.Met797Val	rs1213127240	missense variant	-	NC_000006.12:g.160048418A>G	gnomAD
IGF2R	P11717	p.Met797Thr	rs777079679	missense variant	-	NC_000006.12:g.160048419T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp798Gly	rs1483225969	missense variant	-	NC_000006.12:g.160048422A>G	gnomAD
IGF2R	P11717	p.Asp798Glu	rs759780133	missense variant	-	NC_000006.12:g.160048423C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser800Thr	rs1244497922	missense variant	-	NC_000006.12:g.160048427T>A	TOPMed
IGF2R	P11717	p.His803Arg	rs567853736	missense variant	-	NC_000006.12:g.160048437A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Val804Ile	rs1177687691	missense variant	-	NC_000006.12:g.160048439G>A	gnomAD
IGF2R	P11717	p.Thr805Met	rs141420320	missense variant	-	NC_000006.12:g.160048443C>T	NCI-TCGA
IGF2R	P11717	p.Thr805Arg	rs141420320	missense variant	-	NC_000006.12:g.160048443C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr805Lys	rs141420320	missense variant	-	NC_000006.12:g.160048443C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr805Met	rs141420320	missense variant	-	NC_000006.12:g.160048443C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg807Lys	rs766175962	missense variant	-	NC_000006.12:g.160048449G>A	ExAC,gnomAD
IGF2R	P11717	p.Val813Met	rs377727413	missense variant	-	NC_000006.12:g.160048466G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg815Gln	rs779287831	missense variant	-	NC_000006.12:g.160048473G>A	NCI-TCGA
IGF2R	P11717	p.Arg815Gln	rs779287831	missense variant	-	NC_000006.12:g.160048473G>A	ExAC,gnomAD
IGF2R	P11717	p.Pro816Leu	rs758595806	missense variant	-	NC_000006.12:g.160048476C>T	ExAC,gnomAD
IGF2R	P11717	p.Pro816Ser	rs748380169	missense variant	-	NC_000006.12:g.160048475C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu817Val	rs8191808	missense variant	-	NC_000006.12:g.160048478C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu817Val	rs8191808	missense variant	-	NC_000006.12:g.160048478C>G	UniProt,dbSNP
IGF2R	P11717	p.Leu817Val	VAR_021308	missense variant	-	NC_000006.12:g.160048478C>G	UniProt
IGF2R	P11717	p.Asn818Tyr	rs747014235	missense variant	-	NC_000006.12:g.160048481A>T	ExAC,gnomAD
IGF2R	P11717	p.Pro819Ser	rs771501337	missense variant	-	NC_000006.12:g.160048484C>T	ExAC,gnomAD
IGF2R	P11717	p.Val820Leu	rs1312101321	missense variant	-	NC_000006.12:g.160048487G>C	gnomAD
IGF2R	P11717	p.Pro821Leu	rs150801390	missense variant	-	NC_000006.12:g.160048491C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro821Ser	rs1162497382	missense variant	-	NC_000006.12:g.160048490C>T	TOPMed
IGF2R	P11717	p.Gly822Ala	rs774057008	missense variant	-	NC_000006.12:g.160048494G>C	ExAC,gnomAD
IGF2R	P11717	p.Gly822Ser	rs1188540549	missense variant	-	NC_000006.12:g.160048493G>A	TOPMed
IGF2R	P11717	p.Gly822Val	rs774057008	missense variant	-	NC_000006.12:g.160048494G>T	ExAC,gnomAD
IGF2R	P11717	p.Asn824Lys	rs553744228	missense variant	-	NC_000006.12:g.160048501C>G	ExAC,gnomAD
IGF2R	P11717	p.Asn824Ser	rs370843412	missense variant	-	NC_000006.12:g.160048500A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg825Gln	rs137887848	missense variant	-	NC_000006.12:g.160048503G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg825Ter	rs201793317	stop gained	-	NC_000006.12:g.160048502C>T	TOPMed
IGF2R	P11717	p.Tyr826His	rs186491261	missense variant	-	NC_000006.12:g.160048505T>C	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Tyr826Cys	rs754874300	missense variant	-	NC_000006.12:g.160048506A>G	ExAC,gnomAD
IGF2R	P11717	p.Ser828Leu	rs577548757	missense variant	-	NC_000006.12:g.160048512C>T	NCI-TCGA
IGF2R	P11717	p.Ser828Leu	rs577548757	missense variant	-	NC_000006.12:g.160048512C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys830Phe	rs74530274	missense variant	-	NC_000006.12:g.160048518G>T	ExAC,gnomAD
IGF2R	P11717	p.Gln831His	rs1273120818	missense variant	-	NC_000006.12:g.160048522G>C	gnomAD
IGF2R	P11717	p.Met832Thr	rs757228085	missense variant	-	NC_000006.12:g.160048524T>C	ExAC,gnomAD
IGF2R	P11717	p.Tyr834Cys	rs1215255687	missense variant	-	NC_000006.12:g.160048530A>G	gnomAD
IGF2R	P11717	p.Glu835Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160048532G>C	NCI-TCGA
IGF2R	P11717	p.Glu835Ala	rs1298288294	missense variant	-	NC_000006.12:g.160048533A>C	gnomAD
IGF2R	P11717	p.Glu835Gly	rs1298288294	missense variant	-	NC_000006.12:g.160048533A>G	gnomAD
IGF2R	P11717	p.Lys836Arg	rs1306302735	missense variant	-	NC_000006.12:g.160048536A>G	gnomAD
IGF2R	P11717	p.Asp837Gly	COSM4931618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160048539A>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Asp837His	rs1295675297	missense variant	-	NC_000006.12:g.160048538G>C	TOPMed
IGF2R	P11717	p.Asp837Tyr	rs1295675297	missense variant	-	NC_000006.12:g.160048538G>T	TOPMed
IGF2R	P11717	p.Gln838Arg	rs1218356059	missense variant	-	NC_000006.12:g.160048542A>G	gnomAD
IGF2R	P11717	p.Gln838Lys	rs1234390104	missense variant	-	NC_000006.12:g.160048541C>A	TOPMed
IGF2R	P11717	p.Gly839Cys	rs765219202	missense variant	-	NC_000006.12:g.160050473G>T	ExAC
IGF2R	P11717	p.Phe841Val	rs1474064627	missense variant	-	NC_000006.12:g.160050479T>G	gnomAD
IGF2R	P11717	p.Thr842Ala	rs1162464204	missense variant	-	NC_000006.12:g.160050482A>G	gnomAD
IGF2R	P11717	p.Glu843Asp	rs1411636595	missense variant	-	NC_000006.12:g.160050487A>C	TOPMed
IGF2R	P11717	p.Val844Met	rs762770473	missense variant	-	NC_000006.12:g.160050488G>A	ExAC,gnomAD
IGF2R	P11717	p.Ile847Val	rs939293106	missense variant	-	NC_000006.12:g.160050497A>G	TOPMed,gnomAD
IGF2R	P11717	p.Ile847Phe	rs939293106	missense variant	-	NC_000006.12:g.160050497A>T	TOPMed,gnomAD
IGF2R	P11717	p.Asn849Ser	rs201063267	missense variant	-	NC_000006.12:g.160050504A>G	1000Genomes,TOPMed
IGF2R	P11717	p.Leu850Ser	rs751718234	missense variant	-	NC_000006.12:g.160050507T>C	ExAC,gnomAD
IGF2R	P11717	p.Met852Thr	rs757425688	missense variant	-	NC_000006.12:g.160050513T>C	ExAC,gnomAD
IGF2R	P11717	p.Met852Ile	rs781099560	missense variant	-	NC_000006.12:g.160050514G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala853Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160050515G>A	NCI-TCGA
IGF2R	P11717	p.Ala853Gly	rs1249219676	missense variant	-	NC_000006.12:g.160050516C>G	TOPMed
IGF2R	P11717	p.Lys854Thr	COSM281871	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160050519A>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Thr855Ile	rs538794505	missense variant	-	NC_000006.12:g.160050522C>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Gly856Arg	rs8191819	missense variant	-	NC_000006.12:g.160050524G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly856Asp	rs1022077229	missense variant	-	NC_000006.12:g.160050525G>A	TOPMed
IGF2R	P11717	p.Gly856Ser	rs8191819	missense variant	-	NC_000006.12:g.160050524G>A	UniProt,dbSNP
IGF2R	P11717	p.Gly856Ser	VAR_020475	missense variant	-	NC_000006.12:g.160050524G>A	UniProt
IGF2R	P11717	p.Gly856Ser	rs8191819	missense variant	-	NC_000006.12:g.160050524G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro857Leu	rs370610400	missense variant	-	NC_000006.12:g.160050528C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val858Met	rs1034699470	missense variant	-	NC_000006.12:g.160050530G>A	TOPMed,gnomAD
IGF2R	P11717	p.Ser862Asn	rs746633948	missense variant	-	NC_000006.12:g.160050543G>A	ExAC,gnomAD
IGF2R	P11717	p.Gly863Asp	rs555046308	missense variant	-	NC_000006.12:g.160050546G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly863Ser	rs776307638	missense variant	-	NC_000006.12:g.160050545G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser864Thr	rs769861600	missense variant	-	NC_000006.12:g.160050549G>C	ExAC,gnomAD
IGF2R	P11717	p.Leu866Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160050554C>T	NCI-TCGA
IGF2R	P11717	p.Leu866Ile	rs192620654	missense variant	-	NC_000006.12:g.160050554C>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu868Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160050562A>C	NCI-TCGA
IGF2R	P11717	p.Tyr869Cys	rs1179226963	missense variant	-	NC_000006.12:g.160050564A>G	gnomAD
IGF2R	P11717	p.Val870Met	rs763792356	missense variant	-	NC_000006.12:g.160050566G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val870Glu	rs145137003	missense variant	-	NC_000006.12:g.160050567T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser873Leu	rs199514599	missense variant	-	NC_000006.12:g.160050576C>T	ESP,TOPMed,gnomAD
IGF2R	P11717	p.Ser873Leu	rs199514599	missense variant	-	NC_000006.12:g.160050576C>T	NCI-TCGA
IGF2R	P11717	p.Ala874Thr	rs200666137	missense variant	-	NC_000006.12:g.160050578G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala874Val	rs1015854762	missense variant	-	NC_000006.12:g.160050579C>T	TOPMed,gnomAD
IGF2R	P11717	p.Thr876Ile	rs974270653	missense variant	-	NC_000006.12:g.160050585C>T	TOPMed
IGF2R	P11717	p.Ser878Gly	rs370156844	missense variant	-	NC_000006.12:g.160050590A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser878Thr	rs546014721	missense variant	-	NC_000006.12:g.160050591G>C	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser878Asn	rs546014721	missense variant	-	NC_000006.12:g.160050591G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser878Arg	rs755433857	missense variant	-	NC_000006.12:g.160050592C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp879Asn	rs779127608	missense variant	-	NC_000006.12:g.160050593G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Asp879Asn	rs779127608	missense variant	-	NC_000006.12:g.160050593G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly880Ser	rs1199865335	missense variant	-	NC_000006.12:g.160050596G>A	gnomAD
IGF2R	P11717	p.Arg881Gly	rs1439276520	missense variant	-	NC_000006.12:g.160050599A>G	gnomAD
IGF2R	P11717	p.Thr884Ala	rs756892830	missense variant	-	NC_000006.12:g.160050608A>G	ExAC
IGF2R	P11717	p.Thr886Ile	rs745385220	missense variant	-	NC_000006.12:g.160050615C>T	ExAC,gnomAD
IGF2R	P11717	p.Thr886Asn	rs745385220	missense variant	-	NC_000006.12:g.160050615C>A	ExAC,gnomAD
IGF2R	P11717	p.Thr887Met	rs752875889	missense variant	-	NC_000006.12:g.160050618C>T	NCI-TCGA
IGF2R	P11717	p.Thr887Met	rs752875889	missense variant	-	NC_000006.12:g.160050618C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile889Leu	rs374454730	missense variant	-	NC_000006.12:g.160050623A>C	ESP,ExAC,gnomAD
IGF2R	P11717	p.His890Tyr	rs368684078	missense variant	-	NC_000006.12:g.160050626C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val892Ile	rs372347541	missense variant	-	NC_000006.12:g.160050632G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val892Phe	rs372347541	missense variant	-	NC_000006.12:g.160050632G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser894Pro	rs781554746	missense variant	-	NC_000006.12:g.160050638T>C	gnomAD
IGF2R	P11717	p.Arg895Lys	rs766438991	missense variant	-	NC_000006.12:g.160050642G>A	ExAC,gnomAD
IGF2R	P11717	p.Arg895Ser	rs146646011	missense variant	-	NC_000006.12:g.160050643G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly896Asp	rs1173449807	missense variant	-	NC_000006.12:g.160050645G>A	TOPMed
IGF2R	P11717	p.Arg897Ser	rs375624444	missense variant	-	NC_000006.12:g.160050649G>C	ESP,ExAC,gnomAD
IGF2R	P11717	p.Arg897Met	rs1413098882	missense variant	-	NC_000006.12:g.160050648G>T	TOPMed
IGF2R	P11717	p.Asn899Ser	rs766542129	missense variant	-	NC_000006.12:g.160056425A>G	ExAC,gnomAD
IGF2R	P11717	p.Pro902Arg	rs1215752101	missense variant	-	NC_000006.12:g.160056434C>G	TOPMed
IGF2R	P11717	p.Ile903Val	rs560301920	missense variant	-	NC_000006.12:g.160056436A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Phe904Leu	rs1336004363	missense variant	-	NC_000006.12:g.160056439T>C	TOPMed
IGF2R	P11717	p.Leu906Phe	rs376558845	missense variant	-	NC_000006.12:g.160056445C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu906Val	rs376558845	missense variant	-	NC_000006.12:g.160056445C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn907Lys	rs368664310	missense variant	-	NC_000006.12:g.160056450C>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys910Arg	COSM3622477	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160056457T>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Trp916Ter	COSM6105728	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160056477G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Asn917Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160056478A>G	NCI-TCGA
IGF2R	P11717	p.Ala921Val	rs1391626212	missense variant	-	NC_000006.12:g.160056491C>T	TOPMed
IGF2R	P11717	p.Ile924Val	rs1457140363	missense variant	-	NC_000006.12:g.160056499A>G	gnomAD
IGF2R	P11717	p.Gln925Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160056502C>T	NCI-TCGA
IGF2R	P11717	p.Gln925Glu	COSM741319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160056502C>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Thr927Arg	rs779810760	missense variant	-	NC_000006.12:g.160056509C>G	ExAC,gnomAD
IGF2R	P11717	p.Thr927Met	rs779810760	missense variant	-	NC_000006.12:g.160056509C>T	ExAC,gnomAD
IGF2R	P11717	p.Thr927Met	rs779810760	missense variant	-	NC_000006.12:g.160056509C>T	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Thr928Met	rs373268009	missense variant	-	NC_000006.12:g.160056512C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr930Ile	rs907817811	missense variant	-	NC_000006.12:g.160056518C>T	gnomAD
IGF2R	P11717	p.Ala933Pro	rs1407713998	missense variant	-	NC_000006.12:g.160058023G>C	TOPMed,gnomAD
IGF2R	P11717	p.Ile936Val	rs770703028	missense variant	-	NC_000006.12:g.160058032A>G	ExAC,gnomAD
IGF2R	P11717	p.Arg937Ser	rs781337313	missense variant	-	NC_000006.12:g.160058037G>T	ExAC,gnomAD
IGF2R	P11717	p.Ser941Gly	rs769815431	missense variant	-	NC_000006.12:g.160058047A>G	ExAC,gnomAD
IGF2R	P11717	p.Pro949Leu	rs143641833	missense variant	-	NC_000006.12:g.160058072C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser952Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160058081G>T	NCI-TCGA
IGF2R	P11717	p.Ser952Cys	rs1299736765	missense variant	-	NC_000006.12:g.160058080A>T	gnomAD
IGF2R	P11717	p.Ser953Leu	rs199686579	missense variant	-	NC_000006.12:g.160058084C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr956Cys	rs1326579794	missense variant	-	NC_000006.12:g.160058093A>G	gnomAD
IGF2R	P11717	p.Asn957Ser	rs753468699	missense variant	-	NC_000006.12:g.160058096A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val958Ile	rs917236520	missense variant	-	NC_000006.12:g.160058098G>A	gnomAD
IGF2R	P11717	p.Gly960Ala	COSM3777284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160058105G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Lys963Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160058115G>T	NCI-TCGA
IGF2R	P11717	p.Ile964Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160058117T>A	NCI-TCGA
IGF2R	P11717	p.Ile964Phe	rs1440273084	missense variant	-	NC_000006.12:g.160058116A>T	TOPMed,gnomAD
IGF2R	P11717	p.Phe965ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160058118_160058122TTTTA>-	NCI-TCGA
IGF2R	P11717	p.Asn968Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160058909A>G	NCI-TCGA
IGF2R	P11717	p.Asn968Ser	rs755145153	missense variant	-	NC_000006.12:g.160058910A>G	ExAC,gnomAD
IGF2R	P11717	p.Val969Ile	COSM3860125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160058912G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Gly971Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160058918G>A	NCI-TCGA
IGF2R	P11717	p.Met973Val	rs773537372	missense variant	-	NC_000006.12:g.160058924A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Met973Thr	rs747467060	missense variant	-	NC_000006.12:g.160058925T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro974Leu	rs771198423	missense variant	-	NC_000006.12:g.160058928C>T	ExAC,gnomAD
IGF2R	P11717	p.Val975Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160058930G>A	NCI-TCGA
IGF2R	P11717	p.Gly977Arg	rs140478501	missense variant	-	NC_000006.12:g.160058936G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr978Ser	rs773883927	missense variant	-	NC_000006.12:g.160058940C>G	ExAC,gnomAD
IGF2R	P11717	p.Leu980Val	rs533866817	missense variant	-	NC_000006.12:g.160058945C>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu980Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160058945C>A	NCI-TCGA
IGF2R	P11717	p.Lys982Arg	rs767501582	missense variant	-	NC_000006.12:g.160058952A>G	ExAC,gnomAD
IGF2R	P11717	p.Ser985Phe	rs1238690917	missense variant	-	NC_000006.12:g.160058961C>T	TOPMed
IGF2R	P11717	p.Ser985Ala	COSM3430311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160058960T>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Ala989Ser	COSM1075593	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160058972G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Ala989Gly	rs766245878	missense variant	-	NC_000006.12:g.160058973C>G	ExAC,gnomAD
IGF2R	P11717	p.Glu990Gln	rs1306519368	missense variant	-	NC_000006.12:g.160058975G>C	gnomAD
IGF2R	P11717	p.Gln992Pro	rs377188373	missense variant	-	NC_000006.12:g.160058982A>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr993Asn	rs779234498	missense variant	-	NC_000006.12:g.160058985C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu994Lys	rs1440412162	missense variant	-	NC_000006.12:g.160058987G>A	TOPMed,gnomAD
IGF2R	P11717	p.Glu995Asp	rs1209196882	missense variant	-	NC_000006.12:g.160058992G>C	gnomAD
IGF2R	P11717	p.Lys997Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160058998G>T	NCI-TCGA
IGF2R	P11717	p.Lys997Asn	rs200131537	missense variant	-	NC_000006.12:g.160058998G>C	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn998Asp	rs148885068	missense variant	-	NC_000006.12:g.160058999A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Trp999Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160059003G>T	NCI-TCGA
IGF2R	P11717	p.Trp999Arg	rs1285962840	missense variant	-	NC_000006.12:g.160059002T>A	TOPMed
IGF2R	P11717	p.Arg1003Met	rs1247029968	missense variant	-	NC_000006.12:g.160059015G>T	TOPMed
IGF2R	P11717	p.Pro1004Gln	rs201213784	missense variant	-	NC_000006.12:g.160059018C>A	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Pro1004Thr	rs771334588	missense variant	-	NC_000006.12:g.160059017C>A	ExAC,gnomAD
IGF2R	P11717	p.Pro1004Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160059017C>T	NCI-TCGA
IGF2R	P11717	p.Pro1004Leu	rs201213784	missense variant	-	NC_000006.12:g.160059018C>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Val1005Phe	rs768304274	missense variant	-	NC_000006.12:g.160059020G>T	ExAC,gnomAD
IGF2R	P11717	p.Gly1006Arg	rs761443178	missense variant	-	NC_000006.12:g.160059023G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys1009Arg	rs1400547009	missense variant	-	NC_000006.12:g.160059033A>G	gnomAD
IGF2R	P11717	p.Ser1010Asn	rs773865521	missense variant	-	NC_000006.12:g.160059036G>A	TOPMed,gnomAD
IGF2R	P11717	p.Leu1013Gln	rs771478146	missense variant	-	NC_000006.12:g.160059045T>A	ExAC,gnomAD
IGF2R	P11717	p.Gly1017Asp	rs143815364	missense variant	-	NC_000006.12:g.160059057G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe1018Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160059059T>G	NCI-TCGA
IGF2R	P11717	p.Phe1018Leu	COSM275545	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160059061C>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Thr1020Ser	rs1353397295	missense variant	-	NC_000006.12:g.160059066C>G	TOPMed,gnomAD
IGF2R	P11717	p.Thr1020Ile	rs1353397295	missense variant	-	NC_000006.12:g.160059066C>T	TOPMed,gnomAD
IGF2R	P11717	p.Leu1021Met	rs760503948	missense variant	-	NC_000006.12:g.160059068C>A	ExAC,gnomAD
IGF2R	P11717	p.Pro1026Leu	rs765615193	missense variant	-	NC_000006.12:g.160059084C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1026Arg	rs765615193	missense variant	-	NC_000006.12:g.160059084C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu1027Phe	rs752861340	missense variant	-	NC_000006.12:g.160059086C>T	ExAC
IGF2R	P11717	p.Ser1028Phe	rs1200823591	missense variant	-	NC_000006.12:g.160059090C>T	gnomAD
IGF2R	P11717	p.Lys1030Thr	rs199697619	missense variant	-	NC_000006.12:g.160059096A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1031Arg	rs2274850	missense variant	-	NC_000006.12:g.160059098G>C	gnomAD
IGF2R	P11717	p.Gly1031Asp	rs1237194476	missense variant	-	NC_000006.12:g.160060547G>A	TOPMed
IGF2R	P11717	p.Ala1033Thr	rs143408059	missense variant	-	NC_000006.12:g.160060552G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1033Pro	rs143408059	missense variant	-	NC_000006.12:g.160060552G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1035Thr	rs1404286976	missense variant	-	NC_000006.12:g.160060558G>A	TOPMed
IGF2R	P11717	p.Val1038Leu	rs775179985	missense variant	-	NC_000006.12:g.160060567G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1038Ile	rs775179985	missense variant	-	NC_000006.12:g.160060567G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Val1038Ile	rs775179985	missense variant	-	NC_000006.12:g.160060567G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1039His	rs764237014	missense variant	-	NC_000006.12:g.160060571G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1039Cys	rs1286018263	missense variant	-	NC_000006.12:g.160060570C>T	TOPMed,gnomAD
IGF2R	P11717	p.Phe1040Leu	rs774545193	missense variant	-	NC_000006.12:g.160060573T>C	ExAC,gnomAD
IGF2R	P11717	p.Phe1040Ile	rs774545193	missense variant	-	NC_000006.12:g.160060573T>A	ExAC,gnomAD
IGF2R	P11717	p.Asn1043Ser	rs201671465	missense variant	-	NC_000006.12:g.160060583A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1043Ile	rs201671465	missense variant	-	NC_000006.12:g.160060583A>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1043Lys	rs1261550813	missense variant	-	NC_000006.12:g.160060584T>G	gnomAD
IGF2R	P11717	p.Asn1043Ser	rs201671465	missense variant	-	NC_000006.12:g.160060583A>G	NCI-TCGA
IGF2R	P11717	p.Asp1044Glu	rs756636242	missense variant	-	NC_000006.12:g.160060587T>A	ExAC,gnomAD
IGF2R	P11717	p.Asp1044Gly	rs750976087	missense variant	-	NC_000006.12:g.160060586A>G	ExAC,gnomAD
IGF2R	P11717	p.Asp1045Gly	rs766865849	missense variant	-	NC_000006.12:g.160060589A>G	ExAC,gnomAD
IGF2R	P11717	p.Tyr1047His	rs1443441183	missense variant	-	NC_000006.12:g.160060594T>C	gnomAD
IGF2R	P11717	p.Ser1048Leu	rs754154384	missense variant	-	NC_000006.12:g.160060598C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys1052Thr	rs569566891	missense variant	-	NC_000006.12:g.160060610A>C	1000Genomes,ExAC
IGF2R	P11717	p.Gln1056Glu	rs777346478	missense variant	-	NC_000006.12:g.160060621C>G	ExAC,gnomAD
IGF2R	P11717	p.Asp1057Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160060626T>A	NCI-TCGA
IGF2R	P11717	p.Asp1057Tyr	rs746632237	missense variant	-	NC_000006.12:g.160060624G>T	ExAC,gnomAD
IGF2R	P11717	p.Ile1058Thr	rs756879925	missense variant	-	NC_000006.12:g.160060628T>C	ExAC,gnomAD
IGF2R	P11717	p.Asp1059Gly	rs769624561	missense variant	-	NC_000006.12:g.160060631A>G	ExAC,gnomAD
IGF2R	P11717	p.Asp1059Asn	rs745331709	missense variant	-	NC_000006.12:g.160060630G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln1062Arg	rs548550255	missense variant	-	NC_000006.12:g.160060640A>G	1000Genomes,ExAC
IGF2R	P11717	p.Arg1065Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160060648C>T	NCI-TCGA
IGF2R	P11717	p.Arg1065Gln	COSM1075595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160060649G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Asn1066Ser	rs768491459	missense variant	-	NC_000006.12:g.160060652A>G	ExAC,gnomAD
IGF2R	P11717	p.Thr1067Ala	rs1202586898	missense variant	-	NC_000006.12:g.160060654A>G	gnomAD
IGF2R	P11717	p.Phe1069Ser	rs762000469	missense variant	-	NC_000006.12:g.160060661T>C	ExAC,gnomAD
IGF2R	P11717	p.Glu1070Lys	rs772232123	missense variant	-	NC_000006.12:g.160060663G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1070Gln	rs772232123	missense variant	-	NC_000006.12:g.160060663G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1072Lys	rs199590661	missense variant	-	NC_000006.12:g.160060669G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1074Thr	rs201467256	missense variant	-	NC_000006.12:g.160060675G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1074Val	rs199563373	missense variant	-	NC_000006.12:g.160060676C>T	NCI-TCGA
IGF2R	P11717	p.Ala1074Val	rs199563373	missense variant	-	NC_000006.12:g.160060676C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu1075Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160060679T>C	NCI-TCGA
IGF2R	P11717	p.Ala1076Val	rs753063304	missense variant	-	NC_000006.12:g.160060682C>T	ExAC,gnomAD
IGF2R	P11717	p.Ala1076Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160060682C>A	NCI-TCGA
IGF2R	P11717	p.Val1078Ile	rs757000799	missense variant	-	NC_000006.12:g.160060687G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1081Ala	rs1444665551	missense variant	-	NC_000006.12:g.160060696C>G	gnomAD
IGF2R	P11717	p.Pro1081Leu	rs1306869781	missense variant	-	NC_000006.12:g.160060697C>T	TOPMed,gnomAD
IGF2R	P11717	p.Val1082Met	rs568048161	missense variant	-	NC_000006.12:g.160060699G>A	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Asp1083Ala	rs1235863249	missense variant	-	NC_000006.12:g.160060703A>C	gnomAD
IGF2R	P11717	p.Asp1083Glu	rs755640551	missense variant	-	NC_000006.12:g.160060704C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys1084Phe	rs779924269	missense variant	-	NC_000006.12:g.160060706G>T	ExAC,gnomAD
IGF2R	P11717	p.Gln1085Arg	rs1422306282	missense variant	-	NC_000006.12:g.160060709A>G	TOPMed
IGF2R	P11717	p.Leu1089Met	rs1459523235	missense variant	-	NC_000006.12:g.160061505C>A	gnomAD
IGF2R	P11717	p.Ala1090Thr	COSM3860126	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160061508G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Gly1091Arg	rs771012075	missense variant	-	NC_000006.12:g.160061511G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1091Glu	rs776805189	missense variant	-	NC_000006.12:g.160061512G>A	ExAC,gnomAD
IGF2R	P11717	p.Asp1095Asn	rs776131275	missense variant	-	NC_000006.12:g.160061523G>A	ExAC,gnomAD
IGF2R	P11717	p.Leu1096Gln	rs763481438	missense variant	-	NC_000006.12:g.160061527T>A	ExAC,gnomAD
IGF2R	P11717	p.Gly1098Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160061532G>A	NCI-TCGA
IGF2R	P11717	p.Gly1098Asp	rs764524212	missense variant	-	NC_000006.12:g.160061533G>A	ExAC,gnomAD
IGF2R	P11717	p.Thr1101Ile	rs544804928	missense variant	-	NC_000006.12:g.160061542C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1102Ile	rs1218481476	missense variant	-	NC_000006.12:g.160061544G>A	gnomAD
IGF2R	P11717	p.Val1102Leu	rs1218481476	missense variant	-	NC_000006.12:g.160061544G>C	gnomAD
IGF2R	P11717	p.Arg1103Ser	COSM3860127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160061549G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Trp1106Gly	rs1474544426	missense variant	-	NC_000006.12:g.160061556T>G	gnomAD
IGF2R	P11717	p.Thr1107Met	rs8191842	missense variant	-	NC_000006.12:g.160061560C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1107Met	rs8191842	missense variant	-	NC_000006.12:g.160061560C>T	UniProt,dbSNP
IGF2R	P11717	p.Thr1107Met	VAR_020476	missense variant	-	NC_000006.12:g.160061560C>T	UniProt
IGF2R	P11717	p.Ala1108Ser	rs1414809358	missense variant	-	NC_000006.12:g.160061562G>T	gnomAD
IGF2R	P11717	p.Val1109Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160061566T>A	NCI-TCGA
IGF2R	P11717	p.Asp1114Asn	rs150749328	missense variant	-	NC_000006.12:g.160061580G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys1117Arg	rs758227931	missense variant	-	NC_000006.12:g.160061590A>G	ExAC,gnomAD
IGF2R	P11717	p.Tyr1121Cys	rs746742322	missense variant	-	NC_000006.12:g.160061602A>G	ExAC,gnomAD
IGF2R	P11717	p.Tyr1121His	rs189904315	missense variant	-	NC_000006.12:g.160061601T>C	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Leu1122Phe	rs757507322	missense variant	-	NC_000006.12:g.160061606G>T	ExAC,gnomAD
IGF2R	P11717	p.Val1124Ile	rs8191843	missense variant	-	NC_000006.12:g.160061610G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Val1124Ile	rs8191843	missense variant	-	NC_000006.12:g.160061610G>A	UniProt,dbSNP
IGF2R	P11717	p.Val1124Ile	VAR_021309	missense variant	-	NC_000006.12:g.160061610G>A	UniProt
IGF2R	P11717	p.Val1124Ile	rs8191843	missense variant	-	NC_000006.12:g.160061610G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1126Ser	rs151180572	missense variant	-	NC_000006.12:g.160061617A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1127Ser	rs1258122169	missense variant	-	NC_000006.12:g.160061619C>T	TOPMed,gnomAD
IGF2R	P11717	p.Leu1128Phe	COSM3921018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160061622C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Pro1129Leu	rs1349071613	missense variant	-	NC_000006.12:g.160061626C>T	gnomAD
IGF2R	P11717	p.Gln1135Glu	rs759861254	missense variant	-	NC_000006.12:g.160061643C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1136Arg	rs749788190	missense variant	-	NC_000006.12:g.160061646G>C	ExAC,gnomAD
IGF2R	P11717	p.Gly1136Cys	rs749788190	missense variant	-	NC_000006.12:g.160061646G>T	ExAC,gnomAD
IGF2R	P11717	p.Ala1138Thr	rs776385309	missense variant	-	NC_000006.12:g.160061758G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Ala1138Thr	rs776385309	missense variant	-	NC_000006.12:g.160061758G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1139Met	rs1451408948	missense variant	-	NC_000006.12:g.160061761G>A	TOPMed,gnomAD
IGF2R	P11717	p.Val1144Glu	rs1489423009	missense variant	-	NC_000006.12:g.160061777T>A	TOPMed
IGF2R	P11717	p.Ser1145Leu	rs774986880	missense variant	-	NC_000006.12:g.160061780C>T	ExAC,gnomAD
IGF2R	P11717	p.Glu1146Val	rs1276555327	missense variant	-	NC_000006.12:g.160061783A>T	gnomAD
IGF2R	P11717	p.Trp1150Ter	rs762393487	stop gained	-	NC_000006.12:g.160061795G>A	ExAC,gnomAD
IGF2R	P11717	p.Val1155Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160061810T>C	NCI-TCGA
IGF2R	P11717	p.Gln1160Lys	rs1318930546	missense variant	-	NC_000006.12:g.160061824C>A	gnomAD
IGF2R	P11717	p.Ala1162Val	rs146152775	missense variant	-	NC_000006.12:g.160061831C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1162Thr	rs372971885	missense variant	-	NC_000006.12:g.160061830G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1162Thr	rs372971885	missense variant	-	NC_000006.12:g.160061830G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Ala1163Val	rs780352875	missense variant	-	NC_000006.12:g.160061834C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1163Val	rs780352875	missense variant	-	NC_000006.12:g.160061834C>T	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Gly1165Arg	rs1423871778	missense variant	-	NC_000006.12:g.160061839G>C	gnomAD
IGF2R	P11717	p.Gly1165Glu	rs754999313	missense variant	-	NC_000006.12:g.160061840G>A	ExAC,gnomAD
IGF2R	P11717	p.Ser1166Phe	rs748569814	missense variant	-	NC_000006.12:g.160061843C>T	ExAC,gnomAD
IGF2R	P11717	p.Ser1166Tyr	rs748569814	missense variant	-	NC_000006.12:g.160061843C>A	ExAC,gnomAD
IGF2R	P11717	p.Ser1168Asn	rs1405446066	missense variant	-	NC_000006.12:g.160061849G>A	gnomAD
IGF2R	P11717	p.Met1170Val	rs983196534	missense variant	-	NC_000006.12:g.160061854A>G	TOPMed,gnomAD
IGF2R	P11717	p.Val1172Ile	rs1404082675	missense variant	-	NC_000006.12:g.160061860G>A	gnomAD
IGF2R	P11717	p.Val1172Asp	rs747309472	missense variant	-	NC_000006.12:g.160061861T>A	ExAC,gnomAD
IGF2R	P11717	p.Asn1173Ser	rs200088387	missense variant	-	NC_000006.12:g.160061864A>G	TOPMed,gnomAD
IGF2R	P11717	p.Asp1175Gly	rs1268651654	missense variant	-	NC_000006.12:g.160061870A>G	gnomAD
IGF2R	P11717	p.Arg1181His	rs1163791848	missense variant	-	NC_000006.12:g.160061888G>A	TOPMed
IGF2R	P11717	p.Arg1181Cys	rs201023219	missense variant	-	NC_000006.12:g.160061887C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1184Ile	rs8191844	missense variant	-	NC_000006.12:g.160061897C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1184Ser	rs8191844	missense variant	-	NC_000006.12:g.160061897C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1184Ser	rs8191844	missense variant	-	NC_000006.12:g.160061897C>G	UniProt,dbSNP
IGF2R	P11717	p.Thr1184Ser	VAR_020477	missense variant	-	NC_000006.12:g.160061897C>G	UniProt
IGF2R	P11717	p.Arg1185Gly	rs767446304	missense variant	-	NC_000006.12:g.160061899A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile1186Met	rs750245956	missense variant	-	NC_000006.12:g.160061904C>G	ExAC,gnomAD
IGF2R	P11717	p.Thr1187Met	rs368872465	missense variant	-	NC_000006.12:g.160061906C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe1188Leu	rs1372177784	missense variant	-	NC_000006.12:g.160061910T>G	gnomAD
IGF2R	P11717	p.Ser1194Thr	rs544201211	missense variant	-	NC_000006.12:g.160061926T>A	TOPMed,gnomAD
IGF2R	P11717	p.Ser1194Leu	rs117358940	missense variant	-	NC_000006.12:g.160061927C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1194Trp	rs117358940	missense variant	-	NC_000006.12:g.160061927C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1194Pro	rs544201211	missense variant	-	NC_000006.12:g.160061926T>C	TOPMed,gnomAD
IGF2R	P11717	p.Ser1196Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160062536C>T	NCI-TCGA
IGF2R	P11717	p.Phe1199Leu	rs766245947	missense variant	-	NC_000006.12:g.160062544T>C	ExAC,gnomAD
IGF2R	P11717	p.Gln1200His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160062549G>T	NCI-TCGA
IGF2R	P11717	p.Gln1200Pro	rs777040479	missense variant	-	NC_000006.12:g.160062548A>C	ExAC,gnomAD
IGF2R	P11717	p.Leu1201Phe	rs759698621	missense variant	-	NC_000006.12:g.160062550C>T	ExAC,gnomAD
IGF2R	P11717	p.Asp1203Asn	rs1231990796	missense variant	-	NC_000006.12:g.160062556G>A	gnomAD
IGF2R	P11717	p.Asp1203Gly	rs765434702	missense variant	-	NC_000006.12:g.160062557A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr1207Ser	rs1338959346	missense variant	-	NC_000006.12:g.160062569A>C	gnomAD
IGF2R	P11717	p.Tyr1207His	rs1396885092	missense variant	-	NC_000006.12:g.160062568T>C	gnomAD
IGF2R	P11717	p.Val1208Met	rs758491772	missense variant	-	NC_000006.12:g.160062571G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1208Met	rs758491772	missense variant	-	NC_000006.12:g.160062571G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Arg1212Thr	rs1344322571	missense variant	-	NC_000006.12:g.160062584G>C	TOPMed
IGF2R	P11717	p.Thr1213Ser	rs757672047	missense variant	-	NC_000006.12:g.160062587C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1214Leu	rs1335525047	missense variant	-	NC_000006.12:g.160062589G>C	TOPMed,gnomAD
IGF2R	P11717	p.Val1214Met	rs1335525047	missense variant	-	NC_000006.12:g.160062589G>A	TOPMed,gnomAD
IGF2R	P11717	p.Glu1215Asp	rs1205109321	missense variant	-	NC_000006.12:g.160062594A>T	TOPMed,gnomAD
IGF2R	P11717	p.Glu1215Lys	rs1345268573	missense variant	-	NC_000006.12:g.160062592G>A	gnomAD
IGF2R	P11717	p.Ala1216Thr	rs746205935	missense variant	-	NC_000006.12:g.160062595G>A	ExAC,gnomAD
IGF2R	P11717	p.Ala1216Gly	rs1309037837	missense variant	-	NC_000006.12:g.160062596C>G	TOPMed
IGF2R	P11717	p.Cys1217Phe	COSM3860128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160062599G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Val1219Ile	rs368061810	missense variant	-	NC_000006.12:g.160062604G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1223Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160062618A>T	NCI-TCGA
IGF2R	P11717	p.Asp1225Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160063418A>T	NCI-TCGA
IGF2R	P11717	p.Asp1225Tyr	COSM6173005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160063417G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Asn1226Asp	rs1298066969	missense variant	-	NC_000006.12:g.160063420A>G	gnomAD
IGF2R	P11717	p.Asn1226Ser	rs142862020	missense variant	-	NC_000006.12:g.160063421A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1228Lys	rs1407127687	missense variant	-	NC_000006.12:g.160063426G>A	gnomAD
IGF2R	P11717	p.Val1229Met	rs1185688501	missense variant	-	NC_000006.12:g.160063429G>A	gnomAD
IGF2R	P11717	p.Asp1231Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160063437C>G	NCI-TCGA
IGF2R	P11717	p.Pro1232Thr	rs1424362804	missense variant	-	NC_000006.12:g.160063438C>A	gnomAD
IGF2R	P11717	p.Arg1233Lys	rs140292951	missense variant	-	NC_000006.12:g.160063442G>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.His1234Arg	rs769601265	missense variant	-	NC_000006.12:g.160063445A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His1234Tyr	rs1374442835	missense variant	-	NC_000006.12:g.160063444C>T	TOPMed
IGF2R	P11717	p.Gly1235Asp	rs763188815	missense variant	-	NC_000006.12:g.160063448G>A	NCI-TCGA
IGF2R	P11717	p.Gly1235Asp	rs763188815	missense variant	-	NC_000006.12:g.160063448G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1236Ser	rs768828328	missense variant	-	NC_000006.12:g.160063451A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu1240Val	rs146994109	missense variant	-	NC_000006.12:g.160063462C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1242Arg	rs1187265190	missense variant	-	NC_000006.12:g.160063469C>G	gnomAD
IGF2R	P11717	p.Gly1244Asp	rs1237489276	missense variant	-	NC_000006.12:g.160063475G>A	TOPMed
IGF2R	P11717	p.Gly1244Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160063474G>A	NCI-TCGA
IGF2R	P11717	p.Gly1244Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160063474G>T	NCI-TCGA
IGF2R	P11717	p.Leu1245Phe	rs767964612	missense variant	-	NC_000006.12:g.160063477C>T	ExAC,gnomAD
IGF2R	P11717	p.Asn1246Ser	rs77420768	missense variant	-	NC_000006.12:g.160063481A>G	ExAC,gnomAD
IGF2R	P11717	p.Asp1247Asn	COSM1075598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160063483G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Thr1248Ser	rs1301666918	missense variant	-	NC_000006.12:g.160063487C>G	gnomAD
IGF2R	P11717	p.Thr1248Ala	rs1427184802	missense variant	-	NC_000006.12:g.160063486A>G	TOPMed,gnomAD
IGF2R	P11717	p.Ile1249Thr	rs766743203	missense variant	-	NC_000006.12:g.160063490T>C	ExAC,gnomAD
IGF2R	P11717	p.Val1250Met	rs781193290	missense variant	-	NC_000006.12:g.160063492G>A	TOPMed,gnomAD
IGF2R	P11717	p.Ala1252Thr	rs368189343	missense variant	-	NC_000006.12:g.160063498G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1254Lys	rs1361486626	missense variant	-	NC_000006.12:g.160063504G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Glu1254Lys	rs1361486626	missense variant	-	NC_000006.12:g.160063504G>A	gnomAD
IGF2R	P11717	p.Tyr1255Cys	rs1243604829	missense variant	-	NC_000006.12:g.160063508A>G	gnomAD
IGF2R	P11717	p.Thr1256Ala	rs1372451286	missense variant	-	NC_000006.12:g.160063510A>G	TOPMed
IGF2R	P11717	p.Thr1256Ser	rs1331190876	missense variant	-	NC_000006.12:g.160063511C>G	TOPMed
IGF2R	P11717	p.Tyr1257Phe	rs1290953686	missense variant	-	NC_000006.12:g.160063514A>T	gnomAD
IGF2R	P11717	p.Tyr1258His	rs756824927	missense variant	-	NC_000006.12:g.160063516T>C	ExAC
IGF2R	P11717	p.Phe1259Tyr	rs1397954651	missense variant	-	NC_000006.12:g.160063520T>A	TOPMed
IGF2R	P11717	p.Phe1259Leu	rs1443955763	missense variant	-	NC_000006.12:g.160063519T>C	TOPMed
IGF2R	P11717	p.Arg1260Trp	rs1217705895	missense variant	-	NC_000006.12:g.160063522C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Arg1260Trp	rs1217705895	missense variant	-	NC_000006.12:g.160063522C>T	gnomAD
IGF2R	P11717	p.Arg1260Gln	rs142223284	missense variant	-	NC_000006.12:g.160063523G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1261Ala	rs1485040402	missense variant	-	NC_000006.12:g.160063526T>C	gnomAD
IGF2R	P11717	p.Gly1263Glu	rs138144909	missense variant	-	NC_000006.12:g.160063532G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys1264Glu	rs779935538	missense variant	-	NC_000006.12:g.160063534A>G	ExAC,gnomAD
IGF2R	P11717	p.Lys1264Asn	rs1175353362	missense variant	-	NC_000006.12:g.160063536G>C	TOPMed
IGF2R	P11717	p.Lys1264Arg	rs375156596	missense variant	-	NC_000006.12:g.160063535A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1267Ala	rs1161780508	missense variant	-	NC_000006.12:g.160063543T>G	gnomAD
IGF2R	P11717	p.Asp1268Val	COSM3860129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160063547A>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Val1269Ile	rs1336997192	missense variant	-	NC_000006.12:g.160063549G>A	TOPMed,gnomAD
IGF2R	P11717	p.Val1269Ile	rs1336997192	missense variant	-	NC_000006.12:g.160063549G>A	NCI-TCGA
IGF2R	P11717	p.Thr1272Ala	rs773639789	missense variant	-	NC_000006.12:g.160063558A>G	ExAC,gnomAD
IGF2R	P11717	p.Thr1272Ile	rs761265344	missense variant	-	NC_000006.12:g.160063559C>T	ExAC,gnomAD
IGF2R	P11717	p.Lys1277Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160063575G>T	NCI-TCGA
IGF2R	P11717	p.Lys1277Met	rs528019616	missense variant	-	NC_000006.12:g.160063574A>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Glu1284Lys	rs1208288080	missense variant	-	NC_000006.12:g.160063594G>A	gnomAD
IGF2R	P11717	p.Arg1286Pro	rs547669372	missense variant	-	NC_000006.12:g.160063601G>C	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Arg1286Trp	rs1462668024	missense variant	-	NC_000006.12:g.160063600C>T	gnomAD
IGF2R	P11717	p.Arg1286Trp	rs1462668024	missense variant	-	NC_000006.12:g.160063600C>T	NCI-TCGA
IGF2R	P11717	p.Arg1286Gln	rs547669372	missense variant	-	NC_000006.12:g.160063601G>A	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Glu1287Gly	rs1179305800	missense variant	-	NC_000006.12:g.160063604A>G	gnomAD
IGF2R	P11717	p.Glu1287Gln	rs1470836514	missense variant	-	NC_000006.12:g.160063603G>C	gnomAD
IGF2R	P11717	p.Pro1288Leu	rs751227852	missense variant	-	NC_000006.12:g.160063607C>T	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Pro1288Leu	rs751227852	missense variant	-	NC_000006.12:g.160063607C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln1289Arg	rs749863347	missense variant	-	NC_000006.12:g.160063610A>G	ExAC,gnomAD
IGF2R	P11717	p.Gly1290Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160063613G>A	NCI-TCGA
IGF2R	P11717	p.His1292Arg	rs756086081	missense variant	-	NC_000006.12:g.160063619A>G	ExAC,gnomAD
IGF2R	P11717	p.Lys1293Arg	rs945091949	missense variant	-	NC_000006.12:g.160063622A>G	gnomAD
IGF2R	P11717	p.Lys1293Gln	rs1237470492	missense variant	-	NC_000006.12:g.160063621A>C	TOPMed
IGF2R	P11717	p.Ala1295Ser	rs779801468	missense variant	-	NC_000006.12:g.160063627G>T	ExAC,gnomAD
IGF2R	P11717	p.Ala1295Thr	COSM1075600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160063627G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Leu1297Phe	rs568135607	missense variant	-	NC_000006.12:g.160064403C>T	1000Genomes
IGF2R	P11717	p.Lys1301Arg	rs1221850141	missense variant	-	NC_000006.12:g.160064416A>G	gnomAD
IGF2R	P11717	p.Glu1305Gly	rs778701526	missense variant	-	NC_000006.12:g.160064428A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu1308Phe	rs533788570	missense variant	-	NC_000006.12:g.160064438G>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Leu1309Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160064441A>T	NCI-TCGA
IGF2R	P11717	p.Met1311Val	rs1223684203	missense variant	-	NC_000006.12:g.160064445A>G	gnomAD
IGF2R	P11717	p.Met1311Thr	rs1027077738	missense variant	-	NC_000006.12:g.160064446T>C	TOPMed
IGF2R	P11717	p.Thr1314Met	rs888095015	missense variant	-	NC_000006.12:g.160064455C>T	TOPMed
IGF2R	P11717	p.Gly1315Arg	rs960227930	missense variant	-	NC_000006.12:g.160064457G>A	TOPMed,gnomAD
IGF2R	P11717	p.Gly1315Val	rs8191859	missense variant	-	NC_000006.12:g.160064458G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1315Arg	rs960227930	missense variant	-	NC_000006.12:g.160064457G>C	TOPMed,gnomAD
IGF2R	P11717	p.Gly1315Ala	rs8191859	missense variant	-	NC_000006.12:g.160064458G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1315Glu	rs8191859	missense variant	-	NC_000006.12:g.160064458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1317ThrPheSerTerUnkUnk	rs760021495	frameshift	-	NC_000006.12:g.160064456G>-	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Asp1317Gly	rs556127202	missense variant	-	NC_000006.12:g.160064464A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Asp1317His	rs1176676050	missense variant	-	NC_000006.12:g.160064463G>C	TOPMed
IGF2R	P11717	p.Asp1317GlyPheSerTerUnk	rs777173791	frameshift	-	NC_000006.12:g.160064455_160064456insG	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Thr1318Asn	rs763173606	missense variant	-	NC_000006.12:g.160064467C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1318Ala	rs776004608	missense variant	-	NC_000006.12:g.160064466A>G	ExAC,gnomAD
IGF2R	P11717	p.Thr1318Ile	rs763173606	missense variant	-	NC_000006.12:g.160064467C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His1320Arg	rs1165407781	missense variant	-	NC_000006.12:g.160064473A>G	TOPMed,gnomAD
IGF2R	P11717	p.His1320Tyr	rs149254379	missense variant	-	NC_000006.12:g.160064472C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys1321Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160064477G>T	NCI-TCGA
IGF2R	P11717	p.Val1322Phe	rs1363410387	missense variant	-	NC_000006.12:g.160064478G>T	gnomAD
IGF2R	P11717	p.Arg1325His	rs751103307	missense variant	-	NC_000006.12:g.160064488G>A	NCI-TCGA
IGF2R	P11717	p.Arg1325Cys	rs1450812761	missense variant	-	NC_000006.12:g.160064487C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Arg1325Cys	rs1450812761	missense variant	-	NC_000006.12:g.160064487C>T	gnomAD
IGF2R	P11717	p.Arg1325His	rs751103307	missense variant	-	NC_000006.12:g.160064488G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1326Thr	rs978813746	missense variant	-	NC_000006.12:g.160064490T>A	TOPMed
IGF2R	P11717	p.Thr1327Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160064493A>G	NCI-TCGA
IGF2R	P11717	p.Ala1328Thr	rs753293718	missense variant	-	NC_000006.12:g.160064496G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1328Val	rs369916399	missense variant	-	NC_000006.12:g.160064497C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile1329Met	rs1375085118	missense variant	-	NC_000006.12:g.160064501C>G	TOPMed
IGF2R	P11717	p.Ile1329Thr	rs1233866654	missense variant	-	NC_000006.12:g.160064500T>C	gnomAD
IGF2R	P11717	p.Ile1329Val	rs1345915194	missense variant	-	NC_000006.12:g.160064499A>G	gnomAD
IGF2R	P11717	p.Phe1330Ile	rs752549366	missense variant	-	NC_000006.12:g.160064502T>A	ExAC,gnomAD
IGF2R	P11717	p.Phe1331Tyr	rs1357695934	missense variant	-	NC_000006.12:g.160064506T>A	TOPMed,gnomAD
IGF2R	P11717	p.Asp1334Glu	COSM6173004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160064516C>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Arg1335His	rs8191860	missense variant	-	NC_000006.12:g.160064518G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1335Cys	rs144472377	missense variant	-	NC_000006.12:g.160064517C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1335Ser	rs144472377	missense variant	-	NC_000006.12:g.160064517C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1336Ser	rs751709999	missense variant	-	NC_000006.12:g.160064520G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1339Gln	rs1444720239	missense variant	-	NC_000006.12:g.160064530G>A	TOPMed,gnomAD
IGF2R	P11717	p.Arg1339Trp	rs370872105	missense variant	-	NC_000006.12:g.160064529C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1339Leu	rs1444720239	missense variant	-	NC_000006.12:g.160064530G>T	TOPMed,gnomAD
IGF2R	P11717	p.Pro1340Leu	COSM4843179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160064805C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Val1341Ile	rs571049189	missense variant	-	NC_000006.12:g.160064807G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe1342Leu	rs201662519	missense variant	-	NC_000006.12:g.160064812T>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys1344Arg	rs965276522	missense variant	-	NC_000006.12:g.160064817A>G	TOPMed
IGF2R	P11717	p.Thr1346Ser	rs762831602	missense variant	-	NC_000006.12:g.160064822A>T	ExAC,gnomAD
IGF2R	P11717	p.Asp1348Gly	rs780962088	missense variant	-	NC_000006.12:g.160064829A>G	TOPMed
IGF2R	P11717	p.Asp1348Asn	rs764026914	missense variant	-	NC_000006.12:g.160064828G>A	ExAC,gnomAD
IGF2R	P11717	p.Ser1350Cys	rs774033988	missense variant	-	NC_000006.12:g.160064835C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1350Ala	rs1196240910	missense variant	-	NC_000006.12:g.160064834T>G	gnomAD
IGF2R	P11717	p.Tyr1351His	rs1417037057	missense variant	-	NC_000006.12:g.160064837T>C	gnomAD
IGF2R	P11717	p.Tyr1351Cys	rs761689625	missense variant	-	NC_000006.12:g.160064838A>G	ExAC,gnomAD
IGF2R	P11717	p.Tyr1351Ser	rs761689625	missense variant	-	NC_000006.12:g.160064838A>C	ExAC,gnomAD
IGF2R	P11717	p.Leu1352Phe	rs1406224864	missense variant	-	NC_000006.12:g.160064842G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Leu1352Phe	rs1406224864	missense variant	-	NC_000006.12:g.160064842G>C	TOPMed
IGF2R	P11717	p.Arg1356Ter	rs750646803	stop gained	-	NC_000006.12:g.160064852C>T	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Arg1356Ter	rs750646803	stop gained	-	NC_000006.12:g.160064852C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1356Gln	rs756307482	missense variant	-	NC_000006.12:g.160064853G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1356Gln	rs756307482	missense variant	-	NC_000006.12:g.160064853G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Thr1357Met	rs766388482	missense variant	-	NC_000006.12:g.160064856C>T	ExAC,gnomAD
IGF2R	P11717	p.Gln1358Pro	rs1299192912	missense variant	-	NC_000006.12:g.160064859A>C	gnomAD
IGF2R	P11717	p.Tyr1359Phe	rs755443048	missense variant	-	NC_000006.12:g.160064862A>T	ExAC,gnomAD
IGF2R	P11717	p.Ala1360Ser	rs779416311	missense variant	-	NC_000006.12:g.160064864G>T	ExAC,gnomAD
IGF2R	P11717	p.Pro1363Ser	rs1193511401	missense variant	-	NC_000006.12:g.160064873C>T	TOPMed
IGF2R	P11717	p.Pro1363Arg	rs1307882499	missense variant	-	NC_000006.12:g.160064874C>G	gnomAD
IGF2R	P11717	p.Phe1364Leu	rs368320741	missense variant	-	NC_000006.12:g.160064878C>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1365Gly	rs146110381	missense variant	-	NC_000006.12:g.160064880A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1365Asn	rs780871638	missense variant	-	NC_000006.12:g.160064879G>A	ExAC,gnomAD
IGF2R	P11717	p.Asp1365Asn	rs780871638	missense variant	-	NC_000006.12:g.160064879G>A	NCI-TCGA
IGF2R	P11717	p.Phe1371Cys	COSM3430313	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160064898T>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Lys1372Arg	rs1227553153	missense variant	-	NC_000006.12:g.160064901A>G	TOPMed,gnomAD
IGF2R	P11717	p.Asp1373His	rs1227485481	missense variant	-	NC_000006.12:g.160068250G>C	gnomAD
IGF2R	P11717	p.Gly1374Glu	rs201271105	missense variant	-	NC_000006.12:g.160068254G>A	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Ser1378Thr	rs1220036536	missense variant	-	NC_000006.12:g.160068265T>A	gnomAD
IGF2R	P11717	p.Phe1379Leu	rs747309221	missense variant	-	NC_000006.12:g.160068270C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1380Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160068272A>T	NCI-TCGA
IGF2R	P11717	p.Leu1381Phe	rs1355959103	missense variant	-	NC_000006.12:g.160068274C>T	TOPMed
IGF2R	P11717	p.Leu1384Met	rs200710526	missense variant	-	NC_000006.12:g.160068283C>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1388Gly	rs374448811	missense variant	-	NC_000006.12:g.160068295A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1388Arg	rs374448811	missense variant	-	NC_000006.12:g.160068295A>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1389Glu	rs1426925699	missense variant	-	NC_000006.12:g.160068300C>A	gnomAD
IGF2R	P11717	p.Thr1395Ile	rs1453941096	missense variant	-	NC_000006.12:g.160068317C>T	TOPMed,gnomAD
IGF2R	P11717	p.Thr1395Ser	rs2230048	missense variant	-	NC_000006.12:g.160068316A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1396Val	rs146402810	missense variant	-	NC_000006.12:g.160068320G>T	ESP,ExAC,TOPMed
IGF2R	P11717	p.Thr1397Met	rs139241313	missense variant	-	NC_000006.12:g.160068323C>T	ESP,TOPMed,gnomAD
IGF2R	P11717	p.Asp1399Asn	rs760458051	missense variant	-	NC_000006.12:g.160068328G>A	ExAC,gnomAD
IGF2R	P11717	p.Pro1400Leu	rs1384967666	missense variant	-	NC_000006.12:g.160068332C>T	TOPMed,gnomAD
IGF2R	P11717	p.His1402Tyr	rs759574127	missense variant	-	NC_000006.12:g.160068337C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr1403Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160068341A>G	NCI-TCGA
IGF2R	P11717	p.Tyr1403Asn	rs1168254135	missense variant	-	NC_000006.12:g.160068340T>A	TOPMed
IGF2R	P11717	p.Asn1406Ser	rs1027439127	missense variant	-	NC_000006.12:g.160068350A>G	TOPMed,gnomAD
IGF2R	P11717	p.Val1407Ile	rs1349706700	missense variant	-	NC_000006.12:g.160068352G>A	gnomAD
IGF2R	P11717	p.Leu1411Pro	rs1290192322	missense variant	-	NC_000006.12:g.160068365T>C	gnomAD
IGF2R	P11717	p.Ala1412Thr	rs752735552	missense variant	-	NC_000006.12:g.160068367G>A	ExAC,gnomAD
IGF2R	P11717	p.Ala1412Asp	rs763456656	missense variant	-	NC_000006.12:g.160068368C>A	ExAC,gnomAD
IGF2R	P11717	p.Pro1413ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160068368C>-	NCI-TCGA
IGF2R	P11717	p.Pro1413Ser	rs751981139	missense variant	-	NC_000006.12:g.160068370C>T	ExAC,gnomAD
IGF2R	P11717	p.Pro1413Leu	rs757640649	missense variant	-	NC_000006.12:g.160068371C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1415Asp	rs754534312	missense variant	-	NC_000006.12:g.160068377C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1417Pro	rs778593094	missense variant	-	NC_000006.12:g.160068382A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1417Ser	rs1386053094	missense variant	-	NC_000006.12:g.160068383C>G	gnomAD
IGF2R	P11717	p.Pro1419Leu	rs1199631386	missense variant	-	NC_000006.12:g.160069871C>T	TOPMed,gnomAD
IGF2R	P11717	p.Pro1419Thr	rs745592216	missense variant	-	NC_000006.12:g.160069870C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1419Ser	rs745592216	missense variant	-	NC_000006.12:g.160069870C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1421Arg	rs775688111	missense variant	-	NC_000006.12:g.160069877C>G	ExAC
IGF2R	P11717	p.Ala1424Val	rs1171533792	missense variant	-	NC_000006.12:g.160069886C>T	gnomAD
IGF2R	P11717	p.Ala1424Ser	rs1476737084	missense variant	-	NC_000006.12:g.160069885G>T	gnomAD
IGF2R	P11717	p.Ala1426Thr	rs1271906368	missense variant	-	NC_000006.12:g.160069891G>A	TOPMed,gnomAD
IGF2R	P11717	p.Ala1426Val	rs768703570	missense variant	-	NC_000006.12:g.160069892C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys1427Ser	rs1207688189	missense variant	-	NC_000006.12:g.160069894T>A	TOPMed,gnomAD
IGF2R	P11717	p.Gly1430Ser	rs980160088	missense variant	-	NC_000006.12:g.160069903G>A	TOPMed
IGF2R	P11717	p.Ser1432Phe	rs1255851521	missense variant	-	NC_000006.12:g.160069910C>T	gnomAD
IGF2R	P11717	p.Pro1434Leu	rs773636221	missense variant	-	NC_000006.12:g.160069916C>T	ExAC,gnomAD
IGF2R	P11717	p.Val1435Met	rs1046637555	missense variant	-	NC_000006.12:g.160069918G>A	TOPMed,gnomAD
IGF2R	P11717	p.Val1435Leu	rs1046637555	missense variant	-	NC_000006.12:g.160069918G>T	TOPMed,gnomAD
IGF2R	P11717	p.Val1435Leu	rs1046637555	missense variant	-	NC_000006.12:g.160069918G>C	TOPMed,gnomAD
IGF2R	P11717	p.Val1440Gly	rs758030266	missense variant	-	NC_000006.12:g.160069934T>G	ExAC,gnomAD
IGF2R	P11717	p.Arg1441Ser	rs763719977	missense variant	-	NC_000006.12:g.160069938G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1442Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160069939G>A	NCI-TCGA
IGF2R	P11717	p.Gly1443Arg	rs757233434	missense variant	-	NC_000006.12:g.160069942G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1443Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160069943G>A	NCI-TCGA
IGF2R	P11717	p.Pro1444Ser	rs1449569270	missense variant	-	NC_000006.12:g.160069945C>T	gnomAD
IGF2R	P11717	p.Pro1444Leu	rs1197540560	missense variant	-	NC_000006.12:g.160069946C>T	gnomAD
IGF2R	P11717	p.Trp1446Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160069953G>C	NCI-TCGA
IGF2R	P11717	p.Gly1449Val	rs121434587	missense variant	-	NC_000006.12:g.160069961G>T	-
IGF2R	P11717	p.Ile1450Val	rs745743992	missense variant	-	NC_000006.12:g.160069963A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile1451Val	rs755875624	missense variant	-	NC_000006.12:g.160069966A>G	ExAC,gnomAD
IGF2R	P11717	p.Leu1453Gln	COSM741318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160069973T>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Tyr1455Ter	rs780307175	stop gained	-	NC_000006.12:g.160069980C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr1455Cys	rs749614048	missense variant	-	NC_000006.12:g.160069979A>G	gnomAD
IGF2R	P11717	p.Tyr1455Phe	rs749614048	missense variant	-	NC_000006.12:g.160069979A>T	gnomAD
IGF2R	P11717	p.Val1456Ile	rs1315578100	missense variant	-	NC_000006.12:g.160069981G>A	TOPMed
IGF2R	P11717	p.Val1456Ala	rs749530351	missense variant	-	NC_000006.12:g.160069982T>C	ExAC,gnomAD
IGF2R	P11717	p.Asp1457Gly	rs1033601474	missense variant	-	NC_000006.12:g.160069985A>G	TOPMed
IGF2R	P11717	p.Asp1459Asn	rs774498478	missense variant	-	NC_000006.12:g.160069990G>A	ExAC,gnomAD
IGF2R	P11717	p.Cys1461Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160069997G>A	NCI-TCGA
IGF2R	P11717	p.Pro1462Ser	rs772696471	missense variant	-	NC_000006.12:g.160069999C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1462Ala	rs772696471	missense variant	-	NC_000006.12:g.160069999C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1463Gly	rs761164003	missense variant	-	NC_000006.12:g.160070003A>G	ExAC,gnomAD
IGF2R	P11717	p.Gly1464Glu	rs121434588	missense variant	-	NC_000006.12:g.160070006G>A	-
IGF2R	P11717	p.Arg1466Trp	rs375281736	missense variant	-	NC_000006.12:g.160070011C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1466Gln	rs368697729	missense variant	-	NC_000006.12:g.160070012G>A	1000Genomes,ESP,ExAC,gnomAD
IGF2R	P11717	p.Ser1469Leu	rs763595868	missense variant	-	NC_000006.12:g.160070021C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1470Ala	rs1010570643	missense variant	-	NC_000006.12:g.160070023A>G	TOPMed,gnomAD
IGF2R	P11717	p.Ile1472Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160070031C>G	NCI-TCGA
IGF2R	P11717	p.Ile1472Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160070029A>G	NCI-TCGA
IGF2R	P11717	p.Arg1473Gln	rs756715139	missense variant	-	NC_000006.12:g.160070033G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1473Ter	COSM4934839	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160070032C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Arg1473Leu	rs756715139	missense variant	-	NC_000006.12:g.160070033G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe1474Leu	rs1206340507	missense variant	-	NC_000006.12:g.160070035T>C	TOPMed,gnomAD
IGF2R	P11717	p.Phe1474Ile	rs1206340507	missense variant	-	NC_000006.12:g.160070035T>A	TOPMed,gnomAD
IGF2R	P11717	p.Ser1477Asn	rs1476228710	missense variant	-	NC_000006.12:g.160070045G>A	TOPMed
IGF2R	P11717	p.Glu1478Lys	rs371705752	missense variant	-	NC_000006.12:g.160070047G>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Ser1483Phe	rs777746756	missense variant	-	NC_000006.12:g.160071914C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1484Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160071918G>T	NCI-TCGA
IGF2R	P11717	p.Met1486Leu	rs142184569	missense variant	-	NC_000006.12:g.160071922A>T	ESP,ExAC,gnomAD
IGF2R	P11717	p.Met1486Val	rs142184569	missense variant	-	NC_000006.12:g.160071922A>G	ESP,ExAC,gnomAD
IGF2R	P11717	p.Ile1488Leu	rs781763134	missense variant	-	NC_000006.12:g.160071928A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile1488Val	rs781763134	missense variant	-	NC_000006.12:g.160071928A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1489Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160071931A>C	NCI-TCGA
IGF2R	P11717	p.Ala1490Thr	rs770030458	missense variant	-	NC_000006.12:g.160071934G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1491Met	rs761398978	missense variant	-	NC_000006.12:g.160071937G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1495Asp	rs1281284484	missense variant	-	NC_000006.12:g.160071951G>T	gnomAD
IGF2R	P11717	p.Thr1497Ala	rs1305157875	missense variant	-	NC_000006.12:g.160071955A>G	TOPMed
IGF2R	P11717	p.Trp1500Ter	COSM1075604	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160071966G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Pro1501His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160071968C>A	NCI-TCGA
IGF2R	P11717	p.Pro1501Arg	rs1178400877	missense variant	-	NC_000006.12:g.160071968C>G	TOPMed,gnomAD
IGF2R	P11717	p.Pro1501Ser	rs1466975574	missense variant	-	NC_000006.12:g.160071967C>T	TOPMed
IGF2R	P11717	p.Pro1501Leu	rs1178400877	missense variant	-	NC_000006.12:g.160071968C>T	TOPMed,gnomAD
IGF2R	P11717	p.Thr1504Ile	rs77999960	missense variant	-	NC_000006.12:g.160071977C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1504Pro	rs772725738	missense variant	-	NC_000006.12:g.160071976A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1511Lys	rs759426249	missense variant	-	NC_000006.12:g.160071999C>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1511Ser	rs184364191	missense variant	-	NC_000006.12:g.160071998A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Glu1512Gly	rs1201008829	missense variant	-	NC_000006.12:g.160072001A>G	TOPMed
IGF2R	P11717	p.His1513Arg	rs752498022	missense variant	-	NC_000006.12:g.160072004A>G	ExAC,gnomAD
IGF2R	P11717	p.Asp1514Ala	rs17847647	missense variant	-	NC_000006.12:g.160072007A>C	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1514Gly	rs17847647	missense variant	-	NC_000006.12:g.160072007A>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1514His	rs151229775	missense variant	-	NC_000006.12:g.160072006G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1514Asn	rs151229775	missense variant	-	NC_000006.12:g.160072006G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1518Leu	rs751755621	missense variant	-	NC_000006.12:g.160072018G>C	ExAC,gnomAD
IGF2R	P11717	p.Thr1519Ala	rs757379767	missense variant	-	NC_000006.12:g.160072021A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1528Val	rs1234372812	missense variant	-	NC_000006.12:g.160072777A>T	TOPMed,gnomAD
IGF2R	P11717	p.Leu1529Met	rs1480446547	missense variant	-	NC_000006.12:g.160072779C>A	TOPMed
IGF2R	P11717	p.Ser1530Thr	rs948610594	missense variant	-	NC_000006.12:g.160072783G>C	TOPMed
IGF2R	P11717	p.Leu1532Val	rs769686308	missense variant	-	NC_000006.12:g.160072788T>G	ExAC,gnomAD
IGF2R	P11717	p.Gly1534Val	rs140091632	missense variant	-	NC_000006.12:g.160072795G>T	ESP,TOPMed,gnomAD
IGF2R	P11717	p.Ala1536Val	rs775466071	missense variant	-	NC_000006.12:g.160072801C>T	ExAC,gnomAD
IGF2R	P11717	p.Ala1536Gly	rs775466071	missense variant	-	NC_000006.12:g.160072801C>G	ExAC,gnomAD
IGF2R	P11717	p.Phe1538Tyr	rs762128793	missense variant	-	NC_000006.12:g.160072807T>A	ExAC,gnomAD
IGF2R	P11717	p.Tyr1542Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160072819A>G	NCI-TCGA
IGF2R	P11717	p.Glu1544Lys	rs750522726	missense variant	-	NC_000006.12:g.160072824G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1544Gln	rs750522726	missense variant	-	NC_000006.12:g.160072824G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1544Gly	COSM1075605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160072825A>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Lys1545Arg	rs199789899	missense variant	-	NC_000006.12:g.160072828A>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1548Leu	rs1208592600	missense variant	-	NC_000006.12:g.160072836G>C	gnomAD
IGF2R	P11717	p.Met1550Val	rs137918443	missense variant	-	NC_000006.12:g.160072842A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Met1550Leu	rs137918443	missense variant	-	NC_000006.12:g.160072842A>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile1552Val	rs755432253	missense variant	-	NC_000006.12:g.160072848A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile1552Thr	rs779282645	missense variant	-	NC_000006.12:g.160072849T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys1553Trp	rs752995134	missense variant	-	NC_000006.12:g.160072853T>G	ExAC
IGF2R	P11717	p.Glu1557Lys	rs1472678668	missense variant	-	NC_000006.12:g.160072863G>A	gnomAD
IGF2R	P11717	p.Pro1560Ser	rs756915938	missense variant	-	NC_000006.12:g.160072872C>T	ExAC,gnomAD
IGF2R	P11717	p.Pro1561Ser	rs780885154	missense variant	-	NC_000006.12:g.160072875C>T	ExAC,gnomAD
IGF2R	P11717	p.Val1563Met	rs745408671	missense variant	-	NC_000006.12:g.160072881G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1565Ser	rs765800626	missense variant	-	NC_000006.12:g.160073215G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1565Thr	rs765800626	missense variant	-	NC_000006.12:g.160073215G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln1569Arg	rs933600614	missense variant	-	NC_000006.12:g.160073228A>G	TOPMed,gnomAD
IGF2R	P11717	p.Thr1570Ile	rs1027911466	missense variant	-	NC_000006.12:g.160073231C>T	TOPMed,gnomAD
IGF2R	P11717	p.Arg1571Gly	rs952429467	missense variant	-	NC_000006.12:g.160073233A>G	gnomAD
IGF2R	P11717	p.Arg1571Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073235G>C	NCI-TCGA
IGF2R	P11717	p.Ser1573ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160073240G>-	NCI-TCGA
IGF2R	P11717	p.Val1574Met	rs763401293	missense variant	-	NC_000006.12:g.160073242G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys1576Glu	rs1442583876	missense variant	-	NC_000006.12:g.160073248A>G	TOPMed
IGF2R	P11717	p.Lys1576Asn	rs1369727038	missense variant	-	NC_000006.12:g.160073250G>T	gnomAD
IGF2R	P11717	p.Lys1579Asn	rs1409547711	missense variant	-	NC_000006.12:g.160073259G>C	gnomAD
IGF2R	P11717	p.Tyr1583His	rs1324487606	missense variant	-	NC_000006.12:g.160073269T>C	gnomAD
IGF2R	P11717	p.Val1584Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073273T>C	NCI-TCGA
IGF2R	P11717	p.Val1584Met	rs140858283	missense variant	-	NC_000006.12:g.160073272G>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Leu1590Val	rs754510420	missense variant	-	NC_000006.12:g.160073290C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1591Ala	rs1210012308	missense variant	-	NC_000006.12:g.160073294T>C	gnomAD
IGF2R	P11717	p.Lys1593Arg	rs779046654	missense variant	-	NC_000006.12:g.160073300A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1597Arg	rs777630490	missense variant	-	NC_000006.12:g.160073312C>G	ExAC,gnomAD
IGF2R	P11717	p.Pro1599Leu	rs1186612547	missense variant	-	NC_000006.12:g.160073318C>T	gnomAD
IGF2R	P11717	p.Pro1599Ala	rs1406009345	missense variant	-	NC_000006.12:g.160073317C>G	TOPMed
IGF2R	P11717	p.Ser1600Phe	COSM450836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073321C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Gly1603Ser	rs776830332	missense variant	-	NC_000006.12:g.160073329G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1603Val	rs201529415	missense variant	-	NC_000006.12:g.160073330G>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Gly1603Asp	rs201529415	missense variant	-	NC_000006.12:g.160073330G>A	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Tyr1606Ter	rs1403666241	stop gained	-	NC_000006.12:g.160073339dup	gnomAD
IGF2R	P11717	p.Lys1607Ter	rs1182255207	stop gained	-	NC_000006.12:g.160073341A>T	TOPMed
IGF2R	P11717	p.Ser1608Gly	rs1325386843	missense variant	-	NC_000006.12:g.160073344A>G	gnomAD
IGF2R	P11717	p.Val1613Met	rs375863720	missense variant	-	NC_000006.12:g.160073359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys1614Tyr	COSM1075606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073363G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Glu1617Ter	COSM741317	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160073371G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Arg1619Thr	rs774834122	missense variant	-	NC_000006.12:g.160073378G>C	ExAC,gnomAD
IGF2R	P11717	p.Arg1619Trp	rs629849	missense variant	-	NC_000006.12:g.160073377A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1619Gly	rs629849	missense variant	-	NC_000006.12:g.160073377A>G	UniProt,dbSNP
IGF2R	P11717	p.Arg1619Gly	VAR_021312	missense variant	-	NC_000006.12:g.160073377A>G	UniProt
IGF2R	P11717	p.Arg1619Gly	rs629849	missense variant	-	NC_000006.12:g.160073377A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1622Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073386A>G	NCI-TCGA
IGF2R	P11717	p.Asn1622Ser	rs766092725	missense variant	-	NC_000006.12:g.160073387A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1622Thr	rs766092725	missense variant	-	NC_000006.12:g.160073387A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1623Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073390G>T	NCI-TCGA
IGF2R	P11717	p.Arg1623Lys	COSM3829587	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073390G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Arg1623Trp	rs753522671	missense variant	-	NC_000006.12:g.160073389A>T	ExAC,gnomAD
IGF2R	P11717	p.Met1625Thr	rs1023651528	missense variant	-	NC_000006.12:g.160073396T>C	TOPMed,gnomAD
IGF2R	P11717	p.Leu1626Val	rs1052774805	missense variant	-	NC_000006.12:g.160073398C>G	gnomAD
IGF2R	P11717	p.Ile1627Thr	rs764873654	missense variant	-	NC_000006.12:g.160073402T>C	ExAC,gnomAD
IGF2R	P11717	p.Ser1628Ala	rs879235276	missense variant	-	NC_000006.12:g.160073404T>G	gnomAD
IGF2R	P11717	p.Ser1628Thr	rs879235276	missense variant	-	NC_000006.12:g.160073404T>A	gnomAD
IGF2R	P11717	p.Lys1631Arg	COSM4930523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073414A>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Leu1636Phe	rs1458915239	missense variant	-	NC_000006.12:g.160073428C>T	TOPMed,gnomAD
IGF2R	P11717	p.His1641Tyr	rs200330928	missense variant	-	NC_000006.12:g.160073443C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His1641Pro	rs1336629390	missense variant	-	NC_000006.12:g.160073444A>C	gnomAD
IGF2R	P11717	p.Thr1642Lys	rs369644129	missense variant	-	NC_000006.12:g.160073447C>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Thr1642Met	rs369644129	missense variant	-	NC_000006.12:g.160073447C>T	ESP,ExAC,gnomAD
IGF2R	P11717	p.Pro1643Leu	rs769935757	missense variant	-	NC_000006.12:g.160073450C>T	ExAC,gnomAD
IGF2R	P11717	p.Ala1645Ser	rs1260061444	missense variant	-	NC_000006.12:g.160073455G>T	gnomAD
IGF2R	P11717	p.Ala1645Val	rs1345717154	missense variant	-	NC_000006.12:g.160073456C>T	gnomAD
IGF2R	P11717	p.Cys1646Ter	rs148177604	stop gained	-	NC_000006.12:g.160073460C>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1647Gly	rs1187441899	missense variant	-	NC_000006.12:g.160073462A>G	gnomAD
IGF2R	P11717	p.Glu1647Lys	rs1485233873	missense variant	-	NC_000006.12:g.160073461G>A	gnomAD
IGF2R	P11717	p.Ala1649Val	rs142013128	missense variant	-	NC_000006.12:g.160073468C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1651Lys	rs568872578	missense variant	-	NC_000006.12:g.160073760G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1651Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160073760G>T	NCI-TCGA
IGF2R	P11717	p.Cys1652Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073764G>A	NCI-TCGA
IGF2R	P11717	p.Cys1652Gly	COSM3622481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073763T>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Cys1652Trp	rs1299076768	missense variant	-	NC_000006.12:g.160073765T>G	gnomAD
IGF2R	P11717	p.Val1654Leu	rs773729117	missense variant	-	NC_000006.12:g.160073769G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1654Met	rs773729117	missense variant	-	NC_000006.12:g.160073769G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1656Ile	rs775880546	missense variant	-	NC_000006.12:g.160073776A>T	gnomAD
IGF2R	P11717	p.Asn1656Ser	rs775880546	missense variant	-	NC_000006.12:g.160073776A>G	gnomAD
IGF2R	P11717	p.Gly1657Glu	rs532391090	missense variant	-	NC_000006.12:g.160073779G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1658Arg	rs769637574	missense variant	-	NC_000006.12:g.160073781A>C	ExAC,gnomAD
IGF2R	P11717	p.Ser1659Phe	rs762574894	missense variant	-	NC_000006.12:g.160073785C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1659Ala	rs1211777119	missense variant	-	NC_000006.12:g.160073784T>G	TOPMed,gnomAD
IGF2R	P11717	p.Ser1659Thr	rs1211777119	missense variant	-	NC_000006.12:g.160073784T>A	TOPMed,gnomAD
IGF2R	P11717	p.Ile1660Val	rs369313134	missense variant	-	NC_000006.12:g.160073787A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile1660Leu	rs369313134	missense variant	-	NC_000006.12:g.160073787A>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1661Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073790G>T	NCI-TCGA
IGF2R	P11717	p.Asp1662Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073793G>A	NCI-TCGA
IGF2R	P11717	p.Pro1665Leu	COSM3622482	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073803C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Ile1667Thr	rs1177909205	missense variant	-	NC_000006.12:g.160073809T>C	TOPMed
IGF2R	P11717	p.Ile1667Val	rs968510287	missense variant	-	NC_000006.12:g.160073808A>G	TOPMed
IGF2R	P11717	p.His1668Arg	rs1470028518	missense variant	-	NC_000006.12:g.160073812A>G	TOPMed
IGF2R	P11717	p.Arg1669Cys	rs774207329	missense variant	-	NC_000006.12:g.160073814C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1669Gly	rs774207329	missense variant	-	NC_000006.12:g.160073814C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1669His	rs767428797	missense variant	-	NC_000006.12:g.160073815G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1670Ile	rs1023665073	missense variant	-	NC_000006.12:g.160073818C>T	gnomAD
IGF2R	P11717	p.Gly1672Val	rs755869795	missense variant	-	NC_000006.12:g.160073824G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1672Ser	rs1251242695	missense variant	-	NC_000006.12:g.160073823G>A	TOPMed
IGF2R	P11717	p.Glu1674Gly	rs780301041	missense variant	-	NC_000006.12:g.160073830A>G	ExAC,gnomAD
IGF2R	P11717	p.Asp1677Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073838G>A	NCI-TCGA
IGF2R	P11717	p.Asp1677Gly	rs754033506	missense variant	-	NC_000006.12:g.160073839A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1679Asn	rs1435649032	missense variant	-	NC_000006.12:g.160073845G>A	gnomAD
IGF2R	P11717	p.Asp1681Gly	rs759032483	missense variant	-	NC_000006.12:g.160073851A>G	ExAC,gnomAD
IGF2R	P11717	p.Asp1681His	rs139703298	missense variant	-	NC_000006.12:g.160073850G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1681Tyr	rs139703298	missense variant	-	NC_000006.12:g.160073850G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1682Ala	rs369928098	missense variant	-	NC_000006.12:g.160073854A>C	ExAC,gnomAD
IGF2R	P11717	p.Asp1682Gly	rs369928098	missense variant	-	NC_000006.12:g.160073854A>G	ExAC,gnomAD
IGF2R	P11717	p.Asp1682Val	rs369928098	missense variant	-	NC_000006.12:g.160073854A>T	ExAC,gnomAD
IGF2R	P11717	p.Ser1684Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073860C>T	NCI-TCGA
IGF2R	P11717	p.Asp1685Asn	rs747421150	missense variant	-	NC_000006.12:g.160073862G>A	ExAC,gnomAD
IGF2R	P11717	p.Asn1687His	rs1319097421	missense variant	-	NC_000006.12:g.160073868A>C	TOPMed
IGF2R	P11717	p.Asn1687Ser	rs144685922	missense variant	-	NC_000006.12:g.160073869A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1689Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073875A>T	NCI-TCGA
IGF2R	P11717	p.Phe1690Leu	COSM6173003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160073879C>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Ile1692Val	rs562847817	missense variant	-	NC_000006.12:g.160073883A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Ile1694Val	rs768297167	missense variant	-	NC_000006.12:g.160073889A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln1696Arg	rs11552587	missense variant	-	NC_000006.12:g.160073896A>G	UniProt,dbSNP
IGF2R	P11717	p.Gln1696Arg	VAR_050430	missense variant	-	NC_000006.12:g.160073896A>G	UniProt
IGF2R	P11717	p.Gln1696Arg	rs11552587	missense variant	-	NC_000006.12:g.160073896A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1697Ser	rs767478178	missense variant	-	NC_000006.12:g.160073898C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1700His	rs773108828	missense variant	-	NC_000006.12:g.160073908C>A	ExAC,gnomAD
IGF2R	P11717	p.Met1701Val	rs548541444	missense variant	-	NC_000006.12:g.160073910A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Met1701Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073912G>A	NCI-TCGA
IGF2R	P11717	p.Gly1703Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160073916G>T	NCI-TCGA
IGF2R	P11717	p.Ala1708Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073931G>T	NCI-TCGA
IGF2R	P11717	p.Ala1708Val	rs199662672	missense variant	-	NC_000006.12:g.160073932C>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Gly1709Arg	rs1381095258	missense variant	-	NC_000006.12:g.160073934G>A	TOPMed,gnomAD
IGF2R	P11717	p.Gly1709Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073935G>T	NCI-TCGA
IGF2R	P11717	p.Ala1710Thr	rs185442936	missense variant	-	NC_000006.12:g.160073937G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1711Thr	rs975701822	missense variant	-	NC_000006.12:g.160073940G>A	TOPMed,gnomAD
IGF2R	P11717	p.Cys1713Tyr	rs778474491	missense variant	-	NC_000006.12:g.160073947G>A	ExAC,gnomAD
IGF2R	P11717	p.Lys1714Arg	rs1315730146	missense variant	-	NC_000006.12:g.160073950A>G	gnomAD
IGF2R	P11717	p.Lys1714Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160073950A>T	NCI-TCGA
IGF2R	P11717	p.Lys1714Gln	rs1185511688	missense variant	-	NC_000006.12:g.160073949A>C	TOPMed
IGF2R	P11717	p.Val1715Leu	rs757770622	missense variant	-	NC_000006.12:g.160073952G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile1717Val	rs1484454938	missense variant	-	NC_000006.12:g.160073958A>G	gnomAD
IGF2R	P11717	p.Gly1719Arg	rs370221567	missense variant	-	NC_000006.12:g.160073964G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1719Ser	rs370221567	missense variant	-	NC_000006.12:g.160073964G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1720Ser	rs1472626277	missense variant	-	NC_000006.12:g.160073967C>T	gnomAD
IGF2R	P11717	p.Pro1721Ser	rs921630898	missense variant	-	NC_000006.12:g.160073970C>T	TOPMed
IGF2R	P11717	p.Ile1722Val	rs1052402154	missense variant	-	NC_000006.12:g.160073973A>G	TOPMed,gnomAD
IGF2R	P11717	p.Ile1722Leu	rs1052402154	missense variant	-	NC_000006.12:g.160073973A>C	TOPMed,gnomAD
IGF2R	P11717	p.Ile1722Met	rs375412653	missense variant	-	NC_000006.12:g.160073975A>G	ESP,gnomAD
IGF2R	P11717	p.Asp1723Val	rs1352794128	missense variant	-	NC_000006.12:g.160075848A>T	gnomAD
IGF2R	P11717	p.Arg1726Trp	rs772819799	missense variant	-	NC_000006.12:g.160075856C>T	TOPMed,gnomAD
IGF2R	P11717	p.Arg1726Gln	rs747826639	missense variant	-	NC_000006.12:g.160075857G>A	ExAC,gnomAD
IGF2R	P11717	p.Gly1729Glu	rs771649332	missense variant	-	NC_000006.12:g.160075866G>A	ExAC,gnomAD
IGF2R	P11717	p.Pro1730Leu	rs1303065635	missense variant	-	NC_000006.12:g.160075869C>T	gnomAD
IGF2R	P11717	p.Asn1734Ser	rs770844502	missense variant	-	NC_000006.12:g.160075881A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1735Leu	COSM3622483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160075884C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Glu1739Gln	rs890028236	missense variant	-	NC_000006.12:g.160075895G>C	TOPMed,gnomAD
IGF2R	P11717	p.Tyr1741Cys	rs1364656789	missense variant	-	NC_000006.12:g.160075902A>G	TOPMed,gnomAD
IGF2R	P11717	p.Phe1744Val	rs1436698209	missense variant	-	NC_000006.12:g.160075910T>G	gnomAD
IGF2R	P11717	p.Glu1745Gly	rs776600652	missense variant	-	NC_000006.12:g.160075914A>G	ExAC,gnomAD
IGF2R	P11717	p.Ser1746Asn	rs1254805863	missense variant	-	NC_000006.12:g.160075917G>A	gnomAD
IGF2R	P11717	p.Ser1747Asn	rs1192947570	missense variant	-	NC_000006.12:g.160075920G>A	TOPMed,gnomAD
IGF2R	P11717	p.Ser1747Gly	rs1467026394	missense variant	-	NC_000006.12:g.160075919A>G	gnomAD
IGF2R	P11717	p.Thr1748Asn	rs1390503860	missense variant	-	NC_000006.12:g.160075923C>A	TOPMed,gnomAD
IGF2R	P11717	p.Thr1748Ser	rs1390503860	missense variant	-	NC_000006.12:g.160075923C>G	TOPMed,gnomAD
IGF2R	P11717	p.Thr1748Ile	rs1390503860	missense variant	-	NC_000006.12:g.160075923C>T	TOPMed,gnomAD
IGF2R	P11717	p.Ala1752Val	rs142965315	missense variant	-	NC_000006.12:g.160075935C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys1754Arg	rs763280318	missense variant	-	NC_000006.12:g.160075941A>G	ExAC,gnomAD
IGF2R	P11717	p.His1755Leu	rs1165490257	missense variant	-	NC_000006.12:g.160075944A>T	gnomAD
IGF2R	P11717	p.His1755Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160075943C>T	NCI-TCGA
IGF2R	P11717	p.Phe1756Tyr	rs1159275418	missense variant	-	NC_000006.12:g.160075947T>A	TOPMed
IGF2R	P11717	p.Asn1757Ser	rs760407124	missense variant	-	NC_000006.12:g.160075950A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr1758His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160075952T>C	NCI-TCGA
IGF2R	P11717	p.Ser1760Leu	rs751755752	missense variant	-	NC_000006.12:g.160075959C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile1762Val	rs750958561	missense variant	-	NC_000006.12:g.160075964A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1763Thr	rs780405127	missense variant	-	NC_000006.12:g.160075967G>A	ExAC,gnomAD
IGF2R	P11717	p.Ala1763Val	rs758109180	missense variant	-	NC_000006.12:g.160075968C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1763Ser	rs780405127	missense variant	-	NC_000006.12:g.160075967G>T	ExAC,gnomAD
IGF2R	P11717	p.His1765Arg	rs770452676	missense variant	-	NC_000006.12:g.160075974A>G	ExAC,gnomAD
IGF2R	P11717	p.Lys1767Arg	rs952804845	missense variant	-	NC_000006.12:g.160075980A>G	TOPMed
IGF2R	P11717	p.Lys1767Asn	rs1332059464	missense variant	-	NC_000006.12:g.160075981G>C	gnomAD
IGF2R	P11717	p.Arg1768Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160075983G>A	NCI-TCGA
IGF2R	P11717	p.Arg1768Gly	rs780520893	missense variant	-	NC_000006.12:g.160075982A>G	ExAC,gnomAD
IGF2R	P11717	p.Val1770Met	rs745850167	missense variant	-	NC_000006.12:g.160075988G>A	ExAC,gnomAD
IGF2R	P11717	p.Ser1771Gly	rs769559312	missense variant	-	NC_000006.12:g.160075991A>G	ExAC,gnomAD
IGF2R	P11717	p.Thr1774Ala	rs756446435	missense variant	-	NC_000006.12:g.160078204A>G	gnomAD
IGF2R	P11717	p.Thr1774Met	rs756185232	missense variant	-	NC_000006.12:g.160078205C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1774Ser	rs756446435	missense variant	-	NC_000006.12:g.160078204A>T	gnomAD
IGF2R	P11717	p.Leu1778Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160078216T>G	NCI-TCGA
IGF2R	P11717	p.Ser1781Cys	COSM6105725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160078225A>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Ser1781Asn	rs148892832	missense variant	-	NC_000006.12:g.160078226G>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Glu1782Lys	rs142698228	missense variant	-	NC_000006.12:g.160078228G>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Asp1784Asn	rs1278932398	missense variant	-	NC_000006.12:g.160078234G>A	TOPMed,gnomAD
IGF2R	P11717	p.Val1786Met	rs773403015	missense variant	-	NC_000006.12:g.160078240G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1788Gln	rs760669715	missense variant	-	NC_000006.12:g.160078246G>C	ExAC,gnomAD
IGF2R	P11717	p.Glu1788Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160078246G>A	NCI-TCGA
IGF2R	P11717	p.Thr1791Asn	rs1210449057	missense variant	-	NC_000006.12:g.160078256C>A	gnomAD
IGF2R	P11717	p.Val1794Ile	rs371430710	missense variant	-	NC_000006.12:g.160078264G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1796His	rs754279467	missense variant	-	NC_000006.12:g.160078271C>A	-
IGF2R	P11717	p.Glu1798Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160078276G>T	NCI-TCGA
IGF2R	P11717	p.GluValArgMet1798GluValArgLysTerGlyUnk	rs1363773918	stop gained	-	NC_000006.12:g.160078285_160078286insAGTGAGGA	gnomAD
IGF2R	P11717	p.Glu1798Gln	rs765622731	missense variant	-	NC_000006.12:g.160078276G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1798Gly	rs752939271	missense variant	-	NC_000006.12:g.160078277A>G	ExAC,gnomAD
IGF2R	P11717	p.Val1799Met	rs1287176671	missense variant	-	NC_000006.12:g.160078279G>A	gnomAD
IGF2R	P11717	p.Met1801Ile	rs767070950	missense variant	-	NC_000006.12:g.160078287G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Met1801Ile	rs767070950	missense variant	-	NC_000006.12:g.160078287G>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1802Val	rs749989186	missense variant	-	NC_000006.12:g.160078289A>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1805Ser	rs755664067	missense variant	-	NC_000006.12:g.160078298C>G	ExAC,gnomAD
IGF2R	P11717	p.Thr1807Ile	rs1331680482	missense variant	-	NC_000006.12:g.160078304C>T	TOPMed,gnomAD
IGF2R	P11717	p.Glu1809Lys	rs1300907853	missense variant	-	NC_000006.12:g.160078309G>A	gnomAD
IGF2R	P11717	p.Leu1812Pro	rs772408552	missense variant	-	NC_000006.12:g.160078319T>C	ExAC,gnomAD
IGF2R	P11717	p.Leu1812Phe	rs189986553	missense variant	-	NC_000006.12:g.160078318C>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Tyr1813Cys	rs150924677	missense variant	-	NC_000006.12:g.160078322A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1816Asp	rs747144122	missense variant	-	NC_000006.12:g.160078330A>G	ExAC,gnomAD
IGF2R	P11717	p.Ser1818IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160078335_160078336insAT	NCI-TCGA
IGF2R	P11717	p.Ser1818Phe	rs776652642	missense variant	-	NC_000006.12:g.160078337C>T	ExAC,gnomAD
IGF2R	P11717	p.Ser1819LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160078337_160078338insCAAGGCTCATCTGACCCCTAGGAGTT	NCI-TCGA
IGF2R	P11717	p.Ser1819Arg	rs368727465	missense variant	-	NC_000006.12:g.160078341C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu1820Phe	rs765677611	missense variant	-	NC_000006.12:g.160078342C>T	ExAC,gnomAD
IGF2R	P11717	p.Thr1822Ser	rs775987437	missense variant	-	NC_000006.12:g.160078348A>T	ExAC,gnomAD
IGF2R	P11717	p.Thr1822Met	rs115412888	missense variant	-	NC_000006.12:g.160078349C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1827Leu	COSM1311786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160079580G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Thr1828Ala	rs1387966658	missense variant	-	NC_000006.12:g.160079583A>G	TOPMed,gnomAD
IGF2R	P11717	p.Thr1828Ser	rs1387966658	missense variant	-	NC_000006.12:g.160079583A>T	TOPMed,gnomAD
IGF2R	P11717	p.Arg1829Cys	rs753467612	missense variant	-	NC_000006.12:g.160079586C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1829His	rs765271743	missense variant	-	NC_000006.12:g.160079587G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1829Gly	rs753467612	missense variant	-	NC_000006.12:g.160079586C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1830Asn	rs758315605	missense variant	-	NC_000006.12:g.160079589G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1831Leu	rs200083721	missense variant	-	NC_000006.12:g.160079593C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1832Cys	rs757535144	missense variant	-	NC_000006.12:g.160079595C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1832His	rs8191904	missense variant	-	NC_000006.12:g.160079596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1832His	rs8191904	missense variant	-	NC_000006.12:g.160079596G>A	UniProt,dbSNP
IGF2R	P11717	p.Arg1832His	VAR_021313	missense variant	-	NC_000006.12:g.160079596G>A	UniProt
IGF2R	P11717	p.Val1836Ile	rs140658120	missense variant	-	NC_000006.12:g.160079607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1843Ala	rs545752120	missense variant	-	NC_000006.12:g.160079629T>C	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Gly1844Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160079631G>T	NCI-TCGA
IGF2R	P11717	p.Gly1844Glu	rs1343184710	missense variant	-	NC_000006.12:g.160079632G>A	gnomAD
IGF2R	P11717	p.Gly1844Arg	rs1450392237	missense variant	-	NC_000006.12:g.160079631G>C	TOPMed
IGF2R	P11717	p.Pro1845Thr	rs1407368814	missense variant	-	NC_000006.12:g.160079634C>A	TOPMed
IGF2R	P11717	p.Glu1846Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160079637G>C	NCI-TCGA
IGF2R	P11717	p.Gly1849Ser	rs1456148760	missense variant	-	NC_000006.12:g.160079646G>A	TOPMed
IGF2R	P11717	p.Lys1851Asn	rs770749703	missense variant	-	NC_000006.12:g.160079654G>C	ExAC,gnomAD
IGF2R	P11717	p.Lys1851Glu	rs1328421200	missense variant	-	NC_000006.12:g.160079652A>G	TOPMed,gnomAD
IGF2R	P11717	p.Asp1852Gly	rs1376367964	missense variant	-	NC_000006.12:g.160079656A>G	gnomAD
IGF2R	P11717	p.Ser1859Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160079677C>T	NCI-TCGA
IGF2R	P11717	p.Gly1860Asp	rs8191905	missense variant	-	NC_000006.12:g.160079680G>A	UniProt,dbSNP
IGF2R	P11717	p.Gly1860Asp	VAR_021314	missense variant	-	NC_000006.12:g.160079680G>A	UniProt
IGF2R	P11717	p.Gly1860Asp	rs8191905	missense variant	-	NC_000006.12:g.160079680G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr1861GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160079682_160079689ACCAAGGG>-	NCI-TCGA
IGF2R	P11717	p.Lys1862Arg	rs762813165	missense variant	-	NC_000006.12:g.160079686A>G	ExAC,gnomAD
IGF2R	P11717	p.Ala1864Thr	rs201170949	missense variant	-	NC_000006.12:g.160079691G>A	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Ala1864Ser	rs201170949	missense variant	-	NC_000006.12:g.160079691G>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Ala1864Val	rs751393815	missense variant	-	NC_000006.12:g.160079692C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1868Gln	rs767247253	missense variant	-	NC_000006.12:g.160079704G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1868Trp	rs773104050	missense variant	-	NC_000006.12:g.160079703C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln1870Ter	rs750671616	stop gained	-	NC_000006.12:g.160079709C>T	ExAC,gnomAD
IGF2R	P11717	p.Gln1870His	rs901797122	missense variant	-	NC_000006.12:g.160079711A>T	TOPMed
IGF2R	P11717	p.Asp1875Tyr	rs1466240932	missense variant	-	NC_000006.12:g.160079724G>T	TOPMed
IGF2R	P11717	p.Arg1877Ser	rs756293633	missense variant	-	NC_000006.12:g.160079732G>T	ExAC,gnomAD
IGF2R	P11717	p.Glu1881Gln	COSM1311787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160079742G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Ala1882Val	rs780010061	missense variant	-	NC_000006.12:g.160079746C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1884Ile	rs372315069	missense variant	-	NC_000006.12:g.160079751G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Val1884Ile	rs372315069	missense variant	-	NC_000006.12:g.160079751G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1886Gly	rs562128670	missense variant	-	NC_000006.12:g.160079757A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Val1888Leu	rs374125303	missense variant	-	NC_000006.12:g.160079763G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1888Met	rs374125303	missense variant	-	NC_000006.12:g.160079763G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1888Met	rs374125303	missense variant	-	NC_000006.12:g.160079763G>A	NCI-TCGA,NCI-TCGA Cosmic
IGF2R	P11717	p.Asp1891Asn	rs769433685	missense variant	-	NC_000006.12:g.160079772G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1892His	rs149633151	missense variant	-	NC_000006.12:g.160079776G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1892Leu	rs149633151	missense variant	-	NC_000006.12:g.160079776G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1892Ser	rs774924314	missense variant	-	NC_000006.12:g.160079775C>A	ExAC,gnomAD
IGF2R	P11717	p.Arg1892Cys	rs774924314	missense variant	-	NC_000006.12:g.160079775C>T	NCI-TCGA
IGF2R	P11717	p.Arg1892Cys	rs774924314	missense variant	-	NC_000006.12:g.160079775C>T	ExAC,gnomAD
IGF2R	P11717	p.Pro1895Ala	rs370980819	missense variant	-	NC_000006.12:g.160079784C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1898Asn	rs754114803	missense variant	-	NC_000006.12:g.160080134G>A	ExAC,gnomAD
IGF2R	P11717	p.Gly1900Asp	COSM3622484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160080141G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Gly1900Ser	rs373759284	missense variant	-	NC_000006.12:g.160080140G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1901Ile	rs76130099	missense variant	-	NC_000006.12:g.160080143G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro1902Leu	rs778342736	missense variant	-	NC_000006.12:g.160080147C>T	ExAC,gnomAD
IGF2R	P11717	p.Pro1906Ala	rs1166270506	missense variant	-	NC_000006.12:g.160080158C>G	gnomAD
IGF2R	P11717	p.Ile1908Thr	rs758648214	missense variant	-	NC_000006.12:g.160080165T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile1908Val	rs140022962	missense variant	-	NC_000006.12:g.160080164A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile1908Met	rs8191908	missense variant	-	NC_000006.12:g.160080166A>G	UniProt,dbSNP
IGF2R	P11717	p.Ile1908Met	VAR_021315	missense variant	-	NC_000006.12:g.160080166A>G	UniProt
IGF2R	P11717	p.Ile1908Met	rs8191908	missense variant	-	NC_000006.12:g.160080166A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Phe1909Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160080167T>G	NCI-TCGA
IGF2R	P11717	p.Asn1910Ser	rs768236699	missense variant	-	NC_000006.12:g.160080171A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn1910Asp	rs1350779559	missense variant	-	NC_000006.12:g.160080170A>G	TOPMed
IGF2R	P11717	p.Lys1912Glu	rs1268085517	missense variant	-	NC_000006.12:g.160080176A>G	gnomAD
IGF2R	P11717	p.Ser1913Gly	rs944423333	missense variant	-	NC_000006.12:g.160080179A>G	TOPMed
IGF2R	P11717	p.Ser1913Arg	rs778452376	missense variant	-	NC_000006.12:g.160080181C>G	ExAC,gnomAD
IGF2R	P11717	p.Glu1915Lys	rs772035874	missense variant	-	NC_000006.12:g.160080185G>A	ExAC,gnomAD
IGF2R	P11717	p.Glu1915Gln	rs772035874	missense variant	-	NC_000006.12:g.160080185G>C	ExAC,gnomAD
IGF2R	P11717	p.Glu1916Val	rs1332505016	missense variant	-	NC_000006.12:g.160080189A>T	gnomAD
IGF2R	P11717	p.Cys1917Ser	rs1209179549	missense variant	-	NC_000006.12:g.160080191T>A	gnomAD
IGF2R	P11717	p.Ile1919Thr	rs773177693	missense variant	-	NC_000006.12:g.160080198T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1923Val	rs368781979	missense variant	-	NC_000006.12:g.160080210C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys1927Phe	rs1261375324	missense variant	-	NC_000006.12:g.160080222G>T	gnomAD
IGF2R	P11717	p.Thr1929Lys	rs1162738975	missense variant	-	NC_000006.12:g.160080228C>A	TOPMed
IGF2R	P11717	p.Thr1929Ala	rs770792024	missense variant	-	NC_000006.12:g.160080227A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala1931Val	rs150759811	missense variant	-	NC_000006.12:g.160080234C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1932Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160080236G>T	NCI-TCGA
IGF2R	P11717	p.Asp1932Asn	rs372344925	missense variant	-	NC_000006.12:g.160080236G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr1933Cys	COSM3410750	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160080240A>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Asp1934Asn	rs1386087222	missense variant	-	NC_000006.12:g.160080242G>A	TOPMed,gnomAD
IGF2R	P11717	p.Asp1934His	rs1386087222	missense variant	-	NC_000006.12:g.160080242G>C	TOPMed,gnomAD
IGF2R	P11717	p.His1937Gln	rs375436902	missense variant	-	NC_000006.12:g.160080253C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu1938Gly	rs752136199	missense variant	-	NC_000006.12:g.160080255A>G	ExAC,gnomAD
IGF2R	P11717	p.Glu1938Lys	rs532240139	missense variant	-	NC_000006.12:g.160080254G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1940Asp	rs1415020646	missense variant	-	NC_000006.12:g.160080261G>A	gnomAD
IGF2R	P11717	p.Phe1941Ser	rs1314117559	missense variant	-	NC_000006.12:g.160080264T>C	gnomAD
IGF2R	P11717	p.His1944Pro	rs781627472	missense variant	-	NC_000006.12:g.160080273A>C	ExAC,gnomAD
IGF2R	P11717	p.Ser1945Thr	rs754691366	missense variant	-	NC_000006.12:g.160080275T>A	ExAC,gnomAD
IGF2R	P11717	p.Ser1945Ala	rs754691366	missense variant	-	NC_000006.12:g.160080275T>G	ExAC,gnomAD
IGF2R	P11717	p.Asn1946Asp	rs745709620	missense variant	-	NC_000006.12:g.160083952A>G	ExAC,gnomAD
IGF2R	P11717	p.Tyr1948Phe	rs775356549	missense variant	-	NC_000006.12:g.160083959A>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr1948Cys	rs775356549	missense variant	-	NC_000006.12:g.160083959A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr1948His	rs769740592	missense variant	-	NC_000006.12:g.160083958T>C	ExAC,gnomAD
IGF2R	P11717	p.Arg1949Trp	rs1232823214	missense variant	-	NC_000006.12:g.160083961C>T	TOPMed,gnomAD
IGF2R	P11717	p.Arg1949Gln	rs373029226	missense variant	-	NC_000006.12:g.160083962G>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Arg1949Gly	COSM74982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160083961C>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Ser1951Thr	rs1186334338	missense variant	-	NC_000006.12:g.160083967T>A	TOPMed
IGF2R	P11717	p.Ser1952Ile	rs149952711	missense variant	-	NC_000006.12:g.160083971G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser1952Asn	rs149952711	missense variant	-	NC_000006.12:g.160083971G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile1953Val	rs1217094060	missense variant	-	NC_000006.12:g.160083973A>G	TOPMed
IGF2R	P11717	p.Ile1954Met	COSM1441969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160083978A>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Phe1955Leu	rs773728864	missense variant	-	NC_000006.12:g.160083981T>A	ExAC,gnomAD
IGF2R	P11717	p.Lys1956Asn	rs183027886	missense variant	-	NC_000006.12:g.160083984G>C	1000Genomes,TOPMed,gnomAD
IGF2R	P11717	p.Asp1958Glu	rs761132104	missense variant	-	NC_000006.12:g.160083990T>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp1960Val	rs1234527802	missense variant	-	NC_000006.12:g.160083995A>T	TOPMed
IGF2R	P11717	p.Asp1960Tyr	rs766736217	missense variant	-	NC_000006.12:g.160083994G>T	ExAC
IGF2R	P11717	p.Glu1961Lys	COSM6105724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160083997G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Asp1962Gly	rs1294346995	missense variant	-	NC_000006.12:g.160084001A>G	TOPMed
IGF2R	P11717	p.Ile1963Leu	rs769074376	missense variant	-	NC_000006.12:g.160084003A>C	TOPMed,gnomAD
IGF2R	P11717	p.Ile1963Thr	rs1374266364	missense variant	-	NC_000006.12:g.160084004T>C	gnomAD
IGF2R	P11717	p.Ile1963Met	rs758129169	missense variant	-	NC_000006.12:g.160084005T>G	ExAC,gnomAD
IGF2R	P11717	p.Arg1965Gly	rs1169850723	missense variant	-	NC_000006.12:g.160084009A>G	TOPMed,gnomAD
IGF2R	P11717	p.Gln1967His	rs529803102	missense variant	-	NC_000006.12:g.160084017A>C	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Val1968Ile	rs538340074	missense variant	-	NC_000006.12:g.160084018G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1973His	rs375077970	missense variant	-	NC_000006.12:g.160084034G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg1973Cys	rs780802676	missense variant	-	NC_000006.12:g.160084033C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly1974Val	rs1463046447	missense variant	-	NC_000006.12:g.160084037G>T	TOPMed
IGF2R	P11717	p.Asp1976His	rs1296482286	missense variant	-	NC_000006.12:g.160084042G>C	TOPMed,gnomAD
IGF2R	P11717	p.Asp1976Val	rs145118454	missense variant	-	NC_000006.12:g.160084043A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val1977Leu	rs1029565475	missense variant	-	NC_000006.12:g.160084045G>C	TOPMed
IGF2R	P11717	p.Thr1978Ala	COSM1441970	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160084048A>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Phe1979Leu	rs749029256	missense variant	-	NC_000006.12:g.160084051T>C	ExAC,gnomAD
IGF2R	P11717	p.Cys1987Arg	rs768961701	missense variant	-	NC_000006.12:g.160084075T>C	ExAC,gnomAD
IGF2R	P11717	p.Pro1988Arg	rs1216123894	missense variant	-	NC_000006.12:g.160084079C>G	gnomAD
IGF2R	P11717	p.Lys1990Arg	rs1264009022	missense variant	-	NC_000006.12:g.160084085A>G	gnomAD
IGF2R	P11717	p.Leu1992Met	rs778980218	missense variant	-	NC_000006.12:g.160084090T>A	ExAC,gnomAD
IGF2R	P11717	p.Cys1994Tyr	rs1273451096	missense variant	-	NC_000006.12:g.160084097G>A	gnomAD
IGF2R	P11717	p.Lys1995Arg	rs1263486841	missense variant	-	NC_000006.12:g.160084100A>G	gnomAD
IGF2R	P11717	p.Phe1996Leu	rs772168682	missense variant	-	NC_000006.12:g.160084104C>A	ExAC,gnomAD
IGF2R	P11717	p.Val1997Ile	rs370080412	missense variant	-	NC_000006.12:g.160084105G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln1998Arg	rs761185315	missense variant	-	NC_000006.12:g.160084109A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys1999Thr	rs1215045100	missense variant	-	NC_000006.12:g.160084112A>C	TOPMed
IGF2R	P11717	p.Tyr2003His	rs1162632668	missense variant	-	NC_000006.12:g.160084123T>C	gnomAD
IGF2R	P11717	p.Asp2004Asn	rs777047674	missense variant	-	NC_000006.12:g.160084126G>A	ExAC,gnomAD
IGF2R	P11717	p.Arg2006Trp	rs763859179	missense variant	-	NC_000006.12:g.160084132C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg2006Gln	rs111641476	missense variant	-	NC_000006.12:g.160084133G>A	TOPMed,gnomAD
IGF2R	P11717	p.Ser2009Thr	rs1356211976	missense variant	-	NC_000006.12:g.160084141T>A	gnomAD
IGF2R	P11717	p.Ser2009Tyr	rs1230492914	missense variant	-	NC_000006.12:g.160084142C>A	gnomAD
IGF2R	P11717	p.Leu2011Phe	rs1321476962	missense variant	-	NC_000006.12:g.160084147C>T	gnomAD
IGF2R	P11717	p.Gly2013Arg	rs756184762	missense variant	-	NC_000006.12:g.160084153G>A	ExAC,gnomAD
IGF2R	P11717	p.Ser2014Phe	rs1443265407	missense variant	-	NC_000006.12:g.160084157C>T	TOPMed
IGF2R	P11717	p.Ser2016Phe	rs780107601	missense variant	-	NC_000006.12:g.160084163C>T	ExAC,gnomAD
IGF2R	P11717	p.Leu2017Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160084165C>G	NCI-TCGA
IGF2R	P11717	p.His2019Arg	rs1297889559	missense variant	-	NC_000006.12:g.160084172A>G	TOPMed
IGF2R	P11717	p.Asn2020Ser	rs1805075	missense variant	-	NC_000006.12:g.160084175A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn2020Lys	rs748324423	missense variant	-	NC_000006.12:g.160084176C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn2020Asp	rs1255456660	missense variant	-	NC_000006.12:g.160084174A>G	TOPMed,gnomAD
IGF2R	P11717	p.Gly2021Arg	rs1378274585	missense variant	-	NC_000006.12:g.160084177G>A	gnomAD
IGF2R	P11717	p.Ser2023Leu	rs1196014783	missense variant	-	NC_000006.12:g.160084184C>T	TOPMed
IGF2R	P11717	p.Tyr2025Cys	rs771898423	missense variant	-	NC_000006.12:g.160085000A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr2025Ser	rs771898423	missense variant	-	NC_000006.12:g.160085000A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile2026Val	rs760362203	missense variant	-	NC_000006.12:g.160085002A>G	ExAC,gnomAD
IGF2R	P11717	p.Leu2028Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160085008C>A	NCI-TCGA
IGF2R	P11717	p.Ile2032Met	rs1002275377	missense variant	-	NC_000006.12:g.160085022A>G	TOPMed,gnomAD
IGF2R	P11717	p.Tyr2033His	rs765810160	missense variant	-	NC_000006.12:g.160085023T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys2034Glu	rs1408527688	missense variant	-	NC_000006.12:g.160085026A>G	TOPMed
IGF2R	P11717	p.Gly2035Glu	COSM1441971	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160085030G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Pro2036Ser	rs1189740682	missense variant	-	NC_000006.12:g.160085032C>T	TOPMed
IGF2R	P11717	p.Gly2038Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160085039G>A	NCI-TCGA
IGF2R	P11717	p.Gly2038Ala	rs1465567643	missense variant	-	NC_000006.12:g.160085039G>C	gnomAD
IGF2R	P11717	p.Cys2039Tyr	rs759451382	missense variant	-	NC_000006.12:g.160085042G>A	ExAC,gnomAD
IGF2R	P11717	p.Ser2040Pro	rs201916817	missense variant	-	NC_000006.12:g.160085044T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg2042Lys	rs1433814199	missense variant	-	NC_000006.12:g.160085051G>A	gnomAD
IGF2R	P11717	p.Ala2043Val	rs752475324	missense variant	-	NC_000006.12:g.160085054C>T	ExAC,gnomAD
IGF2R	P11717	p.Ala2043Thr	COSM3410751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160085053G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Thr2050Ala	rs758170760	missense variant	-	NC_000006.12:g.160085074A>G	ExAC,gnomAD
IGF2R	P11717	p.Thr2050Ile	rs763832100	missense variant	-	NC_000006.12:g.160085075C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr2051Ala	rs535817203	missense variant	-	NC_000006.12:g.160085077A>G	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Gly2052Ser	rs757407683	missense variant	-	NC_000006.12:g.160085080G>A	ExAC,gnomAD
IGF2R	P11717	p.Val2054Ile	rs1449697283	missense variant	-	NC_000006.12:g.160085086G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Val2054Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160085086G>T	NCI-TCGA
IGF2R	P11717	p.Val2054Ile	rs1449697283	missense variant	-	NC_000006.12:g.160085086G>A	TOPMed,gnomAD
IGF2R	P11717	p.Gln2055His	rs745953697	missense variant	-	NC_000006.12:g.160085091G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu2059Phe	rs1199912740	missense variant	-	NC_000006.12:g.160085101C>T	gnomAD
IGF2R	P11717	p.Val2060Ile	rs780584809	missense variant	-	NC_000006.12:g.160085104G>A	ExAC,gnomAD
IGF2R	P11717	p.Thr2062Met	rs749763625	missense variant	-	NC_000006.12:g.160085111C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly2066Ser	rs143509112	missense variant	-	NC_000006.12:g.160085122G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly2066Arg	rs143509112	missense variant	-	NC_000006.12:g.160085122G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile2068Met	rs1404006947	missense variant	-	NC_000006.12:g.160085130A>G	gnomAD
IGF2R	P11717	p.Ile2068Val	rs374103856	missense variant	-	NC_000006.12:g.160085128A>G	-
IGF2R	P11717	p.Ile2068Val	rs374103856	missense variant	-	NC_000006.12:g.160085128A>G	NCI-TCGA
IGF2R	P11717	p.Lys2071Arg	rs201217610	missense variant	-	NC_000006.12:g.160088039A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val2072Ile	rs755484397	missense variant	-	NC_000006.12:g.160088041G>A	ExAC,gnomAD
IGF2R	P11717	p.Val2073Ala	rs1336089266	missense variant	-	NC_000006.12:g.160088045T>C	gnomAD
IGF2R	P11717	p.Thr2075Met	rs748519021	missense variant	-	NC_000006.12:g.160088051C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser2077Cys	rs1289059093	missense variant	-	NC_000006.12:g.160088057C>G	TOPMed,gnomAD
IGF2R	P11717	p.Ser2077Phe	rs1289059093	missense variant	-	NC_000006.12:g.160088057C>T	TOPMed,gnomAD
IGF2R	P11717	p.Lys2078Glu	rs780877053	missense variant	-	NC_000006.12:g.160088059A>G	ExAC,gnomAD
IGF2R	P11717	p.Tyr2080Cys	rs1284213279	missense variant	-	NC_000006.12:g.160088066A>G	NCI-TCGA
IGF2R	P11717	p.Tyr2080Cys	rs1284213279	missense variant	-	NC_000006.12:g.160088066A>G	TOPMed,gnomAD
IGF2R	P11717	p.Pro2081Gln	rs151080511	missense variant	-	NC_000006.12:g.160088069C>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro2081Leu	rs151080511	missense variant	-	NC_000006.12:g.160088069C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Cys2082Phe	rs769380452	missense variant	-	NC_000006.12:g.160088072G>T	ExAC,gnomAD
IGF2R	P11717	p.Asn2085Ile	rs774919148	missense variant	-	NC_000006.12:g.160088081A>T	ExAC,gnomAD
IGF2R	P11717	p.Ala2088Gly	rs768572719	missense variant	-	NC_000006.12:g.160088090C>G	ExAC,gnomAD
IGF2R	P11717	p.Ala2088Thr	rs1239143442	missense variant	-	NC_000006.12:g.160088089G>A	gnomAD
IGF2R	P11717	p.Ser2089Phe	rs1176383873	missense variant	-	NC_000006.12:g.160088093C>T	gnomAD
IGF2R	P11717	p.Ser2090Ala	rs1265037574	missense variant	-	NC_000006.12:g.160088095T>G	gnomAD
IGF2R	P11717	p.Ser2090Phe	rs774167573	missense variant	-	NC_000006.12:g.160088096C>T	ExAC,gnomAD
IGF2R	P11717	p.Val2091Met	rs767164940	missense variant	-	NC_000006.12:g.160088098G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile2092Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160088102T>C	NCI-TCGA
IGF2R	P11717	p.Glu2093Gln	rs750688479	missense variant	-	NC_000006.12:g.160088104G>C	ExAC,gnomAD
IGF2R	P11717	p.Thr2095Ala	rs916026850	missense variant	-	NC_000006.12:g.160088110A>G	TOPMed
IGF2R	P11717	p.Thr2097Ala	rs370183140	missense variant	-	NC_000006.12:g.160088116A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Thr2097Ser	rs370183140	missense variant	-	NC_000006.12:g.160088116A>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys2098Asn	rs940233231	missense variant	-	NC_000006.12:g.160088121G>T	gnomAD
IGF2R	P11717	p.Thr2099Met	rs755610532	missense variant	-	NC_000006.12:g.160088123C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val2100Met	rs758814989	missense variant	-	NC_000006.12:g.160088125G>A	ExAC,gnomAD
IGF2R	P11717	p.Pro2103Ala	rs777962020	missense variant	-	NC_000006.12:g.160088134C>G	ExAC,gnomAD
IGF2R	P11717	p.Lys2106Asn	COSM483642	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160088145G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Arg2107Ser	rs755799799	missense variant	-	NC_000006.12:g.160089107G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2109Val	rs779654748	missense variant	-	NC_000006.12:g.160089112A>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2109Gly	rs779654748	missense variant	-	NC_000006.12:g.160089112A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile2110Thr	rs141062691	missense variant	-	NC_000006.12:g.160089115T>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile2110Val	rs1444164069	missense variant	-	NC_000006.12:g.160089114A>G	TOPMed
IGF2R	P11717	p.Ile2110Asn	rs141062691	missense variant	-	NC_000006.12:g.160089115T>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile2110Met	rs150265433	missense variant	-	NC_000006.12:g.160089116C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2111Gly	rs371845257	missense variant	-	NC_000006.12:g.160089118A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2111His	rs771890925	missense variant	-	NC_000006.12:g.160089117G>C	ExAC,gnomAD
IGF2R	P11717	p.Tyr2115Ter	rs139399606	stop gained	-	NC_000006.12:g.160089131C>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Tyr2116His	rs771328076	missense variant	-	NC_000006.12:g.160089132T>C	ExAC,gnomAD
IGF2R	P11717	p.Phe2117Leu	rs1264664219	missense variant	-	NC_000006.12:g.160089137C>A	gnomAD
IGF2R	P11717	p.Ser2118Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160089138A>G	NCI-TCGA
IGF2R	P11717	p.Ser2118Asn	rs976555431	missense variant	-	NC_000006.12:g.160089139G>A	-
IGF2R	P11717	p.Asp2120Ala	rs376138460	missense variant	-	NC_000006.12:g.160089145A>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2120Asn	rs1487052582	missense variant	-	NC_000006.12:g.160089144G>A	gnomAD
IGF2R	P11717	p.Arg2122Trp	rs1240248488	missense variant	-	NC_000006.12:g.160089150C>T	TOPMed
IGF2R	P11717	p.Ala2124Thr	COSM71137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160089156G>A	NCI-TCGA Cosmic
IGF2R	P11717	p.Ala2126Thr	rs888327107	missense variant	-	NC_000006.12:g.160089162G>A	TOPMed,gnomAD
IGF2R	P11717	p.Val2127Met	rs142990243	missense variant	-	NC_000006.12:g.160089165G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro2129Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160089171C>T	NCI-TCGA
IGF2R	P11717	p.Gln2130Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160089175A>T	NCI-TCGA
IGF2R	P11717	p.Gln2130Ter	rs1282991821	stop gained	-	NC_000006.12:g.160089174C>T	TOPMed
IGF2R	P11717	p.Gln2133His	COSM6105723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160089185G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Met2134Val	rs1380454555	missense variant	-	NC_000006.12:g.160089186A>G	gnomAD
IGF2R	P11717	p.Met2134Ile	rs1398324422	missense variant	-	NC_000006.12:g.160089188G>A	gnomAD
IGF2R	P11717	p.Val2135Leu	rs757639060	missense variant	-	NC_000006.12:g.160089189G>T	ExAC,gnomAD
IGF2R	P11717	p.Gly2137Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160089196G>A	NCI-TCGA
IGF2R	P11717	p.Gly2137Arg	rs1240390774	missense variant	-	NC_000006.12:g.160089195G>A	gnomAD
IGF2R	P11717	p.Ile2139Val	rs1215183203	missense variant	-	NC_000006.12:g.160089201A>G	gnomAD
IGF2R	P11717	p.Asn2141Ser	rs1256092999	missense variant	-	NC_000006.12:g.160089208A>G	gnomAD
IGF2R	P11717	p.Pro2142Ser	COSM3622486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160089210C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Ile2143Thr	rs1180079371	missense variant	-	NC_000006.12:g.160089214T>C	gnomAD
IGF2R	P11717	p.Ile2143Met	rs747606718	missense variant	-	NC_000006.12:g.160089215A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile2143Val	rs778543225	missense variant	-	NC_000006.12:g.160089213A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn2144His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160089216A>C	NCI-TCGA
IGF2R	P11717	p.Lys2146Gln	rs1179489832	missense variant	-	NC_000006.12:g.160089222A>C	gnomAD
IGF2R	P11717	p.Lys2146Glu	rs1179489832	missense variant	-	NC_000006.12:g.160089222A>G	gnomAD
IGF2R	P11717	p.Ser2147Ile	rs1451373529	missense variant	-	NC_000006.12:g.160089226G>T	TOPMed
IGF2R	P11717	p.Gly2151Arg	rs746917220	missense variant	-	NC_000006.12:g.160089237G>A	ExAC,gnomAD
IGF2R	P11717	p.Asp2152His	rs1158412972	missense variant	-	NC_000006.12:g.160089240G>C	gnomAD
IGF2R	P11717	p.Asp2152Tyr	COSM1075621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160089240G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Tyr2154Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160089246T>A	NCI-TCGA
IGF2R	P11717	p.Tyr2154PhePheSerTerUnk	COSM1487428	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160089244_160089245TT>-	NCI-TCGA Cosmic
IGF2R	P11717	p.Leu2157Val	rs1218597239	missense variant	-	NC_000006.12:g.160089917C>G	TOPMed
IGF2R	P11717	p.Ala2160Val	rs777298686	missense variant	-	NC_000006.12:g.160089927C>T	ExAC,gnomAD
IGF2R	P11717	p.Ser2161Pro	rs1398597631	missense variant	-	NC_000006.12:g.160089929T>C	gnomAD
IGF2R	P11717	p.Asp2163ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160089932G>-	NCI-TCGA
IGF2R	P11717	p.Met2164Leu	rs1440989082	missense variant	-	NC_000006.12:g.160089938A>T	TOPMed,gnomAD
IGF2R	P11717	p.Met2164Leu	rs1440989082	missense variant	-	NC_000006.12:g.160089938A>C	TOPMed,gnomAD
IGF2R	P11717	p.Asp2169Asn	rs1369093547	missense variant	-	NC_000006.12:g.160089953G>A	gnomAD
IGF2R	P11717	p.Asp2169Glu	rs149581981	missense variant	-	NC_000006.12:g.160089955C>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Asn2170His	rs1414301567	missense variant	-	NC_000006.12:g.160089956A>C	TOPMed
IGF2R	P11717	p.Tyr2171His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160089959T>C	NCI-TCGA
IGF2R	P11717	p.Glu2174Gln	rs1318447829	missense variant	-	NC_000006.12:g.160089968G>C	gnomAD
IGF2R	P11717	p.Ile2175Met	rs770099023	missense variant	-	NC_000006.12:g.160089973C>G	ExAC,gnomAD
IGF2R	P11717	p.Ser2178Pro	rs1169660231	missense variant	-	NC_000006.12:g.160089980T>C	TOPMed
IGF2R	P11717	p.Ser2179Phe	rs1437062865	missense variant	-	NC_000006.12:g.160089984C>T	gnomAD
IGF2R	P11717	p.Ile2180Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160089986A>G	NCI-TCGA
IGF2R	P11717	p.Arg2184Lys	rs1204075003	missense variant	-	NC_000006.12:g.160089999G>A	gnomAD
IGF2R	P11717	p.Pro2186Leu	rs202077260	missense variant	-	NC_000006.12:g.160090005C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro2186Ala	rs1425667522	missense variant	-	NC_000006.12:g.160090004C>G	TOPMed
IGF2R	P11717	p.Ala2187Val	rs201372819	missense variant	-	NC_000006.12:g.160090008C>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser2189Phe	rs1173503424	missense variant	-	NC_000006.12:g.160090014C>T	gnomAD
IGF2R	P11717	p.Ala2191PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160090018_160090019insTTTTTAGTAGAGACGGGGTTTCACCATGTTG	NCI-TCGA
IGF2R	P11717	p.Ala2191Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160090020C>T	NCI-TCGA
IGF2R	P11717	p.Asn2192Tyr	rs370070074	missense variant	-	NC_000006.12:g.160090022A>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn2192Ile	rs17847658	missense variant	-	NC_000006.12:g.160090023A>T	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn2192Ser	rs17847658	missense variant	-	NC_000006.12:g.160090023A>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn2192Thr	rs17847658	missense variant	-	NC_000006.12:g.160090023A>C	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ile2193Val	rs761005462	missense variant	-	NC_000006.12:g.160090025A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro2198Ala	rs1433877755	missense variant	-	NC_000006.12:g.160090040C>G	gnomAD
IGF2R	P11717	p.Asn2199Lys	rs201255628	missense variant	-	NC_000006.12:g.160090045C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn2199Ser	rs971661080	missense variant	-	NC_000006.12:g.160090044A>G	gnomAD
IGF2R	P11717	p.Asp2200Asn	rs746202843	missense variant	-	NC_000006.12:g.160090046G>A	gnomAD
IGF2R	P11717	p.Asp2200His	rs746202843	missense variant	-	NC_000006.12:g.160090046G>C	gnomAD
IGF2R	P11717	p.His2202Leu	rs762601735	missense variant	-	NC_000006.12:g.160090053A>T	ExAC,gnomAD
IGF2R	P11717	p.Phe2203Val	rs1364771873	missense variant	-	NC_000006.12:g.160090055T>G	TOPMed,gnomAD
IGF2R	P11717	p.Ser2204Asn	rs1394738978	missense variant	-	NC_000006.12:g.160090059G>A	TOPMed
IGF2R	P11717	p.Arg2205Trp	rs981379593	missense variant	-	NC_000006.12:g.160090061C>T	TOPMed,gnomAD
IGF2R	P11717	p.Val2207Ile	rs1228611010	missense variant	-	NC_000006.12:g.160090067G>A	gnomAD
IGF2R	P11717	p.Ser2210PhePheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160090076_160090077insTTTGTCCCACCCGAGGTGTTCAAGCAGCCTGG	NCI-TCGA
IGF2R	P11717	p.Asp2211Ala	rs763527698	missense variant	-	NC_000006.12:g.160090080A>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2211Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160090079G>T	NCI-TCGA
IGF2R	P11717	p.Lys2212Arg	rs751104930	missense variant	-	NC_000006.12:g.160090083A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys2212Glu	rs371139566	missense variant	-	NC_000006.12:g.160090082A>G	ESP,TOPMed,gnomAD
IGF2R	P11717	p.Leu2217Pro	rs1008983189	missense variant	-	NC_000006.12:g.160090098T>C	TOPMed
IGF2R	P11717	p.Asp2219Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160096439A>T	NCI-TCGA
IGF2R	P11717	p.Asp2219Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160090103G>T	NCI-TCGA
IGF2R	P11717	p.Gly2220Ser	rs767145572	missense variant	-	NC_000006.12:g.160096441G>A	ExAC,gnomAD
IGF2R	P11717	p.Asp2221Val	rs1319125836	missense variant	-	NC_000006.12:g.160096445A>T	TOPMed
IGF2R	P11717	p.Asp2221His	rs760594141	missense variant	-	NC_000006.12:g.160096444G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2221Asn	rs760594141	missense variant	-	NC_000006.12:g.160096444G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2223Ala	rs753624419	missense variant	-	NC_000006.12:g.160096451A>C	ExAC,gnomAD
IGF2R	P11717	p.Asp2223Val	rs753624419	missense variant	-	NC_000006.12:g.160096451A>T	ExAC,gnomAD
IGF2R	P11717	p.Val2224Ile	rs1458789977	missense variant	-	NC_000006.12:g.160096453G>A	TOPMed,gnomAD
IGF2R	P11717	p.Val2224Phe	rs1458789977	missense variant	-	NC_000006.12:g.160096453G>T	TOPMed,gnomAD
IGF2R	P11717	p.Val2225Met	rs752921831	missense variant	-	NC_000006.12:g.160096456G>A	ExAC,gnomAD
IGF2R	P11717	p.Val2225Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160096456G>C	NCI-TCGA
IGF2R	P11717	p.Val2225Leu	rs752921831	missense variant	-	NC_000006.12:g.160096456G>T	ExAC,gnomAD
IGF2R	P11717	p.Ala2227Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160096462G>A	NCI-TCGA
IGF2R	P11717	p.Lys2231Glu	rs758559711	missense variant	-	NC_000006.12:g.160096474A>G	ExAC,gnomAD
IGF2R	P11717	p.Cys2232Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160096477T>C	NCI-TCGA
IGF2R	P11717	p.Gly2233Arg	rs778841231	missense variant	-	NC_000006.12:g.160096480G>A	gnomAD
IGF2R	P11717	p.Gly2233Ala	rs369495972	missense variant	-	NC_000006.12:g.160096481G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly2233Arg	rs778841231	missense variant	-	NC_000006.12:g.160096480G>C	gnomAD
IGF2R	P11717	p.Asp2235Gly	rs781711816	missense variant	-	NC_000006.12:g.160096487A>G	ExAC,gnomAD
IGF2R	P11717	p.Lys2236Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160096491G>T	NCI-TCGA
IGF2R	P11717	p.Lys2236Met	rs1327167524	missense variant	-	NC_000006.12:g.160096490A>T	gnomAD
IGF2R	P11717	p.Thr2243Ile	COSM3622487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160096511C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Phe2245Val	rs1321974334	missense variant	-	NC_000006.12:g.160096516T>G	gnomAD
IGF2R	P11717	p.Pro2250Thr	rs772636216	missense variant	-	NC_000006.12:g.160096531C>A	ExAC,gnomAD
IGF2R	P11717	p.Leu2251Pro	rs1193704481	missense variant	-	NC_000006.12:g.160096535T>C	gnomAD
IGF2R	P11717	p.Val2252Leu	rs760208828	missense variant	-	NC_000006.12:g.160096537G>T	ExAC,gnomAD
IGF2R	P11717	p.Gly2255Arg	rs1266187599	missense variant	-	NC_000006.12:g.160096546G>A	gnomAD
IGF2R	P11717	p.Glu2258Lys	rs1457433777	missense variant	-	NC_000006.12:g.160096555G>A	TOPMed
IGF2R	P11717	p.Ser2260Gly	rs1049904369	missense variant	-	NC_000006.12:g.160096561A>G	gnomAD
IGF2R	P11717	p.Ser2260Cys	rs1049904369	missense variant	-	NC_000006.12:g.160096561A>T	gnomAD
IGF2R	P11717	p.Glu2262Lys	rs1200823607	missense variant	-	NC_000006.12:g.160096567G>A	TOPMed
IGF2R	P11717	p.Asp2265His	rs1270143347	missense variant	-	NC_000006.12:g.160096576G>C	gnomAD
IGF2R	P11717	p.Asp2265Gly	rs1395964901	missense variant	-	NC_000006.12:g.160096577A>G	gnomAD
IGF2R	P11717	p.Leu2269Val	rs1304993761	missense variant	-	NC_000006.12:g.160096588C>G	gnomAD
IGF2R	P11717	p.Leu2269Phe	rs1304993761	missense variant	-	NC_000006.12:g.160096588C>T	gnomAD
IGF2R	P11717	p.Thr2274Pro	rs1347780028	missense variant	-	NC_000006.12:g.160096603A>C	TOPMed
IGF2R	P11717	p.Ala2276Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160096610C>A	NCI-TCGA
IGF2R	P11717	p.Ala2276Val	rs763230551	missense variant	-	NC_000006.12:g.160096610C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val2277Leu	COSM6105722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160096612G>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Val2277Met	rs757384756	missense variant	-	NC_000006.12:g.160096612G>A	ExAC,gnomAD
IGF2R	P11717	p.Gly2281Arg	rs1211307049	missense variant	-	NC_000006.12:g.160096624G>A	gnomAD
IGF2R	P11717	p.Val2282Ala	rs756835745	missense variant	-	NC_000006.12:g.160102521T>C	ExAC,gnomAD
IGF2R	P11717	p.Phe2284Val	COSM4930510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160102526T>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Asp2285Gly	rs1313391816	missense variant	-	NC_000006.12:g.160102530A>G	gnomAD
IGF2R	P11717	p.Ser2286Asn	rs139109340	missense variant	-	NC_000006.12:g.160102533G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu2287Lys	rs769778969	missense variant	-	NC_000006.12:g.160102535G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly2290Arg	rs201799984	missense variant	-	NC_000006.12:g.160102544G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly2293Arg	rs865882500	missense variant	-	NC_000006.12:g.160102553G>A	TOPMed,gnomAD
IGF2R	P11717	p.Gln2294Ter	rs1201481591	stop gained	-	NC_000006.12:g.160102556C>T	gnomAD
IGF2R	P11717	p.Met2295Ile	rs563278091	missense variant	-	NC_000006.12:g.160102561G>A	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Gly2298Arg	rs901920092	missense variant	-	NC_000006.12:g.160102568G>C	TOPMed
IGF2R	P11717	p.Glu2301Ala	rs1417470503	missense variant	-	NC_000006.12:g.160102578A>C	gnomAD
IGF2R	P11717	p.Glu2301Lys	rs149190879	missense variant	-	NC_000006.12:g.160102577G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu2301Gln	rs149190879	missense variant	-	NC_000006.12:g.160102577G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg2302Leu	rs370778326	missense variant	-	NC_000006.12:g.160102581G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg2302Trp	rs766500589	missense variant	-	NC_000006.12:g.160102580C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg2302Gly	rs766500589	missense variant	-	NC_000006.12:g.160102580C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Arg2302Gln	rs370778326	missense variant	-	NC_000006.12:g.160102581G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln2304Arg	rs1424705394	missense variant	-	NC_000006.12:g.160102587A>G	TOPMed
IGF2R	P11717	p.Gly2307Cys	rs1180693246	missense variant	-	NC_000006.12:g.160102595G>T	gnomAD
IGF2R	P11717	p.Ala2308Thr	rs73598446	missense variant	-	NC_000006.12:g.160102598G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala2308Ser	rs73598446	missense variant	-	NC_000006.12:g.160102598G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala2308Val	rs147933063	missense variant	-	NC_000006.12:g.160102599C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val2309Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160102601G>T	NCI-TCGA
IGF2R	P11717	p.Leu2310Phe	rs1370534057	missense variant	-	NC_000006.12:g.160102604C>T	gnomAD
IGF2R	P11717	p.Leu2310Pro	rs1390248945	missense variant	-	NC_000006.12:g.160102605T>C	gnomAD
IGF2R	P11717	p.Leu2313Val	rs147120362	missense variant	-	NC_000006.12:g.160102613C>G	ESP,ExAC,gnomAD
IGF2R	P11717	p.Val2315Leu	rs768450906	missense variant	-	NC_000006.12:g.160102619G>T	ExAC,gnomAD
IGF2R	P11717	p.Val2315Met	rs768450906	missense variant	-	NC_000006.12:g.160102619G>A	ExAC,gnomAD
IGF2R	P11717	p.Ala2316Val	rs774272340	missense variant	-	NC_000006.12:g.160102623C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu2317Pro	rs1342578073	missense variant	-	NC_000006.12:g.160102626T>C	TOPMed
IGF2R	P11717	p.Thr2318Ser	rs1404361029	missense variant	-	NC_000006.12:g.160102629C>G	TOPMed
IGF2R	P11717	p.Leu2321Met	rs1176642127	missense variant	-	NC_000006.12:g.160102637C>A	gnomAD
IGF2R	P11717	p.Leu2321Pro	rs1268183351	missense variant	-	NC_000006.12:g.160102638T>C	gnomAD
IGF2R	P11717	p.Leu2322Gln	rs771844603	missense variant	-	NC_000006.12:g.160102641T>A	ExAC,gnomAD
IGF2R	P11717	p.Ala2323Thr	rs773573943	missense variant	-	NC_000006.12:g.160102643G>A	ExAC,gnomAD
IGF2R	P11717	p.Leu2324Val	rs1429013700	missense variant	-	NC_000006.12:g.160102646C>G	gnomAD
IGF2R	P11717	p.Tyr2327His	rs760940665	missense variant	-	NC_000006.12:g.160102655T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys2328Arg	rs766588478	missense variant	-	NC_000006.12:g.160102659A>G	ExAC,gnomAD
IGF2R	P11717	p.Lys2329Arg	rs528323242	missense variant	-	NC_000006.12:g.160102662A>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys2329Asn	rs760128656	missense variant	-	NC_000006.12:g.160102663G>C	ExAC,gnomAD
IGF2R	P11717	p.Glu2330Gln	rs1293566885	missense variant	-	NC_000006.12:g.160102664G>C	gnomAD
IGF2R	P11717	p.Glu2333Gly	rs201699000	missense variant	-	NC_000006.12:g.160103748A>G	1000Genomes,TOPMed
IGF2R	P11717	p.Glu2333Ala	rs201699000	missense variant	-	NC_000006.12:g.160103748A>C	1000Genomes,TOPMed
IGF2R	P11717	p.Glu2333Asp	rs1240700601	missense variant	-	NC_000006.12:g.160103749A>T	gnomAD
IGF2R	P11717	p.Thr2334Ile	rs769851797	missense variant	-	NC_000006.12:g.160103751C>T	ExAC,gnomAD
IGF2R	P11717	p.Ile2336Met	rs775863052	missense variant	-	NC_000006.12:g.160103758A>G	ExAC,gnomAD
IGF2R	P11717	p.Ser2337Thr	rs763473911	missense variant	-	NC_000006.12:g.160103760G>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu2339Val	rs1442416280	missense variant	-	NC_000006.12:g.160103765C>G	TOPMed,gnomAD
IGF2R	P11717	p.Thr2341Ile	rs986116914	missense variant	-	NC_000006.12:g.160103772C>T	gnomAD
IGF2R	P11717	p.Cys2342Trp	rs1307759303	missense variant	-	NC_000006.12:g.160103776C>G	TOPMed
IGF2R	P11717	p.Cys2342Phe	rs1360650400	missense variant	-	NC_000006.12:g.160103775G>T	gnomAD
IGF2R	P11717	p.Arg2345Lys	rs1316210350	missense variant	-	NC_000006.12:g.160103784G>A	gnomAD
IGF2R	P11717	p.Ser2346Gly	rs751895106	missense variant	-	NC_000006.12:g.160103786A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser2347Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160103790C>G	NCI-TCGA
IGF2R	P11717	p.Asn2348Lys	rs766005573	missense variant	-	NC_000006.12:g.160103794C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asn2348Ser	rs17847665	missense variant	-	NC_000006.12:g.160103793A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val2349Met	rs1184483781	missense variant	-	NC_000006.12:g.160103795G>A	TOPMed,gnomAD
IGF2R	P11717	p.Tyr2351Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.160103803C>A	NCI-TCGA
IGF2R	P11717	p.Lys2352Arg	rs150217795	missense variant	-	NC_000006.12:g.160103805A>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys2352Glu	rs973926930	missense variant	-	NC_000006.12:g.160103804A>G	TOPMed
IGF2R	P11717	p.Tyr2353Phe	rs778447412	missense variant	-	NC_000006.12:g.160103808A>T	ExAC,gnomAD
IGF2R	P11717	p.Lys2355Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160103815G>T	NCI-TCGA
IGF2R	P11717	p.Lys2358Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160104682G>T	NCI-TCGA
IGF2R	P11717	p.Glu2359Asp	rs1259669938	missense variant	-	NC_000006.12:g.160104685A>C	TOPMed
IGF2R	P11717	p.Glu2360Lys	rs774845928	missense variant	-	NC_000006.12:g.160104686G>A	ExAC,gnomAD
IGF2R	P11717	p.Thr2362Arg	rs772450171	missense variant	-	NC_000006.12:g.160104693C>G	ExAC,gnomAD
IGF2R	P11717	p.Glu2364Lys	rs1188809436	missense variant	-	NC_000006.12:g.160104698G>A	TOPMed
IGF2R	P11717	p.Thr2367Ile	rs1285823327	missense variant	-	NC_000006.12:g.160104708C>T	gnomAD
IGF2R	P11717	p.Met2371Arg	rs764938075	missense variant	-	NC_000006.12:g.160104720T>G	ExAC,gnomAD
IGF2R	P11717	p.Met2371Val	rs759152354	missense variant	-	NC_000006.12:g.160104719A>G	ExAC,gnomAD
IGF2R	P11717	p.Ile2374Val	rs1207198327	missense variant	-	NC_000006.12:g.160104728A>G	TOPMed
IGF2R	P11717	p.Gln2375Ter	rs369230559	stop gained	-	NC_000006.12:g.160104731C>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln2375Glu	rs369230559	missense variant	-	NC_000006.12:g.160104731C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro2377Leu	rs200822886	missense variant	-	NC_000006.12:g.160104738C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Pro2379Ala	rs372915301	missense variant	-	NC_000006.12:g.160104743C>G	ExAC,gnomAD
IGF2R	P11717	p.Pro2379Leu	COSM3622488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160104744C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Pro2379Ser	rs372915301	missense variant	-	NC_000006.12:g.160104743C>T	ExAC,gnomAD
IGF2R	P11717	p.Arg2380Gln	rs756353602	missense variant	-	NC_000006.12:g.160104747G>A	ExAC,gnomAD
IGF2R	P11717	p.Arg2380Trp	rs200025473	missense variant	-	NC_000006.12:g.160104746C>T	1000Genomes,ExAC,gnomAD
IGF2R	P11717	p.Glu2384Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160104759A>C	NCI-TCGA
IGF2R	P11717	p.Glu2384Gln	rs1204412415	missense variant	-	NC_000006.12:g.160104758G>C	TOPMed,gnomAD
IGF2R	P11717	p.Gln2386Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160104764C>G	NCI-TCGA
IGF2R	P11717	p.Gly2389Ser	rs368895158	missense variant	-	NC_000006.12:g.160104773G>A	ESP,ExAC,gnomAD
IGF2R	P11717	p.Gly2389Asp	rs778916566	missense variant	-	NC_000006.12:g.160104774G>A	ExAC,gnomAD
IGF2R	P11717	p.Thr2392Asn	rs748703829	missense variant	-	NC_000006.12:g.160104783C>A	ExAC,gnomAD
IGF2R	P11717	p.Thr2392Ile	rs748703829	missense variant	-	NC_000006.12:g.160104783C>T	ExAC,gnomAD
IGF2R	P11717	p.Thr2393Ile	rs772602219	missense variant	-	NC_000006.12:g.160104786C>T	ExAC,gnomAD
IGF2R	P11717	p.Lys2394Arg	rs973155291	missense variant	-	NC_000006.12:g.160104789A>G	TOPMed
IGF2R	P11717	p.Lys2394Gln	rs1047984877	missense variant	-	NC_000006.12:g.160104788A>C	TOPMed
IGF2R	P11717	p.Ser2395Leu	rs747385681	missense variant	-	NC_000006.12:g.160104792C>T	ExAC,gnomAD
IGF2R	P11717	p.Ala2398Val	rs771140949	missense variant	-	NC_000006.12:g.160104801C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu2399Phe	rs775285059	missense variant	-	NC_000006.12:g.160104803C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser2400Thr	rs1463722707	missense variant	-	NC_000006.12:g.160104807G>C	gnomAD
IGF2R	P11717	p.Ser2401Phe	rs1224005358	missense variant	-	NC_000006.12:g.160104810C>T	TOPMed,gnomAD
IGF2R	P11717	p.Ser2401Cys	rs1224005358	missense variant	-	NC_000006.12:g.160104810C>G	TOPMed,gnomAD
IGF2R	P11717	p.Ser2401Ala	rs763716333	missense variant	-	NC_000006.12:g.160104809T>G	ExAC,gnomAD
IGF2R	P11717	p.Leu2402Pro	rs1460053849	missense variant	-	NC_000006.12:g.160104813T>C	TOPMed
IGF2R	P11717	p.His2403Arg	rs886400603	missense variant	-	NC_000006.12:g.160104816A>G	TOPMed,gnomAD
IGF2R	P11717	p.His2403Leu	rs886400603	missense variant	-	NC_000006.12:g.160104816A>T	TOPMed,gnomAD
IGF2R	P11717	p.Asp2406His	rs1477541575	missense variant	-	NC_000006.12:g.160104824G>C	TOPMed
IGF2R	P11717	p.Asp2408Asn	rs1240808824	missense variant	-	NC_000006.12:g.160104830G>A	TOPMed
IGF2R	P11717	p.Asp2408Val	rs750273880	missense variant	-	NC_000006.12:g.160104831A>T	ExAC
IGF2R	P11717	p.Glu2410Lys	rs760525553	missense variant	-	NC_000006.12:g.160104836G>A	ExAC
IGF2R	P11717	p.Glu2410Gly	rs766051393	missense variant	-	NC_000006.12:g.160104837A>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu2410Asp	rs754083608	missense variant	-	NC_000006.12:g.160104838G>C	ExAC,gnomAD
IGF2R	P11717	p.Asp2411His	rs779004392	missense variant	-	NC_000006.12:g.160104839G>C	ExAC
IGF2R	P11717	p.Glu2412Asp	rs373123907	missense variant	-	NC_000006.12:g.160104844G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu2412Ala	rs752770507	missense variant	-	NC_000006.12:g.160104843A>C	ExAC,gnomAD
IGF2R	P11717	p.Val2413Ile	rs1165505340	missense variant	-	NC_000006.12:g.160104845G>A	gnomAD
IGF2R	P11717	p.Val2413Phe	rs1165505340	missense variant	-	NC_000006.12:g.160104845G>T	gnomAD
IGF2R	P11717	p.Leu2414Met	rs1383512403	missense variant	-	NC_000006.12:g.160104848C>A	gnomAD
IGF2R	P11717	p.Ile2416Val	rs1475682490	missense variant	-	NC_000006.12:g.160104854A>G	gnomAD
IGF2R	P11717	p.Ile2416Thr	rs747406601	missense variant	-	NC_000006.12:g.160104855T>C	ExAC,gnomAD
IGF2R	P11717	p.Glu2418Gly	COSM1075622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160104861A>G	NCI-TCGA Cosmic
IGF2R	P11717	p.Lys2420Gln	rs1387592414	missense variant	-	NC_000006.12:g.160104866A>C	TOPMed,gnomAD
IGF2R	P11717	p.Lys2420Arg	rs1169623955	missense variant	-	NC_000006.12:g.160104867A>G	TOPMed,gnomAD
IGF2R	P11717	p.Ser2423Trp	rs781647023	missense variant	-	NC_000006.12:g.160104876C>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser2423Pro	rs939596714	missense variant	-	NC_000006.12:g.160104875T>C	TOPMed
IGF2R	P11717	p.Ser2423Leu	rs781647023	missense variant	-	NC_000006.12:g.160104876C>T	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gly2424Ser	rs892663695	missense variant	-	NC_000006.12:g.160104878G>A	TOPMed,gnomAD
IGF2R	P11717	p.Gly2424Asp	rs774066028	missense variant	-	NC_000006.12:g.160104879G>A	ExAC,gnomAD
IGF2R	P11717	p.Gly2426GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160104882G>-	NCI-TCGA
IGF2R	P11717	p.Gly2426Arg	rs771418989	missense variant	-	NC_000006.12:g.160104884G>A	ExAC,gnomAD
IGF2R	P11717	p.Gly2426Ala	rs1262347850	missense variant	-	NC_000006.12:g.160104885G>C	gnomAD
IGF2R	P11717	p.Ala2429Pro	rs138845003	missense variant	-	NC_000006.12:g.160104893G>C	ESP,ExAC,gnomAD
IGF2R	P11717	p.Glu2430Asp	rs371603976	missense variant	-	NC_000006.12:g.160104898G>C	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ser2431Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160104899A>T	NCI-TCGA
IGF2R	P11717	p.Ser2431Ile	rs1185716282	missense variant	-	NC_000006.12:g.160104900G>T	gnomAD
IGF2R	P11717	p.Ser2432Ala	rs766246795	missense variant	-	NC_000006.12:g.160104902T>G	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His2433Tyr	rs753599399	missense variant	-	NC_000006.12:g.160104905C>T	ExAC,gnomAD
IGF2R	P11717	p.His2433Arg	rs1159935081	missense variant	-	NC_000006.12:g.160104906A>G	gnomAD
IGF2R	P11717	p.Pro2434Thr	rs759821807	missense variant	-	NC_000006.12:g.160104908C>A	ExAC,gnomAD
IGF2R	P11717	p.Val2435Met	rs1022745309	missense variant	-	NC_000006.12:g.160104911G>A	TOPMed
IGF2R	P11717	p.Asn2437Lys	rs149379261	missense variant	-	NC_000006.12:g.160104919C>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala2438Thr	rs368682379	missense variant	-	NC_000006.12:g.160104920G>A	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala2438Val	rs758508003	missense variant	-	NC_000006.12:g.160104921C>T	ExAC,gnomAD
IGF2R	P11717	p.Asn2441Ser	rs773385350	missense variant	-	NC_000006.12:g.160104930A>G	ExAC,gnomAD
IGF2R	P11717	p.Ala2442Pro	rs757681085	missense variant	-	NC_000006.12:g.160104932G>C	ExAC,gnomAD
IGF2R	P11717	p.Ala2442Asp	rs1391406550	missense variant	-	NC_000006.12:g.160104933C>A	TOPMed,gnomAD
IGF2R	P11717	p.Gln2444Ter	COSM1754634	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160104938C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Arg2446Cys	rs781717139	missense variant	-	NC_000006.12:g.160104944C>T	ExAC,gnomAD
IGF2R	P11717	p.Arg2446His	rs139929954	missense variant	-	NC_000006.12:g.160104945G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2449Asn	rs778717399	missense variant	-	NC_000006.12:g.160104953G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Val2451Met	rs747718589	missense variant	-	NC_000006.12:g.160104959G>A	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Leu2453AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160104960_160104961insG	NCI-TCGA
IGF2R	P11717	p.Val2454Leu	rs772576706	missense variant	-	NC_000006.12:g.160104968G>C	ExAC,gnomAD
IGF2R	P11717	p.Glu2457Gly	rs373114153	missense variant	-	NC_000006.12:g.160104978A>G	ESP,ExAC,gnomAD
IGF2R	P11717	p.Ala2459Val	rs8191955	missense variant	-	NC_000006.12:g.160104984C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Ala2459Val	rs8191955	missense variant	-	NC_000006.12:g.160104984C>T	UniProt,dbSNP
IGF2R	P11717	p.Ala2459Val	VAR_021316	missense variant	-	NC_000006.12:g.160104984C>T	UniProt
IGF2R	P11717	p.Ala2459Glu	rs8191955	missense variant	-	NC_000006.12:g.160104984C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Lys2463SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.160104992G>-	NCI-TCGA
IGF2R	P11717	p.Ser2465Thr	COSM741312	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160105002G>C	NCI-TCGA Cosmic
IGF2R	P11717	p.Ser2466Cys	rs1344167992	missense variant	-	NC_000006.12:g.160105005C>G	TOPMed
IGF2R	P11717	p.Ala2467Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160105007G>A	NCI-TCGA
IGF2R	P11717	p.Ala2467GluValPheAsnAsnTerValValSerUnk	rs749839779	stop gained	-	NC_000006.12:g.160105007_160105008insAAGTATTTAATAATTAGGTTGTTTC	ExAC
IGF2R	P11717	p.Ala2467Val	rs1301169533	missense variant	-	NC_000006.12:g.160105008C>T	TOPMed
IGF2R	P11717	p.Gln2468His	rs148397081	missense variant	-	NC_000006.12:g.160105012G>T	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Gln2468Ter	rs1323491156	stop gained	-	NC_000006.12:g.160105010C>T	gnomAD
IGF2R	P11717	p.Gln2469Ter	COSM3860137	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.160105013C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Gln2469Arg	rs757845384	missense variant	-	NC_000006.12:g.160105014A>G	ExAC,gnomAD
IGF2R	P11717	p.Val2472Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160105022G>T	NCI-TCGA
IGF2R	P11717	p.Ser2473Asn	rs768155580	missense variant	-	NC_000006.12:g.160105026G>A	ExAC,gnomAD
IGF2R	P11717	p.Ser2473Arg	rs1283925782	missense variant	-	NC_000006.12:g.160105027C>G	gnomAD
IGF2R	P11717	p.Val2478Ala	rs974526074	missense variant	-	NC_000006.12:g.160105041T>C	gnomAD
IGF2R	P11717	p.Ser2479Phe	COSM3622489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.160105044C>T	NCI-TCGA Cosmic
IGF2R	P11717	p.Phe2480Leu	rs756581299	missense variant	-	NC_000006.12:g.160105046T>C	ExAC,TOPMed,gnomAD
IGF2R	P11717	p.His2481Arg	rs1311790864	missense variant	-	NC_000006.12:g.160105050A>G	gnomAD
IGF2R	P11717	p.Asp2482Gly	rs772440498	missense variant	-	NC_000006.12:g.160105053A>G	TOPMed
IGF2R	P11717	p.Asp2482Glu	rs548937731	missense variant	-	NC_000006.12:g.160105054C>G	1000Genomes,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2483Asn	rs370979732	missense variant	-	NC_000006.12:g.160105055G>A	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2485Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.160105062A>G	NCI-TCGA
IGF2R	P11717	p.Asp2485Glu	rs368065139	missense variant	-	NC_000006.12:g.160105063C>G	ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Asp2485Asn	rs375117972	missense variant	-	NC_000006.12:g.160105061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IGF2R	P11717	p.Glu2486Lys	rs927638325	missense variant	-	NC_000006.12:g.160105064G>A	TOPMed,gnomAD
IGF2R	P11717	p.Glu2486Ter	rs927638325	stop gained	-	NC_000006.12:g.160105064G>T	TOPMed,gnomAD
IGF2R	P11717	p.Asp2487Asn	rs1197663935	missense variant	-	NC_000006.12:g.160105067G>A	gnomAD
IGF2R	P11717	p.Leu2488Phe	rs775149509	missense variant	-	NC_000006.12:g.160105070C>T	ExAC,gnomAD
IGF2R	P11717	p.Leu2489Phe	rs938981506	missense variant	-	NC_000006.12:g.160105075A>C	TOPMed,gnomAD
IGF2R	P11717	p.His2490Asp	rs1172161747	missense variant	-	NC_000006.12:g.160105076C>G	gnomAD
IGF2R	P11717	p.Ile2491Val	rs1428470028	missense variant	-	NC_000006.12:g.160105079A>G	gnomAD
IGF2R	P11717	p.Ile2491Thr	rs1303250513	missense variant	-	NC_000006.12:g.160105080T>C	gnomAD
COL11A1	P12107	p.Pro3Leu	rs754339349	missense variant	-	NC_000001.11:g.103108171G>A	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Pro3Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103108172G>C	NCI-TCGA
COL11A1	P12107	p.Pro3Leu	rs754339349	missense variant	-	NC_000001.11:g.103108171G>A	ExAC,gnomAD
COL11A1	P12107	p.Trp4Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103108167C>A	NCI-TCGA
COL11A1	P12107	p.Trp4Arg	rs766915989	missense variant	-	NC_000001.11:g.103108169A>G	ExAC,gnomAD
COL11A1	P12107	p.Ser6Phe	rs528624430	missense variant	-	NC_000001.11:g.103108162G>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Arg7Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103108160T>C	NCI-TCGA
COL11A1	P12107	p.Arg7Lys	rs1244836532	missense variant	-	NC_000001.11:g.103108159C>T	TOPMed
COL11A1	P12107	p.Trp8Gly	rs12025888	missense variant	-	NC_000001.11:g.103108157A>C	-
COL11A1	P12107	p.Trp8Gly	rs12025888	missense variant	-	NC_000001.11:g.103108157A>C	UniProt,dbSNP
COL11A1	P12107	p.Trp8Gly	VAR_047723	missense variant	-	NC_000001.11:g.103108157A>C	UniProt
COL11A1	P12107	p.Thr10Met	rs1024598882	missense variant	-	NC_000001.11:g.103108150G>A	-
COL11A1	P12107	p.Thr10Ala	rs1448932139	missense variant	-	NC_000001.11:g.103108151T>C	gnomAD
COL11A1	P12107	p.Thr10Met	rs1024598882	missense variant	-	NC_000001.11:g.103108150G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys11Glu	rs773297282	missense variant	-	NC_000001.11:g.103108148T>C	ExAC,gnomAD
COL11A1	P12107	p.Arg12Pro	RCV000271577	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103108144C>G	ClinVar
COL11A1	P12107	p.Arg12Trp	COSM4020030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103108145G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg12Pro	RCV000312535	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103108144C>G	ClinVar
COL11A1	P12107	p.Arg12Pro	RCV000367252	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103108144C>G	ClinVar
COL11A1	P12107	p.Arg12Gln	rs767496065	missense variant	-	NC_000001.11:g.103108144C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg12Pro	rs767496065	missense variant	-	NC_000001.11:g.103108144C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg12Leu	rs767496065	missense variant	-	NC_000001.11:g.103108144C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Trp13Cys	rs762034138	missense variant	-	NC_000001.11:g.103108140C>A	ExAC,gnomAD
COL11A1	P12107	p.Trp15Arg	rs774767622	missense variant	-	NC_000001.11:g.103108136A>T	NCI-TCGA
COL11A1	P12107	p.Trp15Arg	rs774767622	missense variant	-	NC_000001.11:g.103108136A>T	ExAC,gnomAD
COL11A1	P12107	p.Phe17Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103108128G>T	NCI-TCGA
COL11A1	P12107	p.Thr18Ile	COSM3470531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103108126G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr18Ala	rs114630202	missense variant	-	NC_000001.11:g.103108127T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr18Ser	rs114630202	missense variant	-	NC_000001.11:g.103108127T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val19Ile	rs770851098	missense variant	-	NC_000001.11:g.103108124C>T	ExAC,gnomAD
COL11A1	P12107	p.Thr20Arg	rs1284115273	missense variant	-	NC_000001.11:g.103108120G>C	TOPMed
COL11A1	P12107	p.Thr21ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103108118_103108119insCGCGGCCGGAGGGTCCCGGCCGG	NCI-TCGA
COL11A1	P12107	p.Thr21Ile	rs375761728	missense variant	-	NC_000001.11:g.103108117G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr21Asn	rs375761728	missense variant	-	NC_000001.11:g.103108117G>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Leu22His	COSM6057172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103108114A>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu22Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103108114A>G	NCI-TCGA
COL11A1	P12107	p.Leu22Phe	rs1327862186	missense variant	-	NC_000001.11:g.103108115G>A	TOPMed,gnomAD
COL11A1	P12107	p.Ala23Thr	rs1386580787	missense variant	-	NC_000001.11:g.103108112C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala23ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103108112_103108113insG	NCI-TCGA
COL11A1	P12107	p.Ala23Pro	rs1386580787	missense variant	-	NC_000001.11:g.103108112C>G	TOPMed,gnomAD
COL11A1	P12107	p.Ala23Thr	rs1386580787	missense variant	-	NC_000001.11:g.103108112C>T	TOPMed,gnomAD
COL11A1	P12107	p.Ala23Ser	rs1386580787	missense variant	-	NC_000001.11:g.103108112C>A	TOPMed,gnomAD
COL11A1	P12107	p.Leu24Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103108107C>G	NCI-TCGA
COL11A1	P12107	p.Arg31Thr	rs1166096502	missense variant	-	NC_000001.11:g.103108087C>G	gnomAD
COL11A1	P12107	p.Glu32Gly	rs778603790	missense variant	-	NC_000001.11:g.103108084T>C	ExAC,gnomAD
COL11A1	P12107	p.Val33Ile	rs755307749	missense variant	-	NC_000001.11:g.103108082C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg34Ile	rs1407144872	missense variant	-	NC_000001.11:g.103108078C>A	TOPMed
COL11A1	P12107	p.Ala37Val	rs369749483	missense variant	-	NC_000001.11:g.103082969G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro38Leu	rs781586633	missense variant	-	NC_000001.11:g.103082966G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro38Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103082967G>T	NCI-TCGA
COL11A1	P12107	p.Val39Ala	rs1219599526	missense variant	-	NC_000001.11:g.103082963A>G	TOPMed,gnomAD
COL11A1	P12107	p.Asp40Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103082961C>T	NCI-TCGA
COL11A1	P12107	p.Val41Ile	rs751641017	missense variant	-	NC_000001.11:g.103082958C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala44Thr	RCV000601599	missense variant	-	NC_000001.11:g.103082949C>T	ClinVar
COL11A1	P12107	p.Ala44HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103082950T>-	NCI-TCGA
COL11A1	P12107	p.Ala44Gly	rs1470129804	missense variant	-	NC_000001.11:g.103082948G>C	gnomAD
COL11A1	P12107	p.Ala44Thr	rs150090939	missense variant	-	NC_000001.11:g.103082949C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Leu45Val	rs1038296607	missense variant	-	NC_000001.11:g.103082946G>C	TOPMed,gnomAD
COL11A1	P12107	p.Asp46Glu	RCV000275406	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103082941A>C	ClinVar
COL11A1	P12107	p.Asp46Glu	RCV000333355	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103082941A>C	ClinVar
COL11A1	P12107	p.Asp46Glu	RCV000250002	missense variant	-	NC_000001.11:g.103082941A>C	ClinVar
COL11A1	P12107	p.Asp46Glu	RCV000383797	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103082941A>C	ClinVar
COL11A1	P12107	p.Asp46Val	rs1292563811	missense variant	-	NC_000001.11:g.103082942T>A	gnomAD
COL11A1	P12107	p.Asp46Glu	rs11164663	missense variant	-	NC_000001.11:g.103082941A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe47Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103082940A>G	NCI-TCGA
COL11A1	P12107	p.Phe47Ile	rs143159512	missense variant	-	NC_000001.11:g.103082940A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.His48Gln	COSM674558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082935G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.His48Arg	rs1186262161	missense variant	-	NC_000001.11:g.103082936T>C	gnomAD
COL11A1	P12107	p.Asn49Ser	RCV000518863	missense variant	-	NC_000001.11:g.103082933T>C	ClinVar
COL11A1	P12107	p.Asn49Ser	rs145159429	missense variant	-	NC_000001.11:g.103082933T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro51Arg	rs771956360	missense variant	-	NC_000001.11:g.103082927G>C	ExAC,gnomAD
COL11A1	P12107	p.Glu52Asp	rs1047945584	missense variant	-	NC_000001.11:g.103082923C>A	gnomAD
COL11A1	P12107	p.Glu52Gln	rs761765612	missense variant	-	NC_000001.11:g.103082925C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly53Glu	rs139542185	missense variant	-	NC_000001.11:g.103082921C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly53Arg	rs1230337575	missense variant	-	NC_000001.11:g.103082922C>T	TOPMed
COL11A1	P12107	p.Ile54Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103082917T>C	NCI-TCGA
COL11A1	P12107	p.Lys56Arg	rs1226026683	missense variant	-	NC_000001.11:g.103082912T>C	gnomAD
COL11A1	P12107	p.Thr57Ala	rs768163272	missense variant	-	NC_000001.11:g.103082910T>C	ExAC,gnomAD
COL11A1	P12107	p.Thr57Arg	rs748922582	missense variant	-	NC_000001.11:g.103082909G>C	ExAC,gnomAD
COL11A1	P12107	p.Thr58Ala	rs779635348	missense variant	-	NC_000001.11:g.103082907T>C	ExAC,gnomAD
COL11A1	P12107	p.Thr58Met	rs770162224	missense variant	-	NC_000001.11:g.103082906G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr58Met	RCV000519601	missense variant	-	NC_000001.11:g.103082906G>A	ClinVar
COL11A1	P12107	p.Gly59Glu	COSM4531214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082903C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly59Arg	rs1044368824	missense variant	-	NC_000001.11:g.103082904C>T	TOPMed
COL11A1	P12107	p.Phe60Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103082900A>G	NCI-TCGA
COL11A1	P12107	p.Phe60Leu	rs1434633749	missense variant	-	NC_000001.11:g.103082899A>T	gnomAD
COL11A1	P12107	p.Cys61Ter	COSM6057178	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103082896G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Cys61Trp	COSM4929844	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082896G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr62Arg	rs746264058	missense variant	-	NC_000001.11:g.103082894G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn63Ser	rs757797166	missense variant	-	NC_000001.11:g.103082891T>C	ExAC,gnomAD
COL11A1	P12107	p.Arg64Ile	COSM893181	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082888C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg64Lys	rs1272896075	missense variant	-	NC_000001.11:g.103082888C>T	TOPMed,gnomAD
COL11A1	P12107	p.Lys65Asn	COSM893179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082884C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys65IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103082882_103082885TTCT>-	NCI-TCGA
COL11A1	P12107	p.Lys65Asn	rs928084007	missense variant	-	NC_000001.11:g.103082884C>G	TOPMed,gnomAD
COL11A1	P12107	p.Lys65Arg	rs200396868	missense variant	-	NC_000001.11:g.103082885T>C	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Ser67Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103082879G>T	NCI-TCGA
COL11A1	P12107	p.Gly69Val	rs758610033	missense variant	-	NC_000001.11:g.103082873C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly69Cys	rs1244439112	missense variant	-	NC_000001.11:g.103082874C>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly69Ser	rs1244439112	missense variant	-	NC_000001.11:g.103082874C>T	TOPMed,gnomAD
COL11A1	P12107	p.Asp71Val	rs755917103	missense variant	-	NC_000001.11:g.103082867T>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr72Ser	RCV000329141	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103082864G>C	ClinVar
COL11A1	P12107	p.Thr72Ser	RCV000269415	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103082864G>C	ClinVar
COL11A1	P12107	p.Thr72Ser	RCV000363932	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103082864G>C	ClinVar
COL11A1	P12107	p.Thr72Ser	rs56230601	missense variant	-	NC_000001.11:g.103082864G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Tyr74His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103082859A>G	NCI-TCGA
COL11A1	P12107	p.Arg75Lys	COSM5930476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082855C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg75Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103082856T>A	NCI-TCGA
COL11A1	P12107	p.Val76Leu	rs774327003	missense variant	-	NC_000001.11:g.103082853C>G	ExAC,gnomAD
COL11A1	P12107	p.Gln81Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103082838G>T	NCI-TCGA
COL11A1	P12107	p.Ser83Arg	COSM6120232	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082830A>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala84Val	rs1290800296	missense variant	-	NC_000001.11:g.103082828G>A	gnomAD
COL11A1	P12107	p.Pro85Thr	rs775183408	missense variant	-	NC_000001.11:g.103082826G>T	ExAC,gnomAD
COL11A1	P12107	p.Gln88Leu	rs1302541426	missense variant	-	NC_000001.11:g.103082816T>A	gnomAD
COL11A1	P12107	p.Gln88His	rs776794060	missense variant	-	NC_000001.11:g.103082815C>G	ExAC,gnomAD
COL11A1	P12107	p.Gln88Glu	rs745563977	missense variant	-	NC_000001.11:g.103082817G>C	ExAC
COL11A1	P12107	p.Leu89Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103082813A>C	NCI-TCGA
COL11A1	P12107	p.Phe90Leu	rs373790561	missense variant	-	NC_000001.11:g.103082811A>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe90Tyr	rs986681092	missense variant	-	NC_000001.11:g.103082810A>T	TOPMed,gnomAD
COL11A1	P12107	p.Phe90Ile	rs373790561	missense variant	-	NC_000001.11:g.103082811A>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro91Ser	rs747506988	missense variant	-	NC_000001.11:g.103082808G>A	NCI-TCGA
COL11A1	P12107	p.Pro91Ser	rs747506988	missense variant	-	NC_000001.11:g.103082808G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly92Val	rs1372284079	missense variant	-	NC_000001.11:g.103078871C>A	TOPMed
COL11A1	P12107	p.Gly93Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103078869C>T	NCI-TCGA
COL11A1	P12107	p.Thr94Ala	rs780290869	missense variant	-	NC_000001.11:g.103078866T>C	ExAC,gnomAD
COL11A1	P12107	p.Thr94Ile	rs1283924469	missense variant	-	NC_000001.11:g.103078865G>A	TOPMed,gnomAD
COL11A1	P12107	p.Thr94Ser	rs1283924469	missense variant	-	NC_000001.11:g.103078865G>C	TOPMed,gnomAD
COL11A1	P12107	p.Pro96Leu	rs757021843	missense variant	-	NC_000001.11:g.103078859G>A	ExAC,gnomAD
COL11A1	P12107	p.Ile101Val	rs751303776	missense variant	-	NC_000001.11:g.103078845T>C	ExAC,gnomAD
COL11A1	P12107	p.Thr104Arg	COSM6120234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078835G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr104Lys	rs1324002400	missense variant	-	NC_000001.11:g.103078835G>T	gnomAD
COL11A1	P12107	p.Val105Ile	rs1284742042	missense variant	-	NC_000001.11:g.103078833C>T	gnomAD
COL11A1	P12107	p.Val105Glu	rs1407636928	missense variant	-	NC_000001.11:g.103078832A>T	gnomAD
COL11A1	P12107	p.Pro107Leu	COSM3470527	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078826G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro107Ser	rs1298293526	missense variant	-	NC_000001.11:g.103078827G>A	gnomAD
COL11A1	P12107	p.Pro107Thr	rs1298293526	missense variant	-	NC_000001.11:g.103078827G>T	gnomAD
COL11A1	P12107	p.Pro107Gln	rs1443536213	missense variant	-	NC_000001.11:g.103078826G>T	gnomAD
COL11A1	P12107	p.Lys108Arg	rs1173736609	missense variant	-	NC_000001.11:g.103078823T>C	gnomAD
COL11A1	P12107	p.Lys108Glu	rs752692524	missense variant	-	NC_000001.11:g.103078824T>C	ExAC,gnomAD
COL11A1	P12107	p.Gly110GluPheSerTerUnkUnk	COSM1332170	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103078819T>-	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly110Arg	RCV000430222	missense variant	-	NC_000001.11:g.103078818C>G	ClinVar
COL11A1	P12107	p.Gly110Arg	RCV000659306	missense variant	Connective tissue disorder	NC_000001.11:g.103078818C>T	ClinVar
COL11A1	P12107	p.Gly110Arg	rs141978499	missense variant	-	NC_000001.11:g.103078818C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly110ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103078818_103078819insT	NCI-TCGA
COL11A1	P12107	p.Gly110Val	rs1471161554	missense variant	-	NC_000001.11:g.103078817C>A	gnomAD
COL11A1	P12107	p.Gly110Arg	rs141978499	missense variant	-	NC_000001.11:g.103078818C>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly110Ter	rs141978499	stop gained	-	NC_000001.11:g.103078818C>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly110Arg	rs141978499	missense variant	-	NC_000001.11:g.103078818C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile111Phe	rs759153754	missense variant	-	NC_000001.11:g.103078815T>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser113Phe	rs753510370	missense variant	-	NC_000001.11:g.103078808G>A	ExAC,gnomAD
COL11A1	P12107	p.Leu115His	COSM5087748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078802A>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu116Ile	rs760427659	missense variant	-	NC_000001.11:g.103078800A>T	ExAC,gnomAD
COL11A1	P12107	p.Ser117Cys	rs143396707	missense variant	-	NC_000001.11:g.103078796G>C	ESP,ExAC
COL11A1	P12107	p.Ile118Val	rs202212358	missense variant	-	NC_000001.11:g.103078794T>C	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Ile118Met	rs944161796	missense variant	-	NC_000001.11:g.103078792T>C	TOPMed,gnomAD
COL11A1	P12107	p.Ile118Thr	rs1261502451	missense variant	-	NC_000001.11:g.103078793A>G	gnomAD
COL11A1	P12107	p.Asn120Asp	rs1325493665	missense variant	-	NC_000001.11:g.103078788T>C	gnomAD
COL11A1	P12107	p.Glu121Asp	rs1238295283	missense variant	-	NC_000001.11:g.103078783C>A	TOPMed,gnomAD
COL11A1	P12107	p.Glu121Lys	rs762173332	missense variant	-	NC_000001.11:g.103078785C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.His122Asn	rs1469555372	missense variant	-	NC_000001.11:g.103078782G>T	gnomAD
COL11A1	P12107	p.His122Pro	rs1315092621	missense variant	-	NC_000001.11:g.103078781T>G	gnomAD
COL11A1	P12107	p.Gly123Ser	rs1309002302	missense variant	-	NC_000001.11:g.103078779C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly123Ser	rs1309002302	missense variant	-	NC_000001.11:g.103078779C>T	gnomAD
COL11A1	P12107	p.Gly123Asp	rs1391480996	missense variant	-	NC_000001.11:g.103078778C>T	gnomAD
COL11A1	P12107	p.Ile124Met	rs1381314285	missense variant	-	NC_000001.11:g.103078774A>C	gnomAD
COL11A1	P12107	p.Ile127Val	rs774983366	missense variant	-	NC_000001.11:g.103078767T>C	ExAC,gnomAD
COL11A1	P12107	p.Gly128Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103078764C>A	NCI-TCGA
COL11A1	P12107	p.Gly128Ser	rs768583987	missense variant	-	NC_000001.11:g.103078764C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly128Val	rs1407358543	missense variant	-	NC_000001.11:g.103078763C>A	gnomAD
COL11A1	P12107	p.Val129Phe	COSM6120236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078761C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Val129Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103078760A>C	NCI-TCGA
COL11A1	P12107	p.Val131Phe	rs1158320165	missense variant	-	NC_000001.11:g.103078755C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Val131Ile	rs1158320165	missense variant	-	NC_000001.11:g.103078755C>T	TOPMed,gnomAD
COL11A1	P12107	p.Val131Phe	rs1158320165	missense variant	-	NC_000001.11:g.103078755C>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly132Arg	rs749430584	missense variant	-	NC_000001.11:g.103078752C>T	ExAC,gnomAD
COL11A1	P12107	p.Arg133Ser	rs1366081032	missense variant	-	NC_000001.11:g.103078747T>G	gnomAD
COL11A1	P12107	p.Pro135Ser	rs780128263	missense variant	-	NC_000001.11:g.103078743G>A	ExAC,gnomAD
COL11A1	P12107	p.Phe137Ser	rs769960670	missense variant	-	NC_000001.11:g.103078736A>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe137Val	rs889868652	missense variant	-	NC_000001.11:g.103078737A>C	TOPMed,gnomAD
COL11A1	P12107	p.Asp141Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103078725C>A	NCI-TCGA
COL11A1	P12107	p.Asp141Gly	rs1430449624	missense variant	-	NC_000001.11:g.103078724T>C	TOPMed,gnomAD
COL11A1	P12107	p.His142Asp	COSM6120240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078722G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.His142Gln	COSM6057182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078720G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.His142Asn	rs1170326576	missense variant	-	NC_000001.11:g.103078722G>T	TOPMed
COL11A1	P12107	p.Gly144Glu	rs758270590	missense variant	-	NC_000001.11:g.103078715C>T	ExAC,gnomAD
COL11A1	P12107	p.Pro146Leu	rs543199135	missense variant	-	NC_000001.11:g.103078709G>A	NCI-TCGA
COL11A1	P12107	p.Pro146Leu	rs543199135	missense variant	-	NC_000001.11:g.103078709G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala147Val	rs1262422034	missense variant	-	NC_000001.11:g.103078706G>A	gnomAD
COL11A1	P12107	p.Pro148Gln	rs1349413659	missense variant	-	NC_000001.11:g.103078703G>T	TOPMed
COL11A1	P12107	p.Pro148Ala	rs1322123798	missense variant	-	NC_000001.11:g.103078704G>C	TOPMed
COL11A1	P12107	p.Asp150Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103078698C>A	NCI-TCGA
COL11A1	P12107	p.Tyr151Cys	rs754424269	missense variant	-	NC_000001.11:g.103078694T>C	ExAC,gnomAD
COL11A1	P12107	p.Pro152Arg	rs1247765315	missense variant	-	NC_000001.11:g.103078691G>C	gnomAD
COL11A1	P12107	p.Pro152Thr	rs1312249178	missense variant	-	NC_000001.11:g.103078692G>T	gnomAD
COL11A1	P12107	p.Leu153Arg	rs760340111	missense variant	-	NC_000001.11:g.103078688A>C	ExAC,gnomAD
COL11A1	P12107	p.Leu153Phe	rs766020105	missense variant	-	NC_000001.11:g.103078689G>A	ExAC,gnomAD
COL11A1	P12107	p.Phe154Cys	rs1290031569	missense variant	-	NC_000001.11:g.103078685A>C	gnomAD
COL11A1	P12107	p.Arg155Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103078683T>C	NCI-TCGA
COL11A1	P12107	p.Thr156Ile	COSM1127509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078679G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ile159Val	rs774693614	missense variant	-	NC_000001.11:g.103078671T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile159Leu	rs774693614	missense variant	-	NC_000001.11:g.103078671T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala160Thr	rs146954848	missense variant	-	NC_000001.11:g.103078668C>T	NCI-TCGA
COL11A1	P12107	p.Ala160Thr	rs146954848	missense variant	-	NC_000001.11:g.103078668C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala160Asp	rs1481571907	missense variant	-	NC_000001.11:g.103078667G>T	gnomAD
COL11A1	P12107	p.Asp161Glu	rs557000127	missense variant	-	NC_000001.11:g.103078663G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp161Glu	rs557000127	missense variant	-	NC_000001.11:g.103078663G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys163SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103078660C>-	NCI-TCGA
COL11A1	P12107	p.Lys163Glu	rs1445138450	missense variant	-	NC_000001.11:g.103078659T>C	TOPMed,gnomAD
COL11A1	P12107	p.Lys163Met	rs1235598642	missense variant	-	NC_000001.11:g.103078658T>A	gnomAD
COL11A1	P12107	p.Trp164Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103074777C>T	NCI-TCGA
COL11A1	P12107	p.Trp164Ser	rs749226898	missense variant	-	NC_000001.11:g.103074778C>G	ExAC
COL11A1	P12107	p.Trp164Gly	rs1335304175	missense variant	-	NC_000001.11:g.103074779A>C	gnomAD
COL11A1	P12107	p.Arg166Gln	rs142753283	missense variant	-	NC_000001.11:g.103074772C>T	NCI-TCGA
COL11A1	P12107	p.Arg166Gln	rs142753283	missense variant	-	NC_000001.11:g.103074772C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg166Leu	rs142753283	missense variant	-	NC_000001.11:g.103074772C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg166Trp	rs780211105	missense variant	-	NC_000001.11:g.103074773G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val167Leu	rs1397511947	missense variant	-	NC_000001.11:g.103074770C>A	TOPMed,gnomAD
COL11A1	P12107	p.Ala168Thr	rs150144437	missense variant	-	NC_000001.11:g.103074767C>T	1000Genomes,ESP,ExAC,gnomAD
COL11A1	P12107	p.Ala168Thr	rs150144437	missense variant	-	NC_000001.11:g.103074767C>T	NCI-TCGA
COL11A1	P12107	p.Ser170Arg	rs749497678	missense variant	-	NC_000001.11:g.103074759G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser170Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074760C>T	NCI-TCGA
COL11A1	P12107	p.Val171Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074757A>T	NCI-TCGA
COL11A1	P12107	p.Val171Ala	rs764504302	missense variant	-	NC_000001.11:g.103074757A>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val171Met	rs751182532	missense variant	-	NC_000001.11:g.103074758C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu172Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074753C>A	NCI-TCGA
COL11A1	P12107	p.Glu172Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074755C>T	NCI-TCGA
COL11A1	P12107	p.Lys173Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074750C>A	NCI-TCGA
COL11A1	P12107	p.Lys173Glu	rs1042498161	missense variant	-	NC_000001.11:g.103074752T>C	TOPMed
COL11A1	P12107	p.Lys174Ile	COSM674562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074748T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Met178Val	rs1363375133	missense variant	-	NC_000001.11:g.103074737T>C	gnomAD
COL11A1	P12107	p.Met178Ile	rs758827956	missense variant	-	NC_000001.11:g.103074735C>G	ExAC,gnomAD
COL11A1	P12107	p.Ile179Phe	rs753171168	missense variant	-	NC_000001.11:g.103074734T>A	ExAC,gnomAD
COL11A1	P12107	p.Val180Ile	rs765782213	missense variant	-	NC_000001.11:g.103074731C>T	ExAC,gnomAD
COL11A1	P12107	p.Cys182Phe	COSM1472346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074724C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Cys182Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074725A>G	NCI-TCGA
COL11A1	P12107	p.Lys183Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074720C>A	NCI-TCGA
COL11A1	P12107	p.Lys183Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074720C>G	NCI-TCGA
COL11A1	P12107	p.Lys184Asn	COSM5117291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074717C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr187Met	rs184606223	missense variant	-	NC_000001.11:g.103074709G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr187Lys	rs184606223	missense variant	-	NC_000001.11:g.103074709G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro189Ser	rs201557468	missense variant	-	NC_000001.11:g.103074704G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro189Thr	rs201557468	missense variant	-	NC_000001.11:g.103074704G>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Leu190Phe	COSM1688183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074701G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu190Val	rs1350630820	missense variant	-	NC_000001.11:g.103074701G>C	gnomAD
COL11A1	P12107	p.Asp191Asn	COSM3788357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074698C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp191Glu	rs775444430	missense variant	-	NC_000001.11:g.103074696A>T	ExAC,gnomAD
COL11A1	P12107	p.Asp191His	rs1278245714	missense variant	-	NC_000001.11:g.103074698C>G	gnomAD
COL11A1	P12107	p.Ser193Cys	rs1377655546	missense variant	-	NC_000001.11:g.103074692T>A	TOPMed,gnomAD
COL11A1	P12107	p.Ser193Asn	rs556608789	missense variant	-	NC_000001.11:g.103074691C>T	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Ser193Arg	rs1377655546	missense variant	-	NC_000001.11:g.103074692T>G	TOPMed,gnomAD
COL11A1	P12107	p.Arg195Ile	rs544400795	missense variant	-	NC_000001.11:g.103074685C>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Ala196Thr	rs1483826155	missense variant	-	NC_000001.11:g.103074683C>T	TOPMed
COL11A1	P12107	p.Ile197Phe	COSM3470523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074680T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ile197Val	rs1403685939	missense variant	-	NC_000001.11:g.103074680T>C	gnomAD
COL11A1	P12107	p.Val198Ile	rs1178359944	missense variant	-	NC_000001.11:g.103074677C>T	gnomAD
COL11A1	P12107	p.Asp199Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074673T>A	NCI-TCGA
COL11A1	P12107	p.Thr200Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074671T>C	NCI-TCGA
COL11A1	P12107	p.Thr200Asn	rs1156671073	missense variant	-	NC_000001.11:g.103074670G>T	TOPMed,gnomAD
COL11A1	P12107	p.Thr200Ile	rs1156671073	missense variant	-	NC_000001.11:g.103074670G>A	TOPMed,gnomAD
COL11A1	P12107	p.Asn201Ser	rs201647477	missense variant	-	NC_000001.11:g.103074667T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile203Val	rs770403134	missense variant	-	NC_000001.11:g.103074662T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr204Met	rs199595073	missense variant	-	NC_000001.11:g.103074658G>A	NCI-TCGA
COL11A1	P12107	p.Thr204Met	rs199595073	missense variant	-	NC_000001.11:g.103074658G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe206Leu	rs1211295020	missense variant	-	NC_000001.11:g.103074651A>C	gnomAD
COL11A1	P12107	p.Thr208Lys	COSM893169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074646G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg209Trp	COSM1560146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074644T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg209Gly	rs753011538	missense variant	-	NC_000001.11:g.103074644T>C	ExAC,gnomAD
COL11A1	P12107	p.Arg209Ser	rs1282777939	missense variant	-	NC_000001.11:g.103074642C>A	gnomAD
COL11A1	P12107	p.Ile210Val	RCV000384258	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103074641T>C	ClinVar
COL11A1	P12107	p.Ile210Val	RCV000289899	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103074641T>C	ClinVar
COL11A1	P12107	p.Ile210Val	rs779282500	missense variant	-	NC_000001.11:g.103074641T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile210Val	RCV000324984	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103074641T>C	ClinVar
COL11A1	P12107	p.Leu211Ser	rs1354576547	missense variant	-	NC_000001.11:g.103074637A>G	gnomAD
COL11A1	P12107	p.Asp212Tyr	rs755412012	missense variant	-	NC_000001.11:g.103074635C>A	ExAC,gnomAD
COL11A1	P12107	p.Asp212Glu	rs754315991	missense variant	-	NC_000001.11:g.103074633A>C	ExAC,gnomAD
COL11A1	P12107	p.Glu213Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103074632C>A	NCI-TCGA
COL11A1	P12107	p.Glu214Asp	COSM5654634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074627T>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Val215Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103074626C>A	NCI-TCGA
COL11A1	P12107	p.Val215Leu	rs1171410203	missense variant	-	NC_000001.11:g.103074626C>G	TOPMed
COL11A1	P12107	p.Gly218Arg	COSM3470521	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103031244C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly218Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103031243C>A	NCI-TCGA
COL11A1	P12107	p.Asp219Tyr	rs1478318886	missense variant	-	NC_000001.11:g.103031241C>A	NCI-TCGA
COL11A1	P12107	p.Asp219Tyr	rs1478318886	missense variant	-	NC_000001.11:g.103031241C>A	gnomAD
COL11A1	P12107	p.Asp219Gly	rs1268801503	missense variant	-	NC_000001.11:g.103031240T>C	gnomAD
COL11A1	P12107	p.Asp219Val	rs1268801503	missense variant	-	NC_000001.11:g.103031240T>A	gnomAD
COL11A1	P12107	p.Gln221Glu	COSM6120242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103031235G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln221Ter	COSM3862072	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103031235G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln221His	rs1231807986	missense variant	-	NC_000001.11:g.103031233C>A	TOPMed
COL11A1	P12107	p.Leu224Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103031225A>G	NCI-TCGA
COL11A1	P12107	p.Gly227Ser	rs749668126	missense variant	-	NC_000001.11:g.103031217C>T	ExAC,gnomAD
COL11A1	P12107	p.Asp228Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103031214C>A	NCI-TCGA
COL11A1	P12107	p.Asp228Asn	rs746487895	missense variant	-	NC_000001.11:g.103031214C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro229Ala	rs756507085	missense variant	-	NC_000001.11:g.103031211G>C	ExAC,gnomAD
COL11A1	P12107	p.Ala231Val	rs1340828110	missense variant	-	NC_000001.11:g.103031204G>A	gnomAD
COL11A1	P12107	p.Tyr233Cys	RCV000287951	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103031198T>C	ClinVar
COL11A1	P12107	p.Tyr233Cys	RCV000403940	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103031198T>C	ClinVar
COL11A1	P12107	p.Tyr233Cys	RCV000347544	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103031198T>C	ClinVar
COL11A1	P12107	p.Tyr233Phe	rs141304474	missense variant	-	NC_000001.11:g.103031198T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Tyr233Cys	rs141304474	missense variant	-	NC_000001.11:g.103031198T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp234Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103031196C>T	NCI-TCGA
COL11A1	P12107	p.Asp234Tyr	rs1369168022	missense variant	-	NC_000001.11:g.103031196C>A	gnomAD
COL11A1	P12107	p.Asp234Glu	rs1293638003	missense variant	-	NC_000001.11:g.103031194G>C	gnomAD
COL11A1	P12107	p.Tyr235Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103031191G>T	NCI-TCGA
COL11A1	P12107	p.Tyr235Ser	rs1461000076	missense variant	-	NC_000001.11:g.103031192T>G	gnomAD
COL11A1	P12107	p.Cys236Ser	rs565405677	missense variant	-	NC_000001.11:g.103031190A>T	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Glu237Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103031185C>G	NCI-TCGA
COL11A1	P12107	p.His238Tyr	rs758668137	missense variant	-	NC_000001.11:g.103031184G>A	ExAC,gnomAD
COL11A1	P12107	p.Tyr239Cys	rs753536197	missense variant	-	NC_000001.11:g.103031180T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser240Ile	rs1174962553	missense variant	-	NC_000001.11:g.103031177C>A	gnomAD
COL11A1	P12107	p.Ser240Ile	rs1174962553	missense variant	-	NC_000001.11:g.103031177C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser240Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103031178T>C	NCI-TCGA
COL11A1	P12107	p.Pro241Leu	rs1268624324	missense variant	-	NC_000001.11:g.103031174G>A	gnomAD
COL11A1	P12107	p.Pro241Ser	rs1435390186	missense variant	-	NC_000001.11:g.103031175G>A	gnomAD
COL11A1	P12107	p.Asp242Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103031172C>T	NCI-TCGA
COL11A1	P12107	p.Cys243Phe	COSM893167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103031168C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala247Val	rs773180523	missense variant	-	NC_000001.11:g.103031156G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro248Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103031154G>C	NCI-TCGA
COL11A1	P12107	p.Pro248Ser	rs766981236	missense variant	-	NC_000001.11:g.103031154G>A	ExAC
COL11A1	P12107	p.Lys249Thr	rs1234822823	missense variant	-	NC_000001.11:g.103031150T>G	gnomAD
COL11A1	P12107	p.Lys249Asn	rs1199504042	missense variant	-	NC_000001.11:g.103031149C>G	TOPMed,gnomAD
COL11A1	P12107	p.Ala250Ser	rs761377174	missense variant	-	NC_000001.11:g.103031148C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala251Pro	rs1221655800	missense variant	-	NC_000001.11:g.103031145C>G	gnomAD
COL11A1	P12107	p.Ala251Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103031145C>A	NCI-TCGA
COL11A1	P12107	p.Gln252Glu	rs1313902113	missense variant	-	NC_000001.11:g.103031142G>C	gnomAD
COL11A1	P12107	p.Ala253Val	COSM1332168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103031138G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala253Thr	rs1373935029	missense variant	-	NC_000001.11:g.103031139C>T	TOPMed
COL11A1	P12107	p.Glu255Lys	rs768132080	missense variant	-	NC_000001.11:g.103031133C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro256Arg	rs1045561209	missense variant	-	NC_000001.11:g.103031129G>C	TOPMed,gnomAD
COL11A1	P12107	p.Pro256Leu	rs1045561209	missense variant	-	NC_000001.11:g.103031129G>A	TOPMed,gnomAD
COL11A1	P12107	p.Glu260Ala	rs1392566303	missense variant	-	NC_000001.11:g.103031117T>G	TOPMed
COL11A1	P12107	p.Tyr261His	rs747550115	missense variant	-	NC_000001.11:g.103026332A>G	ExAC,gnomAD
COL11A1	P12107	p.Tyr261Cys	rs1204523782	missense variant	-	NC_000001.11:g.103026331T>C	TOPMed,gnomAD
COL11A1	P12107	p.Ala262Thr	rs777664906	missense variant	-	NC_000001.11:g.103026329C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala262Val	rs1465957578	missense variant	-	NC_000001.11:g.103026328G>A	TOPMed
COL11A1	P12107	p.Pro263Ser	rs372319750	missense variant	-	NC_000001.11:g.103026326G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro263Thr	rs372319750	missense variant	-	NC_000001.11:g.103026326G>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu264Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103026323C>T	NCI-TCGA
COL11A1	P12107	p.Glu264Gln	rs779259676	missense variant	-	NC_000001.11:g.103026323C>G	ExAC,gnomAD
COL11A1	P12107	p.Ile267Met	rs780965578	missense variant	-	NC_000001.11:g.103026312G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu268Val	rs544563259	missense variant	-	NC_000001.11:g.103026310T>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Glu268Lys	rs1341498364	missense variant	-	NC_000001.11:g.103026311C>T	gnomAD
COL11A1	P12107	p.Asp270Glu	rs1384158012	missense variant	-	NC_000001.11:g.103026303G>C	gnomAD
COL11A1	P12107	p.Tyr271Ser	COSM1332167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103026301T>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Tyr271Cys	rs1342951616	missense variant	-	NC_000001.11:g.103026301T>C	gnomAD
COL11A1	P12107	p.Glu272Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103026297C>A	NCI-TCGA
COL11A1	P12107	p.Tyr273Asn	rs1303095330	missense variant	-	NC_000001.11:g.103026296A>T	TOPMed
COL11A1	P12107	p.Tyr273Cys	rs763484552	missense variant	-	NC_000001.11:g.103026295T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly274Arg	rs139373584	missense variant	-	NC_000001.11:g.103026293C>T	ESP
COL11A1	P12107	p.Gly274Ala	rs762593527	missense variant	-	NC_000001.11:g.103026292C>G	ExAC,gnomAD
COL11A1	P12107	p.Glu275Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103026287_103026288insCAATAACTGTGATTTTTA	NCI-TCGA
COL11A1	P12107	p.Glu275GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103026289_103026290insC	NCI-TCGA
COL11A1	P12107	p.Glu275Lys	rs752280931	missense variant	-	NC_000001.11:g.103026290C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu277Lys	COSM1248741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103026284C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu277Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103026282C>A	NCI-TCGA
COL11A1	P12107	p.Tyr278His	rs1372677796	missense variant	-	NC_000001.11:g.103026281A>G	gnomAD
COL11A1	P12107	p.Tyr278Phe	rs532957604	missense variant	-	NC_000001.11:g.103026280T>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Glu280Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103026275C>A	NCI-TCGA
COL11A1	P12107	p.Glu280Lys	rs1476686839	missense variant	-	NC_000001.11:g.103026275C>T	gnomAD
COL11A1	P12107	p.Glu280Asp	rs777095769	missense variant	-	NC_000001.11:g.103026273C>A	ExAC,gnomAD
COL11A1	P12107	p.Glu282Gly	RCV000321904	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103026268T>C	ClinVar
COL11A1	P12107	p.Glu282Gly	RCV000280459	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103026268T>C	ClinVar
COL11A1	P12107	p.Glu282Gly	RCV000376489	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103026268T>C	ClinVar
COL11A1	P12107	p.Glu282Gly	rs199539580	missense variant	-	NC_000001.11:g.103026268T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser283Asn	rs761240045	missense variant	-	NC_000001.11:g.103026265C>T	ExAC,gnomAD
COL11A1	P12107	p.Ser283Arg	rs773807930	missense variant	-	NC_000001.11:g.103026264A>T	ExAC,gnomAD
COL11A1	P12107	p.Val284Leu	rs772038407	missense variant	-	NC_000001.11:g.103026263C>A	ExAC,gnomAD
COL11A1	P12107	p.Thr285Arg	rs1356653753	missense variant	-	NC_000001.11:g.103026259G>C	gnomAD
COL11A1	P12107	p.Gly287Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103026253C>T	NCI-TCGA
COL11A1	P12107	p.Gly287Val	rs1425451978	missense variant	-	NC_000001.11:g.103026253C>A	gnomAD
COL11A1	P12107	p.Pro288Thr	rs748315186	missense variant	-	NC_000001.11:g.103026251G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr289Ile	rs1225702213	missense variant	-	NC_000001.11:g.103026247G>A	TOPMed,gnomAD
COL11A1	P12107	p.Val290Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103026244A>G	NCI-TCGA
COL11A1	P12107	p.Thr291Ala	rs778869762	missense variant	-	NC_000001.11:g.103026242T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu293Gln	COSM674564	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103026236C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu293Asp	rs749538662	missense variant	-	NC_000001.11:g.103026234C>A	ExAC,gnomAD
COL11A1	P12107	p.Ala296Gly	COSM6057190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103026226G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln297His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103026222C>A	NCI-TCGA
COL11A1	P12107	p.Gln297Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103026223T>A	NCI-TCGA
COL11A1	P12107	p.Thr298Met	RCV000079909	missense variant	-	NC_000001.11:g.103026220G>A	ClinVar
COL11A1	P12107	p.Thr298Met	rs398123652	missense variant	-	NC_000001.11:g.103026220G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr298Ala	rs144966407	missense variant	-	NC_000001.11:g.103026221T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn301Lys	rs112484990	missense variant	-	NC_000001.11:g.103025608G>T	ExAC,gnomAD
COL11A1	P12107	p.Ile302Val	rs75824519	missense variant	-	NC_000001.11:g.103025607T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile302Val	RCV000607480	missense variant	-	NC_000001.11:g.103025607T>C	ClinVar
COL11A1	P12107	p.Val303Ala	rs758803832	missense variant	-	NC_000001.11:g.103025603A>G	ExAC,gnomAD
COL11A1	P12107	p.Val303Ile	rs369925361	missense variant	-	NC_000001.11:g.103025604C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp304Val	rs748683069	missense variant	-	NC_000001.11:g.103025600T>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp304Gly	rs748683069	missense variant	-	NC_000001.11:g.103025600T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp305Tyr	rs779346604	missense variant	-	NC_000001.11:g.103025598C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe306Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103025595A>C	NCI-TCGA
COL11A1	P12107	p.Glu308Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103025587T>G	NCI-TCGA
COL11A1	P12107	p.Glu308Gly	rs753793345	missense variant	-	NC_000001.11:g.103025588T>C	ExAC,gnomAD
COL11A1	P12107	p.Tyr309Cys	COSM4759640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103025585T>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Tyr309Phe	RCV000368199	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103025585T>A	ClinVar
COL11A1	P12107	p.Tyr309Phe	rs766508371	missense variant	-	NC_000001.11:g.103025585T>A	ExAC,gnomAD
COL11A1	P12107	p.Tyr309Phe	RCV000309423	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103025585T>A	ClinVar
COL11A1	P12107	p.Tyr309Phe	RCV000273015	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103025585T>A	ClinVar
COL11A1	P12107	p.Asn310His	rs201305757	missense variant	-	NC_000001.11:g.103025583T>G	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Asn310Ser	rs763947443	missense variant	-	NC_000001.11:g.103025582T>C	ExAC,gnomAD
COL11A1	P12107	p.Ser316Asn	rs765019834	missense variant	-	NC_000001.11:g.103025564C>T	ExAC,gnomAD
COL11A1	P12107	p.Ser316Gly	rs369794634	missense variant	-	NC_000001.11:g.103025565T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu320Asp	rs1374215100	missense variant	-	NC_000001.11:g.103025551T>G	gnomAD
COL11A1	P12107	p.Ala321Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103025549G>A	NCI-TCGA
COL11A1	P12107	p.Pro322Leu	RCV000179833	missense variant	-	NC_000001.11:g.103025546G>A	ClinVar
COL11A1	P12107	p.Pro322Leu	rs183130583	missense variant	-	NC_000001.11:g.103025546G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg323Lys	rs1448065580	missense variant	-	NC_000001.11:g.103025543C>T	gnomAD
COL11A1	P12107	p.His324Arg	rs770480017	missense variant	-	NC_000001.11:g.103025540T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val325Phe	rs746633493	missense variant	-	NC_000001.11:g.103025538C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val325Phe	RCV000486656	missense variant	-	NC_000001.11:g.103025538C>A	ClinVar
COL11A1	P12107	p.Ser326Phe	COSM1332164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103025534G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly327Glu	COSM280024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103025531C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly327Arg	rs772411526	missense variant	-	NC_000001.11:g.103025532C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly327Trp	rs772411526	missense variant	-	NC_000001.11:g.103025532C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr328Ile	rs1157354380	missense variant	-	NC_000001.11:g.103025528G>A	TOPMed
COL11A1	P12107	p.Asn329Ser	rs748401896	missense variant	-	NC_000001.11:g.103025525T>C	ExAC,gnomAD
COL11A1	P12107	p.Glu330Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103025523C>A	NCI-TCGA
COL11A1	P12107	p.Glu330Gln	rs779339225	missense variant	-	NC_000001.11:g.103025523C>G	ExAC,gnomAD
COL11A1	P12107	p.Pro331Gln	rs148978696	missense variant	-	NC_000001.11:g.103022995G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro331Leu	rs148978696	missense variant	-	NC_000001.11:g.103022995G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro331Thr	rs767032677	missense variant	-	NC_000001.11:g.103022996G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro331Ser	rs767032677	missense variant	-	NC_000001.11:g.103022996G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn332Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022992T>G	NCI-TCGA
COL11A1	P12107	p.Pro333Thr	rs768894797	missense variant	-	NC_000001.11:g.103022990G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro333Ala	rs768894797	missense variant	-	NC_000001.11:g.103022990G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val334Ile	COSM4827531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022987C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Val334Gly	rs763322647	missense variant	-	NC_000001.11:g.103022986A>C	ExAC,gnomAD
COL11A1	P12107	p.Glu335Ter	RCV000778931	nonsense	COL11A1-Related Disorders	NC_000001.11:g.103022984C>A	ClinVar
COL11A1	P12107	p.Glu335Ter	rs776004614	stop gained	-	NC_000001.11:g.103022984C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu336Ter	COSM1332154	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103022981C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu336Lys	COSM3862069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022981C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu336Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022981C>G	NCI-TCGA
COL11A1	P12107	p.Ile337Val	rs746403396	missense variant	-	NC_000001.11:g.103022978T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile337Leu	rs746403396	missense variant	-	NC_000001.11:g.103022978T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe338Leu	rs771083986	missense variant	-	NC_000001.11:g.103022973A>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu341Gln	RCV000342973	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103022966C>G	ClinVar
COL11A1	P12107	p.Glu341Gln	RCV000401943	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103022966C>G	ClinVar
COL11A1	P12107	p.Glu341Gln	RCV000302249	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103022966C>G	ClinVar
COL11A1	P12107	p.Glu341Gln	rs144884147	missense variant	-	NC_000001.11:g.103022966C>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu341Lys	rs144884147	missense variant	-	NC_000001.11:g.103022966C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Tyr342Cys	rs1257791806	missense variant	-	NC_000001.11:g.103022962T>C	gnomAD
COL11A1	P12107	p.Thr344Met	rs544289862	missense variant	-	NC_000001.11:g.103022956G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr344Arg	rs544289862	missense variant	-	NC_000001.11:g.103022956G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly345Ter	COSM674566	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103022954C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly345Arg	rs532060501	missense variant	-	NC_000001.11:g.103022954C>T	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Glu346Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022951C>T	NCI-TCGA
COL11A1	P12107	p.Asp347Asn	RCV000413695	missense variant	-	NC_000001.11:g.103022948C>T	ClinVar
COL11A1	P12107	p.Asp347Asn	rs199942159	missense variant	-	NC_000001.11:g.103022948C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Tyr348Asp	COSM1332152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022945A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Tyr348Phe	rs539811607	missense variant	-	NC_000001.11:g.103022944T>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Asp349Asn	COSM893160	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022942C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln351Arg	RCV000658520	missense variant	-	NC_000001.11:g.103022935T>C	ClinVar
COL11A1	P12107	p.Gln351Arg	rs751155680	missense variant	-	NC_000001.11:g.103022935T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gln351Lys	rs761451204	missense variant	-	NC_000001.11:g.103022936G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg352Lys	rs763739377	missense variant	-	NC_000001.11:g.103022932C>T	ExAC,gnomAD
COL11A1	P12107	p.Arg352Trp	rs1402379236	missense variant	-	NC_000001.11:g.103022933T>A	TOPMed,gnomAD
COL11A1	P12107	p.Lys353Asn	rs572826781	missense variant	-	NC_000001.11:g.103022928T>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn354His	rs770334750	missense variant	-	NC_000001.11:g.103022927T>G	ExAC,gnomAD
COL11A1	P12107	p.Asn354Lys	rs1454471028	missense variant	-	NC_000001.11:g.103022925A>T	gnomAD
COL11A1	P12107	p.Ser355Pro	RCV000523042	missense variant	-	NC_000001.11:g.103022924A>G	ClinVar
COL11A1	P12107	p.Ser355Ala	rs141036911	missense variant	-	NC_000001.11:g.103022924A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser355Pro	rs141036911	missense variant	-	NC_000001.11:g.103022924A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp357Val	rs777344924	missense variant	-	NC_000001.11:g.103022917T>A	ExAC,gnomAD
COL11A1	P12107	p.Asp357Asn	rs982348012	missense variant	-	NC_000001.11:g.103022918C>T	TOPMed,gnomAD
COL11A1	P12107	p.Asp357Tyr	rs982348012	missense variant	-	NC_000001.11:g.103022918C>A	TOPMed,gnomAD
COL11A1	P12107	p.Thr358Ile	rs1259798847	missense variant	-	NC_000001.11:g.103022914G>A	TOPMed
COL11A1	P12107	p.Tyr360Cys	rs1274389470	missense variant	-	NC_000001.11:g.103022908T>C	gnomAD
COL11A1	P12107	p.Glu361Lys	COSM3470510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022906C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu361Gly	rs372451206	missense variant	-	NC_000001.11:g.103022905T>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn362Lys	rs1343007998	missense variant	-	NC_000001.11:g.103022901G>T	gnomAD
COL11A1	P12107	p.Lys363Arg	rs1197650713	missense variant	-	NC_000001.11:g.103022899T>C	TOPMed
COL11A1	P12107	p.Lys363Glu	rs1276719478	missense variant	-	NC_000001.11:g.103022900T>C	gnomAD
COL11A1	P12107	p.Glu364Lys	rs747054416	missense variant	-	NC_000001.11:g.103022897C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp366Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022891C>A	NCI-TCGA
COL11A1	P12107	p.Asp366Asn	rs773168949	missense variant	-	NC_000001.11:g.103022891C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly367Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022888C>G	NCI-TCGA
COL11A1	P12107	p.Gly367Asp	rs1402186540	missense variant	-	NC_000001.11:g.103022887C>T	TOPMed,gnomAD
COL11A1	P12107	p.Gly367Ser	rs748391176	missense variant	-	NC_000001.11:g.103022888C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp369Val	rs1413811284	missense variant	-	NC_000001.11:g.103022881T>A	gnomAD
COL11A1	P12107	p.Ser370Ala	rs1399933424	missense variant	-	NC_000001.11:g.103022879A>C	gnomAD
COL11A1	P12107	p.Leu373Pro	rs1173831707	missense variant	-	NC_000001.11:g.103022869A>G	gnomAD
COL11A1	P12107	p.Gly376Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022860C>T	NCI-TCGA
COL11A1	P12107	p.Asp377Tyr	rs376421641	missense variant	-	NC_000001.11:g.103022858C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly379Ser	rs938210307	missense variant	-	NC_000001.11:g.103022852C>T	TOPMed,gnomAD
COL11A1	P12107	p.Glu380Lys	rs372387693	missense variant	-	NC_000001.11:g.103022849C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp382Asn	COSM4522786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022843C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp382Gly	COSM6057191	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022842T>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Phe383Ile	rs368746938	missense variant	-	NC_000001.11:g.103022840A>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Tyr384Asp	rs763539687	missense variant	-	NC_000001.11:g.103022837A>C	ExAC,gnomAD
COL11A1	P12107	p.Glu385Asp	RCV000432887	missense variant	-	NC_000001.11:g.103022832T>G	ClinVar
COL11A1	P12107	p.Glu385Asp	rs1057524404	missense variant	-	NC_000001.11:g.103022832T>G	-
COL11A1	P12107	p.Tyr386His	rs1293073813	missense variant	-	NC_000001.11:g.103022831A>G	TOPMed
COL11A1	P12107	p.Tyr389Cys	rs758105737	missense variant	-	NC_000001.11:g.103022821T>C	ExAC,gnomAD
COL11A1	P12107	p.Tyr389His	COSM4392310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022822A>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu390Gly	rs139480042	missense variant	-	NC_000001.11:g.103022818T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro393Leu	rs1217569493	missense variant	-	NC_000001.11:g.103022809G>A	TOPMed
COL11A1	P12107	p.Pro393Thr	rs556692411	missense variant	-	NC_000001.11:g.103022810G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr394Ala	RCV000282658	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103022807T>C	ClinVar
COL11A1	P12107	p.Thr394Ala	RCV000372323	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103022807T>C	ClinVar
COL11A1	P12107	p.Thr394Ala	RCV000337630	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103022807T>C	ClinVar
COL11A1	P12107	p.Thr394Ala	rs538837278	missense variant	-	NC_000001.11:g.103022807T>C	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Thr394Lys	rs1279958827	missense variant	-	NC_000001.11:g.103022806G>T	gnomAD
COL11A1	P12107	p.Ser395Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022804T>A	NCI-TCGA
COL11A1	P12107	p.Ser395Asn	rs146246643	missense variant	-	NC_000001.11:g.103022803C>T	ESP,ExAC,gnomAD
COL11A1	P12107	p.Pro397Ter	RCV000658261	frameshift	-	NC_000001.11:g.103022802dup	ClinVar
COL11A1	P12107	p.Pro397LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103022797G>-	NCI-TCGA
COL11A1	P12107	p.Pro397Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022798G>A	NCI-TCGA
COL11A1	P12107	p.Pro397Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022798G>T	NCI-TCGA
COL11A1	P12107	p.Pro397Ala	rs761114814	missense variant	-	NC_000001.11:g.103022798G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn398Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103022796_103022797insG	NCI-TCGA
COL11A1	P12107	p.Asn398Lys	rs1245661989	missense variant	-	NC_000001.11:g.103022793A>T	TOPMed
COL11A1	P12107	p.Glu400Gln	COSM3788355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022789C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Phe401Leu	RCV000294393	missense variant	-	NC_000001.11:g.103022786A>G	ClinVar
COL11A1	P12107	p.Phe401Ile	RCV000432780	missense variant	-	NC_000001.11:g.103022786A>T	ClinVar
COL11A1	P12107	p.Phe401Ile	RCV000726651	missense variant	-	NC_000001.11:g.103022786A>T	ClinVar
COL11A1	P12107	p.Phe401Ile	rs141817156	missense variant	-	NC_000001.11:g.103022786A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe401Leu	rs141817156	missense variant	-	NC_000001.11:g.103022786A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly402Val	COSM6120244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022782C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly402Arg	rs1359322452	missense variant	-	NC_000001.11:g.103022783C>G	gnomAD
COL11A1	P12107	p.Pro403Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103022780G>T	NCI-TCGA
COL11A1	P12107	p.Gly404Asp	rs748335883	missense variant	-	NC_000001.11:g.103022776C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly404Ser	rs1156500992	missense variant	-	NC_000001.11:g.103022777C>T	TOPMed,gnomAD
COL11A1	P12107	p.Val405Leu	rs1408198066	missense variant	-	NC_000001.11:g.103022774C>A	gnomAD
COL11A1	P12107	p.Ala407Glu	rs1164266273	missense variant	-	NC_000001.11:g.103022767G>T	TOPMed
COL11A1	P12107	p.Glu408Asp	rs769561146	missense variant	-	NC_000001.11:g.103022763T>G	ExAC,gnomAD
COL11A1	P12107	p.Thr412Ile	rs559031290	missense variant	-	NC_000001.11:g.103022752G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu413Lys	COSM3788353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022750C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu413Asp	rs757172350	missense variant	-	NC_000001.11:g.103022748T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr414Ile	rs746973105	missense variant	-	NC_000001.11:g.103022746G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser415Asn	rs777310574	missense variant	-	NC_000001.11:g.103022743C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser415Cys	rs1317769823	missense variant	-	NC_000001.11:g.103022744T>A	gnomAD
COL11A1	P12107	p.Ser415Arg	rs371490794	missense variant	-	NC_000001.11:g.103022742G>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser415Arg	rs371490794	missense variant	-	NC_000001.11:g.103022742G>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.His419Arg	rs1429243291	missense variant	-	NC_000001.11:g.103021759T>C	gnomAD
COL11A1	P12107	p.Gly420Cys	COSM3399496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103021757C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly420Val	rs1424505913	missense variant	-	NC_000001.11:g.103021756C>A	gnomAD
COL11A1	P12107	p.Ala421Thr	rs763208504	missense variant	-	NC_000001.11:g.103021754C>T	ExAC,gnomAD
COL11A1	P12107	p.Ala421Val	rs775644641	missense variant	-	NC_000001.11:g.103021753G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly423Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103021747C>T	NCI-TCGA
COL11A1	P12107	p.Gly423Arg	rs1437115397	missense variant	-	NC_000001.11:g.103021748C>T	TOPMed
COL11A1	P12107	p.Glu424Lys	rs1199511230	missense variant	-	NC_000001.11:g.103021745C>T	TOPMed
COL11A1	P12107	p.Gln427His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103021734C>A	NCI-TCGA
COL11A1	P12107	p.Gln427Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103021735T>G	NCI-TCGA
COL11A1	P12107	p.Gln427His	rs1479331871	missense variant	-	NC_000001.11:g.103021734C>G	TOPMed
COL11A1	P12107	p.Gly429Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103021729C>G	NCI-TCGA
COL11A1	P12107	p.Gly429Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103021730C>T	NCI-TCGA
COL11A1	P12107	p.Gly429Val	rs541227218	missense variant	-	NC_000001.11:g.103021729C>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Pro431Gln	rs778541934	missense variant	-	NC_000001.11:g.103021723G>T	NCI-TCGA
COL11A1	P12107	p.Pro431Gln	rs778541934	missense variant	-	NC_000001.11:g.103021723G>T	ExAC,gnomAD
COL11A1	P12107	p.Pro431Ser	rs748116360	missense variant	-	NC_000001.11:g.103021724G>A	ExAC,gnomAD
COL11A1	P12107	p.Ala432Gly	COSM6057193	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103021720G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Val434Phe	rs1423868983	missense variant	-	NC_000001.11:g.103021715C>A	NCI-TCGA
COL11A1	P12107	p.Val434Phe	rs1423868983	missense variant	-	NC_000001.11:g.103021715C>A	TOPMed
COL11A1	P12107	p.Val434Ala	rs779627216	missense variant	-	NC_000001.11:g.103021714A>G	ExAC,gnomAD
COL11A1	P12107	p.Val434Asp	rs779627216	missense variant	-	NC_000001.11:g.103021714A>T	ExAC,gnomAD
COL11A1	P12107	p.Pro436His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103021708G>T	NCI-TCGA
COL11A1	P12107	p.Pro436Ser	rs1372744350	missense variant	-	NC_000001.11:g.103021709G>A	gnomAD
COL11A1	P12107	p.Met438Val	rs775067018	missense variant	-	NC_000001.11:g.103018856T>C	ExAC,gnomAD
COL11A1	P12107	p.Val440Gly	COSM280023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103018849A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Val440Ile	rs769288910	missense variant	-	NC_000001.11:g.103018850C>T	ExAC,gnomAD
COL11A1	P12107	p.Val440Ala	rs1161044163	missense variant	-	NC_000001.11:g.103018849A>G	gnomAD
COL11A1	P12107	p.Glu441Asp	COSM6057195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103018845T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu441Lys	rs995254814	missense variant	-	NC_000001.11:g.103018847C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu441Lys	rs995254814	missense variant	-	NC_000001.11:g.103018847C>T	TOPMed,gnomAD
COL11A1	P12107	p.Gly442Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103018844C>T	NCI-TCGA
COL11A1	P12107	p.Pro443Leu	rs757688496	missense variant	-	NC_000001.11:g.103018840G>A	ExAC,gnomAD
COL11A1	P12107	p.Gly445Ter	COSM893154	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103018835C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro446Leu	rs899354986	missense variant	-	NC_000001.11:g.103018831G>A	TOPMed,gnomAD
COL11A1	P12107	p.Ala447Thr	COSM5124258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103018829C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala447Val	rs1215196763	missense variant	-	NC_000001.11:g.103018828G>A	gnomAD
COL11A1	P12107	p.Pro449Thr	rs1262054654	missense variant	-	NC_000001.11:g.103018823G>T	TOPMed,gnomAD
COL11A1	P12107	p.Ala450Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103018820C>T	NCI-TCGA
COL11A1	P12107	p.Ile452Phe	rs778826691	missense variant	-	NC_000001.11:g.103017879T>A	ExAC,gnomAD
COL11A1	P12107	p.Met453Ile	COSM674576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103017874C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Met453Ile	rs755173952	missense variant	-	NC_000001.11:g.103017874C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Met453Ile	RCV000264810	missense variant	-	NC_000001.11:g.103017874C>T	ClinVar
COL11A1	P12107	p.Pro455Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103017870G>T	NCI-TCGA
COL11A1	P12107	p.Pro455Ser	rs1462597589	missense variant	-	NC_000001.11:g.103017870G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro455Ser	rs1462597589	missense variant	-	NC_000001.11:g.103017870G>A	TOPMed
COL11A1	P12107	p.Pro456Leu	rs754099465	missense variant	-	NC_000001.11:g.103017866G>A	ExAC,gnomAD
COL11A1	P12107	p.Gly457Asp	rs746336238	missense variant	-	NC_000001.11:g.103017863C>T	NCI-TCGA
COL11A1	P12107	p.Gly457Asp	rs746336238	missense variant	-	NC_000001.11:g.103017863C>T	-
COL11A1	P12107	p.Leu458Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103017861G>T	NCI-TCGA
COL11A1	P12107	p.Leu458Pro	rs1163371289	missense variant	-	NC_000001.11:g.103017860A>G	TOPMed
COL11A1	P12107	p.Pro461Ser	COSM3470508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103017852G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr462Ser	rs751356715	missense variant	-	NC_000001.11:g.103017848G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly463Val	rs1475867666	missense variant	-	NC_000001.11:g.103017845C>A	gnomAD
COL11A1	P12107	p.Pro464His	rs1193227657	missense variant	-	NC_000001.11:g.103017842G>T	gnomAD
COL11A1	P12107	p.Pro465Thr	rs1250694021	missense variant	-	NC_000001.11:g.103017840G>T	TOPMed,gnomAD
COL11A1	P12107	p.Pro465Ala	rs1250694021	missense variant	-	NC_000001.11:g.103017840G>C	TOPMed,gnomAD
COL11A1	P12107	p.Pro465Ser	rs1250694021	missense variant	-	NC_000001.11:g.103017840G>A	TOPMed,gnomAD
COL11A1	P12107	p.Asp467Val	COSM674578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103017833T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly469Asp	COSM893152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103017827C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp470His	rs752749747	missense variant	-	NC_000001.11:g.103017825C>G	NCI-TCGA
COL11A1	P12107	p.Asp470Asn	rs752749747	missense variant	-	NC_000001.11:g.103017825C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp470Glu	rs529233816	missense variant	-	NC_000001.11:g.103017823A>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp470His	rs752749747	missense variant	-	NC_000001.11:g.103017825C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg471Gly	rs1342033027	missense variant	-	NC_000001.11:g.103017822T>C	gnomAD
COL11A1	P12107	p.Pro473Ala	rs1180040869	missense variant	-	NC_000001.11:g.103015739G>C	gnomAD
COL11A1	P12107	p.Pro473Thr	rs1180040869	missense variant	-	NC_000001.11:g.103015739G>T	gnomAD
COL11A1	P12107	p.Pro473Leu	rs1440070692	missense variant	-	NC_000001.11:g.103015738G>A	TOPMed,gnomAD
COL11A1	P12107	p.Pro474GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103015735G>-	NCI-TCGA
COL11A1	P12107	p.Gly475Ala	COSM6120246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015732C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg476His	RCV000275597	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103015729C>T	ClinVar
COL11A1	P12107	p.Arg476His	RCV000384187	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103015729C>T	ClinVar
COL11A1	P12107	p.Arg476His	RCV000330638	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103015729C>T	ClinVar
COL11A1	P12107	p.Arg476His	rs149558726	missense variant	-	NC_000001.11:g.103015729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg476Cys	rs756352775	missense variant	-	NC_000001.11:g.103015730G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly478Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103015723C>G	NCI-TCGA
COL11A1	P12107	p.Pro480Gln	COSM6057199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015717G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro480Ser	rs777428839	missense variant	-	NC_000001.11:g.103015718G>A	ExAC,gnomAD
COL11A1	P12107	p.Gly481Glu	COSM3470506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015714C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala482Ser	COSM4927848	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015712C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala482Thr	RCV000494606	missense variant	-	NC_000001.11:g.103015712C>T	ClinVar
COL11A1	P12107	p.Ala482Thr	rs150428394	missense variant	-	NC_000001.11:g.103015712C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Leu485Ile	rs536428525	missense variant	-	NC_000001.11:g.103015703G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro486Ser	rs1329454071	missense variant	-	NC_000001.11:g.103015700G>A	gnomAD
COL11A1	P12107	p.Pro486His	rs759501106	missense variant	-	NC_000001.11:g.103015699G>T	ExAC,gnomAD
COL11A1	P12107	p.Gly487Val	COSM674580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015696C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro488Ser	rs376520473	missense variant	-	NC_000001.11:g.103015694G>A	ESP,ExAC,gnomAD
COL11A1	P12107	p.Pro488Arg	rs569475666	missense variant	-	NC_000001.11:g.103015693G>C	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Met492Val	rs1434967428	missense variant	-	NC_000001.11:g.103015682T>C	gnomAD
COL11A1	P12107	p.Met494Ile	rs1379241829	missense variant	-	NC_000001.11:g.103015674C>T	gnomAD
COL11A1	P12107	p.Pro496Ala	rs1157193227	missense variant	-	NC_000001.11:g.103015670G>C	gnomAD
COL11A1	P12107	p.Pro496Leu	rs371793829	missense variant	-	NC_000001.11:g.103015669G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe497Leu	rs755704308	missense variant	-	NC_000001.11:g.103014592G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg498His	rs545363972	missense variant	-	NC_000001.11:g.103014590C>T	NCI-TCGA
COL11A1	P12107	p.Arg498Cys	rs1186482291	missense variant	-	NC_000001.11:g.103014591G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg498Cys	rs1186482291	missense variant	-	NC_000001.11:g.103014591G>A	TOPMed
COL11A1	P12107	p.Arg498His	rs545363972	missense variant	-	NC_000001.11:g.103014590C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Tyr499Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103014588A>T	NCI-TCGA
COL11A1	P12107	p.Tyr499Ser	rs147920779	missense variant	-	NC_000001.11:g.103014587T>G	ESP,ExAC,gnomAD
COL11A1	P12107	p.Gly501Ser	rs1181934550	missense variant	-	NC_000001.11:g.103014582C>T	TOPMed
COL11A1	P12107	p.Asp502Tyr	rs1212773301	missense variant	-	NC_000001.11:g.103014579C>A	TOPMed,gnomAD
COL11A1	P12107	p.Ser504Phe	rs1295045136	missense variant	-	NC_000001.11:g.103014572G>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly506Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103014566C>G	NCI-TCGA
COL11A1	P12107	p.Pro507Gln	rs764601491	missense variant	-	NC_000001.11:g.103014563G>T	ExAC,gnomAD
COL11A1	P12107	p.Thr508Ala	RCV000659310	missense variant	Connective tissue disorder	NC_000001.11:g.103014561T>C	ClinVar
COL11A1	P12107	p.Thr508Ala	rs55851925	missense variant	-	NC_000001.11:g.103014561T>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr508Ile	rs1432496942	missense variant	-	NC_000001.11:g.103014560G>A	TOPMed,gnomAD
COL11A1	P12107	p.Ile509SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103014559G>-	NCI-TCGA
COL11A1	P12107	p.Gln512Arg	rs1192930581	missense variant	-	NC_000001.11:g.103014548T>C	gnomAD
COL11A1	P12107	p.Glu513Gln	RCV000513169	missense variant	-	NC_000001.11:g.103014546C>G	ClinVar
COL11A1	P12107	p.Glu513Gln	rs1288240581	missense variant	-	NC_000001.11:g.103014546C>G	TOPMed
COL11A1	P12107	p.Glu513Lys	rs1288240581	missense variant	-	NC_000001.11:g.103014546C>T	TOPMed
COL11A1	P12107	p.Ala514Thr	COSM5131019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103014543C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala514Val	rs374636016	missense variant	-	NC_000001.11:g.103014542G>A	ESP,TOPMed,gnomAD
COL11A1	P12107	p.Gln515Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103014540G>A	NCI-TCGA
COL11A1	P12107	p.Gln517Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103014534G>C	NCI-TCGA
COL11A1	P12107	p.Gln517Ter	rs1397407558	stop gained	-	NC_000001.11:g.103014534G>A	gnomAD
COL11A1	P12107	p.Ala518Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103014530G>T	NCI-TCGA
COL11A1	P12107	p.Ala518Thr	rs1479618358	missense variant	-	NC_000001.11:g.103014531C>T	gnomAD
COL11A1	P12107	p.Ile519Val	COSM6057201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103014528T>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu520Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103014525G>T	NCI-TCGA
COL11A1	P12107	p.Gln521His	rs1465214842	missense variant	-	NC_000001.11:g.103014520C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln521His	rs1465214842	missense variant	-	NC_000001.11:g.103014520C>A	gnomAD
COL11A1	P12107	p.Gln521Arg	rs770438816	missense variant	-	NC_000001.11:g.103014521T>C	ExAC,gnomAD
COL11A1	P12107	p.Gln522Lys	rs1417430030	missense variant	-	NC_000001.11:g.103014519G>T	gnomAD
COL11A1	P12107	p.Ala523Asp	rs776610122	missense variant	-	NC_000001.11:g.103014515G>T	ExAC,gnomAD
COL11A1	P12107	p.Ala523Thr	rs148610199	missense variant	-	NC_000001.11:g.103014516C>T	ESP,ExAC,gnomAD
COL11A1	P12107	p.Arg524Trp	rs771139447	missense variant	-	NC_000001.11:g.103014513G>A	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Arg524Gln	rs1045481406	missense variant	-	NC_000001.11:g.103014512C>T	NCI-TCGA
COL11A1	P12107	p.Arg524Gly	RCV000659311	missense variant	Connective tissue disorder	NC_000001.11:g.103014513G>C	ClinVar
COL11A1	P12107	p.Arg524Trp	rs771139447	missense variant	-	NC_000001.11:g.103014513G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg524Gln	rs1045481406	missense variant	-	NC_000001.11:g.103014512C>T	-
COL11A1	P12107	p.Arg524Gly	rs771139447	missense variant	-	NC_000001.11:g.103014513G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala526Thr	rs1391110750	missense variant	-	NC_000001.11:g.103012466C>T	TOPMed,gnomAD
COL11A1	P12107	p.Ala526Val	rs749012508	missense variant	-	NC_000001.11:g.103012465G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala526Ser	rs1391110750	missense variant	-	NC_000001.11:g.103012466C>A	TOPMed,gnomAD
COL11A1	P12107	p.Arg528Ile	rs1455455681	missense variant	-	NC_000001.11:g.103012459C>A	TOPMed
COL11A1	P12107	p.Gly532Ser	COSM1294635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103012448C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly532Arg	COSM4933947	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103012448C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly532Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103012448C>A	NCI-TCGA
COL11A1	P12107	p.Pro533Leu	rs1443081862	missense variant	-	NC_000001.11:g.103012444G>A	gnomAD
COL11A1	P12107	p.Met534Val	rs1374892742	missense variant	-	NC_000001.11:g.103012442T>C	gnomAD
COL11A1	P12107	p.Thr537Pro	rs1436840107	missense variant	-	NC_000001.11:g.103012433T>G	TOPMed,gnomAD
COL11A1	P12107	p.Arg539Ile	COSM6057203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103012426C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro540Ser	COSM1332145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103012424G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro542His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103012417G>T	NCI-TCGA
COL11A1	P12107	p.Pro542Ser	rs745841296	missense variant	-	NC_000001.11:g.103012418G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val543Ala	rs1323730385	missense variant	-	NC_000001.11:g.103012414A>G	gnomAD
COL11A1	P12107	p.Gly544Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103008516C>A	NCI-TCGA
COL11A1	P12107	p.Gly545Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103008512C>T	NCI-TCGA
COL11A1	P12107	p.Gly545Ala	rs1484664885	missense variant	-	NC_000001.11:g.103008512C>G	TOPMed,gnomAD
COL11A1	P12107	p.Pro546Ala	rs777447423	missense variant	-	NC_000001.11:g.103008510G>C	ExAC,gnomAD
COL11A1	P12107	p.Pro546LeuPheSerTerUnkUnk	COSM1332143	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103008511C>-	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro546AlaPheSerTerUnk	rs779795373	frameshift	-	NC_000001.11:g.103008510_103008511insC	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Pro546His	rs758105888	missense variant	-	NC_000001.11:g.103008509G>T	ExAC,gnomAD
COL11A1	P12107	p.Gly547Val	COSM674588	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103008506C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser548Leu	COSM3862067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103008503G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser548Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103008503G>T	NCI-TCGA
COL11A1	P12107	p.Ser549Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103008500G>A	NCI-TCGA
COL11A1	P12107	p.Lys552Glu	rs1377225041	missense variant	-	NC_000001.11:g.103008492T>C	TOPMed
COL11A1	P12107	p.Glu554Lys	rs1235279532	missense variant	-	NC_000001.11:g.103008486C>T	gnomAD
COL11A1	P12107	p.Ser555LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103008482_103008483insT	NCI-TCGA
COL11A1	P12107	p.Ser555Asn	rs149894788	missense variant	-	NC_000001.11:g.103008482C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp557Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103008476T>C	NCI-TCGA
COL11A1	P12107	p.Asp557Glu	rs536836897	missense variant	-	NC_000001.11:g.103008475A>T	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Pro558Ala	rs755359145	missense variant	-	NC_000001.11:g.103008474G>C	ExAC,gnomAD
COL11A1	P12107	p.Pro560Leu	rs766726398	missense variant	-	NC_000001.11:g.103008467G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro560Ala	rs754241471	missense variant	-	NC_000001.11:g.103008468G>C	ExAC,gnomAD
COL11A1	P12107	p.Gln561Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103008465G>T	NCI-TCGA
COL11A1	P12107	p.Gln561Ter	rs377107722	stop gained	-	NC_000001.11:g.103008465G>A	ESP,ExAC,gnomAD
COL11A1	P12107	p.Gly562Asp	RCV000255656	missense variant	-	NC_000001.11:g.103006314C>T	ClinVar
COL11A1	P12107	p.Gly562Asp	rs886039743	missense variant	-	NC_000001.11:g.103006314C>T	gnomAD
COL11A1	P12107	p.Arg564Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006308C>T	NCI-TCGA
COL11A1	P12107	p.Arg564Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103006309G>A	NCI-TCGA
COL11A1	P12107	p.Arg564Gly	rs776268452	missense variant	-	NC_000001.11:g.103006309G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly565Val	VAR_063675	Missense	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
COL11A1	P12107	p.Val566Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006302A>G	NCI-TCGA
COL11A1	P12107	p.Val566Ile	rs1251543692	missense variant	-	NC_000001.11:g.103006303C>T	gnomAD
COL11A1	P12107	p.Gln567Glu	rs766321454	missense variant	-	NC_000001.11:g.103006300G>C	ExAC,gnomAD
COL11A1	P12107	p.Pro569Leu	rs760689529	missense variant	-	NC_000001.11:g.103006293G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro569Ser	rs1199452562	missense variant	-	NC_000001.11:g.103006294G>A	TOPMed
COL11A1	P12107	p.Pro570His	COSM6120248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103006290G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro570Ser	rs1194226000	missense variant	-	NC_000001.11:g.103006291G>A	TOPMed,gnomAD
COL11A1	P12107	p.Pro572Leu	COSM4831323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103006284G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro572Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006285G>A	NCI-TCGA
COL11A1	P12107	p.Pro572Thr	rs773342979	missense variant	-	NC_000001.11:g.103006285G>T	ExAC,gnomAD
COL11A1	P12107	p.Thr573Lys	rs202011565	missense variant	-	NC_000001.11:g.103006281G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr573Met	rs202011565	missense variant	-	NC_000001.11:g.103006281G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr573Ala	rs560019202	missense variant	-	NC_000001.11:g.103006282T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly574Arg	rs369731391	missense variant	-	NC_000001.11:g.103006279C>T	ESP,TOPMed
COL11A1	P12107	p.Lys575Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006274T>A	NCI-TCGA
COL11A1	P12107	p.Pro576Ser	rs200177450	missense variant	-	NC_000001.11:g.103006273G>A	1000Genomes
COL11A1	P12107	p.Arg579Trp	COSM3470502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103006264T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg579Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006262C>A	NCI-TCGA
COL11A1	P12107	p.Arg579GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103006264T>-	NCI-TCGA
COL11A1	P12107	p.Gly580Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006121C>A	NCI-TCGA
COL11A1	P12107	p.Arg581His	rs769449348	missense variant	-	NC_000001.11:g.103006117C>T	ExAC,gnomAD
COL11A1	P12107	p.Arg581Ser	rs1373294721	missense variant	-	NC_000001.11:g.103006118G>T	TOPMed,gnomAD
COL11A1	P12107	p.Arg581Pro	rs769449348	missense variant	-	NC_000001.11:g.103006117C>G	ExAC,gnomAD
COL11A1	P12107	p.Arg581Leu	rs769449348	missense variant	-	NC_000001.11:g.103006117C>A	ExAC,gnomAD
COL11A1	P12107	p.Arg581Cys	rs1373294721	missense variant	-	NC_000001.11:g.103006118G>A	TOPMed,gnomAD
COL11A1	P12107	p.Arg581His	RCV000415879	missense variant	-	NC_000001.11:g.103006117C>T	ClinVar
COL11A1	P12107	p.Pro582Ser	rs746192125	missense variant	-	NC_000001.11:g.103006115G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly583Arg	rs1157154380	missense variant	-	NC_000001.11:g.103006112C>G	gnomAD
COL11A1	P12107	p.Asp585Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006106C>T	NCI-TCGA
COL11A1	P12107	p.Asp585Gly	rs1313376911	missense variant	-	NC_000001.11:g.103006105T>C	gnomAD
COL11A1	P12107	p.Gly586Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006102C>G	NCI-TCGA
COL11A1	P12107	p.Gly586Arg	rs771320801	missense variant	-	NC_000001.11:g.103006103C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly586Glu	rs1248011229	missense variant	-	NC_000001.11:g.103006102C>T	TOPMed
COL11A1	P12107	p.Gly587Arg	rs747591719	missense variant	-	NC_000001.11:g.103006100C>G	ExAC,gnomAD
COL11A1	P12107	p.Pro591Thr	rs1259922538	missense variant	-	NC_000001.11:g.103006088G>T	gnomAD
COL11A1	P12107	p.Glu593Ter	COSM1332137	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103006082C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro594Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006079G>T	NCI-TCGA
COL11A1	P12107	p.Pro594Ala	rs777713953	missense variant	-	NC_000001.11:g.103006079G>C	ExAC,gnomAD
COL11A1	P12107	p.Ala596Ter	RCV000022494	frameshift	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103006076dup	ClinVar
COL11A1	P12107	p.Ala596Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006073C>A	NCI-TCGA
COL11A1	P12107	p.Ala596Thr	rs758567291	missense variant	-	NC_000001.11:g.103006073C>T	ExAC,gnomAD
COL11A1	P12107	p.Lys597Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103006069T>C	NCI-TCGA
COL11A1	P12107	p.Gly598Glu	rs1213020085	missense variant	-	NC_000001.11:g.103005890C>T	gnomAD
COL11A1	P12107	p.Arg600Ter	COSM4020010	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103005885G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg600Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103005885G>C	NCI-TCGA
COL11A1	P12107	p.Gly601Arg	COSM674592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103005882C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp603Asn	rs1338412988	missense variant	-	NC_000001.11:g.103005876C>T	gnomAD
COL11A1	P12107	p.Gly604Glu	COSM3470498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103005872C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly604Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103005873C>A	NCI-TCGA
COL11A1	P12107	p.Pro606Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103005867G>A	NCI-TCGA
COL11A1	P12107	p.Pro606Leu	rs534777436	missense variant	-	NC_000001.11:g.103005866G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly607Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103005864C>G	NCI-TCGA
COL11A1	P12107	p.Gly607Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103005864C>T	NCI-TCGA
COL11A1	P12107	p.Gly607Val	rs779153123	missense variant	-	NC_000001.11:g.103005863C>A	ExAC,gnomAD
COL11A1	P12107	p.Leu608Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103005861G>T	NCI-TCGA
COL11A1	P12107	p.Pro609Leu	rs569828207	missense variant	-	NC_000001.11:g.103005857G>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Asp611Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103005852C>A	NCI-TCGA
COL11A1	P12107	p.Asp611Asn	rs780843845	missense variant	-	NC_000001.11:g.103005852C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly613Asp	rs1409436282	missense variant	-	NC_000001.11:g.103005845C>T	gnomAD
COL11A1	P12107	p.His614Tyr	rs1417714910	missense variant	-	NC_000001.11:g.103005843G>A	gnomAD
COL11A1	P12107	p.His614Arg	rs1445066888	missense variant	-	NC_000001.11:g.103005842T>C	gnomAD
COL11A1	P12107	p.Arg615Lys	COSM3470496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103005839C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg615Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103005839C>A	NCI-TCGA
COL11A1	P12107	p.Gly616Asp	COSM6120250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004660C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly616Ser	rs1168771172	missense variant	-	NC_000001.11:g.103004661C>T	TOPMed
COL11A1	P12107	p.Arg618Gln	rs192313594	missense variant	-	NC_000001.11:g.103004654C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly619Asp	rs1206592841	missense variant	-	NC_000001.11:g.103004651C>T	gnomAD
COL11A1	P12107	p.Pro620Leu	rs777479105	missense variant	-	NC_000001.11:g.103004648G>A	ExAC,gnomAD
COL11A1	P12107	p.Gln621Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103004646G>T	NCI-TCGA
COL11A1	P12107	p.Pro623His	rs758303420	missense variant	-	NC_000001.11:g.103004639G>T	ExAC,gnomAD
COL11A1	P12107	p.Pro623Ser	rs1279141807	missense variant	-	NC_000001.11:g.103004640G>A	gnomAD
COL11A1	P12107	p.Pro624Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103004637G>C	NCI-TCGA
COL11A1	P12107	p.Gly625Ser	COSM70237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004634C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly625Val	RCV000018669	missense variant	Stickler syndrome, type 2 (STL2)	NC_000001.11:g.103004633C>A	ClinVar
COL11A1	P12107	p.Gly625Val	rs121912943	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.103004633C>A	UniProt,dbSNP
COL11A1	P12107	p.Gly625Val	VAR_013583	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.103004633C>A	UniProt
COL11A1	P12107	p.Gly625Val	rs121912943	missense variant	-	NC_000001.11:g.103004633C>A	-
COL11A1	P12107	p.Pro626Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103004630G>A	NCI-TCGA
COL11A1	P12107	p.Asp629Asn	rs551653403	missense variant	-	NC_000001.11:g.103004622C>T	ExAC,gnomAD
COL11A1	P12107	p.Asp629Gly	rs1371731461	missense variant	-	NC_000001.11:g.103004621T>C	gnomAD
COL11A1	P12107	p.Met632Ile	RCV000315632	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103004611C>T	ClinVar
COL11A1	P12107	p.Met632Ile	RCV000354589	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103004611C>T	ClinVar
COL11A1	P12107	p.Met632Ile	RCV000266764	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103004611C>T	ClinVar
COL11A1	P12107	p.Met632Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103004611C>A	NCI-TCGA
COL11A1	P12107	p.Met632Ile	rs199835797	missense variant	-	NC_000001.11:g.103004611C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg633Lys	rs1410504443	missense variant	-	NC_000001.11:g.103004609C>T	TOPMed,gnomAD
COL11A1	P12107	p.Arg633Met	rs1410504443	missense variant	-	NC_000001.11:g.103004609C>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly634Glu	COSM3470492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004487C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly634Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.103004488C>A	NCI-TCGA
COL11A1	P12107	p.Glu635Ter	COSM893144	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103004485C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu635Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103004485C>T	NCI-TCGA
COL11A1	P12107	p.Asp636Tyr	rs368447146	missense variant	-	NC_000001.11:g.103004482C>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly637Glu	rs1416550327	missense variant	-	NC_000001.11:g.103004478C>T	gnomAD
COL11A1	P12107	p.Ile639Leu	rs1005824320	missense variant	-	NC_000001.11:g.103004473T>G	TOPMed
COL11A1	P12107	p.Ile639Val	rs1005824320	missense variant	-	NC_000001.11:g.103004473T>C	TOPMed
COL11A1	P12107	p.Gly640Ter	COSM4020008	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103004470C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro641Arg	rs888296694	missense variant	-	NC_000001.11:g.103004466G>C	TOPMed,gnomAD
COL11A1	P12107	p.Pro641LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103004466_103004467GG>-	NCI-TCGA
COL11A1	P12107	p.Pro641Gln	rs888296694	missense variant	-	NC_000001.11:g.103004466G>T	TOPMed,gnomAD
COL11A1	P12107	p.Arg642Ile	COSM893142	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004463C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg642Ser	rs142506188	missense variant	-	NC_000001.11:g.103004462T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly643Ser	COSM1332133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004461C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly643Ala	rs1427555518	missense variant	-	NC_000001.11:g.103004460C>G	TOPMed,gnomAD
COL11A1	P12107	p.Pro645Ser	COSM3862065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004455G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala648Asp	rs778758741	missense variant	-	NC_000001.11:g.103004445G>T	ExAC,gnomAD
COL11A1	P12107	p.Pro650Arg	RCV000393400	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103003264G>C	ClinVar
COL11A1	P12107	p.Pro650Arg	RCV000290623	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103003264G>C	ClinVar
COL11A1	P12107	p.Pro650Arg	RCV000347901	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103003264G>C	ClinVar
COL11A1	P12107	p.Pro650Arg	rs199875795	missense variant	-	NC_000001.11:g.103003264G>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro650Ser	rs202080663	missense variant	-	NC_000001.11:g.103003265G>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Arg651Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103003261C>G	NCI-TCGA
COL11A1	P12107	p.Arg651Gln	rs763512720	missense variant	-	NC_000001.11:g.103003261C>T	ExAC,gnomAD
COL11A1	P12107	p.Leu654Pro	RCV000494648	missense variant	-	NC_000001.11:g.103003252A>G	ClinVar
COL11A1	P12107	p.Leu654Pro	rs1131691449	missense variant	-	NC_000001.11:g.103003252A>G	-
COL11A1	P12107	p.Pro656Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103003246G>A	NCI-TCGA
COL11A1	P12107	p.Pro656Ser	rs1376472813	missense variant	-	NC_000001.11:g.103003247G>A	gnomAD
COL11A1	P12107	p.Gly658Val	rs1201613198	missense variant	-	NC_000001.11:g.103003240C>A	gnomAD
COL11A1	P12107	p.Pro660Leu	rs765789130	missense variant	-	NC_000001.11:g.103003234G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro663Leu	rs1377533345	missense variant	-	NC_000001.11:g.103003225G>A	TOPMed
COL11A1	P12107	p.Gly664Ala	rs1432891693	missense variant	-	NC_000001.11:g.103003222C>G	TOPMed
COL11A1	P12107	p.Gln665SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.103003221C>-	NCI-TCGA
COL11A1	P12107	p.Gln665Lys	rs141812524	missense variant	-	NC_000001.11:g.103003220G>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro666Thr	rs373366240	missense variant	-	NC_000001.11:g.103003217G>T	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Gly667Ser	rs760878512	missense variant	-	NC_000001.11:g.103002791C>T	ExAC,gnomAD
COL11A1	P12107	p.Met668Val	rs773479103	missense variant	-	NC_000001.11:g.103002788T>C	ExAC,gnomAD
COL11A1	P12107	p.Met668Thr	rs767790003	missense variant	-	NC_000001.11:g.103002787A>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala669Thr	rs1392705479	missense variant	-	NC_000001.11:g.103002785C>T	gnomAD
COL11A1	P12107	p.Gly670Ala	COSM6120256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103002781C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly670Val	COSM6120254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103002781C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Val671Glu	rs776277117	missense variant	-	NC_000001.11:g.103002778A>T	ExAC,gnomAD
COL11A1	P12107	p.Val671Ile	rs201602988	missense variant	-	NC_000001.11:g.103002779C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val671Leu	rs201602988	missense variant	-	NC_000001.11:g.103002779C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val671Ala	rs776277117	missense variant	-	NC_000001.11:g.103002778A>G	ExAC,gnomAD
COL11A1	P12107	p.Val671Gly	rs776277117	missense variant	-	NC_000001.11:g.103002778A>C	ExAC,gnomAD
COL11A1	P12107	p.Asp672Asn	RCV000597009	missense variant	-	NC_000001.11:g.103002776C>T	ClinVar
COL11A1	P12107	p.Asp672Asn	rs143663917	missense variant	-	NC_000001.11:g.103002776C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp672Glu	rs756127132	missense variant	-	NC_000001.11:g.103002774A>T	ExAC
COL11A1	P12107	p.Asp672Glu	rs756127132	missense variant	-	NC_000001.11:g.103002774A>C	ExAC
COL11A1	P12107	p.Asp672Val	rs755412439	missense variant	-	NC_000001.11:g.103002775T>A	ExAC,gnomAD
COL11A1	P12107	p.Asp672Tyr	rs143663917	missense variant	-	NC_000001.11:g.103002776C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp672Gly	rs755412439	missense variant	-	NC_000001.11:g.103002775T>C	ExAC,gnomAD
COL11A1	P12107	p.Gly673Ser	rs762115241	missense variant	-	NC_000001.11:g.103002773C>T	ExAC
COL11A1	P12107	p.Gly673Val	rs765120248	missense variant	-	NC_000001.11:g.103002772C>A	ExAC,gnomAD
COL11A1	P12107	p.Gly673Asp	rs765120248	missense variant	-	NC_000001.11:g.103002772C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly673Cys	rs762115241	missense variant	-	NC_000001.11:g.103002773C>A	ExAC
COL11A1	P12107	p.Gly673Ala	rs765120248	missense variant	-	NC_000001.11:g.103002772C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly673Arg	rs762115241	missense variant	-	NC_000001.11:g.103002773C>G	ExAC
COL11A1	P12107	p.Pro674Ser	RCV000378977	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103002770G>A	ClinVar
COL11A1	P12107	p.Pro674Ser	RCV000278724	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103002770G>A	ClinVar
COL11A1	P12107	p.Pro674Ser	RCV000317432	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103002770G>A	ClinVar
COL11A1	P12107	p.Pro674Thr	rs201849355	missense variant	-	NC_000001.11:g.103002770G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro674His	rs771604834	missense variant	-	NC_000001.11:g.103002769G>T	ExAC
COL11A1	P12107	p.Pro674Ser	rs201849355	missense variant	-	NC_000001.11:g.103002770G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro675Ser	rs1189438796	missense variant	-	NC_000001.11:g.103002767G>A	TOPMed,gnomAD
COL11A1	P12107	p.Pro675Ala	rs1189438796	missense variant	-	NC_000001.11:g.103002767G>C	TOPMed,gnomAD
COL11A1	P12107	p.Gly676Arg	rs749663226	missense variant	-	NC_000001.11:g.103002764C>T	ExAC
COL11A1	P12107	p.Pro677Gln	rs1247397017	missense variant	-	NC_000001.11:g.103002760G>T	gnomAD
COL11A1	P12107	p.Lys678Asn	rs780468909	missense variant	-	NC_000001.11:g.103002756T>G	ExAC,gnomAD
COL11A1	P12107	p.Gly679Arg	rs756644221	missense variant	-	NC_000001.11:g.103002755C>T	ExAC
COL11A1	P12107	p.Asn680Ser	rs375314757	missense variant	-	NC_000001.11:g.103002751T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn680His	rs750452005	missense variant	-	NC_000001.11:g.103002752T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Met681Thr	rs751867060	missense variant	-	NC_000001.11:g.103002748A>G	ExAC,gnomAD
COL11A1	P12107	p.Gly682Ser	rs369011087	missense variant	-	NC_000001.11:g.103002481C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro683Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103002478G>A	NCI-TCGA
COL11A1	P12107	p.Pro683His	rs1374336699	missense variant	-	NC_000001.11:g.103002477G>T	TOPMed
COL11A1	P12107	p.Glu686Asp	rs369536049	missense variant	-	NC_000001.11:g.103002467C>A	TOPMed,gnomAD
COL11A1	P12107	p.Glu686Gln	rs1451066918	missense variant	-	NC_000001.11:g.103002469C>G	gnomAD
COL11A1	P12107	p.Glu686Asp	rs369536049	missense variant	-	NC_000001.11:g.103002467C>G	TOPMed,gnomAD
COL11A1	P12107	p.Pro687Leu	rs750436769	missense variant	-	NC_000001.11:g.103002465G>A	ExAC,gnomAD
COL11A1	P12107	p.Gly688Arg	COSM3788351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103002463C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln692Lys	rs761316669	missense variant	-	NC_000001.11:g.103002451G>T	ExAC,gnomAD
COL11A1	P12107	p.Gln692Leu	rs573493137	missense variant	-	NC_000001.11:g.103002450T>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Gln693Leu	COSM4876841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103002447T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly694Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103002444C>T	NCI-TCGA
COL11A1	P12107	p.Gly694Arg	rs1282726061	missense variant	-	NC_000001.11:g.103002445C>T	gnomAD
COL11A1	P12107	p.Pro698Thr	rs1343291286	missense variant	-	NC_000001.11:g.103002433G>T	TOPMed,gnomAD
COL11A1	P12107	p.Pro698Leu	rs1278300568	missense variant	-	NC_000001.11:g.103002432G>A	gnomAD
COL11A1	P12107	p.Gln699His	rs775800593	missense variant	-	NC_000001.11:g.103002428C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly700Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103001969C>A	NCI-TCGA
COL11A1	P12107	p.Gly700Val	rs776884377	missense variant	-	NC_000001.11:g.103001968C>A	ExAC,gnomAD
COL11A1	P12107	p.Leu701Ile	COSM5477367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103001966G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu701Phe	rs771448295	missense variant	-	NC_000001.11:g.103001966G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro702Ser	rs866684077	missense variant	-	NC_000001.11:g.103001963G>A	-
COL11A1	P12107	p.Pro702His	rs1238365331	missense variant	-	NC_000001.11:g.103001962G>T	TOPMed,gnomAD
COL11A1	P12107	p.Pro702Arg	rs1238365331	missense variant	-	NC_000001.11:g.103001962G>C	TOPMed,gnomAD
COL11A1	P12107	p.Gln705Glu	rs747512885	missense variant	-	NC_000001.11:g.103001954G>C	ExAC,gnomAD
COL11A1	P12107	p.Gly706Ser	COSM3470484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103001951C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro707Thr	COSM352784	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103001948G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro707Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103001947G>T	NCI-TCGA
COL11A1	P12107	p.Ile708Thr	rs1310810919	missense variant	-	NC_000001.11:g.103001944A>G	gnomAD
COL11A1	P12107	p.Ile708Val	rs772339760	missense variant	-	NC_000001.11:g.103001945T>C	ExAC,gnomAD
COL11A1	P12107	p.Gly709Cys	rs748255490	missense variant	-	NC_000001.11:g.103001942C>A	ExAC
COL11A1	P12107	p.Pro710Leu	rs1317627473	missense variant	-	NC_000001.11:g.103001938G>A	TOPMed
COL11A1	P12107	p.Lys714Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.103001925T>G	NCI-TCGA
COL11A1	P12107	p.Gly715Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102998362C>A	NCI-TCGA
COL11A1	P12107	p.Gly715Ala	rs1398745197	missense variant	-	NC_000001.11:g.102998362C>G	TOPMed
COL11A1	P12107	p.Pro716Leu	rs770689108	missense variant	-	NC_000001.11:g.102998359G>A	ExAC,gnomAD
COL11A1	P12107	p.Gln717His	rs1265360733	missense variant	-	NC_000001.11:g.102998355T>G	gnomAD
COL11A1	P12107	p.Gln717Arg	rs142524348	missense variant	-	NC_000001.11:g.102998356T>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly718Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102998353C>T	NCI-TCGA
COL11A1	P12107	p.Gly718Arg	rs777648055	missense variant	-	NC_000001.11:g.102998354C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly721Arg	rs1204226663	missense variant	-	NC_000001.11:g.102998345C>G	gnomAD
COL11A1	P12107	p.Ala723Asp	rs758354863	missense variant	-	NC_000001.11:g.102998338G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala723Thr	rs1326811164	missense variant	-	NC_000001.11:g.102998339C>T	TOPMed
COL11A1	P12107	p.Gly724Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102998335C>A	NCI-TCGA
COL11A1	P12107	p.Leu725Pro	rs778328390	missense variant	-	NC_000001.11:g.102998332A>G	ExAC,gnomAD
COL11A1	P12107	p.Leu725Phe	rs1450257151	missense variant	-	NC_000001.11:g.102998333G>A	gnomAD
COL11A1	P12107	p.Gly727Ala	COSM674596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102998326C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly727Arg	rs1388009608	missense variant	-	NC_000001.11:g.102998327C>G	gnomAD
COL11A1	P12107	p.Asp729Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102998320T>A	NCI-TCGA
COL11A1	P12107	p.Asp729Glu	rs754657948	missense variant	-	NC_000001.11:g.102998319A>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro731Leu	COSM6120258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102998314G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro731Ser	rs753495125	missense variant	-	NC_000001.11:g.102998315G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro732Ser	rs375443900	missense variant	-	NC_000001.11:g.102998312G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly733Cys	rs1473729252	missense variant	-	NC_000001.11:g.102997124C>A	gnomAD
COL11A1	P12107	p.Gly733Val	rs762407046	missense variant	-	NC_000001.11:g.102997123C>A	ExAC,gnomAD
COL11A1	P12107	p.Pro735Ala	rs752066122	missense variant	-	NC_000001.11:g.102997118G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly739Ser	rs764676570	missense variant	-	NC_000001.11:g.102997106C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly739AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102997107T>-	NCI-TCGA
COL11A1	P12107	p.Ser741Tyr	rs1205519938	missense variant	-	NC_000001.11:g.102997099G>T	gnomAD
COL11A1	P12107	p.Gly742Val	rs886044320	missense variant	-	NC_000001.11:g.102997096C>A	gnomAD
COL11A1	P12107	p.Gly742Ala	RCV000271770	missense variant	-	NC_000001.11:g.102997096C>G	ClinVar
COL11A1	P12107	p.Gly742Arg	rs1458197167	missense variant	-	NC_000001.11:g.102997097C>G	TOPMed
COL11A1	P12107	p.Gly742Ala	rs886044320	missense variant	-	NC_000001.11:g.102997096C>G	gnomAD
COL11A1	P12107	p.Glu743Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102997093T>C	NCI-TCGA
COL11A1	P12107	p.Lys744Arg	rs775660447	missense variant	-	NC_000001.11:g.102997090T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Lys744Asn	rs765354732	missense variant	-	NC_000001.11:g.102997089C>G	ExAC,gnomAD
COL11A1	P12107	p.Ala746Asp	COSM5660375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102997084G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala746Thr	rs1444287963	missense variant	-	NC_000001.11:g.102997085C>T	gnomAD
COL11A1	P12107	p.Gly748ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102996041C>-	NCI-TCGA
COL11A1	P12107	p.Pro749Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102996039G>A	NCI-TCGA
COL11A1	P12107	p.Pro749Leu	rs776773238	missense variant	-	NC_000001.11:g.102996038G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro750Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102996035G>A	NCI-TCGA
COL11A1	P12107	p.Pro750His	rs1389530844	missense variant	-	NC_000001.11:g.102996035G>T	gnomAD
COL11A1	P12107	p.Gly751Ser	rs766589007	missense variant	-	NC_000001.11:g.102996033C>T	ExAC,gnomAD
COL11A1	P12107	p.Pro752Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102996029G>A	NCI-TCGA
COL11A1	P12107	p.Pro752Ala	rs1468071076	missense variant	-	NC_000001.11:g.102996030G>C	TOPMed
COL11A1	P12107	p.Gln753Leu	rs1248563085	missense variant	-	NC_000001.11:g.102996026T>A	TOPMed
COL11A1	P12107	p.Gln753Ter	rs761552834	stop gained	-	NC_000001.11:g.102996027G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly754Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102996023C>A	NCI-TCGA
COL11A1	P12107	p.Gly754Ser	rs1242196023	missense variant	-	NC_000001.11:g.102996024C>T	gnomAD
COL11A1	P12107	p.Pro755Leu	rs774229221	missense variant	-	NC_000001.11:g.102996020G>A	ExAC,gnomAD
COL11A1	P12107	p.Ile756Thr	rs1372308202	missense variant	-	NC_000001.11:g.102996017A>G	TOPMed
COL11A1	P12107	p.Ile756Val	rs1190680048	missense variant	-	NC_000001.11:g.102996018T>C	TOPMed
COL11A1	P12107	p.Gly757Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102996014C>T	NCI-TCGA
COL11A1	P12107	p.Tyr758Cys	rs1164609841	missense variant	-	NC_000001.11:g.102996011T>C	TOPMed
COL11A1	P12107	p.Tyr758Ter	rs768459353	stop gained	-	NC_000001.11:g.102996010G>T	ExAC,gnomAD
COL11A1	P12107	p.Pro759Leu	rs749290763	missense variant	-	NC_000001.11:g.102996008G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly760Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102996006C>T	NCI-TCGA
COL11A1	P12107	p.Pro761Leu	COSM3470482	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102996002G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro761His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102996002G>T	NCI-TCGA
COL11A1	P12107	p.Arg762GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102996000G>-	NCI-TCGA
COL11A1	P12107	p.Arg762Trp	rs759469788	missense variant	-	NC_000001.11:g.102996000G>A	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Arg762Leu	rs758825857	missense variant	-	NC_000001.11:g.102995999C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg762Gly	rs759469788	missense variant	-	NC_000001.11:g.102996000G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg762Trp	rs759469788	missense variant	-	NC_000001.11:g.102996000G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg762Gln	rs758825857	missense variant	-	NC_000001.11:g.102995999C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly763Ala	COSM3801085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102995996C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala767Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102995905C>A	NCI-TCGA
COL11A1	P12107	p.Ala767Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102995904G>C	NCI-TCGA
COL11A1	P12107	p.Ala767Glu	rs372933541	missense variant	-	NC_000001.11:g.102995904G>T	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Ala767Val	rs372933541	missense variant	-	NC_000001.11:g.102995904G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala767Glu	rs372933541	missense variant	-	NC_000001.11:g.102995904G>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp768Glu	rs1039841585	missense variant	-	NC_000001.11:g.102995900A>T	TOPMed,gnomAD
COL11A1	P12107	p.Lys774Met	COSM893138	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102995883T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser776Cys	COSM3788349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102995877G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys777Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102995875T>C	NCI-TCGA
COL11A1	P12107	p.Lys777Gln	rs1325783062	missense variant	-	NC_000001.11:g.102995875T>G	gnomAD
COL11A1	P12107	p.Gly778Cys	COSM1294633	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102995872C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys780ArgPheSerTerUnkUnk	COSM5163891	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102995865T>-	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys780Thr	rs1413563785	missense variant	-	NC_000001.11:g.102995865T>G	TOPMed
COL11A1	P12107	p.Gly781Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102989570C>T	NCI-TCGA
COL11A1	P12107	p.Glu782Asp	rs780097762	missense variant	-	NC_000001.11:g.102989566T>A	ExAC,gnomAD
COL11A1	P12107	p.Glu782Lys	rs1413530833	missense variant	-	NC_000001.11:g.102989568C>T	gnomAD
COL11A1	P12107	p.Gly784Arg	RCV000022496	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102989562C>G	ClinVar
COL11A1	P12107	p.Gly784Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102989562C>A	NCI-TCGA
COL11A1	P12107	p.Gly784Arg	rs387906611	missense variant	-	NC_000001.11:g.102989562C>G	-
COL11A1	P12107	p.Gly790Asp	RCV000346298	missense variant	-	NC_000001.11:g.102989543C>T	ClinVar
COL11A1	P12107	p.Gly790Asp	rs886044242	missense variant	-	NC_000001.11:g.102989543C>T	-
COL11A1	P12107	p.Met792Arg	rs1244260470	missense variant	-	NC_000001.11:g.102989537A>C	NCI-TCGA
COL11A1	P12107	p.Met792Arg	rs1244260470	missense variant	-	NC_000001.11:g.102989537A>C	gnomAD
COL11A1	P12107	p.Lys795Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102989529T>A	NCI-TCGA
COL11A1	P12107	p.Lys795Gln	rs1390463221	missense variant	-	NC_000001.11:g.102989529T>G	TOPMed
COL11A1	P12107	p.Gly796Arg	VAR_065904	Missense	Fibrochondrogenesis 1 (FBCG1) [MIM:228520]	-	UniProt
COL11A1	P12107	p.Asp797Asn	rs762668220	missense variant	-	NC_000001.11:g.102989523C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg798Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102989518T>A	NCI-TCGA
COL11A1	P12107	p.Arg798Thr	rs1337183045	missense variant	-	NC_000001.11:g.102989519C>G	gnomAD
COL11A1	P12107	p.Gly799Arg	rs745911557	missense variant	-	NC_000001.11:g.102987740C>T	ExAC,gnomAD
COL11A1	P12107	p.Ile804Met	rs1300929951	missense variant	-	NC_000001.11:g.102987723A>C	gnomAD
COL11A1	P12107	p.Ile804Thr	rs1407487086	missense variant	-	NC_000001.11:g.102987724A>G	gnomAD
COL11A1	P12107	p.Pro806Ser	COSM674600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987719G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro806Leu	rs757495447	missense variant	-	NC_000001.11:g.102987718G>A	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Pro806Leu	rs757495447	missense variant	-	NC_000001.11:g.102987718G>A	ExAC,gnomAD
COL11A1	P12107	p.Arg807Ser	rs367824632	missense variant	-	NC_000001.11:g.102987714T>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly808Glu	RCV000512879	missense variant	-	NC_000001.11:g.102987712C>T	ClinVar
COL11A1	P12107	p.Gly808Arg	rs778153225	missense variant	-	NC_000001.11:g.102987713C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly808Ala	rs754751701	missense variant	-	NC_000001.11:g.102987712C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly808Glu	rs754751701	missense variant	-	NC_000001.11:g.102987712C>T	ExAC,gnomAD
COL11A1	P12107	p.Asp810Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102987707C>A	NCI-TCGA
COL11A1	P12107	p.Asp810His	rs1375285705	missense variant	-	NC_000001.11:g.102987707C>G	gnomAD
COL11A1	P12107	p.Gly811Ser	rs1460936812	missense variant	-	NC_000001.11:g.102987704C>T	TOPMed
COL11A1	P12107	p.Pro812His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102987700G>T	NCI-TCGA
COL11A1	P12107	p.Gly814Arg	COSM3470478	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987695C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro815Ser	rs1432642387	missense variant	-	NC_000001.11:g.102987692G>A	gnomAD
COL11A1	P12107	p.Lys816Arg	rs766287614	missense variant	-	NC_000001.11:g.102987688T>C	ExAC,gnomAD
COL11A1	P12107	p.Arg818Gln	rs142523692	missense variant	-	NC_000001.11:g.102987682C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala819Gly	rs749913678	missense variant	-	NC_000001.11:g.102987679G>C	NCI-TCGA
COL11A1	P12107	p.Ala819Gly	rs749913678	missense variant	-	NC_000001.11:g.102987679G>C	ExAC,gnomAD
COL11A1	P12107	p.Thr822Pro	rs1170275738	missense variant	-	NC_000001.11:g.102987671T>G	gnomAD
COL11A1	P12107	p.Thr822Asn	rs767005595	missense variant	-	NC_000001.11:g.102987670G>T	ExAC,TOPMed
COL11A1	P12107	p.Asp824Tyr	COSM674602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987665C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp824Asn	RCV000480899	missense variant	-	NC_000001.11:g.102987665C>T	ClinVar
COL11A1	P12107	p.Asp824Asn	rs1064796668	missense variant	-	NC_000001.11:g.102987665C>T	-
COL11A1	P12107	p.Pro825Ser	rs773937298	missense variant	-	NC_000001.11:g.102987662G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro827Ser	COSM1559252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987656G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro827Leu	RCV000659316	missense variant	Connective tissue disorder	NC_000001.11:g.102987655G>A	ClinVar
COL11A1	P12107	p.Pro827Leu	rs1252968708	missense variant	-	NC_000001.11:g.102987655G>A	gnomAD
COL11A1	P12107	p.Gly829Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102987649C>A	NCI-TCGA
COL11A1	P12107	p.Gly829Glu	RCV000598693	insertion	-	NC_000001.11:g.102987651_102987652insTCT	ClinVar
COL11A1	P12107	p.Gln830Ter	COSM674604	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102987647G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala831Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102987643G>A	NCI-TCGA
COL11A1	P12107	p.Ala831Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102987644C>T	NCI-TCGA
COL11A1	P12107	p.Gly832Glu	COSM4020006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987640C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly832Ter	rs12735019	stop gained	-	NC_000001.11:g.102987641C>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly832Arg	rs12735019	missense variant	-	NC_000001.11:g.102987641C>T	TOPMed,gnomAD
COL11A1	P12107	p.Lys834Met	rs1311138776	missense variant	-	NC_000001.11:g.102987634T>A	gnomAD
COL11A1	P12107	p.Gly835Ter	COSM6057211	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102984191C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly835Glu	rs867124963	missense variant	-	NC_000001.11:g.102984190C>T	-
COL11A1	P12107	p.Gly835Glu	rs867124963	missense variant	-	NC_000001.11:g.102984190C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys836Glu	rs1319482941	missense variant	-	NC_000001.11:g.102984188T>C	gnomAD
COL11A1	P12107	p.Leu837Arg	COSM1248739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102984184A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu837His	COSM4020004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102984184A>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu837Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102984184A>G	NCI-TCGA
COL11A1	P12107	p.Leu837Ile	rs1323870209	missense variant	-	NC_000001.11:g.102984185G>T	gnomAD
COL11A1	P12107	p.Gly838Glu	rs372419698	missense variant	-	NC_000001.11:g.102984181C>T	ESP,gnomAD
COL11A1	P12107	p.Pro843Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102984166G>T	NCI-TCGA
COL11A1	P12107	p.Pro843Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102984167G>T	NCI-TCGA
COL11A1	P12107	p.Gly844Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102984163C>T	NCI-TCGA
COL11A1	P12107	p.Pro846Leu	RCV000659317	missense variant	Connective tissue disorder	NC_000001.11:g.102984157G>A	ClinVar
COL11A1	P12107	p.Pro846Thr	rs750390186	missense variant	-	NC_000001.11:g.102984158G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro846Leu	rs1308067070	missense variant	-	NC_000001.11:g.102984157G>A	gnomAD
COL11A1	P12107	p.Gly847Arg	COSM3470476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102984155C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg848Ile	rs781206372	missense variant	-	NC_000001.11:g.102984151C>A	ExAC,gnomAD
COL11A1	P12107	p.Gln849Arg	rs1404518979	missense variant	-	NC_000001.11:g.102984148T>C	gnomAD
COL11A1	P12107	p.Gly850Val	rs756693376	missense variant	-	NC_000001.11:g.102984145C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly850Ala	rs756693376	missense variant	-	NC_000001.11:g.102984145C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro851Ser	rs1367668493	missense variant	-	NC_000001.11:g.102984143G>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly853Ser	rs1271577403	missense variant	-	NC_000001.11:g.102979435C>T	gnomAD
COL11A1	P12107	p.Ser854Phe	rs781016402	missense variant	-	NC_000001.11:g.102979431G>A	ExAC,gnomAD
COL11A1	P12107	p.Thr855Pro	rs1328489908	missense variant	-	NC_000001.11:g.102979429T>G	TOPMed
COL11A1	P12107	p.Gly856Val	COSM674606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979425C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly856Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102979425C>T	NCI-TCGA
COL11A1	P12107	p.Gly856Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102979426C>T	NCI-TCGA
COL11A1	P12107	p.Gly859Ala	rs770823842	missense variant	-	NC_000001.11:g.102979416C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly859Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102979416C>A	NCI-TCGA
COL11A1	P12107	p.Gly859Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102979417C>A	NCI-TCGA
COL11A1	P12107	p.Phe860Ile	RCV000177644	missense variant	-	NC_000001.11:g.102979414A>T	ClinVar
COL11A1	P12107	p.Phe860Ile	RCV000515040	missense variant	-	NC_000001.11:g.102979414A>T	ClinVar
COL11A1	P12107	p.Phe860Ile	rs141548164	missense variant	-	NC_000001.11:g.102979414A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro861Ser	rs1380013450	missense variant	-	NC_000001.11:g.102979411G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro861Ser	rs1380013450	missense variant	-	NC_000001.11:g.102979411G>A	TOPMed
COL11A1	P12107	p.Gly862Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102979408C>A	NCI-TCGA
COL11A1	P12107	p.Gly862Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102979407C>A	NCI-TCGA
COL11A1	P12107	p.Asn864Lys	rs757779461	missense variant	-	NC_000001.11:g.102979400A>T	ExAC,gnomAD
COL11A1	P12107	p.Asn864Ser	rs1340194622	missense variant	-	NC_000001.11:g.102979401T>C	gnomAD
COL11A1	P12107	p.Lys867Asn	COSM6120268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979391T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly868Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102979389C>G	NCI-TCGA
COL11A1	P12107	p.Ala869Ser	COSM4020000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979387C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg870Trp	rs778379327	missense variant	-	NC_000001.11:g.102979384G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg870Gly	rs778379327	missense variant	-	NC_000001.11:g.102979384G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg870Gln	rs367952241	missense variant	-	NC_000001.11:g.102979383C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val872Leu	COSM674610	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979101C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Val872Leu	rs1253305498	missense variant	-	NC_000001.11:g.102979101C>G	TOPMed
COL11A1	P12107	p.Ala873Asp	rs1467756967	missense variant	-	NC_000001.11:g.102979097G>T	TOPMed,gnomAD
COL11A1	P12107	p.Gly874Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102979094C>A	NCI-TCGA
COL11A1	P12107	p.Gly874Asp	rs1407595240	missense variant	-	NC_000001.11:g.102979094C>T	gnomAD
COL11A1	P12107	p.Pro876Gln	rs1181587428	missense variant	-	NC_000001.11:g.102979088G>T	TOPMed
COL11A1	P12107	p.Pro878Arg	rs370974962	missense variant	-	NC_000001.11:g.102979082G>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg879Trp	rs771754817	missense variant	-	NC_000001.11:g.102979080G>A	TOPMed,gnomAD
COL11A1	P12107	p.Arg879Gln	rs375752532	missense variant	-	NC_000001.11:g.102979079C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg882Gly	COSM674612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979071G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg882Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102979071G>T	NCI-TCGA
COL11A1	P12107	p.Arg882Cys	rs749003514	missense variant	-	NC_000001.11:g.102979071G>A	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Arg882Cys	rs749003514	missense variant	-	NC_000001.11:g.102979071G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg882His	rs779869745	missense variant	-	NC_000001.11:g.102979070C>T	ExAC,gnomAD
COL11A1	P12107	p.Thr885Lys	rs550201657	missense variant	-	NC_000001.11:g.102979061G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr885Met	rs550201657	missense variant	-	NC_000001.11:g.102979061G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg888Gln	rs779814887	missense variant	-	NC_000001.11:g.102978906C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg888Ter	rs748815162	stop gained	-	NC_000001.11:g.102978907G>A	ExAC,gnomAD
COL11A1	P12107	p.Arg888Pro	rs779814887	missense variant	-	NC_000001.11:g.102978906C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg888Gln	rs779814887	missense variant	-	NC_000001.11:g.102978906C>T	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Gly889Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102978904C>A	NCI-TCGA
COL11A1	P12107	p.Arg891Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102978896T>A	NCI-TCGA
COL11A1	P12107	p.Gly892Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102978894C>A	NCI-TCGA
COL11A1	P12107	p.Ala893Thr	rs769596733	missense variant	-	NC_000001.11:g.102978892C>T	ExAC,TOPMed
COL11A1	P12107	p.Ala893Ser	rs769596733	missense variant	-	NC_000001.11:g.102978892C>A	ExAC,TOPMed
COL11A1	P12107	p.Pro896Ser	COSM4892621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102978883G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly898Ala	rs1243707789	missense variant	-	NC_000001.11:g.102978876C>G	gnomAD
COL11A1	P12107	p.Pro900Thr	COSM6120270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102978871G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro900His	COSM5786056	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102978870G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro900Leu	rs1218491017	missense variant	-	NC_000001.11:g.102978870G>A	TOPMed
COL11A1	P12107	p.Thr905Ser	rs1479584979	missense variant	-	NC_000001.11:g.102978748G>C	gnomAD
COL11A1	P12107	p.Gly908Val	COSM6120272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102978739C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly908Ser	rs758953085	missense variant	-	NC_000001.11:g.102978740C>T	ExAC,gnomAD
COL11A1	P12107	p.Asp909Asn	RCV000734465	missense variant	-	NC_000001.11:g.102978737C>T	ClinVar
COL11A1	P12107	p.Asp909Asn	rs779028602	missense variant	-	NC_000001.11:g.102978737C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp909Tyr	rs779028602	missense variant	-	NC_000001.11:g.102978737C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp909Asn	rs779028602	missense variant	-	NC_000001.11:g.102978737C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro911Leu	rs1280999450	missense variant	-	NC_000001.11:g.102978730G>A	gnomAD
COL11A1	P12107	p.Pro912Leu	rs192842970	missense variant	-	NC_000001.11:g.102978727G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly913Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102978725C>A	NCI-TCGA
COL11A1	P12107	p.Gly913Val	rs1259202618	missense variant	-	NC_000001.11:g.102978724C>A	TOPMed
COL11A1	P12107	p.Gly913Ser	rs1241371088	missense variant	-	NC_000001.11:g.102978725C>T	TOPMed
COL11A1	P12107	p.Pro914His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102978721G>T	NCI-TCGA
COL11A1	P12107	p.Pro915Ala	rs766511805	missense variant	-	NC_000001.11:g.102978719G>C	ExAC,gnomAD
COL11A1	P12107	p.Gly916Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102978716C>T	NCI-TCGA
COL11A1	P12107	p.Glu917Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102978713C>T	NCI-TCGA
COL11A1	P12107	p.Gly919Asp	rs1382966537	missense variant	-	NC_000001.11:g.102974882C>T	TOPMed
COL11A1	P12107	p.Pro920Arg	rs751341336	missense variant	-	NC_000001.11:g.102974879G>C	ExAC,gnomAD
COL11A1	P12107	p.Gln921Arg	rs764047909	missense variant	-	NC_000001.11:g.102974876T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gln921_Pro926del	VAR_013585	inframe_deletion	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
COL11A1	P12107	p.Gly922Ter	COSM893132	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102974874C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro923Leu	rs375398395	missense variant	-	NC_000001.11:g.102974870G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro923His	rs375398395	missense variant	-	NC_000001.11:g.102974870G>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gln924Arg	rs921127329	missense variant	-	NC_000001.11:g.102974867T>C	TOPMed,gnomAD
COL11A1	P12107	p.Val927Ala	rs776051361	missense variant	-	NC_000001.11:g.102974858A>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val927Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102974859C>A	NCI-TCGA
COL11A1	P12107	p.Pro930Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102974850G>T	NCI-TCGA
COL11A1	P12107	p.Pro930His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102974849G>T	NCI-TCGA
COL11A1	P12107	p.Gly931Glu	RCV000681784	missense variant	-	NC_000001.11:g.102974846C>T	ClinVar
COL11A1	P12107	p.Pro932Arg	rs1287107942	missense variant	-	NC_000001.11:g.102974843G>C	gnomAD
COL11A1	P12107	p.Gly934Asp	rs1263477946	missense variant	-	NC_000001.11:g.102974837C>T	TOPMed
COL11A1	P12107	p.Pro935Thr	COSM526988	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102974835G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro935His	RCV000659318	missense variant	Connective tissue disorder	NC_000001.11:g.102974834G>T	ClinVar
COL11A1	P12107	p.Pro935His	rs368422725	missense variant	-	NC_000001.11:g.102974834G>T	ESP,TOPMed,gnomAD
COL11A1	P12107	p.Pro935Arg	rs368422725	missense variant	-	NC_000001.11:g.102974834G>C	ESP,TOPMed,gnomAD
COL11A1	P12107	p.Pro935Ser	rs1244593543	missense variant	-	NC_000001.11:g.102974835G>A	gnomAD
COL11A1	P12107	p.Pro935Leu	rs368422725	missense variant	-	NC_000001.11:g.102974834G>A	ESP,TOPMed,gnomAD
COL11A1	P12107	p.Pro936Thr	COSM6120274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102974832G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly937Glu	rs867506243	missense variant	-	NC_000001.11:g.102970271C>T	TOPMed
COL11A1	P12107	p.Gly937Arg	rs1384200293	missense variant	-	NC_000001.11:g.102970272C>T	TOPMed
COL11A1	P12107	p.Pro938Leu	rs780040764	missense variant	-	NC_000001.11:g.102970268G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro938Ser	rs371076582	missense variant	-	NC_000001.11:g.102970269G>A	ESP,ExAC,gnomAD
COL11A1	P12107	p.Pro938Arg	rs780040764	missense variant	-	NC_000001.11:g.102970268G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro939Ala	rs1490014591	missense variant	-	NC_000001.11:g.102970266G>C	gnomAD
COL11A1	P12107	p.Pro939Arg	rs1292669050	missense variant	-	NC_000001.11:g.102970265G>C	gnomAD
COL11A1	P12107	p.Asp942His	rs947892400	missense variant	-	NC_000001.11:g.102970257C>G	gnomAD
COL11A1	P12107	p.Asp942Val	rs1323456836	missense variant	-	NC_000001.11:g.102970256T>A	TOPMed
COL11A1	P12107	p.Gly943Glu	rs1338828664	missense variant	-	NC_000001.11:g.102970253C>T	TOPMed,gnomAD
COL11A1	P12107	p.Gly946Arg	rs1401774928	missense variant	-	NC_000001.11:g.102970245C>G	gnomAD
COL11A1	P12107	p.Pro948Ser	rs781579110	missense variant	-	NC_000001.11:g.102970239G>A	ExAC,gnomAD
COL11A1	P12107	p.Arg951His	rs1278648408	missense variant	-	NC_000001.11:g.102970229C>T	gnomAD
COL11A1	P12107	p.Arg951Cys	rs1001275411	missense variant	-	NC_000001.11:g.102970230G>A	TOPMed,gnomAD
COL11A1	P12107	p.Glu953Lys	COSM4019996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102970224C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr954Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102970220G>T	NCI-TCGA
COL11A1	P12107	p.Thr954Ile	rs1347856166	missense variant	-	NC_000001.11:g.102970220G>A	gnomAD
COL11A1	P12107	p.Gly955Glu	COSM1294631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965539C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Phe956Ile	COSM6057219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965537A>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly958Cys	COSM893130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965531C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro962Arg	rs1192133331	missense variant	-	NC_000001.11:g.102965518G>C	TOPMed,gnomAD
COL11A1	P12107	p.Pro962His	rs1192133331	missense variant	-	NC_000001.11:g.102965518G>T	TOPMed,gnomAD
COL11A1	P12107	p.Pro962Thr	rs754929156	missense variant	-	NC_000001.11:g.102965519G>T	ExAC
COL11A1	P12107	p.Pro963Ser	COSM4899864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965516G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly964Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102965512C>A	NCI-TCGA
COL11A1	P12107	p.Pro965Ala	rs1470107899	missense variant	-	NC_000001.11:g.102965510G>C	gnomAD
COL11A1	P12107	p.Pro965Ser	rs1470107899	missense variant	-	NC_000001.11:g.102965510G>A	gnomAD
COL11A1	P12107	p.Gly966Arg	rs1231644157	missense variant	-	NC_000001.11:g.102965507C>T	gnomAD
COL11A1	P12107	p.Gly966Glu	rs1180994816	missense variant	-	NC_000001.11:g.102965506C>T	gnomAD
COL11A1	P12107	p.Gly967Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102965504C>A	NCI-TCGA
COL11A1	P12107	p.Gly967Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102965503C>A	NCI-TCGA
COL11A1	P12107	p.Gly967Arg	rs1321151186	missense variant	-	NC_000001.11:g.102965504C>T	TOPMed
COL11A1	P12107	p.Val968Met	rs1242544627	missense variant	-	NC_000001.11:g.102965501C>T	TOPMed,gnomAD
COL11A1	P12107	p.Gly970Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102965495C>A	NCI-TCGA
COL11A1	P12107	p.Pro971Thr	COSM1320195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965492G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro971Ser	rs1202026855	missense variant	-	NC_000001.11:g.102965492G>A	gnomAD
COL11A1	P12107	p.Gln972His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102965487C>A	NCI-TCGA
COL11A1	P12107	p.Gly973Ter	COSM674618	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102962760C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro974Gln	rs78046647	missense variant	-	NC_000001.11:g.102962756G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro974Gln	RCV000680459	missense variant	Connective tissue disorder	NC_000001.11:g.102962756G>T	ClinVar
COL11A1	P12107	p.Pro974Gln	RCV000177980	missense variant	-	NC_000001.11:g.102962756G>T	ClinVar
COL11A1	P12107	p.Pro974Gln	RCV000332585	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102962756G>T	ClinVar
COL11A1	P12107	p.Pro974Ala	rs780750875	missense variant	-	NC_000001.11:g.102962757G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro974Thr	rs780750875	missense variant	-	NC_000001.11:g.102962757G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro974Ser	rs780750875	missense variant	-	NC_000001.11:g.102962757G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr975Asn	rs751154792	missense variant	-	NC_000001.11:g.102962753G>T	ExAC,gnomAD
COL11A1	P12107	p.Thr975Ile	rs751154792	missense variant	-	NC_000001.11:g.102962753G>A	ExAC,gnomAD
COL11A1	P12107	p.Gly976Val	RCV000018671	missense variant	Marshall/Stickler syndrome	NC_000001.11:g.102962750C>A	ClinVar
COL11A1	P12107	p.Gly976Ser	rs763187998	missense variant	-	NC_000001.11:g.102962751C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly976Val	rs121912944	missense variant	-	NC_000001.11:g.102962750C>A	-
COL11A1	P12107	p.Glu977Lys	rs1400659821	missense variant	-	NC_000001.11:g.102962748C>T	gnomAD
COL11A1	P12107	p.Thr978Ser	rs1359641823	missense variant	-	NC_000001.11:g.102962745T>A	TOPMed
COL11A1	P12107	p.Ile981Thr	rs1244379073	missense variant	-	NC_000001.11:g.102962735A>G	TOPMed
COL11A1	P12107	p.Gly982Arg	COSM4918453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962733C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu983Lys	rs1420908638	missense variant	-	NC_000001.11:g.102962730C>T	gnomAD
COL11A1	P12107	p.Arg984Leu	COSM6057221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962726C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg984His	rs147271219	missense variant	-	NC_000001.11:g.102962726C>T	ESP,TOPMed,gnomAD
COL11A1	P12107	p.Gly985Glu	rs375205348	missense variant	-	NC_000001.11:g.102962723C>T	ESP,ExAC,gnomAD
COL11A1	P12107	p.Pro987His	rs1414541088	missense variant	-	NC_000001.11:g.102962717G>T	gnomAD
COL11A1	P12107	p.Gly988Asp	rs1186160639	missense variant	-	NC_000001.11:g.102962714C>T	TOPMed,gnomAD
COL11A1	P12107	p.Gly991Asp	RCV000761265	missense variant	Stickler syndrome, type 2 (STL2)	NC_000001.11:g.102962705C>T	ClinVar
COL11A1	P12107	p.Pro992Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962703G>C	NCI-TCGA
COL11A1	P12107	p.Gln996Glu	rs1488603346	missense variant	-	NC_000001.11:g.102962691G>C	gnomAD
COL11A1	P12107	p.Gly997Asp	rs772357889	missense variant	-	NC_000001.11:g.102962687C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly997Ser	rs773263515	missense variant	-	NC_000001.11:g.102962688C>T	ExAC,gnomAD
COL11A1	P12107	p.Pro999Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962681G>A	NCI-TCGA
COL11A1	P12107	p.Ala1001Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962676C>A	NCI-TCGA
COL11A1	P12107	p.Ala1001Asp	rs1378524449	missense variant	-	NC_000001.11:g.102962675G>T	TOPMed
COL11A1	P12107	p.Ala1002Ser	rs1323007469	missense variant	-	NC_000001.11:g.102962673C>A	gnomAD
COL11A1	P12107	p.Gly1003Arg	COSM3470472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962670C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1003Glu	COSM1688170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962669C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys1004Arg	rs371813445	missense variant	-	NC_000001.11:g.102962666T>C	ESP,TOPMed,gnomAD
COL11A1	P12107	p.Glu1005Lys	COSM674620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962664C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1005Asp	COSM4019994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962662T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1005Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102962664C>A	NCI-TCGA
COL11A1	P12107	p.Gly1006Arg	rs749012877	missense variant	-	NC_000001.11:g.102962661C>G	ExAC,gnomAD
COL11A1	P12107	p.Ala1007Thr	rs775398471	missense variant	-	NC_000001.11:g.102962658C>T	ExAC,gnomAD
COL11A1	P12107	p.Ala1007Glu	rs769721902	missense variant	-	NC_000001.11:g.102962657G>T	ExAC,gnomAD
COL11A1	P12107	p.Ala1007Val	rs769721902	missense variant	-	NC_000001.11:g.102962657G>A	ExAC,gnomAD
COL11A1	P12107	p.Asp1010Asn	rs1267946269	missense variant	-	NC_000001.11:g.102962262C>T	gnomAD
COL11A1	P12107	p.Asp1010Val	rs1177879707	missense variant	-	NC_000001.11:g.102962261T>A	gnomAD
COL11A1	P12107	p.Pro1011Thr	rs578210032	missense variant	-	NC_000001.11:g.102962259G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1011Ser	rs578210032	missense variant	-	NC_000001.11:g.102962259G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1012Val	COSM527000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962255C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln1014Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102962250G>A	NCI-TCGA
COL11A1	P12107	p.Gln1014Glu	rs777407112	missense variant	-	NC_000001.11:g.102962250G>C	ExAC,gnomAD
COL11A1	P12107	p.Gly1015Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962246C>G	NCI-TCGA
COL11A1	P12107	p.Gly1015Val	rs1343845258	missense variant	-	NC_000001.11:g.102962246C>A	gnomAD
COL11A1	P12107	p.Gly1015Asp	rs1343845258	missense variant	-	NC_000001.11:g.102962246C>T	gnomAD
COL11A1	P12107	p.Ile1016Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962242G>C	NCI-TCGA
COL11A1	P12107	p.Ile1016Asn	rs1235854486	missense variant	-	NC_000001.11:g.102962243A>T	gnomAD
COL11A1	P12107	p.Ile1016Val	rs1254668966	missense variant	-	NC_000001.11:g.102962244T>C	gnomAD
COL11A1	P12107	p.Ser1017Leu	COSM1688166	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962240G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1018Arg	rs757971705	missense variant	-	NC_000001.11:g.102962238C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1018Arg	rs757971705	missense variant	-	NC_000001.11:g.102962238C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1021Glu	COSM3862061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962228C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1022Thr	rs1306947876	missense variant	-	NC_000001.11:g.102962226G>T	gnomAD
COL11A1	P12107	p.Ala1023Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962223C>A	NCI-TCGA
COL11A1	P12107	p.Ala1023Glu	rs1040168773	missense variant	-	NC_000001.11:g.102962222G>T	TOPMed,gnomAD
COL11A1	P12107	p.Gly1024Arg	COSM3470466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962220C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu1025Ile	rs1379222421	missense variant	-	NC_000001.11:g.102962217A>T	gnomAD
COL11A1	P12107	p.Arg1026His	rs944650989	missense variant	-	NC_000001.11:g.102962213C>T	gnomAD
COL11A1	P12107	p.Arg1026Cys	rs377320274	missense variant	-	NC_000001.11:g.102962214G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1027Arg	VAR_063676	Missense	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
COL11A1	P12107	p.Phe1028Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962206G>T	NCI-TCGA
COL11A1	P12107	p.Phe1028Leu	rs778713231	missense variant	-	NC_000001.11:g.102962208A>G	ExAC
COL11A1	P12107	p.Pro1029Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962204G>T	NCI-TCGA
COL11A1	P12107	p.Gly1030Ala	rs754273408	missense variant	-	NC_000001.11:g.102962201C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly1030Val	COSM1180243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962201C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1030Arg	COSM674622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962202C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1031Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962199C>T	NCI-TCGA
COL11A1	P12107	p.Arg1032Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102962194T>A	NCI-TCGA
COL11A1	P12107	p.Arg1032Gly	rs1394533672	missense variant	-	NC_000001.11:g.102962196T>C	TOPMed
COL11A1	P12107	p.Leu1034Phe	rs866324545	missense variant	-	NC_000001.11:g.102962190G>A	-
COL11A1	P12107	p.Gly1036Arg	rs755525115	missense variant	-	NC_000001.11:g.102962184C>G	TOPMed,gnomAD
COL11A1	P12107	p.Ala1037Thr	rs951756351	missense variant	-	NC_000001.11:g.102962181C>T	TOPMed,gnomAD
COL11A1	P12107	p.Gln1038Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102962178G>A	NCI-TCGA
COL11A1	P12107	p.Gly1039Ser	rs764282256	missense variant	-	NC_000001.11:g.102961919C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1039Cys	rs764282256	missense variant	-	NC_000001.11:g.102961919C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1040Thr	rs1287397345	missense variant	-	NC_000001.11:g.102961916C>T	gnomAD
COL11A1	P12107	p.Ala1040Val	rs753615442	missense variant	-	NC_000001.11:g.102961915G>A	ExAC,gnomAD
COL11A1	P12107	p.Gly1042Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102961910C>A	NCI-TCGA
COL11A1	P12107	p.Gly1042Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102961909C>A	NCI-TCGA
COL11A1	P12107	p.Gly1042Arg	VAR_065905	Missense	Fibrochondrogenesis 1 (FBCG1) [MIM:228520]	-	UniProt
COL11A1	P12107	p.Leu1043Pro	RCV000324839	missense variant	-	NC_000001.11:g.102961906A>G	ClinVar
COL11A1	P12107	p.Leu1043Met	rs766137600	missense variant	-	NC_000001.11:g.102961907G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Leu1043Pro	rs886044176	missense variant	-	NC_000001.11:g.102961906A>G	gnomAD
COL11A1	P12107	p.Gly1045Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102961900C>T	NCI-TCGA
COL11A1	P12107	p.Gly1045Ala	rs149000575	missense variant	-	NC_000001.11:g.102961900C>G	ESP,gnomAD
COL11A1	P12107	p.Gly1046Glu	rs773157346	missense variant	-	NC_000001.11:g.102961897C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1046Arg	rs760387652	missense variant	-	NC_000001.11:g.102961898C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu1047Asp	rs140230238	missense variant	-	NC_000001.11:g.102961893T>A	ESP
COL11A1	P12107	p.Pro1052Ser	rs774043430	missense variant	-	NC_000001.11:g.102961880G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1053Gln	rs1388019006	missense variant	-	NC_000001.11:g.102961876G>T	gnomAD
COL11A1	P12107	p.Gly1057Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102946956C>T	NCI-TCGA
COL11A1	P12107	p.Gly1057Ala	rs1419574444	missense variant	-	NC_000001.11:g.102946955C>G	TOPMed,gnomAD
COL11A1	P12107	p.Pro1059Gln	COSM6120278	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946949G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1059Leu	COSM3470462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946949G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1059Ser	rs758428843	missense variant	-	NC_000001.11:g.102946950G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1059Ala	rs758428843	missense variant	-	NC_000001.11:g.102946950G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1060Ter	COSM674626	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102946947C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1060Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102946947C>T	NCI-TCGA
COL11A1	P12107	p.Arg1062His	rs1234848212	missense variant	-	NC_000001.11:g.102946940C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1062Cys	rs1276582034	missense variant	-	NC_000001.11:g.102946941G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1062His	rs1234848212	missense variant	-	NC_000001.11:g.102946940C>T	TOPMed,gnomAD
COL11A1	P12107	p.Arg1062Cys	rs1276582034	missense variant	-	NC_000001.11:g.102946941G>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly1063Arg	COSM423334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946938C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1063Arg	rs1337462128	missense variant	-	NC_000001.11:g.102946938C>T	NCI-TCGA
COL11A1	P12107	p.Gly1063Trp	rs1337462128	missense variant	-	NC_000001.11:g.102946938C>A	TOPMed
COL11A1	P12107	p.Gly1063Arg	rs1337462128	missense variant	-	NC_000001.11:g.102946938C>T	TOPMed
COL11A1	P12107	p.Ala1065Thr	COSM423332	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946932C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala1065Gly	rs150976349	missense variant	-	NC_000001.11:g.102946931G>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1066Ser	COSM6057227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946929C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1066Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102946928C>T	NCI-TCGA
COL11A1	P12107	p.Thr1067Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102946925G>A	NCI-TCGA
COL11A1	P12107	p.Ala1068Val	rs1431696534	missense variant	-	NC_000001.11:g.102946922G>A	TOPMed
COL11A1	P12107	p.Gly1069Val	rs1333035222	missense variant	-	NC_000001.11:g.102946919C>A	gnomAD
COL11A1	P12107	p.Ile1071Met	COSM268925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946912A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Ile1071Val	rs368743921	missense variant	-	NC_000001.11:g.102946914T>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile1071Thr	rs1174825061	missense variant	-	NC_000001.11:g.102946913A>G	gnomAD
COL11A1	P12107	p.Leu1073Val	rs757133106	missense variant	-	NC_000001.11:g.102946908A>C	ExAC,gnomAD
COL11A1	P12107	p.Arg1076Leu	rs148464130	missense variant	-	NC_000001.11:g.102946898C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1076His	rs148464130	missense variant	-	NC_000001.11:g.102946898C>T	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1076Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102946899G>A	NCI-TCGA
COL11A1	P12107	p.Arg1076His	rs148464130	missense variant	-	NC_000001.11:g.102946898C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1077Thr	RCV000382264	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102946896G>T	ClinVar
COL11A1	P12107	p.Pro1077Thr	RCV000291280	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102946896G>T	ClinVar
COL11A1	P12107	p.Pro1077Thr	RCV000343870	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102946896G>T	ClinVar
COL11A1	P12107	p.Pro1077Leu	rs373734529	missense variant	-	NC_000001.11:g.102946895G>A	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1077Thr	rs144562769	missense variant	-	NC_000001.11:g.102946896G>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1077Leu	rs373734529	missense variant	-	NC_000001.11:g.102946895G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1078Arg	COSM4600355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946893C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1078Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102946892C>T	NCI-TCGA
COL11A1	P12107	p.Pro1079Ala	COSM6057229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946890G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1079Ser	rs1208237338	missense variant	-	NC_000001.11:g.102946890G>A	gnomAD
COL11A1	P12107	p.Gln1080His	rs764915609	missense variant	-	NC_000001.11:g.102946885C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly1081Arg	RCV000022495	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102946884C>G	ClinVar
COL11A1	P12107	p.Gly1081Arg	rs397514455	missense variant	-	NC_000001.11:g.102946884C>G	gnomAD
COL11A1	P12107	p.Pro1083Ser	rs759181090	missense variant	-	NC_000001.11:g.102946878G>A	ExAC,gnomAD
COL11A1	P12107	p.Gly1084Ser	COSM4019986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946875C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1085Thr	rs1352895098	missense variant	-	NC_000001.11:g.102946872G>T	gnomAD
COL11A1	P12107	p.Ala1086Ser	rs1306515853	missense variant	-	NC_000001.11:g.102946869C>A	gnomAD
COL11A1	P12107	p.Ala1086Pro	rs1306515853	missense variant	-	NC_000001.11:g.102946869C>G	gnomAD
COL11A1	P12107	p.Glu1088Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102946861C>A	NCI-TCGA
COL11A1	P12107	p.Glu1088Asp	rs1241711974	missense variant	-	NC_000001.11:g.102946861C>G	gnomAD
COL11A1	P12107	p.Glu1088Ala	rs890128212	missense variant	-	NC_000001.11:g.102946862T>G	TOPMed
COL11A1	P12107	p.Gly1090Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102946857C>A	NCI-TCGA
COL11A1	P12107	p.Ala1091Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102946853G>A	NCI-TCGA
COL11A1	P12107	p.Ala1091Thr	rs1450713198	missense variant	-	NC_000001.11:g.102946854C>T	TOPMed
COL11A1	P12107	p.Pro1092Leu	COSM268169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946850G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1092Ser	rs1216801624	missense variant	-	NC_000001.11:g.102946851G>A	TOPMed
COL11A1	P12107	p.Gly1093Glu	rs1477374848	missense variant	-	NC_000001.11:g.102940433C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1093Glu	rs1477374848	missense variant	-	NC_000001.11:g.102940433C>T	gnomAD
COL11A1	P12107	p.Glu1094Val	rs1260695073	missense variant	-	NC_000001.11:g.102940430T>A	gnomAD
COL11A1	P12107	p.Glu1094Ter	COSM893124	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102940431C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys1095Glu	rs761001181	missense variant	-	NC_000001.11:g.102940428T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1096Ala	rs772562171	missense variant	-	NC_000001.11:g.102940424C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly1096ValPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102940424C>-	NCI-TCGA
COL11A1	P12107	p.Gly1096Cys	rs773606108	missense variant	-	NC_000001.11:g.102940425C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1096Arg	rs773606108	missense variant	-	NC_000001.11:g.102940425C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1097Thr	rs762283688	missense variant	-	NC_000001.11:g.102940422G>T	ExAC,gnomAD
COL11A1	P12107	p.Gly1099Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102940415C>A	NCI-TCGA
COL11A1	P12107	p.Pro1100Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102940413G>T	NCI-TCGA
COL11A1	P12107	p.Ala1101Ser	RCV000734470	missense variant	-	NC_000001.11:g.102940410C>A	ClinVar
COL11A1	P12107	p.Ala1101Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102940409G>T	NCI-TCGA
COL11A1	P12107	p.Gly1102Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102940406C>G	NCI-TCGA
COL11A1	P12107	p.Gly1102Glu	rs533762144	missense variant	-	NC_000001.11:g.102940406C>T	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Arg1103Ser	rs151004249	missense variant	-	NC_000001.11:g.102940402T>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Asp1104Glu	rs1371771477	missense variant	-	NC_000001.11:g.102940399A>T	TOPMed
COL11A1	P12107	p.Gln1107Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102940392G>A	NCI-TCGA
COL11A1	P12107	p.Gln1107Glu	rs1011001694	missense variant	-	NC_000001.11:g.102940392G>C	TOPMed,gnomAD
COL11A1	P12107	p.Gly1108Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102940388C>A	NCI-TCGA
COL11A1	P12107	p.Pro1109His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102940385G>T	NCI-TCGA
COL11A1	P12107	p.Val1110Ile	rs1367481145	missense variant	-	NC_000001.11:g.102940383C>T	gnomAD
COL11A1	P12107	p.Val1110_Pro1118del	VAR_063677	inframe_deletion	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
COL11A1	P12107	p.Leu1112Phe	rs367681877	missense variant	-	NC_000001.11:g.102940377G>A	ESP,TOPMed
COL11A1	P12107	p.Pro1113Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102940374G>T	NCI-TCGA
COL11A1	P12107	p.Pro1113Leu	rs746773373	missense variant	-	NC_000001.11:g.102940373G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro1113Gln	rs746773373	missense variant	-	NC_000001.11:g.102940373G>T	ExAC,gnomAD
COL11A1	P12107	p.Pro1115Leu	rs958678153	missense variant	-	NC_000001.11:g.102940367G>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly1117Ala	rs1464251137	missense variant	-	NC_000001.11:g.102940361C>G	gnomAD
COL11A1	P12107	p.Pro1118Thr	COSM1730714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102940359G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1118Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102940358G>C	NCI-TCGA
COL11A1	P12107	p.Ala1119Val	COSM1688156	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102940355G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala1119Thr	rs777782226	missense variant	-	NC_000001.11:g.102940356C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly1120Ser	RCV000301099	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102940353C>T	ClinVar
COL11A1	P12107	p.Gly1120Ser	RCV000262608	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102940353C>T	ClinVar
COL11A1	P12107	p.Gly1120Ser	RCV000353684	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102940353C>T	ClinVar
COL11A1	P12107	p.Gly1120Ser	RCV000493153	missense variant	-	NC_000001.11:g.102940353C>T	ClinVar
COL11A1	P12107	p.Gly1120Ser	rs370589018	missense variant	-	NC_000001.11:g.102940353C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser1121Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102940349G>C	NCI-TCGA
COL11A1	P12107	p.Ser1121Phe	rs868116129	missense variant	-	NC_000001.11:g.102940349G>A	gnomAD
COL11A1	P12107	p.Ser1121Tyr	rs868116129	missense variant	-	NC_000001.11:g.102940349G>T	gnomAD
COL11A1	P12107	p.Ser1121Ala	rs778937772	missense variant	-	NC_000001.11:g.102940350A>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1122His	COSM674628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102940346G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1123Ala	rs1337801284	missense variant	-	NC_000001.11:g.102940343C>G	TOPMed,gnomAD
COL11A1	P12107	p.Asp1125Glu	rs17127270	missense variant	-	NC_000001.11:g.102940336G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp1125Glu	rs17127270	missense variant	-	NC_000001.11:g.102940336G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1126Arg	rs760385978	missense variant	-	NC_000001.11:g.102940335C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp1127Tyr	COSM893122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102940332C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1127Gly	rs368436896	missense variant	-	NC_000001.11:g.102940331T>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1129Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102939088C>A	NCI-TCGA
COL11A1	P12107	p.Gly1129Ser	rs1053714743	missense variant	-	NC_000001.11:g.102939088C>T	TOPMed,gnomAD
COL11A1	P12107	p.Glu1133Lys	COSM3788347	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102939076C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1133Gln	rs757517185	missense variant	-	NC_000001.11:g.102939076C>G	ExAC,gnomAD
COL11A1	P12107	p.Pro1134Thr	rs752004106	missense variant	-	NC_000001.11:g.102939073G>T	ExAC,gnomAD
COL11A1	P12107	p.Pro1134Leu	rs764478054	missense variant	-	NC_000001.11:g.102939072G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1135Glu	COSM462497	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102939069C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1135Ter	COSM6120280	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102939070C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser1139Asn	COSM6120282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102939057C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1142Asn	rs1364963653	missense variant	-	NC_000001.11:g.102939049C>T	gnomAD
COL11A1	P12107	p.Lys1143Glu	rs1182148061	missense variant	-	NC_000001.11:g.102939046T>C	gnomAD
COL11A1	P12107	p.Asn1146Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102939037T>A	NCI-TCGA
COL11A1	P12107	p.Pro1148Ala	rs764581778	missense variant	-	NC_000001.11:g.102935110G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1148Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102935109G>C	NCI-TCGA
COL11A1	P12107	p.Pro1148Ser	rs764581778	missense variant	-	NC_000001.11:g.102935110G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1149Ser	rs758705318	missense variant	-	NC_000001.11:g.102935107G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1149Leu	rs1354282865	missense variant	-	NC_000001.11:g.102935106G>A	gnomAD
COL11A1	P12107	p.Gly1150Ser	rs765858331	missense variant	-	NC_000001.11:g.102935104C>T	ExAC,gnomAD
COL11A1	P12107	p.Pro1151Thr	rs759663106	missense variant	-	NC_000001.11:g.102935101G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1151Ser	rs759663106	missense variant	-	NC_000001.11:g.102935101G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1152Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102935098G>T	NCI-TCGA
COL11A1	P12107	p.Pro1152Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102935097G>A	NCI-TCGA
COL11A1	P12107	p.Gly1153Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102935094C>A	NCI-TCGA
COL11A1	P12107	p.Gly1156Glu	rs776887032	missense variant	-	NC_000001.11:g.102935085C>T	ExAC,gnomAD
COL11A1	P12107	p.Val1158Ala	RCV000283911	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102935079A>G	ClinVar
COL11A1	P12107	p.Val1158Ala	RCV000348216	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102935079A>G	ClinVar
COL11A1	P12107	p.Val1158Ala	RCV000406086	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102935079A>G	ClinVar
COL11A1	P12107	p.Val1158Ala	rs375675171	missense variant	-	NC_000001.11:g.102935079A>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1159Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102935076C>T	NCI-TCGA
COL11A1	P12107	p.Ala1160Thr	rs145253279	missense variant	-	NC_000001.11:g.102935074C>T	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Pro1161LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102935070G>-	NCI-TCGA
COL11A1	P12107	p.Pro1161Arg	rs773318998	missense variant	-	NC_000001.11:g.102935070G>C	ExAC,gnomAD
COL11A1	P12107	p.Ala1164Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102935062C>T	NCI-TCGA
COL11A1	P12107	p.Ala1164Ser	rs1387864980	missense variant	-	NC_000001.11:g.102935062C>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly1165Glu	COSM3862059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934555C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1166Cys	rs777456846	missense variant	-	NC_000001.11:g.102934553C>A	NCI-TCGA
COL11A1	P12107	p.Gly1166Cys	rs777456846	missense variant	-	NC_000001.11:g.102934553C>A	ExAC,gnomAD
COL11A1	P12107	p.Asp1167Gly	rs1373311078	missense variant	-	NC_000001.11:g.102934549T>C	TOPMed
COL11A1	P12107	p.Gly1168Cys	rs1433647335	missense variant	-	NC_000001.11:g.102934547C>A	TOPMed
COL11A1	P12107	p.Glu1169Lys	COSM3933976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934544C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1170Ser	rs771888200	missense variant	-	NC_000001.11:g.102934541G>A	ExAC,gnomAD
COL11A1	P12107	p.Arg1173Gly	rs748514838	missense variant	-	NC_000001.11:g.102934532T>C	ExAC,gnomAD
COL11A1	P12107	p.Arg1173Ser	rs779474747	missense variant	-	NC_000001.11:g.102934530T>A	ExAC,gnomAD
COL11A1	P12107	p.Gln1176His	rs755406698	missense variant	-	NC_000001.11:g.102934521C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly1177Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102934519C>T	NCI-TCGA
COL11A1	P12107	p.Gly1180Val	COSM674632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934510C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln1181Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102934508G>T	NCI-TCGA
COL11A1	P12107	p.Gln1181Pro	rs370534700	missense variant	-	NC_000001.11:g.102934507T>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1183ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102934503T>-	NCI-TCGA
COL11A1	P12107	p.Ala1187Ser	rs750518623	missense variant	-	NC_000001.11:g.102934490C>A	ExAC,gnomAD
COL11A1	P12107	p.Phe1190Leu	RCV000626281	missense variant	Stickler syndrome, type 2 (STL2)	NC_000001.11:g.102934481A>G	ClinVar
COL11A1	P12107	p.Phe1190Leu	rs1377819809	missense variant	-	NC_000001.11:g.102934481A>G	NCI-TCGA
COL11A1	P12107	p.Phe1190Leu	rs1377819809	missense variant	-	NC_000001.11:g.102934481A>G	TOPMed,gnomAD
COL11A1	P12107	p.Pro1191His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102934477G>T	NCI-TCGA
COL11A1	P12107	p.Gly1192Arg	COSM674634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934475C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1192Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102934475C>A	NCI-TCGA
COL11A1	P12107	p.Pro1193Thr	rs762091325	missense variant	-	NC_000001.11:g.102934472G>T	ExAC,gnomAD
COL11A1	P12107	p.Pro1193Leu	rs752478007	missense variant	-	NC_000001.11:g.102934471G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1193Arg	rs752478007	missense variant	-	NC_000001.11:g.102934471G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1194Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102934469G>T	NCI-TCGA
COL11A1	P12107	p.Pro1194Ser	rs868128582	missense variant	-	NC_000001.11:g.102934469G>A	TOPMed,gnomAD
COL11A1	P12107	p.Gly1195Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102934466C>A	NCI-TCGA
COL11A1	P12107	p.Pro1196Leu	COSM3470456	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934462G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1196Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102934462G>T	NCI-TCGA
COL11A1	P12107	p.Ile1197Thr	rs776596192	missense variant	-	NC_000001.11:g.102934459A>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1198Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102934456C>A	NCI-TCGA
COL11A1	P12107	p.Leu1199Val	rs138507620	missense variant	-	NC_000001.11:g.102934454G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gln1200His	rs760198197	missense variant	-	NC_000001.11:g.102934449C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly1201Ser	rs1349308961	missense variant	-	NC_000001.11:g.102923389C>T	gnomAD
COL11A1	P12107	p.Leu1202Met	COSM1560150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102923386G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1203Ser	COSM4019984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102923383G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1205Gln	rs747117487	missense variant	-	NC_000001.11:g.102923376G>T	ExAC,gnomAD
COL11A1	P12107	p.Pro1206Ala	COSM674636	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102923374G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1206Leu	rs1427648893	missense variant	-	NC_000001.11:g.102923373G>A	gnomAD
COL11A1	P12107	p.Gly1207Cys	rs1234981157	missense variant	-	NC_000001.11:g.102923371C>A	NCI-TCGA
COL11A1	P12107	p.Gly1207Cys	rs1234981157	missense variant	-	NC_000001.11:g.102923371C>A	TOPMed
COL11A1	P12107	p.Glu1208Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102923368C>T	NCI-TCGA
COL11A1	P12107	p.Glu1208Gly	rs1417329768	missense variant	-	NC_000001.11:g.102923367T>C	gnomAD
COL11A1	P12107	p.Glu1211Lys	rs1485916096	missense variant	-	NC_000001.11:g.102923359C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1211Lys	rs1485916096	missense variant	-	NC_000001.11:g.102923359C>T	gnomAD
COL11A1	P12107	p.Pro1217Arg	COSM3470452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102923340G>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1217Leu	RCV000318784	missense variant	-	NC_000001.11:g.102923340G>A	ClinVar
COL11A1	P12107	p.Pro1217Leu	rs753649097	missense variant	-	NC_000001.11:g.102923340G>A	ExAC,gnomAD
COL11A1	P12107	p.Met1218Val	RCV000489459	missense variant	-	NC_000001.11:g.102923338T>C	ClinVar
COL11A1	P12107	p.Met1218Leu	rs951017335	missense variant	-	NC_000001.11:g.102923338T>A	TOPMed,gnomAD
COL11A1	P12107	p.Met1218Val	rs951017335	missense variant	-	NC_000001.11:g.102923338T>C	TOPMed,gnomAD
COL11A1	P12107	p.Met1218Thr	rs766027063	missense variant	-	NC_000001.11:g.102923337A>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1219Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102921571C>A	NCI-TCGA
COL11A1	P12107	p.Pro1220Ser	rs772204282	missense variant	-	NC_000001.11:g.102921568G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1220Leu	rs748248761	missense variant	-	NC_000001.11:g.102921567G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro1226Arg	rs1462477742	missense variant	-	NC_000001.11:g.102921549G>C	gnomAD
COL11A1	P12107	p.Arg1227Gly	rs868033385	missense variant	-	NC_000001.11:g.102921547T>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1227Ile	COSM893120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102921546C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1227Gly	rs868033385	missense variant	-	NC_000001.11:g.102921547T>C	gnomAD
COL11A1	P12107	p.Gly1228Arg	rs779225134	missense variant	-	NC_000001.11:g.102921544C>G	ExAC,gnomAD
COL11A1	P12107	p.Pro1229Thr	COSM122261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102921541G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1229Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102921540G>A	NCI-TCGA
COL11A1	P12107	p.Pro1229Ser	rs755814936	missense variant	-	NC_000001.11:g.102921541G>A	ExAC,gnomAD
COL11A1	P12107	p.Gly1231Asp	rs750291363	missense variant	-	NC_000001.11:g.102921534C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1231Val	rs750291363	missense variant	-	NC_000001.11:g.102921534C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1232Ser	rs781242618	missense variant	-	NC_000001.11:g.102921532G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn1233Ser	rs778311240	missense variant	-	NC_000001.11:g.102921528T>C	ExAC,gnomAD
COL11A1	P12107	p.Asn1233Asp	rs1196261195	missense variant	-	NC_000001.11:g.102921529T>C	TOPMed
COL11A1	P12107	p.Asn1233Ser	RCV000659321	missense variant	Connective tissue disorder	NC_000001.11:g.102921528T>C	ClinVar
COL11A1	P12107	p.Gly1234Glu	COSM4019982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102921525C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1234Ala	rs1485524435	missense variant	-	NC_000001.11:g.102921525C>G	gnomAD
COL11A1	P12107	p.Ala1235Asp	rs1356363513	missense variant	-	NC_000001.11:g.102921522G>T	gnomAD
COL11A1	P12107	p.Asp1236Gly	rs762530182	missense variant	-	NC_000001.11:g.102921519T>C	ExAC,gnomAD
COL11A1	P12107	p.Asp1236Asn	rs140292959	missense variant	-	NC_000001.11:g.102921520C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1237Glu	COSM1248737	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920363C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1238Leu	COSM3470448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920360G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1238Thr	COSM3417797	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920361G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1238Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102920361G>A	NCI-TCGA
COL11A1	P12107	p.Gln1239Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102920357T>C	NCI-TCGA
COL11A1	P12107	p.Gln1239Ter	rs754679150	stop gained	-	NC_000001.11:g.102920358G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gln1239Lys	rs754679150	missense variant	-	NC_000001.11:g.102920358G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1241His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102920351G>T	NCI-TCGA
COL11A1	P12107	p.Pro1241Leu	rs151195708	missense variant	-	NC_000001.11:g.102920351G>A	ESP,ExAC
COL11A1	P12107	p.Pro1242Gln	COSM4019978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920348G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1242Arg	rs1178882531	missense variant	-	NC_000001.11:g.102920348G>C	gnomAD
COL11A1	P12107	p.Gly1243Ala	rs1340972566	missense variant	-	NC_000001.11:g.102920345C>G	gnomAD
COL11A1	P12107	p.Ser1244Tyr	COSM6120284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920342G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser1244Pro	rs773541584	missense variant	-	NC_000001.11:g.102920343A>G	ExAC,gnomAD
COL11A1	P12107	p.Ser1244Thr	rs773541584	missense variant	-	NC_000001.11:g.102920343A>T	ExAC,gnomAD
COL11A1	P12107	p.Ser1247Leu	COSM3470446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920333G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser1247Pro	rs768117401	missense variant	-	NC_000001.11:g.102920334A>G	ExAC,gnomAD
COL11A1	P12107	p.Val1248Ala	rs761766841	missense variant	-	NC_000001.11:g.102920330A>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1249Arg	COSM674638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920328C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1249Ser	rs1416193500	missense variant	-	NC_000001.11:g.102920328C>T	gnomAD
COL11A1	P12107	p.Gly1250Asp	rs774557757	missense variant	-	NC_000001.11:g.102920324C>T	ExAC,gnomAD
COL11A1	P12107	p.Val1251Ile	rs971684833	missense variant	-	NC_000001.11:g.102920322C>T	TOPMed
COL11A1	P12107	p.Glu1253Ter	COSM3417795	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102920316C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1253Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102920315T>A	NCI-TCGA
COL11A1	P12107	p.Glu1253Lys	rs1295150525	missense variant	-	NC_000001.11:g.102920316C>T	TOPMed
COL11A1	P12107	p.Lys1254ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102920312T>-	NCI-TCGA
COL11A1	P12107	p.Gly1255Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102915684C>A	NCI-TCGA
COL11A1	P12107	p.Glu1256Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102915679T>G	NCI-TCGA
COL11A1	P12107	p.Pro1257Ser	rs1341359482	missense variant	-	NC_000001.11:g.102915678G>A	gnomAD
COL11A1	P12107	p.Gly1258Arg	rs1275206156	missense variant	-	NC_000001.11:g.102915675C>T	gnomAD
COL11A1	P12107	p.Glu1259Asp	COSM1332127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915670T>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1259Gln	rs148517780	missense variant	-	NC_000001.11:g.102915672C>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu1259Ala	rs1232967796	missense variant	-	NC_000001.11:g.102915671T>G	gnomAD
COL11A1	P12107	p.Glu1259Lys	rs148517780	missense variant	-	NC_000001.11:g.102915672C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1260Pro	rs756446203	missense variant	-	NC_000001.11:g.102915669C>G	ExAC,gnomAD
COL11A1	P12107	p.Ala1260Glu	rs750838060	missense variant	-	NC_000001.11:g.102915668G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1260Ser	rs756446203	missense variant	-	NC_000001.11:g.102915669C>A	ExAC,gnomAD
COL11A1	P12107	p.Ala1260Glu	RCV000513193	missense variant	-	NC_000001.11:g.102915668G>T	ClinVar
COL11A1	P12107	p.Gly1261Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102915666C>G	NCI-TCGA
COL11A1	P12107	p.Pro1263Leu	RCV000333937	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102915659G>A	ClinVar
COL11A1	P12107	p.Pro1263Leu	RCV000364042	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102915659G>A	ClinVar
COL11A1	P12107	p.Pro1263Ser	rs930762401	missense variant	-	NC_000001.11:g.102915660G>A	TOPMed
COL11A1	P12107	p.Pro1263Thr	rs930762401	missense variant	-	NC_000001.11:g.102915660G>T	TOPMed
COL11A1	P12107	p.Pro1263Leu	rs767905237	missense variant	-	NC_000001.11:g.102915659G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1263Leu	RCV000269269	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102915659G>A	ClinVar
COL11A1	P12107	p.Gly1264Glu	rs764203200	missense variant	-	NC_000001.11:g.102915656C>T	ExAC
COL11A1	P12107	p.Pro1265Leu	rs775808299	missense variant	-	NC_000001.11:g.102915653G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1266Leu	COSM3470442	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915650G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1266Ser	COSM3470444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915651G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1267Trp	COSM674640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915648C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1268Lys	rs770191756	missense variant	-	NC_000001.11:g.102915645C>T	ExAC,gnomAD
COL11A1	P12107	p.Gly1270Ser	rs1281016939	missense variant	-	NC_000001.11:g.102915639C>T	TOPMed
COL11A1	P12107	p.Gly1270Asp	rs746752529	missense variant	-	NC_000001.11:g.102915638C>T	ExAC,gnomAD
COL11A1	P12107	p.Val1271Leu	RCV000179067	missense variant	-	NC_000001.11:g.102915636C>A	ClinVar
COL11A1	P12107	p.Val1271Ala	COSM893118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915635A>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Val1271Ile	rs150669855	missense variant	-	NC_000001.11:g.102915636C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Val1271Leu	rs150669855	missense variant	-	NC_000001.11:g.102915636C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1272Ser	rs1396950266	missense variant	-	NC_000001.11:g.102915633C>T	NCI-TCGA
COL11A1	P12107	p.Gly1272Ser	rs1396950266	missense variant	-	NC_000001.11:g.102915633C>T	gnomAD
COL11A1	P12107	p.Gly1273Val	rs779596901	missense variant	-	NC_000001.11:g.102914810C>A	ExAC,gnomAD
COL11A1	P12107	p.Pro1274Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914808G>A	NCI-TCGA
COL11A1	P12107	p.Gly1276Ala	rs1235259972	missense variant	-	NC_000001.11:g.102914801C>G	TOPMed
COL11A1	P12107	p.Gly1276Ter	rs1343449148	stop gained	-	NC_000001.11:g.102914802C>A	gnomAD
COL11A1	P12107	p.Glu1277Asp	RCV000493349	missense variant	-	NC_000001.11:g.102914797T>G	ClinVar
COL11A1	P12107	p.Glu1277Gln	rs745458984	missense variant	-	NC_000001.11:g.102914799C>G	ExAC,gnomAD
COL11A1	P12107	p.Glu1277Lys	rs745458984	missense variant	-	NC_000001.11:g.102914799C>T	ExAC,gnomAD
COL11A1	P12107	p.Glu1277Asp	rs780739712	missense variant	-	NC_000001.11:g.102914797T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1278Lys	COSM3862057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914795C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1278Thr	rs1484726432	missense variant	-	NC_000001.11:g.102914795C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1278Thr	rs1484726432	missense variant	-	NC_000001.11:g.102914795C>G	TOPMed
COL11A1	P12107	p.Gly1279Arg	rs752021003	missense variant	-	NC_000001.11:g.102914793C>T	ExAC,gnomAD
COL11A1	P12107	p.Glu1280Asp	rs778396488	missense variant	-	NC_000001.11:g.102914788C>A	ExAC,gnomAD
COL11A1	P12107	p.Gly1282Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914783C>A	NCI-TCGA
COL11A1	P12107	p.Gly1282Ala	rs759044451	missense variant	-	NC_000001.11:g.102914783C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu1283Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914781C>T	NCI-TCGA
COL11A1	P12107	p.Glu1283Ala	rs1474826014	missense variant	-	NC_000001.11:g.102914780T>G	gnomAD
COL11A1	P12107	p.Ala1284Val	rs1217545710	missense variant	-	NC_000001.11:g.102914777G>A	gnomAD
COL11A1	P12107	p.Ala1284Thr	rs1239854554	missense variant	-	NC_000001.11:g.102914778C>T	gnomAD
COL11A1	P12107	p.Gly1285Ser	COSM1320197	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914775C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1285Arg	rs752815752	missense variant	-	NC_000001.11:g.102914775C>G	ExAC,gnomAD
COL11A1	P12107	p.Pro1286Ser	COSM674644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914772G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1286Ala	rs374625601	missense variant	-	NC_000001.11:g.102914772G>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1288Ala	COSM3801081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914765C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala1289Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914763C>A	NCI-TCGA
COL11A1	P12107	p.Ala1289Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914762G>T	NCI-TCGA
COL11A1	P12107	p.Ala1289Gly	rs759561852	missense variant	-	NC_000001.11:g.102914762G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1289Thr	rs1212241628	missense variant	-	NC_000001.11:g.102914763C>T	gnomAD
COL11A1	P12107	p.Ala1290Ser	RCV000445185	missense variant	-	NC_000001.11:g.102914760C>A	ClinVar
COL11A1	P12107	p.Ala1290Gly	rs199555214	missense variant	-	NC_000001.11:g.102914759G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1290Ser	rs370988085	missense variant	-	NC_000001.11:g.102914760C>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1292Leu	rs1043927378	missense variant	-	NC_000001.11:g.102914753G>A	gnomAD
COL11A1	P12107	p.Pro1292Thr	rs1271972029	missense variant	-	NC_000001.11:g.102914754G>T	TOPMed,gnomAD
COL11A1	P12107	p.Pro1292His	rs1043927378	missense variant	-	NC_000001.11:g.102914753G>T	gnomAD
COL11A1	P12107	p.Pro1292Arg	rs1043927378	missense variant	-	NC_000001.11:g.102914753G>C	gnomAD
COL11A1	P12107	p.Pro1293Leu	rs1396420343	missense variant	-	NC_000001.11:g.102914750G>A	TOPMed
COL11A1	P12107	p.Gly1294Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914748C>T	NCI-TCGA
COL11A1	P12107	p.Gly1294Asp	rs774196470	missense variant	-	NC_000001.11:g.102914747C>T	ExAC,gnomAD
COL11A1	P12107	p.Ala1295Val	rs1432341386	missense variant	-	NC_000001.11:g.102914744G>A	TOPMed
COL11A1	P12107	p.Lys1296Arg	rs1459686009	missense variant	-	NC_000001.11:g.102914741T>C	gnomAD
COL11A1	P12107	p.Pro1299Arg	rs762819669	missense variant	-	NC_000001.11:g.102914732G>C	ExAC,gnomAD
COL11A1	P12107	p.Pro1299Thr	rs200465040	missense variant	-	NC_000001.11:g.102914733G>T	1000Genomes,TOPMed
COL11A1	P12107	p.Pro1299Ser	rs200465040	missense variant	-	NC_000001.11:g.102914733G>A	1000Genomes,TOPMed
COL11A1	P12107	p.Gly1300Ser	rs775410525	missense variant	-	NC_000001.11:g.102914730C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1304Ser	COSM1688150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914718G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1304Arg	rs1416828428	missense variant	-	NC_000001.11:g.102914717G>C	TOPMed,gnomAD
COL11A1	P12107	p.Lys1305Glu	rs1189962617	missense variant	-	NC_000001.11:g.102914715T>C	gnomAD
COL11A1	P12107	p.Gly1306Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914712C>T	NCI-TCGA
COL11A1	P12107	p.Asn1307Asp	rs985916777	missense variant	-	NC_000001.11:g.102914709T>C	TOPMed
COL11A1	P12107	p.Pro1308Leu	rs769308801	missense variant	-	NC_000001.11:g.102914705G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1309Cys	COSM4855989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914405C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1310His	COSM893114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914401G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1310Thr	rs1475841795	missense variant	-	NC_000001.11:g.102914402G>T	TOPMed
COL11A1	P12107	p.Val1311Phe	rs944444858	missense variant	-	NC_000001.11:g.102914399C>A	gnomAD
COL11A1	P12107	p.Val1311Ile	rs944444858	missense variant	-	NC_000001.11:g.102914399C>T	gnomAD
COL11A1	P12107	p.Phe1313Tyr	rs200014253	missense variant	-	NC_000001.11:g.102914392A>T	gnomAD
COL11A1	P12107	p.Phe1313Leu	rs1306480088	missense variant	-	NC_000001.11:g.102914391A>C	gnomAD
COL11A1	P12107	p.Phe1313_Gly1315del	VAR_013586	inframe_deletion	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
COL11A1	P12107	p.Gly1315Ter	RCV000022497	nonsense	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102914387C>A	ClinVar
COL11A1	P12107	p.Asp1316His	COSM1332124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914384C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1316Tyr	rs1390638679	missense variant	-	NC_000001.11:g.102914384C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1316Tyr	rs1390638679	missense variant	-	NC_000001.11:g.102914384C>A	gnomAD
COL11A1	P12107	p.Pro1317Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914381G>T	NCI-TCGA
COL11A1	P12107	p.Pro1317Arg	rs147993467	missense variant	-	NC_000001.11:g.102914380G>C	ESP,TOPMed
COL11A1	P12107	p.Pro1317Ser	rs1190686816	missense variant	-	NC_000001.11:g.102914381G>A	TOPMed
COL11A1	P12107	p.Gly1318Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914377C>A	NCI-TCGA
COL11A1	P12107	p.Gly1318Ser	rs772512103	missense variant	-	NC_000001.11:g.102914378C>T	ExAC,gnomAD
COL11A1	P12107	p.Pro1319Ala	rs1160206410	missense variant	-	NC_000001.11:g.102914375G>C	TOPMed
COL11A1	P12107	p.Pro1319Ser	rs1160206410	missense variant	-	NC_000001.11:g.102914375G>A	TOPMed
COL11A1	P12107	p.Pro1320Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102914371G>A	NCI-TCGA
COL11A1	P12107	p.Pro1323Ser	rs377044024	missense variant	-	NC_000001.11:g.102914363G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1323Leu	RCV000328768	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102914362G>A	ClinVar
COL11A1	P12107	p.Pro1323Leu	RCV000247078	missense variant	-	NC_000001.11:g.102914362G>A	ClinVar
COL11A1	P12107	p.Pro1323Leu	RCV000364819	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102914362G>A	ClinVar
COL11A1	P12107	p.Pro1323Leu	RCV000270271	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102914362G>A	ClinVar
COL11A1	P12107	p.Pro1323Thr	rs377044024	missense variant	-	NC_000001.11:g.102914363G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1323Leu	rs3753841	missense variant	-	NC_000001.11:g.102914362G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1325Ser	rs1157861513	missense variant	-	NC_000001.11:g.102914357G>A	NCI-TCGA
COL11A1	P12107	p.Pro1325Ser	rs1157861513	missense variant	-	NC_000001.11:g.102914357G>A	TOPMed,gnomAD
COL11A1	P12107	p.Ala1326Thr	rs758156598	missense variant	-	NC_000001.11:g.102914354C>T	NCI-TCGA
COL11A1	P12107	p.Ala1326Thr	rs758156598	missense variant	-	NC_000001.11:g.102914354C>T	ExAC
COL11A1	P12107	p.Ala1326Glu	rs752481470	missense variant	-	NC_000001.11:g.102914353G>T	ExAC,gnomAD
COL11A1	P12107	p.Ala1326Val	VAR_035743	Missense	-	-	UniProt
COL11A1	P12107	p.Gly1327Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102913690C>T	NCI-TCGA
COL11A1	P12107	p.Gly1327Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102913690C>A	NCI-TCGA
COL11A1	P12107	p.Gln1328Lys	rs750014974	missense variant	-	NC_000001.11:g.102913687G>T	ExAC,gnomAD
COL11A1	P12107	p.Gln1328Lys	rs750014974	missense variant	-	NC_000001.11:g.102913687G>T	UniProt,dbSNP
COL11A1	P12107	p.Gln1328Lys	VAR_035744	missense variant	-	NC_000001.11:g.102913687G>T	UniProt
COL11A1	P12107	p.Gln1328Leu	VAR_035745	Missense	-	-	UniProt
COL11A1	P12107	p.Asp1329Glu	rs1392711625	missense variant	-	NC_000001.11:g.102913682A>C	gnomAD
COL11A1	P12107	p.Gly1330Cys	rs559885800	missense variant	-	NC_000001.11:g.102913681C>A	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1330Cys	rs559885800	missense variant	-	NC_000001.11:g.102913681C>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Gly1330Asp	rs547219683	missense variant	-	NC_000001.11:g.102913680C>T	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Asp1334His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102913669C>G	NCI-TCGA
COL11A1	P12107	p.Glu1337Asp	rs1438201626	missense variant	-	NC_000001.11:g.102913658T>G	TOPMed
COL11A1	P12107	p.Asp1338Gly	rs1372635007	missense variant	-	NC_000001.11:g.102913656T>C	gnomAD
COL11A1	P12107	p.Gly1339Arg	rs1191132031	missense variant	-	NC_000001.11:g.102913654C>T	gnomAD
COL11A1	P12107	p.Asp1340Gly	rs368644959	missense variant	-	NC_000001.11:g.102913650T>C	ESP,TOPMed,gnomAD
COL11A1	P12107	p.Pro1341Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102913648G>A	NCI-TCGA
COL11A1	P12107	p.Gly1342Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102913644C>A	NCI-TCGA
COL11A1	P12107	p.Gln1343Lys	COSM674650	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102913642G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln1343Arg	rs145997317	missense variant	-	NC_000001.11:g.102913641T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gln1343Pro	rs145997317	missense variant	-	NC_000001.11:g.102913641T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1344Gln	rs528959090	missense variant	-	NC_000001.11:g.102913638G>T	NCI-TCGA
COL11A1	P12107	p.Pro1344Gln	rs528959090	missense variant	-	NC_000001.11:g.102913638G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1344Leu	rs528959090	missense variant	-	NC_000001.11:g.102913638G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1345Cys	COSM380756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102912212C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1345Arg	rs372293857	missense variant	-	NC_000001.11:g.102912212C>G	ESP,TOPMed
COL11A1	P12107	p.Pro1346Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102912209G>T	NCI-TCGA
COL11A1	P12107	p.Pro1346Ser	rs1233186933	missense variant	-	NC_000001.11:g.102912209G>A	gnomAD
COL11A1	P12107	p.Pro1347Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102912206G>T	NCI-TCGA
COL11A1	P12107	p.Pro1347His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102912205G>T	NCI-TCGA
COL11A1	P12107	p.Pro1347Ser	rs1342453369	missense variant	-	NC_000001.11:g.102912206G>A	gnomAD
COL11A1	P12107	p.Pro1349Leu	rs777133387	missense variant	-	NC_000001.11:g.102912199G>A	ExAC,gnomAD
COL11A1	P12107	p.Gly1351Cys	rs1335494349	missense variant	-	NC_000001.11:g.102912194C>A	gnomAD
COL11A1	P12107	p.Glu1352Asp	rs1306769069	missense variant	-	NC_000001.11:g.102912189C>A	NCI-TCGA
COL11A1	P12107	p.Glu1352Asp	rs1306769069	missense variant	-	NC_000001.11:g.102912189C>A	TOPMed,gnomAD
COL11A1	P12107	p.Ala1353Thr	RCV000399033	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102912188C>T	ClinVar
COL11A1	P12107	p.Ala1353Thr	RCV000352679	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102912188C>T	ClinVar
COL11A1	P12107	p.Ala1353Thr	RCV000288389	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102912188C>T	ClinVar
COL11A1	P12107	p.Ala1353Thr	rs151249006	missense variant	-	NC_000001.11:g.102912188C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1355Leu	rs773288292	missense variant	-	NC_000001.11:g.102912181G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro1356Ser	rs772400369	missense variant	-	NC_000001.11:g.102912179G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1356Gln	rs986400534	missense variant	-	NC_000001.11:g.102912178G>T	TOPMed,gnomAD
COL11A1	P12107	p.Pro1356Arg	rs986400534	missense variant	-	NC_000001.11:g.102912178G>C	TOPMed,gnomAD
COL11A1	P12107	p.Gly1357Cys	rs1173329613	missense variant	-	NC_000001.11:g.102912176C>A	gnomAD
COL11A1	P12107	p.Gly1360Glu	rs1362979459	missense variant	-	NC_000001.11:g.102912166C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1360Glu	rs1362979459	missense variant	-	NC_000001.11:g.102912166C>T	gnomAD
COL11A1	P12107	p.Arg1362Gln	rs1483987605	missense variant	-	NC_000001.11:g.102912160C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1362Ter	RCV000760438	nonsense	-	NC_000001.11:g.102912161G>A	ClinVar
COL11A1	P12107	p.Arg1362Ter	rs755987732	stop gained	-	NC_000001.11:g.102912161G>A	ExAC,gnomAD
COL11A1	P12107	p.Arg1362Gln	rs1483987605	missense variant	-	NC_000001.11:g.102912160C>T	gnomAD
COL11A1	P12107	p.Arg1362Gly	rs755987732	missense variant	-	NC_000001.11:g.102912161G>C	ExAC,gnomAD
COL11A1	P12107	p.Pro1364Ser	COSM4899692	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898991G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1364His	rs746495082	missense variant	-	NC_000001.11:g.102898990G>T	NCI-TCGA
COL11A1	P12107	p.Pro1364Leu	rs746495082	missense variant	-	NC_000001.11:g.102898990G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1364His	rs746495082	missense variant	-	NC_000001.11:g.102898990G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1367Val	RCV000413393	missense variant	-	NC_000001.11:g.102898981G>A	ClinVar
COL11A1	P12107	p.Ala1367Val	rs1057518442	missense variant	-	NC_000001.11:g.102898981G>A	-
COL11A1	P12107	p.Ala1368Ser	rs757857147	missense variant	-	NC_000001.11:g.102898979C>A	ExAC,gnomAD
COL11A1	P12107	p.Ala1368Val	rs1363292349	missense variant	-	NC_000001.11:g.102898978G>A	gnomAD
COL11A1	P12107	p.Gly1369Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898975C>T	NCI-TCGA
COL11A1	P12107	p.Ala1370Glu	COSM674652	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898972G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala1370Thr	rs1322761774	missense variant	-	NC_000001.11:g.102898973C>T	TOPMed,gnomAD
COL11A1	P12107	p.Gln1374Ter	COSM6057233	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102898961G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln1374Arg	rs1003817827	missense variant	-	NC_000001.11:g.102898960T>C	TOPMed,gnomAD
COL11A1	P12107	p.Glu1376Lys	COSM5917098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898955C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys1377Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898951T>C	NCI-TCGA
COL11A1	P12107	p.Lys1377Glu	rs1164045497	missense variant	-	NC_000001.11:g.102898952T>C	gnomAD
COL11A1	P12107	p.Gly1378Cys	rs752294373	missense variant	-	NC_000001.11:g.102898949C>A	NCI-TCGA
COL11A1	P12107	p.Gly1378ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102898950T>-	NCI-TCGA
COL11A1	P12107	p.Gly1378Cys	rs752294373	missense variant	-	NC_000001.11:g.102898949C>A	ExAC
COL11A1	P12107	p.Ala1379Gly	rs764897552	missense variant	-	NC_000001.11:g.102898945G>C	ExAC,gnomAD
COL11A1	P12107	p.Gly1381Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898773C>T	NCI-TCGA
COL11A1	P12107	p.Glu1382LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102898770C>-	NCI-TCGA
COL11A1	P12107	p.Ala1383Glu	rs1294086587	missense variant	-	NC_000001.11:g.102898766G>T	gnomAD
COL11A1	P12107	p.Ala1385Glu	rs1306734276	missense variant	-	NC_000001.11:g.102898760G>T	gnomAD
COL11A1	P12107	p.Gly1387Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898755C>A	NCI-TCGA
COL11A1	P12107	p.Pro1388His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898751G>T	NCI-TCGA
COL11A1	P12107	p.Pro1388Arg	rs1409133245	missense variant	-	NC_000001.11:g.102898751G>C	gnomAD
COL11A1	P12107	p.Gly1390Glu	COSM5938611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898745C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1390Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898746C>T	NCI-TCGA
COL11A1	P12107	p.Lys1391Asn	rs753496492	missense variant	-	NC_000001.11:g.102898741T>A	ExAC
COL11A1	P12107	p.Lys1391Ile	rs1239154521	missense variant	-	NC_000001.11:g.102898742T>A	gnomAD
COL11A1	P12107	p.Thr1392Ile	rs780411112	missense variant	-	NC_000001.11:g.102898739G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr1392Ser	rs780411112	missense variant	-	NC_000001.11:g.102898739G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1393Asp	rs761963308	missense variant	-	NC_000001.11:g.102898736C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1393Ser	rs767950147	missense variant	-	NC_000001.11:g.102898737C>T	ExAC,gnomAD
COL11A1	P12107	p.Val1395Ile	rs148748247	missense variant	-	NC_000001.11:g.102898731C>T	ESP,ExAC,gnomAD
COL11A1	P12107	p.Gly1396Ser	rs763199410	missense variant	-	NC_000001.11:g.102898728C>T	NCI-TCGA
COL11A1	P12107	p.Gly1396Ser	rs763199410	missense variant	-	NC_000001.11:g.102898728C>T	ExAC,gnomAD
COL11A1	P12107	p.Gln1398Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102898722G>A	NCI-TCGA
COL11A1	P12107	p.Gln1398Pro	rs775587076	missense variant	-	NC_000001.11:g.102898721T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1401Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898713C>G	NCI-TCGA
COL11A1	P12107	p.Gly1402Glu	COSM3470440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898709C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys1403Met	COSM4937347	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898706T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1405Arg	rs376137502	missense variant	-	NC_000001.11:g.102898701C>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1405Ser	rs376137502	missense variant	-	NC_000001.11:g.102898701C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1406Ser	rs1254540628	missense variant	-	NC_000001.11:g.102898698G>A	TOPMed,gnomAD
COL11A1	P12107	p.Glu1407Gly	rs1400827817	missense variant	-	NC_000001.11:g.102898694T>C	TOPMed,gnomAD
COL11A1	P12107	p.Gly1408Ser	RCV000488030	missense variant	-	NC_000001.11:g.102898692C>T	ClinVar
COL11A1	P12107	p.Gly1408Ser	RCV000393287	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102898692C>T	ClinVar
COL11A1	P12107	p.Gly1408Ser	RCV000314010	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102898692C>T	ClinVar
COL11A1	P12107	p.Gly1408Ser	RCV000368686	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102898692C>T	ClinVar
COL11A1	P12107	p.Gly1408Ser	rs200496207	missense variant	-	NC_000001.11:g.102898692C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Leu1409Phe	rs1435827751	missense variant	-	NC_000001.11:g.102898689G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu1409Phe	rs1435827751	missense variant	-	NC_000001.11:g.102898689G>A	TOPMed,gnomAD
COL11A1	P12107	p.Arg1410Gln	rs768171353	missense variant	-	NC_000001.11:g.102898685C>T	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1410Gln	rs768171353	missense variant	-	NC_000001.11:g.102898685C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1410Trp	rs778331804	missense variant	-	NC_000001.11:g.102898686G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1410Gly	rs778331804	missense variant	-	NC_000001.11:g.102898686G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1410Pro	rs768171353	missense variant	-	NC_000001.11:g.102898685C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1411Ala	rs1208561621	missense variant	-	NC_000001.11:g.102898682C>G	TOPMed
COL11A1	P12107	p.Ile1412Leu	rs1409930248	missense variant	-	NC_000001.11:g.102898680T>G	gnomAD
COL11A1	P12107	p.Pro1413His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898676G>T	NCI-TCGA
COL11A1	P12107	p.Pro1413Arg	rs1400841435	missense variant	-	NC_000001.11:g.102898676G>C	TOPMed,gnomAD
COL11A1	P12107	p.Gly1414Cys	rs1377996908	missense variant	-	NC_000001.11:g.102898674C>A	TOPMed
COL11A1	P12107	p.Val1416Ala	rs1467256592	missense variant	-	NC_000001.11:g.102898667A>G	gnomAD
COL11A1	P12107	p.Gly1417Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898177C>A	NCI-TCGA
COL11A1	P12107	p.Gly1417Arg	rs752921387	missense variant	-	NC_000001.11:g.102898178C>T	ExAC,gnomAD
COL11A1	P12107	p.Glu1418Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102898175C>A	NCI-TCGA
COL11A1	P12107	p.Ala1424Pro	rs371230505	missense variant	-	NC_000001.11:g.102898157C>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1424Asp	rs1174736601	missense variant	-	NC_000001.11:g.102898156G>T	TOPMed
COL11A1	P12107	p.Ala1424Thr	rs371230505	missense variant	-	NC_000001.11:g.102898157C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1425Thr	COSM1332122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898154C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala1425Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898153G>C	NCI-TCGA
COL11A1	P12107	p.Gln1427Arg	rs1404508468	missense variant	-	NC_000001.11:g.102898147T>C	TOPMed
COL11A1	P12107	p.Asp1428Gly	rs137860254	missense variant	-	NC_000001.11:g.102898144T>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp1428Asn	rs542016016	missense variant	-	NC_000001.11:g.102898145C>T	1000Genomes,gnomAD
COL11A1	P12107	p.Gly1429Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898142C>T	NCI-TCGA
COL11A1	P12107	p.Gly1429Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102898141C>A	NCI-TCGA
COL11A1	P12107	p.Gly1429Glu	rs1331382007	missense variant	-	NC_000001.11:g.102898141C>T	TOPMed
COL11A1	P12107	p.Met1434Val	rs772950506	missense variant	-	NC_000001.11:g.102898127T>C	ExAC,gnomAD
COL11A1	P12107	p.Met1434Thr	rs1160642253	missense variant	-	NC_000001.11:g.102898126A>G	gnomAD
COL11A1	P12107	p.Met1434Ile	rs767308411	missense variant	-	NC_000001.11:g.102898125C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Met1434Ile	rs767308411	missense variant	-	NC_000001.11:g.102898125C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1435Val	COSM674662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102890503C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1435Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102890503C>T	NCI-TCGA
COL11A1	P12107	p.Pro1436Leu	rs1042218810	missense variant	-	NC_000001.11:g.102890500G>A	TOPMed
COL11A1	P12107	p.Pro1436Thr	rs1450778119	missense variant	-	NC_000001.11:g.102890501G>T	gnomAD
COL11A1	P12107	p.Gly1438Ser	rs774243069	missense variant	-	NC_000001.11:g.102890495C>T	ExAC,gnomAD
COL11A1	P12107	p.Leu1439Phe	rs985135508	missense variant	-	NC_000001.11:g.102890490T>A	TOPMed,gnomAD
COL11A1	P12107	p.Pro1440Arg	rs1225478099	missense variant	-	NC_000001.11:g.102890488G>C	gnomAD
COL11A1	P12107	p.Pro1440Thr	rs764069410	missense variant	-	NC_000001.11:g.102890489G>T	ExAC,gnomAD
COL11A1	P12107	p.Gly1441Arg	rs774928560	missense variant	-	NC_000001.11:g.102890486C>G	ExAC,gnomAD
COL11A1	P12107	p.Leu1442Pro	rs1339382600	missense variant	-	NC_000001.11:g.102890482A>G	TOPMed,gnomAD
COL11A1	P12107	p.Lys1443Arg	rs769350133	missense variant	-	NC_000001.11:g.102890479T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Lys1443Thr	rs769350133	missense variant	-	NC_000001.11:g.102890479T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1444Asp	rs1329690523	missense variant	-	NC_000001.11:g.102890476C>T	gnomAD
COL11A1	P12107	p.Pro1446Ser	rs975763978	missense variant	-	NC_000001.11:g.102890471G>A	TOPMed,gnomAD
COL11A1	P12107	p.Pro1446Thr	rs975763978	missense variant	-	NC_000001.11:g.102890471G>T	TOPMed,gnomAD
COL11A1	P12107	p.Lys1449Met	rs1370091017	missense variant	-	NC_000001.11:g.102890461T>A	gnomAD
COL11A1	P12107	p.Glu1451Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102890456C>A	NCI-TCGA
COL11A1	P12107	p.Lys1452Gln	rs776443673	missense variant	-	NC_000001.11:g.102890453T>G	ExAC,gnomAD
COL11A1	P12107	p.Gly1453Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889562C>T	NCI-TCGA
COL11A1	P12107	p.Pro1455Ser	rs184965786	missense variant	-	NC_000001.11:g.102889556G>A	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1455His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889555G>T	NCI-TCGA
COL11A1	P12107	p.Pro1455Leu	rs1248048372	missense variant	-	NC_000001.11:g.102889555G>A	TOPMed
COL11A1	P12107	p.Pro1455Ser	rs184965786	missense variant	-	NC_000001.11:g.102889556G>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Gly1456Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889553C>A	NCI-TCGA
COL11A1	P12107	p.Leu1457Val	COSM4019968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889550A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Ile1458Leu	rs773776234	missense variant	-	NC_000001.11:g.102889547T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1462Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889535C>T	NCI-TCGA
COL11A1	P12107	p.Gly1462Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889534C>G	NCI-TCGA
COL11A1	P12107	p.Pro1463Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889532G>A	NCI-TCGA
COL11A1	P12107	p.Pro1463His	rs202194245	missense variant	-	NC_000001.11:g.102889531G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1463Thr	rs1261468907	missense variant	-	NC_000001.11:g.102889532G>T	TOPMed
COL11A1	P12107	p.Pro1464Leu	rs1342522458	missense variant	-	NC_000001.11:g.102889528G>A	TOPMed,gnomAD
COL11A1	P12107	p.Gln1467Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889520G>C	NCI-TCGA
COL11A1	P12107	p.Gln1467Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889520G>T	NCI-TCGA
COL11A1	P12107	p.Glu1469Lys	COSM3470430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889514C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1469LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102889514C>-	NCI-TCGA
COL11A1	P12107	p.Glu1469Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889513T>C	NCI-TCGA
COL11A1	P12107	p.Glu1469Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102889514C>A	NCI-TCGA
COL11A1	P12107	p.Lys1470Asn	rs1453166184	missense variant	-	NC_000001.11:g.102889509T>G	gnomAD
COL11A1	P12107	p.Gly1471Ser	rs1057522949	missense variant	-	NC_000001.11:g.102889508C>T	TOPMed
COL11A1	P12107	p.Gly1471Ser	RCV000420003	missense variant	-	NC_000001.11:g.102889508C>T	ClinVar
COL11A1	P12107	p.Gly1471ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102889507C>-	NCI-TCGA
COL11A1	P12107	p.Gly1471Ala	rs749419834	missense variant	-	NC_000001.11:g.102889507C>G	ExAC,gnomAD
COL11A1	P12107	p.Asp1472Glu	RCV000385330	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102889503G>T	ClinVar
COL11A1	P12107	p.Asp1472Glu	RCV000659326	missense variant	Connective tissue disorder	NC_000001.11:g.102889503G>T	ClinVar
COL11A1	P12107	p.Asp1472Glu	RCV000263257	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102889503G>T	ClinVar
COL11A1	P12107	p.Asp1472Glu	RCV000179220	missense variant	-	NC_000001.11:g.102889503G>T	ClinVar
COL11A1	P12107	p.Asp1472Glu	RCV000318353	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102889503G>T	ClinVar
COL11A1	P12107	p.Asp1472Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889505C>A	NCI-TCGA
COL11A1	P12107	p.Asp1472Glu	rs55821405	missense variant	-	NC_000001.11:g.102889503G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1473Gln	rs369947899	missense variant	-	NC_000001.11:g.102889501C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1473Ter	rs1185917760	stop gained	-	NC_000001.11:g.102889502G>A	TOPMed
COL11A1	P12107	p.Leu1475Phe	rs758235552	missense variant	-	NC_000001.11:g.102889496G>A	ExAC,gnomAD
COL11A1	P12107	p.Thr1478Ser	COSM1320199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889487T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln1479Arg	rs765257116	missense variant	-	NC_000001.11:g.102889483T>C	ExAC,gnomAD
COL11A1	P12107	p.Gly1480Arg	COSM462493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889481C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1480AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102889480C>-	NCI-TCGA
COL11A1	P12107	p.Gly1480Val	rs759091446	missense variant	-	NC_000001.11:g.102889480C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1480Glu	rs759091446	missense variant	-	NC_000001.11:g.102889480C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser1481Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102889477G>C	NCI-TCGA
COL11A1	P12107	p.Pro1482Leu	rs1246567657	missense variant	-	NC_000001.11:g.102889474G>A	gnomAD
COL11A1	P12107	p.Gly1483Ter	COSM674664	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102889472C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala1484Thr	rs1451135643	missense variant	-	NC_000001.11:g.102889469C>T	TOPMed
COL11A1	P12107	p.Ala1484Gly	rs760349942	missense variant	-	NC_000001.11:g.102889468G>C	ExAC,gnomAD
COL11A1	P12107	p.Asp1487Tyr	COSM6120288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889460C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1489Arg	COSM6009391	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888919C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ile1490Val	RCV000306668	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102888916T>C	ClinVar
COL11A1	P12107	p.Ile1490Val	RCV000270328	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102888916T>C	ClinVar
COL11A1	P12107	p.Ile1490Val	RCV000364746	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102888916T>C	ClinVar
COL11A1	P12107	p.Ile1490Val	rs145901197	missense variant	-	NC_000001.11:g.102888916T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1491Thr	rs762071331	missense variant	-	NC_000001.11:g.102888913G>T	ExAC,gnomAD
COL11A1	P12107	p.Pro1493Ala	rs774846193	missense variant	-	NC_000001.11:g.102888907G>C	ExAC,gnomAD
COL11A1	P12107	p.Ala1494Thr	rs1362365012	missense variant	-	NC_000001.11:g.102888904C>T	gnomAD
COL11A1	P12107	p.Ala1494Val	rs764371952	missense variant	-	NC_000001.11:g.102888903G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1495Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102888901C>A	NCI-TCGA
COL11A1	P12107	p.Pro1499Ser	RCV000310065	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102888889G>A	ClinVar
COL11A1	P12107	p.Pro1499Ser	RCV000399173	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102888889G>A	ClinVar
COL11A1	P12107	p.Pro1499Ser	RCV000359094	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102888889G>A	ClinVar
COL11A1	P12107	p.Pro1499Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102888889G>T	NCI-TCGA
COL11A1	P12107	p.Pro1499Ser	rs199952288	missense variant	-	NC_000001.11:g.102888889G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1502Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102888879G>A	NCI-TCGA
COL11A1	P12107	p.Pro1503Arg	rs528529875	missense variant	-	NC_000001.11:g.102888876G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1503Leu	rs528529875	missense variant	-	NC_000001.11:g.102888876G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1506Ser	rs779536838	missense variant	-	NC_000001.11:g.102888868G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro1506Arg	rs994706812	missense variant	-	NC_000001.11:g.102888867G>C	TOPMed
COL11A1	P12107	p.Pro1506Thr	rs779536838	missense variant	-	NC_000001.11:g.102888868G>T	ExAC,gnomAD
COL11A1	P12107	p.Gly1507Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102888757C>A	NCI-TCGA
COL11A1	P12107	p.Pro1508Leu	COSM893104	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888754G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gln1509Pro	RCV000444944	missense variant	-	NC_000001.11:g.102888751T>G	ClinVar
COL11A1	P12107	p.Gln1509Pro	rs1057521422	missense variant	-	NC_000001.11:g.102888751T>G	gnomAD
COL11A1	P12107	p.Pro1511GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.102888745G>-	NCI-TCGA
COL11A1	P12107	p.Lys1512Thr	rs1431878156	missense variant	-	NC_000001.11:g.102888742T>G	TOPMed
COL11A1	P12107	p.Gly1513Asp	RCV000523421	missense variant	-	NC_000001.11:g.102888739C>T	ClinVar
COL11A1	P12107	p.Gly1513Cys	COSM6057237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888740C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1513Asp	rs1553193913	missense variant	-	NC_000001.11:g.102888739C>T	-
COL11A1	P12107	p.Gly1513Asp	rs1553193913	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.102888739C>T	UniProt,dbSNP
COL11A1	P12107	p.Gly1513Asp	VAR_063678	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.102888739C>T	UniProt
COL11A1	P12107	p.Asn1514Lys	rs1468589956	missense variant	-	NC_000001.11:g.102888735G>T	TOPMed
COL11A1	P12107	p.Lys1515Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102888734T>C	NCI-TCGA
COL11A1	P12107	p.Gly1516Val	RCV000624108	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102888730C>A	ClinVar
COL11A1	P12107	p.Gly1516Val	rs1553193910	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.102888730C>A	UniProt,dbSNP
COL11A1	P12107	p.Gly1516Val	VAR_013587	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.102888730C>A	UniProt
COL11A1	P12107	p.Thr1518Pro	RCV000421756	missense variant	-	NC_000001.11:g.102888725T>G	ClinVar
COL11A1	P12107	p.Thr1518Pro	rs1057523166	missense variant	-	NC_000001.11:g.102888725T>G	-
COL11A1	P12107	p.Gly1519Val	COSM6120290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888629C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1519Glu	COSM3360177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888629C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1520His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102888626G>T	NCI-TCGA
COL11A1	P12107	p.Pro1520Thr	rs1365998148	missense variant	-	NC_000001.11:g.102888627G>T	TOPMed,gnomAD
COL11A1	P12107	p.Ala1521Thr	rs769920499	missense variant	-	NC_000001.11:g.102888624C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gln1523Ter	rs1254394380	stop gained	-	NC_000001.11:g.102888618G>A	gnomAD
COL11A1	P12107	p.Ser1527Arg	rs146997967	missense variant	-	NC_000001.11:g.102888604A>T	ESP,ExAC,gnomAD
COL11A1	P12107	p.Ser1527Cys	rs745798375	missense variant	-	NC_000001.11:g.102888606T>A	ExAC,gnomAD
COL11A1	P12107	p.Leu1529Pro	rs578137786	missense variant	-	NC_000001.11:g.102888599A>G	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1532Ala	RCV000279813	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102888591G>C	ClinVar
COL11A1	P12107	p.Pro1532Ala	RCV000338595	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102888591G>C	ClinVar
COL11A1	P12107	p.Pro1532Ala	RCV000395192	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102888591G>C	ClinVar
COL11A1	P12107	p.Pro1532Ala	rs140954784	missense variant	-	NC_000001.11:g.102888591G>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1532Ser	rs140954784	missense variant	-	NC_000001.11:g.102888591G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1532Thr	rs140954784	missense variant	-	NC_000001.11:g.102888591G>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1533Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102888588G>T	NCI-TCGA
COL11A1	P12107	p.Ser1535Pro	RCV000018675	missense variant	Lumbar disc herniation, susceptibility to	NC_000001.11:g.102888582A>G	ClinVar
COL11A1	P12107	p.Ser1535Thr	rs1676486	missense variant	-	NC_000001.11:g.102888582A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser1535Pro	rs1676486	missense variant	-	NC_000001.11:g.102888582A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1536Ala	RCV000424224	missense variant	-	NC_000001.11:g.102888579G>C	ClinVar
COL11A1	P12107	p.Pro1536Ala	RCV000224103	missense variant	-	NC_000001.11:g.102888579G>C	ClinVar
COL11A1	P12107	p.Pro1536Ala	rs139064549	missense variant	-	NC_000001.11:g.102888579G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1537Cys	COSM893102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102887056C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1537Ser	rs1425339729	missense variant	-	NC_000001.11:g.102887056C>T	gnomAD
COL11A1	P12107	p.Pro1538Gln	rs1474325280	missense variant	-	NC_000001.11:g.102887052G>T	NCI-TCGA
COL11A1	P12107	p.Pro1538Ala	rs749767116	missense variant	-	NC_000001.11:g.102887053G>C	ExAC,gnomAD
COL11A1	P12107	p.Pro1538Ser	rs749767116	missense variant	-	NC_000001.11:g.102887053G>A	ExAC,gnomAD
COL11A1	P12107	p.Pro1538Gln	rs1474325280	missense variant	-	NC_000001.11:g.102887052G>T	gnomAD
COL11A1	P12107	p.Pro1539Ser	rs1374575593	missense variant	-	NC_000001.11:g.102887050G>A	TOPMed,gnomAD
COL11A1	P12107	p.Pro1539Arg	rs1052910271	missense variant	-	NC_000001.11:g.102887049G>C	TOPMed
COL11A1	P12107	p.Gly1540Asp	rs1432536379	missense variant	-	NC_000001.11:g.102887046C>T	gnomAD
COL11A1	P12107	p.Gly1540Arg	rs933062306	missense variant	-	NC_000001.11:g.102887047C>G	TOPMed,gnomAD
COL11A1	P12107	p.Gly1540Ser	rs933062306	missense variant	-	NC_000001.11:g.102887047C>T	TOPMed,gnomAD
COL11A1	P12107	p.Val1542Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102887041C>A	NCI-TCGA
COL11A1	P12107	p.Val1542Ile	rs754341755	missense variant	-	NC_000001.11:g.102887041C>T	ExAC,gnomAD
COL11A1	P12107	p.Ile1543Leu	RCV000319120	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102887038T>G	ClinVar
COL11A1	P12107	p.Ile1543Leu	RCV000366831	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102887038T>G	ClinVar
COL11A1	P12107	p.Ile1543Leu	RCV000272047	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102887038T>G	ClinVar
COL11A1	P12107	p.Ile1543Leu	rs558548172	missense variant	-	NC_000001.11:g.102887038T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile1543Val	rs558548172	missense variant	-	NC_000001.11:g.102887038T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gln1544Ter	COSM3470428	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102887035G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1545Ser	rs1490364715	missense variant	-	NC_000001.11:g.102887032G>A	gnomAD
COL11A1	P12107	p.Pro1545Leu	rs1266607435	missense variant	-	NC_000001.11:g.102887031G>A	TOPMed
COL11A1	P12107	p.Ile1548Val	RCV000729010	missense variant	-	NC_000001.11:g.102887023T>C	ClinVar
COL11A1	P12107	p.Ile1548Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102887023T>A	NCI-TCGA
COL11A1	P12107	p.Ile1548Thr	rs760798511	missense variant	-	NC_000001.11:g.102887022A>G	ExAC,gnomAD
COL11A1	P12107	p.Ser1550Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102887016G>A	NCI-TCGA
COL11A1	P12107	p.Ser1550Pro	rs1204675708	missense variant	-	NC_000001.11:g.102887017A>G	TOPMed,gnomAD
COL11A1	P12107	p.Ser1551Thr	rs762069759	missense variant	-	NC_000001.11:g.102887014A>T	ExAC,gnomAD
COL11A1	P12107	p.Lys1552Ter	rs934399446	stop gained	-	NC_000001.11:g.102887011T>A	TOPMed
COL11A1	P12107	p.Thr1554Met	RCV000498209	missense variant	-	NC_000001.11:g.102887004G>A	ClinVar
COL11A1	P12107	p.Thr1554ArgPheSerTerUnkUnk	COSM1332118	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102887005T>-	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr1554AsnPheSerTerUnk	COSM1953794	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102887004_102887005insT	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr1554Met	rs759287748	missense variant	-	NC_000001.11:g.102887004G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr1554Lys	rs759287748	missense variant	-	NC_000001.11:g.102887004G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1555Ser	rs149516921	missense variant	-	NC_000001.11:g.102887000T>A	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr1558Pro	COSM5157272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886993T>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr1558Ala	rs144404767	missense variant	-	NC_000001.11:g.102886993T>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1560Asp	rs1465324011	missense variant	-	NC_000001.11:g.102886986C>T	gnomAD
COL11A1	P12107	p.Gly1560Cys	COSM674666	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886987C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1560Ser	COSM3862055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886987C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1560Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102886986C>A	NCI-TCGA
COL11A1	P12107	p.Met1561Ile	rs1480517646	missense variant	-	NC_000001.11:g.102886982C>T	gnomAD
COL11A1	P12107	p.Met1561Val	rs747747101	missense variant	-	NC_000001.11:g.102886984T>C	ExAC,gnomAD
COL11A1	P12107	p.Met1561Thr	rs778579185	missense variant	-	NC_000001.11:g.102886983A>G	ExAC,gnomAD
COL11A1	P12107	p.Gln1562His	COSM893100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886979T>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1564Glu	rs377486490	missense variant	-	NC_000001.11:g.102886973A>C	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1565Val	COSM4019964	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886971G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala1565Ser	COSM6057241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886972C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala1565Thr	rs749676525	missense variant	-	NC_000001.11:g.102886972C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp1566Tyr	rs780611200	missense variant	-	NC_000001.11:g.102886969C>A	ExAC,gnomAD
COL11A1	P12107	p.Asp1566Tyr	rs780611200	missense variant	-	NC_000001.11:g.102886969C>A	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1567Gly	rs756511227	missense variant	-	NC_000001.11:g.102886965T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile1569Thr	rs767658281	missense variant	-	NC_000001.11:g.102886959A>G	ExAC,gnomAD
COL11A1	P12107	p.Leu1570Ile	rs1224654721	missense variant	-	NC_000001.11:g.102886957G>T	NCI-TCGA
COL11A1	P12107	p.Leu1570Pro	rs558265763	missense variant	-	NC_000001.11:g.102886956A>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Leu1570Ile	rs1224654721	missense variant	-	NC_000001.11:g.102886957G>T	gnomAD
COL11A1	P12107	p.Asp1571Tyr	rs1277867710	missense variant	-	NC_000001.11:g.102886954C>A	gnomAD
COL11A1	P12107	p.Ser1573Leu	RCV000443614	missense variant	-	NC_000001.11:g.102886947G>A	ClinVar
COL11A1	P12107	p.Ser1573Leu	rs143531636	missense variant	-	NC_000001.11:g.102886947G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser1573Pro	rs865904271	missense variant	-	NC_000001.11:g.102886948A>G	TOPMed,gnomAD
COL11A1	P12107	p.Asp1574Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102886943A>T	NCI-TCGA
COL11A1	P12107	p.Asp1574Ala	rs1264711178	missense variant	-	NC_000001.11:g.102886944T>G	TOPMed
COL11A1	P12107	p.Gly1575Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102886942C>T	NCI-TCGA
COL11A1	P12107	p.Met1576Ile	RCV000359724	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102886937C>A	ClinVar
COL11A1	P12107	p.Met1576Ile	RCV000302457	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102886937C>A	ClinVar
COL11A1	P12107	p.Met1576Ile	RCV000390149	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102886937C>A	ClinVar
COL11A1	P12107	p.Met1576Ile	rs886044974	missense variant	-	NC_000001.11:g.102886937C>A	-
COL11A1	P12107	p.Glu1577Lys	COSM4405972	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886936C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1577Gly	rs1451702521	missense variant	-	NC_000001.11:g.102886935T>C	gnomAD
COL11A1	P12107	p.Glu1578Gln	rs776356995	missense variant	-	NC_000001.11:g.102886933C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe1580Leu	rs766197307	missense variant	-	NC_000001.11:g.102886927A>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1581Ala	rs773151919	missense variant	-	NC_000001.11:g.102886923C>G	ExAC,gnomAD
COL11A1	P12107	p.Gly1581Cys	rs760545137	missense variant	-	NC_000001.11:g.102886924C>A	ExAC,gnomAD
COL11A1	P12107	p.Asn1584Tyr	rs1470853407	missense variant	-	NC_000001.11:g.102886915T>A	TOPMed,gnomAD
COL11A1	P12107	p.Asn1584Asp	rs1470853407	missense variant	-	NC_000001.11:g.102886915T>C	TOPMed,gnomAD
COL11A1	P12107	p.Ser1585Phe	COSM3470424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886911G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1589Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102886899T>C	NCI-TCGA
COL11A1	P12107	p.Asp1589Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102886900C>A	NCI-TCGA
COL11A1	P12107	p.Asp1589His	rs774042103	missense variant	-	NC_000001.11:g.102886900C>G	ExAC,gnomAD
COL11A1	P12107	p.Ile1590Met	rs2229783	missense variant	-	NC_000001.11:g.102886895A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile1590Val	rs1245338776	missense variant	-	NC_000001.11:g.102886897T>C	gnomAD
COL11A1	P12107	p.Glu1591Lys	rs1282721396	missense variant	-	NC_000001.11:g.102886894C>T	gnomAD
COL11A1	P12107	p.His1592Arg	rs780226288	missense variant	-	NC_000001.11:g.102886890T>C	ExAC,gnomAD
COL11A1	P12107	p.Met1593Ile	COSM1688140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886886C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Met1593Ile	COSM4841177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886886C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Met1593Leu	COSM266284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886888T>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Met1593Leu	rs756569514	missense variant	-	NC_000001.11:g.102886888T>A	ExAC,gnomAD
COL11A1	P12107	p.Pro1596Leu	rs746338126	missense variant	-	NC_000001.11:g.102886878G>A	ExAC,gnomAD
COL11A1	P12107	p.Met1597Val	rs781775130	missense variant	-	NC_000001.11:g.102886876T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1598Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102886872C>T	NCI-TCGA
COL11A1	P12107	p.Gly1598Ser	rs757388014	missense variant	-	NC_000001.11:g.102886873C>T	ExAC,gnomAD
COL11A1	P12107	p.Thr1599Ile	rs751745544	missense variant	-	NC_000001.11:g.102886869G>A	NCI-TCGA
COL11A1	P12107	p.Thr1599Ile	rs751745544	missense variant	-	NC_000001.11:g.102886869G>A	ExAC,gnomAD
COL11A1	P12107	p.Gln1600Glu	rs1022306561	missense variant	-	NC_000001.11:g.102886867G>C	TOPMed
COL11A1	P12107	p.Thr1601Asn	RCV000439022	missense variant	-	NC_000001.11:g.102886863G>T	ClinVar
COL11A1	P12107	p.Thr1601Asn	rs143206624	missense variant	-	NC_000001.11:g.102886863G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr1601Ile	rs143206624	missense variant	-	NC_000001.11:g.102886863G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn1602Ser	rs75495145	missense variant	-	NC_000001.11:g.102886860T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn1602Thr	rs75495145	missense variant	-	NC_000001.11:g.102886860T>G	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn1602Ser	RCV000397331	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102886860T>C	ClinVar
COL11A1	P12107	p.Asn1602Ser	RCV000295104	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102886860T>C	ClinVar
COL11A1	P12107	p.Asn1602Ser	RCV000352398	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102886860T>C	ClinVar
COL11A1	P12107	p.Pro1603Ala	rs1401981859	missense variant	-	NC_000001.11:g.102886858G>C	gnomAD
COL11A1	P12107	p.Ala1604Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102886855C>A	NCI-TCGA
COL11A1	P12107	p.Ala1604Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102886854G>T	NCI-TCGA
COL11A1	P12107	p.Arg1605Gln	rs371100196	missense variant	-	NC_000001.11:g.102886851C>T	NCI-TCGA,NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1605Ter	rs1162597563	stop gained	-	NC_000001.11:g.102886852G>A	gnomAD
COL11A1	P12107	p.Arg1605Gln	rs371100196	missense variant	-	NC_000001.11:g.102886851C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1605Leu	rs371100196	missense variant	-	NC_000001.11:g.102886851C>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asp1609Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102886840C>A	NCI-TCGA
COL11A1	P12107	p.Leu1610Met	COSM6120292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886837G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.His1614Tyr	COSM3470422	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886825G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.His1614GlyProGlnLysGluProThrLeuLeuThrProCysSerArgThrSerSerHis	NCI-TCGA novel	insertion	-	NC_000001.11:g.102886822_102886823insATGGCTAGAAGTCCTAGAACAAGGTGTCAGCAGTGTTGGTTCCTTCTGAGGTCC	NCI-TCGA
COL11A1	P12107	p.Pro1615His	COSM674668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886821G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Phe1617Leu	rs1449189271	missense variant	-	NC_000001.11:g.102886814G>C	gnomAD
COL11A1	P12107	p.Phe1617Leu	rs1449189271	missense variant	-	NC_000001.11:g.102886814G>T	gnomAD
COL11A1	P12107	p.Asp1619Gly	rs1240915709	missense variant	-	NC_000001.11:g.102886809T>C	gnomAD
COL11A1	P12107	p.Gly1620Cys	rs1226298528	missense variant	-	NC_000001.11:g.102886807C>A	TOPMed
COL11A1	P12107	p.Glu1621Gly	rs769627169	missense variant	-	NC_000001.11:g.102883308T>C	ExAC
COL11A1	P12107	p.Glu1621Lys	COSM4019960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102883309C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Trp1623Arg	COSM3470420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102883303A>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1625Tyr	rs78368739	missense variant	-	NC_000001.11:g.102883297C>A	ExAC,gnomAD
COL11A1	P12107	p.Asp1625Asn	rs78368739	missense variant	-	NC_000001.11:g.102883297C>T	ExAC,gnomAD
COL11A1	P12107	p.Pro1626Ser	rs377036654	missense variant	-	NC_000001.11:g.102883294G>A	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1626Ser	RCV000659327	missense variant	Connective tissue disorder	NC_000001.11:g.102883294G>A	ClinVar
COL11A1	P12107	p.Gln1628Pro	rs1478740175	missense variant	-	NC_000001.11:g.102883287T>G	TOPMed
COL11A1	P12107	p.Gly1629Cys	rs771436179	missense variant	-	NC_000001.11:g.102883285C>A	ExAC,gnomAD
COL11A1	P12107	p.Gly1629Val	rs372504909	missense variant	-	NC_000001.11:g.102883284C>A	ESP,TOPMed
COL11A1	P12107	p.Gly1632Arg	COSM4402576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102883276C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1633Asn	rs1303443553	missense variant	-	NC_000001.11:g.102883273C>T	TOPMed,gnomAD
COL11A1	P12107	p.Lys1636Glu	RCV000387059	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102883264T>C	ClinVar
COL11A1	P12107	p.Lys1636Glu	RCV000282423	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102883264T>C	ClinVar
COL11A1	P12107	p.Lys1636Glu	RCV000330395	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102883264T>C	ClinVar
COL11A1	P12107	p.Lys1636Glu	rs886044973	missense variant	-	NC_000001.11:g.102883264T>C	TOPMed
COL11A1	P12107	p.Lys1636Asn	rs1441045737	missense variant	-	NC_000001.11:g.102883262T>A	gnomAD
COL11A1	P12107	p.Lys1636Gln	rs886044973	missense variant	-	NC_000001.11:g.102883264T>G	TOPMed
COL11A1	P12107	p.Val1637Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102883260A>T	NCI-TCGA
COL11A1	P12107	p.Thr1642Ile	rs1173031118	missense variant	-	NC_000001.11:g.102883245G>A	TOPMed,gnomAD
COL11A1	P12107	p.Ser1643Cys	rs772011676	missense variant	-	NC_000001.11:g.102883242G>C	ExAC,gnomAD
COL11A1	P12107	p.Ser1643Pro	rs1323227249	missense variant	-	NC_000001.11:g.102883243A>G	TOPMed
COL11A1	P12107	p.Gly1645Ser	rs1224491443	missense variant	-	NC_000001.11:g.102883237C>T	gnomAD
COL11A1	P12107	p.Glu1646Ter	COSM6057243	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102883234C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1646Asp	rs1481500191	missense variant	-	NC_000001.11:g.102883232C>G	TOPMed,gnomAD
COL11A1	P12107	p.Ile1649Val	rs779106317	missense variant	-	NC_000001.11:g.102883225T>C	ExAC,gnomAD
COL11A1	P12107	p.Tyr1650Phe	rs184088500	missense variant	-	NC_000001.11:g.102883221T>A	1000Genomes,ESP,ExAC,gnomAD
COL11A1	P12107	p.Pro1651Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102883219G>A	NCI-TCGA
COL11A1	P12107	p.Asp1652Tyr	rs1282435873	missense variant	-	NC_000001.11:g.102883216C>A	gnomAD
COL11A1	P12107	p.Asp1652Asn	rs1282435873	missense variant	-	NC_000001.11:g.102883216C>T	gnomAD
COL11A1	P12107	p.Lys1653Glu	rs1276832651	missense variant	-	NC_000001.11:g.102883213T>C	TOPMed
COL11A1	P12107	p.Lys1654Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102883210T>G	NCI-TCGA
COL11A1	P12107	p.Glu1656Ter	COSM6120294	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102883204C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1657Arg	rs780916396	missense variant	-	NC_000001.11:g.102883201C>T	ExAC
COL11A1	P12107	p.Val1658Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102881765C>A	NCI-TCGA
COL11A1	P12107	p.Ser1661Leu	COSM1953779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881755G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser1662Thr	COSM4946935	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881753A>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser1662Ter	COSM527042	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102881752G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser1662Leu	rs956233074	missense variant	-	NC_000001.11:g.102881752G>A	TOPMed
COL11A1	P12107	p.Trp1663Cys	COSM674672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881748C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Trp1663Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102881749C>A	NCI-TCGA
COL11A1	P12107	p.Trp1663Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102881748C>T	NCI-TCGA
COL11A1	P12107	p.Lys1665Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102881742C>A	NCI-TCGA
COL11A1	P12107	p.Glu1666Asp	COSM1332112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881739C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1666Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102881741C>T	NCI-TCGA
COL11A1	P12107	p.Pro1668Thr	COSM6120296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881735G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Pro1668Leu	RCV000322956	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102881734G>A	ClinVar
COL11A1	P12107	p.Pro1668Leu	RCV000265566	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102881734G>A	ClinVar
COL11A1	P12107	p.Pro1668Leu	RCV000361283	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102881734G>A	ClinVar
COL11A1	P12107	p.Pro1668Leu	rs541676352	missense variant	-	NC_000001.11:g.102881734G>A	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Pro1668Ala	rs1223983975	missense variant	-	NC_000001.11:g.102881735G>C	gnomAD
COL11A1	P12107	p.Pro1668Ser	rs1223983975	missense variant	-	NC_000001.11:g.102881735G>A	gnomAD
COL11A1	P12107	p.Gly1669Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102881731C>T	NCI-TCGA
COL11A1	P12107	p.Ser1670Ile	rs1313374505	missense variant	-	NC_000001.11:g.102881728C>A	gnomAD
COL11A1	P12107	p.Trp1671Cys	rs746882221	missense variant	-	NC_000001.11:g.102881724C>A	ExAC,gnomAD
COL11A1	P12107	p.Ser1673Arg	rs1222967794	missense variant	-	NC_000001.11:g.102881720T>G	TOPMed
COL11A1	P12107	p.Glu1674Ter	COSM893094	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102881717C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Phe1675Cys	COSM1667755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881713A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1678Glu	COSM1688134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881704C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu1684Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102879905T>A	NCI-TCGA
COL11A1	P12107	p.Leu1684Phe	rs1289194467	missense variant	-	NC_000001.11:g.102879905T>G	gnomAD
COL11A1	P12107	p.Asp1685Tyr	COSM5117290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879904C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Val1686Ala	rs1224243338	missense variant	-	NC_000001.11:g.102879900A>G	gnomAD
COL11A1	P12107	p.Gly1688Arg	rs769774427	missense variant	-	NC_000001.11:g.102879895C>T	ExAC,gnomAD
COL11A1	P12107	p.Ser1690Pro	rs146837973	missense variant	-	NC_000001.11:g.102879889A>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ile1691Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102879885A>G	NCI-TCGA
COL11A1	P12107	p.Ile1691Met	rs776745225	missense variant	-	NC_000001.11:g.102879884G>C	ExAC,gnomAD
COL11A1	P12107	p.Asn1692Ile	rs771869146	missense variant	-	NC_000001.11:g.102879882T>A	ExAC
COL11A1	P12107	p.Met1693Val	rs375417316	missense variant	-	NC_000001.11:g.102879880T>C	ESP,TOPMed,gnomAD
COL11A1	P12107	p.Val1694Ala	rs1404456235	missense variant	-	NC_000001.11:g.102879876A>G	gnomAD
COL11A1	P12107	p.Val1694Met	rs1279366824	missense variant	-	NC_000001.11:g.102879877C>T	gnomAD
COL11A1	P12107	p.Met1696Ile	rs778979098	missense variant	-	NC_000001.11:g.102879869C>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr1697Ala	COSM4019956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879868T>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Phe1698Leu	rs768649832	missense variant	-	NC_000001.11:g.102879863G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Lys1700Thr	rs749253142	missense variant	-	NC_000001.11:g.102879858T>G	ExAC,gnomAD
COL11A1	P12107	p.Leu1701Arg	COSM893092	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879855A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Leu1701Phe	rs779569161	missense variant	-	NC_000001.11:g.102879856G>A	ExAC,gnomAD
COL11A1	P12107	p.Thr1703Ser	rs1460230830	missense variant	-	NC_000001.11:g.102879849G>C	gnomAD
COL11A1	P12107	p.Ala1704Asp	COSM6120298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879846G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ala1704Thr	rs755611133	missense variant	-	NC_000001.11:g.102879847C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser1705Thr	rs1171259574	missense variant	-	NC_000001.11:g.102879844A>T	gnomAD
COL11A1	P12107	p.Ala1706Val	rs780760098	missense variant	-	NC_000001.11:g.102879840G>A	ExAC,gnomAD
COL11A1	P12107	p.Ala1706Thr	rs750062798	missense variant	-	NC_000001.11:g.102879841C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1707Gln	rs751989395	missense variant	-	NC_000001.11:g.102879837C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1707Trp	rs757608461	missense variant	-	NC_000001.11:g.102879838G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Asn1709His	COSM4019954	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879832T>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Asn1709IlePheSerTerUnkUnk	COSM1332108	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102879831T>-	NCI-TCGA Cosmic
COL11A1	P12107	p.Asn1709Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102879830A>C	NCI-TCGA
COL11A1	P12107	p.Phe1710Val	COSM1248713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879829A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Phe1710Ser	rs1249324579	missense variant	-	NC_000001.11:g.102879828A>G	gnomAD
COL11A1	P12107	p.Thr1711Ile	rs139920081	missense variant	-	NC_000001.11:g.102879825G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr1711Pro	rs764443866	missense variant	-	NC_000001.11:g.102879826T>G	ExAC,gnomAD
COL11A1	P12107	p.His1715Leu	rs199576799	missense variant	-	NC_000001.11:g.102879813T>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gln1716Glu	rs1243948692	missense variant	-	NC_000001.11:g.102879811G>C	TOPMed
COL11A1	P12107	p.Ser1717Thr	rs1321965694	missense variant	-	NC_000001.11:g.102879808A>T	gnomAD
COL11A1	P12107	p.Ala1718Val	rs1285281134	missense variant	-	NC_000001.11:g.102879804G>A	gnomAD
COL11A1	P12107	p.Ala1719Gly	rs759574079	missense variant	-	NC_000001.11:g.102879801G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1719Ser	rs1280105242	missense variant	-	NC_000001.11:g.102879802C>A	TOPMed
COL11A1	P12107	p.Trp1720Ter	COSM3470416	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102879798C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Trp1720Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102879799A>T	NCI-TCGA
COL11A1	P12107	p.Asp1722Asn	rs1266404176	missense variant	-	NC_000001.11:g.102879793C>T	TOPMed
COL11A1	P12107	p.Val1723Gly	rs776889654	missense variant	-	NC_000001.11:g.102879789A>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser1724Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.102879786G>T	NCI-TCGA
COL11A1	P12107	p.Ser1727Arg	COSM1172001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879778T>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Tyr1728Cys	rs1389498908	missense variant	-	NC_000001.11:g.102879774T>C	TOPMed,gnomAD
COL11A1	P12107	p.Ala1731Thr	rs924463224	missense variant	-	NC_000001.11:g.102879766C>T	TOPMed
COL11A1	P12107	p.Arg1733His	RCV000271060	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102879759C>T	ClinVar
COL11A1	P12107	p.Arg1733Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102879759C>A	NCI-TCGA
COL11A1	P12107	p.Arg1733His	RCV000309814	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102879759C>T	ClinVar
COL11A1	P12107	p.Arg1733His	RCV000179660	missense variant	-	NC_000001.11:g.102879759C>T	ClinVar
COL11A1	P12107	p.Arg1733His	RCV000357636	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102879759C>T	ClinVar
COL11A1	P12107	p.Arg1733Cys	rs761693797	missense variant	-	NC_000001.11:g.102879760G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1733His	rs140250347	missense variant	-	NC_000001.11:g.102879759C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1736Ter	COSM5083881	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102879751C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1736Glu	rs866215170	missense variant	-	NC_000001.11:g.102879750C>T	-
COL11A1	P12107	p.Ser1737Ala	COSM893088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879748A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser1737Ter	rs1156335902	stop gained	-	NC_000001.11:g.102879747G>C	TOPMed
COL11A1	P12107	p.Glu1740Asp	rs1410685406	missense variant	-	NC_000001.11:g.102879737C>A	TOPMed
COL11A1	P12107	p.Glu1741Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102879736C>G	NCI-TCGA
COL11A1	P12107	p.Glu1741Asp	rs370598483	missense variant	-	NC_000001.11:g.102879734C>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu1741Lys	rs1177996327	missense variant	-	NC_000001.11:g.102879736C>T	gnomAD
COL11A1	P12107	p.Glu1741Gly	rs768596501	missense variant	-	NC_000001.11:g.102879735T>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu1741Ala	rs768596501	missense variant	-	NC_000001.11:g.102879735T>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Met1742Ile	rs1179221276	missense variant	-	NC_000001.11:g.102879731C>T	gnomAD
COL11A1	P12107	p.Ser1743Phe	rs1399753907	missense variant	-	NC_000001.11:g.102879729G>A	TOPMed
COL11A1	P12107	p.Tyr1744Cys	rs769329430	missense variant	-	NC_000001.11:g.102879726T>C	ExAC,gnomAD
COL11A1	P12107	p.Tyr1744Phe	rs769329430	missense variant	-	NC_000001.11:g.102879726T>A	ExAC,gnomAD
COL11A1	P12107	p.Asn1746Ser	rs780895611	missense variant	-	NC_000001.11:g.102879720T>C	ExAC,gnomAD
COL11A1	P12107	p.Asn1746Asp	rs745431051	missense variant	-	NC_000001.11:g.102879721T>C	ExAC,gnomAD
COL11A1	P12107	p.Pro1748Leu	COSM5377058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879714G>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Ile1750Ser	COSM1320201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879708A>C	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys1751Asn	rs544444081	missense variant	-	NC_000001.11:g.102879704T>G	1000Genomes,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Thr1752Lys	COSM5143754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879702G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Thr1752Ile	rs746676128	missense variant	-	NC_000001.11:g.102879702G>A	ExAC,gnomAD
COL11A1	P12107	p.Leu1753Pro	rs1350002806	missense variant	-	NC_000001.11:g.102879699A>G	TOPMed,gnomAD
COL11A1	P12107	p.Tyr1754Cys	rs778059956	missense variant	-	NC_000001.11:g.102879696T>C	ExAC,gnomAD
COL11A1	P12107	p.Asp1755Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102879694C>A	NCI-TCGA
COL11A1	P12107	p.Ala1758Val	RCV000319720	missense variant	-	NC_000001.11:g.102879684G>A	ClinVar
COL11A1	P12107	p.Ala1758Thr	rs1337474708	missense variant	-	NC_000001.11:g.102879685C>T	TOPMed
COL11A1	P12107	p.Ala1758Glu	rs202065765	missense variant	-	NC_000001.11:g.102879684G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ala1758Val	rs202065765	missense variant	-	NC_000001.11:g.102879684G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Ser1759Tyr	COSM4914501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878164G>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Ser1759Pro	rs367853741	missense variant	-	NC_000001.11:g.102878165A>G	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Arg1760Ile	COSM3417793	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878161C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Arg1760Gly	rs1420937590	missense variant	-	NC_000001.11:g.102878162T>C	gnomAD
COL11A1	P12107	p.Lys1761Asn	COSM6057247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878157T>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1762Ser	rs766529064	missense variant	-	NC_000001.11:g.102878156C>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1762Arg	rs766529064	missense variant	-	NC_000001.11:g.102878156C>G	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Glu1764Ter	COSM364893	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102878150C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Glu1764Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102878149T>C	NCI-TCGA
COL11A1	P12107	p.Glu1764Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102878148T>G	NCI-TCGA
COL11A1	P12107	p.Lys1765Asn	COSM3801079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878145C>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Lys1765Arg	rs1416391659	missense variant	-	NC_000001.11:g.102878146T>C	gnomAD
COL11A1	P12107	p.Ile1768Phe	rs1182745575	missense variant	-	NC_000001.11:g.102878138T>A	gnomAD
COL11A1	P12107	p.Ile1768Thr	rs1475376265	missense variant	-	NC_000001.11:g.102878137A>G	gnomAD
COL11A1	P12107	p.Glu1769Lys	rs1240823477	missense variant	-	NC_000001.11:g.102878135C>T	gnomAD
COL11A1	P12107	p.Asn1771Thr	rs1195447527	missense variant	-	NC_000001.11:g.102878128T>G	TOPMed,gnomAD
COL11A1	P12107	p.Asn1771Ser	rs1195447527	missense variant	-	NC_000001.11:g.102878128T>C	TOPMed,gnomAD
COL11A1	P12107	p.Pro1773Thr	rs750652823	missense variant	-	NC_000001.11:g.102878123G>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1773Ser	rs750652823	missense variant	-	NC_000001.11:g.102878123G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Lys1774Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102878118T>G	NCI-TCGA
COL11A1	P12107	p.Ile1775Thr	rs1268535546	missense variant	-	NC_000001.11:g.102878116A>G	gnomAD
COL11A1	P12107	p.Gln1777His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102878109T>A	NCI-TCGA
COL11A1	P12107	p.Gln1777Glu	rs762806617	missense variant	-	NC_000001.11:g.102878111G>C	ExAC,gnomAD
COL11A1	P12107	p.Val1778Leu	COSM4673475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878108C>A	NCI-TCGA Cosmic
COL11A1	P12107	p.Val1778Ile	rs991011471	missense variant	-	NC_000001.11:g.102878108C>T	TOPMed
COL11A1	P12107	p.Pro1779Leu	rs1291771601	missense variant	-	NC_000001.11:g.102878104G>A	gnomAD
COL11A1	P12107	p.Asp1782Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102878096C>A	NCI-TCGA
COL11A1	P12107	p.Asp1782His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102878096C>G	NCI-TCGA
COL11A1	P12107	p.Asp1782Val	rs1228637510	missense variant	-	NC_000001.11:g.102878095T>A	gnomAD
COL11A1	P12107	p.Val1783Ile	rs775083694	missense variant	-	NC_000001.11:g.102878093C>T	ExAC
COL11A1	P12107	p.Met1784Thr	rs1275054845	missense variant	-	NC_000001.11:g.102878089A>G	TOPMed,gnomAD
COL11A1	P12107	p.Asn1786Ser	rs1268319757	missense variant	-	NC_000001.11:g.102878083T>C	gnomAD
COL11A1	P12107	p.Asp1787Ala	COSM4823076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878080T>G	NCI-TCGA Cosmic
COL11A1	P12107	p.Asp1787Asn	rs144510951	missense variant	-	NC_000001.11:g.102878081C>T	ESP,ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Phe1788Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102878078A>G	NCI-TCGA
COL11A1	P12107	p.Phe1788Val	rs571497194	missense variant	-	NC_000001.11:g.102878078A>C	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Phe1788Ser	rs1450665292	missense variant	-	NC_000001.11:g.102878077A>G	TOPMed
COL11A1	P12107	p.Gly1789Ser	rs1302207968	missense variant	-	NC_000001.11:g.102878075C>T	gnomAD
COL11A1	P12107	p.Gly1789Cys	rs1302207968	missense variant	-	NC_000001.11:g.102878075C>A	gnomAD
COL11A1	P12107	p.Gln1791Arg	rs1351190778	missense variant	-	NC_000001.11:g.102878068T>C	gnomAD
COL11A1	P12107	p.Gln1791His	rs1165964060	missense variant	-	NC_000001.11:g.102878067C>G	gnomAD
COL11A1	P12107	p.Gln1793Glu	rs1409700354	missense variant	-	NC_000001.11:g.102878063G>C	gnomAD
COL11A1	P12107	p.Gly1796Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.102878053C>T	NCI-TCGA
COL11A1	P12107	p.Gly1796Arg	rs925433052	missense variant	-	NC_000001.11:g.102878054C>T	TOPMed,gnomAD
COL11A1	P12107	p.Phe1797Ile	COSM893084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878051A>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Phe1797Ser	rs1478223213	missense variant	-	NC_000001.11:g.102878050A>G	gnomAD
COL11A1	P12107	p.Glu1798Lys	COSM674676	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878048C>T	NCI-TCGA Cosmic
COL11A1	P12107	p.Gly1800Ser	rs958368134	missense variant	-	NC_000001.11:g.102878042C>T	gnomAD
COL11A1	P12107	p.Gly1800Cys	rs958368134	missense variant	-	NC_000001.11:g.102878042C>A	gnomAD
COL11A1	P12107	p.Pro1801Ala	rs772836164	missense variant	-	NC_000001.11:g.102878039G>C	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1801Ser	rs772836164	missense variant	-	NC_000001.11:g.102878039G>A	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Pro1801Leu	rs1247463879	missense variant	-	NC_000001.11:g.102878038G>A	gnomAD
COL11A1	P12107	p.Phe1804Leu	rs747838552	missense variant	-	NC_000001.11:g.102878028A>T	ExAC,gnomAD
COL11A1	P12107	p.Phe1804Leu	rs546905537	missense variant	-	NC_000001.11:g.102878030A>G	1000Genomes,ExAC,gnomAD
COL11A1	P12107	p.Leu1805His	rs779088327	missense variant	-	NC_000001.11:g.102878026A>T	ExAC,TOPMed,gnomAD
COL11A1	P12107	p.Gly1806Cys	rs769098402	missense variant	-	NC_000001.11:g.102878024C>A	ExAC,gnomAD
COL11A1	P12107	p.Gly1806Ser	rs769098402	missense variant	-	NC_000001.11:g.102878024C>T	ExAC,gnomAD
COL11A1	P12107	p.Ter1807TyrGluUnkThrTerUnk	COSM3728749	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102878019T>G	NCI-TCGA Cosmic
BMP2	P12643	p.Met1Val	RCV000579047	missense variant	-	NC_000020.11:g.6770127A>G	ClinVar
BMP2	P12643	p.Val2Ala	rs1332619528	missense variant	-	NC_000020.11:g.6770131T>C	gnomAD
BMP2	P12643	p.Gly4Arg	rs867523846	missense variant	-	NC_000020.11:g.6770136G>A	gnomAD
BMP2	P12643	p.Thr5Ser	rs527356831	missense variant	-	NC_000020.11:g.6770140C>G	1000Genomes,ExAC,gnomAD
BMP2	P12643	p.Arg6His	rs974052081	missense variant	-	NC_000020.11:g.6770143G>A	TOPMed,gnomAD
BMP2	P12643	p.Arg6Pro	rs974052081	missense variant	-	NC_000020.11:g.6770143G>C	TOPMed,gnomAD
BMP2	P12643	p.Arg6Cys	rs961599421	missense variant	-	NC_000020.11:g.6770142C>T	TOPMed,gnomAD
BMP2	P12643	p.Leu8Phe	rs1376740838	missense variant	-	NC_000020.11:g.6770148C>T	TOPMed
BMP2	P12643	p.Ala10Gly	rs949067053	missense variant	-	NC_000020.11:g.6770155C>G	gnomAD
BMP2	P12643	p.Leu11Trp	rs769492265	missense variant	-	NC_000020.11:g.6770158T>G	ExAC,gnomAD
BMP2	P12643	p.Pro14Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6770166C>T	NCI-TCGA
BMP2	P12643	p.Gln15Ter	rs1197846053	stop gained	-	NC_000020.11:g.6770169C>T	gnomAD
BMP2	P12643	p.Gln15Ter	RCV000760569	nonsense	-	NC_000020.11:g.6770169C>T	ClinVar
BMP2	P12643	p.Gln15His	rs1442853902	missense variant	-	NC_000020.11:g.6770171G>C	TOPMed
BMP2	P12643	p.Val16Ile	rs774838556	missense variant	-	NC_000020.11:g.6770172G>A	ExAC,gnomAD
BMP2	P12643	p.Leu17Phe	rs1472949182	missense variant	-	NC_000020.11:g.6770175C>T	gnomAD
BMP2	P12643	p.Gly19Ala	rs1362135709	missense variant	-	NC_000020.11:g.6770182G>C	gnomAD
BMP2	P12643	p.Gly20Ser	rs977818261	missense variant	-	NC_000020.11:g.6770184G>A	TOPMed,gnomAD
BMP2	P12643	p.Ala21Thr	rs1187695459	missense variant	-	NC_000020.11:g.6770187G>A	TOPMed,gnomAD
BMP2	P12643	p.Gly23Ala	rs1422558559	missense variant	-	NC_000020.11:g.6770194G>C	gnomAD
BMP2	P12643	p.Val25Ile	rs763897233	missense variant	-	NC_000020.11:g.6770199G>A	ExAC,gnomAD
BMP2	P12643	p.Val25Asp	rs1304151218	missense variant	-	NC_000020.11:g.6770200T>A	gnomAD
BMP2	P12643	p.Pro26Arg	rs774359995	missense variant	-	NC_000020.11:g.6770203C>G	ExAC,gnomAD
BMP2	P12643	p.Glu27Ter	RCV000584741	nonsense	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES (SSFSC)	NC_000020.11:g.6770205G>T	ClinVar
BMP2	P12643	p.Glu27Ter	rs1555785715	stop gained	-	NC_000020.11:g.6770205G>T	-
BMP2	P12643	p.Glu27_Arg396del	VAR_080742	inframe_deletion	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (SSFSC) [MIM:617877]	-	UniProt
BMP2	P12643	p.Gly29Ser	rs1266876327	missense variant	-	NC_000020.11:g.6770211G>A	gnomAD
BMP2	P12643	p.Arg30Cys	rs549080609	missense variant	-	NC_000020.11:g.6770214C>T	1000Genomes
BMP2	P12643	p.Arg30His	rs1179247089	missense variant	-	NC_000020.11:g.6770215G>A	TOPMed
BMP2	P12643	p.Arg31Gly	rs796654883	missense variant	-	NC_000020.11:g.6770217A>G	gnomAD
BMP2	P12643	p.Phe33Leu	rs750303403	missense variant	-	NC_000020.11:g.6770225C>A	ExAC,gnomAD
BMP2	P12643	p.Ala34Val	rs1251797584	missense variant	-	NC_000020.11:g.6770227C>T	NCI-TCGA Cosmic
BMP2	P12643	p.Ala34Pro	rs936595058	missense variant	-	NC_000020.11:g.6770226G>C	gnomAD
BMP2	P12643	p.Ala34Val	rs1251797584	missense variant	-	NC_000020.11:g.6770227C>T	TOPMed
BMP2	P12643	p.Ala35Val	rs755231068	missense variant	-	NC_000020.11:g.6770230C>T	ExAC,gnomAD
BMP2	P12643	p.Ala36Val	rs1418608910	missense variant	-	NC_000020.11:g.6770233C>T	NCI-TCGA
BMP2	P12643	p.Ala36Ser	rs752683518	missense variant	-	NC_000020.11:g.6770232G>T	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Ala36Val	rs1418608910	missense variant	-	NC_000020.11:g.6770233C>T	TOPMed,gnomAD
BMP2	P12643	p.Ala36Ser	rs752683518	missense variant	-	NC_000020.11:g.6770232G>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser37Ala	rs2273073	missense variant	-	NC_000020.11:g.6770235T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser37Ala	rs2273073	missense variant	-	NC_000020.11:g.6770235T>G	UniProt,dbSNP
BMP2	P12643	p.Ser37Ala	VAR_020061	missense variant	-	NC_000020.11:g.6770235T>G	UniProt
BMP2	P12643	p.Ser37Pro	rs2273073	missense variant	-	NC_000020.11:g.6770235T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser37Ala	RCV000175687	missense variant	-	NC_000020.11:g.6770235T>G	ClinVar
BMP2	P12643	p.Ser37Leu	COSM1029276	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6770236C>T	NCI-TCGA Cosmic
BMP2	P12643	p.Ser38Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6770239C>G	NCI-TCGA
BMP2	P12643	p.Ser38Leu	rs1442529588	missense variant	-	NC_000020.11:g.6770239C>T	TOPMed,gnomAD
BMP2	P12643	p.Arg40Gly	rs913432818	missense variant	-	NC_000020.11:g.6770244C>G	TOPMed,gnomAD
BMP2	P12643	p.Arg40Leu	rs1431488935	missense variant	-	NC_000020.11:g.6770245G>T	gnomAD
BMP2	P12643	p.Arg40His	rs1431488935	missense variant	-	NC_000020.11:g.6770245G>A	gnomAD
BMP2	P12643	p.Arg40Cys	rs913432818	missense variant	-	NC_000020.11:g.6770244C>T	TOPMed,gnomAD
BMP2	P12643	p.Pro41ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.6770224_6770225insCGCGGCGGCGTCGTCGGGCCGC	NCI-TCGA
BMP2	P12643	p.Ser42Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6770250T>G	NCI-TCGA
BMP2	P12643	p.Ser43Ala	rs1043311715	missense variant	-	NC_000020.11:g.6770253T>G	TOPMed
BMP2	P12643	p.Gln44Glu	rs747516210	missense variant	-	NC_000020.11:g.6770256C>G	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Gln44His	rs1294143260	missense variant	-	NC_000020.11:g.6770258G>T	TOPMed
BMP2	P12643	p.Gln44His	rs1294143260	missense variant	-	NC_000020.11:g.6770258G>T	NCI-TCGA
BMP2	P12643	p.Pro45Thr	rs757825179	missense variant	-	NC_000020.11:g.6770259C>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser46Thr	rs746277910	missense variant	-	NC_000020.11:g.6770262T>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Asp47Glu	rs769299110	missense variant	-	NC_000020.11:g.6770267C>A	ExAC,gnomAD
BMP2	P12643	p.Asp47Glu	rs769299110	missense variant	-	NC_000020.11:g.6770267C>G	ExAC,gnomAD
BMP2	P12643	p.Glu48Lys	rs1343341933	missense variant	-	NC_000020.11:g.6770268G>A	TOPMed,gnomAD
BMP2	P12643	p.Glu48Asp	rs1207867223	missense variant	-	NC_000020.11:g.6770270G>C	gnomAD
BMP2	P12643	p.Ser51Gly	rs748698168	missense variant	-	NC_000020.11:g.6770277A>G	ExAC,gnomAD
BMP2	P12643	p.Glu52Val	rs1180684823	missense variant	-	NC_000020.11:g.6770281A>T	TOPMed
BMP2	P12643	p.Phe53Leu	rs1201164661	missense variant	-	NC_000020.11:g.6770285C>G	gnomAD
BMP2	P12643	p.Leu55Phe	rs1272009844	missense variant	-	NC_000020.11:g.6770291G>T	TOPMed,gnomAD
BMP2	P12643	p.Arg56Trp	rs1258528022	missense variant	-	NC_000020.11:g.6770292C>T	NCI-TCGA
BMP2	P12643	p.Arg56Gln	rs890872727	missense variant	-	NC_000020.11:g.6770293G>A	TOPMed,gnomAD
BMP2	P12643	p.Arg56Trp	rs1258528022	missense variant	-	NC_000020.11:g.6770292C>T	gnomAD
BMP2	P12643	p.Leu58Val	rs773801167	missense variant	-	NC_000020.11:g.6770298C>G	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Leu58Phe	rs773801167	missense variant	-	NC_000020.11:g.6770298C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser59Arg	rs1008638475	missense variant	-	NC_000020.11:g.6770303C>A	TOPMed,gnomAD
BMP2	P12643	p.Ser59Gly	rs147880089	missense variant	-	NC_000020.11:g.6770301A>G	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Met60Leu	rs773113395	missense variant	-	NC_000020.11:g.6770304A>C	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Met60Ile	rs752982363	missense variant	-	NC_000020.11:g.6770306G>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Met60Thr	rs557734542	missense variant	-	NC_000020.11:g.6770305T>C	1000Genomes,ExAC,gnomAD
BMP2	P12643	p.Met60Val	rs773113395	missense variant	-	NC_000020.11:g.6770304A>G	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Met60Ile	rs752982363	missense variant	-	NC_000020.11:g.6770306G>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Met60Leu	RCV000754562	missense variant	-	NC_000020.11:g.6770304A>C	ClinVar
BMP2	P12643	p.Gly62Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6770310G>A	NCI-TCGA
BMP2	P12643	p.Gln65Leu	rs762870450	missense variant	-	NC_000020.11:g.6770320A>T	ExAC,gnomAD
BMP2	P12643	p.Pro67Ser	rs757737368	missense variant	-	NC_000020.11:g.6770325C>T	ExAC,gnomAD
BMP2	P12643	p.Pro67Arg	RCV000733134	missense variant	-	NC_000020.11:g.6770326C>G	ClinVar
BMP2	P12643	p.Thr68Ile	rs995735344	missense variant	-	NC_000020.11:g.6770329C>T	TOPMed,gnomAD
BMP2	P12643	p.Pro69Ala	rs781692600	missense variant	-	NC_000020.11:g.6770331C>G	ExAC,gnomAD
BMP2	P12643	p.Pro69Ser	rs781692600	missense variant	-	NC_000020.11:g.6770331C>T	ExAC,gnomAD
BMP2	P12643	p.Ala73Thr	rs779506433	missense variant	-	NC_000020.11:g.6770343G>A	ExAC,gnomAD
BMP2	P12643	p.Ala73Val	rs1234611291	missense variant	-	NC_000020.11:g.6770344C>T	gnomAD
BMP2	P12643	p.Pro76Ser	rs1460054847	missense variant	-	NC_000020.11:g.6770352C>T	TOPMed,gnomAD
BMP2	P12643	p.Pro76Thr	COSM3693679	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6770352C>A	NCI-TCGA Cosmic
BMP2	P12643	p.Pro77Ser	rs36105541	missense variant	-	NC_000020.11:g.6770355C>T	TOPMed
BMP2	P12643	p.Pro77Ser	rs36105541	missense variant	-	NC_000020.11:g.6770355C>T	UniProt,dbSNP
BMP2	P12643	p.Pro77Ser	VAR_052568	missense variant	-	NC_000020.11:g.6770355C>T	UniProt
BMP2	P12643	p.Pro77Leu	rs151071707	missense variant	-	NC_000020.11:g.6770356C>T	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Pro77Ala	rs36105541	missense variant	-	NC_000020.11:g.6770355C>G	TOPMed
BMP2	P12643	p.Pro77Arg	rs151071707	missense variant	-	NC_000020.11:g.6770356C>G	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Tyr78LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.6770351_6770352insC	NCI-TCGA
BMP2	P12643	p.Tyr78ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.6770352C>-	NCI-TCGA
BMP2	P12643	p.Met79Ile	rs778541895	missense variant	-	NC_000020.11:g.6770363G>A	ExAC,gnomAD
BMP2	P12643	p.Tyr83Cys	rs1175971832	missense variant	-	NC_000020.11:g.6770374A>G	TOPMed
BMP2	P12643	p.Tyr83Cys	rs1175971832	missense variant	-	NC_000020.11:g.6770374A>G	NCI-TCGA
BMP2	P12643	p.Arg84His	rs959542332	missense variant	-	NC_000020.11:g.6770377G>A	NCI-TCGA Cosmic
BMP2	P12643	p.Arg84His	rs959542332	missense variant	-	NC_000020.11:g.6770377G>A	-
BMP2	P12643	p.Arg85Gly	rs369386883	missense variant	-	NC_000020.11:g.6770379A>G	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser87Leu	rs760484979	missense variant	-	NC_000020.11:g.6770386C>T	ExAC,gnomAD
BMP2	P12643	p.Gly88Asp	rs776361118	missense variant	-	NC_000020.11:g.6770389G>A	ExAC,gnomAD
BMP2	P12643	p.Gln89Glu	rs1464127693	missense variant	-	NC_000020.11:g.6770391C>G	TOPMed
BMP2	P12643	p.Pro90Thr	rs1372716317	missense variant	-	NC_000020.11:g.6770394C>A	TOPMed,gnomAD
BMP2	P12643	p.Gly91Cys	rs373345005	missense variant	-	NC_000020.11:g.6770397G>T	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser92Leu	RCV000384219	missense variant	-	NC_000020.11:g.6770401C>T	ClinVar
BMP2	P12643	p.Ser92Leu	rs886043711	missense variant	-	NC_000020.11:g.6770401C>T	TOPMed,gnomAD
BMP2	P12643	p.Ala94Thr	rs779964077	missense variant	-	NC_000020.11:g.6770406G>A	TOPMed
BMP2	P12643	p.Ala94Ser	rs779964077	missense variant	-	NC_000020.11:g.6770406G>T	TOPMed
BMP2	P12643	p.Ala94Val	rs767964852	missense variant	-	NC_000020.11:g.6770407C>T	ExAC
BMP2	P12643	p.Pro95Ala	rs375798188	missense variant	-	NC_000020.11:g.6770409C>G	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Asp96Ala	rs1387909710	missense variant	-	NC_000020.11:g.6770413A>C	gnomAD
BMP2	P12643	p.His97Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6770415C>G	NCI-TCGA
BMP2	P12643	p.His97Gln	rs1321547063	missense variant	-	NC_000020.11:g.6770417C>A	gnomAD
BMP2	P12643	p.His97Arg	rs1285712947	missense variant	-	NC_000020.11:g.6770416A>G	gnomAD
BMP2	P12643	p.Arg98Trp	rs756645581	missense variant	-	NC_000020.11:g.6770418C>T	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Arg98Trp	rs756645581	missense variant	-	NC_000020.11:g.6770418C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Leu99Phe	rs1269019706	missense variant	-	NC_000020.11:g.6770423G>T	gnomAD
BMP2	P12643	p.Glu100Gly	rs1318885556	missense variant	-	NC_000020.11:g.6770425A>G	gnomAD
BMP2	P12643	p.Arg101Lys	rs780452000	missense variant	-	NC_000020.11:g.6770428G>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg101Gly	rs1213898222	missense variant	-	NC_000020.11:g.6770427A>G	gnomAD
BMP2	P12643	p.Ala102Thr	rs754203178	missense variant	-	NC_000020.11:g.6770430G>A	ExAC,gnomAD
BMP2	P12643	p.Ala103Thr	rs754625577	missense variant	-	NC_000020.11:g.6770433G>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser104Asn	rs947607982	missense variant	-	NC_000020.11:g.6770437G>A	TOPMed
BMP2	P12643	p.Arg105Gln	rs1464939104	missense variant	-	NC_000020.11:g.6770440G>A	TOPMed
BMP2	P12643	p.Arg105Gly	rs1182187646	missense variant	-	NC_000020.11:g.6770439C>G	gnomAD
BMP2	P12643	p.Ala106Thr	rs2273074	missense variant	-	NC_000020.11:g.6770442G>A	UniProt,dbSNP
BMP2	P12643	p.Ala106Thr	VAR_020062	missense variant	-	NC_000020.11:g.6770442G>A	UniProt
BMP2	P12643	p.Ala106Thr	rs2273074	missense variant	-	NC_000020.11:g.6770442G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Asn107Asp	rs978953150	missense variant	-	NC_000020.11:g.6770445A>G	TOPMed
BMP2	P12643	p.Thr108Ile	RCV000368033	missense variant	-	NC_000020.11:g.6770449C>T	ClinVar
BMP2	P12643	p.Thr108Ile	rs374592377	missense variant	-	NC_000020.11:g.6770449C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Val109Ala	rs771718188	missense variant	-	NC_000020.11:g.6770452T>C	ExAC,gnomAD
BMP2	P12643	p.Val109Met	rs1345011787	missense variant	-	NC_000020.11:g.6770451G>A	gnomAD
BMP2	P12643	p.Val109Met	rs1345011787	missense variant	-	NC_000020.11:g.6770451G>A	NCI-TCGA
BMP2	P12643	p.Arg110His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6770455G>A	NCI-TCGA
BMP2	P12643	p.His113Tyr	rs746966399	missense variant	-	NC_000020.11:g.6770463C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.His114Pro	rs368974118	missense variant	-	NC_000020.11:g.6770467A>C	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Glu115Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6770469G>C	NCI-TCGA
BMP2	P12643	p.Glu116Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.6770472G>T	NCI-TCGA
BMP2	P12643	p.Glu119Val	COSM3405296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778254A>T	NCI-TCGA Cosmic
BMP2	P12643	p.Glu120Asp	rs1462426583	missense variant	-	NC_000020.11:g.6778258A>T	TOPMed,gnomAD
BMP2	P12643	p.Pro122Leu	rs757190562	missense variant	-	NC_000020.11:g.6778263C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Glu123Lys	rs1383826535	missense variant	-	NC_000020.11:g.6778265G>A	gnomAD
BMP2	P12643	p.Thr124Ala	rs201118225	missense variant	-	NC_000020.11:g.6778268A>G	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Thr124Met	rs150153389	missense variant	-	NC_000020.11:g.6778269C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser125Asn	rs138635436	missense variant	-	NC_000020.11:g.6778272G>A	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Lys127Glu	rs1328351508	missense variant	-	NC_000020.11:g.6778277A>G	TOPMed,gnomAD
BMP2	P12643	p.Thr128Ala	rs748356558	missense variant	-	NC_000020.11:g.6778280A>G	ExAC,gnomAD
BMP2	P12643	p.Arg130Trp	rs772329794	missense variant	-	NC_000020.11:g.6778286C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg130Gln	rs201927971	missense variant	-	NC_000020.11:g.6778287G>A	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Arg130Gln	rs201927971	missense variant	-	NC_000020.11:g.6778287G>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg130Gly	rs772329794	missense variant	-	NC_000020.11:g.6778286C>G	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg130Leu	COSM5643148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778287G>T	NCI-TCGA Cosmic
BMP2	P12643	p.Arg131Ile	rs775995068	missense variant	-	NC_000020.11:g.6778290G>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg131Ser	rs140417301	missense variant	-	NC_000020.11:g.6778291A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg131Gly	rs1206260486	missense variant	-	NC_000020.11:g.6778289A>G	TOPMed
BMP2	P12643	p.Arg131Ile	rs775995068	missense variant	-	NC_000020.11:g.6778290G>T	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Asn135Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778303T>G	NCI-TCGA
BMP2	P12643	p.Ser137Asn	rs1213913138	missense variant	-	NC_000020.11:g.6778308G>A	gnomAD
BMP2	P12643	p.Ser137Gly	rs759875304	missense variant	-	NC_000020.11:g.6778307A>G	ExAC,gnomAD
BMP2	P12643	p.Ser137Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778308G>C	NCI-TCGA
BMP2	P12643	p.Ser138Ala	rs765688577	missense variant	-	NC_000020.11:g.6778310T>G	ExAC,gnomAD
BMP2	P12643	p.Ser138Tyr	rs544525819	missense variant	-	NC_000020.11:g.6778311C>A	1000Genomes,ExAC,gnomAD
BMP2	P12643	p.Ser138Tyr	rs544525819	missense variant	-	NC_000020.11:g.6778311C>A	NCI-TCGA
BMP2	P12643	p.Ile139Val	rs758105707	missense variant	-	NC_000020.11:g.6778313A>G	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Pro140Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778316C>T	NCI-TCGA
BMP2	P12643	p.Thr141ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.6778315C>-	NCI-TCGA
BMP2	P12643	p.Thr141Met	rs763882274	missense variant	-	NC_000020.11:g.6778320C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Thr141HisPheSerTerUnkUnk	COSM1413274	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.6778314_6778315insC	NCI-TCGA Cosmic
BMP2	P12643	p.Glu142Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778324G>T	NCI-TCGA
BMP2	P12643	p.Phe144Ser	rs756741663	missense variant	-	NC_000020.11:g.6778329T>C	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Thr146Ile	rs868184167	missense variant	-	NC_000020.11:g.6778335C>T	TOPMed
BMP2	P12643	p.Thr146Asn	rs868184167	missense variant	-	NC_000020.11:g.6778335C>A	TOPMed
BMP2	P12643	p.Ser147Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778338C>T	NCI-TCGA
BMP2	P12643	p.Gln151His	rs1201322291	missense variant	-	NC_000020.11:g.6778351G>C	TOPMed,gnomAD
BMP2	P12643	p.Gln151Ter	COSM4902027	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.6778349C>T	NCI-TCGA Cosmic
BMP2	P12643	p.Phe153Ser	rs1167821863	missense variant	-	NC_000020.11:g.6778356T>C	gnomAD
BMP2	P12643	p.Arg154Ter	rs1057523275	stop gained	-	NC_000020.11:g.6778358C>T	-
BMP2	P12643	p.Arg154Ter	RCV000755726	nonsense	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES (SSFSC)	NC_000020.11:g.6778358C>T	ClinVar
BMP2	P12643	p.Arg154Gln	rs111675841	missense variant	-	NC_000020.11:g.6778359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg154_Arg396del	VAR_080743	inframe_deletion	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (SSFSC) [MIM:617877]	-	UniProt
BMP2	P12643	p.Glu155Ter	COSM1029280	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.6778361G>T	NCI-TCGA Cosmic
BMP2	P12643	p.Gln156Glu	rs200735108	missense variant	-	NC_000020.11:g.6778364C>G	1000Genomes,TOPMed,gnomAD
BMP2	P12643	p.Asp159Ala	rs779801820	missense variant	-	NC_000020.11:g.6778374A>C	ExAC,gnomAD
BMP2	P12643	p.Ala160Val	rs1435548167	missense variant	-	NC_000020.11:g.6778377C>T	gnomAD
BMP2	P12643	p.Ala160Asp	rs1435548167	missense variant	-	NC_000020.11:g.6778377C>A	gnomAD
BMP2	P12643	p.Leu161Ser	rs34183594	missense variant	-	NC_000020.11:g.6778380T>C	UniProt,dbSNP
BMP2	P12643	p.Leu161Ser	VAR_052569	missense variant	-	NC_000020.11:g.6778380T>C	UniProt
BMP2	P12643	p.Leu161Ser	rs34183594	missense variant	-	NC_000020.11:g.6778380T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Asn164Asp	rs953712707	missense variant	-	NC_000020.11:g.6778388A>G	TOPMed
BMP2	P12643	p.Asn164Ser	rs773326826	missense variant	-	NC_000020.11:g.6778389A>G	ExAC,gnomAD
BMP2	P12643	p.Ser165Gly	rs1188623371	missense variant	-	NC_000020.11:g.6778391A>G	TOPMed
BMP2	P12643	p.Ser165Gly	rs1188623371	missense variant	-	NC_000020.11:g.6778391A>G	NCI-TCGA
BMP2	P12643	p.Ser166Asn	COSM1029281	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778395G>A	NCI-TCGA Cosmic
BMP2	P12643	p.Phe167Leu	COSM6094030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778399C>G	NCI-TCGA Cosmic
BMP2	P12643	p.His168Asn	rs373168490	missense variant	-	NC_000020.11:g.6778400C>A	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.His169Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778403C>T	NCI-TCGA
BMP2	P12643	p.Arg170Gln	rs776834114	missense variant	-	NC_000020.11:g.6778407G>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg170Gln	rs776834114	missense variant	-	NC_000020.11:g.6778407G>A	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Asn172Ser	rs1262129418	missense variant	-	NC_000020.11:g.6778413A>G	gnomAD
BMP2	P12643	p.Ile173Val	rs1329513102	missense variant	-	NC_000020.11:g.6778415A>G	gnomAD
BMP2	P12643	p.Ile173Ser	rs1206516663	missense variant	-	NC_000020.11:g.6778416T>G	gnomAD
BMP2	P12643	p.Ile176Met	rs1286844558	missense variant	-	NC_000020.11:g.6778426C>G	gnomAD
BMP2	P12643	p.Ile177Leu	rs760111045	missense variant	-	NC_000020.11:g.6778427A>C	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Pro179Leu	rs527355069	missense variant	-	NC_000020.11:g.6778434C>T	1000Genomes,ExAC,gnomAD
BMP2	P12643	p.Ala180Val	rs775969696	missense variant	-	NC_000020.11:g.6778437C>T	ExAC,gnomAD
BMP2	P12643	p.Thr181Ile	rs763444779	missense variant	-	NC_000020.11:g.6778440C>T	ExAC,gnomAD
BMP2	P12643	p.Ser184Trp	rs549080568	missense variant	-	NC_000020.11:g.6778449C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ser184Leu	rs549080568	missense variant	-	NC_000020.11:g.6778449C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Lys185Arg	rs749999118	missense variant	-	NC_000020.11:g.6778452A>G	ExAC,gnomAD
BMP2	P12643	p.Phe186Leu	rs756013012	missense variant	-	NC_000020.11:g.6778454T>C	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Pro187Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778458C>T	NCI-TCGA
BMP2	P12643	p.Val188Met	rs551304949	missense variant	-	NC_000020.11:g.6778460G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Thr189Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778463A>C	NCI-TCGA
BMP2	P12643	p.Arg190Ser	rs235768	missense variant	-	NC_000020.11:g.6778468A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg190Lys	rs984032782	missense variant	-	NC_000020.11:g.6778467G>A	TOPMed
BMP2	P12643	p.Arg190Ser	RCV000177127	missense variant	-	NC_000020.11:g.6778468A>T	ClinVar
BMP2	P12643	p.Val197Leu	rs180897623	missense variant	-	NC_000020.11:g.6778487G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Val197Met	rs180897623	missense variant	-	NC_000020.11:g.6778487G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Gln199Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.6778493C>T	NCI-TCGA
BMP2	P12643	p.Asn200Lys	rs1349011153	missense variant	-	NC_000020.11:g.6778498T>A	gnomAD
BMP2	P12643	p.Ser202Gly	rs148232300	missense variant	-	NC_000020.11:g.6778502A>G	ESP,ExAC,gnomAD
BMP2	P12643	p.Arg203Ser	rs776166057	missense variant	-	NC_000020.11:g.6778507G>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg203Lys	rs770387804	missense variant	-	NC_000020.11:g.6778506G>A	ExAC,gnomAD
BMP2	P12643	p.Arg203Met	COSM4911529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778506G>T	NCI-TCGA Cosmic
BMP2	P12643	p.Trp204Arg	rs1325090264	missense variant	-	NC_000020.11:g.6778508T>C	gnomAD
BMP2	P12643	p.Ser206Asn	rs1343299915	missense variant	-	NC_000020.11:g.6778515G>A	TOPMed,gnomAD
BMP2	P12643	p.Asp208Val	rs768908839	missense variant	-	NC_000020.11:g.6778521A>T	ExAC,gnomAD
BMP2	P12643	p.Thr210Ile	rs937303269	missense variant	-	NC_000020.11:g.6778527C>T	TOPMed,gnomAD
BMP2	P12643	p.Pro211Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778529C>A	NCI-TCGA
BMP2	P12643	p.Pro211Arg	rs1410843089	missense variant	-	NC_000020.11:g.6778530C>G	TOPMed
BMP2	P12643	p.Ala212LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.6778527C>-	NCI-TCGA
BMP2	P12643	p.Ala212Thr	rs377749107	missense variant	-	NC_000020.11:g.6778532G>A	ESP,ExAC,gnomAD
BMP2	P12643	p.Ala212Pro	rs377749107	missense variant	-	NC_000020.11:g.6778532G>C	ESP,ExAC,gnomAD
BMP2	P12643	p.Met214Val	rs1422724017	missense variant	-	NC_000020.11:g.6778538A>G	gnomAD
BMP2	P12643	p.Met214Ile	rs755006479	missense variant	-	NC_000020.11:g.6778540G>A	ExAC,gnomAD
BMP2	P12643	p.Arg215Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778541C>T	NCI-TCGA
BMP2	P12643	p.Arg215Gln	rs141178075	missense variant	-	NC_000020.11:g.6778542G>A	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Trp216Cys	rs895863242	missense variant	-	NC_000020.11:g.6778546G>C	TOPMed
BMP2	P12643	p.Ala218Val	rs1326461703	missense variant	-	NC_000020.11:g.6778551C>T	gnomAD
BMP2	P12643	p.Ala218Thr	rs371085275	missense variant	-	NC_000020.11:g.6778550G>A	ESP,ExAC,gnomAD
BMP2	P12643	p.Gly220Val	rs868190033	missense variant	-	NC_000020.11:g.6778557G>T	gnomAD
BMP2	P12643	p.Gly220Glu	rs868190033	missense variant	-	NC_000020.11:g.6778557G>A	gnomAD
BMP2	P12643	p.His221Arg	rs1182413674	missense variant	-	NC_000020.11:g.6778560A>G	TOPMed
BMP2	P12643	p.Ala222Thr	rs140884062	missense variant	-	NC_000020.11:g.6778562G>A	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Ala222Thr	rs140884062	missense variant	-	NC_000020.11:g.6778562G>A	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ala222Gly	rs1291634218	missense variant	-	NC_000020.11:g.6778563C>G	gnomAD
BMP2	P12643	p.Asn223Ser	rs745897492	missense variant	-	NC_000020.11:g.6778566A>G	ExAC,gnomAD
BMP2	P12643	p.His224Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778568C>A	NCI-TCGA
BMP2	P12643	p.Gly225Arg	rs267606060	missense variant	-	NC_000020.11:g.6778571G>A	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Gly225Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778572G>A	NCI-TCGA
BMP2	P12643	p.Gly225Arg	rs267606060	missense variant	-	NC_000020.11:g.6778571G>A	-
BMP2	P12643	p.Val227Leu	rs780643020	missense variant	-	NC_000020.11:g.6778577G>C	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Val227Met	rs780643020	missense variant	-	NC_000020.11:g.6778577G>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Val227Met	rs780643020	missense variant	-	NC_000020.11:g.6778577G>A	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Val228Ala	rs774548159	missense variant	-	NC_000020.11:g.6778581T>C	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Val228Leu	rs769264233	missense variant	-	NC_000020.11:g.6778580G>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Ala231Ser	COSM4100660	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778589G>T	NCI-TCGA Cosmic
BMP2	P12643	p.His232Leu	rs756991680	missense variant	-	NC_000020.11:g.6778593A>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Leu233Val	rs1463073209	missense variant	-	NC_000020.11:g.6778595T>G	gnomAD
BMP2	P12643	p.Glu234Gly	rs1395477404	missense variant	-	NC_000020.11:g.6778599A>G	TOPMed
BMP2	P12643	p.Glu235Asp	rs1296012081	missense variant	-	NC_000020.11:g.6778603G>C	TOPMed,gnomAD
BMP2	P12643	p.Glu235Asp	rs1296012081	missense variant	-	NC_000020.11:g.6778603G>T	TOPMed,gnomAD
BMP2	P12643	p.Gln237Arg	rs143336052	missense variant	-	NC_000020.11:g.6778608A>G	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Gly238Ala	rs1338256000	missense variant	-	NC_000020.11:g.6778611G>C	gnomAD
BMP2	P12643	p.Gly238Ser	rs1443406422	missense variant	-	NC_000020.11:g.6778610G>A	TOPMed
BMP2	P12643	p.Lys241Thr	rs1450842847	missense variant	-	NC_000020.11:g.6778620A>C	gnomAD
BMP2	P12643	p.Lys241Asn	rs1370398615	missense variant	-	NC_000020.11:g.6778621G>C	TOPMed
BMP2	P12643	p.Val244LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.6778628G>-	NCI-TCGA
BMP2	P12643	p.Arg245Lys	rs1312646092	missense variant	-	NC_000020.11:g.6778632G>A	gnomAD
BMP2	P12643	p.His251Asp	rs760108003	missense variant	-	NC_000020.11:g.6778649C>G	ExAC,gnomAD
BMP2	P12643	p.Gln252Ter	COSM3911865	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.6778652C>T	NCI-TCGA Cosmic
BMP2	P12643	p.Asp253Tyr	rs776172632	missense variant	-	NC_000020.11:g.6778655G>T	ExAC,gnomAD
BMP2	P12643	p.His255Gln	rs759365542	missense variant	-	NC_000020.11:g.6778663C>G	ExAC,gnomAD
BMP2	P12643	p.Ser256Gly	rs1204582570	missense variant	-	NC_000020.11:g.6778664A>G	gnomAD
BMP2	P12643	p.Ser256Arg	rs1204582570	missense variant	-	NC_000020.11:g.6778664A>C	gnomAD
BMP2	P12643	p.Trp257Cys	rs375357102	missense variant	-	NC_000020.11:g.6778669G>T	ESP,ExAC,gnomAD
BMP2	P12643	p.Trp257Leu	rs1245145872	missense variant	-	NC_000020.11:g.6778668G>T	gnomAD
BMP2	P12643	p.Ser258Pro	rs1182679355	missense variant	-	NC_000020.11:g.6778670T>C	gnomAD
BMP2	P12643	p.Ile260Lys	rs1167099474	missense variant	-	NC_000020.11:g.6778677T>A	TOPMed
BMP2	P12643	p.Ile260Val	COSM4100661	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778676A>G	NCI-TCGA Cosmic
BMP2	P12643	p.Leu263Ser	rs199628088	missense variant	-	NC_000020.11:g.6778686T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Leu263Met	rs758237738	missense variant	-	NC_000020.11:g.6778685T>A	ExAC,gnomAD
BMP2	P12643	p.Leu263Phe	rs750679612	missense variant	-	NC_000020.11:g.6778687G>T	ExAC,gnomAD
BMP2	P12643	p.Thr266Ile	rs756473236	missense variant	-	NC_000020.11:g.6778695C>T	ExAC,gnomAD
BMP2	P12643	p.Phe267Ser	rs749429499	missense variant	-	NC_000020.11:g.6778698T>C	ExAC,gnomAD
BMP2	P12643	p.His269Arg	rs191265322	missense variant	-	NC_000020.11:g.6778704A>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP2	P12643	p.His269Tyr	rs755398280	missense variant	-	NC_000020.11:g.6778703C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Asp270Gly	rs748402055	missense variant	-	NC_000020.11:g.6778707A>G	ExAC,gnomAD
BMP2	P12643	p.Asp270GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.6778708T>-	NCI-TCGA
BMP2	P12643	p.Gly271Arg	rs772487751	missense variant	-	NC_000020.11:g.6778709G>A	ExAC,gnomAD
BMP2	P12643	p.Leu276Phe	rs1369599288	missense variant	-	NC_000020.11:g.6778724C>T	TOPMed,gnomAD
BMP2	P12643	p.His277Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778727C>A	NCI-TCGA
BMP2	P12643	p.His277Arg	rs368389739	missense variant	-	NC_000020.11:g.6778728A>G	ESP,TOPMed
BMP2	P12643	p.Glu280Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.6778736G>T	NCI-TCGA
BMP2	P12643	p.Arg282His	rs773630680	missense variant	-	NC_000020.11:g.6778743G>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg282Cys	rs904649778	missense variant	-	NC_000020.11:g.6778742C>T	TOPMed
BMP2	P12643	p.Gln283His	rs1224137887	missense variant	-	NC_000020.11:g.6778747A>C	gnomAD
BMP2	P12643	p.Ala284Val	rs746647623	missense variant	-	NC_000020.11:g.6778749C>T	ExAC,gnomAD
BMP2	P12643	p.Lys285Glu	COSM4900011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778751A>G	NCI-TCGA Cosmic
BMP2	P12643	p.Gln288Glu	rs1459743085	missense variant	-	NC_000020.11:g.6778760C>G	gnomAD
BMP2	P12643	p.Arg289Trp	rs770615288	missense variant	-	NC_000020.11:g.6778763C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg289Gln	rs370948498	missense variant	-	NC_000020.11:g.6778764G>A	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg289Gln	rs370948498	missense variant	-	NC_000020.11:g.6778764G>A	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Arg291His	rs765038230	missense variant	-	NC_000020.11:g.6778770G>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg291Cys	rs759121274	missense variant	-	NC_000020.11:g.6778769C>T	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg291Cys	rs759121274	missense variant	-	NC_000020.11:g.6778769C>T	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Lys293Arg	rs775514883	missense variant	-	NC_000020.11:g.6778776A>G	ExAC,gnomAD
BMP2	P12643	p.Lys293Gln	rs1260895456	missense variant	-	NC_000020.11:g.6778775A>C	gnomAD
BMP2	P12643	p.Lys293Thr	COSM3549304	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778776A>C	NCI-TCGA Cosmic
BMP2	P12643	p.Lys297Gln	rs763978335	missense variant	-	NC_000020.11:g.6778787A>C	ExAC
BMP2	P12643	p.Lys297Asn	COSM3841578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778789G>C	NCI-TCGA Cosmic
BMP2	P12643	p.Arg298Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778791G>T	NCI-TCGA
BMP2	P12643	p.Arg298Lys	rs756383266	missense variant	-	NC_000020.11:g.6778791G>A	ExAC,gnomAD
BMP2	P12643	p.His299Arg	rs1407101620	missense variant	-	NC_000020.11:g.6778794A>G	TOPMed
BMP2	P12643	p.His299Gln	rs753811841	missense variant	-	NC_000020.11:g.6778795C>A	ExAC,gnomAD
BMP2	P12643	p.Pro300Leu	rs1287645995	missense variant	-	NC_000020.11:g.6778797C>T	gnomAD
BMP2	P12643	p.Pro300Thr	rs1455627279	missense variant	-	NC_000020.11:g.6778796C>A	gnomAD
BMP2	P12643	p.Val303Met	rs779219938	missense variant	-	NC_000020.11:g.6778805G>A	ExAC,gnomAD
BMP2	P12643	p.Asp307Gly	rs1343693799	missense variant	-	NC_000020.11:g.6778818A>G	gnomAD
BMP2	P12643	p.Val308Met	rs758959332	missense variant	-	NC_000020.11:g.6778820G>A	ExAC,TOPMed,gnomAD
BMP2	P12643	p.Val308Met	rs758959332	missense variant	-	NC_000020.11:g.6778820G>A	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Trp313Ter	rs867664596	stop gained	-	NC_000020.11:g.6778836G>A	-
BMP2	P12643	p.Trp313Ter	rs867664596	stop gained	-	NC_000020.11:g.6778836G>A	NCI-TCGA
BMP2	P12643	p.Ala316Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778845C>T	NCI-TCGA
BMP2	P12643	p.Pro317Ser	COSM3549305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778847C>T	NCI-TCGA Cosmic
BMP2	P12643	p.Pro318ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.6778847C>-	NCI-TCGA
BMP2	P12643	p.Pro318Leu	rs1472087975	missense variant	-	NC_000020.11:g.6778851C>T	TOPMed
BMP2	P12643	p.Tyr320Ter	RCV000584732	frameshift	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES (SSFSC)	NC_000020.11:g.6778851dup	ClinVar
BMP2	P12643	p.Tyr320Asp	rs1490510739	missense variant	-	NC_000020.11:g.6778856T>G	gnomAD
BMP2	P12643	p.His321Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778859C>G	NCI-TCGA
BMP2	P12643	p.Ala322Ser	rs1266204708	missense variant	-	NC_000020.11:g.6778862G>T	gnomAD
BMP2	P12643	p.Ala322Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778862G>A	NCI-TCGA
BMP2	P12643	p.Phe323Leu	rs1177449473	missense variant	-	NC_000020.11:g.6778867T>A	gnomAD
BMP2	P12643	p.His326Tyr	rs1421256768	missense variant	-	NC_000020.11:g.6778874C>T	gnomAD
BMP2	P12643	p.Gly327Arg	rs190569855	missense variant	-	NC_000020.11:g.6778877G>A	NCI-TCGA,NCI-TCGA Cosmic
BMP2	P12643	p.Gly327Arg	rs190569855	missense variant	-	NC_000020.11:g.6778877G>A	1000Genomes
BMP2	P12643	p.Cys329Ter	RCV000584742	nonsense	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES (SSFSC)	NC_000020.11:g.6778885C>A	ClinVar
BMP2	P12643	p.Cys329Ter	rs1555786156	stop gained	-	NC_000020.11:g.6778885C>A	-
BMP2	P12643	p.Cys329_Arg396del	VAR_080744	inframe_deletion	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (SSFSC) [MIM:617877]	-	UniProt
BMP2	P12643	p.Pro332Ser	COSM3549306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778892C>T	NCI-TCGA Cosmic
BMP2	P12643	p.Asn338Ser	rs1425902138	missense variant	-	NC_000020.11:g.6778911A>G	gnomAD
BMP2	P12643	p.Thr340Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778916A>G	NCI-TCGA
BMP2	P12643	p.Ala343Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778926C>A	NCI-TCGA
BMP2	P12643	p.Ile344Val	rs145193697	missense variant	-	NC_000020.11:g.6778928A>G	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Val345Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778932T>C	NCI-TCGA
BMP2	P12643	p.Gln346Ter	COSM444260	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.6778934C>T	NCI-TCGA Cosmic
BMP2	P12643	p.Gln346His	COSM3549307	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778936G>C	NCI-TCGA Cosmic
BMP2	P12643	p.Thr347Met	rs148745143	missense variant	-	NC_000020.11:g.6778938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Lys358Arg	rs768764091	missense variant	-	NC_000020.11:g.6778971A>G	ExAC,gnomAD
BMP2	P12643	p.Lys358Asn	rs1216567359	missense variant	-	NC_000020.11:g.6778972G>C	TOPMed
BMP2	P12643	p.Ala359Pro	COSM4100663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6778973G>C	NCI-TCGA Cosmic
BMP2	P12643	p.Cys361Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6778979T>G	NCI-TCGA
BMP2	P12643	p.Cys361Tyr	rs1359852562	missense variant	-	NC_000020.11:g.6778980G>A	gnomAD
BMP2	P12643	p.Val362Ile	rs553834050	missense variant	-	NC_000020.11:g.6778982G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Pro363Leu	rs1289444520	missense variant	-	NC_000020.11:g.6778986C>T	gnomAD
BMP2	P12643	p.Thr364Ile	rs1225746483	missense variant	-	NC_000020.11:g.6778989C>T	TOPMed
BMP2	P12643	p.Glu365Gly	rs766649989	missense variant	-	NC_000020.11:g.6778992A>G	ExAC,gnomAD
BMP2	P12643	p.Glu365Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.6778991G>T	NCI-TCGA
BMP2	P12643	p.Ala368Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.6779001C>T	NCI-TCGA
BMP2	P12643	p.Ile369Val	rs1445570003	missense variant	-	NC_000020.11:g.6779003A>G	gnomAD
BMP2	P12643	p.Glu376Asp	rs200531184	missense variant	-	NC_000020.11:g.6779026G>C	ExAC,gnomAD
BMP2	P12643	p.Glu376Lys	rs1356335204	missense variant	-	NC_000020.11:g.6779024G>A	gnomAD
BMP2	P12643	p.Asn377Ser	rs751876723	missense variant	-	NC_000020.11:g.6779028A>G	ExAC,gnomAD
BMP2	P12643	p.Glu378Lys	COSM3549308	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6779030G>A	NCI-TCGA Cosmic
BMP2	P12643	p.Lys383Arg	rs757635021	missense variant	-	NC_000020.11:g.6779046A>G	ExAC,gnomAD
BMP2	P12643	p.Lys383Asn	COSM259647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.6779047G>T	NCI-TCGA Cosmic
BMP2	P12643	p.Asn384Ser	rs140326695	missense variant	-	NC_000020.11:g.6779049A>G	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Val389Gly	rs1305226244	missense variant	-	NC_000020.11:g.6779064T>G	gnomAD
BMP2	P12643	p.Gly392Ser	rs779593991	missense variant	-	NC_000020.11:g.6779072G>A	ExAC,gnomAD
BMP2	P12643	p.Gly392Cys	rs779593991	missense variant	-	NC_000020.11:g.6779072G>T	ExAC,gnomAD
BMP2	P12643	p.Arg396His	rs151019338	missense variant	-	NC_000020.11:g.6779085G>A	ESP,ExAC,TOPMed,gnomAD
BMP2	P12643	p.Arg396Cys	rs774442750	missense variant	-	NC_000020.11:g.6779084C>T	ExAC,gnomAD
BMP2	P12643	p.Arg396Leu	rs151019338	missense variant	-	NC_000020.11:g.6779085G>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ile2Phe	rs760019960	missense variant	-	NC_000014.9:g.53952219T>A	ExAC,gnomAD
BMP4	P12644	p.Pro3Leu	rs774777993	missense variant	-	NC_000014.9:g.53952215G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Pro3His	COSM4051324	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952215G>T	NCI-TCGA Cosmic
BMP4	P12644	p.Asn5Ser	rs771302149	missense variant	-	NC_000014.9:g.53952209T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg6Gln	rs377379589	missense variant	-	NC_000014.9:g.53952206C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Met7Ile	rs780741859	missense variant	-	NC_000014.9:g.53952202C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Leu8Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53952201G>T	NCI-TCGA
BMP4	P12644	p.Met9Ile	COSM416664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952196C>A	NCI-TCGA Cosmic
BMP4	P12644	p.Met9Thr	rs746551997	missense variant	-	NC_000014.9:g.53952197A>G	ExAC,gnomAD
BMP4	P12644	p.Leu13PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.53952184_53952185insA	NCI-TCGA
BMP4	P12644	p.Cys14Tyr	rs779603940	missense variant	-	NC_000014.9:g.53952182C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln15His	rs1276201527	missense variant	-	NC_000014.9:g.53952178T>G	TOPMed
BMP4	P12644	p.Gln15Glu	rs1236268255	missense variant	-	NC_000014.9:g.53952180G>C	TOPMed
BMP4	P12644	p.Gly20Ser	RCV000681618	missense variant	Tooth agenesis	NC_000014.9:g.53952165C>T	ClinVar
BMP4	P12644	p.Ala21Glu	rs757138929	missense variant	-	NC_000014.9:g.53952161G>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Gly	rs757138929	missense variant	-	NC_000014.9:g.53952161G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Val	rs757138929	missense variant	-	NC_000014.9:g.53952161G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Ser	rs1377054583	missense variant	-	NC_000014.9:g.53952162C>A	TOPMed,gnomAD
BMP4	P12644	p.Ala21Thr	rs1377054583	missense variant	-	NC_000014.9:g.53952162C>T	TOPMed,gnomAD
BMP4	P12644	p.Ser22Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53952157G>T	NCI-TCGA
BMP4	P12644	p.Ser22Asn	COSM4051323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952158C>T	NCI-TCGA Cosmic
BMP4	P12644	p.Ser25Arg	rs756334837	missense variant	-	NC_000014.9:g.53952148A>C	ExAC,gnomAD
BMP4	P12644	p.Ser25Asn	rs1161431139	missense variant	-	NC_000014.9:g.53952149C>T	TOPMed,gnomAD
BMP4	P12644	p.Ile27Met	rs1486737404	missense variant	-	NC_000014.9:g.53952142T>C	TOPMed,gnomAD
BMP4	P12644	p.Ile27Leu	rs1180347739	missense variant	-	NC_000014.9:g.53952144T>G	gnomAD
BMP4	P12644	p.Glu29Asp	rs767626507	missense variant	-	NC_000014.9:g.53952136C>G	ExAC,gnomAD
BMP4	P12644	p.Glu29Gln	rs1258691934	missense variant	-	NC_000014.9:g.53952138C>G	gnomAD
BMP4	P12644	p.Thr30Ala	rs759558138	missense variant	-	NC_000014.9:g.53952135T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr30Met	rs565895316	missense variant	-	NC_000014.9:g.53952134G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly31Glu	rs928764774	missense variant	-	NC_000014.9:g.53952131C>T	TOPMed
BMP4	P12644	p.Lys32Gln	rs1311306185	missense variant	-	NC_000014.9:g.53952129T>G	gnomAD
BMP4	P12644	p.Ala36Thr	rs774938531	missense variant	-	NC_000014.9:g.53952117C>T	ExAC
BMP4	P12644	p.Ala36Ser	rs774938531	missense variant	-	NC_000014.9:g.53952117C>A	ExAC
BMP4	P12644	p.Glu37Asp	rs150187403	missense variant	-	NC_000014.9:g.53952112C>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu37Gly	rs779024090	missense variant	-	NC_000014.9:g.53952113T>C	ExAC,gnomAD
BMP4	P12644	p.Gly40Asp	rs777606324	missense variant	-	NC_000014.9:g.53952104C>T	ExAC,gnomAD
BMP4	P12644	p.Gly40Ser	rs749083527	missense variant	-	NC_000014.9:g.53952105C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.His41Gln	rs756353828	missense variant	-	NC_000014.9:g.53952100G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala42Ser	rs140920120	missense variant	-	NC_000014.9:g.53952099C>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala42Pro	rs140920120	missense variant	-	NC_000014.9:g.53952099C>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly43Glu	rs1476321924	missense variant	-	NC_000014.9:g.53952095C>T	gnomAD
BMP4	P12644	p.Arg46His	rs1418818779	missense variant	-	NC_000014.9:g.53952086C>T	gnomAD
BMP4	P12644	p.His51Gln	rs950786038	missense variant	-	NC_000014.9:g.53952070A>C	gnomAD
BMP4	P12644	p.Leu53Pro	rs1264231997	missense variant	-	NC_000014.9:g.53952065A>G	gnomAD
BMP4	P12644	p.Leu53Phe	rs1250647011	missense variant	-	NC_000014.9:g.53952066G>A	TOPMed
BMP4	P12644	p.Arg55Trp	rs767590018	missense variant	-	NC_000014.9:g.53952060G>A	ExAC,gnomAD
BMP4	P12644	p.Arg55Gln	rs755084602	missense variant	-	NC_000014.9:g.53952059C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg55Leu	rs755084602	missense variant	-	NC_000014.9:g.53952059C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asp56Glu	rs547716844	missense variant	-	NC_000014.9:g.53952055G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Phe57Leu	rs763439953	missense variant	-	NC_000014.9:g.53952052G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu58Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53952051C>T	NCI-TCGA
BMP4	P12644	p.Glu58Gly	rs765639993	missense variant	-	NC_000014.9:g.53952050T>C	ExAC,gnomAD
BMP4	P12644	p.Glu58Gln	rs773516930	missense variant	-	NC_000014.9:g.53952051C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala59Val	rs1297365466	missense variant	-	NC_000014.9:g.53952047G>A	gnomAD
BMP4	P12644	p.Thr60Ser	rs1382742836	missense variant	-	NC_000014.9:g.53952045T>A	gnomAD
BMP4	P12644	p.Gln63His	rs1429432757	missense variant	-	NC_000014.9:g.53952034C>G	TOPMed
BMP4	P12644	p.Met64Val	rs1048864355	missense variant	-	NC_000014.9:g.53952033T>C	TOPMed
BMP4	P12644	p.Phe65Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53952029A>C	NCI-TCGA
BMP4	P12644	p.Gly66Glu	RCV000722884	missense variant	-	NC_000014.9:g.53952026C>T	ClinVar
BMP4	P12644	p.Arg68His	rs1389867082	missense variant	-	NC_000014.9:g.53952020C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg68Cys	COSM4051320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952021G>A	NCI-TCGA Cosmic
BMP4	P12644	p.Arg69Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53952018G>A	NCI-TCGA
BMP4	P12644	p.Arg69His	rs1166450278	missense variant	-	NC_000014.9:g.53952017C>T	TOPMed
BMP4	P12644	p.Arg70His	rs775230487	missense variant	-	NC_000014.9:g.53952014C>T	ExAC,gnomAD
BMP4	P12644	p.Arg70Cys	rs1394669206	missense variant	-	NC_000014.9:g.53952015G>A	TOPMed
BMP4	P12644	p.Arg70Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53952014C>G	NCI-TCGA
BMP4	P12644	p.Pro71Gln	rs771808387	missense variant	-	NC_000014.9:g.53952011G>T	ExAC,gnomAD
BMP4	P12644	p.Pro71Arg	rs771808387	missense variant	-	NC_000014.9:g.53952011G>C	ExAC,gnomAD
BMP4	P12644	p.Gln72Arg	rs771047931	missense variant	-	NC_000014.9:g.53952008T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln72Arg	RCV000355940	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000439978	missense variant	-	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000301329	missense variant	Orofacial cleft	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000393894	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000341050	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Ser74Gly	rs1006741808	missense variant	-	NC_000014.9:g.53952003T>C	TOPMed,gnomAD
BMP4	P12644	p.Ser74Asn	COSM956291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53952002C>T	NCI-TCGA Cosmic
BMP4	P12644	p.Lys75Arg	RCV000400269	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	rs777501416	missense variant	-	NC_000014.9:g.53951999T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys75Arg	RCV000438985	missense variant	-	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000286084	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000344659	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000289710	missense variant	Orofacial cleft	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Ser76Thr	rs1382538211	missense variant	-	NC_000014.9:g.53951996C>G	TOPMed
BMP4	P12644	p.Ser76Arg	rs114957446	missense variant	-	NC_000014.9:g.53951995A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala77Val	rs1469412041	missense variant	-	NC_000014.9:g.53951993G>A	gnomAD
BMP4	P12644	p.Ala77Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53951994C>T	NCI-TCGA
BMP4	P12644	p.Pro80Leu	rs1011657927	missense variant	-	NC_000014.9:g.53951984G>A	-
BMP4	P12644	p.Tyr82His	rs1337000514	missense variant	-	NC_000014.9:g.53951979A>G	TOPMed,gnomAD
BMP4	P12644	p.Leu86Ile	rs377676306	missense variant	-	NC_000014.9:g.53951967G>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Tyr87His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53951964A>G	NCI-TCGA
BMP4	P12644	p.Tyr87Phe	rs751697119	missense variant	-	NC_000014.9:g.53951963T>A	ExAC,gnomAD
BMP4	P12644	p.Arg88Trp	rs1301153846	missense variant	-	NC_000014.9:g.53951961G>A	TOPMed,gnomAD
BMP4	P12644	p.Leu89Phe	rs200488679	missense variant	-	NC_000014.9:g.53951958G>A	1000Genomes
BMP4	P12644	p.Ser91Cys	RCV000019277	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	ClinVar
BMP4	P12644	p.Ser91Cys	rs121912767	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt,dbSNP
BMP4	P12644	p.Ser91Cys	VAR_043531	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt
BMP4	P12644	p.Ser91Cys	rs121912767	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53951951G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu93Gly	rs121912765	missense variant	-	NC_000014.9:g.53951945T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu93Gly	rs121912765	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt,dbSNP
BMP4	P12644	p.Glu93Gly	VAR_043532	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt
BMP4	P12644	p.Glu93Gly	RCV000019275	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951945T>C	ClinVar
BMP4	P12644	p.Glu94Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53951942T>C	NCI-TCGA
BMP4	P12644	p.Glu95Lys	rs1398877232	missense variant	-	NC_000014.9:g.53951940C>T	gnomAD
BMP4	P12644	p.Glu96Lys	rs1168891139	missense variant	-	NC_000014.9:g.53951937C>T	gnomAD
BMP4	P12644	p.Glu97Asp	rs1426072881	missense variant	-	NC_000014.9:g.53951932C>G	TOPMed
BMP4	P12644	p.Gln98Arg	rs1376487986	missense variant	-	NC_000014.9:g.53951930T>C	gnomAD
BMP4	P12644	p.Ile99Phe	rs1417794324	missense variant	-	NC_000014.9:g.53951928T>A	TOPMed
BMP4	P12644	p.Ile99Val	rs1417794324	missense variant	-	NC_000014.9:g.53951928T>C	TOPMed
BMP4	P12644	p.Ser101Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53951921C>A	NCI-TCGA
BMP4	P12644	p.Ser101Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53951922T>G	NCI-TCGA
BMP4	P12644	p.Ser101Arg	rs1196073983	missense variant	-	NC_000014.9:g.53951920G>T	gnomAD
BMP4	P12644	p.Thr102Ala	RCV000290196	missense variant	-	NC_000014.9:g.53951919T>C	ClinVar
BMP4	P12644	p.Thr102Ala	rs202159001	missense variant	-	NC_000014.9:g.53951919T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr102Ile	rs371239780	missense variant	-	NC_000014.9:g.53951918G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly103Ser	rs1177418822	missense variant	-	NC_000014.9:g.53951916C>T	gnomAD
BMP4	P12644	p.Leu104Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53951913G>A	NCI-TCGA
BMP4	P12644	p.Glu105Lys	rs1322581101	missense variant	-	NC_000014.9:g.53951910C>T	gnomAD
BMP4	P12644	p.Glu105Gln	COSM4830112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53951910C>G	NCI-TCGA Cosmic
BMP4	P12644	p.Tyr106His	rs1456141352	missense variant	-	NC_000014.9:g.53951907A>G	gnomAD
BMP4	P12644	p.Tyr106Cys	rs1344050675	missense variant	-	NC_000014.9:g.53951906T>C	gnomAD
BMP4	P12644	p.Glu108Gln	rs1454041222	missense variant	-	NC_000014.9:g.53951901C>G	TOPMed
BMP4	P12644	p.Arg109Leu	rs773235106	missense variant	-	NC_000014.9:g.53951897C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg109His	rs773235106	missense variant	-	NC_000014.9:g.53951897C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg109Pro	rs773235106	missense variant	-	NC_000014.9:g.53951897C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg109Cys	rs1288064472	missense variant	-	NC_000014.9:g.53951898G>A	TOPMed
BMP4	P12644	p.Pro110Leu	rs991708313	missense variant	-	NC_000014.9:g.53951894G>A	TOPMed,gnomAD
BMP4	P12644	p.Arg113Pro	rs549252141	missense variant	-	NC_000014.9:g.53951885C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg113Gln	rs549252141	missense variant	-	NC_000014.9:g.53951885C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala114Ser	rs747238009	missense variant	-	NC_000014.9:g.53951883C>A	ExAC,gnomAD
BMP4	P12644	p.Thr116Ser	rs750427266	missense variant	-	NC_000014.9:g.53951876G>C	ExAC,gnomAD
BMP4	P12644	p.Thr116Ser	rs750427266	missense variant	-	NC_000014.9:g.53951876G>C	UniProt,dbSNP
BMP4	P12644	p.Thr116Ser	VAR_043533	missense variant	-	NC_000014.9:g.53951876G>C	UniProt
BMP4	P12644	p.Thr116Ile	rs750427266	missense variant	-	NC_000014.9:g.53951876G>A	ExAC,gnomAD
BMP4	P12644	p.Thr116Ala	rs758526357	missense variant	-	NC_000014.9:g.53951877T>C	ExAC,gnomAD
BMP4	P12644	p.Val117Leu	rs527591537	missense variant	-	NC_000014.9:g.53951874C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val117Met	rs527591537	missense variant	-	NC_000014.9:g.53951874C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His121Tyr	RCV000644619	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951862G>A	ClinVar
BMP4	P12644	p.His121Arg	rs376960358	missense variant	-	NC_000014.9:g.53951861T>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His121Tyr	rs754308298	missense variant	-	NC_000014.9:g.53951862G>A	ExAC,gnomAD
BMP4	P12644	p.His121Arg	RCV000022458	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951861T>C	ClinVar
BMP4	P12644	p.His122Arg	rs1185134822	missense variant	-	NC_000014.9:g.53951858T>C	TOPMed
BMP4	P12644	p.Glu123Lys	rs766091993	missense variant	-	NC_000014.9:g.53951856C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu124Lys	rs976229577	missense variant	-	NC_000014.9:g.53951853C>T	TOPMed,gnomAD
BMP4	P12644	p.His125Tyr	rs781409191	missense variant	-	NC_000014.9:g.53950886G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Leu126Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950883G>C	NCI-TCGA
BMP4	P12644	p.Glu127Ter	RCV000481644	frameshift	-	NC_000014.9:g.53950869_53950881del	ClinVar
BMP4	P12644	p.Asn128Ser	rs1274761010	missense variant	-	NC_000014.9:g.53950876T>C	TOPMed,gnomAD
BMP4	P12644	p.Pro130Leu	rs1439264646	missense variant	-	NC_000014.9:g.53950870G>A	gnomAD
BMP4	P12644	p.Pro130Ala	rs1257520804	missense variant	-	NC_000014.9:g.53950871G>C	TOPMed
BMP4	P12644	p.Thr132Ala	rs199935719	missense variant	-	NC_000014.9:g.53950865T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr132Ser	rs199935719	missense variant	-	NC_000014.9:g.53950865T>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser133Asn	rs1009117343	missense variant	-	NC_000014.9:g.53950861C>T	TOPMed
BMP4	P12644	p.Asn135Asp	rs750057569	missense variant	-	NC_000014.9:g.53950856T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn135Ile	COSM433139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950855T>A	NCI-TCGA Cosmic
BMP4	P12644	p.Ser136Thr	rs764897002	missense variant	-	NC_000014.9:g.53950853A>T	ExAC,gnomAD
BMP4	P12644	p.Ala137Pro	rs756790824	missense variant	-	NC_000014.9:g.53950850C>G	ExAC,gnomAD
BMP4	P12644	p.Arg139His	rs773804981	missense variant	-	NC_000014.9:g.53950843C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg139Cys	rs753312749	missense variant	-	NC_000014.9:g.53950844G>A	ExAC,gnomAD
BMP4	P12644	p.Phe140Ile	rs1235554786	missense variant	-	NC_000014.9:g.53950841A>T	TOPMed,gnomAD
BMP4	P12644	p.Leu141Ile	COSM956290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950838G>T	NCI-TCGA Cosmic
BMP4	P12644	p.Ser145Thr	rs1050432864	missense variant	-	NC_000014.9:g.53950825C>G	gnomAD
BMP4	P12644	p.Ser145Asn	rs1050432864	missense variant	-	NC_000014.9:g.53950825C>T	gnomAD
BMP4	P12644	p.Pro148Ser	rs760592277	missense variant	-	NC_000014.9:g.53950817G>A	ExAC,gnomAD
BMP4	P12644	p.Asn150Lys	rs767216159	missense variant	-	NC_000014.9:g.53950809G>C	UniProt,dbSNP
BMP4	P12644	p.Asn150Lys	VAR_043534	missense variant	-	NC_000014.9:g.53950809G>C	UniProt
BMP4	P12644	p.Asn150Lys	rs767216159	missense variant	-	NC_000014.9:g.53950809G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn150Lys	RCV000782227	missense variant	-	NC_000014.9:g.53950809G>C	ClinVar
BMP4	P12644	p.Glu151Lys	COSM1579836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950808C>T	NCI-TCGA Cosmic
BMP4	P12644	p.Val152Met	rs1207131563	missense variant	-	NC_000014.9:g.53950805C>T	gnomAD
BMP4	P12644	p.Val152Ala	rs17563	missense variant	-	NC_000014.9:g.53950804A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val152Ala	RCV000178157	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
BMP4	P12644	p.Val152Ala	RCV000835434	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
BMP4	P12644	p.Ser154Phe	rs935421961	missense variant	-	NC_000014.9:g.53950798G>A	TOPMed,gnomAD
BMP4	P12644	p.Ser155Cys	COSM4849715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950795G>C	NCI-TCGA Cosmic
BMP4	P12644	p.Ser155Ala	COSM698354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950796A>C	NCI-TCGA Cosmic
BMP4	P12644	p.Ala156Gly	rs1305060001	missense variant	-	NC_000014.9:g.53950792G>C	gnomAD
BMP4	P12644	p.Glu157Gly	rs1440968616	missense variant	-	NC_000014.9:g.53950789T>C	gnomAD
BMP4	P12644	p.Arg159Trp	rs774455359	missense variant	-	NC_000014.9:g.53950784G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg159Gln	rs777406477	missense variant	-	NC_000014.9:g.53950783C>T	ExAC,gnomAD
BMP4	P12644	p.Phe161Leu	rs749431429	missense variant	-	NC_000014.9:g.53950778A>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg162Gln	rs770493925	missense variant	-	NC_000014.9:g.53950774C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg162Trp	rs773416502	missense variant	-	NC_000014.9:g.53950775G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln164Arg	rs1174412151	missense variant	-	NC_000014.9:g.53950768T>C	gnomAD
BMP4	P12644	p.Gln164His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950767C>A	NCI-TCGA
BMP4	P12644	p.Asp166Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950763C>A	NCI-TCGA
BMP4	P12644	p.Asp166Asn	rs372637689	missense variant	-	NC_000014.9:g.53950763C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly168Arg	rs373924774	missense variant	-	NC_000014.9:g.53950757C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly168Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950756C>T	NCI-TCGA
BMP4	P12644	p.Gly168Ala	VAR_058316	Missense	-	-	UniProt
BMP4	P12644	p.Asp170Val	rs1179170589	missense variant	-	NC_000014.9:g.53950750T>A	gnomAD
BMP4	P12644	p.Asp170Glu	rs747360940	missense variant	-	NC_000014.9:g.53950749A>T	ExAC,gnomAD
BMP4	P12644	p.Trp171Ter	RCV000485349	nonsense	-	NC_000014.9:g.53950747C>T	ClinVar
BMP4	P12644	p.Trp171Ter	rs1064796998	stop gained	-	NC_000014.9:g.53950747C>T	-
BMP4	P12644	p.Glu172Lys	rs200123542	missense variant	-	NC_000014.9:g.53950745C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg173Ser	rs1209155526	missense variant	-	NC_000014.9:g.53950740C>A	gnomAD
BMP4	P12644	p.Gly174Ser	rs1486964955	missense variant	-	NC_000014.9:g.53950739C>T	gnomAD
BMP4	P12644	p.Gly174Asp	rs1252264079	missense variant	-	NC_000014.9:g.53950738C>T	TOPMed
BMP4	P12644	p.His176Arg	rs1281665131	missense variant	-	NC_000014.9:g.53950732T>C	gnomAD
BMP4	P12644	p.His176Gln	rs1233416192	missense variant	-	NC_000014.9:g.53950731G>T	gnomAD
BMP4	P12644	p.Arg177His	rs201411996	missense variant	-	NC_000014.9:g.53950729C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg177Cys	rs1315829748	missense variant	-	NC_000014.9:g.53950730G>A	gnomAD
BMP4	P12644	p.Asn179Ser	rs1177781582	missense variant	-	NC_000014.9:g.53950723T>C	TOPMed
BMP4	P12644	p.Ile180Val	rs1225147273	missense variant	-	NC_000014.9:g.53950721T>C	gnomAD
BMP4	P12644	p.Val183Ile	rs917187711	missense variant	-	NC_000014.9:g.53950712C>T	TOPMed,gnomAD
BMP4	P12644	p.Met184Val	rs777260120	missense variant	-	NC_000014.9:g.53950709T>C	ExAC,gnomAD
BMP4	P12644	p.Met184Thr	rs1377262305	missense variant	-	NC_000014.9:g.53950708A>G	gnomAD
BMP4	P12644	p.Lys185Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950706T>C	NCI-TCGA
BMP4	P12644	p.Pro186Ser	rs1452882837	missense variant	-	NC_000014.9:g.53950703G>A	gnomAD
BMP4	P12644	p.Pro187Leu	rs755552169	missense variant	-	NC_000014.9:g.53950699G>A	ExAC,gnomAD
BMP4	P12644	p.Ala188Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950697C>A	NCI-TCGA
BMP4	P12644	p.Ala188Val	rs752585643	missense variant	-	NC_000014.9:g.53950696G>A	ExAC,gnomAD
BMP4	P12644	p.Ala188Gly	rs752585643	missense variant	-	NC_000014.9:g.53950696G>C	ExAC,gnomAD
BMP4	P12644	p.Glu189Val	rs767438166	missense variant	-	NC_000014.9:g.53950693T>A	ExAC,gnomAD
BMP4	P12644	p.Val190Met	rs759277724	missense variant	-	NC_000014.9:g.53950691C>T	ExAC,gnomAD
BMP4	P12644	p.Val190Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950690A>G	NCI-TCGA
BMP4	P12644	p.Val191Leu	rs1436341659	missense variant	-	NC_000014.9:g.53950688C>A	TOPMed
BMP4	P12644	p.Pro192Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950684G>A	NCI-TCGA
BMP4	P12644	p.Pro192Ser	rs1174239631	missense variant	-	NC_000014.9:g.53950685G>A	TOPMed
BMP4	P12644	p.Gly193Glu	rs147822607	missense variant	-	NC_000014.9:g.53950681C>T	ESP,ExAC,gnomAD
BMP4	P12644	p.Gly193Val	rs147822607	missense variant	-	NC_000014.9:g.53950681C>A	ESP,ExAC,gnomAD
BMP4	P12644	p.His194Tyr	rs1258588645	missense variant	-	NC_000014.9:g.53950679G>A	gnomAD
BMP4	P12644	p.Ile196Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950671G>C	NCI-TCGA
BMP4	P12644	p.Thr197Ile	rs766768360	missense variant	-	NC_000014.9:g.53950669G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg198Gly	rs387906597	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>C	ExAC,gnomAD
BMP4	P12644	p.Arg198Ter	RCV000022455	nonsense	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950667G>A	ClinVar
BMP4	P12644	p.Arg198Ter	RCV000022456	nonsense	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950667G>A	ClinVar
BMP4	P12644	p.Arg198Gln	rs773506129	missense variant	-	NC_000014.9:g.53950666C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg198Ter	rs387906597	stop gained	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>A	ExAC,gnomAD
BMP4	P12644	p.Asp201Ala	rs1217271620	missense variant	-	NC_000014.9:g.53950657T>G	gnomAD
BMP4	P12644	p.Thr202Met	rs770008356	missense variant	-	NC_000014.9:g.53950654G>A	ExAC,gnomAD
BMP4	P12644	p.Arg203Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950651C>G	NCI-TCGA
BMP4	P12644	p.Val205Ala	RCV000681619	missense variant	Tooth agenesis	NC_000014.9:g.53950645A>G	ClinVar
BMP4	P12644	p.His207Asp	rs1357135828	missense variant	-	NC_000014.9:g.53950640G>C	gnomAD
BMP4	P12644	p.His207Asn	rs1357135828	missense variant	-	NC_000014.9:g.53950640G>T	gnomAD
BMP4	P12644	p.His207Gln	rs769176364	missense variant	-	NC_000014.9:g.53950638G>T	ExAC,gnomAD
BMP4	P12644	p.Asn208Ser	rs556725634	missense variant	-	NC_000014.9:g.53950636T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn208His	rs747381784	missense variant	-	NC_000014.9:g.53950637T>G	ExAC,gnomAD
BMP4	P12644	p.Arg211Gln	rs777345984	missense variant	-	NC_000014.9:g.53950627C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg211Trp	rs748940819	missense variant	-	NC_000014.9:g.53950628G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Phe215Leu	rs1369424398	missense variant	-	NC_000014.9:g.53950616A>G	TOPMed,gnomAD
BMP4	P12644	p.Ala220Val	rs752209771	missense variant	-	NC_000014.9:g.53950600G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Leu222Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950595G>A	NCI-TCGA
BMP4	P12644	p.Arg223Cys	rs373023560	missense variant	-	NC_000014.9:g.53950592G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223Gly	rs373023560	missense variant	-	NC_000014.9:g.53950592G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223His	rs766285160	missense variant	-	NC_000014.9:g.53950591C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Trp224Cys	rs369481900	missense variant	-	NC_000014.9:g.53950587C>A	ESP,ExAC,gnomAD
BMP4	P12644	p.Thr225Ile	rs1464966808	missense variant	-	NC_000014.9:g.53950585G>A	gnomAD
BMP4	P12644	p.Thr225Ala	rs144556455	missense variant	-	NC_000014.9:g.53950586T>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr225Ala	rs144556455	missense variant	-	NC_000014.9:g.53950586T>C	UniProt,dbSNP
BMP4	P12644	p.Thr225Ala	VAR_043535	missense variant	-	NC_000014.9:g.53950586T>C	UniProt
BMP4	P12644	p.Thr225Ser	rs144556455	missense variant	-	NC_000014.9:g.53950586T>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Gly	rs140590144	missense variant	-	NC_000014.9:g.53950583G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	rs140590144	missense variant	-	NC_000014.9:g.53950583G>A	UniProt,dbSNP
BMP4	P12644	p.Arg226Trp	VAR_043536	missense variant	-	NC_000014.9:g.53950583G>A	UniProt
BMP4	P12644	p.Arg226Gln	rs538330477	missense variant	-	NC_000014.9:g.53950582C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	rs140590144	missense variant	-	NC_000014.9:g.53950583G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	RCV000594335	missense variant	-	NC_000014.9:g.53950583G>A	ClinVar
BMP4	P12644	p.Glu227Lys	COSM4893282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950580C>T	NCI-TCGA Cosmic
BMP4	P12644	p.Lys228Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950577T>C	NCI-TCGA
BMP4	P12644	p.Lys228Arg	rs1355254921	missense variant	-	NC_000014.9:g.53950576T>C	TOPMed
BMP4	P12644	p.Pro230Arg	rs775908956	missense variant	-	NC_000014.9:g.53950570G>C	ExAC,gnomAD
BMP4	P12644	p.Tyr232Asp	rs1019914230	missense variant	-	NC_000014.9:g.53950565A>C	TOPMed
BMP4	P12644	p.Leu234Val	rs1329613424	missense variant	-	NC_000014.9:g.53950559G>C	TOPMed
BMP4	P12644	p.Ile236Leu	rs746179366	missense variant	-	NC_000014.9:g.53950553T>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu237Lys	rs1297626764	missense variant	-	NC_000014.9:g.53950550C>T	TOPMed,gnomAD
BMP4	P12644	p.Val238Met	rs1292637209	missense variant	-	NC_000014.9:g.53950547C>T	gnomAD
BMP4	P12644	p.Leu241Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950538G>T	NCI-TCGA
BMP4	P12644	p.Leu241Phe	rs1216902223	missense variant	-	NC_000014.9:g.53950538G>A	TOPMed
BMP4	P12644	p.Thr244Asn	rs567804941	missense variant	-	NC_000014.9:g.53950528G>T	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Thr244Ile	rs567804941	missense variant	-	NC_000014.9:g.53950528G>A	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Arg245Trp	rs769454152	missense variant	-	NC_000014.9:g.53950526G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg245Gln	rs149883007	missense variant	-	NC_000014.9:g.53950525C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His247Asp	rs1217451740	missense variant	-	NC_000014.9:g.53950520G>C	TOPMed
BMP4	P12644	p.Gly249Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950513C>G	NCI-TCGA
BMP4	P12644	p.Gln250His	COSM956289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950509C>A	NCI-TCGA Cosmic
BMP4	P12644	p.His251Tyr	RCV000490360	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950508G>A	ClinVar
BMP4	P12644	p.His251Tyr	rs200671094	missense variant	-	NC_000014.9:g.53950508G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His251Asn	rs200671094	missense variant	-	NC_000014.9:g.53950508G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val252Ile	COSM956288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950505C>T	NCI-TCGA Cosmic
BMP4	P12644	p.Ser255Asn	rs1171733069	missense variant	-	NC_000014.9:g.53950495C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg256Gln	rs746984770	missense variant	-	NC_000014.9:g.53950492C>T	ExAC,gnomAD
BMP4	P12644	p.Ser257Leu	rs889958974	missense variant	-	NC_000014.9:g.53950489G>A	TOPMed
BMP4	P12644	p.Ser257Pro	rs780091128	missense variant	-	NC_000014.9:g.53950490A>G	ExAC,gnomAD
BMP4	P12644	p.Pro259Leu	rs1195073655	missense variant	-	NC_000014.9:g.53950483G>A	gnomAD
BMP4	P12644	p.Pro259His	rs1195073655	missense variant	-	NC_000014.9:g.53950483G>T	gnomAD
BMP4	P12644	p.Ser262Asn	rs1312619081	missense variant	-	NC_000014.9:g.53950474C>T	gnomAD
BMP4	P12644	p.Asn264Ser	rs1252781950	missense variant	-	NC_000014.9:g.53950468T>C	TOPMed,gnomAD
BMP4	P12644	p.Asn264Tyr	rs750213467	missense variant	-	NC_000014.9:g.53950469T>A	ExAC,gnomAD
BMP4	P12644	p.Trp265Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950464C>A	NCI-TCGA
BMP4	P12644	p.Ala266GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.53950462_53950463insCC	NCI-TCGA
BMP4	P12644	p.Ala266Val	rs898938343	missense variant	-	NC_000014.9:g.53950462G>A	TOPMed
BMP4	P12644	p.Arg269Trp	rs1347000643	missense variant	-	NC_000014.9:g.53950454G>A	TOPMed,gnomAD
BMP4	P12644	p.Arg269Gln	rs534215890	missense variant	-	NC_000014.9:g.53950453C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val273Ile	rs775995114	missense variant	-	NC_000014.9:g.53950442C>T	ExAC,gnomAD
BMP4	P12644	p.Val273Phe	rs775995114	missense variant	-	NC_000014.9:g.53950442C>A	ExAC,gnomAD
BMP4	P12644	p.Val273Leu	rs775995114	missense variant	-	NC_000014.9:g.53950442C>G	ExAC,gnomAD
BMP4	P12644	p.His277Leu	rs767969165	missense variant	-	NC_000014.9:g.53950429T>A	ExAC,gnomAD
BMP4	P12644	p.His277Arg	rs767969165	missense variant	-	NC_000014.9:g.53950429T>C	ExAC,gnomAD
BMP4	P12644	p.Arg280Gln	rs776094026	missense variant	-	NC_000014.9:g.53950420C>T	ExAC,gnomAD
BMP4	P12644	p.Arg280Gly	rs566882530	missense variant	-	NC_000014.9:g.53950421G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg280Trp	rs566882530	missense variant	-	NC_000014.9:g.53950421G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala283Gly	rs746478907	missense variant	-	NC_000014.9:g.53950411G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala283Val	rs746478907	missense variant	-	NC_000014.9:g.53950411G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr285Asn	rs538802825	missense variant	-	NC_000014.9:g.53950405G>T	TOPMed,gnomAD
BMP4	P12644	p.Thr285Ile	rs538802825	missense variant	-	NC_000014.9:g.53950405G>A	TOPMed,gnomAD
BMP4	P12644	p.Arg286Pro	rs550226363	missense variant	-	NC_000014.9:g.53950402C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Ter	rs1377644626	stop gained	-	NC_000014.9:g.53950403G>A	gnomAD
BMP4	P12644	p.Arg286Gln	rs550226363	missense variant	-	NC_000014.9:g.53950402C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Leu	rs550226363	missense variant	-	NC_000014.9:g.53950402C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287Cys	rs1435675398	missense variant	-	NC_000014.9:g.53950400G>A	gnomAD
BMP4	P12644	p.Arg287His	RCV000644620	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950399C>T	ClinVar
BMP4	P12644	p.Arg287Gly	rs1435675398	missense variant	-	NC_000014.9:g.53950400G>C	gnomAD
BMP4	P12644	p.Arg287Leu	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt,dbSNP
BMP4	P12644	p.Arg287His	VAR_058317	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt
BMP4	P12644	p.Arg288Gln	rs370847935	missense variant	-	NC_000014.9:g.53950396C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg288Trp	rs756935500	missense variant	-	NC_000014.9:g.53950397G>A	ExAC,gnomAD
BMP4	P12644	p.Arg289Lys	rs764169451	missense variant	-	NC_000014.9:g.53950393C>T	ExAC,gnomAD
BMP4	P12644	p.Ala290Thr	rs1345812773	missense variant	-	NC_000014.9:g.53950391C>T	gnomAD
BMP4	P12644	p.Lys291Glu	rs756246578	missense variant	-	NC_000014.9:g.53950388T>C	ExAC,gnomAD
BMP4	P12644	p.Arg292Leu	rs768059149	missense variant	-	NC_000014.9:g.53950384C>A	ExAC,gnomAD
BMP4	P12644	p.Arg292Cys	rs1237178811	missense variant	-	NC_000014.9:g.53950385G>A	gnomAD
BMP4	P12644	p.Arg292His	rs768059149	missense variant	-	NC_000014.9:g.53950384C>T	ExAC,gnomAD
BMP4	P12644	p.Ser293Ile	rs1413929466	missense variant	-	NC_000014.9:g.53950381C>A	gnomAD
BMP4	P12644	p.Ser293Gly	rs760034508	missense variant	-	NC_000014.9:g.53950382T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Pro294Arg	rs774776317	missense variant	-	NC_000014.9:g.53950378G>C	ExAC,gnomAD
BMP4	P12644	p.Ser298Ala	rs763183438	missense variant	-	NC_000014.9:g.53950367A>C	ExAC,gnomAD
BMP4	P12644	p.Arg300Gln	rs915821425	missense variant	-	NC_000014.9:g.53950360C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg300Trp	RCV000431465	missense variant	-	NC_000014.9:g.53950361G>A	ClinVar
BMP4	P12644	p.Arg300Trp	rs182373336	missense variant	-	NC_000014.9:g.53950361G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg300Pro	rs915821425	missense variant	-	NC_000014.9:g.53950360C>G	TOPMed,gnomAD
BMP4	P12644	p.Ala301Thr	rs568950541	missense variant	-	NC_000014.9:g.53950358C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala301Val	rs1472412685	missense variant	-	NC_000014.9:g.53950357G>A	gnomAD
BMP4	P12644	p.Lys304Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950347C>A	NCI-TCGA
BMP4	P12644	p.Lys304Glu	rs775129155	missense variant	-	NC_000014.9:g.53950349T>C	ExAC,gnomAD
BMP4	P12644	p.Asn305Asp	rs1255053325	missense variant	-	NC_000014.9:g.53950346T>C	gnomAD
BMP4	P12644	p.Asn305His	rs1255053325	missense variant	-	NC_000014.9:g.53950346T>G	gnomAD
BMP4	P12644	p.Asn305Lys	rs1212973775	missense variant	-	NC_000014.9:g.53950344A>C	gnomAD
BMP4	P12644	p.Lys306Asn	rs1442880704	missense variant	-	NC_000014.9:g.53950341C>A	gnomAD
BMP4	P12644	p.Arg309Trp	rs745803587	missense variant	-	NC_000014.9:g.53950334G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg309Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950333C>A	NCI-TCGA
BMP4	P12644	p.Arg309Gln	rs778657318	missense variant	-	NC_000014.9:g.53950333C>T	ExAC,gnomAD
BMP4	P12644	p.Arg310Cys	rs770777693	missense variant	-	NC_000014.9:g.53950331G>A	ExAC,gnomAD
BMP4	P12644	p.Arg310His	rs1268997444	missense variant	-	NC_000014.9:g.53950330C>T	gnomAD
BMP4	P12644	p.His311Leu	rs748992658	missense variant	-	NC_000014.9:g.53950327T>A	ExAC,gnomAD
BMP4	P12644	p.Ser312Leu	rs778093557	missense variant	-	NC_000014.9:g.53950324G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Tyr314Cys	rs1449428755	missense variant	-	NC_000014.9:g.53950318T>C	gnomAD
BMP4	P12644	p.Val315Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950315A>G	NCI-TCGA
BMP4	P12644	p.Ser318Asn	rs1376463051	missense variant	-	NC_000014.9:g.53950306C>T	TOPMed
BMP4	P12644	p.Asp319Asn	rs1225275541	missense variant	-	NC_000014.9:g.53950304C>T	TOPMed
BMP4	P12644	p.Ile326Thr	rs1352713791	missense variant	-	NC_000014.9:g.53950282A>G	TOPMed
BMP4	P12644	p.Val327Met	rs1159448000	missense variant	-	NC_000014.9:g.53950280C>T	gnomAD
BMP4	P12644	p.Ala328Ser	rs1460556403	missense variant	-	NC_000014.9:g.53950277C>A	gnomAD
BMP4	P12644	p.Gly331Arg	rs1214439151	missense variant	-	NC_000014.9:g.53950268C>G	TOPMed
BMP4	P12644	p.Gly331Asp	COSM3968841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950267C>T	NCI-TCGA Cosmic
BMP4	P12644	p.Ala334Val	rs550409227	missense variant	-	NC_000014.9:g.53950258G>A	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Ala334Thr	rs1384567460	missense variant	-	NC_000014.9:g.53950259C>T	TOPMed
BMP4	P12644	p.Cys337Ter	COSM433138	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.53950248G>T	NCI-TCGA Cosmic
BMP4	P12644	p.Asp340Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950240T>C	NCI-TCGA
BMP4	P12644	p.Asp340Asn	rs190987062	missense variant	-	NC_000014.9:g.53950241C>T	1000Genomes
BMP4	P12644	p.Phe343Ser	rs1264875263	missense variant	-	NC_000014.9:g.53950231A>G	gnomAD
BMP4	P12644	p.Ala346Val	rs121912766	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950222G>A	-
BMP4	P12644	p.Ala346Val	rs121912766	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt,dbSNP
BMP4	P12644	p.Ala346Val	VAR_058318	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt
BMP4	P12644	p.Ala346Val	RCV000019276	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	ClinVar
BMP4	P12644	p.Asp347Gly	rs763416550	missense variant	-	NC_000014.9:g.53950219T>C	ExAC,gnomAD
BMP4	P12644	p.His348Tyr	rs1213342000	missense variant	-	NC_000014.9:g.53950217G>A	gnomAD
BMP4	P12644	p.His348Pro	rs763867295	missense variant	-	NC_000014.9:g.53950216T>G	ExAC
BMP4	P12644	p.His348Gln	rs199621081	missense variant	-	NC_000014.9:g.53950215G>T	1000Genomes
BMP4	P12644	p.Asn350Lys	rs1332893471	missense variant	-	NC_000014.9:g.53950209G>C	TOPMed,gnomAD
BMP4	P12644	p.Thr352Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950205T>A	NCI-TCGA
BMP4	P12644	p.Ala355Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950196C>T	NCI-TCGA
BMP4	P12644	p.Ala355Val	COSM1370128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950195G>A	NCI-TCGA Cosmic
BMP4	P12644	p.Val357Met	rs1275495197	missense variant	-	NC_000014.9:g.53950190C>T	gnomAD
BMP4	P12644	p.Thr359Ile	rs760397289	missense variant	-	NC_000014.9:g.53950183G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr359Asn	rs760397289	missense variant	-	NC_000014.9:g.53950183G>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn362Ser	rs546306238	missense variant	-	NC_000014.9:g.53950174T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser363Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950171G>A	NCI-TCGA
BMP4	P12644	p.Asn365Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950164A>C	NCI-TCGA
BMP4	P12644	p.Ser366Ala	rs979032376	missense variant	-	NC_000014.9:g.53950163A>C	TOPMed
BMP4	P12644	p.Ser366Phe	rs1433417350	missense variant	-	NC_000014.9:g.53950162G>A	gnomAD
BMP4	P12644	p.Ser367Thr	rs1320581580	missense variant	-	NC_000014.9:g.53950159C>G	gnomAD
BMP4	P12644	p.Ser367Thr	rs1320581580	missense variant	-	NC_000014.9:g.53950159C>G	UniProt,dbSNP
BMP4	P12644	p.Ser367Thr	VAR_043537	missense variant	-	NC_000014.9:g.53950159C>G	UniProt
BMP4	P12644	p.Ser367Arg	rs150746317	missense variant	-	NC_000014.9:g.53950160T>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys370Asn	COSM6076088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950149T>A	NCI-TCGA Cosmic
BMP4	P12644	p.Ala371Thr	rs1439765696	missense variant	-	NC_000014.9:g.53950148C>T	gnomAD
BMP4	P12644	p.Val374Ala	rs1332872933	missense variant	-	NC_000014.9:g.53950138A>G	TOPMed
BMP4	P12644	p.Leu378Met	rs1166736941	missense variant	-	NC_000014.9:g.53950127G>T	gnomAD
BMP4	P12644	p.Ser379Asn	rs774372624	missense variant	-	NC_000014.9:g.53950123C>T	ExAC,gnomAD
BMP4	P12644	p.Ile381Val	rs1020828966	missense variant	-	NC_000014.9:g.53950118T>C	TOPMed
BMP4	P12644	p.Tyr385Phe	rs1166095129	missense variant	-	NC_000014.9:g.53950105T>A	gnomAD
BMP4	P12644	p.Tyr385Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950105T>C	NCI-TCGA
BMP4	P12644	p.Asp387Asn	COSM6140882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950100C>T	NCI-TCGA Cosmic
BMP4	P12644	p.Asp390Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950091C>A	NCI-TCGA
BMP4	P12644	p.Lys391Arg	rs755080929	missense variant	-	NC_000014.9:g.53950087T>C	ExAC,gnomAD
BMP4	P12644	p.Lys391Glu	rs781343227	missense variant	-	NC_000014.9:g.53950088T>C	ExAC
BMP4	P12644	p.Val393Ala	COSM4051316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950081A>G	NCI-TCGA Cosmic
BMP4	P12644	p.Leu394Pro	rs965380934	missense variant	-	NC_000014.9:g.53950078A>G	TOPMed
BMP4	P12644	p.Asn396Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950072T>C	NCI-TCGA
BMP4	P12644	p.Asn396Lys	COSM956284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950071A>C	NCI-TCGA Cosmic
BMP4	P12644	p.Tyr397His	rs751566461	missense variant	-	NC_000014.9:g.53950070A>G	ExAC
BMP4	P12644	p.Glu399Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.53950064C>G	NCI-TCGA
BMP4	P12644	p.Glu403Gln	rs1237655395	missense variant	-	NC_000014.9:g.53950052C>G	TOPMed
BMP4	P12644	p.Gly404Val	COSM6076089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950048C>A	NCI-TCGA Cosmic
BMP4	P12644	p.Gly404Arg	COSM1323482	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.53950049C>G	NCI-TCGA Cosmic
BMP4	P12644	p.Cys407Tyr	rs1271270966	missense variant	-	NC_000014.9:g.53950039C>T	gnomAD
BMP4	P12644	p.Arg408His	rs750868626	missense variant	-	NC_000014.9:g.53950036C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg408Cys	rs868400180	missense variant	-	NC_000014.9:g.53950037G>A	-
BMP4	P12644	p.Ile2Phe	rs760019960	missense variant	-	NC_000014.9:g.53952219T>A	ExAC,gnomAD
BMP4	P12644	p.Pro3Leu	rs774777993	missense variant	-	NC_000014.9:g.53952215G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn5Ser	rs771302149	missense variant	-	NC_000014.9:g.53952209T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg6Gln	rs377379589	missense variant	-	NC_000014.9:g.53952206C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Met7Ile	rs780741859	missense variant	-	NC_000014.9:g.53952202C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Met9Thr	rs746551997	missense variant	-	NC_000014.9:g.53952197A>G	ExAC,gnomAD
BMP4	P12644	p.Cys14Tyr	rs779603940	missense variant	-	NC_000014.9:g.53952182C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln15His	rs1276201527	missense variant	-	NC_000014.9:g.53952178T>G	TOPMed
BMP4	P12644	p.Gln15Glu	rs1236268255	missense variant	-	NC_000014.9:g.53952180G>C	TOPMed
BMP4	P12644	p.Gly20Ser	RCV000681618	missense variant	Tooth agenesis	NC_000014.9:g.53952165C>T	ClinVar
BMP4	P12644	p.Ala21Gly	rs757138929	missense variant	-	NC_000014.9:g.53952161G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Val	rs757138929	missense variant	-	NC_000014.9:g.53952161G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Ser	rs1377054583	missense variant	-	NC_000014.9:g.53952162C>A	TOPMed,gnomAD
BMP4	P12644	p.Ala21Glu	rs757138929	missense variant	-	NC_000014.9:g.53952161G>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Thr	rs1377054583	missense variant	-	NC_000014.9:g.53952162C>T	TOPMed,gnomAD
BMP4	P12644	p.Ser25Arg	rs756334837	missense variant	-	NC_000014.9:g.53952148A>C	ExAC,gnomAD
BMP4	P12644	p.Ser25Asn	rs1161431139	missense variant	-	NC_000014.9:g.53952149C>T	TOPMed,gnomAD
BMP4	P12644	p.Ile27Met	rs1486737404	missense variant	-	NC_000014.9:g.53952142T>C	TOPMed,gnomAD
BMP4	P12644	p.Ile27Leu	rs1180347739	missense variant	-	NC_000014.9:g.53952144T>G	gnomAD
BMP4	P12644	p.Glu29Asp	rs767626507	missense variant	-	NC_000014.9:g.53952136C>G	ExAC,gnomAD
BMP4	P12644	p.Glu29Gln	rs1258691934	missense variant	-	NC_000014.9:g.53952138C>G	gnomAD
BMP4	P12644	p.Thr30Ala	rs759558138	missense variant	-	NC_000014.9:g.53952135T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr30Met	rs565895316	missense variant	-	NC_000014.9:g.53952134G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly31Glu	rs928764774	missense variant	-	NC_000014.9:g.53952131C>T	TOPMed
BMP4	P12644	p.Lys32Gln	rs1311306185	missense variant	-	NC_000014.9:g.53952129T>G	gnomAD
BMP4	P12644	p.Ala36Ser	rs774938531	missense variant	-	NC_000014.9:g.53952117C>A	ExAC
BMP4	P12644	p.Ala36Thr	rs774938531	missense variant	-	NC_000014.9:g.53952117C>T	ExAC
BMP4	P12644	p.Glu37Gly	rs779024090	missense variant	-	NC_000014.9:g.53952113T>C	ExAC,gnomAD
BMP4	P12644	p.Glu37Asp	rs150187403	missense variant	-	NC_000014.9:g.53952112C>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly40Asp	rs777606324	missense variant	-	NC_000014.9:g.53952104C>T	ExAC,gnomAD
BMP4	P12644	p.Gly40Ser	rs749083527	missense variant	-	NC_000014.9:g.53952105C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.His41Gln	rs756353828	missense variant	-	NC_000014.9:g.53952100G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala42Ser	rs140920120	missense variant	-	NC_000014.9:g.53952099C>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala42Pro	rs140920120	missense variant	-	NC_000014.9:g.53952099C>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly43Glu	rs1476321924	missense variant	-	NC_000014.9:g.53952095C>T	gnomAD
BMP4	P12644	p.Arg46His	rs1418818779	missense variant	-	NC_000014.9:g.53952086C>T	gnomAD
BMP4	P12644	p.His51Gln	rs950786038	missense variant	-	NC_000014.9:g.53952070A>C	gnomAD
BMP4	P12644	p.Leu53Phe	rs1250647011	missense variant	-	NC_000014.9:g.53952066G>A	TOPMed
BMP4	P12644	p.Leu53Pro	rs1264231997	missense variant	-	NC_000014.9:g.53952065A>G	gnomAD
BMP4	P12644	p.Arg55Trp	rs767590018	missense variant	-	NC_000014.9:g.53952060G>A	ExAC,gnomAD
BMP4	P12644	p.Arg55Gln	rs755084602	missense variant	-	NC_000014.9:g.53952059C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg55Leu	rs755084602	missense variant	-	NC_000014.9:g.53952059C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asp56Glu	rs547716844	missense variant	-	NC_000014.9:g.53952055G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Phe57Leu	rs763439953	missense variant	-	NC_000014.9:g.53952052G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu58Gln	rs773516930	missense variant	-	NC_000014.9:g.53952051C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu58Gly	rs765639993	missense variant	-	NC_000014.9:g.53952050T>C	ExAC,gnomAD
BMP4	P12644	p.Ala59Val	rs1297365466	missense variant	-	NC_000014.9:g.53952047G>A	gnomAD
BMP4	P12644	p.Thr60Ser	rs1382742836	missense variant	-	NC_000014.9:g.53952045T>A	gnomAD
BMP4	P12644	p.Gln63His	rs1429432757	missense variant	-	NC_000014.9:g.53952034C>G	TOPMed
BMP4	P12644	p.Met64Val	rs1048864355	missense variant	-	NC_000014.9:g.53952033T>C	TOPMed
BMP4	P12644	p.Gly66Glu	RCV000722884	missense variant	-	NC_000014.9:g.53952026C>T	ClinVar
BMP4	P12644	p.Arg68His	rs1389867082	missense variant	-	NC_000014.9:g.53952020C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg69His	rs1166450278	missense variant	-	NC_000014.9:g.53952017C>T	TOPMed
BMP4	P12644	p.Arg70Cys	rs1394669206	missense variant	-	NC_000014.9:g.53952015G>A	TOPMed
BMP4	P12644	p.Arg70His	rs775230487	missense variant	-	NC_000014.9:g.53952014C>T	ExAC,gnomAD
BMP4	P12644	p.Pro71Gln	rs771808387	missense variant	-	NC_000014.9:g.53952011G>T	ExAC,gnomAD
BMP4	P12644	p.Pro71Arg	rs771808387	missense variant	-	NC_000014.9:g.53952011G>C	ExAC,gnomAD
BMP4	P12644	p.Gln72Arg	rs771047931	missense variant	-	NC_000014.9:g.53952008T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln72Arg	RCV000355940	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000301329	missense variant	Orofacial cleft	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000439978	missense variant	-	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000341050	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000393894	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Ser74Gly	rs1006741808	missense variant	-	NC_000014.9:g.53952003T>C	TOPMed,gnomAD
BMP4	P12644	p.Lys75Arg	rs777501416	missense variant	-	NC_000014.9:g.53951999T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys75Arg	RCV000400269	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000438985	missense variant	-	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000289710	missense variant	Orofacial cleft	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000286084	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000344659	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Ser76Thr	rs1382538211	missense variant	-	NC_000014.9:g.53951996C>G	TOPMed
BMP4	P12644	p.Ser76Arg	rs114957446	missense variant	-	NC_000014.9:g.53951995A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala77Val	rs1469412041	missense variant	-	NC_000014.9:g.53951993G>A	gnomAD
BMP4	P12644	p.Pro80Leu	rs1011657927	missense variant	-	NC_000014.9:g.53951984G>A	-
BMP4	P12644	p.Tyr82His	rs1337000514	missense variant	-	NC_000014.9:g.53951979A>G	TOPMed,gnomAD
BMP4	P12644	p.Leu86Ile	rs377676306	missense variant	-	NC_000014.9:g.53951967G>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Tyr87Phe	rs751697119	missense variant	-	NC_000014.9:g.53951963T>A	ExAC,gnomAD
BMP4	P12644	p.Arg88Trp	rs1301153846	missense variant	-	NC_000014.9:g.53951961G>A	TOPMed,gnomAD
BMP4	P12644	p.Leu89Phe	rs200488679	missense variant	-	NC_000014.9:g.53951958G>A	1000Genomes
BMP4	P12644	p.Ser91Cys	rs121912767	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt,dbSNP
BMP4	P12644	p.Ser91Cys	VAR_043531	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt
BMP4	P12644	p.Ser91Cys	rs121912767	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53951951G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser91Cys	RCV000019277	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	ClinVar
BMP4	P12644	p.Glu93Gly	rs121912765	missense variant	-	NC_000014.9:g.53951945T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu93Gly	rs121912765	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt,dbSNP
BMP4	P12644	p.Glu93Gly	VAR_043532	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt
BMP4	P12644	p.Glu93Gly	RCV000019275	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951945T>C	ClinVar
BMP4	P12644	p.Glu95Lys	rs1398877232	missense variant	-	NC_000014.9:g.53951940C>T	gnomAD
BMP4	P12644	p.Glu96Lys	rs1168891139	missense variant	-	NC_000014.9:g.53951937C>T	gnomAD
BMP4	P12644	p.Glu97Asp	rs1426072881	missense variant	-	NC_000014.9:g.53951932C>G	TOPMed
BMP4	P12644	p.Gln98Arg	rs1376487986	missense variant	-	NC_000014.9:g.53951930T>C	gnomAD
BMP4	P12644	p.Ile99Val	rs1417794324	missense variant	-	NC_000014.9:g.53951928T>C	TOPMed
BMP4	P12644	p.Ile99Phe	rs1417794324	missense variant	-	NC_000014.9:g.53951928T>A	TOPMed
BMP4	P12644	p.Ser101Arg	rs1196073983	missense variant	-	NC_000014.9:g.53951920G>T	gnomAD
BMP4	P12644	p.Thr102Ala	rs202159001	missense variant	-	NC_000014.9:g.53951919T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr102Ala	RCV000290196	missense variant	-	NC_000014.9:g.53951919T>C	ClinVar
BMP4	P12644	p.Thr102Ile	rs371239780	missense variant	-	NC_000014.9:g.53951918G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly103Ser	rs1177418822	missense variant	-	NC_000014.9:g.53951916C>T	gnomAD
BMP4	P12644	p.Glu105Lys	rs1322581101	missense variant	-	NC_000014.9:g.53951910C>T	gnomAD
BMP4	P12644	p.Tyr106Cys	rs1344050675	missense variant	-	NC_000014.9:g.53951906T>C	gnomAD
BMP4	P12644	p.Tyr106His	rs1456141352	missense variant	-	NC_000014.9:g.53951907A>G	gnomAD
BMP4	P12644	p.Glu108Gln	rs1454041222	missense variant	-	NC_000014.9:g.53951901C>G	TOPMed
BMP4	P12644	p.Arg109Cys	rs1288064472	missense variant	-	NC_000014.9:g.53951898G>A	TOPMed
BMP4	P12644	p.Arg109His	rs773235106	missense variant	-	NC_000014.9:g.53951897C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg109Pro	rs773235106	missense variant	-	NC_000014.9:g.53951897C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg109Leu	rs773235106	missense variant	-	NC_000014.9:g.53951897C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Pro110Leu	rs991708313	missense variant	-	NC_000014.9:g.53951894G>A	TOPMed,gnomAD
BMP4	P12644	p.Arg113Pro	rs549252141	missense variant	-	NC_000014.9:g.53951885C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg113Gln	rs549252141	missense variant	-	NC_000014.9:g.53951885C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala114Ser	rs747238009	missense variant	-	NC_000014.9:g.53951883C>A	ExAC,gnomAD
BMP4	P12644	p.Thr116Ile	rs750427266	missense variant	-	NC_000014.9:g.53951876G>A	ExAC,gnomAD
BMP4	P12644	p.Thr116Ser	rs750427266	missense variant	-	NC_000014.9:g.53951876G>C	UniProt,dbSNP
BMP4	P12644	p.Thr116Ser	VAR_043533	missense variant	-	NC_000014.9:g.53951876G>C	UniProt
BMP4	P12644	p.Thr116Ser	rs750427266	missense variant	-	NC_000014.9:g.53951876G>C	ExAC,gnomAD
BMP4	P12644	p.Thr116Ala	rs758526357	missense variant	-	NC_000014.9:g.53951877T>C	ExAC,gnomAD
BMP4	P12644	p.Val117Leu	rs527591537	missense variant	-	NC_000014.9:g.53951874C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val117Met	rs527591537	missense variant	-	NC_000014.9:g.53951874C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His121Tyr	rs754308298	missense variant	-	NC_000014.9:g.53951862G>A	ExAC,gnomAD
BMP4	P12644	p.His121Arg	rs376960358	missense variant	-	NC_000014.9:g.53951861T>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His121Tyr	RCV000644619	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951862G>A	ClinVar
BMP4	P12644	p.His121Arg	RCV000022458	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951861T>C	ClinVar
BMP4	P12644	p.His122Arg	rs1185134822	missense variant	-	NC_000014.9:g.53951858T>C	TOPMed
BMP4	P12644	p.Glu123Lys	rs766091993	missense variant	-	NC_000014.9:g.53951856C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu124Lys	rs976229577	missense variant	-	NC_000014.9:g.53951853C>T	TOPMed,gnomAD
BMP4	P12644	p.His125Tyr	rs781409191	missense variant	-	NC_000014.9:g.53950886G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu127Ter	RCV000481644	frameshift	-	NC_000014.9:g.53950869_53950881del	ClinVar
BMP4	P12644	p.Asn128Ser	rs1274761010	missense variant	-	NC_000014.9:g.53950876T>C	TOPMed,gnomAD
BMP4	P12644	p.Pro130Leu	rs1439264646	missense variant	-	NC_000014.9:g.53950870G>A	gnomAD
BMP4	P12644	p.Pro130Ala	rs1257520804	missense variant	-	NC_000014.9:g.53950871G>C	TOPMed
BMP4	P12644	p.Thr132Ala	rs199935719	missense variant	-	NC_000014.9:g.53950865T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr132Ser	rs199935719	missense variant	-	NC_000014.9:g.53950865T>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser133Asn	rs1009117343	missense variant	-	NC_000014.9:g.53950861C>T	TOPMed
BMP4	P12644	p.Asn135Asp	rs750057569	missense variant	-	NC_000014.9:g.53950856T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser136Thr	rs764897002	missense variant	-	NC_000014.9:g.53950853A>T	ExAC,gnomAD
BMP4	P12644	p.Ala137Pro	rs756790824	missense variant	-	NC_000014.9:g.53950850C>G	ExAC,gnomAD
BMP4	P12644	p.Arg139His	rs773804981	missense variant	-	NC_000014.9:g.53950843C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg139Cys	rs753312749	missense variant	-	NC_000014.9:g.53950844G>A	ExAC,gnomAD
BMP4	P12644	p.Phe140Ile	rs1235554786	missense variant	-	NC_000014.9:g.53950841A>T	TOPMed,gnomAD
BMP4	P12644	p.Ser145Thr	rs1050432864	missense variant	-	NC_000014.9:g.53950825C>G	gnomAD
BMP4	P12644	p.Ser145Asn	rs1050432864	missense variant	-	NC_000014.9:g.53950825C>T	gnomAD
BMP4	P12644	p.Pro148Ser	rs760592277	missense variant	-	NC_000014.9:g.53950817G>A	ExAC,gnomAD
BMP4	P12644	p.Asn150Lys	rs767216159	missense variant	-	NC_000014.9:g.53950809G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn150Lys	rs767216159	missense variant	-	NC_000014.9:g.53950809G>C	UniProt,dbSNP
BMP4	P12644	p.Asn150Lys	VAR_043534	missense variant	-	NC_000014.9:g.53950809G>C	UniProt
BMP4	P12644	p.Asn150Lys	RCV000782227	missense variant	-	NC_000014.9:g.53950809G>C	ClinVar
BMP4	P12644	p.Val152Ala	rs17563	missense variant	-	NC_000014.9:g.53950804A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val152Met	rs1207131563	missense variant	-	NC_000014.9:g.53950805C>T	gnomAD
BMP4	P12644	p.Val152Ala	RCV000178157	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
BMP4	P12644	p.Val152Ala	RCV000835434	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
BMP4	P12644	p.Ser154Phe	rs935421961	missense variant	-	NC_000014.9:g.53950798G>A	TOPMed,gnomAD
BMP4	P12644	p.Ala156Gly	rs1305060001	missense variant	-	NC_000014.9:g.53950792G>C	gnomAD
BMP4	P12644	p.Glu157Gly	rs1440968616	missense variant	-	NC_000014.9:g.53950789T>C	gnomAD
BMP4	P12644	p.Arg159Trp	rs774455359	missense variant	-	NC_000014.9:g.53950784G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg159Gln	rs777406477	missense variant	-	NC_000014.9:g.53950783C>T	ExAC,gnomAD
BMP4	P12644	p.Phe161Leu	rs749431429	missense variant	-	NC_000014.9:g.53950778A>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg162Gln	rs770493925	missense variant	-	NC_000014.9:g.53950774C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg162Trp	rs773416502	missense variant	-	NC_000014.9:g.53950775G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln164Arg	rs1174412151	missense variant	-	NC_000014.9:g.53950768T>C	gnomAD
BMP4	P12644	p.Asp166Asn	rs372637689	missense variant	-	NC_000014.9:g.53950763C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly168Arg	rs373924774	missense variant	-	NC_000014.9:g.53950757C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly168Ala	VAR_058316	Missense	-	-	UniProt
BMP4	P12644	p.Asp170Glu	rs747360940	missense variant	-	NC_000014.9:g.53950749A>T	ExAC,gnomAD
BMP4	P12644	p.Asp170Val	rs1179170589	missense variant	-	NC_000014.9:g.53950750T>A	gnomAD
BMP4	P12644	p.Trp171Ter	rs1064796998	stop gained	-	NC_000014.9:g.53950747C>T	-
BMP4	P12644	p.Trp171Ter	RCV000485349	nonsense	-	NC_000014.9:g.53950747C>T	ClinVar
BMP4	P12644	p.Glu172Lys	rs200123542	missense variant	-	NC_000014.9:g.53950745C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg173Ser	rs1209155526	missense variant	-	NC_000014.9:g.53950740C>A	gnomAD
BMP4	P12644	p.Gly174Ser	rs1486964955	missense variant	-	NC_000014.9:g.53950739C>T	gnomAD
BMP4	P12644	p.Gly174Asp	rs1252264079	missense variant	-	NC_000014.9:g.53950738C>T	TOPMed
BMP4	P12644	p.His176Arg	rs1281665131	missense variant	-	NC_000014.9:g.53950732T>C	gnomAD
BMP4	P12644	p.His176Gln	rs1233416192	missense variant	-	NC_000014.9:g.53950731G>T	gnomAD
BMP4	P12644	p.Arg177Cys	rs1315829748	missense variant	-	NC_000014.9:g.53950730G>A	gnomAD
BMP4	P12644	p.Arg177His	rs201411996	missense variant	-	NC_000014.9:g.53950729C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn179Ser	rs1177781582	missense variant	-	NC_000014.9:g.53950723T>C	TOPMed
BMP4	P12644	p.Ile180Val	rs1225147273	missense variant	-	NC_000014.9:g.53950721T>C	gnomAD
BMP4	P12644	p.Val183Ile	rs917187711	missense variant	-	NC_000014.9:g.53950712C>T	TOPMed,gnomAD
BMP4	P12644	p.Met184Val	rs777260120	missense variant	-	NC_000014.9:g.53950709T>C	ExAC,gnomAD
BMP4	P12644	p.Met184Thr	rs1377262305	missense variant	-	NC_000014.9:g.53950708A>G	gnomAD
BMP4	P12644	p.Pro186Ser	rs1452882837	missense variant	-	NC_000014.9:g.53950703G>A	gnomAD
BMP4	P12644	p.Pro187Leu	rs755552169	missense variant	-	NC_000014.9:g.53950699G>A	ExAC,gnomAD
BMP4	P12644	p.Ala188Gly	rs752585643	missense variant	-	NC_000014.9:g.53950696G>C	ExAC,gnomAD
BMP4	P12644	p.Ala188Val	rs752585643	missense variant	-	NC_000014.9:g.53950696G>A	ExAC,gnomAD
BMP4	P12644	p.Glu189Val	rs767438166	missense variant	-	NC_000014.9:g.53950693T>A	ExAC,gnomAD
BMP4	P12644	p.Val190Met	rs759277724	missense variant	-	NC_000014.9:g.53950691C>T	ExAC,gnomAD
BMP4	P12644	p.Val191Leu	rs1436341659	missense variant	-	NC_000014.9:g.53950688C>A	TOPMed
BMP4	P12644	p.Pro192Ser	rs1174239631	missense variant	-	NC_000014.9:g.53950685G>A	TOPMed
BMP4	P12644	p.Gly193Val	rs147822607	missense variant	-	NC_000014.9:g.53950681C>A	ESP,ExAC,gnomAD
BMP4	P12644	p.Gly193Glu	rs147822607	missense variant	-	NC_000014.9:g.53950681C>T	ESP,ExAC,gnomAD
BMP4	P12644	p.His194Tyr	rs1258588645	missense variant	-	NC_000014.9:g.53950679G>A	gnomAD
BMP4	P12644	p.Thr197Ile	rs766768360	missense variant	-	NC_000014.9:g.53950669G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg198Gln	rs773506129	missense variant	-	NC_000014.9:g.53950666C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg198Ter	rs387906597	stop gained	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>A	ExAC,gnomAD
BMP4	P12644	p.Arg198Gly	rs387906597	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>C	ExAC,gnomAD
BMP4	P12644	p.Arg198Ter	RCV000022456	nonsense	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950667G>A	ClinVar
BMP4	P12644	p.Arg198Ter	RCV000022455	nonsense	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950667G>A	ClinVar
BMP4	P12644	p.Asp201Ala	rs1217271620	missense variant	-	NC_000014.9:g.53950657T>G	gnomAD
BMP4	P12644	p.Thr202Met	rs770008356	missense variant	-	NC_000014.9:g.53950654G>A	ExAC,gnomAD
BMP4	P12644	p.Val205Ala	RCV000681619	missense variant	Tooth agenesis	NC_000014.9:g.53950645A>G	ClinVar
BMP4	P12644	p.His207Asn	rs1357135828	missense variant	-	NC_000014.9:g.53950640G>T	gnomAD
BMP4	P12644	p.His207Gln	rs769176364	missense variant	-	NC_000014.9:g.53950638G>T	ExAC,gnomAD
BMP4	P12644	p.His207Asp	rs1357135828	missense variant	-	NC_000014.9:g.53950640G>C	gnomAD
BMP4	P12644	p.Asn208His	rs747381784	missense variant	-	NC_000014.9:g.53950637T>G	ExAC,gnomAD
BMP4	P12644	p.Asn208Ser	rs556725634	missense variant	-	NC_000014.9:g.53950636T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg211Gln	rs777345984	missense variant	-	NC_000014.9:g.53950627C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg211Trp	rs748940819	missense variant	-	NC_000014.9:g.53950628G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Phe215Leu	rs1369424398	missense variant	-	NC_000014.9:g.53950616A>G	TOPMed,gnomAD
BMP4	P12644	p.Ala220Val	rs752209771	missense variant	-	NC_000014.9:g.53950600G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223Cys	rs373023560	missense variant	-	NC_000014.9:g.53950592G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223Gly	rs373023560	missense variant	-	NC_000014.9:g.53950592G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223His	rs766285160	missense variant	-	NC_000014.9:g.53950591C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Trp224Cys	rs369481900	missense variant	-	NC_000014.9:g.53950587C>A	ESP,ExAC,gnomAD
BMP4	P12644	p.Thr225Ile	rs1464966808	missense variant	-	NC_000014.9:g.53950585G>A	gnomAD
BMP4	P12644	p.Thr225Ser	rs144556455	missense variant	-	NC_000014.9:g.53950586T>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr225Ala	rs144556455	missense variant	-	NC_000014.9:g.53950586T>C	UniProt,dbSNP
BMP4	P12644	p.Thr225Ala	VAR_043535	missense variant	-	NC_000014.9:g.53950586T>C	UniProt
BMP4	P12644	p.Thr225Ala	rs144556455	missense variant	-	NC_000014.9:g.53950586T>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Gly	rs140590144	missense variant	-	NC_000014.9:g.53950583G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	rs140590144	missense variant	-	NC_000014.9:g.53950583G>A	UniProt,dbSNP
BMP4	P12644	p.Arg226Trp	VAR_043536	missense variant	-	NC_000014.9:g.53950583G>A	UniProt
BMP4	P12644	p.Arg226Gln	rs538330477	missense variant	-	NC_000014.9:g.53950582C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	rs140590144	missense variant	-	NC_000014.9:g.53950583G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	RCV000594335	missense variant	-	NC_000014.9:g.53950583G>A	ClinVar
BMP4	P12644	p.Lys228Arg	rs1355254921	missense variant	-	NC_000014.9:g.53950576T>C	TOPMed
BMP4	P12644	p.Pro230Arg	rs775908956	missense variant	-	NC_000014.9:g.53950570G>C	ExAC,gnomAD
BMP4	P12644	p.Tyr232Asp	rs1019914230	missense variant	-	NC_000014.9:g.53950565A>C	TOPMed
BMP4	P12644	p.Leu234Val	rs1329613424	missense variant	-	NC_000014.9:g.53950559G>C	TOPMed
BMP4	P12644	p.Ile236Leu	rs746179366	missense variant	-	NC_000014.9:g.53950553T>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu237Lys	rs1297626764	missense variant	-	NC_000014.9:g.53950550C>T	TOPMed,gnomAD
BMP4	P12644	p.Val238Met	rs1292637209	missense variant	-	NC_000014.9:g.53950547C>T	gnomAD
BMP4	P12644	p.Leu241Phe	rs1216902223	missense variant	-	NC_000014.9:g.53950538G>A	TOPMed
BMP4	P12644	p.Thr244Ile	rs567804941	missense variant	-	NC_000014.9:g.53950528G>A	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Thr244Asn	rs567804941	missense variant	-	NC_000014.9:g.53950528G>T	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Arg245Gln	rs149883007	missense variant	-	NC_000014.9:g.53950525C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg245Trp	rs769454152	missense variant	-	NC_000014.9:g.53950526G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.His247Asp	rs1217451740	missense variant	-	NC_000014.9:g.53950520G>C	TOPMed
BMP4	P12644	p.His251Tyr	rs200671094	missense variant	-	NC_000014.9:g.53950508G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His251Asn	rs200671094	missense variant	-	NC_000014.9:g.53950508G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His251Tyr	RCV000490360	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950508G>A	ClinVar
BMP4	P12644	p.Ser255Asn	rs1171733069	missense variant	-	NC_000014.9:g.53950495C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg256Gln	rs746984770	missense variant	-	NC_000014.9:g.53950492C>T	ExAC,gnomAD
BMP4	P12644	p.Ser257Pro	rs780091128	missense variant	-	NC_000014.9:g.53950490A>G	ExAC,gnomAD
BMP4	P12644	p.Ser257Leu	rs889958974	missense variant	-	NC_000014.9:g.53950489G>A	TOPMed
BMP4	P12644	p.Pro259His	rs1195073655	missense variant	-	NC_000014.9:g.53950483G>T	gnomAD
BMP4	P12644	p.Pro259Leu	rs1195073655	missense variant	-	NC_000014.9:g.53950483G>A	gnomAD
BMP4	P12644	p.Ser262Asn	rs1312619081	missense variant	-	NC_000014.9:g.53950474C>T	gnomAD
BMP4	P12644	p.Asn264Tyr	rs750213467	missense variant	-	NC_000014.9:g.53950469T>A	ExAC,gnomAD
BMP4	P12644	p.Asn264Ser	rs1252781950	missense variant	-	NC_000014.9:g.53950468T>C	TOPMed,gnomAD
BMP4	P12644	p.Ala266Val	rs898938343	missense variant	-	NC_000014.9:g.53950462G>A	TOPMed
BMP4	P12644	p.Arg269Trp	rs1347000643	missense variant	-	NC_000014.9:g.53950454G>A	TOPMed,gnomAD
BMP4	P12644	p.Arg269Gln	rs534215890	missense variant	-	NC_000014.9:g.53950453C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val273Ile	rs775995114	missense variant	-	NC_000014.9:g.53950442C>T	ExAC,gnomAD
BMP4	P12644	p.Val273Phe	rs775995114	missense variant	-	NC_000014.9:g.53950442C>A	ExAC,gnomAD
BMP4	P12644	p.Val273Leu	rs775995114	missense variant	-	NC_000014.9:g.53950442C>G	ExAC,gnomAD
BMP4	P12644	p.His277Leu	rs767969165	missense variant	-	NC_000014.9:g.53950429T>A	ExAC,gnomAD
BMP4	P12644	p.His277Arg	rs767969165	missense variant	-	NC_000014.9:g.53950429T>C	ExAC,gnomAD
BMP4	P12644	p.Arg280Trp	rs566882530	missense variant	-	NC_000014.9:g.53950421G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg280Gly	rs566882530	missense variant	-	NC_000014.9:g.53950421G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg280Gln	rs776094026	missense variant	-	NC_000014.9:g.53950420C>T	ExAC,gnomAD
BMP4	P12644	p.Ala283Val	rs746478907	missense variant	-	NC_000014.9:g.53950411G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala283Gly	rs746478907	missense variant	-	NC_000014.9:g.53950411G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr285Asn	rs538802825	missense variant	-	NC_000014.9:g.53950405G>T	TOPMed,gnomAD
BMP4	P12644	p.Thr285Ile	rs538802825	missense variant	-	NC_000014.9:g.53950405G>A	TOPMed,gnomAD
BMP4	P12644	p.Arg286Gln	rs550226363	missense variant	-	NC_000014.9:g.53950402C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Leu	rs550226363	missense variant	-	NC_000014.9:g.53950402C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Pro	rs550226363	missense variant	-	NC_000014.9:g.53950402C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Ter	rs1377644626	stop gained	-	NC_000014.9:g.53950403G>A	gnomAD
BMP4	P12644	p.Arg287Leu	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287Gly	rs1435675398	missense variant	-	NC_000014.9:g.53950400G>C	gnomAD
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287Cys	rs1435675398	missense variant	-	NC_000014.9:g.53950400G>A	gnomAD
BMP4	P12644	p.Arg287His	RCV000644620	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950399C>T	ClinVar
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt,dbSNP
BMP4	P12644	p.Arg287His	VAR_058317	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt
BMP4	P12644	p.Arg288Trp	rs756935500	missense variant	-	NC_000014.9:g.53950397G>A	ExAC,gnomAD
BMP4	P12644	p.Arg288Gln	rs370847935	missense variant	-	NC_000014.9:g.53950396C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg289Lys	rs764169451	missense variant	-	NC_000014.9:g.53950393C>T	ExAC,gnomAD
BMP4	P12644	p.Ala290Thr	rs1345812773	missense variant	-	NC_000014.9:g.53950391C>T	gnomAD
BMP4	P12644	p.Lys291Glu	rs756246578	missense variant	-	NC_000014.9:g.53950388T>C	ExAC,gnomAD
BMP4	P12644	p.Arg292Leu	rs768059149	missense variant	-	NC_000014.9:g.53950384C>A	ExAC,gnomAD
BMP4	P12644	p.Arg292Cys	rs1237178811	missense variant	-	NC_000014.9:g.53950385G>A	gnomAD
BMP4	P12644	p.Arg292His	rs768059149	missense variant	-	NC_000014.9:g.53950384C>T	ExAC,gnomAD
BMP4	P12644	p.Ser293Gly	rs760034508	missense variant	-	NC_000014.9:g.53950382T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser293Ile	rs1413929466	missense variant	-	NC_000014.9:g.53950381C>A	gnomAD
BMP4	P12644	p.Pro294Arg	rs774776317	missense variant	-	NC_000014.9:g.53950378G>C	ExAC,gnomAD
BMP4	P12644	p.Ser298Ala	rs763183438	missense variant	-	NC_000014.9:g.53950367A>C	ExAC,gnomAD
BMP4	P12644	p.Arg300Pro	rs915821425	missense variant	-	NC_000014.9:g.53950360C>G	TOPMed,gnomAD
BMP4	P12644	p.Arg300Trp	rs182373336	missense variant	-	NC_000014.9:g.53950361G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg300Trp	RCV000431465	missense variant	-	NC_000014.9:g.53950361G>A	ClinVar
BMP4	P12644	p.Arg300Gln	rs915821425	missense variant	-	NC_000014.9:g.53950360C>T	TOPMed,gnomAD
BMP4	P12644	p.Ala301Val	rs1472412685	missense variant	-	NC_000014.9:g.53950357G>A	gnomAD
BMP4	P12644	p.Ala301Thr	rs568950541	missense variant	-	NC_000014.9:g.53950358C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys304Glu	rs775129155	missense variant	-	NC_000014.9:g.53950349T>C	ExAC,gnomAD
BMP4	P12644	p.Asn305Lys	rs1212973775	missense variant	-	NC_000014.9:g.53950344A>C	gnomAD
BMP4	P12644	p.Asn305Asp	rs1255053325	missense variant	-	NC_000014.9:g.53950346T>C	gnomAD
BMP4	P12644	p.Asn305His	rs1255053325	missense variant	-	NC_000014.9:g.53950346T>G	gnomAD
BMP4	P12644	p.Lys306Asn	rs1442880704	missense variant	-	NC_000014.9:g.53950341C>A	gnomAD
BMP4	P12644	p.Arg309Gln	rs778657318	missense variant	-	NC_000014.9:g.53950333C>T	ExAC,gnomAD
BMP4	P12644	p.Arg309Trp	rs745803587	missense variant	-	NC_000014.9:g.53950334G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg310Cys	rs770777693	missense variant	-	NC_000014.9:g.53950331G>A	ExAC,gnomAD
BMP4	P12644	p.Arg310His	rs1268997444	missense variant	-	NC_000014.9:g.53950330C>T	gnomAD
BMP4	P12644	p.His311Leu	rs748992658	missense variant	-	NC_000014.9:g.53950327T>A	ExAC,gnomAD
BMP4	P12644	p.Ser312Leu	rs778093557	missense variant	-	NC_000014.9:g.53950324G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Tyr314Cys	rs1449428755	missense variant	-	NC_000014.9:g.53950318T>C	gnomAD
BMP4	P12644	p.Ser318Asn	rs1376463051	missense variant	-	NC_000014.9:g.53950306C>T	TOPMed
BMP4	P12644	p.Asp319Asn	rs1225275541	missense variant	-	NC_000014.9:g.53950304C>T	TOPMed
BMP4	P12644	p.Ile326Thr	rs1352713791	missense variant	-	NC_000014.9:g.53950282A>G	TOPMed
BMP4	P12644	p.Val327Met	rs1159448000	missense variant	-	NC_000014.9:g.53950280C>T	gnomAD
BMP4	P12644	p.Ala328Ser	rs1460556403	missense variant	-	NC_000014.9:g.53950277C>A	gnomAD
BMP4	P12644	p.Gly331Arg	rs1214439151	missense variant	-	NC_000014.9:g.53950268C>G	TOPMed
BMP4	P12644	p.Ala334Val	rs550409227	missense variant	-	NC_000014.9:g.53950258G>A	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Ala334Thr	rs1384567460	missense variant	-	NC_000014.9:g.53950259C>T	TOPMed
BMP4	P12644	p.Asp340Asn	rs190987062	missense variant	-	NC_000014.9:g.53950241C>T	1000Genomes
BMP4	P12644	p.Phe343Ser	rs1264875263	missense variant	-	NC_000014.9:g.53950231A>G	gnomAD
BMP4	P12644	p.Ala346Val	rs121912766	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt,dbSNP
BMP4	P12644	p.Ala346Val	VAR_058318	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt
BMP4	P12644	p.Ala346Val	rs121912766	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950222G>A	-
BMP4	P12644	p.Ala346Val	RCV000019276	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	ClinVar
BMP4	P12644	p.Asp347Gly	rs763416550	missense variant	-	NC_000014.9:g.53950219T>C	ExAC,gnomAD
BMP4	P12644	p.His348Tyr	rs1213342000	missense variant	-	NC_000014.9:g.53950217G>A	gnomAD
BMP4	P12644	p.His348Gln	rs199621081	missense variant	-	NC_000014.9:g.53950215G>T	1000Genomes
BMP4	P12644	p.His348Pro	rs763867295	missense variant	-	NC_000014.9:g.53950216T>G	ExAC
BMP4	P12644	p.Asn350Lys	rs1332893471	missense variant	-	NC_000014.9:g.53950209G>C	TOPMed,gnomAD
BMP4	P12644	p.Val357Met	rs1275495197	missense variant	-	NC_000014.9:g.53950190C>T	gnomAD
BMP4	P12644	p.Thr359Ile	rs760397289	missense variant	-	NC_000014.9:g.53950183G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr359Asn	rs760397289	missense variant	-	NC_000014.9:g.53950183G>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn362Ser	rs546306238	missense variant	-	NC_000014.9:g.53950174T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser366Phe	rs1433417350	missense variant	-	NC_000014.9:g.53950162G>A	gnomAD
BMP4	P12644	p.Ser366Ala	rs979032376	missense variant	-	NC_000014.9:g.53950163A>C	TOPMed
BMP4	P12644	p.Ser367Arg	rs150746317	missense variant	-	NC_000014.9:g.53950160T>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser367Thr	rs1320581580	missense variant	-	NC_000014.9:g.53950159C>G	gnomAD
BMP4	P12644	p.Ser367Thr	rs1320581580	missense variant	-	NC_000014.9:g.53950159C>G	UniProt,dbSNP
BMP4	P12644	p.Ser367Thr	VAR_043537	missense variant	-	NC_000014.9:g.53950159C>G	UniProt
BMP4	P12644	p.Ala371Thr	rs1439765696	missense variant	-	NC_000014.9:g.53950148C>T	gnomAD
BMP4	P12644	p.Val374Ala	rs1332872933	missense variant	-	NC_000014.9:g.53950138A>G	TOPMed
BMP4	P12644	p.Leu378Met	rs1166736941	missense variant	-	NC_000014.9:g.53950127G>T	gnomAD
BMP4	P12644	p.Ser379Asn	rs774372624	missense variant	-	NC_000014.9:g.53950123C>T	ExAC,gnomAD
BMP4	P12644	p.Ile381Val	rs1020828966	missense variant	-	NC_000014.9:g.53950118T>C	TOPMed
BMP4	P12644	p.Tyr385Phe	rs1166095129	missense variant	-	NC_000014.9:g.53950105T>A	gnomAD
BMP4	P12644	p.Lys391Glu	rs781343227	missense variant	-	NC_000014.9:g.53950088T>C	ExAC
BMP4	P12644	p.Lys391Arg	rs755080929	missense variant	-	NC_000014.9:g.53950087T>C	ExAC,gnomAD
BMP4	P12644	p.Leu394Pro	rs965380934	missense variant	-	NC_000014.9:g.53950078A>G	TOPMed
BMP4	P12644	p.Tyr397His	rs751566461	missense variant	-	NC_000014.9:g.53950070A>G	ExAC
BMP4	P12644	p.Glu403Gln	rs1237655395	missense variant	-	NC_000014.9:g.53950052C>G	TOPMed
BMP4	P12644	p.Cys407Tyr	rs1271270966	missense variant	-	NC_000014.9:g.53950039C>T	gnomAD
BMP4	P12644	p.Arg408Cys	rs868400180	missense variant	-	NC_000014.9:g.53950037G>A	-
BMP4	P12644	p.Arg408His	rs750868626	missense variant	-	NC_000014.9:g.53950036C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ile2Phe	rs760019960	missense variant	-	NC_000014.9:g.53952219T>A	ExAC,gnomAD
BMP4	P12644	p.Pro3Leu	rs774777993	missense variant	-	NC_000014.9:g.53952215G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn5Ser	rs771302149	missense variant	-	NC_000014.9:g.53952209T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg6Gln	rs377379589	missense variant	-	NC_000014.9:g.53952206C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Met7Ile	rs780741859	missense variant	-	NC_000014.9:g.53952202C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Met9Thr	rs746551997	missense variant	-	NC_000014.9:g.53952197A>G	ExAC,gnomAD
BMP4	P12644	p.Cys14Tyr	rs779603940	missense variant	-	NC_000014.9:g.53952182C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln15His	rs1276201527	missense variant	-	NC_000014.9:g.53952178T>G	TOPMed
BMP4	P12644	p.Gln15Glu	rs1236268255	missense variant	-	NC_000014.9:g.53952180G>C	TOPMed
BMP4	P12644	p.Gly20Ser	RCV000681618	missense variant	Tooth agenesis	NC_000014.9:g.53952165C>T	ClinVar
BMP4	P12644	p.Ala21Gly	rs757138929	missense variant	-	NC_000014.9:g.53952161G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Ser	rs1377054583	missense variant	-	NC_000014.9:g.53952162C>A	TOPMed,gnomAD
BMP4	P12644	p.Ala21Val	rs757138929	missense variant	-	NC_000014.9:g.53952161G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Glu	rs757138929	missense variant	-	NC_000014.9:g.53952161G>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Thr	rs1377054583	missense variant	-	NC_000014.9:g.53952162C>T	TOPMed,gnomAD
BMP4	P12644	p.Ser25Arg	rs756334837	missense variant	-	NC_000014.9:g.53952148A>C	ExAC,gnomAD
BMP4	P12644	p.Ser25Asn	rs1161431139	missense variant	-	NC_000014.9:g.53952149C>T	TOPMed,gnomAD
BMP4	P12644	p.Ile27Met	rs1486737404	missense variant	-	NC_000014.9:g.53952142T>C	TOPMed,gnomAD
BMP4	P12644	p.Ile27Leu	rs1180347739	missense variant	-	NC_000014.9:g.53952144T>G	gnomAD
BMP4	P12644	p.Glu29Gln	rs1258691934	missense variant	-	NC_000014.9:g.53952138C>G	gnomAD
BMP4	P12644	p.Glu29Asp	rs767626507	missense variant	-	NC_000014.9:g.53952136C>G	ExAC,gnomAD
BMP4	P12644	p.Thr30Met	rs565895316	missense variant	-	NC_000014.9:g.53952134G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr30Ala	rs759558138	missense variant	-	NC_000014.9:g.53952135T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly31Glu	rs928764774	missense variant	-	NC_000014.9:g.53952131C>T	TOPMed
BMP4	P12644	p.Lys32Gln	rs1311306185	missense variant	-	NC_000014.9:g.53952129T>G	gnomAD
BMP4	P12644	p.Ala36Thr	rs774938531	missense variant	-	NC_000014.9:g.53952117C>T	ExAC
BMP4	P12644	p.Ala36Ser	rs774938531	missense variant	-	NC_000014.9:g.53952117C>A	ExAC
BMP4	P12644	p.Glu37Asp	rs150187403	missense variant	-	NC_000014.9:g.53952112C>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu37Gly	rs779024090	missense variant	-	NC_000014.9:g.53952113T>C	ExAC,gnomAD
BMP4	P12644	p.Gly40Ser	rs749083527	missense variant	-	NC_000014.9:g.53952105C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly40Asp	rs777606324	missense variant	-	NC_000014.9:g.53952104C>T	ExAC,gnomAD
BMP4	P12644	p.His41Gln	rs756353828	missense variant	-	NC_000014.9:g.53952100G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala42Pro	rs140920120	missense variant	-	NC_000014.9:g.53952099C>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala42Ser	rs140920120	missense variant	-	NC_000014.9:g.53952099C>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly43Glu	rs1476321924	missense variant	-	NC_000014.9:g.53952095C>T	gnomAD
BMP4	P12644	p.Arg46His	rs1418818779	missense variant	-	NC_000014.9:g.53952086C>T	gnomAD
BMP4	P12644	p.His51Gln	rs950786038	missense variant	-	NC_000014.9:g.53952070A>C	gnomAD
BMP4	P12644	p.Leu53Phe	rs1250647011	missense variant	-	NC_000014.9:g.53952066G>A	TOPMed
BMP4	P12644	p.Leu53Pro	rs1264231997	missense variant	-	NC_000014.9:g.53952065A>G	gnomAD
BMP4	P12644	p.Arg55Trp	rs767590018	missense variant	-	NC_000014.9:g.53952060G>A	ExAC,gnomAD
BMP4	P12644	p.Arg55Gln	rs755084602	missense variant	-	NC_000014.9:g.53952059C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg55Leu	rs755084602	missense variant	-	NC_000014.9:g.53952059C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asp56Glu	rs547716844	missense variant	-	NC_000014.9:g.53952055G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Phe57Leu	rs763439953	missense variant	-	NC_000014.9:g.53952052G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu58Gln	rs773516930	missense variant	-	NC_000014.9:g.53952051C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu58Gly	rs765639993	missense variant	-	NC_000014.9:g.53952050T>C	ExAC,gnomAD
BMP4	P12644	p.Ala59Val	rs1297365466	missense variant	-	NC_000014.9:g.53952047G>A	gnomAD
BMP4	P12644	p.Thr60Ser	rs1382742836	missense variant	-	NC_000014.9:g.53952045T>A	gnomAD
BMP4	P12644	p.Gln63His	rs1429432757	missense variant	-	NC_000014.9:g.53952034C>G	TOPMed
BMP4	P12644	p.Met64Val	rs1048864355	missense variant	-	NC_000014.9:g.53952033T>C	TOPMed
BMP4	P12644	p.Gly66Glu	RCV000722884	missense variant	-	NC_000014.9:g.53952026C>T	ClinVar
BMP4	P12644	p.Arg68His	rs1389867082	missense variant	-	NC_000014.9:g.53952020C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg69His	rs1166450278	missense variant	-	NC_000014.9:g.53952017C>T	TOPMed
BMP4	P12644	p.Arg70His	rs775230487	missense variant	-	NC_000014.9:g.53952014C>T	ExAC,gnomAD
BMP4	P12644	p.Arg70Cys	rs1394669206	missense variant	-	NC_000014.9:g.53952015G>A	TOPMed
BMP4	P12644	p.Pro71Gln	rs771808387	missense variant	-	NC_000014.9:g.53952011G>T	ExAC,gnomAD
BMP4	P12644	p.Pro71Arg	rs771808387	missense variant	-	NC_000014.9:g.53952011G>C	ExAC,gnomAD
BMP4	P12644	p.Gln72Arg	RCV000439978	missense variant	-	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000301329	missense variant	Orofacial cleft	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	rs771047931	missense variant	-	NC_000014.9:g.53952008T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln72Arg	RCV000355940	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000341050	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000393894	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Ser74Gly	rs1006741808	missense variant	-	NC_000014.9:g.53952003T>C	TOPMed,gnomAD
BMP4	P12644	p.Lys75Arg	RCV000400269	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	rs777501416	missense variant	-	NC_000014.9:g.53951999T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys75Arg	RCV000438985	missense variant	-	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000286084	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000289710	missense variant	Orofacial cleft	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000344659	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Ser76Arg	rs114957446	missense variant	-	NC_000014.9:g.53951995A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser76Thr	rs1382538211	missense variant	-	NC_000014.9:g.53951996C>G	TOPMed
BMP4	P12644	p.Ala77Val	rs1469412041	missense variant	-	NC_000014.9:g.53951993G>A	gnomAD
BMP4	P12644	p.Pro80Leu	rs1011657927	missense variant	-	NC_000014.9:g.53951984G>A	-
BMP4	P12644	p.Tyr82His	rs1337000514	missense variant	-	NC_000014.9:g.53951979A>G	TOPMed,gnomAD
BMP4	P12644	p.Leu86Ile	rs377676306	missense variant	-	NC_000014.9:g.53951967G>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Tyr87Phe	rs751697119	missense variant	-	NC_000014.9:g.53951963T>A	ExAC,gnomAD
BMP4	P12644	p.Arg88Trp	rs1301153846	missense variant	-	NC_000014.9:g.53951961G>A	TOPMed,gnomAD
BMP4	P12644	p.Leu89Phe	rs200488679	missense variant	-	NC_000014.9:g.53951958G>A	1000Genomes
BMP4	P12644	p.Ser91Cys	RCV000019277	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	ClinVar
BMP4	P12644	p.Ser91Cys	rs121912767	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53951951G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser91Cys	rs121912767	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt,dbSNP
BMP4	P12644	p.Ser91Cys	VAR_043531	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt
BMP4	P12644	p.Glu93Gly	RCV000019275	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951945T>C	ClinVar
BMP4	P12644	p.Glu93Gly	rs121912765	missense variant	-	NC_000014.9:g.53951945T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu93Gly	rs121912765	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt,dbSNP
BMP4	P12644	p.Glu93Gly	VAR_043532	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt
BMP4	P12644	p.Glu95Lys	rs1398877232	missense variant	-	NC_000014.9:g.53951940C>T	gnomAD
BMP4	P12644	p.Glu96Lys	rs1168891139	missense variant	-	NC_000014.9:g.53951937C>T	gnomAD
BMP4	P12644	p.Glu97Asp	rs1426072881	missense variant	-	NC_000014.9:g.53951932C>G	TOPMed
BMP4	P12644	p.Gln98Arg	rs1376487986	missense variant	-	NC_000014.9:g.53951930T>C	gnomAD
BMP4	P12644	p.Ile99Val	rs1417794324	missense variant	-	NC_000014.9:g.53951928T>C	TOPMed
BMP4	P12644	p.Ile99Phe	rs1417794324	missense variant	-	NC_000014.9:g.53951928T>A	TOPMed
BMP4	P12644	p.Ser101Arg	rs1196073983	missense variant	-	NC_000014.9:g.53951920G>T	gnomAD
BMP4	P12644	p.Thr102Ala	RCV000290196	missense variant	-	NC_000014.9:g.53951919T>C	ClinVar
BMP4	P12644	p.Thr102Ala	rs202159001	missense variant	-	NC_000014.9:g.53951919T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr102Ile	rs371239780	missense variant	-	NC_000014.9:g.53951918G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly103Ser	rs1177418822	missense variant	-	NC_000014.9:g.53951916C>T	gnomAD
BMP4	P12644	p.Glu105Lys	rs1322581101	missense variant	-	NC_000014.9:g.53951910C>T	gnomAD
BMP4	P12644	p.Tyr106Cys	rs1344050675	missense variant	-	NC_000014.9:g.53951906T>C	gnomAD
BMP4	P12644	p.Tyr106His	rs1456141352	missense variant	-	NC_000014.9:g.53951907A>G	gnomAD
BMP4	P12644	p.Glu108Gln	rs1454041222	missense variant	-	NC_000014.9:g.53951901C>G	TOPMed
BMP4	P12644	p.Arg109His	rs773235106	missense variant	-	NC_000014.9:g.53951897C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg109Cys	rs1288064472	missense variant	-	NC_000014.9:g.53951898G>A	TOPMed
BMP4	P12644	p.Arg109Pro	rs773235106	missense variant	-	NC_000014.9:g.53951897C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg109Leu	rs773235106	missense variant	-	NC_000014.9:g.53951897C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Pro110Leu	rs991708313	missense variant	-	NC_000014.9:g.53951894G>A	TOPMed,gnomAD
BMP4	P12644	p.Arg113Pro	rs549252141	missense variant	-	NC_000014.9:g.53951885C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg113Gln	rs549252141	missense variant	-	NC_000014.9:g.53951885C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala114Ser	rs747238009	missense variant	-	NC_000014.9:g.53951883C>A	ExAC,gnomAD
BMP4	P12644	p.Thr116Ile	rs750427266	missense variant	-	NC_000014.9:g.53951876G>A	ExAC,gnomAD
BMP4	P12644	p.Thr116Ser	rs750427266	missense variant	-	NC_000014.9:g.53951876G>C	UniProt,dbSNP
BMP4	P12644	p.Thr116Ser	VAR_043533	missense variant	-	NC_000014.9:g.53951876G>C	UniProt
BMP4	P12644	p.Thr116Ser	rs750427266	missense variant	-	NC_000014.9:g.53951876G>C	ExAC,gnomAD
BMP4	P12644	p.Thr116Ala	rs758526357	missense variant	-	NC_000014.9:g.53951877T>C	ExAC,gnomAD
BMP4	P12644	p.Val117Leu	rs527591537	missense variant	-	NC_000014.9:g.53951874C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val117Met	rs527591537	missense variant	-	NC_000014.9:g.53951874C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His121Tyr	rs754308298	missense variant	-	NC_000014.9:g.53951862G>A	ExAC,gnomAD
BMP4	P12644	p.His121Arg	rs376960358	missense variant	-	NC_000014.9:g.53951861T>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His121Tyr	RCV000644619	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951862G>A	ClinVar
BMP4	P12644	p.His121Arg	RCV000022458	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951861T>C	ClinVar
BMP4	P12644	p.His122Arg	rs1185134822	missense variant	-	NC_000014.9:g.53951858T>C	TOPMed
BMP4	P12644	p.Glu123Lys	rs766091993	missense variant	-	NC_000014.9:g.53951856C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu124Lys	rs976229577	missense variant	-	NC_000014.9:g.53951853C>T	TOPMed,gnomAD
BMP4	P12644	p.His125Tyr	rs781409191	missense variant	-	NC_000014.9:g.53950886G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu127Ter	RCV000481644	frameshift	-	NC_000014.9:g.53950869_53950881del	ClinVar
BMP4	P12644	p.Asn128Ser	rs1274761010	missense variant	-	NC_000014.9:g.53950876T>C	TOPMed,gnomAD
BMP4	P12644	p.Pro130Ala	rs1257520804	missense variant	-	NC_000014.9:g.53950871G>C	TOPMed
BMP4	P12644	p.Pro130Leu	rs1439264646	missense variant	-	NC_000014.9:g.53950870G>A	gnomAD
BMP4	P12644	p.Thr132Ala	rs199935719	missense variant	-	NC_000014.9:g.53950865T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr132Ser	rs199935719	missense variant	-	NC_000014.9:g.53950865T>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser133Asn	rs1009117343	missense variant	-	NC_000014.9:g.53950861C>T	TOPMed
BMP4	P12644	p.Asn135Asp	rs750057569	missense variant	-	NC_000014.9:g.53950856T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser136Thr	rs764897002	missense variant	-	NC_000014.9:g.53950853A>T	ExAC,gnomAD
BMP4	P12644	p.Ala137Pro	rs756790824	missense variant	-	NC_000014.9:g.53950850C>G	ExAC,gnomAD
BMP4	P12644	p.Arg139His	rs773804981	missense variant	-	NC_000014.9:g.53950843C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg139Cys	rs753312749	missense variant	-	NC_000014.9:g.53950844G>A	ExAC,gnomAD
BMP4	P12644	p.Phe140Ile	rs1235554786	missense variant	-	NC_000014.9:g.53950841A>T	TOPMed,gnomAD
BMP4	P12644	p.Ser145Thr	rs1050432864	missense variant	-	NC_000014.9:g.53950825C>G	gnomAD
BMP4	P12644	p.Ser145Asn	rs1050432864	missense variant	-	NC_000014.9:g.53950825C>T	gnomAD
BMP4	P12644	p.Pro148Ser	rs760592277	missense variant	-	NC_000014.9:g.53950817G>A	ExAC,gnomAD
BMP4	P12644	p.Asn150Lys	rs767216159	missense variant	-	NC_000014.9:g.53950809G>C	UniProt,dbSNP
BMP4	P12644	p.Asn150Lys	VAR_043534	missense variant	-	NC_000014.9:g.53950809G>C	UniProt
BMP4	P12644	p.Asn150Lys	rs767216159	missense variant	-	NC_000014.9:g.53950809G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn150Lys	RCV000782227	missense variant	-	NC_000014.9:g.53950809G>C	ClinVar
BMP4	P12644	p.Val152Ala	rs17563	missense variant	-	NC_000014.9:g.53950804A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val152Met	rs1207131563	missense variant	-	NC_000014.9:g.53950805C>T	gnomAD
BMP4	P12644	p.Val152Ala	RCV000835434	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
BMP4	P12644	p.Val152Ala	RCV000178157	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
BMP4	P12644	p.Ser154Phe	rs935421961	missense variant	-	NC_000014.9:g.53950798G>A	TOPMed,gnomAD
BMP4	P12644	p.Ala156Gly	rs1305060001	missense variant	-	NC_000014.9:g.53950792G>C	gnomAD
BMP4	P12644	p.Glu157Gly	rs1440968616	missense variant	-	NC_000014.9:g.53950789T>C	gnomAD
BMP4	P12644	p.Arg159Gln	rs777406477	missense variant	-	NC_000014.9:g.53950783C>T	ExAC,gnomAD
BMP4	P12644	p.Arg159Trp	rs774455359	missense variant	-	NC_000014.9:g.53950784G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Phe161Leu	rs749431429	missense variant	-	NC_000014.9:g.53950778A>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg162Gln	rs770493925	missense variant	-	NC_000014.9:g.53950774C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg162Trp	rs773416502	missense variant	-	NC_000014.9:g.53950775G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln164Arg	rs1174412151	missense variant	-	NC_000014.9:g.53950768T>C	gnomAD
BMP4	P12644	p.Asp166Asn	rs372637689	missense variant	-	NC_000014.9:g.53950763C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly168Arg	rs373924774	missense variant	-	NC_000014.9:g.53950757C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly168Ala	VAR_058316	Missense	-	-	UniProt
BMP4	P12644	p.Asp170Glu	rs747360940	missense variant	-	NC_000014.9:g.53950749A>T	ExAC,gnomAD
BMP4	P12644	p.Asp170Val	rs1179170589	missense variant	-	NC_000014.9:g.53950750T>A	gnomAD
BMP4	P12644	p.Trp171Ter	rs1064796998	stop gained	-	NC_000014.9:g.53950747C>T	-
BMP4	P12644	p.Trp171Ter	RCV000485349	nonsense	-	NC_000014.9:g.53950747C>T	ClinVar
BMP4	P12644	p.Glu172Lys	rs200123542	missense variant	-	NC_000014.9:g.53950745C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg173Ser	rs1209155526	missense variant	-	NC_000014.9:g.53950740C>A	gnomAD
BMP4	P12644	p.Gly174Asp	rs1252264079	missense variant	-	NC_000014.9:g.53950738C>T	TOPMed
BMP4	P12644	p.Gly174Ser	rs1486964955	missense variant	-	NC_000014.9:g.53950739C>T	gnomAD
BMP4	P12644	p.His176Arg	rs1281665131	missense variant	-	NC_000014.9:g.53950732T>C	gnomAD
BMP4	P12644	p.His176Gln	rs1233416192	missense variant	-	NC_000014.9:g.53950731G>T	gnomAD
BMP4	P12644	p.Arg177Cys	rs1315829748	missense variant	-	NC_000014.9:g.53950730G>A	gnomAD
BMP4	P12644	p.Arg177His	rs201411996	missense variant	-	NC_000014.9:g.53950729C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn179Ser	rs1177781582	missense variant	-	NC_000014.9:g.53950723T>C	TOPMed
BMP4	P12644	p.Ile180Val	rs1225147273	missense variant	-	NC_000014.9:g.53950721T>C	gnomAD
BMP4	P12644	p.Val183Ile	rs917187711	missense variant	-	NC_000014.9:g.53950712C>T	TOPMed,gnomAD
BMP4	P12644	p.Met184Val	rs777260120	missense variant	-	NC_000014.9:g.53950709T>C	ExAC,gnomAD
BMP4	P12644	p.Met184Thr	rs1377262305	missense variant	-	NC_000014.9:g.53950708A>G	gnomAD
BMP4	P12644	p.Pro186Ser	rs1452882837	missense variant	-	NC_000014.9:g.53950703G>A	gnomAD
BMP4	P12644	p.Pro187Leu	rs755552169	missense variant	-	NC_000014.9:g.53950699G>A	ExAC,gnomAD
BMP4	P12644	p.Ala188Gly	rs752585643	missense variant	-	NC_000014.9:g.53950696G>C	ExAC,gnomAD
BMP4	P12644	p.Ala188Val	rs752585643	missense variant	-	NC_000014.9:g.53950696G>A	ExAC,gnomAD
BMP4	P12644	p.Glu189Val	rs767438166	missense variant	-	NC_000014.9:g.53950693T>A	ExAC,gnomAD
BMP4	P12644	p.Val190Met	rs759277724	missense variant	-	NC_000014.9:g.53950691C>T	ExAC,gnomAD
BMP4	P12644	p.Val191Leu	rs1436341659	missense variant	-	NC_000014.9:g.53950688C>A	TOPMed
BMP4	P12644	p.Pro192Ser	rs1174239631	missense variant	-	NC_000014.9:g.53950685G>A	TOPMed
BMP4	P12644	p.Gly193Val	rs147822607	missense variant	-	NC_000014.9:g.53950681C>A	ESP,ExAC,gnomAD
BMP4	P12644	p.Gly193Glu	rs147822607	missense variant	-	NC_000014.9:g.53950681C>T	ESP,ExAC,gnomAD
BMP4	P12644	p.His194Tyr	rs1258588645	missense variant	-	NC_000014.9:g.53950679G>A	gnomAD
BMP4	P12644	p.Thr197Ile	rs766768360	missense variant	-	NC_000014.9:g.53950669G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg198Gln	rs773506129	missense variant	-	NC_000014.9:g.53950666C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg198Ter	rs387906597	stop gained	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>A	ExAC,gnomAD
BMP4	P12644	p.Arg198Gly	rs387906597	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>C	ExAC,gnomAD
BMP4	P12644	p.Arg198Ter	RCV000022455	nonsense	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950667G>A	ClinVar
BMP4	P12644	p.Arg198Ter	RCV000022456	nonsense	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950667G>A	ClinVar
BMP4	P12644	p.Asp201Ala	rs1217271620	missense variant	-	NC_000014.9:g.53950657T>G	gnomAD
BMP4	P12644	p.Thr202Met	rs770008356	missense variant	-	NC_000014.9:g.53950654G>A	ExAC,gnomAD
BMP4	P12644	p.Val205Ala	RCV000681619	missense variant	Tooth agenesis	NC_000014.9:g.53950645A>G	ClinVar
BMP4	P12644	p.His207Asp	rs1357135828	missense variant	-	NC_000014.9:g.53950640G>C	gnomAD
BMP4	P12644	p.His207Asn	rs1357135828	missense variant	-	NC_000014.9:g.53950640G>T	gnomAD
BMP4	P12644	p.His207Gln	rs769176364	missense variant	-	NC_000014.9:g.53950638G>T	ExAC,gnomAD
BMP4	P12644	p.Asn208Ser	rs556725634	missense variant	-	NC_000014.9:g.53950636T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn208His	rs747381784	missense variant	-	NC_000014.9:g.53950637T>G	ExAC,gnomAD
BMP4	P12644	p.Arg211Gln	rs777345984	missense variant	-	NC_000014.9:g.53950627C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg211Trp	rs748940819	missense variant	-	NC_000014.9:g.53950628G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Phe215Leu	rs1369424398	missense variant	-	NC_000014.9:g.53950616A>G	TOPMed,gnomAD
BMP4	P12644	p.Ala220Val	rs752209771	missense variant	-	NC_000014.9:g.53950600G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223Cys	rs373023560	missense variant	-	NC_000014.9:g.53950592G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223Gly	rs373023560	missense variant	-	NC_000014.9:g.53950592G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223His	rs766285160	missense variant	-	NC_000014.9:g.53950591C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Trp224Cys	rs369481900	missense variant	-	NC_000014.9:g.53950587C>A	ESP,ExAC,gnomAD
BMP4	P12644	p.Thr225Ile	rs1464966808	missense variant	-	NC_000014.9:g.53950585G>A	gnomAD
BMP4	P12644	p.Thr225Ala	rs144556455	missense variant	-	NC_000014.9:g.53950586T>C	UniProt,dbSNP
BMP4	P12644	p.Thr225Ala	VAR_043535	missense variant	-	NC_000014.9:g.53950586T>C	UniProt
BMP4	P12644	p.Thr225Ala	rs144556455	missense variant	-	NC_000014.9:g.53950586T>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr225Ser	rs144556455	missense variant	-	NC_000014.9:g.53950586T>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	RCV000594335	missense variant	-	NC_000014.9:g.53950583G>A	ClinVar
BMP4	P12644	p.Arg226Trp	rs140590144	missense variant	-	NC_000014.9:g.53950583G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Gln	rs538330477	missense variant	-	NC_000014.9:g.53950582C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	rs140590144	missense variant	-	NC_000014.9:g.53950583G>A	UniProt,dbSNP
BMP4	P12644	p.Arg226Trp	VAR_043536	missense variant	-	NC_000014.9:g.53950583G>A	UniProt
BMP4	P12644	p.Arg226Gly	rs140590144	missense variant	-	NC_000014.9:g.53950583G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys228Arg	rs1355254921	missense variant	-	NC_000014.9:g.53950576T>C	TOPMed
BMP4	P12644	p.Pro230Arg	rs775908956	missense variant	-	NC_000014.9:g.53950570G>C	ExAC,gnomAD
BMP4	P12644	p.Tyr232Asp	rs1019914230	missense variant	-	NC_000014.9:g.53950565A>C	TOPMed
BMP4	P12644	p.Leu234Val	rs1329613424	missense variant	-	NC_000014.9:g.53950559G>C	TOPMed
BMP4	P12644	p.Ile236Leu	rs746179366	missense variant	-	NC_000014.9:g.53950553T>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu237Lys	rs1297626764	missense variant	-	NC_000014.9:g.53950550C>T	TOPMed,gnomAD
BMP4	P12644	p.Val238Met	rs1292637209	missense variant	-	NC_000014.9:g.53950547C>T	gnomAD
BMP4	P12644	p.Leu241Phe	rs1216902223	missense variant	-	NC_000014.9:g.53950538G>A	TOPMed
BMP4	P12644	p.Thr244Ile	rs567804941	missense variant	-	NC_000014.9:g.53950528G>A	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Thr244Asn	rs567804941	missense variant	-	NC_000014.9:g.53950528G>T	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Arg245Trp	rs769454152	missense variant	-	NC_000014.9:g.53950526G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg245Gln	rs149883007	missense variant	-	NC_000014.9:g.53950525C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His247Asp	rs1217451740	missense variant	-	NC_000014.9:g.53950520G>C	TOPMed
BMP4	P12644	p.His251Asn	rs200671094	missense variant	-	NC_000014.9:g.53950508G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His251Tyr	rs200671094	missense variant	-	NC_000014.9:g.53950508G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His251Tyr	RCV000490360	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950508G>A	ClinVar
BMP4	P12644	p.Ser255Asn	rs1171733069	missense variant	-	NC_000014.9:g.53950495C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg256Gln	rs746984770	missense variant	-	NC_000014.9:g.53950492C>T	ExAC,gnomAD
BMP4	P12644	p.Ser257Pro	rs780091128	missense variant	-	NC_000014.9:g.53950490A>G	ExAC,gnomAD
BMP4	P12644	p.Ser257Leu	rs889958974	missense variant	-	NC_000014.9:g.53950489G>A	TOPMed
BMP4	P12644	p.Pro259Leu	rs1195073655	missense variant	-	NC_000014.9:g.53950483G>A	gnomAD
BMP4	P12644	p.Pro259His	rs1195073655	missense variant	-	NC_000014.9:g.53950483G>T	gnomAD
BMP4	P12644	p.Ser262Asn	rs1312619081	missense variant	-	NC_000014.9:g.53950474C>T	gnomAD
BMP4	P12644	p.Asn264Tyr	rs750213467	missense variant	-	NC_000014.9:g.53950469T>A	ExAC,gnomAD
BMP4	P12644	p.Asn264Ser	rs1252781950	missense variant	-	NC_000014.9:g.53950468T>C	TOPMed,gnomAD
BMP4	P12644	p.Ala266Val	rs898938343	missense variant	-	NC_000014.9:g.53950462G>A	TOPMed
BMP4	P12644	p.Arg269Gln	rs534215890	missense variant	-	NC_000014.9:g.53950453C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg269Trp	rs1347000643	missense variant	-	NC_000014.9:g.53950454G>A	TOPMed,gnomAD
BMP4	P12644	p.Val273Phe	rs775995114	missense variant	-	NC_000014.9:g.53950442C>A	ExAC,gnomAD
BMP4	P12644	p.Val273Ile	rs775995114	missense variant	-	NC_000014.9:g.53950442C>T	ExAC,gnomAD
BMP4	P12644	p.Val273Leu	rs775995114	missense variant	-	NC_000014.9:g.53950442C>G	ExAC,gnomAD
BMP4	P12644	p.His277Arg	rs767969165	missense variant	-	NC_000014.9:g.53950429T>C	ExAC,gnomAD
BMP4	P12644	p.His277Leu	rs767969165	missense variant	-	NC_000014.9:g.53950429T>A	ExAC,gnomAD
BMP4	P12644	p.Arg280Trp	rs566882530	missense variant	-	NC_000014.9:g.53950421G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg280Gly	rs566882530	missense variant	-	NC_000014.9:g.53950421G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg280Gln	rs776094026	missense variant	-	NC_000014.9:g.53950420C>T	ExAC,gnomAD
BMP4	P12644	p.Ala283Gly	rs746478907	missense variant	-	NC_000014.9:g.53950411G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala283Val	rs746478907	missense variant	-	NC_000014.9:g.53950411G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr285Ile	rs538802825	missense variant	-	NC_000014.9:g.53950405G>A	TOPMed,gnomAD
BMP4	P12644	p.Thr285Asn	rs538802825	missense variant	-	NC_000014.9:g.53950405G>T	TOPMed,gnomAD
BMP4	P12644	p.Arg286Gln	rs550226363	missense variant	-	NC_000014.9:g.53950402C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Leu	rs550226363	missense variant	-	NC_000014.9:g.53950402C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Pro	rs550226363	missense variant	-	NC_000014.9:g.53950402C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Ter	rs1377644626	stop gained	-	NC_000014.9:g.53950403G>A	gnomAD
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt,dbSNP
BMP4	P12644	p.Arg287His	VAR_058317	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt
BMP4	P12644	p.Arg287His	RCV000644620	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950399C>T	ClinVar
BMP4	P12644	p.Arg287Gly	rs1435675398	missense variant	-	NC_000014.9:g.53950400G>C	gnomAD
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287Leu	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287Cys	rs1435675398	missense variant	-	NC_000014.9:g.53950400G>A	gnomAD
BMP4	P12644	p.Arg288Trp	rs756935500	missense variant	-	NC_000014.9:g.53950397G>A	ExAC,gnomAD
BMP4	P12644	p.Arg288Gln	rs370847935	missense variant	-	NC_000014.9:g.53950396C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg289Lys	rs764169451	missense variant	-	NC_000014.9:g.53950393C>T	ExAC,gnomAD
BMP4	P12644	p.Ala290Thr	rs1345812773	missense variant	-	NC_000014.9:g.53950391C>T	gnomAD
BMP4	P12644	p.Lys291Glu	rs756246578	missense variant	-	NC_000014.9:g.53950388T>C	ExAC,gnomAD
BMP4	P12644	p.Arg292His	rs768059149	missense variant	-	NC_000014.9:g.53950384C>T	ExAC,gnomAD
BMP4	P12644	p.Arg292Leu	rs768059149	missense variant	-	NC_000014.9:g.53950384C>A	ExAC,gnomAD
BMP4	P12644	p.Arg292Cys	rs1237178811	missense variant	-	NC_000014.9:g.53950385G>A	gnomAD
BMP4	P12644	p.Ser293Gly	rs760034508	missense variant	-	NC_000014.9:g.53950382T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser293Ile	rs1413929466	missense variant	-	NC_000014.9:g.53950381C>A	gnomAD
BMP4	P12644	p.Pro294Arg	rs774776317	missense variant	-	NC_000014.9:g.53950378G>C	ExAC,gnomAD
BMP4	P12644	p.Ser298Ala	rs763183438	missense variant	-	NC_000014.9:g.53950367A>C	ExAC,gnomAD
BMP4	P12644	p.Arg300Gln	rs915821425	missense variant	-	NC_000014.9:g.53950360C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg300Pro	rs915821425	missense variant	-	NC_000014.9:g.53950360C>G	TOPMed,gnomAD
BMP4	P12644	p.Arg300Trp	rs182373336	missense variant	-	NC_000014.9:g.53950361G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg300Trp	RCV000431465	missense variant	-	NC_000014.9:g.53950361G>A	ClinVar
BMP4	P12644	p.Ala301Val	rs1472412685	missense variant	-	NC_000014.9:g.53950357G>A	gnomAD
BMP4	P12644	p.Ala301Thr	rs568950541	missense variant	-	NC_000014.9:g.53950358C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys304Glu	rs775129155	missense variant	-	NC_000014.9:g.53950349T>C	ExAC,gnomAD
BMP4	P12644	p.Asn305Asp	rs1255053325	missense variant	-	NC_000014.9:g.53950346T>C	gnomAD
BMP4	P12644	p.Asn305Lys	rs1212973775	missense variant	-	NC_000014.9:g.53950344A>C	gnomAD
BMP4	P12644	p.Asn305His	rs1255053325	missense variant	-	NC_000014.9:g.53950346T>G	gnomAD
BMP4	P12644	p.Lys306Asn	rs1442880704	missense variant	-	NC_000014.9:g.53950341C>A	gnomAD
BMP4	P12644	p.Arg309Gln	rs778657318	missense variant	-	NC_000014.9:g.53950333C>T	ExAC,gnomAD
BMP4	P12644	p.Arg309Trp	rs745803587	missense variant	-	NC_000014.9:g.53950334G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg310His	rs1268997444	missense variant	-	NC_000014.9:g.53950330C>T	gnomAD
BMP4	P12644	p.Arg310Cys	rs770777693	missense variant	-	NC_000014.9:g.53950331G>A	ExAC,gnomAD
BMP4	P12644	p.His311Leu	rs748992658	missense variant	-	NC_000014.9:g.53950327T>A	ExAC,gnomAD
BMP4	P12644	p.Ser312Leu	rs778093557	missense variant	-	NC_000014.9:g.53950324G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Tyr314Cys	rs1449428755	missense variant	-	NC_000014.9:g.53950318T>C	gnomAD
BMP4	P12644	p.Ser318Asn	rs1376463051	missense variant	-	NC_000014.9:g.53950306C>T	TOPMed
BMP4	P12644	p.Asp319Asn	rs1225275541	missense variant	-	NC_000014.9:g.53950304C>T	TOPMed
BMP4	P12644	p.Ile326Thr	rs1352713791	missense variant	-	NC_000014.9:g.53950282A>G	TOPMed
BMP4	P12644	p.Val327Met	rs1159448000	missense variant	-	NC_000014.9:g.53950280C>T	gnomAD
BMP4	P12644	p.Ala328Ser	rs1460556403	missense variant	-	NC_000014.9:g.53950277C>A	gnomAD
BMP4	P12644	p.Gly331Arg	rs1214439151	missense variant	-	NC_000014.9:g.53950268C>G	TOPMed
BMP4	P12644	p.Ala334Thr	rs1384567460	missense variant	-	NC_000014.9:g.53950259C>T	TOPMed
BMP4	P12644	p.Ala334Val	rs550409227	missense variant	-	NC_000014.9:g.53950258G>A	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Asp340Asn	rs190987062	missense variant	-	NC_000014.9:g.53950241C>T	1000Genomes
BMP4	P12644	p.Phe343Ser	rs1264875263	missense variant	-	NC_000014.9:g.53950231A>G	gnomAD
BMP4	P12644	p.Ala346Val	rs121912766	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt,dbSNP
BMP4	P12644	p.Ala346Val	VAR_058318	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt
BMP4	P12644	p.Ala346Val	rs121912766	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950222G>A	-
BMP4	P12644	p.Ala346Val	RCV000019276	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	ClinVar
BMP4	P12644	p.Asp347Gly	rs763416550	missense variant	-	NC_000014.9:g.53950219T>C	ExAC,gnomAD
BMP4	P12644	p.His348Pro	rs763867295	missense variant	-	NC_000014.9:g.53950216T>G	ExAC
BMP4	P12644	p.His348Tyr	rs1213342000	missense variant	-	NC_000014.9:g.53950217G>A	gnomAD
BMP4	P12644	p.His348Gln	rs199621081	missense variant	-	NC_000014.9:g.53950215G>T	1000Genomes
BMP4	P12644	p.Asn350Lys	rs1332893471	missense variant	-	NC_000014.9:g.53950209G>C	TOPMed,gnomAD
BMP4	P12644	p.Val357Met	rs1275495197	missense variant	-	NC_000014.9:g.53950190C>T	gnomAD
BMP4	P12644	p.Thr359Ile	rs760397289	missense variant	-	NC_000014.9:g.53950183G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr359Asn	rs760397289	missense variant	-	NC_000014.9:g.53950183G>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn362Ser	rs546306238	missense variant	-	NC_000014.9:g.53950174T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser366Phe	rs1433417350	missense variant	-	NC_000014.9:g.53950162G>A	gnomAD
BMP4	P12644	p.Ser366Ala	rs979032376	missense variant	-	NC_000014.9:g.53950163A>C	TOPMed
BMP4	P12644	p.Ser367Arg	rs150746317	missense variant	-	NC_000014.9:g.53950160T>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser367Thr	rs1320581580	missense variant	-	NC_000014.9:g.53950159C>G	gnomAD
BMP4	P12644	p.Ser367Thr	rs1320581580	missense variant	-	NC_000014.9:g.53950159C>G	UniProt,dbSNP
BMP4	P12644	p.Ser367Thr	VAR_043537	missense variant	-	NC_000014.9:g.53950159C>G	UniProt
BMP4	P12644	p.Ala371Thr	rs1439765696	missense variant	-	NC_000014.9:g.53950148C>T	gnomAD
BMP4	P12644	p.Val374Ala	rs1332872933	missense variant	-	NC_000014.9:g.53950138A>G	TOPMed
BMP4	P12644	p.Leu378Met	rs1166736941	missense variant	-	NC_000014.9:g.53950127G>T	gnomAD
BMP4	P12644	p.Ser379Asn	rs774372624	missense variant	-	NC_000014.9:g.53950123C>T	ExAC,gnomAD
BMP4	P12644	p.Ile381Val	rs1020828966	missense variant	-	NC_000014.9:g.53950118T>C	TOPMed
BMP4	P12644	p.Tyr385Phe	rs1166095129	missense variant	-	NC_000014.9:g.53950105T>A	gnomAD
BMP4	P12644	p.Lys391Glu	rs781343227	missense variant	-	NC_000014.9:g.53950088T>C	ExAC
BMP4	P12644	p.Lys391Arg	rs755080929	missense variant	-	NC_000014.9:g.53950087T>C	ExAC,gnomAD
BMP4	P12644	p.Leu394Pro	rs965380934	missense variant	-	NC_000014.9:g.53950078A>G	TOPMed
BMP4	P12644	p.Tyr397His	rs751566461	missense variant	-	NC_000014.9:g.53950070A>G	ExAC
BMP4	P12644	p.Glu403Gln	rs1237655395	missense variant	-	NC_000014.9:g.53950052C>G	TOPMed
BMP4	P12644	p.Cys407Tyr	rs1271270966	missense variant	-	NC_000014.9:g.53950039C>T	gnomAD
BMP4	P12644	p.Arg408Cys	rs868400180	missense variant	-	NC_000014.9:g.53950037G>A	-
BMP4	P12644	p.Arg408His	rs750868626	missense variant	-	NC_000014.9:g.53950036C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ile2Phe	rs760019960	missense variant	-	NC_000014.9:g.53952219T>A	ExAC,gnomAD
BMP4	P12644	p.Pro3Leu	rs774777993	missense variant	-	NC_000014.9:g.53952215G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn5Ser	rs771302149	missense variant	-	NC_000014.9:g.53952209T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg6Gln	rs377379589	missense variant	-	NC_000014.9:g.53952206C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Met7Ile	rs780741859	missense variant	-	NC_000014.9:g.53952202C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Met9Thr	rs746551997	missense variant	-	NC_000014.9:g.53952197A>G	ExAC,gnomAD
BMP4	P12644	p.Cys14Tyr	rs779603940	missense variant	-	NC_000014.9:g.53952182C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln15His	rs1276201527	missense variant	-	NC_000014.9:g.53952178T>G	TOPMed
BMP4	P12644	p.Gln15Glu	rs1236268255	missense variant	-	NC_000014.9:g.53952180G>C	TOPMed
BMP4	P12644	p.Gly20Ser	RCV000681618	missense variant	Tooth agenesis	NC_000014.9:g.53952165C>T	ClinVar
BMP4	P12644	p.Ala21Thr	rs1377054583	missense variant	-	NC_000014.9:g.53952162C>T	TOPMed,gnomAD
BMP4	P12644	p.Ala21Gly	rs757138929	missense variant	-	NC_000014.9:g.53952161G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Ser	rs1377054583	missense variant	-	NC_000014.9:g.53952162C>A	TOPMed,gnomAD
BMP4	P12644	p.Ala21Val	rs757138929	missense variant	-	NC_000014.9:g.53952161G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala21Glu	rs757138929	missense variant	-	NC_000014.9:g.53952161G>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser25Arg	rs756334837	missense variant	-	NC_000014.9:g.53952148A>C	ExAC,gnomAD
BMP4	P12644	p.Ser25Asn	rs1161431139	missense variant	-	NC_000014.9:g.53952149C>T	TOPMed,gnomAD
BMP4	P12644	p.Ile27Met	rs1486737404	missense variant	-	NC_000014.9:g.53952142T>C	TOPMed,gnomAD
BMP4	P12644	p.Ile27Leu	rs1180347739	missense variant	-	NC_000014.9:g.53952144T>G	gnomAD
BMP4	P12644	p.Glu29Asp	rs767626507	missense variant	-	NC_000014.9:g.53952136C>G	ExAC,gnomAD
BMP4	P12644	p.Glu29Gln	rs1258691934	missense variant	-	NC_000014.9:g.53952138C>G	gnomAD
BMP4	P12644	p.Thr30Ala	rs759558138	missense variant	-	NC_000014.9:g.53952135T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr30Met	rs565895316	missense variant	-	NC_000014.9:g.53952134G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly31Glu	rs928764774	missense variant	-	NC_000014.9:g.53952131C>T	TOPMed
BMP4	P12644	p.Lys32Gln	rs1311306185	missense variant	-	NC_000014.9:g.53952129T>G	gnomAD
BMP4	P12644	p.Ala36Thr	rs774938531	missense variant	-	NC_000014.9:g.53952117C>T	ExAC
BMP4	P12644	p.Ala36Ser	rs774938531	missense variant	-	NC_000014.9:g.53952117C>A	ExAC
BMP4	P12644	p.Glu37Asp	rs150187403	missense variant	-	NC_000014.9:g.53952112C>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu37Gly	rs779024090	missense variant	-	NC_000014.9:g.53952113T>C	ExAC,gnomAD
BMP4	P12644	p.Gly40Ser	rs749083527	missense variant	-	NC_000014.9:g.53952105C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly40Asp	rs777606324	missense variant	-	NC_000014.9:g.53952104C>T	ExAC,gnomAD
BMP4	P12644	p.His41Gln	rs756353828	missense variant	-	NC_000014.9:g.53952100G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala42Ser	rs140920120	missense variant	-	NC_000014.9:g.53952099C>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala42Pro	rs140920120	missense variant	-	NC_000014.9:g.53952099C>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly43Glu	rs1476321924	missense variant	-	NC_000014.9:g.53952095C>T	gnomAD
BMP4	P12644	p.Arg46His	rs1418818779	missense variant	-	NC_000014.9:g.53952086C>T	gnomAD
BMP4	P12644	p.His51Gln	rs950786038	missense variant	-	NC_000014.9:g.53952070A>C	gnomAD
BMP4	P12644	p.Leu53Pro	rs1264231997	missense variant	-	NC_000014.9:g.53952065A>G	gnomAD
BMP4	P12644	p.Leu53Phe	rs1250647011	missense variant	-	NC_000014.9:g.53952066G>A	TOPMed
BMP4	P12644	p.Arg55Leu	rs755084602	missense variant	-	NC_000014.9:g.53952059C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg55Trp	rs767590018	missense variant	-	NC_000014.9:g.53952060G>A	ExAC,gnomAD
BMP4	P12644	p.Arg55Gln	rs755084602	missense variant	-	NC_000014.9:g.53952059C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asp56Glu	rs547716844	missense variant	-	NC_000014.9:g.53952055G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Phe57Leu	rs763439953	missense variant	-	NC_000014.9:g.53952052G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu58Gln	rs773516930	missense variant	-	NC_000014.9:g.53952051C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu58Gly	rs765639993	missense variant	-	NC_000014.9:g.53952050T>C	ExAC,gnomAD
BMP4	P12644	p.Ala59Val	rs1297365466	missense variant	-	NC_000014.9:g.53952047G>A	gnomAD
BMP4	P12644	p.Thr60Ser	rs1382742836	missense variant	-	NC_000014.9:g.53952045T>A	gnomAD
BMP4	P12644	p.Gln63His	rs1429432757	missense variant	-	NC_000014.9:g.53952034C>G	TOPMed
BMP4	P12644	p.Met64Val	rs1048864355	missense variant	-	NC_000014.9:g.53952033T>C	TOPMed
BMP4	P12644	p.Gly66Glu	RCV000722884	missense variant	-	NC_000014.9:g.53952026C>T	ClinVar
BMP4	P12644	p.Arg68His	rs1389867082	missense variant	-	NC_000014.9:g.53952020C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg69His	rs1166450278	missense variant	-	NC_000014.9:g.53952017C>T	TOPMed
BMP4	P12644	p.Arg70Cys	rs1394669206	missense variant	-	NC_000014.9:g.53952015G>A	TOPMed
BMP4	P12644	p.Arg70His	rs775230487	missense variant	-	NC_000014.9:g.53952014C>T	ExAC,gnomAD
BMP4	P12644	p.Pro71Gln	rs771808387	missense variant	-	NC_000014.9:g.53952011G>T	ExAC,gnomAD
BMP4	P12644	p.Pro71Arg	rs771808387	missense variant	-	NC_000014.9:g.53952011G>C	ExAC,gnomAD
BMP4	P12644	p.Gln72Arg	RCV000301329	missense variant	Orofacial cleft	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000439978	missense variant	-	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000355940	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	rs771047931	missense variant	-	NC_000014.9:g.53952008T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln72Arg	RCV000341050	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Gln72Arg	RCV000393894	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53952008T>C	ClinVar
BMP4	P12644	p.Ser74Gly	rs1006741808	missense variant	-	NC_000014.9:g.53952003T>C	TOPMed,gnomAD
BMP4	P12644	p.Lys75Arg	rs777501416	missense variant	-	NC_000014.9:g.53951999T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys75Arg	RCV000400269	missense variant	Syndromic Microphthalmia, Dominant	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000438985	missense variant	-	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000289710	missense variant	Orofacial cleft	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000286084	missense variant	BMP4-Related Syndromic Microphthalmia	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Lys75Arg	RCV000344659	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000014.9:g.53951999T>C	ClinVar
BMP4	P12644	p.Ser76Thr	rs1382538211	missense variant	-	NC_000014.9:g.53951996C>G	TOPMed
BMP4	P12644	p.Ser76Arg	rs114957446	missense variant	-	NC_000014.9:g.53951995A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala77Val	rs1469412041	missense variant	-	NC_000014.9:g.53951993G>A	gnomAD
BMP4	P12644	p.Pro80Leu	rs1011657927	missense variant	-	NC_000014.9:g.53951984G>A	-
BMP4	P12644	p.Tyr82His	rs1337000514	missense variant	-	NC_000014.9:g.53951979A>G	TOPMed,gnomAD
BMP4	P12644	p.Leu86Ile	rs377676306	missense variant	-	NC_000014.9:g.53951967G>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Tyr87Phe	rs751697119	missense variant	-	NC_000014.9:g.53951963T>A	ExAC,gnomAD
BMP4	P12644	p.Arg88Trp	rs1301153846	missense variant	-	NC_000014.9:g.53951961G>A	TOPMed,gnomAD
BMP4	P12644	p.Leu89Phe	rs200488679	missense variant	-	NC_000014.9:g.53951958G>A	1000Genomes
BMP4	P12644	p.Ser91Cys	RCV000019277	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	ClinVar
BMP4	P12644	p.Ser91Cys	rs121912767	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt,dbSNP
BMP4	P12644	p.Ser91Cys	VAR_043531	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53951951G>C	UniProt
BMP4	P12644	p.Ser91Cys	rs121912767	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53951951G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu93Gly	RCV000019275	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951945T>C	ClinVar
BMP4	P12644	p.Glu93Gly	rs121912765	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt,dbSNP
BMP4	P12644	p.Glu93Gly	VAR_043532	missense variant	Microphthalmia, syndromic, 6 (MCOPS6)	NC_000014.9:g.53951945T>C	UniProt
BMP4	P12644	p.Glu93Gly	rs121912765	missense variant	-	NC_000014.9:g.53951945T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu95Lys	rs1398877232	missense variant	-	NC_000014.9:g.53951940C>T	gnomAD
BMP4	P12644	p.Glu96Lys	rs1168891139	missense variant	-	NC_000014.9:g.53951937C>T	gnomAD
BMP4	P12644	p.Glu97Asp	rs1426072881	missense variant	-	NC_000014.9:g.53951932C>G	TOPMed
BMP4	P12644	p.Gln98Arg	rs1376487986	missense variant	-	NC_000014.9:g.53951930T>C	gnomAD
BMP4	P12644	p.Ile99Val	rs1417794324	missense variant	-	NC_000014.9:g.53951928T>C	TOPMed
BMP4	P12644	p.Ile99Phe	rs1417794324	missense variant	-	NC_000014.9:g.53951928T>A	TOPMed
BMP4	P12644	p.Ser101Arg	rs1196073983	missense variant	-	NC_000014.9:g.53951920G>T	gnomAD
BMP4	P12644	p.Thr102Ala	rs202159001	missense variant	-	NC_000014.9:g.53951919T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr102Ala	RCV000290196	missense variant	-	NC_000014.9:g.53951919T>C	ClinVar
BMP4	P12644	p.Thr102Ile	rs371239780	missense variant	-	NC_000014.9:g.53951918G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly103Ser	rs1177418822	missense variant	-	NC_000014.9:g.53951916C>T	gnomAD
BMP4	P12644	p.Glu105Lys	rs1322581101	missense variant	-	NC_000014.9:g.53951910C>T	gnomAD
BMP4	P12644	p.Tyr106His	rs1456141352	missense variant	-	NC_000014.9:g.53951907A>G	gnomAD
BMP4	P12644	p.Tyr106Cys	rs1344050675	missense variant	-	NC_000014.9:g.53951906T>C	gnomAD
BMP4	P12644	p.Glu108Gln	rs1454041222	missense variant	-	NC_000014.9:g.53951901C>G	TOPMed
BMP4	P12644	p.Arg109Pro	rs773235106	missense variant	-	NC_000014.9:g.53951897C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg109His	rs773235106	missense variant	-	NC_000014.9:g.53951897C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg109Cys	rs1288064472	missense variant	-	NC_000014.9:g.53951898G>A	TOPMed
BMP4	P12644	p.Arg109Leu	rs773235106	missense variant	-	NC_000014.9:g.53951897C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Pro110Leu	rs991708313	missense variant	-	NC_000014.9:g.53951894G>A	TOPMed,gnomAD
BMP4	P12644	p.Arg113Gln	rs549252141	missense variant	-	NC_000014.9:g.53951885C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg113Pro	rs549252141	missense variant	-	NC_000014.9:g.53951885C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala114Ser	rs747238009	missense variant	-	NC_000014.9:g.53951883C>A	ExAC,gnomAD
BMP4	P12644	p.Thr116Ile	rs750427266	missense variant	-	NC_000014.9:g.53951876G>A	ExAC,gnomAD
BMP4	P12644	p.Thr116Ser	rs750427266	missense variant	-	NC_000014.9:g.53951876G>C	ExAC,gnomAD
BMP4	P12644	p.Thr116Ser	rs750427266	missense variant	-	NC_000014.9:g.53951876G>C	UniProt,dbSNP
BMP4	P12644	p.Thr116Ser	VAR_043533	missense variant	-	NC_000014.9:g.53951876G>C	UniProt
BMP4	P12644	p.Thr116Ala	rs758526357	missense variant	-	NC_000014.9:g.53951877T>C	ExAC,gnomAD
BMP4	P12644	p.Val117Met	rs527591537	missense variant	-	NC_000014.9:g.53951874C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val117Leu	rs527591537	missense variant	-	NC_000014.9:g.53951874C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His121Arg	rs376960358	missense variant	-	NC_000014.9:g.53951861T>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His121Tyr	rs754308298	missense variant	-	NC_000014.9:g.53951862G>A	ExAC,gnomAD
BMP4	P12644	p.His121Tyr	RCV000644619	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951862G>A	ClinVar
BMP4	P12644	p.His121Arg	RCV000022458	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53951861T>C	ClinVar
BMP4	P12644	p.His122Arg	rs1185134822	missense variant	-	NC_000014.9:g.53951858T>C	TOPMed
BMP4	P12644	p.Glu123Lys	rs766091993	missense variant	-	NC_000014.9:g.53951856C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu124Lys	rs976229577	missense variant	-	NC_000014.9:g.53951853C>T	TOPMed,gnomAD
BMP4	P12644	p.His125Tyr	rs781409191	missense variant	-	NC_000014.9:g.53950886G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu127Ter	RCV000481644	frameshift	-	NC_000014.9:g.53950869_53950881del	ClinVar
BMP4	P12644	p.Asn128Ser	rs1274761010	missense variant	-	NC_000014.9:g.53950876T>C	TOPMed,gnomAD
BMP4	P12644	p.Pro130Leu	rs1439264646	missense variant	-	NC_000014.9:g.53950870G>A	gnomAD
BMP4	P12644	p.Pro130Ala	rs1257520804	missense variant	-	NC_000014.9:g.53950871G>C	TOPMed
BMP4	P12644	p.Thr132Ala	rs199935719	missense variant	-	NC_000014.9:g.53950865T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr132Ser	rs199935719	missense variant	-	NC_000014.9:g.53950865T>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser133Asn	rs1009117343	missense variant	-	NC_000014.9:g.53950861C>T	TOPMed
BMP4	P12644	p.Asn135Asp	rs750057569	missense variant	-	NC_000014.9:g.53950856T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser136Thr	rs764897002	missense variant	-	NC_000014.9:g.53950853A>T	ExAC,gnomAD
BMP4	P12644	p.Ala137Pro	rs756790824	missense variant	-	NC_000014.9:g.53950850C>G	ExAC,gnomAD
BMP4	P12644	p.Arg139His	rs773804981	missense variant	-	NC_000014.9:g.53950843C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg139Cys	rs753312749	missense variant	-	NC_000014.9:g.53950844G>A	ExAC,gnomAD
BMP4	P12644	p.Phe140Ile	rs1235554786	missense variant	-	NC_000014.9:g.53950841A>T	TOPMed,gnomAD
BMP4	P12644	p.Ser145Thr	rs1050432864	missense variant	-	NC_000014.9:g.53950825C>G	gnomAD
BMP4	P12644	p.Ser145Asn	rs1050432864	missense variant	-	NC_000014.9:g.53950825C>T	gnomAD
BMP4	P12644	p.Pro148Ser	rs760592277	missense variant	-	NC_000014.9:g.53950817G>A	ExAC,gnomAD
BMP4	P12644	p.Asn150Lys	rs767216159	missense variant	-	NC_000014.9:g.53950809G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn150Lys	rs767216159	missense variant	-	NC_000014.9:g.53950809G>C	UniProt,dbSNP
BMP4	P12644	p.Asn150Lys	VAR_043534	missense variant	-	NC_000014.9:g.53950809G>C	UniProt
BMP4	P12644	p.Asn150Lys	RCV000782227	missense variant	-	NC_000014.9:g.53950809G>C	ClinVar
BMP4	P12644	p.Val152Ala	rs17563	missense variant	-	NC_000014.9:g.53950804A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Val152Ala	RCV000178157	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
BMP4	P12644	p.Val152Ala	RCV000835434	missense variant	-	NC_000014.9:g.53950804A>G	ClinVar
BMP4	P12644	p.Val152Met	rs1207131563	missense variant	-	NC_000014.9:g.53950805C>T	gnomAD
BMP4	P12644	p.Ser154Phe	rs935421961	missense variant	-	NC_000014.9:g.53950798G>A	TOPMed,gnomAD
BMP4	P12644	p.Ala156Gly	rs1305060001	missense variant	-	NC_000014.9:g.53950792G>C	gnomAD
BMP4	P12644	p.Glu157Gly	rs1440968616	missense variant	-	NC_000014.9:g.53950789T>C	gnomAD
BMP4	P12644	p.Arg159Trp	rs774455359	missense variant	-	NC_000014.9:g.53950784G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg159Gln	rs777406477	missense variant	-	NC_000014.9:g.53950783C>T	ExAC,gnomAD
BMP4	P12644	p.Phe161Leu	rs749431429	missense variant	-	NC_000014.9:g.53950778A>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg162Trp	rs773416502	missense variant	-	NC_000014.9:g.53950775G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg162Gln	rs770493925	missense variant	-	NC_000014.9:g.53950774C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gln164Arg	rs1174412151	missense variant	-	NC_000014.9:g.53950768T>C	gnomAD
BMP4	P12644	p.Asp166Asn	rs372637689	missense variant	-	NC_000014.9:g.53950763C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly168Arg	rs373924774	missense variant	-	NC_000014.9:g.53950757C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Gly168Ala	VAR_058316	Missense	-	-	UniProt
BMP4	P12644	p.Asp170Glu	rs747360940	missense variant	-	NC_000014.9:g.53950749A>T	ExAC,gnomAD
BMP4	P12644	p.Asp170Val	rs1179170589	missense variant	-	NC_000014.9:g.53950750T>A	gnomAD
BMP4	P12644	p.Trp171Ter	rs1064796998	stop gained	-	NC_000014.9:g.53950747C>T	-
BMP4	P12644	p.Trp171Ter	RCV000485349	nonsense	-	NC_000014.9:g.53950747C>T	ClinVar
BMP4	P12644	p.Glu172Lys	rs200123542	missense variant	-	NC_000014.9:g.53950745C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg173Ser	rs1209155526	missense variant	-	NC_000014.9:g.53950740C>A	gnomAD
BMP4	P12644	p.Gly174Asp	rs1252264079	missense variant	-	NC_000014.9:g.53950738C>T	TOPMed
BMP4	P12644	p.Gly174Ser	rs1486964955	missense variant	-	NC_000014.9:g.53950739C>T	gnomAD
BMP4	P12644	p.His176Gln	rs1233416192	missense variant	-	NC_000014.9:g.53950731G>T	gnomAD
BMP4	P12644	p.His176Arg	rs1281665131	missense variant	-	NC_000014.9:g.53950732T>C	gnomAD
BMP4	P12644	p.Arg177Cys	rs1315829748	missense variant	-	NC_000014.9:g.53950730G>A	gnomAD
BMP4	P12644	p.Arg177His	rs201411996	missense variant	-	NC_000014.9:g.53950729C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn179Ser	rs1177781582	missense variant	-	NC_000014.9:g.53950723T>C	TOPMed
BMP4	P12644	p.Ile180Val	rs1225147273	missense variant	-	NC_000014.9:g.53950721T>C	gnomAD
BMP4	P12644	p.Val183Ile	rs917187711	missense variant	-	NC_000014.9:g.53950712C>T	TOPMed,gnomAD
BMP4	P12644	p.Met184Val	rs777260120	missense variant	-	NC_000014.9:g.53950709T>C	ExAC,gnomAD
BMP4	P12644	p.Met184Thr	rs1377262305	missense variant	-	NC_000014.9:g.53950708A>G	gnomAD
BMP4	P12644	p.Pro186Ser	rs1452882837	missense variant	-	NC_000014.9:g.53950703G>A	gnomAD
BMP4	P12644	p.Pro187Leu	rs755552169	missense variant	-	NC_000014.9:g.53950699G>A	ExAC,gnomAD
BMP4	P12644	p.Ala188Gly	rs752585643	missense variant	-	NC_000014.9:g.53950696G>C	ExAC,gnomAD
BMP4	P12644	p.Ala188Val	rs752585643	missense variant	-	NC_000014.9:g.53950696G>A	ExAC,gnomAD
BMP4	P12644	p.Glu189Val	rs767438166	missense variant	-	NC_000014.9:g.53950693T>A	ExAC,gnomAD
BMP4	P12644	p.Val190Met	rs759277724	missense variant	-	NC_000014.9:g.53950691C>T	ExAC,gnomAD
BMP4	P12644	p.Val191Leu	rs1436341659	missense variant	-	NC_000014.9:g.53950688C>A	TOPMed
BMP4	P12644	p.Pro192Ser	rs1174239631	missense variant	-	NC_000014.9:g.53950685G>A	TOPMed
BMP4	P12644	p.Gly193Val	rs147822607	missense variant	-	NC_000014.9:g.53950681C>A	ESP,ExAC,gnomAD
BMP4	P12644	p.Gly193Glu	rs147822607	missense variant	-	NC_000014.9:g.53950681C>T	ESP,ExAC,gnomAD
BMP4	P12644	p.His194Tyr	rs1258588645	missense variant	-	NC_000014.9:g.53950679G>A	gnomAD
BMP4	P12644	p.Thr197Ile	rs766768360	missense variant	-	NC_000014.9:g.53950669G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg198Ter	RCV000022456	nonsense	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950667G>A	ClinVar
BMP4	P12644	p.Arg198Ter	RCV000022455	nonsense	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950667G>A	ClinVar
BMP4	P12644	p.Arg198Ter	rs387906597	stop gained	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>A	ExAC,gnomAD
BMP4	P12644	p.Arg198Gln	rs773506129	missense variant	-	NC_000014.9:g.53950666C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg198Gly	rs387906597	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950667G>C	ExAC,gnomAD
BMP4	P12644	p.Asp201Ala	rs1217271620	missense variant	-	NC_000014.9:g.53950657T>G	gnomAD
BMP4	P12644	p.Thr202Met	rs770008356	missense variant	-	NC_000014.9:g.53950654G>A	ExAC,gnomAD
BMP4	P12644	p.Val205Ala	RCV000681619	missense variant	Tooth agenesis	NC_000014.9:g.53950645A>G	ClinVar
BMP4	P12644	p.His207Gln	rs769176364	missense variant	-	NC_000014.9:g.53950638G>T	ExAC,gnomAD
BMP4	P12644	p.His207Asn	rs1357135828	missense variant	-	NC_000014.9:g.53950640G>T	gnomAD
BMP4	P12644	p.His207Asp	rs1357135828	missense variant	-	NC_000014.9:g.53950640G>C	gnomAD
BMP4	P12644	p.Asn208His	rs747381784	missense variant	-	NC_000014.9:g.53950637T>G	ExAC,gnomAD
BMP4	P12644	p.Asn208Ser	rs556725634	missense variant	-	NC_000014.9:g.53950636T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg211Gln	rs777345984	missense variant	-	NC_000014.9:g.53950627C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg211Trp	rs748940819	missense variant	-	NC_000014.9:g.53950628G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Phe215Leu	rs1369424398	missense variant	-	NC_000014.9:g.53950616A>G	TOPMed,gnomAD
BMP4	P12644	p.Ala220Val	rs752209771	missense variant	-	NC_000014.9:g.53950600G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223Cys	rs373023560	missense variant	-	NC_000014.9:g.53950592G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223Gly	rs373023560	missense variant	-	NC_000014.9:g.53950592G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg223His	rs766285160	missense variant	-	NC_000014.9:g.53950591C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Trp224Cys	rs369481900	missense variant	-	NC_000014.9:g.53950587C>A	ESP,ExAC,gnomAD
BMP4	P12644	p.Thr225Ser	rs144556455	missense variant	-	NC_000014.9:g.53950586T>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr225Ile	rs1464966808	missense variant	-	NC_000014.9:g.53950585G>A	gnomAD
BMP4	P12644	p.Thr225Ala	rs144556455	missense variant	-	NC_000014.9:g.53950586T>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr225Ala	rs144556455	missense variant	-	NC_000014.9:g.53950586T>C	UniProt,dbSNP
BMP4	P12644	p.Thr225Ala	VAR_043535	missense variant	-	NC_000014.9:g.53950586T>C	UniProt
BMP4	P12644	p.Arg226Gln	rs538330477	missense variant	-	NC_000014.9:g.53950582C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	rs140590144	missense variant	-	NC_000014.9:g.53950583G>A	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg226Trp	rs140590144	missense variant	-	NC_000014.9:g.53950583G>A	UniProt,dbSNP
BMP4	P12644	p.Arg226Trp	VAR_043536	missense variant	-	NC_000014.9:g.53950583G>A	UniProt
BMP4	P12644	p.Arg226Trp	RCV000594335	missense variant	-	NC_000014.9:g.53950583G>A	ClinVar
BMP4	P12644	p.Arg226Gly	rs140590144	missense variant	-	NC_000014.9:g.53950583G>C	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys228Arg	rs1355254921	missense variant	-	NC_000014.9:g.53950576T>C	TOPMed
BMP4	P12644	p.Pro230Arg	rs775908956	missense variant	-	NC_000014.9:g.53950570G>C	ExAC,gnomAD
BMP4	P12644	p.Tyr232Asp	rs1019914230	missense variant	-	NC_000014.9:g.53950565A>C	TOPMed
BMP4	P12644	p.Leu234Val	rs1329613424	missense variant	-	NC_000014.9:g.53950559G>C	TOPMed
BMP4	P12644	p.Ile236Leu	rs746179366	missense variant	-	NC_000014.9:g.53950553T>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Glu237Lys	rs1297626764	missense variant	-	NC_000014.9:g.53950550C>T	TOPMed,gnomAD
BMP4	P12644	p.Val238Met	rs1292637209	missense variant	-	NC_000014.9:g.53950547C>T	gnomAD
BMP4	P12644	p.Leu241Phe	rs1216902223	missense variant	-	NC_000014.9:g.53950538G>A	TOPMed
BMP4	P12644	p.Thr244Ile	rs567804941	missense variant	-	NC_000014.9:g.53950528G>A	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Thr244Asn	rs567804941	missense variant	-	NC_000014.9:g.53950528G>T	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Arg245Trp	rs769454152	missense variant	-	NC_000014.9:g.53950526G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg245Gln	rs149883007	missense variant	-	NC_000014.9:g.53950525C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His247Asp	rs1217451740	missense variant	-	NC_000014.9:g.53950520G>C	TOPMed
BMP4	P12644	p.His251Asn	rs200671094	missense variant	-	NC_000014.9:g.53950508G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His251Tyr	rs200671094	missense variant	-	NC_000014.9:g.53950508G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.His251Tyr	RCV000490360	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950508G>A	ClinVar
BMP4	P12644	p.Ser255Asn	rs1171733069	missense variant	-	NC_000014.9:g.53950495C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg256Gln	rs746984770	missense variant	-	NC_000014.9:g.53950492C>T	ExAC,gnomAD
BMP4	P12644	p.Ser257Pro	rs780091128	missense variant	-	NC_000014.9:g.53950490A>G	ExAC,gnomAD
BMP4	P12644	p.Ser257Leu	rs889958974	missense variant	-	NC_000014.9:g.53950489G>A	TOPMed
BMP4	P12644	p.Pro259Leu	rs1195073655	missense variant	-	NC_000014.9:g.53950483G>A	gnomAD
BMP4	P12644	p.Pro259His	rs1195073655	missense variant	-	NC_000014.9:g.53950483G>T	gnomAD
BMP4	P12644	p.Ser262Asn	rs1312619081	missense variant	-	NC_000014.9:g.53950474C>T	gnomAD
BMP4	P12644	p.Asn264Tyr	rs750213467	missense variant	-	NC_000014.9:g.53950469T>A	ExAC,gnomAD
BMP4	P12644	p.Asn264Ser	rs1252781950	missense variant	-	NC_000014.9:g.53950468T>C	TOPMed,gnomAD
BMP4	P12644	p.Ala266Val	rs898938343	missense variant	-	NC_000014.9:g.53950462G>A	TOPMed
BMP4	P12644	p.Arg269Gln	rs534215890	missense variant	-	NC_000014.9:g.53950453C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg269Trp	rs1347000643	missense variant	-	NC_000014.9:g.53950454G>A	TOPMed,gnomAD
BMP4	P12644	p.Val273Ile	rs775995114	missense variant	-	NC_000014.9:g.53950442C>T	ExAC,gnomAD
BMP4	P12644	p.Val273Phe	rs775995114	missense variant	-	NC_000014.9:g.53950442C>A	ExAC,gnomAD
BMP4	P12644	p.Val273Leu	rs775995114	missense variant	-	NC_000014.9:g.53950442C>G	ExAC,gnomAD
BMP4	P12644	p.His277Arg	rs767969165	missense variant	-	NC_000014.9:g.53950429T>C	ExAC,gnomAD
BMP4	P12644	p.His277Leu	rs767969165	missense variant	-	NC_000014.9:g.53950429T>A	ExAC,gnomAD
BMP4	P12644	p.Arg280Trp	rs566882530	missense variant	-	NC_000014.9:g.53950421G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg280Gly	rs566882530	missense variant	-	NC_000014.9:g.53950421G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg280Gln	rs776094026	missense variant	-	NC_000014.9:g.53950420C>T	ExAC,gnomAD
BMP4	P12644	p.Ala283Val	rs746478907	missense variant	-	NC_000014.9:g.53950411G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ala283Gly	rs746478907	missense variant	-	NC_000014.9:g.53950411G>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr285Ile	rs538802825	missense variant	-	NC_000014.9:g.53950405G>A	TOPMed,gnomAD
BMP4	P12644	p.Thr285Asn	rs538802825	missense variant	-	NC_000014.9:g.53950405G>T	TOPMed,gnomAD
BMP4	P12644	p.Arg286Gln	rs550226363	missense variant	-	NC_000014.9:g.53950402C>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Leu	rs550226363	missense variant	-	NC_000014.9:g.53950402C>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Pro	rs550226363	missense variant	-	NC_000014.9:g.53950402C>G	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg286Ter	rs1377644626	stop gained	-	NC_000014.9:g.53950403G>A	gnomAD
BMP4	P12644	p.Arg287Leu	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287Gly	rs1435675398	missense variant	-	NC_000014.9:g.53950400G>C	gnomAD
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt,dbSNP
BMP4	P12644	p.Arg287His	VAR_058317	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950399C>T	UniProt
BMP4	P12644	p.Arg287His	rs121912768	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg287His	RCV000644620	missense variant	Microphthalmia syndromic 6 (MCOPS6)	NC_000014.9:g.53950399C>T	ClinVar
BMP4	P12644	p.Arg287Cys	rs1435675398	missense variant	-	NC_000014.9:g.53950400G>A	gnomAD
BMP4	P12644	p.Arg288Trp	rs756935500	missense variant	-	NC_000014.9:g.53950397G>A	ExAC,gnomAD
BMP4	P12644	p.Arg288Gln	rs370847935	missense variant	-	NC_000014.9:g.53950396C>T	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg289Lys	rs764169451	missense variant	-	NC_000014.9:g.53950393C>T	ExAC,gnomAD
BMP4	P12644	p.Ala290Thr	rs1345812773	missense variant	-	NC_000014.9:g.53950391C>T	gnomAD
BMP4	P12644	p.Lys291Glu	rs756246578	missense variant	-	NC_000014.9:g.53950388T>C	ExAC,gnomAD
BMP4	P12644	p.Arg292His	rs768059149	missense variant	-	NC_000014.9:g.53950384C>T	ExAC,gnomAD
BMP4	P12644	p.Arg292Leu	rs768059149	missense variant	-	NC_000014.9:g.53950384C>A	ExAC,gnomAD
BMP4	P12644	p.Arg292Cys	rs1237178811	missense variant	-	NC_000014.9:g.53950385G>A	gnomAD
BMP4	P12644	p.Ser293Gly	rs760034508	missense variant	-	NC_000014.9:g.53950382T>C	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser293Ile	rs1413929466	missense variant	-	NC_000014.9:g.53950381C>A	gnomAD
BMP4	P12644	p.Pro294Arg	rs774776317	missense variant	-	NC_000014.9:g.53950378G>C	ExAC,gnomAD
BMP4	P12644	p.Ser298Ala	rs763183438	missense variant	-	NC_000014.9:g.53950367A>C	ExAC,gnomAD
BMP4	P12644	p.Arg300Trp	rs182373336	missense variant	-	NC_000014.9:g.53950361G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg300Pro	rs915821425	missense variant	-	NC_000014.9:g.53950360C>G	TOPMed,gnomAD
BMP4	P12644	p.Arg300Gln	rs915821425	missense variant	-	NC_000014.9:g.53950360C>T	TOPMed,gnomAD
BMP4	P12644	p.Arg300Trp	RCV000431465	missense variant	-	NC_000014.9:g.53950361G>A	ClinVar
BMP4	P12644	p.Ala301Val	rs1472412685	missense variant	-	NC_000014.9:g.53950357G>A	gnomAD
BMP4	P12644	p.Ala301Thr	rs568950541	missense variant	-	NC_000014.9:g.53950358C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Lys304Glu	rs775129155	missense variant	-	NC_000014.9:g.53950349T>C	ExAC,gnomAD
BMP4	P12644	p.Asn305Asp	rs1255053325	missense variant	-	NC_000014.9:g.53950346T>C	gnomAD
BMP4	P12644	p.Asn305Lys	rs1212973775	missense variant	-	NC_000014.9:g.53950344A>C	gnomAD
BMP4	P12644	p.Asn305His	rs1255053325	missense variant	-	NC_000014.9:g.53950346T>G	gnomAD
BMP4	P12644	p.Lys306Asn	rs1442880704	missense variant	-	NC_000014.9:g.53950341C>A	gnomAD
BMP4	P12644	p.Arg309Gln	rs778657318	missense variant	-	NC_000014.9:g.53950333C>T	ExAC,gnomAD
BMP4	P12644	p.Arg309Trp	rs745803587	missense variant	-	NC_000014.9:g.53950334G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Arg310His	rs1268997444	missense variant	-	NC_000014.9:g.53950330C>T	gnomAD
BMP4	P12644	p.Arg310Cys	rs770777693	missense variant	-	NC_000014.9:g.53950331G>A	ExAC,gnomAD
BMP4	P12644	p.His311Leu	rs748992658	missense variant	-	NC_000014.9:g.53950327T>A	ExAC,gnomAD
BMP4	P12644	p.Ser312Leu	rs778093557	missense variant	-	NC_000014.9:g.53950324G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Tyr314Cys	rs1449428755	missense variant	-	NC_000014.9:g.53950318T>C	gnomAD
BMP4	P12644	p.Ser318Asn	rs1376463051	missense variant	-	NC_000014.9:g.53950306C>T	TOPMed
BMP4	P12644	p.Asp319Asn	rs1225275541	missense variant	-	NC_000014.9:g.53950304C>T	TOPMed
BMP4	P12644	p.Ile326Thr	rs1352713791	missense variant	-	NC_000014.9:g.53950282A>G	TOPMed
BMP4	P12644	p.Val327Met	rs1159448000	missense variant	-	NC_000014.9:g.53950280C>T	gnomAD
BMP4	P12644	p.Ala328Ser	rs1460556403	missense variant	-	NC_000014.9:g.53950277C>A	gnomAD
BMP4	P12644	p.Gly331Arg	rs1214439151	missense variant	-	NC_000014.9:g.53950268C>G	TOPMed
BMP4	P12644	p.Ala334Val	rs550409227	missense variant	-	NC_000014.9:g.53950258G>A	1000Genomes,ExAC,gnomAD
BMP4	P12644	p.Ala334Thr	rs1384567460	missense variant	-	NC_000014.9:g.53950259C>T	TOPMed
BMP4	P12644	p.Asp340Asn	rs190987062	missense variant	-	NC_000014.9:g.53950241C>T	1000Genomes
BMP4	P12644	p.Phe343Ser	rs1264875263	missense variant	-	NC_000014.9:g.53950231A>G	gnomAD
BMP4	P12644	p.Ala346Val	rs121912766	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt,dbSNP
BMP4	P12644	p.Ala346Val	VAR_058318	missense variant	Non-syndromic orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	UniProt
BMP4	P12644	p.Ala346Val	rs121912766	missense variant	Orofacial cleft 11 (ofc11)	NC_000014.9:g.53950222G>A	-
BMP4	P12644	p.Ala346Val	RCV000019276	missense variant	Orofacial cleft 11 (OFC11)	NC_000014.9:g.53950222G>A	ClinVar
BMP4	P12644	p.Asp347Gly	rs763416550	missense variant	-	NC_000014.9:g.53950219T>C	ExAC,gnomAD
BMP4	P12644	p.His348Gln	rs199621081	missense variant	-	NC_000014.9:g.53950215G>T	1000Genomes
BMP4	P12644	p.His348Tyr	rs1213342000	missense variant	-	NC_000014.9:g.53950217G>A	gnomAD
BMP4	P12644	p.His348Pro	rs763867295	missense variant	-	NC_000014.9:g.53950216T>G	ExAC
BMP4	P12644	p.Asn350Lys	rs1332893471	missense variant	-	NC_000014.9:g.53950209G>C	TOPMed,gnomAD
BMP4	P12644	p.Val357Met	rs1275495197	missense variant	-	NC_000014.9:g.53950190C>T	gnomAD
BMP4	P12644	p.Thr359Asn	rs760397289	missense variant	-	NC_000014.9:g.53950183G>T	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Thr359Ile	rs760397289	missense variant	-	NC_000014.9:g.53950183G>A	ExAC,TOPMed,gnomAD
BMP4	P12644	p.Asn362Ser	rs546306238	missense variant	-	NC_000014.9:g.53950174T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser366Phe	rs1433417350	missense variant	-	NC_000014.9:g.53950162G>A	gnomAD
BMP4	P12644	p.Ser366Ala	rs979032376	missense variant	-	NC_000014.9:g.53950163A>C	TOPMed
BMP4	P12644	p.Ser367Arg	rs150746317	missense variant	-	NC_000014.9:g.53950160T>G	ESP,ExAC,TOPMed,gnomAD
BMP4	P12644	p.Ser367Thr	rs1320581580	missense variant	-	NC_000014.9:g.53950159C>G	gnomAD
BMP4	P12644	p.Ser367Thr	rs1320581580	missense variant	-	NC_000014.9:g.53950159C>G	UniProt,dbSNP
BMP4	P12644	p.Ser367Thr	VAR_043537	missense variant	-	NC_000014.9:g.53950159C>G	UniProt
BMP4	P12644	p.Ala371Thr	rs1439765696	missense variant	-	NC_000014.9:g.53950148C>T	gnomAD
BMP4	P12644	p.Val374Ala	rs1332872933	missense variant	-	NC_000014.9:g.53950138A>G	TOPMed
BMP4	P12644	p.Leu378Met	rs1166736941	missense variant	-	NC_000014.9:g.53950127G>T	gnomAD
BMP4	P12644	p.Ser379Asn	rs774372624	missense variant	-	NC_000014.9:g.53950123C>T	ExAC,gnomAD
BMP4	P12644	p.Ile381Val	rs1020828966	missense variant	-	NC_000014.9:g.53950118T>C	TOPMed
BMP4	P12644	p.Tyr385Phe	rs1166095129	missense variant	-	NC_000014.9:g.53950105T>A	gnomAD
BMP4	P12644	p.Lys391Glu	rs781343227	missense variant	-	NC_000014.9:g.53950088T>C	ExAC
BMP4	P12644	p.Lys391Arg	rs755080929	missense variant	-	NC_000014.9:g.53950087T>C	ExAC,gnomAD
BMP4	P12644	p.Leu394Pro	rs965380934	missense variant	-	NC_000014.9:g.53950078A>G	TOPMed
BMP4	P12644	p.Tyr397His	rs751566461	missense variant	-	NC_000014.9:g.53950070A>G	ExAC
BMP4	P12644	p.Glu403Gln	rs1237655395	missense variant	-	NC_000014.9:g.53950052C>G	TOPMed
BMP4	P12644	p.Cys407Tyr	rs1271270966	missense variant	-	NC_000014.9:g.53950039C>T	gnomAD
BMP4	P12644	p.Arg408Cys	rs868400180	missense variant	-	NC_000014.9:g.53950037G>A	-
BMP4	P12644	p.Arg408His	rs750868626	missense variant	-	NC_000014.9:g.53950036C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Met1Ile	RCV000230267	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737418G>A	ClinVar
CDH1	P12830	p.Met1Ile	RCV000570172	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68737418G>A	ClinVar
CDH1	P12830	p.Met1Arg	RCV000639275	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737417T>G	ClinVar
CDH1	P12830	p.Met1Thr	RCV000566678	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68737417T>C	ClinVar
CDH1	P12830	p.Met1Thr	RCV000639234	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737417T>C	ClinVar
CDH1	P12830	p.Met1Val	RCV000639240	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737416A>G	ClinVar
CDH1	P12830	p.Met1Ile	RCV000759733	missense variant	-	NC_000016.10:g.68737418G>A	ClinVar
CDH1	P12830	p.Gly2Ser	RCV000163100	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68737419G>A	ClinVar
CDH1	P12830	p.Gly2Ser	RCV000484462	missense variant	-	NC_000016.10:g.68737419G>A	ClinVar
CDH1	P12830	p.Gly2Ser	rs786201212	missense variant	-	NC_000016.10:g.68737419G>A	gnomAD
CDH1	P12830	p.Gly2Ser	RCV000458853	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737419G>A	ClinVar
CDH1	P12830	p.Gly2Asp	RCV000777434	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68737420G>A	ClinVar
CDH1	P12830	p.Gly2Val	RCV000231609	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737420G>T	ClinVar
CDH1	P12830	p.Gly2Val	rs878854692	missense variant	-	NC_000016.10:g.68737420G>T	gnomAD
CDH1	P12830	p.Pro3His	rs587782484	missense variant	-	NC_000016.10:g.68737423C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Pro3Ser	RCV000485012	missense variant	-	NC_000016.10:g.68737422C>T	ClinVar
CDH1	P12830	p.Pro3Arg	RCV000212345	missense variant	-	NC_000016.10:g.68737423C>G	ClinVar
CDH1	P12830	p.Pro3Thr	RCV000773783	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68737422C>A	ClinVar
CDH1	P12830	p.Pro3Ser	rs1064793079	missense variant	-	NC_000016.10:g.68737422C>T	-
CDH1	P12830	p.Pro3Ser	RCV000817256	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737422C>T	ClinVar
CDH1	P12830	p.Pro3Arg	rs587782484	missense variant	-	NC_000016.10:g.68737423C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Trp4Ter	RCV000662736	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737427G>A	ClinVar
CDH1	P12830	p.Trp4Ter	rs1555509636	stop gained	-	NC_000016.10:g.68737427G>A	-
CDH1	P12830	p.Ser5Gly	RCV000559657	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737428A>G	ClinVar
CDH1	P12830	p.Ser5Arg	rs786201287	missense variant	-	NC_000016.10:g.68737430C>G	TOPMed,gnomAD
CDH1	P12830	p.Ser5Gly	rs1555509637	missense variant	-	NC_000016.10:g.68737428A>G	-
CDH1	P12830	p.Arg6His	rs746464544	missense variant	-	NC_000016.10:g.68737432G>A	ExAC,gnomAD
CDH1	P12830	p.Arg6Leu	rs746464544	missense variant	-	NC_000016.10:g.68737432G>T	ExAC,gnomAD
CDH1	P12830	p.Ser7Gly	rs1303550652	missense variant	-	NC_000016.10:g.68737434A>G	gnomAD
CDH1	P12830	p.Ser7Thr	rs1310934198	missense variant	-	NC_000016.10:g.68737435G>C	gnomAD
CDH1	P12830	p.LeuSer8LeuPro	rs587778169	missense variant	-	NC_000016.10:g.68737439_68737440delinsGC	-
CDH1	P12830	p.Leu8Val	rs1234138761	missense variant	-	NC_000016.10:g.68737437C>G	gnomAD
CDH1	P12830	p.Ser9Ala	RCV000639268	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737440T>G	ClinVar
CDH1	P12830	p.Ser9Leu	RCV000802433	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737441C>T	ClinVar
CDH1	P12830	p.Ser9Leu	rs1555509646	missense variant	-	NC_000016.10:g.68737441C>T	-
CDH1	P12830	p.Ser9Leu	RCV000561107	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68737441C>T	ClinVar
CDH1	P12830	p.Ser9Pro	RCV000120496	missense variant	-	NC_000016.10:g.68737439_68737440delinsGC	ClinVar
CDH1	P12830	p.Ser9Ala	rs1555509645	missense variant	-	NC_000016.10:g.68737440T>G	-
CDH1	P12830	p.Ala10Val	RCV000639226	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737444C>T	ClinVar
CDH1	P12830	p.Ala10Glu	RCV000732057	missense variant	-	NC_000016.10:g.68737444C>A	ClinVar
CDH1	P12830	p.Ala10Glu	rs1375360857	missense variant	-	NC_000016.10:g.68737444C>A	TOPMed
CDH1	P12830	p.Ala10Thr	rs1053572488	missense variant	-	NC_000016.10:g.68737443G>A	TOPMed,gnomAD
CDH1	P12830	p.Ala10Glu	RCV000709391	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737444C>A	ClinVar
CDH1	P12830	p.Ala10Val	rs1375360857	missense variant	-	NC_000016.10:g.68737444C>T	TOPMed
CDH1	P12830	p.Leu11Arg	RCV000709392	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737447T>G	ClinVar
CDH1	P12830	p.Leu11Arg	rs1393903966	missense variant	-	NC_000016.10:g.68737447T>G	TOPMed
CDH1	P12830	p.Leu12Pro	rs1191249318	missense variant	-	NC_000016.10:g.68737450T>C	gnomAD
CDH1	P12830	p.Leu14Met	rs1192852993	missense variant	-	NC_000016.10:g.68737455C>A	gnomAD
CDH1	P12830	p.Leu15Gln	rs370614162	missense variant	-	NC_000016.10:g.68737459T>A	ESP,TOPMed,gnomAD
CDH1	P12830	p.Gln16Leu	RCV000772459	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68737462A>T	ClinVar
CDH1	P12830	p.Gln16His	RCV000475151	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68737463G>T	ClinVar
CDH1	P12830	p.Gln16Ter	rs770244203	stop gained	-	NC_000016.10:g.68737461C>T	ExAC,gnomAD
CDH1	P12830	p.Gln16Arg	rs775705607	missense variant	-	NC_000016.10:g.68737462A>G	ExAC,gnomAD
CDH1	P12830	p.Gln16His	rs749591910	missense variant	-	NC_000016.10:g.68737463G>T	ExAC,gnomAD
CDH1	P12830	p.Gln16Pro	rs775705607	missense variant	-	NC_000016.10:g.68737462A>C	ExAC,gnomAD
CDH1	P12830	p.Gln16Lys	rs770244203	missense variant	-	NC_000016.10:g.68737461C>A	ExAC,gnomAD
CDH1	P12830	p.Val17Phe	rs780470521	missense variant	-	NC_000016.10:g.68738297G>T	ExAC,gnomAD
CDH1	P12830	p.Val17Leu	RCV000456580	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738297G>C	ClinVar
CDH1	P12830	p.Val17Leu	rs780470521	missense variant	-	NC_000016.10:g.68738297G>C	ExAC,gnomAD
CDH1	P12830	p.Ser19Ala	RCV000465064	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738303T>G	ClinVar
CDH1	P12830	p.Ser19Cys	RCV000574640	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738304C>G	ClinVar
CDH1	P12830	p.Ser19Phe	rs1221633501	missense variant	-	NC_000016.10:g.68738304C>T	TOPMed,gnomAD
CDH1	P12830	p.Ser19Ala	rs1042391377	missense variant	-	NC_000016.10:g.68738303T>G	gnomAD
CDH1	P12830	p.Ser19Tyr	rs1221633501	missense variant	-	NC_000016.10:g.68738304C>A	TOPMed,gnomAD
CDH1	P12830	p.Ser19Cys	rs1221633501	missense variant	-	NC_000016.10:g.68738304C>G	TOPMed,gnomAD
CDH1	P12830	p.Ser19ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68738300_68738301insCA	NCI-TCGA
CDH1	P12830	p.Ser19ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68738300_68738301insCAAGA	NCI-TCGA
CDH1	P12830	p.Trp20Ter	RCV000013026	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738307G>A	ClinVar
CDH1	P12830	p.Trp20Ter	rs121964875	stop gained	-	NC_000016.10:g.68738307G>A	-
CDH1	P12830	p.Trp20Ter	rs786203576	stop gained	-	NC_000016.10:g.68738308G>A	-
CDH1	P12830	p.Trp20Ter	RCV000166954	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738308G>A	ClinVar
CDH1	P12830	p.Leu21Ile	RCV000639276	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738309C>A	ClinVar
CDH1	P12830	p.Leu21Phe	RCV000199237	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738309C>T	ClinVar
CDH1	P12830	p.Leu21Ile	RCV000213718	missense variant	-	NC_000016.10:g.68738309C>A	ClinVar
CDH1	P12830	p.Leu21Val	rs863224729	missense variant	-	NC_000016.10:g.68738309C>G	TOPMed,gnomAD
CDH1	P12830	p.Leu21Phe	rs863224729	missense variant	-	NC_000016.10:g.68738309C>T	TOPMed,gnomAD
CDH1	P12830	p.Leu21Val	RCV000456561	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738309C>G	ClinVar
CDH1	P12830	p.Leu21Val	RCV000222019	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738309C>G	ClinVar
CDH1	P12830	p.Leu21Pro	RCV000486805	missense variant	-	NC_000016.10:g.68738310T>C	ClinVar
CDH1	P12830	p.Leu21Ile	rs863224729	missense variant	-	NC_000016.10:g.68738309C>A	TOPMed,gnomAD
CDH1	P12830	p.Leu21Pro	rs1064794920	missense variant	-	NC_000016.10:g.68738310T>C	-
CDH1	P12830	p.Cys22Tyr	RCV000575835	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738313G>A	ClinVar
CDH1	P12830	p.Cys22Ter	rs865838543	stop gained	-	NC_000016.10:g.68738314C>A	gnomAD
CDH1	P12830	p.Cys22Tyr	rs1555509758	missense variant	-	NC_000016.10:g.68738313G>A	-
CDH1	P12830	p.Gln23Ter	COSM19503	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68738315C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Glu24Ter	RCV000013027	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738318G>T	ClinVar
CDH1	P12830	p.Glu24Ter	rs121964876	stop gained	-	NC_000016.10:g.68738318G>T	-
CDH1	P12830	p.Pro25Leu	rs1485238301	missense variant	-	NC_000016.10:g.68738322C>T	gnomAD
CDH1	P12830	p.Glu26Ter	RCV000797095	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738324G>T	ClinVar
CDH1	P12830	p.Glu26Ter	RCV000162463	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738324G>T	ClinVar
CDH1	P12830	p.Glu26Gln	RCV000223374	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738324G>C	ClinVar
CDH1	P12830	p.Glu26Gln	rs786201058	missense variant	-	NC_000016.10:g.68738324G>C	-
CDH1	P12830	p.Glu26Ter	rs786201058	stop gained	-	NC_000016.10:g.68738324G>T	-
CDH1	P12830	p.Glu26Gln	RCV000410130	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738324G>C	ClinVar
CDH1	P12830	p.Pro27Ser	RCV000679582	missense variant	-	NC_000016.10:g.68738327C>T	ClinVar
CDH1	P12830	p.Pro27Ser	RCV000582299	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738327C>T	ClinVar
CDH1	P12830	p.Pro27Ser	RCV000226798	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738327C>T	ClinVar
CDH1	P12830	p.Pro27Ser	rs878854696	missense variant	-	NC_000016.10:g.68738327C>T	-
CDH1	P12830	p.Cys28Ter	rs587780789	stop gained	-	NC_000016.10:g.68738332C>A	TOPMed,gnomAD
CDH1	P12830	p.His29Arg	RCV000772600	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738334A>G	ClinVar
CDH1	P12830	p.His29Arg	RCV000639282	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738334A>G	ClinVar
CDH1	P12830	p.His29Arg	rs1555509761	missense variant	-	NC_000016.10:g.68738334A>G	-
CDH1	P12830	p.His29Tyr	RCV000698861	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738333C>T	ClinVar
CDH1	P12830	p.His29Tyr	rs1254266267	missense variant	-	NC_000016.10:g.68738333C>T	gnomAD
CDH1	P12830	p.Pro30Arg	RCV000214994	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738337C>G	ClinVar
CDH1	P12830	p.Pro30Arg	rs876660408	missense variant	-	NC_000016.10:g.68738337C>G	gnomAD
CDH1	P12830	p.Pro30Thr	RCV000123256	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738336C>A	ClinVar
CDH1	P12830	p.Pro30Thr	rs139866691	missense variant	-	NC_000016.10:g.68738336C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gly31Val	RCV000639264	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738340G>T	ClinVar
CDH1	P12830	p.Gly31Val	rs1131690823	missense variant	-	NC_000016.10:g.68738340G>T	-
CDH1	P12830	p.Gly31Val	RCV000492686	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738340G>T	ClinVar
CDH1	P12830	p.Phe32Leu	rs1382043754	missense variant	-	NC_000016.10:g.68738342T>C	TOPMed
CDH1	P12830	p.Ala34Ser	rs1486768673	missense variant	-	NC_000016.10:g.68738348G>T	gnomAD
CDH1	P12830	p.Ala34Thr	rs1486768673	missense variant	-	NC_000016.10:g.68738348G>A	gnomAD
CDH1	P12830	p.Ala34Ser	RCV000555305	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738348G>T	ClinVar
CDH1	P12830	p.Glu35Asp	RCV000478504	missense variant	-	NC_000016.10:g.68738353G>C	ClinVar
CDH1	P12830	p.Glu35Asp	RCV000691907	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738353G>C	ClinVar
CDH1	P12830	p.Glu35Asp	rs876660131	missense variant	-	NC_000016.10:g.68738353G>C	-
CDH1	P12830	p.Glu35Asp	RCV000562387	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738353G>C	ClinVar
CDH1	P12830	p.Ser36Asn	RCV000479808	missense variant	-	NC_000016.10:g.68738355G>A	ClinVar
CDH1	P12830	p.Ser36AlaPheSerTerUnkUnk	COSM435584	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68738354A>-	NCI-TCGA Cosmic
CDH1	P12830	p.Ser36Gly	RCV000573106	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738354A>G	ClinVar
CDH1	P12830	p.Ser36Gly	rs1555509773	missense variant	-	NC_000016.10:g.68738354A>G	-
CDH1	P12830	p.Ser36Ile	rs1064794682	missense variant	-	NC_000016.10:g.68738355G>T	TOPMed,gnomAD
CDH1	P12830	p.Ser36Asn	rs1064794682	missense variant	-	NC_000016.10:g.68738355G>A	TOPMed,gnomAD
CDH1	P12830	p.Thr38Pro	RCV000579397	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738360A>C	ClinVar
CDH1	P12830	p.Thr38Ala	RCV000166751	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738360A>G	ClinVar
CDH1	P12830	p.Thr38Met	RCV000120507	missense variant	-	NC_000016.10:g.68738361C>T	ClinVar
CDH1	P12830	p.Thr38Lys	RCV000536623	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738361C>A	ClinVar
CDH1	P12830	p.Thr38Ala	rs786203442	missense variant	-	NC_000016.10:g.68738360A>G	gnomAD
CDH1	P12830	p.Thr38Met	rs587778171	missense variant	-	NC_000016.10:g.68738361C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr38Pro	RCV000686759	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738360A>C	ClinVar
CDH1	P12830	p.Thr38Pro	rs786203442	missense variant	-	NC_000016.10:g.68738360A>C	gnomAD
CDH1	P12830	p.Thr38Lys	rs587778171	missense variant	-	NC_000016.10:g.68738361C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr38Lys	RCV000222770	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738361C>A	ClinVar
CDH1	P12830	p.Thr40Ser	RCV000218039	missense variant	-	NC_000016.10:g.68738366A>T	ClinVar
CDH1	P12830	p.Thr40Ser	rs876661278	missense variant	-	NC_000016.10:g.68738366A>T	-
CDH1	P12830	p.Val41Leu	RCV000688401	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738369G>T	ClinVar
CDH1	P12830	p.Val41Met	RCV000165286	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738369G>A	ClinVar
CDH1	P12830	p.Val41Leu	RCV000567291	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738369G>T	ClinVar
CDH1	P12830	p.Val41Met	rs786202465	missense variant	-	NC_000016.10:g.68738369G>A	-
CDH1	P12830	p.Val41Leu	rs786202465	missense variant	-	NC_000016.10:g.68738369G>T	-
CDH1	P12830	p.Pro42Leu	RCV000461065	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738373C>T	ClinVar
CDH1	P12830	p.Pro42Ter	RCV000215517	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738372_68738374delinsT	ClinVar
CDH1	P12830	p.Pro42Leu	RCV000759726	missense variant	-	NC_000016.10:g.68738373C>T	ClinVar
CDH1	P12830	p.Pro42Leu	RCV000214968	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738373C>T	ClinVar
CDH1	P12830	p.Pro42Leu	rs876659333	missense variant	-	NC_000016.10:g.68738373C>T	TOPMed,gnomAD
CDH1	P12830	p.Arg44Leu	RCV000566670	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738379G>T	ClinVar
CDH1	P12830	p.Arg44Leu	rs1375178645	missense variant	-	NC_000016.10:g.68738379G>T	gnomAD
CDH1	P12830	p.Arg44His	rs1375178645	missense variant	-	NC_000016.10:g.68738379G>A	gnomAD
CDH1	P12830	p.Leu46Pro	rs1555509778	missense variant	-	NC_000016.10:g.68738385T>C	-
CDH1	P12830	p.Leu46Pro	RCV000571979	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738385T>C	ClinVar
CDH1	P12830	p.Glu47Asp	rs1308247672	missense variant	-	NC_000016.10:g.68738389G>C	gnomAD
CDH1	P12830	p.Gly49Ser	RCV000473027	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738393G>A	ClinVar
CDH1	P12830	p.Gly49Ser	rs1060501223	missense variant	-	NC_000016.10:g.68738393G>A	gnomAD
CDH1	P12830	p.Gly49Arg	RCV000562899	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738393G>C	ClinVar
CDH1	P12830	p.Gly49Arg	rs1060501223	missense variant	-	NC_000016.10:g.68738393G>C	gnomAD
CDH1	P12830	p.Gly49Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68738393G>T	NCI-TCGA
CDH1	P12830	p.Arg50Ser	RCV000216058	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738396C>A	ClinVar
CDH1	P12830	p.Arg50Ser	rs876659739	missense variant	-	NC_000016.10:g.68738396C>A	-
CDH1	P12830	p.Val51Ile	rs1555509780	missense variant	-	NC_000016.10:g.68738399G>A	-
CDH1	P12830	p.Val51Ile	rs1555509780	missense variant	-	NC_000016.10:g.68738399G>A	NCI-TCGA
CDH1	P12830	p.Val51Ile	RCV000575586	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738399G>A	ClinVar
CDH1	P12830	p.Leu52Val	rs374569322	missense variant	-	NC_000016.10:g.68738402C>G	TOPMed
CDH1	P12830	p.Leu52Gln	rs1367719041	missense variant	-	NC_000016.10:g.68738403T>A	gnomAD
CDH1	P12830	p.Gly53Ala	RCV000222464	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738406G>C	ClinVar
CDH1	P12830	p.Gly53Asp	rs876659692	missense variant	-	NC_000016.10:g.68738406G>A	-
CDH1	P12830	p.Gly53Asp	RCV000580029	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738406G>A	ClinVar
CDH1	P12830	p.Gly53Ala	rs876659692	missense variant	-	NC_000016.10:g.68738406G>C	-
CDH1	P12830	p.Arg54Gly	RCV000474006	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738408A>G	ClinVar
CDH1	P12830	p.Arg54Lys	rs876658680	missense variant	-	NC_000016.10:g.68738409G>A	gnomAD
CDH1	P12830	p.Arg54Lys	RCV000215888	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738409G>A	ClinVar
CDH1	P12830	p.Arg54Gly	rs587781329	missense variant	-	NC_000016.10:g.68738408A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg54Lys	RCV000549869	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68738409G>A	ClinVar
CDH1	P12830	p.Arg54Gly	RCV000212346	missense variant	-	NC_000016.10:g.68738408A>G	ClinVar
CDH1	P12830	p.Arg54Gly	RCV000129074	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68738408A>G	ClinVar
CDH1	P12830	p.Arg54GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68738403_68738404insG	NCI-TCGA
CDH1	P12830	p.Val55Gly	RCV000131233	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801670T>G	ClinVar
CDH1	P12830	p.Val55Ala	RCV000469215	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801670T>C	ClinVar
CDH1	P12830	p.Val55Gly	rs587778174	missense variant	-	NC_000016.10:g.68801670T>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val55Ala	rs587778174	missense variant	-	NC_000016.10:g.68801670T>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn56Asp	rs1060501227	missense variant	-	NC_000016.10:g.68801672A>G	-
CDH1	P12830	p.Asn56Asp	RCV000473205	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801672A>G	ClinVar
CDH1	P12830	p.Glu58Lys	RCV000572545	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801678G>A	ClinVar
CDH1	P12830	p.Glu58Lys	rs1060501234	missense variant	-	NC_000016.10:g.68801678G>A	-
CDH1	P12830	p.Glu58Val	RCV000483154	missense variant	-	NC_000016.10:g.68801679A>T	ClinVar
CDH1	P12830	p.Glu58Val	RCV000471758	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801679A>T	ClinVar
CDH1	P12830	p.Glu58Lys	RCV000460113	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801678G>A	ClinVar
CDH1	P12830	p.Glu58Val	rs786202570	missense variant	-	NC_000016.10:g.68801679A>T	-
CDH1	P12830	p.Glu58Val	RCV000165435	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801679A>T	ClinVar
CDH1	P12830	p.Asp59Glu	RCV000115847	missense variant	-	NC_000016.10:g.68801683T>G	ClinVar
CDH1	P12830	p.Asp59Glu	RCV000234870	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801683T>G	ClinVar
CDH1	P12830	p.Asp59Glu	RCV000411078	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801683T>G	ClinVar
CDH1	P12830	p.Asp59Glu	rs587780116	missense variant	-	NC_000016.10:g.68801683T>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gly62Val	RCV000167156	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801691G>T	ClinVar
CDH1	P12830	p.Gly62Val	RCV000793742	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801691G>T	ClinVar
CDH1	P12830	p.Gly62Ser	RCV000589761	missense variant	-	NC_000016.10:g.68801690G>A	ClinVar
CDH1	P12830	p.Gly62Ser	RCV000130235	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801690G>A	ClinVar
CDH1	P12830	p.Gly62Asp	rs786203727	missense variant	-	NC_000016.10:g.68801691G>A	TOPMed
CDH1	P12830	p.Gly62Val	rs786203727	missense variant	-	NC_000016.10:g.68801691G>T	TOPMed
CDH1	P12830	p.Gly62Ser	rs587781898	missense variant	-	NC_000016.10:g.68801690G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gly62Asp	RCV000557834	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801691G>A	ClinVar
CDH1	P12830	p.Gly62Ser	RCV000232399	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801690G>A	ClinVar
CDH1	P12830	p.Arg63Ter	RCV000563489	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801693C>T	ClinVar
CDH1	P12830	p.Arg63Gln	RCV000679566	missense variant	-	NC_000016.10:g.68801694G>A	ClinVar
CDH1	P12830	p.Arg63Ter	rs587783047	stop gained	-	NC_000016.10:g.68801693C>T	-
CDH1	P12830	p.Arg63Ter	RCV000144590	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801693C>T	ClinVar
CDH1	P12830	p.Arg63Gln	rs587780117	missense variant	-	NC_000016.10:g.68801694G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg63Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68801694G>C	NCI-TCGA
CDH1	P12830	p.Arg65Lys	rs1478145907	missense variant	-	NC_000016.10:g.68801700G>A	TOPMed
CDH1	P12830	p.Ala67Asp	RCV000204809	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801706C>A	ClinVar
CDH1	P12830	p.Ala67Gly	RCV000458777	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801706C>G	ClinVar
CDH1	P12830	p.Ala67Thr	RCV000574938	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801705G>A	ClinVar
CDH1	P12830	p.Ala67Gly	RCV000160381	missense variant	-	NC_000016.10:g.68801706C>G	ClinVar
CDH1	P12830	p.Ala67Thr	rs1060501247	missense variant	-	NC_000016.10:g.68801705G>A	gnomAD
CDH1	P12830	p.Ala67Asp	rs730881660	missense variant	-	NC_000016.10:g.68801706C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala67Asp	RCV000218936	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801706C>A	ClinVar
CDH1	P12830	p.Ala67Thr	RCV000465459	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801705G>A	ClinVar
CDH1	P12830	p.Ala67Gly	rs730881660	missense variant	-	NC_000016.10:g.68801706C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala67Thr	RCV000479101	missense variant	-	NC_000016.10:g.68801705G>A	ClinVar
CDH1	P12830	p.Tyr68Ter	RCV000164820	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801708del	ClinVar
CDH1	P12830	p.Tyr68Ter	RCV000479654	frameshift	-	NC_000016.10:g.68801708del	ClinVar
CDH1	P12830	p.Tyr68Asp	RCV000463675	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801708T>G	ClinVar
CDH1	P12830	p.Tyr68Ter	RCV000685278	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801708del	ClinVar
CDH1	P12830	p.Tyr68Asp	RCV000566254	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801708T>G	ClinVar
CDH1	P12830	p.Tyr68Asp	rs1060501218	missense variant	-	NC_000016.10:g.68801708T>G	-
CDH1	P12830	p.Tyr68Cys	rs1284989530	missense variant	-	NC_000016.10:g.68801709A>G	gnomAD
CDH1	P12830	p.Phe69Val	RCV000774143	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801711T>G	ClinVar
CDH1	P12830	p.Phe69Leu	RCV000581916	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801713T>G	ClinVar
CDH1	P12830	p.Phe69Leu	rs1190318676	missense variant	-	NC_000016.10:g.68801713T>G	TOPMed
CDH1	P12830	p.Ser70Pro	RCV000801913	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801714T>C	ClinVar
CDH1	P12830	p.Ser70Pro	rs587781862	missense variant	-	NC_000016.10:g.68801714T>C	TOPMed
CDH1	P12830	p.Ser70Thr	RCV000204939	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801714T>A	ClinVar
CDH1	P12830	p.Ser70Ter	RCV000657349	frameshift	-	NC_000016.10:g.68801714dup	ClinVar
CDH1	P12830	p.Ser70Ter	RCV000545409	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801714dup	ClinVar
CDH1	P12830	p.Ser70Thr	rs587781862	missense variant	-	NC_000016.10:g.68801714T>A	TOPMed
CDH1	P12830	p.Ser70Pro	RCV000130176	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801714T>C	ClinVar
CDH1	P12830	p.Ser70ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68801710T>-	NCI-TCGA
CDH1	P12830	p.Leu71Ile	RCV000639265	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801717C>A	ClinVar
CDH1	P12830	p.Leu71Phe	COSM704381	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68801717C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Leu71Ile	rs1555514408	missense variant	-	NC_000016.10:g.68801717C>A	-
CDH1	P12830	p.Leu71SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68801715C>-	NCI-TCGA
CDH1	P12830	p.Asp72Asn	RCV000123243	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801720G>A	ClinVar
CDH1	P12830	p.Asp72Asn	RCV000656818	missense variant	-	NC_000016.10:g.68801720G>A	ClinVar
CDH1	P12830	p.Asp72Asn	rs35606263	missense variant	-	NC_000016.10:g.68801720G>A	UniProt,dbSNP
CDH1	P12830	p.Asp72Asn	VAR_048500	missense variant	-	NC_000016.10:g.68801720G>A	UniProt
CDH1	P12830	p.Asp72Asn	rs35606263	missense variant	-	NC_000016.10:g.68801720G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp72His	rs35606263	missense variant	-	NC_000016.10:g.68801720G>C	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr73Asn	RCV000565286	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801724C>A	ClinVar
CDH1	P12830	p.Thr73Ile	RCV000774144	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801724C>T	ClinVar
CDH1	P12830	p.Thr73Asn	RCV000707243	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801724C>A	ClinVar
CDH1	P12830	p.Thr73Asn	rs1555514410	missense variant	-	NC_000016.10:g.68801724C>A	-
CDH1	P12830	p.Arg74Ter	RCV000763384	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801726C>T	ClinVar
CDH1	P12830	p.Arg74Gln	RCV000567326	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801727G>A	ClinVar
CDH1	P12830	p.Arg74Pro	RCV000524812	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801727G>C	ClinVar
CDH1	P12830	p.Arg74Pro	rs761562625	missense variant	-	NC_000016.10:g.68801727G>C	ExAC,gnomAD
CDH1	P12830	p.Arg74Ter	RCV000227616	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801726C>T	ClinVar
CDH1	P12830	p.Arg74Leu	RCV000639229	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801727G>T	ClinVar
CDH1	P12830	p.Arg74Gln	RCV000550917	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801727G>A	ClinVar
CDH1	P12830	p.Arg74Leu	rs761562625	missense variant	-	NC_000016.10:g.68801727G>T	ExAC,gnomAD
CDH1	P12830	p.Arg74Ter	rs876658932	stop gained	-	NC_000016.10:g.68801726C>T	TOPMed
CDH1	P12830	p.Arg74Gln	rs761562625	missense variant	-	NC_000016.10:g.68801727G>A	ExAC,gnomAD
CDH1	P12830	p.Arg74Gly	rs876658932	missense variant	-	NC_000016.10:g.68801726C>G	TOPMed
CDH1	P12830	p.Arg74Ter	RCV000567709	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801726C>T	ClinVar
CDH1	P12830	p.Arg74Gly	RCV000687009	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801726C>G	ClinVar
CDH1	P12830	p.Arg74Gly	RCV000218864	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801726C>G	ClinVar
CDH1	P12830	p.Arg74ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68801723_68801724insC	NCI-TCGA
CDH1	P12830	p.Phe75Leu	RCV000464249	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801731C>G	ClinVar
CDH1	P12830	p.Phe75Cys	RCV000129093	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801730T>G	ClinVar
CDH1	P12830	p.Phe75Leu	RCV000581517	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801731C>A	ClinVar
CDH1	P12830	p.Phe75Cys	rs587781336	missense variant	-	NC_000016.10:g.68801730T>G	-
CDH1	P12830	p.Phe75Leu	rs767019668	missense variant	-	NC_000016.10:g.68801731C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Phe75Leu	rs587782193	missense variant	-	NC_000016.10:g.68801729T>C	gnomAD
CDH1	P12830	p.Phe75Leu	RCV000554536	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801729T>C	ClinVar
CDH1	P12830	p.Phe75Leu	rs767019668	missense variant	-	NC_000016.10:g.68801731C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Lys76Asn	rs1260273251	missense variant	-	NC_000016.10:g.68801734A>C	gnomAD
CDH1	P12830	p.Gly78Asp	RCV000679570	missense variant	-	NC_000016.10:g.68801739G>A	ClinVar
CDH1	P12830	p.Gly78Asp	RCV000230648	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801739G>A	ClinVar
CDH1	P12830	p.Gly78Asp	rs587781404	missense variant	-	NC_000016.10:g.68801739G>A	TOPMed
CDH1	P12830	p.Gly78Ser	rs864622477	missense variant	-	NC_000016.10:g.68801738G>A	-
CDH1	P12830	p.Gly78Ser	RCV000205065	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801738G>A	ClinVar
CDH1	P12830	p.Gly78Asp	RCV000129255	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801739G>A	ClinVar
CDH1	P12830	p.Thr79Arg	RCV000217533	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801742C>G	ClinVar
CDH1	P12830	p.Thr79Arg	rs876658359	missense variant	-	NC_000016.10:g.68801742C>G	-
CDH1	P12830	p.Asp80His	RCV000571275	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801744G>C	ClinVar
CDH1	P12830	p.Asp80His	rs1555514423	missense variant	-	NC_000016.10:g.68801744G>C	-
CDH1	P12830	p.Gly81Ser	RCV000477208	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801747G>A	ClinVar
CDH1	P12830	p.Gly81Ser	rs1060501225	missense variant	-	NC_000016.10:g.68801747G>A	-
CDH1	P12830	p.Val82Met	RCV000639230	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801750G>A	ClinVar
CDH1	P12830	p.Val82Met	RCV000482425	missense variant	-	NC_000016.10:g.68801750G>A	ClinVar
CDH1	P12830	p.Val82Gly	rs942284129	missense variant	-	NC_000016.10:g.68801751T>G	TOPMed
CDH1	P12830	p.Val82Leu	RCV000775708	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801750G>T	ClinVar
CDH1	P12830	p.Val82Met	rs1064793867	missense variant	-	NC_000016.10:g.68801750G>A	gnomAD
CDH1	P12830	p.Thr84Ile	RCV000569606	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801757C>T	ClinVar
CDH1	P12830	p.Thr84Ile	RCV000204522	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801757C>T	ClinVar
CDH1	P12830	p.Thr84Ile	RCV000480914	missense variant	-	NC_000016.10:g.68801757C>T	ClinVar
CDH1	P12830	p.Thr84Ile	rs754388534	missense variant	-	NC_000016.10:g.68801757C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val85Ala	RCV000587445	missense variant	-	NC_000016.10:g.68801760T>C	ClinVar
CDH1	P12830	p.Val85Ile	RCV000565577	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801759G>A	ClinVar
CDH1	P12830	p.Val85Ala	rs878854688	missense variant	-	NC_000016.10:g.68801760T>C	TOPMed
CDH1	P12830	p.Val85Ile	rs1555514427	missense variant	-	NC_000016.10:g.68801759G>A	-
CDH1	P12830	p.Val85Ala	RCV000569815	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801760T>C	ClinVar
CDH1	P12830	p.Val85Ala	RCV000229392	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801760T>C	ClinVar
CDH1	P12830	p.Lys86Arg	rs1160169015	missense variant	-	NC_000016.10:g.68801763A>G	gnomAD
CDH1	P12830	p.Lys86Arg	RCV000584323	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801763A>G	ClinVar
CDH1	P12830	p.Arg87Ser	RCV000227212	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801767G>C	ClinVar
CDH1	P12830	p.Arg87Ser	RCV000574364	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801767G>C	ClinVar
CDH1	P12830	p.Arg87Ter	RCV000532595	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801767del	ClinVar
CDH1	P12830	p.Arg87AlaPheSerTerUnk	COSM5205425	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68801762_68801763AA>-	NCI-TCGA Cosmic
CDH1	P12830	p.Arg87Ser	rs878854689	missense variant	-	NC_000016.10:g.68801767G>C	-
CDH1	P12830	p.Pro88Arg	RCV000799734	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801769C>G	ClinVar
CDH1	P12830	p.Pro88His	COSM1379140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68801769C>A	NCI-TCGA Cosmic
CDH1	P12830	p.Pro88Ser	RCV000463685	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801768C>T	ClinVar
CDH1	P12830	p.Pro88Arg	RCV000565051	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801769C>G	ClinVar
CDH1	P12830	p.Pro88Ser	rs779313390	missense variant	-	NC_000016.10:g.68801768C>T	ExAC,gnomAD
CDH1	P12830	p.Pro88Arg	rs1381409755	missense variant	-	NC_000016.10:g.68801769C>G	TOPMed,gnomAD
CDH1	P12830	p.Pro88Thr	rs779313390	missense variant	-	NC_000016.10:g.68801768C>A	ExAC,gnomAD
CDH1	P12830	p.Pro88Thr	RCV000557751	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801768C>A	ClinVar
CDH1	P12830	p.Arg90Trp	RCV000410067	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801774C>T	ClinVar
CDH1	P12830	p.Arg90Trp	RCV000212347	missense variant	-	NC_000016.10:g.68801774C>T	ClinVar
CDH1	P12830	p.Arg90Trp	RCV000160382	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801774C>T	ClinVar
CDH1	P12830	p.Arg90Pro	rs1555514433	missense variant	-	NC_000016.10:g.68801775_68801776delinsCA	-
CDH1	P12830	p.Arg90Pro	RCV000571292	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801775_68801776delinsCA	ClinVar
CDH1	P12830	p.Arg90Gln	RCV000200245	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801775G>A	ClinVar
CDH1	P12830	p.Arg90Trp	rs730881661	missense variant	-	NC_000016.10:g.68801774C>T	TOPMed,gnomAD
CDH1	P12830	p.Arg90Gln	rs587782647	missense variant	-	NC_000016.10:g.68801775G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg90Gln	RCV000482830	missense variant	-	NC_000016.10:g.68801775G>A	ClinVar
CDH1	P12830	p.His92Gln	RCV000639211	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801782T>G	ClinVar
CDH1	P12830	p.His92Gln	rs770967343	missense variant	-	NC_000016.10:g.68801782T>G	ExAC,gnomAD
CDH1	P12830	p.Pro94Ser	RCV000773200	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801786C>T	ClinVar
CDH1	P12830	p.Pro94Ser	RCV000481538	missense variant	-	NC_000016.10:g.68801786C>T	ClinVar
CDH1	P12830	p.Pro94Arg	RCV000781217	missense variant	-	NC_000016.10:g.68801787C>G	ClinVar
CDH1	P12830	p.Pro94Ser	rs1064793862	missense variant	-	NC_000016.10:g.68801786C>T	-
CDH1	P12830	p.Gln95Ter	RCV000546548	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801789C>T	ClinVar
CDH1	P12830	p.Gln95Ter	rs781409616	stop gained	-	NC_000016.10:g.68801789C>T	ExAC,gnomAD
CDH1	P12830	p.Ile96Phe	rs749306433	missense variant	-	NC_000016.10:g.68801792A>T	ExAC,gnomAD
CDH1	P12830	p.Ile96Val	RCV000205362	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801792A>G	ClinVar
CDH1	P12830	p.Ile96Phe	RCV000165180	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801792A>T	ClinVar
CDH1	P12830	p.Ile96Phe	RCV000473818	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801792A>T	ClinVar
CDH1	P12830	p.Ile96Met	rs768648027	missense variant	-	NC_000016.10:g.68801794C>G	ExAC,gnomAD
CDH1	P12830	p.Ile96Val	rs749306433	missense variant	-	NC_000016.10:g.68801792A>G	ExAC,gnomAD
CDH1	P12830	p.His97Asp	RCV000120510	missense variant	-	NC_000016.10:g.68801795C>G	ClinVar
CDH1	P12830	p.Phe98Tyr	RCV000572193	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801799T>A	ClinVar
CDH1	P12830	p.Phe98Leu	rs1177900932	missense variant	-	NC_000016.10:g.68801800C>A	TOPMed
CDH1	P12830	p.Phe98Tyr	rs1555514451	missense variant	-	NC_000016.10:g.68801799T>A	-
CDH1	P12830	p.Phe98Leu	rs1177900932	missense variant	-	NC_000016.10:g.68801800C>A	NCI-TCGA Cosmic
CDH1	P12830	p.Val100Ile	RCV000775935	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801804G>A	ClinVar
CDH1	P12830	p.Val100Ile	RCV000821233	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801804G>A	ClinVar
CDH1	P12830	p.Val100Ala	RCV000690751	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801805T>C	ClinVar
CDH1	P12830	p.Val100Ala	RCV000572185	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801805T>C	ClinVar
CDH1	P12830	p.Val100Ala	rs1555514454	missense variant	-	NC_000016.10:g.68801805T>C	-
CDH1	P12830	p.Val100Ile	rs1064793437	missense variant	-	NC_000016.10:g.68801804G>A	-
CDH1	P12830	p.Val100Ile	RCV000479592	missense variant	-	NC_000016.10:g.68801804G>A	ClinVar
CDH1	P12830	p.Tyr101His	rs774301557	missense variant	-	NC_000016.10:g.68801807T>C	ExAC,gnomAD
CDH1	P12830	p.Tyr101Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68801808A>G	NCI-TCGA
CDH1	P12830	p.Ala102Val	RCV000165626	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801811C>T	ClinVar
CDH1	P12830	p.Ala102Gly	RCV000583486	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801811C>G	ClinVar
CDH1	P12830	p.Ala102Ser	RCV000479588	missense variant	-	NC_000016.10:g.68801810G>T	ClinVar
CDH1	P12830	p.Ala102Ser	rs368492235	missense variant	-	NC_000016.10:g.68801810G>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala102Ser	RCV000167482	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801810G>T	ClinVar
CDH1	P12830	p.Ala102Ser	RCV000639246	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801810G>T	ClinVar
CDH1	P12830	p.Ala102Thr	RCV000374968	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801810G>A	ClinVar
CDH1	P12830	p.Ala102Thr	RCV000131780	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801810G>A	ClinVar
CDH1	P12830	p.Ala102Thr	rs368492235	missense variant	-	NC_000016.10:g.68801810G>A	NCI-TCGA,NCI-TCGA Cosmic
CDH1	P12830	p.Ala102Gly	rs786202689	missense variant	-	NC_000016.10:g.68801811C>G	gnomAD
CDH1	P12830	p.Ala102Thr	rs368492235	missense variant	-	NC_000016.10:g.68801810G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala102Val	rs786202689	missense variant	-	NC_000016.10:g.68801811C>T	gnomAD
CDH1	P12830	p.Trp103Ter	RCV000567076	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801814G>A	ClinVar
CDH1	P12830	p.Trp103Arg	rs550619440	missense variant	-	NC_000016.10:g.68801813T>A	gnomAD
CDH1	P12830	p.Trp103Ter	RCV000807991	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801814G>A	ClinVar
CDH1	P12830	p.Trp103Ter	rs1555514464	stop gained	-	NC_000016.10:g.68801814G>A	-
CDH1	P12830	p.Asp104Val	rs760351575	missense variant	-	NC_000016.10:g.68801817A>T	ExAC
CDH1	P12830	p.Ser105Thr	RCV000777364	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801819T>A	ClinVar
CDH1	P12830	p.Ser105Thr	RCV000639260	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801819T>A	ClinVar
CDH1	P12830	p.Ser105Thr	rs1165815510	missense variant	-	NC_000016.10:g.68801819T>A	TOPMed
CDH1	P12830	p.Thr106Ala	RCV000115861	missense variant	-	NC_000016.10:g.68801822A>G	ClinVar
CDH1	P12830	p.Thr106Ter	RCV000486371	frameshift	-	NC_000016.10:g.68801821del	ClinVar
CDH1	P12830	p.Thr106Ala	rs587780122	missense variant	-	NC_000016.10:g.68801822A>G	-
CDH1	P12830	p.Tyr107Cys	RCV000575896	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801826A>G	ClinVar
CDH1	P12830	p.Tyr107Cys	RCV000468950	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801826A>G	ClinVar
CDH1	P12830	p.Tyr107Cys	rs1060501241	missense variant	-	NC_000016.10:g.68801826A>G	-
CDH1	P12830	p.Arg108Gly	RCV000120509	missense variant	-	NC_000016.10:g.68801828A>G	ClinVar
CDH1	P12830	p.Arg108Gly	rs587778172	missense variant	-	NC_000016.10:g.68801828A>G	ExAC,gnomAD
CDH1	P12830	p.Arg108HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68801827_68801837CAGAAAGTTTT>-	NCI-TCGA
CDH1	P12830	p.Lys109Gln	RCV000487251	missense variant	-	NC_000016.10:g.68801831A>C	ClinVar
CDH1	P12830	p.Lys109Gln	RCV000130456	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801831A>C	ClinVar
CDH1	P12830	p.Lys109Gln	RCV000463382	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801831A>C	ClinVar
CDH1	P12830	p.Lys109Gln	rs587782023	missense variant	-	NC_000016.10:g.68801831A>C	TOPMed,gnomAD
CDH1	P12830	p.Ser111Phe	RCV000700206	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801838C>T	ClinVar
CDH1	P12830	p.Lys113Glu	RCV000572873	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801843A>G	ClinVar
CDH1	P12830	p.Lys113Glu	RCV000463944	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801843A>G	ClinVar
CDH1	P12830	p.Lys113Glu	rs876661106	missense variant	-	NC_000016.10:g.68801843A>G	NCI-TCGA Cosmic
CDH1	P12830	p.Lys113Ter	rs876661106	stop gained	-	NC_000016.10:g.68801843A>T	gnomAD
CDH1	P12830	p.Lys113Glu	rs876661106	missense variant	-	NC_000016.10:g.68801843A>G	gnomAD
CDH1	P12830	p.Lys113Ter	RCV000220040	nonsense	-	NC_000016.10:g.68801843A>T	ClinVar
CDH1	P12830	p.Lys113Glu	RCV000217135	missense variant	-	NC_000016.10:g.68801843A>G	ClinVar
CDH1	P12830	p.Thr115Met	RCV000129106	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801850C>T	ClinVar
CDH1	P12830	p.Thr115Met	RCV000212350	missense variant	-	NC_000016.10:g.68801850C>T	ClinVar
CDH1	P12830	p.Thr115Met	RCV000197330	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801850C>T	ClinVar
CDH1	P12830	p.Thr115Met	rs370973869	missense variant	-	NC_000016.10:g.68801850C>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn117Ser	RCV000772201	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801856A>G	ClinVar
CDH1	P12830	p.Asn117Ile	RCV000774762	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801856A>T	ClinVar
CDH1	P12830	p.Asn117Ile	rs758733846	missense variant	-	NC_000016.10:g.68801856A>T	ExAC,gnomAD
CDH1	P12830	p.Thr118Ala	RCV000556819	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801858A>G	ClinVar
CDH1	P12830	p.Thr118Ala	rs1555514476	missense variant	-	NC_000016.10:g.68801858A>G	-
CDH1	P12830	p.Thr118Arg	RCV000132103	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801859C>G	ClinVar
CDH1	P12830	p.Thr118Arg	rs587782677	missense variant	-	NC_000016.10:g.68801859C>G	-
CDH1	P12830	p.Val119Met	RCV000639245	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801861G>A	ClinVar
CDH1	P12830	p.Val119Met	RCV000167336	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801861G>A	ClinVar
CDH1	P12830	p.Val119Met	rs786203849	missense variant	-	NC_000016.10:g.68801861G>A	-
CDH1	P12830	p.Val119Met	RCV000487213	missense variant	-	NC_000016.10:g.68801861G>A	ClinVar
CDH1	P12830	p.Gly120Arg	RCV000213499	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801864G>A	ClinVar
CDH1	P12830	p.Gly120Arg	rs751789834	missense variant	-	NC_000016.10:g.68801864G>A	ExAC,gnomAD
CDH1	P12830	p.His121Gln	RCV000777110	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801869C>G	ClinVar
CDH1	P12830	p.His121Ter	RCV000227876	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801866dup	ClinVar
CDH1	P12830	p.His121Gln	rs781427897	missense variant	-	NC_000016.10:g.68801869C>A	ExAC,gnomAD
CDH1	P12830	p.His121Asn	rs1305026083	missense variant	-	NC_000016.10:g.68801867C>A	gnomAD
CDH1	P12830	p.His122Gln	RCV000217115	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801872C>G	ClinVar
CDH1	P12830	p.His122Gln	rs140123339	missense variant	-	NC_000016.10:g.68801872C>G	ESP
CDH1	P12830	p.His122Tyr	rs528816701	missense variant	-	NC_000016.10:g.68801870C>T	ExAC,gnomAD
CDH1	P12830	p.His122Arg	RCV000582606	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801871A>G	ClinVar
CDH1	P12830	p.His122Arg	rs373668742	missense variant	-	NC_000016.10:g.68801871A>G	ESP,ExAC,gnomAD
CDH1	P12830	p.His122Asp	rs528816701	missense variant	-	NC_000016.10:g.68801870C>G	ExAC,gnomAD
CDH1	P12830	p.His122Tyr	RCV000639287	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801870C>T	ClinVar
CDH1	P12830	p.His123Arg	RCV000165782	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801874A>G	ClinVar
CDH1	P12830	p.His123Gln	RCV000166535	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801875C>G	ClinVar
CDH1	P12830	p.His123Gln	rs778954591	missense variant	-	NC_000016.10:g.68801875C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.His123Asn	RCV000639233	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801873C>A	ClinVar
CDH1	P12830	p.His123Asn	rs1555514482	missense variant	-	NC_000016.10:g.68801873C>A	-
CDH1	P12830	p.His123Arg	rs786202794	missense variant	-	NC_000016.10:g.68801874A>G	TOPMed
CDH1	P12830	p.His123Gln	RCV000639218	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801875C>G	ClinVar
CDH1	P12830	p.His123Arg	RCV000703362	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801874A>G	ClinVar
CDH1	P12830	p.His123Tyr	VAR_001306	Missense	-	-	UniProt
CDH1	P12830	p.Arg124Cys	rs748086082	missense variant	-	NC_000016.10:g.68801876C>T	NCI-TCGA
CDH1	P12830	p.Arg124His	RCV000235150	missense variant	-	NC_000016.10:g.68801877G>A	ClinVar
CDH1	P12830	p.Arg124Cys	RCV000565531	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801876C>T	ClinVar
CDH1	P12830	p.Arg124Cys	rs748086082	missense variant	-	NC_000016.10:g.68801876C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg124His	rs115418995	missense variant	-	NC_000016.10:g.68801877G>A	NCI-TCGA
CDH1	P12830	p.Arg124Pro	RCV000639206	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801877G>C	ClinVar
CDH1	P12830	p.Arg124His	RCV000535278	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801877G>A	ClinVar
CDH1	P12830	p.Arg124Pro	RCV000130746	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801877G>C	ClinVar
CDH1	P12830	p.Arg124Leu	rs115418995	missense variant	-	NC_000016.10:g.68801877G>T	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg124His	rs115418995	missense variant	-	NC_000016.10:g.68801877G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg124Pro	rs115418995	missense variant	-	NC_000016.10:g.68801877G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg124His	RCV000732060	missense variant	-	NC_000016.10:g.68801877G>A	ClinVar
CDH1	P12830	p.Pro125Ser	RCV000160383	missense variant	-	NC_000016.10:g.68801879C>T	ClinVar
CDH1	P12830	p.Pro125Ser	rs730881662	missense variant	-	NC_000016.10:g.68801879C>T	TOPMed,gnomAD
CDH1	P12830	p.Pro125Ser	RCV000217007	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801879C>T	ClinVar
CDH1	P12830	p.Pro125Ser	RCV000809535	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801879C>T	ClinVar
CDH1	P12830	p.Pro126Leu	RCV000679573	missense variant	-	NC_000016.10:g.68801883C>T	ClinVar
CDH1	P12830	p.Pro126Arg	RCV000587043	missense variant	-	NC_000016.10:g.68801883C>G	ClinVar
CDH1	P12830	p.Pro126Gln	RCV000535540	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801883C>A	ClinVar
CDH1	P12830	p.Pro126Leu	rs746703615	missense variant	-	NC_000016.10:g.68801883C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Pro126Arg	rs746703615	missense variant	-	NC_000016.10:g.68801883C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Pro126ArgPheSerTerUnkUnk	COSM19494	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68801878C>-	NCI-TCGA Cosmic
CDH1	P12830	p.Pro126Leu	RCV000465184	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801883C>T	ClinVar
CDH1	P12830	p.Pro126Leu	RCV000163916	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801883C>T	ClinVar
CDH1	P12830	p.Pro126Leu	RCV000765302	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801883C>T	ClinVar
CDH1	P12830	p.Pro126Ser	RCV000557094	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801882C>T	ClinVar
CDH1	P12830	p.Pro126Ter	RCV000473473	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801883del	ClinVar
CDH1	P12830	p.Pro126Gln	rs746703615	missense variant	-	NC_000016.10:g.68801883C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Pro126Ser	rs1555514491	missense variant	-	NC_000016.10:g.68801882C>T	-
CDH1	P12830	p.Pro126Ter	RCV000507242	frameshift	-	NC_000016.10:g.68801883del	ClinVar
CDH1	P12830	p.Pro127AlaPheSerTerUnkUnk	COSM20785	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68801877_68801878insC	NCI-TCGA Cosmic
CDH1	P12830	p.Pro127Thr	RCV000477167	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801885C>A	ClinVar
CDH1	P12830	p.Pro127Thr	rs1060501250	missense variant	-	NC_000016.10:g.68801885C>A	-
CDH1	P12830	p.His128Tyr	RCV000822348	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801888C>T	ClinVar
CDH1	P12830	p.His128Ter	RCV000571499	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801888del	ClinVar
CDH1	P12830	p.His128Ter	RCV000576815	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801888del	ClinVar
CDH1	P12830	p.His128Tyr	RCV000582729	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68801888C>T	ClinVar
CDH1	P12830	p.His128Tyr	RCV000508524	missense variant	-	NC_000016.10:g.68801888C>T	ClinVar
CDH1	P12830	p.His128Ter	RCV000687705	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68801875_68801881CCGCCCC[3]	ClinVar
CDH1	P12830	p.His128Tyr	rs376152506	missense variant	-	NC_000016.10:g.68801888C>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gln129His	rs764700595	missense variant	-	NC_000016.10:g.68801893G>T	ExAC,gnomAD
CDH1	P12830	p.Gln129His	rs764700595	missense variant	-	NC_000016.10:g.68801893G>T	NCI-TCGA,NCI-TCGA Cosmic
CDH1	P12830	p.Gln129Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68801891C>T	NCI-TCGA
CDH1	P12830	p.Val132Ile	RCV000221311	missense variant	-	NC_000016.10:g.68808430G>A	ClinVar
CDH1	P12830	p.Val132Ile	RCV000204503	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808430G>A	ClinVar
CDH1	P12830	p.Val132Ile	rs142498771	missense variant	-	NC_000016.10:g.68808430G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ser133Phe	COSM417306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808434C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Gly134Arg	rs1060501220	missense variant	-	NC_000016.10:g.68808436G>A	-
CDH1	P12830	p.Gly134Arg	RCV000474205	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808436G>A	ClinVar
CDH1	P12830	p.Ile135Asn	RCV000574925	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808440T>A	ClinVar
CDH1	P12830	p.Ile135Met	rs1047878465	missense variant	-	NC_000016.10:g.68808441C>G	-
CDH1	P12830	p.Ile135Met	RCV000519747	missense variant	-	NC_000016.10:g.68808441C>G	ClinVar
CDH1	P12830	p.Ile135Asn	rs1555515189	missense variant	-	NC_000016.10:g.68808440T>A	-
CDH1	P12830	p.Gln136Pro	RCV000563197	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808443A>C	ClinVar
CDH1	P12830	p.Gln136Lys	RCV000780093	missense variant	-	NC_000016.10:g.68808442C>A	ClinVar
CDH1	P12830	p.Gln136Arg	RCV000777317	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808443A>G	ClinVar
CDH1	P12830	p.Gln136Arg	rs1184630483	missense variant	-	NC_000016.10:g.68808443A>G	gnomAD
CDH1	P12830	p.Gln136Lys	rs753886948	missense variant	-	NC_000016.10:g.68808442C>A	ExAC,gnomAD
CDH1	P12830	p.Gln136Pro	rs1184630483	missense variant	-	NC_000016.10:g.68808443A>C	gnomAD
CDH1	P12830	p.Gln136Arg	RCV000703074	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808443A>G	ClinVar
CDH1	P12830	p.Ala137Thr	RCV000775844	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808445G>A	ClinVar
CDH1	P12830	p.Ala137Pro	RCV000223635	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808445G>C	ClinVar
CDH1	P12830	p.Ala137Pro	rs876658797	missense variant	-	NC_000016.10:g.68808445G>C	-
CDH1	P12830	p.Ala137Pro	RCV000466626	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808445G>C	ClinVar
CDH1	P12830	p.Glu138Gly	rs864622284	missense variant	-	NC_000016.10:g.68808449A>G	-
CDH1	P12830	p.Glu138Gly	RCV000205131	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808449A>G	ClinVar
CDH1	P12830	p.Leu139Phe	rs1057521858	missense variant	-	NC_000016.10:g.68808453G>C	TOPMed
CDH1	P12830	p.Leu140Phe	rs758277885	missense variant	-	NC_000016.10:g.68808454C>T	ExAC,gnomAD
CDH1	P12830	p.Thr141ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68808456_68808489CACATTTCCCAACTCCTCTCCTGGCCTCAGAAGA>-	NCI-TCGA
CDH1	P12830	p.Pro143Leu	RCV000639272	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808464C>T	ClinVar
CDH1	P12830	p.Pro143Ser	RCV000215248	missense variant	-	NC_000016.10:g.68808463C>T	ClinVar
CDH1	P12830	p.Pro143His	rs777714207	missense variant	-	NC_000016.10:g.68808464C>A	ExAC,gnomAD
CDH1	P12830	p.Pro143Leu	rs777714207	missense variant	-	NC_000016.10:g.68808464C>T	ExAC,gnomAD
CDH1	P12830	p.Pro143Ser	rs876661226	missense variant	-	NC_000016.10:g.68808463C>T	TOPMed,gnomAD
CDH1	P12830	p.Asn144ThrPheSerTerUnkUnk	COSM5833140	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808466A>-	NCI-TCGA Cosmic
CDH1	P12830	p.Asn144Asp	rs1460999478	missense variant	-	NC_000016.10:g.68808466A>G	gnomAD
CDH1	P12830	p.Ser146Cys	RCV000625762	missense variant	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000016.10:g.68808473C>G	ClinVar
CDH1	P12830	p.Ser146Cys	rs751425296	missense variant	-	NC_000016.10:g.68808473C>G	ExAC,gnomAD
CDH1	P12830	p.Pro147Arg	RCV000131795	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808476C>G	ClinVar
CDH1	P12830	p.Pro147Ser	RCV000700071	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808475C>T	ClinVar
CDH1	P12830	p.Pro147Ter	RCV000583014	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808472_68808473TC[1]	ClinVar
CDH1	P12830	p.Pro147Arg	RCV000639257	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808476C>G	ClinVar
CDH1	P12830	p.Pro147Arg	rs587782571	missense variant	-	NC_000016.10:g.68808476C>G	ExAC,gnomAD
CDH1	P12830	p.Pro147HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68808453_68808454insCTCACATTTCCCAACTCCT	NCI-TCGA
CDH1	P12830	p.Gly148Ser	RCV000801723	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808478G>A	ClinVar
CDH1	P12830	p.Gly148Ser	RCV000781212	missense variant	-	NC_000016.10:g.68808478G>A	ClinVar
CDH1	P12830	p.Leu149Pro	RCV000410957	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808482T>C	ClinVar
CDH1	P12830	p.Leu149Ile	RCV000214362	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808481C>A	ClinVar
CDH1	P12830	p.Leu149Pro	RCV000166436	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808482T>C	ClinVar
CDH1	P12830	p.Leu149Pro	rs780955025	missense variant	-	NC_000016.10:g.68808482T>C	ExAC,gnomAD
CDH1	P12830	p.Leu149Ile	rs876658781	missense variant	-	NC_000016.10:g.68808481C>A	-
CDH1	P12830	p.Arg150Gly	rs1288704070	missense variant	-	NC_000016.10:g.68808484A>G	gnomAD
CDH1	P12830	p.Arg151Ile	RCV000473387	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808488G>T	ClinVar
CDH1	P12830	p.Arg151Ile	rs1060501213	missense variant	-	NC_000016.10:g.68808488G>T	-
CDH1	P12830	p.Gln152His	RCV000167046	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808492G>C	ClinVar
CDH1	P12830	p.Gln152Glu	RCV000570464	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808490C>G	ClinVar
CDH1	P12830	p.Gln152Glu	RCV000506785	missense variant	-	NC_000016.10:g.68808490C>G	ClinVar
CDH1	P12830	p.Gln152Ter	RCV000584690	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808491_68808501del	ClinVar
CDH1	P12830	p.Gln152Glu	rs1555515211	missense variant	-	NC_000016.10:g.68808490C>G	-
CDH1	P12830	p.Gln152Ter	RCV000657353	frameshift	-	NC_000016.10:g.68808491_68808501del	ClinVar
CDH1	P12830	p.Gln152Ter	RCV000657322	frameshift	-	NC_000016.10:g.68808483_68808489CAGAAGA[1]	ClinVar
CDH1	P12830	p.Gln152His	rs745589555	missense variant	-	NC_000016.10:g.68808492G>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gln152Arg	rs1233421331	missense variant	-	NC_000016.10:g.68808491A>G	TOPMed
CDH1	P12830	p.Lys153Ter	RCV000581892	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808493_68808496del	ClinVar
CDH1	P12830	p.Lys153Ter	RCV000689578	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808493A>T	ClinVar
CDH1	P12830	p.Arg154Ter	RCV000492486	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808483_68808489CAGAAGA[3]	ClinVar
CDH1	P12830	p.Trp156Ter	RCV000525870	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808503G>A	ClinVar
CDH1	P12830	p.Trp156Ter	RCV000218005	nonsense	-	NC_000016.10:g.68808504G>A	ClinVar
CDH1	P12830	p.Trp156Ter	rs1555515215	stop gained	-	NC_000016.10:g.68808503G>A	-
CDH1	P12830	p.Trp156Ter	rs876661107	stop gained	-	NC_000016.10:g.68808504G>A	-
CDH1	P12830	p.Val157Ala	rs587783046	missense variant	-	NC_000016.10:g.68808506T>C	-
CDH1	P12830	p.Val157Ala	RCV000144589	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808506T>C	ClinVar
CDH1	P12830	p.Pro159LeuPheSerTerUnkUnk	COSM435586	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808511C>-	NCI-TCGA Cosmic
CDH1	P12830	p.Pro159Leu	COSM4062174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808512C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Pro160ArgPheSerTerUnk	COSM1479021	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808514_68808515insG	NCI-TCGA Cosmic
CDH1	P12830	p.Ile161Ter	RCV000563868	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808516_68808522delinsAGAATA	ClinVar
CDH1	P12830	p.Ser162Ile	RCV000772852	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808521G>T	ClinVar
CDH1	P12830	p.Cys163Ser	RCV000484023	missense variant	-	NC_000016.10:g.68808524G>C	ClinVar
CDH1	P12830	p.Cys163Ter	RCV000480530	nonsense	-	NC_000016.10:g.68808525C>A	ClinVar
CDH1	P12830	p.Cys163Ser	RCV000574597	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808524G>C	ClinVar
CDH1	P12830	p.Cys163Ser	rs748783182	missense variant	-	NC_000016.10:g.68808524G>C	ExAC,gnomAD
CDH1	P12830	p.Cys163Trp	RCV000529493	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808525C>G	ClinVar
CDH1	P12830	p.Cys163Ser	RCV000228101	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808524G>C	ClinVar
CDH1	P12830	p.Cys163Trp	rs1064794230	missense variant	-	NC_000016.10:g.68808525C>G	-
CDH1	P12830	p.Asn166Lys	RCV000554684	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808534T>G	ClinVar
CDH1	P12830	p.Asn166MetPheSerTerUnkUnk	COSM5226736	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808530A>-	NCI-TCGA Cosmic
CDH1	P12830	p.Asn166Lys	rs1555515224	missense variant	-	NC_000016.10:g.68808534T>G	-
CDH1	P12830	p.Glu167Lys	RCV000206273	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808535G>A	ClinVar
CDH1	P12830	p.Glu167Ter	COSM1659145	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808535G>T	NCI-TCGA Cosmic
CDH1	P12830	p.Glu167Lys	RCV000220446	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808535G>A	ClinVar
CDH1	P12830	p.Glu167Lys	RCV000590271	missense variant	-	NC_000016.10:g.68808535G>A	ClinVar
CDH1	P12830	p.Glu167Lys	rs769076258	missense variant	-	NC_000016.10:g.68808535G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Lys168Arg	RCV000639213	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808539A>G	ClinVar
CDH1	P12830	p.Lys168Arg	rs1483883033	missense variant	-	NC_000016.10:g.68808539A>G	-
CDH1	P12830	p.Gly169Ter	RCV000204728	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808540del	ClinVar
CDH1	P12830	p.Gly169ArgPheSerTerUnk	COSM5226337	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808535_68808536insA	NCI-TCGA Cosmic
CDH1	P12830	p.Gly169Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68808541G>T	NCI-TCGA
CDH1	P12830	p.Pro170Ser	rs1284865285	missense variant	-	NC_000016.10:g.68808544C>T	gnomAD
CDH1	P12830	p.Phe171Cys	rs772622109	missense variant	-	NC_000016.10:g.68808548T>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Phe171Cys	RCV000579712	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808548T>G	ClinVar
CDH1	P12830	p.Phe171Cys	RCV000529730	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808548T>G	ClinVar
CDH1	P12830	p.Phe171Cys	RCV000480184	missense variant	-	NC_000016.10:g.68808548T>G	ClinVar
CDH1	P12830	p.Phe171Ile	rs762388314	missense variant	-	NC_000016.10:g.68808547T>A	ExAC,gnomAD
CDH1	P12830	p.Asn174Ter	RCV000479605	frameshift	-	NC_000016.10:g.68808557dup	ClinVar
CDH1	P12830	p.Asn174Ter	RCV000128977	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808557dup	ClinVar
CDH1	P12830	p.Asn174Lys	rs571581856	missense variant	-	NC_000016.10:g.68808558C>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn174Lys	RCV000469682	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808558C>A	ClinVar
CDH1	P12830	p.Asn174Lys	RCV000484145	missense variant	-	NC_000016.10:g.68808558C>A	ClinVar
CDH1	P12830	p.Asn174Lys	RCV000571602	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808558C>A	ClinVar
CDH1	P12830	p.Asn174ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68808553A>-	NCI-TCGA
CDH1	P12830	p.Leu175Pro	COSM4062175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808560T>C	NCI-TCGA Cosmic
CDH1	P12830	p.Gln177Ter	RCV000569995	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808565C>T	ClinVar
CDH1	P12830	p.Gln177Ter	rs1555515232	stop gained	-	NC_000016.10:g.68808565C>T	-
CDH1	P12830	p.Lys179Glu	RCV000736292	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808696A>G	ClinVar
CDH1	P12830	p.Lys179Glu	RCV000588871	missense variant	-	NC_000016.10:g.68808696A>G	ClinVar
CDH1	P12830	p.Lys179Thr	rs1376749029	missense variant	-	NC_000016.10:g.68808697A>C	TOPMed
CDH1	P12830	p.Lys179Glu	rs1555515244	missense variant	-	NC_000016.10:g.68808696A>G	-
CDH1	P12830	p.Asn181ThrPheSerTerUnkUnk	COSM5833141	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808700C>-	NCI-TCGA Cosmic
CDH1	P12830	p.Asn181Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68808703A>C	NCI-TCGA
CDH1	P12830	p.Lys182Asn	RCV000485548	missense variant	-	NC_000016.10:g.68808707A>C	ClinVar
CDH1	P12830	p.Lys182Glu	RCV000584034	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808705A>G	ClinVar
CDH1	P12830	p.Lys182Asn	RCV000537889	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808707A>C	ClinVar
CDH1	P12830	p.Lys182Glu	rs1555515245	missense variant	-	NC_000016.10:g.68808705A>G	-
CDH1	P12830	p.Lys182Asn	rs201141645	missense variant	-	NC_000016.10:g.68808707A>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp183Asn	rs759668091	missense variant	-	NC_000016.10:g.68808708G>A	ExAC,gnomAD
CDH1	P12830	p.Lys184Asn	RCV000814393	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808713A>C	ClinVar
CDH1	P12830	p.Lys184Ile	rs200796553	missense variant	-	NC_000016.10:g.68808712A>T	1000Genomes
CDH1	P12830	p.Lys184Asn	RCV000561775	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808713A>C	ClinVar
CDH1	P12830	p.Lys184Asn	rs1555515248	missense variant	-	NC_000016.10:g.68808713A>C	-
CDH1	P12830	p.Glu185Val	rs1060501228	missense variant	-	NC_000016.10:g.68808715A>T	-
CDH1	P12830	p.Glu185Gln	rs1434277339	missense variant	-	NC_000016.10:g.68808714G>C	TOPMed
CDH1	P12830	p.Glu185Val	RCV000460766	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808715A>T	ClinVar
CDH1	P12830	p.Gly186Val	RCV000693136	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808718G>T	ClinVar
CDH1	P12830	p.Lys187Arg	COSM4935145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808721A>G	NCI-TCGA Cosmic
CDH1	P12830	p.Val188Ile	RCV000561683	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808723G>A	ClinVar
CDH1	P12830	p.Val188Asp	COSM4062176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808724T>A	NCI-TCGA Cosmic
CDH1	P12830	p.Val188Ile	RCV000219361	missense variant	-	NC_000016.10:g.68808723G>A	ClinVar
CDH1	P12830	p.Val188Ile	rs775484115	missense variant	-	NC_000016.10:g.68808723G>A	ExAC,gnomAD
CDH1	P12830	p.Val188Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68808723G>T	NCI-TCGA
CDH1	P12830	p.Tyr190Cys	COSM4062177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808730A>G	NCI-TCGA Cosmic
CDH1	P12830	p.Tyr190LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68808728_68808729insT	NCI-TCGA
CDH1	P12830	p.Ile192Val	RCV000679578	missense variant	-	NC_000016.10:g.68808735A>G	ClinVar
CDH1	P12830	p.Ile192Val	RCV000130285	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808735A>G	ClinVar
CDH1	P12830	p.Ile192Val	RCV000639219	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808735A>G	ClinVar
CDH1	P12830	p.Ile192Val	rs376102028	missense variant	-	NC_000016.10:g.68808735A>G	ESP,ExAC,gnomAD
CDH1	P12830	p.Thr193Pro	VAR_001307	Missense	-	-	UniProt
CDH1	P12830	p.Gln195Ter	COSM3818342	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808744C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Gln195His	RCV000567664	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808746A>C	ClinVar
CDH1	P12830	p.Gln195His	rs1555515262	missense variant	-	NC_000016.10:g.68808746A>C	-
CDH1	P12830	p.Ala197Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68808750G>A	NCI-TCGA
CDH1	P12830	p.Asp198Asn	rs1308439785	missense variant	-	NC_000016.10:g.68808753G>A	gnomAD
CDH1	P12830	p.Asp198His	RCV000562959	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808753G>C	ClinVar
CDH1	P12830	p.Asp198Asn	RCV000581132	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808753G>A	ClinVar
CDH1	P12830	p.Asp198His	rs1308439785	missense variant	-	NC_000016.10:g.68808753G>C	gnomAD
CDH1	P12830	p.Thr199Ile	rs750249747	missense variant	-	NC_000016.10:g.68808757C>T	ExAC,gnomAD
CDH1	P12830	p.Thr199Lys	RCV000566758	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808757C>A	ClinVar
CDH1	P12830	p.Thr199Ter	RCV000560934	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808755_68808756insT	ClinVar
CDH1	P12830	p.Thr199Ser	rs876658424	missense variant	-	NC_000016.10:g.68808756A>T	TOPMed,gnomAD
CDH1	P12830	p.Thr199Lys	rs750249747	missense variant	-	NC_000016.10:g.68808757C>A	ExAC,gnomAD
CDH1	P12830	p.Thr199Ser	RCV000462620	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808756A>T	ClinVar
CDH1	P12830	p.Thr199Ser	RCV000223207	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808756A>T	ClinVar
CDH1	P12830	p.Pro200Leu	RCV000543706	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808760C>T	ClinVar
CDH1	P12830	p.Pro200Leu	rs1555515266	missense variant	-	NC_000016.10:g.68808760C>T	-
CDH1	P12830	p.Pro201His	RCV000809357	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808763C>A	ClinVar
CDH1	P12830	p.Pro201His	rs146777134	missense variant	-	NC_000016.10:g.68808763C>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Pro201Ala	COSM3818344	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808762C>G	NCI-TCGA Cosmic
CDH1	P12830	p.Pro201LeuPheSerTerUnkUnk	COSM5833142	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808759C>-	NCI-TCGA Cosmic
CDH1	P12830	p.Pro201Ser	COSM3888814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808762C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Pro201Arg	RCV000484451	missense variant	-	NC_000016.10:g.68808763C>G	ClinVar
CDH1	P12830	p.Pro201Arg	RCV000571741	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808763C>G	ClinVar
CDH1	P12830	p.Pro201His	RCV000574170	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808763C>A	ClinVar
CDH1	P12830	p.Pro201Arg	RCV000639285	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808763C>G	ClinVar
CDH1	P12830	p.Pro201Arg	rs146777134	missense variant	-	NC_000016.10:g.68808763C>G	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val202Leu	RCV000505993	missense variant	-	NC_000016.10:g.68808765G>C	ClinVar
CDH1	P12830	p.Val202Leu	RCV000216760	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808765G>C	ClinVar
CDH1	P12830	p.Val202Leu	rs546716073	missense variant	-	NC_000016.10:g.68808765G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val202CysPheSerTerUnk	COSM5205432	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808758_68808759insC	NCI-TCGA Cosmic
CDH1	P12830	p.Val202Ter	RCV000522621	frameshift	-	NC_000016.10:g.68808764del	ClinVar
CDH1	P12830	p.Val202Ile	RCV000120512	missense variant	-	NC_000016.10:g.68808765G>A	ClinVar
CDH1	P12830	p.Val202Ile	rs546716073	missense variant	-	NC_000016.10:g.68808765G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val202Ala	rs1257844218	missense variant	-	NC_000016.10:g.68808766T>C	TOPMed
CDH1	P12830	p.Val202Ter	RCV000492348	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808764del	ClinVar
CDH1	P12830	p.Val202LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68808758_68808759insCC	NCI-TCGA
CDH1	P12830	p.Gly203Ser	RCV000695606	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808768G>A	ClinVar
CDH1	P12830	p.Gly203Ser	rs1215319435	missense variant	-	NC_000016.10:g.68808768G>A	gnomAD
CDH1	P12830	p.Gly203Asp	rs753584564	missense variant	-	NC_000016.10:g.68808769G>A	ExAC,gnomAD
CDH1	P12830	p.Gly203Arg	rs1215319435	missense variant	-	NC_000016.10:g.68808768G>C	gnomAD
CDH1	P12830	p.Gly203Arg	RCV000773351	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808768G>C	ClinVar
CDH1	P12830	p.Val204Ile	RCV000698915	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808771G>A	ClinVar
CDH1	P12830	p.Val204Ile	RCV000221294	missense variant	-	NC_000016.10:g.68808771G>A	ClinVar
CDH1	P12830	p.Val204Ala	rs754581268	missense variant	-	NC_000016.10:g.68808772T>C	ExAC,gnomAD
CDH1	P12830	p.Val204Ile	rs876661028	missense variant	-	NC_000016.10:g.68808771G>A	-
CDH1	P12830	p.Phe205Ser	RCV000736289	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808775T>C	ClinVar
CDH1	P12830	p.Phe205LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68808774T>-	NCI-TCGA
CDH1	P12830	p.Ile206Leu	rs1004655282	missense variant	-	NC_000016.10:g.68808777A>C	TOPMed
CDH1	P12830	p.Ile206TyrPheSerTerUnk	COSM5833143	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808773_68808774insT	NCI-TCGA Cosmic
CDH1	P12830	p.Ile206Val	RCV000590684	missense variant	-	NC_000016.10:g.68808777A>G	ClinVar
CDH1	P12830	p.Ile206Thr	rs1254143781	missense variant	-	NC_000016.10:g.68808778T>C	gnomAD
CDH1	P12830	p.Ile206Val	rs1004655282	missense variant	-	NC_000016.10:g.68808777A>G	TOPMed
CDH1	P12830	p.Ile207Thr	RCV000774764	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808781T>C	ClinVar
CDH1	P12830	p.Ile207Thr	rs778570149	missense variant	-	NC_000016.10:g.68808781T>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ile207Val	rs1470258333	missense variant	-	NC_000016.10:g.68808780A>G	gnomAD
CDH1	P12830	p.Glu208Lys	RCV000568330	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808783G>A	ClinVar
CDH1	P12830	p.Glu208Lys	rs898610512	missense variant	-	NC_000016.10:g.68808783G>A	TOPMed
CDH1	P12830	p.Arg209Lys	rs1060501243	missense variant	-	NC_000016.10:g.68808787G>A	-
CDH1	P12830	p.Arg209Lys	RCV000468759	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808787G>A	ClinVar
CDH1	P12830	p.Arg209GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68808784A>-	NCI-TCGA
CDH1	P12830	p.Glu210Ter	COSM3421114	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68808789G>T	NCI-TCGA Cosmic
CDH1	P12830	p.Thr211Ser	RCV000129994	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808792A>T	ClinVar
CDH1	P12830	p.Thr211Ser	rs587781766	missense variant	-	NC_000016.10:g.68808792A>T	TOPMed
CDH1	P12830	p.Thr211Ala	rs587781766	missense variant	-	NC_000016.10:g.68808792A>G	TOPMed
CDH1	P12830	p.Gly212Arg	RCV000487179	missense variant	-	NC_000016.10:g.68808795G>A	ClinVar
CDH1	P12830	p.Gly212Val	RCV000562055	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808796G>T	ClinVar
CDH1	P12830	p.Gly212Val	rs1555515276	missense variant	-	NC_000016.10:g.68808796G>T	-
CDH1	P12830	p.Gly212Glu	COSM2996751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808796G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Gly212Val	RCV000736283	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808796G>T	ClinVar
CDH1	P12830	p.Gly212Arg	rs1064796210	missense variant	-	NC_000016.10:g.68808795G>A	-
CDH1	P12830	p.Trp213Arg	RCV000575669	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808798T>A	ClinVar
CDH1	P12830	p.Trp213Leu	RCV000687455	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808799G>T	ClinVar
CDH1	P12830	p.Trp213Arg	rs1555515277	missense variant	-	NC_000016.10:g.68808798T>A	-
CDH1	P12830	p.Val216Met	RCV000130391	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808807G>A	ClinVar
CDH1	P12830	p.Val216Met	rs587781989	missense variant	-	NC_000016.10:g.68808807G>A	-
CDH1	P12830	p.Thr217Lys	RCV000569411	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808811C>A	ClinVar
CDH1	P12830	p.Thr217Ala	RCV000703043	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808810A>G	ClinVar
CDH1	P12830	p.Thr217Ile	rs778382252	missense variant	-	NC_000016.10:g.68808811C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr217Lys	RCV000205264	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808811C>A	ClinVar
CDH1	P12830	p.Thr217Ile	RCV000216872	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808811C>T	ClinVar
CDH1	P12830	p.Thr217Lys	rs778382252	missense variant	-	NC_000016.10:g.68808811C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu218Gly	RCV000481519	missense variant	-	NC_000016.10:g.68808814A>G	ClinVar
CDH1	P12830	p.Glu218Gly	RCV000228318	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808814A>G	ClinVar
CDH1	P12830	p.Glu218Lys	RCV000563958	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808813G>A	ClinVar
CDH1	P12830	p.Glu218Lys	RCV000558519	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808813G>A	ClinVar
CDH1	P12830	p.Glu218Lys	rs1555515280	missense variant	-	NC_000016.10:g.68808813G>A	-
CDH1	P12830	p.Glu218Gly	rs878854693	missense variant	-	NC_000016.10:g.68808814A>G	-
CDH1	P12830	p.Glu218Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68808813G>T	NCI-TCGA
CDH1	P12830	p.Pro219Ter	RCV000578321	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808817del	ClinVar
CDH1	P12830	p.Pro219Ter	RCV000759015	frameshift	-	NC_000016.10:g.68808817del	ClinVar
CDH1	P12830	p.Pro219Ser	rs1060501216	missense variant	-	NC_000016.10:g.68808816C>T	-
CDH1	P12830	p.Pro219Ser	RCV000461511	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808816C>T	ClinVar
CDH1	P12830	p.Leu220Met	RCV000470596	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808819C>A	ClinVar
CDH1	P12830	p.Leu220Met	rs1060501246	missense variant	-	NC_000016.10:g.68808819C>A	-
CDH1	P12830	p.Leu220His	NCI-TCGA novel	inframe deletion	-	NC_000016.10:g.68808820_68808822TGG>-	NCI-TCGA
CDH1	P12830	p.Asp221Val	COSM1324346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808823A>T	NCI-TCGA Cosmic
CDH1	P12830	p.Asp221Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68808823A>C	NCI-TCGA
CDH1	P12830	p.Asp221Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68808824T>A	NCI-TCGA
CDH1	P12830	p.Arg222Lys	rs1555515287	missense variant	-	NC_000016.10:g.68808826G>A	-
CDH1	P12830	p.Arg222Gly	COSM4062178	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68808825A>G	NCI-TCGA Cosmic
CDH1	P12830	p.Arg222Lys	RCV000536984	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808826G>A	ClinVar
CDH1	P12830	p.Arg224Ser	rs200310662	missense variant	-	NC_000016.10:g.68808831C>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg224Ser	RCV000131242	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808831C>A	ClinVar
CDH1	P12830	p.Arg224Cys	RCV000212353	missense variant	-	NC_000016.10:g.68808831C>T	ClinVar
CDH1	P12830	p.Arg224Leu	RCV000781206	missense variant	-	NC_000016.10:g.68808832G>T	ClinVar
CDH1	P12830	p.Arg224His	RCV000129943	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808832G>A	ClinVar
CDH1	P12830	p.Arg224Leu	rs201511530	missense variant	-	NC_000016.10:g.68808832G>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg224His	rs201511530	missense variant	-	NC_000016.10:g.68808832G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg224Cys	rs200310662	missense variant	-	NC_000016.10:g.68808831C>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ile225Thr	RCV000168059	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808835T>C	ClinVar
CDH1	P12830	p.Ile225Thr	RCV000166415	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808835T>C	ClinVar
CDH1	P12830	p.Ile225Phe	RCV000579503	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808834A>T	ClinVar
CDH1	P12830	p.Ile225Thr	rs786203207	missense variant	-	NC_000016.10:g.68808835T>C	gnomAD
CDH1	P12830	p.Ile225Phe	rs1555515290	missense variant	-	NC_000016.10:g.68808834A>T	-
CDH1	P12830	p.Ala226Val	RCV000534929	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68808838C>T	ClinVar
CDH1	P12830	p.Ala226Val	rs1555515292	missense variant	-	NC_000016.10:g.68808838C>T	-
CDH1	P12830	p.Thr227Ala	RCV000564114	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68808840A>G	ClinVar
CDH1	P12830	p.Thr227Ala	RCV000483491	missense variant	-	NC_000016.10:g.68808840A>G	ClinVar
CDH1	P12830	p.Thr227Ala	rs1064796018	missense variant	-	NC_000016.10:g.68808840A>G	gnomAD
CDH1	P12830	p.Thr229Ile	rs1354439750	missense variant	-	NC_000016.10:g.68808847C>T	TOPMed
CDH1	P12830	p.Ser232Cys	RCV000574198	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810204C>G	ClinVar
CDH1	P12830	p.Ser232Cys	rs1555515422	missense variant	-	NC_000016.10:g.68810204C>G	-
CDH1	P12830	p.His233Ter	RCV000466995	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810201_68810202TC[2]	ClinVar
CDH1	P12830	p.His233Gln	RCV000217590	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810208C>G	ClinVar
CDH1	P12830	p.His233Tyr	rs1352098199	missense variant	-	NC_000016.10:g.68810206C>T	gnomAD
CDH1	P12830	p.His233Gln	rs115494727	missense variant	-	NC_000016.10:g.68810208C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala234Val	rs1377039383	missense variant	-	NC_000016.10:g.68810210C>T	TOPMed
CDH1	P12830	p.Ala234Thr	rs878854694	missense variant	-	NC_000016.10:g.68810209G>A	-
CDH1	P12830	p.Ala234Thr	RCV000232292	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810209G>A	ClinVar
CDH1	P12830	p.Ser236Ter	RCV000160385	nonsense	-	NC_000016.10:g.68810216C>A	ClinVar
CDH1	P12830	p.Ser236Ter	rs730881663	stop gained	-	NC_000016.10:g.68810216C>A	-
CDH1	P12830	p.Asn238His	RCV000561727	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810221A>C	ClinVar
CDH1	P12830	p.Asn238His	rs730881664	missense variant	-	NC_000016.10:g.68810221A>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn238His	RCV000528259	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810221A>C	ClinVar
CDH1	P12830	p.Asn238His	RCV000160386	missense variant	-	NC_000016.10:g.68810221A>C	ClinVar
CDH1	P12830	p.Asn238Ter	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68810220_68810221insT	NCI-TCGA
CDH1	P12830	p.Asn238Ter	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68810221_68810234AACGGGAATGCAGT>-	NCI-TCGA
CDH1	P12830	p.Gly239Arg	RCV000119150	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810224G>A	ClinVar
CDH1	P12830	p.Gly239Arg	rs587780537	missense variant	-	NC_000016.10:g.68810224G>A	-
CDH1	P12830	p.Asn240Ser	RCV000486588	missense variant	-	NC_000016.10:g.68810228A>G	ClinVar
CDH1	P12830	p.Asn240Ser	RCV000575157	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810228A>G	ClinVar
CDH1	P12830	p.Asn240Ser	rs587780788	missense variant	-	NC_000016.10:g.68810228A>G	-
CDH1	P12830	p.Asn240Ter	RCV000663083	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810229del	ClinVar
CDH1	P12830	p.Asn240Ser	RCV000767163	missense variant	-	NC_000016.10:g.68810228A>G	ClinVar
CDH1	P12830	p.Asn240Ser	RCV000123254	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810228A>G	ClinVar
CDH1	P12830	p.Asn240Ter	RCV000492558	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810229del	ClinVar
CDH1	P12830	p.Ala241Thr	RCV000561381	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810230G>A	ClinVar
CDH1	P12830	p.Ala241Thr	rs1555515434	missense variant	-	NC_000016.10:g.68810230G>A	-
CDH1	P12830	p.Ala241Gly	rs1267605366	missense variant	-	NC_000016.10:g.68810231C>G	TOPMed
CDH1	P12830	p.Val242Leu	rs111662525	missense variant	-	NC_000016.10:g.68810233G>C	TOPMed,gnomAD
CDH1	P12830	p.Val242Ile	RCV000480312	missense variant	-	NC_000016.10:g.68810233G>A	ClinVar
CDH1	P12830	p.Val242Leu	RCV000479743	missense variant	-	NC_000016.10:g.68810233G>C	ClinVar
CDH1	P12830	p.Val242Ile	rs111662525	missense variant	-	NC_000016.10:g.68810233G>A	TOPMed,gnomAD
CDH1	P12830	p.Val242Ile	RCV000204783	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810233G>A	ClinVar
CDH1	P12830	p.Glu243Gln	COSM1302175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68810236G>C	NCI-TCGA Cosmic
CDH1	P12830	p.Glu243Lys	COSM435592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68810236G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Asp244Gly	rs1064794231	missense variant	-	NC_000016.10:g.68810240A>G	TOPMed
CDH1	P12830	p.Asp244Gly	rs1064794231	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810240A>G	UniProt,dbSNP
CDH1	P12830	p.Asp244Gly	VAR_008712	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810240A>G	UniProt
CDH1	P12830	p.Asp244Gly	RCV000486442	missense variant	-	NC_000016.10:g.68810240A>G	ClinVar
CDH1	P12830	p.Asp244Gly	RCV000568819	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810240A>G	ClinVar
CDH1	P12830	p.Asp244Gly	RCV000698453	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810240A>G	ClinVar
CDH1	P12830	p.Pro245Leu	rs371612417	missense variant	-	NC_000016.10:g.68810243C>T	ESP,ExAC,gnomAD
CDH1	P12830	p.Glu247Lys	RCV000582967	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810248G>A	ClinVar
CDH1	P12830	p.Glu247Gly	RCV000773508	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810249A>G	ClinVar
CDH1	P12830	p.Glu247Lys	rs1555515437	missense variant	-	NC_000016.10:g.68810248G>A	-
CDH1	P12830	p.Glu247AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68810244_68810245insATGG	NCI-TCGA
CDH1	P12830	p.Ile248Phe	COSM4062179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68810251A>T	NCI-TCGA Cosmic
CDH1	P12830	p.Ile248Thr	RCV000553471	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810252T>C	ClinVar
CDH1	P12830	p.Ile248Thr	rs1555515438	missense variant	-	NC_000016.10:g.68810252T>C	-
CDH1	P12830	p.Leu249Val	COSM3782980	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68810254T>G	NCI-TCGA Cosmic
CDH1	P12830	p.Thr251Lys	COSM3818345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68810261C>A	NCI-TCGA Cosmic
CDH1	P12830	p.Thr251Met	rs1454205778	missense variant	-	NC_000016.10:g.68810261C>T	gnomAD
CDH1	P12830	p.Val252Ile	RCV000574325	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810263G>A	ClinVar
CDH1	P12830	p.Val252Ile	rs1358319984	missense variant	-	NC_000016.10:g.68810263G>A	TOPMed,gnomAD
CDH1	P12830	p.Val252Ile	RCV000701764	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810263G>A	ClinVar
CDH1	P12830	p.Thr253Ile	RCV000572481	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810267C>T	ClinVar
CDH1	P12830	p.Thr253Ile	rs776503962	missense variant	-	NC_000016.10:g.68810267C>T	ExAC,gnomAD
CDH1	P12830	p.Asp254His	RCV000736291	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810269G>C	ClinVar
CDH1	P12830	p.Asp254Tyr	RCV000505743	missense variant	Ectropion inferior cleft lip and or palate (BCDS1)	NC_000016.10:g.68810269G>T	ClinVar
CDH1	P12830	p.Asp254Tyr	rs1555515445	missense variant	-	NC_000016.10:g.68810269G>T	-
CDH1	P12830	p.Asp254Tyr	rs1555515445	missense variant	Blepharocheilodontic syndrome 1 (BCDS1)	NC_000016.10:g.68810269G>T	UniProt,dbSNP
CDH1	P12830	p.Asp254Tyr	VAR_079392	missense variant	Blepharocheilodontic syndrome 1 (BCDS1)	NC_000016.10:g.68810269G>T	UniProt
CDH1	P12830	p.Gln255Ter	COSM19780	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68810272C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Asp257Gly	RCV000639203	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810279A>G	ClinVar
CDH1	P12830	p.Asp257Gly	rs1555515446	missense variant	-	NC_000016.10:g.68810279A>G	-
CDH1	P12830	p.Asp257Asn	COSM1379150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68810278G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Asp257Val	VAR_079393	Missense	Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580]	-	UniProt
CDH1	P12830	p.Asn258Tyr	RCV000538702	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810281A>T	ClinVar
CDH1	P12830	p.Asn258Tyr	rs1555515449	missense variant	-	NC_000016.10:g.68810281A>T	-
CDH1	P12830	p.Pro260His	COSM435593	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68810288C>A	NCI-TCGA Cosmic
CDH1	P12830	p.Pro260Ser	RCV000709394	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810287C>T	ClinVar
CDH1	P12830	p.Glu261Ter	RCV000013021	nonsense	Breast cancer, lobular (LBC)	NC_000016.10:g.68810290G>T	ClinVar
CDH1	P12830	p.Glu261Lys	RCV000480274	missense variant	-	NC_000016.10:g.68810290G>A	ClinVar
CDH1	P12830	p.Glu261Lys	RCV000475944	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810290G>A	ClinVar
CDH1	P12830	p.Glu261Ter	rs121964873	stop gained	-	NC_000016.10:g.68810290G>T	ExAC,gnomAD
CDH1	P12830	p.Glu261Lys	rs121964873	missense variant	-	NC_000016.10:g.68810290G>A	ExAC,gnomAD
CDH1	P12830	p.Phe262Val	RCV000700966	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810293T>G	ClinVar
CDH1	P12830	p.Thr263Ser	RCV000571849	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810296A>T	ClinVar
CDH1	P12830	p.Thr263Ile	RCV000531759	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810297C>T	ClinVar
CDH1	P12830	p.Thr263Ser	rs1555515453	missense variant	-	NC_000016.10:g.68810296A>T	-
CDH1	P12830	p.Thr263Ser	RCV000584658	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810297C>G	ClinVar
CDH1	P12830	p.Thr263Ser	rs1555515456	missense variant	-	NC_000016.10:g.68810297C>G	-
CDH1	P12830	p.Thr263Ile	rs1555515456	missense variant	-	NC_000016.10:g.68810297C>T	-
CDH1	P12830	p.Gln264His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68810301G>T	NCI-TCGA
CDH1	P12830	p.Glu265Ter	RCV000457462	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810302G>T	ClinVar
CDH1	P12830	p.Glu265Gln	RCV000465251	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810302G>C	ClinVar
CDH1	P12830	p.Glu265Gln	RCV000217330	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810302G>C	ClinVar
CDH1	P12830	p.Glu265Val	RCV000230097	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810303A>T	ClinVar
CDH1	P12830	p.Glu265Val	RCV000132223	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810303A>T	ClinVar
CDH1	P12830	p.Glu265Gln	RCV000483098	missense variant	-	NC_000016.10:g.68810302G>C	ClinVar
CDH1	P12830	p.Glu265Val	rs587782728	missense variant	-	NC_000016.10:g.68810303A>T	TOPMed,gnomAD
CDH1	P12830	p.Glu265Lys	rs876659503	missense variant	-	NC_000016.10:g.68810302G>A	TOPMed,gnomAD
CDH1	P12830	p.Glu265Gln	rs876659503	missense variant	-	NC_000016.10:g.68810302G>C	TOPMed,gnomAD
CDH1	P12830	p.Glu265Lys	RCV000561464	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810302G>A	ClinVar
CDH1	P12830	p.Glu265Val	RCV000212356	missense variant	-	NC_000016.10:g.68810303A>T	ClinVar
CDH1	P12830	p.Glu265Ter	rs876659503	stop gained	-	NC_000016.10:g.68810302G>T	TOPMed,gnomAD
CDH1	P12830	p.Val266Phe	RCV000698427	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810305G>T	ClinVar
CDH1	P12830	p.Val266Phe	RCV000566247	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810305G>T	ClinVar
CDH1	P12830	p.Val266Phe	rs1555515463	missense variant	-	NC_000016.10:g.68810305G>T	-
CDH1	P12830	p.Gly269Arg	RCV000507564	missense variant	-	NC_000016.10:g.68810314G>A	ClinVar
CDH1	P12830	p.Gly269Arg	rs750979600	missense variant	-	NC_000016.10:g.68810314G>A	ExAC,gnomAD
CDH1	P12830	p.Gly269Arg	RCV000580394	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810314G>A	ClinVar
CDH1	P12830	p.Ser270Ala	RCV000235151	missense variant	-	NC_000016.10:g.68810317T>G	ClinVar
CDH1	P12830	p.Ser270Ala	rs587776399	missense variant	-	NC_000016.10:g.68810317T>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Met272Thr	RCV000774980	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810324T>C	ClinVar
CDH1	P12830	p.Met272LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68810320_68810329GTCATGGAAG>-	NCI-TCGA
CDH1	P12830	p.Glu273Val	RCV000586470	missense variant	-	NC_000016.10:g.68810327A>T	ClinVar
CDH1	P12830	p.Glu273Val	rs1555515467	missense variant	-	NC_000016.10:g.68810327A>T	-
CDH1	P12830	p.Gly274Ser	RCV000639216	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810329G>A	ClinVar
CDH1	P12830	p.Gly274Val	rs876660861	missense variant	-	NC_000016.10:g.68810330G>T	-
CDH1	P12830	p.Gly274Ser	rs781513008	missense variant	-	NC_000016.10:g.68810329G>A	ExAC,gnomAD
CDH1	P12830	p.Gly274Val	RCV000546498	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810330G>T	ClinVar
CDH1	P12830	p.Gly274Asp	rs876660861	missense variant	-	NC_000016.10:g.68810330G>A	-
CDH1	P12830	p.Gly274Asp	RCV000220126	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810330G>A	ClinVar
CDH1	P12830	p.Gly274_Pro277del	VAR_001308	inframe_deletion	-	-	UniProt
CDH1	P12830	p.Leu276Val	RCV000459067	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810335C>G	ClinVar
CDH1	P12830	p.Leu276Val	RCV000217001	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68810335C>G	ClinVar
CDH1	P12830	p.Leu276Val	rs750911401	missense variant	-	NC_000016.10:g.68810335C>G	ExAC,gnomAD
CDH1	P12830	p.Pro277Ser	RCV000204369	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68810338C>T	ClinVar
CDH1	P12830	p.Pro277Ser	rs864622346	missense variant	-	NC_000016.10:g.68810338C>T	TOPMed
CDH1	P12830	p.Gly278Glu	RCV000639201	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811684G>A	ClinVar
CDH1	P12830	p.Gly278Ter	COSM3818347	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68810341G>T	NCI-TCGA Cosmic
CDH1	P12830	p.Gly278Glu	rs1555515597	missense variant	-	NC_000016.10:g.68811684G>A	-
CDH1	P12830	p.Gly278Arg	rs943875725	missense variant	-	NC_000016.10:g.68810341G>C	gnomAD
CDH1	P12830	p.Gly278Arg	rs943875725	missense variant	-	NC_000016.10:g.68810341G>A	gnomAD
CDH1	P12830	p.Gly278Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68811684G>T	NCI-TCGA
CDH1	P12830	p.Thr279Ser	rs761269950	missense variant	-	NC_000016.10:g.68811687C>G	ExAC,gnomAD
CDH1	P12830	p.Thr279Ser	RCV000567156	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811687C>G	ClinVar
CDH1	P12830	p.Thr279Ile	rs761269950	missense variant	-	NC_000016.10:g.68811687C>T	ExAC,gnomAD
CDH1	P12830	p.Thr279Asn	rs761269950	missense variant	-	NC_000016.10:g.68811687C>A	ExAC,gnomAD
CDH1	P12830	p.Met282Thr	RCV000559810	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811696T>C	ClinVar
CDH1	P12830	p.Met282Ile	RCV000572511	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811697G>A	ClinVar
CDH1	P12830	p.Met282Thr	rs730881652	missense variant	-	NC_000016.10:g.68811696T>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Met282Ile	rs200932258	missense variant	-	NC_000016.10:g.68811697G>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Met282Thr	RCV000221994	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811696T>C	ClinVar
CDH1	P12830	p.Met282Thr	RCV000160367	missense variant	-	NC_000016.10:g.68811696T>C	ClinVar
CDH1	P12830	p.Met282Ile	RCV000204924	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811697G>A	ClinVar
CDH1	P12830	p.Met282Ile	RCV000478288	missense variant	-	NC_000016.10:g.68811697G>A	ClinVar
CDH1	P12830	p.Met282Ile	rs200932258	missense variant	-	NC_000016.10:g.68811697G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Met282Ile	rs200932258	missense variant	-	NC_000016.10:g.68811697G>A	UniProt,dbSNP
CDH1	P12830	p.Met282Ile	VAR_033026	missense variant	-	NC_000016.10:g.68811697G>A	UniProt
CDH1	P12830	p.Glu283Lys	RCV000566414	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811698G>A	ClinVar
CDH1	P12830	p.Glu283Lys	rs1555515601	missense variant	-	NC_000016.10:g.68811698G>A	-
CDH1	P12830	p.Val284Ile	RCV000165133	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811701G>A	ClinVar
CDH1	P12830	p.Val284Ile	rs786202364	missense variant	-	NC_000016.10:g.68811701G>A	-
CDH1	P12830	p.Thr285Ile	RCV000534721	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811705C>T	ClinVar
CDH1	P12830	p.Thr285Ile	RCV000656819	missense variant	-	NC_000016.10:g.68811705C>T	ClinVar
CDH1	P12830	p.Thr285Ile	RCV000261135	missense variant	-	NC_000016.10:g.68811705C>T	ClinVar
CDH1	P12830	p.Thr285Ile	rs587781634	missense variant	-	NC_000016.10:g.68811705C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr285Ile	RCV000129743	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811705C>T	ClinVar
CDH1	P12830	p.Asp288GlyPheSerTerUnk	COSM5833144	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68811714_68811715AC>-	NCI-TCGA Cosmic
CDH1	P12830	p.Asp288Asn	COSM3818348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68811713G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Asp288Val	COSM4771810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68811714A>T	NCI-TCGA Cosmic
CDH1	P12830	p.Ala289Val	RCV000561485	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811717C>T	ClinVar
CDH1	P12830	p.Ala289Thr	RCV000759018	missense variant	-	NC_000016.10:g.68811716G>A	ClinVar
CDH1	P12830	p.Ala289Thr	RCV000639266	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811716G>A	ClinVar
CDH1	P12830	p.Ala289Val	rs780399325	missense variant	-	NC_000016.10:g.68811717C>T	ExAC,gnomAD
CDH1	P12830	p.Ala289Thr	RCV000777632	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811716G>A	ClinVar
CDH1	P12830	p.Ala289Thr	rs1255556757	missense variant	-	NC_000016.10:g.68811716G>A	gnomAD
CDH1	P12830	p.Ala289Val	RCV000196783	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811717C>T	ClinVar
CDH1	P12830	p.Ala289ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68811713_68811714insAC	NCI-TCGA
CDH1	P12830	p.Asp290Gly	COSM4062180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68811720A>G	NCI-TCGA Cosmic
CDH1	P12830	p.Asp291Tyr	RCV000481971	missense variant	-	NC_000016.10:g.68811722G>T	ClinVar
CDH1	P12830	p.Asp291Asn	RCV000222993	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811722G>A	ClinVar
CDH1	P12830	p.Asp291Asn	RCV000482281	missense variant	-	NC_000016.10:g.68811722G>A	ClinVar
CDH1	P12830	p.Asp291MetPheSerTerUnk	COSM435595	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68811722G>-	NCI-TCGA Cosmic
CDH1	P12830	p.Asp291Asn	rs876660645	missense variant	-	NC_000016.10:g.68811722G>A	gnomAD
CDH1	P12830	p.Asp291Tyr	rs876660645	missense variant	-	NC_000016.10:g.68811722G>T	gnomAD
CDH1	P12830	p.Asp291Asn	RCV000694385	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811722G>A	ClinVar
CDH1	P12830	p.Val293Ala	RCV000218369	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811729T>C	ClinVar
CDH1	P12830	p.Val293Ala	rs876659186	missense variant	-	NC_000016.10:g.68811729T>C	-
CDH1	P12830	p.Asn294LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68811716_68811717insCGGACGATGATGTGAAA	NCI-TCGA
CDH1	P12830	p.Thr295Ala	RCV000581166	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811734A>G	ClinVar
CDH1	P12830	p.Thr295Asn	RCV000168224	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811735C>A	ClinVar
CDH1	P12830	p.Thr295Ala	RCV000703976	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811734A>G	ClinVar
CDH1	P12830	p.Thr295Asn	rs786204179	missense variant	-	NC_000016.10:g.68811735C>A	-
CDH1	P12830	p.Thr295Ala	rs1555515611	missense variant	-	NC_000016.10:g.68811734A>G	-
CDH1	P12830	p.Asn297Ser	rs572375953	missense variant	-	NC_000016.10:g.68811741A>G	1000Genomes,ExAC,gnomAD
CDH1	P12830	p.Ala298Thr	RCV000148457	missense variant	Neoplasm of stomach	NC_000016.10:g.68811743G>A	ClinVar
CDH1	P12830	p.Ala298Thr	RCV000414947	missense variant	-	NC_000016.10:g.68811743G>A	ClinVar
CDH1	P12830	p.Ala298Thr	rs142822590	missense variant	-	NC_000016.10:g.68811743G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala299Gly	RCV000231332	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811747C>G	ClinVar
CDH1	P12830	p.Ala299Ser	COSM4062181	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68811746G>T	NCI-TCGA Cosmic
CDH1	P12830	p.Ala299Gly	RCV000479514	missense variant	-	NC_000016.10:g.68811747C>G	ClinVar
CDH1	P12830	p.Ala299Gly	RCV000580494	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811747C>G	ClinVar
CDH1	P12830	p.Ala299Gly	rs745807727	missense variant	-	NC_000016.10:g.68811747C>G	ExAC,gnomAD
CDH1	P12830	p.Ala299Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68811746G>A	NCI-TCGA
CDH1	P12830	p.Ile300Val	rs1167723442	missense variant	-	NC_000016.10:g.68811749A>G	gnomAD
CDH1	P12830	p.Ala301Thr	RCV000164825	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811752G>A	ClinVar
CDH1	P12830	p.Ala301Thr	RCV000409432	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811752G>A	ClinVar
CDH1	P12830	p.Ala301Thr	rs749056300	missense variant	-	NC_000016.10:g.68811752G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Tyr302Cys	rs768467134	missense variant	-	NC_000016.10:g.68811756A>G	ExAC,gnomAD
CDH1	P12830	p.Thr303Ala	RCV000214986	missense variant	-	NC_000016.10:g.68811758A>G	ClinVar
CDH1	P12830	p.Thr303Ala	RCV000639236	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811758A>G	ClinVar
CDH1	P12830	p.Thr303Ser	RCV000218776	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811758A>T	ClinVar
CDH1	P12830	p.Thr303Ser	rs876660744	missense variant	-	NC_000016.10:g.68811758A>T	gnomAD
CDH1	P12830	p.Thr303Ala	rs876660744	missense variant	-	NC_000016.10:g.68811758A>G	gnomAD
CDH1	P12830	p.Ile304AsnPheSerTerUnk	COSM5833145	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68811760_68811761insA	NCI-TCGA Cosmic
CDH1	P12830	p.Leu305Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68811764C>A	NCI-TCGA
CDH1	P12830	p.Ser306Gly	RCV000571766	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811767A>G	ClinVar
CDH1	P12830	p.Ser306Gly	rs1555515624	missense variant	-	NC_000016.10:g.68811767A>G	-
CDH1	P12830	p.Ser306Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68811768G>A	NCI-TCGA
CDH1	P12830	p.Gln307His	RCV000474222	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811772A>C	ClinVar
CDH1	P12830	p.Gln307His	rs876660221	missense variant	-	NC_000016.10:g.68811772A>C	-
CDH1	P12830	p.Gln307HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68811769_68811803CCAAGATCCTGAGCTCCCTGACAAAAATATGTTCA>-	NCI-TCGA
CDH1	P12830	p.Asp308Asn	rs1339256204	missense variant	-	NC_000016.10:g.68811773G>A	gnomAD
CDH1	P12830	p.Asp308Val	RCV000693080	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811774A>T	ClinVar
CDH1	P12830	p.Asp308His	RCV000573591	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811773G>C	ClinVar
CDH1	P12830	p.Asp308His	rs1339256204	missense variant	-	NC_000016.10:g.68811773G>C	gnomAD
CDH1	P12830	p.Pro309Leu	RCV000575534	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811777C>T	ClinVar
CDH1	P12830	p.Pro309Leu	rs529089668	missense variant	-	NC_000016.10:g.68811777C>T	gnomAD
CDH1	P12830	p.Glu310Gly	rs1291900177	missense variant	-	NC_000016.10:g.68811780A>G	TOPMed,gnomAD
CDH1	P12830	p.Leu311Phe	RCV000570844	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811782C>T	ClinVar
CDH1	P12830	p.Leu311Ile	rs767003567	missense variant	-	NC_000016.10:g.68811782C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Leu311Phe	rs767003567	missense variant	-	NC_000016.10:g.68811782C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp313Asn	COSM1302177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68811788G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Asp313Tyr	rs993545618	missense variant	-	NC_000016.10:g.68811788G>T	TOPMed
CDH1	P12830	p.Lys314Ter	RCV000492072	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811791A>T	ClinVar
CDH1	P12830	p.Lys314Ter	rs1131690820	stop gained	-	NC_000016.10:g.68811791A>T	-
CDH1	P12830	p.Lys314HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68811789_68811802ACAAAAATATGTTC>-	NCI-TCGA
CDH1	P12830	p.Asn315LysPheSerTerUnk	COSM1379159	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68811790_68811791insA	NCI-TCGA Cosmic
CDH1	P12830	p.Asn315IlePheSerTerUnkUnk	COSM5211861	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68811791A>-	NCI-TCGA Cosmic
CDH1	P12830	p.Asn315Ser	COSM19485	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68811795A>G	NCI-TCGA Cosmic
CDH1	P12830	p.Asn315Ser	VAR_001309	Missense	-	-	UniProt
CDH1	P12830	p.Met316Val	RCV000574966	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811797A>G	ClinVar
CDH1	P12830	p.Met316Val	RCV000559588	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811797A>G	ClinVar
CDH1	P12830	p.Met316Val	RCV000780100	missense variant	-	NC_000016.10:g.68811797A>G	ClinVar
CDH1	P12830	p.Met316Val	rs761182866	missense variant	-	NC_000016.10:g.68811797A>G	ExAC,gnomAD
CDH1	P12830	p.Met316Ile	NCI-TCGA novel	inframe deletion	-	NC_000016.10:g.68811798_68811800TGT>-	NCI-TCGA
CDH1	P12830	p.Phe317Leu	RCV000709395	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811800T>C	ClinVar
CDH1	P12830	p.Phe317Ile	rs1555515643	missense variant	-	NC_000016.10:g.68811800T>A	-
CDH1	P12830	p.Phe317Ile	RCV000579416	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811800T>A	ClinVar
CDH1	P12830	p.Thr318Ile	RCV000569529	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811804C>T	ClinVar
CDH1	P12830	p.Thr318Ile	rs1555515644	missense variant	-	NC_000016.10:g.68811804C>T	-
CDH1	P12830	p.Ile319Leu	RCV000576024	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811806A>C	ClinVar
CDH1	P12830	p.Ile319Leu	RCV000537891	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811806A>C	ClinVar
CDH1	P12830	p.Ile319Val	rs1486730461	missense variant	-	NC_000016.10:g.68811806A>G	gnomAD
CDH1	P12830	p.Ile319Val	RCV000639278	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811806A>G	ClinVar
CDH1	P12830	p.Ile319Leu	rs1486730461	missense variant	-	NC_000016.10:g.68811806A>C	gnomAD
CDH1	P12830	p.Asn320Ser	rs1262816479	missense variant	-	NC_000016.10:g.68811810A>G	TOPMed,gnomAD
CDH1	P12830	p.Arg321Ser	RCV000506969	missense variant	-	NC_000016.10:g.68811814G>C	ClinVar
CDH1	P12830	p.Arg321Gly	RCV000582701	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811812A>G	ClinVar
CDH1	P12830	p.Arg321Ser	RCV000477423	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811814G>C	ClinVar
CDH1	P12830	p.Arg321Ser	rs1060501231	missense variant	-	NC_000016.10:g.68811814G>C	gnomAD
CDH1	P12830	p.Arg321Gly	rs1555515649	missense variant	-	NC_000016.10:g.68811812A>G	-
CDH1	P12830	p.Asn322Ser	RCV000806882	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811816A>G	ClinVar
CDH1	P12830	p.Asn322Ser	RCV000219110	missense variant	-	NC_000016.10:g.68811816A>G	ClinVar
CDH1	P12830	p.Asn322Ser	rs876661274	missense variant	-	NC_000016.10:g.68811816A>G	-
CDH1	P12830	p.Thr323Arg	rs1487750656	missense variant	-	NC_000016.10:g.68811819C>G	gnomAD
CDH1	P12830	p.Gly324Glu	RCV000467135	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811822G>A	ClinVar
CDH1	P12830	p.Gly324Ala	rs1060501232	missense variant	-	NC_000016.10:g.68811822G>C	-
CDH1	P12830	p.Gly324Ala	RCV000470334	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811822G>C	ClinVar
CDH1	P12830	p.Gly324Glu	rs1060501232	missense variant	-	NC_000016.10:g.68811822G>A	-
CDH1	P12830	p.Gly324Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68811821G>T	NCI-TCGA
CDH1	P12830	p.Ile326Val	RCV000709396	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811827A>G	ClinVar
CDH1	P12830	p.Ile326Thr	rs1190209160	missense variant	-	NC_000016.10:g.68811828T>C	gnomAD
CDH1	P12830	p.Ser327Thr	RCV000548107	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811831G>C	ClinVar
CDH1	P12830	p.Ser327Arg	RCV000698135	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811832T>G	ClinVar
CDH1	P12830	p.Ser327Thr	RCV000776380	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811831G>C	ClinVar
CDH1	P12830	p.Ser327Ile	RCV000130021	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811831G>T	ClinVar
CDH1	P12830	p.Ser327Thr	rs587781778	missense variant	-	NC_000016.10:g.68811831G>C	-
CDH1	P12830	p.Ser327Ile	rs587781778	missense variant	-	NC_000016.10:g.68811831G>T	-
CDH1	P12830	p.Val328Met	RCV000166059	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811833G>A	ClinVar
CDH1	P12830	p.Val328Met	rs754228872	missense variant	-	NC_000016.10:g.68811833G>A	ExAC,gnomAD
CDH1	P12830	p.Val328Met	RCV000686762	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811833G>A	ClinVar
CDH1	P12830	p.Val328Met	RCV000478474	missense variant	-	NC_000016.10:g.68811833G>A	ClinVar
CDH1	P12830	p.Thr330Ile	RCV000480528	missense variant	-	NC_000016.10:g.68811840C>T	ClinVar
CDH1	P12830	p.Thr330Ile	RCV000580219	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811840C>T	ClinVar
CDH1	P12830	p.Thr330Ile	rs755371143	missense variant	-	NC_000016.10:g.68811840C>T	ExAC,gnomAD
CDH1	P12830	p.Thr331Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68811842A>G	NCI-TCGA
CDH1	P12830	p.Gly332Arg	RCV000129978	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811845G>A	ClinVar
CDH1	P12830	p.Gly332Arg	rs587781759	missense variant	-	NC_000016.10:g.68811845G>A	ExAC,gnomAD
CDH1	P12830	p.Leu333Gln	rs752916727	missense variant	-	NC_000016.10:g.68811849T>A	ExAC,gnomAD
CDH1	P12830	p.Asp334Glu	rs761981219	missense variant	-	NC_000016.10:g.68811853C>G	TOPMed,gnomAD
CDH1	P12830	p.Arg335Gln	RCV000115832	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811855G>A	ClinVar
CDH1	P12830	p.Arg335Gln	RCV000586292	missense variant	-	NC_000016.10:g.68811855G>A	ClinVar
CDH1	P12830	p.Arg335Ter	RCV000130670	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811854C>T	ClinVar
CDH1	P12830	p.Arg335Ter	RCV000218355	nonsense	-	NC_000016.10:g.68811854C>T	ClinVar
CDH1	P12830	p.Arg335Ter	rs587780784	stop gained	-	NC_000016.10:g.68811854C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg335Gln	RCV000229894	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811855G>A	ClinVar
CDH1	P12830	p.Arg335Ter	RCV000123230	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68811854C>T	ClinVar
CDH1	P12830	p.Arg335Gln	rs373364873	missense variant	-	NC_000016.10:g.68811855G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg335Gly	rs587780784	missense variant	-	NC_000016.10:g.68811854C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu336Lys	COSM4062182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68811857G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Glu336Asp	RCV000572541	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68811859G>T	ClinVar
CDH1	P12830	p.Ser337ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68811854_68811855insGAGA	NCI-TCGA
CDH1	P12830	p.Phe338Cys	rs1060501219	missense variant	-	NC_000016.10:g.68812139T>G	gnomAD
CDH1	P12830	p.Phe338Ser	rs1060501219	missense variant	-	NC_000016.10:g.68812139T>C	gnomAD
CDH1	P12830	p.Phe338Cys	RCV000458147	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812139T>G	ClinVar
CDH1	P12830	p.Pro339Ala	RCV000639228	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812141C>G	ClinVar
CDH1	P12830	p.Pro339Ala	RCV000573380	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812141C>G	ClinVar
CDH1	P12830	p.Pro339LeuPheSerTerUnkUnk	COSM435597	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68812140C>-	NCI-TCGA Cosmic
CDH1	P12830	p.Pro339Ala	rs1555515709	missense variant	-	NC_000016.10:g.68812141C>G	-
CDH1	P12830	p.Thr340Ser	RCV000478241	missense variant	-	NC_000016.10:g.68812144A>T	ClinVar
CDH1	P12830	p.Thr340Ser	RCV000529350	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812144A>T	ClinVar
CDH1	P12830	p.Thr340Met	RCV000129966	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812145C>T	ClinVar
CDH1	P12830	p.Thr340Ala	RCV000677871	missense variant	Adenocarcinoma of stomach	NC_000016.10:g.68812144A>G	ClinVar
CDH1	P12830	p.Thr340Ala	rs116093741	missense variant	-	NC_000016.10:g.68812144A>G	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr340Ser	rs116093741	missense variant	-	NC_000016.10:g.68812144A>T	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr340Met	rs61747631	missense variant	-	NC_000016.10:g.68812145C>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Tyr341Ter	rs587776398	stop gained	-	NC_000016.10:g.68812149T>G	ExAC,gnomAD
CDH1	P12830	p.Tyr341ValPheSerTerUnk	COSM5833146	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68812145_68812146insG	NCI-TCGA Cosmic
CDH1	P12830	p.Tyr341Ter	RCV000144456	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812149T>G	ClinVar
CDH1	P12830	p.Tyr341Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68812147T>G	NCI-TCGA
CDH1	P12830	p.Thr342Ser	RCV000130563	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812150A>T	ClinVar
CDH1	P12830	p.Thr342Ser	rs587782073	missense variant	-	NC_000016.10:g.68812150A>T	TOPMed
CDH1	P12830	p.Thr342Ser	RCV000639270	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812150A>T	ClinVar
CDH1	P12830	p.Leu343Val	RCV000544122	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812153C>G	ClinVar
CDH1	P12830	p.Leu343Val	rs1555515720	missense variant	-	NC_000016.10:g.68812153C>G	-
CDH1	P12830	p.Val344Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68812156G>A	NCI-TCGA
CDH1	P12830	p.Val345Ile	RCV000574360	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812159G>A	ClinVar
CDH1	P12830	p.Val345Ala	RCV000805145	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812160T>C	ClinVar
CDH1	P12830	p.Val345Ter	RCV000523842	frameshift	-	NC_000016.10:g.68812157_68812158dup	ClinVar
CDH1	P12830	p.Val345Ala	rs1064793080	missense variant	-	NC_000016.10:g.68812160T>C	-
CDH1	P12830	p.Val345Ile	rs764532067	missense variant	-	NC_000016.10:g.68812159G>A	ExAC,gnomAD
CDH1	P12830	p.Val345Ala	RCV000481386	missense variant	-	NC_000016.10:g.68812160T>C	ClinVar
CDH1	P12830	p.Gln346Glu	RCV000233415	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812162C>G	ClinVar
CDH1	P12830	p.Gln346Arg	rs1371443675	missense variant	-	NC_000016.10:g.68812163A>G	gnomAD
CDH1	P12830	p.Gln346Glu	rs878854676	missense variant	-	NC_000016.10:g.68812162C>G	-
CDH1	P12830	p.Ala347Thr	RCV000132493	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812165G>A	ClinVar
CDH1	P12830	p.Ala347Thr	rs587782869	missense variant	-	NC_000016.10:g.68812165G>A	ExAC,gnomAD
CDH1	P12830	p.Ala348Ser	RCV000559014	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812168G>T	ClinVar
CDH1	P12830	p.Ala348Ser	rs1555515724	missense variant	-	NC_000016.10:g.68812168G>T	-
CDH1	P12830	p.Leu350Phe	rs1273267349	missense variant	-	NC_000016.10:g.68812174C>T	gnomAD
CDH1	P12830	p.Gln351Ter	rs1555515726	stop gained	-	NC_000016.10:g.68812177C>T	-
CDH1	P12830	p.Gln351Ter	RCV000639274	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812177C>T	ClinVar
CDH1	P12830	p.Gln351Arg	rs762123073	missense variant	-	NC_000016.10:g.68812178A>G	ExAC,gnomAD
CDH1	P12830	p.Gly352Asp	RCV000759719	missense variant	-	NC_000016.10:g.68812181G>A	ClinVar
CDH1	P12830	p.Gly352Asp	rs1555515728	missense variant	-	NC_000016.10:g.68812181G>A	-
CDH1	P12830	p.Gly352Asp	RCV000562131	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812181G>A	ClinVar
CDH1	P12830	p.Gly352ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68812177_68812178insA	NCI-TCGA
CDH1	P12830	p.Glu353Lys	RCV000216189	missense variant	-	NC_000016.10:g.68812183G>A	ClinVar
CDH1	P12830	p.Glu353Val	RCV000563121	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812184A>T	ClinVar
CDH1	P12830	p.Glu353Val	rs1555515730	missense variant	-	NC_000016.10:g.68812184A>T	-
CDH1	P12830	p.Gly354Ter	RCV000196464	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812190del	ClinVar
CDH1	P12830	p.Gly354Ter	RCV000210107	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812190del	ClinVar
CDH1	P12830	p.Thr357Ile	rs1260033180	missense variant	-	NC_000016.10:g.68812196C>T	TOPMed,gnomAD
CDH1	P12830	p.Thr357Lys	rs1260033180	missense variant	-	NC_000016.10:g.68812196C>A	TOPMed,gnomAD
CDH1	P12830	p.Thr358Ile	RCV000564822	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812199C>T	ClinVar
CDH1	P12830	p.Thr358Ile	rs1191901557	missense variant	-	NC_000016.10:g.68812199C>T	TOPMed
CDH1	P12830	p.Thr360Arg	rs549579183	missense variant	-	NC_000016.10:g.68812205C>G	1000Genomes,ExAC,gnomAD
CDH1	P12830	p.Val362Glu	rs1198506273	missense variant	-	NC_000016.10:g.68812211T>A	gnomAD
CDH1	P12830	p.Val362Ter	RCV000563263	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812211del	ClinVar
CDH1	P12830	p.Val362Ter	RCV000736288	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812211del	ClinVar
CDH1	P12830	p.Ile363Leu	rs1555515740	missense variant	-	NC_000016.10:g.68812213A>C	-
CDH1	P12830	p.Ile363Leu	RCV000581894	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812213A>C	ClinVar
CDH1	P12830	p.Thr364Ile	RCV000215211	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812217C>T	ClinVar
CDH1	P12830	p.Thr364Ser	RCV000215755	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812216A>T	ClinVar
CDH1	P12830	p.Thr364Ile	RCV000458635	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812217C>T	ClinVar
CDH1	P12830	p.Thr364Arg	RCV000458391	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812217C>G	ClinVar
CDH1	P12830	p.Thr364Ser	RCV000461743	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812216A>T	ClinVar
CDH1	P12830	p.Thr364Ile	rs876658376	missense variant	-	NC_000016.10:g.68812217C>T	-
CDH1	P12830	p.Thr364Arg	rs876658376	missense variant	-	NC_000016.10:g.68812217C>G	-
CDH1	P12830	p.Thr364Ser	rs778868539	missense variant	-	NC_000016.10:g.68812216A>T	ExAC,gnomAD
CDH1	P12830	p.Thr364SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68812215_68812216CA>-	NCI-TCGA
CDH1	P12830	p.Thr364HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68812216_68812226ACAGTCACTGA>-	NCI-TCGA
CDH1	P12830	p.Val365Ile	RCV000579958	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812219G>A	ClinVar
CDH1	P12830	p.Val365Ile	rs1555515742	missense variant	-	NC_000016.10:g.68812219G>A	-
CDH1	P12830	p.Val365ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68812218_68812224AGTCACT>-	NCI-TCGA
CDH1	P12830	p.Thr366Ser	RCV000639237	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812223C>G	ClinVar
CDH1	P12830	p.Thr366Ser	RCV000217212	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812223C>G	ClinVar
CDH1	P12830	p.Thr366Ala	RCV000456768	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812222A>G	ClinVar
CDH1	P12830	p.Thr366Ala	RCV000583142	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812222A>G	ClinVar
CDH1	P12830	p.Thr366Ala	rs1060501238	missense variant	-	NC_000016.10:g.68812222A>G	gnomAD
CDH1	P12830	p.Thr366Ser	rs876660260	missense variant	-	NC_000016.10:g.68812223C>G	-
CDH1	P12830	p.Thr366Pro	rs1060501238	missense variant	-	NC_000016.10:g.68812222A>C	gnomAD
CDH1	P12830	p.Thr368Ile	RCV000227259	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812229C>T	ClinVar
CDH1	P12830	p.Thr368Ala	RCV000569346	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812228A>G	ClinVar
CDH1	P12830	p.Thr368Ser	rs367868307	missense variant	-	NC_000016.10:g.68812229C>G	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr368Ala	rs1555515749	missense variant	-	NC_000016.10:g.68812228A>G	-
CDH1	P12830	p.Thr368Ser	RCV000776452	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812229C>G	ClinVar
CDH1	P12830	p.Thr368Ile	RCV000131921	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812229C>T	ClinVar
CDH1	P12830	p.Thr368Ser	RCV000775853	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812228A>T	ClinVar
CDH1	P12830	p.Thr368Ser	RCV000537671	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812229C>G	ClinVar
CDH1	P12830	p.Thr368Ile	RCV000759720	missense variant	-	NC_000016.10:g.68812229C>T	ClinVar
CDH1	P12830	p.Thr368Ile	rs367868307	missense variant	-	NC_000016.10:g.68812229C>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn369Ter	RCV000702112	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812233del	ClinVar
CDH1	P12830	p.Asp370Gly	COSM1169611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68812235A>G	NCI-TCGA Cosmic
CDH1	P12830	p.Asp370Asn	COSM4420757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68812234G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Asp370Ala	VAR_001311	Missense	-	-	UniProt
CDH1	P12830	p.Asn371Ser	rs1555515754	missense variant	-	NC_000016.10:g.68812238A>G	-
CDH1	P12830	p.Asn371Ser	RCV000564948	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812238A>G	ClinVar
CDH1	P12830	p.Pro372Leu	RCV000567625	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812241C>T	ClinVar
CDH1	P12830	p.Pro372Thr	RCV000566770	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812240C>A	ClinVar
CDH1	P12830	p.Pro372Leu	rs1555515760	missense variant	-	NC_000016.10:g.68812241C>T	-
CDH1	P12830	p.Pro372Thr	rs1555515758	missense variant	-	NC_000016.10:g.68812240C>A	-
CDH1	P12830	p.Pro373Leu	RCV000780090	missense variant	-	NC_000016.10:g.68812244C>T	ClinVar
CDH1	P12830	p.Pro373Leu	RCV000231218	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812244C>T	ClinVar
CDH1	P12830	p.Pro373Leu	RCV000481162	missense variant	-	NC_000016.10:g.68812244C>T	ClinVar
CDH1	P12830	p.Pro373Arg	RCV000478907	missense variant	-	NC_000016.10:g.68812244C>G	ClinVar
CDH1	P12830	p.Pro373Arg	rs587782359	missense variant	-	NC_000016.10:g.68812244C>G	TOPMed,gnomAD
CDH1	P12830	p.Pro373Leu	rs587782359	missense variant	-	NC_000016.10:g.68812244C>T	TOPMed,gnomAD
CDH1	P12830	p.Pro373Leu	RCV000131314	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812244C>T	ClinVar
CDH1	P12830	p.Asn376Ser	rs1169866178	missense variant	-	NC_000016.10:g.68812253A>G	gnomAD
CDH1	P12830	p.Asn376Ser	RCV000563227	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812253A>G	ClinVar
CDH1	P12830	p.Asn376Asp	rs777527338	missense variant	-	NC_000016.10:g.68812252A>G	ExAC,gnomAD
CDH1	P12830	p.Thr378Ter	RCV000492512	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812257del	ClinVar
CDH1	P12830	p.Thr378Pro	rs587781432	missense variant	-	NC_000016.10:g.68812258A>C	ExAC,gnomAD
CDH1	P12830	p.Thr378Pro	RCV000129325	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812258A>C	ClinVar
CDH1	P12830	p.Thr378Pro	RCV000759721	missense variant	-	NC_000016.10:g.68812258A>C	ClinVar
CDH1	P12830	p.Thr378Pro	RCV000526444	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812258A>C	ClinVar
CDH1	P12830	p.Thr379Met	RCV000132465	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68812262C>T	ClinVar
CDH1	P12830	p.Thr379Met	RCV000480330	missense variant	-	NC_000016.10:g.68812262C>T	ClinVar
CDH1	P12830	p.Thr379Met	rs587782856	missense variant	-	NC_000016.10:g.68812262C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr379Met	RCV000227986	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68812262C>T	ClinVar
CDH1	P12830	p.Lys381Arg	RCV000564424	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813317A>G	ClinVar
CDH1	P12830	p.Lys381Asn	RCV000160388	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813318G>C	ClinVar
CDH1	P12830	p.Lys381Glu	rs756938071	missense variant	-	NC_000016.10:g.68813316A>G	ExAC,gnomAD
CDH1	P12830	p.Lys381Arg	rs780867132	missense variant	-	NC_000016.10:g.68813317A>G	ExAC,gnomAD
CDH1	P12830	p.Lys381Asn	RCV000168152	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813318G>C	ClinVar
CDH1	P12830	p.Lys381Asn	RCV000589641	missense variant	-	NC_000016.10:g.68813318G>C	ClinVar
CDH1	P12830	p.Lys381Asn	rs143727462	missense variant	-	NC_000016.10:g.68813318G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Lys381Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68813318G>T	NCI-TCGA
CDH1	P12830	p.Gly382Ter	RCV000581370	frameshift	-	NC_000016.10:g.68813320del	ClinVar
CDH1	P12830	p.Gly382Val	RCV000776872	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813320G>T	ClinVar
CDH1	P12830	p.Gln383His	RCV000233683	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813324G>C	ClinVar
CDH1	P12830	p.Gln383Ter	RCV000763385	nonsense	Familial cancer of breast	NC_000016.10:g.68813322C>T	ClinVar
CDH1	P12830	p.Gln383His	RCV000484108	missense variant	-	NC_000016.10:g.68813324G>C	ClinVar
CDH1	P12830	p.Gln383His	rs786202510	missense variant	-	NC_000016.10:g.68813324G>C	gnomAD
CDH1	P12830	p.Gln383Ter	rs587782798	stop gained	-	NC_000016.10:g.68813322C>T	-
CDH1	P12830	p.Gln383His	RCV000165354	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813324G>C	ClinVar
CDH1	P12830	p.Gln383Ter	RCV000132351	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813322C>T	ClinVar
CDH1	P12830	p.Pro385Thr	RCV000217738	missense variant	-	NC_000016.10:g.68813328C>A	ClinVar
CDH1	P12830	p.Pro385Thr	RCV000639212	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813328C>A	ClinVar
CDH1	P12830	p.Pro385Thr	rs587781612	missense variant	-	NC_000016.10:g.68813328C>A	-
CDH1	P12830	p.Pro385Thr	RCV000129700	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813328C>A	ClinVar
CDH1	P12830	p.Glu386Lys	COSM1302178	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68813331G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Asn387Ser	RCV000774767	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813335A>G	ClinVar
CDH1	P12830	p.Asn387Thr	rs779426744	missense variant	-	NC_000016.10:g.68813335A>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn387Ser	rs779426744	missense variant	-	NC_000016.10:g.68813335A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn387Lys	rs111266450	missense variant	-	NC_000016.10:g.68813336C>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn387Lys	RCV000580859	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813336C>A	ClinVar
CDH1	P12830	p.Asn387Lys	RCV000688765	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813336C>A	ClinVar
CDH1	P12830	p.Glu388Lys	RCV000196601	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813337G>A	ClinVar
CDH1	P12830	p.Glu388Lys	rs372838203	missense variant	-	NC_000016.10:g.68813337G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala389Val	RCV000551677	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813341C>T	ClinVar
CDH1	P12830	p.Ala389Val	rs1555515869	missense variant	-	NC_000016.10:g.68813341C>T	-
CDH1	P12830	p.Asn390Ser	rs964044070	missense variant	-	NC_000016.10:g.68813344A>G	-
CDH1	P12830	p.Asn390Ser	RCV000540402	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813344A>G	ClinVar
CDH1	P12830	p.Asn390Ter	RCV000696664	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813345del	ClinVar
CDH1	P12830	p.Asn390Asp	RCV000525408	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813343A>G	ClinVar
CDH1	P12830	p.Asn390Asp	rs1555515870	missense variant	-	NC_000016.10:g.68813343A>G	-
CDH1	P12830	p.Val391Gly	RCV000565269	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813347T>G	ClinVar
CDH1	P12830	p.Val391Phe	RCV000160389	missense variant	-	NC_000016.10:g.68813346G>T	ClinVar
CDH1	P12830	p.Val391Ala	RCV000555134	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813347T>C	ClinVar
CDH1	P12830	p.Val391Ile	rs556110297	missense variant	-	NC_000016.10:g.68813346G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val391Ile	RCV000409091	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813346G>A	ClinVar
CDH1	P12830	p.Val391Ile	RCV000163940	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813346G>A	ClinVar
CDH1	P12830	p.Val391Ile	RCV000765303	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813346G>A	ClinVar
CDH1	P12830	p.Val391Phe	rs556110297	missense variant	-	NC_000016.10:g.68813346G>T	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val391Ala	rs1555515873	missense variant	-	NC_000016.10:g.68813347T>C	-
CDH1	P12830	p.Val391Ile	RCV000757068	missense variant	-	NC_000016.10:g.68813346G>A	ClinVar
CDH1	P12830	p.Val391Gly	rs1555515873	missense variant	-	NC_000016.10:g.68813347T>G	-
CDH1	P12830	p.Val392Ile	RCV000167905	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813349G>A	ClinVar
CDH1	P12830	p.Val392Ile	RCV000115835	missense variant	-	NC_000016.10:g.68813349G>A	ClinVar
CDH1	P12830	p.Val392Ile	rs141864044	missense variant	-	NC_000016.10:g.68813349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ile393Asn	RCV000130500	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813353T>A	ClinVar
CDH1	P12830	p.Ile393Asn	RCV000679557	missense variant	-	NC_000016.10:g.68813353T>A	ClinVar
CDH1	P12830	p.Ile393Asn	RCV000212361	missense variant	-	NC_000016.10:g.68813353T>A	ClinVar
CDH1	P12830	p.Ile393Asn	RCV000459515	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813353T>A	ClinVar
CDH1	P12830	p.Ile393Val	RCV000561469	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813352A>G	ClinVar
CDH1	P12830	p.Ile393Val	rs1555515877	missense variant	-	NC_000016.10:g.68813352A>G	-
CDH1	P12830	p.Ile393Asn	rs34466743	missense variant	-	NC_000016.10:g.68813353T>A	UniProt,dbSNP
CDH1	P12830	p.Ile393Asn	VAR_048501	missense variant	-	NC_000016.10:g.68813353T>A	UniProt
CDH1	P12830	p.Ile393Asn	rs34466743	missense variant	-	NC_000016.10:g.68813353T>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr394Asn	RCV000761002	missense variant	Medulloblastoma (MDB)	NC_000016.10:g.68813356C>A	ClinVar
CDH1	P12830	p.Thr394Ala	RCV000773939	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813355A>G	ClinVar
CDH1	P12830	p.Thr394Ile	rs1332444039	missense variant	-	NC_000016.10:g.68813356C>T	gnomAD
CDH1	P12830	p.Thr395Ala	RCV000234350	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813358A>G	ClinVar
CDH1	P12830	p.Thr395Ile	RCV000129957	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813359C>T	ClinVar
CDH1	P12830	p.Thr395Ala	RCV000485174	missense variant	-	NC_000016.10:g.68813358A>G	ClinVar
CDH1	P12830	p.Thr395Ala	RCV000221628	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813358A>G	ClinVar
CDH1	P12830	p.Thr395Ile	rs587781751	missense variant	-	NC_000016.10:g.68813359C>T	-
CDH1	P12830	p.Thr395Ala	rs201135424	missense variant	-	NC_000016.10:g.68813358A>G	1000Genomes,ExAC,gnomAD
CDH1	P12830	p.Lys397MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68813360_68813369ACTGAAAGTG>-	NCI-TCGA
CDH1	P12830	p.Asp400Glu	RCV000772375	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813375T>G	ClinVar
CDH1	P12830	p.Asp400Val	COSM4062183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68813374A>T	NCI-TCGA Cosmic
CDH1	P12830	p.Asp400del	VAR_001312	inframe_deletion	-	-	UniProt
CDH1	P12830	p.Ala401Asp	RCV000486692	missense variant	-	NC_000016.10:g.68813377C>A	ClinVar
CDH1	P12830	p.Ala401Val	RCV000569272	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813377C>T	ClinVar
CDH1	P12830	p.Ala401Asp	RCV000639286	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813377C>A	ClinVar
CDH1	P12830	p.Ala401Val	RCV000781218	missense variant	-	NC_000016.10:g.68813377C>T	ClinVar
CDH1	P12830	p.Ala401Val	RCV000528041	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813377C>T	ClinVar
CDH1	P12830	p.Ala401Asp	rs150795245	missense variant	-	NC_000016.10:g.68813377C>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala401Asp	RCV000566539	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813377C>A	ClinVar
CDH1	P12830	p.Ala401Val	RCV000478784	missense variant	-	NC_000016.10:g.68813377C>T	ClinVar
CDH1	P12830	p.Ala401Val	rs150795245	missense variant	-	NC_000016.10:g.68813377C>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala401Thr	rs553525438	missense variant	-	NC_000016.10:g.68813376G>A	1000Genomes
CDH1	P12830	p.Ala401SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68813375_68813376insA	NCI-TCGA
CDH1	P12830	p.Asp402His	COSM143801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68813379G>C	NCI-TCGA Cosmic
CDH1	P12830	p.Ala403Thr	COSM972788	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68813382G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Pro404Ala	RCV000772555	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813385C>G	ClinVar
CDH1	P12830	p.Pro404Ser	rs1334047600	missense variant	-	NC_000016.10:g.68813385C>T	gnomAD
CDH1	P12830	p.Asn405Asp	RCV000564371	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813388A>G	ClinVar
CDH1	P12830	p.Asn405Ser	RCV000120513	missense variant	-	NC_000016.10:g.68813389A>G	ClinVar
CDH1	P12830	p.Asn405Lys	RCV000583178	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813390T>A	ClinVar
CDH1	P12830	p.Asn405Ser	RCV000656821	missense variant	-	NC_000016.10:g.68813389A>G	ClinVar
CDH1	P12830	p.Asn405Asp	RCV000639251	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813388A>G	ClinVar
CDH1	P12830	p.Asn405Asp	rs1336921050	missense variant	-	NC_000016.10:g.68813388A>G	gnomAD
CDH1	P12830	p.Asn405Ser	rs587778175	missense variant	-	NC_000016.10:g.68813389A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn405Lys	rs1555515891	missense variant	-	NC_000016.10:g.68813390T>A	-
CDH1	P12830	p.Asn405Ser	RCV000129759	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813389A>G	ClinVar
CDH1	P12830	p.Asn405Ser	RCV000198487	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813389A>G	ClinVar
CDH1	P12830	p.Thr406Ser	rs1445178301	missense variant	-	NC_000016.10:g.68813391A>T	gnomAD
CDH1	P12830	p.Thr406Ile	rs753770270	missense variant	-	NC_000016.10:g.68813392C>T	ExAC,gnomAD
CDH1	P12830	p.Pro407Leu	rs1060501236	missense variant	-	NC_000016.10:g.68813395C>T	-
CDH1	P12830	p.Pro407Leu	RCV000467830	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813395C>T	ClinVar
CDH1	P12830	p.Pro407Ter	RCV000240878	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813395del	ClinVar
CDH1	P12830	p.Ala408Val	RCV000115836	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813398C>T	ClinVar
CDH1	P12830	p.Ala408Gly	RCV000562112	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813398C>G	ClinVar
CDH1	P12830	p.Ala408Val	rs138135866	missense variant	-	NC_000016.10:g.68813398C>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala408Gly	RCV000204897	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813398C>G	ClinVar
CDH1	P12830	p.Ala408Gly	rs138135866	missense variant	-	NC_000016.10:g.68813398C>G	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala408Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68813397G>C	NCI-TCGA
CDH1	P12830	p.Trp409Arg	RCV000120515	missense variant	-	NC_000016.10:g.68813400T>C	ClinVar
CDH1	P12830	p.Trp409Leu	COSM1479025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68813401G>T	NCI-TCGA Cosmic
CDH1	P12830	p.Trp409Arg	rs587778176	missense variant	-	NC_000016.10:g.68813400T>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu410Lys	rs187906987	missense variant	-	NC_000016.10:g.68813403G>A	1000Genomes
CDH1	P12830	p.Glu410Gln	RCV000228207	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813403G>C	ClinVar
CDH1	P12830	p.Glu410Gln	rs187906987	missense variant	-	NC_000016.10:g.68813403G>C	1000Genomes
CDH1	P12830	p.Val412Ile	RCV000168411	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813409G>A	ClinVar
CDH1	P12830	p.Val412Ile	RCV000130820	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813409G>A	ClinVar
CDH1	P12830	p.Val412Ile	rs587782189	missense variant	-	NC_000016.10:g.68813409G>A	-
CDH1	P12830	p.Thr414Ala	RCV000200507	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813415A>G	ClinVar
CDH1	P12830	p.Thr414Asn	RCV000466208	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813416C>A	ClinVar
CDH1	P12830	p.Thr414Ile	RCV000564236	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813416C>T	ClinVar
CDH1	P12830	p.Thr414Asn	RCV000590115	missense variant	-	NC_000016.10:g.68813416C>A	ClinVar
CDH1	P12830	p.Thr414Ser	RCV000561646	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813416C>G	ClinVar
CDH1	P12830	p.Thr414Asn	rs755571454	missense variant	-	NC_000016.10:g.68813416C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr414Ser	rs755571454	missense variant	-	NC_000016.10:g.68813416C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr414Ala	RCV000565479	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813415A>G	ClinVar
CDH1	P12830	p.Thr414Asn	RCV000164120	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813416C>A	ClinVar
CDH1	P12830	p.Thr414Ala	rs863224723	missense variant	-	NC_000016.10:g.68813415A>G	-
CDH1	P12830	p.Thr414Ile	rs755571454	missense variant	-	NC_000016.10:g.68813416C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ile415Val	RCV000464498	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813418A>G	ClinVar
CDH1	P12830	p.Ile415Thr	RCV000462419	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813419T>C	ClinVar
CDH1	P12830	p.Ile415Thr	RCV000131355	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813419T>C	ClinVar
CDH1	P12830	p.Ile415Ter	RCV000773438	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813409_68813410dup	ClinVar
CDH1	P12830	p.Ile415Thr	rs587782372	missense variant	-	NC_000016.10:g.68813419T>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ile415Val	rs1060501239	missense variant	-	NC_000016.10:g.68813418A>G	gnomAD
CDH1	P12830	p.Ile415Thr	RCV000759725	missense variant	-	NC_000016.10:g.68813419T>C	ClinVar
CDH1	P12830	p.Ile415Ter	RCV000492243	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813410_68813411TA[3]	ClinVar
CDH1	P12830	p.Leu416Phe	rs772622537	missense variant	-	NC_000016.10:g.68813423G>C	ExAC,gnomAD
CDH1	P12830	p.Asn417Ser	RCV000164676	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813425A>G	ClinVar
CDH1	P12830	p.Asn417Lys	RCV000579872	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813426T>A	ClinVar
CDH1	P12830	p.Asn417Ser	RCV000484306	missense variant	-	NC_000016.10:g.68813425A>G	ClinVar
CDH1	P12830	p.Asn417Ser	RCV000766705	missense variant	-	NC_000016.10:g.68813425A>G	ClinVar
CDH1	P12830	p.Asn417Ser	RCV000196904	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813425A>G	ClinVar
CDH1	P12830	p.Asn417Ser	RCV000765304	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813425A>G	ClinVar
CDH1	P12830	p.Asn417Lys	rs1555515902	missense variant	-	NC_000016.10:g.68813426T>A	-
CDH1	P12830	p.Asn417Ser	rs773441320	missense variant	-	NC_000016.10:g.68813425A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp418Ala	rs1379626654	missense variant	-	NC_000016.10:g.68813428A>C	gnomAD
CDH1	P12830	p.Asp418_Phe423del	VAR_001313	inframe_deletion	-	-	UniProt
CDH1	P12830	p.Gly420Asp	RCV000225994	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813434G>A	ClinVar
CDH1	P12830	p.Gly420Asp	rs878854677	missense variant	-	NC_000016.10:g.68813434G>A	gnomAD
CDH1	P12830	p.Gly421Arg	RCV000561551	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813436G>A	ClinVar
CDH1	P12830	p.Gly421Arg	RCV000817343	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813436G>A	ClinVar
CDH1	P12830	p.Gly421Arg	rs747256664	missense variant	-	NC_000016.10:g.68813436G>A	ExAC,gnomAD
CDH1	P12830	p.Phe423Leu	RCV000164628	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813442T>C	ClinVar
CDH1	P12830	p.Phe423Leu	RCV000794163	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813442T>C	ClinVar
CDH1	P12830	p.Phe423Leu	rs786202027	missense variant	-	NC_000016.10:g.68813442T>C	-
CDH1	P12830	p.Val424Ala	RCV000573495	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813446T>C	ClinVar
CDH1	P12830	p.Val424Ala	rs1555515904	missense variant	-	NC_000016.10:g.68813446T>C	-
CDH1	P12830	p.Val425Leu	RCV000552405	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813448G>C	ClinVar
CDH1	P12830	p.Val425Ile	RCV000115837	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813448G>A	ClinVar
CDH1	P12830	p.Val425Ile	rs570930882	missense variant	-	NC_000016.10:g.68813448G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val425Leu	RCV000583760	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813448G>C	ClinVar
CDH1	P12830	p.Val425Leu	rs570930882	missense variant	-	NC_000016.10:g.68813448G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr426Ile	RCV000217681	missense variant	-	NC_000016.10:g.68813452C>T	ClinVar
CDH1	P12830	p.Thr426Ile	RCV000698860	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813452C>T	ClinVar
CDH1	P12830	p.Thr426Ile	rs876658901	missense variant	-	NC_000016.10:g.68813452C>T	-
CDH1	P12830	p.Thr426Ile	RCV000216022	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813452C>T	ClinVar
CDH1	P12830	p.Thr427Ala	rs1064793864	missense variant	-	NC_000016.10:g.68813454A>G	-
CDH1	P12830	p.Thr427Ala	RCV000481994	missense variant	-	NC_000016.10:g.68813454A>G	ClinVar
CDH1	P12830	p.Thr427Ala	RCV000563519	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813454A>G	ClinVar
CDH1	P12830	p.Thr427Ala	RCV000639269	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813454A>G	ClinVar
CDH1	P12830	p.Pro429Leu	rs876658766	missense variant	-	NC_000016.10:g.68813461C>T	-
CDH1	P12830	p.Pro429Leu	RCV000216574	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813461C>T	ClinVar
CDH1	P12830	p.Val430Gly	RCV000160391	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813464T>G	ClinVar
CDH1	P12830	p.Val430Gly	RCV000200679	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813464T>G	ClinVar
CDH1	P12830	p.Val430Gly	RCV000212364	missense variant	-	NC_000016.10:g.68813464T>G	ClinVar
CDH1	P12830	p.Val430Gly	rs730881665	missense variant	-	NC_000016.10:g.68813464T>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val430Ala	RCV000530703	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813464T>C	ClinVar
CDH1	P12830	p.Val430Ala	rs730881665	missense variant	-	NC_000016.10:g.68813464T>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn431GlnPheSerTerUnkUnk	COSM5833147	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68813466_68813467AA>-	NCI-TCGA Cosmic
CDH1	P12830	p.Asn431Lys	rs767350265	missense variant	-	NC_000016.10:g.68813468C>G	ExAC,gnomAD
CDH1	P12830	p.Asn432Lys	RCV000677870	missense variant	Neoplasm of stomach	NC_000016.10:g.68813471C>G	ClinVar
CDH1	P12830	p.Asn432Ser	rs1230641631	missense variant	-	NC_000016.10:g.68813470A>G	gnomAD
CDH1	P12830	p.Asn432Lys	rs187862045	missense variant	-	NC_000016.10:g.68813471C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp433Gly	RCV000196288	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813473A>G	ClinVar
CDH1	P12830	p.Asp433Asn	RCV000115838	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813472G>A	ClinVar
CDH1	P12830	p.Asp433Gly	rs376097289	missense variant	-	NC_000016.10:g.68813473A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp433Asn	rs199886166	missense variant	-	NC_000016.10:g.68813472G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gly434Asp	RCV000546847	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813476G>A	ClinVar
CDH1	P12830	p.Gly434Arg	RCV000130036	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813475G>C	ClinVar
CDH1	P12830	p.Gly434Asp	rs1555515914	missense variant	-	NC_000016.10:g.68813476G>A	-
CDH1	P12830	p.Gly434Arg	rs587781783	missense variant	-	NC_000016.10:g.68813475G>C	TOPMed,gnomAD
CDH1	P12830	p.Gly434Arg	RCV000197039	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813475G>C	ClinVar
CDH1	P12830	p.Ile435Val	RCV000566585	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813478A>G	ClinVar
CDH1	P12830	p.Ile435Val	RCV000519205	missense variant	-	NC_000016.10:g.68813478A>G	ClinVar
CDH1	P12830	p.Ile435Val	RCV000204180	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813478A>G	ClinVar
CDH1	P12830	p.Ile435Val	rs864622644	missense variant	-	NC_000016.10:g.68813478A>G	gnomAD
CDH1	P12830	p.Leu436Met	RCV000557005	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813481T>A	ClinVar
CDH1	P12830	p.Leu436Met	rs1555515917	missense variant	-	NC_000016.10:g.68813481T>A	-
CDH1	P12830	p.Lys437Gln	rs786201841	missense variant	-	NC_000016.10:g.68813484A>C	-
CDH1	P12830	p.Lys437Gln	RCV000531017	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813484A>C	ClinVar
CDH1	P12830	p.Lys437Gln	RCV000164334	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813484A>C	ClinVar
CDH1	P12830	p.Thr438Arg	RCV000215360	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813488C>G	ClinVar
CDH1	P12830	p.Thr438Ter	RCV000657359	frameshift	-	NC_000016.10:g.68813487del	ClinVar
CDH1	P12830	p.Thr438Arg	rs876658218	missense variant	-	NC_000016.10:g.68813488C>G	-
CDH1	P12830	p.Ala439Thr	RCV000164296	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813490G>A	ClinVar
CDH1	P12830	p.Ala439Thr	RCV000168147	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813490G>A	ClinVar
CDH1	P12830	p.Ala439Thr	RCV000218750	missense variant	-	NC_000016.10:g.68813490G>A	ClinVar
CDH1	P12830	p.Ala439Thr	rs758764445	missense variant	-	NC_000016.10:g.68813490G>A	ExAC,gnomAD
CDH1	P12830	p.Lys440Glu	RCV000639244	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813493A>G	ClinVar
CDH1	P12830	p.Lys440Glu	RCV000218352	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813493A>G	ClinVar
CDH1	P12830	p.Lys440Asn	RCV000505716	missense variant	Ectropion inferior cleft lip and or palate (BCDS1)	NC_000016.10:g.68813495G>T	ClinVar
CDH1	P12830	p.Lys440Glu	rs778212100	missense variant	-	NC_000016.10:g.68813493A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Lys440Arg	rs864622165	missense variant	-	NC_000016.10:g.68813494A>G	TOPMed,gnomAD
CDH1	P12830	p.Lys440Arg	RCV000218783	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68813494A>G	ClinVar
CDH1	P12830	p.Lys440Arg	RCV000206579	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68813494A>G	ClinVar
CDH1	P12830	p.Lys440Asn	rs1555515925	missense variant	-	NC_000016.10:g.68813495G>T	-
CDH1	P12830	p.Leu442Ser	RCV000213773	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815519T>C	ClinVar
CDH1	P12830	p.Leu442Phe	RCV000583583	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815520G>C	ClinVar
CDH1	P12830	p.Leu442Ser	RCV000228858	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815519T>C	ClinVar
CDH1	P12830	p.Leu442Ser	rs752074266	missense variant	-	NC_000016.10:g.68815519T>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Leu442Phe	rs1555516080	missense variant	-	NC_000016.10:g.68815520G>C	-
CDH1	P12830	p.Asp443Gly	rs1555516083	missense variant	-	NC_000016.10:g.68815522A>G	-
CDH1	P12830	p.Asp443Gly	RCV000566387	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815522A>G	ClinVar
CDH1	P12830	p.Phe444Leu	RCV000776725	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815526T>A	ClinVar
CDH1	P12830	p.Phe444Leu	rs1392114487	missense variant	-	NC_000016.10:g.68815526T>A	TOPMed
CDH1	P12830	p.Phe444Leu	RCV000560722	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815526T>A	ClinVar
CDH1	P12830	p.Glu445Gln	RCV000205448	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815527G>C	ClinVar
CDH1	P12830	p.Glu445Ala	RCV000115839	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815528A>C	ClinVar
CDH1	P12830	p.Glu445Ala	RCV000212366	missense variant	-	NC_000016.10:g.68815528A>C	ClinVar
CDH1	P12830	p.Glu445Ala	RCV000123235	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815528A>C	ClinVar
CDH1	P12830	p.Glu445Gln	rs864622184	missense variant	-	NC_000016.10:g.68815527G>C	-
CDH1	P12830	p.Glu445Ala	rs374398608	missense variant	-	NC_000016.10:g.68815528A>C	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala446Thr	RCV000217435	missense variant	-	NC_000016.10:g.68815530G>A	ClinVar
CDH1	P12830	p.Ala446Thr	rs876661078	missense variant	-	NC_000016.10:g.68815530G>A	-
CDH1	P12830	p.Ala446Thr	RCV000534484	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815530G>A	ClinVar
CDH1	P12830	p.Lys447Ter	RCV000505868	frameshift	-	NC_000016.10:g.68815535del	ClinVar
CDH1	P12830	p.Lys447Asn	rs767885546	missense variant	-	NC_000016.10:g.68815535G>C	ExAC,gnomAD
CDH1	P12830	p.Gln448Glu	RCV000639223	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815536C>G	ClinVar
CDH1	P12830	p.Gln448Glu	rs1421067964	missense variant	-	NC_000016.10:g.68815536C>G	gnomAD
CDH1	P12830	p.Gln449Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68815539C>A	NCI-TCGA
CDH1	P12830	p.Tyr450Asn	RCV000780092	missense variant	-	NC_000016.10:g.68815542T>A	ClinVar
CDH1	P12830	p.Tyr450Asn	RCV000486827	missense variant	-	NC_000016.10:g.68815542T>A	ClinVar
CDH1	P12830	p.Tyr450Asn	RCV000165468	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815542T>A	ClinVar
CDH1	P12830	p.Tyr450Asn	RCV000167939	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815542T>A	ClinVar
CDH1	P12830	p.Tyr450Asp	RCV000639277	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815542T>G	ClinVar
CDH1	P12830	p.Tyr450Asn	rs750741214	missense variant	-	NC_000016.10:g.68815542T>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Tyr450Asp	rs750741214	missense variant	-	NC_000016.10:g.68815542T>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ile451Leu	RCV000132204	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815545A>C	ClinVar
CDH1	P12830	p.Ile451Leu	RCV000586976	missense variant	-	NC_000016.10:g.68815545A>C	ClinVar
CDH1	P12830	p.Ile451Leu	RCV000475311	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815545A>C	ClinVar
CDH1	P12830	p.Ile451Leu	rs377416092	missense variant	-	NC_000016.10:g.68815545A>C	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Leu452Ter	RCV000256004	frameshift	-	NC_000016.10:g.68815548_68815551del	ClinVar
CDH1	P12830	p.Val454Ile	RCV000212369	missense variant	-	NC_000016.10:g.68815554G>A	ClinVar
CDH1	P12830	p.Val454Ile	RCV000115840	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815554G>A	ClinVar
CDH1	P12830	p.Val454Ile	RCV000226677	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815554G>A	ClinVar
CDH1	P12830	p.Val454Leu	rs587780112	missense variant	-	NC_000016.10:g.68815554G>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val454Ile	rs587780112	missense variant	-	NC_000016.10:g.68815554G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val454Leu	RCV000581224	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815554G>C	ClinVar
CDH1	P12830	p.Val454del	VAR_079394	inframe_deletion	Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580]	-	UniProt
CDH1	P12830	p.Ala455Ser	RCV000222712	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815557G>T	ClinVar
CDH1	P12830	p.Ala455Thr	RCV000702799	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815557G>A	ClinVar
CDH1	P12830	p.Ala455Thr	rs876659762	missense variant	-	NC_000016.10:g.68815557G>A	-
CDH1	P12830	p.Ala455Ser	rs876659762	missense variant	-	NC_000016.10:g.68815557G>T	-
CDH1	P12830	p.Val456Met	rs974965262	missense variant	-	NC_000016.10:g.68815560G>A	TOPMed
CDH1	P12830	p.Val456Met	RCV000549556	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815560G>A	ClinVar
CDH1	P12830	p.Thr457Met	RCV000765305	missense variant	Familial cancer of breast	NC_000016.10:g.68815564C>T	ClinVar
CDH1	P12830	p.Thr457Met	RCV000657011	missense variant	-	NC_000016.10:g.68815564C>T	ClinVar
CDH1	P12830	p.Thr457Met	RCV000229532	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815564C>T	ClinVar
CDH1	P12830	p.Thr457Met	rs587778170	missense variant	-	NC_000016.10:g.68815564C>T	ExAC,gnomAD
CDH1	P12830	p.Thr457Met	RCV000219561	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815564C>T	ClinVar
CDH1	P12830	p.Val459Ala	rs1555516109	missense variant	-	NC_000016.10:g.68815570T>C	-
CDH1	P12830	p.Val459Met	RCV000774023	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815569G>A	ClinVar
CDH1	P12830	p.Val459Ala	RCV000572988	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815570T>C	ClinVar
CDH1	P12830	p.Val460Leu	COSM6079791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68815572G>T	NCI-TCGA Cosmic
CDH1	P12830	p.Pro461Leu	RCV000216598	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815576C>T	ClinVar
CDH1	P12830	p.Pro461Ter	RCV000773621	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815574del	ClinVar
CDH1	P12830	p.Pro461Ser	COSM3511253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68815575C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Pro461Thr	rs1355592880	missense variant	-	NC_000016.10:g.68815575C>A	gnomAD
CDH1	P12830	p.Pro461Leu	rs876659268	missense variant	-	NC_000016.10:g.68815576C>T	-
CDH1	P12830	p.Phe462Ser	RCV000132005	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815579T>C	ClinVar
CDH1	P12830	p.Phe462LeuPheSerTerUnkUnk	COSM4613898	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68815577T>-	NCI-TCGA Cosmic
CDH1	P12830	p.Phe462Ser	rs587782622	missense variant	-	NC_000016.10:g.68815579T>C	-
CDH1	P12830	p.Glu463Gln	VAR_001314	Missense	-	-	UniProt
CDH1	P12830	p.Val464Ter	RCV000574458	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815584del	ClinVar
CDH1	P12830	p.Ser465Pro	rs776588895	missense variant	-	NC_000016.10:g.68815587T>C	ExAC,gnomAD
CDH1	P12830	p.Thr468Ile	RCV000800375	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815597C>T	ClinVar
CDH1	P12830	p.Thr468Ile	RCV000219425	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815597C>T	ClinVar
CDH1	P12830	p.Thr468Ala	RCV000164713	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815596A>G	ClinVar
CDH1	P12830	p.Thr468Ala	rs745617489	missense variant	-	NC_000016.10:g.68815596A>G	ExAC,gnomAD
CDH1	P12830	p.Thr468Ile	rs876659141	missense variant	-	NC_000016.10:g.68815597C>T	-
CDH1	P12830	p.Thr470Ile	RCV000115841	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815603C>T	ClinVar
CDH1	P12830	p.Thr470Ile	RCV000200980	missense variant	-	NC_000016.10:g.68815603C>T	ClinVar
CDH1	P12830	p.Thr470Ter	RCV000492349	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815602del	ClinVar
CDH1	P12830	p.Thr470Ile	rs370864592	missense variant	-	NC_000016.10:g.68815603C>T	UniProt,dbSNP
CDH1	P12830	p.Thr470Ile	VAR_001315	missense variant	-	NC_000016.10:g.68815603C>T	UniProt
CDH1	P12830	p.Thr470Ile	rs370864592	missense variant	-	NC_000016.10:g.68815603C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val473Ile	RCV000212370	missense variant	-	NC_000016.10:g.68815611G>A	ClinVar
CDH1	P12830	p.Val473Ile	RCV000198903	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815611G>A	ClinVar
CDH1	P12830	p.Val473Ile	RCV000780096	missense variant	-	NC_000016.10:g.68815611G>A	ClinVar
CDH1	P12830	p.Val473Ile	rs36087757	missense variant	-	NC_000016.10:g.68815611G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val473Ile	rs36087757	missense variant	-	NC_000016.10:g.68815611G>A	UniProt,dbSNP
CDH1	P12830	p.Val473Ile	VAR_048502	missense variant	-	NC_000016.10:g.68815611G>A	UniProt
CDH1	P12830	p.Val473Asp	VAR_001317	Missense	-	-	UniProt
CDH1	P12830	p.Thr474Ile	RCV000547309	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815615C>T	ClinVar
CDH1	P12830	p.Thr474Ile	RCV000564220	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815615C>T	ClinVar
CDH1	P12830	p.Thr474Ala	RCV000570136	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815614A>G	ClinVar
CDH1	P12830	p.Thr474Ala	rs773858736	missense variant	-	NC_000016.10:g.68815614A>G	ExAC,gnomAD
CDH1	P12830	p.Thr474Ile	rs1555516124	missense variant	-	NC_000016.10:g.68815615C>T	-
CDH1	P12830	p.Val475Met	RCV000130629	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815617G>A	ClinVar
CDH1	P12830	p.Val475Met	RCV000470134	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815617G>A	ClinVar
CDH1	P12830	p.Val475Met	rs587782113	missense variant	-	NC_000016.10:g.68815617G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val475Ala	rs1060501217	missense variant	-	NC_000016.10:g.68815618T>C	-
CDH1	P12830	p.Val475Ala	RCV000475500	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815618T>C	ClinVar
CDH1	P12830	p.Asp476Ala	rs1177546897	missense variant	-	NC_000016.10:g.68815621A>C	gnomAD
CDH1	P12830	p.Leu478Pro	RCV000131315	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815627T>C	ClinVar
CDH1	P12830	p.Leu478Pro	RCV000702004	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815627T>C	ClinVar
CDH1	P12830	p.Leu478Pro	rs35520415	missense variant	-	NC_000016.10:g.68815627T>C	-
CDH1	P12830	p.Asp479Asn	RCV000579753	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815629G>A	ClinVar
CDH1	P12830	p.Asp479Gly	RCV000540606	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815630A>G	ClinVar
CDH1	P12830	p.Asp479Gly	RCV000567936	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815630A>G	ClinVar
CDH1	P12830	p.Asp479Gly	rs1555516131	missense variant	-	NC_000016.10:g.68815630A>G	-
CDH1	P12830	p.Asp479Asn	RCV000582796	missense variant	-	NC_000016.10:g.68815629G>A	ClinVar
CDH1	P12830	p.Asp479His	rs587782796	missense variant	-	NC_000016.10:g.68815629G>C	gnomAD
CDH1	P12830	p.Asp479Asn	rs587782796	missense variant	-	NC_000016.10:g.68815629G>A	gnomAD
CDH1	P12830	p.Asp479His	RCV000132346	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815629G>C	ClinVar
CDH1	P12830	p.Asp479Asn	RCV000525890	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815629G>A	ClinVar
CDH1	P12830	p.Asp479AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68815612_68815613insCACCGTGGATGTGCTGG	NCI-TCGA
CDH1	P12830	p.Val480Met	RCV000165603	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815632G>A	ClinVar
CDH1	P12830	p.Val480Met	rs786202675	missense variant	-	NC_000016.10:g.68815632G>A	-
CDH1	P12830	p.Val480Met	RCV000801471	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815632G>A	ClinVar
CDH1	P12830	p.Asn481Ter	RCV000584079	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815637del	ClinVar
CDH1	P12830	p.Asn481His	RCV000582812	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815635A>C	ClinVar
CDH1	P12830	p.Asn481His	rs1555516133	missense variant	-	NC_000016.10:g.68815635A>C	-
CDH1	P12830	p.Glu482Asp	RCV000216175	missense variant	-	NC_000016.10:g.68815640A>T	ClinVar
CDH1	P12830	p.Glu482Lys	RCV000561678	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815638G>A	ClinVar
CDH1	P12830	p.Glu482Asp	rs863224724	missense variant	-	NC_000016.10:g.68815640A>T	TOPMed,gnomAD
CDH1	P12830	p.Glu482Lys	rs1555516138	missense variant	-	NC_000016.10:g.68815638G>A	-
CDH1	P12830	p.Glu482Asp	RCV000196042	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815640A>T	ClinVar
CDH1	P12830	p.Ile485Thr	RCV000575121	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815648T>C	ClinVar
CDH1	P12830	p.Ile485Thr	rs587783049	missense variant	-	NC_000016.10:g.68815648T>C	TOPMed
CDH1	P12830	p.Ile485Val	RCV000569112	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815647A>G	ClinVar
CDH1	P12830	p.Ile485Val	rs1555516140	missense variant	-	NC_000016.10:g.68815647A>G	-
CDH1	P12830	p.Ile485Ser	rs587783049	missense variant	-	NC_000016.10:g.68815648T>G	TOPMed
CDH1	P12830	p.Ile485Ser	RCV000144592	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815648T>G	ClinVar
CDH1	P12830	p.Ile485Thr	RCV000780088	missense variant	-	NC_000016.10:g.68815648T>C	ClinVar
CDH1	P12830	p.Phe486Ile	rs1331977824	missense variant	-	NC_000016.10:g.68815650T>A	gnomAD
CDH1	P12830	p.Phe486Val	rs1331977824	missense variant	-	NC_000016.10:g.68815650T>G	gnomAD
CDH1	P12830	p.Val487Ter	RCV000687067	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815652_68815653TG[1]	ClinVar
CDH1	P12830	p.Val487Ala	VAR_008713	Missense	Hereditary diffuse gastric cancer (HDGC) [MIM:137215]	-	UniProt
CDH1	P12830	p.Pro488Ala	RCV000705192	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815656C>G	ClinVar
CDH1	P12830	p.Pro488Ser	RCV000524883	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815656C>T	ClinVar
CDH1	P12830	p.Pro488Ser	rs1555516144	missense variant	-	NC_000016.10:g.68815656C>T	-
CDH1	P12830	p.Pro489Ser	rs786202508	missense variant	-	NC_000016.10:g.68815659C>T	-
CDH1	P12830	p.Pro489Ser	RCV000707373	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815659C>T	ClinVar
CDH1	P12830	p.Pro489Ser	RCV000165352	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815659C>T	ClinVar
CDH1	P12830	p.Pro489Leu	RCV000230192	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815660C>T	ClinVar
CDH1	P12830	p.Pro489Leu	rs766713582	missense variant	-	NC_000016.10:g.68815660C>T	ExAC,gnomAD
CDH1	P12830	p.Glu490Lys	RCV000539873	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815662G>A	ClinVar
CDH1	P12830	p.Glu490Lys	RCV000565014	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815662G>A	ClinVar
CDH1	P12830	p.Glu490Lys	rs1555516147	missense variant	-	NC_000016.10:g.68815662G>A	-
CDH1	P12830	p.Arg492Ter	RCV000657196	frameshift	-	NC_000016.10:g.68815666_68815667AG[2]	ClinVar
CDH1	P12830	p.Arg492Thr	RCV000212371	missense variant	-	NC_000016.10:g.68815669G>C	ClinVar
CDH1	P12830	p.Arg492Ter	RCV000213871	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815666_68815667AG[2]	ClinVar
CDH1	P12830	p.Arg492Thr	RCV000167912	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815669G>C	ClinVar
CDH1	P12830	p.Arg492Thr	rs587781286	missense variant	-	NC_000016.10:g.68815669G>C	gnomAD
CDH1	P12830	p.Arg492Ter	RCV000554611	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815666_68815667AG[2]	ClinVar
CDH1	P12830	p.Arg492Lys	RCV000772963	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815669G>A	ClinVar
CDH1	P12830	p.Arg492Thr	RCV000128970	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815669G>C	ClinVar
CDH1	P12830	p.Val493Ala	RCV000165202	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815672T>C	ClinVar
CDH1	P12830	p.Val493Leu	RCV000206225	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815671G>C	ClinVar
CDH1	P12830	p.Val493Leu	RCV000221777	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815671G>C	ClinVar
CDH1	P12830	p.Val493Leu	RCV000160392	missense variant	-	NC_000016.10:g.68815671G>C	ClinVar
CDH1	P12830	p.Val493Ala	rs786202407	missense variant	-	NC_000016.10:g.68815672T>C	TOPMed,gnomAD
CDH1	P12830	p.Val493Leu	rs730881666	missense variant	-	NC_000016.10:g.68815671G>C	ExAC,gnomAD
CDH1	P12830	p.Val493Gly	rs786202407	missense variant	-	NC_000016.10:g.68815672T>G	TOPMed,gnomAD
CDH1	P12830	p.Glu494Gly	RCV000639235	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815675A>G	ClinVar
CDH1	P12830	p.Glu494Ter	RCV000574013	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815674G>T	ClinVar
CDH1	P12830	p.Glu494Ter	rs778871891	stop gained	-	NC_000016.10:g.68815674G>T	ExAC,gnomAD
CDH1	P12830	p.Glu494Gln	rs778871891	missense variant	-	NC_000016.10:g.68815674G>C	ExAC,gnomAD
CDH1	P12830	p.Glu494Gly	rs1555516153	missense variant	-	NC_000016.10:g.68815675A>G	-
CDH1	P12830	p.Val495Ala	rs786202482	missense variant	-	NC_000016.10:g.68815678T>C	TOPMed,gnomAD
CDH1	P12830	p.Val495Ala	RCV000639252	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815678T>C	ClinVar
CDH1	P12830	p.Val495Ala	RCV000165313	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815678T>C	ClinVar
CDH1	P12830	p.Val495Leu	rs931521632	missense variant	-	NC_000016.10:g.68815677G>T	TOPMed
CDH1	P12830	p.Val495Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68815678T>G	NCI-TCGA
CDH1	P12830	p.Glu497Ter	RCV000639261	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815682_68815688del	ClinVar
CDH1	P12830	p.Glu497Ter	RCV000222658	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815682_68815688del	ClinVar
CDH1	P12830	p.Glu497Lys	RCV000678466	missense variant	-	NC_000016.10:g.68815683G>A	ClinVar
CDH1	P12830	p.Glu497Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68815683G>T	NCI-TCGA
CDH1	P12830	p.Asp498Ala	RCV000570338	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815687A>C	ClinVar
CDH1	P12830	p.Asp498Ala	RCV000539949	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815687A>C	ClinVar
CDH1	P12830	p.Asp498Ala	RCV000216744	missense variant	-	NC_000016.10:g.68815687A>C	ClinVar
CDH1	P12830	p.Asp498Ala	rs876661065	missense variant	-	NC_000016.10:g.68815687A>C	gnomAD
CDH1	P12830	p.Asp498Glu	rs56836234	missense variant	-	NC_000016.10:g.68815688C>A	ExAC,gnomAD
CDH1	P12830	p.Phe499Ser	RCV000569748	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815690T>C	ClinVar
CDH1	P12830	p.Phe499LeuPheSerTerUnkUnk	COSM1479026	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68815690_68815691insG	NCI-TCGA Cosmic
CDH1	P12830	p.Phe499Ser	rs1555516163	missense variant	-	NC_000016.10:g.68815690T>C	-
CDH1	P12830	p.Val501Met	RCV000478959	missense variant	-	NC_000016.10:g.68815695G>A	ClinVar
CDH1	P12830	p.Val501Met	RCV000167909	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815695G>A	ClinVar
CDH1	P12830	p.Val501Met	rs368690400	missense variant	-	NC_000016.10:g.68815695G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val501Met	RCV000131439	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815695G>A	ClinVar
CDH1	P12830	p.Val501Met	RCV000585007	missense variant	-	NC_000016.10:g.68815695G>A	ClinVar
CDH1	P12830	p.Val501Leu	rs368690400	missense variant	-	NC_000016.10:g.68815695G>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gly502Ter	RCV000210159	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815699del	ClinVar
CDH1	P12830	p.Gln503Ter	COSM435600	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68815701C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Gln503His	rs876659548	missense variant	-	NC_000016.10:g.68815703G>C	-
CDH1	P12830	p.Gln503His	RCV000214119	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815703G>C	ClinVar
CDH1	P12830	p.Glu504Lys	RCV000570243	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815704G>A	ClinVar
CDH1	P12830	p.Glu504Lys	rs1555516170	missense variant	-	NC_000016.10:g.68815704G>A	-
CDH1	P12830	p.Ile505SerPheSerTerUnkUnk	COSM435601	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68815705A>-	NCI-TCGA Cosmic
CDH1	P12830	p.Thr506Ala	RCV000217270	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815710A>G	ClinVar
CDH1	P12830	p.Thr506Ala	RCV000554984	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815710A>G	ClinVar
CDH1	P12830	p.Thr506Ala	rs114885938	missense variant	-	NC_000016.10:g.68815710A>G	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ser507Thr	rs1402430481	missense variant	-	NC_000016.10:g.68815713T>A	gnomAD
CDH1	P12830	p.Ser507Pro	rs1402430481	missense variant	-	NC_000016.10:g.68815713T>C	gnomAD
CDH1	P12830	p.Tyr508Asn	RCV000533273	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815716T>A	ClinVar
CDH1	P12830	p.Tyr508Ser	rs1240947148	missense variant	-	NC_000016.10:g.68815717A>C	TOPMed
CDH1	P12830	p.Tyr508Asn	rs1555516173	missense variant	-	NC_000016.10:g.68815716T>A	-
CDH1	P12830	p.Thr509Asn	RCV000232572	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815720C>A	ClinVar
CDH1	P12830	p.Thr509Ile	rs771551231	missense variant	-	NC_000016.10:g.68815720C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr509Asn	RCV000571668	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815720C>A	ClinVar
CDH1	P12830	p.Thr509Pro	RCV000568081	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815719A>C	ClinVar
CDH1	P12830	p.Thr509Asn	RCV000679562	missense variant	-	NC_000016.10:g.68815720C>A	ClinVar
CDH1	P12830	p.Thr509Ile	RCV000482892	missense variant	-	NC_000016.10:g.68815720C>T	ClinVar
CDH1	P12830	p.Thr509Ser	RCV000218463	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815720C>G	ClinVar
CDH1	P12830	p.Thr509Ser	rs771551231	missense variant	-	NC_000016.10:g.68815720C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr509Asn	rs771551231	missense variant	-	NC_000016.10:g.68815720C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr509Ala	rs761356661	missense variant	-	NC_000016.10:g.68815719A>G	ExAC,gnomAD
CDH1	P12830	p.Thr509Pro	rs761356661	missense variant	-	NC_000016.10:g.68815719A>C	ExAC,gnomAD
CDH1	P12830	p.Ala510Ser	rs1273354402	missense variant	-	NC_000016.10:g.68815722G>T	gnomAD
CDH1	P12830	p.Ala510Thr	COSM1379179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68815722G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Ala510Val	rs1344960746	missense variant	-	NC_000016.10:g.68815723C>T	gnomAD
CDH1	P12830	p.Gln511His	RCV000475195	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815727G>T	ClinVar
CDH1	P12830	p.Gln511His	RCV000215502	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815727G>T	ClinVar
CDH1	P12830	p.Gln511His	RCV000759009	missense variant	-	NC_000016.10:g.68815727G>T	ClinVar
CDH1	P12830	p.Gln511Arg	RCV000584335	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815726A>G	ClinVar
CDH1	P12830	p.Gln511Arg	rs1555516178	missense variant	-	NC_000016.10:g.68815726A>G	-
CDH1	P12830	p.Gln511His	rs876658342	missense variant	-	NC_000016.10:g.68815727G>T	-
CDH1	P12830	p.Gln511Ter	RCV000492683	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815725C>T	ClinVar
CDH1	P12830	p.Gln511Ter	RCV000810270	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815725C>T	ClinVar
CDH1	P12830	p.Gln511Ter	rs1131690810	stop gained	-	NC_000016.10:g.68815725C>T	-
CDH1	P12830	p.Glu512Ter	COSM3818353	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68815728G>T	NCI-TCGA Cosmic
CDH1	P12830	p.Glu512Lys	rs876659244	missense variant	-	NC_000016.10:g.68815728G>A	-
CDH1	P12830	p.Glu512Lys	RCV000220568	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815728G>A	ClinVar
CDH1	P12830	p.Glu512Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68815729A>T	NCI-TCGA
CDH1	P12830	p.Pro513Leu	RCV000566094	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815732C>T	ClinVar
CDH1	P12830	p.Pro513Leu	rs1555516185	missense variant	-	NC_000016.10:g.68815732C>T	-
CDH1	P12830	p.Asp514Glu	RCV000586505	missense variant	-	NC_000016.10:g.68815736C>G	ClinVar
CDH1	P12830	p.Thr515Ile	rs1555516188	missense variant	-	NC_000016.10:g.68815738C>T	-
CDH1	P12830	p.Thr515Ile	RCV000639273	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815738C>T	ClinVar
CDH1	P12830	p.Thr515Ter	COSM5833148	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68815738_68815739insATA	NCI-TCGA Cosmic
CDH1	P12830	p.Thr515Ile	RCV000772954	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815738C>T	ClinVar
CDH1	P12830	p.Thr515Ser	RCV000699314	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815737A>T	ClinVar
CDH1	P12830	p.Thr515Ala	rs1219371636	missense variant	-	NC_000016.10:g.68815737A>G	gnomAD
CDH1	P12830	p.Met517Val	RCV000221624	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815743A>G	ClinVar
CDH1	P12830	p.Met517Thr	RCV000213736	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815744T>C	ClinVar
CDH1	P12830	p.Met517Val	RCV000794319	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815743A>G	ClinVar
CDH1	P12830	p.Met517Thr	rs786203656	missense variant	-	NC_000016.10:g.68815744T>C	-
CDH1	P12830	p.Met517Lys	RCV000543755	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815744T>A	ClinVar
CDH1	P12830	p.Met517Lys	RCV000167059	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815744T>A	ClinVar
CDH1	P12830	p.Met517Val	rs876658146	missense variant	-	NC_000016.10:g.68815743A>G	-
CDH1	P12830	p.Met517Lys	rs786203656	missense variant	-	NC_000016.10:g.68815744T>A	-
CDH1	P12830	p.Met517Arg	rs786203656	missense variant	-	NC_000016.10:g.68815744T>G	-
CDH1	P12830	p.Met517Arg	RCV000216206	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815744T>G	ClinVar
CDH1	P12830	p.Glu518AsnPheSerTerUnk	COSM435603	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68815745G>-	NCI-TCGA Cosmic
CDH1	P12830	p.Gln519Lys	rs773763544	missense variant	-	NC_000016.10:g.68815749C>A	ExAC,gnomAD
CDH1	P12830	p.Lys520Glu	rs1555516192	missense variant	-	NC_000016.10:g.68815752A>G	-
CDH1	P12830	p.Lys520Glu	RCV000558398	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815752A>G	ClinVar
CDH1	P12830	p.Lys520Thr	RCV000772809	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815753A>C	ClinVar
CDH1	P12830	p.Ile521Val	RCV000772110	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815755A>G	ClinVar
CDH1	P12830	p.Ile521Met	rs761162838	missense variant	-	NC_000016.10:g.68815757A>G	ExAC,gnomAD
CDH1	P12830	p.Thr522Lys	RCV000566861	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815759C>A	ClinVar
CDH1	P12830	p.Thr522Ile	rs863224725	missense variant	-	NC_000016.10:g.68815759C>T	gnomAD
CDH1	P12830	p.Thr522Ile	RCV000590454	missense variant	-	NC_000016.10:g.68815759C>T	ClinVar
CDH1	P12830	p.Thr522Lys	rs863224725	missense variant	-	NC_000016.10:g.68815759C>A	gnomAD
CDH1	P12830	p.Thr522Ile	RCV000448662	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68815759C>T	ClinVar
CDH1	P12830	p.Thr522Ile	RCV000197897	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68815759C>T	ClinVar
CDH1	P12830	p.Thr522IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68815757_68815758AA>-	NCI-TCGA
CDH1	P12830	p.Tyr523Ter	RCV000561178	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819283T>A	ClinVar
CDH1	P12830	p.Tyr523Ter	RCV000702111	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819283T>A	ClinVar
CDH1	P12830	p.Tyr523His	RCV000582485	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819281T>C	ClinVar
CDH1	P12830	p.Tyr523Cys	RCV000129330	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819282A>G	ClinVar
CDH1	P12830	p.Tyr523Cys	RCV000206211	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819282A>G	ClinVar
CDH1	P12830	p.Tyr523Cys	RCV000587509	missense variant	-	NC_000016.10:g.68819282A>G	ClinVar
CDH1	P12830	p.Tyr523Ter	rs876659716	stop gained	-	NC_000016.10:g.68819283T>A	gnomAD
CDH1	P12830	p.Tyr523His	rs1473643691	missense variant	-	NC_000016.10:g.68819281T>C	gnomAD
CDH1	P12830	p.Tyr523Cys	RCV000235156	missense variant	-	NC_000016.10:g.68819282A>G	ClinVar
CDH1	P12830	p.Tyr523Cys	rs553907248	missense variant	-	NC_000016.10:g.68819282A>G	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg524Trp	RCV000215522	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819284C>T	ClinVar
CDH1	P12830	p.Arg524Gly	RCV000163581	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819284C>G	ClinVar
CDH1	P12830	p.Arg524Gln	RCV000216734	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819285G>A	ClinVar
CDH1	P12830	p.Arg524Gln	rs761180883	missense variant	-	NC_000016.10:g.68819285G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg524Trp	RCV000481206	missense variant	-	NC_000016.10:g.68819284C>T	ClinVar
CDH1	P12830	p.Arg524Gly	RCV000205600	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819284C>G	ClinVar
CDH1	P12830	p.Arg524Gln	RCV000468047	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819285G>A	ClinVar
CDH1	P12830	p.Arg524Trp	RCV000475606	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819284C>T	ClinVar
CDH1	P12830	p.Arg524Gly	rs373605261	missense variant	-	NC_000016.10:g.68819284C>G	ESP,TOPMed,gnomAD
CDH1	P12830	p.Arg524Trp	rs373605261	missense variant	-	NC_000016.10:g.68819284C>T	ESP,TOPMed,gnomAD
CDH1	P12830	p.Trp526Ter	RCV000255230	nonsense	-	NC_000016.10:g.68819292G>A	ClinVar
CDH1	P12830	p.Trp526Ter	rs886039590	stop gained	-	NC_000016.10:g.68819292G>A	-
CDH1	P12830	p.Asp528Asn	rs1204671808	missense variant	-	NC_000016.10:g.68819296G>A	TOPMed
CDH1	P12830	p.Thr529Pro	RCV000691223	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819299A>C	ClinVar
CDH1	P12830	p.Thr529Pro	rs776890776	missense variant	-	NC_000016.10:g.68819299A>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr529Ala	rs776890776	missense variant	-	NC_000016.10:g.68819299A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr529Ala	RCV000562109	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819299A>G	ClinVar
CDH1	P12830	p.Thr529Pro	RCV000165708	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819299A>C	ClinVar
CDH1	P12830	p.Ala530Ter	RCV000492449	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819301dup	ClinVar
CDH1	P12830	p.Ala530Ter	RCV000478712	frameshift	-	NC_000016.10:g.68819301dup	ClinVar
CDH1	P12830	p.Ala530Pro	RCV000639222	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819302G>C	ClinVar
CDH1	P12830	p.Ala530Pro	rs1555516534	missense variant	-	NC_000016.10:g.68819302G>C	-
CDH1	P12830	p.Ala530Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68819303C>T	NCI-TCGA
CDH1	P12830	p.Asn531Ter	RCV000520434	frameshift	-	NC_000016.10:g.68819304dup	ClinVar
CDH1	P12830	p.Glu534Gly	rs765495095	missense variant	-	NC_000016.10:g.68819315A>G	ExAC,gnomAD
CDH1	P12830	p.Glu534Asp	rs753031606	missense variant	-	NC_000016.10:g.68819316G>C	ExAC,gnomAD
CDH1	P12830	p.Ile535Phe	RCV000487422	missense variant	-	NC_000016.10:g.68819317A>T	ClinVar
CDH1	P12830	p.Ile535Leu	RCV000569091	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819317A>C	ClinVar
CDH1	P12830	p.Ile535Phe	RCV000571099	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819317A>T	ClinVar
CDH1	P12830	p.Ile535Leu	rs144519845	missense variant	-	NC_000016.10:g.68819317A>C	ESP,ExAC,TOPMed
CDH1	P12830	p.Ile535Phe	rs144519845	missense variant	-	NC_000016.10:g.68819317A>T	ESP,ExAC,TOPMed
CDH1	P12830	p.Ile535Val	rs144519845	missense variant	-	NC_000016.10:g.68819317A>G	ESP,ExAC,TOPMed
CDH1	P12830	p.Asn536Asp	rs764282860	missense variant	-	NC_000016.10:g.68819320A>G	ExAC
CDH1	P12830	p.Pro537Leu	RCV000160393	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819324C>T	ClinVar
CDH1	P12830	p.Pro537Leu	RCV000212373	missense variant	-	NC_000016.10:g.68819324C>T	ClinVar
CDH1	P12830	p.Pro537Leu	RCV000234355	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819324C>T	ClinVar
CDH1	P12830	p.Pro537Leu	rs730881667	missense variant	-	NC_000016.10:g.68819324C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp538Tyr	RCV000679563	missense variant	-	NC_000016.10:g.68819326G>T	ClinVar
CDH1	P12830	p.Asp538Tyr	RCV000573781	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819326G>T	ClinVar
CDH1	P12830	p.Asp538Ter	RCV000504654	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819326del	ClinVar
CDH1	P12830	p.Asp538Tyr	rs756154596	missense variant	-	NC_000016.10:g.68819326G>T	ExAC,gnomAD
CDH1	P12830	p.Asp538Val	rs863224726	missense variant	-	NC_000016.10:g.68819327A>T	-
CDH1	P12830	p.Asp538Val	RCV000198874	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819327A>T	ClinVar
CDH1	P12830	p.Thr539Ala	RCV000206314	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819329A>G	ClinVar
CDH1	P12830	p.Thr539Ala	rs864622070	missense variant	-	NC_000016.10:g.68819329A>G	-
CDH1	P12830	p.Ala541Val	rs730881668	missense variant	-	NC_000016.10:g.68819336C>T	ExAC,gnomAD
CDH1	P12830	p.Ala541Val	RCV000160394	missense variant	-	NC_000016.10:g.68819336C>T	ClinVar
CDH1	P12830	p.Ser543Cys	RCV000562348	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819342C>G	ClinVar
CDH1	P12830	p.Ser543Phe	rs148400889	missense variant	-	NC_000016.10:g.68819342C>T	ESP,TOPMed,gnomAD
CDH1	P12830	p.Ser543Cys	rs148400889	missense variant	-	NC_000016.10:g.68819342C>G	ESP,TOPMed,gnomAD
CDH1	P12830	p.Thr544Ala	RCV000581941	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819344A>G	ClinVar
CDH1	P12830	p.Thr544Ala	rs786202107	missense variant	-	NC_000016.10:g.68819344A>G	-
CDH1	P12830	p.Thr544Ser	rs786202107	missense variant	-	NC_000016.10:g.68819344A>T	-
CDH1	P12830	p.Thr544Ser	RCV000164755	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819344A>T	ClinVar
CDH1	P12830	p.Thr544Ala	RCV000585989	missense variant	-	NC_000016.10:g.68819344A>G	ClinVar
CDH1	P12830	p.Arg545Gly	RCV000195967	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819347C>G	ClinVar
CDH1	P12830	p.Arg545Trp	RCV000639204	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819347C>T	ClinVar
CDH1	P12830	p.Arg545Trp	RCV000515474	missense variant	Familial cancer of breast	NC_000016.10:g.68819347C>T	ClinVar
CDH1	P12830	p.Arg545Gln	RCV000570962	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819348G>A	ClinVar
CDH1	P12830	p.Arg545Leu	RCV000792294	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819348G>T	ClinVar
CDH1	P12830	p.Arg545Gln	RCV000587960	missense variant	-	NC_000016.10:g.68819348G>A	ClinVar
CDH1	P12830	p.Arg545Gln	RCV000809596	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819348G>A	ClinVar
CDH1	P12830	p.Arg545Gly	rs863224727	missense variant	-	NC_000016.10:g.68819347C>G	TOPMed,gnomAD
CDH1	P12830	p.Arg545Leu	rs587780115	missense variant	-	NC_000016.10:g.68819348G>T	ExAC,gnomAD
CDH1	P12830	p.Arg545Gly	RCV000221967	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819347C>G	ClinVar
CDH1	P12830	p.Arg545Leu	RCV000570878	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819348G>T	ClinVar
CDH1	P12830	p.Arg545Trp	rs863224727	missense variant	-	NC_000016.10:g.68819347C>T	TOPMed,gnomAD
CDH1	P12830	p.Arg545Gln	rs587780115	missense variant	-	NC_000016.10:g.68819348G>A	ExAC,gnomAD
CDH1	P12830	p.Ala546Thr	RCV000217485	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819350G>A	ClinVar
CDH1	P12830	p.Ala546Ter	RCV000569877	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819350del	ClinVar
CDH1	P12830	p.Ala546Thr	rs876658877	missense variant	-	NC_000016.10:g.68819350G>A	-
CDH1	P12830	p.Leu548Pro	rs747801796	missense variant	-	NC_000016.10:g.68819357T>C	ExAC,gnomAD
CDH1	P12830	p.Leu548Val	RCV000534032	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819356C>G	ClinVar
CDH1	P12830	p.Leu548Val	rs1181682630	missense variant	-	NC_000016.10:g.68819356C>G	gnomAD
CDH1	P12830	p.Asp549Asn	RCV000527221	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819359G>A	ClinVar
CDH1	P12830	p.Asp549Asn	rs876659525	missense variant	-	NC_000016.10:g.68819359G>A	-
CDH1	P12830	p.Asp549Asn	RCV000219712	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819359G>A	ClinVar
CDH1	P12830	p.Asp549Asn	RCV000508188	missense variant	-	NC_000016.10:g.68819359G>A	ClinVar
CDH1	P12830	p.Arg550Thr	RCV000774769	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819363G>C	ClinVar
CDH1	P12830	p.Arg550Thr	RCV000817071	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819363G>C	ClinVar
CDH1	P12830	p.Arg550Thr	rs771649648	missense variant	-	NC_000016.10:g.68819363G>C	ExAC,gnomAD
CDH1	P12830	p.Glu554Lys	RCV000581637	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819374G>A	ClinVar
CDH1	P12830	p.Glu554Gln	rs566103420	missense variant	-	NC_000016.10:g.68819374G>C	1000Genomes,ExAC,gnomAD
CDH1	P12830	p.Glu554Lys	rs566103420	missense variant	-	NC_000016.10:g.68819374G>A	1000Genomes,ExAC,gnomAD
CDH1	P12830	p.His555Asp	RCV000688207	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819377C>G	ClinVar
CDH1	P12830	p.His555Tyr	RCV000776668	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819377C>T	ClinVar
CDH1	P12830	p.His555Asp	rs587782768	missense variant	-	NC_000016.10:g.68819377C>G	-
CDH1	P12830	p.His555Asp	RCV000132296	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819377C>G	ClinVar
CDH1	P12830	p.Val556Met	RCV000566284	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819380G>A	ClinVar
CDH1	P12830	p.Val556Leu	RCV000214579	missense variant	-	NC_000016.10:g.68819380G>C	ClinVar
CDH1	P12830	p.Val556Leu	rs876660399	missense variant	-	NC_000016.10:g.68819380G>C	gnomAD
CDH1	P12830	p.Val556Met	rs876660399	missense variant	-	NC_000016.10:g.68819380G>A	gnomAD
CDH1	P12830	p.Val556Leu	RCV000220412	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819380G>C	ClinVar
CDH1	P12830	p.Lys557Asn	COSM972790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68819385G>T	NCI-TCGA Cosmic
CDH1	P12830	p.Lys557Arg	rs1173188736	missense variant	-	NC_000016.10:g.68819384A>G	gnomAD
CDH1	P12830	p.Ser559Cys	RCV000538831	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819389A>T	ClinVar
CDH1	P12830	p.Ser559Asn	COSM19513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68819390G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Ser559Cys	rs1555516566	missense variant	-	NC_000016.10:g.68819389A>T	-
CDH1	P12830	p.Thr560Met	RCV000167921	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819393C>T	ClinVar
CDH1	P12830	p.Thr560Met	RCV000485776	missense variant	-	NC_000016.10:g.68819393C>T	ClinVar
CDH1	P12830	p.Thr560Arg	RCV000219965	missense variant	-	NC_000016.10:g.68819393C>G	ClinVar
CDH1	P12830	p.Thr560Met	RCV000215364	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819393C>T	ClinVar
CDH1	P12830	p.Thr560Arg	rs746481984	missense variant	-	NC_000016.10:g.68819393C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr560Met	rs746481984	missense variant	-	NC_000016.10:g.68819393C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr560ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68819392A>-	NCI-TCGA
CDH1	P12830	p.Tyr561Ter	RCV000566595	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819393dup	ClinVar
CDH1	P12830	p.Tyr561Cys	rs918685758	missense variant	-	NC_000016.10:g.68819396A>G	TOPMed
CDH1	P12830	p.Thr562Ala	RCV000233909	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819398A>G	ClinVar
CDH1	P12830	p.Thr562Ser	RCV000549056	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819398A>T	ClinVar
CDH1	P12830	p.Thr562Ser	rs587782061	missense variant	-	NC_000016.10:g.68819398A>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr562Arg	rs587782381	missense variant	-	NC_000016.10:g.68819399C>G	-
CDH1	P12830	p.Thr562Ala	rs587782061	missense variant	-	NC_000016.10:g.68819398A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr562Pro	rs587782061	missense variant	-	NC_000016.10:g.68819398A>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Thr562Arg	RCV000791845	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819399C>G	ClinVar
CDH1	P12830	p.Ala563Ser	RCV000130507	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819401G>T	ClinVar
CDH1	P12830	p.Ala563Thr	RCV000568401	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819401G>A	ClinVar
CDH1	P12830	p.Ala563Ser	rs587782044	missense variant	-	NC_000016.10:g.68819401G>T	TOPMed
CDH1	P12830	p.Ala563Ser	RCV000473796	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819401G>T	ClinVar
CDH1	P12830	p.Ala563Ser	RCV000212374	missense variant	-	NC_000016.10:g.68819401G>T	ClinVar
CDH1	P12830	p.Ala563Thr	rs587782044	missense variant	-	NC_000016.10:g.68819401G>A	TOPMed
CDH1	P12830	p.Leu564Gln	rs770201038	missense variant	-	NC_000016.10:g.68819405T>A	ExAC,gnomAD
CDH1	P12830	p.Leu564Val	rs786201342	missense variant	-	NC_000016.10:g.68819404C>G	TOPMed,gnomAD
CDH1	P12830	p.Ile566Leu	RCV000220447	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819410A>C	ClinVar
CDH1	P12830	p.Ile566Thr	RCV000218074	missense variant	-	NC_000016.10:g.68819411T>C	ClinVar
CDH1	P12830	p.Ile566Thr	rs763292288	missense variant	-	NC_000016.10:g.68819411T>C	ExAC,gnomAD
CDH1	P12830	p.Ile566Thr	RCV000206172	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819411T>C	ClinVar
CDH1	P12830	p.Ile566Thr	RCV000164574	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819411T>C	ClinVar
CDH1	P12830	p.Ile566Leu	rs775941240	missense variant	-	NC_000016.10:g.68819410A>C	ExAC,gnomAD
CDH1	P12830	p.Ala567Val	RCV000262178	missense variant	-	NC_000016.10:g.68819414C>T	ClinVar
CDH1	P12830	p.Ala567Val	RCV000639258	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819414C>T	ClinVar
CDH1	P12830	p.Ala567Val	rs886041160	missense variant	-	NC_000016.10:g.68819414C>T	-
CDH1	P12830	p.Thr568Ile	RCV000165660	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819417C>T	ClinVar
CDH1	P12830	p.Thr568Arg	RCV000492379	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819417C>G	ClinVar
CDH1	P12830	p.Thr568Ala	rs1060501242	missense variant	-	NC_000016.10:g.68819416A>G	-
CDH1	P12830	p.Thr568Ala	RCV000473023	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819416A>G	ClinVar
CDH1	P12830	p.Asp569Glu	RCV000479771	missense variant	-	NC_000016.10:g.68819421C>A	ClinVar
CDH1	P12830	p.Asp569Glu	rs876660905	missense variant	-	NC_000016.10:g.68819421C>A	gnomAD
CDH1	P12830	p.Asp569Glu	RCV000216294	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819421C>A	ClinVar
CDH1	P12830	p.Asn570Ser	RCV000639281	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68819423A>G	ClinVar
CDH1	P12830	p.Asn570His	RCV000776909	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819422A>C	ClinVar
CDH1	P12830	p.Asn570Ser	rs1555516592	missense variant	-	NC_000016.10:g.68819423A>G	-
CDH1	P12830	p.Asn570MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68819422A>-	NCI-TCGA
CDH1	P12830	p.Gly571Ser	rs786202290	missense variant	-	NC_000016.10:g.68819425G>A	-
CDH1	P12830	p.Gly571Ser	RCV000165027	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68819425G>A	ClinVar
CDH1	P12830	p.Pro573Leu	RCV000542307	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822007C>T	ClinVar
CDH1	P12830	p.Pro573Leu	rs1555516819	missense variant	-	NC_000016.10:g.68822007C>T	-
CDH1	P12830	p.Pro573Ser	rs767636524	missense variant	-	NC_000016.10:g.68822006C>T	ExAC,gnomAD
CDH1	P12830	p.Val574Ile	RCV000220657	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822009G>A	ClinVar
CDH1	P12830	p.Val574Gly	RCV000709397	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822010T>G	ClinVar
CDH1	P12830	p.Val574Ile	rs115934514	missense variant	-	NC_000016.10:g.68822009G>A	1000Genomes,ExAC,gnomAD
CDH1	P12830	p.Val574Phe	rs115934514	missense variant	-	NC_000016.10:g.68822009G>T	1000Genomes,ExAC,gnomAD
CDH1	P12830	p.Ala575GlyPheSerTerUnkUnk	COSM5833149	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68822011_68822012insG	NCI-TCGA Cosmic
CDH1	P12830	p.Thr576Ala	RCV000479921	missense variant	-	NC_000016.10:g.68822015A>G	ClinVar
CDH1	P12830	p.Thr576Pro	RCV000568763	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822015A>C	ClinVar
CDH1	P12830	p.Thr576Ser	rs759536558	missense variant	-	NC_000016.10:g.68822015A>T	ExAC,gnomAD
CDH1	P12830	p.Thr576Ser	RCV000566211	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822015A>T	ClinVar
CDH1	P12830	p.Thr576Ser	RCV000231721	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822015A>T	ClinVar
CDH1	P12830	p.Thr576Pro	rs759536558	missense variant	-	NC_000016.10:g.68822015A>C	ExAC,gnomAD
CDH1	P12830	p.Thr576Ala	rs759536558	missense variant	-	NC_000016.10:g.68822015A>G	ExAC,gnomAD
CDH1	P12830	p.Gly577Glu	RCV000565857	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822019G>A	ClinVar
CDH1	P12830	p.Gly577Glu	rs1555516820	missense variant	-	NC_000016.10:g.68822019G>A	-
CDH1	P12830	p.Thr578Ile	RCV000706915	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822022C>T	ClinVar
CDH1	P12830	p.Gly579Ter	RCV000657274	frameshift	-	NC_000016.10:g.68822022dup	ClinVar
CDH1	P12830	p.Thr580Ala	RCV000168151	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822027A>G	ClinVar
CDH1	P12830	p.Thr580Ala	rs786204155	missense variant	-	NC_000016.10:g.68822027A>G	-
CDH1	P12830	p.Leu581Phe	RCV000771412	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822030C>T	ClinVar
CDH1	P12830	p.Leu581Phe	RCV000688984	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822030C>T	ClinVar
CDH1	P12830	p.Leu582Met	RCV000639254	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822033C>A	ClinVar
CDH1	P12830	p.Leu582Met	rs1801025	missense variant	-	NC_000016.10:g.68822033C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Leu583Ter	RCV000492101	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822035dup	ClinVar
CDH1	P12830	p.Leu583Ter	RCV000657176	frameshift	-	NC_000016.10:g.68822035dup	ClinVar
CDH1	P12830	p.Leu583ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68822032_68822033insCTGC	NCI-TCGA
CDH1	P12830	p.Ser586Phe	RCV000205226	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822046C>T	ClinVar
CDH1	P12830	p.Ser586Phe	rs864622599	missense variant	-	NC_000016.10:g.68822046C>T	TOPMed
CDH1	P12830	p.Asp587Val	rs1458799670	missense variant	-	NC_000016.10:g.68822049A>T	gnomAD
CDH1	P12830	p.Asp587Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68822049A>C	NCI-TCGA
CDH1	P12830	p.Asn589Ser	rs1367108095	missense variant	-	NC_000016.10:g.68822055A>G	gnomAD
CDH1	P12830	p.Asn589Asp	rs758238240	missense variant	-	NC_000016.10:g.68822054A>G	ExAC,gnomAD
CDH1	P12830	p.Asp590Glu	RCV000206079	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822059C>A	ClinVar
CDH1	P12830	p.Asp590Glu	RCV000774770	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822059C>A	ClinVar
CDH1	P12830	p.Asp590Glu	rs864622319	missense variant	-	NC_000016.10:g.68822059C>A	TOPMed,gnomAD
CDH1	P12830	p.Asp590Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68822057G>A	NCI-TCGA
CDH1	P12830	p.Asn591Ser	rs1555516835	missense variant	-	NC_000016.10:g.68822061A>G	-
CDH1	P12830	p.Asn591Asp	rs751291956	missense variant	-	NC_000016.10:g.68822060A>G	ExAC,gnomAD
CDH1	P12830	p.Asn591Ser	RCV000639200	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822061A>G	ClinVar
CDH1	P12830	p.Ala592Gly	RCV000164679	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822064C>G	ClinVar
CDH1	P12830	p.Ala592Gly	rs786202059	missense variant	-	NC_000016.10:g.68822064C>G	-
CDH1	P12830	p.Ala592Ser	RCV000765306	missense variant	Familial cancer of breast	NC_000016.10:g.68822063G>T	ClinVar
CDH1	P12830	p.Ala592Ser	RCV000163911	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822063G>T	ClinVar
CDH1	P12830	p.Ala592Thr	RCV000034704	missense variant	-	NC_000016.10:g.68822063G>A	ClinVar
CDH1	P12830	p.Ala592Ser	rs35187787	missense variant	-	NC_000016.10:g.68822063G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala592Ser	RCV000552810	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822063G>T	ClinVar
CDH1	P12830	p.Ala592Thr	RCV000148453	missense variant	Neoplasm of the breast	NC_000016.10:g.68822063G>A	ClinVar
CDH1	P12830	p.Ala592Ser	RCV000480077	missense variant	-	NC_000016.10:g.68822063G>T	ClinVar
CDH1	P12830	p.Ala592Thr	rs35187787	missense variant	-	NC_000016.10:g.68822063G>A	UniProt,dbSNP
CDH1	P12830	p.Ala592Thr	VAR_001318	missense variant	-	NC_000016.10:g.68822063G>A	UniProt
CDH1	P12830	p.Ala592Thr	rs35187787	missense variant	-	NC_000016.10:g.68822063G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Pro593Arg	RCV000776801	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822067C>G	ClinVar
CDH1	P12830	p.Ile594Ter	RCV000222914	frameshift	-	NC_000016.10:g.68822068dup	ClinVar
CDH1	P12830	p.Ile594Leu	RCV000562579	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822069A>T	ClinVar
CDH1	P12830	p.Ile594Leu	RCV000639247	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822069A>T	ClinVar
CDH1	P12830	p.Ile594Leu	rs1206609823	missense variant	-	NC_000016.10:g.68822069A>T	TOPMed
CDH1	P12830	p.Ile594Ter	RCV000492623	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822068dup	ClinVar
CDH1	P12830	p.Pro595Ser	RCV000570513	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822072C>T	ClinVar
CDH1	P12830	p.Pro595Arg	RCV000695512	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822073C>G	ClinVar
CDH1	P12830	p.Pro595Arg	RCV000581283	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822073C>G	ClinVar
CDH1	P12830	p.Pro595Arg	rs1555516843	missense variant	-	NC_000016.10:g.68822073C>G	-
CDH1	P12830	p.Pro595Ser	RCV000541565	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822072C>T	ClinVar
CDH1	P12830	p.Pro595Ser	rs755622441	missense variant	-	NC_000016.10:g.68822072C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu596Lys	RCV000687357	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822075G>A	ClinVar
CDH1	P12830	p.Glu596Gln	RCV000556249	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822075G>C	ClinVar
CDH1	P12830	p.Glu596Gln	rs1555516844	missense variant	-	NC_000016.10:g.68822075G>C	-
CDH1	P12830	p.Pro597Ser	RCV000575345	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822078C>T	ClinVar
CDH1	P12830	p.Pro597Thr	RCV000166250	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822078C>A	ClinVar
CDH1	P12830	p.Pro597Thr	RCV000506747	missense variant	-	NC_000016.10:g.68822078C>A	ClinVar
CDH1	P12830	p.Pro597Ser	RCV000707611	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822078C>T	ClinVar
CDH1	P12830	p.Pro597Ser	rs201625049	missense variant	-	NC_000016.10:g.68822078C>T	TOPMed
CDH1	P12830	p.Pro597Ser	RCV000034705	missense variant	-	NC_000016.10:g.68822078C>T	ClinVar
CDH1	P12830	p.Pro597Thr	rs201625049	missense variant	-	NC_000016.10:g.68822078C>A	TOPMed
CDH1	P12830	p.Pro597GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68822074_68822099AGAACCTCGAACTATATTCTTCTGTG>-	NCI-TCGA
CDH1	P12830	p.Arg598Ter	RCV000013028	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822081C>T	ClinVar
CDH1	P12830	p.Arg598Gln	rs780759537	missense variant	-	NC_000016.10:g.68822082G>A	ExAC,gnomAD
CDH1	P12830	p.Arg598Gln	RCV000168156	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822082G>A	ClinVar
CDH1	P12830	p.Arg598Gln	RCV000216786	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822082G>A	ClinVar
CDH1	P12830	p.Arg598Gly	RCV000470902	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822081C>G	ClinVar
CDH1	P12830	p.Arg598Ter	RCV000484230	nonsense	-	NC_000016.10:g.68822081C>T	ClinVar
CDH1	P12830	p.Arg598Ter	RCV000213248	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822081C>T	ClinVar
CDH1	P12830	p.Arg598Ter	rs121964877	stop gained	-	NC_000016.10:g.68822081C>T	-
CDH1	P12830	p.Thr599Ile	RCV000466849	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822085C>T	ClinVar
CDH1	P12830	p.Thr599Ser	rs377302798	missense variant	-	NC_000016.10:g.68822085C>G	ESP,TOPMed,gnomAD
CDH1	P12830	p.Thr599Ile	RCV000220982	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822085C>T	ClinVar
CDH1	P12830	p.Thr599Ile	rs377302798	missense variant	-	NC_000016.10:g.68822085C>T	ESP,TOPMed,gnomAD
CDH1	P12830	p.Ile600Met	RCV000228422	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822089A>G	ClinVar
CDH1	P12830	p.Ile600Met	rs878854680	missense variant	-	NC_000016.10:g.68822089A>G	gnomAD
CDH1	P12830	p.Ile600Thr	rs1044050273	missense variant	-	NC_000016.10:g.68822088T>C	TOPMed
CDH1	P12830	p.Phe602GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68822071_68822072insCCAGAACCTCGAACTATATT	NCI-TCGA
CDH1	P12830	p.Cys603Ser	rs864622612	missense variant	-	NC_000016.10:g.68822097G>C	-
CDH1	P12830	p.Cys603Ser	RCV000204502	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822097G>C	ClinVar
CDH1	P12830	p.Cys603Tyr	rs864622612	missense variant	-	NC_000016.10:g.68822097G>A	-
CDH1	P12830	p.Cys603Tyr	RCV000568473	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822097G>A	ClinVar
CDH1	P12830	p.Asn606Ile	COSM972794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68822106A>T	NCI-TCGA Cosmic
CDH1	P12830	p.Pro607Ser	COSM1479029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68822108C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Lys608Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68822113G>T	NCI-TCGA
CDH1	P12830	p.Pro609Ser	RCV000777385	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822114C>T	ClinVar
CDH1	P12830	p.Gln610Pro	rs1555516856	missense variant	-	NC_000016.10:g.68822118A>C	-
CDH1	P12830	p.Gln610Pro	RCV000586427	missense variant	-	NC_000016.10:g.68822118A>C	ClinVar
CDH1	P12830	p.Val611Asp	rs779351070	missense variant	-	NC_000016.10:g.68822121T>A	ExAC,gnomAD
CDH1	P12830	p.Val611Asp	RCV000221471	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822121T>A	ClinVar
CDH1	P12830	p.Ile612Val	RCV000166050	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822123A>G	ClinVar
CDH1	P12830	p.Ile612Val	RCV000529171	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822123A>G	ClinVar
CDH1	P12830	p.Ile612Val	rs786202965	missense variant	-	NC_000016.10:g.68822123A>G	-
CDH1	P12830	p.Asn613Ser	RCV000571536	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822127A>G	ClinVar
CDH1	P12830	p.Asn613Ser	rs1555516860	missense variant	-	NC_000016.10:g.68822127A>G	-
CDH1	P12830	p.Ile614Val	RCV000701176	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822129A>G	ClinVar
CDH1	P12830	p.Ile614Phe	rs587782838	missense variant	-	NC_000016.10:g.68822129A>T	ExAC,gnomAD
CDH1	P12830	p.Ile614Val	rs587782838	missense variant	-	NC_000016.10:g.68822129A>G	ExAC,gnomAD
CDH1	P12830	p.Ile614Val	RCV000214623	missense variant	-	NC_000016.10:g.68822129A>G	ClinVar
CDH1	P12830	p.Ile614Val	RCV000132427	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822129A>G	ClinVar
CDH1	P12830	p.Ile615Val	RCV000701413	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822132A>G	ClinVar
CDH1	P12830	p.Ile615Thr	RCV000554381	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822133T>C	ClinVar
CDH1	P12830	p.Ile615Thr	RCV000484607	missense variant	-	NC_000016.10:g.68822133T>C	ClinVar
CDH1	P12830	p.Ile615Thr	RCV000219158	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822133T>C	ClinVar
CDH1	P12830	p.Ile615Val	RCV000765307	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822132A>G	ClinVar
CDH1	P12830	p.Ile615Val	rs1003012321	missense variant	-	NC_000016.10:g.68822132A>G	TOPMed,gnomAD
CDH1	P12830	p.Ile615Val	RCV000566335	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822132A>G	ClinVar
CDH1	P12830	p.Ile615Thr	rs760707493	missense variant	-	NC_000016.10:g.68822133T>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala617Ser	rs33935154	missense variant	-	NC_000016.10:g.68822138G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala617Thr	RCV000130292	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822138G>A	ClinVar
CDH1	P12830	p.Ala617Ser	RCV000561868	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822138G>T	ClinVar
CDH1	P12830	p.Ala617Ser	RCV000532668	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822138G>T	ClinVar
CDH1	P12830	p.Ala617Thr	rs33935154	missense variant	-	NC_000016.10:g.68822138G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala617Thr	rs33935154	missense variant	-	NC_000016.10:g.68822138G>A	UniProt,dbSNP
CDH1	P12830	p.Ala617Thr	VAR_001320	missense variant	-	NC_000016.10:g.68822138G>A	UniProt
CDH1	P12830	p.Leu619Phe	RCV000220007	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822144C>T	ClinVar
CDH1	P12830	p.Leu619Phe	rs876659221	missense variant	-	NC_000016.10:g.68822144C>T	gnomAD
CDH1	P12830	p.Pro620Thr	RCV000164399	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822147C>A	ClinVar
CDH1	P12830	p.Pro620Thr	RCV000473475	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822147C>A	ClinVar
CDH1	P12830	p.Pro620Ser	RCV000164881	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822147C>T	ClinVar
CDH1	P12830	p.Pro620Leu	RCV000543150	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822148C>T	ClinVar
CDH1	P12830	p.Pro620Ser	rs786201888	missense variant	-	NC_000016.10:g.68822147C>T	-
CDH1	P12830	p.Pro620Leu	rs1555516871	missense variant	-	NC_000016.10:g.68822148C>T	-
CDH1	P12830	p.Pro620Thr	rs786201888	missense variant	-	NC_000016.10:g.68822147C>A	-
CDH1	P12830	p.Asn622Ser	RCV000131244	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822154A>G	ClinVar
CDH1	P12830	p.Asn622Ser	RCV000761008	missense variant	B Lymphoblastic Leukemia/Lymphoma	NC_000016.10:g.68822154A>G	ClinVar
CDH1	P12830	p.Asn622Tyr	rs367849039	missense variant	-	NC_000016.10:g.68822153A>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn622His	RCV000160395	missense variant	-	NC_000016.10:g.68822153A>C	ClinVar
CDH1	P12830	p.Asn622Ser	RCV000286705	missense variant	-	NC_000016.10:g.68822154A>G	ClinVar
CDH1	P12830	p.Asn622Ser	RCV000123241	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822154A>G	ClinVar
CDH1	P12830	p.Asn622His	rs367849039	missense variant	-	NC_000016.10:g.68822153A>C	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn622Ser	rs147925149	missense variant	-	NC_000016.10:g.68822154A>G	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Pro625Ala	RCV000574184	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822162C>G	ClinVar
CDH1	P12830	p.Pro625Ala	rs1555516877	missense variant	-	NC_000016.10:g.68822162C>G	-
CDH1	P12830	p.Phe626Val	RCV000456373	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822165T>G	ClinVar
CDH1	P12830	p.Phe626Val	RCV000215202	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822165T>G	ClinVar
CDH1	P12830	p.Phe626Val	rs876660603	missense variant	-	NC_000016.10:g.68822165T>G	TOPMed
CDH1	P12830	p.Thr627HisPheSerTerUnkUnk	COSM1479030	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68822164_68822165insT	NCI-TCGA Cosmic
CDH1	P12830	p.Thr627Pro	RCV000584235	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822168A>C	ClinVar
CDH1	P12830	p.Thr627Arg	rs751265976	missense variant	-	NC_000016.10:g.68822169C>G	ExAC
CDH1	P12830	p.Thr627Pro	rs1555516886	missense variant	-	NC_000016.10:g.68822168A>C	-
CDH1	P12830	p.Glu629Gln	RCV000689849	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822174G>C	ClinVar
CDH1	P12830	p.Glu629Gln	RCV000573799	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822174G>C	ClinVar
CDH1	P12830	p.Glu629Gln	rs1028765743	missense variant	-	NC_000016.10:g.68822174G>C	TOPMed,gnomAD
CDH1	P12830	p.Leu630Val	rs2276331	missense variant	-	NC_000016.10:g.68822177C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Leu630Pro	RCV000563149	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822178T>C	ClinVar
CDH1	P12830	p.Leu630Val	RCV000195597	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822177C>G	ClinVar
CDH1	P12830	p.Leu630Pro	rs767116004	missense variant	-	NC_000016.10:g.68822178T>C	ExAC,gnomAD
CDH1	P12830	p.Leu630Gln	rs767116004	missense variant	-	NC_000016.10:g.68822178T>A	ExAC,gnomAD
CDH1	P12830	p.His632Arg	RCV000508276	missense variant	-	NC_000016.10:g.68822184A>G	ClinVar
CDH1	P12830	p.His632Arg	rs1555516892	missense variant	-	NC_000016.10:g.68822184A>G	-
CDH1	P12830	p.His632Ter	RCV000468989	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822180_68822181AC[2]	ClinVar
CDH1	P12830	p.His632GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68822185C>-	NCI-TCGA
CDH1	P12830	p.Gly633Arg	RCV000129704	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822186G>A	ClinVar
CDH1	P12830	p.Gly633Glu	RCV000132448	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822187G>A	ClinVar
CDH1	P12830	p.Gly633Glu	rs587782850	missense variant	-	NC_000016.10:g.68822187G>A	-
CDH1	P12830	p.Gly633Arg	rs587781615	missense variant	-	NC_000016.10:g.68822186G>A	ExAC,gnomAD
CDH1	P12830	p.Gly633Trp	rs587781615	missense variant	-	NC_000016.10:g.68822186G>T	ExAC,gnomAD
CDH1	P12830	p.Gly633Arg	RCV000792280	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822186G>A	ClinVar
CDH1	P12830	p.Ala634Thr	RCV000472963	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822189G>A	ClinVar
CDH1	P12830	p.Ala634Thr	RCV000485862	missense variant	-	NC_000016.10:g.68822189G>A	ClinVar
CDH1	P12830	p.Ala634Val	RCV000013031	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822190C>T	ClinVar
CDH1	P12830	p.Ala634Thr	rs1060501240	missense variant	-	NC_000016.10:g.68822189G>A	-
CDH1	P12830	p.Ala634Val	rs121964878	missense variant	-	NC_000016.10:g.68822190C>T	-
CDH1	P12830	p.Ala634Val	rs121964878	missense variant	-	NC_000016.10:g.68822190C>T	UniProt,dbSNP
CDH1	P12830	p.Ala634Val	VAR_055431	missense variant	-	NC_000016.10:g.68822190C>T	UniProt
CDH1	P12830	p.Ser635Gly	RCV000571740	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822192A>G	ClinVar
CDH1	P12830	p.Ser635Gly	rs1318805721	missense variant	-	NC_000016.10:g.68822192A>G	gnomAD
CDH1	P12830	p.Ser635Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68822193G>T	NCI-TCGA
CDH1	P12830	p.Ala636Thr	RCV000693174	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822195G>A	ClinVar
CDH1	P12830	p.Ala636Thr	RCV000221626	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822195G>A	ClinVar
CDH1	P12830	p.Ala636Val	RCV000639220	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822196C>T	ClinVar
CDH1	P12830	p.Ala636Val	rs1555516894	missense variant	-	NC_000016.10:g.68822196C>T	-
CDH1	P12830	p.Ala636Thr	rs876658950	missense variant	-	NC_000016.10:g.68822195G>A	TOPMed,gnomAD
CDH1	P12830	p.Asn637Ser	rs755482251	missense variant	-	NC_000016.10:g.68822199A>G	ExAC,gnomAD
CDH1	P12830	p.Trp638Ter	RCV000736284	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822202G>A	ClinVar
CDH1	P12830	p.Thr639Ala	RCV000564925	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822204A>G	ClinVar
CDH1	P12830	p.Thr639Ala	RCV000695428	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822204A>G	ClinVar
CDH1	P12830	p.Thr639Ala	rs1555516895	missense variant	-	NC_000016.10:g.68822204A>G	-
CDH1	P12830	p.Ile640Ter	RCV000639279	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822206_68822207del	ClinVar
CDH1	P12830	p.Gln641Arg	RCV000696378	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822211A>G	ClinVar
CDH1	P12830	p.Gln641Arg	RCV000214635	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822211A>G	ClinVar
CDH1	P12830	p.Gln641Ter	RCV000662630	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822210C>T	ClinVar
CDH1	P12830	p.Gln641Ter	rs587782750	stop gained	-	NC_000016.10:g.68822210C>T	ExAC,gnomAD
CDH1	P12830	p.Gln641Arg	rs876660113	missense variant	-	NC_000016.10:g.68822211A>G	-
CDH1	P12830	p.Gln641Arg	RCV000486533	missense variant	-	NC_000016.10:g.68822211A>G	ClinVar
CDH1	P12830	p.Asn643Asp	RCV000129550	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822216A>G	ClinVar
CDH1	P12830	p.Asn643Ser	RCV000771398	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822217A>G	ClinVar
CDH1	P12830	p.Asn643Lys	RCV000574637	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822218C>A	ClinVar
CDH1	P12830	p.Asn643Lys	rs374152504	missense variant	-	NC_000016.10:g.68822218C>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn643Asp	rs587781540	missense variant	-	NC_000016.10:g.68822216A>G	-
CDH1	P12830	p.Asp644Asn	RCV000129863	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822219G>A	ClinVar
CDH1	P12830	p.Asp644His	rs587781696	missense variant	-	NC_000016.10:g.68822219G>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp644Asn	rs587781696	missense variant	-	NC_000016.10:g.68822219G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp644Asn	RCV000231981	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68822219G>A	ClinVar
CDH1	P12830	p.Asp644Asn	RCV000588229	missense variant	-	NC_000016.10:g.68822219G>A	ClinVar
CDH1	P12830	p.Pro645Ser	rs747240698	missense variant	-	NC_000016.10:g.68822222C>T	ExAC,gnomAD
CDH1	P12830	p.Thr646Asn	rs1331707958	missense variant	-	NC_000016.10:g.68823399C>A	gnomAD
CDH1	P12830	p.Thr646Ala	RCV000571504	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68822225A>G	ClinVar
CDH1	P12830	p.Thr646Ala	rs771064558	missense variant	-	NC_000016.10:g.68822225A>G	ExAC,gnomAD
CDH1	P12830	p.Gln647Glu	rs778195664	missense variant	-	NC_000016.10:g.68823401C>G	ExAC
CDH1	P12830	p.Gln647Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68823402A>T	NCI-TCGA
CDH1	P12830	p.Gln647Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68823401C>T	NCI-TCGA
CDH1	P12830	p.Glu648Gln	RCV000478373	missense variant	-	NC_000016.10:g.68823404G>C	ClinVar
CDH1	P12830	p.Glu648Ter	rs971882211	stop gained	-	NC_000016.10:g.68823404G>T	TOPMed,gnomAD
CDH1	P12830	p.Glu648Gln	RCV000639224	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823404G>C	ClinVar
CDH1	P12830	p.Glu648Ter	RCV000536569	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823404G>T	ClinVar
CDH1	P12830	p.Glu648Gln	rs971882211	missense variant	-	NC_000016.10:g.68823404G>C	TOPMed,gnomAD
CDH1	P12830	p.Ser649Phe	RCV000562356	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823408C>T	ClinVar
CDH1	P12830	p.Ser649Phe	RCV000525333	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823408C>T	ClinVar
CDH1	P12830	p.Ser649Phe	rs1238607560	missense variant	-	NC_000016.10:g.68823408C>T	gnomAD
CDH1	P12830	p.Ile650Thr	RCV000478403	missense variant	-	NC_000016.10:g.68823411T>C	ClinVar
CDH1	P12830	p.Ile650Thr	RCV000780091	missense variant	-	NC_000016.10:g.68823411T>C	ClinVar
CDH1	P12830	p.Ile650Val	RCV000535633	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823410A>G	ClinVar
CDH1	P12830	p.Ile650TyrPheSerTerUnkUnk	COSM1479033	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68823408_68823409insT	NCI-TCGA Cosmic
CDH1	P12830	p.Ile650Thr	RCV000165892	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823411T>C	ClinVar
CDH1	P12830	p.Ile650Thr	RCV000550538	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823411T>C	ClinVar
CDH1	P12830	p.Ile650Ter	RCV000561883	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823410_68823411del	ClinVar
CDH1	P12830	p.Ile650Val	rs1555517077	missense variant	-	NC_000016.10:g.68823410A>G	-
CDH1	P12830	p.Ile650Thr	rs747235838	missense variant	-	NC_000016.10:g.68823411T>C	ExAC,gnomAD
CDH1	P12830	p.Ile651Met	RCV000570006	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823415T>G	ClinVar
CDH1	P12830	p.Ile651Ter	RCV000551453	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823410_68823411dup	ClinVar
CDH1	P12830	p.Ile651Thr	RCV000571180	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823414T>C	ClinVar
CDH1	P12830	p.Ile651Val	rs876660503	missense variant	-	NC_000016.10:g.68823413A>G	-
CDH1	P12830	p.Ile651Thr	rs1555517080	missense variant	-	NC_000016.10:g.68823414T>C	-
CDH1	P12830	p.Ile651Met	rs1555517083	missense variant	-	NC_000016.10:g.68823415T>G	-
CDH1	P12830	p.Ile651Val	RCV000217003	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823413A>G	ClinVar
CDH1	P12830	p.Ile651Val	RCV000528946	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823413A>G	ClinVar
CDH1	P12830	p.Leu652Trp	RCV000761061	missense variant	Acute myeloid leukemia (AML)	NC_000016.10:g.68823417T>G	ClinVar
CDH1	P12830	p.Lys653Thr	rs1555517084	missense variant	-	NC_000016.10:g.68823420A>C	-
CDH1	P12830	p.Lys653Thr	RCV000521821	missense variant	-	NC_000016.10:g.68823420A>C	ClinVar
CDH1	P12830	p.Met656Ter	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68823428_68823434ATGGCCT>-	NCI-TCGA
CDH1	P12830	p.Ala657Gly	rs757422353	missense variant	-	NC_000016.10:g.68823432C>G	ExAC,gnomAD
CDH1	P12830	p.Glu659Asp	RCV000213110	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823439G>T	ClinVar
CDH1	P12830	p.Glu659Asp	rs368243190	missense variant	-	NC_000016.10:g.68823439G>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu659Lys	rs781280931	missense variant	-	NC_000016.10:g.68823437G>A	ExAC,gnomAD
CDH1	P12830	p.Val660Met	RCV000539244	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823440G>A	ClinVar
CDH1	P12830	p.Val660Glu	rs1555517090	missense variant	-	NC_000016.10:g.68823441T>A	-
CDH1	P12830	p.Val660Ala	RCV000573208	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823441T>C	ClinVar
CDH1	P12830	p.Val660Met	RCV000568800	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823440G>A	ClinVar
CDH1	P12830	p.Val660Ala	RCV000820444	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823441T>C	ClinVar
CDH1	P12830	p.Val660Glu	RCV000568722	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823441T>A	ClinVar
CDH1	P12830	p.Val660Met	rs769844369	missense variant	-	NC_000016.10:g.68823440G>A	ExAC,gnomAD
CDH1	P12830	p.Val660Ala	rs1555517090	missense variant	-	NC_000016.10:g.68823441T>C	-
CDH1	P12830	p.Gly661Ter	RCV000160368	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823441dup	ClinVar
CDH1	P12830	p.Gly661Asp	rs756092625	missense variant	-	NC_000016.10:g.68823444G>A	ExAC
CDH1	P12830	p.Tyr663Cys	RCV000197868	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823450A>G	ClinVar
CDH1	P12830	p.Tyr663Cys	RCV000212376	missense variant	-	NC_000016.10:g.68823450A>G	ClinVar
CDH1	P12830	p.Tyr663Cys	RCV000129549	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823450A>G	ClinVar
CDH1	P12830	p.Tyr663Cys	RCV000766709	missense variant	-	NC_000016.10:g.68823450A>G	ClinVar
CDH1	P12830	p.Tyr663Cys	rs372182377	missense variant	-	NC_000016.10:g.68823450A>G	ESP,TOPMed,gnomAD
CDH1	P12830	p.Tyr663Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68823450A>T	NCI-TCGA
CDH1	P12830	p.Lys664Arg	RCV000569362	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823453A>G	ClinVar
CDH1	P12830	p.Lys664Arg	rs1436479908	missense variant	-	NC_000016.10:g.68823453A>G	gnomAD
CDH1	P12830	p.Lys664Gln	rs1275496047	missense variant	-	NC_000016.10:g.68823452A>C	gnomAD
CDH1	P12830	p.Ile665Val	RCV000205339	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823455A>G	ClinVar
CDH1	P12830	p.Ile665Ter	RCV000694737	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823455del	ClinVar
CDH1	P12830	p.Ile665SerPheSerTerUnkUnk	COSM5029231	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68823452A>-	NCI-TCGA Cosmic
CDH1	P12830	p.Ile665Val	rs864622503	missense variant	-	NC_000016.10:g.68823455A>G	-
CDH1	P12830	p.Asn666His	RCV000206535	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823458A>C	ClinVar
CDH1	P12830	p.Asn666Ser	rs897830106	missense variant	-	NC_000016.10:g.68823459A>G	-
CDH1	P12830	p.Asn666Lys	rs1167042883	missense variant	-	NC_000016.10:g.68823460T>G	TOPMed
CDH1	P12830	p.Asn666His	RCV000165090	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823458A>C	ClinVar
CDH1	P12830	p.Asn666His	RCV000679568	missense variant	-	NC_000016.10:g.68823458A>C	ClinVar
CDH1	P12830	p.Asn666His	rs150427791	missense variant	-	NC_000016.10:g.68823458A>C	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Leu667Ter	RCV000810597	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823461del	ClinVar
CDH1	P12830	p.Leu667Ter	RCV000164640	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823461del	ClinVar
CDH1	P12830	p.Leu667Phe	RCV000699936	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823461C>T	ClinVar
CDH1	P12830	p.Leu667Ter	RCV000376724	frameshift	-	NC_000016.10:g.68823461del	ClinVar
CDH1	P12830	p.Lys668Ter	COSM1479034	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68823464A>T	NCI-TCGA Cosmic
CDH1	P12830	p.Leu669Phe	RCV000705015	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823467C>T	ClinVar
CDH1	P12830	p.Leu669Val	RCV000639214	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823467C>G	ClinVar
CDH1	P12830	p.Leu669Ile	RCV000701262	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823467C>A	ClinVar
CDH1	P12830	p.Leu669Val	rs1490366214	missense variant	-	NC_000016.10:g.68823467C>G	gnomAD
CDH1	P12830	p.Leu669Phe	rs1490366214	missense variant	-	NC_000016.10:g.68823467C>T	gnomAD
CDH1	P12830	p.Met670Val	RCV000467277	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823470A>G	ClinVar
CDH1	P12830	p.Met670Thr	RCV000214785	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823471T>C	ClinVar
CDH1	P12830	p.Met670Thr	rs773006015	missense variant	-	NC_000016.10:g.68823471T>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Met670Thr	RCV000808326	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823471T>C	ClinVar
CDH1	P12830	p.Met670Val	rs876660107	missense variant	-	NC_000016.10:g.68823470A>G	gnomAD
CDH1	P12830	p.Met670Val	RCV000220503	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823470A>G	ClinVar
CDH1	P12830	p.Met670Val	RCV000481368	missense variant	-	NC_000016.10:g.68823470A>G	ClinVar
CDH1	P12830	p.Gln673Lys	RCV000459635	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823479C>A	ClinVar
CDH1	P12830	p.Gln673Lys	RCV000212377	missense variant	-	NC_000016.10:g.68823479C>A	ClinVar
CDH1	P12830	p.Gln673Lys	RCV000589626	missense variant	-	NC_000016.10:g.68823479C>A	ClinVar
CDH1	P12830	p.Gln673Lys	RCV000129870	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823479C>A	ClinVar
CDH1	P12830	p.Gln673Ter	COSM5563880	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68823479C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Gln673Lys	rs587781701	missense variant	-	NC_000016.10:g.68823479C>A	ExAC,gnomAD
CDH1	P12830	p.Asn674Tyr	rs201637081	missense variant	-	NC_000016.10:g.68823482A>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn674Tyr	RCV000131485	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823482A>T	ClinVar
CDH1	P12830	p.Lys675Arg	rs876660230	missense variant	-	NC_000016.10:g.68823486A>G	-
CDH1	P12830	p.Lys675Arg	RCV000214763	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823486A>G	ClinVar
CDH1	P12830	p.Lys675Arg	RCV000807275	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823486A>G	ClinVar
CDH1	P12830	p.Asp676Asn	rs115408226	missense variant	-	NC_000016.10:g.68823488G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp676Glu	RCV000505788	missense variant	Ectropion inferior cleft lip and or palate (BCDS1)	NC_000016.10:g.68823490C>A	ClinVar
CDH1	P12830	p.Asp676Glu	rs1555517099	missense variant	-	NC_000016.10:g.68823490C>A	-
CDH1	P12830	p.Asp676Tyr	rs115408226	missense variant	-	NC_000016.10:g.68823488G>T	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp676Asn	RCV000160396	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823488G>A	ClinVar
CDH1	P12830	p.Asp676Asn	RCV000212379	missense variant	-	NC_000016.10:g.68823488G>A	ClinVar
CDH1	P12830	p.Asp676Asn	RCV000168234	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823488G>A	ClinVar
CDH1	P12830	p.Gln677Ter	RCV000566615	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823491dup	ClinVar
CDH1	P12830	p.Val678Ala	RCV000218033	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823495T>C	ClinVar
CDH1	P12830	p.Val678Leu	rs764788846	missense variant	-	NC_000016.10:g.68823494G>C	ExAC,gnomAD
CDH1	P12830	p.Val678Ala	rs876659352	missense variant	-	NC_000016.10:g.68823495T>C	-
CDH1	P12830	p.Thr679AspPheSerTerUnk	COSM1479035	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68823494_68823495insT	NCI-TCGA Cosmic
CDH1	P12830	p.Thr680Ala	RCV000213812	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823500A>G	ClinVar
CDH1	P12830	p.Thr680Ala	RCV000460790	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823500A>G	ClinVar
CDH1	P12830	p.Thr680Ala	rs876658936	missense variant	-	NC_000016.10:g.68823500A>G	-
CDH1	P12830	p.Val683Ile	rs758872535	missense variant	-	NC_000016.10:g.68823509G>A	ExAC,gnomAD
CDH1	P12830	p.Ser684Gly	RCV000553035	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823512A>G	ClinVar
CDH1	P12830	p.Ser684Gly	rs1407001897	missense variant	-	NC_000016.10:g.68823512A>G	gnomAD
CDH1	P12830	p.Val685Leu	RCV000703993	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823515G>C	ClinVar
CDH1	P12830	p.Val685Met	RCV000120501	missense variant	-	NC_000016.10:g.68823515G>A	ClinVar
CDH1	P12830	p.Val685Met	rs550612843	missense variant	-	NC_000016.10:g.68823515G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val685Leu	RCV000215976	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823515G>C	ClinVar
CDH1	P12830	p.Val685Leu	rs550612843	missense variant	-	NC_000016.10:g.68823515G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Cys686Gly	rs1555517113	missense variant	-	NC_000016.10:g.68823518T>G	-
CDH1	P12830	p.Cys686Gly	RCV000579846	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823518T>G	ClinVar
CDH1	P12830	p.Cys686Tyr	rs1401120990	missense variant	-	NC_000016.10:g.68823519G>A	gnomAD
CDH1	P12830	p.Cys686Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68823518T>C	NCI-TCGA
CDH1	P12830	p.Asp687Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68823521G>A	NCI-TCGA
CDH1	P12830	p.Asp687His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68823521G>C	NCI-TCGA
CDH1	P12830	p.Cys688Ter	RCV000507739	nonsense	-	NC_000016.10:g.68823524_68823525TG[1]	ClinVar
CDH1	P12830	p.Cys688Ter	RCV000128928	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823524_68823525TG[1]	ClinVar
CDH1	P12830	p.Cys688Ter	RCV000168178	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823524_68823525TG[1]	ClinVar
CDH1	P12830	p.CysGlu688Ter	rs587781276	stop gained	-	NC_000016.10:g.68823526_68823527del	TOPMed
CDH1	P12830	p.Gly690Glu	rs1272471005	missense variant	-	NC_000016.10:g.68823531G>A	gnomAD
CDH1	P12830	p.Ala691Thr	RCV000225820	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823533G>A	ClinVar
CDH1	P12830	p.Ala691Asp	RCV000574645	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823534C>A	ClinVar
CDH1	P12830	p.Ala691Thr	rs876660560	missense variant	-	NC_000016.10:g.68823533G>A	TOPMed,gnomAD
CDH1	P12830	p.Ala691Asp	rs569086883	missense variant	-	NC_000016.10:g.68823534C>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala691Thr	RCV000216757	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823533G>A	ClinVar
CDH1	P12830	p.Ala691Asp	RCV000522062	missense variant	-	NC_000016.10:g.68823534C>A	ClinVar
CDH1	P12830	p.Ala691Asp	RCV000541735	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823534C>A	ClinVar
CDH1	P12830	p.Ala692Thr	rs1064794090	missense variant	-	NC_000016.10:g.68823536_68823538delinsACC	-
CDH1	P12830	p.Ala692Thr	RCV000120502	missense variant	-	NC_000016.10:g.68823536G>A	ClinVar
CDH1	P12830	p.Ala692Thr	rs376854556	missense variant	-	NC_000016.10:g.68823536G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala692Ser	rs376854556	missense variant	-	NC_000016.10:g.68823536G>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala692Thr	RCV000478155	missense variant	-	NC_000016.10:g.68823536_68823538delinsACC	ClinVar
CDH1	P12830	p.Gly693Ter	RCV000221412	frameshift	-	NC_000016.10:g.68823538_68823539del	ClinVar
CDH1	P12830	p.Gly693Ser	rs386833398	missense variant	-	NC_000016.10:g.68823539G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gly693Ser	RCV000129247	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823539G>A	ClinVar
CDH1	P12830	p.Val694Ile	rs587780118	missense variant	-	NC_000016.10:g.68823542G>A	gnomAD
CDH1	P12830	p.Val694Ile	RCV000222804	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823542G>A	ClinVar
CDH1	P12830	p.Lys697Glu	RCV000580064	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823551A>G	ClinVar
CDH1	P12830	p.Lys697Glu	rs1555517126	missense variant	-	NC_000016.10:g.68823551A>G	-
CDH1	P12830	p.Ala698Val	RCV000483072	missense variant	-	NC_000016.10:g.68823555C>T	ClinVar
CDH1	P12830	p.Ala698Pro	RCV000771206	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823554G>C	ClinVar
CDH1	P12830	p.Ala698Thr	rs1167040681	missense variant	-	NC_000016.10:g.68823554G>A	gnomAD
CDH1	P12830	p.Ala698Val	RCV000811072	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823555C>T	ClinVar
CDH1	P12830	p.Ala698Val	rs1064795359	missense variant	-	NC_000016.10:g.68823555C>T	-
CDH1	P12830	p.Ala698Ser	rs1167040681	missense variant	-	NC_000016.10:g.68823554G>T	gnomAD
CDH1	P12830	p.Gln699Ter	RCV000013024	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823557C>T	ClinVar
CDH1	P12830	p.Gln699Glu	RCV000132483	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823557C>G	ClinVar
CDH1	P12830	p.Gln699Glu	rs121964874	missense variant	-	NC_000016.10:g.68823557C>G	ExAC,gnomAD
CDH1	P12830	p.Gln699Ter	rs121964874	stop gained	-	NC_000016.10:g.68823557C>T	ExAC,gnomAD
CDH1	P12830	p.Gln699Lys	rs121964874	missense variant	-	NC_000016.10:g.68823557C>A	ExAC,gnomAD
CDH1	P12830	p.Pro700Thr	RCV000569207	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823560C>A	ClinVar
CDH1	P12830	p.Pro700Thr	RCV000470718	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823560C>A	ClinVar
CDH1	P12830	p.Pro700Ala	RCV000229798	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823560C>G	ClinVar
CDH1	P12830	p.Pro700Thr	rs878854681	missense variant	-	NC_000016.10:g.68823560C>A	TOPMed,gnomAD
CDH1	P12830	p.Pro700Ala	rs878854681	missense variant	-	NC_000016.10:g.68823560C>G	TOPMed,gnomAD
CDH1	P12830	p.Val701Ter	RCV000583312	frameshift	-	NC_000016.10:g.68823562del	ClinVar
CDH1	P12830	p.Val701Leu	rs1426734014	missense variant	-	NC_000016.10:g.68823563G>C	gnomAD
CDH1	P12830	p.Val701Ile	rs1426734014	missense variant	-	NC_000016.10:g.68823563G>A	gnomAD
CDH1	P12830	p.Val701Ter	RCV000639209	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823562del	ClinVar
CDH1	P12830	p.Val701Ile	RCV000566347	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823563G>A	ClinVar
CDH1	P12830	p.Val701Phe	rs1426734014	missense variant	-	NC_000016.10:g.68823563G>T	gnomAD
CDH1	P12830	p.Glu702Gln	RCV000561482	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823566G>C	ClinVar
CDH1	P12830	p.Glu702Gln	RCV000480639	missense variant	-	NC_000016.10:g.68823566G>C	ClinVar
CDH1	P12830	p.Glu702Lys	RCV000588944	missense variant	-	NC_000016.10:g.68823566G>A	ClinVar
CDH1	P12830	p.Glu702Ter	RCV000530851	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823566G>T	ClinVar
CDH1	P12830	p.Glu702Gln	RCV000695360	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823566G>C	ClinVar
CDH1	P12830	p.Glu702Gln	rs149127230	missense variant	-	NC_000016.10:g.68823566G>C	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu702Lys	rs149127230	missense variant	-	NC_000016.10:g.68823566G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu702Ter	rs149127230	stop gained	-	NC_000016.10:g.68823566G>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala703Val	RCV000222037	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823570C>T	ClinVar
CDH1	P12830	p.Ala703Val	rs876658987	missense variant	-	NC_000016.10:g.68823570C>T	-
CDH1	P12830	p.Gly704Arg	RCV000704119	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823572G>A	ClinVar
CDH1	P12830	p.Leu705Phe	rs759256066	missense variant	-	NC_000016.10:g.68823577G>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gln706Arg	RCV000129251	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823579A>G	ClinVar
CDH1	P12830	p.Gln706Arg	RCV000639231	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823579A>G	ClinVar
CDH1	P12830	p.Gln706Arg	rs587781401	missense variant	-	NC_000016.10:g.68823579A>G	-
CDH1	P12830	p.Pro708Thr	RCV000471426	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823584C>A	ClinVar
CDH1	P12830	p.Pro708LeuPheSerTerUnkUnk	COSM435607	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68823582T>-	NCI-TCGA Cosmic
CDH1	P12830	p.Pro708Thr	rs1060501233	missense variant	-	NC_000016.10:g.68823584C>A	-
CDH1	P12830	p.Ala709Ser	rs138101372	missense variant	-	NC_000016.10:g.68823587G>T	ESP,ExAC,gnomAD
CDH1	P12830	p.Ile710Leu	rs876660625	missense variant	-	NC_000016.10:g.68823590A>C	gnomAD
CDH1	P12830	p.Ile710Val	rs876660625	missense variant	-	NC_000016.10:g.68823590A>G	gnomAD
CDH1	P12830	p.Ile710Leu	RCV000219281	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823590A>C	ClinVar
CDH1	P12830	p.Leu711Val	RCV000130551	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823593C>G	ClinVar
CDH1	P12830	p.Leu711Val	RCV000382368	missense variant	-	NC_000016.10:g.68823593C>G	ClinVar
CDH1	P12830	p.Leu711Val	RCV000196099	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823593C>G	ClinVar
CDH1	P12830	p.Leu711Val	rs121964871	missense variant	-	NC_000016.10:g.68823593C>G	UniProt,dbSNP
CDH1	P12830	p.Leu711Val	VAR_001321	missense variant	-	NC_000016.10:g.68823593C>G	UniProt
CDH1	P12830	p.Leu711Val	rs121964871	missense variant	-	NC_000016.10:g.68823593C>G	TOPMed,gnomAD
CDH1	P12830	p.Gly712Val	rs1385460487	missense variant	-	NC_000016.10:g.68823597G>T	gnomAD
CDH1	P12830	p.Ile713Phe	RCV000580740	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823599A>T	ClinVar
CDH1	P12830	p.Ile713Thr	RCV000777552	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823600T>C	ClinVar
CDH1	P12830	p.Ile713Phe	rs1289236005	missense variant	-	NC_000016.10:g.68823599A>T	gnomAD
CDH1	P12830	p.Gly715Ter	RCV000584408	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823606del	ClinVar
CDH1	P12830	p.Gly715Glu	rs1358094794	missense variant	-	NC_000016.10:g.68823606G>A	gnomAD
CDH1	P12830	p.Ile717Met	RCV000561368	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823613T>G	ClinVar
CDH1	P12830	p.Ile717Met	rs1205147360	missense variant	-	NC_000016.10:g.68823613T>G	gnomAD
CDH1	P12830	p.Leu718Val	RCV000214616	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68823614C>G	ClinVar
CDH1	P12830	p.Leu718Ile	rs876658591	missense variant	-	NC_000016.10:g.68823614C>A	TOPMed,gnomAD
CDH1	P12830	p.Leu718Ile	RCV000213313	missense variant	-	NC_000016.10:g.68823614C>A	ClinVar
CDH1	P12830	p.Leu718Val	rs876658591	missense variant	-	NC_000016.10:g.68823614C>G	TOPMed,gnomAD
CDH1	P12830	p.Ala719Val	COSM3511254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68823618C>T	NCI-TCGA Cosmic
CDH1	P12830	p.Ala719Thr	rs764703133	missense variant	-	NC_000016.10:g.68823617G>A	ExAC,gnomAD
CDH1	P12830	p.Ala719Asp	rs752041032	missense variant	-	NC_000016.10:g.68823618C>A	ExAC,gnomAD
CDH1	P12830	p.Leu720Val	rs1181973072	missense variant	-	NC_000016.10:g.68823620T>G	gnomAD
CDH1	P12830	p.Leu721Val	RCV000736286	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68823623C>G	ClinVar
CDH1	P12830	p.Ile722Thr	rs878854682	missense variant	-	NC_000016.10:g.68828174T>C	-
CDH1	P12830	p.Ile722Thr	RCV000232644	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828174T>C	ClinVar
CDH1	P12830	p.Leu727Phe	rs578069093	missense variant	-	NC_000016.10:g.68828188C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Leu727Phe	RCV000575210	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828188C>T	ClinVar
CDH1	P12830	p.Leu727Phe	RCV000544825	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828188C>T	ClinVar
CDH1	P12830	p.Leu727Phe	RCV000589724	missense variant	-	NC_000016.10:g.68828188C>T	ClinVar
CDH1	P12830	p.Leu729Pro	RCV000699295	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828195T>C	ClinVar
CDH1	P12830	p.Leu731PhePheSerTerUnkUnk	COSM5833154	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68828200C>-	NCI-TCGA Cosmic
CDH1	P12830	p.Leu731GlyPheSerTerUnkUnk	COSM5833153	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68828197_68828200TTTC>-	NCI-TCGA Cosmic
CDH1	P12830	p.Leu731Phe	rs1060501235	missense variant	-	NC_000016.10:g.68828200C>T	-
CDH1	P12830	p.Leu731Phe	RCV000475537	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828200C>T	ClinVar
CDH1	P12830	p.Arg732Trp	RCV000569039	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828203C>T	ClinVar
CDH1	P12830	p.Arg732Trp	RCV000203693	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828203C>T	ClinVar
CDH1	P12830	p.Arg732Trp	rs864622198	missense variant	-	NC_000016.10:g.68828203C>T	TOPMed,gnomAD
CDH1	P12830	p.Arg732Gln	rs1060501244	missense variant	-	NC_000016.10:g.68828204G>A	gnomAD
CDH1	P12830	p.Arg732Gln	RCV000475163	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828204G>A	ClinVar
CDH1	P12830	p.Arg732Leu	rs1060501244	missense variant	-	NC_000016.10:g.68828204G>T	gnomAD
CDH1	P12830	p.Arg734Thr	RCV000561514	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828210G>C	ClinVar
CDH1	P12830	p.Arg734Thr	RCV000480068	missense variant	-	NC_000016.10:g.68828210G>C	ClinVar
CDH1	P12830	p.Arg734Thr	RCV000196295	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828210G>C	ClinVar
CDH1	P12830	p.Arg734Ile	RCV000130171	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828210G>T	ClinVar
CDH1	P12830	p.Arg734Ser	rs745717070	missense variant	-	NC_000016.10:g.68828211A>T	ExAC,gnomAD
CDH1	P12830	p.Arg734Ile	rs587781859	missense variant	-	NC_000016.10:g.68828210G>T	TOPMed,gnomAD
CDH1	P12830	p.Arg734Ser	RCV000538100	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828211A>T	ClinVar
CDH1	P12830	p.Arg734Ser	RCV000567522	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828211A>T	ClinVar
CDH1	P12830	p.Arg734Thr	rs587781859	missense variant	-	NC_000016.10:g.68828210G>C	TOPMed,gnomAD
CDH1	P12830	p.Ala735Val	RCV000206685	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828213C>T	ClinVar
CDH1	P12830	p.Ala735Val	RCV000656824	missense variant	-	NC_000016.10:g.68828213C>T	ClinVar
CDH1	P12830	p.Ala735Val	RCV000212382	missense variant	-	NC_000016.10:g.68828213C>T	ClinVar
CDH1	P12830	p.Ala735Val	rs587782464	missense variant	-	NC_000016.10:g.68828213C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala735Gly	rs587782464	missense variant	-	NC_000016.10:g.68828213C>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala735Glu	RCV000775805	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828213C>A	ClinVar
CDH1	P12830	p.Ala735Val	RCV000131554	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828213C>T	ClinVar
CDH1	P12830	p.Ala735Glu	RCV000460180	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828213C>A	ClinVar
CDH1	P12830	p.Ala735Glu	rs587782464	missense variant	-	NC_000016.10:g.68828213C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val737Ile	RCV000582177	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828218G>A	ClinVar
CDH1	P12830	p.Val737Ile	rs1555517644	missense variant	-	NC_000016.10:g.68828218G>A	-
CDH1	P12830	p.Lys738Arg	rs768163102	missense variant	-	NC_000016.10:g.68828222A>G	ExAC,gnomAD
CDH1	P12830	p.Glu739Gly	RCV000548418	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828225A>G	ClinVar
CDH1	P12830	p.Glu739Gly	rs1555517647	missense variant	-	NC_000016.10:g.68828225A>G	-
CDH1	P12830	p.Pro740Ser	RCV000525737	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828227C>T	ClinVar
CDH1	P12830	p.Pro740His	RCV000335165	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828228C>A	ClinVar
CDH1	P12830	p.Pro740Ala	RCV000570624	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828227C>G	ClinVar
CDH1	P12830	p.Pro740Ser	RCV000567386	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828227C>T	ClinVar
CDH1	P12830	p.Pro740Ser	RCV000586796	missense variant	-	NC_000016.10:g.68828227C>T	ClinVar
CDH1	P12830	p.Pro740Ala	rs773795943	missense variant	-	NC_000016.10:g.68828227C>G	ExAC,gnomAD
CDH1	P12830	p.Pro740Ser	rs773795943	missense variant	-	NC_000016.10:g.68828227C>T	ExAC,gnomAD
CDH1	P12830	p.Pro740His	RCV000160397	missense variant	-	NC_000016.10:g.68828228C>A	ClinVar
CDH1	P12830	p.Pro740His	RCV000221772	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828228C>A	ClinVar
CDH1	P12830	p.Pro740His	rs730881669	missense variant	-	NC_000016.10:g.68828228C>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Pro743Thr	rs786203005	missense variant	-	NC_000016.10:g.68828236C>A	gnomAD
CDH1	P12830	p.Pro743Ser	rs786203005	missense variant	-	NC_000016.10:g.68828236C>T	gnomAD
CDH1	P12830	p.Pro743Ser	RCV000166116	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828236C>T	ClinVar
CDH1	P12830	p.Pro743Ala	rs786203005	missense variant	-	NC_000016.10:g.68828236C>G	gnomAD
CDH1	P12830	p.Pro743Thr	RCV000639227	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828236C>A	ClinVar
CDH1	P12830	p.Pro743Thr	RCV000572929	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828236C>A	ClinVar
CDH1	P12830	p.Pro743Ala	RCV000222818	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828236C>G	ClinVar
CDH1	P12830	p.Pro744Leu	RCV000759014	missense variant	-	NC_000016.10:g.68828240C>T	ClinVar
CDH1	P12830	p.Pro744Leu	rs1001200905	missense variant	-	NC_000016.10:g.68828240C>T	TOPMed
CDH1	P12830	p.Pro744Ser	rs761146693	missense variant	-	NC_000016.10:g.68828239C>T	ExAC,gnomAD
CDH1	P12830	p.Pro744Leu	RCV000462140	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828240C>T	ClinVar
CDH1	P12830	p.Glu745Asp	RCV000695844	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828244G>T	ClinVar
CDH1	P12830	p.Asp746Gly	rs1408841952	missense variant	-	NC_000016.10:g.68828246A>G	gnomAD
CDH1	P12830	p.Asp746Gly	RCV000572586	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828246A>G	ClinVar
CDH1	P12830	p.Asp746Asn	rs766636655	missense variant	-	NC_000016.10:g.68828245G>A	ExAC,gnomAD
CDH1	P12830	p.Asp747Asn	RCV000579596	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828248G>A	ClinVar
CDH1	P12830	p.Asp747Asn	rs769819324	missense variant	-	NC_000016.10:g.68828248G>A	-
CDH1	P12830	p.Asp747Gly	RCV000461277	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828249A>G	ClinVar
CDH1	P12830	p.Asp747Gly	rs1060501222	missense variant	-	NC_000016.10:g.68828249A>G	-
CDH1	P12830	p.Thr748Asn	RCV000568319	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828252C>A	ClinVar
CDH1	P12830	p.Thr748Asn	RCV000528425	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828252C>A	ClinVar
CDH1	P12830	p.Thr748Ser	RCV000781216	missense variant	-	NC_000016.10:g.68828252C>G	ClinVar
CDH1	P12830	p.Thr748Ser	RCV000538680	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828252C>G	ClinVar
CDH1	P12830	p.Thr748Ser	rs1555517660	missense variant	-	NC_000016.10:g.68828252C>G	-
CDH1	P12830	p.Thr748Asn	rs1555517660	missense variant	-	NC_000016.10:g.68828252C>A	-
CDH1	P12830	p.Arg749Trp	RCV000479819	missense variant	-	NC_000016.10:g.68828254C>T	ClinVar
CDH1	P12830	p.Arg749Trp	RCV000663000	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828254C>T	ClinVar
CDH1	P12830	p.Arg749Trp	RCV000774774	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828254C>T	ClinVar
CDH1	P12830	p.Arg749Gln	RCV000123244	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828255G>A	ClinVar
CDH1	P12830	p.Arg749Gln	RCV000164201	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828255G>A	ClinVar
CDH1	P12830	p.Arg749Gln	RCV000657030	missense variant	-	NC_000016.10:g.68828255G>A	ClinVar
CDH1	P12830	p.Arg749Gln	rs530717933	missense variant	-	NC_000016.10:g.68828255G>A	TOPMed,gnomAD
CDH1	P12830	p.Arg749Trp	rs776975632	missense variant	-	NC_000016.10:g.68828254C>T	ExAC,TOPMed
CDH1	P12830	p.Arg749Gln	RCV000120503	missense variant	-	NC_000016.10:g.68828255G>A	ClinVar
CDH1	P12830	p.Asp750Asn	RCV000690254	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828257G>A	ClinVar
CDH1	P12830	p.Asp750Gly	rs759608783	missense variant	-	NC_000016.10:g.68828258A>G	ExAC,gnomAD
CDH1	P12830	p.Asp750Gly	RCV000554709	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828258A>G	ClinVar
CDH1	P12830	p.Asp750Gly	RCV000216187	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828258A>G	ClinVar
CDH1	P12830	p.Asn751Lys	rs33964119	missense variant	-	NC_000016.10:g.68828262C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asn751Lys	rs33964119	missense variant	-	NC_000016.10:g.68828262C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val752Ile	RCV000229329	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828263G>A	ClinVar
CDH1	P12830	p.Val752Ile	RCV000129135	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828263G>A	ClinVar
CDH1	P12830	p.Val752Ile	RCV000479491	missense variant	-	NC_000016.10:g.68828263G>A	ClinVar
CDH1	P12830	p.Val752Ile	rs587781351	missense variant	-	NC_000016.10:g.68828263G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val752Leu	rs587781351	missense variant	-	NC_000016.10:g.68828263G>C	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Tyr754Cys	RCV000411136	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828270A>G	ClinVar
CDH1	P12830	p.Tyr754Cys	RCV000165420	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828270A>G	ClinVar
CDH1	P12830	p.Tyr754Cys	RCV000485531	missense variant	-	NC_000016.10:g.68828270A>G	ClinVar
CDH1	P12830	p.Tyr754Cys	rs767613429	missense variant	-	NC_000016.10:g.68828270A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Tyr754Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68828271C>G	NCI-TCGA
CDH1	P12830	p.Tyr754AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68828233_68828234insTGCCCCCAGAGGATGACACCCGGGACAACGTTTA	NCI-TCGA
CDH1	P12830	p.Tyr755Cys	RCV000128868	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828273A>G	ClinVar
CDH1	P12830	p.Tyr755Cys	RCV000759727	missense variant	-	NC_000016.10:g.68828273A>G	ClinVar
CDH1	P12830	p.Tyr755Ter	RCV000736287	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828274T>A	ClinVar
CDH1	P12830	p.Tyr755Cys	RCV000818773	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828273A>G	ClinVar
CDH1	P12830	p.Tyr755Cys	rs187289510	missense variant	-	NC_000016.10:g.68828273A>G	1000Genomes,ExAC,gnomAD
CDH1	P12830	p.Asp756His	RCV000639256	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828275G>C	ClinVar
CDH1	P12830	p.Asp756Glu	RCV000692039	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828277T>G	ClinVar
CDH1	P12830	p.Asp756His	rs1555517677	missense variant	-	NC_000016.10:g.68828275G>C	-
CDH1	P12830	p.Glu757Lys	rs1064794232	missense variant	-	NC_000016.10:g.68828278G>A	-
CDH1	P12830	p.Glu757Lys	RCV000478876	missense variant	-	NC_000016.10:g.68828278G>A	ClinVar
CDH1	P12830	p.Glu757Lys	RCV000694526	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828278G>A	ClinVar
CDH1	P12830	p.Glu757MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68828275_68828276insAT	NCI-TCGA
CDH1	P12830	p.Glu757Ter	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68828276_68828277insT	NCI-TCGA
CDH1	P12830	p.Glu758Ter	RCV000639210	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828281G>T	ClinVar
CDH1	P12830	p.Glu758Lys	rs786202785	missense variant	-	NC_000016.10:g.68828281G>A	-
CDH1	P12830	p.Glu758Lys	RCV000165772	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828281G>A	ClinVar
CDH1	P12830	p.Gly759Ala	RCV000568881	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828285G>C	ClinVar
CDH1	P12830	p.Gly759Ter	RCV000657197	frameshift	-	NC_000016.10:g.68828285del	ClinVar
CDH1	P12830	p.Gly759Ala	rs945866627	missense variant	-	NC_000016.10:g.68828285G>C	TOPMed,gnomAD
CDH1	P12830	p.Gly759Ala	RCV000639253	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828285G>C	ClinVar
CDH1	P12830	p.Gly761Ala	RCV000807990	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828291G>C	ClinVar
CDH1	P12830	p.Gly761Arg	RCV000492622	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828290G>A	ClinVar
CDH1	P12830	p.Gly761Arg	rs779648243	missense variant	-	NC_000016.10:g.68828290G>A	ExAC,gnomAD
CDH1	P12830	p.Gly761Glu	RCV000571214	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828291G>A	ClinVar
CDH1	P12830	p.Gly761Ala	RCV000214313	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828291G>C	ClinVar
CDH1	P12830	p.Gly761Arg	RCV000462218	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828290G>A	ClinVar
CDH1	P12830	p.Gly761Ala	rs876659664	missense variant	-	NC_000016.10:g.68828291G>C	TOPMed
CDH1	P12830	p.Gly761Glu	rs876659664	missense variant	-	NC_000016.10:g.68828291G>A	TOPMed
CDH1	P12830	p.Glu763Ter	RCV000568475	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828296G>T	ClinVar
CDH1	P12830	p.Glu763Ter	RCV000223099	nonsense	-	NC_000016.10:g.68828296G>T	ClinVar
CDH1	P12830	p.Glu763Ter	rs587780787	stop gained	-	NC_000016.10:g.68828296G>T	-
CDH1	P12830	p.Asp764GlyPheSerTerUnk	COSM5833156	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68828297_68828298insG	NCI-TCGA Cosmic
CDH1	P12830	p.Asp764Glu	RCV000215264	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828301C>A	ClinVar
CDH1	P12830	p.Asp764Gly	RCV000553785	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828300A>G	ClinVar
CDH1	P12830	p.Asp764Glu	rs61747636	missense variant	-	NC_000016.10:g.68828301C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp764Gly	rs1555517687	missense variant	-	NC_000016.10:g.68828300A>G	-
CDH1	P12830	p.Gln765Ter	rs876658575	stop gained	-	NC_000016.10:g.68828302C>T	-
CDH1	P12830	p.Gln765Ter	RCV000709398	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68828302C>T	ClinVar
CDH1	P12830	p.Gln765Ter	RCV000222740	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68828302C>T	ClinVar
CDH1	P12830	p.Gln765ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68828300_68828301insC	NCI-TCGA
CDH1	P12830	p.Asp766His	rs1471460728	missense variant	-	NC_000016.10:g.68829654G>C	TOPMed
CDH1	P12830	p.Asp768Asn	RCV000473327	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829660G>A	ClinVar
CDH1	P12830	p.Asp768Asn	RCV000164575	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829660G>A	ClinVar
CDH1	P12830	p.Asp768Asn	rs786201999	missense variant	-	NC_000016.10:g.68829660G>A	TOPMed,gnomAD
CDH1	P12830	p.Asp768Glu	rs1445658216	missense variant	-	NC_000016.10:g.68829662C>G	gnomAD
CDH1	P12830	p.Leu769Val	RCV000566098	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829663T>G	ClinVar
CDH1	P12830	p.Leu769Val	rs766222121	missense variant	-	NC_000016.10:g.68829663T>G	ExAC,gnomAD
CDH1	P12830	p.Gln771Ter	RCV000492719	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829669C>T	ClinVar
CDH1	P12830	p.Gln771Arg	rs1182000968	missense variant	-	NC_000016.10:g.68829670A>G	TOPMed
CDH1	P12830	p.Gln771Ter	rs1131690813	stop gained	-	NC_000016.10:g.68829669C>T	-
CDH1	P12830	p.His773Tyr	RCV000566685	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829675C>T	ClinVar
CDH1	P12830	p.His773Arg	RCV000212384	missense variant	-	NC_000016.10:g.68829676A>G	ClinVar
CDH1	P12830	p.His773Arg	rs587782823	missense variant	-	NC_000016.10:g.68829676A>G	TOPMed,gnomAD
CDH1	P12830	p.His773Arg	RCV000132399	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829676A>G	ClinVar
CDH1	P12830	p.His773Arg	RCV000459654	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829676A>G	ClinVar
CDH1	P12830	p.His773Tyr	rs1555517823	missense variant	-	NC_000016.10:g.68829675C>T	-
CDH1	P12830	p.Arg774Gly	RCV000483919	missense variant	-	NC_000016.10:g.68829678A>G	ClinVar
CDH1	P12830	p.Arg774Gly	RCV000639284	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829678A>G	ClinVar
CDH1	P12830	p.Arg774Gly	RCV000570862	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829678A>G	ClinVar
CDH1	P12830	p.Arg774Gly	rs753540183	missense variant	-	NC_000016.10:g.68829678A>G	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gly775Asp	RCV000773343	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829682G>A	ClinVar
CDH1	P12830	p.Gly775Ter	RCV000464624	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829682del	ClinVar
CDH1	P12830	p.Gly775AlaPheSerTerUnk	COSM1180831	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68829679G>-	NCI-TCGA Cosmic
CDH1	P12830	p.Gly775Ser	RCV000532237	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829681G>A	ClinVar
CDH1	P12830	p.Gly775Val	rs778581202	missense variant	-	NC_000016.10:g.68829682G>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gly775Ser	rs1163417116	missense variant	-	NC_000016.10:g.68829681G>A	gnomAD
CDH1	P12830	p.Leu776Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68829684C>A	NCI-TCGA
CDH1	P12830	p.Asp777Glu	RCV000561784	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829689C>G	ClinVar
CDH1	P12830	p.Asp777Asn	RCV000206674	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829687G>A	ClinVar
CDH1	P12830	p.Asp777Glu	RCV000463537	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829689C>G	ClinVar
CDH1	P12830	p.Asp777Asn	RCV000487740	missense variant	-	NC_000016.10:g.68829687G>A	ClinVar
CDH1	P12830	p.Asp777Glu	rs114265540	missense variant	-	NC_000016.10:g.68829689C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp777Asn	rs372989292	missense variant	-	NC_000016.10:g.68829687G>A	UniProt,dbSNP
CDH1	P12830	p.Asp777Asn	VAR_033027	missense variant	-	NC_000016.10:g.68829687G>A	UniProt
CDH1	P12830	p.Asp777Asn	rs372989292	missense variant	-	NC_000016.10:g.68829687G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala778Gly	RCV000664263	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829691C>G	ClinVar
CDH1	P12830	p.Ala778Thr	RCV000233980	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829690G>A	ClinVar
CDH1	P12830	p.Ala778Thr	rs777078601	missense variant	-	NC_000016.10:g.68829690G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala778Asp	rs876659951	missense variant	-	NC_000016.10:g.68829691C>A	TOPMed
CDH1	P12830	p.Ala778Asp	RCV000573911	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829691C>A	ClinVar
CDH1	P12830	p.Ala778Val	RCV000218359	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829691C>T	ClinVar
CDH1	P12830	p.Ala778Thr	RCV000562000	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829690G>A	ClinVar
CDH1	P12830	p.Ala778Gly	rs876659951	missense variant	-	NC_000016.10:g.68829691C>G	TOPMed
CDH1	P12830	p.Ala778Val	rs876659951	missense variant	-	NC_000016.10:g.68829691C>T	TOPMed
CDH1	P12830	p.Arg779Trp	RCV000780099	missense variant	-	NC_000016.10:g.68829693C>T	ClinVar
CDH1	P12830	p.Arg779Gln	RCV000212385	missense variant	-	NC_000016.10:g.68829694G>A	ClinVar
CDH1	P12830	p.Arg779Trp	RCV000218940	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829693C>T	ClinVar
CDH1	P12830	p.Arg779Trp	RCV000484296	missense variant	-	NC_000016.10:g.68829693C>T	ClinVar
CDH1	P12830	p.Arg779Gln	RCV000227820	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829694G>A	ClinVar
CDH1	P12830	p.Arg779Gln	rs587781311	missense variant	-	NC_000016.10:g.68829694G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg779Trp	rs876660183	missense variant	-	NC_000016.10:g.68829693C>T	-
CDH1	P12830	p.Arg779Trp	RCV000457635	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829693C>T	ClinVar
CDH1	P12830	p.Arg779Gln	RCV000129040	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829694G>A	ClinVar
CDH1	P12830	p.Pro780Leu	RCV000557378	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829697C>T	ClinVar
CDH1	P12830	p.Pro780Leu	rs1555517841	missense variant	-	NC_000016.10:g.68829697C>T	-
CDH1	P12830	p.Glu781Asp	RCV000225693	missense variant	-	NC_000016.10:g.68829701A>T	ClinVar
CDH1	P12830	p.Glu781Asp	RCV000761048	missense variant	Mixed Phenotype Acute Leukemia with t(v;11q23.3); KMT2A Rearranged	NC_000016.10:g.68829701A>T	ClinVar
CDH1	P12830	p.Glu781Asp	rs587780119	missense variant	-	NC_000016.10:g.68829701A>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu781Asp	RCV000780095	missense variant	-	NC_000016.10:g.68829701A>T	ClinVar
CDH1	P12830	p.Glu781Asp	RCV000234640	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829701A>T	ClinVar
CDH1	P12830	p.Val782Ala	rs746274636	missense variant	-	NC_000016.10:g.68829703T>C	ExAC,gnomAD
CDH1	P12830	p.Thr783Ile	RCV000217807	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829706C>T	ClinVar
CDH1	P12830	p.Thr783Ile	RCV000699151	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829706C>T	ClinVar
CDH1	P12830	p.Thr783Ile	rs876658467	missense variant	-	NC_000016.10:g.68829706C>T	TOPMed,gnomAD
CDH1	P12830	p.Arg784His	RCV000481744	missense variant	-	NC_000016.10:g.68829709G>A	ClinVar
CDH1	P12830	p.Arg784Cys	RCV000219916	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829708C>T	ClinVar
CDH1	P12830	p.Arg784His	RCV000563859	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829709G>A	ClinVar
CDH1	P12830	p.Arg784Pro	RCV000761165	missense variant	Papillary thyroid carcinoma	NC_000016.10:g.68829709G>C	ClinVar
CDH1	P12830	p.Arg784His	rs763203357	missense variant	-	NC_000016.10:g.68829709G>A	ExAC,gnomAD
CDH1	P12830	p.Arg784Cys	RCV000531308	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829708C>T	ClinVar
CDH1	P12830	p.Arg784His	RCV000204130	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829709G>A	ClinVar
CDH1	P12830	p.Arg784Cys	rs775922721	missense variant	-	NC_000016.10:g.68829708C>T	ExAC,gnomAD
CDH1	P12830	p.Asn785Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68829712A>G	NCI-TCGA
CDH1	P12830	p.Asp786Asn	RCV000471268	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829714G>A	ClinVar
CDH1	P12830	p.Asp786Asn	rs876659218	missense variant	-	NC_000016.10:g.68829714G>A	-
CDH1	P12830	p.Asp786Asn	RCV000214749	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829714G>A	ClinVar
CDH1	P12830	p.Val787Ile	RCV000168317	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829717G>A	ClinVar
CDH1	P12830	p.Val787Ile	RCV000165982	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829717G>A	ClinVar
CDH1	P12830	p.Val787Ile	rs766270336	missense variant	-	NC_000016.10:g.68829717G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala788Val	RCV000545072	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829721C>T	ClinVar
CDH1	P12830	p.Ala788Val	RCV000506194	missense variant	-	NC_000016.10:g.68829721C>T	ClinVar
CDH1	P12830	p.Ala788Val	RCV000129335	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829721C>T	ClinVar
CDH1	P12830	p.Ala788Val	rs139096339	missense variant	-	NC_000016.10:g.68829721C>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala788GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68829719_68829732TGCACCAACCCTCA>-	NCI-TCGA
CDH1	P12830	p.Pro789Leu	RCV000693109	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829724C>T	ClinVar
CDH1	P12830	p.Thr790Ile	RCV000212386	missense variant	-	NC_000016.10:g.68829727C>T	ClinVar
CDH1	P12830	p.Thr790Ile	RCV000115853	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829727C>T	ClinVar
CDH1	P12830	p.Thr790Ile	RCV000123246	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829727C>T	ClinVar
CDH1	P12830	p.Thr790Ile	rs587780120	missense variant	-	NC_000016.10:g.68829727C>T	TOPMed,gnomAD
CDH1	P12830	p.Leu791Phe	RCV000205557	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829729C>T	ClinVar
CDH1	P12830	p.Leu791Phe	RCV000165485	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829729C>T	ClinVar
CDH1	P12830	p.Leu791Phe	rs786202598	missense variant	-	NC_000016.10:g.68829729C>T	TOPMed,gnomAD
CDH1	P12830	p.Met792Val	RCV000693192	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829732A>G	ClinVar
CDH1	P12830	p.Met792Thr	RCV000566576	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829733T>C	ClinVar
CDH1	P12830	p.Met792Thr	RCV000706062	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829733T>C	ClinVar
CDH1	P12830	p.Met792Thr	RCV000482374	missense variant	-	NC_000016.10:g.68829733T>C	ClinVar
CDH1	P12830	p.Met792Leu	RCV000696925	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829732A>C	ClinVar
CDH1	P12830	p.Met792Val	RCV000222815	missense variant	-	NC_000016.10:g.68829732A>G	ClinVar
CDH1	P12830	p.Met792Thr	rs752349229	missense variant	-	NC_000016.10:g.68829733T>C	ExAC,gnomAD
CDH1	P12830	p.Met792Leu	rs759380419	missense variant	-	NC_000016.10:g.68829732A>C	ExAC,gnomAD
CDH1	P12830	p.Met792Val	rs759380419	missense variant	-	NC_000016.10:g.68829732A>G	ExAC,gnomAD
CDH1	P12830	p.Ser793Arg	RCV000166300	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829737T>G	ClinVar
CDH1	P12830	p.Ser793Arg	rs786203128	missense variant	-	NC_000016.10:g.68829737T>G	-
CDH1	P12830	p.Ser793Asn	rs1357766058	missense variant	-	NC_000016.10:g.68829736G>A	gnomAD
CDH1	P12830	p.Val794Ile	RCV000484196	missense variant	-	NC_000016.10:g.68829738G>A	ClinVar
CDH1	P12830	p.Val794Ile	RCV000131558	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829738G>A	ClinVar
CDH1	P12830	p.Val794Ala	RCV000559870	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829739T>C	ClinVar
CDH1	P12830	p.Val794Ala	rs1447544874	missense variant	-	NC_000016.10:g.68829739T>C	gnomAD
CDH1	P12830	p.Val794Ile	rs587782466	missense variant	-	NC_000016.10:g.68829738G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val794Ile	RCV000205207	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829738G>A	ClinVar
CDH1	P12830	p.Val794ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68829727_68829728insCCTCATGAGT	NCI-TCGA
CDH1	P12830	p.Pro795Arg	RCV000639242	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829742C>G	ClinVar
CDH1	P12830	p.Pro795Ser	rs1298997936	missense variant	-	NC_000016.10:g.68829741C>T	gnomAD
CDH1	P12830	p.Pro795Arg	rs1555517888	missense variant	-	NC_000016.10:g.68829742C>G	-
CDH1	P12830	p.Arg796Trp	RCV000582952	missense variant	-	NC_000016.10:g.68829744C>T	ClinVar
CDH1	P12830	p.Arg796Trp	RCV000792585	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829744C>T	ClinVar
CDH1	P12830	p.Arg796Ter	RCV000639217	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829745_68829764del	ClinVar
CDH1	P12830	p.Arg796Gln	RCV000228473	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829745G>A	ClinVar
CDH1	P12830	p.Arg796Gln	rs587782549	missense variant	-	NC_000016.10:g.68829745G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg796Gln	RCV000587217	missense variant	-	NC_000016.10:g.68829745G>A	ClinVar
CDH1	P12830	p.Arg796Ter	RCV000013023	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829744dup	ClinVar
CDH1	P12830	p.Arg796Trp	rs777363517	missense variant	-	NC_000016.10:g.68829744C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Tyr797Cys	RCV000131408	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829748A>G	ClinVar
CDH1	P12830	p.Tyr797Cys	rs587782394	missense variant	-	NC_000016.10:g.68829748A>G	-
CDH1	P12830	p.Leu798Val	COSM1302179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68829750C>G	NCI-TCGA Cosmic
CDH1	P12830	p.Pro799Arg	RCV000167901	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829754C>G	ClinVar
CDH1	P12830	p.Pro799Arg	rs587781335	missense variant	-	NC_000016.10:g.68829754C>G	-
CDH1	P12830	p.Pro799Arg	RCV000129091	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829754C>G	ClinVar
CDH1	P12830	p.Pro799Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68829754C>T	NCI-TCGA
CDH1	P12830	p.Arg800His	RCV000212387	missense variant	-	NC_000016.10:g.68829757G>A	ClinVar
CDH1	P12830	p.Arg800Ter	RCV000592579	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829756del	ClinVar
CDH1	P12830	p.Arg800Cys	RCV000204619	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829756C>T	ClinVar
CDH1	P12830	p.Arg800Cys	RCV000130753	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829756C>T	ClinVar
CDH1	P12830	p.Arg800Pro	rs370345996	missense variant	-	NC_000016.10:g.68829757G>C	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg800Leu	RCV000639262	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829757G>T	ClinVar
CDH1	P12830	p.Arg800His	RCV000198268	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829757G>A	ClinVar
CDH1	P12830	p.Arg800Cys	RCV000765308	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829756C>T	ClinVar
CDH1	P12830	p.Arg800His	RCV000131445	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829757G>A	ClinVar
CDH1	P12830	p.Arg800Leu	rs370345996	missense variant	-	NC_000016.10:g.68829757G>T	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg800Cys	rs587782162	missense variant	-	NC_000016.10:g.68829756C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg800His	rs370345996	missense variant	-	NC_000016.10:g.68829757G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg800Ter	RCV000144591	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829756del	ClinVar
CDH1	P12830	p.Arg800Ter	RCV000657198	frameshift	-	NC_000016.10:g.68829756del	ClinVar
CDH1	P12830	p.Pro801Ala	RCV000796116	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829759C>G	ClinVar
CDH1	P12830	p.Pro801LeuPheSerTerUnkUnk	COSM5833158	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68829758C>-	NCI-TCGA Cosmic
CDH1	P12830	p.Pro801Ala	rs876660704	missense variant	-	NC_000016.10:g.68829759C>G	gnomAD
CDH1	P12830	p.Pro801Ala	RCV000217230	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829759C>G	ClinVar
CDH1	P12830	p.Asn803Asp	RCV000562840	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829765A>G	ClinVar
CDH1	P12830	p.Asn803Asp	rs780510260	missense variant	-	NC_000016.10:g.68829765A>G	ExAC,gnomAD
CDH1	P12830	p.Asp805Gly	RCV000564560	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829772A>G	ClinVar
CDH1	P12830	p.Asp805Asn	RCV000115854	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829771G>A	ClinVar
CDH1	P12830	p.Asp805Asn	RCV000120505	missense variant	-	NC_000016.10:g.68829771G>A	ClinVar
CDH1	P12830	p.Asp805Gly	RCV000705266	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829772A>G	ClinVar
CDH1	P12830	p.Asp805Asn	rs200894246	missense variant	-	NC_000016.10:g.68829771G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Asp805Gly	rs1481419710	missense variant	-	NC_000016.10:g.68829772A>G	gnomAD
CDH1	P12830	p.Glu806Lys	rs376922615	missense variant	-	NC_000016.10:g.68829774G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu806Lys	RCV000533790	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829774G>A	ClinVar
CDH1	P12830	p.Glu806Lys	RCV000217698	missense variant	-	NC_000016.10:g.68829774G>A	ClinVar
CDH1	P12830	p.Ile807Met	rs761852331	missense variant	-	NC_000016.10:g.68829779T>G	ExAC,gnomAD
CDH1	P12830	p.Asn809Ser	RCV000701265	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829784A>G	ClinVar
CDH1	P12830	p.Asn809Lys	rs772173832	missense variant	-	NC_000016.10:g.68829785T>A	ExAC,gnomAD
CDH1	P12830	p.Asn809Ser	rs1427872591	missense variant	-	NC_000016.10:g.68829784A>G	TOPMed,gnomAD
CDH1	P12830	p.Phe810Ter	RCV000204049	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829788del	ClinVar
CDH1	P12830	p.Phe810Leu	rs1178559383	missense variant	-	NC_000016.10:g.68829786T>C	gnomAD
CDH1	P12830	p.Phe810Ter	RCV000167195	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68829788del	ClinVar
CDH1	P12830	p.Phe810Leu	RCV000689679	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829786T>C	ClinVar
CDH1	P12830	p.Phe810Cys	rs1236811420	missense variant	-	NC_000016.10:g.68829787T>G	TOPMed
CDH1	P12830	p.Phe810Ter	RCV000484305	frameshift	-	NC_000016.10:g.68829788del	ClinVar
CDH1	P12830	p.Ile811Thr	RCV000558957	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829790T>C	ClinVar
CDH1	P12830	p.Ile811Val	RCV000548706	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829789A>G	ClinVar
CDH1	P12830	p.Ile811Thr	rs1555517918	missense variant	-	NC_000016.10:g.68829790T>C	-
CDH1	P12830	p.Ile811Val	rs1555517917	missense variant	-	NC_000016.10:g.68829789A>G	-
CDH1	P12830	p.Asp812Gly	RCV000232461	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68829793A>G	ClinVar
CDH1	P12830	p.Asp812Gly	rs878854684	missense variant	-	NC_000016.10:g.68829793A>G	-
CDH1	P12830	p.Glu813Asp	rs1413760846	missense variant	-	NC_000016.10:g.68829797A>T	gnomAD
CDH1	P12830	p.Lys816Asn	RCV000547768	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833298A>C	ClinVar
CDH1	P12830	p.Lys816Glu	RCV000562032	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833296A>G	ClinVar
CDH1	P12830	p.Lys816Ter	RCV000593954	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833296A>T	ClinVar
CDH1	P12830	p.Lys816Ter	RCV000639208	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833296A>T	ClinVar
CDH1	P12830	p.Lys816Asn	rs762704513	missense variant	-	NC_000016.10:g.68833298A>C	ExAC,gnomAD
CDH1	P12830	p.Lys816Ter	rs1555518211	stop gained	-	NC_000016.10:g.68833296A>T	-
CDH1	P12830	p.Ala817Val	RCV000471390	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833300C>T	ClinVar
CDH1	P12830	p.Ala817Val	RCV000383518	missense variant	-	NC_000016.10:g.68833300C>T	ClinVar
CDH1	P12830	p.Ala817Val	RCV000656825	missense variant	-	NC_000016.10:g.68833300C>T	ClinVar
CDH1	P12830	p.Ala817Val	rs587782024	missense variant	-	NC_000016.10:g.68833300C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ala817Val	RCV000130457	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833300C>T	ClinVar
CDH1	P12830	p.Ala818Thr	rs1223994260	missense variant	-	NC_000016.10:g.68833302G>A	gnomAD
CDH1	P12830	p.Asp819Asn	COSM4833222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68833305G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Thr820Ile	rs767159815	missense variant	-	NC_000016.10:g.68833309C>T	ExAC,gnomAD
CDH1	P12830	p.Thr820Ala	RCV000228053	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833308A>G	ClinVar
CDH1	P12830	p.Thr820Ile	RCV000485072	missense variant	-	NC_000016.10:g.68833309C>T	ClinVar
CDH1	P12830	p.Thr820Ile	RCV000569945	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833309C>T	ClinVar
CDH1	P12830	p.Thr820Ala	rs878854685	missense variant	-	NC_000016.10:g.68833308A>G	TOPMed
CDH1	P12830	p.Pro822Ala	RCV000472121	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833314C>G	ClinVar
CDH1	P12830	p.Pro822Ser	RCV000467419	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833314C>T	ClinVar
CDH1	P12830	p.Pro822Leu	RCV000639250	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833315C>T	ClinVar
CDH1	P12830	p.Pro822Ala	rs876660086	missense variant	-	NC_000016.10:g.68833314C>G	-
CDH1	P12830	p.Pro822Ser	rs876660086	missense variant	-	NC_000016.10:g.68833314C>T	-
CDH1	P12830	p.Pro822Leu	rs1555518215	missense variant	-	NC_000016.10:g.68833315C>T	-
CDH1	P12830	p.Pro822Ser	RCV000213124	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833314C>T	ClinVar
CDH1	P12830	p.Thr823Ala	RCV000574257	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833317A>G	ClinVar
CDH1	P12830	p.Thr823Ala	RCV000232027	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833317A>G	ClinVar
CDH1	P12830	p.Thr823Ala	rs878854686	missense variant	-	NC_000016.10:g.68833317A>G	-
CDH1	P12830	p.Ala824Val	rs1450920019	missense variant	-	NC_000016.10:g.68833321C>T	gnomAD
CDH1	P12830	p.Ala824GlyPheSerTerUnk	COSM5833159	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68833319_68833320insG	NCI-TCGA Cosmic
CDH1	P12830	p.Ala824Val	RCV000639238	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833321C>T	ClinVar
CDH1	P12830	p.Ala824Asp	RCV000527398	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833321C>A	ClinVar
CDH1	P12830	p.Ala824Asp	rs1450920019	missense variant	-	NC_000016.10:g.68833321C>A	gnomAD
CDH1	P12830	p.Pro825Leu	RCV000765309	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833324C>T	ClinVar
CDH1	P12830	p.Pro825Leu	RCV000129041	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833324C>T	ClinVar
CDH1	P12830	p.Pro825Leu	rs587781312	missense variant	-	NC_000016.10:g.68833324C>T	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Pro825Leu	RCV000200831	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833324C>T	ClinVar
CDH1	P12830	p.Pro825Leu	RCV000478861	missense variant	-	NC_000016.10:g.68833324C>T	ClinVar
CDH1	P12830	p.Pro826Ter	RCV000574087	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833324dup	ClinVar
CDH1	P12830	p.Pro826Ter	RCV000792226	frameshift	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833324dup	ClinVar
CDH1	P12830	p.Pro826LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68833326C>-	NCI-TCGA
CDH1	P12830	p.Tyr827Cys	RCV000548051	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833330A>G	ClinVar
CDH1	P12830	p.Tyr827Cys	rs1555518224	missense variant	-	NC_000016.10:g.68833330A>G	-
CDH1	P12830	p.Tyr827Ter	rs767045364	stop gained	-	NC_000016.10:g.68833331T>G	ExAC,gnomAD
CDH1	P12830	p.Ser829Ala	RCV000526467	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833335T>G	ClinVar
CDH1	P12830	p.Ser829Tyr	RCV000205814	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833336C>A	ClinVar
CDH1	P12830	p.Ser829Tyr	rs864622310	missense variant	-	NC_000016.10:g.68833336C>A	-
CDH1	P12830	p.Ser829Ala	rs1265463733	missense variant	-	NC_000016.10:g.68833335T>G	TOPMed
CDH1	P12830	p.Ser829Ter	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68833330_68833331insTGAT	NCI-TCGA
CDH1	P12830	p.Leu831Ter	RCV000492088	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833340dup	ClinVar
CDH1	P12830	p.Val832Met	rs35572355	missense variant	-	NC_000016.10:g.68833344G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val832Met	rs35572355	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833344G>A	UniProt,dbSNP
CDH1	P12830	p.Val832Met	VAR_023358	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833344G>A	UniProt
CDH1	P12830	p.Val832Leu	rs35572355	missense variant	-	NC_000016.10:g.68833344G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Val832Met	RCV000587650	missense variant	-	NC_000016.10:g.68833344G>A	ClinVar
CDH1	P12830	p.Phe833Leu	RCV000196588	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833347T>C	ClinVar
CDH1	P12830	p.Phe833Leu	rs863224728	missense variant	-	NC_000016.10:g.68833347T>C	-
CDH1	P12830	p.Asp834Asn	RCV000686764	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833350G>A	ClinVar
CDH1	P12830	p.Asp834Ter	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68833346_68833347insT	NCI-TCGA
CDH1	P12830	p.Tyr835Ter	COSM3818356	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68833355T>A	NCI-TCGA Cosmic
CDH1	P12830	p.Glu836Ter	RCV000565359	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833355_68833356dup	ClinVar
CDH1	P12830	p.Glu836Ter	RCV000736285	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833356G>T	ClinVar
CDH1	P12830	p.Ser838Gly	RCV000013020	missense variant	Neoplasm of ovary	NC_000016.10:g.68833362A>G	ClinVar
CDH1	P12830	p.Ser838Gly	rs121964872	missense variant	-	NC_000016.10:g.68833362A>G	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ser838Gly	rs121964872	missense variant	-	NC_000016.10:g.68833362A>G	UniProt,dbSNP
CDH1	P12830	p.Ser838Gly	VAR_001322	missense variant	-	NC_000016.10:g.68833362A>G	UniProt
CDH1	P12830	p.Gly839Ser	RCV000115858	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833365G>A	ClinVar
CDH1	P12830	p.Gly839Ser	RCV000231558	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833365G>A	ClinVar
CDH1	P12830	p.Gly839Ser	RCV000212391	missense variant	-	NC_000016.10:g.68833365G>A	ClinVar
CDH1	P12830	p.Gly839Ser	rs587780121	missense variant	-	NC_000016.10:g.68833365G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ser840Pro	RCV000541339	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833368T>C	ClinVar
CDH1	P12830	p.Ser840Pro	rs1555518243	missense variant	-	NC_000016.10:g.68833368T>C	-
CDH1	P12830	p.Ser840Phe	RCV000129009	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833369C>T	ClinVar
CDH1	P12830	p.Ser840Pro	RCV000580210	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833368T>C	ClinVar
CDH1	P12830	p.Ser840Phe	rs587781300	missense variant	-	NC_000016.10:g.68833369C>T	-
CDH1	P12830	p.Glu841Lys	RCV000467375	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833371G>A	ClinVar
CDH1	P12830	p.Glu841Lys	RCV000217393	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833371G>A	ClinVar
CDH1	P12830	p.Glu841Lys	RCV000481767	missense variant	-	NC_000016.10:g.68833371G>A	ClinVar
CDH1	P12830	p.Glu841Lys	rs377489352	missense variant	-	NC_000016.10:g.68833371G>A	gnomAD
CDH1	P12830	p.Ala842Pro	RCV000167225	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833374G>C	ClinVar
CDH1	P12830	p.Ala842Pro	rs786203774	missense variant	-	NC_000016.10:g.68833374G>C	-
CDH1	P12830	p.Ala843Thr	RCV000572215	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833377G>A	ClinVar
CDH1	P12830	p.Ala843Thr	RCV000701451	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833377G>A	ClinVar
CDH1	P12830	p.Ala843Gly	rs774148258	missense variant	-	NC_000016.10:g.68833378C>G	ExAC,gnomAD
CDH1	P12830	p.Ala843Thr	rs768350776	missense variant	-	NC_000016.10:g.68833377G>A	ExAC,gnomAD
CDH1	P12830	p.Ser844Ile	RCV000568605	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833381G>T	ClinVar
CDH1	P12830	p.Ser844Ile	rs1247754103	missense variant	-	NC_000016.10:g.68833381G>T	gnomAD
CDH1	P12830	p.Ser844Cys	RCV000774780	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833380A>T	ClinVar
CDH1	P12830	p.Ser844Thr	RCV000773015	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833381G>C	ClinVar
CDH1	P12830	p.Ser844Ile	RCV000781208	missense variant	-	NC_000016.10:g.68833381G>T	ClinVar
CDH1	P12830	p.Ser844Cys	rs761400928	missense variant	-	NC_000016.10:g.68833380A>T	ExAC,gnomAD
CDH1	P12830	p.Ser847Ala	RCV000556174	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833389T>G	ClinVar
CDH1	P12830	p.Ser847Ala	RCV000563237	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833389T>G	ClinVar
CDH1	P12830	p.Ser847Cys	RCV000639221	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833390C>G	ClinVar
CDH1	P12830	p.Ser847Ala	rs1555518248	missense variant	-	NC_000016.10:g.68833389T>G	-
CDH1	P12830	p.Ser847Cys	rs1555518249	missense variant	-	NC_000016.10:g.68833390C>G	-
CDH1	P12830	p.Leu848Pro	rs767315263	missense variant	-	NC_000016.10:g.68833393T>C	ExAC,gnomAD
CDH1	P12830	p.Asn849Asp	RCV000222119	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833395A>G	ClinVar
CDH1	P12830	p.Asn849Asp	RCV000685079	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833395A>G	ClinVar
CDH1	P12830	p.Asn849Asp	rs876660881	missense variant	-	NC_000016.10:g.68833395A>G	-
CDH1	P12830	p.Ser850Ter	RCV000214510	frameshift	-	NC_000016.10:g.68833397_68833398insA	ClinVar
CDH1	P12830	p.Ser850Cys	RCV000530113	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833399C>G	ClinVar
CDH1	P12830	p.Ser850Ter	RCV000130681	frameshift	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833399_68833400del	ClinVar
CDH1	P12830	p.Ser850Cys	rs1337211551	missense variant	-	NC_000016.10:g.68833399C>G	TOPMed
CDH1	P12830	p.Ser850Cys	RCV000564119	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833399C>G	ClinVar
CDH1	P12830	p.Ser850Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68833399C>T	NCI-TCGA
CDH1	P12830	p.Glu852Ala	RCV000563765	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833405A>C	ClinVar
CDH1	P12830	p.Glu852Asp	rs760315494	missense variant	-	NC_000016.10:g.68833406G>T	ExAC,gnomAD
CDH1	P12830	p.Glu852Ala	rs1485384861	missense variant	-	NC_000016.10:g.68833405A>C	TOPMed,gnomAD
CDH1	P12830	p.Ser853Leu	RCV000466545	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833408C>T	ClinVar
CDH1	P12830	p.Ser853Leu	RCV000165032	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833408C>T	ClinVar
CDH1	P12830	p.Ser853Pro	RCV000639259	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833407T>C	ClinVar
CDH1	P12830	p.Ser853Pro	rs765978401	missense variant	-	NC_000016.10:g.68833407T>C	ExAC,gnomAD
CDH1	P12830	p.Ser853Leu	rs569928380	missense variant	-	NC_000016.10:g.68833408C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ser853Thr	rs765978401	missense variant	-	NC_000016.10:g.68833407T>A	ExAC,gnomAD
CDH1	P12830	p.Ser853Leu	RCV000759731	missense variant	-	NC_000016.10:g.68833408C>T	ClinVar
CDH1	P12830	p.Asp854Asn	RCV000580229	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833410G>A	ClinVar
CDH1	P12830	p.Asp854Glu	rs1172127740	missense variant	-	NC_000016.10:g.68833412C>A	TOPMed
CDH1	P12830	p.Asp854Asn	rs1555518257	missense variant	-	NC_000016.10:g.68833410G>A	-
CDH1	P12830	p.Asp854LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68833408_68833411CAGA>-	NCI-TCGA
CDH1	P12830	p.Asp856Ala	RCV000704078	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833417A>C	ClinVar
CDH1	P12830	p.Asp858His	RCV000130458	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833422G>C	ClinVar
CDH1	P12830	p.Asp858His	RCV000200282	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833422G>C	ClinVar
CDH1	P12830	p.Asp858His	RCV000483138	missense variant	-	NC_000016.10:g.68833422G>C	ClinVar
CDH1	P12830	p.Asp858Glu	RCV000561082	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833424C>A	ClinVar
CDH1	P12830	p.Asp858Glu	RCV000462875	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833424C>A	ClinVar
CDH1	P12830	p.Asp858Glu	rs1060501245	missense variant	-	NC_000016.10:g.68833424C>A	-
CDH1	P12830	p.Asp858His	rs587782025	missense variant	-	NC_000016.10:g.68833422G>C	ExAC,gnomAD
CDH1	P12830	p.Asp860Asn	RCV000567113	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833428G>A	ClinVar
CDH1	P12830	p.Asp860Asn	RCV000700036	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833428G>A	ClinVar
CDH1	P12830	p.Asp860His	RCV000700425	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833428G>C	ClinVar
CDH1	P12830	p.Asp860Tyr	RCV000554143	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833428G>T	ClinVar
CDH1	P12830	p.Asp860Tyr	rs1412506259	missense variant	-	NC_000016.10:g.68833428G>T	TOPMed
CDH1	P12830	p.Asp860Asn	rs1412506259	missense variant	-	NC_000016.10:g.68833428G>A	TOPMed
CDH1	P12830	p.Tyr861His	rs1185746867	missense variant	-	NC_000016.10:g.68833431T>C	gnomAD
CDH1	P12830	p.Asn863Lys	RCV000639267	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833439C>A	ClinVar
CDH1	P12830	p.Asn863Lys	RCV000215906	missense variant	-	NC_000016.10:g.68833439C>A	ClinVar
CDH1	P12830	p.Asn863Lys	rs115817750	missense variant	-	NC_000016.10:g.68833439C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu864Gln	RCV000575500	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833440G>C	ClinVar
CDH1	P12830	p.Glu864Gln	RCV000205018	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833440G>C	ClinVar
CDH1	P12830	p.Glu864Lys	RCV000216670	missense variant	-	NC_000016.10:g.68833440G>A	ClinVar
CDH1	P12830	p.Glu864Lys	RCV000563816	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833440G>A	ClinVar
CDH1	P12830	p.Glu864Lys	RCV000471203	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833440G>A	ClinVar
CDH1	P12830	p.Glu864Gln	rs142927667	missense variant	-	NC_000016.10:g.68833440G>C	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu864Lys	rs142927667	missense variant	-	NC_000016.10:g.68833440G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Trp865Ter	RCV000597446	nonsense	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833444G>A	ClinVar
CDH1	P12830	p.Trp865Ter	rs1555518270	stop gained	-	NC_000016.10:g.68833444G>A	-
CDH1	P12830	p.Trp865Cys	rs778019174	missense variant	-	NC_000016.10:g.68833445G>C	ExAC,gnomAD
CDH1	P12830	p.Trp865Cys	RCV000197400	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833445G>C	ClinVar
CDH1	P12830	p.Trp865Cys	RCV000765310	missense variant	Familial cancer of breast	NC_000016.10:g.68833445G>C	ClinVar
CDH1	P12830	p.Trp865Cys	RCV000572174	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833445G>C	ClinVar
CDH1	P12830	p.Trp865Gly	rs1555518267	missense variant	-	NC_000016.10:g.68833443T>G	-
CDH1	P12830	p.Trp865Ter	RCV000662745	nonsense	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833444G>A	ClinVar
CDH1	P12830	p.Trp865Gly	RCV000639215	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833443T>G	ClinVar
CDH1	P12830	p.Gly866Ser	RCV000472243	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833446G>A	ClinVar
CDH1	P12830	p.Gly866Asp	rs1410318220	missense variant	-	NC_000016.10:g.68833447G>A	gnomAD
CDH1	P12830	p.Gly866Ser	rs1060501230	missense variant	-	NC_000016.10:g.68833446G>A	-
CDH1	P12830	p.Asn867Ser	RCV000132006	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833450A>G	ClinVar
CDH1	P12830	p.Asn867Ser	RCV000482832	missense variant	-	NC_000016.10:g.68833450A>G	ClinVar
CDH1	P12830	p.Asn867Ser	RCV000766437	missense variant	-	NC_000016.10:g.68833450A>G	ClinVar
CDH1	P12830	p.Asn867Ser	rs587782623	missense variant	-	NC_000016.10:g.68833450A>G	ExAC,gnomAD
CDH1	P12830	p.Arg868Cys	RCV000217355	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833452C>T	ClinVar
CDH1	P12830	p.Arg868Cys	RCV000478079	missense variant	-	NC_000016.10:g.68833452C>T	ClinVar
CDH1	P12830	p.Arg868His	RCV000485189	missense variant	-	NC_000016.10:g.68833453G>A	ClinVar
CDH1	P12830	p.Arg868Ser	RCV000572005	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833452C>A	ClinVar
CDH1	P12830	p.Arg868His	RCV000233357	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833453G>A	ClinVar
CDH1	P12830	p.Arg868His	RCV000218816	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833453G>A	ClinVar
CDH1	P12830	p.Arg868His	rs369126891	missense variant	-	NC_000016.10:g.68833453G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Arg868Ser	rs864622630	missense variant	-	NC_000016.10:g.68833452C>A	TOPMed,gnomAD
CDH1	P12830	p.Arg868Cys	rs864622630	missense variant	-	NC_000016.10:g.68833452C>T	TOPMed,gnomAD
CDH1	P12830	p.Arg868Cys	RCV000205707	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833452C>T	ClinVar
CDH1	P12830	p.Lys870Thr	rs781274240	missense variant	-	NC_000016.10:g.68833459A>C	ExAC,gnomAD
CDH1	P12830	p.Lys870Arg	rs781274240	missense variant	-	NC_000016.10:g.68833459A>G	ExAC,gnomAD
CDH1	P12830	p.Lys870Thr	RCV000570434	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833459A>C	ClinVar
CDH1	P12830	p.Leu872Met	RCV000816835	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833464C>A	ClinVar
CDH1	P12830	p.Leu872Met	RCV000562588	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833464C>A	ClinVar
CDH1	P12830	p.Leu872Met	rs749203461	missense variant	-	NC_000016.10:g.68833464C>A	ExAC,gnomAD
CDH1	P12830	p.Ala873Thr	COSM4644008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68833467G>A	NCI-TCGA Cosmic
CDH1	P12830	p.Ala873Gly	rs1457628508	missense variant	-	NC_000016.10:g.68833468C>G	TOPMed
CDH1	P12830	p.Asp874His	RCV000542909	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833470G>C	ClinVar
CDH1	P12830	p.Asp874His	rs1555518283	missense variant	-	NC_000016.10:g.68833470G>C	-
CDH1	P12830	p.Met875Ile	RCV000572512	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833475G>A	ClinVar
CDH1	P12830	p.Met875Val	RCV000581138	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833473A>G	ClinVar
CDH1	P12830	p.Met875Val	rs1555518287	missense variant	-	NC_000016.10:g.68833473A>G	-
CDH1	P12830	p.Met875Ile	rs1555518291	missense variant	-	NC_000016.10:g.68833475G>A	-
CDH1	P12830	p.Met875Arg	rs900118000	missense variant	-	NC_000016.10:g.68833474T>G	gnomAD
CDH1	P12830	p.Gly877Arg	RCV000480709	missense variant	-	NC_000016.10:g.68833479G>A	ClinVar
CDH1	P12830	p.Gly877Arg	RCV000567842	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833479G>A	ClinVar
CDH1	P12830	p.Gly877Arg	RCV000639205	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833479G>A	ClinVar
CDH1	P12830	p.Gly877Arg	rs555842031	missense variant	-	NC_000016.10:g.68833479G>A	1000Genomes,ExAC,gnomAD
CDH1	P12830	p.Gly879Val	RCV000706626	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833486G>T	ClinVar
CDH1	P12830	p.Gly879Ser	rs200911775	missense variant	-	NC_000016.10:g.68833485G>A	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Gly879Ser	RCV000212393	missense variant	-	NC_000016.10:g.68833485G>A	ClinVar
CDH1	P12830	p.Gly879Arg	rs200911775	missense variant	-	NC_000016.10:g.68833485G>C	ESP,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu880Gly	RCV000639280	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833489A>G	ClinVar
CDH1	P12830	p.Glu880Lys	rs34507583	missense variant	-	NC_000016.10:g.68833488G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu880Lys	rs34507583	missense variant	-	NC_000016.10:g.68833488G>A	UniProt,dbSNP
CDH1	P12830	p.Glu880Lys	VAR_023359	missense variant	-	NC_000016.10:g.68833488G>A	UniProt
CDH1	P12830	p.Glu880Lys	RCV000230051	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833488G>A	ClinVar
CDH1	P12830	p.Glu880Gln	RCV000484409	missense variant	-	NC_000016.10:g.68833488G>C	ClinVar
CDH1	P12830	p.Glu880Gln	rs34507583	missense variant	-	NC_000016.10:g.68833488G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH1	P12830	p.Glu880Gly	rs1555518306	missense variant	-	NC_000016.10:g.68833489A>G	-
CDH1	P12830	p.Asp881Asn	RCV000796701	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833491G>A	ClinVar
CDH1	P12830	p.Asp881Asn	RCV000572516	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833491G>A	ClinVar
CDH1	P12830	p.Asp881Asn	rs1198941336	missense variant	-	NC_000016.10:g.68833491G>A	gnomAD
CDH1	P12830	p.Asp882Asn	RCV000115860	missense variant	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833494G>A	ClinVar
CDH1	P12830	p.Asp882Asn	RCV000232913	missense variant	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833494G>A	ClinVar
CDH1	P12830	p.Asp882Asn	RCV000212394	missense variant	-	NC_000016.10:g.68833494G>A	ClinVar
CDH1	P12830	p.Asp882Asn	rs200104963	missense variant	-	NC_000016.10:g.68833494G>A	ExAC,TOPMed,gnomAD
CDH1	P12830	p.Ter883Gln	RCV000475260	stop lost	Hereditary diffuse gastric cancer (HDGC)	NC_000016.10:g.68833497T>C	ClinVar
CDH1	P12830	p.Ter883Gln	RCV000563805	stop lost	Hereditary cancer-predisposing syndrome	NC_000016.10:g.68833497T>C	ClinVar
CDH1	P12830	p.Ter883Gln	rs932491569	stop lost	-	NC_000016.10:g.68833497T>C	TOPMed
CDH1	P12830	p.Ter883Leu	rs1057523505	stop lost	-	NC_000016.10:g.68833498A>T	gnomAD
CDH1	P12830	p.Ter883Trp	rs1057523505	stop lost	-	NC_000016.10:g.68833498A>G	gnomAD
CDH1	P12830	p.Ter883Leu	RCV000425377	stop lost	-	NC_000016.10:g.68833498A>T	ClinVar
RARG	P13631	p.Thr3Ile	rs1277802635	missense variant	-	NC_000012.12:g.53227538G>A	gnomAD
RARG	P13631	p.Glu6Lys	rs754859955	missense variant	-	NC_000012.12:g.53227530C>T	ExAC,gnomAD
RARG	P13631	p.Arg7Gln	rs1314152214	missense variant	-	NC_000012.12:g.53227526C>T	gnomAD
RARG	P13631	p.Arg7Ter	rs749068937	stop gained	-	NC_000012.12:g.53227527G>A	ExAC,TOPMed,gnomAD
RARG	P13631	p.Ala10Val	rs369873803	missense variant	-	NC_000012.12:g.53227517G>A	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Ala10Glu	rs369873803	missense variant	-	NC_000012.12:g.53227517G>T	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Gly12Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53227512C>A	NCI-TCGA
RARG	P13631	p.Gly12Asp	rs200641282	missense variant	-	NC_000012.12:g.53227511C>T	1000Genomes,ExAC,TOPMed,gnomAD
RARG	P13631	p.Ala13Gly	rs764558084	missense variant	-	NC_000012.12:g.53227508G>C	ExAC
RARG	P13631	p.Ala13Asp	rs764558084	missense variant	-	NC_000012.12:g.53227508G>T	ExAC
RARG	P13631	p.Gly15Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53227503C>A	NCI-TCGA
RARG	P13631	p.Gly15Val	rs763361169	missense variant	-	NC_000012.12:g.53227502C>A	ExAC
RARG	P13631	p.Pro16LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53227501C>-	NCI-TCGA
RARG	P13631	p.Pro16Ala	rs775786386	missense variant	-	NC_000012.12:g.53227500G>C	ExAC,gnomAD
RARG	P13631	p.Gly22Trp	COSM291614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53227482C>A	NCI-TCGA Cosmic
RARG	P13631	p.Gly22Ala	rs760179232	missense variant	-	NC_000012.12:g.53227481C>G	ExAC,TOPMed,gnomAD
RARG	P13631	p.Ala23Thr	rs986000449	missense variant	-	NC_000012.12:g.53227479C>T	TOPMed,gnomAD
RARG	P13631	p.Gly24Asp	rs772794468	missense variant	-	NC_000012.12:g.53227475C>T	ExAC,gnomAD
RARG	P13631	p.Ala28Gly	rs1480190572	missense variant	-	NC_000012.12:g.53227463G>C	gnomAD
RARG	P13631	p.Ala28Thr	rs147050100	missense variant	-	NC_000012.12:g.53227464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Phe29Ser	rs1255854166	missense variant	-	NC_000012.12:g.53227460A>G	gnomAD
RARG	P13631	p.Pro30Ser	rs1217057963	missense variant	-	NC_000012.12:g.53227458G>A	gnomAD
RARG	P13631	p.Gly31Arg	rs1457086260	missense variant	-	NC_000012.12:g.53227455C>G	TOPMed
RARG	P13631	p.Ala32GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53227451_53227452insC	NCI-TCGA
RARG	P13631	p.Leu33Val	rs1278960828	missense variant	-	NC_000012.12:g.53227449G>C	gnomAD
RARG	P13631	p.Gly35Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53227443C>T	NCI-TCGA
RARG	P13631	p.Ser36LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53227441C>-	NCI-TCGA
RARG	P13631	p.Pro37Leu	rs577625236	missense variant	-	NC_000012.12:g.53227436G>A	1000Genomes,ExAC,TOPMed,gnomAD
RARG	P13631	p.Pro38Ser	rs756369521	missense variant	-	NC_000012.12:g.53227434G>A	ExAC,gnomAD
RARG	P13631	p.Glu40Lys	rs141642280	missense variant	-	NC_000012.12:g.53227428C>T	ESP,ExAC,gnomAD
RARG	P13631	p.Glu40Gln	rs141642280	missense variant	-	NC_000012.12:g.53227428C>G	ESP,ExAC,gnomAD
RARG	P13631	p.Glu40Asp	rs147914026	missense variant	-	NC_000012.12:g.53227426C>G	ESP,TOPMed
RARG	P13631	p.Met41Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53227423C>G	NCI-TCGA
RARG	P13631	p.Met41Ile	rs1162191476	missense variant	-	NC_000012.12:g.53227423C>T	gnomAD
RARG	P13631	p.Met41Thr	rs371795184	missense variant	-	NC_000012.12:g.53227424A>G	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Ser43Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53227418C>A	NCI-TCGA
RARG	P13631	p.Ser43Gly	rs1369624218	missense variant	-	NC_000012.12:g.53227419T>C	gnomAD
RARG	P13631	p.Pro44Leu	COSM3462624	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53227415G>A	NCI-TCGA Cosmic
RARG	P13631	p.Pro44Arg	rs778278729	missense variant	-	NC_000012.12:g.53227415G>C	ExAC,gnomAD
RARG	P13631	p.Pro44Ser	rs1188181638	missense variant	-	NC_000012.12:g.53227416G>A	gnomAD
RARG	P13631	p.Ser45Asn	rs202210396	missense variant	-	NC_000012.12:g.53227412C>T	1000Genomes,ExAC,gnomAD
RARG	P13631	p.Arg47Gln	rs1200267590	missense variant	-	NC_000012.12:g.53227406C>T	gnomAD
RARG	P13631	p.Gln51Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53227394T>A	NCI-TCGA
RARG	P13631	p.Pro52Ser	rs200289157	missense variant	-	NC_000012.12:g.53227392G>A	1000Genomes,ExAC,TOPMed,gnomAD
RARG	P13631	p.Asp53Glu	rs1285968095	missense variant	-	NC_000012.12:g.53227387G>C	gnomAD
RARG	P13631	p.Asp53Glu	rs1285968095	missense variant	-	NC_000012.12:g.53227387G>T	gnomAD
RARG	P13631	p.Lys56Asn	rs1426174979	missense variant	-	NC_000012.12:g.53227378C>A	TOPMed,gnomAD
RARG	P13631	p.Ser60Cys	rs767255761	missense variant	-	NC_000012.12:g.53227367G>C	ExAC,gnomAD
RARG	P13631	p.Ser60Pro	rs1376775025	missense variant	-	NC_000012.12:g.53227368A>G	gnomAD
RARG	P13631	p.Ser62Leu	rs776428099	missense variant	-	NC_000012.12:g.53215794G>A	ExAC,gnomAD
RARG	P13631	p.Val63Ala	rs766220605	missense variant	-	NC_000012.12:g.53215791A>G	ExAC,gnomAD
RARG	P13631	p.Thr65Ile	rs368106601	missense variant	-	NC_000012.12:g.53215785G>A	ESP,ExAC,gnomAD
RARG	P13631	p.Ser67HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53215779_53215780CT>-	NCI-TCGA
RARG	P13631	p.Thr68Ile	rs1199743374	missense variant	-	NC_000012.12:g.53215776G>A	gnomAD
RARG	P13631	p.Pro75Arg	rs772316902	missense variant	-	NC_000012.12:g.53215755G>C	ExAC,gnomAD
RARG	P13631	p.Ser77Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53215749G>A	NCI-TCGA
RARG	P13631	p.Ser79Leu	rs868518896	missense variant	-	NC_000012.12:g.53215743G>A	gnomAD
RARG	P13631	p.Pro81Leu	rs1277703533	missense variant	-	NC_000012.12:g.53215737G>A	gnomAD
RARG	P13631	p.Pro82Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53215735G>C	NCI-TCGA
RARG	P13631	p.Pro82Leu	rs769476878	missense variant	-	NC_000012.12:g.53215734G>A	TOPMed,gnomAD
RARG	P13631	p.Pro82Leu	RCV000207406	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000012.12:g.53215734G>A	ClinVar
RARG	P13631	p.Pro83Leu	rs769056213	missense variant	-	NC_000012.12:g.53215731G>A	ExAC,gnomAD
RARG	P13631	p.Arg85Trp	rs1051888927	missense variant	-	NC_000012.12:g.53215726G>A	TOPMed,gnomAD
RARG	P13631	p.Tyr87Ter	COSM431377	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.53215718G>C	NCI-TCGA Cosmic
RARG	P13631	p.Tyr87Cys	rs1211786111	missense variant	-	NC_000012.12:g.53215719T>C	gnomAD
RARG	P13631	p.Val92Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53215705C>T	NCI-TCGA
RARG	P13631	p.Cys93Tyr	COSM1586586	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53215701C>T	NCI-TCGA Cosmic
RARG	P13631	p.Asn94Ser	rs1373097113	missense variant	-	NC_000012.12:g.53215698T>C	TOPMed,gnomAD
RARG	P13631	p.Asn94Asp	rs756583376	missense variant	-	NC_000012.12:g.53215699T>C	ExAC,gnomAD
RARG	P13631	p.Gly112Asp	rs1383968565	missense variant	-	NC_000012.12:g.53215433C>T	TOPMed
RARG	P13631	p.Arg115His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53215424C>T	NCI-TCGA
RARG	P13631	p.Arg115Cys	COSM4865671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53215425G>A	NCI-TCGA Cosmic
RARG	P13631	p.Arg116Gln	COSM3749217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53215421C>T	NCI-TCGA Cosmic
RARG	P13631	p.Arg116Ter	rs1382493639	stop gained	-	NC_000012.12:g.53215422G>A	TOPMed
RARG	P13631	p.Met122Ile	rs1368283166	missense variant	-	NC_000012.12:g.53215402C>G	TOPMed
RARG	P13631	p.Met122Val	rs1353471159	missense variant	-	NC_000012.12:g.53215404T>C	gnomAD
RARG	P13631	p.Val123Leu	rs771641542	missense variant	-	NC_000012.12:g.53215401C>A	ExAC,gnomAD
RARG	P13631	p.Thr125Met	rs747897352	missense variant	-	NC_000012.12:g.53215394G>A	ExAC,gnomAD
RARG	P13631	p.Arg128Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53215386G>T	NCI-TCGA
RARG	P13631	p.Arg128His	rs141058411	missense variant	-	NC_000012.12:g.53215385C>T	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Arg128Cys	rs754556103	missense variant	-	NC_000012.12:g.53215386G>A	ExAC,TOPMed,gnomAD
RARG	P13631	p.Asp129Asn	rs755978003	missense variant	-	NC_000012.12:g.53215383C>T	ExAC,gnomAD
RARG	P13631	p.Lys130Arg	rs1380703070	missense variant	-	NC_000012.12:g.53215379T>C	gnomAD
RARG	P13631	p.Asn131Asp	COSM4929950	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53215377T>C	NCI-TCGA Cosmic
RARG	P13631	p.Ile133Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53215371T>C	NCI-TCGA
RARG	P13631	p.Lys136Asn	rs767403543	missense variant	-	NC_000012.12:g.53215360C>A	ExAC,TOPMed,gnomAD
RARG	P13631	p.Arg141Gly	rs761508890	missense variant	-	NC_000012.12:g.53215347G>C	ExAC,TOPMed,gnomAD
RARG	P13631	p.Arg141His	rs751844553	missense variant	-	NC_000012.12:g.53215346C>T	ExAC,TOPMed,gnomAD
RARG	P13631	p.Arg141Cys	rs761508890	missense variant	-	NC_000012.12:g.53215347G>A	ExAC,TOPMed,gnomAD
RARG	P13631	p.Gln143Ter	COSM1299578	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.53215341G>A	NCI-TCGA Cosmic
RARG	P13631	p.Tyr144His	rs763146108	missense variant	-	NC_000012.12:g.53215338A>G	ExAC,gnomAD
RARG	P13631	p.Arg146Gln	rs1254896676	missense variant	-	NC_000012.12:g.53215331C>T	TOPMed
RARG	P13631	p.Glu152Lys	rs770432568	missense variant	-	NC_000012.12:g.53215314C>T	ExAC,TOPMed,gnomAD
RARG	P13631	p.Ala159Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214606G>A	NCI-TCGA
RARG	P13631	p.Ala159Thr	COSM4549530	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53215293C>T	NCI-TCGA Cosmic
RARG	P13631	p.Arg161Ter	COSM4867964	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.53214601G>A	NCI-TCGA Cosmic
RARG	P13631	p.Arg161Gln	rs773410727	missense variant	-	NC_000012.12:g.53214600C>T	ExAC,gnomAD
RARG	P13631	p.Asn162Ser	rs1331919553	missense variant	-	NC_000012.12:g.53214597T>C	gnomAD
RARG	P13631	p.Arg164Gln	rs199861731	missense variant	-	NC_000012.12:g.53214591C>T	1000Genomes,ExAC,gnomAD
RARG	P13631	p.Arg164Leu	rs199861731	missense variant	-	NC_000012.12:g.53214591C>A	1000Genomes,ExAC,gnomAD
RARG	P13631	p.Arg164Trp	rs140755478	missense variant	-	NC_000012.12:g.53214592G>A	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Asn165Lys	rs745345035	missense variant	-	NC_000012.12:g.53214587G>C	ExAC,TOPMed,gnomAD
RARG	P13631	p.Asn165Lys	rs745345035	missense variant	-	NC_000012.12:g.53214587G>T	ExAC,TOPMed,gnomAD
RARG	P13631	p.Val171Leu	rs746821114	missense variant	-	NC_000012.12:g.53214571C>G	ExAC,TOPMed,gnomAD
RARG	P13631	p.Val171Met	rs746821114	missense variant	-	NC_000012.12:g.53214571C>T	ExAC,TOPMed,gnomAD
RARG	P13631	p.Lys172Met	rs576999686	missense variant	-	NC_000012.12:g.53214567T>A	1000Genomes,ExAC,gnomAD
RARG	P13631	p.Lys172Asn	rs200962839	missense variant	-	NC_000012.12:g.53214566C>A	1000Genomes
RARG	P13631	p.Glu173Lys	rs758257136	missense variant	-	NC_000012.12:g.53214565C>T	ExAC,gnomAD
RARG	P13631	p.Glu174Gln	rs753039007	missense variant	-	NC_000012.12:g.53214562C>G	ExAC,TOPMed
RARG	P13631	p.Glu174Lys	COSM3792752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53214562C>T	NCI-TCGA Cosmic
RARG	P13631	p.Gly175Glu	rs755157558	missense variant	-	NC_000012.12:g.53214558C>T	ExAC,TOPMed,gnomAD
RARG	P13631	p.Gly175Ala	rs755157558	missense variant	-	NC_000012.12:g.53214558C>G	ExAC,TOPMed,gnomAD
RARG	P13631	p.Pro177SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53214542_53214554ATAGCTGTCAGGT>-	NCI-TCGA
RARG	P13631	p.Pro177Leu	rs372490193	missense variant	-	NC_000012.12:g.53214552G>A	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Pro177Thr	rs1012665089	missense variant	-	NC_000012.12:g.53214553G>T	gnomAD
RARG	P13631	p.Pro177Ser	rs1012665089	missense variant	-	NC_000012.12:g.53214553G>A	gnomAD
RARG	P13631	p.Ser179Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214546C>T	NCI-TCGA
RARG	P13631	p.Tyr180Cys	rs1263365408	missense variant	-	NC_000012.12:g.53214543T>C	gnomAD
RARG	P13631	p.Tyr180His	rs1462419082	missense variant	-	NC_000012.12:g.53214544A>G	gnomAD
RARG	P13631	p.Ser183GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53214536_53214537insA	NCI-TCGA
RARG	P13631	p.Pro184Thr	rs1305270494	missense variant	-	NC_000012.12:g.53214532G>T	gnomAD
RARG	P13631	p.Gln185Lys	rs766941668	missense variant	-	NC_000012.12:g.53214529G>T	ExAC,gnomAD
RARG	P13631	p.Gln185Arg	rs761028583	missense variant	-	NC_000012.12:g.53214528T>C	ExAC,gnomAD
RARG	P13631	p.Glu188Asp	rs767936326	missense variant	-	NC_000012.12:g.53214518C>A	ExAC,gnomAD
RARG	P13631	p.Val193Ile	rs775168526	missense variant	-	NC_000012.12:g.53214505C>T	ExAC,gnomAD
RARG	P13631	p.Ser194Arg	rs1337655747	missense variant	-	NC_000012.12:g.53214502T>G	gnomAD
RARG	P13631	p.Lys195Glu	rs1203711077	missense variant	-	NC_000012.12:g.53214499T>C	TOPMed
RARG	P13631	p.Ala196Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214496C>A	NCI-TCGA
RARG	P13631	p.Gln198Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.53214490G>A	NCI-TCGA
RARG	P13631	p.Glu199Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214487C>T	NCI-TCGA
RARG	P13631	p.Pro202Leu	rs1190599963	missense variant	-	NC_000012.12:g.53214477G>A	TOPMed
RARG	P13631	p.Ser203Leu	COSM1263818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53214474G>A	NCI-TCGA Cosmic
RARG	P13631	p.Leu207Pro	COSM4869838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53214462A>G	NCI-TCGA Cosmic
RARG	P13631	p.Tyr210Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214453T>C	NCI-TCGA
RARG	P13631	p.Thr212Met	rs897676400	missense variant	-	NC_000012.12:g.53214447G>A	gnomAD
RARG	P13631	p.Asn213Lys	rs760204680	missense variant	-	NC_000012.12:g.53214233G>C	ExAC,TOPMed,gnomAD
RARG	P13631	p.Ser214Phe	rs773336530	missense variant	-	NC_000012.12:g.53214231G>A	ExAC,gnomAD
RARG	P13631	p.Ser215Cys	rs1224674839	missense variant	-	NC_000012.12:g.53214229T>A	gnomAD
RARG	P13631	p.Asp217His	rs772086275	missense variant	-	NC_000012.12:g.53214223C>G	ExAC,gnomAD
RARG	P13631	p.Asp217Glu	rs1267232452	missense variant	-	NC_000012.12:g.53214221G>T	TOPMed
RARG	P13631	p.Arg219Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214217G>T	NCI-TCGA
RARG	P13631	p.Arg219Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214217G>A	NCI-TCGA
RARG	P13631	p.Val220Met	rs887576106	missense variant	-	NC_000012.12:g.53214214C>T	TOPMed
RARG	P13631	p.Gln221Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.53214211G>A	NCI-TCGA
RARG	P13631	p.Gln221His	rs747987743	missense variant	-	NC_000012.12:g.53214209C>A	ExAC,gnomAD
RARG	P13631	p.Gln221Arg	rs1236591003	missense variant	-	NC_000012.12:g.53214210T>C	gnomAD
RARG	P13631	p.Gly225Arg	rs778785057	missense variant	-	NC_000012.12:g.53214199C>T	ExAC,gnomAD
RARG	P13631	p.Leu226Arg	COSM3462619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53214195A>C	NCI-TCGA Cosmic
RARG	P13631	p.Ala234Pro	COSM1299577	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53214172C>G	NCI-TCGA Cosmic
RARG	P13631	p.Thr235Asn	rs928219970	missense variant	-	NC_000012.12:g.53214168G>T	TOPMed
RARG	P13631	p.Ile241Val	rs1415224284	missense variant	-	NC_000012.12:g.53214151T>C	TOPMed
RARG	P13631	p.Val242Ala	COSM3792750	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53214147A>G	NCI-TCGA Cosmic
RARG	P13631	p.Val242Met	rs1288724003	missense variant	-	NC_000012.12:g.53214148C>T	gnomAD
RARG	P13631	p.Arg247Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214133G>A	NCI-TCGA
RARG	P13631	p.Arg247Leu	rs528795439	missense variant	-	NC_000012.12:g.53214132C>A	1000Genomes,ExAC,gnomAD
RARG	P13631	p.Arg247Gly	rs1045750229	missense variant	-	NC_000012.12:g.53214133G>C	TOPMed
RARG	P13631	p.Pro249Leu	COSM3871931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53214126G>A	NCI-TCGA Cosmic
RARG	P13631	p.Ile256Met	rs1292642280	missense variant	-	NC_000012.12:g.53214104A>C	TOPMed,gnomAD
RARG	P13631	p.Ala266Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214076C>T	NCI-TCGA
RARG	P13631	p.Ile270Thr	COSM3987030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53214063A>G	NCI-TCGA Cosmic
RARG	P13631	p.Leu271Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53214061G>C	NCI-TCGA
RARG	P13631	p.Arg274Cys	COSM5841354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213694G>A	NCI-TCGA Cosmic
RARG	P13631	p.Arg274His	rs1471979738	missense variant	-	NC_000012.12:g.53213693C>T	gnomAD
RARG	P13631	p.Thr277Arg	rs1459962750	missense variant	-	NC_000012.12:g.53213684G>C	TOPMed
RARG	P13631	p.Tyr279His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213679A>G	NCI-TCGA
RARG	P13631	p.Pro281GlnPheSerTerUnk	COSM1362661	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.53213672G>-	NCI-TCGA Cosmic
RARG	P13631	p.Pro281Ala	rs144015314	missense variant	-	NC_000012.12:g.53213673G>C	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Asp284Gly	rs1295132193	missense variant	-	NC_000012.12:g.53213663T>C	TOPMed
RARG	P13631	p.Thr285Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213660G>A	NCI-TCGA
RARG	P13631	p.Met286Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213658T>C	NCI-TCGA
RARG	P13631	p.Met286Ile	COSM1299576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213656C>G	NCI-TCGA Cosmic
RARG	P13631	p.Phe288Leu	COSM4847600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213650G>C	NCI-TCGA Cosmic
RARG	P13631	p.Ser289Phe	COSM3792746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213648G>A	NCI-TCGA Cosmic
RARG	P13631	p.Asp290Asn	rs1249971915	missense variant	-	NC_000012.12:g.53213646C>T	gnomAD
RARG	P13631	p.Gly291Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213643C>T	NCI-TCGA
RARG	P13631	p.Thr297Ser	rs778168925	missense variant	-	NC_000012.12:g.53213624G>C	ExAC,gnomAD
RARG	P13631	p.Asn301Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213612T>C	NCI-TCGA
RARG	P13631	p.Phe304Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213604A>G	NCI-TCGA
RARG	P13631	p.Gly305Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213600C>A	NCI-TCGA
RARG	P13631	p.Gly305Glu	COSM431376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213600C>T	NCI-TCGA Cosmic
RARG	P13631	p.Phe312Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213580A>C	NCI-TCGA
RARG	P13631	p.Ala313Pro	COSM1322410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213577C>G	NCI-TCGA Cosmic
RARG	P13631	p.Phe314LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53213575G>-	NCI-TCGA
RARG	P13631	p.Phe314Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213573A>G	NCI-TCGA
RARG	P13631	p.Ala315GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53213551_53213570CAGGGGCAGGAGCTGCCCAG>-	NCI-TCGA
RARG	P13631	p.Gly316Glu	rs1288518945	missense variant	-	NC_000012.12:g.53213567C>T	TOPMed
RARG	P13631	p.Gln317AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53213550_53213566CCAGGGGCAGGAGCTGC>-	NCI-TCGA
RARG	P13631	p.Gln317GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53213546_53213565ATCTCCAGGGGCAGGAGCTG>-	NCI-TCGA
RARG	P13631	p.Gln317GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.53213553_53213566GGGGCAGGAGCTGC>-	NCI-TCGA
RARG	P13631	p.Leu321Val	COSM3792744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213553G>C	NCI-TCGA Cosmic
RARG	P13631	p.Asp324Tyr	rs1452750916	missense variant	-	NC_000012.12:g.53213544C>A	TOPMed
RARG	P13631	p.Asp325Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213541C>T	NCI-TCGA
RARG	P13631	p.Glu327Lys	COSM3792742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213535C>T	NCI-TCGA Cosmic
RARG	P13631	p.Gly329Glu	rs1386908598	missense variant	-	NC_000012.12:g.53213528C>T	gnomAD
RARG	P13631	p.Ser332Gly	rs1231566775	missense variant	-	NC_000012.12:g.53213520T>C	TOPMed
RARG	P13631	p.Ile337Thr	rs756849337	missense variant	-	NC_000012.12:g.53213504A>G	ExAC,gnomAD
RARG	P13631	p.Gly339Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213498C>T	NCI-TCGA
RARG	P13631	p.Gly339Val	COSM3688307	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213498C>A	NCI-TCGA Cosmic
RARG	P13631	p.Gly339Arg	rs763938120	missense variant	-	NC_000012.12:g.53213499C>T	ExAC,TOPMed,gnomAD
RARG	P13631	p.Arg341His	rs865989392	missense variant	-	NC_000012.12:g.53213240C>T	-
RARG	P13631	p.Arg341Cys	rs754842832	missense variant	-	NC_000012.12:g.53213241G>A	ExAC
RARG	P13631	p.Met342Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213236C>T	NCI-TCGA
RARG	P13631	p.Met342Val	rs376354739	missense variant	-	NC_000012.12:g.53213238T>C	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Glu345Ala	rs1203189000	missense variant	-	NC_000012.12:g.53213228T>G	gnomAD
RARG	P13631	p.Glu348Lys	rs1275045820	missense variant	-	NC_000012.12:g.53213220C>T	gnomAD
RARG	P13631	p.Lys352Arg	rs139581410	missense variant	-	NC_000012.12:g.53213207T>C	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Leu353Met	rs1312605781	missense variant	-	NC_000012.12:g.53213205G>T	gnomAD
RARG	P13631	p.Gln354His	rs774501958	missense variant	-	NC_000012.12:g.53213200C>G	ExAC,gnomAD
RARG	P13631	p.Arg362Lys	COSM4858847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53213177C>T	NCI-TCGA Cosmic
RARG	P13631	p.Ala365Thr	rs150579991	missense variant	-	NC_000012.12:g.53213169C>T	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Ala365Ser	rs150579991	missense variant	-	NC_000012.12:g.53213169C>A	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Arg366Trp	rs749572280	missense variant	-	NC_000012.12:g.53213166G>A	ExAC,TOPMed,gnomAD
RARG	P13631	p.Arg366Gly	rs749572280	missense variant	-	NC_000012.12:g.53213166G>C	ExAC,TOPMed,gnomAD
RARG	P13631	p.Arg366Gln	rs1446141610	missense variant	-	NC_000012.12:g.53213165C>T	gnomAD
RARG	P13631	p.Arg367Cys	rs1222949637	missense variant	-	NC_000012.12:g.53213163G>A	TOPMed,gnomAD
RARG	P13631	p.Arg367His	rs747661662	missense variant	-	NC_000012.12:g.53213162C>T	ExAC,gnomAD
RARG	P13631	p.Arg368Gln	rs754474376	missense variant	-	NC_000012.12:g.53213159C>T	ExAC,gnomAD
RARG	P13631	p.Arg368Trp	rs143739684	missense variant	-	NC_000012.12:g.53213160G>A	ESP,ExAC,gnomAD
RARG	P13631	p.Arg369Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213156C>T	NCI-TCGA
RARG	P13631	p.Arg369Trp	rs757349755	missense variant	-	NC_000012.12:g.53213157G>A	TOPMed,gnomAD
RARG	P13631	p.Ser371Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53213151T>A	NCI-TCGA
RARG	P13631	p.Pro373Leu	rs749293562	missense variant	-	NC_000012.12:g.53213144G>A	ExAC,gnomAD
RARG	P13631	p.Tyr374His	rs138240233	missense variant	-	NC_000012.12:g.53213142A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Tyr374Cys	rs532295094	missense variant	-	NC_000012.12:g.53213141T>C	1000Genomes,ExAC,gnomAD
RARG	P13631	p.Tyr374Phe	rs532295094	missense variant	-	NC_000012.12:g.53213141T>A	1000Genomes,ExAC,gnomAD
RARG	P13631	p.Met375Ile	rs1313723970	missense variant	-	NC_000012.12:g.53213137C>T	gnomAD
RARG	P13631	p.Met375Val	rs370081012	missense variant	-	NC_000012.12:g.53213139T>C	ExAC,gnomAD
RARG	P13631	p.Met379Ile	rs751818808	missense variant	-	NC_000012.12:g.53213125C>T	ExAC,gnomAD
RARG	P13631	p.Asp385Glu	rs1411023777	missense variant	-	NC_000012.12:g.53213107G>T	TOPMed,gnomAD
RARG	P13631	p.Asp385Asn	rs763093625	missense variant	-	NC_000012.12:g.53213109C>T	ExAC,gnomAD
RARG	P13631	p.Arg387Gln	rs776186919	missense variant	-	NC_000012.12:g.53213102C>T	ExAC,gnomAD
RARG	P13631	p.Thr391Ile	rs765615833	missense variant	-	NC_000012.12:g.53213090G>A	ExAC,gnomAD
RARG	P13631	p.Thr391Ala	rs1426949912	missense variant	-	NC_000012.12:g.53213091T>C	gnomAD
RARG	P13631	p.Glu395Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53211858C>T	NCI-TCGA
RARG	P13631	p.Arg396Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53211855T>C	NCI-TCGA
RARG	P13631	p.Ala397Val	rs1384490766	missense variant	-	NC_000012.12:g.53211851G>A	TOPMed
RARG	P13631	p.Lys401Thr	rs759902989	missense variant	-	NC_000012.12:g.53211839T>G	ExAC
RARG	P13631	p.Met402Thr	rs201808801	missense variant	-	NC_000012.12:g.53211836A>G	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Glu403Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53211834C>G	NCI-TCGA
RARG	P13631	p.Pro405Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.53211828G>C	NCI-TCGA
RARG	P13631	p.Pro407Leu	rs760999231	missense variant	-	NC_000012.12:g.53211821G>A	ExAC,gnomAD
RARG	P13631	p.Pro407Arg	rs760999231	missense variant	-	NC_000012.12:g.53211821G>C	ExAC,gnomAD
RARG	P13631	p.Arg413Gln	rs768255271	missense variant	-	NC_000012.12:g.53211803C>T	ExAC,TOPMed,gnomAD
RARG	P13631	p.Asn418Lys	COSM4931876	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53211787G>C	NCI-TCGA Cosmic
RARG	P13631	p.Pro419Arg	rs1322959391	missense variant	-	NC_000012.12:g.53211785G>C	gnomAD
RARG	P13631	p.Glu420Gly	rs774801685	missense variant	-	NC_000012.12:g.53211782T>C	ExAC,gnomAD
RARG	P13631	p.Met421Ile	rs769329543	missense variant	-	NC_000012.12:g.53211778C>T	ExAC,gnomAD
RARG	P13631	p.Glu423Ala	rs745859701	missense variant	-	NC_000012.12:g.53211773T>G	ExAC,gnomAD
RARG	P13631	p.Glu423Asp	rs781152869	missense variant	-	NC_000012.12:g.53211772C>G	ExAC,gnomAD
RARG	P13631	p.Ser427Leu	rs2229774	missense variant	-	NC_000012.12:g.53211761G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Gln428Pro	rs1403311383	missense variant	-	NC_000012.12:g.53211758T>G	gnomAD
RARG	P13631	p.Gln428Lys	rs758628664	missense variant	-	NC_000012.12:g.53211759G>T	ExAC,gnomAD
RARG	P13631	p.Gly430Ser	VAR_036061	Missense	-	-	UniProt
RARG	P13631	p.His432Tyr	rs937877745	missense variant	-	NC_000012.12:g.53211747G>A	TOPMed,gnomAD
RARG	P13631	p.Pro433Thr	rs752835490	missense variant	-	NC_000012.12:g.53211744G>T	ExAC,gnomAD
RARG	P13631	p.Ala435Val	rs1268784581	missense variant	-	NC_000012.12:g.53211737G>A	TOPMed
RARG	P13631	p.Ser437Arg	COSM1299574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.53211730G>C	NCI-TCGA Cosmic
RARG	P13631	p.Ser437Ile	rs554853535	missense variant	-	NC_000012.12:g.53211731C>A	1000Genomes,ExAC,TOPMed,gnomAD
RARG	P13631	p.Glu438Lys	rs555608509	missense variant	-	NC_000012.12:g.53211729C>T	TOPMed,gnomAD
RARG	P13631	p.Asp439Asn	rs1202245173	missense variant	-	NC_000012.12:g.53211726C>T	gnomAD
RARG	P13631	p.Val441Phe	rs1483582359	missense variant	-	NC_000012.12:g.53211720C>A	gnomAD
RARG	P13631	p.Pro442Ser	rs766890278	missense variant	-	NC_000012.12:g.53211717G>A	ExAC,gnomAD
RARG	P13631	p.Gly443Val	rs1225817596	missense variant	-	NC_000012.12:g.53211713C>A	gnomAD
RARG	P13631	p.Gly444Asp	rs750716751	missense variant	-	NC_000012.12:g.53211710C>T	ExAC,gnomAD
RARG	P13631	p.Gln445Arg	rs763746430	missense variant	-	NC_000012.12:g.53211707T>C	ExAC,gnomAD
RARG	P13631	p.Gly448Glu	rs1203039353	missense variant	-	NC_000012.12:g.53211698C>T	TOPMed
RARG	P13631	p.Leu450Arg	rs373212761	missense variant	-	NC_000012.12:g.53211692A>C	ESP,ExAC,TOPMed,gnomAD
RARG	P13631	p.Pro453Ser	rs776455132	missense variant	-	NC_000012.12:g.53211684G>A	ExAC,gnomAD
RARG	P13631	p.Ter455Ser	rs770953830	stop lost	-	NC_000012.12:g.53211677C>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Met1Thr	RCV000056584	missense variant	-	NC_000012.12:g.52520295A>G	ClinVar
KRT5	P13647	p.Met1Val	RCV000484793	missense variant	-	NC_000012.12:g.52520296T>C	ClinVar
KRT5	P13647	p.Arg3His	rs770091254	missense variant	-	NC_000012.12:g.52520289C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg3Cys	rs200156424	missense variant	-	NC_000012.12:g.52520290G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gln4Ter	rs267607455	stop gained	-	NC_000012.12:g.52520287G>A	-
KRT5	P13647	p.Gln4Pro	rs1473238308	missense variant	-	NC_000012.12:g.52520286T>G	TOPMed,gnomAD
KRT5	P13647	p.Gln4Ter	RCV000056543	nonsense	-	NC_000012.12:g.52520287G>A	ClinVar
KRT5	P13647	p.Ser5Ter	RCV000015753	nonsense	Dowling-Degos disease 1	NC_000012.12:g.52520283G>T	ClinVar
KRT5	P13647	p.Ser5Leu	rs58751565	missense variant	-	NC_000012.12:g.52520283G>A	ExAC,gnomAD
KRT5	P13647	p.Ser5Ter	rs58751565	stop gained	-	NC_000012.12:g.52520283G>T	ExAC,gnomAD
KRT5	P13647	p.Ser5Pro	rs1267266121	missense variant	-	NC_000012.12:g.52520284A>G	gnomAD
KRT5	P13647	p.Val7Ala	rs121912474	missense variant	-	NC_000012.12:g.52520277A>G	TOPMed
KRT5	P13647	p.Val7Glu	rs121912474	missense variant	-	NC_000012.12:g.52520277A>T	TOPMed
KRT5	P13647	p.Val7Ala	RCV000015752	missense variant	Epidermolysis bullosa simplex, Koebner type	NC_000012.12:g.52520277A>G	ClinVar
KRT5	P13647	p.Ser8Phe	rs913174272	missense variant	-	NC_000012.12:g.52520274G>A	gnomAD
KRT5	P13647	p.Phe9Leu	rs367853808	missense variant	-	NC_000012.12:g.52520270G>C	ESP,ExAC
KRT5	P13647	p.Arg10Trp	rs148526538	missense variant	-	NC_000012.12:g.52520269G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg10Gly	rs148526538	missense variant	-	NC_000012.12:g.52520269G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg10Gln	rs753298083	missense variant	-	NC_000012.12:g.52520268C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser11Asn	rs750089477	missense variant	-	NC_000012.12:g.52520265C>T	ExAC,gnomAD
KRT5	P13647	p.Ser11Gly	rs755664811	missense variant	-	NC_000012.12:g.52520266T>C	ExAC,gnomAD
KRT5	P13647	p.Gly12Trp	rs751876144	missense variant	-	NC_000012.12:g.52520263C>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly12Arg	rs751876144	missense variant	-	NC_000012.12:g.52520263C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly13Val	rs1367644026	missense variant	-	NC_000012.12:g.52520259C>A	TOPMed,gnomAD
KRT5	P13647	p.Gly13Asp	rs1367644026	missense variant	-	NC_000012.12:g.52520259C>T	TOPMed,gnomAD
KRT5	P13647	p.Ser14GlnPheSerTerUnk	COSM5200365	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.52520258_52520259insC	NCI-TCGA Cosmic
KRT5	P13647	p.Arg15Leu	rs372305341	missense variant	-	NC_000012.12:g.52520253C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg15Cys	rs374322915	missense variant	-	NC_000012.12:g.52520254G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg15His	rs372305341	missense variant	-	NC_000012.12:g.52520253C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Thr19Ala	rs769963375	missense variant	-	NC_000012.12:g.52520242T>C	ExAC,gnomAD
KRT5	P13647	p.Thr19Ile	rs1458034065	missense variant	-	NC_000012.12:g.52520241G>A	gnomAD
KRT5	P13647	p.Ala20Thr	rs776895650	missense variant	-	NC_000012.12:g.52520239C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser21Phe	rs368584130	missense variant	-	NC_000012.12:g.52520235G>A	ESP,ExAC,gnomAD
KRT5	P13647	p.Ser21Tyr	rs368584130	missense variant	-	NC_000012.12:g.52520235G>T	ESP,ExAC,gnomAD
KRT5	P13647	p.Ala22Gly	rs374462183	missense variant	-	NC_000012.12:g.52520232G>C	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ile23Val	rs1463762295	missense variant	-	NC_000012.12:g.52520230T>C	gnomAD
KRT5	P13647	p.Thr24Asn	rs768490644	missense variant	-	NC_000012.12:g.52520226G>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Thr24Ser	rs768490644	missense variant	-	NC_000012.12:g.52520226G>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Pro25Leu	RCV000015754	missense variant	Epidermolysis bullosa simplex with mottled pigmentation (EBSMP)	NC_000012.12:g.52520223G>A	ClinVar
KRT5	P13647	p.Pro25Leu	rs57499817	missense variant	Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS)	NC_000012.12:g.52520223G>A	UniProt,dbSNP
KRT5	P13647	p.Pro25Leu	VAR_010453	missense variant	Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS)	NC_000012.12:g.52520223G>A	UniProt
KRT5	P13647	p.Pro25Ser	COSM3462325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52520224G>A	NCI-TCGA Cosmic
KRT5	P13647	p.Ser26Phe	COSM694194	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52520220G>A	NCI-TCGA Cosmic
KRT5	P13647	p.Val27Ile	rs1235374200	missense variant	-	NC_000012.12:g.52520218C>T	gnomAD
KRT5	P13647	p.Ser28Phe	rs1312675397	missense variant	-	NC_000012.12:g.52520214G>A	gnomAD
KRT5	P13647	p.Arg29His	rs543574061	missense variant	-	NC_000012.12:g.52520211C>T	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Arg29Cys	rs1274640779	missense variant	-	NC_000012.12:g.52520212G>A	TOPMed,gnomAD
KRT5	P13647	p.Arg29Leu	rs543574061	missense variant	-	NC_000012.12:g.52520211C>A	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Ser31ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52520207_52520208insGT	NCI-TCGA
KRT5	P13647	p.Thr33Asn	rs1366922155	missense variant	-	NC_000012.12:g.52520199G>T	gnomAD
KRT5	P13647	p.Val35ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52520194_52520195insGG	NCI-TCGA
KRT5	P13647	p.Val35Met	rs374017172	missense variant	-	NC_000012.12:g.52520194C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg37Gln	RCV000307467	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52520187C>T	ClinVar
KRT5	P13647	p.Arg37Gln	rs61747181	missense variant	-	NC_000012.12:g.52520187C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg37Trp	rs370714132	missense variant	-	NC_000012.12:g.52520188G>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg37Leu	rs61747181	missense variant	-	NC_000012.12:g.52520187C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser38Phe	rs1168120051	missense variant	-	NC_000012.12:g.52520184G>A	gnomAD
KRT5	P13647	p.Ser38Ala	rs541279700	missense variant	-	NC_000012.12:g.52520185A>C	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly39Arg	rs146136560	missense variant	-	NC_000012.12:g.52520182C>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly39Ala	COSM3462324	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52520181C>G	NCI-TCGA Cosmic
KRT5	P13647	p.Gly39Trp	rs146136560	missense variant	-	NC_000012.12:g.52520182C>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly39Arg	RCV000268669	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52520182C>T	ClinVar
KRT5	P13647	p.Gly39Val	rs773464963	missense variant	-	NC_000012.12:g.52520181C>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly40Asp	rs749140215	missense variant	-	NC_000012.12:g.52520178C>T	ExAC,gnomAD
KRT5	P13647	p.Gly40Val	rs749140215	missense variant	-	NC_000012.12:g.52520178C>A	ExAC,gnomAD
KRT5	P13647	p.Gly41Asp	rs1170652770	missense variant	-	NC_000012.12:g.52520175C>T	gnomAD
KRT5	P13647	p.Gly41Ser	rs775353075	missense variant	-	NC_000012.12:g.52520176C>T	ExAC,gnomAD
KRT5	P13647	p.Gly42Ser	rs201264698	missense variant	-	NC_000012.12:g.52520173C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly44Val	rs375759050	missense variant	-	NC_000012.12:g.52520166C>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly45Ser	rs756838467	missense variant	-	NC_000012.12:g.52520164C>T	ExAC,gnomAD
KRT5	P13647	p.Phe46Ile	rs777631293	missense variant	-	NC_000012.12:g.52520161A>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly47Ser	rs144480716	missense variant	-	NC_000012.12:g.52520158C>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg48Gly	rs61747180	missense variant	-	NC_000012.12:g.52520155T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg48Lys	rs1403548834	missense variant	-	NC_000012.12:g.52520154C>T	TOPMed,gnomAD
KRT5	P13647	p.Val49Gly	rs760876234	missense variant	-	NC_000012.12:g.52520151A>C	ExAC,gnomAD
KRT5	P13647	p.Ser50Thr	rs199505033	missense variant	-	NC_000012.12:g.52520148C>G	TOPMed
KRT5	P13647	p.Ala52Val	rs773410009	missense variant	-	NC_000012.12:g.52520142G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly53Asp	rs556992218	missense variant	-	NC_000012.12:g.52520139C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala54Thr	rs1366927682	missense variant	-	NC_000012.12:g.52520137C>T	TOPMed,gnomAD
KRT5	P13647	p.Gly59Val	rs769725141	missense variant	-	NC_000012.12:g.52520121C>A	ExAC,gnomAD
KRT5	P13647	p.Tyr60Asn	COSM4923633	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52520119A>T	NCI-TCGA Cosmic
KRT5	P13647	p.Ser62Arg	rs745773711	missense variant	-	NC_000012.12:g.52520111G>C	ExAC,gnomAD
KRT5	P13647	p.Arg63Gln	rs375273687	missense variant	-	NC_000012.12:g.52520109C>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg63Trp	rs776667863	missense variant	-	NC_000012.12:g.52520110G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Leu65Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52520104G>T	NCI-TCGA
KRT5	P13647	p.Asn67Ser	rs1007089956	missense variant	-	NC_000012.12:g.52520097T>C	TOPMed
KRT5	P13647	p.Leu68Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52520095G>T	NCI-TCGA
KRT5	P13647	p.Gly69Glu	rs1374537032	missense variant	-	NC_000012.12:g.52520091C>T	TOPMed
KRT5	P13647	p.Gly70Ala	rs540081758	missense variant	-	NC_000012.12:g.52520088C>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly70Asp	rs540081758	missense variant	-	NC_000012.12:g.52520088C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly70AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52520088C>-	NCI-TCGA
KRT5	P13647	p.Gly70Val	rs540081758	missense variant	-	NC_000012.12:g.52520088C>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser71LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52520087_52520088insC	NCI-TCGA
KRT5	P13647	p.Arg73Thr	rs1285526841	missense variant	-	NC_000012.12:g.52520079C>G	gnomAD
KRT5	P13647	p.Ile74Thr	rs1463063008	missense variant	-	NC_000012.12:g.52520076A>G	TOPMed
KRT5	P13647	p.Ile74Leu	rs779166505	missense variant	-	NC_000012.12:g.52520077T>A	ExAC,gnomAD
KRT5	P13647	p.Ile74Val	rs779166505	missense variant	-	NC_000012.12:g.52520077T>C	ExAC,gnomAD
KRT5	P13647	p.Ser75Pro	rs1283483642	missense variant	-	NC_000012.12:g.52520074A>G	TOPMed,gnomAD
KRT5	P13647	p.Ser75Tyr	rs755413229	missense variant	-	NC_000012.12:g.52520073G>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ile76Ser	rs1288077456	missense variant	-	NC_000012.12:g.52520070A>C	gnomAD
KRT5	P13647	p.Ser77IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52520067_52520068insATCAA	NCI-TCGA
KRT5	P13647	p.Thr78Ser	rs754297557	missense variant	-	NC_000012.12:g.52520064G>C	ExAC,gnomAD
KRT5	P13647	p.Ser79Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52520061C>A	NCI-TCGA
KRT5	P13647	p.Ser79Arg	rs1065115	missense variant	-	NC_000012.12:g.52520060A>T	-
KRT5	P13647	p.Ser79Arg	rs1065115	missense variant	-	NC_000012.12:g.52520060A>T	UniProt,dbSNP
KRT5	P13647	p.Ser79Arg	VAR_028763	missense variant	-	NC_000012.12:g.52520060A>T	UniProt
KRT5	P13647	p.Ser79Arg	RCV000056582	missense variant	-	NC_000012.12:g.52520060A>T	ClinVar
KRT5	P13647	p.Phe83Leu	rs1372929067	missense variant	-	NC_000012.12:g.52520050A>G	TOPMed,gnomAD
KRT5	P13647	p.Asn85Ser	rs756129437	missense variant	-	NC_000012.12:g.52520043T>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg86Gln	rs762047842	missense variant	-	NC_000012.12:g.52520040C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg86Pro	rs762047842	missense variant	-	NC_000012.12:g.52520040C>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg86Trp	rs373163099	missense variant	-	NC_000012.12:g.52520041G>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Phe87Val	RCV000348479	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52520038A>C	ClinVar
KRT5	P13647	p.Phe87Val	rs61747188	missense variant	-	NC_000012.12:g.52520038A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Phe87Ser	rs375333850	missense variant	-	NC_000012.12:g.52520037A>G	ESP,ExAC,gnomAD
KRT5	P13647	p.Gly88Cys	rs770910564	missense variant	-	NC_000012.12:g.52520035C>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly88Ser	rs770910564	missense variant	-	NC_000012.12:g.52520035C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala89Ser	rs1207950244	missense variant	-	NC_000012.12:g.52520032C>A	TOPMed
KRT5	P13647	p.Ala89Val	rs1252446552	missense variant	-	NC_000012.12:g.52520031G>A	gnomAD
KRT5	P13647	p.Ala91Thr	rs142778320	missense variant	-	NC_000012.12:g.52520026C>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly92Arg	rs1428870322	missense variant	-	NC_000012.12:g.52520023C>T	TOPMed
KRT5	P13647	p.Gly93Ser	rs1415918495	missense variant	-	NC_000012.12:g.52520020C>T	gnomAD
KRT5	P13647	p.Gly94Asp	rs778696476	missense variant	-	NC_000012.12:g.52520016C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly94Ser	rs138806570	missense variant	-	NC_000012.12:g.52520017C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Tyr95Cys	rs1267955312	missense variant	-	NC_000012.12:g.52520013T>C	gnomAD
KRT5	P13647	p.Gly96Asp	rs768890570	missense variant	-	NC_000012.12:g.52520010C>T	ExAC,gnomAD
KRT5	P13647	p.Gly98Val	rs534913364	missense variant	-	NC_000012.12:g.52520004C>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly98Glu	rs534913364	missense variant	-	NC_000012.12:g.52520004C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly100Asp	rs780359251	missense variant	-	NC_000012.12:g.52519998C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala101Thr	rs372204272	missense variant	-	NC_000012.12:g.52519996C>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala101Asp	rs1325571536	missense variant	-	NC_000012.12:g.52519995G>T	gnomAD
KRT5	P13647	p.Gly102Ser	rs539432563	missense variant	-	NC_000012.12:g.52519993C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly104Glu	rs757370875	missense variant	-	NC_000012.12:g.52519986C>T	ExAC,gnomAD
KRT5	P13647	p.Gly104Arg	COSM3462323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52519987C>T	NCI-TCGA Cosmic
KRT5	P13647	p.Phe107Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519978A>G	NCI-TCGA
KRT5	P13647	p.Phe107Tyr	rs1237453275	missense variant	-	NC_000012.12:g.52519977A>T	gnomAD
KRT5	P13647	p.Gly108Ser	rs146022149	missense variant	-	NC_000012.12:g.52519975C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly108Arg	rs146022149	missense variant	-	NC_000012.12:g.52519975C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly108Asp	rs764430671	missense variant	-	NC_000012.12:g.52519974C>T	ExAC,gnomAD
KRT5	P13647	p.Gly109Val	rs766378801	missense variant	-	NC_000012.12:g.52519971C>A	ExAC,gnomAD
KRT5	P13647	p.Gly109Ser	rs753671394	missense variant	-	NC_000012.12:g.52519972C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala111Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519965G>T	NCI-TCGA
KRT5	P13647	p.Ala111Ser	rs1245745607	missense variant	-	NC_000012.12:g.52519966C>A	gnomAD
KRT5	P13647	p.Gly112Val	rs760710214	missense variant	-	NC_000012.12:g.52519962C>A	ExAC,gnomAD
KRT5	P13647	p.Phe115Ser	rs1262403815	missense variant	-	NC_000012.12:g.52519953A>G	TOPMed
KRT5	P13647	p.Gly116Glu	rs549383569	missense variant	-	NC_000012.12:g.52519950C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Leu117Phe	rs1219197486	missense variant	-	NC_000012.12:g.52519948G>A	TOPMed,gnomAD
KRT5	P13647	p.Leu117Ile	rs1219197486	missense variant	-	NC_000012.12:g.52519948G>T	TOPMed,gnomAD
KRT5	P13647	p.Leu117Arg	rs761445270	missense variant	-	NC_000012.12:g.52519947A>C	ExAC,gnomAD
KRT5	P13647	p.Gly118Ser	RCV000405206	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52519945C>T	ClinVar
KRT5	P13647	p.Gly118Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519944C>T	NCI-TCGA
KRT5	P13647	p.Gly118Arg	rs368543262	missense variant	-	NC_000012.12:g.52519945C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly118Ser	rs368543262	missense variant	-	NC_000012.12:g.52519945C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly120Arg	rs200116437	missense variant	-	NC_000012.12:g.52519939C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly122Asp	rs1345528074	missense variant	-	NC_000012.12:g.52519932C>T	gnomAD
KRT5	P13647	p.Gly122Ser	rs781712315	missense variant	-	NC_000012.12:g.52519933C>T	ExAC,gnomAD
KRT5	P13647	p.Phe127Leu	rs150390099	missense variant	-	NC_000012.12:g.52519916G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Phe127Leu	RCV000278442	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52519916G>T	ClinVar
KRT5	P13647	p.Gly128Ser	rs267607657	missense variant	-	NC_000012.12:g.52519915C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly128Arg	rs267607657	missense variant	-	NC_000012.12:g.52519915C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly128Arg	RCV000056585	missense variant	-	NC_000012.12:g.52519915C>G	ClinVar
KRT5	P13647	p.Gly129Val	rs758678109	missense variant	-	NC_000012.12:g.52519911C>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Pro130Leu	rs1393784742	missense variant	-	NC_000012.12:g.52519908G>A	TOPMed
KRT5	P13647	p.Pro133Ser	COSM3462322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52519900G>A	NCI-TCGA Cosmic
KRT5	P13647	p.Pro136Ala	rs1465043680	missense variant	-	NC_000012.12:g.52519891G>C	gnomAD
KRT5	P13647	p.Pro136ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52519858_52519891GGTTGACAGTGACCTCTTGGATACCTCCAGGAGG>-	NCI-TCGA
KRT5	P13647	p.Pro136Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519890G>A	NCI-TCGA
KRT5	P13647	p.Pro137Ser	rs756012140	missense variant	-	NC_000012.12:g.52519888G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Pro137Ala	rs756012140	missense variant	-	NC_000012.12:g.52519888G>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly138Glu	rs11170164	missense variant	-	NC_000012.12:g.52519884C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly138Glu	RCV000056586	missense variant	-	NC_000012.12:g.52519884C>T	ClinVar
KRT5	P13647	p.Gly139Ser	COSM3462321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52519882C>T	NCI-TCGA Cosmic
KRT5	P13647	p.Gly139Asp	rs759981510	missense variant	-	NC_000012.12:g.52519881C>T	TOPMed,gnomAD
KRT5	P13647	p.Ile140Ter	RCV000015762	frameshift	Dowling-Degos disease 1	NC_000012.12:g.52519879dup	ClinVar
KRT5	P13647	p.Ile140Ter	RCV000056587	frameshift	-	NC_000012.12:g.52519879dup	ClinVar
KRT5	P13647	p.Glu142Ala	rs1349743696	missense variant	-	NC_000012.12:g.52519872T>G	TOPMed
KRT5	P13647	p.Glu142Gln	rs776798169	missense variant	-	NC_000012.12:g.52519873C>G	gnomAD
KRT5	P13647	p.Val143Ala	rs59851104	missense variant	-	NC_000012.12:g.52519869A>G	-
KRT5	P13647	p.Val143Phe	rs267607439	missense variant	-	NC_000012.12:g.52519870C>A	-
KRT5	P13647	p.Val143Asp	RCV000056589	missense variant	-	NC_000012.12:g.52519869A>T	ClinVar
KRT5	P13647	p.Val143Ala	RCV000056590	missense variant	-	NC_000012.12:g.52519869A>G	ClinVar
KRT5	P13647	p.Val143Asp	rs59851104	missense variant	-	NC_000012.12:g.52519869A>T	-
KRT5	P13647	p.Val143Phe	RCV000056588	missense variant	-	NC_000012.12:g.52519870C>A	ClinVar
KRT5	P13647	p.Thr144Ala	rs891300273	missense variant	-	NC_000012.12:g.52519867T>C	TOPMed
KRT5	P13647	p.Thr144Ser	rs1235137513	missense variant	-	NC_000012.12:g.52519866G>C	gnomAD
KRT5	P13647	p.Val145Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519863A>G	NCI-TCGA
KRT5	P13647	p.Val145Asp	RCV000657959	missense variant	-	NC_000012.12:g.52519863A>T	ClinVar
KRT5	P13647	p.Val145Asp	rs1555156480	missense variant	-	NC_000012.12:g.52519863A>T	-
KRT5	P13647	p.Gln147Lys	rs1398442332	missense variant	-	NC_000012.12:g.52519858G>T	gnomAD
KRT5	P13647	p.Ser148Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519854C>T	NCI-TCGA
KRT5	P13647	p.Leu149Pro	RCV000056592	missense variant	-	NC_000012.12:g.52519851A>G	ClinVar
KRT5	P13647	p.Leu149Ter	RCV000056591	frameshift	-	NC_000012.12:g.52519854_52519855CT[1]	ClinVar
KRT5	P13647	p.Leu149Ile	COSM177294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52519852G>T	NCI-TCGA Cosmic
KRT5	P13647	p.Leu149Pro	rs267607449	missense variant	-	NC_000012.12:g.52519851A>G	-
KRT5	P13647	p.Leu150Pro	RCV000056593	missense variant	-	NC_000012.12:g.52519848A>G	ClinVar
KRT5	P13647	p.Leu150Pro	rs62635291	missense variant	-	NC_000012.12:g.52519848A>G	-
KRT5	P13647	p.Thr151Pro	RCV000056594	missense variant	-	NC_000012.12:g.52519846T>G	ClinVar
KRT5	P13647	p.Thr151Pro	rs267607450	missense variant	-	NC_000012.12:g.52519846T>G	-
KRT5	P13647	p.Pro152Thr	rs761161855	missense variant	-	NC_000012.12:g.52519843G>T	ExAC,gnomAD
KRT5	P13647	p.Pro152Ser	COSM3462320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52519843G>A	NCI-TCGA Cosmic
KRT5	P13647	p.Pro152Leu	RCV000056595	missense variant	-	NC_000012.12:g.52519842G>A	ClinVar
KRT5	P13647	p.Pro152Leu	rs60617604	missense variant	-	NC_000012.12:g.52519842G>A	-
KRT5	P13647	p.Leu153Pro	rs1230945384	missense variant	-	NC_000012.12:g.52519839A>G	gnomAD
KRT5	P13647	p.Leu155Met	rs1283445616	missense variant	-	NC_000012.12:g.52519834G>T	TOPMed,gnomAD
KRT5	P13647	p.Gln156His	rs1180564454	missense variant	-	NC_000012.12:g.52519829T>G	TOPMed,gnomAD
KRT5	P13647	p.Asp158Val	RCV000056596	missense variant	-	NC_000012.12:g.52519824T>A	ClinVar
KRT5	P13647	p.Asp158Tyr	RCV000435783	missense variant	-	NC_000012.12:g.52519825C>A	ClinVar
KRT5	P13647	p.Asp158Asn	rs763608512	missense variant	-	NC_000012.12:g.52519825C>T	ExAC,gnomAD
KRT5	P13647	p.Asp158Tyr	rs763608512	missense variant	-	NC_000012.12:g.52519825C>A	ExAC,gnomAD
KRT5	P13647	p.Asp158Val	rs61222761	missense variant	-	NC_000012.12:g.52519824T>A	-
KRT5	P13647	p.Asp158Glu	rs1244115077	missense variant	-	NC_000012.12:g.52519823G>T	gnomAD
KRT5	P13647	p.Ser160Gly	rs1177284228	missense variant	-	NC_000012.12:g.52519819T>C	TOPMed
KRT5	P13647	p.Ile161Asn	RCV000489360	missense variant	-	NC_000012.12:g.52519815A>T	ClinVar
KRT5	P13647	p.Ile161Ser	rs58058996	missense variant	-	NC_000012.12:g.52519815A>C	-
KRT5	P13647	p.Ile161Ser	RCV000015746	missense variant	Epidermolysis bullosa simplex, Cockayne-Touraine type	NC_000012.12:g.52519815A>C	ClinVar
KRT5	P13647	p.Ile161Ser	RCV000056597	missense variant	-	NC_000012.12:g.52519815A>C	ClinVar
KRT5	P13647	p.Ile161Phe	rs1368209148	missense variant	-	NC_000012.12:g.52519816T>A	gnomAD
KRT5	P13647	p.Ile161Asn	rs58058996	missense variant	-	NC_000012.12:g.52519815A>T	-
KRT5	P13647	p.Gln162Ter	COSM3462319	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.52519813G>A	NCI-TCGA Cosmic
KRT5	P13647	p.Gln162His	rs762648653	missense variant	-	NC_000012.12:g.52519811C>A	ExAC,gnomAD
KRT5	P13647	p.Arg163Ser	rs267607436	missense variant	-	NC_000012.12:g.52519808C>A	TOPMed
KRT5	P13647	p.Arg163Ser	RCV000056598	missense variant	-	NC_000012.12:g.52519808C>A	ClinVar
KRT5	P13647	p.Arg165Ser	RCV000056599	missense variant	-	NC_000012.12:g.52519802C>A	ClinVar
KRT5	P13647	p.Arg165Ser	rs267607456	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519802C>A	UniProt,dbSNP
KRT5	P13647	p.Arg165Ser	VAR_071630	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519802C>A	UniProt
KRT5	P13647	p.Arg165Ser	rs267607456	missense variant	-	NC_000012.12:g.52519802C>G	-
KRT5	P13647	p.Arg165Ser	RCV000497581	missense variant	-	NC_000012.12:g.52519802C>G	ClinVar
KRT5	P13647	p.Glu167Lys	RCV000056600	missense variant	-	NC_000012.12:g.52519798C>T	ClinVar
KRT5	P13647	p.Glu167Lys	rs57378129	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52519798C>T	UniProt,dbSNP
KRT5	P13647	p.Glu167Lys	VAR_026536	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52519798C>T	UniProt
KRT5	P13647	p.Glu167Lys	rs57378129	missense variant	-	NC_000012.12:g.52519798C>T	ExAC,gnomAD
KRT5	P13647	p.Glu167Gln	rs57378129	missense variant	-	NC_000012.12:g.52519798C>G	ExAC,gnomAD
KRT5	P13647	p.Glu168Lys	RCV000056601	missense variant	-	NC_000012.12:g.52519795C>T	ClinVar
KRT5	P13647	p.Glu168Lys	rs58619430	missense variant	-	NC_000012.12:g.52519795C>T	-
KRT5	P13647	p.Arg169Pro	RCV000056602	missense variant	-	NC_000012.12:g.52519791C>G	ClinVar
KRT5	P13647	p.Arg169His	rs60720877	missense variant	-	NC_000012.12:g.52519791C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg169Cys	rs746285968	missense variant	-	NC_000012.12:g.52519792G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg169Pro	rs60720877	missense variant	-	NC_000012.12:g.52519791C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg169Pro	rs60720877	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519791C>G	UniProt,dbSNP
KRT5	P13647	p.Arg169Pro	VAR_027723	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519791C>G	UniProt
KRT5	P13647	p.Arg169Ser	rs746285968	missense variant	-	NC_000012.12:g.52519792G>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu170Gly	rs57408864	missense variant	-	NC_000012.12:g.52519788T>C	gnomAD
KRT5	P13647	p.Glu170Lys	RCV000015763	missense variant	Epidermolysis bullosa simplex, autosomal recessive (EBSB1)	NC_000012.12:g.52519789C>T	ClinVar
KRT5	P13647	p.Glu170Lys	RCV000015764	missense variant	Epidermolysis bullosa simplex, Cockayne-Touraine type	NC_000012.12:g.52519789C>T	ClinVar
KRT5	P13647	p.Glu170Lys	RCV000056603	missense variant	-	NC_000012.12:g.52519789C>T	ClinVar
KRT5	P13647	p.Glu170Gly	RCV000056604	missense variant	-	NC_000012.12:g.52519788T>C	ClinVar
KRT5	P13647	p.Glu170Val	rs57408864	missense variant	-	NC_000012.12:g.52519788T>A	gnomAD
KRT5	P13647	p.Glu170Lys	rs59115483	missense variant	-	NC_000012.12:g.52519789C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu170Lys	rs59115483	missense variant	Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)	NC_000012.12:g.52519789C>T	UniProt,dbSNP
KRT5	P13647	p.Glu170Lys	VAR_026537	missense variant	Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)	NC_000012.12:g.52519789C>T	UniProt
KRT5	P13647	p.Gln171Glu	rs573548957	missense variant	-	NC_000012.12:g.52519786G>C	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Gln171Lys	rs573548957	missense variant	-	NC_000012.12:g.52519786G>T	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Ile172Val	RCV000056606	missense variant	-	NC_000012.12:g.52519783T>C	ClinVar
KRT5	P13647	p.Ile172Val	rs267607445	missense variant	-	NC_000012.12:g.52519783T>C	-
KRT5	P13647	p.Lys173Asn	RCV000056607	missense variant	-	NC_000012.12:g.52519778C>G	ClinVar
KRT5	P13647	p.Thr174Ile	rs1308300982	missense variant	-	NC_000012.12:g.52519776G>A	TOPMed,gnomAD
KRT5	P13647	p.Leu175Phe	rs57890479	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519774G>A	UniProt,dbSNP
KRT5	P13647	p.Leu175Phe	VAR_010456	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519774G>A	UniProt
KRT5	P13647	p.Leu175Phe	RCV000015751	missense variant	Epidermolysis bullosa herpetiformis, Dowling-Meara (EBSDM)	NC_000012.12:g.52519774G>A	ClinVar
KRT5	P13647	p.Asn176Ser	RCV000056609	missense variant	-	NC_000012.12:g.52519770T>C	ClinVar
KRT5	P13647	p.Asn176Ser	rs59092197	missense variant	-	NC_000012.12:g.52519770T>C	-
KRT5	P13647	p.Asn177Ser	RCV000056610	missense variant	-	NC_000012.12:g.52519767T>C	ClinVar
KRT5	P13647	p.Asn177Ser	rs61495052	missense variant	-	NC_000012.12:g.52519767T>C	-
KRT5	P13647	p.Phe179Ser	RCV000056612	missense variant	-	NC_000012.12:g.52519761A>G	ClinVar
KRT5	P13647	p.Phe179Ser	rs57781042	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519761A>G	UniProt,dbSNP
KRT5	P13647	p.Phe179Ser	VAR_010458	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519761A>G	UniProt
KRT5	P13647	p.Phe179Ser	rs57781042	missense variant	-	NC_000012.12:g.52519761A>G	-
KRT5	P13647	p.Ala180Pro	rs267607451	missense variant	-	NC_000012.12:g.52519759C>G	-
KRT5	P13647	p.Ala180Asp	rs58480900	missense variant	-	NC_000012.12:g.52519758G>T	-
KRT5	P13647	p.Ala180Asp	RCV000056614	missense variant	-	NC_000012.12:g.52519758G>T	ClinVar
KRT5	P13647	p.Ala180Pro	RCV000056613	missense variant	-	NC_000012.12:g.52519759C>G	ClinVar
KRT5	P13647	p.Ser181Pro	RCV000056615	missense variant	-	NC_000012.12:g.52519756A>G	ClinVar
KRT5	P13647	p.Ser181Pro	rs60715293	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519756A>G	UniProt,dbSNP
KRT5	P13647	p.Ser181Pro	VAR_010459	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52519756A>G	UniProt
KRT5	P13647	p.Phe182Leu	rs1348541655	missense variant	-	NC_000012.12:g.52519753A>G	gnomAD
KRT5	P13647	p.Ile183Met	RCV000056620	missense variant	-	NC_000012.12:g.52519748G>C	ClinVar
KRT5	P13647	p.Ile183Thr	RCV000056619	missense variant	-	NC_000012.12:g.52519749A>G	ClinVar
KRT5	P13647	p.Ile183Val	RCV000056616	missense variant	-	NC_000012.12:g.52519750T>C	ClinVar
KRT5	P13647	p.Ile183Phe	RCV000056617	missense variant	-	NC_000012.12:g.52519750T>A	ClinVar
KRT5	P13647	p.Ile183Phe	rs58577926	missense variant	-	NC_000012.12:g.52519750T>A	-
KRT5	P13647	p.Ile183Thr	rs267607661	missense variant	-	NC_000012.12:g.52519749A>G	-
KRT5	P13647	p.Ile183Met	rs267607443	missense variant	-	NC_000012.12:g.52519748G>C	1000Genomes,ESP,ExAC,gnomAD
KRT5	P13647	p.Ile183Val	rs58577926	missense variant	-	NC_000012.12:g.52519750T>C	-
KRT5	P13647	p.Asp184Asn	rs751505210	missense variant	-	NC_000012.12:g.52519747C>T	ExAC,gnomAD
KRT5	P13647	p.Val186Glu	RCV000056626	missense variant	-	NC_000012.12:g.52519159A>T	ClinVar
KRT5	P13647	p.Val186Glu	rs267607457	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52519159A>T	UniProt,dbSNP
KRT5	P13647	p.Val186Glu	VAR_071631	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52519159A>T	UniProt
KRT5	P13647	p.Val186Glu	rs267607457	missense variant	-	NC_000012.12:g.52519159A>T	-
KRT5	P13647	p.Val186Met	RCV000056624	missense variant	-	NC_000012.12:g.52519160C>T	ClinVar
KRT5	P13647	p.Val186Leu	rs121912475	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52519160C>A	UniProt,dbSNP
KRT5	P13647	p.Val186Leu	VAR_013829	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52519160C>A	UniProt
KRT5	P13647	p.Val186Leu	rs121912475	missense variant	-	NC_000012.12:g.52519160C>A	-
KRT5	P13647	p.Val186Met	rs121912475	missense variant	-	NC_000012.12:g.52519160C>T	-
KRT5	P13647	p.Val186Met	rs121912475	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52519160C>T	UniProt,dbSNP
KRT5	P13647	p.Val186Met	VAR_031642	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52519160C>T	UniProt
KRT5	P13647	p.Val186Leu	RCV000015758	missense variant	Epidermolysis bullosa simplex, Koebner type	NC_000012.12:g.52519160C>A	ClinVar
KRT5	P13647	p.Arg187Pro	RCV000056627	missense variant	-	NC_000012.12:g.52519156C>G	ClinVar
KRT5	P13647	p.Arg187Trp	COSM940762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52519157G>A	NCI-TCGA Cosmic
KRT5	P13647	p.Arg187Pro	rs267607452	missense variant	-	NC_000012.12:g.52519156C>G	ESP,ExAC,gnomAD
KRT5	P13647	p.Arg187Gln	rs267607452	missense variant	-	NC_000012.12:g.52519156C>T	ESP,ExAC,gnomAD
KRT5	P13647	p.Phe188Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519152G>T	NCI-TCGA
KRT5	P13647	p.Glu190Asp	RCV000056629	missense variant	-	NC_000012.12:g.52519146C>G	ClinVar
KRT5	P13647	p.Glu190Lys	RCV000056628	missense variant	-	NC_000012.12:g.52519148C>T	ClinVar
KRT5	P13647	p.Glu190Asp	rs267607437	missense variant	-	NC_000012.12:g.52519146C>G	-
KRT5	P13647	p.Glu190Lys	rs58976397	missense variant	-	NC_000012.12:g.52519148C>T	-
KRT5	P13647	p.Gln191Pro	RCV000056630	missense variant	-	NC_000012.12:g.52519144T>G	ClinVar
KRT5	P13647	p.Gln191Pro	rs57751134	missense variant	-	NC_000012.12:g.52519144T>G	-
KRT5	P13647	p.Gln191Pro	rs57751134	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52519144T>G	UniProt,dbSNP
KRT5	P13647	p.Gln191Pro	VAR_031643	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52519144T>G	UniProt
KRT5	P13647	p.Gln192Arg	rs1189534651	missense variant	-	NC_000012.12:g.52519141T>C	gnomAD
KRT5	P13647	p.Asn193Lys	RCV000056631	missense variant	-	NC_000012.12:g.52519137G>T	ClinVar
KRT5	P13647	p.Asn193Lys	RCV000056632	missense variant	-	NC_000012.12:g.52519137G>C	ClinVar
KRT5	P13647	p.Asn193Lys	rs60586163	missense variant	-	NC_000012.12:g.52519137G>C	gnomAD
KRT5	P13647	p.Asn193Ser	rs373124656	missense variant	-	NC_000012.12:g.52519138T>C	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asn193Lys	rs60586163	missense variant	-	NC_000012.12:g.52519137G>T	gnomAD
KRT5	P13647	p.Lys194Glu	rs1207891531	missense variant	-	NC_000012.12:g.52519136T>C	TOPMed,gnomAD
KRT5	P13647	p.Val195Ile	rs766733036	missense variant	-	NC_000012.12:g.52519133C>T	ExAC,gnomAD
KRT5	P13647	p.Asp197Glu	RCV000056634	missense variant	-	NC_000012.12:g.52519125G>T	ClinVar
KRT5	P13647	p.Asp197Glu	rs641615	missense variant	-	NC_000012.12:g.52519125G>C	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asp197Asn	rs761944980	missense variant	-	NC_000012.12:g.52519127C>T	ExAC,gnomAD
KRT5	P13647	p.Asp197Glu	rs641615	missense variant	-	NC_000012.12:g.52519125G>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asp197Gly	rs774595910	missense variant	-	NC_000012.12:g.52519126T>C	ExAC,gnomAD
KRT5	P13647	p.Thr198Ser	RCV000056635	missense variant	-	NC_000012.12:g.52519123G>C	ClinVar
KRT5	P13647	p.Thr198Ser	rs267607435	missense variant	-	NC_000012.12:g.52519123G>C	-
KRT5	P13647	p.Lys199Arg	RCV000056639	missense variant	-	NC_000012.12:g.52519120T>C	ClinVar
KRT5	P13647	p.Lys199Arg	rs58766676	missense variant	-	NC_000012.12:g.52519120T>C	-
KRT5	P13647	p.Lys199Met	RCV000056640	missense variant	-	NC_000012.12:g.52519120T>A	ClinVar
KRT5	P13647	p.Lys199Thr	RCV000056638	missense variant	-	NC_000012.12:g.52519120T>G	ClinVar
KRT5	P13647	p.Lys199Met	rs58766676	missense variant	-	NC_000012.12:g.52519120T>A	-
KRT5	P13647	p.Lys199Thr	rs58766676	missense variant	-	NC_000012.12:g.52519120T>G	-
KRT5	P13647	p.Trp200Cys	rs1319408791	missense variant	-	NC_000012.12:g.52519116C>A	gnomAD
KRT5	P13647	p.Leu202Pro	rs770749113	missense variant	-	NC_000012.12:g.52519111A>G	ExAC,gnomAD
KRT5	P13647	p.Leu202Arg	rs770749113	missense variant	-	NC_000012.12:g.52519111A>C	ExAC,gnomAD
KRT5	P13647	p.Glu205Lys	rs746791048	missense variant	-	NC_000012.12:g.52519103C>T	ExAC,gnomAD
KRT5	P13647	p.Gly207Asp	rs1400188232	missense variant	-	NC_000012.12:g.52519096C>T	TOPMed
KRT5	P13647	p.Thr208Ile	rs1377553555	missense variant	-	NC_000012.12:g.52519093G>A	gnomAD
KRT5	P13647	p.Lys209Asn	rs376720840	missense variant	-	NC_000012.12:g.52519089C>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Val211Leu	rs147498164	missense variant	-	NC_000012.12:g.52519085C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Val211Met	rs147498164	missense variant	-	NC_000012.12:g.52519085C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Val211Met	RCV000224924	missense variant	-	NC_000012.12:g.52519085C>T	ClinVar
KRT5	P13647	p.Val211Met	RCV000326575	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52519085C>T	ClinVar
KRT5	P13647	p.Arg212Thr	rs1395946883	missense variant	-	NC_000012.12:g.52519081C>G	gnomAD
KRT5	P13647	p.Leu215Met	rs144845827	missense variant	-	NC_000012.12:g.52519073G>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu216Ter	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519070C>A	NCI-TCGA
KRT5	P13647	p.Glu216Val	COSM4042869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52519069T>A	NCI-TCGA Cosmic
KRT5	P13647	p.Pro217Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519066G>T	NCI-TCGA
KRT5	P13647	p.Pro217Ser	COSM4042868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52519067G>A	NCI-TCGA Cosmic
KRT5	P13647	p.Pro217Leu	rs569890901	missense variant	-	NC_000012.12:g.52519066G>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Leu218Ser	rs766003980	missense variant	-	NC_000012.12:g.52519063A>G	ExAC,gnomAD
KRT5	P13647	p.Leu218Phe	rs756435108	missense variant	-	NC_000012.12:g.52519062C>A	ExAC,gnomAD
KRT5	P13647	p.Glu220Lys	rs768019473	missense variant	-	NC_000012.12:g.52519058C>T	ExAC,gnomAD
KRT5	P13647	p.Gln221Ter	rs1347917615	stop gained	-	NC_000012.12:g.52519055G>A	gnomAD
KRT5	P13647	p.Gln221Leu	rs762388603	missense variant	-	NC_000012.12:g.52519054T>A	ExAC,gnomAD
KRT5	P13647	p.Gln221Arg	rs762388603	missense variant	-	NC_000012.12:g.52519054T>C	ExAC,gnomAD
KRT5	P13647	p.Ile223Val	rs1261360013	missense variant	-	NC_000012.12:g.52519049T>C	TOPMed
KRT5	P13647	p.Asn225Lys	rs764268730	missense variant	-	NC_000012.12:g.52519041G>C	ExAC,gnomAD
KRT5	P13647	p.Leu226Ile	rs1298273476	missense variant	-	NC_000012.12:g.52519040G>T	gnomAD
KRT5	P13647	p.Arg227Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52519036C>T	NCI-TCGA
KRT5	P13647	p.Arg228Lys	rs1301554451	missense variant	-	NC_000012.12:g.52519033C>T	gnomAD
KRT5	P13647	p.Leu230Gln	COSM6072981	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52519027A>T	NCI-TCGA Cosmic
KRT5	P13647	p.Ser232Gly	rs1436696087	missense variant	-	NC_000012.12:g.52519022T>C	TOPMed,gnomAD
KRT5	P13647	p.Ser232Asn	rs200333163	missense variant	-	NC_000012.12:g.52519021C>T	ExAC,gnomAD
KRT5	P13647	p.Ile233Met	rs746776082	missense variant	-	NC_000012.12:g.52519017G>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Val234Met	rs201553621	missense variant	-	NC_000012.12:g.52519016C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly235Ala	rs754470005	missense variant	-	NC_000012.12:g.52519012C>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly235Arg	rs1307449189	missense variant	-	NC_000012.12:g.52519013C>T	gnomAD
KRT5	P13647	p.Glu236Lys	rs139036685	missense variant	-	NC_000012.12:g.52519010C>T	ESP,ExAC,gnomAD
KRT5	P13647	p.Arg237Gln	rs978927000	missense variant	-	NC_000012.12:g.52519006C>T	TOPMed,gnomAD
KRT5	P13647	p.Arg237Trp	rs537370039	missense variant	-	NC_000012.12:g.52519007G>A	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Arg237Gly	rs537370039	missense variant	-	NC_000012.12:g.52519007G>C	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Gly238Val	rs570531194	missense variant	-	NC_000012.12:g.52519003C>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly238Asp	rs570531194	missense variant	-	NC_000012.12:g.52519003C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly238Ser	rs1273357519	missense variant	-	NC_000012.12:g.52519004C>T	TOPMed,gnomAD
KRT5	P13647	p.Arg239His	rs752102397	missense variant	-	NC_000012.12:g.52519000C>T	ExAC,gnomAD
KRT5	P13647	p.Arg239Cys	rs757766724	missense variant	-	NC_000012.12:g.52519001G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Leu240Pro	rs142744029	missense variant	-	NC_000012.12:g.52518997A>G	ESP,ExAC,TOPMed
KRT5	P13647	p.Asp241His	COSM6137372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52518995C>G	NCI-TCGA Cosmic
KRT5	P13647	p.Asn246Asp	rs765446846	missense variant	-	NC_000012.12:g.52518980T>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asn246Ser	rs759651620	missense variant	-	NC_000012.12:g.52518979T>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Met247Ile	rs1417219262	missense variant	-	NC_000012.12:g.52518975C>T	gnomAD
KRT5	P13647	p.Leu250Pro	rs1406802547	missense variant	-	NC_000012.12:g.52518967A>G	TOPMed,gnomAD
KRT5	P13647	p.Val251Met	rs1307574245	missense variant	-	NC_000012.12:g.52518965C>T	gnomAD
KRT5	P13647	p.Asp253Ala	rs1377668104	missense variant	-	NC_000012.12:g.52518958T>G	TOPMed
KRT5	P13647	p.Lys257Met	COSM6137373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52518946T>A	NCI-TCGA Cosmic
KRT5	P13647	p.Tyr258ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52518162_52518163insCTTGTTCTTGAAGTCTTCCACCAGGT	NCI-TCGA
KRT5	P13647	p.Glu261Lys	rs267603519	missense variant	-	NC_000012.12:g.52518153C>T	-
KRT5	P13647	p.Asn263Asp	rs1290275972	missense variant	-	NC_000012.12:g.52518147T>C	TOPMed
KRT5	P13647	p.Arg265Pro	RCV000056644	missense variant	-	NC_000012.12:g.52518140C>G	ClinVar
KRT5	P13647	p.Arg265Cys	rs769176692	missense variant	-	NC_000012.12:g.52518141G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg265Pro	rs201583229	missense variant	-	NC_000012.12:g.52518140C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg265His	rs201583229	missense variant	-	NC_000012.12:g.52518140C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Thr266Ile	rs780929128	missense variant	-	NC_000012.12:g.52518137G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala268Thr	rs1478184608	missense variant	-	NC_000012.12:g.52518132C>T	TOPMed
KRT5	P13647	p.Glu269Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52518127C>G	NCI-TCGA
KRT5	P13647	p.Glu269Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52518129C>G	NCI-TCGA
KRT5	P13647	p.Asn270Tyr	rs770735188	missense variant	-	NC_000012.12:g.52518126T>A	ExAC,gnomAD
KRT5	P13647	p.Phe272Ter	RCV000761247	nonsense	Epidermolysis bullosa simplex	NC_000012.12:g.52518117del	ClinVar
KRT5	P13647	p.Val273CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52518117_52518118insA	NCI-TCGA
KRT5	P13647	p.Met274Thr	rs747325105	missense variant	-	NC_000012.12:g.52518113A>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Met274Leu	rs1387934183	missense variant	-	NC_000012.12:g.52518114T>G	gnomAD
KRT5	P13647	p.Leu275Pro	rs553755257	missense variant	-	NC_000012.12:g.52518110A>G	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Lys276GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52518109_52518110insA	NCI-TCGA
KRT5	P13647	p.Asp278Asn	rs756254239	missense variant	-	NC_000012.12:g.52517992C>T	ExAC,gnomAD
KRT5	P13647	p.Met284Val	rs1057500590	missense variant	-	NC_000012.12:g.52517974T>C	TOPMed,gnomAD
KRT5	P13647	p.Val287Met	rs750633567	missense variant	-	NC_000012.12:g.52517965C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu290Gln	rs1287965324	missense variant	-	NC_000012.12:g.52517956C>G	TOPMed
KRT5	P13647	p.Glu290Asp	rs1336931805	missense variant	-	NC_000012.12:g.52517954C>G	gnomAD
KRT5	P13647	p.Val293Ala	rs758065668	missense variant	-	NC_000012.12:g.52517946A>G	ExAC,gnomAD
KRT5	P13647	p.Val293Ile	rs886049625	missense variant	-	NC_000012.12:g.52517947C>T	TOPMed
KRT5	P13647	p.Val293Ile	RCV000274907	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52517947C>T	ClinVar
KRT5	P13647	p.Asp294Gly	rs1370579888	missense variant	-	NC_000012.12:g.52517943T>C	gnomAD
KRT5	P13647	p.Asp294Glu	rs765031976	missense variant	-	NC_000012.12:g.52517942A>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu299Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517929C>T	NCI-TCGA
KRT5	P13647	p.Ile300Met	rs776747513	missense variant	-	NC_000012.12:g.52517924A>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asn301LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52517921_52517922insT	NCI-TCGA
KRT5	P13647	p.Asn301Lys	rs1460187467	missense variant	-	NC_000012.12:g.52517921G>T	gnomAD
KRT5	P13647	p.Asn301Ile	rs1325728628	missense variant	-	NC_000012.12:g.52517922T>A	TOPMed,gnomAD
KRT5	P13647	p.Phe302Ser	rs1420710438	missense variant	-	NC_000012.12:g.52517919A>G	gnomAD
KRT5	P13647	p.Met303Leu	rs199854656	missense variant	-	NC_000012.12:g.52517917T>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Met305Leu	rs1484270830	missense variant	-	NC_000012.12:g.52517911T>A	TOPMed
KRT5	P13647	p.Phe306Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517906G>T	NCI-TCGA
KRT5	P13647	p.Phe307Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517904A>T	NCI-TCGA
KRT5	P13647	p.Asp308Gly	rs757982689	missense variant	-	NC_000012.12:g.52517901T>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala309Glu	rs552561992	missense variant	-	NC_000012.12:g.52517898G>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala309Val	rs552561992	missense variant	-	NC_000012.12:g.52517898G>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu310Gln	rs1253409127	missense variant	-	NC_000012.12:g.52517754C>G	gnomAD
KRT5	P13647	p.Leu311Val	rs1434489708	missense variant	-	NC_000012.12:g.52517751G>C	TOPMed
KRT5	P13647	p.Leu311Arg	rs59864957	missense variant	-	NC_000012.12:g.52517750A>C	ExAC,gnomAD
KRT5	P13647	p.Leu311Arg	RCV000056645	missense variant	-	NC_000012.12:g.52517750A>C	ClinVar
KRT5	P13647	p.Leu311Pro	rs59864957	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52517750A>G	UniProt,dbSNP
KRT5	P13647	p.Leu311Pro	VAR_026540	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52517750A>G	UniProt
KRT5	P13647	p.Leu311Pro	rs59864957	missense variant	-	NC_000012.12:g.52517750A>G	ExAC,gnomAD
KRT5	P13647	p.Ser312Tyr	rs1262405903	missense variant	-	NC_000012.12:g.52517747G>T	gnomAD
KRT5	P13647	p.Ser312Ala	rs1484890470	missense variant	-	NC_000012.12:g.52517748A>C	gnomAD
KRT5	P13647	p.Gln315Ter	COSM940760	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.52517739G>A	NCI-TCGA Cosmic
KRT5	P13647	p.Thr316Met	rs369447745	missense variant	-	NC_000012.12:g.52517735G>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.His317Asn	rs1340897979	missense variant	-	NC_000012.12:g.52517733G>T	TOPMed
KRT5	P13647	p.His317Arg	rs541927296	missense variant	-	NC_000012.12:g.52517732T>C	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.His317Tyr	rs1340897979	missense variant	-	NC_000012.12:g.52517733G>A	TOPMed
KRT5	P13647	p.Asp320Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517723T>C	NCI-TCGA
KRT5	P13647	p.Thr321Ile	rs769053414	missense variant	-	NC_000012.12:g.52517720G>A	ExAC,gnomAD
KRT5	P13647	p.Thr321Pro	VAR_071632	Missense	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]	-	UniProt
KRT5	P13647	p.Val323Ala	RCV000056646	missense variant	-	NC_000012.12:g.52517714A>G	ClinVar
KRT5	P13647	p.Val323Ala	rs59840738	missense variant	-	NC_000012.12:g.52517714A>G	-
KRT5	P13647	p.Val323Ala	rs59840738	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52517714A>G	UniProt,dbSNP
KRT5	P13647	p.Val323Ala	VAR_010460	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52517714A>G	UniProt
KRT5	P13647	p.Val324Ala	RCV000056648	missense variant	-	NC_000012.12:g.52517711A>G	ClinVar
KRT5	P13647	p.Val324Ala	rs59335325	missense variant	-	NC_000012.12:g.52517711A>G	-
KRT5	P13647	p.Val324Phe	rs1401028269	missense variant	-	NC_000012.12:g.52517712C>A	TOPMed
KRT5	P13647	p.Val324Asp	RCV000056647	missense variant	-	NC_000012.12:g.52517711A>T	ClinVar
KRT5	P13647	p.Val324Asp	rs59335325	missense variant	-	NC_000012.12:g.52517711A>T	-
KRT5	P13647	p.Leu325Pro	RCV000056649	missense variant	-	NC_000012.12:g.52517708A>G	ClinVar
KRT5	P13647	p.Leu325Pro	rs58107458	missense variant	-	NC_000012.12:g.52517708A>G	-
KRT5	P13647	p.Met327Lys	RCV000056650	missense variant	-	NC_000012.12:g.52517702A>T	ClinVar
KRT5	P13647	p.Met327Thr	RCV000762900	missense variant	Epidermolysis bullosa simplex, Cockayne-Touraine type	NC_000012.12:g.52517702A>G	ClinVar
KRT5	P13647	p.Met327Thr	RCV000056651	missense variant	-	NC_000012.12:g.52517702A>G	ClinVar
KRT5	P13647	p.Met327Thr	RCV000015747	missense variant	Epidermolysis bullosa simplex, Cockayne-Touraine type	NC_000012.12:g.52517702A>G	ClinVar
KRT5	P13647	p.Asp328His	rs56790237	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52517700C>G	UniProt,dbSNP
KRT5	P13647	p.Asp328His	VAR_010463	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52517700C>G	UniProt
KRT5	P13647	p.Asp328His	rs56790237	missense variant	-	NC_000012.12:g.52517700C>G	-
KRT5	P13647	p.Asp328Gly	RCV000056653	missense variant	-	NC_000012.12:g.52517699T>C	ClinVar
KRT5	P13647	p.Asp328Glu	RCV000056655	missense variant	-	NC_000012.12:g.52517698G>T	ClinVar
KRT5	P13647	p.Asp328Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517700C>T	NCI-TCGA
KRT5	P13647	p.Asp328His	RCV000056652	missense variant	-	NC_000012.12:g.52517700C>G	ClinVar
KRT5	P13647	p.Asp328Val	RCV000056654	missense variant	-	NC_000012.12:g.52517699T>A	ClinVar
KRT5	P13647	p.Asp328Val	rs57142010	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52517699T>A	UniProt,dbSNP
KRT5	P13647	p.Asp328Val	VAR_010464	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52517699T>A	UniProt
KRT5	P13647	p.Asp328Val	rs57142010	missense variant	-	NC_000012.12:g.52517699T>A	-
KRT5	P13647	p.Asp328Glu	rs59464425	missense variant	-	NC_000012.12:g.52517698G>T	TOPMed,gnomAD
KRT5	P13647	p.Asp328Gly	rs57142010	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52517699T>C	UniProt,dbSNP
KRT5	P13647	p.Asp328Gly	VAR_026543	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52517699T>C	UniProt
KRT5	P13647	p.Asp328Gly	rs57142010	missense variant	-	NC_000012.12:g.52517699T>C	-
KRT5	P13647	p.Asn329Ser	RCV000056656	missense variant	-	NC_000012.12:g.52517696T>C	ClinVar
KRT5	P13647	p.Asn329Lys	rs59730172	missense variant	-	NC_000012.12:g.52517695G>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asn329Ser	rs59184265	missense variant	-	NC_000012.12:g.52517696T>C	-
KRT5	P13647	p.Asn329Lys	RCV000015748	missense variant	Epidermolysis bullosa simplex, Cockayne-Touraine type	NC_000012.12:g.52517695G>T	ClinVar
KRT5	P13647	p.Asn330Lys	rs1369493697	missense variant	-	NC_000012.12:g.52517692G>T	TOPMed
KRT5	P13647	p.Asn330Ser	rs745902310	missense variant	-	NC_000012.12:g.52517693T>C	ExAC,gnomAD
KRT5	P13647	p.Arg331Ser	RCV000056658	missense variant	-	NC_000012.12:g.52517691G>T	ClinVar
KRT5	P13647	p.Arg331Cys	RCV000503703	missense variant	Epidermolysis bullosa simplex, Cockayne-Touraine type	NC_000012.12:g.52517691G>A	ClinVar
KRT5	P13647	p.Arg331His	RCV000056661	missense variant	-	NC_000012.12:g.52517690C>T	ClinVar
KRT5	P13647	p.Arg331Gly	RCV000056659	missense variant	-	NC_000012.12:g.52517691G>C	ClinVar
KRT5	P13647	p.Arg331His	rs56729325	missense variant	-	NC_000012.12:g.52517690C>T	TOPMed
KRT5	P13647	p.Arg331Cys	rs61297109	missense variant	-	NC_000012.12:g.52517691G>A	TOPMed,gnomAD
KRT5	P13647	p.Arg331Gly	rs61297109	missense variant	-	NC_000012.12:g.52517691G>C	TOPMed,gnomAD
KRT5	P13647	p.Arg331Ser	rs61297109	missense variant	-	NC_000012.12:g.52517691G>T	TOPMed,gnomAD
KRT5	P13647	p.Asn332Ser	rs781305886	missense variant	-	NC_000012.12:g.52517687T>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asp334Tyr	rs770952740	missense variant	-	NC_000012.12:g.52517682C>A	ExAC,gnomAD
KRT5	P13647	p.Asp334Glu	rs777912551	missense variant	-	NC_000012.12:g.52517680G>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asp336Asn	rs373891687	missense variant	-	NC_000012.12:g.52517676C>T	ESP,ExAC,gnomAD
KRT5	P13647	p.Ala340Ser	COSM6137374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52517664C>A	NCI-TCGA Cosmic
KRT5	P13647	p.Ala340Thr	rs780099328	missense variant	-	NC_000012.12:g.52517664C>T	ExAC,gnomAD
KRT5	P13647	p.Ala340Val	rs754348635	missense variant	-	NC_000012.12:g.52517663G>A	-
KRT5	P13647	p.Lys343Asn	COSM940759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52517653C>A	NCI-TCGA Cosmic
KRT5	P13647	p.Ala344Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517651G>T	NCI-TCGA
KRT5	P13647	p.Ala344Thr	rs1307364510	missense variant	-	NC_000012.12:g.52517652C>T	TOPMed
KRT5	P13647	p.Gln345His	rs200832687	missense variant	-	NC_000012.12:g.52517647C>G	1000Genomes
KRT5	P13647	p.Tyr346Asn	rs1203058933	missense variant	-	NC_000012.12:g.52517646A>T	TOPMed
KRT5	P13647	p.Ala350Val	rs750367973	missense variant	-	NC_000012.12:g.52517633G>A	ExAC,gnomAD
KRT5	P13647	p.Asn351His	rs1395973356	missense variant	-	NC_000012.12:g.52517631T>G	gnomAD
KRT5	P13647	p.Arg352Leu	rs766857995	missense variant	-	NC_000012.12:g.52517627C>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg352His	rs766857995	missense variant	-	NC_000012.12:g.52517627C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg352Ser	rs59112594	missense variant	-	NC_000012.12:g.52517628G>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg352Ser	RCV000056541	missense variant	-	NC_000012.12:g.52517628G>T	ClinVar
KRT5	P13647	p.Arg352Cys	rs59112594	missense variant	-	NC_000012.12:g.52517628G>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser353Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517624C>A	NCI-TCGA
KRT5	P13647	p.Arg354Gln	rs148049379	missense variant	-	NC_000012.12:g.52517621C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg354Trp	rs143630653	missense variant	-	NC_000012.12:g.52517622G>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu356Lys	rs1195131320	missense variant	-	NC_000012.12:g.52517616C>T	TOPMed
KRT5	P13647	p.Glu358Lys	rs534833753	missense variant	-	NC_000012.12:g.52517610C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Trp360Ter	rs771026976	stop gained	-	NC_000012.12:g.52517602C>T	ExAC,gnomAD
KRT5	P13647	p.Gln362Pro	rs1168285971	missense variant	-	NC_000012.12:g.52517597T>G	TOPMed
KRT5	P13647	p.Gln362His	rs747069497	missense variant	-	NC_000012.12:g.52517596C>A	ExAC,gnomAD
KRT5	P13647	p.Thr363Ile	rs1351383433	missense variant	-	NC_000012.12:g.52517594G>A	TOPMed
KRT5	P13647	p.Tyr365His	rs760767549	missense variant	-	NC_000012.12:g.52517232A>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu367Lys	rs1461921471	missense variant	-	NC_000012.12:g.52517226C>T	TOPMed,gnomAD
KRT5	P13647	p.Glu367Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517226C>G	NCI-TCGA
KRT5	P13647	p.Gln369Ter	rs138697843	stop gained	-	NC_000012.12:g.52517220G>A	ESP,ExAC,gnomAD
KRT5	P13647	p.Gln369Lys	rs138697843	missense variant	-	NC_000012.12:g.52517220G>T	ESP,ExAC,gnomAD
KRT5	P13647	p.Gln370Ter	COSM1362512	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.52517217G>A	NCI-TCGA Cosmic
KRT5	P13647	p.Thr371Ile	rs1006432596	missense variant	-	NC_000012.12:g.52517213G>A	TOPMed,gnomAD
KRT5	P13647	p.Ala372Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517211C>A	NCI-TCGA
KRT5	P13647	p.Gly373Ala	RCV000396205	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52517207C>G	ClinVar
KRT5	P13647	p.Gly373Ala	rs561738497	missense variant	-	NC_000012.12:g.52517207C>G	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg374Leu	rs200072843	missense variant	-	NC_000012.12:g.52517204C>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg374Gln	rs200072843	missense variant	-	NC_000012.12:g.52517204C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg374Trp	rs758181003	missense variant	-	NC_000012.12:g.52517205G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.His375Tyr	rs1236961587	missense variant	-	NC_000012.12:g.52517202G>A	gnomAD
KRT5	P13647	p.His375Arg	rs757166763	missense variant	-	NC_000012.12:g.52517201T>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asp377Asn	rs777237775	missense variant	-	NC_000012.12:g.52517196C>T	ExAC,gnomAD
KRT5	P13647	p.Leu379Phe	rs757966253	missense variant	-	NC_000012.12:g.52517190G>A	ExAC,gnomAD
KRT5	P13647	p.Arg380Cys	rs752329142	missense variant	-	NC_000012.12:g.52517187G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg380His	rs764879342	missense variant	-	NC_000012.12:g.52517186C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asn381Ser	rs755300932	missense variant	-	NC_000012.12:g.52517183T>C	ExAC,gnomAD
KRT5	P13647	p.Thr382Ala	rs1167883150	missense variant	-	NC_000012.12:g.52517181T>C	TOPMed
KRT5	P13647	p.Lys383Thr	rs1156362973	missense variant	-	NC_000012.12:g.52517177T>G	gnomAD
KRT5	P13647	p.His384Arg	rs1470865283	missense variant	-	NC_000012.12:g.52517174T>C	TOPMed,gnomAD
KRT5	P13647	p.Glu385LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52517168_52517172ATCTC>-	NCI-TCGA
KRT5	P13647	p.Glu385Lys	COSM2010757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52517172C>T	NCI-TCGA Cosmic
KRT5	P13647	p.Ile386Val	rs1364056877	missense variant	-	NC_000012.12:g.52517169T>C	gnomAD
KRT5	P13647	p.Ser387Thr	rs2669875	missense variant	-	NC_000012.12:g.52517166A>T	-
KRT5	P13647	p.Ser387Thr	rs2669875	missense variant	-	NC_000012.12:g.52517166A>T	UniProt,dbSNP
KRT5	P13647	p.Ser387Thr	VAR_028766	missense variant	-	NC_000012.12:g.52517166A>T	UniProt
KRT5	P13647	p.Ser387Thr	RCV000056544	missense variant	-	NC_000012.12:g.52517166A>T	ClinVar
KRT5	P13647	p.Glu388Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517161C>G	NCI-TCGA
KRT5	P13647	p.Met389Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517158C>G	NCI-TCGA
KRT5	P13647	p.Met389Val	rs766859647	missense variant	-	NC_000012.12:g.52517160T>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asn390Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517157T>C	NCI-TCGA
KRT5	P13647	p.Arg391Trp	rs761063555	missense variant	-	NC_000012.12:g.52517154G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg391Gln	rs747792410	missense variant	-	NC_000012.12:g.52517153C>T	ExAC,gnomAD
KRT5	P13647	p.Met392Ile	rs767692987	missense variant	-	NC_000012.12:g.52517149C>T	ExAC,gnomAD
KRT5	P13647	p.Met392Val	rs1403972059	missense variant	-	NC_000012.12:g.52517151T>C	TOPMed
KRT5	P13647	p.Arg395Ser	rs761999937	missense variant	-	NC_000012.12:g.52517140C>G	ExAC,gnomAD
KRT5	P13647	p.Leu396Gln	rs1203514715	missense variant	-	NC_000012.12:g.52517138A>T	gnomAD
KRT5	P13647	p.Glu399Lys	rs141279000	missense variant	-	NC_000012.12:g.52517130C>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ile400Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52517127T>A	NCI-TCGA
KRT5	P13647	p.Ile400Thr	rs979317659	missense variant	-	NC_000012.12:g.52517126A>G	TOPMed,gnomAD
KRT5	P13647	p.Asn402His	rs776272199	missense variant	-	NC_000012.12:g.52517121T>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Lys404Arg	rs1292246354	missense variant	-	NC_000012.12:g.52517114T>C	TOPMed
KRT5	P13647	p.Lys404Glu	rs60809982	missense variant	-	NC_000012.12:g.52517115T>C	-
KRT5	P13647	p.Lys404Glu	RCV000056545	missense variant	-	NC_000012.12:g.52517115T>C	ClinVar
KRT5	P13647	p.Lys405Arg	rs746940114	missense variant	-	NC_000012.12:g.52517111T>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gln406Lys	rs778602599	missense variant	-	NC_000012.12:g.52517109G>T	TOPMed,gnomAD
KRT5	P13647	p.Cys407Arg	rs778262903	missense variant	-	NC_000012.12:g.52516857A>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala408Thr	rs748888461	missense variant	-	NC_000012.12:g.52516854C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asn409Tyr	rs1292567518	missense variant	-	NC_000012.12:g.52516851T>A	gnomAD
KRT5	P13647	p.Asn409Thr	rs779770273	missense variant	-	NC_000012.12:g.52516850T>G	ExAC,gnomAD
KRT5	P13647	p.Gln411Arg	rs200597314	missense variant	-	NC_000012.12:g.52516844T>C	ExAC,gnomAD
KRT5	P13647	p.Asn412Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52516842T>C	NCI-TCGA
KRT5	P13647	p.Asn412Ser	rs1441032229	missense variant	-	NC_000012.12:g.52516841T>C	TOPMed,gnomAD
KRT5	P13647	p.Asn412Lys	rs144359915	missense variant	-	NC_000012.12:g.52516840G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala413Thr	rs757819698	missense variant	-	NC_000012.12:g.52516839C>T	ExAC,gnomAD
KRT5	P13647	p.Ala413Ser	rs757819698	missense variant	-	NC_000012.12:g.52516839C>A	ExAC,gnomAD
KRT5	P13647	p.Ala413Val	rs1467489260	missense variant	-	NC_000012.12:g.52516838G>A	gnomAD
KRT5	P13647	p.Ala415Thr	rs752155719	missense variant	-	NC_000012.12:g.52516833C>T	ExAC,gnomAD
KRT5	P13647	p.Asp416Glu	rs1470701148	missense variant	-	NC_000012.12:g.52516828A>T	TOPMed
KRT5	P13647	p.Asp416GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52516828_52516829insATCTTCTTGACAC	NCI-TCGA
KRT5	P13647	p.Ala417Asp	rs763147225	missense variant	-	NC_000012.12:g.52516826G>T	ExAC,gnomAD
KRT5	P13647	p.Glu418Asp	rs760420480	missense variant	-	NC_000012.12:g.52516822C>G	ExAC,gnomAD
KRT5	P13647	p.Glu418Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52516823T>A	NCI-TCGA
KRT5	P13647	p.Glu418Lys	RCV000056546	missense variant	-	NC_000012.12:g.52516824C>T	ClinVar
KRT5	P13647	p.Glu418Lys	rs121912476	missense variant	-	NC_000012.12:g.52516824C>T	ExAC,gnomAD
KRT5	P13647	p.Glu418Lys	rs121912476	missense variant	Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)	NC_000012.12:g.52516824C>T	UniProt,dbSNP
KRT5	P13647	p.Glu418Lys	VAR_026544	missense variant	Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)	NC_000012.12:g.52516824C>T	UniProt
KRT5	P13647	p.Arg420Cys	rs374228362	missense variant	-	NC_000012.12:g.52516818G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg420His	rs140660135	missense variant	-	NC_000012.12:g.52516817C>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly421Ala	rs761706455	missense variant	-	NC_000012.12:g.52516814C>G	ExAC,gnomAD
KRT5	P13647	p.Glu422Lys	COSM4894756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52516812C>T	NCI-TCGA Cosmic
KRT5	P13647	p.Glu422Ala	rs767993231	missense variant	-	NC_000012.12:g.52516811T>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu422Gly	rs767993231	missense variant	-	NC_000012.12:g.52516811T>C	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala424Pro	rs748836260	missense variant	-	NC_000012.12:g.52516806C>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala424Thr	rs748836260	missense variant	-	NC_000012.12:g.52516806C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala424Val	rs1312895916	missense variant	-	NC_000012.12:g.52516805G>A	TOPMed,gnomAD
KRT5	P13647	p.Ala424Gly	rs1312895916	missense variant	-	NC_000012.12:g.52516805G>C	TOPMed,gnomAD
KRT5	P13647	p.Leu425Phe	rs779531180	missense variant	-	NC_000012.12:g.52516803G>A	ExAC,gnomAD
KRT5	P13647	p.Ala428Thr	RCV000056547	missense variant	-	NC_000012.12:g.52516794C>T	ClinVar
KRT5	P13647	p.Ala428Thr	rs267607458	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52516794C>T	UniProt,dbSNP
KRT5	P13647	p.Ala428Thr	VAR_071633	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52516794C>T	UniProt
KRT5	P13647	p.Ala428Thr	rs267607458	missense variant	-	NC_000012.12:g.52516794C>T	gnomAD
KRT5	P13647	p.Ala428Val	RCV000056548	missense variant	-	NC_000012.12:g.52516793G>A	ClinVar
KRT5	P13647	p.Ala428Val	rs59243757	missense variant	-	NC_000012.12:g.52516793G>A	-
KRT5	P13647	p.Arg429Lys	rs985057511	missense variant	-	NC_000012.12:g.52516790C>T	gnomAD
KRT5	P13647	p.Arg429Ser	rs1303632263	missense variant	-	NC_000012.12:g.52516789C>A	TOPMed,gnomAD
KRT5	P13647	p.Asn430Lys	rs371739329	missense variant	-	NC_000012.12:g.52516786G>C	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Asn430Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52516786G>T	NCI-TCGA
KRT5	P13647	p.Lys431Arg	rs1401509310	missense variant	-	NC_000012.12:g.52516784T>C	gnomAD
KRT5	P13647	p.Ala433Asp	rs577244472	missense variant	-	NC_000012.12:g.52516778G>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu434Ter	COSM4925539	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.52516776C>A	NCI-TCGA Cosmic
KRT5	P13647	p.Glu434Lys	rs757760193	missense variant	-	NC_000012.12:g.52516776C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu434Val	rs751992720	missense variant	-	NC_000012.12:g.52516775T>A	ExAC,gnomAD
KRT5	P13647	p.Glu436Asp	rs374535811	missense variant	-	NC_000012.12:g.52516768C>G	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu436Gly	rs1405839596	missense variant	-	NC_000012.12:g.52516769T>C	gnomAD
KRT5	P13647	p.Glu437Gly	rs752855887	missense variant	-	NC_000012.12:g.52516766T>C	ExAC,gnomAD
KRT5	P13647	p.Ala438Asp	rs57845028	missense variant	-	NC_000012.12:g.52516763G>T	-
KRT5	P13647	p.Ala438Asp	rs57845028	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52516763G>T	UniProt,dbSNP
KRT5	P13647	p.Ala438Asp	VAR_023727	missense variant	Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)	NC_000012.12:g.52516763G>T	UniProt
KRT5	P13647	p.Ala438Asp	RCV000056550	missense variant	-	NC_000012.12:g.52516763G>T	ClinVar
KRT5	P13647	p.Ala438Pro	rs1191511841	missense variant	-	NC_000012.12:g.52516764C>G	gnomAD
KRT5	P13647	p.Gln440LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52516759_52516760insTTTGAATCAATTTCTTAGTCAAATGATCATATAAA	NCI-TCGA
KRT5	P13647	p.Lys443Asn	RCV000056551	missense variant	-	NC_000012.12:g.52516747C>G	ClinVar
KRT5	P13647	p.Lys443Arg	rs1480537061	missense variant	-	NC_000012.12:g.52516748T>C	TOPMed
KRT5	P13647	p.Lys443Asn	rs267607453	missense variant	-	NC_000012.12:g.52516747C>G	-
KRT5	P13647	p.Met446Leu	rs754100299	missense variant	-	NC_000012.12:g.52516740T>G	ExAC,gnomAD
KRT5	P13647	p.Ala447Val	rs1194858931	missense variant	-	NC_000012.12:g.52516736G>A	TOPMed
KRT5	P13647	p.Arg448Leu	rs761655080	missense variant	-	NC_000012.12:g.52516733C>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg448Gln	rs761655080	missense variant	-	NC_000012.12:g.52516733C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg448Trp	rs767296169	missense variant	-	NC_000012.12:g.52516734G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Leu449His	NCI-TCGA novel	insertion	-	NC_000012.12:g.52516727_52516728insAAT	NCI-TCGA
KRT5	P13647	p.Leu450ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52516728_52516729insTACTTTTCCATGTTTTTCTTTGAATTGT	NCI-TCGA
KRT5	P13647	p.Arg451Cys	rs370060795	missense variant	-	NC_000012.12:g.52516725G>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg451His	RCV000519165	missense variant	-	NC_000012.12:g.52516724C>T	ClinVar
KRT5	P13647	p.Arg451Ser	rs370060795	missense variant	-	NC_000012.12:g.52516725G>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg451Pro	rs200563006	missense variant	-	NC_000012.12:g.52516724C>G	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg451His	rs200563006	missense variant	-	NC_000012.12:g.52516724C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu452ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52516721_52516722insCA	NCI-TCGA
KRT5	P13647	p.Glu452Val	rs1439138800	missense variant	-	NC_000012.12:g.52516721T>A	gnomAD
KRT5	P13647	p.Gln454Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52516716G>T	NCI-TCGA
KRT5	P13647	p.Glu455Lys	rs1294665232	missense variant	-	NC_000012.12:g.52516713C>T	gnomAD
KRT5	P13647	p.Glu455Ter	RCV000760721	nonsense	-	NC_000012.12:g.52516713C>A	ClinVar
KRT5	P13647	p.Glu455Asp	rs1271144622	missense variant	-	NC_000012.12:g.52516711C>A	TOPMed,gnomAD
KRT5	P13647	p.Glu455Ter	RCV000056552	frameshift	-	NC_000012.12:g.52516711_52516714delinsTACCAGCT	ClinVar
KRT5	P13647	p.Met457Leu	rs745507253	missense variant	-	NC_000012.12:g.52516707T>G	ExAC,gnomAD
KRT5	P13647	p.Thr459Ala	rs1343526933	missense variant	-	NC_000012.12:g.52516701T>C	gnomAD
KRT5	P13647	p.Ala462Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52516691G>A	NCI-TCGA
KRT5	P13647	p.Leu463Pro	RCV000015745	missense variant	Epidermolysis bullosa simplex, Koebner type	NC_000012.12:g.52516688A>G	ClinVar
KRT5	P13647	p.Leu463Pro	RCV000056553	missense variant	-	NC_000012.12:g.52516688A>G	ClinVar
KRT5	P13647	p.Leu463Pro	rs57599352	missense variant	-	NC_000012.12:g.52516688A>G	-
KRT5	P13647	p.Leu463Pro	rs57599352	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52516688A>G	UniProt,dbSNP
KRT5	P13647	p.Leu463Pro	VAR_003876	missense variant	Epidermolysis bullosa simplex, Koebner type (K-EBS)	NC_000012.12:g.52516688A>G	UniProt
KRT5	P13647	p.Val465Gly	rs1555156076	missense variant	-	NC_000012.12:g.52516682A>C	-
KRT5	P13647	p.Val465Gly	RCV000505555	missense variant	Epidermolysis bullosa simplex, Koebner type	NC_000012.12:g.52516682A>C	ClinVar
KRT5	P13647	p.Val465Met	rs758969808	missense variant	-	NC_000012.12:g.52516683C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu466Asp	RCV000056554	missense variant	-	NC_000012.12:g.52516678C>G	ClinVar
KRT5	P13647	p.Glu466Asp	rs62642056	missense variant	-	NC_000012.12:g.52516678C>G	ExAC,gnomAD
KRT5	P13647	p.Ile467Thr	RCV000056556	missense variant	-	NC_000012.12:g.52516676A>G	ClinVar
KRT5	P13647	p.Ile467Met	RCV000056557	missense variant	-	NC_000012.12:g.52516675G>C	ClinVar
KRT5	P13647	p.Ile467Leu	RCV000056555	missense variant	-	NC_000012.12:g.52516677T>G	ClinVar
KRT5	P13647	p.Ile467Leu	rs58288198	missense variant	-	NC_000012.12:g.52516677T>G	-
KRT5	P13647	p.Ile467Thr	rs60271599	missense variant	-	NC_000012.12:g.52516676A>G	-
KRT5	P13647	p.Ile467Thr	rs60271599	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516676A>G	UniProt,dbSNP
KRT5	P13647	p.Ile467Thr	VAR_010466	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516676A>G	UniProt
KRT5	P13647	p.Ile467Met	rs60062350	missense variant	-	NC_000012.12:g.52516675G>C	ExAC,gnomAD
KRT5	P13647	p.Ala468Thr	rs1131691471	missense variant	-	NC_000012.12:g.52516674C>T	gnomAD
KRT5	P13647	p.Ala468Ser	rs1131691471	missense variant	-	NC_000012.12:g.52516674C>A	gnomAD
KRT5	P13647	p.Ala468Ser	RCV000493793	missense variant	-	NC_000012.12:g.52516674C>A	ClinVar
KRT5	P13647	p.Thr469Pro	rs60596287	missense variant	-	NC_000012.12:g.52516671T>G	-
KRT5	P13647	p.Thr469Pro	rs60596287	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516671T>G	UniProt,dbSNP
KRT5	P13647	p.Thr469Pro	VAR_027726	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516671T>G	UniProt
KRT5	P13647	p.Thr469Pro	RCV000056558	missense variant	-	NC_000012.12:g.52516671T>G	ClinVar
KRT5	P13647	p.Thr469Ser	rs1264710617	missense variant	-	NC_000012.12:g.52516670G>C	TOPMed,gnomAD
KRT5	P13647	p.Thr469Ile	rs1264710617	missense variant	-	NC_000012.12:g.52516670G>A	TOPMed,gnomAD
KRT5	P13647	p.Arg471Cys	RCV000056559	missense variant	-	NC_000012.12:g.52516665G>A	ClinVar
KRT5	P13647	p.Arg471Ser	rs267607448	missense variant	-	NC_000012.12:g.52516665G>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg471Cys	rs267607448	missense variant	-	NC_000012.12:g.52516665G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg471His	rs895084041	missense variant	-	NC_000012.12:g.52516664C>T	TOPMed,gnomAD
KRT5	P13647	p.Lys472Ter	RCV000056560	nonsense	-	NC_000012.12:g.52516662T>A	ClinVar
KRT5	P13647	p.Lys472Ter	rs57348201	stop gained	-	NC_000012.12:g.52516662T>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Lys472Gln	rs57348201	missense variant	-	NC_000012.12:g.52516662T>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Glu475Asp	rs1314336030	missense variant	-	NC_000012.12:g.52516651C>G	gnomAD
KRT5	P13647	p.Glu475Lys	RCV000056561	missense variant	-	NC_000012.12:g.52516653C>T	ClinVar
KRT5	P13647	p.Glu475Gly	RCV000056562	missense variant	-	NC_000012.12:g.52516652T>C	ClinVar
KRT5	P13647	p.Glu475Lys	rs57155193	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516653C>T	UniProt,dbSNP
KRT5	P13647	p.Glu475Lys	VAR_023728	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516653C>T	UniProt
KRT5	P13647	p.Glu475Lys	rs57155193	missense variant	-	NC_000012.12:g.52516653C>T	-
KRT5	P13647	p.Glu475Gly	rs61348633	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516652T>C	UniProt,dbSNP
KRT5	P13647	p.Glu475Gly	VAR_003877	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516652T>C	UniProt
KRT5	P13647	p.Glu475Gly	rs61348633	missense variant	-	NC_000012.12:g.52516652T>C	-
KRT5	P13647	p.Gly476Asp	RCV000056563	missense variant	-	NC_000012.12:g.52516649C>T	ClinVar
KRT5	P13647	p.Gly476Ala	RCV000056564	missense variant	-	NC_000012.12:g.52516649C>G	ClinVar
KRT5	P13647	p.Gly476Ser	rs1302350258	missense variant	-	NC_000012.12:g.52516650C>T	gnomAD
KRT5	P13647	p.Gly476Asp	rs56922686	missense variant	-	NC_000012.12:g.52516649C>T	-
KRT5	P13647	p.Gly476Ala	rs56922686	missense variant	-	NC_000012.12:g.52516649C>G	-
KRT5	P13647	p.Glu477Lys	rs59190510	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516647C>T	UniProt,dbSNP
KRT5	P13647	p.Glu477Lys	VAR_010467	missense variant	Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)	NC_000012.12:g.52516647C>T	UniProt
KRT5	P13647	p.Glu477Lys	rs59190510	missense variant	-	NC_000012.12:g.52516647C>T	-
KRT5	P13647	p.Glu477Ter	RCV000056566	nonsense	-	NC_000012.12:g.52516647C>A	ClinVar
KRT5	P13647	p.Glu477Lys	RCV000020296	missense variant	Epidermolysis bullosa herpetiformis, Dowling-Meara (EBSDM)	NC_000012.12:g.52516647C>T	ClinVar
KRT5	P13647	p.Glu477Gly	RCV000056567	missense variant	-	NC_000012.12:g.52516646T>C	ClinVar
KRT5	P13647	p.Glu477Ter	rs59190510	stop gained	-	NC_000012.12:g.52516647C>A	-
KRT5	P13647	p.Glu477Gly	rs58319159	missense variant	-	NC_000012.12:g.52516646T>C	-
KRT5	P13647	p.Glu478Ter	RCV000056569	nonsense	-	NC_000012.12:g.52516639del	ClinVar
KRT5	P13647	p.Glu478Lys	rs267607438	missense variant	-	NC_000012.12:g.52516644C>T	-
KRT5	P13647	p.Glu478Lys	RCV000056568	missense variant	-	NC_000012.12:g.52516644C>T	ClinVar
KRT5	P13647	p.Cys479Tyr	rs374468864	missense variant	-	NC_000012.12:g.52516640C>T	ESP,ExAC,gnomAD
KRT5	P13647	p.Arg480Gly	RCV000056570	missense variant	-	NC_000012.12:g.52516638T>C	ClinVar
KRT5	P13647	p.Arg480Gly	rs267607446	missense variant	-	NC_000012.12:g.52516638T>C	-
KRT5	P13647	p.Gly483Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.52515825C>A	NCI-TCGA
KRT5	P13647	p.Glu484Ala	rs765274259	missense variant	-	NC_000012.12:g.52515821T>G	ExAC,gnomAD
KRT5	P13647	p.Gly485Arg	rs369400727	missense variant	-	NC_000012.12:g.52515819C>T	ESP,ExAC,gnomAD
KRT5	P13647	p.Val486Gly	rs753424487	missense variant	-	NC_000012.12:g.52515815A>C	ExAC,gnomAD
KRT5	P13647	p.Gly487Ala	rs1456741479	missense variant	-	NC_000012.12:g.52515812C>G	gnomAD
KRT5	P13647	p.Pro488Ser	rs765859104	missense variant	-	NC_000012.12:g.52515810G>A	ExAC,gnomAD
KRT5	P13647	p.Ile491PheGlyProValAsnIle	NCI-TCGA novel	insertion	-	NC_000012.12:g.52515240_52515241insAGATGTTGACTGGTCCAA	NCI-TCGA
KRT5	P13647	p.Ser492TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52515240_52515241insAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGT	NCI-TCGA
KRT5	P13647	p.Ser492LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52515240_52515241insAGATGTTGACTGGTCCAACTCCTTCTCCA	NCI-TCGA
KRT5	P13647	p.Ser492Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.52515240_52515241insAGATGTTGACTGGTCCAACTCCTTCTCCACTGAGTCTGCATTC	NCI-TCGA
KRT5	P13647	p.Ser492Phe	rs1159675209	missense variant	-	NC_000012.12:g.52515240G>A	gnomAD
KRT5	P13647	p.Val493Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52515237A>G	NCI-TCGA
KRT5	P13647	p.Val494Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52515234A>T	NCI-TCGA
KRT5	P13647	p.Ser496Ile	rs781440465	missense variant	-	NC_000012.12:g.52515228C>A	ExAC,gnomAD
KRT5	P13647	p.Ser499Phe	rs747286504	missense variant	-	NC_000012.12:g.52515219G>A	ExAC,gnomAD
KRT5	P13647	p.Ser499Pro	rs201274668	missense variant	-	NC_000012.12:g.52515220A>G	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser500Tyr	rs1452627937	missense variant	-	NC_000012.12:g.52515216G>T	gnomAD
KRT5	P13647	p.Gly503Ser	rs1477999089	missense variant	-	NC_000012.12:g.52515208C>T	TOPMed
KRT5	P13647	p.Ser504Arg	rs754888747	missense variant	-	NC_000012.12:g.52515203A>C	ExAC,gnomAD
KRT5	P13647	p.Gly509Asp	rs1171141730	missense variant	-	NC_000012.12:g.52515189C>T	TOPMed
KRT5	P13647	p.Gly510Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52515187C>A	NCI-TCGA
KRT5	P13647	p.Gly510Ser	rs1267846830	missense variant	-	NC_000012.12:g.52515187C>T	TOPMed
KRT5	P13647	p.Gly511Asp	rs1304444355	missense variant	-	NC_000012.12:g.52515183C>T	TOPMed
KRT5	P13647	p.Gly513Ser	rs145442570	missense variant	-	NC_000012.12:g.52515178C>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly514Arg	COSM4817788	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52515175C>T	NCI-TCGA Cosmic
KRT5	P13647	p.Leu516Pro	rs767103163	missense variant	-	NC_000012.12:g.52515168A>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Leu516Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52515169G>A	NCI-TCGA
KRT5	P13647	p.Leu516Ile	COSM940755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52515169G>T	NCI-TCGA Cosmic
KRT5	P13647	p.Gly517Asp	RCV000056573	missense variant	-	NC_000012.12:g.52515165C>T	ClinVar
KRT5	P13647	p.Gly517Asp	rs58608695	missense variant	-	NC_000012.12:g.52515165C>T	-
KRT5	P13647	p.Gly518Ser	rs370820008	missense variant	-	NC_000012.12:g.52515163C>T	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly518Cys	rs370820008	missense variant	-	NC_000012.12:g.52515163C>A	ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly518Asp	rs1360809513	missense variant	-	NC_000012.12:g.52515162C>T	gnomAD
KRT5	P13647	p.Gly519Ser	rs140352947	missense variant	-	NC_000012.12:g.52515160C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly519Ser	RCV000284119	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52515160C>T	ClinVar
KRT5	P13647	p.Leu520Phe	rs1432426125	missense variant	-	NC_000012.12:g.52515157G>A	gnomAD
KRT5	P13647	p.Gly521Ser	rs375140289	missense variant	-	NC_000012.12:g.52515154C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly521Cys	rs375140289	missense variant	-	NC_000012.12:g.52515154C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly522Glu	rs1450553863	missense variant	-	NC_000012.12:g.52515150C>T	TOPMed
KRT5	P13647	p.Gly523Asp	rs776555128	missense variant	-	NC_000012.12:g.52515147C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ala525Asp	rs1427446231	missense variant	-	NC_000012.12:g.52515141G>T	TOPMed
KRT5	P13647	p.Gly526Arg	rs571604097	missense variant	-	NC_000012.12:g.52515139C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly526Glu	rs1489330570	missense variant	-	NC_000012.12:g.52515138C>T	gnomAD
KRT5	P13647	p.Gly527Val	rs200188533	missense variant	-	NC_000012.12:g.52515135C>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly527Asp	rs200188533	missense variant	-	NC_000012.12:g.52515135C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser528Gly	RCV000244641	missense variant	-	NC_000012.12:g.52515133T>C	ClinVar
KRT5	P13647	p.Ser528Gly	rs11549950	missense variant	-	NC_000012.12:g.52515133T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser528Gly	rs11549950	missense variant	-	NC_000012.12:g.52515133T>C	UniProt,dbSNP
KRT5	P13647	p.Ser528Gly	VAR_028767	missense variant	-	NC_000012.12:g.52515133T>C	UniProt
KRT5	P13647	p.Ser528Gly	RCV000344518	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52515133T>C	ClinVar
KRT5	P13647	p.Ser529Asn	rs780003015	missense variant	-	NC_000012.12:g.52515129C>T	ExAC,gnomAD
KRT5	P13647	p.Ser529Arg	rs371846215	missense variant	-	NC_000012.12:g.52515128A>T	ESP,TOPMed,gnomAD
KRT5	P13647	p.Tyr532Cys	rs1338717205	missense variant	-	NC_000012.12:g.52515120T>C	gnomAD
KRT5	P13647	p.Ser534Ala	rs755981320	missense variant	-	NC_000012.12:g.52515115A>C	ExAC
KRT5	P13647	p.Ser535Arg	rs186608084	missense variant	-	NC_000012.12:g.52515110G>T	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Ser535Asn	rs921340055	missense variant	-	NC_000012.12:g.52515111C>T	TOPMed
KRT5	P13647	p.Ser536Asn	rs200916228	missense variant	-	NC_000012.12:g.52515108C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser537Arg	rs751150862	missense variant	-	NC_000012.12:g.52515106T>G	ExAC,gnomAD
KRT5	P13647	p.Gly538Glu	rs1336614177	missense variant	-	NC_000012.12:g.52515102C>T	TOPMed,gnomAD
KRT5	P13647	p.Gly538Arg	rs1360525919	missense variant	-	NC_000012.12:g.52515103C>T	TOPMed,gnomAD
KRT5	P13647	p.Gly539Asp	rs753029185	missense variant	-	NC_000012.12:g.52515099C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly539Ser	rs143566042	missense variant	-	NC_000012.12:g.52515100C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly541Ser	rs200216169	missense variant	-	NC_000012.12:g.52515094C>T	1000Genomes,TOPMed,gnomAD
KRT5	P13647	p.Gly543Cys	rs11549949	missense variant	-	NC_000012.12:g.52515088C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly543Ser	rs11549949	missense variant	-	NC_000012.12:g.52515088C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly543Ser	rs11549949	missense variant	-	NC_000012.12:g.52515088C>T	UniProt,dbSNP
KRT5	P13647	p.Gly543Ser	VAR_028768	missense variant	-	NC_000012.12:g.52515088C>T	UniProt
KRT5	P13647	p.Gly543Arg	rs11549949	missense variant	-	NC_000012.12:g.52515088C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly543Ser	RCV000056575	missense variant	-	NC_000012.12:g.52515088C>T	ClinVar
KRT5	P13647	p.Gly544Val	rs543699099	missense variant	-	NC_000012.12:g.52515084C>A	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Gly545Glu	rs533422741	missense variant	-	NC_000012.12:g.52515081C>T	1000Genomes,ExAC,gnomAD
KRT5	P13647	p.Leu546Ter	RCV000056576	frameshift	-	NC_000012.12:g.52515082del	ClinVar
KRT5	P13647	p.Leu546Ile	rs114734812	missense variant	-	NC_000012.12:g.52515079G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Leu546Ile	RCV000056577	missense variant	-	NC_000012.12:g.52515079G>T	ClinVar
KRT5	P13647	p.Ser547TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.52515070_52515083CCACACTGAGCCCA>-	NCI-TCGA
KRT5	P13647	p.Ser547Gly	rs775116551	missense variant	-	NC_000012.12:g.52515076T>C	ExAC,gnomAD
KRT5	P13647	p.Val548ValLeuTrpTerLeuUnk	rs761296995	stop gained	-	NC_000012.12:g.52515071_52515072insCTAATTACCATAAA	ExAC
KRT5	P13647	p.Gly549Arg	rs745778115	missense variant	-	NC_000012.12:g.52515070C>G	ExAC,gnomAD
KRT5	P13647	p.Gly549Glu	COSM3462312	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.52515069C>T	NCI-TCGA Cosmic
KRT5	P13647	p.Gly549Ala	rs1472218681	missense variant	-	NC_000012.12:g.52515069C>G	TOPMed
KRT5	P13647	p.Gly550Ter	RCV000056578	frameshift	-	NC_000012.12:g.52515071del	ClinVar
KRT5	P13647	p.Gly550Ter	RCV000015761	frameshift	Epidermolysis bullosa simplex with migratory circinate erythema	NC_000012.12:g.52515071del	ClinVar
KRT5	P13647	p.Gly550Ala	rs746549590	missense variant	-	NC_000012.12:g.52515066C>G	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly550Ser	rs770359543	missense variant	-	NC_000012.12:g.52515067C>T	ExAC,gnomAD
KRT5	P13647	p.Phe553Leu	rs752438760	missense variant	-	NC_000012.12:g.52515056G>T	ExAC,gnomAD
KRT5	P13647	p.Ala555Thr	rs779144030	missense variant	-	NC_000012.12:g.52515052C>T	ExAC,gnomAD
KRT5	P13647	p.Ser557Thr	rs1403642422	missense variant	-	NC_000012.12:g.52515045C>G	gnomAD
KRT5	P13647	p.Arg559Ter	RCV000256176	nonsense	-	NC_000012.12:g.52515040G>A	ClinVar
KRT5	P13647	p.Arg559Gln	rs182482982	missense variant	-	NC_000012.12:g.52515039C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg559Leu	rs182482982	missense variant	-	NC_000012.12:g.52515039C>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg559Ter	rs754242209	stop gained	-	NC_000012.12:g.52515040G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly560Arg	rs750554604	missense variant	-	NC_000012.12:g.52515037C>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Leu561Arg	rs1458198475	missense variant	-	NC_000012.12:g.52515033A>C	TOPMed,gnomAD
KRT5	P13647	p.Gly562Arg	rs980414870	missense variant	-	NC_000012.12:g.52515031C>T	TOPMed
KRT5	P13647	p.Val563Gly	rs1242622848	missense variant	-	NC_000012.12:g.52515027A>C	TOPMed
KRT5	P13647	p.Gly564Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52515025C>T	NCI-TCGA
KRT5	P13647	p.Phe565Leu	rs1323027579	missense variant	-	NC_000012.12:g.52515020A>C	gnomAD
KRT5	P13647	p.Gly566Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52515018C>G	NCI-TCGA
KRT5	P13647	p.Gly566Asp	rs1289903952	missense variant	-	NC_000012.12:g.52515018C>T	TOPMed,gnomAD
KRT5	P13647	p.Ser567Arg	rs1222858963	missense variant	-	NC_000012.12:g.52515014A>C	gnomAD
KRT5	P13647	p.Gly568Asp	rs1228364754	missense variant	-	NC_000012.12:g.52515012C>T	TOPMed
KRT5	P13647	p.Gly569Arg	RCV000388341	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52515010C>T	ClinVar
KRT5	P13647	p.Gly569Arg	rs148276250	missense variant	-	NC_000012.12:g.52515010C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly569Trp	rs148276250	missense variant	-	NC_000012.12:g.52515010C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly569Arg	rs148276250	missense variant	-	NC_000012.12:g.52515010C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Gly569Glu	rs770872825	missense variant	-	NC_000012.12:g.52515009C>T	ExAC,gnomAD
KRT5	P13647	p.Gly570Cys	rs771681325	missense variant	-	NC_000012.12:g.52515007C>A	ExAC,gnomAD
KRT5	P13647	p.Gly570Arg	rs771681325	missense variant	-	NC_000012.12:g.52515007C>G	ExAC,gnomAD
KRT5	P13647	p.Gly570Ser	rs771681325	missense variant	-	NC_000012.12:g.52515007C>T	ExAC,gnomAD
KRT5	P13647	p.Gly570Val	rs1434878695	missense variant	-	NC_000012.12:g.52515006C>A	gnomAD
KRT5	P13647	p.Ser571Gly	rs1351700157	missense variant	-	NC_000012.12:g.52515004T>C	gnomAD
KRT5	P13647	p.Ser571Arg	rs778643234	missense variant	-	NC_000012.12:g.52515002G>C	ExAC
KRT5	P13647	p.Ser572Asn	rs1419399135	missense variant	-	NC_000012.12:g.52515000C>T	gnomAD
KRT5	P13647	p.Ser572Arg	rs755232621	missense variant	-	NC_000012.12:g.52515001T>G	ExAC,gnomAD
KRT5	P13647	p.Ser573Phe	rs371399560	missense variant	-	NC_000012.12:g.52514997G>A	ESP
KRT5	P13647	p.Ser574Arg	rs1044552514	missense variant	-	NC_000012.12:g.52514995T>G	gnomAD
KRT5	P13647	p.Ser574Arg	rs572464702	missense variant	-	NC_000012.12:g.52514993G>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Val575Phe	rs552694552	missense variant	-	NC_000012.12:g.52514992C>A	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Val575Ile	rs552694552	missense variant	-	NC_000012.12:g.52514992C>T	1000Genomes,ExAC,TOPMed,gnomAD
KRT5	P13647	p.Lys576Glu	rs751037633	missense variant	-	NC_000012.12:g.52514989T>C	ExAC,gnomAD
KRT5	P13647	p.Phe577Tyr	RCV000056580	missense variant	-	NC_000012.12:g.52514985A>T	ClinVar
KRT5	P13647	p.Phe577Ile	rs767689296	missense variant	-	NC_000012.12:g.52514986A>T	ExAC,gnomAD
KRT5	P13647	p.Phe577Tyr	rs267607442	missense variant	-	NC_000012.12:g.52514985A>T	-
KRT5	P13647	p.Val578Phe	rs1246854113	missense variant	-	NC_000012.12:g.52514983C>A	TOPMed,gnomAD
KRT5	P13647	p.Ser579Tyr	RCV000333840	missense variant	Epidermolysis bullosa simplex	NC_000012.12:g.52514979G>T	ClinVar
KRT5	P13647	p.Ser579Tyr	rs781707438	missense variant	-	NC_000012.12:g.52514979G>T	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Ser582Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52514970G>T	NCI-TCGA
KRT5	P13647	p.Ser583Phe	rs975373821	missense variant	-	NC_000012.12:g.52514967G>A	TOPMed,gnomAD
KRT5	P13647	p.Ser584Pro	rs1312600827	missense variant	-	NC_000012.12:g.52514965A>G	gnomAD
KRT5	P13647	p.Arg585Leu	rs776384768	missense variant	-	NC_000012.12:g.52514961C>A	ExAC,gnomAD
KRT5	P13647	p.Arg585Trp	rs759198073	missense variant	-	NC_000012.12:g.52514962G>A	ExAC,TOPMed,gnomAD
KRT5	P13647	p.Arg585Gln	rs776384768	missense variant	-	NC_000012.12:g.52514961C>T	ExAC,gnomAD
KRT5	P13647	p.Ser587Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.52514955C>T	NCI-TCGA
KRT5	P13647	p.Lys589Asn	rs1300949414	missense variant	-	NC_000012.12:g.52514948C>G	gnomAD
KRT5	P13647	p.Lys589Arg	rs1354888572	missense variant	-	NC_000012.12:g.52514949T>C	gnomAD
KRT5	P13647	p.Ser590Asn	rs770756355	missense variant	-	NC_000012.12:g.52514946C>T	ExAC,gnomAD
MMP9	P14780	p.Met1Lys	RCV000018642	missense variant	Metaphyseal anadysplasia 2 (MANDP2)	NC_000020.11:g.46008928T>A	ClinVar
MMP9	P14780	p.Leu3Pro	rs1248852302	missense variant	-	NC_000020.11:g.46008934T>C	gnomAD
MMP9	P14780	p.Gln5Lys	rs1416299149	missense variant	-	NC_000020.11:g.46008939C>A	TOPMed
MMP9	P14780	p.Leu9Arg	rs749593366	missense variant	-	NC_000020.11:g.46008952T>G	ExAC,gnomAD
MMP9	P14780	p.Val10Met	rs377557970	missense variant	-	NC_000020.11:g.46008954G>A	ESP,ExAC,gnomAD
MMP9	P14780	p.Leu11Phe	rs1421030578	missense variant	-	NC_000020.11:g.46008957C>T	gnomAD
MMP9	P14780	p.Val13Leu	rs973255035	missense variant	-	NC_000020.11:g.46008963G>C	TOPMed
MMP9	P14780	p.Leu14Met	rs1394084492	missense variant	-	NC_000020.11:g.46008966C>A	gnomAD
MMP9	P14780	p.Gly15Asp	rs775382644	missense variant	-	NC_000020.11:g.46008970G>A	ExAC,gnomAD
MMP9	P14780	p.Cys17Tyr	rs199986473	missense variant	-	NC_000020.11:g.46008976G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Cys17Gly	rs764157311	missense variant	-	NC_000020.11:g.46008975T>G	ExAC,gnomAD
MMP9	P14780	p.Phe18Val	rs1389114921	missense variant	-	NC_000020.11:g.46008978T>G	gnomAD
MMP9	P14780	p.Ala19Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46008981G>T	NCI-TCGA
MMP9	P14780	p.Ala20Val	rs1805088	missense variant	-	NC_000020.11:g.46008985C>T	UniProt,dbSNP
MMP9	P14780	p.Ala20Val	VAR_013780	missense variant	-	NC_000020.11:g.46008985C>T	UniProt
MMP9	P14780	p.Ala20Val	rs1805088	missense variant	-	NC_000020.11:g.46008985C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ala20Gly	rs1805088	missense variant	-	NC_000020.11:g.46008985C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ala20Val	RCV000378591	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46008985C>T	ClinVar
MMP9	P14780	p.Ala20Thr	RCV000344813	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46008984G>A	ClinVar
MMP9	P14780	p.Ala20Thr	rs886056714	missense variant	-	NC_000020.11:g.46008984G>A	-
MMP9	P14780	p.Pro21Leu	COSM6093518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46008988C>T	NCI-TCGA Cosmic
MMP9	P14780	p.Arg24Cys	rs144023823	missense variant	-	NC_000020.11:g.46008996C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg24His	rs143089810	missense variant	-	NC_000020.11:g.46008997G>A	ESP
MMP9	P14780	p.Ser26Phe	COSM3547157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46009003C>T	NCI-TCGA Cosmic
MMP9	P14780	p.Thr27Ile	rs201841087	missense variant	-	NC_000020.11:g.46009006C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Leu28Phe	rs777201664	missense variant	-	NC_000020.11:g.46009008C>T	ExAC,gnomAD
MMP9	P14780	p.Leu28Pro	COSM269606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46009009T>C	NCI-TCGA Cosmic
MMP9	P14780	p.Pro32Thr	rs756942448	missense variant	-	NC_000020.11:g.46009020C>A	ExAC,gnomAD
MMP9	P14780	p.Gly33Arg	rs1409224430	missense variant	-	NC_000020.11:g.46009023G>A	TOPMed,gnomAD
MMP9	P14780	p.Leu35Val	rs779227367	missense variant	-	NC_000020.11:g.46009029C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr37Ala	rs1311674897	missense variant	-	NC_000020.11:g.46009035A>G	TOPMed,gnomAD
MMP9	P14780	p.Asn38Lys	rs761037128	missense variant	-	NC_000020.11:g.46009040T>A	TOPMed,gnomAD
MMP9	P14780	p.Asn38Ser	rs41427445	missense variant	-	NC_000020.11:g.46009039A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asn38Ser	rs41427445	missense variant	-	NC_000020.11:g.46009039A>G	UniProt,dbSNP
MMP9	P14780	p.Asn38Ser	VAR_037004	missense variant	-	NC_000020.11:g.46009039A>G	UniProt
MMP9	P14780	p.Leu39Phe	rs1357464329	missense variant	-	NC_000020.11:g.46009041C>T	TOPMed,gnomAD
MMP9	P14780	p.Leu39Ile	rs1357464329	missense variant	-	NC_000020.11:g.46009041C>A	TOPMed,gnomAD
MMP9	P14780	p.Asp41Asn	rs201595065	missense variant	-	NC_000020.11:g.46009047G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg42Lys	rs768767596	missense variant	-	NC_000020.11:g.46009051G>A	ExAC,gnomAD
MMP9	P14780	p.Gln43His	rs142807270	missense variant	-	NC_000020.11:g.46009055G>T	ESP,ExAC,gnomAD
MMP9	P14780	p.Gln43His	COSM6093517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46009055G>C	NCI-TCGA Cosmic
MMP9	P14780	p.Ala45Val	rs1189873574	missense variant	-	NC_000020.11:g.46009060C>T	gnomAD
MMP9	P14780	p.Glu47Gly	rs1236078412	missense variant	-	NC_000020.11:g.46009867A>G	gnomAD
MMP9	P14780	p.Glu47Lys	rs150576883	missense variant	-	NC_000020.11:g.46009866G>A	ESP,ExAC,gnomAD
MMP9	P14780	p.Tyr50His	rs1350125067	missense variant	-	NC_000020.11:g.46009875T>C	gnomAD
MMP9	P14780	p.Arg51Cys	rs139620474	missense variant	-	NC_000020.11:g.46009878C>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg51Ser	rs139620474	missense variant	-	NC_000020.11:g.46009878C>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg51His	rs1465166516	missense variant	-	NC_000020.11:g.46009879G>A	TOPMed,gnomAD
MMP9	P14780	p.Tyr52Cys	rs747548343	missense variant	-	NC_000020.11:g.46009882A>G	ExAC,gnomAD
MMP9	P14780	p.Thr55Ile	rs201920350	missense variant	-	NC_000020.11:g.46009891C>T	ExAC,gnomAD
MMP9	P14780	p.Thr55Ala	rs1199504802	missense variant	-	NC_000020.11:g.46009890A>G	gnomAD
MMP9	P14780	p.Arg56Trp	rs1468213676	missense variant	-	NC_000020.11:g.46009893C>T	gnomAD
MMP9	P14780	p.Arg56Gln	rs1160886270	missense variant	-	NC_000020.11:g.46009894G>A	gnomAD
MMP9	P14780	p.Ala58Val	rs373331430	missense variant	-	NC_000020.11:g.46009900C>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ala58Pro	rs1460626188	missense variant	-	NC_000020.11:g.46009899G>C	gnomAD
MMP9	P14780	p.Glu59Gln	rs199906203	missense variant	-	NC_000020.11:g.46009902G>C	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Glu59Gln	RCV000175795	missense variant	-	NC_000020.11:g.46009902G>C	ClinVar
MMP9	P14780	p.Met60Val	rs1402945575	missense variant	-	NC_000020.11:g.46009905A>G	gnomAD
MMP9	P14780	p.Arg61His	rs201069991	missense variant	-	NC_000020.11:g.46009909G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg61Cys	rs370018925	missense variant	-	NC_000020.11:g.46009908C>T	ESP,TOPMed,gnomAD
MMP9	P14780	p.Arg61Pro	rs201069991	missense variant	-	NC_000020.11:g.46009909G>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Glu63Gly	rs1208926409	missense variant	-	NC_000020.11:g.46009915A>G	TOPMed
MMP9	P14780	p.Ser64Ter	rs1048809692	stop gained	-	NC_000020.11:g.46009918C>A	TOPMed,gnomAD
MMP9	P14780	p.Ser64Pro	rs1237041404	missense variant	-	NC_000020.11:g.46009917T>C	gnomAD
MMP9	P14780	p.Ser64Leu	rs1048809692	missense variant	-	NC_000020.11:g.46009918C>T	TOPMed,gnomAD
MMP9	P14780	p.Leu67Pro	rs1232902097	missense variant	-	NC_000020.11:g.46009927T>C	gnomAD
MMP9	P14780	p.Gly68Arg	rs1270974207	missense variant	-	NC_000020.11:g.46009929G>A	gnomAD
MMP9	P14780	p.Pro69Leu	rs1489372682	missense variant	-	NC_000020.11:g.46009933C>T	TOPMed,gnomAD
MMP9	P14780	p.Ala70Val	rs1014494202	missense variant	-	NC_000020.11:g.46009936C>T	TOPMed,gnomAD
MMP9	P14780	p.Ala70Glu	rs1014494202	missense variant	-	NC_000020.11:g.46009936C>A	TOPMed,gnomAD
MMP9	P14780	p.Leu73Phe	rs1435543367	missense variant	-	NC_000020.11:g.46009944C>T	TOPMed,gnomAD
MMP9	P14780	p.Lys76Asn	rs1474644021	missense variant	-	NC_000020.11:g.46009955G>T	TOPMed,gnomAD
MMP9	P14780	p.Leu78Val	rs1162424705	missense variant	-	NC_000020.11:g.46009959C>G	gnomAD
MMP9	P14780	p.Glu82Lys	rs1805089	missense variant	-	NC_000020.11:g.46009971G>A	UniProt,dbSNP
MMP9	P14780	p.Glu82Lys	VAR_013781	missense variant	-	NC_000020.11:g.46009971G>A	UniProt
MMP9	P14780	p.Glu82Lys	rs1805089	missense variant	-	NC_000020.11:g.46009971G>A	ExAC,gnomAD
MMP9	P14780	p.Glu82Gln	rs1805089	missense variant	-	NC_000020.11:g.46009971G>C	ExAC,gnomAD
MMP9	P14780	p.Gly84Ser	rs143695450	missense variant	-	NC_000020.11:g.46009977G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly84Cys	rs143695450	missense variant	-	NC_000020.11:g.46009977G>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Glu85Gly	rs1309853230	missense variant	-	NC_000020.11:g.46009981A>G	gnomAD
MMP9	P14780	p.Leu86Arg	rs760637974	missense variant	-	NC_000020.11:g.46009984T>G	ExAC,gnomAD
MMP9	P14780	p.Asp87Glu	rs764040727	missense variant	-	NC_000020.11:g.46009988T>G	ExAC,gnomAD
MMP9	P14780	p.Ser88Asn	rs1323253154	missense variant	-	NC_000020.11:g.46009990G>A	gnomAD
MMP9	P14780	p.Ala89Thr	rs1250570940	missense variant	-	NC_000020.11:g.46009992G>A	TOPMed,gnomAD
MMP9	P14780	p.Lys92Arg	rs1485098105	missense variant	-	NC_000020.11:g.46010002A>G	gnomAD
MMP9	P14780	p.Ala93Thr	rs1257898367	missense variant	-	NC_000020.11:g.46010004G>A	gnomAD
MMP9	P14780	p.Arg95Ter	rs377251829	stop gained	-	NC_000020.11:g.46010010C>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr96Ser	rs562814692	missense variant	-	NC_000020.11:g.46010014C>G	1000Genomes,TOPMed,gnomAD
MMP9	P14780	p.Pro97Thr	rs1171100463	missense variant	-	NC_000020.11:g.46010016C>A	gnomAD
MMP9	P14780	p.Arg98Leu	rs140352541	missense variant	-	NC_000020.11:g.46010020G>T	ESP,TOPMed,gnomAD
MMP9	P14780	p.Arg98Trp	rs1371238110	missense variant	-	NC_000020.11:g.46010019C>T	gnomAD
MMP9	P14780	p.Arg98Gln	rs140352541	missense variant	-	NC_000020.11:g.46010020G>A	ESP,TOPMed,gnomAD
MMP9	P14780	p.Gly100Ala	rs1301292849	missense variant	-	NC_000020.11:g.46010026G>C	gnomAD
MMP9	P14780	p.Gly100Trp	rs1319751051	missense variant	-	NC_000020.11:g.46010025G>T	gnomAD
MMP9	P14780	p.Pro102Ala	rs1244656505	missense variant	-	NC_000020.11:g.46010031C>G	TOPMed
MMP9	P14780	p.Leu104Pro	rs996062494	missense variant	-	NC_000020.11:g.46010038T>C	TOPMed,gnomAD
MMP9	P14780	p.Gly105Ser	rs1346496443	missense variant	-	NC_000020.11:g.46010040G>A	gnomAD
MMP9	P14780	p.Gln108Glu	COSM1412130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46010049C>G	NCI-TCGA Cosmic
MMP9	P14780	p.Thr109Ile	rs200316960	missense variant	-	NC_000020.11:g.46010053C>T	TOPMed,gnomAD
MMP9	P14780	p.Gly112Ser	rs1483332362	missense variant	-	NC_000020.11:g.46010061G>A	gnomAD
MMP9	P14780	p.Gly112Asp	rs1201798763	missense variant	-	NC_000020.11:g.46010062G>A	gnomAD
MMP9	P14780	p.Asp113Asn	rs976680437	missense variant	-	NC_000020.11:g.46010064G>A	gnomAD
MMP9	P14780	p.Lys115Arg	rs202158739	missense variant	-	NC_000020.11:g.46010071A>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Trp116Ter	rs1448118597	stop gained	-	NC_000020.11:g.46010074G>A	TOPMed,gnomAD
MMP9	P14780	p.His119Tyr	rs1391377337	missense variant	-	NC_000020.11:g.46010082C>T	gnomAD
MMP9	P14780	p.Asn120His	rs1011983510	missense variant	-	NC_000020.11:g.46010085A>C	TOPMed,gnomAD
MMP9	P14780	p.Asn120Ser	rs1173991915	missense variant	-	NC_000020.11:g.46010086A>G	TOPMed,gnomAD
MMP9	P14780	p.Ile121Phe	rs1360980988	missense variant	-	NC_000020.11:g.46010088A>T	gnomAD
MMP9	P14780	p.Trp124Arg	rs1042913543	missense variant	-	NC_000020.11:g.46010097T>C	TOPMed,gnomAD
MMP9	P14780	p.Trp124Arg	rs1042913543	missense variant	-	NC_000020.11:g.46010097T>A	TOPMed,gnomAD
MMP9	P14780	p.Gln126Arg	rs966535029	missense variant	-	NC_000020.11:g.46010488A>G	TOPMed
MMP9	P14780	p.Asn127Lys	rs3918252	missense variant	-	NC_000020.11:g.46010492C>G	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser129Trp	rs756724622	missense variant	-	NC_000020.11:g.46010497C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser129Ala	rs753247273	missense variant	-	NC_000020.11:g.46010496T>G	ExAC,gnomAD
MMP9	P14780	p.Glu130Gln	rs1471912767	missense variant	-	NC_000020.11:g.46010499G>C	TOPMed
MMP9	P14780	p.Pro133Leu	rs749347450	missense variant	-	NC_000020.11:g.46010509C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro133Ser	rs193209205	missense variant	-	NC_000020.11:g.46010508C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg134Trp	rs200637345	missense variant	-	NC_000020.11:g.46010511C>T	-
MMP9	P14780	p.Arg134Gln	rs1292338609	missense variant	-	NC_000020.11:g.46010512G>A	gnomAD
MMP9	P14780	p.Ala135Val	rs757458476	missense variant	-	NC_000020.11:g.46010515C>T	ExAC,gnomAD
MMP9	P14780	p.Asp138Gly	rs146456046	missense variant	-	NC_000020.11:g.46010524A>G	ESP,ExAC,gnomAD
MMP9	P14780	p.Asp139Asn	COSM4098941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46010526G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Ala140Val	rs746759681	missense variant	-	NC_000020.11:g.46010530C>T	ExAC,gnomAD
MMP9	P14780	p.Arg143Cys	rs768427160	missense variant	-	NC_000020.11:g.46010538C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg143His	rs776477347	missense variant	-	NC_000020.11:g.46010539G>A	ExAC,gnomAD
MMP9	P14780	p.Ala144Gly	rs370718441	missense variant	-	NC_000020.11:g.46010542C>G	ExAC,gnomAD
MMP9	P14780	p.Ala144Thr	COSM262046	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46010541G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Phe145Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46010546C>A	NCI-TCGA
MMP9	P14780	p.Ala146Val	rs201130037	missense variant	-	NC_000020.11:g.46010548C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Trp148Arg	rs762404241	missense variant	-	NC_000020.11:g.46010553T>C	ExAC,gnomAD
MMP9	P14780	p.Ser149Arg	rs201902138	missense variant	-	NC_000020.11:g.46010558C>G	ExAC,gnomAD
MMP9	P14780	p.Ser149Arg	rs201902138	missense variant	-	NC_000020.11:g.46010558C>A	ExAC,gnomAD
MMP9	P14780	p.Ser149Asn	rs770554685	missense variant	-	NC_000020.11:g.46010557G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val151Leu	rs753159137	missense variant	-	NC_000020.11:g.46010562G>C	ExAC,gnomAD
MMP9	P14780	p.Thr152Met	COSM270949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46010566C>T	NCI-TCGA Cosmic
MMP9	P14780	p.Pro153Gln	rs753889026	missense variant	-	NC_000020.11:g.46010569C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro153Ser	rs764539138	missense variant	-	NC_000020.11:g.46010568C>T	ExAC,gnomAD
MMP9	P14780	p.Leu154Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46010571C>A	NCI-TCGA
MMP9	P14780	p.Thr155Ile	rs143024943	missense variant	-	NC_000020.11:g.46010575C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr155Ile	RCV000286425	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46010575C>T	ClinVar
MMP9	P14780	p.Arg158His	rs1344383872	missense variant	-	NC_000020.11:g.46010584G>A	gnomAD
MMP9	P14780	p.Val159Leu	rs1338781828	missense variant	-	NC_000020.11:g.46010586G>T	TOPMed
MMP9	P14780	p.Val159Met	rs1338781828	missense variant	-	NC_000020.11:g.46010586G>A	TOPMed
MMP9	P14780	p.Tyr160His	rs368247718	missense variant	-	NC_000020.11:g.46010589T>C	ESP,ExAC,gnomAD
MMP9	P14780	p.Ala164Thr	COSM4098945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46010601G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Asp165Asn	rs8125581	missense variant	-	NC_000020.11:g.46010604G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val167Ala	rs747962072	missense variant	-	NC_000020.11:g.46010611T>C	ExAC,gnomAD
MMP9	P14780	p.Ile168Thr	rs1237824635	missense variant	-	NC_000020.11:g.46010614T>C	gnomAD
MMP9	P14780	p.Gln169Arg	rs1186571087	missense variant	-	NC_000020.11:g.46010617A>G	gnomAD
MMP9	P14780	p.Ala173Thr	rs777580909	missense variant	-	NC_000020.11:g.46010628G>A	ExAC,gnomAD
MMP9	P14780	p.Ala173Glu	rs202214757	missense variant	-	NC_000020.11:g.46010629C>A	ExAC,gnomAD
MMP9	P14780	p.Glu174Gly	rs371298738	missense variant	-	NC_000020.11:g.46010922A>G	ESP,ExAC,gnomAD
MMP9	P14780	p.Gly176Glu	rs775295226	missense variant	-	NC_000020.11:g.46010928G>A	ExAC,gnomAD
MMP9	P14780	p.Gly176Arg	rs771781780	missense variant	-	NC_000020.11:g.46010927G>A	ExAC,gnomAD
MMP9	P14780	p.Tyr179Cys	rs768898768	missense variant	-	NC_000020.11:g.46010937A>G	ExAC,gnomAD
MMP9	P14780	p.Tyr179His	rs141088574	missense variant	-	NC_000020.11:g.46010936T>C	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro180Leu	rs199676062	missense variant	-	NC_000020.11:g.46010940C>T	TOPMed,gnomAD
MMP9	P14780	p.Pro180Ser	rs1198905817	missense variant	-	NC_000020.11:g.46010939C>T	gnomAD
MMP9	P14780	p.Asp182Tyr	rs769270769	missense variant	-	NC_000020.11:g.46010945G>T	gnomAD
MMP9	P14780	p.Asp182Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46010945G>A	NCI-TCGA
MMP9	P14780	p.Gly183Arg	rs762206194	missense variant	-	NC_000020.11:g.46010948G>A	ExAC,gnomAD
MMP9	P14780	p.Gly183Ala	rs201932479	missense variant	-	NC_000020.11:g.46010949G>C	1000Genomes,ExAC,gnomAD
MMP9	P14780	p.Gly183Glu	rs201932479	missense variant	-	NC_000020.11:g.46010949G>A	1000Genomes,ExAC,gnomAD
MMP9	P14780	p.Lys184Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46010953G>T	NCI-TCGA
MMP9	P14780	p.Asp185Glu	rs763027034	missense variant	-	NC_000020.11:g.46010956C>A	ExAC,gnomAD
MMP9	P14780	p.Gly186Arg	rs751770581	missense variant	-	NC_000020.11:g.46010957G>A	ExAC,gnomAD
MMP9	P14780	p.Leu187Val	rs55789927	missense variant	-	NC_000020.11:g.46010960C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Leu187Ile	rs55789927	missense variant	-	NC_000020.11:g.46010960C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Leu187Phe	rs55789927	missense variant	-	NC_000020.11:g.46010960C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Leu188Met	COSM1027369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46010963C>A	NCI-TCGA Cosmic
MMP9	P14780	p.His190Gln	rs778997562	missense variant	-	NC_000020.11:g.46010971C>A	ExAC,gnomAD
MMP9	P14780	p.His190Leu	rs757099264	missense variant	-	NC_000020.11:g.46010970A>T	ExAC,gnomAD
MMP9	P14780	p.His190Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46010969C>T	NCI-TCGA
MMP9	P14780	p.Ala191Pro	rs1263490093	missense variant	-	NC_000020.11:g.46010972G>C	TOPMed,gnomAD
MMP9	P14780	p.Ala191Thr	rs1263490093	missense variant	-	NC_000020.11:g.46010972G>A	TOPMed,gnomAD
MMP9	P14780	p.Pro193Leu	rs745316667	missense variant	-	NC_000020.11:g.46010979C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro193Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46010978C>T	NCI-TCGA
MMP9	P14780	p.Pro194Ser	rs757968778	missense variant	-	NC_000020.11:g.46010981C>T	ExAC,gnomAD
MMP9	P14780	p.Pro194Thr	COSM1027371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46010981C>A	NCI-TCGA Cosmic
MMP9	P14780	p.Gly195Asp	rs746611387	missense variant	-	NC_000020.11:g.46010985G>A	ExAC,gnomAD
MMP9	P14780	p.Pro196Thr	rs768405328	missense variant	-	NC_000020.11:g.46010987C>A	ExAC,gnomAD
MMP9	P14780	p.Pro196Ser	rs768405328	missense variant	-	NC_000020.11:g.46010987C>T	ExAC,gnomAD
MMP9	P14780	p.Ile198Asn	rs1326291859	missense variant	-	NC_000020.11:g.46010994T>A	TOPMed
MMP9	P14780	p.Gln199His	rs748578814	missense variant	-	NC_000020.11:g.46010998G>C	ExAC,gnomAD
MMP9	P14780	p.Ala202Ser	rs1367099843	missense variant	-	NC_000020.11:g.46011005G>T	gnomAD
MMP9	P14780	p.Ala202Thr	COSM1027375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011005G>A	NCI-TCGA Cosmic
MMP9	P14780	p.His203Tyr	rs770222441	missense variant	-	NC_000020.11:g.46011008C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp205Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46011014G>A	NCI-TCGA
MMP9	P14780	p.Glu208Gln	rs139218878	missense variant	-	NC_000020.11:g.46011023G>C	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Glu208Lys	rs139218878	missense variant	-	NC_000020.11:g.46011023G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Trp210Ter	rs200618210	stop gained	-	NC_000020.11:g.46011031G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Leu212Val	rs201775419	missense variant	-	NC_000020.11:g.46011035C>G	TOPMed,gnomAD
MMP9	P14780	p.Gly213Asp	rs199602749	missense variant	-	NC_000020.11:g.46011039G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val216Leu	rs1246618527	missense variant	-	NC_000020.11:g.46011047G>C	gnomAD
MMP9	P14780	p.Val218Ala	rs765092423	missense variant	-	NC_000020.11:g.46011146T>C	ExAC,gnomAD
MMP9	P14780	p.Val218Leu	rs1454156823	missense variant	-	NC_000020.11:g.46011145G>C	TOPMed
MMP9	P14780	p.Pro219Ser	COSM3547159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011148C>T	NCI-TCGA Cosmic
MMP9	P14780	p.Pro219Gln	COSM1027377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011149C>A	NCI-TCGA Cosmic
MMP9	P14780	p.Thr220Ala	rs750293045	missense variant	-	NC_000020.11:g.46011151A>G	ExAC,gnomAD
MMP9	P14780	p.Arg221Gln	rs762936205	missense variant	-	NC_000020.11:g.46011155G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Phe222Cys	rs1382740469	missense variant	-	NC_000020.11:g.46011158T>G	TOPMed
MMP9	P14780	p.Asn224Tyr	rs143230916	missense variant	-	NC_000020.11:g.46011163A>T	ESP
MMP9	P14780	p.Ala225Thr	COSM1027379	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011166G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Gly227Asp	rs750969696	missense variant	-	NC_000020.11:g.46011173G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ala228Gly	rs1386256475	missense variant	-	NC_000020.11:g.46011176C>G	TOPMed,gnomAD
MMP9	P14780	p.Ala228Val	rs1386256475	missense variant	-	NC_000020.11:g.46011176C>T	TOPMed,gnomAD
MMP9	P14780	p.Ala228Thr	COSM3405156	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011175G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Ala229Pro	rs752393848	missense variant	-	NC_000020.11:g.46011178G>C	ExAC,gnomAD
MMP9	P14780	p.Ala229Asp	rs1366255883	missense variant	-	NC_000020.11:g.46011179C>A	gnomAD
MMP9	P14780	p.His231Pro	COSM3841164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011185A>C	NCI-TCGA Cosmic
MMP9	P14780	p.Pro233Arg	rs1302811072	missense variant	-	NC_000020.11:g.46011191C>G	gnomAD
MMP9	P14780	p.Phe234Cys	rs1267880862	missense variant	-	NC_000020.11:g.46011194T>G	gnomAD
MMP9	P14780	p.Phe234Val	rs755807976	missense variant	-	NC_000020.11:g.46011193T>G	ExAC,gnomAD
MMP9	P14780	p.Phe236Leu	rs1422956340	missense variant	-	NC_000020.11:g.46011201C>A	TOPMed
MMP9	P14780	p.Arg239His	rs28763886	missense variant	-	NC_000020.11:g.46011209G>A	UniProt,dbSNP
MMP9	P14780	p.Arg239His	VAR_025165	missense variant	-	NC_000020.11:g.46011209G>A	UniProt
MMP9	P14780	p.Arg239His	rs28763886	missense variant	-	NC_000020.11:g.46011209G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg239Ser	rs200507335	missense variant	-	NC_000020.11:g.46011208C>A	TOPMed
MMP9	P14780	p.Arg239His	RCV000397813	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46011209G>A	ClinVar
MMP9	P14780	p.Ser240Cys	rs199564350	missense variant	-	NC_000020.11:g.46011212C>G	gnomAD
MMP9	P14780	p.Ser240Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46011212C>T	NCI-TCGA
MMP9	P14780	p.Ser242Thr	rs1350331916	missense variant	-	NC_000020.11:g.46011217T>A	TOPMed,gnomAD
MMP9	P14780	p.Ala243Val	rs749681548	missense variant	-	NC_000020.11:g.46011221C>T	ExAC,gnomAD
MMP9	P14780	p.Ala243Thr	rs1488453804	missense variant	-	NC_000020.11:g.46011220G>A	gnomAD
MMP9	P14780	p.Thr245Ile	rs1265778843	missense variant	-	NC_000020.11:g.46011227C>T	TOPMed
MMP9	P14780	p.Thr246Ile	rs771359021	missense variant	-	NC_000020.11:g.46011230C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr246Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46011230C>A	NCI-TCGA
MMP9	P14780	p.Asp247Glu	rs200792951	missense variant	-	NC_000020.11:g.46011234C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp247Glu	rs200792951	missense variant	-	NC_000020.11:g.46011234C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp247Asn	rs746419143	missense variant	-	NC_000020.11:g.46011232G>A	ExAC
MMP9	P14780	p.Gly248Ser	rs1247744387	missense variant	-	NC_000020.11:g.46011235G>A	TOPMed
MMP9	P14780	p.Asp251Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46011244G>A	NCI-TCGA
MMP9	P14780	p.Gly252Cys	rs760957320	missense variant	-	NC_000020.11:g.46011247G>T	ExAC,gnomAD
MMP9	P14780	p.Leu253Ter	rs1389707993	stop gained	-	NC_000020.11:g.46011251T>A	gnomAD
MMP9	P14780	p.Leu253Phe	rs1447099976	missense variant	-	NC_000020.11:g.46011252G>C	gnomAD
MMP9	P14780	p.Pro254Ser	rs1349186420	missense variant	-	NC_000020.11:g.46011253C>T	gnomAD
MMP9	P14780	p.Pro254Arg	rs1310933038	missense variant	-	NC_000020.11:g.46011254C>G	gnomAD
MMP9	P14780	p.Cys256Phe	rs1294717327	missense variant	-	NC_000020.11:g.46011260G>T	gnomAD
MMP9	P14780	p.Cys256Tyr	rs1294717327	missense variant	-	NC_000020.11:g.46011260G>A	gnomAD
MMP9	P14780	p.Ser257Asn	rs773103169	missense variant	-	NC_000020.11:g.46011263G>A	ExAC,gnomAD
MMP9	P14780	p.Ser257Thr	rs773103169	missense variant	-	NC_000020.11:g.46011263G>C	ExAC,gnomAD
MMP9	P14780	p.Ser257Gly	rs1374029680	missense variant	-	NC_000020.11:g.46011262A>G	gnomAD
MMP9	P14780	p.Thr258Ile	rs41529445	missense variant	-	NC_000020.11:g.46011266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr258Ile	RCV000764242	missense variant	Metaphyseal anadysplasia 2 (MANDP2)	NC_000020.11:g.46011266C>T	ClinVar
MMP9	P14780	p.Thr258Ile	RCV000725439	missense variant	-	NC_000020.11:g.46011266C>T	ClinVar
MMP9	P14780	p.Thr259Met	rs200516594	missense variant	-	NC_000020.11:g.46011269C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr259Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46011269C>A	NCI-TCGA
MMP9	P14780	p.Asn261Thr	rs144229833	missense variant	-	NC_000020.11:g.46011275A>C	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asn261Ser	rs144229833	missense variant	-	NC_000020.11:g.46011275A>G	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Tyr262His	rs767027217	missense variant	-	NC_000020.11:g.46011277T>C	ExAC,gnomAD
MMP9	P14780	p.Tyr262Cys	rs148726595	missense variant	-	NC_000020.11:g.46011278A>G	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp263Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46011281A>G	NCI-TCGA
MMP9	P14780	p.Asp263Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46011280G>A	NCI-TCGA
MMP9	P14780	p.Thr264Asn	COSM6093516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011284C>A	NCI-TCGA Cosmic
MMP9	P14780	p.Asp265Tyr	rs1490544892	missense variant	-	NC_000020.11:g.46011286G>T	gnomAD
MMP9	P14780	p.Asp265Asn	rs1490544892	missense variant	-	NC_000020.11:g.46011286G>A	gnomAD
MMP9	P14780	p.Asp266Tyr	rs1181700308	missense variant	-	NC_000020.11:g.46011289G>T	gnomAD
MMP9	P14780	p.Arg267Pro	COSM724412	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011293G>C	NCI-TCGA Cosmic
MMP9	P14780	p.Cys271Tyr	rs1167468050	missense variant	-	NC_000020.11:g.46011305G>A	TOPMed
MMP9	P14780	p.Pro272Leu	rs1476025308	missense variant	-	NC_000020.11:g.46011308C>T	TOPMed
MMP9	P14780	p.Ser273Ile	rs754141166	missense variant	-	NC_000020.11:g.46011311G>T	ExAC,gnomAD
MMP9	P14780	p.Ser273AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46011306C>-	NCI-TCGA
MMP9	P14780	p.Ser273Cys	COSM6093515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011310A>T	NCI-TCGA Cosmic
MMP9	P14780	p.Glu274Asp	rs141318648	missense variant	-	NC_000020.11:g.46011315G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Glu274Lys	rs367601348	missense variant	-	NC_000020.11:g.46011313G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg275Lys	rs1004812364	missense variant	-	NC_000020.11:g.46011574G>A	TOPMed
MMP9	P14780	p.Arg275Ser	rs745651268	missense variant	-	NC_000020.11:g.46011575A>T	ExAC,gnomAD
MMP9	P14780	p.Leu276His	rs1465891923	missense variant	-	NC_000020.11:g.46011577T>A	TOPMed,gnomAD
MMP9	P14780	p.Tyr277Ter	rs1464375443	stop gained	-	NC_000020.11:g.46011581C>A	gnomAD
MMP9	P14780	p.Tyr277His	rs1243534228	missense variant	-	NC_000020.11:g.46011579T>C	gnomAD
MMP9	P14780	p.Gln279Arg	RCV000299484	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46011586A>G	ClinVar
MMP9	P14780	p.Gln279Arg	rs17576	missense variant	-	NC_000020.11:g.46011586A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp280Gly	rs201069467	missense variant	-	NC_000020.11:g.46011589A>G	1000Genomes,TOPMed,gnomAD
MMP9	P14780	p.Gly281Ala	rs1239188179	missense variant	-	NC_000020.11:g.46011592G>C	TOPMed
MMP9	P14780	p.Asn282Lys	rs1475483463	missense variant	-	NC_000020.11:g.46011596T>A	TOPMed,gnomAD
MMP9	P14780	p.Asn282Ser	rs1302967594	missense variant	-	NC_000020.11:g.46011595A>G	TOPMed,gnomAD
MMP9	P14780	p.Ala283Thr	rs760670157	missense variant	-	NC_000020.11:g.46011597G>A	ExAC,gnomAD
MMP9	P14780	p.Asp284Val	rs1380673980	missense variant	-	NC_000020.11:g.46011601A>T	gnomAD
MMP9	P14780	p.Lys286Asn	rs776166662	missense variant	-	NC_000020.11:g.46011608A>C	ExAC
MMP9	P14780	p.Pro287His	rs761471689	missense variant	-	NC_000020.11:g.46011610C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro287Arg	rs761471689	missense variant	-	NC_000020.11:g.46011610C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Cys288Tyr	rs764802271	missense variant	-	NC_000020.11:g.46011613G>A	ExAC,gnomAD
MMP9	P14780	p.Pro291Thr	COSM4835672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011621C>A	NCI-TCGA Cosmic
MMP9	P14780	p.Phe292Cys	rs1319185514	missense variant	-	NC_000020.11:g.46011625T>G	gnomAD
MMP9	P14780	p.Ile293Asn	RCV000729042	missense variant	-	NC_000020.11:g.46011628T>A	ClinVar
MMP9	P14780	p.Ile293Asn	rs201975453	missense variant	-	NC_000020.11:g.46011628T>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ile293Asn	RCV000338113	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46011628T>A	ClinVar
MMP9	P14780	p.Phe294Leu	rs1274371041	missense variant	-	NC_000020.11:g.46011632C>G	gnomAD
MMP9	P14780	p.Gln295Arg	rs766897916	missense variant	-	NC_000020.11:g.46011634A>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gln295Pro	rs766897916	missense variant	-	NC_000020.11:g.46011634A>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly296Ser	rs144098289	missense variant	-	NC_000020.11:g.46011636G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly296Ser	RCV000179448	missense variant	-	NC_000020.11:g.46011636G>A	ClinVar
MMP9	P14780	p.Gln297Arg	rs1429246429	missense variant	-	NC_000020.11:g.46011640A>G	TOPMed
MMP9	P14780	p.Ser298Cys	rs201130620	missense variant	-	NC_000020.11:g.46011643C>G	ExAC,gnomAD
MMP9	P14780	p.Tyr299Asp	rs1206717254	missense variant	-	NC_000020.11:g.46011645T>G	gnomAD
MMP9	P14780	p.Ala301Thr	COSM443923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011651G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Cys302Ter	rs146499495	stop gained	-	NC_000020.11:g.46011656C>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Cys302Ter	RCV000401593	nonsense	Metaphyseal anadysplasia 2 (MANDP2)	NC_000020.11:g.46011656C>A	ClinVar
MMP9	P14780	p.Asp305Asn	rs752834122	missense variant	-	NC_000020.11:g.46011663G>A	ExAC,gnomAD
MMP9	P14780	p.Gly306Arg	rs201344509	missense variant	-	NC_000020.11:g.46011666G>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly306Cys	rs201344509	missense variant	-	NC_000020.11:g.46011666G>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser308Phe	rs1481207494	missense variant	-	NC_000020.11:g.46011673C>T	gnomAD
MMP9	P14780	p.Gly310Arg	rs749575889	missense variant	-	NC_000020.11:g.46011678G>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly310Ser	rs749575889	missense variant	-	NC_000020.11:g.46011678G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Trp313Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46011687T>C	NCI-TCGA
MMP9	P14780	p.Cys314Tyr	rs771735711	missense variant	-	NC_000020.11:g.46011691G>A	ExAC,gnomAD
MMP9	P14780	p.Ala315Ser	rs746936147	missense variant	-	NC_000020.11:g.46011693G>T	ExAC,gnomAD
MMP9	P14780	p.Ala315Thr	rs746936147	missense variant	-	NC_000020.11:g.46011693G>A	ExAC,gnomAD
MMP9	P14780	p.Thr316Ile	rs968482034	missense variant	-	NC_000020.11:g.46011697C>T	TOPMed,gnomAD
MMP9	P14780	p.Ala318Thr	rs776052269	missense variant	-	NC_000020.11:g.46011702G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asn319Ser	rs1284222372	missense variant	-	NC_000020.11:g.46011706A>G	gnomAD
MMP9	P14780	p.Tyr320Asn	rs202151407	missense variant	-	NC_000020.11:g.46011708T>A	1000Genomes,ExAC,gnomAD
MMP9	P14780	p.Asp321Tyr	rs371340871	missense variant	-	NC_000020.11:g.46011711G>T	ESP,ExAC,gnomAD
MMP9	P14780	p.Asp321Asn	rs371340871	missense variant	-	NC_000020.11:g.46011711G>A	ESP,ExAC,gnomAD
MMP9	P14780	p.Arg322Pro	rs959838806	missense variant	-	NC_000020.11:g.46011715G>C	TOPMed,gnomAD
MMP9	P14780	p.Arg322Trp	rs200418910	missense variant	-	NC_000020.11:g.46011714C>T	TOPMed,gnomAD
MMP9	P14780	p.Arg322Gln	COSM419368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46011715G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Asp323Gly	rs762703999	missense variant	-	NC_000020.11:g.46011718A>G	ExAC,gnomAD
MMP9	P14780	p.Lys324Arg	rs1287131775	missense variant	-	NC_000020.11:g.46011721A>G	TOPMed,gnomAD
MMP9	P14780	p.Phe326Leu	rs769668671	missense variant	-	NC_000020.11:g.46011728C>A	ExAC,gnomAD
MMP9	P14780	p.Gly327Ser	rs199569524	missense variant	-	NC_000020.11:g.46011729G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly327Asp	rs752776370	missense variant	-	NC_000020.11:g.46011730G>A	ExAC
MMP9	P14780	p.Gly327Arg	rs199569524	missense variant	-	NC_000020.11:g.46011729G>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Phe328Leu	rs756128837	missense variant	-	NC_000020.11:g.46011734C>A	ExAC,gnomAD
MMP9	P14780	p.Pro330Leu	rs201503729	missense variant	-	NC_000020.11:g.46011739C>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro330Arg	rs201503729	missense variant	-	NC_000020.11:g.46011739C>G	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro330Gln	rs201503729	missense variant	-	NC_000020.11:g.46011739C>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro330Ser	rs777952347	missense variant	-	NC_000020.11:g.46011738C>T	ExAC,gnomAD
MMP9	P14780	p.Thr331Ile	rs1167774814	missense variant	-	NC_000020.11:g.46011742C>T	TOPMed
MMP9	P14780	p.Arg332Gln	rs1163227924	missense variant	-	NC_000020.11:g.46011745G>A	TOPMed,gnomAD
MMP9	P14780	p.Arg332Ter	rs200477815	stop gained	-	NC_000020.11:g.46011744C>T	TOPMed
MMP9	P14780	p.Arg332Gly	rs200477815	missense variant	-	NC_000020.11:g.46011744C>G	TOPMed
MMP9	P14780	p.Ser335Trp	rs199860204	missense variant	-	NC_000020.11:g.46012143C>G	TOPMed,gnomAD
MMP9	P14780	p.Ser335Leu	rs199860204	missense variant	-	NC_000020.11:g.46012143C>T	TOPMed,gnomAD
MMP9	P14780	p.Thr336Met	rs764068837	missense variant	-	NC_000020.11:g.46012146C>T	ExAC,gnomAD
MMP9	P14780	p.Thr336Arg	rs764068837	missense variant	-	NC_000020.11:g.46012146C>G	ExAC,gnomAD
MMP9	P14780	p.Val337Ala	rs199741040	missense variant	-	NC_000020.11:g.46012149T>C	1000Genomes,ExAC,gnomAD
MMP9	P14780	p.Val337Met	rs149701392	missense variant	-	NC_000020.11:g.46012148G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val337Leu	rs149701392	missense variant	-	NC_000020.11:g.46012148G>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly339Arg	rs1488602462	missense variant	-	NC_000020.11:g.46012154G>A	gnomAD
MMP9	P14780	p.Gly339Glu	rs1343892427	missense variant	-	NC_000020.11:g.46012155G>A	gnomAD
MMP9	P14780	p.Gly340Ser	rs1200165936	missense variant	-	NC_000020.11:g.46012157G>A	TOPMed,gnomAD
MMP9	P14780	p.Asn341Asp	rs751305882	missense variant	-	NC_000020.11:g.46012160A>G	ExAC,gnomAD
MMP9	P14780	p.Ser342Leu	rs754744380	missense variant	-	NC_000020.11:g.46012164C>T	ExAC,gnomAD
MMP9	P14780	p.Ser342Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012164C>G	NCI-TCGA
MMP9	P14780	p.Ala343Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012167C>T	NCI-TCGA
MMP9	P14780	p.Gly344Ala	rs748028096	missense variant	-	NC_000020.11:g.46012170G>C	ExAC,gnomAD
MMP9	P14780	p.Glu345Gly	rs1028196273	missense variant	-	NC_000020.11:g.46012173A>G	gnomAD
MMP9	P14780	p.Cys347Ter	rs770663427	stop gained	-	NC_000020.11:g.46012180C>A	ExAC,gnomAD
MMP9	P14780	p.Cys347Tyr	rs145450508	missense variant	-	NC_000020.11:g.46012179G>A	ESP,ExAC,TOPMed
MMP9	P14780	p.Val348Phe	rs1408103367	missense variant	-	NC_000020.11:g.46012181G>T	TOPMed,gnomAD
MMP9	P14780	p.Val348Ile	rs1408103367	missense variant	-	NC_000020.11:g.46012181G>A	TOPMed,gnomAD
MMP9	P14780	p.Pro350Leu	rs745558432	missense variant	-	NC_000020.11:g.46012188C>T	ExAC,gnomAD
MMP9	P14780	p.Pro350Ser	rs774129053	missense variant	-	NC_000020.11:g.46012187C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro350Arg	rs745558432	missense variant	-	NC_000020.11:g.46012188C>G	ExAC,gnomAD
MMP9	P14780	p.Pro350His	COSM4098948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46012188C>A	NCI-TCGA Cosmic
MMP9	P14780	p.Phe351Leu	rs775983105	missense variant	-	NC_000020.11:g.46012190T>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Phe351Ser	rs1403318320	missense variant	-	NC_000020.11:g.46012191T>C	TOPMed
MMP9	P14780	p.Phe351Leu	rs1295678714	missense variant	-	NC_000020.11:g.46012192C>A	gnomAD
MMP9	P14780	p.Lys356Arg	rs1261652427	missense variant	-	NC_000020.11:g.46012206A>G	TOPMed,gnomAD
MMP9	P14780	p.Lys356Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.46012205A>T	NCI-TCGA
MMP9	P14780	p.Lys356Glu	rs200855672	missense variant	-	NC_000020.11:g.46012205A>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Tyr358Cys	rs764667806	missense variant	-	NC_000020.11:g.46012212A>G	ExAC,gnomAD
MMP9	P14780	p.Ser359Trp	rs776534377	missense variant	-	NC_000020.11:g.46012215C>G	ExAC,gnomAD
MMP9	P14780	p.Thr360Asn	rs201995611	missense variant	-	NC_000020.11:g.46012218C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr362Ala	rs765350061	missense variant	-	NC_000020.11:g.46012223A>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser363Arg	rs1426221127	missense variant	-	NC_000020.11:g.46012228C>G	TOPMed
MMP9	P14780	p.Glu364Lys	rs1262533864	missense variant	-	NC_000020.11:g.46012229G>A	gnomAD
MMP9	P14780	p.Gly365Asp	rs750611219	missense variant	-	NC_000020.11:g.46012233G>A	ExAC,gnomAD
MMP9	P14780	p.Gly365Ser	rs1432808686	missense variant	-	NC_000020.11:g.46012232G>A	gnomAD
MMP9	P14780	p.Arg366Gly	rs1431124552	missense variant	-	NC_000020.11:g.46012235C>G	gnomAD
MMP9	P14780	p.Arg366His	rs1197801989	missense variant	-	NC_000020.11:g.46012236G>A	TOPMed
MMP9	P14780	p.Gly367Arg	rs758685219	missense variant	-	NC_000020.11:g.46012238G>C	ExAC,gnomAD
MMP9	P14780	p.Gly367Arg	COSM266947	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46012238G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Gly369Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012244G>T	NCI-TCGA
MMP9	P14780	p.Gly369Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012245G>T	NCI-TCGA
MMP9	P14780	p.Arg370Cys	rs958279746	missense variant	-	NC_000020.11:g.46012247C>T	TOPMed,gnomAD
MMP9	P14780	p.Arg370Ser	rs958279746	missense variant	-	NC_000020.11:g.46012247C>A	TOPMed,gnomAD
MMP9	P14780	p.Trp372Ter	rs1455292512	stop gained	-	NC_000020.11:g.46012255G>A	gnomAD
MMP9	P14780	p.Cys373Trp	rs752547204	missense variant	-	NC_000020.11:g.46012258C>G	ExAC
MMP9	P14780	p.Ala374Ser	rs755934245	missense variant	-	NC_000020.11:g.46012259G>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ala374Thr	rs755934245	missense variant	-	NC_000020.11:g.46012259G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr376Asn	rs777794038	missense variant	-	NC_000020.11:g.46012266C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr376Ile	rs777794038	missense variant	-	NC_000020.11:g.46012266C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser377Leu	rs202242171	missense variant	-	NC_000020.11:g.46012269C>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asn378Lys	rs745505081	missense variant	-	NC_000020.11:g.46012273C>A	ExAC,gnomAD
MMP9	P14780	p.Ser381Thr	rs377610104	missense variant	-	NC_000020.11:g.46012281G>C	ESP,TOPMed
MMP9	P14780	p.Ser381Arg	rs1412397989	missense variant	-	NC_000020.11:g.46012280A>C	gnomAD
MMP9	P14780	p.Ser381Arg	COSM724411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46012282C>A	NCI-TCGA Cosmic
MMP9	P14780	p.Asp382Val	rs771771224	missense variant	-	NC_000020.11:g.46012284A>T	ExAC,gnomAD
MMP9	P14780	p.Asp382His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012283G>C	NCI-TCGA
MMP9	P14780	p.Asp382Asn	COSM1027389	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46012283G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Lys383Arg	rs775650676	missense variant	-	NC_000020.11:g.46012287A>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Trp385Ter	rs1172538806	stop gained	-	NC_000020.11:g.46012294G>A	gnomAD
MMP9	P14780	p.Trp385Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012293G>T	NCI-TCGA
MMP9	P14780	p.Phe387Val	rs1490219180	missense variant	-	NC_000020.11:g.46012298T>G	TOPMed,gnomAD
MMP9	P14780	p.Cys388Tyr	rs1220377464	missense variant	-	NC_000020.11:g.46012302G>A	gnomAD
MMP9	P14780	p.Pro389Leu	rs527613229	missense variant	-	NC_000020.11:g.46012305C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp390Gly	rs1275621092	missense variant	-	NC_000020.11:g.46012308A>G	TOPMed
MMP9	P14780	p.Asp390Tyr	rs201524123	missense variant	-	NC_000020.11:g.46012307G>T	ExAC,gnomAD
MMP9	P14780	p.Gln391Glu	rs1420799907	missense variant	-	NC_000020.11:g.46012310C>G	gnomAD
MMP9	P14780	p.Gln391Arg	rs1159792100	missense variant	-	NC_000020.11:g.46012311A>G	gnomAD
MMP9	P14780	p.Gly392Arg	rs1438885173	missense variant	-	NC_000020.11:g.46012313G>A	TOPMed
MMP9	P14780	p.Gly392Glu	rs763938898	missense variant	-	NC_000020.11:g.46012427G>A	ExAC,gnomAD
MMP9	P14780	p.TyrSer393Ter	rs757078351	stop gained	-	NC_000020.11:g.46012431_46012432del	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser394Thr	rs370515124	missense variant	-	NC_000020.11:g.46012433G>C	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Phe396Leu	rs761777308	missense variant	-	NC_000020.11:g.46012438T>C	ExAC,gnomAD
MMP9	P14780	p.Leu397Pro	rs1301558887	missense variant	-	NC_000020.11:g.46012442T>C	TOPMed
MMP9	P14780	p.Val398Glu	rs765298650	missense variant	-	NC_000020.11:g.46012445T>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val398Met	rs1171543612	missense variant	-	NC_000020.11:g.46012444G>A	gnomAD
MMP9	P14780	p.Val398Gly	rs765298650	missense variant	-	NC_000020.11:g.46012445T>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val398Leu	rs1171543612	missense variant	-	NC_000020.11:g.46012444G>C	gnomAD
MMP9	P14780	p.Ala399Val	rs200590350	missense variant	-	NC_000020.11:g.46012448C>T	TOPMed
MMP9	P14780	p.Ala400Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012450G>A	NCI-TCGA
MMP9	P14780	p.Ala400Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012451C>A	NCI-TCGA
MMP9	P14780	p.His401Leu	rs1384211524	missense variant	-	NC_000020.11:g.46012454A>T	gnomAD
MMP9	P14780	p.His401Gln	rs1398587848	missense variant	-	NC_000020.11:g.46012455T>G	TOPMed
MMP9	P14780	p.Glu402Gln	rs1430059719	missense variant	-	NC_000020.11:g.46012456G>C	gnomAD
MMP9	P14780	p.Phe403Tyr	rs201417784	missense variant	-	NC_000020.11:g.46012460T>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly404Ser	rs751218589	missense variant	-	NC_000020.11:g.46012462G>A	ExAC,gnomAD
MMP9	P14780	p.Gly404Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012462G>T	NCI-TCGA
MMP9	P14780	p.Gly404Asp	COSM4098952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46012463G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Ala406Thr	rs373663809	missense variant	-	NC_000020.11:g.46012468G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ala406Val	rs748513980	missense variant	-	NC_000020.11:g.46012469C>T	ExAC,gnomAD
MMP9	P14780	p.Leu407Arg	rs1190321032	missense variant	-	NC_000020.11:g.46012472T>G	gnomAD
MMP9	P14780	p.Gly408Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012475G>T	NCI-TCGA
MMP9	P14780	p.Asp410His	rs1243400784	missense variant	-	NC_000020.11:g.46012480G>C	gnomAD
MMP9	P14780	p.His411Arg	rs749803246	missense variant	-	NC_000020.11:g.46012484A>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.His411Asn	rs1475532567	missense variant	-	NC_000020.11:g.46012483C>A	gnomAD
MMP9	P14780	p.His411Gln	rs1014120184	missense variant	-	NC_000020.11:g.46012485T>G	TOPMed,gnomAD
MMP9	P14780	p.Ser413Leu	rs1179069895	missense variant	-	NC_000020.11:g.46012490C>T	gnomAD
MMP9	P14780	p.Ser413Pro	rs1479632722	missense variant	-	NC_000020.11:g.46012489T>C	gnomAD
MMP9	P14780	p.Ala417Glu	rs771043300	missense variant	-	NC_000020.11:g.46012502C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ala417Val	rs771043300	missense variant	-	NC_000020.11:g.46012502C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Met419Arg	rs774355160	missense variant	-	NC_000020.11:g.46012508T>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Met419Thr	rs774355160	missense variant	-	NC_000020.11:g.46012508T>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Tyr420Cys	rs1347107674	missense variant	-	NC_000020.11:g.46012511A>G	gnomAD
MMP9	P14780	p.Pro421Ser	rs1285516259	missense variant	-	NC_000020.11:g.46012513C>T	TOPMed
MMP9	P14780	p.Met422Arg	rs201131366	missense variant	-	NC_000020.11:g.46012517T>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Met422Thr	rs201131366	missense variant	-	NC_000020.11:g.46012517T>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Met422Lys	rs201131366	missense variant	-	NC_000020.11:g.46012517T>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Met422Ile	rs1343899909	missense variant	-	NC_000020.11:g.46012518G>A	gnomAD
MMP9	P14780	p.Met422Ile	COSM1027393	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46012518G>T	NCI-TCGA Cosmic
MMP9	P14780	p.Tyr423Cys	rs1225079917	missense variant	-	NC_000020.11:g.46012520A>G	TOPMed,gnomAD
MMP9	P14780	p.Arg424His	rs776529410	missense variant	-	NC_000020.11:g.46012523G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg424Leu	rs776529410	missense variant	-	NC_000020.11:g.46012523G>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg424Cys	rs371768001	missense variant	-	NC_000020.11:g.46012522C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg424Gly	rs371768001	missense variant	-	NC_000020.11:g.46012522C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Phe425Leu	rs761724001	missense variant	-	NC_000020.11:g.46012525T>C	ExAC
MMP9	P14780	p.Glu427Lys	rs765173871	missense variant	-	NC_000020.11:g.46012531G>A	ExAC,gnomAD
MMP9	P14780	p.Gly428Arg	rs773252323	missense variant	-	NC_000020.11:g.46012534G>A	ExAC
MMP9	P14780	p.Pro429Ter	RCV000778632	frameshift	Metaphyseal anadysplasia 2 (MANDP2)	NC_000020.11:g.46012536dup	ClinVar
MMP9	P14780	p.Pro429His	rs146895638	missense variant	-	NC_000020.11:g.46012538C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro429Ser	rs765897608	missense variant	-	NC_000020.11:g.46012537C>T	ExAC,gnomAD
MMP9	P14780	p.Pro429Ala	rs765897608	missense variant	-	NC_000020.11:g.46012537C>G	ExAC,gnomAD
MMP9	P14780	p.Pro429Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46012538C>T	NCI-TCGA
MMP9	P14780	p.Pro430Ser	rs754588801	missense variant	-	NC_000020.11:g.46012540C>T	ExAC,gnomAD
MMP9	P14780	p.Leu431Met	rs1363158579	missense variant	-	NC_000020.11:g.46012543T>A	TOPMed
MMP9	P14780	p.Leu431CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46012533G>-	NCI-TCGA
MMP9	P14780	p.Leu431CysPheSerTerUnk	COSM3294212	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46012537C>-	NCI-TCGA Cosmic
MMP9	P14780	p.His432Tyr	rs1157385301	missense variant	-	NC_000020.11:g.46012546C>T	gnomAD
MMP9	P14780	p.His432Arg	rs548050315	missense variant	-	NC_000020.11:g.46012547A>G	1000Genomes,ExAC
MMP9	P14780	p.His432AlaPheSerTerUnk	rs768099775	frameshift	-	NC_000020.11:g.46012536_46012537insC	NCI-TCGA
MMP9	P14780	p.Asp434Glu	rs1424297375	missense variant	-	NC_000020.11:g.46012554C>A	TOPMed
MMP9	P14780	p.Asp434Ala	rs778180559	missense variant	-	NC_000020.11:g.46012553A>C	ExAC,gnomAD
MMP9	P14780	p.Asp434His	rs199893610	missense variant	-	NC_000020.11:g.46012552G>C	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp434Asn	rs199893610	missense variant	-	NC_000020.11:g.46012552G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly438Ala	rs201169008	missense variant	-	NC_000020.11:g.46012565G>C	ExAC,gnomAD
MMP9	P14780	p.Arg440Gln	rs147960167	missense variant	-	NC_000020.11:g.46012571G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.His441Pro	rs141702644	missense variant	-	NC_000020.11:g.46012574A>C	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.His441Gln	rs1334987603	missense variant	-	NC_000020.11:g.46012575C>G	TOPMed,gnomAD
MMP9	P14780	p.His441Leu	rs141702644	missense variant	-	NC_000020.11:g.46012574A>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Tyr443Cys	rs772372699	missense variant	-	NC_000020.11:g.46012580A>G	ExAC,gnomAD
MMP9	P14780	p.Pro445Leu	rs1389420574	missense variant	-	NC_000020.11:g.46013258C>T	gnomAD
MMP9	P14780	p.Arg446Gly	rs754160543	missense variant	-	NC_000020.11:g.46013260C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg446Cys	rs754160543	missense variant	-	NC_000020.11:g.46013260C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg446His	rs968520149	missense variant	-	NC_000020.11:g.46013261G>A	TOPMed
MMP9	P14780	p.Arg452Gln	rs201191171	missense variant	-	NC_000020.11:g.46013279G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg452Pro	rs201191171	missense variant	-	NC_000020.11:g.46013279G>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg452Trp	rs368282794	missense variant	-	NC_000020.11:g.46013278C>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg452Leu	rs201191171	missense variant	-	NC_000020.11:g.46013279G>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr458Ile	rs747221038	missense variant	-	NC_000020.11:g.46013297C>T	ExAC,gnomAD
MMP9	P14780	p.Pro459Ser	rs147087483	missense variant	-	NC_000020.11:g.46013299C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro459Arg	rs200236055	missense variant	-	NC_000020.11:g.46013300C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro459Leu	rs200236055	missense variant	-	NC_000020.11:g.46013300C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro461Ser	rs1217684867	missense variant	-	NC_000020.11:g.46013305C>T	TOPMed
MMP9	P14780	p.Pro461Leu	rs770850998	missense variant	-	NC_000020.11:g.46013306C>T	ExAC
MMP9	P14780	p.Thr462Met	COSM270850	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46013309C>T	NCI-TCGA Cosmic
MMP9	P14780	p.Ala463Asp	rs759506867	missense variant	-	NC_000020.11:g.46013312C>A	ExAC,gnomAD
MMP9	P14780	p.Ala463Ser	rs372797556	missense variant	-	NC_000020.11:g.46013311G>T	ESP,ExAC,gnomAD
MMP9	P14780	p.Pro464Ser	rs374355049	missense variant	-	NC_000020.11:g.46013314C>T	ExAC,gnomAD
MMP9	P14780	p.Pro464His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013315C>A	NCI-TCGA
MMP9	P14780	p.Pro465Leu	rs774999010	missense variant	-	NC_000020.11:g.46013318C>T	ExAC,gnomAD
MMP9	P14780	p.Pro465ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46013314C>-	NCI-TCGA
MMP9	P14780	p.Thr466Pro	rs760257077	missense variant	-	NC_000020.11:g.46013320A>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr466Met	rs1291812181	missense variant	-	NC_000020.11:g.46013321C>T	gnomAD
MMP9	P14780	p.Thr466Ala	rs760257077	missense variant	-	NC_000020.11:g.46013320A>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val467Phe	rs1169417910	missense variant	-	NC_000020.11:g.46013323G>T	TOPMed,gnomAD
MMP9	P14780	p.Val467Ile	rs1169417910	missense variant	-	NC_000020.11:g.46013323G>A	TOPMed,gnomAD
MMP9	P14780	p.Cys468Tyr	rs201489145	missense variant	-	NC_000020.11:g.46013327G>A	gnomAD
MMP9	P14780	p.Thr470Ser	rs375741446	missense variant	-	NC_000020.11:g.46013333C>G	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr470Pro	rs1384941180	missense variant	-	NC_000020.11:g.46013332A>C	gnomAD
MMP9	P14780	p.Gly471Arg	rs765674753	missense variant	-	NC_000020.11:g.46013335G>A	ExAC,gnomAD
MMP9	P14780	p.Pro472Ala	rs148151404	missense variant	-	NC_000020.11:g.46013338C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro472Ser	rs148151404	missense variant	-	NC_000020.11:g.46013338C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro472Ser	RCV000300785	missense variant	-	NC_000020.11:g.46013338C>T	ClinVar
MMP9	P14780	p.Pro473Thr	rs751692325	missense variant	-	NC_000020.11:g.46013341C>A	ExAC,gnomAD
MMP9	P14780	p.Thr474Asn	rs755208384	missense variant	-	NC_000020.11:g.46013345C>A	ExAC,gnomAD
MMP9	P14780	p.Thr474LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46013338C>-	NCI-TCGA
MMP9	P14780	p.Thr474Pro	COSM3911471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46013344A>C	NCI-TCGA Cosmic
MMP9	P14780	p.Val475Ile	rs781290190	missense variant	-	NC_000020.11:g.46013347G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.His476Arg	rs1201050035	missense variant	-	NC_000020.11:g.46013351A>G	TOPMed,gnomAD
MMP9	P14780	p.Pro477Thr	rs748447770	missense variant	-	NC_000020.11:g.46013353C>A	ExAC,gnomAD
MMP9	P14780	p.Ser478Pro	rs1379158945	missense variant	-	NC_000020.11:g.46013356T>C	TOPMed
MMP9	P14780	p.Arg480Cys	rs1179114145	missense variant	-	NC_000020.11:g.46013362C>T	TOPMed
MMP9	P14780	p.Arg480His	rs770597186	missense variant	-	NC_000020.11:g.46013363G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg480Leu	rs770597186	missense variant	-	NC_000020.11:g.46013363G>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro481Ser	rs1238336258	missense variant	-	NC_000020.11:g.46013365C>T	TOPMed,gnomAD
MMP9	P14780	p.Pro485Ala	rs745751136	missense variant	-	NC_000020.11:g.46013377C>G	ExAC
MMP9	P14780	p.Pro485Leu	rs1479962170	missense variant	-	NC_000020.11:g.46013378C>T	gnomAD
MMP9	P14780	p.Thr486Ile	rs200004905	missense variant	-	NC_000020.11:g.46013381C>T	1000Genomes,ExAC,gnomAD
MMP9	P14780	p.Gly487Val	rs760201819	missense variant	-	NC_000020.11:g.46013384G>T	ExAC,gnomAD
MMP9	P14780	p.Gly487Ser	rs774943876	missense variant	-	NC_000020.11:g.46013383G>A	ExAC,gnomAD
MMP9	P14780	p.Pro488Leu	rs1281260321	missense variant	-	NC_000020.11:g.46013387C>T	TOPMed
MMP9	P14780	p.Pro489Ala	rs776118546	missense variant	-	NC_000020.11:g.46013389C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro489Ala	RCV000180611	missense variant	-	NC_000020.11:g.46013389C>G	ClinVar
MMP9	P14780	p.Ser490Pro	rs201655080	missense variant	-	NC_000020.11:g.46013392T>C	1000Genomes,TOPMed
MMP9	P14780	p.Ser490Thr	rs201655080	missense variant	-	NC_000020.11:g.46013392T>A	1000Genomes,TOPMed
MMP9	P14780	p.Ser490LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46013385_46013386insC	NCI-TCGA
MMP9	P14780	p.Gly495Val	rs200619019	missense variant	-	NC_000020.11:g.46013408G>T	-
MMP9	P14780	p.Pro496Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013410C>T	NCI-TCGA
MMP9	P14780	p.Thr498Ser	rs767022971	missense variant	-	NC_000020.11:g.46013416A>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr503Arg	rs749041567	missense variant	-	NC_000020.11:g.46013432C>G	TOPMed,gnomAD
MMP9	P14780	p.Ala504Asp	rs1490250349	missense variant	-	NC_000020.11:g.46013435C>A	gnomAD
MMP9	P14780	p.Thr505Ile	rs1360140107	missense variant	-	NC_000020.11:g.46013438C>T	TOPMed
MMP9	P14780	p.Pro508Ser	rs756375631	missense variant	-	NC_000020.11:g.46013446C>T	ExAC,gnomAD
MMP9	P14780	p.Pro508Leu	rs778508016	missense variant	-	NC_000020.11:g.46013447C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser510Asn	rs1417499614	missense variant	-	NC_000020.11:g.46013453G>A	TOPMed
MMP9	P14780	p.Pro511Leu	rs1055327031	missense variant	-	NC_000020.11:g.46013456C>T	TOPMed
MMP9	P14780	p.Pro511Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013455C>T	NCI-TCGA
MMP9	P14780	p.Asp513Glu	rs745697857	missense variant	-	NC_000020.11:g.46013463C>G	ExAC,gnomAD
MMP9	P14780	p.Asp514Tyr	rs368234910	missense variant	-	NC_000020.11:g.46013464G>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp514Asn	rs368234910	missense variant	-	NC_000020.11:g.46013464G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Cys516Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013471G>A	NCI-TCGA
MMP9	P14780	p.Asn519Ile	rs1402353204	missense variant	-	NC_000020.11:g.46013480A>T	TOPMed
MMP9	P14780	p.Ile520Leu	rs551960298	missense variant	-	NC_000020.11:g.46013482A>C	1000Genomes
MMP9	P14780	p.Ile520Met	rs1402779800	missense variant	-	NC_000020.11:g.46013484C>G	gnomAD
MMP9	P14780	p.Asp522His	rs1370233833	missense variant	-	NC_000020.11:g.46013488G>C	gnomAD
MMP9	P14780	p.Asp522Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013488G>A	NCI-TCGA
MMP9	P14780	p.Asp522Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013488G>T	NCI-TCGA
MMP9	P14780	p.Asp522Glu	COSM4940001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46013490C>A	NCI-TCGA Cosmic
MMP9	P14780	p.Ala523Val	rs372299611	missense variant	-	NC_000020.11:g.46013492C>T	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ala523Thr	rs1473433072	missense variant	-	NC_000020.11:g.46013491G>A	gnomAD
MMP9	P14780	p.Ile524Thr	rs1038064393	missense variant	-	NC_000020.11:g.46013495T>C	TOPMed
MMP9	P14780	p.Ala525Thr	COSM4098955	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46013497G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Glu526Asp	rs747696251	missense variant	-	NC_000020.11:g.46013502G>T	ExAC,gnomAD
MMP9	P14780	p.Glu526Lys	rs1190319835	missense variant	-	NC_000020.11:g.46013500G>A	TOPMed
MMP9	P14780	p.Ile527Phe	rs1487471521	missense variant	-	NC_000020.11:g.46013503A>T	TOPMed
MMP9	P14780	p.Asn529Lys	rs1248216978	missense variant	-	NC_000020.11:g.46013511C>G	gnomAD
MMP9	P14780	p.Gln530Ter	rs769491153	stop gained	-	NC_000020.11:g.46013512C>T	ExAC,gnomAD
MMP9	P14780	p.Phe534Leu	rs1248244568	missense variant	-	NC_000020.11:g.46013526C>G	gnomAD
MMP9	P14780	p.Lys535Asn	COSM1027395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46013529G>T	NCI-TCGA Cosmic
MMP9	P14780	p.Gly537Glu	rs1420821532	missense variant	-	NC_000020.11:g.46013534G>A	gnomAD
MMP9	P14780	p.Tyr539Cys	rs1332568935	missense variant	-	NC_000020.11:g.46013662A>G	gnomAD
MMP9	P14780	p.Tyr539Ter	rs1382735555	stop gained	-	NC_000020.11:g.46013663C>A	gnomAD
MMP9	P14780	p.Arg541Gln	rs754955508	missense variant	-	NC_000020.11:g.46013668G>A	ExAC,gnomAD
MMP9	P14780	p.Phe542Ser	rs780500313	missense variant	-	NC_000020.11:g.46013671T>C	ExAC,gnomAD
MMP9	P14780	p.Phe542Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013672C>A	NCI-TCGA
MMP9	P14780	p.Arg546Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013683G>A	NCI-TCGA
MMP9	P14780	p.Arg546Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013682A>T	NCI-TCGA
MMP9	P14780	p.Arg549Trp	rs769280932	missense variant	-	NC_000020.11:g.46013691C>T	ExAC,gnomAD
MMP9	P14780	p.Arg549Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013692G>A	NCI-TCGA
MMP9	P14780	p.Pro550Ser	rs772972610	missense variant	-	NC_000020.11:g.46013694C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gln551His	rs748984817	missense variant	-	NC_000020.11:g.46013699G>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Pro553Ala	rs1171325095	missense variant	-	NC_000020.11:g.46013703C>G	TOPMed
MMP9	P14780	p.Pro553Leu	rs926968908	missense variant	-	NC_000020.11:g.46013704C>T	TOPMed,gnomAD
MMP9	P14780	p.Leu555Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013709C>T	NCI-TCGA
MMP9	P14780	p.Ala557Asp	rs771415685	missense variant	-	NC_000020.11:g.46013716C>A	ExAC,gnomAD
MMP9	P14780	p.Asp558Gly	rs150224695	missense variant	-	NC_000020.11:g.46013719A>G	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp558Asn	rs759896847	missense variant	-	NC_000020.11:g.46013718G>A	ExAC,gnomAD
MMP9	P14780	p.Lys559Glu	rs775387047	missense variant	-	NC_000020.11:g.46013721A>G	ExAC,gnomAD
MMP9	P14780	p.Lys559Arg	rs1478981807	missense variant	-	NC_000020.11:g.46013722A>G	gnomAD
MMP9	P14780	p.Trp560Ter	rs138685704	stop gained	-	NC_000020.11:g.46013725G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Trp560Ter	RCV000778633	nonsense	Metaphyseal anadysplasia 2 (MANDP2)	NC_000020.11:g.46013725G>A	ClinVar
MMP9	P14780	p.Pro561Ala	rs141966515	missense variant	-	NC_000020.11:g.46013727C>G	ESP,ExAC,gnomAD
MMP9	P14780	p.Pro561Ser	rs141966515	missense variant	-	NC_000020.11:g.46013727C>T	ESP,ExAC,gnomAD
MMP9	P14780	p.Ala562Thr	rs1468753367	missense variant	-	NC_000020.11:g.46013730G>A	gnomAD
MMP9	P14780	p.Leu563Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013733C>G	NCI-TCGA
MMP9	P14780	p.Pro564Ser	rs1336241913	missense variant	-	NC_000020.11:g.46013736C>T	gnomAD
MMP9	P14780	p.Pro564His	rs1359858475	missense variant	-	NC_000020.11:g.46013737C>A	gnomAD
MMP9	P14780	p.Pro564Leu	rs1359858475	missense variant	-	NC_000020.11:g.46013737C>T	gnomAD
MMP9	P14780	p.Arg565His	rs543335411	missense variant	-	NC_000020.11:g.46013740G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg565Leu	rs543335411	missense variant	-	NC_000020.11:g.46013740G>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg565Gly	rs1430252076	missense variant	-	NC_000020.11:g.46013739C>G	TOPMed,gnomAD
MMP9	P14780	p.Lys566Thr	rs1342647321	missense variant	-	NC_000020.11:g.46013743A>C	gnomAD
MMP9	P14780	p.Lys566Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013743A>G	NCI-TCGA
MMP9	P14780	p.Asp568Asn	rs1282416374	missense variant	-	NC_000020.11:g.46013748G>A	gnomAD
MMP9	P14780	p.Ser569Trp	rs757535139	missense variant	-	NC_000020.11:g.46013752C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser569Ter	rs757535139	stop gained	-	NC_000020.11:g.46013752C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val570Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013755T>C	NCI-TCGA
MMP9	P14780	p.Phe571Val	rs35691798	missense variant	-	NC_000020.11:g.46013757T>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Glu573Asp	rs781210808	missense variant	-	NC_000020.11:g.46013765G>C	ExAC,gnomAD
MMP9	P14780	p.Glu573Lys	rs754829019	missense variant	-	NC_000020.11:g.46013763G>A	ExAC,gnomAD
MMP9	P14780	p.Arg574Gly	rs189827770	missense variant	-	NC_000020.11:g.46013766C>G	1000Genomes,ExAC,gnomAD
MMP9	P14780	p.Arg574Pro	rs2250889	missense variant	-	NC_000020.11:g.46013767G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg574Pro	RCV000381191	missense variant	-	NC_000020.11:g.46013767G>C	ClinVar
MMP9	P14780	p.Arg574Leu	rs2250889	missense variant	-	NC_000020.11:g.46013767G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg574Pro	RCV000270314	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46013767G>C	ClinVar
MMP9	P14780	p.Leu575Pro	rs1194827897	missense variant	-	NC_000020.11:g.46013770T>C	gnomAD
MMP9	P14780	p.Ser576Thr	rs201312492	missense variant	-	NC_000020.11:g.46013772T>A	gnomAD
MMP9	P14780	p.Ser576Cys	rs1005636653	missense variant	-	NC_000020.11:g.46013773C>G	gnomAD
MMP9	P14780	p.Lys577Glu	rs779383755	missense variant	-	NC_000020.11:g.46013775A>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Lys577Arg	rs1038500196	missense variant	-	NC_000020.11:g.46013776A>G	TOPMed,gnomAD
MMP9	P14780	p.Lys577Ter	rs779383755	stop gained	-	NC_000020.11:g.46013775A>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Lys577Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46013777G>T	NCI-TCGA
MMP9	P14780	p.Phe580Cys	rs772374825	missense variant	-	NC_000020.11:g.46013785T>G	ExAC,gnomAD
MMP9	P14780	p.Phe581Leu	COSM3841165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46013789C>A	NCI-TCGA Cosmic
MMP9	P14780	p.Gly584Glu	rs1440345367	missense variant	-	NC_000020.11:g.46014124G>A	gnomAD
MMP9	P14780	p.Gly584Arg	rs1302305656	missense variant	-	NC_000020.11:g.46013796G>C	gnomAD
MMP9	P14780	p.Gln586Ter	rs1467654384	stop gained	-	NC_000020.11:g.46014129C>T	TOPMed
MMP9	P14780	p.Val587Leu	rs1163615651	missense variant	-	NC_000020.11:g.46014132G>C	TOPMed,gnomAD
MMP9	P14780	p.Trp588Ter	rs200746714	stop gained	-	NC_000020.11:g.46014137G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Trp588Ter	RCV000778634	nonsense	Metaphyseal anadysplasia 2 (MANDP2)	NC_000020.11:g.46014137G>A	ClinVar
MMP9	P14780	p.Val589Met	rs1463978877	missense variant	-	NC_000020.11:g.46014138G>A	gnomAD
MMP9	P14780	p.Thr591Arg	rs777357774	missense variant	-	NC_000020.11:g.46014145C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Thr591Ile	rs777357774	missense variant	-	NC_000020.11:g.46014145C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ala593Glu	rs1195441615	missense variant	-	NC_000020.11:g.46014151C>A	TOPMed
MMP9	P14780	p.Ala593Pro	rs1400982177	missense variant	-	NC_000020.11:g.46014150G>C	gnomAD
MMP9	P14780	p.Ser594Pro	rs753432923	missense variant	-	NC_000020.11:g.46014153T>C	ExAC,gnomAD
MMP9	P14780	p.Val595Leu	rs756923113	missense variant	-	NC_000020.11:g.46014156G>T	ExAC,gnomAD
MMP9	P14780	p.Val595Gly	rs1340372819	missense variant	-	NC_000020.11:g.46014157T>G	TOPMed
MMP9	P14780	p.Val595Met	rs756923113	missense variant	-	NC_000020.11:g.46014156G>A	ExAC,gnomAD
MMP9	P14780	p.Pro598Thr	COSM1412134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46014165C>A	NCI-TCGA Cosmic
MMP9	P14780	p.Arg600Pro	rs1285125500	missense variant	-	NC_000020.11:g.46014172G>C	gnomAD
MMP9	P14780	p.Arg600Cys	rs1245154858	missense variant	-	NC_000020.11:g.46014171C>T	gnomAD
MMP9	P14780	p.Arg600His	rs1285125500	missense variant	-	NC_000020.11:g.46014172G>A	gnomAD
MMP9	P14780	p.Leu601Val	rs527990566	missense variant	-	NC_000020.11:g.46014174C>G	1000Genomes,ExAC,gnomAD
MMP9	P14780	p.Leu601Pro	rs1197173954	missense variant	-	NC_000020.11:g.46014175T>C	gnomAD
MMP9	P14780	p.Asp602His	rs576134436	missense variant	-	NC_000020.11:g.46014177G>C	1000Genomes,gnomAD
MMP9	P14780	p.Asp602Asn	rs576134436	missense variant	-	NC_000020.11:g.46014177G>A	1000Genomes,gnomAD
MMP9	P14780	p.Leu604Met	rs1022229675	missense variant	-	NC_000020.11:g.46014183C>A	gnomAD
MMP9	P14780	p.Gly605Ser	rs1425748017	missense variant	-	NC_000020.11:g.46014186G>A	gnomAD
MMP9	P14780	p.Gly607Ter	rs543571388	stop gained	-	NC_000020.11:g.46014192G>T	1000Genomes
MMP9	P14780	p.Ala608Thr	rs1424180816	missense variant	-	NC_000020.11:g.46014195G>A	gnomAD
MMP9	P14780	p.Asp609Asn	rs1300564395	missense variant	-	NC_000020.11:g.46014198G>A	gnomAD
MMP9	P14780	p.Val610Leu	rs765708300	missense variant	-	NC_000020.11:g.46014201G>T	ExAC,gnomAD
MMP9	P14780	p.Val610Leu	rs765708300	missense variant	-	NC_000020.11:g.46014201G>C	ExAC,gnomAD
MMP9	P14780	p.Ala611Asp	rs1396232490	missense variant	-	NC_000020.11:g.46014205C>A	gnomAD
MMP9	P14780	p.Gln612Ter	rs1338012680	stop gained	-	NC_000020.11:g.46014207C>T	gnomAD
MMP9	P14780	p.Gln612Leu	rs1217117967	missense variant	-	NC_000020.11:g.46014208A>T	TOPMed,gnomAD
MMP9	P14780	p.Gln612Arg	rs1217117967	missense variant	-	NC_000020.11:g.46014208A>G	TOPMed,gnomAD
MMP9	P14780	p.Val613Leu	rs1319203113	missense variant	-	NC_000020.11:g.46014210G>C	gnomAD
MMP9	P14780	p.Val613Met	rs1319203113	missense variant	-	NC_000020.11:g.46014210G>A	gnomAD
MMP9	P14780	p.Thr614Ala	rs1254306737	missense variant	-	NC_000020.11:g.46014213A>G	gnomAD
MMP9	P14780	p.Gly615Glu	rs1261219645	missense variant	-	NC_000020.11:g.46014217G>A	TOPMed,gnomAD
MMP9	P14780	p.Gly615Trp	rs573936612	missense variant	-	NC_000020.11:g.46014216G>T	1000Genomes,TOPMed,gnomAD
MMP9	P14780	p.Gly615Arg	rs573936612	missense variant	-	NC_000020.11:g.46014216G>A	1000Genomes,TOPMed,gnomAD
MMP9	P14780	p.Gly615Val	rs1261219645	missense variant	-	NC_000020.11:g.46014217G>T	TOPMed,gnomAD
MMP9	P14780	p.Ala616Val	rs1485659654	missense variant	-	NC_000020.11:g.46014220C>T	gnomAD
MMP9	P14780	p.Ala616Thr	rs1487439307	missense variant	-	NC_000020.11:g.46014219G>A	gnomAD
MMP9	P14780	p.Ala616Ser	rs1487439307	missense variant	-	NC_000020.11:g.46014219G>T	gnomAD
MMP9	P14780	p.Leu617His	rs541487643	missense variant	-	NC_000020.11:g.46014223T>A	1000Genomes,TOPMed,gnomAD
MMP9	P14780	p.Leu617Pro	rs541487643	missense variant	-	NC_000020.11:g.46014223T>C	1000Genomes,TOPMed,gnomAD
MMP9	P14780	p.Arg618Trp	rs960442345	missense variant	-	NC_000020.11:g.46014225C>T	gnomAD
MMP9	P14780	p.Arg618Gln	rs761902475	missense variant	-	NC_000020.11:g.46014226G>A	ExAC,gnomAD
MMP9	P14780	p.Ser619Asn	rs1173928961	missense variant	-	NC_000020.11:g.46014229G>A	gnomAD
MMP9	P14780	p.Gly620Asp	rs990563451	missense variant	-	NC_000020.11:g.46014232G>A	gnomAD
MMP9	P14780	p.Gly620Val	rs990563451	missense variant	-	NC_000020.11:g.46014232G>T	gnomAD
MMP9	P14780	p.Arg621Gly	rs1466072965	missense variant	-	NC_000020.11:g.46014234A>G	gnomAD
MMP9	P14780	p.Arg621Trp	rs1466072965	missense variant	-	NC_000020.11:g.46014234A>T	gnomAD
MMP9	P14780	p.Arg621Lys	rs6104428	missense variant	-	NC_000020.11:g.46014235G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg621Thr	rs6104428	missense variant	-	NC_000020.11:g.46014235G>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly622Arg	rs773448293	missense variant	-	NC_000020.11:g.46014237G>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Met624Ile	rs1300400001	missense variant	-	NC_000020.11:g.46014245G>A	gnomAD
MMP9	P14780	p.Phe627Leu	rs1341573154	missense variant	-	NC_000020.11:g.46014254C>G	gnomAD
MMP9	P14780	p.Ser628Asn	rs767327895	missense variant	-	NC_000020.11:g.46014256G>A	ExAC
MMP9	P14780	p.Gly629Ala	rs1299768724	missense variant	-	NC_000020.11:g.46014259G>C	gnomAD
MMP9	P14780	p.Gly629Arg	rs559776843	missense variant	-	NC_000020.11:g.46014258G>C	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gly629Arg	rs559776843	missense variant	-	NC_000020.11:g.46014258G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg630Trp	rs1233986311	missense variant	-	NC_000020.11:g.46014261C>T	TOPMed,gnomAD
MMP9	P14780	p.Arg631Ser	rs201280938	missense variant	-	NC_000020.11:g.46014264C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg631His	rs1351778542	missense variant	-	NC_000020.11:g.46014265G>A	TOPMed,gnomAD
MMP9	P14780	p.Arg631Cys	rs201280938	missense variant	-	NC_000020.11:g.46014264C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg631Ser	RCV000384681	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46014264C>A	ClinVar
MMP9	P14780	p.Arg631Ser	RCV000733684	missense variant	-	NC_000020.11:g.46014264C>A	ClinVar
MMP9	P14780	p.Leu632Phe	rs1275331861	missense variant	-	NC_000020.11:g.46014267C>T	TOPMed
MMP9	P14780	p.Trp633Ter	rs1490112187	stop gained	-	NC_000020.11:g.46014270_46014271insA	TOPMed,gnomAD
MMP9	P14780	p.Arg634Lys	rs753879807	missense variant	-	NC_000020.11:g.46014274G>A	ExAC,gnomAD
MMP9	P14780	p.Val637Met	rs1449008686	missense variant	-	NC_000020.11:g.46014378G>A	gnomAD
MMP9	P14780	p.Val637Leu	rs1449008686	missense variant	-	NC_000020.11:g.46014378G>C	gnomAD
MMP9	P14780	p.Ala639Val	rs1378687282	missense variant	-	NC_000020.11:g.46014385C>T	TOPMed,gnomAD
MMP9	P14780	p.Asp643Asn	rs1322040806	missense variant	-	NC_000020.11:g.46014396G>A	gnomAD
MMP9	P14780	p.Pro644Arg	rs1197786653	missense variant	-	NC_000020.11:g.46014400C>G	gnomAD
MMP9	P14780	p.Pro644His	rs1197786653	missense variant	-	NC_000020.11:g.46014400C>A	gnomAD
MMP9	P14780	p.Arg645Gln	rs1039833998	missense variant	-	NC_000020.11:g.46014403G>A	TOPMed
MMP9	P14780	p.Arg645Trp	rs1256036447	missense variant	-	NC_000020.11:g.46014402C>T	gnomAD
MMP9	P14780	p.Ser646Gly	rs1198701842	missense variant	-	NC_000020.11:g.46014405A>G	gnomAD
MMP9	P14780	p.Ser646Arg	rs748693804	missense variant	-	NC_000020.11:g.46014407C>G	ExAC,gnomAD
MMP9	P14780	p.Ser646Asn	rs1236427613	missense variant	-	NC_000020.11:g.46014406G>A	gnomAD
MMP9	P14780	p.Ala647Thr	rs1183294686	missense variant	-	NC_000020.11:g.46014408G>A	gnomAD
MMP9	P14780	p.Ser648Arg	rs201553146	missense variant	-	NC_000020.11:g.46014413C>A	gnomAD
MMP9	P14780	p.Asp651Asn	rs1424689310	missense variant	-	NC_000020.11:g.46014420G>A	gnomAD
MMP9	P14780	p.Arg652Trp	rs199533749	missense variant	-	NC_000020.11:g.46014423C>T	gnomAD
MMP9	P14780	p.Arg652Gln	rs905276176	missense variant	-	NC_000020.11:g.46014424G>A	TOPMed,gnomAD
MMP9	P14780	p.Pro655Ser	rs1358717510	missense variant	-	NC_000020.11:g.46014432C>T	gnomAD
MMP9	P14780	p.Pro655Leu	rs531026399	missense variant	-	NC_000020.11:g.46014433C>T	1000Genomes,gnomAD
MMP9	P14780	p.Gly656Glu	rs1304741777	missense variant	-	NC_000020.11:g.46014436G>A	gnomAD
MMP9	P14780	p.Val657Ala	rs200684686	missense variant	-	NC_000020.11:g.46014439T>C	gnomAD
MMP9	P14780	p.Thr661Ala	rs1276124546	missense variant	-	NC_000020.11:g.46014450A>G	gnomAD
MMP9	P14780	p.His662Gln	rs1219244909	missense variant	-	NC_000020.11:g.46014455C>A	TOPMed,gnomAD
MMP9	P14780	p.His662Tyr	rs1319874415	missense variant	-	NC_000020.11:g.46014453C>T	gnomAD
MMP9	P14780	p.Val664Ile	rs1277278430	missense variant	-	NC_000020.11:g.46014459G>A	gnomAD
MMP9	P14780	p.Gln666His	rs1309871164	missense variant	-	NC_000020.11:g.46014467G>T	gnomAD
MMP9	P14780	p.Arg668Gln	rs17577	missense variant	-	NC_000020.11:g.46014472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg668Gly	rs902431501	missense variant	-	NC_000020.11:g.46014471C>G	TOPMed,gnomAD
MMP9	P14780	p.Arg668Gln	RCV000728386	missense variant	-	NC_000020.11:g.46014472G>A	ClinVar
MMP9	P14780	p.Arg668Gln	RCV000271562	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46014472G>A	ClinVar
MMP9	P14780	p.Arg668Gly	RCV000592237	missense variant	-	NC_000020.11:g.46014471C>G	ClinVar
MMP9	P14780	p.Arg668Pro	rs17577	missense variant	-	NC_000020.11:g.46014472G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg668Ter	rs902431501	stop gained	-	NC_000020.11:g.46014471C>T	TOPMed,gnomAD
MMP9	P14780	p.Glu669Lys	rs1487768526	missense variant	-	NC_000020.11:g.46014474G>A	gnomAD
MMP9	P14780	p.Glu669Asp	COSM1027399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46016251G>T	NCI-TCGA Cosmic
MMP9	P14780	p.Tyr672Phe	rs201258058	missense variant	-	NC_000020.11:g.46016259A>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Phe673Leu	rs748636725	missense variant	-	NC_000020.11:g.46016263C>A	ExAC,gnomAD
MMP9	P14780	p.Cys674Tyr	rs1206068410	missense variant	-	NC_000020.11:g.46016265G>A	gnomAD
MMP9	P14780	p.Cys674Gly	rs756588901	missense variant	-	NC_000020.11:g.46016264T>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp676Asn	rs1450391556	missense variant	-	NC_000020.11:g.46016270G>A	gnomAD
MMP9	P14780	p.Arg677Ser	rs202215075	missense variant	-	NC_000020.11:g.46016273C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg677Cys	rs202215075	missense variant	-	NC_000020.11:g.46016273C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg677His	rs200118434	missense variant	-	NC_000020.11:g.46016274G>A	-
MMP9	P14780	p.Trp680Ter	COSM4098958	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46016284G>A	NCI-TCGA Cosmic
MMP9	P14780	p.Arg681Gly	rs771094559	missense variant	-	NC_000020.11:g.46016285C>G	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg681His	rs774687719	missense variant	-	NC_000020.11:g.46016286G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg681His	RCV000321690	missense variant	Metaphyseal anadysplasia	NC_000020.11:g.46016286G>A	ClinVar
MMP9	P14780	p.Arg681Cys	rs771094559	missense variant	-	NC_000020.11:g.46016285C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val682Met	rs137904662	missense variant	-	NC_000020.11:g.46016288G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val682Leu	rs137904662	missense variant	-	NC_000020.11:g.46016288G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser683Thr	rs1369630811	missense variant	-	NC_000020.11:g.46016292G>C	gnomAD
MMP9	P14780	p.Arg685Trp	rs765120002	missense variant	-	NC_000020.11:g.46016297C>T	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Arg685Gln	rs772727216	missense variant	-	NC_000020.11:g.46016298G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Ser686Asn	rs151173908	missense variant	-	NC_000020.11:g.46016301G>A	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Glu687Gln	rs374780254	missense variant	-	NC_000020.11:g.46016303G>C	ESP,ExAC,TOPMed,gnomAD
MMP9	P14780	p.Glu687Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46016303G>A	NCI-TCGA
MMP9	P14780	p.Leu688Ser	rs751208103	missense variant	-	NC_000020.11:g.46016307T>C	ExAC,gnomAD
MMP9	P14780	p.Asn689Ile	rs759241136	missense variant	-	NC_000020.11:g.46016310A>T	ExAC,gnomAD
MMP9	P14780	p.Val691Met	rs767808980	missense variant	-	NC_000020.11:g.46016315G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val691Leu	rs767808980	missense variant	-	NC_000020.11:g.46016315G>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Val691Ala	rs201112388	missense variant	-	NC_000020.11:g.46016316T>C	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp692His	rs756600684	missense variant	-	NC_000020.11:g.46016318G>C	ExAC,gnomAD
MMP9	P14780	p.Gln693Arg	rs778121963	missense variant	-	NC_000020.11:g.46016322A>G	ExAC,gnomAD
MMP9	P14780	p.Val697Met	rs111366278	missense variant	-	NC_000020.11:g.46016333G>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Asp700Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46016343A>T	NCI-TCGA
MMP9	P14780	p.Gln703Lys	rs199677423	missense variant	-	NC_000020.11:g.46016351C>A	ExAC,TOPMed,gnomAD
MMP9	P14780	p.Gln703His	rs1240143691	missense variant	-	NC_000020.11:g.46016353G>T	gnomAD
MMP9	P14780	p.Gln703His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46016353G>C	NCI-TCGA
MMP9	P14780	p.Cys704Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46016355G>T	NCI-TCGA
MMP9	P14780	p.Asp707Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46016363G>A	NCI-TCGA
MMP9	P14780	p.Asp707Glu	COSM724406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46016365C>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Met1Val	RCV000427429	missense variant	-	NC_000011.10:g.72192174A>G	ClinVar
FOLR1	P15328	p.Ala2Pro	rs1269450657	missense variant	-	NC_000011.10:g.72192177G>C	TOPMed
FOLR1	P15328	p.Gln3Arg	rs1261674339	missense variant	-	NC_000011.10:g.72192181A>G	gnomAD
FOLR1	P15328	p.Arg4Gln	RCV000487548	missense variant	-	NC_000011.10:g.72192184G>A	ClinVar
FOLR1	P15328	p.Arg4Gln	rs145380453	missense variant	-	NC_000011.10:g.72192184G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg4Leu	rs145380453	missense variant	-	NC_000011.10:g.72192184G>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg4Trp	rs112062510	missense variant	-	NC_000011.10:g.72192183C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met5Val	RCV000793516	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192186A>G	ClinVar
FOLR1	P15328	p.Met5Val	RCV000723894	missense variant	-	NC_000011.10:g.72192186A>G	ClinVar
FOLR1	P15328	p.Met5Ile	rs529913828	missense variant	-	NC_000011.10:g.72192188G>A	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Met5Val	rs371565364	missense variant	-	NC_000011.10:g.72192186A>G	1000Genomes,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr6Ile	rs1159477597	missense variant	-	NC_000011.10:g.72192190C>T	TOPMed,gnomAD
FOLR1	P15328	p.Gln8Lys	rs770851094	missense variant	-	NC_000011.10:g.72192195C>A	ExAC,gnomAD
FOLR1	P15328	p.Leu11Phe	rs943751173	missense variant	-	NC_000011.10:g.72192204C>T	TOPMed
FOLR1	P15328	p.Leu12Ter	RCV000596318	frameshift	-	NC_000011.10:g.72192207del	ClinVar
FOLR1	P15328	p.Leu13Pro	rs776579195	missense variant	-	NC_000011.10:g.72192211T>C	ExAC,gnomAD
FOLR1	P15328	p.Val14Ala	rs1288175012	missense variant	-	NC_000011.10:g.72192214T>C	gnomAD
FOLR1	P15328	p.Trp15Gly	rs1379767616	missense variant	-	NC_000011.10:g.72192216T>G	gnomAD
FOLR1	P15328	p.Trp15Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72192216T>C	NCI-TCGA
FOLR1	P15328	p.Trp15Cys	rs200261943	missense variant	-	NC_000011.10:g.72192218G>T	1000Genomes,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gly20Ala	RCV000520315	missense variant	-	NC_000011.10:g.72192232G>C	ClinVar
FOLR1	P15328	p.Gly20Arg	rs774539100	missense variant	-	NC_000011.10:g.72192231G>A	ExAC,gnomAD
FOLR1	P15328	p.Gly20Ala	rs566120497	missense variant	-	NC_000011.10:g.72192232G>C	1000Genomes,TOPMed
FOLR1	P15328	p.Gly20Glu	rs566120497	missense variant	-	NC_000011.10:g.72192232G>A	1000Genomes,TOPMed
FOLR1	P15328	p.Gly20Arg	rs774539100	missense variant	-	NC_000011.10:g.72192231G>C	ExAC,gnomAD
FOLR1	P15328	p.Glu21Lys	rs1240345211	missense variant	-	NC_000011.10:g.72192234G>A	gnomAD
FOLR1	P15328	p.Glu21ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.72192231G>-	NCI-TCGA
FOLR1	P15328	p.Ala22Val	RCV000716016	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72192238C>T	ClinVar
FOLR1	P15328	p.Gln23Ter	COSM458404	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.72192240C>T	NCI-TCGA Cosmic
FOLR1	P15328	p.Thr24Ile	rs1038476253	missense variant	-	NC_000011.10:g.72192244C>T	TOPMed,gnomAD
FOLR1	P15328	p.Ala27Gly	rs762158226	missense variant	-	NC_000011.10:g.72192253C>G	ExAC,TOPMed
FOLR1	P15328	p.Trp28Ter	COSM4560355	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.72192256G>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Trp28Arg	rs7928649	missense variant	-	NC_000011.10:g.72192255T>C	UniProt,dbSNP
FOLR1	P15328	p.Trp28Arg	VAR_059284	missense variant	-	NC_000011.10:g.72192255T>C	UniProt
FOLR1	P15328	p.Trp28Arg	rs7928649	missense variant	-	NC_000011.10:g.72192255T>C	-
FOLR1	P15328	p.Thr31Ile	rs1304635865	missense variant	-	NC_000011.10:g.72192265C>T	TOPMed,gnomAD
FOLR1	P15328	p.Thr31Ser	rs1304635865	missense variant	-	NC_000011.10:g.72192265C>G	TOPMed,gnomAD
FOLR1	P15328	p.Glu32Ala	COSM4920626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72192268A>C	NCI-TCGA Cosmic
FOLR1	P15328	p.Asn35Asp	rs149216939	missense variant	-	NC_000011.10:g.72192276A>G	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Asn35Asp	RCV000556042	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192276A>G	ClinVar
FOLR1	P15328	p.Met38Leu	rs1483857647	missense variant	-	NC_000011.10:g.72192285A>C	TOPMed,gnomAD
FOLR1	P15328	p.Met38Ile	rs1241611500	missense variant	-	NC_000011.10:g.72192287G>A	gnomAD
FOLR1	P15328	p.Met38Val	rs1483857647	missense variant	-	NC_000011.10:g.72192285A>G	TOPMed,gnomAD
FOLR1	P15328	p.Met38Lys	rs750562595	missense variant	-	NC_000011.10:g.72192286T>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met38Thr	rs750562595	missense variant	-	NC_000011.10:g.72192286T>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Asn39Tyr	rs1477467941	missense variant	-	NC_000011.10:g.72192288A>T	TOPMed
FOLR1	P15328	p.Ala40Thr	rs766928917	missense variant	-	NC_000011.10:g.72192291G>A	ExAC,gnomAD
FOLR1	P15328	p.His42Tyr	rs754414177	missense variant	-	NC_000011.10:g.72192297C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.His42Asn	rs754414177	missense variant	-	NC_000011.10:g.72192297C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu45Lys	COSM3452975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72192306G>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Pro47Ala	RCV000647365	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192312C>G	ClinVar
FOLR1	P15328	p.Pro47Ala	rs1555068662	missense variant	-	NC_000011.10:g.72192312C>G	-
FOLR1	P15328	p.Gly48Asp	rs1470914938	missense variant	-	NC_000011.10:g.72192316G>A	gnomAD
FOLR1	P15328	p.Glu50Lys	rs1488460520	missense variant	-	NC_000011.10:g.72192321G>A	TOPMed
FOLR1	P15328	p.Asp51Asn	rs777311664	missense variant	-	NC_000011.10:g.72192324G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu55Lys	rs1370692247	missense variant	-	NC_000011.10:g.72192336G>A	TOPMed,gnomAD
FOLR1	P15328	p.Cys57Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195271T>A	NCI-TCGA
FOLR1	P15328	p.Arg58Ter	rs763735285	stop gained	-	NC_000011.10:g.72195274C>T	ExAC,gnomAD
FOLR1	P15328	p.Arg58Gln	rs138575051	missense variant	-	NC_000011.10:g.72195275G>A	1000Genomes,gnomAD
FOLR1	P15328	p.Pro59Arg	rs1275551543	missense variant	-	NC_000011.10:g.72195278C>G	gnomAD
FOLR1	P15328	p.Trp60Leu	rs751184313	missense variant	-	NC_000011.10:g.72195281G>T	ExAC,gnomAD
FOLR1	P15328	p.Trp60Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.72195282G>A	NCI-TCGA
FOLR1	P15328	p.Ala64Thr	COSM1322190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195292G>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Ala64Asp	rs1365926784	missense variant	-	NC_000011.10:g.72195293C>A	TOPMed
FOLR1	P15328	p.Ala64Ser	RCV000493078	missense variant	-	NC_000011.10:g.72195292G>T	ClinVar
FOLR1	P15328	p.Ala64Ser	rs1131691637	missense variant	-	NC_000011.10:g.72195292G>T	gnomAD
FOLR1	P15328	p.Cys65Trp	rs1247541422	missense variant	-	NC_000011.10:g.72195297C>G	gnomAD
FOLR1	P15328	p.Cys65Tyr	rs1335969248	missense variant	-	NC_000011.10:g.72195296G>A	TOPMed
FOLR1	P15328	p.Cys66Tyr	rs779015471	missense variant	-	NC_000011.10:g.72195299G>A	ExAC,gnomAD
FOLR1	P15328	p.Asn69Asp	rs780742785	missense variant	-	NC_000011.10:g.72195307A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln72Arg	RCV000723981	missense variant	-	NC_000011.10:g.72195317A>G	ClinVar
FOLR1	P15328	p.Gln72Arg	rs148345688	missense variant	-	NC_000011.10:g.72195317A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln72His	rs756090881	missense variant	-	NC_000011.10:g.72195318G>T	ExAC
FOLR1	P15328	p.Glu73Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195320A>C	NCI-TCGA
FOLR1	P15328	p.Ala74Thr	rs779986083	missense variant	-	NC_000011.10:g.72195322G>A	ExAC,gnomAD
FOLR1	P15328	p.His75Gln	rs749048689	missense variant	-	NC_000011.10:g.72195327T>A	ExAC,gnomAD
FOLR1	P15328	p.Asp77Asn	COSM3452977	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195331G>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Val78Ile	rs1417053720	missense variant	-	NC_000011.10:g.72195334G>A	gnomAD
FOLR1	P15328	p.Tyr82His	rs950917027	missense variant	-	NC_000011.10:g.72195346T>C	TOPMed,gnomAD
FOLR1	P15328	p.Phe84Leu	rs1005890697	missense variant	-	NC_000011.10:g.72195354C>A	TOPMed
FOLR1	P15328	p.Trp86Arg	rs1409176806	missense variant	-	NC_000011.10:g.72195358T>C	gnomAD
FOLR1	P15328	p.Trp86Ter	RCV000533599	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195359G>A	ClinVar
FOLR1	P15328	p.Trp86Ter	rs1555069069	stop gained	-	NC_000011.10:g.72195359G>A	-
FOLR1	P15328	p.His88Tyr	rs1367019932	missense variant	-	NC_000011.10:g.72195364C>T	gnomAD
FOLR1	P15328	p.His88Leu	rs773474550	missense variant	-	NC_000011.10:g.72195365A>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gly90Arg	COSM3452978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195370G>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Glu91Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195374A>T	NCI-TCGA
FOLR1	P15328	p.Met92Val	rs771104939	missense variant	-	NC_000011.10:g.72195376A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala93Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195379G>A	NCI-TCGA
FOLR1	P15328	p.Pro94Arg	RCV000187418	missense variant	-	NC_000011.10:g.72195383C>G	ClinVar
FOLR1	P15328	p.Pro94Arg	RCV000716070	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195383C>G	ClinVar
FOLR1	P15328	p.Pro94Arg	rs759712157	missense variant	-	NC_000011.10:g.72195383C>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys96Ter	COSM3416211	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.72195390C>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Cys96Tyr	rs1057518816	missense variant	-	NC_000011.10:g.72195389G>A	-
FOLR1	P15328	p.Cys96Tyr	RCV000415252	missense variant	-	NC_000011.10:g.72195389G>A	ClinVar
FOLR1	P15328	p.Cys96Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195389G>C	NCI-TCGA
FOLR1	P15328	p.Lys97Asn	rs775864895	missense variant	-	NC_000011.10:g.72195393A>T	ExAC,gnomAD
FOLR1	P15328	p.Arg98Trp	rs76191655	missense variant	-	NC_000011.10:g.72195394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg98Trp	RCV000487848	missense variant	-	NC_000011.10:g.72195394C>T	ClinVar
FOLR1	P15328	p.Arg98Gln	rs764420714	missense variant	-	NC_000011.10:g.72195395G>A	ExAC,gnomAD
FOLR1	P15328	p.Asp103Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195409G>A	NCI-TCGA
FOLR1	P15328	p.Asp103Ala	rs751220498	missense variant	-	NC_000011.10:g.72195410A>C	ExAC
FOLR1	P15328	p.Thr104Pro	rs756942461	missense variant	-	NC_000011.10:g.72195412A>C	ExAC,gnomAD
FOLR1	P15328	p.Thr104Asn	rs766989831	missense variant	-	NC_000011.10:g.72195413C>A	ExAC,gnomAD
FOLR1	P15328	p.Cys105Phe	RCV000376883	missense variant	-	NC_000011.10:g.72195416G>T	ClinVar
FOLR1	P15328	p.Cys105Phe	rs755627957	missense variant	-	NC_000011.10:g.72195416G>T	ExAC,gnomAD
FOLR1	P15328	p.Leu106Pro	rs1386926475	missense variant	-	NC_000011.10:g.72195419T>C	gnomAD
FOLR1	P15328	p.Tyr107Ter	rs145674759	stop gained	-	NC_000011.10:g.72195423C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu108Lys	RCV000524015	missense variant	-	NC_000011.10:g.72195424G>A	ClinVar
FOLR1	P15328	p.Glu108Lys	rs1555069113	missense variant	-	NC_000011.10:g.72195424G>A	-
FOLR1	P15328	p.Asn112Ser	rs1325172613	missense variant	-	NC_000011.10:g.72195437A>G	gnomAD
FOLR1	P15328	p.Asn112Ser	RCV000623117	missense variant	Inborn genetic diseases	NC_000011.10:g.72195437A>G	ClinVar
FOLR1	P15328	p.Pro115Ser	rs749242260	missense variant	-	NC_000011.10:g.72195445C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Trp116Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.72195450G>A	NCI-TCGA
FOLR1	P15328	p.Gln118Ter	rs121918405	stop gained	-	NC_000011.10:g.72195454C>T	gnomAD
FOLR1	P15328	p.Gln118Ter	RCV000017643	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195454C>T	ClinVar
FOLR1	P15328	p.Gln118Ter	RCV000725453	nonsense	-	NC_000011.10:g.72195454C>T	ClinVar
FOLR1	P15328	p.Gln122Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.72195618C>T	NCI-TCGA
FOLR1	P15328	p.Ser123Asn	rs886568002	missense variant	-	NC_000011.10:g.72195622G>A	TOPMed
FOLR1	P15328	p.Trp124Arg	rs1264956352	missense variant	-	NC_000011.10:g.72195624T>C	gnomAD
FOLR1	P15328	p.Arg125Cys	rs752503322	missense variant	-	NC_000011.10:g.72195627C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg125His	rs1202769307	missense variant	-	NC_000011.10:g.72195628G>A	gnomAD
FOLR1	P15328	p.Glu127Lys	rs138331534	missense variant	-	NC_000011.10:g.72195633G>A	ESP,TOPMed
FOLR1	P15328	p.Glu127Gly	rs964480401	missense variant	-	NC_000011.10:g.72195634A>G	TOPMed,gnomAD
FOLR1	P15328	p.Arg128Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195637G>T	NCI-TCGA
FOLR1	P15328	p.Arg128Trp	rs200728335	missense variant	-	NC_000011.10:g.72195636C>T	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Arg128Gln	rs996350831	missense variant	-	NC_000011.10:g.72195637G>A	TOPMed
FOLR1	P15328	p.Val129Ile	rs142717163	missense variant	-	NC_000011.10:g.72195639G>A	ESP,ExAC,gnomAD
FOLR1	P15328	p.Leu130Met	COSM931655	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195642C>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Leu130Arg	rs1177732628	missense variant	-	NC_000011.10:g.72195643T>G	gnomAD
FOLR1	P15328	p.Asn131Asp	rs1029995293	missense variant	-	NC_000011.10:g.72195645A>G	TOPMed,gnomAD
FOLR1	P15328	p.Val132Leu	rs749779274	missense variant	-	NC_000011.10:g.72195648G>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Val132Met	rs749779274	missense variant	-	NC_000011.10:g.72195648G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys135Arg	rs774868210	missense variant	-	NC_000011.10:g.72195657T>C	ExAC,gnomAD
FOLR1	P15328	p.Lys136ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.72195660_72195661AA>-	NCI-TCGA
FOLR1	P15328	p.Glu137Lys	rs762109657	missense variant	-	NC_000011.10:g.72195663G>A	ExAC,gnomAD
FOLR1	P15328	p.Glu137Asp	rs796052441	missense variant	-	NC_000011.10:g.72195665G>C	TOPMed,gnomAD
FOLR1	P15328	p.Asp138Asn	RCV000187420	missense variant	-	NC_000011.10:g.72195666G>A	ClinVar
FOLR1	P15328	p.Asp138Asn	rs796052442	missense variant	-	NC_000011.10:g.72195666G>A	-
FOLR1	P15328	p.Cys139Gly	rs772484521	missense variant	-	NC_000011.10:g.72195669T>G	ExAC,gnomAD
FOLR1	P15328	p.Trp142Ter	rs772848165	stop gained	-	NC_000011.10:g.72195679G>A	ExAC
FOLR1	P15328	p.Glu144Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195684G>A	NCI-TCGA
FOLR1	P15328	p.Asp145Gly	rs1224242224	missense variant	-	NC_000011.10:g.72195688A>G	gnomAD
FOLR1	P15328	p.Cys146Ter	rs765895524	stop gained	-	NC_000011.10:g.72195692T>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg147Cys	rs1222897077	missense variant	-	NC_000011.10:g.72195693C>T	TOPMed,gnomAD
FOLR1	P15328	p.Arg147ArgTerAspArgValLeuLeuLeuLeuProArgValGluCysSerGlyUnk	rs752405847	stop gained	-	NC_000011.10:g.72195695_72195696insTGAGATAGAGTTTTGCTCTTGTTGCCCAGGGTGGAGTGCAGTGGCAC	ExAC
FOLR1	P15328	p.Arg147His	rs753241819	missense variant	-	NC_000011.10:g.72195694G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr151Ala	rs765019885	missense variant	-	NC_000011.10:g.72195705A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Lys153Asn	rs1393300891	missense variant	-	NC_000011.10:g.72195713G>C	TOPMed,gnomAD
FOLR1	P15328	p.Ser154Arg	rs1438180550	missense variant	-	NC_000011.10:g.72195714A>C	TOPMed,gnomAD
FOLR1	P15328	p.Asn155Asp	rs1438051120	missense variant	-	NC_000011.10:g.72195717A>G	TOPMed
FOLR1	P15328	p.Trp156Gly	rs149320230	missense variant	-	NC_000011.10:g.72195720T>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Lys158Asn	rs750638602	missense variant	-	NC_000011.10:g.72195728G>C	ExAC,gnomAD
FOLR1	P15328	p.Thr163ValGlyGlnAlaGlyLeuGluLeuLeuThr	NCI-TCGA novel	insertion	-	NC_000011.10:g.72195743_72195744insGTTGGCCAGGCTGGTCTCGAACTCCTCACC	NCI-TCGA
FOLR1	P15328	p.Ser164ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.72195742_72195743insACCA	NCI-TCGA
FOLR1	P15328	p.Gly165Trp	rs913171756	missense variant	-	NC_000011.10:g.72195747G>T	TOPMed
FOLR1	P15328	p.Gly165Val	rs766443612	missense variant	-	NC_000011.10:g.72195897G>T	ExAC,gnomAD
FOLR1	P15328	p.Cys169Tyr	rs200076509	missense variant	-	NC_000011.10:g.72195909G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala170Thr	RCV000718474	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195911G>A	ClinVar
FOLR1	P15328	p.Ala170Thr	rs139633601	missense variant	-	NC_000011.10:g.72195911G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala170Thr	RCV000725204	missense variant	-	NC_000011.10:g.72195911G>A	ClinVar
FOLR1	P15328	p.Val171Leu	rs758857268	missense variant	-	NC_000011.10:g.72195914G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly172Ter	rs778286900	stop gained	-	NC_000011.10:g.72195917G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly172Val	rs1247646105	missense variant	-	NC_000011.10:g.72195918G>T	gnomAD
FOLR1	P15328	p.Gly172Arg	rs778286900	missense variant	-	NC_000011.10:g.72195917G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala173Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195920G>A	NCI-TCGA
FOLR1	P15328	p.Ala173Asp	rs771341970	missense variant	-	NC_000011.10:g.72195921C>A	ExAC,gnomAD
FOLR1	P15328	p.Ala174Pro	rs745598432	missense variant	-	NC_000011.10:g.72195923G>C	ExAC,gnomAD
FOLR1	P15328	p.Cys175Ter	rs121918406	stop gained	-	NC_000011.10:g.72195928C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys175Ter	RCV000017644	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195928C>A	ClinVar
FOLR1	P15328	p.Pro177His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195933C>A	NCI-TCGA
FOLR1	P15328	p.His179Tyr	rs1475933334	missense variant	-	NC_000011.10:g.72195938C>T	gnomAD
FOLR1	P15328	p.Phe180Ser	rs1235524247	missense variant	-	NC_000011.10:g.72195942T>C	TOPMed
FOLR1	P15328	p.Tyr181Cys	rs1185288244	missense variant	-	NC_000011.10:g.72195945A>G	gnomAD
FOLR1	P15328	p.Phe182Leu	rs762574089	missense variant	-	NC_000011.10:g.72195949C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Pro183Ser	COSM3870144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195950C>T	NCI-TCGA Cosmic
FOLR1	P15328	p.Pro183His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72195951C>A	NCI-TCGA
FOLR1	P15328	p.Leu188Val	rs764082504	missense variant	-	NC_000011.10:g.72195965C>G	ExAC,gnomAD
FOLR1	P15328	p.Asn190Ser	rs1383584072	missense variant	-	NC_000011.10:g.72195972A>G	gnomAD
FOLR1	P15328	p.Glu191Lys	COSM74691	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72195974G>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Glu191Asp	rs200414084	missense variant	-	NC_000011.10:g.72195976A>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr194Ser	rs375913176	missense variant	-	NC_000011.10:g.72195983A>T	ESP,ExAC,gnomAD
FOLR1	P15328	p.His195Tyr	rs753977934	missense variant	-	NC_000011.10:g.72195986C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.His195Asn	rs753977934	missense variant	-	NC_000011.10:g.72195986C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Tyr197Cys	rs1165021874	missense variant	-	NC_000011.10:g.72195993A>G	gnomAD
FOLR1	P15328	p.Lys198Arg	rs765467626	missense variant	-	NC_000011.10:g.72195996A>G	ExAC,gnomAD
FOLR1	P15328	p.Ser200Asn	rs1454406848	missense variant	-	NC_000011.10:g.72196002G>A	gnomAD
FOLR1	P15328	p.Asn201Tyr	rs1026331856	missense variant	-	NC_000011.10:g.72196004A>T	TOPMed,gnomAD
FOLR1	P15328	p.Arg204Ter	RCV000494464	nonsense	-	NC_000011.10:g.72196013C>T	ClinVar
FOLR1	P15328	p.Arg204Ter	rs952165627	stop gained	-	NC_000011.10:g.72196013C>T	-
FOLR1	P15328	p.Arg204Gln	rs377725668	missense variant	-	NC_000011.10:g.72196014G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gly205Glu	rs985046746	missense variant	-	NC_000011.10:g.72196017G>A	TOPMed,gnomAD
FOLR1	P15328	p.Gly205Trp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72196016G>T	NCI-TCGA
FOLR1	P15328	p.Gly207Ser	COSM4036446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72196022G>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Arg208His	rs145250531	missense variant	-	NC_000011.10:g.72196026G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg208Cys	rs1314623649	missense variant	-	NC_000011.10:g.72196025C>T	gnomAD
FOLR1	P15328	p.Gln211His	rs747612073	missense variant	-	NC_000011.10:g.72196036G>C	ExAC,gnomAD
FOLR1	P15328	p.Trp213Cys	rs757554598	missense variant	-	NC_000011.10:g.72196042G>C	ExAC,gnomAD
FOLR1	P15328	p.Pro216Leu	rs1241745334	missense variant	-	NC_000011.10:g.72196050C>T	TOPMed,gnomAD
FOLR1	P15328	p.Asn220Lys	rs890104508	missense variant	-	NC_000011.10:g.72196063C>A	TOPMed
FOLR1	P15328	p.Pro221His	rs781647545	missense variant	-	NC_000011.10:g.72196065C>A	ExAC,gnomAD
FOLR1	P15328	p.Asn222Ser	rs745483690	missense variant	-	NC_000011.10:g.72196068A>G	ExAC,gnomAD
FOLR1	P15328	p.Glu223Lys	RCV000701256	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196070G>A	ClinVar
FOLR1	P15328	p.Glu223Val	COSM1475875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72196071A>T	NCI-TCGA Cosmic
FOLR1	P15328	p.Glu223Ala	rs769520814	missense variant	-	NC_000011.10:g.72196071A>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu223Gly	rs769520814	missense variant	-	NC_000011.10:g.72196071A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu224Lys	rs779884094	missense variant	-	NC_000011.10:g.72196073G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala226Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72196080C>G	NCI-TCGA
FOLR1	P15328	p.Ala226Thr	rs1158285428	missense variant	-	NC_000011.10:g.72196079G>A	gnomAD
FOLR1	P15328	p.Ala226Val	rs371399726	missense variant	-	NC_000011.10:g.72196080C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Phe228Leu	rs774152850	missense variant	-	NC_000011.10:g.72196085T>C	ExAC,gnomAD
FOLR1	P15328	p.Tyr229Cys	rs1358361643	missense variant	-	NC_000011.10:g.72196089A>G	gnomAD
FOLR1	P15328	p.Ala231Val	rs1555069289	missense variant	-	NC_000011.10:g.72196095C>T	-
FOLR1	P15328	p.Ala231Thr	rs761852124	missense variant	-	NC_000011.10:g.72196094G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala231Val	RCV000534074	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196095C>T	ClinVar
FOLR1	P15328	p.Ala232Thr	RCV000187422	missense variant	-	NC_000011.10:g.72196097G>A	ClinVar
FOLR1	P15328	p.Ala232Thr	rs796052443	missense variant	-	NC_000011.10:g.72196097G>A	-
FOLR1	P15328	p.Ala232Val	rs543710765	missense variant	-	NC_000011.10:g.72196098C>T	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Met233Val	rs773012171	missense variant	-	NC_000011.10:g.72196100A>G	ExAC,gnomAD
FOLR1	P15328	p.Met233Leu	rs773012171	missense variant	-	NC_000011.10:g.72196100A>C	ExAC,gnomAD
FOLR1	P15328	p.Met233Thr	rs1283420229	missense variant	-	NC_000011.10:g.72196101T>C	gnomAD
FOLR1	P15328	p.Met233Leu	rs773012171	missense variant	-	NC_000011.10:g.72196100A>T	ExAC,gnomAD
FOLR1	P15328	p.Gly235Trp	rs760498273	missense variant	-	NC_000011.10:g.72196106G>T	ExAC,gnomAD
FOLR1	P15328	p.Ala236Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72196109G>A	NCI-TCGA
FOLR1	P15328	p.Gly237Trp	rs1411513056	missense variant	-	NC_000011.10:g.72196112G>T	TOPMed
FOLR1	P15328	p.Trp239Arg	COSM4931220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.72196118T>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Trp239Ter	COSM3452984	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.72196120G>A	NCI-TCGA Cosmic
FOLR1	P15328	p.Trp239Arg	rs1225961772	missense variant	-	NC_000011.10:g.72196118T>C	gnomAD
FOLR1	P15328	p.Ala240Val	rs147155003	missense variant	-	NC_000011.10:g.72196122C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala240Val	RCV000647363	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196122C>T	ClinVar
FOLR1	P15328	p.Ala240Val	RCV000724733	missense variant	-	NC_000011.10:g.72196122C>T	ClinVar
FOLR1	P15328	p.Trp242Arg	RCV000647364	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196127T>A	ClinVar
FOLR1	P15328	p.Trp242Arg	RCV000187424	missense variant	-	NC_000011.10:g.72196127T>A	ClinVar
FOLR1	P15328	p.Trp242Ter	RCV000551259	nonsense	Cerebral folate deficiency	NC_000011.10:g.72196129G>A	ClinVar
FOLR1	P15328	p.Trp242Cys	rs752932113	missense variant	-	NC_000011.10:g.72196129G>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Trp242Arg	rs796052445	missense variant	-	NC_000011.10:g.72196127T>A	TOPMed,gnomAD
FOLR1	P15328	p.Trp242Ter	rs752932113	stop gained	-	NC_000011.10:g.72196129G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Pro243Arg	rs1479805229	missense variant	-	NC_000011.10:g.72196131C>G	gnomAD
FOLR1	P15328	p.Pro243Ser	rs1234847513	missense variant	-	NC_000011.10:g.72196130C>T	gnomAD
FOLR1	P15328	p.Phe244Leu	rs1181528047	missense variant	-	NC_000011.10:g.72196133T>C	gnomAD
FOLR1	P15328	p.Leu245Arg	rs1481377477	missense variant	-	NC_000011.10:g.72196137T>G	gnomAD
FOLR1	P15328	p.Ser247Arg	rs1274741193	missense variant	-	NC_000011.10:g.72196142A>C	TOPMed
FOLR1	P15328	p.Ala249Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72196148G>T	NCI-TCGA
FOLR1	P15328	p.Met251Thr	rs1410352089	missense variant	-	NC_000011.10:g.72196155T>C	gnomAD
FOLR1	P15328	p.Trp254Cys	rs1034180699	missense variant	-	NC_000011.10:g.72196165G>T	TOPMed
FOLR1	P15328	p.Leu255Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.72196166C>A	NCI-TCGA
FOLR1	P15328	p.Met1Val	RCV000427429	missense variant	-	NC_000011.10:g.72192174A>G	ClinVar
FOLR1	P15328	p.Ala2Pro	rs1269450657	missense variant	-	NC_000011.10:g.72192177G>C	TOPMed
FOLR1	P15328	p.Gln3Arg	rs1261674339	missense variant	-	NC_000011.10:g.72192181A>G	gnomAD
FOLR1	P15328	p.Arg4Gln	RCV000487548	missense variant	-	NC_000011.10:g.72192184G>A	ClinVar
FOLR1	P15328	p.Arg4Trp	rs112062510	missense variant	-	NC_000011.10:g.72192183C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg4Leu	rs145380453	missense variant	-	NC_000011.10:g.72192184G>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg4Gln	rs145380453	missense variant	-	NC_000011.10:g.72192184G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met5Val	RCV000793516	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192186A>G	ClinVar
FOLR1	P15328	p.Met5Val	RCV000723894	missense variant	-	NC_000011.10:g.72192186A>G	ClinVar
FOLR1	P15328	p.Met5Ile	rs529913828	missense variant	-	NC_000011.10:g.72192188G>A	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Met5Val	rs371565364	missense variant	-	NC_000011.10:g.72192186A>G	1000Genomes,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr6Ile	rs1159477597	missense variant	-	NC_000011.10:g.72192190C>T	TOPMed,gnomAD
FOLR1	P15328	p.Gln8Lys	rs770851094	missense variant	-	NC_000011.10:g.72192195C>A	ExAC,gnomAD
FOLR1	P15328	p.Leu11Phe	rs943751173	missense variant	-	NC_000011.10:g.72192204C>T	TOPMed
FOLR1	P15328	p.Leu12Ter	RCV000596318	frameshift	-	NC_000011.10:g.72192207del	ClinVar
FOLR1	P15328	p.Leu13Pro	rs776579195	missense variant	-	NC_000011.10:g.72192211T>C	ExAC,gnomAD
FOLR1	P15328	p.Val14Ala	rs1288175012	missense variant	-	NC_000011.10:g.72192214T>C	gnomAD
FOLR1	P15328	p.Trp15Gly	rs1379767616	missense variant	-	NC_000011.10:g.72192216T>G	gnomAD
FOLR1	P15328	p.Trp15Cys	rs200261943	missense variant	-	NC_000011.10:g.72192218G>T	1000Genomes,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gly20Ala	RCV000520315	missense variant	-	NC_000011.10:g.72192232G>C	ClinVar
FOLR1	P15328	p.Gly20Arg	rs774539100	missense variant	-	NC_000011.10:g.72192231G>C	ExAC,gnomAD
FOLR1	P15328	p.Gly20Ala	rs566120497	missense variant	-	NC_000011.10:g.72192232G>C	1000Genomes,TOPMed
FOLR1	P15328	p.Gly20Arg	rs774539100	missense variant	-	NC_000011.10:g.72192231G>A	ExAC,gnomAD
FOLR1	P15328	p.Gly20Glu	rs566120497	missense variant	-	NC_000011.10:g.72192232G>A	1000Genomes,TOPMed
FOLR1	P15328	p.Glu21Lys	rs1240345211	missense variant	-	NC_000011.10:g.72192234G>A	gnomAD
FOLR1	P15328	p.Ala22Val	RCV000716016	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72192238C>T	ClinVar
FOLR1	P15328	p.Thr24Ile	rs1038476253	missense variant	-	NC_000011.10:g.72192244C>T	TOPMed,gnomAD
FOLR1	P15328	p.Ala27Gly	rs762158226	missense variant	-	NC_000011.10:g.72192253C>G	ExAC,TOPMed
FOLR1	P15328	p.Trp28Arg	rs7928649	missense variant	-	NC_000011.10:g.72192255T>C	UniProt,dbSNP
FOLR1	P15328	p.Trp28Arg	VAR_059284	missense variant	-	NC_000011.10:g.72192255T>C	UniProt
FOLR1	P15328	p.Trp28Arg	rs7928649	missense variant	-	NC_000011.10:g.72192255T>C	-
FOLR1	P15328	p.Thr31Ile	rs1304635865	missense variant	-	NC_000011.10:g.72192265C>T	TOPMed,gnomAD
FOLR1	P15328	p.Thr31Ser	rs1304635865	missense variant	-	NC_000011.10:g.72192265C>G	TOPMed,gnomAD
FOLR1	P15328	p.Asn35Asp	rs149216939	missense variant	-	NC_000011.10:g.72192276A>G	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Asn35Asp	RCV000556042	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192276A>G	ClinVar
FOLR1	P15328	p.Met38Leu	rs1483857647	missense variant	-	NC_000011.10:g.72192285A>C	TOPMed,gnomAD
FOLR1	P15328	p.Met38Ile	rs1241611500	missense variant	-	NC_000011.10:g.72192287G>A	gnomAD
FOLR1	P15328	p.Met38Val	rs1483857647	missense variant	-	NC_000011.10:g.72192285A>G	TOPMed,gnomAD
FOLR1	P15328	p.Met38Lys	rs750562595	missense variant	-	NC_000011.10:g.72192286T>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met38Thr	rs750562595	missense variant	-	NC_000011.10:g.72192286T>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Asn39Tyr	rs1477467941	missense variant	-	NC_000011.10:g.72192288A>T	TOPMed
FOLR1	P15328	p.Ala40Thr	rs766928917	missense variant	-	NC_000011.10:g.72192291G>A	ExAC,gnomAD
FOLR1	P15328	p.His42Tyr	rs754414177	missense variant	-	NC_000011.10:g.72192297C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.His42Asn	rs754414177	missense variant	-	NC_000011.10:g.72192297C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Pro47Ala	RCV000647365	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192312C>G	ClinVar
FOLR1	P15328	p.Pro47Ala	rs1555068662	missense variant	-	NC_000011.10:g.72192312C>G	-
FOLR1	P15328	p.Gly48Asp	rs1470914938	missense variant	-	NC_000011.10:g.72192316G>A	gnomAD
FOLR1	P15328	p.Glu50Lys	rs1488460520	missense variant	-	NC_000011.10:g.72192321G>A	TOPMed
FOLR1	P15328	p.Asp51Asn	rs777311664	missense variant	-	NC_000011.10:g.72192324G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu55Lys	rs1370692247	missense variant	-	NC_000011.10:g.72192336G>A	TOPMed,gnomAD
FOLR1	P15328	p.Arg58Ter	rs763735285	stop gained	-	NC_000011.10:g.72195274C>T	ExAC,gnomAD
FOLR1	P15328	p.Arg58Gln	rs138575051	missense variant	-	NC_000011.10:g.72195275G>A	1000Genomes,gnomAD
FOLR1	P15328	p.Pro59Arg	rs1275551543	missense variant	-	NC_000011.10:g.72195278C>G	gnomAD
FOLR1	P15328	p.Trp60Leu	rs751184313	missense variant	-	NC_000011.10:g.72195281G>T	ExAC,gnomAD
FOLR1	P15328	p.Ala64Asp	rs1365926784	missense variant	-	NC_000011.10:g.72195293C>A	TOPMed
FOLR1	P15328	p.Ala64Ser	RCV000493078	missense variant	-	NC_000011.10:g.72195292G>T	ClinVar
FOLR1	P15328	p.Ala64Ser	rs1131691637	missense variant	-	NC_000011.10:g.72195292G>T	gnomAD
FOLR1	P15328	p.Cys65Trp	rs1247541422	missense variant	-	NC_000011.10:g.72195297C>G	gnomAD
FOLR1	P15328	p.Cys65Tyr	rs1335969248	missense variant	-	NC_000011.10:g.72195296G>A	TOPMed
FOLR1	P15328	p.Cys66Tyr	rs779015471	missense variant	-	NC_000011.10:g.72195299G>A	ExAC,gnomAD
FOLR1	P15328	p.Asn69Asp	rs780742785	missense variant	-	NC_000011.10:g.72195307A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln72Arg	RCV000723981	missense variant	-	NC_000011.10:g.72195317A>G	ClinVar
FOLR1	P15328	p.Gln72Arg	rs148345688	missense variant	-	NC_000011.10:g.72195317A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln72His	rs756090881	missense variant	-	NC_000011.10:g.72195318G>T	ExAC
FOLR1	P15328	p.Ala74Thr	rs779986083	missense variant	-	NC_000011.10:g.72195322G>A	ExAC,gnomAD
FOLR1	P15328	p.His75Gln	rs749048689	missense variant	-	NC_000011.10:g.72195327T>A	ExAC,gnomAD
FOLR1	P15328	p.Val78Ile	rs1417053720	missense variant	-	NC_000011.10:g.72195334G>A	gnomAD
FOLR1	P15328	p.Tyr82His	rs950917027	missense variant	-	NC_000011.10:g.72195346T>C	TOPMed,gnomAD
FOLR1	P15328	p.Phe84Leu	rs1005890697	missense variant	-	NC_000011.10:g.72195354C>A	TOPMed
FOLR1	P15328	p.Trp86Arg	rs1409176806	missense variant	-	NC_000011.10:g.72195358T>C	gnomAD
FOLR1	P15328	p.Trp86Ter	RCV000533599	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195359G>A	ClinVar
FOLR1	P15328	p.Trp86Ter	rs1555069069	stop gained	-	NC_000011.10:g.72195359G>A	-
FOLR1	P15328	p.His88Tyr	rs1367019932	missense variant	-	NC_000011.10:g.72195364C>T	gnomAD
FOLR1	P15328	p.His88Leu	rs773474550	missense variant	-	NC_000011.10:g.72195365A>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met92Val	rs771104939	missense variant	-	NC_000011.10:g.72195376A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Pro94Arg	RCV000716070	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195383C>G	ClinVar
FOLR1	P15328	p.Pro94Arg	RCV000187418	missense variant	-	NC_000011.10:g.72195383C>G	ClinVar
FOLR1	P15328	p.Pro94Arg	rs759712157	missense variant	-	NC_000011.10:g.72195383C>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys96Tyr	rs1057518816	missense variant	-	NC_000011.10:g.72195389G>A	-
FOLR1	P15328	p.Cys96Tyr	RCV000415252	missense variant	-	NC_000011.10:g.72195389G>A	ClinVar
FOLR1	P15328	p.Lys97Asn	rs775864895	missense variant	-	NC_000011.10:g.72195393A>T	ExAC,gnomAD
FOLR1	P15328	p.Arg98Trp	RCV000487848	missense variant	-	NC_000011.10:g.72195394C>T	ClinVar
FOLR1	P15328	p.Arg98Trp	rs76191655	missense variant	-	NC_000011.10:g.72195394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg98Gln	rs764420714	missense variant	-	NC_000011.10:g.72195395G>A	ExAC,gnomAD
FOLR1	P15328	p.Asp103Ala	rs751220498	missense variant	-	NC_000011.10:g.72195410A>C	ExAC
FOLR1	P15328	p.Thr104Pro	rs756942461	missense variant	-	NC_000011.10:g.72195412A>C	ExAC,gnomAD
FOLR1	P15328	p.Thr104Asn	rs766989831	missense variant	-	NC_000011.10:g.72195413C>A	ExAC,gnomAD
FOLR1	P15328	p.Cys105Phe	RCV000376883	missense variant	-	NC_000011.10:g.72195416G>T	ClinVar
FOLR1	P15328	p.Cys105Phe	rs755627957	missense variant	-	NC_000011.10:g.72195416G>T	ExAC,gnomAD
FOLR1	P15328	p.Leu106Pro	rs1386926475	missense variant	-	NC_000011.10:g.72195419T>C	gnomAD
FOLR1	P15328	p.Tyr107Ter	rs145674759	stop gained	-	NC_000011.10:g.72195423C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu108Lys	RCV000524015	missense variant	-	NC_000011.10:g.72195424G>A	ClinVar
FOLR1	P15328	p.Glu108Lys	rs1555069113	missense variant	-	NC_000011.10:g.72195424G>A	-
FOLR1	P15328	p.Asn112Ser	rs1325172613	missense variant	-	NC_000011.10:g.72195437A>G	gnomAD
FOLR1	P15328	p.Asn112Ser	RCV000623117	missense variant	Inborn genetic diseases	NC_000011.10:g.72195437A>G	ClinVar
FOLR1	P15328	p.Pro115Ser	rs749242260	missense variant	-	NC_000011.10:g.72195445C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln118Ter	rs121918405	stop gained	-	NC_000011.10:g.72195454C>T	gnomAD
FOLR1	P15328	p.Gln118Ter	RCV000725453	nonsense	-	NC_000011.10:g.72195454C>T	ClinVar
FOLR1	P15328	p.Gln118Ter	RCV000017643	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195454C>T	ClinVar
FOLR1	P15328	p.Ser123Asn	rs886568002	missense variant	-	NC_000011.10:g.72195622G>A	TOPMed
FOLR1	P15328	p.Trp124Arg	rs1264956352	missense variant	-	NC_000011.10:g.72195624T>C	gnomAD
FOLR1	P15328	p.Arg125Cys	rs752503322	missense variant	-	NC_000011.10:g.72195627C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg125His	rs1202769307	missense variant	-	NC_000011.10:g.72195628G>A	gnomAD
FOLR1	P15328	p.Glu127Lys	rs138331534	missense variant	-	NC_000011.10:g.72195633G>A	ESP,TOPMed
FOLR1	P15328	p.Glu127Gly	rs964480401	missense variant	-	NC_000011.10:g.72195634A>G	TOPMed,gnomAD
FOLR1	P15328	p.Arg128Gln	rs996350831	missense variant	-	NC_000011.10:g.72195637G>A	TOPMed
FOLR1	P15328	p.Arg128Trp	rs200728335	missense variant	-	NC_000011.10:g.72195636C>T	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Val129Ile	rs142717163	missense variant	-	NC_000011.10:g.72195639G>A	ESP,ExAC,gnomAD
FOLR1	P15328	p.Leu130Arg	rs1177732628	missense variant	-	NC_000011.10:g.72195643T>G	gnomAD
FOLR1	P15328	p.Asn131Asp	rs1029995293	missense variant	-	NC_000011.10:g.72195645A>G	TOPMed,gnomAD
FOLR1	P15328	p.Val132Leu	rs749779274	missense variant	-	NC_000011.10:g.72195648G>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Val132Met	rs749779274	missense variant	-	NC_000011.10:g.72195648G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys135Arg	rs774868210	missense variant	-	NC_000011.10:g.72195657T>C	ExAC,gnomAD
FOLR1	P15328	p.Glu137Lys	rs762109657	missense variant	-	NC_000011.10:g.72195663G>A	ExAC,gnomAD
FOLR1	P15328	p.Glu137Asp	rs796052441	missense variant	-	NC_000011.10:g.72195665G>C	TOPMed,gnomAD
FOLR1	P15328	p.Asp138Asn	RCV000187420	missense variant	-	NC_000011.10:g.72195666G>A	ClinVar
FOLR1	P15328	p.Asp138Asn	rs796052442	missense variant	-	NC_000011.10:g.72195666G>A	-
FOLR1	P15328	p.Cys139Gly	rs772484521	missense variant	-	NC_000011.10:g.72195669T>G	ExAC,gnomAD
FOLR1	P15328	p.Trp142Ter	rs772848165	stop gained	-	NC_000011.10:g.72195679G>A	ExAC
FOLR1	P15328	p.Asp145Gly	rs1224242224	missense variant	-	NC_000011.10:g.72195688A>G	gnomAD
FOLR1	P15328	p.Cys146Ter	rs765895524	stop gained	-	NC_000011.10:g.72195692T>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg147ArgTerAspArgValLeuLeuLeuLeuProArgValGluCysSerGlyUnk	rs752405847	stop gained	-	NC_000011.10:g.72195695_72195696insTGAGATAGAGTTTTGCTCTTGTTGCCCAGGGTGGAGTGCAGTGGCAC	ExAC
FOLR1	P15328	p.Arg147His	rs753241819	missense variant	-	NC_000011.10:g.72195694G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg147Cys	rs1222897077	missense variant	-	NC_000011.10:g.72195693C>T	TOPMed,gnomAD
FOLR1	P15328	p.Thr151Ala	rs765019885	missense variant	-	NC_000011.10:g.72195705A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Lys153Asn	rs1393300891	missense variant	-	NC_000011.10:g.72195713G>C	TOPMed,gnomAD
FOLR1	P15328	p.Ser154Arg	rs1438180550	missense variant	-	NC_000011.10:g.72195714A>C	TOPMed,gnomAD
FOLR1	P15328	p.Asn155Asp	rs1438051120	missense variant	-	NC_000011.10:g.72195717A>G	TOPMed
FOLR1	P15328	p.Trp156Gly	rs149320230	missense variant	-	NC_000011.10:g.72195720T>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Lys158Asn	rs750638602	missense variant	-	NC_000011.10:g.72195728G>C	ExAC,gnomAD
FOLR1	P15328	p.Gly165Trp	rs913171756	missense variant	-	NC_000011.10:g.72195747G>T	TOPMed
FOLR1	P15328	p.Gly165Val	rs766443612	missense variant	-	NC_000011.10:g.72195897G>T	ExAC,gnomAD
FOLR1	P15328	p.Cys169Tyr	rs200076509	missense variant	-	NC_000011.10:g.72195909G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala170Thr	RCV000718474	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195911G>A	ClinVar
FOLR1	P15328	p.Ala170Thr	RCV000725204	missense variant	-	NC_000011.10:g.72195911G>A	ClinVar
FOLR1	P15328	p.Ala170Thr	rs139633601	missense variant	-	NC_000011.10:g.72195911G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Val171Leu	rs758857268	missense variant	-	NC_000011.10:g.72195914G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly172Ter	rs778286900	stop gained	-	NC_000011.10:g.72195917G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly172Arg	rs778286900	missense variant	-	NC_000011.10:g.72195917G>A	ExAC,gnomAD
FOLR1	P15328	p.Gly172Val	rs1247646105	missense variant	-	NC_000011.10:g.72195918G>T	gnomAD
FOLR1	P15328	p.Ala173Asp	rs771341970	missense variant	-	NC_000011.10:g.72195921C>A	ExAC,gnomAD
FOLR1	P15328	p.Ala174Pro	rs745598432	missense variant	-	NC_000011.10:g.72195923G>C	ExAC,gnomAD
FOLR1	P15328	p.Cys175Ter	rs121918406	stop gained	-	NC_000011.10:g.72195928C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys175Ter	RCV000017644	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195928C>A	ClinVar
FOLR1	P15328	p.His179Tyr	rs1475933334	missense variant	-	NC_000011.10:g.72195938C>T	gnomAD
FOLR1	P15328	p.Phe180Ser	rs1235524247	missense variant	-	NC_000011.10:g.72195942T>C	TOPMed
FOLR1	P15328	p.Tyr181Cys	rs1185288244	missense variant	-	NC_000011.10:g.72195945A>G	gnomAD
FOLR1	P15328	p.Phe182Leu	rs762574089	missense variant	-	NC_000011.10:g.72195949C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Leu188Val	rs764082504	missense variant	-	NC_000011.10:g.72195965C>G	ExAC,gnomAD
FOLR1	P15328	p.Asn190Ser	rs1383584072	missense variant	-	NC_000011.10:g.72195972A>G	gnomAD
FOLR1	P15328	p.Glu191Asp	rs200414084	missense variant	-	NC_000011.10:g.72195976A>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr194Ser	rs375913176	missense variant	-	NC_000011.10:g.72195983A>T	ESP,ExAC,gnomAD
FOLR1	P15328	p.His195Tyr	rs753977934	missense variant	-	NC_000011.10:g.72195986C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.His195Asn	rs753977934	missense variant	-	NC_000011.10:g.72195986C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Tyr197Cys	rs1165021874	missense variant	-	NC_000011.10:g.72195993A>G	gnomAD
FOLR1	P15328	p.Lys198Arg	rs765467626	missense variant	-	NC_000011.10:g.72195996A>G	ExAC,gnomAD
FOLR1	P15328	p.Ser200Asn	rs1454406848	missense variant	-	NC_000011.10:g.72196002G>A	gnomAD
FOLR1	P15328	p.Asn201Tyr	rs1026331856	missense variant	-	NC_000011.10:g.72196004A>T	TOPMed,gnomAD
FOLR1	P15328	p.Arg204Ter	RCV000494464	nonsense	-	NC_000011.10:g.72196013C>T	ClinVar
FOLR1	P15328	p.Arg204Ter	rs952165627	stop gained	-	NC_000011.10:g.72196013C>T	-
FOLR1	P15328	p.Arg204Gln	rs377725668	missense variant	-	NC_000011.10:g.72196014G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gly205Glu	rs985046746	missense variant	-	NC_000011.10:g.72196017G>A	TOPMed,gnomAD
FOLR1	P15328	p.Arg208Cys	rs1314623649	missense variant	-	NC_000011.10:g.72196025C>T	gnomAD
FOLR1	P15328	p.Arg208His	rs145250531	missense variant	-	NC_000011.10:g.72196026G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln211His	rs747612073	missense variant	-	NC_000011.10:g.72196036G>C	ExAC,gnomAD
FOLR1	P15328	p.Trp213Cys	rs757554598	missense variant	-	NC_000011.10:g.72196042G>C	ExAC,gnomAD
FOLR1	P15328	p.Pro216Leu	rs1241745334	missense variant	-	NC_000011.10:g.72196050C>T	TOPMed,gnomAD
FOLR1	P15328	p.Asn220Lys	rs890104508	missense variant	-	NC_000011.10:g.72196063C>A	TOPMed
FOLR1	P15328	p.Pro221His	rs781647545	missense variant	-	NC_000011.10:g.72196065C>A	ExAC,gnomAD
FOLR1	P15328	p.Asn222Ser	rs745483690	missense variant	-	NC_000011.10:g.72196068A>G	ExAC,gnomAD
FOLR1	P15328	p.Glu223Lys	RCV000701256	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196070G>A	ClinVar
FOLR1	P15328	p.Glu223Ala	rs769520814	missense variant	-	NC_000011.10:g.72196071A>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu223Gly	rs769520814	missense variant	-	NC_000011.10:g.72196071A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu224Lys	rs779884094	missense variant	-	NC_000011.10:g.72196073G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala226Val	rs371399726	missense variant	-	NC_000011.10:g.72196080C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala226Thr	rs1158285428	missense variant	-	NC_000011.10:g.72196079G>A	gnomAD
FOLR1	P15328	p.Phe228Leu	rs774152850	missense variant	-	NC_000011.10:g.72196085T>C	ExAC,gnomAD
FOLR1	P15328	p.Tyr229Cys	rs1358361643	missense variant	-	NC_000011.10:g.72196089A>G	gnomAD
FOLR1	P15328	p.Ala231Val	RCV000534074	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196095C>T	ClinVar
FOLR1	P15328	p.Ala231Thr	rs761852124	missense variant	-	NC_000011.10:g.72196094G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala231Val	rs1555069289	missense variant	-	NC_000011.10:g.72196095C>T	-
FOLR1	P15328	p.Ala232Thr	RCV000187422	missense variant	-	NC_000011.10:g.72196097G>A	ClinVar
FOLR1	P15328	p.Ala232Thr	rs796052443	missense variant	-	NC_000011.10:g.72196097G>A	-
FOLR1	P15328	p.Ala232Val	rs543710765	missense variant	-	NC_000011.10:g.72196098C>T	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Met233Leu	rs773012171	missense variant	-	NC_000011.10:g.72196100A>C	ExAC,gnomAD
FOLR1	P15328	p.Met233Val	rs773012171	missense variant	-	NC_000011.10:g.72196100A>G	ExAC,gnomAD
FOLR1	P15328	p.Met233Thr	rs1283420229	missense variant	-	NC_000011.10:g.72196101T>C	gnomAD
FOLR1	P15328	p.Met233Leu	rs773012171	missense variant	-	NC_000011.10:g.72196100A>T	ExAC,gnomAD
FOLR1	P15328	p.Gly235Trp	rs760498273	missense variant	-	NC_000011.10:g.72196106G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly237Trp	rs1411513056	missense variant	-	NC_000011.10:g.72196112G>T	TOPMed
FOLR1	P15328	p.Trp239Arg	rs1225961772	missense variant	-	NC_000011.10:g.72196118T>C	gnomAD
FOLR1	P15328	p.Ala240Val	rs147155003	missense variant	-	NC_000011.10:g.72196122C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala240Val	RCV000724733	missense variant	-	NC_000011.10:g.72196122C>T	ClinVar
FOLR1	P15328	p.Ala240Val	RCV000647363	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196122C>T	ClinVar
FOLR1	P15328	p.Trp242Arg	RCV000187424	missense variant	-	NC_000011.10:g.72196127T>A	ClinVar
FOLR1	P15328	p.Trp242Arg	RCV000647364	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196127T>A	ClinVar
FOLR1	P15328	p.Trp242Ter	RCV000551259	nonsense	Cerebral folate deficiency	NC_000011.10:g.72196129G>A	ClinVar
FOLR1	P15328	p.Trp242Cys	rs752932113	missense variant	-	NC_000011.10:g.72196129G>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Trp242Arg	rs796052445	missense variant	-	NC_000011.10:g.72196127T>A	TOPMed,gnomAD
FOLR1	P15328	p.Trp242Ter	rs752932113	stop gained	-	NC_000011.10:g.72196129G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Pro243Arg	rs1479805229	missense variant	-	NC_000011.10:g.72196131C>G	gnomAD
FOLR1	P15328	p.Pro243Ser	rs1234847513	missense variant	-	NC_000011.10:g.72196130C>T	gnomAD
FOLR1	P15328	p.Phe244Leu	rs1181528047	missense variant	-	NC_000011.10:g.72196133T>C	gnomAD
FOLR1	P15328	p.Leu245Arg	rs1481377477	missense variant	-	NC_000011.10:g.72196137T>G	gnomAD
FOLR1	P15328	p.Ser247Arg	rs1274741193	missense variant	-	NC_000011.10:g.72196142A>C	TOPMed
FOLR1	P15328	p.Met251Thr	rs1410352089	missense variant	-	NC_000011.10:g.72196155T>C	gnomAD
FOLR1	P15328	p.Trp254Cys	rs1034180699	missense variant	-	NC_000011.10:g.72196165G>T	TOPMed
FOLR1	P15328	p.Met1Val	RCV000427429	missense variant	-	NC_000011.10:g.72192174A>G	ClinVar
FOLR1	P15328	p.Ala2Pro	rs1269450657	missense variant	-	NC_000011.10:g.72192177G>C	TOPMed
FOLR1	P15328	p.Gln3Arg	rs1261674339	missense variant	-	NC_000011.10:g.72192181A>G	gnomAD
FOLR1	P15328	p.Arg4Gln	RCV000487548	missense variant	-	NC_000011.10:g.72192184G>A	ClinVar
FOLR1	P15328	p.Arg4Leu	rs145380453	missense variant	-	NC_000011.10:g.72192184G>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg4Trp	rs112062510	missense variant	-	NC_000011.10:g.72192183C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg4Gln	rs145380453	missense variant	-	NC_000011.10:g.72192184G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met5Val	RCV000793516	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192186A>G	ClinVar
FOLR1	P15328	p.Met5Val	RCV000723894	missense variant	-	NC_000011.10:g.72192186A>G	ClinVar
FOLR1	P15328	p.Met5Ile	rs529913828	missense variant	-	NC_000011.10:g.72192188G>A	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Met5Val	rs371565364	missense variant	-	NC_000011.10:g.72192186A>G	1000Genomes,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr6Ile	rs1159477597	missense variant	-	NC_000011.10:g.72192190C>T	TOPMed,gnomAD
FOLR1	P15328	p.Gln8Lys	rs770851094	missense variant	-	NC_000011.10:g.72192195C>A	ExAC,gnomAD
FOLR1	P15328	p.Leu11Phe	rs943751173	missense variant	-	NC_000011.10:g.72192204C>T	TOPMed
FOLR1	P15328	p.Leu12Ter	RCV000596318	frameshift	-	NC_000011.10:g.72192207del	ClinVar
FOLR1	P15328	p.Leu13Pro	rs776579195	missense variant	-	NC_000011.10:g.72192211T>C	ExAC,gnomAD
FOLR1	P15328	p.Val14Ala	rs1288175012	missense variant	-	NC_000011.10:g.72192214T>C	gnomAD
FOLR1	P15328	p.Trp15Gly	rs1379767616	missense variant	-	NC_000011.10:g.72192216T>G	gnomAD
FOLR1	P15328	p.Trp15Cys	rs200261943	missense variant	-	NC_000011.10:g.72192218G>T	1000Genomes,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gly20Ala	rs566120497	missense variant	-	NC_000011.10:g.72192232G>C	1000Genomes,TOPMed
FOLR1	P15328	p.Gly20Arg	rs774539100	missense variant	-	NC_000011.10:g.72192231G>C	ExAC,gnomAD
FOLR1	P15328	p.Gly20Arg	rs774539100	missense variant	-	NC_000011.10:g.72192231G>A	ExAC,gnomAD
FOLR1	P15328	p.Gly20Glu	rs566120497	missense variant	-	NC_000011.10:g.72192232G>A	1000Genomes,TOPMed
FOLR1	P15328	p.Gly20Ala	RCV000520315	missense variant	-	NC_000011.10:g.72192232G>C	ClinVar
FOLR1	P15328	p.Glu21Lys	rs1240345211	missense variant	-	NC_000011.10:g.72192234G>A	gnomAD
FOLR1	P15328	p.Ala22Val	RCV000716016	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72192238C>T	ClinVar
FOLR1	P15328	p.Thr24Ile	rs1038476253	missense variant	-	NC_000011.10:g.72192244C>T	TOPMed,gnomAD
FOLR1	P15328	p.Ala27Gly	rs762158226	missense variant	-	NC_000011.10:g.72192253C>G	ExAC,TOPMed
FOLR1	P15328	p.Trp28Arg	rs7928649	missense variant	-	NC_000011.10:g.72192255T>C	-
FOLR1	P15328	p.Trp28Arg	rs7928649	missense variant	-	NC_000011.10:g.72192255T>C	UniProt,dbSNP
FOLR1	P15328	p.Trp28Arg	VAR_059284	missense variant	-	NC_000011.10:g.72192255T>C	UniProt
FOLR1	P15328	p.Thr31Ile	rs1304635865	missense variant	-	NC_000011.10:g.72192265C>T	TOPMed,gnomAD
FOLR1	P15328	p.Thr31Ser	rs1304635865	missense variant	-	NC_000011.10:g.72192265C>G	TOPMed,gnomAD
FOLR1	P15328	p.Asn35Asp	rs149216939	missense variant	-	NC_000011.10:g.72192276A>G	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Asn35Asp	RCV000556042	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192276A>G	ClinVar
FOLR1	P15328	p.Met38Leu	rs1483857647	missense variant	-	NC_000011.10:g.72192285A>C	TOPMed,gnomAD
FOLR1	P15328	p.Met38Lys	rs750562595	missense variant	-	NC_000011.10:g.72192286T>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met38Ile	rs1241611500	missense variant	-	NC_000011.10:g.72192287G>A	gnomAD
FOLR1	P15328	p.Met38Val	rs1483857647	missense variant	-	NC_000011.10:g.72192285A>G	TOPMed,gnomAD
FOLR1	P15328	p.Met38Thr	rs750562595	missense variant	-	NC_000011.10:g.72192286T>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Asn39Tyr	rs1477467941	missense variant	-	NC_000011.10:g.72192288A>T	TOPMed
FOLR1	P15328	p.Ala40Thr	rs766928917	missense variant	-	NC_000011.10:g.72192291G>A	ExAC,gnomAD
FOLR1	P15328	p.His42Tyr	rs754414177	missense variant	-	NC_000011.10:g.72192297C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.His42Asn	rs754414177	missense variant	-	NC_000011.10:g.72192297C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Pro47Ala	RCV000647365	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192312C>G	ClinVar
FOLR1	P15328	p.Pro47Ala	rs1555068662	missense variant	-	NC_000011.10:g.72192312C>G	-
FOLR1	P15328	p.Gly48Asp	rs1470914938	missense variant	-	NC_000011.10:g.72192316G>A	gnomAD
FOLR1	P15328	p.Glu50Lys	rs1488460520	missense variant	-	NC_000011.10:g.72192321G>A	TOPMed
FOLR1	P15328	p.Asp51Asn	rs777311664	missense variant	-	NC_000011.10:g.72192324G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu55Lys	rs1370692247	missense variant	-	NC_000011.10:g.72192336G>A	TOPMed,gnomAD
FOLR1	P15328	p.Arg58Ter	rs763735285	stop gained	-	NC_000011.10:g.72195274C>T	ExAC,gnomAD
FOLR1	P15328	p.Arg58Gln	rs138575051	missense variant	-	NC_000011.10:g.72195275G>A	1000Genomes,gnomAD
FOLR1	P15328	p.Pro59Arg	rs1275551543	missense variant	-	NC_000011.10:g.72195278C>G	gnomAD
FOLR1	P15328	p.Trp60Leu	rs751184313	missense variant	-	NC_000011.10:g.72195281G>T	ExAC,gnomAD
FOLR1	P15328	p.Ala64Ser	RCV000493078	missense variant	-	NC_000011.10:g.72195292G>T	ClinVar
FOLR1	P15328	p.Ala64Asp	rs1365926784	missense variant	-	NC_000011.10:g.72195293C>A	TOPMed
FOLR1	P15328	p.Ala64Ser	rs1131691637	missense variant	-	NC_000011.10:g.72195292G>T	gnomAD
FOLR1	P15328	p.Cys65Trp	rs1247541422	missense variant	-	NC_000011.10:g.72195297C>G	gnomAD
FOLR1	P15328	p.Cys65Tyr	rs1335969248	missense variant	-	NC_000011.10:g.72195296G>A	TOPMed
FOLR1	P15328	p.Cys66Tyr	rs779015471	missense variant	-	NC_000011.10:g.72195299G>A	ExAC,gnomAD
FOLR1	P15328	p.Asn69Asp	rs780742785	missense variant	-	NC_000011.10:g.72195307A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln72Arg	RCV000723981	missense variant	-	NC_000011.10:g.72195317A>G	ClinVar
FOLR1	P15328	p.Gln72His	rs756090881	missense variant	-	NC_000011.10:g.72195318G>T	ExAC
FOLR1	P15328	p.Gln72Arg	rs148345688	missense variant	-	NC_000011.10:g.72195317A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala74Thr	rs779986083	missense variant	-	NC_000011.10:g.72195322G>A	ExAC,gnomAD
FOLR1	P15328	p.His75Gln	rs749048689	missense variant	-	NC_000011.10:g.72195327T>A	ExAC,gnomAD
FOLR1	P15328	p.Val78Ile	rs1417053720	missense variant	-	NC_000011.10:g.72195334G>A	gnomAD
FOLR1	P15328	p.Tyr82His	rs950917027	missense variant	-	NC_000011.10:g.72195346T>C	TOPMed,gnomAD
FOLR1	P15328	p.Phe84Leu	rs1005890697	missense variant	-	NC_000011.10:g.72195354C>A	TOPMed
FOLR1	P15328	p.Trp86Ter	rs1555069069	stop gained	-	NC_000011.10:g.72195359G>A	-
FOLR1	P15328	p.Trp86Arg	rs1409176806	missense variant	-	NC_000011.10:g.72195358T>C	gnomAD
FOLR1	P15328	p.Trp86Ter	RCV000533599	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195359G>A	ClinVar
FOLR1	P15328	p.His88Tyr	rs1367019932	missense variant	-	NC_000011.10:g.72195364C>T	gnomAD
FOLR1	P15328	p.His88Leu	rs773474550	missense variant	-	NC_000011.10:g.72195365A>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met92Val	rs771104939	missense variant	-	NC_000011.10:g.72195376A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Pro94Arg	RCV000187418	missense variant	-	NC_000011.10:g.72195383C>G	ClinVar
FOLR1	P15328	p.Pro94Arg	RCV000716070	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195383C>G	ClinVar
FOLR1	P15328	p.Pro94Arg	rs759712157	missense variant	-	NC_000011.10:g.72195383C>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys96Tyr	RCV000415252	missense variant	-	NC_000011.10:g.72195389G>A	ClinVar
FOLR1	P15328	p.Cys96Tyr	rs1057518816	missense variant	-	NC_000011.10:g.72195389G>A	-
FOLR1	P15328	p.Lys97Asn	rs775864895	missense variant	-	NC_000011.10:g.72195393A>T	ExAC,gnomAD
FOLR1	P15328	p.Arg98Trp	RCV000487848	missense variant	-	NC_000011.10:g.72195394C>T	ClinVar
FOLR1	P15328	p.Arg98Trp	rs76191655	missense variant	-	NC_000011.10:g.72195394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg98Gln	rs764420714	missense variant	-	NC_000011.10:g.72195395G>A	ExAC,gnomAD
FOLR1	P15328	p.Asp103Ala	rs751220498	missense variant	-	NC_000011.10:g.72195410A>C	ExAC
FOLR1	P15328	p.Thr104Pro	rs756942461	missense variant	-	NC_000011.10:g.72195412A>C	ExAC,gnomAD
FOLR1	P15328	p.Thr104Asn	rs766989831	missense variant	-	NC_000011.10:g.72195413C>A	ExAC,gnomAD
FOLR1	P15328	p.Cys105Phe	RCV000376883	missense variant	-	NC_000011.10:g.72195416G>T	ClinVar
FOLR1	P15328	p.Cys105Phe	rs755627957	missense variant	-	NC_000011.10:g.72195416G>T	ExAC,gnomAD
FOLR1	P15328	p.Leu106Pro	rs1386926475	missense variant	-	NC_000011.10:g.72195419T>C	gnomAD
FOLR1	P15328	p.Tyr107Ter	rs145674759	stop gained	-	NC_000011.10:g.72195423C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu108Lys	rs1555069113	missense variant	-	NC_000011.10:g.72195424G>A	-
FOLR1	P15328	p.Glu108Lys	RCV000524015	missense variant	-	NC_000011.10:g.72195424G>A	ClinVar
FOLR1	P15328	p.Asn112Ser	rs1325172613	missense variant	-	NC_000011.10:g.72195437A>G	gnomAD
FOLR1	P15328	p.Asn112Ser	RCV000623117	missense variant	Inborn genetic diseases	NC_000011.10:g.72195437A>G	ClinVar
FOLR1	P15328	p.Pro115Ser	rs749242260	missense variant	-	NC_000011.10:g.72195445C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln118Ter	rs121918405	stop gained	-	NC_000011.10:g.72195454C>T	gnomAD
FOLR1	P15328	p.Gln118Ter	RCV000725453	nonsense	-	NC_000011.10:g.72195454C>T	ClinVar
FOLR1	P15328	p.Gln118Ter	RCV000017643	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195454C>T	ClinVar
FOLR1	P15328	p.Ser123Asn	rs886568002	missense variant	-	NC_000011.10:g.72195622G>A	TOPMed
FOLR1	P15328	p.Trp124Arg	rs1264956352	missense variant	-	NC_000011.10:g.72195624T>C	gnomAD
FOLR1	P15328	p.Arg125Cys	rs752503322	missense variant	-	NC_000011.10:g.72195627C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg125His	rs1202769307	missense variant	-	NC_000011.10:g.72195628G>A	gnomAD
FOLR1	P15328	p.Glu127Lys	rs138331534	missense variant	-	NC_000011.10:g.72195633G>A	ESP,TOPMed
FOLR1	P15328	p.Glu127Gly	rs964480401	missense variant	-	NC_000011.10:g.72195634A>G	TOPMed,gnomAD
FOLR1	P15328	p.Arg128Gln	rs996350831	missense variant	-	NC_000011.10:g.72195637G>A	TOPMed
FOLR1	P15328	p.Arg128Trp	rs200728335	missense variant	-	NC_000011.10:g.72195636C>T	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Val129Ile	rs142717163	missense variant	-	NC_000011.10:g.72195639G>A	ESP,ExAC,gnomAD
FOLR1	P15328	p.Leu130Arg	rs1177732628	missense variant	-	NC_000011.10:g.72195643T>G	gnomAD
FOLR1	P15328	p.Asn131Asp	rs1029995293	missense variant	-	NC_000011.10:g.72195645A>G	TOPMed,gnomAD
FOLR1	P15328	p.Val132Leu	rs749779274	missense variant	-	NC_000011.10:g.72195648G>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Val132Met	rs749779274	missense variant	-	NC_000011.10:g.72195648G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys135Arg	rs774868210	missense variant	-	NC_000011.10:g.72195657T>C	ExAC,gnomAD
FOLR1	P15328	p.Glu137Lys	rs762109657	missense variant	-	NC_000011.10:g.72195663G>A	ExAC,gnomAD
FOLR1	P15328	p.Glu137Asp	rs796052441	missense variant	-	NC_000011.10:g.72195665G>C	TOPMed,gnomAD
FOLR1	P15328	p.Asp138Asn	RCV000187420	missense variant	-	NC_000011.10:g.72195666G>A	ClinVar
FOLR1	P15328	p.Asp138Asn	rs796052442	missense variant	-	NC_000011.10:g.72195666G>A	-
FOLR1	P15328	p.Cys139Gly	rs772484521	missense variant	-	NC_000011.10:g.72195669T>G	ExAC,gnomAD
FOLR1	P15328	p.Trp142Ter	rs772848165	stop gained	-	NC_000011.10:g.72195679G>A	ExAC
FOLR1	P15328	p.Asp145Gly	rs1224242224	missense variant	-	NC_000011.10:g.72195688A>G	gnomAD
FOLR1	P15328	p.Cys146Ter	rs765895524	stop gained	-	NC_000011.10:g.72195692T>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg147Cys	rs1222897077	missense variant	-	NC_000011.10:g.72195693C>T	TOPMed,gnomAD
FOLR1	P15328	p.Arg147His	rs753241819	missense variant	-	NC_000011.10:g.72195694G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg147ArgTerAspArgValLeuLeuLeuLeuProArgValGluCysSerGlyUnk	rs752405847	stop gained	-	NC_000011.10:g.72195695_72195696insTGAGATAGAGTTTTGCTCTTGTTGCCCAGGGTGGAGTGCAGTGGCAC	ExAC
FOLR1	P15328	p.Thr151Ala	rs765019885	missense variant	-	NC_000011.10:g.72195705A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Lys153Asn	rs1393300891	missense variant	-	NC_000011.10:g.72195713G>C	TOPMed,gnomAD
FOLR1	P15328	p.Ser154Arg	rs1438180550	missense variant	-	NC_000011.10:g.72195714A>C	TOPMed,gnomAD
FOLR1	P15328	p.Asn155Asp	rs1438051120	missense variant	-	NC_000011.10:g.72195717A>G	TOPMed
FOLR1	P15328	p.Trp156Gly	rs149320230	missense variant	-	NC_000011.10:g.72195720T>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Lys158Asn	rs750638602	missense variant	-	NC_000011.10:g.72195728G>C	ExAC,gnomAD
FOLR1	P15328	p.Gly165Trp	rs913171756	missense variant	-	NC_000011.10:g.72195747G>T	TOPMed
FOLR1	P15328	p.Gly165Val	rs766443612	missense variant	-	NC_000011.10:g.72195897G>T	ExAC,gnomAD
FOLR1	P15328	p.Cys169Tyr	rs200076509	missense variant	-	NC_000011.10:g.72195909G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala170Thr	RCV000718474	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195911G>A	ClinVar
FOLR1	P15328	p.Ala170Thr	RCV000725204	missense variant	-	NC_000011.10:g.72195911G>A	ClinVar
FOLR1	P15328	p.Ala170Thr	rs139633601	missense variant	-	NC_000011.10:g.72195911G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Val171Leu	rs758857268	missense variant	-	NC_000011.10:g.72195914G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly172Val	rs1247646105	missense variant	-	NC_000011.10:g.72195918G>T	gnomAD
FOLR1	P15328	p.Gly172Ter	rs778286900	stop gained	-	NC_000011.10:g.72195917G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly172Arg	rs778286900	missense variant	-	NC_000011.10:g.72195917G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala173Asp	rs771341970	missense variant	-	NC_000011.10:g.72195921C>A	ExAC,gnomAD
FOLR1	P15328	p.Ala174Pro	rs745598432	missense variant	-	NC_000011.10:g.72195923G>C	ExAC,gnomAD
FOLR1	P15328	p.Cys175Ter	rs121918406	stop gained	-	NC_000011.10:g.72195928C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys175Ter	RCV000017644	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195928C>A	ClinVar
FOLR1	P15328	p.His179Tyr	rs1475933334	missense variant	-	NC_000011.10:g.72195938C>T	gnomAD
FOLR1	P15328	p.Phe180Ser	rs1235524247	missense variant	-	NC_000011.10:g.72195942T>C	TOPMed
FOLR1	P15328	p.Tyr181Cys	rs1185288244	missense variant	-	NC_000011.10:g.72195945A>G	gnomAD
FOLR1	P15328	p.Phe182Leu	rs762574089	missense variant	-	NC_000011.10:g.72195949C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Leu188Val	rs764082504	missense variant	-	NC_000011.10:g.72195965C>G	ExAC,gnomAD
FOLR1	P15328	p.Asn190Ser	rs1383584072	missense variant	-	NC_000011.10:g.72195972A>G	gnomAD
FOLR1	P15328	p.Glu191Asp	rs200414084	missense variant	-	NC_000011.10:g.72195976A>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr194Ser	rs375913176	missense variant	-	NC_000011.10:g.72195983A>T	ESP,ExAC,gnomAD
FOLR1	P15328	p.His195Asn	rs753977934	missense variant	-	NC_000011.10:g.72195986C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.His195Tyr	rs753977934	missense variant	-	NC_000011.10:g.72195986C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Tyr197Cys	rs1165021874	missense variant	-	NC_000011.10:g.72195993A>G	gnomAD
FOLR1	P15328	p.Lys198Arg	rs765467626	missense variant	-	NC_000011.10:g.72195996A>G	ExAC,gnomAD
FOLR1	P15328	p.Ser200Asn	rs1454406848	missense variant	-	NC_000011.10:g.72196002G>A	gnomAD
FOLR1	P15328	p.Asn201Tyr	rs1026331856	missense variant	-	NC_000011.10:g.72196004A>T	TOPMed,gnomAD
FOLR1	P15328	p.Arg204Ter	RCV000494464	nonsense	-	NC_000011.10:g.72196013C>T	ClinVar
FOLR1	P15328	p.Arg204Ter	rs952165627	stop gained	-	NC_000011.10:g.72196013C>T	-
FOLR1	P15328	p.Arg204Gln	rs377725668	missense variant	-	NC_000011.10:g.72196014G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gly205Glu	rs985046746	missense variant	-	NC_000011.10:g.72196017G>A	TOPMed,gnomAD
FOLR1	P15328	p.Arg208Cys	rs1314623649	missense variant	-	NC_000011.10:g.72196025C>T	gnomAD
FOLR1	P15328	p.Arg208His	rs145250531	missense variant	-	NC_000011.10:g.72196026G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln211His	rs747612073	missense variant	-	NC_000011.10:g.72196036G>C	ExAC,gnomAD
FOLR1	P15328	p.Trp213Cys	rs757554598	missense variant	-	NC_000011.10:g.72196042G>C	ExAC,gnomAD
FOLR1	P15328	p.Pro216Leu	rs1241745334	missense variant	-	NC_000011.10:g.72196050C>T	TOPMed,gnomAD
FOLR1	P15328	p.Asn220Lys	rs890104508	missense variant	-	NC_000011.10:g.72196063C>A	TOPMed
FOLR1	P15328	p.Pro221His	rs781647545	missense variant	-	NC_000011.10:g.72196065C>A	ExAC,gnomAD
FOLR1	P15328	p.Asn222Ser	rs745483690	missense variant	-	NC_000011.10:g.72196068A>G	ExAC,gnomAD
FOLR1	P15328	p.Glu223Lys	RCV000701256	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196070G>A	ClinVar
FOLR1	P15328	p.Glu223Gly	rs769520814	missense variant	-	NC_000011.10:g.72196071A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu223Ala	rs769520814	missense variant	-	NC_000011.10:g.72196071A>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu224Lys	rs779884094	missense variant	-	NC_000011.10:g.72196073G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala226Thr	rs1158285428	missense variant	-	NC_000011.10:g.72196079G>A	gnomAD
FOLR1	P15328	p.Ala226Val	rs371399726	missense variant	-	NC_000011.10:g.72196080C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Phe228Leu	rs774152850	missense variant	-	NC_000011.10:g.72196085T>C	ExAC,gnomAD
FOLR1	P15328	p.Tyr229Cys	rs1358361643	missense variant	-	NC_000011.10:g.72196089A>G	gnomAD
FOLR1	P15328	p.Ala231Thr	rs761852124	missense variant	-	NC_000011.10:g.72196094G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala231Val	rs1555069289	missense variant	-	NC_000011.10:g.72196095C>T	-
FOLR1	P15328	p.Ala231Val	RCV000534074	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196095C>T	ClinVar
FOLR1	P15328	p.Ala232Val	rs543710765	missense variant	-	NC_000011.10:g.72196098C>T	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Ala232Thr	rs796052443	missense variant	-	NC_000011.10:g.72196097G>A	-
FOLR1	P15328	p.Ala232Thr	RCV000187422	missense variant	-	NC_000011.10:g.72196097G>A	ClinVar
FOLR1	P15328	p.Met233Leu	rs773012171	missense variant	-	NC_000011.10:g.72196100A>C	ExAC,gnomAD
FOLR1	P15328	p.Met233Val	rs773012171	missense variant	-	NC_000011.10:g.72196100A>G	ExAC,gnomAD
FOLR1	P15328	p.Met233Leu	rs773012171	missense variant	-	NC_000011.10:g.72196100A>T	ExAC,gnomAD
FOLR1	P15328	p.Met233Thr	rs1283420229	missense variant	-	NC_000011.10:g.72196101T>C	gnomAD
FOLR1	P15328	p.Gly235Trp	rs760498273	missense variant	-	NC_000011.10:g.72196106G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly237Trp	rs1411513056	missense variant	-	NC_000011.10:g.72196112G>T	TOPMed
FOLR1	P15328	p.Trp239Arg	rs1225961772	missense variant	-	NC_000011.10:g.72196118T>C	gnomAD
FOLR1	P15328	p.Ala240Val	rs147155003	missense variant	-	NC_000011.10:g.72196122C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala240Val	RCV000724733	missense variant	-	NC_000011.10:g.72196122C>T	ClinVar
FOLR1	P15328	p.Ala240Val	RCV000647363	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196122C>T	ClinVar
FOLR1	P15328	p.Trp242Arg	RCV000187424	missense variant	-	NC_000011.10:g.72196127T>A	ClinVar
FOLR1	P15328	p.Trp242Cys	rs752932113	missense variant	-	NC_000011.10:g.72196129G>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Trp242Ter	RCV000551259	nonsense	Cerebral folate deficiency	NC_000011.10:g.72196129G>A	ClinVar
FOLR1	P15328	p.Trp242Arg	RCV000647364	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196127T>A	ClinVar
FOLR1	P15328	p.Trp242Ter	rs752932113	stop gained	-	NC_000011.10:g.72196129G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Trp242Arg	rs796052445	missense variant	-	NC_000011.10:g.72196127T>A	TOPMed,gnomAD
FOLR1	P15328	p.Pro243Arg	rs1479805229	missense variant	-	NC_000011.10:g.72196131C>G	gnomAD
FOLR1	P15328	p.Pro243Ser	rs1234847513	missense variant	-	NC_000011.10:g.72196130C>T	gnomAD
FOLR1	P15328	p.Phe244Leu	rs1181528047	missense variant	-	NC_000011.10:g.72196133T>C	gnomAD
FOLR1	P15328	p.Leu245Arg	rs1481377477	missense variant	-	NC_000011.10:g.72196137T>G	gnomAD
FOLR1	P15328	p.Ser247Arg	rs1274741193	missense variant	-	NC_000011.10:g.72196142A>C	TOPMed
FOLR1	P15328	p.Met251Thr	rs1410352089	missense variant	-	NC_000011.10:g.72196155T>C	gnomAD
FOLR1	P15328	p.Trp254Cys	rs1034180699	missense variant	-	NC_000011.10:g.72196165G>T	TOPMed
FOLR1	P15328	p.Met1Val	RCV000427429	missense variant	-	NC_000011.10:g.72192174A>G	ClinVar
FOLR1	P15328	p.Ala2Pro	rs1269450657	missense variant	-	NC_000011.10:g.72192177G>C	TOPMed
FOLR1	P15328	p.Gln3Arg	rs1261674339	missense variant	-	NC_000011.10:g.72192181A>G	gnomAD
FOLR1	P15328	p.Arg4Gln	RCV000487548	missense variant	-	NC_000011.10:g.72192184G>A	ClinVar
FOLR1	P15328	p.Arg4Gln	rs145380453	missense variant	-	NC_000011.10:g.72192184G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg4Trp	rs112062510	missense variant	-	NC_000011.10:g.72192183C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg4Leu	rs145380453	missense variant	-	NC_000011.10:g.72192184G>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met5Val	RCV000723894	missense variant	-	NC_000011.10:g.72192186A>G	ClinVar
FOLR1	P15328	p.Met5Val	RCV000793516	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192186A>G	ClinVar
FOLR1	P15328	p.Met5Ile	rs529913828	missense variant	-	NC_000011.10:g.72192188G>A	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Met5Val	rs371565364	missense variant	-	NC_000011.10:g.72192186A>G	1000Genomes,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr6Ile	rs1159477597	missense variant	-	NC_000011.10:g.72192190C>T	TOPMed,gnomAD
FOLR1	P15328	p.Gln8Lys	rs770851094	missense variant	-	NC_000011.10:g.72192195C>A	ExAC,gnomAD
FOLR1	P15328	p.Leu11Phe	rs943751173	missense variant	-	NC_000011.10:g.72192204C>T	TOPMed
FOLR1	P15328	p.Leu12Ter	RCV000596318	frameshift	-	NC_000011.10:g.72192207del	ClinVar
FOLR1	P15328	p.Leu13Pro	rs776579195	missense variant	-	NC_000011.10:g.72192211T>C	ExAC,gnomAD
FOLR1	P15328	p.Val14Ala	rs1288175012	missense variant	-	NC_000011.10:g.72192214T>C	gnomAD
FOLR1	P15328	p.Trp15Gly	rs1379767616	missense variant	-	NC_000011.10:g.72192216T>G	gnomAD
FOLR1	P15328	p.Trp15Cys	rs200261943	missense variant	-	NC_000011.10:g.72192218G>T	1000Genomes,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gly20Ala	RCV000520315	missense variant	-	NC_000011.10:g.72192232G>C	ClinVar
FOLR1	P15328	p.Gly20Ala	rs566120497	missense variant	-	NC_000011.10:g.72192232G>C	1000Genomes,TOPMed
FOLR1	P15328	p.Gly20Glu	rs566120497	missense variant	-	NC_000011.10:g.72192232G>A	1000Genomes,TOPMed
FOLR1	P15328	p.Gly20Arg	rs774539100	missense variant	-	NC_000011.10:g.72192231G>A	ExAC,gnomAD
FOLR1	P15328	p.Gly20Arg	rs774539100	missense variant	-	NC_000011.10:g.72192231G>C	ExAC,gnomAD
FOLR1	P15328	p.Glu21Lys	rs1240345211	missense variant	-	NC_000011.10:g.72192234G>A	gnomAD
FOLR1	P15328	p.Ala22Val	RCV000716016	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72192238C>T	ClinVar
FOLR1	P15328	p.Thr24Ile	rs1038476253	missense variant	-	NC_000011.10:g.72192244C>T	TOPMed,gnomAD
FOLR1	P15328	p.Ala27Gly	rs762158226	missense variant	-	NC_000011.10:g.72192253C>G	ExAC,TOPMed
FOLR1	P15328	p.Trp28Arg	rs7928649	missense variant	-	NC_000011.10:g.72192255T>C	UniProt,dbSNP
FOLR1	P15328	p.Trp28Arg	VAR_059284	missense variant	-	NC_000011.10:g.72192255T>C	UniProt
FOLR1	P15328	p.Trp28Arg	rs7928649	missense variant	-	NC_000011.10:g.72192255T>C	-
FOLR1	P15328	p.Thr31Ser	rs1304635865	missense variant	-	NC_000011.10:g.72192265C>G	TOPMed,gnomAD
FOLR1	P15328	p.Thr31Ile	rs1304635865	missense variant	-	NC_000011.10:g.72192265C>T	TOPMed,gnomAD
FOLR1	P15328	p.Asn35Asp	rs149216939	missense variant	-	NC_000011.10:g.72192276A>G	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Asn35Asp	RCV000556042	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192276A>G	ClinVar
FOLR1	P15328	p.Met38Leu	rs1483857647	missense variant	-	NC_000011.10:g.72192285A>C	TOPMed,gnomAD
FOLR1	P15328	p.Met38Lys	rs750562595	missense variant	-	NC_000011.10:g.72192286T>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met38Ile	rs1241611500	missense variant	-	NC_000011.10:g.72192287G>A	gnomAD
FOLR1	P15328	p.Met38Val	rs1483857647	missense variant	-	NC_000011.10:g.72192285A>G	TOPMed,gnomAD
FOLR1	P15328	p.Met38Thr	rs750562595	missense variant	-	NC_000011.10:g.72192286T>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Asn39Tyr	rs1477467941	missense variant	-	NC_000011.10:g.72192288A>T	TOPMed
FOLR1	P15328	p.Ala40Thr	rs766928917	missense variant	-	NC_000011.10:g.72192291G>A	ExAC,gnomAD
FOLR1	P15328	p.His42Tyr	rs754414177	missense variant	-	NC_000011.10:g.72192297C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.His42Asn	rs754414177	missense variant	-	NC_000011.10:g.72192297C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Pro47Ala	RCV000647365	missense variant	Cerebral folate deficiency	NC_000011.10:g.72192312C>G	ClinVar
FOLR1	P15328	p.Pro47Ala	rs1555068662	missense variant	-	NC_000011.10:g.72192312C>G	-
FOLR1	P15328	p.Gly48Asp	rs1470914938	missense variant	-	NC_000011.10:g.72192316G>A	gnomAD
FOLR1	P15328	p.Glu50Lys	rs1488460520	missense variant	-	NC_000011.10:g.72192321G>A	TOPMed
FOLR1	P15328	p.Asp51Asn	rs777311664	missense variant	-	NC_000011.10:g.72192324G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu55Lys	rs1370692247	missense variant	-	NC_000011.10:g.72192336G>A	TOPMed,gnomAD
FOLR1	P15328	p.Arg58Ter	rs763735285	stop gained	-	NC_000011.10:g.72195274C>T	ExAC,gnomAD
FOLR1	P15328	p.Arg58Gln	rs138575051	missense variant	-	NC_000011.10:g.72195275G>A	1000Genomes,gnomAD
FOLR1	P15328	p.Pro59Arg	rs1275551543	missense variant	-	NC_000011.10:g.72195278C>G	gnomAD
FOLR1	P15328	p.Trp60Leu	rs751184313	missense variant	-	NC_000011.10:g.72195281G>T	ExAC,gnomAD
FOLR1	P15328	p.Ala64Ser	RCV000493078	missense variant	-	NC_000011.10:g.72195292G>T	ClinVar
FOLR1	P15328	p.Ala64Asp	rs1365926784	missense variant	-	NC_000011.10:g.72195293C>A	TOPMed
FOLR1	P15328	p.Ala64Ser	rs1131691637	missense variant	-	NC_000011.10:g.72195292G>T	gnomAD
FOLR1	P15328	p.Cys65Trp	rs1247541422	missense variant	-	NC_000011.10:g.72195297C>G	gnomAD
FOLR1	P15328	p.Cys65Tyr	rs1335969248	missense variant	-	NC_000011.10:g.72195296G>A	TOPMed
FOLR1	P15328	p.Cys66Tyr	rs779015471	missense variant	-	NC_000011.10:g.72195299G>A	ExAC,gnomAD
FOLR1	P15328	p.Asn69Asp	rs780742785	missense variant	-	NC_000011.10:g.72195307A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln72Arg	RCV000723981	missense variant	-	NC_000011.10:g.72195317A>G	ClinVar
FOLR1	P15328	p.Gln72His	rs756090881	missense variant	-	NC_000011.10:g.72195318G>T	ExAC
FOLR1	P15328	p.Gln72Arg	rs148345688	missense variant	-	NC_000011.10:g.72195317A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala74Thr	rs779986083	missense variant	-	NC_000011.10:g.72195322G>A	ExAC,gnomAD
FOLR1	P15328	p.His75Gln	rs749048689	missense variant	-	NC_000011.10:g.72195327T>A	ExAC,gnomAD
FOLR1	P15328	p.Val78Ile	rs1417053720	missense variant	-	NC_000011.10:g.72195334G>A	gnomAD
FOLR1	P15328	p.Tyr82His	rs950917027	missense variant	-	NC_000011.10:g.72195346T>C	TOPMed,gnomAD
FOLR1	P15328	p.Phe84Leu	rs1005890697	missense variant	-	NC_000011.10:g.72195354C>A	TOPMed
FOLR1	P15328	p.Trp86Ter	rs1555069069	stop gained	-	NC_000011.10:g.72195359G>A	-
FOLR1	P15328	p.Trp86Ter	RCV000533599	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195359G>A	ClinVar
FOLR1	P15328	p.Trp86Arg	rs1409176806	missense variant	-	NC_000011.10:g.72195358T>C	gnomAD
FOLR1	P15328	p.His88Tyr	rs1367019932	missense variant	-	NC_000011.10:g.72195364C>T	gnomAD
FOLR1	P15328	p.His88Leu	rs773474550	missense variant	-	NC_000011.10:g.72195365A>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Met92Val	rs771104939	missense variant	-	NC_000011.10:g.72195376A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Pro94Arg	RCV000187418	missense variant	-	NC_000011.10:g.72195383C>G	ClinVar
FOLR1	P15328	p.Pro94Arg	RCV000716070	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195383C>G	ClinVar
FOLR1	P15328	p.Pro94Arg	rs759712157	missense variant	-	NC_000011.10:g.72195383C>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys96Tyr	RCV000415252	missense variant	-	NC_000011.10:g.72195389G>A	ClinVar
FOLR1	P15328	p.Cys96Tyr	rs1057518816	missense variant	-	NC_000011.10:g.72195389G>A	-
FOLR1	P15328	p.Lys97Asn	rs775864895	missense variant	-	NC_000011.10:g.72195393A>T	ExAC,gnomAD
FOLR1	P15328	p.Arg98Trp	RCV000487848	missense variant	-	NC_000011.10:g.72195394C>T	ClinVar
FOLR1	P15328	p.Arg98Trp	rs76191655	missense variant	-	NC_000011.10:g.72195394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg98Gln	rs764420714	missense variant	-	NC_000011.10:g.72195395G>A	ExAC,gnomAD
FOLR1	P15328	p.Asp103Ala	rs751220498	missense variant	-	NC_000011.10:g.72195410A>C	ExAC
FOLR1	P15328	p.Thr104Pro	rs756942461	missense variant	-	NC_000011.10:g.72195412A>C	ExAC,gnomAD
FOLR1	P15328	p.Thr104Asn	rs766989831	missense variant	-	NC_000011.10:g.72195413C>A	ExAC,gnomAD
FOLR1	P15328	p.Cys105Phe	RCV000376883	missense variant	-	NC_000011.10:g.72195416G>T	ClinVar
FOLR1	P15328	p.Cys105Phe	rs755627957	missense variant	-	NC_000011.10:g.72195416G>T	ExAC,gnomAD
FOLR1	P15328	p.Leu106Pro	rs1386926475	missense variant	-	NC_000011.10:g.72195419T>C	gnomAD
FOLR1	P15328	p.Tyr107Ter	rs145674759	stop gained	-	NC_000011.10:g.72195423C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu108Lys	rs1555069113	missense variant	-	NC_000011.10:g.72195424G>A	-
FOLR1	P15328	p.Glu108Lys	RCV000524015	missense variant	-	NC_000011.10:g.72195424G>A	ClinVar
FOLR1	P15328	p.Asn112Ser	rs1325172613	missense variant	-	NC_000011.10:g.72195437A>G	gnomAD
FOLR1	P15328	p.Asn112Ser	RCV000623117	missense variant	Inborn genetic diseases	NC_000011.10:g.72195437A>G	ClinVar
FOLR1	P15328	p.Pro115Ser	rs749242260	missense variant	-	NC_000011.10:g.72195445C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln118Ter	rs121918405	stop gained	-	NC_000011.10:g.72195454C>T	gnomAD
FOLR1	P15328	p.Gln118Ter	RCV000017643	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195454C>T	ClinVar
FOLR1	P15328	p.Gln118Ter	RCV000725453	nonsense	-	NC_000011.10:g.72195454C>T	ClinVar
FOLR1	P15328	p.Ser123Asn	rs886568002	missense variant	-	NC_000011.10:g.72195622G>A	TOPMed
FOLR1	P15328	p.Trp124Arg	rs1264956352	missense variant	-	NC_000011.10:g.72195624T>C	gnomAD
FOLR1	P15328	p.Arg125Cys	rs752503322	missense variant	-	NC_000011.10:g.72195627C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg125His	rs1202769307	missense variant	-	NC_000011.10:g.72195628G>A	gnomAD
FOLR1	P15328	p.Glu127Lys	rs138331534	missense variant	-	NC_000011.10:g.72195633G>A	ESP,TOPMed
FOLR1	P15328	p.Glu127Gly	rs964480401	missense variant	-	NC_000011.10:g.72195634A>G	TOPMed,gnomAD
FOLR1	P15328	p.Arg128Trp	rs200728335	missense variant	-	NC_000011.10:g.72195636C>T	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Arg128Gln	rs996350831	missense variant	-	NC_000011.10:g.72195637G>A	TOPMed
FOLR1	P15328	p.Val129Ile	rs142717163	missense variant	-	NC_000011.10:g.72195639G>A	ESP,ExAC,gnomAD
FOLR1	P15328	p.Leu130Arg	rs1177732628	missense variant	-	NC_000011.10:g.72195643T>G	gnomAD
FOLR1	P15328	p.Asn131Asp	rs1029995293	missense variant	-	NC_000011.10:g.72195645A>G	TOPMed,gnomAD
FOLR1	P15328	p.Val132Leu	rs749779274	missense variant	-	NC_000011.10:g.72195648G>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Val132Met	rs749779274	missense variant	-	NC_000011.10:g.72195648G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys135Arg	rs774868210	missense variant	-	NC_000011.10:g.72195657T>C	ExAC,gnomAD
FOLR1	P15328	p.Glu137Lys	rs762109657	missense variant	-	NC_000011.10:g.72195663G>A	ExAC,gnomAD
FOLR1	P15328	p.Glu137Asp	rs796052441	missense variant	-	NC_000011.10:g.72195665G>C	TOPMed,gnomAD
FOLR1	P15328	p.Asp138Asn	RCV000187420	missense variant	-	NC_000011.10:g.72195666G>A	ClinVar
FOLR1	P15328	p.Asp138Asn	rs796052442	missense variant	-	NC_000011.10:g.72195666G>A	-
FOLR1	P15328	p.Cys139Gly	rs772484521	missense variant	-	NC_000011.10:g.72195669T>G	ExAC,gnomAD
FOLR1	P15328	p.Trp142Ter	rs772848165	stop gained	-	NC_000011.10:g.72195679G>A	ExAC
FOLR1	P15328	p.Asp145Gly	rs1224242224	missense variant	-	NC_000011.10:g.72195688A>G	gnomAD
FOLR1	P15328	p.Cys146Ter	rs765895524	stop gained	-	NC_000011.10:g.72195692T>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Arg147Cys	rs1222897077	missense variant	-	NC_000011.10:g.72195693C>T	TOPMed,gnomAD
FOLR1	P15328	p.Arg147ArgTerAspArgValLeuLeuLeuLeuProArgValGluCysSerGlyUnk	rs752405847	stop gained	-	NC_000011.10:g.72195695_72195696insTGAGATAGAGTTTTGCTCTTGTTGCCCAGGGTGGAGTGCAGTGGCAC	ExAC
FOLR1	P15328	p.Arg147His	rs753241819	missense variant	-	NC_000011.10:g.72195694G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr151Ala	rs765019885	missense variant	-	NC_000011.10:g.72195705A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Lys153Asn	rs1393300891	missense variant	-	NC_000011.10:g.72195713G>C	TOPMed,gnomAD
FOLR1	P15328	p.Ser154Arg	rs1438180550	missense variant	-	NC_000011.10:g.72195714A>C	TOPMed,gnomAD
FOLR1	P15328	p.Asn155Asp	rs1438051120	missense variant	-	NC_000011.10:g.72195717A>G	TOPMed
FOLR1	P15328	p.Trp156Gly	rs149320230	missense variant	-	NC_000011.10:g.72195720T>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Lys158Asn	rs750638602	missense variant	-	NC_000011.10:g.72195728G>C	ExAC,gnomAD
FOLR1	P15328	p.Gly165Trp	rs913171756	missense variant	-	NC_000011.10:g.72195747G>T	TOPMed
FOLR1	P15328	p.Gly165Val	rs766443612	missense variant	-	NC_000011.10:g.72195897G>T	ExAC,gnomAD
FOLR1	P15328	p.Cys169Tyr	rs200076509	missense variant	-	NC_000011.10:g.72195909G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala170Thr	RCV000718474	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.72195911G>A	ClinVar
FOLR1	P15328	p.Ala170Thr	rs139633601	missense variant	-	NC_000011.10:g.72195911G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala170Thr	RCV000725204	missense variant	-	NC_000011.10:g.72195911G>A	ClinVar
FOLR1	P15328	p.Val171Leu	rs758857268	missense variant	-	NC_000011.10:g.72195914G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly172Val	rs1247646105	missense variant	-	NC_000011.10:g.72195918G>T	gnomAD
FOLR1	P15328	p.Gly172Ter	rs778286900	stop gained	-	NC_000011.10:g.72195917G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly172Arg	rs778286900	missense variant	-	NC_000011.10:g.72195917G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala173Asp	rs771341970	missense variant	-	NC_000011.10:g.72195921C>A	ExAC,gnomAD
FOLR1	P15328	p.Ala174Pro	rs745598432	missense variant	-	NC_000011.10:g.72195923G>C	ExAC,gnomAD
FOLR1	P15328	p.Cys175Ter	rs121918406	stop gained	-	NC_000011.10:g.72195928C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Cys175Ter	RCV000017644	nonsense	Cerebral folate deficiency	NC_000011.10:g.72195928C>A	ClinVar
FOLR1	P15328	p.His179Tyr	rs1475933334	missense variant	-	NC_000011.10:g.72195938C>T	gnomAD
FOLR1	P15328	p.Phe180Ser	rs1235524247	missense variant	-	NC_000011.10:g.72195942T>C	TOPMed
FOLR1	P15328	p.Tyr181Cys	rs1185288244	missense variant	-	NC_000011.10:g.72195945A>G	gnomAD
FOLR1	P15328	p.Phe182Leu	rs762574089	missense variant	-	NC_000011.10:g.72195949C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Leu188Val	rs764082504	missense variant	-	NC_000011.10:g.72195965C>G	ExAC,gnomAD
FOLR1	P15328	p.Asn190Ser	rs1383584072	missense variant	-	NC_000011.10:g.72195972A>G	gnomAD
FOLR1	P15328	p.Glu191Asp	rs200414084	missense variant	-	NC_000011.10:g.72195976A>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Thr194Ser	rs375913176	missense variant	-	NC_000011.10:g.72195983A>T	ESP,ExAC,gnomAD
FOLR1	P15328	p.His195Tyr	rs753977934	missense variant	-	NC_000011.10:g.72195986C>T	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.His195Asn	rs753977934	missense variant	-	NC_000011.10:g.72195986C>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Tyr197Cys	rs1165021874	missense variant	-	NC_000011.10:g.72195993A>G	gnomAD
FOLR1	P15328	p.Lys198Arg	rs765467626	missense variant	-	NC_000011.10:g.72195996A>G	ExAC,gnomAD
FOLR1	P15328	p.Ser200Asn	rs1454406848	missense variant	-	NC_000011.10:g.72196002G>A	gnomAD
FOLR1	P15328	p.Asn201Tyr	rs1026331856	missense variant	-	NC_000011.10:g.72196004A>T	TOPMed,gnomAD
FOLR1	P15328	p.Arg204Ter	rs952165627	stop gained	-	NC_000011.10:g.72196013C>T	-
FOLR1	P15328	p.Arg204Ter	RCV000494464	nonsense	-	NC_000011.10:g.72196013C>T	ClinVar
FOLR1	P15328	p.Arg204Gln	rs377725668	missense variant	-	NC_000011.10:g.72196014G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gly205Glu	rs985046746	missense variant	-	NC_000011.10:g.72196017G>A	TOPMed,gnomAD
FOLR1	P15328	p.Arg208Cys	rs1314623649	missense variant	-	NC_000011.10:g.72196025C>T	gnomAD
FOLR1	P15328	p.Arg208His	rs145250531	missense variant	-	NC_000011.10:g.72196026G>A	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Gln211His	rs747612073	missense variant	-	NC_000011.10:g.72196036G>C	ExAC,gnomAD
FOLR1	P15328	p.Trp213Cys	rs757554598	missense variant	-	NC_000011.10:g.72196042G>C	ExAC,gnomAD
FOLR1	P15328	p.Pro216Leu	rs1241745334	missense variant	-	NC_000011.10:g.72196050C>T	TOPMed,gnomAD
FOLR1	P15328	p.Asn220Lys	rs890104508	missense variant	-	NC_000011.10:g.72196063C>A	TOPMed
FOLR1	P15328	p.Pro221His	rs781647545	missense variant	-	NC_000011.10:g.72196065C>A	ExAC,gnomAD
FOLR1	P15328	p.Asn222Ser	rs745483690	missense variant	-	NC_000011.10:g.72196068A>G	ExAC,gnomAD
FOLR1	P15328	p.Glu223Ala	rs769520814	missense variant	-	NC_000011.10:g.72196071A>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu223Lys	RCV000701256	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196070G>A	ClinVar
FOLR1	P15328	p.Glu223Gly	rs769520814	missense variant	-	NC_000011.10:g.72196071A>G	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Glu224Lys	rs779884094	missense variant	-	NC_000011.10:g.72196073G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala226Thr	rs1158285428	missense variant	-	NC_000011.10:g.72196079G>A	gnomAD
FOLR1	P15328	p.Ala226Val	rs371399726	missense variant	-	NC_000011.10:g.72196080C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Phe228Leu	rs774152850	missense variant	-	NC_000011.10:g.72196085T>C	ExAC,gnomAD
FOLR1	P15328	p.Tyr229Cys	rs1358361643	missense variant	-	NC_000011.10:g.72196089A>G	gnomAD
FOLR1	P15328	p.Ala231Thr	rs761852124	missense variant	-	NC_000011.10:g.72196094G>A	ExAC,gnomAD
FOLR1	P15328	p.Ala231Val	rs1555069289	missense variant	-	NC_000011.10:g.72196095C>T	-
FOLR1	P15328	p.Ala231Val	RCV000534074	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196095C>T	ClinVar
FOLR1	P15328	p.Ala232Thr	rs796052443	missense variant	-	NC_000011.10:g.72196097G>A	-
FOLR1	P15328	p.Ala232Val	rs543710765	missense variant	-	NC_000011.10:g.72196098C>T	1000Genomes,ExAC,gnomAD
FOLR1	P15328	p.Ala232Thr	RCV000187422	missense variant	-	NC_000011.10:g.72196097G>A	ClinVar
FOLR1	P15328	p.Met233Leu	rs773012171	missense variant	-	NC_000011.10:g.72196100A>C	ExAC,gnomAD
FOLR1	P15328	p.Met233Val	rs773012171	missense variant	-	NC_000011.10:g.72196100A>G	ExAC,gnomAD
FOLR1	P15328	p.Met233Thr	rs1283420229	missense variant	-	NC_000011.10:g.72196101T>C	gnomAD
FOLR1	P15328	p.Met233Leu	rs773012171	missense variant	-	NC_000011.10:g.72196100A>T	ExAC,gnomAD
FOLR1	P15328	p.Gly235Trp	rs760498273	missense variant	-	NC_000011.10:g.72196106G>T	ExAC,gnomAD
FOLR1	P15328	p.Gly237Trp	rs1411513056	missense variant	-	NC_000011.10:g.72196112G>T	TOPMed
FOLR1	P15328	p.Trp239Arg	rs1225961772	missense variant	-	NC_000011.10:g.72196118T>C	gnomAD
FOLR1	P15328	p.Ala240Val	rs147155003	missense variant	-	NC_000011.10:g.72196122C>T	ESP,ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Ala240Val	RCV000724733	missense variant	-	NC_000011.10:g.72196122C>T	ClinVar
FOLR1	P15328	p.Ala240Val	RCV000647363	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196122C>T	ClinVar
FOLR1	P15328	p.Trp242Arg	rs796052445	missense variant	-	NC_000011.10:g.72196127T>A	TOPMed,gnomAD
FOLR1	P15328	p.Trp242Ter	RCV000551259	nonsense	Cerebral folate deficiency	NC_000011.10:g.72196129G>A	ClinVar
FOLR1	P15328	p.Trp242Arg	RCV000187424	missense variant	-	NC_000011.10:g.72196127T>A	ClinVar
FOLR1	P15328	p.Trp242Cys	rs752932113	missense variant	-	NC_000011.10:g.72196129G>C	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Trp242Ter	rs752932113	stop gained	-	NC_000011.10:g.72196129G>A	ExAC,TOPMed,gnomAD
FOLR1	P15328	p.Trp242Arg	RCV000647364	missense variant	Cerebral folate deficiency	NC_000011.10:g.72196127T>A	ClinVar
FOLR1	P15328	p.Pro243Ser	rs1234847513	missense variant	-	NC_000011.10:g.72196130C>T	gnomAD
FOLR1	P15328	p.Pro243Arg	rs1479805229	missense variant	-	NC_000011.10:g.72196131C>G	gnomAD
FOLR1	P15328	p.Phe244Leu	rs1181528047	missense variant	-	NC_000011.10:g.72196133T>C	gnomAD
FOLR1	P15328	p.Leu245Arg	rs1481377477	missense variant	-	NC_000011.10:g.72196137T>G	gnomAD
FOLR1	P15328	p.Ser247Arg	rs1274741193	missense variant	-	NC_000011.10:g.72196142A>C	TOPMed
FOLR1	P15328	p.Met251Thr	rs1410352089	missense variant	-	NC_000011.10:g.72196155T>C	gnomAD
FOLR1	P15328	p.Trp254Cys	rs1034180699	missense variant	-	NC_000011.10:g.72196165G>T	TOPMed
TIMP2	P16035	p.Gly2Asp	rs989894792	missense variant	-	NC_000017.11:g.78925084C>T	TOPMed,gnomAD
TIMP2	P16035	p.Ala3Val	rs1256421741	missense variant	-	NC_000017.11:g.78925081G>A	TOPMed
TIMP2	P16035	p.Ala3Thr	rs1210843934	missense variant	-	NC_000017.11:g.78925082C>T	TOPMed,gnomAD
TIMP2	P16035	p.Ala5Thr	rs1418208704	missense variant	-	NC_000017.11:g.78925076C>T	TOPMed
TIMP2	P16035	p.Ala5Val	rs1178979887	missense variant	-	NC_000017.11:g.78925075G>A	TOPMed
TIMP2	P16035	p.Arg6Cys	rs1276073498	missense variant	-	NC_000017.11:g.78925073G>A	TOPMed,gnomAD
TIMP2	P16035	p.Arg6Gly	rs1276073498	missense variant	-	NC_000017.11:g.78925073G>C	TOPMed,gnomAD
TIMP2	P16035	p.Arg9Gln	rs957117975	missense variant	-	NC_000017.11:g.78925063C>T	TOPMed
TIMP2	P16035	p.Ala11Val	rs1017940712	missense variant	-	NC_000017.11:g.78925057G>A	TOPMed,gnomAD
TIMP2	P16035	p.Leu14Phe	rs1397601455	missense variant	-	NC_000017.11:g.78925049G>A	TOPMed,gnomAD
TIMP2	P16035	p.Leu14Ile	rs1397601455	missense variant	-	NC_000017.11:g.78925049G>T	TOPMed,gnomAD
TIMP2	P16035	p.Leu16Val	rs1376669167	missense variant	-	NC_000017.11:g.78925043G>C	TOPMed,gnomAD
TIMP2	P16035	p.Leu16Met	rs1376669167	missense variant	-	NC_000017.11:g.78925043G>T	TOPMed,gnomAD
TIMP2	P16035	p.Ala18Gly	rs1302248958	missense variant	-	NC_000017.11:g.78925036G>C	TOPMed,gnomAD
TIMP2	P16035	p.Ala18Glu	rs1302248958	missense variant	-	NC_000017.11:g.78925036G>T	TOPMed,gnomAD
TIMP2	P16035	p.Pro23Ser	rs1031019474	missense variant	-	NC_000017.11:g.78925022G>A	TOPMed,gnomAD
TIMP2	P16035	p.Ala24Val	rs1428089507	missense variant	-	NC_000017.11:g.78925018G>A	gnomAD
TIMP2	P16035	p.Asp25Asn	rs1165727821	missense variant	-	NC_000017.11:g.78925016C>T	gnomAD
TIMP2	P16035	p.Cys27Arg	rs1425988221	missense variant	-	NC_000017.11:g.78925010A>G	gnomAD
TIMP2	P16035	p.Ser30Thr	rs557766081	missense variant	-	NC_000017.11:g.78925001A>T	1000Genomes
TIMP2	P16035	p.Pro31Gln	rs1181798203	missense variant	-	NC_000017.11:g.78924997G>T	TOPMed,gnomAD
TIMP2	P16035	p.Pro31Arg	rs1181798203	missense variant	-	NC_000017.11:g.78924997G>C	TOPMed,gnomAD
TIMP2	P16035	p.Pro34Leu	rs1253377450	missense variant	-	NC_000017.11:g.78924988G>A	gnomAD
TIMP2	P16035	p.Gln36Lys	rs1429193229	missense variant	-	NC_000017.11:g.78924983G>T	TOPMed
TIMP2	P16035	p.Ala37Gly	rs1364756800	missense variant	-	NC_000017.11:g.78924979G>C	gnomAD
TIMP2	P16035	p.Ala47Val	COSM4070228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.78873910G>A	NCI-TCGA Cosmic
TIMP2	P16035	p.Ala47Thr	rs755731698	missense variant	-	NC_000017.11:g.78873911C>T	ExAC,gnomAD
TIMP2	P16035	p.Ala49Val	rs1435606592	missense variant	-	NC_000017.11:g.78873904G>A	gnomAD
TIMP2	P16035	p.Glu52Gly	rs781341882	missense variant	-	NC_000017.11:g.78873895T>C	ExAC,gnomAD
TIMP2	P16035	p.Lys53Met	rs1378758449	missense variant	-	NC_000017.11:g.78873892T>A	TOPMed,gnomAD
TIMP2	P16035	p.Gly58Arg	rs1454985792	missense variant	-	NC_000017.11:g.78873878C>T	gnomAD
TIMP2	P16035	p.Asn64Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78873858G>C	NCI-TCGA
TIMP2	P16035	p.Pro65Ala	rs373951222	missense variant	-	NC_000017.11:g.78873857G>C	ESP,TOPMed,gnomAD
TIMP2	P16035	p.Pro65Arg	rs1477964795	missense variant	-	NC_000017.11:g.78873856G>C	gnomAD
TIMP2	P16035	p.Ile66Met	rs1410997894	missense variant	-	NC_000017.11:g.78873852G>C	TOPMed
TIMP2	P16035	p.Glu72Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78873834C>A	NCI-TCGA
TIMP2	P16035	p.Ile73Met	rs541162688	missense variant	-	NC_000017.11:g.78873831G>C	1000Genomes,ExAC,gnomAD
TIMP2	P16035	p.Gln75Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78873826T>G	NCI-TCGA
TIMP2	P16035	p.Ile76Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78873823A>T	NCI-TCGA
TIMP2	P16035	p.Pro82Ser	rs764543713	missense variant	-	NC_000017.11:g.78870994G>A	ExAC,gnomAD
TIMP2	P16035	p.Glu83Gln	COSM4890902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.78870991C>G	NCI-TCGA Cosmic
TIMP2	P16035	p.Glu83Asp	COSM5436940	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.78870989C>A	NCI-TCGA Cosmic
TIMP2	P16035	p.Lys84Asn	rs1422334761	missense variant	-	NC_000017.11:g.78870986C>G	gnomAD
TIMP2	P16035	p.Asp85Val	rs1214418388	missense variant	-	NC_000017.11:g.78870984T>A	TOPMed
TIMP2	P16035	p.Ile89Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78870971G>C	NCI-TCGA
TIMP2	P16035	p.Tyr90Cys	rs374979973	missense variant	-	NC_000017.11:g.78870969T>C	NCI-TCGA
TIMP2	P16035	p.Tyr90Phe	rs374979973	missense variant	-	NC_000017.11:g.78870969T>A	ESP,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Tyr90Cys	rs374979973	missense variant	-	NC_000017.11:g.78870969T>C	ESP,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Tyr90His	rs761108430	missense variant	-	NC_000017.11:g.78870970A>G	ExAC,gnomAD
TIMP2	P16035	p.Thr91Ala	rs1253720535	missense variant	-	NC_000017.11:g.78870967T>C	gnomAD
TIMP2	P16035	p.Ala92ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.78870959_78870965GGGGGCC>-	NCI-TCGA
TIMP2	P16035	p.Pro93Arg	rs372752139	missense variant	-	NC_000017.11:g.78870960G>C	ESP,ExAC,gnomAD
TIMP2	P16035	p.Ser94Ala	rs747597238	missense variant	-	NC_000017.11:g.78870958A>C	ExAC,gnomAD
TIMP2	P16035	p.Ser94Phe	rs867357033	missense variant	-	NC_000017.11:g.78870957G>A	-
TIMP2	P16035	p.Ser94Phe	rs867357033	missense variant	-	NC_000017.11:g.78870957G>A	NCI-TCGA
TIMP2	P16035	p.Ser95Leu	rs1273715615	missense variant	-	NC_000017.11:g.78870954G>A	NCI-TCGA
TIMP2	P16035	p.Ser95Leu	rs1273715615	missense variant	-	NC_000017.11:g.78870954G>A	gnomAD
TIMP2	P16035	p.Val97Met	rs746899595	missense variant	-	NC_000017.11:g.78870949C>T	ExAC,gnomAD
TIMP2	P16035	p.Val100Phe	rs779039090	missense variant	-	NC_000017.11:g.78870940C>A	ExAC,gnomAD
TIMP2	P16035	p.Val100Ile	rs779039090	missense variant	-	NC_000017.11:g.78870940C>T	ExAC,gnomAD
TIMP2	P16035	p.Ser101Leu	rs368947971	missense variant	-	NC_000017.11:g.78870936G>A	NCI-TCGA,NCI-TCGA Cosmic
TIMP2	P16035	p.Ser101Leu	rs368947971	missense variant	-	NC_000017.11:g.78870936G>A	ESP,TOPMed,gnomAD
TIMP2	P16035	p.Asp103Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78870930T>C	NCI-TCGA
TIMP2	P16035	p.Val104Ile	rs963112143	missense variant	-	NC_000017.11:g.78870928C>T	TOPMed,gnomAD
TIMP2	P16035	p.Val104Ala	rs753866027	missense variant	-	NC_000017.11:g.78870927A>G	ExAC
TIMP2	P16035	p.Val104Gly	rs753866027	missense variant	-	NC_000017.11:g.78870927A>C	ExAC
TIMP2	P16035	p.Gly106Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78870921C>T	NCI-TCGA
TIMP2	P16035	p.Glu109Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78870912T>G	NCI-TCGA
TIMP2	P16035	p.Tyr110Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78870909T>G	NCI-TCGA
TIMP2	P16035	p.Ala113Val	rs1163662057	missense variant	-	NC_000017.11:g.78870900G>A	gnomAD
TIMP2	P16035	p.Gly114Ala	rs774312475	missense variant	-	NC_000017.11:g.78857646C>G	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Ala116Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78857640G>A	NCI-TCGA
TIMP2	P16035	p.Glu117Lys	rs780171870	missense variant	-	NC_000017.11:g.78857638C>T	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Glu117Lys	rs780171870	missense variant	-	NC_000017.11:g.78857638C>T	NCI-TCGA,NCI-TCGA Cosmic
TIMP2	P16035	p.Gly118Arg	rs1295978233	missense variant	-	NC_000017.11:g.78857635C>T	gnomAD
TIMP2	P16035	p.Asp119Tyr	rs141084603	missense variant	-	NC_000017.11:g.78857632C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Asp119GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.78857631_78857632insC	NCI-TCGA
TIMP2	P16035	p.Gly120Ser	rs748140299	missense variant	-	NC_000017.11:g.78857629C>T	ExAC,gnomAD
TIMP2	P16035	p.Gly120Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78857628C>T	NCI-TCGA
TIMP2	P16035	p.Lys121Arg	rs368210736	missense variant	-	NC_000017.11:g.78857625T>C	ESP,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Ile124Val	rs1193724527	missense variant	-	NC_000017.11:g.78857617T>C	gnomAD
TIMP2	P16035	p.Thr125Ile	rs151117827	missense variant	-	NC_000017.11:g.78857613G>A	ESP,ExAC,gnomAD
TIMP2	P16035	p.Thr125Ile	rs151117827	missense variant	-	NC_000017.11:g.78857613G>A	NCI-TCGA
TIMP2	P16035	p.Phe129Val	rs1190296931	missense variant	-	NC_000017.11:g.78857602A>C	TOPMed
TIMP2	P16035	p.Ile130Met	rs145756196	missense variant	-	NC_000017.11:g.78857597G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Val131Met	rs564017292	missense variant	-	NC_000017.11:g.78857596C>T	1000Genomes,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Val131Leu	rs564017292	missense variant	-	NC_000017.11:g.78857596C>G	1000Genomes,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Val131Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78857595A>G	NCI-TCGA
TIMP2	P16035	p.Pro132Leu	rs1488109108	missense variant	-	NC_000017.11:g.78857592G>A	gnomAD
TIMP2	P16035	p.Thr135Ser	rs752340133	missense variant	-	NC_000017.11:g.78857584T>A	ExAC,gnomAD
TIMP2	P16035	p.Thr135Ile	rs1343309412	missense variant	-	NC_000017.11:g.78857583G>A	gnomAD
TIMP2	P16035	p.Thr135Ala	rs752340133	missense variant	-	NC_000017.11:g.78857584T>C	ExAC,gnomAD
TIMP2	P16035	p.Leu136Met	rs759112616	missense variant	-	NC_000017.11:g.78857581G>T	ExAC,gnomAD
TIMP2	P16035	p.Thr138Ile	rs774255476	missense variant	-	NC_000017.11:g.78857574G>A	ExAC,gnomAD
TIMP2	P16035	p.Thr138Ala	rs1319416210	missense variant	-	NC_000017.11:g.78857575T>C	gnomAD
TIMP2	P16035	p.Thr139Ala	COSM985281	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.78857572T>C	NCI-TCGA Cosmic
TIMP2	P16035	p.Ser143Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78857559C>T	NCI-TCGA
TIMP2	P16035	p.His146Arg	rs544106882	missense variant	-	NC_000017.11:g.78857550T>C	1000Genomes,ExAC,gnomAD
TIMP2	P16035	p.Glu153Lys	rs750649540	missense variant	-	NC_000017.11:g.78857530C>T	NCI-TCGA
TIMP2	P16035	p.Glu153Lys	rs750649540	missense variant	-	NC_000017.11:g.78857530C>T	-
TIMP2	P16035	p.Thr157Met	rs143729470	missense variant	-	NC_000017.11:g.78855860G>A	ESP,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Arg158His	rs1358820636	missense variant	-	NC_000017.11:g.78855857C>T	TOPMed,gnomAD
TIMP2	P16035	p.Arg158Leu	rs1358820636	missense variant	-	NC_000017.11:g.78855857C>A	TOPMed,gnomAD
TIMP2	P16035	p.Arg158Cys	rs775894136	missense variant	-	NC_000017.11:g.78855858G>A	ExAC,gnomAD
TIMP2	P16035	p.Pro160Leu	rs772274106	missense variant	-	NC_000017.11:g.78855851G>A	ExAC,gnomAD
TIMP2	P16035	p.Met161Thr	rs148747195	missense variant	-	NC_000017.11:g.78855848A>G	ESP,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Met161Ile	rs774860290	missense variant	-	NC_000017.11:g.78855847C>T	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Met161Val	rs1172701741	missense variant	-	NC_000017.11:g.78855849T>C	TOPMed
TIMP2	P16035	p.Met161Ile	rs774860290	missense variant	-	NC_000017.11:g.78855847C>G	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Pro163Leu	rs771343314	missense variant	-	NC_000017.11:g.78855842G>A	ExAC,gnomAD
TIMP2	P16035	p.Tyr165His	rs944053311	missense variant	-	NC_000017.11:g.78855837A>G	gnomAD
TIMP2	P16035	p.Ser168Phe	rs1046955427	missense variant	-	NC_000017.11:g.78855827G>A	TOPMed
TIMP2	P16035	p.Ser168Tyr	rs1046955427	missense variant	-	NC_000017.11:g.78855827G>T	TOPMed
TIMP2	P16035	p.Pro169Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78855824G>T	NCI-TCGA
TIMP2	P16035	p.Pro169Leu	rs201018196	missense variant	-	NC_000017.11:g.78855824G>A	ESP,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Asp170Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78855822C>T	NCI-TCGA
TIMP2	P16035	p.Leu173Pro	rs769578055	missense variant	-	NC_000017.11:g.78855812A>G	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Met175Val	rs1366219491	missense variant	-	NC_000017.11:g.78855807T>C	gnomAD
TIMP2	P16035	p.Glu180Gly	rs917627335	missense variant	-	NC_000017.11:g.78855791T>C	TOPMed
TIMP2	P16035	p.Glu180Lys	rs1344433839	missense variant	-	NC_000017.11:g.78855792C>T	gnomAD
TIMP2	P16035	p.Asn184Ser	rs757916824	missense variant	-	NC_000017.11:g.78855779T>C	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Gly185Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78855776C>T	NCI-TCGA
TIMP2	P16035	p.Ala188Thr	rs370391888	missense variant	-	NC_000017.11:g.78855768C>T	ESP,ExAC,gnomAD
TIMP2	P16035	p.Ala188Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.78855767G>A	NCI-TCGA
TIMP2	P16035	p.Ala192Thr	rs753641012	missense variant	-	NC_000017.11:g.78855756C>T	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Cys193Ser	rs1173847302	missense variant	-	NC_000017.11:g.78855752C>G	TOPMed
TIMP2	P16035	p.Lys195Asn	rs1172257519	missense variant	-	NC_000017.11:g.78855745C>G	gnomAD
TIMP2	P16035	p.Gly199Asp	rs956450165	missense variant	-	NC_000017.11:g.78855734C>T	TOPMed
TIMP2	P16035	p.Ala202Val	rs1235478767	missense variant	-	NC_000017.11:g.78855725G>A	gnomAD
TIMP2	P16035	p.Ala202Thr	rs1484122131	missense variant	-	NC_000017.11:g.78855726C>T	TOPMed,gnomAD
TIMP2	P16035	p.Tyr204Ter	rs759589817	stop gained	-	NC_000017.11:g.78855718G>C	ExAC,gnomAD
TIMP2	P16035	p.Arg205Cys	rs774322385	missense variant	-	NC_000017.11:g.78855717G>A	ExAC,gnomAD
TIMP2	P16035	p.Arg205His	rs771417379	missense variant	-	NC_000017.11:g.78855716C>T	ExAC,gnomAD
TIMP2	P16035	p.Gly206Ser	rs773751172	missense variant	-	NC_000017.11:g.78855714C>T	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Ala207Thr	rs201845164	missense variant	-	NC_000017.11:g.78855711C>T	1000Genomes,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Ala207Gly	rs775066324	missense variant	-	NC_000017.11:g.78855710G>C	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Ala207Val	rs775066324	missense variant	-	NC_000017.11:g.78855710G>A	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Ala208Val	rs745343765	missense variant	-	NC_000017.11:g.78855707G>A	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Pro209Leu	rs997866208	missense variant	-	NC_000017.11:g.78855704G>A	TOPMed
TIMP2	P16035	p.Pro209Ser	rs1463612469	missense variant	-	NC_000017.11:g.78855705G>A	gnomAD
TIMP2	P16035	p.Pro210Arg	rs1165072095	missense variant	-	NC_000017.11:g.78855701G>C	gnomAD
TIMP2	P16035	p.Lys211SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.78855700G>-	NCI-TCGA
TIMP2	P16035	p.Glu213Lys	rs756830236	missense variant	-	NC_000017.11:g.78855693C>T	ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Asp216His	rs570205003	missense variant	-	NC_000017.11:g.78855684C>G	1000Genomes,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Asp216Asn	rs570205003	missense variant	-	NC_000017.11:g.78855684C>T	1000Genomes,ExAC,TOPMed,gnomAD
TIMP2	P16035	p.Ile217Leu	rs578083142	missense variant	-	NC_000017.11:g.78855681T>G	ExAC,gnomAD
TIMP2	P16035	p.Ile217Val	rs578083142	missense variant	-	NC_000017.11:g.78855681T>C	ExAC,gnomAD
TIMP2	P16035	p.Glu218Lys	rs1250792593	missense variant	-	NC_000017.11:g.78855678C>T	gnomAD
ACAN	P16112	p.Met1Ile	RCV000419116	missense variant	-	NC_000015.10:g.88836209G>A	ClinVar
ACAN	P16112	p.Thr2Ile	rs770071622	missense variant	-	NC_000015.10:g.88836211C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu4Ser	rs202166561	missense variant	-	NC_000015.10:g.88836217T>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu5Phe	rs371249232	missense variant	-	NC_000015.10:g.88836219C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu5Pro	rs1363665841	missense variant	-	NC_000015.10:g.88836220T>C	TOPMed
ACAN	P16112	p.Trp6Arg	rs1300824260	missense variant	-	NC_000015.10:g.88836222T>C	TOPMed
ACAN	P16112	p.Trp6Ter	rs1447022229	stop gained	-	NC_000015.10:g.88836223G>A	TOPMed
ACAN	P16112	p.Val9Met	rs776631256	missense variant	-	NC_000015.10:g.88836231G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr10Ser	rs1422976124	missense variant	-	NC_000015.10:g.88836235C>G	TOPMed
ACAN	P16112	p.Arg12Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88836241G>A	NCI-TCGA
ACAN	P16112	p.Ala16Val	rs1325083323	missense variant	-	NC_000015.10:g.88836253C>T	gnomAD
ACAN	P16112	p.Ala17Val	rs761719517	missense variant	-	NC_000015.10:g.88836256C>T	TOPMed
ACAN	P16112	p.Ala17Ser	rs766063753	missense variant	-	NC_000015.10:g.88836255G>T	ExAC,gnomAD
ACAN	P16112	p.Glu21Gln	rs754672128	missense variant	-	NC_000015.10:g.88836267G>C	ExAC,gnomAD
ACAN	P16112	p.Asp24Glu	rs571206900	missense variant	-	NC_000015.10:g.88838664C>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.His25Asn	rs1198280822	missense variant	-	NC_000015.10:g.88838665C>A	gnomAD
ACAN	P16112	p.Asp26Glu	rs1250848987	missense variant	-	NC_000015.10:g.88838670C>A	gnomAD
ACAN	P16112	p.Asn27Asp	rs1329297647	missense variant	-	NC_000015.10:g.88838671A>G	TOPMed
ACAN	P16112	p.Asn27Ser	rs752419278	missense variant	-	NC_000015.10:g.88838672A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser28Trp	rs148320028	missense variant	-	NC_000015.10:g.88838675C>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser30Arg	rs751144925	missense variant	-	NC_000015.10:g.88838682T>G	ExAC,gnomAD
ACAN	P16112	p.Ser30Asn	rs1324649266	missense variant	-	NC_000015.10:g.88838681G>A	TOPMed
ACAN	P16112	p.Ser30Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838681G>C	NCI-TCGA
ACAN	P16112	p.Val31Ile	rs1041254006	missense variant	-	NC_000015.10:g.88838683G>A	TOPMed
ACAN	P16112	p.Ile33Met	rs757687541	missense variant	-	NC_000015.10:g.88838691C>G	ExAC,gnomAD
ACAN	P16112	p.Pro34Thr	rs550784997	missense variant	-	NC_000015.10:g.88838692C>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Pro34Ser	rs550784997	missense variant	-	NC_000015.10:g.88838692C>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Gln35Leu	rs746169178	missense variant	-	NC_000015.10:g.88838696A>T	ExAC
ACAN	P16112	p.Gln35AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88838691C>-	NCI-TCGA
ACAN	P16112	p.Pro36Ser	rs770179538	missense variant	-	NC_000015.10:g.88838698C>T	ExAC,gnomAD
ACAN	P16112	p.Pro36Leu	rs1374390440	missense variant	-	NC_000015.10:g.88838699C>T	TOPMed,gnomAD
ACAN	P16112	p.Ser37Pro	rs536525136	missense variant	-	NC_000015.10:g.88838701T>C	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Pro38Leu	rs548534627	missense variant	-	NC_000015.10:g.88838705C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg40Ser	rs374081272	missense variant	-	NC_000015.10:g.88838712G>T	TOPMed,gnomAD
ACAN	P16112	p.Arg40Lys	rs748319031	missense variant	-	NC_000015.10:g.88838711G>A	ExAC,gnomAD
ACAN	P16112	p.Val41Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838713G>A	NCI-TCGA
ACAN	P16112	p.Leu43Val	rs1269536364	missense variant	-	NC_000015.10:g.88838719C>G	TOPMed
ACAN	P16112	p.Gly44Arg	COSM3887700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838722G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Thr45Asn	rs759354442	missense variant	-	NC_000015.10:g.88838726C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser46Phe	COSM3887702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838729C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Leu47Phe	rs775463088	missense variant	-	NC_000015.10:g.88838731C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr48Ile	rs1279018978	missense variant	-	NC_000015.10:g.88838735C>T	TOPMed
ACAN	P16112	p.Thr48Ile	rs1279018978	missense variant	-	NC_000015.10:g.88838735C>T	NCI-TCGA
ACAN	P16112	p.Ile49Met	rs1249230063	missense variant	-	NC_000015.10:g.88838739C>G	gnomAD
ACAN	P16112	p.Pro50Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838740C>T	NCI-TCGA
ACAN	P16112	p.Cys51Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838744G>A	NCI-TCGA
ACAN	P16112	p.Ile54Val	rs1220719528	missense variant	-	NC_000015.10:g.88838752A>G	TOPMed
ACAN	P16112	p.Asp55Gly	rs370110892	missense variant	-	NC_000015.10:g.88838756A>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp55Tyr	rs763861381	missense variant	-	NC_000015.10:g.88838755G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp55Asn	rs763861381	missense variant	-	NC_000015.10:g.88838755G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Met57Thr	rs998783686	missense variant	-	NC_000015.10:g.88838762T>C	TOPMed
ACAN	P16112	p.Met57Ile	rs750953875	missense variant	-	NC_000015.10:g.88838763G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Met57Val	rs1159549993	missense variant	-	NC_000015.10:g.88838761A>G	TOPMed,gnomAD
ACAN	P16112	p.His58Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838766C>A	NCI-TCGA
ACAN	P16112	p.His58Pro	rs1463725285	missense variant	-	NC_000015.10:g.88838765A>C	gnomAD
ACAN	P16112	p.Pro59Ser	COSM3505077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838767C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Pro59Arg	rs1296607237	missense variant	-	NC_000015.10:g.88838768C>G	gnomAD
ACAN	P16112	p.Thr62Asn	rs200239326	missense variant	-	NC_000015.10:g.88838777C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr62Asn	RCV000294749	missense variant	-	NC_000015.10:g.88838777C>A	ClinVar
ACAN	P16112	p.Ala63Thr	rs749720584	missense variant	-	NC_000015.10:g.88838779G>A	ExAC,gnomAD
ACAN	P16112	p.Ala63Gly	rs1245147885	missense variant	-	NC_000015.10:g.88838780C>G	gnomAD
ACAN	P16112	p.Pro64Ser	rs1178817726	missense variant	-	NC_000015.10:g.88838782C>T	gnomAD
ACAN	P16112	p.Pro64Leu	rs1296036330	missense variant	-	NC_000015.10:g.88838783C>T	gnomAD
ACAN	P16112	p.Ser65Pro	rs1169765470	missense variant	-	NC_000015.10:g.88838785T>C	TOPMed
ACAN	P16112	p.Ser65Tyr	rs755142678	missense variant	-	NC_000015.10:g.88838786C>A	ExAC,gnomAD
ACAN	P16112	p.Ser65Tyr	rs755142678	missense variant	-	NC_000015.10:g.88838786C>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Thr66Ile	rs748136311	missense variant	-	NC_000015.10:g.88838789C>T	ExAC,gnomAD
ACAN	P16112	p.Ala67Val	rs969717268	missense variant	-	NC_000015.10:g.88838792C>T	TOPMed
ACAN	P16112	p.Ala67Thr	RCV000521389	missense variant	-	NC_000015.10:g.88838791G>A	ClinVar
ACAN	P16112	p.Ala67Gly	rs969717268	missense variant	-	NC_000015.10:g.88838792C>G	TOPMed
ACAN	P16112	p.Ala67Thr	rs182894280	missense variant	-	NC_000015.10:g.88838791G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro68Gln	rs773473572	missense variant	-	NC_000015.10:g.88838795C>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Pro68Gln	rs773473572	missense variant	-	NC_000015.10:g.88838795C>A	ExAC,gnomAD
ACAN	P16112	p.Arg72Ser	rs769916642	missense variant	-	NC_000015.10:g.88838808A>T	ExAC,gnomAD
ACAN	P16112	p.Arg72Gly	rs1443393833	missense variant	-	NC_000015.10:g.88838806A>G	gnomAD
ACAN	P16112	p.Ile73Val	rs775409722	missense variant	-	NC_000015.10:g.88838809A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Trp75Ter	rs1168641758	stop gained	-	NC_000015.10:g.88838817G>A	gnomAD
ACAN	P16112	p.Trp75Arg	RCV000508987	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88838815T>C	ClinVar
ACAN	P16112	p.Trp75Arg	rs1555453695	missense variant	-	NC_000015.10:g.88838815T>C	NCI-TCGA
ACAN	P16112	p.Trp75Arg	rs1555453695	missense variant	-	NC_000015.10:g.88838815T>C	-
ACAN	P16112	p.Ser76Thr	rs1399907758	missense variant	-	NC_000015.10:g.88838819G>C	gnomAD
ACAN	P16112	p.Arg77His	RCV000514420	missense variant	-	NC_000015.10:g.88838822G>A	ClinVar
ACAN	P16112	p.Arg77His	rs199701329	missense variant	-	NC_000015.10:g.88838822G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg77Cys	rs575468209	missense variant	-	NC_000015.10:g.88838821C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val78Ala	rs1403917136	missense variant	-	NC_000015.10:g.88838825T>C	gnomAD
ACAN	P16112	p.Ser79Pro	rs1228970627	missense variant	-	NC_000015.10:g.88838827T>C	TOPMed
ACAN	P16112	p.Lys80Gln	rs1344272498	missense variant	-	NC_000015.10:g.88838830A>C	TOPMed
ACAN	P16112	p.Lys80Arg	rs972979581	missense variant	-	NC_000015.10:g.88838831A>G	TOPMed,gnomAD
ACAN	P16112	p.Glu81Gly	rs373267308	missense variant	-	NC_000015.10:g.88838834A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu81Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838834A>T	NCI-TCGA
ACAN	P16112	p.Val84Leu	rs766995595	missense variant	-	NC_000015.10:g.88838842G>T	ExAC,gnomAD
ACAN	P16112	p.Leu87Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838852T>C	NCI-TCGA
ACAN	P16112	p.Val88Ala	rs1380028477	missense variant	-	NC_000015.10:g.88838855T>C	TOPMed
ACAN	P16112	p.Ala89Thr	rs1280525388	missense variant	-	NC_000015.10:g.88838857G>A	gnomAD
ACAN	P16112	p.Glu91Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838864A>G	NCI-TCGA
ACAN	P16112	p.Glu91Lys	rs1304801486	missense variant	-	NC_000015.10:g.88838863G>A	TOPMed
ACAN	P16112	p.Gly92Trp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838866G>T	NCI-TCGA
ACAN	P16112	p.Arg93Cys	rs565318742	missense variant	-	NC_000015.10:g.88838869C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Arg93Gly	rs565318742	missense variant	-	NC_000015.10:g.88838869C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg93Ter	RCV000508990	frameshift	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88838865del	ClinVar
ACAN	P16112	p.Arg93His	rs376202313	missense variant	-	NC_000015.10:g.88838870G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Arg93Cys	rs565318742	missense variant	-	NC_000015.10:g.88838869C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg93His	rs376202313	missense variant	-	NC_000015.10:g.88838870G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val94Leu	rs370626315	missense variant	-	NC_000015.10:g.88838872G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val94Leu	rs370626315	missense variant	-	NC_000015.10:g.88838872G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val94Met	rs370626315	missense variant	-	NC_000015.10:g.88838872G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val94Met	rs370626315	missense variant	-	NC_000015.10:g.88838872G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Arg95Trp	rs767131816	missense variant	-	NC_000015.10:g.88838875C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg95Gln	rs539804190	missense variant	-	NC_000015.10:g.88838876G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg95Trp	rs767131816	missense variant	-	NC_000015.10:g.88838875C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Val96Phe	rs1183183130	missense variant	-	NC_000015.10:g.88838878G>T	TOPMed
ACAN	P16112	p.Asn97Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838882A>G	NCI-TCGA
ACAN	P16112	p.Ser98Arg	rs1479458927	missense variant	-	NC_000015.10:g.88838886T>G	TOPMed
ACAN	P16112	p.Tyr100Asp	rs777992997	missense variant	-	NC_000015.10:g.88838890T>G	ExAC,gnomAD
ACAN	P16112	p.Gln101Arg	rs1185203543	missense variant	-	NC_000015.10:g.88838894A>G	gnomAD
ACAN	P16112	p.Gln101Glu	COSM3969323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838893C>G	NCI-TCGA Cosmic
ACAN	P16112	p.Asp102Gly	rs769793742	missense variant	-	NC_000015.10:g.88838897A>G	ExAC,gnomAD
ACAN	P16112	p.Asp102Glu	rs16942318	missense variant	-	NC_000015.10:g.88838898C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp102Glu	rs16942318	missense variant	-	NC_000015.10:g.88838898C>A	UniProt,dbSNP
ACAN	P16112	p.Asp102Glu	VAR_056152	missense variant	-	NC_000015.10:g.88838898C>A	UniProt
ACAN	P16112	p.Ser105Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.88838906C>A	NCI-TCGA
ACAN	P16112	p.Pro107Ser	rs749000770	missense variant	-	NC_000015.10:g.88838911C>T	ExAC,gnomAD
ACAN	P16112	p.Pro107Thr	COSM3969325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838911C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Asn108Ser	rs761498283	missense variant	-	NC_000015.10:g.88838915A>G	ExAC,gnomAD
ACAN	P16112	p.Asn108Lys	rs771780380	missense variant	-	NC_000015.10:g.88838916C>A	ExAC,gnomAD
ACAN	P16112	p.Asn108His	rs774066700	missense variant	-	NC_000015.10:g.88838914A>C	ExAC,gnomAD
ACAN	P16112	p.Asn108Lys	rs771780380	missense variant	-	NC_000015.10:g.88838916C>G	ExAC,gnomAD
ACAN	P16112	p.Pro110Leu	rs370458786	missense variant	-	NC_000015.10:g.88838921C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala111Ser	COSM268560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838923G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ala111Asp	rs1297420839	missense variant	-	NC_000015.10:g.88838924C>A	gnomAD
ACAN	P16112	p.Ile112Asn	rs1406407025	missense variant	-	NC_000015.10:g.88838927T>A	gnomAD
ACAN	P16112	p.Ser114Gly	rs1222211543	missense variant	-	NC_000015.10:g.88838932A>G	TOPMed
ACAN	P16112	p.Asp115Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88838935G>A	NCI-TCGA
ACAN	P16112	p.Ala116Thr	rs760009352	missense variant	-	NC_000015.10:g.88838938G>A	ExAC,gnomAD
ACAN	P16112	p.Ala116Thr	rs760009352	missense variant	-	NC_000015.10:g.88838938G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Glu119Gln	rs1285733229	missense variant	-	NC_000015.10:g.88838947G>C	gnomAD
ACAN	P16112	p.Val120Phe	rs550721325	missense variant	-	NC_000015.10:g.88838950G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln121Arg	rs1426384878	missense variant	-	NC_000015.10:g.88838954A>G	gnomAD
ACAN	P16112	p.Ser122Asn	rs1414392408	missense variant	-	NC_000015.10:g.88838957G>A	gnomAD
ACAN	P16112	p.Arg124Cys	rs201105250	missense variant	-	NC_000015.10:g.88838962C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg124His	rs757439227	missense variant	-	NC_000015.10:g.88838963G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Arg124Cys	rs201105250	missense variant	-	NC_000015.10:g.88838962C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Arg124His	rs757439227	missense variant	-	NC_000015.10:g.88838963G>A	ExAC,gnomAD
ACAN	P16112	p.Asn126Ser	rs1477811556	missense variant	-	NC_000015.10:g.88838969A>G	gnomAD
ACAN	P16112	p.Asn126Tyr	rs780095199	missense variant	-	NC_000015.10:g.88838968A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn126His	rs780095199	missense variant	-	NC_000015.10:g.88838968A>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser128Phe	rs1403191177	missense variant	-	NC_000015.10:g.88838975C>T	gnomAD
ACAN	P16112	p.Arg132Cys	rs550510196	missense variant	-	NC_000015.10:g.88838986C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg132Leu	rs768518689	missense variant	-	NC_000015.10:g.88838987G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg132His	rs768518689	missense variant	-	NC_000015.10:g.88838987G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu134Lys	rs372054790	missense variant	-	NC_000015.10:g.88838992G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Met136Ile	rs772856511	missense variant	-	NC_000015.10:g.88839000G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Met136Lys	rs1182504090	missense variant	-	NC_000015.10:g.88838999T>A	TOPMed
ACAN	P16112	p.Gly138Ala	rs760138666	missense variant	-	NC_000015.10:g.88839005G>C	ExAC,gnomAD
ACAN	P16112	p.Glu140Lys	rs776044877	missense variant	-	NC_000015.10:g.88839010G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu140Lys	rs776044877	missense variant	-	NC_000015.10:g.88839010G>A	NCI-TCGA
ACAN	P16112	p.Ser142Arg	rs961426109	missense variant	-	NC_000015.10:g.88839018C>A	TOPMed,gnomAD
ACAN	P16112	p.Glu143Asp	rs765720290	missense variant	-	NC_000015.10:g.88839021G>C	ExAC,gnomAD
ACAN	P16112	p.Glu143Lys	rs372286756	missense variant	-	NC_000015.10:g.88839019G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu143Lys	rs372286756	missense variant	-	NC_000015.10:g.88839019G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Ala144Thr	rs1285887151	missense variant	-	NC_000015.10:g.88839022G>A	gnomAD
ACAN	P16112	p.Thr145Ile	rs763410231	missense variant	-	NC_000015.10:g.88839026C>T	ExAC,gnomAD
ACAN	P16112	p.Thr145Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88839025A>G	NCI-TCGA
ACAN	P16112	p.Val148Ile	COSM3505081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88839034G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Val148Ala	rs1234683634	missense variant	-	NC_000015.10:g.88839035T>C	gnomAD
ACAN	P16112	p.Val149Met	rs1177970558	missense variant	-	NC_000015.10:g.88839037G>A	TOPMed,gnomAD
ACAN	P16112	p.Val149Met	rs1177970558	missense variant	-	NC_000015.10:g.88839037G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gly152Ser	rs1385830351	missense variant	-	NC_000015.10:g.88839046G>A	gnomAD
ACAN	P16112	p.Ile153Met	rs758371121	missense variant	-	NC_000015.10:g.88840016C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val154Met	rs370113313	missense variant	-	NC_000015.10:g.88840017G>A	ESP,TOPMed,gnomAD
ACAN	P16112	p.His156Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88840023C>T	NCI-TCGA
ACAN	P16112	p.Ala159Pro	rs1195138124	missense variant	-	NC_000015.10:g.88840032G>C	gnomAD
ACAN	P16112	p.Ile160Leu	rs1240142040	missense variant	-	NC_000015.10:g.88840035A>C	gnomAD
ACAN	P16112	p.Ser161Tyr	rs777539705	missense variant	-	NC_000015.10:g.88840039C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg163Cys	rs1176629215	missense variant	-	NC_000015.10:g.88840044C>T	TOPMed,gnomAD
ACAN	P16112	p.Arg163Ser	rs1176629215	missense variant	-	NC_000015.10:g.88840044C>A	TOPMed,gnomAD
ACAN	P16112	p.Arg163His	rs746862356	missense variant	-	NC_000015.10:g.88840045G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg163Cys	rs1176629215	missense variant	-	NC_000015.10:g.88840044C>T	NCI-TCGA
ACAN	P16112	p.Tyr164His	rs1467735139	missense variant	-	NC_000015.10:g.88840047T>C	gnomAD
ACAN	P16112	p.Thr165Ser	rs1002148043	missense variant	-	NC_000015.10:g.88840050A>T	gnomAD
ACAN	P16112	p.Thr165Asn	rs1383254411	missense variant	-	NC_000015.10:g.88840051C>A	gnomAD
ACAN	P16112	p.Asp167Asn	rs780709119	missense variant	-	NC_000015.10:g.88840056G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Phe168Leu	rs769205516	missense variant	-	NC_000015.10:g.88840061T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg170Lys	rs367881858	missense variant	-	NC_000015.10:g.88840066G>A	ESP,TOPMed,gnomAD
ACAN	P16112	p.Ala171Val	RCV000658170	missense variant	-	NC_000015.10:g.88840069C>T	ClinVar
ACAN	P16112	p.Ala171Val	rs371065660	missense variant	-	NC_000015.10:g.88840069C>T	ESP,TOPMed,gnomAD
ACAN	P16112	p.Arg173Gln	rs769356878	missense variant	-	NC_000015.10:g.88840075G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg173Trp	rs374211268	missense variant	-	NC_000015.10:g.88840074C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg173Trp	rs374211268	missense variant	-	NC_000015.10:g.88840074C>T	NCI-TCGA
ACAN	P16112	p.Arg173Gln	rs769356878	missense variant	-	NC_000015.10:g.88840075G>A	NCI-TCGA
ACAN	P16112	p.Ala174Val	rs767714238	missense variant	-	NC_000015.10:g.88840078C>T	ExAC,gnomAD
ACAN	P16112	p.Ala174Thr	rs762284114	missense variant	-	NC_000015.10:g.88840077G>A	ExAC,gnomAD
ACAN	P16112	p.Ala174Asp	rs767714238	missense variant	-	NC_000015.10:g.88840078C>A	ExAC,gnomAD
ACAN	P16112	p.Asn178Ile	rs1328842971	missense variant	-	NC_000015.10:g.88840090A>T	TOPMed
ACAN	P16112	p.Asn178TyrGly	NCI-TCGA novel	insertion	-	NC_000015.10:g.88840090_88840091insTTATGG	NCI-TCGA
ACAN	P16112	p.Ser179Asn	rs766337526	missense variant	-	NC_000015.10:g.88840093G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile181Asn	rs199602867	missense variant	-	NC_000015.10:g.88840099T>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile182Thr	rs1023774324	missense variant	-	NC_000015.10:g.88840102T>C	TOPMed,gnomAD
ACAN	P16112	p.Ala183Val	rs1293500351	missense variant	-	NC_000015.10:g.88840105C>T	TOPMed
ACAN	P16112	p.Ala183Val	rs1293500351	missense variant	-	NC_000015.10:g.88840105C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Thr184Met	rs771509541	missense variant	-	NC_000015.10:g.88840108C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro185Thr	rs751285545	missense variant	-	NC_000015.10:g.88840110C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro185Leu	rs1241121346	missense variant	-	NC_000015.10:g.88840111C>T	gnomAD
ACAN	P16112	p.Ala190Thr	rs374984332	missense variant	-	NC_000015.10:g.88840125G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala191Val	rs1487339387	missense variant	-	NC_000015.10:g.88840129C>T	TOPMed,gnomAD
ACAN	P16112	p.Ala191Thr	rs527447898	missense variant	-	NC_000015.10:g.88840128G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala191Thr	rs527447898	missense variant	-	NC_000015.10:g.88840128G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Tyr192Cys	rs755834901	missense variant	-	NC_000015.10:g.88840132A>G	ExAC,gnomAD
ACAN	P16112	p.Tyr192Cys	rs755834901	missense variant	-	NC_000015.10:g.88840132A>G	NCI-TCGA
ACAN	P16112	p.Glu193Lys	rs748868363	missense variant	-	NC_000015.10:g.88840134G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp194Glu	COSM6143204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88840139C>G	NCI-TCGA Cosmic
ACAN	P16112	p.Gly195Asp	rs779568883	missense variant	-	NC_000015.10:g.88840141G>A	ExAC,gnomAD
ACAN	P16112	p.Gly195Ser	rs1002162958	missense variant	-	NC_000015.10:g.88840140G>A	TOPMed,gnomAD
ACAN	P16112	p.Cys199Tyr	rs1293105853	missense variant	-	NC_000015.10:g.88840153G>A	gnomAD
ACAN	P16112	p.Ala201Ser	rs568955745	missense variant	-	NC_000015.10:g.88840158G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala201Thr	rs568955745	missense variant	-	NC_000015.10:g.88840158G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly202Ser	rs771241836	missense variant	-	NC_000015.10:g.88840161G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly202Ser	rs771241836	missense variant	-	NC_000015.10:g.88840161G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Leu204Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88840167C>A	NCI-TCGA
ACAN	P16112	p.Asp206Gly	rs1246618380	missense variant	-	NC_000015.10:g.88840174A>G	gnomAD
ACAN	P16112	p.Gln207Ter	rs1316897563	stop gained	-	NC_000015.10:g.88840176C>T	gnomAD
ACAN	P16112	p.Thr208Ile	rs1319651016	missense variant	-	NC_000015.10:g.88840180C>T	gnomAD
ACAN	P16112	p.Arg210Gly	rs776632256	missense variant	-	NC_000015.10:g.88840185A>G	ExAC,gnomAD
ACAN	P16112	p.Pro212Ala	rs1311025520	missense variant	-	NC_000015.10:g.88841744C>G	gnomAD
ACAN	P16112	p.Thr215Ala	rs758772503	missense variant	-	NC_000015.10:g.88841753A>G	ExAC,TOPMed
ACAN	P16112	p.Pro216Leu	rs191442526	missense variant	-	NC_000015.10:g.88841757C>T	1000Genomes
ACAN	P16112	p.Arg217Gly	rs370993153	missense variant	-	NC_000015.10:g.88841759C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg217Gln	rs757637229	missense variant	-	NC_000015.10:g.88841760G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg217Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88841760G>C	NCI-TCGA
ACAN	P16112	p.Arg217Gln	rs757637229	missense variant	-	NC_000015.10:g.88841760G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Arg217Trp	rs370993153	missense variant	-	NC_000015.10:g.88841759C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly219Val	rs781581989	missense variant	-	NC_000015.10:g.88841766G>T	ExAC,gnomAD
ACAN	P16112	p.Cys220Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88841769G>C	NCI-TCGA
ACAN	P16112	p.Tyr221Cys	rs746056428	missense variant	-	NC_000015.10:g.88841772A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp223Gly	COSM6078111	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88841778A>G	NCI-TCGA Cosmic
ACAN	P16112	p.Asp223Asn	rs374644024	missense variant	-	NC_000015.10:g.88841777G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Lys224Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88841782G>T	NCI-TCGA
ACAN	P16112	p.Asp225Tyr	rs1453170652	missense variant	-	NC_000015.10:g.88841783G>T	TOPMed
ACAN	P16112	p.Asp225Asn	COSM5936107	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88841783G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Asp225Gly	COSM4929942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88841784A>G	NCI-TCGA Cosmic
ACAN	P16112	p.Glu226Lys	rs749403999	missense variant	-	NC_000015.10:g.88841786G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro228Ser	rs1354451023	missense variant	-	NC_000015.10:g.88841792C>T	TOPMed
ACAN	P16112	p.Gly229Asp	rs1413857102	missense variant	-	NC_000015.10:g.88841796G>A	gnomAD
ACAN	P16112	p.Arg231Ser	rs1362249306	missense variant	-	NC_000015.10:g.88841803G>C	gnomAD
ACAN	P16112	p.Thr232Met	rs771842029	missense variant	-	NC_000015.10:g.88841805C>T	NCI-TCGA
ACAN	P16112	p.Thr232Met	rs771842029	missense variant	-	NC_000015.10:g.88841805C>T	ExAC,gnomAD
ACAN	P16112	p.Thr232Arg	rs771842029	missense variant	-	NC_000015.10:g.88841805C>G	ExAC,gnomAD
ACAN	P16112	p.Gly234Ala	rs776609333	missense variant	-	NC_000015.10:g.88841811G>C	ExAC,gnomAD
ACAN	P16112	p.Ile235Phe	rs759248879	missense variant	-	NC_000015.10:g.88841813A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg236Gln	rs764993901	missense variant	-	NC_000015.10:g.88841817G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg236Gln	rs764993901	missense variant	-	NC_000015.10:g.88841817G>A	NCI-TCGA
ACAN	P16112	p.Thr238Ile	rs1275734191	missense variant	-	NC_000015.10:g.88841823C>T	TOPMed
ACAN	P16112	p.Asn239Ser	rs757955838	missense variant	-	NC_000015.10:g.88841826A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn239Thr	rs757955838	missense variant	-	NC_000015.10:g.88841826A>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu240Lys	rs200578079	missense variant	-	NC_000015.10:g.88841828G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Glu240Lys	rs200578079	missense variant	-	NC_000015.10:g.88841828G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr241Ile	rs757798845	missense variant	-	NC_000015.10:g.88841832C>T	ExAC,gnomAD
ACAN	P16112	p.Thr241Ile	rs757798845	missense variant	-	NC_000015.10:g.88841832C>T	NCI-TCGA
ACAN	P16112	p.Tyr242Cys	rs1285750375	missense variant	-	NC_000015.10:g.88841835A>G	gnomAD
ACAN	P16112	p.Val244Ala	rs1363057099	missense variant	-	NC_000015.10:g.88841841T>C	TOPMed
ACAN	P16112	p.Phe247Leu	rs746292202	missense variant	-	NC_000015.10:g.88841849T>C	ExAC,gnomAD
ACAN	P16112	p.Ala248Thr	rs564289325	missense variant	-	NC_000015.10:g.88841852G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala248Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88841852G>C	NCI-TCGA
ACAN	P16112	p.Ala248Ser	rs564289325	missense variant	-	NC_000015.10:g.88841852G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu249Asp	rs768804104	missense variant	-	NC_000015.10:g.88841857G>C	ExAC,gnomAD
ACAN	P16112	p.Glu249Lys	rs560781973	missense variant	-	NC_000015.10:g.88841855G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu250Lys	rs1348825150	missense variant	-	NC_000015.10:g.88841858G>A	TOPMed,gnomAD
ACAN	P16112	p.Met251Leu	rs774343061	missense variant	-	NC_000015.10:g.88841861A>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Met251Thr	rs528232598	missense variant	-	NC_000015.10:g.88841862T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu252Asp	rs920232909	missense variant	-	NC_000015.10:g.88841866G>C	gnomAD
ACAN	P16112	p.Glu252Lys	COSM3505085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88841864G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Val255Ala	rs761319997	missense variant	-	NC_000015.10:g.88843361T>C	ExAC,gnomAD
ACAN	P16112	p.Val255Ile	rs377286945	missense variant	-	NC_000015.10:g.88843360G>A	ESP,ExAC,gnomAD
ACAN	P16112	p.Ala258Val	rs1416647652	missense variant	-	NC_000015.10:g.88843370C>T	gnomAD
ACAN	P16112	p.Ser260Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88843376C>A	NCI-TCGA
ACAN	P16112	p.Thr265Asn	rs767977103	missense variant	-	NC_000015.10:g.88843391C>A	ExAC,gnomAD
ACAN	P16112	p.Gln267Glu	rs761136902	missense variant	-	NC_000015.10:g.88843396C>G	ExAC,gnomAD
ACAN	P16112	p.Ala269Pro	rs766735190	missense variant	-	NC_000015.10:g.88843402G>C	ExAC,gnomAD
ACAN	P16112	p.Asn271Ser	rs754225607	missense variant	-	NC_000015.10:g.88843409A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn271Ile	rs754225607	missense variant	-	NC_000015.10:g.88843409A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu272Lys	COSM3794490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88843411G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Cys273Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88843415G>A	NCI-TCGA
ACAN	P16112	p.Arg274Trp	rs369870175	missense variant	-	NC_000015.10:g.88843417C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg274Trp	rs369870175	missense variant	-	NC_000015.10:g.88843417C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Arg274Gln	rs373432805	missense variant	-	NC_000015.10:g.88843418G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg275Trp	rs1198605516	missense variant	-	NC_000015.10:g.88843420C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Arg275Gln	rs34949187	missense variant	-	NC_000015.10:g.88843421G>A	UniProt,dbSNP
ACAN	P16112	p.Arg275Gln	VAR_056153	missense variant	-	NC_000015.10:g.88843421G>A	UniProt
ACAN	P16112	p.Arg275Gln	rs34949187	missense variant	-	NC_000015.10:g.88843421G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg275Trp	rs1198605516	missense variant	-	NC_000015.10:g.88843420C>T	gnomAD
ACAN	P16112	p.Gly277Val	rs1309739026	missense variant	-	NC_000015.10:g.88843427G>T	TOPMed
ACAN	P16112	p.Gly277Ser	COSM1129070	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88843426G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Arg279Pro	rs184913582	missense variant	-	NC_000015.10:g.88843433G>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg279Trp	rs745766545	missense variant	-	NC_000015.10:g.88843432C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg279Gln	rs184913582	missense variant	-	NC_000015.10:g.88843433G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr283Met	rs749047801	missense variant	-	NC_000015.10:g.88843445C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr283Lys	rs749047801	missense variant	-	NC_000015.10:g.88843445C>A	NCI-TCGA
ACAN	P16112	p.Thr283Lys	rs749047801	missense variant	-	NC_000015.10:g.88843445C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr283Ala	rs1378791702	missense variant	-	NC_000015.10:g.88843444A>G	gnomAD
ACAN	P16112	p.Gln285His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88843452G>T	NCI-TCGA
ACAN	P16112	p.Leu286Phe	rs774028386	missense variant	-	NC_000015.10:g.88843453C>T	ExAC,gnomAD
ACAN	P16112	p.Leu286Val	rs774028386	missense variant	-	NC_000015.10:g.88843453C>G	ExAC,gnomAD
ACAN	P16112	p.Tyr287Cys	rs747612281	missense variant	-	NC_000015.10:g.88843457A>G	ExAC,gnomAD
ACAN	P16112	p.Ala289Asp	rs771549237	missense variant	-	NC_000015.10:g.88843463C>A	ExAC
ACAN	P16112	p.Trp290Gly	rs772749915	missense variant	-	NC_000015.10:g.88843465T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln291Ter	rs761241049	stop gained	-	NC_000015.10:g.88843468C>T	ExAC,gnomAD
ACAN	P16112	p.Ala292Thr	rs766854282	missense variant	-	NC_000015.10:g.88843471G>A	ExAC,gnomAD
ACAN	P16112	p.Ala292Val	rs915488953	missense variant	-	NC_000015.10:g.88843472C>T	gnomAD
ACAN	P16112	p.Ala292Gly	rs915488953	missense variant	-	NC_000015.10:g.88843472C>G	gnomAD
ACAN	P16112	p.Gly293Asp	rs776985817	missense variant	-	NC_000015.10:g.88843475G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly293Ala	rs776985817	missense variant	-	NC_000015.10:g.88843475G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Met294Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88843479G>T	NCI-TCGA
ACAN	P16112	p.Asp295Gly	rs1364192775	missense variant	-	NC_000015.10:g.88843481A>G	TOPMed
ACAN	P16112	p.Asp295Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88843480G>A	NCI-TCGA
ACAN	P16112	p.Met296Leu	rs759847781	missense variant	-	NC_000015.10:g.88843483A>C	ExAC,gnomAD
ACAN	P16112	p.Met296Thr	rs558565679	missense variant	-	NC_000015.10:g.88843484T>C	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Met296Ile	rs1183769629	missense variant	-	NC_000015.10:g.88843485G>T	TOPMed
ACAN	P16112	p.Ser298Asn	rs752944661	missense variant	-	NC_000015.10:g.88843490G>A	ExAC,gnomAD
ACAN	P16112	p.Ala299Val	rs1003014165	missense variant	-	NC_000015.10:g.88843493C>T	TOPMed,gnomAD
ACAN	P16112	p.Ala299Thr	rs764260441	missense variant	-	NC_000015.10:g.88843492G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala299Asp	rs1003014165	missense variant	-	NC_000015.10:g.88843493C>A	TOPMed,gnomAD
ACAN	P16112	p.Gly300Ser	rs746931049	missense variant	-	NC_000015.10:g.88843495G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly300Ser	RCV000424243	missense variant	-	NC_000015.10:g.88843495G>A	ClinVar
ACAN	P16112	p.Leu302Pro	rs1430909928	missense variant	-	NC_000015.10:g.88843502T>C	gnomAD
ACAN	P16112	p.Ala303Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88843505C>T	NCI-TCGA
ACAN	P16112	p.Ala303Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88843504G>A	NCI-TCGA
ACAN	P16112	p.Arg305Cys	rs372895171	missense variant	-	NC_000015.10:g.88843510C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg305Leu	rs768504322	missense variant	-	NC_000015.10:g.88843511G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg305Ser	rs372895171	missense variant	-	NC_000015.10:g.88843510C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg305His	rs768504322	missense variant	-	NC_000015.10:g.88843511G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg305Gly	rs372895171	missense variant	-	NC_000015.10:g.88843510C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val307Met	rs778732470	missense variant	-	NC_000015.10:g.88843516G>A	ExAC,gnomAD
ACAN	P16112	p.Arg308Cys	rs1294296622	missense variant	-	NC_000015.10:g.88843519C>T	gnomAD
ACAN	P16112	p.Arg308His	rs747767483	missense variant	-	NC_000015.10:g.88843520G>A	NCI-TCGA
ACAN	P16112	p.Arg308His	rs747767483	missense variant	-	NC_000015.10:g.88843520G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Lys313Thr	rs1377648176	missense variant	-	NC_000015.10:g.88843535A>C	gnomAD
ACAN	P16112	p.Ala314Gly	rs772697028	missense variant	-	NC_000015.10:g.88843538C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala314Asp	rs772697028	missense variant	-	NC_000015.10:g.88843538C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala314Ser	rs1242151781	missense variant	-	NC_000015.10:g.88843537G>T	gnomAD
ACAN	P16112	p.Ala314Ser	rs1242151781	missense variant	-	NC_000015.10:g.88843537G>T	NCI-TCGA
ACAN	P16112	p.Arg315Gln	rs1266883825	missense variant	-	NC_000015.10:g.88843541G>A	gnomAD
ACAN	P16112	p.Arg315Trp	rs771427434	missense variant	-	NC_000015.10:g.88843540C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn317Ser	rs760137135	missense variant	-	NC_000015.10:g.88843547A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn317Lys	rs1238182380	missense variant	-	NC_000015.10:g.88843548C>A	gnomAD
ACAN	P16112	p.Gly319Ser	rs1044441746	missense variant	-	NC_000015.10:g.88843552G>A	TOPMed
ACAN	P16112	p.Gly319Asp	rs1464364807	missense variant	-	NC_000015.10:g.88843553G>A	TOPMed
ACAN	P16112	p.Gly320Val	rs1428448258	missense variant	-	NC_000015.10:g.88843556G>T	TOPMed
ACAN	P16112	p.Gly324Val	COSM702217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88843568G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Val325Leu	rs200118502	missense variant	-	NC_000015.10:g.88843570G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val325Met	rs200118502	missense variant	-	NC_000015.10:g.88843570G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val325Leu	rs200118502	missense variant	-	NC_000015.10:g.88843570G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr327Pro	rs751588853	missense variant	-	NC_000015.10:g.88843576A>C	ExAC,gnomAD
ACAN	P16112	p.Val328Ile	rs1162747201	missense variant	-	NC_000015.10:g.88843579G>A	gnomAD
ACAN	P16112	p.Val328Ile	rs1162747201	missense variant	-	NC_000015.10:g.88843579G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Val330Leu	rs766293702	missense variant	-	NC_000015.10:g.88843585G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val330Met	rs766293702	missense variant	-	NC_000015.10:g.88843585G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val330Met	rs766293702	missense variant	-	NC_000015.10:g.88843585G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.His331Gln	rs570748192	missense variant	-	NC_000015.10:g.88843590T>A	TOPMed,gnomAD
ACAN	P16112	p.His331Asn	rs753701070	missense variant	-	NC_000015.10:g.88843588C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn333Ser	rs776721559	missense variant	-	NC_000015.10:g.88843595A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr335Met	rs370865297	missense variant	-	NC_000015.10:g.88843601C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr335Met	rs370865297	missense variant	-	NC_000015.10:g.88843601C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Gly336Cys	rs1243539781	missense variant	-	NC_000015.10:g.88843603G>T	gnomAD
ACAN	P16112	p.Gly336Ser	rs1243539781	missense variant	-	NC_000015.10:g.88843603G>A	gnomAD
ACAN	P16112	p.Pro338Leu	rs374218750	missense variant	-	NC_000015.10:g.88843610C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro338Ala	rs777432522	missense variant	-	NC_000015.10:g.88843609C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro338Arg	rs374218750	missense variant	-	NC_000015.10:g.88843610C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro338Leu	rs374218750	missense variant	-	NC_000015.10:g.88843610C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Pro338Leu	RCV000430818	missense variant	-	NC_000015.10:g.88843610C>T	ClinVar
ACAN	P16112	p.Pro338Ser	rs777432522	missense variant	-	NC_000015.10:g.88843609C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp339Tyr	rs746352037	missense variant	-	NC_000015.10:g.88843612G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp339Val	rs989568054	missense variant	-	NC_000015.10:g.88843613A>T	TOPMed
ACAN	P16112	p.Asp339Asn	rs746352037	missense variant	-	NC_000015.10:g.88843612G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Asp339Glu	rs915505446	missense variant	-	NC_000015.10:g.88843614C>A	TOPMed,gnomAD
ACAN	P16112	p.Asp339Asn	rs746352037	missense variant	-	NC_000015.10:g.88843612G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro340Leu	COSM3505093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88843616C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser341Leu	rs1405125406	missense variant	-	NC_000015.10:g.88843619C>T	TOPMed
ACAN	P16112	p.Arg343Cys	rs376508432	missense variant	-	NC_000015.10:g.88843624C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg343His	rs763412179	missense variant	-	NC_000015.10:g.88843625G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr344His	rs768962559	missense variant	-	NC_000015.10:g.88843627T>C	ExAC,gnomAD
ACAN	P16112	p.Tyr344Cys	rs774462118	missense variant	-	NC_000015.10:g.88843628A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp345Asn	rs767467522	missense variant	-	NC_000015.10:g.88843630G>A	ExAC,gnomAD
ACAN	P16112	p.Ala346Thr	rs545729531	missense variant	-	NC_000015.10:g.88843633G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr349Cys	rs79832113	missense variant	-	NC_000015.10:g.88843643A>G	1000Genomes,ExAC,TOPMed
ACAN	P16112	p.Gly351Asp	rs1013537550	missense variant	-	NC_000015.10:g.88845505G>A	TOPMed,gnomAD
ACAN	P16112	p.Asp353Val	rs1000707476	missense variant	-	NC_000015.10:g.88845511A>T	TOPMed,gnomAD
ACAN	P16112	p.Phe354Tyr	rs749910732	missense variant	-	NC_000015.10:g.88845514T>A	ExAC,gnomAD
ACAN	P16112	p.Val355Ala	rs755711052	missense variant	-	NC_000015.10:g.88845517T>C	ExAC,gnomAD
ACAN	P16112	p.Asp356Asn	rs1024890615	missense variant	-	NC_000015.10:g.88845519G>A	NCI-TCGA
ACAN	P16112	p.Asp356Asn	rs1024890615	missense variant	-	NC_000015.10:g.88845519G>A	-
ACAN	P16112	p.Pro358Ser	COSM3887706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845525C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Asn360Ile	rs1296678557	missense variant	-	NC_000015.10:g.88845532A>T	gnomAD
ACAN	P16112	p.Asn360Lys	rs549170099	missense variant	-	NC_000015.10:g.88845533C>A	1000Genomes
ACAN	P16112	p.Phe361Leu	COSM1181532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845536C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gly365Ala	rs567446094	missense variant	-	NC_000015.10:g.88845547G>C	1000Genomes
ACAN	P16112	p.Gly366ValPheSerTerUnkUnk	COSM5121740	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.88845545G>-	NCI-TCGA Cosmic
ACAN	P16112	p.Gly366Arg	rs1438051316	missense variant	-	NC_000015.10:g.88845549G>C	gnomAD
ACAN	P16112	p.Gly366Asp	rs755579927	missense variant	-	NC_000015.10:g.88845550G>A	ExAC,gnomAD
ACAN	P16112	p.Glu367Ter	COSM1375255	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.88845544_88845545insG	NCI-TCGA Cosmic
ACAN	P16112	p.Glu368Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88845555G>A	NCI-TCGA
ACAN	P16112	p.Glu368Asp	rs950735603	missense variant	-	NC_000015.10:g.88845557G>C	TOPMed
ACAN	P16112	p.Ile370Val	rs1180913087	missense variant	-	NC_000015.10:g.88845561A>G	TOPMed
ACAN	P16112	p.Val372Ile	rs372762081	missense variant	-	NC_000015.10:g.88845567G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln373Leu	rs1356248639	missense variant	-	NC_000015.10:g.88845571A>T	gnomAD
ACAN	P16112	p.Thr374Ile	rs773517396	missense variant	-	NC_000015.10:g.88845574C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr374Ala	COSM4932465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845573A>G	NCI-TCGA Cosmic
ACAN	P16112	p.Thr374Arg	rs773517396	missense variant	-	NC_000015.10:g.88845574C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val375Ala	rs747278844	missense variant	-	NC_000015.10:g.88845577T>C	ExAC,gnomAD
ACAN	P16112	p.Thr376Ser	rs377176198	missense variant	-	NC_000015.10:g.88845580C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Trp377CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88845583G>-	NCI-TCGA
ACAN	P16112	p.Trp377Arg	rs776758695	missense variant	-	NC_000015.10:g.88845582T>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro378Thr	rs762863511	missense variant	-	NC_000015.10:g.88845585C>A	ExAC,gnomAD
ACAN	P16112	p.Asp379Asn	rs764102419	missense variant	-	NC_000015.10:g.88845588G>A	ExAC,gnomAD
ACAN	P16112	p.Met380Ile	rs1002450754	missense variant	-	NC_000015.10:g.88845593G>A	TOPMed,gnomAD
ACAN	P16112	p.Glu381Asp	rs1239815051	missense variant	-	NC_000015.10:g.88845596G>C	gnomAD
ACAN	P16112	p.Pro383Gln	rs974959270	missense variant	-	NC_000015.10:g.88845601C>A	gnomAD
ACAN	P16112	p.Leu384Val	rs1221062169	missense variant	-	NC_000015.10:g.88845603C>G	NCI-TCGA
ACAN	P16112	p.Leu384Val	rs1221062169	missense variant	-	NC_000015.10:g.88845603C>G	gnomAD
ACAN	P16112	p.Arg386Gly	rs773948197	missense variant	-	NC_000015.10:g.88845609C>G	ExAC,gnomAD
ACAN	P16112	p.Arg386Gln	rs761696605	missense variant	-	NC_000015.10:g.88845610G>A	ExAC,gnomAD
ACAN	P16112	p.Arg386Ter	rs773948197	stop gained	-	NC_000015.10:g.88845609C>T	ExAC,gnomAD
ACAN	P16112	p.Arg386Gln	rs761696605	missense variant	-	NC_000015.10:g.88845610G>A	NCI-TCGA
ACAN	P16112	p.Arg386Ter	RCV000595381	nonsense	-	NC_000015.10:g.88845609C>T	ClinVar
ACAN	P16112	p.Ile388Val	rs767026007	missense variant	-	NC_000015.10:g.88845615A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly391Cys	rs369041225	missense variant	-	NC_000015.10:g.88845624G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly391Val	rs1393024677	missense variant	-	NC_000015.10:g.88845625G>T	gnomAD
ACAN	P16112	p.Glu392Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.88845627G>T	NCI-TCGA
ACAN	P16112	p.Ala393Ser	rs1440861231	missense variant	-	NC_000015.10:g.88845630G>T	gnomAD
ACAN	P16112	p.Arg394Gln	rs200709031	missense variant	-	NC_000015.10:g.88845634G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly395Ser	rs117772298	missense variant	-	NC_000015.10:g.88845636G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly395Arg	rs117772298	missense variant	-	NC_000015.10:g.88845636G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser396Thr	rs371018764	missense variant	-	NC_000015.10:g.88845640G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser396Ile	rs371018764	missense variant	-	NC_000015.10:g.88845640G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser396Asn	rs371018764	missense variant	-	NC_000015.10:g.88845640G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser396Arg	rs572438161	missense variant	-	NC_000015.10:g.88845641C>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val397Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88845643T>C	NCI-TCGA
ACAN	P16112	p.Val397Met	rs748422617	missense variant	-	NC_000015.10:g.88845642G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile398Asn	rs1555454545	missense variant	-	NC_000015.10:g.88845646T>A	-
ACAN	P16112	p.Ile398Asn	RCV000510778	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88845646T>A	ClinVar
ACAN	P16112	p.Leu399Phe	rs758765920	missense variant	-	NC_000015.10:g.88845648C>T	ExAC,gnomAD
ACAN	P16112	p.Val401Ile	rs200027891	missense variant	-	NC_000015.10:g.88845654G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Lys402Asn	rs1477522275	missense variant	-	NC_000015.10:g.88845659G>C	TOPMed
ACAN	P16112	p.Lys402Glu	rs554949381	missense variant	-	NC_000015.10:g.88845657A>G	1000Genomes,gnomAD
ACAN	P16112	p.Pro403His	rs368795077	missense variant	-	NC_000015.10:g.88845661C>A	ESP,ExAC,gnomAD
ACAN	P16112	p.Ile404Val	rs148070768	missense variant	-	NC_000015.10:g.88845663A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile404Met	rs1180906927	missense variant	-	NC_000015.10:g.88845665C>G	gnomAD
ACAN	P16112	p.Glu406Asp	rs576493396	missense variant	-	NC_000015.10:g.88845671G>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Glu406Lys	rs774443075	missense variant	-	NC_000015.10:g.88845669G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val407Phe	rs543647411	missense variant	-	NC_000015.10:g.88845672G>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Ser408Phe	rs773211569	missense variant	-	NC_000015.10:g.88845676C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser408Cys	rs773211569	missense variant	-	NC_000015.10:g.88845676C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser408Phe	rs773211569	missense variant	-	NC_000015.10:g.88845676C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Pro409Arg	rs200227191	missense variant	-	NC_000015.10:g.88845679C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro409Leu	rs200227191	missense variant	-	NC_000015.10:g.88845679C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser410Ter	RCV000624642	frameshift	Inborn genetic diseases	NC_000015.10:g.88845680del	ClinVar
ACAN	P16112	p.Ser410Gly	rs766146982	missense variant	-	NC_000015.10:g.88845681A>G	ExAC,gnomAD
ACAN	P16112	p.Pro411Ser	rs754551623	missense variant	-	NC_000015.10:g.88845684C>T	ExAC,gnomAD
ACAN	P16112	p.Leu412Gln	rs1291712383	missense variant	-	NC_000015.10:g.88845688T>A	TOPMed,gnomAD
ACAN	P16112	p.Leu412Pro	rs1291712383	missense variant	-	NC_000015.10:g.88845688T>C	TOPMed,gnomAD
ACAN	P16112	p.Glu415Lys	rs758892087	missense variant	-	NC_000015.10:g.88845696G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu415Ter	RCV000760304	nonsense	-	NC_000015.10:g.88845696G>T	ClinVar
ACAN	P16112	p.Glu415Ter	rs758892087	stop gained	-	NC_000015.10:g.88845696G>T	NCI-TCGA
ACAN	P16112	p.Glu415Lys	rs758892087	missense variant	-	NC_000015.10:g.88845696G>A	NCI-TCGA
ACAN	P16112	p.Glu416Lys	rs370296999	missense variant	-	NC_000015.10:g.88845699G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu416Lys	RCV000400099	missense variant	-	NC_000015.10:g.88845699G>A	ClinVar
ACAN	P16112	p.Pro417Ala	rs1168550629	missense variant	-	NC_000015.10:g.88845702C>G	gnomAD
ACAN	P16112	p.Thr419Pro	rs757403740	missense variant	-	NC_000015.10:g.88845708A>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr419Met	rs374286796	missense variant	-	NC_000015.10:g.88845709C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro422Arg	rs769892728	missense variant	-	NC_000015.10:g.88845718C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile424Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88845725A>G	NCI-TCGA
ACAN	P16112	p.Ala426Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88845729G>A	NCI-TCGA
ACAN	P16112	p.Ala426Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88845730C>T	NCI-TCGA
ACAN	P16112	p.Thr427Ile	rs1046914898	missense variant	-	NC_000015.10:g.88845733C>T	TOPMed,gnomAD
ACAN	P16112	p.Thr427Ala	rs748112955	missense variant	-	NC_000015.10:g.88845732A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Phe429Leu	rs975263307	missense variant	-	NC_000015.10:g.88845738T>C	TOPMed,gnomAD
ACAN	P16112	p.Ala430Ser	rs367659235	missense variant	-	NC_000015.10:g.88845741G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala430Thr	rs367659235	missense variant	-	NC_000015.10:g.88845741G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu431Lys	rs1403501275	missense variant	-	NC_000015.10:g.88845744G>A	gnomAD
ACAN	P16112	p.Val432Phe	rs770670042	missense variant	-	NC_000015.10:g.88845747G>T	ExAC,gnomAD
ACAN	P16112	p.Glu433Asp	rs372157525	missense variant	-	NC_000015.10:g.88845752G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu433Lys	rs776371059	missense variant	-	NC_000015.10:g.88845750G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu435Ter	COSM1478445	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.88845756G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Thr436Ser	rs995483050	missense variant	-	NC_000015.10:g.88845759A>T	TOPMed
ACAN	P16112	p.Gly437Glu	COSM702215	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845763G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Glu438Gly	rs1026505771	missense variant	-	NC_000015.10:g.88845766A>G	TOPMed
ACAN	P16112	p.Arg441Thr	rs1400771992	missense variant	-	NC_000015.10:g.88845775G>C	gnomAD
ACAN	P16112	p.Pro446Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88845789C>T	NCI-TCGA
ACAN	P16112	p.Thr447Ile	rs764796784	missense variant	-	NC_000015.10:g.88845793C>T	ExAC,gnomAD
ACAN	P16112	p.Thr447Ala	rs1324712408	missense variant	-	NC_000015.10:g.88845792A>G	gnomAD
ACAN	P16112	p.Pro448Thr	rs532736974	missense variant	-	NC_000015.10:g.88845795C>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Gly451Ser	rs372274447	missense variant	-	NC_000015.10:g.88845804G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly451Ala	rs764588967	missense variant	-	NC_000015.10:g.88845805G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly451Asp	COSM4057702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845805G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gly451Arg	rs372274447	missense variant	-	NC_000015.10:g.88845804G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro452Leu	rs1488419679	missense variant	-	NC_000015.10:g.88845808C>T	gnomAD
ACAN	P16112	p.Ala453Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88845811C>T	NCI-TCGA
ACAN	P16112	p.Thr454Met	rs575245223	missense variant	-	NC_000015.10:g.88845814C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr454Pro	rs1218272397	missense variant	-	NC_000015.10:g.88845813A>C	TOPMed,gnomAD
ACAN	P16112	p.Ala455Thr	rs924968633	missense variant	-	NC_000015.10:g.88845816G>A	TOPMed
ACAN	P16112	p.Phe456Leu	rs181736584	missense variant	-	NC_000015.10:g.88845819T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Phe456Leu	RCV000761918	missense variant	-	NC_000015.10:g.88845819T>C	ClinVar
ACAN	P16112	p.Ser458Gly	rs780169895	missense variant	-	NC_000015.10:g.88845825A>G	ExAC,gnomAD
ACAN	P16112	p.Glu459Lys	rs1394799848	missense variant	-	NC_000015.10:g.88845828G>A	gnomAD
ACAN	P16112	p.Asp460Asn	rs1323126627	missense variant	-	NC_000015.10:g.88845831G>A	TOPMed,gnomAD
ACAN	P16112	p.Asp460Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88845832A>G	NCI-TCGA
ACAN	P16112	p.Leu461Phe	rs749341648	missense variant	-	NC_000015.10:g.88845834C>T	ExAC,gnomAD
ACAN	P16112	p.Val462Ile	rs200734577	missense variant	-	NC_000015.10:g.88845837G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val462Phe	rs200734577	missense variant	-	NC_000015.10:g.88845837G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val463Met	rs777892697	missense variant	-	NC_000015.10:g.88845840G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val463Leu	rs777892697	missense variant	-	NC_000015.10:g.88845840G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val465Leu	rs761237568	missense variant	-	NC_000015.10:g.88845846G>T	TOPMed,gnomAD
ACAN	P16112	p.Val465Met	rs761237568	missense variant	-	NC_000015.10:g.88845846G>A	TOPMed,gnomAD
ACAN	P16112	p.Ala467Ser	rs770829348	missense variant	-	NC_000015.10:g.88845852G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala467Thr	rs770829348	missense variant	-	NC_000015.10:g.88845852G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro469Ser	rs1354095381	missense variant	-	NC_000015.10:g.88845858C>T	gnomAD
ACAN	P16112	p.Gly470Val	rs749892328	missense variant	-	NC_000015.10:g.88845862G>T	ExAC,gnomAD
ACAN	P16112	p.Gly470Glu	rs749892328	missense variant	-	NC_000015.10:g.88845862G>A	ExAC,gnomAD
ACAN	P16112	p.Gly470Arg	rs1242006485	missense variant	-	NC_000015.10:g.88845861G>A	gnomAD
ACAN	P16112	p.Gln471Lys	rs759209767	missense variant	-	NC_000015.10:g.88845864C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.His473Asn	rs774993574	missense variant	-	NC_000015.10:g.88845870C>A	ExAC,gnomAD
ACAN	P16112	p.His473Tyr	rs774993574	missense variant	-	NC_000015.10:g.88845870C>T	ExAC,gnomAD
ACAN	P16112	p.Leu474Phe	rs1470231901	missense variant	-	NC_000015.10:g.88845875G>T	gnomAD
ACAN	P16112	p.Pro475Leu	rs1192253318	missense variant	-	NC_000015.10:g.88845877C>T	gnomAD
ACAN	P16112	p.Gly476Glu	rs1160808564	missense variant	-	NC_000015.10:g.88845880G>A	gnomAD
ACAN	P16112	p.Gly476Arg	rs1440750025	missense variant	-	NC_000015.10:g.88845879G>A	gnomAD
ACAN	P16112	p.Val478Phe	rs748987964	missense variant	-	NC_000015.10:g.88847245G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val478Ter	RCV000508978	frameshift	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88845878del	ClinVar
ACAN	P16112	p.Val479Ile	rs369608360	missense variant	-	NC_000015.10:g.88847248G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val479Ile	rs369608360	missense variant	-	NC_000015.10:g.88847248G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Phe480Leu	rs773918941	missense variant	-	NC_000015.10:g.88847253C>G	ExAC,gnomAD
ACAN	P16112	p.His481Arg	rs1232219601	missense variant	-	NC_000015.10:g.88847255A>G	gnomAD
ACAN	P16112	p.His481Tyr	rs1353163798	missense variant	-	NC_000015.10:g.88847254C>T	gnomAD
ACAN	P16112	p.Arg483His	rs200950723	missense variant	-	NC_000015.10:g.88847261G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg483His	RCV000593515	missense variant	-	NC_000015.10:g.88847261G>A	ClinVar
ACAN	P16112	p.Arg483Cys	rs780424423	missense variant	-	NC_000015.10:g.88847260C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro484Leu	rs1004496493	missense variant	-	NC_000015.10:g.88847264C>T	TOPMed,gnomAD
ACAN	P16112	p.Gly485Arg	rs1201362860	missense variant	-	NC_000015.10:g.88847266G>C	TOPMed,gnomAD
ACAN	P16112	p.Gly485Arg	rs1201362860	missense variant	-	NC_000015.10:g.88847266G>A	TOPMed,gnomAD
ACAN	P16112	p.Pro486Ser	rs1259949509	missense variant	-	NC_000015.10:g.88847269C>T	gnomAD
ACAN	P16112	p.Thr487Pro	rs1474348398	missense variant	-	NC_000015.10:g.88847272A>C	gnomAD
ACAN	P16112	p.Arg488Leu	rs202205582	missense variant	-	NC_000015.10:g.88847276G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg488Cys	rs1016252040	missense variant	-	NC_000015.10:g.88847275C>T	TOPMed
ACAN	P16112	p.Arg488His	rs202205582	missense variant	-	NC_000015.10:g.88847276G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr489Cys	rs1168184102	missense variant	-	NC_000015.10:g.88847279A>G	gnomAD
ACAN	P16112	p.Ser490Thr	rs1372399305	missense variant	-	NC_000015.10:g.88847281T>A	TOPMed,gnomAD
ACAN	P16112	p.Ser490Leu	rs117116488	missense variant	-	NC_000015.10:g.88847282C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser490Trp	rs117116488	missense variant	-	NC_000015.10:g.88847282C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser490Pro	rs1372399305	missense variant	-	NC_000015.10:g.88847281T>C	TOPMed,gnomAD
ACAN	P16112	p.Phe493Leu	rs1413724932	missense variant	-	NC_000015.10:g.88847290T>C	gnomAD
ACAN	P16112	p.Glu494Lys	rs1298299806	missense variant	-	NC_000015.10:g.88847293G>A	gnomAD
ACAN	P16112	p.Glu495Val	rs538870253	missense variant	-	NC_000015.10:g.88847297A>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu495Asp	COSM6143200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88847298G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Glu495Lys	rs755294223	missense variant	-	NC_000015.10:g.88847296G>A	ExAC,gnomAD
ACAN	P16112	p.Glu495Gly	rs538870253	missense variant	-	NC_000015.10:g.88847297A>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln497Leu	rs117881662	missense variant	-	NC_000015.10:g.88847303A>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln497Arg	rs117881662	missense variant	-	NC_000015.10:g.88847303A>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln498Arg	rs1307410110	missense variant	-	NC_000015.10:g.88847306A>G	TOPMed,gnomAD
ACAN	P16112	p.Ala499Asp	rs757190295	missense variant	-	NC_000015.10:g.88847309C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala499Val	rs757190295	missense variant	-	NC_000015.10:g.88847309C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala499Ser	rs1234512437	missense variant	-	NC_000015.10:g.88847308G>T	gnomAD
ACAN	P16112	p.Leu501Gln	rs1018758817	missense variant	-	NC_000015.10:g.88847315T>A	TOPMed
ACAN	P16112	p.Arg502Cys	rs149841431	missense variant	-	NC_000015.10:g.88847317C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg502Pro	rs144835580	missense variant	-	NC_000015.10:g.88847318G>C	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Arg502Leu	rs144835580	missense variant	-	NC_000015.10:g.88847318G>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Arg502His	rs144835580	missense variant	-	NC_000015.10:g.88847318G>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Arg502Ser	rs149841431	missense variant	-	NC_000015.10:g.88847317C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr503Ser	rs374406298	missense variant	-	NC_000015.10:g.88847320A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr503Arg	rs779937883	missense variant	-	NC_000015.10:g.88847321C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr503Lys	rs779937883	missense variant	-	NC_000015.10:g.88847321C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr503Met	rs779937883	missense variant	-	NC_000015.10:g.88847321C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly504Trp	rs924521785	missense variant	-	NC_000015.10:g.88847323G>T	TOPMed,gnomAD
ACAN	P16112	p.Ala505Ser	rs1175296986	missense variant	-	NC_000015.10:g.88847326G>T	gnomAD
ACAN	P16112	p.Ala505Glu	rs887656896	missense variant	-	NC_000015.10:g.88847327C>A	TOPMed,gnomAD
ACAN	P16112	p.Ala505Val	rs887656896	missense variant	-	NC_000015.10:g.88847327C>T	TOPMed,gnomAD
ACAN	P16112	p.Ala505Val	rs887656896	missense variant	-	NC_000015.10:g.88847327C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser509Trp	rs773794233	missense variant	-	NC_000015.10:g.88847339C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser509Leu	rs773794233	missense variant	-	NC_000015.10:g.88847339C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro510Leu	rs1428109216	missense variant	-	NC_000015.10:g.88847342C>T	TOPMed,gnomAD
ACAN	P16112	p.Glu511Lys	rs773619196	missense variant	-	NC_000015.10:g.88847344G>A	ExAC,gnomAD
ACAN	P16112	p.Gln512His	rs761297861	missense variant	-	NC_000015.10:g.88847349G>T	ExAC,gnomAD
ACAN	P16112	p.Ala516Thr	rs540361430	missense variant	-	NC_000015.10:g.88847359G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala516Thr	rs540361430	missense variant	-	NC_000015.10:g.88847359G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Ala516Val	rs564985995	missense variant	-	NC_000015.10:g.88847360C>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Tyr517Ser	rs759770403	missense variant	-	NC_000015.10:g.88847363A>C	ExAC,gnomAD
ACAN	P16112	p.Tyr517Cys	rs759770403	missense variant	-	NC_000015.10:g.88847363A>G	ExAC,gnomAD
ACAN	P16112	p.Glu518Lys	rs267604363	missense variant	-	NC_000015.10:g.88847365G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu518Gln	rs267604363	missense variant	-	NC_000015.10:g.88847365G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala519Thr	rs1488779040	missense variant	-	NC_000015.10:g.88847368G>A	gnomAD
ACAN	P16112	p.Ala519Gly	rs764283130	missense variant	-	NC_000015.10:g.88847369C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly520Asp	rs756140760	missense variant	-	NC_000015.10:g.88847372G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr521Cys	rs1179005751	missense variant	-	NC_000015.10:g.88847375A>G	gnomAD
ACAN	P16112	p.Gln523His	rs754558595	missense variant	-	NC_000015.10:g.88847382G>C	ExAC,gnomAD
ACAN	P16112	p.Gln523Glu	rs372777485	missense variant	-	NC_000015.10:g.88847380C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln523Leu	rs753649277	missense variant	-	NC_000015.10:g.88847381A>T	ExAC,gnomAD
ACAN	P16112	p.Gln523Pro	rs753649277	missense variant	-	NC_000015.10:g.88847381A>C	ExAC,gnomAD
ACAN	P16112	p.Cys524Phe	rs1349909950	missense variant	-	NC_000015.10:g.88847384G>T	gnomAD
ACAN	P16112	p.Cys524Ter	rs1462460798	stop gained	-	NC_000015.10:g.88847385T>A	gnomAD
ACAN	P16112	p.Asp525Glu	rs367724066	missense variant	-	NC_000015.10:g.88847388C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala526Thr	rs771465769	missense variant	-	NC_000015.10:g.88847389G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala526Asp	rs1440707959	missense variant	-	NC_000015.10:g.88847390C>A	TOPMed,gnomAD
ACAN	P16112	p.Ala526Pro	rs771465769	missense variant	-	NC_000015.10:g.88847389G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly527Ser	rs747469866	missense variant	-	NC_000015.10:g.88847392G>A	ExAC,gnomAD
ACAN	P16112	p.Gly527Cys	rs747469866	missense variant	-	NC_000015.10:g.88847392G>T	ExAC,gnomAD
ACAN	P16112	p.Gly527Asp	rs771478914	missense variant	-	NC_000015.10:g.88847393G>A	ExAC,gnomAD
ACAN	P16112	p.Arg530Trp	rs777066916	missense variant	-	NC_000015.10:g.88847401C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg530Gln	rs544077619	missense variant	-	NC_000015.10:g.88847402G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg530Trp	rs777066916	missense variant	-	NC_000015.10:g.88847401C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Asp531Asn	rs1215608729	missense variant	-	NC_000015.10:g.88847404G>A	gnomAD
ACAN	P16112	p.Asp531Gly	rs965946120	missense variant	-	NC_000015.10:g.88847405A>G	gnomAD
ACAN	P16112	p.Gln532His	rs775831150	missense variant	-	NC_000015.10:g.88847409G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val534Ile	rs764074781	missense variant	-	NC_000015.10:g.88847413G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro537Ser	rs768937241	missense variant	-	NC_000015.10:g.88847915C>T	ExAC,gnomAD
ACAN	P16112	p.Ser540Asn	rs1346158582	missense variant	-	NC_000015.10:g.88847925G>A	TOPMed
ACAN	P16112	p.Arg542Gln	rs151237327	missense variant	-	NC_000015.10:g.88847931G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg542Gly	rs143697605	missense variant	-	NC_000015.10:g.88847930C>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg542Trp	rs143697605	missense variant	-	NC_000015.10:g.88847930C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg542Trp	rs143697605	missense variant	-	NC_000015.10:g.88847930C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Pro544Leu	rs765015015	missense variant	-	NC_000015.10:g.88847937C>T	ExAC,gnomAD
ACAN	P16112	p.Pro544Ser	rs759515019	missense variant	-	NC_000015.10:g.88847936C>T	ExAC,gnomAD
ACAN	P16112	p.Val546Met	rs62640041	missense variant	-	NC_000015.10:g.88847942G>A	TOPMed,gnomAD
ACAN	P16112	p.Val546Leu	rs62640041	missense variant	-	NC_000015.10:g.88847942G>T	TOPMed,gnomAD
ACAN	P16112	p.Val546Met	rs62640041	missense variant	-	NC_000015.10:g.88847942G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Asp548Asn	COSM3887710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88847948G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Lys549Thr	COSM4057704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88847952A>C	NCI-TCGA Cosmic
ACAN	P16112	p.Pro553Arg	rs1349626660	missense variant	-	NC_000015.10:g.88847964C>G	TOPMed,gnomAD
ACAN	P16112	p.Pro553Leu	rs1349626660	missense variant	-	NC_000015.10:g.88847964C>T	TOPMed,gnomAD
ACAN	P16112	p.Val555Ile	rs763836625	missense variant	-	NC_000015.10:g.88847969G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val555GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88847965_88847966insG	NCI-TCGA
ACAN	P16112	p.Arg556Trp	rs750979692	missense variant	-	NC_000015.10:g.88847972A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr558Cys	rs532546900	missense variant	-	NC_000015.10:g.88847979A>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr558His	rs756802171	missense variant	-	NC_000015.10:g.88847978T>C	ExAC
ACAN	P16112	p.Tyr558Phe	COSM3505097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88847979A>T	NCI-TCGA Cosmic
ACAN	P16112	p.Gly559Cys	rs373952066	missense variant	-	NC_000015.10:g.88847981G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val560Met	rs770141611	missense variant	-	NC_000015.10:g.88847984G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val560Met	rs770141611	missense variant	-	NC_000015.10:g.88847984G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Arg561Cys	rs780224333	missense variant	-	NC_000015.10:g.88847987C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg561Leu	rs376881991	missense variant	-	NC_000015.10:g.88847988G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg561His	rs376881991	missense variant	-	NC_000015.10:g.88847988G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg561Cys	rs780224333	missense variant	-	NC_000015.10:g.88847987C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Pro562Ala	rs748369134	missense variant	-	NC_000015.10:g.88847990C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser563Pro	rs551134605	missense variant	-	NC_000015.10:g.88847993T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr564Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88847996A>G	NCI-TCGA
ACAN	P16112	p.Glu565Gly	rs569388356	missense variant	-	NC_000015.10:g.88848000A>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu565Lys	rs1382905147	missense variant	-	NC_000015.10:g.88847999G>A	gnomAD
ACAN	P16112	p.Thr566Ile	rs759458195	missense variant	-	NC_000015.10:g.88848003C>T	ExAC,gnomAD
ACAN	P16112	p.Asp568Asn	rs775104367	missense variant	-	NC_000015.10:g.88848008G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr570His	rs762824937	missense variant	-	NC_000015.10:g.88848014T>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr570Cys	COSM3505099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88848015A>G	NCI-TCGA Cosmic
ACAN	P16112	p.Val573Gly	rs763839982	missense variant	-	NC_000015.10:g.88848024T>G	ExAC,gnomAD
ACAN	P16112	p.Leu576Phe	rs757037237	missense variant	-	NC_000015.10:g.88848032C>T	ExAC,gnomAD
ACAN	P16112	p.Glu577Gly	rs767120823	missense variant	-	NC_000015.10:g.88848036A>G	ExAC,TOPMed
ACAN	P16112	p.Glu577Ala	rs767120823	missense variant	-	NC_000015.10:g.88848036A>C	ExAC,TOPMed
ACAN	P16112	p.Glu577Ter	rs1281450365	stop gained	-	NC_000015.10:g.88848035G>T	gnomAD
ACAN	P16112	p.Glu577Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88848035G>C	NCI-TCGA
ACAN	P16112	p.Glu579Lys	rs758553258	missense variant	-	NC_000015.10:g.88849440G>A	ExAC,gnomAD
ACAN	P16112	p.Val580Leu	rs1337604481	missense variant	-	NC_000015.10:g.88849443G>T	gnomAD
ACAN	P16112	p.Phe582Ter	RCV000508979	frameshift	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88849450del	ClinVar
ACAN	P16112	p.Ala583Asp	rs377338540	missense variant	-	NC_000015.10:g.88849453C>A	ESP,ExAC,gnomAD
ACAN	P16112	p.Ala583Thr	rs747278710	missense variant	-	NC_000015.10:g.88849452G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg585His	rs375567241	missense variant	-	NC_000015.10:g.88849459G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg585Cys	rs144501729	missense variant	-	NC_000015.10:g.88849458C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Arg585Leu	COSM1375261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849459G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Arg585Ser	rs144501729	missense variant	-	NC_000015.10:g.88849458C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg585Cys	rs144501729	missense variant	-	NC_000015.10:g.88849458C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu586Phe	rs761732451	missense variant	-	NC_000015.10:g.88849461C>T	ExAC,gnomAD
ACAN	P16112	p.Leu586Phe	rs761732451	missense variant	-	NC_000015.10:g.88849461C>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Leu586Arg	rs546076896	missense variant	-	NC_000015.10:g.88849462T>G	1000Genomes
ACAN	P16112	p.Glu587Lys	rs771802121	missense variant	-	NC_000015.10:g.88849464G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu587Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88849464G>C	NCI-TCGA
ACAN	P16112	p.Gln588Arg	rs772978689	missense variant	-	NC_000015.10:g.88849468A>G	ExAC,gnomAD
ACAN	P16112	p.Gln588Pro	rs772978689	missense variant	-	NC_000015.10:g.88849468A>C	ExAC,gnomAD
ACAN	P16112	p.Ala594Thr	rs1164048792	missense variant	-	NC_000015.10:g.88849485G>A	gnomAD
ACAN	P16112	p.Leu595Val	rs765912431	missense variant	-	NC_000015.10:g.88849488C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu595Pro	rs1296237665	missense variant	-	NC_000015.10:g.88849489T>C	TOPMed,gnomAD
ACAN	P16112	p.Leu595Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88849489T>G	NCI-TCGA
ACAN	P16112	p.Glu596Lys	rs753349925	missense variant	-	NC_000015.10:g.88849491G>A	ExAC,gnomAD
ACAN	P16112	p.Glu596Asp	rs1414960893	missense variant	-	NC_000015.10:g.88849493G>C	gnomAD
ACAN	P16112	p.Glu596Lys	rs753349925	missense variant	-	NC_000015.10:g.88849491G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Phe597Tyr	rs1314202727	missense variant	-	NC_000015.10:g.88849495T>A	gnomAD
ACAN	P16112	p.Phe597Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88849494T>A	NCI-TCGA
ACAN	P16112	p.Glu599Asp	rs1407908678	missense variant	-	NC_000015.10:g.88849502A>C	TOPMed,gnomAD
ACAN	P16112	p.Glu599Lys	rs760034910	missense variant	-	NC_000015.10:g.88849500G>A	ExAC,gnomAD
ACAN	P16112	p.Asn602Lys	rs765671060	missense variant	-	NC_000015.10:g.88849511T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala603Thr	rs1312703452	missense variant	-	NC_000015.10:g.88849512G>A	TOPMed,gnomAD
ACAN	P16112	p.Ala603Val	rs1463722385	missense variant	-	NC_000015.10:g.88849513C>T	TOPMed
ACAN	P16112	p.Ala603Ser	rs1312703452	missense variant	-	NC_000015.10:g.88849512G>T	TOPMed,gnomAD
ACAN	P16112	p.Thr604Met	rs758736365	missense variant	-	NC_000015.10:g.88849516C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr604Arg	rs758736365	missense variant	-	NC_000015.10:g.88849516C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr604Arg	rs758736365	missense variant	-	NC_000015.10:g.88849516C>G	NCI-TCGA
ACAN	P16112	p.Ala606Pro	rs1301236820	missense variant	-	NC_000015.10:g.88849521G>C	gnomAD
ACAN	P16112	p.Ala606Gly	rs757476544	missense variant	-	NC_000015.10:g.88849522C>G	ExAC,gnomAD
ACAN	P16112	p.Thr607Ser	rs949781604	missense variant	-	NC_000015.10:g.88849524A>T	TOPMed
ACAN	P16112	p.Thr608Met	rs1259839311	missense variant	-	NC_000015.10:g.88849528C>T	TOPMed,gnomAD
ACAN	P16112	p.Thr608Lys	COSM6078109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849528C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gly609Asp	rs868746592	missense variant	-	NC_000015.10:g.88849531G>A	gnomAD
ACAN	P16112	p.Leu611Ile	rs1430169560	missense variant	-	NC_000015.10:g.88849536C>A	gnomAD
ACAN	P16112	p.Ala613Thr	rs377219636	missense variant	-	NC_000015.10:g.88849542G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala614Ser	rs771963700	missense variant	-	NC_000015.10:g.88849545G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala614Thr	rs771963700	missense variant	-	NC_000015.10:g.88849545G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser616Asn	rs770505276	missense variant	-	NC_000015.10:g.88849552G>A	ExAC,gnomAD
ACAN	P16112	p.Arg617His	rs34616796	missense variant	-	NC_000015.10:g.88849555G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg617His	RCV000402797	missense variant	-	NC_000015.10:g.88849555G>A	ClinVar
ACAN	P16112	p.Arg617Cys	rs776144534	missense variant	-	NC_000015.10:g.88849554C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly618Asp	rs1293914813	missense variant	-	NC_000015.10:g.88849558G>A	gnomAD
ACAN	P16112	p.Asp620Asn	rs1310094175	missense variant	-	NC_000015.10:g.88849563G>A	TOPMed
ACAN	P16112	p.Ala624Thr	rs1209512221	missense variant	-	NC_000015.10:g.88849575G>A	TOPMed,gnomAD
ACAN	P16112	p.Gly625Cys	rs148018909	missense variant	-	NC_000015.10:g.88849578G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly625Ser	rs148018909	missense variant	-	NC_000015.10:g.88849578G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly625Asp	rs929801867	missense variant	-	NC_000015.10:g.88849579G>A	TOPMed,gnomAD
ACAN	P16112	p.Gly625Ser	rs148018909	missense variant	-	NC_000015.10:g.88849578G>A	NCI-TCGA
ACAN	P16112	p.Gly625Val	rs929801867	missense variant	-	NC_000015.10:g.88849579G>T	TOPMed,gnomAD
ACAN	P16112	p.Ala628Thr	rs200412974	missense variant	-	NC_000015.10:g.88849587G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala628Asp	rs891232104	missense variant	-	NC_000015.10:g.88849588C>A	TOPMed
ACAN	P16112	p.Asp629Asn	rs369864209	missense variant	-	NC_000015.10:g.88849590G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Asp629Asn	rs369864209	missense variant	-	NC_000015.10:g.88849590G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly630Ser	rs780323898	missense variant	-	NC_000015.10:g.88849593G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg633Pro	rs35965913	missense variant	-	NC_000015.10:g.88849603G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg633His	rs35965913	missense variant	-	NC_000015.10:g.88849603G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg633Cys	rs758471993	missense variant	-	NC_000015.10:g.88849602C>T	ExAC,gnomAD
ACAN	P16112	p.Pro635Ser	COSM3887712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849608C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ile636Val	rs1270870334	missense variant	-	NC_000015.10:g.88849611A>G	TOPMed
ACAN	P16112	p.Ile636Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88849613C>G	NCI-TCGA
ACAN	P16112	p.Val637Ile	rs770581471	missense variant	-	NC_000015.10:g.88849614G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val637Ile	rs770581471	missense variant	-	NC_000015.10:g.88849614G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Thr638Asn	rs776122536	missense variant	-	NC_000015.10:g.88849618C>A	ExAC,gnomAD
ACAN	P16112	p.Thr638Ile	rs776122536	missense variant	-	NC_000015.10:g.88849618C>T	ExAC,gnomAD
ACAN	P16112	p.Pro639Thr	rs769287861	missense variant	-	NC_000015.10:g.88849620C>A	NCI-TCGA
ACAN	P16112	p.Pro639Thr	rs769287861	missense variant	-	NC_000015.10:g.88849620C>A	ExAC,gnomAD
ACAN	P16112	p.Pro639Ser	rs769287861	missense variant	-	NC_000015.10:g.88849620C>T	ExAC,gnomAD
ACAN	P16112	p.Arg640Ser	rs763391616	missense variant	-	NC_000015.10:g.88849625G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg640Lys	rs1213712769	missense variant	-	NC_000015.10:g.88849624G>A	gnomAD
ACAN	P16112	p.Ala642Val	rs1185058684	missense variant	-	NC_000015.10:g.88849630C>T	gnomAD
ACAN	P16112	p.Cys643Arg	rs764586930	missense variant	-	NC_000015.10:g.88849632T>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly644Cys	rs762106035	missense variant	-	NC_000015.10:g.88849635G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly644Asp	rs1477509378	missense variant	-	NC_000015.10:g.88849636G>A	gnomAD
ACAN	P16112	p.Gly644Arg	rs762106035	missense variant	-	NC_000015.10:g.88849635G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly644Ser	rs762106035	missense variant	-	NC_000015.10:g.88849635G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly645Val	rs750579987	missense variant	-	NC_000015.10:g.88849639G>T	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Gly645Val	rs750579987	missense variant	-	NC_000015.10:g.88849639G>T	ExAC,gnomAD
ACAN	P16112	p.Val650Met	rs201414869	missense variant	-	NC_000015.10:g.88849653G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg651Gly	rs753982782	missense variant	-	NC_000015.10:g.88849656A>G	ExAC
ACAN	P16112	p.Thr652Met	rs373373120	missense variant	-	NC_000015.10:g.88849660C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val653Ile	rs1328377356	missense variant	-	NC_000015.10:g.88849662G>A	gnomAD
ACAN	P16112	p.Val653Ala	rs1296752392	missense variant	-	NC_000015.10:g.88849663T>C	TOPMed
ACAN	P16112	p.Tyr654His	rs1399881778	missense variant	-	NC_000015.10:g.88849665T>C	TOPMed
ACAN	P16112	p.Leu655Phe	rs746773847	missense variant	-	NC_000015.10:g.88849668C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr656Cys	rs983625315	missense variant	-	NC_000015.10:g.88849672A>G	gnomAD
ACAN	P16112	p.Pro657Ala	rs1222143874	missense variant	-	NC_000015.10:g.88849674C>G	gnomAD
ACAN	P16112	p.Pro657Ser	COSM4057710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849674C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Pro657Leu	rs1454877447	missense variant	-	NC_000015.10:g.88849675C>T	TOPMed
ACAN	P16112	p.Asn658Ser	rs370283261	missense variant	-	NC_000015.10:g.88849678A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln659Arg	rs374239823	missense variant	-	NC_000015.10:g.88849681A>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln659Glu	rs181923062	missense variant	-	NC_000015.10:g.88849680C>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr660Met	rs141628105	missense variant	-	NC_000015.10:g.88849684C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr660Ala	rs1450868991	missense variant	-	NC_000015.10:g.88849683A>G	gnomAD
ACAN	P16112	p.Gly661Asp	rs774699509	missense variant	-	NC_000015.10:g.88849687G>A	ExAC,gnomAD
ACAN	P16112	p.Leu662Val	rs772320528	missense variant	-	NC_000015.10:g.88849689C>G	ExAC,gnomAD
ACAN	P16112	p.Leu662Phe	rs772320528	missense variant	-	NC_000015.10:g.88849689C>T	ExAC,gnomAD
ACAN	P16112	p.Leu662Arg	rs773685275	missense variant	-	NC_000015.10:g.88849690T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro663Gln	COSM4429394	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849693C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Asp664Val	rs1482313715	missense variant	-	NC_000015.10:g.88849696A>T	TOPMed
ACAN	P16112	p.Asp664Glu	rs971199372	missense variant	-	NC_000015.10:g.88849697C>G	TOPMed
ACAN	P16112	p.Asp664Tyr	COSM6078107	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849695G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser667Ala	rs760924730	missense variant	-	NC_000015.10:g.88849704T>G	ExAC,gnomAD
ACAN	P16112	p.Arg668Gly	rs766715171	missense variant	-	NC_000015.10:g.88849707C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg668Gln	rs77572130	missense variant	-	NC_000015.10:g.88849708G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg668Trp	rs766715171	missense variant	-	NC_000015.10:g.88849707C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg668Leu	rs77572130	missense variant	-	NC_000015.10:g.88849708G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.His669Gln	rs765394408	missense variant	-	NC_000015.10:g.88849712C>A	ExAC,gnomAD
ACAN	P16112	p.His670Asn	rs1408176320	missense variant	-	NC_000015.10:g.88849713C>A	TOPMed,gnomAD
ACAN	P16112	p.Ala671Val	rs751443753	missense variant	-	NC_000015.10:g.88849717C>T	ExAC,gnomAD
ACAN	P16112	p.Phe672Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88849721C>A	NCI-TCGA
ACAN	P16112	p.Arg675Gln	rs35102652	missense variant	-	NC_000015.10:g.88849729G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg675Leu	rs35102652	missense variant	-	NC_000015.10:g.88849729G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly676Asp	rs982136432	missense variant	-	NC_000015.10:g.88851794G>A	gnomAD
ACAN	P16112	p.Ala679Val	rs367992413	missense variant	-	NC_000015.10:g.88851803C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala679Thr	rs1263282660	missense variant	-	NC_000015.10:g.88851802G>A	gnomAD
ACAN	P16112	p.Val680Phe	rs377059310	missense variant	-	NC_000015.10:g.88851805G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro681Ser	rs1438546147	missense variant	-	NC_000015.10:g.88851808C>T	TOPMed,gnomAD
ACAN	P16112	p.Gly684Ala	rs1472286074	missense variant	-	NC_000015.10:g.88851818G>C	TOPMed,gnomAD
ACAN	P16112	p.Gly684Val	rs1472286074	missense variant	-	NC_000015.10:g.88851818G>T	TOPMed,gnomAD
ACAN	P16112	p.Gly684Glu	rs1472286074	missense variant	-	NC_000015.10:g.88851818G>A	TOPMed,gnomAD
ACAN	P16112	p.Glu686Lys	rs1165623096	missense variant	-	NC_000015.10:g.88851823G>A	gnomAD
ACAN	P16112	p.Glu687Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88851826G>C	NCI-TCGA
ACAN	P16112	p.Gly688Ser	rs1227426027	missense variant	-	NC_000015.10:g.88851829G>A	TOPMed
ACAN	P16112	p.Gly689Val	rs764128416	missense variant	-	NC_000015.10:g.88851833G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly689Asp	rs764128416	missense variant	-	NC_000015.10:g.88851833G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly689Ser	rs1340826290	missense variant	-	NC_000015.10:g.88851832G>A	TOPMed
ACAN	P16112	p.Pro691Thr	rs1162362074	missense variant	-	NC_000015.10:g.88851838C>A	gnomAD
ACAN	P16112	p.Thr692Pro	rs773102587	missense variant	-	NC_000015.10:g.88851841A>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser693Leu	rs1361963398	missense variant	-	NC_000015.10:g.88851845C>T	gnomAD
ACAN	P16112	p.Pro694Ser	rs1305675214	missense variant	-	NC_000015.10:g.88851847C>T	gnomAD
ACAN	P16112	p.Pro694Leu	rs766150369	missense variant	-	NC_000015.10:g.88851848C>T	ExAC,gnomAD
ACAN	P16112	p.Gly696Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88851853G>T	NCI-TCGA
ACAN	P16112	p.Val697Met	rs1294504768	missense variant	-	NC_000015.10:g.88851856G>A	gnomAD
ACAN	P16112	p.Val702Met	rs370096577	missense variant	-	NC_000015.10:g.88851871G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln704His	rs1265173614	missense variant	-	NC_000015.10:g.88851879A>T	gnomAD
ACAN	P16112	p.Val705Met	rs1296375306	missense variant	-	NC_000015.10:g.88851880G>A	TOPMed
ACAN	P16112	p.Gly708Ser	rs35120858	missense variant	-	NC_000015.10:g.88851889G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly708Arg	rs35120858	missense variant	-	NC_000015.10:g.88851889G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val709Met	rs1482802691	missense variant	-	NC_000015.10:g.88851892G>A	gnomAD
ACAN	P16112	p.Ala710Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88851895G>A	NCI-TCGA
ACAN	P16112	p.Ala711Thr	rs1188739281	missense variant	-	NC_000015.10:g.88851898G>A	gnomAD
ACAN	P16112	p.Val714Ile	rs747501102	missense variant	-	NC_000015.10:g.88851907G>A	ExAC,gnomAD
ACAN	P16112	p.Glu715Asp	rs757848551	missense variant	-	NC_000015.10:g.88851912A>T	ExAC,gnomAD
ACAN	P16112	p.Glu717Gly	rs1373392482	missense variant	-	NC_000015.10:g.88851917A>G	gnomAD
ACAN	P16112	p.Thr718Ala	rs1463304827	missense variant	-	NC_000015.10:g.88851919A>G	gnomAD
ACAN	P16112	p.Thr718Lys	rs781633190	missense variant	-	NC_000015.10:g.88851920C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr719Ala	rs1434872568	missense variant	-	NC_000015.10:g.88851922A>G	gnomAD
ACAN	P16112	p.Ala720Ser	rs1314113660	missense variant	-	NC_000015.10:g.88851925G>T	TOPMed,gnomAD
ACAN	P16112	p.Ala720Val	rs769858164	missense variant	-	NC_000015.10:g.88851926C>T	ExAC,gnomAD
ACAN	P16112	p.Ala720Thr	rs1314113660	missense variant	-	NC_000015.10:g.88851925G>A	TOPMed,gnomAD
ACAN	P16112	p.Val721Ile	rs775758199	missense variant	-	NC_000015.10:g.88851928G>A	ExAC,gnomAD
ACAN	P16112	p.Pro722Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88851932C>T	NCI-TCGA
ACAN	P16112	p.Pro722Thr	rs267604364	missense variant	-	NC_000015.10:g.88851931C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro722Ala	rs267604364	missense variant	-	NC_000015.10:g.88851931C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro722His	rs768777515	missense variant	-	NC_000015.10:g.88851932C>A	ExAC,gnomAD
ACAN	P16112	p.Pro722Ser	rs267604364	missense variant	-	NC_000015.10:g.88851931C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser723Pro	rs1483689555	missense variant	-	NC_000015.10:g.88851934T>C	TOPMed
ACAN	P16112	p.Glu725Lys	rs1048763393	missense variant	-	NC_000015.10:g.88851940G>A	gnomAD
ACAN	P16112	p.Ile729Thr	rs1019308175	missense variant	-	NC_000015.10:g.88851953T>C	TOPMed,gnomAD
ACAN	P16112	p.Ile729Val	rs1007385280	missense variant	-	NC_000015.10:g.88851952A>G	TOPMed
ACAN	P16112	p.Ile729Ter	RCV000585440	nonsense	-	NC_000015.10:g.88851955del	ClinVar
ACAN	P16112	p.Glu731Asp	rs766310483	missense variant	-	NC_000015.10:g.88851960G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Phe732Leu	rs372515989	missense variant	-	NC_000015.10:g.88851963C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr733Ile	rs1199841846	missense variant	-	NC_000015.10:g.88851965C>T	gnomAD
ACAN	P16112	p.Thr733Pro	rs377098407	missense variant	-	NC_000015.10:g.88851964A>C	TOPMed
ACAN	P16112	p.Thr734Asn	rs1048903167	missense variant	-	NC_000015.10:g.88851968C>A	TOPMed
ACAN	P16112	p.Glu735Lys	rs202060628	missense variant	-	NC_000015.10:g.88851970G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu737Asp	rs796312782	missense variant	-	NC_000015.10:g.88851978A>C	gnomAD
ACAN	P16112	p.Glu737Gly	rs1454405139	missense variant	-	NC_000015.10:g.88851977A>G	gnomAD
ACAN	P16112	p.Asn738Ser	rs752367506	missense variant	-	NC_000015.10:g.88851980A>G	ExAC,gnomAD
ACAN	P16112	p.Asn738Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88851979A>G	NCI-TCGA
ACAN	P16112	p.Thr740Ser	rs571888451	missense variant	-	NC_000015.10:g.88851985A>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Trp742Gly	rs763636524	missense variant	-	NC_000015.10:g.88851991T>G	ExAC,gnomAD
ACAN	P16112	p.Glu743Asp	rs757797101	missense variant	-	NC_000015.10:g.88851996A>C	ExAC,gnomAD
ACAN	P16112	p.Glu743Gln	rs751115587	missense variant	-	NC_000015.10:g.88851994G>C	ExAC,gnomAD
ACAN	P16112	p.Pro744Ala	rs990274531	missense variant	-	NC_000015.10:g.88851997C>G	TOPMed
ACAN	P16112	p.Ala745Pro	rs1362388507	missense variant	-	NC_000015.10:g.88852000G>C	TOPMed
ACAN	P16112	p.Thr747Asn	rs1004956881	missense variant	-	NC_000015.10:g.88852007C>A	TOPMed
ACAN	P16112	p.Thr747Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88852006A>G	NCI-TCGA
ACAN	P16112	p.Pro748Leu	rs781769779	missense variant	-	NC_000015.10:g.88852010C>T	ExAC,gnomAD
ACAN	P16112	p.Pro748Ser	rs1406163211	missense variant	-	NC_000015.10:g.88852009C>T	gnomAD
ACAN	P16112	p.Val749Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88852012G>T	NCI-TCGA
ACAN	P16112	p.Val749Met	rs1235249785	missense variant	-	NC_000015.10:g.88852012G>A	TOPMed,gnomAD
ACAN	P16112	p.Thr751Ile	rs373766961	missense variant	-	NC_000015.10:g.88852019C>T	ESP,ExAC,gnomAD
ACAN	P16112	p.Pro753Thr	rs376234405	missense variant	-	NC_000015.10:g.88852024C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro753Leu	rs749512612	missense variant	-	NC_000015.10:g.88852025C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu754Pro	rs577419060	missense variant	-	NC_000015.10:g.88852028T>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu754Pro	RCV000594506	missense variant	-	NC_000015.10:g.88852028T>C	ClinVar
ACAN	P16112	p.Pro755Thr	rs1227494952	missense variant	-	NC_000015.10:g.88852030C>A	TOPMed
ACAN	P16112	p.Gly756Trp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88852033G>T	NCI-TCGA
ACAN	P16112	p.Ile757Asn	rs1487920540	missense variant	-	NC_000015.10:g.88854855T>A	gnomAD
ACAN	P16112	p.Leu758Ile	rs1177296194	missense variant	-	NC_000015.10:g.88854857C>A	gnomAD
ACAN	P16112	p.Thr760Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88854864C>T	NCI-TCGA
ACAN	P16112	p.Thr760Ser	rs1370793074	missense variant	-	NC_000015.10:g.88854864C>G	TOPMed
ACAN	P16112	p.Thr764Ser	rs1383469318	missense variant	-	NC_000015.10:g.88854876C>G	TOPMed
ACAN	P16112	p.Thr764Ala	rs754158581	missense variant	-	NC_000015.10:g.88854875A>G	ExAC,gnomAD
ACAN	P16112	p.Ala766Thr	rs150988100	missense variant	-	NC_000015.10:g.88854881G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala766Val	rs1348376177	missense variant	-	NC_000015.10:g.88854882C>T	gnomAD
ACAN	P16112	p.Ala767Thr	rs1435969984	missense variant	-	NC_000015.10:g.88854884G>A	gnomAD
ACAN	P16112	p.Ala767Val	rs1308751676	missense variant	-	NC_000015.10:g.88854885C>T	gnomAD
ACAN	P16112	p.Glu769Gly	rs748421719	missense variant	-	NC_000015.10:g.88854891A>G	ExAC,gnomAD
ACAN	P16112	p.Glu769Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88854892G>C	NCI-TCGA
ACAN	P16112	p.Glu769Lys	rs1364015558	missense variant	-	NC_000015.10:g.88854890G>A	TOPMed
ACAN	P16112	p.Glu770Lys	COSM702211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88854893G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Thr772Ser	rs1452306708	missense variant	-	NC_000015.10:g.88854899A>T	TOPMed
ACAN	P16112	p.Thr772Ile	rs777785667	missense variant	-	NC_000015.10:g.88854900C>T	ExAC,gnomAD
ACAN	P16112	p.Gly774Ala	rs745756144	missense variant	-	NC_000015.10:g.88854906G>C	ExAC,gnomAD
ACAN	P16112	p.Pro775Arg	rs1194050400	missense variant	-	NC_000015.10:g.88854909C>G	TOPMed
ACAN	P16112	p.Ala777Thr	rs1320775559	missense variant	-	NC_000015.10:g.88854914G>A	gnomAD
ACAN	P16112	p.Thr778Asn	rs769618934	missense variant	-	NC_000015.10:g.88854918C>A	ExAC,gnomAD
ACAN	P16112	p.Glu779Ala	rs964463877	missense variant	-	NC_000015.10:g.88854921A>C	TOPMed
ACAN	P16112	p.Val780Leu	rs775312655	missense variant	-	NC_000015.10:g.88854923G>T	ExAC,gnomAD
ACAN	P16112	p.Val780Met	rs775312655	missense variant	-	NC_000015.10:g.88854923G>A	ExAC,gnomAD
ACAN	P16112	p.Pro781Ser	rs1180822630	missense variant	-	NC_000015.10:g.88854926C>T	gnomAD
ACAN	P16112	p.Ser782Pro	rs1344279000	missense variant	-	NC_000015.10:g.88854929T>C	TOPMed,gnomAD
ACAN	P16112	p.Ser782Phe	rs1251737076	missense variant	-	NC_000015.10:g.88854930C>T	gnomAD
ACAN	P16112	p.Ala783AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88854932_88854941GCCTCAGAGG>-	NCI-TCGA
ACAN	P16112	p.Ser784Leu	rs762675815	missense variant	-	NC_000015.10:g.88854936C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu785Asp	rs1232426218	missense variant	-	NC_000015.10:g.88854940G>C	TOPMed
ACAN	P16112	p.Glu785Asp	COSM4057712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88854940G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Glu786Lys	rs758720393	missense variant	-	NC_000015.10:g.88854941G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser788Phe	rs867650450	missense variant	-	NC_000015.10:g.88854948C>T	-
ACAN	P16112	p.Pro789Leu	rs1326641800	missense variant	-	NC_000015.10:g.88854951C>T	gnomAD
ACAN	P16112	p.Glu791Asp	rs1318322830	missense variant	-	NC_000015.10:g.88854958G>T	TOPMed
ACAN	P16112	p.Glu791Lys	rs543052440	missense variant	-	NC_000015.10:g.88854956G>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Val792Met	rs1226325063	missense variant	-	NC_000015.10:g.88854959G>A	gnomAD
ACAN	P16112	p.Pro795His	rs1432426373	missense variant	-	NC_000015.10:g.88854969C>A	TOPMed
ACAN	P16112	p.Pro795Ala	rs1307432560	missense variant	-	NC_000015.10:g.88854968C>G	gnomAD
ACAN	P16112	p.Glu797Gly	rs78770909	missense variant	-	NC_000015.10:g.88854975A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro799Thr	rs1282326768	missense variant	-	NC_000015.10:g.88854980C>A	gnomAD
ACAN	P16112	p.Pro799Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88854980C>T	NCI-TCGA
ACAN	P16112	p.Pro799Leu	rs1378235264	missense variant	-	NC_000015.10:g.88854981C>T	gnomAD
ACAN	P16112	p.Ser800Tyr	rs761177707	missense variant	-	NC_000015.10:g.88854984C>A	ExAC,gnomAD
ACAN	P16112	p.Ser800Phe	COSM3988191	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88854984C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Pro801Arg	rs766827687	missense variant	-	NC_000015.10:g.88854987C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro801Leu	rs766827687	missense variant	-	NC_000015.10:g.88854987C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu803Lys	rs1339554000	missense variant	-	NC_000015.10:g.88854992G>A	gnomAD
ACAN	P16112	p.Glu804Val	rs1371249564	missense variant	-	NC_000015.10:g.88854996A>T	TOPMed
ACAN	P16112	p.Pro805Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88854998C>A	NCI-TCGA
ACAN	P16112	p.Pro807Arg	rs866839613	missense variant	-	NC_000015.10:g.88855005C>G	TOPMed,gnomAD
ACAN	P16112	p.Pro807Leu	rs866839613	missense variant	-	NC_000015.10:g.88855005C>T	TOPMed,gnomAD
ACAN	P16112	p.Val809Met	rs1443533811	missense variant	-	NC_000015.10:g.88855010G>A	TOPMed,gnomAD
ACAN	P16112	p.Val809Leu	rs1443533811	missense variant	-	NC_000015.10:g.88855010G>C	TOPMed,gnomAD
ACAN	P16112	p.Arg810Ser	rs1281313946	missense variant	-	NC_000015.10:g.88855015G>T	TOPMed
ACAN	P16112	p.Pro811Ser	COSM1375275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855016C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Pro813Thr	rs1236212249	missense variant	-	NC_000015.10:g.88855022C>A	gnomAD
ACAN	P16112	p.Pro813Ser	COSM3505113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855022C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser814GlnPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88855021C>-	NCI-TCGA
ACAN	P16112	p.Val815Met	rs755315928	missense variant	-	NC_000015.10:g.88855028G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu817Pro	rs200626682	missense variant	-	NC_000015.10:g.88855035T>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Phe818Leu	rs1168070667	missense variant	-	NC_000015.10:g.88855037T>C	gnomAD
ACAN	P16112	p.Pro819Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855041C>T	NCI-TCGA
ACAN	P16112	p.Ser820Leu	rs1188341342	missense variant	-	NC_000015.10:g.88855044C>T	gnomAD
ACAN	P16112	p.Glu821Gln	rs1416220883	missense variant	-	NC_000015.10:g.88855046G>C	gnomAD
ACAN	P16112	p.Glu822Val	rs777838943	missense variant	-	NC_000015.10:g.88855050A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu822Gly	rs777838943	missense variant	-	NC_000015.10:g.88855050A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro823Thr	COSM702209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855052C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Pro823Ala	rs1435551486	missense variant	-	NC_000015.10:g.88855052C>G	gnomAD
ACAN	P16112	p.Phe824Leu	rs913164178	missense variant	-	NC_000015.10:g.88855057C>G	TOPMed,gnomAD
ACAN	P16112	p.Phe824Leu	rs1322235271	missense variant	-	NC_000015.10:g.88855055T>C	gnomAD
ACAN	P16112	p.Pro825Leu	rs1342958816	missense variant	-	NC_000015.10:g.88855059C>T	TOPMed
ACAN	P16112	p.Pro825Ser	rs747087432	missense variant	-	NC_000015.10:g.88855058C>T	ExAC,gnomAD
ACAN	P16112	p.Pro825Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855058C>A	NCI-TCGA
ACAN	P16112	p.Ser826Ala	rs1275046894	missense variant	-	NC_000015.10:g.88855061T>G	gnomAD
ACAN	P16112	p.Lys827Glu	rs865898745	missense variant	-	NC_000015.10:g.88855064A>G	TOPMed
ACAN	P16112	p.Glu828Gly	rs201767607	missense variant	-	NC_000015.10:g.88855068A>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu828Asp	rs1216961292	missense variant	-	NC_000015.10:g.88855069G>C	gnomAD
ACAN	P16112	p.Pro829Leu	rs1461211471	missense variant	-	NC_000015.10:g.88855071C>T	gnomAD
ACAN	P16112	p.Pro829Ser	rs1277119916	missense variant	-	NC_000015.10:g.88855070C>T	gnomAD
ACAN	P16112	p.Pro831Leu	rs547171655	missense variant	-	NC_000015.10:g.88855077C>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Ser832Thr	rs747735799	missense variant	-	NC_000015.10:g.88855079T>A	ExAC,gnomAD
ACAN	P16112	p.Glu833Ala	rs771635733	missense variant	-	NC_000015.10:g.88855083A>C	ExAC,gnomAD
ACAN	P16112	p.Pro835Thr	rs772728936	missense variant	-	NC_000015.10:g.88855088C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser836Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855091T>C	NCI-TCGA
ACAN	P16112	p.Ala837Pro	rs760132170	missense variant	-	NC_000015.10:g.88855094G>C	ExAC,gnomAD
ACAN	P16112	p.Ala837Asp	rs1428070477	missense variant	-	NC_000015.10:g.88855095C>A	gnomAD
ACAN	P16112	p.Ser838Leu	rs776978647	missense variant	-	NC_000015.10:g.88855098C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro841Leu	rs1386240559	missense variant	-	NC_000015.10:g.88855107C>T	TOPMed,gnomAD
ACAN	P16112	p.Thr843Arg	rs758574714	missense variant	-	NC_000015.10:g.88855113C>G	ExAC,gnomAD
ACAN	P16112	p.Thr843Lys	COSM1375277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855113C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Thr843Ala	rs1013690790	missense variant	-	NC_000015.10:g.88855112A>G	TOPMed,gnomAD
ACAN	P16112	p.Pro844Leu	rs1273679415	missense variant	-	NC_000015.10:g.88855116C>T	gnomAD
ACAN	P16112	p.Pro844Ser	rs1433688834	missense variant	-	NC_000015.10:g.88855115C>T	gnomAD
ACAN	P16112	p.Pro847Ala	rs372267862	missense variant	-	NC_000015.10:g.88855124C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro847Thr	rs372267862	missense variant	-	NC_000015.10:g.88855124C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val848Met	rs368584197	missense variant	-	NC_000015.10:g.88855127G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val848CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88855121C>-	NCI-TCGA
ACAN	P16112	p.Pro849Ala	rs749234782	missense variant	-	NC_000015.10:g.88855130C>G	ExAC,gnomAD
ACAN	P16112	p.Ser850Gly	rs150116620	missense variant	-	NC_000015.10:g.88855133A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu853Asp	rs748671945	missense variant	-	NC_000015.10:g.88855144G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro855Ser	COSM4057714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855148C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser857Cys	rs1018436348	missense variant	-	NC_000015.10:g.88855155C>G	TOPMed
ACAN	P16112	p.Gly858Arg	rs772707511	missense variant	-	NC_000015.10:g.88855157G>C	ExAC,gnomAD
ACAN	P16112	p.Gly858Arg	rs772707511	missense variant	-	NC_000015.10:g.88855157G>A	ExAC,gnomAD
ACAN	P16112	p.Gly858Arg	RCV000437939	missense variant	-	NC_000015.10:g.88855157G>A	ClinVar
ACAN	P16112	p.Glu859Asp	rs746720958	missense variant	-	NC_000015.10:g.88855162G>C	ExAC,gnomAD
ACAN	P16112	p.Ser861Cys	rs1392497696	missense variant	-	NC_000015.10:g.88855167C>G	gnomAD
ACAN	P16112	p.Ser861Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855167C>T	NCI-TCGA
ACAN	P16112	p.Pro864Ser	rs1354321265	missense variant	-	NC_000015.10:g.88855175C>T	TOPMed
ACAN	P16112	p.Pro864Leu	rs3743398	missense variant	-	NC_000015.10:g.88855176C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp865Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855179A>G	NCI-TCGA
ACAN	P16112	p.Val866Ile	rs776186236	missense variant	-	NC_000015.10:g.88855181G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly868Asp	rs372878138	missense variant	-	NC_000015.10:g.88855188G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr871Ala	rs1290760388	missense variant	-	NC_000015.10:g.88855196A>G	gnomAD
ACAN	P16112	p.Gly874Ala	rs945279211	missense variant	-	NC_000015.10:g.88855206G>C	TOPMed
ACAN	P16112	p.Gly878Glu	rs770312420	missense variant	-	NC_000015.10:g.88855218G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.His879Gln	rs1042695385	missense variant	-	NC_000015.10:g.88855222C>A	TOPMed
ACAN	P16112	p.His879Leu	rs1266378954	missense variant	-	NC_000015.10:g.88855221A>T	gnomAD
ACAN	P16112	p.Leu880His	rs775794880	missense variant	-	NC_000015.10:g.88855224T>A	ExAC,gnomAD
ACAN	P16112	p.Asp881Glu	COSM259284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855228C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Phe882Val	rs1460966527	missense variant	-	NC_000015.10:g.88855229T>G	TOPMed
ACAN	P16112	p.Phe882Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855231C>A	NCI-TCGA
ACAN	P16112	p.Ser883Asn	rs200269121	missense variant	-	NC_000015.10:g.88855233G>A	TOPMed
ACAN	P16112	p.Ser883Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855234T>A	NCI-TCGA
ACAN	P16112	p.Gln885Glu	rs374881297	missense variant	-	NC_000015.10:g.88855238C>G	ESP,TOPMed,gnomAD
ACAN	P16112	p.Gly888Glu	rs763199875	missense variant	-	NC_000015.10:g.88855248G>A	ExAC,gnomAD
ACAN	P16112	p.Gly888Ala	rs763199875	missense variant	-	NC_000015.10:g.88855248G>C	ExAC,gnomAD
ACAN	P16112	p.Asp889Asn	rs764571461	missense variant	-	NC_000015.10:g.88855250G>A	ExAC,gnomAD
ACAN	P16112	p.Asp889His	rs764571461	missense variant	-	NC_000015.10:g.88855250G>C	ExAC,gnomAD
ACAN	P16112	p.Arg890Thr	rs751720191	missense variant	-	NC_000015.10:g.88855254G>C	ExAC,gnomAD
ACAN	P16112	p.Ala891Ser	rs762163984	missense variant	-	NC_000015.10:g.88855256G>T	ExAC,gnomAD
ACAN	P16112	p.Ser892Gly	rs1418411643	missense variant	-	NC_000015.10:g.88855259A>G	TOPMed,gnomAD
ACAN	P16112	p.Pro895Leu	rs1459414684	missense variant	-	NC_000015.10:g.88855269C>T	TOPMed
ACAN	P16112	p.Pro895Ser	COSM3969329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855268C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser896Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855272C>A	NCI-TCGA
ACAN	P16112	p.Gly897Ter	rs1370011974	stop gained	-	NC_000015.10:g.88855274G>T	gnomAD
ACAN	P16112	p.Leu899Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855280C>G	NCI-TCGA
ACAN	P16112	p.Asp900Asn	COSM3505115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855283G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ser901Phe	rs1162299565	missense variant	-	NC_000015.10:g.88855287C>T	TOPMed,gnomAD
ACAN	P16112	p.Ser902Thr	rs754913339	missense variant	-	NC_000015.10:g.88855290G>C	ExAC,gnomAD
ACAN	P16112	p.Gly903Val	rs779024114	missense variant	-	NC_000015.10:g.88855293G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly903Asp	rs779024114	missense variant	-	NC_000015.10:g.88855293G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr905Ile	rs758104180	missense variant	-	NC_000015.10:g.88855299C>T	ExAC,gnomAD
ACAN	P16112	p.Ser906Phe	COSM3505117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855302C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Val908Gly	rs1314009400	missense variant	-	NC_000015.10:g.88855308T>G	gnomAD
ACAN	P16112	p.Gly909Cys	rs777677916	missense variant	-	NC_000015.10:g.88855310G>T	ExAC,gnomAD
ACAN	P16112	p.Gly909Ser	rs777677916	missense variant	-	NC_000015.10:g.88855310G>A	ExAC,gnomAD
ACAN	P16112	p.Gly911Arg	rs1314714838	missense variant	-	NC_000015.10:g.88855316G>C	gnomAD
ACAN	P16112	p.Gly911Asp	rs746633929	missense variant	-	NC_000015.10:g.88855317G>A	ExAC,gnomAD
ACAN	P16112	p.Pro913Thr	rs35430524	missense variant	-	NC_000015.10:g.88855322C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val914Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855325G>T	NCI-TCGA
ACAN	P16112	p.Ser916Cys	rs769337152	missense variant	-	NC_000015.10:g.88855331A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser916Arg	rs775956303	missense variant	-	NC_000015.10:g.88855333T>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly917Arg	rs1421839249	missense variant	-	NC_000015.10:g.88855334G>A	gnomAD
ACAN	P16112	p.Ser920Pro	rs377554089	missense variant	-	NC_000015.10:g.88855343T>C	ESP,gnomAD
ACAN	P16112	p.Ser920Leu	rs774783018	missense variant	-	NC_000015.10:g.88855344C>T	ExAC,gnomAD
ACAN	P16112	p.Ser920Ter	rs774783018	stop gained	-	NC_000015.10:g.88855344C>A	ExAC,gnomAD
ACAN	P16112	p.Gly921Val	rs767873732	missense variant	-	NC_000015.10:g.88855347G>T	ExAC,gnomAD
ACAN	P16112	p.Gly921Arg	COSM3887718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855346G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Asp922Asn	rs927161846	missense variant	-	NC_000015.10:g.88855349G>A	TOPMed
ACAN	P16112	p.Glu923Ala	rs1404892129	missense variant	-	NC_000015.10:g.88855353A>C	gnomAD
ACAN	P16112	p.Arg925Lys	COSM3794496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855359G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ile926Thr	rs1394715792	missense variant	-	NC_000015.10:g.88855362T>C	gnomAD
ACAN	P16112	p.Ile926Phe	rs1166918963	missense variant	-	NC_000015.10:g.88855361A>T	TOPMed
ACAN	P16112	p.Pro929Thr	rs546089499	missense variant	-	NC_000015.10:g.88855370C>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro929Ser	rs546089499	missense variant	-	NC_000015.10:g.88855370C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser930Ile	rs938608	missense variant	-	NC_000015.10:g.88855374G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser930Arg	rs1230932339	missense variant	-	NC_000015.10:g.88855375C>A	gnomAD
ACAN	P16112	p.Thr931Ile	rs1374551151	missense variant	-	NC_000015.10:g.88855377C>T	-
ACAN	P16112	p.Pro932Ser	rs1295619279	missense variant	-	NC_000015.10:g.88855379C>T	gnomAD
ACAN	P16112	p.Thr933Ala	rs1441891061	missense variant	-	NC_000015.10:g.88855382A>G	TOPMed
ACAN	P16112	p.Thr933Met	rs376179210	missense variant	-	NC_000015.10:g.88855383C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val934Phe	rs1257757514	missense variant	-	NC_000015.10:g.88855385G>T	gnomAD
ACAN	P16112	p.Gly935Asp	COSM1470773	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855389G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gly935Val	rs1489062655	missense variant	-	NC_000015.10:g.88855389G>T	TOPMed
ACAN	P16112	p.Glu936Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.88855391G>T	NCI-TCGA
ACAN	P16112	p.Glu936Lys	rs1482228246	missense variant	-	NC_000015.10:g.88855391G>A	gnomAD
ACAN	P16112	p.Ser939Thr	rs938609	missense variant	-	NC_000015.10:g.88855400T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly940Arg	rs1466055345	missense variant	-	NC_000015.10:g.88855403G>A	gnomAD
ACAN	P16112	p.Ala941Val	rs780795750	missense variant	-	NC_000015.10:g.88855407C>T	ExAC,gnomAD
ACAN	P16112	p.Glu942Asp	rs1260532722	missense variant	-	NC_000015.10:g.88855411G>T	gnomAD
ACAN	P16112	p.Leu944Pro	rs1177593426	missense variant	-	NC_000015.10:g.88855416T>C	gnomAD
ACAN	P16112	p.Leu944Ile	rs745572907	missense variant	-	NC_000015.10:g.88855415C>A	ExAC,gnomAD
ACAN	P16112	p.Glu945Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855418G>A	NCI-TCGA
ACAN	P16112	p.Gly946Ala	rs528876577	missense variant	-	NC_000015.10:g.88855422G>C	1000Genomes,TOPMed
ACAN	P16112	p.Gly946Ser	rs561378076	missense variant	-	NC_000015.10:g.88855421G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly946Val	rs528876577	missense variant	-	NC_000015.10:g.88855422G>T	1000Genomes,TOPMed
ACAN	P16112	p.Gly946Cys	rs561378076	missense variant	-	NC_000015.10:g.88855421G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala948Val	rs559189679	missense variant	-	NC_000015.10:g.88855428C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala948Pro	rs138620973	missense variant	-	NC_000015.10:g.88855427G>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala948Ser	rs138620973	missense variant	-	NC_000015.10:g.88855427G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly950Arg	COSM223805	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855433G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Val951Ile	rs1233295673	missense variant	-	NC_000015.10:g.88855436G>A	TOPMed
ACAN	P16112	p.Gly952Arg	rs1437653528	missense variant	-	NC_000015.10:g.88855439G>C	gnomAD
ACAN	P16112	p.Gly952Val	rs1318791718	missense variant	-	NC_000015.10:g.88855440G>T	gnomAD
ACAN	P16112	p.Asp953Glu	rs371044633	missense variant	-	NC_000015.10:g.88855444T>A	1000Genomes,ESP,TOPMed,gnomAD
ACAN	P16112	p.Asp953Val	rs774530122	missense variant	-	NC_000015.10:g.88855443A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp953Glu	rs371044633	missense variant	-	NC_000015.10:g.88855444T>G	1000Genomes,ESP,TOPMed,gnomAD
ACAN	P16112	p.Asp953Tyr	rs1387483383	missense variant	-	NC_000015.10:g.88855442G>T	gnomAD
ACAN	P16112	p.Leu954Ile	rs569930044	missense variant	-	NC_000015.10:g.88855445C>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Leu954Phe	COSM3887720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855445C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Leu954Val	rs569930044	missense variant	-	NC_000015.10:g.88855445C>G	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Ser955Arg	rs772604061	missense variant	-	NC_000015.10:g.88855450T>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu957Phe	rs761033351	missense variant	-	NC_000015.10:g.88855454C>T	ExAC,gnomAD
ACAN	P16112	p.Gly960Glu	COSM3505125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855464G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Glu961Lys	rs776772838	missense variant	-	NC_000015.10:g.88855466G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu963Val	rs1241223088	missense variant	-	NC_000015.10:g.88855472C>G	gnomAD
ACAN	P16112	p.Thr965Ser	rs1488593030	missense variant	-	NC_000015.10:g.88855479C>G	gnomAD
ACAN	P16112	p.Thr965Ile	rs1488593030	missense variant	-	NC_000015.10:g.88855479C>T	gnomAD
ACAN	P16112	p.Ser966Cys	rs1479797477	missense variant	-	NC_000015.10:g.88855482C>G	gnomAD
ACAN	P16112	p.Ser966Thr	rs550185243	missense variant	-	NC_000015.10:g.88855481T>A	1000Genomes,TOPMed,gnomAD
ACAN	P16112	p.Ser966Ala	rs550185243	missense variant	-	NC_000015.10:g.88855481T>G	1000Genomes,TOPMed,gnomAD
ACAN	P16112	p.Ala967Val	rs1199348441	missense variant	-	NC_000015.10:g.88855485C>T	gnomAD
ACAN	P16112	p.Ser968Pro	rs568435726	missense variant	-	NC_000015.10:g.88855487T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val970Ile	rs953788738	missense variant	-	NC_000015.10:g.88855493G>A	TOPMed,gnomAD
ACAN	P16112	p.Gly971Glu	rs757026255	missense variant	-	NC_000015.10:g.88855497G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu973Ile	rs1277831540	missense variant	-	NC_000015.10:g.88855502C>A	TOPMed
ACAN	P16112	p.Leu973Pro	rs1047540516	missense variant	-	NC_000015.10:g.88855503T>C	TOPMed
ACAN	P16112	p.Leu973Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855502C>T	NCI-TCGA
ACAN	P16112	p.Leu976Phe	rs1212691565	missense variant	-	NC_000015.10:g.88855511C>T	TOPMed
ACAN	P16112	p.Pro977Ser	rs528763651	missense variant	-	NC_000015.10:g.88855514C>T	ExAC,TOPMed
ACAN	P16112	p.Gly979Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855521G>C	NCI-TCGA
ACAN	P16112	p.Gly979Val	rs190556234	missense variant	-	NC_000015.10:g.88855521G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly979Arg	rs779442875	missense variant	-	NC_000015.10:g.88855520G>A	ExAC
ACAN	P16112	p.Glu980Asp	COSM4758627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855525A>C	NCI-TCGA Cosmic
ACAN	P16112	p.Val981Leu	rs1312566533	missense variant	-	NC_000015.10:g.88855526G>C	TOPMed
ACAN	P16112	p.Leu982Ile	rs1466854237	missense variant	-	NC_000015.10:g.88855529C>A	TOPMed
ACAN	P16112	p.Glu983Gln	rs145274175	missense variant	-	NC_000015.10:g.88855532G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu983Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855532G>A	NCI-TCGA
ACAN	P16112	p.Thr984Ser	rs1168818710	missense variant	-	NC_000015.10:g.88855536C>G	TOPMed
ACAN	P16112	p.Thr985Ser	rs200194458	missense variant	-	NC_000015.10:g.88855538A>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr985Ala	RCV000210612	missense variant	Inborn genetic diseases	NC_000015.10:g.88855538A>G	ClinVar
ACAN	P16112	p.Thr985Ala	rs200194458	missense variant	-	NC_000015.10:g.88855538A>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala986Ser	rs765285584	missense variant	-	NC_000015.10:g.88855541G>T	ExAC
ACAN	P16112	p.Pro987Thr	COSM6143197	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855544C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gly988Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855547G>A	NCI-TCGA
ACAN	P16112	p.Val989Ile	rs368974937	missense variant	-	NC_000015.10:g.88855550G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu990Asp	rs1352246995	missense variant	-	NC_000015.10:g.88855555G>C	gnomAD
ACAN	P16112	p.Asp991Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855556G>A	NCI-TCGA
ACAN	P16112	p.Ile992Leu	rs1226404441	missense variant	-	NC_000015.10:g.88855559A>C	gnomAD
ACAN	P16112	p.Gly994Trp	rs767234739	missense variant	-	NC_000015.10:g.88855565G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly994Arg	rs767234739	missense variant	-	NC_000015.10:g.88855565G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu995Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855568C>A	NCI-TCGA
ACAN	P16112	p.Pro996Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855572C>T	NCI-TCGA
ACAN	P16112	p.Pro996Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855571C>T	NCI-TCGA
ACAN	P16112	p.Ser997Ala	rs546999192	missense variant	-	NC_000015.10:g.88855574T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser997Cys	rs1490045734	missense variant	-	NC_000015.10:g.88855575C>G	gnomAD
ACAN	P16112	p.Ser997Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855575C>T	NCI-TCGA
ACAN	P16112	p.Glu999Asp	rs1175889654	missense variant	-	NC_000015.10:g.88855582A>T	gnomAD
ACAN	P16112	p.Glu999Gly	rs1473844812	missense variant	-	NC_000015.10:g.88855581A>G	gnomAD
ACAN	P16112	p.Glu1002Gln	rs1270044214	missense variant	-	NC_000015.10:g.88855589G>C	TOPMed,gnomAD
ACAN	P16112	p.Thr1003Asn	rs1167188105	missense variant	-	NC_000015.10:g.88855593C>A	gnomAD
ACAN	P16112	p.Thr1003Ile	rs1167188105	missense variant	-	NC_000015.10:g.88855593C>T	gnomAD
ACAN	P16112	p.Thr1004Ala	rs34570487	missense variant	-	NC_000015.10:g.88855595A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1004Ser	rs34570487	missense variant	-	NC_000015.10:g.88855595A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1004Ala	RCV000514188	missense variant	-	NC_000015.10:g.88855595A>G	ClinVar
ACAN	P16112	p.Gly1007Val	rs1372378567	missense variant	-	NC_000015.10:g.88855605G>T	gnomAD
ACAN	P16112	p.Glu1009Asp	rs1439976934	missense variant	-	NC_000015.10:g.88855612G>T	gnomAD
ACAN	P16112	p.Asp1010Glu	rs1278835631	missense variant	-	NC_000015.10:g.88855615C>G	gnomAD
ACAN	P16112	p.Ile1011Val	rs1379643244	missense variant	-	NC_000015.10:g.88855616A>G	TOPMed,gnomAD
ACAN	P16112	p.Ser1012Gly	rs1296742035	missense variant	-	NC_000015.10:g.88855619A>G	TOPMed
ACAN	P16112	p.Gly1013Arg	rs1310225066	missense variant	-	NC_000015.10:g.88855622G>A	TOPMed,gnomAD
ACAN	P16112	p.Ser1016Cys	rs555664055	missense variant	-	NC_000015.10:g.88855632C>G	1000Genomes,TOPMed
ACAN	P16112	p.Thr1022Ile	rs778342580	missense variant	-	NC_000015.10:g.88855650C>T	ExAC
ACAN	P16112	p.Thr1023Ala	rs75032377	missense variant	-	NC_000015.10:g.88855652A>G	ExAC,gnomAD
ACAN	P16112	p.Thr1023Ser	rs75032377	missense variant	-	NC_000015.10:g.88855652A>T	ExAC,gnomAD
ACAN	P16112	p.Ala1024Val	rs778222669	missense variant	-	NC_000015.10:g.88855656C>T	ExAC
ACAN	P16112	p.Pro1025Ser	rs747396821	missense variant	-	NC_000015.10:g.88855658C>T	ExAC
ACAN	P16112	p.Thr1061Ala	rs548914391	missense variant	-	NC_000015.10:g.88855766A>G	gnomAD
ACAN	P16112	p.Thr1061Ser	rs548914391	missense variant	-	NC_000015.10:g.88855766A>T	gnomAD
ACAN	P16112	p.Ala1062Thr	rs56244342	missense variant	-	NC_000015.10:g.88855769G>A	gnomAD
ACAN	P16112	p.Ala1062Pro	rs56244342	missense variant	-	NC_000015.10:g.88855769G>C	gnomAD
ACAN	P16112	p.Pro1063Ser	rs1169427379	missense variant	-	NC_000015.10:g.88855772C>T	gnomAD
ACAN	P16112	p.Ile1068Leu	rs1392131165	missense variant	-	NC_000015.10:g.88855787A>C	gnomAD
ACAN	P16112	p.Gly1070Arg	rs1328106926	missense variant	-	NC_000015.10:g.88855793G>A	gnomAD
ACAN	P16112	p.Leu1077Val	rs1450025204	missense variant	-	NC_000015.10:g.88855814C>G	gnomAD
ACAN	P16112	p.Thr1079Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855821C>T	NCI-TCGA
ACAN	P16112	p.Thr1080Ala	rs373544100	missense variant	-	NC_000015.10:g.88855823A>G	1000Genomes
ACAN	P16112	p.Thr1080Ala	rs373544100	missense variant	-	NC_000015.10:g.88855823A>G	UniProt,dbSNP
ACAN	P16112	p.Thr1080Ala	VAR_080163	missense variant	-	NC_000015.10:g.88855823A>G	UniProt
ACAN	P16112	p.Ala1081Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855827C>T	NCI-TCGA
ACAN	P16112	p.Pro1082Ser	rs1334423732	missense variant	-	NC_000015.10:g.88855829C>T	gnomAD
ACAN	P16112	p.Gly1083Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855833G>A	NCI-TCGA
ACAN	P16112	p.Val1084Ile	rs1381638362	missense variant	-	NC_000015.10:g.88855835G>A	gnomAD
ACAN	P16112	p.Glu1085Asp	rs1228723625	missense variant	-	NC_000015.10:g.88855840G>C	gnomAD
ACAN	P16112	p.Asp1086Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855841G>T	NCI-TCGA
ACAN	P16112	p.Gly1089Arg	rs1213405183	missense variant	-	NC_000015.10:g.88855850G>A	gnomAD
ACAN	P16112	p.Pro1091Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855857C>T	NCI-TCGA
ACAN	P16112	p.Glu1094Gly	rs1175264837	missense variant	-	NC_000015.10:g.88855866A>G	TOPMed
ACAN	P16112	p.Thr1098Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88855877A>T	NCI-TCGA
ACAN	P16112	p.Ala1099Thr	rs563511597	missense variant	-	NC_000015.10:g.88855880G>A	1000Genomes,gnomAD
ACAN	P16112	p.Asp1105Glu	rs1241722055	missense variant	-	NC_000015.10:g.88855900C>G	TOPMed,gnomAD
ACAN	P16112	p.Gly1108Arg	rs1189473391	missense variant	-	NC_000015.10:g.88855907G>A	gnomAD
ACAN	P16112	p.Gly1112Glu	rs112126237	missense variant	-	NC_000015.10:g.88855920G>A	gnomAD
ACAN	P16112	p.Ala1119Asp	rs1405111541	missense variant	-	NC_000015.10:g.88855941C>A	gnomAD
ACAN	P16112	p.Ala1119Val	rs1405111541	missense variant	-	NC_000015.10:g.88855941C>T	gnomAD
ACAN	P16112	p.Pro1120Ser	rs1435468808	missense variant	-	NC_000015.10:g.88855943C>T	gnomAD
ACAN	P16112	p.Ala1194Thr	rs1322140250	missense variant	-	NC_000015.10:g.88856165G>A	gnomAD
ACAN	P16112	p.Ala1194Ser	rs1322140250	missense variant	-	NC_000015.10:g.88856165G>T	gnomAD
ACAN	P16112	p.Ala1194Thr	RCV000597945	missense variant	-	NC_000015.10:g.88856165G>A	ClinVar
ACAN	P16112	p.Ala1195Asp	rs1324313662	missense variant	-	NC_000015.10:g.88856169C>A	gnomAD
ACAN	P16112	p.Ile1201Leu	rs1429484794	missense variant	-	NC_000015.10:g.88856186A>C	gnomAD
ACAN	P16112	p.Thr1212Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856219A>T	NCI-TCGA
ACAN	P16112	p.Ala1213Thr	rs11638262	missense variant	-	NC_000015.10:g.88856222G>A	gnomAD
ACAN	P16112	p.Ala1213Ser	rs11638262	missense variant	-	NC_000015.10:g.88856222G>T	gnomAD
ACAN	P16112	p.Pro1215LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88856226C>-	NCI-TCGA
ACAN	P16112	p.Glu1227Gly	rs1225916480	missense variant	-	NC_000015.10:g.88856265A>G	gnomAD
ACAN	P16112	p.Ala1232Thr	rs113457214	missense variant	-	NC_000015.10:g.88856279G>A	gnomAD
ACAN	P16112	p.Ala1233Val	rs1323283220	missense variant	-	NC_000015.10:g.88856283C>T	gnomAD
ACAN	P16112	p.Asp1238Glu	rs200536240	missense variant	-	NC_000015.10:g.88856299C>G	gnomAD
ACAN	P16112	p.Gly1241Glu	rs1445473284	missense variant	-	NC_000015.10:g.88856307G>A	gnomAD
ACAN	P16112	p.Glu1246Gly	rs1192614257	missense variant	-	NC_000015.10:g.88856322A>G	gnomAD
ACAN	P16112	p.Ala1251Thr	rs201500718	missense variant	-	NC_000015.10:g.88856336G>A	gnomAD
ACAN	P16112	p.Ala1251Ser	rs201500718	missense variant	-	NC_000015.10:g.88856336G>T	gnomAD
ACAN	P16112	p.Ala1252Val	rs1197203192	missense variant	-	NC_000015.10:g.88856340C>T	gnomAD
ACAN	P16112	p.Ala1252Thr	rs1479020700	missense variant	-	NC_000015.10:g.88856339G>A	gnomAD
ACAN	P16112	p.Pro1253Ser	rs1428428711	missense variant	-	NC_000015.10:g.88856342C>T	gnomAD
ACAN	P16112	p.Gly1254Ala	rs1457629597	missense variant	-	NC_000015.10:g.88856346G>C	gnomAD
ACAN	P16112	p.Gly1254Ter	RCV000015374	frameshift	Spondyloepiphyseal dysplasia, kimberley type (SEDK)	NC_000015.10:g.88856343dup	ClinVar
ACAN	P16112	p.Glu1256Gly	rs1382380657	missense variant	-	NC_000015.10:g.88856352A>G	gnomAD
ACAN	P16112	p.Ile1258Leu	rs1399722427	missense variant	-	NC_000015.10:g.88856357A>C	gnomAD
ACAN	P16112	p.Ala1271Val	rs1402483015	missense variant	-	NC_000015.10:g.88856397C>T	gnomAD
ACAN	P16112	p.Ala1271Val	RCV000592859	missense variant	-	NC_000015.10:g.88856397C>T	ClinVar
ACAN	P16112	p.Ala1365Thr	rs200156631	missense variant	-	NC_000015.10:g.88856678G>A	TOPMed,gnomAD
ACAN	P16112	p.Ala1366Val	rs1229451864	missense variant	-	NC_000015.10:g.88856682C>T	TOPMed,gnomAD
ACAN	P16112	p.Ala1366Ser	rs1305200025	missense variant	-	NC_000015.10:g.88856681G>T	TOPMed
ACAN	P16112	p.Asp1371His	rs1281606349	missense variant	-	NC_000015.10:g.88856696G>C	TOPMed,gnomAD
ACAN	P16112	p.Asp1371Glu	rs1348935787	missense variant	-	NC_000015.10:g.88856698C>G	TOPMed,gnomAD
ACAN	P16112	p.Gly1374Arg	rs201302102	missense variant	-	NC_000015.10:g.88856705G>A	TOPMed,gnomAD
ACAN	P16112	p.Val1380Ala	rs561175031	missense variant	-	NC_000015.10:g.88856724T>C	1000Genomes,gnomAD
ACAN	P16112	p.Val1380Phe	RCV000757905	missense variant	Spondyloepimetaphyseal dysplasia, Aggrecan type (SEMDAG)	NC_000015.10:g.88856723G>T	ClinVar
ACAN	P16112	p.Ala1384Ser	rs61465251	missense variant	-	NC_000015.10:g.88856735G>T	TOPMed
ACAN	P16112	p.Ala1384Thr	rs61465251	missense variant	-	NC_000015.10:g.88856735G>A	TOPMed
ACAN	P16112	p.Glu1389Asp	rs529296210	missense variant	-	NC_000015.10:g.88856752G>T	1000Genomes
ACAN	P16112	p.Asp1390Glu	rs201822759	missense variant	-	NC_000015.10:g.88856755C>G	1000Genomes,TOPMed
ACAN	P16112	p.Asp1390Asn	rs1268162032	missense variant	-	NC_000015.10:g.88856753G>A	TOPMed,gnomAD
ACAN	P16112	p.Asp1390Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856755C>A	NCI-TCGA
ACAN	P16112	p.Ser1392Cys	rs56014140	missense variant	-	NC_000015.10:g.88856759A>T	gnomAD
ACAN	P16112	p.Ser1392Ile	rs1469388190	missense variant	-	NC_000015.10:g.88856760G>T	gnomAD
ACAN	P16112	p.Ser1392Gly	rs56014140	missense variant	-	NC_000015.10:g.88856759A>G	gnomAD
ACAN	P16112	p.Gly1393Val	rs1163487592	missense variant	-	NC_000015.10:g.88856763G>T	gnomAD
ACAN	P16112	p.Pro1395His	rs1422278664	missense variant	-	NC_000015.10:g.88856769C>A	gnomAD
ACAN	P16112	p.Pro1395Ser	rs1392430936	missense variant	-	NC_000015.10:g.88856768C>T	gnomAD
ACAN	P16112	p.Ser1396Tyr	rs1301966535	missense variant	-	NC_000015.10:g.88856772C>A	gnomAD
ACAN	P16112	p.Ser1396Ter	RCV000657543	frameshift	-	NC_000015.10:g.88856771del	ClinVar
ACAN	P16112	p.Gly1397Ter	rs1411008587	stop gained	-	NC_000015.10:g.88856774G>T	gnomAD
ACAN	P16112	p.Gly1397Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856774G>A	NCI-TCGA
ACAN	P16112	p.Glu1398Ter	rs1334365213	stop gained	-	NC_000015.10:g.88856777G>T	gnomAD
ACAN	P16112	p.Val1399Leu	rs1285074352	missense variant	-	NC_000015.10:g.88856780G>C	gnomAD
ACAN	P16112	p.Leu1400Val	rs1243929072	missense variant	-	NC_000015.10:g.88856783C>G	gnomAD
ACAN	P16112	p.Glu1401Ter	rs1291091273	stop gained	-	NC_000015.10:g.88856786G>T	gnomAD
ACAN	P16112	p.Glu1401Val	rs1483398464	missense variant	-	NC_000015.10:g.88856787A>T	gnomAD
ACAN	P16112	p.Thr1403Ile	rs1248248399	missense variant	-	NC_000015.10:g.88856793C>T	gnomAD
ACAN	P16112	p.Thr1403Ser	rs12899191	missense variant	-	NC_000015.10:g.88856792A>T	TOPMed,gnomAD
ACAN	P16112	p.Thr1403Ala	rs12899191	missense variant	-	NC_000015.10:g.88856792A>G	TOPMed,gnomAD
ACAN	P16112	p.Thr1403Ala	rs12899191	missense variant	-	NC_000015.10:g.88856792A>G	UniProt,dbSNP
ACAN	P16112	p.Thr1403Ala	VAR_080164	missense variant	-	NC_000015.10:g.88856792A>G	UniProt
ACAN	P16112	p.Thr1403Pro	rs12899191	missense variant	-	NC_000015.10:g.88856792A>C	TOPMed,gnomAD
ACAN	P16112	p.Ala1404Ser	rs886640161	missense variant	-	NC_000015.10:g.88856795G>T	TOPMed
ACAN	P16112	p.Pro1405Ser	rs879116073	missense variant	-	NC_000015.10:g.88856798C>T	gnomAD
ACAN	P16112	p.Pro1405His	rs1386759412	missense variant	-	NC_000015.10:g.88856799C>A	gnomAD
ACAN	P16112	p.Gly1406Arg	rs746137604	missense variant	-	NC_000015.10:g.88856801G>A	ExAC,gnomAD
ACAN	P16112	p.Gly1406Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856802G>A	NCI-TCGA
ACAN	P16112	p.Gly1406Ala	rs1390278672	missense variant	-	NC_000015.10:g.88856802G>C	gnomAD
ACAN	P16112	p.Glu1408Asp	rs769916916	missense variant	-	NC_000015.10:g.88856809G>T	ExAC,TOPMed
ACAN	P16112	p.Glu1408Gly	rs1391236842	missense variant	-	NC_000015.10:g.88856808A>G	gnomAD
ACAN	P16112	p.Glu1408Lys	rs1394961166	missense variant	-	NC_000015.10:g.88856807G>A	gnomAD
ACAN	P16112	p.Glu1409Asp	rs28559926	missense variant	-	NC_000015.10:g.88856812G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1409Asp	rs28559926	missense variant	-	NC_000015.10:g.88856812G>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1409Ter	rs1335246467	stop gained	-	NC_000015.10:g.88856810G>T	gnomAD
ACAN	P16112	p.Ser1411Cys	rs1450760590	missense variant	-	NC_000015.10:g.88856816A>T	gnomAD
ACAN	P16112	p.Ser1411Arg	COSM702205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856818C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1411Thr	rs1311841858	missense variant	-	NC_000015.10:g.88856817G>C	TOPMed
ACAN	P16112	p.Gly1412Arg	rs372314637	missense variant	-	NC_000015.10:g.88856819G>A	ESP,TOPMed,gnomAD
ACAN	P16112	p.Leu1413Phe	rs1229700998	missense variant	-	NC_000015.10:g.88856822C>T	gnomAD
ACAN	P16112	p.Pro1414Ser	rs1249607834	missense variant	-	NC_000015.10:g.88856825C>T	gnomAD
ACAN	P16112	p.Pro1414Leu	rs1338648130	missense variant	-	NC_000015.10:g.88856826C>T	gnomAD
ACAN	P16112	p.Pro1414His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856826C>A	NCI-TCGA
ACAN	P16112	p.Ser1415Thr	rs1200865982	missense variant	-	NC_000015.10:g.88856828T>A	gnomAD
ACAN	P16112	p.Ser1415Phe	rs1244781469	missense variant	-	NC_000015.10:g.88856829C>T	gnomAD
ACAN	P16112	p.Gly1416Arg	rs1459776179	missense variant	-	NC_000015.10:g.88856831G>A	gnomAD
ACAN	P16112	p.Glu1417Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856836A>C	NCI-TCGA
ACAN	P16112	p.Glu1417Lys	rs1182611057	missense variant	-	NC_000015.10:g.88856834G>A	gnomAD
ACAN	P16112	p.Glu1417Asp	rs772019426	missense variant	-	NC_000015.10:g.88856836A>T	ExAC,gnomAD
ACAN	P16112	p.Glu1417Gly	rs1248187330	missense variant	-	NC_000015.10:g.88856835A>G	gnomAD
ACAN	P16112	p.Val1418Gly	rs551867169	missense variant	-	NC_000015.10:g.88856838T>G	1000Genomes,gnomAD
ACAN	P16112	p.Val1418Leu	rs1324851145	missense variant	-	NC_000015.10:g.88856837G>C	TOPMed
ACAN	P16112	p.Val1418Ala	rs551867169	missense variant	-	NC_000015.10:g.88856838T>C	1000Genomes,gnomAD
ACAN	P16112	p.Leu1419Ile	COSM1375280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856840C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Glu1420Gln	rs376637662	missense variant	-	NC_000015.10:g.88856843G>C	ESP,gnomAD
ACAN	P16112	p.Glu1420Lys	rs376637662	missense variant	-	NC_000015.10:g.88856843G>A	ESP,gnomAD
ACAN	P16112	p.Glu1420Gly	rs772953212	missense variant	-	NC_000015.10:g.88856844A>G	ExAC,gnomAD
ACAN	P16112	p.Thr1421Ile	rs760430869	missense variant	-	NC_000015.10:g.88856847C>T	ExAC
ACAN	P16112	p.Thr1422Ser	rs35546357	missense variant	-	NC_000015.10:g.88856849A>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1422Ala	rs35546357	missense variant	-	NC_000015.10:g.88856849A>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1422Ala	RCV000343400	missense variant	-	NC_000015.10:g.88856849A>G	ClinVar
ACAN	P16112	p.Thr1422Pro	rs35546357	missense variant	-	NC_000015.10:g.88856849A>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1422Asn	rs1408782528	missense variant	-	NC_000015.10:g.88856850C>A	gnomAD
ACAN	P16112	p.Ala1423Val	rs759176877	missense variant	-	NC_000015.10:g.88856853C>T	ExAC
ACAN	P16112	p.Ala1423Thr	rs1468507534	missense variant	-	NC_000015.10:g.88856852G>A	gnomAD
ACAN	P16112	p.Pro1424Ser	rs764734177	missense variant	-	NC_000015.10:g.88856855C>T	ExAC,gnomAD
ACAN	P16112	p.Pro1424Thr	rs764734177	missense variant	-	NC_000015.10:g.88856855C>A	ExAC,gnomAD
ACAN	P16112	p.Gly1425Ala	COSM3794498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856859G>C	NCI-TCGA Cosmic
ACAN	P16112	p.Val1426Ile	rs371237177	missense variant	-	NC_000015.10:g.88856861G>A	ESP,TOPMed,gnomAD
ACAN	P16112	p.Asp1427Glu	rs377697360	missense variant	-	NC_000015.10:g.88856866T>G	TOPMed,gnomAD
ACAN	P16112	p.Asp1427Val	rs1325890317	missense variant	-	NC_000015.10:g.88856865A>T	gnomAD
ACAN	P16112	p.Glu1428Asp	rs537253113	missense variant	-	NC_000015.10:g.88856869G>C	1000Genomes,TOPMed,gnomAD
ACAN	P16112	p.Glu1428Gly	rs1264866347	missense variant	-	NC_000015.10:g.88856868A>G	gnomAD
ACAN	P16112	p.Glu1428Gln	rs1233910747	missense variant	-	NC_000015.10:g.88856867G>C	gnomAD
ACAN	P16112	p.Ile1429Thr	rs1202791425	missense variant	-	NC_000015.10:g.88856871T>C	gnomAD
ACAN	P16112	p.Gly1431Arg	rs1268432953	missense variant	-	NC_000015.10:g.88856876G>A	gnomAD
ACAN	P16112	p.Pro1433Leu	rs1486630474	missense variant	-	NC_000015.10:g.88856883C>T	gnomAD
ACAN	P16112	p.Ser1434Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856885T>G	NCI-TCGA
ACAN	P16112	p.Ser1434Tyr	COSM966230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856886C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1434Phe	rs1184295083	missense variant	-	NC_000015.10:g.88856886C>T	gnomAD
ACAN	P16112	p.Gly1435Val	rs1433210685	missense variant	-	NC_000015.10:g.88856889G>T	gnomAD
ACAN	P16112	p.Gly1435Arg	rs1008142921	missense variant	-	NC_000015.10:g.88856888G>A	TOPMed,gnomAD
ACAN	P16112	p.Glu1436Gly	rs1432082194	missense variant	-	NC_000015.10:g.88856892A>G	gnomAD
ACAN	P16112	p.Glu1436Lys	rs1200794281	missense variant	-	NC_000015.10:g.88856891G>A	gnomAD
ACAN	P16112	p.Glu1436Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856893A>T	NCI-TCGA
ACAN	P16112	p.Glu1439Ter	rs1346058798	stop gained	-	NC_000015.10:g.88856900G>T	gnomAD
ACAN	P16112	p.Thr1440Asn	rs1455568775	missense variant	-	NC_000015.10:g.88856904C>A	gnomAD
ACAN	P16112	p.Thr1441Ala	rs200437529	missense variant	-	NC_000015.10:g.88856906A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1442Val	rs1387358007	missense variant	-	NC_000015.10:g.88856910C>T	gnomAD
ACAN	P16112	p.Ala1442Ser	rs1384365231	missense variant	-	NC_000015.10:g.88856909G>T	gnomAD
ACAN	P16112	p.Gly1444Ter	rs1343551799	stop gained	-	NC_000015.10:g.88856915G>T	gnomAD
ACAN	P16112	p.Val1445Ala	rs757632511	missense variant	-	NC_000015.10:g.88856919T>C	ExAC
ACAN	P16112	p.Val1445Leu	rs1288710054	missense variant	-	NC_000015.10:g.88856918G>T	gnomAD
ACAN	P16112	p.Glu1446Asp	rs781478525	missense variant	-	NC_000015.10:g.88856923G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1446Lys	rs1318458694	missense variant	-	NC_000015.10:g.88856921G>A	gnomAD
ACAN	P16112	p.Glu1446Asp	rs781478525	missense variant	-	NC_000015.10:g.88856923G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1447Lys	rs112335908	missense variant	-	NC_000015.10:g.88856924G>A	ExAC,gnomAD
ACAN	P16112	p.Glu1447Asp	RCV000455316	missense variant	-	NC_000015.10:g.88856926G>C	ClinVar
ACAN	P16112	p.Glu1447Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856926G>T	NCI-TCGA
ACAN	P16112	p.Glu1447Asp	rs201505307	missense variant	-	NC_000015.10:g.88856926G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile1448Phe	rs1224056384	missense variant	-	NC_000015.10:g.88856927A>T	gnomAD
ACAN	P16112	p.Ile1448Val	COSM966232	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856927A>G	NCI-TCGA Cosmic
ACAN	P16112	p.Gly1450Arg	rs768764707	missense variant	-	NC_000015.10:g.88856933G>A	ExAC,gnomAD
ACAN	P16112	p.Gly1450Val	COSM3969331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856934G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Pro1452Ser	rs1199278824	missense variant	-	NC_000015.10:g.88856939C>T	gnomAD
ACAN	P16112	p.Ser1453Ala	rs1353713366	missense variant	-	NC_000015.10:g.88856942T>G	TOPMed,gnomAD
ACAN	P16112	p.Gly1454Arg	rs1209165088	missense variant	-	NC_000015.10:g.88856945G>A	TOPMed
ACAN	P16112	p.Gly1454Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856946G>A	NCI-TCGA
ACAN	P16112	p.Glu1455Lys	rs773110836	missense variant	-	NC_000015.10:g.88856948G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val1456Gly	rs1275933879	missense variant	-	NC_000015.10:g.88856952T>G	TOPMed
ACAN	P16112	p.Val1456Ile	rs760663774	missense variant	-	NC_000015.10:g.88856951G>A	ExAC,gnomAD
ACAN	P16112	p.Leu1457Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856954C>A	NCI-TCGA
ACAN	P16112	p.Leu1457Pro	COSM6078099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856955T>C	NCI-TCGA Cosmic
ACAN	P16112	p.Thr1459Ser	rs867412218	missense variant	-	NC_000015.10:g.88856961C>G	TOPMed,gnomAD
ACAN	P16112	p.Thr1459Ile	rs867412218	missense variant	-	NC_000015.10:g.88856961C>T	TOPMed,gnomAD
ACAN	P16112	p.Ser1460Thr	rs770753187	missense variant	-	NC_000015.10:g.88856963T>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1460Ala	rs770753187	missense variant	-	NC_000015.10:g.88856963T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1461Asn	rs375536994	missense variant	-	NC_000015.10:g.88856967C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1461Pro	rs534608385	missense variant	-	NC_000015.10:g.88856966A>C	1000Genomes,ExAC,TOPMed
ACAN	P16112	p.Thr1461Ala	rs534608385	missense variant	-	NC_000015.10:g.88856966A>G	1000Genomes,ExAC,TOPMed
ACAN	P16112	p.Thr1461Ile	rs375536994	missense variant	-	NC_000015.10:g.88856967C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1462Pro	rs552723061	missense variant	-	NC_000015.10:g.88856969T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1463Val	rs369619909	missense variant	-	NC_000015.10:g.88856973C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1463Gly	rs369619909	missense variant	-	NC_000015.10:g.88856973C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1465Glu	rs781563383	missense variant	-	NC_000015.10:g.88856979G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1465Arg	rs892910896	missense variant	-	NC_000015.10:g.88856978G>A	TOPMed
ACAN	P16112	p.Asp1466Tyr	rs1247591202	missense variant	-	NC_000015.10:g.88856981G>T	gnomAD
ACAN	P16112	p.Asp1466Gly	rs1009988596	missense variant	-	NC_000015.10:g.88856982A>G	TOPMed
ACAN	P16112	p.Leu1467Val	rs368875483	missense variant	-	NC_000015.10:g.88856984C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu1467Phe	rs368875483	missense variant	-	NC_000015.10:g.88856984C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu1467Ile	rs368875483	missense variant	-	NC_000015.10:g.88856984C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1469Arg	rs1233899225	missense variant	-	NC_000015.10:g.88856990G>C	TOPMed,gnomAD
ACAN	P16112	p.Gly1469Arg	rs1233899225	missense variant	-	NC_000015.10:g.88856990G>A	TOPMed,gnomAD
ACAN	P16112	p.Leu1470Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88856993C>T	NCI-TCGA
ACAN	P16112	p.Pro1471Ser	rs376237216	missense variant	-	NC_000015.10:g.88856996C>T	gnomAD
ACAN	P16112	p.Pro1471Thr	rs376237216	missense variant	-	NC_000015.10:g.88856996C>A	gnomAD
ACAN	P16112	p.Pro1471Leu	rs1175834752	missense variant	-	NC_000015.10:g.88856997C>T	gnomAD
ACAN	P16112	p.Ser1472Phe	COSM3505135	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857000C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Gly1474Arg	rs770783402	missense variant	-	NC_000015.10:g.88857005G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1474Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857006G>A	NCI-TCGA
ACAN	P16112	p.Gly1474Arg	rs770783402	missense variant	-	NC_000015.10:g.88857005G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1475Asp	rs776435976	missense variant	-	NC_000015.10:g.88857010A>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val1476Gly	rs1340506653	missense variant	-	NC_000015.10:g.88857012T>G	gnomAD
ACAN	P16112	p.Leu1477Val	rs140867631	missense variant	-	NC_000015.10:g.88857014C>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1478Ala	rs775272723	missense variant	-	NC_000015.10:g.88857018A>C	ExAC,gnomAD
ACAN	P16112	p.Glu1478Val	rs775272723	missense variant	-	NC_000015.10:g.88857018A>T	ExAC,gnomAD
ACAN	P16112	p.Ile1479Thr	rs763634219	missense variant	-	NC_000015.10:g.88857021T>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile1479Val	rs377592925	missense variant	-	NC_000015.10:g.88857020A>G	ESP,ExAC,gnomAD
ACAN	P16112	p.Ser1480Phe	rs774014880	missense variant	-	NC_000015.10:g.88857024C>T	ExAC,gnomAD
ACAN	P16112	p.Ser1480Thr	rs1297367819	missense variant	-	NC_000015.10:g.88857023T>A	TOPMed,gnomAD
ACAN	P16112	p.Ser1480Ala	rs1297367819	missense variant	-	NC_000015.10:g.88857023T>G	TOPMed,gnomAD
ACAN	P16112	p.Ser1480Tyr	COSM966234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857024C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Val1481Ala	rs1312389951	missense variant	-	NC_000015.10:g.88857027T>C	TOPMed,gnomAD
ACAN	P16112	p.Val1481Ile	rs1454267021	missense variant	-	NC_000015.10:g.88857026G>A	TOPMed,gnomAD
ACAN	P16112	p.Val1481Leu	rs1454267021	missense variant	-	NC_000015.10:g.88857026G>C	TOPMed,gnomAD
ACAN	P16112	p.Ser1482Pro	rs1228493103	missense variant	-	NC_000015.10:g.88857029T>C	TOPMed,gnomAD
ACAN	P16112	p.Gly1483Ala	rs1472559013	missense variant	-	NC_000015.10:g.88857033G>C	TOPMed
ACAN	P16112	p.Val1484Ile	rs762333984	missense variant	-	NC_000015.10:g.88857035G>A	ExAC
ACAN	P16112	p.Glu1485Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857040G>T	NCI-TCGA
ACAN	P16112	p.Glu1485Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857038G>C	NCI-TCGA
ACAN	P16112	p.Glu1485Gly	rs1190047071	missense variant	-	NC_000015.10:g.88857039A>G	TOPMed
ACAN	P16112	p.Asp1486Gly	rs1309755283	missense variant	-	NC_000015.10:g.88857042A>G	gnomAD
ACAN	P16112	p.Asp1486Tyr	rs561163011	missense variant	-	NC_000015.10:g.88857041G>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Asp1486Asn	rs561163011	missense variant	-	NC_000015.10:g.88857041G>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Ile1487Leu	rs200795001	missense variant	-	NC_000015.10:g.88857044A>C	TOPMed
ACAN	P16112	p.Ile1487Thr	rs750980297	missense variant	-	NC_000015.10:g.88857045T>C	ExAC,gnomAD
ACAN	P16112	p.Leu1490Phe	rs756412985	missense variant	-	NC_000015.10:g.88857053C>T	ExAC,gnomAD
ACAN	P16112	p.Pro1491Ser	rs374560662	missense variant	-	NC_000015.10:g.88857056C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1491Leu	COSM5850018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857057C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Val1495Ala	rs1444155069	missense variant	-	NC_000015.10:g.88857069T>C	gnomAD
ACAN	P16112	p.Val1495Ile	rs1226117411	missense variant	-	NC_000015.10:g.88857068G>A	TOPMed
ACAN	P16112	p.Val1496Ile	rs755195338	missense variant	-	NC_000015.10:g.88857071G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1498Ser	rs1421621918	missense variant	-	NC_000015.10:g.88857077A>T	gnomAD
ACAN	P16112	p.Ser1499Ala	rs1476151656	missense variant	-	NC_000015.10:g.88857080T>G	TOPMed,gnomAD
ACAN	P16112	p.Ser1501Pro	rs528401051	missense variant	-	NC_000015.10:g.88857086T>C	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Gly1502Ala	rs1406560855	missense variant	-	NC_000015.10:g.88857090G>C	TOPMed,gnomAD
ACAN	P16112	p.Gly1502Arg	rs748195726	missense variant	-	NC_000015.10:g.88857089G>A	ExAC,gnomAD
ACAN	P16112	p.Val1506Gly	rs1330469395	missense variant	-	NC_000015.10:g.88857102T>G	TOPMed
ACAN	P16112	p.Ser1507Arg	rs981076313	missense variant	-	NC_000015.10:g.88857106T>G	TOPMed
ACAN	P16112	p.Ser1507Arg	COSM3988195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857106T>A	NCI-TCGA Cosmic
ACAN	P16112	p.Glu1508Lys	rs1321599348	missense variant	-	NC_000015.10:g.88857107G>A	TOPMed
ACAN	P16112	p.Glu1508Gly	rs2882676	missense variant	-	NC_000015.10:g.88857108A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1508Ala	RCV000353807	missense variant	-	NC_000015.10:g.88857108A>C	ClinVar
ACAN	P16112	p.Glu1508Ala	rs2882676	missense variant	-	NC_000015.10:g.88857108A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1508Ala	rs2882676	missense variant	-	NC_000015.10:g.88857108A>C	UniProt,dbSNP
ACAN	P16112	p.Glu1508Ala	VAR_080165	missense variant	-	NC_000015.10:g.88857108A>C	UniProt
ACAN	P16112	p.Leu1509Phe	rs200479865	missense variant	-	NC_000015.10:g.88857110C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1510Leu	rs769711367	missense variant	-	NC_000015.10:g.88857114C>T	ExAC,gnomAD
ACAN	P16112	p.Pro1510Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857113C>T	NCI-TCGA
ACAN	P16112	p.Ser1511Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857117C>T	NCI-TCGA
ACAN	P16112	p.Gly1512Arg	rs1271398346	missense variant	-	NC_000015.10:g.88857119G>A	gnomAD
ACAN	P16112	p.Gly1514Val	rs1359202381	missense variant	-	NC_000015.10:g.88857126G>T	gnomAD
ACAN	P16112	p.Glu1516Gln	rs775432317	missense variant	-	NC_000015.10:g.88857131G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1516Ala	rs748894957	missense variant	-	NC_000015.10:g.88857132A>C	ExAC,gnomAD
ACAN	P16112	p.Glu1516Lys	rs775432317	missense variant	-	NC_000015.10:g.88857131G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1517Ile	rs1324719028	missense variant	-	NC_000015.10:g.88857135C>T	gnomAD
ACAN	P16112	p.Ala1519Thr	rs1261557278	missense variant	-	NC_000015.10:g.88857140G>A	TOPMed,gnomAD
ACAN	P16112	p.Ala1519Ser	rs1261557278	missense variant	-	NC_000015.10:g.88857140G>T	TOPMed,gnomAD
ACAN	P16112	p.Ser1520Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857144C>T	NCI-TCGA
ACAN	P16112	p.Gly1521Glu	COSM3505141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857147G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Asp1524Glu	rs1474434745	missense variant	-	NC_000015.10:g.88857157C>A	gnomAD
ACAN	P16112	p.Asp1524Glu	rs1474434745	missense variant	-	NC_000015.10:g.88857157C>G	gnomAD
ACAN	P16112	p.Asp1524Asn	rs761198297	missense variant	-	NC_000015.10:g.88857155G>A	ExAC,gnomAD
ACAN	P16112	p.Leu1525Ile	rs1185863833	missense variant	-	NC_000015.10:g.88857158C>A	gnomAD
ACAN	P16112	p.Arg1527Gly	rs773578351	missense variant	-	NC_000015.10:g.88857164A>G	ExAC,gnomAD
ACAN	P16112	p.Leu1528Phe	rs761310519	missense variant	-	NC_000015.10:g.88857167C>T	ExAC,gnomAD
ACAN	P16112	p.Pro1529Leu	rs919760300	missense variant	-	NC_000015.10:g.88857171C>T	TOPMed
ACAN	P16112	p.Gly1531Glu	rs754214360	missense variant	-	NC_000015.10:g.88857177G>A	ExAC
ACAN	P16112	p.Glu1532Lys	rs755141817	missense variant	-	NC_000015.10:g.88857179G>A	ExAC,gnomAD
ACAN	P16112	p.Glu1532Gln	rs755141817	missense variant	-	NC_000015.10:g.88857179G>C	ExAC,gnomAD
ACAN	P16112	p.Glu1532Gly	rs982889272	missense variant	-	NC_000015.10:g.88857180A>G	TOPMed,gnomAD
ACAN	P16112	p.Glu1533Gly	rs765471639	missense variant	-	NC_000015.10:g.88857183A>G	ExAC,gnomAD
ACAN	P16112	p.Glu1533Lys	rs1450591776	missense variant	-	NC_000015.10:g.88857182G>A	TOPMed
ACAN	P16112	p.Val1534Leu	rs752999140	missense variant	-	NC_000015.10:g.88857185G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu1535Pro	rs758382728	missense variant	-	NC_000015.10:g.88857189T>C	ExAC,gnomAD
ACAN	P16112	p.Ser1538Phe	rs1344698529	missense variant	-	NC_000015.10:g.88857198C>T	gnomAD
ACAN	P16112	p.Ser1538Tyr	COSM966236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857198C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ala1539Val	rs750263558	missense variant	-	NC_000015.10:g.88857201C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1540Phe	rs1286523457	missense variant	-	NC_000015.10:g.88857204C>T	gnomAD
ACAN	P16112	p.Ser1540Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857204C>A	NCI-TCGA
ACAN	P16112	p.Gly1541Ala	rs1445419747	missense variant	-	NC_000015.10:g.88857207G>C	gnomAD
ACAN	P16112	p.Gly1541Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857207G>T	NCI-TCGA
ACAN	P16112	p.Phe1542Val	rs1379021081	missense variant	-	NC_000015.10:g.88857209T>G	TOPMed
ACAN	P16112	p.Phe1542Cys	COSM259285	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857210T>G	NCI-TCGA Cosmic
ACAN	P16112	p.Asp1544Tyr	rs779949572	missense variant	-	NC_000015.10:g.88857215G>T	ExAC,gnomAD
ACAN	P16112	p.Asp1544Val	rs749127093	missense variant	-	NC_000015.10:g.88857216A>T	ExAC,gnomAD
ACAN	P16112	p.Ser1546Arg	rs1347049491	missense variant	-	NC_000015.10:g.88857221A>C	TOPMed,gnomAD
ACAN	P16112	p.Ser1546Cys	rs1347049491	missense variant	-	NC_000015.10:g.88857221A>T	TOPMed,gnomAD
ACAN	P16112	p.Gly1547Arg	rs368770768	missense variant	-	NC_000015.10:g.88857224G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1547Arg	RCV000435049	missense variant	-	NC_000015.10:g.88857224G>A	ClinVar
ACAN	P16112	p.Gly1547Val	rs1325634176	missense variant	-	NC_000015.10:g.88857225G>T	TOPMed
ACAN	P16112	p.Pro1549His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857231C>A	NCI-TCGA
ACAN	P16112	p.Pro1549Ser	COSM2014918	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857230C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1550Phe	rs1470354378	missense variant	-	NC_000015.10:g.88857234C>T	gnomAD
ACAN	P16112	p.Gly1551Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857237G>T	NCI-TCGA
ACAN	P16112	p.Gly1552Glu	COSM3505145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857240G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Glu1553Asp	rs1159622069	missense variant	-	NC_000015.10:g.88857244A>C	TOPMed
ACAN	P16112	p.Glu1553Ter	RCV000508982	nonsense	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88857242G>T	ClinVar
ACAN	P16112	p.Glu1553Ter	rs1555456128	stop gained	-	NC_000015.10:g.88857242G>T	-
ACAN	P16112	p.Gly1554Arg	rs944053619	missense variant	-	NC_000015.10:g.88857245G>C	TOPMed
ACAN	P16112	p.Gly1554Asp	rs747893607	missense variant	-	NC_000015.10:g.88857246G>A	ExAC,gnomAD
ACAN	P16112	p.Gly1554Val	rs747893607	missense variant	-	NC_000015.10:g.88857246G>T	ExAC,gnomAD
ACAN	P16112	p.Leu1555Val	rs771476372	missense variant	-	NC_000015.10:g.88857248C>G	ExAC,gnomAD
ACAN	P16112	p.Glu1556Gln	rs761692908	missense variant	-	NC_000015.10:g.88857251G>C	TOPMed
ACAN	P16112	p.Glu1556Val	rs193215219	missense variant	-	NC_000015.10:g.88857252A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1556Lys	rs761692908	missense variant	-	NC_000015.10:g.88857251G>A	TOPMed
ACAN	P16112	p.Thr1557Asn	rs1246733880	missense variant	-	NC_000015.10:g.88857255C>A	TOPMed
ACAN	P16112	p.Ser1558Phe	rs761111724	missense variant	-	NC_000015.10:g.88857258C>T	ExAC,gnomAD
ACAN	P16112	p.Ala1559Ser	rs1330890307	missense variant	-	NC_000015.10:g.88857260G>T	gnomAD
ACAN	P16112	p.Ala1559Pro	rs1330890307	missense variant	-	NC_000015.10:g.88857260G>C	gnomAD
ACAN	P16112	p.Gly1563Arg	rs771449137	missense variant	-	NC_000015.10:g.88857272G>C	ExAC,gnomAD
ACAN	P16112	p.Asp1565Glu	rs900122903	missense variant	-	NC_000015.10:g.88857280C>G	TOPMed,gnomAD
ACAN	P16112	p.Asp1565Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857278G>A	NCI-TCGA
ACAN	P16112	p.Ser1567Gly	rs765334806	missense variant	-	NC_000015.10:g.88857284A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1570Leu	rs373706146	missense variant	-	NC_000015.10:g.88857294C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1570His	rs373706146	missense variant	-	NC_000015.10:g.88857294C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1570Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857293C>T	NCI-TCGA
ACAN	P16112	p.Ser1571Pro	rs1292629085	missense variant	-	NC_000015.10:g.88857296T>C	gnomAD
ACAN	P16112	p.Glu1574Lys	rs940778996	missense variant	-	NC_000015.10:g.88857305G>A	gnomAD
ACAN	P16112	p.Gly1575Val	rs752861429	missense variant	-	NC_000015.10:g.88857309G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1575Asp	rs752861429	missense variant	-	NC_000015.10:g.88857309G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1580Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857324C>A	NCI-TCGA
ACAN	P16112	p.Ser1581Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857327C>A	NCI-TCGA
ACAN	P16112	p.Gly1582Glu	rs763243954	missense variant	-	NC_000015.10:g.88857330G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1583Thr	rs1448247978	missense variant	-	NC_000015.10:g.88857332G>A	TOPMed,gnomAD
ACAN	P16112	p.Ala1583Ser	rs1448247978	missense variant	-	NC_000015.10:g.88857332G>T	TOPMed,gnomAD
ACAN	P16112	p.Ala1583Gly	rs1438249197	missense variant	-	NC_000015.10:g.88857333C>G	TOPMed,gnomAD
ACAN	P16112	p.Glu1584Lys	rs371634636	missense variant	-	NC_000015.10:g.88857335G>A	ESP,ExAC,gnomAD
ACAN	P16112	p.Glu1584Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857337G>T	NCI-TCGA
ACAN	P16112	p.Glu1584Gln	COSM1478447	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857335G>C	NCI-TCGA Cosmic
ACAN	P16112	p.Asp1585Asn	rs1469339475	missense variant	-	NC_000015.10:g.88857338G>A	gnomAD
ACAN	P16112	p.Leu1586Val	rs1299082487	missense variant	-	NC_000015.10:g.88857341C>G	TOPMed
ACAN	P16112	p.Ser1587Arg	rs780109464	missense variant	-	NC_000015.10:g.88857346T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1588Trp	rs1422143751	missense variant	-	NC_000015.10:g.88857347G>T	gnomAD
ACAN	P16112	p.Pro1590Ser	rs185250189	missense variant	-	NC_000015.10:g.88857353C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1590Leu	COSM3887726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857354C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Gly1592Arg	rs1331259297	missense variant	-	NC_000015.10:g.88857359G>A	gnomAD
ACAN	P16112	p.Gly1592Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.88857359G>T	NCI-TCGA
ACAN	P16112	p.Val1597Met	rs1446345401	missense variant	-	NC_000015.10:g.88857374G>A	gnomAD
ACAN	P16112	p.Val1597Gly	rs1315922771	missense variant	-	NC_000015.10:g.88857375T>G	gnomAD
ACAN	P16112	p.Gly1598Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857378G>T	NCI-TCGA
ACAN	P16112	p.Asp1603Ala	rs1264852540	missense variant	-	NC_000015.10:g.88857393A>C	gnomAD
ACAN	P16112	p.Lys1608Asn	rs1020047216	missense variant	-	NC_000015.10:g.88857409A>T	TOPMed
ACAN	P16112	p.Lys1608Thr	rs777097401	missense variant	-	NC_000015.10:g.88857408A>C	ExAC,gnomAD
ACAN	P16112	p.Pro1610Ser	rs1457110054	missense variant	-	NC_000015.10:g.88857413C>T	gnomAD
ACAN	P16112	p.Pro1610Leu	rs553645490	missense variant	-	NC_000015.10:g.88857414C>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Gly1612Arg	rs777098563	missense variant	-	NC_000015.10:g.88857419G>A	ExAC,gnomAD
ACAN	P16112	p.Gly1612Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857420G>A	NCI-TCGA
ACAN	P16112	p.Gly1615Arg	rs571130169	missense variant	-	NC_000015.10:g.88857428G>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1616Asn	rs1368439607	missense variant	-	NC_000015.10:g.88857432G>A	gnomAD
ACAN	P16112	p.Gly1617Arg	rs375929386	missense variant	-	NC_000015.10:g.88857434G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1619Pro	rs764412011	missense variant	-	NC_000015.10:g.88857440G>C	ExAC,gnomAD
ACAN	P16112	p.Glu1621Gly	rs1264991684	missense variant	-	NC_000015.10:g.88857447A>G	TOPMed
ACAN	P16112	p.Thr1622Ala	rs28407189	missense variant	-	NC_000015.10:g.88857449A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1623Asn	rs373469771	missense variant	-	NC_000015.10:g.88857453G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1624Asp	rs1312053022	missense variant	-	NC_000015.10:g.88857456G>A	gnomAD
ACAN	P16112	p.Pro1626Leu	rs753824539	missense variant	-	NC_000015.10:g.88857462C>T	ExAC,gnomAD
ACAN	P16112	p.Pro1626Ser	rs767764933	missense variant	-	NC_000015.10:g.88857461C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1628Glu	COSM3505155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857468G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gly1628Arg	COSM393265	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857467G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1630Thr	rs752559366	missense variant	-	NC_000015.10:g.88857474G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1630Gly	rs764880375	missense variant	-	NC_000015.10:g.88857473A>G	ExAC,gnomAD
ACAN	P16112	p.Gly1631Ser	rs1401323831	missense variant	-	NC_000015.10:g.88857476G>A	TOPMed,gnomAD
ACAN	P16112	p.Gly1631Asp	rs557081659	missense variant	-	NC_000015.10:g.88857477G>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Gly1631Arg	rs1401323831	missense variant	-	NC_000015.10:g.88857476G>C	TOPMed,gnomAD
ACAN	P16112	p.Glu1632Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857481G>T	NCI-TCGA
ACAN	P16112	p.Glu1632Ala	rs777446851	missense variant	-	NC_000015.10:g.88857480A>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr1633His	rs375957533	missense variant	-	NC_000015.10:g.88857482T>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1635Arg	rs575457851	missense variant	-	NC_000015.10:g.88857488G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1635Glu	COSM6078097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857489G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Val1636Met	rs1429711449	missense variant	-	NC_000015.10:g.88857491G>A	gnomAD
ACAN	P16112	p.Asp1637Gly	rs780687613	missense variant	-	NC_000015.10:g.88857495A>G	ExAC,gnomAD
ACAN	P16112	p.Ser1640Asn	rs1422102077	missense variant	-	NC_000015.10:g.88857504G>A	gnomAD
ACAN	P16112	p.Gly1641Ser	rs746318703	missense variant	-	NC_000015.10:g.88857506G>A	ExAC,gnomAD
ACAN	P16112	p.Gly1641Val	rs770360505	missense variant	-	NC_000015.10:g.88857507G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1642Leu	rs1408624060	missense variant	-	NC_000015.10:g.88857510C>T	gnomAD
ACAN	P16112	p.Pro1643Ser	COSM966238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857512C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Pro1643Ala	rs1468454210	missense variant	-	NC_000015.10:g.88857512C>G	gnomAD
ACAN	P16112	p.Ser1644Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857516C>T	NCI-TCGA
ACAN	P16112	p.Asp1648Gly	rs1429853960	missense variant	-	NC_000015.10:g.88857528A>G	TOPMed
ACAN	P16112	p.Ser1650Thr	rs1253719216	missense variant	-	NC_000015.10:g.88857534G>C	TOPMed
ACAN	P16112	p.Pro1653Leu	COSM5384063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857543C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1654Cys	rs775681178	missense variant	-	NC_000015.10:g.88857546C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1655Ala	rs1383991847	missense variant	-	NC_000015.10:g.88857549G>C	gnomAD
ACAN	P16112	p.Gly1655Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857548G>A	NCI-TCGA
ACAN	P16112	p.Thr1658Ala	rs749633671	missense variant	-	NC_000015.10:g.88857557A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1658Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857558C>T	NCI-TCGA
ACAN	P16112	p.Val1659Leu	rs368698066	missense variant	-	NC_000015.10:g.88857560G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1660Tyr	rs1223935840	missense variant	-	NC_000015.10:g.88857564C>A	gnomAD
ACAN	P16112	p.Ser1664Phe	COSM259286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857576C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Val1667Leu	rs1260878311	missense variant	-	NC_000015.10:g.88857584G>C	gnomAD
ACAN	P16112	p.Val1667Met	rs1260878311	missense variant	-	NC_000015.10:g.88857584G>A	gnomAD
ACAN	P16112	p.Glu1668Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857588A>G	NCI-TCGA
ACAN	P16112	p.Thr1671Arg	rs1457280159	missense variant	-	NC_000015.10:g.88857597C>G	TOPMed
ACAN	P16112	p.Ala1672Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857600C>A	NCI-TCGA
ACAN	P16112	p.Ala1672Val	rs773436927	missense variant	-	NC_000015.10:g.88857600C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1672Thr	rs767636199	missense variant	-	NC_000015.10:g.88857599G>A	ExAC,gnomAD
ACAN	P16112	p.Thr1674Ala	rs759342865	missense variant	-	NC_000015.10:g.88857605A>G	ExAC,gnomAD
ACAN	P16112	p.Thr1674Ile	rs1488231630	missense variant	-	NC_000015.10:g.88857606C>T	TOPMed,gnomAD
ACAN	P16112	p.Thr1674Asn	rs1488231630	missense variant	-	NC_000015.10:g.88857606C>A	TOPMed,gnomAD
ACAN	P16112	p.Glu1677Gly	COSM3505165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857615A>G	NCI-TCGA Cosmic
ACAN	P16112	p.Glu1679Asp	rs1200729087	missense variant	-	NC_000015.10:g.88857622A>C	gnomAD
ACAN	P16112	p.Gly1680Glu	rs1320141954	missense variant	-	NC_000015.10:g.88857624G>A	TOPMed
ACAN	P16112	p.Arg1681Lys	rs1243193420	missense variant	-	NC_000015.10:g.88857627G>A	gnomAD
ACAN	P16112	p.Ile1686Leu	rs542821166	missense variant	-	NC_000015.10:g.88857641A>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile1686Phe	rs542821166	missense variant	-	NC_000015.10:g.88857641A>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1687Arg	RCV000757906	missense variant	Spondyloepimetaphyseal dysplasia, Aggrecan type (SEMDAG)	NC_000015.10:g.88857646T>A	ClinVar
ACAN	P16112	p.Gly1688Ala	rs752613906	missense variant	-	NC_000015.10:g.88857648G>C	ExAC,gnomAD
ACAN	P16112	p.Ala1689Thr	rs758186439	missense variant	-	NC_000015.10:g.88857650G>A	ExAC,gnomAD
ACAN	P16112	p.Glu1691Lys	rs1385492222	missense variant	-	NC_000015.10:g.88857656G>A	TOPMed
ACAN	P16112	p.Ile1692Val	rs763850127	missense variant	-	NC_000015.10:g.88857659A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1693Tyr	rs372919059	missense variant	-	NC_000015.10:g.88857663C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1698Asn	rs375118386	missense variant	-	NC_000015.10:g.88857678G>A	ESP,ExAC,gnomAD
ACAN	P16112	p.Asp1701Asn	COSM3505167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857686G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1703Gly	rs780589006	missense variant	-	NC_000015.10:g.88857692A>G	ExAC,gnomAD
ACAN	P16112	p.Ser1703Thr	COSM1375284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857693G>C	NCI-TCGA Cosmic
ACAN	P16112	p.Ala1706Thr	rs749818585	missense variant	-	NC_000015.10:g.88857701G>A	ExAC,gnomAD
ACAN	P16112	p.Ala1706Val	rs1236301804	missense variant	-	NC_000015.10:g.88857702C>T	TOPMed,gnomAD
ACAN	P16112	p.Ser1707Arg	rs774861720	missense variant	-	NC_000015.10:g.88857704A>C	ExAC,gnomAD
ACAN	P16112	p.Leu1709Val	rs773385814	missense variant	-	NC_000015.10:g.88857710C>G	ExAC,gnomAD
ACAN	P16112	p.Leu1709Phe	rs773385814	missense variant	-	NC_000015.10:g.88857710C>T	ExAC,gnomAD
ACAN	P16112	p.Gly1712Glu	rs760776040	missense variant	-	NC_000015.10:g.88857720G>A	ExAC,gnomAD
ACAN	P16112	p.Thr1713Ser	COSM966240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857722A>T	NCI-TCGA Cosmic
ACAN	P16112	p.Leu1715Arg	rs1424060208	missense variant	-	NC_000015.10:g.88857729T>G	TOPMed
ACAN	P16112	p.Leu1715Pro	rs1424060208	missense variant	-	NC_000015.10:g.88857729T>C	TOPMed
ACAN	P16112	p.Leu1715Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857728C>A	NCI-TCGA
ACAN	P16112	p.Ser1716Arg	rs766415216	missense variant	-	NC_000015.10:g.88857731A>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1716Ile	rs79925540	missense variant	-	NC_000015.10:g.88857732G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1716Asn	rs79925540	missense variant	-	NC_000015.10:g.88857732G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1719Val	rs762862465	missense variant	-	NC_000015.10:g.88857741C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1719Glu	rs762862465	missense variant	-	NC_000015.10:g.88857741C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1719Ser	COSM3377736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857740G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1720Tyr	COSM278572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857744C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1722Thr	rs1157033153	missense variant	-	NC_000015.10:g.88857749T>A	gnomAD
ACAN	P16112	p.Ser1722Cys	rs200794149	missense variant	-	NC_000015.10:g.88857750C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1722Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857750C>A	NCI-TCGA
ACAN	P16112	p.Pro1723Leu	rs751379789	missense variant	-	NC_000015.10:g.88857753C>T	ExAC,gnomAD
ACAN	P16112	p.Pro1723Ser	rs781449978	missense variant	-	NC_000015.10:g.88857752C>T	TOPMed
ACAN	P16112	p.Asp1724Asn	rs1165463039	missense variant	-	NC_000015.10:g.88857755G>A	TOPMed,gnomAD
ACAN	P16112	p.Asp1724His	rs1165463039	missense variant	-	NC_000015.10:g.88857755G>C	TOPMed,gnomAD
ACAN	P16112	p.Ser1726Thr	rs1348032187	missense variant	-	NC_000015.10:g.88857762G>C	gnomAD
ACAN	P16112	p.Ser1726Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857762G>T	NCI-TCGA
ACAN	P16112	p.Gly1727Arg	rs1435559307	missense variant	-	NC_000015.10:g.88857764G>A	gnomAD
ACAN	P16112	p.Glu1728GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88857763_88857764insG	NCI-TCGA
ACAN	P16112	p.Pro1730Ser	rs761419550	missense variant	-	NC_000015.10:g.88857773C>T	ExAC,gnomAD
ACAN	P16112	p.Pro1730His	rs1205184956	missense variant	-	NC_000015.10:g.88857774C>A	TOPMed,gnomAD
ACAN	P16112	p.Gly1731Val	rs1389341484	missense variant	-	NC_000015.10:g.88857777G>T	gnomAD
ACAN	P16112	p.Leu1732His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857780T>A	NCI-TCGA
ACAN	P16112	p.Phe1733Leu	rs750092063	missense variant	-	NC_000015.10:g.88857784T>G	ExAC,gnomAD
ACAN	P16112	p.Val1735Ile	rs1247515901	missense variant	-	NC_000015.10:g.88857788G>A	gnomAD
ACAN	P16112	p.Gly1737Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857795G>A	NCI-TCGA
ACAN	P16112	p.Gln1738His	rs1294649751	missense variant	-	NC_000015.10:g.88857799G>T	gnomAD
ACAN	P16112	p.Pro1739Thr	rs962063980	missense variant	-	NC_000015.10:g.88857800C>A	TOPMed,gnomAD
ACAN	P16112	p.Gly1741Arg	rs748666817	missense variant	-	NC_000015.10:g.88857806G>C	TOPMed
ACAN	P16112	p.Gly1741Arg	rs748666817	missense variant	-	NC_000015.10:g.88857806G>A	TOPMed
ACAN	P16112	p.Gly1741Val	COSM4057722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857807G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Phe1742Leu	rs779498521	missense variant	-	NC_000015.10:g.88857809T>C	ExAC,gnomAD
ACAN	P16112	p.Pro1743Ser	COSM4398295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857812C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Asp1744Gly	rs1481791889	missense variant	-	NC_000015.10:g.88857816A>G	gnomAD
ACAN	P16112	p.Asp1744Asn	rs1239958387	missense variant	-	NC_000015.10:g.88857815G>A	TOPMed
ACAN	P16112	p.Thr1745Pro	rs1177004091	missense variant	-	NC_000015.10:g.88857818A>C	gnomAD
ACAN	P16112	p.Thr1745Ile	rs754305276	missense variant	-	NC_000015.10:g.88857819C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1746Asn	rs755451428	missense variant	-	NC_000015.10:g.88857822G>A	ExAC,gnomAD
ACAN	P16112	p.Gly1747Arg	rs1441661375	missense variant	-	NC_000015.10:g.88857824G>A	gnomAD
ACAN	P16112	p.Gly1747Glu	rs1411585276	missense variant	-	NC_000015.10:g.88857825G>A	gnomAD
ACAN	P16112	p.Glu1748Ala	rs1404723937	missense variant	-	NC_000015.10:g.88857828A>C	gnomAD
ACAN	P16112	p.Thr1749Ile	rs779369587	missense variant	-	NC_000015.10:g.88857831C>T	ExAC,gnomAD
ACAN	P16112	p.Ser1750Pro	rs367732005	missense variant	-	NC_000015.10:g.88857833T>C	ESP,ExAC,gnomAD
ACAN	P16112	p.Gly1751Glu	rs371211794	missense variant	-	NC_000015.10:g.88857837G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1751Ala	rs371211794	missense variant	-	NC_000015.10:g.88857837G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1753Ala	rs770225009	missense variant	-	NC_000015.10:g.88857842A>G	ExAC,gnomAD
ACAN	P16112	p.Glu1754Lys	rs1454159116	missense variant	-	NC_000015.10:g.88857845G>A	gnomAD
ACAN	P16112	p.Leu1755His	rs367925946	missense variant	-	NC_000015.10:g.88857849T>A	ESP,ExAC,gnomAD
ACAN	P16112	p.Leu1755Ile	rs1281959099	missense variant	-	NC_000015.10:g.88857848C>A	gnomAD
ACAN	P16112	p.Gly1757Arg	rs202054679	missense variant	-	NC_000015.10:g.88857854G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1757Arg	rs202054679	missense variant	-	NC_000015.10:g.88857854G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1759Phe	rs868024119	missense variant	-	NC_000015.10:g.88857861C>T	gnomAD
ACAN	P16112	p.Gly1764Ser	rs1458046738	missense variant	-	NC_000015.10:g.88857875G>A	TOPMed
ACAN	P16112	p.Ile1765Val	rs4932439	missense variant	-	NC_000015.10:g.88857878A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile1765Thr	rs1156608507	missense variant	-	NC_000015.10:g.88857879T>C	TOPMed
ACAN	P16112	p.Ser1766Ile	rs774316706	missense variant	-	NC_000015.10:g.88857882G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1766Thr	rs774316706	missense variant	-	NC_000015.10:g.88857882G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1767Glu	rs1438922050	missense variant	-	NC_000015.10:g.88857885G>A	TOPMed
ACAN	P16112	p.Glu1768Lys	rs1461918354	missense variant	-	NC_000015.10:g.88857887G>A	gnomAD
ACAN	P16112	p.Ala1769Glu	rs1046979964	missense variant	-	NC_000015.10:g.88857891C>A	TOPMed,gnomAD
ACAN	P16112	p.Ser1770Pro	rs761577704	missense variant	-	NC_000015.10:g.88857893T>C	ExAC,gnomAD
ACAN	P16112	p.Ser1770Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857894C>A	NCI-TCGA
ACAN	P16112	p.Leu1773Pro	rs147886342	missense variant	-	NC_000015.10:g.88857903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu1773Phe	COSM5384065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857902C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Leu1773Ile	rs767359295	missense variant	-	NC_000015.10:g.88857902C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu1773Val	rs767359295	missense variant	-	NC_000015.10:g.88857902C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr1774Cys	rs1169658352	missense variant	-	NC_000015.10:g.88857906A>G	gnomAD
ACAN	P16112	p.Tyr1774Asp	rs565190001	missense variant	-	NC_000015.10:g.88857905T>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr1774His	rs565190001	missense variant	-	NC_000015.10:g.88857905T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr1774Ter	rs1406497472	stop gained	-	NC_000015.10:g.88857907T>G	gnomAD
ACAN	P16112	p.Gly1775Asp	rs1470767236	missense variant	-	NC_000015.10:g.88857909G>A	gnomAD
ACAN	P16112	p.Ser1777Asn	rs755500324	missense variant	-	NC_000015.10:g.88857915G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1777Thr	rs755500324	missense variant	-	NC_000015.10:g.88857915G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1777Gly	rs1358079504	missense variant	-	NC_000015.10:g.88857914A>G	gnomAD
ACAN	P16112	p.Gln1778Glu	rs1290025738	missense variant	-	NC_000015.10:g.88857917C>G	gnomAD
ACAN	P16112	p.Pro1779Arg	rs1342910294	missense variant	-	NC_000015.10:g.88857921C>G	gnomAD
ACAN	P16112	p.Asp1784Glu	rs1277998022	missense variant	-	NC_000015.10:g.88857937T>A	gnomAD
ACAN	P16112	p.Asp1784Asn	COSM5070147	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857935G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Asp1784Gly	rs779530084	missense variant	-	NC_000015.10:g.88857936A>G	ExAC,gnomAD
ACAN	P16112	p.Leu1785Val	rs139182220	missense variant	-	NC_000015.10:g.88857938C>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1786Arg	COSM4057724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857941A>C	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1786Asn	rs778345442	missense variant	-	NC_000015.10:g.88857942G>A	ExAC,gnomAD
ACAN	P16112	p.Glu1788Lys	COSM4895740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857947G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Thr1789Ile	rs1441976736	missense variant	-	NC_000015.10:g.88857951C>T	gnomAD
ACAN	P16112	p.Ser1790Thr	rs201149160	missense variant	-	NC_000015.10:g.88857953T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1790Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857954C>T	NCI-TCGA
ACAN	P16112	p.Ser1790Tyr	COSM966243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857954C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gly1791Glu	rs1053968435	missense variant	-	NC_000015.10:g.88857957G>A	TOPMed,gnomAD
ACAN	P16112	p.Val1792Asp	rs771069320	missense variant	-	NC_000015.10:g.88857960T>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1793Ala	rs377189756	missense variant	-	NC_000015.10:g.88857962C>G	ESP,TOPMed,gnomAD
ACAN	P16112	p.Pro1793Ser	rs377189756	missense variant	-	NC_000015.10:g.88857962C>T	ESP,TOPMed,gnomAD
ACAN	P16112	p.Leu1795Ile	rs745908761	missense variant	-	NC_000015.10:g.88857968C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1797Ala	rs769915833	missense variant	-	NC_000015.10:g.88857975G>C	ExAC
ACAN	P16112	p.Gly1797Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857975G>A	NCI-TCGA
ACAN	P16112	p.Gln1798Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88857978A>G	NCI-TCGA
ACAN	P16112	p.Gln1798Ter	RCV000508991	frameshift	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88857976del	ClinVar
ACAN	P16112	p.Gly1801Glu	rs748151960	missense variant	-	NC_000015.10:g.88857987G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1806Asn	rs1385354905	missense variant	-	NC_000015.10:g.88858002G>A	TOPMed
ACAN	P16112	p.Ser1806Arg	rs368893175	missense variant	-	NC_000015.10:g.88858003T>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1807Arg	rs772897999	missense variant	-	NC_000015.10:g.88858004G>A	ExAC,gnomAD
ACAN	P16112	p.Gly1811Glu	rs1298061114	missense variant	-	NC_000015.10:g.88858017G>A	gnomAD
ACAN	P16112	p.Gly1811Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858016G>A	NCI-TCGA
ACAN	P16112	p.Val1816Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858032T>A	NCI-TCGA
ACAN	P16112	p.Val1816Ile	COSM3887730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858031G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Val1816Phe	rs765977317	missense variant	-	NC_000015.10:g.88858031G>T	ExAC,gnomAD
ACAN	P16112	p.Val1816Ala	rs1439038423	missense variant	-	NC_000015.10:g.88858032T>C	gnomAD
ACAN	P16112	p.Gly1818Asp	rs776385464	missense variant	-	NC_000015.10:g.88858038G>A	ExAC,gnomAD
ACAN	P16112	p.Thr1819Ser	rs759095494	missense variant	-	NC_000015.10:g.88858040A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1819Ala	rs759095494	missense variant	-	NC_000015.10:g.88858040A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1820Ala	rs758975213	missense variant	-	NC_000015.10:g.88858043A>G	ExAC,gnomAD
ACAN	P16112	p.Thr1820Met	rs962377192	missense variant	-	NC_000015.10:g.88858044C>T	gnomAD
ACAN	P16112	p.Gly1824Asp	rs781252881	missense variant	-	NC_000015.10:g.88858056G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1824Ser	rs375361510	missense variant	-	NC_000015.10:g.88858055G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1825Val	rs1470324203	missense variant	-	NC_000015.10:g.88858059A>T	gnomAD
ACAN	P16112	p.Glu1825Gln	rs369426643	missense variant	-	NC_000015.10:g.88858058G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1825Lys	rs369426643	missense variant	-	NC_000015.10:g.88858058G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1827Ala	rs756182341	missense variant	-	NC_000015.10:g.88858064T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile1829Thr	rs772021322	missense variant	-	NC_000015.10:g.88858071T>C	ExAC,gnomAD
ACAN	P16112	p.Thr1830Ile	rs773018294	missense variant	-	NC_000015.10:g.88858074C>T	ExAC,gnomAD
ACAN	P16112	p.Thr1830Lys	COSM265949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858074C>A	NCI-TCGA Cosmic
ACAN	P16112	p.Phe1831Leu	rs1257157422	missense variant	-	NC_000015.10:g.88858076T>C	TOPMed
ACAN	P16112	p.Phe1831Tyr	rs376225697	missense variant	-	NC_000015.10:g.88858077T>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val1832Met	rs370620670	missense variant	-	NC_000015.10:g.88858079G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val1832Leu	rs370620670	missense variant	-	NC_000015.10:g.88858079G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp1833His	rs1275794764	missense variant	-	NC_000015.10:g.88858082G>C	TOPMed
ACAN	P16112	p.Val1837Ile	rs1311657115	missense variant	-	NC_000015.10:g.88858094G>A	gnomAD
ACAN	P16112	p.Val1839Met	rs759325407	missense variant	-	NC_000015.10:g.88858100G>A	ExAC,gnomAD
ACAN	P16112	p.Val1839Ala	rs764769401	missense variant	-	NC_000015.10:g.88858101T>C	ExAC,gnomAD
ACAN	P16112	p.Ala1840Ser	rs373484583	missense variant	-	NC_000015.10:g.88858103G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1841LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88858104C>-	NCI-TCGA
ACAN	P16112	p.Thr1842Ala	rs1358337688	missense variant	-	NC_000015.10:g.88858109A>G	TOPMed,gnomAD
ACAN	P16112	p.Thr1842Ile	rs763502181	missense variant	-	NC_000015.10:g.88858110C>T	ExAC,gnomAD
ACAN	P16112	p.Phe1844Leu	rs764480078	missense variant	-	NC_000015.10:g.88858117T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1847Val	rs752160788	missense variant	-	NC_000015.10:g.88858125A>T	ExAC,gnomAD
ACAN	P16112	p.Glu1848Asp	rs1438593382	missense variant	-	NC_000015.10:g.88858129A>C	gnomAD
ACAN	P16112	p.Glu1848Gly	rs1235973672	missense variant	-	NC_000015.10:g.88858128A>G	gnomAD
ACAN	P16112	p.Glu1848Lys	rs1470933918	missense variant	-	NC_000015.10:g.88858127G>A	TOPMed
ACAN	P16112	p.Gly1849Val	rs34124958	missense variant	-	NC_000015.10:g.88858131G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1849Ala	rs34124958	missense variant	-	NC_000015.10:g.88858131G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1851Arg	rs1161919136	missense variant	-	NC_000015.10:g.88858136G>C	gnomAD
ACAN	P16112	p.Val1853Leu	rs1410879320	missense variant	-	NC_000015.10:g.88858142G>C	gnomAD
ACAN	P16112	p.Glu1854Lys	rs780061518	missense variant	-	NC_000015.10:g.88858145G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1854Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858146A>C	NCI-TCGA
ACAN	P16112	p.Leu1855Phe	rs74505897	missense variant	-	NC_000015.10:g.88858148C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1856Asn	rs200762388	missense variant	-	NC_000015.10:g.88858152G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1856Asn	RCV000437148	missense variant	-	NC_000015.10:g.88858152G>A	ClinVar
ACAN	P16112	p.Gly1857Val	rs777548435	missense variant	-	NC_000015.10:g.88858155G>T	ExAC,gnomAD
ACAN	P16112	p.Pro1859Thr	rs747025643	missense variant	-	NC_000015.10:g.88858160C>A	ExAC,gnomAD
ACAN	P16112	p.Ser1860Phe	rs770623698	missense variant	-	NC_000015.10:g.88858164C>T	ExAC,gnomAD
ACAN	P16112	p.Ser1860Tyr	rs770623698	missense variant	-	NC_000015.10:g.88858164C>A	ExAC,gnomAD
ACAN	P16112	p.Gly1861Arg	rs201212378	missense variant	-	NC_000015.10:g.88858166G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1862Lys	rs267604367	missense variant	-	NC_000015.10:g.88858169G>A	TOPMed
ACAN	P16112	p.Leu1865Pro	rs567724750	missense variant	-	NC_000015.10:g.88858179T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu1865Gln	rs567724750	missense variant	-	NC_000015.10:g.88858179T>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1870Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858194G>A	NCI-TCGA
ACAN	P16112	p.Val1872Met	rs768274558	missense variant	-	NC_000015.10:g.88858199G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp1873His	rs762387037	missense variant	-	NC_000015.10:g.88858202G>C	ExAC,gnomAD
ACAN	P16112	p.Asp1873Glu	rs767716936	missense variant	-	NC_000015.10:g.88858204T>G	ExAC,gnomAD
ACAN	P16112	p.Ser1875Cys	rs1368391122	missense variant	-	NC_000015.10:g.88858208A>T	gnomAD
ACAN	P16112	p.Ser1875Asn	rs750810730	missense variant	-	NC_000015.10:g.88858209G>A	ExAC,TOPMed
ACAN	P16112	p.Gly1876Arg	COSM6143193	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858211G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gly1876Glu	rs546936803	missense variant	-	NC_000015.10:g.88858212G>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Gln1877Glu	rs766554442	missense variant	-	NC_000015.10:g.88858214C>G	ExAC,gnomAD
ACAN	P16112	p.Gln1877Lys	rs766554442	missense variant	-	NC_000015.10:g.88858214C>A	ExAC,gnomAD
ACAN	P16112	p.Gln1877Ter	rs766554442	stop gained	-	NC_000015.10:g.88858214C>T	ExAC,gnomAD
ACAN	P16112	p.Gly1880Val	rs1454451933	missense variant	-	NC_000015.10:g.88858224G>T	TOPMed
ACAN	P16112	p.Val1882Ile	rs754999272	missense variant	-	NC_000015.10:g.88858229G>A	ExAC,gnomAD
ACAN	P16112	p.Asp1883Asn	rs757229334	missense variant	-	NC_000015.10:g.88858232G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp1883Tyr	rs757229334	missense variant	-	NC_000015.10:g.88858232G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1886Glu	rs769763273	missense variant	-	NC_000015.10:g.88858242G>A	ExAC,TOPMed
ACAN	P16112	p.Thr1888Ile	rs377284915	missense variant	-	NC_000015.10:g.88858248C>T	ESP,ExAC,gnomAD
ACAN	P16112	p.Ser1889Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858251C>T	NCI-TCGA
ACAN	P16112	p.Pro1892Ser	rs767984963	missense variant	-	NC_000015.10:g.88858259C>T	ExAC,gnomAD
ACAN	P16112	p.Pro1892Leu	rs368491136	missense variant	-	NC_000015.10:g.88858260C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1892Arg	rs368491136	missense variant	-	NC_000015.10:g.88858260C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1892Gln	rs368491136	missense variant	-	NC_000015.10:g.88858260C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1896Asp	rs773746919	missense variant	-	NC_000015.10:g.88858272G>A	ExAC,gnomAD
ACAN	P16112	p.Pro1898Ser	rs761003367	missense variant	-	NC_000015.10:g.88858277C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1899Gly	rs1482024694	missense variant	-	NC_000015.10:g.88858280A>G	gnomAD
ACAN	P16112	p.Ser1899Asn	rs190099162	missense variant	-	NC_000015.10:g.88858281G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1902Val	rs759804072	missense variant	-	NC_000015.10:g.88858290C>T	ExAC,gnomAD
ACAN	P16112	p.Ser1905Asn	rs765168922	missense variant	-	NC_000015.10:g.88858299G>A	ExAC,gnomAD
ACAN	P16112	p.Gly1906Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858301G>A	NCI-TCGA
ACAN	P16112	p.Ser1908Cys	rs1437942537	missense variant	-	NC_000015.10:g.88858308C>G	TOPMed
ACAN	P16112	p.Ser1909Cys	rs761774197	missense variant	-	NC_000015.10:g.88858311C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg1910Lys	COSM4843246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858314G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ala1911Thr	rs757101081	missense variant	-	NC_000015.10:g.88858316G>A	ExAC,gnomAD
ACAN	P16112	p.Glu1912Ala	rs1207648352	missense variant	-	NC_000015.10:g.88858320A>C	TOPMed
ACAN	P16112	p.Ile1913Thr	rs1379576088	missense variant	-	NC_000015.10:g.88858323T>C	TOPMed,gnomAD
ACAN	P16112	p.Gly1914Arg	rs1464651103	missense variant	-	NC_000015.10:g.88858325G>A	gnomAD
ACAN	P16112	p.Ser1915Asn	rs781254805	missense variant	-	NC_000015.10:g.88858329G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1915Thr	rs781254805	missense variant	-	NC_000015.10:g.88858329G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1916Asn	COSM3505179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858332G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Leu1917Arg	rs748839172	missense variant	-	NC_000015.10:g.88858335T>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser1919Leu	rs200271564	missense variant	-	NC_000015.10:g.88858341C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1921Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858346G>A	NCI-TCGA
ACAN	P16112	p.Tyr1922Ser	rs1232021508	missense variant	-	NC_000015.10:g.88858350A>C	gnomAD
ACAN	P16112	p.Tyr1923Cys	rs1260822539	missense variant	-	NC_000015.10:g.88858353A>G	TOPMed,gnomAD
ACAN	P16112	p.Ser1925Arg	rs1219436287	missense variant	-	NC_000015.10:g.88858360T>G	gnomAD
ACAN	P16112	p.Gly1926Glu	rs1272335949	missense variant	-	NC_000015.10:g.88858362G>A	TOPMed,gnomAD
ACAN	P16112	p.Thr1927Ala	rs373374575	missense variant	-	NC_000015.10:g.88858364A>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1928Leu	COSM3887732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858368C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser1930Gly	rs1007684024	missense variant	-	NC_000015.10:g.88858373A>G	TOPMed
ACAN	P16112	p.Ser1930Ile	COSM3690594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858374G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Pro1932Leu	rs1380186484	missense variant	-	NC_000015.10:g.88858380C>T	TOPMed
ACAN	P16112	p.Thr1933Pro	rs1178236790	missense variant	-	NC_000015.10:g.88858382A>C	TOPMed
ACAN	P16112	p.Thr1933Ile	rs1269865037	missense variant	-	NC_000015.10:g.88858383C>T	gnomAD
ACAN	P16112	p.Val1934Ile	rs76282091	missense variant	-	NC_000015.10:g.88858385G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val1934Leu	rs76282091	missense variant	-	NC_000015.10:g.88858385G>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu1936Pro	rs996608087	missense variant	-	NC_000015.10:g.88858392T>C	TOPMed,gnomAD
ACAN	P16112	p.Asp1938Glu	rs1156843603	missense variant	-	NC_000015.10:g.88858399C>G	gnomAD
ACAN	P16112	p.Asp1938Val	rs1421590411	missense variant	-	NC_000015.10:g.88858398A>T	gnomAD
ACAN	P16112	p.Thr1940Asn	rs1224415651	missense variant	-	NC_000015.10:g.88858404C>A	TOPMed
ACAN	P16112	p.Val1942Leu	rs1351288020	missense variant	-	NC_000015.10:g.88858409G>T	TOPMed
ACAN	P16112	p.Glu1943Asp	rs1359805458	missense variant	-	NC_000015.10:g.88858414A>T	gnomAD
ACAN	P16112	p.Thr1946Ile	rs1458260468	missense variant	-	NC_000015.10:g.88858422C>T	gnomAD
ACAN	P16112	p.Gln1947Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858424C>A	NCI-TCGA
ACAN	P16112	p.Ala1948Val	rs759627177	missense variant	-	NC_000015.10:g.88858428C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1948Thr	rs1295097415	missense variant	-	NC_000015.10:g.88858427G>A	gnomAD
ACAN	P16112	p.Pro1949Leu	rs775613487	missense variant	-	NC_000015.10:g.88858431C>T	ExAC
ACAN	P16112	p.Thr1950Ala	rs1307178205	missense variant	-	NC_000015.10:g.88858433A>G	gnomAD
ACAN	P16112	p.Thr1950Arg	rs763076469	missense variant	-	NC_000015.10:g.88858434C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr1950Ile	rs763076469	missense variant	-	NC_000015.10:g.88858434C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala1951Thr	COSM3370298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858436G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ala1951Ser	rs764337871	missense variant	-	NC_000015.10:g.88858436G>T	ExAC,gnomAD
ACAN	P16112	p.Gln1952Arg	rs1028383965	missense variant	-	NC_000015.10:g.88858440A>G	TOPMed,gnomAD
ACAN	P16112	p.Gln1952Arg	RCV000623584	missense variant	Inborn genetic diseases	NC_000015.10:g.88858440A>G	ClinVar
ACAN	P16112	p.Glu1953Gln	rs1353578704	missense variant	-	NC_000015.10:g.88858442G>C	gnomAD
ACAN	P16112	p.Ala1954Ser	rs181541436	missense variant	-	NC_000015.10:g.88858445G>T	1000Genomes,gnomAD
ACAN	P16112	p.Ala1954Thr	rs181541436	missense variant	-	NC_000015.10:g.88858445G>A	1000Genomes,gnomAD
ACAN	P16112	p.Ala1954Val	rs1346361409	missense variant	-	NC_000015.10:g.88858446C>T	TOPMed
ACAN	P16112	p.Gly1955Glu	rs989523541	missense variant	-	NC_000015.10:g.88858449G>A	TOPMed
ACAN	P16112	p.Glu1956Lys	rs750319773	missense variant	-	NC_000015.10:g.88858451G>A	ExAC
ACAN	P16112	p.Gly1957Ala	rs756133965	missense variant	-	NC_000015.10:g.88858455G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1957Arg	rs913882402	missense variant	-	NC_000015.10:g.88858454G>C	TOPMed
ACAN	P16112	p.Gly1957Val	rs756133965	missense variant	-	NC_000015.10:g.88858455G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1960Cys	COSM702195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858463G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Gly1960Asp	rs766231705	missense variant	-	NC_000015.10:g.88858464G>A	ExAC,gnomAD
ACAN	P16112	p.Ile1961Thr	rs1423765578	missense variant	-	NC_000015.10:g.88858467T>C	TOPMed
ACAN	P16112	p.Glu1963Lys	rs967023944	missense variant	-	NC_000015.10:g.88858472G>A	TOPMed
ACAN	P16112	p.Gly1966Asp	rs1176827309	missense variant	-	NC_000015.10:g.88858482G>A	gnomAD
ACAN	P16112	p.Gly1966Cys	rs1441681150	missense variant	-	NC_000015.10:g.88858481G>T	gnomAD
ACAN	P16112	p.Ser1969Ala	rs1479852773	missense variant	-	NC_000015.10:g.88858490T>G	TOPMed
ACAN	P16112	p.Ala1971Glu	rs928167507	missense variant	-	NC_000015.10:g.88858497C>A	TOPMed,gnomAD
ACAN	P16112	p.Ala1971Thr	rs982360973	missense variant	-	NC_000015.10:g.88858496G>A	TOPMed,gnomAD
ACAN	P16112	p.Ala1971Gly	rs928167507	missense variant	-	NC_000015.10:g.88858497C>G	TOPMed,gnomAD
ACAN	P16112	p.Pro1972Ser	rs572903055	missense variant	-	NC_000015.10:g.88858499C>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Met1974Ile	rs1443985437	missense variant	-	NC_000015.10:g.88858507G>A	gnomAD
ACAN	P16112	p.Met1974Thr	rs74477529	missense variant	-	NC_000015.10:g.88858506T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1976Arg	rs1307927091	missense variant	-	NC_000015.10:g.88858511G>A	TOPMed,gnomAD
ACAN	P16112	p.Gly1976Glu	rs1382814393	missense variant	-	NC_000015.10:g.88858512G>A	gnomAD
ACAN	P16112	p.Glu1977Asp	rs200212015	missense variant	-	NC_000015.10:g.88858516G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp1983Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858534C>A	NCI-TCGA
ACAN	P16112	p.Ser1985Ile	rs746211609	missense variant	-	NC_000015.10:g.88858539G>T	ExAC,gnomAD
ACAN	P16112	p.Ser1985Arg	rs1244492523	missense variant	-	NC_000015.10:g.88858538A>C	gnomAD
ACAN	P16112	p.Ser1985Asn	rs746211609	missense variant	-	NC_000015.10:g.88858539G>A	ExAC,gnomAD
ACAN	P16112	p.Gln1988Pro	rs1459287083	missense variant	-	NC_000015.10:g.88858548A>C	gnomAD
ACAN	P16112	p.Gly1990Ala	rs372709777	missense variant	-	NC_000015.10:g.88858554G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1990Arg	rs775778624	missense variant	-	NC_000015.10:g.88858553G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1990Arg	rs775778624	missense variant	-	NC_000015.10:g.88858553G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly1990Trp	COSM6143189	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858553G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Glu1993Asp	rs774599873	missense variant	-	NC_000015.10:g.88858564G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu1993Asp	rs774599873	missense variant	-	NC_000015.10:g.88858564G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1994Arg	rs760652757	missense variant	-	NC_000015.10:g.88858566C>G	ExAC,gnomAD
ACAN	P16112	p.Ser1995Asn	rs1171085277	missense variant	-	NC_000015.10:g.88858569G>A	gnomAD
ACAN	P16112	p.Gly1996Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858572G>A	NCI-TCGA
ACAN	P16112	p.Gly1996Arg	rs377010256	missense variant	-	NC_000015.10:g.88858571G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro1999Ser	COSM4895290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858580C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Gly2000Arg	rs34546634	missense variant	-	NC_000015.10:g.88858583G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2000Ala	rs367930275	missense variant	-	NC_000015.10:g.88858584G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2000Ser	rs34546634	missense variant	-	NC_000015.10:g.88858583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2000Asp	rs367930275	missense variant	-	NC_000015.10:g.88858584G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2001Ala	rs755204048	missense variant	-	NC_000015.10:g.88858586A>G	ExAC,gnomAD
ACAN	P16112	p.Tyr2003His	rs781707379	missense variant	-	NC_000015.10:g.88858592T>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Phe2004Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858595T>A	NCI-TCGA
ACAN	P16112	p.Ser2005Gly	rs199709827	missense variant	-	NC_000015.10:g.88858598A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp2007Asn	RCV000423152	missense variant	-	NC_000015.10:g.88858604G>A	ClinVar
ACAN	P16112	p.Asp2007Asn	rs753033186	missense variant	-	NC_000015.10:g.88858604G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2009Val	rs207475683	missense variant	-	NC_000015.10:g.88858611C>T	ExAC,gnomAD
ACAN	P16112	p.Thr2011Ile	rs774757326	missense variant	-	NC_000015.10:g.88858617C>T	ExAC,gnomAD
ACAN	P16112	p.Thr2011Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858617C>A	NCI-TCGA
ACAN	P16112	p.Thr2012Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858620C>T	NCI-TCGA
ACAN	P16112	p.Asn2013Thr	rs372805764	missense variant	-	NC_000015.10:g.88858623A>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn2013Ser	rs372805764	missense variant	-	NC_000015.10:g.88858623A>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn2013Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858622A>T	NCI-TCGA
ACAN	P16112	p.Val2014Leu	rs756575823	missense variant	-	NC_000015.10:g.88858625G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2016Ala	rs1216948749	missense variant	-	NC_000015.10:g.88858632G>C	TOPMed
ACAN	P16112	p.Glu2017Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.88858634G>T	NCI-TCGA
ACAN	P16112	p.Glu2017Lys	COSM1478449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858634G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ser2018Tyr	rs375734624	missense variant	-	NC_000015.10:g.88858638C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2018Cys	rs375734624	missense variant	-	NC_000015.10:g.88858638C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val2020Ile	rs1169595623	missense variant	-	NC_000015.10:g.88858643G>A	gnomAD
ACAN	P16112	p.Ala2021Thr	rs1377382843	missense variant	-	NC_000015.10:g.88858646G>A	TOPMed
ACAN	P16112	p.Met2022Thr	rs375008777	missense variant	-	NC_000015.10:g.88858650T>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2024Ile	rs751259125	missense variant	-	NC_000015.10:g.88858656C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2024Ser	rs763703399	missense variant	-	NC_000015.10:g.88858655A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2025Cys	rs756758122	missense variant	-	NC_000015.10:g.88858658A>T	ExAC,gnomAD
ACAN	P16112	p.Gly2026Glu	rs1367346249	missense variant	-	NC_000015.10:g.88858662G>A	TOPMed,gnomAD
ACAN	P16112	p.Glu2027Lys	rs1455898146	missense variant	-	NC_000015.10:g.88858664G>A	TOPMed,gnomAD
ACAN	P16112	p.Ala2028Asp	rs750884988	missense variant	-	NC_000015.10:g.88858668C>A	ExAC,gnomAD
ACAN	P16112	p.Ala2028Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858668C>T	NCI-TCGA
ACAN	P16112	p.Ala2028Ser	rs780573868	missense variant	-	NC_000015.10:g.88858667G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2028Pro	rs780573868	missense variant	-	NC_000015.10:g.88858667G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2029Leu	rs369174647	missense variant	-	NC_000015.10:g.88858671C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2033Lys	rs982079740	missense variant	-	NC_000015.10:g.88858682G>A	TOPMed,gnomAD
ACAN	P16112	p.Thr2035Ser	rs865848414	missense variant	-	NC_000015.10:g.88858688A>T	TOPMed
ACAN	P16112	p.Leu2036Ter	rs1388840449	stop gained	-	NC_000015.10:g.88858692T>G	gnomAD
ACAN	P16112	p.Ile2037Val	rs749852017	missense variant	-	NC_000015.10:g.88858694A>G	TOPMed
ACAN	P16112	p.Thr2038Ile	rs149083251	missense variant	-	NC_000015.10:g.88858698C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2038Ile	RCV000396522	missense variant	-	NC_000015.10:g.88858698C>T	ClinVar
ACAN	P16112	p.Glu2040Asp	rs1244954235	missense variant	-	NC_000015.10:g.88858705G>C	TOPMed
ACAN	P16112	p.Val2042Met	rs200423695	missense variant	-	NC_000015.10:g.88858709G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2043Ter	rs267604368	stop gained	-	NC_000015.10:g.88858712G>T	-
ACAN	P16112	p.Glu2043Ter	RCV000624149	nonsense	Inborn genetic diseases	NC_000015.10:g.88858712G>T	ClinVar
ACAN	P16112	p.Pro2048Ala	rs201538650	missense variant	-	NC_000015.10:g.88858727C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2048Gln	rs34074148	missense variant	-	NC_000015.10:g.88858728C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2049Pro	rs369443823	missense variant	-	NC_000015.10:g.88858730A>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile2050Val	rs980418524	missense variant	-	NC_000015.10:g.88858733A>G	TOPMed,gnomAD
ACAN	P16112	p.Ser2051Phe	COSM3887736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858737C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser2051Ala	rs1247259711	missense variant	-	NC_000015.10:g.88858736T>G	TOPMed
ACAN	P16112	p.Glu2053Lys	rs547217291	missense variant	-	NC_000015.10:g.88858742G>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Leu2054Pro	rs775445247	missense variant	-	NC_000015.10:g.88858746T>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2055Asp	rs1318109289	missense variant	-	NC_000015.10:g.88858749G>A	gnomAD
ACAN	P16112	p.Gly2055Ser	rs762713480	missense variant	-	NC_000015.10:g.88858748G>A	ExAC,gnomAD
ACAN	P16112	p.Gln2056Leu	rs763932519	missense variant	-	NC_000015.10:g.88858752A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln2056Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.88858751C>T	NCI-TCGA
ACAN	P16112	p.Arg2057Ser	rs1298261577	missense variant	-	NC_000015.10:g.88858756G>T	TOPMed
ACAN	P16112	p.Pro2058Leu	rs35061438	missense variant	-	NC_000015.10:g.88858758C>T	UniProt,dbSNP
ACAN	P16112	p.Pro2058Leu	VAR_056154	missense variant	-	NC_000015.10:g.88858758C>T	UniProt
ACAN	P16112	p.Pro2058Leu	rs35061438	missense variant	-	NC_000015.10:g.88858758C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2059Leu	rs373173874	missense variant	-	NC_000015.10:g.88858761C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val2060Met	rs767004998	missense variant	-	NC_000015.10:g.88858763G>A	ExAC,gnomAD
ACAN	P16112	p.Val2060Ala	rs1240940067	missense variant	-	NC_000015.10:g.88858764T>C	gnomAD
ACAN	P16112	p.Thr2061Arg	rs1311425358	missense variant	-	NC_000015.10:g.88858767C>G	TOPMed,gnomAD
ACAN	P16112	p.Thr2063Ile	rs1351463566	missense variant	-	NC_000015.10:g.88858773C>T	gnomAD
ACAN	P16112	p.Pro2064Thr	rs1204433804	missense variant	-	NC_000015.10:g.88858775C>A	TOPMed,gnomAD
ACAN	P16112	p.Gln2065AlaPheSerTerUnk	rs751260854	frameshift	-	NC_000015.10:g.88858766_88858767AC>-	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Leu2066Arg	rs1251265317	missense variant	-	NC_000015.10:g.88858782T>G	TOPMed
ACAN	P16112	p.Leu2066Val	rs749933055	missense variant	-	NC_000015.10:g.88858781C>G	ExAC,gnomAD
ACAN	P16112	p.Phe2067Leu	rs1179034898	missense variant	-	NC_000015.10:g.88858786T>G	TOPMed
ACAN	P16112	p.Ser2070Asn	rs766973962	missense variant	-	NC_000015.10:g.88858794G>A	ExAC,gnomAD
ACAN	P16112	p.Ser2070Arg	rs755694129	missense variant	-	NC_000015.10:g.88858793A>C	ExAC,gnomAD
ACAN	P16112	p.Ser2070Ile	rs766973962	missense variant	-	NC_000015.10:g.88858794G>T	ExAC,gnomAD
ACAN	P16112	p.Gly2071Arg	rs1179934276	missense variant	-	NC_000015.10:g.88858796G>A	gnomAD
ACAN	P16112	p.Gly2071Glu	rs1377902642	missense variant	-	NC_000015.10:g.88858797G>A	gnomAD
ACAN	P16112	p.Lys2072Glu	rs746649096	missense variant	-	NC_000015.10:g.88858799A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val2073Phe	rs748318826	missense variant	-	NC_000015.10:g.88858802G>T	ExAC,gnomAD
ACAN	P16112	p.Thr2075Lys	rs1321885900	missense variant	-	NC_000015.10:g.88858809C>A	gnomAD
ACAN	P16112	p.Thr2075Ile	rs1321885900	missense variant	-	NC_000015.10:g.88858809C>T	gnomAD
ACAN	P16112	p.Asp2078Val	rs1207126105	missense variant	-	NC_000015.10:g.88858818A>T	TOPMed,gnomAD
ACAN	P16112	p.Asp2078Tyr	rs185800102	missense variant	-	NC_000015.10:g.88858817G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile2079Leu	rs1042630	missense variant	-	NC_000015.10:g.88858820A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile2079Val	rs1042630	missense variant	-	NC_000015.10:g.88858820A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile2079Val	rs1042630	missense variant	-	NC_000015.10:g.88858820A>G	UniProt,dbSNP
ACAN	P16112	p.Ile2079Val	VAR_080167	missense variant	-	NC_000015.10:g.88858820A>G	UniProt
ACAN	P16112	p.Gly2081Ala	rs771090332	missense variant	-	NC_000015.10:g.88858827G>C	ExAC,gnomAD
ACAN	P16112	p.Thr2083Ile	rs1358277450	missense variant	-	NC_000015.10:g.88858833C>T	gnomAD
ACAN	P16112	p.Pro2084Leu	rs775391979	missense variant	-	NC_000015.10:g.88858836C>T	ExAC,gnomAD
ACAN	P16112	p.Pro2087Ala	rs1307078400	missense variant	-	NC_000015.10:g.88858844C>G	TOPMed
ACAN	P16112	p.Gly2088Arg	rs1392683128	missense variant	-	NC_000015.10:g.88858847G>A	TOPMed
ACAN	P16112	p.Gly2088Ala	rs201755419	missense variant	-	NC_000015.10:g.88858848G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2089Cys	rs1457959304	missense variant	-	NC_000015.10:g.88858851C>G	gnomAD
ACAN	P16112	p.Ser2089Thr	rs1302191484	missense variant	-	NC_000015.10:g.88858850T>A	TOPMed
ACAN	P16112	p.Gly2090Arg	rs1200088081	missense variant	-	NC_000015.10:g.88858853G>A	gnomAD
ACAN	P16112	p.Gly2090Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858854G>A	NCI-TCGA
ACAN	P16112	p.Val2091Leu	rs776423623	missense variant	-	NC_000015.10:g.88858856G>T	ExAC,gnomAD
ACAN	P16112	p.Val2091Ile	rs776423623	missense variant	-	NC_000015.10:g.88858856G>A	ExAC,gnomAD
ACAN	P16112	p.Glu2092Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858859G>A	NCI-TCGA
ACAN	P16112	p.Val2096Phe	rs767050244	missense variant	-	NC_000015.10:g.88858871G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2098Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858877G>A	NCI-TCGA
ACAN	P16112	p.Glu2102Gln	rs1156630984	missense variant	-	NC_000015.10:g.88858889G>C	TOPMed
ACAN	P16112	p.Glu2102Asp	rs62023520	missense variant	-	NC_000015.10:g.88858891G>C	TOPMed,gnomAD
ACAN	P16112	p.Glu2102Lys	COSM3887738	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858889G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Thr2103Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858893C>A	NCI-TCGA
ACAN	P16112	p.Thr2103Ala	COSM966253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858892A>G	NCI-TCGA Cosmic
ACAN	P16112	p.Thr2103Met	rs375589819	missense variant	-	NC_000015.10:g.88858893C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2103Pro	rs1364382521	missense variant	-	NC_000015.10:g.88858892A>C	TOPMed
ACAN	P16112	p.Ala2105Thr	rs755552903	missense variant	-	NC_000015.10:g.88858898G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2105Thr	RCV000210648	missense variant	Inborn genetic diseases	NC_000015.10:g.88858898G>A	ClinVar
ACAN	P16112	p.Pro2107Leu	rs371419855	missense variant	-	NC_000015.10:g.88858905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2109Ser	rs753031097	missense variant	-	NC_000015.10:g.88858910G>T	ExAC,gnomAD
ACAN	P16112	p.Gly2110Ala	rs1261394262	missense variant	-	NC_000015.10:g.88858914G>C	TOPMed
ACAN	P16112	p.Phe2111Leu	rs1334810359	missense variant	-	NC_000015.10:g.88858918C>A	TOPMed,gnomAD
ACAN	P16112	p.Gly2112Arg	rs758835805	missense variant	-	NC_000015.10:g.88858919G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2112Arg	rs758835805	missense variant	-	NC_000015.10:g.88858919G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2112Glu	COSM3887740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858920G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Ala2113Val	rs1445680518	missense variant	-	NC_000015.10:g.88858923C>T	TOPMed,gnomAD
ACAN	P16112	p.Ala2116Val	rs1220093511	missense variant	-	NC_000015.10:g.88858932C>T	gnomAD
ACAN	P16112	p.Ala2116Thr	rs747312001	missense variant	-	NC_000015.10:g.88858931G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2117Ser	rs781264311	missense variant	-	NC_000015.10:g.88858934C>T	ExAC,gnomAD
ACAN	P16112	p.Glu2118Gly	rs749177064	missense variant	-	NC_000015.10:g.88858938A>G	ExAC,gnomAD
ACAN	P16112	p.Glu2118Asp	COSM966255	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858939G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Glu2118Lys	rs1315959906	missense variant	-	NC_000015.10:g.88858937G>A	TOPMed
ACAN	P16112	p.Ala2119Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858941C>T	NCI-TCGA
ACAN	P16112	p.Ala2119Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858941C>G	NCI-TCGA
ACAN	P16112	p.Ala2119Ser	rs1381499420	missense variant	-	NC_000015.10:g.88858940G>T	TOPMed
ACAN	P16112	p.Ala2119Asp	rs1385556253	missense variant	-	NC_000015.10:g.88858941C>A	TOPMed
ACAN	P16112	p.Ser2120Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858944G>A	NCI-TCGA
ACAN	P16112	p.Ser2120Arg	rs34153007	missense variant	-	NC_000015.10:g.88858945C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2120Arg	rs34153007	missense variant	-	NC_000015.10:g.88858945C>G	UniProt,dbSNP
ACAN	P16112	p.Ser2120Arg	VAR_056155	missense variant	-	NC_000015.10:g.88858945C>G	UniProt
ACAN	P16112	p.Arg2121Gly	rs1468184875	missense variant	-	NC_000015.10:g.88858946A>G	TOPMed
ACAN	P16112	p.Arg2121Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858947G>T	NCI-TCGA
ACAN	P16112	p.Arg2121Lys	rs774312864	missense variant	-	NC_000015.10:g.88858947G>A	ExAC,gnomAD
ACAN	P16112	p.Glu2122Gln	rs747876368	missense variant	-	NC_000015.10:g.88858949G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp2123His	rs1257260023	missense variant	-	NC_000015.10:g.88858952G>C	gnomAD
ACAN	P16112	p.Ser2124Ala	rs1177248665	missense variant	-	NC_000015.10:g.88858955T>G	TOPMed
ACAN	P16112	p.Ser2124Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858956C>T	NCI-TCGA
ACAN	P16112	p.Gly2125Glu	rs1027872262	missense variant	-	NC_000015.10:g.88858959G>A	TOPMed
ACAN	P16112	p.Ser2126Pro	rs772738227	missense variant	-	NC_000015.10:g.88858961T>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2126Phe	COSM3887742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858962C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Leu2129Val	rs760376412	missense variant	-	NC_000015.10:g.88858970C>G	ExAC,gnomAD
ACAN	P16112	p.Ser2130Asn	rs983617222	missense variant	-	NC_000015.10:g.88858974G>A	TOPMed,gnomAD
ACAN	P16112	p.Glu2131Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858976G>A	NCI-TCGA
ACAN	P16112	p.Thr2132Ser	rs765927279	missense variant	-	NC_000015.10:g.88858980C>G	ExAC,gnomAD
ACAN	P16112	p.Thr2132Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858979A>C	NCI-TCGA
ACAN	P16112	p.Ala2135Ser	rs1412702284	missense variant	-	NC_000015.10:g.88858988G>T	gnomAD
ACAN	P16112	p.Ala2135Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858989C>A	NCI-TCGA
ACAN	P16112	p.His2137Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88858994C>T	NCI-TCGA
ACAN	P16112	p.Glu2138Lys	rs371628768	missense variant	-	NC_000015.10:g.88858997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn2140Lys	rs372625220	missense variant	-	NC_000015.10:g.88859005C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Leu2141Ile	rs1233455548	missense variant	-	NC_000015.10:g.88859006C>A	gnomAD
ACAN	P16112	p.Leu2141Phe	rs1233455548	missense variant	-	NC_000015.10:g.88859006C>T	gnomAD
ACAN	P16112	p.Glu2142Lys	rs556062259	missense variant	-	NC_000015.10:g.88859009G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2144Cys	rs1226384388	missense variant	-	NC_000015.10:g.88859016C>G	TOPMed
ACAN	P16112	p.Ser2144Phe	COSM3887744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859016C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Ser2145Phe	rs757495567	missense variant	-	NC_000015.10:g.88859019C>T	ExAC,gnomAD
ACAN	P16112	p.Gly2146Val	rs1488852230	missense variant	-	NC_000015.10:g.88859022G>T	gnomAD
ACAN	P16112	p.Leu2147Arg	rs1196263168	missense variant	-	NC_000015.10:g.88859025T>G	gnomAD
ACAN	P16112	p.Gly2148Glu	rs922268298	missense variant	-	NC_000015.10:g.88859028G>A	TOPMed,gnomAD
ACAN	P16112	p.Gly2151Ser	rs143156437	missense variant	-	NC_000015.10:g.88859036G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2152Asn	rs1394563067	missense variant	-	NC_000015.10:g.88859040G>A	TOPMed
ACAN	P16112	p.Ser2152Cys	rs1471024295	missense variant	-	NC_000015.10:g.88859039A>T	TOPMed
ACAN	P16112	p.Ser2152Arg	rs1167515845	missense variant	-	NC_000015.10:g.88859041C>A	TOPMed
ACAN	P16112	p.Leu2154Ser	rs542651723	missense variant	-	NC_000015.10:g.88859046T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2155Lys	rs1375084314	missense variant	-	NC_000015.10:g.88859049C>A	TOPMed
ACAN	P16112	p.Glu2158Lys	rs777634655	missense variant	-	NC_000015.10:g.88859057G>A	ExAC,gnomAD
ACAN	P16112	p.Glu2158Asp	rs746590966	missense variant	-	NC_000015.10:g.88859059A>C	ExAC,gnomAD
ACAN	P16112	p.Glu2158Gln	COSM3816998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859057G>C	NCI-TCGA Cosmic
ACAN	P16112	p.Gly2159Ser	rs770733422	missense variant	-	NC_000015.10:g.88859060G>A	ExAC,gnomAD
ACAN	P16112	p.Glu2160Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88859063G>C	NCI-TCGA
ACAN	P16112	p.Glu2160Lys	rs373460432	missense variant	-	NC_000015.10:g.88859063G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2161Val	rs764318576	missense variant	-	NC_000015.10:g.88859067C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2163Gly	rs573314060	missense variant	-	NC_000015.10:g.88859073C>G	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Ala2163Thr	rs766547434	missense variant	-	NC_000015.10:g.88859072G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2164Val	rs368693410	missense variant	-	NC_000015.10:g.88859076C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2165Leu	rs540453723	missense variant	-	NC_000015.10:g.88859079C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val2167Ala	rs1414689813	missense variant	-	NC_000015.10:g.88859085T>C	gnomAD
ACAN	P16112	p.Ser2168Asn	rs752522191	missense variant	-	NC_000015.10:g.88859088G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2169Glu	rs116530539	missense variant	-	NC_000015.10:g.88859091G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2170Gln	rs777387397	missense variant	-	NC_000015.10:g.88859093G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2170Gln	rs777387397	missense variant	-	NC_000015.10:g.88859093G>C	NCI-TCGA
ACAN	P16112	p.Glu2170Gly	rs770898523	missense variant	-	NC_000015.10:g.88859094A>G	ExAC,gnomAD
ACAN	P16112	p.Glu2170Lys	rs777387397	missense variant	-	NC_000015.10:g.88859093G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2173Asn	rs1334007352	missense variant	-	NC_000015.10:g.88859103C>A	TOPMed
ACAN	P16112	p.Asp2176Tyr	rs1328287495	missense variant	-	NC_000015.10:g.88859111G>T	TOPMed
ACAN	P16112	p.Asp2176Val	rs1357274164	missense variant	-	NC_000015.10:g.88859112A>T	gnomAD
ACAN	P16112	p.Val2177Met	rs745580775	missense variant	-	NC_000015.10:g.88859114G>A	ExAC,TOPMed
ACAN	P16112	p.Val2177Ala	rs188663484	missense variant	-	NC_000015.10:g.88859115T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2179Ile	rs376406609	missense variant	-	NC_000015.10:g.88859121C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2180Gln	rs1424484084	missense variant	-	NC_000015.10:g.88859123G>C	TOPMed
ACAN	P16112	p.Pro2182Arg	rs551246840	missense variant	-	NC_000015.10:g.88859130C>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2182Thr	rs774770888	missense variant	-	NC_000015.10:g.88859129C>A	ExAC,gnomAD
ACAN	P16112	p.Pro2182Leu	rs551246840	missense variant	-	NC_000015.10:g.88859130C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2186Pro	rs1242959286	missense variant	-	NC_000015.10:g.88859141T>C	gnomAD
ACAN	P16112	p.Ala2187Pro	rs1305488924	missense variant	-	NC_000015.10:g.88859144G>C	gnomAD
ACAN	P16112	p.Pro2189Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88859151C>T	NCI-TCGA
ACAN	P16112	p.Thr2190Met	rs773358643	missense variant	-	NC_000015.10:g.88859154C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2191Ser	rs377558109	missense variant	-	NC_000015.10:g.88859156G>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2193Arg	rs1023093737	missense variant	-	NC_000015.10:g.88859162G>A	gnomAD
ACAN	P16112	p.Asp2194Asn	rs1238866748	missense variant	-	NC_000015.10:g.88859165G>A	gnomAD
ACAN	P16112	p.Arg2195Gly	rs755048682	missense variant	-	NC_000015.10:g.88859168A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2196Asn	rs1249700502	missense variant	-	NC_000015.10:g.88859172C>A	gnomAD
ACAN	P16112	p.Glu2197Lys	rs751604379	missense variant	-	NC_000015.10:g.88859174G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2197Lys	rs751604379	missense variant	-	NC_000015.10:g.88859174G>A	NCI-TCGA
ACAN	P16112	p.Gly2200Arg	rs548216816	missense variant	-	NC_000015.10:g.88859183G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp2201His	rs745458647	missense variant	-	NC_000015.10:g.88859186G>C	ExAC
ACAN	P16112	p.Ser2203Cys	COSM4818012	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859193C>G	NCI-TCGA Cosmic
ACAN	P16112	p.Ser2203Phe	rs1401931505	missense variant	-	NC_000015.10:g.88859193C>T	gnomAD
ACAN	P16112	p.Ser2207Leu	rs1373291263	missense variant	-	NC_000015.10:g.88859205C>T	gnomAD
ACAN	P16112	p.Ser2207Leu	rs1373291263	missense variant	-	NC_000015.10:g.88859205C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Val2211Ile	rs533925391	missense variant	-	NC_000015.10:g.88859216G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val2211Ile	rs533925391	missense variant	-	NC_000015.10:g.88859216G>A	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Ser2214Gly	rs773591919	missense variant	-	NC_000015.10:g.88859225A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2215Ser	rs961148092	missense variant	-	NC_000015.10:g.88859229C>G	TOPMed,gnomAD
ACAN	P16112	p.Ser2216Gly	rs760843861	missense variant	-	NC_000015.10:g.88859231A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile2217Phe	rs367726004	missense variant	-	NC_000015.10:g.88859234A>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ile2217Phe	RCV000598399	missense variant	-	NC_000015.10:g.88859234A>T	ClinVar
ACAN	P16112	p.Glu2219Gln	rs371239048	missense variant	-	NC_000015.10:g.88859240G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2219Asp	rs759647045	missense variant	-	NC_000015.10:g.88859242G>C	ExAC,gnomAD
ACAN	P16112	p.Glu2219Lys	COSM1301541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859240G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Gln2224His	rs1194006548	missense variant	-	NC_000015.10:g.88859257G>C	gnomAD
ACAN	P16112	p.Gln2224Lys	rs765299489	missense variant	-	NC_000015.10:g.88859255C>A	ExAC,gnomAD
ACAN	P16112	p.Gln2224Lys	rs765299489	missense variant	-	NC_000015.10:g.88859255C>A	NCI-TCGA
ACAN	P16112	p.Gln2225Glu	rs1425299042	missense variant	-	NC_000015.10:g.88859258C>G	TOPMed,gnomAD
ACAN	P16112	p.Thr2226Ala	COSM966259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859261A>G	NCI-TCGA Cosmic
ACAN	P16112	p.Arg2228Cys	rs751475234	missense variant	-	NC_000015.10:g.88859267C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2228Gly	rs751475234	missense variant	-	NC_000015.10:g.88859267C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2228His	rs374891622	missense variant	-	NC_000015.10:g.88859268G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2229Thr	rs767382429	missense variant	-	NC_000015.10:g.88859270C>A	ExAC,gnomAD
ACAN	P16112	p.Ala2230Gly	rs767636869	missense variant	-	NC_000015.10:g.88859274C>G	ExAC,TOPMed
ACAN	P16112	p.Ala2230Ser	rs201436752	missense variant	-	NC_000015.10:g.88859273G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2231Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88859278G>T	NCI-TCGA
ACAN	P16112	p.Thr2232Met	rs181029183	missense variant	-	NC_000015.10:g.88859280C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2232Met	RCV000294281	missense variant	-	NC_000015.10:g.88859280C>T	ClinVar
ACAN	P16112	p.Thr2232Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88859279A>G	NCI-TCGA
ACAN	P16112	p.Leu2234Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88859286T>C	NCI-TCGA
ACAN	P16112	p.Glu2237Gly	rs1279121848	missense variant	-	NC_000015.10:g.88859295A>G	gnomAD
ACAN	P16112	p.Ser2239Leu	rs372580346	missense variant	-	NC_000015.10:g.88859301C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ser2239Pro	rs1364392889	missense variant	-	NC_000015.10:g.88859300T>C	gnomAD
ACAN	P16112	p.Leu2242Pro	rs1278085269	missense variant	-	NC_000015.10:g.88859310T>C	gnomAD
ACAN	P16112	p.Tyr2243Cys	rs1223077467	missense variant	-	NC_000015.10:g.88859313A>G	TOPMed
ACAN	P16112	p.Tyr2243His	rs368163315	missense variant	-	NC_000015.10:g.88859312T>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2245Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88859319G>A	NCI-TCGA
ACAN	P16112	p.Glu2246Lys	rs771255342	missense variant	-	NC_000015.10:g.88859321G>A	ExAC,gnomAD
ACAN	P16112	p.Glu2247Lys	rs776906125	missense variant	-	NC_000015.10:g.88859324G>A	ExAC,gnomAD
ACAN	P16112	p.Thr2248Ile	rs574437652	missense variant	-	NC_000015.10:g.88859328C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.His2249Gln	rs1425338898	missense variant	-	NC_000015.10:g.88859332C>G	gnomAD
ACAN	P16112	p.Thr2250Ala	rs769936963	missense variant	-	NC_000015.10:g.88859333A>G	ExAC,gnomAD
ACAN	P16112	p.Thr2250Pro	rs769936963	missense variant	-	NC_000015.10:g.88859333A>C	ExAC,gnomAD
ACAN	P16112	p.Glu2252Ala	rs763166741	missense variant	-	NC_000015.10:g.88859340A>C	ExAC,gnomAD
ACAN	P16112	p.Glu2252Lys	rs939133572	missense variant	-	NC_000015.10:g.88859339G>A	TOPMed,gnomAD
ACAN	P16112	p.Thr2253Lys	rs1299220944	missense variant	-	NC_000015.10:g.88859343C>A	gnomAD
ACAN	P16112	p.Ala2254Thr	rs1428898443	missense variant	-	NC_000015.10:g.88859345G>A	gnomAD
ACAN	P16112	p.Thr2255Ser	rs372788256	missense variant	-	NC_000015.10:g.88859349C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2255Ser	RCV000597269	missense variant	-	NC_000015.10:g.88859349C>G	ClinVar
ACAN	P16112	p.Ser2256Phe	rs1301210241	missense variant	-	NC_000015.10:g.88859352C>T	gnomAD
ACAN	P16112	p.Pro2257Arg	rs145203473	missense variant	-	NC_000015.10:g.88859355C>G	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Thr2258Lys	rs754614021	missense variant	-	NC_000015.10:g.88859358C>A	ExAC,gnomAD
ACAN	P16112	p.Thr2258Ala	rs1229527241	missense variant	-	NC_000015.10:g.88859357A>G	TOPMed,gnomAD
ACAN	P16112	p.Ser2261Pro	rs1214701977	missense variant	-	NC_000015.10:g.88859366T>C	gnomAD
ACAN	P16112	p.Ile2262Asn	rs1489196248	missense variant	-	NC_000015.10:g.88859370T>A	TOPMed,gnomAD
ACAN	P16112	p.Pro2263Gln	rs747535301	missense variant	-	NC_000015.10:g.88859373C>A	ExAC,gnomAD
ACAN	P16112	p.Ala2264Gly	rs1049047108	missense variant	-	NC_000015.10:g.88859376C>G	TOPMed,gnomAD
ACAN	P16112	p.Ala2264Thr	rs947514583	missense variant	-	NC_000015.10:g.88859375G>A	TOPMed,gnomAD
ACAN	P16112	p.Ala2264Ser	rs947514583	missense variant	-	NC_000015.10:g.88859375G>T	TOPMed,gnomAD
ACAN	P16112	p.Pro2266Leu	rs771258166	missense variant	-	NC_000015.10:g.88859382C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2266Leu	rs771258166	missense variant	-	NC_000015.10:g.88859382C>T	NCI-TCGA
ACAN	P16112	p.Trp2268Cys	rs1350656389	missense variant	-	NC_000015.10:g.88859389G>C	gnomAD
ACAN	P16112	p.Trp2268Ter	rs1317963217	stop gained	-	NC_000015.10:g.88859388G>A	gnomAD
ACAN	P16112	p.Trp2268Gly	rs1005129901	missense variant	-	NC_000015.10:g.88859387T>G	TOPMed,gnomAD
ACAN	P16112	p.Arg2270His	rs1002981169	missense variant	-	NC_000015.10:g.88859394G>A	TOPMed,gnomAD
ACAN	P16112	p.Arg2270Cys	rs536333497	missense variant	-	NC_000015.10:g.88859393C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2271Lys	rs369258827	missense variant	-	NC_000015.10:g.88859396G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2276Pro	rs1361652325	missense variant	-	NC_000015.10:g.88859411G>C	TOPMed
ACAN	P16112	p.Ala2276Thr	rs1361652325	missense variant	-	NC_000015.10:g.88859411G>A	TOPMed
ACAN	P16112	p.Ala2278Gly	rs749098394	missense variant	-	NC_000015.10:g.88860326C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2278Val	rs749098394	missense variant	-	NC_000015.10:g.88860326C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2278Asp	rs749098394	missense variant	-	NC_000015.10:g.88860326C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2280Thr	rs531336434	missense variant	-	NC_000015.10:g.88860331G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2280Ser	rs531336434	missense variant	-	NC_000015.10:g.88860331G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2281Ser	rs1258738952	missense variant	-	NC_000015.10:g.88860336G>T	TOPMed,gnomAD
ACAN	P16112	p.Arg2281Thr	rs777268408	missense variant	-	NC_000015.10:g.88860335G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2281Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88860334A>G	NCI-TCGA
ACAN	P16112	p.Ser2282Phe	rs752044557	missense variant	-	NC_000015.10:g.88860338C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2286Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88860349G>A	NCI-TCGA
ACAN	P16112	p.Pro2287Thr	rs1186135352	missense variant	-	NC_000015.10:g.88860352C>A	gnomAD
ACAN	P16112	p.Gly2289Glu	rs781579675	missense variant	-	NC_000015.10:g.88860359G>A	ExAC,gnomAD
ACAN	P16112	p.Gly2289Arg	rs757726420	missense variant	-	NC_000015.10:g.88860358G>A	ExAC,gnomAD
ACAN	P16112	p.Gly2289Val	rs781579675	missense variant	-	NC_000015.10:g.88860359G>T	ExAC,gnomAD
ACAN	P16112	p.Ala2290Val	COSM3420696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88860362C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Gly2291Glu	rs746196673	missense variant	-	NC_000015.10:g.88860365G>A	ExAC,gnomAD
ACAN	P16112	p.Gly2291Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88860365G>T	NCI-TCGA
ACAN	P16112	p.Gly2291Arg	rs1169742258	missense variant	-	NC_000015.10:g.88860364G>A	TOPMed,gnomAD
ACAN	P16112	p.Lys2294Thr	rs370618858	missense variant	-	NC_000015.10:g.88860374A>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2295Ter	rs1334745093	stop gained	-	NC_000015.10:g.88860376G>T	gnomAD
ACAN	P16112	p.Thr2296Ile	rs531788785	missense variant	-	NC_000015.10:g.88860380C>T	gnomAD
ACAN	P16112	p.Gly2298Arg	rs1292339739	missense variant	-	NC_000015.10:g.88860385G>A	gnomAD
ACAN	P16112	p.Gly2298Ter	COSM6143187	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.88860385G>T	NCI-TCGA Cosmic
ACAN	P16112	p.His2299Arg	rs768801235	missense variant	-	NC_000015.10:g.88860389A>G	ExAC,gnomAD
ACAN	P16112	p.Val2300Ile	rs373674144	missense variant	-	NC_000015.10:g.88860391G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Cys2302Tyr	rs1014276564	missense variant	-	NC_000015.10:g.88860398G>A	gnomAD
ACAN	P16112	p.Leu2303Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88860401T>A	NCI-TCGA
ACAN	P16112	p.Cys2304Ter	rs1489993778	stop gained	-	NC_000015.10:g.88860405C>A	TOPMed
ACAN	P16112	p.Pro2305Leu	rs1209211363	missense variant	-	NC_000015.10:g.88860407C>T	gnomAD
ACAN	P16112	p.Pro2306Thr	rs1429348431	missense variant	-	NC_000015.10:g.88860409C>A	TOPMed,gnomAD
ACAN	P16112	p.Pro2306Ala	rs1429348431	missense variant	-	NC_000015.10:g.88860409C>G	TOPMed,gnomAD
ACAN	P16112	p.Pro2306LeuPheSerTerUnkUnk	rs777726601	frameshift	-	NC_000015.10:g.88860405C>-	NCI-TCGA,NCI-TCGA Cosmic
ACAN	P16112	p.Glu2311Lys	rs765080728	missense variant	-	NC_000015.10:g.88860424G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2311Asp	rs775056039	missense variant	-	NC_000015.10:g.88860426G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.His2312Gln	rs370515602	missense variant	-	NC_000015.10:g.88860429C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asn2314His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88860433A>C	NCI-TCGA
ACAN	P16112	p.Asn2314Asp	rs763610801	missense variant	-	NC_000015.10:g.88860433A>G	ExAC,gnomAD
ACAN	P16112	p.Ile2315Arg	rs1288718134	missense variant	-	NC_000015.10:g.88860437T>G	TOPMed
ACAN	P16112	p.Ile2315Lys	rs1288718134	missense variant	-	NC_000015.10:g.88860437T>A	TOPMed
ACAN	P16112	p.Ile2315Val	rs374577791	missense variant	-	NC_000015.10:g.88860436A>G	ESP,gnomAD
ACAN	P16112	p.Asp2316His	rs1292831388	missense variant	-	NC_000015.10:g.88860439G>C	TOPMed
ACAN	P16112	p.Asp2316Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88860439G>A	NCI-TCGA
ACAN	P16112	p.Gln2317Glu	rs1169003266	missense variant	-	NC_000015.10:g.88871384C>G	gnomAD
ACAN	P16112	p.Gln2317Arg	rs748466186	missense variant	-	NC_000015.10:g.88871385A>G	ExAC,gnomAD
ACAN	P16112	p.Glu2318Gly	rs1279151834	missense variant	-	NC_000015.10:g.88871388A>G	gnomAD
ACAN	P16112	p.Glu2318Lys	rs758341169	missense variant	-	NC_000015.10:g.88871387G>A	ExAC,gnomAD
ACAN	P16112	p.Glu2318Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88871388A>T	NCI-TCGA
ACAN	P16112	p.Val2319Leu	rs1315193711	missense variant	-	NC_000015.10:g.88871390G>T	gnomAD
ACAN	P16112	p.Val2319Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88871391T>G	NCI-TCGA
ACAN	P16112	p.Val2319Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88871390G>A	NCI-TCGA
ACAN	P16112	p.Glu2321Lys	COSM6078091	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88871396G>A	NCI-TCGA Cosmic
ACAN	P16112	p.Glu2322Asp	rs534424968	missense variant	-	NC_000015.10:g.88871401G>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2323Ser	rs1392424747	missense variant	-	NC_000015.10:g.88871402G>A	TOPMed
ACAN	P16112	p.Lys2326Glu	rs745755155	missense variant	-	NC_000015.10:g.88871411A>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2329Asp	rs780006455	missense variant	-	NC_000015.10:g.88871421G>A	ExAC,gnomAD
ACAN	P16112	p.Tyr2332His	rs1555457492	missense variant	-	NC_000015.10:g.88871429T>C	-
ACAN	P16112	p.Tyr2332His	RCV000498568	missense variant	-	NC_000015.10:g.88871429T>C	ClinVar
ACAN	P16112	p.Arg2333His	rs773809580	missense variant	-	NC_000015.10:g.88871433G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2333Cys	rs768563192	missense variant	-	NC_000015.10:g.88871432C>T	ExAC,gnomAD
ACAN	P16112	p.His2334Arg	rs1236331146	missense variant	-	NC_000015.10:g.88871436A>G	gnomAD
ACAN	P16112	p.Pro2336Leu	rs761543122	missense variant	-	NC_000015.10:g.88871442C>T	ExAC,gnomAD
ACAN	P16112	p.Asp2337Asn	rs772883781	missense variant	-	NC_000015.10:g.88871444G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp2337His	rs772883781	missense variant	-	NC_000015.10:g.88871444G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2338Cys	rs1013531754	missense variant	-	NC_000015.10:g.88871447C>T	TOPMed
ACAN	P16112	p.Arg2338His	rs760305263	missense variant	-	NC_000015.10:g.88871448G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2338Ser	rs1013531754	missense variant	-	NC_000015.10:g.88871447C>A	TOPMed
ACAN	P16112	p.Arg2338Leu	rs760305263	missense variant	-	NC_000015.10:g.88871448G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2339Lys	rs1204709768	missense variant	-	NC_000015.10:g.88871450G>A	TOPMed
ACAN	P16112	p.Glu2339Asp	rs754450944	missense variant	-	NC_000015.10:g.88871452G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2339Ala	rs1185453565	missense variant	-	NC_000015.10:g.88871451A>C	TOPMed,gnomAD
ACAN	P16112	p.Thr2340Ala	rs369624139	missense variant	-	NC_000015.10:g.88871453A>G	ESP,TOPMed,gnomAD
ACAN	P16112	p.Thr2340Ser	rs369624139	missense variant	-	NC_000015.10:g.88871453A>T	ESP,TOPMed,gnomAD
ACAN	P16112	p.Val2342Met	rs759812417	missense variant	-	NC_000015.10:g.88871459G>A	ExAC,gnomAD
ACAN	P16112	p.Glu2345Lys	rs985414009	missense variant	-	NC_000015.10:g.88871468G>A	TOPMed,gnomAD
ACAN	P16112	p.Glu2345Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88871468G>C	NCI-TCGA
ACAN	P16112	p.Glu2345Asp	rs765636005	missense variant	-	NC_000015.10:g.88871470G>T	ExAC,gnomAD
ACAN	P16112	p.Arg2346His	rs199999713	missense variant	-	NC_000015.10:g.88871472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2347Leu	rs747182944	missense variant	-	NC_000015.10:g.88871475G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2347Trp	rs1428837585	missense variant	-	NC_000015.10:g.88871474C>T	gnomAD
ACAN	P16112	p.Arg2347Gln	rs747182944	missense variant	-	NC_000015.10:g.88871475G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Cys2348Tyr	rs777789052	missense variant	-	NC_000015.10:g.88871478G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2349Trp	rs376535037	missense variant	-	NC_000015.10:g.88871480C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2349Gln	rs200921049	missense variant	-	NC_000015.10:g.88871481G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.His2354Arg	rs778792706	missense variant	-	NC_000015.10:g.88871496A>G	ExAC,gnomAD
ACAN	P16112	p.His2354Tyr	rs574395127	missense variant	-	NC_000015.10:g.88871495C>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Leu2355Pro	rs1555457513	missense variant	-	NC_000015.10:g.88871499T>C	-
ACAN	P16112	p.Leu2355Pro	RCV000508984	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88871499T>C	ClinVar
ACAN	P16112	p.Val2359Leu	rs150555123	missense variant	-	NC_000015.10:g.88871510G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val2359Ile	rs150555123	missense variant	-	NC_000015.10:g.88871510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Val2359Ile	RCV000514525	missense variant	-	NC_000015.10:g.88871510G>A	ClinVar
ACAN	P16112	p.Thr2360Ala	rs1026663279	missense variant	-	NC_000015.10:g.88871513A>G	TOPMed
ACAN	P16112	p.Pro2361Leu	rs770628724	missense variant	-	NC_000015.10:g.88871517C>T	ExAC,gnomAD
ACAN	P16112	p.Pro2361Arg	rs770628724	missense variant	-	NC_000015.10:g.88871517C>G	ExAC,gnomAD
ACAN	P16112	p.Glu2362Lys	rs765467543	missense variant	-	NC_000015.10:g.88871519G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2363Lys	rs753135658	missense variant	-	NC_000015.10:g.88871522G>A	ExAC,gnomAD
ACAN	P16112	p.Gln2364Ter	rs1555457525	stop gained	-	NC_000015.10:g.88871525C>T	-
ACAN	P16112	p.Gln2364Ter	RCV000508988	nonsense	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88871525C>T	ClinVar
ACAN	P16112	p.Gln2364His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88871527G>T	NCI-TCGA
ACAN	P16112	p.Glu2365Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88871529A>T	NCI-TCGA
ACAN	P16112	p.Ala2371Val	rs762045879	missense variant	-	NC_000015.10:g.88872009C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2371Gly	rs762045879	missense variant	-	NC_000015.10:g.88872009C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp2373Val	rs767547523	missense variant	-	NC_000015.10:g.88872015A>T	ExAC,gnomAD
ACAN	P16112	p.Asp2373Glu	rs3817428	missense variant	-	NC_000015.10:g.88872016C>G	UniProt,dbSNP
ACAN	P16112	p.Asp2373Glu	VAR_080168	missense variant	-	NC_000015.10:g.88872016C>G	UniProt
ACAN	P16112	p.Asp2373Glu	rs3817428	missense variant	-	NC_000015.10:g.88872016C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp2373Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88872014G>A	NCI-TCGA
ACAN	P16112	p.Gln2375Arg	rs1185685829	missense variant	-	NC_000015.10:g.88872021A>G	gnomAD
ACAN	P16112	p.Gln2375Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88872020C>A	NCI-TCGA
ACAN	P16112	p.Trp2376Ter	rs867476949	stop gained	-	NC_000015.10:g.88872024G>A	gnomAD
ACAN	P16112	p.Gly2378Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88872029G>T	NCI-TCGA
ACAN	P16112	p.Gly2378Ser	rs752648715	missense variant	-	NC_000015.10:g.88872029G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp2381His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88872038G>C	NCI-TCGA
ACAN	P16112	p.Asp2381Asn	rs121913568	missense variant	Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG)	NC_000015.10:g.88872038G>A	UniProt,dbSNP
ACAN	P16112	p.Asp2381Asn	VAR_063053	missense variant	Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG)	NC_000015.10:g.88872038G>A	UniProt
ACAN	P16112	p.Asp2381Asn	rs121913568	missense variant	-	NC_000015.10:g.88872038G>A	-
ACAN	P16112	p.Asp2381Asn	RCV000015375	missense variant	Spondyloepimetaphyseal dysplasia, Aggrecan type (SEMDAG)	NC_000015.10:g.88872038G>A	ClinVar
ACAN	P16112	p.Arg2382Lys	rs1192450564	missense variant	-	NC_000015.10:g.88872042G>A	TOPMed
ACAN	P16112	p.Glu2385Lys	rs1477219599	missense variant	-	NC_000015.10:g.88872050G>A	TOPMed,gnomAD
ACAN	P16112	p.Glu2385Asp	rs780745834	missense variant	-	NC_000015.10:g.88872052A>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2385Asp	rs780745834	missense variant	-	NC_000015.10:g.88872052A>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2386Ala	rs374842225	missense variant	-	NC_000015.10:g.88872054G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2386Glu	rs374842225	missense variant	-	NC_000015.10:g.88872054G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp2387Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88872058C>A	NCI-TCGA
ACAN	P16112	p.Arg2389His	rs368833137	missense variant	-	NC_000015.10:g.88872063G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2389Cys	rs1326557887	missense variant	-	NC_000015.10:g.88872062C>T	gnomAD
ACAN	P16112	p.Asp2392Asn	rs1391260911	missense variant	-	NC_000015.10:g.88872071G>A	gnomAD
ACAN	P16112	p.Asp2392Tyr	COSM1375292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88872071G>T	NCI-TCGA Cosmic
ACAN	P16112	p.Asp2392His	COSM4824084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88872071G>C	NCI-TCGA Cosmic
ACAN	P16112	p.His2394Tyr	rs1267846734	missense variant	-	NC_000015.10:g.88872077C>T	TOPMed,gnomAD
ACAN	P16112	p.His2394Arg	rs1340673597	missense variant	-	NC_000015.10:g.88872078A>G	gnomAD
ACAN	P16112	p.His2394Asn	rs1267846734	missense variant	-	NC_000015.10:g.88872077C>A	TOPMed,gnomAD
ACAN	P16112	p.His2394Gln	rs749774270	missense variant	-	NC_000015.10:g.88872079C>A	ExAC,gnomAD
ACAN	P16112	p.Pro2395Arg	rs774731139	missense variant	-	NC_000015.10:g.88872081C>G	ExAC,gnomAD
ACAN	P16112	p.Pro2395Ser	rs571846898	missense variant	-	NC_000015.10:g.88872080C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2395Ala	rs571846898	missense variant	-	NC_000015.10:g.88872080C>G	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2395Thr	rs571846898	missense variant	-	NC_000015.10:g.88872080C>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Met2396Thr	rs762207698	missense variant	-	NC_000015.10:g.88872084T>C	ExAC,gnomAD
ACAN	P16112	p.Met2396Val	rs1198995852	missense variant	-	NC_000015.10:g.88872083A>G	gnomAD
ACAN	P16112	p.Gln2397Pro	rs759731578	missense variant	-	NC_000015.10:g.88872882A>C	ExAC,gnomAD
ACAN	P16112	p.Glu2399Lys	rs764102913	missense variant	-	NC_000015.10:g.88872887G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2399Gln	COSM4844863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88872887G>C	NCI-TCGA Cosmic
ACAN	P16112	p.Asn2400His	rs1328635807	missense variant	-	NC_000015.10:g.88872890A>C	gnomAD
ACAN	P16112	p.Trp2401Ter	rs1555457632	stop gained	-	NC_000015.10:g.88872895G>A	-
ACAN	P16112	p.Trp2401Ter	RCV000508983	nonsense	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88872895G>A	ClinVar
ACAN	P16112	p.Arg2402His	rs535702010	missense variant	-	NC_000015.10:g.88872897G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2402Cys	rs751606366	missense variant	-	NC_000015.10:g.88872896C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2403Arg	rs767230096	missense variant	-	NC_000015.10:g.88872900C>G	ExAC,gnomAD
ACAN	P16112	p.Gln2405Lys	rs758352547	missense variant	-	NC_000015.10:g.88872905C>A	TOPMed,gnomAD
ACAN	P16112	p.Asn2408Lys	rs1435997573	missense variant	-	NC_000015.10:g.88872916C>G	TOPMed
ACAN	P16112	p.Phe2409Ile	rs1420631612	missense variant	-	NC_000015.10:g.88872917T>A	gnomAD
ACAN	P16112	p.Phe2409Val	rs1420631612	missense variant	-	NC_000015.10:g.88872917T>G	gnomAD
ACAN	P16112	p.Phe2410LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88872917T>-	NCI-TCGA
ACAN	P16112	p.Phe2410Ser	rs1331939754	missense variant	-	NC_000015.10:g.88872921T>C	TOPMed
ACAN	P16112	p.Ala2411Asp	rs1179618998	missense variant	-	NC_000015.10:g.88872924C>A	gnomAD
ACAN	P16112	p.Ala2412Ser	rs192568553	missense variant	-	NC_000015.10:g.88872926G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Ala2412Thr	rs192568553	missense variant	-	NC_000015.10:g.88872926G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2413Ala	rs1159706563	missense variant	-	NC_000015.10:g.88872930G>C	TOPMed
ACAN	P16112	p.Asp2415Val	rs879255506	missense variant	-	NC_000015.10:g.88872936A>T	-
ACAN	P16112	p.Asp2415Val	RCV000239390	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88872936A>T	ClinVar
ACAN	P16112	p.Val2417Met	rs267606625	missense variant	-	NC_000015.10:g.88872941G>A	-
ACAN	P16112	p.Val2417Met	RCV000015376	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88872941G>A	ClinVar
ACAN	P16112	p.Val2418Met	rs779794758	missense variant	-	NC_000015.10:g.88872944G>A	ExAC,gnomAD
ACAN	P16112	p.Ile2420Phe	rs1422091307	missense variant	-	NC_000015.10:g.88872950A>T	TOPMed
ACAN	P16112	p.His2422Gln	rs373470699	missense variant	-	NC_000015.10:g.88872958C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.His2422Gln	rs373470699	missense variant	-	NC_000015.10:g.88872958C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.His2422Ter	RCV000599395	frameshift	-	NC_000015.10:g.88872957_88872967del	ClinVar
ACAN	P16112	p.His2422Arg	rs754538010	missense variant	-	NC_000015.10:g.88872957A>G	ExAC,gnomAD
ACAN	P16112	p.Glu2423Lys	rs183636867	missense variant	-	NC_000015.10:g.88872959G>A	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Glu2423Ala	rs772428950	missense variant	-	NC_000015.10:g.88872960A>C	ExAC,gnomAD
ACAN	P16112	p.Gly2425Ser	rs778025458	missense variant	-	NC_000015.10:g.88872965G>A	ExAC,gnomAD
ACAN	P16112	p.Glu2426Lys	rs201154137	missense variant	-	NC_000015.10:g.88872968G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Asp2429Gly	rs1262209687	missense variant	-	NC_000015.10:g.88872978A>G	TOPMed
ACAN	P16112	p.Asp2429His	rs777044543	missense variant	-	NC_000015.10:g.88872977G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2431Arg	rs1008765397	missense variant	-	NC_000015.10:g.88872984C>G	TOPMed
ACAN	P16112	p.Pro2431Leu	COSM3505213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88872984C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Cys2432Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88872987G>T	NCI-TCGA
ACAN	P16112	p.Asn2433Lys	rs1244031237	missense variant	-	NC_000015.10:g.88872991T>G	TOPMed,gnomAD
ACAN	P16112	p.Leu2436Phe	rs1481552274	missense variant	-	NC_000015.10:g.88872998C>T	gnomAD
ACAN	P16112	p.Thr2439Met	rs759677135	missense variant	-	NC_000015.10:g.88873008C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Lys2441Glu	rs1285366415	missense variant	-	NC_000015.10:g.88873013A>G	TOPMed
ACAN	P16112	p.Thr2444Ile	rs770216280	missense variant	-	NC_000015.10:g.88873023C>T	gnomAD
ACAN	P16112	p.Val2445Leu	rs1411069453	missense variant	-	NC_000015.10:g.88873025G>T	gnomAD
ACAN	P16112	p.Val2445Ala	rs775742882	missense variant	-	NC_000015.10:g.88873842T>C	ExAC,gnomAD
ACAN	P16112	p.Ala2446Val	rs543497679	missense variant	-	NC_000015.10:g.88873845C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2448Arg	rs202059945	missense variant	-	NC_000015.10:g.88873850G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2448Arg	rs202059945	missense variant	-	NC_000015.10:g.88873850G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Glu2449Gly	rs766163010	missense variant	-	NC_000015.10:g.88873854A>G	ExAC,gnomAD
ACAN	P16112	p.Pro2450His	rs1296754377	missense variant	-	NC_000015.10:g.88873857C>A	TOPMed,gnomAD
ACAN	P16112	p.Pro2450Thr	rs375041472	missense variant	-	NC_000015.10:g.88873856C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2450Ser	rs375041472	missense variant	-	NC_000015.10:g.88873856C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2450Leu	rs1296754377	missense variant	-	NC_000015.10:g.88873857C>T	TOPMed,gnomAD
ACAN	P16112	p.Pro2451Leu	rs764690562	missense variant	-	NC_000015.10:g.88873860C>T	ExAC,gnomAD
ACAN	P16112	p.Pro2451LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.88873856C>-	NCI-TCGA
ACAN	P16112	p.Val2453Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88873866T>C	NCI-TCGA
ACAN	P16112	p.His2455Arg	rs757978070	missense variant	-	NC_000015.10:g.88873872A>G	ExAC,gnomAD
ACAN	P16112	p.His2455Tyr	rs752175506	missense variant	-	NC_000015.10:g.88873871C>T	ExAC,gnomAD
ACAN	P16112	p.Ala2456Ser	rs944371417	missense variant	-	NC_000015.10:g.88873874G>T	gnomAD
ACAN	P16112	p.Arg2457Thr	rs764496641	missense variant	-	NC_000015.10:g.88873878G>C	ExAC,gnomAD
ACAN	P16112	p.Arg2457Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88873879G>T	NCI-TCGA
ACAN	P16112	p.Arg2457Gly	COSM6078089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88873877A>G	NCI-TCGA Cosmic
ACAN	P16112	p.Thr2458Ile	rs752177184	missense variant	-	NC_000015.10:g.88873881C>T	ExAC,gnomAD
ACAN	P16112	p.Thr2458Ser	rs752177184	missense variant	-	NC_000015.10:g.88873881C>G	ExAC,gnomAD
ACAN	P16112	p.Gly2460Arg	rs200180285	missense variant	-	NC_000015.10:g.88873886G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2460Glu	rs1247980914	missense variant	-	NC_000015.10:g.88873887G>A	gnomAD
ACAN	P16112	p.Gly2460Arg	rs200180285	missense variant	-	NC_000015.10:g.88873886G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Lys2463Thr	rs780471356	missense variant	-	NC_000015.10:g.88873896A>C	ExAC,gnomAD
ACAN	P16112	p.Asp2464Glu	rs1414187913	missense variant	-	NC_000015.10:g.88873900C>G	gnomAD
ACAN	P16112	p.Arg2465Gly	rs766292185	missense variant	-	NC_000015.10:g.88873901C>G	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2465Pro	rs529444135	missense variant	-	NC_000015.10:g.88873902G>C	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2465Gln	rs529444135	missense variant	-	NC_000015.10:g.88873902G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2465Leu	rs529444135	missense variant	-	NC_000015.10:g.88873902G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2465Trp	rs766292185	missense variant	-	NC_000015.10:g.88873901C>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Tyr2466Ter	RCV000731280	nonsense	-	NC_000015.10:g.88873906T>G	ClinVar
ACAN	P16112	p.Glu2467Asp	rs1455683103	missense variant	-	NC_000015.10:g.88873909G>T	TOPMed,gnomAD
ACAN	P16112	p.Val2472Glu	rs1395160929	missense variant	-	NC_000015.10:g.88873923T>A	gnomAD
ACAN	P16112	p.Arg2473Trp	rs149099819	missense variant	-	NC_000015.10:g.88873925C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2473Gln	rs755055654	missense variant	-	NC_000015.10:g.88873926G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2473Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88873926G>T	NCI-TCGA
ACAN	P16112	p.Thr2477Pro	rs1326588949	missense variant	-	NC_000015.10:g.88873937A>C	gnomAD
ACAN	P16112	p.Thr2477Ile	rs1207580644	missense variant	-	NC_000015.10:g.88873938C>T	gnomAD
ACAN	P16112	p.Glu2478Gln	COSM3794500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88873940G>C	NCI-TCGA Cosmic
ACAN	P16112	p.Gly2479Val	rs775273821	missense variant	-	NC_000015.10:g.88873944G>T	ExAC,gnomAD
ACAN	P16112	p.Gly2479Arg	rs1273204981	missense variant	-	NC_000015.10:g.88873943G>C	gnomAD
ACAN	P16112	p.Val2481Leu	rs762367567	missense variant	-	NC_000015.10:g.88873949G>C	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln2482His	rs1245404838	missense variant	-	NC_000015.10:g.88873954G>C	gnomAD
ACAN	P16112	p.Arg2483Cys	rs781181702	missense variant	-	NC_000015.10:g.88873955C>T	ExAC,gnomAD
ACAN	P16112	p.Arg2483His	rs368796568	missense variant	-	NC_000015.10:g.88873956G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2486His	rs762433371	missense variant	-	NC_000015.10:g.88873965C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Thr2487Pro	rs1395229720	missense variant	-	NC_000015.10:g.88873967A>C	gnomAD
ACAN	P16112	p.Arg2489Gln	rs200868527	missense variant	-	NC_000015.10:g.88873974G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2489Trp	COSM86637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88873973C>T	NCI-TCGA Cosmic
ACAN	P16112	p.Pro2492His	rs1351551297	missense variant	-	NC_000015.10:g.88873983C>A	TOPMed
ACAN	P16112	p.Pro2492Ser	rs754092324	missense variant	-	NC_000015.10:g.88873982C>T	ExAC,gnomAD
ACAN	P16112	p.Ser2493Arg	rs754952252	missense variant	-	NC_000015.10:g.88873987C>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gly2494Arg	rs746885216	missense variant	-	NC_000015.10:g.88873988G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.His2495Arg	rs201983356	missense variant	-	NC_000015.10:g.88873992A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Trp2496Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.88873996G>A	NCI-TCGA
ACAN	P16112	p.Glu2498Lys	rs781159162	missense variant	-	NC_000015.10:g.88874000G>A	ExAC,gnomAD
ACAN	P16112	p.Pro2499Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88874004C>T	NCI-TCGA
ACAN	P16112	p.Pro2499Ala	rs745652554	missense variant	-	NC_000015.10:g.88874003C>G	ExAC,gnomAD
ACAN	P16112	p.Gln2500Glu	rs367553476	missense variant	-	NC_000015.10:g.88874006C>G	ESP
ACAN	P16112	p.Gln2500Arg	rs1126823	missense variant	-	NC_000015.10:g.88874007A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Gln2500Ter	rs367553476	stop gained	-	NC_000015.10:g.88874006C>T	ESP
ACAN	P16112	p.Gln2500His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88874008G>T	NCI-TCGA
ACAN	P16112	p.Thr2502Ile	rs1482202192	missense variant	-	NC_000015.10:g.88874013C>T	gnomAD
ACAN	P16112	p.Cys2503Phe	rs1181728986	missense variant	-	NC_000015.10:g.88874016G>T	gnomAD
ACAN	P16112	p.Thr2504Pro	rs774940617	missense variant	-	NC_000015.10:g.88874018A>C	ExAC,gnomAD
ACAN	P16112	p.Thr2504Ile	rs1473797808	missense variant	-	NC_000015.10:g.88874019C>T	gnomAD
ACAN	P16112	p.Asp2505Asn	rs1366599837	missense variant	-	NC_000015.10:g.88874021G>A	TOPMed
ACAN	P16112	p.Asp2505Glu	rs1161491813	missense variant	-	NC_000015.10:g.88874023C>A	gnomAD
ACAN	P16112	p.Pro2506Ser	rs201449366	missense variant	-	NC_000015.10:g.88874024C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2506Leu	rs1387104778	missense variant	-	NC_000015.10:g.88874405C>T	gnomAD
ACAN	P16112	p.Thr2507Ile	rs1434923438	missense variant	-	NC_000015.10:g.88874408C>T	TOPMed,gnomAD
ACAN	P16112	p.Thr2507Ala	rs1480458370	missense variant	-	NC_000015.10:g.88874407A>G	TOPMed
ACAN	P16112	p.Thr2508Ile	rs1302490330	missense variant	-	NC_000015.10:g.88874411C>T	gnomAD
ACAN	P16112	p.Arg2511His	rs746554508	missense variant	-	NC_000015.10:g.88874420G>A	ExAC,gnomAD
ACAN	P16112	p.Arg2511Cys	rs571382991	missense variant	-	NC_000015.10:g.88874419C>T	1000Genomes,ExAC,gnomAD
ACAN	P16112	p.Arg2512Lys	rs1266256724	missense variant	-	NC_000015.10:g.88874423G>A	gnomAD
ACAN	P16112	p.Lys2515Thr	rs771450196	missense variant	-	NC_000015.10:g.88874432A>C	ExAC,gnomAD
ACAN	P16112	p.Arg2516Leu	rs759942986	missense variant	-	NC_000015.10:g.88874435G>T	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2516Gln	rs759942986	missense variant	-	NC_000015.10:g.88874435G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2516Trp	rs538486886	missense variant	-	NC_000015.10:g.88874434C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2519Gln	rs377398069	missense variant	-	NC_000015.10:g.88874444G>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2519Trp	rs1197846362	missense variant	-	NC_000015.10:g.88874443C>T	gnomAD
ACAN	P16112	p.Arg2519Pro	rs377398069	missense variant	-	NC_000015.10:g.88874444G>C	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.His2520Arg	rs775633191	missense variant	-	NC_000015.10:g.88874447A>G	ExAC,gnomAD
ACAN	P16112	p.Pro2521Ser	rs1156317911	missense variant	-	NC_000015.10:g.88874449C>T	gnomAD
ACAN	P16112	p.Arg2522Gln	rs763186710	missense variant	-	NC_000015.10:g.88874453G>A	ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2522Trp	rs1410577378	missense variant	-	NC_000015.10:g.88874452C>T	TOPMed,gnomAD
ACAN	P16112	p.Arg2523Ser	rs764118916	missense variant	-	NC_000015.10:g.88874457G>T	ExAC,gnomAD
ACAN	P16112	p.Arg2523Gly	rs983310631	missense variant	-	NC_000015.10:g.88874455A>G	TOPMed
ACAN	P16112	p.Ser2524Arg	rs1373588215	missense variant	-	NC_000015.10:g.88874460C>G	gnomAD
ACAN	P16112	p.Ser2524Cys	rs1393380279	missense variant	-	NC_000015.10:g.88874458A>T	gnomAD
ACAN	P16112	p.Ser2524Gly	rs1393380279	missense variant	-	NC_000015.10:g.88874458A>G	gnomAD
ACAN	P16112	p.Arg2525Ser	rs368681276	missense variant	-	NC_000015.10:g.88874461C>A	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2525Cys	rs368681276	missense variant	-	NC_000015.10:g.88874461C>T	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2525His	rs186576211	missense variant	-	NC_000015.10:g.88874462G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Arg2525Gly	rs368681276	missense variant	-	NC_000015.10:g.88874461C>G	ESP,ExAC,TOPMed,gnomAD
ACAN	P16112	p.Pro2526Leu	rs1351354723	missense variant	-	NC_000015.10:g.88874465C>T	gnomAD
ACAN	P16112	p.Ser2527Asn	rs1286606798	missense variant	-	NC_000015.10:g.88874468G>A	gnomAD
ACAN	P16112	p.Ala2529Asp	rs1328562026	missense variant	-	NC_000015.10:g.88874474C>A	gnomAD
ACAN	P16112	p.Ala2529Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.88874473G>A	NCI-TCGA
PDGFRA	P16234	p.Ser4Phe	RCV000545506	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258779C>T	ClinVar
PDGFRA	P16234	p.Ser4Cys	RCV000633792	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258779C>G	ClinVar
PDGFRA	P16234	p.Ser4Tyr	rs138929755	missense variant	-	NC_000004.12:g.54258779C>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser4Phe	rs138929755	missense variant	-	NC_000004.12:g.54258779C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser4Cys	rs138929755	missense variant	-	NC_000004.12:g.54258779C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.His5Leu	rs776018656	missense variant	-	NC_000004.12:g.54258782A>T	ExAC,gnomAD
PDGFRA	P16234	p.Pro6Leu	RCV000234684	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258785C>T	ClinVar
PDGFRA	P16234	p.Pro6Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54258785C>A	NCI-TCGA
PDGFRA	P16234	p.Pro6Thr	rs759019262	missense variant	-	NC_000004.12:g.54258784C>A	ExAC,gnomAD
PDGFRA	P16234	p.Pro6Leu	rs754092062	missense variant	-	NC_000004.12:g.54258785C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Pro6Ala	rs759019262	missense variant	-	NC_000004.12:g.54258784C>G	ExAC,gnomAD
PDGFRA	P16234	p.Ala7Glu	RCV000633759	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258788C>A	ClinVar
PDGFRA	P16234	p.Ala7Val	RCV000232147	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258788C>T	ClinVar
PDGFRA	P16234	p.Ala7Glu	rs764472307	missense variant	-	NC_000004.12:g.54258788C>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala7Thr	COSM4904481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54258787G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ala7Val	rs764472307	missense variant	-	NC_000004.12:g.54258788C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala7Ser	rs1467619698	missense variant	-	NC_000004.12:g.54258787G>T	gnomAD
PDGFRA	P16234	p.Val10Ile	rs1060501519	missense variant	-	NC_000004.12:g.54258796G>A	-
PDGFRA	P16234	p.Val10Ile	RCV000460861	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54258796G>A	ClinVar
PDGFRA	P16234	p.Val10Asp	rs781404006	missense variant	-	NC_000004.12:g.54258797T>A	ExAC,gnomAD
PDGFRA	P16234	p.Gly12Ala	rs1440200916	missense variant	-	NC_000004.12:g.54258803G>C	TOPMed,gnomAD
PDGFRA	P16234	p.Gly12Val	rs1440200916	missense variant	-	NC_000004.12:g.54258803G>T	TOPMed,gnomAD
PDGFRA	P16234	p.Cys13Tyr	rs1227672940	missense variant	-	NC_000004.12:g.54258806G>A	gnomAD
PDGFRA	P16234	p.Leu15Pro	rs1286350038	missense variant	-	NC_000004.12:g.54258812T>C	gnomAD
PDGFRA	P16234	p.Thr16Ser	RCV000121786	missense variant	-	NC_000004.12:g.54258814A>T	ClinVar
PDGFRA	P16234	p.Thr16Ser	rs587778596	missense variant	-	NC_000004.12:g.54258814A>T	TOPMed,gnomAD
PDGFRA	P16234	p.Gly17Val	rs766600687	missense variant	-	NC_000004.12:g.54261095G>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gly17Val	RCV000540572	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261095G>T	ClinVar
PDGFRA	P16234	p.Ser19Ile	COSM283922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261101G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Leu20Val	rs1553902342	missense variant	-	NC_000004.12:g.54261103C>G	-
PDGFRA	P16234	p.Leu20Val	RCV000633814	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261103C>G	ClinVar
PDGFRA	P16234	p.Ile21Thr	rs1334714267	missense variant	-	NC_000004.12:g.54261107T>C	TOPMed
PDGFRA	P16234	p.Leu22Phe	RCV000543350	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261109C>T	ClinVar
PDGFRA	P16234	p.Leu22Phe	rs975510328	missense variant	-	NC_000004.12:g.54261109C>T	TOPMed
PDGFRA	P16234	p.Cys23Gly	rs561082994	missense variant	-	NC_000004.12:g.54261112T>G	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Ser26Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261121T>A	NCI-TCGA
PDGFRA	P16234	p.Ser26Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54261122C>G	NCI-TCGA
PDGFRA	P16234	p.Leu27Phe	rs529666430	missense variant	-	NC_000004.12:g.54261126A>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu27Ser	rs758425314	missense variant	-	NC_000004.12:g.54261125T>C	ExAC,gnomAD
PDGFRA	P16234	p.Pro28His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261128C>A	NCI-TCGA
PDGFRA	P16234	p.Pro28Arg	rs1377805967	missense variant	-	NC_000004.12:g.54261128C>G	TOPMed
PDGFRA	P16234	p.Ser29Phe	RCV000121792	missense variant	-	NC_000004.12:g.54261131C>T	ClinVar
PDGFRA	P16234	p.Ser29Phe	rs587778600	missense variant	-	NC_000004.12:g.54261131C>T	ExAC,gnomAD
PDGFRA	P16234	p.Ser29Pro	rs746846673	missense variant	-	NC_000004.12:g.54261130T>C	ExAC,gnomAD
PDGFRA	P16234	p.Ile30Val	RCV000472004	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261133A>G	ClinVar
PDGFRA	P16234	p.Ile30Val	rs780747709	missense variant	-	NC_000004.12:g.54261133A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile30Thr	rs1437048036	missense variant	-	NC_000004.12:g.54261134T>C	TOPMed,gnomAD
PDGFRA	P16234	p.Pro32Thr	RCV000466810	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261139C>A	ClinVar
PDGFRA	P16234	p.Pro32Thr	rs936241714	missense variant	-	NC_000004.12:g.54261139C>A	TOPMed
PDGFRA	P16234	p.Asn33Tyr	RCV000458123	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261142A>T	ClinVar
PDGFRA	P16234	p.Asn33Tyr	rs200979664	missense variant	-	NC_000004.12:g.54261142A>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu34Lys	COSM3917923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261145G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asn35Asp	RCV000470819	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261148A>G	ClinVar
PDGFRA	P16234	p.Asn35Asp	rs769386190	missense variant	-	NC_000004.12:g.54261148A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys37Asn	rs1553902353	missense variant	-	NC_000004.12:g.54261156G>T	-
PDGFRA	P16234	p.Lys37Asn	RCV000633808	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261156G>T	ClinVar
PDGFRA	P16234	p.Val38Ile	RCV000706455	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261157G>A	ClinVar
PDGFRA	P16234	p.Val39Met	rs1553902356	missense variant	-	NC_000004.12:g.54261160G>A	-
PDGFRA	P16234	p.Val39Met	RCV000633757	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261160G>A	ClinVar
PDGFRA	P16234	p.Gln40Arg	rs769214355	missense variant	-	NC_000004.12:g.54261164A>G	ExAC,gnomAD
PDGFRA	P16234	p.Leu41Pro	RCV000633798	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261167T>C	ClinVar
PDGFRA	P16234	p.Leu41Pro	rs1341010273	missense variant	-	NC_000004.12:g.54261167T>C	gnomAD
PDGFRA	P16234	p.Leu41Gln	rs1341010273	missense variant	-	NC_000004.12:g.54261167T>A	gnomAD
PDGFRA	P16234	p.Ser44IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54261166_54261167insTGAATTCAATCTGTGATGTG	NCI-TCGA
PDGFRA	P16234	p.Ser44Phe	rs774911799	missense variant	-	NC_000004.12:g.54261176C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser44Cys	rs774911799	missense variant	-	NC_000004.12:g.54261176C>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Phe45Leu	RCV000474628	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261178T>C	ClinVar
PDGFRA	P16234	p.Phe45Leu	rs149408217	missense variant	-	NC_000004.12:g.54261178T>C	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser46Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261182C>A	NCI-TCGA
PDGFRA	P16234	p.Arg48Ser	RCV000633805	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261189A>C	ClinVar
PDGFRA	P16234	p.Arg48Ser	rs1553902375	missense variant	-	NC_000004.12:g.54261189A>C	-
PDGFRA	P16234	p.Phe50Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261194T>G	NCI-TCGA
PDGFRA	P16234	p.Ser53Asn	rs1190592187	missense variant	-	NC_000004.12:g.54261203G>A	gnomAD
PDGFRA	P16234	p.Glu54Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261206A>T	NCI-TCGA
PDGFRA	P16234	p.Val55Leu	RCV000633782	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261208G>T	ClinVar
PDGFRA	P16234	p.Val55Leu	rs773412686	missense variant	-	NC_000004.12:g.54261208G>T	ExAC,gnomAD
PDGFRA	P16234	p.Val55Met	rs773412686	missense variant	-	NC_000004.12:g.54261208G>A	ExAC,gnomAD
PDGFRA	P16234	p.Ser56Thr	RCV000533882	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261212G>C	ClinVar
PDGFRA	P16234	p.Ser56Thr	rs587778601	missense variant	-	NC_000004.12:g.54261212G>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Trp57Arg	COSM1056039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261214T>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gln58Arg	rs1186935022	missense variant	-	NC_000004.12:g.54261218A>G	gnomAD
PDGFRA	P16234	p.Tyr59Asn	COSM75894	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261220T>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu63Lys	COSM3604490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261232G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu65Val	rs1163869258	missense variant	-	NC_000004.12:g.54261239A>T	gnomAD
PDGFRA	P16234	p.Ser66Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261243C>A	NCI-TCGA
PDGFRA	P16234	p.Ser66Arg	rs143783500	missense variant	-	NC_000004.12:g.54261241A>C	ESP,ExAC
PDGFRA	P16234	p.Asp68Asn	RCV000467799	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261247G>A	ClinVar
PDGFRA	P16234	p.Asp68Asn	rs1060501504	missense variant	-	NC_000004.12:g.54261247G>A	gnomAD
PDGFRA	P16234	p.Val69Met	RCV000633844	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261250G>A	ClinVar
PDGFRA	P16234	p.Val69Met	rs1363843815	missense variant	-	NC_000004.12:g.54261250G>A	gnomAD
PDGFRA	P16234	p.Val69Ala	rs757101121	missense variant	-	NC_000004.12:g.54261251T>C	ExAC,gnomAD
PDGFRA	P16234	p.Ile71Phe	rs1553902408	missense variant	-	NC_000004.12:g.54261256A>T	-
PDGFRA	P16234	p.Ile71Phe	RCV000633776	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261256A>T	ClinVar
PDGFRA	P16234	p.Ile71Met	COSM6100290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261258C>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg72Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261260G>A	NCI-TCGA
PDGFRA	P16234	p.Glu75Gln	rs1285564229	missense variant	-	NC_000004.12:g.54261268G>C	gnomAD
PDGFRA	P16234	p.Glu75Gln	RCV000552021	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261268G>C	ClinVar
PDGFRA	P16234	p.Glu75Gly	rs1379511323	missense variant	-	NC_000004.12:g.54261269A>G	gnomAD
PDGFRA	P16234	p.Asn76Ser	rs1553902415	missense variant	-	NC_000004.12:g.54261272A>G	-
PDGFRA	P16234	p.Asn76Ser	RCV000633843	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261272A>G	ClinVar
PDGFRA	P16234	p.Asn77Ser	RCV000633779	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261275A>G	ClinVar
PDGFRA	P16234	p.Asn77Ser	rs1553902417	missense variant	-	NC_000004.12:g.54261275A>G	-
PDGFRA	P16234	p.Ser78Asn	RCV000704776	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261278G>A	ClinVar
PDGFRA	P16234	p.Gly79Asp	RCV000121794	missense variant	-	NC_000004.12:g.54261281G>A	ClinVar
PDGFRA	P16234	p.Gly79Ser	RCV000633800	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261280G>A	ClinVar
PDGFRA	P16234	p.Gly79Asp	rs36035373	missense variant	-	NC_000004.12:g.54261281G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gly79Ser	rs1333247214	missense variant	-	NC_000004.12:g.54261280G>A	gnomAD
PDGFRA	P16234	p.Gly79Asp	rs36035373	missense variant	-	NC_000004.12:g.54261281G>A	UniProt,dbSNP
PDGFRA	P16234	p.Gly79Asp	VAR_042032	missense variant	-	NC_000004.12:g.54261281G>A	UniProt
PDGFRA	P16234	p.Val82Met	rs768193197	missense variant	-	NC_000004.12:g.54261289G>A	ExAC,gnomAD
PDGFRA	P16234	p.Thr83Met	rs779332376	missense variant	-	NC_000004.12:g.54261293C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr83Met	RCV000474089	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261293C>T	ClinVar
PDGFRA	P16234	p.Leu85Met	rs1354007102	missense variant	-	NC_000004.12:g.54261298T>A	TOPMed
PDGFRA	P16234	p.Glu86Ala	RCV000633717	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261302A>C	ClinVar
PDGFRA	P16234	p.Glu86Ala	rs773726970	missense variant	-	NC_000004.12:g.54261302A>C	ExAC,gnomAD
PDGFRA	P16234	p.Val87Ala	rs1473497171	missense variant	-	NC_000004.12:g.54261305T>C	gnomAD
PDGFRA	P16234	p.Ser88Thr	RCV000475902	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261308G>C	ClinVar
PDGFRA	P16234	p.Ser88Thr	rs1060501515	missense variant	-	NC_000004.12:g.54261308G>C	-
PDGFRA	P16234	p.Ser91Leu	RCV000539821	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261317C>T	ClinVar
PDGFRA	P16234	p.Ser91Leu	rs538480165	missense variant	-	NC_000004.12:g.54261317C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala92Val	RCV000633716	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261320C>T	ClinVar
PDGFRA	P16234	p.Ala92Val	rs759729258	missense variant	-	NC_000004.12:g.54261320C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala93Val	rs752669159	missense variant	-	NC_000004.12:g.54261323C>T	ExAC,gnomAD
PDGFRA	P16234	p.His94Gln	RCV000633823	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261327C>A	ClinVar
PDGFRA	P16234	p.His94Tyr	rs1418656533	missense variant	-	NC_000004.12:g.54261325C>T	TOPMed
PDGFRA	P16234	p.His94Gln	rs750282565	missense variant	-	NC_000004.12:g.54261327C>A	ExAC,gnomAD
PDGFRA	P16234	p.Thr95Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261329C>T	NCI-TCGA
PDGFRA	P16234	p.Leu97Met	rs1451975443	missense variant	-	NC_000004.12:g.54261334T>A	TOPMed,gnomAD
PDGFRA	P16234	p.Leu97Ter	rs1313263168	stop gained	-	NC_000004.12:g.54261335T>A	TOPMed,gnomAD
PDGFRA	P16234	p.Tyr98Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54261339C>A	NCI-TCGA
PDGFRA	P16234	p.Thr99Ala	rs1265201159	missense variant	-	NC_000004.12:g.54261340A>G	TOPMed
PDGFRA	P16234	p.Cys100Ter	rs1367611443	stop gained	-	NC_000004.12:g.54261345C>A	gnomAD
PDGFRA	P16234	p.Tyr101Cys	rs779726497	missense variant	-	NC_000004.12:g.54261347A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn103Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261354C>G	NCI-TCGA
PDGFRA	P16234	p.Asn103Asp	rs1222128776	missense variant	-	NC_000004.12:g.54261352A>G	gnomAD
PDGFRA	P16234	p.Asn103His	rs1222128776	missense variant	-	NC_000004.12:g.54261352A>C	gnomAD
PDGFRA	P16234	p.Asn103Ser	rs1004486437	missense variant	-	NC_000004.12:g.54261353A>G	TOPMed
PDGFRA	P16234	p.Thr105Pro	rs1281779836	missense variant	-	NC_000004.12:g.54261358A>C	TOPMed
PDGFRA	P16234	p.Thr105Ile	rs753461949	missense variant	-	NC_000004.12:g.54261359C>T	ExAC,gnomAD
PDGFRA	P16234	p.Gln106Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54261361C>T	NCI-TCGA
PDGFRA	P16234	p.Glu108Lys	RCV000232670	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261367G>A	ClinVar
PDGFRA	P16234	p.Glu108Lys	rs878854829	missense variant	-	NC_000004.12:g.54261367G>A	TOPMed,gnomAD
PDGFRA	P16234	p.Glu109Asp	COSM1220050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261372G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asn110Ser	rs1230872708	missense variant	-	NC_000004.12:g.54261374A>G	TOPMed
PDGFRA	P16234	p.Glu111Gly	rs1255071376	missense variant	-	NC_000004.12:g.54261377A>G	gnomAD
PDGFRA	P16234	p.Glu113Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54261384A>C	NCI-TCGA
PDGFRA	P16234	p.Gly114Ala	RCV000703510	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54261386G>C	ClinVar
PDGFRA	P16234	p.Pro122Thr	COSM6100289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54261409C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Pro124Leu	RCV000633834	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263670C>T	ClinVar
PDGFRA	P16234	p.Pro124Leu	rs918962982	missense variant	-	NC_000004.12:g.54263670C>T	TOPMed
PDGFRA	P16234	p.Asp125Val	rs1167372221	missense variant	-	NC_000004.12:g.54263673A>T	TOPMed
PDGFRA	P16234	p.Asp125His	rs762935664	missense variant	-	NC_000004.12:g.54263672G>C	ExAC,gnomAD
PDGFRA	P16234	p.Ala127Gly	RCV000227624	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263679C>G	ClinVar
PDGFRA	P16234	p.Ala127Gly	rs759705682	missense variant	-	NC_000004.12:g.54263679C>G	-
PDGFRA	P16234	p.Val129Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54263685T>C	NCI-TCGA
PDGFRA	P16234	p.Thr134Met	RCV000468425	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263700C>T	ClinVar
PDGFRA	P16234	p.Thr134Met	rs373126818	missense variant	-	NC_000004.12:g.54263700C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp135Glu	rs766197882	missense variant	-	NC_000004.12:g.54263704T>A	ExAC,gnomAD
PDGFRA	P16234	p.Asp135Glu	rs766197882	missense variant	-	NC_000004.12:g.54263704T>G	ExAC,gnomAD
PDGFRA	P16234	p.Tyr136Ser	rs1326143004	missense variant	-	NC_000004.12:g.54263706A>C	gnomAD
PDGFRA	P16234	p.Leu137Ile	rs1181941483	missense variant	-	NC_000004.12:g.54263708T>A	TOPMed
PDGFRA	P16234	p.Val140Met	RCV000633789	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263717G>A	ClinVar
PDGFRA	P16234	p.Val140Met	rs574683248	missense variant	-	NC_000004.12:g.54263717G>A	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Val140Leu	rs574683248	missense variant	-	NC_000004.12:g.54263717G>T	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Glu141Asp	RCV000633833	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263722G>T	ClinVar
PDGFRA	P16234	p.Glu141Ala	rs757790893	missense variant	-	NC_000004.12:g.54263721A>C	ExAC,gnomAD
PDGFRA	P16234	p.Glu141Lys	COSM4125125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263720G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu141Asp	rs1187957560	missense variant	-	NC_000004.12:g.54263722G>T	TOPMed
PDGFRA	P16234	p.Asp142Glu	rs201614191	missense variant	-	NC_000004.12:g.54263725T>G	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Asp142Val	rs1337241636	missense variant	-	NC_000004.12:g.54263724A>T	gnomAD
PDGFRA	P16234	p.Asp142Gly	rs1337241636	missense variant	-	NC_000004.12:g.54263724A>G	gnomAD
PDGFRA	P16234	p.Asp143Glu	RCV000526325	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263728T>G	ClinVar
PDGFRA	P16234	p.Asp143Glu	rs1553902692	missense variant	-	NC_000004.12:g.54263728T>G	-
PDGFRA	P16234	p.Asp144Tyr	rs376497743	missense variant	-	NC_000004.12:g.54263729G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp144Gly	rs770117588	missense variant	-	NC_000004.12:g.54263730A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp144Val	rs770117588	missense variant	-	NC_000004.12:g.54263730A>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser145Thr	RCV000695356	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263732T>A	ClinVar
PDGFRA	P16234	p.Ala146Asp	RCV000534210	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263736C>A	ClinVar
PDGFRA	P16234	p.Ala146Pro	rs1191201033	missense variant	-	NC_000004.12:g.54263735G>C	gnomAD
PDGFRA	P16234	p.Ala146Asp	rs1249349361	missense variant	-	NC_000004.12:g.54263736C>A	gnomAD
PDGFRA	P16234	p.Ala146Val	rs1249349361	missense variant	-	NC_000004.12:g.54263736C>T	gnomAD
PDGFRA	P16234	p.Ile147Val	rs553864636	missense variant	-	NC_000004.12:g.54263738A>G	1000Genomes,gnomAD
PDGFRA	P16234	p.Cys150Arg	RCV000633765	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263747T>C	ClinVar
PDGFRA	P16234	p.Cys150Arg	rs1173137221	missense variant	-	NC_000004.12:g.54263747T>C	gnomAD
PDGFRA	P16234	p.Arg151His	rs1060501501	missense variant	-	NC_000004.12:g.54263751G>A	-
PDGFRA	P16234	p.Arg151His	RCV000475355	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263751G>A	ClinVar
PDGFRA	P16234	p.Arg151Cys	rs1449637193	missense variant	-	NC_000004.12:g.54263750C>T	gnomAD
PDGFRA	P16234	p.Thr152Ile	RCV000633770	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263754C>T	ClinVar
PDGFRA	P16234	p.Thr152Ile	rs749430582	missense variant	-	NC_000004.12:g.54263754C>T	ExAC,gnomAD
PDGFRA	P16234	p.Thr152Ala	rs775558761	missense variant	-	NC_000004.12:g.54263753A>G	ExAC,gnomAD
PDGFRA	P16234	p.Asp154Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54263759G>T	NCI-TCGA
PDGFRA	P16234	p.Asp154Gly	rs948286384	missense variant	-	NC_000004.12:g.54263760A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Pro155Leu	COSM3604493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263763C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu156Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54263767G>T	NCI-TCGA
PDGFRA	P16234	p.Glu156Lys	RCV000470048	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263765G>A	ClinVar
PDGFRA	P16234	p.Glu156Lys	rs760631068	missense variant	-	NC_000004.12:g.54263765G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr157Ile	RCV000551511	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263769C>T	ClinVar
PDGFRA	P16234	p.Thr157Ile	rs1553902717	missense variant	-	NC_000004.12:g.54263769C>T	-
PDGFRA	P16234	p.Leu161Val	COSM3604494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263780T>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.His162Arg	rs916537173	missense variant	-	NC_000004.12:g.54263784A>G	TOPMed
PDGFRA	P16234	p.Asn163Lys	RCV000527534	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263788C>G	ClinVar
PDGFRA	P16234	p.Asn163Ser	RCV000698378	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263787A>G	ClinVar
PDGFRA	P16234	p.Asn163Ser	rs1360565030	missense variant	-	NC_000004.12:g.54263787A>G	TOPMed
PDGFRA	P16234	p.Asn163Lys	rs576890188	missense variant	-	NC_000004.12:g.54263788C>G	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Ser164Arg	RCV000633802	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263791T>G	ClinVar
PDGFRA	P16234	p.Ser164Arg	rs776491556	missense variant	-	NC_000004.12:g.54263791T>G	ExAC,gnomAD
PDGFRA	P16234	p.Gly166Val	rs1295802121	missense variant	-	NC_000004.12:g.54263796G>T	TOPMed
PDGFRA	P16234	p.Val167Met	rs587778602	missense variant	-	NC_000004.12:g.54263798G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val167Met	RCV000227178	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263798G>A	ClinVar
PDGFRA	P16234	p.Val167TrpPheSerTerUnkUnk	COSM1430063	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54263794G>-	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val167Leu	rs587778602	missense variant	-	NC_000004.12:g.54263798G>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val168Leu	rs752270672	missense variant	-	NC_000004.12:g.54263801G>C	ExAC,gnomAD
PDGFRA	P16234	p.Val168Ile	rs752270672	missense variant	-	NC_000004.12:g.54263801G>A	ExAC,gnomAD
PDGFRA	P16234	p.Ala170Val	rs1349637223	missense variant	-	NC_000004.12:g.54263808C>T	TOPMed
PDGFRA	P16234	p.Ser171Phe	rs758027394	missense variant	-	NC_000004.12:g.54263811C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser171Thr	COSM1056045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263810T>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Tyr172His	rs1284633844	missense variant	-	NC_000004.12:g.54263813T>C	gnomAD
PDGFRA	P16234	p.Asp173His	rs763718380	missense variant	-	NC_000004.12:g.54263816G>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp173Asn	RCV000230573	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263816G>A	ClinVar
PDGFRA	P16234	p.Asp173Asn	rs763718380	missense variant	-	NC_000004.12:g.54263816G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser174Asn	RCV000553051	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263820G>A	ClinVar
PDGFRA	P16234	p.Ser174Asn	rs1207595829	missense variant	-	NC_000004.12:g.54263820G>A	gnomAD
PDGFRA	P16234	p.Ser174Gly	rs1464980046	missense variant	-	NC_000004.12:g.54263819A>G	gnomAD
PDGFRA	P16234	p.Gln176Arg	RCV000633840	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263826A>G	ClinVar
PDGFRA	P16234	p.Gln176Arg	rs139217250	missense variant	-	NC_000004.12:g.54263826A>G	ESP,TOPMed,gnomAD
PDGFRA	P16234	p.Thr181ProGluValLeuIleArgValArg	NCI-TCGA novel	insertion	-	NC_000004.12:g.54263842_54263843insCCTGAAGTTTTAATCCGTGTAAGA	NCI-TCGA
PDGFRA	P16234	p.Thr181Asn	rs746299618	missense variant	-	NC_000004.12:g.54263841C>A	ExAC,gnomAD
PDGFRA	P16234	p.Phe182SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54263841_54263842insGAGT	NCI-TCGA
PDGFRA	P16234	p.Val184Ile	RCV000707244	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263849G>A	ClinVar
PDGFRA	P16234	p.Val184Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54263849G>C	NCI-TCGA
PDGFRA	P16234	p.Val184Leu	RCV000700820	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263849G>T	ClinVar
PDGFRA	P16234	p.Val184Ala	rs367711512	missense variant	-	NC_000004.12:g.54263850T>C	ESP,TOPMed,gnomAD
PDGFRA	P16234	p.Gly185Glu	COSM116329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263853G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly185Arg	COSM1310129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263852G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly185Trp	COSM587620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54263852G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ile188Val	rs780359954	missense variant	-	NC_000004.12:g.54263861A>G	ExAC,gnomAD
PDGFRA	P16234	p.Ala191Ser	RCV000529330	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263870G>T	ClinVar
PDGFRA	P16234	p.Ala191Ser	rs267600185	missense variant	-	NC_000004.12:g.54263870G>T	ExAC,gnomAD
PDGFRA	P16234	p.Ala191Gly	rs1342445882	missense variant	-	NC_000004.12:g.54263871C>G	TOPMed
PDGFRA	P16234	p.Ala191Thr	rs267600185	missense variant	-	NC_000004.12:g.54263870G>A	ExAC,gnomAD
PDGFRA	P16234	p.Thr192Ser	rs1273444748	missense variant	-	NC_000004.12:g.54263874C>G	TOPMed
PDGFRA	P16234	p.Val193Ile	rs774431464	missense variant	-	NC_000004.12:g.54263876G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys194Glu	rs748162423	missense variant	-	NC_000004.12:g.54263879A>G	ExAC,gnomAD
PDGFRA	P16234	p.Lys194Arg	rs1323449085	missense variant	-	NC_000004.12:g.54263880A>G	gnomAD
PDGFRA	P16234	p.Lys196Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54263887G>T	NCI-TCGA
PDGFRA	P16234	p.Lys197Thr	RCV000546356	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263889A>C	ClinVar
PDGFRA	P16234	p.Lys197Thr	rs200484286	missense variant	-	NC_000004.12:g.54263889A>C	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Phe198Leu	RCV000462670	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263893C>G	ClinVar
PDGFRA	P16234	p.Phe198Leu	rs1018795199	missense variant	-	NC_000004.12:g.54263893C>G	TOPMed,gnomAD
PDGFRA	P16234	p.Phe198Ile	rs562479351	missense variant	-	NC_000004.12:g.54263891T>A	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Gln199Glu	rs1304120162	missense variant	-	NC_000004.12:g.54263894C>G	TOPMed
PDGFRA	P16234	p.Thr200Ser	RCV000284407	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54263898C>G	ClinVar
PDGFRA	P16234	p.Thr200Ser	RCV000228399	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263898C>G	ClinVar
PDGFRA	P16234	p.Thr200Ser	rs149951350	missense variant	-	NC_000004.12:g.54263898C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Pro202Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54263904C>A	NCI-TCGA
PDGFRA	P16234	p.Asn204Asp	RCV000554525	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54263909A>G	ClinVar
PDGFRA	P16234	p.Asn204Asp	rs1553902754	missense variant	-	NC_000004.12:g.54263909A>G	-
PDGFRA	P16234	p.Val205Ile	rs775304724	missense variant	-	NC_000004.12:g.54263912G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu208Phe	rs889394408	missense variant	-	NC_000004.12:g.54263923A>C	gnomAD
PDGFRA	P16234	p.Ala210Glu	RCV000535429	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264919C>A	ClinVar
PDGFRA	P16234	p.Ala210GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54263923A>-	NCI-TCGA
PDGFRA	P16234	p.Ala210Val	rs761446758	missense variant	-	NC_000004.12:g.54264919C>T	ExAC,gnomAD
PDGFRA	P16234	p.Ala210Glu	rs761446758	missense variant	-	NC_000004.12:g.54264919C>A	ExAC,gnomAD
PDGFRA	P16234	p.Thr211Ala	rs1170188252	missense variant	-	NC_000004.12:g.54264921A>G	gnomAD
PDGFRA	P16234	p.Thr211Ile	RCV000689422	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264922C>T	ClinVar
PDGFRA	P16234	p.Glu213Gly	RCV000685223	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264928A>G	ClinVar
PDGFRA	P16234	p.Glu213Ala	rs1461389031	missense variant	-	NC_000004.12:g.54264928A>C	gnomAD
PDGFRA	P16234	p.Leu214Val	rs1369701227	missense variant	-	NC_000004.12:g.54264930C>G	gnomAD
PDGFRA	P16234	p.Asp215His	rs749903216	missense variant	-	NC_000004.12:g.54264933G>C	ExAC,gnomAD
PDGFRA	P16234	p.Asp215Val	rs761102425	missense variant	-	NC_000004.12:g.54264934A>T	ExAC,gnomAD
PDGFRA	P16234	p.Leu216Ile	rs766847405	missense variant	-	NC_000004.12:g.54264936C>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu217Val	COSM6100288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264940A>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu219Gln	RCV000560573	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264945G>C	ClinVar
PDGFRA	P16234	p.Glu219Gln	rs1230177198	missense variant	-	NC_000004.12:g.54264945G>C	gnomAD
PDGFRA	P16234	p.Ala220Gly	COSM6100287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264949C>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Leu221Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54264952T>G	NCI-TCGA
PDGFRA	P16234	p.Leu221Phe	RCV000204480	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264951C>T	ClinVar
PDGFRA	P16234	p.Leu221Phe	rs139913632	missense variant	-	NC_000004.12:g.54264951C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys222Thr	COSM1430065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264955A>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val224Met	RCV000536629	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264960G>A	ClinVar
PDGFRA	P16234	p.Val224Leu	RCV000693730	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264960G>C	ClinVar
PDGFRA	P16234	p.Val224Met	rs1248275606	missense variant	-	NC_000004.12:g.54264960G>A	TOPMed
PDGFRA	P16234	p.Tyr225Cys	RCV000231929	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54264964A>G	ClinVar
PDGFRA	P16234	p.Tyr225Cys	rs878854831	missense variant	-	NC_000004.12:g.54264964A>G	-
PDGFRA	P16234	p.Ser227Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54264970C>A	NCI-TCGA
PDGFRA	P16234	p.Glu229Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54264976A>T	NCI-TCGA
PDGFRA	P16234	p.Glu229Gln	rs1250098734	missense variant	-	NC_000004.12:g.54264975G>C	gnomAD
PDGFRA	P16234	p.Glu229Lys	COSM3409357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264975G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Thr230Met	rs752886996	missense variant	-	NC_000004.12:g.54264979C>T	ExAC,gnomAD
PDGFRA	P16234	p.Val232Leu	rs758580911	missense variant	-	NC_000004.12:g.54264984G>T	ExAC,gnomAD
PDGFRA	P16234	p.Thr234Ile	RCV000522735	missense variant	-	NC_000004.12:g.54264991C>T	ClinVar
PDGFRA	P16234	p.Thr234Ile	rs1553902931	missense variant	-	NC_000004.12:g.54264991C>T	-
PDGFRA	P16234	p.Cys235Ser	COSM3604496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264994G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Cys235Tyr	COSM42897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54264994G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Cys235Arg	rs1452760876	missense variant	-	NC_000004.12:g.54264993T>C	gnomAD
PDGFRA	P16234	p.Val237Ala	rs1190791014	missense variant	-	NC_000004.12:g.54265000T>C	gnomAD
PDGFRA	P16234	p.Asn239Lys	rs769686275	missense variant	-	NC_000004.12:g.54265007C>G	ExAC,gnomAD
PDGFRA	P16234	p.Asn239Tyr	rs747042094	missense variant	-	NC_000004.12:g.54265005A>T	ExAC,gnomAD
PDGFRA	P16234	p.Asn240Ser	rs749141162	missense variant	-	NC_000004.12:g.54265009A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn240His	RCV000549404	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265008A>C	ClinVar
PDGFRA	P16234	p.Asn240His	rs1553902944	missense variant	-	NC_000004.12:g.54265008A>C	-
PDGFRA	P16234	p.Asn240Thr	rs749141162	missense variant	-	NC_000004.12:g.54265009A>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu241Lys	RCV000226332	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265011G>A	ClinVar
PDGFRA	P16234	p.Glu241Lys	rs878854832	missense variant	-	NC_000004.12:g.54265011G>A	TOPMed,gnomAD
PDGFRA	P16234	p.Val242Met	rs1324568225	missense variant	-	NC_000004.12:g.54265014G>A	gnomAD
PDGFRA	P16234	p.Val242Leu	COSM481337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54265014G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val243Ile	RCV000229176	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265017G>A	ClinVar
PDGFRA	P16234	p.Val243Ile	rs774246071	missense variant	-	NC_000004.12:g.54265017G>A	ExAC,gnomAD
PDGFRA	P16234	p.Pro250Ala	rs910676195	missense variant	-	NC_000004.12:g.54265038C>G	TOPMed
PDGFRA	P16234	p.Pro250Leu	COSM3974937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54265039C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly251Glu	RCV000457715	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265042G>A	ClinVar
PDGFRA	P16234	p.Gly251Glu	rs771701353	missense variant	-	NC_000004.12:g.54265042G>A	ExAC,gnomAD
PDGFRA	P16234	p.Glu252Val	RCV000538111	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54265045A>T	ClinVar
PDGFRA	P16234	p.Glu252Ter	COSM1056050	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54265044G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu252Val	rs1553902958	missense variant	-	NC_000004.12:g.54265045A>T	-
PDGFRA	P16234	p.Glu252Lys	rs772605262	missense variant	-	NC_000004.12:g.54265044G>A	ExAC,gnomAD
PDGFRA	P16234	p.Val253Glu	rs1214333123	missense variant	-	NC_000004.12:g.54265048T>A	gnomAD
PDGFRA	P16234	p.Gly255Ser	rs1553903204	missense variant	-	NC_000004.12:g.54267292G>A	-
PDGFRA	P16234	p.Gly255Ser	RCV000633763	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267292G>A	ClinVar
PDGFRA	P16234	p.Gly257Ser	COSM3604497	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267298G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly257Asp	COSM5995340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267299G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ile258Phe	rs1039985533	missense variant	-	NC_000004.12:g.54267301A>T	TOPMed,gnomAD
PDGFRA	P16234	p.Ile258Val	rs1039985533	missense variant	-	NC_000004.12:g.54267301A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Thr259Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267305C>T	NCI-TCGA
PDGFRA	P16234	p.Thr259Ala	RCV000460666	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267304A>G	ClinVar
PDGFRA	P16234	p.Thr259Ala	rs1060501503	missense variant	-	NC_000004.12:g.54267304A>G	-
PDGFRA	P16234	p.Met260Arg	rs1412240615	missense variant	-	NC_000004.12:g.54267308T>G	gnomAD
PDGFRA	P16234	p.Met260Val	rs373234192	missense variant	-	NC_000004.12:g.54267307A>G	ESP,ExAC,gnomAD
PDGFRA	P16234	p.Glu262Lys	RCV000633778	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267313G>A	ClinVar
PDGFRA	P16234	p.Glu262Gln	RCV000473827	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267313G>C	ClinVar
PDGFRA	P16234	p.Glu262Lys	rs376265745	missense variant	-	NC_000004.12:g.54267313G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu262Gln	rs376265745	missense variant	-	NC_000004.12:g.54267313G>C	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys265Asn	rs763363386	missense variant	-	NC_000004.12:g.54267324A>C	ExAC,gnomAD
PDGFRA	P16234	p.Lys265Gln	rs1280969522	missense variant	-	NC_000004.12:g.54267322A>C	gnomAD
PDGFRA	P16234	p.Val266Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267325G>A	NCI-TCGA
PDGFRA	P16234	p.Val266Ala	COSM283924	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267326T>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Pro267Ser	RCV000525805	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267328C>T	ClinVar
PDGFRA	P16234	p.Pro267Ser	rs757378016	missense variant	-	NC_000004.12:g.54267328C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser268Thr	RCV000472082	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267331T>A	ClinVar
PDGFRA	P16234	p.Ser268Thr	rs140245841	missense variant	-	NC_000004.12:g.54267331T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser268Phe	rs754973533	missense variant	-	NC_000004.12:g.54267332C>T	ExAC,gnomAD
PDGFRA	P16234	p.Lys270Arg	rs545359247	missense variant	-	NC_000004.12:g.54267338A>G	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys270Thr	rs545359247	missense variant	-	NC_000004.12:g.54267338A>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys270Glu	rs1263572484	missense variant	-	NC_000004.12:g.54267337A>G	TOPMed
PDGFRA	P16234	p.Val272Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267343G>A	NCI-TCGA
PDGFRA	P16234	p.Thr274Ser	RCV000538238	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267349A>T	ClinVar
PDGFRA	P16234	p.Thr274Ser	rs758194640	missense variant	-	NC_000004.12:g.54267350C>G	ExAC,gnomAD
PDGFRA	P16234	p.Thr274Ser	rs747956260	missense variant	-	NC_000004.12:g.54267349A>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu275Ser	rs1433722204	missense variant	-	NC_000004.12:g.54267353T>C	gnomAD
PDGFRA	P16234	p.Thr276Met	RCV000301188	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54267356C>T	ClinVar
PDGFRA	P16234	p.Thr276Met	RCV000356042	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267356C>T	ClinVar
PDGFRA	P16234	p.Thr276Met	rs142492533	missense variant	-	NC_000004.12:g.54267356C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu279Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54267364G>T	NCI-TCGA
PDGFRA	P16234	p.Glu279Lys	RCV000633736	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267364G>A	ClinVar
PDGFRA	P16234	p.Glu279Lys	rs776121704	missense variant	-	NC_000004.12:g.54267364G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala280Ser	RCV000465878	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267367G>T	ClinVar
PDGFRA	P16234	p.Ala280Ser	rs150927351	missense variant	-	NC_000004.12:g.54267367G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr281Met	RCV000232711	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267371C>T	ClinVar
PDGFRA	P16234	p.Thr281Met	rs770343276	missense variant	-	NC_000004.12:g.54267371C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val282Ala	COSM4125127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267374T>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val282Glu	COSM265841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267374T>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ser285Gly	RCV000121798	missense variant	-	NC_000004.12:g.54267382A>G	ClinVar
PDGFRA	P16234	p.Ser285Gly	rs541057765	missense variant	-	NC_000004.12:g.54267382A>G	ExAC,gnomAD
PDGFRA	P16234	p.Asp287Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267388G>T	NCI-TCGA
PDGFRA	P16234	p.Asp287Gly	rs1305108075	missense variant	-	NC_000004.12:g.54267389A>G	TOPMed
PDGFRA	P16234	p.Asp287Asn	RCV000633806	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267388G>A	ClinVar
PDGFRA	P16234	p.Asp287Asn	rs1553903251	missense variant	-	NC_000004.12:g.54267388G>A	-
PDGFRA	P16234	p.Tyr288His	COSM3409358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267391T>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu289Lys	rs958381664	missense variant	-	NC_000004.12:g.54267394G>A	TOPMed,gnomAD
PDGFRA	P16234	p.Glu289Lys	RCV000633819	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267394G>A	ClinVar
PDGFRA	P16234	p.Ala291Gly	RCV000229404	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267401C>G	ClinVar
PDGFRA	P16234	p.Ala291Gly	rs774527841	missense variant	-	NC_000004.12:g.54267401C>G	ExAC,gnomAD
PDGFRA	P16234	p.Arg293Cys	RCV000459421	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267406C>T	ClinVar
PDGFRA	P16234	p.Arg293His	RCV000764536	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267407G>A	ClinVar
PDGFRA	P16234	p.Arg293His	RCV000633837	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267407G>A	ClinVar
PDGFRA	P16234	p.Arg293Cys	rs762106764	missense variant	-	NC_000004.12:g.54267406C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg293His	rs373948582	missense variant	-	NC_000004.12:g.54267407G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg293Leu	rs373948582	missense variant	-	NC_000004.12:g.54267407G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr296Ala	rs760828332	missense variant	-	NC_000004.12:g.54267415A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg297Lys	RCV000459535	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267419G>A	ClinVar
PDGFRA	P16234	p.Arg297Lys	rs1060501507	missense variant	-	NC_000004.12:g.54267419G>A	-
PDGFRA	P16234	p.Arg297Gly	rs765319021	missense variant	-	NC_000004.12:g.54267418A>G	ExAC,gnomAD
PDGFRA	P16234	p.Glu298Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267422A>T	NCI-TCGA
PDGFRA	P16234	p.Val299Ala	RCV000034724	missense variant	-	NC_000004.12:g.54267425T>C	ClinVar
PDGFRA	P16234	p.Val299Ile	rs752649434	missense variant	-	NC_000004.12:g.54267424G>A	ExAC,gnomAD
PDGFRA	P16234	p.Val299Ala	rs200033396	missense variant	-	NC_000004.12:g.54267425T>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys300Glu	rs996658686	missense variant	-	NC_000004.12:g.54267427A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Lys300Glu	RCV000539737	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267427A>G	ClinVar
PDGFRA	P16234	p.Lys300Thr	RCV000227792	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267428A>C	ClinVar
PDGFRA	P16234	p.Lys300Thr	rs368648130	missense variant	-	NC_000004.12:g.54267428A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu301Ter	COSM283925	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54267430G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu301Lys	RCV000633838	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267430G>A	ClinVar
PDGFRA	P16234	p.Glu301Ala	rs751257703	missense variant	-	NC_000004.12:g.54267431A>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu301Val	rs751257703	missense variant	-	NC_000004.12:g.54267431A>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu301Lys	rs1553903287	missense variant	-	NC_000004.12:g.54267430G>A	-
PDGFRA	P16234	p.Met302Leu	RCV000552216	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267433A>T	ClinVar
PDGFRA	P16234	p.Met302Val	RCV000465542	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267433A>G	ClinVar
PDGFRA	P16234	p.Met302Val	rs1060501512	missense variant	-	NC_000004.12:g.54267433A>G	-
PDGFRA	P16234	p.Met302Leu	rs1060501512	missense variant	-	NC_000004.12:g.54267433A>T	-
PDGFRA	P16234	p.Lys303Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267438G>T	NCI-TCGA
PDGFRA	P16234	p.Val305Ile	RCV000533063	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267442G>A	ClinVar
PDGFRA	P16234	p.Val305Ile	rs1396396699	missense variant	-	NC_000004.12:g.54267442G>A	TOPMed,gnomAD
PDGFRA	P16234	p.Thr306Ala	RCV000687518	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267445A>G	ClinVar
PDGFRA	P16234	p.Thr306Ala	rs1408714732	missense variant	-	NC_000004.12:g.54267445A>G	gnomAD
PDGFRA	P16234	p.Ile307Met	rs1553903298	missense variant	-	NC_000004.12:g.54267450T>G	-
PDGFRA	P16234	p.Ile307Val	rs371882159	missense variant	-	NC_000004.12:g.54267448A>G	ESP,ExAC,gnomAD
PDGFRA	P16234	p.Ile307Met	RCV000540947	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267450T>G	ClinVar
PDGFRA	P16234	p.Val309Ala	rs1395338355	missense variant	-	NC_000004.12:g.54267455T>C	gnomAD
PDGFRA	P16234	p.His310GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54267456_54267457insGG	NCI-TCGA
PDGFRA	P16234	p.Glu311Asp	COSM1056055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267553G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly313Val	COSM4125128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267558G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly313Ala	rs1293806775	missense variant	-	NC_000004.12:g.54267558G>C	gnomAD
PDGFRA	P16234	p.Thr320Ile	rs779626645	missense variant	-	NC_000004.12:g.54267579C>T	ExAC,gnomAD
PDGFRA	P16234	p.Phe321Tyr	COSM6167431	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267582T>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gln323His	RCV000558273	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267589G>C	ClinVar
PDGFRA	P16234	p.Gln323Glu	rs138296072	missense variant	-	NC_000004.12:g.54267587C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gln323Glu	RCV000467030	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267587C>G	ClinVar
PDGFRA	P16234	p.Gln323His	rs769276081	missense variant	-	NC_000004.12:g.54267589G>C	ExAC,gnomAD
PDGFRA	P16234	p.Gln323His	rs769276081	missense variant	-	NC_000004.12:g.54267589G>T	ExAC,gnomAD
PDGFRA	P16234	p.Leu324Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267592G>T	NCI-TCGA
PDGFRA	P16234	p.Val327Leu	rs748576202	missense variant	-	NC_000004.12:g.54267599G>C	ExAC,gnomAD
PDGFRA	P16234	p.Asn328Asp	RCV000633732	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267602A>G	ClinVar
PDGFRA	P16234	p.Asn328Ser	rs878854835	missense variant	-	NC_000004.12:g.54267603A>G	gnomAD
PDGFRA	P16234	p.Asn328Asp	rs772538462	missense variant	-	NC_000004.12:g.54267602A>G	ExAC,gnomAD
PDGFRA	P16234	p.Asn328Ser	RCV000230626	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267603A>G	ClinVar
PDGFRA	P16234	p.Leu329Pro	RCV000694062	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267606T>C	ClinVar
PDGFRA	P16234	p.Leu329Pro	rs1162814935	missense variant	-	NC_000004.12:g.54267606T>C	TOPMed,gnomAD
PDGFRA	P16234	p.His330Tyr	RCV000530074	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267608C>T	ClinVar
PDGFRA	P16234	p.His330Tyr	rs991683337	missense variant	-	NC_000004.12:g.54267608C>T	TOPMed,gnomAD
PDGFRA	P16234	p.Glu331Ter	COSM283926	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54267611G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu331Lys	COSM3604498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267611G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val332Ala	RCV000287493	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267615T>C	ClinVar
PDGFRA	P16234	p.Val332Ala	rs878854837	missense variant	-	NC_000004.12:g.54267615T>C	-
PDGFRA	P16234	p.Val332Ala	RCV000381886	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54267615T>C	ClinVar
PDGFRA	P16234	p.Val332Asp	RCV000227020	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267615T>A	ClinVar
PDGFRA	P16234	p.Val332Asp	rs878854837	missense variant	-	NC_000004.12:g.54267615T>A	-
PDGFRA	P16234	p.Glu338Gln	COSM48645	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267632G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val339Leu	rs747257877	missense variant	-	NC_000004.12:g.54267635G>T	ExAC,gnomAD
PDGFRA	P16234	p.Arg340Gln	rs77524207	missense variant	-	NC_000004.12:g.54267639G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg340Gln	RCV000034712	missense variant	-	NC_000004.12:g.54267639G>A	ClinVar
PDGFRA	P16234	p.Arg340Trp	RCV000473903	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267638C>T	ClinVar
PDGFRA	P16234	p.Arg340Trp	rs376626935	missense variant	-	NC_000004.12:g.54267638C>T	ESP,TOPMed,gnomAD
PDGFRA	P16234	p.Pro343Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267647C>T	NCI-TCGA
PDGFRA	P16234	p.Pro344Thr	rs764140125	missense variant	-	NC_000004.12:g.54267650C>A	ExAC,gnomAD
PDGFRA	P16234	p.Pro345Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267653C>T	NCI-TCGA
PDGFRA	P16234	p.Arg346Met	rs78608730	missense variant	-	NC_000004.12:g.54267657G>T	ExAC,gnomAD
PDGFRA	P16234	p.Arg346Thr	rs78608730	missense variant	-	NC_000004.12:g.54267657G>C	ExAC,gnomAD
PDGFRA	P16234	p.Arg346Gly	rs1230076983	missense variant	-	NC_000004.12:g.54267656A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Trp349Cys	COSM35395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267667G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Leu350Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267668C>A	NCI-TCGA
PDGFRA	P16234	p.Asn353His	RCV000121799	missense variant	-	NC_000004.12:g.54267677A>C	ClinVar
PDGFRA	P16234	p.Asn353Tyr	rs139103850	missense variant	-	NC_000004.12:g.54267677A>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn353His	rs139103850	missense variant	-	NC_000004.12:g.54267677A>C	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr355Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267684C>T	NCI-TCGA
PDGFRA	P16234	p.Leu356Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267687T>G	NCI-TCGA
PDGFRA	P16234	p.Ile357Thr	rs1553903357	missense variant	-	NC_000004.12:g.54267690T>C	-
PDGFRA	P16234	p.Ile357Thr	RCV000542165	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267690T>C	ClinVar
PDGFRA	P16234	p.Thr361Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267702C>G	NCI-TCGA
PDGFRA	P16234	p.Glu362Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267705A>C	NCI-TCGA
PDGFRA	P16234	p.Ile363Leu	rs750157633	missense variant	-	NC_000004.12:g.54267707A>C	ExAC,gnomAD
PDGFRA	P16234	p.Thr365Ile	rs1303150389	missense variant	-	NC_000004.12:g.54267714C>T	TOPMed
PDGFRA	P16234	p.Val367Met	RCV000034713	missense variant	-	NC_000004.12:g.54267719G>A	ClinVar
PDGFRA	P16234	p.Val367Met	RCV000229189	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267719G>A	ClinVar
PDGFRA	P16234	p.Val367Met	rs147982027	missense variant	-	NC_000004.12:g.54267719G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu368Gly	RCV000459793	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267723A>G	ClinVar
PDGFRA	P16234	p.Glu368Gly	rs1060501521	missense variant	-	NC_000004.12:g.54267723A>G	-
PDGFRA	P16234	p.Glu368Gln	rs1357067277	missense variant	-	NC_000004.12:g.54267722G>C	TOPMed
PDGFRA	P16234	p.Ile370Val	RCV000539089	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54267728A>G	ClinVar
PDGFRA	P16234	p.Ile370Val	rs1553903361	missense variant	-	NC_000004.12:g.54267728A>G	-
PDGFRA	P16234	p.Gln371Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54267732A>C	NCI-TCGA
PDGFRA	P16234	p.Gln371Glu	rs1419727467	missense variant	-	NC_000004.12:g.54267731C>G	gnomAD
PDGFRA	P16234	p.Glu372Lys	COSM2152662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54267734G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg374Ser	RCV000121801	missense variant	-	NC_000004.12:g.54270633G>C	ClinVar
PDGFRA	P16234	p.Arg374Ser	rs61735622	missense variant	-	NC_000004.12:g.54270633G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg376Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54270637C>T	NCI-TCGA
PDGFRA	P16234	p.Arg376Gln	RCV000476232	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270638G>A	ClinVar
PDGFRA	P16234	p.Arg376Gln	rs41279521	missense variant	-	NC_000004.12:g.54270638G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser377Gly	rs1553903724	missense variant	-	NC_000004.12:g.54270640A>G	-
PDGFRA	P16234	p.Ser377Gly	RCV000556225	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270640A>G	ClinVar
PDGFRA	P16234	p.Lys378Ile	RCV000206492	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270644A>T	ClinVar
PDGFRA	P16234	p.Lys378Ile	rs200113704	missense variant	-	NC_000004.12:g.54270644A>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys378Thr	rs200113704	missense variant	-	NC_000004.12:g.54270644A>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu379Val	RCV000515443	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270646T>G	ClinVar
PDGFRA	P16234	p.Leu379Val	RCV000203175	missense variant	-	NC_000004.12:g.54270646T>G	ClinVar
PDGFRA	P16234	p.Leu379Val	rs199827643	missense variant	-	NC_000004.12:g.54270646T>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile382Thr	rs1369890012	missense variant	-	NC_000004.12:g.54270656T>C	TOPMed
PDGFRA	P16234	p.Arg383His	rs1368411882	missense variant	-	NC_000004.12:g.54270659G>A	gnomAD
PDGFRA	P16234	p.Arg383Cys	rs1324781921	missense variant	-	NC_000004.12:g.54270658C>T	gnomAD
PDGFRA	P16234	p.Arg383His	RCV000694110	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270659G>A	ClinVar
PDGFRA	P16234	p.Lys385Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270666G>T	NCI-TCGA
PDGFRA	P16234	p.Glu387Gly	rs930852806	missense variant	-	NC_000004.12:g.54270671A>G	gnomAD
PDGFRA	P16234	p.Glu387Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270670G>A	NCI-TCGA
PDGFRA	P16234	p.Glu387Gln	rs757529905	missense variant	-	NC_000004.12:g.54270670G>C	ExAC,gnomAD
PDGFRA	P16234	p.Asp388His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270673G>C	NCI-TCGA
PDGFRA	P16234	p.Asp388Asn	rs1227372630	missense variant	-	NC_000004.12:g.54270673G>A	TOPMed,gnomAD
PDGFRA	P16234	p.Asp388Glu	COSM734180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54270675C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ser389Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270677G>A	NCI-TCGA
PDGFRA	P16234	p.Gly390Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270680G>A	NCI-TCGA
PDGFRA	P16234	p.Gly390Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270679G>A	NCI-TCGA
PDGFRA	P16234	p.His391Tyr	RCV000633745	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270682C>T	ClinVar
PDGFRA	P16234	p.His391Gln	RCV000551922	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270684T>G	ClinVar
PDGFRA	P16234	p.His391Gln	rs1553903746	missense variant	-	NC_000004.12:g.54270684T>G	-
PDGFRA	P16234	p.His391Tyr	rs781579645	missense variant	-	NC_000004.12:g.54270682C>T	ExAC,gnomAD
PDGFRA	P16234	p.Tyr392Phe	rs746100370	missense variant	-	NC_000004.12:g.54270686A>T	ExAC,gnomAD
PDGFRA	P16234	p.Val395Leu	RCV000633769	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270694G>T	ClinVar
PDGFRA	P16234	p.Val395Ala	rs1252610121	missense variant	-	NC_000004.12:g.54270695T>C	gnomAD
PDGFRA	P16234	p.Val395Leu	rs1354659434	missense variant	-	NC_000004.12:g.54270694G>T	TOPMed
PDGFRA	P16234	p.Ala396LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54270695_54270696insACTCTTCAATTTA	NCI-TCGA
PDGFRA	P16234	p.Ala396Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270697G>A	NCI-TCGA
PDGFRA	P16234	p.Ala396ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54270697_54270698insTTTTATTTTTA	NCI-TCGA
PDGFRA	P16234	p.Ala396Ser	rs1327567130	missense variant	-	NC_000004.12:g.54270697G>T	TOPMed
PDGFRA	P16234	p.Ala396Val	rs1403199114	missense variant	-	NC_000004.12:g.54270698C>T	gnomAD
PDGFRA	P16234	p.Gln397Glu	RCV000707536	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270700C>G	ClinVar
PDGFRA	P16234	p.Gln397Glu	rs1467315284	missense variant	-	NC_000004.12:g.54270700C>G	gnomAD
PDGFRA	P16234	p.Glu399Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270706G>A	NCI-TCGA
PDGFRA	P16234	p.Glu399Asp	RCV000692622	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270708A>T	ClinVar
PDGFRA	P16234	p.Glu399Asp	rs1429740752	missense variant	-	NC_000004.12:g.54270708A>T	TOPMed
PDGFRA	P16234	p.Asp400Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270709G>T	NCI-TCGA
PDGFRA	P16234	p.Asp400Gly	RCV000688693	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270710A>G	ClinVar
PDGFRA	P16234	p.Asp400Asn	COSM2155648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54270709G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ala401Asp	RCV000466976	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270713C>A	ClinVar
PDGFRA	P16234	p.Ala401Val	rs397514549	missense variant	-	NC_000004.12:g.54270713C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala401Asp	rs397514549	missense variant	-	NC_000004.12:g.54270713C>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser404Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270721A>T	NCI-TCGA
PDGFRA	P16234	p.Tyr405Cys	rs1553903757	missense variant	-	NC_000004.12:g.54270725A>G	-
PDGFRA	P16234	p.Tyr405Cys	RCV000633822	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270725A>G	ClinVar
PDGFRA	P16234	p.Thr406Ile	rs772053864	missense variant	-	NC_000004.12:g.54270728C>T	ExAC,gnomAD
PDGFRA	P16234	p.Glu408Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54270735A>C	NCI-TCGA
PDGFRA	P16234	p.Glu408Val	rs1553903767	missense variant	-	NC_000004.12:g.54270734A>T	-
PDGFRA	P16234	p.Glu408Val	RCV000558048	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54270734A>T	ClinVar
PDGFRA	P16234	p.Glu408Gln	rs1189746481	missense variant	-	NC_000004.12:g.54270733G>C	TOPMed
PDGFRA	P16234	p.Val413Phe	rs1420000204	missense variant	-	NC_000004.12:g.54270748G>T	gnomAD
PDGFRA	P16234	p.Pro414Ser	COSM3604501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272396C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ser415Pro	RCV000463519	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272399T>C	ClinVar
PDGFRA	P16234	p.Ser415Pro	rs1060501514	missense variant	-	NC_000004.12:g.54272399T>C	gnomAD
PDGFRA	P16234	p.Asp419Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54272413C>A	NCI-TCGA
PDGFRA	P16234	p.Asp419Tyr	rs749421720	missense variant	-	NC_000004.12:g.54272411G>T	ExAC,gnomAD
PDGFRA	P16234	p.Asp422Asn	RCV000546581	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272420G>A	ClinVar
PDGFRA	P16234	p.Asp422GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54272416_54272417insGTCGA	NCI-TCGA
PDGFRA	P16234	p.Asp422Gly	rs1285204456	missense variant	-	NC_000004.12:g.54272421A>G	gnomAD
PDGFRA	P16234	p.Asp422Asn	rs770847351	missense variant	-	NC_000004.12:g.54272420G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp423Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54272424A>C	NCI-TCGA
PDGFRA	P16234	p.Asp423Asn	rs776298880	missense variant	-	NC_000004.12:g.54272423G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp423His	rs776298880	missense variant	-	NC_000004.12:g.54272423G>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.His425Arg	RCV000463210	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272430A>G	ClinVar
PDGFRA	P16234	p.His425Arg	RCV000764537	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272430A>G	ClinVar
PDGFRA	P16234	p.His425Tyr	RCV000558277	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272429C>T	ClinVar
PDGFRA	P16234	p.His425Gln	RCV000633841	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272431T>G	ClinVar
PDGFRA	P16234	p.His425Leu	rs769631321	missense variant	-	NC_000004.12:g.54272430A>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.His425Tyr	rs759374919	missense variant	-	NC_000004.12:g.54272429C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.His425Gln	rs1553904015	missense variant	-	NC_000004.12:g.54272431T>G	-
PDGFRA	P16234	p.His425Arg	rs769631321	missense variant	-	NC_000004.12:g.54272430A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser427Leu	rs61735621	missense variant	-	NC_000004.12:g.54272436C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser427Leu	RCV000464440	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272436C>T	ClinVar
PDGFRA	P16234	p.Thr428Ile	RCV000228913	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272439C>T	ClinVar
PDGFRA	P16234	p.Thr428Ser	RCV000233937	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272439C>G	ClinVar
PDGFRA	P16234	p.Thr428Ile	rs762651640	missense variant	-	NC_000004.12:g.54272439C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr428Ala	rs878854820	missense variant	-	NC_000004.12:g.54272438A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Thr428Ala	RCV000230513	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272438A>G	ClinVar
PDGFRA	P16234	p.Thr428Ser	rs762651640	missense variant	-	NC_000004.12:g.54272439C>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gly429Arg	rs150577828	missense variant	-	NC_000004.12:g.54272441G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gly429Arg	RCV000034714	missense variant	-	NC_000004.12:g.54272441G>A	ClinVar
PDGFRA	P16234	p.Gly430Val	rs202072966	missense variant	-	NC_000004.12:g.54272445G>T	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Gly430Glu	rs202072966	missense variant	-	NC_000004.12:g.54272445G>A	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Gly430Arg	rs1197237938	missense variant	-	NC_000004.12:g.54272444G>A	TOPMed
PDGFRA	P16234	p.Gln431Arg	COSM72132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272448A>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Thr432Met	RCV000534432	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272451C>T	ClinVar
PDGFRA	P16234	p.Thr432Met	rs750809787	missense variant	-	NC_000004.12:g.54272451C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val433Met	rs1377684828	missense variant	-	NC_000004.12:g.54272453G>A	gnomAD
PDGFRA	P16234	p.Arg434Thr	COSM6100286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272457G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Thr436Ile	rs139920579	missense variant	-	NC_000004.12:g.54272463C>T	ESP,ExAC,gnomAD
PDGFRA	P16234	p.Thr436Ile	RCV000121803	missense variant	-	NC_000004.12:g.54272463C>T	ClinVar
PDGFRA	P16234	p.Ala437Val	rs1553904029	missense variant	-	NC_000004.12:g.54272466C>T	-
PDGFRA	P16234	p.Ala437Val	RCV000633775	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272466C>T	ClinVar
PDGFRA	P16234	p.Glu438Gly	rs754091886	missense variant	-	NC_000004.12:g.54272469A>G	ExAC,gnomAD
PDGFRA	P16234	p.Gly439Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54272472G>T	NCI-TCGA
PDGFRA	P16234	p.Thr440Ala	rs1038766927	missense variant	-	NC_000004.12:g.54272474A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Thr440Ser	rs1038766927	missense variant	-	NC_000004.12:g.54272474A>T	TOPMed,gnomAD
PDGFRA	P16234	p.Thr440Met	rs143344944	missense variant	-	NC_000004.12:g.54272475C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr440Met	RCV000228500	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272475C>T	ClinVar
PDGFRA	P16234	p.Pro441Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54272477C>T	NCI-TCGA
PDGFRA	P16234	p.Pro441Leu	rs1031763557	missense variant	-	NC_000004.12:g.54272478C>T	gnomAD
PDGFRA	P16234	p.Leu442Pro	RCV000764538	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272481T>C	ClinVar
PDGFRA	P16234	p.Leu442Pro	RCV000226324	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272481T>C	ClinVar
PDGFRA	P16234	p.Leu442Pro	RCV000034715	missense variant	-	NC_000004.12:g.54272481T>C	ClinVar
PDGFRA	P16234	p.Leu442Phe	rs757211711	missense variant	-	NC_000004.12:g.54272480C>T	ExAC,gnomAD
PDGFRA	P16234	p.Leu442Pro	rs139236922	missense variant	-	NC_000004.12:g.54272481T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp444His	rs745702167	missense variant	-	NC_000004.12:g.54272486G>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp444Tyr	rs745702167	missense variant	-	NC_000004.12:g.54272486G>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile445Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54272489A>G	NCI-TCGA
PDGFRA	P16234	p.Glu446Lys	RCV000633820	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272492G>A	ClinVar
PDGFRA	P16234	p.Glu446Lys	rs1441980002	missense variant	-	NC_000004.12:g.54272492G>A	TOPMed
PDGFRA	P16234	p.Trp447Cys	COSM3409361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272497G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Met448Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54272499T>G	NCI-TCGA
PDGFRA	P16234	p.Met448Ile	COSM6167428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272500G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Met448Ile	rs769740571	missense variant	-	NC_000004.12:g.54272500G>C	ExAC,gnomAD
PDGFRA	P16234	p.Ile449Met	RCV000462581	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272503A>G	ClinVar
PDGFRA	P16234	p.Ile449Val	COSM4125131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54272501A>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ile449Met	rs775373016	missense variant	-	NC_000004.12:g.54272503A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys451Asn	rs748958360	missense variant	-	NC_000004.12:g.54272509A>C	ExAC,gnomAD
PDGFRA	P16234	p.Lys451Arg	RCV000633734	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272508A>G	ClinVar
PDGFRA	P16234	p.Lys451Arg	rs1178568199	missense variant	-	NC_000004.12:g.54272508A>G	TOPMed
PDGFRA	P16234	p.Lys451Thr	rs1178568199	missense variant	-	NC_000004.12:g.54272508A>C	TOPMed
PDGFRA	P16234	p.Asp452Tyr	RCV000695443	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272510G>T	ClinVar
PDGFRA	P16234	p.Asp452Tyr	rs1204540280	missense variant	-	NC_000004.12:g.54272510G>T	TOPMed,gnomAD
PDGFRA	P16234	p.Ile453Val	RCV000475784	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272513A>G	ClinVar
PDGFRA	P16234	p.Ile453Phe	rs587778603	missense variant	-	NC_000004.12:g.54272513A>T	-
PDGFRA	P16234	p.Ile453Val	rs587778603	missense variant	-	NC_000004.12:g.54272513A>G	-
PDGFRA	P16234	p.Ile453Phe	RCV000121802	missense variant	-	NC_000004.12:g.54272513A>T	ClinVar
PDGFRA	P16234	p.Lys455Arg	RCV000633801	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54272520A>G	ClinVar
PDGFRA	P16234	p.Lys455Arg	rs1553904049	missense variant	-	NC_000004.12:g.54272520A>G	-
PDGFRA	P16234	p.Cys456Tyr	RCV000633724	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273539G>A	ClinVar
PDGFRA	P16234	p.Cys456Tyr	rs761185076	missense variant	-	NC_000004.12:g.54273539G>A	ExAC,gnomAD
PDGFRA	P16234	p.Cys456Phe	rs761185076	missense variant	-	NC_000004.12:g.54273539G>T	ExAC,gnomAD
PDGFRA	P16234	p.Asn457Tyr	rs1294435524	missense variant	-	NC_000004.12:g.54273541A>T	gnomAD
PDGFRA	P16234	p.Asn458Ser	rs777051666	missense variant	-	NC_000004.12:g.54273545A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn458Ile	rs777051666	missense variant	-	NC_000004.12:g.54273545A>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu459Lys	rs267600186	missense variant	-	NC_000004.12:g.54273547G>A	-
PDGFRA	P16234	p.Thr460Ile	rs1213594792	missense variant	-	NC_000004.12:g.54273551C>T	TOPMed
PDGFRA	P16234	p.Thr463Ser	RCV000229738	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273560C>G	ClinVar
PDGFRA	P16234	p.Thr463Ser	rs375047532	missense variant	-	NC_000004.12:g.54273560C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr463Ala	rs759885036	missense variant	-	NC_000004.12:g.54273559A>G	ExAC,gnomAD
PDGFRA	P16234	p.Asn467Lys	RCV000231459	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273573C>A	ClinVar
PDGFRA	P16234	p.Asn467Lys	rs878854821	missense variant	-	NC_000004.12:g.54273573C>A	-
PDGFRA	P16234	p.Asn468Lys	rs1207731107	missense variant	-	NC_000004.12:g.54273576T>A	gnomAD
PDGFRA	P16234	p.Asn468Lys	rs1207731107	missense variant	-	NC_000004.12:g.54273576T>G	gnomAD
PDGFRA	P16234	p.Asn468Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54273574A>G	NCI-TCGA
PDGFRA	P16234	p.Asn468Ser	COSM2155032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273575A>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val469Tyr	RCV000685055	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273577_54273578delinsTA	ClinVar
PDGFRA	P16234	p.Val469Ile	RCV000465785	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273577G>A	ClinVar
PDGFRA	P16234	p.Val469Ile	rs1060501506	missense variant	-	NC_000004.12:g.54273577G>A	-
PDGFRA	P16234	p.Ser470Leu	COSM3917926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273581C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asn471Asp	RCV000474852	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273583A>G	ClinVar
PDGFRA	P16234	p.Asn471His	RCV000535773	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273583A>C	ClinVar
PDGFRA	P16234	p.Asn471Asp	rs758497476	missense variant	-	NC_000004.12:g.54273583A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn471His	rs758497476	missense variant	-	NC_000004.12:g.54273583A>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn471Ser	rs1199380187	missense variant	-	NC_000004.12:g.54273584A>G	gnomAD
PDGFRA	P16234	p.Ile472Ser	RCV000548403	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273587T>G	ClinVar
PDGFRA	P16234	p.Ile472Val	rs1553904177	missense variant	-	NC_000004.12:g.54273586A>G	-
PDGFRA	P16234	p.Ile472Val	RCV000633742	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273586A>G	ClinVar
PDGFRA	P16234	p.Ile472Ser	rs201223501	missense variant	-	NC_000004.12:g.54273587T>G	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Ile473Val	rs587778594	missense variant	-	NC_000004.12:g.54273589A>G	-
PDGFRA	P16234	p.Ile473Val	RCV000705571	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273589A>G	ClinVar
PDGFRA	P16234	p.Thr474Met	RCV000633720	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273593C>T	ClinVar
PDGFRA	P16234	p.Thr474Met	rs751618661	missense variant	-	NC_000004.12:g.54273593C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu475Ala	RCV000475997	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273596A>C	ClinVar
PDGFRA	P16234	p.Glu475Asp	RCV000471079	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273597G>T	ClinVar
PDGFRA	P16234	p.Glu475Ala	rs780125769	missense variant	-	NC_000004.12:g.54273596A>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu475Asp	rs200309940	missense variant	-	NC_000004.12:g.54273597G>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile476Leu	rs1329845160	missense variant	-	NC_000004.12:g.54273598A>C	TOPMed
PDGFRA	P16234	p.His477Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54273601C>T	NCI-TCGA
PDGFRA	P16234	p.His477Asn	rs1553904188	missense variant	-	NC_000004.12:g.54273601C>A	-
PDGFRA	P16234	p.His477Asn	RCV000633828	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273601C>A	ClinVar
PDGFRA	P16234	p.Ser478Pro	RCV000326887	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273604T>C	ClinVar
PDGFRA	P16234	p.Ser478Pro	RCV000034716	missense variant	-	NC_000004.12:g.54273604T>C	ClinVar
PDGFRA	P16234	p.Ser478Pro	RCV000121780	missense variant	-	NC_000004.12:g.54273604T>C	ClinVar
PDGFRA	P16234	p.Ser478Pro	RCV000381487	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54273604T>C	ClinVar
PDGFRA	P16234	p.Ser478Pro	rs35597368	missense variant	-	NC_000004.12:g.54273604T>C	UniProt,dbSNP
PDGFRA	P16234	p.Ser478Pro	VAR_034378	missense variant	-	NC_000004.12:g.54273604T>C	UniProt
PDGFRA	P16234	p.Ser478Pro	rs35597368	missense variant	-	NC_000004.12:g.54273604T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg479Gln	RCV000229276	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273608G>A	ClinVar
PDGFRA	P16234	p.Arg479Gln	rs777341485	missense variant	-	NC_000004.12:g.54273608G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg479Ter	rs771567933	stop gained	-	NC_000004.12:g.54273607C>T	ExAC,gnomAD
PDGFRA	P16234	p.Asp480Asn	RCV000541402	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273610G>A	ClinVar
PDGFRA	P16234	p.Asp480Glu	rs144723510	missense variant	-	NC_000004.12:g.54273612C>G	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Asp480Asn	rs746522772	missense variant	-	NC_000004.12:g.54273610G>A	ExAC,gnomAD
PDGFRA	P16234	p.Arg481Gly	VAR_066460	Missense	-	-	UniProt
PDGFRA	P16234	p.Ser482Gly	rs1423737250	missense variant	-	NC_000004.12:g.54273616A>G	gnomAD
PDGFRA	P16234	p.Thr483Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54273620C>G	NCI-TCGA
PDGFRA	P16234	p.Val484Met	rs149031291	missense variant	-	NC_000004.12:g.54273622G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val484Met	RCV000658998	missense variant	-	NC_000004.12:g.54273622G>A	ClinVar
PDGFRA	P16234	p.Val484Met	RCV000233265	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273622G>A	ClinVar
PDGFRA	P16234	p.Glu485Lys	rs1354231704	missense variant	-	NC_000004.12:g.54273625G>A	gnomAD
PDGFRA	P16234	p.Gly486Ser	rs775656600	missense variant	-	NC_000004.12:g.54273628G>A	ExAC,gnomAD
PDGFRA	P16234	p.Arg487Ser	RCV000463566	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273631C>A	ClinVar
PDGFRA	P16234	p.Arg487His	RCV000633729	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273632G>A	ClinVar
PDGFRA	P16234	p.Arg487Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54273632G>C	NCI-TCGA
PDGFRA	P16234	p.Arg487Cys	RCV000476217	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273631C>T	ClinVar
PDGFRA	P16234	p.Arg487Cys	rs763237825	missense variant	-	NC_000004.12:g.54273631C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg487Ser	rs763237825	missense variant	-	NC_000004.12:g.54273631C>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg487His	rs764214258	missense variant	-	NC_000004.12:g.54273632G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr489Ser	RCV000633753	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273638C>G	ClinVar
PDGFRA	P16234	p.Thr489Ser	rs761961392	missense variant	-	NC_000004.12:g.54273638C>G	ExAC,gnomAD
PDGFRA	P16234	p.Ala491Thr	RCV000331094	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54273643G>A	ClinVar
PDGFRA	P16234	p.Ala491Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54273643G>C	NCI-TCGA
PDGFRA	P16234	p.Ala491Thr	rs563016888	missense variant	-	NC_000004.12:g.54273643G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys492Thr	RCV000466474	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273647A>C	ClinVar
PDGFRA	P16234	p.Lys492Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54273648A>C	NCI-TCGA
PDGFRA	P16234	p.Lys492Thr	rs754824764	missense variant	-	NC_000004.12:g.54273647A>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr496Pro	rs778784351	missense variant	-	NC_000004.12:g.54273658A>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr496Ala	rs778784351	missense variant	-	NC_000004.12:g.54273658A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala498Thr	RCV000461815	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273664G>A	ClinVar
PDGFRA	P16234	p.Ala498Thr	rs758137485	missense variant	-	NC_000004.12:g.54273664G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val499Met	rs746574289	missense variant	-	NC_000004.12:g.54273667G>A	ExAC,gnomAD
PDGFRA	P16234	p.Arg500Gln	RCV000702515	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273671G>A	ClinVar
PDGFRA	P16234	p.Arg500Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54273670C>T	NCI-TCGA
PDGFRA	P16234	p.Arg500Leu	COSM734179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273671G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg500Gln	rs1308521786	missense variant	-	NC_000004.12:g.54273671G>A	TOPMed,gnomAD
PDGFRA	P16234	p.Leu502Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54273677T>C	NCI-TCGA
PDGFRA	P16234	p.Ala503Thr	RCV000699709	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273679G>A	ClinVar
PDGFRA	P16234	p.Lys504Arg	rs1352983245	missense variant	-	NC_000004.12:g.54273683A>G	TOPMed
PDGFRA	P16234	p.Leu506Arg	rs746397815	missense variant	-	NC_000004.12:g.54273689T>G	ExAC,gnomAD
PDGFRA	P16234	p.Leu506Arg	RCV000530691	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273689T>G	ClinVar
PDGFRA	P16234	p.Leu506Phe	rs142980928	missense variant	-	NC_000004.12:g.54273688C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu506Ile	COSM4125133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273688C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Leu506Pro	RCV000701493	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273689_54273690delinsCT	ClinVar
PDGFRA	P16234	p.Leu506Pro	rs746397815	missense variant	-	NC_000004.12:g.54273689T>C	ExAC,gnomAD
PDGFRA	P16234	p.Leu507Pro	VAR_066461	Missense	-	-	UniProt
PDGFRA	P16234	p.Gly508Arg	RCV000473836	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273694G>A	ClinVar
PDGFRA	P16234	p.Gly508Arg	rs770129304	missense variant	-	NC_000004.12:g.54273694G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu510Ala	rs775985327	missense variant	-	NC_000004.12:g.54273701A>C	ExAC,gnomAD
PDGFRA	P16234	p.Asn511Lys	rs1553904229	missense variant	-	NC_000004.12:g.54273705C>G	-
PDGFRA	P16234	p.Asn511Lys	RCV000538699	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54273705C>G	ClinVar
PDGFRA	P16234	p.Arg512Gln	rs1174017872	missense variant	-	NC_000004.12:g.54273707G>A	TOPMed
PDGFRA	P16234	p.Glu513Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54273709G>A	NCI-TCGA
PDGFRA	P16234	p.Leu516Met	rs763214177	missense variant	-	NC_000004.12:g.54273718C>A	ExAC,gnomAD
PDGFRA	P16234	p.Val517Met	rs1174270318	missense variant	-	NC_000004.12:g.54273721G>A	TOPMed
PDGFRA	P16234	p.Ala518Ser	rs372546959	missense variant	-	NC_000004.12:g.54273724G>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala518Thr	rs372546959	missense variant	-	NC_000004.12:g.54273724G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Pro519Ser	COSM4399410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54273727C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Thr520Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54273730A>G	NCI-TCGA
PDGFRA	P16234	p.Thr520Ile	rs760659222	missense variant	-	NC_000004.12:g.54274531C>T	ExAC,gnomAD
PDGFRA	P16234	p.Arg522His	RCV000633727	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274537G>A	ClinVar
PDGFRA	P16234	p.Arg522His	rs765271720	missense variant	-	NC_000004.12:g.54274537G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg522Cys	rs974033003	missense variant	-	NC_000004.12:g.54274536C>T	TOPMed
PDGFRA	P16234	p.Ser523Thr	RCV000543488	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274539T>A	ClinVar
PDGFRA	P16234	p.Ser523Thr	rs147733970	missense variant	-	NC_000004.12:g.54274539T>A	ESP,ExAC,gnomAD
PDGFRA	P16234	p.Leu525Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54274545C>A	NCI-TCGA
PDGFRA	P16234	p.Thr526Ter	RCV000633748	frameshift	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274548dup	ClinVar
PDGFRA	P16234	p.Thr526Met	rs904415979	missense variant	-	NC_000004.12:g.54274549C>T	TOPMed,gnomAD
PDGFRA	P16234	p.Val527Ala	RCV000633780	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274552T>C	ClinVar
PDGFRA	P16234	p.Val527Leu	COSM6167426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274551G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val527Met	COSM1056061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274551G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val527Ala	rs1294452177	missense variant	-	NC_000004.12:g.54274552T>C	TOPMed,gnomAD
PDGFRA	P16234	p.Ala528Thr	RCV000633725	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274554G>A	ClinVar
PDGFRA	P16234	p.Ala528Thr	rs763901708	missense variant	-	NC_000004.12:g.54274554G>A	ExAC,gnomAD
PDGFRA	P16234	p.Ala529Val	rs751285566	missense variant	-	NC_000004.12:g.54274558C>T	ExAC,gnomAD
PDGFRA	P16234	p.Leu534Gln	rs767138955	missense variant	-	NC_000004.12:g.54274573T>A	ExAC,gnomAD
PDGFRA	P16234	p.Leu535Phe	RCV000467949	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274577G>T	ClinVar
PDGFRA	P16234	p.Leu535Phe	rs779575357	missense variant	-	NC_000004.12:g.54274577G>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val536Met	rs1265135270	missense variant	-	NC_000004.12:g.54274578G>A	gnomAD
PDGFRA	P16234	p.Ile539Val	RCV000633722	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274587A>G	ClinVar
PDGFRA	P16234	p.Ile539Val	rs866516451	missense variant	-	NC_000004.12:g.54274587A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Ile539Thr	rs1553904366	missense variant	-	NC_000004.12:g.54274588T>C	-
PDGFRA	P16234	p.Ile539Thr	RCV000531966	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274588T>C	ClinVar
PDGFRA	P16234	p.Leu542Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54274597T>G	NCI-TCGA
PDGFRA	P16234	p.Leu542Phe	RCV000469268	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274596C>T	ClinVar
PDGFRA	P16234	p.Leu542Phe	rs1060501522	missense variant	-	NC_000004.12:g.54274596C>T	gnomAD
PDGFRA	P16234	p.Ile543Thr	RCV000544589	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274600T>C	ClinVar
PDGFRA	P16234	p.Ile543Thr	rs755486487	missense variant	-	NC_000004.12:g.54274600T>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val544Gly	RCV000633835	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274603_54274604delinsGT	ClinVar
PDGFRA	P16234	p.Val544Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54274602G>A	NCI-TCGA
PDGFRA	P16234	p.Val544Gly	rs1553904374	missense variant	-	NC_000004.12:g.54274603_54274604delinsGT	-
PDGFRA	P16234	p.Val544Ala	RCV000232812	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274603T>C	ClinVar
PDGFRA	P16234	p.Val544Ala	rs181854060	missense variant	-	NC_000004.12:g.54274603T>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val544Gly	rs181854060	missense variant	-	NC_000004.12:g.54274603T>G	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val546Leu	rs1233146093	missense variant	-	NC_000004.12:g.54274608G>C	TOPMed
PDGFRA	P16234	p.Val547Phe	rs139219072	missense variant	-	NC_000004.12:g.54274611G>T	ESP,ExAC,TOPMed
PDGFRA	P16234	p.Ile548Val	RCV000557487	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274614A>G	ClinVar
PDGFRA	P16234	p.Ile548Phe	rs1060501500	missense variant	-	NC_000004.12:g.54274614A>T	gnomAD
PDGFRA	P16234	p.Ile548Phe	RCV000475283	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274614A>T	ClinVar
PDGFRA	P16234	p.Ile548Val	rs1060501500	missense variant	-	NC_000004.12:g.54274614A>G	gnomAD
PDGFRA	P16234	p.Trp549Ter	rs747156883	stop gained	-	NC_000004.12:g.54274619G>A	ExAC,gnomAD
PDGFRA	P16234	p.Gln551Lys	RCV000764539	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274623C>A	ClinVar
PDGFRA	P16234	p.Gln551Lys	RCV000466521	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274623C>A	ClinVar
PDGFRA	P16234	p.Gln551Glu	RCV000537928	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274623C>G	ClinVar
PDGFRA	P16234	p.Gln551Glu	rs770950644	missense variant	-	NC_000004.12:g.54274623C>G	ExAC,gnomAD
PDGFRA	P16234	p.Gln551Lys	rs770950644	missense variant	-	NC_000004.12:g.54274623C>A	ExAC,gnomAD
PDGFRA	P16234	p.Pro553Leu	rs1060501502	missense variant	-	NC_000004.12:g.54274845C>T	-
PDGFRA	P16234	p.Pro553Leu	RCV000456218	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274845C>T	ClinVar
PDGFRA	P16234	p.Pro553Ser	rs992063980	missense variant	-	NC_000004.12:g.54274844C>T	TOPMed
PDGFRA	P16234	p.Arg554Lys	rs761698258	missense variant	-	NC_000004.12:g.54274848G>A	ExAC,gnomAD
PDGFRA	P16234	p.Arg554Met	rs761698258	missense variant	-	NC_000004.12:g.54274848G>T	ExAC,gnomAD
PDGFRA	P16234	p.Tyr555His	RCV000231170	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274850T>C	ClinVar
PDGFRA	P16234	p.Tyr555Cys	RCV000014511	missense variant	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal (GISTPS)	NC_000004.12:g.54274851A>G	ClinVar
PDGFRA	P16234	p.Tyr555Cys	rs121908589	missense variant	-	NC_000004.12:g.54274851A>G	-
PDGFRA	P16234	p.Tyr555His	rs878854823	missense variant	-	NC_000004.12:g.54274850T>C	-
PDGFRA	P16234	p.Glu556Asp	RCV000633723	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274855A>T	ClinVar
PDGFRA	P16234	p.Glu556Asp	rs1553904439	missense variant	-	NC_000004.12:g.54274855A>T	-
PDGFRA	P16234	p.Glu556Lys	COSM27072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274853G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg558His	RCV000234041	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274860G>A	ClinVar
PDGFRA	P16234	p.Arg558His	rs761924292	missense variant	-	NC_000004.12:g.54274860G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg558Cys	rs765680542	missense variant	-	NC_000004.12:g.54274859C>T	-
PDGFRA	P16234	p.Val561Ala	RCV000437945	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274869T>C	ClinVar
PDGFRA	P16234	p.Val561Asp	RCV000787298	missense variant	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal (GISTPS)	NC_000004.12:g.54274869T>A	ClinVar
PDGFRA	P16234	p.Val561Asp	RCV000014504	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274869T>A	ClinVar
PDGFRA	P16234	p.Val561GluArg	RCV000014506	insertion	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274868_54274869insAGAGGG	ClinVar
PDGFRA	P16234	p.Val561Asp	rs121908586	missense variant	-	NC_000004.12:g.54274869T>A	UniProt,dbSNP
PDGFRA	P16234	p.Val561Asp	VAR_066462	missense variant	-	NC_000004.12:g.54274869T>A	UniProt
PDGFRA	P16234	p.Val561Asp	rs121908586	missense variant	-	NC_000004.12:g.54274869T>A	-
PDGFRA	P16234	p.Ile562Met	VAR_066463	Missense	-	-	UniProt
PDGFRA	P16234	p.Glu563Gln	RCV000458061	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274874G>C	ClinVar
PDGFRA	P16234	p.Glu563Asp	rs753347712	missense variant	-	NC_000004.12:g.54274876A>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu563Gln	rs1060501510	missense variant	-	NC_000004.12:g.54274874G>C	-
PDGFRA	P16234	p.Ile565Val	RCV000687737	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274880A>G	ClinVar
PDGFRA	P16234	p.Ile565Val	rs1178831870	missense variant	-	NC_000004.12:g.54274880A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Ser566Ile	RCV000688905	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274884G>T	ClinVar
PDGFRA	P16234	p.Pro567Gln	rs201503614	missense variant	-	NC_000004.12:g.54274887C>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Pro567Arg	RCV000459085	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274887_54274888delinsGG	ClinVar
PDGFRA	P16234	p.Pro567Leu	RCV000034717	missense variant	-	NC_000004.12:g.54274887C>T	ClinVar
PDGFRA	P16234	p.Pro567Leu	rs201503614	missense variant	-	NC_000004.12:g.54274887C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.His570Tyr	COSM1430083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274895C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.His570Arg	VAR_066464	Missense	-	-	UniProt
PDGFRA	P16234	p.Glu571Lys	COSM447944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274898G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Tyr572Cys	COSM1430084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274902A>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Tyr574Phe	rs924618799	missense variant	-	NC_000004.12:g.54274908A>T	TOPMed
PDGFRA	P16234	p.Val575Leu	rs935967127	missense variant	-	NC_000004.12:g.54274910G>C	TOPMed
PDGFRA	P16234	p.Asp576Ala	rs1215710338	missense variant	-	NC_000004.12:g.54274914A>C	TOPMed,gnomAD
PDGFRA	P16234	p.Pro577Leu	rs778015444	missense variant	-	NC_000004.12:g.54274917C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Pro577Ser	RCV000423704	missense variant	Cutaneous melanoma	NC_000004.12:g.54274916C>T	ClinVar
PDGFRA	P16234	p.Pro577Ser	rs1057519811	missense variant	-	NC_000004.12:g.54274916C>T	-
PDGFRA	P16234	p.Leu580Met	rs143003840	missense variant	-	NC_000004.12:g.54274925C>A	-
PDGFRA	P16234	p.Pro581Ser	rs1435627268	missense variant	-	NC_000004.12:g.54274928C>T	TOPMed,gnomAD
PDGFRA	P16234	p.Asp583Asn	rs745983139	missense variant	-	NC_000004.12:g.54274934G>A	ExAC,gnomAD
PDGFRA	P16234	p.Ser584Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54274938C>A	NCI-TCGA
PDGFRA	P16234	p.Ser584Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54274938C>G	NCI-TCGA
PDGFRA	P16234	p.Arg585Ile	RCV000475013	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54274941G>T	ClinVar
PDGFRA	P16234	p.Arg585Ile	rs1060501505	missense variant	-	NC_000004.12:g.54274941G>T	-
PDGFRA	P16234	p.Gly592Glu	rs1444218873	missense variant	-	NC_000004.12:g.54274962G>A	gnomAD
PDGFRA	P16234	p.Leu593Ile	COSM734176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54274964C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Leu595Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54274970C>T	NCI-TCGA
PDGFRA	P16234	p.Arg597Trp	RCV000528246	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277390C>T	ClinVar
PDGFRA	P16234	p.Arg597Gln	rs999173790	missense variant	-	NC_000004.12:g.54277391G>A	TOPMed,gnomAD
PDGFRA	P16234	p.Arg597Trp	rs1349318035	missense variant	-	NC_000004.12:g.54277390C>T	TOPMed
PDGFRA	P16234	p.Val598Ala	rs757608100	missense variant	-	NC_000004.12:g.54277394T>C	ExAC,gnomAD
PDGFRA	P16234	p.Ala603Val	RCV000540823	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277409C>T	ClinVar
PDGFRA	P16234	p.Ala603Val	rs1553904813	missense variant	-	NC_000004.12:g.54277409C>T	-
PDGFRA	P16234	p.Val608Ala	RCV000696864	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277424T>C	ClinVar
PDGFRA	P16234	p.Val608Ile	RCV000457211	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277423G>A	ClinVar
PDGFRA	P16234	p.Val608Ile	rs138740193	missense variant	-	NC_000004.12:g.54277423G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr611Ile	rs1406857066	missense variant	-	NC_000004.12:g.54277433C>T	TOPMed,gnomAD
PDGFRA	P16234	p.Thr611Arg	RCV000528725	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277433C>G	ClinVar
PDGFRA	P16234	p.Thr611Arg	rs1406857066	missense variant	-	NC_000004.12:g.54277433C>G	TOPMed,gnomAD
PDGFRA	P16234	p.Ala612Thr	rs1290211365	missense variant	-	NC_000004.12:g.54277435G>A	gnomAD
PDGFRA	P16234	p.Gly614Arg	rs1320506684	missense variant	-	NC_000004.12:g.54277441G>A	TOPMed
PDGFRA	P16234	p.Gly614Ala	rs1452541160	missense variant	-	NC_000004.12:g.54277442G>C	gnomAD
PDGFRA	P16234	p.Leu615Ile	rs1382903773	missense variant	-	NC_000004.12:g.54277444T>A	TOPMed
PDGFRA	P16234	p.Ser616Arg	RCV000457492	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277449C>G	ClinVar
PDGFRA	P16234	p.Ser616Arg	rs780111998	missense variant	-	NC_000004.12:g.54277449C>G	ExAC,gnomAD
PDGFRA	P16234	p.Arg617Trp	RCV000228510	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277450C>T	ClinVar
PDGFRA	P16234	p.Arg617Gln	RCV000553651	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277451G>A	ClinVar
PDGFRA	P16234	p.Arg617Pro	rs377318745	missense variant	-	NC_000004.12:g.54277451G>C	ESP,TOPMed,gnomAD
PDGFRA	P16234	p.Arg617Gln	rs377318745	missense variant	-	NC_000004.12:g.54277451G>A	ESP,TOPMed,gnomAD
PDGFRA	P16234	p.Arg617Gly	rs878854825	missense variant	-	NC_000004.12:g.54277450C>G	gnomAD
PDGFRA	P16234	p.Arg617Trp	rs878854825	missense variant	-	NC_000004.12:g.54277450C>T	gnomAD
PDGFRA	P16234	p.Gln619Arg	RCV000530086	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277457A>G	ClinVar
PDGFRA	P16234	p.Gln619Arg	rs1553904833	missense variant	-	NC_000004.12:g.54277457A>G	-
PDGFRA	P16234	p.Pro620Ser	rs749366763	missense variant	-	NC_000004.12:g.54277459C>T	ExAC,gnomAD
PDGFRA	P16234	p.Met622Leu	RCV000633761	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277465A>T	ClinVar
PDGFRA	P16234	p.Met622Leu	rs774507815	missense variant	-	NC_000004.12:g.54277465A>T	gnomAD
PDGFRA	P16234	p.Val626Ala	COSM1056065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277478T>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val626Met	COSM1056063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277477G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Lys627Asn	COSM4853571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277482G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Lys630Thr	COSM1056067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277490A>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Pro631Ser	RCV000231363	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277492C>T	ClinVar
PDGFRA	P16234	p.Pro631Ser	RCV000405809	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54277492C>T	ClinVar
PDGFRA	P16234	p.Pro631Ser	rs199902153	missense variant	-	NC_000004.12:g.54277492C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr632Met	RCV000555045	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277899C>T	ClinVar
PDGFRA	P16234	p.Thr632Met	rs572964298	missense variant	-	NC_000004.12:g.54277899C>T	ExAC,gnomAD
PDGFRA	P16234	p.Arg634Ser	rs778818973	missense variant	-	NC_000004.12:g.54277906A>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gln639Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54277920A>G	NCI-TCGA
PDGFRA	P16234	p.Ala640Ser	rs1397203869	missense variant	-	NC_000004.12:g.54277922G>T	gnomAD
PDGFRA	P16234	p.Met642Ile	RCV000560051	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277930G>A	ClinVar
PDGFRA	P16234	p.Met642Ile	rs1553904882	missense variant	-	NC_000004.12:g.54277930G>A	-
PDGFRA	P16234	p.Thr649Ser	rs746991341	missense variant	-	NC_000004.12:g.54277949A>T	ExAC,gnomAD
PDGFRA	P16234	p.His650Gln	VAR_066465	Missense	-	-	UniProt
PDGFRA	P16234	p.His654Gln	rs745658205	missense variant	-	NC_000004.12:g.54277966T>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.His654Asn	rs377159519	missense variant	-	NC_000004.12:g.54277964C>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu655Phe	COSM3409362	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277969G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Leu655Val	rs1279735973	missense variant	-	NC_000004.12:g.54277967T>G	TOPMed
PDGFRA	P16234	p.Ile657Thr	rs969139366	missense variant	-	NC_000004.12:g.54277974T>C	TOPMed,gnomAD
PDGFRA	P16234	p.Val658Ala	RCV000434301	missense variant	Cutaneous melanoma	NC_000004.12:g.54277977T>C	ClinVar
PDGFRA	P16234	p.Val658Ala	rs1057519812	missense variant	-	NC_000004.12:g.54277977T>C	-
PDGFRA	P16234	p.Asn659Lys	RCV000429785	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277981C>G	ClinVar
PDGFRA	P16234	p.Asn659Lys	RCV000419062	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54277981C>A	ClinVar
PDGFRA	P16234	p.Asn659Lys	rs1057519700	missense variant	-	NC_000004.12:g.54277981C>G	-
PDGFRA	P16234	p.Asn659Lys	rs1057519700	missense variant	-	NC_000004.12:g.54277981C>A	-
PDGFRA	P16234	p.Asn659Ser	VAR_066467	Missense	-	-	UniProt
PDGFRA	P16234	p.Leu660Phe	rs779818520	missense variant	-	NC_000004.12:g.54277984G>T	ExAC
PDGFRA	P16234	p.Gly662Arg	COSM3604507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54277988G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Pro669Ser	rs768124156	missense variant	-	NC_000004.12:g.54278364C>T	ExAC
PDGFRA	P16234	p.Ile670Val	RCV000633749	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278367A>G	ClinVar
PDGFRA	P16234	p.Ile670Val	rs1553904985	missense variant	-	NC_000004.12:g.54278367A>G	-
PDGFRA	P16234	p.Thr674Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54278379A>C	NCI-TCGA
PDGFRA	P16234	p.Thr674Ile	RCV000014509	missense variant	Hypereosinophilic syndrome, idiopathic, resistant to imatinib	NC_000004.12:g.54278380C>T	ClinVar
PDGFRA	P16234	p.Thr674Ile	rs121908587	missense variant	-	NC_000004.12:g.54278380C>T	-
PDGFRA	P16234	p.Glu675Gln	COSM1310132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278382G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu675Asp	rs778551529	missense variant	-	NC_000004.12:g.54278384G>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Tyr676His	rs747598419	missense variant	-	NC_000004.12:g.54278385T>C	ExAC,gnomAD
PDGFRA	P16234	p.Cys677Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54278389G>A	NCI-TCGA
PDGFRA	P16234	p.Phe678Leu	COSM257700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278393C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Tyr679Cys	rs772617321	missense variant	-	NC_000004.12:g.54278395A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Tyr679His	rs1312160226	missense variant	-	NC_000004.12:g.54278394T>C	TOPMed
PDGFRA	P16234	p.Gly680Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54278398G>A	NCI-TCGA
PDGFRA	P16234	p.Asp681Tyr	COSM3428551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278400G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asp681Asn	COSM1056069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278400G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val683Ala	rs761133809	missense variant	-	NC_000004.12:g.54278407T>C	ExAC,gnomAD
PDGFRA	P16234	p.Asn684Lys	rs1377060380	missense variant	-	NC_000004.12:g.54278411C>G	gnomAD
PDGFRA	P16234	p.Asn689Tyr	rs1284453963	missense variant	-	NC_000004.12:g.54278424A>T	gnomAD
PDGFRA	P16234	p.Arg690Met	rs1344375373	missense variant	-	NC_000004.12:g.54278428G>T	TOPMed,gnomAD
PDGFRA	P16234	p.Asp691Asn	COSM3917928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278430G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ser692Asn	RCV000474034	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278434G>A	ClinVar
PDGFRA	P16234	p.Ser692Asn	rs371065167	missense variant	-	NC_000004.12:g.54278434G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Phe693Tyr	rs1377466927	missense variant	-	NC_000004.12:g.54278437T>A	TOPMed
PDGFRA	P16234	p.Ser695Asn	rs1400502000	missense variant	-	NC_000004.12:g.54278443G>A	gnomAD
PDGFRA	P16234	p.His696Tyr	RCV000694448	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278445C>T	ClinVar
PDGFRA	P16234	p.His696Gln	rs765377444	missense variant	-	NC_000004.12:g.54278447C>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys702Glu	rs1262195275	missense variant	-	NC_000004.12:g.54278463A>G	gnomAD
PDGFRA	P16234	p.Lys702Met	COSM3604508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54278464A>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Lys702Arg	rs1388944809	missense variant	-	NC_000004.12:g.54278464A>G	gnomAD
PDGFRA	P16234	p.Glu704Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.54278469G>T	NCI-TCGA
PDGFRA	P16234	p.Glu704Asp	rs752884270	missense variant	-	NC_000004.12:g.54278471G>T	ExAC,gnomAD
PDGFRA	P16234	p.Leu705Val	rs763091995	missense variant	-	NC_000004.12:g.54278472C>G	ExAC,gnomAD
PDGFRA	P16234	p.Leu705Pro	VAR_066468	Missense	-	-	UniProt
PDGFRA	P16234	p.Asp706Gly	rs764225560	missense variant	-	NC_000004.12:g.54278476A>G	ExAC,gnomAD
PDGFRA	P16234	p.Asp706Asn	rs1221698264	missense variant	-	NC_000004.12:g.54278475G>A	gnomAD
PDGFRA	P16234	p.Ile707Val	rs1318827602	missense variant	-	NC_000004.12:g.54278478A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Phe708Ser	RCV000549924	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278482T>C	ClinVar
PDGFRA	P16234	p.Phe708Ser	rs781356492	missense variant	-	NC_000004.12:g.54278482T>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn711Asp	RCV000472227	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278490A>G	ClinVar
PDGFRA	P16234	p.Asn711Ser	RCV000526062	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278491A>G	ClinVar
PDGFRA	P16234	p.Asn711Ser	rs1553905039	missense variant	-	NC_000004.12:g.54278491A>G	-
PDGFRA	P16234	p.Asn711Asp	rs756055115	missense variant	-	NC_000004.12:g.54278490A>G	ExAC,gnomAD
PDGFRA	P16234	p.Pro712Thr	rs779902846	missense variant	-	NC_000004.12:g.54278493C>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Pro712Ala	rs779902846	missense variant	-	NC_000004.12:g.54278493C>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala713Thr	rs1191626640	missense variant	-	NC_000004.12:g.54278496G>A	gnomAD
PDGFRA	P16234	p.Asp714Val	RCV000697609	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278500A>T	ClinVar
PDGFRA	P16234	p.Ser716Arg	RCV000633752	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278505A>C	ClinVar
PDGFRA	P16234	p.Ser716Arg	rs778408083	missense variant	-	NC_000004.12:g.54278507C>A	ExAC,TOPMed
PDGFRA	P16234	p.Ser716Asn	rs754717420	missense variant	-	NC_000004.12:g.54278506G>A	ExAC,gnomAD
PDGFRA	P16234	p.Ser716Arg	RCV000633747	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278507C>A	ClinVar
PDGFRA	P16234	p.Ser716Arg	rs1553905049	missense variant	-	NC_000004.12:g.54278505A>C	-
PDGFRA	P16234	p.Thr717Ile	RCV000537781	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278509C>T	ClinVar
PDGFRA	P16234	p.Thr717Ile	rs1553905051	missense variant	-	NC_000004.12:g.54278509C>T	-
PDGFRA	P16234	p.Arg718Trp	RCV000550425	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278511C>T	ClinVar
PDGFRA	P16234	p.Arg718Trp	rs375434317	missense variant	-	NC_000004.12:g.54278511C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg718Gln	RCV000461680	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54278512G>A	ClinVar
PDGFRA	P16234	p.Arg718Gln	rs367722824	missense variant	-	NC_000004.12:g.54278512G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Tyr720Ser	rs1352839721	missense variant	-	NC_000004.12:g.54280318A>C	gnomAD
PDGFRA	P16234	p.Ile722Phe	RCV000556276	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280323A>T	ClinVar
PDGFRA	P16234	p.Ile722Phe	rs1553905278	missense variant	-	NC_000004.12:g.54280323A>T	-
PDGFRA	P16234	p.Glu726Gln	RCV000633728	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280335G>C	ClinVar
PDGFRA	P16234	p.Glu726Gln	rs1553905281	missense variant	-	NC_000004.12:g.54280335G>C	-
PDGFRA	P16234	p.Gly729Val	COSM4125136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54280345G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly729Asp	rs1458825658	missense variant	-	NC_000004.12:g.54280345G>A	gnomAD
PDGFRA	P16234	p.Met732Val	RCV000527659	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280353A>G	ClinVar
PDGFRA	P16234	p.Met732Val	rs749523527	missense variant	-	NC_000004.12:g.54280353A>G	ExAC,gnomAD
PDGFRA	P16234	p.Met732Thr	rs768993267	missense variant	-	NC_000004.12:g.54280354T>C	ExAC,gnomAD
PDGFRA	P16234	p.Met734Thr	rs774628734	missense variant	-	NC_000004.12:g.54280360T>C	ExAC,gnomAD
PDGFRA	P16234	p.Asp738Tyr	rs1370672831	missense variant	-	NC_000004.12:g.54280371G>T	TOPMed
PDGFRA	P16234	p.Thr739Ala	rs766379425	missense variant	-	NC_000004.12:g.54280374A>G	ExAC,gnomAD
PDGFRA	P16234	p.Thr739Ile	rs1175465507	missense variant	-	NC_000004.12:g.54280375C>T	gnomAD
PDGFRA	P16234	p.Thr740Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54280377A>G	NCI-TCGA
PDGFRA	P16234	p.Gln741Arg	rs141704268	missense variant	-	NC_000004.12:g.54280381A>G	ESP,ExAC
PDGFRA	P16234	p.Val743Ala	COSM4125137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54280387T>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val743Ile	rs764957750	missense variant	-	NC_000004.12:g.54280386G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Pro744Ser	RCV000229967	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280389C>T	ClinVar
PDGFRA	P16234	p.Pro744Ser	rs61735626	missense variant	-	NC_000004.12:g.54280389C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Met745Thr	rs1368223217	missense variant	-	NC_000004.12:g.54280393T>C	gnomAD
PDGFRA	P16234	p.Met745Ile	rs763727620	missense variant	-	NC_000004.12:g.54280394G>T	ExAC,gnomAD
PDGFRA	P16234	p.Arg748Lys	COSM3604509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54280402G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg748Gly	VAR_066469	Missense	-	-	UniProt
PDGFRA	P16234	p.Lys749Gln	rs1260734299	missense variant	-	NC_000004.12:g.54280404A>C	gnomAD
PDGFRA	P16234	p.Glu750Asp	rs751123873	missense variant	-	NC_000004.12:g.54280409G>T	ExAC,gnomAD
PDGFRA	P16234	p.Ser752Phe	RCV000633829	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280414C>T	ClinVar
PDGFRA	P16234	p.Ser752Phe	rs1553905300	missense variant	-	NC_000004.12:g.54280414C>T	-
PDGFRA	P16234	p.Tyr754His	rs536663502	missense variant	-	NC_000004.12:g.54280419T>C	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Tyr754His	RCV000468730	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280419T>C	ClinVar
PDGFRA	P16234	p.Ser755Phe	rs139465754	missense variant	-	NC_000004.12:g.54280423C>T	ESP,ExAC,TOPMed
PDGFRA	P16234	p.Ser755Pro	rs780701113	missense variant	-	NC_000004.12:g.54280422T>C	ExAC,gnomAD
PDGFRA	P16234	p.Asp756Asn	RCV000314872	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280425G>A	ClinVar
PDGFRA	P16234	p.Asp756Asn	rs555347387	missense variant	-	NC_000004.12:g.54280425G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile757Phe	rs769048345	missense variant	-	NC_000004.12:g.54280428A>T	ExAC,gnomAD
PDGFRA	P16234	p.Arg759Ser	rs1198732249	missense variant	-	NC_000004.12:g.54280436A>T	gnomAD
PDGFRA	P16234	p.Ser760Pro	rs779246705	missense variant	-	NC_000004.12:g.54280437T>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu761Arg	RCV000121785	missense variant	-	NC_000004.12:g.54280441T>G	ClinVar
PDGFRA	P16234	p.Leu761Phe	rs748362104	missense variant	-	NC_000004.12:g.54280440C>T	ExAC
PDGFRA	P16234	p.Leu761Arg	rs148654387	missense variant	-	NC_000004.12:g.54280441T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Tyr762Cys	rs1171641135	missense variant	-	NC_000004.12:g.54280444A>G	gnomAD
PDGFRA	P16234	p.Asp763Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54280447A>G	NCI-TCGA
PDGFRA	P16234	p.Asp763Glu	rs1396132478	missense variant	-	NC_000004.12:g.54280448T>A	gnomAD
PDGFRA	P16234	p.Arg764His	RCV000532726	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280450G>A	ClinVar
PDGFRA	P16234	p.Arg764Cys	RCV000633714	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280449C>T	ClinVar
PDGFRA	P16234	p.Arg764His	rs141047712	missense variant	-	NC_000004.12:g.54280450G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg764Cys	rs34392012	missense variant	-	NC_000004.12:g.54280449C>T	TOPMed
PDGFRA	P16234	p.Pro765Thr	rs1325295795	missense variant	-	NC_000004.12:g.54280452C>A	gnomAD
PDGFRA	P16234	p.Tyr768Cys	rs61735625	missense variant	-	NC_000004.12:g.54280462A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys769Met	RCV000121783	missense variant	-	NC_000004.12:g.54280465A>T	ClinVar
PDGFRA	P16234	p.Lys769Arg	RCV000553089	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280465A>G	ClinVar
PDGFRA	P16234	p.Lys769Met	rs373061721	missense variant	-	NC_000004.12:g.54280465A>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys769Arg	rs373061721	missense variant	-	NC_000004.12:g.54280465A>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys770Glu	rs1248440566	missense variant	-	NC_000004.12:g.54280467A>G	TOPMed
PDGFRA	P16234	p.Lys770Asn	COSM176716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54280469G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Met773Val	RCV000529522	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54280476A>G	ClinVar
PDGFRA	P16234	p.Met773Val	rs191808397	missense variant	-	NC_000004.12:g.54280476A>G	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser776Ala	RCV000633839	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285373T>G	ClinVar
PDGFRA	P16234	p.Ser776Ala	rs1553905944	missense variant	-	NC_000004.12:g.54285373T>G	-
PDGFRA	P16234	p.Glu777Gly	rs1427951828	missense variant	-	NC_000004.12:g.54285377A>G	gnomAD
PDGFRA	P16234	p.Val778Ala	rs1479198937	missense variant	-	NC_000004.12:g.54285380T>C	gnomAD
PDGFRA	P16234	p.Val778Phe	rs200808048	missense variant	-	NC_000004.12:g.54285379G>T	gnomAD
PDGFRA	P16234	p.Val778Ile	rs200808048	missense variant	-	NC_000004.12:g.54285379G>A	gnomAD
PDGFRA	P16234	p.Lys779Asn	rs1553905957	missense variant	-	NC_000004.12:g.54285384A>C	-
PDGFRA	P16234	p.Lys779Asn	RCV000633812	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285384A>C	ClinVar
PDGFRA	P16234	p.Asn780ThrPheSerTerUnkUnk	COSM267157	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54285382A>-	NCI-TCGA Cosmic
PDGFRA	P16234	p.Leu781Phe	rs757362953	missense variant	-	NC_000004.12:g.54285388C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu781Ile	rs757362953	missense variant	-	NC_000004.12:g.54285388C>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser783Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54285395C>T	NCI-TCGA
PDGFRA	P16234	p.Asp784Tyr	RCV000546903	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285397G>T	ClinVar
PDGFRA	P16234	p.Asp784Tyr	rs1553905962	missense variant	-	NC_000004.12:g.54285397G>T	-
PDGFRA	P16234	p.Asp785Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54285400G>T	NCI-TCGA
PDGFRA	P16234	p.Asp785Gly	RCV000559472	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285401A>G	ClinVar
PDGFRA	P16234	p.Asp785Gly	rs1553905964	missense variant	-	NC_000004.12:g.54285401A>G	-
PDGFRA	P16234	p.Asn786Asp	rs1351841980	missense variant	-	NC_000004.12:g.54285403A>G	TOPMed
PDGFRA	P16234	p.Ser787Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54285406T>A	NCI-TCGA
PDGFRA	P16234	p.Glu788Ter	COSM1056076	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54285409G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu788Lys	rs536062496	missense variant	-	NC_000004.12:g.54285409G>A	1000Genomes,ExAC,gnomAD
PDGFRA	P16234	p.Gly789Asp	RCV000535371	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285413G>A	ClinVar
PDGFRA	P16234	p.Gly789Asp	rs555553917	missense variant	-	NC_000004.12:g.54285413G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu790Phe	rs771661933	missense variant	-	NC_000004.12:g.54285415C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu790Pro	COSM3604510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285416T>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asp794Asn	RCV000688767	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285427G>A	ClinVar
PDGFRA	P16234	p.Asp794Gly	rs1195815525	missense variant	-	NC_000004.12:g.54285428A>G	TOPMed
PDGFRA	P16234	p.Phe798Leu	COSM6167425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285441C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Thr799Ala	rs1221831022	missense variant	-	NC_000004.12:g.54285442A>G	gnomAD
PDGFRA	P16234	p.Thr799Ile	rs772948645	missense variant	-	NC_000004.12:g.54285443C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val802Phe	RCV000700093	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285451G>T	ClinVar
PDGFRA	P16234	p.Arg804ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54285454_54285455insC	NCI-TCGA
PDGFRA	P16234	p.Arg804Gln	RCV000475433	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285458G>A	ClinVar
PDGFRA	P16234	p.Arg804Gln	rs571523023	missense variant	-	NC_000004.12:g.54285458G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg804Ter	rs1242960071	stop gained	-	NC_000004.12:g.54285457C>T	gnomAD
PDGFRA	P16234	p.Met806Ile	rs867690523	missense variant	-	NC_000004.12:g.54285465G>A	TOPMed
PDGFRA	P16234	p.Glu807GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54285467A>-	NCI-TCGA
PDGFRA	P16234	p.Glu807Lys	rs776215616	missense variant	-	NC_000004.12:g.54285466G>A	ExAC
PDGFRA	P16234	p.Phe808Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54285471T>G	NCI-TCGA
PDGFRA	P16234	p.Asn813His	RCV000633754	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285484A>C	ClinVar
PDGFRA	P16234	p.Asn813His	rs1210337394	missense variant	-	NC_000004.12:g.54285484A>C	gnomAD
PDGFRA	P16234	p.Val815Ala	COSM1056078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285845T>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg817Gly	RCV000560803	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285850C>G	ClinVar
PDGFRA	P16234	p.Arg817Gly	rs776099721	missense variant	-	NC_000004.12:g.54285850C>G	ExAC,gnomAD
PDGFRA	P16234	p.Arg817Cys	rs776099721	missense variant	-	NC_000004.12:g.54285850C>T	ExAC,gnomAD
PDGFRA	P16234	p.Leu819Arg	COSM4923857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285857T>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg822Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54285866G>T	NCI-TCGA
PDGFRA	P16234	p.Arg822Cys	COSM5772696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285865C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg822His	rs763325080	missense variant	-	NC_000004.12:g.54285866G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val824Ile	RCV000464549	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285871G>A	ClinVar
PDGFRA	P16234	p.Val824Ile	rs370600501	missense variant	-	NC_000004.12:g.54285871G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu826Pro	COSM5966957	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285878T>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ala827Val	rs750553538	missense variant	-	NC_000004.12:g.54285881C>T	ExAC,gnomAD
PDGFRA	P16234	p.Gln828Arg	RCV000206751	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285884A>G	ClinVar
PDGFRA	P16234	p.Gln828Arg	rs756209197	missense variant	-	NC_000004.12:g.54285884A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gly829Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54285887G>T	NCI-TCGA
PDGFRA	P16234	p.Gly829Arg	VAR_042035	Missense	-	-	UniProt
PDGFRA	P16234	p.Ile831Thr	rs779958669	missense variant	-	NC_000004.12:g.54285893T>C	ExAC,gnomAD
PDGFRA	P16234	p.Val832Met	rs1315803700	missense variant	-	NC_000004.12:g.54285895G>A	gnomAD
PDGFRA	P16234	p.Asp836Glu	COSM734175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285909C>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Phe837Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54285911T>C	NCI-TCGA
PDGFRA	P16234	p.Arg841Lys	RCV000443097	missense variant	Cutaneous melanoma	NC_000004.12:g.54285923G>A	ClinVar
PDGFRA	P16234	p.Arg841Lys	rs1057519813	missense variant	-	NC_000004.12:g.54285923G>A	-
PDGFRA	P16234	p.Asp842Val	RCV000014501	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285926A>T	ClinVar
PDGFRA	P16234	p.Asp842Tyr	RCV000439137	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285925G>T	ClinVar
PDGFRA	P16234	p.Asp842Ile	RCV000437652	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285925_54285926delinsAT	ClinVar
PDGFRA	P16234	p.Asp842Tyr	rs121913265	missense variant	-	NC_000004.12:g.54285925G>T	UniProt,dbSNP
PDGFRA	P16234	p.Asp842Tyr	VAR_066472	missense variant	-	NC_000004.12:g.54285925G>T	UniProt
PDGFRA	P16234	p.Asp842Tyr	rs121913265	missense variant	-	NC_000004.12:g.54285925G>T	-
PDGFRA	P16234	p.Asp842Val	rs121908585	missense variant	-	NC_000004.12:g.54285926A>T	UniProt,dbSNP
PDGFRA	P16234	p.Asp842Val	VAR_066471	missense variant	-	NC_000004.12:g.54285926A>T	UniProt
PDGFRA	P16234	p.Asp842Val	rs121908585	missense variant	-	NC_000004.12:g.54285926A>T	-
PDGFRA	P16234	p.Asp842Ile	rs121913264	missense variant	-	NC_000004.12:g.54285925_54285926delinsAT	-
PDGFRA	P16234	p.Asp842_His845del	VAR_066470	inframe_deletion	-	-	UniProt
PDGFRA	P16234	p.Met844Thr	rs758210670	missense variant	-	NC_000004.12:g.54285932T>C	ExAC,gnomAD
PDGFRA	P16234	p.His845Arg	RCV000456448	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285935A>G	ClinVar
PDGFRA	P16234	p.His845Tyr	RCV000427776	missense variant	Cutaneous melanoma	NC_000004.12:g.54285934C>T	ClinVar
PDGFRA	P16234	p.His845Tyr	rs1057519814	missense variant	-	NC_000004.12:g.54285934C>T	-
PDGFRA	P16234	p.His845Arg	rs777679907	missense variant	-	NC_000004.12:g.54285935A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.His845_Asn848del	VAR_066473	inframe_deletion	-	-	UniProt
PDGFRA	P16234	p.Asp846Tyr	rs121908588	missense variant	-	NC_000004.12:g.54285937G>T	-
PDGFRA	P16234	p.Asp846Tyr	RCV000442350	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285937G>T	ClinVar
PDGFRA	P16234	p.Asp846Gly	COSM3974939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54285938A>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ser847Leu	RCV000633756	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285941C>T	ClinVar
PDGFRA	P16234	p.Ser847Leu	rs377487797	missense variant	-	NC_000004.12:g.54285941C>T	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn848Phe	NCI-TCGA novel	insertion	-	NC_000004.12:g.54285945_54285946insTTT	NCI-TCGA
PDGFRA	P16234	p.Tyr849Ser	VAR_066475	Missense	-	-	UniProt
PDGFRA	P16234	p.Tyr849Cys	VAR_066474	Missense	Gastrointestinal stromal tumor (GIST) [MIM:606764]	-	UniProt
PDGFRA	P16234	p.Val850Met	RCV000705889	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285949G>A	ClinVar
PDGFRA	P16234	p.Val850Ala	rs1409442871	missense variant	-	NC_000004.12:g.54285950T>C	gnomAD
PDGFRA	P16234	p.Ser851Leu	rs745464928	missense variant	-	NC_000004.12:g.54285953C>T	ExAC,gnomAD
PDGFRA	P16234	p.Gly853Asp	RCV000433255	missense variant	Cutaneous melanoma	NC_000004.12:g.54285959G>A	ClinVar
PDGFRA	P16234	p.Gly853Ala	rs763576329	missense variant	-	NC_000004.12:g.54285959G>C	ExAC,gnomAD
PDGFRA	P16234	p.Gly853Asp	rs763576329	missense variant	-	NC_000004.12:g.54285959G>A	ExAC,gnomAD
PDGFRA	P16234	p.Ser854Arg	RCV000633794	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54285963T>A	ClinVar
PDGFRA	P16234	p.Ser854Arg	rs1164252451	missense variant	-	NC_000004.12:g.54285963T>A	TOPMed
PDGFRA	P16234	p.Thr855Asn	rs1222441176	missense variant	-	NC_000004.12:g.54287431C>A	gnomAD
PDGFRA	P16234	p.Pro858Leu	rs1280900050	missense variant	-	NC_000004.12:g.54287440C>T	gnomAD
PDGFRA	P16234	p.Val859Met	RCV000467678	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54287442G>A	ClinVar
PDGFRA	P16234	p.Val859Met	rs1060501520	missense variant	-	NC_000004.12:g.54287442G>A	NCI-TCGA
PDGFRA	P16234	p.Val859Met	rs1060501520	missense variant	-	NC_000004.12:g.54287442G>A	TOPMed,gnomAD
PDGFRA	P16234	p.Lys860Arg	rs762269030	missense variant	-	NC_000004.12:g.54287446A>G	ExAC,gnomAD
PDGFRA	P16234	p.Met862Ile	rs1156961134	missense variant	-	NC_000004.12:g.54287453G>A	TOPMed
PDGFRA	P16234	p.Ala863Ser	rs1262796345	missense variant	-	NC_000004.12:g.54287454G>T	TOPMed,gnomAD
PDGFRA	P16234	p.Asn870Ser	RCV000633842	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54287476A>G	ClinVar
PDGFRA	P16234	p.Asn870Ser	rs1553906267	missense variant	-	NC_000004.12:g.54287476A>G	-
PDGFRA	P16234	p.Tyr872Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54287481T>G	NCI-TCGA
PDGFRA	P16234	p.Thr873Asn	COSM6167422	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54287485C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ile883Val	RCV000475723	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54287514A>G	ClinVar
PDGFRA	P16234	p.Ile883Val	rs776811374	missense variant	-	NC_000004.12:g.54287514A>G	ExAC,gnomAD
PDGFRA	P16234	p.Leu885Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54287520C>G	NCI-TCGA
PDGFRA	P16234	p.Leu885Phe	COSM283927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54287520C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ile888Asn	COSM3604512	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54287530T>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Phe889Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54287532T>G	NCI-TCGA
PDGFRA	P16234	p.Ser890Phe	COSM131789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54287536C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Leu891Phe	rs759510574	missense variant	-	NC_000004.12:g.54287538C>T	NCI-TCGA
PDGFRA	P16234	p.Leu891Phe	rs759510574	missense variant	-	NC_000004.12:g.54287538C>T	ExAC,gnomAD
PDGFRA	P16234	p.Thr894Asn	RCV000633818	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288805C>A	ClinVar
PDGFRA	P16234	p.Thr894Asn	rs1194156035	missense variant	-	NC_000004.12:g.54288805C>A	gnomAD
PDGFRA	P16234	p.Pro895LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54288805C>-	NCI-TCGA
PDGFRA	P16234	p.Pro895Leu	COSM3604513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288808C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Pro897Ser	RCV000633751	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288813C>T	ClinVar
PDGFRA	P16234	p.Pro897Ser	rs1435679141	missense variant	-	NC_000004.12:g.54288813C>T	TOPMed
PDGFRA	P16234	p.Gly898Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54288817G>A	NCI-TCGA
PDGFRA	P16234	p.Gly898Ser	rs1185214354	missense variant	-	NC_000004.12:g.54288816G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly898Ser	rs1185214354	missense variant	-	NC_000004.12:g.54288816G>A	TOPMed,gnomAD
PDGFRA	P16234	p.Met900Leu	RCV000531676	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288822A>T	ClinVar
PDGFRA	P16234	p.Met900Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54288823T>A	NCI-TCGA
PDGFRA	P16234	p.Met900Leu	rs1553906446	missense variant	-	NC_000004.12:g.54288822A>T	-
PDGFRA	P16234	p.Thr904Ile	RCV000464018	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288835C>T	ClinVar
PDGFRA	P16234	p.Thr904Ile	rs778327861	missense variant	-	NC_000004.12:g.54288835C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn907Thr	COSM3604515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288844A>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asn907Ser	RCV000688106	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288844A>G	ClinVar
PDGFRA	P16234	p.Lys908Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54288847A>C	NCI-TCGA
PDGFRA	P16234	p.Lys908Glu	RCV000695984	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288846A>G	ClinVar
PDGFRA	P16234	p.Lys908Gln	rs1161645651	missense variant	-	NC_000004.12:g.54288846A>C	gnomAD
PDGFRA	P16234	p.Ile909Phe	RCV000470216	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288849A>T	ClinVar
PDGFRA	P16234	p.Ile909Phe	rs1060501509	missense variant	-	NC_000004.12:g.54288849A>T	-
PDGFRA	P16234	p.Lys910Arg	rs1400850021	missense variant	-	NC_000004.12:g.54288853A>G	gnomAD
PDGFRA	P16234	p.Ser911Ile	RCV000707719	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288856G>T	ClinVar
PDGFRA	P16234	p.Ser911Asn	rs1317114941	missense variant	-	NC_000004.12:g.54288856G>A	gnomAD
PDGFRA	P16234	p.Gly912Trp	COSM6167421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288858G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly912Ala	COSM1430092	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288859G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Tyr913Ter	rs1324332329	stop gained	-	NC_000004.12:g.54288863C>G	gnomAD
PDGFRA	P16234	p.Arg914Leu	rs1428997941	missense variant	-	NC_000004.12:g.54288865G>T	gnomAD
PDGFRA	P16234	p.Arg914Gln	RCV000633744	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288865G>A	ClinVar
PDGFRA	P16234	p.Arg914Trp	RCV000694935	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288864C>T	ClinVar
PDGFRA	P16234	p.Arg914Gln	rs1428997941	missense variant	-	NC_000004.12:g.54288865G>A	gnomAD
PDGFRA	P16234	p.Ala916Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54288870G>A	NCI-TCGA
PDGFRA	P16234	p.Ala916Asp	rs1403858596	missense variant	-	NC_000004.12:g.54288871C>A	TOPMed
PDGFRA	P16234	p.Asp919Gly	rs1245859165	missense variant	-	NC_000004.12:g.54288880A>G	gnomAD
PDGFRA	P16234	p.Asp919Glu	RCV000702390	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288881C>G	ClinVar
PDGFRA	P16234	p.Ala921Gly	COSM6167420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54288886C>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Thr922Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54288888A>G	NCI-TCGA
PDGFRA	P16234	p.Thr922Ser	rs977162554	missense variant	-	NC_000004.12:g.54288889C>G	TOPMed
PDGFRA	P16234	p.Thr922Pro	RCV000693186	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288888A>C	ClinVar
PDGFRA	P16234	p.Ser923Thr	RCV000458566	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54288892G>C	ClinVar
PDGFRA	P16234	p.Ser923Thr	rs1060501511	missense variant	-	NC_000004.12:g.54288892G>C	-
PDGFRA	P16234	p.Glu927Lys	rs267600187	missense variant	-	NC_000004.12:g.54289013G>A	NCI-TCGA
PDGFRA	P16234	p.Glu927Asp	rs759251401	missense variant	-	NC_000004.12:g.54289015G>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu927Lys	rs267600187	missense variant	-	NC_000004.12:g.54289013G>A	-
PDGFRA	P16234	p.Ile928Met	RCV000532019	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54289018C>G	ClinVar
PDGFRA	P16234	p.Ile928Phe	COSM1430093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289016A>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ile928Met	rs764838149	missense variant	-	NC_000004.12:g.54289018C>G	ExAC,gnomAD
PDGFRA	P16234	p.Ser935Arg	rs1553906487	missense variant	-	NC_000004.12:g.54289039T>G	-
PDGFRA	P16234	p.Ser935Arg	RCV000544490	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54289039T>G	ClinVar
PDGFRA	P16234	p.Glu936Ter	COSM6167419	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54289040G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Pro937Ala	COSM481338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289043C>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu938Gln	rs1328843460	missense variant	-	NC_000004.12:g.54289046G>C	gnomAD
PDGFRA	P16234	p.Lys939Asn	COSM1430095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289051G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg940ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.54289051_54289052insGTGGATTCTACTTTCTACAATA	NCI-TCGA
PDGFRA	P16234	p.Arg940Lys	rs1344020042	missense variant	-	NC_000004.12:g.54289053G>A	TOPMed
PDGFRA	P16234	p.Pro941His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54289056C>A	NCI-TCGA
PDGFRA	P16234	p.Ser942Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54289058T>C	NCI-TCGA
PDGFRA	P16234	p.His945Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54289067C>T	NCI-TCGA
PDGFRA	P16234	p.Ser947Thr	COSM3409363	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289074G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ser947Asn	rs1284091709	missense variant	-	NC_000004.12:g.54289074G>A	gnomAD
PDGFRA	P16234	p.Ile949Val	rs1226557820	missense variant	-	NC_000004.12:g.54289079A>G	TOPMed
PDGFRA	P16234	p.Val950Leu	COSM6167418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289082G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu951Asp	COSM1430096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289087G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Leu954Met	COSM6167417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54289094C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gly956Glu	rs752010861	missense variant	-	NC_000004.12:g.54289101G>A	ExAC,gnomAD
PDGFRA	P16234	p.Gly956Arg	rs1323119166	missense variant	-	NC_000004.12:g.54289100G>A	gnomAD
PDGFRA	P16234	p.Gln957Arg	rs757720616	missense variant	-	NC_000004.12:g.54289104A>G	ExAC,gnomAD
PDGFRA	P16234	p.Gln957His	rs752373446	missense variant	-	NC_000004.12:g.54289105A>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys960Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54289113A>T	NCI-TCGA
PDGFRA	P16234	p.Glu963Lys	rs756581500	missense variant	-	NC_000004.12:g.54290319G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys964Glu	RCV000689368	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290322A>G	ClinVar
PDGFRA	P16234	p.Lys964Glu	rs1290364180	missense variant	-	NC_000004.12:g.54290322A>G	gnomAD
PDGFRA	P16234	p.Ile965Ter	RCV000533208	frameshift	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290325del	ClinVar
PDGFRA	P16234	p.His966Arg	RCV000230418	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290329A>G	ClinVar
PDGFRA	P16234	p.His966Arg	RCV000034720	missense variant	-	NC_000004.12:g.54290329A>G	ClinVar
PDGFRA	P16234	p.His966Arg	rs200042995	missense variant	-	NC_000004.12:g.54290329A>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu967Val	RCV000121787	missense variant	-	NC_000004.12:g.54290331C>G	ClinVar
PDGFRA	P16234	p.Leu967Val	rs140943817	missense variant	-	NC_000004.12:g.54290331C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp968Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54290334G>A	NCI-TCGA
PDGFRA	P16234	p.Phe969Leu	rs267600189	missense variant	-	NC_000004.12:g.54290339C>A	ExAC,gnomAD
PDGFRA	P16234	p.Leu970Pro	rs1553906621	missense variant	-	NC_000004.12:g.54290341T>C	-
PDGFRA	P16234	p.Leu970Pro	RCV000534679	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290341T>C	ClinVar
PDGFRA	P16234	p.Lys971Thr	rs1192943586	missense variant	-	NC_000004.12:g.54290344A>C	gnomAD
PDGFRA	P16234	p.Lys971Asn	rs1388812728	missense variant	-	NC_000004.12:g.54290345G>T	gnomAD
PDGFRA	P16234	p.Ser972Gly	rs1353514444	missense variant	-	NC_000004.12:g.54290346A>G	gnomAD
PDGFRA	P16234	p.Ser972Gly	rs1353514444	missense variant	-	NC_000004.12:g.54290346A>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asp973Glu	rs1467854764	missense variant	-	NC_000004.12:g.54290351C>A	TOPMed
PDGFRA	P16234	p.His974Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54290354T>G	NCI-TCGA
PDGFRA	P16234	p.Ala976Pro	rs1007954435	missense variant	-	NC_000004.12:g.54290358G>C	TOPMed
PDGFRA	P16234	p.Ala976Thr	RCV000550847	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290358G>A	ClinVar
PDGFRA	P16234	p.Ala976Thr	rs1007954435	missense variant	-	NC_000004.12:g.54290358G>A	TOPMed
PDGFRA	P16234	p.Val977Gly	rs375104103	missense variant	-	NC_000004.12:g.54290362T>G	ESP,TOPMed
PDGFRA	P16234	p.Ala978Ser	RCV000633788	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290364G>T	ClinVar
PDGFRA	P16234	p.Ala978Ser	rs770822231	missense variant	-	NC_000004.12:g.54290364G>T	ExAC,gnomAD
PDGFRA	P16234	p.Arg979Cys	RCV000228242	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290367C>T	ClinVar
PDGFRA	P16234	p.Arg979His	RCV000462430	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290368G>A	ClinVar
PDGFRA	P16234	p.Arg979His	rs587778598	missense variant	-	NC_000004.12:g.54290368G>A	NCI-TCGA,NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg979Cys	rs587778597	missense variant	-	NC_000004.12:g.54290367C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg979His	rs587778598	missense variant	-	NC_000004.12:g.54290368G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Met980Thr	RCV000694341	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290371T>C	ClinVar
PDGFRA	P16234	p.Met980Thr	rs1381392993	missense variant	-	NC_000004.12:g.54290371T>C	gnomAD
PDGFRA	P16234	p.Met980Val	rs769579172	missense variant	-	NC_000004.12:g.54290370A>G	ExAC,gnomAD
PDGFRA	P16234	p.Arg981His	RCV000232212	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290374G>A	ClinVar
PDGFRA	P16234	p.Arg981His	rs368266633	missense variant	-	NC_000004.12:g.54290374G>A	NCI-TCGA,NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg981Pro	rs368266633	missense variant	-	NC_000004.12:g.54290374G>C	NCI-TCGA,NCI-TCGA Cosmic
PDGFRA	P16234	p.Arg981Cys	rs775205485	missense variant	-	NC_000004.12:g.54290373C>T	NCI-TCGA
PDGFRA	P16234	p.Arg981Cys	rs775205485	missense variant	-	NC_000004.12:g.54290373C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg981His	rs368266633	missense variant	-	NC_000004.12:g.54290374G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg981Pro	rs368266633	missense variant	-	NC_000004.12:g.54290374G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val982Ala	rs1314369942	missense variant	-	NC_000004.12:g.54290377T>C	gnomAD
PDGFRA	P16234	p.Val982Met	RCV000633850	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290376G>A	ClinVar
PDGFRA	P16234	p.Val982Leu	COSM734173	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290376G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val982Met	rs1553906630	missense variant	-	NC_000004.12:g.54290376G>A	NCI-TCGA
PDGFRA	P16234	p.Val982Met	rs1553906630	missense variant	-	NC_000004.12:g.54290376G>A	-
PDGFRA	P16234	p.Asp983Tyr	rs1553906632	missense variant	-	NC_000004.12:g.54290379G>T	-
PDGFRA	P16234	p.Asp983Tyr	RCV000558713	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290379G>T	ClinVar
PDGFRA	P16234	p.Ser984Leu	RCV000702667	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290383C>T	ClinVar
PDGFRA	P16234	p.Asp985Asn	RCV000464523	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290385G>A	ClinVar
PDGFRA	P16234	p.Asp985Asn	rs1060501516	missense variant	-	NC_000004.12:g.54290385G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asp985Asn	rs1060501516	missense variant	-	NC_000004.12:g.54290385G>A	-
PDGFRA	P16234	p.Asn986Ser	RCV000465618	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290389A>G	ClinVar
PDGFRA	P16234	p.Asn986Ser	rs372859148	missense variant	-	NC_000004.12:g.54290389A>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asn986Lys	rs746381701	missense variant	-	NC_000004.12:g.54290390T>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ala987Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54290392C>A	NCI-TCGA
PDGFRA	P16234	p.Ala987Val	rs756632688	missense variant	-	NC_000004.12:g.54290392C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Tyr988His	rs1334321310	missense variant	-	NC_000004.12:g.54290394T>C	TOPMed
PDGFRA	P16234	p.Tyr988Cys	rs1206479566	missense variant	-	NC_000004.12:g.54290395A>G	gnomAD
PDGFRA	P16234	p.Ile989Leu	RCV000633774	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290397A>C	ClinVar
PDGFRA	P16234	p.Ile989Val	RCV000474365	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290397A>G	ClinVar
PDGFRA	P16234	p.Ile989Thr	RCV000121790	missense variant	-	NC_000004.12:g.54290398T>C	ClinVar
PDGFRA	P16234	p.Ile989Val	RCV000764540	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290397A>G	ClinVar
PDGFRA	P16234	p.Ile989Val	rs145019788	missense variant	-	NC_000004.12:g.54290397A>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile989Thr	rs587778599	missense variant	-	NC_000004.12:g.54290398T>C	TOPMed
PDGFRA	P16234	p.Ile989Leu	rs145019788	missense variant	-	NC_000004.12:g.54290397A>C	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val991Ile	rs1184746473	missense variant	-	NC_000004.12:g.54290403G>A	gnomAD
PDGFRA	P16234	p.Thr992Pro	rs1449825367	missense variant	-	NC_000004.12:g.54290406A>C	TOPMed
PDGFRA	P16234	p.Thr992Ile	rs1437358654	missense variant	-	NC_000004.12:g.54290407C>T	gnomAD
PDGFRA	P16234	p.Tyr993Asn	rs952413151	missense variant	-	NC_000004.12:g.54290409T>A	TOPMed,gnomAD
PDGFRA	P16234	p.Lys994Glu	RCV000535021	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290412A>G	ClinVar
PDGFRA	P16234	p.Lys994Glu	rs552254049	missense variant	-	NC_000004.12:g.54290412A>G	1000Genomes,TOPMed
PDGFRA	P16234	p.Glu996Lys	rs779173667	missense variant	-	NC_000004.12:g.54290418G>A	NCI-TCGA,NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu996Lys	rs779173667	missense variant	-	NC_000004.12:g.54290418G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu996Lys	rs779173667	missense variant	-	NC_000004.12:g.54290418G>A	UniProt,dbSNP
PDGFRA	P16234	p.Glu996Lys	VAR_042036	missense variant	-	NC_000004.12:g.54290418G>A	UniProt
PDGFRA	P16234	p.Glu996Asp	rs748269104	missense variant	-	NC_000004.12:g.54290420G>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu997Lys	RCV000226613	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290421G>A	ClinVar
PDGFRA	P16234	p.Glu997Lys	rs758534651	missense variant	-	NC_000004.12:g.54290421G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys999Asn	RCV000228338	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290429G>C	ClinVar
PDGFRA	P16234	p.Lys999Asn	rs772463000	missense variant	-	NC_000004.12:g.54290429G>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Leu1000Val	rs568721384	missense variant	-	NC_000004.12:g.54290430C>G	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys1001Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54290434A>T	NCI-TCGA
PDGFRA	P16234	p.Lys1001Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54290435G>T	NCI-TCGA
PDGFRA	P16234	p.Asp1002Tyr	RCV000696315	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290436G>T	ClinVar
PDGFRA	P16234	p.Asp1002Asn	RCV000470965	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290436G>A	ClinVar
PDGFRA	P16234	p.Asp1002Tyr	RCV000034721	missense variant	-	NC_000004.12:g.54290436G>T	ClinVar
PDGFRA	P16234	p.Asp1002Tyr	rs200676118	missense variant	-	NC_000004.12:g.54290436G>T	-
PDGFRA	P16234	p.Asp1002Asn	rs200676118	missense variant	-	NC_000004.12:g.54290436G>A	-
PDGFRA	P16234	p.Trp1003Cys	RCV000633726	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290441G>T	ClinVar
PDGFRA	P16234	p.Trp1003Cys	rs981559406	missense variant	-	NC_000004.12:g.54290441G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Trp1003Cys	rs981559406	missense variant	-	NC_000004.12:g.54290441G>T	TOPMed
PDGFRA	P16234	p.Glu1004Lys	rs1376909345	missense variant	-	NC_000004.12:g.54290442G>A	gnomAD
PDGFRA	P16234	p.Leu1007Met	rs1348842755	missense variant	-	NC_000004.12:g.54290451C>A	NCI-TCGA
PDGFRA	P16234	p.Leu1007Met	rs1348842755	missense variant	-	NC_000004.12:g.54290451C>A	TOPMed
PDGFRA	P16234	p.Glu1009Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54290459G>T	NCI-TCGA
PDGFRA	P16234	p.Gln1010Ter	rs1247175258	stop gained	-	NC_000004.12:g.54290460C>T	TOPMed
PDGFRA	P16234	p.Arg1011Lys	rs1553906650	missense variant	-	NC_000004.12:g.54290464G>A	-
PDGFRA	P16234	p.Arg1011Lys	RCV000528364	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290464G>A	ClinVar
PDGFRA	P16234	p.Ser1013Ile	rs1307047645	missense variant	-	NC_000004.12:g.54290470G>T	gnomAD
PDGFRA	P16234	p.Ser1013Gly	COSM4942937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290469A>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Ala1014Thr	RCV000540806	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290472G>A	ClinVar
PDGFRA	P16234	p.Ala1014Thr	rs768291477	missense variant	-	NC_000004.12:g.54290472G>A	NCI-TCGA
PDGFRA	P16234	p.Ala1014Thr	rs768291477	missense variant	-	NC_000004.12:g.54290472G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp1015Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54290476A>T	NCI-TCGA
PDGFRA	P16234	p.Tyr1018Ter	rs774086813	stop gained	-	NC_000004.12:g.54290486C>A	ExAC,gnomAD
PDGFRA	P16234	p.Ile1019Asn	rs761308715	missense variant	-	NC_000004.12:g.54290488T>A	ExAC,gnomAD
PDGFRA	P16234	p.Ile1020Val	RCV000633815	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290490A>G	ClinVar
PDGFRA	P16234	p.Ile1020Val	rs767151323	missense variant	-	NC_000004.12:g.54290490A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Pro1021Leu	rs772837015	missense variant	-	NC_000004.12:g.54290494C>T	ExAC,gnomAD
PDGFRA	P16234	p.Asp1024Asn	RCV000633772	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290502G>A	ClinVar
PDGFRA	P16234	p.Asp1024Asn	rs1553906665	missense variant	-	NC_000004.12:g.54290502G>A	-
PDGFRA	P16234	p.Ile1025Met	rs754302100	missense variant	-	NC_000004.12:g.54290507T>G	ExAC,gnomAD
PDGFRA	P16234	p.Ile1025Val	RCV000553620	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290505A>G	ClinVar
PDGFRA	P16234	p.Ile1025Val	rs1553906669	missense variant	-	NC_000004.12:g.54290505A>G	-
PDGFRA	P16234	p.Asp1026Asn	rs1553906671	missense variant	-	NC_000004.12:g.54290508G>A	-
PDGFRA	P16234	p.Asp1026Gly	RCV000542345	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290509A>G	ClinVar
PDGFRA	P16234	p.Asp1026Asn	RCV000525361	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290508G>A	ClinVar
PDGFRA	P16234	p.Asp1026Gly	rs1418641601	missense variant	-	NC_000004.12:g.54290509A>G	TOPMed,gnomAD
PDGFRA	P16234	p.Asp1026Glu	COSM481339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290510C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Pro1027Leu	rs755391122	missense variant	-	NC_000004.12:g.54290512C>T	NCI-TCGA
PDGFRA	P16234	p.Pro1027Ser	rs1383509559	missense variant	-	NC_000004.12:g.54290511C>T	TOPMed
PDGFRA	P16234	p.Pro1027His	COSM1056087	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290512C>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Pro1027Leu	rs755391122	missense variant	-	NC_000004.12:g.54290512C>T	ExAC,gnomAD
PDGFRA	P16234	p.Val1028Ala	RCV000230125	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290515T>C	ClinVar
PDGFRA	P16234	p.Val1028Ala	rs765476521	missense variant	-	NC_000004.12:g.54290515T>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Val1028Asp	rs765476521	missense variant	-	NC_000004.12:g.54290515T>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Pro1029Leu	rs1553906681	missense variant	-	NC_000004.12:g.54290518C>T	-
PDGFRA	P16234	p.Pro1029Leu	RCV000633795	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290518C>T	ClinVar
PDGFRA	P16234	p.Glu1030Asp	COSM481340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290522G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu1030Lys	rs752966371	missense variant	-	NC_000004.12:g.54290520G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu1031Ter	COSM481342	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.54290523G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Glu1031Lys	rs1444450672	missense variant	-	NC_000004.12:g.54290523G>A	gnomAD
PDGFRA	P16234	p.Glu1032Asp	COSM6100282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54290528G>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asp1033Glu	RCV000685699	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290531C>G	ClinVar
PDGFRA	P16234	p.Asp1033Val	RCV000457138	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290530A>T	ClinVar
PDGFRA	P16234	p.Asp1033Val	rs201874958	missense variant	-	NC_000004.12:g.54290530A>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp1033Tyr	rs1335871475	missense variant	-	NC_000004.12:g.54290529G>T	gnomAD
PDGFRA	P16234	p.Leu1034Pro	RCV000691485	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290533T>C	ClinVar
PDGFRA	P16234	p.Leu1034Pro	rs1444268252	missense variant	-	NC_000004.12:g.54290533T>C	gnomAD
PDGFRA	P16234	p.Gly1035Ala	rs777886441	missense variant	-	NC_000004.12:g.54290536G>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Arg1037Lys	rs747082676	missense variant	-	NC_000004.12:g.54290542G>A	ExAC,gnomAD
PDGFRA	P16234	p.Asn1038Lys	rs1060501518	missense variant	-	NC_000004.12:g.54290546C>G	-
PDGFRA	P16234	p.Asn1038Lys	RCV000459312	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54290546C>G	ClinVar
PDGFRA	P16234	p.Arg1039Lys	rs756081317	missense variant	-	NC_000004.12:g.54290548G>A	ExAC,gnomAD
PDGFRA	P16234	p.His1040Pro	rs1224462951	missense variant	-	NC_000004.12:g.54290551A>C	gnomAD
PDGFRA	P16234	p.Ser1042Leu	rs764265933	missense variant	-	NC_000004.12:g.54295127C>T	NCI-TCGA,NCI-TCGA Cosmic
PDGFRA	P16234	p.Ser1042Leu	rs764265933	missense variant	-	NC_000004.12:g.54295127C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gln1043His	COSM3974940	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295131G>C	NCI-TCGA Cosmic
PDGFRA	P16234	p.Gln1043Arg	rs1553907178	missense variant	-	NC_000004.12:g.54295130A>G	-
PDGFRA	P16234	p.Gln1043Arg	RCV000633738	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295130A>G	ClinVar
PDGFRA	P16234	p.Thr1044Ile	rs1288330578	missense variant	-	NC_000004.12:g.54295133C>T	gnomAD
PDGFRA	P16234	p.Glu1047Asp	RCV000460328	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295143G>C	ClinVar
PDGFRA	P16234	p.Glu1047Asp	rs1060501513	missense variant	-	NC_000004.12:g.54295143G>C	-
PDGFRA	P16234	p.Glu1047Gln	rs1203681167	missense variant	-	NC_000004.12:g.54295141G>C	gnomAD
PDGFRA	P16234	p.Ile1050Leu	rs757362827	missense variant	-	NC_000004.12:g.54295150A>C	ExAC,gnomAD
PDGFRA	P16234	p.Glu1051Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54295153G>A	NCI-TCGA
PDGFRA	P16234	p.Thr1052Met	RCV000032819	missense variant	Cleft palate, isolated (CPI)	NC_000004.12:g.54295157C>T	ClinVar
PDGFRA	P16234	p.Thr1052Met	RCV000232988	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295157C>T	ClinVar
PDGFRA	P16234	p.Thr1052Ser	rs1215904714	missense variant	-	NC_000004.12:g.54295156A>T	TOPMed
PDGFRA	P16234	p.Thr1052Ser	RCV000633830	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295156A>T	ClinVar
PDGFRA	P16234	p.Thr1052Met	rs397514550	missense variant	-	NC_000004.12:g.54295157C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gly1053Arg	rs1215673916	missense variant	-	NC_000004.12:g.54295159G>C	TOPMed
PDGFRA	P16234	p.Ser1054Cys	rs778837386	missense variant	-	NC_000004.12:g.54295163C>G	ExAC,gnomAD
PDGFRA	P16234	p.Ser1057Phe	COSM4487328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295172C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Thr1058Asn	rs747864564	missense variant	-	NC_000004.12:g.54295175C>A	ExAC,gnomAD
PDGFRA	P16234	p.Ile1060Asn	RCV000229701	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295181T>A	ClinVar
PDGFRA	P16234	p.Ile1060Thr	rs774522904	missense variant	-	NC_000004.12:g.54295181T>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile1060Asn	rs774522904	missense variant	-	NC_000004.12:g.54295181T>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Lys1061Asn	rs138036141	missense variant	-	NC_000004.12:g.54295185G>C	ESP
PDGFRA	P16234	p.Asp1064Gly	RCV000391349	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295193A>G	ClinVar
PDGFRA	P16234	p.Asp1064Gly	RCV000287548	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54295193A>G	ClinVar
PDGFRA	P16234	p.Asp1064Gly	rs375050626	missense variant	-	NC_000004.12:g.54295193A>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Glu1065Lys	rs369389595	missense variant	-	NC_000004.12:g.54295195G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Thr1066Ile	RCV000470552	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295199C>T	ClinVar
PDGFRA	P16234	p.Thr1066Ile	rs775944809	missense variant	-	NC_000004.12:g.54295199C>T	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile1067Val	rs1321102144	missense variant	-	NC_000004.12:g.54295201A>G	NCI-TCGA
PDGFRA	P16234	p.Ile1067Val	rs1321102144	missense variant	-	NC_000004.12:g.54295201A>G	gnomAD
PDGFRA	P16234	p.Ile1067Thr	rs1346616192	missense variant	-	NC_000004.12:g.54295202T>C	gnomAD
PDGFRA	P16234	p.Glu1068Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54295204G>A	NCI-TCGA
PDGFRA	P16234	p.Asp1069Gly	RCV000471912	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295208A>G	ClinVar
PDGFRA	P16234	p.Asp1069Gly	rs372098007	missense variant	-	NC_000004.12:g.54295208A>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile1070Met	RCV000633766	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295212C>G	ClinVar
PDGFRA	P16234	p.Ile1070Met	rs149498489	missense variant	-	NC_000004.12:g.54295212C>G	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ile1070Val	rs770192760	missense variant	-	NC_000004.12:g.54295210A>G	ExAC,gnomAD
PDGFRA	P16234	p.Asp1071Asn	RCV000226955	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295213G>A	ClinVar
PDGFRA	P16234	p.Asp1071Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.54295214A>G	NCI-TCGA
PDGFRA	P16234	p.Asp1071Asn	rs376544204	missense variant	-	NC_000004.12:g.54295213G>A	NCI-TCGA,NCI-TCGA Cosmic
PDGFRA	P16234	p.Asp1071Asn	rs376544204	missense variant	-	NC_000004.12:g.54295213G>A	ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp1071Asn	rs376544204	missense variant	-	NC_000004.12:g.54295213G>A	UniProt,dbSNP
PDGFRA	P16234	p.Asp1071Asn	VAR_042037	missense variant	-	NC_000004.12:g.54295213G>A	UniProt
PDGFRA	P16234	p.Met1072Lys	RCV000699914	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295217T>A	ClinVar
PDGFRA	P16234	p.Met1072Ile	rs1410475168	missense variant	-	NC_000004.12:g.54295218G>T	TOPMed
PDGFRA	P16234	p.Met1073Ter	RCV000543893	frameshift	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295220del	ClinVar
PDGFRA	P16234	p.Met1073Thr	rs764405049	missense variant	-	NC_000004.12:g.54295220T>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp1074Gly	rs751786947	missense variant	-	NC_000004.12:g.54295223A>G	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp1075Asn	RCV000633785	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295225G>A	ClinVar
PDGFRA	P16234	p.Asp1075Asn	rs767697835	missense variant	-	NC_000004.12:g.54295225G>A	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Asp1075Asn	rs767697835	missense variant	-	NC_000004.12:g.54295225G>A	NCI-TCGA,NCI-TCGA Cosmic
PDGFRA	P16234	p.Ile1076Val	rs750465940	missense variant	-	NC_000004.12:g.54295228A>G	ExAC,gnomAD
PDGFRA	P16234	p.Ile1076Met	RCV000311959	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295230C>G	ClinVar
PDGFRA	P16234	p.Ile1076Val	RCV000468793	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295228A>G	ClinVar
PDGFRA	P16234	p.Ile1076Met	RCV000368950	missense variant	Idiopathic hypereosinophilic syndrome (HES)	NC_000004.12:g.54295230C>G	ClinVar
PDGFRA	P16234	p.Ile1076Met	rs148629782	missense variant	-	NC_000004.12:g.54295230C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Gly1077Ser	RCV000556241	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295231G>A	ClinVar
PDGFRA	P16234	p.Gly1077Ser	rs752633017	missense variant	-	NC_000004.12:g.54295231G>A	ExAC,gnomAD
PDGFRA	P16234	p.Gly1077Cys	rs752633017	missense variant	-	NC_000004.12:g.54295231G>T	ExAC,gnomAD
PDGFRA	P16234	p.Asp1079Val	RCV000695341	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295238A>T	ClinVar
PDGFRA	P16234	p.Asp1079Glu	rs758298020	missense variant	-	NC_000004.12:g.54295239C>G	ExAC,gnomAD
PDGFRA	P16234	p.Ser1080Tyr	rs746673077	missense variant	-	NC_000004.12:g.54295241C>A	NCI-TCGA
PDGFRA	P16234	p.Ser1080Pro	rs777641634	missense variant	-	NC_000004.12:g.54295240T>C	ExAC,TOPMed,gnomAD
PDGFRA	P16234	p.Ser1080Tyr	rs746673077	missense variant	-	NC_000004.12:g.54295241C>A	ExAC,gnomAD
PDGFRA	P16234	p.Ser1081Leu	COSM1310133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295244C>T	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asp1082Glu	RCV000633783	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000004.12:g.54295248C>A	ClinVar
PDGFRA	P16234	p.Asp1082Gly	COSM6167414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295247A>G	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asp1082Glu	rs756955630	missense variant	-	NC_000004.12:g.54295248C>A	ExAC,gnomAD
PDGFRA	P16234	p.Leu1083Met	rs1246505091	missense variant	-	NC_000004.12:g.54295249C>A	TOPMed
PDGFRA	P16234	p.Val1084Met	COSM4125141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295252G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Val1084Ala	rs780817756	missense variant	-	NC_000004.12:g.54295253T>C	ExAC
PDGFRA	P16234	p.Glu1085Lys	COSM246512	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295255G>A	NCI-TCGA Cosmic
PDGFRA	P16234	p.Asp1086Glu	rs1205738556	missense variant	-	NC_000004.12:g.54295260C>G	TOPMed
PDGFRA	P16234	p.Phe1088Ile	rs745334834	missense variant	-	NC_000004.12:g.54295264T>A	ExAC,gnomAD
PDGFRA	P16234	p.Phe1088Val	COSM1056089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.54295264T>G	NCI-TCGA Cosmic
CR1	P17927	p.Gly2Val	rs1179458153	missense variant	-	NC_000001.11:g.207496272G>T	gnomAD
CR1	P17927	p.Ala3Val	rs1422312923	missense variant	-	NC_000001.11:g.207496275C>T	TOPMed
CR1	P17927	p.Ala3Ser	rs1438089128	missense variant	-	NC_000001.11:g.207496274G>T	gnomAD
CR1	P17927	p.Ser5Ala	rs1270698778	missense variant	-	NC_000001.11:g.207496280T>G	TOPMed,gnomAD
CR1	P17927	p.Ser5Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207496281C>A	NCI-TCGA
CR1	P17927	p.Arg7Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207496287G>T	NCI-TCGA
CR1	P17927	p.Arg7Gly	rs1038479607	missense variant	-	NC_000001.11:g.207496286A>G	TOPMed
CR1	P17927	p.Pro9Arg	rs1251291603	missense variant	-	NC_000001.11:g.207496293C>G	TOPMed
CR1	P17927	p.Pro11Leu	COSM3864323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207496299C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro11Thr	rs781322624	missense variant	-	NC_000001.11:g.207496298C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro11Ala	rs781322624	missense variant	-	NC_000001.11:g.207496298C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val12Ile	rs372551774	missense variant	-	NC_000001.11:g.207496301G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly13Arg	rs1276701863	missense variant	-	NC_000001.11:g.207496304G>C	TOPMed
CR1	P17927	p.Pro14Leu	COSM1338413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207496308C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro14Gln	rs769828093	missense variant	-	NC_000001.11:g.207496308C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro15Leu	rs775590306	missense variant	-	NC_000001.11:g.207496311C>T	ExAC,gnomAD
CR1	P17927	p.Pro15Ser	rs1402904259	missense variant	-	NC_000001.11:g.207496310C>T	gnomAD
CR1	P17927	p.Ala16Gly	rs774774612	missense variant	-	NC_000001.11:g.207496314C>G	ExAC,gnomAD
CR1	P17927	p.Ala16Glu	rs774774612	missense variant	-	NC_000001.11:g.207496314C>A	ExAC,gnomAD
CR1	P17927	p.Ala16Thr	rs369804986	missense variant	-	NC_000001.11:g.207496313G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro17Arg	rs566717082	missense variant	-	NC_000001.11:g.207496317C>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro17Ser	rs772948093	missense variant	-	NC_000001.11:g.207496316C>T	ExAC,gnomAD
CR1	P17927	p.Gly18Ser	rs1318306169	missense variant	-	NC_000001.11:g.207496319G>A	TOPMed,gnomAD
CR1	P17927	p.Gly18Val	rs1197723622	missense variant	-	NC_000001.11:g.207496320G>T	TOPMed,gnomAD
CR1	P17927	p.Leu19Phe	rs575513177	missense variant	-	NC_000001.11:g.207496322C>T	TOPMed
CR1	P17927	p.Leu19His	rs1255951917	missense variant	-	NC_000001.11:g.207496323T>A	gnomAD
CR1	P17927	p.Pro20Leu	rs199732885	missense variant	-	NC_000001.11:g.207496326C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe21Leu	rs1423387453	missense variant	-	NC_000001.11:g.207496330C>G	gnomAD
CR1	P17927	p.Cys22Arg	rs1186041714	missense variant	-	NC_000001.11:g.207496331T>C	gnomAD
CR1	P17927	p.Leu28Pro	rs752683886	missense variant	-	NC_000001.11:g.207496350T>C	ExAC,gnomAD
CR1	P17927	p.Ala29Thr	rs555401223	missense variant	-	NC_000001.11:g.207496352G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ala29Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207496353C>T	NCI-TCGA
CR1	P17927	p.Val30Ala	rs777578334	missense variant	-	NC_000001.11:g.207496356T>C	ExAC,gnomAD
CR1	P17927	p.Val32Gly	rs1433800468	missense variant	-	NC_000001.11:g.207496362T>G	TOPMed
CR1	P17927	p.Val32Met	rs756378518	missense variant	-	NC_000001.11:g.207496361G>A	ExAC,gnomAD
CR1	P17927	p.Leu33Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207496364C>A	NCI-TCGA
CR1	P17927	p.Leu34Val	rs370940682	missense variant	-	NC_000001.11:g.207496367C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val38Ala	rs1256878310	missense variant	-	NC_000001.11:g.207496380T>C	gnomAD
CR1	P17927	p.Val38Met	rs1205577751	missense variant	-	NC_000001.11:g.207496379G>A	TOPMed
CR1	P17927	p.Gly41Arg	rs1198741575	missense variant	-	NC_000001.11:g.207496388G>C	gnomAD
CR1	P17927	p.Gly41Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207496388G>A	NCI-TCGA
CR1	P17927	p.Cys43Tyr	rs200480103	missense variant	-	NC_000001.11:g.207505910G>A	ExAC,gnomAD
CR1	P17927	p.Asn44Asp	rs1245523386	missense variant	-	NC_000001.11:g.207505912A>G	TOPMed
CR1	P17927	p.Asn44Ser	rs1204789544	missense variant	-	NC_000001.11:g.207505913A>G	TOPMed
CR1	P17927	p.Ala45Val	rs1464525336	missense variant	-	NC_000001.11:g.207505916C>T	TOPMed
CR1	P17927	p.Glu47Ter	COSM1338417	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207505921G>T	NCI-TCGA Cosmic
CR1	P17927	p.Glu47Lys	rs534091932	missense variant	-	NC_000001.11:g.207505921G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Glu47Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207505921G>C	NCI-TCGA
CR1	P17927	p.Trp48Arg	rs769544255	missense variant	-	NC_000001.11:g.207505924T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu49Phe	rs1206948700	missense variant	-	NC_000001.11:g.207505927C>T	TOPMed
CR1	P17927	p.Pro50Ser	rs774858867	missense variant	-	NC_000001.11:g.207505930C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala52Ser	COSM1473346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207505936G>T	NCI-TCGA Cosmic
CR1	P17927	p.Ala52Val	rs748734391	missense variant	-	NC_000001.11:g.207505937C>T	ExAC,gnomAD
CR1	P17927	p.Arg53Gly	rs768171570	missense variant	-	NC_000001.11:g.207505939A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg53Trp	rs768171570	missense variant	-	NC_000001.11:g.207505939A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu57Ile	rs1446364125	missense variant	-	NC_000001.11:g.207505951C>A	TOPMed,gnomAD
CR1	P17927	p.Thr58Asn	rs767183179	missense variant	-	NC_000001.11:g.207505955C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr58Ala	rs1277802342	missense variant	-	NC_000001.11:g.207505954A>G	gnomAD
CR1	P17927	p.Glu60Lys	rs370964624	missense variant	-	NC_000001.11:g.207505960G>A	ESP,ExAC
CR1	P17927	p.Glu60Asp	rs4844600	missense variant	-	NC_000001.11:g.207505962A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro64Ser	rs368774493	missense variant	-	NC_000001.11:g.207505972C>T	ESP,ExAC,gnomAD
CR1	P17927	p.Ile65Asn	rs1318015787	missense variant	-	NC_000001.11:g.207505976T>A	TOPMed
CR1	P17927	p.Gly66Val	COSM6060840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207505979G>T	NCI-TCGA Cosmic
CR1	P17927	p.Thr67Ile	rs148543091	missense variant	-	NC_000001.11:g.207505982C>T	1000Genomes,ESP,TOPMed,gnomAD
CR1	P17927	p.Tyr68Ter	COSM4935757	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207505986T>A	NCI-TCGA Cosmic
CR1	P17927	p.Tyr68His	rs764290811	missense variant	-	NC_000001.11:g.207505984T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr71Asp	rs757833188	missense variant	-	NC_000001.11:g.207505993T>G	ExAC,gnomAD
CR1	P17927	p.Tyr71His	rs757833188	missense variant	-	NC_000001.11:g.207505993T>C	ExAC,gnomAD
CR1	P17927	p.Glu72Val	rs781398817	missense variant	-	NC_000001.11:g.207505997A>T	ExAC,gnomAD
CR1	P17927	p.Cys73Arg	COSM4027613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207505999T>C	NCI-TCGA Cosmic
CR1	P17927	p.Cys73Phe	rs1387422169	missense variant	-	NC_000001.11:g.207506000G>T	TOPMed
CR1	P17927	p.Arg74Leu	rs200913967	missense variant	-	NC_000001.11:g.207506003G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg74Cys	rs536471861	missense variant	-	NC_000001.11:g.207506002C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg74His	rs200913967	missense variant	-	NC_000001.11:g.207506003G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro75Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207506005C>T	NCI-TCGA
CR1	P17927	p.Gly76Arg	rs1478766910	missense variant	-	NC_000001.11:g.207506008G>C	gnomAD
CR1	P17927	p.Ser78Cys	rs1171079587	missense variant	-	NC_000001.11:g.207506015C>G	gnomAD
CR1	P17927	p.Gly79Arg	rs773894177	missense variant	-	NC_000001.11:g.207506017G>A	ExAC,gnomAD
CR1	P17927	p.Arg80Ile	rs984752226	missense variant	-	NC_000001.11:g.207506021G>T	TOPMed
CR1	P17927	p.Pro81Arg	rs748011435	missense variant	-	NC_000001.11:g.207506024C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro81Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207506023C>G	NCI-TCGA
CR1	P17927	p.Pro81Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207506024C>A	NCI-TCGA
CR1	P17927	p.Pro81Leu	rs748011435	missense variant	-	NC_000001.11:g.207506024C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser83Pro	rs760447829	missense variant	-	NC_000001.11:g.207506029T>C	ExAC,gnomAD
CR1	P17927	p.Ile84Val	rs1283688718	missense variant	-	NC_000001.11:g.207506032A>G	gnomAD
CR1	P17927	p.Ile85Val	rs1354038400	missense variant	-	NC_000001.11:g.207506035A>G	gnomAD
CR1	P17927	p.Ile85Thr	rs766100604	missense variant	-	NC_000001.11:g.207506036T>C	ExAC,gnomAD
CR1	P17927	p.Asn89Ile	rs1317743493	missense variant	-	NC_000001.11:g.207506048A>T	TOPMed,gnomAD
CR1	P17927	p.Asn89Lys	rs763296805	missense variant	-	NC_000001.11:g.207506049C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser90Leu	COSM209698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207506051C>T	NCI-TCGA Cosmic
CR1	P17927	p.Val91Ile	rs186041346	missense variant	-	NC_000001.11:g.207506053G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp92Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207506057G>T	NCI-TCGA
CR1	P17927	p.Thr93Asn	rs1254821847	missense variant	-	NC_000001.11:g.207506060C>A	gnomAD
CR1	P17927	p.Ala95Thr	rs1489203243	missense variant	-	NC_000001.11:g.207506065G>A	gnomAD
CR1	P17927	p.Lys96Asn	rs1422617991	missense variant	-	NC_000001.11:g.207506070G>C	gnomAD
CR1	P17927	p.Arg98Ser	rs750911871	missense variant	-	NC_000001.11:g.207506076G>T	ExAC,gnomAD
CR1	P17927	p.Cys99Gly	rs1326432997	missense variant	-	NC_000001.11:g.207506077T>G	TOPMed
CR1	P17927	p.Arg100Lys	rs1322506903	missense variant	-	NC_000001.11:g.207506081G>A	TOPMed
CR1	P17927	p.Arg100Ser	rs1384664298	missense variant	-	NC_000001.11:g.207506082A>T	TOPMed
CR1	P17927	p.Arg101Ser	rs756455451	missense variant	-	NC_000001.11:g.207506083C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg101Gly	rs756455451	missense variant	-	NC_000001.11:g.207506083C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg101Cys	rs756455451	missense variant	-	NC_000001.11:g.207506083C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys102Asn	rs746933193	missense variant	-	NC_000001.11:g.207506718A>T	ExAC,gnomAD
CR1	P17927	p.Arg105Cys	rs11587944	missense variant	-	NC_000001.11:g.207506725C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg105His	rs554133188	missense variant	-	NC_000001.11:g.207506726G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro107Leu	rs745592804	missense variant	-	NC_000001.11:g.207506732C>T	ExAC,gnomAD
CR1	P17927	p.Pro108Leu	rs769726347	missense variant	-	NC_000001.11:g.207506735C>T	ExAC,gnomAD
CR1	P17927	p.Asp109Val	rs377658670	missense variant	-	NC_000001.11:g.207506738A>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp109Gly	rs377658670	missense variant	-	NC_000001.11:g.207506738A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro110Ser	COSM3482661	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207506740C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro110Thr	rs370425971	missense variant	-	NC_000001.11:g.207506740C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val111Ala	rs773217946	missense variant	-	NC_000001.11:g.207506744T>C	ExAC,gnomAD
CR1	P17927	p.Gly113Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207506750G>A	NCI-TCGA
CR1	P17927	p.Val115Leu	rs761154473	missense variant	-	NC_000001.11:g.207506755G>C	ExAC,gnomAD
CR1	P17927	p.Val115Gly	rs3991747	missense variant	-	NC_000001.11:g.207506756T>G	TOPMed,gnomAD
CR1	P17927	p.Val115Ala	rs3991747	missense variant	-	NC_000001.11:g.207506756T>C	TOPMed,gnomAD
CR1	P17927	p.His116Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207506759A>G	NCI-TCGA
CR1	P17927	p.Val117Ala	rs993321712	missense variant	-	NC_000001.11:g.207506762T>C	TOPMed
CR1	P17927	p.Ile118Thr	rs376045736	missense variant	-	NC_000001.11:g.207506765T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys119Thr	rs55715268	missense variant	-	NC_000001.11:g.207506768A>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly120Ala	rs752354880	missense variant	-	NC_000001.11:g.207506771G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly120Asp	rs752354880	missense variant	-	NC_000001.11:g.207506771G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile121Met	rs763635626	missense variant	-	NC_000001.11:g.207506775C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln122Leu	rs964384441	missense variant	-	NC_000001.11:g.207506777A>T	TOPMed,gnomAD
CR1	P17927	p.Gly124Arg	rs55962594	missense variant	-	NC_000001.11:g.207506782G>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly124Arg	rs55962594	missense variant	-	NC_000001.11:g.207506782G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser125Thr	rs1284775847	missense variant	-	NC_000001.11:g.207506785T>A	gnomAD
CR1	P17927	p.Ser125Phe	rs781217918	missense variant	-	NC_000001.11:g.207506786C>T	ExAC,gnomAD
CR1	P17927	p.Gln126Pro	rs1211525831	missense variant	-	NC_000001.11:g.207506789A>C	gnomAD
CR1	P17927	p.Ser130Pro	rs755936644	missense variant	-	NC_000001.11:g.207506800T>C	ExAC,gnomAD
CR1	P17927	p.Ser130Phe	rs779758291	missense variant	-	NC_000001.11:g.207506801C>T	ExAC,gnomAD
CR1	P17927	p.Thr132Pro	rs55906048	missense variant	-	NC_000001.11:g.207506806A>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys133Glu	rs183171969	missense variant	-	NC_000001.11:g.207506809A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly134Arg	rs767211812	missense variant	-	NC_000001.11:g.207506812G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr135Cys	rs763171525	missense variant	-	NC_000001.11:g.207511571A>G	ExAC,gnomAD
CR1	P17927	p.Tyr135His	rs571542796	missense variant	-	NC_000001.11:g.207511570T>C	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg136Ter	rs764542666	stop gained	-	NC_000001.11:g.207511573C>T	ExAC,gnomAD
CR1	P17927	p.Arg136Gln	rs774108631	missense variant	-	NC_000001.11:g.207511574G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu137His	rs1176392610	missense variant	-	NC_000001.11:g.207511577T>A	TOPMed,gnomAD
CR1	P17927	p.Leu137Ile	rs374701486	missense variant	-	NC_000001.11:g.207511576C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu137Phe	rs374701486	missense variant	-	NC_000001.11:g.207511576C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu137Pro	rs1176392610	missense variant	-	NC_000001.11:g.207511577T>C	TOPMed,gnomAD
CR1	P17927	p.Gly139Cys	rs750014956	missense variant	-	NC_000001.11:g.207511582G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly139Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207511583_207511584insATGAGC	NCI-TCGA
CR1	P17927	p.Ser140Phe	rs760660307	missense variant	-	NC_000001.11:g.207511586C>T	ExAC,gnomAD
CR1	P17927	p.Ser141Leu	rs368197693	missense variant	-	NC_000001.11:g.207511589C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser142Tyr	rs1369522609	missense variant	-	NC_000001.11:g.207511592C>A	gnomAD
CR1	P17927	p.Ala143Val	rs1304528755	missense variant	-	NC_000001.11:g.207511595C>T	gnomAD
CR1	P17927	p.Ile146Asn	rs778796743	missense variant	-	NC_000001.11:g.207511604T>A	ExAC,gnomAD
CR1	P17927	p.Ile147Met	rs1232099294	missense variant	-	NC_000001.11:g.207511608C>G	TOPMed,gnomAD
CR1	P17927	p.Gly149Asp	rs1288254338	missense variant	-	NC_000001.11:g.207511613G>A	gnomAD
CR1	P17927	p.Val152Ile	rs1318002167	missense variant	-	NC_000001.11:g.207511621G>A	gnomAD
CR1	P17927	p.Ile153Val	rs751749798	missense variant	-	NC_000001.11:g.207511624A>G	ExAC,gnomAD
CR1	P17927	p.Ile153Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207511625T>C	NCI-TCGA
CR1	P17927	p.Asp155Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207511630G>A	NCI-TCGA
CR1	P17927	p.Asn156Ser	rs1259302874	missense variant	-	NC_000001.11:g.207511634A>G	gnomAD
CR1	P17927	p.Glu157Lys	COSM3482665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207511636G>A	NCI-TCGA Cosmic
CR1	P17927	p.Thr158Ala	rs1489712968	missense variant	-	NC_000001.11:g.207511639A>G	gnomAD
CR1	P17927	p.Thr158Ile	rs757524712	missense variant	-	NC_000001.11:g.207511640C>T	ExAC,gnomAD
CR1	P17927	p.Pro159Leu	rs371731619	missense variant	-	NC_000001.11:g.207511643C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro159Thr	rs1251927369	missense variant	-	NC_000001.11:g.207511642C>A	TOPMed,gnomAD
CR1	P17927	p.Ile160Val	rs769933207	missense variant	-	NC_000001.11:g.207511645A>G	ExAC,TOPMed
CR1	P17927	p.Cys161Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207511648_207511649TG>-	NCI-TCGA
CR1	P17927	p.Asp162Glu	COSM4027619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207511653C>G	NCI-TCGA Cosmic
CR1	P17927	p.Asp162His	rs1354035846	missense variant	-	NC_000001.11:g.207511651G>C	TOPMed
CR1	P17927	p.Ala173Val	rs1423483198	missense variant	-	NC_000001.11:g.207542212C>T	gnomAD
CR1	P17927	p.Ala173Thr	rs1172570230	missense variant	-	NC_000001.11:g.207542211G>A	gnomAD
CR1	P17927	p.Asn181Ser	rs1319392751	missense variant	-	NC_000001.11:g.207542236A>G	gnomAD
CR1	P17927	p.Asn181Asp	rs1402744807	missense variant	-	NC_000001.11:g.207542235A>G	gnomAD
CR1	P17927	p.Ser189Pro	rs1344196089	missense variant	-	NC_000001.11:g.207542259T>C	gnomAD
CR1	P17927	p.Arg194Cys	rs1454504815	missense variant	-	NC_000001.11:g.207542274C>T	TOPMed
CR1	P17927	p.Arg194His	rs1432514512	missense variant	-	NC_000001.11:g.207542275G>A	gnomAD
CR1	P17927	p.Asn196Ser	rs1327296376	missense variant	-	NC_000001.11:g.207542281A>G	gnomAD
CR1	P17927	p.Pro197Leu	rs1371179681	missense variant	-	NC_000001.11:g.207542284C>T	gnomAD
CR1	P17927	p.Gly200Arg	rs1272946687	missense variant	-	NC_000001.11:g.207542292G>A	TOPMed,gnomAD
CR1	P17927	p.Gly201Arg	rs1352760983	missense variant	-	NC_000001.11:g.207542295G>A	gnomAD
CR1	P17927	p.Val204Met	rs1224094604	missense variant	-	NC_000001.11:g.207542304G>A	gnomAD
CR1	P17927	p.Val208Ala	rs1319273008	missense variant	-	NC_000001.11:g.207542317T>C	TOPMed
CR1	P17927	p.Ser212Thr	rs1450939279	missense variant	-	NC_000001.11:g.207542328T>A	TOPMed
CR1	P17927	p.Tyr214His	rs1464593590	missense variant	-	NC_000001.11:g.207542334T>C	TOPMed,gnomAD
CR1	P17927	p.Thr216Ala	rs1207101946	missense variant	-	NC_000001.11:g.207542340A>G	gnomAD
CR1	P17927	p.Asp220Asn	rs1469007075	missense variant	-	NC_000001.11:g.207542352G>A	gnomAD
CR1	P17927	p.Val222Leu	rs1198268263	missense variant	-	NC_000001.11:g.207542358G>C	gnomAD
CR1	P17927	p.Val222Glu	rs1383759889	missense variant	-	NC_000001.11:g.207542359T>A	TOPMed
CR1	P17927	p.Trp225Arg	rs957992250	missense variant	-	NC_000001.11:g.207542367T>C	TOPMed
CR1	P17927	p.Ser226Asn	rs991182753	missense variant	-	NC_000001.11:g.207542371G>A	TOPMed,gnomAD
CR1	P17927	p.Gly227Ser	rs1159458530	missense variant	-	NC_000001.11:g.207542373G>A	gnomAD
CR1	P17927	p.Pro228Leu	rs1411740870	missense variant	-	NC_000001.11:g.207542377C>T	gnomAD
CR1	P17927	p.Ala229Val	rs949270498	missense variant	-	NC_000001.11:g.207542380C>T	TOPMed,gnomAD
CR1	P17927	p.Ile234Thr	rs140717816	missense variant	-	NC_000001.11:g.207542395T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro235Arg	rs1321051926	missense variant	-	NC_000001.11:g.207542398C>G	TOPMed,gnomAD
CR1	P17927	p.Asn236Thr	rs1337413890	missense variant	-	NC_000001.11:g.207542401A>C	TOPMed,gnomAD
CR1	P17927	p.Cys238Tyr	rs1442903980	missense variant	-	NC_000001.11:g.207542407G>A	TOPMed,gnomAD
CR1	P17927	p.Thr239Met	rs1278700497	missense variant	-	NC_000001.11:g.207542410C>T	TOPMed,gnomAD
CR1	P17927	p.Asn245Ser	rs1326890293	missense variant	-	NC_000001.11:g.207542428A>G	gnomAD
CR1	P17927	p.Ile247Met	rs907688986	missense variant	-	NC_000001.11:g.207542435A>G	TOPMed,gnomAD
CR1	P17927	p.Val249Glu	rs1335731294	missense variant	-	NC_000001.11:g.207542440T>A	TOPMed,gnomAD
CR1	P17927	p.Asp251Asn	rs1435305049	missense variant	-	NC_000001.11:g.207542445G>A	TOPMed
CR1	P17927	p.Ser257PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207542459_207542460insT	NCI-TCGA
CR1	P17927	p.Glu260Ter	rs940457433	stop gained	-	NC_000001.11:g.207542472G>T	TOPMed
CR1	P17927	p.Val262Met	rs1425645053	missense variant	-	NC_000001.11:g.207542478G>A	TOPMed
CR1	P17927	p.Glu263Gln	rs1037377565	missense variant	-	NC_000001.11:g.207542481G>C	TOPMed,gnomAD
CR1	P17927	p.Gln267Arg	rs1303974495	missense variant	-	NC_000001.11:g.207542494A>G	TOPMed,gnomAD
CR1	P17927	p.Gln267Leu	rs1303974495	missense variant	-	NC_000001.11:g.207542494A>T	TOPMed,gnomAD
CR1	P17927	p.Val271Gly	rs1489913779	missense variant	-	NC_000001.11:g.207542506T>G	TOPMed
CR1	P17927	p.Met272Arg	rs1271255603	missense variant	-	NC_000001.11:g.207542509T>G	TOPMed
CR1	P17927	p.Met272Ile	rs1224487839	missense variant	-	NC_000001.11:g.207542510G>A	TOPMed
CR1	P17927	p.Lys273Arg	rs1440030856	missense variant	-	NC_000001.11:g.207542512A>G	gnomAD
CR1	P17927	p.Pro275Arg	rs1250705560	missense variant	-	NC_000001.11:g.207542518C>G	TOPMed
CR1	P17927	p.Pro275Thr	rs770022550	missense variant	-	NC_000001.11:g.207542517C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg276His	rs558851782	missense variant	-	NC_000001.11:g.207542521G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg276Cys	rs1251529011	missense variant	-	NC_000001.11:g.207542520C>T	TOPMed,gnomAD
CR1	P17927	p.Arg277His	rs1295642971	missense variant	-	NC_000001.11:g.207542524G>A	TOPMed
CR1	P17927	p.Val278Met	rs1330092581	missense variant	-	NC_000001.11:g.207542526G>A	gnomAD
CR1	P17927	p.Cys280Phe	rs1227950855	missense variant	-	NC_000001.11:g.207542533G>T	TOPMed,gnomAD
CR1	P17927	p.Pro288Gln	rs931665450	missense variant	-	NC_000001.11:g.207542557C>A	TOPMed,gnomAD
CR1	P17927	p.Pro288Leu	rs931665450	missense variant	-	NC_000001.11:g.207542557C>T	TOPMed,gnomAD
CR1	P17927	p.Glu289Gln	rs1370320669	missense variant	-	NC_000001.11:g.207542559G>C	TOPMed
CR1	P17927	p.Ser294Phe	rs1457117136	missense variant	-	NC_000001.11:g.207542575C>T	TOPMed,gnomAD
CR1	P17927	p.Arg295Lys	rs1355236699	missense variant	-	NC_000001.11:g.207542578G>A	TOPMed
CR1	P17927	p.Val296Ile	rs1160931928	missense variant	-	NC_000001.11:g.207542580G>A	gnomAD
CR1	P17927	p.Val296Ala	rs1422851591	missense variant	-	NC_000001.11:g.207545308T>C	gnomAD
CR1	P17927	p.Cys297Arg	rs1430937692	missense variant	-	NC_000001.11:g.207545310T>C	TOPMed,gnomAD
CR1	P17927	p.Cys297Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207545312T>A	NCI-TCGA
CR1	P17927	p.Gln298Lys	rs1185043675	missense variant	-	NC_000001.11:g.207545313C>A	TOPMed,gnomAD
CR1	P17927	p.Asp302Asn	rs1332822241	missense variant	-	NC_000001.11:g.207545325G>A	TOPMed
CR1	P17927	p.Ala306Val	rs527946247	missense variant	-	NC_000001.11:g.207545338C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg308His	rs989786536	missense variant	-	NC_000001.11:g.207545344G>A	TOPMed,gnomAD
CR1	P17927	p.Arg308Cys	rs200584485	missense variant	-	NC_000001.11:g.207545343C>T	TOPMed,gnomAD
CR1	P17927	p.Thr309Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207545346A>G	NCI-TCGA
CR1	P17927	p.Arg311Lys	rs1438406657	missense variant	-	NC_000001.11:g.207545353G>A	TOPMed
CR1	P17927	p.Pro318His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207545374C>A	NCI-TCGA
CR1	P17927	p.Gly319Arg	rs774162053	missense variant	-	NC_000001.11:g.207545376G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln320Arg	rs761360483	missense variant	-	NC_000001.11:g.207545380A>G	ExAC,gnomAD
CR1	P17927	p.Gln320Ter	rs1310778512	stop gained	-	NC_000001.11:g.207545379C>T	gnomAD
CR1	P17927	p.Glu321Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207545382G>A	NCI-TCGA
CR1	P17927	p.Phe323Leu	rs760719130	missense variant	-	NC_000001.11:g.207545390C>G	ExAC,gnomAD
CR1	P17927	p.Phe323Ser	rs750300388	missense variant	-	NC_000001.11:g.207545389T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser325Ile	rs370040740	missense variant	-	NC_000001.11:g.207545395G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu327Gly	rs1483158924	missense variant	-	NC_000001.11:g.207545401A>G	gnomAD
CR1	P17927	p.Pro328His	rs754769140	missense variant	-	NC_000001.11:g.207545404C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly329Ser	rs751800993	missense variant	-	NC_000001.11:g.207545406G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly329Cys	rs751800993	missense variant	-	NC_000001.11:g.207545406G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr330Cys	rs757285821	missense variant	-	NC_000001.11:g.207545410A>G	ExAC,gnomAD
CR1	P17927	p.Asp331Tyr	rs372379497	missense variant	-	NC_000001.11:g.207545412G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp331Asn	rs372379497	missense variant	-	NC_000001.11:g.207545412G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly334Arg	rs1464299498	missense variant	-	NC_000001.11:g.207545421G>C	gnomAD
CR1	P17927	p.Gly334Glu	rs1290446351	missense variant	-	NC_000001.11:g.207545422G>A	TOPMed,gnomAD
CR1	P17927	p.Ala335Ser	rs536422297	missense variant	-	NC_000001.11:g.207545424G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala336Thr	rs774104620	missense variant	-	NC_000001.11:g.207545427G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala336Val	rs1363203481	missense variant	-	NC_000001.11:g.207545428C>T	gnomAD
CR1	P17927	p.Ala336Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207545427G>T	NCI-TCGA
CR1	P17927	p.Met338Val	rs771457562	missense variant	-	NC_000001.11:g.207545433A>G	ExAC,gnomAD
CR1	P17927	p.Arg339His	rs766277020	missense variant	-	NC_000001.11:g.207545437G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg339Cys	rs201738449	missense variant	-	NC_000001.11:g.207545436C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg339Ser	rs201738449	missense variant	-	NC_000001.11:g.207545436C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly344Arg	rs1465049433	missense variant	-	NC_000001.11:g.207545451G>C	gnomAD
CR1	P17927	p.Asp345Glu	rs1159769571	missense variant	-	NC_000001.11:g.207545456C>G	TOPMed
CR1	P17927	p.Trp346Ter	rs1207759150	stop gained	-	NC_000001.11:g.207545459G>A	gnomAD
CR1	P17927	p.Ser347Asn	rs1245653046	missense variant	-	NC_000001.11:g.207545461G>A	TOPMed,gnomAD
CR1	P17927	p.Pro348Ser	rs1473263708	missense variant	-	NC_000001.11:g.207545463C>T	TOPMed
CR1	P17927	p.Pro351Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207545472C>T	NCI-TCGA
CR1	P17927	p.Pro351Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207545473C>T	NCI-TCGA
CR1	P17927	p.Thr352Ile	rs1431394392	missense variant	-	NC_000001.11:g.207545476C>T	gnomAD
CR1	P17927	p.Val355Leu	rs1270674501	missense variant	-	NC_000001.11:g.207545484G>T	gnomAD
CR1	P17927	p.Asp359Gly	rs1419095881	missense variant	-	NC_000001.11:g.207545588A>G	TOPMed
CR1	P17927	p.Asp360Gly	rs1191770056	missense variant	-	NC_000001.11:g.207545591A>G	TOPMed
CR1	P17927	p.Gly363Asp	rs1170982782	missense variant	-	NC_000001.11:g.207545600G>A	TOPMed,gnomAD
CR1	P17927	p.Gly363Ser	rs1476739386	missense variant	-	NC_000001.11:g.207545599G>A	TOPMed
CR1	P17927	p.Arg369Cys	rs1371677426	missense variant	-	NC_000001.11:g.207545617C>T	TOPMed,gnomAD
CR1	P17927	p.Arg369His	rs1263535537	missense variant	-	NC_000001.11:g.207545618G>A	TOPMed
CR1	P17927	p.Val370Gly	rs1429565541	missense variant	-	NC_000001.11:g.207545621T>G	TOPMed,gnomAD
CR1	P17927	p.Gln377His	rs1257107357	missense variant	-	NC_000001.11:g.207545643G>T	TOPMed
CR1	P17927	p.Gly379Arg	rs1216381386	missense variant	-	NC_000001.11:g.207545647G>A	TOPMed
CR1	P17927	p.Lys381Glu	rs1320508670	missense variant	-	NC_000001.11:g.207545653A>G	TOPMed
CR1	P17927	p.Val382Met	rs981331220	missense variant	-	NC_000001.11:g.207545656G>A	TOPMed
CR1	P17927	p.Val385Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207545665G>C	NCI-TCGA
CR1	P17927	p.Ile515Thr	rs1306545385	missense variant	-	NC_000001.11:g.207552036T>C	TOPMed,gnomAD
CR1	P17927	p.Arg524Cys	rs1351901476	missense variant	-	NC_000001.11:g.207552062C>T	TOPMed,gnomAD
CR1	P17927	p.Arg524His	rs1237017848	missense variant	-	NC_000001.11:g.207552063G>A	TOPMed
CR1	P17927	p.Cys554Trp	rs1178952374	missense variant	-	NC_000001.11:g.207552762T>G	gnomAD
CR1	P17927	p.Pro557Ser	rs1268168342	missense variant	-	NC_000001.11:g.207552769C>T	TOPMed
CR1	P17927	p.Asp559Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207552775G>T	NCI-TCGA
CR1	P17927	p.Val561Gly	COSM425176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207552782T>G	NCI-TCGA Cosmic
CR1	P17927	p.Met564Arg	rs1456637413	missense variant	-	NC_000001.11:g.207552791T>G	TOPMed
CR1	P17927	p.Val565Met	rs1260187245	missense variant	-	NC_000001.11:g.207552793G>A	TOPMed
CR1	P17927	p.Val565Leu	rs1260187245	missense variant	-	NC_000001.11:g.207552793G>T	TOPMed
CR1	P17927	p.His566Arg	rs1250960533	missense variant	-	NC_000001.11:g.207552797A>G	gnomAD
CR1	P17927	p.Ile568Val	rs1339795954	missense variant	-	NC_000001.11:g.207552802A>G	TOPMed
CR1	P17927	p.Thr569Ile	rs1291680183	missense variant	-	NC_000001.11:g.207552806C>T	TOPMed,gnomAD
CR1	P17927	p.Thr569Lys	rs1291680183	missense variant	-	NC_000001.11:g.207552806C>A	TOPMed,gnomAD
CR1	P17927	p.Asp570Tyr	rs750449198	missense variant	-	NC_000001.11:g.207552808G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile571Ser	rs1022569933	missense variant	-	NC_000001.11:g.207552812T>G	TOPMed
CR1	P17927	p.Gln572His	rs3738467	missense variant	-	NC_000001.11:g.207552816G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val573Ala	rs1397699791	missense variant	-	NC_000001.11:g.207552818T>C	TOPMed
CR1	P17927	p.Arg576Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207552827G>T	NCI-TCGA
CR1	P17927	p.Gly677Ser	rs1449388443	missense variant	-	NC_000001.11:g.207560930G>A	TOPMed,gnomAD
CR1	P17927	p.Ile684Thr	rs1349409945	missense variant	-	NC_000001.11:g.207560952T>C	gnomAD
CR1	P17927	p.Thr689Met	rs1300480503	missense variant	-	NC_000001.11:g.207560967C>T	gnomAD
CR1	P17927	p.Val711Ile	rs1351649221	missense variant	-	NC_000001.11:g.207561032G>A	gnomAD
CR1	P17927	p.Val746Ala	rs1422063204	missense variant	-	NC_000001.11:g.207563864T>C	gnomAD
CR1	P17927	p.Pro749Ser	rs1172663765	missense variant	-	NC_000001.11:g.207563872C>T	gnomAD
CR1	P17927	p.Pro750Ser	rs772748383	missense variant	-	NC_000001.11:g.207563875C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro751Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207563879C>T	NCI-TCGA
CR1	P17927	p.Leu754Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207563888T>C	NCI-TCGA
CR1	P17927	p.Glu757Lys	rs1306529247	missense variant	-	NC_000001.11:g.207563896G>A	gnomAD
CR1	P17927	p.Arg758Leu	rs770372494	missense variant	-	NC_000001.11:g.207563900G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg758His	rs770372494	missense variant	-	NC_000001.11:g.207563900G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg758Cys	rs746473308	missense variant	-	NC_000001.11:g.207563899C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr759Asn	rs776512609	missense variant	-	NC_000001.11:g.207563903C>A	ExAC,gnomAD
CR1	P17927	p.Arg761Lys	rs1215770381	missense variant	-	NC_000001.11:g.207563909G>A	gnomAD
CR1	P17927	p.Asp762Val	rs764994827	missense variant	-	NC_000001.11:g.207563912A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys763Asn	rs1341341110	missense variant	-	NC_000001.11:g.207563916G>T	gnomAD
CR1	P17927	p.Asp764Glu	COSM3482681	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207563919C>A	NCI-TCGA Cosmic
CR1	P17927	p.Asp764Gly	rs775322428	missense variant	-	NC_000001.11:g.207563918A>G	ExAC,gnomAD
CR1	P17927	p.Asn765Lys	COSM3482683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207563922C>A	NCI-TCGA Cosmic
CR1	P17927	p.Pro768Leu	rs1282192185	missense variant	-	NC_000001.11:g.207563930C>T	gnomAD
CR1	P17927	p.Gly769Val	rs1346641257	missense variant	-	NC_000001.11:g.207563933G>T	TOPMed
CR1	P17927	p.Gly769Arg	rs767720284	missense variant	-	NC_000001.11:g.207563932G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser775Ile	rs1390911625	missense variant	-	NC_000001.11:g.207563951G>T	gnomAD
CR1	P17927	p.Pro778Ser	COSM4027625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207563959C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro778Thr	rs766604567	missense variant	-	NC_000001.11:g.207563959C>A	ExAC,gnomAD
CR1	P17927	p.Gly779Ser	rs375660602	missense variant	-	NC_000001.11:g.207563962G>A	ESP,TOPMed,gnomAD
CR1	P17927	p.Tyr780Cys	rs755596402	missense variant	-	NC_000001.11:g.207563966A>G	ExAC
CR1	P17927	p.Asp781Asn	rs1357020474	missense variant	-	NC_000001.11:g.207563968G>A	TOPMed,gnomAD
CR1	P17927	p.Asp781Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207563969A>G	NCI-TCGA
CR1	P17927	p.Leu782Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207563971C>A	NCI-TCGA
CR1	P17927	p.Ala785Ser	rs1227496417	missense variant	-	NC_000001.11:g.207563980G>T	gnomAD
CR1	P17927	p.Ala785Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207563981C>A	NCI-TCGA
CR1	P17927	p.Ala786Val	rs1320601581	missense variant	-	NC_000001.11:g.207563984C>T	TOPMed,gnomAD
CR1	P17927	p.Ser787PheSerProArg	NCI-TCGA novel	insertion	-	NC_000001.11:g.207563988_207563989insTTTTCCCCTAGA	NCI-TCGA
CR1	P17927	p.Arg789Cys	rs753042039	missense variant	-	NC_000001.11:g.207563992C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg789His	rs201018148	missense variant	-	NC_000001.11:g.207563993G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg789Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207563992C>G	NCI-TCGA
CR1	P17927	p.Cys790Arg	rs1330754846	missense variant	-	NC_000001.11:g.207563995T>C	TOPMed,gnomAD
CR1	P17927	p.Pro792Thr	rs1276305457	missense variant	-	NC_000001.11:g.207564001C>A	gnomAD
CR1	P17927	p.Gly794Glu	rs561614144	missense variant	-	NC_000001.11:g.207564008G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly794Arg	rs1210895497	missense variant	-	NC_000001.11:g.207564007G>A	gnomAD
CR1	P17927	p.Asp795Glu	rs1464454973	missense variant	-	NC_000001.11:g.207564012C>G	TOPMed,gnomAD
CR1	P17927	p.Asp795Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207564010G>A	NCI-TCGA
CR1	P17927	p.Trp796Cys	rs770446264	missense variant	-	NC_000001.11:g.207564015G>C	ExAC,gnomAD
CR1	P17927	p.Ser797Asn	rs1248917378	missense variant	-	NC_000001.11:g.207564017G>A	gnomAD
CR1	P17927	p.Pro798Ser	rs1472841505	missense variant	-	NC_000001.11:g.207564019C>T	TOPMed
CR1	P17927	p.Ala799Val	rs1172333018	missense variant	-	NC_000001.11:g.207564023C>T	gnomAD
CR1	P17927	p.Pro801Ala	rs1464850502	missense variant	-	NC_000001.11:g.207564028C>G	TOPMed,gnomAD
CR1	P17927	p.Thr802Ile	rs745791931	missense variant	-	NC_000001.11:g.207564032C>T	ExAC,gnomAD
CR1	P17927	p.Thr802Arg	rs745791931	missense variant	-	NC_000001.11:g.207564032C>G	ExAC,gnomAD
CR1	P17927	p.Val805Ala	rs780677106	missense variant	-	NC_000001.11:g.207564132T>C	ExAC,gnomAD
CR1	P17927	p.Lys806Thr	rs1034671714	missense variant	-	NC_000001.11:g.207564135A>C	TOPMed,gnomAD
CR1	P17927	p.Lys806Ter	rs1160988535	stop gained	-	NC_000001.11:g.207564134A>T	TOPMed
CR1	P17927	p.Ser807Phe	rs1287510617	missense variant	-	NC_000001.11:g.207564138C>T	gnomAD
CR1	P17927	p.Asp810Gly	rs959893502	missense variant	-	NC_000001.11:g.207564147A>G	TOPMed
CR1	P17927	p.Met812Leu	rs552282176	missense variant	-	NC_000001.11:g.207564152A>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Met812Thr	rs1250324619	missense variant	-	NC_000001.11:g.207564153T>C	TOPMed
CR1	P17927	p.Met812Leu	rs552282176	missense variant	-	NC_000001.11:g.207564152A>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly813Asp	rs375592996	missense variant	-	NC_000001.11:g.207564156G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly813Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207564155G>T	NCI-TCGA
CR1	P17927	p.Gly813Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207564156G>C	NCI-TCGA
CR1	P17927	p.Leu816Phe	rs760943508	missense variant	-	NC_000001.11:g.207564164C>T	ExAC,gnomAD
CR1	P17927	p.Leu816Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207564164C>A	NCI-TCGA
CR1	P17927	p.Gly818Asp	rs777009868	missense variant	-	NC_000001.11:g.207564171G>A	ExAC,gnomAD
CR1	P17927	p.Gly818Val	rs777009868	missense variant	-	NC_000001.11:g.207564171G>T	ExAC,gnomAD
CR1	P17927	p.Gly818Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207564170G>C	NCI-TCGA
CR1	P17927	p.Arg819Cys	rs759642548	missense variant	-	NC_000001.11:g.207564173C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg819His	rs202041119	missense variant	-	NC_000001.11:g.207564174G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val820Gly	rs763421051	missense variant	-	NC_000001.11:g.207564177T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val820Leu	rs534738787	missense variant	-	NC_000001.11:g.207564176G>C	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Phe822Cys	COSM903143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207564183T>G	NCI-TCGA Cosmic
CR1	P17927	p.Phe822Leu	rs1322350210	missense variant	-	NC_000001.11:g.207564184T>A	TOPMed
CR1	P17927	p.Phe822Ser	rs1330776023	missense variant	-	NC_000001.11:g.207564183T>C	gnomAD
CR1	P17927	p.Gln827Lys	rs1472141634	missense variant	-	NC_000001.11:g.207564197C>A	gnomAD
CR1	P17927	p.Gln827His	rs368907207	missense variant	-	NC_000001.11:g.207564199G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys831Glu	rs751935590	missense variant	-	NC_000001.11:g.207564209A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys831Arg	rs757631233	missense variant	-	NC_000001.11:g.207564210A>G	ExAC,gnomAD
CR1	P17927	p.Val832Leu	rs767107915	missense variant	-	NC_000001.11:g.207564212G>C	ExAC,gnomAD
CR1	P17927	p.Asp837Asn	rs750106511	missense variant	-	NC_000001.11:g.207564227G>A	ExAC,gnomAD
CR1	P17927	p.Gly839Ala	rs1336336392	missense variant	-	NC_000001.11:g.207564234G>C	gnomAD
CR1	P17927	p.Phe840Cys	rs753215274	missense variant	-	NC_000001.11:g.207565840T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln841Arg	rs181688823	missense variant	-	NC_000001.11:g.207565843A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys843Arg	rs1306297051	missense variant	-	NC_000001.11:g.207565849A>G	gnomAD
CR1	P17927	p.Ser845Arg	rs778669699	missense variant	-	NC_000001.11:g.207565856C>A	ExAC,gnomAD
CR1	P17927	p.Ser846Phe	rs199990810	missense variant	-	NC_000001.11:g.207565858C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser846Cys	rs199990810	missense variant	-	NC_000001.11:g.207565858C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser846Pro	rs758240530	missense variant	-	NC_000001.11:g.207565857T>C	ExAC,gnomAD
CR1	P17927	p.Ala847Ser	rs1174374251	missense variant	-	NC_000001.11:g.207565860G>T	TOPMed,gnomAD
CR1	P17927	p.Tyr849Cys	COSM4027627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207565867A>G	NCI-TCGA Cosmic
CR1	P17927	p.Leu852Phe	rs991603750	missense variant	-	NC_000001.11:g.207565877G>C	TOPMed
CR1	P17927	p.Ala853Thr	rs775786887	missense variant	-	NC_000001.11:g.207565878G>A	ExAC,gnomAD
CR1	P17927	p.Gly854Arg	rs1413770280	missense variant	-	NC_000001.11:g.207565881G>C	TOPMed,gnomAD
CR1	P17927	p.Gly854Val	rs1464911781	missense variant	-	NC_000001.11:g.207565882G>T	TOPMed,gnomAD
CR1	P17927	p.Met855Thr	rs1348639928	missense variant	-	NC_000001.11:g.207565885T>C	TOPMed
CR1	P17927	p.Met855Leu	rs774806895	missense variant	-	NC_000001.11:g.207565884A>T	ExAC,gnomAD
CR1	P17927	p.Glu856Lys	rs200885342	missense variant	-	NC_000001.11:g.207565887G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp859Cys	rs1240057615	missense variant	-	NC_000001.11:g.207565898G>C	TOPMed
CR1	P17927	p.Trp859Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207565897G>T	NCI-TCGA
CR1	P17927	p.Ser862Asn	rs761027851	missense variant	-	NC_000001.11:g.207565906G>A	ExAC,gnomAD
CR1	P17927	p.Ser862Arg	rs971470532	missense variant	-	NC_000001.11:g.207565907T>G	TOPMed,gnomAD
CR1	P17927	p.Val863Ile	rs765886000	missense variant	-	NC_000001.11:g.207565908G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro864Thr	rs201872183	missense variant	-	NC_000001.11:g.207565911C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro864Ser	rs201872183	missense variant	-	NC_000001.11:g.207565911C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys866Arg	COSM4027629	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207565917T>C	NCI-TCGA Cosmic
CR1	P17927	p.Glu867Lys	rs1457796524	missense variant	-	NC_000001.11:g.207565920G>A	gnomAD
CR1	P17927	p.Gln868Lys	rs370291677	missense variant	-	NC_000001.11:g.207565923C>A	ESP,TOPMed,gnomAD
CR1	P17927	p.Gln868Ter	rs370291677	stop gained	-	NC_000001.11:g.207565923C>T	ESP,TOPMed,gnomAD
CR1	P17927	p.Ile869Asn	rs1221665821	missense variant	-	NC_000001.11:g.207567827T>A	gnomAD
CR1	P17927	p.Ile869Met	rs773718302	missense variant	-	NC_000001.11:g.207567828C>G	ExAC
CR1	P17927	p.Ile869ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207567827T>-	NCI-TCGA
CR1	P17927	p.Phe870Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207567829T>C	NCI-TCGA
CR1	P17927	p.Cys871Trp	rs760895493	missense variant	-	NC_000001.11:g.207567834T>G	ExAC,gnomAD
CR1	P17927	p.Cys871Tyr	rs1489844815	missense variant	-	NC_000001.11:g.207567833G>A	gnomAD
CR1	P17927	p.Cys871Gly	rs1264749949	missense variant	-	NC_000001.11:g.207567832T>G	gnomAD
CR1	P17927	p.Pro872Thr	rs771362085	missense variant	-	NC_000001.11:g.207567835C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro874Thr	COSM5131020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567841C>A	NCI-TCGA Cosmic
CR1	P17927	p.Pro874Ser	rs1473041661	missense variant	-	NC_000001.11:g.207567841C>T	gnomAD
CR1	P17927	p.Pro874His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207567842C>A	NCI-TCGA
CR1	P17927	p.Pro875Ala	rs1181808330	missense variant	-	NC_000001.11:g.207567844C>G	TOPMed,gnomAD
CR1	P17927	p.Pro875Ser	rs1181808330	missense variant	-	NC_000001.11:g.207567844C>T	TOPMed,gnomAD
CR1	P17927	p.Val876Ala	rs149099494	missense variant	-	NC_000001.11:g.207567848T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile877Thr	rs1165614076	missense variant	-	NC_000001.11:g.207567851T>C	TOPMed,gnomAD
CR1	P17927	p.Ile877Val	rs368350236	missense variant	-	NC_000001.11:g.207567850A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro878Ser	COSM3482693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567853C>T	NCI-TCGA Cosmic
CR1	P17927	p.Asn879Thr	rs1423351763	missense variant	-	NC_000001.11:g.207567857A>C	gnomAD
CR1	P17927	p.Asn879Lys	rs372043685	missense variant	-	NC_000001.11:g.207567858T>G	ESP,TOPMed,gnomAD
CR1	P17927	p.Gly880Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207567860G>T	NCI-TCGA
CR1	P17927	p.His882Asn	rs201131753	missense variant	-	NC_000001.11:g.207567865C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His882Gln	rs762557988	missense variant	-	NC_000001.11:g.207567867C>A	ExAC,gnomAD
CR1	P17927	p.His882Tyr	rs201131753	missense variant	-	NC_000001.11:g.207567865C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly884Glu	COSM3482695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567872G>A	NCI-TCGA Cosmic
CR1	P17927	p.Lys885Arg	rs764066230	missense variant	-	NC_000001.11:g.207567875A>G	ExAC,gnomAD
CR1	P17927	p.Pro886Thr	rs751577790	missense variant	-	NC_000001.11:g.207567877C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro886Ser	rs751577790	missense variant	-	NC_000001.11:g.207567877C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu888Gln	rs1311448168	missense variant	-	NC_000001.11:g.207567883G>C	gnomAD
CR1	P17927	p.Val889Gly	rs1357146819	missense variant	-	NC_000001.11:g.207567887T>G	gnomAD
CR1	P17927	p.Pro891Arg	rs1275076141	missense variant	-	NC_000001.11:g.207567893C>G	gnomAD
CR1	P17927	p.Pro891Ser	rs372477607	missense variant	-	NC_000001.11:g.207567892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe892Ile	rs781087630	missense variant	-	NC_000001.11:g.207567895T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe892Leu	rs781087630	missense variant	-	NC_000001.11:g.207567895T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys894Asn	rs748164192	missense variant	-	NC_000001.11:g.207567903A>C	ExAC,gnomAD
CR1	P17927	p.Lys894Thr	rs779108707	missense variant	-	NC_000001.11:g.207567902A>C	ExAC,gnomAD
CR1	P17927	p.Ala895Pro	rs202021797	missense variant	-	NC_000001.11:g.207567904G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala895Glu	rs747595626	missense variant	-	NC_000001.11:g.207567905C>A	ExAC,gnomAD
CR1	P17927	p.Ala895Gly	rs747595626	missense variant	-	NC_000001.11:g.207567905C>G	ExAC,gnomAD
CR1	P17927	p.Ala895Thr	rs202021797	missense variant	-	NC_000001.11:g.207567904G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn897Ser	rs745504173	missense variant	-	NC_000001.11:g.207567911A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr899Lys	COSM6060836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567917C>A	NCI-TCGA Cosmic
CR1	P17927	p.Thr899Ala	rs1391329090	missense variant	-	NC_000001.11:g.207567916A>G	gnomAD
CR1	P17927	p.Cys900Tyr	rs1015070666	missense variant	-	NC_000001.11:g.207567920G>A	TOPMed,gnomAD
CR1	P17927	p.Cys900Ter	rs374989718	stop gained	-	NC_000001.11:g.207567921C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys900Trp	rs374989718	missense variant	-	NC_000001.11:g.207567921C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys900Gly	rs775295497	missense variant	-	NC_000001.11:g.207567919T>G	ExAC,gnomAD
CR1	P17927	p.Asp901Tyr	rs571845275	missense variant	-	NC_000001.11:g.207567922G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp901Asn	rs571845275	missense variant	-	NC_000001.11:g.207567922G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp901Glu	rs761866338	missense variant	-	NC_000001.11:g.207567924C>A	ExAC,gnomAD
CR1	P17927	p.Pro902His	rs1183095958	missense variant	-	NC_000001.11:g.207567926C>A	TOPMed
CR1	P17927	p.His903Arg	rs767210068	missense variant	-	NC_000001.11:g.207567929A>G	ExAC
CR1	P17927	p.Pro904Ser	COSM903151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567931C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro904Arg	rs534360109	missense variant	-	NC_000001.11:g.207567932C>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp905Glu	rs1280533160	missense variant	-	NC_000001.11:g.207567936C>G	gnomAD
CR1	P17927	p.Asp905Asn	rs1212539706	missense variant	-	NC_000001.11:g.207567934G>A	gnomAD
CR1	P17927	p.Arg906Lys	COSM3482699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567938G>A	NCI-TCGA Cosmic
CR1	P17927	p.Arg906Ser	rs1262040038	missense variant	-	NC_000001.11:g.207567939A>T	TOPMed
CR1	P17927	p.Thr908Met	rs370005351	missense variant	-	NC_000001.11:g.207567944C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe910Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207567949T>C	NCI-TCGA
CR1	P17927	p.Asp911Val	rs184230550	missense variant	-	NC_000001.11:g.207567953A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp911Asn	rs777884906	missense variant	-	NC_000001.11:g.207567952G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile913Ser	rs781556299	missense variant	-	NC_000001.11:g.207567959T>G	ExAC,gnomAD
CR1	P17927	p.Ile913Thr	rs781556299	missense variant	-	NC_000001.11:g.207567959T>C	ExAC,gnomAD
CR1	P17927	p.Ile913Val	rs1475400936	missense variant	-	NC_000001.11:g.207567958A>G	gnomAD
CR1	P17927	p.Glu915Asp	rs775251803	missense variant	-	NC_000001.11:g.207567966G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu915Gly	rs1363859112	missense variant	-	NC_000001.11:g.207567965A>G	TOPMed
CR1	P17927	p.Ser916Arg	COSM6060834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567969C>A	NCI-TCGA Cosmic
CR1	P17927	p.Thr917Pro	rs1458324453	missense variant	-	NC_000001.11:g.207567970A>C	gnomAD
CR1	P17927	p.Thr917Ile	rs768266054	missense variant	-	NC_000001.11:g.207567971C>T	ExAC,gnomAD
CR1	P17927	p.Ile918Met	rs773977331	missense variant	-	NC_000001.11:g.207567975C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919Cys	rs761231049	missense variant	-	NC_000001.11:g.207567976C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919His	rs374276678	missense variant	-	NC_000001.11:g.207567977G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919Ser	rs761231049	missense variant	-	NC_000001.11:g.207567976C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207567977G>T	NCI-TCGA
CR1	P17927	p.Cys920Gly	rs1367970413	missense variant	-	NC_000001.11:g.207567979T>G	gnomAD
CR1	P17927	p.Ser922Ile	rs1262700810	missense variant	-	NC_000001.11:g.207567986G>T	gnomAD
CR1	P17927	p.Pro924Ala	rs760418677	missense variant	-	NC_000001.11:g.207567991C>G	ExAC,gnomAD
CR1	P17927	p.Gln925Arg	rs1268890328	missense variant	-	NC_000001.11:g.207567995A>G	TOPMed,gnomAD
CR1	P17927	p.Gln925Lys	rs200795754	missense variant	-	NC_000001.11:g.207567994C>A	ExAC,gnomAD
CR1	P17927	p.Gly926Glu	COSM3482701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207567998G>A	NCI-TCGA Cosmic
CR1	P17927	p.Gly926Arg	rs752899033	missense variant	-	NC_000001.11:g.207567997G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn927Lys	rs1248982724	missense variant	-	NC_000001.11:g.207568002T>A	gnomAD
CR1	P17927	p.Val929PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207568003G>-	NCI-TCGA
CR1	P17927	p.Ser932Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207568016G>T	NCI-TCGA
CR1	P17927	p.Pro933Ser	rs751591351	missense variant	-	NC_000001.11:g.207568018C>T	ExAC,gnomAD
CR1	P17927	p.Ala934Asp	rs757299511	missense variant	-	NC_000001.11:g.207568022C>A	ExAC,gnomAD
CR1	P17927	p.Pro935Ser	COSM3482703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207568024C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro935LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207568024_207568025insT	NCI-TCGA
CR1	P17927	p.Arg936Cys	rs1191814074	missense variant	-	NC_000001.11:g.207568027C>T	TOPMed,gnomAD
CR1	P17927	p.Arg936His	rs746394762	missense variant	-	NC_000001.11:g.207568028G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile939Thr	rs377522648	missense variant	-	NC_000001.11:g.207568037T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly941Ser	rs1449928382	missense variant	-	NC_000001.11:g.207568042G>A	TOPMed,gnomAD
CR1	P17927	p.Lys1005Glu	rs1421917723	missense variant	-	NC_000001.11:g.207569858A>G	TOPMed
CR1	P17927	p.Pro1008Gln	rs1168646960	missense variant	-	NC_000001.11:g.207569868C>A	TOPMed
CR1	P17927	p.Val1011Gly	rs1245886273	missense variant	-	NC_000001.11:g.207569877T>G	TOPMed
CR1	P17927	p.Val1011Leu	rs953015213	missense variant	-	NC_000001.11:g.207569876G>T	TOPMed
CR1	P17927	p.Val1011Ala	rs1245886273	missense variant	-	NC_000001.11:g.207569877T>C	TOPMed
CR1	P17927	p.Gly1013Ala	rs1469757540	missense variant	-	NC_000001.11:g.207569883G>C	TOPMed
CR1	P17927	p.Val1015Ala	rs1253160229	missense variant	-	NC_000001.11:g.207569889T>C	TOPMed
CR1	P17927	p.Ile1018Val	rs1274705568	missense variant	-	NC_000001.11:g.207569897A>G	TOPMed
CR1	P17927	p.Ile1018Met	rs1214754336	missense variant	-	NC_000001.11:g.207569899C>G	TOPMed
CR1	P17927	p.Gln1022His	rs1344800847	missense variant	-	NC_000001.11:g.207569911G>T	TOPMed
CR1	P17927	p.Thr1033Ala	rs1273419682	missense variant	-	NC_000001.11:g.207569942A>G	TOPMed
CR1	P17927	p.Gly1034Glu	rs1336741853	missense variant	-	NC_000001.11:g.207569946G>A	TOPMed
CR1	P17927	p.Gly1034Val	rs1336741853	missense variant	-	NC_000001.11:g.207569946G>T	TOPMed
CR1	P17927	p.His1035Tyr	COSM4027631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207575596C>T	NCI-TCGA Cosmic
CR1	P17927	p.His1035Asp	rs1237612769	missense variant	-	NC_000001.11:g.207575596C>G	TOPMed,gnomAD
CR1	P17927	p.His1035Gln	rs747792543	missense variant	-	NC_000001.11:g.207575598C>G	ExAC,gnomAD
CR1	P17927	p.His1035Asn	rs1237612769	missense variant	-	NC_000001.11:g.207575596C>A	TOPMed,gnomAD
CR1	P17927	p.Arg1036Ter	rs771592989	stop gained	-	NC_000001.11:g.207575599C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1036Leu	rs777209480	missense variant	-	NC_000001.11:g.207575600G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1036Gln	rs777209480	missense variant	-	NC_000001.11:g.207575600G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1037Pro	COSM5117413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207575603T>C	NCI-TCGA Cosmic
CR1	P17927	p.Ile1038Leu	rs770792733	missense variant	-	NC_000001.11:g.207575605A>C	ExAC,gnomAD
CR1	P17927	p.His1040Tyr	rs1408075849	missense variant	-	NC_000001.11:g.207575611C>T	TOPMed
CR1	P17927	p.His1040Gln	rs776564592	missense variant	-	NC_000001.11:g.207575613C>G	ExAC,gnomAD
CR1	P17927	p.Ser1042Ala	rs763763079	missense variant	-	NC_000001.11:g.207575617T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1042Pro	rs763763079	missense variant	-	NC_000001.11:g.207575617T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1044Gln	rs1459719681	missense variant	-	NC_000001.11:g.207575623G>C	TOPMed
CR1	P17927	p.Cys1045Arg	rs570846321	missense variant	-	NC_000001.11:g.207575626T>C	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ile1046Val	rs774602910	missense variant	-	NC_000001.11:g.207575629A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1046Asn	rs201078030	missense variant	-	NC_000001.11:g.207575630T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1048Leu	rs553365200	missense variant	-	NC_000001.11:g.207575636C>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly1049Asp	rs766940813	missense variant	-	NC_000001.11:g.207575639G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1049Val	rs766940813	missense variant	-	NC_000001.11:g.207575639G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1050Ser	rs754422784	missense variant	-	NC_000001.11:g.207575642A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1051Ala	rs755335900	missense variant	-	NC_000001.11:g.207575644A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1052Thr	rs779191296	missense variant	-	NC_000001.11:g.207575647G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1052Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207575648C>A	NCI-TCGA
CR1	P17927	p.His1053Tyr	rs752383886	missense variant	-	NC_000001.11:g.207575650C>T	ExAC,gnomAD
CR1	P17927	p.His1053Gln	rs758055423	missense variant	-	NC_000001.11:g.207575652T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.His1053Arg	rs1337602180	missense variant	-	NC_000001.11:g.207575651A>G	TOPMed
CR1	P17927	p.Ser1055Asn	rs777411818	missense variant	-	NC_000001.11:g.207575657G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1055Gly	rs1383957339	missense variant	-	NC_000001.11:g.207575656A>G	TOPMed
CR1	P17927	p.Thr1056Met	rs746467906	missense variant	-	NC_000001.11:g.207575660C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1056Lys	rs746467906	missense variant	-	NC_000001.11:g.207575660C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1057Asn	rs1367603804	missense variant	-	NC_000001.11:g.207575664G>T	gnomAD
CR1	P17927	p.Pro1058Leu	rs555835431	missense variant	-	NC_000001.11:g.207575666C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1058Ser	rs745847025	missense variant	-	NC_000001.11:g.207575665C>T	ExAC,gnomAD
CR1	P17927	p.Pro1059Arg	rs1383335271	missense variant	-	NC_000001.11:g.207575669C>G	gnomAD
CR1	P17927	p.Ile1060Thr	rs1386755543	missense variant	-	NC_000001.11:g.207575672T>C	TOPMed
CR1	P17927	p.Cys1061Gly	rs1187794880	missense variant	-	NC_000001.11:g.207575674T>G	TOPMed
CR1	P17927	p.Gln1062Lys	rs908445235	missense variant	-	NC_000001.11:g.207575677C>A	TOPMed,gnomAD
CR1	P17927	p.Gln1062Arg	rs1295283903	missense variant	-	NC_000001.11:g.207575678A>G	gnomAD
CR1	P17927	p.Arg1063Pro	rs1403506210	missense variant	-	NC_000001.11:g.207577805G>C	gnomAD
CR1	P17927	p.Arg1063Ter	rs374550920	stop gained	-	NC_000001.11:g.207575680C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1065Ser	COSM3482705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207577810C>T	NCI-TCGA Cosmic
CR1	P17927	p.Cys1066Arg	rs1373648733	missense variant	-	NC_000001.11:g.207577813T>C	gnomAD
CR1	P17927	p.Gly1067Glu	rs1195986892	missense variant	-	NC_000001.11:g.207577817G>A	TOPMed
CR1	P17927	p.Pro1069His	rs1469308908	missense variant	-	NC_000001.11:g.207577823C>A	TOPMed
CR1	P17927	p.Pro1069Ser	rs764482737	missense variant	-	NC_000001.11:g.207577822C>T	ExAC,gnomAD
CR1	P17927	p.Pro1070Thr	COSM6060830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207577825C>A	NCI-TCGA Cosmic
CR1	P17927	p.Pro1070Ser	rs756968920	missense variant	-	NC_000001.11:g.207577825C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1070Arg	rs767159288	missense variant	-	NC_000001.11:g.207577826C>G	ExAC,gnomAD
CR1	P17927	p.Thr1071Ala	rs779811757	missense variant	-	NC_000001.11:g.207577828A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1072Thr	rs754796360	missense variant	-	NC_000001.11:g.207577832T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1072Val	rs527886855	missense variant	-	NC_000001.11:g.207577831A>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ala1073Thr	rs187750583	missense variant	-	NC_000001.11:g.207577834G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1074Lys	rs1426065925	missense variant	-	NC_000001.11:g.207577839T>A	gnomAD
CR1	P17927	p.Gly1075Glu	rs781494007	missense variant	-	NC_000001.11:g.207577841G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1076Asn	rs745890450	missense variant	-	NC_000001.11:g.207577843G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1076His	rs745890450	missense variant	-	NC_000001.11:g.207577843G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1076Glu	rs1423089942	missense variant	-	NC_000001.11:g.207577845T>G	TOPMed,gnomAD
CR1	P17927	p.Ile1078Ser	rs1170902959	missense variant	-	NC_000001.11:g.207577850T>G	gnomAD
CR1	P17927	p.Ser1079Asn	rs1330653516	missense variant	-	NC_000001.11:g.207577853G>A	TOPMed
CR1	P17927	p.Arg1082Gly	rs1170650435	missense variant	-	NC_000001.11:g.207577861A>G	TOPMed
CR1	P17927	p.Glu1083Asp	COSM903157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207577866G>T	NCI-TCGA Cosmic
CR1	P17927	p.Glu1083Asp	rs561267294	missense variant	-	NC_000001.11:g.207577866G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1084Asp	rs768997678	missense variant	-	NC_000001.11:g.207577867A>G	ExAC,gnomAD
CR1	P17927	p.Asn1084Tyr	rs768997678	missense variant	-	NC_000001.11:g.207577867A>T	ExAC,gnomAD
CR1	P17927	p.His1086Arg	rs762177173	missense variant	-	NC_000001.11:g.207577874A>G	ExAC,gnomAD
CR1	P17927	p.His1086SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207577868_207577869insT	NCI-TCGA
CR1	P17927	p.TyrGly1087Ter	rs1412213267	stop gained	-	NC_000001.11:g.207577878_207577879del	gnomAD
CR1	P17927	p.Tyr1087Cys	rs767107916	missense variant	-	NC_000001.11:g.207577877A>G	ExAC,gnomAD
CR1	P17927	p.Gly1088Ter	rs1314240617	stop gained	-	NC_000001.11:g.207577879G>T	gnomAD
CR1	P17927	p.Tyr1093Cys	rs1454378623	missense variant	-	NC_000001.11:g.207577895A>G	TOPMed
CR1	P17927	p.Arg1094Cys	rs772782879	missense variant	-	NC_000001.11:g.207577897C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1094His	rs752485037	missense variant	-	NC_000001.11:g.207577898G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1095Ter	rs1184324442	stop gained	-	NC_000001.11:g.207577902C>A	gnomAD
CR1	P17927	p.Cys1095Tyr	rs758293909	missense variant	-	NC_000001.11:g.207577901G>A	ExAC,gnomAD
CR1	P17927	p.Asn1096Lys	rs781234907	missense variant	-	NC_000001.11:g.207577905T>A	ExAC,gnomAD
CR1	P17927	p.Asn1096LysArgTerValAspTerLeuTyrArgUnk	rs758851350	stop gained	-	NC_000001.11:g.207577904_207577905insAAGATGAGTAGACTGACTATATAGAG	ExAC
CR1	P17927	p.Leu1097Pro	rs200111726	missense variant	-	NC_000001.11:g.207577907T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1097Arg	rs200111726	missense variant	-	NC_000001.11:g.207577907T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1097Phe	rs746142277	missense variant	-	NC_000001.11:g.207577906C>T	ExAC
CR1	P17927	p.Arg1100Thr	rs769092015	missense variant	-	NC_000001.11:g.207577916G>C	ExAC,gnomAD
CR1	P17927	p.Arg1100Ile	rs769092015	missense variant	-	NC_000001.11:g.207577916G>T	ExAC,gnomAD
CR1	P17927	p.Arg1100Gly	rs202070239	missense variant	-	NC_000001.11:g.207577915A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1101Arg	rs1409764234	missense variant	-	NC_000001.11:g.207577918G>A	gnomAD
CR1	P17927	p.Lys1103Asn	rs774860182	missense variant	-	NC_000001.11:g.207577926G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1106Lys	rs762125782	missense variant	-	NC_000001.11:g.207577933G>A	ExAC,gnomAD
CR1	P17927	p.Leu1107Val	rs772522776	missense variant	-	NC_000001.11:g.207577936C>G	ExAC,gnomAD
CR1	P17927	p.Leu1107Phe	rs772522776	missense variant	-	NC_000001.11:g.207577936C>T	ExAC,gnomAD
CR1	P17927	p.Val1108Gly	COSM903159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207577940T>G	NCI-TCGA Cosmic
CR1	P17927	p.Val1108Ala	rs1270543142	missense variant	-	NC_000001.11:g.207577940T>C	gnomAD
CR1	P17927	p.Gly1109Val	rs1282812707	missense variant	-	NC_000001.11:g.207577943G>T	TOPMed
CR1	P17927	p.Glu1110Lys	rs1212592417	missense variant	-	NC_000001.11:g.207577945G>A	gnomAD
CR1	P17927	p.Glu1110Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207577945G>C	NCI-TCGA
CR1	P17927	p.Pro1111Leu	rs1293651285	missense variant	-	NC_000001.11:g.207577949C>T	gnomAD
CR1	P17927	p.Ile1113Val	rs984613445	missense variant	-	NC_000001.11:g.207577954A>G	TOPMed,gnomAD
CR1	P17927	p.Ile1113Met	rs765800008	missense variant	-	NC_000001.11:g.207577956A>G	ExAC,gnomAD
CR1	P17927	p.Tyr1114His	rs1262658729	missense variant	-	NC_000001.11:g.207577957T>C	gnomAD
CR1	P17927	p.Tyr1114Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207577959C>A	NCI-TCGA
CR1	P17927	p.Thr1116Pro	rs1308396686	missense variant	-	NC_000001.11:g.207577963A>C	TOPMed
CR1	P17927	p.Thr1116Ser	rs1389630111	missense variant	-	NC_000001.11:g.207577964C>G	TOPMed
CR1	P17927	p.Thr1116Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207577963A>G	NCI-TCGA
CR1	P17927	p.Ser1117Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207577967G>A	NCI-TCGA
CR1	P17927	p.Asn1118Lys	rs1460360122	missense variant	-	NC_000001.11:g.207577971T>A	TOPMed,gnomAD
CR1	P17927	p.Asn1118Asp	rs753325833	missense variant	-	NC_000001.11:g.207577969A>G	ExAC
CR1	P17927	p.Asp1119Gly	rs1243203429	missense variant	-	NC_000001.11:g.207577973A>G	TOPMed,gnomAD
CR1	P17927	p.Asp1120His	rs765221100	missense variant	-	NC_000001.11:g.207577975G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1120Tyr	rs765221100	missense variant	-	NC_000001.11:g.207577975G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1120Val	rs1314381180	missense variant	-	NC_000001.11:g.207577976A>T	TOPMed
CR1	P17927	p.Asp1120Asn	rs765221100	missense variant	-	NC_000001.11:g.207577975G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1122Ala	rs758236755	missense variant	-	NC_000001.11:g.207577982T>C	ExAC,gnomAD
CR1	P17927	p.Val1122Gly	rs758236755	missense variant	-	NC_000001.11:g.207577982T>G	ExAC,gnomAD
CR1	P17927	p.Ile1124Met	rs750598422	missense variant	-	NC_000001.11:g.207577989C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1124Leu	rs1175086359	missense variant	-	NC_000001.11:g.207577987A>C	gnomAD
CR1	P17927	p.Trp1125Arg	rs756426946	missense variant	-	NC_000001.11:g.207577990T>A	ExAC,gnomAD
CR1	P17927	p.Ser1126Gly	rs1318816146	missense variant	-	NC_000001.11:g.207577993A>G	gnomAD
CR1	P17927	p.Gly1127Ser	rs749316044	missense variant	-	NC_000001.11:g.207577996G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1127Val	rs1295120917	missense variant	-	NC_000001.11:g.207577997G>T	gnomAD
CR1	P17927	p.Pro1128His	rs1421409370	missense variant	-	NC_000001.11:g.207578000C>A	TOPMed
CR1	P17927	p.Pro1128Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207578000C>T	NCI-TCGA
CR1	P17927	p.Ala1129Pro	rs201139679	missense variant	-	NC_000001.11:g.207578002G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1129Val	rs1282898634	missense variant	-	NC_000001.11:g.207578003C>T	gnomAD
CR1	P17927	p.Ala1129Thr	rs201139679	missense variant	-	NC_000001.11:g.207578002G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1129Gly	rs1282898634	missense variant	-	NC_000001.11:g.207578003C>G	gnomAD
CR1	P17927	p.Pro1130Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207578005C>T	NCI-TCGA
CR1	P17927	p.Gln1131His	rs1259840716	missense variant	-	NC_000001.11:g.207578010G>C	TOPMed
CR1	P17927	p.Cys1132Gly	rs1225565505	missense variant	-	NC_000001.11:g.207578011T>G	gnomAD
CR1	P17927	p.Cys1132Tyr	rs747336966	missense variant	-	NC_000001.11:g.207578012G>A	ExAC,gnomAD
CR1	P17927	p.Ile1134Thr	rs1052621279	missense variant	-	NC_000001.11:g.207578018T>C	TOPMed,gnomAD
CR1	P17927	p.Pro1135Ser	rs1214048976	missense variant	-	NC_000001.11:g.207578020C>T	gnomAD
CR1	P17927	p.Pro1135Leu	rs770561116	missense variant	-	NC_000001.11:g.207578021C>T	ExAC,gnomAD
CR1	P17927	p.Thr1139Met	rs534561631	missense variant	-	NC_000001.11:g.207578033C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1139Arg	rs534561631	missense variant	-	NC_000001.11:g.207578033C>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1141Leu	rs1043874726	missense variant	-	NC_000001.11:g.207578039C>T	TOPMed,gnomAD
CR1	P17927	p.Pro1141Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207578039C>A	NCI-TCGA
CR1	P17927	p.Pro1141Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207578038C>A	NCI-TCGA
CR1	P17927	p.Asn1145Asp	rs1266340909	missense variant	-	NC_000001.11:g.207578050A>G	gnomAD
CR1	P17927	p.Gly1146Glu	rs1158666652	missense variant	-	NC_000001.11:g.207578054G>A	gnomAD
CR1	P17927	p.Gly1146Arg	rs775546714	missense variant	-	NC_000001.11:g.207578053G>A	ExAC,gnomAD
CR1	P17927	p.Ile1147Thr	rs193112197	missense variant	-	NC_000001.11:g.207578057T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1147Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207578056A>G	NCI-TCGA
CR1	P17927	p.Leu1148Ser	rs763794161	missense variant	-	NC_000001.11:g.207578060T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1150Cys	rs757023579	missense variant	-	NC_000001.11:g.207578066C>G	ExAC,gnomAD
CR1	P17927	p.Asp1151Gly	rs1302737744	missense variant	-	NC_000001.11:g.207578069A>G	TOPMed,gnomAD
CR1	P17927	p.Asn1152Asp	rs372881623	missense variant	-	NC_000001.11:g.207578071A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1152Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207578073C>A	NCI-TCGA
CR1	P17927	p.Arg1153Gly	rs1444432198	missense variant	-	NC_000001.11:g.207578074A>G	gnomAD
CR1	P17927	p.Arg1153Ile	rs754099919	missense variant	-	NC_000001.11:g.207578075G>T	ExAC,gnomAD
CR1	P17927	p.Ser1154Thr	rs755023746	missense variant	-	NC_000001.11:g.207578078G>C	ExAC,gnomAD
CR1	P17927	p.Ser1157Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207578087C>T	NCI-TCGA
CR1	P17927	p.Asn1159Lys	rs779018569	missense variant	-	NC_000001.11:g.207578094T>G	ExAC,gnomAD
CR1	P17927	p.Asn1159Ser	rs1002257467	missense variant	-	NC_000001.11:g.207578093A>G	TOPMed
CR1	P17927	p.Val1161Gly	rs200347439	missense variant	-	NC_000001.11:g.207578099T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1165Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207578111G>T	NCI-TCGA
CR1	P17927	p.Phe1170Ile	rs758870432	missense variant	-	NC_000001.11:g.207578125T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1171Gly	rs1266265194	missense variant	-	NC_000001.11:g.207578129T>G	gnomAD
CR1	P17927	p.Val1171Phe	rs1222260909	missense variant	-	NC_000001.11:g.207578128G>T	gnomAD
CR1	P17927	p.Lys1173Glu	rs778158566	missense variant	-	NC_000001.11:g.207578134A>G	ExAC,gnomAD
CR1	P17927	p.Lys1173Asn	rs747352862	missense variant	-	NC_000001.11:g.207578136A>T	ExAC,gnomAD
CR1	P17927	p.Lys1173Arg	rs1181867961	missense variant	-	NC_000001.11:g.207578135A>G	TOPMed,gnomAD
CR1	P17927	p.Pro1175Ser	rs771234874	missense variant	-	NC_000001.11:g.207578140C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1175Thr	rs771234874	missense variant	-	NC_000001.11:g.207578140C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1176His	rs61297619	missense variant	-	NC_000001.11:g.207578144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1176Cys	rs776396416	missense variant	-	NC_000001.11:g.207578143C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1177His	rs532533959	missense variant	-	NC_000001.11:g.207578147G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1177Cys	rs769416269	missense variant	-	NC_000001.11:g.207578146C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1178Met	rs1329610747	missense variant	-	NC_000001.11:g.207578149G>A	gnomAD
CR1	P17927	p.Lys1179Gln	rs1371411457	missense variant	-	NC_000001.11:g.207578152A>C	TOPMed,gnomAD
CR1	P17927	p.Cys1180Tyr	rs762375862	missense variant	-	NC_000001.11:g.207578156G>A	ExAC,gnomAD
CR1	P17927	p.Gln1181Arg	rs764041246	missense variant	-	NC_000001.11:g.207578159A>G	ExAC,gnomAD
CR1	P17927	p.Gln1181Leu	rs764041246	missense variant	-	NC_000001.11:g.207578159A>T	ExAC,gnomAD
CR1	P17927	p.Ala1182Thr	rs761637384	missense variant	-	NC_000001.11:g.207578161G>A	ExAC,gnomAD
CR1	P17927	p.Trp1186Ser	rs1026222975	missense variant	-	NC_000001.11:g.207578174G>C	TOPMed
CR1	P17927	p.Pro1188Thr	rs1296549315	missense variant	-	NC_000001.11:g.207578179C>A	TOPMed,gnomAD
CR1	P17927	p.Pro1191Ser	rs1290093963	missense variant	-	NC_000001.11:g.207578188C>T	gnomAD
CR1	P17927	p.Pro1191Gln	rs1230422490	missense variant	-	NC_000001.11:g.207578189C>A	gnomAD
CR1	P17927	p.Ser1192Gly	rs1341035454	missense variant	-	NC_000001.11:g.207578191A>G	gnomAD
CR1	P17927	p.Cys1193Ter	COSM903161	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207578196C>A	NCI-TCGA Cosmic
CR1	P17927	p.Arg1195Ser	rs1271856175	missense variant	-	NC_000001.11:g.207578202G>T	gnomAD
CR1	P17927	p.Val1196Ala	rs1318119342	missense variant	-	NC_000001.11:g.207580240T>C	TOPMed,gnomAD
CR1	P17927	p.Val1196Glu	rs1318119342	missense variant	-	NC_000001.11:g.207580240T>A	TOPMed,gnomAD
CR1	P17927	p.Val1196Leu	rs1435525629	missense variant	-	NC_000001.11:g.207578203G>T	gnomAD
CR1	P17927	p.Cys1197Tyr	rs1391120629	missense variant	-	NC_000001.11:g.207580243G>A	TOPMed,gnomAD
CR1	P17927	p.Cys1197Gly	rs1182589727	missense variant	-	NC_000001.11:g.207580242T>G	TOPMed
CR1	P17927	p.Gln1198His	rs1337954518	missense variant	-	NC_000001.11:g.207580247G>C	TOPMed,gnomAD
CR1	P17927	p.Pro1199Leu	rs147654348	missense variant	-	NC_000001.11:g.207580249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1201Leu	rs779818824	missense variant	-	NC_000001.11:g.207580255C>T	ExAC,gnomAD
CR1	P17927	p.Ile1203Thr	rs1268320980	missense variant	-	NC_000001.11:g.207580261T>C	TOPMed
CR1	P17927	p.Leu1204Met	COSM903165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580263C>A	NCI-TCGA Cosmic
CR1	P17927	p.Gly1206Asp	rs768195052	missense variant	-	NC_000001.11:g.207580270G>A	ExAC,gnomAD
CR1	P17927	p.Gly1206Ala	rs768195052	missense variant	-	NC_000001.11:g.207580270G>C	ExAC,gnomAD
CR1	P17927	p.Glu1207Lys	rs568448743	missense variant	-	NC_000001.11:g.207580272G>A	1000Genomes,TOPMed,gnomAD
CR1	P17927	p.His1208Arg	rs2274567	missense variant	-	NC_000001.11:g.207580276A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1208Arg	rs2274567	missense variant	-	NC_000001.11:g.207580276A>G	UniProt,dbSNP
CR1	P17927	p.His1208Arg	VAR_013819	missense variant	-	NC_000001.11:g.207580276A>G	UniProt
CR1	P17927	p.His1208Tyr	rs778352919	missense variant	-	NC_000001.11:g.207580275C>T	ExAC,gnomAD
CR1	P17927	p.Pro1210Leu	rs771937604	missense variant	-	NC_000001.11:g.207580282C>T	ExAC,gnomAD
CR1	P17927	p.Ser1211Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580285G>A	NCI-TCGA
CR1	P17927	p.Gln1213Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580290C>G	NCI-TCGA
CR1	P17927	p.Asp1214Glu	rs1228449396	missense variant	-	NC_000001.11:g.207580295C>G	TOPMed
CR1	P17927	p.Asn1215Lys	rs141954836	missense variant	-	NC_000001.11:g.207580298C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1215Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580298C>G	NCI-TCGA
CR1	P17927	p.Ser1217Leu	COSM425177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580303C>T	NCI-TCGA Cosmic
CR1	P17927	p.Ser1217Ala	rs1158339739	missense variant	-	NC_000001.11:g.207580302T>G	gnomAD
CR1	P17927	p.Pro1218Ser	rs770754228	missense variant	-	NC_000001.11:g.207580305C>T	ExAC,gnomAD
CR1	P17927	p.Pro1218Arg	rs1407154782	missense variant	-	NC_000001.11:g.207580306C>G	gnomAD
CR1	P17927	p.Gly1219Arg	rs1437672373	missense variant	-	NC_000001.11:g.207580308G>A	TOPMed
CR1	P17927	p.Gly1219Glu	rs775760258	missense variant	-	NC_000001.11:g.207580309G>A	ExAC,gnomAD
CR1	P17927	p.Glu1221Lys	COSM3482711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580314G>A	NCI-TCGA Cosmic
CR1	P17927	p.Phe1223Leu	COSM260281	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580322C>A	NCI-TCGA Cosmic
CR1	P17927	p.Tyr1224Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580324A>G	NCI-TCGA
CR1	P17927	p.Ser1225Thr	rs1325396913	missense variant	-	NC_000001.11:g.207580327G>C	TOPMed
CR1	P17927	p.Ser1225Gly	rs199540863	missense variant	-	NC_000001.11:g.207580326A>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Glu1227Asp	rs764234206	missense variant	-	NC_000001.11:g.207580334G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1227Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580333A>G	NCI-TCGA
CR1	P17927	p.Pro1228Leu	COSM3482715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580336C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro1228Thr	rs1370479963	missense variant	-	NC_000001.11:g.207580335C>A	TOPMed
CR1	P17927	p.Gly1229AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207580338G>-	NCI-TCGA
CR1	P17927	p.Tyr1230His	rs762000312	missense variant	-	NC_000001.11:g.207580341T>C	ExAC,gnomAD
CR1	P17927	p.Asp1231Gly	rs1283818647	missense variant	-	NC_000001.11:g.207580345A>G	TOPMed,gnomAD
CR1	P17927	p.Leu1232Phe	rs1222977501	missense variant	-	NC_000001.11:g.207580347C>T	TOPMed,gnomAD
CR1	P17927	p.Arg1233Ser	COSM678857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580352A>T	NCI-TCGA Cosmic
CR1	P17927	p.Arg1233Thr	rs899385543	missense variant	-	NC_000001.11:g.207580351G>C	TOPMed
CR1	P17927	p.Ala1235Thr	rs1189542902	missense variant	-	NC_000001.11:g.207580356G>A	TOPMed,gnomAD
CR1	P17927	p.Ala1235Ser	rs1189542902	missense variant	-	NC_000001.11:g.207580356G>T	TOPMed,gnomAD
CR1	P17927	p.Ala1235Val	rs756522188	missense variant	-	NC_000001.11:g.207580357C>T	ExAC,gnomAD
CR1	P17927	p.Ala1236Val	rs539603642	missense variant	-	NC_000001.11:g.207580360C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1236Glu	rs539603642	missense variant	-	NC_000001.11:g.207580360C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1236Thr	rs766708027	missense variant	-	NC_000001.11:g.207580359G>A	ExAC,gnomAD
CR1	P17927	p.Ser1237Phe	COSM4027635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580363C>T	NCI-TCGA Cosmic
CR1	P17927	p.Cys1240Arg	rs1306443898	missense variant	-	NC_000001.11:g.207580371T>C	TOPMed
CR1	P17927	p.Gly1244Val	rs747606332	missense variant	-	NC_000001.11:g.207580384G>T	ExAC,gnomAD
CR1	P17927	p.Asp1245Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580387A>T	NCI-TCGA
CR1	P17927	p.Trp1246Cys	rs1029077663	missense variant	-	NC_000001.11:g.207580391G>T	TOPMed
CR1	P17927	p.Glu1249Ala	COSM4027637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580399A>C	NCI-TCGA Cosmic
CR1	P17927	p.Ala1250Thr	rs1299375945	missense variant	-	NC_000001.11:g.207580401G>A	gnomAD
CR1	P17927	p.Pro1251Leu	rs368172549	missense variant	-	NC_000001.11:g.207580405C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1254Ser	rs770700783	missense variant	-	NC_000001.11:g.207580413G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1254Glu	rs776361283	missense variant	-	NC_000001.11:g.207580414C>A	ExAC,gnomAD
CR1	P17927	p.Cys1258Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580520G>C	NCI-TCGA
CR1	P17927	p.Phe1261Leu	rs1188706782	missense variant	-	NC_000001.11:g.207580530C>A	TOPMed,gnomAD
CR1	P17927	p.Phe1261Ile	rs1482459919	missense variant	-	NC_000001.11:g.207580528T>A	gnomAD
CR1	P17927	p.Leu1262Ser	rs772270332	missense variant	-	NC_000001.11:g.207580532T>C	ExAC,gnomAD
CR1	P17927	p.Gly1263Arg	rs1477327262	missense variant	-	NC_000001.11:g.207580534G>C	gnomAD
CR1	P17927	p.Gly1263Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580534G>T	NCI-TCGA
CR1	P17927	p.Leu1265Phe	rs773359118	missense variant	-	NC_000001.11:g.207580540C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1265Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580541T>C	NCI-TCGA
CR1	P17927	p.His1267Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580546C>G	NCI-TCGA
CR1	P17927	p.Gly1268Val	rs372833120	missense variant	-	NC_000001.11:g.207580550G>T	ESP,ExAC,gnomAD
CR1	P17927	p.Gly1268Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580549G>T	NCI-TCGA
CR1	P17927	p.Arg1269Cys	rs376975386	missense variant	-	NC_000001.11:g.207580552C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1269His	rs369632766	missense variant	-	NC_000001.11:g.207580553G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1270Met	rs1399695339	missense variant	-	NC_000001.11:g.207580555G>A	TOPMed,gnomAD
CR1	P17927	p.Pro1273Arg	rs752333319	missense variant	-	NC_000001.11:g.207580565C>G	ExAC,gnomAD
CR1	P17927	p.Pro1273Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580564C>T	NCI-TCGA
CR1	P17927	p.Leu1274Arg	rs1325680043	missense variant	-	NC_000001.11:g.207580568T>G	gnomAD
CR1	P17927	p.Asn1275Ile	rs762660563	missense variant	-	NC_000001.11:g.207580571A>T	ExAC,gnomAD
CR1	P17927	p.Leu1278Pro	rs763744346	missense variant	-	NC_000001.11:g.207580580T>C	ExAC,gnomAD
CR1	P17927	p.Gly1279Val	rs751016624	missense variant	-	NC_000001.11:g.207580583G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1279Glu	rs751016624	missense variant	-	NC_000001.11:g.207580583G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1280Glu	rs750420622	missense variant	-	NC_000001.11:g.207580586C>A	ExAC,gnomAD
CR1	P17927	p.Ala1280Ser	rs780954124	missense variant	-	NC_000001.11:g.207580585G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1281Asn	COSM4027639	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580590G>T	NCI-TCGA Cosmic
CR1	P17927	p.Lys1281Thr	rs755846047	missense variant	-	NC_000001.11:g.207580589A>C	ExAC,gnomAD
CR1	P17927	p.Lys1281Gln	rs1190970630	missense variant	-	NC_000001.11:g.207580588A>C	gnomAD
CR1	P17927	p.Val1282ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207580590_207580591insAGAGAAATCTGGAAGCCAGA	NCI-TCGA
CR1	P17927	p.Ser1283Tyr	rs780364837	missense variant	-	NC_000001.11:g.207580595C>A	ExAC,gnomAD
CR1	P17927	p.Val1285Ala	COSM256691	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207580601T>C	NCI-TCGA Cosmic
CR1	P17927	p.Val1285Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207580600G>T	NCI-TCGA
CR1	P17927	p.Cys1286Tyr	rs778163453	missense variant	-	NC_000001.11:g.207580604G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1287Asn	rs1344330313	missense variant	-	NC_000001.11:g.207580606G>A	gnomAD
CR1	P17927	p.Glu1288Asp	rs1409265368	missense variant	-	NC_000001.11:g.207580611A>C	TOPMed
CR1	P17927	p.Phe1290Ser	rs1439006454	missense variant	-	NC_000001.11:g.207581920T>C	TOPMed,gnomAD
CR1	P17927	p.Arg1291His	rs772031309	missense variant	-	NC_000001.11:g.207581923G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1291Pro	rs772031309	missense variant	-	NC_000001.11:g.207581923G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1291Cys	rs534155454	missense variant	-	NC_000001.11:g.207581922C>T	ExAC,gnomAD
CR1	P17927	p.Leu1292Ser	rs749615846	missense variant	-	NC_000001.11:g.207581926T>C	ExAC,gnomAD
CR1	P17927	p.Gly1294Asp	rs773976185	missense variant	-	NC_000001.11:g.207581932G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1296Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207581938C>T	NCI-TCGA
CR1	P17927	p.Val1297Ile	rs200884156	missense variant	-	NC_000001.11:g.207581940G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1300Trp	rs1332177319	missense variant	-	NC_000001.11:g.207581951T>G	gnomAD
CR1	P17927	p.Cys1300Gly	rs1271611232	missense variant	-	NC_000001.11:g.207581949T>G	TOPMed
CR1	P17927	p.Val1301Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207581953T>G	NCI-TCGA
CR1	P17927	p.Leu1302PhePheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207581956_207581957insCTAGTACTTCTTTTCCACCA	NCI-TCGA
CR1	P17927	p.Val1303Ile	rs772716917	missense variant	-	NC_000001.11:g.207581958G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1303Phe	rs772716917	missense variant	-	NC_000001.11:g.207581958G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1306Thr	rs375298677	missense variant	-	NC_000001.11:g.207581968G>C	ESP,ExAC,gnomAD
CR1	P17927	p.Ser1307Thr	rs754796667	missense variant	-	NC_000001.11:g.207581971G>C	ExAC,gnomAD
CR1	P17927	p.Ser1307Arg	rs765182428	missense variant	-	NC_000001.11:g.207581972C>A	ExAC,gnomAD
CR1	P17927	p.Trp1309Arg	rs1483053926	missense variant	-	NC_000001.11:g.207581976T>C	TOPMed
CR1	P17927	p.Ser1312Asn	rs757433947	missense variant	-	NC_000001.11:g.207581986G>A	ExAC,gnomAD
CR1	P17927	p.Pro1314Ser	rs999675652	missense variant	-	NC_000001.11:g.207581991C>T	TOPMed,gnomAD
CR1	P17927	p.His1318Arg	rs758153459	missense variant	-	NC_000001.11:g.207584649A>G	ExAC,gnomAD
CR1	P17927	p.His1318Tyr	rs201880876	missense variant	-	NC_000001.11:g.207582003C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1318Leu	rs758153459	missense variant	-	NC_000001.11:g.207584649A>T	ExAC,gnomAD
CR1	P17927	p.Ile1319Asn	rs767742956	missense variant	-	NC_000001.11:g.207584652T>A	ExAC,gnomAD
CR1	P17927	p.Ile1319Thr	rs767742956	missense variant	-	NC_000001.11:g.207584652T>C	ExAC,gnomAD
CR1	P17927	p.Phe1320Leu	COSM903173	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584656T>G	NCI-TCGA Cosmic
CR1	P17927	p.Phe1320Ile	rs1188554576	missense variant	-	NC_000001.11:g.207584654T>A	TOPMed
CR1	P17927	p.Cys1321Ter	rs750654400	stop gained	-	NC_000001.11:g.207584659T>A	ExAC,gnomAD
CR1	P17927	p.Pro1322Gln	rs756168060	missense variant	-	NC_000001.11:g.207584661C>A	ExAC,gnomAD
CR1	P17927	p.Pro1322Thr	rs1378690568	missense variant	-	NC_000001.11:g.207584660C>A	gnomAD
CR1	P17927	p.Pro1322Ser	rs1378690568	missense variant	-	NC_000001.11:g.207584660C>T	gnomAD
CR1	P17927	p.Pro1325Ser	COSM3864331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584669C>T	NCI-TCGA Cosmic
CR1	P17927	p.Ala1326Ser	rs1387510234	missense variant	-	NC_000001.11:g.207584672G>T	gnomAD
CR1	P17927	p.Ile1327Thr	rs1297147019	missense variant	-	NC_000001.11:g.207584676T>C	gnomAD
CR1	P17927	p.Ile1327Leu	rs753917143	missense variant	-	NC_000001.11:g.207584675A>C	ExAC,gnomAD
CR1	P17927	p.Arg1331Lys	rs1406213894	missense variant	-	NC_000001.11:g.207584688G>A	gnomAD
CR1	P17927	p.His1332Tyr	rs779307539	missense variant	-	NC_000001.11:g.207584690C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1333Lys	rs772363143	missense variant	-	NC_000001.11:g.207584694C>A	ExAC,gnomAD
CR1	P17927	p.Thr1333Ala	rs748505080	missense variant	-	NC_000001.11:g.207584693A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1334Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207584697G>A	NCI-TCGA
CR1	P17927	p.Thr1335Asn	rs777457095	missense variant	-	NC_000001.11:g.207584700C>A	ExAC,gnomAD
CR1	P17927	p.Pro1336Ala	rs1354101840	missense variant	-	NC_000001.11:g.207584702C>G	gnomAD
CR1	P17927	p.Pro1336Leu	rs746715976	missense variant	-	NC_000001.11:g.207584703C>T	ExAC,gnomAD
CR1	P17927	p.Gly1338Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207584709G>A	NCI-TCGA
CR1	P17927	p.Asp1339Glu	rs1285555817	missense variant	-	NC_000001.11:g.207584713T>A	gnomAD
CR1	P17927	p.Pro1341Arg	rs776215792	missense variant	-	NC_000001.11:g.207584718C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1341Ser	rs770561633	missense variant	-	NC_000001.11:g.207584717C>T	ExAC,gnomAD
CR1	P17927	p.Pro1341Leu	rs776215792	missense variant	-	NC_000001.11:g.207584718C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr1342Ser	rs752282568	missense variant	-	NC_000001.11:g.207584721A>C	TOPMed,gnomAD
CR1	P17927	p.Gly1343Glu	COSM3482719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584724G>A	NCI-TCGA Cosmic
CR1	P17927	p.Gly1343Arg	COSM3482717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584723G>A	NCI-TCGA Cosmic
CR1	P17927	p.Gly1343Ala	rs759130591	missense variant	-	NC_000001.11:g.207584724G>C	ExAC,gnomAD
CR1	P17927	p.Glu1345Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207584729G>T	NCI-TCGA
CR1	P17927	p.Ile1346Val	rs1341724706	missense variant	-	NC_000001.11:g.207584732A>G	TOPMed
CR1	P17927	p.Ser1347Thr	rs769723094	missense variant	-	NC_000001.11:g.207584735T>A	ExAC,gnomAD
CR1	P17927	p.Tyr1348Ser	rs1440675443	missense variant	-	NC_000001.11:g.207584739A>C	gnomAD
CR1	P17927	p.Thr1349Ile	rs1358225488	missense variant	-	NC_000001.11:g.207584742C>T	gnomAD
CR1	P17927	p.Cys1350Ser	rs1312864919	missense variant	-	NC_000001.11:g.207584744T>A	TOPMed
CR1	P17927	p.Asp1351Glu	rs938044503	missense variant	-	NC_000001.11:g.207584749C>A	TOPMed,gnomAD
CR1	P17927	p.Pro1352Ser	rs915609384	missense variant	-	NC_000001.11:g.207584750C>T	-
CR1	P17927	p.Gly1357Trp	rs762783325	missense variant	-	NC_000001.11:g.207584765G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1357Arg	rs762783325	missense variant	-	NC_000001.11:g.207584765G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1359Asn	rs541225690	missense variant	-	NC_000001.11:g.207584772C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1361Lys	rs1377622516	missense variant	-	NC_000001.11:g.207584779C>A	gnomAD
CR1	P17927	p.Leu1362Ile	rs1239127035	missense variant	-	NC_000001.11:g.207584780C>A	gnomAD
CR1	P17927	p.Ile1363Ser	rs199598381	missense variant	-	NC_000001.11:g.207584784T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1363Thr	rs199598381	missense variant	-	NC_000001.11:g.207584784T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1363Val	rs766599172	missense variant	-	NC_000001.11:g.207584783A>G	ExAC,gnomAD
CR1	P17927	p.Ile1368Thr	rs1459694440	missense variant	-	NC_000001.11:g.207584799T>C	TOPMed
CR1	P17927	p.Arg1369Cys	rs753192761	missense variant	-	NC_000001.11:g.207584801C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1369His	rs758774471	missense variant	-	NC_000001.11:g.207584802G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1370Tyr	rs1260973761	missense variant	-	NC_000001.11:g.207584805G>A	TOPMed
CR1	P17927	p.Cys1370Arg	rs778066743	missense variant	-	NC_000001.11:g.207584804T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1374Leu	rs747384502	missense variant	-	NC_000001.11:g.207584817C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1374His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207584817C>A	NCI-TCGA
CR1	P17927	p.His1375Arg	rs998252826	missense variant	-	NC_000001.11:g.207584820A>G	gnomAD
CR1	P17927	p.His1375Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207584819C>G	NCI-TCGA
CR1	P17927	p.Gly1376Glu	COSM3482723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584823G>A	NCI-TCGA Cosmic
CR1	P17927	p.Gly1378Arg	rs1367555644	missense variant	-	NC_000001.11:g.207584828G>A	gnomAD
CR1	P17927	p.Gly1378Ala	rs781014972	missense variant	-	NC_000001.11:g.207584829G>C	ExAC,TOPMed
CR1	P17927	p.Val1379Ile	rs372603184	missense variant	-	NC_000001.11:g.207584831G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1381Arg	rs769231887	missense variant	-	NC_000001.11:g.207584839C>A	ExAC,gnomAD
CR1	P17927	p.Ser1381Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207584838G>A	NCI-TCGA
CR1	P17927	p.Ser1382Asn	rs574578676	missense variant	-	NC_000001.11:g.207584841G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1383Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207584844C>T	NCI-TCGA
CR1	P17927	p.Arg1386His	rs180889860	missense variant	-	NC_000001.11:g.207584853G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1386Ser	rs762859978	missense variant	-	NC_000001.11:g.207584852C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1386Leu	rs180889860	missense variant	-	NC_000001.11:g.207584853G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1386Cys	rs762859978	missense variant	-	NC_000001.11:g.207584852C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1389Phe	COSM3482727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207584861C>T	NCI-TCGA Cosmic
CR1	P17927	p.Leu1389Pro	rs1217503383	missense variant	-	NC_000001.11:g.207584862T>C	TOPMed
CR1	P17927	p.Arg1392Cys	rs766544117	missense variant	-	NC_000001.11:g.207584870C>T	ExAC,gnomAD
CR1	P17927	p.Arg1392His	rs200621891	missense variant	-	NC_000001.11:g.207584871G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1392Leu	rs200621891	missense variant	-	NC_000001.11:g.207584871G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1399Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207587401C>A	NCI-TCGA
CR1	P17927	p.Pro1399Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207587400C>A	NCI-TCGA
CR1	P17927	p.Glu1400Lys	rs1222143870	missense variant	-	NC_000001.11:g.207587403G>A	TOPMed
CR1	P17927	p.Pro1403Thr	rs1041763191	missense variant	-	NC_000001.11:g.207587412C>A	TOPMed
CR1	P17927	p.Ala1405Thr	COSM903177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207587418G>A	NCI-TCGA Cosmic
CR1	P17927	p.Ser1406Arg	rs1357145728	missense variant	-	NC_000001.11:g.207587421A>C	TOPMed,gnomAD
CR1	P17927	p.Thr1408Met	rs3737002	missense variant	-	NC_000001.11:g.207587428C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1408Met	rs3737002	missense variant	-	NC_000001.11:g.207587428C>T	UniProt,dbSNP
CR1	P17927	p.Thr1408Met	VAR_020263	missense variant	-	NC_000001.11:g.207587428C>T	UniProt
CR1	P17927	p.Thr1408Ala	rs61734514	missense variant	-	NC_000001.11:g.207587427A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1408Ser	rs61734514	missense variant	-	NC_000001.11:g.207587427A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1408Ile	VAR_013820	Missense	-	-	UniProt
CR1	P17927	p.Ile1409Val	rs771849735	missense variant	-	NC_000001.11:g.207587430A>G	ExAC,gnomAD
CR1	P17927	p.Ile1411Val	rs772924634	missense variant	-	NC_000001.11:g.207587436A>G	ExAC,gnomAD
CR1	P17927	p.Asp1413Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207587443A>G	NCI-TCGA
CR1	P17927	p.Phe1414Val	rs746835144	missense variant	-	NC_000001.11:g.207587445T>G	ExAC,gnomAD
CR1	P17927	p.Glu1415Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207587450G>T	NCI-TCGA
CR1	P17927	p.Phe1416Leu	rs1398437815	missense variant	-	NC_000001.11:g.207587453T>G	TOPMed
CR1	P17927	p.Gly1419Arg	rs191896925	missense variant	-	NC_000001.11:g.207587460G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1420Lys	rs764321659	missense variant	-	NC_000001.11:g.207587464C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1420Ile	rs764321659	missense variant	-	NC_000001.11:g.207587464C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1425Asp	rs1473208393	missense variant	-	NC_000001.11:g.207587480A>T	TOPMed
CR1	P17927	p.Cys1426Tyr	rs376393868	missense variant	-	NC_000001.11:g.207587482G>A	ESP,ExAC,gnomAD
CR1	P17927	p.Arg1427Cys	rs371604171	missense variant	-	NC_000001.11:g.207587484C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1427His	rs373049995	missense variant	-	NC_000001.11:g.207587485G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1428Leu	COSM4936268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207587488C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro1428Ser	rs377376915	missense variant	-	NC_000001.11:g.207587487C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1428Ala	rs377376915	missense variant	-	NC_000001.11:g.207587487C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1431Ser	rs754470032	missense variant	-	NC_000001.11:g.207587497T>C	ExAC,gnomAD
CR1	P17927	p.Met1434Ile	rs140566582	missense variant	-	NC_000001.11:g.207587507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1434Thr	rs1296600917	missense variant	-	NC_000001.11:g.207587506T>C	gnomAD
CR1	P17927	p.Phe1435Leu	rs758273020	missense variant	-	NC_000001.11:g.207587508T>C	ExAC,gnomAD
CR1	P17927	p.Ser1436Cys	COSM425179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207587512C>G	NCI-TCGA Cosmic
CR1	P17927	p.Ile1437Ser	rs1334108927	missense variant	-	NC_000001.11:g.207587515T>G	TOPMed
CR1	P17927	p.Ile1437Val	rs375303129	missense variant	-	NC_000001.11:g.207587514A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1438Pro	rs746742487	missense variant	-	NC_000001.11:g.207587517T>C	ExAC,gnomAD
CR1	P17927	p.Ser1438Phe	rs760533167	missense variant	-	NC_000001.11:g.207587518C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1442Tyr	rs780119469	missense variant	-	NC_000001.11:g.207587529A>T	ExAC,gnomAD
CR1	P17927	p.Val1444Leu	rs1379691879	missense variant	-	NC_000001.11:g.207587535G>C	TOPMed
CR1	P17927	p.Val1444Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207587535G>A	NCI-TCGA
CR1	P17927	p.Trp1445Ter	rs1237422285	stop gained	-	NC_000001.11:g.207587540G>A	gnomAD
CR1	P17927	p.Glu1449Gly	rs768856371	missense variant	-	NC_000001.11:g.207587551A>G	ExAC,gnomAD
CR1	P17927	p.Asp1450Glu	rs774509906	missense variant	-	NC_000001.11:g.207587555C>G	ExAC,gnomAD
CR1	P17927	p.Arg1454Ter	rs772663179	stop gained	-	NC_000001.11:g.207587565C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1456Pro	rs1415681711	missense variant	-	NC_000001.11:g.207588680T>C	gnomAD
CR1	P17927	p.Gly1458Glu	rs764830223	missense variant	-	NC_000001.11:g.207588687G>A	ExAC,gnomAD
CR1	P17927	p.Pro1461Ser	rs994545485	missense variant	-	NC_000001.11:g.207588695C>T	TOPMed
CR1	P17927	p.Asn1465Ser	rs775164766	missense variant	-	NC_000001.11:g.207588708A>G	ExAC,gnomAD
CR1	P17927	p.Gly1466Arg	rs763721189	missense variant	-	NC_000001.11:g.207588710G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1467Ile	rs751449981	missense variant	-	NC_000001.11:g.207588715G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1467Ile	rs751449981	missense variant	-	NC_000001.11:g.207588715G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1468Leu	rs764234936	missense variant	-	NC_000001.11:g.207588716G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1468Met	rs764234936	missense variant	-	NC_000001.11:g.207588716G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1470Val	rs374969058	missense variant	-	NC_000001.11:g.207588722A>G	ESP,TOPMed,gnomAD
CR1	P17927	p.Asn1471Ile	rs750199221	missense variant	-	NC_000001.11:g.207588726A>T	ExAC,gnomAD
CR1	P17927	p.Asp1473Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207588732A>C	NCI-TCGA
CR1	P17927	p.Gln1475Ter	rs756008385	stop gained	-	NC_000001.11:g.207588737C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1479Ile	rs200076672	missense variant	-	NC_000001.11:g.207588750C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1480Ile	rs1201946731	missense variant	-	NC_000001.11:g.207588752G>A	TOPMed,gnomAD
CR1	P17927	p.Asn1481Ser	rs1278996767	missense variant	-	NC_000001.11:g.207588756A>G	gnomAD
CR1	P17927	p.Ser1483Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207588762C>T	NCI-TCGA
CR1	P17927	p.Ser1483Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207588762C>A	NCI-TCGA
CR1	P17927	p.Gly1487Val	rs1451376441	missense variant	-	NC_000001.11:g.207588774G>T	TOPMed
CR1	P17927	p.Arg1489Gln	rs568081345	missense variant	-	NC_000001.11:g.207607256G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1489Leu	rs568081345	missense variant	-	NC_000001.11:g.207607256G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1489Ter	rs778591697	stop gained	-	NC_000001.11:g.207607255C>T	ExAC,gnomAD
CR1	P17927	p.Ile1491Ser	COSM4027643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207607262T>G	NCI-TCGA Cosmic
CR1	P17927	p.Gly1492Val	rs1477895048	missense variant	-	NC_000001.11:g.207607265G>T	gnomAD
CR1	P17927	p.Thr1497Ile	rs746434908	missense variant	-	NC_000001.11:g.207607280C>T	ExAC,gnomAD
CR1	P17927	p.Cys1498Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207607283G>T	NCI-TCGA
CR1	P17927	p.Leu1499Ile	rs770142826	missense variant	-	NC_000001.11:g.207607285C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1499Phe	rs770142826	missense variant	-	NC_000001.11:g.207607285C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1500Phe	rs749631959	missense variant	-	NC_000001.11:g.207607288G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1500Ile	rs749631959	missense variant	-	NC_000001.11:g.207607288G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1503Ser	rs773911565	missense variant	-	NC_000001.11:g.207607298A>G	ExAC,gnomAD
CR1	P17927	p.Val1505Ile	rs1231788014	missense variant	-	NC_000001.11:g.207607303G>A	gnomAD
CR1	P17927	p.Lys1510Ter	rs1311272096	stop gained	-	NC_000001.11:g.207607318A>T	gnomAD
CR1	P17927	p.Lys1510Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207607320G>T	NCI-TCGA
CR1	P17927	p.Ala1511Pro	rs761361183	missense variant	-	NC_000001.11:g.207607321G>C	ExAC,gnomAD
CR1	P17927	p.Pro1512Thr	rs771537444	missense variant	-	NC_000001.11:g.207607324C>A	ExAC,gnomAD
CR1	P17927	p.Ile1513Thr	rs773275472	missense variant	-	NC_000001.11:g.207607328T>C	ExAC,gnomAD
CR1	P17927	p.Ile1517Val	rs772788078	missense variant	-	NC_000001.11:g.207609292A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1517Leu	rs772788078	missense variant	-	NC_000001.11:g.207609292A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1518Tyr	rs1034658211	missense variant	-	NC_000001.11:g.207609296C>A	TOPMed,gnomAD
CR1	P17927	p.Ser1518Pro	rs1458471535	missense variant	-	NC_000001.11:g.207609295T>C	gnomAD
CR1	P17927	p.Ser1518Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609296C>T	NCI-TCGA
CR1	P17927	p.Pro1522Leu	rs375894322	missense variant	-	NC_000001.11:g.207609308C>T	ESP,TOPMed
CR1	P17927	p.Pro1523Leu	rs1247963049	missense variant	-	NC_000001.11:g.207609311C>T	gnomAD
CR1	P17927	p.Ile1525Val	rs760282783	missense variant	-	NC_000001.11:g.207609316A>G	ExAC,gnomAD
CR1	P17927	p.Ile1525Thr	rs1165042935	missense variant	-	NC_000001.11:g.207609317T>C	TOPMed,gnomAD
CR1	P17927	p.Ser1526Tyr	rs117571325	missense variant	-	NC_000001.11:g.207609320C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1526Pro	rs1184699500	missense variant	-	NC_000001.11:g.207609319T>C	TOPMed
CR1	P17927	p.Ser1526Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609320C>G	NCI-TCGA
CR1	P17927	p.Asn1527Ser	rs776473566	missense variant	-	NC_000001.11:g.207609323A>G	ExAC,gnomAD
CR1	P17927	p.Asp1529Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609329A>T	NCI-TCGA
CR1	P17927	p.Ser1532Asn	COSM1338438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609338G>A	NCI-TCGA Cosmic
CR1	P17927	p.Ser1532Gly	rs189863730	missense variant	-	NC_000001.11:g.207609337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1534Ser	rs765001077	missense variant	-	NC_000001.11:g.207609344A>G	ExAC,gnomAD
CR1	P17927	p.Asn1534Tyr	rs1273830420	missense variant	-	NC_000001.11:g.207609343A>T	gnomAD
CR1	P17927	p.Ser1537Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609353C>A	NCI-TCGA
CR1	P17927	p.Phe1538Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609357T>G	NCI-TCGA
CR1	P17927	p.Asn1540Ser	rs17259045	missense variant	-	NC_000001.11:g.207609362A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1541Ter	rs1263915207	stop gained	-	NC_000001.11:g.207609364G>T	TOPMed
CR1	P17927	p.Gly1541Glu	rs750458018	missense variant	-	NC_000001.11:g.207609365G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1542Met	rs376660723	missense variant	-	NC_000001.11:g.207609368C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1544Leu	COSM6123951	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609373G>T	NCI-TCGA Cosmic
CR1	P17927	p.Gln1547Lys	rs1204262968	missense variant	-	NC_000001.11:g.207609382C>A	gnomAD
CR1	P17927	p.Cys1548Ter	rs755362456	stop gained	-	NC_000001.11:g.207609387C>A	ExAC,gnomAD
CR1	P17927	p.Thr1550Ile	rs779078224	missense variant	-	NC_000001.11:g.207609392C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1551Ala	rs1182031602	missense variant	-	NC_000001.11:g.207609395G>C	TOPMed,gnomAD
CR1	P17927	p.Pro1552Gln	rs370954317	missense variant	-	NC_000001.11:g.207609398C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1552Ser	rs1256403834	missense variant	-	NC_000001.11:g.207609397C>T	gnomAD
CR1	P17927	p.Pro1552Arg	rs370954317	missense variant	-	NC_000001.11:g.207609398C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1553Glu	rs899715184	missense variant	-	NC_000001.11:g.207609402T>G	TOPMed,gnomAD
CR1	P17927	p.Gly1554Arg	rs907980596	missense variant	-	NC_000001.11:g.207609403G>A	TOPMed,gnomAD
CR1	P17927	p.Glu1555Lys	rs374281717	missense variant	-	NC_000001.11:g.207609406G>A	ESP,ExAC,gnomAD
CR1	P17927	p.Gln1556His	rs746487023	missense variant	-	NC_000001.11:g.207609411G>C	ExAC,gnomAD
CR1	P17927	p.Leu1560Pro	rs1360636024	missense variant	-	NC_000001.11:g.207609422T>C	gnomAD
CR1	P17927	p.Val1561Met	rs41274768	missense variant	-	NC_000001.11:g.207609424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1564Gln	rs200742776	missense variant	-	NC_000001.11:g.207609434G>A	TOPMed,gnomAD
CR1	P17927	p.Arg1564Trp	rs370698774	missense variant	-	NC_000001.11:g.207609433C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1566Met	rs1341215006	missense variant	-	NC_000001.11:g.207609441A>G	gnomAD
CR1	P17927	p.Tyr1567His	rs1165035355	missense variant	-	NC_000001.11:g.207609442T>C	TOPMed,gnomAD
CR1	P17927	p.Cys1568Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207609447C>A	NCI-TCGA
CR1	P17927	p.Thr1569Pro	rs762762588	missense variant	-	NC_000001.11:g.207609448A>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1570Arg	rs767690665	missense variant	-	NC_000001.11:g.207609453C>A	ExAC,gnomAD
CR1	P17927	p.Ser1570Thr	rs1314265094	missense variant	-	NC_000001.11:g.207609452G>C	gnomAD
CR1	P17927	p.Ser1570Cys	rs1265485196	missense variant	-	NC_000001.11:g.207609451A>T	TOPMed
CR1	P17927	p.Lys1571Arg	rs575862611	missense variant	-	NC_000001.11:g.207609455A>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Asp1572Asn	rs1393043876	missense variant	-	NC_000001.11:g.207609457G>A	gnomAD
CR1	P17927	p.Asp1573Gly	rs760727043	missense variant	-	NC_000001.11:g.207609461A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1574Ter	rs766431816	stop gained	-	NC_000001.11:g.207609463C>T	ExAC,gnomAD
CR1	P17927	p.Val1575Ala	rs1257486895	missense variant	-	NC_000001.11:g.207609467T>C	TOPMed
CR1	P17927	p.Trp1578Ter	rs1216947356	stop gained	-	NC_000001.11:g.207609477G>A	TOPMed
CR1	P17927	p.Pro1581Arg	rs374732257	missense variant	-	NC_000001.11:g.207609485C>G	ESP,TOPMed
CR1	P17927	p.Pro1581Ser	rs753954835	missense variant	-	NC_000001.11:g.207609484C>T	ExAC,gnomAD
CR1	P17927	p.Pro1582Ser	rs947565628	missense variant	-	NC_000001.11:g.207609487C>T	gnomAD
CR1	P17927	p.Pro1583Thr	rs769058005	missense variant	-	NC_000001.11:g.207609490C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1583LeuPheSerTerUnkUnk	COSM5111954	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207609487C>-	NCI-TCGA Cosmic
CR1	P17927	p.Pro1583His	rs544740223	missense variant	-	NC_000001.11:g.207609491C>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1583Ser	rs769058005	missense variant	-	NC_000001.11:g.207609490C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1583Leu	rs544740223	missense variant	-	NC_000001.11:g.207609491C>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1583Arg	rs544740223	missense variant	-	NC_000001.11:g.207609491C>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1584Gln	rs370975278	missense variant	-	NC_000001.11:g.207609494G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1584Trp	rs746717987	missense variant	-	NC_000001.11:g.207609493C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1584Leu	rs370975278	missense variant	-	NC_000001.11:g.207609494G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1587Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609503C>T	NCI-TCGA
CR1	P17927	p.Thr1588Ala	rs1433020893	missense variant	-	NC_000001.11:g.207609505A>G	gnomAD
CR1	P17927	p.Lys1590Glu	rs17047660	missense variant	-	NC_000001.11:g.207609511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1595Asp	rs533388914	missense variant	-	NC_000001.11:g.207609528A>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1595Lys	rs1287596712	missense variant	-	NC_000001.11:g.207609526G>A	gnomAD
CR1	P17927	p.Val1596Ala	rs769571841	missense variant	-	NC_000001.11:g.207609530T>C	ExAC,gnomAD
CR1	P17927	p.Val1596Phe	rs1220161506	missense variant	-	NC_000001.11:g.207609529G>T	gnomAD
CR1	P17927	p.Asn1598Ser	rs1346190010	missense variant	-	NC_000001.11:g.207609536A>G	gnomAD
CR1	P17927	p.Ala1599Gly	rs1270011121	missense variant	-	NC_000001.11:g.207609539C>G	gnomAD
CR1	P17927	p.Ile1600Thr	rs371865023	missense variant	-	NC_000001.11:g.207609542T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1600Val	rs917368537	missense variant	-	NC_000001.11:g.207609541A>G	TOPMed,gnomAD
CR1	P17927	p.Arg1601Thr	rs1248372125	missense variant	-	NC_000001.11:g.207609545G>C	gnomAD
CR1	P17927	p.Arg1601Gly	rs17047661	missense variant	-	NC_000001.11:g.207609544A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1603Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609551C>A	NCI-TCGA
CR1	P17927	p.Gly1604Ala	rs773415681	missense variant	-	NC_000001.11:g.207609554G>C	ExAC,gnomAD
CR1	P17927	p.Asn1605Asp	rs1250844597	missense variant	-	NC_000001.11:g.207609556A>G	gnomAD
CR1	P17927	p.Arg1606Ser	rs560078703	missense variant	-	NC_000001.11:g.207609561G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1606Lys	rs1237809573	missense variant	-	NC_000001.11:g.207609560G>A	TOPMed
CR1	P17927	p.Ser1607Gly	rs367926730	missense variant	-	NC_000001.11:g.207609562A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1608Leu	COSM1202229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609567C>A	NCI-TCGA Cosmic
CR1	P17927	p.Thr1610Asn	rs759691846	missense variant	-	NC_000001.11:g.207609572C>A	ExAC,gnomAD
CR1	P17927	p.Ser1610Thr	rs4844609	missense variant	-	NC_000001.11:g.207609571A>T	UniProt,dbSNP
CR1	P17927	p.Ser1610Thr	VAR_013823	missense variant	-	NC_000001.11:g.207609571A>T	UniProt
CR1	P17927	p.Thr1610Ser	rs4844609	missense variant	-	NC_000001.11:g.207609571A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1610Thr	VAR_013823	Missense	-	-	UniProt
CR1	P17927	p.Thr1612Ser	rs753306326	missense variant	-	NC_000001.11:g.207609578C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1612Ile	rs753306326	missense variant	-	NC_000001.11:g.207609578C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1613Val	rs1344284047	missense variant	-	NC_000001.11:g.207609581A>T	TOPMed
CR1	P17927	p.Ile1614Thr	rs764620269	missense variant	-	NC_000001.11:g.207609584T>C	ExAC,gnomAD
CR1	P17927	p.Ile1615Val	rs6691117	missense variant	-	NC_000001.11:g.207609586A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1615Val	rs6691117	missense variant	-	NC_000001.11:g.207609586A>G	UniProt,dbSNP
CR1	P17927	p.Ile1615Val	VAR_013824	missense variant	-	NC_000001.11:g.207609586A>G	UniProt
CR1	P17927	p.Arg1616Lys	rs369185924	missense variant	-	NC_000001.11:g.207609590G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1617Leu	rs745333008	missense variant	-	NC_000001.11:g.207609594T>G	ExAC,gnomAD
CR1	P17927	p.Arg1618Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609596G>T	NCI-TCGA
CR1	P17927	p.Pro1621Ser	COSM1338440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609604C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro1621Leu	rs1212938694	missense variant	-	NC_000001.11:g.207609605C>T	gnomAD
CR1	P17927	p.Gly1622Glu	COSM4554437	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609608G>A	NCI-TCGA Cosmic
CR1	P17927	p.Gly1622Arg	rs768582642	missense variant	-	NC_000001.11:g.207609607G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1622Arg	rs768582642	missense variant	-	NC_000001.11:g.207609607G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1622Val	rs180783183	missense variant	-	NC_000001.11:g.207609608G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Met1625Leu	rs1469875213	missense variant	-	NC_000001.11:g.207609616A>C	gnomAD
CR1	P17927	p.Val1626Gly	rs921199166	missense variant	-	NC_000001.11:g.207609620T>G	TOPMed
CR1	P17927	p.Gly1627Glu	rs914840013	missense variant	-	NC_000001.11:g.207609623G>A	TOPMed,gnomAD
CR1	P17927	p.Gly1627Val	rs914840013	missense variant	-	NC_000001.11:g.207609623G>T	TOPMed,gnomAD
CR1	P17927	p.Gly1627Arg	rs769853928	missense variant	-	NC_000001.11:g.207609622G>A	ExAC,gnomAD
CR1	P17927	p.His1629Pro	COSM3864333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207609629A>C	NCI-TCGA Cosmic
CR1	P17927	p.His1629Asn	rs1164800111	missense variant	-	NC_000001.11:g.207609628C>A	gnomAD
CR1	P17927	p.Thr1630Ala	rs776145460	missense variant	-	NC_000001.11:g.207609631A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1630Ile	rs1467500596	missense variant	-	NC_000001.11:g.207609632C>T	gnomAD
CR1	P17927	p.Thr1630Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609632C>A	NCI-TCGA
CR1	P17927	p.Val1631Met	rs1330051836	missense variant	-	NC_000001.11:g.207609634G>A	TOPMed,gnomAD
CR1	P17927	p.Cys1633Trp	rs1473975413	missense variant	-	NC_000001.11:g.207609642C>G	gnomAD
CR1	P17927	p.Asn1636Ser	rs371538818	missense variant	-	NC_000001.11:g.207609650A>G	1000Genomes,ESP,ExAC,gnomAD
CR1	P17927	p.Asn1636Lys	rs533857968	missense variant	-	NC_000001.11:g.207609651T>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1637Asp	rs555635198	missense variant	-	NC_000001.11:g.207609653G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp1639Cys	rs1232192451	missense variant	-	NC_000001.11:g.207609660G>C	gnomAD
CR1	P17927	p.Pro1641Ser	rs1319989653	missense variant	-	NC_000001.11:g.207609664C>T	gnomAD
CR1	P17927	p.Pro1641Thr	rs1319989653	missense variant	-	NC_000001.11:g.207609664C>A	gnomAD
CR1	P17927	p.Pro1641Leu	rs1209582751	missense variant	-	NC_000001.11:g.207609665C>T	TOPMed
CR1	P17927	p.Lys1642Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609667A>G	NCI-TCGA
CR1	P17927	p.Leu1643Val	rs201017229	missense variant	-	NC_000001.11:g.207609670C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.His1645Gln	rs1202650226	missense variant	-	NC_000001.11:g.207609678C>G	gnomAD
CR1	P17927	p.His1645Arg	rs1435892908	missense variant	-	NC_000001.11:g.207609677A>G	gnomAD
CR1	P17927	p.Ser1647Phe	rs753337004	missense variant	-	NC_000001.11:g.207609683C>T	ExAC,gnomAD
CR1	P17927	p.Arg1648Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207609685A>T	NCI-TCGA
CR1	P17927	p.Val1649Ala	rs541247689	missense variant	-	NC_000001.11:g.207611677T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1649Met	rs1201913115	missense variant	-	NC_000001.11:g.207609688G>A	TOPMed
CR1	P17927	p.Cys1650Tyr	rs752622979	missense variant	-	NC_000001.11:g.207611680G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1652Leu	rs561028518	missense variant	-	NC_000001.11:g.207611686C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1652Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611685C>T	NCI-TCGA
CR1	P17927	p.Pro1654Ser	rs746766655	missense variant	-	NC_000001.11:g.207611691C>T	ExAC,gnomAD
CR1	P17927	p.Glu1655Asp	rs1353446182	missense variant	-	NC_000001.11:g.207611696A>T	TOPMed
CR1	P17927	p.His1658Tyr	rs756406372	missense variant	-	NC_000001.11:g.207611703C>T	ExAC,gnomAD
CR1	P17927	p.Gly1659Ser	rs369023282	missense variant	-	NC_000001.11:g.207611706G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1661Arg	rs749407317	missense variant	-	NC_000001.11:g.207611713A>G	ExAC,gnomAD
CR1	P17927	p.Thr1662Ile	rs1205844405	missense variant	-	NC_000001.11:g.207611716C>T	gnomAD
CR1	P17927	p.Thr1662Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611715A>C	NCI-TCGA
CR1	P17927	p.Leu1663Pro	rs1261623331	missense variant	-	NC_000001.11:g.207611719T>C	gnomAD
CR1	P17927	p.Gln1666Glu	rs986157698	missense variant	-	NC_000001.11:g.207611727C>G	TOPMed
CR1	P17927	p.Gln1666Ter	rs986157698	stop gained	-	NC_000001.11:g.207611727C>T	TOPMed
CR1	P17927	p.Asn1668Lys	rs748760719	missense variant	-	NC_000001.11:g.207611735C>A	ExAC,gnomAD
CR1	P17927	p.Asn1668Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611734A>G	NCI-TCGA
CR1	P17927	p.Phe1669Ser	rs772448550	missense variant	-	NC_000001.11:g.207611737T>C	ExAC,gnomAD
CR1	P17927	p.Ser1670Leu	COSM3482731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611740C>T	NCI-TCGA Cosmic
CR1	P17927	p.Gly1672Glu	rs373376403	missense variant	-	NC_000001.11:g.207611746G>A	ESP,TOPMed,gnomAD
CR1	P17927	p.Gly1672Ala	rs373376403	missense variant	-	NC_000001.11:g.207611746G>C	ESP,TOPMed,gnomAD
CR1	P17927	p.Gln1673Arg	rs924076464	missense variant	-	NC_000001.11:g.207611749A>G	TOPMed
CR1	P17927	p.Glu1674Lys	rs760919810	missense variant	-	NC_000001.11:g.207611751G>A	ExAC,gnomAD
CR1	P17927	p.Val1675Leu	rs202148801	missense variant	-	NC_000001.11:g.207611754G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1675Leu	rs202148801	missense variant	-	NC_000001.11:g.207611754G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1679Ser	rs759061317	missense variant	-	NC_000001.11:g.207611767G>C	ExAC,gnomAD
CR1	P17927	p.Pro1681His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611773C>A	NCI-TCGA
CR1	P17927	p.Ser1682Cys	COSM1730268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611775A>T	NCI-TCGA Cosmic
CR1	P17927	p.Ser1682Gly	rs1438489971	missense variant	-	NC_000001.11:g.207611775A>G	gnomAD
CR1	P17927	p.Tyr1683Cys	rs1337815492	missense variant	-	NC_000001.11:g.207611779A>G	gnomAD
CR1	P17927	p.Asp1684Tyr	rs752143975	missense variant	-	NC_000001.11:g.207611781G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1684Gly	rs563184105	missense variant	-	NC_000001.11:g.207611782A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1686Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611788G>T	NCI-TCGA
CR1	P17927	p.Gly1687Glu	rs751408730	missense variant	-	NC_000001.11:g.207611791G>A	ExAC,gnomAD
CR1	P17927	p.Gly1687Arg	rs948071511	missense variant	-	NC_000001.11:g.207611790G>C	TOPMed
CR1	P17927	p.Ala1688Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611794C>T	NCI-TCGA
CR1	P17927	p.Ala1689Thr	rs767319586	missense variant	-	NC_000001.11:g.207611796G>A	gnomAD
CR1	P17927	p.Ala1689Val	rs757075631	missense variant	-	NC_000001.11:g.207611797C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1690Phe	rs780442691	missense variant	-	NC_000001.11:g.207611800C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1690Cys	rs780442691	missense variant	-	NC_000001.11:g.207611800C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1693Ser	COSM463861	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611808T>A	NCI-TCGA Cosmic
CR1	P17927	p.Cys1693Trp	rs1459023366	missense variant	-	NC_000001.11:g.207611810C>G	gnomAD
CR1	P17927	p.Cys1693Arg	rs779111590	missense variant	-	NC_000001.11:g.207611808T>C	ExAC,gnomAD
CR1	P17927	p.Thr1694Met	rs370389622	missense variant	-	NC_000001.11:g.207611812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1695Leu	rs773555762	missense variant	-	NC_000001.11:g.207611815C>T	ExAC,gnomAD
CR1	P17927	p.Gln1696His	rs551820345	missense variant	-	NC_000001.11:g.207611819G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1696Arg	rs1392117583	missense variant	-	NC_000001.11:g.207611818A>G	TOPMed,gnomAD
CR1	P17927	p.Gln1696Ter	rs1373788325	stop gained	-	NC_000001.11:g.207611817C>T	gnomAD
CR1	P17927	p.Asp1698Gly	rs1420240087	missense variant	-	NC_000001.11:g.207611824A>G	gnomAD
CR1	P17927	p.Asp1698Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611824A>C	NCI-TCGA
CR1	P17927	p.Trp1699Arg	rs1334013193	missense variant	-	NC_000001.11:g.207611826T>A	gnomAD
CR1	P17927	p.Ser1700Arg	rs879142327	missense variant	-	NC_000001.11:g.207611831C>A	gnomAD
CR1	P17927	p.Ser1700Asn	rs771230144	missense variant	-	NC_000001.11:g.207611830G>A	ExAC,gnomAD
CR1	P17927	p.Pro1701Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611832C>T	NCI-TCGA
CR1	P17927	p.Glu1702Lys	rs776271756	missense variant	-	NC_000001.11:g.207611835G>A	ExAC,gnomAD
CR1	P17927	p.Ala1703Val	rs759251578	missense variant	-	NC_000001.11:g.207611839C>T	ExAC,gnomAD
CR1	P17927	p.Arg1705Thr	rs1229306455	missense variant	-	NC_000001.11:g.207611845G>C	TOPMed
CR1	P17927	p.Cys1706Arg	rs1248026591	missense variant	-	NC_000001.11:g.207611847T>C	TOPMed,gnomAD
CR1	P17927	p.Cys1706Ser	rs1248026591	missense variant	-	NC_000001.11:g.207611847T>A	TOPMed,gnomAD
CR1	P17927	p.Ser1710Phe	COSM3482735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611945C>T	NCI-TCGA Cosmic
CR1	P17927	p.Ser1710Tyr	rs1436756688	missense variant	-	NC_000001.11:g.207611945C>A	gnomAD
CR1	P17927	p.Ser1710Pro	rs1307235096	missense variant	-	NC_000001.11:g.207611944T>C	TOPMed
CR1	P17927	p.Cys1711Arg	rs1271346895	missense variant	-	NC_000001.11:g.207611947T>C	TOPMed
CR1	P17927	p.Asp1712Val	rs781594483	missense variant	-	NC_000001.11:g.207611951A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1713Asn	rs1343228666	missense variant	-	NC_000001.11:g.207611953G>A	TOPMed
CR1	P17927	p.Phe1714Leu	rs1375084004	missense variant	-	NC_000001.11:g.207611956T>C	gnomAD
CR1	P17927	p.Phe1714Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611957T>A	NCI-TCGA
CR1	P17927	p.Leu1715Val	rs1413106257	missense variant	-	NC_000001.11:g.207611959C>G	gnomAD
CR1	P17927	p.Gln1717His	rs148593452	missense variant	-	NC_000001.11:g.207611967A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1717Ter	rs1363341014	stop gained	-	NC_000001.11:g.207611965C>T	gnomAD
CR1	P17927	p.Leu1718Ile	rs369825592	missense variant	-	NC_000001.11:g.207611968C>A	ExAC,gnomAD
CR1	P17927	p.Leu1718Val	rs369825592	missense variant	-	NC_000001.11:g.207611968C>G	ExAC,gnomAD
CR1	P17927	p.Pro1719Leu	COSM425181	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611972C>T	NCI-TCGA Cosmic
CR1	P17927	p.Pro1719Thr	rs774346056	missense variant	-	NC_000001.11:g.207611971C>A	ExAC,gnomAD
CR1	P17927	p.His1720Arg	COSM4836932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611975A>G	NCI-TCGA Cosmic
CR1	P17927	p.Gly1721Val	rs374085005	missense variant	-	NC_000001.11:g.207611978G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly1721Asp	rs374085005	missense variant	-	NC_000001.11:g.207611978G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly1721Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611978G>C	NCI-TCGA
CR1	P17927	p.Arg1722His	rs142767986	missense variant	-	NC_000001.11:g.207611981G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1722Cys	rs767544074	missense variant	-	NC_000001.11:g.207611980C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1723Met	COSM1317581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207611983G>A	NCI-TCGA Cosmic
CR1	P17927	p.Leu1725Phe	rs765521072	missense variant	-	NC_000001.11:g.207611989C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1725Pro	rs1353646442	missense variant	-	NC_000001.11:g.207611990T>C	TOPMed
CR1	P17927	p.Pro1726Arg	rs374983587	missense variant	-	NC_000001.11:g.207611993C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1727Phe	rs1254595228	missense variant	-	NC_000001.11:g.207611995C>T	gnomAD
CR1	P17927	p.Leu1727Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207611995C>G	NCI-TCGA
CR1	P17927	p.Asn1728His	rs1454572992	missense variant	-	NC_000001.11:g.207611998A>C	gnomAD
CR1	P17927	p.Leu1729Ile	COSM3803722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207612001C>A	NCI-TCGA Cosmic
CR1	P17927	p.Leu1729Val	rs1174465464	missense variant	-	NC_000001.11:g.207612001C>G	gnomAD
CR1	P17927	p.Gln1730His	rs1412818503	missense variant	-	NC_000001.11:g.207612006G>T	gnomAD
CR1	P17927	p.Leu1731Val	rs201229255	missense variant	-	NC_000001.11:g.207612007C>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ala1733Thr	rs1453603748	missense variant	-	NC_000001.11:g.207612013G>A	gnomAD
CR1	P17927	p.Lys1734Asn	rs150619703	missense variant	-	NC_000001.11:g.207612018G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1734Asn	rs150619703	missense variant	-	NC_000001.11:g.207612018G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1734Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207612017A>T	NCI-TCGA
CR1	P17927	p.Val1735Met	rs200258218	missense variant	-	NC_000001.11:g.207612019G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1735Leu	rs200258218	missense variant	-	NC_000001.11:g.207612019G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1736Phe	rs779766301	missense variant	-	NC_000001.11:g.207612023C>T	ExAC
CR1	P17927	p.Phe1737Cys	rs768346217	missense variant	-	NC_000001.11:g.207612026T>G	ExAC,gnomAD
CR1	P17927	p.Val1738Ala	rs774059529	missense variant	-	NC_000001.11:g.207612029T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1739Ter	rs761380715	stop gained	-	NC_000001.11:g.207612033C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1740Asn	rs376980117	missense variant	-	NC_000001.11:g.207612034G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1741Asp	rs1468733502	missense variant	-	NC_000001.11:g.207612039A>C	gnomAD
CR1	P17927	p.Glu1741Lys	rs1275018662	missense variant	-	NC_000001.11:g.207612037G>A	TOPMed,gnomAD
CR1	P17927	p.Gly1742Glu	rs1480058142	missense variant	-	NC_000001.11:g.207612041G>A	gnomAD
CR1	P17927	p.Gly1742Arg	rs760560895	missense variant	-	NC_000001.11:g.207612040G>A	ExAC,gnomAD
CR1	P17927	p.Arg1744Ter	rs55749440	stop gained	-	NC_000001.11:g.207614408C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1744Leu	rs55704352	missense variant	-	NC_000001.11:g.207614409G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1744Gln	rs55704352	missense variant	-	NC_000001.11:g.207614409G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1746Ile	rs1196832040	missense variant	-	NC_000001.11:g.207614415A>T	TOPMed
CR1	P17927	p.Gly1747Asp	rs200692346	missense variant	-	NC_000001.11:g.207614418G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1749Pro	rs756633578	missense variant	-	NC_000001.11:g.207614423T>C	ExAC,gnomAD
CR1	P17927	p.Ser1751Arg	rs1291393992	missense variant	-	NC_000001.11:g.207614429A>C	gnomAD
CR1	P17927	p.Ser1751Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207614430G>A	NCI-TCGA
CR1	P17927	p.His1752Arg	rs550889066	missense variant	-	NC_000001.11:g.207614433A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1754Ile	rs754189117	missense variant	-	NC_000001.11:g.207614438G>A	ExAC,gnomAD
CR1	P17927	p.Ala1756Pro	rs570636406	missense variant	-	NC_000001.11:g.207614444G>C	1000Genomes
CR1	P17927	p.Gly1757Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207614448G>C	NCI-TCGA
CR1	P17927	p.Met1758Ile	COSM3482739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207614452G>A	NCI-TCGA Cosmic
CR1	P17927	p.Met1758Thr	rs61822976	missense variant	-	NC_000001.11:g.207614451T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1760Val	COSM3864337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207614457C>T	NCI-TCGA Cosmic
CR1	P17927	p.Leu1761Phe	rs1336919776	missense variant	-	NC_000001.11:g.207614459C>T	TOPMed
CR1	P17927	p.Trp1762Ter	rs1228805744	stop gained	-	NC_000001.11:g.207614464G>A	TOPMed
CR1	P17927	p.Trp1762Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207614463G>A	NCI-TCGA
CR1	P17927	p.Asn1763Ser	rs1306489717	missense variant	-	NC_000001.11:g.207614466A>G	gnomAD
CR1	P17927	p.Ser1764Gly	rs758121969	missense variant	-	NC_000001.11:g.207614468A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1764Thr	rs1281844077	missense variant	-	NC_000001.11:g.207614469G>C	TOPMed
CR1	P17927	p.Ser1765Asn	rs1168924623	missense variant	-	NC_000001.11:g.207614472G>A	gnomAD
CR1	P17927	p.Ser1765Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207614472G>C	NCI-TCGA
CR1	P17927	p.Val1766Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207614474G>C	NCI-TCGA
CR1	P17927	p.Pro1767Ala	rs1419253581	missense variant	-	NC_000001.11:g.207614477C>G	gnomAD
CR1	P17927	p.Val1768Met	rs1201840624	missense variant	-	NC_000001.11:g.207614480G>A	gnomAD
CR1	P17927	p.Val1768Ala	rs191751915	missense variant	-	NC_000001.11:g.207614481T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1770Asp	COSM4939225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207614488A>C	NCI-TCGA Cosmic
CR1	P17927	p.Glu1770Ter	rs746506311	stop gained	-	NC_000001.11:g.207614486G>T	ExAC,gnomAD
CR1	P17927	p.Glu1770Ala	rs1346440746	missense variant	-	NC_000001.11:g.207614487A>C	TOPMed
CR1	P17927	p.Glu1770Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207614486G>A	NCI-TCGA
CR1	P17927	p.Gln1771Ter	rs1375478918	stop gained	-	NC_000001.11:g.207614489C>T	TOPMed,gnomAD
CR1	P17927	p.Pro1775Thr	rs370898285	missense variant	-	NC_000001.11:g.207616586C>A	ESP,TOPMed
CR1	P17927	p.Pro1775Ala	rs370898285	missense variant	-	NC_000001.11:g.207616586C>G	ESP,TOPMed
CR1	P17927	p.Asn1776Asp	rs1420504165	missense variant	-	NC_000001.11:g.207616589A>G	TOPMed,gnomAD
CR1	P17927	p.Pro1777Leu	rs781003292	missense variant	-	NC_000001.11:g.207616593C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1777Thr	rs544812366	missense variant	-	NC_000001.11:g.207616592C>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1777His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207616593C>A	NCI-TCGA
CR1	P17927	p.Pro1777Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207616592C>T	NCI-TCGA
CR1	P17927	p.Ile1780Thr	rs745750052	missense variant	-	NC_000001.11:g.207616602T>C	ExAC,gnomAD
CR1	P17927	p.Leu1781Pro	COSM3482743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616605T>C	NCI-TCGA Cosmic
CR1	P17927	p.Leu1781Phe	rs779879645	missense variant	-	NC_000001.11:g.207616604C>T	ExAC,gnomAD
CR1	P17927	p.Gly1783Arg	rs749055778	missense variant	-	NC_000001.11:g.207616610G>A	ExAC,gnomAD
CR1	P17927	p.Gly1783Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207616611G>A	NCI-TCGA
CR1	P17927	p.Arg1784Lys	rs879020751	missense variant	-	NC_000001.11:g.207616614G>A	gnomAD
CR1	P17927	p.His1785Tyr	COSM4027651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616616C>T	NCI-TCGA Cosmic
CR1	P17927	p.His1785Leu	COSM4940337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616617A>T	NCI-TCGA Cosmic
CR1	P17927	p.Thr1786Ile	rs772317721	missense variant	-	NC_000001.11:g.207616620C>T	ExAC
CR1	P17927	p.Gly1787Glu	rs564952548	missense variant	-	NC_000001.11:g.207616623G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1788Ala	COSM678849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616625A>G	NCI-TCGA Cosmic
CR1	P17927	p.Thr1788Asn	COSM5097786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616626C>A	NCI-TCGA Cosmic
CR1	P17927	p.Thr1788Pro	rs760688003	missense variant	-	NC_000001.11:g.207616625A>C	ExAC,gnomAD
CR1	P17927	p.Pro1789Ser	rs770979910	missense variant	-	NC_000001.11:g.207616628C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1789Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207616629C>T	NCI-TCGA
CR1	P17927	p.Pro1789His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207616629C>A	NCI-TCGA
CR1	P17927	p.Phe1790Ser	rs1239921010	missense variant	-	NC_000001.11:g.207616632T>C	TOPMed,gnomAD
CR1	P17927	p.Gly1791Glu	COSM1928538	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616635G>A	NCI-TCGA Cosmic
CR1	P17927	p.Asp1792Tyr	rs760180458	missense variant	-	NC_000001.11:g.207616637G>T	NCI-TCGA
CR1	P17927	p.Asp1792Tyr	rs760180458	missense variant	-	NC_000001.11:g.207616637G>T	ExAC,gnomAD
CR1	P17927	p.Asp1792Gly	rs765817364	missense variant	-	NC_000001.11:g.207616638A>G	ExAC,gnomAD
CR1	P17927	p.Pro1794Leu	COSM3482745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616644C>T	NCI-TCGA Cosmic
CR1	P17927	p.Gly1796Ter	rs1028304802	stop gained	-	NC_000001.11:g.207616649G>T	TOPMed
CR1	P17927	p.Gly1796Glu	rs267598342	missense variant	-	NC_000001.11:g.207616650G>A	-
CR1	P17927	p.Gly1796Glu	rs267598342	missense variant	-	NC_000001.11:g.207616650G>A	NCI-TCGA,NCI-TCGA Cosmic
CR1	P17927	p.Lys1797Glu	rs1216100541	missense variant	-	NC_000001.11:g.207616652A>G	gnomAD
CR1	P17927	p.Glu1798Gly	rs1488377812	missense variant	-	NC_000001.11:g.207616656A>G	gnomAD
CR1	P17927	p.Glu1798Ter	rs753153189	stop gained	-	NC_000001.11:g.207616655G>T	ExAC,gnomAD
CR1	P17927	p.Glu1798Asp	rs1207667858	missense variant	-	NC_000001.11:g.207616657A>C	gnomAD
CR1	P17927	p.Ile1799Val	COSM70297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616658A>G	NCI-TCGA Cosmic
CR1	P17927	p.Ile1799Lys	rs763368712	missense variant	-	NC_000001.11:g.207616659T>A	ExAC,gnomAD
CR1	P17927	p.Ile1799Met	rs1396738758	missense variant	-	NC_000001.11:g.207616660A>G	gnomAD
CR1	P17927	p.Tyr1801His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207616664T>C	NCI-TCGA
CR1	P17927	p.Ala1802Val	rs1409139939	missense variant	-	NC_000001.11:g.207616668C>T	gnomAD
CR1	P17927	p.Ala1802Pro	rs56270008	missense variant	-	NC_000001.11:g.207616667G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1802Thr	rs56270008	missense variant	-	NC_000001.11:g.207616667G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1804Asn	rs113247278	missense variant	-	NC_000001.11:g.207616673G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1804Asn	rs113247278	missense variant	-	NC_000001.11:g.207616673G>A	NCI-TCGA
CR1	P17927	p.Asp1808Asn	rs749107552	missense variant	-	NC_000001.11:g.207616685G>A	ExAC,gnomAD
CR1	P17927	p.Arg1809Gly	rs545861624	missense variant	-	NC_000001.11:g.207616688A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1809Lys	rs777865155	missense variant	-	NC_000001.11:g.207616689G>A	ExAC,gnomAD
CR1	P17927	p.Arg1809Lys	rs777865155	missense variant	-	NC_000001.11:g.207616689G>A	NCI-TCGA
CR1	P17927	p.Gly1810Ala	rs747326386	missense variant	-	NC_000001.11:g.207616692G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1811Ile	COSM6123947	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616696G>A	NCI-TCGA Cosmic
CR1	P17927	p.Thr1812Ile	rs529566156	missense variant	-	NC_000001.11:g.207616698C>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Thr1812Ser	rs771046779	missense variant	-	NC_000001.11:g.207616697A>T	ExAC,gnomAD
CR1	P17927	p.Thr1812Asn	rs529566156	missense variant	-	NC_000001.11:g.207616698C>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Phe1813Ser	rs1235639319	missense variant	-	NC_000001.11:g.207616701T>C	gnomAD
CR1	P17927	p.Asn1814Thr	rs745913870	missense variant	-	NC_000001.11:g.207616704A>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1814Ser	rs745913870	missense variant	-	NC_000001.11:g.207616704A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1816Phe	rs1321472936	missense variant	-	NC_000001.11:g.207616709A>T	TOPMed,gnomAD
CR1	P17927	p.Ile1816Val	rs1321472936	missense variant	-	NC_000001.11:g.207616709A>G	TOPMed,gnomAD
CR1	P17927	p.Ile1816Thr	rs770457031	missense variant	-	NC_000001.11:g.207616710T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1816Val	rs1321472936	missense variant	-	NC_000001.11:g.207616709A>G	NCI-TCGA
CR1	P17927	p.Gly1817Ala	rs1339584812	missense variant	-	NC_000001.11:g.207616713G>C	TOPMed,gnomAD
CR1	P17927	p.Gly1817Arg	rs549640201	missense variant	-	NC_000001.11:g.207616712G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1818Ter	rs763422151	stop gained	-	NC_000001.11:g.207616715G>T	ExAC,gnomAD
CR1	P17927	p.Glu1818Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207616715G>C	NCI-TCGA
CR1	P17927	p.Ser1819Ile	rs1434418184	missense variant	-	NC_000001.11:g.207616719G>T	TOPMed
CR1	P17927	p.Ser1820Thr	rs764452837	missense variant	-	NC_000001.11:g.207616721T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1821Thr	rs774574628	missense variant	-	NC_000001.11:g.207616725T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822His	rs767050487	missense variant	-	NC_000001.11:g.207616728G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822Leu	rs767050487	missense variant	-	NC_000001.11:g.207616728G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822Cys	rs191714506	missense variant	-	NC_000001.11:g.207616727C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822Cys	rs191714506	missense variant	-	NC_000001.11:g.207616727C>T	NCI-TCGA
CR1	P17927	p.Cys1823Arg	rs749973253	missense variant	-	NC_000001.11:g.207616730T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1823Tyr	rs755578730	missense variant	-	NC_000001.11:g.207616731G>A	ExAC,gnomAD
CR1	P17927	p.Ser1825Asn	rs139596791	missense variant	-	NC_000001.11:g.207616737G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1825Ile	rs139596791	missense variant	-	NC_000001.11:g.207616737G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1826Asn	rs1168233897	missense variant	-	NC_000001.11:g.207616739G>A	NCI-TCGA
CR1	P17927	p.Asp1826Glu	rs1368752419	missense variant	-	NC_000001.11:g.207616741C>A	TOPMed,gnomAD
CR1	P17927	p.Asp1826Asn	rs1168233897	missense variant	-	NC_000001.11:g.207616739G>A	gnomAD
CR1	P17927	p.Pro1827His	rs3811381	missense variant	-	NC_000001.11:g.207616743C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1827Arg	rs3811381	missense variant	-	NC_000001.11:g.207616743C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1827Ser	rs754871656	missense variant	-	NC_000001.11:g.207616742C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1828His	rs1379169872	missense variant	-	NC_000001.11:g.207616747A>T	TOPMed,gnomAD
CR1	P17927	p.Gly1831Glu	COSM268217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616755G>A	NCI-TCGA Cosmic
CR1	P17927	p.Trp1833Ter	COSM3482749	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.207616761G>A	NCI-TCGA Cosmic
CR1	P17927	p.Ser1835Ile	COSM6123945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616767G>T	NCI-TCGA Cosmic
CR1	P17927	p.Ala1837Ser	rs367714079	missense variant	-	NC_000001.11:g.207616772G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1838Ser	rs749876194	missense variant	-	NC_000001.11:g.207616775C>T	ExAC,gnomAD
CR1	P17927	p.Arg1839Leu	COSM463863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207616779G>T	NCI-TCGA Cosmic
CR1	P17927	p.Arg1839Cys	rs769027388	missense variant	-	NC_000001.11:g.207616778C>T	ExAC,gnomAD
CR1	P17927	p.Arg1839His	rs571422599	missense variant	-	NC_000001.11:g.207616779G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1839Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207616778C>G	NCI-TCGA
CR1	P17927	p.Glu1841Ala	rs1188219151	missense variant	-	NC_000001.11:g.207616785A>C	gnomAD
CR1	P17927	p.Ser1843Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207616791C>G	NCI-TCGA
CR1	P17927	p.Ala1847Pro	rs1400988835	missense variant	-	NC_000001.11:g.207616802G>C	TOPMed
CR1	P17927	p.His1850Asp	VAR_013826	Missense	-	-	UniProt
CR1	P17927	p.Pro1851Leu	rs372388379	missense variant	-	NC_000001.11:g.207618083C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1852Arg	rs779246269	missense variant	-	NC_000001.11:g.207618086C>G	ExAC,gnomAD
CR1	P17927	p.Lys1853Arg	rs41274770	missense variant	-	NC_000001.11:g.207618089A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1854Met	rs772261193	missense variant	-	NC_000001.11:g.207618093C>G	NCI-TCGA,NCI-TCGA Cosmic
CR1	P17927	p.Ile1854Met	rs772261193	missense variant	-	NC_000001.11:g.207618093C>G	ExAC,gnomAD
CR1	P17927	p.Gly1857Arg	COSM3482751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207618100G>C	NCI-TCGA Cosmic
CR1	P17927	p.Ile1860Val	rs760382005	missense variant	-	NC_000001.11:g.207618109A>G	ExAC,gnomAD
CR1	P17927	p.Gly1861Arg	rs989464561	missense variant	-	NC_000001.11:g.207618112G>A	TOPMed
CR1	P17927	p.Gly1861Glu	rs770551867	missense variant	-	NC_000001.11:g.207618113G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1862Arg	rs776158638	missense variant	-	NC_000001.11:g.207618115G>A	NCI-TCGA,NCI-TCGA Cosmic
CR1	P17927	p.Gly1862Arg	rs776158638	missense variant	-	NC_000001.11:g.207618115G>A	ExAC,gnomAD
CR1	P17927	p.Gly1862Glu	rs1161365397	missense variant	-	NC_000001.11:g.207618116G>A	TOPMed
CR1	P17927	p.Gly1862Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207618115G>T	NCI-TCGA
CR1	P17927	p.His1863Arg	rs558883935	missense variant	-	NC_000001.11:g.207618119A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1863Leu	rs558883935	missense variant	-	NC_000001.11:g.207618119A>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1864Ile	rs752517997	missense variant	-	NC_000001.11:g.207618121G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1864Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207618122T>C	NCI-TCGA
CR1	P17927	p.Ser1865Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207618125C>T	NCI-TCGA
CR1	P17927	p.Leu1866Ile	COSM4933211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207618127C>A	NCI-TCGA Cosmic
CR1	P17927	p.Leu1866Pro	rs1364850488	missense variant	-	NC_000001.11:g.207618128T>C	gnomAD
CR1	P17927	p.Tyr1867His	rs1209011751	missense variant	-	NC_000001.11:g.207618130T>C	TOPMed
CR1	P17927	p.Pro1869Thr	rs1307614547	missense variant	-	NC_000001.11:g.207618136C>A	TOPMed,gnomAD
CR1	P17927	p.Ile1873Thr	rs1287070602	missense variant	-	NC_000001.11:g.207618149T>C	TOPMed
CR1	P17927	p.Ile1873Val	rs764047591	missense variant	-	NC_000001.11:g.207618148A>G	ExAC,gnomAD
CR1	P17927	p.Ser1874Thr	rs751385312	missense variant	-	NC_000001.11:g.207618152G>C	ExAC,gnomAD
CR1	P17927	p.Ile1876Ser	rs1428355347	missense variant	-	NC_000001.11:g.207618158T>G	gnomAD
CR1	P17927	p.Ile1876Val	rs200990657	missense variant	-	NC_000001.11:g.207618157A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1880Ser	rs753979628	missense variant	-	NC_000001.11:g.207618169G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr1881Phe	rs754960603	missense variant	-	NC_000001.11:g.207618173A>T	ExAC,gnomAD
CR1	P17927	p.Tyr1881Cys	rs754960603	missense variant	-	NC_000001.11:g.207618173A>G	ExAC,gnomAD
CR1	P17927	p.Leu1882Pro	rs1298564813	missense variant	-	NC_000001.11:g.207618176T>C	TOPMed
CR1	P17927	p.Leu1882Val	rs374661608	missense variant	-	NC_000001.11:g.207618175C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1884Leu	rs1369074955	missense variant	-	NC_000001.11:g.207618181G>T	TOPMed
CR1	P17927	p.Gly1885Arg	COSM678847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207618184G>A	NCI-TCGA Cosmic
CR1	P17927	p.Gly1885Val	rs1325557606	missense variant	-	NC_000001.11:g.207618185G>T	TOPMed
CR1	P17927	p.Gly1887Ser	rs61730889	missense variant	-	NC_000001.11:g.207618190G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1887Asp	rs778163932	missense variant	-	NC_000001.11:g.207618191G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1890Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207618201C>A	NCI-TCGA
CR1	P17927	p.Cys1891Tyr	rs1322460871	missense variant	-	NC_000001.11:g.207618203G>A	TOPMed,gnomAD
CR1	P17927	p.Cys1891Arg	rs747344171	missense variant	-	NC_000001.11:g.207618202T>C	ExAC,gnomAD
CR1	P17927	p.Cys1891Ser	rs1322460871	missense variant	-	NC_000001.11:g.207618203G>C	TOPMed,gnomAD
CR1	P17927	p.Thr1892Ala	rs1391836941	missense variant	-	NC_000001.11:g.207618205A>G	TOPMed
CR1	P17927	p.Asp1893Glu	rs770602678	missense variant	-	NC_000001.11:g.207618210C>A	ExAC,gnomAD
CR1	P17927	p.Gln1894Ter	rs1443930363	stop gained	-	NC_000001.11:g.207618211C>T	TOPMed,gnomAD
CR1	P17927	p.Gln1894Glu	rs1443930363	missense variant	-	NC_000001.11:g.207618211C>G	TOPMed,gnomAD
CR1	P17927	p.Gln1894Arg	rs1298197379	missense variant	-	NC_000001.11:g.207618212A>G	gnomAD
CR1	P17927	p.Gly1895Val	rs776218887	missense variant	-	NC_000001.11:g.207618215G>T	ExAC,gnomAD
CR1	P17927	p.Gly1895Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207618214G>A	NCI-TCGA
CR1	P17927	p.Trp1897Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207618222G>T	NCI-TCGA
CR1	P17927	p.Ser1898Asn	rs759100881	missense variant	-	NC_000001.11:g.207618224G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1898Ile	rs759100881	missense variant	-	NC_000001.11:g.207618224G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1899Ter	rs769117496	stop gained	-	NC_000001.11:g.207618226C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1899Pro	rs372676460	missense variant	-	NC_000001.11:g.207618227A>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1899His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207618228A>C	NCI-TCGA
CR1	P17927	p.Lys1905Glu	rs751436405	missense variant	-	NC_000001.11:g.207618244A>G	ExAC,gnomAD
CR1	P17927	p.Val1907Glu	rs1328324745	missense variant	-	NC_000001.11:g.207619883T>A	TOPMed
CR1	P17927	p.Cys1909Tyr	rs1159121561	missense variant	-	NC_000001.11:g.207619889G>A	gnomAD
CR1	P17927	p.Pro1912Ser	rs887718746	missense variant	-	NC_000001.11:g.207619897C>T	NCI-TCGA
CR1	P17927	p.Pro1912Ser	rs887718746	missense variant	-	NC_000001.11:g.207619897C>T	TOPMed
CR1	P17927	p.Asn1916Lys	rs1187493168	missense variant	-	NC_000001.11:g.207619911T>G	gnomAD
CR1	P17927	p.Ile1918Leu	rs1236049985	missense variant	-	NC_000001.11:g.207619915A>C	gnomAD
CR1	P17927	p.Ser1919Leu	rs376743575	missense variant	-	NC_000001.11:g.207619919C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1920Arg	rs768741650	missense variant	-	NC_000001.11:g.207619922A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1921Lys	COSM425183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207619924G>A	NCI-TCGA Cosmic
CR1	P17927	p.Glu1921Gly	rs775279350	missense variant	-	NC_000001.11:g.207619925A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1924Ile	rs1402308192	missense variant	-	NC_000001.11:g.207619935G>A	gnomAD
CR1	P17927	p.Lys1926Thr	rs1413788611	missense variant	-	NC_000001.11:g.207619940A>C	gnomAD
CR1	P17927	p.Tyr1930Cys	rs1346710526	missense variant	-	NC_000001.11:g.207619952A>G	gnomAD
CR1	P17927	p.Gly1931Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207619954G>A	NCI-TCGA
CR1	P17927	p.Gly1931Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207619955G>C	NCI-TCGA
CR1	P17927	p.Asp1932His	rs759729002	missense variant	-	NC_000001.11:g.207619957G>C	ExAC,gnomAD
CR1	P17927	p.Tyr1933His	rs764408841	missense variant	-	NC_000001.11:g.207619960T>C	ExAC,gnomAD
CR1	P17927	p.Asp1940Asn	rs1030089897	missense variant	-	NC_000001.11:g.207619981G>A	TOPMed
CR1	P17927	p.Gly1941Arg	rs1305661090	missense variant	-	NC_000001.11:g.207619984G>C	gnomAD
CR1	P17927	p.Thr1943Ser	rs1200358684	missense variant	-	NC_000001.11:g.207619991C>G	gnomAD
CR1	P17927	p.Thr1943Ile	rs1200358684	missense variant	-	NC_000001.11:g.207619991C>T	gnomAD
CR1	P17927	p.Glu1945Gly	rs1277185390	missense variant	-	NC_000001.11:g.207619997A>G	gnomAD
CR1	P17927	p.Trp1949Ter	rs867358083	stop gained	-	NC_000001.11:g.207620010G>A	TOPMed,gnomAD
CR1	P17927	p.Trp1949Cys	rs867358083	missense variant	-	NC_000001.11:g.207620010G>C	TOPMed,gnomAD
CR1	P17927	p.Trp1949Ter	rs867358083	stop gained	-	NC_000001.11:g.207620010G>A	NCI-TCGA Cosmic
CR1	P17927	p.Ser1950Gly	rs751999210	missense variant	-	NC_000001.11:g.207620011A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1952Gly	rs757755662	missense variant	-	NC_000001.11:g.207620017T>G	ExAC,gnomAD
CR1	P17927	p.Ala1954Glu	rs781466248	missense variant	-	NC_000001.11:g.207620024C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1954Val	rs781466248	missense variant	-	NC_000001.11:g.207620024C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1954Val	rs781466248	missense variant	-	NC_000001.11:g.207620024C>T	NCI-TCGA,NCI-TCGA Cosmic
CR1	P17927	p.Arg1957Lys	COSM3482755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207620033G>A	NCI-TCGA Cosmic
CR1	P17927	p.Trp1958Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207620036G>A	NCI-TCGA
CR1	P17927	p.Asp1959Tyr	rs779712942	missense variant	-	NC_000001.11:g.207620038G>T	ExAC,gnomAD
CR1	P17927	p.Pro1960Arg	rs748825725	missense variant	-	NC_000001.11:g.207620042C>G	ExAC,gnomAD
CR1	P17927	p.Pro1960Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207620041C>A	NCI-TCGA
CR1	P17927	p.Pro1961Arg	COSM425185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207620045C>G	NCI-TCGA Cosmic
CR1	P17927	p.Pro1961Ser	rs1350588945	missense variant	-	NC_000001.11:g.207620044C>T	TOPMed,gnomAD
CR1	P17927	p.Pro1961His	rs1457708351	missense variant	-	NC_000001.11:g.207620045C>A	gnomAD
CR1	P17927	p.Pro1961Leu	rs1457708351	missense variant	-	NC_000001.11:g.207620045C>T	gnomAD
CR1	P17927	p.Leu1962Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207620047C>G	NCI-TCGA
CR1	P17927	p.Ala1963Thr	rs1386214379	missense variant	-	NC_000001.11:g.207620050G>A	gnomAD
CR1	P17927	p.del1963LysValLeuTerAspArgLysLeuProThrSerTrpSerArgTer	rs1319579253	stop gained	-	NC_000001.11:g.207620049_207620050insAAGGTACTGTAAGATAGAAAACTACCCACATCATGGAGCAGATGA	gnomAD
CR1	P17927	p.Ala1963LeuLeuSerLeuTrpGluPheTrpAsnArgTrp	NCI-TCGA novel	insertion	-	NC_000001.11:g.207620052_207620053insTTACTCTCACTATGGGAGTTTTGGAATAGGTGG	NCI-TCGA
CR1	P17927	p.Thr1966Asn	rs1325827177	missense variant	-	NC_000001.11:g.207620060C>A	TOPMed,gnomAD
CR1	P17927	p.Ser1967Phe	rs767794791	missense variant	-	NC_000001.11:g.207620063C>T	TOPMed
CR1	P17927	p.Ser1967Pro	rs1232641532	missense variant	-	NC_000001.11:g.207620062T>C	TOPMed
CR1	P17927	p.Ser1967Cys	rs767794791	missense variant	-	NC_000001.11:g.207620063C>G	TOPMed
CR1	P17927	p.Arg1968Cys	rs748157061	missense variant	-	NC_000001.11:g.207620065C>T	ExAC,gnomAD
CR1	P17927	p.Arg1968Ser	rs748157061	missense variant	-	NC_000001.11:g.207620065C>A	ExAC,gnomAD
CR1	P17927	p.Arg1968Cys	rs748157061	missense variant	-	NC_000001.11:g.207620065C>T	NCI-TCGA,NCI-TCGA Cosmic
CR1	P17927	p.Thr1969Ala	rs2296160	missense variant	-	NC_000001.11:g.207621975A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1970Arg	rs1181338817	missense variant	-	NC_000001.11:g.207621979A>G	gnomAD
CR1	P17927	p.Asp1971Asn	rs376203607	missense variant	-	NC_000001.11:g.207621981G>A	ExAC,gnomAD
CR1	P17927	p.Asp1971His	rs376203607	missense variant	-	NC_000001.11:g.207621981G>C	ExAC,gnomAD
CR1	P17927	p.Asp1971Glu	rs577540907	missense variant	-	NC_000001.11:g.207621983T>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Asp1971Val	rs368389600	missense variant	-	NC_000001.11:g.207621982A>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1972Thr	rs1367687790	missense variant	-	NC_000001.11:g.207621984G>A	gnomAD
CR1	P17927	p.Leu1973Pro	rs1372449830	missense variant	-	NC_000001.11:g.207621988T>C	gnomAD
CR1	P17927	p.Leu1973Val	rs941011635	missense variant	-	NC_000001.11:g.207621987C>G	TOPMed,gnomAD
CR1	P17927	p.Leu1973Phe	rs941011635	missense variant	-	NC_000001.11:g.207621987C>T	TOPMed,gnomAD
CR1	P17927	p.Val1975Ala	rs1307946458	missense variant	-	NC_000001.11:g.207621994T>C	TOPMed,gnomAD
CR1	P17927	p.Val1975Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207621993G>A	NCI-TCGA
CR1	P17927	p.Gly1976Asp	rs770758740	missense variant	-	NC_000001.11:g.207622993G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1978Phe	rs1210686232	missense variant	-	NC_000001.11:g.207623000A>T	TOPMed,gnomAD
CR1	P17927	p.Leu1978Ser	rs781012531	missense variant	-	NC_000001.11:g.207622999T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1979Phe	rs1055003237	missense variant	-	NC_000001.11:g.207623002C>T	TOPMed
CR1	P17927	p.Ser1979Pro	rs936179811	missense variant	-	NC_000001.11:g.207623001T>C	TOPMed
CR1	P17927	p.Gly1980Val	rs916014313	missense variant	-	NC_000001.11:g.207623005G>T	TOPMed,gnomAD
CR1	P17927	p.Thr1981Ala	rs745630409	missense variant	-	NC_000001.11:g.207623007A>G	NCI-TCGA,NCI-TCGA Cosmic
CR1	P17927	p.Thr1981Met	rs768897573	missense variant	-	NC_000001.11:g.207623008C>T	ExAC,gnomAD
CR1	P17927	p.Thr1981Ala	rs745630409	missense variant	-	NC_000001.11:g.207623007A>G	ExAC,gnomAD
CR1	P17927	p.Thr1981Met	rs768897573	missense variant	-	NC_000001.11:g.207623008C>T	NCI-TCGA,NCI-TCGA Cosmic
CR1	P17927	p.Phe1983Ile	rs948794732	missense variant	-	NC_000001.11:g.207623013T>A	TOPMed,gnomAD
CR1	P17927	p.Phe1983Leu	rs948794732	missense variant	-	NC_000001.11:g.207623013T>C	TOPMed,gnomAD
CR1	P17927	p.Phe1983Leu	rs1311566124	missense variant	-	NC_000001.11:g.207623015C>A	TOPMed
CR1	P17927	p.Phe1983Ser	rs1188201350	missense variant	-	NC_000001.11:g.207623014T>C	gnomAD
CR1	P17927	p.Phe1984Leu	rs1045757587	missense variant	-	NC_000001.11:g.207623016T>C	TOPMed,gnomAD
CR1	P17927	p.Ile1985Ser	rs761809357	missense variant	-	NC_000001.11:g.207623020T>G	ExAC,gnomAD
CR1	P17927	p.Ile1985Thr	rs761809357	missense variant	-	NC_000001.11:g.207623020T>C	ExAC,gnomAD
CR1	P17927	p.Leu1987Ile	rs772120438	missense variant	-	NC_000001.11:g.207623025C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1987Pro	rs773158798	missense variant	-	NC_000001.11:g.207623026T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1989Thr	rs374944231	missense variant	-	NC_000001.11:g.207623032T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1992Tyr	rs766965331	missense variant	-	NC_000001.11:g.207623041C>A	NCI-TCGA,NCI-TCGA Cosmic
CR1	P17927	p.Ser1992Tyr	rs766965331	missense variant	-	NC_000001.11:g.207623041C>A	ExAC,gnomAD
CR1	P17927	p.Leu1996Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207623052C>A	NCI-TCGA
CR1	P17927	p.Lys1997Glu	rs754289646	missense variant	-	NC_000001.11:g.207623055A>G	ExAC,gnomAD
CR1	P17927	p.Arg1999Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207623062G>T	NCI-TCGA
CR1	P17927	p.Gly2001Ser	rs1219362352	missense variant	-	NC_000001.11:g.207623067G>A	gnomAD
CR1	P17927	p.Asn2002Asp	rs771591723	missense variant	-	NC_000001.11:g.207630518A>G	ExAC,gnomAD
CR1	P17927	p.Asn2002Ser	rs777224485	missense variant	-	NC_000001.11:g.207630519A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn2002Ile	rs777224485	missense variant	-	NC_000001.11:g.207630519A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn2003Lys	rs759984264	missense variant	-	NC_000001.11:g.207630523T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala2004Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207630524G>A	NCI-TCGA
CR1	P17927	p.His2005Arg	rs1214037809	missense variant	-	NC_000001.11:g.207630528A>G	TOPMed
CR1	P17927	p.His2005Tyr	rs765764363	missense variant	-	NC_000001.11:g.207630527C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.His2005Asn	rs765764363	missense variant	-	NC_000001.11:g.207630527C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu2006Gly	rs775705835	missense variant	-	NC_000001.11:g.207630531A>G	ExAC,gnomAD
CR1	P17927	p.Asn2007Ser	rs1363146419	missense variant	-	NC_000001.11:g.207630534A>G	gnomAD
CR1	P17927	p.Pro2008Ser	rs1456413643	missense variant	-	NC_000001.11:g.207630536C>T	TOPMed,gnomAD
CR1	P17927	p.Val2011Gly	rs372485451	missense variant	-	NC_000001.11:g.207630546T>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His2014Arg	rs1407939215	missense variant	-	NC_000001.11:g.207630555A>G	gnomAD
CR1	P17927	p.His2016Tyr	rs756707673	missense variant	-	NC_000001.11:g.207630560C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser2017Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207630564C>A	NCI-TCGA
CR1	P17927	p.Gln2018Arg	rs1379657733	missense variant	-	NC_000001.11:g.207630567A>G	gnomAD
CR1	P17927	p.Gln2018Glu	COSM678845	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207630566C>G	NCI-TCGA Cosmic
CR1	P17927	p.Gln2018Pro	rs1379657733	missense variant	-	NC_000001.11:g.207630567A>C	gnomAD
CR1	P17927	p.Gly2019Glu	COSM1928576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207630570G>A	NCI-TCGA Cosmic
CR1	P17927	p.Gly2019Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207630570G>C	NCI-TCGA
CR1	P17927	p.Gly2020Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207630573G>A	NCI-TCGA
CR1	P17927	p.Ser2022Ile	rs539578401	missense variant	-	NC_000001.11:g.207630579G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Val2023Leu	rs199592524	missense variant	-	NC_000001.11:g.207630581G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val2023Ile	rs199592524	missense variant	-	NC_000001.11:g.207630581G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro2025Leu	rs758680091	missense variant	-	NC_000001.11:g.207630588C>T	NCI-TCGA,NCI-TCGA Cosmic
CR1	P17927	p.Pro2025Ser	rs749007160	missense variant	-	NC_000001.11:g.207630587C>T	ExAC,gnomAD
CR1	P17927	p.Pro2025His	rs758680091	missense variant	-	NC_000001.11:g.207630588C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro2025Leu	rs758680091	missense variant	-	NC_000001.11:g.207630588C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg2026Ter	rs777810077	stop gained	-	NC_000001.11:g.207630590C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg2026Gln	rs115510609	missense variant	-	NC_000001.11:g.207630591G>A	NCI-TCGA
CR1	P17927	p.Arg2026Gln	rs115510609	missense variant	-	NC_000001.11:g.207630591G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr2027Ile	rs771072345	missense variant	-	NC_000001.11:g.207630594C>T	ExAC,gnomAD
CR1	P17927	p.Gln2029Arg	rs776850333	missense variant	-	NC_000001.11:g.207630600A>G	ExAC,gnomAD
CR1	P17927	p.Thr2030Ala	rs202101633	missense variant	-	NC_000001.11:g.207630602A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu2033Asp	rs189822933	missense variant	-	NC_000001.11:g.207630613A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser2035Gly	rs1462538290	missense variant	-	NC_000001.11:g.207630617A>G	NCI-TCGA
CR1	P17927	p.Ser2035Gly	rs1462538290	missense variant	-	NC_000001.11:g.207630617A>G	gnomAD
CR1	P17927	p.Arg2036Ser	rs1325918800	missense variant	-	NC_000001.11:g.207639397G>T	gnomAD
CR1	P17927	p.Val2037Asp	rs1331156785	missense variant	-	NC_000001.11:g.207639399T>A	TOPMed
CR1	P17927	p.Val2037Phe	rs1225422125	missense variant	-	NC_000001.11:g.207639398G>T	gnomAD
CR1	P17927	p.Leu2038Phe	rs1273810900	missense variant	-	NC_000001.11:g.207639401C>T	TOPMed,gnomAD
CR1	P17927	p.Pro2039Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207639405C>T	NCI-TCGA
CR1	P17927	p.Pro2039Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207639404C>A	NCI-TCGA
CR1	P17927	p.Pro2039Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207639404C>T	NCI-TCGA
CR1	P17927	p.Gly2Val	rs1179458153	missense variant	-	NC_000001.11:g.207496272G>T	gnomAD
CR1	P17927	p.Ala3Ser	rs1438089128	missense variant	-	NC_000001.11:g.207496274G>T	gnomAD
CR1	P17927	p.Ala3Val	rs1422312923	missense variant	-	NC_000001.11:g.207496275C>T	TOPMed
CR1	P17927	p.Ser5Ala	rs1270698778	missense variant	-	NC_000001.11:g.207496280T>G	TOPMed,gnomAD
CR1	P17927	p.Arg7Gly	rs1038479607	missense variant	-	NC_000001.11:g.207496286A>G	TOPMed
CR1	P17927	p.Pro9Arg	rs1251291603	missense variant	-	NC_000001.11:g.207496293C>G	TOPMed
CR1	P17927	p.Pro11Thr	rs781322624	missense variant	-	NC_000001.11:g.207496298C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro11Ala	rs781322624	missense variant	-	NC_000001.11:g.207496298C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val12Ile	rs372551774	missense variant	-	NC_000001.11:g.207496301G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly13Arg	rs1276701863	missense variant	-	NC_000001.11:g.207496304G>C	TOPMed
CR1	P17927	p.Pro14Gln	rs769828093	missense variant	-	NC_000001.11:g.207496308C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro15Leu	rs775590306	missense variant	-	NC_000001.11:g.207496311C>T	ExAC,gnomAD
CR1	P17927	p.Pro15Ser	rs1402904259	missense variant	-	NC_000001.11:g.207496310C>T	gnomAD
CR1	P17927	p.Ala16Thr	rs369804986	missense variant	-	NC_000001.11:g.207496313G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala16Glu	rs774774612	missense variant	-	NC_000001.11:g.207496314C>A	ExAC,gnomAD
CR1	P17927	p.Ala16Gly	rs774774612	missense variant	-	NC_000001.11:g.207496314C>G	ExAC,gnomAD
CR1	P17927	p.Pro17Ser	rs772948093	missense variant	-	NC_000001.11:g.207496316C>T	ExAC,gnomAD
CR1	P17927	p.Pro17Arg	rs566717082	missense variant	-	NC_000001.11:g.207496317C>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly18Ser	rs1318306169	missense variant	-	NC_000001.11:g.207496319G>A	TOPMed,gnomAD
CR1	P17927	p.Gly18Val	rs1197723622	missense variant	-	NC_000001.11:g.207496320G>T	TOPMed,gnomAD
CR1	P17927	p.Leu19His	rs1255951917	missense variant	-	NC_000001.11:g.207496323T>A	gnomAD
CR1	P17927	p.Leu19Phe	rs575513177	missense variant	-	NC_000001.11:g.207496322C>T	TOPMed
CR1	P17927	p.Pro20Leu	rs199732885	missense variant	-	NC_000001.11:g.207496326C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe21Leu	rs1423387453	missense variant	-	NC_000001.11:g.207496330C>G	gnomAD
CR1	P17927	p.Cys22Arg	rs1186041714	missense variant	-	NC_000001.11:g.207496331T>C	gnomAD
CR1	P17927	p.Leu28Pro	rs752683886	missense variant	-	NC_000001.11:g.207496350T>C	ExAC,gnomAD
CR1	P17927	p.Ala29Thr	rs555401223	missense variant	-	NC_000001.11:g.207496352G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Val30Ala	rs777578334	missense variant	-	NC_000001.11:g.207496356T>C	ExAC,gnomAD
CR1	P17927	p.Val32Gly	rs1433800468	missense variant	-	NC_000001.11:g.207496362T>G	TOPMed
CR1	P17927	p.Val32Met	rs756378518	missense variant	-	NC_000001.11:g.207496361G>A	ExAC,gnomAD
CR1	P17927	p.Leu34Val	rs370940682	missense variant	-	NC_000001.11:g.207496367C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val38Met	rs1205577751	missense variant	-	NC_000001.11:g.207496379G>A	TOPMed
CR1	P17927	p.Val38Ala	rs1256878310	missense variant	-	NC_000001.11:g.207496380T>C	gnomAD
CR1	P17927	p.Gly41Arg	rs1198741575	missense variant	-	NC_000001.11:g.207496388G>C	gnomAD
CR1	P17927	p.Cys43Tyr	rs200480103	missense variant	-	NC_000001.11:g.207505910G>A	ExAC,gnomAD
CR1	P17927	p.Asn44Ser	rs1204789544	missense variant	-	NC_000001.11:g.207505913A>G	TOPMed
CR1	P17927	p.Asn44Asp	rs1245523386	missense variant	-	NC_000001.11:g.207505912A>G	TOPMed
CR1	P17927	p.Ala45Val	rs1464525336	missense variant	-	NC_000001.11:g.207505916C>T	TOPMed
CR1	P17927	p.Glu47Lys	rs534091932	missense variant	-	NC_000001.11:g.207505921G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Trp48Arg	rs769544255	missense variant	-	NC_000001.11:g.207505924T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu49Phe	rs1206948700	missense variant	-	NC_000001.11:g.207505927C>T	TOPMed
CR1	P17927	p.Pro50Ser	rs774858867	missense variant	-	NC_000001.11:g.207505930C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala52Val	rs748734391	missense variant	-	NC_000001.11:g.207505937C>T	ExAC,gnomAD
CR1	P17927	p.Arg53Trp	rs768171570	missense variant	-	NC_000001.11:g.207505939A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg53Gly	rs768171570	missense variant	-	NC_000001.11:g.207505939A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu57Ile	rs1446364125	missense variant	-	NC_000001.11:g.207505951C>A	TOPMed,gnomAD
CR1	P17927	p.Thr58Asn	rs767183179	missense variant	-	NC_000001.11:g.207505955C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr58Ala	rs1277802342	missense variant	-	NC_000001.11:g.207505954A>G	gnomAD
CR1	P17927	p.Glu60Asp	rs4844600	missense variant	-	NC_000001.11:g.207505962A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu60Lys	rs370964624	missense variant	-	NC_000001.11:g.207505960G>A	ESP,ExAC
CR1	P17927	p.Pro64Ser	rs368774493	missense variant	-	NC_000001.11:g.207505972C>T	ESP,ExAC,gnomAD
CR1	P17927	p.Ile65Asn	rs1318015787	missense variant	-	NC_000001.11:g.207505976T>A	TOPMed
CR1	P17927	p.Thr67Ile	rs148543091	missense variant	-	NC_000001.11:g.207505982C>T	1000Genomes,ESP,TOPMed,gnomAD
CR1	P17927	p.Tyr68His	rs764290811	missense variant	-	NC_000001.11:g.207505984T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr71His	rs757833188	missense variant	-	NC_000001.11:g.207505993T>C	ExAC,gnomAD
CR1	P17927	p.Tyr71Asp	rs757833188	missense variant	-	NC_000001.11:g.207505993T>G	ExAC,gnomAD
CR1	P17927	p.Glu72Val	rs781398817	missense variant	-	NC_000001.11:g.207505997A>T	ExAC,gnomAD
CR1	P17927	p.Cys73Phe	rs1387422169	missense variant	-	NC_000001.11:g.207506000G>T	TOPMed
CR1	P17927	p.Arg74His	rs200913967	missense variant	-	NC_000001.11:g.207506003G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg74Leu	rs200913967	missense variant	-	NC_000001.11:g.207506003G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg74Cys	rs536471861	missense variant	-	NC_000001.11:g.207506002C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly76Arg	rs1478766910	missense variant	-	NC_000001.11:g.207506008G>C	gnomAD
CR1	P17927	p.Ser78Cys	rs1171079587	missense variant	-	NC_000001.11:g.207506015C>G	gnomAD
CR1	P17927	p.Gly79Arg	rs773894177	missense variant	-	NC_000001.11:g.207506017G>A	ExAC,gnomAD
CR1	P17927	p.Arg80Ile	rs984752226	missense variant	-	NC_000001.11:g.207506021G>T	TOPMed
CR1	P17927	p.Pro81Arg	rs748011435	missense variant	-	NC_000001.11:g.207506024C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro81Leu	rs748011435	missense variant	-	NC_000001.11:g.207506024C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser83Pro	rs760447829	missense variant	-	NC_000001.11:g.207506029T>C	ExAC,gnomAD
CR1	P17927	p.Ile84Val	rs1283688718	missense variant	-	NC_000001.11:g.207506032A>G	gnomAD
CR1	P17927	p.Ile85Thr	rs766100604	missense variant	-	NC_000001.11:g.207506036T>C	ExAC,gnomAD
CR1	P17927	p.Ile85Val	rs1354038400	missense variant	-	NC_000001.11:g.207506035A>G	gnomAD
CR1	P17927	p.Asn89Lys	rs763296805	missense variant	-	NC_000001.11:g.207506049C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn89Ile	rs1317743493	missense variant	-	NC_000001.11:g.207506048A>T	TOPMed,gnomAD
CR1	P17927	p.Val91Ile	rs186041346	missense variant	-	NC_000001.11:g.207506053G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr93Asn	rs1254821847	missense variant	-	NC_000001.11:g.207506060C>A	gnomAD
CR1	P17927	p.Ala95Thr	rs1489203243	missense variant	-	NC_000001.11:g.207506065G>A	gnomAD
CR1	P17927	p.Lys96Asn	rs1422617991	missense variant	-	NC_000001.11:g.207506070G>C	gnomAD
CR1	P17927	p.Arg98Ser	rs750911871	missense variant	-	NC_000001.11:g.207506076G>T	ExAC,gnomAD
CR1	P17927	p.Cys99Gly	rs1326432997	missense variant	-	NC_000001.11:g.207506077T>G	TOPMed
CR1	P17927	p.Arg100Ser	rs1384664298	missense variant	-	NC_000001.11:g.207506082A>T	TOPMed
CR1	P17927	p.Arg100Lys	rs1322506903	missense variant	-	NC_000001.11:g.207506081G>A	TOPMed
CR1	P17927	p.Arg101Ser	rs756455451	missense variant	-	NC_000001.11:g.207506083C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg101Gly	rs756455451	missense variant	-	NC_000001.11:g.207506083C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg101Cys	rs756455451	missense variant	-	NC_000001.11:g.207506083C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys102Asn	rs746933193	missense variant	-	NC_000001.11:g.207506718A>T	ExAC,gnomAD
CR1	P17927	p.Arg105Cys	rs11587944	missense variant	-	NC_000001.11:g.207506725C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg105His	rs554133188	missense variant	-	NC_000001.11:g.207506726G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro107Leu	rs745592804	missense variant	-	NC_000001.11:g.207506732C>T	ExAC,gnomAD
CR1	P17927	p.Pro108Leu	rs769726347	missense variant	-	NC_000001.11:g.207506735C>T	ExAC,gnomAD
CR1	P17927	p.Asp109Val	rs377658670	missense variant	-	NC_000001.11:g.207506738A>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp109Gly	rs377658670	missense variant	-	NC_000001.11:g.207506738A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro110Thr	rs370425971	missense variant	-	NC_000001.11:g.207506740C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val111Ala	rs773217946	missense variant	-	NC_000001.11:g.207506744T>C	ExAC,gnomAD
CR1	P17927	p.Val115Leu	rs761154473	missense variant	-	NC_000001.11:g.207506755G>C	ExAC,gnomAD
CR1	P17927	p.Val115Gly	rs3991747	missense variant	-	NC_000001.11:g.207506756T>G	TOPMed,gnomAD
CR1	P17927	p.Val115Ala	rs3991747	missense variant	-	NC_000001.11:g.207506756T>C	TOPMed,gnomAD
CR1	P17927	p.Val117Ala	rs993321712	missense variant	-	NC_000001.11:g.207506762T>C	TOPMed
CR1	P17927	p.Ile118Thr	rs376045736	missense variant	-	NC_000001.11:g.207506765T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys119Thr	rs55715268	missense variant	-	NC_000001.11:g.207506768A>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly120Asp	rs752354880	missense variant	-	NC_000001.11:g.207506771G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly120Ala	rs752354880	missense variant	-	NC_000001.11:g.207506771G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile121Met	rs763635626	missense variant	-	NC_000001.11:g.207506775C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln122Leu	rs964384441	missense variant	-	NC_000001.11:g.207506777A>T	TOPMed,gnomAD
CR1	P17927	p.Gly124Arg	rs55962594	missense variant	-	NC_000001.11:g.207506782G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly124Arg	rs55962594	missense variant	-	NC_000001.11:g.207506782G>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser125Phe	rs781217918	missense variant	-	NC_000001.11:g.207506786C>T	ExAC,gnomAD
CR1	P17927	p.Ser125Thr	rs1284775847	missense variant	-	NC_000001.11:g.207506785T>A	gnomAD
CR1	P17927	p.Gln126Pro	rs1211525831	missense variant	-	NC_000001.11:g.207506789A>C	gnomAD
CR1	P17927	p.Ser130Pro	rs755936644	missense variant	-	NC_000001.11:g.207506800T>C	ExAC,gnomAD
CR1	P17927	p.Ser130Phe	rs779758291	missense variant	-	NC_000001.11:g.207506801C>T	ExAC,gnomAD
CR1	P17927	p.Thr132Pro	rs55906048	missense variant	-	NC_000001.11:g.207506806A>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys133Glu	rs183171969	missense variant	-	NC_000001.11:g.207506809A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly134Arg	rs767211812	missense variant	-	NC_000001.11:g.207506812G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr135Cys	rs763171525	missense variant	-	NC_000001.11:g.207511571A>G	ExAC,gnomAD
CR1	P17927	p.Tyr135His	rs571542796	missense variant	-	NC_000001.11:g.207511570T>C	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg136Ter	rs764542666	stop gained	-	NC_000001.11:g.207511573C>T	ExAC,gnomAD
CR1	P17927	p.Arg136Gln	rs774108631	missense variant	-	NC_000001.11:g.207511574G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu137Pro	rs1176392610	missense variant	-	NC_000001.11:g.207511577T>C	TOPMed,gnomAD
CR1	P17927	p.Leu137Phe	rs374701486	missense variant	-	NC_000001.11:g.207511576C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu137Ile	rs374701486	missense variant	-	NC_000001.11:g.207511576C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu137His	rs1176392610	missense variant	-	NC_000001.11:g.207511577T>A	TOPMed,gnomAD
CR1	P17927	p.Gly139Cys	rs750014956	missense variant	-	NC_000001.11:g.207511582G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser140Phe	rs760660307	missense variant	-	NC_000001.11:g.207511586C>T	ExAC,gnomAD
CR1	P17927	p.Ser141Leu	rs368197693	missense variant	-	NC_000001.11:g.207511589C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser142Tyr	rs1369522609	missense variant	-	NC_000001.11:g.207511592C>A	gnomAD
CR1	P17927	p.Ala143Val	rs1304528755	missense variant	-	NC_000001.11:g.207511595C>T	gnomAD
CR1	P17927	p.Ile146Asn	rs778796743	missense variant	-	NC_000001.11:g.207511604T>A	ExAC,gnomAD
CR1	P17927	p.Ile147Met	rs1232099294	missense variant	-	NC_000001.11:g.207511608C>G	TOPMed,gnomAD
CR1	P17927	p.Gly149Asp	rs1288254338	missense variant	-	NC_000001.11:g.207511613G>A	gnomAD
CR1	P17927	p.Val152Ile	rs1318002167	missense variant	-	NC_000001.11:g.207511621G>A	gnomAD
CR1	P17927	p.Ile153Val	rs751749798	missense variant	-	NC_000001.11:g.207511624A>G	ExAC,gnomAD
CR1	P17927	p.Asn156Ser	rs1259302874	missense variant	-	NC_000001.11:g.207511634A>G	gnomAD
CR1	P17927	p.Thr158Ala	rs1489712968	missense variant	-	NC_000001.11:g.207511639A>G	gnomAD
CR1	P17927	p.Thr158Ile	rs757524712	missense variant	-	NC_000001.11:g.207511640C>T	ExAC,gnomAD
CR1	P17927	p.Pro159Leu	rs371731619	missense variant	-	NC_000001.11:g.207511643C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro159Thr	rs1251927369	missense variant	-	NC_000001.11:g.207511642C>A	TOPMed,gnomAD
CR1	P17927	p.Ile160Val	rs769933207	missense variant	-	NC_000001.11:g.207511645A>G	ExAC,TOPMed
CR1	P17927	p.Asp162His	rs1354035846	missense variant	-	NC_000001.11:g.207511651G>C	TOPMed
CR1	P17927	p.Gly167Glu	rs772575230	missense variant	-	NC_000001.11:g.207523623G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu168Val	rs1263245201	missense variant	-	NC_000001.11:g.207523625C>G	TOPMed,gnomAD
CR1	P17927	p.Leu168Pro	rs1436871849	missense variant	-	NC_000001.11:g.207523626T>C	gnomAD
CR1	P17927	p.Pro169His	rs772945933	missense variant	-	NC_000001.11:g.207523629C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro169Ser	rs1201736464	missense variant	-	NC_000001.11:g.207523628C>T	gnomAD
CR1	P17927	p.Pro169Leu	rs772945933	missense variant	-	NC_000001.11:g.207523629C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro170Thr	rs1343627391	missense variant	-	NC_000001.11:g.207523631C>A	gnomAD
CR1	P17927	p.Thr171Ser	rs759375883	missense variant	-	NC_000001.11:g.207523635C>G	ExAC,gnomAD
CR1	P17927	p.Ile172Val	rs775410210	missense variant	-	NC_000001.11:g.207523637A>G	ExAC,gnomAD
CR1	P17927	p.Thr173Ala	rs116806486	missense variant	-	NC_000001.11:g.207523640A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr173Asn	rs373261985	missense variant	-	NC_000001.11:g.207523641C>A	ESP,ExAC,gnomAD
CR1	P17927	p.Thr173Ile	rs373261985	missense variant	-	NC_000001.11:g.207523641C>T	ESP,ExAC,gnomAD
CR1	P17927	p.Asn174Lys	rs750581759	missense variant	-	NC_000001.11:g.207523645T>A	ExAC,gnomAD
CR1	P17927	p.Asn174Asp	rs1168357896	missense variant	-	NC_000001.11:g.207523643A>G	gnomAD
CR1	P17927	p.Phe177Val	rs377171662	missense variant	-	NC_000001.11:g.207523652T>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser179Asn	rs766358157	missense variant	-	NC_000001.11:g.207523659G>A	ExAC,gnomAD
CR1	P17927	p.Thr180Asn	rs754020848	missense variant	-	NC_000001.11:g.207523662C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr180Ile	rs754020848	missense variant	-	NC_000001.11:g.207523662C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn181Ser	rs1040406865	missense variant	-	NC_000001.11:g.207523665A>G	TOPMed
CR1	P17927	p.Arg182Lys	rs1251457595	missense variant	-	NC_000001.11:g.207523668G>A	gnomAD
CR1	P17927	p.Glu183Gly	rs1271137614	missense variant	-	NC_000001.11:g.207523671A>G	gnomAD
CR1	P17927	p.Glu183Ter	rs1402175043	stop gained	-	NC_000001.11:g.207523670G>T	gnomAD
CR1	P17927	p.Asn184Tyr	rs755116652	missense variant	-	NC_000001.11:g.207523673A>T	ExAC,gnomAD
CR1	P17927	p.Asn184Lys	rs779501341	missense variant	-	NC_000001.11:g.207523675T>A	ExAC,gnomAD
CR1	P17927	p.His186Pro	rs748682663	missense variant	-	NC_000001.11:g.207523680A>C	ExAC,gnomAD
CR1	P17927	p.Tyr187Asp	rs758794007	missense variant	-	NC_000001.11:g.207523682T>G	ExAC,gnomAD
CR1	P17927	p.Tyr187Cys	rs778319139	missense variant	-	NC_000001.11:g.207523683A>G	ExAC,gnomAD
CR1	P17927	p.Val190Glu	rs1489235099	missense variant	-	NC_000001.11:g.207523692T>A	gnomAD
CR1	P17927	p.Thr192Ser	rs1193584014	missense variant	-	NC_000001.11:g.207523698C>G	TOPMed,gnomAD
CR1	P17927	p.Arg194Pro	rs575341867	missense variant	-	NC_000001.11:g.207523704G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg194Ser	rs372485667	missense variant	-	NC_000001.11:g.207523703C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg194Cys	rs372485667	missense variant	-	NC_000001.11:g.207523703C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg194His	rs575341867	missense variant	-	NC_000001.11:g.207523704G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn196Tyr	rs776000137	missense variant	-	NC_000001.11:g.207523709A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro197Leu	rs745308596	missense variant	-	NC_000001.11:g.207523713C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly200Arg	rs533647702	missense variant	-	NC_000001.11:g.207523721G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly201Glu	rs1465640883	missense variant	-	NC_000001.11:g.207523725G>A	gnomAD
CR1	P17927	p.Lys203Met	rs1242529196	missense variant	-	NC_000001.11:g.207523731A>T	TOPMed
CR1	P17927	p.Glu206Gln	rs774262384	missense variant	-	NC_000001.11:g.207523739G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val208Met	rs760805570	missense variant	-	NC_000001.11:g.207523745G>A	ExAC,gnomAD
CR1	P17927	p.Glu210Gly	rs765435100	missense variant	-	NC_000001.11:g.207523752A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu210Lys	rs755057022	missense variant	-	NC_000001.11:g.207523751G>A	ExAC,gnomAD
CR1	P17927	p.Pro211His	rs905671575	missense variant	-	NC_000001.11:g.207523755C>A	TOPMed,gnomAD
CR1	P17927	p.Ile213Val	rs753222609	missense variant	-	NC_000001.11:g.207523760A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr214His	rs759020028	missense variant	-	NC_000001.11:g.207523763T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr216Ile	rs1393369335	missense variant	-	NC_000001.11:g.207523770C>T	gnomAD
CR1	P17927	p.Thr216Ala	rs1193039629	missense variant	-	NC_000001.11:g.207523769A>G	gnomAD
CR1	P17927	p.Asn218Lys	rs747471152	missense variant	-	NC_000001.11:g.207523777T>G	ExAC,gnomAD
CR1	P17927	p.Asp220Asn	rs780838328	missense variant	-	NC_000001.11:g.207523781G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp220Glu	rs564050886	missense variant	-	NC_000001.11:g.207523783T>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val222Leu	rs1328356685	missense variant	-	NC_000001.11:g.207523787G>T	gnomAD
CR1	P17927	p.Ser226Thr	rs769263469	missense variant	-	NC_000001.11:g.207523800G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser226Arg	rs375736945	missense variant	-	NC_000001.11:g.207523801C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly227Asp	rs1451191641	missense variant	-	NC_000001.11:g.207523803G>A	TOPMed
CR1	P17927	p.Gly227Ser	rs768650170	missense variant	-	NC_000001.11:g.207523802G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala229Pro	rs771782651	missense variant	-	NC_000001.11:g.207523808G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala229Thr	rs771782651	missense variant	-	NC_000001.11:g.207523808G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln231Ter	rs1211344955	stop gained	-	NC_000001.11:g.207523814C>T	TOPMed,gnomAD
CR1	P17927	p.Gln231His	rs752881313	missense variant	-	NC_000001.11:g.207523816G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln231His	rs752881313	missense variant	-	NC_000001.11:g.207523816G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys232Phe	rs763547186	missense variant	-	NC_000001.11:g.207523818G>T	ExAC,gnomAD
CR1	P17927	p.Ile233Leu	rs1431088864	missense variant	-	NC_000001.11:g.207523820A>C	TOPMed
CR1	P17927	p.Ile234Thr	rs200373331	missense variant	-	NC_000001.11:g.207523824T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro235Leu	rs1251182131	missense variant	-	NC_000001.11:g.207523827C>T	gnomAD
CR1	P17927	p.Thr239Met	rs374551420	missense variant	-	NC_000001.11:g.207523839C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr239Ala	rs1439694054	missense variant	-	NC_000001.11:g.207523838A>G	TOPMed,gnomAD
CR1	P17927	p.Pro240Leu	rs781450002	missense variant	-	NC_000001.11:g.207523842C>T	ExAC,TOPMed
CR1	P17927	p.Pro240Ser	rs1469085098	missense variant	-	NC_000001.11:g.207523841C>T	gnomAD
CR1	P17927	p.Pro241Leu	rs750057117	missense variant	-	NC_000001.11:g.207523845C>T	ExAC,gnomAD
CR1	P17927	p.Val243Ala	rs976193268	missense variant	-	NC_000001.11:g.207523851T>C	TOPMed
CR1	P17927	p.Ile247Thr	rs755824128	missense variant	-	NC_000001.11:g.207523863T>C	ExAC,gnomAD
CR1	P17927	p.Ile247Val	rs1419095264	missense variant	-	NC_000001.11:g.207523862A>G	gnomAD
CR1	P17927	p.Leu248Phe	rs779537863	missense variant	-	NC_000001.11:g.207523867G>C	ExAC,gnomAD
CR1	P17927	p.Val249Ala	rs1274393352	missense variant	-	NC_000001.11:g.207523869T>C	gnomAD
CR1	P17927	p.Val249Leu	rs1391406413	missense variant	-	NC_000001.11:g.207523868G>C	TOPMed,gnomAD
CR1	P17927	p.Ser250Pro	rs923349850	missense variant	-	NC_000001.11:g.207523871T>C	TOPMed,gnomAD
CR1	P17927	p.Asp251Glu	rs768068877	missense variant	-	NC_000001.11:g.207523876C>A	ExAC,gnomAD
CR1	P17927	p.Asn252Lys	rs778864339	missense variant	-	NC_000001.11:g.207523879C>G	ExAC,gnomAD
CR1	P17927	p.Asn252Ser	rs1245182081	missense variant	-	NC_000001.11:g.207523878A>G	TOPMed
CR1	P17927	p.Phe256Ile	rs748064449	missense variant	-	NC_000001.11:g.207523889T>A	ExAC,gnomAD
CR1	P17927	p.Phe256Leu	rs748064449	missense variant	-	NC_000001.11:g.207523889T>C	ExAC,gnomAD
CR1	P17927	p.Asn259Thr	rs1341746303	missense variant	-	NC_000001.11:g.207523899A>C	gnomAD
CR1	P17927	p.Glu260Gly	rs934714738	missense variant	-	NC_000001.11:g.207523902A>G	TOPMed
CR1	P17927	p.Val261Ile	rs773187217	missense variant	-	NC_000001.11:g.207523904G>A	ExAC
CR1	P17927	p.Val262Leu	rs1196417997	missense variant	-	NC_000001.11:g.207523907G>T	gnomAD
CR1	P17927	p.Arg265Ser	rs759816942	missense variant	-	NC_000001.11:g.207523918G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg265Met	rs1053518736	missense variant	-	NC_000001.11:g.207523917G>T	TOPMed
CR1	P17927	p.Pro268Leu	rs1436556198	missense variant	-	NC_000001.11:g.207523926C>T	gnomAD
CR1	P17927	p.Val271Gly	rs770207666	missense variant	-	NC_000001.11:g.207523935T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met272Val	rs1274586537	missense variant	-	NC_000001.11:g.207523937A>G	TOPMed
CR1	P17927	p.Met272Thr	rs528582284	missense variant	-	NC_000001.11:g.207523938T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Met272Arg	rs528582284	missense variant	-	NC_000001.11:g.207523938T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro275Arg	rs1374370316	missense variant	-	NC_000001.11:g.207523947C>G	TOPMed,gnomAD
CR1	P17927	p.Pro275Thr	rs764103311	missense variant	-	NC_000001.11:g.207523946C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro275Leu	rs1374370316	missense variant	-	NC_000001.11:g.207523947C>T	TOPMed,gnomAD
CR1	P17927	p.Pro275Ala	rs764103311	missense variant	-	NC_000001.11:g.207523946C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg276Cys	rs762275854	missense variant	-	NC_000001.11:g.207523949C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg276His	rs767912993	missense variant	-	NC_000001.11:g.207523950G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg277His	rs377051799	missense variant	-	NC_000001.11:g.207523953G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg277Ser	rs199777103	missense variant	-	NC_000001.11:g.207523952C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg277Leu	rs377051799	missense variant	-	NC_000001.11:g.207523953G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg277Cys	rs199777103	missense variant	-	NC_000001.11:g.207523952C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val278Met	rs1426371821	missense variant	-	NC_000001.11:g.207523955G>A	TOPMed,gnomAD
CR1	P17927	p.Lys279Thr	rs1175764772	missense variant	-	NC_000001.11:g.207523959A>C	TOPMed
CR1	P17927	p.Lys279Asn	rs1313476388	missense variant	-	NC_000001.11:g.207523960G>C	gnomAD
CR1	P17927	p.Cys280Phe	rs753515222	missense variant	-	NC_000001.11:g.207523962G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala282Thr	rs754466659	missense variant	-	NC_000001.11:g.207523967G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp286Leu	rs748094202	missense variant	-	NC_000001.11:g.207523980G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp286Ter	rs896884104	stop gained	-	NC_000001.11:g.207523981G>A	TOPMed
CR1	P17927	p.Pro288Leu	rs375365893	missense variant	-	NC_000001.11:g.207523986C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu289Ala	rs1213631806	missense variant	-	NC_000001.11:g.207523989A>C	gnomAD
CR1	P17927	p.Leu290Val	rs1485631822	missense variant	-	NC_000001.11:g.207523991C>G	TOPMed,gnomAD
CR1	P17927	p.Leu290Ile	rs1485631822	missense variant	-	NC_000001.11:g.207523991C>A	TOPMed,gnomAD
CR1	P17927	p.Ser292Gly	rs746732646	missense variant	-	NC_000001.11:g.207523997A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys293Phe	rs1264321260	missense variant	-	NC_000001.11:g.207524001G>T	gnomAD
CR1	P17927	p.Arg295Lys	rs770862116	missense variant	-	NC_000001.11:g.207524007G>A	ExAC,gnomAD
CR1	P17927	p.Val296Ala	rs1304220503	missense variant	-	NC_000001.11:g.207526753T>C	gnomAD
CR1	P17927	p.Val296Leu	rs1192074518	missense variant	-	NC_000001.11:g.207524009G>T	gnomAD
CR1	P17927	p.Gln298Lys	rs962914470	missense variant	-	NC_000001.11:g.207526758C>A	TOPMed
CR1	P17927	p.Pro300Ser	rs1425702067	missense variant	-	NC_000001.11:g.207526764C>T	TOPMed
CR1	P17927	p.Asp302Asn	rs1370393511	missense variant	-	NC_000001.11:g.207526770G>A	gnomAD
CR1	P17927	p.Val303Ile	rs1389929951	missense variant	-	NC_000001.11:g.207526773G>A	TOPMed
CR1	P17927	p.Ala306Val	rs1217972447	missense variant	-	NC_000001.11:g.207526783C>T	TOPMed,gnomAD
CR1	P17927	p.Ala306Ser	rs1451844190	missense variant	-	NC_000001.11:g.207526782G>T	TOPMed
CR1	P17927	p.Glu307Ter	rs748121944	stop gained	-	NC_000001.11:g.207526785G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg308Cys	rs200399748	missense variant	-	NC_000001.11:g.207526788C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg308His	rs367704854	missense variant	-	NC_000001.11:g.207526789G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp312Asn	rs1469516392	missense variant	-	NC_000001.11:g.207526800G>A	gnomAD
CR1	P17927	p.Lys313Thr	rs1213975481	missense variant	-	NC_000001.11:g.207526804A>C	gnomAD
CR1	P17927	p.Asp314Asn	rs761207372	missense variant	-	NC_000001.11:g.207526806G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp314Tyr	rs761207372	missense variant	-	NC_000001.11:g.207526806G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn315His	rs1487254781	missense variant	-	NC_000001.11:g.207526809A>C	gnomAD
CR1	P17927	p.Asn315Lys	rs776915205	missense variant	-	NC_000001.11:g.207526811C>A	ExAC,gnomAD
CR1	P17927	p.Ser317Ter	rs759219881	stop gained	-	NC_000001.11:g.207526816C>G	ExAC,gnomAD
CR1	P17927	p.Pro318Arg	rs764728700	missense variant	-	NC_000001.11:g.207526819C>G	ExAC,gnomAD
CR1	P17927	p.Gly319Arg	rs372600922	missense variant	-	NC_000001.11:g.207526821G>A	ESP
CR1	P17927	p.Gln320Ter	rs757797558	stop gained	-	NC_000001.11:g.207526824C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr324His	rs763728342	missense variant	-	NC_000001.11:g.207526836T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser325Asn	rs1385765016	missense variant	-	NC_000001.11:g.207526840G>A	TOPMed
CR1	P17927	p.Ser325Arg	rs751520310	missense variant	-	NC_000001.11:g.207526841C>G	ExAC,gnomAD
CR1	P17927	p.Cys326Tyr	rs1434321433	missense variant	-	NC_000001.11:g.207526843G>A	TOPMed,gnomAD
CR1	P17927	p.Glu327Lys	rs1300002054	missense variant	-	NC_000001.11:g.207526845G>A	gnomAD
CR1	P17927	p.Glu327Asp	rs1391374001	missense variant	-	NC_000001.11:g.207526847G>T	gnomAD
CR1	P17927	p.Glu327Ala	rs757322596	missense variant	-	NC_000001.11:g.207526846A>C	ExAC,gnomAD
CR1	P17927	p.Gly329Ser	rs1337494493	missense variant	-	NC_000001.11:g.207526851G>A	TOPMed,gnomAD
CR1	P17927	p.Gly329Arg	rs1337494493	missense variant	-	NC_000001.11:g.207526851G>C	TOPMed,gnomAD
CR1	P17927	p.Tyr330Cys	rs745583978	missense variant	-	NC_000001.11:g.207526855A>G	ExAC,gnomAD
CR1	P17927	p.Asp331Asn	rs778957597	missense variant	-	NC_000001.11:g.207526857G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp331His	rs778957597	missense variant	-	NC_000001.11:g.207526857G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg333Gly	rs772113259	missense variant	-	NC_000001.11:g.207526863A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg333Ter	rs772113259	stop gained	-	NC_000001.11:g.207526863A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly334Val	rs777876698	missense variant	-	NC_000001.11:g.207526867G>T	ExAC,gnomAD
CR1	P17927	p.Ala336Val	rs1179969727	missense variant	-	NC_000001.11:g.207526873C>T	gnomAD
CR1	P17927	p.Met338Val	rs1290223276	missense variant	-	NC_000001.11:g.207526878A>G	gnomAD
CR1	P17927	p.Arg339Ser	rs377225165	missense variant	-	NC_000001.11:g.207526881C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg339His	rs774965150	missense variant	-	NC_000001.11:g.207526882G>A	ExAC,gnomAD
CR1	P17927	p.Arg339Cys	rs377225165	missense variant	-	NC_000001.11:g.207526881C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg339Gly	rs377225165	missense variant	-	NC_000001.11:g.207526881C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln343Lys	rs1403838676	missense variant	-	NC_000001.11:g.207526893C>A	gnomAD
CR1	P17927	p.Gly344Arg	rs1172595071	missense variant	-	NC_000001.11:g.207526896G>C	gnomAD
CR1	P17927	p.Ser347Gly	rs1355230304	missense variant	-	NC_000001.11:g.207526905A>G	TOPMed,gnomAD
CR1	P17927	p.Ala350Val	rs1482836122	missense variant	-	NC_000001.11:g.207526915C>T	TOPMed
CR1	P17927	p.Pro351Ser	rs762733708	missense variant	-	NC_000001.11:g.207526917C>T	ExAC,gnomAD
CR1	P17927	p.Thr352Arg	rs751182802	missense variant	-	NC_000001.11:g.207526921C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val355Met	rs1202790355	missense variant	-	NC_000001.11:g.207526929G>A	TOPMed
CR1	P17927	p.Asp360Tyr	rs1439402416	missense variant	-	NC_000001.11:g.207527035G>T	TOPMed
CR1	P17927	p.Met362Val	rs1250964369	missense variant	-	NC_000001.11:g.207527041A>G	TOPMed
CR1	P17927	p.Gly363Arg	rs978076149	missense variant	-	NC_000001.11:g.207527044G>C	TOPMed,gnomAD
CR1	P17927	p.Gly368Ser	rs1482222749	missense variant	-	NC_000001.11:g.207527059G>A	TOPMed
CR1	P17927	p.Arg369Cys	rs1264870300	missense variant	-	NC_000001.11:g.207527062C>T	TOPMed
CR1	P17927	p.Arg369His	rs1377758568	missense variant	-	NC_000001.11:g.207527063G>A	TOPMed,gnomAD
CR1	P17927	p.Asn375Tyr	rs1312626897	missense variant	-	NC_000001.11:g.207527080A>T	TOPMed,gnomAD
CR1	P17927	p.Leu378Phe	rs1243032606	missense variant	-	NC_000001.11:g.207527089C>T	gnomAD
CR1	P17927	p.Asp383Asn	rs1432450817	missense variant	-	NC_000001.11:g.207527104G>A	TOPMed,gnomAD
CR1	P17927	p.Glu388Ter	rs1336794654	stop gained	-	NC_000001.11:g.207527119G>T	TOPMed
CR1	P17927	p.Glu388Gly	rs1394855205	missense variant	-	NC_000001.11:g.207527120A>G	TOPMed
CR1	P17927	p.Glu388Lys	rs1336794654	missense variant	-	NC_000001.11:g.207527119G>A	TOPMed
CR1	P17927	p.Val565Leu	rs1264446061	missense variant	-	NC_000001.11:g.207534238G>T	TOPMed
CR1	P17927	p.Gln572His	rs200755424	missense variant	-	NC_000001.11:g.207534261G>T	TOPMed,gnomAD
CR1	P17927	p.Arg576Lys	rs1385355747	missense variant	-	NC_000001.11:g.207534272G>A	TOPMed
CR1	P17927	p.Thr582Ala	rs949243899	missense variant	-	NC_000001.11:g.207534289A>G	TOPMed
CR1	P17927	p.Thr583Pro	rs771009691	missense variant	-	NC_000001.11:g.207534292A>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly677Ser	rs1449388443	missense variant	-	NC_000001.11:g.207560930G>A	TOPMed,gnomAD
CR1	P17927	p.Ile684Thr	rs1349409945	missense variant	-	NC_000001.11:g.207560952T>C	gnomAD
CR1	P17927	p.Thr689Met	rs1300480503	missense variant	-	NC_000001.11:g.207560967C>T	gnomAD
CR1	P17927	p.Val711Ile	rs1351649221	missense variant	-	NC_000001.11:g.207561032G>A	gnomAD
CR1	P17927	p.Val746Ala	rs1422063204	missense variant	-	NC_000001.11:g.207563864T>C	gnomAD
CR1	P17927	p.Pro749Ser	rs1172663765	missense variant	-	NC_000001.11:g.207563872C>T	gnomAD
CR1	P17927	p.Pro750Ser	rs772748383	missense variant	-	NC_000001.11:g.207563875C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu757Lys	rs1306529247	missense variant	-	NC_000001.11:g.207563896G>A	gnomAD
CR1	P17927	p.Arg758Leu	rs770372494	missense variant	-	NC_000001.11:g.207563900G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg758Cys	rs746473308	missense variant	-	NC_000001.11:g.207563899C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg758His	rs770372494	missense variant	-	NC_000001.11:g.207563900G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr759Asn	rs776512609	missense variant	-	NC_000001.11:g.207563903C>A	ExAC,gnomAD
CR1	P17927	p.Arg761Lys	rs1215770381	missense variant	-	NC_000001.11:g.207563909G>A	gnomAD
CR1	P17927	p.Asp762Val	rs764994827	missense variant	-	NC_000001.11:g.207563912A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys763Asn	rs1341341110	missense variant	-	NC_000001.11:g.207563916G>T	gnomAD
CR1	P17927	p.Asp764Gly	rs775322428	missense variant	-	NC_000001.11:g.207563918A>G	ExAC,gnomAD
CR1	P17927	p.Pro768Leu	rs1282192185	missense variant	-	NC_000001.11:g.207563930C>T	gnomAD
CR1	P17927	p.Gly769Arg	rs767720284	missense variant	-	NC_000001.11:g.207563932G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly769Val	rs1346641257	missense variant	-	NC_000001.11:g.207563933G>T	TOPMed
CR1	P17927	p.Ser775Ile	rs1390911625	missense variant	-	NC_000001.11:g.207563951G>T	gnomAD
CR1	P17927	p.Pro778Thr	rs766604567	missense variant	-	NC_000001.11:g.207563959C>A	ExAC,gnomAD
CR1	P17927	p.Gly779Ser	rs375660602	missense variant	-	NC_000001.11:g.207563962G>A	ESP,TOPMed,gnomAD
CR1	P17927	p.Tyr780Cys	rs755596402	missense variant	-	NC_000001.11:g.207563966A>G	ExAC
CR1	P17927	p.Asp781Asn	rs1357020474	missense variant	-	NC_000001.11:g.207563968G>A	TOPMed,gnomAD
CR1	P17927	p.Ala785Ser	rs1227496417	missense variant	-	NC_000001.11:g.207563980G>T	gnomAD
CR1	P17927	p.Ala786Val	rs1320601581	missense variant	-	NC_000001.11:g.207563984C>T	TOPMed,gnomAD
CR1	P17927	p.Arg789His	rs201018148	missense variant	-	NC_000001.11:g.207563993G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg789Cys	rs753042039	missense variant	-	NC_000001.11:g.207563992C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys790Arg	rs1330754846	missense variant	-	NC_000001.11:g.207563995T>C	TOPMed,gnomAD
CR1	P17927	p.Pro792Thr	rs1276305457	missense variant	-	NC_000001.11:g.207564001C>A	gnomAD
CR1	P17927	p.Gly794Arg	rs1210895497	missense variant	-	NC_000001.11:g.207564007G>A	gnomAD
CR1	P17927	p.Gly794Glu	rs561614144	missense variant	-	NC_000001.11:g.207564008G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp795Glu	rs1464454973	missense variant	-	NC_000001.11:g.207564012C>G	TOPMed,gnomAD
CR1	P17927	p.Trp796Cys	rs770446264	missense variant	-	NC_000001.11:g.207564015G>C	ExAC,gnomAD
CR1	P17927	p.Ser797Asn	rs1248917378	missense variant	-	NC_000001.11:g.207564017G>A	gnomAD
CR1	P17927	p.Pro798Ser	rs1472841505	missense variant	-	NC_000001.11:g.207564019C>T	TOPMed
CR1	P17927	p.Ala799Val	rs1172333018	missense variant	-	NC_000001.11:g.207564023C>T	gnomAD
CR1	P17927	p.Pro801Ala	rs1464850502	missense variant	-	NC_000001.11:g.207564028C>G	TOPMed,gnomAD
CR1	P17927	p.Thr802Arg	rs745791931	missense variant	-	NC_000001.11:g.207564032C>G	ExAC,gnomAD
CR1	P17927	p.Thr802Ile	rs745791931	missense variant	-	NC_000001.11:g.207564032C>T	ExAC,gnomAD
CR1	P17927	p.Val805Ala	rs780677106	missense variant	-	NC_000001.11:g.207564132T>C	ExAC,gnomAD
CR1	P17927	p.Lys806Ter	rs1160988535	stop gained	-	NC_000001.11:g.207564134A>T	TOPMed
CR1	P17927	p.Lys806Thr	rs1034671714	missense variant	-	NC_000001.11:g.207564135A>C	TOPMed,gnomAD
CR1	P17927	p.Ser807Phe	rs1287510617	missense variant	-	NC_000001.11:g.207564138C>T	gnomAD
CR1	P17927	p.Asp810Gly	rs959893502	missense variant	-	NC_000001.11:g.207564147A>G	TOPMed
CR1	P17927	p.Met812Leu	rs552282176	missense variant	-	NC_000001.11:g.207564152A>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Met812Thr	rs1250324619	missense variant	-	NC_000001.11:g.207564153T>C	TOPMed
CR1	P17927	p.Met812Leu	rs552282176	missense variant	-	NC_000001.11:g.207564152A>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly813Asp	rs375592996	missense variant	-	NC_000001.11:g.207564156G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu816Phe	rs760943508	missense variant	-	NC_000001.11:g.207564164C>T	ExAC,gnomAD
CR1	P17927	p.Gly818Val	rs777009868	missense variant	-	NC_000001.11:g.207564171G>T	ExAC,gnomAD
CR1	P17927	p.Gly818Asp	rs777009868	missense variant	-	NC_000001.11:g.207564171G>A	ExAC,gnomAD
CR1	P17927	p.Arg819Cys	rs759642548	missense variant	-	NC_000001.11:g.207564173C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg819His	rs202041119	missense variant	-	NC_000001.11:g.207564174G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val820Leu	rs534738787	missense variant	-	NC_000001.11:g.207564176G>C	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Val820Gly	rs763421051	missense variant	-	NC_000001.11:g.207564177T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe822Leu	rs1322350210	missense variant	-	NC_000001.11:g.207564184T>A	TOPMed
CR1	P17927	p.Phe822Ser	rs1330776023	missense variant	-	NC_000001.11:g.207564183T>C	gnomAD
CR1	P17927	p.Gln827Lys	rs1472141634	missense variant	-	NC_000001.11:g.207564197C>A	gnomAD
CR1	P17927	p.Gln827His	rs368907207	missense variant	-	NC_000001.11:g.207564199G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys831Glu	rs751935590	missense variant	-	NC_000001.11:g.207564209A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys831Arg	rs757631233	missense variant	-	NC_000001.11:g.207564210A>G	ExAC,gnomAD
CR1	P17927	p.Val832Leu	rs767107915	missense variant	-	NC_000001.11:g.207564212G>C	ExAC,gnomAD
CR1	P17927	p.Asp837Asn	rs750106511	missense variant	-	NC_000001.11:g.207564227G>A	ExAC,gnomAD
CR1	P17927	p.Gly839Ala	rs1336336392	missense variant	-	NC_000001.11:g.207564234G>C	gnomAD
CR1	P17927	p.Phe840Cys	rs753215274	missense variant	-	NC_000001.11:g.207565840T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln841Arg	rs181688823	missense variant	-	NC_000001.11:g.207565843A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys843Arg	rs1306297051	missense variant	-	NC_000001.11:g.207565849A>G	gnomAD
CR1	P17927	p.Ser845Arg	rs778669699	missense variant	-	NC_000001.11:g.207565856C>A	ExAC,gnomAD
CR1	P17927	p.Ser846Cys	rs199990810	missense variant	-	NC_000001.11:g.207565858C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser846Phe	rs199990810	missense variant	-	NC_000001.11:g.207565858C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser846Pro	rs758240530	missense variant	-	NC_000001.11:g.207565857T>C	ExAC,gnomAD
CR1	P17927	p.Ala847Ser	rs1174374251	missense variant	-	NC_000001.11:g.207565860G>T	TOPMed,gnomAD
CR1	P17927	p.Leu852Phe	rs991603750	missense variant	-	NC_000001.11:g.207565877G>C	TOPMed
CR1	P17927	p.Ala853Thr	rs775786887	missense variant	-	NC_000001.11:g.207565878G>A	ExAC,gnomAD
CR1	P17927	p.Gly854Arg	rs1413770280	missense variant	-	NC_000001.11:g.207565881G>C	TOPMed,gnomAD
CR1	P17927	p.Gly854Val	rs1464911781	missense variant	-	NC_000001.11:g.207565882G>T	TOPMed,gnomAD
CR1	P17927	p.Met855Thr	rs1348639928	missense variant	-	NC_000001.11:g.207565885T>C	TOPMed
CR1	P17927	p.Met855Leu	rs774806895	missense variant	-	NC_000001.11:g.207565884A>T	ExAC,gnomAD
CR1	P17927	p.Glu856Lys	rs200885342	missense variant	-	NC_000001.11:g.207565887G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp859Cys	rs1240057615	missense variant	-	NC_000001.11:g.207565898G>C	TOPMed
CR1	P17927	p.Ser862Asn	rs761027851	missense variant	-	NC_000001.11:g.207565906G>A	ExAC,gnomAD
CR1	P17927	p.Ser862Arg	rs971470532	missense variant	-	NC_000001.11:g.207565907T>G	TOPMed,gnomAD
CR1	P17927	p.Val863Ile	rs765886000	missense variant	-	NC_000001.11:g.207565908G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro864Thr	rs201872183	missense variant	-	NC_000001.11:g.207565911C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro864Ser	rs201872183	missense variant	-	NC_000001.11:g.207565911C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu867Lys	rs1457796524	missense variant	-	NC_000001.11:g.207565920G>A	gnomAD
CR1	P17927	p.Gln868Lys	rs370291677	missense variant	-	NC_000001.11:g.207565923C>A	ESP,TOPMed,gnomAD
CR1	P17927	p.Gln868Ter	rs370291677	stop gained	-	NC_000001.11:g.207565923C>T	ESP,TOPMed,gnomAD
CR1	P17927	p.Ile869Met	rs773718302	missense variant	-	NC_000001.11:g.207567828C>G	ExAC
CR1	P17927	p.Ile869Asn	rs1221665821	missense variant	-	NC_000001.11:g.207567827T>A	gnomAD
CR1	P17927	p.Cys871Tyr	rs1489844815	missense variant	-	NC_000001.11:g.207567833G>A	gnomAD
CR1	P17927	p.Cys871Gly	rs1264749949	missense variant	-	NC_000001.11:g.207567832T>G	gnomAD
CR1	P17927	p.Cys871Trp	rs760895493	missense variant	-	NC_000001.11:g.207567834T>G	ExAC,gnomAD
CR1	P17927	p.Pro872Thr	rs771362085	missense variant	-	NC_000001.11:g.207567835C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro874Ser	rs1473041661	missense variant	-	NC_000001.11:g.207567841C>T	gnomAD
CR1	P17927	p.Pro875Ser	rs1181808330	missense variant	-	NC_000001.11:g.207567844C>T	TOPMed,gnomAD
CR1	P17927	p.Pro875Ala	rs1181808330	missense variant	-	NC_000001.11:g.207567844C>G	TOPMed,gnomAD
CR1	P17927	p.Val876Ala	rs149099494	missense variant	-	NC_000001.11:g.207567848T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile877Val	rs368350236	missense variant	-	NC_000001.11:g.207567850A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile877Thr	rs1165614076	missense variant	-	NC_000001.11:g.207567851T>C	TOPMed,gnomAD
CR1	P17927	p.Asn879Thr	rs1423351763	missense variant	-	NC_000001.11:g.207567857A>C	gnomAD
CR1	P17927	p.Asn879Lys	rs372043685	missense variant	-	NC_000001.11:g.207567858T>G	ESP,TOPMed,gnomAD
CR1	P17927	p.His882Tyr	rs201131753	missense variant	-	NC_000001.11:g.207567865C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His882Asn	rs201131753	missense variant	-	NC_000001.11:g.207567865C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His882Gln	rs762557988	missense variant	-	NC_000001.11:g.207567867C>A	ExAC,gnomAD
CR1	P17927	p.Lys885Arg	rs764066230	missense variant	-	NC_000001.11:g.207567875A>G	ExAC,gnomAD
CR1	P17927	p.Pro886Ser	rs751577790	missense variant	-	NC_000001.11:g.207567877C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro886Thr	rs751577790	missense variant	-	NC_000001.11:g.207567877C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu888Gln	rs1311448168	missense variant	-	NC_000001.11:g.207567883G>C	gnomAD
CR1	P17927	p.Val889Gly	rs1357146819	missense variant	-	NC_000001.11:g.207567887T>G	gnomAD
CR1	P17927	p.Pro891Ser	rs372477607	missense variant	-	NC_000001.11:g.207567892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro891Arg	rs1275076141	missense variant	-	NC_000001.11:g.207567893C>G	gnomAD
CR1	P17927	p.Phe892Ile	rs781087630	missense variant	-	NC_000001.11:g.207567895T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe892Leu	rs781087630	missense variant	-	NC_000001.11:g.207567895T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys894Asn	rs748164192	missense variant	-	NC_000001.11:g.207567903A>C	ExAC,gnomAD
CR1	P17927	p.Lys894Thr	rs779108707	missense variant	-	NC_000001.11:g.207567902A>C	ExAC,gnomAD
CR1	P17927	p.Ala895Thr	rs202021797	missense variant	-	NC_000001.11:g.207567904G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala895Glu	rs747595626	missense variant	-	NC_000001.11:g.207567905C>A	ExAC,gnomAD
CR1	P17927	p.Ala895Gly	rs747595626	missense variant	-	NC_000001.11:g.207567905C>G	ExAC,gnomAD
CR1	P17927	p.Ala895Pro	rs202021797	missense variant	-	NC_000001.11:g.207567904G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn897Ser	rs745504173	missense variant	-	NC_000001.11:g.207567911A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr899Ala	rs1391329090	missense variant	-	NC_000001.11:g.207567916A>G	gnomAD
CR1	P17927	p.Cys900Ter	rs374989718	stop gained	-	NC_000001.11:g.207567921C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys900Trp	rs374989718	missense variant	-	NC_000001.11:g.207567921C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys900Gly	rs775295497	missense variant	-	NC_000001.11:g.207567919T>G	ExAC,gnomAD
CR1	P17927	p.Cys900Tyr	rs1015070666	missense variant	-	NC_000001.11:g.207567920G>A	TOPMed,gnomAD
CR1	P17927	p.Asp901Glu	rs761866338	missense variant	-	NC_000001.11:g.207567924C>A	ExAC,gnomAD
CR1	P17927	p.Asp901Asn	rs571845275	missense variant	-	NC_000001.11:g.207567922G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp901Tyr	rs571845275	missense variant	-	NC_000001.11:g.207567922G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro902His	rs1183095958	missense variant	-	NC_000001.11:g.207567926C>A	TOPMed
CR1	P17927	p.His903Arg	rs767210068	missense variant	-	NC_000001.11:g.207567929A>G	ExAC
CR1	P17927	p.Pro904Arg	rs534360109	missense variant	-	NC_000001.11:g.207567932C>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp905Glu	rs1280533160	missense variant	-	NC_000001.11:g.207567936C>G	gnomAD
CR1	P17927	p.Asp905Asn	rs1212539706	missense variant	-	NC_000001.11:g.207567934G>A	gnomAD
CR1	P17927	p.Arg906Ser	rs1262040038	missense variant	-	NC_000001.11:g.207567939A>T	TOPMed
CR1	P17927	p.Thr908Met	rs370005351	missense variant	-	NC_000001.11:g.207567944C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp911Asn	rs777884906	missense variant	-	NC_000001.11:g.207567952G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp911Val	rs184230550	missense variant	-	NC_000001.11:g.207567953A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile913Ser	rs781556299	missense variant	-	NC_000001.11:g.207567959T>G	ExAC,gnomAD
CR1	P17927	p.Ile913Thr	rs781556299	missense variant	-	NC_000001.11:g.207567959T>C	ExAC,gnomAD
CR1	P17927	p.Ile913Val	rs1475400936	missense variant	-	NC_000001.11:g.207567958A>G	gnomAD
CR1	P17927	p.Glu915Gly	rs1363859112	missense variant	-	NC_000001.11:g.207567965A>G	TOPMed
CR1	P17927	p.Glu915Asp	rs775251803	missense variant	-	NC_000001.11:g.207567966G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr917Pro	rs1458324453	missense variant	-	NC_000001.11:g.207567970A>C	gnomAD
CR1	P17927	p.Thr917Ile	rs768266054	missense variant	-	NC_000001.11:g.207567971C>T	ExAC,gnomAD
CR1	P17927	p.Ile918Met	rs773977331	missense variant	-	NC_000001.11:g.207567975C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919Ser	rs761231049	missense variant	-	NC_000001.11:g.207567976C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919His	rs374276678	missense variant	-	NC_000001.11:g.207567977G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919Cys	rs761231049	missense variant	-	NC_000001.11:g.207567976C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys920Gly	rs1367970413	missense variant	-	NC_000001.11:g.207567979T>G	gnomAD
CR1	P17927	p.Ser922Ile	rs1262700810	missense variant	-	NC_000001.11:g.207567986G>T	gnomAD
CR1	P17927	p.Pro924Ala	rs760418677	missense variant	-	NC_000001.11:g.207567991C>G	ExAC,gnomAD
CR1	P17927	p.Gln925Arg	rs1268890328	missense variant	-	NC_000001.11:g.207567995A>G	TOPMed,gnomAD
CR1	P17927	p.Gln925Lys	rs200795754	missense variant	-	NC_000001.11:g.207567994C>A	ExAC,gnomAD
CR1	P17927	p.Gly926Arg	rs752899033	missense variant	-	NC_000001.11:g.207567997G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn927Lys	rs1248982724	missense variant	-	NC_000001.11:g.207568002T>A	gnomAD
CR1	P17927	p.Pro933Ser	rs751591351	missense variant	-	NC_000001.11:g.207568018C>T	ExAC,gnomAD
CR1	P17927	p.Ala934Asp	rs757299511	missense variant	-	NC_000001.11:g.207568022C>A	ExAC,gnomAD
CR1	P17927	p.Arg936Cys	rs1191814074	missense variant	-	NC_000001.11:g.207568027C>T	TOPMed,gnomAD
CR1	P17927	p.Arg936His	rs746394762	missense variant	-	NC_000001.11:g.207568028G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile939Thr	rs377522648	missense variant	-	NC_000001.11:g.207568037T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly941Ser	rs1449928382	missense variant	-	NC_000001.11:g.207568042G>A	TOPMed,gnomAD
CR1	P17927	p.Lys1005Glu	rs1421917723	missense variant	-	NC_000001.11:g.207569858A>G	TOPMed
CR1	P17927	p.Pro1008Gln	rs1168646960	missense variant	-	NC_000001.11:g.207569868C>A	TOPMed
CR1	P17927	p.Val1011Ala	rs1245886273	missense variant	-	NC_000001.11:g.207569877T>C	TOPMed
CR1	P17927	p.Val1011Leu	rs953015213	missense variant	-	NC_000001.11:g.207569876G>T	TOPMed
CR1	P17927	p.Val1011Gly	rs1245886273	missense variant	-	NC_000001.11:g.207569877T>G	TOPMed
CR1	P17927	p.Gly1013Ala	rs1469757540	missense variant	-	NC_000001.11:g.207569883G>C	TOPMed
CR1	P17927	p.Val1015Ala	rs1253160229	missense variant	-	NC_000001.11:g.207569889T>C	TOPMed
CR1	P17927	p.Ile1018Met	rs1214754336	missense variant	-	NC_000001.11:g.207569899C>G	TOPMed
CR1	P17927	p.Ile1018Val	rs1274705568	missense variant	-	NC_000001.11:g.207569897A>G	TOPMed
CR1	P17927	p.Gln1022His	rs1344800847	missense variant	-	NC_000001.11:g.207569911G>T	TOPMed
CR1	P17927	p.Thr1033Ala	rs1273419682	missense variant	-	NC_000001.11:g.207569942A>G	TOPMed
CR1	P17927	p.Gly1034Glu	rs1336741853	missense variant	-	NC_000001.11:g.207569946G>A	TOPMed
CR1	P17927	p.Gly1034Val	rs1336741853	missense variant	-	NC_000001.11:g.207569946G>T	TOPMed
CR1	P17927	p.His1035Asp	rs1237612769	missense variant	-	NC_000001.11:g.207575596C>G	TOPMed,gnomAD
CR1	P17927	p.His1035Gln	rs747792543	missense variant	-	NC_000001.11:g.207575598C>G	ExAC,gnomAD
CR1	P17927	p.His1035Asn	rs1237612769	missense variant	-	NC_000001.11:g.207575596C>A	TOPMed,gnomAD
CR1	P17927	p.Arg1036Ter	rs771592989	stop gained	-	NC_000001.11:g.207575599C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1036Leu	rs777209480	missense variant	-	NC_000001.11:g.207575600G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1036Gln	rs777209480	missense variant	-	NC_000001.11:g.207575600G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1038Leu	rs770792733	missense variant	-	NC_000001.11:g.207575605A>C	ExAC,gnomAD
CR1	P17927	p.His1040Gln	rs776564592	missense variant	-	NC_000001.11:g.207575613C>G	ExAC,gnomAD
CR1	P17927	p.His1040Tyr	rs1408075849	missense variant	-	NC_000001.11:g.207575611C>T	TOPMed
CR1	P17927	p.Ser1042Pro	rs763763079	missense variant	-	NC_000001.11:g.207575617T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1042Ala	rs763763079	missense variant	-	NC_000001.11:g.207575617T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1044Gln	rs1459719681	missense variant	-	NC_000001.11:g.207575623G>C	TOPMed
CR1	P17927	p.Cys1045Arg	rs570846321	missense variant	-	NC_000001.11:g.207575626T>C	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ile1046Val	rs774602910	missense variant	-	NC_000001.11:g.207575629A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1046Asn	rs201078030	missense variant	-	NC_000001.11:g.207575630T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1048Leu	rs553365200	missense variant	-	NC_000001.11:g.207575636C>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly1049Val	rs766940813	missense variant	-	NC_000001.11:g.207575639G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1049Asp	rs766940813	missense variant	-	NC_000001.11:g.207575639G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1050Ser	rs754422784	missense variant	-	NC_000001.11:g.207575642A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1051Ala	rs755335900	missense variant	-	NC_000001.11:g.207575644A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1052Thr	rs779191296	missense variant	-	NC_000001.11:g.207575647G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.His1053Tyr	rs752383886	missense variant	-	NC_000001.11:g.207575650C>T	ExAC,gnomAD
CR1	P17927	p.His1053Arg	rs1337602180	missense variant	-	NC_000001.11:g.207575651A>G	TOPMed
CR1	P17927	p.His1053Gln	rs758055423	missense variant	-	NC_000001.11:g.207575652T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1055Gly	rs1383957339	missense variant	-	NC_000001.11:g.207575656A>G	TOPMed
CR1	P17927	p.Ser1055Asn	rs777411818	missense variant	-	NC_000001.11:g.207575657G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1056Lys	rs746467906	missense variant	-	NC_000001.11:g.207575660C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1056Met	rs746467906	missense variant	-	NC_000001.11:g.207575660C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1057Asn	rs1367603804	missense variant	-	NC_000001.11:g.207575664G>T	gnomAD
CR1	P17927	p.Pro1058Leu	rs555835431	missense variant	-	NC_000001.11:g.207575666C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1058Ser	rs745847025	missense variant	-	NC_000001.11:g.207575665C>T	ExAC,gnomAD
CR1	P17927	p.Pro1059Arg	rs1383335271	missense variant	-	NC_000001.11:g.207575669C>G	gnomAD
CR1	P17927	p.Ile1060Thr	rs1386755543	missense variant	-	NC_000001.11:g.207575672T>C	TOPMed
CR1	P17927	p.Cys1061Gly	rs1187794880	missense variant	-	NC_000001.11:g.207575674T>G	TOPMed
CR1	P17927	p.Gln1062Lys	rs908445235	missense variant	-	NC_000001.11:g.207575677C>A	TOPMed,gnomAD
CR1	P17927	p.Gln1062Arg	rs1295283903	missense variant	-	NC_000001.11:g.207575678A>G	gnomAD
CR1	P17927	p.Arg1063Pro	rs1403506210	missense variant	-	NC_000001.11:g.207577805G>C	gnomAD
CR1	P17927	p.Arg1063Ter	rs374550920	stop gained	-	NC_000001.11:g.207575680C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1066Arg	rs1373648733	missense variant	-	NC_000001.11:g.207577813T>C	gnomAD
CR1	P17927	p.Gly1067Glu	rs1195986892	missense variant	-	NC_000001.11:g.207577817G>A	TOPMed
CR1	P17927	p.Pro1069Ser	rs764482737	missense variant	-	NC_000001.11:g.207577822C>T	ExAC,gnomAD
CR1	P17927	p.Pro1069His	rs1469308908	missense variant	-	NC_000001.11:g.207577823C>A	TOPMed
CR1	P17927	p.Pro1070Arg	rs767159288	missense variant	-	NC_000001.11:g.207577826C>G	ExAC,gnomAD
CR1	P17927	p.Pro1070Ser	rs756968920	missense variant	-	NC_000001.11:g.207577825C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1071Ala	rs779811757	missense variant	-	NC_000001.11:g.207577828A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1072Val	rs527886855	missense variant	-	NC_000001.11:g.207577831A>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ile1072Thr	rs754796360	missense variant	-	NC_000001.11:g.207577832T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1073Thr	rs187750583	missense variant	-	NC_000001.11:g.207577834G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1074Lys	rs1426065925	missense variant	-	NC_000001.11:g.207577839T>A	gnomAD
CR1	P17927	p.Gly1075Glu	rs781494007	missense variant	-	NC_000001.11:g.207577841G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1076Asn	rs745890450	missense variant	-	NC_000001.11:g.207577843G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1076Glu	rs1423089942	missense variant	-	NC_000001.11:g.207577845T>G	TOPMed,gnomAD
CR1	P17927	p.Asp1076His	rs745890450	missense variant	-	NC_000001.11:g.207577843G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1078Ser	rs1170902959	missense variant	-	NC_000001.11:g.207577850T>G	gnomAD
CR1	P17927	p.Ser1079Asn	rs1330653516	missense variant	-	NC_000001.11:g.207577853G>A	TOPMed
CR1	P17927	p.Arg1082Gly	rs1170650435	missense variant	-	NC_000001.11:g.207577861A>G	TOPMed
CR1	P17927	p.Glu1083Asp	rs561267294	missense variant	-	NC_000001.11:g.207577866G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1084Tyr	rs768997678	missense variant	-	NC_000001.11:g.207577867A>T	ExAC,gnomAD
CR1	P17927	p.Asn1084Asp	rs768997678	missense variant	-	NC_000001.11:g.207577867A>G	ExAC,gnomAD
CR1	P17927	p.His1086Arg	rs762177173	missense variant	-	NC_000001.11:g.207577874A>G	ExAC,gnomAD
CR1	P17927	p.Tyr1087Cys	rs767107916	missense variant	-	NC_000001.11:g.207577877A>G	ExAC,gnomAD
CR1	P17927	p.TyrGly1087Ter	rs1412213267	stop gained	-	NC_000001.11:g.207577878_207577879del	gnomAD
CR1	P17927	p.Gly1088Ter	rs1314240617	stop gained	-	NC_000001.11:g.207577879G>T	gnomAD
CR1	P17927	p.Tyr1093Cys	rs1454378623	missense variant	-	NC_000001.11:g.207577895A>G	TOPMed
CR1	P17927	p.Arg1094His	rs752485037	missense variant	-	NC_000001.11:g.207577898G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1094Cys	rs772782879	missense variant	-	NC_000001.11:g.207577897C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1095Tyr	rs758293909	missense variant	-	NC_000001.11:g.207577901G>A	ExAC,gnomAD
CR1	P17927	p.Cys1095Ter	rs1184324442	stop gained	-	NC_000001.11:g.207577902C>A	gnomAD
CR1	P17927	p.Asn1096Lys	rs781234907	missense variant	-	NC_000001.11:g.207577905T>A	ExAC,gnomAD
CR1	P17927	p.Asn1096LysArgTerValAspTerLeuTyrArgUnk	rs758851350	stop gained	-	NC_000001.11:g.207577904_207577905insAAGATGAGTAGACTGACTATATAGAG	ExAC
CR1	P17927	p.Leu1097Pro	rs200111726	missense variant	-	NC_000001.11:g.207577907T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1097Arg	rs200111726	missense variant	-	NC_000001.11:g.207577907T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1097Phe	rs746142277	missense variant	-	NC_000001.11:g.207577906C>T	ExAC
CR1	P17927	p.Arg1100Thr	rs769092015	missense variant	-	NC_000001.11:g.207577916G>C	ExAC,gnomAD
CR1	P17927	p.Arg1100Ile	rs769092015	missense variant	-	NC_000001.11:g.207577916G>T	ExAC,gnomAD
CR1	P17927	p.Arg1100Gly	rs202070239	missense variant	-	NC_000001.11:g.207577915A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1101Arg	rs1409764234	missense variant	-	NC_000001.11:g.207577918G>A	gnomAD
CR1	P17927	p.Lys1103Asn	rs774860182	missense variant	-	NC_000001.11:g.207577926G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1106Lys	rs762125782	missense variant	-	NC_000001.11:g.207577933G>A	ExAC,gnomAD
CR1	P17927	p.Leu1107Val	rs772522776	missense variant	-	NC_000001.11:g.207577936C>G	ExAC,gnomAD
CR1	P17927	p.Leu1107Phe	rs772522776	missense variant	-	NC_000001.11:g.207577936C>T	ExAC,gnomAD
CR1	P17927	p.Val1108Ala	rs1270543142	missense variant	-	NC_000001.11:g.207577940T>C	gnomAD
CR1	P17927	p.Gly1109Val	rs1282812707	missense variant	-	NC_000001.11:g.207577943G>T	TOPMed
CR1	P17927	p.Glu1110Lys	rs1212592417	missense variant	-	NC_000001.11:g.207577945G>A	gnomAD
CR1	P17927	p.Pro1111Leu	rs1293651285	missense variant	-	NC_000001.11:g.207577949C>T	gnomAD
CR1	P17927	p.Ile1113Met	rs765800008	missense variant	-	NC_000001.11:g.207577956A>G	ExAC,gnomAD
CR1	P17927	p.Ile1113Val	rs984613445	missense variant	-	NC_000001.11:g.207577954A>G	TOPMed,gnomAD
CR1	P17927	p.Tyr1114His	rs1262658729	missense variant	-	NC_000001.11:g.207577957T>C	gnomAD
CR1	P17927	p.Thr1116Ser	rs1389630111	missense variant	-	NC_000001.11:g.207577964C>G	TOPMed
CR1	P17927	p.Thr1116Pro	rs1308396686	missense variant	-	NC_000001.11:g.207577963A>C	TOPMed
CR1	P17927	p.Asn1118Lys	rs1460360122	missense variant	-	NC_000001.11:g.207577971T>A	TOPMed,gnomAD
CR1	P17927	p.Asn1118Asp	rs753325833	missense variant	-	NC_000001.11:g.207577969A>G	ExAC
CR1	P17927	p.Asp1119Gly	rs1243203429	missense variant	-	NC_000001.11:g.207577973A>G	TOPMed,gnomAD
CR1	P17927	p.Asp1120Asn	rs765221100	missense variant	-	NC_000001.11:g.207577975G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1120Val	rs1314381180	missense variant	-	NC_000001.11:g.207577976A>T	TOPMed
CR1	P17927	p.Asp1120His	rs765221100	missense variant	-	NC_000001.11:g.207577975G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1120Tyr	rs765221100	missense variant	-	NC_000001.11:g.207577975G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1122Ala	rs758236755	missense variant	-	NC_000001.11:g.207577982T>C	ExAC,gnomAD
CR1	P17927	p.Val1122Gly	rs758236755	missense variant	-	NC_000001.11:g.207577982T>G	ExAC,gnomAD
CR1	P17927	p.Ile1124Leu	rs1175086359	missense variant	-	NC_000001.11:g.207577987A>C	gnomAD
CR1	P17927	p.Ile1124Met	rs750598422	missense variant	-	NC_000001.11:g.207577989C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp1125Arg	rs756426946	missense variant	-	NC_000001.11:g.207577990T>A	ExAC,gnomAD
CR1	P17927	p.Ser1126Gly	rs1318816146	missense variant	-	NC_000001.11:g.207577993A>G	gnomAD
CR1	P17927	p.Gly1127Ser	rs749316044	missense variant	-	NC_000001.11:g.207577996G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1127Val	rs1295120917	missense variant	-	NC_000001.11:g.207577997G>T	gnomAD
CR1	P17927	p.Pro1128His	rs1421409370	missense variant	-	NC_000001.11:g.207578000C>A	TOPMed
CR1	P17927	p.Ala1129Pro	rs201139679	missense variant	-	NC_000001.11:g.207578002G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1129Gly	rs1282898634	missense variant	-	NC_000001.11:g.207578003C>G	gnomAD
CR1	P17927	p.Ala1129Thr	rs201139679	missense variant	-	NC_000001.11:g.207578002G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1129Val	rs1282898634	missense variant	-	NC_000001.11:g.207578003C>T	gnomAD
CR1	P17927	p.Gln1131His	rs1259840716	missense variant	-	NC_000001.11:g.207578010G>C	TOPMed
CR1	P17927	p.Cys1132Tyr	rs747336966	missense variant	-	NC_000001.11:g.207578012G>A	ExAC,gnomAD
CR1	P17927	p.Cys1132Gly	rs1225565505	missense variant	-	NC_000001.11:g.207578011T>G	gnomAD
CR1	P17927	p.Ile1134Thr	rs1052621279	missense variant	-	NC_000001.11:g.207578018T>C	TOPMed,gnomAD
CR1	P17927	p.Pro1135Leu	rs770561116	missense variant	-	NC_000001.11:g.207578021C>T	ExAC,gnomAD
CR1	P17927	p.Pro1135Ser	rs1214048976	missense variant	-	NC_000001.11:g.207578020C>T	gnomAD
CR1	P17927	p.Thr1139Arg	rs534561631	missense variant	-	NC_000001.11:g.207578033C>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1139Met	rs534561631	missense variant	-	NC_000001.11:g.207578033C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1141Leu	rs1043874726	missense variant	-	NC_000001.11:g.207578039C>T	TOPMed,gnomAD
CR1	P17927	p.Asn1145Asp	rs1266340909	missense variant	-	NC_000001.11:g.207578050A>G	gnomAD
CR1	P17927	p.Gly1146Arg	rs775546714	missense variant	-	NC_000001.11:g.207578053G>A	ExAC,gnomAD
CR1	P17927	p.Gly1146Glu	rs1158666652	missense variant	-	NC_000001.11:g.207578054G>A	gnomAD
CR1	P17927	p.Ile1147Thr	rs193112197	missense variant	-	NC_000001.11:g.207578057T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1148Ser	rs763794161	missense variant	-	NC_000001.11:g.207578060T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1150Cys	rs757023579	missense variant	-	NC_000001.11:g.207578066C>G	ExAC,gnomAD
CR1	P17927	p.Asp1151Gly	rs1302737744	missense variant	-	NC_000001.11:g.207578069A>G	TOPMed,gnomAD
CR1	P17927	p.Asn1152Asp	rs372881623	missense variant	-	NC_000001.11:g.207578071A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1153Ile	rs754099919	missense variant	-	NC_000001.11:g.207578075G>T	ExAC,gnomAD
CR1	P17927	p.Arg1153Gly	rs1444432198	missense variant	-	NC_000001.11:g.207578074A>G	gnomAD
CR1	P17927	p.Ser1154Thr	rs755023746	missense variant	-	NC_000001.11:g.207578078G>C	ExAC,gnomAD
CR1	P17927	p.Asn1159Ser	rs1002257467	missense variant	-	NC_000001.11:g.207578093A>G	TOPMed
CR1	P17927	p.Asn1159Lys	rs779018569	missense variant	-	NC_000001.11:g.207578094T>G	ExAC,gnomAD
CR1	P17927	p.Val1161Gly	rs200347439	missense variant	-	NC_000001.11:g.207578099T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1170Ile	rs758870432	missense variant	-	NC_000001.11:g.207578125T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1171Gly	rs1266265194	missense variant	-	NC_000001.11:g.207578129T>G	gnomAD
CR1	P17927	p.Val1171Phe	rs1222260909	missense variant	-	NC_000001.11:g.207578128G>T	gnomAD
CR1	P17927	p.Lys1173Glu	rs778158566	missense variant	-	NC_000001.11:g.207578134A>G	ExAC,gnomAD
CR1	P17927	p.Lys1173Asn	rs747352862	missense variant	-	NC_000001.11:g.207578136A>T	ExAC,gnomAD
CR1	P17927	p.Lys1173Arg	rs1181867961	missense variant	-	NC_000001.11:g.207578135A>G	TOPMed,gnomAD
CR1	P17927	p.Pro1175Ser	rs771234874	missense variant	-	NC_000001.11:g.207578140C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1175Thr	rs771234874	missense variant	-	NC_000001.11:g.207578140C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1176His	rs61297619	missense variant	-	NC_000001.11:g.207578144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1176Cys	rs776396416	missense variant	-	NC_000001.11:g.207578143C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1177His	rs532533959	missense variant	-	NC_000001.11:g.207578147G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1177Cys	rs769416269	missense variant	-	NC_000001.11:g.207578146C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1178Met	rs1329610747	missense variant	-	NC_000001.11:g.207578149G>A	gnomAD
CR1	P17927	p.Lys1179Gln	rs1371411457	missense variant	-	NC_000001.11:g.207578152A>C	TOPMed,gnomAD
CR1	P17927	p.Cys1180Tyr	rs762375862	missense variant	-	NC_000001.11:g.207578156G>A	ExAC,gnomAD
CR1	P17927	p.Gln1181Leu	rs764041246	missense variant	-	NC_000001.11:g.207578159A>T	ExAC,gnomAD
CR1	P17927	p.Gln1181Arg	rs764041246	missense variant	-	NC_000001.11:g.207578159A>G	ExAC,gnomAD
CR1	P17927	p.Ala1182Thr	rs761637384	missense variant	-	NC_000001.11:g.207578161G>A	ExAC,gnomAD
CR1	P17927	p.Trp1186Ser	rs1026222975	missense variant	-	NC_000001.11:g.207578174G>C	TOPMed
CR1	P17927	p.Pro1188Thr	rs1296549315	missense variant	-	NC_000001.11:g.207578179C>A	TOPMed,gnomAD
CR1	P17927	p.Pro1191Gln	rs1230422490	missense variant	-	NC_000001.11:g.207578189C>A	gnomAD
CR1	P17927	p.Pro1191Ser	rs1290093963	missense variant	-	NC_000001.11:g.207578188C>T	gnomAD
CR1	P17927	p.Ser1192Gly	rs1341035454	missense variant	-	NC_000001.11:g.207578191A>G	gnomAD
CR1	P17927	p.Arg1195Ser	rs1271856175	missense variant	-	NC_000001.11:g.207578202G>T	gnomAD
CR1	P17927	p.Val1196Glu	rs1318119342	missense variant	-	NC_000001.11:g.207580240T>A	TOPMed,gnomAD
CR1	P17927	p.Val1196Leu	rs1435525629	missense variant	-	NC_000001.11:g.207578203G>T	gnomAD
CR1	P17927	p.Val1196Ala	rs1318119342	missense variant	-	NC_000001.11:g.207580240T>C	TOPMed,gnomAD
CR1	P17927	p.Cys1197Tyr	rs1391120629	missense variant	-	NC_000001.11:g.207580243G>A	TOPMed,gnomAD
CR1	P17927	p.Cys1197Gly	rs1182589727	missense variant	-	NC_000001.11:g.207580242T>G	TOPMed
CR1	P17927	p.Gln1198His	rs1337954518	missense variant	-	NC_000001.11:g.207580247G>C	TOPMed,gnomAD
CR1	P17927	p.Pro1199Leu	rs147654348	missense variant	-	NC_000001.11:g.207580249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1201Leu	rs779818824	missense variant	-	NC_000001.11:g.207580255C>T	ExAC,gnomAD
CR1	P17927	p.Ile1203Thr	rs1268320980	missense variant	-	NC_000001.11:g.207580261T>C	TOPMed
CR1	P17927	p.Gly1206Asp	rs768195052	missense variant	-	NC_000001.11:g.207580270G>A	ExAC,gnomAD
CR1	P17927	p.Gly1206Ala	rs768195052	missense variant	-	NC_000001.11:g.207580270G>C	ExAC,gnomAD
CR1	P17927	p.Glu1207Lys	rs568448743	missense variant	-	NC_000001.11:g.207580272G>A	1000Genomes,TOPMed,gnomAD
CR1	P17927	p.His1208Tyr	rs778352919	missense variant	-	NC_000001.11:g.207580275C>T	ExAC,gnomAD
CR1	P17927	p.His1208Arg	rs2274567	missense variant	-	NC_000001.11:g.207580276A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1208Arg	rs2274567	missense variant	-	NC_000001.11:g.207580276A>G	UniProt,dbSNP
CR1	P17927	p.His1208Arg	VAR_013819	missense variant	-	NC_000001.11:g.207580276A>G	UniProt
CR1	P17927	p.Pro1210Leu	rs771937604	missense variant	-	NC_000001.11:g.207580282C>T	ExAC,gnomAD
CR1	P17927	p.Asp1214Glu	rs1228449396	missense variant	-	NC_000001.11:g.207580295C>G	TOPMed
CR1	P17927	p.Asn1215Lys	rs141954836	missense variant	-	NC_000001.11:g.207580298C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1217Ala	rs1158339739	missense variant	-	NC_000001.11:g.207580302T>G	gnomAD
CR1	P17927	p.Pro1218Ser	rs770754228	missense variant	-	NC_000001.11:g.207580305C>T	ExAC,gnomAD
CR1	P17927	p.Pro1218Arg	rs1407154782	missense variant	-	NC_000001.11:g.207580306C>G	gnomAD
CR1	P17927	p.Gly1219Arg	rs1437672373	missense variant	-	NC_000001.11:g.207580308G>A	TOPMed
CR1	P17927	p.Gly1219Glu	rs775760258	missense variant	-	NC_000001.11:g.207580309G>A	ExAC,gnomAD
CR1	P17927	p.Ser1225Gly	rs199540863	missense variant	-	NC_000001.11:g.207580326A>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ser1225Thr	rs1325396913	missense variant	-	NC_000001.11:g.207580327G>C	TOPMed
CR1	P17927	p.Glu1227Asp	rs764234206	missense variant	-	NC_000001.11:g.207580334G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1228Thr	rs1370479963	missense variant	-	NC_000001.11:g.207580335C>A	TOPMed
CR1	P17927	p.Tyr1230His	rs762000312	missense variant	-	NC_000001.11:g.207580341T>C	ExAC,gnomAD
CR1	P17927	p.Asp1231Gly	rs1283818647	missense variant	-	NC_000001.11:g.207580345A>G	TOPMed,gnomAD
CR1	P17927	p.Leu1232Phe	rs1222977501	missense variant	-	NC_000001.11:g.207580347C>T	TOPMed,gnomAD
CR1	P17927	p.Arg1233Thr	rs899385543	missense variant	-	NC_000001.11:g.207580351G>C	TOPMed
CR1	P17927	p.Ala1235Ser	rs1189542902	missense variant	-	NC_000001.11:g.207580356G>T	TOPMed,gnomAD
CR1	P17927	p.Ala1235Thr	rs1189542902	missense variant	-	NC_000001.11:g.207580356G>A	TOPMed,gnomAD
CR1	P17927	p.Ala1235Val	rs756522188	missense variant	-	NC_000001.11:g.207580357C>T	ExAC,gnomAD
CR1	P17927	p.Ala1236Glu	rs539603642	missense variant	-	NC_000001.11:g.207580360C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1236Thr	rs766708027	missense variant	-	NC_000001.11:g.207580359G>A	ExAC,gnomAD
CR1	P17927	p.Ala1236Val	rs539603642	missense variant	-	NC_000001.11:g.207580360C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1240Arg	rs1306443898	missense variant	-	NC_000001.11:g.207580371T>C	TOPMed
CR1	P17927	p.Gly1244Val	rs747606332	missense variant	-	NC_000001.11:g.207580384G>T	ExAC,gnomAD
CR1	P17927	p.Trp1246Cys	rs1029077663	missense variant	-	NC_000001.11:g.207580391G>T	TOPMed
CR1	P17927	p.Ala1250Thr	rs1299375945	missense variant	-	NC_000001.11:g.207580401G>A	gnomAD
CR1	P17927	p.Pro1251Leu	rs368172549	missense variant	-	NC_000001.11:g.207580405C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1254Ser	rs770700783	missense variant	-	NC_000001.11:g.207580413G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1254Glu	rs776361283	missense variant	-	NC_000001.11:g.207580414C>A	ExAC,gnomAD
CR1	P17927	p.Phe1261Leu	rs1188706782	missense variant	-	NC_000001.11:g.207580530C>A	TOPMed,gnomAD
CR1	P17927	p.Phe1261Ile	rs1482459919	missense variant	-	NC_000001.11:g.207580528T>A	gnomAD
CR1	P17927	p.Leu1262Ser	rs772270332	missense variant	-	NC_000001.11:g.207580532T>C	ExAC,gnomAD
CR1	P17927	p.Gly1263Arg	rs1477327262	missense variant	-	NC_000001.11:g.207580534G>C	gnomAD
CR1	P17927	p.Leu1265Phe	rs773359118	missense variant	-	NC_000001.11:g.207580540C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1268Val	rs372833120	missense variant	-	NC_000001.11:g.207580550G>T	ESP,ExAC,gnomAD
CR1	P17927	p.Arg1269Cys	rs376975386	missense variant	-	NC_000001.11:g.207580552C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1269His	rs369632766	missense variant	-	NC_000001.11:g.207580553G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1270Met	rs1399695339	missense variant	-	NC_000001.11:g.207580555G>A	TOPMed,gnomAD
CR1	P17927	p.Pro1273Arg	rs752333319	missense variant	-	NC_000001.11:g.207580565C>G	ExAC,gnomAD
CR1	P17927	p.Leu1274Arg	rs1325680043	missense variant	-	NC_000001.11:g.207580568T>G	gnomAD
CR1	P17927	p.Asn1275Ile	rs762660563	missense variant	-	NC_000001.11:g.207580571A>T	ExAC,gnomAD
CR1	P17927	p.Leu1278Pro	rs763744346	missense variant	-	NC_000001.11:g.207580580T>C	ExAC,gnomAD
CR1	P17927	p.Gly1279Glu	rs751016624	missense variant	-	NC_000001.11:g.207580583G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1279Val	rs751016624	missense variant	-	NC_000001.11:g.207580583G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1280Glu	rs750420622	missense variant	-	NC_000001.11:g.207580586C>A	ExAC,gnomAD
CR1	P17927	p.Ala1280Ser	rs780954124	missense variant	-	NC_000001.11:g.207580585G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1281Gln	rs1190970630	missense variant	-	NC_000001.11:g.207580588A>C	gnomAD
CR1	P17927	p.Lys1281Thr	rs755846047	missense variant	-	NC_000001.11:g.207580589A>C	ExAC,gnomAD
CR1	P17927	p.Ser1283Tyr	rs780364837	missense variant	-	NC_000001.11:g.207580595C>A	ExAC,gnomAD
CR1	P17927	p.Cys1286Tyr	rs778163453	missense variant	-	NC_000001.11:g.207580604G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1287Asn	rs1344330313	missense variant	-	NC_000001.11:g.207580606G>A	gnomAD
CR1	P17927	p.Glu1288Asp	rs1409265368	missense variant	-	NC_000001.11:g.207580611A>C	TOPMed
CR1	P17927	p.Phe1290Ser	rs1439006454	missense variant	-	NC_000001.11:g.207581920T>C	TOPMed,gnomAD
CR1	P17927	p.Arg1291Pro	rs772031309	missense variant	-	NC_000001.11:g.207581923G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1291Cys	rs534155454	missense variant	-	NC_000001.11:g.207581922C>T	ExAC,gnomAD
CR1	P17927	p.Arg1291His	rs772031309	missense variant	-	NC_000001.11:g.207581923G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1292Ser	rs749615846	missense variant	-	NC_000001.11:g.207581926T>C	ExAC,gnomAD
CR1	P17927	p.Gly1294Asp	rs773976185	missense variant	-	NC_000001.11:g.207581932G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1297Ile	rs200884156	missense variant	-	NC_000001.11:g.207581940G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1300Trp	rs1332177319	missense variant	-	NC_000001.11:g.207581951T>G	gnomAD
CR1	P17927	p.Cys1300Gly	rs1271611232	missense variant	-	NC_000001.11:g.207581949T>G	TOPMed
CR1	P17927	p.Val1303Ile	rs772716917	missense variant	-	NC_000001.11:g.207581958G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1303Phe	rs772716917	missense variant	-	NC_000001.11:g.207581958G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1306Thr	rs375298677	missense variant	-	NC_000001.11:g.207581968G>C	ESP,ExAC,gnomAD
CR1	P17927	p.Ser1307Thr	rs754796667	missense variant	-	NC_000001.11:g.207581971G>C	ExAC,gnomAD
CR1	P17927	p.Ser1307Arg	rs765182428	missense variant	-	NC_000001.11:g.207581972C>A	ExAC,gnomAD
CR1	P17927	p.Trp1309Arg	rs1483053926	missense variant	-	NC_000001.11:g.207581976T>C	TOPMed
CR1	P17927	p.Ser1312Asn	rs757433947	missense variant	-	NC_000001.11:g.207581986G>A	ExAC,gnomAD
CR1	P17927	p.Pro1314Ser	rs999675652	missense variant	-	NC_000001.11:g.207581991C>T	TOPMed,gnomAD
CR1	P17927	p.His1318Arg	rs758153459	missense variant	-	NC_000001.11:g.207584649A>G	ExAC,gnomAD
CR1	P17927	p.His1318Tyr	rs201880876	missense variant	-	NC_000001.11:g.207582003C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1318Leu	rs758153459	missense variant	-	NC_000001.11:g.207584649A>T	ExAC,gnomAD
CR1	P17927	p.Ile1319Asn	rs767742956	missense variant	-	NC_000001.11:g.207584652T>A	ExAC,gnomAD
CR1	P17927	p.Ile1319Thr	rs767742956	missense variant	-	NC_000001.11:g.207584652T>C	ExAC,gnomAD
CR1	P17927	p.Phe1320Ile	rs1188554576	missense variant	-	NC_000001.11:g.207584654T>A	TOPMed
CR1	P17927	p.Cys1321Ter	rs750654400	stop gained	-	NC_000001.11:g.207584659T>A	ExAC,gnomAD
CR1	P17927	p.Pro1322Gln	rs756168060	missense variant	-	NC_000001.11:g.207584661C>A	ExAC,gnomAD
CR1	P17927	p.Pro1322Ser	rs1378690568	missense variant	-	NC_000001.11:g.207584660C>T	gnomAD
CR1	P17927	p.Pro1322Thr	rs1378690568	missense variant	-	NC_000001.11:g.207584660C>A	gnomAD
CR1	P17927	p.Ala1326Ser	rs1387510234	missense variant	-	NC_000001.11:g.207584672G>T	gnomAD
CR1	P17927	p.Ile1327Thr	rs1297147019	missense variant	-	NC_000001.11:g.207584676T>C	gnomAD
CR1	P17927	p.Ile1327Leu	rs753917143	missense variant	-	NC_000001.11:g.207584675A>C	ExAC,gnomAD
CR1	P17927	p.Arg1331Lys	rs1406213894	missense variant	-	NC_000001.11:g.207584688G>A	gnomAD
CR1	P17927	p.His1332Tyr	rs779307539	missense variant	-	NC_000001.11:g.207584690C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1333Lys	rs772363143	missense variant	-	NC_000001.11:g.207584694C>A	ExAC,gnomAD
CR1	P17927	p.Thr1333Ala	rs748505080	missense variant	-	NC_000001.11:g.207584693A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1335Asn	rs777457095	missense variant	-	NC_000001.11:g.207584700C>A	ExAC,gnomAD
CR1	P17927	p.Pro1336Leu	rs746715976	missense variant	-	NC_000001.11:g.207584703C>T	ExAC,gnomAD
CR1	P17927	p.Pro1336Ala	rs1354101840	missense variant	-	NC_000001.11:g.207584702C>G	gnomAD
CR1	P17927	p.Asp1339Glu	rs1285555817	missense variant	-	NC_000001.11:g.207584713T>A	gnomAD
CR1	P17927	p.Pro1341Arg	rs776215792	missense variant	-	NC_000001.11:g.207584718C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1341Ser	rs770561633	missense variant	-	NC_000001.11:g.207584717C>T	ExAC,gnomAD
CR1	P17927	p.Pro1341Leu	rs776215792	missense variant	-	NC_000001.11:g.207584718C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr1342Ser	rs752282568	missense variant	-	NC_000001.11:g.207584721A>C	TOPMed,gnomAD
CR1	P17927	p.Gly1343Ala	rs759130591	missense variant	-	NC_000001.11:g.207584724G>C	ExAC,gnomAD
CR1	P17927	p.Ile1346Val	rs1341724706	missense variant	-	NC_000001.11:g.207584732A>G	TOPMed
CR1	P17927	p.Ser1347Thr	rs769723094	missense variant	-	NC_000001.11:g.207584735T>A	ExAC,gnomAD
CR1	P17927	p.Tyr1348Ser	rs1440675443	missense variant	-	NC_000001.11:g.207584739A>C	gnomAD
CR1	P17927	p.Thr1349Ile	rs1358225488	missense variant	-	NC_000001.11:g.207584742C>T	gnomAD
CR1	P17927	p.Cys1350Ser	rs1312864919	missense variant	-	NC_000001.11:g.207584744T>A	TOPMed
CR1	P17927	p.Asp1351Glu	rs938044503	missense variant	-	NC_000001.11:g.207584749C>A	TOPMed,gnomAD
CR1	P17927	p.Pro1352Ser	rs915609384	missense variant	-	NC_000001.11:g.207584750C>T	-
CR1	P17927	p.Gly1357Trp	rs762783325	missense variant	-	NC_000001.11:g.207584765G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1357Arg	rs762783325	missense variant	-	NC_000001.11:g.207584765G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1359Asn	rs541225690	missense variant	-	NC_000001.11:g.207584772C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1361Lys	rs1377622516	missense variant	-	NC_000001.11:g.207584779C>A	gnomAD
CR1	P17927	p.Leu1362Ile	rs1239127035	missense variant	-	NC_000001.11:g.207584780C>A	gnomAD
CR1	P17927	p.Ile1363Ser	rs199598381	missense variant	-	NC_000001.11:g.207584784T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1363Thr	rs199598381	missense variant	-	NC_000001.11:g.207584784T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1363Val	rs766599172	missense variant	-	NC_000001.11:g.207584783A>G	ExAC,gnomAD
CR1	P17927	p.Ile1368Thr	rs1459694440	missense variant	-	NC_000001.11:g.207584799T>C	TOPMed
CR1	P17927	p.Arg1369Cys	rs753192761	missense variant	-	NC_000001.11:g.207584801C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1369His	rs758774471	missense variant	-	NC_000001.11:g.207584802G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1370Tyr	rs1260973761	missense variant	-	NC_000001.11:g.207584805G>A	TOPMed
CR1	P17927	p.Cys1370Arg	rs778066743	missense variant	-	NC_000001.11:g.207584804T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1374Leu	rs747384502	missense variant	-	NC_000001.11:g.207584817C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.His1375Arg	rs998252826	missense variant	-	NC_000001.11:g.207584820A>G	gnomAD
CR1	P17927	p.Gly1378Ala	rs781014972	missense variant	-	NC_000001.11:g.207584829G>C	ExAC,TOPMed
CR1	P17927	p.Gly1378Arg	rs1367555644	missense variant	-	NC_000001.11:g.207584828G>A	gnomAD
CR1	P17927	p.Val1379Ile	rs372603184	missense variant	-	NC_000001.11:g.207584831G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1381Arg	rs769231887	missense variant	-	NC_000001.11:g.207584839C>A	ExAC,gnomAD
CR1	P17927	p.Ser1382Asn	rs574578676	missense variant	-	NC_000001.11:g.207584841G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1386His	rs180889860	missense variant	-	NC_000001.11:g.207584853G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1386Leu	rs180889860	missense variant	-	NC_000001.11:g.207584853G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1386Cys	rs762859978	missense variant	-	NC_000001.11:g.207584852C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1386Ser	rs762859978	missense variant	-	NC_000001.11:g.207584852C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1389Pro	rs1217503383	missense variant	-	NC_000001.11:g.207584862T>C	TOPMed
CR1	P17927	p.Arg1392Leu	rs200621891	missense variant	-	NC_000001.11:g.207584871G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1392His	rs200621891	missense variant	-	NC_000001.11:g.207584871G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1392Cys	rs766544117	missense variant	-	NC_000001.11:g.207584870C>T	ExAC,gnomAD
CR1	P17927	p.Glu1400Lys	rs1222143870	missense variant	-	NC_000001.11:g.207587403G>A	TOPMed
CR1	P17927	p.Pro1403Thr	rs1041763191	missense variant	-	NC_000001.11:g.207587412C>A	TOPMed
CR1	P17927	p.Ser1406Arg	rs1357145728	missense variant	-	NC_000001.11:g.207587421A>C	TOPMed,gnomAD
CR1	P17927	p.Thr1408Ala	rs61734514	missense variant	-	NC_000001.11:g.207587427A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1408Ser	rs61734514	missense variant	-	NC_000001.11:g.207587427A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1408Met	rs3737002	missense variant	-	NC_000001.11:g.207587428C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1408Met	rs3737002	missense variant	-	NC_000001.11:g.207587428C>T	UniProt,dbSNP
CR1	P17927	p.Thr1408Met	VAR_020263	missense variant	-	NC_000001.11:g.207587428C>T	UniProt
CR1	P17927	p.Thr1408Ile	VAR_013820	Missense	-	-	UniProt
CR1	P17927	p.Ile1409Val	rs771849735	missense variant	-	NC_000001.11:g.207587430A>G	ExAC,gnomAD
CR1	P17927	p.Ile1411Val	rs772924634	missense variant	-	NC_000001.11:g.207587436A>G	ExAC,gnomAD
CR1	P17927	p.Phe1414Val	rs746835144	missense variant	-	NC_000001.11:g.207587445T>G	ExAC,gnomAD
CR1	P17927	p.Phe1416Leu	rs1398437815	missense variant	-	NC_000001.11:g.207587453T>G	TOPMed
CR1	P17927	p.Gly1419Arg	rs191896925	missense variant	-	NC_000001.11:g.207587460G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1420Lys	rs764321659	missense variant	-	NC_000001.11:g.207587464C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1420Ile	rs764321659	missense variant	-	NC_000001.11:g.207587464C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1425Asp	rs1473208393	missense variant	-	NC_000001.11:g.207587480A>T	TOPMed
CR1	P17927	p.Cys1426Tyr	rs376393868	missense variant	-	NC_000001.11:g.207587482G>A	ESP,ExAC,gnomAD
CR1	P17927	p.Arg1427His	rs373049995	missense variant	-	NC_000001.11:g.207587485G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1427Cys	rs371604171	missense variant	-	NC_000001.11:g.207587484C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1428Ser	rs377376915	missense variant	-	NC_000001.11:g.207587487C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1428Ala	rs377376915	missense variant	-	NC_000001.11:g.207587487C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1431Ser	rs754470032	missense variant	-	NC_000001.11:g.207587497T>C	ExAC,gnomAD
CR1	P17927	p.Met1434Ile	rs140566582	missense variant	-	NC_000001.11:g.207587507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1434Thr	rs1296600917	missense variant	-	NC_000001.11:g.207587506T>C	gnomAD
CR1	P17927	p.Phe1435Leu	rs758273020	missense variant	-	NC_000001.11:g.207587508T>C	ExAC,gnomAD
CR1	P17927	p.Ile1437Val	rs375303129	missense variant	-	NC_000001.11:g.207587514A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1437Ser	rs1334108927	missense variant	-	NC_000001.11:g.207587515T>G	TOPMed
CR1	P17927	p.Ser1438Pro	rs746742487	missense variant	-	NC_000001.11:g.207587517T>C	ExAC,gnomAD
CR1	P17927	p.Ser1438Phe	rs760533167	missense variant	-	NC_000001.11:g.207587518C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1442Tyr	rs780119469	missense variant	-	NC_000001.11:g.207587529A>T	ExAC,gnomAD
CR1	P17927	p.Val1444Leu	rs1379691879	missense variant	-	NC_000001.11:g.207587535G>C	TOPMed
CR1	P17927	p.Trp1445Ter	rs1237422285	stop gained	-	NC_000001.11:g.207587540G>A	gnomAD
CR1	P17927	p.Glu1449Gly	rs768856371	missense variant	-	NC_000001.11:g.207587551A>G	ExAC,gnomAD
CR1	P17927	p.Asp1450Glu	rs774509906	missense variant	-	NC_000001.11:g.207587555C>G	ExAC,gnomAD
CR1	P17927	p.Arg1454Ter	rs772663179	stop gained	-	NC_000001.11:g.207587565C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1456Pro	rs1415681711	missense variant	-	NC_000001.11:g.207588680T>C	gnomAD
CR1	P17927	p.Gly1458Glu	rs764830223	missense variant	-	NC_000001.11:g.207588687G>A	ExAC,gnomAD
CR1	P17927	p.Pro1461Ser	rs994545485	missense variant	-	NC_000001.11:g.207588695C>T	TOPMed
CR1	P17927	p.Asn1465Ser	rs775164766	missense variant	-	NC_000001.11:g.207588708A>G	ExAC,gnomAD
CR1	P17927	p.Gly1466Arg	rs763721189	missense variant	-	NC_000001.11:g.207588710G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1467Ile	rs751449981	missense variant	-	NC_000001.11:g.207588715G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1467Ile	rs751449981	missense variant	-	NC_000001.11:g.207588715G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1468Leu	rs764234936	missense variant	-	NC_000001.11:g.207588716G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1468Met	rs764234936	missense variant	-	NC_000001.11:g.207588716G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1470Val	rs374969058	missense variant	-	NC_000001.11:g.207588722A>G	ESP,TOPMed,gnomAD
CR1	P17927	p.Asn1471Ile	rs750199221	missense variant	-	NC_000001.11:g.207588726A>T	ExAC,gnomAD
CR1	P17927	p.Gln1475Ter	rs756008385	stop gained	-	NC_000001.11:g.207588737C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1479Ile	rs200076672	missense variant	-	NC_000001.11:g.207588750C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1480Ile	rs1201946731	missense variant	-	NC_000001.11:g.207588752G>A	TOPMed,gnomAD
CR1	P17927	p.Asn1481Ser	rs1278996767	missense variant	-	NC_000001.11:g.207588756A>G	gnomAD
CR1	P17927	p.Gly1487Val	rs1451376441	missense variant	-	NC_000001.11:g.207588774G>T	TOPMed
CR1	P17927	p.Arg1489Ter	rs778591697	stop gained	-	NC_000001.11:g.207607255C>T	ExAC,gnomAD
CR1	P17927	p.Arg1489Leu	rs568081345	missense variant	-	NC_000001.11:g.207607256G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1489Gln	rs568081345	missense variant	-	NC_000001.11:g.207607256G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1492Val	rs1477895048	missense variant	-	NC_000001.11:g.207607265G>T	gnomAD
CR1	P17927	p.Thr1497Ile	rs746434908	missense variant	-	NC_000001.11:g.207607280C>T	ExAC,gnomAD
CR1	P17927	p.Leu1499Phe	rs770142826	missense variant	-	NC_000001.11:g.207607285C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1499Ile	rs770142826	missense variant	-	NC_000001.11:g.207607285C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1500Ile	rs749631959	missense variant	-	NC_000001.11:g.207607288G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1500Phe	rs749631959	missense variant	-	NC_000001.11:g.207607288G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1503Ser	rs773911565	missense variant	-	NC_000001.11:g.207607298A>G	ExAC,gnomAD
CR1	P17927	p.Val1505Ile	rs1231788014	missense variant	-	NC_000001.11:g.207607303G>A	gnomAD
CR1	P17927	p.Lys1510Ter	rs1311272096	stop gained	-	NC_000001.11:g.207607318A>T	gnomAD
CR1	P17927	p.Ala1511Pro	rs761361183	missense variant	-	NC_000001.11:g.207607321G>C	ExAC,gnomAD
CR1	P17927	p.Pro1512Thr	rs771537444	missense variant	-	NC_000001.11:g.207607324C>A	ExAC,gnomAD
CR1	P17927	p.Ile1513Thr	rs773275472	missense variant	-	NC_000001.11:g.207607328T>C	ExAC,gnomAD
CR1	P17927	p.Ile1517Val	rs772788078	missense variant	-	NC_000001.11:g.207609292A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1517Leu	rs772788078	missense variant	-	NC_000001.11:g.207609292A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1518Tyr	rs1034658211	missense variant	-	NC_000001.11:g.207609296C>A	TOPMed,gnomAD
CR1	P17927	p.Ser1518Pro	rs1458471535	missense variant	-	NC_000001.11:g.207609295T>C	gnomAD
CR1	P17927	p.Pro1522Leu	rs375894322	missense variant	-	NC_000001.11:g.207609308C>T	ESP,TOPMed
CR1	P17927	p.Pro1523Leu	rs1247963049	missense variant	-	NC_000001.11:g.207609311C>T	gnomAD
CR1	P17927	p.Ile1525Thr	rs1165042935	missense variant	-	NC_000001.11:g.207609317T>C	TOPMed,gnomAD
CR1	P17927	p.Ile1525Val	rs760282783	missense variant	-	NC_000001.11:g.207609316A>G	ExAC,gnomAD
CR1	P17927	p.Ser1526Tyr	rs117571325	missense variant	-	NC_000001.11:g.207609320C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1526Pro	rs1184699500	missense variant	-	NC_000001.11:g.207609319T>C	TOPMed
CR1	P17927	p.Asn1527Ser	rs776473566	missense variant	-	NC_000001.11:g.207609323A>G	ExAC,gnomAD
CR1	P17927	p.Ser1532Gly	rs189863730	missense variant	-	NC_000001.11:g.207609337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1534Ser	rs765001077	missense variant	-	NC_000001.11:g.207609344A>G	ExAC,gnomAD
CR1	P17927	p.Asn1534Tyr	rs1273830420	missense variant	-	NC_000001.11:g.207609343A>T	gnomAD
CR1	P17927	p.Asn1540Ser	rs17259045	missense variant	-	NC_000001.11:g.207609362A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1541Ter	rs1263915207	stop gained	-	NC_000001.11:g.207609364G>T	TOPMed
CR1	P17927	p.Gly1541Glu	rs750458018	missense variant	-	NC_000001.11:g.207609365G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1542Met	rs376660723	missense variant	-	NC_000001.11:g.207609368C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1547Lys	rs1204262968	missense variant	-	NC_000001.11:g.207609382C>A	gnomAD
CR1	P17927	p.Cys1548Ter	rs755362456	stop gained	-	NC_000001.11:g.207609387C>A	ExAC,gnomAD
CR1	P17927	p.Thr1550Ile	rs779078224	missense variant	-	NC_000001.11:g.207609392C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1551Ala	rs1182031602	missense variant	-	NC_000001.11:g.207609395G>C	TOPMed,gnomAD
CR1	P17927	p.Pro1552Ser	rs1256403834	missense variant	-	NC_000001.11:g.207609397C>T	gnomAD
CR1	P17927	p.Pro1552Arg	rs370954317	missense variant	-	NC_000001.11:g.207609398C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1552Gln	rs370954317	missense variant	-	NC_000001.11:g.207609398C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1553Glu	rs899715184	missense variant	-	NC_000001.11:g.207609402T>G	TOPMed,gnomAD
CR1	P17927	p.Gly1554Arg	rs907980596	missense variant	-	NC_000001.11:g.207609403G>A	TOPMed,gnomAD
CR1	P17927	p.Glu1555Lys	rs374281717	missense variant	-	NC_000001.11:g.207609406G>A	ESP,ExAC,gnomAD
CR1	P17927	p.Gln1556His	rs746487023	missense variant	-	NC_000001.11:g.207609411G>C	ExAC,gnomAD
CR1	P17927	p.Leu1560Pro	rs1360636024	missense variant	-	NC_000001.11:g.207609422T>C	gnomAD
CR1	P17927	p.Val1561Met	rs41274768	missense variant	-	NC_000001.11:g.207609424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1564Gln	rs200742776	missense variant	-	NC_000001.11:g.207609434G>A	TOPMed,gnomAD
CR1	P17927	p.Arg1564Trp	rs370698774	missense variant	-	NC_000001.11:g.207609433C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1566Met	rs1341215006	missense variant	-	NC_000001.11:g.207609441A>G	gnomAD
CR1	P17927	p.Tyr1567His	rs1165035355	missense variant	-	NC_000001.11:g.207609442T>C	TOPMed,gnomAD
CR1	P17927	p.Thr1569Pro	rs762762588	missense variant	-	NC_000001.11:g.207609448A>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1570Arg	rs767690665	missense variant	-	NC_000001.11:g.207609453C>A	ExAC,gnomAD
CR1	P17927	p.Ser1570Thr	rs1314265094	missense variant	-	NC_000001.11:g.207609452G>C	gnomAD
CR1	P17927	p.Ser1570Cys	rs1265485196	missense variant	-	NC_000001.11:g.207609451A>T	TOPMed
CR1	P17927	p.Lys1571Arg	rs575862611	missense variant	-	NC_000001.11:g.207609455A>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Asp1572Asn	rs1393043876	missense variant	-	NC_000001.11:g.207609457G>A	gnomAD
CR1	P17927	p.Asp1573Gly	rs760727043	missense variant	-	NC_000001.11:g.207609461A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1574Ter	rs766431816	stop gained	-	NC_000001.11:g.207609463C>T	ExAC,gnomAD
CR1	P17927	p.Val1575Ala	rs1257486895	missense variant	-	NC_000001.11:g.207609467T>C	TOPMed
CR1	P17927	p.Trp1578Ter	rs1216947356	stop gained	-	NC_000001.11:g.207609477G>A	TOPMed
CR1	P17927	p.Pro1581Ser	rs753954835	missense variant	-	NC_000001.11:g.207609484C>T	ExAC,gnomAD
CR1	P17927	p.Pro1581Arg	rs374732257	missense variant	-	NC_000001.11:g.207609485C>G	ESP,TOPMed
CR1	P17927	p.Pro1582Ser	rs947565628	missense variant	-	NC_000001.11:g.207609487C>T	gnomAD
CR1	P17927	p.Pro1583Thr	rs769058005	missense variant	-	NC_000001.11:g.207609490C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1583Arg	rs544740223	missense variant	-	NC_000001.11:g.207609491C>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1583Leu	rs544740223	missense variant	-	NC_000001.11:g.207609491C>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1583His	rs544740223	missense variant	-	NC_000001.11:g.207609491C>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1583Ser	rs769058005	missense variant	-	NC_000001.11:g.207609490C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1584Leu	rs370975278	missense variant	-	NC_000001.11:g.207609494G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1584Gln	rs370975278	missense variant	-	NC_000001.11:g.207609494G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1584Trp	rs746717987	missense variant	-	NC_000001.11:g.207609493C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1588Ala	rs1433020893	missense variant	-	NC_000001.11:g.207609505A>G	gnomAD
CR1	P17927	p.Lys1590Glu	rs17047660	missense variant	-	NC_000001.11:g.207609511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1595Asp	rs533388914	missense variant	-	NC_000001.11:g.207609528A>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1595Lys	rs1287596712	missense variant	-	NC_000001.11:g.207609526G>A	gnomAD
CR1	P17927	p.Val1596Phe	rs1220161506	missense variant	-	NC_000001.11:g.207609529G>T	gnomAD
CR1	P17927	p.Val1596Ala	rs769571841	missense variant	-	NC_000001.11:g.207609530T>C	ExAC,gnomAD
CR1	P17927	p.Asn1598Ser	rs1346190010	missense variant	-	NC_000001.11:g.207609536A>G	gnomAD
CR1	P17927	p.Ala1599Gly	rs1270011121	missense variant	-	NC_000001.11:g.207609539C>G	gnomAD
CR1	P17927	p.Ile1600Thr	rs371865023	missense variant	-	NC_000001.11:g.207609542T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1600Val	rs917368537	missense variant	-	NC_000001.11:g.207609541A>G	TOPMed,gnomAD
CR1	P17927	p.Arg1601Gly	rs17047661	missense variant	-	NC_000001.11:g.207609544A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1601Thr	rs1248372125	missense variant	-	NC_000001.11:g.207609545G>C	gnomAD
CR1	P17927	p.Gly1604Ala	rs773415681	missense variant	-	NC_000001.11:g.207609554G>C	ExAC,gnomAD
CR1	P17927	p.Asn1605Asp	rs1250844597	missense variant	-	NC_000001.11:g.207609556A>G	gnomAD
CR1	P17927	p.Arg1606Ser	rs560078703	missense variant	-	NC_000001.11:g.207609561G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1606Lys	rs1237809573	missense variant	-	NC_000001.11:g.207609560G>A	TOPMed
CR1	P17927	p.Ser1607Gly	rs367926730	missense variant	-	NC_000001.11:g.207609562A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1610Asn	rs759691846	missense variant	-	NC_000001.11:g.207609572C>A	ExAC,gnomAD
CR1	P17927	p.Thr1610Ser	rs4844609	missense variant	-	NC_000001.11:g.207609571A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1610Thr	rs4844609	missense variant	-	NC_000001.11:g.207609571A>T	UniProt,dbSNP
CR1	P17927	p.Ser1610Thr	VAR_013823	missense variant	-	NC_000001.11:g.207609571A>T	UniProt
CR1	P17927	p.Ser1610Thr	VAR_013823	Missense	-	-	UniProt
CR1	P17927	p.Thr1612Ser	rs753306326	missense variant	-	NC_000001.11:g.207609578C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1612Ile	rs753306326	missense variant	-	NC_000001.11:g.207609578C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1613Val	rs1344284047	missense variant	-	NC_000001.11:g.207609581A>T	TOPMed
CR1	P17927	p.Ile1614Thr	rs764620269	missense variant	-	NC_000001.11:g.207609584T>C	ExAC,gnomAD
CR1	P17927	p.Ile1615Val	rs6691117	missense variant	-	NC_000001.11:g.207609586A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1615Val	rs6691117	missense variant	-	NC_000001.11:g.207609586A>G	UniProt,dbSNP
CR1	P17927	p.Ile1615Val	VAR_013824	missense variant	-	NC_000001.11:g.207609586A>G	UniProt
CR1	P17927	p.Arg1616Lys	rs369185924	missense variant	-	NC_000001.11:g.207609590G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1617Leu	rs745333008	missense variant	-	NC_000001.11:g.207609594T>G	ExAC,gnomAD
CR1	P17927	p.Pro1621Leu	rs1212938694	missense variant	-	NC_000001.11:g.207609605C>T	gnomAD
CR1	P17927	p.Gly1622Val	rs180783183	missense variant	-	NC_000001.11:g.207609608G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly1622Arg	rs768582642	missense variant	-	NC_000001.11:g.207609607G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1622Arg	rs768582642	missense variant	-	NC_000001.11:g.207609607G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1625Leu	rs1469875213	missense variant	-	NC_000001.11:g.207609616A>C	gnomAD
CR1	P17927	p.Val1626Gly	rs921199166	missense variant	-	NC_000001.11:g.207609620T>G	TOPMed
CR1	P17927	p.Gly1627Arg	rs769853928	missense variant	-	NC_000001.11:g.207609622G>A	ExAC,gnomAD
CR1	P17927	p.Gly1627Val	rs914840013	missense variant	-	NC_000001.11:g.207609623G>T	TOPMed,gnomAD
CR1	P17927	p.Gly1627Glu	rs914840013	missense variant	-	NC_000001.11:g.207609623G>A	TOPMed,gnomAD
CR1	P17927	p.His1629Asn	rs1164800111	missense variant	-	NC_000001.11:g.207609628C>A	gnomAD
CR1	P17927	p.Thr1630Ile	rs1467500596	missense variant	-	NC_000001.11:g.207609632C>T	gnomAD
CR1	P17927	p.Thr1630Ala	rs776145460	missense variant	-	NC_000001.11:g.207609631A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1631Met	rs1330051836	missense variant	-	NC_000001.11:g.207609634G>A	TOPMed,gnomAD
CR1	P17927	p.Cys1633Trp	rs1473975413	missense variant	-	NC_000001.11:g.207609642C>G	gnomAD
CR1	P17927	p.Asn1636Lys	rs533857968	missense variant	-	NC_000001.11:g.207609651T>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1636Ser	rs371538818	missense variant	-	NC_000001.11:g.207609650A>G	1000Genomes,ESP,ExAC,gnomAD
CR1	P17927	p.Gly1637Asp	rs555635198	missense variant	-	NC_000001.11:g.207609653G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp1639Cys	rs1232192451	missense variant	-	NC_000001.11:g.207609660G>C	gnomAD
CR1	P17927	p.Pro1641Leu	rs1209582751	missense variant	-	NC_000001.11:g.207609665C>T	TOPMed
CR1	P17927	p.Pro1641Thr	rs1319989653	missense variant	-	NC_000001.11:g.207609664C>A	gnomAD
CR1	P17927	p.Pro1641Ser	rs1319989653	missense variant	-	NC_000001.11:g.207609664C>T	gnomAD
CR1	P17927	p.Leu1643Val	rs201017229	missense variant	-	NC_000001.11:g.207609670C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.His1645Gln	rs1202650226	missense variant	-	NC_000001.11:g.207609678C>G	gnomAD
CR1	P17927	p.His1645Arg	rs1435892908	missense variant	-	NC_000001.11:g.207609677A>G	gnomAD
CR1	P17927	p.Ser1647Phe	rs753337004	missense variant	-	NC_000001.11:g.207609683C>T	ExAC,gnomAD
CR1	P17927	p.Val1649Ala	rs541247689	missense variant	-	NC_000001.11:g.207611677T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1649Met	rs1201913115	missense variant	-	NC_000001.11:g.207609688G>A	TOPMed
CR1	P17927	p.Cys1650Tyr	rs752622979	missense variant	-	NC_000001.11:g.207611680G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1652Leu	rs561028518	missense variant	-	NC_000001.11:g.207611686C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1654Ser	rs746766655	missense variant	-	NC_000001.11:g.207611691C>T	ExAC,gnomAD
CR1	P17927	p.Glu1655Asp	rs1353446182	missense variant	-	NC_000001.11:g.207611696A>T	TOPMed
CR1	P17927	p.His1658Tyr	rs756406372	missense variant	-	NC_000001.11:g.207611703C>T	ExAC,gnomAD
CR1	P17927	p.Gly1659Ser	rs369023282	missense variant	-	NC_000001.11:g.207611706G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1661Arg	rs749407317	missense variant	-	NC_000001.11:g.207611713A>G	ExAC,gnomAD
CR1	P17927	p.Thr1662Ile	rs1205844405	missense variant	-	NC_000001.11:g.207611716C>T	gnomAD
CR1	P17927	p.Leu1663Pro	rs1261623331	missense variant	-	NC_000001.11:g.207611719T>C	gnomAD
CR1	P17927	p.Gln1666Ter	rs986157698	stop gained	-	NC_000001.11:g.207611727C>T	TOPMed
CR1	P17927	p.Gln1666Glu	rs986157698	missense variant	-	NC_000001.11:g.207611727C>G	TOPMed
CR1	P17927	p.Asn1668Lys	rs748760719	missense variant	-	NC_000001.11:g.207611735C>A	ExAC,gnomAD
CR1	P17927	p.Phe1669Ser	rs772448550	missense variant	-	NC_000001.11:g.207611737T>C	ExAC,gnomAD
CR1	P17927	p.Gly1672Glu	rs373376403	missense variant	-	NC_000001.11:g.207611746G>A	ESP,TOPMed,gnomAD
CR1	P17927	p.Gly1672Ala	rs373376403	missense variant	-	NC_000001.11:g.207611746G>C	ESP,TOPMed,gnomAD
CR1	P17927	p.Gln1673Arg	rs924076464	missense variant	-	NC_000001.11:g.207611749A>G	TOPMed
CR1	P17927	p.Glu1674Lys	rs760919810	missense variant	-	NC_000001.11:g.207611751G>A	ExAC,gnomAD
CR1	P17927	p.Val1675Leu	rs202148801	missense variant	-	NC_000001.11:g.207611754G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1675Leu	rs202148801	missense variant	-	NC_000001.11:g.207611754G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1679Ser	rs759061317	missense variant	-	NC_000001.11:g.207611767G>C	ExAC,gnomAD
CR1	P17927	p.Ser1682Gly	rs1438489971	missense variant	-	NC_000001.11:g.207611775A>G	gnomAD
CR1	P17927	p.Tyr1683Cys	rs1337815492	missense variant	-	NC_000001.11:g.207611779A>G	gnomAD
CR1	P17927	p.Asp1684Tyr	rs752143975	missense variant	-	NC_000001.11:g.207611781G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1684Gly	rs563184105	missense variant	-	NC_000001.11:g.207611782A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1687Glu	rs751408730	missense variant	-	NC_000001.11:g.207611791G>A	ExAC,gnomAD
CR1	P17927	p.Gly1687Arg	rs948071511	missense variant	-	NC_000001.11:g.207611790G>C	TOPMed
CR1	P17927	p.Ala1689Val	rs757075631	missense variant	-	NC_000001.11:g.207611797C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1689Thr	rs767319586	missense variant	-	NC_000001.11:g.207611796G>A	gnomAD
CR1	P17927	p.Ser1690Phe	rs780442691	missense variant	-	NC_000001.11:g.207611800C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1690Cys	rs780442691	missense variant	-	NC_000001.11:g.207611800C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1693Arg	rs779111590	missense variant	-	NC_000001.11:g.207611808T>C	ExAC,gnomAD
CR1	P17927	p.Cys1693Trp	rs1459023366	missense variant	-	NC_000001.11:g.207611810C>G	gnomAD
CR1	P17927	p.Thr1694Met	rs370389622	missense variant	-	NC_000001.11:g.207611812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1695Leu	rs773555762	missense variant	-	NC_000001.11:g.207611815C>T	ExAC,gnomAD
CR1	P17927	p.Gln1696Arg	rs1392117583	missense variant	-	NC_000001.11:g.207611818A>G	TOPMed,gnomAD
CR1	P17927	p.Gln1696Ter	rs1373788325	stop gained	-	NC_000001.11:g.207611817C>T	gnomAD
CR1	P17927	p.Gln1696His	rs551820345	missense variant	-	NC_000001.11:g.207611819G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1698Gly	rs1420240087	missense variant	-	NC_000001.11:g.207611824A>G	gnomAD
CR1	P17927	p.Trp1699Arg	rs1334013193	missense variant	-	NC_000001.11:g.207611826T>A	gnomAD
CR1	P17927	p.Ser1700Asn	rs771230144	missense variant	-	NC_000001.11:g.207611830G>A	ExAC,gnomAD
CR1	P17927	p.Ser1700Arg	rs879142327	missense variant	-	NC_000001.11:g.207611831C>A	gnomAD
CR1	P17927	p.Glu1702Lys	rs776271756	missense variant	-	NC_000001.11:g.207611835G>A	ExAC,gnomAD
CR1	P17927	p.Ala1703Val	rs759251578	missense variant	-	NC_000001.11:g.207611839C>T	ExAC,gnomAD
CR1	P17927	p.Arg1705Thr	rs1229306455	missense variant	-	NC_000001.11:g.207611845G>C	TOPMed
CR1	P17927	p.Cys1706Ser	rs1248026591	missense variant	-	NC_000001.11:g.207611847T>A	TOPMed,gnomAD
CR1	P17927	p.Cys1706Arg	rs1248026591	missense variant	-	NC_000001.11:g.207611847T>C	TOPMed,gnomAD
CR1	P17927	p.Ser1710Pro	rs1307235096	missense variant	-	NC_000001.11:g.207611944T>C	TOPMed
CR1	P17927	p.Ser1710Tyr	rs1436756688	missense variant	-	NC_000001.11:g.207611945C>A	gnomAD
CR1	P17927	p.Cys1711Arg	rs1271346895	missense variant	-	NC_000001.11:g.207611947T>C	TOPMed
CR1	P17927	p.Asp1712Val	rs781594483	missense variant	-	NC_000001.11:g.207611951A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1713Asn	rs1343228666	missense variant	-	NC_000001.11:g.207611953G>A	TOPMed
CR1	P17927	p.Phe1714Leu	rs1375084004	missense variant	-	NC_000001.11:g.207611956T>C	gnomAD
CR1	P17927	p.Leu1715Val	rs1413106257	missense variant	-	NC_000001.11:g.207611959C>G	gnomAD
CR1	P17927	p.Gln1717Ter	rs1363341014	stop gained	-	NC_000001.11:g.207611965C>T	gnomAD
CR1	P17927	p.Gln1717His	rs148593452	missense variant	-	NC_000001.11:g.207611967A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1718Val	rs369825592	missense variant	-	NC_000001.11:g.207611968C>G	ExAC,gnomAD
CR1	P17927	p.Leu1718Ile	rs369825592	missense variant	-	NC_000001.11:g.207611968C>A	ExAC,gnomAD
CR1	P17927	p.Pro1719Thr	rs774346056	missense variant	-	NC_000001.11:g.207611971C>A	ExAC,gnomAD
CR1	P17927	p.Gly1721Val	rs374085005	missense variant	-	NC_000001.11:g.207611978G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly1721Asp	rs374085005	missense variant	-	NC_000001.11:g.207611978G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1722Cys	rs767544074	missense variant	-	NC_000001.11:g.207611980C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1722His	rs142767986	missense variant	-	NC_000001.11:g.207611981G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1725Pro	rs1353646442	missense variant	-	NC_000001.11:g.207611990T>C	TOPMed
CR1	P17927	p.Leu1725Phe	rs765521072	missense variant	-	NC_000001.11:g.207611989C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1726Arg	rs374983587	missense variant	-	NC_000001.11:g.207611993C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1727Phe	rs1254595228	missense variant	-	NC_000001.11:g.207611995C>T	gnomAD
CR1	P17927	p.Asn1728His	rs1454572992	missense variant	-	NC_000001.11:g.207611998A>C	gnomAD
CR1	P17927	p.Leu1729Val	rs1174465464	missense variant	-	NC_000001.11:g.207612001C>G	gnomAD
CR1	P17927	p.Gln1730His	rs1412818503	missense variant	-	NC_000001.11:g.207612006G>T	gnomAD
CR1	P17927	p.Leu1731Val	rs201229255	missense variant	-	NC_000001.11:g.207612007C>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ala1733Thr	rs1453603748	missense variant	-	NC_000001.11:g.207612013G>A	gnomAD
CR1	P17927	p.Lys1734Asn	rs150619703	missense variant	-	NC_000001.11:g.207612018G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1734Asn	rs150619703	missense variant	-	NC_000001.11:g.207612018G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1735Met	rs200258218	missense variant	-	NC_000001.11:g.207612019G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1735Leu	rs200258218	missense variant	-	NC_000001.11:g.207612019G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1736Phe	rs779766301	missense variant	-	NC_000001.11:g.207612023C>T	ExAC
CR1	P17927	p.Phe1737Cys	rs768346217	missense variant	-	NC_000001.11:g.207612026T>G	ExAC,gnomAD
CR1	P17927	p.Val1738Ala	rs774059529	missense variant	-	NC_000001.11:g.207612029T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1739Ter	rs761380715	stop gained	-	NC_000001.11:g.207612033C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1740Asn	rs376980117	missense variant	-	NC_000001.11:g.207612034G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1741Lys	rs1275018662	missense variant	-	NC_000001.11:g.207612037G>A	TOPMed,gnomAD
CR1	P17927	p.Glu1741Asp	rs1468733502	missense variant	-	NC_000001.11:g.207612039A>C	gnomAD
CR1	P17927	p.Gly1742Arg	rs760560895	missense variant	-	NC_000001.11:g.207612040G>A	ExAC,gnomAD
CR1	P17927	p.Gly1742Glu	rs1480058142	missense variant	-	NC_000001.11:g.207612041G>A	gnomAD
CR1	P17927	p.Arg1744Ter	rs55749440	stop gained	-	NC_000001.11:g.207614408C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1744Gln	rs55704352	missense variant	-	NC_000001.11:g.207614409G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1744Leu	rs55704352	missense variant	-	NC_000001.11:g.207614409G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1746Ile	rs1196832040	missense variant	-	NC_000001.11:g.207614415A>T	TOPMed
CR1	P17927	p.Gly1747Asp	rs200692346	missense variant	-	NC_000001.11:g.207614418G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1749Pro	rs756633578	missense variant	-	NC_000001.11:g.207614423T>C	ExAC,gnomAD
CR1	P17927	p.Ser1751Arg	rs1291393992	missense variant	-	NC_000001.11:g.207614429A>C	gnomAD
CR1	P17927	p.His1752Arg	rs550889066	missense variant	-	NC_000001.11:g.207614433A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1754Ile	rs754189117	missense variant	-	NC_000001.11:g.207614438G>A	ExAC,gnomAD
CR1	P17927	p.Ala1756Pro	rs570636406	missense variant	-	NC_000001.11:g.207614444G>C	1000Genomes
CR1	P17927	p.Met1758Thr	rs61822976	missense variant	-	NC_000001.11:g.207614451T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1761Phe	rs1336919776	missense variant	-	NC_000001.11:g.207614459C>T	TOPMed
CR1	P17927	p.Trp1762Ter	rs1228805744	stop gained	-	NC_000001.11:g.207614464G>A	TOPMed
CR1	P17927	p.Asn1763Ser	rs1306489717	missense variant	-	NC_000001.11:g.207614466A>G	gnomAD
CR1	P17927	p.Ser1764Thr	rs1281844077	missense variant	-	NC_000001.11:g.207614469G>C	TOPMed
CR1	P17927	p.Ser1764Gly	rs758121969	missense variant	-	NC_000001.11:g.207614468A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1765Asn	rs1168924623	missense variant	-	NC_000001.11:g.207614472G>A	gnomAD
CR1	P17927	p.Pro1767Ala	rs1419253581	missense variant	-	NC_000001.11:g.207614477C>G	gnomAD
CR1	P17927	p.Val1768Met	rs1201840624	missense variant	-	NC_000001.11:g.207614480G>A	gnomAD
CR1	P17927	p.Val1768Ala	rs191751915	missense variant	-	NC_000001.11:g.207614481T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1770Ala	rs1346440746	missense variant	-	NC_000001.11:g.207614487A>C	TOPMed
CR1	P17927	p.Glu1770Ter	rs746506311	stop gained	-	NC_000001.11:g.207614486G>T	ExAC,gnomAD
CR1	P17927	p.Gln1771Ter	rs1375478918	stop gained	-	NC_000001.11:g.207614489C>T	TOPMed,gnomAD
CR1	P17927	p.Pro1775Ala	rs370898285	missense variant	-	NC_000001.11:g.207616586C>G	ESP,TOPMed
CR1	P17927	p.Pro1775Thr	rs370898285	missense variant	-	NC_000001.11:g.207616586C>A	ESP,TOPMed
CR1	P17927	p.Asn1776Asp	rs1420504165	missense variant	-	NC_000001.11:g.207616589A>G	TOPMed,gnomAD
CR1	P17927	p.Pro1777Thr	rs544812366	missense variant	-	NC_000001.11:g.207616592C>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1777Leu	rs781003292	missense variant	-	NC_000001.11:g.207616593C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1780Thr	rs745750052	missense variant	-	NC_000001.11:g.207616602T>C	ExAC,gnomAD
CR1	P17927	p.Leu1781Phe	rs779879645	missense variant	-	NC_000001.11:g.207616604C>T	ExAC,gnomAD
CR1	P17927	p.Gly1783Arg	rs749055778	missense variant	-	NC_000001.11:g.207616610G>A	ExAC,gnomAD
CR1	P17927	p.Arg1784Lys	rs879020751	missense variant	-	NC_000001.11:g.207616614G>A	gnomAD
CR1	P17927	p.Thr1786Ile	rs772317721	missense variant	-	NC_000001.11:g.207616620C>T	ExAC
CR1	P17927	p.Gly1787Glu	rs564952548	missense variant	-	NC_000001.11:g.207616623G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1788Pro	rs760688003	missense variant	-	NC_000001.11:g.207616625A>C	ExAC,gnomAD
CR1	P17927	p.Pro1789Ser	rs770979910	missense variant	-	NC_000001.11:g.207616628C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1790Ser	rs1239921010	missense variant	-	NC_000001.11:g.207616632T>C	TOPMed,gnomAD
CR1	P17927	p.Asp1792Gly	rs765817364	missense variant	-	NC_000001.11:g.207616638A>G	ExAC,gnomAD
CR1	P17927	p.Asp1792Tyr	rs760180458	missense variant	-	NC_000001.11:g.207616637G>T	ExAC,gnomAD
CR1	P17927	p.Gly1796Glu	rs267598342	missense variant	-	NC_000001.11:g.207616650G>A	-
CR1	P17927	p.Gly1796Ter	rs1028304802	stop gained	-	NC_000001.11:g.207616649G>T	TOPMed
CR1	P17927	p.Lys1797Glu	rs1216100541	missense variant	-	NC_000001.11:g.207616652A>G	gnomAD
CR1	P17927	p.Glu1798Gly	rs1488377812	missense variant	-	NC_000001.11:g.207616656A>G	gnomAD
CR1	P17927	p.Glu1798Asp	rs1207667858	missense variant	-	NC_000001.11:g.207616657A>C	gnomAD
CR1	P17927	p.Glu1798Ter	rs753153189	stop gained	-	NC_000001.11:g.207616655G>T	ExAC,gnomAD
CR1	P17927	p.Ile1799Met	rs1396738758	missense variant	-	NC_000001.11:g.207616660A>G	gnomAD
CR1	P17927	p.Ile1799Lys	rs763368712	missense variant	-	NC_000001.11:g.207616659T>A	ExAC,gnomAD
CR1	P17927	p.Ala1802Val	rs1409139939	missense variant	-	NC_000001.11:g.207616668C>T	gnomAD
CR1	P17927	p.Ala1802Thr	rs56270008	missense variant	-	NC_000001.11:g.207616667G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1802Pro	rs56270008	missense variant	-	NC_000001.11:g.207616667G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1804Asn	rs113247278	missense variant	-	NC_000001.11:g.207616673G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1808Asn	rs749107552	missense variant	-	NC_000001.11:g.207616685G>A	ExAC,gnomAD
CR1	P17927	p.Arg1809Lys	rs777865155	missense variant	-	NC_000001.11:g.207616689G>A	ExAC,gnomAD
CR1	P17927	p.Arg1809Gly	rs545861624	missense variant	-	NC_000001.11:g.207616688A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1810Ala	rs747326386	missense variant	-	NC_000001.11:g.207616692G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1812Ile	rs529566156	missense variant	-	NC_000001.11:g.207616698C>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Thr1812Ser	rs771046779	missense variant	-	NC_000001.11:g.207616697A>T	ExAC,gnomAD
CR1	P17927	p.Thr1812Asn	rs529566156	missense variant	-	NC_000001.11:g.207616698C>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Phe1813Ser	rs1235639319	missense variant	-	NC_000001.11:g.207616701T>C	gnomAD
CR1	P17927	p.Asn1814Thr	rs745913870	missense variant	-	NC_000001.11:g.207616704A>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1814Ser	rs745913870	missense variant	-	NC_000001.11:g.207616704A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1816Thr	rs770457031	missense variant	-	NC_000001.11:g.207616710T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1816Val	rs1321472936	missense variant	-	NC_000001.11:g.207616709A>G	TOPMed,gnomAD
CR1	P17927	p.Ile1816Phe	rs1321472936	missense variant	-	NC_000001.11:g.207616709A>T	TOPMed,gnomAD
CR1	P17927	p.Gly1817Ala	rs1339584812	missense variant	-	NC_000001.11:g.207616713G>C	TOPMed,gnomAD
CR1	P17927	p.Gly1817Arg	rs549640201	missense variant	-	NC_000001.11:g.207616712G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1818Ter	rs763422151	stop gained	-	NC_000001.11:g.207616715G>T	ExAC,gnomAD
CR1	P17927	p.Ser1819Ile	rs1434418184	missense variant	-	NC_000001.11:g.207616719G>T	TOPMed
CR1	P17927	p.Ser1820Thr	rs764452837	missense variant	-	NC_000001.11:g.207616721T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1821Thr	rs774574628	missense variant	-	NC_000001.11:g.207616725T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822His	rs767050487	missense variant	-	NC_000001.11:g.207616728G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822Cys	rs191714506	missense variant	-	NC_000001.11:g.207616727C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822Leu	rs767050487	missense variant	-	NC_000001.11:g.207616728G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1823Arg	rs749973253	missense variant	-	NC_000001.11:g.207616730T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1823Tyr	rs755578730	missense variant	-	NC_000001.11:g.207616731G>A	ExAC,gnomAD
CR1	P17927	p.Ser1825Ile	rs139596791	missense variant	-	NC_000001.11:g.207616737G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1825Asn	rs139596791	missense variant	-	NC_000001.11:g.207616737G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1826Asn	rs1168233897	missense variant	-	NC_000001.11:g.207616739G>A	gnomAD
CR1	P17927	p.Asp1826Glu	rs1368752419	missense variant	-	NC_000001.11:g.207616741C>A	TOPMed,gnomAD
CR1	P17927	p.Pro1827Arg	rs3811381	missense variant	-	NC_000001.11:g.207616743C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1827Ser	rs754871656	missense variant	-	NC_000001.11:g.207616742C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1827His	rs3811381	missense variant	-	NC_000001.11:g.207616743C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1828His	rs1379169872	missense variant	-	NC_000001.11:g.207616747A>T	TOPMed,gnomAD
CR1	P17927	p.Ala1837Ser	rs367714079	missense variant	-	NC_000001.11:g.207616772G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1838Ser	rs749876194	missense variant	-	NC_000001.11:g.207616775C>T	ExAC,gnomAD
CR1	P17927	p.Arg1839His	rs571422599	missense variant	-	NC_000001.11:g.207616779G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1839Cys	rs769027388	missense variant	-	NC_000001.11:g.207616778C>T	ExAC,gnomAD
CR1	P17927	p.Glu1841Ala	rs1188219151	missense variant	-	NC_000001.11:g.207616785A>C	gnomAD
CR1	P17927	p.Ala1847Pro	rs1400988835	missense variant	-	NC_000001.11:g.207616802G>C	TOPMed
CR1	P17927	p.His1850Asp	VAR_013826	Missense	-	-	UniProt
CR1	P17927	p.Pro1851Leu	rs372388379	missense variant	-	NC_000001.11:g.207618083C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1852Arg	rs779246269	missense variant	-	NC_000001.11:g.207618086C>G	ExAC,gnomAD
CR1	P17927	p.Lys1853Arg	rs41274770	missense variant	-	NC_000001.11:g.207618089A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1854Met	rs772261193	missense variant	-	NC_000001.11:g.207618093C>G	ExAC,gnomAD
CR1	P17927	p.Ile1860Val	rs760382005	missense variant	-	NC_000001.11:g.207618109A>G	ExAC,gnomAD
CR1	P17927	p.Gly1861Arg	rs989464561	missense variant	-	NC_000001.11:g.207618112G>A	TOPMed
CR1	P17927	p.Gly1861Glu	rs770551867	missense variant	-	NC_000001.11:g.207618113G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1862Glu	rs1161365397	missense variant	-	NC_000001.11:g.207618116G>A	TOPMed
CR1	P17927	p.Gly1862Arg	rs776158638	missense variant	-	NC_000001.11:g.207618115G>A	ExAC,gnomAD
CR1	P17927	p.His1863Arg	rs558883935	missense variant	-	NC_000001.11:g.207618119A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1863Leu	rs558883935	missense variant	-	NC_000001.11:g.207618119A>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1864Ile	rs752517997	missense variant	-	NC_000001.11:g.207618121G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1866Pro	rs1364850488	missense variant	-	NC_000001.11:g.207618128T>C	gnomAD
CR1	P17927	p.Tyr1867His	rs1209011751	missense variant	-	NC_000001.11:g.207618130T>C	TOPMed
CR1	P17927	p.Pro1869Thr	rs1307614547	missense variant	-	NC_000001.11:g.207618136C>A	TOPMed,gnomAD
CR1	P17927	p.Ile1873Thr	rs1287070602	missense variant	-	NC_000001.11:g.207618149T>C	TOPMed
CR1	P17927	p.Ile1873Val	rs764047591	missense variant	-	NC_000001.11:g.207618148A>G	ExAC,gnomAD
CR1	P17927	p.Ser1874Thr	rs751385312	missense variant	-	NC_000001.11:g.207618152G>C	ExAC,gnomAD
CR1	P17927	p.Ile1876Val	rs200990657	missense variant	-	NC_000001.11:g.207618157A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1876Ser	rs1428355347	missense variant	-	NC_000001.11:g.207618158T>G	gnomAD
CR1	P17927	p.Gly1880Ser	rs753979628	missense variant	-	NC_000001.11:g.207618169G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr1881Phe	rs754960603	missense variant	-	NC_000001.11:g.207618173A>T	ExAC,gnomAD
CR1	P17927	p.Tyr1881Cys	rs754960603	missense variant	-	NC_000001.11:g.207618173A>G	ExAC,gnomAD
CR1	P17927	p.Leu1882Pro	rs1298564813	missense variant	-	NC_000001.11:g.207618176T>C	TOPMed
CR1	P17927	p.Leu1882Val	rs374661608	missense variant	-	NC_000001.11:g.207618175C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1884Leu	rs1369074955	missense variant	-	NC_000001.11:g.207618181G>T	TOPMed
CR1	P17927	p.Gly1885Val	rs1325557606	missense variant	-	NC_000001.11:g.207618185G>T	TOPMed
CR1	P17927	p.Gly1887Asp	rs778163932	missense variant	-	NC_000001.11:g.207618191G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1887Ser	rs61730889	missense variant	-	NC_000001.11:g.207618190G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1891Arg	rs747344171	missense variant	-	NC_000001.11:g.207618202T>C	ExAC,gnomAD
CR1	P17927	p.Cys1891Ser	rs1322460871	missense variant	-	NC_000001.11:g.207618203G>C	TOPMed,gnomAD
CR1	P17927	p.Cys1891Tyr	rs1322460871	missense variant	-	NC_000001.11:g.207618203G>A	TOPMed,gnomAD
CR1	P17927	p.Thr1892Ala	rs1391836941	missense variant	-	NC_000001.11:g.207618205A>G	TOPMed
CR1	P17927	p.Asp1893Glu	rs770602678	missense variant	-	NC_000001.11:g.207618210C>A	ExAC,gnomAD
CR1	P17927	p.Gln1894Glu	rs1443930363	missense variant	-	NC_000001.11:g.207618211C>G	TOPMed,gnomAD
CR1	P17927	p.Gln1894Ter	rs1443930363	stop gained	-	NC_000001.11:g.207618211C>T	TOPMed,gnomAD
CR1	P17927	p.Gln1894Arg	rs1298197379	missense variant	-	NC_000001.11:g.207618212A>G	gnomAD
CR1	P17927	p.Gly1895Val	rs776218887	missense variant	-	NC_000001.11:g.207618215G>T	ExAC,gnomAD
CR1	P17927	p.Ser1898Asn	rs759100881	missense variant	-	NC_000001.11:g.207618224G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1898Ile	rs759100881	missense variant	-	NC_000001.11:g.207618224G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1899Pro	rs372676460	missense variant	-	NC_000001.11:g.207618227A>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1899Ter	rs769117496	stop gained	-	NC_000001.11:g.207618226C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1905Glu	rs751436405	missense variant	-	NC_000001.11:g.207618244A>G	ExAC,gnomAD
CR1	P17927	p.Val1907Glu	rs1328324745	missense variant	-	NC_000001.11:g.207619883T>A	TOPMed
CR1	P17927	p.Cys1909Tyr	rs1159121561	missense variant	-	NC_000001.11:g.207619889G>A	gnomAD
CR1	P17927	p.Pro1912Ser	rs887718746	missense variant	-	NC_000001.11:g.207619897C>T	TOPMed
CR1	P17927	p.Asn1916Lys	rs1187493168	missense variant	-	NC_000001.11:g.207619911T>G	gnomAD
CR1	P17927	p.Ile1918Leu	rs1236049985	missense variant	-	NC_000001.11:g.207619915A>C	gnomAD
CR1	P17927	p.Ser1919Leu	rs376743575	missense variant	-	NC_000001.11:g.207619919C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1920Arg	rs768741650	missense variant	-	NC_000001.11:g.207619922A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1921Gly	rs775279350	missense variant	-	NC_000001.11:g.207619925A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1924Ile	rs1402308192	missense variant	-	NC_000001.11:g.207619935G>A	gnomAD
CR1	P17927	p.Lys1926Thr	rs1413788611	missense variant	-	NC_000001.11:g.207619940A>C	gnomAD
CR1	P17927	p.Tyr1930Cys	rs1346710526	missense variant	-	NC_000001.11:g.207619952A>G	gnomAD
CR1	P17927	p.Asp1932His	rs759729002	missense variant	-	NC_000001.11:g.207619957G>C	ExAC,gnomAD
CR1	P17927	p.Tyr1933His	rs764408841	missense variant	-	NC_000001.11:g.207619960T>C	ExAC,gnomAD
CR1	P17927	p.Asp1940Asn	rs1030089897	missense variant	-	NC_000001.11:g.207619981G>A	TOPMed
CR1	P17927	p.Gly1941Arg	rs1305661090	missense variant	-	NC_000001.11:g.207619984G>C	gnomAD
CR1	P17927	p.Thr1943Ile	rs1200358684	missense variant	-	NC_000001.11:g.207619991C>T	gnomAD
CR1	P17927	p.Thr1943Ser	rs1200358684	missense variant	-	NC_000001.11:g.207619991C>G	gnomAD
CR1	P17927	p.Glu1945Gly	rs1277185390	missense variant	-	NC_000001.11:g.207619997A>G	gnomAD
CR1	P17927	p.Trp1949Ter	rs867358083	stop gained	-	NC_000001.11:g.207620010G>A	TOPMed,gnomAD
CR1	P17927	p.Trp1949Cys	rs867358083	missense variant	-	NC_000001.11:g.207620010G>C	TOPMed,gnomAD
CR1	P17927	p.Ser1950Gly	rs751999210	missense variant	-	NC_000001.11:g.207620011A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1952Gly	rs757755662	missense variant	-	NC_000001.11:g.207620017T>G	ExAC,gnomAD
CR1	P17927	p.Ala1954Val	rs781466248	missense variant	-	NC_000001.11:g.207620024C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1954Glu	rs781466248	missense variant	-	NC_000001.11:g.207620024C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1959Tyr	rs779712942	missense variant	-	NC_000001.11:g.207620038G>T	ExAC,gnomAD
CR1	P17927	p.Pro1960Arg	rs748825725	missense variant	-	NC_000001.11:g.207620042C>G	ExAC,gnomAD
CR1	P17927	p.Pro1961Ser	rs1350588945	missense variant	-	NC_000001.11:g.207620044C>T	TOPMed,gnomAD
CR1	P17927	p.Pro1961His	rs1457708351	missense variant	-	NC_000001.11:g.207620045C>A	gnomAD
CR1	P17927	p.Pro1961Leu	rs1457708351	missense variant	-	NC_000001.11:g.207620045C>T	gnomAD
CR1	P17927	p.del1963LysValLeuTerAspArgLysLeuProThrSerTrpSerArgTer	rs1319579253	stop gained	-	NC_000001.11:g.207620049_207620050insAAGGTACTGTAAGATAGAAAACTACCCACATCATGGAGCAGATGA	gnomAD
CR1	P17927	p.Ala1963Thr	rs1386214379	missense variant	-	NC_000001.11:g.207620050G>A	gnomAD
CR1	P17927	p.Thr1966Asn	rs1325827177	missense variant	-	NC_000001.11:g.207620060C>A	TOPMed,gnomAD
CR1	P17927	p.Ser1967Cys	rs767794791	missense variant	-	NC_000001.11:g.207620063C>G	TOPMed
CR1	P17927	p.Ser1967Phe	rs767794791	missense variant	-	NC_000001.11:g.207620063C>T	TOPMed
CR1	P17927	p.Ser1967Pro	rs1232641532	missense variant	-	NC_000001.11:g.207620062T>C	TOPMed
CR1	P17927	p.Arg1968Ser	rs748157061	missense variant	-	NC_000001.11:g.207620065C>A	ExAC,gnomAD
CR1	P17927	p.Arg1968Cys	rs748157061	missense variant	-	NC_000001.11:g.207620065C>T	ExAC,gnomAD
CR1	P17927	p.Thr1969Ala	rs2296160	missense variant	-	NC_000001.11:g.207621975A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1970Arg	rs1181338817	missense variant	-	NC_000001.11:g.207621979A>G	gnomAD
CR1	P17927	p.Asp1971His	rs376203607	missense variant	-	NC_000001.11:g.207621981G>C	ExAC,gnomAD
CR1	P17927	p.Asp1971Asn	rs376203607	missense variant	-	NC_000001.11:g.207621981G>A	ExAC,gnomAD
CR1	P17927	p.Asp1971Val	rs368389600	missense variant	-	NC_000001.11:g.207621982A>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1971Glu	rs577540907	missense variant	-	NC_000001.11:g.207621983T>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ala1972Thr	rs1367687790	missense variant	-	NC_000001.11:g.207621984G>A	gnomAD
CR1	P17927	p.Leu1973Pro	rs1372449830	missense variant	-	NC_000001.11:g.207621988T>C	gnomAD
CR1	P17927	p.Leu1973Val	rs941011635	missense variant	-	NC_000001.11:g.207621987C>G	TOPMed,gnomAD
CR1	P17927	p.Leu1973Phe	rs941011635	missense variant	-	NC_000001.11:g.207621987C>T	TOPMed,gnomAD
CR1	P17927	p.Val1975Ala	rs1307946458	missense variant	-	NC_000001.11:g.207621994T>C	TOPMed,gnomAD
CR1	P17927	p.Gly1976Asp	rs770758740	missense variant	-	NC_000001.11:g.207622993G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1978Ser	rs781012531	missense variant	-	NC_000001.11:g.207622999T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1978Phe	rs1210686232	missense variant	-	NC_000001.11:g.207623000A>T	TOPMed,gnomAD
CR1	P17927	p.Ser1979Pro	rs936179811	missense variant	-	NC_000001.11:g.207623001T>C	TOPMed
CR1	P17927	p.Ser1979Phe	rs1055003237	missense variant	-	NC_000001.11:g.207623002C>T	TOPMed
CR1	P17927	p.Gly1980Val	rs916014313	missense variant	-	NC_000001.11:g.207623005G>T	TOPMed,gnomAD
CR1	P17927	p.Thr1981Ala	rs745630409	missense variant	-	NC_000001.11:g.207623007A>G	ExAC,gnomAD
CR1	P17927	p.Thr1981Met	rs768897573	missense variant	-	NC_000001.11:g.207623008C>T	ExAC,gnomAD
CR1	P17927	p.Phe1983Ile	rs948794732	missense variant	-	NC_000001.11:g.207623013T>A	TOPMed,gnomAD
CR1	P17927	p.Phe1983Leu	rs948794732	missense variant	-	NC_000001.11:g.207623013T>C	TOPMed,gnomAD
CR1	P17927	p.Phe1983Leu	rs1311566124	missense variant	-	NC_000001.11:g.207623015C>A	TOPMed
CR1	P17927	p.Phe1983Ser	rs1188201350	missense variant	-	NC_000001.11:g.207623014T>C	gnomAD
CR1	P17927	p.Phe1984Leu	rs1045757587	missense variant	-	NC_000001.11:g.207623016T>C	TOPMed,gnomAD
CR1	P17927	p.Ile1985Ser	rs761809357	missense variant	-	NC_000001.11:g.207623020T>G	ExAC,gnomAD
CR1	P17927	p.Ile1985Thr	rs761809357	missense variant	-	NC_000001.11:g.207623020T>C	ExAC,gnomAD
CR1	P17927	p.Leu1987Pro	rs773158798	missense variant	-	NC_000001.11:g.207623026T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1987Ile	rs772120438	missense variant	-	NC_000001.11:g.207623025C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1989Thr	rs374944231	missense variant	-	NC_000001.11:g.207623032T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1992Tyr	rs766965331	missense variant	-	NC_000001.11:g.207623041C>A	ExAC,gnomAD
CR1	P17927	p.Lys1997Glu	rs754289646	missense variant	-	NC_000001.11:g.207623055A>G	ExAC,gnomAD
CR1	P17927	p.Gly2001Ser	rs1219362352	missense variant	-	NC_000001.11:g.207623067G>A	gnomAD
CR1	P17927	p.Asn2002Asp	rs771591723	missense variant	-	NC_000001.11:g.207630518A>G	ExAC,gnomAD
CR1	P17927	p.Asn2002Ile	rs777224485	missense variant	-	NC_000001.11:g.207630519A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn2002Ser	rs777224485	missense variant	-	NC_000001.11:g.207630519A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn2003Lys	rs759984264	missense variant	-	NC_000001.11:g.207630523T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.His2005Arg	rs1214037809	missense variant	-	NC_000001.11:g.207630528A>G	TOPMed
CR1	P17927	p.His2005Tyr	rs765764363	missense variant	-	NC_000001.11:g.207630527C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.His2005Asn	rs765764363	missense variant	-	NC_000001.11:g.207630527C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu2006Gly	rs775705835	missense variant	-	NC_000001.11:g.207630531A>G	ExAC,gnomAD
CR1	P17927	p.Asn2007Ser	rs1363146419	missense variant	-	NC_000001.11:g.207630534A>G	gnomAD
CR1	P17927	p.Pro2008Ser	rs1456413643	missense variant	-	NC_000001.11:g.207630536C>T	TOPMed,gnomAD
CR1	P17927	p.Val2011Gly	rs372485451	missense variant	-	NC_000001.11:g.207630546T>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His2014Arg	rs1407939215	missense variant	-	NC_000001.11:g.207630555A>G	gnomAD
CR1	P17927	p.His2016Tyr	rs756707673	missense variant	-	NC_000001.11:g.207630560C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln2018Arg	rs1379657733	missense variant	-	NC_000001.11:g.207630567A>G	gnomAD
CR1	P17927	p.Gln2018Pro	rs1379657733	missense variant	-	NC_000001.11:g.207630567A>C	gnomAD
CR1	P17927	p.Ser2022Ile	rs539578401	missense variant	-	NC_000001.11:g.207630579G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Val2023Leu	rs199592524	missense variant	-	NC_000001.11:g.207630581G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val2023Ile	rs199592524	missense variant	-	NC_000001.11:g.207630581G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro2025His	rs758680091	missense variant	-	NC_000001.11:g.207630588C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro2025Ser	rs749007160	missense variant	-	NC_000001.11:g.207630587C>T	ExAC,gnomAD
CR1	P17927	p.Pro2025Leu	rs758680091	missense variant	-	NC_000001.11:g.207630588C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg2026Ter	rs777810077	stop gained	-	NC_000001.11:g.207630590C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg2026Gln	rs115510609	missense variant	-	NC_000001.11:g.207630591G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr2027Ile	rs771072345	missense variant	-	NC_000001.11:g.207630594C>T	ExAC,gnomAD
CR1	P17927	p.Gln2029Arg	rs776850333	missense variant	-	NC_000001.11:g.207630600A>G	ExAC,gnomAD
CR1	P17927	p.Thr2030Ala	rs202101633	missense variant	-	NC_000001.11:g.207630602A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu2033Asp	rs189822933	missense variant	-	NC_000001.11:g.207630613A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser2035Gly	rs1462538290	missense variant	-	NC_000001.11:g.207630617A>G	gnomAD
CR1	P17927	p.Arg2036Ser	rs1325918800	missense variant	-	NC_000001.11:g.207639397G>T	gnomAD
CR1	P17927	p.Val2037Asp	rs1331156785	missense variant	-	NC_000001.11:g.207639399T>A	TOPMed
CR1	P17927	p.Val2037Phe	rs1225422125	missense variant	-	NC_000001.11:g.207639398G>T	gnomAD
CR1	P17927	p.Leu2038Phe	rs1273810900	missense variant	-	NC_000001.11:g.207639401C>T	TOPMed,gnomAD
CR1	P17927	p.Gly2Val	rs1179458153	missense variant	-	NC_000001.11:g.207496272G>T	gnomAD
CR1	P17927	p.Ala3Val	rs1422312923	missense variant	-	NC_000001.11:g.207496275C>T	TOPMed
CR1	P17927	p.Ala3Ser	rs1438089128	missense variant	-	NC_000001.11:g.207496274G>T	gnomAD
CR1	P17927	p.Ser5Ala	rs1270698778	missense variant	-	NC_000001.11:g.207496280T>G	TOPMed,gnomAD
CR1	P17927	p.Arg7Gly	rs1038479607	missense variant	-	NC_000001.11:g.207496286A>G	TOPMed
CR1	P17927	p.Pro9Arg	rs1251291603	missense variant	-	NC_000001.11:g.207496293C>G	TOPMed
CR1	P17927	p.Pro11Ala	rs781322624	missense variant	-	NC_000001.11:g.207496298C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro11Thr	rs781322624	missense variant	-	NC_000001.11:g.207496298C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val12Ile	rs372551774	missense variant	-	NC_000001.11:g.207496301G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly13Arg	rs1276701863	missense variant	-	NC_000001.11:g.207496304G>C	TOPMed
CR1	P17927	p.Pro14Gln	rs769828093	missense variant	-	NC_000001.11:g.207496308C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro15Leu	rs775590306	missense variant	-	NC_000001.11:g.207496311C>T	ExAC,gnomAD
CR1	P17927	p.Pro15Ser	rs1402904259	missense variant	-	NC_000001.11:g.207496310C>T	gnomAD
CR1	P17927	p.Ala16Gly	rs774774612	missense variant	-	NC_000001.11:g.207496314C>G	ExAC,gnomAD
CR1	P17927	p.Ala16Thr	rs369804986	missense variant	-	NC_000001.11:g.207496313G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala16Glu	rs774774612	missense variant	-	NC_000001.11:g.207496314C>A	ExAC,gnomAD
CR1	P17927	p.Pro17Ser	rs772948093	missense variant	-	NC_000001.11:g.207496316C>T	ExAC,gnomAD
CR1	P17927	p.Pro17Arg	rs566717082	missense variant	-	NC_000001.11:g.207496317C>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly18Ser	rs1318306169	missense variant	-	NC_000001.11:g.207496319G>A	TOPMed,gnomAD
CR1	P17927	p.Gly18Val	rs1197723622	missense variant	-	NC_000001.11:g.207496320G>T	TOPMed,gnomAD
CR1	P17927	p.Leu19His	rs1255951917	missense variant	-	NC_000001.11:g.207496323T>A	gnomAD
CR1	P17927	p.Leu19Phe	rs575513177	missense variant	-	NC_000001.11:g.207496322C>T	TOPMed
CR1	P17927	p.Pro20Leu	rs199732885	missense variant	-	NC_000001.11:g.207496326C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe21Leu	rs1423387453	missense variant	-	NC_000001.11:g.207496330C>G	gnomAD
CR1	P17927	p.Cys22Arg	rs1186041714	missense variant	-	NC_000001.11:g.207496331T>C	gnomAD
CR1	P17927	p.Leu28Pro	rs752683886	missense variant	-	NC_000001.11:g.207496350T>C	ExAC,gnomAD
CR1	P17927	p.Ala29Thr	rs555401223	missense variant	-	NC_000001.11:g.207496352G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Val30Ala	rs777578334	missense variant	-	NC_000001.11:g.207496356T>C	ExAC,gnomAD
CR1	P17927	p.Val32Gly	rs1433800468	missense variant	-	NC_000001.11:g.207496362T>G	TOPMed
CR1	P17927	p.Val32Met	rs756378518	missense variant	-	NC_000001.11:g.207496361G>A	ExAC,gnomAD
CR1	P17927	p.Leu34Val	rs370940682	missense variant	-	NC_000001.11:g.207496367C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val38Ala	rs1256878310	missense variant	-	NC_000001.11:g.207496380T>C	gnomAD
CR1	P17927	p.Val38Met	rs1205577751	missense variant	-	NC_000001.11:g.207496379G>A	TOPMed
CR1	P17927	p.Gly41Arg	rs1198741575	missense variant	-	NC_000001.11:g.207496388G>C	gnomAD
CR1	P17927	p.Cys43Tyr	rs200480103	missense variant	-	NC_000001.11:g.207505910G>A	ExAC,gnomAD
CR1	P17927	p.Asn44Ser	rs1204789544	missense variant	-	NC_000001.11:g.207505913A>G	TOPMed
CR1	P17927	p.Asn44Asp	rs1245523386	missense variant	-	NC_000001.11:g.207505912A>G	TOPMed
CR1	P17927	p.Ala45Val	rs1464525336	missense variant	-	NC_000001.11:g.207505916C>T	TOPMed
CR1	P17927	p.Glu47Lys	rs534091932	missense variant	-	NC_000001.11:g.207505921G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Trp48Arg	rs769544255	missense variant	-	NC_000001.11:g.207505924T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu49Phe	rs1206948700	missense variant	-	NC_000001.11:g.207505927C>T	TOPMed
CR1	P17927	p.Pro50Ser	rs774858867	missense variant	-	NC_000001.11:g.207505930C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala52Val	rs748734391	missense variant	-	NC_000001.11:g.207505937C>T	ExAC,gnomAD
CR1	P17927	p.Arg53Trp	rs768171570	missense variant	-	NC_000001.11:g.207505939A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg53Gly	rs768171570	missense variant	-	NC_000001.11:g.207505939A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu57Ile	rs1446364125	missense variant	-	NC_000001.11:g.207505951C>A	TOPMed,gnomAD
CR1	P17927	p.Thr58Ala	rs1277802342	missense variant	-	NC_000001.11:g.207505954A>G	gnomAD
CR1	P17927	p.Thr58Asn	rs767183179	missense variant	-	NC_000001.11:g.207505955C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu60Lys	rs370964624	missense variant	-	NC_000001.11:g.207505960G>A	ESP,ExAC
CR1	P17927	p.Glu60Asp	rs4844600	missense variant	-	NC_000001.11:g.207505962A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro64Ser	rs368774493	missense variant	-	NC_000001.11:g.207505972C>T	ESP,ExAC,gnomAD
CR1	P17927	p.Ile65Asn	rs1318015787	missense variant	-	NC_000001.11:g.207505976T>A	TOPMed
CR1	P17927	p.Thr67Ile	rs148543091	missense variant	-	NC_000001.11:g.207505982C>T	1000Genomes,ESP,TOPMed,gnomAD
CR1	P17927	p.Tyr68His	rs764290811	missense variant	-	NC_000001.11:g.207505984T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr71His	rs757833188	missense variant	-	NC_000001.11:g.207505993T>C	ExAC,gnomAD
CR1	P17927	p.Tyr71Asp	rs757833188	missense variant	-	NC_000001.11:g.207505993T>G	ExAC,gnomAD
CR1	P17927	p.Glu72Val	rs781398817	missense variant	-	NC_000001.11:g.207505997A>T	ExAC,gnomAD
CR1	P17927	p.Cys73Phe	rs1387422169	missense variant	-	NC_000001.11:g.207506000G>T	TOPMed
CR1	P17927	p.Arg74Leu	rs200913967	missense variant	-	NC_000001.11:g.207506003G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg74Cys	rs536471861	missense variant	-	NC_000001.11:g.207506002C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg74His	rs200913967	missense variant	-	NC_000001.11:g.207506003G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly76Arg	rs1478766910	missense variant	-	NC_000001.11:g.207506008G>C	gnomAD
CR1	P17927	p.Ser78Cys	rs1171079587	missense variant	-	NC_000001.11:g.207506015C>G	gnomAD
CR1	P17927	p.Gly79Arg	rs773894177	missense variant	-	NC_000001.11:g.207506017G>A	ExAC,gnomAD
CR1	P17927	p.Arg80Ile	rs984752226	missense variant	-	NC_000001.11:g.207506021G>T	TOPMed
CR1	P17927	p.Pro81Leu	rs748011435	missense variant	-	NC_000001.11:g.207506024C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro81Arg	rs748011435	missense variant	-	NC_000001.11:g.207506024C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser83Pro	rs760447829	missense variant	-	NC_000001.11:g.207506029T>C	ExAC,gnomAD
CR1	P17927	p.Ile84Val	rs1283688718	missense variant	-	NC_000001.11:g.207506032A>G	gnomAD
CR1	P17927	p.Ile85Val	rs1354038400	missense variant	-	NC_000001.11:g.207506035A>G	gnomAD
CR1	P17927	p.Ile85Thr	rs766100604	missense variant	-	NC_000001.11:g.207506036T>C	ExAC,gnomAD
CR1	P17927	p.Asn89Ile	rs1317743493	missense variant	-	NC_000001.11:g.207506048A>T	TOPMed,gnomAD
CR1	P17927	p.Asn89Lys	rs763296805	missense variant	-	NC_000001.11:g.207506049C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val91Ile	rs186041346	missense variant	-	NC_000001.11:g.207506053G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr93Asn	rs1254821847	missense variant	-	NC_000001.11:g.207506060C>A	gnomAD
CR1	P17927	p.Ala95Thr	rs1489203243	missense variant	-	NC_000001.11:g.207506065G>A	gnomAD
CR1	P17927	p.Lys96Asn	rs1422617991	missense variant	-	NC_000001.11:g.207506070G>C	gnomAD
CR1	P17927	p.Arg98Ser	rs750911871	missense variant	-	NC_000001.11:g.207506076G>T	ExAC,gnomAD
CR1	P17927	p.Cys99Gly	rs1326432997	missense variant	-	NC_000001.11:g.207506077T>G	TOPMed
CR1	P17927	p.Arg100Lys	rs1322506903	missense variant	-	NC_000001.11:g.207506081G>A	TOPMed
CR1	P17927	p.Arg100Ser	rs1384664298	missense variant	-	NC_000001.11:g.207506082A>T	TOPMed
CR1	P17927	p.Arg101Ser	rs756455451	missense variant	-	NC_000001.11:g.207506083C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg101Gly	rs756455451	missense variant	-	NC_000001.11:g.207506083C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg101Cys	rs756455451	missense variant	-	NC_000001.11:g.207506083C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys102Asn	rs746933193	missense variant	-	NC_000001.11:g.207506718A>T	ExAC,gnomAD
CR1	P17927	p.Arg105Cys	rs11587944	missense variant	-	NC_000001.11:g.207506725C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg105His	rs554133188	missense variant	-	NC_000001.11:g.207506726G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro107Leu	rs745592804	missense variant	-	NC_000001.11:g.207506732C>T	ExAC,gnomAD
CR1	P17927	p.Pro108Leu	rs769726347	missense variant	-	NC_000001.11:g.207506735C>T	ExAC,gnomAD
CR1	P17927	p.Asp109Gly	rs377658670	missense variant	-	NC_000001.11:g.207506738A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp109Val	rs377658670	missense variant	-	NC_000001.11:g.207506738A>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro110Thr	rs370425971	missense variant	-	NC_000001.11:g.207506740C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val111Ala	rs773217946	missense variant	-	NC_000001.11:g.207506744T>C	ExAC,gnomAD
CR1	P17927	p.Val115Ala	rs3991747	missense variant	-	NC_000001.11:g.207506756T>C	TOPMed,gnomAD
CR1	P17927	p.Val115Leu	rs761154473	missense variant	-	NC_000001.11:g.207506755G>C	ExAC,gnomAD
CR1	P17927	p.Val115Gly	rs3991747	missense variant	-	NC_000001.11:g.207506756T>G	TOPMed,gnomAD
CR1	P17927	p.Val117Ala	rs993321712	missense variant	-	NC_000001.11:g.207506762T>C	TOPMed
CR1	P17927	p.Ile118Thr	rs376045736	missense variant	-	NC_000001.11:g.207506765T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys119Thr	rs55715268	missense variant	-	NC_000001.11:g.207506768A>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly120Ala	rs752354880	missense variant	-	NC_000001.11:g.207506771G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly120Asp	rs752354880	missense variant	-	NC_000001.11:g.207506771G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile121Met	rs763635626	missense variant	-	NC_000001.11:g.207506775C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln122Leu	rs964384441	missense variant	-	NC_000001.11:g.207506777A>T	TOPMed,gnomAD
CR1	P17927	p.Gly124Arg	rs55962594	missense variant	-	NC_000001.11:g.207506782G>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly124Arg	rs55962594	missense variant	-	NC_000001.11:g.207506782G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser125Thr	rs1284775847	missense variant	-	NC_000001.11:g.207506785T>A	gnomAD
CR1	P17927	p.Ser125Phe	rs781217918	missense variant	-	NC_000001.11:g.207506786C>T	ExAC,gnomAD
CR1	P17927	p.Gln126Pro	rs1211525831	missense variant	-	NC_000001.11:g.207506789A>C	gnomAD
CR1	P17927	p.Ser130Phe	rs779758291	missense variant	-	NC_000001.11:g.207506801C>T	ExAC,gnomAD
CR1	P17927	p.Ser130Pro	rs755936644	missense variant	-	NC_000001.11:g.207506800T>C	ExAC,gnomAD
CR1	P17927	p.Thr132Pro	rs55906048	missense variant	-	NC_000001.11:g.207506806A>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys133Glu	rs183171969	missense variant	-	NC_000001.11:g.207506809A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly134Arg	rs767211812	missense variant	-	NC_000001.11:g.207506812G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr135His	rs571542796	missense variant	-	NC_000001.11:g.207511570T>C	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Tyr135Cys	rs763171525	missense variant	-	NC_000001.11:g.207511571A>G	ExAC,gnomAD
CR1	P17927	p.Arg136Ter	rs764542666	stop gained	-	NC_000001.11:g.207511573C>T	ExAC,gnomAD
CR1	P17927	p.Arg136Gln	rs774108631	missense variant	-	NC_000001.11:g.207511574G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu137His	rs1176392610	missense variant	-	NC_000001.11:g.207511577T>A	TOPMed,gnomAD
CR1	P17927	p.Leu137Pro	rs1176392610	missense variant	-	NC_000001.11:g.207511577T>C	TOPMed,gnomAD
CR1	P17927	p.Leu137Phe	rs374701486	missense variant	-	NC_000001.11:g.207511576C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu137Ile	rs374701486	missense variant	-	NC_000001.11:g.207511576C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly139Cys	rs750014956	missense variant	-	NC_000001.11:g.207511582G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser140Phe	rs760660307	missense variant	-	NC_000001.11:g.207511586C>T	ExAC,gnomAD
CR1	P17927	p.Ser141Leu	rs368197693	missense variant	-	NC_000001.11:g.207511589C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser142Tyr	rs1369522609	missense variant	-	NC_000001.11:g.207511592C>A	gnomAD
CR1	P17927	p.Ala143Val	rs1304528755	missense variant	-	NC_000001.11:g.207511595C>T	gnomAD
CR1	P17927	p.Ile146Asn	rs778796743	missense variant	-	NC_000001.11:g.207511604T>A	ExAC,gnomAD
CR1	P17927	p.Ile147Met	rs1232099294	missense variant	-	NC_000001.11:g.207511608C>G	TOPMed,gnomAD
CR1	P17927	p.Gly149Asp	rs1288254338	missense variant	-	NC_000001.11:g.207511613G>A	gnomAD
CR1	P17927	p.Val152Ile	rs1318002167	missense variant	-	NC_000001.11:g.207511621G>A	gnomAD
CR1	P17927	p.Ile153Val	rs751749798	missense variant	-	NC_000001.11:g.207511624A>G	ExAC,gnomAD
CR1	P17927	p.Asn156Ser	rs1259302874	missense variant	-	NC_000001.11:g.207511634A>G	gnomAD
CR1	P17927	p.Thr158Ala	rs1489712968	missense variant	-	NC_000001.11:g.207511639A>G	gnomAD
CR1	P17927	p.Thr158Ile	rs757524712	missense variant	-	NC_000001.11:g.207511640C>T	ExAC,gnomAD
CR1	P17927	p.Pro159Leu	rs371731619	missense variant	-	NC_000001.11:g.207511643C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro159Thr	rs1251927369	missense variant	-	NC_000001.11:g.207511642C>A	TOPMed,gnomAD
CR1	P17927	p.Ile160Val	rs769933207	missense variant	-	NC_000001.11:g.207511645A>G	ExAC,TOPMed
CR1	P17927	p.Asp162His	rs1354035846	missense variant	-	NC_000001.11:g.207511651G>C	TOPMed
CR1	P17927	p.Gly167Glu	rs772575230	missense variant	-	NC_000001.11:g.207523623G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu168Pro	rs1436871849	missense variant	-	NC_000001.11:g.207523626T>C	gnomAD
CR1	P17927	p.Leu168Val	rs1263245201	missense variant	-	NC_000001.11:g.207523625C>G	TOPMed,gnomAD
CR1	P17927	p.Pro169Leu	rs772945933	missense variant	-	NC_000001.11:g.207523629C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro169Ser	rs1201736464	missense variant	-	NC_000001.11:g.207523628C>T	gnomAD
CR1	P17927	p.Pro169His	rs772945933	missense variant	-	NC_000001.11:g.207523629C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro170Thr	rs1343627391	missense variant	-	NC_000001.11:g.207523631C>A	gnomAD
CR1	P17927	p.Thr171Ser	rs759375883	missense variant	-	NC_000001.11:g.207523635C>G	ExAC,gnomAD
CR1	P17927	p.Ile172Val	rs775410210	missense variant	-	NC_000001.11:g.207523637A>G	ExAC,gnomAD
CR1	P17927	p.Thr173Ile	rs373261985	missense variant	-	NC_000001.11:g.207523641C>T	ESP,ExAC,gnomAD
CR1	P17927	p.Thr173Asn	rs373261985	missense variant	-	NC_000001.11:g.207523641C>A	ESP,ExAC,gnomAD
CR1	P17927	p.Thr173Ala	rs116806486	missense variant	-	NC_000001.11:g.207523640A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn174Asp	rs1168357896	missense variant	-	NC_000001.11:g.207523643A>G	gnomAD
CR1	P17927	p.Asn174Lys	rs750581759	missense variant	-	NC_000001.11:g.207523645T>A	ExAC,gnomAD
CR1	P17927	p.Phe177Val	rs377171662	missense variant	-	NC_000001.11:g.207523652T>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser179Asn	rs766358157	missense variant	-	NC_000001.11:g.207523659G>A	ExAC,gnomAD
CR1	P17927	p.Thr180Ile	rs754020848	missense variant	-	NC_000001.11:g.207523662C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr180Asn	rs754020848	missense variant	-	NC_000001.11:g.207523662C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn181Ser	rs1040406865	missense variant	-	NC_000001.11:g.207523665A>G	TOPMed
CR1	P17927	p.Arg182Lys	rs1251457595	missense variant	-	NC_000001.11:g.207523668G>A	gnomAD
CR1	P17927	p.Glu183Ter	rs1402175043	stop gained	-	NC_000001.11:g.207523670G>T	gnomAD
CR1	P17927	p.Glu183Gly	rs1271137614	missense variant	-	NC_000001.11:g.207523671A>G	gnomAD
CR1	P17927	p.Asn184Lys	rs779501341	missense variant	-	NC_000001.11:g.207523675T>A	ExAC,gnomAD
CR1	P17927	p.Asn184Tyr	rs755116652	missense variant	-	NC_000001.11:g.207523673A>T	ExAC,gnomAD
CR1	P17927	p.His186Pro	rs748682663	missense variant	-	NC_000001.11:g.207523680A>C	ExAC,gnomAD
CR1	P17927	p.Tyr187Cys	rs778319139	missense variant	-	NC_000001.11:g.207523683A>G	ExAC,gnomAD
CR1	P17927	p.Tyr187Asp	rs758794007	missense variant	-	NC_000001.11:g.207523682T>G	ExAC,gnomAD
CR1	P17927	p.Val190Glu	rs1489235099	missense variant	-	NC_000001.11:g.207523692T>A	gnomAD
CR1	P17927	p.Thr192Ser	rs1193584014	missense variant	-	NC_000001.11:g.207523698C>G	TOPMed,gnomAD
CR1	P17927	p.Arg194Ser	rs372485667	missense variant	-	NC_000001.11:g.207523703C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg194Cys	rs372485667	missense variant	-	NC_000001.11:g.207523703C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg194His	rs575341867	missense variant	-	NC_000001.11:g.207523704G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg194Pro	rs575341867	missense variant	-	NC_000001.11:g.207523704G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn196Tyr	rs776000137	missense variant	-	NC_000001.11:g.207523709A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro197Leu	rs745308596	missense variant	-	NC_000001.11:g.207523713C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly200Arg	rs533647702	missense variant	-	NC_000001.11:g.207523721G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly201Glu	rs1465640883	missense variant	-	NC_000001.11:g.207523725G>A	gnomAD
CR1	P17927	p.Lys203Met	rs1242529196	missense variant	-	NC_000001.11:g.207523731A>T	TOPMed
CR1	P17927	p.Glu206Gln	rs774262384	missense variant	-	NC_000001.11:g.207523739G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val208Met	rs760805570	missense variant	-	NC_000001.11:g.207523745G>A	ExAC,gnomAD
CR1	P17927	p.Glu210Gly	rs765435100	missense variant	-	NC_000001.11:g.207523752A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu210Lys	rs755057022	missense variant	-	NC_000001.11:g.207523751G>A	ExAC,gnomAD
CR1	P17927	p.Pro211His	rs905671575	missense variant	-	NC_000001.11:g.207523755C>A	TOPMed,gnomAD
CR1	P17927	p.Ile213Val	rs753222609	missense variant	-	NC_000001.11:g.207523760A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr214His	rs759020028	missense variant	-	NC_000001.11:g.207523763T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr216Ala	rs1193039629	missense variant	-	NC_000001.11:g.207523769A>G	gnomAD
CR1	P17927	p.Thr216Ile	rs1393369335	missense variant	-	NC_000001.11:g.207523770C>T	gnomAD
CR1	P17927	p.Asn218Lys	rs747471152	missense variant	-	NC_000001.11:g.207523777T>G	ExAC,gnomAD
CR1	P17927	p.Asp220Glu	rs564050886	missense variant	-	NC_000001.11:g.207523783T>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp220Asn	rs780838328	missense variant	-	NC_000001.11:g.207523781G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val222Leu	rs1328356685	missense variant	-	NC_000001.11:g.207523787G>T	gnomAD
CR1	P17927	p.Ser226Thr	rs769263469	missense variant	-	NC_000001.11:g.207523800G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser226Arg	rs375736945	missense variant	-	NC_000001.11:g.207523801C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly227Asp	rs1451191641	missense variant	-	NC_000001.11:g.207523803G>A	TOPMed
CR1	P17927	p.Gly227Ser	rs768650170	missense variant	-	NC_000001.11:g.207523802G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala229Pro	rs771782651	missense variant	-	NC_000001.11:g.207523808G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala229Thr	rs771782651	missense variant	-	NC_000001.11:g.207523808G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln231His	rs752881313	missense variant	-	NC_000001.11:g.207523816G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln231Ter	rs1211344955	stop gained	-	NC_000001.11:g.207523814C>T	TOPMed,gnomAD
CR1	P17927	p.Gln231His	rs752881313	missense variant	-	NC_000001.11:g.207523816G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys232Phe	rs763547186	missense variant	-	NC_000001.11:g.207523818G>T	ExAC,gnomAD
CR1	P17927	p.Ile233Leu	rs1431088864	missense variant	-	NC_000001.11:g.207523820A>C	TOPMed
CR1	P17927	p.Ile234Thr	rs200373331	missense variant	-	NC_000001.11:g.207523824T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro235Leu	rs1251182131	missense variant	-	NC_000001.11:g.207523827C>T	gnomAD
CR1	P17927	p.Thr239Ala	rs1439694054	missense variant	-	NC_000001.11:g.207523838A>G	TOPMed,gnomAD
CR1	P17927	p.Thr239Met	rs374551420	missense variant	-	NC_000001.11:g.207523839C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro240Ser	rs1469085098	missense variant	-	NC_000001.11:g.207523841C>T	gnomAD
CR1	P17927	p.Pro240Leu	rs781450002	missense variant	-	NC_000001.11:g.207523842C>T	ExAC,TOPMed
CR1	P17927	p.Pro241Leu	rs750057117	missense variant	-	NC_000001.11:g.207523845C>T	ExAC,gnomAD
CR1	P17927	p.Val243Ala	rs976193268	missense variant	-	NC_000001.11:g.207523851T>C	TOPMed
CR1	P17927	p.Ile247Val	rs1419095264	missense variant	-	NC_000001.11:g.207523862A>G	gnomAD
CR1	P17927	p.Ile247Thr	rs755824128	missense variant	-	NC_000001.11:g.207523863T>C	ExAC,gnomAD
CR1	P17927	p.Leu248Phe	rs779537863	missense variant	-	NC_000001.11:g.207523867G>C	ExAC,gnomAD
CR1	P17927	p.Val249Ala	rs1274393352	missense variant	-	NC_000001.11:g.207523869T>C	gnomAD
CR1	P17927	p.Val249Leu	rs1391406413	missense variant	-	NC_000001.11:g.207523868G>C	TOPMed,gnomAD
CR1	P17927	p.Ser250Pro	rs923349850	missense variant	-	NC_000001.11:g.207523871T>C	TOPMed,gnomAD
CR1	P17927	p.Asp251Glu	rs768068877	missense variant	-	NC_000001.11:g.207523876C>A	ExAC,gnomAD
CR1	P17927	p.Asn252Ser	rs1245182081	missense variant	-	NC_000001.11:g.207523878A>G	TOPMed
CR1	P17927	p.Asn252Lys	rs778864339	missense variant	-	NC_000001.11:g.207523879C>G	ExAC,gnomAD
CR1	P17927	p.Phe256Leu	rs748064449	missense variant	-	NC_000001.11:g.207523889T>C	ExAC,gnomAD
CR1	P17927	p.Phe256Ile	rs748064449	missense variant	-	NC_000001.11:g.207523889T>A	ExAC,gnomAD
CR1	P17927	p.Asn259Thr	rs1341746303	missense variant	-	NC_000001.11:g.207523899A>C	gnomAD
CR1	P17927	p.Glu260Gly	rs934714738	missense variant	-	NC_000001.11:g.207523902A>G	TOPMed
CR1	P17927	p.Val261Ile	rs773187217	missense variant	-	NC_000001.11:g.207523904G>A	ExAC
CR1	P17927	p.Val262Leu	rs1196417997	missense variant	-	NC_000001.11:g.207523907G>T	gnomAD
CR1	P17927	p.Arg265Met	rs1053518736	missense variant	-	NC_000001.11:g.207523917G>T	TOPMed
CR1	P17927	p.Arg265Ser	rs759816942	missense variant	-	NC_000001.11:g.207523918G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro268Leu	rs1436556198	missense variant	-	NC_000001.11:g.207523926C>T	gnomAD
CR1	P17927	p.Val271Gly	rs770207666	missense variant	-	NC_000001.11:g.207523935T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met272Arg	rs528582284	missense variant	-	NC_000001.11:g.207523938T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Met272Thr	rs528582284	missense variant	-	NC_000001.11:g.207523938T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Met272Val	rs1274586537	missense variant	-	NC_000001.11:g.207523937A>G	TOPMed
CR1	P17927	p.Pro275Arg	rs1374370316	missense variant	-	NC_000001.11:g.207523947C>G	TOPMed,gnomAD
CR1	P17927	p.Pro275Ala	rs764103311	missense variant	-	NC_000001.11:g.207523946C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro275Thr	rs764103311	missense variant	-	NC_000001.11:g.207523946C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro275Leu	rs1374370316	missense variant	-	NC_000001.11:g.207523947C>T	TOPMed,gnomAD
CR1	P17927	p.Arg276His	rs767912993	missense variant	-	NC_000001.11:g.207523950G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg276Cys	rs762275854	missense variant	-	NC_000001.11:g.207523949C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg277Leu	rs377051799	missense variant	-	NC_000001.11:g.207523953G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg277Cys	rs199777103	missense variant	-	NC_000001.11:g.207523952C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg277Ser	rs199777103	missense variant	-	NC_000001.11:g.207523952C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg277His	rs377051799	missense variant	-	NC_000001.11:g.207523953G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val278Met	rs1426371821	missense variant	-	NC_000001.11:g.207523955G>A	TOPMed,gnomAD
CR1	P17927	p.Lys279Asn	rs1313476388	missense variant	-	NC_000001.11:g.207523960G>C	gnomAD
CR1	P17927	p.Lys279Thr	rs1175764772	missense variant	-	NC_000001.11:g.207523959A>C	TOPMed
CR1	P17927	p.Cys280Phe	rs753515222	missense variant	-	NC_000001.11:g.207523962G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala282Thr	rs754466659	missense variant	-	NC_000001.11:g.207523967G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp286Leu	rs748094202	missense variant	-	NC_000001.11:g.207523980G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp286Ter	rs896884104	stop gained	-	NC_000001.11:g.207523981G>A	TOPMed
CR1	P17927	p.Pro288Leu	rs375365893	missense variant	-	NC_000001.11:g.207523986C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu289Ala	rs1213631806	missense variant	-	NC_000001.11:g.207523989A>C	gnomAD
CR1	P17927	p.Leu290Val	rs1485631822	missense variant	-	NC_000001.11:g.207523991C>G	TOPMed,gnomAD
CR1	P17927	p.Leu290Ile	rs1485631822	missense variant	-	NC_000001.11:g.207523991C>A	TOPMed,gnomAD
CR1	P17927	p.Ser292Gly	rs746732646	missense variant	-	NC_000001.11:g.207523997A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys293Phe	rs1264321260	missense variant	-	NC_000001.11:g.207524001G>T	gnomAD
CR1	P17927	p.Arg295Lys	rs770862116	missense variant	-	NC_000001.11:g.207524007G>A	ExAC,gnomAD
CR1	P17927	p.Val296Leu	rs1192074518	missense variant	-	NC_000001.11:g.207524009G>T	gnomAD
CR1	P17927	p.Val296Ala	rs1304220503	missense variant	-	NC_000001.11:g.207526753T>C	gnomAD
CR1	P17927	p.Gln298Lys	rs962914470	missense variant	-	NC_000001.11:g.207526758C>A	TOPMed
CR1	P17927	p.Pro300Ser	rs1425702067	missense variant	-	NC_000001.11:g.207526764C>T	TOPMed
CR1	P17927	p.Asp302Asn	rs1370393511	missense variant	-	NC_000001.11:g.207526770G>A	gnomAD
CR1	P17927	p.Val303Ile	rs1389929951	missense variant	-	NC_000001.11:g.207526773G>A	TOPMed
CR1	P17927	p.Ala306Val	rs1217972447	missense variant	-	NC_000001.11:g.207526783C>T	TOPMed,gnomAD
CR1	P17927	p.Ala306Ser	rs1451844190	missense variant	-	NC_000001.11:g.207526782G>T	TOPMed
CR1	P17927	p.Glu307Ter	rs748121944	stop gained	-	NC_000001.11:g.207526785G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg308His	rs367704854	missense variant	-	NC_000001.11:g.207526789G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg308Cys	rs200399748	missense variant	-	NC_000001.11:g.207526788C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp312Asn	rs1469516392	missense variant	-	NC_000001.11:g.207526800G>A	gnomAD
CR1	P17927	p.Lys313Thr	rs1213975481	missense variant	-	NC_000001.11:g.207526804A>C	gnomAD
CR1	P17927	p.Asp314Asn	rs761207372	missense variant	-	NC_000001.11:g.207526806G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp314Tyr	rs761207372	missense variant	-	NC_000001.11:g.207526806G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn315Lys	rs776915205	missense variant	-	NC_000001.11:g.207526811C>A	ExAC,gnomAD
CR1	P17927	p.Asn315His	rs1487254781	missense variant	-	NC_000001.11:g.207526809A>C	gnomAD
CR1	P17927	p.Ser317Ter	rs759219881	stop gained	-	NC_000001.11:g.207526816C>G	ExAC,gnomAD
CR1	P17927	p.Pro318Arg	rs764728700	missense variant	-	NC_000001.11:g.207526819C>G	ExAC,gnomAD
CR1	P17927	p.Gly319Arg	rs372600922	missense variant	-	NC_000001.11:g.207526821G>A	ESP
CR1	P17927	p.Gln320Ter	rs757797558	stop gained	-	NC_000001.11:g.207526824C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr324His	rs763728342	missense variant	-	NC_000001.11:g.207526836T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser325Asn	rs1385765016	missense variant	-	NC_000001.11:g.207526840G>A	TOPMed
CR1	P17927	p.Ser325Arg	rs751520310	missense variant	-	NC_000001.11:g.207526841C>G	ExAC,gnomAD
CR1	P17927	p.Cys326Tyr	rs1434321433	missense variant	-	NC_000001.11:g.207526843G>A	TOPMed,gnomAD
CR1	P17927	p.Glu327Ala	rs757322596	missense variant	-	NC_000001.11:g.207526846A>C	ExAC,gnomAD
CR1	P17927	p.Glu327Asp	rs1391374001	missense variant	-	NC_000001.11:g.207526847G>T	gnomAD
CR1	P17927	p.Glu327Lys	rs1300002054	missense variant	-	NC_000001.11:g.207526845G>A	gnomAD
CR1	P17927	p.Gly329Ser	rs1337494493	missense variant	-	NC_000001.11:g.207526851G>A	TOPMed,gnomAD
CR1	P17927	p.Gly329Arg	rs1337494493	missense variant	-	NC_000001.11:g.207526851G>C	TOPMed,gnomAD
CR1	P17927	p.Tyr330Cys	rs745583978	missense variant	-	NC_000001.11:g.207526855A>G	ExAC,gnomAD
CR1	P17927	p.Asp331His	rs778957597	missense variant	-	NC_000001.11:g.207526857G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp331Asn	rs778957597	missense variant	-	NC_000001.11:g.207526857G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg333Ter	rs772113259	stop gained	-	NC_000001.11:g.207526863A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg333Gly	rs772113259	missense variant	-	NC_000001.11:g.207526863A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly334Val	rs777876698	missense variant	-	NC_000001.11:g.207526867G>T	ExAC,gnomAD
CR1	P17927	p.Ala336Val	rs1179969727	missense variant	-	NC_000001.11:g.207526873C>T	gnomAD
CR1	P17927	p.Met338Val	rs1290223276	missense variant	-	NC_000001.11:g.207526878A>G	gnomAD
CR1	P17927	p.Arg339Ser	rs377225165	missense variant	-	NC_000001.11:g.207526881C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg339Gly	rs377225165	missense variant	-	NC_000001.11:g.207526881C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg339Cys	rs377225165	missense variant	-	NC_000001.11:g.207526881C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg339His	rs774965150	missense variant	-	NC_000001.11:g.207526882G>A	ExAC,gnomAD
CR1	P17927	p.Gln343Lys	rs1403838676	missense variant	-	NC_000001.11:g.207526893C>A	gnomAD
CR1	P17927	p.Gly344Arg	rs1172595071	missense variant	-	NC_000001.11:g.207526896G>C	gnomAD
CR1	P17927	p.Ser347Gly	rs1355230304	missense variant	-	NC_000001.11:g.207526905A>G	TOPMed,gnomAD
CR1	P17927	p.Ala350Val	rs1482836122	missense variant	-	NC_000001.11:g.207526915C>T	TOPMed
CR1	P17927	p.Pro351Ser	rs762733708	missense variant	-	NC_000001.11:g.207526917C>T	ExAC,gnomAD
CR1	P17927	p.Thr352Arg	rs751182802	missense variant	-	NC_000001.11:g.207526921C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val355Met	rs1202790355	missense variant	-	NC_000001.11:g.207526929G>A	TOPMed
CR1	P17927	p.Asp360Tyr	rs1439402416	missense variant	-	NC_000001.11:g.207527035G>T	TOPMed
CR1	P17927	p.Met362Val	rs1250964369	missense variant	-	NC_000001.11:g.207527041A>G	TOPMed
CR1	P17927	p.Gly363Arg	rs978076149	missense variant	-	NC_000001.11:g.207527044G>C	TOPMed,gnomAD
CR1	P17927	p.Gly368Ser	rs1482222749	missense variant	-	NC_000001.11:g.207527059G>A	TOPMed
CR1	P17927	p.Arg369Cys	rs1264870300	missense variant	-	NC_000001.11:g.207527062C>T	TOPMed
CR1	P17927	p.Arg369His	rs1377758568	missense variant	-	NC_000001.11:g.207527063G>A	TOPMed,gnomAD
CR1	P17927	p.Asn375Tyr	rs1312626897	missense variant	-	NC_000001.11:g.207527080A>T	TOPMed,gnomAD
CR1	P17927	p.Leu378Phe	rs1243032606	missense variant	-	NC_000001.11:g.207527089C>T	gnomAD
CR1	P17927	p.Asp383Asn	rs1432450817	missense variant	-	NC_000001.11:g.207527104G>A	TOPMed,gnomAD
CR1	P17927	p.Glu388Lys	rs1336794654	missense variant	-	NC_000001.11:g.207527119G>A	TOPMed
CR1	P17927	p.Glu388Ter	rs1336794654	stop gained	-	NC_000001.11:g.207527119G>T	TOPMed
CR1	P17927	p.Glu388Gly	rs1394855205	missense variant	-	NC_000001.11:g.207527120A>G	TOPMed
CR1	P17927	p.Val565Leu	rs1264446061	missense variant	-	NC_000001.11:g.207534238G>T	TOPMed
CR1	P17927	p.Gln572His	rs200755424	missense variant	-	NC_000001.11:g.207534261G>T	TOPMed,gnomAD
CR1	P17927	p.Arg576Lys	rs1385355747	missense variant	-	NC_000001.11:g.207534272G>A	TOPMed
CR1	P17927	p.Thr582Ala	rs949243899	missense variant	-	NC_000001.11:g.207534289A>G	TOPMed
CR1	P17927	p.Thr583Pro	rs771009691	missense variant	-	NC_000001.11:g.207534292A>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala623Val	rs1423483198	missense variant	-	NC_000001.11:g.207542212C>T	gnomAD
CR1	P17927	p.Ala623Thr	rs1172570230	missense variant	-	NC_000001.11:g.207542211G>A	gnomAD
CR1	P17927	p.Asn631Ser	rs1319392751	missense variant	-	NC_000001.11:g.207542236A>G	gnomAD
CR1	P17927	p.Asn631Asp	rs1402744807	missense variant	-	NC_000001.11:g.207542235A>G	gnomAD
CR1	P17927	p.Ser639Pro	rs1344196089	missense variant	-	NC_000001.11:g.207542259T>C	gnomAD
CR1	P17927	p.Arg644Cys	rs1454504815	missense variant	-	NC_000001.11:g.207542274C>T	TOPMed
CR1	P17927	p.Arg644His	rs1432514512	missense variant	-	NC_000001.11:g.207542275G>A	gnomAD
CR1	P17927	p.Asn646Ser	rs1327296376	missense variant	-	NC_000001.11:g.207542281A>G	gnomAD
CR1	P17927	p.Pro647Leu	rs1371179681	missense variant	-	NC_000001.11:g.207542284C>T	gnomAD
CR1	P17927	p.Gly650Arg	rs1272946687	missense variant	-	NC_000001.11:g.207542292G>A	TOPMed,gnomAD
CR1	P17927	p.Gly651Arg	rs1352760983	missense variant	-	NC_000001.11:g.207542295G>A	gnomAD
CR1	P17927	p.Val654Met	rs1224094604	missense variant	-	NC_000001.11:g.207542304G>A	gnomAD
CR1	P17927	p.Val658Ala	rs1319273008	missense variant	-	NC_000001.11:g.207542317T>C	TOPMed
CR1	P17927	p.Ser662Thr	rs1450939279	missense variant	-	NC_000001.11:g.207542328T>A	TOPMed
CR1	P17927	p.Tyr664His	rs1464593590	missense variant	-	NC_000001.11:g.207542334T>C	TOPMed,gnomAD
CR1	P17927	p.Thr666Ala	rs1207101946	missense variant	-	NC_000001.11:g.207542340A>G	gnomAD
CR1	P17927	p.Asp670Asn	rs1469007075	missense variant	-	NC_000001.11:g.207542352G>A	gnomAD
CR1	P17927	p.Val672Leu	rs1198268263	missense variant	-	NC_000001.11:g.207542358G>C	gnomAD
CR1	P17927	p.Val672Glu	rs1383759889	missense variant	-	NC_000001.11:g.207542359T>A	TOPMed
CR1	P17927	p.Trp675Arg	rs957992250	missense variant	-	NC_000001.11:g.207542367T>C	TOPMed
CR1	P17927	p.Ser676Asn	rs991182753	missense variant	-	NC_000001.11:g.207542371G>A	TOPMed,gnomAD
CR1	P17927	p.Gly677Ser	rs1159458530	missense variant	-	NC_000001.11:g.207542373G>A	gnomAD
CR1	P17927	p.Pro678Leu	rs1411740870	missense variant	-	NC_000001.11:g.207542377C>T	gnomAD
CR1	P17927	p.Ala679Val	rs949270498	missense variant	-	NC_000001.11:g.207542380C>T	TOPMed,gnomAD
CR1	P17927	p.Ile684Thr	rs140717816	missense variant	-	NC_000001.11:g.207542395T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro685Arg	rs1321051926	missense variant	-	NC_000001.11:g.207542398C>G	TOPMed,gnomAD
CR1	P17927	p.Asn686Thr	rs1337413890	missense variant	-	NC_000001.11:g.207542401A>C	TOPMed,gnomAD
CR1	P17927	p.Cys688Tyr	rs1442903980	missense variant	-	NC_000001.11:g.207542407G>A	TOPMed,gnomAD
CR1	P17927	p.Thr689Met	rs1278700497	missense variant	-	NC_000001.11:g.207542410C>T	TOPMed,gnomAD
CR1	P17927	p.Asn695Ser	rs1326890293	missense variant	-	NC_000001.11:g.207542428A>G	gnomAD
CR1	P17927	p.Ile697Met	rs907688986	missense variant	-	NC_000001.11:g.207542435A>G	TOPMed,gnomAD
CR1	P17927	p.Val699Glu	rs1335731294	missense variant	-	NC_000001.11:g.207542440T>A	TOPMed,gnomAD
CR1	P17927	p.Asp701Asn	rs1435305049	missense variant	-	NC_000001.11:g.207542445G>A	TOPMed
CR1	P17927	p.Glu710Ter	rs940457433	stop gained	-	NC_000001.11:g.207542472G>T	TOPMed
CR1	P17927	p.Val712Met	rs1425645053	missense variant	-	NC_000001.11:g.207542478G>A	TOPMed
CR1	P17927	p.Glu713Gln	rs1037377565	missense variant	-	NC_000001.11:g.207542481G>C	TOPMed,gnomAD
CR1	P17927	p.Gln717Arg	rs1303974495	missense variant	-	NC_000001.11:g.207542494A>G	TOPMed,gnomAD
CR1	P17927	p.Gln717Leu	rs1303974495	missense variant	-	NC_000001.11:g.207542494A>T	TOPMed,gnomAD
CR1	P17927	p.Val721Gly	rs1489913779	missense variant	-	NC_000001.11:g.207542506T>G	TOPMed
CR1	P17927	p.Met722Arg	rs1271255603	missense variant	-	NC_000001.11:g.207542509T>G	TOPMed
CR1	P17927	p.Met722Ile	rs1224487839	missense variant	-	NC_000001.11:g.207542510G>A	TOPMed
CR1	P17927	p.Lys723Arg	rs1440030856	missense variant	-	NC_000001.11:g.207542512A>G	gnomAD
CR1	P17927	p.Pro725Arg	rs1250705560	missense variant	-	NC_000001.11:g.207542518C>G	TOPMed
CR1	P17927	p.Pro725Thr	rs770022550	missense variant	-	NC_000001.11:g.207542517C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg726His	rs558851782	missense variant	-	NC_000001.11:g.207542521G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg726Cys	rs1251529011	missense variant	-	NC_000001.11:g.207542520C>T	TOPMed,gnomAD
CR1	P17927	p.Arg727His	rs1295642971	missense variant	-	NC_000001.11:g.207542524G>A	TOPMed
CR1	P17927	p.Val728Met	rs1330092581	missense variant	-	NC_000001.11:g.207542526G>A	gnomAD
CR1	P17927	p.Cys730Phe	rs1227950855	missense variant	-	NC_000001.11:g.207542533G>T	TOPMed,gnomAD
CR1	P17927	p.Pro738Gln	rs931665450	missense variant	-	NC_000001.11:g.207542557C>A	TOPMed,gnomAD
CR1	P17927	p.Pro738Leu	rs931665450	missense variant	-	NC_000001.11:g.207542557C>T	TOPMed,gnomAD
CR1	P17927	p.Glu739Gln	rs1370320669	missense variant	-	NC_000001.11:g.207542559G>C	TOPMed
CR1	P17927	p.Ser744Phe	rs1457117136	missense variant	-	NC_000001.11:g.207542575C>T	TOPMed,gnomAD
CR1	P17927	p.Arg745Lys	rs1355236699	missense variant	-	NC_000001.11:g.207542578G>A	TOPMed
CR1	P17927	p.Val746Ile	rs1160931928	missense variant	-	NC_000001.11:g.207542580G>A	gnomAD
CR1	P17927	p.Val746Ala	rs1422063204	missense variant	-	NC_000001.11:g.207563864T>C	gnomAD
CR1	P17927	p.Pro749Ser	rs1172663765	missense variant	-	NC_000001.11:g.207563872C>T	gnomAD
CR1	P17927	p.Pro750Ser	rs772748383	missense variant	-	NC_000001.11:g.207563875C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu757Lys	rs1306529247	missense variant	-	NC_000001.11:g.207563896G>A	gnomAD
CR1	P17927	p.Arg758Leu	rs770372494	missense variant	-	NC_000001.11:g.207563900G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg758His	rs770372494	missense variant	-	NC_000001.11:g.207563900G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg758Cys	rs746473308	missense variant	-	NC_000001.11:g.207563899C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr759Asn	rs776512609	missense variant	-	NC_000001.11:g.207563903C>A	ExAC,gnomAD
CR1	P17927	p.Arg761Lys	rs1215770381	missense variant	-	NC_000001.11:g.207563909G>A	gnomAD
CR1	P17927	p.Asp762Val	rs764994827	missense variant	-	NC_000001.11:g.207563912A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys763Asn	rs1341341110	missense variant	-	NC_000001.11:g.207563916G>T	gnomAD
CR1	P17927	p.Asp764Gly	rs775322428	missense variant	-	NC_000001.11:g.207563918A>G	ExAC,gnomAD
CR1	P17927	p.Pro768Leu	rs1282192185	missense variant	-	NC_000001.11:g.207563930C>T	gnomAD
CR1	P17927	p.Gly769Val	rs1346641257	missense variant	-	NC_000001.11:g.207563933G>T	TOPMed
CR1	P17927	p.Gly769Arg	rs767720284	missense variant	-	NC_000001.11:g.207563932G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser775Ile	rs1390911625	missense variant	-	NC_000001.11:g.207563951G>T	gnomAD
CR1	P17927	p.Pro778Thr	rs766604567	missense variant	-	NC_000001.11:g.207563959C>A	ExAC,gnomAD
CR1	P17927	p.Gly779Ser	rs375660602	missense variant	-	NC_000001.11:g.207563962G>A	ESP,TOPMed,gnomAD
CR1	P17927	p.Tyr780Cys	rs755596402	missense variant	-	NC_000001.11:g.207563966A>G	ExAC
CR1	P17927	p.Asp781Asn	rs1357020474	missense variant	-	NC_000001.11:g.207563968G>A	TOPMed,gnomAD
CR1	P17927	p.Ala785Ser	rs1227496417	missense variant	-	NC_000001.11:g.207563980G>T	gnomAD
CR1	P17927	p.Ala786Val	rs1320601581	missense variant	-	NC_000001.11:g.207563984C>T	TOPMed,gnomAD
CR1	P17927	p.Arg789Cys	rs753042039	missense variant	-	NC_000001.11:g.207563992C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg789His	rs201018148	missense variant	-	NC_000001.11:g.207563993G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys790Arg	rs1330754846	missense variant	-	NC_000001.11:g.207563995T>C	TOPMed,gnomAD
CR1	P17927	p.Pro792Thr	rs1276305457	missense variant	-	NC_000001.11:g.207564001C>A	gnomAD
CR1	P17927	p.Gly794Glu	rs561614144	missense variant	-	NC_000001.11:g.207564008G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly794Arg	rs1210895497	missense variant	-	NC_000001.11:g.207564007G>A	gnomAD
CR1	P17927	p.Asp795Glu	rs1464454973	missense variant	-	NC_000001.11:g.207564012C>G	TOPMed,gnomAD
CR1	P17927	p.Trp796Cys	rs770446264	missense variant	-	NC_000001.11:g.207564015G>C	ExAC,gnomAD
CR1	P17927	p.Ser797Asn	rs1248917378	missense variant	-	NC_000001.11:g.207564017G>A	gnomAD
CR1	P17927	p.Pro798Ser	rs1472841505	missense variant	-	NC_000001.11:g.207564019C>T	TOPMed
CR1	P17927	p.Ala799Val	rs1172333018	missense variant	-	NC_000001.11:g.207564023C>T	gnomAD
CR1	P17927	p.Pro801Ala	rs1464850502	missense variant	-	NC_000001.11:g.207564028C>G	TOPMed,gnomAD
CR1	P17927	p.Thr802Arg	rs745791931	missense variant	-	NC_000001.11:g.207564032C>G	ExAC,gnomAD
CR1	P17927	p.Thr802Ile	rs745791931	missense variant	-	NC_000001.11:g.207564032C>T	ExAC,gnomAD
CR1	P17927	p.Val805Ala	rs780677106	missense variant	-	NC_000001.11:g.207564132T>C	ExAC,gnomAD
CR1	P17927	p.Lys806Ter	rs1160988535	stop gained	-	NC_000001.11:g.207564134A>T	TOPMed
CR1	P17927	p.Lys806Thr	rs1034671714	missense variant	-	NC_000001.11:g.207564135A>C	TOPMed,gnomAD
CR1	P17927	p.Ser807Phe	rs1287510617	missense variant	-	NC_000001.11:g.207564138C>T	gnomAD
CR1	P17927	p.Asp810Gly	rs959893502	missense variant	-	NC_000001.11:g.207564147A>G	TOPMed
CR1	P17927	p.Met812Thr	rs1250324619	missense variant	-	NC_000001.11:g.207564153T>C	TOPMed
CR1	P17927	p.Met812Leu	rs552282176	missense variant	-	NC_000001.11:g.207564152A>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Met812Leu	rs552282176	missense variant	-	NC_000001.11:g.207564152A>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly813Asp	rs375592996	missense variant	-	NC_000001.11:g.207564156G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu816Phe	rs760943508	missense variant	-	NC_000001.11:g.207564164C>T	ExAC,gnomAD
CR1	P17927	p.Gly818Asp	rs777009868	missense variant	-	NC_000001.11:g.207564171G>A	ExAC,gnomAD
CR1	P17927	p.Gly818Val	rs777009868	missense variant	-	NC_000001.11:g.207564171G>T	ExAC,gnomAD
CR1	P17927	p.Arg819Cys	rs759642548	missense variant	-	NC_000001.11:g.207564173C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg819His	rs202041119	missense variant	-	NC_000001.11:g.207564174G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val820Gly	rs763421051	missense variant	-	NC_000001.11:g.207564177T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val820Leu	rs534738787	missense variant	-	NC_000001.11:g.207564176G>C	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Phe822Leu	rs1322350210	missense variant	-	NC_000001.11:g.207564184T>A	TOPMed
CR1	P17927	p.Phe822Ser	rs1330776023	missense variant	-	NC_000001.11:g.207564183T>C	gnomAD
CR1	P17927	p.Gln827Lys	rs1472141634	missense variant	-	NC_000001.11:g.207564197C>A	gnomAD
CR1	P17927	p.Gln827His	rs368907207	missense variant	-	NC_000001.11:g.207564199G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys831Arg	rs757631233	missense variant	-	NC_000001.11:g.207564210A>G	ExAC,gnomAD
CR1	P17927	p.Lys831Glu	rs751935590	missense variant	-	NC_000001.11:g.207564209A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val832Leu	rs767107915	missense variant	-	NC_000001.11:g.207564212G>C	ExAC,gnomAD
CR1	P17927	p.Asp837Asn	rs750106511	missense variant	-	NC_000001.11:g.207564227G>A	ExAC,gnomAD
CR1	P17927	p.Gly839Ala	rs1336336392	missense variant	-	NC_000001.11:g.207564234G>C	gnomAD
CR1	P17927	p.Phe840Cys	rs753215274	missense variant	-	NC_000001.11:g.207565840T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln841Arg	rs181688823	missense variant	-	NC_000001.11:g.207565843A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys843Arg	rs1306297051	missense variant	-	NC_000001.11:g.207565849A>G	gnomAD
CR1	P17927	p.Ser845Arg	rs778669699	missense variant	-	NC_000001.11:g.207565856C>A	ExAC,gnomAD
CR1	P17927	p.Ser846Pro	rs758240530	missense variant	-	NC_000001.11:g.207565857T>C	ExAC,gnomAD
CR1	P17927	p.Ser846Phe	rs199990810	missense variant	-	NC_000001.11:g.207565858C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser846Cys	rs199990810	missense variant	-	NC_000001.11:g.207565858C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala847Ser	rs1174374251	missense variant	-	NC_000001.11:g.207565860G>T	TOPMed,gnomAD
CR1	P17927	p.Leu852Phe	rs991603750	missense variant	-	NC_000001.11:g.207565877G>C	TOPMed
CR1	P17927	p.Ala853Thr	rs775786887	missense variant	-	NC_000001.11:g.207565878G>A	ExAC,gnomAD
CR1	P17927	p.Gly854Arg	rs1413770280	missense variant	-	NC_000001.11:g.207565881G>C	TOPMed,gnomAD
CR1	P17927	p.Gly854Val	rs1464911781	missense variant	-	NC_000001.11:g.207565882G>T	TOPMed,gnomAD
CR1	P17927	p.Met855Thr	rs1348639928	missense variant	-	NC_000001.11:g.207565885T>C	TOPMed
CR1	P17927	p.Met855Leu	rs774806895	missense variant	-	NC_000001.11:g.207565884A>T	ExAC,gnomAD
CR1	P17927	p.Glu856Lys	rs200885342	missense variant	-	NC_000001.11:g.207565887G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp859Cys	rs1240057615	missense variant	-	NC_000001.11:g.207565898G>C	TOPMed
CR1	P17927	p.Ser862Arg	rs971470532	missense variant	-	NC_000001.11:g.207565907T>G	TOPMed,gnomAD
CR1	P17927	p.Ser862Asn	rs761027851	missense variant	-	NC_000001.11:g.207565906G>A	ExAC,gnomAD
CR1	P17927	p.Val863Ile	rs765886000	missense variant	-	NC_000001.11:g.207565908G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro864Thr	rs201872183	missense variant	-	NC_000001.11:g.207565911C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro864Ser	rs201872183	missense variant	-	NC_000001.11:g.207565911C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu867Lys	rs1457796524	missense variant	-	NC_000001.11:g.207565920G>A	gnomAD
CR1	P17927	p.Gln868Ter	rs370291677	stop gained	-	NC_000001.11:g.207565923C>T	ESP,TOPMed,gnomAD
CR1	P17927	p.Gln868Lys	rs370291677	missense variant	-	NC_000001.11:g.207565923C>A	ESP,TOPMed,gnomAD
CR1	P17927	p.Ile869Met	rs773718302	missense variant	-	NC_000001.11:g.207567828C>G	ExAC
CR1	P17927	p.Ile869Asn	rs1221665821	missense variant	-	NC_000001.11:g.207567827T>A	gnomAD
CR1	P17927	p.Cys871Trp	rs760895493	missense variant	-	NC_000001.11:g.207567834T>G	ExAC,gnomAD
CR1	P17927	p.Cys871Gly	rs1264749949	missense variant	-	NC_000001.11:g.207567832T>G	gnomAD
CR1	P17927	p.Cys871Tyr	rs1489844815	missense variant	-	NC_000001.11:g.207567833G>A	gnomAD
CR1	P17927	p.Pro872Thr	rs771362085	missense variant	-	NC_000001.11:g.207567835C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro874Ser	rs1473041661	missense variant	-	NC_000001.11:g.207567841C>T	gnomAD
CR1	P17927	p.Pro875Ser	rs1181808330	missense variant	-	NC_000001.11:g.207567844C>T	TOPMed,gnomAD
CR1	P17927	p.Pro875Ala	rs1181808330	missense variant	-	NC_000001.11:g.207567844C>G	TOPMed,gnomAD
CR1	P17927	p.Val876Ala	rs149099494	missense variant	-	NC_000001.11:g.207567848T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile877Thr	rs1165614076	missense variant	-	NC_000001.11:g.207567851T>C	TOPMed,gnomAD
CR1	P17927	p.Ile877Val	rs368350236	missense variant	-	NC_000001.11:g.207567850A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn879Lys	rs372043685	missense variant	-	NC_000001.11:g.207567858T>G	ESP,TOPMed,gnomAD
CR1	P17927	p.Asn879Thr	rs1423351763	missense variant	-	NC_000001.11:g.207567857A>C	gnomAD
CR1	P17927	p.His882Tyr	rs201131753	missense variant	-	NC_000001.11:g.207567865C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His882Asn	rs201131753	missense variant	-	NC_000001.11:g.207567865C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His882Gln	rs762557988	missense variant	-	NC_000001.11:g.207567867C>A	ExAC,gnomAD
CR1	P17927	p.Lys885Arg	rs764066230	missense variant	-	NC_000001.11:g.207567875A>G	ExAC,gnomAD
CR1	P17927	p.Pro886Thr	rs751577790	missense variant	-	NC_000001.11:g.207567877C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro886Ser	rs751577790	missense variant	-	NC_000001.11:g.207567877C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu888Gln	rs1311448168	missense variant	-	NC_000001.11:g.207567883G>C	gnomAD
CR1	P17927	p.Val889Gly	rs1357146819	missense variant	-	NC_000001.11:g.207567887T>G	gnomAD
CR1	P17927	p.Pro891Arg	rs1275076141	missense variant	-	NC_000001.11:g.207567893C>G	gnomAD
CR1	P17927	p.Pro891Ser	rs372477607	missense variant	-	NC_000001.11:g.207567892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe892Ile	rs781087630	missense variant	-	NC_000001.11:g.207567895T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe892Leu	rs781087630	missense variant	-	NC_000001.11:g.207567895T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys894Thr	rs779108707	missense variant	-	NC_000001.11:g.207567902A>C	ExAC,gnomAD
CR1	P17927	p.Lys894Asn	rs748164192	missense variant	-	NC_000001.11:g.207567903A>C	ExAC,gnomAD
CR1	P17927	p.Ala895Thr	rs202021797	missense variant	-	NC_000001.11:g.207567904G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala895Glu	rs747595626	missense variant	-	NC_000001.11:g.207567905C>A	ExAC,gnomAD
CR1	P17927	p.Ala895Gly	rs747595626	missense variant	-	NC_000001.11:g.207567905C>G	ExAC,gnomAD
CR1	P17927	p.Ala895Pro	rs202021797	missense variant	-	NC_000001.11:g.207567904G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn897Ser	rs745504173	missense variant	-	NC_000001.11:g.207567911A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr899Ala	rs1391329090	missense variant	-	NC_000001.11:g.207567916A>G	gnomAD
CR1	P17927	p.Cys900Tyr	rs1015070666	missense variant	-	NC_000001.11:g.207567920G>A	TOPMed,gnomAD
CR1	P17927	p.Cys900Ter	rs374989718	stop gained	-	NC_000001.11:g.207567921C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys900Trp	rs374989718	missense variant	-	NC_000001.11:g.207567921C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys900Gly	rs775295497	missense variant	-	NC_000001.11:g.207567919T>G	ExAC,gnomAD
CR1	P17927	p.Asp901Tyr	rs571845275	missense variant	-	NC_000001.11:g.207567922G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp901Asn	rs571845275	missense variant	-	NC_000001.11:g.207567922G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp901Glu	rs761866338	missense variant	-	NC_000001.11:g.207567924C>A	ExAC,gnomAD
CR1	P17927	p.Pro902His	rs1183095958	missense variant	-	NC_000001.11:g.207567926C>A	TOPMed
CR1	P17927	p.His903Arg	rs767210068	missense variant	-	NC_000001.11:g.207567929A>G	ExAC
CR1	P17927	p.Pro904Arg	rs534360109	missense variant	-	NC_000001.11:g.207567932C>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp905Glu	rs1280533160	missense variant	-	NC_000001.11:g.207567936C>G	gnomAD
CR1	P17927	p.Asp905Asn	rs1212539706	missense variant	-	NC_000001.11:g.207567934G>A	gnomAD
CR1	P17927	p.Arg906Ser	rs1262040038	missense variant	-	NC_000001.11:g.207567939A>T	TOPMed
CR1	P17927	p.Thr908Met	rs370005351	missense variant	-	NC_000001.11:g.207567944C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp911Val	rs184230550	missense variant	-	NC_000001.11:g.207567953A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp911Asn	rs777884906	missense variant	-	NC_000001.11:g.207567952G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile913Thr	rs781556299	missense variant	-	NC_000001.11:g.207567959T>C	ExAC,gnomAD
CR1	P17927	p.Ile913Ser	rs781556299	missense variant	-	NC_000001.11:g.207567959T>G	ExAC,gnomAD
CR1	P17927	p.Ile913Val	rs1475400936	missense variant	-	NC_000001.11:g.207567958A>G	gnomAD
CR1	P17927	p.Glu915Asp	rs775251803	missense variant	-	NC_000001.11:g.207567966G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu915Gly	rs1363859112	missense variant	-	NC_000001.11:g.207567965A>G	TOPMed
CR1	P17927	p.Thr917Ile	rs768266054	missense variant	-	NC_000001.11:g.207567971C>T	ExAC,gnomAD
CR1	P17927	p.Thr917Pro	rs1458324453	missense variant	-	NC_000001.11:g.207567970A>C	gnomAD
CR1	P17927	p.Ile918Met	rs773977331	missense variant	-	NC_000001.11:g.207567975C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919Cys	rs761231049	missense variant	-	NC_000001.11:g.207567976C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919Ser	rs761231049	missense variant	-	NC_000001.11:g.207567976C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg919His	rs374276678	missense variant	-	NC_000001.11:g.207567977G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys920Gly	rs1367970413	missense variant	-	NC_000001.11:g.207567979T>G	gnomAD
CR1	P17927	p.Ser922Ile	rs1262700810	missense variant	-	NC_000001.11:g.207567986G>T	gnomAD
CR1	P17927	p.Pro924Ala	rs760418677	missense variant	-	NC_000001.11:g.207567991C>G	ExAC,gnomAD
CR1	P17927	p.Gln925Arg	rs1268890328	missense variant	-	NC_000001.11:g.207567995A>G	TOPMed,gnomAD
CR1	P17927	p.Gln925Lys	rs200795754	missense variant	-	NC_000001.11:g.207567994C>A	ExAC,gnomAD
CR1	P17927	p.Gly926Arg	rs752899033	missense variant	-	NC_000001.11:g.207567997G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn927Lys	rs1248982724	missense variant	-	NC_000001.11:g.207568002T>A	gnomAD
CR1	P17927	p.Pro933Ser	rs751591351	missense variant	-	NC_000001.11:g.207568018C>T	ExAC,gnomAD
CR1	P17927	p.Ala934Asp	rs757299511	missense variant	-	NC_000001.11:g.207568022C>A	ExAC,gnomAD
CR1	P17927	p.Arg936Cys	rs1191814074	missense variant	-	NC_000001.11:g.207568027C>T	TOPMed,gnomAD
CR1	P17927	p.Arg936His	rs746394762	missense variant	-	NC_000001.11:g.207568028G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile939Thr	rs377522648	missense variant	-	NC_000001.11:g.207568037T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly941Ser	rs1449928382	missense variant	-	NC_000001.11:g.207568042G>A	TOPMed,gnomAD
CR1	P17927	p.Lys1005Glu	rs1421917723	missense variant	-	NC_000001.11:g.207569858A>G	TOPMed
CR1	P17927	p.Pro1008Gln	rs1168646960	missense variant	-	NC_000001.11:g.207569868C>A	TOPMed
CR1	P17927	p.Val1011Gly	rs1245886273	missense variant	-	NC_000001.11:g.207569877T>G	TOPMed
CR1	P17927	p.Val1011Leu	rs953015213	missense variant	-	NC_000001.11:g.207569876G>T	TOPMed
CR1	P17927	p.Val1011Ala	rs1245886273	missense variant	-	NC_000001.11:g.207569877T>C	TOPMed
CR1	P17927	p.Gly1013Ala	rs1469757540	missense variant	-	NC_000001.11:g.207569883G>C	TOPMed
CR1	P17927	p.Val1015Ala	rs1253160229	missense variant	-	NC_000001.11:g.207569889T>C	TOPMed
CR1	P17927	p.Ile1018Val	rs1274705568	missense variant	-	NC_000001.11:g.207569897A>G	TOPMed
CR1	P17927	p.Ile1018Met	rs1214754336	missense variant	-	NC_000001.11:g.207569899C>G	TOPMed
CR1	P17927	p.Gln1022His	rs1344800847	missense variant	-	NC_000001.11:g.207569911G>T	TOPMed
CR1	P17927	p.Thr1033Ala	rs1273419682	missense variant	-	NC_000001.11:g.207569942A>G	TOPMed
CR1	P17927	p.Gly1034Glu	rs1336741853	missense variant	-	NC_000001.11:g.207569946G>A	TOPMed
CR1	P17927	p.Gly1034Val	rs1336741853	missense variant	-	NC_000001.11:g.207569946G>T	TOPMed
CR1	P17927	p.His1035Asn	rs1237612769	missense variant	-	NC_000001.11:g.207575596C>A	TOPMed,gnomAD
CR1	P17927	p.His1035Asp	rs1237612769	missense variant	-	NC_000001.11:g.207575596C>G	TOPMed,gnomAD
CR1	P17927	p.His1035Gln	rs747792543	missense variant	-	NC_000001.11:g.207575598C>G	ExAC,gnomAD
CR1	P17927	p.Arg1036Gln	rs777209480	missense variant	-	NC_000001.11:g.207575600G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1036Ter	rs771592989	stop gained	-	NC_000001.11:g.207575599C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1036Leu	rs777209480	missense variant	-	NC_000001.11:g.207575600G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1038Leu	rs770792733	missense variant	-	NC_000001.11:g.207575605A>C	ExAC,gnomAD
CR1	P17927	p.His1040Tyr	rs1408075849	missense variant	-	NC_000001.11:g.207575611C>T	TOPMed
CR1	P17927	p.His1040Gln	rs776564592	missense variant	-	NC_000001.11:g.207575613C>G	ExAC,gnomAD
CR1	P17927	p.Ser1042Ala	rs763763079	missense variant	-	NC_000001.11:g.207575617T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1042Pro	rs763763079	missense variant	-	NC_000001.11:g.207575617T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1044Gln	rs1459719681	missense variant	-	NC_000001.11:g.207575623G>C	TOPMed
CR1	P17927	p.Cys1045Arg	rs570846321	missense variant	-	NC_000001.11:g.207575626T>C	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ile1046Asn	rs201078030	missense variant	-	NC_000001.11:g.207575630T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1046Val	rs774602910	missense variant	-	NC_000001.11:g.207575629A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1048Leu	rs553365200	missense variant	-	NC_000001.11:g.207575636C>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly1049Asp	rs766940813	missense variant	-	NC_000001.11:g.207575639G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1049Val	rs766940813	missense variant	-	NC_000001.11:g.207575639G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1050Ser	rs754422784	missense variant	-	NC_000001.11:g.207575642A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1051Ala	rs755335900	missense variant	-	NC_000001.11:g.207575644A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1052Thr	rs779191296	missense variant	-	NC_000001.11:g.207575647G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.His1053Tyr	rs752383886	missense variant	-	NC_000001.11:g.207575650C>T	ExAC,gnomAD
CR1	P17927	p.His1053Gln	rs758055423	missense variant	-	NC_000001.11:g.207575652T>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.His1053Arg	rs1337602180	missense variant	-	NC_000001.11:g.207575651A>G	TOPMed
CR1	P17927	p.Ser1055Asn	rs777411818	missense variant	-	NC_000001.11:g.207575657G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1055Gly	rs1383957339	missense variant	-	NC_000001.11:g.207575656A>G	TOPMed
CR1	P17927	p.Thr1056Met	rs746467906	missense variant	-	NC_000001.11:g.207575660C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1056Lys	rs746467906	missense variant	-	NC_000001.11:g.207575660C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1057Asn	rs1367603804	missense variant	-	NC_000001.11:g.207575664G>T	gnomAD
CR1	P17927	p.Pro1058Leu	rs555835431	missense variant	-	NC_000001.11:g.207575666C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1058Ser	rs745847025	missense variant	-	NC_000001.11:g.207575665C>T	ExAC,gnomAD
CR1	P17927	p.Pro1059Arg	rs1383335271	missense variant	-	NC_000001.11:g.207575669C>G	gnomAD
CR1	P17927	p.Ile1060Thr	rs1386755543	missense variant	-	NC_000001.11:g.207575672T>C	TOPMed
CR1	P17927	p.Cys1061Gly	rs1187794880	missense variant	-	NC_000001.11:g.207575674T>G	TOPMed
CR1	P17927	p.Gln1062Lys	rs908445235	missense variant	-	NC_000001.11:g.207575677C>A	TOPMed,gnomAD
CR1	P17927	p.Gln1062Arg	rs1295283903	missense variant	-	NC_000001.11:g.207575678A>G	gnomAD
CR1	P17927	p.Arg1063Pro	rs1403506210	missense variant	-	NC_000001.11:g.207577805G>C	gnomAD
CR1	P17927	p.Arg1063Ter	rs374550920	stop gained	-	NC_000001.11:g.207575680C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1066Arg	rs1373648733	missense variant	-	NC_000001.11:g.207577813T>C	gnomAD
CR1	P17927	p.Gly1067Glu	rs1195986892	missense variant	-	NC_000001.11:g.207577817G>A	TOPMed
CR1	P17927	p.Pro1069Ser	rs764482737	missense variant	-	NC_000001.11:g.207577822C>T	ExAC,gnomAD
CR1	P17927	p.Pro1069His	rs1469308908	missense variant	-	NC_000001.11:g.207577823C>A	TOPMed
CR1	P17927	p.Pro1070Ser	rs756968920	missense variant	-	NC_000001.11:g.207577825C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1070Arg	rs767159288	missense variant	-	NC_000001.11:g.207577826C>G	ExAC,gnomAD
CR1	P17927	p.Thr1071Ala	rs779811757	missense variant	-	NC_000001.11:g.207577828A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1072Thr	rs754796360	missense variant	-	NC_000001.11:g.207577832T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1072Val	rs527886855	missense variant	-	NC_000001.11:g.207577831A>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ala1073Thr	rs187750583	missense variant	-	NC_000001.11:g.207577834G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1074Lys	rs1426065925	missense variant	-	NC_000001.11:g.207577839T>A	gnomAD
CR1	P17927	p.Gly1075Glu	rs781494007	missense variant	-	NC_000001.11:g.207577841G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1076Asn	rs745890450	missense variant	-	NC_000001.11:g.207577843G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1076His	rs745890450	missense variant	-	NC_000001.11:g.207577843G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1076Glu	rs1423089942	missense variant	-	NC_000001.11:g.207577845T>G	TOPMed,gnomAD
CR1	P17927	p.Ile1078Ser	rs1170902959	missense variant	-	NC_000001.11:g.207577850T>G	gnomAD
CR1	P17927	p.Ser1079Asn	rs1330653516	missense variant	-	NC_000001.11:g.207577853G>A	TOPMed
CR1	P17927	p.Arg1082Gly	rs1170650435	missense variant	-	NC_000001.11:g.207577861A>G	TOPMed
CR1	P17927	p.Glu1083Asp	rs561267294	missense variant	-	NC_000001.11:g.207577866G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1084Asp	rs768997678	missense variant	-	NC_000001.11:g.207577867A>G	ExAC,gnomAD
CR1	P17927	p.Asn1084Tyr	rs768997678	missense variant	-	NC_000001.11:g.207577867A>T	ExAC,gnomAD
CR1	P17927	p.His1086Arg	rs762177173	missense variant	-	NC_000001.11:g.207577874A>G	ExAC,gnomAD
CR1	P17927	p.TyrGly1087Ter	rs1412213267	stop gained	-	NC_000001.11:g.207577878_207577879del	gnomAD
CR1	P17927	p.Tyr1087Cys	rs767107916	missense variant	-	NC_000001.11:g.207577877A>G	ExAC,gnomAD
CR1	P17927	p.Gly1088Ter	rs1314240617	stop gained	-	NC_000001.11:g.207577879G>T	gnomAD
CR1	P17927	p.Tyr1093Cys	rs1454378623	missense variant	-	NC_000001.11:g.207577895A>G	TOPMed
CR1	P17927	p.Arg1094Cys	rs772782879	missense variant	-	NC_000001.11:g.207577897C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1094His	rs752485037	missense variant	-	NC_000001.11:g.207577898G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1095Ter	rs1184324442	stop gained	-	NC_000001.11:g.207577902C>A	gnomAD
CR1	P17927	p.Cys1095Tyr	rs758293909	missense variant	-	NC_000001.11:g.207577901G>A	ExAC,gnomAD
CR1	P17927	p.Asn1096Lys	rs781234907	missense variant	-	NC_000001.11:g.207577905T>A	ExAC,gnomAD
CR1	P17927	p.Asn1096LysArgTerValAspTerLeuTyrArgUnk	rs758851350	stop gained	-	NC_000001.11:g.207577904_207577905insAAGATGAGTAGACTGACTATATAGAG	ExAC
CR1	P17927	p.Leu1097Arg	rs200111726	missense variant	-	NC_000001.11:g.207577907T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1097Phe	rs746142277	missense variant	-	NC_000001.11:g.207577906C>T	ExAC
CR1	P17927	p.Leu1097Pro	rs200111726	missense variant	-	NC_000001.11:g.207577907T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1100Gly	rs202070239	missense variant	-	NC_000001.11:g.207577915A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1100Ile	rs769092015	missense variant	-	NC_000001.11:g.207577916G>T	ExAC,gnomAD
CR1	P17927	p.Arg1100Thr	rs769092015	missense variant	-	NC_000001.11:g.207577916G>C	ExAC,gnomAD
CR1	P17927	p.Gly1101Arg	rs1409764234	missense variant	-	NC_000001.11:g.207577918G>A	gnomAD
CR1	P17927	p.Lys1103Asn	rs774860182	missense variant	-	NC_000001.11:g.207577926G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1106Lys	rs762125782	missense variant	-	NC_000001.11:g.207577933G>A	ExAC,gnomAD
CR1	P17927	p.Leu1107Val	rs772522776	missense variant	-	NC_000001.11:g.207577936C>G	ExAC,gnomAD
CR1	P17927	p.Leu1107Phe	rs772522776	missense variant	-	NC_000001.11:g.207577936C>T	ExAC,gnomAD
CR1	P17927	p.Val1108Ala	rs1270543142	missense variant	-	NC_000001.11:g.207577940T>C	gnomAD
CR1	P17927	p.Gly1109Val	rs1282812707	missense variant	-	NC_000001.11:g.207577943G>T	TOPMed
CR1	P17927	p.Glu1110Lys	rs1212592417	missense variant	-	NC_000001.11:g.207577945G>A	gnomAD
CR1	P17927	p.Pro1111Leu	rs1293651285	missense variant	-	NC_000001.11:g.207577949C>T	gnomAD
CR1	P17927	p.Ile1113Val	rs984613445	missense variant	-	NC_000001.11:g.207577954A>G	TOPMed,gnomAD
CR1	P17927	p.Ile1113Met	rs765800008	missense variant	-	NC_000001.11:g.207577956A>G	ExAC,gnomAD
CR1	P17927	p.Tyr1114His	rs1262658729	missense variant	-	NC_000001.11:g.207577957T>C	gnomAD
CR1	P17927	p.Thr1116Pro	rs1308396686	missense variant	-	NC_000001.11:g.207577963A>C	TOPMed
CR1	P17927	p.Thr1116Ser	rs1389630111	missense variant	-	NC_000001.11:g.207577964C>G	TOPMed
CR1	P17927	p.Asn1118Lys	rs1460360122	missense variant	-	NC_000001.11:g.207577971T>A	TOPMed,gnomAD
CR1	P17927	p.Asn1118Asp	rs753325833	missense variant	-	NC_000001.11:g.207577969A>G	ExAC
CR1	P17927	p.Asp1119Gly	rs1243203429	missense variant	-	NC_000001.11:g.207577973A>G	TOPMed,gnomAD
CR1	P17927	p.Asp1120His	rs765221100	missense variant	-	NC_000001.11:g.207577975G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1120Tyr	rs765221100	missense variant	-	NC_000001.11:g.207577975G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1120Asn	rs765221100	missense variant	-	NC_000001.11:g.207577975G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1120Val	rs1314381180	missense variant	-	NC_000001.11:g.207577976A>T	TOPMed
CR1	P17927	p.Val1122Ala	rs758236755	missense variant	-	NC_000001.11:g.207577982T>C	ExAC,gnomAD
CR1	P17927	p.Val1122Gly	rs758236755	missense variant	-	NC_000001.11:g.207577982T>G	ExAC,gnomAD
CR1	P17927	p.Ile1124Met	rs750598422	missense variant	-	NC_000001.11:g.207577989C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1124Leu	rs1175086359	missense variant	-	NC_000001.11:g.207577987A>C	gnomAD
CR1	P17927	p.Trp1125Arg	rs756426946	missense variant	-	NC_000001.11:g.207577990T>A	ExAC,gnomAD
CR1	P17927	p.Ser1126Gly	rs1318816146	missense variant	-	NC_000001.11:g.207577993A>G	gnomAD
CR1	P17927	p.Gly1127Ser	rs749316044	missense variant	-	NC_000001.11:g.207577996G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1127Val	rs1295120917	missense variant	-	NC_000001.11:g.207577997G>T	gnomAD
CR1	P17927	p.Pro1128His	rs1421409370	missense variant	-	NC_000001.11:g.207578000C>A	TOPMed
CR1	P17927	p.Ala1129Val	rs1282898634	missense variant	-	NC_000001.11:g.207578003C>T	gnomAD
CR1	P17927	p.Ala1129Thr	rs201139679	missense variant	-	NC_000001.11:g.207578002G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1129Gly	rs1282898634	missense variant	-	NC_000001.11:g.207578003C>G	gnomAD
CR1	P17927	p.Ala1129Pro	rs201139679	missense variant	-	NC_000001.11:g.207578002G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1131His	rs1259840716	missense variant	-	NC_000001.11:g.207578010G>C	TOPMed
CR1	P17927	p.Cys1132Gly	rs1225565505	missense variant	-	NC_000001.11:g.207578011T>G	gnomAD
CR1	P17927	p.Cys1132Tyr	rs747336966	missense variant	-	NC_000001.11:g.207578012G>A	ExAC,gnomAD
CR1	P17927	p.Ile1134Thr	rs1052621279	missense variant	-	NC_000001.11:g.207578018T>C	TOPMed,gnomAD
CR1	P17927	p.Pro1135Ser	rs1214048976	missense variant	-	NC_000001.11:g.207578020C>T	gnomAD
CR1	P17927	p.Pro1135Leu	rs770561116	missense variant	-	NC_000001.11:g.207578021C>T	ExAC,gnomAD
CR1	P17927	p.Thr1139Arg	rs534561631	missense variant	-	NC_000001.11:g.207578033C>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1139Met	rs534561631	missense variant	-	NC_000001.11:g.207578033C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1141Leu	rs1043874726	missense variant	-	NC_000001.11:g.207578039C>T	TOPMed,gnomAD
CR1	P17927	p.Asn1145Asp	rs1266340909	missense variant	-	NC_000001.11:g.207578050A>G	gnomAD
CR1	P17927	p.Gly1146Arg	rs775546714	missense variant	-	NC_000001.11:g.207578053G>A	ExAC,gnomAD
CR1	P17927	p.Gly1146Glu	rs1158666652	missense variant	-	NC_000001.11:g.207578054G>A	gnomAD
CR1	P17927	p.Ile1147Thr	rs193112197	missense variant	-	NC_000001.11:g.207578057T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1148Ser	rs763794161	missense variant	-	NC_000001.11:g.207578060T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1150Cys	rs757023579	missense variant	-	NC_000001.11:g.207578066C>G	ExAC,gnomAD
CR1	P17927	p.Asp1151Gly	rs1302737744	missense variant	-	NC_000001.11:g.207578069A>G	TOPMed,gnomAD
CR1	P17927	p.Asn1152Asp	rs372881623	missense variant	-	NC_000001.11:g.207578071A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1153Ile	rs754099919	missense variant	-	NC_000001.11:g.207578075G>T	ExAC,gnomAD
CR1	P17927	p.Arg1153Gly	rs1444432198	missense variant	-	NC_000001.11:g.207578074A>G	gnomAD
CR1	P17927	p.Ser1154Thr	rs755023746	missense variant	-	NC_000001.11:g.207578078G>C	ExAC,gnomAD
CR1	P17927	p.Asn1159Lys	rs779018569	missense variant	-	NC_000001.11:g.207578094T>G	ExAC,gnomAD
CR1	P17927	p.Asn1159Ser	rs1002257467	missense variant	-	NC_000001.11:g.207578093A>G	TOPMed
CR1	P17927	p.Val1161Gly	rs200347439	missense variant	-	NC_000001.11:g.207578099T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1170Ile	rs758870432	missense variant	-	NC_000001.11:g.207578125T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1171Phe	rs1222260909	missense variant	-	NC_000001.11:g.207578128G>T	gnomAD
CR1	P17927	p.Val1171Gly	rs1266265194	missense variant	-	NC_000001.11:g.207578129T>G	gnomAD
CR1	P17927	p.Lys1173Glu	rs778158566	missense variant	-	NC_000001.11:g.207578134A>G	ExAC,gnomAD
CR1	P17927	p.Lys1173Arg	rs1181867961	missense variant	-	NC_000001.11:g.207578135A>G	TOPMed,gnomAD
CR1	P17927	p.Lys1173Asn	rs747352862	missense variant	-	NC_000001.11:g.207578136A>T	ExAC,gnomAD
CR1	P17927	p.Pro1175Ser	rs771234874	missense variant	-	NC_000001.11:g.207578140C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1175Thr	rs771234874	missense variant	-	NC_000001.11:g.207578140C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1176Cys	rs776396416	missense variant	-	NC_000001.11:g.207578143C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1176His	rs61297619	missense variant	-	NC_000001.11:g.207578144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1177Cys	rs769416269	missense variant	-	NC_000001.11:g.207578146C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1177His	rs532533959	missense variant	-	NC_000001.11:g.207578147G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1178Met	rs1329610747	missense variant	-	NC_000001.11:g.207578149G>A	gnomAD
CR1	P17927	p.Lys1179Gln	rs1371411457	missense variant	-	NC_000001.11:g.207578152A>C	TOPMed,gnomAD
CR1	P17927	p.Cys1180Tyr	rs762375862	missense variant	-	NC_000001.11:g.207578156G>A	ExAC,gnomAD
CR1	P17927	p.Gln1181Arg	rs764041246	missense variant	-	NC_000001.11:g.207578159A>G	ExAC,gnomAD
CR1	P17927	p.Gln1181Leu	rs764041246	missense variant	-	NC_000001.11:g.207578159A>T	ExAC,gnomAD
CR1	P17927	p.Ala1182Thr	rs761637384	missense variant	-	NC_000001.11:g.207578161G>A	ExAC,gnomAD
CR1	P17927	p.Trp1186Ser	rs1026222975	missense variant	-	NC_000001.11:g.207578174G>C	TOPMed
CR1	P17927	p.Pro1188Thr	rs1296549315	missense variant	-	NC_000001.11:g.207578179C>A	TOPMed,gnomAD
CR1	P17927	p.Pro1191Ser	rs1290093963	missense variant	-	NC_000001.11:g.207578188C>T	gnomAD
CR1	P17927	p.Pro1191Gln	rs1230422490	missense variant	-	NC_000001.11:g.207578189C>A	gnomAD
CR1	P17927	p.Ser1192Gly	rs1341035454	missense variant	-	NC_000001.11:g.207578191A>G	gnomAD
CR1	P17927	p.Arg1195Ser	rs1271856175	missense variant	-	NC_000001.11:g.207578202G>T	gnomAD
CR1	P17927	p.Val1196Ala	rs1318119342	missense variant	-	NC_000001.11:g.207580240T>C	TOPMed,gnomAD
CR1	P17927	p.Val1196Leu	rs1435525629	missense variant	-	NC_000001.11:g.207578203G>T	gnomAD
CR1	P17927	p.Val1196Glu	rs1318119342	missense variant	-	NC_000001.11:g.207580240T>A	TOPMed,gnomAD
CR1	P17927	p.Cys1197Gly	rs1182589727	missense variant	-	NC_000001.11:g.207580242T>G	TOPMed
CR1	P17927	p.Cys1197Tyr	rs1391120629	missense variant	-	NC_000001.11:g.207580243G>A	TOPMed,gnomAD
CR1	P17927	p.Gln1198His	rs1337954518	missense variant	-	NC_000001.11:g.207580247G>C	TOPMed,gnomAD
CR1	P17927	p.Pro1199Leu	rs147654348	missense variant	-	NC_000001.11:g.207580249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1201Leu	rs779818824	missense variant	-	NC_000001.11:g.207580255C>T	ExAC,gnomAD
CR1	P17927	p.Ile1203Thr	rs1268320980	missense variant	-	NC_000001.11:g.207580261T>C	TOPMed
CR1	P17927	p.Gly1206Asp	rs768195052	missense variant	-	NC_000001.11:g.207580270G>A	ExAC,gnomAD
CR1	P17927	p.Gly1206Ala	rs768195052	missense variant	-	NC_000001.11:g.207580270G>C	ExAC,gnomAD
CR1	P17927	p.Glu1207Lys	rs568448743	missense variant	-	NC_000001.11:g.207580272G>A	1000Genomes,TOPMed,gnomAD
CR1	P17927	p.His1208Arg	rs2274567	missense variant	-	NC_000001.11:g.207580276A>G	UniProt,dbSNP
CR1	P17927	p.His1208Arg	VAR_013819	missense variant	-	NC_000001.11:g.207580276A>G	UniProt
CR1	P17927	p.His1208Arg	rs2274567	missense variant	-	NC_000001.11:g.207580276A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1208Tyr	rs778352919	missense variant	-	NC_000001.11:g.207580275C>T	ExAC,gnomAD
CR1	P17927	p.Pro1210Leu	rs771937604	missense variant	-	NC_000001.11:g.207580282C>T	ExAC,gnomAD
CR1	P17927	p.Asp1214Glu	rs1228449396	missense variant	-	NC_000001.11:g.207580295C>G	TOPMed
CR1	P17927	p.Asn1215Lys	rs141954836	missense variant	-	NC_000001.11:g.207580298C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1217Ala	rs1158339739	missense variant	-	NC_000001.11:g.207580302T>G	gnomAD
CR1	P17927	p.Pro1218Arg	rs1407154782	missense variant	-	NC_000001.11:g.207580306C>G	gnomAD
CR1	P17927	p.Pro1218Ser	rs770754228	missense variant	-	NC_000001.11:g.207580305C>T	ExAC,gnomAD
CR1	P17927	p.Gly1219Arg	rs1437672373	missense variant	-	NC_000001.11:g.207580308G>A	TOPMed
CR1	P17927	p.Gly1219Glu	rs775760258	missense variant	-	NC_000001.11:g.207580309G>A	ExAC,gnomAD
CR1	P17927	p.Ser1225Thr	rs1325396913	missense variant	-	NC_000001.11:g.207580327G>C	TOPMed
CR1	P17927	p.Ser1225Gly	rs199540863	missense variant	-	NC_000001.11:g.207580326A>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Glu1227Asp	rs764234206	missense variant	-	NC_000001.11:g.207580334G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1228Thr	rs1370479963	missense variant	-	NC_000001.11:g.207580335C>A	TOPMed
CR1	P17927	p.Tyr1230His	rs762000312	missense variant	-	NC_000001.11:g.207580341T>C	ExAC,gnomAD
CR1	P17927	p.Asp1231Gly	rs1283818647	missense variant	-	NC_000001.11:g.207580345A>G	TOPMed,gnomAD
CR1	P17927	p.Leu1232Phe	rs1222977501	missense variant	-	NC_000001.11:g.207580347C>T	TOPMed,gnomAD
CR1	P17927	p.Arg1233Thr	rs899385543	missense variant	-	NC_000001.11:g.207580351G>C	TOPMed
CR1	P17927	p.Ala1235Val	rs756522188	missense variant	-	NC_000001.11:g.207580357C>T	ExAC,gnomAD
CR1	P17927	p.Ala1235Ser	rs1189542902	missense variant	-	NC_000001.11:g.207580356G>T	TOPMed,gnomAD
CR1	P17927	p.Ala1235Thr	rs1189542902	missense variant	-	NC_000001.11:g.207580356G>A	TOPMed,gnomAD
CR1	P17927	p.Ala1236Val	rs539603642	missense variant	-	NC_000001.11:g.207580360C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1236Glu	rs539603642	missense variant	-	NC_000001.11:g.207580360C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1236Thr	rs766708027	missense variant	-	NC_000001.11:g.207580359G>A	ExAC,gnomAD
CR1	P17927	p.Cys1240Arg	rs1306443898	missense variant	-	NC_000001.11:g.207580371T>C	TOPMed
CR1	P17927	p.Gly1244Val	rs747606332	missense variant	-	NC_000001.11:g.207580384G>T	ExAC,gnomAD
CR1	P17927	p.Trp1246Cys	rs1029077663	missense variant	-	NC_000001.11:g.207580391G>T	TOPMed
CR1	P17927	p.Ala1250Thr	rs1299375945	missense variant	-	NC_000001.11:g.207580401G>A	gnomAD
CR1	P17927	p.Pro1251Leu	rs368172549	missense variant	-	NC_000001.11:g.207580405C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1254Ser	rs770700783	missense variant	-	NC_000001.11:g.207580413G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1254Glu	rs776361283	missense variant	-	NC_000001.11:g.207580414C>A	ExAC,gnomAD
CR1	P17927	p.Phe1261Ile	rs1482459919	missense variant	-	NC_000001.11:g.207580528T>A	gnomAD
CR1	P17927	p.Phe1261Leu	rs1188706782	missense variant	-	NC_000001.11:g.207580530C>A	TOPMed,gnomAD
CR1	P17927	p.Leu1262Ser	rs772270332	missense variant	-	NC_000001.11:g.207580532T>C	ExAC,gnomAD
CR1	P17927	p.Gly1263Arg	rs1477327262	missense variant	-	NC_000001.11:g.207580534G>C	gnomAD
CR1	P17927	p.Leu1265Phe	rs773359118	missense variant	-	NC_000001.11:g.207580540C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1268Val	rs372833120	missense variant	-	NC_000001.11:g.207580550G>T	ESP,ExAC,gnomAD
CR1	P17927	p.Arg1269Cys	rs376975386	missense variant	-	NC_000001.11:g.207580552C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1269His	rs369632766	missense variant	-	NC_000001.11:g.207580553G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1270Met	rs1399695339	missense variant	-	NC_000001.11:g.207580555G>A	TOPMed,gnomAD
CR1	P17927	p.Pro1273Arg	rs752333319	missense variant	-	NC_000001.11:g.207580565C>G	ExAC,gnomAD
CR1	P17927	p.Leu1274Arg	rs1325680043	missense variant	-	NC_000001.11:g.207580568T>G	gnomAD
CR1	P17927	p.Asn1275Ile	rs762660563	missense variant	-	NC_000001.11:g.207580571A>T	ExAC,gnomAD
CR1	P17927	p.Leu1278Pro	rs763744346	missense variant	-	NC_000001.11:g.207580580T>C	ExAC,gnomAD
CR1	P17927	p.Gly1279Val	rs751016624	missense variant	-	NC_000001.11:g.207580583G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1279Glu	rs751016624	missense variant	-	NC_000001.11:g.207580583G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1280Ser	rs780954124	missense variant	-	NC_000001.11:g.207580585G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1280Glu	rs750420622	missense variant	-	NC_000001.11:g.207580586C>A	ExAC,gnomAD
CR1	P17927	p.Lys1281Thr	rs755846047	missense variant	-	NC_000001.11:g.207580589A>C	ExAC,gnomAD
CR1	P17927	p.Lys1281Gln	rs1190970630	missense variant	-	NC_000001.11:g.207580588A>C	gnomAD
CR1	P17927	p.Ser1283Tyr	rs780364837	missense variant	-	NC_000001.11:g.207580595C>A	ExAC,gnomAD
CR1	P17927	p.Cys1286Tyr	rs778163453	missense variant	-	NC_000001.11:g.207580604G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1287Asn	rs1344330313	missense variant	-	NC_000001.11:g.207580606G>A	gnomAD
CR1	P17927	p.Glu1288Asp	rs1409265368	missense variant	-	NC_000001.11:g.207580611A>C	TOPMed
CR1	P17927	p.Phe1290Ser	rs1439006454	missense variant	-	NC_000001.11:g.207581920T>C	TOPMed,gnomAD
CR1	P17927	p.Arg1291His	rs772031309	missense variant	-	NC_000001.11:g.207581923G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1291Pro	rs772031309	missense variant	-	NC_000001.11:g.207581923G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1291Cys	rs534155454	missense variant	-	NC_000001.11:g.207581922C>T	ExAC,gnomAD
CR1	P17927	p.Leu1292Ser	rs749615846	missense variant	-	NC_000001.11:g.207581926T>C	ExAC,gnomAD
CR1	P17927	p.Gly1294Asp	rs773976185	missense variant	-	NC_000001.11:g.207581932G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1297Ile	rs200884156	missense variant	-	NC_000001.11:g.207581940G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1300Trp	rs1332177319	missense variant	-	NC_000001.11:g.207581951T>G	gnomAD
CR1	P17927	p.Cys1300Gly	rs1271611232	missense variant	-	NC_000001.11:g.207581949T>G	TOPMed
CR1	P17927	p.Val1303Phe	rs772716917	missense variant	-	NC_000001.11:g.207581958G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1303Ile	rs772716917	missense variant	-	NC_000001.11:g.207581958G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1306Thr	rs375298677	missense variant	-	NC_000001.11:g.207581968G>C	ESP,ExAC,gnomAD
CR1	P17927	p.Ser1307Thr	rs754796667	missense variant	-	NC_000001.11:g.207581971G>C	ExAC,gnomAD
CR1	P17927	p.Ser1307Arg	rs765182428	missense variant	-	NC_000001.11:g.207581972C>A	ExAC,gnomAD
CR1	P17927	p.Trp1309Arg	rs1483053926	missense variant	-	NC_000001.11:g.207581976T>C	TOPMed
CR1	P17927	p.Ser1312Asn	rs757433947	missense variant	-	NC_000001.11:g.207581986G>A	ExAC,gnomAD
CR1	P17927	p.Pro1314Ser	rs999675652	missense variant	-	NC_000001.11:g.207581991C>T	TOPMed,gnomAD
CR1	P17927	p.His1318Leu	rs758153459	missense variant	-	NC_000001.11:g.207584649A>T	ExAC,gnomAD
CR1	P17927	p.His1318Arg	rs758153459	missense variant	-	NC_000001.11:g.207584649A>G	ExAC,gnomAD
CR1	P17927	p.His1318Tyr	rs201880876	missense variant	-	NC_000001.11:g.207582003C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1319Thr	rs767742956	missense variant	-	NC_000001.11:g.207584652T>C	ExAC,gnomAD
CR1	P17927	p.Ile1319Asn	rs767742956	missense variant	-	NC_000001.11:g.207584652T>A	ExAC,gnomAD
CR1	P17927	p.Phe1320Ile	rs1188554576	missense variant	-	NC_000001.11:g.207584654T>A	TOPMed
CR1	P17927	p.Cys1321Ter	rs750654400	stop gained	-	NC_000001.11:g.207584659T>A	ExAC,gnomAD
CR1	P17927	p.Pro1322Thr	rs1378690568	missense variant	-	NC_000001.11:g.207584660C>A	gnomAD
CR1	P17927	p.Pro1322Ser	rs1378690568	missense variant	-	NC_000001.11:g.207584660C>T	gnomAD
CR1	P17927	p.Pro1322Gln	rs756168060	missense variant	-	NC_000001.11:g.207584661C>A	ExAC,gnomAD
CR1	P17927	p.Ala1326Ser	rs1387510234	missense variant	-	NC_000001.11:g.207584672G>T	gnomAD
CR1	P17927	p.Ile1327Leu	rs753917143	missense variant	-	NC_000001.11:g.207584675A>C	ExAC,gnomAD
CR1	P17927	p.Ile1327Thr	rs1297147019	missense variant	-	NC_000001.11:g.207584676T>C	gnomAD
CR1	P17927	p.Arg1331Lys	rs1406213894	missense variant	-	NC_000001.11:g.207584688G>A	gnomAD
CR1	P17927	p.His1332Tyr	rs779307539	missense variant	-	NC_000001.11:g.207584690C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1333Ala	rs748505080	missense variant	-	NC_000001.11:g.207584693A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1333Lys	rs772363143	missense variant	-	NC_000001.11:g.207584694C>A	ExAC,gnomAD
CR1	P17927	p.Thr1335Asn	rs777457095	missense variant	-	NC_000001.11:g.207584700C>A	ExAC,gnomAD
CR1	P17927	p.Pro1336Leu	rs746715976	missense variant	-	NC_000001.11:g.207584703C>T	ExAC,gnomAD
CR1	P17927	p.Pro1336Ala	rs1354101840	missense variant	-	NC_000001.11:g.207584702C>G	gnomAD
CR1	P17927	p.Asp1339Glu	rs1285555817	missense variant	-	NC_000001.11:g.207584713T>A	gnomAD
CR1	P17927	p.Pro1341Leu	rs776215792	missense variant	-	NC_000001.11:g.207584718C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1341Ser	rs770561633	missense variant	-	NC_000001.11:g.207584717C>T	ExAC,gnomAD
CR1	P17927	p.Pro1341Arg	rs776215792	missense variant	-	NC_000001.11:g.207584718C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr1342Ser	rs752282568	missense variant	-	NC_000001.11:g.207584721A>C	TOPMed,gnomAD
CR1	P17927	p.Gly1343Ala	rs759130591	missense variant	-	NC_000001.11:g.207584724G>C	ExAC,gnomAD
CR1	P17927	p.Ile1346Val	rs1341724706	missense variant	-	NC_000001.11:g.207584732A>G	TOPMed
CR1	P17927	p.Ser1347Thr	rs769723094	missense variant	-	NC_000001.11:g.207584735T>A	ExAC,gnomAD
CR1	P17927	p.Tyr1348Ser	rs1440675443	missense variant	-	NC_000001.11:g.207584739A>C	gnomAD
CR1	P17927	p.Thr1349Ile	rs1358225488	missense variant	-	NC_000001.11:g.207584742C>T	gnomAD
CR1	P17927	p.Cys1350Ser	rs1312864919	missense variant	-	NC_000001.11:g.207584744T>A	TOPMed
CR1	P17927	p.Asp1351Glu	rs938044503	missense variant	-	NC_000001.11:g.207584749C>A	TOPMed,gnomAD
CR1	P17927	p.Pro1352Ser	rs915609384	missense variant	-	NC_000001.11:g.207584750C>T	-
CR1	P17927	p.Gly1357Trp	rs762783325	missense variant	-	NC_000001.11:g.207584765G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1357Arg	rs762783325	missense variant	-	NC_000001.11:g.207584765G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1359Asn	rs541225690	missense variant	-	NC_000001.11:g.207584772C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1361Lys	rs1377622516	missense variant	-	NC_000001.11:g.207584779C>A	gnomAD
CR1	P17927	p.Leu1362Ile	rs1239127035	missense variant	-	NC_000001.11:g.207584780C>A	gnomAD
CR1	P17927	p.Ile1363Ser	rs199598381	missense variant	-	NC_000001.11:g.207584784T>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1363Thr	rs199598381	missense variant	-	NC_000001.11:g.207584784T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1363Val	rs766599172	missense variant	-	NC_000001.11:g.207584783A>G	ExAC,gnomAD
CR1	P17927	p.Ile1368Thr	rs1459694440	missense variant	-	NC_000001.11:g.207584799T>C	TOPMed
CR1	P17927	p.Arg1369His	rs758774471	missense variant	-	NC_000001.11:g.207584802G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1369Cys	rs753192761	missense variant	-	NC_000001.11:g.207584801C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1370Tyr	rs1260973761	missense variant	-	NC_000001.11:g.207584805G>A	TOPMed
CR1	P17927	p.Cys1370Arg	rs778066743	missense variant	-	NC_000001.11:g.207584804T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1374Leu	rs747384502	missense variant	-	NC_000001.11:g.207584817C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.His1375Arg	rs998252826	missense variant	-	NC_000001.11:g.207584820A>G	gnomAD
CR1	P17927	p.Gly1378Arg	rs1367555644	missense variant	-	NC_000001.11:g.207584828G>A	gnomAD
CR1	P17927	p.Gly1378Ala	rs781014972	missense variant	-	NC_000001.11:g.207584829G>C	ExAC,TOPMed
CR1	P17927	p.Val1379Ile	rs372603184	missense variant	-	NC_000001.11:g.207584831G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1381Arg	rs769231887	missense variant	-	NC_000001.11:g.207584839C>A	ExAC,gnomAD
CR1	P17927	p.Ser1382Asn	rs574578676	missense variant	-	NC_000001.11:g.207584841G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1386His	rs180889860	missense variant	-	NC_000001.11:g.207584853G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1386Ser	rs762859978	missense variant	-	NC_000001.11:g.207584852C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1386Leu	rs180889860	missense variant	-	NC_000001.11:g.207584853G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1386Cys	rs762859978	missense variant	-	NC_000001.11:g.207584852C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1389Pro	rs1217503383	missense variant	-	NC_000001.11:g.207584862T>C	TOPMed
CR1	P17927	p.Arg1392Cys	rs766544117	missense variant	-	NC_000001.11:g.207584870C>T	ExAC,gnomAD
CR1	P17927	p.Arg1392His	rs200621891	missense variant	-	NC_000001.11:g.207584871G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1392Leu	rs200621891	missense variant	-	NC_000001.11:g.207584871G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1400Lys	rs1222143870	missense variant	-	NC_000001.11:g.207587403G>A	TOPMed
CR1	P17927	p.Pro1403Thr	rs1041763191	missense variant	-	NC_000001.11:g.207587412C>A	TOPMed
CR1	P17927	p.Ser1406Arg	rs1357145728	missense variant	-	NC_000001.11:g.207587421A>C	TOPMed,gnomAD
CR1	P17927	p.Thr1408Met	rs3737002	missense variant	-	NC_000001.11:g.207587428C>T	UniProt,dbSNP
CR1	P17927	p.Thr1408Met	VAR_020263	missense variant	-	NC_000001.11:g.207587428C>T	UniProt
CR1	P17927	p.Thr1408Met	rs3737002	missense variant	-	NC_000001.11:g.207587428C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1408Ser	rs61734514	missense variant	-	NC_000001.11:g.207587427A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1408Ala	rs61734514	missense variant	-	NC_000001.11:g.207587427A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1408Ile	VAR_013820	Missense	-	-	UniProt
CR1	P17927	p.Ile1409Val	rs771849735	missense variant	-	NC_000001.11:g.207587430A>G	ExAC,gnomAD
CR1	P17927	p.Ile1411Val	rs772924634	missense variant	-	NC_000001.11:g.207587436A>G	ExAC,gnomAD
CR1	P17927	p.Phe1414Val	rs746835144	missense variant	-	NC_000001.11:g.207587445T>G	ExAC,gnomAD
CR1	P17927	p.Phe1416Leu	rs1398437815	missense variant	-	NC_000001.11:g.207587453T>G	TOPMed
CR1	P17927	p.Gly1419Arg	rs191896925	missense variant	-	NC_000001.11:g.207587460G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1420Lys	rs764321659	missense variant	-	NC_000001.11:g.207587464C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1420Ile	rs764321659	missense variant	-	NC_000001.11:g.207587464C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1425Asp	rs1473208393	missense variant	-	NC_000001.11:g.207587480A>T	TOPMed
CR1	P17927	p.Cys1426Tyr	rs376393868	missense variant	-	NC_000001.11:g.207587482G>A	ESP,ExAC,gnomAD
CR1	P17927	p.Arg1427His	rs373049995	missense variant	-	NC_000001.11:g.207587485G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1427Cys	rs371604171	missense variant	-	NC_000001.11:g.207587484C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1428Ala	rs377376915	missense variant	-	NC_000001.11:g.207587487C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1428Ser	rs377376915	missense variant	-	NC_000001.11:g.207587487C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1431Ser	rs754470032	missense variant	-	NC_000001.11:g.207587497T>C	ExAC,gnomAD
CR1	P17927	p.Met1434Ile	rs140566582	missense variant	-	NC_000001.11:g.207587507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1434Thr	rs1296600917	missense variant	-	NC_000001.11:g.207587506T>C	gnomAD
CR1	P17927	p.Phe1435Leu	rs758273020	missense variant	-	NC_000001.11:g.207587508T>C	ExAC,gnomAD
CR1	P17927	p.Ile1437Ser	rs1334108927	missense variant	-	NC_000001.11:g.207587515T>G	TOPMed
CR1	P17927	p.Ile1437Val	rs375303129	missense variant	-	NC_000001.11:g.207587514A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1438Phe	rs760533167	missense variant	-	NC_000001.11:g.207587518C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1438Pro	rs746742487	missense variant	-	NC_000001.11:g.207587517T>C	ExAC,gnomAD
CR1	P17927	p.Asn1442Tyr	rs780119469	missense variant	-	NC_000001.11:g.207587529A>T	ExAC,gnomAD
CR1	P17927	p.Val1444Leu	rs1379691879	missense variant	-	NC_000001.11:g.207587535G>C	TOPMed
CR1	P17927	p.Trp1445Ter	rs1237422285	stop gained	-	NC_000001.11:g.207587540G>A	gnomAD
CR1	P17927	p.Glu1449Gly	rs768856371	missense variant	-	NC_000001.11:g.207587551A>G	ExAC,gnomAD
CR1	P17927	p.Asp1450Glu	rs774509906	missense variant	-	NC_000001.11:g.207587555C>G	ExAC,gnomAD
CR1	P17927	p.Arg1454Ter	rs772663179	stop gained	-	NC_000001.11:g.207587565C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1456Pro	rs1415681711	missense variant	-	NC_000001.11:g.207588680T>C	gnomAD
CR1	P17927	p.Gly1458Glu	rs764830223	missense variant	-	NC_000001.11:g.207588687G>A	ExAC,gnomAD
CR1	P17927	p.Pro1461Ser	rs994545485	missense variant	-	NC_000001.11:g.207588695C>T	TOPMed
CR1	P17927	p.Asn1465Ser	rs775164766	missense variant	-	NC_000001.11:g.207588708A>G	ExAC,gnomAD
CR1	P17927	p.Gly1466Arg	rs763721189	missense variant	-	NC_000001.11:g.207588710G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1467Ile	rs751449981	missense variant	-	NC_000001.11:g.207588715G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1467Ile	rs751449981	missense variant	-	NC_000001.11:g.207588715G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1468Met	rs764234936	missense variant	-	NC_000001.11:g.207588716G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1468Leu	rs764234936	missense variant	-	NC_000001.11:g.207588716G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1470Val	rs374969058	missense variant	-	NC_000001.11:g.207588722A>G	ESP,TOPMed,gnomAD
CR1	P17927	p.Asn1471Ile	rs750199221	missense variant	-	NC_000001.11:g.207588726A>T	ExAC,gnomAD
CR1	P17927	p.Gln1475Ter	rs756008385	stop gained	-	NC_000001.11:g.207588737C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1479Ile	rs200076672	missense variant	-	NC_000001.11:g.207588750C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1480Ile	rs1201946731	missense variant	-	NC_000001.11:g.207588752G>A	TOPMed,gnomAD
CR1	P17927	p.Asn1481Ser	rs1278996767	missense variant	-	NC_000001.11:g.207588756A>G	gnomAD
CR1	P17927	p.Gly1487Val	rs1451376441	missense variant	-	NC_000001.11:g.207588774G>T	TOPMed
CR1	P17927	p.Arg1489Leu	rs568081345	missense variant	-	NC_000001.11:g.207607256G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1489Gln	rs568081345	missense variant	-	NC_000001.11:g.207607256G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1489Ter	rs778591697	stop gained	-	NC_000001.11:g.207607255C>T	ExAC,gnomAD
CR1	P17927	p.Gly1492Val	rs1477895048	missense variant	-	NC_000001.11:g.207607265G>T	gnomAD
CR1	P17927	p.Thr1497Ile	rs746434908	missense variant	-	NC_000001.11:g.207607280C>T	ExAC,gnomAD
CR1	P17927	p.Leu1499Ile	rs770142826	missense variant	-	NC_000001.11:g.207607285C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1499Phe	rs770142826	missense variant	-	NC_000001.11:g.207607285C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1500Phe	rs749631959	missense variant	-	NC_000001.11:g.207607288G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1500Ile	rs749631959	missense variant	-	NC_000001.11:g.207607288G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1503Ser	rs773911565	missense variant	-	NC_000001.11:g.207607298A>G	ExAC,gnomAD
CR1	P17927	p.Val1505Ile	rs1231788014	missense variant	-	NC_000001.11:g.207607303G>A	gnomAD
CR1	P17927	p.Lys1510Ter	rs1311272096	stop gained	-	NC_000001.11:g.207607318A>T	gnomAD
CR1	P17927	p.Ala1511Pro	rs761361183	missense variant	-	NC_000001.11:g.207607321G>C	ExAC,gnomAD
CR1	P17927	p.Pro1512Thr	rs771537444	missense variant	-	NC_000001.11:g.207607324C>A	ExAC,gnomAD
CR1	P17927	p.Ile1513Thr	rs773275472	missense variant	-	NC_000001.11:g.207607328T>C	ExAC,gnomAD
CR1	P17927	p.Ile1517Val	rs772788078	missense variant	-	NC_000001.11:g.207609292A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1517Leu	rs772788078	missense variant	-	NC_000001.11:g.207609292A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1518Tyr	rs1034658211	missense variant	-	NC_000001.11:g.207609296C>A	TOPMed,gnomAD
CR1	P17927	p.Ser1518Pro	rs1458471535	missense variant	-	NC_000001.11:g.207609295T>C	gnomAD
CR1	P17927	p.Pro1522Leu	rs375894322	missense variant	-	NC_000001.11:g.207609308C>T	ESP,TOPMed
CR1	P17927	p.Pro1523Leu	rs1247963049	missense variant	-	NC_000001.11:g.207609311C>T	gnomAD
CR1	P17927	p.Ile1525Thr	rs1165042935	missense variant	-	NC_000001.11:g.207609317T>C	TOPMed,gnomAD
CR1	P17927	p.Ile1525Val	rs760282783	missense variant	-	NC_000001.11:g.207609316A>G	ExAC,gnomAD
CR1	P17927	p.Ser1526Pro	rs1184699500	missense variant	-	NC_000001.11:g.207609319T>C	TOPMed
CR1	P17927	p.Ser1526Tyr	rs117571325	missense variant	-	NC_000001.11:g.207609320C>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1527Ser	rs776473566	missense variant	-	NC_000001.11:g.207609323A>G	ExAC,gnomAD
CR1	P17927	p.Ser1532Gly	rs189863730	missense variant	-	NC_000001.11:g.207609337A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1534Tyr	rs1273830420	missense variant	-	NC_000001.11:g.207609343A>T	gnomAD
CR1	P17927	p.Asn1534Ser	rs765001077	missense variant	-	NC_000001.11:g.207609344A>G	ExAC,gnomAD
CR1	P17927	p.Asn1540Ser	rs17259045	missense variant	-	NC_000001.11:g.207609362A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1541Glu	rs750458018	missense variant	-	NC_000001.11:g.207609365G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1541Ter	rs1263915207	stop gained	-	NC_000001.11:g.207609364G>T	TOPMed
CR1	P17927	p.Thr1542Met	rs376660723	missense variant	-	NC_000001.11:g.207609368C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1547Lys	rs1204262968	missense variant	-	NC_000001.11:g.207609382C>A	gnomAD
CR1	P17927	p.Cys1548Ter	rs755362456	stop gained	-	NC_000001.11:g.207609387C>A	ExAC,gnomAD
CR1	P17927	p.Thr1550Ile	rs779078224	missense variant	-	NC_000001.11:g.207609392C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1551Ala	rs1182031602	missense variant	-	NC_000001.11:g.207609395G>C	TOPMed,gnomAD
CR1	P17927	p.Pro1552Gln	rs370954317	missense variant	-	NC_000001.11:g.207609398C>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1552Ser	rs1256403834	missense variant	-	NC_000001.11:g.207609397C>T	gnomAD
CR1	P17927	p.Pro1552Arg	rs370954317	missense variant	-	NC_000001.11:g.207609398C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1553Glu	rs899715184	missense variant	-	NC_000001.11:g.207609402T>G	TOPMed,gnomAD
CR1	P17927	p.Gly1554Arg	rs907980596	missense variant	-	NC_000001.11:g.207609403G>A	TOPMed,gnomAD
CR1	P17927	p.Glu1555Lys	rs374281717	missense variant	-	NC_000001.11:g.207609406G>A	ESP,ExAC,gnomAD
CR1	P17927	p.Gln1556His	rs746487023	missense variant	-	NC_000001.11:g.207609411G>C	ExAC,gnomAD
CR1	P17927	p.Leu1560Pro	rs1360636024	missense variant	-	NC_000001.11:g.207609422T>C	gnomAD
CR1	P17927	p.Val1561Met	rs41274768	missense variant	-	NC_000001.11:g.207609424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1564Trp	rs370698774	missense variant	-	NC_000001.11:g.207609433C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1564Gln	rs200742776	missense variant	-	NC_000001.11:g.207609434G>A	TOPMed,gnomAD
CR1	P17927	p.Ile1566Met	rs1341215006	missense variant	-	NC_000001.11:g.207609441A>G	gnomAD
CR1	P17927	p.Tyr1567His	rs1165035355	missense variant	-	NC_000001.11:g.207609442T>C	TOPMed,gnomAD
CR1	P17927	p.Thr1569Pro	rs762762588	missense variant	-	NC_000001.11:g.207609448A>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1570Arg	rs767690665	missense variant	-	NC_000001.11:g.207609453C>A	ExAC,gnomAD
CR1	P17927	p.Ser1570Cys	rs1265485196	missense variant	-	NC_000001.11:g.207609451A>T	TOPMed
CR1	P17927	p.Ser1570Thr	rs1314265094	missense variant	-	NC_000001.11:g.207609452G>C	gnomAD
CR1	P17927	p.Lys1571Arg	rs575862611	missense variant	-	NC_000001.11:g.207609455A>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Asp1572Asn	rs1393043876	missense variant	-	NC_000001.11:g.207609457G>A	gnomAD
CR1	P17927	p.Asp1573Gly	rs760727043	missense variant	-	NC_000001.11:g.207609461A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1574Ter	rs766431816	stop gained	-	NC_000001.11:g.207609463C>T	ExAC,gnomAD
CR1	P17927	p.Val1575Ala	rs1257486895	missense variant	-	NC_000001.11:g.207609467T>C	TOPMed
CR1	P17927	p.Trp1578Ter	rs1216947356	stop gained	-	NC_000001.11:g.207609477G>A	TOPMed
CR1	P17927	p.Pro1581Ser	rs753954835	missense variant	-	NC_000001.11:g.207609484C>T	ExAC,gnomAD
CR1	P17927	p.Pro1581Arg	rs374732257	missense variant	-	NC_000001.11:g.207609485C>G	ESP,TOPMed
CR1	P17927	p.Pro1582Ser	rs947565628	missense variant	-	NC_000001.11:g.207609487C>T	gnomAD
CR1	P17927	p.Pro1583Thr	rs769058005	missense variant	-	NC_000001.11:g.207609490C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1583His	rs544740223	missense variant	-	NC_000001.11:g.207609491C>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1583Ser	rs769058005	missense variant	-	NC_000001.11:g.207609490C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1583Arg	rs544740223	missense variant	-	NC_000001.11:g.207609491C>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1583Leu	rs544740223	missense variant	-	NC_000001.11:g.207609491C>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1584Trp	rs746717987	missense variant	-	NC_000001.11:g.207609493C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1584Gln	rs370975278	missense variant	-	NC_000001.11:g.207609494G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1584Leu	rs370975278	missense variant	-	NC_000001.11:g.207609494G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1588Ala	rs1433020893	missense variant	-	NC_000001.11:g.207609505A>G	gnomAD
CR1	P17927	p.Lys1590Glu	rs17047660	missense variant	-	NC_000001.11:g.207609511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1595Asp	rs533388914	missense variant	-	NC_000001.11:g.207609528A>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1595Lys	rs1287596712	missense variant	-	NC_000001.11:g.207609526G>A	gnomAD
CR1	P17927	p.Val1596Phe	rs1220161506	missense variant	-	NC_000001.11:g.207609529G>T	gnomAD
CR1	P17927	p.Val1596Ala	rs769571841	missense variant	-	NC_000001.11:g.207609530T>C	ExAC,gnomAD
CR1	P17927	p.Asn1598Ser	rs1346190010	missense variant	-	NC_000001.11:g.207609536A>G	gnomAD
CR1	P17927	p.Ala1599Gly	rs1270011121	missense variant	-	NC_000001.11:g.207609539C>G	gnomAD
CR1	P17927	p.Ile1600Thr	rs371865023	missense variant	-	NC_000001.11:g.207609542T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1600Val	rs917368537	missense variant	-	NC_000001.11:g.207609541A>G	TOPMed,gnomAD
CR1	P17927	p.Arg1601Thr	rs1248372125	missense variant	-	NC_000001.11:g.207609545G>C	gnomAD
CR1	P17927	p.Arg1601Gly	rs17047661	missense variant	-	NC_000001.11:g.207609544A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1604Ala	rs773415681	missense variant	-	NC_000001.11:g.207609554G>C	ExAC,gnomAD
CR1	P17927	p.Asn1605Asp	rs1250844597	missense variant	-	NC_000001.11:g.207609556A>G	gnomAD
CR1	P17927	p.Arg1606Ser	rs560078703	missense variant	-	NC_000001.11:g.207609561G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1606Lys	rs1237809573	missense variant	-	NC_000001.11:g.207609560G>A	TOPMed
CR1	P17927	p.Ser1607Gly	rs367926730	missense variant	-	NC_000001.11:g.207609562A>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1610Thr	rs4844609	missense variant	-	NC_000001.11:g.207609571A>T	UniProt,dbSNP
CR1	P17927	p.Ser1610Thr	VAR_013823	missense variant	-	NC_000001.11:g.207609571A>T	UniProt
CR1	P17927	p.Thr1610Ser	rs4844609	missense variant	-	NC_000001.11:g.207609571A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1610Asn	rs759691846	missense variant	-	NC_000001.11:g.207609572C>A	ExAC,gnomAD
CR1	P17927	p.Ser1610Thr	VAR_013823	Missense	-	-	UniProt
CR1	P17927	p.Thr1612Ile	rs753306326	missense variant	-	NC_000001.11:g.207609578C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1612Ser	rs753306326	missense variant	-	NC_000001.11:g.207609578C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1613Val	rs1344284047	missense variant	-	NC_000001.11:g.207609581A>T	TOPMed
CR1	P17927	p.Ile1614Thr	rs764620269	missense variant	-	NC_000001.11:g.207609584T>C	ExAC,gnomAD
CR1	P17927	p.Ile1615Val	rs6691117	missense variant	-	NC_000001.11:g.207609586A>G	UniProt,dbSNP
CR1	P17927	p.Ile1615Val	VAR_013824	missense variant	-	NC_000001.11:g.207609586A>G	UniProt
CR1	P17927	p.Ile1615Val	rs6691117	missense variant	-	NC_000001.11:g.207609586A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1616Lys	rs369185924	missense variant	-	NC_000001.11:g.207609590G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1617Leu	rs745333008	missense variant	-	NC_000001.11:g.207609594T>G	ExAC,gnomAD
CR1	P17927	p.Pro1621Leu	rs1212938694	missense variant	-	NC_000001.11:g.207609605C>T	gnomAD
CR1	P17927	p.Gly1622Arg	rs768582642	missense variant	-	NC_000001.11:g.207609607G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1622Arg	rs768582642	missense variant	-	NC_000001.11:g.207609607G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1622Val	rs180783183	missense variant	-	NC_000001.11:g.207609608G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Met1625Leu	rs1469875213	missense variant	-	NC_000001.11:g.207609616A>C	gnomAD
CR1	P17927	p.Val1626Gly	rs921199166	missense variant	-	NC_000001.11:g.207609620T>G	TOPMed
CR1	P17927	p.Gly1627Glu	rs914840013	missense variant	-	NC_000001.11:g.207609623G>A	TOPMed,gnomAD
CR1	P17927	p.Gly1627Arg	rs769853928	missense variant	-	NC_000001.11:g.207609622G>A	ExAC,gnomAD
CR1	P17927	p.Gly1627Val	rs914840013	missense variant	-	NC_000001.11:g.207609623G>T	TOPMed,gnomAD
CR1	P17927	p.His1629Asn	rs1164800111	missense variant	-	NC_000001.11:g.207609628C>A	gnomAD
CR1	P17927	p.Thr1630Ile	rs1467500596	missense variant	-	NC_000001.11:g.207609632C>T	gnomAD
CR1	P17927	p.Thr1630Ala	rs776145460	missense variant	-	NC_000001.11:g.207609631A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1631Met	rs1330051836	missense variant	-	NC_000001.11:g.207609634G>A	TOPMed,gnomAD
CR1	P17927	p.Cys1633Trp	rs1473975413	missense variant	-	NC_000001.11:g.207609642C>G	gnomAD
CR1	P17927	p.Asn1636Ser	rs371538818	missense variant	-	NC_000001.11:g.207609650A>G	1000Genomes,ESP,ExAC,gnomAD
CR1	P17927	p.Asn1636Lys	rs533857968	missense variant	-	NC_000001.11:g.207609651T>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1637Asp	rs555635198	missense variant	-	NC_000001.11:g.207609653G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Trp1639Cys	rs1232192451	missense variant	-	NC_000001.11:g.207609660G>C	gnomAD
CR1	P17927	p.Pro1641Ser	rs1319989653	missense variant	-	NC_000001.11:g.207609664C>T	gnomAD
CR1	P17927	p.Pro1641Thr	rs1319989653	missense variant	-	NC_000001.11:g.207609664C>A	gnomAD
CR1	P17927	p.Pro1641Leu	rs1209582751	missense variant	-	NC_000001.11:g.207609665C>T	TOPMed
CR1	P17927	p.Leu1643Val	rs201017229	missense variant	-	NC_000001.11:g.207609670C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.His1645Gln	rs1202650226	missense variant	-	NC_000001.11:g.207609678C>G	gnomAD
CR1	P17927	p.His1645Arg	rs1435892908	missense variant	-	NC_000001.11:g.207609677A>G	gnomAD
CR1	P17927	p.Ser1647Phe	rs753337004	missense variant	-	NC_000001.11:g.207609683C>T	ExAC,gnomAD
CR1	P17927	p.Val1649Met	rs1201913115	missense variant	-	NC_000001.11:g.207609688G>A	TOPMed
CR1	P17927	p.Val1649Ala	rs541247689	missense variant	-	NC_000001.11:g.207611677T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1650Tyr	rs752622979	missense variant	-	NC_000001.11:g.207611680G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1652Leu	rs561028518	missense variant	-	NC_000001.11:g.207611686C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1654Ser	rs746766655	missense variant	-	NC_000001.11:g.207611691C>T	ExAC,gnomAD
CR1	P17927	p.Glu1655Asp	rs1353446182	missense variant	-	NC_000001.11:g.207611696A>T	TOPMed
CR1	P17927	p.His1658Tyr	rs756406372	missense variant	-	NC_000001.11:g.207611703C>T	ExAC,gnomAD
CR1	P17927	p.Gly1659Ser	rs369023282	missense variant	-	NC_000001.11:g.207611706G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1661Arg	rs749407317	missense variant	-	NC_000001.11:g.207611713A>G	ExAC,gnomAD
CR1	P17927	p.Thr1662Ile	rs1205844405	missense variant	-	NC_000001.11:g.207611716C>T	gnomAD
CR1	P17927	p.Leu1663Pro	rs1261623331	missense variant	-	NC_000001.11:g.207611719T>C	gnomAD
CR1	P17927	p.Gln1666Glu	rs986157698	missense variant	-	NC_000001.11:g.207611727C>G	TOPMed
CR1	P17927	p.Gln1666Ter	rs986157698	stop gained	-	NC_000001.11:g.207611727C>T	TOPMed
CR1	P17927	p.Asn1668Lys	rs748760719	missense variant	-	NC_000001.11:g.207611735C>A	ExAC,gnomAD
CR1	P17927	p.Phe1669Ser	rs772448550	missense variant	-	NC_000001.11:g.207611737T>C	ExAC,gnomAD
CR1	P17927	p.Gly1672Glu	rs373376403	missense variant	-	NC_000001.11:g.207611746G>A	ESP,TOPMed,gnomAD
CR1	P17927	p.Gly1672Ala	rs373376403	missense variant	-	NC_000001.11:g.207611746G>C	ESP,TOPMed,gnomAD
CR1	P17927	p.Gln1673Arg	rs924076464	missense variant	-	NC_000001.11:g.207611749A>G	TOPMed
CR1	P17927	p.Glu1674Lys	rs760919810	missense variant	-	NC_000001.11:g.207611751G>A	ExAC,gnomAD
CR1	P17927	p.Val1675Leu	rs202148801	missense variant	-	NC_000001.11:g.207611754G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1675Leu	rs202148801	missense variant	-	NC_000001.11:g.207611754G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1679Ser	rs759061317	missense variant	-	NC_000001.11:g.207611767G>C	ExAC,gnomAD
CR1	P17927	p.Ser1682Gly	rs1438489971	missense variant	-	NC_000001.11:g.207611775A>G	gnomAD
CR1	P17927	p.Tyr1683Cys	rs1337815492	missense variant	-	NC_000001.11:g.207611779A>G	gnomAD
CR1	P17927	p.Asp1684Tyr	rs752143975	missense variant	-	NC_000001.11:g.207611781G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1684Gly	rs563184105	missense variant	-	NC_000001.11:g.207611782A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1687Glu	rs751408730	missense variant	-	NC_000001.11:g.207611791G>A	ExAC,gnomAD
CR1	P17927	p.Gly1687Arg	rs948071511	missense variant	-	NC_000001.11:g.207611790G>C	TOPMed
CR1	P17927	p.Ala1689Thr	rs767319586	missense variant	-	NC_000001.11:g.207611796G>A	gnomAD
CR1	P17927	p.Ala1689Val	rs757075631	missense variant	-	NC_000001.11:g.207611797C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1690Cys	rs780442691	missense variant	-	NC_000001.11:g.207611800C>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1690Phe	rs780442691	missense variant	-	NC_000001.11:g.207611800C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1693Trp	rs1459023366	missense variant	-	NC_000001.11:g.207611810C>G	gnomAD
CR1	P17927	p.Cys1693Arg	rs779111590	missense variant	-	NC_000001.11:g.207611808T>C	ExAC,gnomAD
CR1	P17927	p.Thr1694Met	rs370389622	missense variant	-	NC_000001.11:g.207611812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1695Leu	rs773555762	missense variant	-	NC_000001.11:g.207611815C>T	ExAC,gnomAD
CR1	P17927	p.Gln1696His	rs551820345	missense variant	-	NC_000001.11:g.207611819G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1696Arg	rs1392117583	missense variant	-	NC_000001.11:g.207611818A>G	TOPMed,gnomAD
CR1	P17927	p.Gln1696Ter	rs1373788325	stop gained	-	NC_000001.11:g.207611817C>T	gnomAD
CR1	P17927	p.Asp1698Gly	rs1420240087	missense variant	-	NC_000001.11:g.207611824A>G	gnomAD
CR1	P17927	p.Trp1699Arg	rs1334013193	missense variant	-	NC_000001.11:g.207611826T>A	gnomAD
CR1	P17927	p.Ser1700Arg	rs879142327	missense variant	-	NC_000001.11:g.207611831C>A	gnomAD
CR1	P17927	p.Ser1700Asn	rs771230144	missense variant	-	NC_000001.11:g.207611830G>A	ExAC,gnomAD
CR1	P17927	p.Glu1702Lys	rs776271756	missense variant	-	NC_000001.11:g.207611835G>A	ExAC,gnomAD
CR1	P17927	p.Ala1703Val	rs759251578	missense variant	-	NC_000001.11:g.207611839C>T	ExAC,gnomAD
CR1	P17927	p.Arg1705Thr	rs1229306455	missense variant	-	NC_000001.11:g.207611845G>C	TOPMed
CR1	P17927	p.Cys1706Arg	rs1248026591	missense variant	-	NC_000001.11:g.207611847T>C	TOPMed,gnomAD
CR1	P17927	p.Cys1706Ser	rs1248026591	missense variant	-	NC_000001.11:g.207611847T>A	TOPMed,gnomAD
CR1	P17927	p.Ser1710Pro	rs1307235096	missense variant	-	NC_000001.11:g.207611944T>C	TOPMed
CR1	P17927	p.Ser1710Tyr	rs1436756688	missense variant	-	NC_000001.11:g.207611945C>A	gnomAD
CR1	P17927	p.Cys1711Arg	rs1271346895	missense variant	-	NC_000001.11:g.207611947T>C	TOPMed
CR1	P17927	p.Asp1712Val	rs781594483	missense variant	-	NC_000001.11:g.207611951A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1713Asn	rs1343228666	missense variant	-	NC_000001.11:g.207611953G>A	TOPMed
CR1	P17927	p.Phe1714Leu	rs1375084004	missense variant	-	NC_000001.11:g.207611956T>C	gnomAD
CR1	P17927	p.Leu1715Val	rs1413106257	missense variant	-	NC_000001.11:g.207611959C>G	gnomAD
CR1	P17927	p.Gln1717His	rs148593452	missense variant	-	NC_000001.11:g.207611967A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1717Ter	rs1363341014	stop gained	-	NC_000001.11:g.207611965C>T	gnomAD
CR1	P17927	p.Leu1718Ile	rs369825592	missense variant	-	NC_000001.11:g.207611968C>A	ExAC,gnomAD
CR1	P17927	p.Leu1718Val	rs369825592	missense variant	-	NC_000001.11:g.207611968C>G	ExAC,gnomAD
CR1	P17927	p.Pro1719Thr	rs774346056	missense variant	-	NC_000001.11:g.207611971C>A	ExAC,gnomAD
CR1	P17927	p.Gly1721Val	rs374085005	missense variant	-	NC_000001.11:g.207611978G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Gly1721Asp	rs374085005	missense variant	-	NC_000001.11:g.207611978G>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Arg1722His	rs142767986	missense variant	-	NC_000001.11:g.207611981G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1722Cys	rs767544074	missense variant	-	NC_000001.11:g.207611980C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1725Pro	rs1353646442	missense variant	-	NC_000001.11:g.207611990T>C	TOPMed
CR1	P17927	p.Leu1725Phe	rs765521072	missense variant	-	NC_000001.11:g.207611989C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1726Arg	rs374983587	missense variant	-	NC_000001.11:g.207611993C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1727Phe	rs1254595228	missense variant	-	NC_000001.11:g.207611995C>T	gnomAD
CR1	P17927	p.Asn1728His	rs1454572992	missense variant	-	NC_000001.11:g.207611998A>C	gnomAD
CR1	P17927	p.Leu1729Val	rs1174465464	missense variant	-	NC_000001.11:g.207612001C>G	gnomAD
CR1	P17927	p.Gln1730His	rs1412818503	missense variant	-	NC_000001.11:g.207612006G>T	gnomAD
CR1	P17927	p.Leu1731Val	rs201229255	missense variant	-	NC_000001.11:g.207612007C>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Ala1733Thr	rs1453603748	missense variant	-	NC_000001.11:g.207612013G>A	gnomAD
CR1	P17927	p.Lys1734Asn	rs150619703	missense variant	-	NC_000001.11:g.207612018G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1734Asn	rs150619703	missense variant	-	NC_000001.11:g.207612018G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1735Leu	rs200258218	missense variant	-	NC_000001.11:g.207612019G>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1735Met	rs200258218	missense variant	-	NC_000001.11:g.207612019G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1736Phe	rs779766301	missense variant	-	NC_000001.11:g.207612023C>T	ExAC
CR1	P17927	p.Phe1737Cys	rs768346217	missense variant	-	NC_000001.11:g.207612026T>G	ExAC,gnomAD
CR1	P17927	p.Val1738Ala	rs774059529	missense variant	-	NC_000001.11:g.207612029T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1739Ter	rs761380715	stop gained	-	NC_000001.11:g.207612033C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1740Asn	rs376980117	missense variant	-	NC_000001.11:g.207612034G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1741Asp	rs1468733502	missense variant	-	NC_000001.11:g.207612039A>C	gnomAD
CR1	P17927	p.Glu1741Lys	rs1275018662	missense variant	-	NC_000001.11:g.207612037G>A	TOPMed,gnomAD
CR1	P17927	p.Gly1742Glu	rs1480058142	missense variant	-	NC_000001.11:g.207612041G>A	gnomAD
CR1	P17927	p.Gly1742Arg	rs760560895	missense variant	-	NC_000001.11:g.207612040G>A	ExAC,gnomAD
CR1	P17927	p.Arg1744Leu	rs55704352	missense variant	-	NC_000001.11:g.207614409G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1744Ter	rs55749440	stop gained	-	NC_000001.11:g.207614408C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1744Gln	rs55704352	missense variant	-	NC_000001.11:g.207614409G>A	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1746Ile	rs1196832040	missense variant	-	NC_000001.11:g.207614415A>T	TOPMed
CR1	P17927	p.Gly1747Asp	rs200692346	missense variant	-	NC_000001.11:g.207614418G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1749Pro	rs756633578	missense variant	-	NC_000001.11:g.207614423T>C	ExAC,gnomAD
CR1	P17927	p.Ser1751Arg	rs1291393992	missense variant	-	NC_000001.11:g.207614429A>C	gnomAD
CR1	P17927	p.His1752Arg	rs550889066	missense variant	-	NC_000001.11:g.207614433A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1754Ile	rs754189117	missense variant	-	NC_000001.11:g.207614438G>A	ExAC,gnomAD
CR1	P17927	p.Ala1756Pro	rs570636406	missense variant	-	NC_000001.11:g.207614444G>C	1000Genomes
CR1	P17927	p.Met1758Thr	rs61822976	missense variant	-	NC_000001.11:g.207614451T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1761Phe	rs1336919776	missense variant	-	NC_000001.11:g.207614459C>T	TOPMed
CR1	P17927	p.Trp1762Ter	rs1228805744	stop gained	-	NC_000001.11:g.207614464G>A	TOPMed
CR1	P17927	p.Asn1763Ser	rs1306489717	missense variant	-	NC_000001.11:g.207614466A>G	gnomAD
CR1	P17927	p.Ser1764Gly	rs758121969	missense variant	-	NC_000001.11:g.207614468A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1764Thr	rs1281844077	missense variant	-	NC_000001.11:g.207614469G>C	TOPMed
CR1	P17927	p.Ser1765Asn	rs1168924623	missense variant	-	NC_000001.11:g.207614472G>A	gnomAD
CR1	P17927	p.Pro1767Ala	rs1419253581	missense variant	-	NC_000001.11:g.207614477C>G	gnomAD
CR1	P17927	p.Val1768Met	rs1201840624	missense variant	-	NC_000001.11:g.207614480G>A	gnomAD
CR1	P17927	p.Val1768Ala	rs191751915	missense variant	-	NC_000001.11:g.207614481T>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1770Ter	rs746506311	stop gained	-	NC_000001.11:g.207614486G>T	ExAC,gnomAD
CR1	P17927	p.Glu1770Ala	rs1346440746	missense variant	-	NC_000001.11:g.207614487A>C	TOPMed
CR1	P17927	p.Gln1771Ter	rs1375478918	stop gained	-	NC_000001.11:g.207614489C>T	TOPMed,gnomAD
CR1	P17927	p.Pro1775Thr	rs370898285	missense variant	-	NC_000001.11:g.207616586C>A	ESP,TOPMed
CR1	P17927	p.Pro1775Ala	rs370898285	missense variant	-	NC_000001.11:g.207616586C>G	ESP,TOPMed
CR1	P17927	p.Asn1776Asp	rs1420504165	missense variant	-	NC_000001.11:g.207616589A>G	TOPMed,gnomAD
CR1	P17927	p.Pro1777Thr	rs544812366	missense variant	-	NC_000001.11:g.207616592C>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Pro1777Leu	rs781003292	missense variant	-	NC_000001.11:g.207616593C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1780Thr	rs745750052	missense variant	-	NC_000001.11:g.207616602T>C	ExAC,gnomAD
CR1	P17927	p.Leu1781Phe	rs779879645	missense variant	-	NC_000001.11:g.207616604C>T	ExAC,gnomAD
CR1	P17927	p.Gly1783Arg	rs749055778	missense variant	-	NC_000001.11:g.207616610G>A	ExAC,gnomAD
CR1	P17927	p.Arg1784Lys	rs879020751	missense variant	-	NC_000001.11:g.207616614G>A	gnomAD
CR1	P17927	p.Thr1786Ile	rs772317721	missense variant	-	NC_000001.11:g.207616620C>T	ExAC
CR1	P17927	p.Gly1787Glu	rs564952548	missense variant	-	NC_000001.11:g.207616623G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1788Pro	rs760688003	missense variant	-	NC_000001.11:g.207616625A>C	ExAC,gnomAD
CR1	P17927	p.Pro1789Ser	rs770979910	missense variant	-	NC_000001.11:g.207616628C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Phe1790Ser	rs1239921010	missense variant	-	NC_000001.11:g.207616632T>C	TOPMed,gnomAD
CR1	P17927	p.Asp1792Tyr	rs760180458	missense variant	-	NC_000001.11:g.207616637G>T	ExAC,gnomAD
CR1	P17927	p.Asp1792Gly	rs765817364	missense variant	-	NC_000001.11:g.207616638A>G	ExAC,gnomAD
CR1	P17927	p.Gly1796Ter	rs1028304802	stop gained	-	NC_000001.11:g.207616649G>T	TOPMed
CR1	P17927	p.Gly1796Glu	rs267598342	missense variant	-	NC_000001.11:g.207616650G>A	-
CR1	P17927	p.Lys1797Glu	rs1216100541	missense variant	-	NC_000001.11:g.207616652A>G	gnomAD
CR1	P17927	p.Glu1798Gly	rs1488377812	missense variant	-	NC_000001.11:g.207616656A>G	gnomAD
CR1	P17927	p.Glu1798Asp	rs1207667858	missense variant	-	NC_000001.11:g.207616657A>C	gnomAD
CR1	P17927	p.Glu1798Ter	rs753153189	stop gained	-	NC_000001.11:g.207616655G>T	ExAC,gnomAD
CR1	P17927	p.Ile1799Lys	rs763368712	missense variant	-	NC_000001.11:g.207616659T>A	ExAC,gnomAD
CR1	P17927	p.Ile1799Met	rs1396738758	missense variant	-	NC_000001.11:g.207616660A>G	gnomAD
CR1	P17927	p.Ala1802Val	rs1409139939	missense variant	-	NC_000001.11:g.207616668C>T	gnomAD
CR1	P17927	p.Ala1802Thr	rs56270008	missense variant	-	NC_000001.11:g.207616667G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1802Pro	rs56270008	missense variant	-	NC_000001.11:g.207616667G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1804Asn	rs113247278	missense variant	-	NC_000001.11:g.207616673G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1808Asn	rs749107552	missense variant	-	NC_000001.11:g.207616685G>A	ExAC,gnomAD
CR1	P17927	p.Arg1809Gly	rs545861624	missense variant	-	NC_000001.11:g.207616688A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1809Lys	rs777865155	missense variant	-	NC_000001.11:g.207616689G>A	ExAC,gnomAD
CR1	P17927	p.Gly1810Ala	rs747326386	missense variant	-	NC_000001.11:g.207616692G>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr1812Ile	rs529566156	missense variant	-	NC_000001.11:g.207616698C>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Thr1812Asn	rs529566156	missense variant	-	NC_000001.11:g.207616698C>A	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Thr1812Ser	rs771046779	missense variant	-	NC_000001.11:g.207616697A>T	ExAC,gnomAD
CR1	P17927	p.Phe1813Ser	rs1235639319	missense variant	-	NC_000001.11:g.207616701T>C	gnomAD
CR1	P17927	p.Asn1814Ser	rs745913870	missense variant	-	NC_000001.11:g.207616704A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn1814Thr	rs745913870	missense variant	-	NC_000001.11:g.207616704A>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1816Phe	rs1321472936	missense variant	-	NC_000001.11:g.207616709A>T	TOPMed,gnomAD
CR1	P17927	p.Ile1816Thr	rs770457031	missense variant	-	NC_000001.11:g.207616710T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1816Val	rs1321472936	missense variant	-	NC_000001.11:g.207616709A>G	TOPMed,gnomAD
CR1	P17927	p.Gly1817Ala	rs1339584812	missense variant	-	NC_000001.11:g.207616713G>C	TOPMed,gnomAD
CR1	P17927	p.Gly1817Arg	rs549640201	missense variant	-	NC_000001.11:g.207616712G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1818Ter	rs763422151	stop gained	-	NC_000001.11:g.207616715G>T	ExAC,gnomAD
CR1	P17927	p.Ser1819Ile	rs1434418184	missense variant	-	NC_000001.11:g.207616719G>T	TOPMed
CR1	P17927	p.Ser1820Thr	rs764452837	missense variant	-	NC_000001.11:g.207616721T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1821Thr	rs774574628	missense variant	-	NC_000001.11:g.207616725T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822His	rs767050487	missense variant	-	NC_000001.11:g.207616728G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822Leu	rs767050487	missense variant	-	NC_000001.11:g.207616728G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg1822Cys	rs191714506	missense variant	-	NC_000001.11:g.207616727C>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1823Arg	rs749973253	missense variant	-	NC_000001.11:g.207616730T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1823Tyr	rs755578730	missense variant	-	NC_000001.11:g.207616731G>A	ExAC,gnomAD
CR1	P17927	p.Ser1825Ile	rs139596791	missense variant	-	NC_000001.11:g.207616737G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1825Asn	rs139596791	missense variant	-	NC_000001.11:g.207616737G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1826Glu	rs1368752419	missense variant	-	NC_000001.11:g.207616741C>A	TOPMed,gnomAD
CR1	P17927	p.Asp1826Asn	rs1168233897	missense variant	-	NC_000001.11:g.207616739G>A	gnomAD
CR1	P17927	p.Pro1827His	rs3811381	missense variant	-	NC_000001.11:g.207616743C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1827Arg	rs3811381	missense variant	-	NC_000001.11:g.207616743C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1827Ser	rs754871656	missense variant	-	NC_000001.11:g.207616742C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1828His	rs1379169872	missense variant	-	NC_000001.11:g.207616747A>T	TOPMed,gnomAD
CR1	P17927	p.Ala1837Ser	rs367714079	missense variant	-	NC_000001.11:g.207616772G>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1838Ser	rs749876194	missense variant	-	NC_000001.11:g.207616775C>T	ExAC,gnomAD
CR1	P17927	p.Arg1839Cys	rs769027388	missense variant	-	NC_000001.11:g.207616778C>T	ExAC,gnomAD
CR1	P17927	p.Arg1839His	rs571422599	missense variant	-	NC_000001.11:g.207616779G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1841Ala	rs1188219151	missense variant	-	NC_000001.11:g.207616785A>C	gnomAD
CR1	P17927	p.Ala1847Pro	rs1400988835	missense variant	-	NC_000001.11:g.207616802G>C	TOPMed
CR1	P17927	p.His1850Asp	VAR_013826	Missense	-	-	UniProt
CR1	P17927	p.Pro1851Leu	rs372388379	missense variant	-	NC_000001.11:g.207618083C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro1852Arg	rs779246269	missense variant	-	NC_000001.11:g.207618086C>G	ExAC,gnomAD
CR1	P17927	p.Lys1853Arg	rs41274770	missense variant	-	NC_000001.11:g.207618089A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1854Met	rs772261193	missense variant	-	NC_000001.11:g.207618093C>G	ExAC,gnomAD
CR1	P17927	p.Ile1860Val	rs760382005	missense variant	-	NC_000001.11:g.207618109A>G	ExAC,gnomAD
CR1	P17927	p.Gly1861Glu	rs770551867	missense variant	-	NC_000001.11:g.207618113G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1861Arg	rs989464561	missense variant	-	NC_000001.11:g.207618112G>A	TOPMed
CR1	P17927	p.Gly1862Glu	rs1161365397	missense variant	-	NC_000001.11:g.207618116G>A	TOPMed
CR1	P17927	p.Gly1862Arg	rs776158638	missense variant	-	NC_000001.11:g.207618115G>A	ExAC,gnomAD
CR1	P17927	p.His1863Arg	rs558883935	missense variant	-	NC_000001.11:g.207618119A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1863Leu	rs558883935	missense variant	-	NC_000001.11:g.207618119A>T	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1864Ile	rs752517997	missense variant	-	NC_000001.11:g.207618121G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1866Pro	rs1364850488	missense variant	-	NC_000001.11:g.207618128T>C	gnomAD
CR1	P17927	p.Tyr1867His	rs1209011751	missense variant	-	NC_000001.11:g.207618130T>C	TOPMed
CR1	P17927	p.Pro1869Thr	rs1307614547	missense variant	-	NC_000001.11:g.207618136C>A	TOPMed,gnomAD
CR1	P17927	p.Ile1873Thr	rs1287070602	missense variant	-	NC_000001.11:g.207618149T>C	TOPMed
CR1	P17927	p.Ile1873Val	rs764047591	missense variant	-	NC_000001.11:g.207618148A>G	ExAC,gnomAD
CR1	P17927	p.Ser1874Thr	rs751385312	missense variant	-	NC_000001.11:g.207618152G>C	ExAC,gnomAD
CR1	P17927	p.Ile1876Ser	rs1428355347	missense variant	-	NC_000001.11:g.207618158T>G	gnomAD
CR1	P17927	p.Ile1876Val	rs200990657	missense variant	-	NC_000001.11:g.207618157A>G	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1880Ser	rs753979628	missense variant	-	NC_000001.11:g.207618169G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Tyr1881Phe	rs754960603	missense variant	-	NC_000001.11:g.207618173A>T	ExAC,gnomAD
CR1	P17927	p.Tyr1881Cys	rs754960603	missense variant	-	NC_000001.11:g.207618173A>G	ExAC,gnomAD
CR1	P17927	p.Leu1882Pro	rs1298564813	missense variant	-	NC_000001.11:g.207618176T>C	TOPMed
CR1	P17927	p.Leu1882Val	rs374661608	missense variant	-	NC_000001.11:g.207618175C>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val1884Leu	rs1369074955	missense variant	-	NC_000001.11:g.207618181G>T	TOPMed
CR1	P17927	p.Gly1885Val	rs1325557606	missense variant	-	NC_000001.11:g.207618185G>T	TOPMed
CR1	P17927	p.Gly1887Ser	rs61730889	missense variant	-	NC_000001.11:g.207618190G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Gly1887Asp	rs778163932	missense variant	-	NC_000001.11:g.207618191G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1891Tyr	rs1322460871	missense variant	-	NC_000001.11:g.207618203G>A	TOPMed,gnomAD
CR1	P17927	p.Cys1891Arg	rs747344171	missense variant	-	NC_000001.11:g.207618202T>C	ExAC,gnomAD
CR1	P17927	p.Cys1891Ser	rs1322460871	missense variant	-	NC_000001.11:g.207618203G>C	TOPMed,gnomAD
CR1	P17927	p.Thr1892Ala	rs1391836941	missense variant	-	NC_000001.11:g.207618205A>G	TOPMed
CR1	P17927	p.Asp1893Glu	rs770602678	missense variant	-	NC_000001.11:g.207618210C>A	ExAC,gnomAD
CR1	P17927	p.Gln1894Ter	rs1443930363	stop gained	-	NC_000001.11:g.207618211C>T	TOPMed,gnomAD
CR1	P17927	p.Gln1894Glu	rs1443930363	missense variant	-	NC_000001.11:g.207618211C>G	TOPMed,gnomAD
CR1	P17927	p.Gln1894Arg	rs1298197379	missense variant	-	NC_000001.11:g.207618212A>G	gnomAD
CR1	P17927	p.Gly1895Val	rs776218887	missense variant	-	NC_000001.11:g.207618215G>T	ExAC,gnomAD
CR1	P17927	p.Ser1898Asn	rs759100881	missense variant	-	NC_000001.11:g.207618224G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1898Ile	rs759100881	missense variant	-	NC_000001.11:g.207618224G>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1899Ter	rs769117496	stop gained	-	NC_000001.11:g.207618226C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln1899Pro	rs372676460	missense variant	-	NC_000001.11:g.207618227A>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1905Glu	rs751436405	missense variant	-	NC_000001.11:g.207618244A>G	ExAC,gnomAD
CR1	P17927	p.Val1907Glu	rs1328324745	missense variant	-	NC_000001.11:g.207619883T>A	TOPMed
CR1	P17927	p.Cys1909Tyr	rs1159121561	missense variant	-	NC_000001.11:g.207619889G>A	gnomAD
CR1	P17927	p.Pro1912Ser	rs887718746	missense variant	-	NC_000001.11:g.207619897C>T	TOPMed
CR1	P17927	p.Asn1916Lys	rs1187493168	missense variant	-	NC_000001.11:g.207619911T>G	gnomAD
CR1	P17927	p.Ile1918Leu	rs1236049985	missense variant	-	NC_000001.11:g.207619915A>C	gnomAD
CR1	P17927	p.Ser1919Leu	rs376743575	missense variant	-	NC_000001.11:g.207619919C>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Lys1920Arg	rs768741650	missense variant	-	NC_000001.11:g.207619922A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu1921Gly	rs775279350	missense variant	-	NC_000001.11:g.207619925A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Met1924Ile	rs1402308192	missense variant	-	NC_000001.11:g.207619935G>A	gnomAD
CR1	P17927	p.Lys1926Thr	rs1413788611	missense variant	-	NC_000001.11:g.207619940A>C	gnomAD
CR1	P17927	p.Tyr1930Cys	rs1346710526	missense variant	-	NC_000001.11:g.207619952A>G	gnomAD
CR1	P17927	p.Asp1932His	rs759729002	missense variant	-	NC_000001.11:g.207619957G>C	ExAC,gnomAD
CR1	P17927	p.Tyr1933His	rs764408841	missense variant	-	NC_000001.11:g.207619960T>C	ExAC,gnomAD
CR1	P17927	p.Asp1940Asn	rs1030089897	missense variant	-	NC_000001.11:g.207619981G>A	TOPMed
CR1	P17927	p.Gly1941Arg	rs1305661090	missense variant	-	NC_000001.11:g.207619984G>C	gnomAD
CR1	P17927	p.Thr1943Ser	rs1200358684	missense variant	-	NC_000001.11:g.207619991C>G	gnomAD
CR1	P17927	p.Thr1943Ile	rs1200358684	missense variant	-	NC_000001.11:g.207619991C>T	gnomAD
CR1	P17927	p.Glu1945Gly	rs1277185390	missense variant	-	NC_000001.11:g.207619997A>G	gnomAD
CR1	P17927	p.Trp1949Ter	rs867358083	stop gained	-	NC_000001.11:g.207620010G>A	TOPMed,gnomAD
CR1	P17927	p.Trp1949Cys	rs867358083	missense variant	-	NC_000001.11:g.207620010G>C	TOPMed,gnomAD
CR1	P17927	p.Ser1950Gly	rs751999210	missense variant	-	NC_000001.11:g.207620011A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Cys1952Gly	rs757755662	missense variant	-	NC_000001.11:g.207620017T>G	ExAC,gnomAD
CR1	P17927	p.Ala1954Glu	rs781466248	missense variant	-	NC_000001.11:g.207620024C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ala1954Val	rs781466248	missense variant	-	NC_000001.11:g.207620024C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1959Tyr	rs779712942	missense variant	-	NC_000001.11:g.207620038G>T	ExAC,gnomAD
CR1	P17927	p.Pro1960Arg	rs748825725	missense variant	-	NC_000001.11:g.207620042C>G	ExAC,gnomAD
CR1	P17927	p.Pro1961Ser	rs1350588945	missense variant	-	NC_000001.11:g.207620044C>T	TOPMed,gnomAD
CR1	P17927	p.Pro1961Leu	rs1457708351	missense variant	-	NC_000001.11:g.207620045C>T	gnomAD
CR1	P17927	p.Pro1961His	rs1457708351	missense variant	-	NC_000001.11:g.207620045C>A	gnomAD
CR1	P17927	p.Ala1963Thr	rs1386214379	missense variant	-	NC_000001.11:g.207620050G>A	gnomAD
CR1	P17927	p.del1963LysValLeuTerAspArgLysLeuProThrSerTrpSerArgTer	rs1319579253	stop gained	-	NC_000001.11:g.207620049_207620050insAAGGTACTGTAAGATAGAAAACTACCCACATCATGGAGCAGATGA	gnomAD
CR1	P17927	p.Thr1966Asn	rs1325827177	missense variant	-	NC_000001.11:g.207620060C>A	TOPMed,gnomAD
CR1	P17927	p.Ser1967Phe	rs767794791	missense variant	-	NC_000001.11:g.207620063C>T	TOPMed
CR1	P17927	p.Ser1967Pro	rs1232641532	missense variant	-	NC_000001.11:g.207620062T>C	TOPMed
CR1	P17927	p.Ser1967Cys	rs767794791	missense variant	-	NC_000001.11:g.207620063C>G	TOPMed
CR1	P17927	p.Arg1968Cys	rs748157061	missense variant	-	NC_000001.11:g.207620065C>T	ExAC,gnomAD
CR1	P17927	p.Arg1968Ser	rs748157061	missense variant	-	NC_000001.11:g.207620065C>A	ExAC,gnomAD
CR1	P17927	p.Thr1969Ala	rs2296160	missense variant	-	NC_000001.11:g.207621975A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His1970Arg	rs1181338817	missense variant	-	NC_000001.11:g.207621979A>G	gnomAD
CR1	P17927	p.Asp1971Val	rs368389600	missense variant	-	NC_000001.11:g.207621982A>T	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Asp1971Glu	rs577540907	missense variant	-	NC_000001.11:g.207621983T>G	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Asp1971His	rs376203607	missense variant	-	NC_000001.11:g.207621981G>C	ExAC,gnomAD
CR1	P17927	p.Asp1971Asn	rs376203607	missense variant	-	NC_000001.11:g.207621981G>A	ExAC,gnomAD
CR1	P17927	p.Ala1972Thr	rs1367687790	missense variant	-	NC_000001.11:g.207621984G>A	gnomAD
CR1	P17927	p.Leu1973Phe	rs941011635	missense variant	-	NC_000001.11:g.207621987C>T	TOPMed,gnomAD
CR1	P17927	p.Leu1973Val	rs941011635	missense variant	-	NC_000001.11:g.207621987C>G	TOPMed,gnomAD
CR1	P17927	p.Leu1973Pro	rs1372449830	missense variant	-	NC_000001.11:g.207621988T>C	gnomAD
CR1	P17927	p.Val1975Ala	rs1307946458	missense variant	-	NC_000001.11:g.207621994T>C	TOPMed,gnomAD
CR1	P17927	p.Gly1976Asp	rs770758740	missense variant	-	NC_000001.11:g.207622993G>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1978Phe	rs1210686232	missense variant	-	NC_000001.11:g.207623000A>T	TOPMed,gnomAD
CR1	P17927	p.Leu1978Ser	rs781012531	missense variant	-	NC_000001.11:g.207622999T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1979Phe	rs1055003237	missense variant	-	NC_000001.11:g.207623002C>T	TOPMed
CR1	P17927	p.Ser1979Pro	rs936179811	missense variant	-	NC_000001.11:g.207623001T>C	TOPMed
CR1	P17927	p.Gly1980Val	rs916014313	missense variant	-	NC_000001.11:g.207623005G>T	TOPMed,gnomAD
CR1	P17927	p.Thr1981Met	rs768897573	missense variant	-	NC_000001.11:g.207623008C>T	ExAC,gnomAD
CR1	P17927	p.Thr1981Ala	rs745630409	missense variant	-	NC_000001.11:g.207623007A>G	ExAC,gnomAD
CR1	P17927	p.Phe1983Ile	rs948794732	missense variant	-	NC_000001.11:g.207623013T>A	TOPMed,gnomAD
CR1	P17927	p.Phe1983Leu	rs1311566124	missense variant	-	NC_000001.11:g.207623015C>A	TOPMed
CR1	P17927	p.Phe1983Leu	rs948794732	missense variant	-	NC_000001.11:g.207623013T>C	TOPMed,gnomAD
CR1	P17927	p.Phe1983Ser	rs1188201350	missense variant	-	NC_000001.11:g.207623014T>C	gnomAD
CR1	P17927	p.Phe1984Leu	rs1045757587	missense variant	-	NC_000001.11:g.207623016T>C	TOPMed,gnomAD
CR1	P17927	p.Ile1985Thr	rs761809357	missense variant	-	NC_000001.11:g.207623020T>C	ExAC,gnomAD
CR1	P17927	p.Ile1985Ser	rs761809357	missense variant	-	NC_000001.11:g.207623020T>G	ExAC,gnomAD
CR1	P17927	p.Leu1987Ile	rs772120438	missense variant	-	NC_000001.11:g.207623025C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Leu1987Pro	rs773158798	missense variant	-	NC_000001.11:g.207623026T>C	ExAC,TOPMed,gnomAD
CR1	P17927	p.Ile1989Thr	rs374944231	missense variant	-	NC_000001.11:g.207623032T>C	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser1992Tyr	rs766965331	missense variant	-	NC_000001.11:g.207623041C>A	ExAC,gnomAD
CR1	P17927	p.Lys1997Glu	rs754289646	missense variant	-	NC_000001.11:g.207623055A>G	ExAC,gnomAD
CR1	P17927	p.Gly2001Ser	rs1219362352	missense variant	-	NC_000001.11:g.207623067G>A	gnomAD
CR1	P17927	p.Asn2002Asp	rs771591723	missense variant	-	NC_000001.11:g.207630518A>G	ExAC,gnomAD
CR1	P17927	p.Asn2002Ser	rs777224485	missense variant	-	NC_000001.11:g.207630519A>G	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn2002Ile	rs777224485	missense variant	-	NC_000001.11:g.207630519A>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Asn2003Lys	rs759984264	missense variant	-	NC_000001.11:g.207630523T>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.His2005Arg	rs1214037809	missense variant	-	NC_000001.11:g.207630528A>G	TOPMed
CR1	P17927	p.His2005Tyr	rs765764363	missense variant	-	NC_000001.11:g.207630527C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.His2005Asn	rs765764363	missense variant	-	NC_000001.11:g.207630527C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu2006Gly	rs775705835	missense variant	-	NC_000001.11:g.207630531A>G	ExAC,gnomAD
CR1	P17927	p.Asn2007Ser	rs1363146419	missense variant	-	NC_000001.11:g.207630534A>G	gnomAD
CR1	P17927	p.Pro2008Ser	rs1456413643	missense variant	-	NC_000001.11:g.207630536C>T	TOPMed,gnomAD
CR1	P17927	p.Val2011Gly	rs372485451	missense variant	-	NC_000001.11:g.207630546T>G	ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.His2014Arg	rs1407939215	missense variant	-	NC_000001.11:g.207630555A>G	gnomAD
CR1	P17927	p.His2016Tyr	rs756707673	missense variant	-	NC_000001.11:g.207630560C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Gln2018Arg	rs1379657733	missense variant	-	NC_000001.11:g.207630567A>G	gnomAD
CR1	P17927	p.Gln2018Pro	rs1379657733	missense variant	-	NC_000001.11:g.207630567A>C	gnomAD
CR1	P17927	p.Ser2022Ile	rs539578401	missense variant	-	NC_000001.11:g.207630579G>T	1000Genomes,ExAC,gnomAD
CR1	P17927	p.Val2023Leu	rs199592524	missense variant	-	NC_000001.11:g.207630581G>C	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Val2023Ile	rs199592524	missense variant	-	NC_000001.11:g.207630581G>A	1000Genomes,ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro2025Leu	rs758680091	missense variant	-	NC_000001.11:g.207630588C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Pro2025Ser	rs749007160	missense variant	-	NC_000001.11:g.207630587C>T	ExAC,gnomAD
CR1	P17927	p.Pro2025His	rs758680091	missense variant	-	NC_000001.11:g.207630588C>A	ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg2026Gln	rs115510609	missense variant	-	NC_000001.11:g.207630591G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Arg2026Ter	rs777810077	stop gained	-	NC_000001.11:g.207630590C>T	ExAC,TOPMed,gnomAD
CR1	P17927	p.Thr2027Ile	rs771072345	missense variant	-	NC_000001.11:g.207630594C>T	ExAC,gnomAD
CR1	P17927	p.Gln2029Arg	rs776850333	missense variant	-	NC_000001.11:g.207630600A>G	ExAC,gnomAD
CR1	P17927	p.Thr2030Ala	rs202101633	missense variant	-	NC_000001.11:g.207630602A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Glu2033Asp	rs189822933	missense variant	-	NC_000001.11:g.207630613A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CR1	P17927	p.Ser2035Gly	rs1462538290	missense variant	-	NC_000001.11:g.207630617A>G	gnomAD
CR1	P17927	p.Arg2036Ser	rs1325918800	missense variant	-	NC_000001.11:g.207639397G>T	gnomAD
CR1	P17927	p.Val2037Asp	rs1331156785	missense variant	-	NC_000001.11:g.207639399T>A	TOPMed
CR1	P17927	p.Val2037Phe	rs1225422125	missense variant	-	NC_000001.11:g.207639398G>T	gnomAD
CR1	P17927	p.Leu2038Phe	rs1273810900	missense variant	-	NC_000001.11:g.207639401C>T	TOPMed,gnomAD
BMP7	P18075	p.His2Arg	rs1431628195	missense variant	-	NC_000020.11:g.57266118T>C	gnomAD
BMP7	P18075	p.Val3Leu	rs571689544	missense variant	-	NC_000020.11:g.57266116C>G	1000Genomes,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Val3Met	rs571689544	missense variant	-	NC_000020.11:g.57266116C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg4Cys	rs1470883408	missense variant	-	NC_000020.11:g.57266113G>A	gnomAD
BMP7	P18075	p.Ser5Leu	rs957467613	missense variant	-	NC_000020.11:g.57266109G>A	TOPMed
BMP7	P18075	p.Arg7Pro	rs1233180568	missense variant	-	NC_000020.11:g.57266103C>G	TOPMed
BMP7	P18075	p.Pro11Leu	rs1175392200	missense variant	-	NC_000020.11:g.57266091G>A	gnomAD
BMP7	P18075	p.Ser13Asn	rs1479264541	missense variant	-	NC_000020.11:g.57266085C>T	gnomAD
BMP7	P18075	p.Val15Ala	rs1421269403	missense variant	-	NC_000020.11:g.57266079A>G	gnomAD
BMP7	P18075	p.Ala16Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57266076G>T	NCI-TCGA
BMP7	P18075	p.Leu17Phe	rs1482615161	missense variant	-	NC_000020.11:g.57266074G>A	TOPMed
BMP7	P18075	p.Pro20Leu	rs1245387656	missense variant	-	NC_000020.11:g.57266064G>A	gnomAD
BMP7	P18075	p.Leu21Met	rs865925053	missense variant	-	NC_000020.11:g.57266062G>T	TOPMed,gnomAD
BMP7	P18075	p.Phe22Leu	rs980184645	missense variant	-	NC_000020.11:g.57266057G>C	TOPMed,gnomAD
BMP7	P18075	p.Phe22Leu	rs980184645	missense variant	-	NC_000020.11:g.57266057G>T	TOPMed,gnomAD
BMP7	P18075	p.Arg25Cys	rs1264171723	missense variant	-	NC_000020.11:g.57266050G>A	gnomAD
BMP7	P18075	p.Ala27Val	rs1310779443	missense variant	-	NC_000020.11:g.57266043G>A	gnomAD
BMP7	P18075	p.Phe31Leu	rs1454540999	missense variant	-	NC_000020.11:g.57266032A>G	gnomAD
BMP7	P18075	p.Phe31Ile	rs1454540999	missense variant	-	NC_000020.11:g.57266032A>T	gnomAD
BMP7	P18075	p.Asp34Glu	rs763868573	missense variant	-	NC_000020.11:g.57266021G>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Glu36Lys	rs760656364	missense variant	-	NC_000020.11:g.57266017C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Glu36Gly	rs1306606385	missense variant	-	NC_000020.11:g.57266016T>C	TOPMed
BMP7	P18075	p.Val37Leu	rs1357578756	missense variant	-	NC_000020.11:g.57266014C>A	TOPMed
BMP7	P18075	p.Ser39Leu	rs774351201	missense variant	-	NC_000020.11:g.57266007G>A	ExAC,gnomAD
BMP7	P18075	p.Ser40Asn	rs1444696170	missense variant	-	NC_000020.11:g.57266004C>T	gnomAD
BMP7	P18075	p.Ser40Arg	rs1459467818	missense variant	-	NC_000020.11:g.57266003G>C	TOPMed,gnomAD
BMP7	P18075	p.His43Arg	rs1244342418	missense variant	-	NC_000020.11:g.57265995T>C	gnomAD
BMP7	P18075	p.Arg44Pro	rs1203582968	missense variant	-	NC_000020.11:g.57265992C>G	gnomAD
BMP7	P18075	p.Arg44Gln	rs1203582968	missense variant	-	NC_000020.11:g.57265992C>T	gnomAD
BMP7	P18075	p.Arg45Ser	rs1482514391	missense variant	-	NC_000020.11:g.57265990G>T	TOPMed,gnomAD
BMP7	P18075	p.Arg45His	COSM1412664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265989C>T	NCI-TCGA Cosmic
BMP7	P18075	p.Leu46Phe	rs868147897	missense variant	-	NC_000020.11:g.57265987G>A	TOPMed
BMP7	P18075	p.Arg47Cys	rs1205496696	missense variant	-	NC_000020.11:g.57265984G>A	gnomAD
BMP7	P18075	p.Arg47His	rs1307094650	missense variant	-	NC_000020.11:g.57265983C>T	TOPMed,gnomAD
BMP7	P18075	p.Arg52Pro	rs1164385783	missense variant	-	NC_000020.11:g.57265968C>G	TOPMed,gnomAD
BMP7	P18075	p.Glu53Lys	RCV000624724	missense variant	Inborn genetic diseases	NC_000020.11:g.57265966C>T	ClinVar
BMP7	P18075	p.Glu53Gln	rs1186663823	missense variant	-	NC_000020.11:g.57265966C>G	TOPMed
BMP7	P18075	p.Glu53Lys	rs1186663823	missense variant	-	NC_000020.11:g.57265966C>T	TOPMed
BMP7	P18075	p.Met54Leu	rs888626278	missense variant	-	NC_000020.11:g.57265963T>A	TOPMed,gnomAD
BMP7	P18075	p.Ile58Met	rs1298463835	missense variant	-	NC_000020.11:g.57265949G>C	gnomAD
BMP7	P18075	p.Arg69Leu	rs747542314	missense variant	-	NC_000020.11:g.57265917C>A	ExAC,gnomAD
BMP7	P18075	p.Pro70Gln	rs867354171	missense variant	-	NC_000020.11:g.57265914G>T	TOPMed
BMP7	P18075	p.Pro70Arg	rs867354171	missense variant	-	NC_000020.11:g.57265914G>C	TOPMed
BMP7	P18075	p.Gln73His	rs1225000220	missense variant	-	NC_000020.11:g.57265904C>G	gnomAD
BMP7	P18075	p.Gly74Asp	rs1298476061	missense variant	-	NC_000020.11:g.57265902C>T	TOPMed
BMP7	P18075	p.His76Gln	rs771580937	missense variant	-	NC_000020.11:g.57265895G>C	ExAC,gnomAD
BMP7	P18075	p.Asn77Ile	rs931743425	missense variant	-	NC_000020.11:g.57265893T>A	TOPMed,gnomAD
BMP7	P18075	p.Asn77Asp	rs745548111	missense variant	-	NC_000020.11:g.57265894T>C	ExAC,gnomAD
BMP7	P18075	p.Ser78Thr	rs1307594265	missense variant	-	NC_000020.11:g.57265891A>T	gnomAD
BMP7	P18075	p.Ser78Leu	rs900152094	missense variant	-	NC_000020.11:g.57265890G>A	TOPMed
BMP7	P18075	p.Ala79Ser	rs753750823	missense variant	-	NC_000020.11:g.57265888C>A	ExAC,gnomAD
BMP7	P18075	p.Met81Ile	rs1304647580	missense variant	-	NC_000020.11:g.57265880C>T	gnomAD
BMP7	P18075	p.Met83Thr	rs1405117633	missense variant	-	NC_000020.11:g.57265875A>G	gnomAD
BMP7	P18075	p.Leu84Met	rs1276059448	missense variant	-	NC_000020.11:g.57265873G>T	TOPMed
BMP7	P18075	p.Leu84Val	rs1276059448	missense variant	-	NC_000020.11:g.57265873G>C	TOPMed
BMP7	P18075	p.Asp85Glu	rs777610187	missense variant	-	NC_000020.11:g.57265868G>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Asn88Ser	rs766396823	missense variant	-	NC_000020.11:g.57265860T>C	ExAC,gnomAD
BMP7	P18075	p.Asn88His	rs1246899956	missense variant	-	NC_000020.11:g.57265861T>G	TOPMed
BMP7	P18075	p.Asn88Thr	rs766396823	missense variant	-	NC_000020.11:g.57265860T>G	ExAC,gnomAD
BMP7	P18075	p.Ala89Thr	COSM1028340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265858C>T	NCI-TCGA Cosmic
BMP7	P18075	p.Met90Ile	rs376083170	missense variant	-	NC_000020.11:g.57265853C>T	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Met90Val	rs1212048440	missense variant	-	NC_000020.11:g.57265855T>C	gnomAD
BMP7	P18075	p.Glu93Lys	rs765378952	missense variant	-	NC_000020.11:g.57265846C>T	ExAC,gnomAD
BMP7	P18075	p.Glu94Lys	rs776921476	missense variant	-	NC_000020.11:g.57265843C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Gly95Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57265839C>T	NCI-TCGA
BMP7	P18075	p.Gly96Ser	rs1261312167	missense variant	-	NC_000020.11:g.57265837C>T	TOPMed,gnomAD
BMP7	P18075	p.Gly97Arg	rs1423290459	missense variant	-	NC_000020.11:g.57265834C>T	TOPMed
BMP7	P18075	p.Gly97Glu	rs1290656042	missense variant	-	NC_000020.11:g.57265833C>T	gnomAD
BMP7	P18075	p.Pro98Ser	rs1326833140	missense variant	-	NC_000020.11:g.57265831G>A	gnomAD
BMP7	P18075	p.Gly99Ser	rs1284888052	missense variant	-	NC_000020.11:g.57265828C>T	gnomAD
BMP7	P18075	p.Gly100Ser	rs1327824248	missense variant	-	NC_000020.11:g.57265825C>T	TOPMed
BMP7	P18075	p.Gly100Val	rs1344425017	missense variant	-	NC_000020.11:g.57265824C>A	gnomAD
BMP7	P18075	p.Gln101Leu	rs771732616	missense variant	-	NC_000020.11:g.57265821T>A	ExAC,gnomAD
BMP7	P18075	p.Gly102Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57265818C>T	NCI-TCGA
BMP7	P18075	p.Pro106Ser	rs778560295	missense variant	-	NC_000020.11:g.57265807G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ala109Thr	rs770763971	missense variant	-	NC_000020.11:g.57265798C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Val110Ile	rs1178979703	missense variant	-	NC_000020.11:g.57265795C>T	gnomAD
BMP7	P18075	p.Phe111Ser	rs1377326769	missense variant	-	NC_000020.11:g.57265791A>G	gnomAD
BMP7	P18075	p.Phe111Leu	rs748948590	missense variant	-	NC_000020.11:g.57265792A>G	ExAC,gnomAD
BMP7	P18075	p.Ser112Gly	RCV000416599	missense variant	Congenital anomalies of kidney and urinary tract (CAKUT)	NC_000020.11:g.57265789T>C	ClinVar
BMP7	P18075	p.Ser112Gly	rs755895161	missense variant	-	NC_000020.11:g.57265789T>C	ExAC,gnomAD
BMP7	P18075	p.Ser112Cys	COSM4915207	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265789T>A	NCI-TCGA Cosmic
BMP7	P18075	p.Thr113His	NCI-TCGA novel	insertion	-	NC_000020.11:g.57265781_57265782insTGG	NCI-TCGA
BMP7	P18075	p.Thr113Ile	rs1262451970	missense variant	-	NC_000020.11:g.57265785G>A	gnomAD
BMP7	P18075	p.Gln114His	rs1272904190	missense variant	-	NC_000020.11:g.57265781C>G	TOPMed
BMP7	P18075	p.Gly115Asp	COSM4099700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265779C>T	NCI-TCGA Cosmic
BMP7	P18075	p.Pro116Ser	rs976788767	missense variant	-	NC_000020.11:g.57265777G>A	TOPMed,gnomAD
BMP7	P18075	p.Pro117Leu	rs1204114014	missense variant	-	NC_000020.11:g.57265773G>A	TOPMed,gnomAD
BMP7	P18075	p.Pro117His	COSM5967908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265773G>T	NCI-TCGA Cosmic
BMP7	P18075	p.Leu118SerPheSerTerUnk	COSM4665848	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.57265772_57265773insG	NCI-TCGA Cosmic
BMP7	P18075	p.Ala119Thr	rs1272784606	missense variant	-	NC_000020.11:g.57265768C>T	gnomAD
BMP7	P18075	p.Ser120Arg	rs1326516569	missense variant	-	NC_000020.11:g.57265763G>T	gnomAD
BMP7	P18075	p.Ser120Asn	rs1229141775	missense variant	-	NC_000020.11:g.57265764C>T	gnomAD
BMP7	P18075	p.Gln122Ter	rs1294149602	stop gained	-	NC_000020.11:g.57265759G>A	gnomAD
BMP7	P18075	p.Asp123His	rs781124338	missense variant	-	NC_000020.11:g.57265756C>G	ExAC,gnomAD
BMP7	P18075	p.Asp123Gly	rs758480033	missense variant	-	NC_000020.11:g.57265755T>C	ExAC,gnomAD
BMP7	P18075	p.Ser124Arg	COSM1028339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265751G>T	NCI-TCGA Cosmic
BMP7	P18075	p.Leu127Phe	rs1401933926	missense variant	-	NC_000020.11:g.57265744G>A	gnomAD
BMP7	P18075	p.Thr128Ile	rs1396100971	missense variant	-	NC_000020.11:g.57265740G>A	gnomAD
BMP7	P18075	p.Asp129Asn	rs767991677	missense variant	-	NC_000020.11:g.57265738C>T	gnomAD
BMP7	P18075	p.Asp129Tyr	rs767991677	missense variant	-	NC_000020.11:g.57265738C>A	gnomAD
BMP7	P18075	p.Ala130Thr	rs370363790	missense variant	-	NC_000020.11:g.57265735C>T	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ala130Gly	rs1187951027	missense variant	-	NC_000020.11:g.57265734G>C	gnomAD
BMP7	P18075	p.Asp131Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57265732C>T	NCI-TCGA
BMP7	P18075	p.Met132Thr	rs765291185	missense variant	-	NC_000020.11:g.57265728A>G	ExAC,gnomAD
BMP7	P18075	p.Met134Val	rs377359930	missense variant	-	NC_000020.11:g.57265723T>C	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Phe136Ser	COSM4099699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57265716A>G	NCI-TCGA Cosmic
BMP7	P18075	p.Asn138Ser	rs144422198	missense variant	-	NC_000020.11:g.57265710T>C	1000Genomes,TOPMed,gnomAD
BMP7	P18075	p.Val140Met	rs1339607526	missense variant	-	NC_000020.11:g.57265705C>T	gnomAD
BMP7	P18075	p.Glu141Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57228419C>G	NCI-TCGA
BMP7	P18075	p.Lys144Arg	rs760160207	missense variant	-	NC_000020.11:g.57228409T>C	ExAC
BMP7	P18075	p.Phe147Leu	rs373650740	missense variant	-	NC_000020.11:g.57228399G>T	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.His148Tyr	rs552372771	missense variant	-	NC_000020.11:g.57228398G>A	1000Genomes,ExAC,gnomAD
BMP7	P18075	p.His148Arg	rs1404713873	missense variant	-	NC_000020.11:g.57228397T>C	gnomAD
BMP7	P18075	p.Pro149Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57228395G>C	NCI-TCGA
BMP7	P18075	p.Pro149Gln	rs974761741	missense variant	-	NC_000020.11:g.57228394G>T	gnomAD
BMP7	P18075	p.Pro149Thr	rs762464557	missense variant	-	NC_000020.11:g.57228395G>T	ExAC,gnomAD
BMP7	P18075	p.Arg150Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57228391C>A	NCI-TCGA
BMP7	P18075	p.Arg150His	rs201575559	missense variant	-	NC_000020.11:g.57228391C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg150Cys	rs772742257	missense variant	-	NC_000020.11:g.57228392G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Tyr151Cys	rs1490728166	missense variant	-	NC_000020.11:g.57228388T>C	gnomAD
BMP7	P18075	p.His152Gln	rs149836190	missense variant	-	NC_000020.11:g.57228384G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.His153Ter	RCV000624212	frameshift	Inborn genetic diseases	NC_000020.11:g.57228384del	ClinVar
BMP7	P18075	p.His153Arg	rs1449347459	missense variant	-	NC_000020.11:g.57228382T>C	gnomAD
BMP7	P18075	p.His153Asn	rs1220253590	missense variant	-	NC_000020.11:g.57228383G>T	gnomAD
BMP7	P18075	p.Arg154Gln	rs535214572	missense variant	-	NC_000020.11:g.57228379C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg154Ter	rs1261883272	stop gained	-	NC_000020.11:g.57228380G>A	TOPMed
BMP7	P18075	p.Arg157Trp	rs1007847615	missense variant	-	NC_000020.11:g.57228371G>A	TOPMed,gnomAD
BMP7	P18075	p.Arg157Gln	rs761758732	missense variant	-	NC_000020.11:g.57228370C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Phe158Cys	COSM4406192	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228367A>C	NCI-TCGA Cosmic
BMP7	P18075	p.Leu160Val	rs202227032	missense variant	-	NC_000020.11:g.57228362G>C	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Leu160Phe	rs202227032	missense variant	-	NC_000020.11:g.57228362G>A	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Glu165Gly	rs1294314636	missense variant	-	NC_000020.11:g.57228346T>C	gnomAD
BMP7	P18075	p.Gly166Arg	rs1435896789	missense variant	-	NC_000020.11:g.57228344C>T	TOPMed,gnomAD
BMP7	P18075	p.Ala168Val	rs1348191815	missense variant	-	NC_000020.11:g.57228337G>A	gnomAD
BMP7	P18075	p.Thr170Met	rs371762840	missense variant	-	NC_000020.11:g.57228331G>A	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ala171Val	rs1410998929	missense variant	-	NC_000020.11:g.57228328G>A	gnomAD
BMP7	P18075	p.Ala171Thr	COSM3548081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228329C>T	NCI-TCGA Cosmic
BMP7	P18075	p.Ala172Gly	rs1481285028	missense variant	-	NC_000020.11:g.57228325G>C	gnomAD
BMP7	P18075	p.Glu173Lys	COSM191994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228323C>T	NCI-TCGA Cosmic
BMP7	P18075	p.Arg175Trp	rs1476787716	missense variant	-	NC_000020.11:g.57228317G>A	TOPMed,gnomAD
BMP7	P18075	p.Arg175Gln	rs755341380	missense variant	-	NC_000020.11:g.57228316C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ile176Thr	rs927802614	missense variant	-	NC_000020.11:g.57228313A>G	TOPMed,gnomAD
BMP7	P18075	p.Ile176Asn	rs927802614	missense variant	-	NC_000020.11:g.57228313A>T	TOPMed,gnomAD
BMP7	P18075	p.Tyr177Phe	rs1369327109	missense variant	-	NC_000020.11:g.57228310T>A	gnomAD
BMP7	P18075	p.Lys178Asn	rs752122835	missense variant	-	NC_000020.11:g.57228306C>G	ExAC,gnomAD
BMP7	P18075	p.Tyr180Asp	rs766922827	missense variant	-	NC_000020.11:g.57228302A>C	ExAC,gnomAD
BMP7	P18075	p.Ile181Val	rs750009722	missense variant	-	NC_000020.11:g.57228299T>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg182Trp	rs764633584	missense variant	-	NC_000020.11:g.57228296G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg182Gln	rs1365588928	missense variant	-	NC_000020.11:g.57228295C>T	gnomAD
BMP7	P18075	p.Arg184Gly	rs776230892	missense variant	-	NC_000020.11:g.57228290G>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg184His	rs973362334	missense variant	-	NC_000020.11:g.57228289C>T	TOPMed
BMP7	P18075	p.Arg184Cys	rs776230892	missense variant	-	NC_000020.11:g.57228290G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Phe185Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57228287A>C	NCI-TCGA
BMP7	P18075	p.Phe185Leu	rs768463621	missense variant	-	NC_000020.11:g.57228285G>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Asp186Asn	rs149261355	missense variant	-	NC_000020.11:g.57228284C>T	ESP
BMP7	P18075	p.Asn187Ser	rs1387884559	missense variant	-	NC_000020.11:g.57228280T>C	gnomAD
BMP7	P18075	p.Glu188Lys	rs1318429345	missense variant	-	NC_000020.11:g.57228278C>T	gnomAD
BMP7	P18075	p.Thr189Met	rs760406190	missense variant	-	NC_000020.11:g.57228274G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg191Gln	rs140127181	missense variant	-	NC_000020.11:g.57228268C>T	1000Genomes,ExAC,gnomAD
BMP7	P18075	p.Arg191Trp	rs1017902590	missense variant	-	NC_000020.11:g.57228269G>A	TOPMed
BMP7	P18075	p.Ile192Leu	rs1421057827	missense variant	-	NC_000020.11:g.57228266T>G	gnomAD
BMP7	P18075	p.Ser193Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57228262C>T	NCI-TCGA
BMP7	P18075	p.Val194Ile	rs199551942	missense variant	-	NC_000020.11:g.57228260C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Val194Phe	COSM578072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228260C>A	NCI-TCGA Cosmic
BMP7	P18075	p.Tyr195Cys	COSM6093846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57228256T>C	NCI-TCGA Cosmic
BMP7	P18075	p.Gln196Glu	rs769721400	missense variant	-	NC_000020.11:g.57228254G>C	ExAC,gnomAD
BMP7	P18075	p.Val197Met	rs748400220	missense variant	-	NC_000020.11:g.57228251C>T	ExAC,gnomAD
BMP7	P18075	p.Leu198Pro	rs376798352	missense variant	-	NC_000020.11:g.57228247A>G	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Leu198Phe	rs781505768	missense variant	-	NC_000020.11:g.57228248G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Glu200Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57228242C>T	NCI-TCGA
BMP7	P18075	p.His201Tyr	rs973527744	missense variant	-	NC_000020.11:g.57228239G>A	gnomAD
BMP7	P18075	p.Gly203Val	rs1229287235	missense variant	-	NC_000020.11:g.57228232C>A	gnomAD
BMP7	P18075	p.Arg204Ser	rs142693632	missense variant	-	NC_000020.11:g.57202623C>G	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Glu205Lys	rs1230022035	missense variant	-	NC_000020.11:g.57202622C>T	gnomAD
BMP7	P18075	p.Ser206Leu	rs138140607	missense variant	-	NC_000020.11:g.57202618G>A	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Asp207Glu	rs905272153	missense variant	-	NC_000020.11:g.57202614A>C	TOPMed
BMP7	P18075	p.Asp207Val	rs1000981409	missense variant	-	NC_000020.11:g.57202615T>A	TOPMed
BMP7	P18075	p.Leu210Gln	rs757821410	missense variant	-	NC_000020.11:g.57202606A>T	ExAC,gnomAD
BMP7	P18075	p.Asp212Tyr	rs752403942	missense variant	-	NC_000020.11:g.57202601C>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Asp212Asn	rs752403942	missense variant	-	NC_000020.11:g.57202601C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg214ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.57202595G>-	NCI-TCGA
BMP7	P18075	p.Arg214Cys	rs767011450	missense variant	-	NC_000020.11:g.57202595G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg214His	rs370126479	missense variant	-	NC_000020.11:g.57202594C>T	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Thr215Ile	rs751368146	missense variant	-	NC_000020.11:g.57202591G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Leu216Phe	rs1390807710	missense variant	-	NC_000020.11:g.57202589G>A	TOPMed,gnomAD
BMP7	P18075	p.Trp217Ter	rs1447542011	stop gained	-	NC_000020.11:g.57202585C>T	gnomAD
BMP7	P18075	p.Ala218Val	rs535901102	missense variant	-	NC_000020.11:g.57202582G>A	1000Genomes
BMP7	P18075	p.Ser219Leu	rs764292927	missense variant	-	NC_000020.11:g.57202579G>A	ExAC,gnomAD
BMP7	P18075	p.Glu221Lys	rs1253720722	missense variant	-	NC_000020.11:g.57202574C>T	gnomAD
BMP7	P18075	p.Val225Gly	rs775789240	missense variant	-	NC_000020.11:g.57202561A>C	ExAC,gnomAD
BMP7	P18075	p.Val225Leu	rs1242190341	missense variant	-	NC_000020.11:g.57202562C>G	TOPMed
BMP7	P18075	p.Ile228Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57202553T>G	NCI-TCGA
BMP7	P18075	p.Thr229Ala	rs746092842	missense variant	-	NC_000020.11:g.57202550T>C	ExAC,gnomAD
BMP7	P18075	p.Ala230Thr	rs1338073615	missense variant	-	NC_000020.11:g.57202547C>T	gnomAD
BMP7	P18075	p.Ala230Gly	rs774630143	missense variant	-	NC_000020.11:g.57202546G>C	ExAC,gnomAD
BMP7	P18075	p.Thr231Pro	rs771242712	missense variant	-	NC_000020.11:g.57202544T>G	ExAC,gnomAD
BMP7	P18075	p.Asn233Lys	rs1442370398	missense variant	-	NC_000020.11:g.57202536G>T	TOPMed
BMP7	P18075	p.His234Asn	rs749814408	missense variant	-	NC_000020.11:g.57202535G>T	ExAC,gnomAD
BMP7	P18075	p.Val237Ile	rs755625837	missense variant	-	NC_000020.11:g.57202526C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Asn238Ser	rs570170347	missense variant	-	NC_000020.11:g.57202522T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Asn238His	rs1411833009	missense variant	-	NC_000020.11:g.57202523T>G	gnomAD
BMP7	P18075	p.Pro239Leu	rs780738237	missense variant	-	NC_000020.11:g.57202519G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg240Trp	rs116720786	missense variant	-	NC_000020.11:g.57202517G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg240Gln	rs202084512	missense variant	-	NC_000020.11:g.57202516C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg240Leu	rs202084512	missense variant	-	NC_000020.11:g.57202516C>A	1000Genomes,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Gly244Asp	rs758218504	missense variant	-	NC_000020.11:g.57202504C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Gly244Val	rs758218504	missense variant	-	NC_000020.11:g.57202504C>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ser248Leu	rs145527493	missense variant	-	NC_000020.11:g.57202492G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Glu250Val	rs1425505727	missense variant	-	NC_000020.11:g.57202486T>A	gnomAD
BMP7	P18075	p.Thr251Met	RCV000416579	missense variant	Congenital anomalies of kidney and urinary tract (CAKUT)	NC_000020.11:g.57202483G>A	ClinVar
BMP7	P18075	p.Thr251Met	rs112344257	missense variant	-	NC_000020.11:g.57202483G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Leu252Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57202481G>T	NCI-TCGA
BMP7	P18075	p.Leu252Pro	rs752779943	missense variant	-	NC_000020.11:g.57202480A>G	ExAC,gnomAD
BMP7	P18075	p.Leu252Gln	rs752779943	missense variant	-	NC_000020.11:g.57202480A>T	ExAC,gnomAD
BMP7	P18075	p.Asp253Tyr	rs1176413836	missense variant	-	NC_000020.11:g.57202478C>A	gnomAD
BMP7	P18075	p.Gly254Glu	rs777149291	missense variant	-	NC_000020.11:g.57183919C>T	ExAC,gnomAD
BMP7	P18075	p.Gly254Trp	rs767615840	missense variant	-	NC_000020.11:g.57202475C>A	ExAC,gnomAD
BMP7	P18075	p.Ser256Asn	rs1368751662	missense variant	-	NC_000020.11:g.57183913C>T	gnomAD
BMP7	P18075	p.Ile257Thr	rs1322461788	missense variant	-	NC_000020.11:g.57183910A>G	TOPMed,gnomAD
BMP7	P18075	p.Pro259Leu	rs768064909	missense variant	-	NC_000020.11:g.57183904G>A	ExAC,gnomAD
BMP7	P18075	p.Lys260Glu	rs746454446	missense variant	-	NC_000020.11:g.57183902T>C	ExAC,gnomAD
BMP7	P18075	p.Ala262Val	rs765522022	missense variant	-	NC_000020.11:g.57183895G>A	TOPMed,gnomAD
BMP7	P18075	p.Ile265Ser	rs1425293454	missense variant	-	NC_000020.11:g.57183886A>C	TOPMed,gnomAD
BMP7	P18075	p.Ile265Thr	rs1425293454	missense variant	-	NC_000020.11:g.57183886A>G	TOPMed,gnomAD
BMP7	P18075	p.Arg267Trp	rs148287752	missense variant	-	NC_000020.11:g.57183881G>A	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg267Gln	rs143311015	missense variant	-	NC_000020.11:g.57183880C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.His268Gln	rs149163942	missense variant	-	NC_000020.11:g.57183876G>C	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Gly269Arg	rs757024706	missense variant	-	NC_000020.11:g.57183875C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Pro270Arg	rs1247722047	missense variant	-	NC_000020.11:g.57183871G>C	gnomAD
BMP7	P18075	p.Gln271His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57183867C>G	NCI-TCGA
BMP7	P18075	p.Gln271Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.57183869G>A	NCI-TCGA
BMP7	P18075	p.Asn272Ser	rs1314114436	missense variant	-	NC_000020.11:g.57183865T>C	gnomAD
BMP7	P18075	p.Asn272Lys	rs1279572591	missense variant	-	NC_000020.11:g.57183864G>C	TOPMed,gnomAD
BMP7	P18075	p.Val278Met	rs755997469	missense variant	-	NC_000020.11:g.57183848C>T	ExAC,gnomAD
BMP7	P18075	p.Ala283Thr	rs560540219	missense variant	-	NC_000020.11:g.57183833C>T	1000Genomes,ExAC,gnomAD
BMP7	P18075	p.Thr284Met	rs758656939	missense variant	-	NC_000020.11:g.57183829G>A	ExAC,gnomAD
BMP7	P18075	p.Glu285Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57183825C>A	NCI-TCGA
BMP7	P18075	p.Val286Ala	rs765543990	missense variant	-	NC_000020.11:g.57183823A>G	ExAC,gnomAD
BMP7	P18075	p.Val286Phe	rs1286853985	missense variant	-	NC_000020.11:g.57183824C>A	gnomAD
BMP7	P18075	p.Arg289His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57183814C>T	NCI-TCGA
BMP7	P18075	p.Arg289Gly	COSM6160464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57183815G>C	NCI-TCGA Cosmic
BMP7	P18075	p.Ser290Gly	rs1376006069	missense variant	-	NC_000020.11:g.57183812T>C	TOPMed
BMP7	P18075	p.Ile291Ser	rs1159102383	missense variant	-	NC_000020.11:g.57183808A>C	TOPMed
BMP7	P18075	p.Ile291Met	rs777009147	missense variant	-	NC_000020.11:g.57183807G>C	ExAC
BMP7	P18075	p.Arg292Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57183806G>A	NCI-TCGA
BMP7	P18075	p.Arg292Gln	COSM1028335	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57183805C>T	NCI-TCGA Cosmic
BMP7	P18075	p.Thr294Met	rs761254136	missense variant	-	NC_000020.11:g.57183799G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Gly295Glu	rs141716429	missense variant	-	NC_000020.11:g.57183796C>T	ESP
BMP7	P18075	p.Ser296Arg	rs775192767	missense variant	-	NC_000020.11:g.57183794T>G	ExAC,gnomAD
BMP7	P18075	p.Ser296Asn	COSM4878250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57183793C>T	NCI-TCGA Cosmic
BMP7	P18075	p.Lys297Gln	rs1327735915	missense variant	-	NC_000020.11:g.57183791T>G	TOPMed
BMP7	P18075	p.Gln298Glu	rs1450592604	missense variant	-	NC_000020.11:g.57183788G>C	gnomAD
BMP7	P18075	p.Arg299Cys	rs1247818896	missense variant	-	NC_000020.11:g.57183785G>A	gnomAD
BMP7	P18075	p.Arg299His	rs771679633	missense variant	-	NC_000020.11:g.57183784C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ser300Ile	rs745550040	missense variant	-	NC_000020.11:g.57183781C>A	ExAC,gnomAD
BMP7	P18075	p.Ser300Arg	RCV000416586	missense variant	Congenital anomalies of kidney and urinary tract (CAKUT)	NC_000020.11:g.57183780G>C	ClinVar
BMP7	P18075	p.Ser300Arg	rs540533068	missense variant	-	NC_000020.11:g.57183780G>T	1000Genomes,ExAC,gnomAD
BMP7	P18075	p.Ser300Arg	rs540533068	missense variant	-	NC_000020.11:g.57183780G>C	1000Genomes,ExAC,gnomAD
BMP7	P18075	p.Arg303His	rs749169949	missense variant	-	NC_000020.11:g.57183772C>T	ExAC,gnomAD
BMP7	P18075	p.Arg303Cys	rs770634021	missense variant	-	NC_000020.11:g.57183773G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ser304Phe	rs756092588	missense variant	-	NC_000020.11:g.57183769G>A	ExAC,gnomAD
BMP7	P18075	p.Ser304Tyr	rs756092588	missense variant	-	NC_000020.11:g.57183769G>T	ExAC,gnomAD
BMP7	P18075	p.Thr306Met	rs202153108	missense variant	-	NC_000020.11:g.57183763G>A	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Thr306Ala	rs1298665568	missense variant	-	NC_000020.11:g.57183764T>C	TOPMed
BMP7	P18075	p.Pro307His	rs1250712217	missense variant	-	NC_000020.11:g.57183760G>T	gnomAD
BMP7	P18075	p.Asn309Ile	rs1379602481	missense variant	-	NC_000020.11:g.57183754T>A	TOPMed,gnomAD
BMP7	P18075	p.Asn309Ser	rs1379602481	missense variant	-	NC_000020.11:g.57183754T>C	TOPMed,gnomAD
BMP7	P18075	p.Glu311Asp	rs931893519	missense variant	-	NC_000020.11:g.57183747T>G	gnomAD
BMP7	P18075	p.Glu311Gly	rs758424883	missense variant	-	NC_000020.11:g.57183748T>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ala312Ser	rs750659557	missense variant	-	NC_000020.11:g.57183746C>A	ExAC,gnomAD
BMP7	P18075	p.Leu313Pro	rs1371901034	missense variant	-	NC_000020.11:g.57183742A>G	gnomAD
BMP7	P18075	p.Arg314Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57183739C>A	NCI-TCGA
BMP7	P18075	p.Arg314Gln	rs765434399	missense variant	-	NC_000020.11:g.57183739C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg314Trp	rs919226290	missense variant	-	NC_000020.11:g.57183740G>A	TOPMed,gnomAD
BMP7	P18075	p.Met315Ile	rs183792918	missense variant	-	NC_000020.11:g.57183735C>T	1000Genomes,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Met315Leu	rs757417087	missense variant	-	NC_000020.11:g.57183737T>G	ExAC,gnomAD
BMP7	P18075	p.Ala316Ser	rs764349021	missense variant	-	NC_000020.11:g.57183734C>A	ExAC,gnomAD
BMP7	P18075	p.Asn317Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57183729G>T	NCI-TCGA
BMP7	P18075	p.Asn317Ser	rs761307267	missense variant	-	NC_000020.11:g.57183730T>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Val318Met	rs966044988	missense variant	-	NC_000020.11:g.57183728C>T	gnomAD
BMP7	P18075	p.Ala319Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57183725C>T	NCI-TCGA
BMP7	P18075	p.Asn321Ser	rs61733438	missense variant	-	NC_000020.11:g.57175004T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ser323Arg	rs1325824428	missense variant	-	NC_000020.11:g.57174999T>G	gnomAD
BMP7	P18075	p.Asp325Asn	rs200825690	missense variant	-	NC_000020.11:g.57174993C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Gln326Glu	rs751126578	missense variant	-	NC_000020.11:g.57174990G>C	ExAC,gnomAD
BMP7	P18075	p.Ala329Ser	rs754520569	missense variant	-	NC_000020.11:g.57174981C>A	ExAC,gnomAD
BMP7	P18075	p.Ala329Pro	rs754520569	missense variant	-	NC_000020.11:g.57174981C>G	ExAC,gnomAD
BMP7	P18075	p.Cys330Tyr	rs1362155862	missense variant	-	NC_000020.11:g.57174977C>T	gnomAD
BMP7	P18075	p.Lys332Glu	rs1178383520	missense variant	-	NC_000020.11:g.57174972T>C	gnomAD
BMP7	P18075	p.Glu334Lys	rs772689429	missense variant	-	NC_000020.11:g.57174966C>T	ExAC,gnomAD
BMP7	P18075	p.Tyr336Ter	rs1191655668	stop gained	-	NC_000020.11:g.57174958A>T	gnomAD
BMP7	P18075	p.Arg340Gln	rs761532385	missense variant	-	NC_000020.11:g.57174947C>T	ExAC,gnomAD
BMP7	P18075	p.Arg340Ter	rs769591631	stop gained	-	NC_000020.11:g.57174948G>A	ExAC,gnomAD
BMP7	P18075	p.Asp341Glu	rs1348164886	missense variant	-	NC_000020.11:g.57174943G>C	TOPMed,gnomAD
BMP7	P18075	p.Gly343Asp	rs1233430129	missense variant	-	NC_000020.11:g.57174938C>T	gnomAD
BMP7	P18075	p.Gln345Lys	rs1311095003	missense variant	-	NC_000020.11:g.57174933G>T	gnomAD
BMP7	P18075	p.Ala350Thr	rs1258054670	missense variant	-	NC_000020.11:g.57173298C>T	gnomAD
BMP7	P18075	p.Ala350Val	rs372973923	missense variant	-	NC_000020.11:g.57173297G>A	ESP,TOPMed,gnomAD
BMP7	P18075	p.Gly353Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57173288C>T	NCI-TCGA
BMP7	P18075	p.Ala355Thr	rs962224086	missense variant	-	NC_000020.11:g.57173283C>T	TOPMed,gnomAD
BMP7	P18075	p.Ala355Gly	rs1195673158	missense variant	-	NC_000020.11:g.57173282G>C	gnomAD
BMP7	P18075	p.Ala356Thr	rs749392235	missense variant	-	NC_000020.11:g.57173280C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Glu360Lys	rs1234260013	missense variant	-	NC_000020.11:g.57173268C>T	TOPMed,gnomAD
BMP7	P18075	p.Glu360Asp	rs773408240	missense variant	-	NC_000020.11:g.57173266C>G	ExAC,gnomAD
BMP7	P18075	p.Ala364Ser	rs748347077	missense variant	-	NC_000020.11:g.57173256C>A	ExAC,gnomAD
BMP7	P18075	p.Asn368Asp	rs909415889	missense variant	-	NC_000020.11:g.57173244T>C	gnomAD
BMP7	P18075	p.Asn368His	COSM4902650	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57173244T>G	NCI-TCGA Cosmic
BMP7	P18075	p.Met371Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57173235T>C	NCI-TCGA
BMP7	P18075	p.Met371Thr	rs755248955	missense variant	-	NC_000020.11:g.57173234A>G	ExAC,gnomAD
BMP7	P18075	p.Asn372Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57173231T>C	NCI-TCGA
BMP7	P18075	p.Ala373Thr	rs780359443	missense variant	-	NC_000020.11:g.57173229C>T	ExAC,gnomAD
BMP7	P18075	p.Asn375Ser	rs749995679	missense variant	-	NC_000020.11:g.57173222T>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ala377Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57173217C>T	NCI-TCGA
BMP7	P18075	p.Ala377Val	COSM1028331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57173216G>A	NCI-TCGA Cosmic
BMP7	P18075	p.Gln380His	rs1213572809	missense variant	-	NC_000020.11:g.57173206C>G	TOPMed
BMP7	P18075	p.Thr381Met	rs1275787189	missense variant	-	NC_000020.11:g.57173204G>A	TOPMed
BMP7	P18075	p.Leu382Val	rs763975815	missense variant	-	NC_000020.11:g.57173202G>C	ExAC,gnomAD
BMP7	P18075	p.Val383Ile	rs764960272	missense variant	-	NC_000020.11:g.57171108C>T	gnomAD
BMP7	P18075	p.His384Tyr	rs1447208985	missense variant	-	NC_000020.11:g.57171105G>A	TOPMed
BMP7	P18075	p.Ile386Val	rs148632870	missense variant	-	NC_000020.11:g.57171099T>C	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ile386Asn	rs1374249090	missense variant	-	NC_000020.11:g.57171098A>T	gnomAD
BMP7	P18075	p.Pro388Leu	rs201635368	missense variant	-	NC_000020.11:g.57171092G>A	1000Genomes,ExAC,gnomAD
BMP7	P18075	p.Thr390Met	rs766490422	missense variant	-	NC_000020.11:g.57171086G>A	ExAC,gnomAD
BMP7	P18075	p.Val391Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57171083A>C	NCI-TCGA
BMP7	P18075	p.Pro392His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57171080G>T	NCI-TCGA
BMP7	P18075	p.Pro392Ala	rs781751688	missense variant	-	NC_000020.11:g.57171081G>C	TOPMed
BMP7	P18075	p.Pro392Arg	COSM6160465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57171080G>C	NCI-TCGA Cosmic
BMP7	P18075	p.Cys395Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57171071C>A	NCI-TCGA
BMP7	P18075	p.Cys396Tyr	rs764205529	missense variant	-	NC_000020.11:g.57171068C>T	ExAC,gnomAD
BMP7	P18075	p.Cys396Ter	rs1210341077	stop gained	-	NC_000020.11:g.57171067A>T	gnomAD
BMP7	P18075	p.Ala397Val	rs374290827	missense variant	-	NC_000020.11:g.57171065G>A	ESP,ExAC,TOPMed,gnomAD
BMP7	P18075	p.Gln400His	rs1271787915	missense variant	-	NC_000020.11:g.57171055C>A	TOPMed
BMP7	P18075	p.Asn402Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57171051T>C	NCI-TCGA
BMP7	P18075	p.Asn402Ser	rs759832074	missense variant	-	NC_000020.11:g.57171050T>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ala403Gly	rs1270557215	missense variant	-	NC_000020.11:g.57171047G>C	gnomAD
BMP7	P18075	p.Ile404Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57171045T>A	NCI-TCGA
BMP7	P18075	p.Val406Ile	rs1292292967	missense variant	-	NC_000020.11:g.57171039C>T	TOPMed,gnomAD
BMP7	P18075	p.Leu407Val	rs771473569	missense variant	-	NC_000020.11:g.57171036G>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Tyr408Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57171032T>C	NCI-TCGA
BMP7	P18075	p.Phe409Leu	rs777176857	missense variant	-	NC_000020.11:g.57171028G>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Asp410Asn	rs1183761358	missense variant	-	NC_000020.11:g.57171027C>T	TOPMed
BMP7	P18075	p.Asp411Gly	rs1462910266	missense variant	-	NC_000020.11:g.57171023T>C	gnomAD
BMP7	P18075	p.Val415Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57171011A>C	NCI-TCGA
BMP7	P18075	p.Val415Ile	rs1463340387	missense variant	-	NC_000020.11:g.57171012C>T	gnomAD
BMP7	P18075	p.Lys418Asn	COSM1028329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.57171001C>A	NCI-TCGA Cosmic
BMP7	P18075	p.Met423Val	rs780828195	missense variant	-	NC_000020.11:g.57170988T>C	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Arg426Trp	rs1252706270	missense variant	-	NC_000020.11:g.57170979G>A	gnomAD
BMP7	P18075	p.Arg426Gln	rs751458817	missense variant	-	NC_000020.11:g.57170978C>T	ExAC,TOPMed,gnomAD
BMP7	P18075	p.Ala427Gly	rs1480294472	missense variant	-	NC_000020.11:g.57170975G>C	gnomAD
BMP7	P18075	p.Gly429Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.57170969C>T	NCI-TCGA
BMP7	P18075	p.Gly429Ala	rs779973881	missense variant	-	NC_000020.11:g.57170969C>G	ExAC,gnomAD
NAT1	P18440	p.Asp2Gly	rs1182777627	missense variant	-	NC_000008.11:g.18222052A>G	gnomAD
NAT1	P18440	p.Ile3Leu	rs868623536	missense variant	-	NC_000008.11:g.18222054A>C	gnomAD
NAT1	P18440	p.Ile3Val	rs868623536	missense variant	-	NC_000008.11:g.18222054A>G	gnomAD
NAT1	P18440	p.Ala5Glu	rs1372783672	missense variant	-	NC_000008.11:g.18222061C>A	TOPMed
NAT1	P18440	p.Arg9Ile	rs772568722	missense variant	-	NC_000008.11:g.18222073G>T	ExAC,gnomAD
NAT1	P18440	p.Ile10Asn	rs762718093	missense variant	-	NC_000008.11:g.18222076T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile10Thr	rs762718093	missense variant	-	NC_000008.11:g.18222076T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr12Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222082A>G	NCI-TCGA
NAT1	P18440	p.Arg16Ser	rs770525399	missense variant	-	NC_000008.11:g.18222095G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp20Tyr	rs759261556	missense variant	-	NC_000008.11:g.18222105G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp20Val	rs1456672837	missense variant	-	NC_000008.11:g.18222106A>T	gnomAD
NAT1	P18440	p.Leu21Val	rs767455795	missense variant	-	NC_000008.11:g.18222108T>G	ExAC,gnomAD
NAT1	P18440	p.Glu22Lys	rs1318508898	missense variant	-	NC_000008.11:g.18222111G>A	gnomAD
NAT1	P18440	p.Thr23Ala	rs767121351	missense variant	-	NC_000008.11:g.18222114A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu28Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222129C>T	NCI-TCGA
NAT1	P18440	p.Leu28Ile	rs764281519	missense variant	-	NC_000008.11:g.18222129C>A	ExAC,gnomAD
NAT1	P18440	p.His30Asn	rs867938850	missense variant	-	NC_000008.11:g.18222135C>A	gnomAD
NAT1	P18440	p.His30Tyr	rs867938850	missense variant	-	NC_000008.11:g.18222135C>T	gnomAD
NAT1	P18440	p.His30Leu	rs1455332072	missense variant	-	NC_000008.11:g.18222136A>T	TOPMed
NAT1	P18440	p.Gln31Arg	rs369130089	missense variant	-	NC_000008.11:g.18222139A>G	ESP,ExAC,gnomAD
NAT1	P18440	p.Ile32Phe	rs757584542	missense variant	-	NC_000008.11:g.18222141A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Leu	rs757584542	missense variant	-	NC_000008.11:g.18222141A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Val	rs757584542	missense variant	-	NC_000008.11:g.18222141A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Ter	rs56318881	stop gained	-	NC_000008.11:g.18222144C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Gln	rs111848753	missense variant	-	NC_000008.11:g.18222145G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala34Ser	rs758889084	missense variant	-	NC_000008.11:g.18222147G>T	ExAC,gnomAD
NAT1	P18440	p.Pro36Ala	rs1231619198	missense variant	-	NC_000008.11:g.18222153C>G	gnomAD
NAT1	P18440	p.Glu38Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222161G>T	NCI-TCGA
NAT1	P18440	p.Asn41His	rs780275360	missense variant	-	NC_000008.11:g.18222168A>C	ExAC,gnomAD
NAT1	P18440	p.Asn41Asp	rs780275360	missense variant	-	NC_000008.11:g.18222168A>G	ExAC,gnomAD
NAT1	P18440	p.Ile42Thr	rs1355361339	missense variant	-	NC_000008.11:g.18222172T>C	gnomAD
NAT1	P18440	p.His43Asn	rs747595397	missense variant	-	NC_000008.11:g.18222174C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His43Tyr	rs747595397	missense variant	-	NC_000008.11:g.18222174C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly45Arg	rs181298696	missense variant	-	NC_000008.11:g.18222180G>A	1000Genomes,TOPMed
NAT1	P18440	p.Gly45Trp	rs181298696	missense variant	-	NC_000008.11:g.18222180G>T	1000Genomes,TOPMed
NAT1	P18440	p.Gly45Val	rs1236531495	missense variant	-	NC_000008.11:g.18222181G>T	TOPMed
NAT1	P18440	p.Met48Ile	rs769023535	missense variant	-	NC_000008.11:g.18222191G>A	ExAC,gnomAD
NAT1	P18440	p.Asp49Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222192G>A	NCI-TCGA
NAT1	P18440	p.Leu52Ile	rs777369440	missense variant	-	NC_000008.11:g.18222201T>A	ExAC,gnomAD
NAT1	P18440	p.Glu53Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222204G>A	NCI-TCGA
NAT1	P18440	p.Ala54Val	rs1302880344	missense variant	-	NC_000008.11:g.18222208C>T	TOPMed
NAT1	P18440	p.Phe56LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.18222211T>-	NCI-TCGA
NAT1	P18440	p.Phe56Leu	rs748760955	missense variant	-	NC_000008.11:g.18222215T>G	ExAC,gnomAD
NAT1	P18440	p.Asp57GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.18222215_18222216insG	NCI-TCGA
NAT1	P18440	p.Asp57Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222216G>T	NCI-TCGA
NAT1	P18440	p.Gln58His	rs770576147	missense variant	-	NC_000008.11:g.18222221A>T	ExAC,gnomAD
NAT1	P18440	p.Val59Ala	rs745507855	missense variant	-	NC_000008.11:g.18222223T>C	ExAC,gnomAD
NAT1	P18440	p.Val59Leu	rs373598025	missense variant	-	NC_000008.11:g.18222222G>C	ESP,ExAC
NAT1	P18440	p.Val60Leu	rs1368442859	missense variant	-	NC_000008.11:g.18222225G>C	TOPMed,gnomAD
NAT1	P18440	p.Arg62Ile	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>T	TOPMed,gnomAD
NAT1	P18440	p.Arg62Thr	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>C	TOPMed,gnomAD
NAT1	P18440	p.Asn63Ser	rs1453728176	missense variant	-	NC_000008.11:g.18222235A>G	TOPMed
NAT1	P18440	p.Arg64Trp	RCV000239134	missense variant	-	NC_000008.11:g.18222237C>T	ClinVar
NAT1	P18440	p.Arg64Trp	rs56379106	missense variant	-	NC_000008.11:g.18222237C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg64Gln	rs138061602	missense variant	-	NC_000008.11:g.18222238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly65Asp	rs1435979876	missense variant	-	NC_000008.11:g.18222241G>A	TOPMed
NAT1	P18440	p.Gly66Arg	rs760682628	missense variant	-	NC_000008.11:g.18222243G>A	ExAC,gnomAD
NAT1	P18440	p.Gly66Glu	rs1392888904	missense variant	-	NC_000008.11:g.18222244G>A	TOPMed
NAT1	P18440	p.Trp67Arg	rs1374012381	missense variant	-	NC_000008.11:g.18222246T>C	gnomAD
NAT1	P18440	p.Trp67Cys	rs200617057	missense variant	-	NC_000008.11:g.18222248G>C	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp67Ter	rs1172703660	stop gained	-	NC_000008.11:g.18222247G>A	TOPMed
NAT1	P18440	p.Trp67Ter	rs200617057	stop gained	-	NC_000008.11:g.18222248G>A	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln70Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.18222255C>T	NCI-TCGA
NAT1	P18440	p.His73Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222266T>A	NCI-TCGA
NAT1	P18440	p.Leu75Val	rs1242293172	missense variant	-	NC_000008.11:g.18222270C>G	gnomAD
NAT1	P18440	p.Tyr76Ter	rs758659369	stop gained	-	NC_000008.11:g.18222275C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr76Phe	rs1184525084	missense variant	-	NC_000008.11:g.18222274A>T	TOPMed
NAT1	P18440	p.Tyr76His	rs1274840625	missense variant	-	NC_000008.11:g.18222273T>C	TOPMed,gnomAD
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Ter	rs899099033	stop gained	-	NC_000008.11:g.18222277G>A	TOPMed
NAT1	P18440	p.Trp77Ter	rs766818967	stop gained	-	NC_000008.11:g.18222278G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr80Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222286C>T	NCI-TCGA
NAT1	P18440	p.Thr81Ala	rs1196494896	missense variant	-	NC_000008.11:g.18222288A>G	gnomAD
NAT1	P18440	p.Ile82Val	rs878972721	missense variant	-	NC_000008.11:g.18222291A>G	gnomAD
NAT1	P18440	p.Ile82Thr	rs781488745	missense variant	-	NC_000008.11:g.18222292T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile82Asn	rs781488745	missense variant	-	NC_000008.11:g.18222292T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu85Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222301A>T	NCI-TCGA
NAT1	P18440	p.Thr86Ala	rs1293918771	missense variant	-	NC_000008.11:g.18222303A>G	TOPMed
NAT1	P18440	p.Thr86Ser	rs1472009345	missense variant	-	NC_000008.11:g.18222304C>G	TOPMed,gnomAD
NAT1	P18440	p.Thr87Met	rs377662129	missense variant	-	NC_000008.11:g.18222307C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu89Ter	rs745561037	stop gained	-	NC_000008.11:g.18222313T>A	ExAC,gnomAD
NAT1	P18440	p.Gly90Ala	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>C	TOPMed
NAT1	P18440	p.Gly90Glu	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>A	TOPMed
NAT1	P18440	p.Gly91Trp	rs906486901	missense variant	-	NC_000008.11:g.18222318G>T	TOPMed
NAT1	P18440	p.Tyr92Cys	rs771574299	missense variant	-	NC_000008.11:g.18222322A>G	ExAC
NAT1	P18440	p.Val93Phe	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>T	TOPMed,gnomAD
NAT1	P18440	p.Val93Leu	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>C	TOPMed,gnomAD
NAT1	P18440	p.Thr96Ile	rs746715596	missense variant	-	NC_000008.11:g.18222334C>T	ExAC,gnomAD
NAT1	P18440	p.Thr96Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222334C>A	NCI-TCGA
NAT1	P18440	p.Pro97Ala	rs142535782	missense variant	-	NC_000008.11:g.18222336C>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Val	rs776486965	missense variant	-	NC_000008.11:g.18222340C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Gly	rs776486965	missense variant	-	NC_000008.11:g.18222340C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys99Arg	rs1294831136	missense variant	-	NC_000008.11:g.18222343A>G	gnomAD
NAT1	P18440	p.Lys99Asn	rs1355837022	missense variant	-	NC_000008.11:g.18222344A>C	gnomAD
NAT1	P18440	p.Lys100Asn	rs956774819	missense variant	-	NC_000008.11:g.18222347A>C	TOPMed
NAT1	P18440	p.Tyr101IlePheSerTerUnkUnk	rs746311173	frameshift	-	NC_000008.11:g.18222341_18222342insA	NCI-TCGA,NCI-TCGA Cosmic
NAT1	P18440	p.Thr103Ala	rs1256959731	missense variant	-	NC_000008.11:g.18222354A>G	TOPMed
NAT1	P18440	p.Gly104Asp	rs765445123	missense variant	-	NC_000008.11:g.18222358G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly104Ser	rs761834764	missense variant	-	NC_000008.11:g.18222357G>A	ExAC,gnomAD
NAT1	P18440	p.Gly104Val	rs765445123	missense variant	-	NC_000008.11:g.18222358G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Arg	rs1228183829	missense variant	-	NC_000008.11:g.18222361T>G	gnomAD
NAT1	P18440	p.Met105Val	rs1309516215	missense variant	-	NC_000008.11:g.18222360A>G	gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile106Asn	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>A	TOPMed,gnomAD
NAT1	P18440	p.Ile106Phe	rs1227159696	missense variant	-	NC_000008.11:g.18222363A>T	TOPMed
NAT1	P18440	p.Ile106Met	rs751961199	missense variant	-	NC_000008.11:g.18222365T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile106Ser	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>G	TOPMed,gnomAD
NAT1	P18440	p.Leu108Arg	rs1192004687	missense variant	-	NC_000008.11:g.18222370T>G	gnomAD
NAT1	P18440	p.Leu108Ile	rs767910902	missense variant	-	NC_000008.11:g.18222369C>A	ExAC,gnomAD
NAT1	P18440	p.Gln111His	rs756584972	missense variant	-	NC_000008.11:g.18222380G>C	ExAC,gnomAD
NAT1	P18440	p.Gln111Leu	rs753271283	missense variant	-	NC_000008.11:g.18222379A>T	ExAC,gnomAD
NAT1	P18440	p.Val112Met	rs1170465216	missense variant	-	NC_000008.11:g.18222381G>A	gnomAD
NAT1	P18440	p.Thr113Ser	rs778415469	missense variant	-	NC_000008.11:g.18222385C>G	ExAC,gnomAD
NAT1	P18440	p.Thr113Ala	rs1232055758	missense variant	-	NC_000008.11:g.18222384A>G	TOPMed
NAT1	P18440	p.Ile114Thr	rs145975713	missense variant	-	NC_000008.11:g.18222388T>C	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Val	rs745340680	missense variant	-	NC_000008.11:g.18222387A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Asn	rs145975713	missense variant	-	NC_000008.11:g.18222388T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp115Glu	rs768399724	missense variant	-	NC_000008.11:g.18222392T>A	ExAC,gnomAD
NAT1	P18440	p.Gly116Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222393G>T	NCI-TCGA
NAT1	P18440	p.Gly116Asp	COSM1097648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222394G>A	NCI-TCGA Cosmic
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	UniProt,dbSNP
NAT1	P18440	p.Arg117Thr	VAR_009510	missense variant	-	NC_000008.11:g.18222397G>C	UniProt
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	-
NAT1	P18440	p.Asn118Ser	COSM3898575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222400A>G	NCI-TCGA Cosmic
NAT1	P18440	p.Asn118Lys	rs781100714	missense variant	-	NC_000008.11:g.18222401C>A	ExAC,gnomAD
NAT1	P18440	p.Tyr119His	rs748142921	missense variant	-	NC_000008.11:g.18222402T>C	ExAC,gnomAD
NAT1	P18440	p.Ile120Thr	rs777637715	missense variant	-	NC_000008.11:g.18222406T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Ser	rs777637715	missense variant	-	NC_000008.11:g.18222406T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Phe	rs769808211	missense variant	-	NC_000008.11:g.18222405A>T	ExAC,gnomAD
NAT1	P18440	p.Ile120Asn	rs777637715	missense variant	-	NC_000008.11:g.18222406T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala123Val	rs771202638	missense variant	-	NC_000008.11:g.18222415C>T	ExAC,gnomAD
NAT1	P18440	p.Phe125Ser	rs1166797430	missense variant	-	NC_000008.11:g.18222421T>C	TOPMed
NAT1	P18440	p.Arg127Leu	rs200857632	missense variant	-	NC_000008.11:g.18222427G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127His	rs200857632	missense variant	-	NC_000008.11:g.18222427G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127Cys	rs759800046	missense variant	-	NC_000008.11:g.18222426C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser128Leu	rs761199497	missense variant	-	NC_000008.11:g.18222430C>T	ExAC,gnomAD
NAT1	P18440	p.Tyr129Phe	rs548004925	missense variant	-	NC_000008.11:g.18222433A>T	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr129Cys	rs548004925	missense variant	-	NC_000008.11:g.18222433A>G	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln130His	rs376036465	missense variant	-	NC_000008.11:g.18222437G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Ter	rs754633858	stop gained	-	NC_000008.11:g.18222443G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Ter	rs1419034037	stop gained	-	NC_000008.11:g.18222442G>A	gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Arg	rs751206939	missense variant	-	NC_000008.11:g.18222441T>C	ExAC,gnomAD
NAT1	P18440	p.Gln133Ter	rs1346740720	stop gained	-	NC_000008.11:g.18222444C>T	gnomAD
NAT1	P18440	p.Pro134Ser	rs1431281350	missense variant	-	NC_000008.11:g.18222447C>T	gnomAD
NAT1	P18440	p.Pro134His	rs1037552428	missense variant	-	NC_000008.11:g.18222448C>A	TOPMed
NAT1	P18440	p.Glu136Lys	rs1443144991	missense variant	-	NC_000008.11:g.18222453G>A	gnomAD
NAT1	P18440	p.Glu136Asp	rs769863219	missense variant	-	NC_000008.11:g.18222455G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile138Thr	rs749235522	missense variant	-	NC_000008.11:g.18222460T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser139Tyr	rs1287040056	missense variant	-	NC_000008.11:g.18222463C>A	gnomAD
NAT1	P18440	p.Asp142Val	rs1239138621	missense variant	-	NC_000008.11:g.18222472A>T	TOPMed
NAT1	P18440	p.Asp142Tyr	rs770983742	missense variant	-	NC_000008.11:g.18222471G>T	ExAC,gnomAD
NAT1	P18440	p.Pro144Ser	rs774460271	missense variant	-	NC_000008.11:g.18222477C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln145His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222482G>T	NCI-TCGA
NAT1	P18440	p.Pro147Ser	rs529845573	missense variant	-	NC_000008.11:g.18222486C>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Cys148Arg	rs1390508874	missense variant	-	NC_000008.11:g.18222489T>C	TOPMed
NAT1	P18440	p.Val149Ile	RCV000455973	missense variant	-	NC_000008.11:g.18222492G>A	ClinVar
NAT1	P18440	p.Val149Ile	rs4987076	missense variant	-	NC_000008.11:g.18222492G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val149Leu	rs4987076	missense variant	-	NC_000008.11:g.18222492G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151His	rs370302501	missense variant	-	NC_000008.11:g.18222499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151Cys	rs760970670	missense variant	-	NC_000008.11:g.18222498C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151Pro	rs370302501	missense variant	-	NC_000008.11:g.18222499G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu152Trp	rs762346362	missense variant	-	NC_000008.11:g.18222502T>G	ExAC,gnomAD
NAT1	P18440	p.Thr153Met	rs374226986	missense variant	-	NC_000008.11:g.18222505C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr153Ala	rs1392495324	missense variant	-	NC_000008.11:g.18222504A>G	gnomAD
NAT1	P18440	p.Glu154Gln	rs566014052	missense variant	-	NC_000008.11:g.18222507G>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Glu154Ter	rs566014052	stop gained	-	NC_000008.11:g.18222507G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Glu155Asp	COSM1097649	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222512G>T	NCI-TCGA Cosmic
NAT1	P18440	p.Gly157Ter	rs752556604	stop gained	-	NC_000008.11:g.18222516G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly157Arg	COSM3834359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222516G>A	NCI-TCGA Cosmic
NAT1	P18440	p.Phe158Leu	rs756034918	missense variant	-	NC_000008.11:g.18222519T>C	ExAC,gnomAD
NAT1	P18440	p.Phe158Leu	rs1291836193	missense variant	-	NC_000008.11:g.18222521C>G	gnomAD
NAT1	P18440	p.Trp159Arg	rs1255063436	missense variant	-	NC_000008.11:g.18222522T>C	TOPMed
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu161Pro	rs554793519	missense variant	-	NC_000008.11:g.18222529T>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Leu161Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222528C>G	NCI-TCGA
NAT1	P18440	p.Asp162Glu	COSM1133826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222533C>G	NCI-TCGA Cosmic
NAT1	P18440	p.Arg165Lys	rs778884010	missense variant	-	NC_000008.11:g.18222541G>A	ExAC,gnomAD
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	missense variant	-	NC_000008.11:g.18222544_18222546inv	-
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt,dbSNP
NAT1	P18440	p.ArgGlu166ThrGln	VAR_009511	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt
NAT1	P18440	p.Gln168His	rs139028182	missense variant	-	NC_000008.11:g.18222551G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln168Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222550A>G	NCI-TCGA
NAT1	P18440	p.Gln168Pro	COSM1455891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222550A>C	NCI-TCGA Cosmic
NAT1	P18440	p.Tyr169Cys	rs775745792	missense variant	-	NC_000008.11:g.18222553A>G	ExAC,gnomAD
NAT1	P18440	p.Glu173Lys	rs1415403353	missense variant	-	NC_000008.11:g.18222564G>A	TOPMed,gnomAD
NAT1	P18440	p.Glu174Ter	rs371668421	stop gained	-	NC_000008.11:g.18222567G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu174Lys	rs371668421	missense variant	-	NC_000008.11:g.18222567G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe175Leu	rs762246777	missense variant	-	NC_000008.11:g.18222570T>C	ExAC,gnomAD
NAT1	P18440	p.Leu176Ile	rs765738013	missense variant	-	NC_000008.11:g.18222573C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu176Phe	rs765738013	missense variant	-	NC_000008.11:g.18222573C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His177Leu	rs773741828	missense variant	-	NC_000008.11:g.18222577A>T	ExAC,gnomAD
NAT1	P18440	p.Asp179Asn	rs1009215309	missense variant	-	NC_000008.11:g.18222582G>A	TOPMed
NAT1	P18440	p.Asp179Glu	rs1022148954	missense variant	-	NC_000008.11:g.18222584T>A	TOPMed
NAT1	P18440	p.Asp179Val	rs987151115	missense variant	-	NC_000008.11:g.18222583A>T	TOPMed
NAT1	P18440	p.Ser184Gly	rs1357745556	missense variant	-	NC_000008.11:g.18222597A>G	gnomAD
NAT1	P18440	p.Arg187Ter	rs5030839	stop gained	-	NC_000008.11:g.18222606C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg187Gln	rs4986782	missense variant	-	NC_000008.11:g.18222607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr190Asn	rs1017403408	missense variant	-	NC_000008.11:g.18222615T>A	gnomAD
NAT1	P18440	p.Ser191Phe	rs141552883	missense variant	-	NC_000008.11:g.18222619C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser191Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222619C>G	NCI-TCGA
NAT1	P18440	p.Phe192Val	rs1438261068	missense variant	-	NC_000008.11:g.18222621T>G	gnomAD
NAT1	P18440	p.Phe192Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222622T>G	NCI-TCGA
NAT1	P18440	p.Leu194Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222627C>G	NCI-TCGA
NAT1	P18440	p.Lys195Ter	rs1486518987	stop gained	-	NC_000008.11:g.18222630A>T	TOPMed,gnomAD
NAT1	P18440	p.Lys195Arg	rs1188424795	missense variant	-	NC_000008.11:g.18222631A>G	gnomAD
NAT1	P18440	p.Pro196Ser	rs757144152	missense variant	-	NC_000008.11:g.18222633C>T	ExAC,gnomAD
NAT1	P18440	p.Arg197Gly	rs778732687	missense variant	-	NC_000008.11:g.18222636C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg197Ter	rs778732687	stop gained	-	NC_000008.11:g.18222636C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg197Gln	rs1044890902	missense variant	-	NC_000008.11:g.18222637G>A	TOPMed,gnomAD
NAT1	P18440	p.Thr198Pro	rs1168975907	missense variant	-	NC_000008.11:g.18222639A>C	TOPMed,gnomAD
NAT1	P18440	p.Ile199Thr	rs144790969	missense variant	-	NC_000008.11:g.18222643T>C	ESP,ExAC,gnomAD
NAT1	P18440	p.Ile199Val	rs780073557	missense variant	-	NC_000008.11:g.18222642A>G	ExAC,gnomAD
NAT1	P18440	p.Asp201Val	rs768813958	missense variant	-	NC_000008.11:g.18222649A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp201Gly	rs768813958	missense variant	-	NC_000008.11:g.18222649A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu203Gln	rs1428225257	missense variant	-	NC_000008.11:g.18222654G>C	gnomAD
NAT1	P18440	p.Glu203Asp	rs776888648	missense variant	-	NC_000008.11:g.18222656G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser204Thr	rs1339465727	missense variant	-	NC_000008.11:g.18222657T>A	gnomAD
NAT1	P18440	p.Ser204Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222658C>T	NCI-TCGA
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	UniProt,dbSNP
NAT1	P18440	p.Met205Val	VAR_009070	missense variant	-	NC_000008.11:g.18222660A>G	UniProt
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met205Thr	rs1231690763	missense variant	-	NC_000008.11:g.18222661T>C	TOPMed
NAT1	P18440	p.Asn206Thr	rs1346668677	missense variant	-	NC_000008.11:g.18222664A>C	TOPMed
NAT1	P18440	p.Thr207Ile	rs4987195	missense variant	-	NC_000008.11:g.18222667C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr208His	rs773830510	missense variant	-	NC_000008.11:g.18222669T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu209Gln	rs763554945	missense variant	-	NC_000008.11:g.18222673T>A	ExAC,gnomAD
NAT1	P18440	p.Gln210Ter	rs767176233	stop gained	-	NC_000008.11:g.18222675C>T	ExAC,gnomAD
NAT1	P18440	p.Ser214Ala	rs4986783	missense variant	-	NC_000008.11:g.18222687T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe217Leu	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>C	gnomAD
NAT1	P18440	p.Phe217Val	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>G	gnomAD
NAT1	P18440	p.Thr218Asn	rs760427743	missense variant	-	NC_000008.11:g.18222700C>A	ExAC,gnomAD
NAT1	P18440	p.Lys220Ile	rs941561436	missense variant	-	NC_000008.11:g.18222706A>T	TOPMed
NAT1	P18440	p.Ser221Leu	rs1434378503	missense variant	-	NC_000008.11:g.18222709C>T	TOPMed
NAT1	P18440	p.Cys223Ser	rs753587469	missense variant	-	NC_000008.11:g.18222715G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Cys223Tyr	rs753587469	missense variant	-	NC_000008.11:g.18222715G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser224Phe	rs905333539	missense variant	-	NC_000008.11:g.18222718C>T	gnomAD
NAT1	P18440	p.Ser224Tyr	rs905333539	missense variant	-	NC_000008.11:g.18222718C>A	gnomAD
NAT1	P18440	p.Thr227Ser	rs1170029643	missense variant	-	NC_000008.11:g.18222727C>G	TOPMed
NAT1	P18440	p.Gly230Val	rs762091516	missense variant	-	NC_000008.11:g.18222736G>T	ExAC,gnomAD
NAT1	P18440	p.Gly230Arg	rs764935585	missense variant	-	NC_000008.11:g.18222735G>A	ExAC,gnomAD
NAT1	P18440	p.Gly230Glu	rs762091516	missense variant	-	NC_000008.11:g.18222736G>A	ExAC,gnomAD
NAT1	P18440	p.Val231Phe	rs201916736	missense variant	-	NC_000008.11:g.18222738G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Val231CysPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000008.11:g.18222736_18222737insATGTTAA	NCI-TCGA
NAT1	P18440	p.His232Gln	rs1437244884	missense variant	-	NC_000008.11:g.18222743C>G	gnomAD
NAT1	P18440	p.Cys233Gly	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>G	gnomAD
NAT1	P18440	p.Cys233Arg	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>C	gnomAD
NAT1	P18440	p.Thr240Ile	rs371915822	missense variant	-	NC_000008.11:g.18222766C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Pro	rs1468222480	missense variant	-	NC_000008.11:g.18222769A>C	gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Tyr	rs1285170236	missense variant	-	NC_000008.11:g.18222768C>T	gnomAD
NAT1	P18440	p.Arg242Gly	rs748308092	missense variant	-	NC_000008.11:g.18222771A>G	ExAC,gnomAD
NAT1	P18440	p.Arg242Lys	rs1346325688	missense variant	-	NC_000008.11:g.18222772G>A	gnomAD
NAT1	P18440	p.Tyr246Cys	rs201129487	missense variant	-	NC_000008.11:g.18222784A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Lys247Arg	COSM4898600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222787A>G	NCI-TCGA Cosmic
NAT1	P18440	p.Lys247Met	rs771519872	missense variant	-	NC_000008.11:g.18222787A>T	ExAC,TOPMed
NAT1	P18440	p.Asn249Asp	rs370049063	missense variant	-	NC_000008.11:g.18222792A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asn249Ser	rs768034302	missense variant	-	NC_000008.11:g.18222793A>G	ExAC,gnomAD
NAT1	P18440	p.Thr250Ile	rs776407561	missense variant	-	NC_000008.11:g.18222796C>T	ExAC,gnomAD
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	UniProt,dbSNP
NAT1	P18440	p.Asp251Val	VAR_009072	missense variant	-	NC_000008.11:g.18222799A>T	UniProt
NAT1	P18440	p.Leu252Ile	rs1357252117	missense variant	-	NC_000008.11:g.18222801C>A	TOPMed
NAT1	P18440	p.Glu254Asp	rs750169788	missense variant	-	NC_000008.11:g.18222809G>C	ExAC,gnomAD
NAT1	P18440	p.Glu254Gly	rs1193669448	missense variant	-	NC_000008.11:g.18222808A>G	TOPMed,gnomAD
NAT1	P18440	p.Leu258Pro	rs1333940244	missense variant	-	NC_000008.11:g.18222820T>C	gnomAD
NAT1	P18440	p.Leu258Val	rs762908192	missense variant	-	NC_000008.11:g.18222819C>G	ExAC
NAT1	P18440	p.Ser259Arg	rs4986991	missense variant	-	NC_000008.11:g.18222824T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu260Ala	rs759272916	missense variant	-	NC_000008.11:g.18222826A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	UniProt,dbSNP
NAT1	P18440	p.Glu261Lys	VAR_009073	missense variant	-	NC_000008.11:g.18222828G>A	UniProt
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu261Gly	rs1212053563	missense variant	-	NC_000008.11:g.18222829A>G	gnomAD
NAT1	P18440	p.Glu262Gln	rs1007452700	missense variant	-	NC_000008.11:g.18222831G>C	TOPMed,gnomAD
NAT1	P18440	p.Ile263Arg	COSM1097651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222835T>G	NCI-TCGA Cosmic
NAT1	P18440	p.Ile263Thr	rs753003232	missense variant	-	NC_000008.11:g.18222835T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	TOPMed
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	UniProt,dbSNP
NAT1	P18440	p.Ile263Val	VAR_009074	missense variant	-	NC_000008.11:g.18222834A>G	UniProt
NAT1	P18440	p.Glu264Gln	rs1017952816	missense variant	-	NC_000008.11:g.18222837G>C	TOPMed,gnomAD
NAT1	P18440	p.Val266Met	rs767117934	missense variant	-	NC_000008.11:g.18222843G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val266Leu	rs767117934	missense variant	-	NC_000008.11:g.18222843G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys268Glu	rs778308629	missense variant	-	NC_000008.11:g.18222849A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile270Met	rs771571411	missense variant	-	NC_000008.11:g.18222857A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile270Val	rs1162315885	missense variant	-	NC_000008.11:g.18222855A>G	TOPMed,gnomAD
NAT1	P18440	p.Phe271Leu	rs779619721	missense variant	-	NC_000008.11:g.18222858T>C	ExAC
NAT1	P18440	p.Ile273Thr	rs1029808953	missense variant	-	NC_000008.11:g.18222865T>C	TOPMed
NAT1	P18440	p.Ser274Cys	rs768248406	missense variant	-	NC_000008.11:g.18222868C>G	ExAC,gnomAD
NAT1	P18440	p.Leu275Phe	rs775977591	missense variant	-	NC_000008.11:g.18222872G>T	ExAC,gnomAD
NAT1	P18440	p.Gln276His	COSM4848479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.18222875G>C	NCI-TCGA Cosmic
NAT1	P18440	p.Lys278Asn	rs761549357	missense variant	-	NC_000008.11:g.18222881G>T	ExAC,gnomAD
NAT1	P18440	p.Val280Met	rs1329540913	missense variant	-	NC_000008.11:g.18222885G>A	gnomAD
NAT1	P18440	p.Pro281Thr	rs1231281905	missense variant	-	NC_000008.11:g.18222888C>A	gnomAD
NAT1	P18440	p.His283Arg	rs1014599491	missense variant	-	NC_000008.11:g.18222895A>G	TOPMed,gnomAD
NAT1	P18440	p.His283Asn	rs1004431924	missense variant	-	NC_000008.11:g.18222894C>A	TOPMed
NAT1	P18440	p.Gly284Asp	rs1389255907	missense variant	-	NC_000008.11:g.18222898G>A	gnomAD
NAT1	P18440	p.Gly284Ser	rs762676638	missense variant	-	NC_000008.11:g.18222897G>A	ExAC,gnomAD
NAT1	P18440	p.Gly284Arg	rs762676638	missense variant	-	NC_000008.11:g.18222897G>C	ExAC,gnomAD
NAT1	P18440	p.Arg286Ter	rs751565644	stop gained	-	NC_000008.11:g.18222903A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg286Gly	rs751565644	missense variant	-	NC_000008.11:g.18222903A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe287Ser	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>C	gnomAD
NAT1	P18440	p.Phe287Val	rs759361275	missense variant	-	NC_000008.11:g.18222906T>G	ExAC,gnomAD
NAT1	P18440	p.Phe287Tyr	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>A	gnomAD
NAT1	P18440	p.Thr289TyrPheSerTerUnk	rs761982912	frameshift	-	NC_000008.11:g.18222905_18222906insT	NCI-TCGA
NAT1	P18440	p.Thr289Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.18222912A>G	NCI-TCGA
NAT1	P18440	p.Ile290Val	rs529715867	missense variant	-	NC_000008.11:g.18222915A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Ter291Gln	rs1401778047	stop lost	-	NC_000008.11:g.18222918T>C	TOPMed
NAT1	P18440	p.Asp2Gly	rs1182777627	missense variant	-	NC_000008.11:g.18222052A>G	gnomAD
NAT1	P18440	p.Ile3Val	rs868623536	missense variant	-	NC_000008.11:g.18222054A>G	gnomAD
NAT1	P18440	p.Ile3Leu	rs868623536	missense variant	-	NC_000008.11:g.18222054A>C	gnomAD
NAT1	P18440	p.Ala5Glu	rs1372783672	missense variant	-	NC_000008.11:g.18222061C>A	TOPMed
NAT1	P18440	p.Arg9Ile	rs772568722	missense variant	-	NC_000008.11:g.18222073G>T	ExAC,gnomAD
NAT1	P18440	p.Ile10Thr	rs762718093	missense variant	-	NC_000008.11:g.18222076T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile10Asn	rs762718093	missense variant	-	NC_000008.11:g.18222076T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg16Ser	rs770525399	missense variant	-	NC_000008.11:g.18222095G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp20Tyr	rs759261556	missense variant	-	NC_000008.11:g.18222105G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp20Val	rs1456672837	missense variant	-	NC_000008.11:g.18222106A>T	gnomAD
NAT1	P18440	p.Leu21Val	rs767455795	missense variant	-	NC_000008.11:g.18222108T>G	ExAC,gnomAD
NAT1	P18440	p.Glu22Lys	rs1318508898	missense variant	-	NC_000008.11:g.18222111G>A	gnomAD
NAT1	P18440	p.Thr23Ala	rs767121351	missense variant	-	NC_000008.11:g.18222114A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu28Ile	rs764281519	missense variant	-	NC_000008.11:g.18222129C>A	ExAC,gnomAD
NAT1	P18440	p.His30Asn	rs867938850	missense variant	-	NC_000008.11:g.18222135C>A	gnomAD
NAT1	P18440	p.His30Leu	rs1455332072	missense variant	-	NC_000008.11:g.18222136A>T	TOPMed
NAT1	P18440	p.His30Tyr	rs867938850	missense variant	-	NC_000008.11:g.18222135C>T	gnomAD
NAT1	P18440	p.Gln31Arg	rs369130089	missense variant	-	NC_000008.11:g.18222139A>G	ESP,ExAC,gnomAD
NAT1	P18440	p.Ile32Phe	rs757584542	missense variant	-	NC_000008.11:g.18222141A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Leu	rs757584542	missense variant	-	NC_000008.11:g.18222141A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Val	rs757584542	missense variant	-	NC_000008.11:g.18222141A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Ter	rs56318881	stop gained	-	NC_000008.11:g.18222144C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Gln	rs111848753	missense variant	-	NC_000008.11:g.18222145G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala34Ser	rs758889084	missense variant	-	NC_000008.11:g.18222147G>T	ExAC,gnomAD
NAT1	P18440	p.Pro36Ala	rs1231619198	missense variant	-	NC_000008.11:g.18222153C>G	gnomAD
NAT1	P18440	p.Asn41His	rs780275360	missense variant	-	NC_000008.11:g.18222168A>C	ExAC,gnomAD
NAT1	P18440	p.Asn41Asp	rs780275360	missense variant	-	NC_000008.11:g.18222168A>G	ExAC,gnomAD
NAT1	P18440	p.Ile42Thr	rs1355361339	missense variant	-	NC_000008.11:g.18222172T>C	gnomAD
NAT1	P18440	p.His43Asn	rs747595397	missense variant	-	NC_000008.11:g.18222174C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His43Tyr	rs747595397	missense variant	-	NC_000008.11:g.18222174C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly45Arg	rs181298696	missense variant	-	NC_000008.11:g.18222180G>A	1000Genomes,TOPMed
NAT1	P18440	p.Gly45Trp	rs181298696	missense variant	-	NC_000008.11:g.18222180G>T	1000Genomes,TOPMed
NAT1	P18440	p.Gly45Val	rs1236531495	missense variant	-	NC_000008.11:g.18222181G>T	TOPMed
NAT1	P18440	p.Met48Ile	rs769023535	missense variant	-	NC_000008.11:g.18222191G>A	ExAC,gnomAD
NAT1	P18440	p.Leu52Ile	rs777369440	missense variant	-	NC_000008.11:g.18222201T>A	ExAC,gnomAD
NAT1	P18440	p.Ala54Val	rs1302880344	missense variant	-	NC_000008.11:g.18222208C>T	TOPMed
NAT1	P18440	p.Phe56Leu	rs748760955	missense variant	-	NC_000008.11:g.18222215T>G	ExAC,gnomAD
NAT1	P18440	p.Gln58His	rs770576147	missense variant	-	NC_000008.11:g.18222221A>T	ExAC,gnomAD
NAT1	P18440	p.Val59Ala	rs745507855	missense variant	-	NC_000008.11:g.18222223T>C	ExAC,gnomAD
NAT1	P18440	p.Val59Leu	rs373598025	missense variant	-	NC_000008.11:g.18222222G>C	ESP,ExAC
NAT1	P18440	p.Val60Leu	rs1368442859	missense variant	-	NC_000008.11:g.18222225G>C	TOPMed,gnomAD
NAT1	P18440	p.Arg62Ile	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>T	TOPMed,gnomAD
NAT1	P18440	p.Arg62Thr	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>C	TOPMed,gnomAD
NAT1	P18440	p.Asn63Ser	rs1453728176	missense variant	-	NC_000008.11:g.18222235A>G	TOPMed
NAT1	P18440	p.Arg64Trp	RCV000239134	missense variant	-	NC_000008.11:g.18222237C>T	ClinVar
NAT1	P18440	p.Arg64Trp	rs56379106	missense variant	-	NC_000008.11:g.18222237C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg64Gln	rs138061602	missense variant	-	NC_000008.11:g.18222238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly65Asp	rs1435979876	missense variant	-	NC_000008.11:g.18222241G>A	TOPMed
NAT1	P18440	p.Gly66Glu	rs1392888904	missense variant	-	NC_000008.11:g.18222244G>A	TOPMed
NAT1	P18440	p.Gly66Arg	rs760682628	missense variant	-	NC_000008.11:g.18222243G>A	ExAC,gnomAD
NAT1	P18440	p.Trp67Arg	rs1374012381	missense variant	-	NC_000008.11:g.18222246T>C	gnomAD
NAT1	P18440	p.Trp67Cys	rs200617057	missense variant	-	NC_000008.11:g.18222248G>C	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp67Ter	rs1172703660	stop gained	-	NC_000008.11:g.18222247G>A	TOPMed
NAT1	P18440	p.Trp67Ter	rs200617057	stop gained	-	NC_000008.11:g.18222248G>A	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu75Val	rs1242293172	missense variant	-	NC_000008.11:g.18222270C>G	gnomAD
NAT1	P18440	p.Tyr76Ter	rs758659369	stop gained	-	NC_000008.11:g.18222275C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr76Phe	rs1184525084	missense variant	-	NC_000008.11:g.18222274A>T	TOPMed
NAT1	P18440	p.Tyr76His	rs1274840625	missense variant	-	NC_000008.11:g.18222273T>C	TOPMed,gnomAD
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Ter	rs899099033	stop gained	-	NC_000008.11:g.18222277G>A	TOPMed
NAT1	P18440	p.Trp77Ter	rs766818967	stop gained	-	NC_000008.11:g.18222278G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr81Ala	rs1196494896	missense variant	-	NC_000008.11:g.18222288A>G	gnomAD
NAT1	P18440	p.Ile82Val	rs878972721	missense variant	-	NC_000008.11:g.18222291A>G	gnomAD
NAT1	P18440	p.Ile82Thr	rs781488745	missense variant	-	NC_000008.11:g.18222292T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile82Asn	rs781488745	missense variant	-	NC_000008.11:g.18222292T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr86Ala	rs1293918771	missense variant	-	NC_000008.11:g.18222303A>G	TOPMed
NAT1	P18440	p.Thr86Ser	rs1472009345	missense variant	-	NC_000008.11:g.18222304C>G	TOPMed,gnomAD
NAT1	P18440	p.Thr87Met	rs377662129	missense variant	-	NC_000008.11:g.18222307C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu89Ter	rs745561037	stop gained	-	NC_000008.11:g.18222313T>A	ExAC,gnomAD
NAT1	P18440	p.Gly90Ala	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>C	TOPMed
NAT1	P18440	p.Gly90Glu	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>A	TOPMed
NAT1	P18440	p.Gly91Trp	rs906486901	missense variant	-	NC_000008.11:g.18222318G>T	TOPMed
NAT1	P18440	p.Tyr92Cys	rs771574299	missense variant	-	NC_000008.11:g.18222322A>G	ExAC
NAT1	P18440	p.Val93Phe	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>T	TOPMed,gnomAD
NAT1	P18440	p.Val93Leu	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>C	TOPMed,gnomAD
NAT1	P18440	p.Thr96Ile	rs746715596	missense variant	-	NC_000008.11:g.18222334C>T	ExAC,gnomAD
NAT1	P18440	p.Pro97Ala	rs142535782	missense variant	-	NC_000008.11:g.18222336C>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Val	rs776486965	missense variant	-	NC_000008.11:g.18222340C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Gly	rs776486965	missense variant	-	NC_000008.11:g.18222340C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys99Asn	rs1355837022	missense variant	-	NC_000008.11:g.18222344A>C	gnomAD
NAT1	P18440	p.Lys99Arg	rs1294831136	missense variant	-	NC_000008.11:g.18222343A>G	gnomAD
NAT1	P18440	p.Lys100Asn	rs956774819	missense variant	-	NC_000008.11:g.18222347A>C	TOPMed
NAT1	P18440	p.Thr103Ala	rs1256959731	missense variant	-	NC_000008.11:g.18222354A>G	TOPMed
NAT1	P18440	p.Gly104Ser	rs761834764	missense variant	-	NC_000008.11:g.18222357G>A	ExAC,gnomAD
NAT1	P18440	p.Gly104Asp	rs765445123	missense variant	-	NC_000008.11:g.18222358G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly104Val	rs765445123	missense variant	-	NC_000008.11:g.18222358G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Val	rs1309516215	missense variant	-	NC_000008.11:g.18222360A>G	gnomAD
NAT1	P18440	p.Met105Arg	rs1228183829	missense variant	-	NC_000008.11:g.18222361T>G	gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile106Asn	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>A	TOPMed,gnomAD
NAT1	P18440	p.Ile106Phe	rs1227159696	missense variant	-	NC_000008.11:g.18222363A>T	TOPMed
NAT1	P18440	p.Ile106Ser	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>G	TOPMed,gnomAD
NAT1	P18440	p.Ile106Met	rs751961199	missense variant	-	NC_000008.11:g.18222365T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu108Arg	rs1192004687	missense variant	-	NC_000008.11:g.18222370T>G	gnomAD
NAT1	P18440	p.Leu108Ile	rs767910902	missense variant	-	NC_000008.11:g.18222369C>A	ExAC,gnomAD
NAT1	P18440	p.Gln111Leu	rs753271283	missense variant	-	NC_000008.11:g.18222379A>T	ExAC,gnomAD
NAT1	P18440	p.Gln111His	rs756584972	missense variant	-	NC_000008.11:g.18222380G>C	ExAC,gnomAD
NAT1	P18440	p.Val112Met	rs1170465216	missense variant	-	NC_000008.11:g.18222381G>A	gnomAD
NAT1	P18440	p.Thr113Ser	rs778415469	missense variant	-	NC_000008.11:g.18222385C>G	ExAC,gnomAD
NAT1	P18440	p.Thr113Ala	rs1232055758	missense variant	-	NC_000008.11:g.18222384A>G	TOPMed
NAT1	P18440	p.Ile114Thr	rs145975713	missense variant	-	NC_000008.11:g.18222388T>C	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Val	rs745340680	missense variant	-	NC_000008.11:g.18222387A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Asn	rs145975713	missense variant	-	NC_000008.11:g.18222388T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp115Glu	rs768399724	missense variant	-	NC_000008.11:g.18222392T>A	ExAC,gnomAD
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	UniProt,dbSNP
NAT1	P18440	p.Arg117Thr	VAR_009510	missense variant	-	NC_000008.11:g.18222397G>C	UniProt
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	-
NAT1	P18440	p.Asn118Lys	rs781100714	missense variant	-	NC_000008.11:g.18222401C>A	ExAC,gnomAD
NAT1	P18440	p.Tyr119His	rs748142921	missense variant	-	NC_000008.11:g.18222402T>C	ExAC,gnomAD
NAT1	P18440	p.Ile120Thr	rs777637715	missense variant	-	NC_000008.11:g.18222406T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Ser	rs777637715	missense variant	-	NC_000008.11:g.18222406T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Phe	rs769808211	missense variant	-	NC_000008.11:g.18222405A>T	ExAC,gnomAD
NAT1	P18440	p.Ile120Asn	rs777637715	missense variant	-	NC_000008.11:g.18222406T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala123Val	rs771202638	missense variant	-	NC_000008.11:g.18222415C>T	ExAC,gnomAD
NAT1	P18440	p.Phe125Ser	rs1166797430	missense variant	-	NC_000008.11:g.18222421T>C	TOPMed
NAT1	P18440	p.Arg127Cys	rs759800046	missense variant	-	NC_000008.11:g.18222426C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127His	rs200857632	missense variant	-	NC_000008.11:g.18222427G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127Leu	rs200857632	missense variant	-	NC_000008.11:g.18222427G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser128Leu	rs761199497	missense variant	-	NC_000008.11:g.18222430C>T	ExAC,gnomAD
NAT1	P18440	p.Tyr129Cys	rs548004925	missense variant	-	NC_000008.11:g.18222433A>G	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr129Phe	rs548004925	missense variant	-	NC_000008.11:g.18222433A>T	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln130His	rs376036465	missense variant	-	NC_000008.11:g.18222437G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Ter	rs754633858	stop gained	-	NC_000008.11:g.18222443G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Ter	rs1419034037	stop gained	-	NC_000008.11:g.18222442G>A	gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Arg	rs751206939	missense variant	-	NC_000008.11:g.18222441T>C	ExAC,gnomAD
NAT1	P18440	p.Gln133Ter	rs1346740720	stop gained	-	NC_000008.11:g.18222444C>T	gnomAD
NAT1	P18440	p.Pro134Ser	rs1431281350	missense variant	-	NC_000008.11:g.18222447C>T	gnomAD
NAT1	P18440	p.Pro134His	rs1037552428	missense variant	-	NC_000008.11:g.18222448C>A	TOPMed
NAT1	P18440	p.Glu136Lys	rs1443144991	missense variant	-	NC_000008.11:g.18222453G>A	gnomAD
NAT1	P18440	p.Glu136Asp	rs769863219	missense variant	-	NC_000008.11:g.18222455G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile138Thr	rs749235522	missense variant	-	NC_000008.11:g.18222460T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser139Tyr	rs1287040056	missense variant	-	NC_000008.11:g.18222463C>A	gnomAD
NAT1	P18440	p.Asp142Val	rs1239138621	missense variant	-	NC_000008.11:g.18222472A>T	TOPMed
NAT1	P18440	p.Asp142Tyr	rs770983742	missense variant	-	NC_000008.11:g.18222471G>T	ExAC,gnomAD
NAT1	P18440	p.Pro144Ser	rs774460271	missense variant	-	NC_000008.11:g.18222477C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Pro147Ser	rs529845573	missense variant	-	NC_000008.11:g.18222486C>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Cys148Arg	rs1390508874	missense variant	-	NC_000008.11:g.18222489T>C	TOPMed
NAT1	P18440	p.Val149Ile	rs4987076	missense variant	-	NC_000008.11:g.18222492G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val149Leu	rs4987076	missense variant	-	NC_000008.11:g.18222492G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val149Ile	RCV000455973	missense variant	-	NC_000008.11:g.18222492G>A	ClinVar
NAT1	P18440	p.Arg151His	rs370302501	missense variant	-	NC_000008.11:g.18222499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151Pro	rs370302501	missense variant	-	NC_000008.11:g.18222499G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151Cys	rs760970670	missense variant	-	NC_000008.11:g.18222498C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu152Trp	rs762346362	missense variant	-	NC_000008.11:g.18222502T>G	ExAC,gnomAD
NAT1	P18440	p.Thr153Met	rs374226986	missense variant	-	NC_000008.11:g.18222505C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr153Ala	rs1392495324	missense variant	-	NC_000008.11:g.18222504A>G	gnomAD
NAT1	P18440	p.Glu154Gln	rs566014052	missense variant	-	NC_000008.11:g.18222507G>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Glu154Ter	rs566014052	stop gained	-	NC_000008.11:g.18222507G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Gly157Ter	rs752556604	stop gained	-	NC_000008.11:g.18222516G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe158Leu	rs756034918	missense variant	-	NC_000008.11:g.18222519T>C	ExAC,gnomAD
NAT1	P18440	p.Phe158Leu	rs1291836193	missense variant	-	NC_000008.11:g.18222521C>G	gnomAD
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp159Arg	rs1255063436	missense variant	-	NC_000008.11:g.18222522T>C	TOPMed
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu161Pro	rs554793519	missense variant	-	NC_000008.11:g.18222529T>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Arg165Lys	rs778884010	missense variant	-	NC_000008.11:g.18222541G>A	ExAC,gnomAD
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt,dbSNP
NAT1	P18440	p.ArgGlu166ThrGln	VAR_009511	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	missense variant	-	NC_000008.11:g.18222544_18222546inv	-
NAT1	P18440	p.Gln168His	rs139028182	missense variant	-	NC_000008.11:g.18222551G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr169Cys	rs775745792	missense variant	-	NC_000008.11:g.18222553A>G	ExAC,gnomAD
NAT1	P18440	p.Glu173Lys	rs1415403353	missense variant	-	NC_000008.11:g.18222564G>A	TOPMed,gnomAD
NAT1	P18440	p.Glu174Ter	rs371668421	stop gained	-	NC_000008.11:g.18222567G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu174Lys	rs371668421	missense variant	-	NC_000008.11:g.18222567G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe175Leu	rs762246777	missense variant	-	NC_000008.11:g.18222570T>C	ExAC,gnomAD
NAT1	P18440	p.Leu176Ile	rs765738013	missense variant	-	NC_000008.11:g.18222573C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu176Phe	rs765738013	missense variant	-	NC_000008.11:g.18222573C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His177Leu	rs773741828	missense variant	-	NC_000008.11:g.18222577A>T	ExAC,gnomAD
NAT1	P18440	p.Asp179Asn	rs1009215309	missense variant	-	NC_000008.11:g.18222582G>A	TOPMed
NAT1	P18440	p.Asp179Glu	rs1022148954	missense variant	-	NC_000008.11:g.18222584T>A	TOPMed
NAT1	P18440	p.Asp179Val	rs987151115	missense variant	-	NC_000008.11:g.18222583A>T	TOPMed
NAT1	P18440	p.Ser184Gly	rs1357745556	missense variant	-	NC_000008.11:g.18222597A>G	gnomAD
NAT1	P18440	p.Arg187Gln	rs4986782	missense variant	-	NC_000008.11:g.18222607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg187Ter	rs5030839	stop gained	-	NC_000008.11:g.18222606C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr190Asn	rs1017403408	missense variant	-	NC_000008.11:g.18222615T>A	gnomAD
NAT1	P18440	p.Ser191Phe	rs141552883	missense variant	-	NC_000008.11:g.18222619C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe192Val	rs1438261068	missense variant	-	NC_000008.11:g.18222621T>G	gnomAD
NAT1	P18440	p.Lys195Ter	rs1486518987	stop gained	-	NC_000008.11:g.18222630A>T	TOPMed,gnomAD
NAT1	P18440	p.Lys195Arg	rs1188424795	missense variant	-	NC_000008.11:g.18222631A>G	gnomAD
NAT1	P18440	p.Pro196Ser	rs757144152	missense variant	-	NC_000008.11:g.18222633C>T	ExAC,gnomAD
NAT1	P18440	p.Arg197Gly	rs778732687	missense variant	-	NC_000008.11:g.18222636C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg197Ter	rs778732687	stop gained	-	NC_000008.11:g.18222636C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg197Gln	rs1044890902	missense variant	-	NC_000008.11:g.18222637G>A	TOPMed,gnomAD
NAT1	P18440	p.Thr198Pro	rs1168975907	missense variant	-	NC_000008.11:g.18222639A>C	TOPMed,gnomAD
NAT1	P18440	p.Ile199Val	rs780073557	missense variant	-	NC_000008.11:g.18222642A>G	ExAC,gnomAD
NAT1	P18440	p.Ile199Thr	rs144790969	missense variant	-	NC_000008.11:g.18222643T>C	ESP,ExAC,gnomAD
NAT1	P18440	p.Asp201Val	rs768813958	missense variant	-	NC_000008.11:g.18222649A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp201Gly	rs768813958	missense variant	-	NC_000008.11:g.18222649A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu203Gln	rs1428225257	missense variant	-	NC_000008.11:g.18222654G>C	gnomAD
NAT1	P18440	p.Glu203Asp	rs776888648	missense variant	-	NC_000008.11:g.18222656G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser204Thr	rs1339465727	missense variant	-	NC_000008.11:g.18222657T>A	gnomAD
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	UniProt,dbSNP
NAT1	P18440	p.Met205Val	VAR_009070	missense variant	-	NC_000008.11:g.18222660A>G	UniProt
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met205Thr	rs1231690763	missense variant	-	NC_000008.11:g.18222661T>C	TOPMed
NAT1	P18440	p.Asn206Thr	rs1346668677	missense variant	-	NC_000008.11:g.18222664A>C	TOPMed
NAT1	P18440	p.Thr207Ile	rs4987195	missense variant	-	NC_000008.11:g.18222667C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr208His	rs773830510	missense variant	-	NC_000008.11:g.18222669T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu209Gln	rs763554945	missense variant	-	NC_000008.11:g.18222673T>A	ExAC,gnomAD
NAT1	P18440	p.Gln210Ter	rs767176233	stop gained	-	NC_000008.11:g.18222675C>T	ExAC,gnomAD
NAT1	P18440	p.Ser214Ala	rs4986783	missense variant	-	NC_000008.11:g.18222687T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe217Val	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>G	gnomAD
NAT1	P18440	p.Phe217Leu	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>C	gnomAD
NAT1	P18440	p.Thr218Asn	rs760427743	missense variant	-	NC_000008.11:g.18222700C>A	ExAC,gnomAD
NAT1	P18440	p.Lys220Ile	rs941561436	missense variant	-	NC_000008.11:g.18222706A>T	TOPMed
NAT1	P18440	p.Ser221Leu	rs1434378503	missense variant	-	NC_000008.11:g.18222709C>T	TOPMed
NAT1	P18440	p.Cys223Ser	rs753587469	missense variant	-	NC_000008.11:g.18222715G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Cys223Tyr	rs753587469	missense variant	-	NC_000008.11:g.18222715G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser224Phe	rs905333539	missense variant	-	NC_000008.11:g.18222718C>T	gnomAD
NAT1	P18440	p.Ser224Tyr	rs905333539	missense variant	-	NC_000008.11:g.18222718C>A	gnomAD
NAT1	P18440	p.Thr227Ser	rs1170029643	missense variant	-	NC_000008.11:g.18222727C>G	TOPMed
NAT1	P18440	p.Gly230Arg	rs764935585	missense variant	-	NC_000008.11:g.18222735G>A	ExAC,gnomAD
NAT1	P18440	p.Gly230Val	rs762091516	missense variant	-	NC_000008.11:g.18222736G>T	ExAC,gnomAD
NAT1	P18440	p.Gly230Glu	rs762091516	missense variant	-	NC_000008.11:g.18222736G>A	ExAC,gnomAD
NAT1	P18440	p.Val231Phe	rs201916736	missense variant	-	NC_000008.11:g.18222738G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.His232Gln	rs1437244884	missense variant	-	NC_000008.11:g.18222743C>G	gnomAD
NAT1	P18440	p.Cys233Gly	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>G	gnomAD
NAT1	P18440	p.Cys233Arg	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>C	gnomAD
NAT1	P18440	p.Thr240Ile	rs371915822	missense variant	-	NC_000008.11:g.18222766C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Pro	rs1468222480	missense variant	-	NC_000008.11:g.18222769A>C	gnomAD
NAT1	P18440	p.His241Tyr	rs1285170236	missense variant	-	NC_000008.11:g.18222768C>T	gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg242Gly	rs748308092	missense variant	-	NC_000008.11:g.18222771A>G	ExAC,gnomAD
NAT1	P18440	p.Arg242Lys	rs1346325688	missense variant	-	NC_000008.11:g.18222772G>A	gnomAD
NAT1	P18440	p.Tyr246Cys	rs201129487	missense variant	-	NC_000008.11:g.18222784A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Lys247Met	rs771519872	missense variant	-	NC_000008.11:g.18222787A>T	ExAC,TOPMed
NAT1	P18440	p.Asn249Asp	rs370049063	missense variant	-	NC_000008.11:g.18222792A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asn249Ser	rs768034302	missense variant	-	NC_000008.11:g.18222793A>G	ExAC,gnomAD
NAT1	P18440	p.Thr250Ile	rs776407561	missense variant	-	NC_000008.11:g.18222796C>T	ExAC,gnomAD
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	UniProt,dbSNP
NAT1	P18440	p.Asp251Val	VAR_009072	missense variant	-	NC_000008.11:g.18222799A>T	UniProt
NAT1	P18440	p.Leu252Ile	rs1357252117	missense variant	-	NC_000008.11:g.18222801C>A	TOPMed
NAT1	P18440	p.Glu254Asp	rs750169788	missense variant	-	NC_000008.11:g.18222809G>C	ExAC,gnomAD
NAT1	P18440	p.Glu254Gly	rs1193669448	missense variant	-	NC_000008.11:g.18222808A>G	TOPMed,gnomAD
NAT1	P18440	p.Leu258Pro	rs1333940244	missense variant	-	NC_000008.11:g.18222820T>C	gnomAD
NAT1	P18440	p.Leu258Val	rs762908192	missense variant	-	NC_000008.11:g.18222819C>G	ExAC
NAT1	P18440	p.Ser259Arg	rs4986991	missense variant	-	NC_000008.11:g.18222824T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu260Ala	rs759272916	missense variant	-	NC_000008.11:g.18222826A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	UniProt,dbSNP
NAT1	P18440	p.Glu261Lys	VAR_009073	missense variant	-	NC_000008.11:g.18222828G>A	UniProt
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu261Gly	rs1212053563	missense variant	-	NC_000008.11:g.18222829A>G	gnomAD
NAT1	P18440	p.Glu262Gln	rs1007452700	missense variant	-	NC_000008.11:g.18222831G>C	TOPMed,gnomAD
NAT1	P18440	p.Ile263Thr	rs753003232	missense variant	-	NC_000008.11:g.18222835T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	TOPMed
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	UniProt,dbSNP
NAT1	P18440	p.Ile263Val	VAR_009074	missense variant	-	NC_000008.11:g.18222834A>G	UniProt
NAT1	P18440	p.Glu264Gln	rs1017952816	missense variant	-	NC_000008.11:g.18222837G>C	TOPMed,gnomAD
NAT1	P18440	p.Val266Leu	rs767117934	missense variant	-	NC_000008.11:g.18222843G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val266Met	rs767117934	missense variant	-	NC_000008.11:g.18222843G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys268Glu	rs778308629	missense variant	-	NC_000008.11:g.18222849A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile270Met	rs771571411	missense variant	-	NC_000008.11:g.18222857A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile270Val	rs1162315885	missense variant	-	NC_000008.11:g.18222855A>G	TOPMed,gnomAD
NAT1	P18440	p.Phe271Leu	rs779619721	missense variant	-	NC_000008.11:g.18222858T>C	ExAC
NAT1	P18440	p.Ile273Thr	rs1029808953	missense variant	-	NC_000008.11:g.18222865T>C	TOPMed
NAT1	P18440	p.Ser274Cys	rs768248406	missense variant	-	NC_000008.11:g.18222868C>G	ExAC,gnomAD
NAT1	P18440	p.Leu275Phe	rs775977591	missense variant	-	NC_000008.11:g.18222872G>T	ExAC,gnomAD
NAT1	P18440	p.Lys278Asn	rs761549357	missense variant	-	NC_000008.11:g.18222881G>T	ExAC,gnomAD
NAT1	P18440	p.Val280Met	rs1329540913	missense variant	-	NC_000008.11:g.18222885G>A	gnomAD
NAT1	P18440	p.Pro281Thr	rs1231281905	missense variant	-	NC_000008.11:g.18222888C>A	gnomAD
NAT1	P18440	p.His283Arg	rs1014599491	missense variant	-	NC_000008.11:g.18222895A>G	TOPMed,gnomAD
NAT1	P18440	p.His283Asn	rs1004431924	missense variant	-	NC_000008.11:g.18222894C>A	TOPMed
NAT1	P18440	p.Gly284Asp	rs1389255907	missense variant	-	NC_000008.11:g.18222898G>A	gnomAD
NAT1	P18440	p.Gly284Arg	rs762676638	missense variant	-	NC_000008.11:g.18222897G>C	ExAC,gnomAD
NAT1	P18440	p.Gly284Ser	rs762676638	missense variant	-	NC_000008.11:g.18222897G>A	ExAC,gnomAD
NAT1	P18440	p.Arg286Gly	rs751565644	missense variant	-	NC_000008.11:g.18222903A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg286Ter	rs751565644	stop gained	-	NC_000008.11:g.18222903A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe287Ser	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>C	gnomAD
NAT1	P18440	p.Phe287Val	rs759361275	missense variant	-	NC_000008.11:g.18222906T>G	ExAC,gnomAD
NAT1	P18440	p.Phe287Tyr	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>A	gnomAD
NAT1	P18440	p.Ile290Val	rs529715867	missense variant	-	NC_000008.11:g.18222915A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Ter291Gln	rs1401778047	stop lost	-	NC_000008.11:g.18222918T>C	TOPMed
NAT1	P18440	p.Asp2Gly	rs1182777627	missense variant	-	NC_000008.11:g.18222052A>G	gnomAD
NAT1	P18440	p.Ile3Val	rs868623536	missense variant	-	NC_000008.11:g.18222054A>G	gnomAD
NAT1	P18440	p.Ile3Leu	rs868623536	missense variant	-	NC_000008.11:g.18222054A>C	gnomAD
NAT1	P18440	p.Ala5Glu	rs1372783672	missense variant	-	NC_000008.11:g.18222061C>A	TOPMed
NAT1	P18440	p.Arg9Ile	rs772568722	missense variant	-	NC_000008.11:g.18222073G>T	ExAC,gnomAD
NAT1	P18440	p.Ile10Asn	rs762718093	missense variant	-	NC_000008.11:g.18222076T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile10Thr	rs762718093	missense variant	-	NC_000008.11:g.18222076T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg16Ser	rs770525399	missense variant	-	NC_000008.11:g.18222095G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp20Val	rs1456672837	missense variant	-	NC_000008.11:g.18222106A>T	gnomAD
NAT1	P18440	p.Asp20Tyr	rs759261556	missense variant	-	NC_000008.11:g.18222105G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu21Val	rs767455795	missense variant	-	NC_000008.11:g.18222108T>G	ExAC,gnomAD
NAT1	P18440	p.Glu22Lys	rs1318508898	missense variant	-	NC_000008.11:g.18222111G>A	gnomAD
NAT1	P18440	p.Thr23Ala	rs767121351	missense variant	-	NC_000008.11:g.18222114A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu28Ile	rs764281519	missense variant	-	NC_000008.11:g.18222129C>A	ExAC,gnomAD
NAT1	P18440	p.His30Leu	rs1455332072	missense variant	-	NC_000008.11:g.18222136A>T	TOPMed
NAT1	P18440	p.His30Tyr	rs867938850	missense variant	-	NC_000008.11:g.18222135C>T	gnomAD
NAT1	P18440	p.His30Asn	rs867938850	missense variant	-	NC_000008.11:g.18222135C>A	gnomAD
NAT1	P18440	p.Gln31Arg	rs369130089	missense variant	-	NC_000008.11:g.18222139A>G	ESP,ExAC,gnomAD
NAT1	P18440	p.Ile32Val	rs757584542	missense variant	-	NC_000008.11:g.18222141A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Phe	rs757584542	missense variant	-	NC_000008.11:g.18222141A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Leu	rs757584542	missense variant	-	NC_000008.11:g.18222141A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Ter	rs56318881	stop gained	-	NC_000008.11:g.18222144C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Gln	rs111848753	missense variant	-	NC_000008.11:g.18222145G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala34Ser	rs758889084	missense variant	-	NC_000008.11:g.18222147G>T	ExAC,gnomAD
NAT1	P18440	p.Pro36Ala	rs1231619198	missense variant	-	NC_000008.11:g.18222153C>G	gnomAD
NAT1	P18440	p.Asn41Asp	rs780275360	missense variant	-	NC_000008.11:g.18222168A>G	ExAC,gnomAD
NAT1	P18440	p.Asn41His	rs780275360	missense variant	-	NC_000008.11:g.18222168A>C	ExAC,gnomAD
NAT1	P18440	p.Ile42Thr	rs1355361339	missense variant	-	NC_000008.11:g.18222172T>C	gnomAD
NAT1	P18440	p.His43Tyr	rs747595397	missense variant	-	NC_000008.11:g.18222174C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His43Asn	rs747595397	missense variant	-	NC_000008.11:g.18222174C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly45Trp	rs181298696	missense variant	-	NC_000008.11:g.18222180G>T	1000Genomes,TOPMed
NAT1	P18440	p.Gly45Val	rs1236531495	missense variant	-	NC_000008.11:g.18222181G>T	TOPMed
NAT1	P18440	p.Gly45Arg	rs181298696	missense variant	-	NC_000008.11:g.18222180G>A	1000Genomes,TOPMed
NAT1	P18440	p.Met48Ile	rs769023535	missense variant	-	NC_000008.11:g.18222191G>A	ExAC,gnomAD
NAT1	P18440	p.Leu52Ile	rs777369440	missense variant	-	NC_000008.11:g.18222201T>A	ExAC,gnomAD
NAT1	P18440	p.Ala54Val	rs1302880344	missense variant	-	NC_000008.11:g.18222208C>T	TOPMed
NAT1	P18440	p.Phe56Leu	rs748760955	missense variant	-	NC_000008.11:g.18222215T>G	ExAC,gnomAD
NAT1	P18440	p.Gln58His	rs770576147	missense variant	-	NC_000008.11:g.18222221A>T	ExAC,gnomAD
NAT1	P18440	p.Val59Leu	rs373598025	missense variant	-	NC_000008.11:g.18222222G>C	ESP,ExAC
NAT1	P18440	p.Val59Ala	rs745507855	missense variant	-	NC_000008.11:g.18222223T>C	ExAC,gnomAD
NAT1	P18440	p.Val60Leu	rs1368442859	missense variant	-	NC_000008.11:g.18222225G>C	TOPMed,gnomAD
NAT1	P18440	p.Arg62Thr	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>C	TOPMed,gnomAD
NAT1	P18440	p.Arg62Ile	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>T	TOPMed,gnomAD
NAT1	P18440	p.Asn63Ser	rs1453728176	missense variant	-	NC_000008.11:g.18222235A>G	TOPMed
NAT1	P18440	p.Arg64Trp	rs56379106	missense variant	-	NC_000008.11:g.18222237C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg64Gln	rs138061602	missense variant	-	NC_000008.11:g.18222238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg64Trp	RCV000239134	missense variant	-	NC_000008.11:g.18222237C>T	ClinVar
NAT1	P18440	p.Gly65Asp	rs1435979876	missense variant	-	NC_000008.11:g.18222241G>A	TOPMed
NAT1	P18440	p.Gly66Glu	rs1392888904	missense variant	-	NC_000008.11:g.18222244G>A	TOPMed
NAT1	P18440	p.Gly66Arg	rs760682628	missense variant	-	NC_000008.11:g.18222243G>A	ExAC,gnomAD
NAT1	P18440	p.Trp67Ter	rs1172703660	stop gained	-	NC_000008.11:g.18222247G>A	TOPMed
NAT1	P18440	p.Trp67Ter	rs200617057	stop gained	-	NC_000008.11:g.18222248G>A	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp67Arg	rs1374012381	missense variant	-	NC_000008.11:g.18222246T>C	gnomAD
NAT1	P18440	p.Trp67Cys	rs200617057	missense variant	-	NC_000008.11:g.18222248G>C	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu75Val	rs1242293172	missense variant	-	NC_000008.11:g.18222270C>G	gnomAD
NAT1	P18440	p.Tyr76His	rs1274840625	missense variant	-	NC_000008.11:g.18222273T>C	TOPMed,gnomAD
NAT1	P18440	p.Tyr76Phe	rs1184525084	missense variant	-	NC_000008.11:g.18222274A>T	TOPMed
NAT1	P18440	p.Tyr76Ter	rs758659369	stop gained	-	NC_000008.11:g.18222275C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Ter	rs766818967	stop gained	-	NC_000008.11:g.18222278G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Ter	rs899099033	stop gained	-	NC_000008.11:g.18222277G>A	TOPMed
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr81Ala	rs1196494896	missense variant	-	NC_000008.11:g.18222288A>G	gnomAD
NAT1	P18440	p.Ile82Thr	rs781488745	missense variant	-	NC_000008.11:g.18222292T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile82Asn	rs781488745	missense variant	-	NC_000008.11:g.18222292T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile82Val	rs878972721	missense variant	-	NC_000008.11:g.18222291A>G	gnomAD
NAT1	P18440	p.Thr86Ser	rs1472009345	missense variant	-	NC_000008.11:g.18222304C>G	TOPMed,gnomAD
NAT1	P18440	p.Thr86Ala	rs1293918771	missense variant	-	NC_000008.11:g.18222303A>G	TOPMed
NAT1	P18440	p.Thr87Met	rs377662129	missense variant	-	NC_000008.11:g.18222307C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu89Ter	rs745561037	stop gained	-	NC_000008.11:g.18222313T>A	ExAC,gnomAD
NAT1	P18440	p.Gly90Glu	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>A	TOPMed
NAT1	P18440	p.Gly90Ala	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>C	TOPMed
NAT1	P18440	p.Gly91Trp	rs906486901	missense variant	-	NC_000008.11:g.18222318G>T	TOPMed
NAT1	P18440	p.Tyr92Cys	rs771574299	missense variant	-	NC_000008.11:g.18222322A>G	ExAC
NAT1	P18440	p.Val93Phe	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>T	TOPMed,gnomAD
NAT1	P18440	p.Val93Leu	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>C	TOPMed,gnomAD
NAT1	P18440	p.Thr96Ile	rs746715596	missense variant	-	NC_000008.11:g.18222334C>T	ExAC,gnomAD
NAT1	P18440	p.Pro97Ala	rs142535782	missense variant	-	NC_000008.11:g.18222336C>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Gly	rs776486965	missense variant	-	NC_000008.11:g.18222340C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Val	rs776486965	missense variant	-	NC_000008.11:g.18222340C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys99Asn	rs1355837022	missense variant	-	NC_000008.11:g.18222344A>C	gnomAD
NAT1	P18440	p.Lys99Arg	rs1294831136	missense variant	-	NC_000008.11:g.18222343A>G	gnomAD
NAT1	P18440	p.Lys100Asn	rs956774819	missense variant	-	NC_000008.11:g.18222347A>C	TOPMed
NAT1	P18440	p.Thr103Ala	rs1256959731	missense variant	-	NC_000008.11:g.18222354A>G	TOPMed
NAT1	P18440	p.Gly104Val	rs765445123	missense variant	-	NC_000008.11:g.18222358G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly104Ser	rs761834764	missense variant	-	NC_000008.11:g.18222357G>A	ExAC,gnomAD
NAT1	P18440	p.Gly104Asp	rs765445123	missense variant	-	NC_000008.11:g.18222358G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Val	rs1309516215	missense variant	-	NC_000008.11:g.18222360A>G	gnomAD
NAT1	P18440	p.Met105Arg	rs1228183829	missense variant	-	NC_000008.11:g.18222361T>G	gnomAD
NAT1	P18440	p.Ile106Phe	rs1227159696	missense variant	-	NC_000008.11:g.18222363A>T	TOPMed
NAT1	P18440	p.Ile106Met	rs751961199	missense variant	-	NC_000008.11:g.18222365T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile106Ser	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>G	TOPMed,gnomAD
NAT1	P18440	p.Ile106Asn	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>A	TOPMed,gnomAD
NAT1	P18440	p.Leu108Ile	rs767910902	missense variant	-	NC_000008.11:g.18222369C>A	ExAC,gnomAD
NAT1	P18440	p.Leu108Arg	rs1192004687	missense variant	-	NC_000008.11:g.18222370T>G	gnomAD
NAT1	P18440	p.Gln111His	rs756584972	missense variant	-	NC_000008.11:g.18222380G>C	ExAC,gnomAD
NAT1	P18440	p.Gln111Leu	rs753271283	missense variant	-	NC_000008.11:g.18222379A>T	ExAC,gnomAD
NAT1	P18440	p.Val112Met	rs1170465216	missense variant	-	NC_000008.11:g.18222381G>A	gnomAD
NAT1	P18440	p.Thr113Ala	rs1232055758	missense variant	-	NC_000008.11:g.18222384A>G	TOPMed
NAT1	P18440	p.Thr113Ser	rs778415469	missense variant	-	NC_000008.11:g.18222385C>G	ExAC,gnomAD
NAT1	P18440	p.Ile114Thr	rs145975713	missense variant	-	NC_000008.11:g.18222388T>C	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Asn	rs145975713	missense variant	-	NC_000008.11:g.18222388T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Val	rs745340680	missense variant	-	NC_000008.11:g.18222387A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp115Glu	rs768399724	missense variant	-	NC_000008.11:g.18222392T>A	ExAC,gnomAD
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	-
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	UniProt,dbSNP
NAT1	P18440	p.Arg117Thr	VAR_009510	missense variant	-	NC_000008.11:g.18222397G>C	UniProt
NAT1	P18440	p.Asn118Lys	rs781100714	missense variant	-	NC_000008.11:g.18222401C>A	ExAC,gnomAD
NAT1	P18440	p.Tyr119His	rs748142921	missense variant	-	NC_000008.11:g.18222402T>C	ExAC,gnomAD
NAT1	P18440	p.Ile120Phe	rs769808211	missense variant	-	NC_000008.11:g.18222405A>T	ExAC,gnomAD
NAT1	P18440	p.Ile120Asn	rs777637715	missense variant	-	NC_000008.11:g.18222406T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Ser	rs777637715	missense variant	-	NC_000008.11:g.18222406T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Thr	rs777637715	missense variant	-	NC_000008.11:g.18222406T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala123Val	rs771202638	missense variant	-	NC_000008.11:g.18222415C>T	ExAC,gnomAD
NAT1	P18440	p.Phe125Ser	rs1166797430	missense variant	-	NC_000008.11:g.18222421T>C	TOPMed
NAT1	P18440	p.Arg127Cys	rs759800046	missense variant	-	NC_000008.11:g.18222426C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127His	rs200857632	missense variant	-	NC_000008.11:g.18222427G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127Leu	rs200857632	missense variant	-	NC_000008.11:g.18222427G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser128Leu	rs761199497	missense variant	-	NC_000008.11:g.18222430C>T	ExAC,gnomAD
NAT1	P18440	p.Tyr129Phe	rs548004925	missense variant	-	NC_000008.11:g.18222433A>T	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr129Cys	rs548004925	missense variant	-	NC_000008.11:g.18222433A>G	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln130His	rs376036465	missense variant	-	NC_000008.11:g.18222437G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Ter	rs1419034037	stop gained	-	NC_000008.11:g.18222442G>A	gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Arg	rs751206939	missense variant	-	NC_000008.11:g.18222441T>C	ExAC,gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Ter	rs754633858	stop gained	-	NC_000008.11:g.18222443G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln133Ter	rs1346740720	stop gained	-	NC_000008.11:g.18222444C>T	gnomAD
NAT1	P18440	p.Pro134Ser	rs1431281350	missense variant	-	NC_000008.11:g.18222447C>T	gnomAD
NAT1	P18440	p.Pro134His	rs1037552428	missense variant	-	NC_000008.11:g.18222448C>A	TOPMed
NAT1	P18440	p.Glu136Asp	rs769863219	missense variant	-	NC_000008.11:g.18222455G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu136Lys	rs1443144991	missense variant	-	NC_000008.11:g.18222453G>A	gnomAD
NAT1	P18440	p.Ile138Thr	rs749235522	missense variant	-	NC_000008.11:g.18222460T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser139Tyr	rs1287040056	missense variant	-	NC_000008.11:g.18222463C>A	gnomAD
NAT1	P18440	p.Asp142Val	rs1239138621	missense variant	-	NC_000008.11:g.18222472A>T	TOPMed
NAT1	P18440	p.Asp142Tyr	rs770983742	missense variant	-	NC_000008.11:g.18222471G>T	ExAC,gnomAD
NAT1	P18440	p.Pro144Ser	rs774460271	missense variant	-	NC_000008.11:g.18222477C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Pro147Ser	rs529845573	missense variant	-	NC_000008.11:g.18222486C>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Cys148Arg	rs1390508874	missense variant	-	NC_000008.11:g.18222489T>C	TOPMed
NAT1	P18440	p.Val149Leu	rs4987076	missense variant	-	NC_000008.11:g.18222492G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val149Ile	RCV000455973	missense variant	-	NC_000008.11:g.18222492G>A	ClinVar
NAT1	P18440	p.Val149Ile	rs4987076	missense variant	-	NC_000008.11:g.18222492G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151Pro	rs370302501	missense variant	-	NC_000008.11:g.18222499G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151Cys	rs760970670	missense variant	-	NC_000008.11:g.18222498C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151His	rs370302501	missense variant	-	NC_000008.11:g.18222499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu152Trp	rs762346362	missense variant	-	NC_000008.11:g.18222502T>G	ExAC,gnomAD
NAT1	P18440	p.Thr153Ala	rs1392495324	missense variant	-	NC_000008.11:g.18222504A>G	gnomAD
NAT1	P18440	p.Thr153Met	rs374226986	missense variant	-	NC_000008.11:g.18222505C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu154Ter	rs566014052	stop gained	-	NC_000008.11:g.18222507G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Glu154Gln	rs566014052	missense variant	-	NC_000008.11:g.18222507G>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Gly157Ter	rs752556604	stop gained	-	NC_000008.11:g.18222516G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe158Leu	rs1291836193	missense variant	-	NC_000008.11:g.18222521C>G	gnomAD
NAT1	P18440	p.Phe158Leu	rs756034918	missense variant	-	NC_000008.11:g.18222519T>C	ExAC,gnomAD
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp159Arg	rs1255063436	missense variant	-	NC_000008.11:g.18222522T>C	TOPMed
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu161Pro	rs554793519	missense variant	-	NC_000008.11:g.18222529T>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Arg165Lys	rs778884010	missense variant	-	NC_000008.11:g.18222541G>A	ExAC,gnomAD
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	missense variant	-	NC_000008.11:g.18222544_18222546inv	-
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt,dbSNP
NAT1	P18440	p.ArgGlu166ThrGln	VAR_009511	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt
NAT1	P18440	p.Gln168His	rs139028182	missense variant	-	NC_000008.11:g.18222551G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr169Cys	rs775745792	missense variant	-	NC_000008.11:g.18222553A>G	ExAC,gnomAD
NAT1	P18440	p.Glu173Lys	rs1415403353	missense variant	-	NC_000008.11:g.18222564G>A	TOPMed,gnomAD
NAT1	P18440	p.Glu174Ter	rs371668421	stop gained	-	NC_000008.11:g.18222567G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu174Lys	rs371668421	missense variant	-	NC_000008.11:g.18222567G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe175Leu	rs762246777	missense variant	-	NC_000008.11:g.18222570T>C	ExAC,gnomAD
NAT1	P18440	p.Leu176Phe	rs765738013	missense variant	-	NC_000008.11:g.18222573C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu176Ile	rs765738013	missense variant	-	NC_000008.11:g.18222573C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His177Leu	rs773741828	missense variant	-	NC_000008.11:g.18222577A>T	ExAC,gnomAD
NAT1	P18440	p.Asp179Glu	rs1022148954	missense variant	-	NC_000008.11:g.18222584T>A	TOPMed
NAT1	P18440	p.Asp179Val	rs987151115	missense variant	-	NC_000008.11:g.18222583A>T	TOPMed
NAT1	P18440	p.Asp179Asn	rs1009215309	missense variant	-	NC_000008.11:g.18222582G>A	TOPMed
NAT1	P18440	p.Ser184Gly	rs1357745556	missense variant	-	NC_000008.11:g.18222597A>G	gnomAD
NAT1	P18440	p.Arg187Gln	rs4986782	missense variant	-	NC_000008.11:g.18222607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg187Ter	rs5030839	stop gained	-	NC_000008.11:g.18222606C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr190Asn	rs1017403408	missense variant	-	NC_000008.11:g.18222615T>A	gnomAD
NAT1	P18440	p.Ser191Phe	rs141552883	missense variant	-	NC_000008.11:g.18222619C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe192Val	rs1438261068	missense variant	-	NC_000008.11:g.18222621T>G	gnomAD
NAT1	P18440	p.Lys195Arg	rs1188424795	missense variant	-	NC_000008.11:g.18222631A>G	gnomAD
NAT1	P18440	p.Lys195Ter	rs1486518987	stop gained	-	NC_000008.11:g.18222630A>T	TOPMed,gnomAD
NAT1	P18440	p.Pro196Ser	rs757144152	missense variant	-	NC_000008.11:g.18222633C>T	ExAC,gnomAD
NAT1	P18440	p.Arg197Ter	rs778732687	stop gained	-	NC_000008.11:g.18222636C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg197Gln	rs1044890902	missense variant	-	NC_000008.11:g.18222637G>A	TOPMed,gnomAD
NAT1	P18440	p.Arg197Gly	rs778732687	missense variant	-	NC_000008.11:g.18222636C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr198Pro	rs1168975907	missense variant	-	NC_000008.11:g.18222639A>C	TOPMed,gnomAD
NAT1	P18440	p.Ile199Val	rs780073557	missense variant	-	NC_000008.11:g.18222642A>G	ExAC,gnomAD
NAT1	P18440	p.Ile199Thr	rs144790969	missense variant	-	NC_000008.11:g.18222643T>C	ESP,ExAC,gnomAD
NAT1	P18440	p.Asp201Gly	rs768813958	missense variant	-	NC_000008.11:g.18222649A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp201Val	rs768813958	missense variant	-	NC_000008.11:g.18222649A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu203Asp	rs776888648	missense variant	-	NC_000008.11:g.18222656G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu203Gln	rs1428225257	missense variant	-	NC_000008.11:g.18222654G>C	gnomAD
NAT1	P18440	p.Ser204Thr	rs1339465727	missense variant	-	NC_000008.11:g.18222657T>A	gnomAD
NAT1	P18440	p.Met205Thr	rs1231690763	missense variant	-	NC_000008.11:g.18222661T>C	TOPMed
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	UniProt,dbSNP
NAT1	P18440	p.Met205Val	VAR_009070	missense variant	-	NC_000008.11:g.18222660A>G	UniProt
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asn206Thr	rs1346668677	missense variant	-	NC_000008.11:g.18222664A>C	TOPMed
NAT1	P18440	p.Thr207Ile	rs4987195	missense variant	-	NC_000008.11:g.18222667C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr208His	rs773830510	missense variant	-	NC_000008.11:g.18222669T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu209Gln	rs763554945	missense variant	-	NC_000008.11:g.18222673T>A	ExAC,gnomAD
NAT1	P18440	p.Gln210Ter	rs767176233	stop gained	-	NC_000008.11:g.18222675C>T	ExAC,gnomAD
NAT1	P18440	p.Ser214Ala	rs4986783	missense variant	-	NC_000008.11:g.18222687T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe217Leu	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>C	gnomAD
NAT1	P18440	p.Phe217Val	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>G	gnomAD
NAT1	P18440	p.Thr218Asn	rs760427743	missense variant	-	NC_000008.11:g.18222700C>A	ExAC,gnomAD
NAT1	P18440	p.Lys220Ile	rs941561436	missense variant	-	NC_000008.11:g.18222706A>T	TOPMed
NAT1	P18440	p.Ser221Leu	rs1434378503	missense variant	-	NC_000008.11:g.18222709C>T	TOPMed
NAT1	P18440	p.Cys223Tyr	rs753587469	missense variant	-	NC_000008.11:g.18222715G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Cys223Ser	rs753587469	missense variant	-	NC_000008.11:g.18222715G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser224Tyr	rs905333539	missense variant	-	NC_000008.11:g.18222718C>A	gnomAD
NAT1	P18440	p.Ser224Phe	rs905333539	missense variant	-	NC_000008.11:g.18222718C>T	gnomAD
NAT1	P18440	p.Thr227Ser	rs1170029643	missense variant	-	NC_000008.11:g.18222727C>G	TOPMed
NAT1	P18440	p.Gly230Val	rs762091516	missense variant	-	NC_000008.11:g.18222736G>T	ExAC,gnomAD
NAT1	P18440	p.Gly230Arg	rs764935585	missense variant	-	NC_000008.11:g.18222735G>A	ExAC,gnomAD
NAT1	P18440	p.Gly230Glu	rs762091516	missense variant	-	NC_000008.11:g.18222736G>A	ExAC,gnomAD
NAT1	P18440	p.Val231Phe	rs201916736	missense variant	-	NC_000008.11:g.18222738G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.His232Gln	rs1437244884	missense variant	-	NC_000008.11:g.18222743C>G	gnomAD
NAT1	P18440	p.Cys233Gly	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>G	gnomAD
NAT1	P18440	p.Cys233Arg	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>C	gnomAD
NAT1	P18440	p.Thr240Ile	rs371915822	missense variant	-	NC_000008.11:g.18222766C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Tyr	rs1285170236	missense variant	-	NC_000008.11:g.18222768C>T	gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Pro	rs1468222480	missense variant	-	NC_000008.11:g.18222769A>C	gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg242Lys	rs1346325688	missense variant	-	NC_000008.11:g.18222772G>A	gnomAD
NAT1	P18440	p.Arg242Gly	rs748308092	missense variant	-	NC_000008.11:g.18222771A>G	ExAC,gnomAD
NAT1	P18440	p.Tyr246Cys	rs201129487	missense variant	-	NC_000008.11:g.18222784A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Lys247Met	rs771519872	missense variant	-	NC_000008.11:g.18222787A>T	ExAC,TOPMed
NAT1	P18440	p.Asn249Ser	rs768034302	missense variant	-	NC_000008.11:g.18222793A>G	ExAC,gnomAD
NAT1	P18440	p.Asn249Asp	rs370049063	missense variant	-	NC_000008.11:g.18222792A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr250Ile	rs776407561	missense variant	-	NC_000008.11:g.18222796C>T	ExAC,gnomAD
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	UniProt,dbSNP
NAT1	P18440	p.Asp251Val	VAR_009072	missense variant	-	NC_000008.11:g.18222799A>T	UniProt
NAT1	P18440	p.Leu252Ile	rs1357252117	missense variant	-	NC_000008.11:g.18222801C>A	TOPMed
NAT1	P18440	p.Glu254Gly	rs1193669448	missense variant	-	NC_000008.11:g.18222808A>G	TOPMed,gnomAD
NAT1	P18440	p.Glu254Asp	rs750169788	missense variant	-	NC_000008.11:g.18222809G>C	ExAC,gnomAD
NAT1	P18440	p.Leu258Pro	rs1333940244	missense variant	-	NC_000008.11:g.18222820T>C	gnomAD
NAT1	P18440	p.Leu258Val	rs762908192	missense variant	-	NC_000008.11:g.18222819C>G	ExAC
NAT1	P18440	p.Ser259Arg	rs4986991	missense variant	-	NC_000008.11:g.18222824T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu260Ala	rs759272916	missense variant	-	NC_000008.11:g.18222826A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu261Gly	rs1212053563	missense variant	-	NC_000008.11:g.18222829A>G	gnomAD
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	UniProt,dbSNP
NAT1	P18440	p.Glu261Lys	VAR_009073	missense variant	-	NC_000008.11:g.18222828G>A	UniProt
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu262Gln	rs1007452700	missense variant	-	NC_000008.11:g.18222831G>C	TOPMed,gnomAD
NAT1	P18440	p.Ile263Thr	rs753003232	missense variant	-	NC_000008.11:g.18222835T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	UniProt,dbSNP
NAT1	P18440	p.Ile263Val	VAR_009074	missense variant	-	NC_000008.11:g.18222834A>G	UniProt
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	TOPMed
NAT1	P18440	p.Glu264Gln	rs1017952816	missense variant	-	NC_000008.11:g.18222837G>C	TOPMed,gnomAD
NAT1	P18440	p.Val266Leu	rs767117934	missense variant	-	NC_000008.11:g.18222843G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val266Met	rs767117934	missense variant	-	NC_000008.11:g.18222843G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys268Glu	rs778308629	missense variant	-	NC_000008.11:g.18222849A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile270Val	rs1162315885	missense variant	-	NC_000008.11:g.18222855A>G	TOPMed,gnomAD
NAT1	P18440	p.Ile270Met	rs771571411	missense variant	-	NC_000008.11:g.18222857A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe271Leu	rs779619721	missense variant	-	NC_000008.11:g.18222858T>C	ExAC
NAT1	P18440	p.Ile273Thr	rs1029808953	missense variant	-	NC_000008.11:g.18222865T>C	TOPMed
NAT1	P18440	p.Ser274Cys	rs768248406	missense variant	-	NC_000008.11:g.18222868C>G	ExAC,gnomAD
NAT1	P18440	p.Leu275Phe	rs775977591	missense variant	-	NC_000008.11:g.18222872G>T	ExAC,gnomAD
NAT1	P18440	p.Lys278Asn	rs761549357	missense variant	-	NC_000008.11:g.18222881G>T	ExAC,gnomAD
NAT1	P18440	p.Val280Met	rs1329540913	missense variant	-	NC_000008.11:g.18222885G>A	gnomAD
NAT1	P18440	p.Pro281Thr	rs1231281905	missense variant	-	NC_000008.11:g.18222888C>A	gnomAD
NAT1	P18440	p.His283Arg	rs1014599491	missense variant	-	NC_000008.11:g.18222895A>G	TOPMed,gnomAD
NAT1	P18440	p.His283Asn	rs1004431924	missense variant	-	NC_000008.11:g.18222894C>A	TOPMed
NAT1	P18440	p.Gly284Arg	rs762676638	missense variant	-	NC_000008.11:g.18222897G>C	ExAC,gnomAD
NAT1	P18440	p.Gly284Ser	rs762676638	missense variant	-	NC_000008.11:g.18222897G>A	ExAC,gnomAD
NAT1	P18440	p.Gly284Asp	rs1389255907	missense variant	-	NC_000008.11:g.18222898G>A	gnomAD
NAT1	P18440	p.Arg286Gly	rs751565644	missense variant	-	NC_000008.11:g.18222903A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg286Ter	rs751565644	stop gained	-	NC_000008.11:g.18222903A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe287Ser	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>C	gnomAD
NAT1	P18440	p.Phe287Tyr	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>A	gnomAD
NAT1	P18440	p.Phe287Val	rs759361275	missense variant	-	NC_000008.11:g.18222906T>G	ExAC,gnomAD
NAT1	P18440	p.Ile290Val	rs529715867	missense variant	-	NC_000008.11:g.18222915A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Ter291Gln	rs1401778047	stop lost	-	NC_000008.11:g.18222918T>C	TOPMed
NAT1	P18440	p.Asp2Gly	rs1182777627	missense variant	-	NC_000008.11:g.18222052A>G	gnomAD
NAT1	P18440	p.Ile3Leu	rs868623536	missense variant	-	NC_000008.11:g.18222054A>C	gnomAD
NAT1	P18440	p.Ile3Val	rs868623536	missense variant	-	NC_000008.11:g.18222054A>G	gnomAD
NAT1	P18440	p.Ala5Glu	rs1372783672	missense variant	-	NC_000008.11:g.18222061C>A	TOPMed
NAT1	P18440	p.Arg9Ile	rs772568722	missense variant	-	NC_000008.11:g.18222073G>T	ExAC,gnomAD
NAT1	P18440	p.Ile10Thr	rs762718093	missense variant	-	NC_000008.11:g.18222076T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile10Asn	rs762718093	missense variant	-	NC_000008.11:g.18222076T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg16Ser	rs770525399	missense variant	-	NC_000008.11:g.18222095G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp20Val	rs1456672837	missense variant	-	NC_000008.11:g.18222106A>T	gnomAD
NAT1	P18440	p.Asp20Tyr	rs759261556	missense variant	-	NC_000008.11:g.18222105G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu21Val	rs767455795	missense variant	-	NC_000008.11:g.18222108T>G	ExAC,gnomAD
NAT1	P18440	p.Glu22Lys	rs1318508898	missense variant	-	NC_000008.11:g.18222111G>A	gnomAD
NAT1	P18440	p.Thr23Ala	rs767121351	missense variant	-	NC_000008.11:g.18222114A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu28Ile	rs764281519	missense variant	-	NC_000008.11:g.18222129C>A	ExAC,gnomAD
NAT1	P18440	p.His30Leu	rs1455332072	missense variant	-	NC_000008.11:g.18222136A>T	TOPMed
NAT1	P18440	p.His30Tyr	rs867938850	missense variant	-	NC_000008.11:g.18222135C>T	gnomAD
NAT1	P18440	p.His30Asn	rs867938850	missense variant	-	NC_000008.11:g.18222135C>A	gnomAD
NAT1	P18440	p.Gln31Arg	rs369130089	missense variant	-	NC_000008.11:g.18222139A>G	ESP,ExAC,gnomAD
NAT1	P18440	p.Ile32Leu	rs757584542	missense variant	-	NC_000008.11:g.18222141A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Val	rs757584542	missense variant	-	NC_000008.11:g.18222141A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Phe	rs757584542	missense variant	-	NC_000008.11:g.18222141A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Gln	rs111848753	missense variant	-	NC_000008.11:g.18222145G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Ter	rs56318881	stop gained	-	NC_000008.11:g.18222144C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala34Ser	rs758889084	missense variant	-	NC_000008.11:g.18222147G>T	ExAC,gnomAD
NAT1	P18440	p.Pro36Ala	rs1231619198	missense variant	-	NC_000008.11:g.18222153C>G	gnomAD
NAT1	P18440	p.Asn41Asp	rs780275360	missense variant	-	NC_000008.11:g.18222168A>G	ExAC,gnomAD
NAT1	P18440	p.Asn41His	rs780275360	missense variant	-	NC_000008.11:g.18222168A>C	ExAC,gnomAD
NAT1	P18440	p.Ile42Thr	rs1355361339	missense variant	-	NC_000008.11:g.18222172T>C	gnomAD
NAT1	P18440	p.His43Asn	rs747595397	missense variant	-	NC_000008.11:g.18222174C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His43Tyr	rs747595397	missense variant	-	NC_000008.11:g.18222174C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly45Val	rs1236531495	missense variant	-	NC_000008.11:g.18222181G>T	TOPMed
NAT1	P18440	p.Gly45Trp	rs181298696	missense variant	-	NC_000008.11:g.18222180G>T	1000Genomes,TOPMed
NAT1	P18440	p.Gly45Arg	rs181298696	missense variant	-	NC_000008.11:g.18222180G>A	1000Genomes,TOPMed
NAT1	P18440	p.Met48Ile	rs769023535	missense variant	-	NC_000008.11:g.18222191G>A	ExAC,gnomAD
NAT1	P18440	p.Leu52Ile	rs777369440	missense variant	-	NC_000008.11:g.18222201T>A	ExAC,gnomAD
NAT1	P18440	p.Ala54Val	rs1302880344	missense variant	-	NC_000008.11:g.18222208C>T	TOPMed
NAT1	P18440	p.Phe56Leu	rs748760955	missense variant	-	NC_000008.11:g.18222215T>G	ExAC,gnomAD
NAT1	P18440	p.Gln58His	rs770576147	missense variant	-	NC_000008.11:g.18222221A>T	ExAC,gnomAD
NAT1	P18440	p.Val59Leu	rs373598025	missense variant	-	NC_000008.11:g.18222222G>C	ESP,ExAC
NAT1	P18440	p.Val59Ala	rs745507855	missense variant	-	NC_000008.11:g.18222223T>C	ExAC,gnomAD
NAT1	P18440	p.Val60Leu	rs1368442859	missense variant	-	NC_000008.11:g.18222225G>C	TOPMed,gnomAD
NAT1	P18440	p.Arg62Ile	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>T	TOPMed,gnomAD
NAT1	P18440	p.Arg62Thr	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>C	TOPMed,gnomAD
NAT1	P18440	p.Asn63Ser	rs1453728176	missense variant	-	NC_000008.11:g.18222235A>G	TOPMed
NAT1	P18440	p.Arg64Trp	rs56379106	missense variant	-	NC_000008.11:g.18222237C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg64Gln	rs138061602	missense variant	-	NC_000008.11:g.18222238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg64Trp	RCV000239134	missense variant	-	NC_000008.11:g.18222237C>T	ClinVar
NAT1	P18440	p.Gly65Asp	rs1435979876	missense variant	-	NC_000008.11:g.18222241G>A	TOPMed
NAT1	P18440	p.Gly66Glu	rs1392888904	missense variant	-	NC_000008.11:g.18222244G>A	TOPMed
NAT1	P18440	p.Gly66Arg	rs760682628	missense variant	-	NC_000008.11:g.18222243G>A	ExAC,gnomAD
NAT1	P18440	p.Trp67Ter	rs1172703660	stop gained	-	NC_000008.11:g.18222247G>A	TOPMed
NAT1	P18440	p.Trp67Ter	rs200617057	stop gained	-	NC_000008.11:g.18222248G>A	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp67Cys	rs200617057	missense variant	-	NC_000008.11:g.18222248G>C	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp67Arg	rs1374012381	missense variant	-	NC_000008.11:g.18222246T>C	gnomAD
NAT1	P18440	p.Leu75Val	rs1242293172	missense variant	-	NC_000008.11:g.18222270C>G	gnomAD
NAT1	P18440	p.Tyr76Ter	rs758659369	stop gained	-	NC_000008.11:g.18222275C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr76His	rs1274840625	missense variant	-	NC_000008.11:g.18222273T>C	TOPMed,gnomAD
NAT1	P18440	p.Tyr76Phe	rs1184525084	missense variant	-	NC_000008.11:g.18222274A>T	TOPMed
NAT1	P18440	p.Trp77Ter	rs899099033	stop gained	-	NC_000008.11:g.18222277G>A	TOPMed
NAT1	P18440	p.Trp77Ter	rs766818967	stop gained	-	NC_000008.11:g.18222278G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr81Ala	rs1196494896	missense variant	-	NC_000008.11:g.18222288A>G	gnomAD
NAT1	P18440	p.Ile82Thr	rs781488745	missense variant	-	NC_000008.11:g.18222292T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile82Asn	rs781488745	missense variant	-	NC_000008.11:g.18222292T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile82Val	rs878972721	missense variant	-	NC_000008.11:g.18222291A>G	gnomAD
NAT1	P18440	p.Thr86Ser	rs1472009345	missense variant	-	NC_000008.11:g.18222304C>G	TOPMed,gnomAD
NAT1	P18440	p.Thr86Ala	rs1293918771	missense variant	-	NC_000008.11:g.18222303A>G	TOPMed
NAT1	P18440	p.Thr87Met	rs377662129	missense variant	-	NC_000008.11:g.18222307C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu89Ter	rs745561037	stop gained	-	NC_000008.11:g.18222313T>A	ExAC,gnomAD
NAT1	P18440	p.Gly90Glu	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>A	TOPMed
NAT1	P18440	p.Gly90Ala	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>C	TOPMed
NAT1	P18440	p.Gly91Trp	rs906486901	missense variant	-	NC_000008.11:g.18222318G>T	TOPMed
NAT1	P18440	p.Tyr92Cys	rs771574299	missense variant	-	NC_000008.11:g.18222322A>G	ExAC
NAT1	P18440	p.Val93Phe	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>T	TOPMed,gnomAD
NAT1	P18440	p.Val93Leu	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>C	TOPMed,gnomAD
NAT1	P18440	p.Thr96Ile	rs746715596	missense variant	-	NC_000008.11:g.18222334C>T	ExAC,gnomAD
NAT1	P18440	p.Pro97Ala	rs142535782	missense variant	-	NC_000008.11:g.18222336C>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Gly	rs776486965	missense variant	-	NC_000008.11:g.18222340C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Val	rs776486965	missense variant	-	NC_000008.11:g.18222340C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys99Asn	rs1355837022	missense variant	-	NC_000008.11:g.18222344A>C	gnomAD
NAT1	P18440	p.Lys99Arg	rs1294831136	missense variant	-	NC_000008.11:g.18222343A>G	gnomAD
NAT1	P18440	p.Lys100Asn	rs956774819	missense variant	-	NC_000008.11:g.18222347A>C	TOPMed
NAT1	P18440	p.Thr103Ala	rs1256959731	missense variant	-	NC_000008.11:g.18222354A>G	TOPMed
NAT1	P18440	p.Gly104Ser	rs761834764	missense variant	-	NC_000008.11:g.18222357G>A	ExAC,gnomAD
NAT1	P18440	p.Gly104Val	rs765445123	missense variant	-	NC_000008.11:g.18222358G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly104Asp	rs765445123	missense variant	-	NC_000008.11:g.18222358G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Val	rs1309516215	missense variant	-	NC_000008.11:g.18222360A>G	gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Arg	rs1228183829	missense variant	-	NC_000008.11:g.18222361T>G	gnomAD
NAT1	P18440	p.Ile106Ser	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>G	TOPMed,gnomAD
NAT1	P18440	p.Ile106Phe	rs1227159696	missense variant	-	NC_000008.11:g.18222363A>T	TOPMed
NAT1	P18440	p.Ile106Met	rs751961199	missense variant	-	NC_000008.11:g.18222365T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile106Asn	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>A	TOPMed,gnomAD
NAT1	P18440	p.Leu108Ile	rs767910902	missense variant	-	NC_000008.11:g.18222369C>A	ExAC,gnomAD
NAT1	P18440	p.Leu108Arg	rs1192004687	missense variant	-	NC_000008.11:g.18222370T>G	gnomAD
NAT1	P18440	p.Gln111Leu	rs753271283	missense variant	-	NC_000008.11:g.18222379A>T	ExAC,gnomAD
NAT1	P18440	p.Gln111His	rs756584972	missense variant	-	NC_000008.11:g.18222380G>C	ExAC,gnomAD
NAT1	P18440	p.Val112Met	rs1170465216	missense variant	-	NC_000008.11:g.18222381G>A	gnomAD
NAT1	P18440	p.Thr113Ala	rs1232055758	missense variant	-	NC_000008.11:g.18222384A>G	TOPMed
NAT1	P18440	p.Thr113Ser	rs778415469	missense variant	-	NC_000008.11:g.18222385C>G	ExAC,gnomAD
NAT1	P18440	p.Ile114Val	rs745340680	missense variant	-	NC_000008.11:g.18222387A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Asn	rs145975713	missense variant	-	NC_000008.11:g.18222388T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Thr	rs145975713	missense variant	-	NC_000008.11:g.18222388T>C	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp115Glu	rs768399724	missense variant	-	NC_000008.11:g.18222392T>A	ExAC,gnomAD
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	UniProt,dbSNP
NAT1	P18440	p.Arg117Thr	VAR_009510	missense variant	-	NC_000008.11:g.18222397G>C	UniProt
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	-
NAT1	P18440	p.Asn118Lys	rs781100714	missense variant	-	NC_000008.11:g.18222401C>A	ExAC,gnomAD
NAT1	P18440	p.Tyr119His	rs748142921	missense variant	-	NC_000008.11:g.18222402T>C	ExAC,gnomAD
NAT1	P18440	p.Ile120Phe	rs769808211	missense variant	-	NC_000008.11:g.18222405A>T	ExAC,gnomAD
NAT1	P18440	p.Ile120Asn	rs777637715	missense variant	-	NC_000008.11:g.18222406T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Thr	rs777637715	missense variant	-	NC_000008.11:g.18222406T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Ser	rs777637715	missense variant	-	NC_000008.11:g.18222406T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala123Val	rs771202638	missense variant	-	NC_000008.11:g.18222415C>T	ExAC,gnomAD
NAT1	P18440	p.Phe125Ser	rs1166797430	missense variant	-	NC_000008.11:g.18222421T>C	TOPMed
NAT1	P18440	p.Arg127Cys	rs759800046	missense variant	-	NC_000008.11:g.18222426C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127Leu	rs200857632	missense variant	-	NC_000008.11:g.18222427G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127His	rs200857632	missense variant	-	NC_000008.11:g.18222427G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser128Leu	rs761199497	missense variant	-	NC_000008.11:g.18222430C>T	ExAC,gnomAD
NAT1	P18440	p.Tyr129Cys	rs548004925	missense variant	-	NC_000008.11:g.18222433A>G	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr129Phe	rs548004925	missense variant	-	NC_000008.11:g.18222433A>T	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln130His	rs376036465	missense variant	-	NC_000008.11:g.18222437G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Ter	rs1419034037	stop gained	-	NC_000008.11:g.18222442G>A	gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Arg	rs751206939	missense variant	-	NC_000008.11:g.18222441T>C	ExAC,gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Ter	rs754633858	stop gained	-	NC_000008.11:g.18222443G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln133Ter	rs1346740720	stop gained	-	NC_000008.11:g.18222444C>T	gnomAD
NAT1	P18440	p.Pro134Ser	rs1431281350	missense variant	-	NC_000008.11:g.18222447C>T	gnomAD
NAT1	P18440	p.Pro134His	rs1037552428	missense variant	-	NC_000008.11:g.18222448C>A	TOPMed
NAT1	P18440	p.Glu136Lys	rs1443144991	missense variant	-	NC_000008.11:g.18222453G>A	gnomAD
NAT1	P18440	p.Glu136Asp	rs769863219	missense variant	-	NC_000008.11:g.18222455G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile138Thr	rs749235522	missense variant	-	NC_000008.11:g.18222460T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser139Tyr	rs1287040056	missense variant	-	NC_000008.11:g.18222463C>A	gnomAD
NAT1	P18440	p.Asp142Val	rs1239138621	missense variant	-	NC_000008.11:g.18222472A>T	TOPMed
NAT1	P18440	p.Asp142Tyr	rs770983742	missense variant	-	NC_000008.11:g.18222471G>T	ExAC,gnomAD
NAT1	P18440	p.Pro144Ser	rs774460271	missense variant	-	NC_000008.11:g.18222477C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Pro147Ser	rs529845573	missense variant	-	NC_000008.11:g.18222486C>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Cys148Arg	rs1390508874	missense variant	-	NC_000008.11:g.18222489T>C	TOPMed
NAT1	P18440	p.Val149Ile	rs4987076	missense variant	-	NC_000008.11:g.18222492G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val149Leu	rs4987076	missense variant	-	NC_000008.11:g.18222492G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val149Ile	RCV000455973	missense variant	-	NC_000008.11:g.18222492G>A	ClinVar
NAT1	P18440	p.Arg151Cys	rs760970670	missense variant	-	NC_000008.11:g.18222498C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151Pro	rs370302501	missense variant	-	NC_000008.11:g.18222499G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151His	rs370302501	missense variant	-	NC_000008.11:g.18222499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu152Trp	rs762346362	missense variant	-	NC_000008.11:g.18222502T>G	ExAC,gnomAD
NAT1	P18440	p.Thr153Met	rs374226986	missense variant	-	NC_000008.11:g.18222505C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr153Ala	rs1392495324	missense variant	-	NC_000008.11:g.18222504A>G	gnomAD
NAT1	P18440	p.Glu154Ter	rs566014052	stop gained	-	NC_000008.11:g.18222507G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Glu154Gln	rs566014052	missense variant	-	NC_000008.11:g.18222507G>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Gly157Ter	rs752556604	stop gained	-	NC_000008.11:g.18222516G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe158Leu	rs1291836193	missense variant	-	NC_000008.11:g.18222521C>G	gnomAD
NAT1	P18440	p.Phe158Leu	rs756034918	missense variant	-	NC_000008.11:g.18222519T>C	ExAC,gnomAD
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp159Arg	rs1255063436	missense variant	-	NC_000008.11:g.18222522T>C	TOPMed
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu161Pro	rs554793519	missense variant	-	NC_000008.11:g.18222529T>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Arg165Lys	rs778884010	missense variant	-	NC_000008.11:g.18222541G>A	ExAC,gnomAD
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	missense variant	-	NC_000008.11:g.18222544_18222546inv	-
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt,dbSNP
NAT1	P18440	p.ArgGlu166ThrGln	VAR_009511	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt
NAT1	P18440	p.Gln168His	rs139028182	missense variant	-	NC_000008.11:g.18222551G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr169Cys	rs775745792	missense variant	-	NC_000008.11:g.18222553A>G	ExAC,gnomAD
NAT1	P18440	p.Glu173Lys	rs1415403353	missense variant	-	NC_000008.11:g.18222564G>A	TOPMed,gnomAD
NAT1	P18440	p.Glu174Lys	rs371668421	missense variant	-	NC_000008.11:g.18222567G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu174Ter	rs371668421	stop gained	-	NC_000008.11:g.18222567G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe175Leu	rs762246777	missense variant	-	NC_000008.11:g.18222570T>C	ExAC,gnomAD
NAT1	P18440	p.Leu176Phe	rs765738013	missense variant	-	NC_000008.11:g.18222573C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu176Ile	rs765738013	missense variant	-	NC_000008.11:g.18222573C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His177Leu	rs773741828	missense variant	-	NC_000008.11:g.18222577A>T	ExAC,gnomAD
NAT1	P18440	p.Asp179Asn	rs1009215309	missense variant	-	NC_000008.11:g.18222582G>A	TOPMed
NAT1	P18440	p.Asp179Glu	rs1022148954	missense variant	-	NC_000008.11:g.18222584T>A	TOPMed
NAT1	P18440	p.Asp179Val	rs987151115	missense variant	-	NC_000008.11:g.18222583A>T	TOPMed
NAT1	P18440	p.Ser184Gly	rs1357745556	missense variant	-	NC_000008.11:g.18222597A>G	gnomAD
NAT1	P18440	p.Arg187Gln	rs4986782	missense variant	-	NC_000008.11:g.18222607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg187Ter	rs5030839	stop gained	-	NC_000008.11:g.18222606C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr190Asn	rs1017403408	missense variant	-	NC_000008.11:g.18222615T>A	gnomAD
NAT1	P18440	p.Ser191Phe	rs141552883	missense variant	-	NC_000008.11:g.18222619C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe192Val	rs1438261068	missense variant	-	NC_000008.11:g.18222621T>G	gnomAD
NAT1	P18440	p.Lys195Arg	rs1188424795	missense variant	-	NC_000008.11:g.18222631A>G	gnomAD
NAT1	P18440	p.Lys195Ter	rs1486518987	stop gained	-	NC_000008.11:g.18222630A>T	TOPMed,gnomAD
NAT1	P18440	p.Pro196Ser	rs757144152	missense variant	-	NC_000008.11:g.18222633C>T	ExAC,gnomAD
NAT1	P18440	p.Arg197Ter	rs778732687	stop gained	-	NC_000008.11:g.18222636C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg197Gln	rs1044890902	missense variant	-	NC_000008.11:g.18222637G>A	TOPMed,gnomAD
NAT1	P18440	p.Arg197Gly	rs778732687	missense variant	-	NC_000008.11:g.18222636C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr198Pro	rs1168975907	missense variant	-	NC_000008.11:g.18222639A>C	TOPMed,gnomAD
NAT1	P18440	p.Ile199Val	rs780073557	missense variant	-	NC_000008.11:g.18222642A>G	ExAC,gnomAD
NAT1	P18440	p.Ile199Thr	rs144790969	missense variant	-	NC_000008.11:g.18222643T>C	ESP,ExAC,gnomAD
NAT1	P18440	p.Asp201Gly	rs768813958	missense variant	-	NC_000008.11:g.18222649A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp201Val	rs768813958	missense variant	-	NC_000008.11:g.18222649A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu203Gln	rs1428225257	missense variant	-	NC_000008.11:g.18222654G>C	gnomAD
NAT1	P18440	p.Glu203Asp	rs776888648	missense variant	-	NC_000008.11:g.18222656G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser204Thr	rs1339465727	missense variant	-	NC_000008.11:g.18222657T>A	gnomAD
NAT1	P18440	p.Met205Thr	rs1231690763	missense variant	-	NC_000008.11:g.18222661T>C	TOPMed
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	UniProt,dbSNP
NAT1	P18440	p.Met205Val	VAR_009070	missense variant	-	NC_000008.11:g.18222660A>G	UniProt
NAT1	P18440	p.Asn206Thr	rs1346668677	missense variant	-	NC_000008.11:g.18222664A>C	TOPMed
NAT1	P18440	p.Thr207Ile	rs4987195	missense variant	-	NC_000008.11:g.18222667C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr208His	rs773830510	missense variant	-	NC_000008.11:g.18222669T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu209Gln	rs763554945	missense variant	-	NC_000008.11:g.18222673T>A	ExAC,gnomAD
NAT1	P18440	p.Gln210Ter	rs767176233	stop gained	-	NC_000008.11:g.18222675C>T	ExAC,gnomAD
NAT1	P18440	p.Ser214Ala	rs4986783	missense variant	-	NC_000008.11:g.18222687T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe217Leu	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>C	gnomAD
NAT1	P18440	p.Phe217Val	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>G	gnomAD
NAT1	P18440	p.Thr218Asn	rs760427743	missense variant	-	NC_000008.11:g.18222700C>A	ExAC,gnomAD
NAT1	P18440	p.Lys220Ile	rs941561436	missense variant	-	NC_000008.11:g.18222706A>T	TOPMed
NAT1	P18440	p.Ser221Leu	rs1434378503	missense variant	-	NC_000008.11:g.18222709C>T	TOPMed
NAT1	P18440	p.Cys223Ser	rs753587469	missense variant	-	NC_000008.11:g.18222715G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Cys223Tyr	rs753587469	missense variant	-	NC_000008.11:g.18222715G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser224Tyr	rs905333539	missense variant	-	NC_000008.11:g.18222718C>A	gnomAD
NAT1	P18440	p.Ser224Phe	rs905333539	missense variant	-	NC_000008.11:g.18222718C>T	gnomAD
NAT1	P18440	p.Thr227Ser	rs1170029643	missense variant	-	NC_000008.11:g.18222727C>G	TOPMed
NAT1	P18440	p.Gly230Glu	rs762091516	missense variant	-	NC_000008.11:g.18222736G>A	ExAC,gnomAD
NAT1	P18440	p.Gly230Val	rs762091516	missense variant	-	NC_000008.11:g.18222736G>T	ExAC,gnomAD
NAT1	P18440	p.Gly230Arg	rs764935585	missense variant	-	NC_000008.11:g.18222735G>A	ExAC,gnomAD
NAT1	P18440	p.Val231Phe	rs201916736	missense variant	-	NC_000008.11:g.18222738G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.His232Gln	rs1437244884	missense variant	-	NC_000008.11:g.18222743C>G	gnomAD
NAT1	P18440	p.Cys233Arg	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>C	gnomAD
NAT1	P18440	p.Cys233Gly	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>G	gnomAD
NAT1	P18440	p.Thr240Ile	rs371915822	missense variant	-	NC_000008.11:g.18222766C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Tyr	rs1285170236	missense variant	-	NC_000008.11:g.18222768C>T	gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Pro	rs1468222480	missense variant	-	NC_000008.11:g.18222769A>C	gnomAD
NAT1	P18440	p.Arg242Gly	rs748308092	missense variant	-	NC_000008.11:g.18222771A>G	ExAC,gnomAD
NAT1	P18440	p.Arg242Lys	rs1346325688	missense variant	-	NC_000008.11:g.18222772G>A	gnomAD
NAT1	P18440	p.Tyr246Cys	rs201129487	missense variant	-	NC_000008.11:g.18222784A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Lys247Met	rs771519872	missense variant	-	NC_000008.11:g.18222787A>T	ExAC,TOPMed
NAT1	P18440	p.Asn249Asp	rs370049063	missense variant	-	NC_000008.11:g.18222792A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asn249Ser	rs768034302	missense variant	-	NC_000008.11:g.18222793A>G	ExAC,gnomAD
NAT1	P18440	p.Thr250Ile	rs776407561	missense variant	-	NC_000008.11:g.18222796C>T	ExAC,gnomAD
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	UniProt,dbSNP
NAT1	P18440	p.Asp251Val	VAR_009072	missense variant	-	NC_000008.11:g.18222799A>T	UniProt
NAT1	P18440	p.Leu252Ile	rs1357252117	missense variant	-	NC_000008.11:g.18222801C>A	TOPMed
NAT1	P18440	p.Glu254Gly	rs1193669448	missense variant	-	NC_000008.11:g.18222808A>G	TOPMed,gnomAD
NAT1	P18440	p.Glu254Asp	rs750169788	missense variant	-	NC_000008.11:g.18222809G>C	ExAC,gnomAD
NAT1	P18440	p.Leu258Val	rs762908192	missense variant	-	NC_000008.11:g.18222819C>G	ExAC
NAT1	P18440	p.Leu258Pro	rs1333940244	missense variant	-	NC_000008.11:g.18222820T>C	gnomAD
NAT1	P18440	p.Ser259Arg	rs4986991	missense variant	-	NC_000008.11:g.18222824T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu260Ala	rs759272916	missense variant	-	NC_000008.11:g.18222826A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu261Gly	rs1212053563	missense variant	-	NC_000008.11:g.18222829A>G	gnomAD
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	UniProt,dbSNP
NAT1	P18440	p.Glu261Lys	VAR_009073	missense variant	-	NC_000008.11:g.18222828G>A	UniProt
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu262Gln	rs1007452700	missense variant	-	NC_000008.11:g.18222831G>C	TOPMed,gnomAD
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	TOPMed
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	UniProt,dbSNP
NAT1	P18440	p.Ile263Val	VAR_009074	missense variant	-	NC_000008.11:g.18222834A>G	UniProt
NAT1	P18440	p.Ile263Thr	rs753003232	missense variant	-	NC_000008.11:g.18222835T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu264Gln	rs1017952816	missense variant	-	NC_000008.11:g.18222837G>C	TOPMed,gnomAD
NAT1	P18440	p.Val266Leu	rs767117934	missense variant	-	NC_000008.11:g.18222843G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val266Met	rs767117934	missense variant	-	NC_000008.11:g.18222843G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys268Glu	rs778308629	missense variant	-	NC_000008.11:g.18222849A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile270Val	rs1162315885	missense variant	-	NC_000008.11:g.18222855A>G	TOPMed,gnomAD
NAT1	P18440	p.Ile270Met	rs771571411	missense variant	-	NC_000008.11:g.18222857A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe271Leu	rs779619721	missense variant	-	NC_000008.11:g.18222858T>C	ExAC
NAT1	P18440	p.Ile273Thr	rs1029808953	missense variant	-	NC_000008.11:g.18222865T>C	TOPMed
NAT1	P18440	p.Ser274Cys	rs768248406	missense variant	-	NC_000008.11:g.18222868C>G	ExAC,gnomAD
NAT1	P18440	p.Leu275Phe	rs775977591	missense variant	-	NC_000008.11:g.18222872G>T	ExAC,gnomAD
NAT1	P18440	p.Lys278Asn	rs761549357	missense variant	-	NC_000008.11:g.18222881G>T	ExAC,gnomAD
NAT1	P18440	p.Val280Met	rs1329540913	missense variant	-	NC_000008.11:g.18222885G>A	gnomAD
NAT1	P18440	p.Pro281Thr	rs1231281905	missense variant	-	NC_000008.11:g.18222888C>A	gnomAD
NAT1	P18440	p.His283Arg	rs1014599491	missense variant	-	NC_000008.11:g.18222895A>G	TOPMed,gnomAD
NAT1	P18440	p.His283Asn	rs1004431924	missense variant	-	NC_000008.11:g.18222894C>A	TOPMed
NAT1	P18440	p.Gly284Ser	rs762676638	missense variant	-	NC_000008.11:g.18222897G>A	ExAC,gnomAD
NAT1	P18440	p.Gly284Arg	rs762676638	missense variant	-	NC_000008.11:g.18222897G>C	ExAC,gnomAD
NAT1	P18440	p.Gly284Asp	rs1389255907	missense variant	-	NC_000008.11:g.18222898G>A	gnomAD
NAT1	P18440	p.Arg286Ter	rs751565644	stop gained	-	NC_000008.11:g.18222903A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg286Gly	rs751565644	missense variant	-	NC_000008.11:g.18222903A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe287Ser	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>C	gnomAD
NAT1	P18440	p.Phe287Val	rs759361275	missense variant	-	NC_000008.11:g.18222906T>G	ExAC,gnomAD
NAT1	P18440	p.Phe287Tyr	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>A	gnomAD
NAT1	P18440	p.Ile290Val	rs529715867	missense variant	-	NC_000008.11:g.18222915A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Ter291Gln	rs1401778047	stop lost	-	NC_000008.11:g.18222918T>C	TOPMed
NAT1	P18440	p.Asp2Gly	rs1182777627	missense variant	-	NC_000008.11:g.18222052A>G	gnomAD
NAT1	P18440	p.Ile3Val	rs868623536	missense variant	-	NC_000008.11:g.18222054A>G	gnomAD
NAT1	P18440	p.Ile3Leu	rs868623536	missense variant	-	NC_000008.11:g.18222054A>C	gnomAD
NAT1	P18440	p.Ala5Glu	rs1372783672	missense variant	-	NC_000008.11:g.18222061C>A	TOPMed
NAT1	P18440	p.Arg9Ile	rs772568722	missense variant	-	NC_000008.11:g.18222073G>T	ExAC,gnomAD
NAT1	P18440	p.Ile10Asn	rs762718093	missense variant	-	NC_000008.11:g.18222076T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile10Thr	rs762718093	missense variant	-	NC_000008.11:g.18222076T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg16Ser	rs770525399	missense variant	-	NC_000008.11:g.18222095G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp20Val	rs1456672837	missense variant	-	NC_000008.11:g.18222106A>T	gnomAD
NAT1	P18440	p.Asp20Tyr	rs759261556	missense variant	-	NC_000008.11:g.18222105G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu21Val	rs767455795	missense variant	-	NC_000008.11:g.18222108T>G	ExAC,gnomAD
NAT1	P18440	p.Glu22Lys	rs1318508898	missense variant	-	NC_000008.11:g.18222111G>A	gnomAD
NAT1	P18440	p.Thr23Ala	rs767121351	missense variant	-	NC_000008.11:g.18222114A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu28Ile	rs764281519	missense variant	-	NC_000008.11:g.18222129C>A	ExAC,gnomAD
NAT1	P18440	p.His30Asn	rs867938850	missense variant	-	NC_000008.11:g.18222135C>A	gnomAD
NAT1	P18440	p.His30Tyr	rs867938850	missense variant	-	NC_000008.11:g.18222135C>T	gnomAD
NAT1	P18440	p.His30Leu	rs1455332072	missense variant	-	NC_000008.11:g.18222136A>T	TOPMed
NAT1	P18440	p.Gln31Arg	rs369130089	missense variant	-	NC_000008.11:g.18222139A>G	ESP,ExAC,gnomAD
NAT1	P18440	p.Ile32Val	rs757584542	missense variant	-	NC_000008.11:g.18222141A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Leu	rs757584542	missense variant	-	NC_000008.11:g.18222141A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile32Phe	rs757584542	missense variant	-	NC_000008.11:g.18222141A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Ter	rs56318881	stop gained	-	NC_000008.11:g.18222144C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg33Gln	rs111848753	missense variant	-	NC_000008.11:g.18222145G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala34Ser	rs758889084	missense variant	-	NC_000008.11:g.18222147G>T	ExAC,gnomAD
NAT1	P18440	p.Pro36Ala	rs1231619198	missense variant	-	NC_000008.11:g.18222153C>G	gnomAD
NAT1	P18440	p.Asn41Asp	rs780275360	missense variant	-	NC_000008.11:g.18222168A>G	ExAC,gnomAD
NAT1	P18440	p.Asn41His	rs780275360	missense variant	-	NC_000008.11:g.18222168A>C	ExAC,gnomAD
NAT1	P18440	p.Ile42Thr	rs1355361339	missense variant	-	NC_000008.11:g.18222172T>C	gnomAD
NAT1	P18440	p.His43Asn	rs747595397	missense variant	-	NC_000008.11:g.18222174C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His43Tyr	rs747595397	missense variant	-	NC_000008.11:g.18222174C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly45Val	rs1236531495	missense variant	-	NC_000008.11:g.18222181G>T	TOPMed
NAT1	P18440	p.Gly45Trp	rs181298696	missense variant	-	NC_000008.11:g.18222180G>T	1000Genomes,TOPMed
NAT1	P18440	p.Gly45Arg	rs181298696	missense variant	-	NC_000008.11:g.18222180G>A	1000Genomes,TOPMed
NAT1	P18440	p.Met48Ile	rs769023535	missense variant	-	NC_000008.11:g.18222191G>A	ExAC,gnomAD
NAT1	P18440	p.Leu52Ile	rs777369440	missense variant	-	NC_000008.11:g.18222201T>A	ExAC,gnomAD
NAT1	P18440	p.Ala54Val	rs1302880344	missense variant	-	NC_000008.11:g.18222208C>T	TOPMed
NAT1	P18440	p.Phe56Leu	rs748760955	missense variant	-	NC_000008.11:g.18222215T>G	ExAC,gnomAD
NAT1	P18440	p.Gln58His	rs770576147	missense variant	-	NC_000008.11:g.18222221A>T	ExAC,gnomAD
NAT1	P18440	p.Val59Leu	rs373598025	missense variant	-	NC_000008.11:g.18222222G>C	ESP,ExAC
NAT1	P18440	p.Val59Ala	rs745507855	missense variant	-	NC_000008.11:g.18222223T>C	ExAC,gnomAD
NAT1	P18440	p.Val60Leu	rs1368442859	missense variant	-	NC_000008.11:g.18222225G>C	TOPMed,gnomAD
NAT1	P18440	p.Arg62Thr	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>C	TOPMed,gnomAD
NAT1	P18440	p.Arg62Ile	rs1456685250	missense variant	-	NC_000008.11:g.18222232G>T	TOPMed,gnomAD
NAT1	P18440	p.Asn63Ser	rs1453728176	missense variant	-	NC_000008.11:g.18222235A>G	TOPMed
NAT1	P18440	p.Arg64Trp	rs56379106	missense variant	-	NC_000008.11:g.18222237C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg64Gln	rs138061602	missense variant	-	NC_000008.11:g.18222238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg64Trp	RCV000239134	missense variant	-	NC_000008.11:g.18222237C>T	ClinVar
NAT1	P18440	p.Gly65Asp	rs1435979876	missense variant	-	NC_000008.11:g.18222241G>A	TOPMed
NAT1	P18440	p.Gly66Glu	rs1392888904	missense variant	-	NC_000008.11:g.18222244G>A	TOPMed
NAT1	P18440	p.Gly66Arg	rs760682628	missense variant	-	NC_000008.11:g.18222243G>A	ExAC,gnomAD
NAT1	P18440	p.Trp67Ter	rs200617057	stop gained	-	NC_000008.11:g.18222248G>A	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp67Ter	rs1172703660	stop gained	-	NC_000008.11:g.18222247G>A	TOPMed
NAT1	P18440	p.Trp67Arg	rs1374012381	missense variant	-	NC_000008.11:g.18222246T>C	gnomAD
NAT1	P18440	p.Trp67Cys	rs200617057	missense variant	-	NC_000008.11:g.18222248G>C	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu75Val	rs1242293172	missense variant	-	NC_000008.11:g.18222270C>G	gnomAD
NAT1	P18440	p.Tyr76His	rs1274840625	missense variant	-	NC_000008.11:g.18222273T>C	TOPMed,gnomAD
NAT1	P18440	p.Tyr76Phe	rs1184525084	missense variant	-	NC_000008.11:g.18222274A>T	TOPMed
NAT1	P18440	p.Tyr76Ter	rs758659369	stop gained	-	NC_000008.11:g.18222275C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Cys	rs766818967	missense variant	-	NC_000008.11:g.18222278G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Ter	rs766818967	stop gained	-	NC_000008.11:g.18222278G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp77Ter	rs899099033	stop gained	-	NC_000008.11:g.18222277G>A	TOPMed
NAT1	P18440	p.Thr81Ala	rs1196494896	missense variant	-	NC_000008.11:g.18222288A>G	gnomAD
NAT1	P18440	p.Ile82Thr	rs781488745	missense variant	-	NC_000008.11:g.18222292T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile82Asn	rs781488745	missense variant	-	NC_000008.11:g.18222292T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile82Val	rs878972721	missense variant	-	NC_000008.11:g.18222291A>G	gnomAD
NAT1	P18440	p.Thr86Ser	rs1472009345	missense variant	-	NC_000008.11:g.18222304C>G	TOPMed,gnomAD
NAT1	P18440	p.Thr86Ala	rs1293918771	missense variant	-	NC_000008.11:g.18222303A>G	TOPMed
NAT1	P18440	p.Thr87Met	rs377662129	missense variant	-	NC_000008.11:g.18222307C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu89Ter	rs745561037	stop gained	-	NC_000008.11:g.18222313T>A	ExAC,gnomAD
NAT1	P18440	p.Gly90Glu	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>A	TOPMed
NAT1	P18440	p.Gly90Ala	rs1413473345	missense variant	-	NC_000008.11:g.18222316G>C	TOPMed
NAT1	P18440	p.Gly91Trp	rs906486901	missense variant	-	NC_000008.11:g.18222318G>T	TOPMed
NAT1	P18440	p.Tyr92Cys	rs771574299	missense variant	-	NC_000008.11:g.18222322A>G	ExAC
NAT1	P18440	p.Val93Phe	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>T	TOPMed,gnomAD
NAT1	P18440	p.Val93Leu	rs1003496685	missense variant	-	NC_000008.11:g.18222324G>C	TOPMed,gnomAD
NAT1	P18440	p.Thr96Ile	rs746715596	missense variant	-	NC_000008.11:g.18222334C>T	ExAC,gnomAD
NAT1	P18440	p.Pro97Ala	rs142535782	missense variant	-	NC_000008.11:g.18222336C>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Gly	rs776486965	missense variant	-	NC_000008.11:g.18222340C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala98Val	rs776486965	missense variant	-	NC_000008.11:g.18222340C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys99Asn	rs1355837022	missense variant	-	NC_000008.11:g.18222344A>C	gnomAD
NAT1	P18440	p.Lys99Arg	rs1294831136	missense variant	-	NC_000008.11:g.18222343A>G	gnomAD
NAT1	P18440	p.Lys100Asn	rs956774819	missense variant	-	NC_000008.11:g.18222347A>C	TOPMed
NAT1	P18440	p.Thr103Ala	rs1256959731	missense variant	-	NC_000008.11:g.18222354A>G	TOPMed
NAT1	P18440	p.Gly104Val	rs765445123	missense variant	-	NC_000008.11:g.18222358G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gly104Ser	rs761834764	missense variant	-	NC_000008.11:g.18222357G>A	ExAC,gnomAD
NAT1	P18440	p.Gly104Asp	rs765445123	missense variant	-	NC_000008.11:g.18222358G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Ile	rs370859724	missense variant	-	NC_000008.11:g.18222362G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Met105Val	rs1309516215	missense variant	-	NC_000008.11:g.18222360A>G	gnomAD
NAT1	P18440	p.Met105Arg	rs1228183829	missense variant	-	NC_000008.11:g.18222361T>G	gnomAD
NAT1	P18440	p.Ile106Met	rs751961199	missense variant	-	NC_000008.11:g.18222365T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile106Ser	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>G	TOPMed,gnomAD
NAT1	P18440	p.Ile106Phe	rs1227159696	missense variant	-	NC_000008.11:g.18222363A>T	TOPMed
NAT1	P18440	p.Ile106Asn	rs1482523937	missense variant	-	NC_000008.11:g.18222364T>A	TOPMed,gnomAD
NAT1	P18440	p.Leu108Ile	rs767910902	missense variant	-	NC_000008.11:g.18222369C>A	ExAC,gnomAD
NAT1	P18440	p.Leu108Arg	rs1192004687	missense variant	-	NC_000008.11:g.18222370T>G	gnomAD
NAT1	P18440	p.Gln111His	rs756584972	missense variant	-	NC_000008.11:g.18222380G>C	ExAC,gnomAD
NAT1	P18440	p.Gln111Leu	rs753271283	missense variant	-	NC_000008.11:g.18222379A>T	ExAC,gnomAD
NAT1	P18440	p.Val112Met	rs1170465216	missense variant	-	NC_000008.11:g.18222381G>A	gnomAD
NAT1	P18440	p.Thr113Ala	rs1232055758	missense variant	-	NC_000008.11:g.18222384A>G	TOPMed
NAT1	P18440	p.Thr113Ser	rs778415469	missense variant	-	NC_000008.11:g.18222385C>G	ExAC,gnomAD
NAT1	P18440	p.Ile114Val	rs745340680	missense variant	-	NC_000008.11:g.18222387A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Thr	rs145975713	missense variant	-	NC_000008.11:g.18222388T>C	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile114Asn	rs145975713	missense variant	-	NC_000008.11:g.18222388T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp115Glu	rs768399724	missense variant	-	NC_000008.11:g.18222392T>A	ExAC,gnomAD
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	UniProt,dbSNP
NAT1	P18440	p.Arg117Thr	VAR_009510	missense variant	-	NC_000008.11:g.18222397G>C	UniProt
NAT1	P18440	p.Arg117Thr	rs55641436	missense variant	-	NC_000008.11:g.18222397G>C	-
NAT1	P18440	p.Asn118Lys	rs781100714	missense variant	-	NC_000008.11:g.18222401C>A	ExAC,gnomAD
NAT1	P18440	p.Tyr119His	rs748142921	missense variant	-	NC_000008.11:g.18222402T>C	ExAC,gnomAD
NAT1	P18440	p.Ile120Phe	rs769808211	missense variant	-	NC_000008.11:g.18222405A>T	ExAC,gnomAD
NAT1	P18440	p.Ile120Asn	rs777637715	missense variant	-	NC_000008.11:g.18222406T>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Thr	rs777637715	missense variant	-	NC_000008.11:g.18222406T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile120Ser	rs777637715	missense variant	-	NC_000008.11:g.18222406T>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ala123Val	rs771202638	missense variant	-	NC_000008.11:g.18222415C>T	ExAC,gnomAD
NAT1	P18440	p.Phe125Ser	rs1166797430	missense variant	-	NC_000008.11:g.18222421T>C	TOPMed
NAT1	P18440	p.Arg127His	rs200857632	missense variant	-	NC_000008.11:g.18222427G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127Leu	rs200857632	missense variant	-	NC_000008.11:g.18222427G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg127Cys	rs759800046	missense variant	-	NC_000008.11:g.18222426C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser128Leu	rs761199497	missense variant	-	NC_000008.11:g.18222430C>T	ExAC,gnomAD
NAT1	P18440	p.Tyr129Phe	rs548004925	missense variant	-	NC_000008.11:g.18222433A>T	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr129Cys	rs548004925	missense variant	-	NC_000008.11:g.18222433A>G	1000Genomes,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln130His	rs376036465	missense variant	-	NC_000008.11:g.18222437G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Ter	rs1419034037	stop gained	-	NC_000008.11:g.18222442G>A	gnomAD
NAT1	P18440	p.Trp132Cys	rs754633858	missense variant	-	NC_000008.11:g.18222443G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp132Arg	rs751206939	missense variant	-	NC_000008.11:g.18222441T>C	ExAC,gnomAD
NAT1	P18440	p.Trp132Ter	rs754633858	stop gained	-	NC_000008.11:g.18222443G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Gln133Ter	rs1346740720	stop gained	-	NC_000008.11:g.18222444C>T	gnomAD
NAT1	P18440	p.Pro134Ser	rs1431281350	missense variant	-	NC_000008.11:g.18222447C>T	gnomAD
NAT1	P18440	p.Pro134His	rs1037552428	missense variant	-	NC_000008.11:g.18222448C>A	TOPMed
NAT1	P18440	p.Glu136Lys	rs1443144991	missense variant	-	NC_000008.11:g.18222453G>A	gnomAD
NAT1	P18440	p.Glu136Asp	rs769863219	missense variant	-	NC_000008.11:g.18222455G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile138Thr	rs749235522	missense variant	-	NC_000008.11:g.18222460T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser139Tyr	rs1287040056	missense variant	-	NC_000008.11:g.18222463C>A	gnomAD
NAT1	P18440	p.Asp142Val	rs1239138621	missense variant	-	NC_000008.11:g.18222472A>T	TOPMed
NAT1	P18440	p.Asp142Tyr	rs770983742	missense variant	-	NC_000008.11:g.18222471G>T	ExAC,gnomAD
NAT1	P18440	p.Pro144Ser	rs774460271	missense variant	-	NC_000008.11:g.18222477C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Pro147Ser	rs529845573	missense variant	-	NC_000008.11:g.18222486C>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Cys148Arg	rs1390508874	missense variant	-	NC_000008.11:g.18222489T>C	TOPMed
NAT1	P18440	p.Val149Ile	rs4987076	missense variant	-	NC_000008.11:g.18222492G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val149Leu	rs4987076	missense variant	-	NC_000008.11:g.18222492G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val149Ile	RCV000455973	missense variant	-	NC_000008.11:g.18222492G>A	ClinVar
NAT1	P18440	p.Arg151Pro	rs370302501	missense variant	-	NC_000008.11:g.18222499G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151Cys	rs760970670	missense variant	-	NC_000008.11:g.18222498C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg151His	rs370302501	missense variant	-	NC_000008.11:g.18222499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu152Trp	rs762346362	missense variant	-	NC_000008.11:g.18222502T>G	ExAC,gnomAD
NAT1	P18440	p.Thr153Met	rs374226986	missense variant	-	NC_000008.11:g.18222505C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr153Ala	rs1392495324	missense variant	-	NC_000008.11:g.18222504A>G	gnomAD
NAT1	P18440	p.Glu154Ter	rs566014052	stop gained	-	NC_000008.11:g.18222507G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Glu154Gln	rs566014052	missense variant	-	NC_000008.11:g.18222507G>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Gly157Ter	rs752556604	stop gained	-	NC_000008.11:g.18222516G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe158Leu	rs1291836193	missense variant	-	NC_000008.11:g.18222521C>G	gnomAD
NAT1	P18440	p.Phe158Leu	rs756034918	missense variant	-	NC_000008.11:g.18222519T>C	ExAC,gnomAD
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Trp159Arg	rs1255063436	missense variant	-	NC_000008.11:g.18222522T>C	TOPMed
NAT1	P18440	p.Trp159Cys	rs777706725	missense variant	-	NC_000008.11:g.18222524G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu161Pro	rs554793519	missense variant	-	NC_000008.11:g.18222529T>C	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Arg165Lys	rs778884010	missense variant	-	NC_000008.11:g.18222541G>A	ExAC,gnomAD
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt,dbSNP
NAT1	P18440	p.ArgGlu166ThrGln	VAR_009511	delins	-	NC_000008.11:g.18222544_18222546inv	UniProt
NAT1	P18440	p.ArgGlu166ThrGln	rs72554608	missense variant	-	NC_000008.11:g.18222544_18222546inv	-
NAT1	P18440	p.Gln168His	rs139028182	missense variant	-	NC_000008.11:g.18222551G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr169Cys	rs775745792	missense variant	-	NC_000008.11:g.18222553A>G	ExAC,gnomAD
NAT1	P18440	p.Glu173Lys	rs1415403353	missense variant	-	NC_000008.11:g.18222564G>A	TOPMed,gnomAD
NAT1	P18440	p.Glu174Ter	rs371668421	stop gained	-	NC_000008.11:g.18222567G>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu174Lys	rs371668421	missense variant	-	NC_000008.11:g.18222567G>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe175Leu	rs762246777	missense variant	-	NC_000008.11:g.18222570T>C	ExAC,gnomAD
NAT1	P18440	p.Leu176Phe	rs765738013	missense variant	-	NC_000008.11:g.18222573C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu176Ile	rs765738013	missense variant	-	NC_000008.11:g.18222573C>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.His177Leu	rs773741828	missense variant	-	NC_000008.11:g.18222577A>T	ExAC,gnomAD
NAT1	P18440	p.Asp179Glu	rs1022148954	missense variant	-	NC_000008.11:g.18222584T>A	TOPMed
NAT1	P18440	p.Asp179Val	rs987151115	missense variant	-	NC_000008.11:g.18222583A>T	TOPMed
NAT1	P18440	p.Asp179Asn	rs1009215309	missense variant	-	NC_000008.11:g.18222582G>A	TOPMed
NAT1	P18440	p.Ser184Gly	rs1357745556	missense variant	-	NC_000008.11:g.18222597A>G	gnomAD
NAT1	P18440	p.Arg187Gln	rs4986782	missense variant	-	NC_000008.11:g.18222607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg187Ter	rs5030839	stop gained	-	NC_000008.11:g.18222606C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr190Asn	rs1017403408	missense variant	-	NC_000008.11:g.18222615T>A	gnomAD
NAT1	P18440	p.Ser191Phe	rs141552883	missense variant	-	NC_000008.11:g.18222619C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe192Val	rs1438261068	missense variant	-	NC_000008.11:g.18222621T>G	gnomAD
NAT1	P18440	p.Lys195Ter	rs1486518987	stop gained	-	NC_000008.11:g.18222630A>T	TOPMed,gnomAD
NAT1	P18440	p.Lys195Arg	rs1188424795	missense variant	-	NC_000008.11:g.18222631A>G	gnomAD
NAT1	P18440	p.Pro196Ser	rs757144152	missense variant	-	NC_000008.11:g.18222633C>T	ExAC,gnomAD
NAT1	P18440	p.Arg197Ter	rs778732687	stop gained	-	NC_000008.11:g.18222636C>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg197Gln	rs1044890902	missense variant	-	NC_000008.11:g.18222637G>A	TOPMed,gnomAD
NAT1	P18440	p.Arg197Gly	rs778732687	missense variant	-	NC_000008.11:g.18222636C>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Thr198Pro	rs1168975907	missense variant	-	NC_000008.11:g.18222639A>C	TOPMed,gnomAD
NAT1	P18440	p.Ile199Val	rs780073557	missense variant	-	NC_000008.11:g.18222642A>G	ExAC,gnomAD
NAT1	P18440	p.Ile199Thr	rs144790969	missense variant	-	NC_000008.11:g.18222643T>C	ESP,ExAC,gnomAD
NAT1	P18440	p.Asp201Gly	rs768813958	missense variant	-	NC_000008.11:g.18222649A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asp201Val	rs768813958	missense variant	-	NC_000008.11:g.18222649A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu203Asp	rs776888648	missense variant	-	NC_000008.11:g.18222656G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu203Gln	rs1428225257	missense variant	-	NC_000008.11:g.18222654G>C	gnomAD
NAT1	P18440	p.Ser204Thr	rs1339465727	missense variant	-	NC_000008.11:g.18222657T>A	gnomAD
NAT1	P18440	p.Met205Thr	rs1231690763	missense variant	-	NC_000008.11:g.18222661T>C	TOPMed
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	UniProt,dbSNP
NAT1	P18440	p.Met205Val	VAR_009070	missense variant	-	NC_000008.11:g.18222660A>G	UniProt
NAT1	P18440	p.Met205Val	rs72554609	missense variant	-	NC_000008.11:g.18222660A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asn206Thr	rs1346668677	missense variant	-	NC_000008.11:g.18222664A>C	TOPMed
NAT1	P18440	p.Thr207Ile	rs4987195	missense variant	-	NC_000008.11:g.18222667C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Tyr208His	rs773830510	missense variant	-	NC_000008.11:g.18222669T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu209Gln	rs763554945	missense variant	-	NC_000008.11:g.18222673T>A	ExAC,gnomAD
NAT1	P18440	p.Gln210Ter	rs767176233	stop gained	-	NC_000008.11:g.18222675C>T	ExAC,gnomAD
NAT1	P18440	p.Ser214Ala	rs4986783	missense variant	-	NC_000008.11:g.18222687T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe217Val	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>G	gnomAD
NAT1	P18440	p.Phe217Leu	rs1171885310	missense variant	-	NC_000008.11:g.18222696T>C	gnomAD
NAT1	P18440	p.Thr218Asn	rs760427743	missense variant	-	NC_000008.11:g.18222700C>A	ExAC,gnomAD
NAT1	P18440	p.Lys220Ile	rs941561436	missense variant	-	NC_000008.11:g.18222706A>T	TOPMed
NAT1	P18440	p.Ser221Leu	rs1434378503	missense variant	-	NC_000008.11:g.18222709C>T	TOPMed
NAT1	P18440	p.Cys223Ser	rs753587469	missense variant	-	NC_000008.11:g.18222715G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Cys223Tyr	rs753587469	missense variant	-	NC_000008.11:g.18222715G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ser224Tyr	rs905333539	missense variant	-	NC_000008.11:g.18222718C>A	gnomAD
NAT1	P18440	p.Ser224Phe	rs905333539	missense variant	-	NC_000008.11:g.18222718C>T	gnomAD
NAT1	P18440	p.Thr227Ser	rs1170029643	missense variant	-	NC_000008.11:g.18222727C>G	TOPMed
NAT1	P18440	p.Gly230Val	rs762091516	missense variant	-	NC_000008.11:g.18222736G>T	ExAC,gnomAD
NAT1	P18440	p.Gly230Arg	rs764935585	missense variant	-	NC_000008.11:g.18222735G>A	ExAC,gnomAD
NAT1	P18440	p.Gly230Glu	rs762091516	missense variant	-	NC_000008.11:g.18222736G>A	ExAC,gnomAD
NAT1	P18440	p.Val231Phe	rs201916736	missense variant	-	NC_000008.11:g.18222738G>T	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.His232Gln	rs1437244884	missense variant	-	NC_000008.11:g.18222743C>G	gnomAD
NAT1	P18440	p.Cys233Gly	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>G	gnomAD
NAT1	P18440	p.Cys233Arg	rs1373006372	missense variant	-	NC_000008.11:g.18222744T>C	gnomAD
NAT1	P18440	p.Thr240Ile	rs371915822	missense variant	-	NC_000008.11:g.18222766C>T	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Tyr	rs1285170236	missense variant	-	NC_000008.11:g.18222768C>T	gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>A	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.His241Pro	rs1468222480	missense variant	-	NC_000008.11:g.18222769A>C	gnomAD
NAT1	P18440	p.His241Gln	rs375989454	missense variant	-	NC_000008.11:g.18222770T>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg242Gly	rs748308092	missense variant	-	NC_000008.11:g.18222771A>G	ExAC,gnomAD
NAT1	P18440	p.Arg242Lys	rs1346325688	missense variant	-	NC_000008.11:g.18222772G>A	gnomAD
NAT1	P18440	p.Tyr246Cys	rs201129487	missense variant	-	NC_000008.11:g.18222784A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Lys247Met	rs771519872	missense variant	-	NC_000008.11:g.18222787A>T	ExAC,TOPMed
NAT1	P18440	p.Asn249Asp	rs370049063	missense variant	-	NC_000008.11:g.18222792A>G	ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Asn249Ser	rs768034302	missense variant	-	NC_000008.11:g.18222793A>G	ExAC,gnomAD
NAT1	P18440	p.Thr250Ile	rs776407561	missense variant	-	NC_000008.11:g.18222796C>T	ExAC,gnomAD
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	UniProt,dbSNP
NAT1	P18440	p.Asp251Val	VAR_009072	missense variant	-	NC_000008.11:g.18222799A>T	UniProt
NAT1	P18440	p.Asp251Val	rs56172717	missense variant	-	NC_000008.11:g.18222799A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Leu252Ile	rs1357252117	missense variant	-	NC_000008.11:g.18222801C>A	TOPMed
NAT1	P18440	p.Glu254Gly	rs1193669448	missense variant	-	NC_000008.11:g.18222808A>G	TOPMed,gnomAD
NAT1	P18440	p.Glu254Asp	rs750169788	missense variant	-	NC_000008.11:g.18222809G>C	ExAC,gnomAD
NAT1	P18440	p.Leu258Pro	rs1333940244	missense variant	-	NC_000008.11:g.18222820T>C	gnomAD
NAT1	P18440	p.Leu258Val	rs762908192	missense variant	-	NC_000008.11:g.18222819C>G	ExAC
NAT1	P18440	p.Ser259Arg	rs4986991	missense variant	-	NC_000008.11:g.18222824T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu260Ala	rs759272916	missense variant	-	NC_000008.11:g.18222826A>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu261Gly	rs1212053563	missense variant	-	NC_000008.11:g.18222829A>G	gnomAD
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu261Lys	rs72554610	missense variant	-	NC_000008.11:g.18222828G>A	UniProt,dbSNP
NAT1	P18440	p.Glu261Lys	VAR_009073	missense variant	-	NC_000008.11:g.18222828G>A	UniProt
NAT1	P18440	p.Glu262Gln	rs1007452700	missense variant	-	NC_000008.11:g.18222831G>C	TOPMed,gnomAD
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	TOPMed
NAT1	P18440	p.Ile263Val	rs72554611	missense variant	-	NC_000008.11:g.18222834A>G	UniProt,dbSNP
NAT1	P18440	p.Ile263Val	VAR_009074	missense variant	-	NC_000008.11:g.18222834A>G	UniProt
NAT1	P18440	p.Ile263Thr	rs753003232	missense variant	-	NC_000008.11:g.18222835T>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Glu264Gln	rs1017952816	missense variant	-	NC_000008.11:g.18222837G>C	TOPMed,gnomAD
NAT1	P18440	p.Val266Met	rs767117934	missense variant	-	NC_000008.11:g.18222843G>A	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Val266Leu	rs767117934	missense variant	-	NC_000008.11:g.18222843G>C	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Lys268Glu	rs778308629	missense variant	-	NC_000008.11:g.18222849A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Ile270Val	rs1162315885	missense variant	-	NC_000008.11:g.18222855A>G	TOPMed,gnomAD
NAT1	P18440	p.Ile270Met	rs771571411	missense variant	-	NC_000008.11:g.18222857A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe271Leu	rs779619721	missense variant	-	NC_000008.11:g.18222858T>C	ExAC
NAT1	P18440	p.Ile273Thr	rs1029808953	missense variant	-	NC_000008.11:g.18222865T>C	TOPMed
NAT1	P18440	p.Ser274Cys	rs768248406	missense variant	-	NC_000008.11:g.18222868C>G	ExAC,gnomAD
NAT1	P18440	p.Leu275Phe	rs775977591	missense variant	-	NC_000008.11:g.18222872G>T	ExAC,gnomAD
NAT1	P18440	p.Lys278Asn	rs761549357	missense variant	-	NC_000008.11:g.18222881G>T	ExAC,gnomAD
NAT1	P18440	p.Val280Met	rs1329540913	missense variant	-	NC_000008.11:g.18222885G>A	gnomAD
NAT1	P18440	p.Pro281Thr	rs1231281905	missense variant	-	NC_000008.11:g.18222888C>A	gnomAD
NAT1	P18440	p.His283Arg	rs1014599491	missense variant	-	NC_000008.11:g.18222895A>G	TOPMed,gnomAD
NAT1	P18440	p.His283Asn	rs1004431924	missense variant	-	NC_000008.11:g.18222894C>A	TOPMed
NAT1	P18440	p.Gly284Ser	rs762676638	missense variant	-	NC_000008.11:g.18222897G>A	ExAC,gnomAD
NAT1	P18440	p.Gly284Arg	rs762676638	missense variant	-	NC_000008.11:g.18222897G>C	ExAC,gnomAD
NAT1	P18440	p.Gly284Asp	rs1389255907	missense variant	-	NC_000008.11:g.18222898G>A	gnomAD
NAT1	P18440	p.Arg286Gly	rs751565644	missense variant	-	NC_000008.11:g.18222903A>G	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Arg286Ter	rs751565644	stop gained	-	NC_000008.11:g.18222903A>T	ExAC,TOPMed,gnomAD
NAT1	P18440	p.Phe287Tyr	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>A	gnomAD
NAT1	P18440	p.Phe287Ser	rs1257490235	missense variant	-	NC_000008.11:g.18222907T>C	gnomAD
NAT1	P18440	p.Phe287Val	rs759361275	missense variant	-	NC_000008.11:g.18222906T>G	ExAC,gnomAD
NAT1	P18440	p.Ile290Val	rs529715867	missense variant	-	NC_000008.11:g.18222915A>G	1000Genomes,ExAC,gnomAD
NAT1	P18440	p.Ter291Gln	rs1401778047	stop lost	-	NC_000008.11:g.18222918T>C	TOPMed
ITGB6	P18564	p.Gly2Glu	rs1429580834	missense variant	-	NC_000002.12:g.160200059C>T	gnomAD
ITGB6	P18564	p.Gly2Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160200060C>T	NCI-TCGA
ITGB6	P18564	p.Ile3Phe	rs142866134	missense variant	-	NC_000002.12:g.160200057T>A	ESP,ExAC
ITGB6	P18564	p.Glu4Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160200054C>T	NCI-TCGA
ITGB6	P18564	p.Leu6Phe	rs568630388	missense variant	-	NC_000002.12:g.160200048G>A	1000Genomes
ITGB6	P18564	p.Leu6IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.160200015_160200048CATTCCTTCCTAGAAATAGAAAGAACAGGCAAAG>-	NCI-TCGA
ITGB6	P18564	p.Cys7Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.160200043G>T	NCI-TCGA
ITGB6	P18564	p.Leu8Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160200042G>T	NCI-TCGA
ITGB6	P18564	p.Phe9Leu	rs750372730	missense variant	-	NC_000002.12:g.160200037G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu11Pro	rs765208666	missense variant	-	NC_000002.12:g.160200032A>G	ExAC,gnomAD
ITGB6	P18564	p.Leu13Gln	rs1442512337	missense variant	-	NC_000002.12:g.160200026A>T	gnomAD
ITGB6	P18564	p.Gly14Glu	rs776446082	missense variant	-	NC_000002.12:g.160200023C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly14Arg	rs370341448	missense variant	-	NC_000002.12:g.160200024C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly14Glu	rs776446082	missense variant	-	NC_000002.12:g.160200023C>T	NCI-TCGA
ITGB6	P18564	p.Arg15Lys	rs188990572	missense variant	-	NC_000002.12:g.160200020C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn16His	rs144155990	missense variant	-	NC_000002.12:g.160200018T>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn16Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160200016A>C	NCI-TCGA
ITGB6	P18564	p.Val19Ile	rs760097625	missense variant	-	NC_000002.12:g.160200009C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln20Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160200005T>G	NCI-TCGA
ITGB6	P18564	p.Gly22Ser	COSM4911524	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160199256C>T	NCI-TCGA Cosmic
ITGB6	P18564	p.Ala24Asp	rs753809581	missense variant	-	NC_000002.12:g.160199249G>T	ExAC,gnomAD
ITGB6	P18564	p.Gly26Glu	rs1338078187	missense variant	-	NC_000002.12:g.160199243C>T	gnomAD
ITGB6	P18564	p.Gly26Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160199244C>T	NCI-TCGA
ITGB6	P18564	p.Ala28GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.160199238C>-	NCI-TCGA
ITGB6	P18564	p.Glu29Gly	rs1455056622	missense variant	-	NC_000002.12:g.160199234T>C	gnomAD
ITGB6	P18564	p.Thr30Ser	rs933060964	missense variant	-	NC_000002.12:g.160199231G>C	TOPMed
ITGB6	P18564	p.Thr30Asn	rs933060964	missense variant	-	NC_000002.12:g.160199231G>T	TOPMed
ITGB6	P18564	p.Asp33Glu	rs1288818021	missense variant	-	NC_000002.12:g.160199221G>T	TOPMed
ITGB6	P18564	p.Cys34Ter	rs1447908074	stop gained	-	NC_000002.12:g.160199218G>T	TOPMed
ITGB6	P18564	p.Leu36Pro	rs1407406012	missense variant	-	NC_000002.12:g.160199213A>G	gnomAD
ITGB6	P18564	p.Ile37Val	rs1456041794	missense variant	-	NC_000002.12:g.160199211T>C	TOPMed,gnomAD
ITGB6	P18564	p.Pro39Leu	rs755954161	missense variant	-	NC_000002.12:g.160199204G>A	ExAC,gnomAD
ITGB6	P18564	p.Pro39Leu	rs755954161	missense variant	-	NC_000002.12:g.160199204G>A	NCI-TCGA
ITGB6	P18564	p.Gln40Arg	rs558509748	missense variant	-	NC_000002.12:g.160199201T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln40Lys	rs1406168951	missense variant	-	NC_000002.12:g.160199202G>T	gnomAD
ITGB6	P18564	p.Gln40Leu	rs558509748	missense variant	-	NC_000002.12:g.160199201T>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys41Tyr	rs767191750	missense variant	-	NC_000002.12:g.160199198C>T	ExAC
ITGB6	P18564	p.Ala42Gly	rs150547491	missense variant	-	NC_000002.12:g.160199195G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Trp43Ter	rs755330939	stop gained	-	NC_000002.12:g.160199191C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys44Arg	rs765905953	missense variant	-	NC_000002.12:g.160199190A>G	ExAC,gnomAD
ITGB6	P18564	p.Ala45Val	rs763423532	missense variant	-	NC_000002.12:g.160199186G>A	ExAC,gnomAD
ITGB6	P18564	p.Asn48Ser	rs1370036283	missense variant	-	NC_000002.12:g.160196419T>C	gnomAD
ITGB6	P18564	p.Asn48Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160196418A>C	NCI-TCGA
ITGB6	P18564	p.Phe49Leu	rs1322939202	missense variant	-	NC_000002.12:g.160196415A>T	TOPMed
ITGB6	P18564	p.Thr50Ala	rs762386614	missense variant	-	NC_000002.12:g.160196414T>C	ExAC,gnomAD
ITGB6	P18564	p.Thr50Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160196413G>A	NCI-TCGA
ITGB6	P18564	p.His51Tyr	rs1014857218	missense variant	-	NC_000002.12:g.160196411G>A	TOPMed,gnomAD
ITGB6	P18564	p.His51Leu	rs1420201963	missense variant	-	NC_000002.12:g.160196410T>A	gnomAD
ITGB6	P18564	p.His51Tyr	rs1014857218	missense variant	-	NC_000002.12:g.160196411G>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Ser53Pro	rs761037603	missense variant	-	NC_000002.12:g.160196405A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser53Cys	rs895833975	missense variant	-	NC_000002.12:g.160196404G>C	TOPMed
ITGB6	P18564	p.Ser53Cys	rs895833975	missense variant	-	NC_000002.12:g.160196404G>C	NCI-TCGA Cosmic
ITGB6	P18564	p.Ser53Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160196405A>T	NCI-TCGA
ITGB6	P18564	p.Gly54GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.160196403_160196404insATTGT	NCI-TCGA
ITGB6	P18564	p.Val55Ala	rs1270760123	missense variant	-	NC_000002.12:g.160196398A>G	gnomAD
ITGB6	P18564	p.Gly56Ser	rs1482484963	missense variant	-	NC_000002.12:g.160196396C>T	gnomAD
ITGB6	P18564	p.Gly56Asp	rs143336326	missense variant	-	NC_000002.12:g.160196395C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu57Lys	rs774250804	missense variant	-	NC_000002.12:g.160196393C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu57Lys	rs774250804	missense variant	-	NC_000002.12:g.160196393C>T	NCI-TCGA,NCI-TCGA Cosmic
ITGB6	P18564	p.Arg58Met	rs1274368531	missense variant	-	NC_000002.12:g.160196389C>A	TOPMed,gnomAD
ITGB6	P18564	p.Arg58Thr	rs1274368531	missense variant	-	NC_000002.12:g.160196389C>G	TOPMed,gnomAD
ITGB6	P18564	p.Cys59Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160196386C>T	NCI-TCGA
ITGB6	P18564	p.Asp60Glu	rs1378844949	missense variant	-	NC_000002.12:g.160196382A>T	TOPMed
ITGB6	P18564	p.Thr61Ile	rs1219149761	missense variant	-	NC_000002.12:g.160196380G>A	TOPMed,gnomAD
ITGB6	P18564	p.Thr61Asn	rs1219149761	missense variant	-	NC_000002.12:g.160196380G>T	TOPMed,gnomAD
ITGB6	P18564	p.Pro62Leu	rs748070197	missense variant	-	NC_000002.12:g.160196377G>A	ExAC,gnomAD
ITGB6	P18564	p.Pro62Ser	rs531441228	missense variant	-	NC_000002.12:g.160196378G>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Pro62Ala	rs531441228	missense variant	-	NC_000002.12:g.160196378G>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Asn64His	rs1350054159	missense variant	-	NC_000002.12:g.160196372T>G	gnomAD
ITGB6	P18564	p.Asn64Lys	rs139380804	missense variant	-	NC_000002.12:g.160196370G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn64Lys	rs139380804	missense variant	-	NC_000002.12:g.160196370G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu65Ile	rs369726068	missense variant	-	NC_000002.12:g.160196369G>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu65Val	rs369726068	missense variant	-	NC_000002.12:g.160196369G>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu65Phe	rs369726068	missense variant	-	NC_000002.12:g.160196369G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys70Arg	rs764621080	missense variant	-	NC_000002.12:g.160196354A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys70Ser	rs764621080	missense variant	-	NC_000002.12:g.160196354A>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln71Lys	rs1176834548	missense variant	-	NC_000002.12:g.160196351G>T	gnomAD
ITGB6	P18564	p.Gln71Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.160196351G>A	NCI-TCGA
ITGB6	P18564	p.Ile75Phe	rs913009965	missense variant	-	NC_000002.12:g.160196339T>A	TOPMed
ITGB6	P18564	p.Glu76Ter	rs764638718	stop gained	-	NC_000002.12:g.160196336C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu76Lys	rs764638718	missense variant	-	NC_000002.12:g.160196336C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn77Lys	rs1480709067	missense variant	-	NC_000002.12:g.160196331G>C	gnomAD
ITGB6	P18564	p.Ser80Phe	rs943658539	missense variant	-	NC_000002.12:g.160196323G>A	TOPMed,gnomAD
ITGB6	P18564	p.Val82Ile	rs1460342706	missense variant	-	NC_000002.12:g.160196318C>T	TOPMed,gnomAD
ITGB6	P18564	p.Val82Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160196318C>A	NCI-TCGA
ITGB6	P18564	p.Ile84Val	rs752967555	missense variant	-	NC_000002.12:g.160196312T>C	ExAC,gnomAD
ITGB6	P18564	p.Ile84Met	rs571733477	missense variant	-	NC_000002.12:g.160196310T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu85Phe	rs1328875561	missense variant	-	NC_000002.12:g.160196309G>A	gnomAD
ITGB6	P18564	p.Leu85Ile	COSM1008251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160196309G>T	NCI-TCGA Cosmic
ITGB6	P18564	p.Asn87Ser	rs759659602	missense variant	-	NC_000002.12:g.160196302T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys88Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160196299T>G	NCI-TCGA
ITGB6	P18564	p.Leu90Val	rs770981055	missense variant	-	NC_000002.12:g.160196294G>C	ExAC,gnomAD
ITGB6	P18564	p.Ser91Asn	rs1450395230	missense variant	-	NC_000002.12:g.160196290C>T	TOPMed,gnomAD
ITGB6	P18564	p.Ser91Ile	rs1450395230	missense variant	-	NC_000002.12:g.160196290C>A	TOPMed,gnomAD
ITGB6	P18564	p.Ser91Gly	rs374377727	missense variant	-	NC_000002.12:g.160196291T>C	ESP
ITGB6	P18564	p.Val92Ile	rs200784593	missense variant	-	NC_000002.12:g.160196288C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val92Leu	rs200784593	missense variant	-	NC_000002.12:g.160196288C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg94Lys	rs1268887120	missense variant	-	NC_000002.12:g.160196281C>T	TOPMed
ITGB6	P18564	p.Gln95His	COSM4085928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160196277C>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Lys96Gln	rs768539900	missense variant	-	NC_000002.12:g.160196276T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn97Ser	rs375627531	missense variant	-	NC_000002.12:g.160196272T>C	gnomAD
ITGB6	P18564	p.Ser98Cys	rs545332900	missense variant	-	NC_000002.12:g.160196270T>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser99Ala	rs750388139	missense variant	-	NC_000002.12:g.160196267A>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp100Glu	rs771795596	missense variant	-	NC_000002.12:g.160196262G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile101Val	rs1445901435	missense variant	-	NC_000002.12:g.160196261T>C	gnomAD
ITGB6	P18564	p.Val102Phe	rs745503924	missense variant	-	NC_000002.12:g.160196258C>A	ExAC,gnomAD
ITGB6	P18564	p.Val102Ala	rs1456621730	missense variant	-	NC_000002.12:g.160196257A>G	TOPMed
ITGB6	P18564	p.Ala105Val	rs61758143	missense variant	-	NC_000002.12:g.160196248G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro106Leu	rs753334452	missense variant	-	NC_000002.12:g.160196245G>A	ExAC,gnomAD
ITGB6	P18564	p.Gln107Ter	rs778458175	stop gained	-	NC_000002.12:g.160196243G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser108Ile	rs756642881	missense variant	-	NC_000002.12:g.160196239C>A	ExAC,gnomAD
ITGB6	P18564	p.Ile110Thr	rs371257499	missense variant	-	NC_000002.12:g.160196233A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile110Asn	rs371257499	missense variant	-	NC_000002.12:g.160196233A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu111Phe	rs1229767855	missense variant	-	NC_000002.12:g.160196231G>A	TOPMed
ITGB6	P18564	p.Leu111Arg	rs1014930748	missense variant	-	NC_000002.12:g.160196230A>C	TOPMed
ITGB6	P18564	p.Leu113Ser	rs759857053	missense variant	-	NC_000002.12:g.160196224A>G	ExAC,gnomAD
ITGB6	P18564	p.Leu113Met	rs767745535	missense variant	-	NC_000002.12:g.160196225A>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro115Gln	rs1382519914	missense variant	-	NC_000002.12:g.160196218G>T	gnomAD
ITGB6	P18564	p.Gly116Arg	rs567764082	missense variant	-	NC_000002.12:g.160196216C>G	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Gly116Cys	rs567764082	missense variant	-	NC_000002.12:g.160196216C>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ala118Val	rs544813266	missense variant	-	NC_000002.12:g.160195609G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln122His	rs758595294	missense variant	-	NC_000002.12:g.160195596C>A	ExAC,gnomAD
ITGB6	P18564	p.Gln122Arg	rs1337499144	missense variant	-	NC_000002.12:g.160195597T>C	gnomAD
ITGB6	P18564	p.Gln122His	rs758595294	missense variant	-	NC_000002.12:g.160195596C>G	ExAC,gnomAD
ITGB6	P18564	p.His124Arg	rs1322574269	missense variant	-	NC_000002.12:g.160195591T>C	gnomAD
ITGB6	P18564	p.His124Gln	rs765295259	missense variant	-	NC_000002.12:g.160195590A>T	ExAC,gnomAD
ITGB6	P18564	p.Val125Phe	rs1406422933	missense variant	-	NC_000002.12:g.160195589C>A	gnomAD
ITGB6	P18564	p.Arg126His	rs775303141	missense variant	-	NC_000002.12:g.160195585C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg126Cys	rs760724592	missense variant	-	NC_000002.12:g.160195586G>A	ExAC,gnomAD
ITGB6	P18564	p.Arg126Leu	rs775303141	missense variant	-	NC_000002.12:g.160195585C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr128Ser	rs1327113841	missense variant	-	NC_000002.12:g.160195579G>C	TOPMed
ITGB6	P18564	p.Asp130Asn	rs373385870	missense variant	-	NC_000002.12:g.160195574C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp130Glu	rs1262966274	missense variant	-	NC_000002.12:g.160195572G>C	TOPMed
ITGB6	P18564	p.Asp130Gly	rs770759542	missense variant	-	NC_000002.12:g.160195573T>C	ExAC,gnomAD
ITGB6	P18564	p.Tyr131Cys	rs748921832	missense variant	-	NC_000002.12:g.160195570T>C	ExAC,gnomAD
ITGB6	P18564	p.Pro132Leu	rs369275471	missense variant	-	NC_000002.12:g.160195567G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val133Ala	rs1473599554	missense variant	-	NC_000002.12:g.160195564A>G	TOPMed
ITGB6	P18564	p.Asp134Gly	rs574179737	missense variant	-	NC_000002.12:g.160195561T>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Leu135Ser	rs747421856	missense variant	-	NC_000002.12:g.160195558A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Tyr136His	rs780364416	missense variant	-	NC_000002.12:g.160195556A>G	ExAC,gnomAD
ITGB6	P18564	p.Tyr137Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.160195551_160195552insCCTC	NCI-TCGA
ITGB6	P18564	p.Leu138Pro	rs758685362	missense variant	-	NC_000002.12:g.160195549A>G	ExAC,gnomAD
ITGB6	P18564	p.Met139Thr	rs750629583	missense variant	-	NC_000002.12:g.160195546A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu141His	rs1490234134	missense variant	-	NC_000002.12:g.160195540A>T	gnomAD
ITGB6	P18564	p.Ala143Thr	rs140015315	missense variant	-	NC_000002.12:g.160195535C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala143Thr	rs140015315	missense variant	Amelogenesis imperfecta 1H (AI1H)	NC_000002.12:g.160195535C>T	UniProt,dbSNP
ITGB6	P18564	p.Ala143Thr	VAR_073328	missense variant	Amelogenesis imperfecta 1H (AI1H)	NC_000002.12:g.160195535C>T	UniProt
ITGB6	P18564	p.Ala143Thr	RCV000157638	missense variant	Amelogenesis imperfecta, type IH (AI1H)	NC_000002.12:g.160195535C>T	ClinVar
ITGB6	P18564	p.Ser144Phe	COSM3568368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160195531G>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Met145Val	rs1305834846	missense variant	-	NC_000002.12:g.160195529T>C	TOPMed,gnomAD
ITGB6	P18564	p.Met145Thr	rs767381287	missense variant	-	NC_000002.12:g.160195528A>G	ExAC,gnomAD
ITGB6	P18564	p.Asp147Asn	rs1337026770	missense variant	-	NC_000002.12:g.160195523C>T	gnomAD
ITGB6	P18564	p.Asp148Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160195520C>T	NCI-TCGA
ITGB6	P18564	p.Thr151Ala	rs766276805	missense variant	-	NC_000002.12:g.160195511T>C	ExAC,gnomAD
ITGB6	P18564	p.Ile152Met	rs1415659289	missense variant	-	NC_000002.12:g.160195506T>C	TOPMed
ITGB6	P18564	p.Glu154Ter	rs938761545	stop gained	-	NC_000002.12:g.160195502C>A	TOPMed,gnomAD
ITGB6	P18564	p.Glu154Ala	rs1020941015	missense variant	-	NC_000002.12:g.160195501T>G	TOPMed,gnomAD
ITGB6	P18564	p.Leu155Arg	rs1365638497	missense variant	-	NC_000002.12:g.160195498A>C	gnomAD
ITGB6	P18564	p.Gly156Val	rs773000820	missense variant	-	NC_000002.12:g.160195495C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg158Trp	rs573373997	missense variant	-	NC_000002.12:g.160195490G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg158Gln	rs747631436	missense variant	-	NC_000002.12:g.160195489C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu159Phe	rs776182333	missense variant	-	NC_000002.12:g.160195487G>A	ExAC,gnomAD
ITGB6	P18564	p.Leu159Arg	rs558188627	missense variant	-	NC_000002.12:g.160195486A>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Lys161Glu	rs747510097	missense variant	-	NC_000002.12:g.160195481T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu162Lys	rs780454470	missense variant	-	NC_000002.12:g.160195478C>T	ExAC,gnomAD
ITGB6	P18564	p.Glu162Asp	rs147372514	missense variant	-	NC_000002.12:g.160195476C>A	ESP,TOPMed,gnomAD
ITGB6	P18564	p.Met163Ile	rs539806416	missense variant	-	NC_000002.12:g.160195473C>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ser164Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160195472A>G	NCI-TCGA
ITGB6	P18564	p.Arg171Lys	rs779037207	missense variant	-	NC_000002.12:g.160195450C>T	ExAC,gnomAD
ITGB6	P18564	p.Arg171Ser	rs377415826	missense variant	-	NC_000002.12:g.160195449T>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu172Pro	COSM4085926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160195447A>G	NCI-TCGA Cosmic
ITGB6	P18564	p.Gly173Ser	rs373088517	missense variant	-	NC_000002.12:g.160195445C>T	ESP,ExAC,gnomAD
ITGB6	P18564	p.Gly173Ala	rs1387477826	missense variant	-	NC_000002.12:g.160195444C>G	gnomAD
ITGB6	P18564	p.Gly175Arg	rs755036686	missense variant	-	NC_000002.12:g.160195439C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser176Tyr	rs369951064	missense variant	-	NC_000002.12:g.160195435G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser176Pro	rs1185357592	missense variant	-	NC_000002.12:g.160195436A>G	gnomAD
ITGB6	P18564	p.Glu179Lys	rs1241333934	missense variant	-	NC_000002.12:g.160195427C>T	gnomAD
ITGB6	P18564	p.Val182Ile	rs142717768	missense variant	-	NC_000002.12:g.160195418C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Phe185Tyr	rs1050990851	missense variant	-	NC_000002.12:g.160195408A>T	gnomAD
ITGB6	P18564	p.Phe185Ser	rs1050990851	missense variant	-	NC_000002.12:g.160195408A>G	gnomAD
ITGB6	P18564	p.Phe185Leu	rs1404113499	missense variant	-	NC_000002.12:g.160195407A>C	TOPMed
ITGB6	P18564	p.Val186Leu	rs375472275	missense variant	-	NC_000002.12:g.160195406C>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val186Leu	rs375472275	missense variant	-	NC_000002.12:g.160195406C>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr188Ile	rs750190939	missense variant	-	NC_000002.12:g.160195399G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr188Lys	rs750190939	missense variant	-	NC_000002.12:g.160195399G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro190Gln	rs755932139	missense variant	-	NC_000002.12:g.160195393G>T	TOPMed,gnomAD
ITGB6	P18564	p.Glu192Val	rs1248844448	missense variant	-	NC_000002.12:g.160195387T>A	gnomAD
ITGB6	P18564	p.Glu192Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160195388C>T	NCI-TCGA
ITGB6	P18564	p.Ala194Thr	rs764843609	missense variant	-	NC_000002.12:g.160195382C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala194Val	rs1277066102	missense variant	-	NC_000002.12:g.160195381G>A	TOPMed
ITGB6	P18564	p.Ala194Ser	rs764843609	missense variant	-	NC_000002.12:g.160195382C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn195Lys	rs1038189073	missense variant	-	NC_000002.12:g.160195377G>T	-
ITGB6	P18564	p.Pro196Ser	rs730880298	missense variant	-	NC_000002.12:g.160195376G>A	ExAC,gnomAD
ITGB6	P18564	p.Pro196Thr	rs730880298	missense variant	-	NC_000002.12:g.160195376G>T	ExAC,gnomAD
ITGB6	P18564	p.Pro196His	rs941116570	missense variant	-	NC_000002.12:g.160195375G>T	gnomAD
ITGB6	P18564	p.Pro196Thr	RCV000157641	missense variant	Amelogenesis imperfecta, type IH (AI1H)	NC_000002.12:g.160195376G>T	ClinVar
ITGB6	P18564	p.Ser198Gly	rs372144143	missense variant	-	NC_000002.12:g.160195370T>C	ESP,ExAC,gnomAD
ITGB6	P18564	p.Ser199Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160174137C>T	NCI-TCGA
ITGB6	P18564	p.Ile200Val	rs946554296	missense variant	-	NC_000002.12:g.160174135T>C	TOPMed,gnomAD
ITGB6	P18564	p.Tyr202His	rs374721403	missense variant	-	NC_000002.12:g.160174129A>G	ESP,TOPMed
ITGB6	P18564	p.Tyr202Phe	rs935729522	missense variant	-	NC_000002.12:g.160174128T>A	TOPMed
ITGB6	P18564	p.Phe203Leu	rs372264340	missense variant	-	NC_000002.12:g.160174124G>C	ESP,ExAC,gnomAD
ITGB6	P18564	p.Leu205Ter	rs1424112088	stop gained	-	NC_000002.12:g.160174119A>T	gnomAD
ITGB6	P18564	p.Pro206Leu	rs1479322018	missense variant	-	NC_000002.12:g.160174116G>A	gnomAD
ITGB6	P18564	p.Pro206Ser	rs772617473	missense variant	-	NC_000002.12:g.160174117G>A	ExAC,gnomAD
ITGB6	P18564	p.Thr207Ile	rs1199690484	missense variant	-	NC_000002.12:g.160174113G>A	gnomAD
ITGB6	P18564	p.Gly209Ter	rs561588576	stop gained	-	NC_000002.12:g.160174108C>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Phe210Leu	rs367990097	missense variant	-	NC_000002.12:g.160174103G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys211Asn	rs1235642411	missense variant	-	NC_000002.12:g.160174100C>G	TOPMed
ITGB6	P18564	p.His212Asn	rs1203036584	missense variant	-	NC_000002.12:g.160174099G>T	gnomAD
ITGB6	P18564	p.Leu214Ser	rs1440017757	missense variant	-	NC_000002.12:g.160174092A>G	gnomAD
ITGB6	P18564	p.Leu216Ser	rs749561988	missense variant	-	NC_000002.12:g.160174086A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr217Ala	rs1321852853	missense variant	-	NC_000002.12:g.160174084T>C	gnomAD
ITGB6	P18564	p.Glu221Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160174072C>T	NCI-TCGA
ITGB6	P18564	p.Arg222Ile	rs944385067	missense variant	-	NC_000002.12:g.160174068C>A	-
ITGB6	P18564	p.Phe223Leu	rs1219980649	missense variant	-	NC_000002.12:g.160174064G>C	gnomAD
ITGB6	P18564	p.Asn224Ser	rs373488084	missense variant	-	NC_000002.12:g.160174062T>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu225Lys	rs912839150	missense variant	-	NC_000002.12:g.160174060C>T	gnomAD
ITGB6	P18564	p.Lys228Asn	rs758180810	missense variant	-	NC_000002.12:g.160174049C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys231Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160174040T>G	NCI-TCGA
ITGB6	P18564	p.Ile232Ser	rs543211346	missense variant	-	NC_000002.12:g.160174038A>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ile232Met	COSM1008248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160174037A>C	NCI-TCGA Cosmic
ITGB6	P18564	p.Ser233Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160174035G>T	NCI-TCGA
ITGB6	P18564	p.Ala234Thr	rs778657225	missense variant	-	NC_000002.12:g.160174033C>T	ExAC
ITGB6	P18564	p.Ala234Val	rs1018582237	missense variant	-	NC_000002.12:g.160174032G>A	TOPMed
ITGB6	P18564	p.Asn235Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160174029T>C	NCI-TCGA
ITGB6	P18564	p.Thr238Arg	rs1176349010	missense variant	-	NC_000002.12:g.160174020G>C	gnomAD
ITGB6	P18564	p.Glu240Lys	rs140624114	missense variant	-	NC_000002.12:g.160174015C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly241Ser	rs755742636	missense variant	-	NC_000002.12:g.160174012C>T	ExAC,gnomAD
ITGB6	P18564	p.Gly242Arg	rs752247019	missense variant	-	NC_000002.12:g.160174009C>T	ExAC,gnomAD
ITGB6	P18564	p.Phe243Cys	rs1239393732	missense variant	-	NC_000002.12:g.160174005A>C	TOPMed,gnomAD
ITGB6	P18564	p.Ala245Thr	rs1203575130	missense variant	-	NC_000002.12:g.160174000C>T	TOPMed,gnomAD
ITGB6	P18564	p.Ile246Val	rs1265317930	missense variant	-	NC_000002.12:g.160173997T>C	gnomAD
ITGB6	P18564	p.Gln248Ter	rs369609347	stop gained	-	NC_000002.12:g.160173991G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala249Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160173987G>A	NCI-TCGA
ITGB6	P18564	p.Ala250Thr	rs1316507140	missense variant	-	NC_000002.12:g.160173985C>T	gnomAD
ITGB6	P18564	p.Val251Met	rs528310931	missense variant	-	NC_000002.12:g.160173982C>T	1000Genomes,gnomAD
ITGB6	P18564	p.Val251Leu	rs528310931	missense variant	-	NC_000002.12:g.160173982C>A	1000Genomes,gnomAD
ITGB6	P18564	p.Lys253Glu	rs1211465275	missense variant	-	NC_000002.12:g.160173976T>C	gnomAD
ITGB6	P18564	p.Glu254Gly	rs541375604	missense variant	-	NC_000002.12:g.160172729T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys255Asn	rs1424429623	missense variant	-	NC_000002.12:g.160172725T>G	TOPMed
ITGB6	P18564	p.Lys255Ile	rs765694627	missense variant	-	NC_000002.12:g.160172726T>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys255Arg	rs765694627	missense variant	-	NC_000002.12:g.160172726T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile256Phe	rs1370745345	missense variant	-	NC_000002.12:g.160172724T>A	gnomAD
ITGB6	P18564	p.Ile256Thr	rs532660177	missense variant	-	NC_000002.12:g.160172723A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile256Asn	rs532660177	missense variant	-	NC_000002.12:g.160172723A>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly257Arg	rs1428351211	missense variant	-	NC_000002.12:g.160172721C>G	gnomAD
ITGB6	P18564	p.Arg259Trp	rs149747755	missense variant	-	NC_000002.12:g.160172715G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg259Gln	rs760839315	missense variant	-	NC_000002.12:g.160172714C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg259Gly	rs149747755	missense variant	-	NC_000002.12:g.160172715G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn260Lys	rs1318143553	missense variant	-	NC_000002.12:g.160172710A>T	TOPMed
ITGB6	P18564	p.Asn260Asp	rs775400949	missense variant	-	NC_000002.12:g.160172712T>C	ExAC
ITGB6	P18564	p.Leu263Phe	rs1268292637	missense variant	-	NC_000002.12:g.160172703G>A	gnomAD
ITGB6	P18564	p.His264Tyr	rs749165480	missense variant	-	NC_000002.12:g.160172700G>A	ExAC,gnomAD
ITGB6	P18564	p.Val267Leu	rs139649173	missense variant	-	NC_000002.12:g.160172691C>G	ESP,ExAC,TOPMed
ITGB6	P18564	p.Val267Gly	rs1489486330	missense variant	-	NC_000002.12:g.160172690A>C	TOPMed,gnomAD
ITGB6	P18564	p.Asp271Glu	rs1305560456	missense variant	-	NC_000002.12:g.160172677A>T	gnomAD
ITGB6	P18564	p.Asp271Gly	rs747875880	missense variant	-	NC_000002.12:g.160172678T>C	ExAC,gnomAD
ITGB6	P18564	p.Asp271Ala	rs747875880	missense variant	-	NC_000002.12:g.160172678T>G	ExAC,gnomAD
ITGB6	P18564	p.Asp271Asn	COSM3568367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160172679C>T	NCI-TCGA Cosmic
ITGB6	P18564	p.Asp273Glu	rs61737770	missense variant	-	NC_000002.12:g.160172671A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser274Cys	rs751132914	missense variant	-	NC_000002.12:g.160172669G>C	ExAC
ITGB6	P18564	p.Ser274Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160172669G>A	NCI-TCGA
ITGB6	P18564	p.His275Gln	rs730882118	missense variant	-	NC_000002.12:g.160172665A>T	-
ITGB6	P18564	p.His275Gln	RCV000157639	missense variant	Amelogenesis imperfecta, type IH (AI1H)	NC_000002.12:g.160172665A>T	ClinVar
ITGB6	P18564	p.Phe276Tyr	rs1336914628	missense variant	-	NC_000002.12:g.160172663A>T	TOPMed
ITGB6	P18564	p.Gly277Arg	rs1218889954	missense variant	-	NC_000002.12:g.160172661C>G	gnomAD
ITGB6	P18564	p.Met278Ile	rs1300871316	missense variant	-	NC_000002.12:g.160172656C>T	gnomAD
ITGB6	P18564	p.Asp279Val	rs1406315767	missense variant	-	NC_000002.12:g.160172654T>A	gnomAD
ITGB6	P18564	p.Asp279Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160172655C>A	NCI-TCGA
ITGB6	P18564	p.Ser280ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.160172651C>-	NCI-TCGA
ITGB6	P18564	p.Lys281Asn	rs1461862005	missense variant	-	NC_000002.12:g.160172647T>A	TOPMed,gnomAD
ITGB6	P18564	p.Leu282Gln	rs1444999650	missense variant	-	NC_000002.12:g.160172645A>T	TOPMed
ITGB6	P18564	p.Leu282Val	rs143852527	missense variant	-	NC_000002.12:g.160172646G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala283Pro	rs762290626	missense variant	-	NC_000002.12:g.160172643C>G	ExAC,gnomAD
ITGB6	P18564	p.Val286Ile	rs576531469	missense variant	-	NC_000002.12:g.160172634C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val286Leu	rs576531469	missense variant	-	NC_000002.12:g.160172634C>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro288Ser	rs775695114	missense variant	-	NC_000002.12:g.160172628G>A	ExAC,gnomAD
ITGB6	P18564	p.Pro288Leu	rs772038274	missense variant	-	NC_000002.12:g.160172627G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn289His	rs561446961	missense variant	-	NC_000002.12:g.160172625T>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp290Glu	rs769665409	missense variant	-	NC_000002.12:g.160172620G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly291Arg	rs144253582	missense variant	-	NC_000002.12:g.160172619C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu295Ser	rs887381626	missense variant	-	NC_000002.12:g.160172606A>G	gnomAD
ITGB6	P18564	p.Leu295Phe	rs1299690741	missense variant	-	NC_000002.12:g.160172605C>A	TOPMed
ITGB6	P18564	p.Asp296Gly	rs188645370	missense variant	-	NC_000002.12:g.160172603T>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Asp296Asn	COSM1008246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160172604C>T	NCI-TCGA Cosmic
ITGB6	P18564	p.Ser297Arg	rs768415795	missense variant	-	NC_000002.12:g.160172599G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn299Ser	rs746639859	missense variant	-	NC_000002.12:g.160172594T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu300Lys	rs779692470	missense variant	-	NC_000002.12:g.160172592C>T	ExAC,gnomAD
ITGB6	P18564	p.Glu300Lys	RCV000201256	missense variant	Adolescent alopeciam dentogingival abnormalitites and intellectual disability	NC_000002.12:g.160172592C>T	ClinVar
ITGB6	P18564	p.Tyr301Phe	rs1310602357	missense variant	-	NC_000002.12:g.160172588T>A	TOPMed
ITGB6	P18564	p.Tyr301His	rs1391345733	missense variant	-	NC_000002.12:g.160172589A>G	gnomAD
ITGB6	P18564	p.Met303Val	rs1395024664	missense variant	-	NC_000002.12:g.160172583T>C	TOPMed,gnomAD
ITGB6	P18564	p.Val306Leu	rs371374688	missense variant	-	NC_000002.12:g.160172574C>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu307Phe	COSM1400386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160172569C>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Glu308Asp	rs757895371	missense variant	-	NC_000002.12:g.160169305T>G	ExAC,gnomAD
ITGB6	P18564	p.Thr311Ala	rs1189419812	missense variant	-	NC_000002.12:g.160169298T>C	gnomAD
ITGB6	P18564	p.Gly313Arg	rs1442752369	missense variant	-	NC_000002.12:g.160169292C>T	gnomAD
ITGB6	P18564	p.Gln314Arg	rs1260682322	missense variant	-	NC_000002.12:g.160169288T>C	gnomAD
ITGB6	P18564	p.Ile316Ser	rs1286063802	missense variant	-	NC_000002.12:g.160169282A>C	gnomAD
ITGB6	P18564	p.Val320Glu	rs753053909	missense variant	-	NC_000002.12:g.160169270A>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val320Ala	rs753053909	missense variant	-	NC_000002.12:g.160169270A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn323Lys	rs138313490	missense variant	-	NC_000002.12:g.160169260G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val324Met	rs751699169	missense variant	-	NC_000002.12:g.160169259C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile327Phe	rs1453707252	missense variant	-	NC_000002.12:g.160169250T>A	TOPMed
ITGB6	P18564	p.Ile327Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160169248G>C	NCI-TCGA
ITGB6	P18564	p.Ile327Ser	rs1287594216	missense variant	-	NC_000002.12:g.160169249A>C	TOPMed
ITGB6	P18564	p.Phe328Ser	rs762957132	missense variant	-	NC_000002.12:g.160169246A>G	ExAC,gnomAD
ITGB6	P18564	p.Ala329Thr	rs764045213	missense variant	-	NC_000002.12:g.160169244C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala329Gly	rs760420082	missense variant	-	NC_000002.12:g.160169243G>C	ExAC
ITGB6	P18564	p.Val330Glu	rs1381679184	missense variant	-	NC_000002.12:g.160169240A>T	TOPMed
ITGB6	P18564	p.Gln332Arg	rs771900116	missense variant	-	NC_000002.12:g.160169234T>C	ExAC,gnomAD
ITGB6	P18564	p.Glu333Gly	rs142185271	missense variant	-	NC_000002.12:g.160169231T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln334Lys	rs774070136	missense variant	-	NC_000002.12:g.160169229G>T	ExAC
ITGB6	P18564	p.His336Asn	rs770567732	missense variant	-	NC_000002.12:g.160169223G>T	ExAC,gnomAD
ITGB6	P18564	p.His336Tyr	rs770567732	missense variant	-	NC_000002.12:g.160169223G>A	ExAC,gnomAD
ITGB6	P18564	p.Tyr338Cys	rs1321753703	missense variant	-	NC_000002.12:g.160169216T>C	TOPMed
ITGB6	P18564	p.Asn340Thr	rs113506485	missense variant	-	NC_000002.12:g.160142070T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn340Ser	rs113506485	missense variant	-	NC_000002.12:g.160142070T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala342Thr	rs140967203	missense variant	-	NC_000002.12:g.160142065C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu344Phe	rs148922939	missense variant	-	NC_000002.12:g.160142059G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu344Val	rs148922939	missense variant	-	NC_000002.12:g.160142059G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala348Val	rs762398057	missense variant	-	NC_000002.12:g.160142046G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val350Ile	rs772743429	missense variant	-	NC_000002.12:g.160142041C>T	ExAC,gnomAD
ITGB6	P18564	p.Leu353His	rs1047205910	missense variant	-	NC_000002.12:g.160142031A>T	TOPMed
ITGB6	P18564	p.Gln354Leu	rs748688893	missense variant	-	NC_000002.12:g.160142028T>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln354Ter	rs770266214	stop gained	-	NC_000002.12:g.160142029G>A	ExAC
ITGB6	P18564	p.Lys355Thr	rs1197184529	missense variant	-	NC_000002.12:g.160142025T>G	gnomAD
ITGB6	P18564	p.Gly358Arg	rs769024553	missense variant	-	NC_000002.12:g.160142017C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu361Pro	rs1374128495	missense variant	-	NC_000002.12:g.160142007A>G	TOPMed
ITGB6	P18564	p.Ile365Val	rs1437007812	missense variant	-	NC_000002.12:g.160141996T>C	TOPMed
ITGB6	P18564	p.Ala367Pro	rs780288634	missense variant	-	NC_000002.12:g.160141990C>G	ExAC,gnomAD
ITGB6	P18564	p.Tyr368Cys	rs1335141872	missense variant	-	NC_000002.12:g.160141986T>C	gnomAD
ITGB6	P18564	p.Glu370Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160138199C>T	NCI-TCGA
ITGB6	P18564	p.Glu370Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.160138199C>A	NCI-TCGA
ITGB6	P18564	p.Arg372Trp	rs747415493	missense variant	-	NC_000002.12:g.160138193G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg372Gln	rs780376574	missense variant	-	NC_000002.12:g.160138192C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser373Phe	rs1475767024	missense variant	-	NC_000002.12:g.160138189G>A	gnomAD
ITGB6	P18564	p.Ser373Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160138189G>C	NCI-TCGA
ITGB6	P18564	p.Glu374Val	rs778933431	missense variant	-	NC_000002.12:g.160138186T>A	ExAC,gnomAD
ITGB6	P18564	p.Glu374Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160138187C>T	NCI-TCGA
ITGB6	P18564	p.Glu374Ter	rs181269473	stop gained	-	NC_000002.12:g.160138187C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val375Met	rs1211021472	missense variant	-	NC_000002.12:g.160138184C>T	gnomAD
ITGB6	P18564	p.Glu376Gln	COSM476097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160138181C>G	NCI-TCGA Cosmic
ITGB6	P18564	p.Glu378Lys	rs757370505	missense variant	-	NC_000002.12:g.160138175C>T	ExAC,gnomAD
ITGB6	P18564	p.Gly381Glu	rs921918641	missense variant	-	NC_000002.12:g.160138165C>T	TOPMed,gnomAD
ITGB6	P18564	p.Thr383Pro	rs1354382788	missense variant	-	NC_000002.12:g.160138160T>G	TOPMed,gnomAD
ITGB6	P18564	p.Thr383Ser	rs1354382788	missense variant	-	NC_000002.12:g.160138160T>A	TOPMed,gnomAD
ITGB6	P18564	p.Gly385Arg	rs753916892	missense variant	-	NC_000002.12:g.160138154C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly385Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160138153C>T	NCI-TCGA
ITGB6	P18564	p.Leu386Phe	rs781307303	missense variant	-	NC_000002.12:g.160138151G>A	ExAC,gnomAD
ITGB6	P18564	p.Asn387Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.160138148_160138149insA	NCI-TCGA
ITGB6	P18564	p.Asn387His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160138148T>G	NCI-TCGA
ITGB6	P18564	p.Leu388Val	rs1303080299	missense variant	-	NC_000002.12:g.160138145A>C	gnomAD
ITGB6	P18564	p.Phe390Leu	rs1358107510	missense variant	-	NC_000002.12:g.160138139A>G	TOPMed,gnomAD
ITGB6	P18564	p.Thr391Ala	rs1201159309	missense variant	-	NC_000002.12:g.160138136T>C	gnomAD
ITGB6	P18564	p.Ala392Thr	rs766195598	missense variant	-	NC_000002.12:g.160138133C>T	ExAC,gnomAD
ITGB6	P18564	p.Ala392Val	rs374723421	missense variant	-	NC_000002.12:g.160138132G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala392Pro	rs766195598	missense variant	-	NC_000002.12:g.160138133C>G	ExAC,gnomAD
ITGB6	P18564	p.Ile393Val	rs750105853	missense variant	-	NC_000002.12:g.160138130T>C	ExAC,gnomAD
ITGB6	P18564	p.Cys394Arg	rs764751218	missense variant	-	NC_000002.12:g.160138127A>G	ExAC,gnomAD
ITGB6	P18564	p.Asn396Asp	rs1422449131	missense variant	-	NC_000002.12:g.160138121T>C	gnomAD
ITGB6	P18564	p.Gly397Ser	rs776089189	missense variant	-	NC_000002.12:g.160138118C>T	ExAC,gnomAD
ITGB6	P18564	p.Thr398Ala	rs764634066	missense variant	-	NC_000002.12:g.160138115T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr398Pro	rs764634066	missense variant	-	NC_000002.12:g.160138115T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu399Val	rs761158424	missense variant	-	NC_000002.12:g.160138112G>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln401Ter	rs1488654094	stop gained	-	NC_000002.12:g.160138106G>A	gnomAD
ITGB6	P18564	p.His402Arg	rs772489907	missense variant	-	NC_000002.12:g.160138102T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His402Gln	rs746158392	missense variant	-	NC_000002.12:g.160138101G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His402Pro	rs772489907	missense variant	-	NC_000002.12:g.160138102T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His402Gln	COSM1325836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160138101G>C	NCI-TCGA Cosmic
ITGB6	P18564	p.Lys404Asn	COSM1211047	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160138095C>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Lys404Asn	COSM441311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160138095C>G	NCI-TCGA Cosmic
ITGB6	P18564	p.Lys405Ile	rs774654149	missense variant	-	NC_000002.12:g.160138093T>A	ExAC,gnomAD
ITGB6	P18564	p.Ser407Tyr	rs147811874	missense variant	-	NC_000002.12:g.160138087G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His408Asn	rs1279696049	missense variant	-	NC_000002.12:g.160138085G>T	gnomAD
ITGB6	P18564	p.Met409Val	rs755020309	missense variant	-	NC_000002.12:g.160138082T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Met409Leu	rs755020309	missense variant	-	NC_000002.12:g.160138082T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys410Glu	rs1340840158	missense variant	-	NC_000002.12:g.160138079T>C	gnomAD
ITGB6	P18564	p.Asp413Asn	rs746951303	missense variant	-	NC_000002.12:g.160138070C>T	ExAC
ITGB6	P18564	p.Thr414Pro	rs1206326219	missense variant	-	NC_000002.12:g.160138067T>G	TOPMed
ITGB6	P18564	p.Thr414Arg	rs779801184	missense variant	-	NC_000002.12:g.160138066G>C	ExAC,gnomAD
ITGB6	P18564	p.Ala415Ser	rs756971112	missense variant	-	NC_000002.12:g.160137851C>A	ExAC,gnomAD
ITGB6	P18564	p.Phe417Cys	rs1312246698	missense variant	-	NC_000002.12:g.160137844A>C	gnomAD
ITGB6	P18564	p.Ser418Arg	rs144315908	missense variant	-	NC_000002.12:g.160137840G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val419Leu	rs755642266	missense variant	-	NC_000002.12:g.160137839C>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val419Met	rs755642266	missense variant	-	NC_000002.12:g.160137839C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val421Leu	rs1333730175	missense variant	-	NC_000002.12:g.160137833C>G	gnomAD
ITGB6	P18564	p.Asn422Asp	rs201585236	missense variant	-	NC_000002.12:g.160137830T>C	ExAC,gnomAD
ITGB6	P18564	p.Pro424Leu	rs1401813627	missense variant	-	NC_000002.12:g.160137823G>A	TOPMed,gnomAD
ITGB6	P18564	p.His425Arg	rs1460296616	missense variant	-	NC_000002.12:g.160137820T>C	TOPMed
ITGB6	P18564	p.Glu427Lys	rs763356279	missense variant	-	NC_000002.12:g.160137815C>T	ExAC,gnomAD
ITGB6	P18564	p.Glu427Gln	rs763356279	missense variant	-	NC_000002.12:g.160137815C>G	ExAC,gnomAD
ITGB6	P18564	p.Arg428Lys	rs950615749	missense variant	-	NC_000002.12:g.160137811C>T	TOPMed,gnomAD
ITGB6	P18564	p.Ser430Arg	rs1157575873	missense variant	-	NC_000002.12:g.160137804G>T	TOPMed
ITGB6	P18564	p.Arg431Ser	rs773594504	missense variant	-	NC_000002.12:g.160137801C>A	ExAC,gnomAD
ITGB6	P18564	p.His432Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160137800G>A	NCI-TCGA
ITGB6	P18564	p.Ile433Met	rs61748239	missense variant	-	NC_000002.12:g.160137795A>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile433Thr	rs761994942	missense variant	-	NC_000002.12:g.160137796A>G	ExAC,gnomAD
ITGB6	P18564	p.Ile433Val	rs770103682	missense variant	-	NC_000002.12:g.160137797T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile434Val	rs745790038	missense variant	-	NC_000002.12:g.160137794T>C	ExAC,gnomAD
ITGB6	P18564	p.Ile434Leu	rs745790038	missense variant	-	NC_000002.12:g.160137794T>G	ExAC,gnomAD
ITGB6	P18564	p.Pro437Thr	rs2305820	missense variant	-	NC_000002.12:g.160137785G>T	UniProt,dbSNP
ITGB6	P18564	p.Pro437Thr	VAR_049636	missense variant	-	NC_000002.12:g.160137785G>T	UniProt
ITGB6	P18564	p.Pro437Thr	rs2305820	missense variant	-	NC_000002.12:g.160137785G>T	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Val438Met	rs61737764	missense variant	-	NC_000002.12:g.160137782C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val438AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.160137739_160137781CATTCTGGGCTGACAAGTAATTCCAGGGCATCCCCCAGCCCCA>-	NCI-TCGA
ITGB6	P18564	p.Gly439Glu	rs557230094	missense variant	-	NC_000002.12:g.160137778C>T	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Leu440Gln	rs1405236795	missense variant	-	NC_000002.12:g.160137775A>T	TOPMed
ITGB6	P18564	p.Gly441TrpPheSerTerUnkUnk	COSM1400385	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.160137773_160137774insA	NCI-TCGA Cosmic
ITGB6	P18564	p.Gly441Ala	rs1338460810	missense variant	-	NC_000002.12:g.160137772C>G	TOPMed
ITGB6	P18564	p.Asp442Asn	rs755729961	missense variant	-	NC_000002.12:g.160137770C>T	ExAC,gnomAD
ITGB6	P18564	p.Ala443Asp	rs752297911	missense variant	-	NC_000002.12:g.160137766G>T	ExAC,gnomAD
ITGB6	P18564	p.Ala443Thr	rs1332447279	missense variant	-	NC_000002.12:g.160137767C>T	gnomAD
ITGB6	P18564	p.Leu446Phe	rs1340786035	missense variant	-	NC_000002.12:g.160137756T>A	TOPMed
ITGB6	P18564	p.Val448Ala	rs780549686	missense variant	-	NC_000002.12:g.160137751A>G	ExAC,gnomAD
ITGB6	P18564	p.Glu451Gly	rs755571854	missense variant	-	NC_000002.12:g.160137742T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu451Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.160137743C>A	NCI-TCGA
ITGB6	P18564	p.Cys452Arg	rs1382170524	missense variant	-	NC_000002.12:g.160137740A>G	TOPMed,gnomAD
ITGB6	P18564	p.Asn453Lys	rs1159163609	missense variant	-	NC_000002.12:g.160137735G>T	gnomAD
ITGB6	P18564	p.Asp455Asn	rs201552904	missense variant	-	NC_000002.12:g.160137731C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp455Tyr	rs201552904	missense variant	-	NC_000002.12:g.160137731C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys456Phe	rs765605951	missense variant	-	NC_000002.12:g.160137727C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys456Tyr	rs765605951	missense variant	-	NC_000002.12:g.160137727C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln457Arg	rs1261992701	missense variant	-	NC_000002.12:g.160137724T>C	gnomAD
ITGB6	P18564	p.Gln457Ter	rs200295975	stop gained	-	NC_000002.12:g.160137725G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu459Ter	COSM1400384	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.160137719C>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Val460Leu	rs768624598	missense variant	-	NC_000002.12:g.160137716C>G	ExAC,gnomAD
ITGB6	P18564	p.Val460Leu	rs768624598	missense variant	-	NC_000002.12:g.160137716C>A	ExAC,gnomAD
ITGB6	P18564	p.Glu461Gln	rs760749196	missense variant	-	NC_000002.12:g.160137713C>G	ExAC,gnomAD
ITGB6	P18564	p.Asn463Tyr	rs1437561442	missense variant	-	NC_000002.12:g.160137707T>A	TOPMed
ITGB6	P18564	p.Ser464Ile	rs770815372	missense variant	-	NC_000002.12:g.160137703C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser465Thr	rs1282738944	missense variant	-	NC_000002.12:g.160137701A>T	gnomAD
ITGB6	P18564	p.Lys466Glu	rs1030364807	missense variant	-	NC_000002.12:g.160137698T>C	TOPMed
ITGB6	P18564	p.Lys466Asn	rs749120125	missense variant	-	NC_000002.12:g.160137696T>A	ExAC,gnomAD
ITGB6	P18564	p.Cys467Phe	rs996563498	missense variant	-	NC_000002.12:g.160137694C>A	TOPMed
ITGB6	P18564	p.His468Leu	rs1277804797	missense variant	-	NC_000002.12:g.160137691T>A	gnomAD
ITGB6	P18564	p.His468Tyr	rs1356386845	missense variant	-	NC_000002.12:g.160137692G>A	gnomAD
ITGB6	P18564	p.His469Asn	rs142197545	missense variant	-	NC_000002.12:g.160137689G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly470Arg	rs55841905	missense variant	-	NC_000002.12:g.160137686C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly470Val	rs148881693	missense variant	-	NC_000002.12:g.160137685C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn471Ser	rs746489935	missense variant	-	NC_000002.12:g.160137682T>C	ExAC,gnomAD
ITGB6	P18564	p.Gly472Asp	rs750875825	missense variant	-	NC_000002.12:g.160137679C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly472Ser	rs758952593	missense variant	-	NC_000002.12:g.160137680C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly472Ala	rs750875825	missense variant	-	NC_000002.12:g.160137679C>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly472Cys	rs758952593	missense variant	-	NC_000002.12:g.160137680C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser473Phe	rs765694694	missense variant	-	NC_000002.12:g.160137676G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln475Arg	rs373568907	missense variant	-	NC_000002.12:g.160137670T>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys476Arg	rs1194548328	missense variant	-	NC_000002.12:g.160137668A>G	gnomAD
ITGB6	P18564	p.Gly477Val	rs570810791	missense variant	-	NC_000002.12:g.160137664C>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Gly477Ala	rs570810791	missense variant	-	NC_000002.12:g.160137664C>G	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Cys479Arg	rs1335898880	missense variant	-	NC_000002.12:g.160137659A>G	gnomAD
ITGB6	P18564	p.Ala480Ser	rs760699404	missense variant	-	NC_000002.12:g.160137656C>A	ExAC,gnomAD
ITGB6	P18564	p.Ala480Val	rs775516477	missense variant	-	NC_000002.12:g.160137655G>A	ExAC,gnomAD
ITGB6	P18564	p.Ala480LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.160137656_160137657CA>-	NCI-TCGA
ITGB6	P18564	p.Cys481Tyr	rs1225916314	missense variant	-	NC_000002.12:g.160137652C>T	TOPMed
ITGB6	P18564	p.His482Gln	rs762861083	missense variant	-	NC_000002.12:g.160137648G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His482Asn	rs766349364	missense variant	-	NC_000002.12:g.160137650G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly484Asp	rs1194415476	missense variant	-	NC_000002.12:g.160137643C>T	TOPMed
ITGB6	P18564	p.His485Gln	rs1329310318	missense variant	-	NC_000002.12:g.160137639G>T	gnomAD
ITGB6	P18564	p.Met486Val	rs147011033	missense variant	-	NC_000002.12:g.160137638T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly487Glu	rs193920975	missense variant	-	NC_000002.12:g.160137634C>T	gnomAD
ITGB6	P18564	p.Gly487Arg	rs769477320	missense variant	-	NC_000002.12:g.160137635C>T	ExAC,gnomAD
ITGB6	P18564	p.Gly487Val	rs193920975	missense variant	-	NC_000002.12:g.160137634C>A	gnomAD
ITGB6	P18564	p.Gly487Trp	rs769477320	missense variant	-	NC_000002.12:g.160137635C>A	ExAC,gnomAD
ITGB6	P18564	p.Gly487Glu	RCV000149009	missense variant	Malignant tumor of prostate	NC_000002.12:g.160137634C>T	ClinVar
ITGB6	P18564	p.Pro488Thr	rs147828856	missense variant	-	NC_000002.12:g.160137632G>T	ESP,ExAC
ITGB6	P18564	p.Arg489His	rs369831997	missense variant	-	NC_000002.12:g.160137628C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg489Leu	rs369831997	missense variant	-	NC_000002.12:g.160137628C>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg489Cys	rs776181453	missense variant	-	NC_000002.12:g.160137629G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu494Gln	rs374801905	missense variant	-	NC_000002.12:g.160137614C>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu494Lys	rs374801905	missense variant	-	NC_000002.12:g.160137614C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu494Ala	rs1201576711	missense variant	-	NC_000002.12:g.160137613T>G	gnomAD
ITGB6	P18564	p.Met496Leu	rs1237908560	missense variant	-	NC_000002.12:g.160137608T>G	gnomAD
ITGB6	P18564	p.Leu497Met	rs1461342856	missense variant	-	NC_000002.12:g.160137605G>T	TOPMed
ITGB6	P18564	p.Leu497Pro	COSM1400382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160137604A>G	NCI-TCGA Cosmic
ITGB6	P18564	p.Ser498Arg	rs1320329851	missense variant	-	NC_000002.12:g.160137600G>T	gnomAD
ITGB6	P18564	p.Ser498Asn	rs372571486	missense variant	-	NC_000002.12:g.160137601C>T	ESP,ExAC,gnomAD
ITGB6	P18564	p.Thr499Ala	rs562815517	missense variant	-	NC_000002.12:g.160137599T>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ser501Tyr	rs1218788898	missense variant	-	NC_000002.12:g.160137592G>T	gnomAD
ITGB6	P18564	p.Glu504Asp	rs756336739	missense variant	-	NC_000002.12:g.160137582C>A	ExAC
ITGB6	P18564	p.Ala505Thr	rs909210743	missense variant	-	NC_000002.12:g.160137581C>T	gnomAD
ITGB6	P18564	p.Pro506Leu	rs752829523	missense variant	-	NC_000002.12:g.160137577G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro506Ala	rs983417389	missense variant	-	NC_000002.12:g.160137578G>C	gnomAD
ITGB6	P18564	p.Pro506Gln	rs752829523	missense variant	-	NC_000002.12:g.160137577G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp507His	rs1329111126	missense variant	-	NC_000002.12:g.160137575C>G	gnomAD
ITGB6	P18564	p.His508Asn	rs917818547	missense variant	-	NC_000002.12:g.160137572G>T	TOPMed,gnomAD
ITGB6	P18564	p.His508Arg	rs1302648317	missense variant	-	NC_000002.12:g.160137571T>C	TOPMed
ITGB6	P18564	p.Pro509His	rs767576153	missense variant	-	NC_000002.12:g.160137568G>T	ExAC,gnomAD
ITGB6	P18564	p.Pro509Arg	rs767576153	missense variant	-	NC_000002.12:g.160137568G>C	ExAC,gnomAD
ITGB6	P18564	p.Ser510Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160137565G>A	NCI-TCGA
ITGB6	P18564	p.Ser512Asn	rs1326345622	missense variant	-	NC_000002.12:g.160137559C>T	TOPMed
ITGB6	P18564	p.Ser512Arg	rs759543622	missense variant	-	NC_000002.12:g.160137558G>T	ExAC,gnomAD
ITGB6	P18564	p.Gly513Glu	rs978656099	missense variant	-	NC_000002.12:g.160137556C>T	TOPMed
ITGB6	P18564	p.Gly513Arg	rs199564092	missense variant	-	NC_000002.12:g.160137557C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg514Ser	rs1176108647	missense variant	-	NC_000002.12:g.160137552C>A	TOPMed,gnomAD
ITGB6	P18564	p.Arg514Lys	rs765183944	missense variant	-	NC_000002.12:g.160137553C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly515Cys	rs1455046465	missense variant	-	NC_000002.12:g.160137551C>A	gnomAD
ITGB6	P18564	p.Gly515Val	rs1290541705	missense variant	-	NC_000002.12:g.160137550C>A	TOPMed
ITGB6	P18564	p.Asp516Asn	rs1489665110	missense variant	-	NC_000002.12:g.160137548C>T	TOPMed
ITGB6	P18564	p.Gly520Val	rs768254862	missense variant	-	NC_000002.12:g.160137535C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln521Lys	rs746655063	missense variant	-	NC_000002.12:g.160137533G>T	ExAC,gnomAD
ITGB6	P18564	p.Gln521Glu	rs746655063	missense variant	-	NC_000002.12:g.160137533G>C	ExAC,gnomAD
ITGB6	P18564	p.Cys522Gly	rs775217432	missense variant	-	NC_000002.12:g.160137530A>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile523Met	rs745321994	missense variant	-	NC_000002.12:g.160137525G>C	ExAC,gnomAD
ITGB6	P18564	p.Ile523Val	COSM71215	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160137527T>C	NCI-TCGA Cosmic
ITGB6	P18564	p.Cys524Arg	rs1280767330	missense variant	-	NC_000002.12:g.160137524A>G	gnomAD
ITGB6	P18564	p.Leu526Trp	rs184765465	missense variant	-	NC_000002.12:g.160137517A>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu526Ser	rs184765465	missense variant	-	NC_000002.12:g.160137517A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Tyr529Cys	rs749662298	missense variant	-	NC_000002.12:g.160137508T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile532Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160137498A>C	NCI-TCGA
ITGB6	P18564	p.Ile532Thr	rs376026402	missense variant	-	NC_000002.12:g.160137499A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly534Glu	rs1373720934	missense variant	-	NC_000002.12:g.160137493C>T	TOPMed,gnomAD
ITGB6	P18564	p.Gly534Arg	rs1242129602	missense variant	-	NC_000002.12:g.160137494C>T	gnomAD
ITGB6	P18564	p.Pro535Leu	rs979172663	missense variant	-	NC_000002.12:g.160137490G>A	gnomAD
ITGB6	P18564	p.Tyr536His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160137488A>G	NCI-TCGA
ITGB6	P18564	p.Gln538His	rs1383537674	missense variant	-	NC_000002.12:g.160137480C>A	gnomAD
ITGB6	P18564	p.Gln538Arg	rs756353631	missense variant	-	NC_000002.12:g.160137481T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys539Arg	rs781330759	missense variant	-	NC_000002.12:g.160137479A>G	ExAC,gnomAD
ITGB6	P18564	p.Cys539Ser	rs781330759	missense variant	-	NC_000002.12:g.160137479A>T	ExAC,gnomAD
ITGB6	P18564	p.Asp540Glu	rs755084704	missense variant	-	NC_000002.12:g.160137474G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn541Asp	rs1418523966	missense variant	-	NC_000002.12:g.160137473T>C	gnomAD
ITGB6	P18564	p.Asn541His	rs1418523966	missense variant	-	NC_000002.12:g.160137473T>G	gnomAD
ITGB6	P18564	p.Phe542Ser	rs1459564158	missense variant	-	NC_000002.12:g.160137469A>G	TOPMed
ITGB6	P18564	p.Ser543Tyr	rs765140343	missense variant	-	NC_000002.12:g.160137466G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val545Met	rs144967638	missense variant	-	NC_000002.12:g.160137461C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val545Gly	rs763955136	missense variant	-	NC_000002.12:g.160137460A>C	ExAC,gnomAD
ITGB6	P18564	p.His547Asn	rs760491071	missense variant	-	NC_000002.12:g.160137455G>T	ExAC,gnomAD
ITGB6	P18564	p.His547Gln	rs1319454224	missense variant	-	NC_000002.12:g.160137453G>T	TOPMed,gnomAD
ITGB6	P18564	p.Lys548Glu	rs1313996466	missense variant	-	NC_000002.12:g.160137452T>C	TOPMed
ITGB6	P18564	p.Gly549Arg	rs1239402477	missense variant	-	NC_000002.12:g.160137449C>T	TOPMed,gnomAD
ITGB6	P18564	p.Leu550Arg	rs775305706	missense variant	-	NC_000002.12:g.160137445A>C	ExAC,gnomAD
ITGB6	P18564	p.Leu551Phe	rs144680666	missense variant	-	NC_000002.12:g.160137443G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys552Ter	rs139038668	stop gained	-	NC_000002.12:g.160137438G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys552Trp	rs139038668	missense variant	-	NC_000002.12:g.160137438G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly553Arg	rs188076755	missense variant	-	NC_000002.12:g.160137437C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly553Ter	rs188076755	stop gained	-	NC_000002.12:g.160137437C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly554Ser	rs1226374205	missense variant	-	NC_000002.12:g.160137434C>T	gnomAD
ITGB6	P18564	p.Gly554Asp	rs546972685	missense variant	-	NC_000002.12:g.160126601C>T	1000Genomes,TOPMed,gnomAD
ITGB6	P18564	p.Gly556Cys	rs748564787	missense variant	-	NC_000002.12:g.160126596C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly556Ser	rs748564787	missense variant	-	NC_000002.12:g.160126596C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp557Asn	rs143914557	missense variant	-	NC_000002.12:g.160126593C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp557Tyr	rs143914557	missense variant	-	NC_000002.12:g.160126593C>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys558Gly	rs1201520091	missense variant	-	NC_000002.12:g.160126590A>C	TOPMed
ITGB6	P18564	p.Gly561Ala	rs1477208637	missense variant	-	NC_000002.12:g.160126580C>G	TOPMed
ITGB6	P18564	p.Cys563Phe	rs1253352527	missense variant	-	NC_000002.12:g.160126574C>A	gnomAD
ITGB6	P18564	p.Val564Glu	rs1197756453	missense variant	-	NC_000002.12:g.160126571A>T	TOPMed,gnomAD
ITGB6	P18564	p.Cys565Arg	rs780082370	missense variant	-	NC_000002.12:g.160126569A>G	ExAC,gnomAD
ITGB6	P18564	p.Cys565Tyr	rs758528594	missense variant	-	NC_000002.12:g.160126568C>T	ExAC,gnomAD
ITGB6	P18564	p.Arg566Ser	rs745898382	missense variant	-	NC_000002.12:g.160126564C>A	ExAC,gnomAD
ITGB6	P18564	p.Ser567Asn	rs1385559013	missense variant	-	NC_000002.12:g.160126562C>T	TOPMed,gnomAD
ITGB6	P18564	p.Ser567Arg	rs756097127	missense variant	-	NC_000002.12:g.160126561G>T	ExAC,gnomAD
ITGB6	P18564	p.Ser567Cys	rs777895050	missense variant	-	NC_000002.12:g.160126563T>A	ExAC,gnomAD
ITGB6	P18564	p.Gly568Ser	rs752597141	missense variant	-	NC_000002.12:g.160126560C>T	ExAC,gnomAD
ITGB6	P18564	p.Trp569Arg	rs1446463021	missense variant	-	NC_000002.12:g.160126557A>G	gnomAD
ITGB6	P18564	p.Thr570Ala	rs767415409	missense variant	-	NC_000002.12:g.160126554T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly571Asp	rs754659009	missense variant	-	NC_000002.12:g.160126550C>T	ExAC,gnomAD
ITGB6	P18564	p.Glu572Lys	rs144758639	missense variant	-	NC_000002.12:g.160126548C>T	ESP,ExAC,gnomAD
ITGB6	P18564	p.Tyr573Ter	rs1173904734	stop gained	-	NC_000002.12:g.160126543G>C	gnomAD
ITGB6	P18564	p.Cys574Ter	rs888701114	stop gained	-	NC_000002.12:g.160126540G>T	TOPMed
ITGB6	P18564	p.Cys574Arg	rs772576883	missense variant	-	NC_000002.12:g.160126542A>G	ExAC,gnomAD
ITGB6	P18564	p.Asn575Lys	rs1395579738	missense variant	-	NC_000002.12:g.160126537G>T	gnomAD
ITGB6	P18564	p.Cys576Phe	COSM3837150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160126535C>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Thr577Asn	rs762307594	missense variant	-	NC_000002.12:g.160126532G>T	ExAC,gnomAD
ITGB6	P18564	p.Thr578Asn	rs777059897	missense variant	-	NC_000002.12:g.160126529G>T	ExAC,gnomAD
ITGB6	P18564	p.Ser579Gly	rs1398209178	missense variant	-	NC_000002.12:g.160126527T>C	TOPMed
ITGB6	P18564	p.Thr580Lys	rs769022285	missense variant	-	NC_000002.12:g.160126523G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp581Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160126521C>T	NCI-TCGA
ITGB6	P18564	p.Ser582Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160126517G>C	NCI-TCGA
ITGB6	P18564	p.Cys583Trp	rs772152565	missense variant	-	NC_000002.12:g.160126513G>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val584Ile	rs770284828	missense variant	-	NC_000002.12:g.160126512C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser585Phe	rs756187131	missense variant	-	NC_000002.12:g.160126508G>A	ExAC,gnomAD
ITGB6	P18564	p.Ser585Pro	COSM1008244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160126509A>G	NCI-TCGA Cosmic
ITGB6	P18564	p.Glu586Lys	COSM6154604	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160126506C>T	NCI-TCGA Cosmic
ITGB6	P18564	p.Val589Met	rs1292368259	missense variant	-	NC_000002.12:g.160126497C>T	TOPMed
ITGB6	P18564	p.Cys591Tyr	rs1487949347	missense variant	-	NC_000002.12:g.160126490C>T	TOPMed
ITGB6	P18564	p.Cys591Gly	rs781213934	missense variant	-	NC_000002.12:g.160126491A>C	ExAC
ITGB6	P18564	p.Ser592Arg	rs751270189	missense variant	-	NC_000002.12:g.160126486G>T	ExAC,gnomAD
ITGB6	P18564	p.Gly593Arg	rs200492977	missense variant	-	NC_000002.12:g.160126485C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg594His	rs757977525	missense variant	-	NC_000002.12:g.160126481C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg594Cys	rs1433404920	missense variant	-	NC_000002.12:g.160126482G>A	TOPMed,gnomAD
ITGB6	P18564	p.Gly595Arg	rs764735670	missense variant	-	NC_000002.12:g.160126479C>T	ExAC,gnomAD
ITGB6	P18564	p.Asp596Tyr	rs1376058943	missense variant	-	NC_000002.12:g.160126476C>A	gnomAD
ITGB6	P18564	p.Cys597Arg	rs1437600372	missense variant	-	NC_000002.12:g.160126473A>G	gnomAD
ITGB6	P18564	p.Gly600Asp	rs777145845	missense variant	-	NC_000002.12:g.160126463C>T	ExAC,gnomAD
ITGB6	P18564	p.Cys602Ser	rs764546149	missense variant	-	NC_000002.12:g.160126458A>T	ExAC,gnomAD
ITGB6	P18564	p.Cys604Gly	rs761142877	missense variant	-	NC_000002.12:g.160126452A>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys604Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160126451C>T	NCI-TCGA
ITGB6	P18564	p.Thr605Pro	rs1212478399	missense variant	-	NC_000002.12:g.160126449T>G	gnomAD
ITGB6	P18564	p.Thr605Ile	rs543986673	missense variant	-	NC_000002.12:g.160126448G>A	1000Genomes,gnomAD
ITGB6	P18564	p.Pro607LeuPheSerTerUnkUnk	COSM5139725	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.160126442G>-	NCI-TCGA Cosmic
ITGB6	P18564	p.Thr613Pro	rs775693403	missense variant	-	NC_000002.12:g.160126425T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr613Ala	rs775693403	missense variant	-	NC_000002.12:g.160126425T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg616Ter	rs730880297	stop gained	-	NC_000002.12:g.160126416G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg616Pro	rs144493660	missense variant	-	NC_000002.12:g.160126415C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg616Ter	RCV000157640	nonsense	Amelogenesis imperfecta, type IH (AI1H)	NC_000002.12:g.160126416G>A	ClinVar
ITGB6	P18564	p.Cys617Phe	rs771143977	missense variant	-	NC_000002.12:g.160126412C>A	ExAC,gnomAD
ITGB6	P18564	p.Cys617Gly	rs1188139931	missense variant	-	NC_000002.12:g.160126413A>C	TOPMed,gnomAD
ITGB6	P18564	p.Cys617Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.160126411A>T	NCI-TCGA
ITGB6	P18564	p.Thr619Ile	rs749328795	missense variant	-	NC_000002.12:g.160126406G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr619Ala	rs1385780826	missense variant	-	NC_000002.12:g.160126407T>C	TOPMed
ITGB6	P18564	p.Asp622Asn	rs1310842796	missense variant	-	NC_000002.12:g.160126398C>T	TOPMed
ITGB6	P18564	p.Asp622Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160126398C>A	NCI-TCGA
ITGB6	P18564	p.Pro623His	rs768444834	missense variant	-	NC_000002.12:g.160126394G>T	ExAC,gnomAD
ITGB6	P18564	p.Cys624Ter	rs746882289	stop gained	-	NC_000002.12:g.160126390A>T	ExAC,gnomAD
ITGB6	P18564	p.Arg628Gln	rs1261784033	missense variant	-	NC_000002.12:g.160126379C>T	TOPMed,gnomAD
ITGB6	P18564	p.Arg628Gly	rs202195621	missense variant	-	NC_000002.12:g.160126380G>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg628Trp	rs202195621	missense variant	-	NC_000002.12:g.160126380G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg628Pro	rs1261784033	missense variant	-	NC_000002.12:g.160126379C>G	TOPMed,gnomAD
ITGB6	P18564	p.Ser629Gly	rs574352340	missense variant	-	NC_000002.12:g.160123887T>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ser629Asn	rs997117450	missense variant	-	NC_000002.12:g.160123886C>T	gnomAD
ITGB6	P18564	p.Ile631Thr	rs370714170	missense variant	-	NC_000002.12:g.160123880A>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu632Val	rs1321188375	missense variant	-	NC_000002.12:g.160123877T>A	gnomAD
ITGB6	P18564	p.His634Arg	rs150163379	missense variant	-	NC_000002.12:g.160123871T>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His634Tyr	rs142919023	missense variant	-	NC_000002.12:g.160123872G>A	ESP,ExAC,gnomAD
ITGB6	P18564	p.Leu635Pro	rs771235788	missense variant	-	NC_000002.12:g.160123868A>G	ExAC,gnomAD
ITGB6	P18564	p.Ala637Val	rs376329044	missense variant	-	NC_000002.12:g.160123862G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly639Asp	rs552791527	missense variant	-	NC_000002.12:g.160123856C>T	1000Genomes
ITGB6	P18564	p.Gly639Ser	rs773414491	missense variant	-	NC_000002.12:g.160123857C>T	ExAC,gnomAD
ITGB6	P18564	p.Gln640Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160123854G>C	NCI-TCGA
ITGB6	P18564	p.Arg642Ter	rs61737767	stop gained	-	NC_000002.12:g.160123848G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg642Gln	rs200145370	missense variant	-	NC_000002.12:g.160123847C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu644Ter	COSM282009	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.160123842C>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Cys645Arg	rs745623919	missense variant	-	NC_000002.12:g.160123839A>G	ExAC,gnomAD
ITGB6	P18564	p.Cys645Tyr	rs1441324615	missense variant	-	NC_000002.12:g.160123838C>T	gnomAD
ITGB6	P18564	p.Val646Met	rs778578823	missense variant	-	NC_000002.12:g.160123836C>T	ExAC,gnomAD
ITGB6	P18564	p.Asp647Gly	rs920657730	missense variant	-	NC_000002.12:g.160123832T>C	TOPMed,gnomAD
ITGB6	P18564	p.Lys648Asn	rs775754627	missense variant	-	NC_000002.12:g.160123828C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys648Gln	rs1411158973	missense variant	-	NC_000002.12:g.160123830T>G	TOPMed,gnomAD
ITGB6	P18564	p.Cys649Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160123826C>T	NCI-TCGA
ITGB6	P18564	p.Leu651Pro	rs753402565	missense variant	-	NC_000002.12:g.160123820A>G	ExAC,gnomAD
ITGB6	P18564	p.Ala652Val	rs887228629	missense variant	-	NC_000002.12:g.160123817G>A	gnomAD
ITGB6	P18564	p.Ala654Val	rs150971153	missense variant	-	NC_000002.12:g.160123811G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala654Gly	rs150971153	missense variant	-	NC_000002.12:g.160123811G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr655Asn	rs768015188	missense variant	-	NC_000002.12:g.160123808G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr655Ala	rs1469181840	missense variant	-	NC_000002.12:g.160123809T>C	gnomAD
ITGB6	P18564	p.Ser657Ile	rs755421198	missense variant	-	NC_000002.12:g.160123802C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu659Lys	rs751938984	missense variant	-	NC_000002.12:g.160123797C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu660Lys	rs1199919769	missense variant	-	NC_000002.12:g.160123794C>T	gnomAD
ITGB6	P18564	p.Asp661Val	rs1295424870	missense variant	-	NC_000002.12:g.160112199T>A	TOPMed
ITGB6	P18564	p.Phe662Ser	rs1315401429	missense variant	-	NC_000002.12:g.160112196A>G	gnomAD
ITGB6	P18564	p.Lys664Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160112189C>A	NCI-TCGA
ITGB6	P18564	p.Asp665Gly	rs1435834258	missense variant	-	NC_000002.12:g.160112187T>C	gnomAD
ITGB6	P18564	p.Gly666Asp	rs750633028	missense variant	-	NC_000002.12:g.160112184C>T	ExAC,gnomAD
ITGB6	P18564	p.Gly666Val	rs750633028	missense variant	-	NC_000002.12:g.160112184C>A	ExAC,gnomAD
ITGB6	P18564	p.Val668Ile	rs376470109	missense variant	-	NC_000002.12:g.160112179C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser669Pro	rs761842374	missense variant	-	NC_000002.12:g.160112176A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser669Thr	rs761842374	missense variant	-	NC_000002.12:g.160112176A>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys670Ter	rs776752490	stop gained	-	NC_000002.12:g.160112171G>T	ExAC,gnomAD
ITGB6	P18564	p.Ser671Phe	rs1474284689	missense variant	-	NC_000002.12:g.160112169G>A	gnomAD
ITGB6	P18564	p.Leu672Pro	rs1481294410	missense variant	-	NC_000002.12:g.160112166A>G	gnomAD
ITGB6	P18564	p.Leu672Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160112167G>C	NCI-TCGA
ITGB6	P18564	p.Gln673Lys	rs1188718105	missense variant	-	NC_000002.12:g.160112164G>T	gnomAD
ITGB6	P18564	p.Gly674Arg	rs200660753	missense variant	-	NC_000002.12:g.160112161C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly674Glu	rs964592128	missense variant	-	NC_000002.12:g.160112160C>T	TOPMed,gnomAD
ITGB6	P18564	p.Glu677Ter	COSM1008242	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.160112152C>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Cys678Arg	rs1217745574	missense variant	-	NC_000002.12:g.160112149A>G	gnomAD
ITGB6	P18564	p.Leu679Val	rs774204391	missense variant	-	NC_000002.12:g.160112146G>C	ExAC,gnomAD
ITGB6	P18564	p.Phe682Leu	rs1191570106	missense variant	-	NC_000002.12:g.160112135G>T	TOPMed
ITGB6	P18564	p.Leu683Pro	rs749058952	missense variant	-	NC_000002.12:g.160112133A>G	ExAC,gnomAD
ITGB6	P18564	p.Thr685Ile	rs772770914	missense variant	-	NC_000002.12:g.160112127G>A	ExAC,gnomAD
ITGB6	P18564	p.Thr686Lys	rs1398818207	missense variant	-	NC_000002.12:g.160112124G>T	gnomAD
ITGB6	P18564	p.Asp687Tyr	rs747659835	missense variant	-	NC_000002.12:g.160112122C>A	ExAC,gnomAD
ITGB6	P18564	p.Asn688Ser	rs1260897929	missense variant	-	NC_000002.12:g.160112118T>C	TOPMed
ITGB6	P18564	p.Glu689Gln	rs1190490436	missense variant	-	NC_000002.12:g.160112116C>G	TOPMed
ITGB6	P18564	p.Glu689Asp	rs1164506403	missense variant	-	NC_000002.12:g.160112114C>A	gnomAD
ITGB6	P18564	p.Gly690Glu	rs754473547	missense variant	-	NC_000002.12:g.160112112C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly690Arg	rs1460115362	missense variant	-	NC_000002.12:g.160112113C>T	gnomAD
ITGB6	P18564	p.Lys691Glu	rs1165829377	missense variant	-	NC_000002.12:g.160112110T>C	gnomAD
ITGB6	P18564	p.Lys691Asn	COSM1564737	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160112108T>A	NCI-TCGA Cosmic
ITGB6	P18564	p.Ile693Val	rs1427977643	missense variant	-	NC_000002.12:g.160112104T>C	gnomAD
ITGB6	P18564	p.Ile694Phe	rs139804091	missense variant	-	NC_000002.12:g.160112101T>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile694Leu	rs139804091	missense variant	-	NC_000002.12:g.160112101T>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile694Val	rs139804091	missense variant	-	NC_000002.12:g.160112101T>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser696Arg	rs1252096609	missense variant	-	NC_000002.12:g.160112095T>G	gnomAD
ITGB6	P18564	p.Ile697Ser	rs1233486573	missense variant	-	NC_000002.12:g.160112091A>C	gnomAD
ITGB6	P18564	p.Asn698Ile	rs577005383	missense variant	-	NC_000002.12:g.160112088T>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn698Asp	rs779056066	missense variant	-	NC_000002.12:g.160112089T>C	ExAC
ITGB6	P18564	p.Asn698Ser	rs577005383	missense variant	-	NC_000002.12:g.160112088T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu699Gly	rs764161553	missense variant	-	NC_000002.12:g.160112085T>C	ExAC,gnomAD
ITGB6	P18564	p.Glu699Asp	rs1360357955	missense variant	-	NC_000002.12:g.160112084T>G	TOPMed
ITGB6	P18564	p.Glu699Ter	rs753934656	stop gained	-	NC_000002.12:g.160112086C>A	ExAC,gnomAD
ITGB6	P18564	p.Lys700Glu	rs895658072	missense variant	-	NC_000002.12:g.160112083T>C	TOPMed,gnomAD
ITGB6	P18564	p.Cys702Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160107842C>A	NCI-TCGA
ITGB6	P18564	p.Pro703Arg	rs369122182	missense variant	-	NC_000002.12:g.160107839G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro703Leu	rs369122182	missense variant	-	NC_000002.12:g.160107839G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro703Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160107840G>A	NCI-TCGA
ITGB6	P18564	p.Lys704Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160107835C>G	NCI-TCGA
ITGB6	P18564	p.Pro705Thr	rs777918545	missense variant	-	NC_000002.12:g.160107834G>T	ExAC,gnomAD
ITGB6	P18564	p.Pro705Ala	rs777918545	missense variant	-	NC_000002.12:g.160107834G>C	ExAC,gnomAD
ITGB6	P18564	p.Pro706Ala	rs756213093	missense variant	-	NC_000002.12:g.160107831G>C	ExAC,gnomAD
ITGB6	P18564	p.Asn707Ile	rs766351579	missense variant	-	NC_000002.12:g.160107827T>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn707Asp	rs377135299	missense variant	-	NC_000002.12:g.160107828T>C	ESP,ExAC,gnomAD
ITGB6	P18564	p.Met710Arg	rs1416979649	missense variant	-	NC_000002.12:g.160107818A>C	TOPMed,gnomAD
ITGB6	P18564	p.Met710Thr	rs1416979649	missense variant	-	NC_000002.12:g.160107818A>G	TOPMed,gnomAD
ITGB6	P18564	p.Met710Val	rs1159479045	missense variant	-	NC_000002.12:g.160107819T>C	TOPMed
ITGB6	P18564	p.Ile711Val	rs372646338	missense variant	-	NC_000002.12:g.160107816T>C	ESP,ExAC,gnomAD
ITGB6	P18564	p.Ile711Thr	rs750251062	missense variant	-	NC_000002.12:g.160107815A>G	ExAC,gnomAD
ITGB6	P18564	p.Met712Thr	rs367865998	missense variant	-	NC_000002.12:g.160107812A>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu713Val	rs1280244580	missense variant	-	NC_000002.12:g.160107810A>C	gnomAD
ITGB6	P18564	p.Gly714Arg	rs757207082	missense variant	-	NC_000002.12:g.160107807C>T	ExAC,gnomAD
ITGB6	P18564	p.Val715Ile	rs776455815	missense variant	-	NC_000002.12:g.160107804C>T	ExAC
ITGB6	P18564	p.Val715Asp	rs573911717	missense variant	-	NC_000002.12:g.160107803A>T	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Val715Gly	rs573911717	missense variant	-	NC_000002.12:g.160107803A>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ser716Phe	rs775131133	missense variant	-	NC_000002.12:g.160107800G>A	ExAC,gnomAD
ITGB6	P18564	p.Ala718Pro	rs979599332	missense variant	-	NC_000002.12:g.160107795C>G	TOPMed
ITGB6	P18564	p.Ala718Thr	rs979599332	missense variant	-	NC_000002.12:g.160107795C>T	TOPMed
ITGB6	P18564	p.Ile719Val	rs1374016397	missense variant	-	NC_000002.12:g.160107792T>C	TOPMed
ITGB6	P18564	p.Leu721Pro	rs1238745539	missense variant	-	NC_000002.12:g.160107785A>G	gnomAD
ITGB6	P18564	p.Gly723Arg	rs966484703	missense variant	-	NC_000002.12:g.160107780C>G	TOPMed,gnomAD
ITGB6	P18564	p.Gly723Arg	COSM1008240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160107780C>T	NCI-TCGA Cosmic
ITGB6	P18564	p.Val724Phe	rs146397669	missense variant	-	NC_000002.12:g.160107777C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val724Leu	rs146397669	missense variant	-	NC_000002.12:g.160107777C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val724Ile	rs146397669	missense variant	-	NC_000002.12:g.160107777C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val725Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160107774C>T	NCI-TCGA
ITGB6	P18564	p.Leu727Arg	rs749610054	missense variant	-	NC_000002.12:g.160107767A>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile729Ser	COSM1008238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160107761A>C	NCI-TCGA Cosmic
ITGB6	P18564	p.Trp730Cys	rs778009963	missense variant	-	NC_000002.12:g.160107757C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu732Val	rs1256164920	missense variant	-	NC_000002.12:g.160107753G>C	TOPMed
ITGB6	P18564	p.Val734Met	rs374327754	missense variant	-	NC_000002.12:g.160107747C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser735Pro	rs781242094	missense variant	-	NC_000002.12:g.160107744A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His737Arg	rs754956643	missense variant	-	NC_000002.12:g.160107737T>C	ExAC,gnomAD
ITGB6	P18564	p.Asp738Tyr	rs1189425088	missense variant	-	NC_000002.12:g.160107735C>A	gnomAD
ITGB6	P18564	p.Asp738Gly	rs1486964947	missense variant	-	NC_000002.12:g.160107734T>C	gnomAD
ITGB6	P18564	p.Arg739Leu	rs757115141	missense variant	-	NC_000002.12:g.160107731C>A	ExAC,gnomAD
ITGB6	P18564	p.Arg739Pro	rs757115141	missense variant	-	NC_000002.12:g.160107731C>G	ExAC,gnomAD
ITGB6	P18564	p.Arg739His	rs757115141	missense variant	-	NC_000002.12:g.160107731C>T	ExAC,gnomAD
ITGB6	P18564	p.Arg739Cys	rs750398020	missense variant	-	NC_000002.12:g.160107732G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg739Gly	rs750398020	missense variant	-	NC_000002.12:g.160107732G>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu741Val	rs753667027	missense variant	-	NC_000002.12:g.160107725T>A	ExAC,gnomAD
ITGB6	P18564	p.Lys744Asn	rs760403120	missense variant	-	NC_000002.12:g.160107715T>A	ExAC,gnomAD
ITGB6	P18564	p.Glu746Asp	rs1416692961	missense variant	-	NC_000002.12:g.160107709T>G	TOPMed,gnomAD
ITGB6	P18564	p.Glu748Gln	COSM6154605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160107705C>G	NCI-TCGA Cosmic
ITGB6	P18564	p.Arg749Ter	rs199651918	stop gained	-	NC_000002.12:g.160107702G>A	ExAC,gnomAD
ITGB6	P18564	p.Arg749Gln	rs540109604	missense variant	-	NC_000002.12:g.160107701C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser750Thr	rs771306762	missense variant	-	NC_000002.12:g.160107699A>T	ExAC,gnomAD
ITGB6	P18564	p.Trp754Arg	rs773552663	missense variant	-	NC_000002.12:g.160107687A>T	ExAC,gnomAD
ITGB6	P18564	p.Thr756Met	rs150867142	missense variant	-	NC_000002.12:g.160107680G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr756Lys	rs150867142	missense variant	-	NC_000002.12:g.160107680G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly757Arg	rs747175115	missense variant	-	NC_000002.12:g.160101834C>T	ExAC,gnomAD
ITGB6	P18564	p.Pro760Ser	rs772215000	missense variant	-	NC_000002.12:g.160101825G>A	ExAC,gnomAD
ITGB6	P18564	p.Pro760Thr	rs772215000	missense variant	-	NC_000002.12:g.160101825G>T	ExAC,gnomAD
ITGB6	P18564	p.Tyr762Cys	rs777800965	missense variant	-	NC_000002.12:g.160101818T>C	ExAC,gnomAD
ITGB6	P18564	p.Tyr762His	rs1320721685	missense variant	-	NC_000002.12:g.160101819A>G	TOPMed
ITGB6	P18564	p.Gly764Ala	rs756002087	missense variant	-	NC_000002.12:g.160101812C>G	ExAC,gnomAD
ITGB6	P18564	p.Ser765Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160101809G>A	NCI-TCGA
ITGB6	P18564	p.Thr766Ile	rs754573154	missense variant	-	NC_000002.12:g.160101806G>A	ExAC,gnomAD
ITGB6	P18564	p.Thr766Ala	rs1274695997	missense variant	-	NC_000002.12:g.160101807T>C	TOPMed
ITGB6	P18564	p.Thr768Ile	rs751147195	missense variant	-	NC_000002.12:g.160101800G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys770Gln	rs1434516613	missense variant	-	NC_000002.12:g.160101795T>G	gnomAD
ITGB6	P18564	p.Lys770Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.160101793T>G	NCI-TCGA
ITGB6	P18564	p.Thr773Asn	rs765876600	missense variant	-	NC_000002.12:g.160101785G>T	ExAC,gnomAD
ITGB6	P18564	p.Tyr774Cys	rs762389754	missense variant	-	NC_000002.12:g.160101782T>C	ExAC,gnomAD
ITGB6	P18564	p.Lys775Ter	rs201494177	stop gained	-	NC_000002.12:g.160101780T>A	ESP,ExAC,gnomAD
ITGB6	P18564	p.Lys775Asn	rs765704356	missense variant	-	NC_000002.12:g.160101778T>A	ExAC,gnomAD
ITGB6	P18564	p.His776Pro	rs540706226	missense variant	-	NC_000002.12:g.160101776T>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His776Arg	rs540706226	missense variant	-	NC_000002.12:g.160101776T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg777Ser	rs1275269809	missense variant	-	NC_000002.12:g.160101772C>G	gnomAD
ITGB6	P18564	p.Arg777Lys	COSM3568364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.160101773C>T	NCI-TCGA Cosmic
ITGB6	P18564	p.Gln780Arg	rs1210024151	missense variant	-	NC_000002.12:g.160101764T>C	gnomAD
ITGB6	P18564	p.Gln780Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.160101766_160101767insATGTTCCTACTGGTTTCAC	NCI-TCGA
ITGB6	P18564	p.Val782Ile	rs760815776	missense variant	-	NC_000002.12:g.160101759C>T	ExAC,gnomAD
ITGB6	P18564	p.Asp783Asn	rs775725788	missense variant	-	NC_000002.12:g.160101756C>T	ExAC,gnomAD
ITGB6	P18564	p.Asp783Glu	rs1349576201	missense variant	-	NC_000002.12:g.160101754G>T	gnomAD
ITGB6	P18564	p.Leu784Ile	rs1277349276	missense variant	-	NC_000002.12:g.160101753G>T	gnomAD
ITGB6	P18564	p.Ser785Pro	rs1350520068	missense variant	-	NC_000002.12:g.160101750A>G	gnomAD
ITGB6	P18564	p.Asp787Gly	rs1246721689	missense variant	-	NC_000002.12:g.160101743T>C	TOPMed
ITGB6	P18564	p.Cys788Trp	rs745899695	missense variant	-	NC_000002.12:g.160101739G>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly2Glu	rs1429580834	missense variant	-	NC_000002.12:g.160200059C>T	gnomAD
ITGB6	P18564	p.Ile3Phe	rs142866134	missense variant	-	NC_000002.12:g.160200057T>A	ESP,ExAC
ITGB6	P18564	p.Leu6Phe	rs568630388	missense variant	-	NC_000002.12:g.160200048G>A	1000Genomes
ITGB6	P18564	p.Phe9Leu	rs750372730	missense variant	-	NC_000002.12:g.160200037G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu11Pro	rs765208666	missense variant	-	NC_000002.12:g.160200032A>G	ExAC,gnomAD
ITGB6	P18564	p.Leu13Gln	rs1442512337	missense variant	-	NC_000002.12:g.160200026A>T	gnomAD
ITGB6	P18564	p.Gly14Glu	rs776446082	missense variant	-	NC_000002.12:g.160200023C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly14Arg	rs370341448	missense variant	-	NC_000002.12:g.160200024C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg15Lys	rs188990572	missense variant	-	NC_000002.12:g.160200020C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn16His	rs144155990	missense variant	-	NC_000002.12:g.160200018T>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val19Ile	rs760097625	missense variant	-	NC_000002.12:g.160200009C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala24Asp	rs753809581	missense variant	-	NC_000002.12:g.160199249G>T	ExAC,gnomAD
ITGB6	P18564	p.Gly26Glu	rs1338078187	missense variant	-	NC_000002.12:g.160199243C>T	gnomAD
ITGB6	P18564	p.Glu29Gly	rs1455056622	missense variant	-	NC_000002.12:g.160199234T>C	gnomAD
ITGB6	P18564	p.Thr30Ser	rs933060964	missense variant	-	NC_000002.12:g.160199231G>C	TOPMed
ITGB6	P18564	p.Thr30Asn	rs933060964	missense variant	-	NC_000002.12:g.160199231G>T	TOPMed
ITGB6	P18564	p.Asp33Glu	rs1288818021	missense variant	-	NC_000002.12:g.160199221G>T	TOPMed
ITGB6	P18564	p.Cys34Ter	rs1447908074	stop gained	-	NC_000002.12:g.160199218G>T	TOPMed
ITGB6	P18564	p.Leu36Pro	rs1407406012	missense variant	-	NC_000002.12:g.160199213A>G	gnomAD
ITGB6	P18564	p.Ile37Val	rs1456041794	missense variant	-	NC_000002.12:g.160199211T>C	TOPMed,gnomAD
ITGB6	P18564	p.Pro39Leu	rs755954161	missense variant	-	NC_000002.12:g.160199204G>A	ExAC,gnomAD
ITGB6	P18564	p.Gln40Lys	rs1406168951	missense variant	-	NC_000002.12:g.160199202G>T	gnomAD
ITGB6	P18564	p.Gln40Arg	rs558509748	missense variant	-	NC_000002.12:g.160199201T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln40Leu	rs558509748	missense variant	-	NC_000002.12:g.160199201T>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys41Tyr	rs767191750	missense variant	-	NC_000002.12:g.160199198C>T	ExAC
ITGB6	P18564	p.Ala42Gly	rs150547491	missense variant	-	NC_000002.12:g.160199195G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Trp43Ter	rs755330939	stop gained	-	NC_000002.12:g.160199191C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys44Arg	rs765905953	missense variant	-	NC_000002.12:g.160199190A>G	ExAC,gnomAD
ITGB6	P18564	p.Ala45Val	rs763423532	missense variant	-	NC_000002.12:g.160199186G>A	ExAC,gnomAD
ITGB6	P18564	p.Asn48Ser	rs1370036283	missense variant	-	NC_000002.12:g.160196419T>C	gnomAD
ITGB6	P18564	p.Phe49Leu	rs1322939202	missense variant	-	NC_000002.12:g.160196415A>T	TOPMed
ITGB6	P18564	p.Thr50Ala	rs762386614	missense variant	-	NC_000002.12:g.160196414T>C	ExAC,gnomAD
ITGB6	P18564	p.His51Tyr	rs1014857218	missense variant	-	NC_000002.12:g.160196411G>A	TOPMed,gnomAD
ITGB6	P18564	p.His51Leu	rs1420201963	missense variant	-	NC_000002.12:g.160196410T>A	gnomAD
ITGB6	P18564	p.Ser53Pro	rs761037603	missense variant	-	NC_000002.12:g.160196405A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser53Cys	rs895833975	missense variant	-	NC_000002.12:g.160196404G>C	TOPMed
ITGB6	P18564	p.Val55Ala	rs1270760123	missense variant	-	NC_000002.12:g.160196398A>G	gnomAD
ITGB6	P18564	p.Gly56Ser	rs1482484963	missense variant	-	NC_000002.12:g.160196396C>T	gnomAD
ITGB6	P18564	p.Gly56Asp	rs143336326	missense variant	-	NC_000002.12:g.160196395C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu57Lys	rs774250804	missense variant	-	NC_000002.12:g.160196393C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg58Met	rs1274368531	missense variant	-	NC_000002.12:g.160196389C>A	TOPMed,gnomAD
ITGB6	P18564	p.Arg58Thr	rs1274368531	missense variant	-	NC_000002.12:g.160196389C>G	TOPMed,gnomAD
ITGB6	P18564	p.Asp60Glu	rs1378844949	missense variant	-	NC_000002.12:g.160196382A>T	TOPMed
ITGB6	P18564	p.Thr61Ile	rs1219149761	missense variant	-	NC_000002.12:g.160196380G>A	TOPMed,gnomAD
ITGB6	P18564	p.Thr61Asn	rs1219149761	missense variant	-	NC_000002.12:g.160196380G>T	TOPMed,gnomAD
ITGB6	P18564	p.Pro62Ser	rs531441228	missense variant	-	NC_000002.12:g.160196378G>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Pro62Leu	rs748070197	missense variant	-	NC_000002.12:g.160196377G>A	ExAC,gnomAD
ITGB6	P18564	p.Pro62Ala	rs531441228	missense variant	-	NC_000002.12:g.160196378G>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Asn64His	rs1350054159	missense variant	-	NC_000002.12:g.160196372T>G	gnomAD
ITGB6	P18564	p.Asn64Lys	rs139380804	missense variant	-	NC_000002.12:g.160196370G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn64Lys	rs139380804	missense variant	-	NC_000002.12:g.160196370G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu65Ile	rs369726068	missense variant	-	NC_000002.12:g.160196369G>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu65Val	rs369726068	missense variant	-	NC_000002.12:g.160196369G>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu65Phe	rs369726068	missense variant	-	NC_000002.12:g.160196369G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys70Arg	rs764621080	missense variant	-	NC_000002.12:g.160196354A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys70Ser	rs764621080	missense variant	-	NC_000002.12:g.160196354A>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln71Lys	rs1176834548	missense variant	-	NC_000002.12:g.160196351G>T	gnomAD
ITGB6	P18564	p.Ile75Phe	rs913009965	missense variant	-	NC_000002.12:g.160196339T>A	TOPMed
ITGB6	P18564	p.Glu76Ter	rs764638718	stop gained	-	NC_000002.12:g.160196336C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu76Lys	rs764638718	missense variant	-	NC_000002.12:g.160196336C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn77Lys	rs1480709067	missense variant	-	NC_000002.12:g.160196331G>C	gnomAD
ITGB6	P18564	p.Ser80Phe	rs943658539	missense variant	-	NC_000002.12:g.160196323G>A	TOPMed,gnomAD
ITGB6	P18564	p.Val82Ile	rs1460342706	missense variant	-	NC_000002.12:g.160196318C>T	TOPMed,gnomAD
ITGB6	P18564	p.Ile84Val	rs752967555	missense variant	-	NC_000002.12:g.160196312T>C	ExAC,gnomAD
ITGB6	P18564	p.Ile84Met	rs571733477	missense variant	-	NC_000002.12:g.160196310T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu85Phe	rs1328875561	missense variant	-	NC_000002.12:g.160196309G>A	gnomAD
ITGB6	P18564	p.Asn87Ser	rs759659602	missense variant	-	NC_000002.12:g.160196302T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu90Val	rs770981055	missense variant	-	NC_000002.12:g.160196294G>C	ExAC,gnomAD
ITGB6	P18564	p.Ser91Asn	rs1450395230	missense variant	-	NC_000002.12:g.160196290C>T	TOPMed,gnomAD
ITGB6	P18564	p.Ser91Gly	rs374377727	missense variant	-	NC_000002.12:g.160196291T>C	ESP
ITGB6	P18564	p.Ser91Ile	rs1450395230	missense variant	-	NC_000002.12:g.160196290C>A	TOPMed,gnomAD
ITGB6	P18564	p.Val92Ile	rs200784593	missense variant	-	NC_000002.12:g.160196288C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val92Leu	rs200784593	missense variant	-	NC_000002.12:g.160196288C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg94Lys	rs1268887120	missense variant	-	NC_000002.12:g.160196281C>T	TOPMed
ITGB6	P18564	p.Lys96Gln	rs768539900	missense variant	-	NC_000002.12:g.160196276T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn97Ser	rs375627531	missense variant	-	NC_000002.12:g.160196272T>C	gnomAD
ITGB6	P18564	p.Ser98Cys	rs545332900	missense variant	-	NC_000002.12:g.160196270T>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser99Ala	rs750388139	missense variant	-	NC_000002.12:g.160196267A>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp100Glu	rs771795596	missense variant	-	NC_000002.12:g.160196262G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile101Val	rs1445901435	missense variant	-	NC_000002.12:g.160196261T>C	gnomAD
ITGB6	P18564	p.Val102Ala	rs1456621730	missense variant	-	NC_000002.12:g.160196257A>G	TOPMed
ITGB6	P18564	p.Val102Phe	rs745503924	missense variant	-	NC_000002.12:g.160196258C>A	ExAC,gnomAD
ITGB6	P18564	p.Ala105Val	rs61758143	missense variant	-	NC_000002.12:g.160196248G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro106Leu	rs753334452	missense variant	-	NC_000002.12:g.160196245G>A	ExAC,gnomAD
ITGB6	P18564	p.Gln107Ter	rs778458175	stop gained	-	NC_000002.12:g.160196243G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser108Ile	rs756642881	missense variant	-	NC_000002.12:g.160196239C>A	ExAC,gnomAD
ITGB6	P18564	p.Ile110Thr	rs371257499	missense variant	-	NC_000002.12:g.160196233A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile110Asn	rs371257499	missense variant	-	NC_000002.12:g.160196233A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu111Phe	rs1229767855	missense variant	-	NC_000002.12:g.160196231G>A	TOPMed
ITGB6	P18564	p.Leu111Arg	rs1014930748	missense variant	-	NC_000002.12:g.160196230A>C	TOPMed
ITGB6	P18564	p.Leu113Met	rs767745535	missense variant	-	NC_000002.12:g.160196225A>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu113Ser	rs759857053	missense variant	-	NC_000002.12:g.160196224A>G	ExAC,gnomAD
ITGB6	P18564	p.Pro115Gln	rs1382519914	missense variant	-	NC_000002.12:g.160196218G>T	gnomAD
ITGB6	P18564	p.Gly116Arg	rs567764082	missense variant	-	NC_000002.12:g.160196216C>G	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Gly116Cys	rs567764082	missense variant	-	NC_000002.12:g.160196216C>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ala118Val	rs544813266	missense variant	-	NC_000002.12:g.160195609G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln122His	rs758595294	missense variant	-	NC_000002.12:g.160195596C>G	ExAC,gnomAD
ITGB6	P18564	p.Gln122His	rs758595294	missense variant	-	NC_000002.12:g.160195596C>A	ExAC,gnomAD
ITGB6	P18564	p.Gln122Arg	rs1337499144	missense variant	-	NC_000002.12:g.160195597T>C	gnomAD
ITGB6	P18564	p.His124Arg	rs1322574269	missense variant	-	NC_000002.12:g.160195591T>C	gnomAD
ITGB6	P18564	p.His124Gln	rs765295259	missense variant	-	NC_000002.12:g.160195590A>T	ExAC,gnomAD
ITGB6	P18564	p.Val125Phe	rs1406422933	missense variant	-	NC_000002.12:g.160195589C>A	gnomAD
ITGB6	P18564	p.Arg126His	rs775303141	missense variant	-	NC_000002.12:g.160195585C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg126Cys	rs760724592	missense variant	-	NC_000002.12:g.160195586G>A	ExAC,gnomAD
ITGB6	P18564	p.Arg126Leu	rs775303141	missense variant	-	NC_000002.12:g.160195585C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr128Ser	rs1327113841	missense variant	-	NC_000002.12:g.160195579G>C	TOPMed
ITGB6	P18564	p.Asp130Gly	rs770759542	missense variant	-	NC_000002.12:g.160195573T>C	ExAC,gnomAD
ITGB6	P18564	p.Asp130Asn	rs373385870	missense variant	-	NC_000002.12:g.160195574C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp130Glu	rs1262966274	missense variant	-	NC_000002.12:g.160195572G>C	TOPMed
ITGB6	P18564	p.Tyr131Cys	rs748921832	missense variant	-	NC_000002.12:g.160195570T>C	ExAC,gnomAD
ITGB6	P18564	p.Pro132Leu	rs369275471	missense variant	-	NC_000002.12:g.160195567G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val133Ala	rs1473599554	missense variant	-	NC_000002.12:g.160195564A>G	TOPMed
ITGB6	P18564	p.Asp134Gly	rs574179737	missense variant	-	NC_000002.12:g.160195561T>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Leu135Ser	rs747421856	missense variant	-	NC_000002.12:g.160195558A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Tyr136His	rs780364416	missense variant	-	NC_000002.12:g.160195556A>G	ExAC,gnomAD
ITGB6	P18564	p.Leu138Pro	rs758685362	missense variant	-	NC_000002.12:g.160195549A>G	ExAC,gnomAD
ITGB6	P18564	p.Met139Thr	rs750629583	missense variant	-	NC_000002.12:g.160195546A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu141His	rs1490234134	missense variant	-	NC_000002.12:g.160195540A>T	gnomAD
ITGB6	P18564	p.Ala143Thr	rs140015315	missense variant	Amelogenesis imperfecta 1H (AI1H)	NC_000002.12:g.160195535C>T	UniProt,dbSNP
ITGB6	P18564	p.Ala143Thr	VAR_073328	missense variant	Amelogenesis imperfecta 1H (AI1H)	NC_000002.12:g.160195535C>T	UniProt
ITGB6	P18564	p.Ala143Thr	rs140015315	missense variant	-	NC_000002.12:g.160195535C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala143Thr	RCV000157638	missense variant	Amelogenesis imperfecta, type IH (AI1H)	NC_000002.12:g.160195535C>T	ClinVar
ITGB6	P18564	p.Met145Val	rs1305834846	missense variant	-	NC_000002.12:g.160195529T>C	TOPMed,gnomAD
ITGB6	P18564	p.Met145Thr	rs767381287	missense variant	-	NC_000002.12:g.160195528A>G	ExAC,gnomAD
ITGB6	P18564	p.Asp147Asn	rs1337026770	missense variant	-	NC_000002.12:g.160195523C>T	gnomAD
ITGB6	P18564	p.Thr151Ala	rs766276805	missense variant	-	NC_000002.12:g.160195511T>C	ExAC,gnomAD
ITGB6	P18564	p.Ile152Met	rs1415659289	missense variant	-	NC_000002.12:g.160195506T>C	TOPMed
ITGB6	P18564	p.Glu154Ala	rs1020941015	missense variant	-	NC_000002.12:g.160195501T>G	TOPMed,gnomAD
ITGB6	P18564	p.Glu154Ter	rs938761545	stop gained	-	NC_000002.12:g.160195502C>A	TOPMed,gnomAD
ITGB6	P18564	p.Leu155Arg	rs1365638497	missense variant	-	NC_000002.12:g.160195498A>C	gnomAD
ITGB6	P18564	p.Gly156Val	rs773000820	missense variant	-	NC_000002.12:g.160195495C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg158Trp	rs573373997	missense variant	-	NC_000002.12:g.160195490G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg158Gln	rs747631436	missense variant	-	NC_000002.12:g.160195489C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu159Phe	rs776182333	missense variant	-	NC_000002.12:g.160195487G>A	ExAC,gnomAD
ITGB6	P18564	p.Leu159Arg	rs558188627	missense variant	-	NC_000002.12:g.160195486A>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Lys161Glu	rs747510097	missense variant	-	NC_000002.12:g.160195481T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu162Asp	rs147372514	missense variant	-	NC_000002.12:g.160195476C>A	ESP,TOPMed,gnomAD
ITGB6	P18564	p.Glu162Lys	rs780454470	missense variant	-	NC_000002.12:g.160195478C>T	ExAC,gnomAD
ITGB6	P18564	p.Met163Ile	rs539806416	missense variant	-	NC_000002.12:g.160195473C>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Arg171Ser	rs377415826	missense variant	-	NC_000002.12:g.160195449T>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg171Lys	rs779037207	missense variant	-	NC_000002.12:g.160195450C>T	ExAC,gnomAD
ITGB6	P18564	p.Gly173Ser	rs373088517	missense variant	-	NC_000002.12:g.160195445C>T	ESP,ExAC,gnomAD
ITGB6	P18564	p.Gly173Ala	rs1387477826	missense variant	-	NC_000002.12:g.160195444C>G	gnomAD
ITGB6	P18564	p.Gly175Arg	rs755036686	missense variant	-	NC_000002.12:g.160195439C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser176Tyr	rs369951064	missense variant	-	NC_000002.12:g.160195435G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser176Pro	rs1185357592	missense variant	-	NC_000002.12:g.160195436A>G	gnomAD
ITGB6	P18564	p.Glu179Lys	rs1241333934	missense variant	-	NC_000002.12:g.160195427C>T	gnomAD
ITGB6	P18564	p.Val182Ile	rs142717768	missense variant	-	NC_000002.12:g.160195418C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Phe185Tyr	rs1050990851	missense variant	-	NC_000002.12:g.160195408A>T	gnomAD
ITGB6	P18564	p.Phe185Ser	rs1050990851	missense variant	-	NC_000002.12:g.160195408A>G	gnomAD
ITGB6	P18564	p.Phe185Leu	rs1404113499	missense variant	-	NC_000002.12:g.160195407A>C	TOPMed
ITGB6	P18564	p.Val186Leu	rs375472275	missense variant	-	NC_000002.12:g.160195406C>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val186Leu	rs375472275	missense variant	-	NC_000002.12:g.160195406C>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr188Ile	rs750190939	missense variant	-	NC_000002.12:g.160195399G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr188Lys	rs750190939	missense variant	-	NC_000002.12:g.160195399G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro190Gln	rs755932139	missense variant	-	NC_000002.12:g.160195393G>T	TOPMed,gnomAD
ITGB6	P18564	p.Glu192Val	rs1248844448	missense variant	-	NC_000002.12:g.160195387T>A	gnomAD
ITGB6	P18564	p.Ala194Thr	rs764843609	missense variant	-	NC_000002.12:g.160195382C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala194Val	rs1277066102	missense variant	-	NC_000002.12:g.160195381G>A	TOPMed
ITGB6	P18564	p.Ala194Ser	rs764843609	missense variant	-	NC_000002.12:g.160195382C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn195Lys	rs1038189073	missense variant	-	NC_000002.12:g.160195377G>T	-
ITGB6	P18564	p.Pro196His	rs941116570	missense variant	-	NC_000002.12:g.160195375G>T	gnomAD
ITGB6	P18564	p.Pro196Ser	rs730880298	missense variant	-	NC_000002.12:g.160195376G>A	ExAC,gnomAD
ITGB6	P18564	p.Pro196Thr	rs730880298	missense variant	-	NC_000002.12:g.160195376G>T	ExAC,gnomAD
ITGB6	P18564	p.Pro196Thr	RCV000157641	missense variant	Amelogenesis imperfecta, type IH (AI1H)	NC_000002.12:g.160195376G>T	ClinVar
ITGB6	P18564	p.Ser198Gly	rs372144143	missense variant	-	NC_000002.12:g.160195370T>C	ESP,ExAC,gnomAD
ITGB6	P18564	p.Ile200Val	rs946554296	missense variant	-	NC_000002.12:g.160174135T>C	TOPMed,gnomAD
ITGB6	P18564	p.Tyr202His	rs374721403	missense variant	-	NC_000002.12:g.160174129A>G	ESP,TOPMed
ITGB6	P18564	p.Tyr202Phe	rs935729522	missense variant	-	NC_000002.12:g.160174128T>A	TOPMed
ITGB6	P18564	p.Phe203Leu	rs372264340	missense variant	-	NC_000002.12:g.160174124G>C	ESP,ExAC,gnomAD
ITGB6	P18564	p.Leu205Ter	rs1424112088	stop gained	-	NC_000002.12:g.160174119A>T	gnomAD
ITGB6	P18564	p.Pro206Leu	rs1479322018	missense variant	-	NC_000002.12:g.160174116G>A	gnomAD
ITGB6	P18564	p.Pro206Ser	rs772617473	missense variant	-	NC_000002.12:g.160174117G>A	ExAC,gnomAD
ITGB6	P18564	p.Thr207Ile	rs1199690484	missense variant	-	NC_000002.12:g.160174113G>A	gnomAD
ITGB6	P18564	p.Gly209Ter	rs561588576	stop gained	-	NC_000002.12:g.160174108C>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Phe210Leu	rs367990097	missense variant	-	NC_000002.12:g.160174103G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys211Asn	rs1235642411	missense variant	-	NC_000002.12:g.160174100C>G	TOPMed
ITGB6	P18564	p.His212Asn	rs1203036584	missense variant	-	NC_000002.12:g.160174099G>T	gnomAD
ITGB6	P18564	p.Leu214Ser	rs1440017757	missense variant	-	NC_000002.12:g.160174092A>G	gnomAD
ITGB6	P18564	p.Leu216Ser	rs749561988	missense variant	-	NC_000002.12:g.160174086A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr217Ala	rs1321852853	missense variant	-	NC_000002.12:g.160174084T>C	gnomAD
ITGB6	P18564	p.Arg222Ile	rs944385067	missense variant	-	NC_000002.12:g.160174068C>A	-
ITGB6	P18564	p.Phe223Leu	rs1219980649	missense variant	-	NC_000002.12:g.160174064G>C	gnomAD
ITGB6	P18564	p.Asn224Ser	rs373488084	missense variant	-	NC_000002.12:g.160174062T>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu225Lys	rs912839150	missense variant	-	NC_000002.12:g.160174060C>T	gnomAD
ITGB6	P18564	p.Lys228Asn	rs758180810	missense variant	-	NC_000002.12:g.160174049C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile232Ser	rs543211346	missense variant	-	NC_000002.12:g.160174038A>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ala234Thr	rs778657225	missense variant	-	NC_000002.12:g.160174033C>T	ExAC
ITGB6	P18564	p.Ala234Val	rs1018582237	missense variant	-	NC_000002.12:g.160174032G>A	TOPMed
ITGB6	P18564	p.Thr238Arg	rs1176349010	missense variant	-	NC_000002.12:g.160174020G>C	gnomAD
ITGB6	P18564	p.Glu240Lys	rs140624114	missense variant	-	NC_000002.12:g.160174015C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly241Ser	rs755742636	missense variant	-	NC_000002.12:g.160174012C>T	ExAC,gnomAD
ITGB6	P18564	p.Gly242Arg	rs752247019	missense variant	-	NC_000002.12:g.160174009C>T	ExAC,gnomAD
ITGB6	P18564	p.Phe243Cys	rs1239393732	missense variant	-	NC_000002.12:g.160174005A>C	TOPMed,gnomAD
ITGB6	P18564	p.Ala245Thr	rs1203575130	missense variant	-	NC_000002.12:g.160174000C>T	TOPMed,gnomAD
ITGB6	P18564	p.Ile246Val	rs1265317930	missense variant	-	NC_000002.12:g.160173997T>C	gnomAD
ITGB6	P18564	p.Gln248Ter	rs369609347	stop gained	-	NC_000002.12:g.160173991G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala250Thr	rs1316507140	missense variant	-	NC_000002.12:g.160173985C>T	gnomAD
ITGB6	P18564	p.Val251Met	rs528310931	missense variant	-	NC_000002.12:g.160173982C>T	1000Genomes,gnomAD
ITGB6	P18564	p.Val251Leu	rs528310931	missense variant	-	NC_000002.12:g.160173982C>A	1000Genomes,gnomAD
ITGB6	P18564	p.Lys253Glu	rs1211465275	missense variant	-	NC_000002.12:g.160173976T>C	gnomAD
ITGB6	P18564	p.Glu254Gly	rs541375604	missense variant	-	NC_000002.12:g.160172729T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys255Ile	rs765694627	missense variant	-	NC_000002.12:g.160172726T>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys255Asn	rs1424429623	missense variant	-	NC_000002.12:g.160172725T>G	TOPMed
ITGB6	P18564	p.Lys255Arg	rs765694627	missense variant	-	NC_000002.12:g.160172726T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile256Phe	rs1370745345	missense variant	-	NC_000002.12:g.160172724T>A	gnomAD
ITGB6	P18564	p.Ile256Thr	rs532660177	missense variant	-	NC_000002.12:g.160172723A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile256Asn	rs532660177	missense variant	-	NC_000002.12:g.160172723A>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly257Arg	rs1428351211	missense variant	-	NC_000002.12:g.160172721C>G	gnomAD
ITGB6	P18564	p.Arg259Trp	rs149747755	missense variant	-	NC_000002.12:g.160172715G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg259Gln	rs760839315	missense variant	-	NC_000002.12:g.160172714C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg259Gly	rs149747755	missense variant	-	NC_000002.12:g.160172715G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn260Lys	rs1318143553	missense variant	-	NC_000002.12:g.160172710A>T	TOPMed
ITGB6	P18564	p.Asn260Asp	rs775400949	missense variant	-	NC_000002.12:g.160172712T>C	ExAC
ITGB6	P18564	p.Leu263Phe	rs1268292637	missense variant	-	NC_000002.12:g.160172703G>A	gnomAD
ITGB6	P18564	p.His264Tyr	rs749165480	missense variant	-	NC_000002.12:g.160172700G>A	ExAC,gnomAD
ITGB6	P18564	p.Val267Leu	rs139649173	missense variant	-	NC_000002.12:g.160172691C>G	ESP,ExAC,TOPMed
ITGB6	P18564	p.Val267Gly	rs1489486330	missense variant	-	NC_000002.12:g.160172690A>C	TOPMed,gnomAD
ITGB6	P18564	p.Asp271Ala	rs747875880	missense variant	-	NC_000002.12:g.160172678T>G	ExAC,gnomAD
ITGB6	P18564	p.Asp271Gly	rs747875880	missense variant	-	NC_000002.12:g.160172678T>C	ExAC,gnomAD
ITGB6	P18564	p.Asp271Glu	rs1305560456	missense variant	-	NC_000002.12:g.160172677A>T	gnomAD
ITGB6	P18564	p.Asp273Glu	rs61737770	missense variant	-	NC_000002.12:g.160172671A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser274Cys	rs751132914	missense variant	-	NC_000002.12:g.160172669G>C	ExAC
ITGB6	P18564	p.His275Gln	RCV000157639	missense variant	Amelogenesis imperfecta, type IH (AI1H)	NC_000002.12:g.160172665A>T	ClinVar
ITGB6	P18564	p.His275Gln	rs730882118	missense variant	-	NC_000002.12:g.160172665A>T	-
ITGB6	P18564	p.Phe276Tyr	rs1336914628	missense variant	-	NC_000002.12:g.160172663A>T	TOPMed
ITGB6	P18564	p.Gly277Arg	rs1218889954	missense variant	-	NC_000002.12:g.160172661C>G	gnomAD
ITGB6	P18564	p.Met278Ile	rs1300871316	missense variant	-	NC_000002.12:g.160172656C>T	gnomAD
ITGB6	P18564	p.Asp279Val	rs1406315767	missense variant	-	NC_000002.12:g.160172654T>A	gnomAD
ITGB6	P18564	p.Lys281Asn	rs1461862005	missense variant	-	NC_000002.12:g.160172647T>A	TOPMed,gnomAD
ITGB6	P18564	p.Leu282Val	rs143852527	missense variant	-	NC_000002.12:g.160172646G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu282Gln	rs1444999650	missense variant	-	NC_000002.12:g.160172645A>T	TOPMed
ITGB6	P18564	p.Ala283Pro	rs762290626	missense variant	-	NC_000002.12:g.160172643C>G	ExAC,gnomAD
ITGB6	P18564	p.Val286Ile	rs576531469	missense variant	-	NC_000002.12:g.160172634C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val286Leu	rs576531469	missense variant	-	NC_000002.12:g.160172634C>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro288Ser	rs775695114	missense variant	-	NC_000002.12:g.160172628G>A	ExAC,gnomAD
ITGB6	P18564	p.Pro288Leu	rs772038274	missense variant	-	NC_000002.12:g.160172627G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn289His	rs561446961	missense variant	-	NC_000002.12:g.160172625T>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp290Glu	rs769665409	missense variant	-	NC_000002.12:g.160172620G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly291Arg	rs144253582	missense variant	-	NC_000002.12:g.160172619C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu295Ser	rs887381626	missense variant	-	NC_000002.12:g.160172606A>G	gnomAD
ITGB6	P18564	p.Leu295Phe	rs1299690741	missense variant	-	NC_000002.12:g.160172605C>A	TOPMed
ITGB6	P18564	p.Asp296Gly	rs188645370	missense variant	-	NC_000002.12:g.160172603T>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ser297Arg	rs768415795	missense variant	-	NC_000002.12:g.160172599G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn299Ser	rs746639859	missense variant	-	NC_000002.12:g.160172594T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu300Lys	rs779692470	missense variant	-	NC_000002.12:g.160172592C>T	ExAC,gnomAD
ITGB6	P18564	p.Glu300Lys	RCV000201256	missense variant	Adolescent alopeciam dentogingival abnormalitites and intellectual disability	NC_000002.12:g.160172592C>T	ClinVar
ITGB6	P18564	p.Tyr301His	rs1391345733	missense variant	-	NC_000002.12:g.160172589A>G	gnomAD
ITGB6	P18564	p.Tyr301Phe	rs1310602357	missense variant	-	NC_000002.12:g.160172588T>A	TOPMed
ITGB6	P18564	p.Met303Val	rs1395024664	missense variant	-	NC_000002.12:g.160172583T>C	TOPMed,gnomAD
ITGB6	P18564	p.Val306Leu	rs371374688	missense variant	-	NC_000002.12:g.160172574C>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu308Asp	rs757895371	missense variant	-	NC_000002.12:g.160169305T>G	ExAC,gnomAD
ITGB6	P18564	p.Thr311Ala	rs1189419812	missense variant	-	NC_000002.12:g.160169298T>C	gnomAD
ITGB6	P18564	p.Gly313Arg	rs1442752369	missense variant	-	NC_000002.12:g.160169292C>T	gnomAD
ITGB6	P18564	p.Gln314Arg	rs1260682322	missense variant	-	NC_000002.12:g.160169288T>C	gnomAD
ITGB6	P18564	p.Ile316Ser	rs1286063802	missense variant	-	NC_000002.12:g.160169282A>C	gnomAD
ITGB6	P18564	p.Val320Glu	rs753053909	missense variant	-	NC_000002.12:g.160169270A>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val320Ala	rs753053909	missense variant	-	NC_000002.12:g.160169270A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn323Lys	rs138313490	missense variant	-	NC_000002.12:g.160169260G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val324Met	rs751699169	missense variant	-	NC_000002.12:g.160169259C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile327Phe	rs1453707252	missense variant	-	NC_000002.12:g.160169250T>A	TOPMed
ITGB6	P18564	p.Ile327Ser	rs1287594216	missense variant	-	NC_000002.12:g.160169249A>C	TOPMed
ITGB6	P18564	p.Phe328Ser	rs762957132	missense variant	-	NC_000002.12:g.160169246A>G	ExAC,gnomAD
ITGB6	P18564	p.Ala329Thr	rs764045213	missense variant	-	NC_000002.12:g.160169244C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala329Gly	rs760420082	missense variant	-	NC_000002.12:g.160169243G>C	ExAC
ITGB6	P18564	p.Val330Glu	rs1381679184	missense variant	-	NC_000002.12:g.160169240A>T	TOPMed
ITGB6	P18564	p.Gln332Arg	rs771900116	missense variant	-	NC_000002.12:g.160169234T>C	ExAC,gnomAD
ITGB6	P18564	p.Glu333Gly	rs142185271	missense variant	-	NC_000002.12:g.160169231T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln334Lys	rs774070136	missense variant	-	NC_000002.12:g.160169229G>T	ExAC
ITGB6	P18564	p.His336Asn	rs770567732	missense variant	-	NC_000002.12:g.160169223G>T	ExAC,gnomAD
ITGB6	P18564	p.His336Tyr	rs770567732	missense variant	-	NC_000002.12:g.160169223G>A	ExAC,gnomAD
ITGB6	P18564	p.Tyr338Cys	rs1321753703	missense variant	-	NC_000002.12:g.160169216T>C	TOPMed
ITGB6	P18564	p.Asn340Thr	rs113506485	missense variant	-	NC_000002.12:g.160142070T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn340Ser	rs113506485	missense variant	-	NC_000002.12:g.160142070T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala342Thr	rs140967203	missense variant	-	NC_000002.12:g.160142065C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu344Val	rs148922939	missense variant	-	NC_000002.12:g.160142059G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu344Phe	rs148922939	missense variant	-	NC_000002.12:g.160142059G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala348Val	rs762398057	missense variant	-	NC_000002.12:g.160142046G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val350Ile	rs772743429	missense variant	-	NC_000002.12:g.160142041C>T	ExAC,gnomAD
ITGB6	P18564	p.Leu353His	rs1047205910	missense variant	-	NC_000002.12:g.160142031A>T	TOPMed
ITGB6	P18564	p.Gln354Leu	rs748688893	missense variant	-	NC_000002.12:g.160142028T>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln354Ter	rs770266214	stop gained	-	NC_000002.12:g.160142029G>A	ExAC
ITGB6	P18564	p.Lys355Thr	rs1197184529	missense variant	-	NC_000002.12:g.160142025T>G	gnomAD
ITGB6	P18564	p.Gly358Arg	rs769024553	missense variant	-	NC_000002.12:g.160142017C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu361Pro	rs1374128495	missense variant	-	NC_000002.12:g.160142007A>G	TOPMed
ITGB6	P18564	p.Ile365Val	rs1437007812	missense variant	-	NC_000002.12:g.160141996T>C	TOPMed
ITGB6	P18564	p.Ala367Pro	rs780288634	missense variant	-	NC_000002.12:g.160141990C>G	ExAC,gnomAD
ITGB6	P18564	p.Tyr368Cys	rs1335141872	missense variant	-	NC_000002.12:g.160141986T>C	gnomAD
ITGB6	P18564	p.Arg372Trp	rs747415493	missense variant	-	NC_000002.12:g.160138193G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg372Gln	rs780376574	missense variant	-	NC_000002.12:g.160138192C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser373Phe	rs1475767024	missense variant	-	NC_000002.12:g.160138189G>A	gnomAD
ITGB6	P18564	p.Glu374Val	rs778933431	missense variant	-	NC_000002.12:g.160138186T>A	ExAC,gnomAD
ITGB6	P18564	p.Glu374Ter	rs181269473	stop gained	-	NC_000002.12:g.160138187C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val375Met	rs1211021472	missense variant	-	NC_000002.12:g.160138184C>T	gnomAD
ITGB6	P18564	p.Glu378Lys	rs757370505	missense variant	-	NC_000002.12:g.160138175C>T	ExAC,gnomAD
ITGB6	P18564	p.Gly381Glu	rs921918641	missense variant	-	NC_000002.12:g.160138165C>T	TOPMed,gnomAD
ITGB6	P18564	p.Thr383Pro	rs1354382788	missense variant	-	NC_000002.12:g.160138160T>G	TOPMed,gnomAD
ITGB6	P18564	p.Thr383Ser	rs1354382788	missense variant	-	NC_000002.12:g.160138160T>A	TOPMed,gnomAD
ITGB6	P18564	p.Gly385Arg	rs753916892	missense variant	-	NC_000002.12:g.160138154C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu386Phe	rs781307303	missense variant	-	NC_000002.12:g.160138151G>A	ExAC,gnomAD
ITGB6	P18564	p.Leu388Val	rs1303080299	missense variant	-	NC_000002.12:g.160138145A>C	gnomAD
ITGB6	P18564	p.Phe390Leu	rs1358107510	missense variant	-	NC_000002.12:g.160138139A>G	TOPMed,gnomAD
ITGB6	P18564	p.Thr391Ala	rs1201159309	missense variant	-	NC_000002.12:g.160138136T>C	gnomAD
ITGB6	P18564	p.Ala392Thr	rs766195598	missense variant	-	NC_000002.12:g.160138133C>T	ExAC,gnomAD
ITGB6	P18564	p.Ala392Pro	rs766195598	missense variant	-	NC_000002.12:g.160138133C>G	ExAC,gnomAD
ITGB6	P18564	p.Ala392Val	rs374723421	missense variant	-	NC_000002.12:g.160138132G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile393Val	rs750105853	missense variant	-	NC_000002.12:g.160138130T>C	ExAC,gnomAD
ITGB6	P18564	p.Cys394Arg	rs764751218	missense variant	-	NC_000002.12:g.160138127A>G	ExAC,gnomAD
ITGB6	P18564	p.Asn396Asp	rs1422449131	missense variant	-	NC_000002.12:g.160138121T>C	gnomAD
ITGB6	P18564	p.Gly397Ser	rs776089189	missense variant	-	NC_000002.12:g.160138118C>T	ExAC,gnomAD
ITGB6	P18564	p.Thr398Ala	rs764634066	missense variant	-	NC_000002.12:g.160138115T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr398Pro	rs764634066	missense variant	-	NC_000002.12:g.160138115T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu399Val	rs761158424	missense variant	-	NC_000002.12:g.160138112G>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln401Ter	rs1488654094	stop gained	-	NC_000002.12:g.160138106G>A	gnomAD
ITGB6	P18564	p.His402Arg	rs772489907	missense variant	-	NC_000002.12:g.160138102T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His402Pro	rs772489907	missense variant	-	NC_000002.12:g.160138102T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His402Gln	rs746158392	missense variant	-	NC_000002.12:g.160138101G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys405Ile	rs774654149	missense variant	-	NC_000002.12:g.160138093T>A	ExAC,gnomAD
ITGB6	P18564	p.Ser407Tyr	rs147811874	missense variant	-	NC_000002.12:g.160138087G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His408Asn	rs1279696049	missense variant	-	NC_000002.12:g.160138085G>T	gnomAD
ITGB6	P18564	p.Met409Val	rs755020309	missense variant	-	NC_000002.12:g.160138082T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Met409Leu	rs755020309	missense variant	-	NC_000002.12:g.160138082T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys410Glu	rs1340840158	missense variant	-	NC_000002.12:g.160138079T>C	gnomAD
ITGB6	P18564	p.Asp413Asn	rs746951303	missense variant	-	NC_000002.12:g.160138070C>T	ExAC
ITGB6	P18564	p.Thr414Pro	rs1206326219	missense variant	-	NC_000002.12:g.160138067T>G	TOPMed
ITGB6	P18564	p.Thr414Arg	rs779801184	missense variant	-	NC_000002.12:g.160138066G>C	ExAC,gnomAD
ITGB6	P18564	p.Ala415Ser	rs756971112	missense variant	-	NC_000002.12:g.160137851C>A	ExAC,gnomAD
ITGB6	P18564	p.Phe417Cys	rs1312246698	missense variant	-	NC_000002.12:g.160137844A>C	gnomAD
ITGB6	P18564	p.Ser418Arg	rs144315908	missense variant	-	NC_000002.12:g.160137840G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val419Leu	rs755642266	missense variant	-	NC_000002.12:g.160137839C>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val419Met	rs755642266	missense variant	-	NC_000002.12:g.160137839C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val421Leu	rs1333730175	missense variant	-	NC_000002.12:g.160137833C>G	gnomAD
ITGB6	P18564	p.Asn422Asp	rs201585236	missense variant	-	NC_000002.12:g.160137830T>C	ExAC,gnomAD
ITGB6	P18564	p.Pro424Leu	rs1401813627	missense variant	-	NC_000002.12:g.160137823G>A	TOPMed,gnomAD
ITGB6	P18564	p.His425Arg	rs1460296616	missense variant	-	NC_000002.12:g.160137820T>C	TOPMed
ITGB6	P18564	p.Glu427Gln	rs763356279	missense variant	-	NC_000002.12:g.160137815C>G	ExAC,gnomAD
ITGB6	P18564	p.Glu427Lys	rs763356279	missense variant	-	NC_000002.12:g.160137815C>T	ExAC,gnomAD
ITGB6	P18564	p.Arg428Lys	rs950615749	missense variant	-	NC_000002.12:g.160137811C>T	TOPMed,gnomAD
ITGB6	P18564	p.Ser430Arg	rs1157575873	missense variant	-	NC_000002.12:g.160137804G>T	TOPMed
ITGB6	P18564	p.Arg431Ser	rs773594504	missense variant	-	NC_000002.12:g.160137801C>A	ExAC,gnomAD
ITGB6	P18564	p.Ile433Met	rs61748239	missense variant	-	NC_000002.12:g.160137795A>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile433Thr	rs761994942	missense variant	-	NC_000002.12:g.160137796A>G	ExAC,gnomAD
ITGB6	P18564	p.Ile433Val	rs770103682	missense variant	-	NC_000002.12:g.160137797T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile434Val	rs745790038	missense variant	-	NC_000002.12:g.160137794T>C	ExAC,gnomAD
ITGB6	P18564	p.Ile434Leu	rs745790038	missense variant	-	NC_000002.12:g.160137794T>G	ExAC,gnomAD
ITGB6	P18564	p.Pro437Thr	rs2305820	missense variant	-	NC_000002.12:g.160137785G>T	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Pro437Thr	rs2305820	missense variant	-	NC_000002.12:g.160137785G>T	UniProt,dbSNP
ITGB6	P18564	p.Pro437Thr	VAR_049636	missense variant	-	NC_000002.12:g.160137785G>T	UniProt
ITGB6	P18564	p.Val438Met	rs61737764	missense variant	-	NC_000002.12:g.160137782C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly439Glu	rs557230094	missense variant	-	NC_000002.12:g.160137778C>T	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Leu440Gln	rs1405236795	missense variant	-	NC_000002.12:g.160137775A>T	TOPMed
ITGB6	P18564	p.Gly441Ala	rs1338460810	missense variant	-	NC_000002.12:g.160137772C>G	TOPMed
ITGB6	P18564	p.Asp442Asn	rs755729961	missense variant	-	NC_000002.12:g.160137770C>T	ExAC,gnomAD
ITGB6	P18564	p.Ala443Asp	rs752297911	missense variant	-	NC_000002.12:g.160137766G>T	ExAC,gnomAD
ITGB6	P18564	p.Ala443Thr	rs1332447279	missense variant	-	NC_000002.12:g.160137767C>T	gnomAD
ITGB6	P18564	p.Leu446Phe	rs1340786035	missense variant	-	NC_000002.12:g.160137756T>A	TOPMed
ITGB6	P18564	p.Val448Ala	rs780549686	missense variant	-	NC_000002.12:g.160137751A>G	ExAC,gnomAD
ITGB6	P18564	p.Glu451Gly	rs755571854	missense variant	-	NC_000002.12:g.160137742T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys452Arg	rs1382170524	missense variant	-	NC_000002.12:g.160137740A>G	TOPMed,gnomAD
ITGB6	P18564	p.Asn453Lys	rs1159163609	missense variant	-	NC_000002.12:g.160137735G>T	gnomAD
ITGB6	P18564	p.Asp455Tyr	rs201552904	missense variant	-	NC_000002.12:g.160137731C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp455Asn	rs201552904	missense variant	-	NC_000002.12:g.160137731C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys456Phe	rs765605951	missense variant	-	NC_000002.12:g.160137727C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys456Tyr	rs765605951	missense variant	-	NC_000002.12:g.160137727C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln457Ter	rs200295975	stop gained	-	NC_000002.12:g.160137725G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln457Arg	rs1261992701	missense variant	-	NC_000002.12:g.160137724T>C	gnomAD
ITGB6	P18564	p.Val460Leu	rs768624598	missense variant	-	NC_000002.12:g.160137716C>G	ExAC,gnomAD
ITGB6	P18564	p.Val460Leu	rs768624598	missense variant	-	NC_000002.12:g.160137716C>A	ExAC,gnomAD
ITGB6	P18564	p.Glu461Gln	rs760749196	missense variant	-	NC_000002.12:g.160137713C>G	ExAC,gnomAD
ITGB6	P18564	p.Asn463Tyr	rs1437561442	missense variant	-	NC_000002.12:g.160137707T>A	TOPMed
ITGB6	P18564	p.Ser464Ile	rs770815372	missense variant	-	NC_000002.12:g.160137703C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser465Thr	rs1282738944	missense variant	-	NC_000002.12:g.160137701A>T	gnomAD
ITGB6	P18564	p.Lys466Glu	rs1030364807	missense variant	-	NC_000002.12:g.160137698T>C	TOPMed
ITGB6	P18564	p.Lys466Asn	rs749120125	missense variant	-	NC_000002.12:g.160137696T>A	ExAC,gnomAD
ITGB6	P18564	p.Cys467Phe	rs996563498	missense variant	-	NC_000002.12:g.160137694C>A	TOPMed
ITGB6	P18564	p.His468Leu	rs1277804797	missense variant	-	NC_000002.12:g.160137691T>A	gnomAD
ITGB6	P18564	p.His468Tyr	rs1356386845	missense variant	-	NC_000002.12:g.160137692G>A	gnomAD
ITGB6	P18564	p.His469Asn	rs142197545	missense variant	-	NC_000002.12:g.160137689G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly470Arg	rs55841905	missense variant	-	NC_000002.12:g.160137686C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly470Val	rs148881693	missense variant	-	NC_000002.12:g.160137685C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn471Ser	rs746489935	missense variant	-	NC_000002.12:g.160137682T>C	ExAC,gnomAD
ITGB6	P18564	p.Gly472Asp	rs750875825	missense variant	-	NC_000002.12:g.160137679C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly472Cys	rs758952593	missense variant	-	NC_000002.12:g.160137680C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly472Ser	rs758952593	missense variant	-	NC_000002.12:g.160137680C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly472Ala	rs750875825	missense variant	-	NC_000002.12:g.160137679C>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser473Phe	rs765694694	missense variant	-	NC_000002.12:g.160137676G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln475Arg	rs373568907	missense variant	-	NC_000002.12:g.160137670T>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys476Arg	rs1194548328	missense variant	-	NC_000002.12:g.160137668A>G	gnomAD
ITGB6	P18564	p.Gly477Val	rs570810791	missense variant	-	NC_000002.12:g.160137664C>A	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Gly477Ala	rs570810791	missense variant	-	NC_000002.12:g.160137664C>G	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Cys479Arg	rs1335898880	missense variant	-	NC_000002.12:g.160137659A>G	gnomAD
ITGB6	P18564	p.Ala480Val	rs775516477	missense variant	-	NC_000002.12:g.160137655G>A	ExAC,gnomAD
ITGB6	P18564	p.Ala480Ser	rs760699404	missense variant	-	NC_000002.12:g.160137656C>A	ExAC,gnomAD
ITGB6	P18564	p.Cys481Tyr	rs1225916314	missense variant	-	NC_000002.12:g.160137652C>T	TOPMed
ITGB6	P18564	p.His482Gln	rs762861083	missense variant	-	NC_000002.12:g.160137648G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His482Asn	rs766349364	missense variant	-	NC_000002.12:g.160137650G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly484Asp	rs1194415476	missense variant	-	NC_000002.12:g.160137643C>T	TOPMed
ITGB6	P18564	p.His485Gln	rs1329310318	missense variant	-	NC_000002.12:g.160137639G>T	gnomAD
ITGB6	P18564	p.Met486Val	rs147011033	missense variant	-	NC_000002.12:g.160137638T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly487Glu	rs193920975	missense variant	-	NC_000002.12:g.160137634C>T	gnomAD
ITGB6	P18564	p.Gly487Trp	rs769477320	missense variant	-	NC_000002.12:g.160137635C>A	ExAC,gnomAD
ITGB6	P18564	p.Gly487Arg	rs769477320	missense variant	-	NC_000002.12:g.160137635C>T	ExAC,gnomAD
ITGB6	P18564	p.Gly487Val	rs193920975	missense variant	-	NC_000002.12:g.160137634C>A	gnomAD
ITGB6	P18564	p.Gly487Glu	RCV000149009	missense variant	Malignant tumor of prostate	NC_000002.12:g.160137634C>T	ClinVar
ITGB6	P18564	p.Pro488Thr	rs147828856	missense variant	-	NC_000002.12:g.160137632G>T	ESP,ExAC
ITGB6	P18564	p.Arg489His	rs369831997	missense variant	-	NC_000002.12:g.160137628C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg489Cys	rs776181453	missense variant	-	NC_000002.12:g.160137629G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg489Leu	rs369831997	missense variant	-	NC_000002.12:g.160137628C>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu494Lys	rs374801905	missense variant	-	NC_000002.12:g.160137614C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu494Gln	rs374801905	missense variant	-	NC_000002.12:g.160137614C>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu494Ala	rs1201576711	missense variant	-	NC_000002.12:g.160137613T>G	gnomAD
ITGB6	P18564	p.Met496Leu	rs1237908560	missense variant	-	NC_000002.12:g.160137608T>G	gnomAD
ITGB6	P18564	p.Leu497Met	rs1461342856	missense variant	-	NC_000002.12:g.160137605G>T	TOPMed
ITGB6	P18564	p.Ser498Arg	rs1320329851	missense variant	-	NC_000002.12:g.160137600G>T	gnomAD
ITGB6	P18564	p.Ser498Asn	rs372571486	missense variant	-	NC_000002.12:g.160137601C>T	ESP,ExAC,gnomAD
ITGB6	P18564	p.Thr499Ala	rs562815517	missense variant	-	NC_000002.12:g.160137599T>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ser501Tyr	rs1218788898	missense variant	-	NC_000002.12:g.160137592G>T	gnomAD
ITGB6	P18564	p.Glu504Asp	rs756336739	missense variant	-	NC_000002.12:g.160137582C>A	ExAC
ITGB6	P18564	p.Ala505Thr	rs909210743	missense variant	-	NC_000002.12:g.160137581C>T	gnomAD
ITGB6	P18564	p.Pro506Leu	rs752829523	missense variant	-	NC_000002.12:g.160137577G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro506Ala	rs983417389	missense variant	-	NC_000002.12:g.160137578G>C	gnomAD
ITGB6	P18564	p.Pro506Gln	rs752829523	missense variant	-	NC_000002.12:g.160137577G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp507His	rs1329111126	missense variant	-	NC_000002.12:g.160137575C>G	gnomAD
ITGB6	P18564	p.His508Asn	rs917818547	missense variant	-	NC_000002.12:g.160137572G>T	TOPMed,gnomAD
ITGB6	P18564	p.His508Arg	rs1302648317	missense variant	-	NC_000002.12:g.160137571T>C	TOPMed
ITGB6	P18564	p.Pro509His	rs767576153	missense variant	-	NC_000002.12:g.160137568G>T	ExAC,gnomAD
ITGB6	P18564	p.Pro509Arg	rs767576153	missense variant	-	NC_000002.12:g.160137568G>C	ExAC,gnomAD
ITGB6	P18564	p.Ser512Arg	rs759543622	missense variant	-	NC_000002.12:g.160137558G>T	ExAC,gnomAD
ITGB6	P18564	p.Ser512Asn	rs1326345622	missense variant	-	NC_000002.12:g.160137559C>T	TOPMed
ITGB6	P18564	p.Gly513Glu	rs978656099	missense variant	-	NC_000002.12:g.160137556C>T	TOPMed
ITGB6	P18564	p.Gly513Arg	rs199564092	missense variant	-	NC_000002.12:g.160137557C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg514Ser	rs1176108647	missense variant	-	NC_000002.12:g.160137552C>A	TOPMed,gnomAD
ITGB6	P18564	p.Arg514Lys	rs765183944	missense variant	-	NC_000002.12:g.160137553C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly515Cys	rs1455046465	missense variant	-	NC_000002.12:g.160137551C>A	gnomAD
ITGB6	P18564	p.Gly515Val	rs1290541705	missense variant	-	NC_000002.12:g.160137550C>A	TOPMed
ITGB6	P18564	p.Asp516Asn	rs1489665110	missense variant	-	NC_000002.12:g.160137548C>T	TOPMed
ITGB6	P18564	p.Gly520Val	rs768254862	missense variant	-	NC_000002.12:g.160137535C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gln521Lys	rs746655063	missense variant	-	NC_000002.12:g.160137533G>T	ExAC,gnomAD
ITGB6	P18564	p.Gln521Glu	rs746655063	missense variant	-	NC_000002.12:g.160137533G>C	ExAC,gnomAD
ITGB6	P18564	p.Cys522Gly	rs775217432	missense variant	-	NC_000002.12:g.160137530A>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile523Met	rs745321994	missense variant	-	NC_000002.12:g.160137525G>C	ExAC,gnomAD
ITGB6	P18564	p.Cys524Arg	rs1280767330	missense variant	-	NC_000002.12:g.160137524A>G	gnomAD
ITGB6	P18564	p.Leu526Trp	rs184765465	missense variant	-	NC_000002.12:g.160137517A>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu526Ser	rs184765465	missense variant	-	NC_000002.12:g.160137517A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Tyr529Cys	rs749662298	missense variant	-	NC_000002.12:g.160137508T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile532Thr	rs376026402	missense variant	-	NC_000002.12:g.160137499A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly534Glu	rs1373720934	missense variant	-	NC_000002.12:g.160137493C>T	TOPMed,gnomAD
ITGB6	P18564	p.Gly534Arg	rs1242129602	missense variant	-	NC_000002.12:g.160137494C>T	gnomAD
ITGB6	P18564	p.Pro535Leu	rs979172663	missense variant	-	NC_000002.12:g.160137490G>A	gnomAD
ITGB6	P18564	p.Gln538His	rs1383537674	missense variant	-	NC_000002.12:g.160137480C>A	gnomAD
ITGB6	P18564	p.Gln538Arg	rs756353631	missense variant	-	NC_000002.12:g.160137481T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys539Ser	rs781330759	missense variant	-	NC_000002.12:g.160137479A>T	ExAC,gnomAD
ITGB6	P18564	p.Cys539Arg	rs781330759	missense variant	-	NC_000002.12:g.160137479A>G	ExAC,gnomAD
ITGB6	P18564	p.Asp540Glu	rs755084704	missense variant	-	NC_000002.12:g.160137474G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn541Asp	rs1418523966	missense variant	-	NC_000002.12:g.160137473T>C	gnomAD
ITGB6	P18564	p.Asn541His	rs1418523966	missense variant	-	NC_000002.12:g.160137473T>G	gnomAD
ITGB6	P18564	p.Phe542Ser	rs1459564158	missense variant	-	NC_000002.12:g.160137469A>G	TOPMed
ITGB6	P18564	p.Ser543Tyr	rs765140343	missense variant	-	NC_000002.12:g.160137466G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val545Met	rs144967638	missense variant	-	NC_000002.12:g.160137461C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val545Gly	rs763955136	missense variant	-	NC_000002.12:g.160137460A>C	ExAC,gnomAD
ITGB6	P18564	p.His547Asn	rs760491071	missense variant	-	NC_000002.12:g.160137455G>T	ExAC,gnomAD
ITGB6	P18564	p.His547Gln	rs1319454224	missense variant	-	NC_000002.12:g.160137453G>T	TOPMed,gnomAD
ITGB6	P18564	p.Lys548Glu	rs1313996466	missense variant	-	NC_000002.12:g.160137452T>C	TOPMed
ITGB6	P18564	p.Gly549Arg	rs1239402477	missense variant	-	NC_000002.12:g.160137449C>T	TOPMed,gnomAD
ITGB6	P18564	p.Leu550Arg	rs775305706	missense variant	-	NC_000002.12:g.160137445A>C	ExAC,gnomAD
ITGB6	P18564	p.Leu551Phe	rs144680666	missense variant	-	NC_000002.12:g.160137443G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys552Ter	rs139038668	stop gained	-	NC_000002.12:g.160137438G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys552Trp	rs139038668	missense variant	-	NC_000002.12:g.160137438G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly553Arg	rs188076755	missense variant	-	NC_000002.12:g.160137437C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly553Ter	rs188076755	stop gained	-	NC_000002.12:g.160137437C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly554Ser	rs1226374205	missense variant	-	NC_000002.12:g.160137434C>T	gnomAD
ITGB6	P18564	p.Gly554Asp	rs546972685	missense variant	-	NC_000002.12:g.160126601C>T	1000Genomes,TOPMed,gnomAD
ITGB6	P18564	p.Gly556Cys	rs748564787	missense variant	-	NC_000002.12:g.160126596C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly556Ser	rs748564787	missense variant	-	NC_000002.12:g.160126596C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp557Asn	rs143914557	missense variant	-	NC_000002.12:g.160126593C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asp557Tyr	rs143914557	missense variant	-	NC_000002.12:g.160126593C>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys558Gly	rs1201520091	missense variant	-	NC_000002.12:g.160126590A>C	TOPMed
ITGB6	P18564	p.Gly561Ala	rs1477208637	missense variant	-	NC_000002.12:g.160126580C>G	TOPMed
ITGB6	P18564	p.Cys563Phe	rs1253352527	missense variant	-	NC_000002.12:g.160126574C>A	gnomAD
ITGB6	P18564	p.Val564Glu	rs1197756453	missense variant	-	NC_000002.12:g.160126571A>T	TOPMed,gnomAD
ITGB6	P18564	p.Cys565Arg	rs780082370	missense variant	-	NC_000002.12:g.160126569A>G	ExAC,gnomAD
ITGB6	P18564	p.Cys565Tyr	rs758528594	missense variant	-	NC_000002.12:g.160126568C>T	ExAC,gnomAD
ITGB6	P18564	p.Arg566Ser	rs745898382	missense variant	-	NC_000002.12:g.160126564C>A	ExAC,gnomAD
ITGB6	P18564	p.Ser567Asn	rs1385559013	missense variant	-	NC_000002.12:g.160126562C>T	TOPMed,gnomAD
ITGB6	P18564	p.Ser567Cys	rs777895050	missense variant	-	NC_000002.12:g.160126563T>A	ExAC,gnomAD
ITGB6	P18564	p.Ser567Arg	rs756097127	missense variant	-	NC_000002.12:g.160126561G>T	ExAC,gnomAD
ITGB6	P18564	p.Gly568Ser	rs752597141	missense variant	-	NC_000002.12:g.160126560C>T	ExAC,gnomAD
ITGB6	P18564	p.Trp569Arg	rs1446463021	missense variant	-	NC_000002.12:g.160126557A>G	gnomAD
ITGB6	P18564	p.Thr570Ala	rs767415409	missense variant	-	NC_000002.12:g.160126554T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly571Asp	rs754659009	missense variant	-	NC_000002.12:g.160126550C>T	ExAC,gnomAD
ITGB6	P18564	p.Glu572Lys	rs144758639	missense variant	-	NC_000002.12:g.160126548C>T	ESP,ExAC,gnomAD
ITGB6	P18564	p.Tyr573Ter	rs1173904734	stop gained	-	NC_000002.12:g.160126543G>C	gnomAD
ITGB6	P18564	p.Cys574Ter	rs888701114	stop gained	-	NC_000002.12:g.160126540G>T	TOPMed
ITGB6	P18564	p.Cys574Arg	rs772576883	missense variant	-	NC_000002.12:g.160126542A>G	ExAC,gnomAD
ITGB6	P18564	p.Asn575Lys	rs1395579738	missense variant	-	NC_000002.12:g.160126537G>T	gnomAD
ITGB6	P18564	p.Thr577Asn	rs762307594	missense variant	-	NC_000002.12:g.160126532G>T	ExAC,gnomAD
ITGB6	P18564	p.Thr578Asn	rs777059897	missense variant	-	NC_000002.12:g.160126529G>T	ExAC,gnomAD
ITGB6	P18564	p.Ser579Gly	rs1398209178	missense variant	-	NC_000002.12:g.160126527T>C	TOPMed
ITGB6	P18564	p.Thr580Lys	rs769022285	missense variant	-	NC_000002.12:g.160126523G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys583Trp	rs772152565	missense variant	-	NC_000002.12:g.160126513G>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val584Ile	rs770284828	missense variant	-	NC_000002.12:g.160126512C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser585Phe	rs756187131	missense variant	-	NC_000002.12:g.160126508G>A	ExAC,gnomAD
ITGB6	P18564	p.Val589Met	rs1292368259	missense variant	-	NC_000002.12:g.160126497C>T	TOPMed
ITGB6	P18564	p.Cys591Tyr	rs1487949347	missense variant	-	NC_000002.12:g.160126490C>T	TOPMed
ITGB6	P18564	p.Cys591Gly	rs781213934	missense variant	-	NC_000002.12:g.160126491A>C	ExAC
ITGB6	P18564	p.Ser592Arg	rs751270189	missense variant	-	NC_000002.12:g.160126486G>T	ExAC,gnomAD
ITGB6	P18564	p.Gly593Arg	rs200492977	missense variant	-	NC_000002.12:g.160126485C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg594Cys	rs1433404920	missense variant	-	NC_000002.12:g.160126482G>A	TOPMed,gnomAD
ITGB6	P18564	p.Arg594His	rs757977525	missense variant	-	NC_000002.12:g.160126481C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly595Arg	rs764735670	missense variant	-	NC_000002.12:g.160126479C>T	ExAC,gnomAD
ITGB6	P18564	p.Asp596Tyr	rs1376058943	missense variant	-	NC_000002.12:g.160126476C>A	gnomAD
ITGB6	P18564	p.Cys597Arg	rs1437600372	missense variant	-	NC_000002.12:g.160126473A>G	gnomAD
ITGB6	P18564	p.Gly600Asp	rs777145845	missense variant	-	NC_000002.12:g.160126463C>T	ExAC,gnomAD
ITGB6	P18564	p.Cys602Ser	rs764546149	missense variant	-	NC_000002.12:g.160126458A>T	ExAC,gnomAD
ITGB6	P18564	p.Cys604Gly	rs761142877	missense variant	-	NC_000002.12:g.160126452A>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr605Pro	rs1212478399	missense variant	-	NC_000002.12:g.160126449T>G	gnomAD
ITGB6	P18564	p.Thr605Ile	rs543986673	missense variant	-	NC_000002.12:g.160126448G>A	1000Genomes,gnomAD
ITGB6	P18564	p.Thr613Pro	rs775693403	missense variant	-	NC_000002.12:g.160126425T>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr613Ala	rs775693403	missense variant	-	NC_000002.12:g.160126425T>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg616Ter	rs730880297	stop gained	-	NC_000002.12:g.160126416G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg616Pro	rs144493660	missense variant	-	NC_000002.12:g.160126415C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg616Ter	RCV000157640	nonsense	Amelogenesis imperfecta, type IH (AI1H)	NC_000002.12:g.160126416G>A	ClinVar
ITGB6	P18564	p.Cys617Phe	rs771143977	missense variant	-	NC_000002.12:g.160126412C>A	ExAC,gnomAD
ITGB6	P18564	p.Cys617Gly	rs1188139931	missense variant	-	NC_000002.12:g.160126413A>C	TOPMed,gnomAD
ITGB6	P18564	p.Thr619Ile	rs749328795	missense variant	-	NC_000002.12:g.160126406G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr619Ala	rs1385780826	missense variant	-	NC_000002.12:g.160126407T>C	TOPMed
ITGB6	P18564	p.Asp622Asn	rs1310842796	missense variant	-	NC_000002.12:g.160126398C>T	TOPMed
ITGB6	P18564	p.Pro623His	rs768444834	missense variant	-	NC_000002.12:g.160126394G>T	ExAC,gnomAD
ITGB6	P18564	p.Cys624Ter	rs746882289	stop gained	-	NC_000002.12:g.160126390A>T	ExAC,gnomAD
ITGB6	P18564	p.Arg628Gln	rs1261784033	missense variant	-	NC_000002.12:g.160126379C>T	TOPMed,gnomAD
ITGB6	P18564	p.Arg628Gly	rs202195621	missense variant	-	NC_000002.12:g.160126380G>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg628Trp	rs202195621	missense variant	-	NC_000002.12:g.160126380G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg628Pro	rs1261784033	missense variant	-	NC_000002.12:g.160126379C>G	TOPMed,gnomAD
ITGB6	P18564	p.Ser629Gly	rs574352340	missense variant	-	NC_000002.12:g.160123887T>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ser629Asn	rs997117450	missense variant	-	NC_000002.12:g.160123886C>T	gnomAD
ITGB6	P18564	p.Ile631Thr	rs370714170	missense variant	-	NC_000002.12:g.160123880A>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu632Val	rs1321188375	missense variant	-	NC_000002.12:g.160123877T>A	gnomAD
ITGB6	P18564	p.His634Arg	rs150163379	missense variant	-	NC_000002.12:g.160123871T>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His634Tyr	rs142919023	missense variant	-	NC_000002.12:g.160123872G>A	ESP,ExAC,gnomAD
ITGB6	P18564	p.Leu635Pro	rs771235788	missense variant	-	NC_000002.12:g.160123868A>G	ExAC,gnomAD
ITGB6	P18564	p.Ala637Val	rs376329044	missense variant	-	NC_000002.12:g.160123862G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly639Asp	rs552791527	missense variant	-	NC_000002.12:g.160123856C>T	1000Genomes
ITGB6	P18564	p.Gly639Ser	rs773414491	missense variant	-	NC_000002.12:g.160123857C>T	ExAC,gnomAD
ITGB6	P18564	p.Arg642Ter	rs61737767	stop gained	-	NC_000002.12:g.160123848G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg642Gln	rs200145370	missense variant	-	NC_000002.12:g.160123847C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys645Arg	rs745623919	missense variant	-	NC_000002.12:g.160123839A>G	ExAC,gnomAD
ITGB6	P18564	p.Cys645Tyr	rs1441324615	missense variant	-	NC_000002.12:g.160123838C>T	gnomAD
ITGB6	P18564	p.Val646Met	rs778578823	missense variant	-	NC_000002.12:g.160123836C>T	ExAC,gnomAD
ITGB6	P18564	p.Asp647Gly	rs920657730	missense variant	-	NC_000002.12:g.160123832T>C	TOPMed,gnomAD
ITGB6	P18564	p.Lys648Asn	rs775754627	missense variant	-	NC_000002.12:g.160123828C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys648Gln	rs1411158973	missense variant	-	NC_000002.12:g.160123830T>G	TOPMed,gnomAD
ITGB6	P18564	p.Leu651Pro	rs753402565	missense variant	-	NC_000002.12:g.160123820A>G	ExAC,gnomAD
ITGB6	P18564	p.Ala652Val	rs887228629	missense variant	-	NC_000002.12:g.160123817G>A	gnomAD
ITGB6	P18564	p.Ala654Val	rs150971153	missense variant	-	NC_000002.12:g.160123811G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ala654Gly	rs150971153	missense variant	-	NC_000002.12:g.160123811G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr655Asn	rs768015188	missense variant	-	NC_000002.12:g.160123808G>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr655Ala	rs1469181840	missense variant	-	NC_000002.12:g.160123809T>C	gnomAD
ITGB6	P18564	p.Ser657Ile	rs755421198	missense variant	-	NC_000002.12:g.160123802C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu659Lys	rs751938984	missense variant	-	NC_000002.12:g.160123797C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu660Lys	rs1199919769	missense variant	-	NC_000002.12:g.160123794C>T	gnomAD
ITGB6	P18564	p.Asp661Val	rs1295424870	missense variant	-	NC_000002.12:g.160112199T>A	TOPMed
ITGB6	P18564	p.Phe662Ser	rs1315401429	missense variant	-	NC_000002.12:g.160112196A>G	gnomAD
ITGB6	P18564	p.Asp665Gly	rs1435834258	missense variant	-	NC_000002.12:g.160112187T>C	gnomAD
ITGB6	P18564	p.Gly666Asp	rs750633028	missense variant	-	NC_000002.12:g.160112184C>T	ExAC,gnomAD
ITGB6	P18564	p.Gly666Val	rs750633028	missense variant	-	NC_000002.12:g.160112184C>A	ExAC,gnomAD
ITGB6	P18564	p.Val668Ile	rs376470109	missense variant	-	NC_000002.12:g.160112179C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser669Pro	rs761842374	missense variant	-	NC_000002.12:g.160112176A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser669Thr	rs761842374	missense variant	-	NC_000002.12:g.160112176A>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Cys670Ter	rs776752490	stop gained	-	NC_000002.12:g.160112171G>T	ExAC,gnomAD
ITGB6	P18564	p.Ser671Phe	rs1474284689	missense variant	-	NC_000002.12:g.160112169G>A	gnomAD
ITGB6	P18564	p.Leu672Pro	rs1481294410	missense variant	-	NC_000002.12:g.160112166A>G	gnomAD
ITGB6	P18564	p.Gln673Lys	rs1188718105	missense variant	-	NC_000002.12:g.160112164G>T	gnomAD
ITGB6	P18564	p.Gly674Arg	rs200660753	missense variant	-	NC_000002.12:g.160112161C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly674Glu	rs964592128	missense variant	-	NC_000002.12:g.160112160C>T	TOPMed,gnomAD
ITGB6	P18564	p.Cys678Arg	rs1217745574	missense variant	-	NC_000002.12:g.160112149A>G	gnomAD
ITGB6	P18564	p.Leu679Val	rs774204391	missense variant	-	NC_000002.12:g.160112146G>C	ExAC,gnomAD
ITGB6	P18564	p.Phe682Leu	rs1191570106	missense variant	-	NC_000002.12:g.160112135G>T	TOPMed
ITGB6	P18564	p.Leu683Pro	rs749058952	missense variant	-	NC_000002.12:g.160112133A>G	ExAC,gnomAD
ITGB6	P18564	p.Thr685Ile	rs772770914	missense variant	-	NC_000002.12:g.160112127G>A	ExAC,gnomAD
ITGB6	P18564	p.Thr686Lys	rs1398818207	missense variant	-	NC_000002.12:g.160112124G>T	gnomAD
ITGB6	P18564	p.Asp687Tyr	rs747659835	missense variant	-	NC_000002.12:g.160112122C>A	ExAC,gnomAD
ITGB6	P18564	p.Asn688Ser	rs1260897929	missense variant	-	NC_000002.12:g.160112118T>C	TOPMed
ITGB6	P18564	p.Glu689Gln	rs1190490436	missense variant	-	NC_000002.12:g.160112116C>G	TOPMed
ITGB6	P18564	p.Glu689Asp	rs1164506403	missense variant	-	NC_000002.12:g.160112114C>A	gnomAD
ITGB6	P18564	p.Gly690Arg	rs1460115362	missense variant	-	NC_000002.12:g.160112113C>T	gnomAD
ITGB6	P18564	p.Gly690Glu	rs754473547	missense variant	-	NC_000002.12:g.160112112C>T	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys691Glu	rs1165829377	missense variant	-	NC_000002.12:g.160112110T>C	gnomAD
ITGB6	P18564	p.Ile693Val	rs1427977643	missense variant	-	NC_000002.12:g.160112104T>C	gnomAD
ITGB6	P18564	p.Ile694Phe	rs139804091	missense variant	-	NC_000002.12:g.160112101T>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile694Leu	rs139804091	missense variant	-	NC_000002.12:g.160112101T>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ile694Val	rs139804091	missense variant	-	NC_000002.12:g.160112101T>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser696Arg	rs1252096609	missense variant	-	NC_000002.12:g.160112095T>G	gnomAD
ITGB6	P18564	p.Ile697Ser	rs1233486573	missense variant	-	NC_000002.12:g.160112091A>C	gnomAD
ITGB6	P18564	p.Asn698Ile	rs577005383	missense variant	-	NC_000002.12:g.160112088T>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Asn698Asp	rs779056066	missense variant	-	NC_000002.12:g.160112089T>C	ExAC
ITGB6	P18564	p.Asn698Ser	rs577005383	missense variant	-	NC_000002.12:g.160112088T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu699Gly	rs764161553	missense variant	-	NC_000002.12:g.160112085T>C	ExAC,gnomAD
ITGB6	P18564	p.Glu699Asp	rs1360357955	missense variant	-	NC_000002.12:g.160112084T>G	TOPMed
ITGB6	P18564	p.Glu699Ter	rs753934656	stop gained	-	NC_000002.12:g.160112086C>A	ExAC,gnomAD
ITGB6	P18564	p.Lys700Glu	rs895658072	missense variant	-	NC_000002.12:g.160112083T>C	TOPMed,gnomAD
ITGB6	P18564	p.Pro703Arg	rs369122182	missense variant	-	NC_000002.12:g.160107839G>C	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro703Leu	rs369122182	missense variant	-	NC_000002.12:g.160107839G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Pro705Thr	rs777918545	missense variant	-	NC_000002.12:g.160107834G>T	ExAC,gnomAD
ITGB6	P18564	p.Pro705Ala	rs777918545	missense variant	-	NC_000002.12:g.160107834G>C	ExAC,gnomAD
ITGB6	P18564	p.Pro706Ala	rs756213093	missense variant	-	NC_000002.12:g.160107831G>C	ExAC,gnomAD
ITGB6	P18564	p.Asn707Asp	rs377135299	missense variant	-	NC_000002.12:g.160107828T>C	ESP,ExAC,gnomAD
ITGB6	P18564	p.Asn707Ile	rs766351579	missense variant	-	NC_000002.12:g.160107827T>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Met710Arg	rs1416979649	missense variant	-	NC_000002.12:g.160107818A>C	TOPMed,gnomAD
ITGB6	P18564	p.Met710Thr	rs1416979649	missense variant	-	NC_000002.12:g.160107818A>G	TOPMed,gnomAD
ITGB6	P18564	p.Met710Val	rs1159479045	missense variant	-	NC_000002.12:g.160107819T>C	TOPMed
ITGB6	P18564	p.Ile711Val	rs372646338	missense variant	-	NC_000002.12:g.160107816T>C	ESP,ExAC,gnomAD
ITGB6	P18564	p.Ile711Thr	rs750251062	missense variant	-	NC_000002.12:g.160107815A>G	ExAC,gnomAD
ITGB6	P18564	p.Met712Thr	rs367865998	missense variant	-	NC_000002.12:g.160107812A>G	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu713Val	rs1280244580	missense variant	-	NC_000002.12:g.160107810A>C	gnomAD
ITGB6	P18564	p.Gly714Arg	rs757207082	missense variant	-	NC_000002.12:g.160107807C>T	ExAC,gnomAD
ITGB6	P18564	p.Val715Ile	rs776455815	missense variant	-	NC_000002.12:g.160107804C>T	ExAC
ITGB6	P18564	p.Val715Asp	rs573911717	missense variant	-	NC_000002.12:g.160107803A>T	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Val715Gly	rs573911717	missense variant	-	NC_000002.12:g.160107803A>C	1000Genomes,ExAC,gnomAD
ITGB6	P18564	p.Ser716Phe	rs775131133	missense variant	-	NC_000002.12:g.160107800G>A	ExAC,gnomAD
ITGB6	P18564	p.Ala718Pro	rs979599332	missense variant	-	NC_000002.12:g.160107795C>G	TOPMed
ITGB6	P18564	p.Ala718Thr	rs979599332	missense variant	-	NC_000002.12:g.160107795C>T	TOPMed
ITGB6	P18564	p.Ile719Val	rs1374016397	missense variant	-	NC_000002.12:g.160107792T>C	TOPMed
ITGB6	P18564	p.Leu721Pro	rs1238745539	missense variant	-	NC_000002.12:g.160107785A>G	gnomAD
ITGB6	P18564	p.Gly723Arg	rs966484703	missense variant	-	NC_000002.12:g.160107780C>G	TOPMed,gnomAD
ITGB6	P18564	p.Val724Phe	rs146397669	missense variant	-	NC_000002.12:g.160107777C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val724Leu	rs146397669	missense variant	-	NC_000002.12:g.160107777C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Val724Ile	rs146397669	missense variant	-	NC_000002.12:g.160107777C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu727Arg	rs749610054	missense variant	-	NC_000002.12:g.160107767A>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Trp730Cys	rs778009963	missense variant	-	NC_000002.12:g.160107757C>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Leu732Val	rs1256164920	missense variant	-	NC_000002.12:g.160107753G>C	TOPMed
ITGB6	P18564	p.Val734Met	rs374327754	missense variant	-	NC_000002.12:g.160107747C>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser735Pro	rs781242094	missense variant	-	NC_000002.12:g.160107744A>G	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His737Arg	rs754956643	missense variant	-	NC_000002.12:g.160107737T>C	ExAC,gnomAD
ITGB6	P18564	p.Asp738Gly	rs1486964947	missense variant	-	NC_000002.12:g.160107734T>C	gnomAD
ITGB6	P18564	p.Asp738Tyr	rs1189425088	missense variant	-	NC_000002.12:g.160107735C>A	gnomAD
ITGB6	P18564	p.Arg739Cys	rs750398020	missense variant	-	NC_000002.12:g.160107732G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg739Leu	rs757115141	missense variant	-	NC_000002.12:g.160107731C>A	ExAC,gnomAD
ITGB6	P18564	p.Arg739Pro	rs757115141	missense variant	-	NC_000002.12:g.160107731C>G	ExAC,gnomAD
ITGB6	P18564	p.Arg739His	rs757115141	missense variant	-	NC_000002.12:g.160107731C>T	ExAC,gnomAD
ITGB6	P18564	p.Arg739Gly	rs750398020	missense variant	-	NC_000002.12:g.160107732G>C	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Glu741Val	rs753667027	missense variant	-	NC_000002.12:g.160107725T>A	ExAC,gnomAD
ITGB6	P18564	p.Lys744Asn	rs760403120	missense variant	-	NC_000002.12:g.160107715T>A	ExAC,gnomAD
ITGB6	P18564	p.Glu746Asp	rs1416692961	missense variant	-	NC_000002.12:g.160107709T>G	TOPMed,gnomAD
ITGB6	P18564	p.Arg749Ter	rs199651918	stop gained	-	NC_000002.12:g.160107702G>A	ExAC,gnomAD
ITGB6	P18564	p.Arg749Gln	rs540109604	missense variant	-	NC_000002.12:g.160107701C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Ser750Thr	rs771306762	missense variant	-	NC_000002.12:g.160107699A>T	ExAC,gnomAD
ITGB6	P18564	p.Trp754Arg	rs773552663	missense variant	-	NC_000002.12:g.160107687A>T	ExAC,gnomAD
ITGB6	P18564	p.Thr756Met	rs150867142	missense variant	-	NC_000002.12:g.160107680G>A	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Thr756Lys	rs150867142	missense variant	-	NC_000002.12:g.160107680G>T	ESP,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Gly757Arg	rs747175115	missense variant	-	NC_000002.12:g.160101834C>T	ExAC,gnomAD
ITGB6	P18564	p.Pro760Ser	rs772215000	missense variant	-	NC_000002.12:g.160101825G>A	ExAC,gnomAD
ITGB6	P18564	p.Pro760Thr	rs772215000	missense variant	-	NC_000002.12:g.160101825G>T	ExAC,gnomAD
ITGB6	P18564	p.Tyr762Cys	rs777800965	missense variant	-	NC_000002.12:g.160101818T>C	ExAC,gnomAD
ITGB6	P18564	p.Tyr762His	rs1320721685	missense variant	-	NC_000002.12:g.160101819A>G	TOPMed
ITGB6	P18564	p.Gly764Ala	rs756002087	missense variant	-	NC_000002.12:g.160101812C>G	ExAC,gnomAD
ITGB6	P18564	p.Thr766Ile	rs754573154	missense variant	-	NC_000002.12:g.160101806G>A	ExAC,gnomAD
ITGB6	P18564	p.Thr766Ala	rs1274695997	missense variant	-	NC_000002.12:g.160101807T>C	TOPMed
ITGB6	P18564	p.Thr768Ile	rs751147195	missense variant	-	NC_000002.12:g.160101800G>A	ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Lys770Gln	rs1434516613	missense variant	-	NC_000002.12:g.160101795T>G	gnomAD
ITGB6	P18564	p.Thr773Asn	rs765876600	missense variant	-	NC_000002.12:g.160101785G>T	ExAC,gnomAD
ITGB6	P18564	p.Tyr774Cys	rs762389754	missense variant	-	NC_000002.12:g.160101782T>C	ExAC,gnomAD
ITGB6	P18564	p.Lys775Ter	rs201494177	stop gained	-	NC_000002.12:g.160101780T>A	ESP,ExAC,gnomAD
ITGB6	P18564	p.Lys775Asn	rs765704356	missense variant	-	NC_000002.12:g.160101778T>A	ExAC,gnomAD
ITGB6	P18564	p.His776Pro	rs540706226	missense variant	-	NC_000002.12:g.160101776T>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.His776Arg	rs540706226	missense variant	-	NC_000002.12:g.160101776T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB6	P18564	p.Arg777Ser	rs1275269809	missense variant	-	NC_000002.12:g.160101772C>G	gnomAD
ITGB6	P18564	p.Gln780Arg	rs1210024151	missense variant	-	NC_000002.12:g.160101764T>C	gnomAD
ITGB6	P18564	p.Val782Ile	rs760815776	missense variant	-	NC_000002.12:g.160101759C>T	ExAC,gnomAD
ITGB6	P18564	p.Asp783Glu	rs1349576201	missense variant	-	NC_000002.12:g.160101754G>T	gnomAD
ITGB6	P18564	p.Asp783Asn	rs775725788	missense variant	-	NC_000002.12:g.160101756C>T	ExAC,gnomAD
ITGB6	P18564	p.Leu784Ile	rs1277349276	missense variant	-	NC_000002.12:g.160101753G>T	gnomAD
ITGB6	P18564	p.Ser785Pro	rs1350520068	missense variant	-	NC_000002.12:g.160101750A>G	gnomAD
ITGB6	P18564	p.Asp787Gly	rs1246721689	missense variant	-	NC_000002.12:g.160101743T>C	TOPMed
ITGB6	P18564	p.Cys788Trp	rs745899695	missense variant	-	NC_000002.12:g.160101739G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg3Gly	rs761151029	missense variant	-	NC_000018.10:g.28177016G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg3Gln	rs1323181717	missense variant	-	NC_000018.10:g.28177015C>T	TOPMed
CDH2	P19022	p.Arg3Trp	rs761151029	missense variant	-	NC_000018.10:g.28177016G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala5Val	rs1284853215	missense variant	-	NC_000018.10:g.28177009G>A	TOPMed,gnomAD
CDH2	P19022	p.Leu8Val	rs1369360558	missense variant	-	NC_000018.10:g.28177001G>C	TOPMed,gnomAD
CDH2	P19022	p.Leu8Pro	rs1293733346	missense variant	-	NC_000018.10:g.28177000A>G	gnomAD
CDH2	P19022	p.Arg9Trp	rs1403830213	missense variant	-	NC_000018.10:g.28176998G>A	TOPMed,gnomAD
CDH2	P19022	p.Arg9Gly	rs1403830213	missense variant	-	NC_000018.10:g.28176998G>C	TOPMed,gnomAD
CDH2	P19022	p.Thr10Asn	rs773400550	missense variant	-	NC_000018.10:g.28176994G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr10Pro	rs879030779	missense variant	-	NC_000018.10:g.28176995T>G	TOPMed,gnomAD
CDH2	P19022	p.Thr10Ile	rs773400550	missense variant	-	NC_000018.10:g.28176994G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr10Ser	rs879030779	missense variant	-	NC_000018.10:g.28176995T>A	TOPMed,gnomAD
CDH2	P19022	p.Thr10Ala	rs879030779	missense variant	-	NC_000018.10:g.28176995T>C	TOPMed,gnomAD
CDH2	P19022	p.Pro13Leu	rs1363152842	missense variant	-	NC_000018.10:g.28176985G>A	TOPMed,gnomAD
CDH2	P19022	p.Pro13Ser	rs1420154381	missense variant	-	NC_000018.10:g.28176986G>A	TOPMed,gnomAD
CDH2	P19022	p.Leu14Pro	rs1434663670	missense variant	-	NC_000018.10:g.28176982A>G	gnomAD
CDH2	P19022	p.Ala16Val	rs1490213867	missense variant	-	NC_000018.10:g.28176976G>A	TOPMed,gnomAD
CDH2	P19022	p.Ala16Thr	rs1456038030	missense variant	-	NC_000018.10:g.28176977C>T	TOPMed
CDH2	P19022	p.Ala17Val	rs1219438806	missense variant	-	NC_000018.10:g.28176973G>A	TOPMed,gnomAD
CDH2	P19022	p.Leu19Phe	rs1214159271	missense variant	-	NC_000018.10:g.28176968G>A	gnomAD
CDH2	P19022	p.Gln20His	rs1332308156	missense variant	-	NC_000018.10:g.28176963C>A	TOPMed
CDH2	P19022	p.Ala21Glu	rs751608409	missense variant	-	NC_000018.10:g.28147783G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala21Thr	rs17495042	missense variant	-	NC_000018.10:g.28147784C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala21Val	rs751608409	missense variant	-	NC_000018.10:g.28147783G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser22SerAlaTyrAsnTerAsn	NCI-TCGA novel	stop gained	-	NC_000018.10:g.28147779_28147780insTTCTAATTGTAAGCACTT	NCI-TCGA
CDH2	P19022	p.Val23Ala	rs201041020	missense variant	-	NC_000018.10:g.28147777A>G	TOPMed
CDH2	P19022	p.Val23Leu	rs755151089	missense variant	-	NC_000018.10:g.28147778C>G	ExAC,gnomAD
CDH2	P19022	p.Glu24Gln	rs146386375	missense variant	-	NC_000018.10:g.28147775C>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser26Phe	rs766647206	missense variant	-	NC_000018.10:g.28147768G>A	ExAC,gnomAD
CDH2	P19022	p.Gly27Val	COSM6083208	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28147765C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Gly27Ser	rs1462592216	missense variant	-	NC_000018.10:g.28147766C>T	gnomAD
CDH2	P19022	p.Ile29Asn	rs1372513645	missense variant	-	NC_000018.10:g.28147759A>T	gnomAD
CDH2	P19022	p.Ala30Thr	rs200711868	missense variant	-	NC_000018.10:g.28147757C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Cys32Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28147750C>T	NCI-TCGA
CDH2	P19022	p.Lys33Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28147746C>A	NCI-TCGA
CDH2	P19022	p.Lys33Ter	COSM1388207	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.28147748T>A	NCI-TCGA Cosmic
CDH2	P19022	p.Lys33Glu	rs201462293	missense variant	-	NC_000018.10:g.28147748T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro37Leu	rs774902934	missense variant	-	NC_000018.10:g.28147735G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu38Lys	rs1274623800	missense variant	-	NC_000018.10:g.28147733C>T	TOPMed
CDH2	P19022	p.Asp39Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28147730C>T	NCI-TCGA
CDH2	P19022	p.Asp39Glu	rs879180473	missense variant	-	NC_000018.10:g.28147728A>T	TOPMed
CDH2	P19022	p.Asp39Val	rs769118218	missense variant	-	NC_000018.10:g.28147729T>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp39Gly	rs769118218	missense variant	-	NC_000018.10:g.28147729T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val40Ile	rs1197088956	missense variant	-	NC_000018.10:g.28147727C>T	TOPMed
CDH2	P19022	p.TyrSer41Ter	rs757055934	stop gained	-	NC_000018.10:g.28147722_28147723del	ExAC,gnomAD
CDH2	P19022	p.Val44Phe	rs1246347582	missense variant	-	NC_000018.10:g.28147715C>A	gnomAD
CDH2	P19022	p.Val44Ala	rs774927665	missense variant	-	NC_000018.10:g.28147714A>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser46Leu	rs780887307	missense variant	-	NC_000018.10:g.28147708G>A	ExAC,gnomAD
CDH2	P19022	p.His50Arg	rs1026380265	missense variant	-	NC_000018.10:g.28147696T>C	TOPMed,gnomAD
CDH2	P19022	p.His50Tyr	rs150672295	missense variant	-	NC_000018.10:g.28147697G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu51Asp	COSM1172540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28147692T>G	NCI-TCGA Cosmic
CDH2	P19022	p.Gly52Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.28147691C>A	NCI-TCGA
CDH2	P19022	p.Gly52Glu	COSM4071678	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28147690C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Leu56Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28147679G>T	NCI-TCGA
CDH2	P19022	p.Leu56Phe	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28147679G>A	NCI-TCGA
CDH2	P19022	p.Asn57Ser	rs1459488007	missense variant	-	NC_000018.10:g.28147675T>C	gnomAD
CDH2	P19022	p.Lys59Thr	COSM4071677	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28013906T>G	NCI-TCGA Cosmic
CDH2	P19022	p.Ser61Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28013901T>A	NCI-TCGA
CDH2	P19022	p.Asn64His	rs202205175	missense variant	-	NC_000018.10:g.28013892T>G	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asn64Ser	rs779271742	missense variant	-	NC_000018.10:g.28013891T>C	ExAC,gnomAD
CDH2	P19022	p.Gly65Glu	rs1357817564	missense variant	-	NC_000018.10:g.28013888C>T	TOPMed
CDH2	P19022	p.Lys66Glu	rs201274796	missense variant	-	NC_000018.10:g.28013886T>C	ExAC,gnomAD
CDH2	P19022	p.Arg67Ile	rs766988186	missense variant	-	NC_000018.10:g.28013882C>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val69Ile	rs755723588	missense variant	-	NC_000018.10:g.28013877C>T	ExAC,gnomAD
CDH2	P19022	p.Gln70Glu	rs1372835307	missense variant	-	NC_000018.10:g.28013874G>C	TOPMed
CDH2	P19022	p.Glu72Asp	COSM3422104	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28013866C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Glu72Gln	COSM3796339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28013868C>G	NCI-TCGA Cosmic
CDH2	P19022	p.Glu72Lys	rs1290280143	missense variant	-	NC_000018.10:g.28013868C>T	TOPMed
CDH2	P19022	p.Glu75Lys	rs1431697220	missense variant	-	NC_000018.10:g.28013859C>T	TOPMed,gnomAD
CDH2	P19022	p.Ala77Thr	rs767296927	missense variant	-	NC_000018.10:g.28013853C>T	ExAC,gnomAD
CDH2	P19022	p.Asp78Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28013850C>A	NCI-TCGA
CDH2	P19022	p.Asp78Asn	rs763887861	missense variant	-	NC_000018.10:g.28013850C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp78His	rs763887861	missense variant	-	NC_000018.10:g.28013850C>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val81Met	rs1237757504	missense variant	-	NC_000018.10:g.28013841C>T	TOPMed
CDH2	P19022	p.Asp82Glu	rs762655258	missense variant	-	NC_000018.10:g.28013836A>T	ExAC,gnomAD
CDH2	P19022	p.Glu83Gly	rs376492579	missense variant	-	NC_000018.10:g.28013834T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp84Gly	rs373421991	missense variant	-	NC_000018.10:g.28013831T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly85Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28013828C>T	NCI-TCGA
CDH2	P19022	p.Gly85Val	COSM6148963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28013828C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Met86Thr	rs773237462	missense variant	-	NC_000018.10:g.28013825A>G	ExAC,gnomAD
CDH2	P19022	p.Val90Leu	rs778990479	missense variant	-	NC_000018.10:g.28013814C>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val90Met	rs778990479	missense variant	-	NC_000018.10:g.28013814C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg91Ile	COSM987345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28013810C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Ser92Arg	rs188546474	missense variant	-	NC_000018.10:g.28013806G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser92Gly	rs150017015	missense variant	-	NC_000018.10:g.28013808T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro94Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28013802G>A	NCI-TCGA
CDH2	P19022	p.Pro94Leu	rs756638795	missense variant	-	NC_000018.10:g.28013801G>A	ExAC,gnomAD
CDH2	P19022	p.Leu95Val	rs1354225874	missense variant	-	NC_000018.10:g.28013799G>C	TOPMed
CDH2	P19022	p.Ser96Phe	rs1361176600	missense variant	-	NC_000018.10:g.28013795G>A	gnomAD
CDH2	P19022	p.His99Arg	rs113785794	missense variant	-	NC_000018.10:g.28013786T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.His99Tyr	rs562222525	missense variant	-	NC_000018.10:g.28013787G>A	ExAC,gnomAD
CDH2	P19022	p.Ala100Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28013783G>T	NCI-TCGA
CDH2	P19022	p.Lys101Asn	rs1404361272	missense variant	-	NC_000018.10:g.28013779C>A	TOPMed
CDH2	P19022	p.Phe102Ser	COSM708202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28013777A>G	NCI-TCGA Cosmic
CDH2	P19022	p.Leu103Val	rs1274222569	missense variant	-	NC_000018.10:g.28013775G>C	TOPMed
CDH2	P19022	p.Ile104Thr	rs1177369468	missense variant	-	NC_000018.10:g.28013771A>G	gnomAD
CDH2	P19022	p.Ala106Thr	rs1469377111	missense variant	-	NC_000018.10:g.28013766C>T	gnomAD
CDH2	P19022	p.Gln107Glu	rs756870194	missense variant	-	NC_000018.10:g.28013763G>C	ExAC,gnomAD
CDH2	P19022	p.Asp108Tyr	rs751296292	missense variant	-	NC_000018.10:g.28013760C>A	ExAC,gnomAD
CDH2	P19022	p.Lys109Arg	rs1429699775	missense variant	-	NC_000018.10:g.28013756T>C	gnomAD
CDH2	P19022	p.Glu110Gln	rs552668002	missense variant	-	NC_000018.10:g.28013754C>G	NCI-TCGA
CDH2	P19022	p.Glu110Ala	COSM1388206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28013753T>G	NCI-TCGA Cosmic
CDH2	P19022	p.Glu110Gln	rs552668002	missense variant	-	NC_000018.10:g.28013754C>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr111Asn	rs762857696	missense variant	-	NC_000018.10:g.28013750G>T	ExAC
CDH2	P19022	p.Gln112Pro	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28013747T>G	NCI-TCGA
CDH2	P19022	p.Gln112Arg	rs368957587	missense variant	-	NC_000018.10:g.28013747T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Trp115Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28013738C>A	NCI-TCGA
CDH2	P19022	p.Ala118Thr	rs17445840	missense variant	-	NC_000018.10:g.28013730C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Leu121Phe	rs374765506	missense variant	-	NC_000018.10:g.28013719C>G	ExAC,gnomAD
CDH2	P19022	p.Lys124Thr	rs749692083	missense variant	-	NC_000018.10:g.28013711T>G	ExAC,gnomAD
CDH2	P19022	p.Thr126Ile	rs770426519	missense variant	-	NC_000018.10:g.28013705G>A	ExAC,gnomAD
CDH2	P19022	p.Leu127Phe	rs971731737	missense variant	-	NC_000018.10:g.28013701T>G	TOPMed,gnomAD
CDH2	P19022	p.Leu127Ter	rs1197514285	stop gained	-	NC_000018.10:g.28013702A>C	TOPMed
CDH2	P19022	p.Leu127Val	rs781533778	missense variant	-	NC_000018.10:g.28013703A>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr128Pro	rs751016097	missense variant	-	NC_000018.10:g.28013700T>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr128Ile	rs199902980	missense variant	-	NC_000018.10:g.28013699G>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr128Ala	rs751016097	missense variant	-	NC_000018.10:g.28013700T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr128Ser	rs751016097	missense variant	-	NC_000018.10:g.28013700T>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr128Ser	rs199902980	missense variant	-	NC_000018.10:g.28013699G>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu129Lys	rs963079228	missense variant	-	NC_000018.10:g.28013697C>T	TOPMed
CDH2	P19022	p.Glu129Lys	rs963079228	missense variant	-	NC_000018.10:g.28013697C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Ser131Leu	rs202040611	missense variant	-	NC_000018.10:g.28013690G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser131Pro	rs183606230	missense variant	-	NC_000018.10:g.28013691A>G	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val132Met	rs759313084	missense variant	-	NC_000018.10:g.28013688C>T	ExAC,gnomAD
CDH2	P19022	p.Lys133Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28013683C>A	NCI-TCGA
CDH2	P19022	p.Lys133Arg	rs980711081	missense variant	-	NC_000018.10:g.28013684T>C	TOPMed,gnomAD
CDH2	P19022	p.Glu134Val	rs202032913	missense variant	-	NC_000018.10:g.28011991T>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser135Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.28011988G>T	NCI-TCGA
CDH2	P19022	p.Ala136Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28011986C>A	NCI-TCGA
CDH2	P19022	p.Glu137Val	rs1396498254	missense variant	-	NC_000018.10:g.28011982T>A	TOPMed
CDH2	P19022	p.Glu137Lys	rs1248902182	missense variant	-	NC_000018.10:g.28011983C>T	gnomAD
CDH2	P19022	p.Val138Asp	rs1393606084	missense variant	-	NC_000018.10:g.28011979A>T	TOPMed
CDH2	P19022	p.Val138Ile	rs1306883724	missense variant	-	NC_000018.10:g.28011980C>T	TOPMed
CDH2	P19022	p.Glu139Lys	rs1393676210	missense variant	-	NC_000018.10:g.28011977C>T	TOPMed
CDH2	P19022	p.Glu140Ter	COSM2808403	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.28011974C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Val142Ala	rs1315829375	missense variant	-	NC_000018.10:g.28011967A>G	gnomAD
CDH2	P19022	p.Arg145Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28011958C>T	NCI-TCGA
CDH2	P19022	p.Arg145Gly	rs755964535	missense variant	-	NC_000018.10:g.28011959T>C	ExAC,gnomAD
CDH2	P19022	p.Phe147Ser	rs1352509680	missense variant	-	NC_000018.10:g.28011952A>G	gnomAD
CDH2	P19022	p.Ser148Asn	rs764209293	missense variant	-	NC_000018.10:g.28011949C>T	ExAC,gnomAD
CDH2	P19022	p.Lys149Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28011945C>A	NCI-TCGA
CDH2	P19022	p.Lys149Thr	rs554270276	missense variant	-	NC_000018.10:g.28011946T>G	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Ser151Arg	rs765538223	missense variant	-	NC_000018.10:g.28011941T>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser151Gly	rs765538223	missense variant	-	NC_000018.10:g.28011941T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.His153Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28011935G>A	NCI-TCGA
CDH2	P19022	p.Arg156Met	COSM1388205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28011925C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Arg159Gly	COSM4941798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28011917T>C	NCI-TCGA Cosmic
CDH2	P19022	p.Trp161Ter	rs1395522862	stop gained	-	NC_000018.10:g.28011910C>T	gnomAD
CDH2	P19022	p.Pro169Leu	rs79870170	missense variant	-	NC_000018.10:g.28011886G>A	gnomAD
CDH2	P19022	p.Pro169Gln	rs79870170	missense variant	-	NC_000018.10:g.28011886G>T	gnomAD
CDH2	P19022	p.Ser172Pro	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28011878A>G	NCI-TCGA
CDH2	P19022	p.Ser172Phe	rs773758651	missense variant	-	NC_000018.10:g.28011877G>A	ExAC,gnomAD
CDH2	P19022	p.Gly174Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28011871C>A	NCI-TCGA
CDH2	P19022	p.Pro175Ser	rs574618454	missense variant	-	NC_000018.10:g.28011869G>A	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Pro177His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28011862G>T	NCI-TCGA
CDH2	P19022	p.Gln178Ter	COSM473718	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.28011860G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Val181Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28011851C>T	NCI-TCGA
CDH2	P19022	p.Arg182Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28011846C>A	NCI-TCGA
CDH2	P19022	p.Arg187Thr	COSM3821288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28009859C>G	NCI-TCGA Cosmic
CDH2	P19022	p.Asp188Glu	rs1188836783	missense variant	-	NC_000018.10:g.28009855A>C	gnomAD
CDH2	P19022	p.Lys189Glu	rs1342149311	missense variant	-	NC_000018.10:g.28009854T>C	gnomAD
CDH2	P19022	p.Leu191Ile	rs201863564	missense variant	-	NC_000018.10:g.28009848G>T	ExAC,gnomAD
CDH2	P19022	p.Arg194Gln	rs773733261	missense variant	-	NC_000018.10:g.28009838C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg194Trp	rs1228174771	missense variant	-	NC_000018.10:g.28009839G>A	TOPMed,gnomAD
CDH2	P19022	p.Ser196Thr	rs1041970	missense variant	-	NC_000018.10:g.28009832C>G	UniProt,dbSNP
CDH2	P19022	p.Ser196Thr	VAR_028256	missense variant	-	NC_000018.10:g.28009832C>G	UniProt
CDH2	P19022	p.Ser196Thr	rs1041970	missense variant	-	NC_000018.10:g.28009832C>G	-
CDH2	P19022	p.Gly199Val	COSM6083212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28009823C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Gly201Val	COSM708205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28009817C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Gly201Ala	COSM708204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28009817C>G	NCI-TCGA Cosmic
CDH2	P19022	p.Ala202Val	rs779081435	missense variant	-	NC_000018.10:g.28009814G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp203Glu	rs1411133816	missense variant	-	NC_000018.10:g.28009810G>T	gnomAD
CDH2	P19022	p.Gln204Glu	rs754074697	missense variant	-	NC_000018.10:g.28009809G>C	ExAC,gnomAD
CDH2	P19022	p.Pro205Leu	rs766594147	missense variant	-	NC_000018.10:g.28009805G>A	ExAC,gnomAD
CDH2	P19022	p.Pro205Ser	rs566720668	missense variant	-	NC_000018.10:g.28009806G>A	1000Genomes
CDH2	P19022	p.Pro206Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28009803G>T	NCI-TCGA
CDH2	P19022	p.Thr207Asn	rs1386798655	missense variant	-	NC_000018.10:g.28009799G>T	gnomAD
CDH2	P19022	p.Thr207Ser	rs150141832	missense variant	-	NC_000018.10:g.28009800T>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr207Ala	rs150141832	missense variant	-	NC_000018.10:g.28009800T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly208Ser	COSM5933695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28009797C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Phe210Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28009789G>T	NCI-TCGA
CDH2	P19022	p.Ile212Leu	rs1041972	missense variant	-	NC_000018.10:g.28009785T>G	UniProt,dbSNP
CDH2	P19022	p.Ile212Leu	VAR_028257	missense variant	-	NC_000018.10:g.28009785T>G	UniProt
CDH2	P19022	p.Ile212Leu	rs1041972	missense variant	-	NC_000018.10:g.28009785T>G	-
CDH2	P19022	p.Asn213Ser	rs1445536352	missense variant	-	NC_000018.10:g.28009781T>C	TOPMed,gnomAD
CDH2	P19022	p.Pro214His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28009778G>T	NCI-TCGA
CDH2	P19022	p.Pro214Ser	COSM3524717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28009779G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Pro214Ala	rs762240435	missense variant	-	NC_000018.10:g.28009779G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser216Leu	rs199664916	missense variant	-	NC_000018.10:g.28009772G>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser220Leu	rs199534055	missense variant	-	NC_000018.10:g.28009760G>A	ExAC,gnomAD
CDH2	P19022	p.Thr222Ile	rs1257768241	missense variant	-	NC_000018.10:g.28009754G>A	TOPMed
CDH2	P19022	p.Pro224Thr	rs1340647299	missense variant	-	NC_000018.10:g.28009749G>T	gnomAD
CDH2	P19022	p.Asp226Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28009743C>T	NCI-TCGA
CDH2	P19022	p.Arg227His	rs769462371	missense variant	-	NC_000018.10:g.28009739C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg227Cys	rs997137643	missense variant	-	NC_000018.10:g.28009740G>A	TOPMed,gnomAD
CDH2	P19022	p.Gln229Glu	rs781072123	missense variant	-	NC_000018.10:g.28009734G>C	ExAC,gnomAD
CDH2	P19022	p.Gln229Arg	rs965753331	missense variant	-	NC_000018.10:g.28009733T>C	gnomAD
CDH2	P19022	p.Ala231Ser	rs747002190	missense variant	-	NC_000018.10:g.28009728C>A	ExAC,gnomAD
CDH2	P19022	p.Arg232Trp	rs202029952	missense variant	-	NC_000018.10:g.28009725G>A	ExAC,gnomAD
CDH2	P19022	p.Arg232Gln	rs753933914	missense variant	-	NC_000018.10:g.28009724C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg232Gly	rs202029952	missense variant	-	NC_000018.10:g.28009725G>C	ExAC,gnomAD
CDH2	P19022	p.His234Arg	rs1413369773	missense variant	-	NC_000018.10:g.28009718T>C	gnomAD
CDH2	P19022	p.Ala237Ser	rs1192216323	missense variant	-	NC_000018.10:g.28005987C>A	gnomAD
CDH2	P19022	p.His238Arg	COSM987342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28005983T>C	NCI-TCGA Cosmic
CDH2	P19022	p.Ala239Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28005981C>A	NCI-TCGA
CDH2	P19022	p.Asp241Glu	rs565814282	missense variant	-	NC_000018.10:g.28005973A>T	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Gln246Ter	COSM987341	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.28005960G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Gln246His	rs1245403455	missense variant	-	NC_000018.10:g.28005958T>A	TOPMed,gnomAD
CDH2	P19022	p.Ile251Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28005944A>G	NCI-TCGA
CDH2	P19022	p.Ile251Val	rs1329481665	missense variant	-	NC_000018.10:g.28005945T>C	gnomAD
CDH2	P19022	p.Ile253Val	rs751897139	missense variant	-	NC_000018.10:g.28005939T>C	ExAC,gnomAD
CDH2	P19022	p.Asn256Ser	rs1465038852	missense variant	-	NC_000018.10:g.28005929T>C	TOPMed
CDH2	P19022	p.Asn256Lys	rs878882795	missense variant	-	NC_000018.10:g.28005928A>T	TOPMed
CDH2	P19022	p.Met260Leu	rs1409622589	missense variant	-	NC_000018.10:g.28005918T>A	TOPMed
CDH2	P19022	p.Asp262Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28005912C>A	NCI-TCGA
CDH2	P19022	p.Phe267Leu	COSM1200448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28005895G>T	NCI-TCGA Cosmic
CDH2	P19022	p.His269Arg	rs1229222461	missense variant	-	NC_000018.10:g.28005890T>C	TOPMed
CDH2	P19022	p.Gln270Pro	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28005887T>G	NCI-TCGA
CDH2	P19022	p.Trp272Cys	COSM4071674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28005880C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Trp272Arg	COSM70113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28005882A>T	NCI-TCGA Cosmic
CDH2	P19022	p.Trp272Gly	rs764528943	missense variant	-	NC_000018.10:g.28005882A>C	ExAC,gnomAD
CDH2	P19022	p.Asn273Ser	rs758876499	missense variant	-	NC_000018.10:g.28005878T>C	ExAC,gnomAD
CDH2	P19022	p.Gly274Trp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28005876C>A	NCI-TCGA
CDH2	P19022	p.Val276Phe	rs1365406186	missense variant	-	NC_000018.10:g.28005870C>A	gnomAD
CDH2	P19022	p.Pro277His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28005866G>T	NCI-TCGA
CDH2	P19022	p.Pro277Thr	COSM3890842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28005867G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Pro277Ser	COSM3524716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28005867G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Glu278Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28005864C>T	NCI-TCGA
CDH2	P19022	p.Glu278Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28005864C>G	NCI-TCGA
CDH2	P19022	p.Gly279Glu	COSM4560260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28005860C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Gly279Arg	rs1300747599	missense variant	-	NC_000018.10:g.28005861C>T	TOPMed
CDH2	P19022	p.Ser280Leu	rs1290459524	missense variant	-	NC_000018.10:g.28005857G>A	gnomAD
CDH2	P19022	p.Lys281Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28005854T>C	NCI-TCGA
CDH2	P19022	p.Lys281Asn	rs764864158	missense variant	-	NC_000018.10:g.28005853C>A	ExAC,gnomAD
CDH2	P19022	p.Pro282His	COSM987340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28005851G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Thr284Ser	rs1382300148	missense variant	-	NC_000018.10:g.28003167T>A	TOPMed
CDH2	P19022	p.Val286Leu	rs1389872035	missense variant	-	NC_000018.10:g.28003161C>A	gnomAD
CDH2	P19022	p.Val286Ala	rs760335891	missense variant	-	NC_000018.10:g.28003160A>G	ExAC,gnomAD
CDH2	P19022	p.Val289Leu	rs142589795	missense variant	-	NC_000018.10:g.28003152C>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val289Ile	rs142589795	missense variant	-	NC_000018.10:g.28003152C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala291Thr	COSM473717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28003146C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Ile292Val	rs958752112	missense variant	-	NC_000018.10:g.28003143T>C	TOPMed
CDH2	P19022	p.Ala294Val	rs761508961	missense variant	-	NC_000018.10:g.28003136G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala294Thr	rs1199412138	missense variant	-	NC_000018.10:g.28003137C>T	gnomAD
CDH2	P19022	p.Ala294Gly	rs761508961	missense variant	-	NC_000018.10:g.28003136G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp296Asn	rs768554447	missense variant	-	NC_000018.10:g.28003131C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asn298Ser	rs200798903	missense variant	-	NC_000018.10:g.28003124T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asn298Ile	rs200798903	missense variant	-	NC_000018.10:g.28003124T>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asn298Asp	rs201695474	missense variant	-	NC_000018.10:g.28003125T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala299Thr	rs892895034	missense variant	-	NC_000018.10:g.28003122C>T	TOPMed,gnomAD
CDH2	P19022	p.Leu300Pro	rs1342538298	missense variant	-	NC_000018.10:g.28003118A>G	gnomAD
CDH2	P19022	p.Asn301Ser	rs374009883	missense variant	-	NC_000018.10:g.28003115T>C	ESP,TOPMed,gnomAD
CDH2	P19022	p.Gly302Val	COSM6148965	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28003112C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Gly302Glu	rs184596097	missense variant	-	NC_000018.10:g.28003112C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Tyr306Cys	rs777857003	missense variant	-	NC_000018.10:g.28003100T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ile308Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28003095T>C	NCI-TCGA
CDH2	P19022	p.Ile308Phe	rs1431008052	missense variant	-	NC_000018.10:g.28003095T>A	gnomAD
CDH2	P19022	p.Val309Leu	rs146668864	missense variant	-	NC_000018.10:g.28003092C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val309Met	rs146668864	missense variant	-	NC_000018.10:g.28003092C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val309Leu	rs146668864	missense variant	-	NC_000018.10:g.28003092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser310Tyr	COSM987336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28003088G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Ser314Asn	rs542324094	missense variant	-	NC_000018.10:g.28003076C>T	1000Genomes,ExAC
CDH2	P19022	p.Ser317Leu	rs753401951	missense variant	-	NC_000018.10:g.28003067G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro318Arg	rs779651386	missense variant	-	NC_000018.10:g.28003064G>C	ExAC,gnomAD
CDH2	P19022	p.Met320Val	rs143855545	missense variant	-	NC_000018.10:g.28003059T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr322Ala	rs1019297487	missense variant	-	NC_000018.10:g.28003053T>C	TOPMed,gnomAD
CDH2	P19022	p.Ile323Val	rs1173487341	missense variant	-	NC_000018.10:g.28003050T>C	TOPMed
CDH2	P19022	p.Ile323Thr	rs1182264806	missense variant	-	NC_000018.10:g.28003049A>G	gnomAD
CDH2	P19022	p.Asn325Ser	rs369552063	missense variant	-	NC_000018.10:g.28003043T>C	ESP,ExAC,gnomAD
CDH2	P19022	p.Glu326Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28003041C>T	NCI-TCGA
CDH2	P19022	p.Thr327Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28003037G>A	NCI-TCGA
CDH2	P19022	p.Gly328Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28003035C>A	NCI-TCGA
CDH2	P19022	p.Asp329Val	rs1224469921	missense variant	-	NC_000018.10:g.28003031T>A	gnomAD
CDH2	P19022	p.Asp329Gly	rs1224469921	missense variant	-	NC_000018.10:g.28003031T>C	gnomAD
CDH2	P19022	p.Ile330Val	rs761713124	missense variant	-	NC_000018.10:g.28003029T>C	ExAC,gnomAD
CDH2	P19022	p.Ile331Val	rs200593657	missense variant	-	NC_000018.10:g.28003026T>C	ExAC,gnomAD
CDH2	P19022	p.Thr332Ala	rs764046987	missense variant	-	NC_000018.10:g.28003023T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val333Met	rs1410496390	missense variant	-	NC_000018.10:g.28003020C>T	gnomAD
CDH2	P19022	p.Ala334Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.28003016G>A	NCI-TCGA
CDH2	P19022	p.Ala335Gly	rs762821933	missense variant	-	NC_000018.10:g.28003013G>C	ExAC,gnomAD
CDH2	P19022	p.Gly336Val	COSM279766	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28003010C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Leu337Pro	rs1391837593	missense variant	-	NC_000018.10:g.28003007A>G	gnomAD
CDH2	P19022	p.Arg339Ter	rs199703048	stop gained	-	NC_000018.10:g.28003002G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg339Gln	rs201205775	missense variant	-	NC_000018.10:g.28003001C>T	gnomAD
CDH2	P19022	p.Arg339Gly	rs199703048	missense variant	-	NC_000018.10:g.28003002G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu340Lys	COSM274476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.28002999C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Lys341Glu	rs1177948036	missense variant	-	NC_000018.10:g.27993637T>C	NCI-TCGA
CDH2	P19022	p.Lys341Arg	rs1478351166	missense variant	-	NC_000018.10:g.27993636T>C	gnomAD
CDH2	P19022	p.Lys341Thr	rs1478351166	missense variant	-	NC_000018.10:g.27993636T>G	gnomAD
CDH2	P19022	p.Lys341Glu	rs1177948036	missense variant	-	NC_000018.10:g.27993637T>C	gnomAD
CDH2	P19022	p.Val342Met	rs1300965782	missense variant	-	NC_000018.10:g.27993634C>T	TOPMed
CDH2	P19022	p.Val342Ala	rs773126408	missense variant	-	NC_000018.10:g.27993633A>G	ExAC
CDH2	P19022	p.Gln343Arg	rs376933549	missense variant	-	NC_000018.10:g.27993630T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gln343Lys	rs200230960	missense variant	-	NC_000018.10:g.27993631G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gln343Pro	rs376933549	missense variant	-	NC_000018.10:g.27993630T>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gln344Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27993628G>T	NCI-TCGA
CDH2	P19022	p.Tyr345Phe	rs774700140	missense variant	-	NC_000018.10:g.27993624T>A	ExAC,gnomAD
CDH2	P19022	p.Thr346Met	rs749639068	missense variant	-	NC_000018.10:g.27993621G>A	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Thr346Met	rs749639068	missense variant	-	NC_000018.10:g.27993621G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr346Arg	rs749639068	missense variant	-	NC_000018.10:g.27993621G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ile348Val	rs1274037988	missense variant	-	NC_000018.10:g.27993616T>C	TOPMed,gnomAD
CDH2	P19022	p.Ile348Thr	rs770147491	missense variant	-	NC_000018.10:g.27993615A>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ile349Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27993613T>G	NCI-TCGA
CDH2	P19022	p.Thr352Ala	rs1346388630	missense variant	-	NC_000018.10:g.27993604T>C	TOPMed,gnomAD
CDH2	P19022	p.Asn357Ser	rs1209862742	missense variant	-	NC_000018.10:g.27993588T>C	TOPMed
CDH2	P19022	p.Asn357Ser	rs1209862742	missense variant	-	NC_000018.10:g.27993588T>C	NCI-TCGA Cosmic
CDH2	P19022	p.Asn357Asp	rs1231569307	missense variant	-	NC_000018.10:g.27993589T>C	gnomAD
CDH2	P19022	p.Gly361Asp	COSM987335	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27993576C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Gly361Ser	rs1297894688	missense variant	-	NC_000018.10:g.27993577C>T	gnomAD
CDH2	P19022	p.Leu362Ile	COSM4071671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27993574G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Thr365Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27993565T>A	NCI-TCGA
CDH2	P19022	p.Ala366Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27993562C>T	NCI-TCGA
CDH2	P19022	p.Ala366Asp	COSM6148967	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27993561G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Thr367Met	rs200933425	missense variant	-	NC_000018.10:g.27993558G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr367Ala	rs756781191	missense variant	-	NC_000018.10:g.27993559T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala368Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27993556C>A	NCI-TCGA
CDH2	P19022	p.Ala368Thr	rs1230791486	missense variant	-	NC_000018.10:g.27993556C>T	TOPMed,gnomAD
CDH2	P19022	p.Ala368Thr	rs1230791486	missense variant	-	NC_000018.10:g.27993556C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Val369Ile	rs149610799	missense variant	-	NC_000018.10:g.27993553C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ile370Phe	rs765252957	missense variant	-	NC_000018.10:g.27993550T>A	ExAC,gnomAD
CDH2	P19022	p.Asn376Ser	rs750531758	missense variant	-	NC_000018.10:g.27993531T>C	ExAC,gnomAD
CDH2	P19022	p.Asn378His	rs1212363792	missense variant	-	NC_000018.10:g.27993526T>G	gnomAD
CDH2	P19022	p.Asn378Ser	rs199977445	missense variant	-	NC_000018.10:g.27993525T>C	ExAC,gnomAD
CDH2	P19022	p.Pro379Leu	COSM3524715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27993522G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Pro379Ser	rs867449013	missense variant	-	NC_000018.10:g.27993523G>A	gnomAD
CDH2	P19022	p.Pro379Thr	rs867449013	missense variant	-	NC_000018.10:g.27993523G>T	gnomAD
CDH2	P19022	p.Ala384Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27993507G>A	NCI-TCGA
CDH2	P19022	p.Met385Val	rs1397542114	missense variant	-	NC_000018.10:g.27993505T>C	gnomAD
CDH2	P19022	p.Thr386Met	rs764389179	missense variant	-	NC_000018.10:g.27993501G>A	ExAC,gnomAD
CDH2	P19022	p.Phe387Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992838A>C	NCI-TCGA
CDH2	P19022	p.Tyr388Asn	COSM4071669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27992837A>T	NCI-TCGA Cosmic
CDH2	P19022	p.Gly389Ala	rs753115623	missense variant	-	NC_000018.10:g.27992833C>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly389Asp	rs753115623	missense variant	-	NC_000018.10:g.27992833C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg395Met	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992815C>A	NCI-TCGA
CDH2	P19022	p.Asp397Gly	rs200655366	missense variant	-	NC_000018.10:g.27992809T>C	1000Genomes,TOPMed,gnomAD
CDH2	P19022	p.Ile398Ser	rs1479938758	missense variant	-	NC_000018.10:g.27992806A>C	gnomAD
CDH2	P19022	p.Ile399Leu	COSM6083214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27992804T>A	NCI-TCGA Cosmic
CDH2	P19022	p.Ile399Thr	rs150850339	missense variant	-	NC_000018.10:g.27992803A>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val400Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992801C>A	NCI-TCGA
CDH2	P19022	p.Ala401Asp	rs1297670315	missense variant	-	NC_000018.10:g.27992797G>T	TOPMed
CDH2	P19022	p.Thr404Ile	rs1450731942	missense variant	-	NC_000018.10:g.27992788G>A	gnomAD
CDH2	P19022	p.Val405Met	rs771423706	missense variant	-	NC_000018.10:g.27992786C>T	NCI-TCGA
CDH2	P19022	p.Val405Met	rs771423706	missense variant	-	NC_000018.10:g.27992786C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp407Asn	rs568089577	missense variant	-	NC_000018.10:g.27992780C>T	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Asp407Asn	rs568089577	missense variant	-	NC_000018.10:g.27992780C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Gln410Ter	rs778620928	stop gained	-	NC_000018.10:g.27992771G>A	ExAC,gnomAD
CDH2	P19022	p.His412Pro	rs1270005384	missense variant	-	NC_000018.10:g.27992764T>G	TOPMed
CDH2	P19022	p.Ala415Gly	rs779873167	missense variant	-	NC_000018.10:g.27992755G>C	ExAC,gnomAD
CDH2	P19022	p.Ala415Thr	rs199631702	missense variant	-	NC_000018.10:g.27992756C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala415Ser	rs199631702	missense variant	-	NC_000018.10:g.27992756C>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asn417Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992748G>C	NCI-TCGA
CDH2	P19022	p.Asn417Ser	rs1185237692	missense variant	-	NC_000018.10:g.27992749T>C	TOPMed
CDH2	P19022	p.Ala418Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992747C>A	NCI-TCGA
CDH2	P19022	p.Ala418Thr	rs200263846	missense variant	-	NC_000018.10:g.27992747C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala418Thr	rs200263846	missense variant	-	NC_000018.10:g.27992747C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Val419Glu	rs758537458	missense variant	-	NC_000018.10:g.27992743A>T	ExAC,gnomAD
CDH2	P19022	p.Arg421Thr	COSM708207	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27992737C>G	NCI-TCGA Cosmic
CDH2	P19022	p.Arg421Lys	COSM4524272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27992737C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Arg421Ser	rs202058357	missense variant	-	NC_000018.10:g.27992736T>A	ExAC,gnomAD
CDH2	P19022	p.Ser423Arg	COSM6083215	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27992730A>C	NCI-TCGA Cosmic
CDH2	P19022	p.Gly425Arg	rs201382169	missense variant	-	NC_000018.10:g.27992726C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro427Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992720G>A	NCI-TCGA
CDH2	P19022	p.Pro427Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992720G>T	NCI-TCGA
CDH2	P19022	p.Thr428Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992716G>A	NCI-TCGA
CDH2	P19022	p.Gly429Glu	rs766881004	missense variant	-	NC_000018.10:g.27992713C>T	ExAC,gnomAD
CDH2	P19022	p.Arg430Gln	rs202198632	missense variant	-	NC_000018.10:g.27992710C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Arg430Trp	rs199882009	missense variant	-	NC_000018.10:g.27992711G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg430Leu	rs202198632	missense variant	-	NC_000018.10:g.27992710C>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg430Trp	rs199882009	missense variant	-	NC_000018.10:g.27992711G>A	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Arg430Gln	rs202198632	missense variant	-	NC_000018.10:g.27992710C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Phe431Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992707A>G	NCI-TCGA
CDH2	P19022	p.Ala432Thr	rs1218458192	missense variant	-	NC_000018.10:g.27992705C>T	NCI-TCGA
CDH2	P19022	p.Ala432Thr	rs1218458192	missense variant	-	NC_000018.10:g.27992705C>T	gnomAD
CDH2	P19022	p.Asp436Asn	rs142861371	missense variant	-	NC_000018.10:g.27992693C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp436Asn	rs142861371	missense variant	-	NC_000018.10:g.27992693C>T	NCI-TCGA
CDH2	P19022	p.Pro437Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27992690G>A	NCI-TCGA
CDH2	P19022	p.Pro437Gln	rs17853634	missense variant	-	NC_000018.10:g.27992689G>T	ExAC,gnomAD
CDH2	P19022	p.Pro437Leu	rs17853634	missense variant	-	NC_000018.10:g.27992689G>A	ExAC,gnomAD
CDH2	P19022	p.Pro437Leu	rs17853634	missense variant	-	NC_000018.10:g.27992689G>A	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Asn438Ser	rs769866300	missense variant	-	NC_000018.10:g.27992686T>C	ExAC,gnomAD
CDH2	P19022	p.Ser439Gly	rs1361440922	missense variant	-	NC_000018.10:g.27992684T>C	gnomAD
CDH2	P19022	p.Asp441Asn	rs781246502	missense variant	-	NC_000018.10:g.27992678C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp441Glu	rs748210936	missense variant	-	NC_000018.10:g.27992676G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr445Ser	rs200033452	missense variant	-	NC_000018.10:g.27992665G>C	TOPMed,gnomAD
CDH2	P19022	p.Thr445Asn	rs200033452	missense variant	-	NC_000018.10:g.27992665G>T	TOPMed,gnomAD
CDH2	P19022	p.Thr445Ser	rs200033452	missense variant	-	NC_000018.10:g.27992665G>C	NCI-TCGA
CDH2	P19022	p.Val446Met	rs377069261	missense variant	-	NC_000018.10:g.27992663C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro449Leu	rs776502285	missense variant	-	NC_000018.10:g.27990349G>A	ExAC
CDH2	P19022	p.Pro449Ala	rs759436092	missense variant	-	NC_000018.10:g.27990350G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro449Thr	rs759436092	missense variant	-	NC_000018.10:g.27990350G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ile450Met	rs200254715	missense variant	-	NC_000018.10:g.27990345G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ile450Phe	rs200762335	missense variant	-	NC_000018.10:g.27990347T>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ile450Val	rs200762335	missense variant	-	NC_000018.10:g.27990347T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp451Asn	rs773021925	missense variant	-	NC_000018.10:g.27990344C>T	ExAC,gnomAD
CDH2	P19022	p.Asp451Asn	rs773021925	missense variant	-	NC_000018.10:g.27990344C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Glu453Gln	COSM987334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27990338C>G	NCI-TCGA Cosmic
CDH2	P19022	p.Glu453Ter	rs768822745	stop gained	-	NC_000018.10:g.27990338C>A	ExAC,gnomAD
CDH2	P19022	p.Thr454Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27990334G>T	NCI-TCGA
CDH2	P19022	p.Thr454Arg	rs1387623128	missense variant	-	NC_000018.10:g.27990334G>C	gnomAD
CDH2	P19022	p.Thr454Ala	rs17857112	missense variant	-	NC_000018.10:g.27990335T>C	-
CDH2	P19022	p.Thr454Ala	rs17857112	missense variant	-	NC_000018.10:g.27990335T>C	UniProt,dbSNP
CDH2	P19022	p.Thr454Ala	VAR_048503	missense variant	-	NC_000018.10:g.27990335T>C	UniProt
CDH2	P19022	p.Asn455Ser	rs529923349	missense variant	-	NC_000018.10:g.27990331T>C	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Arg456Lys	rs1290759313	missense variant	-	NC_000018.10:g.27990328C>T	TOPMed
CDH2	P19022	p.Met457Val	rs562836496	missense variant	-	NC_000018.10:g.27990326T>C	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Leu460Phe	rs746232611	missense variant	-	NC_000018.10:g.27990317G>A	ExAC,gnomAD
CDH2	P19022	p.Thr461Ile	rs201799084	missense variant	-	NC_000018.10:g.27990313G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr461Pro	rs1329166602	missense variant	-	NC_000018.10:g.27990314T>G	TOPMed
CDH2	P19022	p.Val462Leu	rs1275974054	missense variant	-	NC_000018.10:g.27990311C>G	TOPMed
CDH2	P19022	p.Ala463Thr	rs1368666457	missense variant	-	NC_000018.10:g.27990308C>T	gnomAD
CDH2	P19022	p.Glu465Lys	COSM987333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27990302C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Asn466Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27990298T>A	NCI-TCGA
CDH2	P19022	p.Gln467Glu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27990296G>C	NCI-TCGA
CDH2	P19022	p.Lys472Glu	rs1473917332	missense variant	-	NC_000018.10:g.27990281T>C	gnomAD
CDH2	P19022	p.Gly473Glu	rs778109471	missense variant	-	NC_000018.10:g.27990277C>T	ExAC,gnomAD
CDH2	P19022	p.Ile474Val	rs1481966925	missense variant	-	NC_000018.10:g.27990275T>C	TOPMed
CDH2	P19022	p.His476Arg	rs752215297	missense variant	-	NC_000018.10:g.27990268T>C	ExAC,gnomAD
CDH2	P19022	p.His476Pro	rs752215297	missense variant	-	NC_000018.10:g.27990268T>G	ExAC,gnomAD
CDH2	P19022	p.Pro477Leu	rs182701313	missense variant	-	NC_000018.10:g.27990265G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro477His	rs182701313	missense variant	-	NC_000018.10:g.27990265G>T	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gln479Ter	rs1489617243	stop gained	-	NC_000018.10:g.27990260G>A	gnomAD
CDH2	P19022	p.Gln479Arg	rs374121586	missense variant	-	NC_000018.10:g.27990259T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala482Ser	COSM6148969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27990251C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Val484Met	rs17853633	missense variant	-	NC_000018.10:g.27990245C>T	ExAC,gnomAD
CDH2	P19022	p.Val484Ala	rs771852330	missense variant	-	NC_000018.10:g.27990244A>G	ExAC,gnomAD
CDH2	P19022	p.Ser485Thr	rs763047448	missense variant	-	NC_000018.10:g.27990242A>T	ExAC,gnomAD
CDH2	P19022	p.Val486Leu	rs1428236027	missense variant	-	NC_000018.10:g.27990239C>G	TOPMed
CDH2	P19022	p.Val486Ile	rs1428236027	missense variant	-	NC_000018.10:g.27990239C>T	TOPMed
CDH2	P19022	p.Thr487Ile	rs1327331010	missense variant	-	NC_000018.10:g.27990235G>A	gnomAD
CDH2	P19022	p.Ile489Thr	rs1236877209	missense variant	-	NC_000018.10:g.27990229A>G	TOPMed,gnomAD
CDH2	P19022	p.Val491Ile	rs201148355	missense variant	-	NC_000018.10:g.27990224C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Val491Leu	COSM3524710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27990224C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Val491Leu	rs201148355	missense variant	-	NC_000018.10:g.27990224C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val491Ile	rs201148355	missense variant	-	NC_000018.10:g.27990224C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu493Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27990217T>A	NCI-TCGA
CDH2	P19022	p.Asn494Asp	rs781265304	missense variant	-	NC_000018.10:g.27990215T>C	ExAC,gnomAD
CDH2	P19022	p.Asn494Lys	rs771364472	missense variant	-	NC_000018.10:g.27990213G>T	ExAC,gnomAD
CDH2	P19022	p.Pro495Ala	rs200059562	missense variant	-	NC_000018.10:g.27990212G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro495Thr	rs200059562	missense variant	-	NC_000018.10:g.27990212G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Phe497LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.27990204A>-	NCI-TCGA
CDH2	P19022	p.Phe497Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27990206A>G	NCI-TCGA
CDH2	P19022	p.Pro499Ala	rs1159250321	missense variant	-	NC_000018.10:g.27990200G>C	gnomAD
CDH2	P19022	p.Pro499Arg	rs1272545722	missense variant	-	NC_000018.10:g.27990199G>C	TOPMed
CDH2	P19022	p.Asn500LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.27990195_27990196insT	NCI-TCGA
CDH2	P19022	p.Asn500Ser	rs201866479	missense variant	-	NC_000018.10:g.27990196T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro501Arg	COSM6083216	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27990193G>C	NCI-TCGA Cosmic
CDH2	P19022	p.Pro501Ser	COSM5603130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27990194G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Lys502Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27990189C>A	NCI-TCGA
CDH2	P19022	p.Lys502Asn	rs778627728	missense variant	-	NC_000018.10:g.27990189C>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ile504Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27990184A>T	NCI-TCGA
CDH2	P19022	p.Ile504Val	rs754534891	missense variant	-	NC_000018.10:g.27990185T>C	ExAC,gnomAD
CDH2	P19022	p.Arg505Cys	rs753588105	missense variant	-	NC_000018.10:g.27990182G>A	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Arg505Cys	rs753588105	missense variant	-	NC_000018.10:g.27990182G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg505His	rs143201939	missense variant	-	NC_000018.10:g.27990181C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg505Leu	rs143201939	missense variant	-	NC_000018.10:g.27990181C>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg505His	rs143201939	missense variant	-	NC_000018.10:g.27990181C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Gly509Arg	rs750142878	missense variant	-	NC_000018.10:g.27990170C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Gly509Trp	rs750142878	missense variant	-	NC_000018.10:g.27990170C>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly509Arg	rs750142878	missense variant	-	NC_000018.10:g.27990170C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.His511Arg	COSM1388195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27990163T>C	NCI-TCGA Cosmic
CDH2	P19022	p.Ala512Val	rs879152118	missense variant	-	NC_000018.10:g.27990160G>A	TOPMed,gnomAD
CDH2	P19022	p.Ala512Thr	rs1196731334	missense variant	-	NC_000018.10:g.27990161C>T	TOPMed
CDH2	P19022	p.Ala512Gly	rs879152118	missense variant	-	NC_000018.10:g.27990160G>C	TOPMed,gnomAD
CDH2	P19022	p.Gly513Val	COSM6083217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27990157C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Gly513Asp	rs1235894596	missense variant	-	NC_000018.10:g.27990157C>T	gnomAD
CDH2	P19022	p.Gly513Arg	rs201838069	missense variant	-	NC_000018.10:g.27990158C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly513Ser	rs201838069	missense variant	-	NC_000018.10:g.27990158C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr514Ile	rs765366885	missense variant	-	NC_000018.10:g.27990154G>A	ExAC,gnomAD
CDH2	P19022	p.Met515Val	rs1303115025	missense variant	-	NC_000018.10:g.27990152T>C	gnomAD
CDH2	P19022	p.Met515Arg	rs759578721	missense variant	-	NC_000018.10:g.27990151A>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr517Ile	rs1405234964	missense variant	-	NC_000018.10:g.27990145G>A	TOPMed
CDH2	P19022	p.Thr517Arg	rs1405234964	missense variant	-	NC_000018.10:g.27990145G>C	TOPMed
CDH2	P19022	p.Thr518Ala	rs149079132	missense variant	-	NC_000018.10:g.27990143T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Phe519Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27990138G>T	NCI-TCGA
CDH2	P19022	p.Phe519Leu	rs771020355	missense variant	-	NC_000018.10:g.27990140A>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr520Ala	rs138057585	missense variant	-	NC_000018.10:g.27990137T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr520Pro	rs138057585	missense variant	-	NC_000018.10:g.27990137T>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg526Ter	rs748735492	stop gained	-	NC_000018.10:g.27990119G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Arg526Gly	rs748735492	missense variant	-	NC_000018.10:g.27990119G>C	ExAC,gnomAD
CDH2	P19022	p.Arg526Ter	rs748735492	stop gained	-	NC_000018.10:g.27990119G>A	ExAC,gnomAD
CDH2	P19022	p.Arg526Gln	rs150313483	missense variant	-	NC_000018.10:g.27990118C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Arg526Gln	rs150313483	missense variant	-	NC_000018.10:g.27990118C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Tyr527His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27990116A>G	NCI-TCGA
CDH2	P19022	p.Met528Leu	rs754586246	missense variant	-	NC_000018.10:g.27990113T>A	ExAC,gnomAD
CDH2	P19022	p.Met528Ile	rs748700492	missense variant	-	NC_000018.10:g.27990111C>G	ExAC
CDH2	P19022	p.Gln530Arg	rs1189336898	missense variant	-	NC_000018.10:g.27990106T>C	TOPMed,gnomAD
CDH2	P19022	p.Arg533Gly	COSM708209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27990098T>C	NCI-TCGA Cosmic
CDH2	P19022	p.Thr535Ser	rs1270723918	missense variant	-	NC_000018.10:g.27988662T>A	TOPMed,gnomAD
CDH2	P19022	p.Thr535Ile	rs546438155	missense variant	-	NC_000018.10:g.27988661G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr535Ser	rs546438155	missense variant	-	NC_000018.10:g.27988661G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Leu537Val	rs745573480	missense variant	-	NC_000018.10:g.27988656A>C	ExAC,gnomAD
CDH2	P19022	p.Ser538Cys	rs370514300	missense variant	-	NC_000018.10:g.27988652G>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser538Tyr	rs370514300	missense variant	-	NC_000018.10:g.27988652G>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp539Tyr	rs1327936760	missense variant	-	NC_000018.10:g.27988650C>A	gnomAD
CDH2	P19022	p.Pro540Leu	COSM3524709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27988646G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Ala541Thr	rs1409652618	missense variant	-	NC_000018.10:g.27988644C>T	gnomAD
CDH2	P19022	p.Ala541Ser	rs1409652618	missense variant	-	NC_000018.10:g.27988644C>A	gnomAD
CDH2	P19022	p.Asn542Ser	rs140291781	missense variant	-	NC_000018.10:g.27988640T>C	ESP
CDH2	P19022	p.Leu544Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27988634A>T	NCI-TCGA
CDH2	P19022	p.Lys545Asn	rs202132709	missense variant	-	NC_000018.10:g.27988630T>G	gnomAD
CDH2	P19022	p.Ile546LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.27988628A>-	NCI-TCGA
CDH2	P19022	p.Ile546Val	rs1475551106	missense variant	-	NC_000018.10:g.27988629T>C	gnomAD
CDH2	P19022	p.Asp547Tyr	COSM183546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27988626C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Pro548Ser	rs1320677700	missense variant	-	NC_000018.10:g.27988623G>A	TOPMed,gnomAD
CDH2	P19022	p.Val549Met	rs201042909	missense variant	-	NC_000018.10:g.27988620C>T	ExAC,gnomAD
CDH2	P19022	p.Gly551Glu	COSM708210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27988613C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Gly551Ala	rs199900123	missense variant	-	NC_000018.10:g.27988613C>G	TOPMed
CDH2	P19022	p.Thr555Ala	rs764115203	missense variant	-	NC_000018.10:g.27988602T>C	gnomAD
CDH2	P19022	p.Ile556Val	rs1486274548	missense variant	-	NC_000018.10:g.27988599T>C	TOPMed
CDH2	P19022	p.Val558Ile	rs1247759762	missense variant	-	NC_000018.10:g.27988593C>T	TOPMed
CDH2	P19022	p.Arg561Gln	rs758212729	missense variant	-	NC_000018.10:g.27988583C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg561Gln	rs758212729	missense variant	-	NC_000018.10:g.27988583C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Arg561Leu	rs758212729	missense variant	-	NC_000018.10:g.27988583C>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu562Ter	rs752667569	stop gained	-	NC_000018.10:g.27988581C>A	ExAC,gnomAD
CDH2	P19022	p.Glu562Ter	rs752667569	stop gained	-	NC_000018.10:g.27988581C>A	NCI-TCGA
CDH2	P19022	p.Ser563Pro	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27988578A>G	NCI-TCGA
CDH2	P19022	p.Asn565Ile	rs766437502	missense variant	-	NC_000018.10:g.27988571T>A	ExAC,gnomAD
CDH2	P19022	p.Val566Met	rs752473363	missense variant	-	NC_000018.10:g.27988569C>T	ExAC,gnomAD
CDH2	P19022	p.Val566Leu	rs752473363	missense variant	-	NC_000018.10:g.27988569C>A	ExAC,gnomAD
CDH2	P19022	p.Asn568Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27988562T>C	NCI-TCGA
CDH2	P19022	p.Asn568Thr	rs1291530759	missense variant	-	NC_000018.10:g.27988562T>G	gnomAD
CDH2	P19022	p.Asn569Ser	rs1215813174	missense variant	-	NC_000018.10:g.27988559T>C	gnomAD
CDH2	P19022	p.Ile570Met	rs750664667	missense variant	-	NC_000018.10:g.27988555T>C	ExAC
CDH2	P19022	p.Ile570Val	rs1228402305	missense variant	-	NC_000018.10:g.27988557T>C	TOPMed,gnomAD
CDH2	P19022	p.Asn572IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.27988550_27988551insTA	NCI-TCGA
CDH2	P19022	p.Ala573Thr	rs962844318	missense variant	-	NC_000018.10:g.27988548C>T	gnomAD
CDH2	P19022	p.Thr574Ala	rs762302781	missense variant	-	NC_000018.10:g.27988545T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Phe575Tyr	rs1175255093	missense variant	-	NC_000018.10:g.27988541A>T	TOPMed
CDH2	P19022	p.Leu576Arg	COSM1388194	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27988538A>C	NCI-TCGA Cosmic
CDH2	P19022	p.Ala577Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27988535G>T	NCI-TCGA
CDH2	P19022	p.Ala577Thr	rs1395482543	missense variant	-	NC_000018.10:g.27988536C>T	TOPMed
CDH2	P19022	p.Asn580Ser	rs769297692	missense variant	-	NC_000018.10:g.27988526T>C	ExAC,gnomAD
CDH2	P19022	p.Asn580Asp	rs774787740	missense variant	-	NC_000018.10:g.27988527T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro583Ser	COSM5665814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985756G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Pro583Leu	rs1427781975	missense variant	-	NC_000018.10:g.27985755G>A	gnomAD
CDH2	P19022	p.Met585Ile	rs1194624307	missense variant	-	NC_000018.10:g.27985748C>T	gnomAD
CDH2	P19022	p.Thr588Ala	rs763345128	missense variant	-	NC_000018.10:g.27985741T>C	ExAC,gnomAD
CDH2	P19022	p.Thr588Lys	rs775910155	missense variant	-	NC_000018.10:g.27985740G>T	ExAC,gnomAD
CDH2	P19022	p.Gly589Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985738C>T	NCI-TCGA
CDH2	P19022	p.Gly589Ala	rs770284983	missense variant	-	NC_000018.10:g.27985737C>G	ExAC,gnomAD
CDH2	P19022	p.Thr590Met	rs201191002	missense variant	-	NC_000018.10:g.27985734G>A	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Thr590Ala	rs199705934	missense variant	-	NC_000018.10:g.27985735T>C	gnomAD
CDH2	P19022	p.Thr590Met	rs201191002	missense variant	-	NC_000018.10:g.27985734G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr590Lys	rs201191002	missense variant	-	NC_000018.10:g.27985734G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Tyr594Cys	rs199833554	missense variant	-	NC_000018.10:g.27985722T>C	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Leu596Ile	COSM260024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985717G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Asp597Glu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985712A>T	NCI-TCGA
CDH2	P19022	p.Asn601Ser	rs201775968	missense variant	-	NC_000018.10:g.27985701T>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala602Gly	rs777374626	missense variant	-	NC_000018.10:g.27985698G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro603His	COSM2808351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985695G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Gln604Lys	rs1411707891	missense variant	-	NC_000018.10:g.27985693G>T	gnomAD
CDH2	P19022	p.Ala610Val	rs1440803773	missense variant	-	NC_000018.10:g.27985674G>A	TOPMed
CDH2	P19022	p.Thr612Asn	rs1288362921	missense variant	-	NC_000018.10:g.27985668G>T	gnomAD
CDH2	P19022	p.Glu614Lys	rs750540712	missense variant	-	NC_000018.10:g.27985663C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu614Lys	rs750540712	missense variant	-	NC_000018.10:g.27985663C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Thr615Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985659G>T	NCI-TCGA
CDH2	P19022	p.Pro616Thr	rs781477117	missense variant	-	NC_000018.10:g.27985657G>T	ExAC,gnomAD
CDH2	P19022	p.Pro616Ser	rs781477117	missense variant	-	NC_000018.10:g.27985657G>A	ExAC,gnomAD
CDH2	P19022	p.Pro616Leu	rs757404285	missense variant	-	NC_000018.10:g.27985656G>A	ExAC,gnomAD
CDH2	P19022	p.Asp617Glu	rs1422448817	missense variant	-	NC_000018.10:g.27985652G>T	TOPMed
CDH2	P19022	p.Pro618Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985651G>T	NCI-TCGA
CDH2	P19022	p.Asn619His	rs1463744997	missense variant	-	NC_000018.10:g.27985648T>G	TOPMed
CDH2	P19022	p.Ser620Ter	COSM987330	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.27985644G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Ile621Val	rs928874934	missense variant	-	NC_000018.10:g.27985642T>C	TOPMed,gnomAD
CDH2	P19022	p.Asn622Ser	rs1260513378	missense variant	-	NC_000018.10:g.27985638T>C	gnomAD
CDH2	P19022	p.Ile623Val	rs758709494	missense variant	-	NC_000018.10:g.27985636T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp627Asn	COSM3524707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985624C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Tyr628Cys	rs753064228	missense variant	-	NC_000018.10:g.27985620T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro632Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985609G>C	NCI-TCGA
CDH2	P19022	p.Gly635Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.27985600C>A	NCI-TCGA
CDH2	P19022	p.Gly635Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985599C>A	NCI-TCGA
CDH2	P19022	p.Gly635Arg	rs1345401959	missense variant	-	NC_000018.10:g.27985600C>T	gnomAD
CDH2	P19022	p.Pro636Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985597G>T	NCI-TCGA
CDH2	P19022	p.Asp640His	rs760095602	missense variant	-	NC_000018.10:g.27985585C>G	ExAC,gnomAD
CDH2	P19022	p.Leu641Val	rs1291687217	missense variant	-	NC_000018.10:g.27985582G>C	TOPMed
CDH2	P19022	p.Pro642Leu	COSM3524706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985578G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Pro642Thr	COSM708211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985579G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Pro642Ser	rs777119036	missense variant	-	NC_000018.10:g.27985579G>A	ExAC,gnomAD
CDH2	P19022	p.Leu643Val	rs199678478	missense variant	-	NC_000018.10:g.27985576A>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser644Phe	rs1284016891	missense variant	-	NC_000018.10:g.27985572G>A	TOPMed
CDH2	P19022	p.Pro645Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985570G>A	NCI-TCGA
CDH2	P19022	p.Pro645Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985569G>C	NCI-TCGA
CDH2	P19022	p.Thr647Asn	rs760159166	missense variant	-	NC_000018.10:g.27985563G>T	ExAC,gnomAD
CDH2	P19022	p.Ile648Val	COSM70112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985561T>C	NCI-TCGA Cosmic
CDH2	P19022	p.Arg650Thr	COSM438010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985554C>G	NCI-TCGA Cosmic
CDH2	P19022	p.Arg650Ile	COSM279765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985554C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Thr655Ser	rs946014808	missense variant	-	NC_000018.10:g.27985539G>C	gnomAD
CDH2	P19022	p.Arg656Trp	rs200324494	missense variant	-	NC_000018.10:g.27985537G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg656Gln	rs1374084310	missense variant	-	NC_000018.10:g.27985536C>T	gnomAD
CDH2	P19022	p.Asp660Asn	rs1394668941	missense variant	-	NC_000018.10:g.27985231C>T	gnomAD
CDH2	P19022	p.Gln663Ter	rs202052912	stop gained	-	NC_000018.10:g.27985222G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gln663Glu	rs202052912	missense variant	-	NC_000018.10:g.27985222G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Lys669Thr	COSM1388192	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985203T>G	NCI-TCGA Cosmic
CDH2	P19022	p.Lys669Asn	rs1418219005	missense variant	-	NC_000018.10:g.27985202T>A	TOPMed,gnomAD
CDH2	P19022	p.Lys669Gln	rs1182299572	missense variant	-	NC_000018.10:g.27985204T>G	gnomAD
CDH2	P19022	p.Leu671Ile	COSM987329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985198G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Leu671Phe	rs767093257	missense variant	-	NC_000018.10:g.27985198G>A	ExAC,gnomAD
CDH2	P19022	p.Glu672Asp	rs151218256	missense variant	-	NC_000018.10:g.27985193T>A	1000Genomes,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu672Ala	rs570047207	missense variant	-	NC_000018.10:g.27985194T>G	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Gly674Asp	rs1273934223	missense variant	-	NC_000018.10:g.27985188C>T	gnomAD
CDH2	P19022	p.Tyr676Phe	rs199984052	missense variant	-	NC_000018.10:g.27985182T>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val678Gly	rs201490302	missense variant	-	NC_000018.10:g.27985176A>C	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Val678Phe	rs1240227564	missense variant	-	NC_000018.10:g.27985177C>A	gnomAD
CDH2	P19022	p.Pro679Ala	rs747090043	missense variant	-	NC_000018.10:g.27985174G>C	ExAC,gnomAD
CDH2	P19022	p.Thr683Ala	rs1367227912	missense variant	-	NC_000018.10:g.27985162T>C	gnomAD
CDH2	P19022	p.Ser685Leu	rs1371255423	missense variant	-	NC_000018.10:g.27985155G>A	NCI-TCGA
CDH2	P19022	p.Ser685Leu	rs1371255423	missense variant	-	NC_000018.10:g.27985155G>A	gnomAD
CDH2	P19022	p.Asn687Thr	rs377497277	missense variant	-	NC_000018.10:g.27985149T>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asn687Ser	rs377497277	missense variant	-	NC_000018.10:g.27985149T>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro688Leu	rs1444982512	missense variant	-	NC_000018.10:g.27985146G>A	TOPMed
CDH2	P19022	p.Ser691Thr	rs202027058	missense variant	-	NC_000018.10:g.27985138A>T	gnomAD
CDH2	P19022	p.Asn692Ser	RCV000656331	missense variant	Cerebral arteriovenous malformation (BAVM)	NC_000018.10:g.27985134T>C	ClinVar
CDH2	P19022	p.Asn692Ser	rs1555630396	missense variant	-	NC_000018.10:g.27985134T>C	-
CDH2	P19022	p.Ser694Phe	COSM2808344	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985128G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Ile695Val	rs778982228	missense variant	-	NC_000018.10:g.27985126T>C	ExAC,gnomAD
CDH2	P19022	p.Ile695Thr	rs1452947996	missense variant	-	NC_000018.10:g.27985125A>G	gnomAD
CDH2	P19022	p.Leu696Val	rs755360931	missense variant	-	NC_000018.10:g.27985123G>C	ExAC,gnomAD
CDH2	P19022	p.Arg697Cys	rs754165315	missense variant	-	NC_000018.10:g.27985120G>A	NCI-TCGA
CDH2	P19022	p.Arg697Leu	rs146657229	missense variant	-	NC_000018.10:g.27985119C>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg697Cys	rs754165315	missense variant	-	NC_000018.10:g.27985120G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg697His	rs146657229	missense variant	-	NC_000018.10:g.27985119C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val698Met	rs767117514	missense variant	-	NC_000018.10:g.27985117C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val698Leu	rs767117514	missense variant	-	NC_000018.10:g.27985117C>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val700Gly	COSM4071666	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985110A>C	NCI-TCGA Cosmic
CDH2	P19022	p.Val700Phe	rs1027567929	missense variant	-	NC_000018.10:g.27985111C>A	gnomAD
CDH2	P19022	p.Val700Ile	rs1027567929	missense variant	-	NC_000018.10:g.27985111C>T	gnomAD
CDH2	P19022	p.Asp704His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985099C>G	NCI-TCGA
CDH2	P19022	p.Asp704Asn	rs1206310024	missense variant	-	NC_000018.10:g.27985099C>T	gnomAD
CDH2	P19022	p.Asp704Val	rs763789703	missense variant	-	NC_000018.10:g.27985098T>A	ExAC,gnomAD
CDH2	P19022	p.Asn706Lys	rs775358499	missense variant	-	NC_000018.10:g.27985091G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asn706Ser	rs201333291	missense variant	-	NC_000018.10:g.27985092T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly707Arg	rs200558954	missense variant	-	NC_000018.10:g.27985090C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Cys709Gly	rs1176600992	missense variant	-	NC_000018.10:g.27985084A>C	gnomAD
CDH2	P19022	p.Asp711His	rs370864272	missense variant	-	NC_000018.10:g.27985078C>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp711Glu	rs1318395524	missense variant	-	NC_000018.10:g.27985076A>T	gnomAD
CDH2	P19022	p.Val712Met	rs772245129	missense variant	-	NC_000018.10:g.27985075C>T	ExAC,gnomAD
CDH2	P19022	p.Asp713His	rs199712566	missense variant	-	NC_000018.10:g.27985072C>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp713Asn	rs199712566	missense variant	-	NC_000018.10:g.27985072C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly717Ser	rs1435057861	missense variant	-	NC_000018.10:g.27985060C>T	gnomAD
CDH2	P19022	p.Gly717Ala	rs201543789	missense variant	-	NC_000018.10:g.27985059C>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly717Asp	rs201543789	missense variant	-	NC_000018.10:g.27985059C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly717Val	rs201543789	missense variant	-	NC_000018.10:g.27985059C>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala718Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27985057C>T	NCI-TCGA
CDH2	P19022	p.Ala718Val	rs140836073	missense variant	-	NC_000018.10:g.27985056G>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala718Val	rs140836073	missense variant	-	NC_000018.10:g.27985056G>A	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Leu720His	COSM987328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985050A>T	NCI-TCGA Cosmic
CDH2	P19022	p.Leu720Pro	rs547585102	missense variant	-	NC_000018.10:g.27985050A>G	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Thr722Ile	rs781525713	missense variant	-	NC_000018.10:g.27985044G>A	NCI-TCGA
CDH2	P19022	p.Thr722Ile	rs781525713	missense variant	-	NC_000018.10:g.27985044G>A	ExAC,gnomAD
CDH2	P19022	p.Thr722Ala	rs750975099	missense variant	-	NC_000018.10:g.27985045T>C	ExAC,gnomAD
CDH2	P19022	p.Gly723Cys	COSM6083218	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27985042C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Gly723Ser	rs151110746	missense variant	-	NC_000018.10:g.27985042C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala724Thr	rs763843213	missense variant	-	NC_000018.10:g.27985039C>T	ExAC,gnomAD
CDH2	P19022	p.Ile725Val	rs1439874798	missense variant	-	NC_000018.10:g.27985036T>C	gnomAD
CDH2	P19022	p.Ile726Thr	rs1237046474	missense variant	-	NC_000018.10:g.27985032A>G	gnomAD
CDH2	P19022	p.Ile728Val	rs1280044418	missense variant	-	NC_000018.10:g.27985027T>C	gnomAD
CDH2	P19022	p.Leu729Met	rs1231706166	missense variant	-	NC_000018.10:g.27985024G>T	gnomAD
CDH2	P19022	p.Ile732Ser	rs1270313904	missense variant	-	NC_000018.10:g.27985014A>C	TOPMed,gnomAD
CDH2	P19022	p.Ile732Val	rs762635467	missense variant	-	NC_000018.10:g.27985015T>C	ExAC,gnomAD
CDH2	P19022	p.Ile733Leu	rs752394774	missense variant	-	NC_000018.10:g.27985012T>G	ExAC,gnomAD
CDH2	P19022	p.Ile733Met	rs765163872	missense variant	-	NC_000018.10:g.27985010G>C	ExAC,gnomAD
CDH2	P19022	p.Leu738Phe	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27983081G>A	NCI-TCGA
CDH2	P19022	p.Val739Leu	rs753513462	missense variant	-	NC_000018.10:g.27983078C>A	NCI-TCGA
CDH2	P19022	p.Val739Leu	rs753513462	missense variant	-	NC_000018.10:g.27983078C>A	ExAC,gnomAD
CDH2	P19022	p.Val739Leu	rs753513462	missense variant	-	NC_000018.10:g.27983078C>G	ExAC,gnomAD
CDH2	P19022	p.Val739Gly	rs1471322766	missense variant	-	NC_000018.10:g.27983077A>C	gnomAD
CDH2	P19022	p.Met741ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.27983071_27983072AT>-	NCI-TCGA
CDH2	P19022	p.Met741Ile	rs534039382	missense variant	-	NC_000018.10:g.27983070C>T	1000Genomes,ExAC,gnomAD
CDH2	P19022	p.Phe742Ser	rs943756159	missense variant	-	NC_000018.10:g.27983068A>G	gnomAD
CDH2	P19022	p.Val743Ala	rs760591904	missense variant	-	NC_000018.10:g.27983065A>G	ExAC,gnomAD
CDH2	P19022	p.Val744Ile	rs1188062661	missense variant	-	NC_000018.10:g.27983063C>T	TOPMed
CDH2	P19022	p.Trp745Leu	rs1443969148	missense variant	-	NC_000018.10:g.27983059C>A	TOPMed
CDH2	P19022	p.Lys747Glu	rs1377836480	missense variant	-	NC_000018.10:g.27983054T>C	gnomAD
CDH2	P19022	p.Arg748His	rs762994164	missense variant	-	NC_000018.10:g.27983050C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg748Cys	rs199937130	missense variant	-	NC_000018.10:g.27983051G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg748His	rs762994164	missense variant	-	NC_000018.10:g.27983050C>T	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Arg749Gln	rs373060189	missense variant	-	NC_000018.10:g.27983047C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg749Trp	rs775708988	missense variant	-	NC_000018.10:g.27983048G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg749Trp	rs775708988	missense variant	-	NC_000018.10:g.27983048G>A	NCI-TCGA,NCI-TCGA Cosmic
CDH2	P19022	p.Asp750Gly	rs879079313	missense variant	-	NC_000018.10:g.27983044T>C	TOPMed,gnomAD
CDH2	P19022	p.Lys751Arg	rs746246698	missense variant	-	NC_000018.10:g.27983041T>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg753Cys	rs771312999	missense variant	-	NC_000018.10:g.27983036G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Arg753Cys	rs771312999	missense variant	-	NC_000018.10:g.27983036G>A	NCI-TCGA
CDH2	P19022	p.Arg753His	rs747560192	missense variant	-	NC_000018.10:g.27983035C>T	ExAC,gnomAD
CDH2	P19022	p.Arg753Ser	rs771312999	missense variant	-	NC_000018.10:g.27983036G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala755Thr	rs778402718	missense variant	-	NC_000018.10:g.27983030C>T	ExAC,gnomAD
CDH2	P19022	p.Lys756Asn	rs747621903	missense variant	-	NC_000018.10:g.27983025T>A	ExAC,gnomAD
CDH2	P19022	p.Gln757Arg	rs142999960	missense variant	-	NC_000018.10:g.27983023T>C	ESP,ExAC,gnomAD
CDH2	P19022	p.Pro762Ser	rs753519915	missense variant	-	NC_000018.10:g.27983009G>A	ExAC,gnomAD
CDH2	P19022	p.Asp764Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27983003C>A	NCI-TCGA
CDH2	P19022	p.Asp765Asn	COSM6083219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27983000C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Asp768Glu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27982989A>C	NCI-TCGA
CDH2	P19022	p.Asp768Tyr	rs766157846	missense variant	-	NC_000018.10:g.27982991C>A	ExAC,gnomAD
CDH2	P19022	p.Ile770Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27982985T>C	NCI-TCGA
CDH2	P19022	p.Glu780Gly	rs1467594732	missense variant	-	NC_000018.10:g.27982954T>C	gnomAD
CDH2	P19022	p.Asp784Asn	rs1419936790	missense variant	-	NC_000018.10:g.27963521C>T	gnomAD
CDH2	P19022	p.Ser788Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963509T>A	NCI-TCGA
CDH2	P19022	p.Thr795Pro	rs150933422	missense variant	-	NC_000018.10:g.27963488T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val796Ala	rs1277458415	missense variant	-	NC_000018.10:g.27963484A>G	TOPMed
CDH2	P19022	p.Ile801Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963469A>T	NCI-TCGA
CDH2	P19022	p.Ile801Met	rs375175765	missense variant	-	NC_000018.10:g.27963468G>C	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Lys802Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963466T>G	NCI-TCGA
CDH2	P19022	p.Lys802Arg	rs1212946496	missense variant	-	NC_000018.10:g.27963466T>C	TOPMed
CDH2	P19022	p.Val804Met	rs1001078493	missense variant	-	NC_000018.10:g.27963461C>T	TOPMed
CDH2	P19022	p.Arg807Gln	COSM2808325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27963451C>T	NCI-TCGA Cosmic
CDH2	P19022	p.Arg807Ter	COSM5608078	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.27963452G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Arg808Ter	rs759639016	stop gained	-	NC_000018.10:g.27963449G>A	ExAC
CDH2	P19022	p.Arg808Gln	rs1313840328	missense variant	-	NC_000018.10:g.27963448C>T	gnomAD
CDH2	P19022	p.Met809Thr	rs754029821	missense variant	-	NC_000018.10:g.27963445A>G	ExAC,gnomAD
CDH2	P19022	p.Asp810Tyr	rs1357019333	missense variant	-	NC_000018.10:g.27963443C>A	gnomAD
CDH2	P19022	p.Glu811Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963440C>T	NCI-TCGA
CDH2	P19022	p.Pro813His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963433G>T	NCI-TCGA
CDH2	P19022	p.Ile814Met	rs267605138	missense variant	-	NC_000018.10:g.27963429G>C	TOPMed,gnomAD
CDH2	P19022	p.Ile814Val	rs199674217	missense variant	-	NC_000018.10:g.27963431T>C	ExAC,gnomAD
CDH2	P19022	p.His815Tyr	rs1362233326	missense variant	-	NC_000018.10:g.27963428G>A	TOPMed
CDH2	P19022	p.His815Gln	rs761127424	missense variant	-	NC_000018.10:g.27963426G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala816Thr	rs773655778	missense variant	-	NC_000018.10:g.27963425C>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu817Lys	rs1476143861	missense variant	-	NC_000018.10:g.27963422C>T	gnomAD
CDH2	P19022	p.Pro818His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963418G>T	NCI-TCGA
CDH2	P19022	p.Pro818Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963419G>T	NCI-TCGA
CDH2	P19022	p.Pro818Leu	rs200230866	missense variant	-	NC_000018.10:g.27963418G>A	TOPMed
CDH2	P19022	p.Gln819His	rs774895186	missense variant	-	NC_000018.10:g.27963414C>G	ExAC,gnomAD
CDH2	P19022	p.Pro821Leu	rs768097198	missense variant	-	NC_000018.10:g.27963409G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Val822Phe	COSM6148974	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27963407C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Val822Ala	rs779600795	missense variant	-	NC_000018.10:g.27963406A>G	ExAC,gnomAD
CDH2	P19022	p.Arg823Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963403C>A	NCI-TCGA
CDH2	P19022	p.Arg823Gln	rs199638301	missense variant	-	NC_000018.10:g.27963403C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala825Ser	rs1277644544	missense variant	-	NC_000018.10:g.27963398C>A	gnomAD
CDH2	P19022	p.Ala825Val	rs1217385337	missense variant	-	NC_000018.10:g.27963397G>A	gnomAD
CDH2	P19022	p.Ala825Thr	rs1277644544	missense variant	-	NC_000018.10:g.27963398C>T	gnomAD
CDH2	P19022	p.Pro829Leu	rs1302337851	missense variant	-	NC_000018.10:g.27963385G>A	TOPMed
CDH2	P19022	p.Pro829Ser	rs1294310150	missense variant	-	NC_000018.10:g.27963386G>A	gnomAD
CDH2	P19022	p.Ile832Met	rs1376520105	missense variant	-	NC_000018.10:g.27963375A>C	gnomAD
CDH2	P19022	p.Gly833Glu	rs202236593	missense variant	-	NC_000018.10:g.27963373C>T	gnomAD
CDH2	P19022	p.Asp834ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.27963371C>-	NCI-TCGA
CDH2	P19022	p.Phe835Leu	COSM4670852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27963366G>T	NCI-TCGA Cosmic
CDH2	P19022	p.Asn837Ile	rs200254151	missense variant	-	NC_000018.10:g.27963361T>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Glu838Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963357C>A	NCI-TCGA
CDH2	P19022	p.Glu838Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27963359C>T	NCI-TCGA
CDH2	P19022	p.Lys841Ile	COSM6083221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27952352T>A	NCI-TCGA Cosmic
CDH2	P19022	p.Ala842Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27952350C>A	NCI-TCGA
CDH2	P19022	p.Ala842Pro	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27952350C>G	NCI-TCGA
CDH2	P19022	p.Ala842Val	rs370333144	missense variant	-	NC_000018.10:g.27952349G>A	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala842Thr	rs1293562698	missense variant	-	NC_000018.10:g.27952350C>T	TOPMed
CDH2	P19022	p.Ala843Ser	rs1354823437	missense variant	-	NC_000018.10:g.27952347C>A	gnomAD
CDH2	P19022	p.Asn845Ser	rs2289664	missense variant	-	NC_000018.10:g.27952340T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asn845Tyr	rs751881258	missense variant	-	NC_000018.10:g.27952341T>A	ExAC,gnomAD
CDH2	P19022	p.Pro850Ser	rs878963425	missense variant	-	NC_000018.10:g.27952326G>A	TOPMed
CDH2	P19022	p.Tyr852Ser	rs1312662447	missense variant	-	NC_000018.10:g.27952319T>G	TOPMed
CDH2	P19022	p.Leu856Ter	COSM473716	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.27952307A>T	NCI-TCGA Cosmic
CDH2	P19022	p.Tyr860MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.27952297G>-	NCI-TCGA
CDH2	P19022	p.Ser863Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27952285A>T	NCI-TCGA
CDH2	P19022	p.Ser863Cys	rs764766275	missense variant	-	NC_000018.10:g.27952287T>A	ExAC,gnomAD
CDH2	P19022	p.Gly864Asp	rs200803866	missense variant	-	NC_000018.10:g.27952283C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr866Ser	rs776296541	missense variant	-	NC_000018.10:g.27952277G>C	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Thr866Asn	rs776296541	missense variant	-	NC_000018.10:g.27952277G>T	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ala867Pro	rs896948558	missense variant	-	NC_000018.10:g.27952275C>G	TOPMed,gnomAD
CDH2	P19022	p.Gly868Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27952271C>A	NCI-TCGA
CDH2	P19022	p.Leu870Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.27952265A>T	NCI-TCGA
CDH2	P19022	p.Leu873Pro	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27952256A>G	NCI-TCGA
CDH2	P19022	p.Leu873Phe	COSM3890839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27952257G>A	NCI-TCGA Cosmic
CDH2	P19022	p.Leu873Val	rs1379928255	missense variant	-	NC_000018.10:g.27952257G>C	TOPMed,gnomAD
CDH2	P19022	p.Asn874Lys	rs773118735	missense variant	-	NC_000018.10:g.27952252A>C	ExAC,gnomAD
CDH2	P19022	p.Ser876Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.27952247G>T	NCI-TCGA
CDH2	P19022	p.Ser877Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27952245T>G	NCI-TCGA
CDH2	P19022	p.Ser877Gly	rs771762304	missense variant	-	NC_000018.10:g.27952245T>C	ExAC,gnomAD
CDH2	P19022	p.Ser877Thr	rs138164198	missense variant	-	NC_000018.10:g.27952244C>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser877Asn	rs138164198	missense variant	-	NC_000018.10:g.27952244C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Ser878Ile	COSM987322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27952241C>A	NCI-TCGA Cosmic
CDH2	P19022	p.Gly879Asp	rs1198222564	missense variant	-	NC_000018.10:g.27952238C>T	gnomAD
CDH2	P19022	p.Gly880Ala	rs199787442	missense variant	-	NC_000018.10:g.27952235C>G	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Gly880Ser	rs371258872	missense variant	-	NC_000018.10:g.27952236C>T	ESP,TOPMed
CDH2	P19022	p.Glu881Asp	rs756289185	missense variant	-	NC_000018.10:g.27952231C>A	ExAC,gnomAD
CDH2	P19022	p.Glu881Lys	rs879088485	missense variant	-	NC_000018.10:g.27952233C>T	TOPMed
CDH2	P19022	p.Asp883His	rs377612781	missense variant	-	NC_000018.10:g.27952227C>G	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp883Asn	rs377612781	missense variant	-	NC_000018.10:g.27952227C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Tyr884Cys	rs1488202424	missense variant	-	NC_000018.10:g.27952223T>C	gnomAD
CDH2	P19022	p.Asn888Lys	rs201334347	missense variant	-	NC_000018.10:g.27952210G>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp889Asn	rs200373316	missense variant	-	NC_000018.10:g.27952209C>T	ESP,ExAC,TOPMed,gnomAD
CDH2	P19022	p.Asp889Gly	rs199657884	missense variant	-	NC_000018.10:g.27952208T>C	gnomAD
CDH2	P19022	p.Gly891Arg	rs764584049	missense variant	-	NC_000018.10:g.27952203C>T	ExAC,gnomAD
CDH2	P19022	p.Pro892Leu	rs758658207	missense variant	-	NC_000018.10:g.27952199G>A	ExAC,TOPMed,gnomAD
CDH2	P19022	p.Pro892Ser	rs1328130862	missense variant	-	NC_000018.10:g.27952200G>A	gnomAD
CDH2	P19022	p.Arg893Trp	rs753251005	missense variant	-	NC_000018.10:g.27952197G>A	ExAC,gnomAD
CDH2	P19022	p.Arg893Gln	rs201294768	missense variant	-	NC_000018.10:g.27952196C>T	1000Genomes,gnomAD
CDH2	P19022	p.Phe894Ser	COSM6083222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27952193A>G	NCI-TCGA Cosmic
CDH2	P19022	p.Phe894Leu	COSM1324651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27952192G>C	NCI-TCGA Cosmic
CDH2	P19022	p.Lys895Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27952189C>A	NCI-TCGA
CDH2	P19022	p.Leu897Val	COSM4071664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27952185G>C	NCI-TCGA Cosmic
CDH2	P19022	p.Leu897His	COSM4071663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.27952184A>T	NCI-TCGA Cosmic
CDH2	P19022	p.Met900Val	rs776060409	missense variant	-	NC_000018.10:g.27952176T>C	ExAC,gnomAD
CDH2	P19022	p.Tyr901Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.27952172T>C	NCI-TCGA
CDH2	P19022	p.Asp905Asn	rs765791790	missense variant	-	NC_000018.10:g.27952161C>T	ExAC,gnomAD
TCN2	P20062	p.His3Tyr	rs769044030	missense variant	-	NC_000022.11:g.30607338C>T	ExAC,gnomAD
TCN2	P20062	p.His3Asn	rs769044030	missense variant	-	NC_000022.11:g.30607338C>A	ExAC,gnomAD
TCN2	P20062	p.Leu4His	rs144098088	missense variant	-	NC_000022.11:g.30607342T>A	ESP,ExAC,gnomAD
TCN2	P20062	p.Leu4Phe	rs572942248	missense variant	-	NC_000022.11:g.30607341C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu4Val	rs572942248	missense variant	-	NC_000022.11:g.30607341C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu4Pro	rs144098088	missense variant	-	NC_000022.11:g.30607342T>C	ESP,ExAC,gnomAD
TCN2	P20062	p.Leu4Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30607341C>A	NCI-TCGA
TCN2	P20062	p.Leu4Phe	RCV000756753	missense variant	-	NC_000022.11:g.30607341C>T	ClinVar
TCN2	P20062	p.Ala6Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30607348C>T	NCI-TCGA
TCN2	P20062	p.Leu10Phe	rs761037241	missense variant	-	NC_000022.11:g.30607359C>T	ExAC,gnomAD
TCN2	P20062	p.Gly12Trp	rs766272902	missense variant	-	NC_000022.11:g.30607365G>T	ExAC,gnomAD
TCN2	P20062	p.Gly15Arg	rs1366455356	missense variant	-	NC_000022.11:g.30607374G>A	gnomAD
TCN2	P20062	p.Gly15Glu	rs753691523	missense variant	-	NC_000022.11:g.30607375G>A	ExAC,gnomAD
TCN2	P20062	p.Ala16Thr	rs1159884923	missense variant	-	NC_000022.11:g.30607377G>A	gnomAD
TCN2	P20062	p.Ala16GlyPheSerTerUnk	COSM1415734	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30607372_30607373insG	NCI-TCGA Cosmic
TCN2	P20062	p.Leu17Val	rs759462885	missense variant	-	NC_000022.11:g.30607380C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Thr18Ile	rs1455774524	missense variant	-	NC_000022.11:g.30607384C>T	gnomAD
TCN2	P20062	p.Glu19Gln	rs1305133497	missense variant	-	NC_000022.11:g.30607386G>C	TOPMed
TCN2	P20062	p.Glu19Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30607388G>C	NCI-TCGA
TCN2	P20062	p.Met20Leu	rs375476510	missense variant	-	NC_000022.11:g.30607389A>T	ESP,ExAC,gnomAD
TCN2	P20062	p.Met20Lys	rs752210008	missense variant	-	NC_000022.11:g.30607390T>A	ExAC,gnomAD
TCN2	P20062	p.Glu22Val	rs767065449	missense variant	-	NC_000022.11:g.30610871A>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Glu22Gly	rs767065449	missense variant	-	NC_000022.11:g.30610871A>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Glu22Lys	rs1332646331	missense variant	-	NC_000022.11:g.30607395G>A	TOPMed,gnomAD
TCN2	P20062	p.Ile23Val	rs9606756	missense variant	-	NC_000022.11:g.30610873A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ile23Val	RCV000398328	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610873A>G	ClinVar
TCN2	P20062	p.Pro24Ser	RCV000559774	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610876C>T	ClinVar
TCN2	P20062	p.Pro24Ala	rs755866662	missense variant	-	NC_000022.11:g.30610876C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Pro24Ser	rs755866662	missense variant	-	NC_000022.11:g.30610876C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Pro24Arg	rs1276617352	missense variant	-	NC_000022.11:g.30610877C>G	TOPMed
TCN2	P20062	p.Pro24Thr	rs755866662	missense variant	-	NC_000022.11:g.30610876C>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Met26Arg	rs758927111	missense variant	-	NC_000022.11:g.30610883T>G	ExAC,gnomAD
TCN2	P20062	p.Met26Ile	COSM5074858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30610884G>T	NCI-TCGA Cosmic
TCN2	P20062	p.Asp27Gly	rs1465444723	missense variant	-	NC_000022.11:g.30610886A>G	gnomAD
TCN2	P20062	p.His29Arg	rs778457875	missense variant	-	NC_000022.11:g.30610892A>G	ExAC
TCN2	P20062	p.Leu30Gln	rs116605132	missense variant	-	NC_000022.11:g.30610895T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu30Arg	rs116605132	missense variant	-	NC_000022.11:g.30610895T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu30Arg	RCV000635261	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610895T>G	ClinVar
TCN2	P20062	p.Leu34Ser	rs1292825855	missense variant	-	NC_000022.11:g.30610907T>C	TOPMed
TCN2	P20062	p.Gln36Arg	rs781389750	missense variant	-	NC_000022.11:g.30610913A>G	ExAC,gnomAD
TCN2	P20062	p.His37Gln	rs1474415495	missense variant	-	NC_000022.11:g.30610917C>A	gnomAD
TCN2	P20062	p.His37Pro	rs1356254021	missense variant	-	NC_000022.11:g.30610916A>C	TOPMed
TCN2	P20062	p.His37Tyr	rs1326813642	missense variant	-	NC_000022.11:g.30610915C>T	gnomAD
TCN2	P20062	p.His37Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30610917C>G	NCI-TCGA
TCN2	P20062	p.Leu38Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30610918C>T	NCI-TCGA
TCN2	P20062	p.Trp41Leu	COSM1415735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30610928G>T	NCI-TCGA Cosmic
TCN2	P20062	p.Trp41Ter	COSM1415736	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30610929G>A	NCI-TCGA Cosmic
TCN2	P20062	p.Met42Thr	COSM1327272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30610931T>C	NCI-TCGA Cosmic
TCN2	P20062	p.Arg44Gln	rs770055978	missense variant	-	NC_000022.11:g.30610937G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg44Trp	rs374992877	missense variant	-	NC_000022.11:g.30610936C>T	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu45Val	rs1201136556	missense variant	-	NC_000022.11:g.30610939C>G	TOPMed
TCN2	P20062	p.Ser46Cys	rs779652292	missense variant	-	NC_000022.11:g.30610943C>G	ExAC,gnomAD
TCN2	P20062	p.Leu47Met	rs200833932	missense variant	-	NC_000022.11:g.30610945C>A	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.His49Tyr	rs1191081994	missense variant	-	NC_000022.11:g.30610951C>T	TOPMed
TCN2	P20062	p.His49Leu	rs1303034662	missense variant	-	NC_000022.11:g.30610952A>T	TOPMed,gnomAD
TCN2	P20062	p.Pro52Arg	rs774253239	missense variant	-	NC_000022.11:g.30610961C>G	ExAC,gnomAD
TCN2	P20062	p.Pro52Ser	rs1555894597	missense variant	-	NC_000022.11:g.30610960C>T	-
TCN2	P20062	p.Pro52Ser	RCV000546504	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610960C>T	ClinVar
TCN2	P20062	p.Ser53Gly	rs761800308	missense variant	-	NC_000022.11:g.30610963A>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ile54Phe	rs556464879	missense variant	-	NC_000022.11:g.30610966A>T	1000Genomes,ExAC,gnomAD
TCN2	P20062	p.Ile54Val	COSM4939535	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30610966A>G	NCI-TCGA Cosmic
TCN2	P20062	p.Tyr55Ser	rs201701227	missense variant	-	NC_000022.11:g.30610970A>C	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Tyr55Cys	rs201701227	missense variant	-	NC_000022.11:g.30610970A>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gly57Ser	rs1230320964	missense variant	-	NC_000022.11:g.30610975G>A	gnomAD
TCN2	P20062	p.Gly57Val	rs752965806	missense variant	-	NC_000022.11:g.30610976G>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu58Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30610979T>C	NCI-TCGA
TCN2	P20062	p.Arg59Cys	rs757905563	missense variant	-	NC_000022.11:g.30610981C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg59His	rs1036556308	missense variant	-	NC_000022.11:g.30610982G>A	gnomAD
TCN2	P20062	p.Arg59Cys	RCV000556778	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610981C>T	ClinVar
TCN2	P20062	p.Arg59Leu	rs1036556308	missense variant	-	NC_000022.11:g.30610982G>T	gnomAD
TCN2	P20062	p.Ser62Gly	rs145474456	missense variant	-	NC_000022.11:g.30610990A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser62Asn	rs750525855	missense variant	-	NC_000022.11:g.30610991G>A	ExAC,gnomAD
TCN2	P20062	p.Ala65Asp	rs1037707287	missense variant	-	NC_000022.11:g.30611000C>A	TOPMed,gnomAD
TCN2	P20062	p.Ala65Thr	rs1159823738	missense variant	-	NC_000022.11:g.30610999G>A	gnomAD
TCN2	P20062	p.Thr67Ile	rs1176409369	missense variant	-	NC_000022.11:g.30611006C>T	TOPMed,gnomAD
TCN2	P20062	p.Glu69Gly	rs1360531696	missense variant	-	NC_000022.11:g.30611012A>G	gnomAD
TCN2	P20062	p.Asp70Val	rs938845853	missense variant	-	NC_000022.11:g.30611015A>T	gnomAD
TCN2	P20062	p.Tyr72Cys	rs748012975	missense variant	-	NC_000022.11:g.30611021A>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.His74Tyr	rs557393479	missense variant	-	NC_000022.11:g.30611026C>T	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.His74Pro	rs1281078267	missense variant	-	NC_000022.11:g.30611027A>C	gnomAD
TCN2	P20062	p.His74Asp	rs557393479	missense variant	-	NC_000022.11:g.30611026C>G	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Lys77Met	rs75680863	missense variant	-	NC_000022.11:g.30611036A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Lys77Arg	rs75680863	missense variant	-	NC_000022.11:g.30611036A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Lys77Glu	rs1210639626	missense variant	-	NC_000022.11:g.30611035A>G	gnomAD
TCN2	P20062	p.Lys77Met	RCV000351597	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30611036A>T	ClinVar
TCN2	P20062	p.Leu78Phe	rs1180349663	missense variant	-	NC_000022.11:g.30611038C>T	TOPMed,gnomAD
TCN2	P20062	p.Leu78Ile	rs1180349663	missense variant	-	NC_000022.11:g.30611038C>A	TOPMed,gnomAD
TCN2	P20062	p.Gly79Cys	rs764544701	missense variant	-	NC_000022.11:g.30611041G>T	ExAC,gnomAD
TCN2	P20062	p.Gly79Asp	rs751973614	missense variant	-	NC_000022.11:g.30611042G>A	ExAC
TCN2	P20062	p.Cys83Tyr	rs768090763	missense variant	-	NC_000022.11:g.30611054G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu84Phe	rs756185555	missense variant	-	NC_000022.11:g.30611056C>T	ExAC,gnomAD
TCN2	P20062	p.Leu85Val	rs367867691	missense variant	-	NC_000022.11:g.30611059C>G	ESP,ExAC,gnomAD
TCN2	P20062	p.Gly86Glu	rs371944934	missense variant	-	NC_000022.11:g.30611063G>A	ESP,ExAC
TCN2	P20062	p.Ser87Pro	rs780786251	missense variant	-	NC_000022.11:g.30612874T>C	ExAC,gnomAD
TCN2	P20062	p.Ala88Thr	rs1317871405	missense variant	-	NC_000022.11:g.30612877G>A	gnomAD
TCN2	P20062	p.Phe89Leu	rs35915865	missense variant	-	NC_000022.11:g.30612880T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Phe89Leu	RCV000389989	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30612880T>C	ClinVar
TCN2	P20062	p.Glu91Lys	rs559879608	missense variant	-	NC_000022.11:g.30612886G>A	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Glu91Ter	rs559879608	stop gained	-	NC_000022.11:g.30612886G>T	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Asp92Asn	rs528704555	missense variant	-	NC_000022.11:g.30612889G>A	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Asp93Gly	rs1431134463	missense variant	-	NC_000022.11:g.30612893A>G	TOPMed
TCN2	P20062	p.Gly94Arg	rs11557600	missense variant	-	NC_000022.11:g.30612895G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gly94Ser	rs11557600	missense variant	-	NC_000022.11:g.30612895G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gly94Ser	RCV000585117	missense variant	-	NC_000022.11:g.30612895G>A	ClinVar
TCN2	P20062	p.Cys96Tyr	rs141635240	missense variant	-	NC_000022.11:g.30612902G>A	1000Genomes,ExAC,TOPMed
TCN2	P20062	p.Gln97Pro	rs1473945438	missense variant	-	NC_000022.11:g.30612905A>C	TOPMed
TCN2	P20062	p.Gln97Lys	COSM725924	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30612904C>A	NCI-TCGA Cosmic
TCN2	P20062	p.Gly98Ser	rs759584728	missense variant	-	NC_000022.11:g.30612907G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Lys99Thr	RCV000635260	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30612911A>C	ClinVar
TCN2	P20062	p.Lys99Thr	rs150225103	missense variant	-	NC_000022.11:g.30612911A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Lys99Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.30612910A>T	NCI-TCGA
TCN2	P20062	p.Pro100Leu	rs752901101	missense variant	-	NC_000022.11:g.30612914C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser101Tyr	rs1160042286	missense variant	-	NC_000022.11:g.30612917C>A	gnomAD
TCN2	P20062	p.Ser101Thr	rs1241869286	missense variant	-	NC_000022.11:g.30612916T>A	TOPMed
TCN2	P20062	p.Met102Val	rs763879488	missense variant	-	NC_000022.11:g.30612919A>G	ExAC,gnomAD
TCN2	P20062	p.Gly103Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30612923G>A	NCI-TCGA
TCN2	P20062	p.Gln104Arg	rs887210905	missense variant	-	NC_000022.11:g.30612926A>G	TOPMed,gnomAD
TCN2	P20062	p.Leu105Val	rs751321194	missense variant	-	NC_000022.11:g.30612928C>G	ExAC,gnomAD
TCN2	P20062	p.Leu105Pro	rs757170035	missense variant	-	NC_000022.11:g.30612929T>C	ExAC,gnomAD
TCN2	P20062	p.Ala106Val	rs1417020898	missense variant	-	NC_000022.11:g.30612932C>T	gnomAD
TCN2	P20062	p.Tyr108Cys	rs781309237	missense variant	-	NC_000022.11:g.30612938A>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Tyr108Ter	rs779779694	stop gained	-	NC_000022.11:g.30612939C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Tyr108Ser	rs781309237	missense variant	-	NC_000022.11:g.30612938A>C	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Tyr108Phe	rs781309237	missense variant	-	NC_000022.11:g.30612938A>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala111Thr	rs778150805	missense variant	-	NC_000022.11:g.30612946G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala111Val	rs747369511	missense variant	-	NC_000022.11:g.30612947C>T	ExAC,gnomAD
TCN2	P20062	p.Leu112Phe	rs777103002	missense variant	-	NC_000022.11:g.30612949C>T	ExAC,gnomAD
TCN2	P20062	p.Ala114Thr	rs1212779849	missense variant	-	NC_000022.11:g.30612955G>A	gnomAD
TCN2	P20062	p.Asn115Ser	rs760095757	missense variant	-	NC_000022.11:g.30612959A>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Asn115Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30612960C>A	NCI-TCGA
TCN2	P20062	p.CysGlu116Ter	rs759671133	stop gained	-	NC_000022.11:g.30612963_30612964del	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Phe118Cys	rs199728304	missense variant	-	NC_000022.11:g.30612968T>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Phe118Ser	RCV000307153	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30612968T>C	ClinVar
TCN2	P20062	p.Phe118Ser	rs199728304	missense variant	-	NC_000022.11:g.30612968T>C	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg120Gly	rs775433848	missense variant	-	NC_000022.11:g.30612973A>G	ExAC,gnomAD
TCN2	P20062	p.His122Leu	rs751328971	missense variant	-	NC_000022.11:g.30612980A>T	ExAC
TCN2	P20062	p.His122Asp	rs373115973	missense variant	-	NC_000022.11:g.30612979C>G	ESP,ExAC,gnomAD
TCN2	P20062	p.Lys123Asn	rs767468296	missense variant	-	NC_000022.11:g.30612984G>C	ExAC,gnomAD
TCN2	P20062	p.Lys123Arg	rs368757546	missense variant	-	NC_000022.11:g.30612983A>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Asp125His	rs1375273786	missense variant	-	NC_000022.11:g.30612988G>C	TOPMed,gnomAD
TCN2	P20062	p.Asp125Asn	rs1375273786	missense variant	-	NC_000022.11:g.30612988G>A	TOPMed,gnomAD
TCN2	P20062	p.Arg126Ser	rs756127737	missense variant	-	NC_000022.11:g.30612993G>C	ExAC,gnomAD
TCN2	P20062	p.Arg126Gly	rs552020145	missense variant	-	NC_000022.11:g.30612991A>G	1000Genomes,ExAC,gnomAD
TCN2	P20062	p.Val128Phe	rs779655163	missense variant	-	NC_000022.11:g.30612997G>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser129Leu	rs200868221	missense variant	-	NC_000022.11:g.30613001C>T	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu131Phe	rs747887520	missense variant	-	NC_000022.11:g.30613006C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Lys132Gln	rs1300779566	missense variant	-	NC_000022.11:g.30613009A>C	gnomAD
TCN2	P20062	p.Lys132Arg	COSM3371893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30613010A>G	NCI-TCGA Cosmic
TCN2	P20062	p.Phe134Leu	rs781606712	missense variant	-	NC_000022.11:g.30613017C>G	ExAC,gnomAD
TCN2	P20062	p.Phe134Leu	rs781606712	missense variant	-	NC_000022.11:g.30613017C>A	ExAC,gnomAD
TCN2	P20062	p.Leu135Arg	COSM4103470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30613019T>G	NCI-TCGA Cosmic
TCN2	P20062	p.Glu136Asp	rs886057396	missense variant	-	NC_000022.11:g.30613023G>C	gnomAD
TCN2	P20062	p.Glu136Gly	rs1479587262	missense variant	-	NC_000022.11:g.30613022A>G	gnomAD
TCN2	P20062	p.Glu136Asp	RCV000364136	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30613023G>C	ClinVar
TCN2	P20062	p.Glu136Gly	RCV000507918	missense variant	-	NC_000022.11:g.30613022A>G	ClinVar
TCN2	P20062	p.Asp137Asn	rs775586639	missense variant	-	NC_000022.11:g.30613024G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Asp137Asn	RCV000635257	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30613024G>A	ClinVar
TCN2	P20062	p.Glu138Lys	rs1193277477	missense variant	-	NC_000022.11:g.30613027G>A	TOPMed
TCN2	P20062	p.Lys139Glu	rs1487653650	missense variant	-	NC_000022.11:g.30613030A>G	TOPMed
TCN2	P20062	p.Ala141Gly	rs534564986	missense variant	-	NC_000022.11:g.30613037C>G	1000Genomes,ExAC,gnomAD
TCN2	P20062	p.Ala141Thr	rs762973293	missense variant	-	NC_000022.11:g.30613036G>A	ExAC,gnomAD
TCN2	P20062	p.Ile142Val	rs200771616	missense variant	-	NC_000022.11:g.30613039A>G	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ile142Thr	rs200483369	missense variant	-	NC_000022.11:g.30613040T>C	1000Genomes,ExAC,gnomAD
TCN2	P20062	p.Gly143Val	rs1357321229	missense variant	-	NC_000022.11:g.30614349G>T	gnomAD
TCN2	P20062	p.His144Asp	rs747296848	missense variant	-	NC_000022.11:g.30614351C>G	ExAC,gnomAD
TCN2	P20062	p.His144Tyr	rs747296848	missense variant	-	NC_000022.11:g.30614351C>T	ExAC,gnomAD
TCN2	P20062	p.His146Tyr	rs1015262047	missense variant	-	NC_000022.11:g.30614357C>T	TOPMed
TCN2	P20062	p.His149Arg	rs1414047053	missense variant	-	NC_000022.11:g.30614367A>G	TOPMed
TCN2	P20062	p.His149Tyr	rs1200083311	missense variant	-	NC_000022.11:g.30614366C>T	gnomAD
TCN2	P20062	p.His149Gln	rs770630089	missense variant	-	NC_000022.11:g.30614368C>A	ExAC,gnomAD
TCN2	P20062	p.Pro150Ser	rs776493564	missense variant	-	NC_000022.11:g.30614369C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Pro150Thr	rs776493564	missense variant	-	NC_000022.11:g.30614369C>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Pro150Ala	rs776493564	missense variant	-	NC_000022.11:g.30614369C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.His151Leu	rs1472234344	missense variant	-	NC_000022.11:g.30614373A>T	TOPMed
TCN2	P20062	p.Thr152Pro	rs1282431048	missense variant	-	NC_000022.11:g.30614375A>C	gnomAD
TCN2	P20062	p.Thr152Ile	rs759330825	missense variant	-	NC_000022.11:g.30614376C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Tyr154Cys	rs1282866254	missense variant	-	NC_000022.11:g.30614382A>G	gnomAD
TCN2	P20062	p.Gln156Pro	rs1187936976	missense variant	-	NC_000022.11:g.30614388A>C	TOPMed,gnomAD
TCN2	P20062	p.Gln156Arg	rs1187936976	missense variant	-	NC_000022.11:g.30614388A>G	TOPMed,gnomAD
TCN2	P20062	p.Gln156Leu	rs1187936976	missense variant	-	NC_000022.11:g.30614388A>T	TOPMed,gnomAD
TCN2	P20062	p.Tyr157Ter	rs762414295	stop gained	-	NC_000022.11:g.30614392T>G	ExAC,gnomAD
TCN2	P20062	p.Tyr157His	rs369762215	missense variant	-	NC_000022.11:g.30614390T>C	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Tyr157Cys	rs1470199585	missense variant	-	NC_000022.11:g.30614391A>G	gnomAD
TCN2	P20062	p.Leu159Pro	rs1201200171	missense variant	-	NC_000022.11:g.30614397T>C	TOPMed
TCN2	P20062	p.Ile161Thr	rs763642038	missense variant	-	NC_000022.11:g.30614403T>C	ExAC,gnomAD
TCN2	P20062	p.Leu162Val	rs1330557305	missense variant	-	NC_000022.11:g.30614405C>G	TOPMed
TCN2	P20062	p.Ala163Ser	rs751199750	missense variant	-	NC_000022.11:g.30614408G>T	ExAC,gnomAD
TCN2	P20062	p.Ala163Gly	rs761592230	missense variant	-	NC_000022.11:g.30614409C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala163Val	rs761592230	missense variant	-	NC_000022.11:g.30614409C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu164Met	rs754253807	missense variant	-	NC_000022.11:g.30614411C>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu166Ter	RCV000431820	frameshift	-	NC_000022.11:g.30614416_30614417TC[1]	ClinVar
TCN2	P20062	p.Leu166Ter	RCV000624115	frameshift	Inborn genetic diseases	NC_000022.11:g.30614416_30614417TC[1]	ClinVar
TCN2	P20062	p.Leu166Ter	RCV000779370	frameshift	Transcobalamin II deficiency	NC_000022.11:g.30614416_30614417TC[1]	ClinVar
TCN2	P20062	p.Leu166Val	rs1444480553	missense variant	-	NC_000022.11:g.30614417C>G	TOPMed,gnomAD
TCN2	P20062	p.Leu166Phe	rs1444480553	missense variant	-	NC_000022.11:g.30614417C>T	TOPMed,gnomAD
TCN2	P20062	p.His167Leu	rs200303429	missense variant	-	NC_000022.11:g.30614421A>T	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.His167Tyr	rs1450759048	missense variant	-	NC_000022.11:g.30614420C>T	TOPMed
TCN2	P20062	p.Gln168Glu	rs1305877156	missense variant	-	NC_000022.11:g.30614423C>G	gnomAD
TCN2	P20062	p.Gln168Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30614424A>T	NCI-TCGA
TCN2	P20062	p.Lys169Arg	rs1161871032	missense variant	-	NC_000022.11:g.30614427A>G	TOPMed,gnomAD
TCN2	P20062	p.Arg170Trp	rs200135085	missense variant	-	NC_000022.11:g.30614429C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg170Gln	rs117353193	missense variant	-	NC_000022.11:g.30614430G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg170Gln	RCV000266262	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30614430G>A	ClinVar
TCN2	P20062	p.Val171Ile	rs771200795	missense variant	-	NC_000022.11:g.30614432G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Val171Phe	rs771200795	missense variant	-	NC_000022.11:g.30614432G>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.His172Leu	rs529354366	missense variant	-	NC_000022.11:g.30614436A>T	1000Genomes,ExAC,gnomAD
TCN2	P20062	p.His172Arg	rs529354366	missense variant	-	NC_000022.11:g.30614436A>G	1000Genomes,ExAC,gnomAD
TCN2	P20062	p.Ser174Asn	rs375193056	missense variant	-	NC_000022.11:g.30614442G>A	TOPMed,gnomAD
TCN2	P20062	p.Ser174Cys	rs1193937094	missense variant	-	NC_000022.11:g.30614441A>T	gnomAD
TCN2	P20062	p.Val175Met	rs142791153	missense variant	-	NC_000022.11:g.30614444G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Val175Met	RCV000635264	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30614444G>A	ClinVar
TCN2	P20062	p.Asp177Asn	rs773855163	missense variant	-	NC_000022.11:g.30614450G>A	ExAC,gnomAD
TCN2	P20062	p.Asp177Gly	rs1207627059	missense variant	-	NC_000022.11:g.30614451A>G	TOPMed
TCN2	P20062	p.Leu179Ile	rs1326736452	missense variant	-	NC_000022.11:g.30614456C>A	TOPMed,gnomAD
TCN2	P20062	p.Leu180Pro	rs142651651	missense variant	-	NC_000022.11:g.30614460T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Tyr181His	rs1244849533	missense variant	-	NC_000022.11:g.30614462T>C	TOPMed,gnomAD
TCN2	P20062	p.Tyr181Cys	rs376685318	missense variant	-	NC_000022.11:g.30614463A>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala182Thr	rs368792336	missense variant	-	NC_000022.11:g.30614465G>A	ESP,gnomAD
TCN2	P20062	p.Val183Met	rs201925682	missense variant	-	NC_000022.11:g.30614468G>A	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Val183Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30614468G>T	NCI-TCGA
TCN2	P20062	p.Glu184Gly	rs1234046185	missense variant	-	NC_000022.11:g.30614472A>G	gnomAD
TCN2	P20062	p.Glu184Gln	rs1298409889	missense variant	-	NC_000022.11:g.30614471G>C	TOPMed
TCN2	P20062	p.Pro185Leu	rs146009793	missense variant	-	NC_000022.11:g.30614475C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Pro185Ser	rs759922664	missense variant	-	NC_000022.11:g.30614474C>T	ExAC,gnomAD
TCN2	P20062	p.Pro185Ala	rs759922664	missense variant	-	NC_000022.11:g.30614474C>G	ExAC,gnomAD
TCN2	P20062	p.Pro185Thr	rs759922664	missense variant	-	NC_000022.11:g.30614474C>A	ExAC,gnomAD
TCN2	P20062	p.Pro185Leu	RCV000323191	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30614475C>T	ClinVar
TCN2	P20062	p.Phe186Ser	rs571843449	missense variant	-	NC_000022.11:g.30614478T>C	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.His187Tyr	rs1295178933	missense variant	-	NC_000022.11:g.30614480C>T	TOPMed
TCN2	P20062	p.Gln188Ter	RCV000622503	nonsense	Inborn genetic diseases	NC_000022.11:g.30614483C>T	ClinVar
TCN2	P20062	p.Gln188Ter	rs1456983114	stop gained	-	NC_000022.11:g.30614483C>T	gnomAD
TCN2	P20062	p.Gln188Arg	rs1213703970	missense variant	-	NC_000022.11:g.30614484A>G	gnomAD
TCN2	P20062	p.Gly189Asp	rs777945731	missense variant	-	NC_000022.11:g.30614487G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.His190Arg	rs781440675	missense variant	-	NC_000022.11:g.30614490A>G	ExAC,gnomAD
TCN2	P20062	p.His190Tyr	rs757378346	missense variant	-	NC_000022.11:g.30614489C>T	ExAC,gnomAD
TCN2	P20062	p.His191Arg	rs151172486	missense variant	-	NC_000022.11:g.30614493A>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser192Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30614496C>T	NCI-TCGA
TCN2	P20062	p.Asp194Glu	rs762023960	missense variant	-	NC_000022.11:g.30615302C>A	ExAC
TCN2	P20062	p.Ala196Val	rs766558182	missense variant	-	NC_000022.11:g.30615307C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala196Glu	rs766558182	missense variant	-	NC_000022.11:g.30615307C>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala197Val	rs754756700	missense variant	-	NC_000022.11:g.30615310C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala197Gly	rs754756700	missense variant	-	NC_000022.11:g.30615310C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala197Ser	rs754108422	missense variant	-	NC_000022.11:g.30615309G>T	ExAC,gnomAD
TCN2	P20062	p.Met198Val	rs1294318583	missense variant	-	NC_000022.11:g.30615312A>G	gnomAD
TCN2	P20062	p.Met198Thr	VAR_001638	Missense	-	-	UniProt
TCN2	P20062	p.Ala199Val	rs568757292	missense variant	-	NC_000022.11:g.30615316C>T	1000Genomes,gnomAD
TCN2	P20062	p.Ala199Ser	rs1251569284	missense variant	-	NC_000022.11:g.30615315G>T	TOPMed
TCN2	P20062	p.Leu201Phe	rs767980244	missense variant	-	NC_000022.11:g.30615323G>C	gnomAD
TCN2	P20062	p.Ala202Val	rs778641068	missense variant	-	NC_000022.11:g.30615325C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Thr204Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30615330A>G	NCI-TCGA
TCN2	P20062	p.Cys205Arg	rs748055258	missense variant	-	NC_000022.11:g.30615333T>C	ExAC,gnomAD
TCN2	P20062	p.Cys205Gly	rs748055258	missense variant	-	NC_000022.11:g.30615333T>G	ExAC,gnomAD
TCN2	P20062	p.Leu206Pro	rs1254190919	missense variant	-	NC_000022.11:g.30615337T>C	gnomAD
TCN2	P20062	p.Leu206Val	rs758284185	missense variant	-	NC_000022.11:g.30615336C>G	ExAC,gnomAD
TCN2	P20062	p.Arg208His	rs150472705	missense variant	-	NC_000022.11:g.30615343G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg208Cys	rs773590736	missense variant	-	NC_000022.11:g.30615342C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser209Pro	rs770602221	missense variant	-	NC_000022.11:g.30615345T>C	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser209Ter	rs796064505	stop gained	-	NC_000022.11:g.30615346C>G	-
TCN2	P20062	p.Ser209Ter	RCV000190379	nonsense	Transcobalamin II deficiency	NC_000022.11:g.30615346C>G	ClinVar
TCN2	P20062	p.Asn210Asp	rs1436133751	missense variant	-	NC_000022.11:g.30615348A>G	gnomAD
TCN2	P20062	p.Asn210Lys	rs1178324711	missense variant	-	NC_000022.11:g.30615350C>G	TOPMed,gnomAD
TCN2	P20062	p.Phe211Leu	rs780965885	missense variant	-	NC_000022.11:g.30615353C>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Phe211Val	rs1327719258	missense variant	-	NC_000022.11:g.30615351T>G	TOPMed
TCN2	P20062	p.Asn212His	rs745570731	missense variant	-	NC_000022.11:g.30615354A>C	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Pro213Leu	rs774581238	missense variant	-	NC_000022.11:g.30615358C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Pro213Arg	rs774581238	missense variant	-	NC_000022.11:g.30615358C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Pro213Ser	rs1258577765	missense variant	-	NC_000022.11:g.30615357C>T	gnomAD
TCN2	P20062	p.Gly214Asp	rs372458211	missense variant	-	NC_000022.11:g.30615361G>A	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg215Trp	RCV000259877	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30615363C>T	ClinVar
TCN2	P20062	p.Arg215Gln	rs760721315	missense variant	-	NC_000022.11:g.30615364G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg215Trp	rs35838082	missense variant	-	NC_000022.11:g.30615363C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg215Gln	RCV000317458	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30615364G>A	ClinVar
TCN2	P20062	p.Arg218Trp	rs754057087	missense variant	-	NC_000022.11:g.30615372C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg218Gln	rs759762355	missense variant	-	NC_000022.11:g.30615373G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ile219Met	rs1049460608	missense variant	-	NC_000022.11:g.30615377C>G	gnomAD
TCN2	P20062	p.Ile219Leu	VAR_001639	Missense	-	-	UniProt
TCN2	P20062	p.Met221Val	rs765026548	missense variant	-	NC_000022.11:g.30615381A>G	ExAC,gnomAD
TCN2	P20062	p.Met221Thr	rs1204447234	missense variant	-	NC_000022.11:g.30615382T>C	TOPMed
TCN2	P20062	p.Ala222Thr	rs1460799882	missense variant	-	NC_000022.11:g.30615384G>A	TOPMed
TCN2	P20062	p.Ile223Val	rs144889471	missense variant	-	NC_000022.11:g.30615387A>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg224Thr	rs758319550	missense variant	-	NC_000022.11:g.30615391G>C	ExAC,gnomAD
TCN2	P20062	p.Thr225Ala	rs777537964	missense variant	-	NC_000022.11:g.30615393A>G	ExAC,gnomAD
TCN2	P20062	p.Arg227Ter	rs1198019350	stop gained	-	NC_000022.11:g.30615399C>T	gnomAD
TCN2	P20062	p.Arg227Gln	rs17849434	missense variant	-	NC_000022.11:g.30615400G>A	UniProt,dbSNP
TCN2	P20062	p.Arg227Gln	VAR_054542	missense variant	-	NC_000022.11:g.30615400G>A	UniProt
TCN2	P20062	p.Arg227Gln	rs17849434	missense variant	-	NC_000022.11:g.30615400G>A	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg227Pro	rs17849434	missense variant	-	NC_000022.11:g.30615400G>C	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg227Gly	rs1198019350	missense variant	-	NC_000022.11:g.30615399C>G	gnomAD
TCN2	P20062	p.Glu229Lys	rs745446091	missense variant	-	NC_000022.11:g.30615405G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ile230Met	rs779288271	missense variant	-	NC_000022.11:g.30615410C>G	ExAC,gnomAD
TCN2	P20062	p.Ile230Phe	rs769342461	missense variant	-	NC_000022.11:g.30615408A>T	ExAC,gnomAD
TCN2	P20062	p.Lys232Thr	rs1371777581	missense variant	-	NC_000022.11:g.30615415A>C	gnomAD
TCN2	P20062	p.Ala233Thr	rs773696048	missense variant	-	NC_000022.11:g.30615417G>A	ExAC,gnomAD
TCN2	P20062	p.Gln234Glu	rs770932162	missense variant	-	NC_000022.11:g.30615420C>G	ExAC,gnomAD
TCN2	P20062	p.Gln234Pro	rs145641025	missense variant	-	NC_000022.11:g.30615421A>C	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Thr235Ile	rs765413082	missense variant	-	NC_000022.11:g.30615424C>T	ExAC,gnomAD
TCN2	P20062	p.Thr235Asn	rs765413082	missense variant	-	NC_000022.11:g.30615424C>A	ExAC,gnomAD
TCN2	P20062	p.Pro236Ser	rs1382507371	missense variant	-	NC_000022.11:g.30615426C>T	gnomAD
TCN2	P20062	p.Pro236His	COSM1033317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615427C>A	NCI-TCGA Cosmic
TCN2	P20062	p.Glu237Lys	COSM4825027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615429G>A	NCI-TCGA Cosmic
TCN2	P20062	p.His239Arg	rs1338313632	missense variant	-	NC_000022.11:g.30615436A>G	gnomAD
TCN2	P20062	p.Phe240Leu	rs368425204	missense variant	-	NC_000022.11:g.30615440T>A	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Phe240Tyr	rs764004134	missense variant	-	NC_000022.11:g.30615439T>A	ExAC
TCN2	P20062	p.Phe240Leu	rs368425204	missense variant	-	NC_000022.11:g.30615440T>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Phe240Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30615438T>C	NCI-TCGA
TCN2	P20062	p.Gly241Glu	rs1336982635	missense variant	-	NC_000022.11:g.30615442G>A	gnomAD
TCN2	P20062	p.Gly241Arg	rs1273929738	missense variant	-	NC_000022.11:g.30615441G>A	TOPMed,gnomAD
TCN2	P20062	p.Tyr244Ser	rs1042954108	missense variant	-	NC_000022.11:g.30615451A>C	TOPMed
TCN2	P20062	p.Tyr244Cys	rs1042954108	missense variant	-	NC_000022.11:g.30615451A>G	TOPMed
TCN2	P20062	p.Ser245Gly	rs749974534	missense variant	-	NC_000022.11:g.30615453A>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser245Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30615454G>T	NCI-TCGA
TCN2	P20062	p.Thr246Ile	rs147738100	missense variant	-	NC_000022.11:g.30615457C>T	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala249Val	COSM4103472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615466C>T	NCI-TCGA Cosmic
TCN2	P20062	p.Phe252Leu	rs142553702	missense variant	-	NC_000022.11:g.30615603C>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu253Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30615604C>A	NCI-TCGA
TCN2	P20062	p.Met254Thr	rs757600574	missense variant	-	NC_000022.11:g.30615608T>C	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser256Ala	rs752978666	missense variant	-	NC_000022.11:g.30615613T>G	TOPMed
TCN2	P20062	p.Ser256Pro	rs752978666	missense variant	-	NC_000022.11:g.30615613T>C	TOPMed
TCN2	P20062	p.Ser256Ter	RCV000537950	frameshift	Transcobalamin II deficiency	NC_000022.11:g.30615613dup	ClinVar
TCN2	P20062	p.Ser256Phe	COSM5393411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615614C>T	NCI-TCGA Cosmic
TCN2	P20062	p.Pro257Arg	rs1442158089	missense variant	-	NC_000022.11:g.30615617C>G	gnomAD
TCN2	P20062	p.Pro257Ala	rs1005701580	missense variant	-	NC_000022.11:g.30615616C>G	TOPMed,gnomAD
TCN2	P20062	p.Pro257Ser	rs1005701580	missense variant	-	NC_000022.11:g.30615616C>T	TOPMed,gnomAD
TCN2	P20062	p.Met258Thr	rs113331651	missense variant	-	NC_000022.11:g.30615620T>C	ExAC,gnomAD
TCN2	P20062	p.Met258Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30615620T>A	NCI-TCGA
TCN2	P20062	p.Met258CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.30615614C>-	NCI-TCGA
TCN2	P20062	p.Met258Ter	RCV000506598	frameshift	-	NC_000022.11:g.30615613_30615614dup	ClinVar
TCN2	P20062	p.Met258Val	rs781666065	missense variant	-	NC_000022.11:g.30615619A>G	ExAC,gnomAD
TCN2	P20062	p.Arg259Pro	rs1801198	missense variant	-	NC_000022.11:g.30615623G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg259His	rs1801198	missense variant	-	NC_000022.11:g.30615623G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg259Cys	rs201501842	missense variant	-	NC_000022.11:g.30615622C>T	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg259Pro	RCV000374451	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30615623G>C	ClinVar
TCN2	P20062	p.Arg259Pro	RCV000454394	missense variant	-	NC_000022.11:g.30615623G>C	ClinVar
TCN2	P20062	p.Arg259Pro	RCV000000117	missense variant	TCN2 POLYMORPHISM	NC_000022.11:g.30615623G>C	ClinVar
TCN2	P20062	p.Gly260Trp	rs768896953	missense variant	-	NC_000022.11:g.30615625G>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gly260Arg	rs768896953	missense variant	-	NC_000022.11:g.30615625G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gly260Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30615626G>A	NCI-TCGA
TCN2	P20062	p.Ala261Val	rs779255018	missense variant	-	NC_000022.11:g.30615629C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala261Thr	rs896813483	missense variant	-	NC_000022.11:g.30615628G>A	TOPMed,gnomAD
TCN2	P20062	p.Ala261Glu	rs779255018	missense variant	-	NC_000022.11:g.30615629C>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Glu262Gln	rs61743653	missense variant	-	NC_000022.11:g.30615631G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu263Val	rs201848801	missense variant	-	NC_000022.11:g.30615634C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Cys267Phe	rs1476885074	missense variant	-	NC_000022.11:g.30615647G>T	gnomAD
TCN2	P20062	p.Cys267Arg	rs1036041702	missense variant	-	NC_000022.11:g.30615646T>C	TOPMed
TCN2	P20062	p.Cys267Tyr	rs1476885074	missense variant	-	NC_000022.11:g.30615647G>A	gnomAD
TCN2	P20062	p.Ala270Ser	rs1329472979	missense variant	-	NC_000022.11:g.30615655G>T	TOPMed
TCN2	P20062	p.Ala270Val	rs201392026	missense variant	-	NC_000022.11:g.30615656C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala270Val	RCV000635258	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30615656C>T	ClinVar
TCN2	P20062	p.Arg271Ser	rs1399886265	missense variant	-	NC_000022.11:g.30615660G>T	gnomAD
TCN2	P20062	p.Val272Gly	rs1325716749	missense variant	-	NC_000022.11:g.30615662T>G	gnomAD
TCN2	P20062	p.Val272Ile	rs796472626	missense variant	-	NC_000022.11:g.30615661G>A	TOPMed,gnomAD
TCN2	P20062	p.Val272Phe	rs796472626	missense variant	-	NC_000022.11:g.30615661G>T	TOPMed,gnomAD
TCN2	P20062	p.Val272Ala	COSM6018183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615662T>C	NCI-TCGA Cosmic
TCN2	P20062	p.Ser277Asn	rs550053635	missense variant	-	NC_000022.11:g.30615677G>A	1000Genomes,TOPMed
TCN2	P20062	p.Ser277Ile	rs550053635	missense variant	-	NC_000022.11:g.30615677G>T	1000Genomes,TOPMed
TCN2	P20062	p.Ser277Gly	rs1364674541	missense variant	-	NC_000022.11:g.30615676A>G	gnomAD
TCN2	P20062	p.Leu278Val	rs1345486535	missense variant	-	NC_000022.11:g.30615679C>G	gnomAD
TCN2	P20062	p.Gly281Glu	rs1255641456	missense variant	-	NC_000022.11:g.30615689G>A	gnomAD
TCN2	P20062	p.Gln284Arg	rs1316694869	missense variant	-	NC_000022.11:g.30615698A>G	gnomAD
TCN2	P20062	p.Asn285Lys	rs376839271	missense variant	-	NC_000022.11:g.30615702T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala286Val	rs149231407	missense variant	-	NC_000022.11:g.30615704C>T	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu287Phe	rs369458782	missense variant	-	NC_000022.11:g.30615706C>T	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Met288Val	rs755104359	missense variant	-	NC_000022.11:g.30615709A>G	ExAC,gnomAD
TCN2	P20062	p.Ile289Val	rs779140403	missense variant	-	NC_000022.11:g.30615712A>G	ExAC
TCN2	P20062	p.Ser290Phe	rs1310755156	missense variant	-	NC_000022.11:g.30615716C>T	TOPMed
TCN2	P20062	p.Ser290Ala	rs1423032257	missense variant	-	NC_000022.11:g.30615715T>G	gnomAD
TCN2	P20062	p.Gln291Ter	rs1461973241	stop gained	-	NC_000022.11:g.30615718C>T	TOPMed,gnomAD
TCN2	P20062	p.Gln291Ter	RCV000579082	nonsense	-	NC_000022.11:g.30615718C>T	ClinVar
TCN2	P20062	p.Leu293Val	COSM2937338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615724C>G	NCI-TCGA Cosmic
TCN2	P20062	p.Pro294Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30615727C>T	NCI-TCGA
TCN2	P20062	p.Pro294Leu	COSM3553373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615728C>T	NCI-TCGA Cosmic
TCN2	P20062	p.Val295Phe	rs770684965	missense variant	-	NC_000022.11:g.30615730G>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Val295Ile	rs770684965	missense variant	-	NC_000022.11:g.30615730G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Val295Ala	COSM1033319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615731T>C	NCI-TCGA Cosmic
TCN2	P20062	p.Leu296Val	rs553954429	missense variant	-	NC_000022.11:g.30615733C>G	1000Genomes,ExAC,gnomAD
TCN2	P20062	p.Asn297Lys	rs759533329	missense variant	-	NC_000022.11:g.30615738C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.His298Tyr	rs769224521	missense variant	-	NC_000022.11:g.30615739C>T	ExAC,gnomAD
TCN2	P20062	p.His298Gln	rs762540902	missense variant	-	NC_000022.11:g.30615741C>G	ExAC,gnomAD
TCN2	P20062	p.His298Arg	rs774991049	missense variant	-	NC_000022.11:g.30615740A>G	ExAC,gnomAD
TCN2	P20062	p.Thr300Ala	rs1346672980	missense variant	-	NC_000022.11:g.30615745A>G	TOPMed
TCN2	P20062	p.Thr300Ile	rs763836785	missense variant	-	NC_000022.11:g.30615746C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Tyr301Cys	rs751209025	missense variant	-	NC_000022.11:g.30615749A>G	ExAC
TCN2	P20062	p.Ile302Val	rs766711932	missense variant	-	NC_000022.11:g.30615751A>G	ExAC,TOPMed
TCN2	P20062	p.Ile302Thr	rs754330583	missense variant	-	NC_000022.11:g.30615752T>C	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu304Val	rs953306184	missense variant	-	NC_000022.11:g.30615757C>G	TOPMed,gnomAD
TCN2	P20062	p.Ile305Val	rs1189684372	missense variant	-	NC_000022.11:g.30615760A>G	gnomAD
TCN2	P20062	p.Phe306Leu	rs765360226	missense variant	-	NC_000022.11:g.30615763T>C	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Phe306Val	COSM3553374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615763T>G	NCI-TCGA Cosmic
TCN2	P20062	p.Pro307Leu	rs1418182262	missense variant	-	NC_000022.11:g.30615767C>T	gnomAD
TCN2	P20062	p.Pro307Ser	rs1382568858	missense variant	-	NC_000022.11:g.30615766C>T	gnomAD
TCN2	P20062	p.Cys309Ser	rs1396153308	missense variant	-	NC_000022.11:g.30615773G>C	gnomAD
TCN2	P20062	p.Cys309Trp	rs1335580225	missense variant	-	NC_000022.11:g.30615774T>G	gnomAD
TCN2	P20062	p.Cys309Tyr	rs1396153308	missense variant	-	NC_000022.11:g.30615773G>A	gnomAD
TCN2	P20062	p.Cys309Ter	RCV000000116	frameshift	Transcobalamin II deficiency	NC_000022.11:g.30615774_30615777del	ClinVar
TCN2	P20062	p.Leu310Met	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30615775C>A	NCI-TCGA
TCN2	P20062	p.Pro312Ser	rs1338148384	missense variant	-	NC_000022.11:g.30615781C>T	gnomAD
TCN2	P20062	p.Arg313Ter	rs747257199	stop gained	-	NC_000022.11:g.30615784C>T	ExAC,gnomAD
TCN2	P20062	p.Arg313Gly	rs747257199	missense variant	-	NC_000022.11:g.30615784C>G	ExAC,gnomAD
TCN2	P20062	p.Arg313Gln	rs576306465	missense variant	-	NC_000022.11:g.30615785G>A	1000Genomes
TCN2	P20062	p.Met315Thr	rs764172898	missense variant	-	NC_000022.11:g.30617333T>C	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Met315Ile	rs1330424607	missense variant	-	NC_000022.11:g.30617334G>A	gnomAD
TCN2	P20062	p.Met315Val	rs763378428	missense variant	-	NC_000022.11:g.30617332A>G	ExAC,gnomAD
TCN2	P20062	p.Pro318Leu	rs1219369285	missense variant	-	NC_000022.11:g.30617342C>T	gnomAD
TCN2	P20062	p.Ala320Gly	rs762058410	missense variant	-	NC_000022.11:g.30617348C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala320Val	rs762058410	missense variant	-	NC_000022.11:g.30617348C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Glu321Lys	rs1316088667	missense variant	-	NC_000022.11:g.30617350G>A	gnomAD
TCN2	P20062	p.Glu321Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30617352G>C	NCI-TCGA
TCN2	P20062	p.Thr322Ile	rs983633500	missense variant	-	NC_000022.11:g.30617354C>T	TOPMed,gnomAD
TCN2	P20062	p.Pro324Ser	rs149299209	missense variant	-	NC_000022.11:g.30617359C>T	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gln325His	rs1208413292	missense variant	-	NC_000022.11:g.30617364G>C	gnomAD
TCN2	P20062	p.Gln325Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30617362C>G	NCI-TCGA
TCN2	P20062	p.Thr326Ile	rs1267319234	missense variant	-	NC_000022.11:g.30617366C>T	gnomAD
TCN2	P20062	p.Gln327Arg	rs1196409692	missense variant	-	NC_000022.11:g.30617369A>G	gnomAD
TCN2	P20062	p.Glu328Lys	rs1294824435	missense variant	-	NC_000022.11:g.30617371G>A	TOPMed
TCN2	P20062	p.Ile329Val	rs1425164489	missense variant	-	NC_000022.11:g.30617374A>G	gnomAD
TCN2	P20062	p.Ile329Met	rs755892011	missense variant	-	NC_000022.11:g.30617376C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ile329Phe	rs1425164489	missense variant	-	NC_000022.11:g.30617374A>T	gnomAD
TCN2	P20062	p.Ile329Asn	rs1357414952	missense variant	-	NC_000022.11:g.30617375T>A	gnomAD
TCN2	P20062	p.Ile330Val	rs1169605273	missense variant	-	NC_000022.11:g.30617377A>G	gnomAD
TCN2	P20062	p.Ser331Asn	rs779891790	missense variant	-	NC_000022.11:g.30617381G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser331Ile	rs779891790	missense variant	-	NC_000022.11:g.30617381G>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Val332Ile	rs1459292448	missense variant	-	NC_000022.11:g.30617383G>A	gnomAD
TCN2	P20062	p.Thr333Met	rs117458738	missense variant	-	NC_000022.11:g.30617387C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Thr333Lys	rs117458738	missense variant	-	NC_000022.11:g.30617387C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Thr333Met	RCV000307632	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30617387C>T	ClinVar
TCN2	P20062	p.Gln335Glu	rs771755125	missense variant	-	NC_000022.11:g.30617392C>G	ExAC,gnomAD
TCN2	P20062	p.Val336Met	rs1279948941	missense variant	-	NC_000022.11:g.30617395G>A	TOPMed,gnomAD
TCN2	P20062	p.Val336Leu	rs1279948941	missense variant	-	NC_000022.11:g.30617395G>T	TOPMed,gnomAD
TCN2	P20062	p.Val336Gly	rs890166383	missense variant	-	NC_000022.11:g.30617396T>G	gnomAD
TCN2	P20062	p.Leu337Ile	COSM1033320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30617398C>A	NCI-TCGA Cosmic
TCN2	P20062	p.Ser338Arg	rs1193032547	missense variant	-	NC_000022.11:g.30617401A>C	TOPMed
TCN2	P20062	p.Leu339Phe	rs1218083741	missense variant	-	NC_000022.11:g.30617404C>T	gnomAD
TCN2	P20062	p.Pro341Leu	rs1017195499	missense variant	-	NC_000022.11:g.30617411C>T	TOPMed,gnomAD
TCN2	P20062	p.Pro341Ala	rs746722274	missense variant	-	NC_000022.11:g.30617410C>G	ExAC,gnomAD
TCN2	P20062	p.Pro341Thr	rs746722274	missense variant	-	NC_000022.11:g.30617410C>A	ExAC,gnomAD
TCN2	P20062	p.Pro342Leu	rs1488789147	missense variant	-	NC_000022.11:g.30617414C>T	TOPMed,gnomAD
TCN2	P20062	p.Pro342Arg	rs1488789147	missense variant	-	NC_000022.11:g.30617414C>G	TOPMed,gnomAD
TCN2	P20062	p.Arg344Ser	rs763471940	missense variant	-	NC_000022.11:g.30617421A>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gln345Ter	rs769078432	stop gained	-	NC_000022.11:g.30617422C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gln345Pro	rs774964870	missense variant	-	NC_000022.11:g.30617423A>C	ExAC,gnomAD
TCN2	P20062	p.Ile347Thr	rs1325745251	missense variant	-	NC_000022.11:g.30617429T>C	TOPMed
TCN2	P20062	p.Ile347Val	rs761778896	missense variant	-	NC_000022.11:g.30617428A>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ile347Phe	rs761778896	missense variant	-	NC_000022.11:g.30617428A>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser348Phe	rs9621049	missense variant	-	NC_000022.11:g.30617432C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser348Cys	rs9621049	missense variant	-	NC_000022.11:g.30617432C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser348Phe	RCV000301606	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30617432C>T	ClinVar
TCN2	P20062	p.Leu350Val	rs766113719	missense variant	-	NC_000022.11:g.30617437C>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gly352Glu	rs778691896	missense variant	-	NC_000022.11:g.30617444G>A	ExAC,gnomAD
TCN2	P20062	p.Gly352Arg	rs754840231	missense variant	-	NC_000022.11:g.30617443G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser353Cys	rs539987014	missense variant	-	NC_000022.11:g.30617447C>G	1000Genomes,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser353Cys	RCV000358787	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30617447C>G	ClinVar
TCN2	P20062	p.Thr354Ile	rs777423077	missense variant	-	NC_000022.11:g.30617450C>T	ExAC,gnomAD
TCN2	P20062	p.Thr354Ala	rs1191654085	missense variant	-	NC_000022.11:g.30617449A>G	TOPMed
TCN2	P20062	p.Thr354Ser	rs777423077	missense variant	-	NC_000022.11:g.30617450C>G	ExAC,gnomAD
TCN2	P20062	p.Val355Met	rs780429477	missense variant	-	NC_000022.11:g.30617452G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Lys361Asn	rs774709671	missense variant	-	NC_000022.11:g.30617472G>T	ExAC,gnomAD
TCN2	P20062	p.Ala362Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30617474C>T	NCI-TCGA
TCN2	P20062	p.Ala362Ser	rs1237571997	missense variant	-	NC_000022.11:g.30617473G>T	TOPMed,gnomAD
TCN2	P20062	p.Ala362Pro	rs1237571997	missense variant	-	NC_000022.11:g.30617473G>C	TOPMed,gnomAD
TCN2	P20062	p.His363Arg	rs915080738	missense variant	-	NC_000022.11:g.30617477A>G	TOPMed,gnomAD
TCN2	P20062	p.His363Gln	rs772074405	missense variant	-	NC_000022.11:g.30617478T>G	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Glu364Val	rs1440142843	missense variant	-	NC_000022.11:g.30617480A>T	gnomAD
TCN2	P20062	p.Gly366Arg	rs773294559	missense variant	-	NC_000022.11:g.30617485G>A	ExAC,gnomAD
TCN2	P20062	p.Gly367Ter	rs1057520098	stop gained	-	NC_000022.11:g.30617488G>T	gnomAD
TCN2	P20062	p.Gly367Ter	RCV000434122	nonsense	-	NC_000022.11:g.30617488G>T	ClinVar
TCN2	P20062	p.Thr369Arg	rs376218060	missense variant	-	NC_000022.11:g.30617495C>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Thr369Ile	rs376218060	missense variant	-	NC_000022.11:g.30617495C>T	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Tyr370Cys	rs1406364381	missense variant	-	NC_000022.11:g.30622970A>G	gnomAD
TCN2	P20062	p.Tyr370Ter	rs369589347	stop gained	-	NC_000022.11:g.30622971T>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Glu371Lys	rs755806129	missense variant	-	NC_000022.11:g.30622972G>A	ExAC,gnomAD
TCN2	P20062	p.Gln373Arg	rs1248431547	missense variant	-	NC_000022.11:g.30622979A>G	TOPMed,gnomAD
TCN2	P20062	p.Gln373Ter	rs1279321570	stop gained	-	NC_000022.11:g.30622978C>T	gnomAD
TCN2	P20062	p.Ala374Thr	rs1222777419	missense variant	-	NC_000022.11:g.30622981G>A	TOPMed
TCN2	P20062	p.Ser375Phe	rs11557601	missense variant	-	NC_000022.11:g.30622985C>T	ESP,ExAC
TCN2	P20062	p.Leu376Ser	rs1131603	missense variant	-	NC_000022.11:g.30622988T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu376Ser	rs1131603	missense variant	-	NC_000022.11:g.30622988T>C	UniProt,dbSNP
TCN2	P20062	p.Leu376Ser	VAR_001641	missense variant	-	NC_000022.11:g.30622988T>C	UniProt
TCN2	P20062	p.Leu376Phe	rs778237937	missense variant	-	NC_000022.11:g.30622989G>T	ExAC,gnomAD
TCN2	P20062	p.Leu376Ser	RCV000305468	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30622988T>C	ClinVar
TCN2	P20062	p.Ser377Ter	rs576197525	stop gained	-	NC_000022.11:g.30622991C>G	1000Genomes,ExAC,gnomAD
TCN2	P20062	p.Pro379Leu	rs1449598206	missense variant	-	NC_000022.11:g.30622997C>T	TOPMed,gnomAD
TCN2	P20062	p.Pro379Ser	rs781342382	missense variant	-	NC_000022.11:g.30622996C>T	ExAC,gnomAD
TCN2	P20062	p.Tyr380Ser	rs746024609	missense variant	-	NC_000022.11:g.30623000A>C	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Leu381Ter	COSM478875	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30623003T>A	NCI-TCGA Cosmic
TCN2	P20062	p.Thr382Ile	rs1194608069	missense variant	-	NC_000022.11:g.30623006C>T	TOPMed,gnomAD
TCN2	P20062	p.Val384Met	rs144166182	missense variant	-	NC_000022.11:g.30623011G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Met385Ile	rs762822411	missense variant	-	NC_000022.11:g.30623016G>A	ExAC,gnomAD
TCN2	P20062	p.Met385Leu	rs375436976	missense variant	-	NC_000022.11:g.30623014A>T	ESP,TOPMed,gnomAD
TCN2	P20062	p.Lys387Asn	rs939944340	missense variant	-	NC_000022.11:g.30623022A>T	TOPMed
TCN2	P20062	p.Lys387Glu	rs768633265	missense variant	-	NC_000022.11:g.30623020A>G	ExAC,gnomAD
TCN2	P20062	p.Ala388Val	rs774428161	missense variant	-	NC_000022.11:g.30623024C>T	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala389Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30623026G>T	NCI-TCGA
TCN2	P20062	p.Gly390Arg	rs367605153	missense variant	-	NC_000022.11:g.30623029G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Gly390Arg	RCV000768103	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30623029G>A	ClinVar
TCN2	P20062	p.Glu393Asp	rs765993081	missense variant	-	NC_000022.11:g.30623040G>C	ExAC,gnomAD
TCN2	P20062	p.Glu393Gly	rs1362982609	missense variant	-	NC_000022.11:g.30623039A>G	gnomAD
TCN2	P20062	p.Phe394Ser	rs1315650830	missense variant	-	NC_000022.11:g.30623042T>C	gnomAD
TCN2	P20062	p.Trp395Leu	rs778112982	missense variant	-	NC_000022.11:g.30623045G>T	ExAC,gnomAD
TCN2	P20062	p.Trp395Arg	rs758755056	missense variant	-	NC_000022.11:g.30623044T>A	ExAC,gnomAD
TCN2	P20062	p.Gln396Lys	rs752003301	missense variant	-	NC_000022.11:g.30623047C>A	ExAC,gnomAD
TCN2	P20062	p.Leu397Pro	rs1286710107	missense variant	-	NC_000022.11:g.30623051T>C	gnomAD
TCN2	P20062	p.Leu398Ile	COSM285632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30623053C>A	NCI-TCGA Cosmic
TCN2	P20062	p.Arg399Ter	rs769817524	stop gained	-	NC_000022.11:g.30623056C>T	ExAC,gnomAD
TCN2	P20062	p.Arg399Pro	rs4820889	missense variant	-	NC_000022.11:g.30623057G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg399Gln	rs4820889	missense variant	-	NC_000022.11:g.30623057G>A	UniProt,dbSNP
TCN2	P20062	p.Arg399Gln	VAR_054544	missense variant	-	NC_000022.11:g.30623057G>A	UniProt
TCN2	P20062	p.Arg399Gln	rs4820889	missense variant	-	NC_000022.11:g.30623057G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg399Gly	RCV000768104	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30623056C>G	ClinVar
TCN2	P20062	p.Arg399Gln	RCV000353236	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30623057G>A	ClinVar
TCN2	P20062	p.Asp400Asn	rs527966482	missense variant	-	NC_000022.11:g.30623059G>A	1000Genomes
TCN2	P20062	p.Pro401His	rs1214437394	missense variant	-	NC_000022.11:g.30623063C>A	TOPMed
TCN2	P20062	p.Asn402Ser	rs749591278	missense variant	-	NC_000022.11:g.30623066A>G	ExAC,gnomAD
TCN2	P20062	p.Asn402Lys	COSM444872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30623067C>A	NCI-TCGA Cosmic
TCN2	P20062	p.Thr403Asn	rs1444459037	missense variant	-	NC_000022.11:g.30623069C>A	gnomAD
TCN2	P20062	p.Pro404Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30623071C>A	NCI-TCGA
TCN2	P20062	p.Leu405Val	rs774303447	missense variant	-	NC_000022.11:g.30623074C>G	ExAC,gnomAD
TCN2	P20062	p.Gln407Lys	rs761607138	missense variant	-	NC_000022.11:g.30623080C>A	ExAC,gnomAD
TCN2	P20062	p.Gly408Val	rs1398054774	missense variant	-	NC_000022.11:g.30626460G>T	TOPMed,gnomAD
TCN2	P20062	p.Ile409Thr	rs746912877	missense variant	-	NC_000022.11:g.30626463T>C	ExAC,gnomAD
TCN2	P20062	p.Ile409Val	rs371229602	missense variant	-	NC_000022.11:g.30626462A>G	ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ile409Ser	rs746912877	missense variant	-	NC_000022.11:g.30626463T>G	ExAC,gnomAD
TCN2	P20062	p.Ala410Gly	rs145807876	missense variant	-	NC_000022.11:g.30626466C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ala410Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30626466C>T	NCI-TCGA
TCN2	P20062	p.Asp411Glu	rs931753951	missense variant	-	NC_000022.11:g.30626470C>G	TOPMed,gnomAD
TCN2	P20062	p.Asp411Gly	rs776587089	missense variant	-	NC_000022.11:g.30626469A>G	ExAC,gnomAD
TCN2	P20062	p.Tyr412Cys	rs745363222	missense variant	-	NC_000022.11:g.30626472A>G	ExAC,gnomAD
TCN2	P20062	p.Tyr412Ser	rs745363222	missense variant	-	NC_000022.11:g.30626472A>C	ExAC,gnomAD
TCN2	P20062	p.TyrArg412Ter	rs770099587	stop gained	-	NC_000022.11:g.30626473_30626474del	ExAC,gnomAD
TCN2	P20062	p.Tyr412Cys	RCV000768105	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30626472A>G	ClinVar
TCN2	P20062	p.Arg413Gly	rs148963479	missense variant	-	NC_000022.11:g.30626474A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TCN2	P20062	p.Arg413Gly	RCV000635256	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30626474A>G	ClinVar
TCN2	P20062	p.Pro414Ser	rs762520765	missense variant	-	NC_000022.11:g.30626477C>T	ExAC,gnomAD
TCN2	P20062	p.Lys415Arg	rs767866096	missense variant	-	NC_000022.11:g.30626481A>G	ExAC,gnomAD
TCN2	P20062	p.Asp416Asn	rs773473997	missense variant	-	NC_000022.11:g.30626483G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ile420Thr	rs1268784872	missense variant	-	NC_000022.11:g.30626496T>C	gnomAD
TCN2	P20062	p.Glu421Val	COSM1130459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30626499A>T	NCI-TCGA Cosmic
TCN2	P20062	p.Glu421Lys	rs761223605	missense variant	-	NC_000022.11:g.30626498G>A	ExAC,TOPMed,gnomAD
TCN2	P20062	p.Ser426Gly	rs1169242188	missense variant	-	NC_000022.11:g.30626513A>G	gnomAD
TCN2	P20062	p.Ser426Asn	rs1368832999	missense variant	-	NC_000022.11:g.30626514G>A	gnomAD
TCN2	P20062	p.Trp427Leu	rs367829511	missense variant	-	NC_000022.11:g.30626517G>T	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro2Leu	rs1301646677	missense variant	-	NC_000019.10:g.44748795C>T	TOPMed
BCL3	P20749	p.Arg3Ter	rs1437943199	stop gained	-	NC_000019.10:g.44748797C>T	TOPMed
BCL3	P20749	p.Arg3Gln	rs1409945901	missense variant	-	NC_000019.10:g.44748798G>A	TOPMed,gnomAD
BCL3	P20749	p.Ala6Thr	rs1399087789	missense variant	-	NC_000019.10:g.44748806G>A	TOPMed
BCL3	P20749	p.Ala8Thr	rs1480070988	missense variant	-	NC_000019.10:g.44748812G>A	TOPMed,gnomAD
BCL3	P20749	p.Met9Ile	rs1285650559	missense variant	-	NC_000019.10:g.44748817G>T	gnomAD
BCL3	P20749	p.Glu11Gln	rs1434313647	missense variant	-	NC_000019.10:g.44748821G>C	TOPMed
BCL3	P20749	p.Val14Met	rs1338898828	missense variant	-	NC_000019.10:g.44748830G>A	gnomAD
BCL3	P20749	p.Thr18Pro	rs1393059112	missense variant	-	NC_000019.10:g.44748842A>C	TOPMed
BCL3	P20749	p.Lys21Arg	rs903985850	missense variant	-	NC_000019.10:g.44748852A>G	TOPMed,gnomAD
BCL3	P20749	p.Ala22Thr	rs1000886222	missense variant	-	NC_000019.10:g.44748854G>A	TOPMed
BCL3	P20749	p.Pro26Ser	rs1241507559	missense variant	-	NC_000019.10:g.44748866C>T	TOPMed
BCL3	P20749	p.Ala28Thr	rs1218607986	missense variant	-	NC_000019.10:g.44748872G>A	gnomAD
BCL3	P20749	p.Ala29Glu	rs1030986948	missense variant	-	NC_000019.10:g.44748876C>A	TOPMed
BCL3	P20749	p.Arg33Leu	rs1289626976	missense variant	-	NC_000019.10:g.44748888G>T	gnomAD
BCL3	P20749	p.Pro36Arg	rs969258640	missense variant	-	NC_000019.10:g.44748897C>G	TOPMed
BCL3	P20749	p.Pro36Leu	rs969258640	missense variant	-	NC_000019.10:g.44748897C>T	TOPMed
BCL3	P20749	p.Ser41Pro	rs1309356729	missense variant	-	NC_000019.10:g.44748911T>C	TOPMed,gnomAD
BCL3	P20749	p.Pro42Leu	rs1219411442	missense variant	-	NC_000019.10:g.44748915C>T	gnomAD
BCL3	P20749	p.Glu43Lys	rs760961930	missense variant	-	NC_000019.10:g.44748917G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Glu43Gln	rs760961930	missense variant	-	NC_000019.10:g.44748917G>C	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ala45Asp	rs932958438	missense variant	-	NC_000019.10:g.44748924C>A	TOPMed,gnomAD
BCL3	P20749	p.Ala45Val	rs932958438	missense variant	-	NC_000019.10:g.44748924C>T	TOPMed,gnomAD
BCL3	P20749	p.Ala45Thr	rs868370649	missense variant	-	NC_000019.10:g.44748923G>A	TOPMed,gnomAD
BCL3	P20749	p.Ala46Gly	rs1346616682	missense variant	-	NC_000019.10:g.44748927C>G	gnomAD
BCL3	P20749	p.Arg48His	rs1051354638	missense variant	-	NC_000019.10:g.44748933G>A	TOPMed
BCL3	P20749	p.Arg48Gly	rs1166137929	missense variant	-	NC_000019.10:g.44748932C>G	TOPMed
BCL3	P20749	p.Ala51Glu	rs768745302	missense variant	-	NC_000019.10:g.44748942C>A	ExAC,gnomAD
BCL3	P20749	p.Gly52Ser	rs1186523733	missense variant	-	NC_000019.10:g.44748944G>A	TOPMed
BCL3	P20749	p.Gly52Asp	rs1187065793	missense variant	-	NC_000019.10:g.44748945G>A	gnomAD
BCL3	P20749	p.Val54Ile	rs1318163130	missense variant	-	NC_000019.10:g.44748950G>A	gnomAD
BCL3	P20749	p.Val54Leu	rs1318163130	missense variant	-	NC_000019.10:g.44748950G>C	gnomAD
BCL3	P20749	p.Val55Leu	rs1204771188	missense variant	-	NC_000019.10:g.44748953G>C	TOPMed
BCL3	P20749	p.Pro56Arg	rs1426234951	missense variant	-	NC_000019.10:g.44748957C>G	TOPMed,gnomAD
BCL3	P20749	p.Pro56Ser	rs1272708693	missense variant	-	NC_000019.10:g.44748956C>T	TOPMed
BCL3	P20749	p.Pro59Thr	rs1359081851	missense variant	-	NC_000019.10:g.44748965C>A	gnomAD
BCL3	P20749	p.Arg61His	rs762620688	missense variant	-	NC_000019.10:g.44748972G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg61Leu	rs762620688	missense variant	-	NC_000019.10:g.44748972G>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Gly62Arg	rs1364616944	missense variant	-	NC_000019.10:g.44748974G>C	TOPMed,gnomAD
BCL3	P20749	p.Gly62Ser	rs1364616944	missense variant	-	NC_000019.10:g.44748974G>A	TOPMed,gnomAD
BCL3	P20749	p.Gly63Cys	rs1226692703	missense variant	-	NC_000019.10:g.44748977G>T	gnomAD
BCL3	P20749	p.Gly63Asp	rs1312169158	missense variant	-	NC_000019.10:g.44748978G>A	gnomAD
BCL3	P20749	p.Asp65Asn	rs1310134646	missense variant	-	NC_000019.10:g.44748983G>A	TOPMed
BCL3	P20749	p.Pro67Leu	rs766467039	missense variant	-	NC_000019.10:g.44748990C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro67Ser	rs1360246384	missense variant	-	NC_000019.10:g.44748989C>T	gnomAD
BCL3	P20749	p.Ala68Val	rs759505305	missense variant	-	NC_000019.10:g.44748993C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro70His	rs1243793166	missense variant	-	NC_000019.10:g.44748999C>A	gnomAD
BCL3	P20749	p.Gly71Trp	rs1181206158	missense variant	-	NC_000019.10:g.44749001G>T	TOPMed,gnomAD
BCL3	P20749	p.Gly71Ala	rs1243263231	missense variant	-	NC_000019.10:g.44749002G>C	gnomAD
BCL3	P20749	p.Gly71Arg	rs1181206158	missense variant	-	NC_000019.10:g.44749001G>C	TOPMed,gnomAD
BCL3	P20749	p.Pro72Ser	rs1445898429	missense variant	-	NC_000019.10:g.44749004C>T	TOPMed,gnomAD
BCL3	P20749	p.Pro72Ala	rs1445898429	missense variant	-	NC_000019.10:g.44749004C>G	TOPMed,gnomAD
BCL3	P20749	p.Pro73Thr	rs1156481301	missense variant	-	NC_000019.10:g.44749007C>A	gnomAD
BCL3	P20749	p.His74Gln	rs755856195	missense variant	-	NC_000019.10:g.44749012C>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.His74Asp	rs1400492942	missense variant	-	NC_000019.10:g.44749010C>G	gnomAD
BCL3	P20749	p.His74Asn	rs1400492942	missense variant	-	NC_000019.10:g.44749010C>A	gnomAD
BCL3	P20749	p.Gly75Ser	rs763649312	missense variant	-	NC_000019.10:g.44749013G>A	ExAC,gnomAD
BCL3	P20749	p.Ala77Gly	rs1379850243	missense variant	-	NC_000019.10:g.44749020C>G	TOPMed,gnomAD
BCL3	P20749	p.Ala77Val	rs1379850243	missense variant	-	NC_000019.10:g.44749020C>T	TOPMed,gnomAD
BCL3	P20749	p.Arg78Trp	rs757544122	missense variant	-	NC_000019.10:g.44749022C>T	ExAC,gnomAD
BCL3	P20749	p.Pro79Leu	rs779203246	missense variant	-	NC_000019.10:g.44749026C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ala81Thr	rs746408408	missense variant	-	NC_000019.10:g.44749031G>A	ExAC,gnomAD
BCL3	P20749	p.Leu82Phe	rs373183384	missense variant	-	NC_000019.10:g.44749034C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Leu82Val	rs373183384	missense variant	-	NC_000019.10:g.44749034C>G	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro85Ser	rs1013969147	missense variant	-	NC_000019.10:g.44749043C>T	TOPMed
BCL3	P20749	p.Gly86Arg	rs1277571604	missense variant	-	NC_000019.10:g.44749046G>A	TOPMed
BCL3	P20749	p.Gly86Glu	rs201526615	missense variant	-	NC_000019.10:g.44751227G>A	1000Genomes
BCL3	P20749	p.Ala87Gly	rs765593954	missense variant	-	NC_000019.10:g.44751230C>G	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro90Ala	rs1206236809	missense variant	-	NC_000019.10:g.44751238C>G	TOPMed,gnomAD
BCL3	P20749	p.Pro90Ser	rs1206236809	missense variant	-	NC_000019.10:g.44751238C>T	TOPMed,gnomAD
BCL3	P20749	p.Tyr92Cys	COSM4079198	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44751245A>G	NCI-TCGA Cosmic
BCL3	P20749	p.Thr94Ala	rs758969241	missense variant	-	NC_000019.10:g.44751250A>G	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg95Trp	rs780503593	missense variant	-	NC_000019.10:g.44751253C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg95Gln	rs899315490	missense variant	-	NC_000019.10:g.44751254G>A	gnomAD
BCL3	P20749	p.Arg95Leu	rs899315490	missense variant	-	NC_000019.10:g.44751254G>T	gnomAD
BCL3	P20749	p.Ala96Thr	rs747158597	missense variant	-	NC_000019.10:g.44751256G>A	ExAC,TOPMed
BCL3	P20749	p.Ala96Pro	rs747158597	missense variant	-	NC_000019.10:g.44751256G>C	ExAC,TOPMed
BCL3	P20749	p.Pro100Leu	rs755034202	missense variant	-	NC_000019.10:g.44751269C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro100Ser	rs1296676287	missense variant	-	NC_000019.10:g.44751268C>T	TOPMed
BCL3	P20749	p.Leu103Pro	rs1410557354	missense variant	-	NC_000019.10:g.44751278T>C	gnomAD
BCL3	P20749	p.Val104Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44751281T>C	NCI-TCGA
BCL3	P20749	p.Asn105Ser	rs1175941368	missense variant	-	NC_000019.10:g.44751284A>G	TOPMed
BCL3	P20749	p.Asn105Lys	rs373600361	missense variant	-	NC_000019.10:g.44751285C>A	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Leu106Val	rs774348285	missense variant	-	NC_000019.10:g.44751286C>G	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Leu106Met	rs774348285	missense variant	-	NC_000019.10:g.44751286C>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro107Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44751289C>T	NCI-TCGA
BCL3	P20749	p.Thr108Ala	rs1404122388	missense variant	-	NC_000019.10:g.44751292A>G	TOPMed,gnomAD
BCL3	P20749	p.Tyr111His	rs775268394	missense variant	-	NC_000019.10:g.44751301T>C	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro112Thr	rs371024213	missense variant	-	NC_000019.10:g.44751304C>A	ESP,gnomAD
BCL3	P20749	p.Pro112His	rs760615560	missense variant	-	NC_000019.10:g.44751305C>A	ExAC,gnomAD
BCL3	P20749	p.Pro112Ala	rs371024213	missense variant	-	NC_000019.10:g.44751304C>G	ESP,gnomAD
BCL3	P20749	p.Met113Leu	rs768087111	missense variant	-	NC_000019.10:g.44751307A>C	ExAC,gnomAD
BCL3	P20749	p.Met113Ile	rs764862709	missense variant	-	NC_000019.10:g.44751309G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Met113Val	rs768087111	missense variant	-	NC_000019.10:g.44751307A>G	ExAC,gnomAD
BCL3	P20749	p.Met113Arg	rs552485571	missense variant	-	NC_000019.10:g.44751308T>G	1000Genomes,ExAC,gnomAD
BCL3	P20749	p.Met114Val	rs1222768708	missense variant	-	NC_000019.10:g.44751310A>G	gnomAD
BCL3	P20749	p.Pro116Ser	COSM3535741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44751316C>T	NCI-TCGA Cosmic
BCL3	P20749	p.Met117Thr	rs763277716	missense variant	-	NC_000019.10:g.44751320T>C	ExAC,gnomAD
BCL3	P20749	p.Met117Val	rs750824997	missense variant	-	NC_000019.10:g.44751319A>G	ExAC,gnomAD
BCL3	P20749	p.Met117Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44751321G>A	NCI-TCGA
BCL3	P20749	p.Glu118Gly	rs1207907366	missense variant	-	NC_000019.10:g.44751323A>G	TOPMed
BCL3	P20749	p.His119Asp	rs901965741	missense variant	-	NC_000019.10:g.44751325C>G	TOPMed
BCL3	P20749	p.His119Gln	rs766714413	missense variant	-	NC_000019.10:g.44751327C>A	ExAC,gnomAD
BCL3	P20749	p.His119Gln	rs766714413	missense variant	-	NC_000019.10:g.44751327C>G	ExAC,gnomAD
BCL3	P20749	p.Leu121Ile	rs752037614	missense variant	-	NC_000019.10:g.44751331C>A	ExAC,gnomAD
BCL3	P20749	p.Leu121Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44751331C>T	NCI-TCGA
BCL3	P20749	p.Ala123Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44751337G>A	NCI-TCGA
BCL3	P20749	p.Asp124His	rs1169666739	missense variant	-	NC_000019.10:g.44751340G>C	gnomAD
BCL3	P20749	p.Asp124Glu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44751342C>A	NCI-TCGA
BCL3	P20749	p.Ala126Thr	rs140257795	missense variant	-	NC_000019.10:g.44751346G>A	ESP,ExAC,gnomAD
BCL3	P20749	p.Met127Val	rs1303949278	missense variant	-	NC_000019.10:g.44751349A>G	gnomAD
BCL3	P20749	p.Thr129Asn	rs756473223	missense variant	-	NC_000019.10:g.44751356C>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg130His	rs745707405	missense variant	-	NC_000019.10:g.44751359G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg130Cys	rs778110510	missense variant	-	NC_000019.10:g.44751358C>T	ExAC,gnomAD
BCL3	P20749	p.Gly135Arg	rs768583508	missense variant	-	NC_000019.10:g.44751373G>A	ExAC,gnomAD
BCL3	P20749	p.Thr137Arg	rs776069320	missense variant	-	NC_000019.10:g.44751380C>G	ExAC,gnomAD
BCL3	P20749	p.Pro138Ala	rs1438140757	missense variant	-	NC_000019.10:g.44756233C>G	gnomAD
BCL3	P20749	p.His140Tyr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44756239C>T	NCI-TCGA
BCL3	P20749	p.Ala142Ser	rs774646430	missense variant	-	NC_000019.10:g.44756245G>T	ExAC,gnomAD
BCL3	P20749	p.Gln145Leu	rs759914330	missense variant	-	NC_000019.10:g.44756255A>T	ExAC,gnomAD
BCL3	P20749	p.Asn147Ile	rs1405181797	missense variant	-	NC_000019.10:g.44756261A>T	gnomAD
BCL3	P20749	p.Val151Leu	rs1451965799	missense variant	-	NC_000019.10:g.44756272G>C	TOPMed
BCL3	P20749	p.Arg153Gln	rs776164235	missense variant	-	NC_000019.10:g.44756279G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg153Trp	rs767960519	missense variant	-	NC_000019.10:g.44756278C>T	ExAC,gnomAD
BCL3	P20749	p.Val155Phe	COSM439760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44756284G>T	NCI-TCGA Cosmic
BCL3	P20749	p.Val155Gly	rs761227482	missense variant	-	NC_000019.10:g.44756285T>G	ExAC,gnomAD
BCL3	P20749	p.Phe158Ser	rs200793360	missense variant	-	NC_000019.10:g.44756294T>C	TOPMed,gnomAD
BCL3	P20749	p.Gln160Ter	COSM998048	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44756299C>T	NCI-TCGA Cosmic
BCL3	P20749	p.Gln160His	rs545670757	missense variant	-	NC_000019.10:g.44756301G>C	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Gln160Pro	rs764276676	missense variant	-	NC_000019.10:g.44756300A>C	ExAC
BCL3	P20749	p.Gly161Arg	rs765465163	missense variant	-	NC_000019.10:g.44756302G>C	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Gly161Trp	rs765465163	missense variant	-	NC_000019.10:g.44756302G>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Gly162Ser	rs564600093	missense variant	-	NC_000019.10:g.44756305G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg163Trp	rs370832049	missense variant	-	NC_000019.10:g.44756308C>T	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg163Gly	rs370832049	missense variant	-	NC_000019.10:g.44756308C>G	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg163Gln	rs200277371	missense variant	-	NC_000019.10:g.44756309G>A	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Glu164Lys	rs748826061	missense variant	-	NC_000019.10:g.44756311G>A	ExAC,gnomAD
BCL3	P20749	p.Leu165Phe	rs770529957	missense variant	-	NC_000019.10:g.44756314C>T	ExAC,gnomAD
BCL3	P20749	p.Asp166Asn	rs774033551	missense variant	-	NC_000019.10:g.44756317G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Asn170Ser	rs772518779	missense variant	-	NC_000019.10:g.44756330A>G	ExAC,gnomAD
BCL3	P20749	p.Asn170Lys	rs1460997985	missense variant	-	NC_000019.10:g.44756331C>A	gnomAD
BCL3	P20749	p.Asn170Asp	rs776392789	missense variant	-	NC_000019.10:g.44756329A>G	TOPMed,gnomAD
BCL3	P20749	p.Asn170His	rs776392789	missense variant	-	NC_000019.10:g.44756329A>C	TOPMed,gnomAD
BCL3	P20749	p.Arg172Gln	rs1398101495	missense variant	-	NC_000019.10:g.44756336G>A	TOPMed,gnomAD
BCL3	P20749	p.Arg172Trp	rs1298420573	missense variant	-	NC_000019.10:g.44756335C>T	TOPMed,gnomAD
BCL3	P20749	p.Pro175Leu	COSM4928003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757021C>T	NCI-TCGA Cosmic
BCL3	P20749	p.Leu176Phe	rs771795873	missense variant	-	NC_000019.10:g.44757023C>T	ExAC,gnomAD
BCL3	P20749	p.Ala179Thr	rs1224347620	missense variant	-	NC_000019.10:g.44757032G>A	gnomAD
BCL3	P20749	p.Thr183Ile	rs1485534724	missense variant	-	NC_000019.10:g.44757045C>T	gnomAD
BCL3	P20749	p.Pro185Leu	rs950679779	missense variant	-	NC_000019.10:g.44757051C>T	TOPMed,gnomAD
BCL3	P20749	p.Val188Ile	rs1263286784	missense variant	-	NC_000019.10:g.44757059G>A	gnomAD
BCL3	P20749	p.Val188Leu	rs1263286784	missense variant	-	NC_000019.10:g.44757059G>C	gnomAD
BCL3	P20749	p.Arg189Gln	rs1162575404	missense variant	-	NC_000019.10:g.44757063G>A	gnomAD
BCL3	P20749	p.Val192Met	rs1385400021	missense variant	-	NC_000019.10:g.44757071G>A	gnomAD
BCL3	P20749	p.Thr193Pro	rs1425703219	missense variant	-	NC_000019.10:g.44757074A>C	gnomAD
BCL3	P20749	p.Thr193Ile	rs1165928556	missense variant	-	NC_000019.10:g.44757075C>T	gnomAD
BCL3	P20749	p.Ser197Arg	rs1453723763	missense variant	-	NC_000019.10:g.44757088C>G	gnomAD
BCL3	P20749	p.Ser197Gly	rs1343801812	missense variant	-	NC_000019.10:g.44757086A>G	gnomAD
BCL3	P20749	p.Met199Leu	rs1365748721	missense variant	-	NC_000019.10:g.44757092A>C	TOPMed
BCL3	P20749	p.Met199Thr	rs35980686	missense variant	-	NC_000019.10:g.44757093T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg203His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44757105G>A	NCI-TCGA
BCL3	P20749	p.Gly205Ser	COSM1325199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757110G>A	NCI-TCGA Cosmic
BCL3	P20749	p.Gln206Glu	rs1314633369	missense variant	-	NC_000019.10:g.44757113C>G	gnomAD
BCL3	P20749	p.Thr207Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44757117C>T	NCI-TCGA
BCL3	P20749	p.Ala209Thr	rs775921841	missense variant	-	NC_000019.10:g.44757122G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ala212Val	COSM3692860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757132C>T	NCI-TCGA Cosmic
BCL3	P20749	p.Ala212Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44757131G>A	NCI-TCGA
BCL3	P20749	p.Glu214Gln	rs138512809	missense variant	-	NC_000019.10:g.44757137G>C	ESP,TOPMed,gnomAD
BCL3	P20749	p.Glu214Lys	rs138512809	missense variant	-	NC_000019.10:g.44757137G>A	ESP,TOPMed,gnomAD
BCL3	P20749	p.Arg216His	COSM1394495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757144G>A	NCI-TCGA Cosmic
BCL3	P20749	p.Arg216Cys	rs1481704544	missense variant	-	NC_000019.10:g.44757143C>T	gnomAD
BCL3	P20749	p.Ser217Arg	rs763413198	missense variant	-	NC_000019.10:g.44757148C>A	ExAC,gnomAD
BCL3	P20749	p.Ser217Arg	rs763413198	missense variant	-	NC_000019.10:g.44757148C>G	ExAC,gnomAD
BCL3	P20749	p.Pro218Leu	rs957362834	missense variant	-	NC_000019.10:g.44757150C>T	TOPMed,gnomAD
BCL3	P20749	p.Pro218Arg	rs957362834	missense variant	-	NC_000019.10:g.44757150C>G	TOPMed,gnomAD
BCL3	P20749	p.Pro218Gln	rs957362834	missense variant	-	NC_000019.10:g.44757150C>A	TOPMed,gnomAD
BCL3	P20749	p.Cys220Ser	rs760441291	missense variant	-	NC_000019.10:g.44757155T>A	ExAC,gnomAD
BCL3	P20749	p.Leu221Met	rs1446154295	missense variant	-	NC_000019.10:g.44757158C>A	gnomAD
BCL3	P20749	p.Arg222Gln	rs763828094	missense variant	-	NC_000019.10:g.44757162G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ser227Asn	rs546909663	missense variant	-	NC_000019.10:g.44757177G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ala228Val	rs1468307705	missense variant	-	NC_000019.10:g.44757180C>T	gnomAD
BCL3	P20749	p.Ala228Thr	rs949538010	missense variant	-	NC_000019.10:g.44757179G>A	gnomAD
BCL3	P20749	p.Ala229Pro	rs778502369	missense variant	-	NC_000019.10:g.44757182G>C	ExAC,gnomAD
BCL3	P20749	p.Ala229Val	rs749890130	missense variant	-	NC_000019.10:g.44757183C>T	ExAC,gnomAD
BCL3	P20749	p.Gly231Ser	rs779825081	missense variant	-	NC_000019.10:g.44757188G>A	ExAC,gnomAD
BCL3	P20749	p.Thr232Met	rs1372393303	missense variant	-	NC_000019.10:g.44757192C>T	gnomAD
BCL3	P20749	p.Leu233Phe	rs781343322	missense variant	-	NC_000019.10:g.44757196G>C	ExAC,gnomAD
BCL3	P20749	p.Asp234Glu	rs1263266983	missense variant	-	NC_000019.10:g.44757199C>G	gnomAD
BCL3	P20749	p.Asp234Val	rs748699383	missense variant	-	NC_000019.10:g.44757198A>T	ExAC,gnomAD
BCL3	P20749	p.Ala237Gly	rs1281208864	missense variant	-	NC_000019.10:g.44757207C>G	TOPMed
BCL3	P20749	p.Arg238Ser	rs868852688	missense variant	-	NC_000019.10:g.44757209C>A	TOPMed,gnomAD
BCL3	P20749	p.Arg238Leu	rs1202031916	missense variant	-	NC_000019.10:g.44757210G>T	gnomAD
BCL3	P20749	p.Arg238His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44757210G>A	NCI-TCGA
BCL3	P20749	p.Thr244Ile	rs1404065951	missense variant	-	NC_000019.10:g.44757333C>T	gnomAD
BCL3	P20749	p.His247Tyr	rs1332692601	missense variant	-	NC_000019.10:g.44757341C>T	gnomAD
BCL3	P20749	p.Val248Met	rs1428531523	missense variant	-	NC_000019.10:g.44757344G>A	gnomAD
BCL3	P20749	p.Asn251Tyr	rs1255986385	missense variant	-	NC_000019.10:g.44757353A>T	TOPMed
BCL3	P20749	p.Asn251Ser	rs1269144294	missense variant	-	NC_000019.10:g.44757354A>G	gnomAD
BCL3	P20749	p.Thr252Ser	rs749747006	missense variant	-	NC_000019.10:g.44757356A>T	ExAC,gnomAD
BCL3	P20749	p.Thr252Ile	rs955029984	missense variant	-	NC_000019.10:g.44757357C>T	gnomAD
BCL3	P20749	p.Glu253Lys	rs1289092924	missense variant	-	NC_000019.10:g.44757359G>A	gnomAD
BCL3	P20749	p.Glu253Gly	rs1234846963	missense variant	-	NC_000019.10:g.44757360A>G	TOPMed
BCL3	P20749	p.Glu253Asp	rs771030162	missense variant	-	NC_000019.10:g.44757361G>C	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Cys254Phe	rs1007989488	missense variant	-	NC_000019.10:g.44757363G>T	gnomAD
BCL3	P20749	p.Glu256Asp	rs1049115496	missense variant	-	NC_000019.10:g.44757370A>C	TOPMed
BCL3	P20749	p.Thr257Ile	rs746104910	missense variant	-	NC_000019.10:g.44757372C>T	ExAC,gnomAD
BCL3	P20749	p.Thr257Ser	rs746104910	missense variant	-	NC_000019.10:g.44757372C>G	ExAC,gnomAD
BCL3	P20749	p.Thr257Ala	rs774349670	missense variant	-	NC_000019.10:g.44757371A>G	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Val258Met	rs369753256	missense variant	-	NC_000019.10:g.44757374G>A	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Val258Met	RCV000238823	missense variant	-	NC_000019.10:g.44757374G>A	ClinVar
BCL3	P20749	p.Leu260Phe	rs1004862507	missense variant	-	NC_000019.10:g.44757380C>T	TOPMed
BCL3	P20749	p.Leu262Val	rs765271744	missense variant	-	NC_000019.10:g.44757386C>G	ExAC,gnomAD
BCL3	P20749	p.Glu263Asp	rs773310158	missense variant	-	NC_000019.10:g.44757391G>T	ExAC,gnomAD
BCL3	P20749	p.Glu263Gln	COSM307661	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757389G>C	NCI-TCGA Cosmic
BCL3	P20749	p.Arg264Cys	COSM1184592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44757392C>T	NCI-TCGA Cosmic
BCL3	P20749	p.Arg264Gly	rs1164033963	missense variant	-	NC_000019.10:g.44757392C>G	gnomAD
BCL3	P20749	p.Gly265Arg	rs1392607073	missense variant	-	NC_000019.10:g.44757395G>C	gnomAD
BCL3	P20749	p.Ala266Gly	rs1329745068	missense variant	-	NC_000019.10:g.44757399C>G	TOPMed
BCL3	P20749	p.Ile268Met	rs146200502	missense variant	-	NC_000019.10:g.44757406C>G	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ile268Val	rs765996938	missense variant	-	NC_000019.10:g.44757404A>G	ExAC,gnomAD
BCL3	P20749	p.Ile268Phe	rs765996938	missense variant	-	NC_000019.10:g.44757404A>T	ExAC,gnomAD
BCL3	P20749	p.Asp269Glu	rs961218620	missense variant	-	NC_000019.10:g.44757409C>G	TOPMed,gnomAD
BCL3	P20749	p.Asp269Asn	rs1436564555	missense variant	-	NC_000019.10:g.44757407G>A	gnomAD
BCL3	P20749	p.Ala270Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44757410G>A	NCI-TCGA
BCL3	P20749	p.Ile273Ser	rs766413561	missense variant	-	NC_000019.10:g.44757650T>G	ExAC,gnomAD
BCL3	P20749	p.Gly276Cys	rs1174159136	missense variant	-	NC_000019.10:g.44757658G>T	gnomAD
BCL3	P20749	p.Pro279Thr	rs1304229547	missense variant	-	NC_000019.10:g.44757667C>A	gnomAD
BCL3	P20749	p.His282Tyr	rs1393796215	missense variant	-	NC_000019.10:g.44757676C>T	gnomAD
BCL3	P20749	p.Asn286Asp	rs1328677316	missense variant	-	NC_000019.10:g.44757688A>G	gnomAD
BCL3	P20749	p.Asn287His	rs1351453745	missense variant	-	NC_000019.10:g.44757691A>C	gnomAD
BCL3	P20749	p.Ser290Asn	rs767004697	missense variant	-	NC_000019.10:g.44757701G>A	ExAC,gnomAD
BCL3	P20749	p.Val292Met	rs752323926	missense variant	-	NC_000019.10:g.44757706G>A	ExAC,gnomAD
BCL3	P20749	p.Gln297His	rs1337771485	missense variant	-	NC_000019.10:g.44757723G>T	gnomAD
BCL3	P20749	p.Ser308Cys	rs571056210	missense variant	-	NC_000019.10:g.44758277C>G	1000Genomes,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ser308Thr	rs780052702	missense variant	-	NC_000019.10:g.44758276T>A	ExAC,gnomAD
BCL3	P20749	p.Ser308Tyr	rs571056210	missense variant	-	NC_000019.10:g.44758277C>A	1000Genomes,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ala312Gly	rs755193601	missense variant	-	NC_000019.10:g.44758289C>G	ExAC,gnomAD
BCL3	P20749	p.Arg319His	rs748330939	missense variant	-	NC_000019.10:g.44758310G>A	ExAC,gnomAD
BCL3	P20749	p.Gly320Arg	rs199807623	missense variant	-	NC_000019.10:g.44758312G>A	-
BCL3	P20749	p.Leu322Val	rs770880267	missense variant	-	NC_000019.10:g.44758318C>G	ExAC,gnomAD
BCL3	P20749	p.Leu324Pro	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44758325T>C	NCI-TCGA
BCL3	P20749	p.Thr327Met	rs1485261413	missense variant	-	NC_000019.10:g.44758334C>T	gnomAD
BCL3	P20749	p.Ser335Gly	rs1249342971	missense variant	-	NC_000019.10:g.44758357A>G	gnomAD
BCL3	P20749	p.Cys340Tyr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44758373G>A	NCI-TCGA
BCL3	P20749	p.Asn342Ser	rs1331300598	missense variant	-	NC_000019.10:g.44758379A>G	TOPMed
BCL3	P20749	p.Asp343His	rs1361993906	missense variant	-	NC_000019.10:g.44758381G>C	gnomAD
BCL3	P20749	p.Leu346Phe	rs1466434399	missense variant	-	NC_000019.10:g.44758390C>T	TOPMed
BCL3	P20749	p.Met347Thr	rs1169219711	missense variant	-	NC_000019.10:g.44758394T>C	TOPMed
BCL3	P20749	p.Ala349Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44758400C>T	NCI-TCGA
BCL3	P20749	p.Arg350His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44758403G>A	NCI-TCGA
BCL3	P20749	p.Arg352His	rs143644908	missense variant	-	NC_000019.10:g.44758409G>A	1000Genomes,ExAC,gnomAD
BCL3	P20749	p.Arg352Leu	rs143644908	missense variant	-	NC_000019.10:g.44758409G>T	1000Genomes,ExAC,gnomAD
BCL3	P20749	p.Arg353Trp	rs1424726758	missense variant	-	NC_000019.10:g.44758411A>T	gnomAD
BCL3	P20749	p.Val354Ile	rs1296433773	missense variant	-	NC_000019.10:g.44758724G>A	gnomAD
BCL3	P20749	p.Ile355Met	rs912065522	missense variant	-	NC_000019.10:g.44758729C>G	gnomAD
BCL3	P20749	p.Asp356Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44758730G>A	NCI-TCGA
BCL3	P20749	p.Ile357Val	rs763353074	missense variant	-	NC_000019.10:g.44758733A>G	ExAC,gnomAD
BCL3	P20749	p.Ile357Leu	rs763353074	missense variant	-	NC_000019.10:g.44758733A>C	ExAC,gnomAD
BCL3	P20749	p.Ile357Met	COSM4827207	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44758735C>G	NCI-TCGA Cosmic
BCL3	P20749	p.Arg359Lys	rs1300327777	missense variant	-	NC_000019.10:g.44758740G>A	gnomAD
BCL3	P20749	p.Gly360Glu	rs766601885	missense variant	-	NC_000019.10:g.44758743G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ala362Val	rs1209802744	missense variant	-	NC_000019.10:g.44758749C>T	gnomAD
BCL3	P20749	p.Thr363Ile	rs774952569	missense variant	-	NC_000019.10:g.44758752C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Thr363Ser	rs774952569	missense variant	-	NC_000019.10:g.44758752C>G	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ala366Val	rs1247489122	missense variant	-	NC_000019.10:g.44758761C>T	gnomAD
BCL3	P20749	p.Gln370Arg	rs374166731	missense variant	-	NC_000019.10:g.44758773A>G	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro371Leu	rs542865146	missense variant	-	NC_000019.10:g.44758776C>T	1000Genomes,ExAC,gnomAD
BCL3	P20749	p.Asp372Gly	rs758237888	missense variant	-	NC_000019.10:g.44758779A>G	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro373Arg	rs779676912	missense variant	-	NC_000019.10:g.44758782C>G	ExAC,gnomAD
BCL3	P20749	p.Pro373Leu	COSM3535744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44758782C>T	NCI-TCGA Cosmic
BCL3	P20749	p.Pro373His	rs779676912	missense variant	-	NC_000019.10:g.44758782C>A	ExAC,gnomAD
BCL3	P20749	p.Pro373Ala	rs1300981476	missense variant	-	NC_000019.10:g.44758781C>G	TOPMed
BCL3	P20749	p.Arg377Trp	rs1385163490	missense variant	-	NC_000019.10:g.44758793C>T	TOPMed,gnomAD
BCL3	P20749	p.Arg377Gln	rs920821074	missense variant	-	NC_000019.10:g.44758794G>A	gnomAD
BCL3	P20749	p.Ser378Cys	rs1396811848	missense variant	-	NC_000019.10:g.44758796A>T	gnomAD
BCL3	P20749	p.Ser378Ile	rs760792917	missense variant	-	NC_000019.10:g.44758797G>T	TOPMed,gnomAD
BCL3	P20749	p.Ala379Thr	rs780724242	missense variant	-	NC_000019.10:g.44758799G>A	ExAC,gnomAD
BCL3	P20749	p.Asn380LysPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.44758803_44758804insGT	NCI-TCGA
BCL3	P20749	p.Thr381Asn	rs747655476	missense variant	-	NC_000019.10:g.44758806C>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ser382Thr	rs769496556	missense variant	-	NC_000019.10:g.44758808T>A	ExAC,gnomAD
BCL3	P20749	p.Pro383Arg	rs772932566	missense variant	-	NC_000019.10:g.44758812C>G	ExAC,gnomAD
BCL3	P20749	p.Pro383His	rs772932566	missense variant	-	NC_000019.10:g.44758812C>A	ExAC,gnomAD
BCL3	P20749	p.Pro383Leu	rs772932566	missense variant	-	NC_000019.10:g.44758812C>T	ExAC,gnomAD
BCL3	P20749	p.Pro383Ser	rs1006439890	missense variant	-	NC_000019.10:g.44758811C>T	TOPMed
BCL3	P20749	p.Glu384Lys	rs774530057	missense variant	-	NC_000019.10:g.44758814G>A	ExAC,gnomAD
BCL3	P20749	p.Glu384Asp	rs772675314	missense variant	-	NC_000019.10:g.44758816G>C	ExAC,TOPMed
BCL3	P20749	p.Glu384Gly	rs760168458	missense variant	-	NC_000019.10:g.44758815A>G	ExAC,gnomAD
BCL3	P20749	p.Glu384Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.44758814G>T	NCI-TCGA
BCL3	P20749	p.Arg388His	rs775777776	missense variant	-	NC_000019.10:g.44758827G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg388Gly	rs1230114214	missense variant	-	NC_000019.10:g.44758826C>G	TOPMed,gnomAD
BCL3	P20749	p.Arg388Cys	rs1230114214	missense variant	-	NC_000019.10:g.44758826C>T	TOPMed,gnomAD
BCL3	P20749	p.Ser390Gly	rs1468572284	missense variant	-	NC_000019.10:g.44758832A>G	gnomAD
BCL3	P20749	p.Ser390Asn	rs141697775	missense variant	-	NC_000019.10:g.44758833G>A	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Asn392Lys	rs201646511	missense variant	-	NC_000019.10:g.44758840T>A	1000Genomes,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Asn392Ser	rs1412107460	missense variant	-	NC_000019.10:g.44758839A>G	TOPMed,gnomAD
BCL3	P20749	p.Gly393Arg	rs754092281	missense variant	-	NC_000019.10:g.44758841G>C	ExAC,gnomAD
BCL3	P20749	p.Gly393Ser	rs754092281	missense variant	-	NC_000019.10:g.44758841G>A	ExAC,gnomAD
BCL3	P20749	p.Ser396Phe	COSM6151518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44759437C>T	NCI-TCGA Cosmic
BCL3	P20749	p.Ala397Val	rs755956723	missense variant	-	NC_000019.10:g.44759440C>T	ExAC,gnomAD
BCL3	P20749	p.Ala397Thr	rs114036675	missense variant	-	NC_000019.10:g.44759439G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro399Gln	rs777392055	missense variant	-	NC_000019.10:g.44759446C>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro399Leu	rs777392055	missense variant	-	NC_000019.10:g.44759446C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ser402Leu	rs757000140	missense variant	-	NC_000019.10:g.44759455C>T	ExAC
BCL3	P20749	p.Gln405Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44759463C>A	NCI-TCGA
BCL3	P20749	p.Gln405ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.44759463_44759464CA>-	NCI-TCGA
BCL3	P20749	p.Ser406Phe	rs778693221	missense variant	-	NC_000019.10:g.44759467C>T	ExAC,gnomAD
BCL3	P20749	p.Pro407Ser	rs745458470	missense variant	-	NC_000019.10:g.44759469C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro407Thr	rs745458470	missense variant	-	NC_000019.10:g.44759469C>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro408Leu	rs780522471	missense variant	-	NC_000019.10:g.44759473C>T	ExAC,gnomAD
BCL3	P20749	p.Arg409GlyPheSerTerUnkUnk	COSM3103343	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44759469C>-	NCI-TCGA Cosmic
BCL3	P20749	p.Arg409Thr	rs1168418606	missense variant	-	NC_000019.10:g.44759476G>C	gnomAD
BCL3	P20749	p.Pro412LeuPheSerTerUnkUnk	COSM4613936	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44759480C>-	NCI-TCGA Cosmic
BCL3	P20749	p.Pro412Arg	rs1312223908	missense variant	-	NC_000019.10:g.44759485C>G	gnomAD
BCL3	P20749	p.Gly413Arg	rs769017139	missense variant	-	NC_000019.10:g.44759487G>C	ExAC,gnomAD
BCL3	P20749	p.Pro415Leu	rs776840699	missense variant	-	NC_000019.10:g.44759494C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Met416Thr	rs150051050	missense variant	-	NC_000019.10:g.44759497T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ala417Val	rs1303486388	missense variant	-	NC_000019.10:g.44759500C>T	gnomAD
BCL3	P20749	p.Ala417Pro	rs1196674283	missense variant	-	NC_000019.10:g.44759499G>C	TOPMed
BCL3	P20749	p.Pro418Leu	rs769857576	missense variant	-	NC_000019.10:g.44759503C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro418His	rs769857576	missense variant	-	NC_000019.10:g.44759503C>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro418Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44759502C>G	NCI-TCGA
BCL3	P20749	p.Phe421Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44759513C>G	NCI-TCGA
BCL3	P20749	p.Phe421Leu	rs938581877	missense variant	-	NC_000019.10:g.44759511T>C	TOPMed
BCL3	P20749	p.Ser427Phe	rs1264715358	missense variant	-	NC_000019.10:g.44759530C>T	gnomAD
BCL3	P20749	p.Pro429Ser	rs147326502	missense variant	-	NC_000019.10:g.44759535C>T	ESP,TOPMed
BCL3	P20749	p.Ala430Thr	rs140683183	missense variant	-	NC_000019.10:g.44759538G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Phe434Leu	rs756729242	missense variant	-	NC_000019.10:g.44759550T>C	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Phe434Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44759551T>C	NCI-TCGA
BCL3	P20749	p.Phe434CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.44759549_44759550CT>-	NCI-TCGA
BCL3	P20749	p.Gly436Arg	rs764771198	missense variant	-	NC_000019.10:g.44759556G>A	ExAC,gnomAD
BCL3	P20749	p.Val437Phe	rs750127828	missense variant	-	NC_000019.10:g.44759559G>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Val437Ile	rs750127828	missense variant	-	NC_000019.10:g.44759559G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Val437GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.44759555_44759556insG	NCI-TCGA
BCL3	P20749	p.Arg439Ter	rs1451648586	stop gained	-	NC_000019.10:g.44759565C>T	gnomAD
BCL3	P20749	p.Arg439Gln	rs373245726	missense variant	-	NC_000019.10:g.44759566G>A	ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Gly440Ser	rs780610389	missense variant	-	NC_000019.10:g.44759568G>A	ExAC,gnomAD
BCL3	P20749	p.Pro441Ser	rs1458864299	missense variant	-	NC_000019.10:g.44759571C>T	gnomAD
BCL3	P20749	p.Gly442Asp	rs1295404922	missense variant	-	NC_000019.10:g.44759575G>A	gnomAD
BCL3	P20749	p.Arg443Gln	rs775770878	missense variant	-	NC_000019.10:g.44759578G>A	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg443Trp	rs755569977	missense variant	-	NC_000019.10:g.44759577C>T	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Arg443Gly	rs755569977	missense variant	-	NC_000019.10:g.44759577C>G	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Pro444Leu	rs377071242	missense variant	-	NC_000019.10:g.44759581C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCL3	P20749	p.Val445Leu	rs749562814	missense variant	-	NC_000019.10:g.44759583G>T	ExAC,gnomAD
BCL3	P20749	p.Val445Met	rs749562814	missense variant	-	NC_000019.10:g.44759583G>A	ExAC,gnomAD
BCL3	P20749	p.Pro446Ala	rs775422952	missense variant	-	NC_000019.10:g.44759586C>G	ExAC,gnomAD
BCL3	P20749	p.Pro446Leu	rs1265748935	missense variant	-	NC_000019.10:g.44759587C>T	gnomAD
BCL3	P20749	p.Pro447His	rs369712125	missense variant	-	NC_000019.10:g.44759590C>A	ESP,ExAC,gnomAD
BCL3	P20749	p.Pro447Ser	rs1464010662	missense variant	-	NC_000019.10:g.44759589C>T	gnomAD
BCL3	P20749	p.Pro447Leu	rs369712125	missense variant	-	NC_000019.10:g.44759590C>T	ESP,ExAC,gnomAD
BCL3	P20749	p.Pro447Arg	rs369712125	missense variant	-	NC_000019.10:g.44759590C>G	ESP,ExAC,gnomAD
BCL3	P20749	p.Ser448Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44759593C>T	NCI-TCGA
BCL3	P20749	p.Ser448ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.44759586C>-	NCI-TCGA
BCL3	P20749	p.Pro449Ala	rs764859226	missense variant	-	NC_000019.10:g.44759595C>G	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Ala450Val	rs1191776655	missense variant	-	NC_000019.10:g.44759599C>T	TOPMed
BCL3	P20749	p.Pro451Arg	rs1426376061	missense variant	-	NC_000019.10:g.44759602C>G	TOPMed
BCL3	P20749	p.Pro451Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44759601C>T	NCI-TCGA
BCL3	P20749	p.Gly452Ala	rs543205423	missense variant	-	NC_000019.10:g.44759605G>C	ExAC,TOPMed,gnomAD
BCL3	P20749	p.Gly452Arg	rs1257785739	missense variant	-	NC_000019.10:g.44759604G>A	TOPMed
BCL3	P20749	p.Ser454Cys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44759610A>T	NCI-TCGA
BCL3	P20749	p.Ter455Trp	rs1036661018	stop lost	-	NC_000019.10:g.44759615A>G	TOPMed
EDN2	P20800	p.Val2Asp	rs1160183209	missense variant	-	NC_000001.11:g.41484597A>T	TOPMed
EDN2	P20800	p.Val4Leu	rs191375504	missense variant	-	NC_000001.11:g.41484592C>G	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Val4Met	rs191375504	missense variant	-	NC_000001.11:g.41484592C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Pro5Ser	rs1438802470	missense variant	-	NC_000001.11:g.41484589G>A	gnomAD
EDN2	P20800	p.Pro5Arg	rs777500644	missense variant	-	NC_000001.11:g.41484588G>C	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Pro5Leu	rs777500644	missense variant	-	NC_000001.11:g.41484588G>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Trp8Leu	rs1411035938	missense variant	-	NC_000001.11:g.41484579C>A	gnomAD
EDN2	P20800	p.Cys9Tyr	rs1372925226	missense variant	-	NC_000001.11:g.41484576C>T	gnomAD
EDN2	P20800	p.Ser10Pro	rs1174446794	missense variant	-	NC_000001.11:g.41484574A>G	gnomAD
EDN2	P20800	p.Val11Ile	rs201073770	missense variant	-	NC_000001.11:g.41484571C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ala12Val	rs55914947	missense variant	-	NC_000001.11:g.41484567G>A	TOPMed,gnomAD
EDN2	P20800	p.Ala14Asp	rs1182257425	missense variant	-	NC_000001.11:g.41484561G>T	gnomAD
EDN2	P20800	p.Ala14Ser	rs1229789314	missense variant	-	NC_000001.11:g.41484562C>A	TOPMed
EDN2	P20800	p.Leu15Pro	rs1235690373	missense variant	-	NC_000001.11:g.41484558A>G	gnomAD
EDN2	P20800	p.Leu16Val	rs767782625	missense variant	-	NC_000001.11:g.41484556G>C	ExAC,gnomAD
EDN2	P20800	p.Val17Met	rs751525706	missense variant	-	NC_000001.11:g.41484553C>T	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Val17Leu	rs751525706	missense variant	-	NC_000001.11:g.41484553C>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.His20Arg	rs149831836	missense variant	-	NC_000001.11:g.41484543T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gly22Trp	rs922376128	missense variant	-	NC_000001.11:g.41484538C>A	TOPMed,gnomAD
EDN2	P20800	p.Gly22Arg	rs922376128	missense variant	-	NC_000001.11:g.41484538C>T	TOPMed,gnomAD
EDN2	P20800	p.Lys23Asn	rs1458425115	missense variant	-	NC_000001.11:g.41484199C>G	gnomAD
EDN2	P20800	p.Gly24Asp	rs1347676531	missense variant	-	NC_000001.11:g.41484197C>T	gnomAD
EDN2	P20800	p.Gly24Val	rs1347676531	missense variant	-	NC_000001.11:g.41484197C>A	gnomAD
EDN2	P20800	p.Gln32Ter	rs1405932807	stop gained	-	NC_000001.11:g.41484174G>A	gnomAD
EDN2	P20800	p.Ala34Val	rs41269471	missense variant	-	NC_000001.11:g.41484167G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ser35Pro	rs1324427970	missense variant	-	NC_000001.11:g.41484165A>G	TOPMed
EDN2	P20800	p.Ser36Leu	rs755097408	missense variant	-	NC_000001.11:g.41484161G>A	ExAC
EDN2	P20800	p.Ser37Thr	rs751828380	missense variant	-	NC_000001.11:g.41484159A>T	ExAC,gnomAD
EDN2	P20800	p.His38Tyr	rs1039710418	missense variant	-	NC_000001.11:g.41484156G>A	TOPMed,gnomAD
EDN2	P20800	p.Ala39Val	rs779966886	missense variant	-	NC_000001.11:g.41484152G>A	ExAC,gnomAD
EDN2	P20800	p.Ala39Gly	rs779966886	missense variant	-	NC_000001.11:g.41484152G>C	ExAC,gnomAD
EDN2	P20800	p.Thr42Ile	rs1263821009	missense variant	-	NC_000001.11:g.41484143G>A	gnomAD
EDN2	P20800	p.His43Asn	rs1256416467	missense variant	-	NC_000001.11:g.41484141G>T	TOPMed
EDN2	P20800	p.Arg45Trp	rs758555144	missense variant	-	NC_000001.11:g.41484135G>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg45Gln	rs750954810	missense variant	-	NC_000001.11:g.41484134C>T	ExAC,gnomAD
EDN2	P20800	p.Arg47Cys	rs926556784	missense variant	-	NC_000001.11:g.41484129G>A	TOPMed
EDN2	P20800	p.Arg47His	rs765913154	missense variant	-	NC_000001.11:g.41484128C>T	ExAC,gnomAD
EDN2	P20800	p.Arg48His	rs139814182	missense variant	-	NC_000001.11:g.41484125C>T	ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg48Cys	rs1226757295	missense variant	-	NC_000001.11:g.41484126G>A	gnomAD
EDN2	P20800	p.Ser50Phe	rs980626705	missense variant	-	NC_000001.11:g.41484119G>A	TOPMed,gnomAD
EDN2	P20800	p.Trp54Ter	rs1365023065	stop gained	-	NC_000001.11:g.41484107C>T	gnomAD
EDN2	P20800	p.Trp54Cys	rs1292475602	missense variant	-	NC_000001.11:g.41484106C>A	gnomAD
EDN2	P20800	p.Asp56Gly	COSM4008000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41484101T>C	NCI-TCGA Cosmic
EDN2	P20800	p.Asp56Asn	rs1200002823	missense variant	-	NC_000001.11:g.41484102C>T	TOPMed
EDN2	P20800	p.Val60Phe	rs141782070	missense variant	-	NC_000001.11:g.41484090C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Val60Ile	rs141782070	missense variant	-	NC_000001.11:g.41484090C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Tyr61Cys	rs1404895096	missense variant	-	NC_000001.11:g.41484086T>C	TOPMed,gnomAD
EDN2	P20800	p.Asp66His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.41484072C>G	NCI-TCGA
EDN2	P20800	p.Ile67Leu	rs770321437	missense variant	-	NC_000001.11:g.41484069T>G	ExAC,gnomAD
EDN2	P20800	p.Ile67Val	rs770321437	missense variant	-	NC_000001.11:g.41484069T>C	ExAC,gnomAD
EDN2	P20800	p.Ile68Leu	rs201643440	missense variant	-	NC_000001.11:g.41484066T>G	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ile68Val	rs201643440	missense variant	-	NC_000001.11:g.41484066T>C	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ile68Asn	rs748090585	missense variant	-	NC_000001.11:g.41484065A>T	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Thr72Ile	rs376284156	missense variant	-	NC_000001.11:g.41484053G>A	ESP,TOPMed,gnomAD
EDN2	P20800	p.Gln75Glu	rs1350511975	missense variant	-	NC_000001.11:g.41482587G>C	gnomAD
EDN2	P20800	p.Thr76Ile	rs200003277	missense variant	-	NC_000001.11:g.41482583G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gly80Asp	COSM3489656	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41482571C>T	NCI-TCGA Cosmic
EDN2	P20800	p.Gly80Ser	rs1303208225	missense variant	-	NC_000001.11:g.41482572C>T	TOPMed,gnomAD
EDN2	P20800	p.Gly80Val	rs1470449905	missense variant	-	NC_000001.11:g.41482571C>A	gnomAD
EDN2	P20800	p.Leu81Gln	COSM1127013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41482568A>T	NCI-TCGA Cosmic
EDN2	P20800	p.Gly82Glu	rs761698280	missense variant	-	NC_000001.11:g.41482565C>T	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Asn83Thr	rs776678882	missense variant	-	NC_000001.11:g.41482562T>G	ExAC,gnomAD
EDN2	P20800	p.Pro84Ser	rs768322245	missense variant	-	NC_000001.11:g.41482560G>A	ExAC,gnomAD
EDN2	P20800	p.Pro84Leu	rs746888124	missense variant	-	NC_000001.11:g.41482559G>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Pro85Ser	rs746112557	missense variant	-	NC_000001.11:g.41482557G>A	ExAC,gnomAD
EDN2	P20800	p.Arg87Leu	rs757449064	missense variant	-	NC_000001.11:g.41482550C>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg87His	rs757449064	missense variant	-	NC_000001.11:g.41482550C>T	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg87Cys	rs779091830	missense variant	-	NC_000001.11:g.41482551G>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg88Pro	COSM426274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41482547C>G	NCI-TCGA Cosmic
EDN2	P20800	p.Arg88Trp	rs200513885	missense variant	-	NC_000001.11:g.41482548G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg88Gln	rs538985161	missense variant	-	NC_000001.11:g.41482547C>T	ExAC,gnomAD
EDN2	P20800	p.Arg89His	rs757998837	missense variant	-	NC_000001.11:g.41482544C>T	ExAC,gnomAD
EDN2	P20800	p.Arg89Cys	rs376618881	missense variant	-	NC_000001.11:g.41482545G>A	ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg90His	rs543002523	missense variant	-	NC_000001.11:g.41482541C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg90Cys	rs144539806	missense variant	-	NC_000001.11:g.41482542G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Leu92Val	rs1386201260	missense variant	-	NC_000001.11:g.41482536G>C	TOPMed
EDN2	P20800	p.Arg94Thr	COSM3489654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41482529C>G	NCI-TCGA Cosmic
EDN2	P20800	p.Arg95Cys	rs967704945	missense variant	-	NC_000001.11:g.41482527G>A	TOPMed
EDN2	P20800	p.Arg95His	rs1454398358	missense variant	-	NC_000001.11:g.41482526C>T	gnomAD
EDN2	P20800	p.Gln97Pro	rs1161877324	missense variant	-	NC_000001.11:g.41482520T>G	TOPMed
EDN2	P20800	p.Cys98Arg	rs764024548	missense variant	-	NC_000001.11:g.41482518A>G	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ser99Phe	rs1318791593	missense variant	-	NC_000001.11:g.41482514G>A	TOPMed,gnomAD
EDN2	P20800	p.Ser99Cys	rs1318791593	missense variant	-	NC_000001.11:g.41482514G>C	TOPMed,gnomAD
EDN2	P20800	p.Ser100Arg	rs760540746	missense variant	-	NC_000001.11:g.41482512T>G	ExAC,gnomAD
EDN2	P20800	p.Ala101Asp	rs772020788	missense variant	-	NC_000001.11:g.41482508G>T	ExAC,gnomAD
EDN2	P20800	p.Ala101Thr	rs996084776	missense variant	-	NC_000001.11:g.41482509C>T	TOPMed,gnomAD
EDN2	P20800	p.Arg102Thr	rs554208821	missense variant	-	NC_000001.11:g.41482505C>G	1000Genomes,ExAC,gnomAD
EDN2	P20800	p.Arg102Lys	rs554208821	missense variant	-	NC_000001.11:g.41482505C>T	1000Genomes,ExAC,gnomAD
EDN2	P20800	p.Asp103Asn	rs1317112135	missense variant	-	NC_000001.11:g.41482503C>T	TOPMed
EDN2	P20800	p.Asp103Ala	rs540846506	missense variant	-	NC_000001.11:g.41482502T>G	1000Genomes,ExAC,gnomAD
EDN2	P20800	p.Pro104His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.41482499G>T	NCI-TCGA
EDN2	P20800	p.Ala105Ser	rs201905094	missense variant	-	NC_000001.11:g.41482497C>A	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ala105Thr	rs201905094	missense variant	-	NC_000001.11:g.41482497C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Cys106Ser	rs756588267	missense variant	-	NC_000001.11:g.41482493C>G	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Thr108Asn	rs781498204	missense variant	-	NC_000001.11:g.41482487G>T	ExAC,gnomAD
EDN2	P20800	p.Thr108Ile	rs781498204	missense variant	-	NC_000001.11:g.41482487G>A	ExAC,gnomAD
EDN2	P20800	p.Arg112Ter	rs1265994456	stop gained	-	NC_000001.11:g.41482476G>A	gnomAD
EDN2	P20800	p.Arg112Gln	rs558455490	missense variant	-	NC_000001.11:g.41482475C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg113Ser	rs753329833	missense variant	-	NC_000001.11:g.41482471C>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Pro114Ser	rs1296580434	missense variant	-	NC_000001.11:g.41482470G>A	gnomAD
EDN2	P20800	p.Pro114Leu	rs1434727733	missense variant	-	NC_000001.11:g.41482469G>A	gnomAD
EDN2	P20800	p.Glu117Gln	rs759554381	missense variant	-	NC_000001.11:g.41481189C>G	ExAC,gnomAD
EDN2	P20800	p.Ala118Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.41481186C>T	NCI-TCGA
EDN2	P20800	p.Ala118Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.41481185G>C	NCI-TCGA
EDN2	P20800	p.Gly119Trp	COSM3489653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41481183C>A	NCI-TCGA Cosmic
EDN2	P20800	p.Gly119Arg	rs151334316	missense variant	-	NC_000001.11:g.41481183C>T	ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gly119Arg	rs151334316	missense variant	-	NC_000001.11:g.41481183C>G	ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ala120Thr	rs769894818	missense variant	-	NC_000001.11:g.41481180C>T	ExAC,gnomAD
EDN2	P20800	p.Val121Ala	rs573981830	missense variant	-	NC_000001.11:g.41481176A>G	1000Genomes,ExAC,gnomAD
EDN2	P20800	p.Pro122Ser	rs769091946	missense variant	-	NC_000001.11:g.41481174G>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg124Leu	rs369530496	missense variant	-	NC_000001.11:g.41481167C>A	ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg124Trp	rs747534812	missense variant	-	NC_000001.11:g.41481168G>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg124Gln	rs369530496	missense variant	-	NC_000001.11:g.41481167C>T	ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ser126Phe	rs1348667164	missense variant	-	NC_000001.11:g.41481161G>A	gnomAD
EDN2	P20800	p.Pro127Ser	rs772359389	missense variant	-	NC_000001.11:g.41481159G>A	ExAC,gnomAD
EDN2	P20800	p.Ala128Glu	rs1443489988	missense variant	-	NC_000001.11:g.41481155G>T	gnomAD
EDN2	P20800	p.Asp129Glu	rs537422972	missense variant	-	NC_000001.11:g.41481151G>T	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Val130Leu	rs199637889	missense variant	-	NC_000001.11:g.41481150C>G	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Val130Met	rs199637889	missense variant	-	NC_000001.11:g.41481150C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Phe131Leu	rs1413595404	missense variant	-	NC_000001.11:g.41481145G>C	gnomAD
EDN2	P20800	p.Phe131Ser	rs1366057213	missense variant	-	NC_000001.11:g.41481146A>G	TOPMed,gnomAD
EDN2	P20800	p.Thr133Ser	rs752192367	missense variant	-	NC_000001.11:g.41481140G>C	ExAC,gnomAD
EDN2	P20800	p.Thr133Ala	rs149196973	missense variant	-	NC_000001.11:g.41481141T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gly134Ala	rs780865794	missense variant	-	NC_000001.11:g.41481137C>G	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gly134Val	rs780865794	missense variant	-	NC_000001.11:g.41481137C>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gly137Arg	rs1197957411	missense variant	-	NC_000001.11:g.41481129C>G	TOPMed
EDN2	P20800	p.Ala138Thr	rs1471119412	missense variant	-	NC_000001.11:g.41481126C>T	gnomAD
EDN2	P20800	p.Thr139Ser	rs946505486	missense variant	-	NC_000001.11:g.41481123T>A	TOPMed,gnomAD
EDN2	P20800	p.Thr139Ala	rs946505486	missense variant	-	NC_000001.11:g.41481123T>C	TOPMed,gnomAD
EDN2	P20800	p.Thr140Ala	rs373524087	missense variant	-	NC_000001.11:g.41481120T>C	TOPMed,gnomAD
EDN2	P20800	p.Thr140Ile	rs200548746	missense variant	-	NC_000001.11:g.41481119G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gly141Arg	rs539100058	missense variant	-	NC_000001.11:g.41481117C>T	1000Genomes,ExAC,gnomAD
EDN2	P20800	p.Gly141Glu	rs376249785	missense variant	-	NC_000001.11:g.41481116C>T	ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gly141Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.41481117C>A	NCI-TCGA
EDN2	P20800	p.Leu144Ile	rs1327181818	missense variant	-	NC_000001.11:g.41481108G>T	gnomAD
EDN2	P20800	p.Arg146Ser	rs1224892187	missense variant	-	NC_000001.11:g.41481100C>A	gnomAD
EDN2	P20800	p.Asp149Glu	rs145939049	missense variant	-	NC_000001.11:g.41479499G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Asp149Asn	rs767848243	missense variant	-	NC_000001.11:g.41479501C>T	ExAC,gnomAD
EDN2	P20800	p.Asp149Gly	rs760106384	missense variant	-	NC_000001.11:g.41479500T>C	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ile150Ser	rs747772550	missense variant	-	NC_000001.11:g.41479497A>C	ExAC,gnomAD
EDN2	P20800	p.Ser151Tyr	rs139181275	missense variant	-	NC_000001.11:g.41479494G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Thr152Ile	rs768268158	missense variant	-	NC_000001.11:g.41479491G>A	ExAC,gnomAD
EDN2	P20800	p.Val153Asp	rs1430261693	missense variant	-	NC_000001.11:g.41479488A>T	TOPMed,gnomAD
EDN2	P20800	p.Ser155Arg	rs746585275	missense variant	-	NC_000001.11:g.41479481G>T	ExAC,gnomAD
EDN2	P20800	p.Phe157LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.41479478G>-	NCI-TCGA
EDN2	P20800	p.Lys159Glu	COSM909558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41479471T>C	NCI-TCGA Cosmic
EDN2	P20800	p.Arg160Ter	rs149418801	stop gained	-	NC_000001.11:g.41479468G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg160Gln	rs758218979	missense variant	-	NC_000001.11:g.41479467C>T	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gln162His	rs757089517	missense variant	-	NC_000001.11:g.41479460C>G	ExAC
EDN2	P20800	p.Gln162Ter	rs778540509	stop gained	-	NC_000001.11:g.41479462G>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Gln162Glu	rs778540509	missense variant	-	NC_000001.11:g.41479462G>C	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Glu163Gly	rs754042776	missense variant	-	NC_000001.11:g.41479458T>C	ExAC,gnomAD
EDN2	P20800	p.Ala164Val	rs778033191	missense variant	-	NC_000001.11:g.41479455G>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Ala164Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.41479455G>T	NCI-TCGA
EDN2	P20800	p.Met165Thr	rs1448633590	missense variant	-	NC_000001.11:g.41479452A>G	TOPMed
EDN2	P20800	p.Met165Leu	rs1256478653	missense variant	-	NC_000001.11:g.41479453T>A	gnomAD
EDN2	P20800	p.Arg166Trp	rs764912588	missense variant	-	NC_000001.11:g.41479450G>A	ExAC,gnomAD
EDN2	P20800	p.Arg166Gln	rs181076869	missense variant	-	NC_000001.11:g.41479449C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Glu167Lys	rs113626781	missense variant	-	NC_000001.11:g.41479447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Glu167Ter	rs113626781	stop gained	-	NC_000001.11:g.41479447C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Glu167Gln	rs113626781	missense variant	-	NC_000001.11:g.41479447C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Pro168Thr	rs966145424	missense variant	-	NC_000001.11:g.41479444G>T	TOPMed
EDN2	P20800	p.Pro168Leu	rs11572371	missense variant	-	NC_000001.11:g.41479443G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDN2	P20800	p.Arg169Pro	rs754563700	missense variant	-	NC_000001.11:g.41479440C>G	TOPMed,gnomAD
EDN2	P20800	p.Arg169Gln	rs754563700	missense variant	-	NC_000001.11:g.41479440C>T	TOPMed,gnomAD
EDN2	P20800	p.Arg169Trp	rs776419313	missense variant	-	NC_000001.11:g.41479441G>A	ExAC,TOPMed,gnomAD
EDN2	P20800	p.Thr171Ile	rs1234892419	missense variant	-	NC_000001.11:g.41479434G>A	TOPMed,gnomAD
EDN2	P20800	p.His172Leu	rs768364381	missense variant	-	NC_000001.11:g.41479431T>A	ExAC,gnomAD
EDN2	P20800	p.Ser173Ala	rs760398482	missense variant	-	NC_000001.11:g.41479429A>C	ExAC,gnomAD
EDN2	P20800	p.Ser173Phe	rs774820387	missense variant	-	NC_000001.11:g.41479428G>A	ExAC,gnomAD
EDN2	P20800	p.Arg174Ser	rs1161860646	missense variant	-	NC_000001.11:g.41479424C>G	gnomAD
EDN2	P20800	p.Trp175Arg	rs771652257	missense variant	-	NC_000001.11:g.41479423A>G	ExAC,gnomAD
EDN2	P20800	p.Trp175Ter	rs745767820	stop gained	-	NC_000001.11:g.41479422C>T	ExAC,gnomAD
EDN2	P20800	p.Arg176Ser	rs1342015109	missense variant	-	NC_000001.11:g.41479418C>G	gnomAD
EDN2	P20800	p.Arg176Lys	rs778877517	missense variant	-	NC_000001.11:g.41479419C>T	ExAC,gnomAD
FGFR2	P21802	p.Ser3Thr	rs1271629959	missense variant	-	NC_000010.11:g.121593810C>G	TOPMed
FGFR2	P21802	p.Gly5Cys	rs1346210003	missense variant	-	NC_000010.11:g.121593805C>A	gnomAD
FGFR2	P21802	p.Arg6His	rs3750819	missense variant	-	NC_000010.11:g.121593801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg6Pro	rs3750819	missense variant	-	NC_000010.11:g.121593801C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg6Pro	rs3750819	missense variant	-	NC_000010.11:g.121593801C>G	UniProt,dbSNP
FGFR2	P21802	p.Arg6Pro	VAR_017258	missense variant	-	NC_000010.11:g.121593801C>G	UniProt
FGFR2	P21802	p.Arg6Cys	rs141724446	missense variant	-	NC_000010.11:g.121593802G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg6Cys	rs141724446	missense variant	-	NC_000010.11:g.121593802G>A	NCI-TCGA,NCI-TCGA Cosmic
FGFR2	P21802	p.Arg6Pro	RCV000554983	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000121060	missense variant	-	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000360397	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000271967	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000265971	missense variant	Isolated coronal synostosis	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000354781	missense variant	Acrocephalosyndactyly type I	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000299960	missense variant	Levy-Hollister syndrome (LADD)	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000260043	missense variant	Cutis Gyrata syndrome of Beare and Stevenson (BSTVS)	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000305951	missense variant	Crouzon syndrome	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000366350	missense variant	-	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Arg6Pro	RCV000321039	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121593801C>G	ClinVar
FGFR2	P21802	p.Ile8Ser	rs147307031	missense variant	-	NC_000010.11:g.121593795A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ile8Ser	RCV000121062	missense variant	-	NC_000010.11:g.121593795A>C	ClinVar
FGFR2	P21802	p.Ile8Val	rs1287624070	missense variant	-	NC_000010.11:g.121593796T>C	gnomAD
FGFR2	P21802	p.Ile8Ser	RCV000655422	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121593795A>C	ClinVar
FGFR2	P21802	p.Cys9Gly	rs1479661228	missense variant	-	NC_000010.11:g.121593793A>C	TOPMed
FGFR2	P21802	p.Leu10Val	rs370122049	missense variant	-	NC_000010.11:g.121593790G>C	ESP,ExAC,gnomAD
FGFR2	P21802	p.Val12Met	rs143978938	missense variant	-	NC_000010.11:g.121593784C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Val12Met	RCV000432180	missense variant	-	NC_000010.11:g.121593784C>T	ClinVar
FGFR2	P21802	p.Val12Met	rs143978938	missense variant	-	NC_000010.11:g.121593784C>T	NCI-TCGA,NCI-TCGA Cosmic
FGFR2	P21802	p.Thr14Ile	rs753987054	missense variant	-	NC_000010.11:g.121593777G>A	ExAC,gnomAD
FGFR2	P21802	p.Met15Leu	rs1451094453	missense variant	-	NC_000010.11:g.121593775T>G	gnomAD
FGFR2	P21802	p.Ala16Thr	rs984992964	missense variant	-	NC_000010.11:g.121593772C>T	TOPMed
FGFR2	P21802	p.Thr17Ser	rs766435280	missense variant	-	NC_000010.11:g.121593768G>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Thr17Ala	rs1417346628	missense variant	-	NC_000010.11:g.121593769T>C	TOPMed,gnomAD
FGFR2	P21802	p.Thr17Ile	rs766435280	missense variant	-	NC_000010.11:g.121593768G>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Thr17Ser	rs1417346628	missense variant	-	NC_000010.11:g.121593769T>A	TOPMed,gnomAD
FGFR2	P21802	p.Ser19Phe	rs760903123	missense variant	-	NC_000010.11:g.121593762G>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ser19Cys	rs760903123	missense variant	-	NC_000010.11:g.121593762G>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala21Val	rs773358865	missense variant	-	NC_000010.11:g.121593756G>A	ExAC,gnomAD
FGFR2	P21802	p.Arg22Gln	rs189010277	missense variant	-	NC_000010.11:g.121593753C>T	NCI-TCGA,NCI-TCGA Cosmic
FGFR2	P21802	p.Arg22Gln	rs189010277	missense variant	-	NC_000010.11:g.121593753C>T	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Arg22Trp	rs377570596	missense variant	-	NC_000010.11:g.121593754G>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Pro23His	rs774554190	missense variant	-	NC_000010.11:g.121593750G>T	ExAC,gnomAD
FGFR2	P21802	p.Pro23Thr	rs1309596973	missense variant	-	NC_000010.11:g.121593751G>T	TOPMed,gnomAD
FGFR2	P21802	p.Pro23Leu	rs774554190	missense variant	-	NC_000010.11:g.121593750G>A	ExAC,gnomAD
FGFR2	P21802	p.Ser26Arg	rs1466576334	missense variant	-	NC_000010.11:g.121593740A>C	gnomAD
FGFR2	P21802	p.Ser26Asn	rs1379302733	missense variant	-	NC_000010.11:g.121593741C>T	gnomAD
FGFR2	P21802	p.Leu27Val	rs1294518519	missense variant	-	NC_000010.11:g.121593739A>C	gnomAD
FGFR2	P21802	p.Thr32Ala	rs775194870	missense variant	-	NC_000010.11:g.121593724T>C	ExAC,gnomAD
FGFR2	P21802	p.Leu33Ile	rs1298138650	missense variant	-	NC_000010.11:g.121593721A>T	TOPMed
FGFR2	P21802	p.Glu34Gln	rs373546701	missense variant	-	NC_000010.11:g.121593718C>G	ESP,ExAC,gnomAD
FGFR2	P21802	p.Pro38Ser	rs775973432	missense variant	-	NC_000010.11:g.121565702G>A	ExAC,gnomAD
FGFR2	P21802	p.Pro38Leu	rs1248875226	missense variant	-	NC_000010.11:g.121565701G>A	gnomAD
FGFR2	P21802	p.Pro39Ser	rs1488994705	missense variant	-	NC_000010.11:g.121565699G>A	gnomAD
FGFR2	P21802	p.Thr40Ile	rs746629822	missense variant	-	NC_000010.11:g.121565695G>A	ExAC,gnomAD
FGFR2	P21802	p.Lys41Glu	rs1212310813	missense variant	-	NC_000010.11:g.121565693T>C	gnomAD
FGFR2	P21802	p.Tyr42Phe	rs1333561230	missense variant	-	NC_000010.11:g.121565689T>A	gnomAD
FGFR2	P21802	p.Gln43Lys	rs777638930	missense variant	-	NC_000010.11:g.121565687G>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Gln43His	rs771790476	missense variant	-	NC_000010.11:g.121565685T>G	ExAC,gnomAD
FGFR2	P21802	p.Ile44Leu	COSM1346350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121565684T>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Gln46His	rs748117555	missense variant	-	NC_000010.11:g.121565676T>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Gln46His	RCV000415491	missense variant	Craniosynostosis, nonspecific	NC_000010.11:g.121565676T>G	ClinVar
FGFR2	P21802	p.Pro47Ser	rs1367082521	missense variant	-	NC_000010.11:g.121565675G>A	TOPMed
FGFR2	P21802	p.Glu48Ala	rs200700308	missense variant	-	NC_000010.11:g.121565671T>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Val49Gly	rs1372877545	missense variant	-	NC_000010.11:g.121565668A>C	gnomAD
FGFR2	P21802	p.Tyr50Phe	RCV000678347	missense variant	-	NC_000010.11:g.121565665T>A	ClinVar
FGFR2	P21802	p.Tyr50Phe	rs1398842143	missense variant	-	NC_000010.11:g.121565665T>A	TOPMed
FGFR2	P21802	p.Val51Met	rs1307462454	missense variant	-	NC_000010.11:g.121565663C>T	TOPMed
FGFR2	P21802	p.Ala53Val	rs371358242	missense variant	-	NC_000010.11:g.121565656G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Pro54Ser	rs151126801	missense variant	-	NC_000010.11:g.121565654G>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Pro54Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121565653G>T	NCI-TCGA
FGFR2	P21802	p.Gly55Arg	rs971937812	missense variant	-	NC_000010.11:g.121565651C>T	TOPMed
FGFR2	P21802	p.Ser57Ala	rs1158629849	missense variant	-	NC_000010.11:g.121565645A>C	gnomAD
FGFR2	P21802	p.Ser57Leu	rs56226109	missense variant	-	NC_000010.11:g.121565644G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ser57Leu	rs56226109	missense variant	-	NC_000010.11:g.121565644G>A	UniProt,dbSNP
FGFR2	P21802	p.Ser57Leu	VAR_042204	missense variant	-	NC_000010.11:g.121565644G>A	UniProt
FGFR2	P21802	p.Ser57Leu	RCV000121064	missense variant	-	NC_000010.11:g.121565644G>A	ClinVar
FGFR2	P21802	p.Arg61Cys	rs1354205157	missense variant	-	NC_000010.11:g.121565633G>A	gnomAD
FGFR2	P21802	p.Arg61Leu	rs199575491	missense variant	-	NC_000010.11:g.121565632C>A	1000Genomes,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg61His	rs199575491	missense variant	-	NC_000010.11:g.121565632C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Cys62Tyr	rs1468387033	missense variant	-	NC_000010.11:g.121565629C>T	gnomAD
FGFR2	P21802	p.Lys65Glu	rs760115258	missense variant	-	NC_000010.11:g.121565621T>C	ExAC,gnomAD
FGFR2	P21802	p.Asp66Asn	rs148514974	missense variant	-	NC_000010.11:g.121565618C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala67Val	rs145746586	missense variant	-	NC_000010.11:g.121565614G>A	ExAC,gnomAD
FGFR2	P21802	p.Ala68Thr	rs374996878	missense variant	-	NC_000010.11:g.121565612C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala68Pro	rs374996878	missense variant	-	NC_000010.11:g.121565612C>G	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala68Val	rs537841180	missense variant	-	NC_000010.11:g.121565611G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Val69Met	rs371714070	missense variant	-	NC_000010.11:g.121565609C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Val69Ala	rs1428037640	missense variant	-	NC_000010.11:g.121565608A>G	TOPMed
FGFR2	P21802	p.Ile70Val	rs768650541	missense variant	-	NC_000010.11:g.121565606T>C	ExAC,gnomAD
FGFR2	P21802	p.Trp72Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121565598C>G	NCI-TCGA
FGFR2	P21802	p.Asp75Asn	COSM6128294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121565591C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Gly76Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121565588C>T	NCI-TCGA
FGFR2	P21802	p.Val77Met	rs757219761	missense variant	-	NC_000010.11:g.121565585C>T	ExAC
FGFR2	P21802	p.Val77Glu	rs1376151869	missense variant	-	NC_000010.11:g.121565584A>T	TOPMed
FGFR2	P21802	p.His78Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121565582G>T	NCI-TCGA
FGFR2	P21802	p.Leu79Phe	COSM3434816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121565577C>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Pro81Leu	rs753179677	missense variant	-	NC_000010.11:g.121565572G>A	ExAC,gnomAD
FGFR2	P21802	p.Asn82Ser	rs1172232293	missense variant	-	NC_000010.11:g.121565569T>C	gnomAD
FGFR2	P21802	p.Asn82Lys	rs1378298459	missense variant	-	NC_000010.11:g.121565568G>T	TOPMed
FGFR2	P21802	p.Asn83Asp	rs765682593	missense variant	-	NC_000010.11:g.121565567T>C	ExAC,gnomAD
FGFR2	P21802	p.Asn83Ser	rs748315048	missense variant	-	NC_000010.11:g.121565566T>C	gnomAD
FGFR2	P21802	p.Arg84Met	rs144714823	missense variant	-	NC_000010.11:g.121565563C>A	-
FGFR2	P21802	p.Arg84Ser	rs779848635	missense variant	-	NC_000010.11:g.121565562C>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Thr85Ala	rs1315026296	missense variant	-	NC_000010.11:g.121565561T>C	TOPMed,gnomAD
FGFR2	P21802	p.Val86Met	rs1396687223	missense variant	-	NC_000010.11:g.121565558C>T	TOPMed,gnomAD
FGFR2	P21802	p.Leu87Pro	COSM3434813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121565554A>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Ile88Thr	rs200369248	missense variant	-	NC_000010.11:g.121565551A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu90Ala	COSM4012203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121565545T>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Gly96Val	rs1277734487	missense variant	-	NC_000010.11:g.121565527C>A	TOPMed,gnomAD
FGFR2	P21802	p.Ala97Thr	rs372430349	missense variant	-	NC_000010.11:g.121565525C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala97Val	COSM4012198	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121565524G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Ala97Thr	RCV000592272	missense variant	-	NC_000010.11:g.121565525C>T	ClinVar
FGFR2	P21802	p.Thr98Arg	rs1041970177	missense variant	-	NC_000010.11:g.121565521G>C	TOPMed,gnomAD
FGFR2	P21802	p.Thr98Met	rs1041970177	missense variant	-	NC_000010.11:g.121565521G>A	TOPMed,gnomAD
FGFR2	P21802	p.Thr98Ala	rs1483189961	missense variant	-	NC_000010.11:g.121565522T>C	TOPMed
FGFR2	P21802	p.Pro99Ser	COSM4921717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121565519G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg100Lys	rs774193926	missense variant	-	NC_000010.11:g.121565515C>T	ExAC,gnomAD
FGFR2	P21802	p.Arg100Gly	rs1324769001	missense variant	-	NC_000010.11:g.121565516T>C	gnomAD
FGFR2	P21802	p.Asp101Tyr	COSM1152154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121565513C>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Leu104Phe	rs775253363	missense variant	-	NC_000010.11:g.121565504G>A	ExAC,gnomAD
FGFR2	P21802	p.Tyr105Cys	rs1434545235	missense variant	-	NC_000010.11:g.121565500T>C	gnomAD
FGFR2	P21802	p.Tyr105Cys	RCV000531359	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121565500T>C	ClinVar
FGFR2	P21802	p.Tyr105Cys	RCV000762805	missense variant	Acrocephalosyndactyly type I	NC_000010.11:g.121565500T>C	ClinVar
FGFR2	P21802	p.Tyr105Cys	RCV000522502	missense variant	-	NC_000010.11:g.121565500T>C	ClinVar
FGFR2	P21802	p.Thr108Ala	rs1188185824	missense variant	-	NC_000010.11:g.121565492T>C	TOPMed
FGFR2	P21802	p.Thr108Ser	COSM1584811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121565491G>C	NCI-TCGA Cosmic
FGFR2	P21802	p.Ser110Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121565484A>T	NCI-TCGA
FGFR2	P21802	p.Thr112Ala	rs1055824076	missense variant	-	NC_000010.11:g.121565480T>C	TOPMed
FGFR2	P21802	p.Val113Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121565476A>G	NCI-TCGA
FGFR2	P21802	p.Ser115Asn	rs867109770	missense variant	-	NC_000010.11:g.121565470C>T	TOPMed,gnomAD
FGFR2	P21802	p.Ser115Cys	rs1170178043	missense variant	-	NC_000010.11:g.121565471T>A	gnomAD
FGFR2	P21802	p.Trp118Leu	rs139263005	missense variant	-	NC_000010.11:g.121565461C>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Trp118Ter	rs139263005	stop gained	-	NC_000010.11:g.121565461C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Trp118Ser	rs139263005	missense variant	-	NC_000010.11:g.121565461C>G	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Phe120Leu	rs758751243	missense variant	-	NC_000010.11:g.121565454G>T	ExAC,gnomAD
FGFR2	P21802	p.Met121Thr	rs748322657	missense variant	-	NC_000010.11:g.121565452A>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met121Leu	rs910002462	missense variant	-	NC_000010.11:g.121565453T>A	TOPMed,gnomAD
FGFR2	P21802	p.Val122Met	rs779423644	missense variant	-	NC_000010.11:g.121565450C>T	ExAC,gnomAD
FGFR2	P21802	p.Asn123Ser	rs375935265	missense variant	-	NC_000010.11:g.121565446T>C	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp126Gly	rs1337077719	missense variant	-	NC_000010.11:g.121564579T>C	gnomAD
FGFR2	P21802	p.Asp126Asn	rs1057523040	missense variant	-	NC_000010.11:g.121565438C>T	gnomAD
FGFR2	P21802	p.Asp126Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121565438C>A	NCI-TCGA
FGFR2	P21802	p.Asp126Asn	RCV000435241	missense variant	-	NC_000010.11:g.121565438C>T	ClinVar
FGFR2	P21802	p.Ile128Thr	rs1271274434	missense variant	-	NC_000010.11:g.121564573A>G	gnomAD
FGFR2	P21802	p.Ser129Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121564570G>A	NCI-TCGA
FGFR2	P21802	p.Gly131Arg	rs780458049	missense variant	-	NC_000010.11:g.121564565C>T	ExAC,gnomAD
FGFR2	P21802	p.Asp133Asn	rs1281483681	missense variant	-	NC_000010.11:g.121564559C>T	gnomAD
FGFR2	P21802	p.Asp133Glu	rs373155033	missense variant	-	NC_000010.11:g.121564557A>C	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp133Val	rs750876096	missense variant	-	NC_000010.11:g.121564558T>A	ExAC,gnomAD
FGFR2	P21802	p.Glu134Val	rs751236652	missense variant	-	NC_000010.11:g.121564555T>A	ExAC,gnomAD
FGFR2	P21802	p.Asp136Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121564550C>A	NCI-TCGA
FGFR2	P21802	p.Thr137Ile	rs1267514450	missense variant	-	NC_000010.11:g.121564546G>A	TOPMed,gnomAD
FGFR2	P21802	p.Asp138Gly	rs1435487500	missense variant	-	NC_000010.11:g.121564543T>C	TOPMed
FGFR2	P21802	p.Asp138Asn	rs938460066	missense variant	-	NC_000010.11:g.121564544C>T	TOPMed
FGFR2	P21802	p.Gly139Asp	rs1324703247	missense variant	-	NC_000010.11:g.121564540C>T	gnomAD
FGFR2	P21802	p.Gly139Ser	rs927047637	missense variant	-	NC_000010.11:g.121564541C>T	TOPMed,gnomAD
FGFR2	P21802	p.Ala140Thr	rs762636391	missense variant	-	NC_000010.11:g.121564538C>T	ExAC,gnomAD
FGFR2	P21802	p.Ala140Val	rs752501698	missense variant	-	NC_000010.11:g.121564537G>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu141Lys	rs759550441	missense variant	-	NC_000010.11:g.121564535C>T	ExAC,gnomAD
FGFR2	P21802	p.Asp142Asn	COSM3866663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121564532C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Val144Ile	rs1195425758	missense variant	-	NC_000010.11:g.121564526C>T	gnomAD
FGFR2	P21802	p.Glu146Gly	rs776668623	missense variant	-	NC_000010.11:g.121564519T>C	ExAC,gnomAD
FGFR2	P21802	p.Asn147Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121564517T>C	NCI-TCGA
FGFR2	P21802	p.Ser148Arg	rs772298926	missense variant	-	NC_000010.11:g.121564514T>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ser148Gly	rs772298926	missense variant	-	NC_000010.11:g.121564514T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asn149Lys	rs1236074902	missense variant	-	NC_000010.11:g.121564509G>C	TOPMed
FGFR2	P21802	p.Asn149Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121564511T>C	NCI-TCGA
FGFR2	P21802	p.Asn150Ser	rs762030875	missense variant	-	NC_000010.11:g.121564507T>C	ExAC,gnomAD
FGFR2	P21802	p.Lys151Asn	rs774538633	missense variant	-	NC_000010.11:g.121564503C>G	ExAC
FGFR2	P21802	p.Ala153Thr	rs775743948	missense variant	-	NC_000010.11:g.121551457C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala153Pro	rs775743948	missense variant	-	NC_000010.11:g.121551457C>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Tyr155Cys	rs1429393695	missense variant	-	NC_000010.11:g.121551450T>C	gnomAD
FGFR2	P21802	p.Thr157Ser	rs1314297833	missense variant	-	NC_000010.11:g.121551444G>C	gnomAD
FGFR2	P21802	p.Thr157Ile	rs1314297833	missense variant	-	NC_000010.11:g.121551444G>A	gnomAD
FGFR2	P21802	p.Thr157Ala	rs770169545	missense variant	-	NC_000010.11:g.121551445T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu160Ala	rs866357501	missense variant	-	NC_000010.11:g.121551435T>G	gnomAD
FGFR2	P21802	p.Met162Thr	rs1374572387	missense variant	-	NC_000010.11:g.121551429A>G	gnomAD
FGFR2	P21802	p.Glu163Lys	COSM2056326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121551427C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg165Gln	rs146244307	missense variant	-	NC_000010.11:g.121551420C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg165Trp	rs1171095092	missense variant	-	NC_000010.11:g.121551421G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg165Trp	rs1171095092	missense variant	-	NC_000010.11:g.121551421G>A	gnomAD
FGFR2	P21802	p.Ala168Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121551412C>T	NCI-TCGA
FGFR2	P21802	p.Ala172Phe	VAR_017259	Missense	Pfeiffer syndrome (PS) [MIM:101600]	-	UniProt
FGFR2	P21802	p.Asn173LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.121551395_121551396insT	NCI-TCGA
FGFR2	P21802	p.Asn173Ser	rs1477520217	missense variant	-	NC_000010.11:g.121551396T>C	gnomAD
FGFR2	P21802	p.Thr174Asn	COSM4994847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121551393G>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Lys176Thr	rs1190271376	missense variant	-	NC_000010.11:g.121551387T>G	gnomAD
FGFR2	P21802	p.Arg178Ser	rs974173968	missense variant	-	NC_000010.11:g.121551382G>T	TOPMed,gnomAD
FGFR2	P21802	p.Arg178Leu	rs141796960	missense variant	-	NC_000010.11:g.121551381C>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg178Cys	rs974173968	missense variant	-	NC_000010.11:g.121551382G>A	TOPMed,gnomAD
FGFR2	P21802	p.Arg178His	rs141796960	missense variant	-	NC_000010.11:g.121551381C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Gly182Trp	rs200766273	missense variant	-	NC_000010.11:g.121551370C>A	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Gly182Arg	rs200766273	missense variant	-	NC_000010.11:g.121551370C>T	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Gly182Arg	rs200766273	missense variant	-	NC_000010.11:g.121551370C>G	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Asn184Lys	rs750312209	missense variant	-	NC_000010.11:g.121551362G>C	ExAC,gnomAD
FGFR2	P21802	p.Asn184Lys	rs750312209	missense variant	-	NC_000010.11:g.121551362G>T	ExAC,gnomAD
FGFR2	P21802	p.Asn184Ile	rs202212545	missense variant	-	NC_000010.11:g.121551363T>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asn184ThrPheSerTerUnk	COSM5074298	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.121551365C>-	NCI-TCGA Cosmic
FGFR2	P21802	p.Asn184Thr	rs202212545	missense variant	-	NC_000010.11:g.121551363T>G	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met186Thr	rs755793	missense variant	-	NC_000010.11:g.121551357A>G	UniProt,dbSNP
FGFR2	P21802	p.Met186Thr	VAR_017260	missense variant	-	NC_000010.11:g.121551357A>G	UniProt
FGFR2	P21802	p.Met186Thr	rs755793	missense variant	-	NC_000010.11:g.121551357A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met186Thr	RCV000121066	missense variant	-	NC_000010.11:g.121551357A>G	ClinVar
FGFR2	P21802	p.Met186Val	rs55977237	missense variant	-	NC_000010.11:g.121551358T>C	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met186Thr	RCV000390607	missense variant	Crouzon syndrome	NC_000010.11:g.121551357A>G	ClinVar
FGFR2	P21802	p.Met186Thr	RCV000417413	missense variant	-	NC_000010.11:g.121551357A>G	ClinVar
FGFR2	P21802	p.Met186Thr	RCV000543983	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121551357A>G	ClinVar
FGFR2	P21802	p.Pro187Leu	RCV000722541	missense variant	-	NC_000010.11:g.121551354G>A	ClinVar
FGFR2	P21802	p.Thr188Ala	rs1352732939	missense variant	-	NC_000010.11:g.121551352T>C	gnomAD
FGFR2	P21802	p.Met189Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121551349T>G	NCI-TCGA
FGFR2	P21802	p.Arg190Trp	rs147987917	missense variant	-	NC_000010.11:g.121551346G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg190Gln	rs759750319	missense variant	-	NC_000010.11:g.121551345C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg190Gly	rs147987917	missense variant	-	NC_000010.11:g.121551346G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg190Trp	RCV000306598	missense variant	-	NC_000010.11:g.121551346G>A	ClinVar
FGFR2	P21802	p.Leu192Gln	rs777039355	missense variant	-	NC_000010.11:g.121551339A>T	ExAC
FGFR2	P21802	p.Asn194ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.121551333T>-	NCI-TCGA
FGFR2	P21802	p.Gly195Arg	rs1474313509	missense variant	-	NC_000010.11:g.121551331C>T	gnomAD
FGFR2	P21802	p.Gly195Glu	rs1409994363	missense variant	-	NC_000010.11:g.121551330C>T	TOPMed
FGFR2	P21802	p.Glu197Lys	rs1292300276	missense variant	-	NC_000010.11:g.121551325C>T	TOPMed
FGFR2	P21802	p.Arg203His	rs747502397	missense variant	-	NC_000010.11:g.121551306C>T	ExAC,gnomAD
FGFR2	P21802	p.Arg203His	rs747502397	missense variant	-	NC_000010.11:g.121551306C>T	NCI-TCGA,NCI-TCGA Cosmic
FGFR2	P21802	p.Arg203His	RCV000489500	missense variant	-	NC_000010.11:g.121551306C>T	ClinVar
FGFR2	P21802	p.Arg203Cys	VAR_036380	Missense	-	-	UniProt
FGFR2	P21802	p.Gly205Glu	rs1234891977	missense variant	-	NC_000010.11:g.121551300C>T	TOPMed
FGFR2	P21802	p.Gly206Ser	rs773718005	missense variant	-	NC_000010.11:g.121551298C>T	ExAC,gnomAD
FGFR2	P21802	p.Lys208Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121551290C>A	NCI-TCGA
FGFR2	P21802	p.Val209Leu	rs1373181160	missense variant	-	NC_000010.11:g.121538715C>A	gnomAD
FGFR2	P21802	p.Val209Leu	rs1373181160	missense variant	-	NC_000010.11:g.121538715C>G	gnomAD
FGFR2	P21802	p.Arg210Gly	rs1302963489	missense variant	-	NC_000010.11:g.121538712G>C	TOPMed
FGFR2	P21802	p.Arg210Gln	COSM174986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121538711C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg210Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121538711C>G	NCI-TCGA
FGFR2	P21802	p.Arg210Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.121538712G>A	NCI-TCGA
FGFR2	P21802	p.Gln212Lys	COSM2148965	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121538706G>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Trp214Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121538698C>A	NCI-TCGA
FGFR2	P21802	p.Ile217Met	rs1360830493	missense variant	-	NC_000010.11:g.121538689A>C	TOPMed
FGFR2	P21802	p.Glu219Gly	rs1390042185	missense variant	-	NC_000010.11:g.121538684T>C	gnomAD
FGFR2	P21802	p.Glu219Gly	rs1390042185	missense variant	-	NC_000010.11:g.121538684T>C	NCI-TCGA
FGFR2	P21802	p.Ser220Cys	COSM3434803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121538682T>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Ser224Pro	rs1216426276	missense variant	-	NC_000010.11:g.121538670A>G	TOPMed
FGFR2	P21802	p.Asp225Glu	rs537758598	missense variant	-	NC_000010.11:g.121538665G>C	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Gly227Glu	COSM29838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121538660C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Gly227Arg	COSM3434799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121538661C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Asn228Ile	rs146948953	missense variant	-	NC_000010.11:g.121538657T>A	ESP,TOPMed
FGFR2	P21802	p.Tyr229Phe	rs368224180	missense variant	-	NC_000010.11:g.121538654T>A	ESP,ExAC,gnomAD
FGFR2	P21802	p.Val233Met	rs1435694211	missense variant	-	NC_000010.11:g.121538643C>T	gnomAD
FGFR2	P21802	p.Glu234Ala	rs1432127277	missense variant	-	NC_000010.11:g.121538639T>G	gnomAD
FGFR2	P21802	p.Glu234Gln	rs779806520	missense variant	-	NC_000010.11:g.121538640C>G	ExAC,gnomAD
FGFR2	P21802	p.Glu236Ala	COSM1134980	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121538633T>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Tyr237His	COSM1134979	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121538631A>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Ser239Thr	rs555207905	missense variant	-	NC_000010.11:g.121538625A>T	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Ser239Phe	rs780846065	missense variant	-	NC_000010.11:g.121538624G>A	ExAC,gnomAD
FGFR2	P21802	p.Ile240Met	rs751395138	missense variant	-	NC_000010.11:g.121538620G>C	ExAC
FGFR2	P21802	p.Ile240Val	rs757276690	missense variant	-	NC_000010.11:g.121538622T>C	ExAC,gnomAD
FGFR2	P21802	p.Asn241Ser	rs929190618	missense variant	-	NC_000010.11:g.121538618T>C	TOPMed,gnomAD
FGFR2	P21802	p.Asn241Asp	rs1313917697	missense variant	-	NC_000010.11:g.121538619T>C	TOPMed
FGFR2	P21802	p.His242Tyr	COSM3434792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121538616G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Thr243Met	rs755001161	missense variant	-	NC_000010.11:g.121538612G>A	ExAC,gnomAD
FGFR2	P21802	p.Thr243Ala	rs778994181	missense variant	-	NC_000010.11:g.121538613T>C	ExAC,gnomAD
FGFR2	P21802	p.His245Tyr	rs1330602328	missense variant	-	NC_000010.11:g.121538607G>A	gnomAD
FGFR2	P21802	p.Asp247Ter	NCI-TCGA novel	frameshift	-	NC_000010.11:g.121538601_121538602insA	NCI-TCGA
FGFR2	P21802	p.Asp247Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121538601C>A	NCI-TCGA
FGFR2	P21802	p.Arg251Gln	COSM29828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121520166C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg251Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.121520167G>A	NCI-TCGA
FGFR2	P21802	p.Ser252Trp	rs79184941	missense variant	-	NC_000010.11:g.121520163G>C	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ser252Phe	rs121918498	missense variant	-	NC_000010.11:g.121520162_121520163delinsAA	-
FGFR2	P21802	p.Ser252Phe	rs121918498	missense variant	Apert syndrome (APRS)	NC_000010.11:g.121520162_121520163delinsAA	UniProt,dbSNP
FGFR2	P21802	p.Ser252Phe	VAR_004114	missense variant	Apert syndrome (APRS)	NC_000010.11:g.121520162_121520163delinsAA	UniProt
FGFR2	P21802	p.SerPro252SerPhe	rs387907372	missense variant	-	NC_000010.11:g.121520160_121520162delinsAAG	-
FGFR2	P21802	p.SerPro252PheSer	rs281865420	delins	Pfeiffer syndrome (PS)	NC_000010.11:g.121520161_121520163delinsAGA	UniProt,dbSNP
FGFR2	P21802	p.SerPro252PheSer	VAR_004116	delins	Pfeiffer syndrome (PS)	NC_000010.11:g.121520161_121520163delinsAGA	UniProt
FGFR2	P21802	p.Ser252Leu	rs79184941	missense variant	-	NC_000010.11:g.121520163G>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.SerPro252PheSer	rs281865420	missense variant	-	NC_000010.11:g.121520161_121520163delinsAGA	-
FGFR2	P21802	p.Ser252Trp	RCV000440715	missense variant	Adenocarcinoma of stomach	NC_000010.11:g.121520163G>C	ClinVar
FGFR2	P21802	p.Ser252Trp	RCV000438603	missense variant	Endometrial neoplasm	NC_000010.11:g.121520163G>C	ClinVar
FGFR2	P21802	p.Ser252Trp	RCV000433250	missense variant	Uterine Carcinosarcoma	NC_000010.11:g.121520163G>C	ClinVar
FGFR2	P21802	p.Ser252Leu	RCV000664049	missense variant	Crouzon syndrome	NC_000010.11:g.121520163G>A	ClinVar
FGFR2	P21802	p.Ser252Trp	RCV000422979	missense variant	Malignant neoplasm of body of uterus	NC_000010.11:g.121520163G>C	ClinVar
FGFR2	P21802	p.Ser252Trp	RCV000433942	missense variant	Acrocephalosyndactyly	NC_000010.11:g.121520163G>C	ClinVar
FGFR2	P21802	p.Ser252Trp	RCV000431027	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121520163G>C	ClinVar
FGFR2	P21802	p.Ser252PheSer	RCV000014202	missense variant	Pfeiffer syndrome variant	NC_000010.11:g.121520161_121520163delinsAGA	ClinVar
FGFR2	P21802	p.Ser252Trp	rs79184941	missense variant	-	NC_000010.11:g.121520163G>C	NCI-TCGA,NCI-TCGA Cosmic
FGFR2	P21802	p.Pro253Arg	rs77543610	missense variant	Apert syndrome (APRS)	NC_000010.11:g.121520160G>C	UniProt,dbSNP
FGFR2	P21802	p.Pro253Arg	VAR_004117	missense variant	Apert syndrome (APRS)	NC_000010.11:g.121520160G>C	UniProt
FGFR2	P21802	p.Pro253Leu	COSM1139349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121520160G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Pro253Arg	rs77543610	missense variant	-	NC_000010.11:g.121520160G>C	NCI-TCGA,NCI-TCGA Cosmic
FGFR2	P21802	p.Pro253Arg	RCV000436870	missense variant	Head and Neck Neoplasms	NC_000010.11:g.121520160G>C	ClinVar
FGFR2	P21802	p.Pro253Phe	RCV000049281	missense variant	Acrocephalosyndactyly type I	NC_000010.11:g.121520160_121520162delinsAAG	ClinVar
FGFR2	P21802	p.His254Tyr	COSM5896063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121520158G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg255Trp	rs149200230	missense variant	-	NC_000010.11:g.121520155G>A	ESP,ExAC,gnomAD
FGFR2	P21802	p.Pro256Ser	rs1364891245	missense variant	-	NC_000010.11:g.121520152G>A	gnomAD
FGFR2	P21802	p.Leu258Phe	rs747171741	missense variant	-	NC_000010.11:g.121520146G>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Leu262Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121520133A>G	NCI-TCGA
FGFR2	P21802	p.Pro263Leu	rs779326224	missense variant	-	NC_000010.11:g.121520130G>A	ExAC,gnomAD
FGFR2	P21802	p.Ala264Thr	COSM3434781	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121520128C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Ala266Ser	rs1375799439	missense variant	-	NC_000010.11:g.121520122C>A	gnomAD
FGFR2	P21802	p.Ser267Pro	rs121918505	missense variant	-	NC_000010.11:g.121520119A>G	-
FGFR2	P21802	p.Ser267Pro	rs121918505	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520119A>G	UniProt,dbSNP
FGFR2	P21802	p.Ser267Pro	VAR_004118	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520119A>G	UniProt
FGFR2	P21802	p.Ser267Pro	RCV000690962	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121520119A>G	ClinVar
FGFR2	P21802	p.Ser267Pro	RCV000408850	missense variant	Crouzon syndrome	NC_000010.11:g.121520119A>G	ClinVar
FGFR2	P21802	p.Ser267Pro	RCV000435703	missense variant	-	NC_000010.11:g.121520119A>G	ClinVar
FGFR2	P21802	p.Ser267IleSer	NCI-TCGA novel	insertion	-	NC_000010.11:g.121520115_121520116insTGGAGA	NCI-TCGA
FGFR2	P21802	p.Ser267Pro	RCV000014213	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121520119A>G	ClinVar
FGFR2	P21802	p.Ser267Pro	RCV000014214	missense variant	Neoplasm of stomach	NC_000010.11:g.121520119A>G	ClinVar
FGFR2	P21802	p.Thr268insThrGly	VAR_004119	inframe_insertion	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Val269Ala	rs1424359588	missense variant	-	NC_000010.11:g.121520112A>G	gnomAD
FGFR2	P21802	p.Val269_Val270del	VAR_075856	inframe_deletion	Saethre-Chotzen syndrome (SCS) [MIM:101400]	-	UniProt
FGFR2	P21802	p.Gly271Arg	rs183250272	missense variant	-	NC_000010.11:g.121520107C>T	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Gly271Val	RCV000695392	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121520106C>A	ClinVar
FGFR2	P21802	p.Gly272ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.121520104_121520105insAAGTTTAGTAGTTCTTCCCCAAGTTTAGTAGT	NCI-TCGA
FGFR2	P21802	p.Gly272Val	VAR_042205	Missense	-	-	UniProt
FGFR2	P21802	p.Asp273Glu	rs140427785	missense variant	-	NC_000010.11:g.121520099G>C	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp273del	VAR_017262	inframe_deletion	Pfeiffer syndrome (PS) [MIM:101600]	-	UniProt
FGFR2	P21802	p.Val274Ile	rs1488169619	missense variant	-	NC_000010.11:g.121520098C>T	TOPMed,gnomAD
FGFR2	P21802	p.Val274Ile	rs1488169619	missense variant	-	NC_000010.11:g.121520098C>T	NCI-TCGA
FGFR2	P21802	p.Glu275Gln	rs1258584689	missense variant	-	NC_000010.11:g.121520095C>G	gnomAD
FGFR2	P21802	p.Glu275Gln	RCV000544775	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121520095C>G	ClinVar
FGFR2	P21802	p.Phe276Cys	COSM1743350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121520091A>C	NCI-TCGA Cosmic
FGFR2	P21802	p.Phe276Val	RCV000655413	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121520092A>C	ClinVar
FGFR2	P21802	p.Val277Ala	rs762937564	missense variant	-	NC_000010.11:g.121520088A>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Cys278Tyr	rs776587763	missense variant	-	NC_000010.11:g.121520085C>T	ExAC,gnomAD
FGFR2	P21802	p.Cys278Tyr	rs776587763	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520085C>T	UniProt,dbSNP
FGFR2	P21802	p.Cys278Tyr	VAR_017263	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520085C>T	UniProt
FGFR2	P21802	p.Cys278Leu	rs1057519037	missense variant	-	NC_000010.11:g.121520084_121520085delinsTA	-
FGFR2	P21802	p.Cys278Trp	rs1554930790	missense variant	-	NC_000010.11:g.121520084G>C	-
FGFR2	P21802	p.Cys278Phe	rs776587763	missense variant	-	NC_000010.11:g.121520085C>A	ExAC,gnomAD
FGFR2	P21802	p.Cys278Phe	rs776587763	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121520085C>A	UniProt,dbSNP
FGFR2	P21802	p.Cys278Phe	VAR_004121	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121520085C>A	UniProt
FGFR2	P21802	p.Cys278Phe	RCV000255197	missense variant	-	NC_000010.11:g.121520085C>A	ClinVar
FGFR2	P21802	p.Cys278Phe	RCV000557313	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121520085C>A	ClinVar
FGFR2	P21802	p.Cys278Phe	RCV000844883	missense variant	Crouzon syndrome	NC_000010.11:g.121520085C>A	ClinVar
FGFR2	P21802	p.Cys278Phe	RCV000415498	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121520085C>A	ClinVar
FGFR2	P21802	p.Cys278Trp	RCV000655420	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121520084G>C	ClinVar
FGFR2	P21802	p.Tyr281Cys	rs1057519038	missense variant	-	NC_000010.11:g.121520076T>C	-
FGFR2	P21802	p.Tyr281Cys	RCV000415488	missense variant	Crouzon syndrome	NC_000010.11:g.121520076T>C	ClinVar
FGFR2	P21802	p.Asp283Asn	VAR_042206	Missense	-	-	UniProt
FGFR2	P21802	p.Pro286Ser	rs778094013	missense variant	-	NC_000010.11:g.121520062G>A	ExAC,gnomAD
FGFR2	P21802	p.His287Tyr	rs1461081253	missense variant	-	NC_000010.11:g.121520059G>A	TOPMed
FGFR2	P21802	p.His287_Gln289del	VAR_004122	inframe_deletion	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Ile288Val	rs1217568539	missense variant	-	NC_000010.11:g.121520056T>C	gnomAD
FGFR2	P21802	p.Ile288Ser	VAR_017265	Missense	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Gln289Pro	rs121918497	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121520052T>G	UniProt,dbSNP
FGFR2	P21802	p.Gln289Pro	VAR_004123	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121520052T>G	UniProt
FGFR2	P21802	p.Gln289Pro	rs121918497	missense variant	Jackson-weiss syndrome (jws)	NC_000010.11:g.121520052T>G	-
FGFR2	P21802	p.Gln289Pro	RCV000014197	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121520052T>G	ClinVar
FGFR2	P21802	p.Gln289Pro	RCV000014196	missense variant	Crouzon syndrome	NC_000010.11:g.121520052T>G	ClinVar
FGFR2	P21802	p.Gln289Pro	RCV000415509	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121520052T>G	ClinVar
FGFR2	P21802	p.Trp290Cys	rs121918499	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121520048C>A	UniProt,dbSNP
FGFR2	P21802	p.Trp290Cys	VAR_004124	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121520048C>A	UniProt
FGFR2	P21802	p.Trp290Ser	rs1057519039	missense variant	-	NC_000010.11:g.121520049C>G	-
FGFR2	P21802	p.Trp290Arg	rs121918501	missense variant	-	NC_000010.11:g.121520050A>G	-
FGFR2	P21802	p.Trp290Arg	rs121918501	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520050A>G	UniProt,dbSNP
FGFR2	P21802	p.Trp290Arg	VAR_004125	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520050A>G	UniProt
FGFR2	P21802	p.Trp290Gly	RCV000014206	missense variant	Crouzon syndrome	NC_000010.11:g.121520050A>C	ClinVar
FGFR2	P21802	p.Trp290Cys	RCV000655418	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121520048C>A	ClinVar
FGFR2	P21802	p.Trp290Cys	RCV000419759	missense variant	Squamous cell lung carcinoma	NC_000010.11:g.121520048C>G	ClinVar
FGFR2	P21802	p.Trp290Arg	RCV000014205	missense variant	Crouzon syndrome	NC_000010.11:g.121520050A>G	ClinVar
FGFR2	P21802	p.Trp290Arg	RCV000537718	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121520050A>G	ClinVar
FGFR2	P21802	p.Trp290Gly	rs121918501	missense variant	-	NC_000010.11:g.121520050A>C	-
FGFR2	P21802	p.Trp290Gly	rs121918501	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520050A>C	UniProt,dbSNP
FGFR2	P21802	p.Trp290Gly	VAR_017266	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520050A>C	UniProt
FGFR2	P21802	p.Trp290Cys	RCV000014218	missense variant	Craniofacial-skeletal-dermatologic dysplasia	NC_000010.11:g.121520048C>A	ClinVar
FGFR2	P21802	p.Trp290Cys	RCV000014217	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121520048C>A	ClinVar
FGFR2	P21802	p.Trp290Ser	RCV000415506	missense variant	Crouzon syndrome	NC_000010.11:g.121520049C>G	ClinVar
FGFR2	P21802	p.Trp290Cys	rs121918499	missense variant	-	NC_000010.11:g.121520048C>G	NCI-TCGA,NCI-TCGA Cosmic
FGFR2	P21802	p.Lys292Glu	rs121918500	missense variant	-	NC_000010.11:g.121520044T>C	-
FGFR2	P21802	p.Lys292Glu	rs121918500	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520044T>C	UniProt,dbSNP
FGFR2	P21802	p.Lys292Glu	VAR_004126	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520044T>C	UniProt
FGFR2	P21802	p.Lys292Glu	RCV000014204	missense variant	Crouzon syndrome	NC_000010.11:g.121520044T>C	ClinVar
FGFR2	P21802	p.His293Tyr	rs748526473	missense variant	-	NC_000010.11:g.121520041G>A	ExAC,TOPMed
FGFR2	P21802	p.Val294Met	rs755453106	missense variant	-	NC_000010.11:g.121520038C>T	ExAC,gnomAD
FGFR2	P21802	p.Lys296Asn	COSM3367926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121520030C>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Gly298Ser	rs779566502	missense variant	-	NC_000010.11:g.121520026C>T	ExAC,gnomAD
FGFR2	P21802	p.Gly298Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121520025C>T	NCI-TCGA
FGFR2	P21802	p.Ser299Thr	rs1329431721	missense variant	-	NC_000010.11:g.121520022C>G	gnomAD
FGFR2	P21802	p.Lys300Arg	rs755570604	missense variant	-	NC_000010.11:g.121520019T>C	ExAC,gnomAD
FGFR2	P21802	p.Tyr301Cys	rs1554930684	missense variant	-	NC_000010.11:g.121520016T>C	-
FGFR2	P21802	p.Tyr301Cys	rs1554930684	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520016T>C	UniProt,dbSNP
FGFR2	P21802	p.Tyr301Cys	VAR_004127	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121520016T>C	UniProt
FGFR2	P21802	p.Tyr301Cys	RCV000545665	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121520016T>C	ClinVar
FGFR2	P21802	p.Gly302Arg	rs1159063118	missense variant	-	NC_000010.11:g.121520014C>T	TOPMed,gnomAD
FGFR2	P21802	p.Pro303Arg	rs374608214	missense variant	-	NC_000010.11:g.121520010G>C	ESP,TOPMed,gnomAD
FGFR2	P21802	p.Asp304Asn	rs370877537	missense variant	-	NC_000010.11:g.121520008C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Tyr308Cys	rs1057519040	missense variant	-	NC_000010.11:g.121519995T>C	-
FGFR2	P21802	p.Tyr308Cys	RCV000415502	missense variant	Crouzon syndrome	NC_000010.11:g.121519995T>C	ClinVar
FGFR2	P21802	p.Lys310Arg	rs121913475	missense variant	-	NC_000010.11:g.121519989T>C	-
FGFR2	P21802	p.Lys310Arg	RCV000438031	missense variant	Endometrial neoplasm	NC_000010.11:g.121519989T>C	ClinVar
FGFR2	P21802	p.Val311Ile	rs771158421	missense variant	-	NC_000010.11:g.121519987C>T	ExAC,gnomAD
FGFR2	P21802	p.Val311Ile	rs771158421	missense variant	-	NC_000010.11:g.121519987C>T	NCI-TCGA,NCI-TCGA Cosmic
FGFR2	P21802	p.Ala314Thr	rs1358919643	missense variant	-	NC_000010.11:g.121517463C>T	gnomAD
FGFR2	P21802	p.Ala314Ser	RCV000534665	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517463C>A	ClinVar
FGFR2	P21802	p.Ala314Ser	rs1358919643	missense variant	-	NC_000010.11:g.121517463C>A	gnomAD
FGFR2	P21802	p.Ala314Ser	VAR_004128	Missense	-	-	UniProt
FGFR2	P21802	p.Ala315Thr	rs121918504	missense variant	-	NC_000010.11:g.121517460C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala315Ser	rs121918504	missense variant	-	NC_000010.11:g.121517460C>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala315Ser	rs121918504	missense variant	-	NC_000010.11:g.121517460C>A	UniProt,dbSNP
FGFR2	P21802	p.Ala315Ser	VAR_017267	missense variant	-	NC_000010.11:g.121517460C>A	UniProt
FGFR2	P21802	p.Ala315Ser	RCV000014212	missense variant	Craniosynostosis, nonsyndromic unicoronal	NC_000010.11:g.121517460C>A	ClinVar
FGFR2	P21802	p.Gly316Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121517456C>T	NCI-TCGA
FGFR2	P21802	p.Thr320Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121517444G>A	NCI-TCGA
FGFR2	P21802	p.Asp321Ala	rs121918510	missense variant	-	NC_000010.11:g.121517441T>G	-
FGFR2	P21802	p.Asp321Ala	rs121918510	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517441T>G	UniProt,dbSNP
FGFR2	P21802	p.Asp321Ala	VAR_004129	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517441T>G	UniProt
FGFR2	P21802	p.Asp321Glu	rs1318903454	missense variant	-	NC_000010.11:g.121517440G>T	TOPMed
FGFR2	P21802	p.Asp321Ala	RCV000014227	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121517441T>G	ClinVar
FGFR2	P21802	p.Lys322Thr	rs371141402	missense variant	-	NC_000010.11:g.121517438T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Lys322Arg	rs371141402	missense variant	-	NC_000010.11:g.121517438T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ile324Val	rs1443966407	missense variant	-	NC_000010.11:g.121517433T>C	TOPMed,gnomAD
FGFR2	P21802	p.Ile324Val	RCV000655424	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517433T>C	ClinVar
FGFR2	P21802	p.Val326Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121517426A>G	NCI-TCGA
FGFR2	P21802	p.Tyr328Cys	RCV000798719	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517420T>C	ClinVar
FGFR2	P21802	p.Tyr328Cys	RCV000014189	missense variant	Crouzon syndrome	NC_000010.11:g.121517420T>C	ClinVar
FGFR2	P21802	p.Tyr328Cys	rs121918493	missense variant	-	NC_000010.11:g.121517420T>C	-
FGFR2	P21802	p.Tyr328Cys	rs121918493	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517420T>C	UniProt,dbSNP
FGFR2	P21802	p.Tyr328Cys	VAR_004130	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517420T>C	UniProt
FGFR2	P21802	p.Arg330Trp	rs200204947	missense variant	-	NC_000010.11:g.121517415G>A	ESP,TOPMed,gnomAD
FGFR2	P21802	p.Arg330Gln	rs199757302	missense variant	-	NC_000010.11:g.121517414C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg330Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121517414C>A	NCI-TCGA
FGFR2	P21802	p.Asn331Ile	VAR_004131	Missense	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Phe334Tyr	rs372612885	missense variant	-	NC_000010.11:g.121517402A>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu335Asp	COSM4012190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121517398C>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Asp336Gly	rs1057519042	missense variant	-	NC_000010.11:g.121517396T>C	-
FGFR2	P21802	p.Asp336Gly	RCV000415483	missense variant	Crouzon syndrome	NC_000010.11:g.121517396T>C	ClinVar
FGFR2	P21802	p.Ala337Thr	rs387906676	missense variant	-	NC_000010.11:g.121517394C>T	-
FGFR2	P21802	p.Ala337Pro	rs387906676	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517394C>G	UniProt,dbSNP
FGFR2	P21802	p.Ala337Pro	VAR_017268	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517394C>G	UniProt
FGFR2	P21802	p.Ala337Thr	RCV000022733	missense variant	Variant of unknown significance	NC_000010.11:g.121517394C>T	ClinVar
FGFR2	P21802	p.Ala337Pro	RCV000022732	missense variant	Crouzon syndrome	NC_000010.11:g.121517394C>G	ClinVar
FGFR2	P21802	p.Ala337insAlaAsnAla	VAR_004132	inframe_insertion	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Gly338Lys	rs1554928905	missense variant	-	NC_000010.11:g.121517390_121517391delinsTT	-
FGFR2	P21802	p.Gly338Glu	rs1057519044	missense variant	-	NC_000010.11:g.121517390C>T	-
FGFR2	P21802	p.Gly338IlePheSerTerUnkUnk	COSM1346275	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.121517385_121517391ATTCCCC>-	NCI-TCGA Cosmic
FGFR2	P21802	p.Gly338Arg	RCV000415494	missense variant	Crouzon syndrome	NC_000010.11:g.121517391C>G	ClinVar
FGFR2	P21802	p.Gly338Lys	RCV000558696	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517390_121517391delinsTT	ClinVar
FGFR2	P21802	p.Gly338Trp	RCV000655417	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517391C>A	ClinVar
FGFR2	P21802	p.Gly338Glu	RCV000762802	missense variant	Acrocephalosyndactyly type I	NC_000010.11:g.121517390C>T	ClinVar
FGFR2	P21802	p.Tyr340His	rs121918489	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517385A>G	UniProt,dbSNP
FGFR2	P21802	p.Tyr340His	VAR_004134	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517385A>G	UniProt
FGFR2	P21802	p.Tyr340His	rs121918489	missense variant	-	NC_000010.11:g.121517385A>G	-
FGFR2	P21802	p.Tyr340Cys	rs1554928884	missense variant	-	NC_000010.11:g.121517384T>C	-
FGFR2	P21802	p.Tyr340Cys	rs1554928884	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517384T>C	UniProt,dbSNP
FGFR2	P21802	p.Tyr340Cys	VAR_017269	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517384T>C	UniProt
FGFR2	P21802	p.Tyr340His	RCV000014175	missense variant	Crouzon syndrome	NC_000010.11:g.121517385A>G	ClinVar
FGFR2	P21802	p.Tyr340Cys	RCV000523700	missense variant	-	NC_000010.11:g.121517384T>C	ClinVar
FGFR2	P21802	p.Thr341Pro	RCV000014194	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121517382T>G	ClinVar
FGFR2	P21802	p.Thr341Pro	rs121918495	missense variant	-	NC_000010.11:g.121517382T>G	-
FGFR2	P21802	p.Thr341Pro	rs121918495	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517382T>G	UniProt,dbSNP
FGFR2	P21802	p.Thr341Pro	VAR_004135	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517382T>G	UniProt
FGFR2	P21802	p.Cys342Arg	rs121918488	missense variant	Jackson-weiss syndrome (jws)	NC_000010.11:g.121517379A>G	-
FGFR2	P21802	p.Cys342Arg	rs121918488	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517379A>G	UniProt,dbSNP
FGFR2	P21802	p.Cys342Arg	VAR_004137	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517379A>G	UniProt
FGFR2	P21802	p.Cys342Tyr	rs121918487	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517378C>T	UniProt,dbSNP
FGFR2	P21802	p.Cys342Tyr	VAR_004139	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517378C>T	UniProt
FGFR2	P21802	p.Cys342Tyr	rs121918487	missense variant	-	NC_000010.11:g.121517378C>T	-
FGFR2	P21802	p.Cys342Ser	rs121918487	missense variant	-	NC_000010.11:g.121517378C>G	-
FGFR2	P21802	p.Cys342Ser	rs121918488	missense variant	Jackson-weiss syndrome (jws)	NC_000010.11:g.121517379A>T	-
FGFR2	P21802	p.Cys342Ser	rs121918488	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121517379A>T	UniProt,dbSNP
FGFR2	P21802	p.Cys342Ser	VAR_004138	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121517379A>T	UniProt
FGFR2	P21802	p.Cys342Phe	rs121918487	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517378C>A	UniProt,dbSNP
FGFR2	P21802	p.Cys342Phe	VAR_004136	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517378C>A	UniProt
FGFR2	P21802	p.Cys342Phe	rs121918487	missense variant	-	NC_000010.11:g.121517378C>A	-
FGFR2	P21802	p.Cys342Gly	rs121918488	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517379A>C	UniProt,dbSNP
FGFR2	P21802	p.Cys342Gly	VAR_017270	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121517379A>C	UniProt
FGFR2	P21802	p.Cys342Gly	rs121918488	missense variant	Jackson-weiss syndrome (jws)	NC_000010.11:g.121517379A>C	-
FGFR2	P21802	p.Cys342Ser	RCV000490034	missense variant	-	NC_000010.11:g.121517379A>T	ClinVar
FGFR2	P21802	p.Cys342Ser	RCV000014183	missense variant	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2)	NC_000010.11:g.121517379A>T	ClinVar
FGFR2	P21802	p.Cys342Tyr	RCV000014174	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121517378C>T	ClinVar
FGFR2	P21802	p.Cys342Tyr	RCV000547490	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517378C>T	ClinVar
FGFR2	P21802	p.Cys342Tyr	RCV000014173	missense variant	Crouzon syndrome	NC_000010.11:g.121517378C>T	ClinVar
FGFR2	P21802	p.Cys342Tyr	RCV000762801	missense variant	Acrocephalosyndactyly type I	NC_000010.11:g.121517378C>T	ClinVar
FGFR2	P21802	p.Cys342Ser	RCV000415499	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121517378C>G	ClinVar
FGFR2	P21802	p.Cys342Trp	rs121918496	missense variant	-	NC_000010.11:g.121517377G>C	-
FGFR2	P21802	p.Cys342Trp	rs121918496	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517377G>C	UniProt,dbSNP
FGFR2	P21802	p.Cys342Trp	VAR_017271	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517377G>C	UniProt
FGFR2	P21802	p.Cys342Trp	RCV000535651	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517377G>C	ClinVar
FGFR2	P21802	p.Cys342Arg	RCV000014179	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121517379A>G	ClinVar
FGFR2	P21802	p.Cys342Ser	RCV000655416	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517379A>T	ClinVar
FGFR2	P21802	p.Cys342Ser	RCV000014181	missense variant	Crouzon syndrome	NC_000010.11:g.121517379A>T	ClinVar
FGFR2	P21802	p.Cys342Phe	RCV000415490	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121517378C>A	ClinVar
FGFR2	P21802	p.Cys342Gly	RCV000415501	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121517379A>C	ClinVar
FGFR2	P21802	p.Cys342Ser	RCV000415484	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121517379A>T	ClinVar
FGFR2	P21802	p.Cys342Phe	RCV000815502	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517378C>A	ClinVar
FGFR2	P21802	p.Cys342Arg	RCV000534888	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517379A>G	ClinVar
FGFR2	P21802	p.Cys342Trp	RCV000014195	missense variant	Crouzon syndrome	NC_000010.11:g.121517377G>C	ClinVar
FGFR2	P21802	p.Cys342Ser	RCV000014182	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121517379A>T	ClinVar
FGFR2	P21802	p.Cys342Arg	RCV000014180	missense variant	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2)	NC_000010.11:g.121517379A>G	ClinVar
FGFR2	P21802	p.Cys342Ser	RCV000560038	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517378C>G	ClinVar
FGFR2	P21802	p.Cys342Arg	RCV000014178	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121517379A>G	ClinVar
FGFR2	P21802	p.Cys342Arg	RCV000014177	missense variant	Crouzon syndrome	NC_000010.11:g.121517379A>G	ClinVar
FGFR2	P21802	p.Ala344Gly	rs121918492	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517372G>C	UniProt,dbSNP
FGFR2	P21802	p.Ala344Gly	VAR_004140	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517372G>C	UniProt
FGFR2	P21802	p.Ala344Gly	rs121918492	missense variant	Jackson-weiss syndrome (jws)	NC_000010.11:g.121517372G>C	-
FGFR2	P21802	p.Ala344Gly	RCV000014187	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121517372G>C	ClinVar
FGFR2	P21802	p.Ala344Gly	RCV000014188	missense variant	Crouzon syndrome	NC_000010.11:g.121517372G>C	ClinVar
FGFR2	P21802	p.Ala344Ser	COSM4925043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121517373C>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Ala344Pro	VAR_004141	Missense	Pfeiffer syndrome (PS) [MIM:101600]	-	UniProt
FGFR2	P21802	p.Ala344Pro	VAR_004141	Missense	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Gly345Asp	rs1554928838	missense variant	-	NC_000010.11:g.121517369C>T	-
FGFR2	P21802	p.Gly345Ser	COSM1346274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121517370C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Gly345Asp	RCV000548281	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517369C>T	ClinVar
FGFR2	P21802	p.Ser347Cys	rs121918494	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517363G>C	UniProt,dbSNP
FGFR2	P21802	p.Ser347Cys	VAR_004142	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517363G>C	UniProt
FGFR2	P21802	p.Ser347Cys	RCV000626619	missense variant	Hypertelorism	NC_000010.11:g.121517363G>C	ClinVar
FGFR2	P21802	p.Ser351Cys	rs121918502	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517351G>C	UniProt,dbSNP
FGFR2	P21802	p.Ser351Cys	VAR_004143	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517351G>C	UniProt
FGFR2	P21802	p.Ser351Cys	rs121918502	missense variant	-	NC_000010.11:g.121517351G>C	-
FGFR2	P21802	p.Ser351Cys	RCV000256107	missense variant	-	NC_000010.11:g.121517351G>C	ClinVar
FGFR2	P21802	p.Ser351Cys	RCV000528973	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517351G>C	ClinVar
FGFR2	P21802	p.Ser351Cys	RCV000014208	missense variant	Pfeiffer syndrome, type III	NC_000010.11:g.121517351G>C	ClinVar
FGFR2	P21802	p.Ser351Cys	RCV000014209	missense variant	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2)	NC_000010.11:g.121517351G>C	ClinVar
FGFR2	P21802	p.Ser351Cys	RCV000415503	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121517351G>C	ClinVar
FGFR2	P21802	p.His353Arg	rs1354809777	missense variant	-	NC_000010.11:g.121517345T>C	gnomAD
FGFR2	P21802	p.Ser354Cys	rs121918490	missense variant	-	NC_000010.11:g.121517342G>C	-
FGFR2	P21802	p.Ser354Cys	rs121918490	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517342G>C	UniProt,dbSNP
FGFR2	P21802	p.Ser354Cys	VAR_004144	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121517342G>C	UniProt
FGFR2	P21802	p.Ser354Cys	RCV000014176	missense variant	Crouzon syndrome	NC_000010.11:g.121517342G>C	ClinVar
FGFR2	P21802	p.Ser354Cys	RCV000655419	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121517342G>C	ClinVar
FGFR2	P21802	p.Ser354Cys	RCV000623131	missense variant	Inborn genetic diseases	NC_000010.11:g.121517342G>C	ClinVar
FGFR2	P21802	p.Ser354Tyr	VAR_017272	Missense	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Ala355Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121517339G>A	NCI-TCGA
FGFR2	P21802	p.Trp356_Thr358del	VAR_004145	inframe_deletion	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Val359Ile	rs1274989878	missense variant	-	NC_000010.11:g.121517328C>T	gnomAD
FGFR2	P21802	p.Val359Phe	VAR_004146	Missense	Pfeiffer syndrome (PS) [MIM:101600]	-	UniProt
FGFR2	P21802	p.Val359Phe	VAR_004146	Missense	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Leu360Val	rs1437948804	missense variant	-	NC_000010.11:g.121517325G>C	gnomAD
FGFR2	P21802	p.Pro361Ser	rs1322410924	missense variant	-	NC_000010.11:g.121517322G>A	gnomAD
FGFR2	P21802	p.Ala362Val	rs757846343	missense variant	-	NC_000010.11:g.121515319G>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala362Ser	VAR_017273	Missense	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Gly364Glu	COSM2056264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121515313C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Glu366Lys	rs762423026	missense variant	-	NC_000010.11:g.121515308C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu366Gly	rs752220358	missense variant	-	NC_000010.11:g.121515307T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu366Gln	COSM3806605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121515308C>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Lys367Glu	rs775136828	missense variant	-	NC_000010.11:g.121515305T>C	ExAC,gnomAD
FGFR2	P21802	p.Glu368Val	rs143645832	missense variant	-	NC_000010.11:g.121515301T>A	ESP,TOPMed,gnomAD
FGFR2	P21802	p.Glu368Lys	rs1434819678	missense variant	-	NC_000010.11:g.121515302C>T	TOPMed
FGFR2	P21802	p.Thr370Lys	COSM4012185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121515295G>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Thr370Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121515295G>A	NCI-TCGA
FGFR2	P21802	p.Thr370Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121515296T>C	NCI-TCGA
FGFR2	P21802	p.Ser372Cys	rs121913477	missense variant	-	NC_000010.11:g.121515289G>C	TOPMed
FGFR2	P21802	p.Ser372Tyr	rs121913477	missense variant	-	NC_000010.11:g.121515289G>T	TOPMed
FGFR2	P21802	p.Ser372Cys	rs121913477	missense variant	Beare-Stevenson cutis gyrata syndrome (BSTVS)	NC_000010.11:g.121515289G>C	UniProt,dbSNP
FGFR2	P21802	p.Ser372Cys	VAR_017274	missense variant	Beare-Stevenson cutis gyrata syndrome (BSTVS)	NC_000010.11:g.121515289G>C	UniProt
FGFR2	P21802	p.Ser372Cys	RCV000014200	missense variant	Cutis Gyrata syndrome of Beare and Stevenson (BSTVS)	NC_000010.11:g.121515289G>C	ClinVar
FGFR2	P21802	p.Pro373Ser	rs1458741036	missense variant	-	NC_000010.11:g.121515287G>A	TOPMed,gnomAD
FGFR2	P21802	p.Asp374Gly	rs1057520028	missense variant	-	NC_000010.11:g.121515283T>C	-
FGFR2	P21802	p.Asp374Asn	rs776413718	missense variant	-	NC_000010.11:g.121515284C>T	ExAC,gnomAD
FGFR2	P21802	p.Asp374Gly	RCV000423432	missense variant	Endometrial neoplasm	NC_000010.11:g.121515283T>C	ClinVar
FGFR2	P21802	p.Tyr375Cys	rs121913478	missense variant	Beare-Stevenson cutis gyrata syndrome (BSTVS)	NC_000010.11:g.121515280T>C	UniProt,dbSNP
FGFR2	P21802	p.Tyr375Cys	VAR_017275	missense variant	Beare-Stevenson cutis gyrata syndrome (BSTVS)	NC_000010.11:g.121515280T>C	UniProt
FGFR2	P21802	p.Tyr375Cys	RCV000441051	missense variant	Endometrial neoplasm	NC_000010.11:g.121515280T>C	ClinVar
FGFR2	P21802	p.Glu377Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121515273C>A	NCI-TCGA
FGFR2	P21802	p.Tyr381Cys	rs1064796452	missense variant	-	NC_000010.11:g.121515262T>C	-
FGFR2	P21802	p.Tyr381Asp	rs387906678	missense variant	Bent bone dysplasia syndrome (BBDS)	NC_000010.11:g.121515263A>C	UniProt,dbSNP
FGFR2	P21802	p.Tyr381Asp	VAR_067977	missense variant	Bent bone dysplasia syndrome (BBDS)	NC_000010.11:g.121515263A>C	UniProt
FGFR2	P21802	p.Tyr381Cys	RCV000482209	missense variant	-	NC_000010.11:g.121515262T>C	ClinVar
FGFR2	P21802	p.Tyr381Asp	RCV000190765	missense variant	Inborn genetic diseases	NC_000010.11:g.121515263A>C	ClinVar
FGFR2	P21802	p.Tyr381His	RCV000424046	missense variant	Carcinoma of esophagus	NC_000010.11:g.121515263A>G	ClinVar
FGFR2	P21802	p.Tyr381His	RCV000441347	missense variant	Adenocarcinoma of stomach	NC_000010.11:g.121515263A>G	ClinVar
FGFR2	P21802	p.Tyr381Asp	RCV000022735	missense variant	Bent bone dysplasia syndrome (BBDS)	NC_000010.11:g.121515263A>C	ClinVar
FGFR2	P21802	p.Tyr381Asp	RCV000725446	missense variant	-	NC_000010.11:g.121515263A>C	ClinVar
FGFR2	P21802	p.Tyr381His	RCV000427294	missense variant	Endometrial neoplasm	NC_000010.11:g.121515263A>G	ClinVar
FGFR2	P21802	p.Tyr381His	RCV000430563	missense variant	Malignant neoplasm of body of uterus	NC_000010.11:g.121515263A>G	ClinVar
FGFR2	P21802	p.Cys382Arg	RCV000585739	missense variant	Adenoid cystic carcinoma	NC_000010.11:g.121515260A>G	ClinVar
FGFR2	P21802	p.Cys382Tyr	rs1057519900	missense variant	-	NC_000010.11:g.121515259C>T	-
FGFR2	P21802	p.Cys382Tyr	RCV000434751	missense variant	Malignant neoplasm of body of uterus	NC_000010.11:g.121515259C>T	ClinVar
FGFR2	P21802	p.Cys382Tyr	RCV000421261	missense variant	Carcinoma of esophagus	NC_000010.11:g.121515259C>T	ClinVar
FGFR2	P21802	p.Cys382Tyr	RCV000438442	missense variant	Adenocarcinoma of stomach	NC_000010.11:g.121515259C>T	ClinVar
FGFR2	P21802	p.Ile383Thr	rs773178450	missense variant	-	NC_000010.11:g.121515256A>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Gly384Arg	rs1554927408	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121515254C>T	UniProt,dbSNP
FGFR2	P21802	p.Gly384Arg	VAR_004147	missense variant	Crouzon syndrome (CS)	NC_000010.11:g.121515254C>T	UniProt
FGFR2	P21802	p.Gly384Arg	rs1554927408	missense variant	-	NC_000010.11:g.121515254C>T	-
FGFR2	P21802	p.Gly384Ala	rs1291834042	missense variant	-	NC_000010.11:g.121515253C>G	gnomAD
FGFR2	P21802	p.Gly384Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121515254C>G	NCI-TCGA
FGFR2	P21802	p.Gly384Arg	RCV000762798	missense variant	Acrocephalosyndactyly type I	NC_000010.11:g.121515254C>T	ClinVar
FGFR2	P21802	p.Gly384Arg	RCV000525216	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121515254C>T	ClinVar
FGFR2	P21802	p.Phe386Val	rs780167791	missense variant	-	NC_000010.11:g.121515248A>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ile388Val	rs769919776	missense variant	-	NC_000010.11:g.121515242T>C	ExAC,gnomAD
FGFR2	P21802	p.Ala389Ser	rs781714766	missense variant	-	NC_000010.11:g.121515239C>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala389Val	rs1329578117	missense variant	-	NC_000010.11:g.121515238G>A	gnomAD
FGFR2	P21802	p.Ala389Thr	rs781714766	missense variant	-	NC_000010.11:g.121515239C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met391Val	rs751951199	missense variant	-	NC_000010.11:g.121515233T>C	ExAC,gnomAD
FGFR2	P21802	p.Met391Arg	rs387906677	missense variant	Bent bone dysplasia syndrome (bbds)	NC_000010.11:g.121515232A>C	-
FGFR2	P21802	p.Met391Arg	rs387906677	missense variant	Bent bone dysplasia syndrome (BBDS)	NC_000010.11:g.121515232A>C	UniProt,dbSNP
FGFR2	P21802	p.Met391Arg	VAR_067978	missense variant	Bent bone dysplasia syndrome (BBDS)	NC_000010.11:g.121515232A>C	UniProt
FGFR2	P21802	p.Met391Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121515231C>A	NCI-TCGA
FGFR2	P21802	p.Met391Arg	RCV000022734	missense variant	Bent bone dysplasia syndrome (BBDS)	NC_000010.11:g.121515232A>C	ClinVar
FGFR2	P21802	p.Met391Arg	RCV000493423	missense variant	-	NC_000010.11:g.121515232A>C	ClinVar
FGFR2	P21802	p.Val392Ala	COSM3721811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121515229A>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Thr394Ala	rs1022488982	missense variant	-	NC_000010.11:g.121515224T>C	TOPMed,gnomAD
FGFR2	P21802	p.Thr394Ile	rs971411400	missense variant	-	NC_000010.11:g.121515223G>A	gnomAD
FGFR2	P21802	p.Val395Asp	COSM5967160	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121515220A>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg399Ter	rs1441011501	stop gained	-	NC_000010.11:g.121515209G>A	gnomAD
FGFR2	P21802	p.Arg399Gln	rs1219597593	missense variant	-	NC_000010.11:g.121515208C>T	TOPMed,gnomAD
FGFR2	P21802	p.Met400Lys	rs752209605	missense variant	-	NC_000010.11:g.121515205A>T	ExAC,gnomAD
FGFR2	P21802	p.Asn402Ser	rs764748528	missense variant	-	NC_000010.11:g.121515199T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asn402Ser	RCV000376970	missense variant	-	NC_000010.11:g.121515199T>C	ClinVar
FGFR2	P21802	p.Thr403Lys	rs753437208	missense variant	-	NC_000010.11:g.121515196G>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Thr403Met	rs753437208	missense variant	-	NC_000010.11:g.121515196G>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Thr404Ile	rs1003638950	missense variant	-	NC_000010.11:g.121515193G>A	TOPMed,gnomAD
FGFR2	P21802	p.Lys405Glu	rs772986332	missense variant	-	NC_000010.11:g.121515191T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Lys405Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121515189C>A	NCI-TCGA
FGFR2	P21802	p.Lys405SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.121515192_121515193insGAAGCTCACAGAA	NCI-TCGA
FGFR2	P21802	p.Asp408Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121515181T>C	NCI-TCGA
FGFR2	P21802	p.Ser410Gly	rs1242158155	missense variant	-	NC_000010.11:g.121515176T>C	TOPMed,gnomAD
FGFR2	P21802	p.Pro413Leu	rs372348666	missense variant	-	NC_000010.11:g.121515166G>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala414Thr	rs769880096	missense variant	-	NC_000010.11:g.121515164C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala414GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.121515163_121515164insC	NCI-TCGA
FGFR2	P21802	p.Val415Ala	rs1295460269	missense variant	-	NC_000010.11:g.121515160A>G	gnomAD
FGFR2	P21802	p.Lys417Arg	rs1355130739	missense variant	-	NC_000010.11:g.121515154T>C	TOPMed
FGFR2	P21802	p.Lys420Ile	COSM6064901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121515145T>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Lys420Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.121515146T>A	NCI-TCGA
FGFR2	P21802	p.Arg421His	rs1422125612	missense variant	-	NC_000010.11:g.121515142C>T	gnomAD
FGFR2	P21802	p.Ile422Met	rs747449724	missense variant	-	NC_000010.11:g.121515138G>C	ExAC,gnomAD
FGFR2	P21802	p.Pro423Leu	rs1291747099	missense variant	-	NC_000010.11:g.121515136G>A	TOPMed
FGFR2	P21802	p.Pro423Ser	rs1207716999	missense variant	-	NC_000010.11:g.121515137G>A	TOPMed
FGFR2	P21802	p.Arg425Gln	rs998662110	missense variant	-	NC_000010.11:g.121515130C>T	TOPMed,gnomAD
FGFR2	P21802	p.Ser431Leu	rs1483629749	missense variant	-	NC_000010.11:g.121503937G>A	gnomAD
FGFR2	P21802	p.Glu433Asp	rs1045429276	missense variant	-	NC_000010.11:g.121503930C>G	TOPMed
FGFR2	P21802	p.Ser435Gly	rs146589618	missense variant	-	NC_000010.11:g.121503926T>C	ESP,ExAC,gnomAD
FGFR2	P21802	p.Met438Thr	rs1346945144	missense variant	-	NC_000010.11:g.121503916A>G	gnomAD
FGFR2	P21802	p.Asn439Ser	rs916042003	missense variant	-	NC_000010.11:g.121503913T>C	TOPMed
FGFR2	P21802	p.Asn439Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121503914T>A	NCI-TCGA
FGFR2	P21802	p.Ser440Phe	COSM3434762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121503910G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Asn441His	rs1324981459	missense variant	-	NC_000010.11:g.121503908T>G	gnomAD
FGFR2	P21802	p.Thr442Asn	rs368002690	missense variant	-	NC_000010.11:g.121503904G>T	ESP,ExAC,gnomAD
FGFR2	P21802	p.Pro443Leu	rs757125418	missense variant	-	NC_000010.11:g.121503901G>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Pro443Ala	rs7078073	missense variant	-	NC_000010.11:g.121503902G>C	TOPMed,gnomAD
FGFR2	P21802	p.Pro443Arg	rs757125418	missense variant	-	NC_000010.11:g.121503901G>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Val445Met	rs776868501	missense variant	-	NC_000010.11:g.121503896C>T	ExAC,gnomAD
FGFR2	P21802	p.Arg446Gly	rs1372232738	missense variant	-	NC_000010.11:g.121503893T>C	gnomAD
FGFR2	P21802	p.Arg446Ser	COSM3414755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121503891C>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Ile447Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121503888T>C	NCI-TCGA
FGFR2	P21802	p.Thr448Ala	rs1187984599	missense variant	-	NC_000010.11:g.121503887T>C	TOPMed,gnomAD
FGFR2	P21802	p.Thr449Ala	rs761012674	missense variant	-	NC_000010.11:g.121503884T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg450Cys	rs536181987	missense variant	-	NC_000010.11:g.121503881G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg450His	rs773245022	missense variant	-	NC_000010.11:g.121503880C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg450Leu	rs773245022	missense variant	-	NC_000010.11:g.121503880C>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Thr454Met	rs148672240	missense variant	-	NC_000010.11:g.121503868G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala455Thr	rs1251168391	missense variant	-	NC_000010.11:g.121503866C>T	gnomAD
FGFR2	P21802	p.Thr457Asn	rs1245946700	missense variant	-	NC_000010.11:g.121503859G>T	TOPMed,gnomAD
FGFR2	P21802	p.Pro458Ala	rs1265366960	missense variant	-	NC_000010.11:g.121503857G>C	TOPMed
FGFR2	P21802	p.Met459Leu	rs370602437	missense variant	-	NC_000010.11:g.121503854T>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met459Val	rs370602437	missense variant	-	NC_000010.11:g.121503854T>C	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala461Val	rs376451171	missense variant	-	NC_000010.11:g.121503847G>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala461Ser	rs745349225	missense variant	-	NC_000010.11:g.121503848C>A	ExAC,gnomAD
FGFR2	P21802	p.Gly462Arg	rs756855939	missense variant	-	NC_000010.11:g.121503845C>G	ExAC,gnomAD
FGFR2	P21802	p.Gly462Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121503844C>A	NCI-TCGA
FGFR2	P21802	p.Val463Asp	rs751433223	missense variant	-	NC_000010.11:g.121503841A>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu470Asp	rs974338458	missense variant	-	NC_000010.11:g.121503819C>A	-
FGFR2	P21802	p.Asp471Tyr	COSM3806597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121503818C>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Pro472Leu	rs1459232873	missense variant	-	NC_000010.11:g.121503814G>A	gnomAD
FGFR2	P21802	p.Lys473Ile	rs1383333777	missense variant	-	NC_000010.11:g.121503811T>A	gnomAD
FGFR2	P21802	p.Glu475Gly	rs758417193	missense variant	-	NC_000010.11:g.121503805T>C	ExAC,gnomAD
FGFR2	P21802	p.Glu475Lys	rs777657579	missense variant	-	NC_000010.11:g.121503806C>T	ExAC,gnomAD
FGFR2	P21802	p.Pro477Ala	rs752644307	missense variant	-	NC_000010.11:g.121503800G>C	ExAC,gnomAD
FGFR2	P21802	p.Pro477Leu	rs765241522	missense variant	-	NC_000010.11:g.121503799G>A	ExAC,gnomAD
FGFR2	P21802	p.Arg478Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121503797T>C	NCI-TCGA
FGFR2	P21802	p.Asp479His	rs760845434	missense variant	-	NC_000010.11:g.121503794C>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp479Asn	COSM6128304	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121503794C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Thr482Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121500942G>A	NCI-TCGA
FGFR2	P21802	p.Leu483Pro	rs767430380	missense variant	-	NC_000010.11:g.121500939A>G	ExAC,gnomAD
FGFR2	P21802	p.Leu483Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121500940G>C	NCI-TCGA
FGFR2	P21802	p.Lys485Asn	rs149962204	missense variant	-	NC_000010.11:g.121500932C>G	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu489Lys	rs1400354610	missense variant	-	NC_000010.11:g.121500922C>T	gnomAD
FGFR2	P21802	p.Gly493Trp	rs1554917471	missense variant	-	NC_000010.11:g.121500910C>A	-
FGFR2	P21802	p.Gly493Trp	RCV000659648	missense variant	Levy-Hollister syndrome (LADD)	NC_000010.11:g.121500910C>A	ClinVar
FGFR2	P21802	p.Gln494Arg	rs986617010	missense variant	-	NC_000010.11:g.121500906T>C	TOPMed
FGFR2	P21802	p.Val496Ile	rs751731391	missense variant	-	NC_000010.11:g.121500901C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met497Ile	COSM1346237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121500896C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Gly502Glu	rs1173224369	missense variant	-	NC_000010.11:g.121500882C>T	gnomAD
FGFR2	P21802	p.Gly502Arg	rs1384270958	missense variant	-	NC_000010.11:g.121500883C>G	gnomAD
FGFR2	P21802	p.Asp504Asn	rs370273049	missense variant	-	NC_000010.11:g.121500877C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp506Tyr	rs1429693622	missense variant	-	NC_000010.11:g.121500871C>A	TOPMed
FGFR2	P21802	p.Lys509Arg	rs770391340	missense variant	-	NC_000010.11:g.121500861T>C	ExAC,gnomAD
FGFR2	P21802	p.Lys509Glu	rs775829173	missense variant	-	NC_000010.11:g.121500862T>C	ExAC,gnomAD
FGFR2	P21802	p.Glu510Asp	rs759906958	missense variant	-	NC_000010.11:g.121500857C>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala511Thr	rs765066758	missense variant	-	NC_000010.11:g.121500856C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala511Val	rs770309121	missense variant	-	NC_000010.11:g.121500855G>A	ExAC,gnomAD
FGFR2	P21802	p.Val512Ile	rs1204979359	missense variant	-	NC_000010.11:g.121500853C>T	gnomAD
FGFR2	P21802	p.Val514Met	rs1262068931	missense variant	-	NC_000010.11:g.121500847C>T	TOPMed,gnomAD
FGFR2	P21802	p.Val516Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121500841C>T	NCI-TCGA
FGFR2	P21802	p.Asp521Val	rs55689343	missense variant	-	NC_000010.11:g.121498605T>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp521MetPheSerTerUnkUnk	COSM1584816	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.121500830C>-	NCI-TCGA Cosmic
FGFR2	P21802	p.Asp521Gly	rs55689343	missense variant	-	NC_000010.11:g.121498605T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp522Tyr	rs1389986512	missense variant	-	NC_000010.11:g.121498603C>A	TOPMed
FGFR2	P21802	p.Asp522Val	rs756076618	missense variant	-	NC_000010.11:g.121498602T>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Thr524Ala	rs1057520044	missense variant	-	NC_000010.11:g.121498597T>C	-
FGFR2	P21802	p.Thr524Ala	RCV000424161	missense variant	Craniosynostosis syndrome	NC_000010.11:g.121498597T>C	ClinVar
FGFR2	P21802	p.Lys526Glu	RCV000014221	missense variant	Scaphocephaly, maxillary retrusion, and mental retardation	NC_000010.11:g.121498591T>C	ClinVar
FGFR2	P21802	p.Lys526Glu	rs121918507	missense variant	-	NC_000010.11:g.121498591T>C	-
FGFR2	P21802	p.Lys526Glu	rs121918507	missense variant	Familial scaphocephaly syndrome (FSPC)	NC_000010.11:g.121498591T>C	UniProt,dbSNP
FGFR2	P21802	p.Lys526Glu	VAR_023788	missense variant	Familial scaphocephaly syndrome (FSPC)	NC_000010.11:g.121498591T>C	UniProt
FGFR2	P21802	p.Lys526Glu	RCV000014220	missense variant	Crouzon syndrome	NC_000010.11:g.121498591T>C	ClinVar
FGFR2	P21802	p.Met535Leu	rs999092280	missense variant	-	NC_000010.11:g.121498564T>A	TOPMed
FGFR2	P21802	p.Met535Ile	rs1057519800	missense variant	-	NC_000010.11:g.121498562C>T	-
FGFR2	P21802	p.Met535Ile	rs1057519800	missense variant	-	NC_000010.11:g.121498562C>A	-
FGFR2	P21802	p.Met535Ile	rs1057519800	missense variant	-	NC_000010.11:g.121498562C>G	-
FGFR2	P21802	p.Met535Ile	RCV000417871	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498562C>T	ClinVar
FGFR2	P21802	p.Met535Ile	RCV000435530	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498562C>G	ClinVar
FGFR2	P21802	p.Met535Ile	RCV000424365	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498562C>A	ClinVar
FGFR2	P21802	p.Glu536Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121498561C>T	NCI-TCGA
FGFR2	P21802	p.Glu536Gln	rs1293868545	missense variant	-	NC_000010.11:g.121498561C>G	gnomAD
FGFR2	P21802	p.Met537Lys	rs758628019	missense variant	-	NC_000010.11:g.121498557A>T	ExAC,gnomAD
FGFR2	P21802	p.Met537Ile	rs1057519799	missense variant	-	NC_000010.11:g.121498556C>G	-
FGFR2	P21802	p.Met537Ile	rs1057519799	missense variant	-	NC_000010.11:g.121498556C>A	-
FGFR2	P21802	p.Met537Ile	rs1057519799	missense variant	-	NC_000010.11:g.121498556C>T	-
FGFR2	P21802	p.Met537Ile	RCV000436200	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498556C>G	ClinVar
FGFR2	P21802	p.Met537Ile	RCV000442661	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498556C>T	ClinVar
FGFR2	P21802	p.Met537Ile	RCV000425939	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498556C>A	ClinVar
FGFR2	P21802	p.Met540Ile	rs1358630379	missense variant	-	NC_000010.11:g.121498547C>T	gnomAD
FGFR2	P21802	p.Ile541Met	rs1057524807	missense variant	-	NC_000010.11:g.121498544A>C	-
FGFR2	P21802	p.Ile541Met	RCV000431202	missense variant	-	NC_000010.11:g.121498544A>C	ClinVar
FGFR2	P21802	p.Gly542Arg	rs752880857	missense variant	-	NC_000010.11:g.121498543C>T	ExAC,gnomAD
FGFR2	P21802	p.His544Gln	COSM1474415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121498535G>C	NCI-TCGA Cosmic
FGFR2	P21802	p.Asn546Thr	rs765658636	missense variant	-	NC_000010.11:g.121498530T>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ile547Met	rs1375821471	missense variant	-	NC_000010.11:g.121498526G>C	gnomAD
FGFR2	P21802	p.Ile547Val	rs1057519798	missense variant	-	NC_000010.11:g.121498528T>C	-
FGFR2	P21802	p.Ile547Val	RCV000442792	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498528T>C	ClinVar
FGFR2	P21802	p.Ile548Leu	rs1057519901	missense variant	-	NC_000010.11:g.121498525T>G	TOPMed
FGFR2	P21802	p.Ile548Leu	RCV000420899	missense variant	Lung adenocarcinoma	NC_000010.11:g.121498525T>G	ClinVar
FGFR2	P21802	p.Ile548Leu	RCV000441378	missense variant	Neoplasm of the breast	NC_000010.11:g.121498525T>G	ClinVar
FGFR2	P21802	p.Ile548Leu	RCV000438545	missense variant	Endometrial neoplasm	NC_000010.11:g.121498525T>G	ClinVar
FGFR2	P21802	p.Ile548Leu	RCV000423679	missense variant	Malignant neoplasm of body of uterus	NC_000010.11:g.121498525T>G	ClinVar
FGFR2	P21802	p.Ile548Leu	RCV000431121	missense variant	Nasopharyngeal Neoplasms	NC_000010.11:g.121498525T>G	ClinVar
FGFR2	P21802	p.Asn549Leu	rs1057519046	missense variant	-	NC_000010.11:g.121498521_121498522delinsAG	-
FGFR2	P21802	p.Asn549Asp	COSM4604457	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121498522T>C	NCI-TCGA Cosmic
FGFR2	P21802	p.Asn549Lys	rs121913476	missense variant	-	NC_000010.11:g.121498520A>T	-
FGFR2	P21802	p.Asn549Lys	RCV000426965	missense variant	Nasopharyngeal Neoplasms	NC_000010.11:g.121498520A>T	ClinVar
FGFR2	P21802	p.Asn549Lys	RCV000424055	missense variant	Lung adenocarcinoma	NC_000010.11:g.121498520A>T	ClinVar
FGFR2	P21802	p.Asn549His	RCV000425472	missense variant	Nasopharyngeal Neoplasms	NC_000010.11:g.121498522T>G	ClinVar
FGFR2	P21802	p.Asn549His	RCV000432507	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498522T>G	ClinVar
FGFR2	P21802	p.Asn549His	RCV000428300	missense variant	Lung adenocarcinoma	NC_000010.11:g.121498522T>G	ClinVar
FGFR2	P21802	p.Asn549Lys	rs121913476	missense variant	-	NC_000010.11:g.121498520A>C	-
FGFR2	P21802	p.Asn549Lys	RCV000433483	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498520A>T	ClinVar
FGFR2	P21802	p.Asn549Lys	RCV000434110	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121498520A>C	ClinVar
FGFR2	P21802	p.Asn549Lys	RCV000443743	missense variant	Malignant neoplasm of body of uterus	NC_000010.11:g.121498520A>T	ClinVar
FGFR2	P21802	p.Asn549Lys	RCV000441770	missense variant	Neoplasm of the breast	NC_000010.11:g.121498520A>T	ClinVar
FGFR2	P21802	p.Asn549His	RCV000418082	missense variant	Neoplasm of the breast	NC_000010.11:g.121498522T>G	ClinVar
FGFR2	P21802	p.Asn549His	RCV000415507	missense variant	Crouzon syndrome	NC_000010.11:g.121498522T>G	ClinVar
FGFR2	P21802	p.Asn549His	RCV000435736	missense variant	Malignant neoplasm of body of uterus	NC_000010.11:g.121498522T>G	ClinVar
FGFR2	P21802	p.Leu550Val	rs1215036637	missense variant	-	NC_000010.11:g.121498519G>C	TOPMed
FGFR2	P21802	p.Leu550Ile	COSM1346225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121498519G>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Leu550Pro	rs755350933	missense variant	-	NC_000010.11:g.121498518A>G	ExAC,gnomAD
FGFR2	P21802	p.Leu551Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121498516G>T	NCI-TCGA
FGFR2	P21802	p.Gly552Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121498512C>T	NCI-TCGA
FGFR2	P21802	p.Gln556Pro	rs1252475021	missense variant	-	NC_000010.11:g.121498500T>G	TOPMed
FGFR2	P21802	p.Gly558Glu	rs761446954	missense variant	-	NC_000010.11:g.121496722C>T	ExAC,gnomAD
FGFR2	P21802	p.Pro559His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121496719G>T	NCI-TCGA
FGFR2	P21802	p.Leu560Phe	rs751077552	missense variant	-	NC_000010.11:g.121496717G>A	ExAC,gnomAD
FGFR2	P21802	p.Tyr561Ser	rs957991200	missense variant	-	NC_000010.11:g.121496713T>G	TOPMed
FGFR2	P21802	p.Ile563Met	COSM4393097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121496706T>C	NCI-TCGA Cosmic
FGFR2	P21802	p.Val564Ile	rs1057519797	missense variant	-	NC_000010.11:g.121496705C>T	-
FGFR2	P21802	p.Val564Ile	RCV000423825	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121496705C>T	ClinVar
FGFR2	P21802	p.Glu565Ala	RCV000014219	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121496701T>G	ClinVar
FGFR2	P21802	p.Glu565Gly	rs121918506	missense variant	-	NC_000010.11:g.121496701T>C	-
FGFR2	P21802	p.Glu565Gly	rs121918506	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121496701T>C	UniProt,dbSNP
FGFR2	P21802	p.Glu565Gly	VAR_017277	missense variant	Pfeiffer syndrome (PS)	NC_000010.11:g.121496701T>C	UniProt
FGFR2	P21802	p.Glu565Ala	rs121918506	missense variant	-	NC_000010.11:g.121496701T>G	-
FGFR2	P21802	p.Glu565Gly	RCV000438913	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121496701T>C	ClinVar
FGFR2	P21802	p.Glu565Gly	RCV000415495	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121496701T>C	ClinVar
FGFR2	P21802	p.Glu565Ala	RCV000434384	missense variant	Craniosynostosis syndrome	NC_000010.11:g.121496701T>G	ClinVar
FGFR2	P21802	p.Gly570Arg	COSM4012169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121496687C>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Leu572Phe	rs371854567	missense variant	-	NC_000010.11:g.121496681G>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg573Ter	RCV000681721	nonsense	-	NC_000010.11:g.121496678G>A	ClinVar
FGFR2	P21802	p.Ala578Gly	rs1345199187	missense variant	-	NC_000010.11:g.121496662G>C	gnomAD
FGFR2	P21802	p.Arg579Trp	RCV000722571	missense variant	-	NC_000010.11:g.121496660G>A	ClinVar
FGFR2	P21802	p.Pro581Leu	rs1296941849	missense variant	-	NC_000010.11:g.121496653G>A	gnomAD
FGFR2	P21802	p.Pro581Gln	COSM3966914	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121496653G>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Gly583Arg	rs138712692	missense variant	-	NC_000010.11:g.121496648C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Gly583Ala	rs1287829901	missense variant	-	NC_000010.11:g.121496647C>G	gnomAD
FGFR2	P21802	p.Met584Val	rs759496676	missense variant	-	NC_000010.11:g.121496645T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met584Arg	rs1407878017	missense variant	-	NC_000010.11:g.121496644A>C	gnomAD
FGFR2	P21802	p.Glu585Gln	RCV000691056	missense variant	FGFR2 related craniosynostosis	NC_000010.11:g.121496642C>G	ClinVar
FGFR2	P21802	p.Tyr586Ter	rs1554914180	stop gained	-	NC_000010.11:g.121496637_121496638delinsTC	-
FGFR2	P21802	p.Tyr586Ter	RCV000657844	nonsense	-	NC_000010.11:g.121496637_121496638delinsTC	ClinVar
FGFR2	P21802	p.Ser587Cys	COSM1474413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121496635G>C	NCI-TCGA Cosmic
FGFR2	P21802	p.Ser587Ala	rs1173726351	missense variant	-	NC_000010.11:g.121496636A>C	gnomAD
FGFR2	P21802	p.Tyr588Ser	rs770827652	missense variant	-	NC_000010.11:g.121496632T>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Tyr588Cys	rs770827652	missense variant	-	NC_000010.11:g.121496632T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg592His	rs768761510	missense variant	-	NC_000010.11:g.121496620C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg592Cys	RCV000297633	missense variant	Levy-Hollister syndrome (LADD)	NC_000010.11:g.121496621G>A	ClinVar
FGFR2	P21802	p.Arg592Cys	RCV000289968	missense variant	Acrocephalosyndactyly type I	NC_000010.11:g.121496621G>A	ClinVar
FGFR2	P21802	p.Arg592Cys	rs141929882	missense variant	-	NC_000010.11:g.121496621G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg592Cys	RCV000340231	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000010.11:g.121496621G>A	ClinVar
FGFR2	P21802	p.Arg592Cys	RCV000396197	missense variant	Isolated coronal synostosis	NC_000010.11:g.121496621G>A	ClinVar
FGFR2	P21802	p.Arg592Cys	RCV000262246	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121496621G>A	ClinVar
FGFR2	P21802	p.Arg592Cys	RCV000305351	missense variant	Cutis Gyrata syndrome of Beare and Stevenson (BSTVS)	NC_000010.11:g.121496621G>A	ClinVar
FGFR2	P21802	p.Arg592Cys	RCV000341569	missense variant	-	NC_000010.11:g.121496621G>A	ClinVar
FGFR2	P21802	p.Arg592Cys	RCV000357145	missense variant	Crouzon syndrome	NC_000010.11:g.121496621G>A	ClinVar
FGFR2	P21802	p.Arg592Cys	RCV000404655	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121496621G>A	ClinVar
FGFR2	P21802	p.Glu596Lys	COSM3434758	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121496609C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Met598Val	rs1201947648	missense variant	-	NC_000010.11:g.121496603T>C	gnomAD
FGFR2	P21802	p.Lys601Arg	rs780587674	missense variant	-	NC_000010.11:g.121496593T>C	ExAC,gnomAD
FGFR2	P21802	p.Lys601Gln	rs1485035386	missense variant	-	NC_000010.11:g.121496594T>G	gnomAD
FGFR2	P21802	p.Ser605Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121496581G>A	NCI-TCGA
FGFR2	P21802	p.Cys606Trp	rs371395564	missense variant	-	NC_000010.11:g.121496577G>C	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ala611Val	COSM3434754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121496563G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg612Thr	VAR_046071	Missense	-	-	UniProt
FGFR2	P21802	p.Gly613Arg	VAR_015012	Missense	-	-	UniProt
FGFR2	P21802	p.Met614Val	rs751047267	missense variant	-	NC_000010.11:g.121496555T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Tyr616Cys	rs762545440	missense variant	-	NC_000010.11:g.121496548T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Leu617Met	rs1057519796	missense variant	-	NC_000010.11:g.121496546A>T	-
FGFR2	P21802	p.Leu617Met	RCV000428728	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121496546A>T	ClinVar
FGFR2	P21802	p.Ala618Thr	rs752349068	missense variant	-	NC_000010.11:g.121496543C>T	ExAC
FGFR2	P21802	p.Ser619Phe	rs1451548514	missense variant	-	NC_000010.11:g.121496539G>A	gnomAD
FGFR2	P21802	p.Ile623Val	rs775697900	missense variant	-	NC_000010.11:g.121488110T>C	ExAC,gnomAD
FGFR2	P21802	p.Arg625Ter	rs1466101220	stop gained	-	NC_000010.11:g.121488104G>A	gnomAD
FGFR2	P21802	p.Arg625Gln	COSM3434746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121488103C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Ala628Thr	rs121918509	missense variant	Lacrimo-auriculo-dento-digital syndrome (LADDS)	NC_000010.11:g.121488095C>T	UniProt,dbSNP
FGFR2	P21802	p.Ala628Thr	VAR_029884	missense variant	Lacrimo-auriculo-dento-digital syndrome (LADDS)	NC_000010.11:g.121488095C>T	UniProt
FGFR2	P21802	p.Ala628Thr	rs121918509	missense variant	-	NC_000010.11:g.121488095C>T	-
FGFR2	P21802	p.Ala628Thr	RCV000414415	missense variant	-	NC_000010.11:g.121488095C>T	ClinVar
FGFR2	P21802	p.Ala628Thr	RCV000014224	missense variant	Levy-Hollister syndrome (LADD)	NC_000010.11:g.121488095C>T	ClinVar
FGFR2	P21802	p.Val632Ile	rs1372392695	missense variant	-	NC_000010.11:g.121488083C>T	gnomAD
FGFR2	P21802	p.Val634Ala	COSM3806593	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121488076A>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Val634Ile	rs1243256163	missense variant	-	NC_000010.11:g.121488077C>T	TOPMed
FGFR2	P21802	p.Glu636Ter	COSM1584819	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.121488071C>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Asn638Thr	rs777169135	missense variant	-	NC_000010.11:g.121488064T>G	ExAC,gnomAD
FGFR2	P21802	p.Asn638Asp	rs1490997619	missense variant	-	NC_000010.11:g.121488065T>C	gnomAD
FGFR2	P21802	p.Asn638Lys	rs1057519854	missense variant	-	NC_000010.11:g.121488063A>T	-
FGFR2	P21802	p.Asn638Ser	rs777169135	missense variant	-	NC_000010.11:g.121488064T>C	ExAC,gnomAD
FGFR2	P21802	p.Asn638Lys	RCV000444404	missense variant	Malignant neoplasm of body of uterus	NC_000010.11:g.121488063A>T	ClinVar
FGFR2	P21802	p.Asn638Thr	RCV000442059	missense variant	Craniosynostosis syndrome	NC_000010.11:g.121488064T>G	ClinVar
FGFR2	P21802	p.Asn638Lys	RCV000426084	missense variant	Neoplasm of the breast	NC_000010.11:g.121488063A>T	ClinVar
FGFR2	P21802	p.Asn638Lys	RCV000436783	missense variant	Nasopharyngeal Neoplasms	NC_000010.11:g.121488063A>T	ClinVar
FGFR2	P21802	p.Asn638Lys	RCV000432646	missense variant	Lung adenocarcinoma	NC_000010.11:g.121488063A>T	ClinVar
FGFR2	P21802	p.Asn638Lys	RCV000420097	missense variant	Endometrial neoplasm	NC_000010.11:g.121488063A>T	ClinVar
FGFR2	P21802	p.Lys641Arg	RCV000731782	missense variant	-	NC_000010.11:g.121488055T>C	ClinVar
FGFR2	P21802	p.Ile642Lys	rs1064796413	missense variant	-	NC_000010.11:g.121488052A>T	-
FGFR2	P21802	p.Ile642Lys	RCV000478596	missense variant	-	NC_000010.11:g.121488052A>T	ClinVar
FGFR2	P21802	p.Ala648Thr	rs121918508	missense variant	Lacrimo-auriculo-dento-digital syndrome (LADDS)	NC_000010.11:g.121488035C>T	UniProt,dbSNP
FGFR2	P21802	p.Ala648Thr	VAR_029885	missense variant	Lacrimo-auriculo-dento-digital syndrome (LADDS)	NC_000010.11:g.121488035C>T	UniProt
FGFR2	P21802	p.Ala648Thr	rs121918508	missense variant	-	NC_000010.11:g.121488035C>T	TOPMed
FGFR2	P21802	p.Ala648Thr	RCV000014222	missense variant	Levy-Hollister syndrome (LADD)	NC_000010.11:g.121488035C>T	ClinVar
FGFR2	P21802	p.Arg649_Asp650delinsSer	VAR_029886	deletion_insertion	Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730]	-	UniProt
FGFR2	P21802	p.Asp650Gly	rs758829154	missense variant	-	NC_000010.11:g.121488028T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp650Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121488029C>A	NCI-TCGA
FGFR2	P21802	p.Asn653His	rs1013096035	missense variant	-	NC_000010.11:g.121488020T>G	gnomAD
FGFR2	P21802	p.Ile654Met	rs1385830246	missense variant	-	NC_000010.11:g.121488015T>C	gnomAD
FGFR2	P21802	p.Ile654Val	rs747718232	missense variant	-	NC_000010.11:g.121488017T>C	ExAC,gnomAD
FGFR2	P21802	p.Ile654Thr	rs1404851539	missense variant	-	NC_000010.11:g.121488016A>G	gnomAD
FGFR2	P21802	p.Asp655Gly	COSM4012164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121488013T>C	NCI-TCGA Cosmic
FGFR2	P21802	p.Lys658Glu	rs1057520027	missense variant	-	NC_000010.11:g.121488005T>C	-
FGFR2	P21802	p.Lys658Asn	rs1057520029	missense variant	-	NC_000010.11:g.121488003T>A	-
FGFR2	P21802	p.Lys658Glu	RCV000439319	missense variant	Endometrial neoplasm	NC_000010.11:g.121488005T>C	ClinVar
FGFR2	P21802	p.Lys658Asn	RCV000433692	missense variant	Endometrial neoplasm	NC_000010.11:g.121488003T>A	ClinVar
FGFR2	P21802	p.Lys659Asn	COSM1146407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121488000C>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Lys659Glu	rs1057519795	missense variant	-	NC_000010.11:g.121488002T>C	-
FGFR2	P21802	p.Lys659Glu	RCV000417597	missense variant	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	NC_000010.11:g.121488002T>C	ClinVar
FGFR2	P21802	p.Lys659Asn	VAR_017279	Missense	-	-	UniProt
FGFR2	P21802	p.Asn662Ser	rs962103382	missense variant	-	NC_000010.11:g.121487992T>C	TOPMed,gnomAD
FGFR2	P21802	p.Gly663Glu	VAR_017280	Missense	Pfeiffer syndrome (PS) [MIM:101600]	-	UniProt
FGFR2	P21802	p.Arg664Gln	rs1554907364	missense variant	-	NC_000010.11:g.121487420C>T	-
FGFR2	P21802	p.Arg664Trp	rs113014479	missense variant	-	NC_000010.11:g.121487421G>A	gnomAD
FGFR2	P21802	p.Arg664Gln	RCV000624844	missense variant	Inborn genetic diseases	NC_000010.11:g.121487420C>T	ClinVar
FGFR2	P21802	p.Lys668Thr	COSM2056141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121487408T>G	NCI-TCGA Cosmic
FGFR2	P21802	p.Ala674Val	rs1554907337	missense variant	-	NC_000010.11:g.121487390G>A	-
FGFR2	P21802	p.Ala674Val	RCV000659649	missense variant	Levy-Hollister syndrome (LADD)	NC_000010.11:g.121487390G>A	ClinVar
FGFR2	P21802	p.Arg678Ser	rs750244862	missense variant	-	NC_000010.11:g.121487377T>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg678Gly	COSM6064906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121487379T>C	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg678Ser	rs750244862	missense variant	-	NC_000010.11:g.121487377T>G	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Arg678Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121487378C>G	NCI-TCGA
FGFR2	P21802	p.Arg678Gly	VAR_017281	Missense	Crouzon syndrome (CS) [MIM:123500]	-	UniProt
FGFR2	P21802	p.Val679Ile	rs371596204	missense variant	-	NC_000010.11:g.121487376C>T	ESP,ExAC,TOPMed
FGFR2	P21802	p.Ser684Thr	rs764102895	missense variant	-	NC_000010.11:g.121487360C>G	ExAC,gnomAD
FGFR2	P21802	p.Val686Ile	rs760895785	missense variant	-	NC_000010.11:g.121487355C>T	ExAC,gnomAD
FGFR2	P21802	p.Gly690Arg	rs1311258996	missense variant	-	NC_000010.11:g.121485522C>T	TOPMed
FGFR2	P21802	p.Met693Val	rs774682374	missense variant	-	NC_000010.11:g.121485513T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met693Thr	rs146571201	missense variant	-	NC_000010.11:g.121485512A>G	ESP,ExAC,gnomAD
FGFR2	P21802	p.Glu695Lys	COSM3434738	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121485507C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Ser702Leu	rs150015885	missense variant	-	NC_000010.11:g.121485485G>A	ESP,TOPMed
FGFR2	P21802	p.Pro708Ser	COSM29843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121485468G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Val709Met	rs1196438732	missense variant	-	NC_000010.11:g.121485465C>T	TOPMed
FGFR2	P21802	p.Glu710Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121485461T>C	NCI-TCGA
FGFR2	P21802	p.Glu711Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121485459C>T	NCI-TCGA
FGFR2	P21802	p.Glu718Ala	rs1470951612	missense variant	-	NC_000010.11:g.121485437T>G	gnomAD
FGFR2	P21802	p.Glu718Lys	COSM3434727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121485438C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Met722Ile	COSM3434723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121485424C>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Ala726Thr	rs776188535	missense variant	-	NC_000010.11:g.121485414C>T	ExAC,gnomAD
FGFR2	P21802	p.Ala726Gly	rs1458081920	missense variant	-	NC_000010.11:g.121485413G>C	TOPMed
FGFR2	P21802	p.Cys728Ter	rs1224863755	stop gained	-	NC_000010.11:g.121485406G>T	gnomAD
FGFR2	P21802	p.Asn730Ser	rs200453002	missense variant	-	NC_000010.11:g.121485401T>C	1000Genomes,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu731Lys	rs1224606327	missense variant	-	NC_000010.11:g.121485399C>T	gnomAD
FGFR2	P21802	p.Met735Ile	rs1432567715	missense variant	-	NC_000010.11:g.121483794C>G	gnomAD
FGFR2	P21802	p.Arg737Thr	rs1157875939	missense variant	-	NC_000010.11:g.121483789C>G	gnomAD
FGFR2	P21802	p.Arg737Gly	COSM3686538	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121483790T>C	NCI-TCGA Cosmic
FGFR2	P21802	p.Arg737Met	COSM3686534	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121483789C>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Asp738Asn	rs1259218325	missense variant	-	NC_000010.11:g.121483787C>T	TOPMed
FGFR2	P21802	p.Pro744Ser	rs747941020	missense variant	-	NC_000010.11:g.121483769G>A	ExAC,gnomAD
FGFR2	P21802	p.Pro744Leu	rs375719482	missense variant	-	NC_000010.11:g.121483768G>A	ESP,TOPMed,gnomAD
FGFR2	P21802	p.Ser745Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121483765G>T	NCI-TCGA
FGFR2	P21802	p.Gln746His	rs116895810	missense variant	-	NC_000010.11:g.121483761C>G	1000Genomes
FGFR2	P21802	p.Thr749Ala	rs754928713	missense variant	-	NC_000010.11:g.121483754T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Thr749Met	rs745947630	missense variant	-	NC_000010.11:g.121483753G>A	ExAC,gnomAD
FGFR2	P21802	p.Lys751Gln	rs757501816	missense variant	-	NC_000010.11:g.121483748T>G	ExAC,gnomAD
FGFR2	P21802	p.Val754Ile	rs751731823	missense variant	-	NC_000010.11:g.121483739C>T	ExAC,gnomAD
FGFR2	P21802	p.Val754Gly	rs777950855	missense variant	-	NC_000010.11:g.121483738A>C	ExAC,gnomAD
FGFR2	P21802	p.Leu757Ser	rs1296874666	missense variant	-	NC_000010.11:g.121483729A>G	gnomAD
FGFR2	P21802	p.Arg759Gln	rs55774317	missense variant	-	NC_000010.11:g.121483723C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Leu761Ile	COSM5477128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121483718G>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Leu761Phe	rs912905439	missense variant	-	NC_000010.11:g.121483718G>A	TOPMed
FGFR2	P21802	p.Thr762Ile	rs1319294677	missense variant	-	NC_000010.11:g.121483714G>A	gnomAD
FGFR2	P21802	p.Leu763HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.121483710_121483711GA>-	NCI-TCGA
FGFR2	P21802	p.Thr764AsnPheSerTerUnk	COSM1584822	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.121483708_121483709insT	NCI-TCGA Cosmic
FGFR2	P21802	p.Asn766Ser	rs765724372	missense variant	-	NC_000010.11:g.121483702T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu768Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.121480021C>A	NCI-TCGA
FGFR2	P21802	p.Glu768Lys	rs763622845	missense variant	-	NC_000010.11:g.121480021C>T	ExAC,gnomAD
FGFR2	P21802	p.Tyr769Ter	COSM1584823	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.121480016G>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Leu770Val	rs201752803	missense variant	-	NC_000010.11:g.121480015A>C	1000Genomes,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp771Asn	rs765174665	missense variant	-	NC_000010.11:g.121480012C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Asp771Glu	rs759404861	missense variant	-	NC_000010.11:g.121480010G>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Leu772Phe	rs966805990	missense variant	-	NC_000010.11:g.121480009G>A	TOPMed
FGFR2	P21802	p.Leu772Ile	rs966805990	missense variant	-	NC_000010.11:g.121480009G>T	TOPMed
FGFR2	P21802	p.Pro775Leu	rs1032609119	missense variant	-	NC_000010.11:g.121479999G>A	TOPMed
FGFR2	P21802	p.Pro775Arg	rs1032609119	missense variant	-	NC_000010.11:g.121479999G>C	TOPMed
FGFR2	P21802	p.Leu776ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.121479996_121479997insGAGG	NCI-TCGA
FGFR2	P21802	p.Glu777Ter	rs374993905	stop gained	-	NC_000010.11:g.121479994C>A	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu777Lys	rs374993905	missense variant	-	NC_000010.11:g.121479994C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu777Gln	rs374993905	missense variant	-	NC_000010.11:g.121479994C>G	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu777Lys	RCV000121065	missense variant	-	NC_000010.11:g.121479994C>T	ClinVar
FGFR2	P21802	p.Gln778Ter	rs1388165238	stop gained	-	NC_000010.11:g.121479991G>A	gnomAD
FGFR2	P21802	p.Tyr779Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121479987T>C	NCI-TCGA
FGFR2	P21802	p.Ser780Leu	COSM1297002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121479984G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Pro781Ala	rs1416453326	missense variant	-	NC_000010.11:g.121479982G>C	gnomAD
FGFR2	P21802	p.Ser782Arg	rs147439731	missense variant	-	NC_000010.11:g.121479977A>C	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Pro784Ser	rs954917585	missense variant	-	NC_000010.11:g.121479973G>A	TOPMed,gnomAD
FGFR2	P21802	p.Thr786Arg	rs1476013209	missense variant	-	NC_000010.11:g.121479966G>C	gnomAD
FGFR2	P21802	p.Thr786Lys	COSM1146406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121479966G>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Cys790Tyr	rs780497781	missense variant	-	NC_000010.11:g.121479954C>T	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Cys790Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121479954C>G	NCI-TCGA
FGFR2	P21802	p.Ser792Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.121479948G>A	NCI-TCGA
FGFR2	P21802	p.Gly793Glu	rs1206283619	missense variant	-	NC_000010.11:g.121479945C>T	TOPMed
FGFR2	P21802	p.Asp794Asn	rs756718577	missense variant	-	NC_000010.11:g.121479943C>T	ExAC,gnomAD
FGFR2	P21802	p.Asp795Asn	rs1024846807	missense variant	-	NC_000010.11:g.121479940C>T	TOPMed
FGFR2	P21802	p.Ser796Phe	COSM3434713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121479936G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Ser799Phe	COSM3434711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121479927G>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Pro800Leu	rs746336453	missense variant	-	NC_000010.11:g.121479924G>A	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Met803Ile	COSM6128319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121479914C>A	NCI-TCGA Cosmic
FGFR2	P21802	p.Met803Val	rs781527776	missense variant	-	NC_000010.11:g.121479916T>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Pro804Ser	rs575812178	missense variant	-	NC_000010.11:g.121479913G>A	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Pro804Ala	rs575812178	missense variant	-	NC_000010.11:g.121479913G>C	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Tyr805Ser	rs763867175	missense variant	-	NC_000010.11:g.121479909T>G	ExAC,gnomAD
FGFR2	P21802	p.Tyr805Ter	rs558460047	stop gained	-	NC_000010.11:g.121479908G>T	1000Genomes,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Glu806Gln	rs764959117	missense variant	-	NC_000010.11:g.121479907C>G	ExAC,gnomAD
FGFR2	P21802	p.Glu806Lys	rs764959117	missense variant	-	NC_000010.11:g.121479907C>T	ExAC,gnomAD
FGFR2	P21802	p.Glu806Lys	RCV000324015	missense variant	Crouzon syndrome	NC_000010.11:g.121479907C>T	ClinVar
FGFR2	P21802	p.Glu806Lys	RCV000311542	missense variant	Cutis Gyrata syndrome of Beare and Stevenson (BSTVS)	NC_000010.11:g.121479907C>T	ClinVar
FGFR2	P21802	p.Glu806Lys	RCV000376381	missense variant	Isolated coronal synostosis	NC_000010.11:g.121479907C>T	ClinVar
FGFR2	P21802	p.Glu806Lys	RCV000337283	missense variant	Acrocephalosyndactyly type I	NC_000010.11:g.121479907C>T	ClinVar
FGFR2	P21802	p.Glu806Lys	RCV000336994	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000010.11:g.121479907C>T	ClinVar
FGFR2	P21802	p.Glu806Lys	RCV000282278	missense variant	Pfeiffer syndrome (ACS5)	NC_000010.11:g.121479907C>T	ClinVar
FGFR2	P21802	p.Glu806Lys	RCV000284236	missense variant	-	NC_000010.11:g.121479907C>T	ClinVar
FGFR2	P21802	p.Glu806Lys	RCV000394935	missense variant	Jackson-Weiss syndrome (JWS)	NC_000010.11:g.121479907C>T	ClinVar
FGFR2	P21802	p.Glu806Lys	RCV000402617	missense variant	Levy-Hollister syndrome (LADD)	NC_000010.11:g.121479907C>T	ClinVar
FGFR2	P21802	p.Cys808Trp	rs759496942	missense variant	-	NC_000010.11:g.121479899G>C	ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Cys808Phe	rs1430681691	missense variant	-	NC_000010.11:g.121479900C>A	TOPMed
FGFR2	P21802	p.Leu809Pro	rs368003279	missense variant	-	NC_000010.11:g.121479897A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Pro810Thr	rs1315946112	missense variant	-	NC_000010.11:g.121479895G>T	gnomAD
FGFR2	P21802	p.Gln811Lys	rs1450657969	missense variant	-	NC_000010.11:g.121479892G>T	gnomAD
FGFR2	P21802	p.Tyr812Cys	rs766217118	missense variant	-	NC_000010.11:g.121479888T>C	ExAC,gnomAD
FGFR2	P21802	p.Pro813Arg	rs567030847	missense variant	-	NC_000010.11:g.121479885G>C	1000Genomes,ExAC,gnomAD
FGFR2	P21802	p.Pro813HisPheSerTerUnk	COSM1584827	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.121479881_121479885GTGTG>-	NCI-TCGA Cosmic
FGFR2	P21802	p.Pro813Thr	COSM2056115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.121479886G>T	NCI-TCGA Cosmic
FGFR2	P21802	p.Gly817Ser	rs144176428	missense variant	-	NC_000010.11:g.121479874C>T	ESP,ExAC,TOPMed,gnomAD
FGFR2	P21802	p.Ser818Gly	rs749474548	missense variant	-	NC_000010.11:g.121479871T>C	ExAC,gnomAD
FGFR2	P21802	p.Val819Ile	rs1183290679	missense variant	-	NC_000010.11:g.121479868C>T	gnomAD
FGFR2	P21802	p.Val819Leu	rs1183290679	missense variant	-	NC_000010.11:g.121479868C>G	gnomAD
GLDC	P23378	p.Met1Thr	RCV000012768	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645498A>G	ClinVar
GLDC	P23378	p.Gln2Ter	rs1554652870	stop gained	-	NC_000009.12:g.6645496G>A	-
GLDC	P23378	p.Gln2Ter	RCV000666921	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645496G>A	ClinVar
GLDC	P23378	p.Ser3Tyr	rs1416204890	missense variant	-	NC_000009.12:g.6645492G>T	TOPMed,gnomAD
GLDC	P23378	p.Ser3Phe	rs1416204890	missense variant	-	NC_000009.12:g.6645492G>A	TOPMed,gnomAD
GLDC	P23378	p.Ser3Ala	rs1283457075	missense variant	-	NC_000009.12:g.6645493A>C	TOPMed
GLDC	P23378	p.Cys4Ser	rs1267461962	missense variant	-	NC_000009.12:g.6645489C>G	TOPMed
GLDC	P23378	p.Ala5Pro	rs1358259956	missense variant	-	NC_000009.12:g.6645487C>G	TOPMed,gnomAD
GLDC	P23378	p.Ala5Val	rs1297951761	missense variant	-	NC_000009.12:g.6645486G>A	gnomAD
GLDC	P23378	p.Arg6Thr	rs1244750904	missense variant	-	NC_000009.12:g.6645483C>G	TOPMed
GLDC	P23378	p.Ala7Val	rs1420734296	missense variant	-	NC_000009.12:g.6645480G>A	gnomAD
GLDC	P23378	p.Trp8Ter	RCV000669243	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645476C>T	ClinVar
GLDC	P23378	p.Trp8Ter	RCV000668297	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645477C>T	ClinVar
GLDC	P23378	p.Trp8Ter	rs1163356968	stop gained	-	NC_000009.12:g.6645476C>T	TOPMed,gnomAD
GLDC	P23378	p.Trp8Cys	rs1163356968	missense variant	-	NC_000009.12:g.6645476C>G	TOPMed,gnomAD
GLDC	P23378	p.Trp8Ter	rs1477860542	stop gained	-	NC_000009.12:g.6645477C>T	TOPMed
GLDC	P23378	p.Trp8Leu	rs1477860542	missense variant	-	NC_000009.12:g.6645477C>A	TOPMed
GLDC	P23378	p.Leu10Ter	RCV000049501	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645472del	ClinVar
GLDC	P23378	p.Arg11Ser	rs1359478814	missense variant	-	NC_000009.12:g.6645469G>T	gnomAD
GLDC	P23378	p.Arg11Leu	rs1190190287	missense variant	-	NC_000009.12:g.6645468C>A	gnomAD
GLDC	P23378	p.Arg14Ser	RCV000559475	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645460G>T	ClinVar
GLDC	P23378	p.Arg14Cys	rs182760732	missense variant	-	NC_000009.12:g.6645460G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg14Gly	rs182760732	missense variant	-	NC_000009.12:g.6645460G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg14Ser	rs182760732	missense variant	-	NC_000009.12:g.6645460G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly15Glu	rs1405876098	missense variant	-	NC_000009.12:g.6645456C>T	TOPMed
GLDC	P23378	p.Gly15Arg	rs1349671382	missense variant	-	NC_000009.12:g.6645457C>T	TOPMed
GLDC	P23378	p.Gly18Asp	rs1278424732	missense variant	-	NC_000009.12:g.6645447C>T	TOPMed
GLDC	P23378	p.Gly18Cys	rs535143891	missense variant	-	NC_000009.12:g.6645448C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly18Cys	RCV000609377	missense variant	-	NC_000009.12:g.6645448C>A	ClinVar
GLDC	P23378	p.Gly18Val	rs1278424732	missense variant	-	NC_000009.12:g.6645447C>A	TOPMed
GLDC	P23378	p.Arg20His	rs1273220243	missense variant	-	NC_000009.12:g.6645441C>T	gnomAD
GLDC	P23378	p.Arg21His	rs939541797	missense variant	-	NC_000009.12:g.6645438C>T	TOPMed
GLDC	P23378	p.Arg21Pro	rs939541797	missense variant	-	NC_000009.12:g.6645438C>G	TOPMed
GLDC	P23378	p.Leu22Met	rs1271356693	missense variant	-	NC_000009.12:g.6645436G>T	TOPMed
GLDC	P23378	p.Ala23Val	rs1420091225	missense variant	-	NC_000009.12:g.6645432G>A	TOPMed,gnomAD
GLDC	P23378	p.Ala23Asp	rs1420091225	missense variant	-	NC_000009.12:g.6645432G>T	TOPMed,gnomAD
GLDC	P23378	p.Ala23Thr	rs978322077	missense variant	-	NC_000009.12:g.6645433C>T	TOPMed,gnomAD
GLDC	P23378	p.Gly27Glu	rs753495891	missense variant	-	NC_000009.12:g.6645420C>T	TOPMed,gnomAD
GLDC	P23378	p.Pro28Thr	rs1395882327	missense variant	-	NC_000009.12:g.6645418G>T	gnomAD
GLDC	P23378	p.Cys29Tyr	rs1167164313	missense variant	-	NC_000009.12:g.6645414C>T	gnomAD
GLDC	P23378	p.Ala31Thr	rs974805344	missense variant	-	NC_000009.12:g.6645409C>T	gnomAD
GLDC	P23378	p.Pro32Leu	rs1194585396	missense variant	-	NC_000009.12:g.6645405G>A	gnomAD
GLDC	P23378	p.Pro32Ser	rs1004754180	missense variant	-	NC_000009.12:g.6645406G>A	TOPMed,gnomAD
GLDC	P23378	p.Arg33Trp	rs1443669793	missense variant	-	NC_000009.12:g.6645403G>A	TOPMed
GLDC	P23378	p.Arg33Gln	rs1263540087	missense variant	-	NC_000009.12:g.6645402C>T	gnomAD
GLDC	P23378	p.Ser34Gly	rs1189278441	missense variant	-	NC_000009.12:g.6645400T>C	gnomAD
GLDC	P23378	p.Arg35Gln	rs1253592286	missense variant	-	NC_000009.12:g.6645396C>T	gnomAD
GLDC	P23378	p.Asp36His	rs573883784	missense variant	-	NC_000009.12:g.6645394C>G	1000Genomes
GLDC	P23378	p.Ser37Arg	rs1265292565	missense variant	-	NC_000009.12:g.6645389G>C	gnomAD
GLDC	P23378	p.Ser37Asn	rs763471932	missense variant	-	NC_000009.12:g.6645390C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser37Asn	RCV000638269	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645390C>T	ClinVar
GLDC	P23378	p.Ser39Arg	rs916351495	missense variant	-	NC_000009.12:g.6645383A>C	TOPMed
GLDC	P23378	p.Gly40Ser	rs1212351532	missense variant	-	NC_000009.12:g.6645382C>T	gnomAD
GLDC	P23378	p.Gly42Arg	rs190430477	missense variant	-	NC_000009.12:g.6645376C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly42Glu	rs759680694	missense variant	-	NC_000009.12:g.6645375C>T	ExAC,gnomAD
GLDC	P23378	p.Asp43Glu	rs776824071	missense variant	-	NC_000009.12:g.6645371G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp43Gly	rs1273234574	missense variant	-	NC_000009.12:g.6645372T>C	gnomAD
GLDC	P23378	p.Asp43Ter	RCV000667354	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645372del	ClinVar
GLDC	P23378	p.Ser44Arg	rs771189520	missense variant	-	NC_000009.12:g.6645368G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser44Arg	rs771189520	missense variant	-	NC_000009.12:g.6645368G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala45Val	rs1372322703	missense variant	-	NC_000009.12:g.6645366G>A	TOPMed,gnomAD
GLDC	P23378	p.Gly48Glu	rs1445233834	missense variant	-	NC_000009.12:g.6645357C>T	gnomAD
GLDC	P23378	p.Gly48Trp	rs1057515608	missense variant	-	NC_000009.12:g.6645358C>A	TOPMed,gnomAD
GLDC	P23378	p.Gly48Trp	RCV000406674	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645358C>A	ClinVar
GLDC	P23378	p.Ala49Gly	rs202102792	missense variant	-	NC_000009.12:g.6645354G>C	gnomAD
GLDC	P23378	p.Ser50Leu	rs778725420	missense variant	-	NC_000009.12:g.6645351G>A	ExAC,gnomAD
GLDC	P23378	p.Arg51Cys	rs1173661621	missense variant	-	NC_000009.12:g.6645349G>A	gnomAD
GLDC	P23378	p.Arg51His	rs1396710210	missense variant	-	NC_000009.12:g.6645348C>T	TOPMed
GLDC	P23378	p.Arg51Gly	rs1173661621	missense variant	-	NC_000009.12:g.6645349G>C	gnomAD
GLDC	P23378	p.Leu52Ile	rs1395595781	missense variant	-	NC_000009.12:g.6645346G>T	gnomAD
GLDC	P23378	p.Leu52Phe	rs1395595781	missense variant	-	NC_000009.12:g.6645346G>A	gnomAD
GLDC	P23378	p.Leu53Pro	rs536725659	missense variant	-	NC_000009.12:g.6645342A>G	1000Genomes
GLDC	P23378	p.Glu54Ter	rs1382501276	stop gained	-	NC_000009.12:g.6645340C>A	gnomAD
GLDC	P23378	p.Arg55Leu	rs1195896229	missense variant	-	NC_000009.12:g.6645336C>A	gnomAD
GLDC	P23378	p.Arg55Gly	rs755680488	missense variant	-	NC_000009.12:g.6645337G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu56Phe	rs374342418	missense variant	-	NC_000009.12:g.6645334G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro58Ser	rs780963698	missense variant	-	NC_000009.12:g.6645328G>A	ExAC,gnomAD
GLDC	P23378	p.Pro58His	rs1226360717	missense variant	-	NC_000009.12:g.6645327G>T	TOPMed
GLDC	P23378	p.Arg59Thr	RCV000049458	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645324C>G	ClinVar
GLDC	P23378	p.Arg59Thr	rs386833530	missense variant	-	NC_000009.12:g.6645324C>G	-
GLDC	P23378	p.Arg59Gly	rs967627463	missense variant	-	NC_000009.12:g.6645325T>C	TOPMed
GLDC	P23378	p.His60Arg	rs756931240	missense variant	-	NC_000009.12:g.6645321T>C	ExAC,gnomAD
GLDC	P23378	p.His60Asn	rs1348979927	missense variant	-	NC_000009.12:g.6645322G>T	gnomAD
GLDC	P23378	p.His60Leu	rs756931240	missense variant	-	NC_000009.12:g.6645321T>A	ExAC,gnomAD
GLDC	P23378	p.Asp61Glu	RCV000479525	missense variant	-	NC_000009.12:g.6645317G>T	ClinVar
GLDC	P23378	p.Asp61Glu	rs375497905	missense variant	-	NC_000009.12:g.6645317G>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp61Glu	rs375497905	missense variant	-	NC_000009.12:g.6645317G>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp62Glu	rs1462209032	missense variant	-	NC_000009.12:g.6645314G>C	TOPMed
GLDC	P23378	p.Asp62Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6645315T>A	NCI-TCGA
GLDC	P23378	p.Ala64Thr	rs141601131	missense variant	-	NC_000009.12:g.6645310C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala64Ser	RCV000526664	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645310C>A	ClinVar
GLDC	P23378	p.Ala64Ser	rs141601131	missense variant	-	NC_000009.12:g.6645310C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg65Leu	rs753246480	missense variant	-	NC_000009.12:g.6645306C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg65Gln	rs753246480	missense variant	-	NC_000009.12:g.6645306C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg65Trp	rs894866297	missense variant	-	NC_000009.12:g.6645307G>A	gnomAD
GLDC	P23378	p.Arg66Lys	rs1554652780	missense variant	-	NC_000009.12:g.6645302_6645303delinsTT	-
GLDC	P23378	p.Arg66Lys	rs765794334	missense variant	-	NC_000009.12:g.6645303C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg66Lys	RCV000539470	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645302_6645303delinsTT	ClinVar
GLDC	P23378	p.Arg66Thr	rs765794334	missense variant	-	NC_000009.12:g.6645303C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile68Val	rs1375760339	missense variant	-	NC_000009.12:g.6645298T>C	gnomAD
GLDC	P23378	p.Gly69Ser	rs955023601	missense variant	-	NC_000009.12:g.6645295C>T	TOPMed
GLDC	P23378	p.Pro70Leu	rs776730073	missense variant	-	NC_000009.12:g.6645291G>A	ExAC,gnomAD
GLDC	P23378	p.Gly71Trp	rs766474326	missense variant	-	NC_000009.12:g.6645289C>A	ExAC,gnomAD
GLDC	P23378	p.Asp72Gly	rs1404713643	missense variant	-	NC_000009.12:g.6645285T>C	TOPMed
GLDC	P23378	p.Asp74His	rs760898592	missense variant	-	NC_000009.12:g.6645280C>G	ExAC,gnomAD
GLDC	P23378	p.Gln75His	rs1420424361	missense variant	-	NC_000009.12:g.6645275C>G	gnomAD
GLDC	P23378	p.Arg76Thr	rs143358660	missense variant	-	NC_000009.12:g.6645273C>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu77Gly	rs569728662	missense variant	-	NC_000009.12:g.6645270T>C	TOPMed,gnomAD
GLDC	P23378	p.Glu77Asp	rs549637212	missense variant	-	NC_000009.12:g.6645269C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu77Asp	rs549637212	missense variant	-	NC_000009.12:g.6645269C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met78Ile	rs1282813808	missense variant	-	NC_000009.12:g.6645266C>T	TOPMed
GLDC	P23378	p.Met78Ile	rs1282813808	missense variant	-	NC_000009.12:g.6645266C>G	TOPMed
GLDC	P23378	p.Gln80His	rs750945530	missense variant	-	NC_000009.12:g.6645260C>A	gnomAD
GLDC	P23378	p.Gln80His	rs750945530	missense variant	-	NC_000009.12:g.6645260C>G	gnomAD
GLDC	P23378	p.Gln80Pro	rs769900058	missense variant	-	NC_000009.12:g.6645261T>G	ExAC,gnomAD
GLDC	P23378	p.Leu82Ser	rs386833559	missense variant	-	NC_000009.12:g.6645255A>G	gnomAD
GLDC	P23378	p.Leu82Trp	RCV000049487	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645255A>C	ClinVar
GLDC	P23378	p.Leu82Trp	rs386833559	missense variant	-	NC_000009.12:g.6645255A>C	gnomAD
GLDC	P23378	p.Leu82Ser	RCV000671778	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645255A>G	ClinVar
GLDC	P23378	p.Leu84Met	rs746606221	missense variant	-	NC_000009.12:g.6645250G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala85Val	rs758780401	missense variant	-	NC_000009.12:g.6645246G>A	ExAC
GLDC	P23378	p.Ala85Pro	rs777360615	missense variant	-	NC_000009.12:g.6645247C>G	ExAC
GLDC	P23378	p.Ser86Asn	rs1330595315	missense variant	-	NC_000009.12:g.6644691C>T	gnomAD
GLDC	P23378	p.Ile87Met	rs776700682	missense variant	-	NC_000009.12:g.6644687A>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp88Asn	RCV000638267	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6644686C>T	ClinVar
GLDC	P23378	p.Asp88Asn	rs770826242	missense variant	-	NC_000009.12:g.6644686C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp88Gly	rs760204566	missense variant	-	NC_000009.12:g.6644685T>C	ExAC,gnomAD
GLDC	P23378	p.Asp88Glu	rs1270530638	missense variant	-	NC_000009.12:g.6644684A>C	gnomAD
GLDC	P23378	p.Glu89Lys	rs772554461	missense variant	-	NC_000009.12:g.6644683C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu90Phe	rs747736821	missense variant	-	NC_000009.12:g.6644678C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu90Phe	RCV000638282	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6644678C>G	ClinVar
GLDC	P23378	p.Ile91Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6644676A>G	NCI-TCGA
GLDC	P23378	p.Glu92Lys	rs1325211020	missense variant	-	NC_000009.12:g.6644674C>T	gnomAD
GLDC	P23378	p.Thr94Ser	rs1441569703	missense variant	-	NC_000009.12:g.6644668T>A	gnomAD
GLDC	P23378	p.Thr94Met	rs1395946316	missense variant	-	NC_000009.12:g.6644667G>A	gnomAD
GLDC	P23378	p.Val95Phe	rs749710107	missense variant	-	NC_000009.12:g.6644665C>A	ExAC,gnomAD
GLDC	P23378	p.Val95Leu	rs749710107	missense variant	-	NC_000009.12:g.6644665C>G	ExAC,gnomAD
GLDC	P23378	p.Pro96Ser	rs780515572	missense variant	-	NC_000009.12:g.6644662G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro96Leu	rs756617299	missense variant	-	NC_000009.12:g.6644661G>A	ExAC,gnomAD
GLDC	P23378	p.Ala97Asp	rs917975796	missense variant	-	NC_000009.12:g.6644658G>T	TOPMed,gnomAD
GLDC	P23378	p.Ala97Val	rs917975796	missense variant	-	NC_000009.12:g.6644658G>A	TOPMed,gnomAD
GLDC	P23378	p.Asn98Asp	rs750964572	missense variant	-	NC_000009.12:g.6644656T>C	ExAC,gnomAD
GLDC	P23378	p.Arg100His	rs1470245998	missense variant	-	NC_000009.12:g.6644649C>T	gnomAD
GLDC	P23378	p.Pro104Thr	rs543718579	missense variant	-	NC_000009.12:g.6644638G>T	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Leu105Phe	rs759386821	missense variant	-	NC_000009.12:g.6644633C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Lys106Gln	COSM1109555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6644632T>G	NCI-TCGA Cosmic
GLDC	P23378	p.Lys106Glu	rs1216097144	missense variant	-	NC_000009.12:g.6644632T>C	TOPMed,gnomAD
GLDC	P23378	p.Met107Val	RCV000253432	missense variant	-	NC_000009.12:g.6644629T>C	ClinVar
GLDC	P23378	p.Met107Val	rs138454333	missense variant	-	NC_000009.12:g.6644629T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met107Leu	rs138454333	missense variant	-	NC_000009.12:g.6644629T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp109Asn	rs1302423093	missense variant	-	NC_000009.12:g.6644623C>T	gnomAD
GLDC	P23378	p.Pro110His	rs371491621	missense variant	-	NC_000009.12:g.6644619G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro110Ser	rs866641732	missense variant	-	NC_000009.12:g.6644620G>A	gnomAD
GLDC	P23378	p.Pro110Leu	rs371491621	missense variant	-	NC_000009.12:g.6644619G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val111Ile	rs1252011180	missense variant	-	NC_000009.12:g.6644617C>T	gnomAD
GLDC	P23378	p.Cys112Gly	rs1195908625	missense variant	-	NC_000009.12:g.6644614A>C	TOPMed,gnomAD
GLDC	P23378	p.Glu113Asp	rs1214901307	missense variant	-	NC_000009.12:g.6620315T>A	gnomAD
GLDC	P23378	p.Asn114Lys	rs1317471563	missense variant	-	NC_000009.12:g.6620312A>T	gnomAD
GLDC	P23378	p.Glu115Lys	COSM1173514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6620311C>T	NCI-TCGA Cosmic
GLDC	P23378	p.Ile116Val	rs1010145706	missense variant	-	NC_000009.12:g.6620308T>C	TOPMed,gnomAD
GLDC	P23378	p.Ile116Thr	rs954874598	missense variant	-	NC_000009.12:g.6620307A>G	TOPMed
GLDC	P23378	p.Leu117Phe	rs1407080794	missense variant	-	NC_000009.12:g.6620305G>A	TOPMed
GLDC	P23378	p.Ala118Val	rs747552331	missense variant	-	NC_000009.12:g.6620301G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala118Thr	rs1333702002	missense variant	-	NC_000009.12:g.6620302C>T	gnomAD
GLDC	P23378	p.Thr119Ile	rs1416262474	missense variant	-	NC_000009.12:g.6620298G>A	gnomAD
GLDC	P23378	p.Leu120Val	rs758562313	missense variant	-	NC_000009.12:g.6620296G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala122Val	rs748248885	missense variant	-	NC_000009.12:g.6620289G>A	ExAC
GLDC	P23378	p.Ala122Gly	rs748248885	missense variant	-	NC_000009.12:g.6620289G>C	ExAC
GLDC	P23378	p.Ile123Leu	rs370683363	missense variant	-	NC_000009.12:g.6620287T>G	ESP,ExAC,gnomAD
GLDC	P23378	p.Ile123Val	rs370683363	missense variant	-	NC_000009.12:g.6620287T>C	ESP,ExAC,gnomAD
GLDC	P23378	p.Ser125Asn	rs1311286011	missense variant	-	NC_000009.12:g.6620280C>T	gnomAD
GLDC	P23378	p.Trp130Ter	rs147066809	stop gained	-	NC_000009.12:g.6620265C>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser132Trp	RCV000049503	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620259G>C	ClinVar
GLDC	P23378	p.Ser132Leu	rs386833576	missense variant	-	NC_000009.12:g.6620259G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser132Trp	rs386833576	missense variant	-	NC_000009.12:g.6620259G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser132Ter	rs386833576	stop gained	-	NC_000009.12:g.6620259G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Tyr133His	rs1486136731	missense variant	-	NC_000009.12:g.6620257A>G	gnomAD
GLDC	P23378	p.Tyr133Cys	rs751373832	missense variant	-	NC_000009.12:g.6620256T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Tyr133Ser	rs751373832	missense variant	-	NC_000009.12:g.6620256T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly137Ser	rs774992052	missense variant	-	NC_000009.12:g.6620245C>T	ExAC,gnomAD
GLDC	P23378	p.Tyr138Phe	RCV000049504	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620241T>A	ClinVar
GLDC	P23378	p.Tyr138Ter	RCV000707474	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620242_6620243insTATT	ClinVar
GLDC	P23378	p.Tyr138Phe	rs386833577	missense variant	-	NC_000009.12:g.6620241T>A	-
GLDC	P23378	p.Tyr139Phe	rs141609010	missense variant	-	NC_000009.12:g.6620238T>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Tyr139Cys	rs141609010	missense variant	-	NC_000009.12:g.6620238T>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asn140Lys	rs368798241	missense variant	-	NC_000009.12:g.6620234G>C	gnomAD
GLDC	P23378	p.Cys141Arg	rs759792163	missense variant	-	NC_000009.12:g.6620233A>G	ExAC,gnomAD
GLDC	P23378	p.Cys141Tyr	RCV000761434	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620232C>T	ClinVar
GLDC	P23378	p.Pro144Gln	rs747464155	missense variant	-	NC_000009.12:g.6620223G>T	ExAC,gnomAD
GLDC	P23378	p.Pro144Thr	rs1215561178	missense variant	-	NC_000009.12:g.6620224G>T	TOPMed,gnomAD
GLDC	P23378	p.Thr146Lys	RCV000590638	missense variant	-	NC_000009.12:g.6620217G>T	ClinVar
GLDC	P23378	p.Thr146Met	rs376578742	missense variant	-	NC_000009.12:g.6620217G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr146Lys	rs376578742	missense variant	-	NC_000009.12:g.6620217G>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr146Met	rs376578742	missense variant	-	NC_000009.12:g.6620217G>A	NCI-TCGA
GLDC	P23378	p.Ile147Val	rs768963382	missense variant	-	NC_000009.12:g.6620215T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg149Trp	rs183024300	missense variant	-	NC_000009.12:g.6620209G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg149Gln	rs538431715	missense variant	-	NC_000009.12:g.6620208C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg149Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6620208C>A	NCI-TCGA
GLDC	P23378	p.Asn150Lys	COSM1462688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6620204G>T	NCI-TCGA Cosmic
GLDC	P23378	p.Asn150Thr	rs386833578	missense variant	-	NC_000009.12:g.6620205T>G	-
GLDC	P23378	p.Asn150Thr	RCV000049505	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620205T>G	ClinVar
GLDC	P23378	p.Glu153Ter	rs386833579	stop gained	-	NC_000009.12:g.6620197C>A	-
GLDC	P23378	p.Glu153Ter	RCV000049506	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620197C>A	ClinVar
GLDC	P23378	p.Asn154Lys	rs1328107891	missense variant	-	NC_000009.12:g.6620192G>T	TOPMed
GLDC	P23378	p.Ser155Leu	rs757052071	missense variant	-	NC_000009.12:g.6620190G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly156Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6620187C>A	NCI-TCGA
GLDC	P23378	p.Trp157Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6620184C>A	NCI-TCGA
GLDC	P23378	p.Ile158Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6610354A>G	NCI-TCGA
GLDC	P23378	p.Gln160Ter	rs1264725941	stop gained	-	NC_000009.12:g.6610349G>A	TOPMed
GLDC	P23378	p.Gln160Pro	rs1255044469	missense variant	-	NC_000009.12:g.6610348T>G	gnomAD
GLDC	P23378	p.Tyr161Cys	rs386833580	missense variant	-	NC_000009.12:g.6610345T>C	-
GLDC	P23378	p.Tyr161Cys	RCV000049507	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610345T>C	ClinVar
GLDC	P23378	p.Tyr164Ter	rs746124283	stop gained	-	NC_000009.12:g.6610335G>T	ExAC,gnomAD
GLDC	P23378	p.Pro166Ser	rs772947159	missense variant	-	NC_000009.12:g.6610331G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu167Ter	RCV000624546	nonsense	Inborn genetic diseases	NC_000009.12:g.6610328C>A	ClinVar
GLDC	P23378	p.Glu167Ter	rs191905539	stop gained	-	NC_000009.12:g.6610328C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val168Ala	rs1241332349	missense variant	-	NC_000009.12:g.6610324A>G	TOPMed,gnomAD
GLDC	P23378	p.Val168Met	rs936791052	missense variant	-	NC_000009.12:g.6610325C>T	TOPMed,gnomAD
GLDC	P23378	p.Ser169Pro	rs1356375715	missense variant	-	NC_000009.12:g.6610322A>G	gnomAD
GLDC	P23378	p.Ser169Cys	rs754495182	missense variant	-	NC_000009.12:g.6610321G>C	ExAC,gnomAD
GLDC	P23378	p.Ser169Pro	rs1356375715	missense variant	-	NC_000009.12:g.6610322A>G	NCI-TCGA
GLDC	P23378	p.Gly171Arg	rs553354006	missense variant	-	NC_000009.12:g.6610316C>T	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Gly171Arg	rs553354006	missense variant	-	NC_000009.12:g.6610316C>G	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Leu173Met	rs755787032	missense variant	-	NC_000009.12:g.6610310G>T	ExAC,gnomAD
GLDC	P23378	p.Leu173Pro	VAR_078777	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
GLDC	P23378	p.Glu174Lys	rs750123280	missense variant	-	NC_000009.12:g.6610307C>T	ExAC,gnomAD
GLDC	P23378	p.Glu174Asp	rs767863790	missense variant	-	NC_000009.12:g.6610305C>A	ExAC
GLDC	P23378	p.Glu174Gln	rs750123280	missense variant	-	NC_000009.12:g.6610307C>G	ExAC,gnomAD
GLDC	P23378	p.Leu176Ser	rs1458411946	missense variant	-	NC_000009.12:g.6610300A>G	gnomAD
GLDC	P23378	p.Leu176Phe	rs757566503	missense variant	-	NC_000009.12:g.6610299T>G	ExAC
GLDC	P23378	p.Leu177Ile	COSM6115756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6610298G>T	NCI-TCGA Cosmic
GLDC	P23378	p.Asn178Lys	rs375402770	missense variant	-	NC_000009.12:g.6610293G>C	ESP,ExAC,TOPMed
GLDC	P23378	p.Asn178Ser	rs1415039850	missense variant	-	NC_000009.12:g.6610294T>C	gnomAD
GLDC	P23378	p.Tyr179Ter	rs764559927	stop gained	-	NC_000009.12:g.6610290G>C	ExAC,gnomAD
GLDC	P23378	p.Tyr179His	COSM3907615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6610292A>G	NCI-TCGA Cosmic
GLDC	P23378	p.Gln180Arg	COSM3907614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6610288T>C	NCI-TCGA Cosmic
GLDC	P23378	p.Gln180Ter	rs762989914	stop gained	-	NC_000009.12:g.6610289G>A	ExAC,gnomAD
GLDC	P23378	p.Met182Val	rs541691467	missense variant	-	NC_000009.12:g.6610283T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met182Val	RCV000535326	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610283T>C	ClinVar
GLDC	P23378	p.Cys184Phe	rs1263123723	missense variant	-	NC_000009.12:g.6610276C>A	gnomAD
GLDC	P23378	p.Cys184Ser	rs369031015	missense variant	-	NC_000009.12:g.6610277A>T	ESP,TOPMed
GLDC	P23378	p.Cys184Trp	rs759699162	missense variant	-	NC_000009.12:g.6610275A>C	ExAC,gnomAD
GLDC	P23378	p.Asp185Gly	rs1272627675	missense variant	-	NC_000009.12:g.6610273T>C	gnomAD
GLDC	P23378	p.Asp185Asn	rs776847249	missense variant	-	NC_000009.12:g.6610274C>T	ExAC,gnomAD
GLDC	P23378	p.Thr187Ile	rs386833582	missense variant	-	NC_000009.12:g.6610267G>A	TOPMed,gnomAD
GLDC	P23378	p.Thr187Lys	RCV000049509	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610267G>T	ClinVar
GLDC	P23378	p.Thr187Arg	rs386833582	missense variant	-	NC_000009.12:g.6610267G>C	TOPMed,gnomAD
GLDC	P23378	p.Thr187Lys	rs386833582	missense variant	-	NC_000009.12:g.6610267G>T	TOPMed,gnomAD
GLDC	P23378	p.Gly188Arg	rs776741850	missense variant	-	NC_000009.12:g.6610265C>G	TOPMed
GLDC	P23378	p.Gly188Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6610264C>T	NCI-TCGA
GLDC	P23378	p.Met191Lys	rs1461429424	missense variant	-	NC_000009.12:g.6610255A>T	gnomAD
GLDC	P23378	p.Met191Val	rs1263133221	missense variant	-	NC_000009.12:g.6610256T>C	TOPMed
GLDC	P23378	p.Ala192Thr	rs774319185	missense variant	-	NC_000009.12:g.6610253C>T	ExAC,gnomAD
GLDC	P23378	p.Asn193Ser	rs555919940	missense variant	-	NC_000009.12:g.6610249T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala194Glu	rs1437194194	missense variant	-	NC_000009.12:g.6610246G>T	gnomAD
GLDC	P23378	p.Leu197Val	rs1461615694	missense variant	-	NC_000009.12:g.6610238G>C	gnomAD
GLDC	P23378	p.Leu197Val	RCV000547795	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610238G>C	ClinVar
GLDC	P23378	p.Asp198Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6610235C>T	NCI-TCGA
GLDC	P23378	p.Ala202Val	rs386833583	missense variant	-	NC_000009.12:g.6610222G>A	-
GLDC	P23378	p.Ala202Val	RCV000049510	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610222G>A	ClinVar
GLDC	P23378	p.Ala203Gly	rs755699030	missense variant	-	NC_000009.12:g.6610219G>C	ExAC,gnomAD
GLDC	P23378	p.Ala204Val	rs1190684061	missense variant	-	NC_000009.12:g.6610216G>A	gnomAD
GLDC	P23378	p.Ala204Ser	rs757620314	missense variant	-	NC_000009.12:g.6610217C>A	ExAC,gnomAD
GLDC	P23378	p.Ala204Thr	rs757620314	missense variant	-	NC_000009.12:g.6610217C>T	ExAC,gnomAD
GLDC	P23378	p.Glu205Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6610214C>T	NCI-TCGA
GLDC	P23378	p.Ala206Ser	rs751911205	missense variant	-	NC_000009.12:g.6610211C>A	ExAC,gnomAD
GLDC	P23378	p.Ala206Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6610211C>T	NCI-TCGA
GLDC	P23378	p.Leu207Val	RCV000528350	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610208G>C	ClinVar
GLDC	P23378	p.Leu207Met	rs142181803	missense variant	-	NC_000009.12:g.6610208G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu207Val	rs142181803	missense variant	-	NC_000009.12:g.6610208G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu207HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.6610207_6610208insGT	NCI-TCGA
GLDC	P23378	p.Gln208Lys	rs1163351205	missense variant	-	NC_000009.12:g.6610205G>T	TOPMed
GLDC	P23378	p.Gln208His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6610203C>A	NCI-TCGA
GLDC	P23378	p.Leu209Val	rs1425334247	missense variant	-	NC_000009.12:g.6610202G>C	TOPMed
GLDC	P23378	p.Tyr211His	rs375289229	missense variant	-	NC_000009.12:g.6610196A>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Tyr211Cys	rs139931025	missense variant	-	NC_000009.12:g.6610195T>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg212Lys	RCV000049584	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610192C>T	ClinVar
GLDC	P23378	p.Arg212Gly	rs1212968746	missense variant	-	NC_000009.12:g.6610193T>C	gnomAD
GLDC	P23378	p.Arg212Lys	rs386833584	missense variant	-	NC_000009.12:g.6610192C>T	ExAC,gnomAD
GLDC	P23378	p.Arg212Ile	rs386833584	missense variant	-	NC_000009.12:g.6610192C>A	ExAC,gnomAD
GLDC	P23378	p.His213Asn	rs1210682949	missense variant	-	NC_000009.12:g.6606668G>T	gnomAD
GLDC	P23378	p.His213Gln	rs1165779021	missense variant	-	NC_000009.12:g.6606666G>C	gnomAD
GLDC	P23378	p.His213Arg	rs1271498448	missense variant	-	NC_000009.12:g.6606667T>C	TOPMed
GLDC	P23378	p.His213Asn	RCV000540798	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606668G>T	ClinVar
GLDC	P23378	p.Asn214Ile	rs1488314062	missense variant	-	NC_000009.12:g.6606664T>A	TOPMed
GLDC	P23378	p.Lys215Thr	rs1281499479	missense variant	-	NC_000009.12:g.6606661T>G	gnomAD
GLDC	P23378	p.Arg216Gly	RCV000762552	missense variant	-	NC_000009.12:g.6606659T>C	ClinVar
GLDC	P23378	p.Arg216Gly	RCV000524696	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606659T>C	ClinVar
GLDC	P23378	p.Arg216Gly	rs140411475	missense variant	-	NC_000009.12:g.6606659T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg217Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6606656T>C	NCI-TCGA
GLDC	P23378	p.Phe219Ser	rs759551069	missense variant	-	NC_000009.12:g.6606649A>G	ExAC,gnomAD
GLDC	P23378	p.Val221Asp	rs1313892401	missense variant	-	NC_000009.12:g.6606643A>T	TOPMed,gnomAD
GLDC	P23378	p.Val221Ile	rs144043066	missense variant	-	NC_000009.12:g.6606644C>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val221Ala	rs1313892401	missense variant	-	NC_000009.12:g.6606643A>G	TOPMed,gnomAD
GLDC	P23378	p.Val221Phe	rs144043066	missense variant	-	NC_000009.12:g.6606644C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp222Val	rs746578643	missense variant	-	NC_000009.12:g.6606640T>A	ExAC,gnomAD
GLDC	P23378	p.Pro223Arg	rs201049516	missense variant	-	NC_000009.12:g.6606637G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg224His	rs28617412	missense variant	-	NC_000009.12:g.6606634C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg224Gly	rs755436133	missense variant	-	NC_000009.12:g.6606635G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg224Cys	rs755436133	missense variant	-	NC_000009.12:g.6606635G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg224His	RCV000518772	missense variant	-	NC_000009.12:g.6606634C>T	ClinVar
GLDC	P23378	p.His226Gln	rs12006003	missense variant	-	NC_000009.12:g.6606627G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gln228His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6606621C>A	NCI-TCGA
GLDC	P23378	p.Ala231Ser	rs1046550773	missense variant	-	NC_000009.12:g.6606614C>A	TOPMed
GLDC	P23378	p.Ala231Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6606613G>T	NCI-TCGA
GLDC	P23378	p.Val233Ala	RCV000329076	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606607A>G	ClinVar
GLDC	P23378	p.Val233Ala	rs140013612	missense variant	-	NC_000009.12:g.6606607A>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gln234Arg	rs776639131	missense variant	-	NC_000009.12:g.6606604T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gln234Arg	RCV000264550	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606604T>C	ClinVar
GLDC	P23378	p.Gln234Glu	rs150698281	missense variant	-	NC_000009.12:g.6606605G>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr235Ser	rs765805899	missense variant	-	NC_000009.12:g.6606601G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg236Ter	rs386833585	stop gained	-	NC_000009.12:g.6606599G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg236Ter	RCV000049511	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606599G>A	ClinVar
GLDC	P23378	p.Arg236Pro	rs772832052	missense variant	-	NC_000009.12:g.6606598C>G	ExAC,gnomAD
GLDC	P23378	p.Arg236Gly	rs386833585	missense variant	-	NC_000009.12:g.6606599G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg236Gln	rs772832052	missense variant	-	NC_000009.12:g.6606598C>T	ExAC,gnomAD
GLDC	P23378	p.Tyr239Asn	rs1344931491	missense variant	-	NC_000009.12:g.6605277A>T	TOPMed,gnomAD
GLDC	P23378	p.Tyr239Ter	rs1436586216	stop gained	-	NC_000009.12:g.6605275A>C	gnomAD
GLDC	P23378	p.Tyr239Cys	rs781364515	missense variant	-	NC_000009.12:g.6605276T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr240Ala	rs1174541100	missense variant	-	NC_000009.12:g.6605274T>C	TOPMed
GLDC	P23378	p.Gly241Val	rs1008397934	missense variant	-	NC_000009.12:g.6605270C>A	TOPMed,gnomAD
GLDC	P23378	p.Gly241Glu	rs1008397934	missense variant	-	NC_000009.12:g.6605270C>T	TOPMed,gnomAD
GLDC	P23378	p.Val242Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6605268C>T	NCI-TCGA
GLDC	P23378	p.Thr244Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6605261G>A	NCI-TCGA
GLDC	P23378	p.Pro249Leu	rs754710330	missense variant	-	NC_000009.12:g.6605246G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro249Ser	rs778202301	missense variant	-	NC_000009.12:g.6605247G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys250Trp	rs1377651939	missense variant	-	NC_000009.12:g.6605242A>C	gnomAD
GLDC	P23378	p.Met252Thr	rs766114667	missense variant	-	NC_000009.12:g.6605237A>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp253Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6605233G>T	NCI-TCGA
GLDC	P23378	p.Ser255Asn	rs184164954	missense variant	-	NC_000009.12:g.6605228C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly256Glu	rs1210528176	missense variant	-	NC_000009.12:g.6605225C>T	gnomAD
GLDC	P23378	p.Lys257Asn	rs1183336671	missense variant	-	NC_000009.12:g.6605221T>A	gnomAD
GLDC	P23378	p.Asp258Tyr	rs369719863	missense variant	-	NC_000009.12:g.6605220C>A	ESP,ExAC,gnomAD
GLDC	P23378	p.Val259Ile	rs766944621	missense variant	-	NC_000009.12:g.6605217C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val259Leu	rs766944621	missense variant	-	NC_000009.12:g.6605217C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser260Gly	rs751197838	missense variant	-	NC_000009.12:g.6605214T>C	ExAC,gnomAD
GLDC	P23378	p.Leu263Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6605203C>G	NCI-TCGA
GLDC	P23378	p.Phe264Leu	rs1554648121	missense variant	-	NC_000009.12:g.6605200G>C	-
GLDC	P23378	p.Gln265Ter	RCV000049512	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605200del	ClinVar
GLDC	P23378	p.Pro267Ala	RCV000674678	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605193G>C	ClinVar
GLDC	P23378	p.Pro267Leu	RCV000672714	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605192G>A	ClinVar
GLDC	P23378	p.Pro267Leu	rs138484426	missense variant	-	NC_000009.12:g.6605192G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro267Ala	rs1554648117	missense variant	-	NC_000009.12:g.6605193G>C	-
GLDC	P23378	p.Pro267Ala	rs1554648117	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6605193G>C	UniProt,dbSNP
GLDC	P23378	p.Pro267Ala	VAR_078778	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6605193G>C	UniProt
GLDC	P23378	p.Thr269Met	RCV000049513	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605186G>A	ClinVar
GLDC	P23378	p.Thr269Met	rs386833587	missense variant	-	NC_000009.12:g.6605186G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu270Ter	rs386833588	stop gained	-	NC_000009.12:g.6605184C>A	-
GLDC	P23378	p.Glu270Asp	rs760055824	missense variant	-	NC_000009.12:g.6605182C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu270Ter	RCV000049514	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605184C>A	ClinVar
GLDC	P23378	p.Gly271Arg	RCV000673663	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605181C>T	ClinVar
GLDC	P23378	p.Gly271Glu	rs1430370196	missense variant	-	NC_000009.12:g.6605180C>T	TOPMed
GLDC	P23378	p.Gly271Arg	rs1554648113	missense variant	-	NC_000009.12:g.6605181C>T	-
GLDC	P23378	p.Lys272Thr	rs566939288	missense variant	-	NC_000009.12:g.6605177T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Lys272Asn	COSM1490062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6605176C>G	NCI-TCGA Cosmic
GLDC	P23378	p.Lys272Arg	rs566939288	missense variant	-	NC_000009.12:g.6605177T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu274Lys	rs747139145	missense variant	-	NC_000009.12:g.6605172C>T	ExAC,gnomAD
GLDC	P23378	p.Asp275His	rs147497463	missense variant	-	NC_000009.12:g.6605169C>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Phe276Ser	rs967825860	missense variant	-	NC_000009.12:g.6605165A>G	TOPMed
GLDC	P23378	p.Thr277Met	rs1009395229	missense variant	-	NC_000009.12:g.6605162G>A	TOPMed,gnomAD
GLDC	P23378	p.Thr277Ser	rs372595899	missense variant	-	NC_000009.12:g.6605163T>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr277Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6605162G>T	NCI-TCGA
GLDC	P23378	p.Glu278Lys	rs779837711	missense variant	-	NC_000009.12:g.6605160C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu279Ile	rs998158526	missense variant	-	NC_000009.12:g.6605157G>T	TOPMed,gnomAD
GLDC	P23378	p.Val280Gly	rs750354076	missense variant	-	NC_000009.12:g.6605153A>C	ExAC,gnomAD
GLDC	P23378	p.Val280Met	rs1258949524	missense variant	-	NC_000009.12:g.6605154C>T	TOPMed,gnomAD
GLDC	P23378	p.Ala283Pro	RCV000049515	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605145C>G	ClinVar
GLDC	P23378	p.Ala283Pro	rs386833589	missense variant	-	NC_000009.12:g.6605145C>G	gnomAD
GLDC	P23378	p.His284Pro	rs1210767970	missense variant	-	NC_000009.12:g.6605141T>G	gnomAD
GLDC	P23378	p.His284Pro	RCV000674637	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605141T>G	ClinVar
GLDC	P23378	p.His284Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6605142G>A	NCI-TCGA
GLDC	P23378	p.Ser286Arg	rs1333032735	missense variant	-	NC_000009.12:g.6605134A>C	gnomAD
GLDC	P23378	p.Ser286Arg	COSM6183592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6605134A>T	NCI-TCGA Cosmic
GLDC	P23378	p.Gly287Ala	rs1223720659	missense variant	-	NC_000009.12:g.6605132C>G	TOPMed
GLDC	P23378	p.Gly287Trp	rs1291181951	missense variant	-	NC_000009.12:g.6605133C>A	gnomAD
GLDC	P23378	p.Ser288Cys	rs1273751465	missense variant	-	NC_000009.12:g.6604784T>A	gnomAD
GLDC	P23378	p.Ala290Val	rs534936420	missense variant	-	NC_000009.12:g.6604777G>A	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Ala290Thr	rs1436719669	missense variant	-	NC_000009.12:g.6604778C>T	TOPMed,gnomAD
GLDC	P23378	p.Cys291Phe	rs777632051	missense variant	-	NC_000009.12:g.6604774C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys291Gly	RCV000359296	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604775A>C	ClinVar
GLDC	P23378	p.Cys291Arg	RCV000588380	missense variant	-	NC_000009.12:g.6604775A>G	ClinVar
GLDC	P23378	p.Cys291Ser	rs777632051	missense variant	-	NC_000009.12:g.6604774C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys291Arg	rs141014950	missense variant	-	NC_000009.12:g.6604775A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys291Gly	rs141014950	missense variant	-	NC_000009.12:g.6604775A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr294Ser	rs1198233054	missense variant	-	NC_000009.12:g.6604765G>C	TOPMed
GLDC	P23378	p.Asp295Glu	rs1424489267	missense variant	-	NC_000009.12:g.6604761G>C	gnomAD
GLDC	P23378	p.Leu296Phe	RCV000669910	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604760G>A	ClinVar
GLDC	P23378	p.Leu296Arg	RCV000049517	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604759A>C	ClinVar
GLDC	P23378	p.Leu296Phe	rs200413149	missense variant	-	NC_000009.12:g.6604760G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu296Ile	rs200413149	missense variant	-	NC_000009.12:g.6604760G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu296Arg	rs386833591	missense variant	-	NC_000009.12:g.6604759A>C	-
GLDC	P23378	p.Leu297Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6604756A>G	NCI-TCGA
GLDC	P23378	p.Ala298Pro	rs778601135	missense variant	-	NC_000009.12:g.6604754C>G	ExAC,gnomAD
GLDC	P23378	p.Cys300Gly	rs1231450641	missense variant	-	NC_000009.12:g.6604748A>C	gnomAD
GLDC	P23378	p.Arg303Trp	rs753551054	missense variant	-	NC_000009.12:g.6604739T>A	ExAC,gnomAD
GLDC	P23378	p.Pro304Leu	rs1207147043	missense variant	-	NC_000009.12:g.6604735G>A	gnomAD
GLDC	P23378	p.Pro304Leu	RCV000670325	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604735G>A	ClinVar
GLDC	P23378	p.Pro305Thr	rs370964168	missense variant	-	NC_000009.12:g.6604733G>T	ESP,ExAC,gnomAD
GLDC	P23378	p.Pro305Thr	RCV000544724	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604733G>T	ClinVar
GLDC	P23378	p.Gly306Ter	rs756499002	stop gained	-	NC_000009.12:g.6604730C>A	ExAC,gnomAD
GLDC	P23378	p.Phe308Tyr	rs1219376788	missense variant	-	NC_000009.12:g.6604723A>T	gnomAD
GLDC	P23378	p.Phe308Leu	rs1346671845	missense variant	-	NC_000009.12:g.6604722A>C	gnomAD
GLDC	P23378	p.Gly309Val	rs750925978	missense variant	-	NC_000009.12:g.6604720C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val310Gly	rs1420790743	missense variant	-	NC_000009.12:g.6604717A>C	TOPMed
GLDC	P23378	p.Asp311Glu	rs767956460	missense variant	-	NC_000009.12:g.6604713G>T	ExAC,gnomAD
GLDC	P23378	p.Ile312Met	rs79057118	missense variant	-	NC_000009.12:g.6604710G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile312Thr	rs761921284	missense variant	-	NC_000009.12:g.6604711A>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile312Val	rs1351445046	missense variant	-	NC_000009.12:g.6604712T>C	TOPMed,gnomAD
GLDC	P23378	p.Ala313Gly	rs964305745	missense variant	-	NC_000009.12:g.6604708G>C	TOPMed
GLDC	P23378	p.Ala313Pro	RCV000049518	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604709C>G	ClinVar
GLDC	P23378	p.Ala313Thr	rs386833592	missense variant	-	NC_000009.12:g.6604709C>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala313Ser	rs386833592	missense variant	-	NC_000009.12:g.6604709C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala313Pro	rs386833592	missense variant	-	NC_000009.12:g.6604709C>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly315Ser	rs1292183482	missense variant	-	NC_000009.12:g.6604703C>T	gnomAD
GLDC	P23378	p.Gly315Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6604703C>A	NCI-TCGA
GLDC	P23378	p.Ser317Tyr	rs757165297	missense variant	-	NC_000009.12:g.6604696G>T	ExAC,gnomAD
GLDC	P23378	p.Ser317Cys	rs757165297	missense variant	-	NC_000009.12:g.6604696G>C	ExAC,gnomAD
GLDC	P23378	p.Gln318Ter	rs746831935	stop gained	-	NC_000009.12:g.6604694G>A	ExAC,gnomAD
GLDC	P23378	p.Phe320Cys	rs773173613	missense variant	-	NC_000009.12:g.6604687A>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Phe320Leu	rs771868469	missense variant	-	NC_000009.12:g.6604686A>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly321Arg	rs1184125501	missense variant	-	NC_000009.12:g.6604685C>T	gnomAD
GLDC	P23378	p.Val322Glu	COSM4929815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6604681A>T	NCI-TCGA Cosmic
GLDC	P23378	p.Leu324Val	rs778504810	missense variant	-	NC_000009.12:g.6604676G>C	ExAC,gnomAD
GLDC	P23378	p.Pro329Thr	rs386833593	missense variant	-	NC_000009.12:g.6604661G>T	-
GLDC	P23378	p.Pro329Thr	RCV000049519	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604661G>T	ClinVar
GLDC	P23378	p.His330Arg	rs1267445922	missense variant	-	NC_000009.12:g.6604657T>C	TOPMed
GLDC	P23378	p.Phe333Cys	rs1378917925	missense variant	-	NC_000009.12:g.6604648A>C	gnomAD
GLDC	P23378	p.Phe334Leu	RCV000323680	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604646A>G	ClinVar
GLDC	P23378	p.Phe334Leu	rs149133229	missense variant	-	NC_000009.12:g.6604646A>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala335Val	rs750791553	missense variant	-	NC_000009.12:g.6604642G>A	ExAC,gnomAD
GLDC	P23378	p.Ala335Ter	RCV000049444	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604649dup	ClinVar
GLDC	P23378	p.Arg337Gly	rs386833517	missense variant	-	NC_000009.12:g.6604637G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg337Ter	RCV000049445	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604637G>A	ClinVar
GLDC	P23378	p.Arg337Ter	rs386833517	stop gained	-	NC_000009.12:g.6604637G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg337Gln	rs138129131	missense variant	-	NC_000009.12:g.6604636C>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg337Gln	RCV000638281	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604636C>T	ClinVar
GLDC	P23378	p.Arg337Ter	RCV000404397	nonsense	-	NC_000009.12:g.6604637G>A	ClinVar
GLDC	P23378	p.Glu338Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.6604634C>A	NCI-TCGA
GLDC	P23378	p.Ser339Asn	rs1343291893	missense variant	-	NC_000009.12:g.6604630C>T	TOPMed,gnomAD
GLDC	P23378	p.Leu340Phe	rs563039693	missense variant	-	NC_000009.12:g.6604626C>G	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Arg342Lys	rs1161195341	missense variant	-	NC_000009.12:g.6604621C>T	TOPMed,gnomAD
GLDC	P23378	p.Met344Thr	rs1401267156	missense variant	-	NC_000009.12:g.6604615A>G	gnomAD
GLDC	P23378	p.Met344Ile	rs752892944	missense variant	-	NC_000009.12:g.6604614C>T	ExAC,gnomAD
GLDC	P23378	p.Met344Ile	rs752892944	missense variant	-	NC_000009.12:g.6604614C>G	ExAC,gnomAD
GLDC	P23378	p.Met344Ile	rs752892944	missense variant	-	NC_000009.12:g.6604614C>A	ExAC,gnomAD
GLDC	P23378	p.Pro345Thr	RCV000670628	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604613G>T	ClinVar
GLDC	P23378	p.Pro345Thr	rs373263202	missense variant	-	NC_000009.12:g.6604613G>T	ESP,ExAC,gnomAD
GLDC	P23378	p.Gly346Ala	rs772830263	missense variant	-	NC_000009.12:g.6604609C>G	ExAC,TOPMed
GLDC	P23378	p.Gly346Val	rs772830263	missense variant	-	NC_000009.12:g.6604609C>A	ExAC,TOPMed
GLDC	P23378	p.Arg347Ile	COSM261106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6604606C>A	NCI-TCGA Cosmic
GLDC	P23378	p.Arg347Gly	rs555359738	missense variant	-	NC_000009.12:g.6604607T>C	TOPMed
GLDC	P23378	p.Gly350Val	rs1465066546	missense variant	-	NC_000009.12:g.6604597C>A	gnomAD
GLDC	P23378	p.Gly350Arg	rs1187433701	missense variant	-	NC_000009.12:g.6604598C>T	gnomAD
GLDC	P23378	p.Thr352Arg	RCV000616020	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604591G>C	ClinVar
GLDC	P23378	p.Thr352Ter	RCV000049446	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604593del	ClinVar
GLDC	P23378	p.Thr352Arg	rs1554648060	missense variant	-	NC_000009.12:g.6604591G>C	-
GLDC	P23378	p.Thr352Ala	rs370409839	missense variant	-	NC_000009.12:g.6604592T>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp354Asn	rs1336417205	missense variant	-	NC_000009.12:g.6602204C>T	TOPMed,gnomAD
GLDC	P23378	p.Ala355Val	rs921808718	missense variant	-	NC_000009.12:g.6602200G>A	TOPMed
GLDC	P23378	p.Ala355Thr	rs1291866387	missense variant	-	NC_000009.12:g.6602201C>T	TOPMed
GLDC	P23378	p.Thr356Pro	rs531320127	missense variant	-	NC_000009.12:g.6602198T>G	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Thr356Ser	rs376612483	missense variant	-	NC_000009.12:g.6602197G>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly357Arg	rs941998596	missense variant	-	NC_000009.12:g.6602195C>T	TOPMed
GLDC	P23378	p.Glu359Gly	rs1432226462	missense variant	-	NC_000009.12:g.6602188T>C	gnomAD
GLDC	P23378	p.Val360Leu	rs373482451	missense variant	-	NC_000009.12:g.6602186C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val360Leu	rs373482451	missense variant	-	NC_000009.12:g.6602186C>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Tyr361His	rs1359587024	missense variant	-	NC_000009.12:g.6602183A>G	gnomAD
GLDC	P23378	p.Tyr361Cys	rs780954858	missense variant	-	NC_000009.12:g.6602182T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg362His	rs535771852	missense variant	-	NC_000009.12:g.6602179C>T	gnomAD
GLDC	P23378	p.Arg362Cys	rs10975674	missense variant	-	NC_000009.12:g.6602180G>A	ExAC,gnomAD
GLDC	P23378	p.Arg362Cys	RCV000670165	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602180G>A	ClinVar
GLDC	P23378	p.Ala364Gly	rs747411776	missense variant	-	NC_000009.12:g.6602173G>C	ExAC,gnomAD
GLDC	P23378	p.Gln366Arg	rs201333795	missense variant	-	NC_000009.12:g.6602167T>C	1000Genomes
GLDC	P23378	p.Gln366Ter	rs1254300059	stop gained	-	NC_000009.12:g.6602168G>A	TOPMed,gnomAD
GLDC	P23378	p.Thr367Ile	rs1183976692	missense variant	-	NC_000009.12:g.6602164G>A	TOPMed
GLDC	P23378	p.Thr367Ile	RCV000625944	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602164G>A	ClinVar
GLDC	P23378	p.Arg368Lys	COSM6115760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6602161C>T	NCI-TCGA Cosmic
GLDC	P23378	p.Glu369Asp	rs1417928767	missense variant	-	NC_000009.12:g.6602157C>G	TOPMed
GLDC	P23378	p.Gln370Arg	rs201678591	missense variant	-	NC_000009.12:g.6602155T>C	1000Genomes
GLDC	P23378	p.Gln370Lys	rs570097430	missense variant	-	NC_000009.12:g.6602156G>T	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Gln370Ter	rs570097430	stop gained	-	NC_000009.12:g.6602156G>A	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Gln370Ter	RCV000670163	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602156G>A	ClinVar
GLDC	P23378	p.His371Asp	rs386833519	missense variant	-	NC_000009.12:g.6602153G>C	-
GLDC	P23378	p.His371Asp	RCV000049447	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602153G>C	ClinVar
GLDC	P23378	p.Ile372Val	rs755156031	missense variant	-	NC_000009.12:g.6602150T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg373Gln	COSM1109551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6602146C>T	NCI-TCGA Cosmic
GLDC	P23378	p.Arg373Trp	RCV000666682	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602147G>A	ClinVar
GLDC	P23378	p.Arg373Trp	rs150171524	missense variant	-	NC_000009.12:g.6602147G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg373Trp	rs150171524	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6602147G>A	UniProt,dbSNP
GLDC	P23378	p.Arg373Trp	VAR_078780	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6602147G>A	UniProt
GLDC	P23378	p.Arg373Gly	rs150171524	missense variant	-	NC_000009.12:g.6602147G>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg374Lys	rs141065026	missense variant	-	NC_000009.12:g.6602143C>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp375Tyr	rs757089930	missense variant	-	NC_000009.12:g.6602141C>A	ExAC,gnomAD
GLDC	P23378	p.Lys376Glu	rs774093619	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6602138T>C	UniProt,dbSNP
GLDC	P23378	p.Lys376Glu	VAR_078781	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6602138T>C	UniProt
GLDC	P23378	p.Lys376Glu	rs774093619	missense variant	-	NC_000009.12:g.6602138T>C	TOPMed,gnomAD
GLDC	P23378	p.Lys376Thr	rs1300550278	missense variant	-	NC_000009.12:g.6602137T>G	gnomAD
GLDC	P23378	p.Lys376Gln	rs774093619	missense variant	-	NC_000009.12:g.6602138T>G	TOPMed,gnomAD
GLDC	P23378	p.Thr378Ala	rs1359244190	missense variant	-	NC_000009.12:g.6602132T>C	gnomAD
GLDC	P23378	p.Thr378Asn	rs764004792	missense variant	-	NC_000009.12:g.6602131G>T	ExAC,gnomAD
GLDC	P23378	p.Thr378Ile	rs764004792	missense variant	-	NC_000009.12:g.6602131G>A	ExAC,gnomAD
GLDC	P23378	p.Ser379Arg	rs762926339	missense variant	-	NC_000009.12:g.6602127G>C	ExAC
GLDC	P23378	p.Asn380Tyr	COSM6183594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6602126T>A	NCI-TCGA Cosmic
GLDC	P23378	p.Ile381Thr	rs775502762	missense variant	-	NC_000009.12:g.6602122A>G	ExAC,gnomAD
GLDC	P23378	p.Cys382Tyr	rs759133707	missense variant	-	NC_000009.12:g.6602119C>T	ExAC,gnomAD
GLDC	P23378	p.Cys382Tyr	RCV000638285	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602119C>T	ClinVar
GLDC	P23378	p.Thr383Ile	rs1473856167	missense variant	-	NC_000009.12:g.6602116G>A	gnomAD
GLDC	P23378	p.Gln385His	rs1200399836	missense variant	-	NC_000009.12:g.6602109C>G	gnomAD
GLDC	P23378	p.Gln385Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.6602111G>A	NCI-TCGA
GLDC	P23378	p.Ala386Thr	rs1320733320	missense variant	-	NC_000009.12:g.6595119C>T	gnomAD
GLDC	P23378	p.Ala386Val	rs1383581989	missense variant	-	NC_000009.12:g.6595118G>A	gnomAD
GLDC	P23378	p.Leu387Val	rs746083772	missense variant	-	NC_000009.12:g.6595116G>C	ExAC,gnomAD
GLDC	P23378	p.Leu387Phe	rs746083772	missense variant	-	NC_000009.12:g.6595116G>A	ExAC,gnomAD
GLDC	P23378	p.Ala389Glu	rs121964979	missense variant	-	NC_000009.12:g.6595109G>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala389Val	rs121964979	missense variant	-	NC_000009.12:g.6595109G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala389Val	RCV000482511	missense variant	-	NC_000009.12:g.6595109G>A	ClinVar
GLDC	P23378	p.Asn390His	rs1167275737	missense variant	-	NC_000009.12:g.6595107T>G	gnomAD
GLDC	P23378	p.Met391Val	rs1448869197	missense variant	-	NC_000009.12:g.6595104T>C	gnomAD
GLDC	P23378	p.Met391Thr	rs754883123	missense variant	-	NC_000009.12:g.6595103A>G	ExAC,gnomAD
GLDC	P23378	p.Ala392Thr	rs753719536	missense variant	-	NC_000009.12:g.6595101C>T	ExAC,gnomAD
GLDC	P23378	p.Ala392Ter	RCV000049448	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6595100del	ClinVar
GLDC	P23378	p.Ala393Gly	rs199537737	missense variant	-	NC_000009.12:g.6595097G>C	ExAC,gnomAD
GLDC	P23378	p.Met394Leu	rs760240698	missense variant	-	NC_000009.12:g.6595095T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met394Lys	rs750059059	missense variant	-	NC_000009.12:g.6595094A>T	ExAC
GLDC	P23378	p.Met394Val	rs760240698	missense variant	-	NC_000009.12:g.6595095T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met394Ile	rs1249681861	missense variant	-	NC_000009.12:g.6595093C>T	TOPMed
GLDC	P23378	p.Phe395Val	rs767200188	missense variant	-	NC_000009.12:g.6595092A>C	ExAC
GLDC	P23378	p.Phe395Leu	rs767200188	missense variant	-	NC_000009.12:g.6595092A>G	ExAC
GLDC	P23378	p.Phe395Leu	RCV000670162	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6595092A>G	ClinVar
GLDC	P23378	p.Ala396Val	rs1049414112	missense variant	-	NC_000009.12:g.6595088G>A	gnomAD
GLDC	P23378	p.Ala396Glu	rs1049414112	missense variant	-	NC_000009.12:g.6595088G>T	gnomAD
GLDC	P23378	p.Ile397Asn	rs761405105	missense variant	-	NC_000009.12:g.6595085A>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile397Val	rs1472408730	missense variant	-	NC_000009.12:g.6595086T>C	TOPMed
GLDC	P23378	p.Tyr398Ser	rs774729912	missense variant	-	NC_000009.12:g.6595082T>G	ExAC,gnomAD
GLDC	P23378	p.Tyr398Ter	rs1226098656	stop gained	-	NC_000009.12:g.6595081G>T	gnomAD
GLDC	P23378	p.Tyr398Ter	RCV000670150	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6595081G>T	ClinVar
GLDC	P23378	p.His399Arg	rs1297392549	missense variant	-	NC_000009.12:g.6595079T>C	TOPMed,gnomAD
GLDC	P23378	p.Ser401Phe	COSM3780041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6595073G>A	NCI-TCGA Cosmic
GLDC	P23378	p.Ser401Tyr	COSM3716326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6595073G>T	NCI-TCGA Cosmic
GLDC	P23378	p.His402Gln	rs776207334	missense variant	-	NC_000009.12:g.6595069A>T	ExAC
GLDC	P23378	p.His402Leu	rs763451428	missense variant	-	NC_000009.12:g.6595070T>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.His402Arg	rs763451428	missense variant	-	NC_000009.12:g.6595070T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.His402Pro	rs763451428	missense variant	-	NC_000009.12:g.6595070T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.His402Tyr	rs1340780517	missense variant	-	NC_000009.12:g.6595071G>A	gnomAD
GLDC	P23378	p.Gly403Trp	rs769971731	missense variant	-	NC_000009.12:g.6595068C>A	ExAC,gnomAD
GLDC	P23378	p.Gly403Glu	rs745985295	missense variant	-	NC_000009.12:g.6595067C>T	ExAC,gnomAD
GLDC	P23378	p.Leu404Val	rs781450542	missense variant	-	NC_000009.12:g.6595065G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu405Gly	rs1387648444	missense variant	-	NC_000009.12:g.6595061T>C	gnomAD
GLDC	P23378	p.His406Asn	rs1443091138	missense variant	-	NC_000009.12:g.6595059G>T	TOPMed,gnomAD
GLDC	P23378	p.Ile407Val	rs1306671848	missense variant	-	NC_000009.12:g.6595056T>C	gnomAD
GLDC	P23378	p.Ala408Val	rs747206264	missense variant	-	NC_000009.12:g.6595052G>A	ExAC,gnomAD
GLDC	P23378	p.Ala408Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6595052G>T	NCI-TCGA
GLDC	P23378	p.Arg409Trp	COSM3926863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6595050T>A	NCI-TCGA Cosmic
GLDC	P23378	p.Arg409Ser	rs778700604	missense variant	-	NC_000009.12:g.6595048C>G	ExAC,gnomAD
GLDC	P23378	p.Arg410Lys	RCV000299139	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6595046C>T	ClinVar
GLDC	P23378	p.Arg410Ser	rs780018765	missense variant	-	NC_000009.12:g.6595045C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg410Lys	rs144090917	missense variant	-	NC_000009.12:g.6595046C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg410Thr	rs144090917	missense variant	-	NC_000009.12:g.6595046C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val411Ile	rs1377345819	missense variant	-	NC_000009.12:g.6595044C>T	gnomAD
GLDC	P23378	p.His412Gln	rs755595064	missense variant	-	NC_000009.12:g.6595039A>T	ExAC,gnomAD
GLDC	P23378	p.His412Leu	rs1294232438	missense variant	-	NC_000009.12:g.6595040T>A	gnomAD
GLDC	P23378	p.His412IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.6595042T>-	NCI-TCGA
GLDC	P23378	p.Asn413Tyr	rs749897689	missense variant	-	NC_000009.12:g.6595038T>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala414Thr	rs767038871	missense variant	-	NC_000009.12:g.6595035C>T	ExAC,gnomAD
GLDC	P23378	p.Thr415Ser	rs1040825750	missense variant	-	NC_000009.12:g.6595031G>C	gnomAD
GLDC	P23378	p.Leu418Phe	rs940157961	missense variant	-	NC_000009.12:g.6595021C>G	gnomAD
GLDC	P23378	p.Ser419Ter	rs1227030484	stop gained	-	NC_000009.12:g.6595019G>C	TOPMed
GLDC	P23378	p.Glu420Gln	rs751178133	missense variant	-	NC_000009.12:g.6595017C>G	ExAC,gnomAD
GLDC	P23378	p.Gly421Asp	rs1339899747	missense variant	-	NC_000009.12:g.6592990C>T	gnomAD
GLDC	P23378	p.Leu422Ile	rs1554647026	missense variant	-	NC_000009.12:g.6592988G>T	-
GLDC	P23378	p.Leu422Ile	RCV000670629	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592988G>T	ClinVar
GLDC	P23378	p.Lys423Arg	rs140307095	missense variant	-	NC_000009.12:g.6592984T>C	ESP,ExAC
GLDC	P23378	p.Arg424Ter	RCV000049449	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592982G>A	ClinVar
GLDC	P23378	p.Arg424Ter	rs386833521	stop gained	-	NC_000009.12:g.6592982G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gln428His	rs1158717915	missense variant	-	NC_000009.12:g.6592968T>G	TOPMed,gnomAD
GLDC	P23378	p.Leu429Phe	rs760051537	missense variant	-	NC_000009.12:g.6592967G>A	ExAC,gnomAD
GLDC	P23378	p.Leu429Ter	RCV000049450	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592966_6592967insTTTG	ClinVar
GLDC	P23378	p.Gln430His	rs1408480389	missense variant	-	NC_000009.12:g.6592962C>G	gnomAD
GLDC	P23378	p.His431Arg	rs1471796607	missense variant	-	NC_000009.12:g.6592960T>C	gnomAD
GLDC	P23378	p.His431Tyr	rs777341114	missense variant	-	NC_000009.12:g.6592961G>A	ExAC,gnomAD
GLDC	P23378	p.Asp432Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6592958C>A	NCI-TCGA
GLDC	P23378	p.Leu433Arg	rs760713573	missense variant	-	NC_000009.12:g.6592954A>C	ExAC,gnomAD
GLDC	P23378	p.Phe434Leu	COSM1109550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6592950G>T	NCI-TCGA Cosmic
GLDC	P23378	p.Phe434Ser	rs1265788933	missense variant	-	NC_000009.12:g.6592951A>G	gnomAD
GLDC	P23378	p.Phe435Leu	rs1207723641	missense variant	-	NC_000009.12:g.6592949A>G	gnomAD
GLDC	P23378	p.Asp436Asn	rs1230188107	missense variant	-	NC_000009.12:g.6592946C>T	TOPMed
GLDC	P23378	p.Asp436His	COSM1314874	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6592946C>G	NCI-TCGA Cosmic
GLDC	P23378	p.Leu438Phe	rs1286813560	missense variant	-	NC_000009.12:g.6592938C>G	gnomAD
GLDC	P23378	p.Lys439Asn	rs151163582	missense variant	-	NC_000009.12:g.6592935C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile440Asn	RCV000049451	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592933A>T	ClinVar
GLDC	P23378	p.Ile440Met	rs1356340685	missense variant	-	NC_000009.12:g.6592932A>C	gnomAD
GLDC	P23378	p.Ile440Asn	rs386833523	missense variant	-	NC_000009.12:g.6592933A>T	-
GLDC	P23378	p.Gln441His	rs1062458	missense variant	-	NC_000009.12:g.6592929C>A	ExAC,gnomAD
GLDC	P23378	p.Gln441His	rs1062458	missense variant	-	NC_000009.12:g.6592929C>G	ExAC,gnomAD
GLDC	P23378	p.Gln441Glu	rs772148721	missense variant	-	NC_000009.12:g.6592931G>C	ExAC,gnomAD
GLDC	P23378	p.Gly443Asp	rs769583276	missense variant	-	NC_000009.12:g.6592924C>T	ExAC,TOPMed
GLDC	P23378	p.Cys444Tyr	rs142099123	missense variant	-	NC_000009.12:g.6592921C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys444Tyr	RCV000541448	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592921C>T	ClinVar
GLDC	P23378	p.Ser445Pro	rs756770984	missense variant	-	NC_000009.12:g.6592919A>G	ExAC
GLDC	P23378	p.Val446Ala	rs746461979	missense variant	-	NC_000009.12:g.6592915A>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Lys447Met	rs1161073883	missense variant	-	NC_000009.12:g.6592912T>A	gnomAD
GLDC	P23378	p.Glu448Gln	rs777365335	missense variant	-	NC_000009.12:g.6592910C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu448Asp	rs758064858	missense variant	-	NC_000009.12:g.6592908C>A	ExAC,gnomAD
GLDC	P23378	p.Glu448Gly	rs1051937256	missense variant	-	NC_000009.12:g.6592909T>C	gnomAD
GLDC	P23378	p.Glu448Ter	rs777365335	stop gained	-	NC_000009.12:g.6592910C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu448Ter	RCV000669887	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592910C>A	ClinVar
GLDC	P23378	p.Val449Ala	rs1421944290	missense variant	-	NC_000009.12:g.6592906A>G	TOPMed
GLDC	P23378	p.Leu450Phe	rs752401089	missense variant	-	NC_000009.12:g.6592902C>G	ExAC
GLDC	P23378	p.Gly451Val	rs765688819	missense variant	-	NC_000009.12:g.6592900C>A	ExAC,gnomAD
GLDC	P23378	p.Arg452Lys	rs754371399	missense variant	-	NC_000009.12:g.6592897C>T	ExAC,gnomAD
GLDC	P23378	p.Ala453Ser	rs1057515607	missense variant	-	NC_000009.12:g.6592895C>A	-
GLDC	P23378	p.Ala453Ser	RCV000390576	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592895C>A	ClinVar
GLDC	P23378	p.Ala454Thr	rs761279734	missense variant	-	NC_000009.12:g.6592892C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala454Pro	rs761279734	missense variant	-	NC_000009.12:g.6592892C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala454Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6592892C>A	NCI-TCGA
GLDC	P23378	p.Gln455His	rs1451402874	missense variant	-	NC_000009.12:g.6592887C>G	gnomAD
GLDC	P23378	p.Arg456Gln	rs767652664	missense variant	-	NC_000009.12:g.6592885C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg456Trp	rs773119895	missense variant	-	NC_000009.12:g.6592886G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile458Phe	rs932101631	missense variant	-	NC_000009.12:g.6592880T>A	TOPMed
GLDC	P23378	p.Arg461Gln	RCV000049452	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592870C>T	ClinVar
GLDC	P23378	p.Arg461Trp	RCV000667293	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592871G>A	ClinVar
GLDC	P23378	p.Arg461Gln	rs386833524	missense variant	-	NC_000009.12:g.6592870C>T	ExAC,gnomAD
GLDC	P23378	p.Arg461Trp	rs761957837	missense variant	-	NC_000009.12:g.6592871G>A	ExAC,gnomAD
GLDC	P23378	p.Arg461Trp	rs761957837	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6592871G>A	UniProt,dbSNP
GLDC	P23378	p.Arg461Trp	VAR_078782	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6592871G>A	UniProt
GLDC	P23378	p.Leu462Ile	rs73400312	missense variant	-	NC_000009.12:g.6592868G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu462Arg	rs776518965	missense variant	-	NC_000009.12:g.6592867A>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu462Val	rs73400312	missense variant	-	NC_000009.12:g.6592868G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu462Val	RCV000711813	missense variant	-	NC_000009.12:g.6592868G>C	ClinVar
GLDC	P23378	p.Phe463Leu	rs1319956650	missense variant	-	NC_000009.12:g.6592865A>G	TOPMed
GLDC	P23378	p.Gly466Asp	rs770724054	missense variant	-	NC_000009.12:g.6592855C>T	ExAC,gnomAD
GLDC	P23378	p.Gly466Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6592856C>A	NCI-TCGA
GLDC	P23378	p.Gly466Ser	rs1037835616	missense variant	-	NC_000009.12:g.6592856C>T	TOPMed
GLDC	P23378	p.Thr467Arg	rs777078850	missense variant	-	NC_000009.12:g.6592852G>C	ExAC,gnomAD
GLDC	P23378	p.Thr467Pro	rs1378733033	missense variant	-	NC_000009.12:g.6592853T>G	gnomAD
GLDC	P23378	p.Leu468Phe	rs756569757	missense variant	-	NC_000009.12:g.6592223G>A	ExAC,gnomAD
GLDC	P23378	p.Ile470Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6592217T>G	NCI-TCGA
GLDC	P23378	p.Glu474Lys	RCV000517504	missense variant	-	NC_000009.12:g.6592205C>T	ClinVar
GLDC	P23378	p.Glu474Lys	rs1554646962	missense variant	-	NC_000009.12:g.6592205C>T	-
GLDC	P23378	p.Thr475Ile	rs750883330	missense variant	-	NC_000009.12:g.6592201G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr475Ile	RCV000311863	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592201G>A	ClinVar
GLDC	P23378	p.Val476Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6592198A>G	NCI-TCGA
GLDC	P23378	p.Asn477Ser	rs372136194	missense variant	-	NC_000009.12:g.6592195T>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asn477Ile	rs372136194	missense variant	-	NC_000009.12:g.6592195T>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu478Ter	rs1332097221	stop gained	-	NC_000009.12:g.6592193C>A	TOPMed
GLDC	P23378	p.Glu478Gly	rs751588571	missense variant	-	NC_000009.12:g.6592192T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu478Ala	rs751588571	missense variant	-	NC_000009.12:g.6592192T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp480ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.6592187_6592188insT	NCI-TCGA
GLDC	P23378	p.Leu481Val	rs764170083	missense variant	-	NC_000009.12:g.6592184G>C	ExAC,gnomAD
GLDC	P23378	p.Asp482Glu	rs201147701	missense variant	-	NC_000009.12:g.6592179G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp482Ter	RCV000049454	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592182dup	ClinVar
GLDC	P23378	p.Asp482Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6592181C>A	NCI-TCGA
GLDC	P23378	p.Asp483Tyr	rs753029511	missense variant	-	NC_000009.12:g.6592178C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp483Asn	rs753029511	missense variant	-	NC_000009.12:g.6592178C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu484Phe	rs766071661	missense variant	-	NC_000009.12:g.6592173C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu485Phe	rs1406438579	missense variant	-	NC_000009.12:g.6592170C>A	gnomAD
GLDC	P23378	p.Trp486Cys	rs1178162086	missense variant	-	NC_000009.12:g.6592167C>G	gnomAD
GLDC	P23378	p.Gly489Ala	rs767519430	missense variant	-	NC_000009.12:g.6592159C>G	ExAC,gnomAD
GLDC	P23378	p.Gly489Asp	rs767519430	missense variant	-	NC_000009.12:g.6592159C>T	ExAC,gnomAD
GLDC	P23378	p.Gly489Cys	rs773250428	missense variant	-	NC_000009.12:g.6592160C>A	ExAC,gnomAD
GLDC	P23378	p.Cys490Trp	rs1183108459	missense variant	-	NC_000009.12:g.6592155A>C	gnomAD
GLDC	P23378	p.Cys490Tyr	rs1233674671	missense variant	-	NC_000009.12:g.6592156C>T	TOPMed
GLDC	P23378	p.Glu491Asp	rs761867336	missense variant	-	NC_000009.12:g.6592152C>G	ExAC,gnomAD
GLDC	P23378	p.Ser492Leu	rs1315965351	missense variant	-	NC_000009.12:g.6592150G>A	TOPMed
GLDC	P23378	p.Ser492Thr	rs773943678	missense variant	-	NC_000009.12:g.6592151A>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser493Phe	rs1197486727	missense variant	-	NC_000009.12:g.6592147G>A	TOPMed
GLDC	P23378	p.Glu495Gln	RCV000638276	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589292C>G	ClinVar
GLDC	P23378	p.Glu495Gln	rs1554646734	missense variant	-	NC_000009.12:g.6589292C>G	-
GLDC	P23378	p.Leu496Pro	rs778298825	missense variant	-	NC_000009.12:g.6589288A>G	ExAC,gnomAD
GLDC	P23378	p.Val497Phe	rs1389059785	missense variant	-	NC_000009.12:g.6589286C>A	gnomAD
GLDC	P23378	p.Ala498Thr	rs758374339	missense variant	-	NC_000009.12:g.6589283C>T	ExAC,gnomAD
GLDC	P23378	p.Ala498Pro	COSM74754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6589283C>G	NCI-TCGA Cosmic
GLDC	P23378	p.Met501Val	rs748216955	missense variant	-	NC_000009.12:g.6589274T>C	ExAC,gnomAD
GLDC	P23378	p.Gly502Ala	rs368393226	missense variant	-	NC_000009.12:g.6589270C>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly502Val	rs368393226	missense variant	-	NC_000009.12:g.6589270C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu503Ala	rs201890453	missense variant	-	NC_000009.12:g.6589267T>G	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu503Asp	rs1195606936	missense variant	-	NC_000009.12:g.6589266C>A	gnomAD
GLDC	P23378	p.Glu503Ala	RCV000638288	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589267T>G	ClinVar
GLDC	P23378	p.Glu504Gln	rs1038321056	missense variant	-	NC_000009.12:g.6589265C>G	TOPMed,gnomAD
GLDC	P23378	p.Cys505Tyr	rs373917341	missense variant	-	NC_000009.12:g.6589261C>T	ESP,TOPMed
GLDC	P23378	p.Arg506Thr	rs754119942	missense variant	-	NC_000009.12:g.6589258C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg506Thr	RCV000638277	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589258C>G	ClinVar
GLDC	P23378	p.Gly507Arg	rs1229101372	missense variant	-	NC_000009.12:g.6589256C>G	gnomAD
GLDC	P23378	p.Gly507Asp	rs766029500	missense variant	-	NC_000009.12:g.6589255C>T	gnomAD
GLDC	P23378	p.Pro509Ala	rs557412758	missense variant	-	NC_000009.12:g.6589250G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro509Ser	rs557412758	missense variant	-	NC_000009.12:g.6589250G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro509Ala	RCV000554267	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589250G>C	ClinVar
GLDC	P23378	p.Ser511Cys	rs1338200936	missense variant	-	NC_000009.12:g.6589243G>C	gnomAD
GLDC	P23378	p.Val512Leu	rs751521889	missense variant	-	NC_000009.12:g.6589241C>G	ExAC,gnomAD
GLDC	P23378	p.Phe513Leu	rs762831617	missense variant	-	NC_000009.12:g.6589236G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Lys514Asn	rs565333481	missense variant	-	NC_000009.12:g.6589233C>G	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Arg515Ser	rs121964976	missense variant	-	NC_000009.12:g.6589230C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg515Ser	rs121964976	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6589230C>G	UniProt,dbSNP
GLDC	P23378	p.Arg515Ser	VAR_016851	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6589230C>G	UniProt
GLDC	P23378	p.Arg515Ser	RCV000449527	missense variant	Obesity (EO Obesity)	NC_000009.12:g.6589230C>G	ClinVar
GLDC	P23378	p.Arg515Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6589231C>A	NCI-TCGA
GLDC	P23378	p.Ser517Asn	rs1368071318	missense variant	-	NC_000009.12:g.6589225C>T	gnomAD
GLDC	P23378	p.Pro518Arg	rs761064507	missense variant	-	NC_000009.12:g.6589222G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro518Gln	rs761064507	missense variant	-	NC_000009.12:g.6589222G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro518Leu	rs761064507	missense variant	-	NC_000009.12:g.6589222G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro518Ala	rs776323083	missense variant	-	NC_000009.12:g.6589223G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro518Gln	RCV000350697	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589222G>T	ClinVar
GLDC	P23378	p.Phe519Leu	COSM1109548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6589220A>G	NCI-TCGA Cosmic
GLDC	P23378	p.Thr521Ser	rs1464777902	missense variant	-	NC_000009.12:g.6589214T>A	gnomAD
GLDC	P23378	p.Gln523Glu	rs199711131	missense variant	-	NC_000009.12:g.6589208G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val524Met	rs751362463	missense variant	-	NC_000009.12:g.6589205C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val524Leu	rs751362463	missense variant	-	NC_000009.12:g.6589205C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val524Leu	RCV000673924	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589205C>G	ClinVar
GLDC	P23378	p.Asn526Ser	rs1273154402	missense variant	-	NC_000009.12:g.6589198T>C	gnomAD
GLDC	P23378	p.Asn526His	rs898444750	missense variant	-	NC_000009.12:g.6589199T>G	TOPMed,gnomAD
GLDC	P23378	p.Ser527Arg	rs758288549	missense variant	-	NC_000009.12:g.6589196T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser527Thr	RCV000704561	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589195C>G	ClinVar
GLDC	P23378	p.Ser527Gly	rs758288549	missense variant	-	NC_000009.12:g.6589196T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser527Asn	rs1247180998	missense variant	-	NC_000009.12:g.6589195C>T	TOPMed
GLDC	P23378	p.His529Tyr	rs770064608	missense variant	-	NC_000009.12:g.6588698G>A	ExAC,gnomAD
GLDC	P23378	p.Thr532Arg	rs386833527	missense variant	-	NC_000009.12:g.6588688G>C	gnomAD
GLDC	P23378	p.Thr532Arg	RCV000049455	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588688G>C	ClinVar
GLDC	P23378	p.Thr532Ile	rs386833527	missense variant	-	NC_000009.12:g.6588688G>A	gnomAD
GLDC	P23378	p.Thr532Ala	rs746088689	missense variant	-	NC_000009.12:g.6588689T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asn533Ser	rs200280793	missense variant	-	NC_000009.12:g.6588685T>C	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Asn533Tyr	rs386833528	missense variant	-	NC_000009.12:g.6588686T>A	-
GLDC	P23378	p.Asn533Tyr	RCV000049456	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588686T>A	ClinVar
GLDC	P23378	p.Ile534Val	rs1472951334	missense variant	-	NC_000009.12:g.6588683T>C	gnomAD
GLDC	P23378	p.Ile534Met	rs201758383	missense variant	-	NC_000009.12:g.6588681A>C	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Arg536Trp	rs1286882965	missense variant	-	NC_000009.12:g.6588677G>A	TOPMed,gnomAD
GLDC	P23378	p.Arg536Trp	RCV000670145	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588677G>A	ClinVar
GLDC	P23378	p.Arg536Gln	rs747853668	missense variant	-	NC_000009.12:g.6588676C>T	ExAC,gnomAD
GLDC	P23378	p.Tyr537Cys	rs1190799364	missense variant	-	NC_000009.12:g.6588673T>C	TOPMed,gnomAD
GLDC	P23378	p.Met538Ile	rs778697867	missense variant	-	NC_000009.12:g.6588669C>T	ExAC,gnomAD
GLDC	P23378	p.Met538Ile	rs778697867	missense variant	-	NC_000009.12:g.6588669C>G	ExAC,gnomAD
GLDC	P23378	p.Met538Leu	rs950763757	missense variant	-	NC_000009.12:g.6588671T>A	TOPMed,gnomAD
GLDC	P23378	p.Met538Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6588670A>G	NCI-TCGA
GLDC	P23378	p.Lys540Gln	RCV000544389	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588665T>G	ClinVar
GLDC	P23378	p.Lys540Gln	rs140516872	missense variant	-	NC_000009.12:g.6588665T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Lys540Asn	rs749226070	missense variant	-	NC_000009.12:g.6588663T>A	ExAC,gnomAD
GLDC	P23378	p.Asn543Ser	rs755682957	missense variant	-	NC_000009.12:g.6588655T>C	ExAC,gnomAD
GLDC	P23378	p.Asp545His	rs1248573767	missense variant	-	NC_000009.12:g.6588650C>G	gnomAD
GLDC	P23378	p.Ser547Cys	rs1320151906	missense variant	-	NC_000009.12:g.6588643G>C	gnomAD
GLDC	P23378	p.Ser547Cys	RCV000694987	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588643G>C	ClinVar
GLDC	P23378	p.Leu548Val	rs1554646653	missense variant	-	NC_000009.12:g.6588641G>C	-
GLDC	P23378	p.Leu548Val	RCV000666420	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588641G>C	ClinVar
GLDC	P23378	p.Leu548Pro	VAR_078783	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
GLDC	P23378	p.His550Tyr	rs767119933	missense variant	-	NC_000009.12:g.6588635G>A	ExAC,gnomAD
GLDC	P23378	p.His550Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6588634T>C	NCI-TCGA
GLDC	P23378	p.Ser551Ile	rs751822565	missense variant	-	NC_000009.12:g.6588631C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser551Ile	RCV000670627	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588631C>A	ClinVar
GLDC	P23378	p.Met552Val	RCV000049457	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588629T>C	ClinVar
GLDC	P23378	p.Met552Val	rs386833529	missense variant	-	NC_000009.12:g.6588629T>C	-
GLDC	P23378	p.Ile553Met	rs763489615	missense variant	-	NC_000009.12:g.6588624A>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile553Val	rs764568781	missense variant	-	NC_000009.12:g.6588626T>C	ExAC,gnomAD
GLDC	P23378	p.Pro554Leu	rs1244239144	missense variant	-	NC_000009.12:g.6588622G>A	gnomAD
GLDC	P23378	p.Pro554Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6588623G>A	NCI-TCGA
GLDC	P23378	p.Leu555Arg	rs765384489	missense variant	-	NC_000009.12:g.6588619A>C	ExAC,gnomAD
GLDC	P23378	p.Leu555Met	rs1222330596	missense variant	-	NC_000009.12:g.6588620G>T	TOPMed
GLDC	P23378	p.Leu555Arg	RCV000670183	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588619A>C	ClinVar
GLDC	P23378	p.Ser557Phe	COSM3657735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6588438G>A	NCI-TCGA Cosmic
GLDC	P23378	p.Thr559Asn	RCV000674854	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588432G>T	ClinVar
GLDC	P23378	p.Thr559Asn	rs1554646634	missense variant	-	NC_000009.12:g.6588432G>T	-
GLDC	P23378	p.Met560Thr	rs1366947118	missense variant	-	NC_000009.12:g.6588429A>G	TOPMed
GLDC	P23378	p.Asn563Ser	rs1179181116	missense variant	-	NC_000009.12:g.6588420T>C	TOPMed,gnomAD
GLDC	P23378	p.Ser564Ile	rs121964974	missense variant	-	NC_000009.12:g.6588417C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser564Ile	rs121964974	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6588417C>A	UniProt,dbSNP
GLDC	P23378	p.Ser564Ile	VAR_004979	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6588417C>A	UniProt
GLDC	P23378	p.Ser564Ile	RCV000012762	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588417C>A	ClinVar
GLDC	P23378	p.Ser565Leu	COSM2777858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6588414G>A	NCI-TCGA Cosmic
GLDC	P23378	p.Ser566Tyr	rs775299911	missense variant	-	NC_000009.12:g.6588411G>T	ExAC,gnomAD
GLDC	P23378	p.Glu567Val	rs769569710	missense variant	-	NC_000009.12:g.6588408T>A	ExAC,gnomAD
GLDC	P23378	p.Leu568Ile	rs760181670	missense variant	-	NC_000009.12:g.6588406G>T	ExAC,gnomAD
GLDC	P23378	p.Leu568Val	rs760181670	missense variant	-	NC_000009.12:g.6588406G>C	ExAC,gnomAD
GLDC	P23378	p.Ala569Pro	rs151268759	missense variant	-	NC_000009.12:g.6588403C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala569Thr	RCV000224411	missense variant	-	NC_000009.12:g.6588403C>T	ClinVar
GLDC	P23378	p.Ala569Thr	rs151268759	missense variant	-	NC_000009.12:g.6588403C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala569Val	rs1263586630	missense variant	-	NC_000009.12:g.6588402G>A	gnomAD
GLDC	P23378	p.Ala569Ser	rs151268759	missense variant	-	NC_000009.12:g.6588403C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala569Thr	RCV000454365	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588403C>T	ClinVar
GLDC	P23378	p.Pro570Ala	rs1289915951	missense variant	-	NC_000009.12:g.6587283G>C	gnomAD
GLDC	P23378	p.Pro570His	rs1219543564	missense variant	-	NC_000009.12:g.6587282G>T	TOPMed
GLDC	P23378	p.Ile571Met	rs1363760657	missense variant	-	NC_000009.12:g.6587278G>C	gnomAD
GLDC	P23378	p.Ile571Val	rs1488639676	missense variant	-	NC_000009.12:g.6587280T>C	TOPMed
GLDC	P23378	p.Thr572Lys	rs1445325190	missense variant	-	NC_000009.12:g.6587276G>T	gnomAD
GLDC	P23378	p.Thr572Ala	rs1163069098	missense variant	-	NC_000009.12:g.6587277T>C	gnomAD
GLDC	P23378	p.Trp573Arg	COSM1109546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6587274A>G	NCI-TCGA Cosmic
GLDC	P23378	p.Trp573Ter	rs959935793	stop gained	-	NC_000009.12:g.6587273C>T	TOPMed
GLDC	P23378	p.Lys574Asn	RCV000638284	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587269T>G	ClinVar
GLDC	P23378	p.Lys574Asn	rs1554646530	missense variant	-	NC_000009.12:g.6587269T>G	-
GLDC	P23378	p.Glu575Ter	rs1554646529	stop gained	-	NC_000009.12:g.6587268C>A	-
GLDC	P23378	p.Glu575Ter	RCV000760511	nonsense	-	NC_000009.12:g.6587268C>A	ClinVar
GLDC	P23378	p.Glu575Gly	rs1406303232	missense variant	-	NC_000009.12:g.6587267T>C	TOPMed
GLDC	P23378	p.Ala577Gly	rs1439416948	missense variant	-	NC_000009.12:g.6587261G>C	TOPMed
GLDC	P23378	p.Asn578Lys	rs1034614089	missense variant	-	NC_000009.12:g.6587257G>C	TOPMed,gnomAD
GLDC	P23378	p.Asn578His	rs770315107	missense variant	-	NC_000009.12:g.6587259T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile579Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6587254G>C	NCI-TCGA
GLDC	P23378	p.His580Asp	rs1164241828	missense variant	-	NC_000009.12:g.6587253G>C	TOPMed
GLDC	P23378	p.His580Asp	RCV000664595	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587253G>C	ClinVar
GLDC	P23378	p.His580Tyr	VAR_078784	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
GLDC	P23378	p.Pro581Arg	RCV000198720	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587249G>C	ClinVar
GLDC	P23378	p.Pro581Arg	rs772871471	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6587249G>C	UniProt,dbSNP
GLDC	P23378	p.Pro581Arg	VAR_078785	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6587249G>C	UniProt
GLDC	P23378	p.Pro581Arg	rs772871471	missense variant	-	NC_000009.12:g.6587249G>C	ExAC,gnomAD
GLDC	P23378	p.Phe582Cys	rs747803222	missense variant	-	NC_000009.12:g.6587246A>C	ExAC,gnomAD
GLDC	P23378	p.Val583Gly	COSM6183595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6587243A>C	NCI-TCGA Cosmic
GLDC	P23378	p.Pro584Thr	COSM6115761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6587241G>T	NCI-TCGA Cosmic
GLDC	P23378	p.Pro584Ser	rs1001664445	missense variant	-	NC_000009.12:g.6587241G>A	TOPMed
GLDC	P23378	p.Pro584Leu	rs779138019	missense variant	-	NC_000009.12:g.6587240G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro584Ser	RCV000439392	missense variant	-	NC_000009.12:g.6587241G>A	ClinVar
GLDC	P23378	p.Leu585Pro	rs767055450	missense variant	-	NC_000009.12:g.6587237A>G	TOPMed,gnomAD
GLDC	P23378	p.Leu585Val	rs749739535	missense variant	-	NC_000009.12:g.6587238G>C	ExAC,gnomAD
GLDC	P23378	p.Leu585Met	rs749739535	missense variant	-	NC_000009.12:g.6587238G>T	ExAC,gnomAD
GLDC	P23378	p.Asp586Gly	rs1309899108	missense variant	-	NC_000009.12:g.6587234T>C	TOPMed
GLDC	P23378	p.Asp586Tyr	rs1042809307	missense variant	-	NC_000009.12:g.6587235C>A	TOPMed
GLDC	P23378	p.Gln587Glu	rs1296797567	missense variant	-	NC_000009.12:g.6587232G>C	gnomAD
GLDC	P23378	p.Gln587Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.6587232G>A	NCI-TCGA
GLDC	P23378	p.Ala588Pro	rs780654157	missense variant	-	NC_000009.12:g.6587229C>G	ExAC,gnomAD
GLDC	P23378	p.Gly590Glu	COSM3657734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6587222C>T	NCI-TCGA Cosmic
GLDC	P23378	p.Gly590Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6587222C>A	NCI-TCGA
GLDC	P23378	p.Gln592Arg	rs767598576	missense variant	-	NC_000009.12:g.6587216T>C	ExAC,gnomAD
GLDC	P23378	p.Gln592His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6587215C>G	NCI-TCGA
GLDC	P23378	p.Gln593His	rs751877218	missense variant	-	NC_000009.12:g.6587212C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gln593Glu	rs757405616	missense variant	-	NC_000009.12:g.6587214G>C	ExAC,gnomAD
GLDC	P23378	p.Gln593Lys	rs757405616	missense variant	-	NC_000009.12:g.6587214G>T	ExAC,gnomAD
GLDC	P23378	p.Phe595Leu	rs201997592	missense variant	-	NC_000009.12:g.6587206G>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg596Ter	RCV000049459	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587205G>A	ClinVar
GLDC	P23378	p.Arg596Gln	rs573132323	missense variant	-	NC_000009.12:g.6587204C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg596Ter	rs386833531	stop gained	-	NC_000009.12:g.6587205G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu597Asp	rs141875337	missense variant	-	NC_000009.12:g.6587200C>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu597Asp	rs141875337	missense variant	-	NC_000009.12:g.6587200C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu599Ter	rs1179590305	stop gained	-	NC_000009.12:g.6587196C>A	TOPMed
GLDC	P23378	p.Lys600Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6587191C>A	NCI-TCGA
GLDC	P23378	p.Leu602Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6587187A>C	NCI-TCGA
GLDC	P23378	p.Cys603Trp	rs1198628246	missense variant	-	NC_000009.12:g.6587182A>C	TOPMed,gnomAD
GLDC	P23378	p.Glu604Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6587180T>C	NCI-TCGA
GLDC	P23378	p.Thr606Ile	rs772777667	missense variant	-	NC_000009.12:g.6587174G>A	ExAC,gnomAD
GLDC	P23378	p.Gly607Ser	rs1554646517	missense variant	-	NC_000009.12:g.6587172C>T	-
GLDC	P23378	p.Gly607Ser	RCV000672824	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587172C>T	ClinVar
GLDC	P23378	p.Tyr608Cys	rs753232919	missense variant	-	NC_000009.12:g.6587168T>C	-
GLDC	P23378	p.Tyr608Asp	rs1163159065	missense variant	-	NC_000009.12:g.6587169A>C	TOPMed
GLDC	P23378	p.Tyr608Ter	RCV000049460	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587164_6587174del	ClinVar
GLDC	P23378	p.Asp609Gly	rs1407108124	missense variant	-	NC_000009.12:g.6587165T>C	TOPMed
GLDC	P23378	p.Gln610Ter	rs1251538998	stop gained	-	NC_000009.12:g.6587163G>A	gnomAD
GLDC	P23378	p.Gln610Glu	rs1251538998	missense variant	-	NC_000009.12:g.6587163G>C	gnomAD
GLDC	P23378	p.Val611Gly	RCV000049461	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587159A>C	ClinVar
GLDC	P23378	p.Val611Leu	RCV000516531	missense variant	-	NC_000009.12:g.6587160C>G	ClinVar
GLDC	P23378	p.Val611Gly	rs386833533	missense variant	-	NC_000009.12:g.6587159A>C	-
GLDC	P23378	p.Val611Leu	rs1554646513	missense variant	-	NC_000009.12:g.6587160C>G	-
GLDC	P23378	p.Cys612Gly	rs1220787758	missense variant	-	NC_000009.12:g.6587157A>C	gnomAD
GLDC	P23378	p.Phe613Leu	rs202191798	missense variant	-	NC_000009.12:g.6587154A>G	1000Genomes
GLDC	P23378	p.Phe613Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6587152G>T	NCI-TCGA
GLDC	P23378	p.Gln614Ter	rs1168647647	stop gained	-	NC_000009.12:g.6587151G>A	TOPMed
GLDC	P23378	p.Ser617Arg	rs777724341	missense variant	-	NC_000009.12:g.6565429G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser617Thr	rs747786666	missense variant	-	NC_000009.12:g.6587141C>G	ExAC,gnomAD
GLDC	P23378	p.Gly618Glu	RCV000784898	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6565427C>T	ClinVar
GLDC	P23378	p.Gly618Arg	rs758575745	missense variant	-	NC_000009.12:g.6565428C>T	ExAC,gnomAD
GLDC	P23378	p.Gln620Arg	rs1484183104	missense variant	-	NC_000009.12:g.6565421T>C	gnomAD
GLDC	P23378	p.Gly621Ala	rs1311614683	missense variant	-	NC_000009.12:g.6565418C>G	TOPMed,gnomAD
GLDC	P23378	p.Ala624Thr	rs143653301	missense variant	-	NC_000009.12:g.6565410C>T	ESP,ExAC,TOPMed
GLDC	P23378	p.Ala624Val	rs779980470	missense variant	-	NC_000009.12:g.6565409G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala624Gly	rs779980470	missense variant	-	NC_000009.12:g.6565409G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala624Ter	RCV000674286	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6565411_6565412AT[3]	ClinVar
GLDC	P23378	p.Ala624Asp	VAR_078786	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
GLDC	P23378	p.Gly625Val	rs756020602	missense variant	-	NC_000009.12:g.6565406C>A	ExAC,gnomAD
GLDC	P23378	p.Ile629Met	rs1400097268	missense variant	-	NC_000009.12:g.6565393G>C	gnomAD
GLDC	P23378	p.Ile629Leu	rs761680597	missense variant	-	NC_000009.12:g.6565395T>G	ExAC,gnomAD
GLDC	P23378	p.Ile629Val	rs761680597	missense variant	-	NC_000009.12:g.6565395T>C	ExAC,gnomAD
GLDC	P23378	p.Arg630Ter	rs751025203	stop gained	-	NC_000009.12:g.6565392G>A	ExAC,gnomAD
GLDC	P23378	p.Arg630Pro	rs763517274	missense variant	-	NC_000009.12:g.6565391C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg630Gln	rs763517274	missense variant	-	NC_000009.12:g.6565391C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg630Pro	RCV000550531	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6565391C>G	ClinVar
GLDC	P23378	p.Arg630Ter	RCV000670170	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6565392G>A	ClinVar
GLDC	P23378	p.Ala631Ser	COSM1462684	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6565389C>A	NCI-TCGA Cosmic
GLDC	P23378	p.Ala631Val	rs1422219374	missense variant	-	NC_000009.12:g.6565388G>A	gnomAD
GLDC	P23378	p.Ala631Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6565389C>T	NCI-TCGA
GLDC	P23378	p.Tyr632His	rs775184849	missense variant	-	NC_000009.12:g.6565386A>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asn634Lys	rs770124547	missense variant	-	NC_000009.12:g.6565378G>C	ExAC,gnomAD
GLDC	P23378	p.Gly637Arg	rs1025920284	missense variant	-	NC_000009.12:g.6565371C>G	TOPMed
GLDC	P23378	p.Gly637Val	rs759852256	missense variant	-	NC_000009.12:g.6565370C>A	ExAC,gnomAD
GLDC	P23378	p.Gly639Glu	rs1488935367	missense variant	-	NC_000009.12:g.6565364C>T	TOPMed,gnomAD
GLDC	P23378	p.Thr642Lys	rs141153261	missense variant	-	NC_000009.12:g.6565355G>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr642Met	rs141153261	missense variant	-	NC_000009.12:g.6565355G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys644Phe	rs386833535	missense variant	-	NC_000009.12:g.6558680C>A	-
GLDC	P23378	p.Cys644Phe	RCV000049463	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6558680C>A	ClinVar
GLDC	P23378	p.Pro647Leu	RCV000491317	missense variant	Smith-Magenis Syndrome-like	NC_000009.12:g.6558671G>A	ClinVar
GLDC	P23378	p.Pro647Leu	rs201135624	missense variant	-	NC_000009.12:g.6558671G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Lys648Thr	rs1199541935	missense variant	-	NC_000009.12:g.6558668T>G	gnomAD
GLDC	P23378	p.His651Arg	RCV000049464	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6558659T>C	ClinVar
GLDC	P23378	p.His651Arg	rs386833536	missense variant	-	NC_000009.12:g.6558659T>C	TOPMed
GLDC	P23378	p.His651Arg	RCV000430656	missense variant	-	NC_000009.12:g.6558659T>C	ClinVar
GLDC	P23378	p.Thr653Ser	rs1372622638	missense variant	-	NC_000009.12:g.6558653G>C	TOPMed
GLDC	P23378	p.Ala656Thr	rs1311599421	missense variant	-	NC_000009.12:g.6558645C>T	gnomAD
GLDC	P23378	p.Ser657Asn	RCV000664632	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6558641C>T	ClinVar
GLDC	P23378	p.Ser657Asn	rs1301895668	missense variant	-	NC_000009.12:g.6558641C>T	gnomAD
GLDC	P23378	p.Ala658Ser	rs1220392397	missense variant	-	NC_000009.12:g.6558639C>A	gnomAD
GLDC	P23378	p.His659Tyr	rs1330236076	missense variant	-	NC_000009.12:g.6558636G>A	gnomAD
GLDC	P23378	p.His659Arg	rs752141124	missense variant	-	NC_000009.12:g.6558635T>C	ExAC,gnomAD
GLDC	P23378	p.Met660Arg	rs764727442	missense variant	-	NC_000009.12:g.6558632A>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met660Thr	rs764727442	missense variant	-	NC_000009.12:g.6558632A>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala661Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6558630C>A	NCI-TCGA
GLDC	P23378	p.Gln666Ter	rs386833537	stop gained	-	NC_000009.12:g.6558615G>A	-
GLDC	P23378	p.Gln666Ter	RCV000049465	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6558615G>A	ClinVar
GLDC	P23378	p.Pro667Leu	rs753545868	missense variant	-	NC_000009.12:g.6558611G>A	ExAC,gnomAD
GLDC	P23378	p.Pro667His	rs753545868	missense variant	-	NC_000009.12:g.6558611G>T	ExAC,gnomAD
GLDC	P23378	p.Val668Leu	rs766743130	missense variant	-	NC_000009.12:g.6558609C>A	ExAC,gnomAD
GLDC	P23378	p.Glu669Asp	COSM3848650	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6558604C>A	NCI-TCGA Cosmic
GLDC	P23378	p.Glu669Asp	rs773654767	missense variant	-	NC_000009.12:g.6558604C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu669Lys	rs760983899	missense variant	-	NC_000009.12:g.6558606C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val670Met	rs767864486	missense variant	-	NC_000009.12:g.6558603C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val670Leu	rs767864486	missense variant	-	NC_000009.12:g.6558603C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp671Glu	rs762425284	missense variant	-	NC_000009.12:g.6558598A>T	ExAC,gnomAD
GLDC	P23378	p.Tyr673Cys	rs895547481	missense variant	-	NC_000009.12:g.6558593T>C	TOPMed
GLDC	P23378	p.Asn675Ser	rs749513146	missense variant	-	NC_000009.12:g.6558587T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asn675Thr	rs749513146	missense variant	-	NC_000009.12:g.6558587T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile676Met	rs372604935	missense variant	-	NC_000009.12:g.6558583G>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp677Gly	rs758200296	missense variant	-	NC_000009.12:g.6558581T>C	ExAC,gnomAD
GLDC	P23378	p.Asp677Val	rs758200296	missense variant	-	NC_000009.12:g.6558581T>A	ExAC,gnomAD
GLDC	P23378	p.Asp677Asn	rs746744137	missense variant	-	NC_000009.12:g.6558582C>T	ExAC,gnomAD
GLDC	P23378	p.Ala678Val	rs566453582	missense variant	-	NC_000009.12:g.6558578G>A	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Val679Ile	rs778376889	missense variant	-	NC_000009.12:g.6558576C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.His680Arg	rs754531832	missense variant	-	NC_000009.12:g.6558572T>C	ExAC,gnomAD
GLDC	P23378	p.Leu681Phe	rs753457618	missense variant	-	NC_000009.12:g.6558570G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Lys682AsnProGlyTerUnk	rs1446960824	stop gained	-	NC_000009.12:g.6558565_6558566insCTACCCCGGG	gnomAD
GLDC	P23378	p.Lys682Met	rs1305077560	missense variant	-	NC_000009.12:g.6558566T>A	gnomAD
GLDC	P23378	p.del682TerThrValIleHisArgProProLeuLeuValSerGluLeuCysUnk	rs1211401816	stop gained	-	NC_000009.12:g.6558567_6558568insCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA	gnomAD
GLDC	P23378	p.Ala683Gly	rs1324189699	missense variant	-	NC_000009.12:g.6558563G>C	TOPMed
GLDC	P23378	p.Met684Val	rs1452317734	missense variant	-	NC_000009.12:g.6558561T>C	gnomAD
GLDC	P23378	p.Val685Leu	rs367988640	missense variant	-	NC_000009.12:g.6556302C>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val685Leu	rs367988640	missense variant	-	NC_000009.12:g.6556302C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.His688Arg	rs759659824	missense variant	-	NC_000009.12:g.6556292T>C	ExAC,gnomAD
GLDC	P23378	p.His688Tyr	rs376946439	missense variant	-	NC_000009.12:g.6556293G>A	ESP,TOPMed,gnomAD
GLDC	P23378	p.Lys689Gln	rs1296691739	missense variant	-	NC_000009.12:g.6556290T>G	gnomAD
GLDC	P23378	p.Lys689Thr	rs200451792	missense variant	-	NC_000009.12:g.6556289T>G	1000Genomes,gnomAD
GLDC	P23378	p.Lys689Arg	rs200451792	missense variant	-	NC_000009.12:g.6556289T>C	1000Genomes,gnomAD
GLDC	P23378	p.Asn691Ser	rs1467058055	missense variant	-	NC_000009.12:g.6556283T>C	TOPMed
GLDC	P23378	p.Leu692Val	rs1171271917	missense variant	-	NC_000009.12:g.6556281G>C	gnomAD
GLDC	P23378	p.Ala693Gly	rs761555221	missense variant	-	NC_000009.12:g.6556277G>C	ExAC,gnomAD
GLDC	P23378	p.Ala693Val	rs761555221	missense variant	-	NC_000009.12:g.6556277G>A	ExAC,gnomAD
GLDC	P23378	p.Ala694Pro	rs386833538	missense variant	-	NC_000009.12:g.6556275C>G	-
GLDC	P23378	p.Ala694Gly	rs780029956	missense variant	-	NC_000009.12:g.6556274G>C	gnomAD
GLDC	P23378	p.Ala694Val	rs780029956	missense variant	-	NC_000009.12:g.6556274G>A	gnomAD
GLDC	P23378	p.Ala694Ter	RCV000669364	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556268_6556275del	ClinVar
GLDC	P23378	p.Ala694Pro	RCV000049466	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556275C>G	ClinVar
GLDC	P23378	p.Ile695Met	rs145547090	missense variant	-	NC_000009.12:g.6556270G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met696Val	rs371447782	missense variant	-	NC_000009.12:g.6556269T>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met696Ile	rs1268958687	missense variant	-	NC_000009.12:g.6556267C>T	gnomAD
GLDC	P23378	p.Thr698Ala	COSM1462683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6556263T>C	NCI-TCGA Cosmic
GLDC	P23378	p.Thr698Arg	rs1457571270	missense variant	-	NC_000009.12:g.6556262G>C	gnomAD
GLDC	P23378	p.Tyr699Asn	rs769404917	missense variant	-	NC_000009.12:g.6556260A>T	ExAC,gnomAD
GLDC	P23378	p.Tyr699Ter	rs149694787	stop gained	-	NC_000009.12:g.6556258G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro700Ala	rs386833539	missense variant	-	NC_000009.12:g.6556257G>C	-
GLDC	P23378	p.Pro700Ala	RCV000049467	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556257G>C	ClinVar
GLDC	P23378	p.Ser701Phe	rs757004829	missense variant	-	NC_000009.12:g.6556253G>A	ExAC,gnomAD
GLDC	P23378	p.Thr702Ile	RCV000049468	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556250G>A	ClinVar
GLDC	P23378	p.Thr702Ile	rs386833540	missense variant	-	NC_000009.12:g.6556250G>A	-
GLDC	P23378	p.Asn703Ser	rs778298626	missense variant	-	NC_000009.12:g.6556247T>C	ExAC,gnomAD
GLDC	P23378	p.Val705Met	rs147275962	missense variant	-	NC_000009.12:g.6556242C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val705Met	RCV000528256	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556242C>T	ClinVar
GLDC	P23378	p.Val705Met	RCV000711816	missense variant	-	NC_000009.12:g.6556242C>T	ClinVar
GLDC	P23378	p.Val705Glu	rs753301368	missense variant	-	NC_000009.12:g.6556241A>T	ExAC,gnomAD
GLDC	P23378	p.Asn709Asp	rs978127778	missense variant	-	NC_000009.12:g.6556230T>C	TOPMed,gnomAD
GLDC	P23378	p.Asn709Lys	RCV000673884	insertion	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556230_6556232dup	ClinVar
GLDC	P23378	p.Asn709Tyr	rs978127778	missense variant	-	NC_000009.12:g.6556230T>A	TOPMed,gnomAD
GLDC	P23378	p.Asn709Ser	rs150943866	missense variant	-	NC_000009.12:g.6556229T>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asn709Ser	RCV000638270	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556229T>C	ClinVar
GLDC	P23378	p.Ile710Met	COSM6183596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6556225G>C	NCI-TCGA Cosmic
GLDC	P23378	p.Ile710Phe	rs1399902770	missense variant	-	NC_000009.12:g.6556227T>A	gnomAD
GLDC	P23378	p.Ser711Asn	rs1475338150	missense variant	-	NC_000009.12:g.6556223C>T	gnomAD
GLDC	P23378	p.Asp712Glu	rs762761551	missense variant	-	NC_000009.12:g.6556219G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val713Ala	rs774067413	missense variant	-	NC_000009.12:g.6556217A>G	ExAC,gnomAD
GLDC	P23378	p.Val713Met	rs912659426	missense variant	-	NC_000009.12:g.6556218C>T	TOPMed,gnomAD
GLDC	P23378	p.Cys714Ser	rs762786233	missense variant	-	NC_000009.12:g.6556215A>T	ExAC,gnomAD
GLDC	P23378	p.Asp715Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6556211T>C	NCI-TCGA
GLDC	P23378	p.Leu716His	RCV000378657	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556208A>T	ClinVar
GLDC	P23378	p.Leu716His	rs145018304	missense variant	-	NC_000009.12:g.6556208A>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile717Val	rs117460214	missense variant	-	NC_000009.12:g.6556206T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile717Thr	rs746722279	missense variant	-	NC_000009.12:g.6556205A>G	ExAC,gnomAD
GLDC	P23378	p.Ile717Val	RCV000324125	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556206T>C	ClinVar
GLDC	P23378	p.His718LeuLeuValTer	RCV000049469	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556200_6556202delinsTAAACCAGGA	ClinVar
GLDC	P23378	p.His718Arg	rs1284042082	missense variant	-	NC_000009.12:g.6556202T>C	gnomAD
GLDC	P23378	p.HisGln718LeuLeuValTerUnk	rs386833541	stop gained	-	NC_000009.12:g.6556200_6556202delinsTAAACCAGGA	-
GLDC	P23378	p.Gln719Glu	rs1239687858	missense variant	-	NC_000009.12:g.6556200G>C	gnomAD
GLDC	P23378	p.Gln719Arg	rs1293153237	missense variant	-	NC_000009.12:g.6556199T>C	TOPMed
GLDC	P23378	p.His720Arg	rs1377840004	missense variant	-	NC_000009.12:g.6556196T>C	TOPMed,gnomAD
GLDC	P23378	p.His720Tyr	rs778267718	missense variant	-	NC_000009.12:g.6556197G>A	ExAC
GLDC	P23378	p.His720Gln	rs758841885	missense variant	-	NC_000009.12:g.6556195A>C	ExAC,gnomAD
GLDC	P23378	p.Gly722Arg	rs1338513782	missense variant	-	NC_000009.12:g.6556191C>T	TOPMed,gnomAD
GLDC	P23378	p.Gly722Ter	rs1338513782	stop gained	-	NC_000009.12:g.6556191C>A	TOPMed,gnomAD
GLDC	P23378	p.Gln723Leu	rs575709546	missense variant	-	NC_000009.12:g.6556187T>A	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Gln723Glu	rs779434645	missense variant	-	NC_000009.12:g.6556188G>C	ExAC,gnomAD
GLDC	P23378	p.Gln723His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6556186C>A	NCI-TCGA
GLDC	P23378	p.Gln723Ter	rs779434645	stop gained	-	NC_000009.12:g.6556188G>A	ExAC,gnomAD
GLDC	P23378	p.Tyr725Phe	rs1418580025	missense variant	-	NC_000009.12:g.6556181T>A	gnomAD
GLDC	P23378	p.Tyr725His	rs1156235303	missense variant	-	NC_000009.12:g.6556182A>G	gnomAD
GLDC	P23378	p.Leu726Gln	rs1114167353	missense variant	-	NC_000009.12:g.6556178A>T	-
GLDC	P23378	p.Leu726Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6556179G>T	NCI-TCGA
GLDC	P23378	p.Leu726Gln	RCV000491029	missense variant	Smith-Magenis Syndrome-like	NC_000009.12:g.6556178A>T	ClinVar
GLDC	P23378	p.Asp727Glu	rs192045547	missense variant	-	NC_000009.12:g.6556174G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly728Arg	rs386833542	missense variant	-	NC_000009.12:g.6556173C>G	TOPMed,gnomAD
GLDC	P23378	p.Gly728Arg	rs386833542	missense variant	-	NC_000009.12:g.6556173C>T	TOPMed,gnomAD
GLDC	P23378	p.Gly728Arg	RCV000049470	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556173C>G	ClinVar
GLDC	P23378	p.Ala729Ter	RCV000049471	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556169del	ClinVar
GLDC	P23378	p.Asn730Lys	rs1488575943	missense variant	-	NC_000009.12:g.6556165A>T	TOPMed
GLDC	P23378	p.Met731Leu	rs545419197	missense variant	-	NC_000009.12:g.6556164T>A	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Met731Thr	rs763854673	missense variant	-	NC_000009.12:g.6556163A>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asn732Lys	rs386833544	missense variant	-	NC_000009.12:g.6556159A>T	-
GLDC	P23378	p.Asn732Lys	RCV000049472	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556159A>T	ClinVar
GLDC	P23378	p.Val735Leu	rs143119940	missense variant	-	NC_000009.12:g.6554781C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val735Leu	RCV000514557	missense variant	-	NC_000009.12:g.6554781C>A	ClinVar
GLDC	P23378	p.Val735Leu	rs143119940	missense variant	-	NC_000009.12:g.6554781C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys738Ser	rs375850752	missense variant	-	NC_000009.12:g.6554772A>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys738Ter	RCV000049474	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554771_6554772del	ClinVar
GLDC	P23378	p.Arg739His	RCV000012770	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554768C>T	ClinVar
GLDC	P23378	p.Arg739Cys	rs148775220	missense variant	-	NC_000009.12:g.6554769G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg739His	rs121964980	missense variant	-	NC_000009.12:g.6554768C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro740His	rs751798296	missense variant	-	NC_000009.12:g.6554765G>T	ExAC,gnomAD
GLDC	P23378	p.Pro740Arg	rs751798296	missense variant	-	NC_000009.12:g.6554765G>C	ExAC,gnomAD
GLDC	P23378	p.Pro740Ser	rs1255984461	missense variant	-	NC_000009.12:g.6554766G>A	gnomAD
GLDC	P23378	p.Gly741Glu	rs1318425288	missense variant	-	NC_000009.12:g.6554762C>T	gnomAD
GLDC	P23378	p.Asp742Tyr	COSM1109543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6554760C>A	NCI-TCGA Cosmic
GLDC	P23378	p.Asp742His	rs1297652907	missense variant	-	NC_000009.12:g.6554760C>G	gnomAD
GLDC	P23378	p.Gly744Arg	rs370061961	missense variant	-	NC_000009.12:g.6554754C>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly744Trp	rs370061961	missense variant	-	NC_000009.12:g.6554754C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly744Val	rs766368793	missense variant	-	NC_000009.12:g.6554753C>A	ExAC,gnomAD
GLDC	P23378	p.Ser745Cys	rs1398537221	missense variant	-	NC_000009.12:g.6554750G>C	gnomAD
GLDC	P23378	p.Asp746Glu	rs749882600	missense variant	-	NC_000009.12:g.6554746A>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp746Glu	RCV000670618	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554746A>T	ClinVar
GLDC	P23378	p.Val747Ile	rs767001572	missense variant	-	NC_000009.12:g.6554745C>T	ExAC,gnomAD
GLDC	P23378	p.Val747Asp	RCV000761435	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554744A>T	ClinVar
GLDC	P23378	p.Ser748Trp	rs769035358	missense variant	-	NC_000009.12:g.6554741G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser748Leu	rs769035358	missense variant	-	NC_000009.12:g.6554741G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu750ThrPheSerTerUnkUnk	COSM68984	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.6554727_6554736GAAGATTTAG>-	NCI-TCGA Cosmic
GLDC	P23378	p.His753Gln	COSM3675349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6554725G>T	NCI-TCGA Cosmic
GLDC	P23378	p.His753Pro	RCV000049475	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554726T>G	ClinVar
GLDC	P23378	p.His753Pro	rs386833547	missense variant	-	NC_000009.12:g.6554726T>G	-
GLDC	P23378	p.Lys754Arg	COSM6183597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6554723T>C	NCI-TCGA Cosmic
GLDC	P23378	p.Thr755Ser	rs746383783	missense variant	-	NC_000009.12:g.6554720G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Phe756Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6554716G>T	NCI-TCGA
GLDC	P23378	p.Phe756del	VAR_009939	inframe_deletion	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
GLDC	P23378	p.Cys757Ser	rs776772464	missense variant	-	NC_000009.12:g.6554715A>T	ExAC,gnomAD
GLDC	P23378	p.Ile758Val	rs747219893	missense variant	-	NC_000009.12:g.6554712T>C	ExAC,gnomAD
GLDC	P23378	p.Ile758Leu	rs747219893	missense variant	-	NC_000009.12:g.6554712T>G	ExAC,gnomAD
GLDC	P23378	p.His760Ter	RCV000685534	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554709dup	ClinVar
GLDC	P23378	p.Gly761Arg	rs386833549	missense variant	-	NC_000009.12:g.6554703C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly761Arg	RCV000012766	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554703C>G	ClinVar
GLDC	P23378	p.Gly761Arg	rs386833549	missense variant	-	NC_000009.12:g.6554703C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly761Arg	RCV000671712	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554703C>T	ClinVar
GLDC	P23378	p.Gly762Arg	rs386833550	missense variant	-	NC_000009.12:g.6554700C>T	-
GLDC	P23378	p.Gly762Arg	RCV000049478	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554700C>T	ClinVar
GLDC	P23378	p.Gly763Asp	rs1374110692	missense variant	-	NC_000009.12:g.6554696C>T	gnomAD
GLDC	P23378	p.Gly764Ser	rs779998377	missense variant	-	NC_000009.12:g.6554694C>T	ExAC,gnomAD
GLDC	P23378	p.Pro765Ser	RCV000049479	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554691G>A	ClinVar
GLDC	P23378	p.Pro765Ser	rs386833551	missense variant	-	NC_000009.12:g.6554691G>A	ExAC,gnomAD
GLDC	P23378	p.Pro765Ser	RCV000419990	missense variant	-	NC_000009.12:g.6554691G>A	ClinVar
GLDC	P23378	p.Gly766Val	rs750384225	missense variant	-	NC_000009.12:g.6554687C>A	ExAC,gnomAD
GLDC	P23378	p.Gly766Val	RCV000670171	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554687C>A	ClinVar
GLDC	P23378	p.Gly766Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6554688C>G	NCI-TCGA
GLDC	P23378	p.Gly768Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6554681C>T	NCI-TCGA
GLDC	P23378	p.Gly768Glu	VAR_078788	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
GLDC	P23378	p.Pro769Ser	rs751114163	missense variant	-	NC_000009.12:g.6554679G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro769Leu	rs386833552	missense variant	-	NC_000009.12:g.6554678G>A	-
GLDC	P23378	p.Pro769Thr	rs751114163	missense variant	-	NC_000009.12:g.6554679G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro769Thr	RCV000638274	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554679G>T	ClinVar
GLDC	P23378	p.Pro769His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6554678G>T	NCI-TCGA
GLDC	P23378	p.Pro769Leu	RCV000049480	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554678G>A	ClinVar
GLDC	P23378	p.Ile770Val	rs762611136	missense variant	-	NC_000009.12:g.6554676T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile770Met	rs765661419	missense variant	-	NC_000009.12:g.6554674G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly771Arg	RCV000049481	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554673C>T	ClinVar
GLDC	P23378	p.Gly771Arg	rs386833553	missense variant	-	NC_000009.12:g.6554673C>T	TOPMed,gnomAD
GLDC	P23378	p.Gly771Val	rs760077981	missense variant	-	NC_000009.12:g.6554672C>A	ExAC
GLDC	P23378	p.Val772Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6554670C>T	NCI-TCGA
GLDC	P23378	p.Lys773Ter	RCV000670154	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553508T>A	ClinVar
GLDC	P23378	p.Lys773Ter	rs373618804	stop gained	-	NC_000009.12:g.6553508T>A	ESP,ExAC,gnomAD
GLDC	P23378	p.Lys774Ile	rs777256135	missense variant	-	NC_000009.12:g.6553504T>A	ExAC,gnomAD
GLDC	P23378	p.His775Tyr	RCV000638271	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553502G>A	ClinVar
GLDC	P23378	p.His775Arg	RCV000049483	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553501T>C	ClinVar
GLDC	P23378	p.His775Leu	rs386833555	missense variant	-	NC_000009.12:g.6553501T>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.His775Tyr	rs1554643619	missense variant	-	NC_000009.12:g.6553502G>A	-
GLDC	P23378	p.His775Arg	rs386833555	missense variant	-	NC_000009.12:g.6553501T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala777Thr	rs778484895	missense variant	-	NC_000009.12:g.6553496C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala777Asp	rs1038929765	missense variant	-	NC_000009.12:g.6553495G>T	TOPMed
GLDC	P23378	p.Ala777Ser	rs778484895	missense variant	-	NC_000009.12:g.6553496C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro778Leu	rs754670348	missense variant	-	NC_000009.12:g.6553492G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro778Ala	RCV000698907	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553493G>C	ClinVar
GLDC	P23378	p.Pro778Gln	rs754670348	missense variant	-	NC_000009.12:g.6553492G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro778Ala	rs1476838990	missense variant	-	NC_000009.12:g.6553493G>C	gnomAD
GLDC	P23378	p.Pro781Ser	rs868055130	missense variant	-	NC_000009.12:g.6553484G>A	gnomAD
GLDC	P23378	p.Asn782Ser	rs1264775700	missense variant	-	NC_000009.12:g.6553480T>C	gnomAD
GLDC	P23378	p.His783Arg	rs1208911328	missense variant	-	NC_000009.12:g.6553477T>C	gnomAD
GLDC	P23378	p.Pro784Arg	rs761073591	missense variant	-	NC_000009.12:g.6553474G>C	ExAC,gnomAD
GLDC	P23378	p.Pro784Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6553475G>A	NCI-TCGA
GLDC	P23378	p.Val785Phe	rs372101832	missense variant	-	NC_000009.12:g.6553472C>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val785Ile	rs372101832	missense variant	-	NC_000009.12:g.6553472C>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser787Ter	rs1317774157	stop gained	-	NC_000009.12:g.6553465G>T	gnomAD
GLDC	P23378	p.Leu788Val	rs139300551	missense variant	-	NC_000009.12:g.6553463G>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg790Gln	rs187209250	missense variant	-	NC_000009.12:g.6553456C>T	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Arg790Trp	RCV000049484	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553457G>A	ClinVar
GLDC	P23378	p.Arg790Trp	rs386833556	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6553457G>A	UniProt,dbSNP
GLDC	P23378	p.Arg790Trp	VAR_078789	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6553457G>A	UniProt
GLDC	P23378	p.Arg790Trp	rs386833556	missense variant	-	NC_000009.12:g.6553457G>A	ExAC,gnomAD
GLDC	P23378	p.Arg790Gly	rs386833556	missense variant	-	NC_000009.12:g.6553457G>C	ExAC,gnomAD
GLDC	P23378	p.Asp793Asn	rs776288649	missense variant	-	NC_000009.12:g.6553448C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp793Val	rs150833015	missense variant	-	NC_000009.12:g.6553447T>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp793His	rs776288649	missense variant	-	NC_000009.12:g.6553448C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp793Gly	rs150833015	missense variant	-	NC_000009.12:g.6553447T>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala794Thr	RCV000515011	missense variant	-	NC_000009.12:g.6553445C>T	ClinVar
GLDC	P23378	p.Ala794Thr	rs141933811	missense variant	-	NC_000009.12:g.6553445C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys795Ser	rs567167527	missense variant	-	NC_000009.12:g.6553442A>T	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys795Ser	RCV000560893	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553442A>T	ClinVar
GLDC	P23378	p.Pro796Leu	rs975247366	missense variant	-	NC_000009.12:g.6553438G>A	TOPMed,gnomAD
GLDC	P23378	p.Gly798Ter	COSM3907609	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.6553433C>A	NCI-TCGA Cosmic
GLDC	P23378	p.Gly798Arg	rs1379722178	missense variant	-	NC_000009.12:g.6553433C>T	TOPMed
GLDC	P23378	p.Thr799Ser	rs772015252	missense variant	-	NC_000009.12:g.6553429G>C	ExAC,gnomAD
GLDC	P23378	p.Val800Ile	rs754581403	missense variant	-	NC_000009.12:g.6553427C>T	ExAC,gnomAD
GLDC	P23378	p.Ala802Val	rs121964977	missense variant	-	NC_000009.12:g.6553420G>A	ESP,TOPMed,gnomAD
GLDC	P23378	p.Ala802Val	RCV000012767	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553420G>A	ClinVar
GLDC	P23378	p.Ala803Val	rs1375473864	missense variant	-	NC_000009.12:g.6553417G>A	gnomAD
GLDC	P23378	p.Pro804Gln	rs898034407	missense variant	-	NC_000009.12:g.6553414G>T	TOPMed,gnomAD
GLDC	P23378	p.Trp805Ter	rs386833557	stop gained	-	NC_000009.12:g.6553411C>T	-
GLDC	P23378	p.Trp805Ter	RCV000049485	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553411C>T	ClinVar
GLDC	P23378	p.Gly806Ser	rs138797822	missense variant	-	NC_000009.12:g.6553409C>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly806Val	rs536962572	missense variant	-	NC_000009.12:g.6553408C>A	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Ser807Cys	rs955328257	missense variant	-	NC_000009.12:g.6553405G>C	gnomAD
GLDC	P23378	p.Ser808Ter	RCV000049486	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553403del	ClinVar
GLDC	P23378	p.Ser808Ile	rs750849174	missense variant	-	NC_000009.12:g.6553402C>A	ExAC,gnomAD
GLDC	P23378	p.Ser808Arg	rs1314006147	missense variant	-	NC_000009.12:g.6553403T>G	gnomAD
GLDC	P23378	p.Ile810Val	rs768090068	missense variant	-	NC_000009.12:g.6553397T>C	ExAC,gnomAD
GLDC	P23378	p.Ile810Ter	RCV000790783	frameshift	-	NC_000009.12:g.6553399_6553402dup	ClinVar
GLDC	P23378	p.Ile810Ter	RCV000586601	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553399_6553402dup	ClinVar
GLDC	P23378	p.Pro812Ser	rs145576840	missense variant	-	NC_000009.12:g.6553391G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile813Val	rs751624844	missense variant	-	NC_000009.12:g.6553388T>C	ExAC,gnomAD
GLDC	P23378	p.Ser814Pro	COSM1109540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6553385A>G	NCI-TCGA Cosmic
GLDC	P23378	p.Ser814Phe	rs763075374	missense variant	-	NC_000009.12:g.6553384G>A	ExAC,gnomAD
GLDC	P23378	p.Ser814Cys	rs763075374	missense variant	-	NC_000009.12:g.6553384G>C	ExAC,gnomAD
GLDC	P23378	p.Ala816Ser	rs775834004	missense variant	-	NC_000009.12:g.6553379C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala816Thr	RCV000638286	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553379C>T	ClinVar
GLDC	P23378	p.Ala816Thr	rs775834004	missense variant	-	NC_000009.12:g.6553379C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met820Val	rs781682244	missense variant	-	NC_000009.12:g.6550914T>C	ExAC,gnomAD
GLDC	P23378	p.Met820Val	RCV000674253	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550914T>C	ClinVar
GLDC	P23378	p.Met821Leu	rs757748163	missense variant	-	NC_000009.12:g.6550911T>A	ExAC,gnomAD
GLDC	P23378	p.Met821Thr	rs747445550	missense variant	-	NC_000009.12:g.6550910A>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly823Ser	rs1486680415	missense variant	-	NC_000009.12:g.6550905C>T	gnomAD
GLDC	P23378	p.Gly823Asp	rs778306432	missense variant	-	NC_000009.12:g.6550904C>T	ExAC,gnomAD
GLDC	P23378	p.Lys824Gln	rs1447727878	missense variant	-	NC_000009.12:g.6550902T>G	gnomAD
GLDC	P23378	p.Gly825Asp	rs906049409	missense variant	-	NC_000009.12:g.6550898C>T	-
GLDC	P23378	p.Gly825Asp	RCV000489031	missense variant	-	NC_000009.12:g.6550898C>T	ClinVar
GLDC	P23378	p.Lys827Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6550893T>C	NCI-TCGA
GLDC	P23378	p.Gln828Ter	rs1209943477	stop gained	-	NC_000009.12:g.6550890G>A	TOPMed
GLDC	P23378	p.Gln828Ter	RCV000673972	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550890_6550893del	ClinVar
GLDC	P23378	p.Ala829Asp	rs1157800438	missense variant	-	NC_000009.12:g.6550886G>T	gnomAD
GLDC	P23378	p.Thr830Lys	COSM754384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6550883G>T	NCI-TCGA Cosmic
GLDC	P23378	p.Thr830Met	RCV000049488	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550883G>A	ClinVar
GLDC	P23378	p.Thr830Met	rs386833560	missense variant	-	NC_000009.12:g.6550883G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr832Ala	rs754106308	missense variant	-	NC_000009.12:g.6550878T>C	ExAC,gnomAD
GLDC	P23378	p.Ala833Val	rs1275684568	missense variant	-	NC_000009.12:g.6550874G>A	gnomAD
GLDC	P23378	p.Ile834Thr	rs370336693	missense variant	-	NC_000009.12:g.6550871A>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile834Met	rs1319920009	missense variant	-	NC_000009.12:g.6550870T>C	gnomAD
GLDC	P23378	p.Ala837Val	rs1157130507	missense variant	-	NC_000009.12:g.6550862G>A	TOPMed
GLDC	P23378	p.Asn838Lys	rs1390524621	missense variant	-	NC_000009.12:g.6550858G>C	gnomAD
GLDC	P23378	p.Tyr839Cys	VAR_079313	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
GLDC	P23378	p.Met840Lys	rs386833561	missense variant	-	NC_000009.12:g.6550853A>T	-
GLDC	P23378	p.Met840Val	rs781693346	missense variant	-	NC_000009.12:g.6550854T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met840Leu	rs781693346	missense variant	-	NC_000009.12:g.6550854T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met840Val	RCV000263401	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550854T>C	ClinVar
GLDC	P23378	p.Met840Lys	RCV000049489	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550853A>T	ClinVar
GLDC	P23378	p.Ala841Pro	RCV000049490	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550851C>G	ClinVar
GLDC	P23378	p.Ala841Pro	rs386833562	missense variant	-	NC_000009.12:g.6550851C>G	-
GLDC	P23378	p.Lys842Asn	rs548033815	missense variant	-	NC_000009.12:g.6550846C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg843Ter	RCV000537902	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550845G>A	ClinVar
GLDC	P23378	p.Arg843Ter	rs1554643360	stop gained	-	NC_000009.12:g.6550845G>A	-
GLDC	P23378	p.Arg843Gln	rs1422108790	missense variant	-	NC_000009.12:g.6550844C>T	TOPMed,gnomAD
GLDC	P23378	p.Leu844Val	rs776466233	missense variant	-	NC_000009.12:g.6550842A>C	ExAC,gnomAD
GLDC	P23378	p.Leu844Ter	rs770743220	stop gained	-	NC_000009.12:g.6550841A>C	ExAC,gnomAD
GLDC	P23378	p.Glu845Gly	rs921775044	missense variant	-	NC_000009.12:g.6550838T>C	TOPMed
GLDC	P23378	p.Thr846Ile	rs747336541	missense variant	-	NC_000009.12:g.6550835G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr846Lys	rs747336541	missense variant	-	NC_000009.12:g.6550835G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr846Ile	RCV000550385	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550835G>A	ClinVar
GLDC	P23378	p.His847Arg	rs1272391117	missense variant	-	NC_000009.12:g.6550832T>C	gnomAD
GLDC	P23378	p.Tyr848Ter	rs1554643354	stop gained	-	NC_000009.12:g.6550828G>C	-
GLDC	P23378	p.Tyr848Ter	RCV000499785	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550828G>C	ClinVar
GLDC	P23378	p.Arg849Lys	rs772624934	missense variant	-	NC_000009.12:g.6550826C>T	ExAC,gnomAD
GLDC	P23378	p.Arg849Gly	rs778000679	missense variant	-	NC_000009.12:g.6550827T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg849Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6550826C>A	NCI-TCGA
GLDC	P23378	p.Arg849Gly	RCV000638283	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550827T>C	ClinVar
GLDC	P23378	p.Leu851Pro	rs753948580	missense variant	-	NC_000009.12:g.6550820A>G	ExAC,gnomAD
GLDC	P23378	p.Leu851Arg	rs753948580	missense variant	-	NC_000009.12:g.6550820A>C	ExAC,gnomAD
GLDC	P23378	p.Phe852Leu	rs201654583	missense variant	-	NC_000009.12:g.6550816G>C	ExAC,gnomAD
GLDC	P23378	p.Arg853Ser	rs1388179193	missense variant	-	NC_000009.12:g.6550813C>G	TOPMed
GLDC	P23378	p.Gly854Asp	rs1271552143	missense variant	-	NC_000009.12:g.6550811C>T	gnomAD
GLDC	P23378	p.Ala855Val	rs764251972	missense variant	-	NC_000009.12:g.6550808G>A	ExAC,gnomAD
GLDC	P23378	p.Ala855Thr	rs751302524	missense variant	-	NC_000009.12:g.6550809C>T	ExAC,gnomAD
GLDC	P23378	p.Ala855Ser	rs751302524	missense variant	-	NC_000009.12:g.6550809C>A	ExAC,gnomAD
GLDC	P23378	p.Ala855Val	RCV000367344	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550808G>A	ClinVar
GLDC	P23378	p.Arg856Thr	rs1229379078	missense variant	-	NC_000009.12:g.6550805C>G	TOPMed
GLDC	P23378	p.Gly857Asp	rs1455180063	missense variant	-	NC_000009.12:g.6540146C>T	gnomAD
GLDC	P23378	p.Tyr858Ser	rs760349866	missense variant	-	NC_000009.12:g.6540143T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Tyr858Ter	RCV000049492	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540142A>C	ClinVar
GLDC	P23378	p.Tyr858Ter	rs386833564	stop gained	-	NC_000009.12:g.6540142A>C	ExAC,gnomAD
GLDC	P23378	p.Tyr858Cys	rs760349866	missense variant	-	NC_000009.12:g.6540143T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly860Arg	RCV000673148	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540138C>G	ClinVar
GLDC	P23378	p.Gly860Ser	rs753759723	missense variant	-	NC_000009.12:g.6540138C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gly860Arg	rs753759723	missense variant	-	NC_000009.12:g.6540138C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu862Lys	RCV000671933	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540132C>T	ClinVar
GLDC	P23378	p.Glu862Lys	rs925908885	missense variant	-	NC_000009.12:g.6540132C>T	TOPMed
GLDC	P23378	p.Glu862Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.6540132C>A	NCI-TCGA
GLDC	P23378	p.Leu865Phe	rs1376105769	missense variant	-	NC_000009.12:g.6540121C>A	TOPMed,gnomAD
GLDC	P23378	p.Leu865Met	rs375375700	missense variant	-	NC_000009.12:g.6540123A>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp866His	VAR_078790	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
GLDC	P23378	p.Thr867Met	rs749852046	missense variant	-	NC_000009.12:g.6540116G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr867Arg	rs749852046	missense variant	-	NC_000009.12:g.6540116G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg868Ser	rs1314992704	missense variant	-	NC_000009.12:g.6540112T>G	gnomAD
GLDC	P23378	p.Arg868Thr	rs1376198157	missense variant	-	NC_000009.12:g.6540113C>G	gnomAD
GLDC	P23378	p.Pro869Ser	rs143130333	missense variant	-	NC_000009.12:g.6540111G>A	ESP
GLDC	P23378	p.Pro869Arg	rs781220200	missense variant	-	NC_000009.12:g.6540110G>C	ExAC,gnomAD
GLDC	P23378	p.Phe870Leu	COSM1314870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6540106G>C	NCI-TCGA Cosmic
GLDC	P23378	p.Phe870Ter	RCV000517457	frameshift	-	NC_000009.12:g.6540111dup	ClinVar
GLDC	P23378	p.Lys871Asn	COSM1472296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6540103T>G	NCI-TCGA Cosmic
GLDC	P23378	p.Lys871Arg	rs766244892	missense variant	-	NC_000009.12:g.6540104T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Lys872Ter	RCV000526391	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540102T>A	ClinVar
GLDC	P23378	p.Lys872Ter	rs1430968530	stop gained	-	NC_000009.12:g.6540102T>A	TOPMed
GLDC	P23378	p.Lys872Asn	rs778913771	missense variant	-	NC_000009.12:g.6540100C>G	ExAC,gnomAD
GLDC	P23378	p.Ser873Pro	rs754965210	missense variant	-	NC_000009.12:g.6540099A>G	ExAC,gnomAD
GLDC	P23378	p.Ala874Val	rs1180086083	missense variant	-	NC_000009.12:g.6540095G>A	gnomAD
GLDC	P23378	p.Asn875Tyr	COSM754385	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6540093T>A	NCI-TCGA Cosmic
GLDC	P23378	p.Ile876Val	rs1485044852	missense variant	-	NC_000009.12:g.6540090T>C	gnomAD
GLDC	P23378	p.Ile876Thr	rs1257670858	missense variant	-	NC_000009.12:g.6540089A>G	gnomAD
GLDC	P23378	p.Glu877Ter	rs765893483	stop gained	-	NC_000009.12:g.6540087C>A	ExAC,gnomAD
GLDC	P23378	p.Glu877Lys	rs765893483	missense variant	-	NC_000009.12:g.6540087C>T	ExAC,gnomAD
GLDC	P23378	p.Val879Met	rs953517027	missense variant	-	NC_000009.12:g.6540081C>T	TOPMed
GLDC	P23378	p.Asp880Val	RCV000049494	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540077T>A	ClinVar
GLDC	P23378	p.Asp880Val	rs386833566	missense variant	-	NC_000009.12:g.6540077T>A	-
GLDC	P23378	p.Arg884Gly	rs1057515606	missense variant	-	NC_000009.12:g.6540066T>C	-
GLDC	P23378	p.Arg884Gly	RCV000312689	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540066T>C	ClinVar
GLDC	P23378	p.Arg884Ile	rs755531632	missense variant	-	NC_000009.12:g.6540065C>A	ExAC,gnomAD
GLDC	P23378	p.Leu885Pro	rs749981093	missense variant	-	NC_000009.12:g.6540062A>G	ExAC,gnomAD
GLDC	P23378	p.Gln886Ter	rs386833567	stop gained	-	NC_000009.12:g.6540060G>A	-
GLDC	P23378	p.Gln886Ter	RCV000049495	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540060G>A	ClinVar
GLDC	P23378	p.Asp887Gly	rs1465890600	missense variant	-	NC_000009.12:g.6540056T>C	TOPMed
GLDC	P23378	p.Gly889Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.6540051C>A	NCI-TCGA
GLDC	P23378	p.Phe890Leu	rs760961076	missense variant	-	NC_000009.12:g.6536232A>C	ExAC,gnomAD
GLDC	P23378	p.Ala892Thr	rs146939116	missense variant	-	NC_000009.12:g.6536228C>T	ESP,ExAC,gnomAD
GLDC	P23378	p.Pro893Leu	rs367987650	missense variant	-	NC_000009.12:g.6536224G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro893Arg	rs367987650	missense variant	-	NC_000009.12:g.6536224G>C	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met895Val	rs141152043	missense variant	-	NC_000009.12:g.6536219T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met895Thr	rs769606225	missense variant	-	NC_000009.12:g.6536218A>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met895Val	RCV000277386	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536219T>C	ClinVar
GLDC	P23378	p.Met895Thr	RCV000538592	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536218A>G	ClinVar
GLDC	P23378	p.Pro898Leu	rs1252033640	missense variant	-	NC_000009.12:g.6536209G>A	gnomAD
GLDC	P23378	p.Val899Ala	rs1297487589	missense variant	-	NC_000009.12:g.6536206A>G	TOPMed,gnomAD
GLDC	P23378	p.Gly901Glu	rs751089321	missense variant	-	NC_000009.12:g.6536200C>T	ExAC,gnomAD
GLDC	P23378	p.Gly901Trp	rs756807420	missense variant	-	NC_000009.12:g.6536201C>A	ExAC,gnomAD
GLDC	P23378	p.Thr902Ala	rs758046295	missense variant	-	NC_000009.12:g.6536198T>C	ExAC,gnomAD
GLDC	P23378	p.Met904Thr	COSM6183600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6536191A>G	NCI-TCGA Cosmic
GLDC	P23378	p.Val905Gly	rs188269735	missense variant	-	NC_000009.12:g.6536188A>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro907Thr	rs1397798991	missense variant	-	NC_000009.12:g.6536183G>T	TOPMed
GLDC	P23378	p.Thr908Ala	rs1392831652	missense variant	-	NC_000009.12:g.6536180T>C	gnomAD
GLDC	P23378	p.Ser910Leu	rs759933539	missense variant	-	NC_000009.12:g.6536173G>A	ExAC,gnomAD
GLDC	P23378	p.Ser910Leu	RCV000670164	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536173G>A	ClinVar
GLDC	P23378	p.Glu911Gln	rs1390157911	missense variant	-	NC_000009.12:g.6536171C>G	gnomAD
GLDC	P23378	p.Glu911Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6536169C>A	NCI-TCGA
GLDC	P23378	p.Asp912Gly	rs767018561	missense variant	-	NC_000009.12:g.6536167T>C	ExAC,gnomAD
GLDC	P23378	p.Lys913Asn	rs1337129143	missense variant	-	NC_000009.12:g.6536163C>G	TOPMed
GLDC	P23378	p.Ala914Val	rs1320682192	missense variant	-	NC_000009.12:g.6536161G>A	TOPMed,gnomAD
GLDC	P23378	p.Leu916Met	rs773430894	missense variant	-	NC_000009.12:g.6536156G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Leu916Val	rs773430894	missense variant	-	NC_000009.12:g.6536156G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp917His	rs370297328	missense variant	-	NC_000009.12:g.6536153C>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Cys920Phe	rs769670556	missense variant	-	NC_000009.12:g.6536143C>A	ExAC,gnomAD
GLDC	P23378	p.Cys920Tyr	rs769670556	missense variant	-	NC_000009.12:g.6536143C>T	ExAC,gnomAD
GLDC	P23378	p.Asp921Ala	rs1196726569	missense variant	-	NC_000009.12:g.6536140T>G	TOPMed
GLDC	P23378	p.Ala922Ser	rs1305278291	missense variant	-	NC_000009.12:g.6536138C>A	gnomAD
GLDC	P23378	p.Ala922Thr	rs1305278291	missense variant	-	NC_000009.12:g.6536138C>T	gnomAD
GLDC	P23378	p.Ile924Phe	rs1236636035	missense variant	-	NC_000009.12:g.6536132T>A	gnomAD
GLDC	P23378	p.Ser925Cys	rs745769719	missense variant	-	NC_000009.12:g.6536129T>A	ExAC,gnomAD
GLDC	P23378	p.Ser925Thr	rs781057291	missense variant	-	NC_000009.12:g.6536128C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg927Trp	rs552072250	missense variant	-	NC_000009.12:g.6536123G>A	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Arg927Gln	rs934940369	missense variant	-	NC_000009.12:g.6536122C>T	TOPMed
GLDC	P23378	p.Gln928Arg	rs1373140994	missense variant	-	NC_000009.12:g.6536119T>C	gnomAD
GLDC	P23378	p.Ala931Val	COSM1109539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6536110G>A	NCI-TCGA Cosmic
GLDC	P23378	p.Ala931Thr	RCV000443273	missense variant	-	NC_000009.12:g.6536111C>T	ClinVar
GLDC	P23378	p.Ala931Thr	rs1057520185	missense variant	-	NC_000009.12:g.6536111C>T	-
GLDC	P23378	p.Ile933Thr	rs758029533	missense variant	-	NC_000009.12:g.6536104A>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile933Phe	COSM1285167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6536105T>A	NCI-TCGA Cosmic
GLDC	P23378	p.Ile933Asn	rs758029533	missense variant	-	NC_000009.12:g.6536104A>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile933Met	rs747879174	missense variant	-	NC_000009.12:g.6536103A>C	ExAC,gnomAD
GLDC	P23378	p.Ile933Leu	rs1186573360	missense variant	-	NC_000009.12:g.6536105T>G	gnomAD
GLDC	P23378	p.Ile933Asn	RCV000531648	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536104A>T	ClinVar
GLDC	P23378	p.Ile933Thr	RCV000666803	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536104A>G	ClinVar
GLDC	P23378	p.Glu934Asp	rs754188922	missense variant	-	NC_000009.12:g.6536100C>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu934Gly	rs779129201	missense variant	-	NC_000009.12:g.6536101T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu934Asp	rs754188922	missense variant	-	NC_000009.12:g.6536100C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu935Lys	rs1421362604	missense variant	-	NC_000009.12:g.6536099C>T	TOPMed
GLDC	P23378	p.Gly936Ser	rs190995960	missense variant	-	NC_000009.12:g.6536096C>T	1000Genomes
GLDC	P23378	p.Arg937Pro	rs151100082	missense variant	-	NC_000009.12:g.6536092C>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg937Cys	rs766928717	missense variant	-	NC_000009.12:g.6536093G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg937His	rs151100082	missense variant	-	NC_000009.12:g.6536092C>T	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Arg937Ser	rs766928717	missense variant	-	NC_000009.12:g.6536093G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile938Met	rs750518195	missense variant	-	NC_000009.12:g.6536088G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp939His	rs767772993	missense variant	-	NC_000009.12:g.6536087C>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asp939Asn	rs767772993	missense variant	-	NC_000009.12:g.6536087C>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro940Ser	rs559923220	missense variant	-	NC_000009.12:g.6536084G>A	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Val942Ile	rs1234623904	missense variant	-	NC_000009.12:g.6536078C>T	TOPMed
GLDC	P23378	p.Pro944Leu	rs374969047	missense variant	-	NC_000009.12:g.6536071G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met947Ile	RCV000672828	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534786C>T	ClinVar
GLDC	P23378	p.Met947Ile	rs1214310966	missense variant	-	NC_000009.12:g.6534786C>T	gnomAD
GLDC	P23378	p.Pro949Leu	RCV000049498	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534781G>A	ClinVar
GLDC	P23378	p.Pro949Leu	rs386833570	missense variant	-	NC_000009.12:g.6534781G>A	-
GLDC	P23378	p.His950Arg	rs201921746	missense variant	-	NC_000009.12:g.6534778T>C	1000Genomes
GLDC	P23378	p.Ser951Tyr	rs147472391	missense variant	-	NC_000009.12:g.6534775G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser951Tyr	RCV000669842	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534775G>T	ClinVar
GLDC	P23378	p.Ser951Phe	rs147472391	missense variant	-	NC_000009.12:g.6534775G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr953Ile	rs749015687	missense variant	-	NC_000009.12:g.6534769G>A	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr953Ser	rs749015687	missense variant	-	NC_000009.12:g.6534769G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Val955Ile	rs148540696	missense variant	-	NC_000009.12:g.6534764C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr956Ile	rs1439114717	missense variant	-	NC_000009.12:g.6534760G>A	gnomAD
GLDC	P23378	p.Ser957Pro	RCV000049499	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534758A>G	ClinVar
GLDC	P23378	p.Ser957Pro	rs386833571	missense variant	-	NC_000009.12:g.6534758A>G	ExAC,gnomAD
GLDC	P23378	p.Ser958Phe	rs1327144941	missense variant	-	NC_000009.12:g.6534754G>A	gnomAD
GLDC	P23378	p.His959Asn	rs757705918	missense variant	-	NC_000009.12:g.6534752G>T	ExAC
GLDC	P23378	p.His959Pro	rs572523552	missense variant	-	NC_000009.12:g.6534751T>G	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.His959Arg	rs572523552	missense variant	-	NC_000009.12:g.6534751T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Trp960Arg	rs370831180	missense variant	-	NC_000009.12:g.6534749A>G	ESP,ExAC,gnomAD
GLDC	P23378	p.Trp960Ter	rs1410625190	stop gained	-	NC_000009.12:g.6534748C>T	TOPMed,gnomAD
GLDC	P23378	p.Asp961Asn	rs758639160	missense variant	-	NC_000009.12:g.6534746C>T	ExAC,gnomAD
GLDC	P23378	p.Arg962Trp	rs1172061571	missense variant	-	NC_000009.12:g.6534743G>A	gnomAD
GLDC	P23378	p.Arg962Gln	rs1452327155	missense variant	-	NC_000009.12:g.6534742C>T	gnomAD
GLDC	P23378	p.Tyr964Ter	rs386833572	stop gained	-	NC_000009.12:g.6534736dup	-
GLDC	P23378	p.Tyr964Ter	rs752968941	stop gained	-	NC_000009.12:g.6534735A>T	ExAC,gnomAD
GLDC	P23378	p.Tyr964Asp	rs916926569	missense variant	-	NC_000009.12:g.6534737A>C	TOPMed
GLDC	P23378	p.Tyr964Ter	RCV000674486	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534740dup	ClinVar
GLDC	P23378	p.Tyr964Ter	RCV000049583	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534736dup	ClinVar
GLDC	P23378	p.Ser965Phe	rs1489390970	missense variant	-	NC_000009.12:g.6534733G>A	gnomAD
GLDC	P23378	p.Arg966Gly	rs386833573	missense variant	-	NC_000009.12:g.6534731T>C	-
GLDC	P23378	p.Arg966Gly	RCV000049500	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534731T>C	ClinVar
GLDC	P23378	p.Glu967Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.6534728C>A	NCI-TCGA
GLDC	P23378	p.Val968Ala	rs554230348	missense variant	-	NC_000009.12:g.6534724A>G	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro972Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.6534713G>A	NCI-TCGA
GLDC	P23378	p.Leu973Ile	rs1203164479	missense variant	-	NC_000009.12:g.6534710G>T	TOPMed,gnomAD
GLDC	P23378	p.Leu973Val	rs1203164479	missense variant	-	NC_000009.12:g.6534710G>C	TOPMed,gnomAD
GLDC	P23378	p.Pro974Ser	rs949553434	missense variant	-	NC_000009.12:g.6533160G>A	gnomAD
GLDC	P23378	p.Pro974Thr	rs949553434	missense variant	-	NC_000009.12:g.6533160G>T	gnomAD
GLDC	P23378	p.Phe975Ser	rs777045138	missense variant	-	NC_000009.12:g.6533156A>G	ExAC,gnomAD
GLDC	P23378	p.Val976Met	rs150624881	missense variant	-	NC_000009.12:g.6533154C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro978Gln	rs747426447	missense variant	-	NC_000009.12:g.6533147G>T	ExAC,gnomAD
GLDC	P23378	p.Glu979Asp	rs1271866161	missense variant	-	NC_000009.12:g.6533143C>G	gnomAD
GLDC	P23378	p.Glu979Ala	rs550514750	missense variant	-	NC_000009.12:g.6533144T>G	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Glu979Ala	RCV000551990	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533144T>G	ClinVar
GLDC	P23378	p.Asn980Asp	rs772574530	missense variant	-	NC_000009.12:g.6533142T>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Asn980Lys	rs1335607734	missense variant	-	NC_000009.12:g.6533140G>C	gnomAD
GLDC	P23378	p.Asn980Asp	RCV000532564	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533142T>C	ClinVar
GLDC	P23378	p.Phe982Leu	rs1315087432	missense variant	-	NC_000009.12:g.6533136A>G	gnomAD
GLDC	P23378	p.Phe982Leu	rs1270215089	missense variant	-	NC_000009.12:g.6533134G>T	TOPMed
GLDC	P23378	p.Trp983Ter	RCV000674186	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533132C>T	ClinVar
GLDC	P23378	p.Trp983Arg	rs1057515605	missense variant	-	NC_000009.12:g.6533133A>G	-
GLDC	P23378	p.Trp983Ter	rs1554641519	stop gained	-	NC_000009.12:g.6533132C>T	-
GLDC	P23378	p.Trp983Arg	RCV000301870	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533133A>G	ClinVar
GLDC	P23378	p.Thr985Met	rs369837674	missense variant	-	NC_000009.12:g.6533126G>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile986Phe	rs140028660	missense variant	-	NC_000009.12:g.6533124T>A	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ala987Gly	rs925268812	missense variant	-	NC_000009.12:g.6533120G>C	TOPMed
GLDC	P23378	p.Ala987Val	rs925268812	missense variant	-	NC_000009.12:g.6533120G>A	TOPMed
GLDC	P23378	p.Arg988Trp	rs1288008254	missense variant	-	NC_000009.12:g.6533118G>A	gnomAD
GLDC	P23378	p.Arg988Gln	rs749512886	missense variant	-	NC_000009.12:g.6533117C>T	ExAC,gnomAD
GLDC	P23378	p.Arg988Trp	RCV000670172	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533118G>A	ClinVar
GLDC	P23378	p.Arg988Gly	rs1288008254	missense variant	-	NC_000009.12:g.6533118G>C	gnomAD
GLDC	P23378	p.Arg988Pro	rs749512886	missense variant	-	NC_000009.12:g.6533117C>G	ExAC,gnomAD
GLDC	P23378	p.Arg988Gln	RCV000669902	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533117C>T	ClinVar
GLDC	P23378	p.Ile989Thr	rs149336868	missense variant	-	NC_000009.12:g.6533114A>G	ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ile989Met	rs951774955	missense variant	-	NC_000009.12:g.6533113A>C	TOPMed,gnomAD
GLDC	P23378	p.Ile989Val	rs1162754179	missense variant	-	NC_000009.12:g.6533115T>C	gnomAD
GLDC	P23378	p.Asp990His	rs751400703	missense variant	-	NC_000009.12:g.6533112C>G	ExAC,gnomAD
GLDC	P23378	p.Asp991Asn	rs758421388	missense variant	-	NC_000009.12:g.6533109C>T	ExAC,gnomAD
GLDC	P23378	p.Ile992Thr	rs752239336	missense variant	-	NC_000009.12:g.6533105A>G	ExAC,gnomAD
GLDC	P23378	p.Tyr993Cys	rs1187433357	missense variant	-	NC_000009.12:g.6533102T>C	TOPMed,gnomAD
GLDC	P23378	p.Gly994Arg	rs1406713104	missense variant	-	NC_000009.12:g.6533100C>T	TOPMed
GLDC	P23378	p.Gly994Arg	RCV000664682	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533100C>T	ClinVar
GLDC	P23378	p.Asp995Asn	rs1554641505	missense variant	-	NC_000009.12:g.6533097C>T	-
GLDC	P23378	p.Asp995Asn	RCV000670173	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533097C>T	ClinVar
GLDC	P23378	p.Gln996His	RCV000391827	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533092C>G	ClinVar
GLDC	P23378	p.Gln996Glu	rs1296191006	missense variant	-	NC_000009.12:g.6533094G>C	TOPMed
GLDC	P23378	p.Gln996His	rs138640017	missense variant	-	NC_000009.12:g.6533092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Gln996Ter	RCV000697307	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533094G>A	ClinVar
GLDC	P23378	p.His997Gln	rs757398632	missense variant	-	NC_000009.12:g.6533089G>C	gnomAD
GLDC	P23378	p.Cys1000Phe	rs776192576	missense variant	-	NC_000009.12:g.6533081C>A	ExAC,gnomAD
GLDC	P23378	p.Thr1001Ser	rs555776146	missense variant	-	NC_000009.12:g.6533078G>C	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr1001Ile	rs555776146	missense variant	-	NC_000009.12:g.6533078G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr1001Asn	rs555776146	missense variant	-	NC_000009.12:g.6533078G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Thr1001Ala	rs1370996204	missense variant	-	NC_000009.12:g.6533079T>C	gnomAD
GLDC	P23378	p.Cys1002Trp	rs1333400037	missense variant	-	NC_000009.12:g.6533074G>C	gnomAD
GLDC	P23378	p.Pro1003Ser	rs751846463	missense variant	-	NC_000009.12:g.6533073G>A	TOPMed,gnomAD
GLDC	P23378	p.Pro1004Ser	COSM1109537	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6533070G>A	NCI-TCGA Cosmic
GLDC	P23378	p.Pro1004His	rs772557873	missense variant	-	NC_000009.12:g.6533069G>T	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Pro1004Ala	rs773642256	missense variant	-	NC_000009.12:g.6533070G>C	ExAC,TOPMed,gnomAD
GLDC	P23378	p.Met1005Ile	rs192587467	missense variant	-	NC_000009.12:g.6533065C>T	1000Genomes,TOPMed
GLDC	P23378	p.Met1005Lys	rs1423098953	missense variant	-	NC_000009.12:g.6533066A>T	gnomAD
GLDC	P23378	p.Met1005Ile	rs192587467	missense variant	-	NC_000009.12:g.6533065C>G	1000Genomes,TOPMed
GLDC	P23378	p.Met1005Ile	rs192587467	missense variant	-	NC_000009.12:g.6533065C>A	1000Genomes,TOPMed
GLDC	P23378	p.Val1007Ile	rs112299567	missense variant	-	NC_000009.12:g.6533061C>T	TOPMed
GLDC	P23378	p.Glu1009Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.6533055C>A	NCI-TCGA
GLDC	P23378	p.Pro1011Ser	COSM1109536	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6533049G>A	NCI-TCGA Cosmic
GLDC	P23378	p.Phe1012HisPheSerTerUnkUnk	COSM1490060	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.6533047_6533048insGG	NCI-TCGA Cosmic
GLDC	P23378	p.Glu1014Ter	RCV000673229	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533040C>A	ClinVar
GLDC	P23378	p.Glu1014Ter	rs1444245039	stop gained	-	NC_000009.12:g.6533040C>A	TOPMed
GLDC	P23378	p.Glu1014Gln	rs1444245039	missense variant	-	NC_000009.12:g.6533040C>G	TOPMed
GLDC	P23378	p.Gln1015Lys	rs1323802653	missense variant	-	NC_000009.12:g.6533037G>T	gnomAD
GLDC	P23378	p.Gln1015Ter	rs1323802653	stop gained	-	NC_000009.12:g.6533037G>A	gnomAD
GLDC	P23378	p.Gln1015Pro	rs774386131	missense variant	-	NC_000009.12:g.6533036T>G	ExAC,gnomAD
GLDC	P23378	p.Lys1016Asn	rs1034808665	missense variant	-	NC_000009.12:g.6533032C>G	TOPMed,gnomAD
GLDC	P23378	p.Arg1017Lys	rs1294726700	missense variant	-	NC_000009.12:g.6533030C>T	gnomAD
GLDC	P23378	p.Ala1018Val	rs150149798	missense variant	-	NC_000009.12:g.6533027G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLDC	P23378	p.Ser1020Ala	rs533019569	missense variant	-	NC_000009.12:g.6533022A>C	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Ser1020Thr	rs533019569	missense variant	-	NC_000009.12:g.6533022A>T	1000Genomes,ExAC,gnomAD
GLDC	P23378	p.Ser1020Phe	rs1003297138	missense variant	-	NC_000009.12:g.6533021G>A	TOPMed,gnomAD
GLDC	P23378	p.Ter1021Leu	rs200053325	stop lost	-	NC_000009.12:g.6533018T>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala2Val	rs1010934600	missense variant	-	NC_000001.11:g.18631608C>T	gnomAD
PAX7	P23759	p.Ala2Thr	rs900671673	missense variant	-	NC_000001.11:g.18631607G>A	TOPMed,gnomAD
PAX7	P23759	p.Ala2Glu	rs1010934600	missense variant	-	NC_000001.11:g.18631608C>A	gnomAD
PAX7	P23759	p.Ala2Thr	rs900671673	missense variant	-	NC_000001.11:g.18631607G>A	NCI-TCGA Cosmic
PAX7	P23759	p.Ala2Pro	rs900671673	missense variant	-	NC_000001.11:g.18631607G>C	TOPMed,gnomAD
PAX7	P23759	p.Ala3Thr	rs1408219425	missense variant	-	NC_000001.11:g.18631610G>A	TOPMed
PAX7	P23759	p.Ala3Gly	rs529809505	missense variant	-	NC_000001.11:g.18631611C>G	1000Genomes,ExAC,gnomAD
PAX7	P23759	p.Leu4Pro	rs1020540728	missense variant	-	NC_000001.11:g.18631614T>C	gnomAD
PAX7	P23759	p.Gly6Ala	rs751581027	missense variant	-	NC_000001.11:g.18631620G>C	ExAC,gnomAD
PAX7	P23759	p.Thr7Met	rs1233016020	missense variant	-	NC_000001.11:g.18631623C>T	TOPMed,gnomAD
PAX7	P23759	p.Pro9Ser	rs1053554548	missense variant	-	NC_000001.11:g.18631628C>T	TOPMed,gnomAD
PAX7	P23759	p.Pro9Arg	rs748250427	missense variant	-	NC_000001.11:g.18631629C>G	ExAC,gnomAD
PAX7	P23759	p.Met11Val	rs1245015415	missense variant	-	NC_000001.11:g.18631634A>G	TOPMed
PAX7	P23759	p.Met12Leu	rs1487673028	missense variant	-	NC_000001.11:g.18631637A>T	gnomAD
PAX7	P23759	p.Met12Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18631637A>G	NCI-TCGA
PAX7	P23759	p.Arg13Gln	rs1263376207	missense variant	-	NC_000001.11:g.18631641G>A	gnomAD
PAX7	P23759	p.Pro14Leu	rs566629103	missense variant	-	NC_000001.11:g.18631644C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro14Gln	rs566629103	missense variant	-	NC_000001.11:g.18631644C>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro14Thr	rs778012759	missense variant	-	NC_000001.11:g.18631643C>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala15Thr	rs1156773115	missense variant	-	NC_000001.11:g.18631646G>A	gnomAD
PAX7	P23759	p.Ala15Val	rs1360031571	missense variant	-	NC_000001.11:g.18631647C>T	TOPMed,gnomAD
PAX7	P23759	p.Pro16Ala	rs746324287	missense variant	-	NC_000001.11:g.18631649C>G	ExAC,gnomAD
PAX7	P23759	p.Pro16Leu	rs1033982888	missense variant	-	NC_000001.11:g.18631650C>T	gnomAD
PAX7	P23759	p.Pro16Arg	rs1033982888	missense variant	-	NC_000001.11:g.18631650C>G	gnomAD
PAX7	P23759	p.Gly17Trp	rs1304640961	missense variant	-	NC_000001.11:g.18631652G>T	gnomAD
PAX7	P23759	p.Asn19Ser	rs776238209	missense variant	-	NC_000001.11:g.18631659A>G	ExAC,gnomAD
PAX7	P23759	p.Asn19Lys	rs200862549	missense variant	-	NC_000001.11:g.18631660C>G	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg22Ser	rs764959341	missense variant	-	NC_000001.11:g.18631667C>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg22Gly	rs764959341	missense variant	-	NC_000001.11:g.18631667C>G	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg22Leu	rs552417333	missense variant	-	NC_000001.11:g.18631668G>T	1000Genomes,ExAC,gnomAD
PAX7	P23759	p.Arg22Cys	rs764959341	missense variant	-	NC_000001.11:g.18631667C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg22AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.18631663C>-	NCI-TCGA
PAX7	P23759	p.Thr23Met	rs762651087	missense variant	-	NC_000001.11:g.18631671C>T	ExAC,gnomAD
PAX7	P23759	p.Gly24Arg	rs1208860030	missense variant	-	NC_000001.11:g.18631673G>A	gnomAD
PAX7	P23759	p.Gly24Arg	rs1208860030	missense variant	-	NC_000001.11:g.18631673G>A	NCI-TCGA
PAX7	P23759	p.Phe25Tyr	rs1250059656	missense variant	-	NC_000001.11:g.18631677T>A	TOPMed
PAX7	P23759	p.Phe25Ile	rs1455400108	missense variant	-	NC_000001.11:g.18631676T>A	gnomAD
PAX7	P23759	p.Pro26Ala	rs570631887	missense variant	-	NC_000001.11:g.18631679C>G	1000Genomes,ExAC,gnomAD
PAX7	P23759	p.Pro26Ser	rs570631887	missense variant	-	NC_000001.11:g.18631679C>T	1000Genomes,ExAC,gnomAD
PAX7	P23759	p.Val29Met	rs1419562715	missense variant	-	NC_000001.11:g.18631688G>A	gnomAD
PAX7	P23759	p.Ser30Phe	rs1307853137	missense variant	-	NC_000001.11:g.18634306C>T	gnomAD
PAX7	P23759	p.Pro32Gln	rs145325556	missense variant	-	NC_000001.11:g.18634312C>A	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro32Leu	rs145325556	missense variant	-	NC_000001.11:g.18634312C>T	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Leu33Phe	rs777288492	missense variant	-	NC_000001.11:g.18634314C>T	ExAC,gnomAD
PAX7	P23759	p.Gly36Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18634323G>A	NCI-TCGA
PAX7	P23759	p.Arg37Pro	rs140779169	missense variant	-	NC_000001.11:g.18634327G>C	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg37Gln	rs140779169	missense variant	-	NC_000001.11:g.18634327G>A	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg37Trp	rs748780342	missense variant	-	NC_000001.11:g.18634326C>T	ExAC,gnomAD
PAX7	P23759	p.Val38Phe	rs1351630881	missense variant	-	NC_000001.11:g.18634329G>T	TOPMed
PAX7	P23759	p.Val38Ala	rs1193215383	missense variant	-	NC_000001.11:g.18634330T>C	gnomAD
PAX7	P23759	p.Gln40Arg	rs1420722398	missense variant	-	NC_000001.11:g.18634336A>G	gnomAD
PAX7	P23759	p.Gln40Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.18634335C>T	NCI-TCGA
PAX7	P23759	p.Leu41Val	rs773926036	missense variant	-	NC_000001.11:g.18634338C>G	ExAC,gnomAD
PAX7	P23759	p.Gly43Ala	rs895698878	missense variant	-	NC_000001.11:g.18634345G>C	TOPMed
PAX7	P23759	p.Gly43Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18634344G>A	NCI-TCGA
PAX7	P23759	p.Val44Ile	rs1451904879	missense variant	-	NC_000001.11:g.18634347G>A	TOPMed
PAX7	P23759	p.Ile46Thr	rs1435811742	missense variant	-	NC_000001.11:g.18634354T>C	gnomAD
PAX7	P23759	p.Arg49Gln	rs141114867	missense variant	-	NC_000001.11:g.18634363G>A	ESP,TOPMed,gnomAD
PAX7	P23759	p.Arg49Ter	rs146503374	stop gained	-	NC_000001.11:g.18634362C>T	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro50Ala	rs760553363	missense variant	-	NC_000001.11:g.18634365C>G	ExAC,gnomAD
PAX7	P23759	p.Pro52Ser	rs201315560	missense variant	-	NC_000001.11:g.18634371C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Asn53Ser	rs1347061851	missense variant	-	NC_000001.11:g.18634375A>G	TOPMed,gnomAD
PAX7	P23759	p.Asn53His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18634374A>C	NCI-TCGA
PAX7	P23759	p.His54Tyr	rs765482064	missense variant	-	NC_000001.11:g.18634377C>T	ExAC,gnomAD
PAX7	P23759	p.Arg56His	rs750738891	missense variant	-	NC_000001.11:g.18634384G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg56Cys	rs1392068839	missense variant	-	NC_000001.11:g.18634383C>T	NCI-TCGA
PAX7	P23759	p.Arg56Leu	rs750738891	missense variant	-	NC_000001.11:g.18634384G>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg56Cys	rs1392068839	missense variant	-	NC_000001.11:g.18634383C>T	TOPMed
PAX7	P23759	p.Lys58Arg	rs758697873	missense variant	-	NC_000001.11:g.18634390A>G	ExAC,gnomAD
PAX7	P23759	p.Val60Leu	COSM75853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18634395G>C	NCI-TCGA Cosmic
PAX7	P23759	p.Val60Glu	rs905723129	missense variant	-	NC_000001.11:g.18634396T>A	TOPMed
PAX7	P23759	p.Glu61Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18634400G>C	NCI-TCGA
PAX7	P23759	p.Met62Ile	rs1394269546	missense variant	-	NC_000001.11:g.18634403G>T	TOPMed
PAX7	P23759	p.Ala63Val	rs1447737837	missense variant	-	NC_000001.11:g.18634405C>T	TOPMed
PAX7	P23759	p.His64Tyr	rs1311783089	missense variant	-	NC_000001.11:g.18634407C>T	TOPMed
PAX7	P23759	p.His64ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.18634405C>-	NCI-TCGA
PAX7	P23759	p.His65Tyr	rs961831526	missense variant	-	NC_000001.11:g.18634410C>T	gnomAD
PAX7	P23759	p.His65Arg	rs1374679072	missense variant	-	NC_000001.11:g.18634411A>G	TOPMed
PAX7	P23759	p.Gly66Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18634414G>A	NCI-TCGA
PAX7	P23759	p.Ile67Met	rs1476493262	missense variant	-	NC_000001.11:g.18634418C>G	gnomAD
PAX7	P23759	p.Arg68Gln	rs751994360	missense variant	-	NC_000001.11:g.18634420G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Val71Ala	rs971887512	missense variant	-	NC_000001.11:g.18634429T>C	TOPMed,gnomAD
PAX7	P23759	p.Arg74Gln	rs755501864	missense variant	-	NC_000001.11:g.18634438G>A	ExAC,gnomAD
PAX7	P23759	p.Arg74Ter	rs1176071790	stop gained	-	NC_000001.11:g.18634437C>T	gnomAD
PAX7	P23759	p.Arg77Cys	rs567904259	missense variant	-	NC_000001.11:g.18634446C>T	1000Genomes,ExAC,gnomAD
PAX7	P23759	p.Arg77His	rs770407396	missense variant	-	NC_000001.11:g.18634447G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Val83Ile	rs1017007269	missense variant	-	NC_000001.11:g.18634464G>A	TOPMed,gnomAD
PAX7	P23759	p.Ser84Cys	rs1284965343	missense variant	-	NC_000001.11:g.18634468C>G	gnomAD
PAX7	P23759	p.Ile86Thr	rs1368581025	missense variant	-	NC_000001.11:g.18634474T>C	TOPMed
PAX7	P23759	p.Leu87Ile	rs1312917886	missense variant	-	NC_000001.11:g.18634476C>A	gnomAD
PAX7	P23759	p.Leu87Ile	rs1312917886	missense variant	-	NC_000001.11:g.18634476C>A	NCI-TCGA Cosmic
PAX7	P23759	p.Leu87Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18634477T>G	NCI-TCGA
PAX7	P23759	p.Arg89His	rs897257600	missense variant	-	NC_000001.11:g.18634483G>A	NCI-TCGA
PAX7	P23759	p.Arg89His	rs897257600	missense variant	-	NC_000001.11:g.18634483G>A	TOPMed
PAX7	P23759	p.Tyr90Cys	rs1252839601	missense variant	-	NC_000001.11:g.18634486A>G	gnomAD
PAX7	P23759	p.Gln91Ter	rs1469161343	stop gained	-	NC_000001.11:g.18634488C>T	gnomAD
PAX7	P23759	p.Gln91Glu	COSM6060334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18634488C>G	NCI-TCGA Cosmic
PAX7	P23759	p.Gln91Leu	rs760500153	missense variant	-	NC_000001.11:g.18634489A>T	ExAC,gnomAD
PAX7	P23759	p.Glu92Lys	rs768612253	missense variant	-	NC_000001.11:g.18634491G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly94Ala	rs765162614	missense variant	-	NC_000001.11:g.18634498G>C	ExAC,gnomAD
PAX7	P23759	p.Gly94Arg	rs1407999154	missense variant	-	NC_000001.11:g.18634497G>A	gnomAD
PAX7	P23759	p.Ser95Cys	rs1398357710	missense variant	-	NC_000001.11:g.18634501C>G	TOPMed
PAX7	P23759	p.Ile96Thr	rs1393523766	missense variant	-	NC_000001.11:g.18634504T>C	TOPMed,gnomAD
PAX7	P23759	p.Arg97Gln	rs751942968	missense variant	-	NC_000001.11:g.18634507G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg97Gly	rs148832029	missense variant	-	NC_000001.11:g.18634506C>G	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg97Trp	rs148832029	missense variant	-	NC_000001.11:g.18634506C>T	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala100Thr	rs1238170263	missense variant	-	NC_000001.11:g.18634515G>A	gnomAD
PAX7	P23759	p.Gly102Ser	rs369607271	missense variant	-	NC_000001.11:g.18634521G>A	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly103Ser	rs745409821	missense variant	-	NC_000001.11:g.18634524G>A	ExAC,gnomAD
PAX7	P23759	p.Gly103Ser	rs745409821	missense variant	-	NC_000001.11:g.18634524G>A	NCI-TCGA
PAX7	P23759	p.Lys105Asn	rs1259828343	missense variant	-	NC_000001.11:g.18634532G>T	TOPMed
PAX7	P23759	p.Pro106Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18634534C>T	NCI-TCGA
PAX7	P23759	p.Arg107Ser	rs1215976861	missense variant	-	NC_000001.11:g.18634538A>C	gnomAD
PAX7	P23759	p.Ala110Thr	rs1301311331	missense variant	-	NC_000001.11:g.18635117G>A	TOPMed
PAX7	P23759	p.Ala110Val	rs774565338	missense variant	-	NC_000001.11:g.18635118C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Thr111Ile	rs376411971	missense variant	-	NC_000001.11:g.18635121C>T	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro112Leu	rs142754204	missense variant	-	NC_000001.11:g.18635124C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro112Ser	rs1416924724	missense variant	-	NC_000001.11:g.18635123C>T	gnomAD
PAX7	P23759	p.Asp113Asn	rs764601304	missense variant	-	NC_000001.11:g.18635126G>A	ExAC,gnomAD
PAX7	P23759	p.Val114Ile	rs762305801	missense variant	-	NC_000001.11:g.18635129G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Lys116Arg	rs751059274	missense variant	-	NC_000001.11:g.18635136A>G	ExAC,TOPMed
PAX7	P23759	p.Lys117Asn	rs577857072	missense variant	-	NC_000001.11:g.18635140G>C	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Lys117Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18635140G>T	NCI-TCGA
PAX7	P23759	p.Ile118Val	rs780858389	missense variant	-	NC_000001.11:g.18635141A>G	ExAC,gnomAD
PAX7	P23759	p.Ile118Thr	rs1212641020	missense variant	-	NC_000001.11:g.18635142T>C	gnomAD
PAX7	P23759	p.Ile118AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.18635134_18635135insA	NCI-TCGA
PAX7	P23759	p.Glu119Asp	rs1427513742	missense variant	-	NC_000001.11:g.18635146G>C	gnomAD
PAX7	P23759	p.Glu120Gly	rs1050957153	missense variant	-	NC_000001.11:g.18635148A>G	TOPMed
PAX7	P23759	p.TyrLysArgGlu121Ter	rs1399534973	stop gained	-	NC_000001.11:g.18635152_18635160del	TOPMed
PAX7	P23759	p.Tyr121Cys	rs371257583	missense variant	-	NC_000001.11:g.18635151A>G	ESP,ExAC,gnomAD
PAX7	P23759	p.Lys122Arg	rs139680453	missense variant	-	NC_000001.11:g.18635154A>G	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg123Ser	rs777856039	missense variant	-	NC_000001.11:g.18635158G>C	ExAC,gnomAD
PAX7	P23759	p.Glu124Gly	rs1376183368	missense variant	-	NC_000001.11:g.18635160A>G	gnomAD
PAX7	P23759	p.Glu124Gly	rs1376183368	missense variant	-	NC_000001.11:g.18635160A>G	NCI-TCGA
PAX7	P23759	p.Asn125Ser	rs1436634824	missense variant	-	NC_000001.11:g.18635163A>G	gnomAD
PAX7	P23759	p.Pro126Ala	rs770976315	missense variant	-	NC_000001.11:g.18635165C>G	ExAC,gnomAD
PAX7	P23759	p.Met128Leu	rs778904746	missense variant	-	NC_000001.11:g.18635171A>C	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Met128Val	rs778904746	missense variant	-	NC_000001.11:g.18635171A>G	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Met128Ile	rs745925674	missense variant	-	NC_000001.11:g.18635173G>A	ExAC,gnomAD
PAX7	P23759	p.Phe129Tyr	rs368102853	missense variant	-	NC_000001.11:g.18635175T>A	ESP,ExAC,gnomAD
PAX7	P23759	p.Glu132Lys	COSM3480432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18635183G>A	NCI-TCGA Cosmic
PAX7	P23759	p.Ile133Asn	rs1427053032	missense variant	-	NC_000001.11:g.18635187T>A	TOPMed,gnomAD
PAX7	P23759	p.Ile133Thr	rs1427053032	missense variant	-	NC_000001.11:g.18635187T>C	TOPMed,gnomAD
PAX7	P23759	p.Arg134Gln	rs760954795	missense variant	-	NC_000001.11:g.18635190G>A	ExAC,gnomAD
PAX7	P23759	p.Arg134Trp	rs775727650	missense variant	-	NC_000001.11:g.18635189C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg134Leu	COSM4026214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18635190G>T	NCI-TCGA Cosmic
PAX7	P23759	p.Arg134Gln	rs760954795	missense variant	-	NC_000001.11:g.18635190G>A	NCI-TCGA
PAX7	P23759	p.Arg136Ser	rs72937282	missense variant	-	NC_000001.11:g.18635197G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg136Gly	rs1240946523	missense variant	-	NC_000001.11:g.18635195A>G	TOPMed
PAX7	P23759	p.Leu138Pro	rs776969728	missense variant	-	NC_000001.11:g.18635202T>C	ExAC,gnomAD
PAX7	P23759	p.Lys139Glu	rs1205340753	missense variant	-	NC_000001.11:g.18635204A>G	gnomAD
PAX7	P23759	p.Asp140Glu	rs1263667193	missense variant	-	NC_000001.11:g.18635209T>A	gnomAD
PAX7	P23759	p.Gly141Glu	rs762358727	missense variant	-	NC_000001.11:g.18635211G>A	ExAC,gnomAD
PAX7	P23759	p.His142Arg	rs1222049098	missense variant	-	NC_000001.11:g.18635214A>G	TOPMed
PAX7	P23759	p.His142Tyr	rs751061934	missense variant	-	NC_000001.11:g.18635213C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Asp144Glu	rs758413235	missense variant	-	NC_000001.11:g.18635221C>A	gnomAD
PAX7	P23759	p.Asp144Gly	rs767089117	missense variant	-	NC_000001.11:g.18635220A>G	ExAC,gnomAD
PAX7	P23759	p.Arg145Gln	rs755821765	missense variant	-	NC_000001.11:g.18635223G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ser146Arg	rs1360451940	missense variant	-	NC_000001.11:g.18635225A>C	TOPMed,gnomAD
PAX7	P23759	p.Pro149Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18635234C>A	NCI-TCGA
PAX7	P23759	p.Gly151Asp	rs780231726	missense variant	-	NC_000001.11:g.18636237G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ser155Leu	COSM1219383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18636249C>T	NCI-TCGA Cosmic
PAX7	P23759	p.Val159Ala	rs755225721	missense variant	-	NC_000001.11:g.18636261T>C	ExAC,TOPMed
PAX7	P23759	p.Leu160Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18636263C>T	NCI-TCGA
PAX7	P23759	p.Arg161Ile	rs1408550482	missense variant	-	NC_000001.11:g.18636267G>T	gnomAD
PAX7	P23759	p.Phe164Leu	rs748525982	missense variant	-	NC_000001.11:g.18636277C>A	ExAC,gnomAD
PAX7	P23759	p.Phe164Val	rs1170127932	missense variant	-	NC_000001.11:g.18636275T>G	gnomAD
PAX7	P23759	p.Phe164Leu	rs748525982	missense variant	-	NC_000001.11:g.18636277C>G	ExAC,gnomAD
PAX7	P23759	p.Lys167Glu	rs959601623	missense variant	-	NC_000001.11:g.18636284A>G	TOPMed
PAX7	P23759	p.Lys167Thr	rs770129430	missense variant	-	NC_000001.11:g.18636285A>C	ExAC,gnomAD
PAX7	P23759	p.Glu168Val	rs1373090969	missense variant	-	NC_000001.11:g.18636288A>T	gnomAD
PAX7	P23759	p.Glu170Gly	rs771316977	missense variant	-	NC_000001.11:g.18636294A>G	ExAC,gnomAD
PAX7	P23759	p.Glu170Ala	rs771316977	missense variant	-	NC_000001.11:g.18636294A>C	ExAC,gnomAD
PAX7	P23759	p.Asp171Glu	rs760219379	missense variant	-	NC_000001.11:g.18636298T>G	ExAC,gnomAD
PAX7	P23759	p.Ala173Val	rs776359965	missense variant	-	NC_000001.11:g.18636303C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala173Glu	rs776359965	missense variant	-	NC_000001.11:g.18636303C>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala173Thr	rs1328727883	missense variant	-	NC_000001.11:g.18636302G>A	TOPMed
PAX7	P23759	p.Ala173Glu	rs776359965	missense variant	-	NC_000001.11:g.18636303C>A	NCI-TCGA Cosmic
PAX7	P23759	p.Ala173Val	rs776359965	missense variant	-	NC_000001.11:g.18636303C>T	NCI-TCGA,NCI-TCGA Cosmic
PAX7	P23759	p.Lys175Gln	rs765140824	missense variant	-	NC_000001.11:g.18636308A>C	ExAC,gnomAD
PAX7	P23759	p.Glu177Asp	rs1485365737	missense variant	-	NC_000001.11:g.18636316G>C	gnomAD
PAX7	P23759	p.Glu177Lys	rs1209376438	missense variant	-	NC_000001.11:g.18636314G>A	TOPMed
PAX7	P23759	p.Asp178Glu	rs750165429	missense variant	-	NC_000001.11:g.18636319C>A	ExAC,gnomAD
PAX7	P23759	p.Asp179Glu	rs372598486	missense variant	-	NC_000001.11:g.18636322C>A	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Asp179Asn	rs202222781	missense variant	-	NC_000001.11:g.18636320G>A	ExAC,gnomAD
PAX7	P23759	p.Gly180Ser	rs751661905	missense variant	-	NC_000001.11:g.18636323G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ser187Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18636345G>A	NCI-TCGA
PAX7	P23759	p.Ile188Ser	rs1172280724	missense variant	-	NC_000001.11:g.18636348T>G	gnomAD
PAX7	P23759	p.Leu192Val	rs1373148008	missense variant	-	NC_000001.11:g.18636359C>G	gnomAD
PAX7	P23759	p.Asp194Tyr	COSM1337277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18636365G>T	NCI-TCGA Cosmic
PAX7	P23759	p.Asp194Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18636365G>A	NCI-TCGA
PAX7	P23759	p.Arg198Trp	rs375284574	missense variant	-	NC_000001.11:g.18691759C>T	NCI-TCGA
PAX7	P23759	p.Arg198Leu	rs759283359	missense variant	-	NC_000001.11:g.18691760G>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg198Gln	rs759283359	missense variant	-	NC_000001.11:g.18691760G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg198Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18691760G>C	NCI-TCGA
PAX7	P23759	p.Arg198Trp	rs375284574	missense variant	-	NC_000001.11:g.18691759C>T	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Leu199Gln	rs1161403871	missense variant	-	NC_000001.11:g.18691763T>A	TOPMed
PAX7	P23759	p.Glu201Gly	rs201602654	missense variant	-	NC_000001.11:g.18691769A>G	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Glu201Lys	rs1170293876	missense variant	-	NC_000001.11:g.18691768G>A	TOPMed
PAX7	P23759	p.Glu201Lys	rs1170293876	missense variant	-	NC_000001.11:g.18691768G>A	NCI-TCGA
PAX7	P23759	p.Gly202Asp	rs1408305648	missense variant	-	NC_000001.11:g.18691772G>A	gnomAD
PAX7	P23759	p.Ser203Leu	rs757502773	missense variant	-	NC_000001.11:g.18691775C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ser203Trp	rs757502773	missense variant	-	NC_000001.11:g.18691775C>G	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Asp204Ala	rs1393453644	missense variant	-	NC_000001.11:g.18691778A>C	gnomAD
PAX7	P23759	p.Val205Ala	rs746440011	missense variant	-	NC_000001.11:g.18691781T>C	ExAC,gnomAD
PAX7	P23759	p.Glu206Asp	rs772687531	missense variant	-	NC_000001.11:g.18691785G>T	ExAC,gnomAD
PAX7	P23759	p.Ser207Leu	rs752360223	missense variant	-	NC_000001.11:g.18691787C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ser207Trp	rs752360223	missense variant	-	NC_000001.11:g.18691787C>G	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Glu208Lys	COSM5536507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691789G>A	NCI-TCGA Cosmic
PAX7	P23759	p.Pro209His	rs1280147513	missense variant	-	NC_000001.11:g.18691793C>A	gnomAD
PAX7	P23759	p.Pro209Thr	rs1371828008	missense variant	-	NC_000001.11:g.18691792C>A	TOPMed,gnomAD
PAX7	P23759	p.Leu211Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18691799T>C	NCI-TCGA
PAX7	P23759	p.Lys214Asn	rs1231675295	missense variant	-	NC_000001.11:g.18691809G>T	gnomAD
PAX7	P23759	p.Arg215His	rs200575057	missense variant	-	NC_000001.11:g.18691811G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg215Cys	rs762812558	missense variant	-	NC_000001.11:g.18691810C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Lys216Glu	rs774118694	missense variant	-	NC_000001.11:g.18691813A>G	ExAC,gnomAD
PAX7	P23759	p.Arg218Ter	COSM1337286	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.18691819C>T	NCI-TCGA Cosmic
PAX7	P23759	p.Arg218Gln	rs759517187	missense variant	-	NC_000001.11:g.18691820G>A	ExAC,gnomAD
PAX7	P23759	p.Arg219His	rs752849870	missense variant	-	NC_000001.11:g.18691823G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ser220Asn	rs760620403	missense variant	-	NC_000001.11:g.18691826G>A	ExAC,gnomAD
PAX7	P23759	p.Arg221Trp	rs1473016979	missense variant	-	NC_000001.11:g.18691828C>T	gnomAD
PAX7	P23759	p.Arg221Gln	rs1022812740	missense variant	-	NC_000001.11:g.18691829G>A	gnomAD
PAX7	P23759	p.Arg221Trp	rs1473016979	missense variant	-	NC_000001.11:g.18691828C>T	NCI-TCGA Cosmic
PAX7	P23759	p.Arg221Leu	rs1022812740	missense variant	-	NC_000001.11:g.18691829G>T	gnomAD
PAX7	P23759	p.Thr225Ser	rs1372477155	missense variant	-	NC_000001.11:g.18691840A>T	gnomAD
PAX7	P23759	p.Thr225Met	rs757493004	missense variant	-	NC_000001.11:g.18691841C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Thr225Ser	rs1372477155	missense variant	-	NC_000001.11:g.18691840A>T	NCI-TCGA
PAX7	P23759	p.Ala226Val	rs1287469522	missense variant	-	NC_000001.11:g.18691844C>T	NCI-TCGA
PAX7	P23759	p.Ala226Ser	rs759005968	missense variant	-	NC_000001.11:g.18691843G>T	ExAC,gnomAD
PAX7	P23759	p.Ala226Val	rs1287469522	missense variant	-	NC_000001.11:g.18691844C>T	gnomAD
PAX7	P23759	p.Glu227Lys	rs144928234	missense variant	-	NC_000001.11:g.18691846G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Leu229Met	COSM1473183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691852C>A	NCI-TCGA Cosmic
PAX7	P23759	p.Glu230Asp	rs1196872406	missense variant	-	NC_000001.11:g.18691857G>C	gnomAD
PAX7	P23759	p.Glu233Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18691864G>C	NCI-TCGA
PAX7	P23759	p.Lys234Arg	rs1483738753	missense variant	-	NC_000001.11:g.18691868A>G	gnomAD
PAX7	P23759	p.Ala235Thr	rs147079707	missense variant	-	NC_000001.11:g.18691870G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg238Lys	COSM3863900	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691880G>A	NCI-TCGA Cosmic
PAX7	P23759	p.Thr239Ala	rs770545876	missense variant	-	NC_000001.11:g.18691882A>G	ExAC,gnomAD
PAX7	P23759	p.Tyr241Ser	rs1189384539	missense variant	-	NC_000001.11:g.18691889A>C	gnomAD
PAX7	P23759	p.Asp243Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18691896C>A	NCI-TCGA
PAX7	P23759	p.Tyr245Cys	COSM4026241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691901A>G	NCI-TCGA Cosmic
PAX7	P23759	p.Thr246Ile	rs745619831	missense variant	-	NC_000001.11:g.18691904C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Thr246Ser	rs745619831	missense variant	-	NC_000001.11:g.18691904C>G	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg247His	rs373331822	missense variant	-	NC_000001.11:g.18691907G>A	ESP,ExAC,gnomAD
PAX7	P23759	p.Arg247Cys	rs772017159	missense variant	-	NC_000001.11:g.18691906C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg247Leu	COSM1146102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691907G>T	NCI-TCGA Cosmic
PAX7	P23759	p.Arg247His	rs373331822	missense variant	-	NC_000001.11:g.18691907G>A	NCI-TCGA
PAX7	P23759	p.Glu248Lys	rs776754356	missense variant	-	NC_000001.11:g.18691909G>A	ExAC,gnomAD
PAX7	P23759	p.Glu249Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.18691912G>T	NCI-TCGA
PAX7	P23759	p.Ala251Val	rs1316753243	missense variant	-	NC_000001.11:g.18691919C>T	gnomAD
PAX7	P23759	p.Ala251Thr	rs1397947057	missense variant	-	NC_000001.11:g.18691918G>A	gnomAD
PAX7	P23759	p.Arg253Lys	rs758779913	missense variant	-	NC_000001.11:g.18691925G>A	ExAC,gnomAD
PAX7	P23759	p.Glu258Lys	rs1278923306	missense variant	-	NC_000001.11:g.18691939G>A	gnomAD
PAX7	P23759	p.Ala259Val	COSM1583908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18691943C>T	NCI-TCGA Cosmic
PAX7	P23759	p.Ala259Ser	rs777197278	missense variant	-	NC_000001.11:g.18691942G>T	ExAC,gnomAD
PAX7	P23759	p.Arg260Cys	rs1446186865	missense variant	-	NC_000001.11:g.18691945C>T	gnomAD
PAX7	P23759	p.Arg260His	rs778485142	missense variant	-	NC_000001.11:g.18691946G>A	ExAC,gnomAD
PAX7	P23759	p.Gln262MetIleLysAlaPheGlnGluAsn	NCI-TCGA novel	insertion	-	NC_000001.11:g.18700652_18700653insATGATTAAAGCCTTTCAGGAAAAT	NCI-TCGA
PAX7	P23759	p.Val263Phe	rs753365796	missense variant	-	NC_000001.11:g.18700653G>T	ExAC,gnomAD
PAX7	P23759	p.Val263Ile	rs753365796	missense variant	-	NC_000001.11:g.18700653G>A	ExAC,gnomAD
PAX7	P23759	p.Phe265Leu	rs1461418218	missense variant	-	NC_000001.11:g.18700661C>G	gnomAD
PAX7	P23759	p.Asn267Lys	rs1294606018	missense variant	-	NC_000001.11:g.18700667C>A	gnomAD
PAX7	P23759	p.Arg268His	rs756695695	missense variant	-	NC_000001.11:g.18700669G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg268Cys	rs1357351947	missense variant	-	NC_000001.11:g.18700668C>T	gnomAD
PAX7	P23759	p.Arg269Pro	rs371475871	missense variant	-	NC_000001.11:g.18700672G>C	ESP,TOPMed,gnomAD
PAX7	P23759	p.Arg269Cys	rs1388040564	missense variant	-	NC_000001.11:g.18700671C>T	gnomAD
PAX7	P23759	p.Arg269Ser	COSM6123341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18700671C>A	NCI-TCGA Cosmic
PAX7	P23759	p.Arg269His	rs371475871	missense variant	-	NC_000001.11:g.18700672G>A	NCI-TCGA,NCI-TCGA Cosmic
PAX7	P23759	p.Arg269Cys	rs1388040564	missense variant	-	NC_000001.11:g.18700671C>T	NCI-TCGA
PAX7	P23759	p.Arg269His	rs371475871	missense variant	-	NC_000001.11:g.18700672G>A	ESP,TOPMed,gnomAD
PAX7	P23759	p.Ala270Thr	rs745583358	missense variant	-	NC_000001.11:g.18700674G>A	ExAC,gnomAD
PAX7	P23759	p.Ala270Thr	rs745583358	missense variant	-	NC_000001.11:g.18700674G>A	NCI-TCGA
PAX7	P23759	p.Arg271His	rs746781983	missense variant	-	NC_000001.11:g.18700678G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg271Cys	rs200642644	missense variant	-	NC_000001.11:g.18700677C>T	1000Genomes,ExAC,gnomAD
PAX7	P23759	p.Trp272Ser	rs1265994219	missense variant	-	NC_000001.11:g.18700681G>C	gnomAD
PAX7	P23759	p.Arg273His	rs915768373	missense variant	-	NC_000001.11:g.18700684G>A	TOPMed,gnomAD
PAX7	P23759	p.Arg273Cys	rs768503948	missense variant	-	NC_000001.11:g.18700683C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg273Cys	rs768503948	missense variant	-	NC_000001.11:g.18700683C>T	NCI-TCGA,NCI-TCGA Cosmic
PAX7	P23759	p.Lys274Gln	rs1458664904	missense variant	-	NC_000001.11:g.18700686A>C	gnomAD
PAX7	P23759	p.Gln275Pro	rs948768845	missense variant	-	NC_000001.11:g.18700690A>C	TOPMed,gnomAD
PAX7	P23759	p.Gly277Arg	rs748243081	missense variant	-	NC_000001.11:g.18700695G>A	ExAC,gnomAD
PAX7	P23759	p.Ala278Gly	rs1469378424	missense variant	-	NC_000001.11:g.18700699C>G	TOPMed
PAX7	P23759	p.Gln280His	rs773414245	missense variant	-	NC_000001.11:g.18700706G>C	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala282Val	rs763313664	missense variant	-	NC_000001.11:g.18700711C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala283Glu	rs774609612	missense variant	-	NC_000001.11:g.18700714C>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala283Val	rs774609612	missense variant	-	NC_000001.11:g.18700714C>T	NCI-TCGA,NCI-TCGA Cosmic
PAX7	P23759	p.Ala283Val	rs774609612	missense variant	-	NC_000001.11:g.18700714C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Leu287Phe	rs1227538555	missense variant	-	NC_000001.11:g.18700725C>T	gnomAD
PAX7	P23759	p.Leu287Pro	rs143423261	missense variant	-	NC_000001.11:g.18700726T>C	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Leu288Met	COSM1583906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18700728C>A	NCI-TCGA Cosmic
PAX7	P23759	p.Leu288Pro	rs761162863	missense variant	-	NC_000001.11:g.18700729T>C	ExAC,gnomAD
PAX7	P23759	p.Gly290Glu	rs558714916	missense variant	-	NC_000001.11:g.18700735G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro293Leu	rs1207317607	missense variant	-	NC_000001.11:g.18700744C>T	gnomAD
PAX7	P23759	p.Gly296Ser	rs370742910	missense variant	-	NC_000001.11:g.18700752G>A	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly296Ser	rs370742910	missense variant	-	NC_000001.11:g.18700752G>A	NCI-TCGA
PAX7	P23759	p.Met297Ile	rs1416391852	missense variant	-	NC_000001.11:g.18700757G>A	gnomAD
PAX7	P23759	p.Thr299Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18700762C>T	NCI-TCGA
PAX7	P23759	p.Pro301Ser	rs754735874	missense variant	-	NC_000001.11:g.18700767C>T	ExAC,gnomAD
PAX7	P23759	p.Pro302Ser	rs1028436131	missense variant	-	NC_000001.11:g.18700770C>T	TOPMed,gnomAD
PAX7	P23759	p.Tyr303ThrPheSerTerUnkUnk	COSM1337288	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.18700767C>-	NCI-TCGA Cosmic
PAX7	P23759	p.Tyr303LeuPheSerTerUnkUnk	rs754858754	frameshift	-	NC_000001.11:g.18700766_18700767insC	NCI-TCGA
PAX7	P23759	p.Gln304Leu	rs781131736	missense variant	-	NC_000001.11:g.18700777A>T	ExAC,gnomAD
PAX7	P23759	p.Pro306Leu	rs748155378	missense variant	-	NC_000001.11:g.18700783C>T	ExAC,gnomAD
PAX7	P23759	p.Pro306Gln	rs748155378	missense variant	-	NC_000001.11:g.18700783C>A	ExAC,gnomAD
PAX7	P23759	p.Asp307Gly	rs544225459	missense variant	-	NC_000001.11:g.18700786A>G	gnomAD
PAX7	P23759	p.Ser308Pro	rs1303285145	missense variant	-	NC_000001.11:g.18700788T>C	gnomAD
PAX7	P23759	p.Thr309Asn	rs778037085	missense variant	-	NC_000001.11:g.18700792C>A	ExAC,gnomAD
PAX7	P23759	p.Thr309Ser	rs778037085	missense variant	-	NC_000001.11:g.18700792C>G	ExAC,gnomAD
PAX7	P23759	p.Pro311Ser	rs889987252	missense variant	-	NC_000001.11:g.18700797C>T	TOPMed
PAX7	P23759	p.Thr312Ser	rs549133578	missense variant	-	NC_000001.11:g.18700801C>G	1000Genomes
PAX7	P23759	p.Thr312Ala	rs771079752	missense variant	-	NC_000001.11:g.18700800A>G	ExAC
PAX7	P23759	p.Ile315Val	rs1342731808	missense variant	-	NC_000001.11:g.18700809A>G	TOPMed,gnomAD
PAX7	P23759	p.Asp318Gly	rs754575370	missense variant	-	NC_000001.11:g.18703094A>G	ExAC,gnomAD
PAX7	P23759	p.Asp318Glu	rs781183179	missense variant	-	NC_000001.11:g.18703095T>G	ExAC,gnomAD
PAX7	P23759	p.Gly319Arg	COSM3480481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18703096G>A	NCI-TCGA Cosmic
PAX7	P23759	p.Thr322Ser	rs752507470	missense variant	-	NC_000001.11:g.18703105A>T	ExAC,gnomAD
PAX7	P23759	p.Val323Leu	rs373451557	missense variant	-	NC_000001.11:g.18703108G>C	ESP,TOPMed,gnomAD
PAX7	P23759	p.Arg325Trp	rs756150156	missense variant	-	NC_000001.11:g.18703114C>T	ExAC,gnomAD
PAX7	P23759	p.Pro326Arg	COSM6123339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18703118C>G	NCI-TCGA Cosmic
PAX7	P23759	p.Pro328Leu	rs145847662	missense variant	-	NC_000001.11:g.18703124C>T	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro331Leu	rs377610214	missense variant	-	NC_000001.11:g.18703133C>T	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Thr333Pro	rs1458789113	missense variant	-	NC_000001.11:g.18703138A>C	gnomAD
PAX7	P23759	p.Thr333Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18703139C>T	NCI-TCGA
PAX7	P23759	p.His335Gln	rs1038119035	missense variant	-	NC_000001.11:g.18703146C>G	TOPMed
PAX7	P23759	p.His335Arg	rs757290925	missense variant	-	NC_000001.11:g.18703145A>G	ExAC
PAX7	P23759	p.Gln336Pro	rs778849585	missense variant	-	NC_000001.11:g.18703148A>C	ExAC,gnomAD
PAX7	P23759	p.Gly337Ser	rs746156743	missense variant	-	NC_000001.11:g.18703150G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly338Val	rs1371525143	missense variant	-	NC_000001.11:g.18703154G>T	gnomAD
PAX7	P23759	p.Gly338Arg	rs772256591	missense variant	-	NC_000001.11:g.18703153G>A	ExAC,gnomAD
PAX7	P23759	p.Ala340Val	rs1441152710	missense variant	-	NC_000001.11:g.18703160C>T	TOPMed
PAX7	P23759	p.Ala341Thr	rs371037800	missense variant	-	NC_000001.11:g.18703162G>A	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala342Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18703166C>T	NCI-TCGA
PAX7	P23759	p.Ala343Thr	rs1380969943	missense variant	-	NC_000001.11:g.18703168G>A	TOPMed
PAX7	P23759	p.Ala345Val	rs1289835872	missense variant	-	NC_000001.11:g.18703175C>T	gnomAD
PAX7	P23759	p.Asp347Asn	rs769169265	missense variant	-	NC_000001.11:g.18703180G>A	ExAC,gnomAD
PAX7	P23759	p.Asp347Ala	rs1247930967	missense variant	-	NC_000001.11:g.18703181A>C	gnomAD
PAX7	P23759	p.Asp347His	rs769169265	missense variant	-	NC_000001.11:g.18703180G>C	ExAC,gnomAD
PAX7	P23759	p.Tyr352Cys	rs1412500269	missense variant	-	NC_000001.11:g.18703196A>G	gnomAD
PAX7	P23759	p.Tyr352Asn	rs201998357	missense variant	-	NC_000001.11:g.18703195T>A	1000Genomes
PAX7	P23759	p.Gly353Arg	rs1288538567	missense variant	-	NC_000001.11:g.18703198G>A	TOPMed
PAX7	P23759	p.Ala354Asp	rs1473463055	missense variant	-	NC_000001.11:g.18703202C>A	gnomAD
PAX7	P23759	p.Arg355Ser	rs765973742	missense variant	-	NC_000001.11:g.18703204C>A	ExAC,gnomAD
PAX7	P23759	p.Arg355His	rs866230294	missense variant	-	NC_000001.11:g.18703205G>A	TOPMed,gnomAD
PAX7	P23759	p.Arg355Cys	rs765973742	missense variant	-	NC_000001.11:g.18703204C>T	ExAC,gnomAD
PAX7	P23759	p.Arg355His	rs866230294	missense variant	-	NC_000001.11:g.18703205G>A	NCI-TCGA Cosmic
PAX7	P23759	p.Ser359Phe	rs1325690512	missense variant	-	NC_000001.11:g.18703217C>T	gnomAD
PAX7	P23759	p.Ser362Phe	rs759271136	missense variant	-	NC_000001.11:g.18703226C>T	ExAC
PAX7	P23759	p.Met366Leu	rs1231856165	missense variant	-	NC_000001.11:g.18703237A>C	gnomAD
PAX7	P23759	p.Pro368Ala	rs1283907977	missense variant	-	NC_000001.11:g.18703243C>G	gnomAD
PAX7	P23759	p.Ala369Val	rs1013770872	missense variant	-	NC_000001.11:g.18703247C>T	NCI-TCGA
PAX7	P23759	p.Ala369Val	rs1013770872	missense variant	-	NC_000001.11:g.18703247C>T	gnomAD
PAX7	P23759	p.Ala369Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18703247C>A	NCI-TCGA
PAX7	P23759	p.Ala370Glu	rs199662942	missense variant	-	NC_000001.11:g.18703250C>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala370Val	rs199662942	missense variant	-	NC_000001.11:g.18703250C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro371Leu	rs1203749207	missense variant	-	NC_000001.11:g.18703253C>T	gnomAD
PAX7	P23759	p.Ser372Ala	rs1483793749	missense variant	-	NC_000001.11:g.18703255T>G	TOPMed,gnomAD
PAX7	P23759	p.His374Arg	rs370927263	missense variant	-	NC_000001.11:g.18703262A>G	ESP,ExAC,gnomAD
PAX7	P23759	p.His374Pro	rs370927263	missense variant	-	NC_000001.11:g.18703262A>C	ESP,ExAC,gnomAD
PAX7	P23759	p.Met375Thr	rs1026433184	missense variant	-	NC_000001.11:g.18703265T>C	TOPMed
PAX7	P23759	p.Met375Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18703264A>C	NCI-TCGA
PAX7	P23759	p.Asn376Lys	rs890664448	missense variant	-	NC_000001.11:g.18703269C>G	TOPMed,gnomAD
PAX7	P23759	p.Pro377Leu	rs754043353	missense variant	-	NC_000001.11:g.18703271C>T	ExAC,gnomAD
PAX7	P23759	p.Pro377Ala	rs1424439940	missense variant	-	NC_000001.11:g.18703270C>G	TOPMed
PAX7	P23759	p.Val378Ile	rs1388197284	missense variant	-	NC_000001.11:g.18703273G>A	gnomAD
PAX7	P23759	p.Asn380Ser	rs1372653687	missense variant	-	NC_000001.11:g.18703280A>G	gnomAD
PAX7	P23759	p.Asn380Lys	rs747382886	missense variant	-	NC_000001.11:g.18703281C>A	ExAC,gnomAD
PAX7	P23759	p.Gly381Cys	COSM4026253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18703282G>T	NCI-TCGA Cosmic
PAX7	P23759	p.Pro384Ser	COSM3480483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18703291C>T	NCI-TCGA Cosmic
PAX7	P23759	p.Gln385His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18703296G>T	NCI-TCGA
PAX7	P23759	p.Gln385Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18703294C>A	NCI-TCGA
PAX7	P23759	p.Val386Leu	rs775122989	missense variant	-	NC_000001.11:g.18735632G>C	ExAC,gnomAD
PAX7	P23759	p.Met387Thr	rs760450345	missense variant	-	NC_000001.11:g.18735636T>C	ExAC
PAX7	P23759	p.Ser388Asn	rs147809994	missense variant	-	NC_000001.11:g.18735639G>A	ESP,ExAC,gnomAD
PAX7	P23759	p.Asn392Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18735652C>A	NCI-TCGA
PAX7	P23759	p.Pro393Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18735653C>A	NCI-TCGA
PAX7	P23759	p.Ala395Val	rs761460050	missense variant	-	NC_000001.11:g.18735660C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala395Val	rs761460050	missense variant	-	NC_000001.11:g.18735660C>T	NCI-TCGA,NCI-TCGA Cosmic
PAX7	P23759	p.Pro398Leu	rs149436157	missense variant	-	NC_000001.11:g.18735669C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro398Ser	rs1345190091	missense variant	-	NC_000001.11:g.18735668C>T	gnomAD
PAX7	P23759	p.Pro398Leu	rs149436157	missense variant	-	NC_000001.11:g.18735669C>T	NCI-TCGA
PAX7	P23759	p.Gln399Ter	rs755225967	stop gained	-	NC_000001.11:g.18735671C>T	ExAC,gnomAD
PAX7	P23759	p.Gln399Glu	rs755225967	missense variant	-	NC_000001.11:g.18735671C>G	ExAC,gnomAD
PAX7	P23759	p.Pro400Ser	rs781220497	missense variant	-	NC_000001.11:g.18735674C>T	ExAC,gnomAD
PAX7	P23759	p.Ser405Tyr	rs1331383105	missense variant	-	NC_000001.11:g.18735690C>A	TOPMed,gnomAD
PAX7	P23759	p.Ser405Tyr	rs1331383105	missense variant	-	NC_000001.11:g.18735690C>A	NCI-TCGA
PAX7	P23759	p.Ser405Cys	rs1331383105	missense variant	-	NC_000001.11:g.18735690C>G	TOPMed,gnomAD
PAX7	P23759	p.Ile406Val	rs148081584	missense variant	-	NC_000001.11:g.18735692A>G	ESP,ExAC,gnomAD
PAX7	P23759	p.Pro408Leu	rs564200011	missense variant	-	NC_000001.11:g.18735699C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.His410Arg	rs1269976989	missense variant	-	NC_000001.11:g.18735705A>G	gnomAD
PAX7	P23759	p.Gly412Asp	rs1268130256	missense variant	-	NC_000001.11:g.18735711G>A	TOPMed,gnomAD
PAX7	P23759	p.Gly412Ser	rs144861509	missense variant	-	NC_000001.11:g.18735710G>A	NCI-TCGA
PAX7	P23759	p.Gly412Ser	rs144861509	missense variant	-	NC_000001.11:g.18735710G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Leu413Pro	rs746475007	missense variant	-	NC_000001.11:g.18735714T>C	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Asp414Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18735716G>A	NCI-TCGA
PAX7	P23759	p.Ser415Leu	rs768370753	missense variant	-	NC_000001.11:g.18735720C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala416Thr	rs1473139973	missense variant	-	NC_000001.11:g.18735722G>A	gnomAD
PAX7	P23759	p.Ala416Asp	rs1161742615	missense variant	-	NC_000001.11:g.18735723C>A	gnomAD
PAX7	P23759	p.Thr417Pro	rs1415391119	missense variant	-	NC_000001.11:g.18735725A>C	TOPMed
PAX7	P23759	p.Thr417Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18735725A>G	NCI-TCGA
PAX7	P23759	p.Ala421Thr	rs1367246502	missense variant	-	NC_000001.11:g.18735737G>A	gnomAD
PAX7	P23759	p.Ser422Arg	rs761526778	missense variant	-	NC_000001.11:g.18735740A>C	ExAC,gnomAD
PAX7	P23759	p.Arg426Trp	rs769536224	missense variant	-	NC_000001.11:g.18735752C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg426Gln	rs371958619	missense variant	-	NC_000001.11:g.18735753G>A	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg426Gln	rs371958619	missense variant	-	NC_000001.11:g.18735753G>A	NCI-TCGA,NCI-TCGA Cosmic
PAX7	P23759	p.Arg426Gly	rs769536224	missense variant	-	NC_000001.11:g.18735752C>G	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg426Trp	rs769536224	missense variant	-	NC_000001.11:g.18735752C>T	NCI-TCGA
PAX7	P23759	p.Arg426Pro	rs371958619	missense variant	-	NC_000001.11:g.18735753G>C	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ala427Val	rs1406446474	missense variant	-	NC_000001.11:g.18735756C>T	gnomAD
PAX7	P23759	p.Asp428Gly	rs759475682	missense variant	-	NC_000001.11:g.18735759A>G	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Asp428Asn	rs568673882	missense variant	-	NC_000001.11:g.18735758G>A	NCI-TCGA
PAX7	P23759	p.Asp428Asn	rs568673882	missense variant	-	NC_000001.11:g.18735758G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ser429Phe	COSM3480493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18735762C>T	NCI-TCGA Cosmic
PAX7	P23759	p.Ile430Phe	rs1319916446	missense variant	-	NC_000001.11:g.18735764A>T	TOPMed,gnomAD
PAX7	P23759	p.Ile430Val	rs1319916446	missense variant	-	NC_000001.11:g.18735764A>G	TOPMed,gnomAD
PAX7	P23759	p.Pro432Ser	rs1243937076	missense variant	-	NC_000001.11:g.18735770C>T	gnomAD
PAX7	P23759	p.Gly433Ala	rs752928933	missense variant	-	NC_000001.11:g.18735774G>C	ExAC,gnomAD
PAX7	P23759	p.Asp434Asn	rs1489518352	missense variant	-	NC_000001.11:g.18735776G>A	gnomAD
PAX7	P23759	p.Asp434Glu	rs146763357	missense variant	-	NC_000001.11:g.18735778C>G	1000Genomes,ExAC,gnomAD
PAX7	P23759	p.Asp434Asn	rs1489518352	missense variant	-	NC_000001.11:g.18735776G>A	NCI-TCGA
PAX7	P23759	p.Ser435Asn	rs1420584772	missense variant	-	NC_000001.11:g.18735780G>A	gnomAD
PAX7	P23759	p.Gln440Pro	rs754222020	missense variant	-	NC_000001.11:g.18735795A>C	ExAC,gnomAD
PAX7	P23759	p.Cys443Ser	rs757868576	missense variant	-	NC_000001.11:g.18735803T>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro444Ser	rs779507536	missense variant	-	NC_000001.11:g.18735806C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro444Leu	rs746525941	missense variant	-	NC_000001.11:g.18735807C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro445Thr	rs1166083600	missense variant	-	NC_000001.11:g.18735809C>A	gnomAD
PAX7	P23759	p.Tyr447Cys	rs1043918235	missense variant	-	NC_000001.11:g.18735816A>G	TOPMed
PAX7	P23759	p.Tyr447Ter	rs1370657900	stop gained	-	NC_000001.11:g.18735817C>G	gnomAD
PAX7	P23759	p.Ser448Arg	rs780744300	missense variant	-	NC_000001.11:g.18735820C>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Thr449Ser	rs1200408774	missense variant	-	NC_000001.11:g.18735821A>T	TOPMed
PAX7	P23759	p.Gly451Cys	rs548041494	missense variant	-	NC_000001.11:g.18735827G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly451Arg	rs548041494	missense variant	-	NC_000001.11:g.18735827G>C	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly451Ser	rs548041494	missense variant	-	NC_000001.11:g.18735827G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Tyr452Cys	rs1299738302	missense variant	-	NC_000001.11:g.18735831A>G	gnomAD
PAX7	P23759	p.Val454Met	rs201893551	missense variant	-	NC_000001.11:g.18735836G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Val457Met	rs775613248	missense variant	-	NC_000001.11:g.18735845G>A	ExAC,gnomAD
PAX7	P23759	p.Ala458Val	rs1273989275	missense variant	-	NC_000001.11:g.18735849C>T	TOPMed,gnomAD
PAX7	P23759	p.Gly459Ser	rs145120435	missense variant	-	NC_000001.11:g.18735851G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly459Asp	COSM5844857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18735852G>A	NCI-TCGA Cosmic
PAX7	P23759	p.Gly459Ala	COSM1146105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18735852G>C	NCI-TCGA Cosmic
PAX7	P23759	p.Gly459Cys	COSM1146103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18735851G>T	NCI-TCGA Cosmic
PAX7	P23759	p.Tyr460Cys	rs201148507	missense variant	-	NC_000001.11:g.18735855A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly463Ser	rs140323790	missense variant	-	NC_000001.11:g.18735863G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly463Cys	rs140323790	missense variant	-	NC_000001.11:g.18735863G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly463Asp	rs758921663	missense variant	-	NC_000001.11:g.18735864G>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly463Val	rs758921663	missense variant	-	NC_000001.11:g.18735864G>T	NCI-TCGA
PAX7	P23759	p.Gly463Ser	rs140323790	missense variant	-	NC_000001.11:g.18735863G>A	NCI-TCGA,NCI-TCGA Cosmic
PAX7	P23759	p.Gly463Cys	rs140323790	missense variant	-	NC_000001.11:g.18735863G>T	NCI-TCGA Cosmic
PAX7	P23759	p.Gly463Val	rs758921663	missense variant	-	NC_000001.11:g.18735864G>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gln464His	rs144242911	missense variant	-	NC_000001.11:g.18735868G>C	ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gln464His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18735868G>T	NCI-TCGA
PAX7	P23759	p.Tyr465Ter	rs143552197	stop gained	-	NC_000001.11:g.18735871C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly466Ser	rs574538588	missense variant	-	NC_000001.11:g.18735872G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gly466Arg	rs574538588	missense variant	-	NC_000001.11:g.18735872G>C	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Gln467His	rs774118673	missense variant	-	NC_000001.11:g.18735877G>C	ExAC,gnomAD
PAX7	P23759	p.Ala469Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18744817C>T	NCI-TCGA
PAX7	P23759	p.Val470Ile	rs750196151	missense variant	-	NC_000001.11:g.18744819G>A	ExAC,gnomAD
PAX7	P23759	p.Asp471Asn	rs1337877648	missense variant	-	NC_000001.11:g.18744822G>A	gnomAD
PAX7	P23759	p.Tyr472His	rs1257497335	missense variant	-	NC_000001.11:g.18744825T>C	TOPMed,gnomAD
PAX7	P23759	p.Tyr472Asn	rs1257497335	missense variant	-	NC_000001.11:g.18744825T>A	TOPMed,gnomAD
PAX7	P23759	p.Asn476His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.18744837A>C	NCI-TCGA
PAX7	P23759	p.Ser478Arg	rs1357593865	missense variant	-	NC_000001.11:g.18744845C>A	TOPMed,gnomAD
PAX7	P23759	p.Gln482Ter	rs1339718930	stop gained	-	NC_000001.11:g.18744855C>T	gnomAD
PAX7	P23759	p.Arg483Cys	rs746992366	missense variant	-	NC_000001.11:g.18744858C>T	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg483His	rs189558094	missense variant	-	NC_000001.11:g.18744859G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg484Pro	rs57227966	missense variant	-	NC_000001.11:g.18744862G>C	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Arg484Cys	rs1185057613	missense variant	-	NC_000001.11:g.18744861C>T	gnomAD
PAX7	P23759	p.Arg484His	rs57227966	missense variant	-	NC_000001.11:g.18744862G>A	NCI-TCGA,NCI-TCGA Cosmic
PAX7	P23759	p.Arg484Cys	rs1185057613	missense variant	-	NC_000001.11:g.18744861C>T	NCI-TCGA Cosmic
PAX7	P23759	p.Arg484His	rs57227966	missense variant	-	NC_000001.11:g.18744862G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Leu487Phe	rs927869403	missense variant	-	NC_000001.11:g.18744870C>T	TOPMed,gnomAD
PAX7	P23759	p.Leu487Val	rs927869403	missense variant	-	NC_000001.11:g.18744870C>G	TOPMed,gnomAD
PAX7	P23759	p.Leu487Phe	rs927869403	missense variant	-	NC_000001.11:g.18744870C>T	NCI-TCGA
PAX7	P23759	p.Gly488Arg	rs577652552	missense variant	-	NC_000001.11:g.18744873G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Glu489Val	rs1393221176	missense variant	-	NC_000001.11:g.18744877A>T	TOPMed
PAX7	P23759	p.Glu489Gln	rs749464008	missense variant	-	NC_000001.11:g.18744876G>C	ExAC,gnomAD
PAX7	P23759	p.His490Pro	rs1308809622	missense variant	-	NC_000001.11:g.18744880A>C	TOPMed
PAX7	P23759	p.His490Asn	rs774554234	missense variant	-	NC_000001.11:g.18744879C>A	ExAC,TOPMed,gnomAD
PAX7	P23759	p.Ser491Cys	rs1341654814	missense variant	-	NC_000001.11:g.18744883C>G	TOPMed,gnomAD
PAX7	P23759	p.Ser491Phe	rs1341654814	missense variant	-	NC_000001.11:g.18744883C>T	TOPMed,gnomAD
PAX7	P23759	p.Ala492Val	rs1055044007	missense variant	-	NC_000001.11:g.18744886C>T	TOPMed,gnomAD
PAX7	P23759	p.Ala492Asp	rs1055044007	missense variant	-	NC_000001.11:g.18744886C>A	TOPMed,gnomAD
PAX7	P23759	p.Val493Ala	rs760071292	missense variant	-	NC_000001.11:g.18744889T>C	ExAC
PAX7	P23759	p.Val493Met	rs1316588625	missense variant	-	NC_000001.11:g.18744888G>A	TOPMed,gnomAD
PAX7	P23759	p.Gly495Ala	rs1270414541	missense variant	-	NC_000001.11:g.18744895G>C	gnomAD
PAX7	P23759	p.Leu496Phe	rs556804253	missense variant	-	NC_000001.11:g.18744897C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAX7	P23759	p.Pro498Thr	rs988466486	missense variant	-	NC_000001.11:g.18744903C>A	gnomAD
PAX7	P23759	p.Val499Leu	rs1205456293	missense variant	-	NC_000001.11:g.18744906G>T	TOPMed,gnomAD
PAX7	P23759	p.Val499Met	rs1205456293	missense variant	-	NC_000001.11:g.18744906G>A	TOPMed,gnomAD
PAX7	P23759	p.Gly502Val	rs1246057824	missense variant	-	NC_000001.11:g.18744916G>T	gnomAD
PAX7	P23759	p.Gln503Glu	rs1448967432	missense variant	-	NC_000001.11:g.18744918C>G	gnomAD
PAX7	P23759	p.Gln503His	rs1193911515	missense variant	-	NC_000001.11:g.18744920G>C	TOPMed,gnomAD
PAX7	P23759	p.Ala504Ser	rs1375020817	missense variant	-	NC_000001.11:g.18744921G>T	TOPMed,gnomAD
PAX7	P23759	p.Tyr505Ter	rs1407261837	stop gained	-	NC_000001.11:g.18744926C>G	TOPMed,gnomAD
PAX7	P23759	p.Tyr505Asp	COSM4931235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.18744924T>G	NCI-TCGA Cosmic
PAX7	P23759	p.Tyr505Cys	rs750150375	missense variant	-	NC_000001.11:g.18744925A>G	ExAC,gnomAD
PAX7	P23759	p.Tyr505His	rs1477156627	missense variant	-	NC_000001.11:g.18744924T>C	gnomAD
PAX7	P23759	p.Ter506Trp	rs757967117	stop lost	-	NC_000001.11:g.18744928A>G	ExAC,gnomAD
PAX3	P23760	p.Ala5Pro	rs1293119743	missense variant	-	NC_000002.12:g.222298603C>G	gnomAD
PAX3	P23760	p.Ala5Gly	rs1278926101	missense variant	-	NC_000002.12:g.222298602G>C	gnomAD
PAX3	P23760	p.Gly6Asp	rs909763037	missense variant	-	NC_000002.12:g.222298599C>T	TOPMed,gnomAD
PAX3	P23760	p.Gly6Arg	rs1414840887	missense variant	-	NC_000002.12:g.222298600C>G	gnomAD
PAX3	P23760	p.Gly6Ala	rs909763037	missense variant	-	NC_000002.12:g.222298599C>G	TOPMed,gnomAD
PAX3	P23760	p.Ala7Ser	rs778065633	missense variant	-	NC_000002.12:g.222298597C>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Val8Leu	rs758491787	missense variant	-	NC_000002.12:g.222298594C>G	ExAC,gnomAD
PAX3	P23760	p.Val8Leu	COSM4922862	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222298594C>A	NCI-TCGA Cosmic
PAX3	P23760	p.Pro9Leu	rs542662595	missense variant	-	NC_000002.12:g.222298590G>A	1000Genomes,gnomAD
PAX3	P23760	p.Met11Thr	rs1407858751	missense variant	-	NC_000002.12:g.222298584A>G	TOPMed,gnomAD
PAX3	P23760	p.Met11Lys	rs1407858751	missense variant	-	NC_000002.12:g.222298584A>T	TOPMed,gnomAD
PAX3	P23760	p.Met12Ile	rs753770320	missense variant	-	NC_000002.12:g.222298580C>T	ExAC,gnomAD
PAX3	P23760	p.Pro14Ter	RCV000657511	frameshift	-	NC_000002.12:g.222298578del	ClinVar
PAX3	P23760	p.Gly15Ser	rs755894806	missense variant	-	NC_000002.12:g.222298573C>T	ExAC,gnomAD
PAX3	P23760	p.Gly15Val	rs1187320867	missense variant	-	NC_000002.12:g.222298572C>A	gnomAD
PAX3	P23760	p.Pro16Leu	rs886055676	missense variant	-	NC_000002.12:g.222298569G>A	-
PAX3	P23760	p.Pro16Ser	rs767173518	missense variant	-	NC_000002.12:g.222298570G>A	ExAC,gnomAD
PAX3	P23760	p.Pro16Leu	RCV000292474	missense variant	Waardenburg syndrome	NC_000002.12:g.222298569G>A	ClinVar
PAX3	P23760	p.Pro16Leu	RCV000386781	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222298569G>A	ClinVar
PAX3	P23760	p.Gly17Glu	rs1232210323	missense variant	-	NC_000002.12:g.222298566C>T	TOPMed
PAX3	P23760	p.Asn19Ser	rs1305782395	missense variant	-	NC_000002.12:g.222298560T>C	TOPMed
PAX3	P23760	p.Pro21Leu	rs1219628140	missense variant	-	NC_000002.12:g.222298554G>A	TOPMed,gnomAD
PAX3	P23760	p.Pro21Ser	rs762491076	missense variant	-	NC_000002.12:g.222298555G>A	ExAC,gnomAD
PAX3	P23760	p.Arg22Cys	rs1026986168	missense variant	-	NC_000002.12:g.222298552G>A	gnomAD
PAX3	P23760	p.Arg22Ser	rs1026986168	missense variant	-	NC_000002.12:g.222298552G>T	gnomAD
PAX3	P23760	p.Arg22Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222298551C>A	NCI-TCGA
PAX3	P23760	p.Gly24Arg	rs866429341	missense variant	-	NC_000002.12:g.222298546C>T	gnomAD
PAX3	P23760	p.Gly24Val	rs200928747	missense variant	-	NC_000002.12:g.222298545C>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly24Trp	rs866429341	missense variant	-	NC_000002.12:g.222298546C>A	gnomAD
PAX3	P23760	p.Pro26Leu	rs1259174817	missense variant	-	NC_000002.12:g.222298539G>A	TOPMed
PAX3	P23760	p.Glu28Lys	rs984035860	missense variant	-	NC_000002.12:g.222298534C>T	TOPMed
PAX3	P23760	p.Ser30Phe	rs1478008842	missense variant	-	NC_000002.12:g.222297210G>A	gnomAD
PAX3	P23760	p.Thr31Ser	rs762389938	missense variant	-	NC_000002.12:g.222297207G>C	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Thr31Ala	rs763759876	missense variant	-	NC_000002.12:g.222297208T>C	ExAC,gnomAD
PAX3	P23760	p.Pro32Ala	rs752191611	missense variant	-	NC_000002.12:g.222297205G>C	ExAC,gnomAD
PAX3	P23760	p.Pro32Ser	rs752191611	missense variant	-	NC_000002.12:g.222297205G>A	ExAC,gnomAD
PAX3	P23760	p.Pro32Leu	rs1236927078	missense variant	-	NC_000002.12:g.222297204G>A	gnomAD
PAX3	P23760	p.Gly34Cys	rs777273543	missense variant	-	NC_000002.12:g.222297199C>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly34Arg	rs777273543	missense variant	-	NC_000002.12:g.222297199C>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Arg37His	COSM1405795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297189C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Val38Ile	COSM5471448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297187C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Gln40Ter	rs1461573611	stop gained	-	NC_000002.12:g.222297181G>A	gnomAD
PAX3	P23760	p.Leu41Arg	rs1175819640	missense variant	-	NC_000002.12:g.222297177A>C	gnomAD
PAX3	P23760	p.Gly42Cys	rs773327091	missense variant	-	NC_000002.12:g.222297175C>A	ExAC
PAX3	P23760	p.Gly42Arg	RCV000626392	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297175C>G	ClinVar
PAX3	P23760	p.Gly42Arg	rs773327091	missense variant	-	NC_000002.12:g.222297175C>G	ExAC
PAX3	P23760	p.Gly42Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297175C>T	NCI-TCGA
PAX3	P23760	p.Val44Ala	COSM3909683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297168A>G	NCI-TCGA Cosmic
PAX3	P23760	p.Phe45Leu	VAR_003790	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Ile46Val	rs1342248849	missense variant	-	NC_000002.12:g.222297163T>C	TOPMed
PAX3	P23760	p.Ile46Ter	RCV000660199	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297163dup	ClinVar
PAX3	P23760	p.Ile46Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297162A>G	NCI-TCGA
PAX3	P23760	p.Asn47His	rs104893653	missense variant	-	NC_000002.12:g.222297160T>G	-
PAX3	P23760	p.Asn47His	rs104893653	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297160T>G	UniProt,dbSNP
PAX3	P23760	p.Asn47His	VAR_003791	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297160T>G	UniProt
PAX3	P23760	p.Asn47His	RCV000004435	missense variant	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222297160T>G	ClinVar
PAX3	P23760	p.Asn47Lys	rs104893652	missense variant	-	NC_000002.12:g.222297158G>C	-
PAX3	P23760	p.Asn47Lys	rs104893652	missense variant	Craniofacial-deafness-hand syndrome (CDHS)	NC_000002.12:g.222297158G>C	UniProt,dbSNP
PAX3	P23760	p.Asn47Lys	VAR_003792	missense variant	Craniofacial-deafness-hand syndrome (CDHS)	NC_000002.12:g.222297158G>C	UniProt
PAX3	P23760	p.Asn47Lys	RCV000004434	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222297158G>C	ClinVar
PAX3	P23760	p.Asn47Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297158G>T	NCI-TCGA
PAX3	P23760	p.Gly48Ser	rs1419548558	missense variant	-	NC_000002.12:g.222297157C>T	gnomAD
PAX3	P23760	p.Gly48Cys	rs1419548558	missense variant	-	NC_000002.12:g.222297157C>A	gnomAD
PAX3	P23760	p.Gly48Arg	RCV000626396	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297157C>G	ClinVar
PAX3	P23760	p.Gly48Cys	RCV000626390	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297157C>A	ClinVar
PAX3	P23760	p.Gly48Arg	rs1419548558	missense variant	-	NC_000002.12:g.222297157C>G	gnomAD
PAX3	P23760	p.Arg49Gly	rs1174935987	missense variant	-	NC_000002.12:g.222297154T>C	gnomAD
PAX3	P23760	p.Arg49SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.222297152_222297153insGG	NCI-TCGA
PAX3	P23760	p.Pro50Leu	rs104893650	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297150G>A	-
PAX3	P23760	p.Pro50Leu	rs104893650	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297150G>A	UniProt,dbSNP
PAX3	P23760	p.Pro50Leu	VAR_003793	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297150G>A	UniProt
PAX3	P23760	p.Pro50Ala	rs1480053384	missense variant	-	NC_000002.12:g.222297151G>C	gnomAD
PAX3	P23760	p.Pro50Leu	RCV000004426	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297150G>A	ClinVar
PAX3	P23760	p.Arg56Cys	rs1279989885	missense variant	-	NC_000002.12:g.222297133G>A	gnomAD
PAX3	P23760	p.Arg56Leu	rs267606931	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297132C>A	-
PAX3	P23760	p.Arg56Leu	rs267606931	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297132C>A	UniProt,dbSNP
PAX3	P23760	p.Arg56Leu	VAR_003794	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297132C>A	UniProt
PAX3	P23760	p.Arg56Leu	RCV000004438	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297132C>A	ClinVar
PAX3	P23760	p.Lys58Gln	rs1210507532	missense variant	-	NC_000002.12:g.222297127T>G	TOPMed
PAX3	P23760	p.Lys58Arg	rs1241473167	missense variant	-	NC_000002.12:g.222297126T>C	TOPMed
PAX3	P23760	p.Ile59Phe	VAR_003795	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Ile59Asn	VAR_003796	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Val60Met	VAR_003797	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Met62Val	VAR_003798	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Ala63Val	rs1484882324	missense variant	-	NC_000002.12:g.222297111G>A	TOPMed
PAX3	P23760	p.Ala63_Ile67del	VAR_003799	inframe_deletion	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.His65Asn	rs1190403023	missense variant	-	NC_000002.12:g.222297106G>T	TOPMed
PAX3	P23760	p.His65Gln	rs1319212514	missense variant	-	NC_000002.12:g.222297104G>C	gnomAD
PAX3	P23760	p.His65Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297104G>T	NCI-TCGA
PAX3	P23760	p.His65Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297106G>A	NCI-TCGA
PAX3	P23760	p.Gly66Ser	rs1305548051	missense variant	-	NC_000002.12:g.222297103C>T	gnomAD
PAX3	P23760	p.Ile67Thr	COSM4091889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297099A>G	NCI-TCGA Cosmic
PAX3	P23760	p.Arg68Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297097G>A	NCI-TCGA
PAX3	P23760	p.Cys70Ter	rs1356246522	stop gained	-	NC_000002.12:g.222297089G>T	gnomAD
PAX3	P23760	p.Cys70Ter	RCV000660200	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297089G>T	ClinVar
PAX3	P23760	p.Val71Phe	rs867285013	missense variant	-	NC_000002.12:g.222297088C>A	gnomAD
PAX3	P23760	p.Val71Ile	rs867285013	missense variant	-	NC_000002.12:g.222297088C>T	gnomAD
PAX3	P23760	p.Ser73Leu	rs1553593928	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297081G>A	UniProt,dbSNP
PAX3	P23760	p.Ser73Leu	VAR_013640	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297081G>A	UniProt
PAX3	P23760	p.Ser73Leu	rs1553593928	missense variant	-	NC_000002.12:g.222297081G>A	-
PAX3	P23760	p.Ser73Leu	RCV000660201	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297081G>A	ClinVar
PAX3	P23760	p.Leu76Arg	rs1553593925	missense variant	-	NC_000002.12:g.222297072A>C	-
PAX3	P23760	p.Leu76Arg	RCV000660202	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297072A>C	ClinVar
PAX3	P23760	p.Arg77Leu	rs1315006275	missense variant	-	NC_000002.12:g.222297069C>A	gnomAD
PAX3	P23760	p.Arg77His	COSM1405792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297069C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Val78Leu	rs1553593917	missense variant	-	NC_000002.12:g.222297067C>A	-
PAX3	P23760	p.Val78Leu	RCV000660203	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297067C>A	ClinVar
PAX3	P23760	p.Val78Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297067C>T	NCI-TCGA
PAX3	P23760	p.Val78Met	VAR_017534	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.His80Asp	rs387906947	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297061G>C	UniProt,dbSNP
PAX3	P23760	p.His80Asp	VAR_079619	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297061G>C	UniProt
PAX3	P23760	p.His80Asp	rs387906947	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297061G>C	-
PAX3	P23760	p.His80Asp	RCV000023560	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297061G>C	ClinVar
PAX3	P23760	p.Gly81Arg	rs483353059	missense variant	-	NC_000002.12:g.222297058C>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly81Cys	rs483353059	missense variant	-	NC_000002.12:g.222297058C>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly81Ser	rs483353059	missense variant	-	NC_000002.12:g.222297058C>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly81Ala	RCV000004430	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297057C>G	ClinVar
PAX3	P23760	p.Gly81Ala	rs587776586	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297057C>G	UniProt,dbSNP
PAX3	P23760	p.Gly81Ala	VAR_003800	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297057C>G	UniProt
PAX3	P23760	p.Gly81Ala	rs587776586	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297057C>G	-
PAX3	P23760	p.Gly81Cys	RCV000119819	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297058C>A	ClinVar
PAX3	P23760	p.Gly81Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297057C>T	NCI-TCGA
PAX3	P23760	p.Cys82Trp	rs777297575	missense variant	-	NC_000002.12:g.222297053G>C	ExAC,gnomAD
PAX3	P23760	p.Cys82Ter	rs777297575	stop gained	-	NC_000002.12:g.222297053G>T	ExAC,gnomAD
PAX3	P23760	p.Cys82Trp	RCV000826182	missense variant	Rare genetic deafness	NC_000002.12:g.222297053G>C	ClinVar
PAX3	P23760	p.Cys82Trp	RCV000660204	missense variant	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222297053G>C	ClinVar
PAX3	P23760	p.Cys82Ter	RCV000660205	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297053G>T	ClinVar
PAX3	P23760	p.Val83Phe	rs1173262760	missense variant	-	NC_000002.12:g.222297052C>A	TOPMed
PAX3	P23760	p.Val83Ile	COSM1017016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222297052C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Ser84Phe	rs104893651	missense variant	Waardenburg syndrome type 1 (ws1)	NC_000002.12:g.222297048G>A	-
PAX3	P23760	p.Ser84Phe	rs104893651	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297048G>A	UniProt,dbSNP
PAX3	P23760	p.Ser84Phe	VAR_003801	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297048G>A	UniProt
PAX3	P23760	p.Ser84Phe	RCV000004432	missense variant	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222297048G>A	ClinVar
PAX3	P23760	p.Ser84Phe	RCV000004433	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297048G>A	ClinVar
PAX3	P23760	p.Lys85Glu	VAR_003802	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Ile86Phe	RCV000721953	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297043T>A	ClinVar
PAX3	P23760	p.Leu87Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297039A>C	NCI-TCGA
PAX3	P23760	p.Tyr90His	RCV000004437	missense variant	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222297031A>G	ClinVar
PAX3	P23760	p.Tyr90Cys	rs1553593874	missense variant	-	NC_000002.12:g.222297030T>C	-
PAX3	P23760	p.Tyr90Cys	RCV000660206	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297030T>C	ClinVar
PAX3	P23760	p.Tyr90Ter	RCV000004427	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297020_222297033del	ClinVar
PAX3	P23760	p.Tyr90His	rs104893654	missense variant	-	NC_000002.12:g.222297031A>G	-
PAX3	P23760	p.Tyr90His	rs104893654	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297031A>G	UniProt,dbSNP
PAX3	P23760	p.Tyr90His	VAR_017535	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222297031A>G	UniProt
PAX3	P23760	p.Arg97Ser	rs758012824	missense variant	-	NC_000002.12:g.222297010G>T	ExAC,gnomAD
PAX3	P23760	p.Pro98Leu	rs1553593856	missense variant	-	NC_000002.12:g.222297006G>A	-
PAX3	P23760	p.Pro98Leu	RCV000660207	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222297006G>A	ClinVar
PAX3	P23760	p.Pro98Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222297007G>A	NCI-TCGA
PAX3	P23760	p.Gly99Ser	rs1257524664	missense variant	-	NC_000002.12:g.222297004C>T	gnomAD
PAX3	P23760	p.Gly99Asp	rs1189463428	missense variant	-	NC_000002.12:g.222297003C>T	gnomAD
PAX3	P23760	p.Gly99Asp	rs1189463428	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297003C>T	UniProt,dbSNP
PAX3	P23760	p.Gly99Asp	VAR_003803	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222297003C>T	UniProt
PAX3	P23760	p.Gly103Ser	rs1206058118	missense variant	-	NC_000002.12:g.222296992C>T	gnomAD
PAX3	P23760	p.Ser104Gly	rs1487084220	missense variant	-	NC_000002.12:g.222296989T>C	gnomAD
PAX3	P23760	p.Pro106Ala	rs764868613	missense variant	-	NC_000002.12:g.222296983G>C	ExAC,gnomAD
PAX3	P23760	p.Gln108Pro	rs762048678	missense variant	-	NC_000002.12:g.222295656T>G	ExAC,gnomAD
PAX3	P23760	p.Thr111Lys	rs774660138	missense variant	-	NC_000002.12:g.222295647G>T	ExAC,gnomAD
PAX3	P23760	p.Asp113Glu	rs367576138	missense variant	-	NC_000002.12:g.222295640G>C	ESP,TOPMed,gnomAD
PAX3	P23760	p.Val114Leu	rs763028698	missense variant	-	NC_000002.12:g.222295639C>A	ExAC,gnomAD
PAX3	P23760	p.Val114Met	rs763028698	missense variant	-	NC_000002.12:g.222295639C>T	ExAC,gnomAD
PAX3	P23760	p.Val114Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222295638A>T	NCI-TCGA
PAX3	P23760	p.Lys116Arg	rs1188288131	missense variant	-	NC_000002.12:g.222295632T>C	gnomAD
PAX3	P23760	p.Lys117Thr	rs1455014714	missense variant	-	NC_000002.12:g.222295629T>G	gnomAD
PAX3	P23760	p.Glu119Lys	COSM4822893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295624C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Tyr121Phe	rs769852829	missense variant	-	NC_000002.12:g.222295617T>A	ExAC,gnomAD
PAX3	P23760	p.Lys122Ter	RCV000004431	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222295611_222295615del	ClinVar
PAX3	P23760	p.Arg123Gly	rs1451539397	missense variant	-	NC_000002.12:g.222295612T>C	TOPMed,gnomAD
PAX3	P23760	p.Arg123Thr	COSM4822526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295611C>G	NCI-TCGA Cosmic
PAX3	P23760	p.Asn125Lys	rs1386561980	missense variant	-	NC_000002.12:g.222295604G>T	TOPMed
PAX3	P23760	p.Asn125Lys	COSM72080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295604G>C	NCI-TCGA Cosmic
PAX3	P23760	p.Asn125Thr	COSM4091883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295605T>G	NCI-TCGA Cosmic
PAX3	P23760	p.Pro126Leu	rs747035956	missense variant	-	NC_000002.12:g.222295602G>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly127Asp	rs1337651455	missense variant	-	NC_000002.12:g.222295599C>T	gnomAD
PAX3	P23760	p.Met128Ile	rs771950919	missense variant	-	NC_000002.12:g.222295595C>T	ExAC,gnomAD
PAX3	P23760	p.Met128Val	rs140921855	missense variant	-	NC_000002.12:g.222295597T>C	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Phe129Ter	RCV000004436	frameshift	Klein-Waardenberg's syndrome (WS3)	NC_000002.12:g.222295582_222295594del	ClinVar
PAX3	P23760	p.Trp131Ser	rs570065301	missense variant	-	NC_000002.12:g.222295587C>G	1000Genomes,ExAC,gnomAD
PAX3	P23760	p.Trp131Arg	rs1371533990	missense variant	-	NC_000002.12:g.222295588A>T	gnomAD
PAX3	P23760	p.Arg134Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.222295579G>A	NCI-TCGA
PAX3	P23760	p.Asp135Gly	rs1390228922	missense variant	-	NC_000002.12:g.222295575T>C	TOPMed
PAX3	P23760	p.Leu138Phe	rs1305407286	missense variant	-	NC_000002.12:g.222295567G>A	TOPMed
PAX3	P23760	p.Lys139Ter	RCV000223708	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222295564T>A	ClinVar
PAX3	P23760	p.Lys139Ter	rs876661317	stop gained	-	NC_000002.12:g.222295564T>A	-
PAX3	P23760	p.Asp140Glu	rs1346524816	missense variant	-	NC_000002.12:g.222295559G>T	TOPMed
PAX3	P23760	p.Val142Phe	rs1193030438	missense variant	-	NC_000002.12:g.222295555C>A	gnomAD
PAX3	P23760	p.Asp144Tyr	rs143780687	missense variant	-	NC_000002.12:g.222295549C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Thr147Ile	rs770182620	missense variant	-	NC_000002.12:g.222295539G>A	gnomAD
PAX3	P23760	p.Val148Met	COSM210140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222295537C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Ser152Asn	rs761711527	missense variant	-	NC_000002.12:g.222294298C>T	ExAC,gnomAD
PAX3	P23760	p.Ser153Thr	rs1240126511	missense variant	-	NC_000002.12:g.222294296A>T	TOPMed
PAX3	P23760	p.Ser153Tyr	COSM4091880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222294295G>T	NCI-TCGA Cosmic
PAX3	P23760	p.Ser155Ter	RCV000626395	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294289del	ClinVar
PAX3	P23760	p.Arg156His	rs768608755	missense variant	-	NC_000002.12:g.222294286C>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Arg156Leu	rs768608755	missense variant	-	NC_000002.12:g.222294286C>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Arg156Cys	rs774422308	missense variant	-	NC_000002.12:g.222294287G>A	ExAC,gnomAD
PAX3	P23760	p.Arg156Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222294286C>G	NCI-TCGA
PAX3	P23760	p.Ile157Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222294284T>C	NCI-TCGA
PAX3	P23760	p.Arg159Lys	rs1165702620	missense variant	-	NC_000002.12:g.222294277C>T	gnomAD
PAX3	P23760	p.Ser160Asn	rs894521557	missense variant	-	NC_000002.12:g.222294274C>T	TOPMed,gnomAD
PAX3	P23760	p.Lys161Ter	RCV000660209	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294269_222294271delinsTA	ClinVar
PAX3	P23760	p.Phe162Leu	rs1174328913	missense variant	-	NC_000002.12:g.222294267G>C	TOPMed
PAX3	P23760	p.Phe162Leu	rs148977636	missense variant	-	NC_000002.12:g.222294269A>G	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly163Arg	rs775317769	missense variant	-	NC_000002.12:g.222294266C>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly163Glu	rs1003156769	missense variant	-	NC_000002.12:g.222294265C>T	TOPMed
PAX3	P23760	p.Lys164Arg	rs1475865343	missense variant	-	NC_000002.12:g.222294262T>C	gnomAD
PAX3	P23760	p.Gly165Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222294260C>T	NCI-TCGA
PAX3	P23760	p.Glu168Lys	rs1217702426	missense variant	-	NC_000002.12:g.222294251C>T	TOPMed,gnomAD
PAX3	P23760	p.Glu169Lys	rs878853019	missense variant	-	NC_000002.12:g.222294248C>T	-
PAX3	P23760	p.Glu169Lys	RCV000224497	missense variant	-	NC_000002.12:g.222294248C>T	ClinVar
PAX3	P23760	p.Ala170Thr	rs1553592728	missense variant	-	NC_000002.12:g.222294245C>T	-
PAX3	P23760	p.Ala170Asp	rs376921556	missense variant	-	NC_000002.12:g.222294244G>T	ESP,TOPMed
PAX3	P23760	p.Ala170Thr	RCV000611258	missense variant	-	NC_000002.12:g.222294245C>T	ClinVar
PAX3	P23760	p.Leu172Ser	rs780627234	missense variant	-	NC_000002.12:g.222294238A>G	ExAC
PAX3	P23760	p.Glu173Asp	rs770472955	missense variant	-	NC_000002.12:g.222294234C>G	ExAC,gnomAD
PAX3	P23760	p.Arg174Thr	rs747555465	missense variant	-	NC_000002.12:g.222294232C>G	ExAC,gnomAD
PAX3	P23760	p.Lys175Asn	rs116473352	missense variant	-	NC_000002.12:g.222294228C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Lys175Glu	COSM4091877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222294230T>C	NCI-TCGA Cosmic
PAX3	P23760	p.Lys175Asn	RCV000219480	missense variant	-	NC_000002.12:g.222294228C>G	ClinVar
PAX3	P23760	p.Glu176Ter	RCV000660210	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294230dup	ClinVar
PAX3	P23760	p.Ala177Thr	rs753019744	missense variant	-	NC_000002.12:g.222294224C>T	ExAC,gnomAD
PAX3	P23760	p.Ala177Ter	RCV000660212	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294222_222294223insAG	ClinVar
PAX3	P23760	p.Ala177Ser	rs753019744	missense variant	-	NC_000002.12:g.222294224C>A	ExAC,gnomAD
PAX3	P23760	p.Ser180Arg	RCV000601148	missense variant	-	NC_000002.12:g.222294213G>C	ClinVar
PAX3	P23760	p.Ser180Arg	RCV000765615	missense variant	Alveolar rhabdomyosarcoma (RMS2)	NC_000002.12:g.222294213G>C	ClinVar
PAX3	P23760	p.Ser180Arg	rs200679164	missense variant	-	NC_000002.12:g.222294213G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Glu181Lys	rs145331372	missense variant	-	NC_000002.12:g.222294212C>T	ESP,TOPMed
PAX3	P23760	p.Lys182Glu	rs201489986	missense variant	-	NC_000002.12:g.222294209T>C	1000Genomes,gnomAD
PAX3	P23760	p.Lys182Gln	rs201489986	missense variant	-	NC_000002.12:g.222294209T>G	1000Genomes,gnomAD
PAX3	P23760	p.Lys183Gln	rs766433399	missense variant	-	NC_000002.12:g.222294206T>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ala184Thr	rs760803903	missense variant	-	NC_000002.12:g.222294203C>T	ExAC
PAX3	P23760	p.His186Ter	RCV000004429	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294195_222294196GT[1]	ClinVar
PAX3	P23760	p.His186Ter	RCV000023561	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222294197del	ClinVar
PAX3	P23760	p.Ser187Arg	RCV000221736	missense variant	-	NC_000002.12:g.222294192G>C	ClinVar
PAX3	P23760	p.Ser187Arg	rs375978379	missense variant	-	NC_000002.12:g.222294192G>C	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ile188Met	rs759181003	missense variant	-	NC_000002.12:g.222294189G>C	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ile188Val	rs775093979	missense variant	-	NC_000002.12:g.222294191T>C	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ile188Leu	rs775093979	missense variant	-	NC_000002.12:g.222294191T>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Asp189Tyr	rs776316578	missense variant	-	NC_000002.12:g.222294188C>A	ExAC,gnomAD
PAX3	P23760	p.Asp189Asn	rs776316578	missense variant	-	NC_000002.12:g.222294188C>T	ExAC,gnomAD
PAX3	P23760	p.Gly190Asp	rs1158153326	missense variant	-	NC_000002.12:g.222294184C>T	TOPMed
PAX3	P23760	p.Ile191Phe	rs746473854	missense variant	-	NC_000002.12:g.222294182T>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ile191Thr	rs199560470	missense variant	-	NC_000002.12:g.222294181A>G	1000Genomes,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ile191Thr	RCV000214708	missense variant	-	NC_000002.12:g.222294181A>G	ClinVar
PAX3	P23760	p.Ser193Arg	rs80081387	missense variant	-	NC_000002.12:g.222294174G>C	1000Genomes,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ser193Asn	COSM3838712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222294175C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Ser193Arg	rs80081387	missense variant	-	NC_000002.12:g.222294174G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Glu194Lys	rs148454691	missense variant	-	NC_000002.12:g.222294173C>T	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Glu194Lys	RCV000606544	missense variant	-	NC_000002.12:g.222294173C>T	ClinVar
PAX3	P23760	p.Glu194Lys	RCV000765614	missense variant	Alveolar rhabdomyosarcoma (RMS2)	NC_000002.12:g.222294173C>T	ClinVar
PAX3	P23760	p.Arg195Ter	rs1220219700	stop gained	-	NC_000002.12:g.222294170G>A	gnomAD
PAX3	P23760	p.Arg195Pro	rs779201672	missense variant	-	NC_000002.12:g.222294169C>G	ExAC,gnomAD
PAX3	P23760	p.Arg195Ter	RCV000579086	nonsense	-	NC_000002.12:g.222294170G>A	ClinVar
PAX3	P23760	p.Arg195Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222294169C>T	NCI-TCGA
PAX3	P23760	p.Ser197Leu	rs1246737713	missense variant	-	NC_000002.12:g.222232280G>A	gnomAD
PAX3	P23760	p.Ser197Leu	rs1246737713	missense variant	-	NC_000002.12:g.222232280G>A	NCI-TCGA Cosmic
PAX3	P23760	p.Ala198Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232278C>T	NCI-TCGA
PAX3	P23760	p.Ala198Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232277G>T	NCI-TCGA
PAX3	P23760	p.Pro199Arg	rs762351099	missense variant	-	NC_000002.12:g.222232274G>C	ExAC,gnomAD
PAX3	P23760	p.Gln200Lys	rs1292183820	missense variant	-	NC_000002.12:g.222232272G>T	gnomAD
PAX3	P23760	p.Ser201Ter	rs1057524511	stop gained	-	NC_000002.12:g.222232268G>C	-
PAX3	P23760	p.Ser201Ter	rs1057524511	stop gained	-	NC_000002.12:g.222232268G>C	NCI-TCGA
PAX3	P23760	p.Ser201Ter	RCV000439995	nonsense	-	NC_000002.12:g.222232268G>C	ClinVar
PAX3	P23760	p.Asp202Ala	rs753280020	missense variant	-	NC_000002.12:g.222232265T>G	ExAC,gnomAD
PAX3	P23760	p.Gly204Val	rs765799185	missense variant	-	NC_000002.12:g.222232259C>A	ExAC,gnomAD
PAX3	P23760	p.Gly204Ser	rs1355952266	missense variant	-	NC_000002.12:g.222232260C>T	gnomAD
PAX3	P23760	p.Ile207Thr	rs759986156	missense variant	-	NC_000002.12:g.222232250A>G	ExAC,gnomAD
PAX3	P23760	p.Leu213Ile	rs1444227086	missense variant	-	NC_000002.12:g.222232233A>T	TOPMed
PAX3	P23760	p.Arg217Lys	rs1311226697	missense variant	-	NC_000002.12:g.222232220C>T	TOPMed
PAX3	P23760	p.Lys218Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232217T>C	NCI-TCGA
PAX3	P23760	p.Arg220Cys	rs917104474	missense variant	-	NC_000002.12:g.222232212G>A	gnomAD
PAX3	P23760	p.Arg220His	COSM1017014	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222232211C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Arg220Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232212G>T	NCI-TCGA
PAX3	P23760	p.Arg221Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232208C>A	NCI-TCGA
PAX3	P23760	p.Arg223Gln	rs876657717	missense variant	-	NC_000002.12:g.222232202C>T	gnomAD
PAX3	P23760	p.Arg223Ter	rs772241382	stop gained	-	NC_000002.12:g.222232203G>A	ExAC,gnomAD
PAX3	P23760	p.Arg223Ter	RCV000599259	nonsense	-	NC_000002.12:g.222232203G>A	ClinVar
PAX3	P23760	p.Arg223Gln	RCV000216335	missense variant	Waardenburg syndrome	NC_000002.12:g.222232202C>T	ClinVar
PAX3	P23760	p.Arg223_Phe479del	VAR_079620	inframe_deletion	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Thr225Ile	rs1432016603	missense variant	-	NC_000002.12:g.222232196G>A	gnomAD
PAX3	P23760	p.Ala228Val	rs775433032	missense variant	-	NC_000002.12:g.222232187G>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Glu229Lys	rs1455117644	missense variant	-	NC_000002.12:g.222232185C>T	gnomAD
PAX3	P23760	p.Leu231Pro	rs1553575191	missense variant	-	NC_000002.12:g.222232178A>G	-
PAX3	P23760	p.Leu231Pro	RCV000660213	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232178A>G	ClinVar
PAX3	P23760	p.Leu231Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232178A>T	NCI-TCGA
PAX3	P23760	p.Leu234Pro	VAR_079621	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Glu235Gly	rs1248925494	missense variant	-	NC_000002.12:g.222232166T>C	gnomAD
PAX3	P23760	p.Arg236Ser	rs769650688	missense variant	-	NC_000002.12:g.222232164G>T	ExAC,gnomAD
PAX3	P23760	p.Arg236His	rs745673188	missense variant	-	NC_000002.12:g.222232163C>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Arg236His	rs745673188	missense variant	-	NC_000002.12:g.222232163C>T	NCI-TCGA,NCI-TCGA Cosmic
PAX3	P23760	p.Phe238Ser	VAR_003804	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Arg240Ile	rs1211774060	missense variant	-	NC_000002.12:g.222232151C>A	TOPMed
PAX3	P23760	p.Arg240Ile	rs1211774060	missense variant	-	NC_000002.12:g.222232151C>A	NCI-TCGA Cosmic
PAX3	P23760	p.Thr241Ser	rs529347506	missense variant	-	NC_000002.12:g.222232149T>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Thr241Ser	RCV000615280	missense variant	-	NC_000002.12:g.222232149T>A	ClinVar
PAX3	P23760	p.His242Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232146G>C	NCI-TCGA
PAX3	P23760	p.Tyr243Ter	RCV000626391	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232132_222232144del	ClinVar
PAX3	P23760	p.Pro244Ser	rs1553575183	missense variant	-	NC_000002.12:g.222232140G>A	-
PAX3	P23760	p.Pro244Leu	rs777246206	missense variant	-	NC_000002.12:g.222232139G>A	ExAC,gnomAD
PAX3	P23760	p.Pro244Ser	RCV000660214	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232140G>A	ClinVar
PAX3	P23760	p.Pro244Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232140G>T	NCI-TCGA
PAX3	P23760	p.Asp245Glu	COSM2156044	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222232135G>C	NCI-TCGA Cosmic
PAX3	P23760	p.Asp245Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232137C>A	NCI-TCGA
PAX3	P23760	p.Arg255Lys	rs755602285	missense variant	-	NC_000002.12:g.222232106C>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ala256Val	rs766804639	missense variant	-	NC_000002.12:g.222232103G>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ala256Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232104C>G	NCI-TCGA
PAX3	P23760	p.Thr259Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232095T>A	NCI-TCGA
PAX3	P23760	p.Glu260Lys	rs1427884692	missense variant	-	NC_000002.12:g.222232092C>T	gnomAD
PAX3	P23760	p.Ala261Ser	rs1171269735	missense variant	-	NC_000002.12:g.222232089C>A	gnomAD
PAX3	P23760	p.Arg262Ter	rs886041319	stop gained	-	NC_000002.12:g.222232086G>A	-
PAX3	P23760	p.Arg262Gln	rs1364517233	missense variant	-	NC_000002.12:g.222232085C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Arg262Gln	rs1364517233	missense variant	-	NC_000002.12:g.222232085C>T	gnomAD
PAX3	P23760	p.Arg262Ter	RCV000660215	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232086G>A	ClinVar
PAX3	P23760	p.Arg262Ter	RCV000315662	nonsense	-	NC_000002.12:g.222232086G>A	ClinVar
PAX3	P23760	p.Val263Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222232083C>A	NCI-TCGA
PAX3	P23760	p.Gln264Pro	RCV000660216	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232079T>G	ClinVar
PAX3	P23760	p.Gln264Pro	rs1553575157	missense variant	-	NC_000002.12:g.222232079T>G	-
PAX3	P23760	p.Gln264Ter	RCV000626394	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222232080G>A	ClinVar
PAX3	P23760	p.Gln264Ter	rs1553575159	stop gained	-	NC_000002.12:g.222232080G>A	-
PAX3	P23760	p.Val265Ile	rs1210072810	missense variant	-	NC_000002.12:g.222221387C>T	gnomAD
PAX3	P23760	p.Val265Phe	VAR_003805	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Trp266Cys	VAR_017536	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Asn269Ser	COSM1405778	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222221374T>C	NCI-TCGA Cosmic
PAX3	P23760	p.Arg270Cys	RCV000660217	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221372G>A	ClinVar
PAX3	P23760	p.Arg270Cys	rs1228590199	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222221372G>A	UniProt,dbSNP
PAX3	P23760	p.Arg270Cys	VAR_013619	missense variant	Waardenburg syndrome 3 (WS3)	NC_000002.12:g.222221372G>A	UniProt
PAX3	P23760	p.Arg270Cys	rs1228590199	missense variant	-	NC_000002.12:g.222221372G>A	gnomAD
PAX3	P23760	p.Arg270His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222221371C>T	NCI-TCGA
PAX3	P23760	p.Arg270Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222221372G>T	NCI-TCGA
PAX3	P23760	p.Arg271Cys	rs1380858784	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222221369G>A	UniProt,dbSNP
PAX3	P23760	p.Arg271Cys	VAR_017537	missense variant	Waardenburg syndrome 1 (WS1)	NC_000002.12:g.222221369G>A	UniProt
PAX3	P23760	p.Arg271Cys	rs1380858784	missense variant	-	NC_000002.12:g.222221369G>A	gnomAD
PAX3	P23760	p.Arg271His	rs774528745	missense variant	-	NC_000002.12:g.222221368C>T	ExAC,gnomAD
PAX3	P23760	p.Arg271Cys	RCV000660218	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221369G>A	ClinVar
PAX3	P23760	p.Arg271His	RCV000660219	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221368C>T	ClinVar
PAX3	P23760	p.Arg271His	RCV000372931	missense variant	-	NC_000002.12:g.222221368C>T	ClinVar
PAX3	P23760	p.Arg271Gly	VAR_003806	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Ala272Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222221365G>T	NCI-TCGA
PAX3	P23760	p.Ala272Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222221365G>A	NCI-TCGA
PAX3	P23760	p.Ala272Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222221366C>T	NCI-TCGA
PAX3	P23760	p.Arg273Lys	RCV000660220	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221362C>T	ClinVar
PAX3	P23760	p.Arg273Lys	rs1020175890	missense variant	-	NC_000002.12:g.222221362C>T	TOPMed
PAX3	P23760	p.Arg273Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222221362C>A	NCI-TCGA
PAX3	P23760	p.Trp274Ter	RCV000760344	nonsense	-	NC_000002.12:g.222221359C>T	ClinVar
PAX3	P23760	p.Lys276HisPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.222221354_222221355insTTCCAGCTATACAGACAGCTTTGTG	NCI-TCGA
PAX3	P23760	p.Gln277Ter	COSM1405776	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.222221351G>A	NCI-TCGA Cosmic
PAX3	P23760	p.Gly279Arg	rs1064796626	missense variant	-	NC_000002.12:g.222221345C>T	TOPMed
PAX3	P23760	p.Gly279Glu	COSM1306479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222221344C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Gly279Arg	RCV000482089	missense variant	-	NC_000002.12:g.222221345C>T	ClinVar
PAX3	P23760	p.Asn281Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222221338T>G	NCI-TCGA
PAX3	P23760	p.Met284Thr	rs1366586889	missense variant	-	NC_000002.12:g.222221329A>G	gnomAD
PAX3	P23760	p.Ala285Val	rs762975677	missense variant	-	NC_000002.12:g.222221326G>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ala285Thr	COSM4091869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222221327C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Asn287Ser	rs1455713747	missense variant	-	NC_000002.12:g.222221320T>C	gnomAD
PAX3	P23760	p.His288Arg	rs776672400	missense variant	-	NC_000002.12:g.222221317T>C	gnomAD
PAX3	P23760	p.Ile290Ser	rs1259070275	missense variant	-	NC_000002.12:g.222221311A>C	gnomAD
PAX3	P23760	p.Ile290Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222221311A>T	NCI-TCGA
PAX3	P23760	p.Pro291Ser	rs199651907	missense variant	-	NC_000002.12:g.222221309G>A	-
PAX3	P23760	p.Pro291Ser	RCV000608233	missense variant	-	NC_000002.12:g.222221309G>A	ClinVar
PAX3	P23760	p.Pro291His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222221308G>T	NCI-TCGA
PAX3	P23760	p.Gly292Arg	rs142651003	missense variant	-	NC_000002.12:g.222221306C>T	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly292Arg	rs142651003	missense variant	-	NC_000002.12:g.222221306C>G	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly292Ter	RCV000606448	frameshift	Rare genetic deafness	NC_000002.12:g.222221309dup	ClinVar
PAX3	P23760	p.Gly293Val	rs760533411	missense variant	-	NC_000002.12:g.222221302C>A	ExAC,gnomAD
PAX3	P23760	p.Phe294Leu	rs771990168	missense variant	-	NC_000002.12:g.222221300A>G	ExAC
PAX3	P23760	p.Phe294SerPheSerTerUnkUnk	COSM1405775	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.222221301C>-	NCI-TCGA Cosmic
PAX3	P23760	p.Phe294Ter	RCV000616546	frameshift	Waardenburg syndrome	NC_000002.12:g.222221306dup	ClinVar
PAX3	P23760	p.Pro295Leu	rs747841876	missense variant	-	NC_000002.12:g.222221296G>A	ExAC,gnomAD
PAX3	P23760	p.Pro300Thr	rs868330891	missense variant	-	NC_000002.12:g.222221282G>T	gnomAD
PAX3	P23760	p.Pro300Ser	rs868330891	missense variant	-	NC_000002.12:g.222221282G>A	gnomAD
PAX3	P23760	p.Pro303Ser	rs1287241728	missense variant	-	NC_000002.12:g.222221273G>A	TOPMed,gnomAD
PAX3	P23760	p.Thr304Lys	rs372190620	missense variant	-	NC_000002.12:g.222221269G>T	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Thr304Met	rs372190620	missense variant	-	NC_000002.12:g.222221269G>A	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Tyr305Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.222221265G>T	NCI-TCGA
PAX3	P23760	p.Leu307Met	rs756517394	missense variant	-	NC_000002.12:g.222221261G>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ser308Leu	rs367982640	missense variant	-	NC_000002.12:g.222221257G>A	ESP,ExAC,gnomAD
PAX3	P23760	p.Ser308Ter	RCV000660221	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221259del	ClinVar
PAX3	P23760	p.Glu309Asp	rs926262801	missense variant	-	NC_000002.12:g.222221253C>G	TOPMed,gnomAD
PAX3	P23760	p.Thr310Ala	rs72960874	missense variant	-	NC_000002.12:g.222221252T>C	1000Genomes,gnomAD
PAX3	P23760	p.Ser311Pro	rs1229892794	missense variant	-	NC_000002.12:g.222221249A>G	TOPMed,gnomAD
PAX3	P23760	p.Gln313Arg	rs970427164	missense variant	-	NC_000002.12:g.222221242T>C	gnomAD
PAX3	P23760	p.Pro314Arg	rs1430643720	missense variant	-	NC_000002.12:g.222221239G>C	gnomAD
PAX3	P23760	p.Thr315Lys	rs2234675	missense variant	-	NC_000002.12:g.222221236G>T	UniProt,dbSNP
PAX3	P23760	p.Thr315Lys	VAR_003807	missense variant	-	NC_000002.12:g.222221236G>T	UniProt
PAX3	P23760	p.Thr315Lys	rs2234675	missense variant	-	NC_000002.12:g.222221236G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Thr315Ile	rs2234675	missense variant	-	NC_000002.12:g.222221236G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Thr315Lys	RCV000348942	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222221236G>T	ClinVar
PAX3	P23760	p.Thr315Lys	RCV000626405	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222221236G>T	ClinVar
PAX3	P23760	p.Thr315Lys	RCV000293967	missense variant	Waardenburg syndrome	NC_000002.12:g.222221236G>T	ClinVar
PAX3	P23760	p.Ser316Tyr	rs763098498	missense variant	-	NC_000002.12:g.222221233G>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ser316Cys	rs763098498	missense variant	-	NC_000002.12:g.222221233G>C	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ile317Leu	rs1389436609	missense variant	-	NC_000002.12:g.222221231T>G	TOPMed,gnomAD
PAX3	P23760	p.Pro318Gln	rs1191289484	missense variant	-	NC_000002.12:g.222221227G>T	gnomAD
PAX3	P23760	p.Val321Ala	rs1448852118	missense variant	-	NC_000002.12:g.222220351A>G	TOPMed
PAX3	P23760	p.Val321Met	rs750407449	missense variant	-	NC_000002.12:g.222220352C>T	ExAC,gnomAD
PAX3	P23760	p.Asp323Gly	rs879255434	missense variant	-	NC_000002.12:g.222220345T>C	TOPMed
PAX3	P23760	p.Asp323Gly	RCV000239295	missense variant	-	NC_000002.12:g.222220345T>C	ClinVar
PAX3	P23760	p.Ser326Thr	rs552530067	missense variant	-	NC_000002.12:g.222220336C>G	gnomAD
PAX3	P23760	p.Thr327Ile	rs767521734	missense variant	-	NC_000002.12:g.222220333G>A	ExAC,gnomAD
PAX3	P23760	p.Val328Ile	RCV000615536	missense variant	-	NC_000002.12:g.222220331C>T	ClinVar
PAX3	P23760	p.Val328Gly	rs763965838	missense variant	-	NC_000002.12:g.222220330A>C	ExAC,gnomAD
PAX3	P23760	p.Val328Ile	rs149799356	missense variant	-	NC_000002.12:g.222220331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Arg330Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222220324C>A	NCI-TCGA
PAX3	P23760	p.Arg330Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222220324C>T	NCI-TCGA
PAX3	P23760	p.Pro331Thr	rs1407769257	missense variant	-	NC_000002.12:g.222220322G>T	TOPMed,gnomAD
PAX3	P23760	p.Pro331Arg	rs1395585771	missense variant	-	NC_000002.12:g.222220321G>C	gnomAD
PAX3	P23760	p.Pro331His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222220321G>T	NCI-TCGA
PAX3	P23760	p.Pro333Leu	rs551614431	missense variant	-	NC_000002.12:g.222220315G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Pro335Leu	rs769211597	missense variant	-	NC_000002.12:g.222220309G>A	ExAC,gnomAD
PAX3	P23760	p.Pro335Ser	rs151199924	missense variant	-	NC_000002.12:g.222220310G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Pro335Ser	RCV000222451	missense variant	-	NC_000002.12:g.222220310G>A	ClinVar
PAX3	P23760	p.Pro336Ser	rs745347593	missense variant	-	NC_000002.12:g.222220307G>A	ExAC,gnomAD
PAX3	P23760	p.Ser337Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222220303C>A	NCI-TCGA
PAX3	P23760	p.Gln341Ter	RCV000660222	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222220292G>A	ClinVar
PAX3	P23760	p.Gln341Ter	rs1553572740	stop gained	-	NC_000002.12:g.222220292G>A	-
PAX3	P23760	p.Ser342Asn	rs1179657643	missense variant	-	NC_000002.12:g.222220288C>T	gnomAD
PAX3	P23760	p.Ser342Arg	rs531422957	missense variant	-	NC_000002.12:g.222220289T>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Thr343Met	rs771371167	missense variant	-	NC_000002.12:g.222220285G>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Pro345Ser	rs1367735600	missense variant	-	NC_000002.12:g.222220280G>A	TOPMed
PAX3	P23760	p.Pro345His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222220279G>T	NCI-TCGA
PAX3	P23760	p.Ser346Pro	rs778178524	missense variant	-	NC_000002.12:g.222220277A>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Asn347Lys	rs748365394	missense variant	-	NC_000002.12:g.222220272G>C	ExAC,gnomAD
PAX3	P23760	p.Pro348Leu	rs1255868855	missense variant	-	NC_000002.12:g.222220270G>A	gnomAD
PAX3	P23760	p.Pro348Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222220271G>A	NCI-TCGA
PAX3	P23760	p.Asp349Glu	rs149804699	missense variant	-	NC_000002.12:g.222220266G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ser351Gly	rs753902442	missense variant	-	NC_000002.12:g.222220262T>C	ExAC,gnomAD
PAX3	P23760	p.Ser351Ile	rs1197323370	missense variant	-	NC_000002.12:g.222220261C>A	TOPMed,gnomAD
PAX3	P23760	p.Ser352Pro	rs1266309070	missense variant	-	NC_000002.12:g.222220259A>G	gnomAD
PAX3	P23760	p.Cys355Tyr	rs1313206820	missense variant	-	NC_000002.12:g.222220249C>T	TOPMed,gnomAD
PAX3	P23760	p.Leu356Val	rs1464363854	missense variant	-	NC_000002.12:g.222220247G>C	TOPMed
PAX3	P23760	p.Pro357Ser	rs1376906264	missense variant	-	NC_000002.12:g.222220244G>A	TOPMed,gnomAD
PAX3	P23760	p.Ser358Arg	rs751534630	missense variant	-	NC_000002.12:g.222220239G>C	ExAC,gnomAD
PAX3	P23760	p.Ser358Arg	rs751534630	missense variant	-	NC_000002.12:g.222220239G>T	ExAC,gnomAD
PAX3	P23760	p.Ser358Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222220240C>T	NCI-TCGA
PAX3	P23760	p.Thr359Pro	COSM1017008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220238T>G	NCI-TCGA Cosmic
PAX3	P23760	p.Arg360Gly	rs1390282619	missense variant	-	NC_000002.12:g.222220235T>C	gnomAD
PAX3	P23760	p.Arg360Lys	rs1156289211	missense variant	-	NC_000002.12:g.222220234C>T	gnomAD
PAX3	P23760	p.His361Arg	rs763833464	missense variant	-	NC_000002.12:g.222220231T>C	ExAC,gnomAD
PAX3	P23760	p.Phe363Ile	COSM1017006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220226A>T	NCI-TCGA Cosmic
PAX3	P23760	p.Ser364Ala	COSM72079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220223A>C	NCI-TCGA Cosmic
PAX3	P23760	p.Ser365Cys	COSM4859575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220220T>A	NCI-TCGA Cosmic
PAX3	P23760	p.Tyr366Asn	rs762763009	missense variant	-	NC_000002.12:g.222220217A>T	ExAC,gnomAD
PAX3	P23760	p.Thr367Ala	rs368438257	missense variant	-	NC_000002.12:g.222220214T>C	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Asp368Asn	rs1243076475	missense variant	-	NC_000002.12:g.222220211C>T	gnomAD
PAX3	P23760	p.Ser369Arg	rs931413137	missense variant	-	NC_000002.12:g.222220206G>T	TOPMed,gnomAD
PAX3	P23760	p.Pro372Leu	rs776176860	missense variant	-	NC_000002.12:g.222220198G>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Pro373Leu	rs200701839	missense variant	-	NC_000002.12:g.222220195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Pro373Ala	rs1357356043	missense variant	-	NC_000002.12:g.222220196G>C	TOPMed,gnomAD
PAX3	P23760	p.Pro373Leu	RCV000288552	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222220195G>A	ClinVar
PAX3	P23760	p.Pro373Leu	RCV000382870	missense variant	Waardenburg syndrome	NC_000002.12:g.222220195G>A	ClinVar
PAX3	P23760	p.Ser374Leu	rs45607236	missense variant	-	NC_000002.12:g.222220192G>A	TOPMed,gnomAD
PAX3	P23760	p.Ser374TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.222220192G>-	NCI-TCGA
PAX3	P23760	p.Gly375Val	rs1436278427	missense variant	-	NC_000002.12:g.222220189C>A	TOPMed
PAX3	P23760	p.Pro376Ser	rs1435787173	missense variant	-	NC_000002.12:g.222220187G>A	gnomAD
PAX3	P23760	p.Pro376His	COSM6090782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222220186G>T	NCI-TCGA Cosmic
PAX3	P23760	p.Pro376HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.222220176_222220186GGGGTTGGAGG>-	NCI-TCGA
PAX3	P23760	p.Pro376ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.222220187_222220188insCCAC	NCI-TCGA
PAX3	P23760	p.Pro379Ser	rs547446014	missense variant	-	NC_000002.12:g.222220178G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Met380Val	rs755170133	missense variant	-	NC_000002.12:g.222220175T>C	ExAC,gnomAD
PAX3	P23760	p.Met380Thr	rs749503361	missense variant	-	NC_000002.12:g.222220174A>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Asn381Lys	rs780344754	missense variant	-	NC_000002.12:g.222220170G>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Asn381Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222220170G>C	NCI-TCGA
PAX3	P23760	p.Pro382His	rs756229758	missense variant	-	NC_000002.12:g.222220168G>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Thr383Ala	rs751571864	missense variant	-	NC_000002.12:g.222220166T>C	ExAC,gnomAD
PAX3	P23760	p.Thr383Ser	rs1385065793	missense variant	-	NC_000002.12:g.222220165G>C	TOPMed,gnomAD
PAX3	P23760	p.Ile384Thr	rs139806736	missense variant	-	NC_000002.12:g.222220162A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Asn386Asp	rs1209002484	missense variant	-	NC_000002.12:g.222220157T>C	TOPMed
PAX3	P23760	p.Gly387Asp	rs987480491	missense variant	-	NC_000002.12:g.222220153C>T	TOPMed
PAX3	P23760	p.Ser389Leu	rs758136826	missense variant	-	NC_000002.12:g.222220147G>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gln391His	VAR_013641	Missense	Waardenburg syndrome 1 (WS1) [MIM:193500]	-	UniProt
PAX3	P23760	p.Val392Ile	rs1483648474	missense variant	-	NC_000002.12:g.222202190C>T	TOPMed
PAX3	P23760	p.Val392Ala	rs906415673	missense variant	-	NC_000002.12:g.222202189A>G	TOPMed,gnomAD
PAX3	P23760	p.Met393Thr	rs1418077577	missense variant	-	NC_000002.12:g.222202186A>G	TOPMed
PAX3	P23760	p.Gly394Glu	rs1349084587	missense variant	-	NC_000002.12:g.222202183C>T	gnomAD
PAX3	P23760	p.Leu395Phe	rs372297667	missense variant	-	NC_000002.12:g.222202181G>A	ESP,TOPMed,gnomAD
PAX3	P23760	p.Leu396Pro	rs1415590074	missense variant	-	NC_000002.12:g.222202177A>G	gnomAD
PAX3	P23760	p.Thr397Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.222202175_222202176insCAGGAGTCCCATTACCTAAAAAGCTGCGTGTGTTTCCTTA	NCI-TCGA
PAX3	P23760	p.His399Asp	rs1553568937	missense variant	-	NC_000002.12:g.222202169G>C	-
PAX3	P23760	p.His399Asp	RCV000626397	missense variant	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222202169G>C	ClinVar
PAX3	P23760	p.Gly400Ser	rs752573217	missense variant	-	NC_000002.12:g.222202166C>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly400Cys	rs752573217	missense variant	-	NC_000002.12:g.222202166C>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly401Val	rs1469306010	missense variant	-	NC_000002.12:g.222202162C>A	gnomAD
PAX3	P23760	p.Val402Ile	rs374318137	missense variant	-	NC_000002.12:g.222202160C>T	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Val402Ile	RCV000376940	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222202160C>T	ClinVar
PAX3	P23760	p.Val402Ala	rs1184692229	missense variant	-	NC_000002.12:g.222202159A>G	gnomAD
PAX3	P23760	p.Val402Leu	rs374318137	missense variant	-	NC_000002.12:g.222202160C>A	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Val402Ile	RCV000322316	missense variant	Waardenburg syndrome	NC_000002.12:g.222202160C>T	ClinVar
PAX3	P23760	p.Pro403Leu	rs1231011619	missense variant	-	NC_000002.12:g.222202156G>A	TOPMed,gnomAD
PAX3	P23760	p.Pro403Thr	rs1471725623	missense variant	-	NC_000002.12:g.222202157G>T	TOPMed,gnomAD
PAX3	P23760	p.Pro403Ala	rs1471725623	missense variant	-	NC_000002.12:g.222202157G>C	TOPMed,gnomAD
PAX3	P23760	p.Pro403Ser	rs1471725623	missense variant	-	NC_000002.12:g.222202157G>A	TOPMed,gnomAD
PAX3	P23760	p.Pro406Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222202148G>T	NCI-TCGA
PAX3	P23760	p.Gln407His	rs754746623	missense variant	-	NC_000002.12:g.222202143C>G	ExAC,gnomAD
PAX3	P23760	p.Thr408Ala	rs1287043631	missense variant	-	NC_000002.12:g.222202142T>C	TOPMed
PAX3	P23760	p.Tyr410Phe	RCV000262533	missense variant	Craniofacial deafness hand syndrome (CDHS)	NC_000002.12:g.222202135T>A	ClinVar
PAX3	P23760	p.Tyr410Phe	rs886055675	missense variant	-	NC_000002.12:g.222202135T>A	TOPMed,gnomAD
PAX3	P23760	p.Tyr410Phe	RCV000357449	missense variant	Waardenburg syndrome	NC_000002.12:g.222202135T>A	ClinVar
PAX3	P23760	p.Ala411Val	rs1042051	missense variant	-	NC_000002.12:g.222202132G>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ala411Thr	rs549206921	missense variant	-	NC_000002.12:g.222202133C>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ala411Glu	rs1042051	missense variant	-	NC_000002.12:g.222202132G>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ala411ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.222202133_222202134insG	NCI-TCGA
PAX3	P23760	p.Leu412Pro	rs1348067917	missense variant	-	NC_000002.12:g.222202129A>G	gnomAD
PAX3	P23760	p.Leu412Phe	rs1042053	missense variant	-	NC_000002.12:g.222202130G>A	ExAC,gnomAD
PAX3	P23760	p.Leu415Pro	rs1449149146	missense variant	-	NC_000002.12:g.222202120A>G	gnomAD
PAX3	P23760	p.Leu415Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222202121G>C	NCI-TCGA
PAX3	P23760	p.Thr416Ala	rs930688047	missense variant	-	NC_000002.12:g.222202118T>C	TOPMed
PAX3	P23760	p.Thr416Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222202117G>A	NCI-TCGA
PAX3	P23760	p.Gly417Arg	rs528350431	missense variant	-	NC_000002.12:g.222202115C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Gly417Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222202114C>G	NCI-TCGA
PAX3	P23760	p.Gly417Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222202114C>T	NCI-TCGA
PAX3	P23760	p.Gly418Ser	rs1452539825	missense variant	-	NC_000002.12:g.222202112C>T	gnomAD
PAX3	P23760	p.Glu420Gly	rs1335199183	missense variant	-	NC_000002.12:g.222202105T>C	gnomAD
PAX3	P23760	p.Pro421His	rs1268562297	missense variant	-	NC_000002.12:g.222202102G>T	TOPMed
PAX3	P23760	p.Thr422Ser	rs1455880718	missense variant	-	NC_000002.12:g.222202099G>C	gnomAD
PAX3	P23760	p.Thr422Ile	rs1455880718	missense variant	-	NC_000002.12:g.222202099G>A	gnomAD
PAX3	P23760	p.Thr424Met	rs770087251	missense variant	-	NC_000002.12:g.222202093G>A	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ser426Ter	rs369886550	stop gained	-	NC_000002.12:g.222202087G>T	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ser426Trp	rs369886550	missense variant	-	NC_000002.12:g.222202087G>C	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ser426Leu	rs369886550	missense variant	-	NC_000002.12:g.222202087G>A	ESP,ExAC,TOPMed,gnomAD
PAX3	P23760	p.Ser426Ter	RCV000660223	nonsense	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222202087G>T	ClinVar
PAX3	P23760	p.Ala427Val	rs1415034438	missense variant	-	NC_000002.12:g.222202084G>A	gnomAD
PAX3	P23760	p.Ser430Cys	rs1399603432	missense variant	-	NC_000002.12:g.222202076T>A	TOPMed
PAX3	P23760	p.Gln431Arg	rs1156242341	missense variant	-	NC_000002.12:g.222202072T>C	TOPMed
PAX3	P23760	p.Gln431Glu	rs770885464	missense variant	-	NC_000002.12:g.222202073G>C	ExAC,gnomAD
PAX3	P23760	p.Gln431Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222202073G>T	NCI-TCGA
PAX3	P23760	p.Arg432Lys	rs1016652010	missense variant	-	NC_000002.12:g.222202069C>T	-
PAX3	P23760	p.Met436Val	rs944943242	missense variant	-	NC_000002.12:g.222202058T>C	TOPMed
PAX3	P23760	p.Ser438Thr	rs754795764	missense variant	-	NC_000002.12:g.222202051C>G	ExAC
PAX3	P23760	p.Asp440Asn	rs749014584	missense variant	-	NC_000002.12:g.222202046C>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Leu442Met	rs1444946568	missense variant	-	NC_000002.12:g.222202040G>T	gnomAD
PAX3	P23760	p.Leu442Gln	rs779693694	missense variant	-	NC_000002.12:g.222202039A>T	ExAC,gnomAD
PAX3	P23760	p.Cys449Tyr	COSM3695302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222202018C>T	NCI-TCGA Cosmic
PAX3	P23760	p.Pro450Leu	rs767090833	missense variant	-	NC_000002.12:g.222202015G>A	ExAC,gnomAD
PAX3	P23760	p.Pro451His	rs756696533	missense variant	-	NC_000002.12:g.222202012G>T	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Thr452Ala	rs752127930	missense variant	-	NC_000002.12:g.222202010T>C	ExAC,gnomAD
PAX3	P23760	p.Tyr453His	rs1322674735	missense variant	-	NC_000002.12:g.222202007A>G	gnomAD
PAX3	P23760	p.Ser454Ile	COSM1017001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.222202003C>A	NCI-TCGA Cosmic
PAX3	P23760	p.Thr456Ile	rs889542927	missense variant	-	NC_000002.12:g.222201997G>A	TOPMed
PAX3	P23760	p.Tyr458His	rs763426571	missense variant	-	NC_000002.12:g.222201992A>G	ExAC,gnomAD
PAX3	P23760	p.Ser459Ter	RCV000660224	frameshift	Waardenburg syndrome type 1 (WS1)	NC_000002.12:g.222201989_222201992dup	ClinVar
PAX3	P23760	p.Ser459Arg	rs776059693	missense variant	-	NC_000002.12:g.222201989T>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Met460Val	rs1407284128	missense variant	-	NC_000002.12:g.222201986T>C	gnomAD
PAX3	P23760	p.Met460Thr	rs765696723	missense variant	-	NC_000002.12:g.222201985A>G	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Met460Arg	rs765696723	missense variant	-	NC_000002.12:g.222201985A>C	ExAC,TOPMed,gnomAD
PAX3	P23760	p.Asp461Glu	rs776696114	missense variant	-	NC_000002.12:g.222201981G>T	ExAC,gnomAD
PAX3	P23760	p.Pro462Ala	rs1443972658	missense variant	-	NC_000002.12:g.222201980G>C	gnomAD
PAX3	P23760	p.Thr464LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.222201973G>-	NCI-TCGA
PAX3	P23760	p.Gly465Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222201971C>T	NCI-TCGA
PAX3	P23760	p.Gln470Leu	rs747022299	missense variant	-	NC_000002.12:g.222201955T>A	ExAC,gnomAD
PAX3	P23760	p.Gln470Pro	rs747022299	missense variant	-	NC_000002.12:g.222201955T>G	ExAC,gnomAD
PAX3	P23760	p.Gln470His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222201954C>G	NCI-TCGA
PAX3	P23760	p.Trp477Ter	rs374089919	stop gained	-	NC_000002.12:g.222201933C>T	ESP,TOPMed,gnomAD
PAX3	P23760	p.Trp477Gly	rs774274104	missense variant	-	NC_000002.12:g.222201935A>C	ExAC,gnomAD
PAX3	P23760	p.Trp477Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.222201934C>A	NCI-TCGA
PAX3	P23760	p.Ter480Tyr	rs749209813	stop lost	-	NC_000002.12:g.222201924C>A	ExAC,gnomAD
EDNRB	P24530	p.Gln2Arg	rs1468720481	missense variant	-	NC_000013.11:g.77918569T>C	gnomAD
EDNRB	P24530	p.Gln2His	rs1406054889	missense variant	-	NC_000013.11:g.77918568C>A	gnomAD
EDNRB	P24530	p.Pro3Leu	rs200047993	missense variant	-	NC_000013.11:g.77918566G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro4Ala	rs777992864	missense variant	-	NC_000013.11:g.77918564G>C	ExAC,gnomAD
EDNRB	P24530	p.Pro5Thr	rs12720160	missense variant	-	NC_000013.11:g.77918561G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu7Gln	rs5345	missense variant	-	NC_000013.11:g.77918554A>T	-
EDNRB	P24530	p.Leu7Gln	rs5345	missense variant	-	NC_000013.11:g.77918554A>T	UniProt,dbSNP
EDNRB	P24530	p.Leu7Gln	VAR_014675	missense variant	-	NC_000013.11:g.77918554A>T	UniProt
EDNRB	P24530	p.Leu7Met	rs1239813325	missense variant	-	NC_000013.11:g.77918555G>T	gnomAD
EDNRB	P24530	p.Cys8Gly	rs765870134	missense variant	-	NC_000013.11:g.77918552A>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg10Cys	rs1204381719	missense variant	-	NC_000013.11:g.77918546G>A	gnomAD
EDNRB	P24530	p.Ala11Val	rs754162462	missense variant	-	NC_000013.11:g.77918542G>A	ExAC,gnomAD
EDNRB	P24530	p.Ala14Gly	rs548023225	missense variant	-	NC_000013.11:g.77918533G>C	1000Genomes,TOPMed
EDNRB	P24530	p.Ala14Val	rs548023225	missense variant	-	NC_000013.11:g.77918533G>A	1000Genomes,TOPMed
EDNRB	P24530	p.Val16Phe	rs142767792	missense variant	-	NC_000013.11:g.77918528C>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val16Leu	rs142767792	missense variant	-	NC_000013.11:g.77918528C>G	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu17Phe	rs5346	missense variant	-	NC_000013.11:g.77918525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu17Phe	rs5346	missense variant	-	NC_000013.11:g.77918525G>A	UniProt,dbSNP
EDNRB	P24530	p.Leu17Phe	VAR_014676	missense variant	-	NC_000013.11:g.77918525G>A	UniProt
EDNRB	P24530	p.Leu17Phe	RCV000404231	missense variant	Waardenburg syndrome	NC_000013.11:g.77918525G>A	ClinVar
EDNRB	P24530	p.Leu17Phe	RCV000297140	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77918525G>A	ClinVar
EDNRB	P24530	p.Leu17Pro	VAR_078312	Missense	-	-	UniProt
EDNRB	P24530	p.Gly20Ser	rs762469442	missense variant	-	NC_000013.11:g.77918516C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser22Ala	rs1382140942	missense variant	-	NC_000013.11:g.77918510A>C	gnomAD
EDNRB	P24530	p.Arg23Trp	rs769618877	missense variant	-	NC_000013.11:g.77918507G>A	ExAC,gnomAD
EDNRB	P24530	p.Gly26Arg	rs1235599209	missense variant	-	NC_000013.11:g.77918498C>T	gnomAD
EDNRB	P24530	p.Gly30Asp	rs551739242	missense variant	-	NC_000013.11:g.77918485C>T	1000Genomes,ExAC,gnomAD
EDNRB	P24530	p.Pro32Ser	rs200723251	missense variant	-	NC_000013.11:g.77918480G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asp34Glu	rs149740482	missense variant	-	NC_000013.11:g.77918472G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg35Thr	rs1259767883	missense variant	-	NC_000013.11:g.77918470C>G	gnomAD
EDNRB	P24530	p.Ala36Ser	rs1354646550	missense variant	-	NC_000013.11:g.77918468C>A	gnomAD
EDNRB	P24530	p.Ala36Asp	rs752856831	missense variant	-	NC_000013.11:g.77918467G>T	ExAC
EDNRB	P24530	p.Thr37Ile	rs1288505904	missense variant	-	NC_000013.11:g.77918464G>A	gnomAD
EDNRB	P24530	p.Pro38Leu	rs779495524	missense variant	-	NC_000013.11:g.77918461G>A	ExAC,gnomAD
EDNRB	P24530	p.Ala43Ser	rs200304077	missense variant	-	NC_000013.11:g.77918447C>A	gnomAD
EDNRB	P24530	p.Glu44Val	rs755457512	missense variant	-	NC_000013.11:g.77918443T>A	ExAC
EDNRB	P24530	p.Glu44Asp	rs1401360436	missense variant	-	NC_000013.11:g.77918442C>A	TOPMed
EDNRB	P24530	p.Ile45Thr	rs990292887	missense variant	-	NC_000013.11:g.77918440A>G	TOPMed
EDNRB	P24530	p.Thr47Lys	rs1316261633	missense variant	-	NC_000013.11:g.77918434G>T	gnomAD
EDNRB	P24530	p.Pro48Leu	rs538237989	missense variant	-	NC_000013.11:g.77918431G>A	1000Genomes,TOPMed
EDNRB	P24530	p.Thr52Ile	rs139997339	missense variant	-	NC_000013.11:g.77918419G>A	ESP,TOPMed
EDNRB	P24530	p.Leu53Ser	rs766651046	missense variant	-	NC_000013.11:g.77918416A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Trp54Arg	rs1362059171	missense variant	-	NC_000013.11:g.77918414A>G	gnomAD
EDNRB	P24530	p.Pro55Arg	rs751161032	missense variant	-	NC_000013.11:g.77918410G>C	ExAC,gnomAD
EDNRB	P24530	p.Lys56Thr	rs763764641	missense variant	-	NC_000013.11:g.77918407T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly57Ser	rs1801710	missense variant	-	NC_000013.11:g.77918405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly57Ser	RCV000018117	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77918405C>T	ClinVar
EDNRB	P24530	p.Ala60Thr	rs142569954	missense variant	-	NC_000013.11:g.77918396C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala60Pro	rs142569954	missense variant	-	NC_000013.11:g.77918396C>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Pro	rs201002254	missense variant	-	NC_000013.11:g.77918383C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Trp	rs139147111	missense variant	-	NC_000013.11:g.77918384G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Gly	rs139147111	missense variant	-	NC_000013.11:g.77918384G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Leu	rs201002254	missense variant	-	NC_000013.11:g.77918383C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro68Leu	rs201737510	missense variant	-	NC_000013.11:g.77918371G>A	TOPMed
EDNRB	P24530	p.Pro68Leu	RCV000606747	missense variant	-	NC_000013.11:g.77918371G>A	ClinVar
EDNRB	P24530	p.Ala69Val	rs1019947807	missense variant	-	NC_000013.11:g.77918368G>A	TOPMed
EDNRB	P24530	p.Glu70Lys	rs748181676	missense variant	-	NC_000013.11:g.77918366C>T	ExAC,gnomAD
EDNRB	P24530	p.Val71Ter	RCV000627620	frameshift	-	NC_000013.11:g.77918355_77918367del	ClinVar
EDNRB	P24530	p.Pro72Ser	rs150750272	missense variant	-	NC_000013.11:g.77918360G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys73Glu	rs201488838	missense variant	-	NC_000013.11:g.77918357T>C	1000Genomes
EDNRB	P24530	p.Asp75Asn	rs1230438816	missense variant	-	NC_000013.11:g.77918351C>T	gnomAD
EDNRB	P24530	p.Arg76Gly	rs201207916	missense variant	-	NC_000013.11:g.77918348T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg76Trp	rs201207916	missense variant	-	NC_000013.11:g.77918348T>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg76Met	rs2228271	missense variant	-	NC_000013.11:g.77918347C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr77Met	rs1227502849	missense variant	-	NC_000013.11:g.77918344G>A	TOPMed,gnomAD
EDNRB	P24530	p.Thr77Arg	rs1227502849	missense variant	-	NC_000013.11:g.77918344G>C	TOPMed,gnomAD
EDNRB	P24530	p.Gly79Ala	rs1280900661	missense variant	-	NC_000013.11:g.77918338C>G	TOPMed,gnomAD
EDNRB	P24530	p.Gly79Glu	rs1280900661	missense variant	-	NC_000013.11:g.77918338C>T	TOPMed,gnomAD
EDNRB	P24530	p.Ser80Phe	rs1403988440	missense variant	-	NC_000013.11:g.77918335G>A	gnomAD
EDNRB	P24530	p.Pro81Leu	rs756427784	missense variant	-	NC_000013.11:g.77918332G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg83Cys	rs771230818	missense variant	-	NC_000013.11:g.77918327G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr84Ile	rs752412963	missense variant	-	NC_000013.11:g.77918323G>A	ExAC,gnomAD
EDNRB	P24530	p.Thr84Asn	rs752412963	missense variant	-	NC_000013.11:g.77918323G>T	ExAC,gnomAD
EDNRB	P24530	p.Pro87Ser	rs759133540	missense variant	-	NC_000013.11:g.77918315G>A	ExAC,gnomAD
EDNRB	P24530	p.Pro87His	rs1425908419	missense variant	-	NC_000013.11:g.77918314G>T	gnomAD
EDNRB	P24530	p.Pro88Leu	rs200756568	missense variant	-	NC_000013.11:g.77918311G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro88Ala	rs1410175049	missense variant	-	NC_000013.11:g.77918312G>C	TOPMed,gnomAD
EDNRB	P24530	p.Pro89Arg	rs1028136288	missense variant	-	NC_000013.11:g.77918308G>C	TOPMed,gnomAD
EDNRB	P24530	p.Gly92Glu	rs148189360	missense variant	-	NC_000013.11:g.77918299C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile94Ser	rs1235006032	missense variant	-	NC_000013.11:g.77918293A>C	TOPMed
EDNRB	P24530	p.Ile94Val	rs772055405	missense variant	-	NC_000013.11:g.77918294T>C	ExAC,gnomAD
EDNRB	P24530	p.Glu95Val	rs774676772	missense variant	-	NC_000013.11:g.77918290T>A	ExAC,gnomAD
EDNRB	P24530	p.Glu95Gln	rs1282405488	missense variant	-	NC_000013.11:g.77918291C>G	TOPMed
EDNRB	P24530	p.Lys97Glu	rs1280780830	missense variant	-	NC_000013.11:g.77918285T>C	gnomAD
EDNRB	P24530	p.Thr99Pro	rs768598369	missense variant	-	NC_000013.11:g.77918279T>G	ExAC,gnomAD
EDNRB	P24530	p.Tyr102Ter	rs1064797178	stop gained	-	NC_000013.11:g.77918268G>T	gnomAD
EDNRB	P24530	p.Tyr102Ter	RCV000657773	nonsense	-	NC_000013.11:g.77918268G>T	ClinVar
EDNRB	P24530	p.Ile103Val	rs894919134	missense variant	-	NC_000013.11:g.77918267T>C	TOPMed
EDNRB	P24530	p.Asn104Ile	rs780355308	missense variant	-	NC_000013.11:g.77918263T>A	ExAC,gnomAD
EDNRB	P24530	p.Asn104Ser	rs780355308	missense variant	-	NC_000013.11:g.77918263T>C	ExAC,gnomAD
EDNRB	P24530	p.Thr105Met	rs368400131	missense variant	-	NC_000013.11:g.77918260G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys109Ter	RCV000778401	frameshift	EDNRB-Related Disorders	NC_000013.11:g.77918248del	ClinVar
EDNRB	P24530	p.Leu110Val	rs1180581930	missense variant	-	NC_000013.11:g.77918246G>C	TOPMed
EDNRB	P24530	p.Val111Glu	rs1467139505	missense variant	-	NC_000013.11:g.77918242A>T	gnomAD
EDNRB	P24530	p.Phe112Val	rs5347	missense variant	-	NC_000013.11:g.77918240A>C	UniProt,dbSNP
EDNRB	P24530	p.Phe112Val	VAR_014677	missense variant	-	NC_000013.11:g.77918240A>C	UniProt
EDNRB	P24530	p.Phe112Val	rs5347	missense variant	-	NC_000013.11:g.77918240A>C	-
EDNRB	P24530	p.Val113Met	rs781532939	missense variant	-	NC_000013.11:g.77918237C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val113Leu	rs781532939	missense variant	-	NC_000013.11:g.77918237C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu114Pro	rs752268531	missense variant	-	NC_000013.11:g.77918233A>G	ExAC,gnomAD
EDNRB	P24530	p.Gly115Glu	RCV000521877	missense variant	-	NC_000013.11:g.77918230C>T	ClinVar
EDNRB	P24530	p.Gly115Glu	rs1555291991	missense variant	-	NC_000013.11:g.77918230C>T	-
EDNRB	P24530	p.Ile116Thr	rs559289370	missense variant	-	NC_000013.11:g.77918227A>G	1000Genomes
EDNRB	P24530	p.Ile117Leu	rs1439177895	missense variant	-	NC_000013.11:g.77918225T>G	TOPMed
EDNRB	P24530	p.Arg124Lys	rs541269180	missense variant	-	NC_000013.11:g.77918203C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn129Lys	rs374619256	missense variant	-	NC_000013.11:g.77918187G>T	ESP,TOPMed
EDNRB	P24530	p.Lys130Thr	rs753395287	missense variant	-	NC_000013.11:g.77918185T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys131Arg	rs1261885036	missense variant	-	NC_000013.11:g.77918183A>G	gnomAD
EDNRB	P24530	p.Asn134Ile	rs1396733251	missense variant	-	NC_000013.11:g.77918173T>A	TOPMed
EDNRB	P24530	p.Gly135Ser	rs760677132	missense variant	-	NC_000013.11:g.77918171C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn137Tyr	VAR_078313	Missense	-	-	UniProt
EDNRB	P24530	p.Ile138Val	rs1221743247	missense variant	-	NC_000013.11:g.77918162T>C	gnomAD
EDNRB	P24530	p.Leu139Phe	rs371558629	missense variant	-	NC_000013.11:g.77918157C>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu139Val	rs143042375	missense variant	-	NC_000013.11:g.77918159A>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu139Phe	rs371558629	missense variant	-	NC_000013.11:g.77918157C>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile140Met	rs1046390473	missense variant	-	NC_000013.11:g.77918154G>C	TOPMed
EDNRB	P24530	p.Ala141Thr	rs762880632	missense variant	-	NC_000013.11:g.77918153C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala141Ser	rs762880632	missense variant	-	NC_000013.11:g.77918153C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly146Ala	rs1336072126	missense variant	-	NC_000013.11:g.77918137C>G	gnomAD
EDNRB	P24530	p.His150Leu	rs1399198786	missense variant	-	NC_000013.11:g.77918125T>A	gnomAD
EDNRB	P24530	p.Ile151Val	rs769924328	missense variant	-	NC_000013.11:g.77918123T>C	ExAC,gnomAD
EDNRB	P24530	p.Ile153Thr	rs1159624775	missense variant	-	NC_000013.11:g.77918116A>G	gnomAD
EDNRB	P24530	p.Asp154Gly	rs746343092	missense variant	-	NC_000013.11:g.77918113T>C	ExAC,gnomAD
EDNRB	P24530	p.Pro156Arg	VAR_078314	Missense	-	-	UniProt
EDNRB	P24530	p.Ile157Val	rs368159798	missense variant	-	NC_000013.11:g.77918105T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly170Arg	rs1339942721	missense variant	-	NC_000013.11:g.77903583C>T	gnomAD
EDNRB	P24530	p.Glu172Gln	rs1402105082	missense variant	-	NC_000013.11:g.77903577C>G	gnomAD
EDNRB	P24530	p.Glu172Asp	rs772385532	missense variant	-	NC_000013.11:g.77903575C>G	ExAC,gnomAD
EDNRB	P24530	p.Glu172Ala	rs778187586	missense variant	-	NC_000013.11:g.77903576T>G	ExAC,gnomAD
EDNRB	P24530	p.Cys174Ter	RCV000659494	frameshift	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903570del	ClinVar
EDNRB	P24530	p.Leu176Val	rs143312578	missense variant	-	NC_000013.11:g.77903565G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val177Leu	rs1168969805	missense variant	-	NC_000013.11:g.77903562C>A	gnomAD
EDNRB	P24530	p.Pro178Thr	rs201311945	missense variant	-	NC_000013.11:g.77903559G>T	ExAC,gnomAD
EDNRB	P24530	p.Ile180Met	rs759131722	missense variant	-	NC_000013.11:g.77903551T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile180Leu	rs1423762419	missense variant	-	NC_000013.11:g.77903553T>G	gnomAD
EDNRB	P24530	p.Gln181Glu	rs1479241351	missense variant	-	NC_000013.11:g.77903550G>C	gnomAD
EDNRB	P24530	p.Ala183Gly	rs104894388	missense variant	-	NC_000013.11:g.77903543G>C	-
EDNRB	P24530	p.Ala183Gly	rs104894388	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt,dbSNP
EDNRB	P24530	p.Ala183Gly	VAR_003470	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt
EDNRB	P24530	p.Ala183Gly	RCV000018114	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903543G>C	ClinVar
EDNRB	P24530	p.Ser184Pro	rs1555290659	missense variant	-	NC_000013.11:g.77903541A>G	-
EDNRB	P24530	p.Ser184Pro	RCV000659495	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903541A>G	ClinVar
EDNRB	P24530	p.Val185Met	rs781214034	missense variant	-	NC_000013.11:g.77903538C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val185Met	RCV000758016	missense variant	Total intestinal aganglionosis	NC_000013.11:g.77903538C>T	ClinVar
EDNRB	P24530	p.Ser191Cys	rs1013425803	missense variant	-	NC_000013.11:g.77903520T>A	TOPMed,gnomAD
EDNRB	P24530	p.Ala194Val	rs751513574	missense variant	-	NC_000013.11:g.77903510G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg199Gly	rs1258768009	missense variant	-	NC_000013.11:g.77903496T>C	gnomAD
EDNRB	P24530	p.Arg201Pro	rs780841273	missense variant	-	NC_000013.11:g.77903355C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Gln	rs780841273	missense variant	-	NC_000013.11:g.77903355C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Ter	RCV000659496	nonsense	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903356G>A	ClinVar
EDNRB	P24530	p.Arg201Ter	rs104894391	stop gained	Abcd syndrome (abcds)	NC_000013.11:g.77903356G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Ter	RCV000018120	nonsense	ABCD syndrome (ABCDS)	NC_000013.11:g.77903356G>A	ClinVar
EDNRB	P24530	p.Ala202Val	rs1354645639	missense variant	-	NC_000013.11:g.77903352G>A	TOPMed
EDNRB	P24530	p.Val203Phe	rs202068468	missense variant	-	NC_000013.11:g.77903350C>A	ExAC,gnomAD
EDNRB	P24530	p.Val203Ile	rs202068468	missense variant	-	NC_000013.11:g.77903350C>T	ExAC,gnomAD
EDNRB	P24530	p.Val203Leu	rs202068468	missense variant	-	NC_000013.11:g.77903350C>G	ExAC,gnomAD
EDNRB	P24530	p.Trp206Ter	rs876657688	stop gained	-	NC_000013.11:g.77903339C>T	gnomAD
EDNRB	P24530	p.Trp206Ter	RCV000221133	nonsense	Rare genetic deafness	NC_000013.11:g.77903339C>T	ClinVar
EDNRB	P24530	p.Trp206Arg	rs1410186437	missense variant	-	NC_000013.11:g.77903341A>G	TOPMed
EDNRB	P24530	p.Ser207Asn	rs746941725	missense variant	-	NC_000013.11:g.77903337C>T	ExAC,gnomAD
EDNRB	P24530	p.Arg208Lys	rs1361744218	missense variant	-	NC_000013.11:g.77903334C>T	gnomAD
EDNRB	P24530	p.Gly211Arg	rs932422479	missense variant	-	NC_000013.11:g.77903326C>T	TOPMed
EDNRB	P24530	p.Gly211Val	rs752251497	missense variant	-	NC_000013.11:g.77903325C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile212Thr	rs1382035452	missense variant	-	NC_000013.11:g.77903322A>G	TOPMed,gnomAD
EDNRB	P24530	p.Val214Ile	rs1440733865	missense variant	-	NC_000013.11:g.77903317C>T	gnomAD
EDNRB	P24530	p.Trp217Leu	rs1255586825	missense variant	-	NC_000013.11:g.77903307C>A	TOPMed,gnomAD
EDNRB	P24530	p.Thr218Ile	rs1201160161	missense variant	-	NC_000013.11:g.77903304G>A	gnomAD
EDNRB	P24530	p.Leu224Ser	rs754126689	missense variant	-	NC_000013.11:g.77903286A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile225Thr	rs766452784	missense variant	-	NC_000013.11:g.77903283A>G	ExAC,gnomAD
EDNRB	P24530	p.Trp226_Ser442del	VAR_078315	inframe_deletion	-	-	UniProt
EDNRB	P24530	p.Val227Met	rs1312043256	missense variant	-	NC_000013.11:g.77903278C>T	TOPMed,gnomAD
EDNRB	P24530	p.Val228Ala	rs1334210764	missense variant	-	NC_000013.11:g.77903274A>G	gnomAD
EDNRB	P24530	p.Val228Phe	rs1340452566	missense variant	-	NC_000013.11:g.77903275C>A	gnomAD
EDNRB	P24530	p.Ala233Gly	rs1397335747	missense variant	-	NC_000013.11:g.77903259G>C	gnomAD
EDNRB	P24530	p.Ile238Thr	rs1420013932	missense variant	-	NC_000013.11:g.77903244A>G	gnomAD
EDNRB	P24530	p.Ile238Val	rs767943900	missense variant	-	NC_000013.11:g.77903245T>C	ExAC,gnomAD
EDNRB	P24530	p.Gly239Arg	rs973740703	missense variant	-	NC_000013.11:g.77903242C>G	TOPMed,gnomAD
EDNRB	P24530	p.Gly239Ser	rs973740703	missense variant	-	NC_000013.11:g.77903242C>T	TOPMed,gnomAD
EDNRB	P24530	p.Asp241Asn	rs762204581	missense variant	-	NC_000013.11:g.77903236C>T	ExAC,gnomAD
EDNRB	P24530	p.Asp241Ala	rs201625400	missense variant	-	NC_000013.11:g.77903235T>G	ExAC,gnomAD
EDNRB	P24530	p.Thr244Met	rs5350	missense variant	-	NC_000013.11:g.77903226G>A	UniProt,dbSNP
EDNRB	P24530	p.Thr244Met	VAR_014678	missense variant	-	NC_000013.11:g.77903226G>A	UniProt
EDNRB	P24530	p.Thr244Met	rs5350	missense variant	-	NC_000013.11:g.77903226G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr244Met	RCV000325008	missense variant	Waardenburg syndrome	NC_000013.11:g.77903226G>A	ClinVar
EDNRB	P24530	p.Thr244Met	RCV000381908	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77903226G>A	ClinVar
EDNRB	P24530	p.Met245Lys	rs1216200131	missense variant	-	NC_000013.11:g.77903223A>T	TOPMed,gnomAD
EDNRB	P24530	p.Met245Thr	rs1216200131	missense variant	-	NC_000013.11:g.77903223A>G	TOPMed,gnomAD
EDNRB	P24530	p.Met245Ile	rs776468186	missense variant	-	NC_000013.11:g.77903222C>T	ExAC,gnomAD
EDNRB	P24530	p.Asp246Asn	rs1288566827	missense variant	-	NC_000013.11:g.77903221C>T	gnomAD
EDNRB	P24530	p.Asp246Gly	rs371218105	missense variant	-	NC_000013.11:g.77903220T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr247Cys	rs200272603	missense variant	-	NC_000013.11:g.77903217T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys248Thr	rs777697952	missense variant	-	NC_000013.11:g.77903214T>G	ExAC,gnomAD
EDNRB	P24530	p.Lys248Asn	rs758280131	missense variant	-	NC_000013.11:g.77903213T>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly249Arg	rs748143676	missense variant	-	NC_000013.11:g.77903212C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser250Gly	rs199521140	missense variant	-	NC_000013.11:g.77903209T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser250Ile	rs754807912	missense variant	-	NC_000013.11:g.77903208C>A	ExAC,gnomAD
EDNRB	P24530	p.Leu252Pro	rs754040927	missense variant	-	NC_000013.11:g.77903202A>G	ExAC,gnomAD
EDNRB	P24530	p.Arg253Gln	rs140514830	missense variant	-	NC_000013.11:g.77903199C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg253Ter	rs104894390	stop gained	-	NC_000013.11:g.77903200G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg253Ter	RCV000018119	nonsense	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903200G>A	ClinVar
EDNRB	P24530	p.Arg253Gln	RCV000603036	missense variant	-	NC_000013.11:g.77903199C>T	ClinVar
EDNRB	P24530	p.Ile254Thr	rs371057149	missense variant	-	NC_000013.11:g.77903196A>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile254Asn	rs371057149	missense variant	-	NC_000013.11:g.77903196A>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile254Leu	rs750477425	missense variant	-	NC_000013.11:g.77903197T>G	ExAC,gnomAD
EDNRB	P24530	p.His258Gln	rs752147666	missense variant	-	NC_000013.11:g.77903183A>T	ExAC,gnomAD
EDNRB	P24530	p.His258Asp	rs368940609	missense variant	-	NC_000013.11:g.77903185G>C	ESP,ExAC,gnomAD
EDNRB	P24530	p.His258Tyr	rs368940609	missense variant	-	NC_000013.11:g.77903185G>A	ESP,ExAC,gnomAD
EDNRB	P24530	p.Pro259Arg	rs1265700652	missense variant	-	NC_000013.11:g.77903181G>C	gnomAD
EDNRB	P24530	p.Pro259Ser	rs200431358	missense variant	-	NC_000013.11:g.77903182G>A	ExAC,gnomAD
EDNRB	P24530	p.Val260Ile	rs77132068	missense variant	-	NC_000013.11:g.77903179C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val260Phe	rs77132068	missense variant	-	NC_000013.11:g.77903179C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val260Ile	RCV000839975	missense variant	-	NC_000013.11:g.77903179C>T	ClinVar
EDNRB	P24530	p.Val260Gly	rs1220991715	missense variant	-	NC_000013.11:g.77903178A>C	TOPMed
EDNRB	P24530	p.Val260Ile	RCV000614742	missense variant	-	NC_000013.11:g.77903179C>T	ClinVar
EDNRB	P24530	p.Thr263Ala	rs1347740196	missense variant	-	NC_000013.11:g.77903170T>C	TOPMed
EDNRB	P24530	p.Ala264Val	rs1212186974	missense variant	-	NC_000013.11:g.77903166G>A	TOPMed,gnomAD
EDNRB	P24530	p.Ala264Val	RCV000660537	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903166G>A	ClinVar
EDNRB	P24530	p.Phe268Leu	rs1332382690	missense variant	-	NC_000013.11:g.77901207A>G	gnomAD
EDNRB	P24530	p.Lys270Gln	rs771549175	missense variant	-	NC_000013.11:g.77901201T>G	ExAC,gnomAD
EDNRB	P24530	p.Thr271Ala	rs1485754365	missense variant	-	NC_000013.11:g.77901198T>C	TOPMed
EDNRB	P24530	p.Asp274Asn	rs199937989	missense variant	-	NC_000013.11:g.77901189C>T	ExAC,gnomAD
EDNRB	P24530	p.Asp274Gly	rs142295388	missense variant	-	NC_000013.11:g.77901188T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asp274Tyr	rs199937989	missense variant	-	NC_000013.11:g.77901189C>A	ExAC,gnomAD
EDNRB	P24530	p.Asp274Val	rs142295388	missense variant	-	NC_000013.11:g.77901188T>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Trp275Ser	rs104894389	missense variant	-	NC_000013.11:g.77901185C>G	ExAC,gnomAD
EDNRB	P24530	p.Trp275Gly	rs1422704119	missense variant	-	NC_000013.11:g.77901186A>C	TOPMed
EDNRB	P24530	p.Trp275Ter	rs104894389	stop gained	-	NC_000013.11:g.77901185C>T	ExAC,gnomAD
EDNRB	P24530	p.Trp275Ter	RCV000018115	nonsense	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901185C>T	ClinVar
EDNRB	P24530	p.Trp276Cys	rs104894387	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt,dbSNP
EDNRB	P24530	p.Trp276Cys	VAR_003471	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt
EDNRB	P24530	p.Trp276Cys	rs104894387	missense variant	-	NC_000013.11:g.77901181C>A	ESP,TOPMed,gnomAD
EDNRB	P24530	p.Trp276Cys	RCV000018112	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	ClinVar
EDNRB	P24530	p.Ser279Asn	rs746051328	missense variant	-	NC_000013.11:g.77901173C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser279Thr	rs746051328	missense variant	-	NC_000013.11:g.77901173C>G	ExAC,gnomAD
EDNRB	P24530	p.Phe291Leu	rs1280369607	missense variant	-	NC_000013.11:g.77901138A>G	gnomAD
EDNRB	P24530	p.Phe292Leu	VAR_015294	Missense	Waardenburg syndrome 4A (WS4A) [MIM:277580]	-	UniProt
EDNRB	P24530	p.Tyr293His	rs1352720092	missense variant	-	NC_000013.11:g.77901132A>G	gnomAD
EDNRB	P24530	p.Tyr293Ter	rs1064797177	stop gained	-	NC_000013.11:g.77901131dup	-
EDNRB	P24530	p.Tyr293Ter	RCV000487897	nonsense	-	NC_000013.11:g.77901131dup	ClinVar
EDNRB	P24530	p.Tyr293Ter	RCV000018116	frameshift	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901138dup	ClinVar
EDNRB	P24530	p.Thr294Ter	RCV000513371	frameshift	-	NC_000013.11:g.77901130dup	ClinVar
EDNRB	P24530	p.Thr294Ile	rs758958773	missense variant	-	NC_000013.11:g.77901128G>A	ExAC,gnomAD
EDNRB	P24530	p.Met296Leu	rs765490586	missense variant	-	NC_000013.11:g.77901123T>A	ExAC
EDNRB	P24530	p.Leu301Ser	rs112067501	missense variant	-	NC_000013.11:g.77901107A>G	gnomAD
EDNRB	P24530	p.Leu301Ter	rs112067501	stop gained	-	NC_000013.11:g.77901107A>T	gnomAD
EDNRB	P24530	p.Arg302Lys	rs1415699054	missense variant	-	NC_000013.11:g.77901104C>T	TOPMed
EDNRB	P24530	p.Lys303Arg	rs1336420198	missense variant	-	NC_000013.11:g.77901101T>C	gnomAD
EDNRB	P24530	p.Lys304Ile	rs376098154	missense variant	-	NC_000013.11:g.77901098T>A	ESP,ExAC,gnomAD
EDNRB	P24530	p.Lys304Asn	rs749996130	missense variant	-	NC_000013.11:g.77901097T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser305Asn	rs5352	missense variant	-	NC_000013.11:g.77901095C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser305Asn	rs5352	missense variant	-	NC_000013.11:g.77901095C>T	UniProt,dbSNP
EDNRB	P24530	p.Ser305Asn	VAR_003472	missense variant	-	NC_000013.11:g.77901095C>T	UniProt
EDNRB	P24530	p.Ser305Asn	RCV000018118	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901095C>T	ClinVar
EDNRB	P24530	p.Gln308Lys	rs199558894	missense variant	-	NC_000013.11:g.77901087G>T	ExAC,gnomAD
EDNRB	P24530	p.Ala310Thr	rs944500117	missense variant	-	NC_000013.11:g.77901081C>T	TOPMed
EDNRB	P24530	p.Asp313Asn	rs907722017	missense variant	-	NC_000013.11:g.77901072C>T	TOPMed
EDNRB	P24530	p.Asp313Tyr	rs907722017	missense variant	-	NC_000013.11:g.77901072C>A	TOPMed
EDNRB	P24530	p.Lys316Arg	rs1238777762	missense variant	-	NC_000013.11:g.77901062T>C	gnomAD
EDNRB	P24530	p.Arg319Gln	rs759543922	missense variant	-	NC_000013.11:g.77900650C>T	ExAC,gnomAD
EDNRB	P24530	p.Arg319Leu	rs759543922	missense variant	-	NC_000013.11:g.77900650C>A	ExAC,gnomAD
EDNRB	P24530	p.Arg319Trp	rs200363611	missense variant	-	NC_000013.11:g.77900651G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala322Val	rs1233747891	missense variant	-	NC_000013.11:g.77900641G>A	gnomAD
EDNRB	P24530	p.Val325Ile	rs201437745	missense variant	-	NC_000013.11:g.77900633C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val325Ile	RCV000659498	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77900633C>T	ClinVar
EDNRB	P24530	p.Leu328Met	rs1216944717	missense variant	-	NC_000013.11:g.77900624G>T	gnomAD
EDNRB	P24530	p.Val331Leu	rs1340103087	missense variant	-	NC_000013.11:g.77900615C>G	gnomAD
EDNRB	P24530	p.Ala333Val	rs1279092107	missense variant	-	NC_000013.11:g.77900608G>A	gnomAD
EDNRB	P24530	p.Pro338Leu	RCV000758015	missense variant	Total intestinal aganglionosis	NC_000013.11:g.77900593G>A	ClinVar
EDNRB	P24530	p.Lys346Arg	rs1162021124	missense variant	-	NC_000013.11:g.77900569T>C	TOPMed
EDNRB	P24530	p.Thr348Ser	rs776554067	missense variant	-	NC_000013.11:g.77900564T>A	ExAC,gnomAD
EDNRB	P24530	p.Leu349Phe	rs1293406077	missense variant	-	NC_000013.11:g.77900561G>A	gnomAD
EDNRB	P24530	p.Asn351Lys	rs1437781516	missense variant	-	NC_000013.11:g.77900553A>T	gnomAD
EDNRB	P24530	p.Asn351Asp	rs1335692950	missense variant	-	NC_000013.11:g.77900555T>C	gnomAD
EDNRB	P24530	p.Gln352Arg	rs1397373759	missense variant	-	NC_000013.11:g.77900551T>C	TOPMed,gnomAD
EDNRB	P24530	p.Asn353Lys	rs1167913825	missense variant	-	NC_000013.11:g.77900547A>C	gnomAD
EDNRB	P24530	p.Leu360His	rs1295402804	missense variant	-	NC_000013.11:g.77900527A>T	gnomAD
EDNRB	P24530	p.Ser362Arg	rs369090616	missense variant	-	NC_000013.11:g.77900522T>G	TOPMed,gnomAD
EDNRB	P24530	p.Leu364Val	rs180686892	missense variant	-	NC_000013.11:g.77899963G>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu364Met	rs180686892	missense variant	-	NC_000013.11:g.77899963G>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr369Phe	rs202171748	missense variant	-	NC_000013.11:g.77899947T>A	TOPMed
EDNRB	P24530	p.Ile370Thr	rs1455429720	missense variant	-	NC_000013.11:g.77899944A>G	gnomAD
EDNRB	P24530	p.Gly371Cys	rs202153354	missense variant	-	NC_000013.11:g.77899942C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly371Ser	rs202153354	missense variant	-	NC_000013.11:g.77899942C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Met374Ile	VAR_003474	Missense	Hirschsprung disease 2 (HSCR2) [MIM:600155]	-	UniProt
EDNRB	P24530	p.Leu377Val	rs1177969210	missense variant	-	NC_000013.11:g.77899924G>C	gnomAD
EDNRB	P24530	p.Cys380Ser	rs200939685	missense variant	-	NC_000013.11:g.77899914C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys380Ser	RCV000260247	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77899914C>G	ClinVar
EDNRB	P24530	p.Cys380Ser	RCV000299186	missense variant	Waardenburg syndrome	NC_000013.11:g.77899914C>G	ClinVar
EDNRB	P24530	p.Ile381Val	rs1197671529	missense variant	-	NC_000013.11:g.77899912T>C	gnomAD
EDNRB	P24530	p.Pro383Leu	VAR_003475	Missense	Hirschsprung disease 2 (HSCR2) [MIM:600155]	-	UniProt
EDNRB	P24530	p.Ile384Val	rs567578805	missense variant	-	NC_000013.11:g.77899903T>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys391Gln	rs1466632176	missense variant	-	NC_000013.11:g.77899882T>G	TOPMed
EDNRB	P24530	p.Lys391Arg	rs773530703	missense variant	-	NC_000013.11:g.77899881T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Phe393Leu	rs772345263	missense variant	-	NC_000013.11:g.77899874G>C	ExAC,gnomAD
EDNRB	P24530	p.Phe397Tyr	rs1396007412	missense variant	-	NC_000013.11:g.77899863A>T	TOPMed
EDNRB	P24530	p.Phe397Val	rs1378362046	missense variant	-	NC_000013.11:g.77899864A>C	TOPMed,gnomAD
EDNRB	P24530	p.Ser399Pro	rs750260325	missense variant	-	NC_000013.11:g.77898334A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser399Thr	rs750260325	missense variant	-	NC_000013.11:g.77898334A>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys400Trp	rs1312925422	missense variant	-	NC_000013.11:g.77898329G>C	TOPMed,gnomAD
EDNRB	P24530	p.Leu401Phe	rs1364508724	missense variant	-	NC_000013.11:g.77898326T>G	TOPMed
EDNRB	P24530	p.Trp404Ter	rs767275433	stop gained	-	NC_000013.11:g.77898318C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Phe408Leu	rs1297352198	missense variant	-	NC_000013.11:g.77898307A>G	gnomAD
EDNRB	P24530	p.Ser413Phe	rs1319801057	missense variant	-	NC_000013.11:g.77898291G>A	TOPMed
EDNRB	P24530	p.Ser413Thr	rs762094666	missense variant	-	NC_000013.11:g.77898292A>T	ExAC,gnomAD
EDNRB	P24530	p.Ser419Leu	rs200548885	missense variant	-	NC_000013.11:g.77898273G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys422Glu	rs200720978	missense variant	-	NC_000013.11:g.77898265T>C	ExAC,gnomAD
EDNRB	P24530	p.Lys422Asn	rs1375298638	missense variant	-	NC_000013.11:g.77898263C>G	gnomAD
EDNRB	P24530	p.Lys424Glu	rs1359074336	missense variant	-	NC_000013.11:g.77898259T>C	TOPMed
EDNRB	P24530	p.Ala425Pro	rs771239282	missense variant	-	NC_000013.11:g.77898256C>G	ExAC,gnomAD
EDNRB	P24530	p.Asn426Lys	rs747813758	missense variant	-	NC_000013.11:g.77898251A>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn426Asp	rs1217607090	missense variant	-	NC_000013.11:g.77898253T>C	TOPMed
EDNRB	P24530	p.Asp427Gly	rs778453066	missense variant	-	NC_000013.11:g.77898249T>C	ExAC,gnomAD
EDNRB	P24530	p.His428Gln	rs754498240	missense variant	-	NC_000013.11:g.77898245G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.His428Arg	rs1238508690	missense variant	-	NC_000013.11:g.77898246T>C	TOPMed
EDNRB	P24530	p.His428Tyr	rs1215746671	missense variant	-	NC_000013.11:g.77898247G>A	TOPMed
EDNRB	P24530	p.Gly429Glu	rs1315670514	missense variant	-	NC_000013.11:g.77898243C>T	gnomAD
EDNRB	P24530	p.Gly429Arg	RCV000402655	missense variant	Waardenburg syndrome	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	RCV000310434	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	RCV000220584	missense variant	-	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	rs144565124	missense variant	-	NC_000013.11:g.77898244C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr430His	rs568662694	missense variant	-	NC_000013.11:g.77898241A>G	1000Genomes,ExAC,gnomAD
EDNRB	P24530	p.Arg434Ser	rs750396591	missense variant	-	NC_000013.11:g.77898229G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg434Cys	rs750396591	missense variant	-	NC_000013.11:g.77898229G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg434His	rs201243241	missense variant	-	NC_000013.11:g.77898228C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser435Tyr	rs757021438	missense variant	-	NC_000013.11:g.77898225G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser435Phe	rs757021438	missense variant	-	NC_000013.11:g.77898225G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser436Gly	rs751760790	missense variant	-	NC_000013.11:g.77898223T>C	ExAC,gnomAD
EDNRB	P24530	p.Ser436Thr	rs764302607	missense variant	-	NC_000013.11:g.77898222C>G	ExAC,gnomAD
EDNRB	P24530	p.Ser441Leu	rs762959381	missense variant	-	NC_000013.11:g.77898207G>A	ExAC,gnomAD
EDNRB	P24530	p.Gln2Arg	rs1468720481	missense variant	-	NC_000013.11:g.77918569T>C	gnomAD
EDNRB	P24530	p.Gln2His	rs1406054889	missense variant	-	NC_000013.11:g.77918568C>A	gnomAD
EDNRB	P24530	p.Pro3Leu	rs200047993	missense variant	-	NC_000013.11:g.77918566G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro4Ala	rs777992864	missense variant	-	NC_000013.11:g.77918564G>C	ExAC,gnomAD
EDNRB	P24530	p.Pro5Thr	rs12720160	missense variant	-	NC_000013.11:g.77918561G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu7Met	rs1239813325	missense variant	-	NC_000013.11:g.77918555G>T	gnomAD
EDNRB	P24530	p.Leu7Gln	rs5345	missense variant	-	NC_000013.11:g.77918554A>T	-
EDNRB	P24530	p.Leu7Gln	rs5345	missense variant	-	NC_000013.11:g.77918554A>T	UniProt,dbSNP
EDNRB	P24530	p.Leu7Gln	VAR_014675	missense variant	-	NC_000013.11:g.77918554A>T	UniProt
EDNRB	P24530	p.Cys8Gly	rs765870134	missense variant	-	NC_000013.11:g.77918552A>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg10Cys	rs1204381719	missense variant	-	NC_000013.11:g.77918546G>A	gnomAD
EDNRB	P24530	p.Ala11Val	rs754162462	missense variant	-	NC_000013.11:g.77918542G>A	ExAC,gnomAD
EDNRB	P24530	p.Ala14Gly	rs548023225	missense variant	-	NC_000013.11:g.77918533G>C	1000Genomes,TOPMed
EDNRB	P24530	p.Ala14Val	rs548023225	missense variant	-	NC_000013.11:g.77918533G>A	1000Genomes,TOPMed
EDNRB	P24530	p.Val16Phe	rs142767792	missense variant	-	NC_000013.11:g.77918528C>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val16Leu	rs142767792	missense variant	-	NC_000013.11:g.77918528C>G	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu17Phe	rs5346	missense variant	-	NC_000013.11:g.77918525G>A	UniProt,dbSNP
EDNRB	P24530	p.Leu17Phe	VAR_014676	missense variant	-	NC_000013.11:g.77918525G>A	UniProt
EDNRB	P24530	p.Leu17Phe	RCV000404231	missense variant	Waardenburg syndrome	NC_000013.11:g.77918525G>A	ClinVar
EDNRB	P24530	p.Leu17Phe	rs5346	missense variant	-	NC_000013.11:g.77918525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu17Phe	RCV000297140	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77918525G>A	ClinVar
EDNRB	P24530	p.Leu17Pro	VAR_078312	Missense	-	-	UniProt
EDNRB	P24530	p.Gly20Ser	rs762469442	missense variant	-	NC_000013.11:g.77918516C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser22Ala	rs1382140942	missense variant	-	NC_000013.11:g.77918510A>C	gnomAD
EDNRB	P24530	p.Arg23Trp	rs769618877	missense variant	-	NC_000013.11:g.77918507G>A	ExAC,gnomAD
EDNRB	P24530	p.Gly26Arg	rs1235599209	missense variant	-	NC_000013.11:g.77918498C>T	gnomAD
EDNRB	P24530	p.Gly30Asp	rs551739242	missense variant	-	NC_000013.11:g.77918485C>T	1000Genomes,ExAC,gnomAD
EDNRB	P24530	p.Pro32Ser	rs200723251	missense variant	-	NC_000013.11:g.77918480G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asp34Glu	rs149740482	missense variant	-	NC_000013.11:g.77918472G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg35Thr	rs1259767883	missense variant	-	NC_000013.11:g.77918470C>G	gnomAD
EDNRB	P24530	p.Ala36Ser	rs1354646550	missense variant	-	NC_000013.11:g.77918468C>A	gnomAD
EDNRB	P24530	p.Ala36Asp	rs752856831	missense variant	-	NC_000013.11:g.77918467G>T	ExAC
EDNRB	P24530	p.Thr37Ile	rs1288505904	missense variant	-	NC_000013.11:g.77918464G>A	gnomAD
EDNRB	P24530	p.Pro38Leu	rs779495524	missense variant	-	NC_000013.11:g.77918461G>A	ExAC,gnomAD
EDNRB	P24530	p.Ala43Ser	rs200304077	missense variant	-	NC_000013.11:g.77918447C>A	gnomAD
EDNRB	P24530	p.Glu44Val	rs755457512	missense variant	-	NC_000013.11:g.77918443T>A	ExAC
EDNRB	P24530	p.Glu44Asp	rs1401360436	missense variant	-	NC_000013.11:g.77918442C>A	TOPMed
EDNRB	P24530	p.Ile45Thr	rs990292887	missense variant	-	NC_000013.11:g.77918440A>G	TOPMed
EDNRB	P24530	p.Thr47Lys	rs1316261633	missense variant	-	NC_000013.11:g.77918434G>T	gnomAD
EDNRB	P24530	p.Pro48Leu	rs538237989	missense variant	-	NC_000013.11:g.77918431G>A	1000Genomes,TOPMed
EDNRB	P24530	p.Thr52Ile	rs139997339	missense variant	-	NC_000013.11:g.77918419G>A	ESP,TOPMed
EDNRB	P24530	p.Leu53Ser	rs766651046	missense variant	-	NC_000013.11:g.77918416A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Trp54Arg	rs1362059171	missense variant	-	NC_000013.11:g.77918414A>G	gnomAD
EDNRB	P24530	p.Pro55Arg	rs751161032	missense variant	-	NC_000013.11:g.77918410G>C	ExAC,gnomAD
EDNRB	P24530	p.Lys56Thr	rs763764641	missense variant	-	NC_000013.11:g.77918407T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly57Ser	RCV000018117	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77918405C>T	ClinVar
EDNRB	P24530	p.Gly57Ser	rs1801710	missense variant	-	NC_000013.11:g.77918405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala60Thr	rs142569954	missense variant	-	NC_000013.11:g.77918396C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala60Pro	rs142569954	missense variant	-	NC_000013.11:g.77918396C>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Trp	rs139147111	missense variant	-	NC_000013.11:g.77918384G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Pro	rs201002254	missense variant	-	NC_000013.11:g.77918383C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Gly	rs139147111	missense variant	-	NC_000013.11:g.77918384G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Leu	rs201002254	missense variant	-	NC_000013.11:g.77918383C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro68Leu	RCV000606747	missense variant	-	NC_000013.11:g.77918371G>A	ClinVar
EDNRB	P24530	p.Pro68Leu	rs201737510	missense variant	-	NC_000013.11:g.77918371G>A	TOPMed
EDNRB	P24530	p.Ala69Val	rs1019947807	missense variant	-	NC_000013.11:g.77918368G>A	TOPMed
EDNRB	P24530	p.Glu70Lys	rs748181676	missense variant	-	NC_000013.11:g.77918366C>T	ExAC,gnomAD
EDNRB	P24530	p.Val71Ter	RCV000627620	frameshift	-	NC_000013.11:g.77918355_77918367del	ClinVar
EDNRB	P24530	p.Pro72Ser	rs150750272	missense variant	-	NC_000013.11:g.77918360G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys73Glu	rs201488838	missense variant	-	NC_000013.11:g.77918357T>C	1000Genomes
EDNRB	P24530	p.Asp75Asn	rs1230438816	missense variant	-	NC_000013.11:g.77918351C>T	gnomAD
EDNRB	P24530	p.Arg76Gly	rs201207916	missense variant	-	NC_000013.11:g.77918348T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg76Trp	rs201207916	missense variant	-	NC_000013.11:g.77918348T>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg76Met	rs2228271	missense variant	-	NC_000013.11:g.77918347C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr77Met	rs1227502849	missense variant	-	NC_000013.11:g.77918344G>A	TOPMed,gnomAD
EDNRB	P24530	p.Thr77Arg	rs1227502849	missense variant	-	NC_000013.11:g.77918344G>C	TOPMed,gnomAD
EDNRB	P24530	p.Gly79Ala	rs1280900661	missense variant	-	NC_000013.11:g.77918338C>G	TOPMed,gnomAD
EDNRB	P24530	p.Gly79Glu	rs1280900661	missense variant	-	NC_000013.11:g.77918338C>T	TOPMed,gnomAD
EDNRB	P24530	p.Ser80Phe	rs1403988440	missense variant	-	NC_000013.11:g.77918335G>A	gnomAD
EDNRB	P24530	p.Pro81Leu	rs756427784	missense variant	-	NC_000013.11:g.77918332G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg83Cys	rs771230818	missense variant	-	NC_000013.11:g.77918327G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr84Ile	rs752412963	missense variant	-	NC_000013.11:g.77918323G>A	ExAC,gnomAD
EDNRB	P24530	p.Thr84Asn	rs752412963	missense variant	-	NC_000013.11:g.77918323G>T	ExAC,gnomAD
EDNRB	P24530	p.Pro87Ser	rs759133540	missense variant	-	NC_000013.11:g.77918315G>A	ExAC,gnomAD
EDNRB	P24530	p.Pro87His	rs1425908419	missense variant	-	NC_000013.11:g.77918314G>T	gnomAD
EDNRB	P24530	p.Pro88Leu	rs200756568	missense variant	-	NC_000013.11:g.77918311G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro88Ala	rs1410175049	missense variant	-	NC_000013.11:g.77918312G>C	TOPMed,gnomAD
EDNRB	P24530	p.Pro89Arg	rs1028136288	missense variant	-	NC_000013.11:g.77918308G>C	TOPMed,gnomAD
EDNRB	P24530	p.Gly92Glu	rs148189360	missense variant	-	NC_000013.11:g.77918299C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile94Ser	rs1235006032	missense variant	-	NC_000013.11:g.77918293A>C	TOPMed
EDNRB	P24530	p.Ile94Val	rs772055405	missense variant	-	NC_000013.11:g.77918294T>C	ExAC,gnomAD
EDNRB	P24530	p.Glu95Val	rs774676772	missense variant	-	NC_000013.11:g.77918290T>A	ExAC,gnomAD
EDNRB	P24530	p.Glu95Gln	rs1282405488	missense variant	-	NC_000013.11:g.77918291C>G	TOPMed
EDNRB	P24530	p.Lys97Glu	rs1280780830	missense variant	-	NC_000013.11:g.77918285T>C	gnomAD
EDNRB	P24530	p.Thr99Pro	rs768598369	missense variant	-	NC_000013.11:g.77918279T>G	ExAC,gnomAD
EDNRB	P24530	p.Tyr102Ter	rs1064797178	stop gained	-	NC_000013.11:g.77918268G>T	gnomAD
EDNRB	P24530	p.Tyr102Ter	RCV000657773	nonsense	-	NC_000013.11:g.77918268G>T	ClinVar
EDNRB	P24530	p.Ile103Val	rs894919134	missense variant	-	NC_000013.11:g.77918267T>C	TOPMed
EDNRB	P24530	p.Asn104Ile	rs780355308	missense variant	-	NC_000013.11:g.77918263T>A	ExAC,gnomAD
EDNRB	P24530	p.Asn104Ser	rs780355308	missense variant	-	NC_000013.11:g.77918263T>C	ExAC,gnomAD
EDNRB	P24530	p.Thr105Met	rs368400131	missense variant	-	NC_000013.11:g.77918260G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys109Ter	RCV000778401	frameshift	EDNRB-Related Disorders	NC_000013.11:g.77918248del	ClinVar
EDNRB	P24530	p.Leu110Val	rs1180581930	missense variant	-	NC_000013.11:g.77918246G>C	TOPMed
EDNRB	P24530	p.Val111Glu	rs1467139505	missense variant	-	NC_000013.11:g.77918242A>T	gnomAD
EDNRB	P24530	p.Phe112Val	rs5347	missense variant	-	NC_000013.11:g.77918240A>C	-
EDNRB	P24530	p.Phe112Val	rs5347	missense variant	-	NC_000013.11:g.77918240A>C	UniProt,dbSNP
EDNRB	P24530	p.Phe112Val	VAR_014677	missense variant	-	NC_000013.11:g.77918240A>C	UniProt
EDNRB	P24530	p.Val113Met	rs781532939	missense variant	-	NC_000013.11:g.77918237C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val113Leu	rs781532939	missense variant	-	NC_000013.11:g.77918237C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu114Pro	rs752268531	missense variant	-	NC_000013.11:g.77918233A>G	ExAC,gnomAD
EDNRB	P24530	p.Gly115Glu	RCV000521877	missense variant	-	NC_000013.11:g.77918230C>T	ClinVar
EDNRB	P24530	p.Gly115Glu	rs1555291991	missense variant	-	NC_000013.11:g.77918230C>T	-
EDNRB	P24530	p.Ile116Thr	rs559289370	missense variant	-	NC_000013.11:g.77918227A>G	1000Genomes
EDNRB	P24530	p.Ile117Leu	rs1439177895	missense variant	-	NC_000013.11:g.77918225T>G	TOPMed
EDNRB	P24530	p.Arg124Lys	rs541269180	missense variant	-	NC_000013.11:g.77918203C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn129Lys	rs374619256	missense variant	-	NC_000013.11:g.77918187G>T	ESP,TOPMed
EDNRB	P24530	p.Lys130Thr	rs753395287	missense variant	-	NC_000013.11:g.77918185T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys131Arg	rs1261885036	missense variant	-	NC_000013.11:g.77918183A>G	gnomAD
EDNRB	P24530	p.Asn134Ile	rs1396733251	missense variant	-	NC_000013.11:g.77918173T>A	TOPMed
EDNRB	P24530	p.Gly135Ser	rs760677132	missense variant	-	NC_000013.11:g.77918171C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn137Tyr	VAR_078313	Missense	-	-	UniProt
EDNRB	P24530	p.Ile138Val	rs1221743247	missense variant	-	NC_000013.11:g.77918162T>C	gnomAD
EDNRB	P24530	p.Leu139Phe	rs371558629	missense variant	-	NC_000013.11:g.77918157C>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu139Val	rs143042375	missense variant	-	NC_000013.11:g.77918159A>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu139Phe	rs371558629	missense variant	-	NC_000013.11:g.77918157C>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile140Met	rs1046390473	missense variant	-	NC_000013.11:g.77918154G>C	TOPMed
EDNRB	P24530	p.Ala141Ser	rs762880632	missense variant	-	NC_000013.11:g.77918153C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala141Thr	rs762880632	missense variant	-	NC_000013.11:g.77918153C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly146Ala	rs1336072126	missense variant	-	NC_000013.11:g.77918137C>G	gnomAD
EDNRB	P24530	p.His150Leu	rs1399198786	missense variant	-	NC_000013.11:g.77918125T>A	gnomAD
EDNRB	P24530	p.Ile151Val	rs769924328	missense variant	-	NC_000013.11:g.77918123T>C	ExAC,gnomAD
EDNRB	P24530	p.Ile153Thr	rs1159624775	missense variant	-	NC_000013.11:g.77918116A>G	gnomAD
EDNRB	P24530	p.Asp154Gly	rs746343092	missense variant	-	NC_000013.11:g.77918113T>C	ExAC,gnomAD
EDNRB	P24530	p.Pro156Arg	VAR_078314	Missense	-	-	UniProt
EDNRB	P24530	p.Ile157Val	rs368159798	missense variant	-	NC_000013.11:g.77918105T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly170Arg	rs1339942721	missense variant	-	NC_000013.11:g.77903583C>T	gnomAD
EDNRB	P24530	p.Glu172Gln	rs1402105082	missense variant	-	NC_000013.11:g.77903577C>G	gnomAD
EDNRB	P24530	p.Glu172Asp	rs772385532	missense variant	-	NC_000013.11:g.77903575C>G	ExAC,gnomAD
EDNRB	P24530	p.Glu172Ala	rs778187586	missense variant	-	NC_000013.11:g.77903576T>G	ExAC,gnomAD
EDNRB	P24530	p.Cys174Ter	RCV000659494	frameshift	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903570del	ClinVar
EDNRB	P24530	p.Leu176Val	rs143312578	missense variant	-	NC_000013.11:g.77903565G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val177Leu	rs1168969805	missense variant	-	NC_000013.11:g.77903562C>A	gnomAD
EDNRB	P24530	p.Pro178Thr	rs201311945	missense variant	-	NC_000013.11:g.77903559G>T	ExAC,gnomAD
EDNRB	P24530	p.Ile180Met	rs759131722	missense variant	-	NC_000013.11:g.77903551T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile180Leu	rs1423762419	missense variant	-	NC_000013.11:g.77903553T>G	gnomAD
EDNRB	P24530	p.Gln181Glu	rs1479241351	missense variant	-	NC_000013.11:g.77903550G>C	gnomAD
EDNRB	P24530	p.Ala183Gly	rs104894388	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt,dbSNP
EDNRB	P24530	p.Ala183Gly	VAR_003470	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt
EDNRB	P24530	p.Ala183Gly	rs104894388	missense variant	-	NC_000013.11:g.77903543G>C	-
EDNRB	P24530	p.Ala183Gly	RCV000018114	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903543G>C	ClinVar
EDNRB	P24530	p.Ser184Pro	RCV000659495	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903541A>G	ClinVar
EDNRB	P24530	p.Ser184Pro	rs1555290659	missense variant	-	NC_000013.11:g.77903541A>G	-
EDNRB	P24530	p.Val185Met	rs781214034	missense variant	-	NC_000013.11:g.77903538C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val185Met	RCV000758016	missense variant	Total intestinal aganglionosis	NC_000013.11:g.77903538C>T	ClinVar
EDNRB	P24530	p.Ser191Cys	rs1013425803	missense variant	-	NC_000013.11:g.77903520T>A	TOPMed,gnomAD
EDNRB	P24530	p.Ala194Val	rs751513574	missense variant	-	NC_000013.11:g.77903510G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg199Gly	rs1258768009	missense variant	-	NC_000013.11:g.77903496T>C	gnomAD
EDNRB	P24530	p.Arg201Pro	rs780841273	missense variant	-	NC_000013.11:g.77903355C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Gln	rs780841273	missense variant	-	NC_000013.11:g.77903355C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Ter	RCV000659496	nonsense	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903356G>A	ClinVar
EDNRB	P24530	p.Arg201Ter	rs104894391	stop gained	Abcd syndrome (abcds)	NC_000013.11:g.77903356G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Ter	RCV000018120	nonsense	ABCD syndrome (ABCDS)	NC_000013.11:g.77903356G>A	ClinVar
EDNRB	P24530	p.Ala202Val	rs1354645639	missense variant	-	NC_000013.11:g.77903352G>A	TOPMed
EDNRB	P24530	p.Val203Ile	rs202068468	missense variant	-	NC_000013.11:g.77903350C>T	ExAC,gnomAD
EDNRB	P24530	p.Val203Phe	rs202068468	missense variant	-	NC_000013.11:g.77903350C>A	ExAC,gnomAD
EDNRB	P24530	p.Val203Leu	rs202068468	missense variant	-	NC_000013.11:g.77903350C>G	ExAC,gnomAD
EDNRB	P24530	p.Trp206Ter	rs876657688	stop gained	-	NC_000013.11:g.77903339C>T	gnomAD
EDNRB	P24530	p.Trp206Ter	RCV000221133	nonsense	Rare genetic deafness	NC_000013.11:g.77903339C>T	ClinVar
EDNRB	P24530	p.Trp206Arg	rs1410186437	missense variant	-	NC_000013.11:g.77903341A>G	TOPMed
EDNRB	P24530	p.Ser207Asn	rs746941725	missense variant	-	NC_000013.11:g.77903337C>T	ExAC,gnomAD
EDNRB	P24530	p.Arg208Lys	rs1361744218	missense variant	-	NC_000013.11:g.77903334C>T	gnomAD
EDNRB	P24530	p.Gly211Val	rs752251497	missense variant	-	NC_000013.11:g.77903325C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly211Arg	rs932422479	missense variant	-	NC_000013.11:g.77903326C>T	TOPMed
EDNRB	P24530	p.Ile212Thr	rs1382035452	missense variant	-	NC_000013.11:g.77903322A>G	TOPMed,gnomAD
EDNRB	P24530	p.Val214Ile	rs1440733865	missense variant	-	NC_000013.11:g.77903317C>T	gnomAD
EDNRB	P24530	p.Trp217Leu	rs1255586825	missense variant	-	NC_000013.11:g.77903307C>A	TOPMed,gnomAD
EDNRB	P24530	p.Thr218Ile	rs1201160161	missense variant	-	NC_000013.11:g.77903304G>A	gnomAD
EDNRB	P24530	p.Leu224Ser	rs754126689	missense variant	-	NC_000013.11:g.77903286A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile225Thr	rs766452784	missense variant	-	NC_000013.11:g.77903283A>G	ExAC,gnomAD
EDNRB	P24530	p.Trp226_Ser442del	VAR_078315	inframe_deletion	-	-	UniProt
EDNRB	P24530	p.Val227Met	rs1312043256	missense variant	-	NC_000013.11:g.77903278C>T	TOPMed,gnomAD
EDNRB	P24530	p.Val228Ala	rs1334210764	missense variant	-	NC_000013.11:g.77903274A>G	gnomAD
EDNRB	P24530	p.Val228Phe	rs1340452566	missense variant	-	NC_000013.11:g.77903275C>A	gnomAD
EDNRB	P24530	p.Ala233Gly	rs1397335747	missense variant	-	NC_000013.11:g.77903259G>C	gnomAD
EDNRB	P24530	p.Ile238Thr	rs1420013932	missense variant	-	NC_000013.11:g.77903244A>G	gnomAD
EDNRB	P24530	p.Ile238Val	rs767943900	missense variant	-	NC_000013.11:g.77903245T>C	ExAC,gnomAD
EDNRB	P24530	p.Gly239Ser	rs973740703	missense variant	-	NC_000013.11:g.77903242C>T	TOPMed,gnomAD
EDNRB	P24530	p.Gly239Arg	rs973740703	missense variant	-	NC_000013.11:g.77903242C>G	TOPMed,gnomAD
EDNRB	P24530	p.Asp241Ala	rs201625400	missense variant	-	NC_000013.11:g.77903235T>G	ExAC,gnomAD
EDNRB	P24530	p.Asp241Asn	rs762204581	missense variant	-	NC_000013.11:g.77903236C>T	ExAC,gnomAD
EDNRB	P24530	p.Thr244Met	RCV000325008	missense variant	Waardenburg syndrome	NC_000013.11:g.77903226G>A	ClinVar
EDNRB	P24530	p.Thr244Met	rs5350	missense variant	-	NC_000013.11:g.77903226G>A	UniProt,dbSNP
EDNRB	P24530	p.Thr244Met	VAR_014678	missense variant	-	NC_000013.11:g.77903226G>A	UniProt
EDNRB	P24530	p.Thr244Met	rs5350	missense variant	-	NC_000013.11:g.77903226G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr244Met	RCV000381908	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77903226G>A	ClinVar
EDNRB	P24530	p.Met245Thr	rs1216200131	missense variant	-	NC_000013.11:g.77903223A>G	TOPMed,gnomAD
EDNRB	P24530	p.Met245Lys	rs1216200131	missense variant	-	NC_000013.11:g.77903223A>T	TOPMed,gnomAD
EDNRB	P24530	p.Met245Ile	rs776468186	missense variant	-	NC_000013.11:g.77903222C>T	ExAC,gnomAD
EDNRB	P24530	p.Asp246Asn	rs1288566827	missense variant	-	NC_000013.11:g.77903221C>T	gnomAD
EDNRB	P24530	p.Asp246Gly	rs371218105	missense variant	-	NC_000013.11:g.77903220T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr247Cys	rs200272603	missense variant	-	NC_000013.11:g.77903217T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys248Thr	rs777697952	missense variant	-	NC_000013.11:g.77903214T>G	ExAC,gnomAD
EDNRB	P24530	p.Lys248Asn	rs758280131	missense variant	-	NC_000013.11:g.77903213T>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly249Arg	rs748143676	missense variant	-	NC_000013.11:g.77903212C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser250Gly	rs199521140	missense variant	-	NC_000013.11:g.77903209T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser250Ile	rs754807912	missense variant	-	NC_000013.11:g.77903208C>A	ExAC,gnomAD
EDNRB	P24530	p.Leu252Pro	rs754040927	missense variant	-	NC_000013.11:g.77903202A>G	ExAC,gnomAD
EDNRB	P24530	p.Arg253Gln	rs140514830	missense variant	-	NC_000013.11:g.77903199C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg253Ter	rs104894390	stop gained	-	NC_000013.11:g.77903200G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg253Gln	RCV000603036	missense variant	-	NC_000013.11:g.77903199C>T	ClinVar
EDNRB	P24530	p.Arg253Ter	RCV000018119	nonsense	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903200G>A	ClinVar
EDNRB	P24530	p.Ile254Thr	rs371057149	missense variant	-	NC_000013.11:g.77903196A>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile254Leu	rs750477425	missense variant	-	NC_000013.11:g.77903197T>G	ExAC,gnomAD
EDNRB	P24530	p.Ile254Asn	rs371057149	missense variant	-	NC_000013.11:g.77903196A>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.His258Gln	rs752147666	missense variant	-	NC_000013.11:g.77903183A>T	ExAC,gnomAD
EDNRB	P24530	p.His258Asp	rs368940609	missense variant	-	NC_000013.11:g.77903185G>C	ESP,ExAC,gnomAD
EDNRB	P24530	p.His258Tyr	rs368940609	missense variant	-	NC_000013.11:g.77903185G>A	ESP,ExAC,gnomAD
EDNRB	P24530	p.Pro259Ser	rs200431358	missense variant	-	NC_000013.11:g.77903182G>A	ExAC,gnomAD
EDNRB	P24530	p.Pro259Arg	rs1265700652	missense variant	-	NC_000013.11:g.77903181G>C	gnomAD
EDNRB	P24530	p.Val260Gly	rs1220991715	missense variant	-	NC_000013.11:g.77903178A>C	TOPMed
EDNRB	P24530	p.Val260Ile	RCV000839975	missense variant	-	NC_000013.11:g.77903179C>T	ClinVar
EDNRB	P24530	p.Val260Phe	rs77132068	missense variant	-	NC_000013.11:g.77903179C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val260Ile	rs77132068	missense variant	-	NC_000013.11:g.77903179C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val260Ile	RCV000614742	missense variant	-	NC_000013.11:g.77903179C>T	ClinVar
EDNRB	P24530	p.Thr263Ala	rs1347740196	missense variant	-	NC_000013.11:g.77903170T>C	TOPMed
EDNRB	P24530	p.Ala264Val	rs1212186974	missense variant	-	NC_000013.11:g.77903166G>A	TOPMed,gnomAD
EDNRB	P24530	p.Ala264Val	RCV000660537	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903166G>A	ClinVar
EDNRB	P24530	p.Phe268Leu	rs1332382690	missense variant	-	NC_000013.11:g.77901207A>G	gnomAD
EDNRB	P24530	p.Lys270Gln	rs771549175	missense variant	-	NC_000013.11:g.77901201T>G	ExAC,gnomAD
EDNRB	P24530	p.Thr271Ala	rs1485754365	missense variant	-	NC_000013.11:g.77901198T>C	TOPMed
EDNRB	P24530	p.Asp274Tyr	rs199937989	missense variant	-	NC_000013.11:g.77901189C>A	ExAC,gnomAD
EDNRB	P24530	p.Asp274Gly	rs142295388	missense variant	-	NC_000013.11:g.77901188T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asp274Asn	rs199937989	missense variant	-	NC_000013.11:g.77901189C>T	ExAC,gnomAD
EDNRB	P24530	p.Asp274Val	rs142295388	missense variant	-	NC_000013.11:g.77901188T>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Trp275Ser	rs104894389	missense variant	-	NC_000013.11:g.77901185C>G	ExAC,gnomAD
EDNRB	P24530	p.Trp275Gly	rs1422704119	missense variant	-	NC_000013.11:g.77901186A>C	TOPMed
EDNRB	P24530	p.Trp275Ter	rs104894389	stop gained	-	NC_000013.11:g.77901185C>T	ExAC,gnomAD
EDNRB	P24530	p.Trp275Ter	RCV000018115	nonsense	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901185C>T	ClinVar
EDNRB	P24530	p.Trp276Cys	rs104894387	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt,dbSNP
EDNRB	P24530	p.Trp276Cys	VAR_003471	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt
EDNRB	P24530	p.Trp276Cys	rs104894387	missense variant	-	NC_000013.11:g.77901181C>A	ESP,TOPMed,gnomAD
EDNRB	P24530	p.Trp276Cys	RCV000018112	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	ClinVar
EDNRB	P24530	p.Ser279Asn	rs746051328	missense variant	-	NC_000013.11:g.77901173C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser279Thr	rs746051328	missense variant	-	NC_000013.11:g.77901173C>G	ExAC,gnomAD
EDNRB	P24530	p.Phe291Leu	rs1280369607	missense variant	-	NC_000013.11:g.77901138A>G	gnomAD
EDNRB	P24530	p.Phe292Leu	VAR_015294	Missense	Waardenburg syndrome 4A (WS4A) [MIM:277580]	-	UniProt
EDNRB	P24530	p.Tyr293His	rs1352720092	missense variant	-	NC_000013.11:g.77901132A>G	gnomAD
EDNRB	P24530	p.Tyr293Ter	rs1064797177	stop gained	-	NC_000013.11:g.77901131dup	-
EDNRB	P24530	p.Tyr293Ter	RCV000487897	nonsense	-	NC_000013.11:g.77901131dup	ClinVar
EDNRB	P24530	p.Tyr293Ter	RCV000018116	frameshift	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901138dup	ClinVar
EDNRB	P24530	p.Thr294Ter	RCV000513371	frameshift	-	NC_000013.11:g.77901130dup	ClinVar
EDNRB	P24530	p.Thr294Ile	rs758958773	missense variant	-	NC_000013.11:g.77901128G>A	ExAC,gnomAD
EDNRB	P24530	p.Met296Leu	rs765490586	missense variant	-	NC_000013.11:g.77901123T>A	ExAC
EDNRB	P24530	p.Leu301Ser	rs112067501	missense variant	-	NC_000013.11:g.77901107A>G	gnomAD
EDNRB	P24530	p.Leu301Ter	rs112067501	stop gained	-	NC_000013.11:g.77901107A>T	gnomAD
EDNRB	P24530	p.Arg302Lys	rs1415699054	missense variant	-	NC_000013.11:g.77901104C>T	TOPMed
EDNRB	P24530	p.Lys303Arg	rs1336420198	missense variant	-	NC_000013.11:g.77901101T>C	gnomAD
EDNRB	P24530	p.Lys304Ile	rs376098154	missense variant	-	NC_000013.11:g.77901098T>A	ESP,ExAC,gnomAD
EDNRB	P24530	p.Lys304Asn	rs749996130	missense variant	-	NC_000013.11:g.77901097T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser305Asn	rs5352	missense variant	-	NC_000013.11:g.77901095C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser305Asn	rs5352	missense variant	-	NC_000013.11:g.77901095C>T	UniProt,dbSNP
EDNRB	P24530	p.Ser305Asn	VAR_003472	missense variant	-	NC_000013.11:g.77901095C>T	UniProt
EDNRB	P24530	p.Ser305Asn	RCV000018118	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901095C>T	ClinVar
EDNRB	P24530	p.Gln308Lys	rs199558894	missense variant	-	NC_000013.11:g.77901087G>T	ExAC,gnomAD
EDNRB	P24530	p.Ala310Thr	rs944500117	missense variant	-	NC_000013.11:g.77901081C>T	TOPMed
EDNRB	P24530	p.Asp313Asn	rs907722017	missense variant	-	NC_000013.11:g.77901072C>T	TOPMed
EDNRB	P24530	p.Asp313Tyr	rs907722017	missense variant	-	NC_000013.11:g.77901072C>A	TOPMed
EDNRB	P24530	p.Lys316Arg	rs1238777762	missense variant	-	NC_000013.11:g.77901062T>C	gnomAD
EDNRB	P24530	p.Arg319Gln	rs759543922	missense variant	-	NC_000013.11:g.77900650C>T	ExAC,gnomAD
EDNRB	P24530	p.Arg319Leu	rs759543922	missense variant	-	NC_000013.11:g.77900650C>A	ExAC,gnomAD
EDNRB	P24530	p.Arg319Trp	rs200363611	missense variant	-	NC_000013.11:g.77900651G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala322Val	rs1233747891	missense variant	-	NC_000013.11:g.77900641G>A	gnomAD
EDNRB	P24530	p.Val325Ile	rs201437745	missense variant	-	NC_000013.11:g.77900633C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val325Ile	RCV000659498	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77900633C>T	ClinVar
EDNRB	P24530	p.Leu328Met	rs1216944717	missense variant	-	NC_000013.11:g.77900624G>T	gnomAD
EDNRB	P24530	p.Val331Leu	rs1340103087	missense variant	-	NC_000013.11:g.77900615C>G	gnomAD
EDNRB	P24530	p.Ala333Val	rs1279092107	missense variant	-	NC_000013.11:g.77900608G>A	gnomAD
EDNRB	P24530	p.Pro338Leu	RCV000758015	missense variant	Total intestinal aganglionosis	NC_000013.11:g.77900593G>A	ClinVar
EDNRB	P24530	p.Lys346Arg	rs1162021124	missense variant	-	NC_000013.11:g.77900569T>C	TOPMed
EDNRB	P24530	p.Thr348Ser	rs776554067	missense variant	-	NC_000013.11:g.77900564T>A	ExAC,gnomAD
EDNRB	P24530	p.Leu349Phe	rs1293406077	missense variant	-	NC_000013.11:g.77900561G>A	gnomAD
EDNRB	P24530	p.Asn351Asp	rs1335692950	missense variant	-	NC_000013.11:g.77900555T>C	gnomAD
EDNRB	P24530	p.Asn351Lys	rs1437781516	missense variant	-	NC_000013.11:g.77900553A>T	gnomAD
EDNRB	P24530	p.Gln352Arg	rs1397373759	missense variant	-	NC_000013.11:g.77900551T>C	TOPMed,gnomAD
EDNRB	P24530	p.Asn353Lys	rs1167913825	missense variant	-	NC_000013.11:g.77900547A>C	gnomAD
EDNRB	P24530	p.Leu360His	rs1295402804	missense variant	-	NC_000013.11:g.77900527A>T	gnomAD
EDNRB	P24530	p.Ser362Arg	rs369090616	missense variant	-	NC_000013.11:g.77900522T>G	TOPMed,gnomAD
EDNRB	P24530	p.Leu364Met	rs180686892	missense variant	-	NC_000013.11:g.77899963G>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu364Val	rs180686892	missense variant	-	NC_000013.11:g.77899963G>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr369Phe	rs202171748	missense variant	-	NC_000013.11:g.77899947T>A	TOPMed
EDNRB	P24530	p.Ile370Thr	rs1455429720	missense variant	-	NC_000013.11:g.77899944A>G	gnomAD
EDNRB	P24530	p.Gly371Cys	rs202153354	missense variant	-	NC_000013.11:g.77899942C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly371Ser	rs202153354	missense variant	-	NC_000013.11:g.77899942C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Met374Ile	VAR_003474	Missense	Hirschsprung disease 2 (HSCR2) [MIM:600155]	-	UniProt
EDNRB	P24530	p.Leu377Val	rs1177969210	missense variant	-	NC_000013.11:g.77899924G>C	gnomAD
EDNRB	P24530	p.Cys380Ser	rs200939685	missense variant	-	NC_000013.11:g.77899914C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys380Ser	RCV000260247	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77899914C>G	ClinVar
EDNRB	P24530	p.Cys380Ser	RCV000299186	missense variant	Waardenburg syndrome	NC_000013.11:g.77899914C>G	ClinVar
EDNRB	P24530	p.Ile381Val	rs1197671529	missense variant	-	NC_000013.11:g.77899912T>C	gnomAD
EDNRB	P24530	p.Pro383Leu	VAR_003475	Missense	Hirschsprung disease 2 (HSCR2) [MIM:600155]	-	UniProt
EDNRB	P24530	p.Ile384Val	rs567578805	missense variant	-	NC_000013.11:g.77899903T>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys391Gln	rs1466632176	missense variant	-	NC_000013.11:g.77899882T>G	TOPMed
EDNRB	P24530	p.Lys391Arg	rs773530703	missense variant	-	NC_000013.11:g.77899881T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Phe393Leu	rs772345263	missense variant	-	NC_000013.11:g.77899874G>C	ExAC,gnomAD
EDNRB	P24530	p.Phe397Val	rs1378362046	missense variant	-	NC_000013.11:g.77899864A>C	TOPMed,gnomAD
EDNRB	P24530	p.Phe397Tyr	rs1396007412	missense variant	-	NC_000013.11:g.77899863A>T	TOPMed
EDNRB	P24530	p.Ser399Thr	rs750260325	missense variant	-	NC_000013.11:g.77898334A>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser399Pro	rs750260325	missense variant	-	NC_000013.11:g.77898334A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys400Trp	rs1312925422	missense variant	-	NC_000013.11:g.77898329G>C	TOPMed,gnomAD
EDNRB	P24530	p.Leu401Phe	rs1364508724	missense variant	-	NC_000013.11:g.77898326T>G	TOPMed
EDNRB	P24530	p.Trp404Ter	rs767275433	stop gained	-	NC_000013.11:g.77898318C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Phe408Leu	rs1297352198	missense variant	-	NC_000013.11:g.77898307A>G	gnomAD
EDNRB	P24530	p.Ser413Phe	rs1319801057	missense variant	-	NC_000013.11:g.77898291G>A	TOPMed
EDNRB	P24530	p.Ser413Thr	rs762094666	missense variant	-	NC_000013.11:g.77898292A>T	ExAC,gnomAD
EDNRB	P24530	p.Ser419Leu	rs200548885	missense variant	-	NC_000013.11:g.77898273G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys422Glu	rs200720978	missense variant	-	NC_000013.11:g.77898265T>C	ExAC,gnomAD
EDNRB	P24530	p.Lys422Asn	rs1375298638	missense variant	-	NC_000013.11:g.77898263C>G	gnomAD
EDNRB	P24530	p.Lys424Glu	rs1359074336	missense variant	-	NC_000013.11:g.77898259T>C	TOPMed
EDNRB	P24530	p.Ala425Pro	rs771239282	missense variant	-	NC_000013.11:g.77898256C>G	ExAC,gnomAD
EDNRB	P24530	p.Asn426Lys	rs747813758	missense variant	-	NC_000013.11:g.77898251A>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn426Asp	rs1217607090	missense variant	-	NC_000013.11:g.77898253T>C	TOPMed
EDNRB	P24530	p.Asp427Gly	rs778453066	missense variant	-	NC_000013.11:g.77898249T>C	ExAC,gnomAD
EDNRB	P24530	p.His428Gln	rs754498240	missense variant	-	NC_000013.11:g.77898245G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.His428Arg	rs1238508690	missense variant	-	NC_000013.11:g.77898246T>C	TOPMed
EDNRB	P24530	p.His428Tyr	rs1215746671	missense variant	-	NC_000013.11:g.77898247G>A	TOPMed
EDNRB	P24530	p.Gly429Glu	rs1315670514	missense variant	-	NC_000013.11:g.77898243C>T	gnomAD
EDNRB	P24530	p.Gly429Arg	RCV000402655	missense variant	Waardenburg syndrome	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	RCV000220584	missense variant	-	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	RCV000310434	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	rs144565124	missense variant	-	NC_000013.11:g.77898244C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr430His	rs568662694	missense variant	-	NC_000013.11:g.77898241A>G	1000Genomes,ExAC,gnomAD
EDNRB	P24530	p.Arg434Ser	rs750396591	missense variant	-	NC_000013.11:g.77898229G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg434Cys	rs750396591	missense variant	-	NC_000013.11:g.77898229G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg434His	rs201243241	missense variant	-	NC_000013.11:g.77898228C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser435Tyr	rs757021438	missense variant	-	NC_000013.11:g.77898225G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser435Phe	rs757021438	missense variant	-	NC_000013.11:g.77898225G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser436Gly	rs751760790	missense variant	-	NC_000013.11:g.77898223T>C	ExAC,gnomAD
EDNRB	P24530	p.Ser436Thr	rs764302607	missense variant	-	NC_000013.11:g.77898222C>G	ExAC,gnomAD
EDNRB	P24530	p.Ser441Leu	rs762959381	missense variant	-	NC_000013.11:g.77898207G>A	ExAC,gnomAD
EDNRB	P24530	p.Gln2Arg	rs1468720481	missense variant	-	NC_000013.11:g.77918569T>C	gnomAD
EDNRB	P24530	p.Gln2His	rs1406054889	missense variant	-	NC_000013.11:g.77918568C>A	gnomAD
EDNRB	P24530	p.Pro3Leu	rs200047993	missense variant	-	NC_000013.11:g.77918566G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro4Ala	rs777992864	missense variant	-	NC_000013.11:g.77918564G>C	ExAC,gnomAD
EDNRB	P24530	p.Pro5Thr	rs12720160	missense variant	-	NC_000013.11:g.77918561G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu7Met	rs1239813325	missense variant	-	NC_000013.11:g.77918555G>T	gnomAD
EDNRB	P24530	p.Leu7Gln	rs5345	missense variant	-	NC_000013.11:g.77918554A>T	-
EDNRB	P24530	p.Leu7Gln	rs5345	missense variant	-	NC_000013.11:g.77918554A>T	UniProt,dbSNP
EDNRB	P24530	p.Leu7Gln	VAR_014675	missense variant	-	NC_000013.11:g.77918554A>T	UniProt
EDNRB	P24530	p.Cys8Gly	rs765870134	missense variant	-	NC_000013.11:g.77918552A>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg10Cys	rs1204381719	missense variant	-	NC_000013.11:g.77918546G>A	gnomAD
EDNRB	P24530	p.Ala11Val	rs754162462	missense variant	-	NC_000013.11:g.77918542G>A	ExAC,gnomAD
EDNRB	P24530	p.Ala14Val	rs548023225	missense variant	-	NC_000013.11:g.77918533G>A	1000Genomes,TOPMed
EDNRB	P24530	p.Ala14Gly	rs548023225	missense variant	-	NC_000013.11:g.77918533G>C	1000Genomes,TOPMed
EDNRB	P24530	p.Val16Phe	rs142767792	missense variant	-	NC_000013.11:g.77918528C>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val16Leu	rs142767792	missense variant	-	NC_000013.11:g.77918528C>G	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu17Phe	rs5346	missense variant	-	NC_000013.11:g.77918525G>A	UniProt,dbSNP
EDNRB	P24530	p.Leu17Phe	VAR_014676	missense variant	-	NC_000013.11:g.77918525G>A	UniProt
EDNRB	P24530	p.Leu17Phe	rs5346	missense variant	-	NC_000013.11:g.77918525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu17Phe	RCV000404231	missense variant	Waardenburg syndrome	NC_000013.11:g.77918525G>A	ClinVar
EDNRB	P24530	p.Leu17Phe	RCV000297140	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77918525G>A	ClinVar
EDNRB	P24530	p.Leu17Pro	VAR_078312	Missense	-	-	UniProt
EDNRB	P24530	p.Gly20Ser	rs762469442	missense variant	-	NC_000013.11:g.77918516C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser22Ala	rs1382140942	missense variant	-	NC_000013.11:g.77918510A>C	gnomAD
EDNRB	P24530	p.Arg23Trp	rs769618877	missense variant	-	NC_000013.11:g.77918507G>A	ExAC,gnomAD
EDNRB	P24530	p.Gly26Arg	rs1235599209	missense variant	-	NC_000013.11:g.77918498C>T	gnomAD
EDNRB	P24530	p.Gly30Asp	rs551739242	missense variant	-	NC_000013.11:g.77918485C>T	1000Genomes,ExAC,gnomAD
EDNRB	P24530	p.Pro32Ser	rs200723251	missense variant	-	NC_000013.11:g.77918480G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asp34Glu	rs149740482	missense variant	-	NC_000013.11:g.77918472G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg35Thr	rs1259767883	missense variant	-	NC_000013.11:g.77918470C>G	gnomAD
EDNRB	P24530	p.Ala36Ser	rs1354646550	missense variant	-	NC_000013.11:g.77918468C>A	gnomAD
EDNRB	P24530	p.Ala36Asp	rs752856831	missense variant	-	NC_000013.11:g.77918467G>T	ExAC
EDNRB	P24530	p.Thr37Ile	rs1288505904	missense variant	-	NC_000013.11:g.77918464G>A	gnomAD
EDNRB	P24530	p.Pro38Leu	rs779495524	missense variant	-	NC_000013.11:g.77918461G>A	ExAC,gnomAD
EDNRB	P24530	p.Ala43Ser	rs200304077	missense variant	-	NC_000013.11:g.77918447C>A	gnomAD
EDNRB	P24530	p.Glu44Asp	rs1401360436	missense variant	-	NC_000013.11:g.77918442C>A	TOPMed
EDNRB	P24530	p.Glu44Val	rs755457512	missense variant	-	NC_000013.11:g.77918443T>A	ExAC
EDNRB	P24530	p.Ile45Thr	rs990292887	missense variant	-	NC_000013.11:g.77918440A>G	TOPMed
EDNRB	P24530	p.Thr47Lys	rs1316261633	missense variant	-	NC_000013.11:g.77918434G>T	gnomAD
EDNRB	P24530	p.Pro48Leu	rs538237989	missense variant	-	NC_000013.11:g.77918431G>A	1000Genomes,TOPMed
EDNRB	P24530	p.Thr52Ile	rs139997339	missense variant	-	NC_000013.11:g.77918419G>A	ESP,TOPMed
EDNRB	P24530	p.Leu53Ser	rs766651046	missense variant	-	NC_000013.11:g.77918416A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Trp54Arg	rs1362059171	missense variant	-	NC_000013.11:g.77918414A>G	gnomAD
EDNRB	P24530	p.Pro55Arg	rs751161032	missense variant	-	NC_000013.11:g.77918410G>C	ExAC,gnomAD
EDNRB	P24530	p.Lys56Thr	rs763764641	missense variant	-	NC_000013.11:g.77918407T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly57Ser	rs1801710	missense variant	-	NC_000013.11:g.77918405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly57Ser	RCV000018117	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77918405C>T	ClinVar
EDNRB	P24530	p.Ala60Thr	rs142569954	missense variant	-	NC_000013.11:g.77918396C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala60Pro	rs142569954	missense variant	-	NC_000013.11:g.77918396C>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Gly	rs139147111	missense variant	-	NC_000013.11:g.77918384G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Pro	rs201002254	missense variant	-	NC_000013.11:g.77918383C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Trp	rs139147111	missense variant	-	NC_000013.11:g.77918384G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Leu	rs201002254	missense variant	-	NC_000013.11:g.77918383C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro68Leu	RCV000606747	missense variant	-	NC_000013.11:g.77918371G>A	ClinVar
EDNRB	P24530	p.Pro68Leu	rs201737510	missense variant	-	NC_000013.11:g.77918371G>A	TOPMed
EDNRB	P24530	p.Ala69Val	rs1019947807	missense variant	-	NC_000013.11:g.77918368G>A	TOPMed
EDNRB	P24530	p.Glu70Lys	rs748181676	missense variant	-	NC_000013.11:g.77918366C>T	ExAC,gnomAD
EDNRB	P24530	p.Val71Ter	RCV000627620	frameshift	-	NC_000013.11:g.77918355_77918367del	ClinVar
EDNRB	P24530	p.Pro72Ser	rs150750272	missense variant	-	NC_000013.11:g.77918360G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys73Glu	rs201488838	missense variant	-	NC_000013.11:g.77918357T>C	1000Genomes
EDNRB	P24530	p.Asp75Asn	rs1230438816	missense variant	-	NC_000013.11:g.77918351C>T	gnomAD
EDNRB	P24530	p.Arg76Gly	rs201207916	missense variant	-	NC_000013.11:g.77918348T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg76Trp	rs201207916	missense variant	-	NC_000013.11:g.77918348T>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg76Met	rs2228271	missense variant	-	NC_000013.11:g.77918347C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr77Met	rs1227502849	missense variant	-	NC_000013.11:g.77918344G>A	TOPMed,gnomAD
EDNRB	P24530	p.Thr77Arg	rs1227502849	missense variant	-	NC_000013.11:g.77918344G>C	TOPMed,gnomAD
EDNRB	P24530	p.Gly79Ala	rs1280900661	missense variant	-	NC_000013.11:g.77918338C>G	TOPMed,gnomAD
EDNRB	P24530	p.Gly79Glu	rs1280900661	missense variant	-	NC_000013.11:g.77918338C>T	TOPMed,gnomAD
EDNRB	P24530	p.Ser80Phe	rs1403988440	missense variant	-	NC_000013.11:g.77918335G>A	gnomAD
EDNRB	P24530	p.Pro81Leu	rs756427784	missense variant	-	NC_000013.11:g.77918332G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg83Cys	rs771230818	missense variant	-	NC_000013.11:g.77918327G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr84Ile	rs752412963	missense variant	-	NC_000013.11:g.77918323G>A	ExAC,gnomAD
EDNRB	P24530	p.Thr84Asn	rs752412963	missense variant	-	NC_000013.11:g.77918323G>T	ExAC,gnomAD
EDNRB	P24530	p.Pro87Ser	rs759133540	missense variant	-	NC_000013.11:g.77918315G>A	ExAC,gnomAD
EDNRB	P24530	p.Pro87His	rs1425908419	missense variant	-	NC_000013.11:g.77918314G>T	gnomAD
EDNRB	P24530	p.Pro88Leu	rs200756568	missense variant	-	NC_000013.11:g.77918311G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro88Ala	rs1410175049	missense variant	-	NC_000013.11:g.77918312G>C	TOPMed,gnomAD
EDNRB	P24530	p.Pro89Arg	rs1028136288	missense variant	-	NC_000013.11:g.77918308G>C	TOPMed,gnomAD
EDNRB	P24530	p.Gly92Glu	rs148189360	missense variant	-	NC_000013.11:g.77918299C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile94Ser	rs1235006032	missense variant	-	NC_000013.11:g.77918293A>C	TOPMed
EDNRB	P24530	p.Ile94Val	rs772055405	missense variant	-	NC_000013.11:g.77918294T>C	ExAC,gnomAD
EDNRB	P24530	p.Glu95Val	rs774676772	missense variant	-	NC_000013.11:g.77918290T>A	ExAC,gnomAD
EDNRB	P24530	p.Glu95Gln	rs1282405488	missense variant	-	NC_000013.11:g.77918291C>G	TOPMed
EDNRB	P24530	p.Lys97Glu	rs1280780830	missense variant	-	NC_000013.11:g.77918285T>C	gnomAD
EDNRB	P24530	p.Thr99Pro	rs768598369	missense variant	-	NC_000013.11:g.77918279T>G	ExAC,gnomAD
EDNRB	P24530	p.Tyr102Ter	rs1064797178	stop gained	-	NC_000013.11:g.77918268G>T	gnomAD
EDNRB	P24530	p.Tyr102Ter	RCV000657773	nonsense	-	NC_000013.11:g.77918268G>T	ClinVar
EDNRB	P24530	p.Ile103Val	rs894919134	missense variant	-	NC_000013.11:g.77918267T>C	TOPMed
EDNRB	P24530	p.Asn104Ile	rs780355308	missense variant	-	NC_000013.11:g.77918263T>A	ExAC,gnomAD
EDNRB	P24530	p.Asn104Ser	rs780355308	missense variant	-	NC_000013.11:g.77918263T>C	ExAC,gnomAD
EDNRB	P24530	p.Thr105Met	rs368400131	missense variant	-	NC_000013.11:g.77918260G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys109Ter	RCV000778401	frameshift	EDNRB-Related Disorders	NC_000013.11:g.77918248del	ClinVar
EDNRB	P24530	p.Leu110Val	rs1180581930	missense variant	-	NC_000013.11:g.77918246G>C	TOPMed
EDNRB	P24530	p.Val111Glu	rs1467139505	missense variant	-	NC_000013.11:g.77918242A>T	gnomAD
EDNRB	P24530	p.Phe112Val	rs5347	missense variant	-	NC_000013.11:g.77918240A>C	UniProt,dbSNP
EDNRB	P24530	p.Phe112Val	VAR_014677	missense variant	-	NC_000013.11:g.77918240A>C	UniProt
EDNRB	P24530	p.Phe112Val	rs5347	missense variant	-	NC_000013.11:g.77918240A>C	-
EDNRB	P24530	p.Val113Leu	rs781532939	missense variant	-	NC_000013.11:g.77918237C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val113Met	rs781532939	missense variant	-	NC_000013.11:g.77918237C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu114Pro	rs752268531	missense variant	-	NC_000013.11:g.77918233A>G	ExAC,gnomAD
EDNRB	P24530	p.Gly115Glu	RCV000521877	missense variant	-	NC_000013.11:g.77918230C>T	ClinVar
EDNRB	P24530	p.Gly115Glu	rs1555291991	missense variant	-	NC_000013.11:g.77918230C>T	-
EDNRB	P24530	p.Ile116Thr	rs559289370	missense variant	-	NC_000013.11:g.77918227A>G	1000Genomes
EDNRB	P24530	p.Ile117Leu	rs1439177895	missense variant	-	NC_000013.11:g.77918225T>G	TOPMed
EDNRB	P24530	p.Arg124Lys	rs541269180	missense variant	-	NC_000013.11:g.77918203C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn129Lys	rs374619256	missense variant	-	NC_000013.11:g.77918187G>T	ESP,TOPMed
EDNRB	P24530	p.Lys130Thr	rs753395287	missense variant	-	NC_000013.11:g.77918185T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys131Arg	rs1261885036	missense variant	-	NC_000013.11:g.77918183A>G	gnomAD
EDNRB	P24530	p.Asn134Ile	rs1396733251	missense variant	-	NC_000013.11:g.77918173T>A	TOPMed
EDNRB	P24530	p.Gly135Ser	rs760677132	missense variant	-	NC_000013.11:g.77918171C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn137Tyr	VAR_078313	Missense	-	-	UniProt
EDNRB	P24530	p.Ile138Val	rs1221743247	missense variant	-	NC_000013.11:g.77918162T>C	gnomAD
EDNRB	P24530	p.Leu139Phe	rs371558629	missense variant	-	NC_000013.11:g.77918157C>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu139Val	rs143042375	missense variant	-	NC_000013.11:g.77918159A>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu139Phe	rs371558629	missense variant	-	NC_000013.11:g.77918157C>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile140Met	rs1046390473	missense variant	-	NC_000013.11:g.77918154G>C	TOPMed
EDNRB	P24530	p.Ala141Thr	rs762880632	missense variant	-	NC_000013.11:g.77918153C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala141Ser	rs762880632	missense variant	-	NC_000013.11:g.77918153C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly146Ala	rs1336072126	missense variant	-	NC_000013.11:g.77918137C>G	gnomAD
EDNRB	P24530	p.His150Leu	rs1399198786	missense variant	-	NC_000013.11:g.77918125T>A	gnomAD
EDNRB	P24530	p.Ile151Val	rs769924328	missense variant	-	NC_000013.11:g.77918123T>C	ExAC,gnomAD
EDNRB	P24530	p.Ile153Thr	rs1159624775	missense variant	-	NC_000013.11:g.77918116A>G	gnomAD
EDNRB	P24530	p.Asp154Gly	rs746343092	missense variant	-	NC_000013.11:g.77918113T>C	ExAC,gnomAD
EDNRB	P24530	p.Pro156Arg	VAR_078314	Missense	-	-	UniProt
EDNRB	P24530	p.Ile157Val	rs368159798	missense variant	-	NC_000013.11:g.77918105T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly170Arg	rs1339942721	missense variant	-	NC_000013.11:g.77903583C>T	gnomAD
EDNRB	P24530	p.Glu172Gln	rs1402105082	missense variant	-	NC_000013.11:g.77903577C>G	gnomAD
EDNRB	P24530	p.Glu172Ala	rs778187586	missense variant	-	NC_000013.11:g.77903576T>G	ExAC,gnomAD
EDNRB	P24530	p.Glu172Asp	rs772385532	missense variant	-	NC_000013.11:g.77903575C>G	ExAC,gnomAD
EDNRB	P24530	p.Cys174Ter	RCV000659494	frameshift	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903570del	ClinVar
EDNRB	P24530	p.Leu176Val	rs143312578	missense variant	-	NC_000013.11:g.77903565G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val177Leu	rs1168969805	missense variant	-	NC_000013.11:g.77903562C>A	gnomAD
EDNRB	P24530	p.Pro178Thr	rs201311945	missense variant	-	NC_000013.11:g.77903559G>T	ExAC,gnomAD
EDNRB	P24530	p.Ile180Met	rs759131722	missense variant	-	NC_000013.11:g.77903551T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile180Leu	rs1423762419	missense variant	-	NC_000013.11:g.77903553T>G	gnomAD
EDNRB	P24530	p.Gln181Glu	rs1479241351	missense variant	-	NC_000013.11:g.77903550G>C	gnomAD
EDNRB	P24530	p.Ala183Gly	rs104894388	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt,dbSNP
EDNRB	P24530	p.Ala183Gly	VAR_003470	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt
EDNRB	P24530	p.Ala183Gly	rs104894388	missense variant	-	NC_000013.11:g.77903543G>C	-
EDNRB	P24530	p.Ala183Gly	RCV000018114	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903543G>C	ClinVar
EDNRB	P24530	p.Ser184Pro	rs1555290659	missense variant	-	NC_000013.11:g.77903541A>G	-
EDNRB	P24530	p.Ser184Pro	RCV000659495	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903541A>G	ClinVar
EDNRB	P24530	p.Val185Met	rs781214034	missense variant	-	NC_000013.11:g.77903538C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val185Met	RCV000758016	missense variant	Total intestinal aganglionosis	NC_000013.11:g.77903538C>T	ClinVar
EDNRB	P24530	p.Ser191Cys	rs1013425803	missense variant	-	NC_000013.11:g.77903520T>A	TOPMed,gnomAD
EDNRB	P24530	p.Ala194Val	rs751513574	missense variant	-	NC_000013.11:g.77903510G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg199Gly	rs1258768009	missense variant	-	NC_000013.11:g.77903496T>C	gnomAD
EDNRB	P24530	p.Arg201Ter	RCV000659496	nonsense	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903356G>A	ClinVar
EDNRB	P24530	p.Arg201Pro	rs780841273	missense variant	-	NC_000013.11:g.77903355C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Gln	rs780841273	missense variant	-	NC_000013.11:g.77903355C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Ter	rs104894391	stop gained	Abcd syndrome (abcds)	NC_000013.11:g.77903356G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Ter	RCV000018120	nonsense	ABCD syndrome (ABCDS)	NC_000013.11:g.77903356G>A	ClinVar
EDNRB	P24530	p.Ala202Val	rs1354645639	missense variant	-	NC_000013.11:g.77903352G>A	TOPMed
EDNRB	P24530	p.Val203Ile	rs202068468	missense variant	-	NC_000013.11:g.77903350C>T	ExAC,gnomAD
EDNRB	P24530	p.Val203Phe	rs202068468	missense variant	-	NC_000013.11:g.77903350C>A	ExAC,gnomAD
EDNRB	P24530	p.Val203Leu	rs202068468	missense variant	-	NC_000013.11:g.77903350C>G	ExAC,gnomAD
EDNRB	P24530	p.Trp206Ter	RCV000221133	nonsense	Rare genetic deafness	NC_000013.11:g.77903339C>T	ClinVar
EDNRB	P24530	p.Trp206Ter	rs876657688	stop gained	-	NC_000013.11:g.77903339C>T	gnomAD
EDNRB	P24530	p.Trp206Arg	rs1410186437	missense variant	-	NC_000013.11:g.77903341A>G	TOPMed
EDNRB	P24530	p.Ser207Asn	rs746941725	missense variant	-	NC_000013.11:g.77903337C>T	ExAC,gnomAD
EDNRB	P24530	p.Arg208Lys	rs1361744218	missense variant	-	NC_000013.11:g.77903334C>T	gnomAD
EDNRB	P24530	p.Gly211Val	rs752251497	missense variant	-	NC_000013.11:g.77903325C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly211Arg	rs932422479	missense variant	-	NC_000013.11:g.77903326C>T	TOPMed
EDNRB	P24530	p.Ile212Thr	rs1382035452	missense variant	-	NC_000013.11:g.77903322A>G	TOPMed,gnomAD
EDNRB	P24530	p.Val214Ile	rs1440733865	missense variant	-	NC_000013.11:g.77903317C>T	gnomAD
EDNRB	P24530	p.Trp217Leu	rs1255586825	missense variant	-	NC_000013.11:g.77903307C>A	TOPMed,gnomAD
EDNRB	P24530	p.Thr218Ile	rs1201160161	missense variant	-	NC_000013.11:g.77903304G>A	gnomAD
EDNRB	P24530	p.Leu224Ser	rs754126689	missense variant	-	NC_000013.11:g.77903286A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile225Thr	rs766452784	missense variant	-	NC_000013.11:g.77903283A>G	ExAC,gnomAD
EDNRB	P24530	p.Trp226_Ser442del	VAR_078315	inframe_deletion	-	-	UniProt
EDNRB	P24530	p.Val227Met	rs1312043256	missense variant	-	NC_000013.11:g.77903278C>T	TOPMed,gnomAD
EDNRB	P24530	p.Val228Ala	rs1334210764	missense variant	-	NC_000013.11:g.77903274A>G	gnomAD
EDNRB	P24530	p.Val228Phe	rs1340452566	missense variant	-	NC_000013.11:g.77903275C>A	gnomAD
EDNRB	P24530	p.Ala233Gly	rs1397335747	missense variant	-	NC_000013.11:g.77903259G>C	gnomAD
EDNRB	P24530	p.Ile238Val	rs767943900	missense variant	-	NC_000013.11:g.77903245T>C	ExAC,gnomAD
EDNRB	P24530	p.Ile238Thr	rs1420013932	missense variant	-	NC_000013.11:g.77903244A>G	gnomAD
EDNRB	P24530	p.Gly239Ser	rs973740703	missense variant	-	NC_000013.11:g.77903242C>T	TOPMed,gnomAD
EDNRB	P24530	p.Gly239Arg	rs973740703	missense variant	-	NC_000013.11:g.77903242C>G	TOPMed,gnomAD
EDNRB	P24530	p.Asp241Ala	rs201625400	missense variant	-	NC_000013.11:g.77903235T>G	ExAC,gnomAD
EDNRB	P24530	p.Asp241Asn	rs762204581	missense variant	-	NC_000013.11:g.77903236C>T	ExAC,gnomAD
EDNRB	P24530	p.Thr244Met	RCV000325008	missense variant	Waardenburg syndrome	NC_000013.11:g.77903226G>A	ClinVar
EDNRB	P24530	p.Thr244Met	rs5350	missense variant	-	NC_000013.11:g.77903226G>A	UniProt,dbSNP
EDNRB	P24530	p.Thr244Met	VAR_014678	missense variant	-	NC_000013.11:g.77903226G>A	UniProt
EDNRB	P24530	p.Thr244Met	rs5350	missense variant	-	NC_000013.11:g.77903226G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr244Met	RCV000381908	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77903226G>A	ClinVar
EDNRB	P24530	p.Met245Thr	rs1216200131	missense variant	-	NC_000013.11:g.77903223A>G	TOPMed,gnomAD
EDNRB	P24530	p.Met245Lys	rs1216200131	missense variant	-	NC_000013.11:g.77903223A>T	TOPMed,gnomAD
EDNRB	P24530	p.Met245Ile	rs776468186	missense variant	-	NC_000013.11:g.77903222C>T	ExAC,gnomAD
EDNRB	P24530	p.Asp246Gly	rs371218105	missense variant	-	NC_000013.11:g.77903220T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asp246Asn	rs1288566827	missense variant	-	NC_000013.11:g.77903221C>T	gnomAD
EDNRB	P24530	p.Tyr247Cys	rs200272603	missense variant	-	NC_000013.11:g.77903217T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys248Thr	rs777697952	missense variant	-	NC_000013.11:g.77903214T>G	ExAC,gnomAD
EDNRB	P24530	p.Lys248Asn	rs758280131	missense variant	-	NC_000013.11:g.77903213T>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly249Arg	rs748143676	missense variant	-	NC_000013.11:g.77903212C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser250Gly	rs199521140	missense variant	-	NC_000013.11:g.77903209T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser250Ile	rs754807912	missense variant	-	NC_000013.11:g.77903208C>A	ExAC,gnomAD
EDNRB	P24530	p.Leu252Pro	rs754040927	missense variant	-	NC_000013.11:g.77903202A>G	ExAC,gnomAD
EDNRB	P24530	p.Arg253Gln	rs140514830	missense variant	-	NC_000013.11:g.77903199C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg253Ter	rs104894390	stop gained	-	NC_000013.11:g.77903200G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg253Gln	RCV000603036	missense variant	-	NC_000013.11:g.77903199C>T	ClinVar
EDNRB	P24530	p.Arg253Ter	RCV000018119	nonsense	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903200G>A	ClinVar
EDNRB	P24530	p.Ile254Thr	rs371057149	missense variant	-	NC_000013.11:g.77903196A>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile254Asn	rs371057149	missense variant	-	NC_000013.11:g.77903196A>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile254Leu	rs750477425	missense variant	-	NC_000013.11:g.77903197T>G	ExAC,gnomAD
EDNRB	P24530	p.His258Gln	rs752147666	missense variant	-	NC_000013.11:g.77903183A>T	ExAC,gnomAD
EDNRB	P24530	p.His258Asp	rs368940609	missense variant	-	NC_000013.11:g.77903185G>C	ESP,ExAC,gnomAD
EDNRB	P24530	p.His258Tyr	rs368940609	missense variant	-	NC_000013.11:g.77903185G>A	ESP,ExAC,gnomAD
EDNRB	P24530	p.Pro259Ser	rs200431358	missense variant	-	NC_000013.11:g.77903182G>A	ExAC,gnomAD
EDNRB	P24530	p.Pro259Arg	rs1265700652	missense variant	-	NC_000013.11:g.77903181G>C	gnomAD
EDNRB	P24530	p.Val260Gly	rs1220991715	missense variant	-	NC_000013.11:g.77903178A>C	TOPMed
EDNRB	P24530	p.Val260Ile	rs77132068	missense variant	-	NC_000013.11:g.77903179C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val260Phe	rs77132068	missense variant	-	NC_000013.11:g.77903179C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val260Ile	RCV000839975	missense variant	-	NC_000013.11:g.77903179C>T	ClinVar
EDNRB	P24530	p.Val260Ile	RCV000614742	missense variant	-	NC_000013.11:g.77903179C>T	ClinVar
EDNRB	P24530	p.Thr263Ala	rs1347740196	missense variant	-	NC_000013.11:g.77903170T>C	TOPMed
EDNRB	P24530	p.Ala264Val	rs1212186974	missense variant	-	NC_000013.11:g.77903166G>A	TOPMed,gnomAD
EDNRB	P24530	p.Ala264Val	RCV000660537	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903166G>A	ClinVar
EDNRB	P24530	p.Phe268Leu	rs1332382690	missense variant	-	NC_000013.11:g.77901207A>G	gnomAD
EDNRB	P24530	p.Lys270Gln	rs771549175	missense variant	-	NC_000013.11:g.77901201T>G	ExAC,gnomAD
EDNRB	P24530	p.Thr271Ala	rs1485754365	missense variant	-	NC_000013.11:g.77901198T>C	TOPMed
EDNRB	P24530	p.Asp274Asn	rs199937989	missense variant	-	NC_000013.11:g.77901189C>T	ExAC,gnomAD
EDNRB	P24530	p.Asp274Gly	rs142295388	missense variant	-	NC_000013.11:g.77901188T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asp274Tyr	rs199937989	missense variant	-	NC_000013.11:g.77901189C>A	ExAC,gnomAD
EDNRB	P24530	p.Asp274Val	rs142295388	missense variant	-	NC_000013.11:g.77901188T>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Trp275Ter	RCV000018115	nonsense	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901185C>T	ClinVar
EDNRB	P24530	p.Trp275Gly	rs1422704119	missense variant	-	NC_000013.11:g.77901186A>C	TOPMed
EDNRB	P24530	p.Trp275Ser	rs104894389	missense variant	-	NC_000013.11:g.77901185C>G	ExAC,gnomAD
EDNRB	P24530	p.Trp275Ter	rs104894389	stop gained	-	NC_000013.11:g.77901185C>T	ExAC,gnomAD
EDNRB	P24530	p.Trp276Cys	RCV000018112	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	ClinVar
EDNRB	P24530	p.Trp276Cys	rs104894387	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt,dbSNP
EDNRB	P24530	p.Trp276Cys	VAR_003471	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt
EDNRB	P24530	p.Trp276Cys	rs104894387	missense variant	-	NC_000013.11:g.77901181C>A	ESP,TOPMed,gnomAD
EDNRB	P24530	p.Ser279Thr	rs746051328	missense variant	-	NC_000013.11:g.77901173C>G	ExAC,gnomAD
EDNRB	P24530	p.Ser279Asn	rs746051328	missense variant	-	NC_000013.11:g.77901173C>T	ExAC,gnomAD
EDNRB	P24530	p.Phe291Leu	rs1280369607	missense variant	-	NC_000013.11:g.77901138A>G	gnomAD
EDNRB	P24530	p.Phe292Leu	VAR_015294	Missense	Waardenburg syndrome 4A (WS4A) [MIM:277580]	-	UniProt
EDNRB	P24530	p.Tyr293Ter	RCV000018116	frameshift	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901138dup	ClinVar
EDNRB	P24530	p.Tyr293Ter	rs1064797177	stop gained	-	NC_000013.11:g.77901131dup	-
EDNRB	P24530	p.Tyr293His	rs1352720092	missense variant	-	NC_000013.11:g.77901132A>G	gnomAD
EDNRB	P24530	p.Tyr293Ter	RCV000487897	nonsense	-	NC_000013.11:g.77901131dup	ClinVar
EDNRB	P24530	p.Thr294Ter	RCV000513371	frameshift	-	NC_000013.11:g.77901130dup	ClinVar
EDNRB	P24530	p.Thr294Ile	rs758958773	missense variant	-	NC_000013.11:g.77901128G>A	ExAC,gnomAD
EDNRB	P24530	p.Met296Leu	rs765490586	missense variant	-	NC_000013.11:g.77901123T>A	ExAC
EDNRB	P24530	p.Leu301Ser	rs112067501	missense variant	-	NC_000013.11:g.77901107A>G	gnomAD
EDNRB	P24530	p.Leu301Ter	rs112067501	stop gained	-	NC_000013.11:g.77901107A>T	gnomAD
EDNRB	P24530	p.Arg302Lys	rs1415699054	missense variant	-	NC_000013.11:g.77901104C>T	TOPMed
EDNRB	P24530	p.Lys303Arg	rs1336420198	missense variant	-	NC_000013.11:g.77901101T>C	gnomAD
EDNRB	P24530	p.Lys304Ile	rs376098154	missense variant	-	NC_000013.11:g.77901098T>A	ESP,ExAC,gnomAD
EDNRB	P24530	p.Lys304Asn	rs749996130	missense variant	-	NC_000013.11:g.77901097T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser305Asn	rs5352	missense variant	-	NC_000013.11:g.77901095C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser305Asn	rs5352	missense variant	-	NC_000013.11:g.77901095C>T	UniProt,dbSNP
EDNRB	P24530	p.Ser305Asn	VAR_003472	missense variant	-	NC_000013.11:g.77901095C>T	UniProt
EDNRB	P24530	p.Ser305Asn	RCV000018118	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901095C>T	ClinVar
EDNRB	P24530	p.Gln308Lys	rs199558894	missense variant	-	NC_000013.11:g.77901087G>T	ExAC,gnomAD
EDNRB	P24530	p.Ala310Thr	rs944500117	missense variant	-	NC_000013.11:g.77901081C>T	TOPMed
EDNRB	P24530	p.Asp313Asn	rs907722017	missense variant	-	NC_000013.11:g.77901072C>T	TOPMed
EDNRB	P24530	p.Asp313Tyr	rs907722017	missense variant	-	NC_000013.11:g.77901072C>A	TOPMed
EDNRB	P24530	p.Lys316Arg	rs1238777762	missense variant	-	NC_000013.11:g.77901062T>C	gnomAD
EDNRB	P24530	p.Arg319Trp	rs200363611	missense variant	-	NC_000013.11:g.77900651G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg319Gln	rs759543922	missense variant	-	NC_000013.11:g.77900650C>T	ExAC,gnomAD
EDNRB	P24530	p.Arg319Leu	rs759543922	missense variant	-	NC_000013.11:g.77900650C>A	ExAC,gnomAD
EDNRB	P24530	p.Ala322Val	rs1233747891	missense variant	-	NC_000013.11:g.77900641G>A	gnomAD
EDNRB	P24530	p.Val325Ile	rs201437745	missense variant	-	NC_000013.11:g.77900633C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val325Ile	RCV000659498	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77900633C>T	ClinVar
EDNRB	P24530	p.Leu328Met	rs1216944717	missense variant	-	NC_000013.11:g.77900624G>T	gnomAD
EDNRB	P24530	p.Val331Leu	rs1340103087	missense variant	-	NC_000013.11:g.77900615C>G	gnomAD
EDNRB	P24530	p.Ala333Val	rs1279092107	missense variant	-	NC_000013.11:g.77900608G>A	gnomAD
EDNRB	P24530	p.Pro338Leu	RCV000758015	missense variant	Total intestinal aganglionosis	NC_000013.11:g.77900593G>A	ClinVar
EDNRB	P24530	p.Lys346Arg	rs1162021124	missense variant	-	NC_000013.11:g.77900569T>C	TOPMed
EDNRB	P24530	p.Thr348Ser	rs776554067	missense variant	-	NC_000013.11:g.77900564T>A	ExAC,gnomAD
EDNRB	P24530	p.Leu349Phe	rs1293406077	missense variant	-	NC_000013.11:g.77900561G>A	gnomAD
EDNRB	P24530	p.Asn351Lys	rs1437781516	missense variant	-	NC_000013.11:g.77900553A>T	gnomAD
EDNRB	P24530	p.Asn351Asp	rs1335692950	missense variant	-	NC_000013.11:g.77900555T>C	gnomAD
EDNRB	P24530	p.Gln352Arg	rs1397373759	missense variant	-	NC_000013.11:g.77900551T>C	TOPMed,gnomAD
EDNRB	P24530	p.Asn353Lys	rs1167913825	missense variant	-	NC_000013.11:g.77900547A>C	gnomAD
EDNRB	P24530	p.Leu360His	rs1295402804	missense variant	-	NC_000013.11:g.77900527A>T	gnomAD
EDNRB	P24530	p.Ser362Arg	rs369090616	missense variant	-	NC_000013.11:g.77900522T>G	TOPMed,gnomAD
EDNRB	P24530	p.Leu364Val	rs180686892	missense variant	-	NC_000013.11:g.77899963G>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu364Met	rs180686892	missense variant	-	NC_000013.11:g.77899963G>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr369Phe	rs202171748	missense variant	-	NC_000013.11:g.77899947T>A	TOPMed
EDNRB	P24530	p.Ile370Thr	rs1455429720	missense variant	-	NC_000013.11:g.77899944A>G	gnomAD
EDNRB	P24530	p.Gly371Ser	rs202153354	missense variant	-	NC_000013.11:g.77899942C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly371Cys	rs202153354	missense variant	-	NC_000013.11:g.77899942C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Met374Ile	VAR_003474	Missense	Hirschsprung disease 2 (HSCR2) [MIM:600155]	-	UniProt
EDNRB	P24530	p.Leu377Val	rs1177969210	missense variant	-	NC_000013.11:g.77899924G>C	gnomAD
EDNRB	P24530	p.Cys380Ser	rs200939685	missense variant	-	NC_000013.11:g.77899914C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys380Ser	RCV000260247	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77899914C>G	ClinVar
EDNRB	P24530	p.Cys380Ser	RCV000299186	missense variant	Waardenburg syndrome	NC_000013.11:g.77899914C>G	ClinVar
EDNRB	P24530	p.Ile381Val	rs1197671529	missense variant	-	NC_000013.11:g.77899912T>C	gnomAD
EDNRB	P24530	p.Pro383Leu	VAR_003475	Missense	Hirschsprung disease 2 (HSCR2) [MIM:600155]	-	UniProt
EDNRB	P24530	p.Ile384Val	rs567578805	missense variant	-	NC_000013.11:g.77899903T>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys391Gln	rs1466632176	missense variant	-	NC_000013.11:g.77899882T>G	TOPMed
EDNRB	P24530	p.Lys391Arg	rs773530703	missense variant	-	NC_000013.11:g.77899881T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Phe393Leu	rs772345263	missense variant	-	NC_000013.11:g.77899874G>C	ExAC,gnomAD
EDNRB	P24530	p.Phe397Tyr	rs1396007412	missense variant	-	NC_000013.11:g.77899863A>T	TOPMed
EDNRB	P24530	p.Phe397Val	rs1378362046	missense variant	-	NC_000013.11:g.77899864A>C	TOPMed,gnomAD
EDNRB	P24530	p.Ser399Pro	rs750260325	missense variant	-	NC_000013.11:g.77898334A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser399Thr	rs750260325	missense variant	-	NC_000013.11:g.77898334A>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys400Trp	rs1312925422	missense variant	-	NC_000013.11:g.77898329G>C	TOPMed,gnomAD
EDNRB	P24530	p.Leu401Phe	rs1364508724	missense variant	-	NC_000013.11:g.77898326T>G	TOPMed
EDNRB	P24530	p.Trp404Ter	rs767275433	stop gained	-	NC_000013.11:g.77898318C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Phe408Leu	rs1297352198	missense variant	-	NC_000013.11:g.77898307A>G	gnomAD
EDNRB	P24530	p.Ser413Phe	rs1319801057	missense variant	-	NC_000013.11:g.77898291G>A	TOPMed
EDNRB	P24530	p.Ser413Thr	rs762094666	missense variant	-	NC_000013.11:g.77898292A>T	ExAC,gnomAD
EDNRB	P24530	p.Ser419Leu	rs200548885	missense variant	-	NC_000013.11:g.77898273G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys422Glu	rs200720978	missense variant	-	NC_000013.11:g.77898265T>C	ExAC,gnomAD
EDNRB	P24530	p.Lys422Asn	rs1375298638	missense variant	-	NC_000013.11:g.77898263C>G	gnomAD
EDNRB	P24530	p.Lys424Glu	rs1359074336	missense variant	-	NC_000013.11:g.77898259T>C	TOPMed
EDNRB	P24530	p.Ala425Pro	rs771239282	missense variant	-	NC_000013.11:g.77898256C>G	ExAC,gnomAD
EDNRB	P24530	p.Asn426Lys	rs747813758	missense variant	-	NC_000013.11:g.77898251A>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn426Asp	rs1217607090	missense variant	-	NC_000013.11:g.77898253T>C	TOPMed
EDNRB	P24530	p.Asp427Gly	rs778453066	missense variant	-	NC_000013.11:g.77898249T>C	ExAC,gnomAD
EDNRB	P24530	p.His428Tyr	rs1215746671	missense variant	-	NC_000013.11:g.77898247G>A	TOPMed
EDNRB	P24530	p.His428Gln	rs754498240	missense variant	-	NC_000013.11:g.77898245G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.His428Arg	rs1238508690	missense variant	-	NC_000013.11:g.77898246T>C	TOPMed
EDNRB	P24530	p.Gly429Glu	rs1315670514	missense variant	-	NC_000013.11:g.77898243C>T	gnomAD
EDNRB	P24530	p.Gly429Arg	RCV000402655	missense variant	Waardenburg syndrome	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	RCV000220584	missense variant	-	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	RCV000310434	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	rs144565124	missense variant	-	NC_000013.11:g.77898244C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr430His	rs568662694	missense variant	-	NC_000013.11:g.77898241A>G	1000Genomes,ExAC,gnomAD
EDNRB	P24530	p.Arg434Ser	rs750396591	missense variant	-	NC_000013.11:g.77898229G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg434Cys	rs750396591	missense variant	-	NC_000013.11:g.77898229G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg434His	rs201243241	missense variant	-	NC_000013.11:g.77898228C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser435Tyr	rs757021438	missense variant	-	NC_000013.11:g.77898225G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser435Phe	rs757021438	missense variant	-	NC_000013.11:g.77898225G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser436Gly	rs751760790	missense variant	-	NC_000013.11:g.77898223T>C	ExAC,gnomAD
EDNRB	P24530	p.Ser436Thr	rs764302607	missense variant	-	NC_000013.11:g.77898222C>G	ExAC,gnomAD
EDNRB	P24530	p.Ser441Leu	rs762959381	missense variant	-	NC_000013.11:g.77898207G>A	ExAC,gnomAD
EDNRB	P24530	p.Gln2Arg	rs1468720481	missense variant	-	NC_000013.11:g.77918569T>C	gnomAD
EDNRB	P24530	p.Gln2His	rs1406054889	missense variant	-	NC_000013.11:g.77918568C>A	gnomAD
EDNRB	P24530	p.Pro3Leu	rs200047993	missense variant	-	NC_000013.11:g.77918566G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro4Ala	rs777992864	missense variant	-	NC_000013.11:g.77918564G>C	ExAC,gnomAD
EDNRB	P24530	p.Pro5Thr	rs12720160	missense variant	-	NC_000013.11:g.77918561G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu7Gln	rs5345	missense variant	-	NC_000013.11:g.77918554A>T	-
EDNRB	P24530	p.Leu7Gln	rs5345	missense variant	-	NC_000013.11:g.77918554A>T	UniProt,dbSNP
EDNRB	P24530	p.Leu7Gln	VAR_014675	missense variant	-	NC_000013.11:g.77918554A>T	UniProt
EDNRB	P24530	p.Leu7Met	rs1239813325	missense variant	-	NC_000013.11:g.77918555G>T	gnomAD
EDNRB	P24530	p.Cys8Gly	rs765870134	missense variant	-	NC_000013.11:g.77918552A>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg10Cys	rs1204381719	missense variant	-	NC_000013.11:g.77918546G>A	gnomAD
EDNRB	P24530	p.Ala11Val	rs754162462	missense variant	-	NC_000013.11:g.77918542G>A	ExAC,gnomAD
EDNRB	P24530	p.Ala14Gly	rs548023225	missense variant	-	NC_000013.11:g.77918533G>C	1000Genomes,TOPMed
EDNRB	P24530	p.Ala14Val	rs548023225	missense variant	-	NC_000013.11:g.77918533G>A	1000Genomes,TOPMed
EDNRB	P24530	p.Val16Phe	rs142767792	missense variant	-	NC_000013.11:g.77918528C>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val16Leu	rs142767792	missense variant	-	NC_000013.11:g.77918528C>G	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu17Phe	rs5346	missense variant	-	NC_000013.11:g.77918525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu17Phe	rs5346	missense variant	-	NC_000013.11:g.77918525G>A	UniProt,dbSNP
EDNRB	P24530	p.Leu17Phe	VAR_014676	missense variant	-	NC_000013.11:g.77918525G>A	UniProt
EDNRB	P24530	p.Leu17Phe	RCV000404231	missense variant	Waardenburg syndrome	NC_000013.11:g.77918525G>A	ClinVar
EDNRB	P24530	p.Leu17Phe	RCV000297140	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77918525G>A	ClinVar
EDNRB	P24530	p.Leu17Pro	VAR_078312	Missense	-	-	UniProt
EDNRB	P24530	p.Gly20Ser	rs762469442	missense variant	-	NC_000013.11:g.77918516C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser22Ala	rs1382140942	missense variant	-	NC_000013.11:g.77918510A>C	gnomAD
EDNRB	P24530	p.Arg23Trp	rs769618877	missense variant	-	NC_000013.11:g.77918507G>A	ExAC,gnomAD
EDNRB	P24530	p.Gly26Arg	rs1235599209	missense variant	-	NC_000013.11:g.77918498C>T	gnomAD
EDNRB	P24530	p.Gly30Asp	rs551739242	missense variant	-	NC_000013.11:g.77918485C>T	1000Genomes,ExAC,gnomAD
EDNRB	P24530	p.Pro32Ser	rs200723251	missense variant	-	NC_000013.11:g.77918480G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asp34Glu	rs149740482	missense variant	-	NC_000013.11:g.77918472G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg35Thr	rs1259767883	missense variant	-	NC_000013.11:g.77918470C>G	gnomAD
EDNRB	P24530	p.Ala36Ser	rs1354646550	missense variant	-	NC_000013.11:g.77918468C>A	gnomAD
EDNRB	P24530	p.Ala36Asp	rs752856831	missense variant	-	NC_000013.11:g.77918467G>T	ExAC
EDNRB	P24530	p.Thr37Ile	rs1288505904	missense variant	-	NC_000013.11:g.77918464G>A	gnomAD
EDNRB	P24530	p.Pro38Leu	rs779495524	missense variant	-	NC_000013.11:g.77918461G>A	ExAC,gnomAD
EDNRB	P24530	p.Ala43Ser	rs200304077	missense variant	-	NC_000013.11:g.77918447C>A	gnomAD
EDNRB	P24530	p.Glu44Val	rs755457512	missense variant	-	NC_000013.11:g.77918443T>A	ExAC
EDNRB	P24530	p.Glu44Asp	rs1401360436	missense variant	-	NC_000013.11:g.77918442C>A	TOPMed
EDNRB	P24530	p.Ile45Thr	rs990292887	missense variant	-	NC_000013.11:g.77918440A>G	TOPMed
EDNRB	P24530	p.Thr47Lys	rs1316261633	missense variant	-	NC_000013.11:g.77918434G>T	gnomAD
EDNRB	P24530	p.Pro48Leu	rs538237989	missense variant	-	NC_000013.11:g.77918431G>A	1000Genomes,TOPMed
EDNRB	P24530	p.Thr52Ile	rs139997339	missense variant	-	NC_000013.11:g.77918419G>A	ESP,TOPMed
EDNRB	P24530	p.Leu53Ser	rs766651046	missense variant	-	NC_000013.11:g.77918416A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Trp54Arg	rs1362059171	missense variant	-	NC_000013.11:g.77918414A>G	gnomAD
EDNRB	P24530	p.Pro55Arg	rs751161032	missense variant	-	NC_000013.11:g.77918410G>C	ExAC,gnomAD
EDNRB	P24530	p.Lys56Thr	rs763764641	missense variant	-	NC_000013.11:g.77918407T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly57Ser	rs1801710	missense variant	-	NC_000013.11:g.77918405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly57Ser	RCV000018117	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77918405C>T	ClinVar
EDNRB	P24530	p.Ala60Pro	rs142569954	missense variant	-	NC_000013.11:g.77918396C>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala60Thr	rs142569954	missense variant	-	NC_000013.11:g.77918396C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Gly	rs139147111	missense variant	-	NC_000013.11:g.77918384G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Pro	rs201002254	missense variant	-	NC_000013.11:g.77918383C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Trp	rs139147111	missense variant	-	NC_000013.11:g.77918384G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg64Leu	rs201002254	missense variant	-	NC_000013.11:g.77918383C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro68Leu	rs201737510	missense variant	-	NC_000013.11:g.77918371G>A	TOPMed
EDNRB	P24530	p.Pro68Leu	RCV000606747	missense variant	-	NC_000013.11:g.77918371G>A	ClinVar
EDNRB	P24530	p.Ala69Val	rs1019947807	missense variant	-	NC_000013.11:g.77918368G>A	TOPMed
EDNRB	P24530	p.Glu70Lys	rs748181676	missense variant	-	NC_000013.11:g.77918366C>T	ExAC,gnomAD
EDNRB	P24530	p.Val71Ter	RCV000627620	frameshift	-	NC_000013.11:g.77918355_77918367del	ClinVar
EDNRB	P24530	p.Pro72Ser	rs150750272	missense variant	-	NC_000013.11:g.77918360G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys73Glu	rs201488838	missense variant	-	NC_000013.11:g.77918357T>C	1000Genomes
EDNRB	P24530	p.Asp75Asn	rs1230438816	missense variant	-	NC_000013.11:g.77918351C>T	gnomAD
EDNRB	P24530	p.Arg76Met	rs2228271	missense variant	-	NC_000013.11:g.77918347C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg76Gly	rs201207916	missense variant	-	NC_000013.11:g.77918348T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg76Trp	rs201207916	missense variant	-	NC_000013.11:g.77918348T>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr77Met	rs1227502849	missense variant	-	NC_000013.11:g.77918344G>A	TOPMed,gnomAD
EDNRB	P24530	p.Thr77Arg	rs1227502849	missense variant	-	NC_000013.11:g.77918344G>C	TOPMed,gnomAD
EDNRB	P24530	p.Gly79Ala	rs1280900661	missense variant	-	NC_000013.11:g.77918338C>G	TOPMed,gnomAD
EDNRB	P24530	p.Gly79Glu	rs1280900661	missense variant	-	NC_000013.11:g.77918338C>T	TOPMed,gnomAD
EDNRB	P24530	p.Ser80Phe	rs1403988440	missense variant	-	NC_000013.11:g.77918335G>A	gnomAD
EDNRB	P24530	p.Pro81Leu	rs756427784	missense variant	-	NC_000013.11:g.77918332G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg83Cys	rs771230818	missense variant	-	NC_000013.11:g.77918327G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr84Ile	rs752412963	missense variant	-	NC_000013.11:g.77918323G>A	ExAC,gnomAD
EDNRB	P24530	p.Thr84Asn	rs752412963	missense variant	-	NC_000013.11:g.77918323G>T	ExAC,gnomAD
EDNRB	P24530	p.Pro87Ser	rs759133540	missense variant	-	NC_000013.11:g.77918315G>A	ExAC,gnomAD
EDNRB	P24530	p.Pro87His	rs1425908419	missense variant	-	NC_000013.11:g.77918314G>T	gnomAD
EDNRB	P24530	p.Pro88Ala	rs1410175049	missense variant	-	NC_000013.11:g.77918312G>C	TOPMed,gnomAD
EDNRB	P24530	p.Pro88Leu	rs200756568	missense variant	-	NC_000013.11:g.77918311G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Pro89Arg	rs1028136288	missense variant	-	NC_000013.11:g.77918308G>C	TOPMed,gnomAD
EDNRB	P24530	p.Gly92Glu	rs148189360	missense variant	-	NC_000013.11:g.77918299C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile94Ser	rs1235006032	missense variant	-	NC_000013.11:g.77918293A>C	TOPMed
EDNRB	P24530	p.Ile94Val	rs772055405	missense variant	-	NC_000013.11:g.77918294T>C	ExAC,gnomAD
EDNRB	P24530	p.Glu95Gln	rs1282405488	missense variant	-	NC_000013.11:g.77918291C>G	TOPMed
EDNRB	P24530	p.Glu95Val	rs774676772	missense variant	-	NC_000013.11:g.77918290T>A	ExAC,gnomAD
EDNRB	P24530	p.Lys97Glu	rs1280780830	missense variant	-	NC_000013.11:g.77918285T>C	gnomAD
EDNRB	P24530	p.Thr99Pro	rs768598369	missense variant	-	NC_000013.11:g.77918279T>G	ExAC,gnomAD
EDNRB	P24530	p.Tyr102Ter	rs1064797178	stop gained	-	NC_000013.11:g.77918268G>T	gnomAD
EDNRB	P24530	p.Tyr102Ter	RCV000657773	nonsense	-	NC_000013.11:g.77918268G>T	ClinVar
EDNRB	P24530	p.Ile103Val	rs894919134	missense variant	-	NC_000013.11:g.77918267T>C	TOPMed
EDNRB	P24530	p.Asn104Ile	rs780355308	missense variant	-	NC_000013.11:g.77918263T>A	ExAC,gnomAD
EDNRB	P24530	p.Asn104Ser	rs780355308	missense variant	-	NC_000013.11:g.77918263T>C	ExAC,gnomAD
EDNRB	P24530	p.Thr105Met	rs368400131	missense variant	-	NC_000013.11:g.77918260G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys109Ter	RCV000778401	frameshift	EDNRB-Related Disorders	NC_000013.11:g.77918248del	ClinVar
EDNRB	P24530	p.Leu110Val	rs1180581930	missense variant	-	NC_000013.11:g.77918246G>C	TOPMed
EDNRB	P24530	p.Val111Glu	rs1467139505	missense variant	-	NC_000013.11:g.77918242A>T	gnomAD
EDNRB	P24530	p.Phe112Val	rs5347	missense variant	-	NC_000013.11:g.77918240A>C	-
EDNRB	P24530	p.Phe112Val	rs5347	missense variant	-	NC_000013.11:g.77918240A>C	UniProt,dbSNP
EDNRB	P24530	p.Phe112Val	VAR_014677	missense variant	-	NC_000013.11:g.77918240A>C	UniProt
EDNRB	P24530	p.Val113Met	rs781532939	missense variant	-	NC_000013.11:g.77918237C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val113Leu	rs781532939	missense variant	-	NC_000013.11:g.77918237C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu114Pro	rs752268531	missense variant	-	NC_000013.11:g.77918233A>G	ExAC,gnomAD
EDNRB	P24530	p.Gly115Glu	rs1555291991	missense variant	-	NC_000013.11:g.77918230C>T	-
EDNRB	P24530	p.Gly115Glu	RCV000521877	missense variant	-	NC_000013.11:g.77918230C>T	ClinVar
EDNRB	P24530	p.Ile116Thr	rs559289370	missense variant	-	NC_000013.11:g.77918227A>G	1000Genomes
EDNRB	P24530	p.Ile117Leu	rs1439177895	missense variant	-	NC_000013.11:g.77918225T>G	TOPMed
EDNRB	P24530	p.Arg124Lys	rs541269180	missense variant	-	NC_000013.11:g.77918203C>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn129Lys	rs374619256	missense variant	-	NC_000013.11:g.77918187G>T	ESP,TOPMed
EDNRB	P24530	p.Lys130Thr	rs753395287	missense variant	-	NC_000013.11:g.77918185T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys131Arg	rs1261885036	missense variant	-	NC_000013.11:g.77918183A>G	gnomAD
EDNRB	P24530	p.Asn134Ile	rs1396733251	missense variant	-	NC_000013.11:g.77918173T>A	TOPMed
EDNRB	P24530	p.Gly135Ser	rs760677132	missense variant	-	NC_000013.11:g.77918171C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn137Tyr	VAR_078313	Missense	-	-	UniProt
EDNRB	P24530	p.Ile138Val	rs1221743247	missense variant	-	NC_000013.11:g.77918162T>C	gnomAD
EDNRB	P24530	p.Leu139Phe	rs371558629	missense variant	-	NC_000013.11:g.77918157C>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu139Val	rs143042375	missense variant	-	NC_000013.11:g.77918159A>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu139Phe	rs371558629	missense variant	-	NC_000013.11:g.77918157C>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile140Met	rs1046390473	missense variant	-	NC_000013.11:g.77918154G>C	TOPMed
EDNRB	P24530	p.Ala141Thr	rs762880632	missense variant	-	NC_000013.11:g.77918153C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala141Ser	rs762880632	missense variant	-	NC_000013.11:g.77918153C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly146Ala	rs1336072126	missense variant	-	NC_000013.11:g.77918137C>G	gnomAD
EDNRB	P24530	p.His150Leu	rs1399198786	missense variant	-	NC_000013.11:g.77918125T>A	gnomAD
EDNRB	P24530	p.Ile151Val	rs769924328	missense variant	-	NC_000013.11:g.77918123T>C	ExAC,gnomAD
EDNRB	P24530	p.Ile153Thr	rs1159624775	missense variant	-	NC_000013.11:g.77918116A>G	gnomAD
EDNRB	P24530	p.Asp154Gly	rs746343092	missense variant	-	NC_000013.11:g.77918113T>C	ExAC,gnomAD
EDNRB	P24530	p.Pro156Arg	VAR_078314	Missense	-	-	UniProt
EDNRB	P24530	p.Ile157Val	rs368159798	missense variant	-	NC_000013.11:g.77918105T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly170Arg	rs1339942721	missense variant	-	NC_000013.11:g.77903583C>T	gnomAD
EDNRB	P24530	p.Glu172Gln	rs1402105082	missense variant	-	NC_000013.11:g.77903577C>G	gnomAD
EDNRB	P24530	p.Glu172Asp	rs772385532	missense variant	-	NC_000013.11:g.77903575C>G	ExAC,gnomAD
EDNRB	P24530	p.Glu172Ala	rs778187586	missense variant	-	NC_000013.11:g.77903576T>G	ExAC,gnomAD
EDNRB	P24530	p.Cys174Ter	RCV000659494	frameshift	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903570del	ClinVar
EDNRB	P24530	p.Leu176Val	rs143312578	missense variant	-	NC_000013.11:g.77903565G>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val177Leu	rs1168969805	missense variant	-	NC_000013.11:g.77903562C>A	gnomAD
EDNRB	P24530	p.Pro178Thr	rs201311945	missense variant	-	NC_000013.11:g.77903559G>T	ExAC,gnomAD
EDNRB	P24530	p.Ile180Met	rs759131722	missense variant	-	NC_000013.11:g.77903551T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile180Leu	rs1423762419	missense variant	-	NC_000013.11:g.77903553T>G	gnomAD
EDNRB	P24530	p.Gln181Glu	rs1479241351	missense variant	-	NC_000013.11:g.77903550G>C	gnomAD
EDNRB	P24530	p.Ala183Gly	rs104894388	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt,dbSNP
EDNRB	P24530	p.Ala183Gly	VAR_003470	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt
EDNRB	P24530	p.Ala183Gly	rs104894388	missense variant	-	NC_000013.11:g.77903543G>C	-
EDNRB	P24530	p.Ala183Gly	RCV000018114	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903543G>C	ClinVar
EDNRB	P24530	p.Ser184Pro	rs1555290659	missense variant	-	NC_000013.11:g.77903541A>G	-
EDNRB	P24530	p.Ser184Pro	RCV000659495	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903541A>G	ClinVar
EDNRB	P24530	p.Val185Met	rs781214034	missense variant	-	NC_000013.11:g.77903538C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val185Met	RCV000758016	missense variant	Total intestinal aganglionosis	NC_000013.11:g.77903538C>T	ClinVar
EDNRB	P24530	p.Ser191Cys	rs1013425803	missense variant	-	NC_000013.11:g.77903520T>A	TOPMed,gnomAD
EDNRB	P24530	p.Ala194Val	rs751513574	missense variant	-	NC_000013.11:g.77903510G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg199Gly	rs1258768009	missense variant	-	NC_000013.11:g.77903496T>C	gnomAD
EDNRB	P24530	p.Arg201Pro	rs780841273	missense variant	-	NC_000013.11:g.77903355C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Gln	rs780841273	missense variant	-	NC_000013.11:g.77903355C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Ter	RCV000659496	nonsense	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903356G>A	ClinVar
EDNRB	P24530	p.Arg201Ter	rs104894391	stop gained	Abcd syndrome (abcds)	NC_000013.11:g.77903356G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg201Ter	RCV000018120	nonsense	ABCD syndrome (ABCDS)	NC_000013.11:g.77903356G>A	ClinVar
EDNRB	P24530	p.Ala202Val	rs1354645639	missense variant	-	NC_000013.11:g.77903352G>A	TOPMed
EDNRB	P24530	p.Val203Phe	rs202068468	missense variant	-	NC_000013.11:g.77903350C>A	ExAC,gnomAD
EDNRB	P24530	p.Val203Ile	rs202068468	missense variant	-	NC_000013.11:g.77903350C>T	ExAC,gnomAD
EDNRB	P24530	p.Val203Leu	rs202068468	missense variant	-	NC_000013.11:g.77903350C>G	ExAC,gnomAD
EDNRB	P24530	p.Trp206Ter	rs876657688	stop gained	-	NC_000013.11:g.77903339C>T	gnomAD
EDNRB	P24530	p.Trp206Ter	RCV000221133	nonsense	Rare genetic deafness	NC_000013.11:g.77903339C>T	ClinVar
EDNRB	P24530	p.Trp206Arg	rs1410186437	missense variant	-	NC_000013.11:g.77903341A>G	TOPMed
EDNRB	P24530	p.Ser207Asn	rs746941725	missense variant	-	NC_000013.11:g.77903337C>T	ExAC,gnomAD
EDNRB	P24530	p.Arg208Lys	rs1361744218	missense variant	-	NC_000013.11:g.77903334C>T	gnomAD
EDNRB	P24530	p.Gly211Arg	rs932422479	missense variant	-	NC_000013.11:g.77903326C>T	TOPMed
EDNRB	P24530	p.Gly211Val	rs752251497	missense variant	-	NC_000013.11:g.77903325C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile212Thr	rs1382035452	missense variant	-	NC_000013.11:g.77903322A>G	TOPMed,gnomAD
EDNRB	P24530	p.Val214Ile	rs1440733865	missense variant	-	NC_000013.11:g.77903317C>T	gnomAD
EDNRB	P24530	p.Trp217Leu	rs1255586825	missense variant	-	NC_000013.11:g.77903307C>A	TOPMed,gnomAD
EDNRB	P24530	p.Thr218Ile	rs1201160161	missense variant	-	NC_000013.11:g.77903304G>A	gnomAD
EDNRB	P24530	p.Leu224Ser	rs754126689	missense variant	-	NC_000013.11:g.77903286A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile225Thr	rs766452784	missense variant	-	NC_000013.11:g.77903283A>G	ExAC,gnomAD
EDNRB	P24530	p.Trp226_Ser442del	VAR_078315	inframe_deletion	-	-	UniProt
EDNRB	P24530	p.Val227Met	rs1312043256	missense variant	-	NC_000013.11:g.77903278C>T	TOPMed,gnomAD
EDNRB	P24530	p.Val228Ala	rs1334210764	missense variant	-	NC_000013.11:g.77903274A>G	gnomAD
EDNRB	P24530	p.Val228Phe	rs1340452566	missense variant	-	NC_000013.11:g.77903275C>A	gnomAD
EDNRB	P24530	p.Ala233Gly	rs1397335747	missense variant	-	NC_000013.11:g.77903259G>C	gnomAD
EDNRB	P24530	p.Ile238Thr	rs1420013932	missense variant	-	NC_000013.11:g.77903244A>G	gnomAD
EDNRB	P24530	p.Ile238Val	rs767943900	missense variant	-	NC_000013.11:g.77903245T>C	ExAC,gnomAD
EDNRB	P24530	p.Gly239Ser	rs973740703	missense variant	-	NC_000013.11:g.77903242C>T	TOPMed,gnomAD
EDNRB	P24530	p.Gly239Arg	rs973740703	missense variant	-	NC_000013.11:g.77903242C>G	TOPMed,gnomAD
EDNRB	P24530	p.Asp241Ala	rs201625400	missense variant	-	NC_000013.11:g.77903235T>G	ExAC,gnomAD
EDNRB	P24530	p.Asp241Asn	rs762204581	missense variant	-	NC_000013.11:g.77903236C>T	ExAC,gnomAD
EDNRB	P24530	p.Thr244Met	rs5350	missense variant	-	NC_000013.11:g.77903226G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Thr244Met	rs5350	missense variant	-	NC_000013.11:g.77903226G>A	UniProt,dbSNP
EDNRB	P24530	p.Thr244Met	VAR_014678	missense variant	-	NC_000013.11:g.77903226G>A	UniProt
EDNRB	P24530	p.Thr244Met	RCV000325008	missense variant	Waardenburg syndrome	NC_000013.11:g.77903226G>A	ClinVar
EDNRB	P24530	p.Thr244Met	RCV000381908	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77903226G>A	ClinVar
EDNRB	P24530	p.Met245Lys	rs1216200131	missense variant	-	NC_000013.11:g.77903223A>T	TOPMed,gnomAD
EDNRB	P24530	p.Met245Thr	rs1216200131	missense variant	-	NC_000013.11:g.77903223A>G	TOPMed,gnomAD
EDNRB	P24530	p.Met245Ile	rs776468186	missense variant	-	NC_000013.11:g.77903222C>T	ExAC,gnomAD
EDNRB	P24530	p.Asp246Asn	rs1288566827	missense variant	-	NC_000013.11:g.77903221C>T	gnomAD
EDNRB	P24530	p.Asp246Gly	rs371218105	missense variant	-	NC_000013.11:g.77903220T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr247Cys	rs200272603	missense variant	-	NC_000013.11:g.77903217T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys248Thr	rs777697952	missense variant	-	NC_000013.11:g.77903214T>G	ExAC,gnomAD
EDNRB	P24530	p.Lys248Asn	rs758280131	missense variant	-	NC_000013.11:g.77903213T>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly249Arg	rs748143676	missense variant	-	NC_000013.11:g.77903212C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser250Gly	rs199521140	missense variant	-	NC_000013.11:g.77903209T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser250Ile	rs754807912	missense variant	-	NC_000013.11:g.77903208C>A	ExAC,gnomAD
EDNRB	P24530	p.Leu252Pro	rs754040927	missense variant	-	NC_000013.11:g.77903202A>G	ExAC,gnomAD
EDNRB	P24530	p.Arg253Gln	rs140514830	missense variant	-	NC_000013.11:g.77903199C>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg253Ter	rs104894390	stop gained	-	NC_000013.11:g.77903200G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg253Gln	RCV000603036	missense variant	-	NC_000013.11:g.77903199C>T	ClinVar
EDNRB	P24530	p.Arg253Ter	RCV000018119	nonsense	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903200G>A	ClinVar
EDNRB	P24530	p.Ile254Thr	rs371057149	missense variant	-	NC_000013.11:g.77903196A>G	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile254Asn	rs371057149	missense variant	-	NC_000013.11:g.77903196A>T	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ile254Leu	rs750477425	missense variant	-	NC_000013.11:g.77903197T>G	ExAC,gnomAD
EDNRB	P24530	p.His258Tyr	rs368940609	missense variant	-	NC_000013.11:g.77903185G>A	ESP,ExAC,gnomAD
EDNRB	P24530	p.His258Gln	rs752147666	missense variant	-	NC_000013.11:g.77903183A>T	ExAC,gnomAD
EDNRB	P24530	p.His258Asp	rs368940609	missense variant	-	NC_000013.11:g.77903185G>C	ESP,ExAC,gnomAD
EDNRB	P24530	p.Pro259Arg	rs1265700652	missense variant	-	NC_000013.11:g.77903181G>C	gnomAD
EDNRB	P24530	p.Pro259Ser	rs200431358	missense variant	-	NC_000013.11:g.77903182G>A	ExAC,gnomAD
EDNRB	P24530	p.Val260Phe	rs77132068	missense variant	-	NC_000013.11:g.77903179C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val260Ile	rs77132068	missense variant	-	NC_000013.11:g.77903179C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Val260Gly	rs1220991715	missense variant	-	NC_000013.11:g.77903178A>C	TOPMed
EDNRB	P24530	p.Val260Ile	RCV000839975	missense variant	-	NC_000013.11:g.77903179C>T	ClinVar
EDNRB	P24530	p.Val260Ile	RCV000614742	missense variant	-	NC_000013.11:g.77903179C>T	ClinVar
EDNRB	P24530	p.Thr263Ala	rs1347740196	missense variant	-	NC_000013.11:g.77903170T>C	TOPMed
EDNRB	P24530	p.Ala264Val	rs1212186974	missense variant	-	NC_000013.11:g.77903166G>A	TOPMed,gnomAD
EDNRB	P24530	p.Ala264Val	RCV000660537	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77903166G>A	ClinVar
EDNRB	P24530	p.Phe268Leu	rs1332382690	missense variant	-	NC_000013.11:g.77901207A>G	gnomAD
EDNRB	P24530	p.Lys270Gln	rs771549175	missense variant	-	NC_000013.11:g.77901201T>G	ExAC,gnomAD
EDNRB	P24530	p.Thr271Ala	rs1485754365	missense variant	-	NC_000013.11:g.77901198T>C	TOPMed
EDNRB	P24530	p.Asp274Asn	rs199937989	missense variant	-	NC_000013.11:g.77901189C>T	ExAC,gnomAD
EDNRB	P24530	p.Asp274Tyr	rs199937989	missense variant	-	NC_000013.11:g.77901189C>A	ExAC,gnomAD
EDNRB	P24530	p.Asp274Gly	rs142295388	missense variant	-	NC_000013.11:g.77901188T>C	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asp274Val	rs142295388	missense variant	-	NC_000013.11:g.77901188T>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Trp275Gly	rs1422704119	missense variant	-	NC_000013.11:g.77901186A>C	TOPMed
EDNRB	P24530	p.Trp275Ser	rs104894389	missense variant	-	NC_000013.11:g.77901185C>G	ExAC,gnomAD
EDNRB	P24530	p.Trp275Ter	rs104894389	stop gained	-	NC_000013.11:g.77901185C>T	ExAC,gnomAD
EDNRB	P24530	p.Trp275Ter	RCV000018115	nonsense	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901185C>T	ClinVar
EDNRB	P24530	p.Trp276Cys	rs104894387	missense variant	-	NC_000013.11:g.77901181C>A	ESP,TOPMed,gnomAD
EDNRB	P24530	p.Trp276Cys	rs104894387	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt,dbSNP
EDNRB	P24530	p.Trp276Cys	VAR_003471	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt
EDNRB	P24530	p.Trp276Cys	RCV000018112	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	ClinVar
EDNRB	P24530	p.Ser279Asn	rs746051328	missense variant	-	NC_000013.11:g.77901173C>T	ExAC,gnomAD
EDNRB	P24530	p.Ser279Thr	rs746051328	missense variant	-	NC_000013.11:g.77901173C>G	ExAC,gnomAD
EDNRB	P24530	p.Phe291Leu	rs1280369607	missense variant	-	NC_000013.11:g.77901138A>G	gnomAD
EDNRB	P24530	p.Phe292Leu	VAR_015294	Missense	Waardenburg syndrome 4A (WS4A) [MIM:277580]	-	UniProt
EDNRB	P24530	p.Tyr293Ter	rs1064797177	stop gained	-	NC_000013.11:g.77901131dup	-
EDNRB	P24530	p.Tyr293His	rs1352720092	missense variant	-	NC_000013.11:g.77901132A>G	gnomAD
EDNRB	P24530	p.Tyr293Ter	RCV000018116	frameshift	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901138dup	ClinVar
EDNRB	P24530	p.Tyr293Ter	RCV000487897	nonsense	-	NC_000013.11:g.77901131dup	ClinVar
EDNRB	P24530	p.Thr294Ter	RCV000513371	frameshift	-	NC_000013.11:g.77901130dup	ClinVar
EDNRB	P24530	p.Thr294Ile	rs758958773	missense variant	-	NC_000013.11:g.77901128G>A	ExAC,gnomAD
EDNRB	P24530	p.Met296Leu	rs765490586	missense variant	-	NC_000013.11:g.77901123T>A	ExAC
EDNRB	P24530	p.Leu301Ser	rs112067501	missense variant	-	NC_000013.11:g.77901107A>G	gnomAD
EDNRB	P24530	p.Leu301Ter	rs112067501	stop gained	-	NC_000013.11:g.77901107A>T	gnomAD
EDNRB	P24530	p.Arg302Lys	rs1415699054	missense variant	-	NC_000013.11:g.77901104C>T	TOPMed
EDNRB	P24530	p.Lys303Arg	rs1336420198	missense variant	-	NC_000013.11:g.77901101T>C	gnomAD
EDNRB	P24530	p.Lys304Asn	rs749996130	missense variant	-	NC_000013.11:g.77901097T>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys304Ile	rs376098154	missense variant	-	NC_000013.11:g.77901098T>A	ESP,ExAC,gnomAD
EDNRB	P24530	p.Ser305Asn	rs5352	missense variant	-	NC_000013.11:g.77901095C>T	UniProt,dbSNP
EDNRB	P24530	p.Ser305Asn	VAR_003472	missense variant	-	NC_000013.11:g.77901095C>T	UniProt
EDNRB	P24530	p.Ser305Asn	rs5352	missense variant	-	NC_000013.11:g.77901095C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser305Asn	RCV000018118	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901095C>T	ClinVar
EDNRB	P24530	p.Gln308Lys	rs199558894	missense variant	-	NC_000013.11:g.77901087G>T	ExAC,gnomAD
EDNRB	P24530	p.Ala310Thr	rs944500117	missense variant	-	NC_000013.11:g.77901081C>T	TOPMed
EDNRB	P24530	p.Asp313Asn	rs907722017	missense variant	-	NC_000013.11:g.77901072C>T	TOPMed
EDNRB	P24530	p.Asp313Tyr	rs907722017	missense variant	-	NC_000013.11:g.77901072C>A	TOPMed
EDNRB	P24530	p.Lys316Arg	rs1238777762	missense variant	-	NC_000013.11:g.77901062T>C	gnomAD
EDNRB	P24530	p.Arg319Gln	rs759543922	missense variant	-	NC_000013.11:g.77900650C>T	ExAC,gnomAD
EDNRB	P24530	p.Arg319Leu	rs759543922	missense variant	-	NC_000013.11:g.77900650C>A	ExAC,gnomAD
EDNRB	P24530	p.Arg319Trp	rs200363611	missense variant	-	NC_000013.11:g.77900651G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ala322Val	rs1233747891	missense variant	-	NC_000013.11:g.77900641G>A	gnomAD
EDNRB	P24530	p.Val325Ile	RCV000659498	missense variant	Waardenburg syndrome type 4A (WS4A)	NC_000013.11:g.77900633C>T	ClinVar
EDNRB	P24530	p.Val325Ile	rs201437745	missense variant	-	NC_000013.11:g.77900633C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu328Met	rs1216944717	missense variant	-	NC_000013.11:g.77900624G>T	gnomAD
EDNRB	P24530	p.Val331Leu	rs1340103087	missense variant	-	NC_000013.11:g.77900615C>G	gnomAD
EDNRB	P24530	p.Ala333Val	rs1279092107	missense variant	-	NC_000013.11:g.77900608G>A	gnomAD
EDNRB	P24530	p.Pro338Leu	RCV000758015	missense variant	Total intestinal aganglionosis	NC_000013.11:g.77900593G>A	ClinVar
EDNRB	P24530	p.Lys346Arg	rs1162021124	missense variant	-	NC_000013.11:g.77900569T>C	TOPMed
EDNRB	P24530	p.Thr348Ser	rs776554067	missense variant	-	NC_000013.11:g.77900564T>A	ExAC,gnomAD
EDNRB	P24530	p.Leu349Phe	rs1293406077	missense variant	-	NC_000013.11:g.77900561G>A	gnomAD
EDNRB	P24530	p.Asn351Asp	rs1335692950	missense variant	-	NC_000013.11:g.77900555T>C	gnomAD
EDNRB	P24530	p.Asn351Lys	rs1437781516	missense variant	-	NC_000013.11:g.77900553A>T	gnomAD
EDNRB	P24530	p.Gln352Arg	rs1397373759	missense variant	-	NC_000013.11:g.77900551T>C	TOPMed,gnomAD
EDNRB	P24530	p.Asn353Lys	rs1167913825	missense variant	-	NC_000013.11:g.77900547A>C	gnomAD
EDNRB	P24530	p.Leu360His	rs1295402804	missense variant	-	NC_000013.11:g.77900527A>T	gnomAD
EDNRB	P24530	p.Ser362Arg	rs369090616	missense variant	-	NC_000013.11:g.77900522T>G	TOPMed,gnomAD
EDNRB	P24530	p.Leu364Val	rs180686892	missense variant	-	NC_000013.11:g.77899963G>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Leu364Met	rs180686892	missense variant	-	NC_000013.11:g.77899963G>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Tyr369Phe	rs202171748	missense variant	-	NC_000013.11:g.77899947T>A	TOPMed
EDNRB	P24530	p.Ile370Thr	rs1455429720	missense variant	-	NC_000013.11:g.77899944A>G	gnomAD
EDNRB	P24530	p.Gly371Cys	rs202153354	missense variant	-	NC_000013.11:g.77899942C>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly371Ser	rs202153354	missense variant	-	NC_000013.11:g.77899942C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Met374Ile	VAR_003474	Missense	Hirschsprung disease 2 (HSCR2) [MIM:600155]	-	UniProt
EDNRB	P24530	p.Leu377Val	rs1177969210	missense variant	-	NC_000013.11:g.77899924G>C	gnomAD
EDNRB	P24530	p.Cys380Ser	RCV000260247	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77899914C>G	ClinVar
EDNRB	P24530	p.Cys380Ser	rs200939685	missense variant	-	NC_000013.11:g.77899914C>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys380Ser	RCV000299186	missense variant	Waardenburg syndrome	NC_000013.11:g.77899914C>G	ClinVar
EDNRB	P24530	p.Ile381Val	rs1197671529	missense variant	-	NC_000013.11:g.77899912T>C	gnomAD
EDNRB	P24530	p.Pro383Leu	VAR_003475	Missense	Hirschsprung disease 2 (HSCR2) [MIM:600155]	-	UniProt
EDNRB	P24530	p.Ile384Val	rs567578805	missense variant	-	NC_000013.11:g.77899903T>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys391Gln	rs1466632176	missense variant	-	NC_000013.11:g.77899882T>G	TOPMed
EDNRB	P24530	p.Lys391Arg	rs773530703	missense variant	-	NC_000013.11:g.77899881T>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Phe393Leu	rs772345263	missense variant	-	NC_000013.11:g.77899874G>C	ExAC,gnomAD
EDNRB	P24530	p.Phe397Val	rs1378362046	missense variant	-	NC_000013.11:g.77899864A>C	TOPMed,gnomAD
EDNRB	P24530	p.Phe397Tyr	rs1396007412	missense variant	-	NC_000013.11:g.77899863A>T	TOPMed
EDNRB	P24530	p.Ser399Thr	rs750260325	missense variant	-	NC_000013.11:g.77898334A>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser399Pro	rs750260325	missense variant	-	NC_000013.11:g.77898334A>G	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Cys400Trp	rs1312925422	missense variant	-	NC_000013.11:g.77898329G>C	TOPMed,gnomAD
EDNRB	P24530	p.Leu401Phe	rs1364508724	missense variant	-	NC_000013.11:g.77898326T>G	TOPMed
EDNRB	P24530	p.Trp404Ter	rs767275433	stop gained	-	NC_000013.11:g.77898318C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Phe408Leu	rs1297352198	missense variant	-	NC_000013.11:g.77898307A>G	gnomAD
EDNRB	P24530	p.Ser413Phe	rs1319801057	missense variant	-	NC_000013.11:g.77898291G>A	TOPMed
EDNRB	P24530	p.Ser413Thr	rs762094666	missense variant	-	NC_000013.11:g.77898292A>T	ExAC,gnomAD
EDNRB	P24530	p.Ser419Leu	rs200548885	missense variant	-	NC_000013.11:g.77898273G>A	ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Lys422Asn	rs1375298638	missense variant	-	NC_000013.11:g.77898263C>G	gnomAD
EDNRB	P24530	p.Lys422Glu	rs200720978	missense variant	-	NC_000013.11:g.77898265T>C	ExAC,gnomAD
EDNRB	P24530	p.Lys424Glu	rs1359074336	missense variant	-	NC_000013.11:g.77898259T>C	TOPMed
EDNRB	P24530	p.Ala425Pro	rs771239282	missense variant	-	NC_000013.11:g.77898256C>G	ExAC,gnomAD
EDNRB	P24530	p.Asn426Lys	rs747813758	missense variant	-	NC_000013.11:g.77898251A>C	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Asn426Asp	rs1217607090	missense variant	-	NC_000013.11:g.77898253T>C	TOPMed
EDNRB	P24530	p.Asp427Gly	rs778453066	missense variant	-	NC_000013.11:g.77898249T>C	ExAC,gnomAD
EDNRB	P24530	p.His428Gln	rs754498240	missense variant	-	NC_000013.11:g.77898245G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.His428Arg	rs1238508690	missense variant	-	NC_000013.11:g.77898246T>C	TOPMed
EDNRB	P24530	p.His428Tyr	rs1215746671	missense variant	-	NC_000013.11:g.77898247G>A	TOPMed
EDNRB	P24530	p.Gly429Arg	rs144565124	missense variant	-	NC_000013.11:g.77898244C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Gly429Glu	rs1315670514	missense variant	-	NC_000013.11:g.77898243C>T	gnomAD
EDNRB	P24530	p.Gly429Arg	RCV000402655	missense variant	Waardenburg syndrome	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	RCV000310434	missense variant	Hirschsprung Disease, Recessive	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Gly429Arg	RCV000220584	missense variant	-	NC_000013.11:g.77898244C>T	ClinVar
EDNRB	P24530	p.Tyr430His	rs568662694	missense variant	-	NC_000013.11:g.77898241A>G	1000Genomes,ExAC,gnomAD
EDNRB	P24530	p.Arg434Ser	rs750396591	missense variant	-	NC_000013.11:g.77898229G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg434Cys	rs750396591	missense variant	-	NC_000013.11:g.77898229G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Arg434His	rs201243241	missense variant	-	NC_000013.11:g.77898228C>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser435Tyr	rs757021438	missense variant	-	NC_000013.11:g.77898225G>T	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser435Phe	rs757021438	missense variant	-	NC_000013.11:g.77898225G>A	ExAC,TOPMed,gnomAD
EDNRB	P24530	p.Ser436Gly	rs751760790	missense variant	-	NC_000013.11:g.77898223T>C	ExAC,gnomAD
EDNRB	P24530	p.Ser436Thr	rs764302607	missense variant	-	NC_000013.11:g.77898222C>G	ExAC,gnomAD
EDNRB	P24530	p.Ser441Leu	rs762959381	missense variant	-	NC_000013.11:g.77898207G>A	ExAC,gnomAD
EDNRA	P25101	p.Glu2Asp	COSM3600761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485687A>C	NCI-TCGA Cosmic
EDNRA	P25101	p.Glu2Lys	COSM3127123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485685G>A	NCI-TCGA Cosmic
EDNRA	P25101	p.Thr3Ile	rs202082973	missense variant	-	NC_000004.12:g.147485689C>T	ESP,ExAC,gnomAD
EDNRA	P25101	p.Leu4Val	rs751288819	missense variant	-	NC_000004.12:g.147485691C>G	ExAC,gnomAD
EDNRA	P25101	p.Leu6Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147485697C>A	NCI-TCGA
EDNRA	P25101	p.Ser9Tyr	rs752256111	missense variant	-	NC_000004.12:g.147485707C>A	ExAC,gnomAD
EDNRA	P25101	p.Trp11Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.147485713G>A	NCI-TCGA
EDNRA	P25101	p.Trp11Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147485713G>T	NCI-TCGA
EDNRA	P25101	p.Leu12Met	rs1156462695	missense variant	-	NC_000004.12:g.147485715C>A	NCI-TCGA
EDNRA	P25101	p.Leu12Met	rs1156462695	missense variant	-	NC_000004.12:g.147485715C>A	gnomAD
EDNRA	P25101	p.Leu14Val	rs755625335	missense variant	-	NC_000004.12:g.147485721C>G	ExAC,gnomAD
EDNRA	P25101	p.Gly16Glu	rs777586355	missense variant	-	NC_000004.12:g.147485728G>A	ExAC,gnomAD
EDNRA	P25101	p.Gly16Arg	rs1258130495	missense variant	-	NC_000004.12:g.147485727G>A	TOPMed
EDNRA	P25101	p.Cys17Ser	rs1171495953	missense variant	-	NC_000004.12:g.147485730T>A	TOPMed,gnomAD
EDNRA	P25101	p.Ser20Ile	rs753498091	missense variant	-	NC_000004.12:g.147485740G>T	ExAC,gnomAD
EDNRA	P25101	p.Asn22Ile	rs1220111086	missense variant	-	NC_000004.12:g.147485746A>T	TOPMed
EDNRA	P25101	p.Asn22His	rs1011657202	missense variant	-	NC_000004.12:g.147485745A>C	TOPMed,gnomAD
EDNRA	P25101	p.Pro23Leu	rs1407801987	missense variant	-	NC_000004.12:g.147485749C>T	gnomAD
EDNRA	P25101	p.Glu24Val	rs1309363591	missense variant	-	NC_000004.12:g.147485752A>T	gnomAD
EDNRA	P25101	p.Thr28Arg	rs201076169	missense variant	-	NC_000004.12:g.147485764C>G	ExAC,gnomAD
EDNRA	P25101	p.Leu30Ile	rs202012442	missense variant	-	NC_000004.12:g.147485769C>A	gnomAD
EDNRA	P25101	p.His33Arg	rs746216943	missense variant	-	NC_000004.12:g.147485779A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Val34Met	rs1254328233	missense variant	-	NC_000004.12:g.147485781G>A	gnomAD
EDNRA	P25101	p.Thr38Ile	rs772641212	missense variant	-	NC_000004.12:g.147485794C>T	ExAC,gnomAD
EDNRA	P25101	p.Thr39Asn	COSM4390328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485797C>A	NCI-TCGA Cosmic
EDNRA	P25101	p.Thr39Ala	rs1482254930	missense variant	-	NC_000004.12:g.147485796A>G	gnomAD
EDNRA	P25101	p.Phe40Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147485800T>G	NCI-TCGA
EDNRA	P25101	p.Phe40PheSer	NCI-TCGA novel	insertion	-	NC_000004.12:g.147485801_147485802insTTTTCA	NCI-TCGA
EDNRA	P25101	p.Arg41Cys	rs139739379	missense variant	-	NC_000004.12:g.147485802C>T	NCI-TCGA,NCI-TCGA Cosmic
EDNRA	P25101	p.Arg41His	rs188759418	missense variant	-	NC_000004.12:g.147485803G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg41Cys	rs139739379	missense variant	-	NC_000004.12:g.147485802C>T	1000Genomes,ESP,ExAC,gnomAD
EDNRA	P25101	p.Arg41Leu	rs188759418	missense variant	-	NC_000004.12:g.147485803G>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg41Pro	rs188759418	missense variant	-	NC_000004.12:g.147485803G>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg41His	rs188759418	missense variant	-	NC_000004.12:g.147485803G>A	NCI-TCGA,NCI-TCGA Cosmic
EDNRA	P25101	p.Arg41Pro	rs188759418	missense variant	-	NC_000004.12:g.147485803G>C	NCI-TCGA
EDNRA	P25101	p.Ser46Asn	COSM3600763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485818G>A	NCI-TCGA Cosmic
EDNRA	P25101	p.Ser46Arg	rs776662697	missense variant	-	NC_000004.12:g.147485817A>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser46Gly	rs776662697	missense variant	-	NC_000004.12:g.147485817A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Val49Ile	rs201089652	missense variant	-	NC_000004.12:g.147485826G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.His52Arg	rs774268078	missense variant	-	NC_000004.12:g.147485836A>G	ExAC
EDNRA	P25101	p.Gln53Ter	rs1427520780	stop gained	-	NC_000004.12:g.147485838C>T	gnomAD
EDNRA	P25101	p.Thr55Ala	rs963968092	missense variant	-	NC_000004.12:g.147485844A>G	TOPMed,gnomAD
EDNRA	P25101	p.Thr55Pro	rs963968092	missense variant	-	NC_000004.12:g.147485844A>C	TOPMed,gnomAD
EDNRA	P25101	p.Asn56Thr	rs1371380159	missense variant	-	NC_000004.12:g.147485848A>C	TOPMed
EDNRA	P25101	p.Leu57Val	rs1244981928	missense variant	-	NC_000004.12:g.147485850T>G	gnomAD
EDNRA	P25101	p.Val58Ile	rs149382490	missense variant	-	NC_000004.12:g.147485853G>A	ESP,ExAC,gnomAD
EDNRA	P25101	p.Pro60Ser	rs767572768	missense variant	-	NC_000004.12:g.147485859C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Pro60His	rs752630183	missense variant	-	NC_000004.12:g.147485860C>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Asn62Asp	COSM4929560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485865A>G	NCI-TCGA Cosmic
EDNRA	P25101	p.Ser64Leu	rs1373248197	missense variant	-	NC_000004.12:g.147485872C>T	gnomAD
EDNRA	P25101	p.Met65Val	rs369301823	missense variant	-	NC_000004.12:g.147485874A>G	1000Genomes,ESP,ExAC,TOPMed
EDNRA	P25101	p.Met65Thr	rs1235155440	missense variant	-	NC_000004.12:g.147485875T>C	TOPMed,gnomAD
EDNRA	P25101	p.Pro70Leu	rs763749000	missense variant	-	NC_000004.12:g.147485890C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile86Val	rs192190120	missense variant	-	NC_000004.12:g.147485937A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile86Leu	rs192190120	missense variant	-	NC_000004.12:g.147485937A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile86Met	rs201438230	missense variant	-	NC_000004.12:g.147485939A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile86Leu	rs192190120	missense variant	-	NC_000004.12:g.147485937A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser87Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147485941C>A	NCI-TCGA
EDNRA	P25101	p.Thr89Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147485947C>T	NCI-TCGA
EDNRA	P25101	p.Ile92Val	rs748172801	missense variant	-	NC_000004.12:g.147485955A>G	ExAC,gnomAD
EDNRA	P25101	p.Val93Met	rs867209946	missense variant	-	NC_000004.12:g.147485958G>A	TOPMed,gnomAD
EDNRA	P25101	p.Gly94Ala	rs773246690	missense variant	-	NC_000004.12:g.147485962G>C	ExAC,gnomAD
EDNRA	P25101	p.Gly94Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.147485961G>T	NCI-TCGA
EDNRA	P25101	p.Met95Thr	rs200921476	missense variant	-	NC_000004.12:g.147485965T>C	gnomAD
EDNRA	P25101	p.Val96Met	rs144440640	missense variant	-	NC_000004.12:g.147485967G>A	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg103Met	rs367891598	missense variant	-	NC_000004.12:g.147485989G>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg103Gly	rs1441651560	missense variant	-	NC_000004.12:g.147485988A>G	gnomAD
EDNRA	P25101	p.Ile105Ser	COSM4122619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147485995T>G	NCI-TCGA Cosmic
EDNRA	P25101	p.Tyr106ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.147485995T>-	NCI-TCGA
EDNRA	P25101	p.Gln107Arg	rs1363196459	missense variant	-	NC_000004.12:g.147486001A>G	gnomAD
EDNRA	P25101	p.Asn108Lys	rs368930952	missense variant	-	NC_000004.12:g.147486005C>G	ESP,ExAC,gnomAD
EDNRA	P25101	p.Cys110Arg	rs764966380	missense variant	-	NC_000004.12:g.147486009T>C	ExAC,gnomAD
EDNRA	P25101	p.Asn116Asp	COSM3428211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147486027A>G	NCI-TCGA Cosmic
EDNRA	P25101	p.Ala117Val	rs146147419	missense variant	-	NC_000004.12:g.147486031C>T	NCI-TCGA,NCI-TCGA Cosmic
EDNRA	P25101	p.Ala117Val	rs146147419	missense variant	-	NC_000004.12:g.147486031C>T	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ala117Thr	rs374053080	missense variant	-	NC_000004.12:g.147486030G>A	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Leu124Val	COSM4919591	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147486051C>G	NCI-TCGA Cosmic
EDNRA	P25101	p.Leu127Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147486060C>A	NCI-TCGA
EDNRA	P25101	p.Tyr129Cys	rs786205230	missense variant	-	NC_000004.12:g.147486067A>G	gnomAD
EDNRA	P25101	p.Tyr129Phe	rs786205230	missense variant	-	NC_000004.12:g.147486067A>T	gnomAD
EDNRA	P25101	p.Tyr129Phe	RCV000170509	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147486067A>T	ClinVar
EDNRA	P25101	p.Val131Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147486072G>A	NCI-TCGA
EDNRA	P25101	p.Leu134Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147486081C>G	NCI-TCGA
EDNRA	P25101	p.Ile136Val	rs1396094394	missense variant	-	NC_000004.12:g.147486087A>G	TOPMed,gnomAD
EDNRA	P25101	p.Ile136Leu	VAR_035758	Missense	-	-	UniProt
EDNRA	P25101	p.Asn137Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147486090A>G	NCI-TCGA
EDNRA	P25101	p.Val138Ala	rs1162447103	missense variant	-	NC_000004.12:g.147486094T>C	gnomAD
EDNRA	P25101	p.Gly144Arg	rs766009622	missense variant	-	NC_000004.12:g.147519860G>A	ExAC
EDNRA	P25101	p.Arg145His	rs747164622	missense variant	-	NC_000004.12:g.147519864G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg145Cys	rs751925818	missense variant	-	NC_000004.12:g.147519863C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg145Cys	rs751925818	missense variant	-	NC_000004.12:g.147519863C>T	NCI-TCGA,NCI-TCGA Cosmic
EDNRA	P25101	p.Asp149Glu	rs1358725660	missense variant	-	NC_000004.12:g.147519877T>G	gnomAD
EDNRA	P25101	p.His150Tyr	rs768088622	missense variant	-	NC_000004.12:g.147519878C>T	ExAC,gnomAD
EDNRA	P25101	p.Asn151Lys	rs1315421727	missense variant	-	NC_000004.12:g.147519883T>A	gnomAD
EDNRA	P25101	p.Phe153Cys	rs1216937463	missense variant	-	NC_000004.12:g.147519888T>G	TOPMed
EDNRA	P25101	p.Val155Ile	rs200206289	missense variant	-	NC_000004.12:g.147519893G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Leu157Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147519899C>A	NCI-TCGA
EDNRA	P25101	p.Pro162His	COSM4939970	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147519915C>A	NCI-TCGA Cosmic
EDNRA	P25101	p.Leu164CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.147519917T>-	NCI-TCGA
EDNRA	P25101	p.Ser168Leu	RCV000624539	missense variant	Inborn genetic diseases	NC_000004.12:g.147519933C>T	ClinVar
EDNRA	P25101	p.Ser168Leu	rs1224900173	missense variant	-	NC_000004.12:g.147519933C>T	gnomAD
EDNRA	P25101	p.Val169Met	rs1311162653	missense variant	-	NC_000004.12:g.147519935G>A	gnomAD
EDNRA	P25101	p.Gly170Glu	rs1208606803	missense variant	-	NC_000004.12:g.147519939G>A	gnomAD
EDNRA	P25101	p.Ile171Thr	rs1282430058	missense variant	-	NC_000004.12:g.147519942T>C	gnomAD
EDNRA	P25101	p.Val173Ile	rs1448060817	missense variant	-	NC_000004.12:g.147519947G>A	gnomAD
EDNRA	P25101	p.Ala178Thr	rs199698388	missense variant	-	NC_000004.12:g.147519962G>A	ExAC,gnomAD
EDNRA	P25101	p.Asp182Gly	COSM1051837	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147519975A>G	NCI-TCGA Cosmic
EDNRA	P25101	p.Trp190Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.147532527G>A	NCI-TCGA
EDNRA	P25101	p.Arg192Cys	rs1274081127	missense variant	-	NC_000004.12:g.147532531C>T	gnomAD
EDNRA	P25101	p.Gln194Ter	COSM732451	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.147532537C>T	NCI-TCGA Cosmic
EDNRA	P25101	p.Gln194Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147532537C>A	NCI-TCGA
EDNRA	P25101	p.Gly195Glu	COSM3600768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147532541G>A	NCI-TCGA Cosmic
EDNRA	P25101	p.Gly195Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147532541G>T	NCI-TCGA
EDNRA	P25101	p.Ile196Thr	rs140200727	missense variant	-	NC_000004.12:g.147532544T>C	ESP,TOPMed
EDNRA	P25101	p.Gly197Trp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147532546G>T	NCI-TCGA
EDNRA	P25101	p.Pro199Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147532552C>A	NCI-TCGA
EDNRA	P25101	p.Ile204Val	rs1188302838	missense variant	-	NC_000004.12:g.147532567A>G	gnomAD
EDNRA	P25101	p.Ile204Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147532567A>T	NCI-TCGA
EDNRA	P25101	p.Glu205Ter	COSM3825309	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.147532570G>T	NCI-TCGA Cosmic
EDNRA	P25101	p.Glu205Lys	COSM3600770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147532570G>A	NCI-TCGA Cosmic
EDNRA	P25101	p.Ile206Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147532574T>C	NCI-TCGA
EDNRA	P25101	p.Ser208Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147532580C>T	NCI-TCGA
EDNRA	P25101	p.Ile209Val	rs771740107	missense variant	-	NC_000004.12:g.147532582A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ala217Ser	rs1418152292	missense variant	-	NC_000004.12:g.147532606G>T	gnomAD
EDNRA	P25101	p.Glu220Asp	rs1156308413	missense variant	-	NC_000004.12:g.147532617A>T	gnomAD
EDNRA	P25101	p.Glu220Lys	rs761044752	missense variant	-	NC_000004.12:g.147532615G>A	ExAC,gnomAD
EDNRA	P25101	p.Ala221Thr	rs1333103798	missense variant	-	NC_000004.12:g.147532618G>A	TOPMed
EDNRA	P25101	p.Ala221Val	rs905733945	missense variant	-	NC_000004.12:g.147532619C>T	TOPMed,gnomAD
EDNRA	P25101	p.Ile222Val	rs777240969	missense variant	-	NC_000004.12:g.147532621A>G	ExAC,gnomAD
EDNRA	P25101	p.Gly223Ala	rs1365947741	missense variant	-	NC_000004.12:g.147532625G>C	TOPMed
EDNRA	P25101	p.Val225Ile	rs765457542	missense variant	-	NC_000004.12:g.147532630G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Met226Val	rs543490260	missense variant	-	NC_000004.12:g.147532633A>G	1000Genomes,ExAC,gnomAD
EDNRA	P25101	p.Met226Leu	rs543490260	missense variant	-	NC_000004.12:g.147532633A>C	1000Genomes,ExAC,gnomAD
EDNRA	P25101	p.Glu230Lys	rs1281341172	missense variant	-	NC_000004.12:g.147532645G>A	gnomAD
EDNRA	P25101	p.Gly233Asp	rs766555186	missense variant	-	NC_000004.12:g.147532655G>A	ExAC,gnomAD
EDNRA	P25101	p.Gln235His	rs1278852665	missense variant	-	NC_000004.12:g.147532662G>C	gnomAD
EDNRA	P25101	p.Gln235Glu	COSM291335	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147532660C>G	NCI-TCGA Cosmic
EDNRA	P25101	p.His236Arg	rs368282326	missense variant	-	NC_000004.12:g.147532664A>G	ESP,TOPMed
EDNRA	P25101	p.Asn242Ser	rs988548579	missense variant	-	NC_000004.12:g.147532682A>G	TOPMed
EDNRA	P25101	p.Ala243Gly	rs755889200	missense variant	-	NC_000004.12:g.147532685C>G	ExAC,gnomAD
EDNRA	P25101	p.Ala243Pro	rs752446511	missense variant	-	NC_000004.12:g.147532684G>C	ExAC,gnomAD
EDNRA	P25101	p.Ser245Pro	rs983062132	missense variant	-	NC_000004.12:g.147532690T>C	gnomAD
EDNRA	P25101	p.Met248Leu	rs200425226	missense variant	-	NC_000004.12:g.147532699A>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Met248Val	rs200425226	missense variant	-	NC_000004.12:g.147532699A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Phe250Ser	rs745396045	missense variant	-	NC_000004.12:g.147535878T>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Phe250Tyr	rs745396045	missense variant	-	NC_000004.12:g.147535878T>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Gln252His	rs1469453376	missense variant	-	NC_000004.12:g.147535885A>C	gnomAD
EDNRA	P25101	p.Gln252Arg	rs757888386	missense variant	-	NC_000004.12:g.147535884A>G	ExAC,gnomAD
EDNRA	P25101	p.Asp253Tyr	COSM6166319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147535886G>T	NCI-TCGA Cosmic
EDNRA	P25101	p.Asp253Asn	COSM4122620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147535886G>A	NCI-TCGA Cosmic
EDNRA	P25101	p.Val254Gly	rs1242317099	missense variant	-	NC_000004.12:g.147535890T>G	TOPMed
EDNRA	P25101	p.Trp257Ter	rs1208378265	stop gained	-	NC_000004.12:g.147535899G>A	gnomAD
EDNRA	P25101	p.Leu259Phe	rs746724758	missense variant	-	NC_000004.12:g.147535904C>T	ExAC,gnomAD
EDNRA	P25101	p.Phe264Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147535919T>G	NCI-TCGA
EDNRA	P25101	p.Met266Val	rs906400370	missense variant	-	NC_000004.12:g.147535925A>G	TOPMed,gnomAD
EDNRA	P25101	p.Pro267Ser	COSM1051839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147535928C>T	NCI-TCGA Cosmic
EDNRA	P25101	p.Ala272Val	rs1462059537	missense variant	-	NC_000004.12:g.147535944C>T	gnomAD
EDNRA	P25101	p.Thr276Ala	rs1437262074	missense variant	-	NC_000004.12:g.147535955A>G	TOPMed
EDNRA	P25101	p.Cys280Tyr	rs1159236679	missense variant	-	NC_000004.12:g.147535968G>A	TOPMed,gnomAD
EDNRA	P25101	p.Arg286Lys	COSM3600772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147535986G>A	NCI-TCGA Cosmic
EDNRA	P25101	p.Asn287Ser	rs1232272668	missense variant	-	NC_000004.12:g.147535989A>G	gnomAD
EDNRA	P25101	p.Asn287Asp	rs200016399	missense variant	-	NC_000004.12:g.147535988A>G	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Leu290Trp	rs753632116	missense variant	-	NC_000004.12:g.147535998T>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg291Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147536000A>G	NCI-TCGA
EDNRA	P25101	p.Arg291Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147536001G>C	NCI-TCGA
EDNRA	P25101	p.His297Tyr	rs1260007754	missense variant	-	NC_000004.12:g.147536018C>T	gnomAD
EDNRA	P25101	p.His297Arg	rs761549167	missense variant	-	NC_000004.12:g.147536019A>G	ExAC,gnomAD
EDNRA	P25101	p.Leu298Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147536022T>G	NCI-TCGA
EDNRA	P25101	p.Gln300Ter	rs1218958699	stop gained	-	NC_000004.12:g.147536027C>T	TOPMed
EDNRA	P25101	p.Arg301His	rs750171725	missense variant	-	NC_000004.12:g.147539818G>A	ExAC,gnomAD
EDNRA	P25101	p.Arg301Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147539817C>T	NCI-TCGA
EDNRA	P25101	p.Arg302Ter	COSM1427425	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.147539820C>T	NCI-TCGA Cosmic
EDNRA	P25101	p.Arg302Gln	rs763015080	missense variant	-	NC_000004.12:g.147539821G>A	ExAC,gnomAD
EDNRA	P25101	p.Glu303Lys	rs876657388	missense variant	-	NC_000004.12:g.147539823G>A	-
EDNRA	P25101	p.Glu303Lys	rs876657388	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147539823G>A	UniProt,dbSNP
EDNRA	P25101	p.Glu303Lys	VAR_073789	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147539823G>A	UniProt
EDNRA	P25101	p.Glu303Lys	RCV000170510	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147539823G>A	ClinVar
EDNRA	P25101	p.Val308Ile	rs754487764	missense variant	-	NC_000004.12:g.147539838G>A	ExAC,gnomAD
EDNRA	P25101	p.Cys310Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.147539846C>A	NCI-TCGA
EDNRA	P25101	p.Ala316Asp	rs781021302	missense variant	-	NC_000004.12:g.147539863C>A	ExAC
EDNRA	P25101	p.Leu317Phe	rs202191899	missense variant	-	NC_000004.12:g.147539865C>T	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Leu317Val	rs202191899	missense variant	-	NC_000004.12:g.147539865C>G	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg326His	rs1204047804	missense variant	-	NC_000004.12:g.147539893G>A	TOPMed,gnomAD
EDNRA	P25101	p.Glu335Gln	rs771470596	missense variant	-	NC_000004.12:g.147539919G>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Glu335Lys	rs771470596	missense variant	-	NC_000004.12:g.147539919G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Glu335Val	rs1394625720	missense variant	-	NC_000004.12:g.147539920A>T	gnomAD
EDNRA	P25101	p.Met336Thr	rs369936798	missense variant	-	NC_000004.12:g.147539923T>C	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Lys338Asn	rs772182861	missense variant	-	NC_000004.12:g.147539930G>T	ExAC,gnomAD
EDNRA	P25101	p.Lys338Asn	rs772182861	missense variant	-	NC_000004.12:g.147539930G>C	ExAC,gnomAD
EDNRA	P25101	p.Asn339Asp	rs1456328796	missense variant	-	NC_000004.12:g.147539931A>G	TOPMed
EDNRA	P25101	p.Arg340Ter	COSM302113	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.147539934C>T	NCI-TCGA Cosmic
EDNRA	P25101	p.Arg340Gln	rs200318138	missense variant	-	NC_000004.12:g.147539935G>A	ExAC,gnomAD
EDNRA	P25101	p.Arg340TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.147539933_147539934insTA	NCI-TCGA
EDNRA	P25101	p.Glu342Lys	rs747289151	missense variant	-	NC_000004.12:g.147539940G>A	ExAC,gnomAD
EDNRA	P25101	p.Leu349Phe	rs1196002441	missense variant	-	NC_000004.12:g.147540387C>T	TOPMed,gnomAD
EDNRA	P25101	p.Tyr352His	rs1247822547	missense variant	-	NC_000004.12:g.147540396T>C	gnomAD
EDNRA	P25101	p.Tyr352Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147540397A>G	NCI-TCGA
EDNRA	P25101	p.Gly354Ser	rs201758871	missense variant	-	NC_000004.12:g.147540402G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile355Val	rs1422176394	missense variant	-	NC_000004.12:g.147540405A>G	gnomAD
EDNRA	P25101	p.Asn356Asp	rs746426917	missense variant	-	NC_000004.12:g.147540408A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ala358Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147540414G>A	NCI-TCGA
EDNRA	P25101	p.Met360Ile	rs1459435838	missense variant	-	NC_000004.12:g.147540422G>T	TOPMed,gnomAD
EDNRA	P25101	p.Met360Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147540422G>A	NCI-TCGA
EDNRA	P25101	p.Ser362Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147540427C>T	NCI-TCGA
EDNRA	P25101	p.Cys363Ser	rs780175310	missense variant	-	NC_000004.12:g.147540430G>C	ExAC,gnomAD
EDNRA	P25101	p.Ile364Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147540434A>G	NCI-TCGA
EDNRA	P25101	p.Ala368Thr	rs201117684	missense variant	-	NC_000004.12:g.147540444G>A	1000Genomes,ExAC,gnomAD
EDNRA	P25101	p.Tyr370His	rs768938796	missense variant	-	NC_000004.12:g.147540450T>C	ExAC,gnomAD
EDNRA	P25101	p.Phe371Ile	rs754065595	missense variant	-	NC_000004.12:g.147540453T>A	gnomAD
EDNRA	P25101	p.Lys375Glu	rs749137757	missense variant	-	NC_000004.12:g.147540465A>G	ExAC,gnomAD
EDNRA	P25101	p.Gln381Pro	rs1219791712	missense variant	-	NC_000004.12:g.147540484A>C	TOPMed
EDNRA	P25101	p.Gln381Pro	RCV000786025	missense variant	-	NC_000004.12:g.147540484A>C	ClinVar
EDNRA	P25101	p.Ser382Leu	rs1370995465	missense variant	-	NC_000004.12:g.147542479C>T	TOPMed
EDNRA	P25101	p.Ser382Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147542478T>G	NCI-TCGA
EDNRA	P25101	p.Cys386Tyr	rs1226849198	missense variant	-	NC_000004.12:g.147542491G>A	gnomAD
EDNRA	P25101	p.Ser391Cys	rs778918018	missense variant	-	NC_000004.12:g.147542506C>G	ExAC,gnomAD
EDNRA	P25101	p.Lys392Glu	rs1328127839	missense variant	-	NC_000004.12:g.147542508A>G	TOPMed
EDNRA	P25101	p.Met395Leu	rs1203866800	missense variant	-	NC_000004.12:g.147542517A>T	gnomAD
EDNRA	P25101	p.Met395Ile	rs1286984998	missense variant	-	NC_000004.12:g.147542519G>A	gnomAD
EDNRA	P25101	p.Thr396Asn	rs772147672	missense variant	-	NC_000004.12:g.147542521C>A	ExAC,gnomAD
EDNRA	P25101	p.Ser397Leu	rs775518063	missense variant	-	NC_000004.12:g.147542524C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Met400Val	rs1393761572	missense variant	-	NC_000004.12:g.147542532A>G	TOPMed
EDNRA	P25101	p.Gly402Ala	rs768101596	missense variant	-	NC_000004.12:g.147542539G>C	ExAC,gnomAD
EDNRA	P25101	p.Gly402Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.147542539G>A	NCI-TCGA
EDNRA	P25101	p.Thr403Ala	rs1160552352	missense variant	-	NC_000004.12:g.147542541A>G	TOPMed
EDNRA	P25101	p.Ile405Phe	COSM6166317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147542547A>T	NCI-TCGA Cosmic
EDNRA	P25101	p.Ile405Val	rs1368512467	missense variant	-	NC_000004.12:g.147542547A>G	gnomAD
EDNRA	P25101	p.Gln406Pro	rs1343329605	missense variant	-	NC_000004.12:g.147542551A>C	gnomAD
EDNRA	P25101	p.His410Tyr	rs565590856	missense variant	-	NC_000004.12:g.147542562C>T	gnomAD
EDNRA	P25101	p.Asp411Asn	rs1156690632	missense variant	-	NC_000004.12:g.147542565G>A	gnomAD
EDNRA	P25101	p.Gln412Glu	COSM4833346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.147542568C>G	NCI-TCGA Cosmic
EDNRA	P25101	p.Asn416Ser	rs1420008805	missense variant	-	NC_000004.12:g.147542581A>G	gnomAD
EDNRA	P25101	p.Asp418Ala	rs776193470	missense variant	-	NC_000004.12:g.147542587A>C	ExAC
EDNRA	P25101	p.Arg419Gln	rs200104039	missense variant	-	NC_000004.12:g.147542590G>A	ExAC,gnomAD
EDNRA	P25101	p.Arg419Trp	rs761439706	missense variant	-	NC_000004.12:g.147542589C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser420Thr	rs200945454	missense variant	-	NC_000004.12:g.147542593G>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser420Asn	rs200945454	missense variant	-	NC_000004.12:g.147542593G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser421Asn	rs1236993316	missense variant	-	NC_000004.12:g.147542596G>A	gnomAD
EDNRA	P25101	p.His422Pro	rs763257382	missense variant	-	NC_000004.12:g.147542599A>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.His422Tyr	rs1281717406	missense variant	-	NC_000004.12:g.147542598C>T	gnomAD
EDNRA	P25101	p.His422Arg	rs763257382	missense variant	-	NC_000004.12:g.147542599A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Lys423Asn	rs899115126	missense variant	-	NC_000004.12:g.147542603G>C	TOPMed
EDNRA	P25101	p.Asp424Tyr	rs1278609613	missense variant	-	NC_000004.12:g.147542604G>T	gnomAD
EDNRA	P25101	p.Asp424His	rs1278609613	missense variant	-	NC_000004.12:g.147542604G>C	gnomAD
EDNRA	P25101	p.Asp424Asn	rs1278609613	missense variant	-	NC_000004.12:g.147542604G>A	gnomAD
EDNRA	P25101	p.Ser425Thr	rs202195925	missense variant	-	NC_000004.12:g.147542608G>C	TOPMed
EDNRA	P25101	p.Met426Ile	rs1201780967	missense variant	-	NC_000004.12:g.147542612G>A	gnomAD
EDNRA	P25101	p.Met426Val	rs1350558296	missense variant	-	NC_000004.12:g.147542610A>G	gnomAD
EDNRA	P25101	p.Asn427Ser	rs866965609	missense variant	-	NC_000004.12:g.147542614A>G	gnomAD
EDNRA	P25101	p.Asn427Thr	rs866965609	missense variant	-	NC_000004.12:g.147542614A>C	gnomAD
EDNRA	P25101	p.Thr3Ile	rs202082973	missense variant	-	NC_000004.12:g.147485689C>T	ESP,ExAC,gnomAD
EDNRA	P25101	p.Leu4Val	rs751288819	missense variant	-	NC_000004.12:g.147485691C>G	ExAC,gnomAD
EDNRA	P25101	p.Ser9Tyr	rs752256111	missense variant	-	NC_000004.12:g.147485707C>A	ExAC,gnomAD
EDNRA	P25101	p.Leu12Met	rs1156462695	missense variant	-	NC_000004.12:g.147485715C>A	gnomAD
EDNRA	P25101	p.Leu14Val	rs755625335	missense variant	-	NC_000004.12:g.147485721C>G	ExAC,gnomAD
EDNRA	P25101	p.Gly16Glu	rs777586355	missense variant	-	NC_000004.12:g.147485728G>A	ExAC,gnomAD
EDNRA	P25101	p.Gly16Arg	rs1258130495	missense variant	-	NC_000004.12:g.147485727G>A	TOPMed
EDNRA	P25101	p.Cys17Ser	rs1171495953	missense variant	-	NC_000004.12:g.147485730T>A	TOPMed,gnomAD
EDNRA	P25101	p.Ser20Ile	rs753498091	missense variant	-	NC_000004.12:g.147485740G>T	ExAC,gnomAD
EDNRA	P25101	p.Asn22Ile	rs1220111086	missense variant	-	NC_000004.12:g.147485746A>T	TOPMed
EDNRA	P25101	p.Asn22His	rs1011657202	missense variant	-	NC_000004.12:g.147485745A>C	TOPMed,gnomAD
EDNRA	P25101	p.Pro23Leu	rs1407801987	missense variant	-	NC_000004.12:g.147485749C>T	gnomAD
EDNRA	P25101	p.Glu24Val	rs1309363591	missense variant	-	NC_000004.12:g.147485752A>T	gnomAD
EDNRA	P25101	p.Thr28Arg	rs201076169	missense variant	-	NC_000004.12:g.147485764C>G	ExAC,gnomAD
EDNRA	P25101	p.Leu30Ile	rs202012442	missense variant	-	NC_000004.12:g.147485769C>A	gnomAD
EDNRA	P25101	p.His33Arg	rs746216943	missense variant	-	NC_000004.12:g.147485779A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Val34Met	rs1254328233	missense variant	-	NC_000004.12:g.147485781G>A	gnomAD
EDNRA	P25101	p.Thr38Ile	rs772641212	missense variant	-	NC_000004.12:g.147485794C>T	ExAC,gnomAD
EDNRA	P25101	p.Thr39Ala	rs1482254930	missense variant	-	NC_000004.12:g.147485796A>G	gnomAD
EDNRA	P25101	p.Arg41Cys	rs139739379	missense variant	-	NC_000004.12:g.147485802C>T	1000Genomes,ESP,ExAC,gnomAD
EDNRA	P25101	p.Arg41Leu	rs188759418	missense variant	-	NC_000004.12:g.147485803G>T	1000Genomes,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg41Pro	rs188759418	missense variant	-	NC_000004.12:g.147485803G>C	1000Genomes,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg41His	rs188759418	missense variant	-	NC_000004.12:g.147485803G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser46Gly	rs776662697	missense variant	-	NC_000004.12:g.147485817A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser46Arg	rs776662697	missense variant	-	NC_000004.12:g.147485817A>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Val49Ile	rs201089652	missense variant	-	NC_000004.12:g.147485826G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.His52Arg	rs774268078	missense variant	-	NC_000004.12:g.147485836A>G	ExAC
EDNRA	P25101	p.Gln53Ter	rs1427520780	stop gained	-	NC_000004.12:g.147485838C>T	gnomAD
EDNRA	P25101	p.Thr55Pro	rs963968092	missense variant	-	NC_000004.12:g.147485844A>C	TOPMed,gnomAD
EDNRA	P25101	p.Thr55Ala	rs963968092	missense variant	-	NC_000004.12:g.147485844A>G	TOPMed,gnomAD
EDNRA	P25101	p.Asn56Thr	rs1371380159	missense variant	-	NC_000004.12:g.147485848A>C	TOPMed
EDNRA	P25101	p.Leu57Val	rs1244981928	missense variant	-	NC_000004.12:g.147485850T>G	gnomAD
EDNRA	P25101	p.Val58Ile	rs149382490	missense variant	-	NC_000004.12:g.147485853G>A	ESP,ExAC,gnomAD
EDNRA	P25101	p.Pro60His	rs752630183	missense variant	-	NC_000004.12:g.147485860C>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Pro60Ser	rs767572768	missense variant	-	NC_000004.12:g.147485859C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser64Leu	rs1373248197	missense variant	-	NC_000004.12:g.147485872C>T	gnomAD
EDNRA	P25101	p.Met65Thr	rs1235155440	missense variant	-	NC_000004.12:g.147485875T>C	TOPMed,gnomAD
EDNRA	P25101	p.Met65Val	rs369301823	missense variant	-	NC_000004.12:g.147485874A>G	1000Genomes,ESP,ExAC,TOPMed
EDNRA	P25101	p.Pro70Leu	rs763749000	missense variant	-	NC_000004.12:g.147485890C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile86Leu	rs192190120	missense variant	-	NC_000004.12:g.147485937A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile86Leu	rs192190120	missense variant	-	NC_000004.12:g.147485937A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile86Met	rs201438230	missense variant	-	NC_000004.12:g.147485939A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile86Val	rs192190120	missense variant	-	NC_000004.12:g.147485937A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile92Val	rs748172801	missense variant	-	NC_000004.12:g.147485955A>G	ExAC,gnomAD
EDNRA	P25101	p.Val93Met	rs867209946	missense variant	-	NC_000004.12:g.147485958G>A	TOPMed,gnomAD
EDNRA	P25101	p.Gly94Ala	rs773246690	missense variant	-	NC_000004.12:g.147485962G>C	ExAC,gnomAD
EDNRA	P25101	p.Met95Thr	rs200921476	missense variant	-	NC_000004.12:g.147485965T>C	gnomAD
EDNRA	P25101	p.Val96Met	rs144440640	missense variant	-	NC_000004.12:g.147485967G>A	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg103Gly	rs1441651560	missense variant	-	NC_000004.12:g.147485988A>G	gnomAD
EDNRA	P25101	p.Arg103Met	rs367891598	missense variant	-	NC_000004.12:g.147485989G>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Gln107Arg	rs1363196459	missense variant	-	NC_000004.12:g.147486001A>G	gnomAD
EDNRA	P25101	p.Asn108Lys	rs368930952	missense variant	-	NC_000004.12:g.147486005C>G	ESP,ExAC,gnomAD
EDNRA	P25101	p.Cys110Arg	rs764966380	missense variant	-	NC_000004.12:g.147486009T>C	ExAC,gnomAD
EDNRA	P25101	p.Ala117Thr	rs374053080	missense variant	-	NC_000004.12:g.147486030G>A	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ala117Val	rs146147419	missense variant	-	NC_000004.12:g.147486031C>T	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Tyr129Phe	rs786205230	missense variant	-	NC_000004.12:g.147486067A>T	gnomAD
EDNRA	P25101	p.Tyr129Cys	rs786205230	missense variant	-	NC_000004.12:g.147486067A>G	gnomAD
EDNRA	P25101	p.Tyr129Phe	RCV000170509	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147486067A>T	ClinVar
EDNRA	P25101	p.Ile136Val	rs1396094394	missense variant	-	NC_000004.12:g.147486087A>G	TOPMed,gnomAD
EDNRA	P25101	p.Ile136Leu	VAR_035758	Missense	-	-	UniProt
EDNRA	P25101	p.Val138Ala	rs1162447103	missense variant	-	NC_000004.12:g.147486094T>C	gnomAD
EDNRA	P25101	p.Gly144Arg	rs766009622	missense variant	-	NC_000004.12:g.147519860G>A	ExAC
EDNRA	P25101	p.Arg145His	rs747164622	missense variant	-	NC_000004.12:g.147519864G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg145Cys	rs751925818	missense variant	-	NC_000004.12:g.147519863C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Asp149Glu	rs1358725660	missense variant	-	NC_000004.12:g.147519877T>G	gnomAD
EDNRA	P25101	p.His150Tyr	rs768088622	missense variant	-	NC_000004.12:g.147519878C>T	ExAC,gnomAD
EDNRA	P25101	p.Asn151Lys	rs1315421727	missense variant	-	NC_000004.12:g.147519883T>A	gnomAD
EDNRA	P25101	p.Phe153Cys	rs1216937463	missense variant	-	NC_000004.12:g.147519888T>G	TOPMed
EDNRA	P25101	p.Val155Ile	rs200206289	missense variant	-	NC_000004.12:g.147519893G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser168Leu	rs1224900173	missense variant	-	NC_000004.12:g.147519933C>T	gnomAD
EDNRA	P25101	p.Ser168Leu	RCV000624539	missense variant	Inborn genetic diseases	NC_000004.12:g.147519933C>T	ClinVar
EDNRA	P25101	p.Val169Met	rs1311162653	missense variant	-	NC_000004.12:g.147519935G>A	gnomAD
EDNRA	P25101	p.Gly170Glu	rs1208606803	missense variant	-	NC_000004.12:g.147519939G>A	gnomAD
EDNRA	P25101	p.Ile171Thr	rs1282430058	missense variant	-	NC_000004.12:g.147519942T>C	gnomAD
EDNRA	P25101	p.Val173Ile	rs1448060817	missense variant	-	NC_000004.12:g.147519947G>A	gnomAD
EDNRA	P25101	p.Ala178Thr	rs199698388	missense variant	-	NC_000004.12:g.147519962G>A	ExAC,gnomAD
EDNRA	P25101	p.Arg192Cys	rs1274081127	missense variant	-	NC_000004.12:g.147532531C>T	gnomAD
EDNRA	P25101	p.Ile196Thr	rs140200727	missense variant	-	NC_000004.12:g.147532544T>C	ESP,TOPMed
EDNRA	P25101	p.Ile204Val	rs1188302838	missense variant	-	NC_000004.12:g.147532567A>G	gnomAD
EDNRA	P25101	p.Ile209Val	rs771740107	missense variant	-	NC_000004.12:g.147532582A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ala217Ser	rs1418152292	missense variant	-	NC_000004.12:g.147532606G>T	gnomAD
EDNRA	P25101	p.Glu220Lys	rs761044752	missense variant	-	NC_000004.12:g.147532615G>A	ExAC,gnomAD
EDNRA	P25101	p.Glu220Asp	rs1156308413	missense variant	-	NC_000004.12:g.147532617A>T	gnomAD
EDNRA	P25101	p.Ala221Thr	rs1333103798	missense variant	-	NC_000004.12:g.147532618G>A	TOPMed
EDNRA	P25101	p.Ala221Val	rs905733945	missense variant	-	NC_000004.12:g.147532619C>T	TOPMed,gnomAD
EDNRA	P25101	p.Ile222Val	rs777240969	missense variant	-	NC_000004.12:g.147532621A>G	ExAC,gnomAD
EDNRA	P25101	p.Gly223Ala	rs1365947741	missense variant	-	NC_000004.12:g.147532625G>C	TOPMed
EDNRA	P25101	p.Val225Ile	rs765457542	missense variant	-	NC_000004.12:g.147532630G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Met226Leu	rs543490260	missense variant	-	NC_000004.12:g.147532633A>C	1000Genomes,ExAC,gnomAD
EDNRA	P25101	p.Met226Val	rs543490260	missense variant	-	NC_000004.12:g.147532633A>G	1000Genomes,ExAC,gnomAD
EDNRA	P25101	p.Glu230Lys	rs1281341172	missense variant	-	NC_000004.12:g.147532645G>A	gnomAD
EDNRA	P25101	p.Gly233Asp	rs766555186	missense variant	-	NC_000004.12:g.147532655G>A	ExAC,gnomAD
EDNRA	P25101	p.Gln235His	rs1278852665	missense variant	-	NC_000004.12:g.147532662G>C	gnomAD
EDNRA	P25101	p.His236Arg	rs368282326	missense variant	-	NC_000004.12:g.147532664A>G	ESP,TOPMed
EDNRA	P25101	p.Asn242Ser	rs988548579	missense variant	-	NC_000004.12:g.147532682A>G	TOPMed
EDNRA	P25101	p.Ala243Pro	rs752446511	missense variant	-	NC_000004.12:g.147532684G>C	ExAC,gnomAD
EDNRA	P25101	p.Ala243Gly	rs755889200	missense variant	-	NC_000004.12:g.147532685C>G	ExAC,gnomAD
EDNRA	P25101	p.Ser245Pro	rs983062132	missense variant	-	NC_000004.12:g.147532690T>C	gnomAD
EDNRA	P25101	p.Met248Leu	rs200425226	missense variant	-	NC_000004.12:g.147532699A>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Met248Val	rs200425226	missense variant	-	NC_000004.12:g.147532699A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Phe250Tyr	rs745396045	missense variant	-	NC_000004.12:g.147535878T>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Phe250Ser	rs745396045	missense variant	-	NC_000004.12:g.147535878T>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Gln252His	rs1469453376	missense variant	-	NC_000004.12:g.147535885A>C	gnomAD
EDNRA	P25101	p.Gln252Arg	rs757888386	missense variant	-	NC_000004.12:g.147535884A>G	ExAC,gnomAD
EDNRA	P25101	p.Val254Gly	rs1242317099	missense variant	-	NC_000004.12:g.147535890T>G	TOPMed
EDNRA	P25101	p.Trp257Ter	rs1208378265	stop gained	-	NC_000004.12:g.147535899G>A	gnomAD
EDNRA	P25101	p.Leu259Phe	rs746724758	missense variant	-	NC_000004.12:g.147535904C>T	ExAC,gnomAD
EDNRA	P25101	p.Met266Val	rs906400370	missense variant	-	NC_000004.12:g.147535925A>G	TOPMed,gnomAD
EDNRA	P25101	p.Ala272Val	rs1462059537	missense variant	-	NC_000004.12:g.147535944C>T	gnomAD
EDNRA	P25101	p.Thr276Ala	rs1437262074	missense variant	-	NC_000004.12:g.147535955A>G	TOPMed
EDNRA	P25101	p.Cys280Tyr	rs1159236679	missense variant	-	NC_000004.12:g.147535968G>A	TOPMed,gnomAD
EDNRA	P25101	p.Asn287Asp	rs200016399	missense variant	-	NC_000004.12:g.147535988A>G	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Asn287Ser	rs1232272668	missense variant	-	NC_000004.12:g.147535989A>G	gnomAD
EDNRA	P25101	p.Leu290Trp	rs753632116	missense variant	-	NC_000004.12:g.147535998T>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.His297Arg	rs761549167	missense variant	-	NC_000004.12:g.147536019A>G	ExAC,gnomAD
EDNRA	P25101	p.His297Tyr	rs1260007754	missense variant	-	NC_000004.12:g.147536018C>T	gnomAD
EDNRA	P25101	p.Gln300Ter	rs1218958699	stop gained	-	NC_000004.12:g.147536027C>T	TOPMed
EDNRA	P25101	p.Arg301His	rs750171725	missense variant	-	NC_000004.12:g.147539818G>A	ExAC,gnomAD
EDNRA	P25101	p.Arg302Gln	rs763015080	missense variant	-	NC_000004.12:g.147539821G>A	ExAC,gnomAD
EDNRA	P25101	p.Glu303Lys	rs876657388	missense variant	-	NC_000004.12:g.147539823G>A	-
EDNRA	P25101	p.Glu303Lys	rs876657388	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147539823G>A	UniProt,dbSNP
EDNRA	P25101	p.Glu303Lys	VAR_073789	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147539823G>A	UniProt
EDNRA	P25101	p.Glu303Lys	RCV000170510	missense variant	Mandibulofacial dysostosis with alopecia (MFDA)	NC_000004.12:g.147539823G>A	ClinVar
EDNRA	P25101	p.Val308Ile	rs754487764	missense variant	-	NC_000004.12:g.147539838G>A	ExAC,gnomAD
EDNRA	P25101	p.Ala316Asp	rs781021302	missense variant	-	NC_000004.12:g.147539863C>A	ExAC
EDNRA	P25101	p.Leu317Phe	rs202191899	missense variant	-	NC_000004.12:g.147539865C>T	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Leu317Val	rs202191899	missense variant	-	NC_000004.12:g.147539865C>G	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg326His	rs1204047804	missense variant	-	NC_000004.12:g.147539893G>A	TOPMed,gnomAD
EDNRA	P25101	p.Glu335Lys	rs771470596	missense variant	-	NC_000004.12:g.147539919G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Glu335Gln	rs771470596	missense variant	-	NC_000004.12:g.147539919G>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Glu335Val	rs1394625720	missense variant	-	NC_000004.12:g.147539920A>T	gnomAD
EDNRA	P25101	p.Met336Thr	rs369936798	missense variant	-	NC_000004.12:g.147539923T>C	ESP,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Lys338Asn	rs772182861	missense variant	-	NC_000004.12:g.147539930G>C	ExAC,gnomAD
EDNRA	P25101	p.Lys338Asn	rs772182861	missense variant	-	NC_000004.12:g.147539930G>T	ExAC,gnomAD
EDNRA	P25101	p.Asn339Asp	rs1456328796	missense variant	-	NC_000004.12:g.147539931A>G	TOPMed
EDNRA	P25101	p.Arg340Gln	rs200318138	missense variant	-	NC_000004.12:g.147539935G>A	ExAC,gnomAD
EDNRA	P25101	p.Glu342Lys	rs747289151	missense variant	-	NC_000004.12:g.147539940G>A	ExAC,gnomAD
EDNRA	P25101	p.Leu349Phe	rs1196002441	missense variant	-	NC_000004.12:g.147540387C>T	TOPMed,gnomAD
EDNRA	P25101	p.Tyr352His	rs1247822547	missense variant	-	NC_000004.12:g.147540396T>C	gnomAD
EDNRA	P25101	p.Gly354Ser	rs201758871	missense variant	-	NC_000004.12:g.147540402G>A	1000Genomes,ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ile355Val	rs1422176394	missense variant	-	NC_000004.12:g.147540405A>G	gnomAD
EDNRA	P25101	p.Asn356Asp	rs746426917	missense variant	-	NC_000004.12:g.147540408A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Met360Ile	rs1459435838	missense variant	-	NC_000004.12:g.147540422G>T	TOPMed,gnomAD
EDNRA	P25101	p.Cys363Ser	rs780175310	missense variant	-	NC_000004.12:g.147540430G>C	ExAC,gnomAD
EDNRA	P25101	p.Ala368Thr	rs201117684	missense variant	-	NC_000004.12:g.147540444G>A	1000Genomes,ExAC,gnomAD
EDNRA	P25101	p.Tyr370His	rs768938796	missense variant	-	NC_000004.12:g.147540450T>C	ExAC,gnomAD
EDNRA	P25101	p.Phe371Ile	rs754065595	missense variant	-	NC_000004.12:g.147540453T>A	gnomAD
EDNRA	P25101	p.Lys375Glu	rs749137757	missense variant	-	NC_000004.12:g.147540465A>G	ExAC,gnomAD
EDNRA	P25101	p.Gln381Pro	rs1219791712	missense variant	-	NC_000004.12:g.147540484A>C	TOPMed
EDNRA	P25101	p.Gln381Pro	RCV000786025	missense variant	-	NC_000004.12:g.147540484A>C	ClinVar
EDNRA	P25101	p.Ser382Leu	rs1370995465	missense variant	-	NC_000004.12:g.147542479C>T	TOPMed
EDNRA	P25101	p.Cys386Tyr	rs1226849198	missense variant	-	NC_000004.12:g.147542491G>A	gnomAD
EDNRA	P25101	p.Ser391Cys	rs778918018	missense variant	-	NC_000004.12:g.147542506C>G	ExAC,gnomAD
EDNRA	P25101	p.Lys392Glu	rs1328127839	missense variant	-	NC_000004.12:g.147542508A>G	TOPMed
EDNRA	P25101	p.Met395Ile	rs1286984998	missense variant	-	NC_000004.12:g.147542519G>A	gnomAD
EDNRA	P25101	p.Met395Leu	rs1203866800	missense variant	-	NC_000004.12:g.147542517A>T	gnomAD
EDNRA	P25101	p.Thr396Asn	rs772147672	missense variant	-	NC_000004.12:g.147542521C>A	ExAC,gnomAD
EDNRA	P25101	p.Ser397Leu	rs775518063	missense variant	-	NC_000004.12:g.147542524C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Met400Val	rs1393761572	missense variant	-	NC_000004.12:g.147542532A>G	TOPMed
EDNRA	P25101	p.Gly402Ala	rs768101596	missense variant	-	NC_000004.12:g.147542539G>C	ExAC,gnomAD
EDNRA	P25101	p.Thr403Ala	rs1160552352	missense variant	-	NC_000004.12:g.147542541A>G	TOPMed
EDNRA	P25101	p.Ile405Val	rs1368512467	missense variant	-	NC_000004.12:g.147542547A>G	gnomAD
EDNRA	P25101	p.Gln406Pro	rs1343329605	missense variant	-	NC_000004.12:g.147542551A>C	gnomAD
EDNRA	P25101	p.His410Tyr	rs565590856	missense variant	-	NC_000004.12:g.147542562C>T	gnomAD
EDNRA	P25101	p.Asp411Asn	rs1156690632	missense variant	-	NC_000004.12:g.147542565G>A	gnomAD
EDNRA	P25101	p.Asn416Ser	rs1420008805	missense variant	-	NC_000004.12:g.147542581A>G	gnomAD
EDNRA	P25101	p.Asp418Ala	rs776193470	missense variant	-	NC_000004.12:g.147542587A>C	ExAC
EDNRA	P25101	p.Arg419Trp	rs761439706	missense variant	-	NC_000004.12:g.147542589C>T	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Arg419Gln	rs200104039	missense variant	-	NC_000004.12:g.147542590G>A	ExAC,gnomAD
EDNRA	P25101	p.Ser420Thr	rs200945454	missense variant	-	NC_000004.12:g.147542593G>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser420Asn	rs200945454	missense variant	-	NC_000004.12:g.147542593G>A	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Ser421Asn	rs1236993316	missense variant	-	NC_000004.12:g.147542596G>A	gnomAD
EDNRA	P25101	p.His422Arg	rs763257382	missense variant	-	NC_000004.12:g.147542599A>G	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.His422Tyr	rs1281717406	missense variant	-	NC_000004.12:g.147542598C>T	gnomAD
EDNRA	P25101	p.His422Pro	rs763257382	missense variant	-	NC_000004.12:g.147542599A>C	ExAC,TOPMed,gnomAD
EDNRA	P25101	p.Lys423Asn	rs899115126	missense variant	-	NC_000004.12:g.147542603G>C	TOPMed
EDNRA	P25101	p.Asp424His	rs1278609613	missense variant	-	NC_000004.12:g.147542604G>C	gnomAD
EDNRA	P25101	p.Asp424Asn	rs1278609613	missense variant	-	NC_000004.12:g.147542604G>A	gnomAD
EDNRA	P25101	p.Asp424Tyr	rs1278609613	missense variant	-	NC_000004.12:g.147542604G>T	gnomAD
EDNRA	P25101	p.Ser425Thr	rs202195925	missense variant	-	NC_000004.12:g.147542608G>C	TOPMed
EDNRA	P25101	p.Met426Ile	rs1201780967	missense variant	-	NC_000004.12:g.147542612G>A	gnomAD
EDNRA	P25101	p.Met426Val	rs1350558296	missense variant	-	NC_000004.12:g.147542610A>G	gnomAD
EDNRA	P25101	p.Asn427Ser	rs866965609	missense variant	-	NC_000004.12:g.147542614A>G	gnomAD
EDNRA	P25101	p.Asn427Thr	rs866965609	missense variant	-	NC_000004.12:g.147542614A>C	gnomAD
ITGB8	P26012	p.Cys2Gly	rs1335251881	missense variant	-	NC_000007.14:g.20331810T>G	gnomAD
ITGB8	P26012	p.Gly3Cys	rs760731578	missense variant	-	NC_000007.14:g.20331813G>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly3Arg	rs760731578	missense variant	-	NC_000007.14:g.20331813G>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly3Ser	rs760731578	missense variant	-	NC_000007.14:g.20331813G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser4Leu	rs766864266	missense variant	-	NC_000007.14:g.20331817C>T	ExAC,gnomAD
ITGB8	P26012	p.Ala5Pro	rs759866167	missense variant	-	NC_000007.14:g.20331819G>C	ExAC,gnomAD
ITGB8	P26012	p.Ala7Thr	rs947046008	missense variant	-	NC_000007.14:g.20331825G>A	gnomAD
ITGB8	P26012	p.Phe8Val	rs765588213	missense variant	-	NC_000007.14:g.20331828T>G	ExAC,gnomAD
ITGB8	P26012	p.Phe9LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20331827T>-	NCI-TCGA
ITGB8	P26012	p.Phe9Tyr	rs1291693476	missense variant	-	NC_000007.14:g.20331832T>A	TOPMed
ITGB8	P26012	p.Thr10TyrPheSerTerUnkUnk	rs760028800	frameshift	-	NC_000007.14:g.20331826_20331827insT	NCI-TCGA,NCI-TCGA Cosmic
ITGB8	P26012	p.Ala11Ser	rs377149985	missense variant	-	NC_000007.14:g.20331837G>T	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val14Ala	rs751170356	missense variant	-	NC_000007.14:g.20331847T>C	ExAC,gnomAD
ITGB8	P26012	p.Val14Ile	rs1440721447	missense variant	-	NC_000007.14:g.20331846G>A	TOPMed
ITGB8	P26012	p.Cys15Tyr	rs1330014152	missense variant	-	NC_000007.14:g.20331850G>A	TOPMed
ITGB8	P26012	p.Leu16Pro	rs1358724377	missense variant	-	NC_000007.14:g.20331853T>C	gnomAD
ITGB8	P26012	p.Leu16Arg	rs1358724377	missense variant	-	NC_000007.14:g.20331853T>G	gnomAD
ITGB8	P26012	p.Gln17Pro	rs571285259	missense variant	-	NC_000007.14:g.20331856A>C	1000Genomes,ExAC,gnomAD
ITGB8	P26012	p.Asp19Glu	rs781042261	missense variant	-	NC_000007.14:g.20331863C>G	ExAC,gnomAD
ITGB8	P26012	p.Asp19Tyr	rs755261315	missense variant	-	NC_000007.14:g.20331861G>T	TOPMed
ITGB8	P26012	p.Arg20Trp	rs1384689572	missense variant	-	NC_000007.14:g.20331864C>T	gnomAD
ITGB8	P26012	p.Arg20Gln	rs745772377	missense variant	-	NC_000007.14:g.20331865G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg21Gly	rs755896757	missense variant	-	NC_000007.14:g.20331867C>G	ExAC,gnomAD
ITGB8	P26012	p.Arg21Leu	rs1166654295	missense variant	-	NC_000007.14:g.20331868G>T	TOPMed
ITGB8	P26012	p.Gly22Asp	rs779835689	missense variant	-	NC_000007.14:g.20331871G>A	ExAC,gnomAD
ITGB8	P26012	p.Pro23Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20331874C>T	NCI-TCGA
ITGB8	P26012	p.Pro23Ser	rs1284338582	missense variant	-	NC_000007.14:g.20331873C>T	gnomAD
ITGB8	P26012	p.Ser25Leu	rs747133643	missense variant	-	NC_000007.14:g.20331880C>T	ExAC,gnomAD
ITGB8	P26012	p.Phe26Leu	rs777025484	missense variant	-	NC_000007.14:g.20331884C>A	ExAC,gnomAD
ITGB8	P26012	p.Leu27Pro	rs760047206	missense variant	-	NC_000007.14:g.20331886T>C	ExAC,gnomAD
ITGB8	P26012	p.Trp28Ter	rs1471278876	stop gained	-	NC_000007.14:g.20331890G>A	gnomAD
ITGB8	P26012	p.Ala30Val	rs934084295	missense variant	-	NC_000007.14:g.20331895C>T	TOPMed,gnomAD
ITGB8	P26012	p.Trp31Arg	rs1178721432	missense variant	-	NC_000007.14:g.20331897T>C	gnomAD
ITGB8	P26012	p.Phe33Leu	rs1453299245	missense variant	-	NC_000007.14:g.20331905T>G	gnomAD
ITGB8	P26012	p.Leu35Val	rs1333830210	missense variant	-	NC_000007.14:g.20331909C>G	gnomAD
ITGB8	P26012	p.Leu37Pro	rs952679336	missense variant	-	NC_000007.14:g.20331916T>C	TOPMed
ITGB8	P26012	p.Leu37Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20331915C>T	NCI-TCGA
ITGB8	P26012	p.Leu37Val	rs758903592	missense variant	-	NC_000007.14:g.20331915C>G	ExAC,gnomAD
ITGB8	P26012	p.Gly38Glu	rs756743474	missense variant	-	NC_000007.14:g.20331919G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Leu39Pro	rs750337028	missense variant	-	NC_000007.14:g.20331922T>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly40Asp	rs1169982777	missense variant	-	NC_000007.14:g.20331925G>A	TOPMed
ITGB8	P26012	p.Gly40Ala	rs1169982777	missense variant	-	NC_000007.14:g.20331925G>C	TOPMed
ITGB8	P26012	p.Gln41Arg	rs1023838873	missense variant	-	NC_000007.14:g.20331928A>G	TOPMed,gnomAD
ITGB8	P26012	p.Gly42Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20331930G>T	NCI-TCGA
ITGB8	P26012	p.Glu43Ala	COSM3374591	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20363637A>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Glu43Lys	rs1439972744	missense variant	-	NC_000007.14:g.20331933G>A	gnomAD
ITGB8	P26012	p.Asn45Asp	rs1231060338	missense variant	-	NC_000007.14:g.20363642A>G	TOPMed
ITGB8	P26012	p.Cys47Tyr	rs760099409	missense variant	-	NC_000007.14:g.20363649G>A	ExAC,gnomAD
ITGB8	P26012	p.Ala48Thr	rs1371226879	missense variant	-	NC_000007.14:g.20363651G>A	gnomAD
ITGB8	P26012	p.Ser49Thr	rs753755639	missense variant	-	NC_000007.14:g.20363654T>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser50Leu	rs1364805487	missense variant	-	NC_000007.14:g.20363658C>T	gnomAD
ITGB8	P26012	p.Ser54Cys	rs778638265	missense variant	-	NC_000007.14:g.20363670C>G	ExAC
ITGB8	P26012	p.Cys55Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20363673G>T	NCI-TCGA
ITGB8	P26012	p.Ala56Gly	rs1213374677	missense variant	-	NC_000007.14:g.20363676C>G	TOPMed
ITGB8	P26012	p.Ala56Thr	COSM745561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20363675G>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Arg57Trp	rs1304635518	missense variant	-	NC_000007.14:g.20363678A>T	TOPMed,gnomAD
ITGB8	P26012	p.Arg57Lys	rs376774573	missense variant	-	NC_000007.14:g.20363679G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg57Ser	rs781253213	missense variant	-	NC_000007.14:g.20363680G>T	ExAC,gnomAD
ITGB8	P26012	p.Arg57Met	rs376774573	missense variant	-	NC_000007.14:g.20363679G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Leu59Val	rs1050009528	missense variant	-	NC_000007.14:g.20363684C>G	TOPMed,gnomAD
ITGB8	P26012	p.Leu59Phe	rs1050009528	missense variant	-	NC_000007.14:g.20363684C>T	TOPMed,gnomAD
ITGB8	P26012	p.Ala60Glu	rs571679699	missense variant	-	NC_000007.14:g.20363688C>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ala60Val	rs571679699	missense variant	-	NC_000007.14:g.20363688C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Leu61Met	rs1228794906	missense variant	-	NC_000007.14:g.20363690C>A	gnomAD
ITGB8	P26012	p.Gly62Arg	rs202110087	missense variant	-	NC_000007.14:g.20363693G>C	TOPMed
ITGB8	P26012	p.Pro63Leu	rs1325615146	missense variant	-	NC_000007.14:g.20363697C>T	TOPMed
ITGB8	P26012	p.Cys65Ser	rs1433915572	missense variant	-	NC_000007.14:g.20363702T>A	TOPMed
ITGB8	P26012	p.Cys65Arg	rs1433915572	missense variant	-	NC_000007.14:g.20363702T>C	TOPMed
ITGB8	P26012	p.Trp67Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.20363710G>A	NCI-TCGA
ITGB8	P26012	p.Val69Ile	rs1164896689	missense variant	-	NC_000007.14:g.20363714G>A	TOPMed
ITGB8	P26012	p.Gln70Ter	COSM3637142	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20363717C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Glu71Val	rs1292827901	missense variant	-	NC_000007.14:g.20363721A>T	gnomAD
ITGB8	P26012	p.Glu71Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20363720G>C	NCI-TCGA
ITGB8	P26012	p.Asp72Asn	rs367941451	missense variant	-	NC_000007.14:g.20367012G>A	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp72His	rs367941451	missense variant	-	NC_000007.14:g.20367012G>C	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp72Gly	rs1457346592	missense variant	-	NC_000007.14:g.20367013A>G	TOPMed,gnomAD
ITGB8	P26012	p.Phe73Leu	COSM3637144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20367015T>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Ser75Leu	rs772942592	missense variant	-	NC_000007.14:g.20367022C>T	ExAC,gnomAD
ITGB8	P26012	p.Gly76Asp	rs376359729	missense variant	-	NC_000007.14:g.20367025G>A	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly76Ser	rs1043847616	missense variant	-	NC_000007.14:g.20367024G>A	TOPMed
ITGB8	P26012	p.Gly77Glu	rs770431158	missense variant	-	NC_000007.14:g.20367028G>A	ExAC,gnomAD
ITGB8	P26012	p.Ser78Pro	rs199664019	missense variant	-	NC_000007.14:g.20367030T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser80Arg	rs759033015	missense variant	-	NC_000007.14:g.20367036A>C	ExAC,gnomAD
ITGB8	P26012	p.Glu81Lys	rs1034995435	missense variant	-	NC_000007.14:g.20367039G>A	TOPMed,gnomAD
ITGB8	P26012	p.Arg82His	rs369597972	missense variant	-	NC_000007.14:g.20367043G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg82Cys	rs765221616	missense variant	-	NC_000007.14:g.20367042C>T	ExAC,gnomAD
ITGB8	P26012	p.Cys83Arg	rs762853356	missense variant	-	NC_000007.14:g.20367045T>C	ExAC,gnomAD
ITGB8	P26012	p.Asp84His	rs372543006	missense variant	-	NC_000007.14:g.20367048G>C	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile85Thr	rs1205552822	missense variant	-	NC_000007.14:g.20367052T>C	gnomAD
ITGB8	P26012	p.Gly93Ser	rs756350539	missense variant	-	NC_000007.14:g.20367075G>A	ExAC,gnomAD
ITGB8	P26012	p.Gly93Ala	rs1252177451	missense variant	-	NC_000007.14:g.20367076G>C	gnomAD
ITGB8	P26012	p.Gly93Val	rs1252177451	missense variant	-	NC_000007.14:g.20367076G>T	gnomAD
ITGB8	P26012	p.Ile99Val	rs754038318	missense variant	-	NC_000007.14:g.20367093A>G	ExAC,gnomAD
ITGB8	P26012	p.Ile99Thr	rs989667857	missense variant	-	NC_000007.14:g.20367094T>C	TOPMed,gnomAD
ITGB8	P26012	p.Ser103Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20367106C>A	NCI-TCGA
ITGB8	P26012	p.His105Arg	COSM3880021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20367112A>G	NCI-TCGA Cosmic
ITGB8	P26012	p.Val106Ala	rs1289002764	missense variant	-	NC_000007.14:g.20367115T>C	gnomAD
ITGB8	P26012	p.Val106Leu	rs748557267	missense variant	-	NC_000007.14:g.20367114G>C	ExAC,gnomAD
ITGB8	P26012	p.Ile107Leu	rs142166758	missense variant	-	NC_000007.14:g.20367117A>T	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Pro109His	rs746674277	missense variant	-	NC_000007.14:g.20367124C>A	ExAC,gnomAD
ITGB8	P26012	p.Thr110Ile	rs1351281518	missense variant	-	NC_000007.14:g.20367127C>T	gnomAD
ITGB8	P26012	p.Glu111Asp	rs146738968	missense variant	-	NC_000007.14:g.20367131A>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asn112Lys	rs984897602	missense variant	-	NC_000007.14:g.20367134T>G	TOPMed,gnomAD
ITGB8	P26012	p.Glu113Asp	rs776261602	missense variant	-	NC_000007.14:g.20367137A>C	ExAC,gnomAD
ITGB8	P26012	p.Thr116Ala	rs745422214	missense variant	-	NC_000007.14:g.20367144A>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val118Leu	rs146348394	missense variant	-	NC_000007.14:g.20367150G>C	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val118Met	rs146348394	missense variant	-	NC_000007.14:g.20367150G>A	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val118Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20367151T>C	NCI-TCGA
ITGB8	P26012	p.Val118Leu	rs146348394	missense variant	-	NC_000007.14:g.20367150G>T	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Thr119Ile	rs762734819	missense variant	-	NC_000007.14:g.20367154C>T	ExAC
ITGB8	P26012	p.Gly121Arg	rs763965287	missense variant	-	NC_000007.14:g.20367159G>C	ExAC,TOPMed
ITGB8	P26012	p.Gly121Arg	rs763965287	missense variant	-	NC_000007.14:g.20367159G>A	ExAC,TOPMed
ITGB8	P26012	p.Glu122Gly	rs774346527	missense variant	-	NC_000007.14:g.20367163A>G	ExAC,TOPMed
ITGB8	P26012	p.Val123Met	rs761695849	missense variant	-	NC_000007.14:g.20367165G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val123Leu	rs761695849	missense variant	-	NC_000007.14:g.20367165G>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile125Thr	rs1358523631	missense variant	-	NC_000007.14:g.20367172T>C	TOPMed
ITGB8	P26012	p.Ile125Val	rs373295993	missense variant	-	NC_000007.14:g.20367171A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile125Leu	rs373295993	missense variant	-	NC_000007.14:g.20367171A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Leu127Pro	rs1221355611	missense variant	-	NC_000007.14:g.20367178T>C	gnomAD
ITGB8	P26012	p.Arg128Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20367181G>T	NCI-TCGA
ITGB8	P26012	p.Arg128His	rs139414321	missense variant	-	NC_000007.14:g.20367181G>A	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg128Cys	rs993855222	missense variant	-	NC_000007.14:g.20367180C>T	TOPMed,gnomAD
ITGB8	P26012	p.Gly130Arg	rs758770661	missense variant	-	NC_000007.14:g.20367186G>C	ExAC,gnomAD
ITGB8	P26012	p.Ala131Val	rs1012429237	missense variant	-	NC_000007.14:g.20379054C>T	gnomAD
ITGB8	P26012	p.Ala131Gly	rs1012429237	missense variant	-	NC_000007.14:g.20379054C>G	gnomAD
ITGB8	P26012	p.Glu132Lys	rs777027981	missense variant	-	NC_000007.14:g.20379056G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ala133Gly	rs759608538	missense variant	-	NC_000007.14:g.20379060C>G	ExAC,gnomAD
ITGB8	P26012	p.Phe135LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20379064T>-	NCI-TCGA
ITGB8	P26012	p.Met136Arg	rs765369722	missense variant	-	NC_000007.14:g.20379069T>G	ExAC,gnomAD
ITGB8	P26012	p.Met136Ile	rs374723970	missense variant	-	NC_000007.14:g.20379070G>C	ESP,ExAC,gnomAD
ITGB8	P26012	p.Met136Ile	rs374723970	missense variant	-	NC_000007.14:g.20379070G>A	ESP,ExAC,gnomAD
ITGB8	P26012	p.Lys138Gln	rs763080294	missense variant	-	NC_000007.14:g.20379074A>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val139Ile	rs764549421	missense variant	-	NC_000007.14:g.20379077G>A	ExAC,gnomAD
ITGB8	P26012	p.His140Tyr	COSM4493619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379080C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Pro141His	rs1035440608	missense variant	-	NC_000007.14:g.20379084C>A	TOPMed,gnomAD
ITGB8	P26012	p.Lys143Glu	rs757639450	missense variant	-	NC_000007.14:g.20379089A>G	ExAC,gnomAD
ITGB8	P26012	p.Lys143Asn	rs1218527045	missense variant	-	NC_000007.14:g.20379091G>T	TOPMed,gnomAD
ITGB8	P26012	p.Lys144Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20379092A>G	NCI-TCGA
ITGB8	P26012	p.Lys144Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20379092A>C	NCI-TCGA
ITGB8	P26012	p.Tyr145His	rs1249150331	missense variant	-	NC_000007.14:g.20379095T>C	gnomAD
ITGB8	P26012	p.Pro146Leu	rs1245360765	missense variant	-	NC_000007.14:g.20379099C>T	gnomAD
ITGB8	P26012	p.Pro146Ser	rs781494418	missense variant	-	NC_000007.14:g.20379098C>T	ExAC,gnomAD
ITGB8	P26012	p.Val147Met	rs1473246785	missense variant	-	NC_000007.14:g.20379101G>A	gnomAD
ITGB8	P26012	p.Leu149Phe	rs755782140	missense variant	-	NC_000007.14:g.20379107C>T	ExAC,gnomAD
ITGB8	P26012	p.Tyr151Asn	rs144386896	missense variant	-	NC_000007.14:g.20379113T>A	ESP,TOPMed
ITGB8	P26012	p.Val153Ile	rs148724162	missense variant	-	NC_000007.14:g.20379119G>A	ESP
ITGB8	P26012	p.Ala157Thr	COSM1088262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379131G>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Ser158Leu	COSM3637150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379135C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Asn162His	COSM3431468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379146A>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Asn162Asp	rs1351096129	missense variant	-	NC_000007.14:g.20379146A>G	TOPMed
ITGB8	P26012	p.Ile163Val	rs779753687	missense variant	-	NC_000007.14:g.20379149A>G	ExAC,gnomAD
ITGB8	P26012	p.Glu164Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20379152G>A	NCI-TCGA
ITGB8	P26012	p.Val169Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20379168T>G	NCI-TCGA
ITGB8	P26012	p.Val169Asp	rs779020009	missense variant	-	NC_000007.14:g.20379168T>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val169Ala	rs779020009	missense variant	-	NC_000007.14:g.20379168T>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val169Ile	rs768194871	missense variant	-	NC_000007.14:g.20379167G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly170Arg	rs1480929101	missense variant	-	NC_000007.14:g.20379170G>A	gnomAD
ITGB8	P26012	p.Gly170Ala	rs142263323	missense variant	-	NC_000007.14:g.20379171G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asn171His	rs985382525	missense variant	-	NC_000007.14:g.20379173A>C	gnomAD
ITGB8	P26012	p.Asp172Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20379176G>T	NCI-TCGA
ITGB8	P26012	p.Asp172Asn	rs943883720	missense variant	-	NC_000007.14:g.20379176G>A	TOPMed,gnomAD
ITGB8	P26012	p.Arg175Ser	COSM4929057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379187A>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Arg175Ile	rs1229651452	missense variant	-	NC_000007.14:g.20379186G>T	gnomAD
ITGB8	P26012	p.Phe180SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20379197T>-	NCI-TCGA
ITGB8	P26012	p.Phe180Val	rs1268230152	missense variant	-	NC_000007.14:g.20379200T>G	gnomAD
ITGB8	P26012	p.Arg182Gly	rs147908281	missense variant	-	NC_000007.14:g.20379206C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg182His	rs762991609	missense variant	-	NC_000007.14:g.20379207G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg182Cys	rs147908281	missense variant	-	NC_000007.14:g.20379206C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg185Cys	rs267601448	missense variant	-	NC_000007.14:g.20379215C>T	ExAC,gnomAD
ITGB8	P26012	p.Arg185His	rs762238509	missense variant	-	NC_000007.14:g.20379216G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg185Leu	rs762238509	missense variant	-	NC_000007.14:g.20379216G>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly189Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20379228G>T	NCI-TCGA
ITGB8	P26012	p.Tyr191His	rs563245593	missense variant	-	NC_000007.14:g.20379233T>C	1000Genomes
ITGB8	P26012	p.Val192Ala	COSM3832465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379237T>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Ser201Ile	COSM1088268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379264G>T	NCI-TCGA Cosmic
ITGB8	P26012	p.His203Gln	rs750820206	missense variant	-	NC_000007.14:g.20379271C>A	ExAC,gnomAD
ITGB8	P26012	p.Glu205Lys	rs1273987083	missense variant	-	NC_000007.14:g.20379275G>A	-
ITGB8	P26012	p.Arg206Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20379279G>T	NCI-TCGA
ITGB8	P26012	p.Arg206Thr	COSM3637154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379279G>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Asn209Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20379288A>C	NCI-TCGA
ITGB8	P26012	p.Asp213Gly	rs1402499859	missense variant	-	NC_000007.14:g.20380668A>G	gnomAD
ITGB8	P26012	p.Asn215Asp	COSM3411897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20380673A>G	NCI-TCGA Cosmic
ITGB8	P26012	p.Asn215His	COSM3880023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20380673A>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Asn215Ser	rs1332113756	missense variant	-	NC_000007.14:g.20380674A>G	gnomAD
ITGB8	P26012	p.Asp217Asn	rs1227422073	missense variant	-	NC_000007.14:g.20380679G>A	gnomAD
ITGB8	P26012	p.Cys218Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20380683G>C	NCI-TCGA
ITGB8	P26012	p.Met219Leu	rs774473745	missense variant	-	NC_000007.14:g.20380685A>C	ExAC,gnomAD
ITGB8	P26012	p.Met219Ile	rs761878183	missense variant	-	NC_000007.14:g.20380687G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Pro220Arg	rs768053112	missense variant	-	NC_000007.14:g.20380689C>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Pro220Leu	rs768053112	missense variant	-	NC_000007.14:g.20380689C>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Pro221Ser	COSM3307579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20380691C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Gly223Glu	rs1291267468	missense variant	-	NC_000007.14:g.20380698G>A	gnomAD
ITGB8	P26012	p.Tyr224His	rs1489928691	missense variant	-	NC_000007.14:g.20380700T>C	gnomAD
ITGB8	P26012	p.Ile225Leu	rs200991047	missense variant	-	NC_000007.14:g.20380703A>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile225Asn	rs1268157375	missense variant	-	NC_000007.14:g.20380704T>A	gnomAD
ITGB8	P26012	p.Ile225Met	rs760973255	missense variant	-	NC_000007.14:g.20380705C>G	ExAC,gnomAD
ITGB8	P26012	p.His226Tyr	COSM3637158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20380706C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.His226Asn	rs1216185478	missense variant	-	NC_000007.14:g.20380706C>A	TOPMed
ITGB8	P26012	p.Val227Met	rs766729168	missense variant	-	NC_000007.14:g.20380709G>A	ExAC,gnomAD
ITGB8	P26012	p.Thr231Ser	rs147814088	missense variant	-	NC_000007.14:g.20380721A>T	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Thr235Asn	rs1355869654	missense variant	-	NC_000007.14:g.20380734C>A	TOPMed,gnomAD
ITGB8	P26012	p.Glu238Asp	rs370739263	missense variant	-	NC_000007.14:g.20380744G>C	ESP,ExAC,gnomAD
ITGB8	P26012	p.Glu238Gly	rs1451144496	missense variant	-	NC_000007.14:g.20380743A>G	gnomAD
ITGB8	P26012	p.Lys239Glu	rs1016504726	missense variant	-	NC_000007.14:g.20380745A>G	TOPMed
ITGB8	P26012	p.Arg243Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20380759A>C	NCI-TCGA
ITGB8	P26012	p.Ser247Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20380770C>A	NCI-TCGA
ITGB8	P26012	p.Ile250Leu	rs374405070	missense variant	-	NC_000007.14:g.20380778A>C	ESP,ExAC,gnomAD
ITGB8	P26012	p.Gly256Ser	rs1225819910	missense variant	-	NC_000007.14:g.20380796G>A	TOPMed
ITGB8	P26012	p.Asp258Gly	rs1346554251	missense variant	-	NC_000007.14:g.20380803A>G	TOPMed
ITGB8	P26012	p.Ala259Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20380805G>A	NCI-TCGA
ITGB8	P26012	p.Ala259ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20380805G>-	NCI-TCGA
ITGB8	P26012	p.Met260Thr	rs202048761	missense variant	-	NC_000007.14:g.20380809T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gln262Glu	rs780972981	missense variant	-	NC_000007.14:g.20380814C>G	ExAC,gnomAD
ITGB8	P26012	p.Glu267Gly	rs749484137	missense variant	-	NC_000007.14:g.20380830A>G	ExAC,gnomAD
ITGB8	P26012	p.Glu267Asp	rs768936255	missense variant	-	NC_000007.14:g.20380831A>C	ExAC,gnomAD
ITGB8	P26012	p.Ser268Asn	rs1270096990	missense variant	-	NC_000007.14:g.20381728G>A	TOPMed,gnomAD
ITGB8	P26012	p.His269Tyr	rs780988930	missense variant	-	NC_000007.14:g.20381730C>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.His269Arg	rs558349898	missense variant	-	NC_000007.14:g.20381731A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile270Leu	rs1262252016	missense variant	-	NC_000007.14:g.20381733A>C	gnomAD
ITGB8	P26012	p.Gly271Val	rs1256359394	missense variant	-	NC_000007.14:g.20381737G>T	gnomAD
ITGB8	P26012	p.Gly271Ala	rs1256359394	missense variant	-	NC_000007.14:g.20381737G>C	gnomAD
ITGB8	P26012	p.Gly271Arg	COSM3880025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20381736G>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Gly271Arg	rs373968311	missense variant	-	NC_000007.14:g.20381736G>A	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Trp272Cys	rs1413621738	missense variant	-	NC_000007.14:g.20381741G>C	gnomAD
ITGB8	P26012	p.Arg273Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.20381742C>T	NCI-TCGA
ITGB8	P26012	p.Arg273Gly	rs140287178	missense variant	-	NC_000007.14:g.20381742C>G	ESP,ExAC
ITGB8	P26012	p.Arg273Gln	rs777853575	missense variant	-	NC_000007.14:g.20381743G>A	ExAC,gnomAD
ITGB8	P26012	p.Glu275Lys	rs771531947	missense variant	-	NC_000007.14:g.20381748G>A	ExAC,gnomAD
ITGB8	P26012	p.Glu275Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.20381748G>T	NCI-TCGA
ITGB8	P26012	p.Glu275Gln	rs771531947	missense variant	-	NC_000007.14:g.20381748G>C	ExAC,gnomAD
ITGB8	P26012	p.Lys277Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.20381754A>T	NCI-TCGA
ITGB8	P26012	p.Arg278Ile	COSM1088274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20381758G>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Val282Leu	rs1395958493	missense variant	-	NC_000007.14:g.20381769G>T	gnomAD
ITGB8	P26012	p.Met283Ile	rs760023104	missense variant	-	NC_000007.14:g.20381774G>A	ExAC,gnomAD
ITGB8	P26012	p.Met283Thr	rs1389953179	missense variant	-	NC_000007.14:g.20381773T>C	gnomAD
ITGB8	P26012	p.Asp285Glu	rs1228896793	missense variant	-	NC_000007.14:g.20381780T>A	gnomAD
ITGB8	P26012	p.Thr287Met	rs775311931	missense variant	-	NC_000007.14:g.20381785C>T	ExAC,gnomAD
ITGB8	P26012	p.Ala291Thr	rs977987906	missense variant	-	NC_000007.14:g.20381796G>A	-
ITGB8	P26012	p.Leu292Phe	rs1185988808	missense variant	-	NC_000007.14:g.20381799C>T	TOPMed
ITGB8	P26012	p.Leu292Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20381799C>G	NCI-TCGA
ITGB8	P26012	p.Leu292Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20381799C>A	NCI-TCGA
ITGB8	P26012	p.Ser294Ile	rs1443454033	missense variant	-	NC_000007.14:g.20381806G>T	TOPMed
ITGB8	P26012	p.Ala297Ser	rs573500863	missense variant	-	NC_000007.14:g.20381814G>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ala297Gly	rs761198562	missense variant	-	NC_000007.14:g.20381815C>G	ExAC,gnomAD
ITGB8	P26012	p.Ile299Leu	rs1253318347	missense variant	-	NC_000007.14:g.20381820A>C	gnomAD
ITGB8	P26012	p.Ile299Thr	rs372329277	missense variant	-	NC_000007.14:g.20381821T>C	ESP
ITGB8	P26012	p.Asn303Thr	rs1472657201	missense variant	-	NC_000007.14:g.20381833A>C	gnomAD
ITGB8	P26012	p.Gly305Ala	rs750312968	missense variant	-	NC_000007.14:g.20381839G>C	ExAC,gnomAD
ITGB8	P26012	p.Gly305Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20381838G>A	NCI-TCGA
ITGB8	P26012	p.Gly305Glu	rs750312968	missense variant	-	NC_000007.14:g.20381839G>A	ExAC,gnomAD
ITGB8	P26012	p.Cys307Arg	rs1177237841	missense variant	-	NC_000007.14:g.20381844T>C	gnomAD
ITGB8	P26012	p.Leu309Met	rs752932121	missense variant	-	NC_000007.14:g.20381850C>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asn311Ser	rs1356666582	missense variant	-	NC_000007.14:g.20381857A>G	TOPMed
ITGB8	P26012	p.Val313Phe	rs750762159	missense variant	-	NC_000007.14:g.20381862G>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val313Ile	rs750762159	missense variant	-	NC_000007.14:g.20381862G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Tyr314Ter	rs2230398	stop gained	-	NC_000007.14:g.20381867T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Tyr314Ter	rs2230398	stop gained	-	NC_000007.14:g.20381867T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val315Ile	rs1353670408	missense variant	-	NC_000007.14:g.20381868G>A	TOPMed,gnomAD
ITGB8	P26012	p.Met320Thr	rs202112669	missense variant	-	NC_000007.14:g.20381884T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.His322Tyr	rs774084785	missense variant	-	NC_000007.14:g.20391406C>T	ExAC,gnomAD
ITGB8	P26012	p.Gly326Ser	rs747692264	missense variant	-	NC_000007.14:g.20391418G>A	ExAC,gnomAD
ITGB8	P26012	p.Leu328Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20391424C>G	NCI-TCGA
ITGB8	P26012	p.Glu330Val	rs752386964	missense variant	-	NC_000007.14:g.20391431A>T	ExAC,gnomAD
ITGB8	P26012	p.Glu330Lys	rs1444224298	missense variant	-	NC_000007.14:g.20391430G>A	gnomAD
ITGB8	P26012	p.Glu330Ter	COSM6109815	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20391430G>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Glu330Asp	COSM1088277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20391432G>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Glu330Gly	rs752386964	missense variant	-	NC_000007.14:g.20391431A>G	ExAC,gnomAD
ITGB8	P26012	p.Ile333Thr	rs776525686	missense variant	-	NC_000007.14:g.20391440T>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp334Gly	COSM452826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20391443A>G	NCI-TCGA Cosmic
ITGB8	P26012	p.Asp334Tyr	COSM3431470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20391442G>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Asn336Lys	rs759393602	missense variant	-	NC_000007.14:g.20391450C>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile337Thr	rs1376354774	missense variant	-	NC_000007.14:g.20391452T>C	TOPMed
ITGB8	P26012	p.Ala342Val	rs1460420542	missense variant	-	NC_000007.14:g.20391467C>T	gnomAD
ITGB8	P26012	p.Val343Ile	rs1182424227	missense variant	-	NC_000007.14:g.20391469G>A	gnomAD
ITGB8	P26012	p.Gly345Glu	COSM3637164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20391476G>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Gly345Arg	rs1385264694	missense variant	-	NC_000007.14:g.20391475G>A	gnomAD
ITGB8	P26012	p.Lys346Arg	rs1387744007	missense variant	-	NC_000007.14:g.20391479A>G	gnomAD
ITGB8	P26012	p.Gln347Arg	rs1455583671	missense variant	-	NC_000007.14:g.20391482A>G	gnomAD
ITGB8	P26012	p.His349Tyr	rs1454481851	missense variant	-	NC_000007.14:g.20391487C>T	TOPMed
ITGB8	P26012	p.Asp353Asn	COSM3637168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20394896G>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Asp353Val	rs1184584459	missense variant	-	NC_000007.14:g.20394897A>T	TOPMed
ITGB8	P26012	p.Pro356Thr	rs138593316	missense variant	-	NC_000007.14:g.20394905C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Pro356Ser	rs138593316	missense variant	-	NC_000007.14:g.20394905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Leu357Phe	rs1471555689	missense variant	-	NC_000007.14:g.20394908C>T	gnomAD
ITGB8	P26012	p.Pro359Leu	COSM3923330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20394915C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Pro359Thr	rs1217543193	missense variant	-	NC_000007.14:g.20394914C>A	TOPMed
ITGB8	P26012	p.Thr361Ile	rs1161335166	missense variant	-	NC_000007.14:g.20394921C>T	gnomAD
ITGB8	P26012	p.Ile362Thr	rs770376138	missense variant	-	NC_000007.14:g.20394924T>C	ExAC,gnomAD
ITGB8	P26012	p.Ala363Thr	rs1337335166	missense variant	-	NC_000007.14:g.20394926G>A	gnomAD
ITGB8	P26012	p.Gly364Asp	rs546211111	missense variant	-	NC_000007.14:g.20394930G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly364Ser	rs1341098331	missense variant	-	NC_000007.14:g.20394929G>A	gnomAD
ITGB8	P26012	p.Ile366Met	rs201243170	missense variant	-	NC_000007.14:g.20394937A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Glu367Lys	rs1236136130	missense variant	-	NC_000007.14:g.20394938G>A	TOPMed
ITGB8	P26012	p.Glu367Val	rs769644188	missense variant	-	NC_000007.14:g.20394939A>T	ExAC,gnomAD
ITGB8	P26012	p.Ala371Glu	rs200150010	missense variant	-	NC_000007.14:g.20394951C>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ala371Val	rs200150010	missense variant	-	NC_000007.14:g.20394951C>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asn372Asp	rs976476371	missense variant	-	NC_000007.14:g.20394953A>G	TOPMed,gnomAD
ITGB8	P26012	p.Asn372His	rs976476371	missense variant	-	NC_000007.14:g.20394953A>C	TOPMed,gnomAD
ITGB8	P26012	p.Asn375His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20394962A>C	NCI-TCGA
ITGB8	P26012	p.Val377Ala	rs1344954134	missense variant	-	NC_000007.14:g.20394969T>C	gnomAD
ITGB8	P26012	p.Val377Ter	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20394967G>-	NCI-TCGA
ITGB8	P26012	p.Ala380Gly	rs766500550	missense variant	-	NC_000007.14:g.20394978C>G	ExAC,gnomAD
ITGB8	P26012	p.Lys383Asn	COSM6177420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20398862G>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Leu384Ile	rs760924326	missense variant	-	NC_000007.14:g.20398863C>A	ExAC,gnomAD
ITGB8	P26012	p.Ser386Ter	COSM4938974	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20398870C>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Glu387GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20398868_20398881TTCAGAAGTGAAAG>-	NCI-TCGA
ITGB8	P26012	p.Gln391His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20398886G>T	NCI-TCGA
ITGB8	P26012	p.Gln391Arg	rs753934657	missense variant	-	NC_000007.14:g.20398885A>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val392Leu	rs759634590	missense variant	-	NC_000007.14:g.20398887G>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val392Leu	rs759634590	missense variant	-	NC_000007.14:g.20398887G>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Glu393LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20398889G>-	NCI-TCGA
ITGB8	P26012	p.Glu393Lys	rs1272692791	missense variant	-	NC_000007.14:g.20398890G>A	gnomAD
ITGB8	P26012	p.Asn394Ser	rs765716271	missense variant	-	NC_000007.14:g.20398894A>G	ExAC,gnomAD
ITGB8	P26012	p.Gly398Ser	rs753195256	missense variant	-	NC_000007.14:g.20398905G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly398Asp	rs758789562	missense variant	-	NC_000007.14:g.20398906G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile399Phe	rs1196735902	missense variant	-	NC_000007.14:g.20398908A>T	gnomAD
ITGB8	P26012	p.Tyr400Asp	rs778043359	missense variant	-	NC_000007.14:g.20398911T>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ala405Thr	rs746100802	missense variant	-	NC_000007.14:g.20398926G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile406Thr	rs1458719684	missense variant	-	NC_000007.14:g.20398930T>C	TOPMed
ITGB8	P26012	p.Pro408Leu	rs745410397	missense variant	-	NC_000007.14:g.20398936C>T	ExAC,gnomAD
ITGB8	P26012	p.Pro408Thr	rs780891294	missense variant	-	NC_000007.14:g.20398935C>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp409Glu	rs755626676	missense variant	-	NC_000007.14:g.20398940T>G	ExAC,gnomAD
ITGB8	P26012	p.Arg412Thr	rs769911416	missense variant	-	NC_000007.14:g.20398948G>C	TOPMed
ITGB8	P26012	p.Arg412Ser	rs1385561887	missense variant	-	NC_000007.14:g.20398949A>C	gnomAD
ITGB8	P26012	p.Lys413Arg	rs1326061075	missense variant	-	NC_000007.14:g.20398951A>G	TOPMed,gnomAD
ITGB8	P26012	p.Gly415Ser	rs749171390	missense variant	-	NC_000007.14:g.20398956G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Met416Ile	rs1210272130	missense variant	-	NC_000007.14:g.20398961G>C	TOPMed
ITGB8	P26012	p.Asn421Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20398974A>G	NCI-TCGA
ITGB8	P26012	p.Val422Met	rs576191204	missense variant	-	NC_000007.14:g.20398977G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val422Leu	rs576191204	missense variant	-	NC_000007.14:g.20398977G>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Thr423Met	rs376271288	missense variant	-	NC_000007.14:g.20398981C>T	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser424Arg	rs780406698	missense variant	-	NC_000007.14:g.20398985C>A	TOPMed
ITGB8	P26012	p.Asn425Lys	rs776893836	missense variant	-	NC_000007.14:g.20398988T>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp426Gly	rs1354385043	missense variant	-	NC_000007.14:g.20398990A>G	gnomAD
ITGB8	P26012	p.Glu427Lys	COSM421503	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20398992G>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Leu429Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20401724C>A	NCI-TCGA
ITGB8	P26012	p.Leu429Pro	rs989529388	missense variant	-	NC_000007.14:g.20401725T>C	TOPMed,gnomAD
ITGB8	P26012	p.Asn431Ser	rs775602313	missense variant	-	NC_000007.14:g.20401731A>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val432Ile	rs569381784	missense variant	-	NC_000007.14:g.20401733G>A	1000Genomes,ExAC,gnomAD
ITGB8	P26012	p.Val432Leu	rs569381784	missense variant	-	NC_000007.14:g.20401733G>T	1000Genomes,ExAC,gnomAD
ITGB8	P26012	p.Met436Thr	rs750057544	missense variant	-	NC_000007.14:g.20401746T>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Met436Val	rs767857585	missense variant	-	NC_000007.14:g.20401745A>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Lys437Thr	COSM275597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401749A>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Cys439Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20401754T>G	NCI-TCGA
ITGB8	P26012	p.Cys439Tyr	rs1050869912	missense variant	-	NC_000007.14:g.20401755G>A	TOPMed
ITGB8	P26012	p.Asp440His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20401757G>C	NCI-TCGA
ITGB8	P26012	p.Asp440Tyr	rs1331152410	missense variant	-	NC_000007.14:g.20401757G>T	gnomAD
ITGB8	P26012	p.Val441Ala	rs539439520	missense variant	-	NC_000007.14:g.20401761T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly443Ter	rs1255257963	stop gained	-	NC_000007.14:g.20401766G>T	gnomAD
ITGB8	P26012	p.Gly444Arg	rs766126562	missense variant	-	NC_000007.14:g.20401769G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly444Arg	rs766126562	missense variant	-	NC_000007.14:g.20401769G>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Lys445Ile	rs753442811	missense variant	-	NC_000007.14:g.20401773A>T	ExAC,gnomAD
ITGB8	P26012	p.Lys445Asn	rs61757103	missense variant	-	NC_000007.14:g.20401774A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asn446LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20401770_20401771insA	NCI-TCGA
ITGB8	P26012	p.Asn446Ser	rs779020021	missense variant	-	NC_000007.14:g.20401776A>G	ExAC,gnomAD
ITGB8	P26012	p.Tyr447Cys	rs752638219	missense variant	-	NC_000007.14:g.20401779A>G	ExAC,gnomAD
ITGB8	P26012	p.Ile450Met	rs746764508	missense variant	-	NC_000007.14:g.20401789C>G	ExAC,gnomAD
ITGB8	P26012	p.Pro452Thr	rs1467756103	missense variant	-	NC_000007.14:g.20401793C>A	gnomAD
ITGB8	P26012	p.Ile453Val	rs141933396	missense variant	-	NC_000007.14:g.20401796A>G	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile453Met	rs1415654716	missense variant	-	NC_000007.14:g.20401798T>G	TOPMed
ITGB8	P26012	p.Ile453Thr	rs780215932	missense variant	-	NC_000007.14:g.20401797T>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ala459Thr	rs150701020	missense variant	-	NC_000007.14:g.20401814G>A	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Lys460Glu	rs774843881	missense variant	-	NC_000007.14:g.20401817A>G	ExAC
ITGB8	P26012	p.Ile461Met	COSM745559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401822T>G	NCI-TCGA Cosmic
ITGB8	P26012	p.Ile461Val	rs762323664	missense variant	-	NC_000007.14:g.20401820A>G	ExAC
ITGB8	P26012	p.His462Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20401824A>G	NCI-TCGA
ITGB8	P26012	p.His462Gln	rs772446588	missense variant	-	NC_000007.14:g.20401825T>G	ExAC,gnomAD
ITGB8	P26012	p.His464Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20401830A>C	NCI-TCGA
ITGB8	P26012	p.His464Arg	rs1391949224	missense variant	-	NC_000007.14:g.20401830A>G	gnomAD
ITGB8	P26012	p.Arg465Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20401833G>T	NCI-TCGA
ITGB8	P26012	p.Arg465Gly	rs1300301773	missense variant	-	NC_000007.14:g.20401832A>G	gnomAD
ITGB8	P26012	p.Cys467Gly	rs760919892	missense variant	-	NC_000007.14:g.20401838T>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Cys467Arg	rs760919892	missense variant	-	NC_000007.14:g.20401838T>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser468Ile	rs753496259	missense variant	-	NC_000007.14:g.20401842G>T	ExAC,gnomAD
ITGB8	P26012	p.Gln470Arg	rs759152706	missense variant	-	NC_000007.14:g.20401848A>G	ExAC,gnomAD
ITGB8	P26012	p.Glu472Lys	rs764769444	missense variant	-	NC_000007.14:g.20401853G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asn474Lys	rs758416175	missense variant	-	NC_000007.14:g.20401861C>A	ExAC,gnomAD
ITGB8	P26012	p.Asn474Tyr	rs752585612	missense variant	-	NC_000007.14:g.20401859A>T	ExAC,gnomAD
ITGB8	P26012	p.Arg475Ser	COSM452828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401864A>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Gly476Val	rs777564682	missense variant	-	NC_000007.14:g.20401866G>T	ExAC,gnomAD
ITGB8	P26012	p.Pro477Arg	rs756978531	missense variant	-	NC_000007.14:g.20401869C>G	ExAC,gnomAD
ITGB8	P26012	p.Gly479Glu	COSM3637172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401875G>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Cys481Tyr	rs80015015	missense variant	-	NC_000007.14:g.20401881G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Cys481Arg	rs780276717	missense variant	-	NC_000007.14:g.20401880T>C	ExAC,gnomAD
ITGB8	P26012	p.Val482Ile	rs768738057	missense variant	-	NC_000007.14:g.20401883G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val482Ala	rs1271278237	missense variant	-	NC_000007.14:g.20401884T>C	TOPMed
ITGB8	P26012	p.Asp483Asn	rs1247664849	missense variant	-	NC_000007.14:g.20401886G>A	TOPMed
ITGB8	P26012	p.Asp483Glu	rs61753451	missense variant	-	NC_000007.14:g.20401888T>A	ExAC,gnomAD
ITGB8	P26012	p.Asp483Gly	rs779022693	missense variant	-	NC_000007.14:g.20401887A>G	ExAC,gnomAD
ITGB8	P26012	p.Asp483Glu	rs61753451	missense variant	-	NC_000007.14:g.20401888T>G	ExAC,gnomAD
ITGB8	P26012	p.Glu484Ala	rs772676164	missense variant	-	NC_000007.14:g.20401890A>C	ExAC,gnomAD
ITGB8	P26012	p.Glu484Gly	rs772676164	missense variant	-	NC_000007.14:g.20401890A>G	ExAC,gnomAD
ITGB8	P26012	p.Asp488Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20401901G>T	NCI-TCGA
ITGB8	P26012	p.Asp488Ala	rs759203110	missense variant	-	NC_000007.14:g.20401902A>C	ExAC,gnomAD
ITGB8	P26012	p.Ser489Cys	rs1303886938	missense variant	-	NC_000007.14:g.20401905C>G	gnomAD
ITGB8	P26012	p.Lys490Arg	rs764967496	missense variant	-	NC_000007.14:g.20401908A>G	ExAC,gnomAD
ITGB8	P26012	p.Cys491Tyr	rs762336929	missense variant	-	NC_000007.14:g.20401911G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Cys491Ter	rs1047620506	stop gained	-	NC_000007.14:g.20401912T>A	TOPMed
ITGB8	P26012	p.Cys491Arg	rs139948779	missense variant	-	NC_000007.14:g.20401910T>C	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gln493His	rs143026332	missense variant	-	NC_000007.14:g.20401918G>C	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Cys494Arg	rs1391694668	missense variant	-	NC_000007.14:g.20401919T>C	TOPMed
ITGB8	P26012	p.Asp495Asn	rs147445812	missense variant	-	NC_000007.14:g.20401922G>A	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp495Glu	rs1364012694	missense variant	-	NC_000007.14:g.20401924T>A	TOPMed,gnomAD
ITGB8	P26012	p.Lys498ValPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20401928_20401931AATA>-	NCI-TCGA
ITGB8	P26012	p.Phe501Ser	rs555257706	missense variant	-	NC_000007.14:g.20401941T>C	1000Genomes,ExAC,gnomAD
ITGB8	P26012	p.Asp502Gly	rs181108650	missense variant	-	NC_000007.14:g.20401944A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp502Val	rs181108650	missense variant	-	NC_000007.14:g.20401944A>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp504Tyr	rs1441301436	missense variant	-	NC_000007.14:g.20401949G>T	TOPMed
ITGB8	P26012	p.Gln505His	rs750206788	missense variant	-	NC_000007.14:g.20401954G>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Glu509Gly	rs377569049	missense variant	-	NC_000007.14:g.20401965A>G	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Glu509Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20401966G>C	NCI-TCGA
ITGB8	P26012	p.Glu509Ala	rs377569049	missense variant	-	NC_000007.14:g.20401965A>C	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser513Leu	COSM1088283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401977C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.His514Tyr	rs1468172065	missense variant	-	NC_000007.14:g.20401979C>T	TOPMed
ITGB8	P26012	p.Gln517Glu	rs1347981355	missense variant	-	NC_000007.14:g.20401988C>G	gnomAD
ITGB8	P26012	p.Pro518Leu	rs370168222	missense variant	-	NC_000007.14:g.20401992C>T	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val519Ile	rs777189717	missense variant	-	NC_000007.14:g.20401994G>A	ExAC,gnomAD
ITGB8	P26012	p.Arg523Ter	rs746227584	stop gained	-	NC_000007.14:g.20402006C>T	ExAC,gnomAD
ITGB8	P26012	p.Arg523Gln	rs1271534799	missense variant	-	NC_000007.14:g.20402007G>A	TOPMed,gnomAD
ITGB8	P26012	p.Val527Asp	rs1227178829	missense variant	-	NC_000007.14:g.20402019T>A	gnomAD
ITGB8	P26012	p.Cys531Arg	rs1310036399	missense variant	-	NC_000007.14:g.20402030T>C	gnomAD
ITGB8	P26012	p.Cys531Phe	rs1324011286	missense variant	-	NC_000007.14:g.20402031G>T	gnomAD
ITGB8	P26012	p.Cys531Tyr	rs1324011286	missense variant	-	NC_000007.14:g.20402031G>A	gnomAD
ITGB8	P26012	p.Ser532Leu	rs762546199	missense variant	-	NC_000007.14:g.20402034C>T	ExAC,gnomAD
ITGB8	P26012	p.His534Gln	rs139989805	missense variant	-	NC_000007.14:g.20402041C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Gly539Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20402055G>T	NCI-TCGA
ITGB8	P26012	p.Lys540Glu	rs112570626	missense variant	-	NC_000007.14:g.20402057A>G	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val541Leu	rs761796504	missense variant	-	NC_000007.14:g.20402060G>C	ExAC,gnomAD
ITGB8	P26012	p.Tyr542Cys	rs1472594910	missense variant	-	NC_000007.14:g.20402064A>G	gnomAD
ITGB8	P26012	p.Glu547Gly	rs750260021	missense variant	-	NC_000007.14:g.20402079A>G	ExAC,gnomAD
ITGB8	P26012	p.Lys548Asn	rs755883816	missense variant	-	NC_000007.14:g.20402083G>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp549Tyr	COSM745553	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20402084G>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Asp549Asn	rs1384239930	missense variant	-	NC_000007.14:g.20402084G>A	TOPMed
ITGB8	P26012	p.Asp550Glu	rs765521026	missense variant	-	NC_000007.14:g.20402089C>G	ExAC,gnomAD
ITGB8	P26012	p.Asp550His	rs1165619634	missense variant	-	NC_000007.14:g.20402087G>C	gnomAD
ITGB8	P26012	p.Phe551Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20402092T>A	NCI-TCGA
ITGB8	P26012	p.Phe551Leu	COSM3880031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20402090T>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Phe551Ile	rs1455402921	missense variant	-	NC_000007.14:g.20402090T>A	gnomAD
ITGB8	P26012	p.Cys553Arg	rs1287061611	missense variant	-	NC_000007.14:g.20402096T>C	TOPMed
ITGB8	P26012	p.Cys553Tyr	rs1320047190	missense variant	-	NC_000007.14:g.20402097G>A	gnomAD
ITGB8	P26012	p.Pro554Leu	COSM6177416	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20402100C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Tyr555Cys	rs752824831	missense variant	-	NC_000007.14:g.20402103A>G	ExAC,gnomAD
ITGB8	P26012	p.His556Tyr	rs562438916	missense variant	-	NC_000007.14:g.20402105C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.His556Arg	rs533084179	missense variant	-	NC_000007.14:g.20402106A>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.His557Gln	rs747069550	missense variant	-	NC_000007.14:g.20402110T>A	ExAC,gnomAD
ITGB8	P26012	p.Asn559Ser	rs1376099758	missense variant	-	NC_000007.14:g.20402115A>G	TOPMed
ITGB8	P26012	p.Leu560Pro	rs757903380	missense variant	-	NC_000007.14:g.20402118T>C	ExAC,gnomAD
ITGB8	P26012	p.Cys561Phe	COSM6177414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20402121G>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Cys561Tyr	rs1288216607	missense variant	-	NC_000007.14:g.20402121G>A	gnomAD
ITGB8	P26012	p.Ala562Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20402124C>T	NCI-TCGA
ITGB8	P26012	p.Ala562Gly	rs1327720010	missense variant	-	NC_000007.14:g.20402124C>G	gnomAD
ITGB8	P26012	p.Gly563Arg	rs781754147	missense variant	-	NC_000007.14:g.20402126G>A	ExAC
ITGB8	P26012	p.Glu566Ala	rs1424318190	missense variant	-	NC_000007.14:g.20404637A>C	gnomAD
ITGB8	P26012	p.Glu566Gln	rs1435981892	missense variant	-	NC_000007.14:g.20404636G>C	TOPMed,gnomAD
ITGB8	P26012	p.Ala569Val	rs1202375398	missense variant	-	NC_000007.14:g.20404646C>T	TOPMed
ITGB8	P26012	p.Gly570Ala	rs1189262023	missense variant	-	NC_000007.14:g.20404649G>C	gnomAD
ITGB8	P26012	p.Cys574Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20404660T>A	NCI-TCGA
ITGB8	P26012	p.Phe575Leu	rs370722333	missense variant	-	NC_000007.14:g.20404663T>C	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Phe575Ile	rs370722333	missense variant	-	NC_000007.14:g.20404663T>A	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Phe575Val	rs370722333	missense variant	-	NC_000007.14:g.20404663T>G	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser576Arg	rs1271600643	missense variant	-	NC_000007.14:g.20404668T>G	TOPMed
ITGB8	P26012	p.Gly577Val	rs752784233	missense variant	-	NC_000007.14:g.20404670G>T	TOPMed,gnomAD
ITGB8	P26012	p.Gly577Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20404670G>C	NCI-TCGA
ITGB8	P26012	p.Gly577Asp	rs752784233	missense variant	-	NC_000007.14:g.20404670G>A	TOPMed,gnomAD
ITGB8	P26012	p.Gly577Ser	rs771533036	missense variant	-	NC_000007.14:g.20404669G>A	ExAC,gnomAD
ITGB8	P26012	p.Trp578Arg	rs773141498	missense variant	-	NC_000007.14:g.20404672T>C	ExAC,gnomAD
ITGB8	P26012	p.Trp578Gly	rs773141498	missense variant	-	NC_000007.14:g.20404672T>G	ExAC,gnomAD
ITGB8	P26012	p.Glu579Gly	rs79486768	missense variant	-	NC_000007.14:g.20404676A>G	ExAC,gnomAD
ITGB8	P26012	p.Glu579Asp	rs4134436	missense variant	-	NC_000007.14:g.20404677A>T	ExAC,gnomAD
ITGB8	P26012	p.Glu579Lys	rs1434695904	missense variant	-	NC_000007.14:g.20404675G>A	TOPMed,gnomAD
ITGB8	P26012	p.Gly580Val	rs1334085134	missense variant	-	NC_000007.14:g.20404679G>T	TOPMed
ITGB8	P26012	p.Asp581Gly	rs764269573	missense variant	-	NC_000007.14:g.20404682A>G	ExAC,gnomAD
ITGB8	P26012	p.Asp581Val	rs764269573	missense variant	-	NC_000007.14:g.20404682A>T	ExAC,gnomAD
ITGB8	P26012	p.Arg582Gly	rs746886746	missense variant	-	NC_000007.14:g.20404684C>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg582Ter	rs746886746	stop gained	-	NC_000007.14:g.20404684C>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg582Gln	rs574358525	missense variant	-	NC_000007.14:g.20404685G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Cys583Arg	rs1169590417	missense variant	-	NC_000007.14:g.20404687T>C	TOPMed
ITGB8	P26012	p.Cys585Tyr	COSM4877825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20404694G>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Pro586Leu	rs750980773	missense variant	-	NC_000007.14:g.20404697C>T	ExAC,gnomAD
ITGB8	P26012	p.Ser587Leu	COSM3832467	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20404700C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Ala590Ser	rs1034650512	missense variant	-	NC_000007.14:g.20404708G>T	gnomAD
ITGB8	P26012	p.Gln591Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.20404711C>T	NCI-TCGA
ITGB8	P26012	p.His592Tyr	rs148463159	missense variant	-	NC_000007.14:g.20404714C>T	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.His592Asp	rs148463159	missense variant	-	NC_000007.14:g.20404714C>G	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Val594Asp	rs1187584553	missense variant	-	NC_000007.14:g.20404721T>A	gnomAD
ITGB8	P26012	p.Val594Phe	rs780580519	missense variant	-	NC_000007.14:g.20404720G>T	ExAC,gnomAD
ITGB8	P26012	p.Lys597Asn	rs1188525624	missense variant	-	NC_000007.14:g.20404731G>C	TOPMed
ITGB8	P26012	p.Gly598Ala	rs1241673978	missense variant	-	NC_000007.14:g.20404733G>C	TOPMed,gnomAD
ITGB8	P26012	p.Arg604Ser	rs149674783	missense variant	-	NC_000007.14:g.20404752A>T	1000Genomes,ExAC,gnomAD
ITGB8	P26012	p.Arg604Lys	rs754205396	missense variant	-	NC_000007.14:g.20404751G>A	ExAC,gnomAD
ITGB8	P26012	p.Thr606Met	rs778570764	missense variant	-	NC_000007.14:g.20404757C>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Cys607Tyr	rs771587942	missense variant	-	NC_000007.14:g.20404760G>A	ExAC,gnomAD
ITGB8	P26012	p.Cys612Gly	rs1264319129	missense variant	-	NC_000007.14:g.20404774T>G	TOPMed
ITGB8	P26012	p.Glu613Asp	rs61733918	missense variant	-	NC_000007.14:g.20404779G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Glu613Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20404778A>C	NCI-TCGA
ITGB8	P26012	p.Glu613Gly	rs1204357619	missense variant	-	NC_000007.14:g.20404778A>G	TOPMed
ITGB8	P26012	p.Cys614Gly	rs746520393	missense variant	-	NC_000007.14:g.20404780T>G	ExAC,gnomAD
ITGB8	P26012	p.Thr615Ile	rs1295612605	missense variant	-	NC_000007.14:g.20404784C>T	gnomAD
ITGB8	P26012	p.Asp616Asn	rs1228157455	missense variant	-	NC_000007.14:g.20404786G>A	TOPMed,gnomAD
ITGB8	P26012	p.Pro617Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20404789C>T	NCI-TCGA
ITGB8	P26012	p.Pro617Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20404790C>T	NCI-TCGA
ITGB8	P26012	p.Ser619Arg	rs978802596	missense variant	-	NC_000007.14:g.20404797C>G	gnomAD
ITGB8	P26012	p.Ser619Asn	rs1355542860	missense variant	-	NC_000007.14:g.20404796G>A	gnomAD
ITGB8	P26012	p.Ser619Asn	rs1355542860	missense variant	-	NC_000007.14:g.20404796G>A	NCI-TCGA
ITGB8	P26012	p.Gly621Ser	rs769670341	missense variant	-	NC_000007.14:g.20404801G>A	ExAC,gnomAD
ITGB8	P26012	p.Arg622Cys	rs151014289	missense variant	-	NC_000007.14:g.20404804C>T	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg622Gly	rs151014289	missense variant	-	NC_000007.14:g.20404804C>G	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg622His	rs767838901	missense variant	-	NC_000007.14:g.20404805G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Phe623Leu	COSM1088286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20404809C>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Phe623Ser	rs773465699	missense variant	-	NC_000007.14:g.20404808T>C	ExAC,gnomAD
ITGB8	P26012	p.Phe623Tyr	rs773465699	missense variant	-	NC_000007.14:g.20404808T>A	ExAC,gnomAD
ITGB8	P26012	p.His626Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20404816C>T	NCI-TCGA
ITGB8	P26012	p.His626Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20404816C>A	NCI-TCGA
ITGB8	P26012	p.Pro628Ser	rs766815527	missense variant	-	NC_000007.14:g.20404822C>T	ExAC,gnomAD
ITGB8	P26012	p.Cys630Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20404829G>T	NCI-TCGA
ITGB8	P26012	p.Ala633Asp	rs140857851	missense variant	-	NC_000007.14:g.20404838C>A	ESP,ExAC,gnomAD
ITGB8	P26012	p.Cys634Arg	rs765524617	missense variant	-	NC_000007.14:g.20404840T>C	ExAC,gnomAD
ITGB8	P26012	p.Cys634Ser	rs1456992248	missense variant	-	NC_000007.14:g.20404841G>C	gnomAD
ITGB8	P26012	p.Cys634Tyr	rs1456992248	missense variant	-	NC_000007.14:g.20404841G>A	gnomAD
ITGB8	P26012	p.Lys635Gln	rs1318963976	missense variant	-	NC_000007.14:g.20404843A>C	gnomAD
ITGB8	P26012	p.Trp638Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.20404853G>A	NCI-TCGA
ITGB8	P26012	p.Asn639Tyr	rs1318458705	missense variant	-	NC_000007.14:g.20406063A>T	gnomAD
ITGB8	P26012	p.Met641Ile	rs919421283	missense variant	-	NC_000007.14:g.20406071G>A	TOPMed
ITGB8	P26012	p.Met641Thr	rs1254991736	missense variant	-	NC_000007.14:g.20406070T>C	gnomAD
ITGB8	P26012	p.Cys643Arg	rs1212395452	missense variant	-	NC_000007.14:g.20406075T>C	gnomAD
ITGB8	P26012	p.Leu644Phe	rs983889935	missense variant	-	NC_000007.14:g.20406078C>T	TOPMed
ITGB8	P26012	p.His645Gln	rs375280352	missense variant	-	NC_000007.14:g.20406083C>G	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.His645Gln	rs375280352	missense variant	-	NC_000007.14:g.20406083C>A	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Pro646Ser	rs570372889	missense variant	-	NC_000007.14:g.20406084C>T	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asn648His	rs1176027916	missense variant	-	NC_000007.14:g.20406090A>C	gnomAD
ITGB8	P26012	p.Asn648Ser	rs909589269	missense variant	-	NC_000007.14:g.20406091A>G	TOPMed
ITGB8	P26012	p.Gln651Arg	rs756725981	missense variant	-	NC_000007.14:g.20406100A>G	ExAC,gnomAD
ITGB8	P26012	p.Ala652Val	rs1335338443	missense variant	-	NC_000007.14:g.20406103C>T	gnomAD
ITGB8	P26012	p.Ile653Thr	rs780696993	missense variant	-	NC_000007.14:g.20406106T>C	ExAC,gnomAD
ITGB8	P26012	p.Cys657Tyr	rs745357449	missense variant	-	NC_000007.14:g.20406118G>A	ExAC,gnomAD
ITGB8	P26012	p.Thr659Ile	rs368140852	missense variant	-	NC_000007.14:g.20406124C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Thr659Asn	rs368140852	missense variant	-	NC_000007.14:g.20406124C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ala662Thr	rs768529387	missense variant	-	NC_000007.14:g.20406132G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Leu663Phe	rs773308729	missense variant	-	NC_000007.14:g.20406135C>T	ExAC,gnomAD
ITGB8	P26012	p.Met664Thr	rs771042701	missense variant	-	NC_000007.14:g.20406139T>C	ExAC,gnomAD
ITGB8	P26012	p.Glu665Asp	rs776835305	missense variant	-	NC_000007.14:g.20406143A>T	ExAC,gnomAD
ITGB8	P26012	p.Gln666His	rs759576648	missense variant	-	NC_000007.14:g.20406146A>C	ExAC,gnomAD
ITGB8	P26012	p.Gln667His	rs1303463754	missense variant	-	NC_000007.14:g.20406149G>T	gnomAD
ITGB8	P26012	p.Gln667Lys	rs770339148	missense variant	-	NC_000007.14:g.20406147C>A	ExAC,gnomAD
ITGB8	P26012	p.Gln667His	rs1303463754	missense variant	-	NC_000007.14:g.20406149G>C	gnomAD
ITGB8	P26012	p.Asp671Asn	rs751381514	missense variant	-	NC_000007.14:g.20406159G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asp671Asn	rs751381514	missense variant	-	NC_000007.14:g.20406159G>A	NCI-TCGA,NCI-TCGA Cosmic
ITGB8	P26012	p.Ser678Thr	rs201628724	missense variant	-	NC_000007.14:g.20409623T>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser678Pro	rs201628724	missense variant	-	NC_000007.14:g.20409623T>C	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser679Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20409627G>C	NCI-TCGA
ITGB8	P26012	p.Ser679Arg	rs769828082	missense variant	-	NC_000007.14:g.20409628C>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Pro680Ser	rs1341292792	missense variant	-	NC_000007.14:g.20409629C>T	TOPMed
ITGB8	P26012	p.Tyr682Asn	rs775982847	missense variant	-	NC_000007.14:g.20409635T>A	ExAC,gnomAD
ITGB8	P26012	p.Phe686Tyr	rs763395646	missense variant	-	NC_000007.14:g.20409648T>A	ExAC,gnomAD
ITGB8	P26012	p.Phe686Ser	rs763395646	missense variant	-	NC_000007.14:g.20409648T>C	ExAC,gnomAD
ITGB8	P26012	p.Ile689Val	rs1462768505	missense variant	-	NC_000007.14:g.20409656A>G	NCI-TCGA
ITGB8	P26012	p.Ile689Val	rs1462768505	missense variant	-	NC_000007.14:g.20409656A>G	gnomAD
ITGB8	P26012	p.Phe690Leu	rs774846366	missense variant	-	NC_000007.14:g.20409661C>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ile691Val	rs1344235349	missense variant	-	NC_000007.14:g.20409662A>G	gnomAD
ITGB8	P26012	p.Ile691Thr	rs762052934	missense variant	-	NC_000007.14:g.20409663T>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Phe694Leu	rs372866371	missense variant	-	NC_000007.14:g.20409671T>C	ESP,TOPMed,gnomAD
ITGB8	P26012	p.Phe694Ile	rs372866371	missense variant	-	NC_000007.14:g.20409671T>A	ESP,TOPMed,gnomAD
ITGB8	P26012	p.Leu695Phe	rs1361984949	missense variant	-	NC_000007.14:g.20409676G>T	gnomAD
ITGB8	P26012	p.Leu698Trp	rs750056004	missense variant	-	NC_000007.14:g.20409684T>G	ExAC,gnomAD
ITGB8	P26012	p.Lys700Glu	rs1258526124	missense variant	-	NC_000007.14:g.20409689A>G	gnomAD
ITGB8	P26012	p.Leu702Pro	COSM3880033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409696T>C	NCI-TCGA Cosmic
ITGB8	P26012	p.Ile703Met	COSM6177410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409700C>G	NCI-TCGA Cosmic
ITGB8	P26012	p.Ile704Val	rs1398540631	missense variant	-	NC_000007.14:g.20409701A>G	TOPMed
ITGB8	P26012	p.Gln706Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20409708A>T	NCI-TCGA
ITGB8	P26012	p.Asn712Lys	rs143176145	missense variant	-	NC_000007.14:g.20409727T>G	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser713Cys	COSM6109811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409728A>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Ser713Ile	rs765157346	missense variant	-	NC_000007.14:g.20409729G>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Asn714Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20409733T>A	NCI-TCGA
ITGB8	P26012	p.Asn714Asp	COSM3637176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409731A>G	NCI-TCGA Cosmic
ITGB8	P26012	p.Asn714Ser	rs752582075	missense variant	-	NC_000007.14:g.20409732A>G	ExAC,gnomAD
ITGB8	P26012	p.Ile716Met	rs146509338	missense variant	-	NC_000007.14:g.20409739T>G	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser720Leu	rs1467536342	missense variant	-	NC_000007.14:g.20409750C>T	gnomAD
ITGB8	P26012	p.Asp721Ala	rs746026000	missense variant	-	NC_000007.14:g.20409753A>C	ExAC,gnomAD
ITGB8	P26012	p.Arg723Ser	rs186406594	missense variant	-	NC_000007.14:g.20409760A>T	1000Genomes,ExAC,gnomAD
ITGB8	P26012	p.Arg723Ser	rs186406594	missense variant	-	NC_000007.14:g.20409760A>C	1000Genomes,ExAC,gnomAD
ITGB8	P26012	p.Arg723Lys	rs975918181	missense variant	-	NC_000007.14:g.20409759G>A	TOPMed
ITGB8	P26012	p.Val724Met	rs868022064	missense variant	-	NC_000007.14:g.20409761G>A	TOPMed
ITGB8	P26012	p.Val724Leu	rs868022064	missense variant	-	NC_000007.14:g.20409761G>C	TOPMed
ITGB8	P26012	p.Ala726Pro	rs769245814	missense variant	-	NC_000007.14:g.20409767G>C	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ala726Thr	rs769245814	missense variant	-	NC_000007.14:g.20409767G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Ser727Leu	COSM3637178	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409771C>T	NCI-TCGA Cosmic
ITGB8	P26012	p.Ser727Ala	rs748576516	missense variant	-	NC_000007.14:g.20409770T>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Lys728Glu	rs772257032	missense variant	-	NC_000007.14:g.20409773A>G	ExAC,gnomAD
ITGB8	P26012	p.Lys728Gln	rs772257032	missense variant	-	NC_000007.14:g.20409773A>C	ExAC,gnomAD
ITGB8	P26012	p.Lys729Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20409777A>G	NCI-TCGA
ITGB8	P26012	p.Lys729ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20409772A>-	NCI-TCGA
ITGB8	P26012	p.Asp730Gly	rs1376787625	missense variant	-	NC_000007.14:g.20409876A>G	gnomAD
ITGB8	P26012	p.Asp730Asn	rs953061426	missense variant	-	NC_000007.14:g.20409875G>A	TOPMed,gnomAD
ITGB8	P26012	p.Lys731Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20409880G>C	NCI-TCGA
ITGB8	P26012	p.Lys731Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20409878A>G	NCI-TCGA
ITGB8	P26012	p.Lys731Arg	COSM3880035	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409879A>G	NCI-TCGA Cosmic
ITGB8	P26012	p.Gln735Arg	rs1353283197	missense variant	-	NC_000007.14:g.20409891A>G	gnomAD
ITGB8	P26012	p.Ser736Thr	rs1444735755	missense variant	-	NC_000007.14:g.20409894G>C	gnomAD
ITGB8	P26012	p.Cys738Tyr	rs1280575240	missense variant	-	NC_000007.14:g.20409900G>A	gnomAD
ITGB8	P26012	p.Thr739Arg	rs1232433613	missense variant	-	NC_000007.14:g.20409903C>G	gnomAD
ITGB8	P26012	p.Thr739Pro	rs754971087	missense variant	-	NC_000007.14:g.20409902A>C	ExAC,gnomAD
ITGB8	P26012	p.Thr739Ala	rs754971087	missense variant	-	NC_000007.14:g.20409902A>G	ExAC,gnomAD
ITGB8	P26012	p.Val742Ile	COSM3880037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409911G>A	NCI-TCGA Cosmic
ITGB8	P26012	p.Thr743Ser	rs1348639275	missense variant	-	NC_000007.14:g.20409915C>G	gnomAD
ITGB8	P26012	p.Arg745Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20409921G>T	NCI-TCGA
ITGB8	P26012	p.Arg745Ter	rs772616945	stop gained	-	NC_000007.14:g.20409920C>T	ExAC,gnomAD
ITGB8	P26012	p.Arg745Gln	rs545242791	missense variant	-	NC_000007.14:g.20409921G>A	1000Genomes,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg746Ser	rs747343754	missense variant	-	NC_000007.14:g.20409923C>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg746His	rs770751693	missense variant	-	NC_000007.14:g.20409924G>A	NCI-TCGA
ITGB8	P26012	p.Arg746Cys	rs747343754	missense variant	-	NC_000007.14:g.20409923C>T	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Arg746His	rs770751693	missense variant	-	NC_000007.14:g.20409924G>A	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Glu747Gln	rs1453388773	missense variant	-	NC_000007.14:g.20409926G>C	TOPMed,gnomAD
ITGB8	P26012	p.Glu747Lys	rs1453388773	missense variant	-	NC_000007.14:g.20409926G>A	TOPMed,gnomAD
ITGB8	P26012	p.Lys748Arg	rs1057352360	missense variant	-	NC_000007.14:g.20409930A>G	TOPMed,gnomAD
ITGB8	P26012	p.Pro749Ser	rs759121054	missense variant	-	NC_000007.14:g.20409932C>T	ExAC,gnomAD
ITGB8	P26012	p.Ile752Val	rs1166815034	missense variant	-	NC_000007.14:g.20409941A>G	gnomAD
ITGB8	P26012	p.Met754Val	rs1394965178	missense variant	-	NC_000007.14:g.20409947A>G	TOPMed,gnomAD
ITGB8	P26012	p.Asp755Gly	rs536721260	missense variant	-	NC_000007.14:g.20409951A>G	TOPMed
ITGB8	P26012	p.Ile756Thr	rs764588528	missense variant	-	NC_000007.14:g.20409954T>C	ExAC,gnomAD
ITGB8	P26012	p.His762Gln	rs751396072	missense variant	-	NC_000007.14:g.20409973T>G	ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Glu763Lys	rs757024284	missense variant	-	NC_000007.14:g.20409974G>A	ExAC,gnomAD
ITGB8	P26012	p.Phe765Val	rs894537446	missense variant	-	NC_000007.14:g.20409980T>G	TOPMed
ITGB8	P26012	p.Arg766Thr	rs372099167	missense variant	-	NC_000007.14:g.20409984G>C	ESP,ExAC,TOPMed,gnomAD
ITGB8	P26012	p.Cys767Tyr	rs1337341454	missense variant	-	NC_000007.14:g.20409987G>A	NCI-TCGA
ITGB8	P26012	p.Cys767Tyr	rs1337341454	missense variant	-	NC_000007.14:g.20409987G>A	gnomAD
ITGB8	P26012	p.Phe769Ser	rs1216294908	missense variant	-	NC_000007.14:g.20409993T>C	gnomAD
ACVR2A	P27037	p.Ala3Val	rs769549574	missense variant	-	NC_000002.12:g.147845160C>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala3SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147845154_147845155insG	NCI-TCGA
ACVR2A	P27037	p.Ala4Pro	rs533676933	missense variant	-	NC_000002.12:g.147845162G>C	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Lys6Glu	rs774979181	missense variant	-	NC_000002.12:g.147845168A>G	ExAC,gnomAD
ACVR2A	P27037	p.Leu7Ter	COSM4085313	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147845172T>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ala8Ser	rs760028250	missense variant	-	NC_000002.12:g.147845174G>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala8GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147845175C>-	NCI-TCGA
ACVR2A	P27037	p.Phe9Leu	COSM1007180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147845177T>C	NCI-TCGA Cosmic
ACVR2A	P27037	p.Phe9Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147845177T>G	NCI-TCGA
ACVR2A	P27037	p.Phe9Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147845179T>G	NCI-TCGA
ACVR2A	P27037	p.Ala10Thr	rs1391719655	missense variant	-	NC_000002.12:g.147845180G>A	TOPMed
ACVR2A	P27037	p.Val11Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147845184T>A	NCI-TCGA
ACVR2A	P27037	p.Val11Ile	rs752749821	missense variant	-	NC_000002.12:g.147845183G>A	ExAC,gnomAD
ACVR2A	P27037	p.Phe12Val	rs1389950555	missense variant	-	NC_000002.12:g.147845186T>G	TOPMed
ACVR2A	P27037	p.Leu13Val	COSM3783338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147845189C>G	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ile14Thr	rs1186296882	missense variant	-	NC_000002.12:g.147845193T>C	gnomAD
ACVR2A	P27037	p.Ser17Tyr	rs375035474	missense variant	-	NC_000002.12:g.147845202C>A	ESP,ExAC,gnomAD
ACVR2A	P27037	p.Ser17Cys	rs375035474	missense variant	-	NC_000002.12:g.147845202C>G	ESP,ExAC,gnomAD
ACVR2A	P27037	p.Ala20Val	COSM3971602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896304C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ala20Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147896303G>T	NCI-TCGA
ACVR2A	P27037	p.Ile21Met	rs755742197	missense variant	-	NC_000002.12:g.147896308A>G	ExAC,gnomAD
ACVR2A	P27037	p.Ile21Thr	rs752622036	missense variant	-	NC_000002.12:g.147896307T>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Leu22Ile	rs777144025	missense variant	-	NC_000002.12:g.147896309C>A	ExAC,gnomAD
ACVR2A	P27037	p.Leu22Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147896309C>G	NCI-TCGA
ACVR2A	P27037	p.Gly23Asp	rs1036539489	missense variant	-	NC_000002.12:g.147896313G>A	TOPMed
ACVR2A	P27037	p.Ser25Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147896319C>T	NCI-TCGA
ACVR2A	P27037	p.Thr27Ile	rs749005993	missense variant	-	NC_000002.12:g.147896325C>T	ExAC,gnomAD
ACVR2A	P27037	p.Gln28Ter	COSM716486	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147896327C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Glu29Gln	rs1453883828	missense variant	-	NC_000002.12:g.147896330G>C	gnomAD
ACVR2A	P27037	p.Leu31Phe	rs1246268853	missense variant	-	NC_000002.12:g.147896336C>T	gnomAD
ACVR2A	P27037	p.Leu31Val	rs1246268853	missense variant	-	NC_000002.12:g.147896336C>G	gnomAD
ACVR2A	P27037	p.Leu31Arg	rs778576056	missense variant	-	NC_000002.12:g.147896337T>G	ExAC,gnomAD
ACVR2A	P27037	p.Phe32Val	COSM1305683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896339T>G	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ala35Thr	rs746261161	missense variant	-	NC_000002.12:g.147896348G>A	ExAC,gnomAD
ACVR2A	P27037	p.Asp40Glu	rs930920460	missense variant	-	NC_000002.12:g.147896365C>A	TOPMed
ACVR2A	P27037	p.Thr42Ile	rs1413549279	missense variant	-	NC_000002.12:g.147896370C>T	TOPMed
ACVR2A	P27037	p.Gln44Ter	COSM5098432	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147896375C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Thr45Ser	rs775992985	missense variant	-	NC_000002.12:g.147896379C>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Glu48Asp	rs768851334	missense variant	-	NC_000002.12:g.147896389A>T	ExAC,gnomAD
ACVR2A	P27037	p.Pro49Leu	rs776542712	missense variant	-	NC_000002.12:g.147896391C>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Asp53Glu	rs1436669424	missense variant	-	NC_000002.12:g.147896404C>A	gnomAD
ACVR2A	P27037	p.Lys56SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147896411_147896412insGC	NCI-TCGA
ACVR2A	P27037	p.Arg57Trp	COSM1399821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896414C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Arg57LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000002.12:g.147896412_147896413insACTTTAGGTATTCCTAAAGTGTCAGTAATTC	NCI-TCGA
ACVR2A	P27037	p.Arg57Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147896415G>A	NCI-TCGA
ACVR2A	P27037	p.Arg58Pro	COSM4942035	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896418G>C	NCI-TCGA Cosmic
ACVR2A	P27037	p.Arg58GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147896415G>-	NCI-TCGA
ACVR2A	P27037	p.Ala62Val	rs1228095992	missense variant	-	NC_000002.12:g.147896430C>T	gnomAD
ACVR2A	P27037	p.Lys65Asn	COSM4839117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896440G>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ile71Val	rs1426593767	missense variant	-	NC_000002.12:g.147896456A>G	gnomAD
ACVR2A	P27037	p.Ile71Thr	rs759415672	missense variant	-	NC_000002.12:g.147896457T>C	ExAC,gnomAD
ACVR2A	P27037	p.Ile73Val	rs1478720723	missense variant	-	NC_000002.12:g.147896462A>G	gnomAD
ACVR2A	P27037	p.Val74Gly	COSM3567400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896466T>G	NCI-TCGA Cosmic
ACVR2A	P27037	p.Val74Leu	rs1451305276	missense variant	-	NC_000002.12:g.147896465G>C	TOPMed
ACVR2A	P27037	p.Gly77Asp	COSM3425264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147896475G>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Trp79Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147896482G>T	NCI-TCGA
ACVR2A	P27037	p.Ile83Val	rs1248849635	missense variant	-	NC_000002.12:g.147896492A>G	gnomAD
ACVR2A	P27037	p.Cys85Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147896498T>G	NCI-TCGA
ACVR2A	P27037	p.Cys85Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.147896500C>A	NCI-TCGA
ACVR2A	P27037	p.Arg88Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147899458G>C	NCI-TCGA
ACVR2A	P27037	p.Asp90Asn	rs942825733	missense variant	-	NC_000002.12:g.147899462G>A	TOPMed,gnomAD
ACVR2A	P27037	p.Cys91Ser	rs1415374116	missense variant	-	NC_000002.12:g.147899465T>A	gnomAD
ACVR2A	P27037	p.Val92Ile	rs1041225697	missense variant	-	NC_000002.12:g.147899468G>A	TOPMed
ACVR2A	P27037	p.Glu93Gly	rs1354104220	missense variant	-	NC_000002.12:g.147899472A>G	gnomAD
ACVR2A	P27037	p.Glu93Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147899473A>T	NCI-TCGA
ACVR2A	P27037	p.Asp96ArgPheSerTerUnk	COSM4659207	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899471_147899472insA	NCI-TCGA Cosmic
ACVR2A	P27037	p.Asp96ThrPheSerTerUnkUnk	COSM1399823	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899472A>-	NCI-TCGA Cosmic
ACVR2A	P27037	p.Asp96Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147899480G>T	NCI-TCGA
ACVR2A	P27037	p.Asp96Asn	rs1309655016	missense variant	-	NC_000002.12:g.147899480G>A	gnomAD
ACVR2A	P27037	p.Ser97Gly	rs756733502	missense variant	-	NC_000002.12:g.147899483A>G	ExAC
ACVR2A	P27037	p.Ser97Asn	rs1289533816	missense variant	-	NC_000002.12:g.147899484G>A	gnomAD
ACVR2A	P27037	p.Cys103ValPheSerTerUnkUnk	COSM5192837	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899497T>-	NCI-TCGA Cosmic
ACVR2A	P27037	p.Asn108Ser	rs758019384	missense variant	-	NC_000002.12:g.147899517A>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Met109Val	rs1331334248	missense variant	-	NC_000002.12:g.147899519A>G	TOPMed
ACVR2A	P27037	p.Asn111Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147899525A>G	NCI-TCGA
ACVR2A	P27037	p.Glu112Ter	COSM1177261	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899528G>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Glu112Gly	rs141345586	missense variant	-	NC_000002.12:g.147899529A>G	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Lys113Arg	rs1483915666	missense variant	-	NC_000002.12:g.147899532A>G	gnomAD
ACVR2A	P27037	p.Ser115Phe	rs1251021144	missense variant	-	NC_000002.12:g.147899538C>T	gnomAD
ACVR2A	P27037	p.Phe117Val	rs140428453	missense variant	-	NC_000002.12:g.147899543T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Phe117Ile	rs140428453	missense variant	-	NC_000002.12:g.147899543T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Glu119Asp	rs561369241	missense variant	-	NC_000002.12:g.147899551G>C	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Met120Val	rs1477527129	missense variant	-	NC_000002.12:g.147899552A>G	gnomAD
ACVR2A	P27037	p.Val122Ile	rs773394065	missense variant	-	NC_000002.12:g.147899558G>A	ExAC,gnomAD
ACVR2A	P27037	p.Gln124Ter	COSM4926180	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899564C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Gln124His	rs1373961272	missense variant	-	NC_000002.12:g.147899566G>C	gnomAD
ACVR2A	P27037	p.Pro125Ser	rs1270181070	missense variant	-	NC_000002.12:g.147899567C>T	TOPMed,gnomAD
ACVR2A	P27037	p.Ser127GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147899748T>-	NCI-TCGA
ACVR2A	P27037	p.Val130Ile	COSM3971603	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147899758G>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Pro132Thr	rs1265942251	missense variant	-	NC_000002.12:g.147899764C>A	gnomAD
ACVR2A	P27037	p.Pro134Ser	rs746092637	missense variant	-	NC_000002.12:g.147899770C>T	ExAC,gnomAD
ACVR2A	P27037	p.Leu141Ile	rs375337197	missense variant	-	NC_000002.12:g.147899791C>A	ESP
ACVR2A	P27037	p.Leu144Phe	rs768405906	missense variant	-	NC_000002.12:g.147899802G>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val145Met	rs1187478240	missense variant	-	NC_000002.12:g.147899803G>A	gnomAD
ACVR2A	P27037	p.Val145Gly	rs138917994	missense variant	-	NC_000002.12:g.147899804T>G	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Leu147Val	COSM441199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147899809C>G	NCI-TCGA Cosmic
ACVR2A	P27037	p.Leu147Phe	rs1245484491	missense variant	-	NC_000002.12:g.147899809C>T	TOPMed
ACVR2A	P27037	p.Met148Val	rs1167587836	missense variant	-	NC_000002.12:g.147899812A>G	gnomAD
ACVR2A	P27037	p.Met148Thr	rs550819828	missense variant	-	NC_000002.12:g.147899813T>C	1000Genomes,TOPMed,gnomAD
ACVR2A	P27037	p.Met148Ile	rs761709451	missense variant	-	NC_000002.12:g.147899814G>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Leu149Phe	rs769746262	missense variant	-	NC_000002.12:g.147899817A>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ile150Met	COSM3567403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147899820T>G	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ala151Val	rs200433753	missense variant	-	NC_000002.12:g.147899822C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val154Ile	rs745880788	missense variant	-	NC_000002.12:g.147899830G>A	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ala157Val	rs374966134	missense variant	-	NC_000002.12:g.147899840C>T	ESP,TOPMed,gnomAD
ACVR2A	P27037	p.Val160Leu	rs1313394494	missense variant	-	NC_000002.12:g.147899848G>T	gnomAD
ACVR2A	P27037	p.Val160CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147899846G>-	NCI-TCGA
ACVR2A	P27037	p.Arg162Gly	rs146383418	missense variant	-	NC_000002.12:g.147899854A>G	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Arg162Lys	rs369418751	missense variant	-	NC_000002.12:g.147899855G>A	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.His164Arg	rs1238434692	missense variant	-	NC_000002.12:g.147899861A>G	TOPMed
ACVR2A	P27037	p.Lys165Gln	rs958769987	missense variant	-	NC_000002.12:g.147899863A>C	TOPMed
ACVR2A	P27037	p.Met166Ile	rs536573434	missense variant	-	NC_000002.12:g.147899868G>A	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Tyr168Ter	COSM4407995	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147899874C>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Pro170Ala	COSM4407992	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147899878C>G	NCI-TCGA Cosmic
ACVR2A	P27037	p.Pro170His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147899879C>A	NCI-TCGA
ACVR2A	P27037	p.Val171Glu	rs1393122963	missense variant	-	NC_000002.12:g.147899882T>A	gnomAD
ACVR2A	P27037	p.Val173Ile	rs1485120488	missense variant	-	NC_000002.12:g.147899887G>A	gnomAD
ACVR2A	P27037	p.Pro174Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147899890C>G	NCI-TCGA
ACVR2A	P27037	p.Pro178Ser	COSM475983	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147915194C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Pro181Thr	rs1015293914	missense variant	-	NC_000002.12:g.147915203C>A	TOPMed,gnomAD
ACVR2A	P27037	p.Pro183Ser	rs201389916	missense variant	-	NC_000002.12:g.147915209C>T	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Leu186Ile	COSM716485	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147915218T>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Leu187Arg	rs1430779701	missense variant	-	NC_000002.12:g.147915222T>G	TOPMed
ACVR2A	P27037	p.Pro191Leu	COSM3836949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147915234C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Gln193His	rs1187891286	missense variant	-	NC_000002.12:g.147915241G>T	TOPMed
ACVR2A	P27037	p.Ala199Pro	rs774344717	missense variant	-	NC_000002.12:g.147915257G>C	gnomAD
ACVR2A	P27037	p.Gly201Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147915264G>A	NCI-TCGA
ACVR2A	P27037	p.Arg202Thr	rs747180464	missense variant	-	NC_000002.12:g.147915267G>C	ExAC
ACVR2A	P27037	p.Cys205Ser	rs777511018	missense variant	-	NC_000002.12:g.147915275T>A	ExAC,gnomAD
ACVR2A	P27037	p.Trp207LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147915281_147915284TGGA>-	NCI-TCGA
ACVR2A	P27037	p.Gln210Leu	COSM6154268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147915291A>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Glu214Lys	rs770920471	missense variant	-	NC_000002.12:g.147915302G>A	NCI-TCGA,NCI-TCGA Cosmic
ACVR2A	P27037	p.Glu214Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.147915302G>T	NCI-TCGA
ACVR2A	P27037	p.Glu214Lys	rs770920471	missense variant	-	NC_000002.12:g.147915302G>A	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val216Met	rs774111875	missense variant	-	NC_000002.12:g.147915308G>A	ExAC
ACVR2A	P27037	p.Ile223Val	rs1489499469	missense variant	-	NC_000002.12:g.147915329A>G	gnomAD
ACVR2A	P27037	p.Ile223Met	rs1194558703	missense variant	-	NC_000002.12:g.147915331A>G	gnomAD
ACVR2A	P27037	p.Gln224Arg	rs775338527	missense variant	-	NC_000002.12:g.147915333A>G	ExAC,gnomAD
ACVR2A	P27037	p.Asp225Gly	rs1318556202	missense variant	-	NC_000002.12:g.147917284A>G	gnomAD
ACVR2A	P27037	p.Asp225Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147917285C>A	NCI-TCGA
ACVR2A	P27037	p.Lys226Arg	rs771677111	missense variant	-	NC_000002.12:g.147917287A>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Lys226SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147917284_147917287ACAA>-	NCI-TCGA
ACVR2A	P27037	p.Trp229Ter	COSM278610	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147917297G>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Glu232Ter	COSM3425265	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147917304G>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Glu234Lys	rs1381913043	missense variant	-	NC_000002.12:g.147917310G>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Glu234Asp	rs768445996	missense variant	-	NC_000002.12:g.147917312A>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Glu234Lys	rs1381913043	missense variant	-	NC_000002.12:g.147917310G>A	TOPMed,gnomAD
ACVR2A	P27037	p.Gly240Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147917329G>A	NCI-TCGA
ACVR2A	P27037	p.His243Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147917338A>T	NCI-TCGA
ACVR2A	P27037	p.Glu244Gln	COSM4846742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147917340G>C	NCI-TCGA Cosmic
ACVR2A	P27037	p.Gly251Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147917362G>A	NCI-TCGA
ACVR2A	P27037	p.Gly251Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147917361G>C	NCI-TCGA
ACVR2A	P27037	p.Lys254Ile	rs1158140322	missense variant	-	NC_000002.12:g.147917371A>T	gnomAD
ACVR2A	P27037	p.Arg255Ter	COSM1399827	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147917373C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Arg255Gln	rs766492712	missense variant	-	NC_000002.12:g.147917374G>A	ExAC,gnomAD
ACVR2A	P27037	p.Arg255ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147917367_147917368insA	NCI-TCGA
ACVR2A	P27037	p.Gly256Asp	COSM4085315	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147917377G>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Thr257Ala	rs1187138158	missense variant	-	NC_000002.12:g.147917379A>G	gnomAD
ACVR2A	P27037	p.Ser258Arg	rs34917571	missense variant	-	NC_000002.12:g.147917384T>G	UniProt,dbSNP
ACVR2A	P27037	p.Ser258Arg	VAR_032809	missense variant	-	NC_000002.12:g.147917384T>G	UniProt
ACVR2A	P27037	p.Ser258Arg	rs34917571	missense variant	-	NC_000002.12:g.147917384T>G	ExAC,gnomAD
ACVR2A	P27037	p.Ser258Gly	rs751657945	missense variant	-	NC_000002.12:g.147917382A>G	ExAC,gnomAD
ACVR2A	P27037	p.Asp260His	rs767727387	missense variant	-	NC_000002.12:g.147917388G>C	ExAC,gnomAD
ACVR2A	P27037	p.Val261Met	rs562464467	missense variant	-	NC_000002.12:g.147917391G>A	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Val261Leu	rs562464467	missense variant	-	NC_000002.12:g.147917391G>T	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Ala268Thr	rs1262996267	missense variant	-	NC_000002.12:g.147917412G>A	TOPMed
ACVR2A	P27037	p.Gly273Ser	rs769352263	missense variant	-	NC_000002.12:g.147918447G>A	ExAC,gnomAD
ACVR2A	P27037	p.Asn282Ile	COSM1481991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147918475A>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Val283Met	rs1249286464	missense variant	-	NC_000002.12:g.147918477G>A	gnomAD
ACVR2A	P27037	p.Glu288Ter	COSM1007184	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147918492G>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.His291Arg	rs749615583	missense variant	-	NC_000002.12:g.147918502A>G	ExAC,gnomAD
ACVR2A	P27037	p.Ile292Val	rs771224053	missense variant	-	NC_000002.12:g.147918504A>G	ExAC,gnomAD
ACVR2A	P27037	p.Glu294Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147918512A>C	NCI-TCGA
ACVR2A	P27037	p.Met296Thr	rs1253204877	missense variant	-	NC_000002.12:g.147918517T>C	gnomAD
ACVR2A	P27037	p.Met296Ile	rs774896692	missense variant	-	NC_000002.12:g.147918518G>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala297Val	rs760032206	missense variant	-	NC_000002.12:g.147918520C>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala297Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147918519G>A	NCI-TCGA
ACVR2A	P27037	p.Gly299Arg	COSM1007186	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147918525G>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Leu303Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147918538T>C	NCI-TCGA
ACVR2A	P27037	p.His304Gln	rs760761327	missense variant	-	NC_000002.12:g.147918542T>G	ExAC
ACVR2A	P27037	p.Asp306Asn	rs764255410	missense variant	-	NC_000002.12:g.147918546G>A	ExAC
ACVR2A	P27037	p.Asp306Asn	rs764255410	missense variant	-	NC_000002.12:g.147918546G>A	UniProt,dbSNP
ACVR2A	P27037	p.Asp306Asn	VAR_032810	missense variant	-	NC_000002.12:g.147918546G>A	UniProt
ACVR2A	P27037	p.Ile307Val	rs1268740838	missense variant	-	NC_000002.12:g.147918549A>G	gnomAD
ACVR2A	P27037	p.Pro308Arg	COSM441200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147918553C>G	NCI-TCGA Cosmic
ACVR2A	P27037	p.Pro308His	rs762855250	missense variant	-	NC_000002.12:g.147918553C>A	ExAC
ACVR2A	P27037	p.Gly309Ala	rs751618496	missense variant	-	NC_000002.12:g.147918556G>C	ExAC
ACVR2A	P27037	p.Leu310Gln	rs752176792	missense variant	-	NC_000002.12:g.147918559T>A	ExAC,gnomAD
ACVR2A	P27037	p.Leu310Ile	rs754936786	missense variant	-	NC_000002.12:g.147918558C>A	ExAC,gnomAD
ACVR2A	P27037	p.Lys311Asn	rs34582946	missense variant	-	NC_000002.12:g.147918563A>T	gnomAD
ACVR2A	P27037	p.Asp312Val	rs777299662	missense variant	-	NC_000002.12:g.147918565A>T	ExAC
ACVR2A	P27037	p.Asp312Glu	rs757686102	missense variant	-	NC_000002.12:g.147918566T>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Asp312Ala	rs777299662	missense variant	-	NC_000002.12:g.147918565A>C	ExAC
ACVR2A	P27037	p.Asp312Asn	rs755581998	missense variant	-	NC_000002.12:g.147918564G>A	ExAC
ACVR2A	P27037	p.Gly313Val	rs746422676	missense variant	-	NC_000002.12:g.147918568G>T	ExAC,gnomAD
ACVR2A	P27037	p.Gly313Ala	rs746422676	missense variant	-	NC_000002.12:g.147918568G>C	ExAC,gnomAD
ACVR2A	P27037	p.Gly313Cys	rs779215494	missense variant	-	NC_000002.12:g.147918567G>T	ExAC
ACVR2A	P27037	p.Gly313Asp	rs746422676	missense variant	-	NC_000002.12:g.147918568G>A	ExAC,gnomAD
ACVR2A	P27037	p.His314Asn	rs776779872	missense variant	-	NC_000002.12:g.147918570C>A	ExAC
ACVR2A	P27037	p.His314Gln	rs78013999	missense variant	-	NC_000002.12:g.147918572C>A	ExAC,gnomAD
ACVR2A	P27037	p.His314LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000002.12:g.147918570_147918571insTGGTGGCACTCAGCTAAGTATCTGTTCTGTG	NCI-TCGA
ACVR2A	P27037	p.His314Tyr	rs776779872	missense variant	-	NC_000002.12:g.147918570C>T	ExAC
ACVR2A	P27037	p.His314Pro	rs766319709	missense variant	-	NC_000002.12:g.147918571A>C	ExAC,gnomAD
ACVR2A	P27037	p.His314Arg	rs766319709	missense variant	-	NC_000002.12:g.147918571A>G	ExAC,gnomAD
ACVR2A	P27037	p.Lys315Asn	rs371059184	missense variant	-	NC_000002.12:g.147918575A>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ile318Met	COSM4414519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147918584A>G	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ile323Met	rs770165190	missense variant	-	NC_000002.12:g.147920236C>G	ExAC,gnomAD
ACVR2A	P27037	p.Asn327His	COSM3425266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147920246A>C	NCI-TCGA Cosmic
ACVR2A	P27037	p.Leu329Val	rs773498226	missense variant	-	NC_000002.12:g.147920252C>G	ExAC,gnomAD
ACVR2A	P27037	p.Leu334Met	rs149682383	missense variant	-	NC_000002.12:g.147920267C>A	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ala336Ser	COSM475984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147920273G>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ala336Asp	rs1241543071	missense variant	-	NC_000002.12:g.147920274C>A	TOPMed
ACVR2A	P27037	p.Ala336Thr	rs111862877	missense variant	-	NC_000002.12:g.147920273G>A	TOPMed
ACVR2A	P27037	p.Ile338Leu	rs1190692563	missense variant	-	NC_000002.12:g.147920279A>C	gnomAD
ACVR2A	P27037	p.Ala344Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147920298C>T	NCI-TCGA
ACVR2A	P27037	p.Ala344Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147920297G>A	NCI-TCGA
ACVR2A	P27037	p.Lys346Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147920304A>C	NCI-TCGA
ACVR2A	P27037	p.Glu348Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147920309G>A	NCI-TCGA
ACVR2A	P27037	p.Ala349Val	rs775352348	missense variant	-	NC_000002.12:g.147920313C>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala349Ser	rs777150989	missense variant	-	NC_000002.12:g.147920312G>T	ExAC,gnomAD
ACVR2A	P27037	p.Lys351Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147920318A>G	NCI-TCGA
ACVR2A	P27037	p.Ala353Thr	rs760629539	missense variant	-	NC_000002.12:g.147920324G>A	ExAC,gnomAD
ACVR2A	P27037	p.Ala353Val	rs1288007049	missense variant	-	NC_000002.12:g.147920325C>T	gnomAD
ACVR2A	P27037	p.Ala353Thr	rs760629539	missense variant	-	NC_000002.12:g.147920324G>A	NCI-TCGA,NCI-TCGA Cosmic
ACVR2A	P27037	p.Asp355Asn	rs761274834	missense variant	-	NC_000002.12:g.147920330G>A	ExAC,gnomAD
ACVR2A	P27037	p.Thr356Ile	rs1354318591	missense variant	-	NC_000002.12:g.147920334C>T	gnomAD
ACVR2A	P27037	p.His357Tyr	rs1051645003	missense variant	-	NC_000002.12:g.147920336C>T	TOPMed,gnomAD
ACVR2A	P27037	p.Gly358Arg	rs1317080991	missense variant	-	NC_000002.12:g.147920339G>A	gnomAD
ACVR2A	P27037	p.Gln359Glu	rs750020244	missense variant	-	NC_000002.12:g.147920342C>G	ExAC,gnomAD
ACVR2A	P27037	p.Arg363Trp	rs760336455	missense variant	-	NC_000002.12:g.147922982C>T	ExAC,gnomAD
ACVR2A	P27037	p.Met366Val	COSM4942203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147922991A>G	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ala367Thr	VAR_064692	Missense	-	-	UniProt
ACVR2A	P27037	p.Pro368Ser	COSM4085316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147922997C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Glu372Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.147923009G>T	NCI-TCGA
ACVR2A	P27037	p.Glu372Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147923010A>G	NCI-TCGA
ACVR2A	P27037	p.Ala374Ser	COSM716484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147923015G>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ile375Val	rs749606424	missense variant	-	NC_000002.12:g.147923018A>G	gnomAD
ACVR2A	P27037	p.Asn376His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147923021A>C	NCI-TCGA
ACVR2A	P27037	p.Gln378Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.147923027C>T	NCI-TCGA
ACVR2A	P27037	p.Arg379Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147923032G>T	NCI-TCGA
ACVR2A	P27037	p.Ala381Val	COSM1007188	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147923037C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ala381Ser	rs1208111152	missense variant	-	NC_000002.12:g.147923036G>T	gnomAD
ACVR2A	P27037	p.Leu383Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147923042T>G	NCI-TCGA
ACVR2A	P27037	p.Leu383Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147923039T>-	NCI-TCGA
ACVR2A	P27037	p.Arg384Thr	rs1258959405	missense variant	-	NC_000002.12:g.147923046G>C	TOPMed
ACVR2A	P27037	p.Ile385Met	rs1234738721	missense variant	-	NC_000002.12:g.147923050A>G	gnomAD
ACVR2A	P27037	p.Ile385Thr	rs1210983508	missense variant	-	NC_000002.12:g.147923049T>C	TOPMed
ACVR2A	P27037	p.Asp386Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147923051G>A	NCI-TCGA
ACVR2A	P27037	p.Met387Thr	rs919129287	missense variant	-	NC_000002.12:g.147923055T>C	TOPMed
ACVR2A	P27037	p.Met390Val	rs764714880	missense variant	-	NC_000002.12:g.147923063A>G	ExAC,gnomAD
ACVR2A	P27037	p.Val393Ile	rs1236542519	missense variant	-	NC_000002.12:g.147923072G>A	TOPMed,gnomAD
ACVR2A	P27037	p.Ala398Thr	rs1172432400	missense variant	-	NC_000002.12:g.147923087G>A	TOPMed,gnomAD
ACVR2A	P27037	p.Arg400Cys	rs751979337	missense variant	-	NC_000002.12:g.147923093C>T	ExAC,gnomAD
ACVR2A	P27037	p.Arg400His	rs1296122552	missense variant	-	NC_000002.12:g.147923094G>A	gnomAD
ACVR2A	P27037	p.Thr402Ile	rs199516039	missense variant	-	NC_000002.12:g.147923100C>T	ExAC,gnomAD
ACVR2A	P27037	p.Thr402Ser	rs199516039	missense variant	-	NC_000002.12:g.147923100C>G	ExAC,gnomAD
ACVR2A	P27037	p.Pro407Arg	rs1214607593	missense variant	-	NC_000002.12:g.147926034C>G	gnomAD
ACVR2A	P27037	p.Tyr411Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147926045T>G	NCI-TCGA
ACVR2A	P27037	p.Met412Thr	rs1381346962	missense variant	-	NC_000002.12:g.147926049T>C	TOPMed
ACVR2A	P27037	p.Glu418Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147926067A>G	NCI-TCGA
ACVR2A	P27037	p.Ile419Phe	rs1272750384	missense variant	-	NC_000002.12:g.147926069A>T	gnomAD
ACVR2A	P27037	p.Gln429Ter	COSM6050774	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147926099C>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Val431Ala	rs1360231167	missense variant	-	NC_000002.12:g.147926106T>C	gnomAD
ACVR2A	P27037	p.Val432Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147926109T>G	NCI-TCGA
ACVR2A	P27037	p.His434Leu	rs377566208	missense variant	-	NC_000002.12:g.147926115A>T	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Lys435Gln	rs1163808315	missense variant	-	NC_000002.12:g.147926117A>C	TOPMed,gnomAD
ACVR2A	P27037	p.Lys436Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147926120A>G	NCI-TCGA
ACVR2A	P27037	p.Lys437ArgPheSerTerUnk	rs764719749	frameshift	-	NC_000002.12:g.147926117A>-	NCI-TCGA,NCI-TCGA Cosmic
ACVR2A	P27037	p.Lys437Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147926123A>G	NCI-TCGA
ACVR2A	P27037	p.Lys437GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147926117_147926118AA>-	NCI-TCGA
ACVR2A	P27037	p.Arg438GluPheSerTerUnkUnk	COSM1399832	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147926116_147926117insA	NCI-TCGA Cosmic
ACVR2A	P27037	p.Asp443Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147926141G>A	NCI-TCGA
ACVR2A	P27037	p.Asp443Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147926141G>T	NCI-TCGA
ACVR2A	P27037	p.Gln446Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147926151A>C	NCI-TCGA
ACVR2A	P27037	p.Lys447Ter	COSM3894913	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147926153A>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ala449GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147926158_147926159insG	NCI-TCGA
ACVR2A	P27037	p.Met451SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147927084_147927090TGGCAAT>-	NCI-TCGA
ACVR2A	P27037	p.Met453Ile	rs1352764340	missense variant	-	NC_000002.12:g.147927091G>A	gnomAD
ACVR2A	P27037	p.Met453Val	rs762399265	missense variant	-	NC_000002.12:g.147927089A>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ile458Thr	rs1490498075	missense variant	-	NC_000002.12:g.147927105T>C	TOPMed
ACVR2A	P27037	p.Ala466Thr	rs749174459	missense variant	-	NC_000002.12:g.147927128G>A	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Gly473AspPheSerTerUnk	COSM205865	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147927149G>-	NCI-TCGA Cosmic
ACVR2A	P27037	p.Cys474TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147927151_147927167ATGTGTAGGTGAAAGAA>-	NCI-TCGA
ACVR2A	P27037	p.Gly476Arg	rs1439021007	missense variant	-	NC_000002.12:g.147927158G>C	TOPMed,gnomAD
ACVR2A	P27037	p.Gly476Asp	rs778260944	missense variant	-	NC_000002.12:g.147927159G>A	ExAC,gnomAD
ACVR2A	P27037	p.Arg478Ile	COSM1399833	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147927165G>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Met482Ile	COSM4085317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.147927178G>A	NCI-TCGA Cosmic
ACVR2A	P27037	p.Leu485Arg	rs1439498173	missense variant	-	NC_000002.12:g.147927186T>G	gnomAD
ACVR2A	P27037	p.Thr486Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.147927188A>G	NCI-TCGA
ACVR2A	P27037	p.Ile488Thr	rs141305891	missense variant	-	NC_000002.12:g.147927195T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ile489Thr	rs548287143	missense variant	-	NC_000002.12:g.147927198T>C	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Ile489Val	rs775215388	missense variant	-	NC_000002.12:g.147927197A>G	ExAC,gnomAD
ACVR2A	P27037	p.Thr490Asn	rs367648716	missense variant	-	NC_000002.12:g.147927201C>A	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Thr490Ile	rs367648716	missense variant	-	NC_000002.12:g.147927201C>T	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Asp493Asn	rs1043255902	missense variant	-	NC_000002.12:g.147927209G>A	TOPMed
ACVR2A	P27037	p.Ile494Thr	rs202050064	missense variant	-	NC_000002.12:g.147927213T>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val495Leu	rs765408586	missense variant	-	NC_000002.12:g.147927215G>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val497Ala	rs750494074	missense variant	-	NC_000002.12:g.147927222T>C	ExAC,gnomAD
ACVR2A	P27037	p.Met500Val	rs147624201	missense variant	-	NC_000002.12:g.147927230A>G	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val501Met	rs751725699	missense variant	-	NC_000002.12:g.147927233G>A	ExAC,gnomAD
ACVR2A	P27037	p.Asn503Tyr	rs1195823364	missense variant	-	NC_000002.12:g.147927239A>T	gnomAD
ACVR2A	P27037	p.Val504Ala	rs755965917	missense variant	-	NC_000002.12:g.147927243T>C	ExAC,gnomAD
ACVR2A	P27037	p.Pro507Leu	rs777395294	missense variant	-	NC_000002.12:g.147927252C>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Glu510Ter	COSM167400	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.147927260G>T	NCI-TCGA Cosmic
ACVR2A	P27037	p.Ser511Thr	rs750820855	missense variant	-	NC_000002.12:g.147927263T>A	TOPMed,gnomAD
ACVR2A	P27037	p.Ser511Cys	rs1206220819	missense variant	-	NC_000002.12:g.147927264C>G	gnomAD
ACVR2A	P27037	p.Ser512MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147927261_147927265AATCT>-	NCI-TCGA
ACVR2A	P27037	p.Ser512ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.147927267_147927268GT>-	NCI-TCGA
ACVR2A	P27037	p.Ala3Val	rs769549574	missense variant	-	NC_000002.12:g.147845160C>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala4Pro	rs533676933	missense variant	-	NC_000002.12:g.147845162G>C	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Lys6Glu	rs774979181	missense variant	-	NC_000002.12:g.147845168A>G	ExAC,gnomAD
ACVR2A	P27037	p.Ala8Ser	rs760028250	missense variant	-	NC_000002.12:g.147845174G>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala10Thr	rs1391719655	missense variant	-	NC_000002.12:g.147845180G>A	TOPMed
ACVR2A	P27037	p.Val11Ile	rs752749821	missense variant	-	NC_000002.12:g.147845183G>A	ExAC,gnomAD
ACVR2A	P27037	p.Phe12Val	rs1389950555	missense variant	-	NC_000002.12:g.147845186T>G	TOPMed
ACVR2A	P27037	p.Ile14Thr	rs1186296882	missense variant	-	NC_000002.12:g.147845193T>C	gnomAD
ACVR2A	P27037	p.Ser17Tyr	rs375035474	missense variant	-	NC_000002.12:g.147845202C>A	ESP,ExAC,gnomAD
ACVR2A	P27037	p.Ser17Cys	rs375035474	missense variant	-	NC_000002.12:g.147845202C>G	ESP,ExAC,gnomAD
ACVR2A	P27037	p.Ile21Met	rs755742197	missense variant	-	NC_000002.12:g.147896308A>G	ExAC,gnomAD
ACVR2A	P27037	p.Ile21Thr	rs752622036	missense variant	-	NC_000002.12:g.147896307T>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Leu22Ile	rs777144025	missense variant	-	NC_000002.12:g.147896309C>A	ExAC,gnomAD
ACVR2A	P27037	p.Gly23Asp	rs1036539489	missense variant	-	NC_000002.12:g.147896313G>A	TOPMed
ACVR2A	P27037	p.Thr27Ile	rs749005993	missense variant	-	NC_000002.12:g.147896325C>T	ExAC,gnomAD
ACVR2A	P27037	p.Glu29Gln	rs1453883828	missense variant	-	NC_000002.12:g.147896330G>C	gnomAD
ACVR2A	P27037	p.Leu31Phe	rs1246268853	missense variant	-	NC_000002.12:g.147896336C>T	gnomAD
ACVR2A	P27037	p.Leu31Arg	rs778576056	missense variant	-	NC_000002.12:g.147896337T>G	ExAC,gnomAD
ACVR2A	P27037	p.Leu31Val	rs1246268853	missense variant	-	NC_000002.12:g.147896336C>G	gnomAD
ACVR2A	P27037	p.Ala35Thr	rs746261161	missense variant	-	NC_000002.12:g.147896348G>A	ExAC,gnomAD
ACVR2A	P27037	p.Asp40Glu	rs930920460	missense variant	-	NC_000002.12:g.147896365C>A	TOPMed
ACVR2A	P27037	p.Thr42Ile	rs1413549279	missense variant	-	NC_000002.12:g.147896370C>T	TOPMed
ACVR2A	P27037	p.Thr45Ser	rs775992985	missense variant	-	NC_000002.12:g.147896379C>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Glu48Asp	rs768851334	missense variant	-	NC_000002.12:g.147896389A>T	ExAC,gnomAD
ACVR2A	P27037	p.Pro49Leu	rs776542712	missense variant	-	NC_000002.12:g.147896391C>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Asp53Glu	rs1436669424	missense variant	-	NC_000002.12:g.147896404C>A	gnomAD
ACVR2A	P27037	p.Ala62Val	rs1228095992	missense variant	-	NC_000002.12:g.147896430C>T	gnomAD
ACVR2A	P27037	p.Ile71Thr	rs759415672	missense variant	-	NC_000002.12:g.147896457T>C	ExAC,gnomAD
ACVR2A	P27037	p.Ile71Val	rs1426593767	missense variant	-	NC_000002.12:g.147896456A>G	gnomAD
ACVR2A	P27037	p.Ile73Val	rs1478720723	missense variant	-	NC_000002.12:g.147896462A>G	gnomAD
ACVR2A	P27037	p.Val74Leu	rs1451305276	missense variant	-	NC_000002.12:g.147896465G>C	TOPMed
ACVR2A	P27037	p.Ile83Val	rs1248849635	missense variant	-	NC_000002.12:g.147896492A>G	gnomAD
ACVR2A	P27037	p.Asp90Asn	rs942825733	missense variant	-	NC_000002.12:g.147899462G>A	TOPMed,gnomAD
ACVR2A	P27037	p.Cys91Ser	rs1415374116	missense variant	-	NC_000002.12:g.147899465T>A	gnomAD
ACVR2A	P27037	p.Val92Ile	rs1041225697	missense variant	-	NC_000002.12:g.147899468G>A	TOPMed
ACVR2A	P27037	p.Glu93Gly	rs1354104220	missense variant	-	NC_000002.12:g.147899472A>G	gnomAD
ACVR2A	P27037	p.Asp96Asn	rs1309655016	missense variant	-	NC_000002.12:g.147899480G>A	gnomAD
ACVR2A	P27037	p.Ser97Gly	rs756733502	missense variant	-	NC_000002.12:g.147899483A>G	ExAC
ACVR2A	P27037	p.Ser97Asn	rs1289533816	missense variant	-	NC_000002.12:g.147899484G>A	gnomAD
ACVR2A	P27037	p.Asn108Ser	rs758019384	missense variant	-	NC_000002.12:g.147899517A>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Met109Val	rs1331334248	missense variant	-	NC_000002.12:g.147899519A>G	TOPMed
ACVR2A	P27037	p.Glu112Gly	rs141345586	missense variant	-	NC_000002.12:g.147899529A>G	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Lys113Arg	rs1483915666	missense variant	-	NC_000002.12:g.147899532A>G	gnomAD
ACVR2A	P27037	p.Ser115Phe	rs1251021144	missense variant	-	NC_000002.12:g.147899538C>T	gnomAD
ACVR2A	P27037	p.Phe117Val	rs140428453	missense variant	-	NC_000002.12:g.147899543T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Phe117Ile	rs140428453	missense variant	-	NC_000002.12:g.147899543T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Glu119Asp	rs561369241	missense variant	-	NC_000002.12:g.147899551G>C	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Met120Val	rs1477527129	missense variant	-	NC_000002.12:g.147899552A>G	gnomAD
ACVR2A	P27037	p.Val122Ile	rs773394065	missense variant	-	NC_000002.12:g.147899558G>A	ExAC,gnomAD
ACVR2A	P27037	p.Gln124His	rs1373961272	missense variant	-	NC_000002.12:g.147899566G>C	gnomAD
ACVR2A	P27037	p.Pro125Ser	rs1270181070	missense variant	-	NC_000002.12:g.147899567C>T	TOPMed,gnomAD
ACVR2A	P27037	p.Pro132Thr	rs1265942251	missense variant	-	NC_000002.12:g.147899764C>A	gnomAD
ACVR2A	P27037	p.Pro134Ser	rs746092637	missense variant	-	NC_000002.12:g.147899770C>T	ExAC,gnomAD
ACVR2A	P27037	p.Leu141Ile	rs375337197	missense variant	-	NC_000002.12:g.147899791C>A	ESP
ACVR2A	P27037	p.Leu144Phe	rs768405906	missense variant	-	NC_000002.12:g.147899802G>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val145Met	rs1187478240	missense variant	-	NC_000002.12:g.147899803G>A	gnomAD
ACVR2A	P27037	p.Val145Gly	rs138917994	missense variant	-	NC_000002.12:g.147899804T>G	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Leu147Phe	rs1245484491	missense variant	-	NC_000002.12:g.147899809C>T	TOPMed
ACVR2A	P27037	p.Met148Val	rs1167587836	missense variant	-	NC_000002.12:g.147899812A>G	gnomAD
ACVR2A	P27037	p.Met148Thr	rs550819828	missense variant	-	NC_000002.12:g.147899813T>C	1000Genomes,TOPMed,gnomAD
ACVR2A	P27037	p.Met148Ile	rs761709451	missense variant	-	NC_000002.12:g.147899814G>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Leu149Phe	rs769746262	missense variant	-	NC_000002.12:g.147899817A>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ala151Val	rs200433753	missense variant	-	NC_000002.12:g.147899822C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val154Ile	rs745880788	missense variant	-	NC_000002.12:g.147899830G>A	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ala157Val	rs374966134	missense variant	-	NC_000002.12:g.147899840C>T	ESP,TOPMed,gnomAD
ACVR2A	P27037	p.Val160Leu	rs1313394494	missense variant	-	NC_000002.12:g.147899848G>T	gnomAD
ACVR2A	P27037	p.Arg162Gly	rs146383418	missense variant	-	NC_000002.12:g.147899854A>G	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Arg162Lys	rs369418751	missense variant	-	NC_000002.12:g.147899855G>A	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.His164Arg	rs1238434692	missense variant	-	NC_000002.12:g.147899861A>G	TOPMed
ACVR2A	P27037	p.Lys165Gln	rs958769987	missense variant	-	NC_000002.12:g.147899863A>C	TOPMed
ACVR2A	P27037	p.Met166Ile	rs536573434	missense variant	-	NC_000002.12:g.147899868G>A	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Val171Glu	rs1393122963	missense variant	-	NC_000002.12:g.147899882T>A	gnomAD
ACVR2A	P27037	p.Val173Ile	rs1485120488	missense variant	-	NC_000002.12:g.147899887G>A	gnomAD
ACVR2A	P27037	p.Pro181Thr	rs1015293914	missense variant	-	NC_000002.12:g.147915203C>A	TOPMed,gnomAD
ACVR2A	P27037	p.Pro183Ser	rs201389916	missense variant	-	NC_000002.12:g.147915209C>T	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Leu187Arg	rs1430779701	missense variant	-	NC_000002.12:g.147915222T>G	TOPMed
ACVR2A	P27037	p.Gln193His	rs1187891286	missense variant	-	NC_000002.12:g.147915241G>T	TOPMed
ACVR2A	P27037	p.Ala199Pro	rs774344717	missense variant	-	NC_000002.12:g.147915257G>C	gnomAD
ACVR2A	P27037	p.Arg202Thr	rs747180464	missense variant	-	NC_000002.12:g.147915267G>C	ExAC
ACVR2A	P27037	p.Cys205Ser	rs777511018	missense variant	-	NC_000002.12:g.147915275T>A	ExAC,gnomAD
ACVR2A	P27037	p.Glu214Lys	rs770920471	missense variant	-	NC_000002.12:g.147915302G>A	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val216Met	rs774111875	missense variant	-	NC_000002.12:g.147915308G>A	ExAC
ACVR2A	P27037	p.Ile223Val	rs1489499469	missense variant	-	NC_000002.12:g.147915329A>G	gnomAD
ACVR2A	P27037	p.Ile223Met	rs1194558703	missense variant	-	NC_000002.12:g.147915331A>G	gnomAD
ACVR2A	P27037	p.Gln224Arg	rs775338527	missense variant	-	NC_000002.12:g.147915333A>G	ExAC,gnomAD
ACVR2A	P27037	p.Asp225Gly	rs1318556202	missense variant	-	NC_000002.12:g.147917284A>G	gnomAD
ACVR2A	P27037	p.Lys226Arg	rs771677111	missense variant	-	NC_000002.12:g.147917287A>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Glu234Lys	rs1381913043	missense variant	-	NC_000002.12:g.147917310G>A	TOPMed,gnomAD
ACVR2A	P27037	p.Glu234Asp	rs768445996	missense variant	-	NC_000002.12:g.147917312A>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Lys254Ile	rs1158140322	missense variant	-	NC_000002.12:g.147917371A>T	gnomAD
ACVR2A	P27037	p.Arg255Gln	rs766492712	missense variant	-	NC_000002.12:g.147917374G>A	ExAC,gnomAD
ACVR2A	P27037	p.Thr257Ala	rs1187138158	missense variant	-	NC_000002.12:g.147917379A>G	gnomAD
ACVR2A	P27037	p.Ser258Gly	rs751657945	missense variant	-	NC_000002.12:g.147917382A>G	ExAC,gnomAD
ACVR2A	P27037	p.Ser258Arg	rs34917571	missense variant	-	NC_000002.12:g.147917384T>G	ExAC,gnomAD
ACVR2A	P27037	p.Ser258Arg	rs34917571	missense variant	-	NC_000002.12:g.147917384T>G	UniProt,dbSNP
ACVR2A	P27037	p.Ser258Arg	VAR_032809	missense variant	-	NC_000002.12:g.147917384T>G	UniProt
ACVR2A	P27037	p.Asp260His	rs767727387	missense variant	-	NC_000002.12:g.147917388G>C	ExAC,gnomAD
ACVR2A	P27037	p.Val261Leu	rs562464467	missense variant	-	NC_000002.12:g.147917391G>T	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Val261Met	rs562464467	missense variant	-	NC_000002.12:g.147917391G>A	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Ala268Thr	rs1262996267	missense variant	-	NC_000002.12:g.147917412G>A	TOPMed
ACVR2A	P27037	p.Gly273Ser	rs769352263	missense variant	-	NC_000002.12:g.147918447G>A	ExAC,gnomAD
ACVR2A	P27037	p.Val283Met	rs1249286464	missense variant	-	NC_000002.12:g.147918477G>A	gnomAD
ACVR2A	P27037	p.His291Arg	rs749615583	missense variant	-	NC_000002.12:g.147918502A>G	ExAC,gnomAD
ACVR2A	P27037	p.Ile292Val	rs771224053	missense variant	-	NC_000002.12:g.147918504A>G	ExAC,gnomAD
ACVR2A	P27037	p.Met296Thr	rs1253204877	missense variant	-	NC_000002.12:g.147918517T>C	gnomAD
ACVR2A	P27037	p.Met296Ile	rs774896692	missense variant	-	NC_000002.12:g.147918518G>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala297Val	rs760032206	missense variant	-	NC_000002.12:g.147918520C>T	ExAC,gnomAD
ACVR2A	P27037	p.His304Gln	rs760761327	missense variant	-	NC_000002.12:g.147918542T>G	ExAC
ACVR2A	P27037	p.Asp306Asn	rs764255410	missense variant	-	NC_000002.12:g.147918546G>A	UniProt,dbSNP
ACVR2A	P27037	p.Asp306Asn	VAR_032810	missense variant	-	NC_000002.12:g.147918546G>A	UniProt
ACVR2A	P27037	p.Asp306Asn	rs764255410	missense variant	-	NC_000002.12:g.147918546G>A	ExAC
ACVR2A	P27037	p.Ile307Val	rs1268740838	missense variant	-	NC_000002.12:g.147918549A>G	gnomAD
ACVR2A	P27037	p.Pro308His	rs762855250	missense variant	-	NC_000002.12:g.147918553C>A	ExAC
ACVR2A	P27037	p.Gly309Ala	rs751618496	missense variant	-	NC_000002.12:g.147918556G>C	ExAC
ACVR2A	P27037	p.Leu310Ile	rs754936786	missense variant	-	NC_000002.12:g.147918558C>A	ExAC,gnomAD
ACVR2A	P27037	p.Leu310Gln	rs752176792	missense variant	-	NC_000002.12:g.147918559T>A	ExAC,gnomAD
ACVR2A	P27037	p.Lys311Asn	rs34582946	missense variant	-	NC_000002.12:g.147918563A>T	gnomAD
ACVR2A	P27037	p.Asp312Val	rs777299662	missense variant	-	NC_000002.12:g.147918565A>T	ExAC
ACVR2A	P27037	p.Asp312Ala	rs777299662	missense variant	-	NC_000002.12:g.147918565A>C	ExAC
ACVR2A	P27037	p.Asp312Glu	rs757686102	missense variant	-	NC_000002.12:g.147918566T>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Asp312Asn	rs755581998	missense variant	-	NC_000002.12:g.147918564G>A	ExAC
ACVR2A	P27037	p.Gly313Cys	rs779215494	missense variant	-	NC_000002.12:g.147918567G>T	ExAC
ACVR2A	P27037	p.Gly313Val	rs746422676	missense variant	-	NC_000002.12:g.147918568G>T	ExAC,gnomAD
ACVR2A	P27037	p.Gly313Ala	rs746422676	missense variant	-	NC_000002.12:g.147918568G>C	ExAC,gnomAD
ACVR2A	P27037	p.Gly313Asp	rs746422676	missense variant	-	NC_000002.12:g.147918568G>A	ExAC,gnomAD
ACVR2A	P27037	p.His314Arg	rs766319709	missense variant	-	NC_000002.12:g.147918571A>G	ExAC,gnomAD
ACVR2A	P27037	p.His314Asn	rs776779872	missense variant	-	NC_000002.12:g.147918570C>A	ExAC
ACVR2A	P27037	p.His314Gln	rs78013999	missense variant	-	NC_000002.12:g.147918572C>A	ExAC,gnomAD
ACVR2A	P27037	p.His314Tyr	rs776779872	missense variant	-	NC_000002.12:g.147918570C>T	ExAC
ACVR2A	P27037	p.His314Pro	rs766319709	missense variant	-	NC_000002.12:g.147918571A>C	ExAC,gnomAD
ACVR2A	P27037	p.Lys315Asn	rs371059184	missense variant	-	NC_000002.12:g.147918575A>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ile323Met	rs770165190	missense variant	-	NC_000002.12:g.147920236C>G	ExAC,gnomAD
ACVR2A	P27037	p.Leu329Val	rs773498226	missense variant	-	NC_000002.12:g.147920252C>G	ExAC,gnomAD
ACVR2A	P27037	p.Leu334Met	rs149682383	missense variant	-	NC_000002.12:g.147920267C>A	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ala336Thr	rs111862877	missense variant	-	NC_000002.12:g.147920273G>A	TOPMed
ACVR2A	P27037	p.Ala336Asp	rs1241543071	missense variant	-	NC_000002.12:g.147920274C>A	TOPMed
ACVR2A	P27037	p.Ile338Leu	rs1190692563	missense variant	-	NC_000002.12:g.147920279A>C	gnomAD
ACVR2A	P27037	p.Ala349Val	rs775352348	missense variant	-	NC_000002.12:g.147920313C>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala349Ser	rs777150989	missense variant	-	NC_000002.12:g.147920312G>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala353Val	rs1288007049	missense variant	-	NC_000002.12:g.147920325C>T	gnomAD
ACVR2A	P27037	p.Ala353Thr	rs760629539	missense variant	-	NC_000002.12:g.147920324G>A	ExAC,gnomAD
ACVR2A	P27037	p.Asp355Asn	rs761274834	missense variant	-	NC_000002.12:g.147920330G>A	ExAC,gnomAD
ACVR2A	P27037	p.Thr356Ile	rs1354318591	missense variant	-	NC_000002.12:g.147920334C>T	gnomAD
ACVR2A	P27037	p.His357Tyr	rs1051645003	missense variant	-	NC_000002.12:g.147920336C>T	TOPMed,gnomAD
ACVR2A	P27037	p.Gly358Arg	rs1317080991	missense variant	-	NC_000002.12:g.147920339G>A	gnomAD
ACVR2A	P27037	p.Gln359Glu	rs750020244	missense variant	-	NC_000002.12:g.147920342C>G	ExAC,gnomAD
ACVR2A	P27037	p.Arg363Trp	rs760336455	missense variant	-	NC_000002.12:g.147922982C>T	ExAC,gnomAD
ACVR2A	P27037	p.Ala367Thr	VAR_064692	Missense	-	-	UniProt
ACVR2A	P27037	p.Ile375Val	rs749606424	missense variant	-	NC_000002.12:g.147923018A>G	gnomAD
ACVR2A	P27037	p.Ala381Ser	rs1208111152	missense variant	-	NC_000002.12:g.147923036G>T	gnomAD
ACVR2A	P27037	p.Arg384Thr	rs1258959405	missense variant	-	NC_000002.12:g.147923046G>C	TOPMed
ACVR2A	P27037	p.Ile385Met	rs1234738721	missense variant	-	NC_000002.12:g.147923050A>G	gnomAD
ACVR2A	P27037	p.Ile385Thr	rs1210983508	missense variant	-	NC_000002.12:g.147923049T>C	TOPMed
ACVR2A	P27037	p.Met387Thr	rs919129287	missense variant	-	NC_000002.12:g.147923055T>C	TOPMed
ACVR2A	P27037	p.Met390Val	rs764714880	missense variant	-	NC_000002.12:g.147923063A>G	ExAC,gnomAD
ACVR2A	P27037	p.Val393Ile	rs1236542519	missense variant	-	NC_000002.12:g.147923072G>A	TOPMed,gnomAD
ACVR2A	P27037	p.Ala398Thr	rs1172432400	missense variant	-	NC_000002.12:g.147923087G>A	TOPMed,gnomAD
ACVR2A	P27037	p.Arg400Cys	rs751979337	missense variant	-	NC_000002.12:g.147923093C>T	ExAC,gnomAD
ACVR2A	P27037	p.Arg400His	rs1296122552	missense variant	-	NC_000002.12:g.147923094G>A	gnomAD
ACVR2A	P27037	p.Thr402Ile	rs199516039	missense variant	-	NC_000002.12:g.147923100C>T	ExAC,gnomAD
ACVR2A	P27037	p.Thr402Ser	rs199516039	missense variant	-	NC_000002.12:g.147923100C>G	ExAC,gnomAD
ACVR2A	P27037	p.Pro407Arg	rs1214607593	missense variant	-	NC_000002.12:g.147926034C>G	gnomAD
ACVR2A	P27037	p.Met412Thr	rs1381346962	missense variant	-	NC_000002.12:g.147926049T>C	TOPMed
ACVR2A	P27037	p.Ile419Phe	rs1272750384	missense variant	-	NC_000002.12:g.147926069A>T	gnomAD
ACVR2A	P27037	p.Val431Ala	rs1360231167	missense variant	-	NC_000002.12:g.147926106T>C	gnomAD
ACVR2A	P27037	p.His434Leu	rs377566208	missense variant	-	NC_000002.12:g.147926115A>T	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Lys435Gln	rs1163808315	missense variant	-	NC_000002.12:g.147926117A>C	TOPMed,gnomAD
ACVR2A	P27037	p.Met453Ile	rs1352764340	missense variant	-	NC_000002.12:g.147927091G>A	gnomAD
ACVR2A	P27037	p.Met453Val	rs762399265	missense variant	-	NC_000002.12:g.147927089A>G	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ile458Thr	rs1490498075	missense variant	-	NC_000002.12:g.147927105T>C	TOPMed
ACVR2A	P27037	p.Ala466Thr	rs749174459	missense variant	-	NC_000002.12:g.147927128G>A	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Gly476Asp	rs778260944	missense variant	-	NC_000002.12:g.147927159G>A	ExAC,gnomAD
ACVR2A	P27037	p.Gly476Arg	rs1439021007	missense variant	-	NC_000002.12:g.147927158G>C	TOPMed,gnomAD
ACVR2A	P27037	p.Leu485Arg	rs1439498173	missense variant	-	NC_000002.12:g.147927186T>G	gnomAD
ACVR2A	P27037	p.Ile488Thr	rs141305891	missense variant	-	NC_000002.12:g.147927195T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ile489Thr	rs548287143	missense variant	-	NC_000002.12:g.147927198T>C	1000Genomes,ExAC,gnomAD
ACVR2A	P27037	p.Ile489Val	rs775215388	missense variant	-	NC_000002.12:g.147927197A>G	ExAC,gnomAD
ACVR2A	P27037	p.Thr490Ile	rs367648716	missense variant	-	NC_000002.12:g.147927201C>T	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Thr490Asn	rs367648716	missense variant	-	NC_000002.12:g.147927201C>A	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Asp493Asn	rs1043255902	missense variant	-	NC_000002.12:g.147927209G>A	TOPMed
ACVR2A	P27037	p.Ile494Thr	rs202050064	missense variant	-	NC_000002.12:g.147927213T>C	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val495Leu	rs765408586	missense variant	-	NC_000002.12:g.147927215G>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val497Ala	rs750494074	missense variant	-	NC_000002.12:g.147927222T>C	ExAC,gnomAD
ACVR2A	P27037	p.Met500Val	rs147624201	missense variant	-	NC_000002.12:g.147927230A>G	ESP,ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Val501Met	rs751725699	missense variant	-	NC_000002.12:g.147927233G>A	ExAC,gnomAD
ACVR2A	P27037	p.Asn503Tyr	rs1195823364	missense variant	-	NC_000002.12:g.147927239A>T	gnomAD
ACVR2A	P27037	p.Val504Ala	rs755965917	missense variant	-	NC_000002.12:g.147927243T>C	ExAC,gnomAD
ACVR2A	P27037	p.Pro507Leu	rs777395294	missense variant	-	NC_000002.12:g.147927252C>T	ExAC,TOPMed,gnomAD
ACVR2A	P27037	p.Ser511Thr	rs750820855	missense variant	-	NC_000002.12:g.147927263T>A	TOPMed,gnomAD
ACVR2A	P27037	p.Ser511Cys	rs1206220819	missense variant	-	NC_000002.12:g.147927264C>G	gnomAD
MAPK3	P27361	p.Ala2Glu	rs1186880470	missense variant	-	NC_000016.10:g.30123205G>T	gnomAD
MAPK3	P27361	p.Ala3Val	rs1487093652	missense variant	-	NC_000016.10:g.30123202G>A	gnomAD
MAPK3	P27361	p.Ala3Glu	rs1487093652	missense variant	-	NC_000016.10:g.30123202G>T	gnomAD
MAPK3	P27361	p.Ala4Val	rs1271627688	missense variant	-	NC_000016.10:g.30123199G>A	gnomAD
MAPK3	P27361	p.Ala5Gly	rs757216432	missense variant	-	NC_000016.10:g.30123196G>C	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ala5Val	rs757216432	missense variant	-	NC_000016.10:g.30123196G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ala6Gly	rs1203827432	missense variant	-	NC_000016.10:g.30123193G>C	gnomAD
MAPK3	P27361	p.Ala6Thr	rs753603085	missense variant	-	NC_000016.10:g.30123194C>T	ExAC,TOPMed
MAPK3	P27361	p.Gln7Arg	rs1267157456	missense variant	-	NC_000016.10:g.30123190T>C	TOPMed,gnomAD
MAPK3	P27361	p.Gln7Glu	rs1464704515	missense variant	-	NC_000016.10:g.30123191G>C	gnomAD
MAPK3	P27361	p.Gly8Arg	rs1275164140	missense variant	-	NC_000016.10:g.30123188C>G	TOPMed,gnomAD
MAPK3	P27361	p.Gly8Trp	rs1275164140	missense variant	-	NC_000016.10:g.30123188C>A	TOPMed,gnomAD
MAPK3	P27361	p.Gly9Asp	rs559183760	missense variant	-	NC_000016.10:g.30123184C>T	1000Genomes,ExAC,gnomAD
MAPK3	P27361	p.Gly9Ala	rs559183760	missense variant	-	NC_000016.10:g.30123184C>G	1000Genomes,ExAC,gnomAD
MAPK3	P27361	p.Gly11Val	rs955881745	missense variant	-	NC_000016.10:g.30123178C>A	TOPMed,gnomAD
MAPK3	P27361	p.Gly11Ala	rs955881745	missense variant	-	NC_000016.10:g.30123178C>G	TOPMed,gnomAD
MAPK3	P27361	p.Gly12Trp	rs767677001	missense variant	-	NC_000016.10:g.30123176C>A	ExAC,gnomAD
MAPK3	P27361	p.Glu13Lys	rs1461921044	missense variant	-	NC_000016.10:g.30123173C>T	gnomAD
MAPK3	P27361	p.Glu13Asp	rs1031507615	missense variant	-	NC_000016.10:g.30123171C>G	TOPMed
MAPK3	P27361	p.Pro14His	rs759741789	missense variant	-	NC_000016.10:g.30123169G>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg15Cys	rs766922585	missense variant	-	NC_000016.10:g.30123167G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg16Gly	rs1314762868	missense variant	-	NC_000016.10:g.30123164T>C	TOPMed,gnomAD
MAPK3	P27361	p.Arg16Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30123163C>A	NCI-TCGA
MAPK3	P27361	p.Glu18Asp	rs1452164335	missense variant	-	NC_000016.10:g.30123156C>G	gnomAD
MAPK3	P27361	p.Glu18Gln	COSM1301856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30123158C>G	NCI-TCGA Cosmic
MAPK3	P27361	p.Gly19Ala	rs1468414653	missense variant	-	NC_000016.10:g.30123154C>G	TOPMed
MAPK3	P27361	p.Gly21Cys	rs773609716	missense variant	-	NC_000016.10:g.30123149C>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Gly21Ser	rs773609716	missense variant	-	NC_000016.10:g.30123149C>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Pro22Leu	rs770120964	missense variant	-	NC_000016.10:g.30123145G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Val24SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.30123140C>-	NCI-TCGA
MAPK3	P27361	p.Pro25Ser	rs1044163469	missense variant	-	NC_000016.10:g.30123137G>A	TOPMed
MAPK3	P27361	p.Gly26Glu	rs775053127	missense variant	-	NC_000016.10:g.30123133C>T	ExAC,gnomAD
MAPK3	P27361	p.Glu27Asp	rs1372891365	missense variant	-	NC_000016.10:g.30123129C>A	gnomAD
MAPK3	P27361	p.Glu27Lys	rs1302416785	missense variant	-	NC_000016.10:g.30123131C>T	gnomAD
MAPK3	P27361	p.Glu27ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.30123131C>-	NCI-TCGA
MAPK3	P27361	p.Glu29Gly	rs1336432605	missense variant	-	NC_000016.10:g.30123124T>C	TOPMed
MAPK3	P27361	p.Met30Thr	rs1326850245	missense variant	-	NC_000016.10:g.30123121A>G	gnomAD
MAPK3	P27361	p.Val31Gly	rs375146669	missense variant	-	NC_000016.10:g.30123118A>C	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Val31Ala	rs375146669	missense variant	-	NC_000016.10:g.30123118A>G	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Gly33Trp	rs865801855	missense variant	-	NC_000016.10:g.30123113C>A	gnomAD
MAPK3	P27361	p.Gly33Glu	rs1280565276	missense variant	-	NC_000016.10:g.30123112C>T	TOPMed
MAPK3	P27361	p.Asp37Glu	rs980128823	missense variant	-	NC_000016.10:g.30123099G>C	TOPMed,gnomAD
MAPK3	P27361	p.Val38Leu	rs1394035337	missense variant	-	NC_000016.10:g.30123098C>A	TOPMed,gnomAD
MAPK3	P27361	p.Val38Met	rs1394035337	missense variant	-	NC_000016.10:g.30123098C>T	TOPMed,gnomAD
MAPK3	P27361	p.Gly39Cys	rs1173425325	missense variant	-	NC_000016.10:g.30123095C>A	gnomAD
MAPK3	P27361	p.Pro40Ser	rs555123973	missense variant	-	NC_000016.10:g.30123092G>A	1000Genomes,ExAC,gnomAD
MAPK3	P27361	p.Pro40Gln	rs755905535	missense variant	-	NC_000016.10:g.30123091G>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Pro40Leu	rs755905535	missense variant	-	NC_000016.10:g.30123091G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg41His	rs1437705688	missense variant	-	NC_000016.10:g.30123088C>T	gnomAD
MAPK3	P27361	p.Tyr42Cys	rs752945713	missense variant	-	NC_000016.10:g.30123085T>C	ExAC,gnomAD
MAPK3	P27361	p.Thr43Met	rs781519812	missense variant	-	NC_000016.10:g.30123082G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Gln44Ter	rs755251449	stop gained	-	NC_000016.10:g.30123080G>A	ExAC,gnomAD
MAPK3	P27361	p.Leu45Phe	rs751628704	missense variant	-	NC_000016.10:g.30123075C>A	ExAC,gnomAD
MAPK3	P27361	p.Gln46His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30123072C>G	NCI-TCGA
MAPK3	P27361	p.Ile48Thr	rs766621106	missense variant	-	NC_000016.10:g.30123067A>G	ExAC,gnomAD
MAPK3	P27361	p.Tyr53Ter	rs1374312265	stop gained	-	NC_000016.10:g.30123051G>C	TOPMed,gnomAD
MAPK3	P27361	p.Gly54Cys	rs1313150757	missense variant	-	NC_000016.10:g.30123050C>A	gnomAD
MAPK3	P27361	p.Gly54Ser	rs1313150757	missense variant	-	NC_000016.10:g.30123050C>T	gnomAD
MAPK3	P27361	p.Met55Arg	rs889768664	missense variant	-	NC_000016.10:g.30123046A>C	TOPMed,gnomAD
MAPK3	P27361	p.Met55Leu	rs762034287	missense variant	-	NC_000016.10:g.30123047T>G	ExAC,gnomAD
MAPK3	P27361	p.Met55Thr	rs889768664	missense variant	-	NC_000016.10:g.30123046A>G	TOPMed,gnomAD
MAPK3	P27361	p.Val56Gly	rs1157149769	missense variant	-	NC_000016.10:g.30123043A>C	gnomAD
MAPK3	P27361	p.Ser58Ter	rs1370684329	stop gained	-	NC_000016.10:g.30122004G>T	gnomAD
MAPK3	P27361	p.Ser58Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30122004G>A	NCI-TCGA
MAPK3	P27361	p.Tyr60Cys	rs147961867	missense variant	-	NC_000016.10:g.30121998T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Val63Met	rs200617125	missense variant	-	NC_000016.10:g.30121990C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg64Pro	rs1196812695	missense variant	-	NC_000016.10:g.30121986C>G	TOPMed
MAPK3	P27361	p.Arg64Gly	rs753070820	missense variant	-	NC_000016.10:g.30121987G>C	ExAC,gnomAD
MAPK3	P27361	p.Arg64Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30121986C>A	NCI-TCGA
MAPK3	P27361	p.Arg67Ser	rs567762331	missense variant	-	NC_000016.10:g.30121978G>T	1000Genomes,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg67Gly	rs567762331	missense variant	-	NC_000016.10:g.30121978G>C	1000Genomes,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg67Leu	rs772578869	missense variant	-	NC_000016.10:g.30121977C>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg67His	rs772578869	missense variant	-	NC_000016.10:g.30121977C>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg67Cys	rs567762331	missense variant	-	NC_000016.10:g.30121978G>A	1000Genomes,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Val68Met	rs776770058	missense variant	-	NC_000016.10:g.30121975C>T	ExAC,gnomAD
MAPK3	P27361	p.Val68Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30121975C>A	NCI-TCGA
MAPK3	P27361	p.Ala69Asp	rs768729666	missense variant	-	NC_000016.10:g.30121971G>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ile70Val	rs746736375	missense variant	-	NC_000016.10:g.30121969T>C	ExAC,gnomAD
MAPK3	P27361	p.Ile70Met	rs775457072	missense variant	-	NC_000016.10:g.30121967G>C	ExAC,gnomAD
MAPK3	P27361	p.Ile73Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30121958G>C	NCI-TCGA
MAPK3	P27361	p.Ser74Asn	rs1483843681	missense variant	-	NC_000016.10:g.30121956C>T	gnomAD
MAPK3	P27361	p.Pro75Leu	rs1277805136	missense variant	-	NC_000016.10:g.30121953G>A	gnomAD
MAPK3	P27361	p.Phe76Leu	rs772136444	missense variant	-	NC_000016.10:g.30121949G>C	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Glu77Gln	rs778826879	missense variant	-	NC_000016.10:g.30121948C>G	ExAC,gnomAD
MAPK3	P27361	p.Glu77Asp	rs771108532	missense variant	-	NC_000016.10:g.30121946T>A	ExAC,gnomAD
MAPK3	P27361	p.Glu77Lys	rs778826879	missense variant	-	NC_000016.10:g.30121948C>T	ExAC,gnomAD
MAPK3	P27361	p.His78Tyr	rs749779624	missense variant	-	NC_000016.10:g.30121945G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Gln79His	rs778192562	missense variant	-	NC_000016.10:g.30121940C>G	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Gln79His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30121940C>A	NCI-TCGA
MAPK3	P27361	p.Tyr81His	rs1297705239	missense variant	-	NC_000016.10:g.30121936A>G	gnomAD
MAPK3	P27361	p.Cys82Arg	rs756613927	missense variant	-	NC_000016.10:g.30121933A>G	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Cys82Tyr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30121932C>T	NCI-TCGA
MAPK3	P27361	p.Arg84Leu	rs757959447	missense variant	-	NC_000016.10:g.30121926C>A	ExAC,gnomAD
MAPK3	P27361	p.Arg84Cys	rs781660515	missense variant	-	NC_000016.10:g.30121927G>A	ExAC,gnomAD
MAPK3	P27361	p.Arg84His	COSM4875436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30121926C>T	NCI-TCGA Cosmic
MAPK3	P27361	p.Thr85Lys	rs1375850297	missense variant	-	NC_000016.10:g.30121923G>T	gnomAD
MAPK3	P27361	p.Arg87Trp	rs750160678	missense variant	-	NC_000016.10:g.30121918G>A	ExAC,gnomAD
MAPK3	P27361	p.Arg87Gln	rs374549766	missense variant	-	NC_000016.10:g.30121917C>T	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Glu88Lys	rs1315743155	missense variant	-	NC_000016.10:g.30121915C>T	TOPMed
MAPK3	P27361	p.Ile89Val	rs141047495	missense variant	-	NC_000016.10:g.30121912T>C	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Leu92Val	rs1209777305	missense variant	-	NC_000016.10:g.30121903G>C	gnomAD
MAPK3	P27361	p.Leu93Gln	rs760710625	missense variant	-	NC_000016.10:g.30121899A>T	ExAC,gnomAD
MAPK3	P27361	p.Arg94Leu	rs1212630199	missense variant	-	NC_000016.10:g.30121896C>A	gnomAD
MAPK3	P27361	p.Arg94Cys	COSM471620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30121897G>A	NCI-TCGA Cosmic
MAPK3	P27361	p.Arg96Gly	rs771940747	missense variant	-	NC_000016.10:g.30121891G>C	ExAC,gnomAD
MAPK3	P27361	p.Arg96Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30121891G>A	NCI-TCGA
MAPK3	P27361	p.His97Leu	rs1229544781	missense variant	-	NC_000016.10:g.30121887T>A	gnomAD
MAPK3	P27361	p.Glu98Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30121885C>T	NCI-TCGA
MAPK3	P27361	p.Val100Ile	rs759671938	missense variant	-	NC_000016.10:g.30121879C>T	ExAC,gnomAD
MAPK3	P27361	p.Gly102Ser	rs1291454132	missense variant	-	NC_000016.10:g.30121873C>T	TOPMed,gnomAD
MAPK3	P27361	p.Gly102Arg	rs1291454132	missense variant	-	NC_000016.10:g.30121873C>G	TOPMed,gnomAD
MAPK3	P27361	p.Gly102Asp	COSM3508753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30121872C>T	NCI-TCGA Cosmic
MAPK3	P27361	p.Arg104Gln	rs774690695	missense variant	-	NC_000016.10:g.30121866C>T	ExAC
MAPK3	P27361	p.Arg108Trp	rs1414402131	missense variant	-	NC_000016.10:g.30121855G>A	gnomAD
MAPK3	P27361	p.Arg108Gln	rs771152806	missense variant	-	NC_000016.10:g.30121854C>T	ExAC,gnomAD
MAPK3	P27361	p.Ala109Ser	rs749295922	missense variant	-	NC_000016.10:g.30121852C>A	ExAC,gnomAD
MAPK3	P27361	p.Thr111Pro	rs1159823467	missense variant	-	NC_000016.10:g.30121846T>G	TOPMed,gnomAD
MAPK3	P27361	p.Thr111Ala	rs1159823467	missense variant	-	NC_000016.10:g.30121846T>C	TOPMed,gnomAD
MAPK3	P27361	p.Leu112Pro	rs969998383	missense variant	-	NC_000016.10:g.30121842A>G	gnomAD
MAPK3	P27361	p.Glu113Lys	rs976845326	missense variant	-	NC_000016.10:g.30121840C>T	TOPMed,gnomAD
MAPK3	P27361	p.Ala114Val	rs61736373	missense variant	-	NC_000016.10:g.30121836G>A	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ala114Gly	rs61736373	missense variant	-	NC_000016.10:g.30121836G>C	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ile120Val	rs767419781	missense variant	-	NC_000016.10:g.30118534T>C	ExAC,gnomAD
MAPK3	P27361	p.Ile120Thr	rs945368057	missense variant	-	NC_000016.10:g.30118533A>G	TOPMed,gnomAD
MAPK3	P27361	p.Val121Leu	rs1312251788	missense variant	-	NC_000016.10:g.30118531C>A	TOPMed
MAPK3	P27361	p.Ser135Arg	rs751316636	missense variant	-	NC_000016.10:g.30118487G>C	ExAC,gnomAD
MAPK3	P27361	p.Gln136HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.30118484_30118485insTG	NCI-TCGA
MAPK3	P27361	p.Gln136Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.30118486G>A	NCI-TCGA
MAPK3	P27361	p.Gln137Arg	rs1272004454	missense variant	-	NC_000016.10:g.30118482T>C	TOPMed
MAPK3	P27361	p.Leu138Arg	rs1194104997	missense variant	-	NC_000016.10:g.30118479A>C	gnomAD
MAPK3	P27361	p.Asn140Ser	rs921399991	missense variant	-	NC_000016.10:g.30118473T>C	TOPMed,gnomAD
MAPK3	P27361	p.His142Arg	rs1275674122	missense variant	-	NC_000016.10:g.30118467T>C	TOPMed,gnomAD
MAPK3	P27361	p.Tyr148Cys	COSM4060085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30118449T>C	NCI-TCGA Cosmic
MAPK3	P27361	p.Arg152Pro	rs1302344555	missense variant	-	NC_000016.10:g.30118437C>G	gnomAD
MAPK3	P27361	p.Arg152Trp	COSM1478780	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30118438G>A	NCI-TCGA Cosmic
MAPK3	P27361	p.Ile157Phe	rs369434621	missense variant	-	NC_000016.10:g.30118423T>A	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.His158Leu	rs1434947666	missense variant	-	NC_000016.10:g.30118419T>A	TOPMed
MAPK3	P27361	p.His158Tyr	rs761888725	missense variant	-	NC_000016.10:g.30118420G>A	ExAC,gnomAD
MAPK3	P27361	p.Ala160Thr	rs769159731	missense variant	-	NC_000016.10:g.30118414C>T	ExAC,gnomAD
MAPK3	P27361	p.Ala160Val	rs747519025	missense variant	-	NC_000016.10:g.30118413G>A	ExAC,gnomAD
MAPK3	P27361	p.Asn161Ser	rs1374038009	missense variant	-	NC_000016.10:g.30118410T>C	gnomAD
MAPK3	P27361	p.Val162Met	rs1430679556	missense variant	-	NC_000016.10:g.30118408C>T	TOPMed
MAPK3	P27361	p.His164Pro	rs1170802161	missense variant	-	NC_000016.10:g.30118401T>G	TOPMed
MAPK3	P27361	p.Arg165Gln	rs1379935159	missense variant	-	NC_000016.10:g.30118398C>T	TOPMed,gnomAD
MAPK3	P27361	p.Arg165Ter	rs1173483036	stop gained	-	NC_000016.10:g.30118399G>A	TOPMed,gnomAD
MAPK3	P27361	p.Arg165Leu	rs1379935159	missense variant	-	NC_000016.10:g.30118398C>A	TOPMed,gnomAD
MAPK3	P27361	p.Leu167Val	rs1248034366	missense variant	-	NC_000016.10:g.30118393G>C	TOPMed,gnomAD
MAPK3	P27361	p.Asn171Ile	rs1180252391	missense variant	-	NC_000016.10:g.30118380T>A	gnomAD
MAPK3	P27361	p.Leu173Val	rs1472345530	missense variant	-	NC_000016.10:g.30118375G>C	gnomAD
MAPK3	P27361	p.Leu173Pro	rs1252612325	missense variant	-	NC_000016.10:g.30118374A>G	gnomAD
MAPK3	P27361	p.Asn175Thr	rs191342631	missense variant	-	NC_000016.10:g.30118368T>G	1000Genomes,ExAC,gnomAD
MAPK3	P27361	p.Asn175Ser	rs191342631	missense variant	-	NC_000016.10:g.30118368T>C	1000Genomes,ExAC,gnomAD
MAPK3	P27361	p.Ile182Val	rs759912582	missense variant	-	NC_000016.10:g.30118163T>C	ExAC,gnomAD
MAPK3	P27361	p.Ile182Asn	COSM1301852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30118162A>T	NCI-TCGA Cosmic
MAPK3	P27361	p.Ala188Val	rs747800465	missense variant	-	NC_000016.10:g.30118144G>A	ExAC,gnomAD
MAPK3	P27361	p.Arg189Gly	rs780719391	missense variant	-	NC_000016.10:g.30118142G>C	ExAC,gnomAD
MAPK3	P27361	p.Arg189Gln	rs768111899	missense variant	-	NC_000016.10:g.30118141C>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg189Trp	rs780719391	missense variant	-	NC_000016.10:g.30118142G>A	ExAC,gnomAD
MAPK3	P27361	p.Ala191Thr	rs1416421966	missense variant	-	NC_000016.10:g.30118136C>T	TOPMed
MAPK3	P27361	p.Asp192Val	rs1449756762	missense variant	-	NC_000016.10:g.30118132T>A	gnomAD
MAPK3	P27361	p.Asp192Asn	rs1284498604	missense variant	-	NC_000016.10:g.30118133C>T	gnomAD
MAPK3	P27361	p.His195Arg	rs758366759	missense variant	-	NC_000016.10:g.30118123T>C	ExAC,gnomAD
MAPK3	P27361	p.His195Leu	rs758366759	missense variant	-	NC_000016.10:g.30118123T>A	ExAC,gnomAD
MAPK3	P27361	p.Thr198Ser	rs1159063202	missense variant	-	NC_000016.10:g.30118114G>C	TOPMed
MAPK3	P27361	p.Thr198Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30118114G>A	NCI-TCGA
MAPK3	P27361	p.Gly199Ala	rs1335287328	missense variant	-	NC_000016.10:g.30118111C>G	gnomAD
MAPK3	P27361	p.Gly199Ser	rs1435051948	missense variant	-	NC_000016.10:g.30118112C>T	gnomAD
MAPK3	P27361	p.Leu201Pro	rs1389956626	missense variant	-	NC_000016.10:g.30118105A>G	gnomAD
MAPK3	P27361	p.Thr202Met	rs1321995174	missense variant	-	NC_000016.10:g.30118102G>A	TOPMed
MAPK3	P27361	p.Thr207Met	rs200652640	missense variant	-	NC_000016.10:g.30118087G>A	gnomAD
MAPK3	P27361	p.Thr207Lys	rs200652640	missense variant	-	NC_000016.10:g.30118087G>T	gnomAD
MAPK3	P27361	p.Arg208His	rs754076411	missense variant	-	NC_000016.10:g.30118084C>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Tyr210Ser	rs1473863224	missense variant	-	NC_000016.10:g.30118078T>G	TOPMed,gnomAD
MAPK3	P27361	p.ArgAlaProGluIleMetLeuAsnSerLys211ArgAlaProGluIleMetLeuAsnSerAsnGlyProGlnArgSerCysTerThrProUnk	rs1289903922	stop gained	-	NC_000016.10:g.30118048_30118076dup	gnomAD
MAPK3	P27361	p.Arg211Trp	rs764219989	missense variant	-	NC_000016.10:g.30118076G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg211Gln	rs1187651122	missense variant	-	NC_000016.10:g.30118075C>T	TOPMed,gnomAD
MAPK3	P27361	p.Glu214Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30118065C>A	NCI-TCGA
MAPK3	P27361	p.Ile215Val	rs1249867970	missense variant	-	NC_000016.10:g.30118064T>C	TOPMed,gnomAD
MAPK3	P27361	p.Ile215Thr	rs1441994509	missense variant	-	NC_000016.10:g.30118063A>G	TOPMed
MAPK3	P27361	p.Ile215Leu	rs1249867970	missense variant	-	NC_000016.10:g.30118064T>G	TOPMed,gnomAD
MAPK3	P27361	p.Lys224Asn	rs763165244	missense variant	-	NC_000016.10:g.30117773C>G	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ser225Cys	rs1425849315	missense variant	-	NC_000016.10:g.30117771G>C	gnomAD
MAPK3	P27361	p.Ile226Val	rs773660441	missense variant	-	NC_000016.10:g.30117769T>C	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Asp227Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30117766C>T	NCI-TCGA
MAPK3	P27361	p.Ile228Val	rs1208471014	missense variant	-	NC_000016.10:g.30117763T>C	TOPMed
MAPK3	P27361	p.Val231Met	rs1289763589	missense variant	-	NC_000016.10:g.30117754C>T	TOPMed
MAPK3	P27361	p.Gly232Ala	rs981009203	missense variant	-	NC_000016.10:g.30117750C>G	TOPMed,gnomAD
MAPK3	P27361	p.Gly232Val	rs981009203	missense variant	-	NC_000016.10:g.30117750C>A	TOPMed,gnomAD
MAPK3	P27361	p.Cys233Tyr	rs1277248636	missense variant	-	NC_000016.10:g.30117747C>T	gnomAD
MAPK3	P27361	p.Ser240Cys	rs774952017	missense variant	-	NC_000016.10:g.30117726G>C	ExAC,gnomAD
MAPK3	P27361	p.Arg242Gln	rs1287735708	missense variant	-	NC_000016.10:g.30117720C>T	TOPMed,gnomAD
MAPK3	P27361	p.Arg242Trp	rs745793573	missense variant	-	NC_000016.10:g.30117721G>A	ExAC,gnomAD
MAPK3	P27361	p.Pro246Ser	rs1187527463	missense variant	-	NC_000016.10:g.30117709G>A	TOPMed
MAPK3	P27361	p.Asn255Ser	rs1405884583	missense variant	-	NC_000016.10:g.30117681T>C	TOPMed
MAPK3	P27361	p.Leu258Pro	rs1359519711	missense variant	-	NC_000016.10:g.30117672A>G	gnomAD
MAPK3	P27361	p.Leu258Met	rs1465396263	missense variant	-	NC_000016.10:g.30117673G>T	gnomAD
MAPK3	P27361	p.Ser265Pro	rs1436855694	missense variant	-	NC_000016.10:g.30117268A>G	TOPMed
MAPK3	P27361	p.Asp268Asn	rs1388847305	missense variant	-	NC_000016.10:g.30117259C>T	gnomAD
MAPK3	P27361	p.Leu269Pro	COSM1588410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30117255A>G	NCI-TCGA Cosmic
MAPK3	P27361	p.Ile272Val	rs749294480	missense variant	-	NC_000016.10:g.30117247T>C	ExAC,gnomAD
MAPK3	P27361	p.Ile273Val	rs1017891903	missense variant	-	NC_000016.10:g.30117244T>C	TOPMed
MAPK3	P27361	p.Ile273Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30117242G>C	NCI-TCGA
MAPK3	P27361	p.Ala277Pro	rs772848887	missense variant	-	NC_000016.10:g.30117232C>G	ExAC,gnomAD
MAPK3	P27361	p.Arg278Ter	rs769773760	stop gained	-	NC_000016.10:g.30117229G>A	ExAC,gnomAD
MAPK3	P27361	p.Asn279Lys	rs1263696399	missense variant	-	NC_000016.10:g.30117224G>C	gnomAD
MAPK3	P27361	p.Tyr280His	rs1244338832	missense variant	-	NC_000016.10:g.30117223A>G	gnomAD
MAPK3	P27361	p.Leu281Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30117220G>T	NCI-TCGA
MAPK3	P27361	p.Leu284Val	rs748363746	missense variant	-	NC_000016.10:g.30117211G>C	ExAC,gnomAD
MAPK3	P27361	p.Ser286Thr	rs781501542	missense variant	-	NC_000016.10:g.30117205A>T	ExAC,gnomAD
MAPK3	P27361	p.Ser286Phe	rs1225959995	missense variant	-	NC_000016.10:g.30117204G>A	gnomAD
MAPK3	P27361	p.Val290Met	rs755286262	missense variant	-	NC_000016.10:g.30117193C>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Val290Ala	COSM282662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30117192A>G	NCI-TCGA Cosmic
MAPK3	P27361	p.Ala291Asp	rs747014104	missense variant	-	NC_000016.10:g.30117189G>T	ExAC,gnomAD
MAPK3	P27361	p.Ala291Thr	rs1437119658	missense variant	-	NC_000016.10:g.30117190C>T	gnomAD
MAPK3	P27361	p.Trp292Ter	rs1458119852	stop gained	-	NC_000016.10:g.30117186C>T	gnomAD
MAPK3	P27361	p.Ala293Gly	rs758801293	missense variant	-	NC_000016.10:g.30117183G>C	ExAC,gnomAD
MAPK3	P27361	p.Leu295Phe	rs751006818	missense variant	-	NC_000016.10:g.30117178G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Pro297Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30117172G>A	NCI-TCGA
MAPK3	P27361	p.Asp300Ala	rs11546680	missense variant	-	NC_000016.10:g.30117162T>G	ExAC,TOPMed
MAPK3	P27361	p.Asp300Val	rs11546680	missense variant	-	NC_000016.10:g.30117162T>A	ExAC,TOPMed
MAPK3	P27361	p.Asp300Gly	rs11546680	missense variant	-	NC_000016.10:g.30117162T>C	ExAC,TOPMed
MAPK3	P27361	p.Ser301Pro	rs757561553	missense variant	-	NC_000016.10:g.30117160A>G	ExAC,gnomAD
MAPK3	P27361	p.Lys302Arg	rs754204507	missense variant	-	NC_000016.10:g.30117156T>C	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ala303Val	rs1393537562	missense variant	-	NC_000016.10:g.30117003G>A	gnomAD
MAPK3	P27361	p.Leu304Phe	rs1172563462	missense variant	-	NC_000016.10:g.30117001G>A	TOPMed,gnomAD
MAPK3	P27361	p.Leu304Val	rs1172563462	missense variant	-	NC_000016.10:g.30117001G>C	TOPMed,gnomAD
MAPK3	P27361	p.Leu304Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30117000A>G	NCI-TCGA
MAPK3	P27361	p.Asp305Glu	rs975482399	missense variant	-	NC_000016.10:g.30116996G>C	TOPMed,gnomAD
MAPK3	P27361	p.Asp305Glu	rs975482399	missense variant	-	NC_000016.10:g.30116996G>T	TOPMed,gnomAD
MAPK3	P27361	p.Leu307Met	rs1472294951	missense variant	-	NC_000016.10:g.30116992G>T	gnomAD
MAPK3	P27361	p.Arg309Trp	rs762464616	missense variant	-	NC_000016.10:g.30116986G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg309Leu	rs1019644388	missense variant	-	NC_000016.10:g.30116985C>A	TOPMed,gnomAD
MAPK3	P27361	p.Arg309Gln	rs1019644388	missense variant	-	NC_000016.10:g.30116985C>T	TOPMed,gnomAD
MAPK3	P27361	p.Met310Ile	rs749988410	missense variant	-	NC_000016.10:g.30116981C>T	ExAC,gnomAD
MAPK3	P27361	p.Thr312Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30116976G>C	NCI-TCGA
MAPK3	P27361	p.Asn314Ile	COSM4858512	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30116970T>A	NCI-TCGA Cosmic
MAPK3	P27361	p.Arg318Gln	rs752551671	missense variant	-	NC_000016.10:g.30116958C>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg318Trp	rs755904687	missense variant	-	NC_000016.10:g.30116959G>A	ExAC,gnomAD
MAPK3	P27361	p.Glu322Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30116946T>G	NCI-TCGA
MAPK3	P27361	p.Glu323Lys	rs55859133	missense variant	-	NC_000016.10:g.30116944C>T	UniProt,dbSNP
MAPK3	P27361	p.Glu323Lys	VAR_042253	missense variant	-	NC_000016.10:g.30116944C>T	UniProt
MAPK3	P27361	p.Glu323Lys	rs55859133	missense variant	-	NC_000016.10:g.30116944C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Glu323Asp	rs896753662	missense variant	-	NC_000016.10:g.30116942T>G	TOPMed
MAPK3	P27361	p.Ala324Val	rs1329197803	missense variant	-	NC_000016.10:g.30116940G>A	TOPMed,gnomAD
MAPK3	P27361	p.Ala326Thr	rs775725620	missense variant	-	NC_000016.10:g.30116935C>T	ExAC,gnomAD
MAPK3	P27361	p.Ala326Gly	rs1339088523	missense variant	-	NC_000016.10:g.30116934G>C	gnomAD
MAPK3	P27361	p.Ala326Pro	rs775725620	missense variant	-	NC_000016.10:g.30116935C>G	ExAC,gnomAD
MAPK3	P27361	p.Ala326Ser	rs775725620	missense variant	-	NC_000016.10:g.30116935C>A	ExAC,gnomAD
MAPK3	P27361	p.His327Asn	rs766518304	missense variant	-	NC_000016.10:g.30116932G>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.His327Tyr	rs766518304	missense variant	-	NC_000016.10:g.30116932G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Pro328Ser	rs1167791407	missense variant	-	NC_000016.10:g.30116929G>A	gnomAD
MAPK3	P27361	p.Leu330Val	rs778983958	missense variant	-	NC_000016.10:g.30116923G>C	ExAC,gnomAD
MAPK3	P27361	p.Glu331Gln	rs202207118	missense variant	-	NC_000016.10:g.30116920C>G	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Asp335Glu	rs1250178194	missense variant	-	NC_000016.10:g.30116906G>T	gnomAD
MAPK3	P27361	p.Asp335Asn	COSM3794789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30116908C>T	NCI-TCGA Cosmic
MAPK3	P27361	p.Pro336Leu	rs778102867	missense variant	-	NC_000016.10:g.30116904G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Pro336Ser	rs749833759	missense variant	-	NC_000016.10:g.30116905G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Thr337Met	rs527481960	missense variant	-	NC_000016.10:g.30116901G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Thr337Lys	rs527481960	missense variant	-	NC_000016.10:g.30116901G>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Val341Glu	rs764055195	missense variant	-	NC_000016.10:g.30116786A>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Val341Ala	rs764055195	missense variant	-	NC_000016.10:g.30116786A>G	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Glu343Asp	rs1182054221	missense variant	-	NC_000016.10:g.30116779C>A	TOPMed
MAPK3	P27361	p.Glu343Ter	rs752512625	stop gained	-	NC_000016.10:g.30116781C>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Glu343Lys	rs752512625	missense variant	-	NC_000016.10:g.30116781C>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Glu343Gln	rs752512625	missense variant	-	NC_000016.10:g.30116781C>G	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Thr347Pro	rs1330587787	missense variant	-	NC_000016.10:g.30116769T>G	gnomAD
MAPK3	P27361	p.Ala349Val	rs774610689	missense variant	-	NC_000016.10:g.30116762G>A	ExAC,gnomAD
MAPK3	P27361	p.Ala349Ser	rs759750021	missense variant	-	NC_000016.10:g.30116763C>A	ExAC,gnomAD
MAPK3	P27361	p.Ala349Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30116763C>T	NCI-TCGA
MAPK3	P27361	p.Met350Val	rs762951234	missense variant	-	NC_000016.10:g.30116760T>C	ExAC,gnomAD
MAPK3	P27361	p.Asp353Gly	rs773193659	missense variant	-	NC_000016.10:g.30116750T>C	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Asp354Ala	rs770315722	missense variant	-	NC_000016.10:g.30116747T>G	ExAC,TOPMed
MAPK3	P27361	p.Pro356Ser	rs141882258	missense variant	-	NC_000016.10:g.30116742G>A	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg359Gln	rs1246728652	missense variant	-	NC_000016.10:g.30116732C>T	TOPMed,gnomAD
MAPK3	P27361	p.Arg359Trp	rs777053157	missense variant	-	NC_000016.10:g.30116733G>A	ExAC,gnomAD
MAPK3	P27361	p.Arg359Leu	COSM6144429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.30116732C>A	NCI-TCGA Cosmic
MAPK3	P27361	p.Leu360Val	rs1427624736	missense variant	-	NC_000016.10:g.30116730G>C	TOPMed
MAPK3	P27361	p.Glu362Lys	rs747392494	missense variant	-	NC_000016.10:g.30116724C>T	ExAC,gnomAD
MAPK3	P27361	p.Leu363Phe	rs912617565	missense variant	-	NC_000016.10:g.30116721G>A	gnomAD
MAPK3	P27361	p.Gln366His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.30116710C>A	NCI-TCGA
MAPK3	P27361	p.Glu367Gly	rs1308413252	missense variant	-	NC_000016.10:g.30116708T>C	TOPMed,gnomAD
MAPK3	P27361	p.Arg370His	rs376745934	missense variant	-	NC_000016.10:g.30116699C>T	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg370Ser	rs756047833	missense variant	-	NC_000016.10:g.30116700G>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Arg370Cys	rs756047833	missense variant	-	NC_000016.10:g.30116700G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Phe371Cys	rs986826212	missense variant	-	NC_000016.10:g.30116696A>C	gnomAD
MAPK3	P27361	p.Gln372Arg	rs754705731	missense variant	-	NC_000016.10:g.30116693T>C	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Pro373Leu	rs1274257423	missense variant	-	NC_000016.10:g.30116690G>A	TOPMed
MAPK3	P27361	p.Pro373Ser	rs751357233	missense variant	-	NC_000016.10:g.30116691G>A	ExAC,gnomAD
MAPK3	P27361	p.Gly374Arg	rs372149021	missense variant	-	NC_000016.10:g.30116688C>G	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Gly374Arg	rs372149021	missense variant	-	NC_000016.10:g.30116688C>T	ESP,ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ala378Val	rs765303927	missense variant	-	NC_000016.10:g.30116675G>A	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ala378Asp	rs765303927	missense variant	-	NC_000016.10:g.30116675G>T	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ter380Trp	rs776945868	stop lost	-	NC_000016.10:g.30116669T>C	ExAC,TOPMed,gnomAD
MAPK3	P27361	p.Ter380Tyr	rs1193845457	stop lost	-	NC_000016.10:g.30116668C>A	TOPMed
MSX1	P28360	p.Ala2Thr	rs1413209274	missense variant	-	NC_000004.12:g.4859903G>A	TOPMed
MSX1	P28360	p.Ala2Val	rs976201663	missense variant	-	NC_000004.12:g.4859904C>T	TOPMed,gnomAD
MSX1	P28360	p.Pro3Leu	rs761452131	missense variant	-	NC_000004.12:g.4859907C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro3Thr	rs868309417	missense variant	-	NC_000004.12:g.4859906C>A	gnomAD
MSX1	P28360	p.Ala4Asp	rs923026617	missense variant	-	NC_000004.12:g.4859910C>A	TOPMed,gnomAD
MSX1	P28360	p.Ala4Gly	rs923026617	missense variant	-	NC_000004.12:g.4859910C>G	TOPMed,gnomAD
MSX1	P28360	p.Ala4Thr	rs1202846198	missense variant	-	NC_000004.12:g.4859909G>A	TOPMed
MSX1	P28360	p.Ala5Ser	rs1266003330	missense variant	-	NC_000004.12:g.4859912G>T	TOPMed
MSX1	P28360	p.Asp6Asn	rs978852634	missense variant	-	NC_000004.12:g.4859915G>A	TOPMed
MSX1	P28360	p.Met7Lys	rs1456398408	missense variant	-	NC_000004.12:g.4859919T>A	gnomAD
MSX1	P28360	p.Leu10Ser	rs767362471	missense variant	-	NC_000004.12:g.4859928T>C	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly13Val	rs1448405080	missense variant	-	NC_000004.12:g.4859937G>T	TOPMed,gnomAD
MSX1	P28360	p.Gly13Ala	rs1448405080	missense variant	-	NC_000004.12:g.4859937G>C	TOPMed,gnomAD
MSX1	P28360	p.Gly13Ser	rs955681045	missense variant	-	NC_000004.12:g.4859936G>A	gnomAD
MSX1	P28360	p.Gly13Arg	rs955681045	missense variant	-	NC_000004.12:g.4859936G>C	gnomAD
MSX1	P28360	p.Val14Phe	rs750342298	missense variant	-	NC_000004.12:g.4859939G>T	ExAC,gnomAD
MSX1	P28360	p.Val14Ile	rs750342298	missense variant	-	NC_000004.12:g.4859939G>A	ExAC,gnomAD
MSX1	P28360	p.Val14Asp	rs1376968278	missense variant	-	NC_000004.12:g.4859940T>A	gnomAD
MSX1	P28360	p.Lys15Glu	rs1286830821	missense variant	-	NC_000004.12:g.4859942A>G	TOPMed
MSX1	P28360	p.Val16Gly	rs1409658284	missense variant	-	NC_000004.12:g.4859946T>G	TOPMed
MSX1	P28360	p.Ala20Gly	rs753951764	missense variant	-	NC_000004.12:g.4859958C>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala20Val	rs753951764	missense variant	-	NC_000004.12:g.4859958C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala20Thr	rs766466650	missense variant	-	NC_000004.12:g.4859957G>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly22Asp	rs755151662	missense variant	-	NC_000004.12:g.4859964G>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly22Arg	rs1039605872	missense variant	-	NC_000004.12:g.4859963G>C	TOPMed
MSX1	P28360	p.Ala25Glu	rs778933360	missense variant	-	NC_000004.12:g.4859973C>A	ExAC,TOPMed
MSX1	P28360	p.Gly26Ala	rs567549350	missense variant	-	NC_000004.12:g.4859976G>C	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly26Glu	rs567549350	missense variant	-	NC_000004.12:g.4859976G>A	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly26Val	rs567549350	missense variant	-	NC_000004.12:g.4859976G>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly26Trp	rs752978243	missense variant	-	NC_000004.12:g.4859975G>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly26Arg	rs752978243	missense variant	-	NC_000004.12:g.4859975G>C	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly27Ter	rs778232428	stop gained	-	NC_000004.12:g.4859978G>T	ExAC,gnomAD
MSX1	P28360	p.Gly27Glu	rs1412105867	missense variant	-	NC_000004.12:g.4859979G>A	TOPMed,gnomAD
MSX1	P28360	p.Gly27Val	rs1412105867	missense variant	-	NC_000004.12:g.4859979G>T	TOPMed,gnomAD
MSX1	P28360	p.Gly27Arg	rs778232428	missense variant	-	NC_000004.12:g.4859978G>A	ExAC,gnomAD
MSX1	P28360	p.Gly28Ter	RCV000016016	frameshift	Selective tooth agenesis 1 (STHAG1)	NC_000004.12:g.4859980dup	ClinVar
MSX1	P28360	p.Ala29Val	RCV000537833	missense variant	Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)	NC_000004.12:g.4859985C>T	ClinVar
MSX1	P28360	p.Ala29Val	rs530217423	missense variant	-	NC_000004.12:g.4859985C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala29Ser	rs1456183219	missense variant	-	NC_000004.12:g.4859984G>T	gnomAD
MSX1	P28360	p.Gly30Val	rs1414674827	missense variant	-	NC_000004.12:g.4859988G>T	gnomAD
MSX1	P28360	p.Gly30Ala	rs1414674827	missense variant	-	NC_000004.12:g.4859988G>C	gnomAD
MSX1	P28360	p.Gly30Ser	rs1208866578	missense variant	-	NC_000004.12:g.4859987G>A	TOPMed
MSX1	P28360	p.Gly30Asp	rs1414674827	missense variant	-	NC_000004.12:g.4859988G>A	gnomAD
MSX1	P28360	p.Gly30Ala	RCV000550347	missense variant	Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)	NC_000004.12:g.4859988G>C	ClinVar
MSX1	P28360	p.Ala32Ser	rs1306079473	missense variant	-	NC_000004.12:g.4859993G>T	TOPMed,gnomAD
MSX1	P28360	p.Ala32Val	rs771408025	missense variant	-	NC_000004.12:g.4859994C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro33Ala	rs1005731232	missense variant	-	NC_000004.12:g.4859996C>G	TOPMed,gnomAD
MSX1	P28360	p.Ala35Thr	rs1226714798	missense variant	-	NC_000004.12:g.4860002G>A	gnomAD
MSX1	P28360	p.Ala36Thr	rs1346030752	missense variant	-	NC_000004.12:g.4860005G>A	gnomAD
MSX1	P28360	p.Ala37Val	rs748795757	missense variant	-	NC_000004.12:g.4860009C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala37Glu	rs748795757	missense variant	-	NC_000004.12:g.4860009C>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala37Thr	rs1276975452	missense variant	-	NC_000004.12:g.4860008G>A	gnomAD
MSX1	P28360	p.Thr39Met	rs1016654970	missense variant	-	NC_000004.12:g.4860015C>T	TOPMed
MSX1	P28360	p.Ala40Thr	rs567075790	missense variant	-	NC_000004.12:g.4860017G>A	1000Genomes,gnomAD
MSX1	P28360	p.Ala40Gly	rs36059701	missense variant	-	NC_000004.12:g.4860018C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala41Thr	rs1179469740	missense variant	-	NC_000004.12:g.4860020G>A	gnomAD
MSX1	P28360	p.Met43Leu	RCV000529113	missense variant	Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)	NC_000004.12:g.4860026A>C	ClinVar
MSX1	P28360	p.Met43Leu	rs565664559	missense variant	-	NC_000004.12:g.4860026A>C	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Met43Ile	rs1422809378	missense variant	-	NC_000004.12:g.4860028G>A	gnomAD
MSX1	P28360	p.Met43Thr	rs1158644438	missense variant	-	NC_000004.12:g.4860027T>C	TOPMed
MSX1	P28360	p.Ala45Glu	rs761553379	missense variant	-	NC_000004.12:g.4860033C>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala45Thr	rs1308395755	missense variant	-	NC_000004.12:g.4860032G>A	gnomAD
MSX1	P28360	p.Glu48Gly	rs1305088382	missense variant	-	NC_000004.12:g.4860042A>G	gnomAD
MSX1	P28360	p.Gly49Arg	rs1331701440	missense variant	-	NC_000004.12:g.4860044G>A	TOPMed,gnomAD
MSX1	P28360	p.Ala50GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.4860042_4860043insG	NCI-TCGA
MSX1	P28360	p.Lys51Thr	rs960310824	missense variant	-	NC_000004.12:g.4860051A>C	TOPMed
MSX1	P28360	p.Lys51Glu	rs994158401	missense variant	-	NC_000004.12:g.4860050A>G	TOPMed,gnomAD
MSX1	P28360	p.Lys53Glu	rs1048451887	missense variant	-	NC_000004.12:g.4860056A>G	gnomAD
MSX1	P28360	p.Lys53Gln	rs1048451887	missense variant	-	NC_000004.12:g.4860056A>C	gnomAD
MSX1	P28360	p.Ser55Phe	rs1341926891	missense variant	-	NC_000004.12:g.4860063C>T	gnomAD
MSX1	P28360	p.Ser57Ter	rs1229676200	stop gained	-	NC_000004.12:g.4860069C>A	gnomAD
MSX1	P28360	p.Leu59Gln	rs1274360141	missense variant	-	NC_000004.12:g.4860075T>A	gnomAD
MSX1	P28360	p.Pro60Leu	rs1482382463	missense variant	-	NC_000004.12:g.4860078C>T	gnomAD
MSX1	P28360	p.Phe61Val	rs1265724633	missense variant	-	NC_000004.12:g.4860080T>G	TOPMed
MSX1	P28360	p.Ser62Arg	rs1225310033	missense variant	-	NC_000004.12:g.4860085C>A	gnomAD
MSX1	P28360	p.Val63Leu	rs1268885452	missense variant	-	NC_000004.12:g.4860086G>T	gnomAD
MSX1	P28360	p.Glu64Gly	rs1451616951	missense variant	-	NC_000004.12:g.4860090A>G	gnomAD
MSX1	P28360	p.Ala65Glu	rs1207652549	missense variant	-	NC_000004.12:g.4860093C>A	TOPMed
MSX1	P28360	p.Ala65Thr	rs1197745096	missense variant	-	NC_000004.12:g.4860092G>A	gnomAD
MSX1	P28360	p.Leu66Ile	rs1450940679	missense variant	-	NC_000004.12:g.4860095C>A	TOPMed,gnomAD
MSX1	P28360	p.Met67Lys	RCV000016015	missense variant	Selective tooth agenesis 1 (STHAG1)	NC_000004.12:g.4860099T>A	ClinVar
MSX1	P28360	p.Met67Ile	rs1427761384	missense variant	-	NC_000004.12:g.4860100G>T	gnomAD
MSX1	P28360	p.Met67Lys	rs121913130	missense variant	-	NC_000004.12:g.4860099T>A	gnomAD
MSX1	P28360	p.Met67Lys	rs121913130	missense variant	Tooth agenesis, selective, 1 (STHAG1)	NC_000004.12:g.4860099T>A	UniProt,dbSNP
MSX1	P28360	p.Met67Lys	VAR_015712	missense variant	Tooth agenesis, selective, 1 (STHAG1)	NC_000004.12:g.4860099T>A	UniProt
MSX1	P28360	p.Met67Thr	rs121913130	missense variant	-	NC_000004.12:g.4860099T>C	gnomAD
MSX1	P28360	p.Ala68Gly	rs1165348573	missense variant	-	NC_000004.12:g.4860102C>G	gnomAD
MSX1	P28360	p.Asp69Glu	rs1372768199	missense variant	-	NC_000004.12:g.4860106C>A	gnomAD
MSX1	P28360	p.Pro73Leu	rs201156596	missense variant	-	NC_000004.12:g.4860117C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala75Pro	rs537984383	missense variant	-	NC_000004.12:g.4860122G>C	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala75Thr	rs537984383	missense variant	-	NC_000004.12:g.4860122G>A	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Glu77Asp	rs1328486263	missense variant	-	NC_000004.12:g.4860130G>C	TOPMed,gnomAD
MSX1	P28360	p.Ala79ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.4860132_4860156GCGCCCTGGCGCCCTCCGAGGGCGT>-	NCI-TCGA
MSX1	P28360	p.Ala79Val	rs967551252	missense variant	-	NC_000004.12:g.4860135C>T	TOPMed
MSX1	P28360	p.Ala81Val	rs964861174	missense variant	-	NC_000004.12:g.4860141C>T	TOPMed,gnomAD
MSX1	P28360	p.Ala81Glu	rs964861174	missense variant	-	NC_000004.12:g.4860141C>A	TOPMed,gnomAD
MSX1	P28360	p.Pro82Leu	rs1248813501	missense variant	-	NC_000004.12:g.4860144C>T	gnomAD
MSX1	P28360	p.Glu84Val	RCV000016012	missense variant	Orofacial cleft 5 (OFC5)	NC_000004.12:g.4860150A>T	ClinVar
MSX1	P28360	p.Glu84Gly	rs28928890	missense variant	Orofacial cleft 5 (ofc5)	NC_000004.12:g.4860150A>G	TOPMed,gnomAD
MSX1	P28360	p.Glu84Gln	rs1464389153	missense variant	-	NC_000004.12:g.4860149G>C	TOPMed
MSX1	P28360	p.Glu84Val	rs28928890	missense variant	Non-syndromic orofacial cleft 5 (OFC5)	NC_000004.12:g.4860150A>T	UniProt,dbSNP
MSX1	P28360	p.Glu84Val	VAR_018391	missense variant	Non-syndromic orofacial cleft 5 (OFC5)	NC_000004.12:g.4860150A>T	UniProt
MSX1	P28360	p.Glu84Val	rs28928890	missense variant	Orofacial cleft 5 (ofc5)	NC_000004.12:g.4860150A>T	TOPMed,gnomAD
MSX1	P28360	p.Gly85Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4860152G>A	NCI-TCGA
MSX1	P28360	p.Val86Leu	rs997321662	missense variant	-	NC_000004.12:g.4860155G>C	TOPMed,gnomAD
MSX1	P28360	p.Val86Met	rs997321662	missense variant	-	NC_000004.12:g.4860155G>A	TOPMed,gnomAD
MSX1	P28360	p.Gln87Arg	rs759475915	missense variant	-	NC_000004.12:g.4860159A>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala88Gly	rs1318544738	missense variant	-	NC_000004.12:g.4860162C>G	TOPMed,gnomAD
MSX1	P28360	p.Ala88Glu	rs1318544738	missense variant	-	NC_000004.12:g.4860162C>A	TOPMed,gnomAD
MSX1	P28360	p.Gly90Ser	rs1030007862	missense variant	-	NC_000004.12:g.4860167G>A	TOPMed,gnomAD
MSX1	P28360	p.Ser92Leu	rs1369045142	missense variant	-	NC_000004.12:g.4860174C>T	TOPMed,gnomAD
MSX1	P28360	p.Pro95Leu	rs1161574243	missense variant	-	NC_000004.12:g.4860183C>T	gnomAD
MSX1	P28360	p.Leu96Arg	rs758616631	missense variant	-	NC_000004.12:g.4860186T>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Leu96Met	rs975425740	missense variant	-	NC_000004.12:g.4860185C>A	TOPMed,gnomAD
MSX1	P28360	p.Gly97Val	rs1275816812	missense variant	-	NC_000004.12:g.4860189G>T	TOPMed
MSX1	P28360	p.Gly97Asp	VAR_018392	Missense	Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]	-	UniProt
MSX1	P28360	p.Gly101Ala	rs933932046	missense variant	-	NC_000004.12:g.4860201G>C	TOPMed,gnomAD
MSX1	P28360	p.Ser102Leu	rs781615134	missense variant	-	NC_000004.12:g.4860204C>T	ExAC,gnomAD
MSX1	P28360	p.Gly104Arg	rs768005654	missense variant	-	NC_000004.12:g.4860209G>C	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly104Glu	rs1304998337	missense variant	-	NC_000004.12:g.4860210G>A	gnomAD
MSX1	P28360	p.Ala105Asp	rs778451461	missense variant	-	NC_000004.12:g.4860213C>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro106Ser	rs747656115	missense variant	-	NC_000004.12:g.4860215C>T	ExAC,gnomAD
MSX1	P28360	p.Asp107Asn	rs927588357	missense variant	-	NC_000004.12:g.4860218G>A	gnomAD
MSX1	P28360	p.Ala108Thr	rs771740327	missense variant	-	NC_000004.12:g.4860221G>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro109His	rs1487038870	missense variant	-	NC_000004.12:g.4860225C>A	TOPMed,gnomAD
MSX1	P28360	p.Ser110Pro	rs866357914	missense variant	-	NC_000004.12:g.4860227T>C	gnomAD
MSX1	P28360	p.Ser110Phe	rs760478775	missense variant	-	NC_000004.12:g.4860228C>T	ExAC,gnomAD
MSX1	P28360	p.Ser110Ala	rs866357914	missense variant	-	NC_000004.12:g.4860227T>G	gnomAD
MSX1	P28360	p.Ser111Pro	rs770861750	missense variant	-	NC_000004.12:g.4860230T>C	ExAC,gnomAD
MSX1	P28360	p.Ser111Ter	rs104893852	stop gained	-	NC_000004.12:g.4860231C>A	-
MSX1	P28360	p.Ser111Ter	RCV000016009	nonsense	Selective tooth agenesis 1 (STHAG1)	NC_000004.12:g.4860231C>A	ClinVar
MSX1	P28360	p.Arg113Trp	rs1158505442	missense variant	-	NC_000004.12:g.4860236C>T	gnomAD
MSX1	P28360	p.His117Arg	rs930081770	missense variant	-	NC_000004.12:g.4860249A>G	TOPMed,gnomAD
MSX1	P28360	p.His117Tyr	rs1207807140	missense variant	-	NC_000004.12:g.4860248C>T	TOPMed
MSX1	P28360	p.His117Leu	rs930081770	missense variant	-	NC_000004.12:g.4860249A>T	TOPMed,gnomAD
MSX1	P28360	p.Ser119Leu	rs1351809242	missense variant	-	NC_000004.12:g.4860255C>T	gnomAD
MSX1	P28360	p.Val120Gly	rs759548721	missense variant	-	NC_000004.12:g.4860258T>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Val120Gly	rs759548721	missense variant	Non-syndromic orofacial cleft 5 (OFC5)	NC_000004.12:g.4860258T>G	UniProt,dbSNP
MSX1	P28360	p.Val120Gly	VAR_018393	missense variant	Non-syndromic orofacial cleft 5 (OFC5)	NC_000004.12:g.4860258T>G	UniProt
MSX1	P28360	p.Gly121Trp	rs765128034	missense variant	-	NC_000004.12:g.4860260G>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly122Glu	RCV000016013	missense variant	Orofacial cleft 5 (OFC5)	NC_000004.12:g.4860264G>A	ClinVar
MSX1	P28360	p.Gly122Glu	rs28933081	missense variant	Non-syndromic orofacial cleft 5 (OFC5)	NC_000004.12:g.4860264G>A	UniProt,dbSNP
MSX1	P28360	p.Gly122Glu	VAR_018394	missense variant	Non-syndromic orofacial cleft 5 (OFC5)	NC_000004.12:g.4860264G>A	UniProt
MSX1	P28360	p.Gly122Glu	rs28933081	missense variant	Orofacial cleft 5 (ofc5)	NC_000004.12:g.4860264G>A	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly122Arg	rs775617431	missense variant	-	NC_000004.12:g.4860263G>A	ExAC,gnomAD
MSX1	P28360	p.Gly122Val	rs28933081	missense variant	Orofacial cleft 5 (ofc5)	NC_000004.12:g.4860264G>T	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly122Val	RCV000560292	missense variant	Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)	NC_000004.12:g.4860264G>T	ClinVar
MSX1	P28360	p.Leu124His	rs764296833	missense variant	-	NC_000004.12:g.4860270T>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Leu126Gln	rs576748377	missense variant	-	NC_000004.12:g.4860276T>A	ExAC,gnomAD
MSX1	P28360	p.Pro127Thr	rs750858899	missense variant	-	NC_000004.12:g.4860278C>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Asp129Asn	rs1435154475	missense variant	-	NC_000004.12:g.4860284G>A	gnomAD
MSX1	P28360	p.Ala130Thr	rs1177012243	missense variant	-	NC_000004.12:g.4860287G>A	gnomAD
MSX1	P28360	p.Leu131Phe	rs747687057	missense variant	-	NC_000004.12:g.4860290C>T	ExAC,gnomAD
MSX1	P28360	p.Val132Leu	rs1371782876	missense variant	-	NC_000004.12:g.4860293G>C	gnomAD
MSX1	P28360	p.Ala134Ser	rs1392177805	missense variant	-	NC_000004.12:g.4860299G>T	TOPMed
MSX1	P28360	p.Glu135Asp	rs1370476101	missense variant	-	NC_000004.12:g.4860304G>C	TOPMed,gnomAD
MSX1	P28360	p.Glu135Lys	rs770808822	missense variant	-	NC_000004.12:g.4860302G>A	ExAC,gnomAD
MSX1	P28360	p.Ser136Arg	rs1301468375	missense variant	-	NC_000004.12:g.4860307C>A	gnomAD
MSX1	P28360	p.Ser136Gly	rs1220626727	missense variant	-	NC_000004.12:g.4860305A>G	gnomAD
MSX1	P28360	p.Glu138Gln	rs1412315816	missense variant	-	NC_000004.12:g.4860311G>C	TOPMed
MSX1	P28360	p.Pro140Ser	rs745700109	missense variant	-	NC_000004.12:g.4860317C>T	ExAC,gnomAD
MSX1	P28360	p.Glu141Ala	rs1342849180	missense variant	-	NC_000004.12:g.4860321A>C	gnomAD
MSX1	P28360	p.Arg142Met	rs769759615	missense variant	-	NC_000004.12:g.4860324G>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Arg142Ser	rs1249758312	missense variant	-	NC_000004.12:g.4860325G>T	gnomAD
MSX1	P28360	p.Arg142Lys	rs769759615	missense variant	-	NC_000004.12:g.4860324G>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Thr143Ser	rs369625915	missense variant	-	NC_000004.12:g.4860326A>T	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro144Leu	rs764174177	missense variant	-	NC_000004.12:g.4860330C>T	ExAC,gnomAD
MSX1	P28360	p.Met146Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4860335A>G	NCI-TCGA
MSX1	P28360	p.Met146Ile	rs774512352	missense variant	-	NC_000004.12:g.4860337G>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Met146Thr	rs1431648315	missense variant	-	NC_000004.12:g.4860336T>C	TOPMed,gnomAD
MSX1	P28360	p.Met146Arg	rs1431648315	missense variant	-	NC_000004.12:g.4860336T>G	TOPMed,gnomAD
MSX1	P28360	p.Met146Ile	rs774512352	missense variant	-	NC_000004.12:g.4860337G>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gln147His	rs767772329	missense variant	-	NC_000004.12:g.4860340G>C	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ser148Ile	rs756500556	missense variant	-	NC_000004.12:g.4860342G>T	ExAC,gnomAD
MSX1	P28360	p.Ser148Arg	rs766839374	missense variant	-	NC_000004.12:g.4860343C>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ser148Asn	rs756500556	missense variant	-	NC_000004.12:g.4860342G>A	ExAC,gnomAD
MSX1	P28360	p.Pro149Leu	rs1352277615	missense variant	-	NC_000004.12:g.4860345C>T	gnomAD
MSX1	P28360	p.Arg150Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4860347C>T	NCI-TCGA
MSX1	P28360	p.Ser152Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4860354C>G	NCI-TCGA
MSX1	P28360	p.Pro153Arg	rs104893854	missense variant	Orofacial cleft 5 (ofc5)	NC_000004.12:g.4860357C>G	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro153Gln	rs104893854	missense variant	Orofacial cleft 5 (ofc5)	NC_000004.12:g.4860357C>A	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro153Leu	rs104893854	missense variant	Orofacial cleft 5 (ofc5)	NC_000004.12:g.4860357C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro153Gln	RCV000016014	missense variant	Orofacial cleft 5 (OFC5)	NC_000004.12:g.4860357C>A	ClinVar
MSX1	P28360	p.Pro154Arg	rs545651715	missense variant	-	NC_000004.12:g.4860360C>G	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro154Leu	rs545651715	missense variant	-	NC_000004.12:g.4860360C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro154Ala	rs780766124	missense variant	-	NC_000004.12:g.4860359C>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro154Ser	rs780766124	missense variant	-	NC_000004.12:g.4860359C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro155Leu	rs1437103928	missense variant	-	NC_000004.12:g.4860363C>T	TOPMed
MSX1	P28360	p.Ala156Asp	rs1222485244	missense variant	-	NC_000004.12:g.4860366C>A	gnomAD
MSX1	P28360	p.Ala156Ser	rs1323415097	missense variant	-	NC_000004.12:g.4860365G>T	TOPMed,gnomAD
MSX1	P28360	p.Arg157Ser	rs150284621	missense variant	Non-syndromic orofacial cleft 5 (OFC5)	NC_000004.12:g.4862702G>T	UniProt,dbSNP
MSX1	P28360	p.Arg157Ser	VAR_018395	missense variant	Non-syndromic orofacial cleft 5 (OFC5)	NC_000004.12:g.4862702G>T	UniProt
MSX1	P28360	p.Arg157Ser	rs150284621	missense variant	-	NC_000004.12:g.4862702G>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Arg157Ser	RCV000490415	missense variant	Orofacial cleft 5 (OFC5)	NC_000004.12:g.4862702G>T	ClinVar
MSX1	P28360	p.Arg157Trp	rs1264902390	missense variant	-	NC_000004.12:g.4860368A>T	TOPMed,gnomAD
MSX1	P28360	p.Arg158Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4862704G>T	NCI-TCGA
MSX1	P28360	p.Arg158Trp	rs781507762	missense variant	-	NC_000004.12:g.4862703C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Arg158Gln	rs746116954	missense variant	-	NC_000004.12:g.4862704G>A	ExAC,gnomAD
MSX1	P28360	p.Ser160Asn	COSM3825940	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862710G>A	NCI-TCGA Cosmic
MSX1	P28360	p.Pro161Leu	rs1398311504	missense variant	-	NC_000004.12:g.4862713C>T	gnomAD
MSX1	P28360	p.Pro162Ala	rs770246625	missense variant	-	NC_000004.12:g.4862715C>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro162Leu	rs1374050033	missense variant	-	NC_000004.12:g.4862716C>T	TOPMed
MSX1	P28360	p.Pro162GlnPheSerTerUnkUnk	rs762477502	frameshift	-	NC_000004.12:g.4862711C>-	NCI-TCGA,NCI-TCGA Cosmic
MSX1	P28360	p.Pro162Thr	rs770246625	missense variant	-	NC_000004.12:g.4862715C>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala163Ser	rs528951725	missense variant	-	NC_000004.12:g.4862718G>T	1000Genomes,ExAC,gnomAD
MSX1	P28360	p.His169Tyr	rs1032988132	missense variant	-	NC_000004.12:g.4862736C>T	gnomAD
MSX1	P28360	p.Lys170Arg	rs1023858128	missense variant	-	NC_000004.12:g.4862740A>G	TOPMed,gnomAD
MSX1	P28360	p.Lys170Glu	rs765893159	missense variant	-	NC_000004.12:g.4862739A>G	ExAC,gnomAD
MSX1	P28360	p.Thr171Met	rs776223079	missense variant	-	NC_000004.12:g.4862743C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Thr171Lys	rs776223079	missense variant	-	NC_000004.12:g.4862743C>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Asn172Lys	rs1256847116	missense variant	-	NC_000004.12:g.4862747C>A	gnomAD
MSX1	P28360	p.Arg173His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4862749G>A	NCI-TCGA
MSX1	P28360	p.Arg173Cys	rs1485301859	missense variant	-	NC_000004.12:g.4862748C>T	TOPMed,gnomAD
MSX1	P28360	p.Arg173Pro	rs569734431	missense variant	-	NC_000004.12:g.4862749G>C	gnomAD
MSX1	P28360	p.Arg176Gln	COSM3825941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862758G>A	NCI-TCGA Cosmic
MSX1	P28360	p.Thr177Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4862760A>G	NCI-TCGA
MSX1	P28360	p.Phe179Cys	COSM119835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862767T>G	NCI-TCGA Cosmic
MSX1	P28360	p.Thr180Asn	rs1417006531	missense variant	-	NC_000004.12:g.4862770C>A	gnomAD
MSX1	P28360	p.Ala182Thr	rs549162057	missense variant	-	NC_000004.12:g.4862775G>A	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala182Ser	rs549162057	missense variant	-	NC_000004.12:g.4862775G>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala182Val	rs370243708	missense variant	-	NC_000004.12:g.4862776C>T	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Leu185Pro	rs781456258	missense variant	-	NC_000004.12:g.4862785T>C	ExAC,gnomAD
MSX1	P28360	p.Arg189Leu	rs756385553	missense variant	-	NC_000004.12:g.4862797G>T	ExAC
MSX1	P28360	p.Arg189Gly	rs1391615384	missense variant	-	NC_000004.12:g.4862796C>G	gnomAD
MSX1	P28360	p.Arg189His	COSM4846336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862797G>A	NCI-TCGA Cosmic
MSX1	P28360	p.Arg192His	rs760914206	missense variant	-	NC_000004.12:g.4862806G>A	TOPMed
MSX1	P28360	p.Arg192Cys	COSM3974930	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862805C>T	NCI-TCGA Cosmic
MSX1	P28360	p.Gln193His	rs1235225331	missense variant	-	NC_000004.12:g.4862810G>T	gnomAD
MSX1	P28360	p.Gln193Ter	rs104893850	stop gained	-	NC_000004.12:g.4862808C>T	-
MSX1	P28360	p.Gln193Lys	COSM6100355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862808C>A	NCI-TCGA Cosmic
MSX1	P28360	p.Gln193His	rs1235225331	missense variant	-	NC_000004.12:g.4862810G>C	gnomAD
MSX1	P28360	p.Gln193Ter	RCV000016010	nonsense	Selective tooth agenesis 1 (STHAG1)	NC_000004.12:g.4862808C>T	ClinVar
MSX1	P28360	p.Lys194Arg	rs149092063	missense variant	-	NC_000004.12:g.4862812A>G	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Leu197Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4862820C>A	NCI-TCGA
MSX1	P28360	p.Ile199Val	rs1254077152	missense variant	-	NC_000004.12:g.4862826A>G	gnomAD
MSX1	P28360	p.Ala200Asp	COSM3604315	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862830C>A	NCI-TCGA Cosmic
MSX1	P28360	p.Ala200Val	rs1346748006	missense variant	-	NC_000004.12:g.4862830C>T	TOPMed
MSX1	P28360	p.Arg202Pro	RCV000016008	missense variant	Selective tooth agenesis 1 (STHAG1)	NC_000004.12:g.4862836G>C	ClinVar
MSX1	P28360	p.Arg202Gly	rs551697430	missense variant	-	NC_000004.12:g.4862835C>G	1000Genomes,ExAC,gnomAD
MSX1	P28360	p.Arg202Pro	rs121913129	missense variant	-	NC_000004.12:g.4862836G>C	-
MSX1	P28360	p.Arg202Pro	rs121913129	missense variant	Tooth agenesis, selective, 1 (STHAG1)	NC_000004.12:g.4862836G>C	UniProt,dbSNP
MSX1	P28360	p.Arg202Pro	VAR_003754	missense variant	Tooth agenesis, selective, 1 (STHAG1)	NC_000004.12:g.4862836G>C	UniProt
MSX1	P28360	p.Ala203Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4862838G>A	NCI-TCGA
MSX1	P28360	p.Ala203Ser	rs776095213	missense variant	-	NC_000004.12:g.4862838G>T	ExAC,gnomAD
MSX1	P28360	p.Glu204Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.4862841G>T	NCI-TCGA
MSX1	P28360	p.Phe205Leu	rs759104204	missense variant	-	NC_000004.12:g.4862844T>C	ExAC,gnomAD
MSX1	P28360	p.Ser206Cys	rs775213895	missense variant	-	NC_000004.12:g.4862848C>G	ExAC
MSX1	P28360	p.Ser208Leu	COSM1055858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862854C>T	NCI-TCGA Cosmic
MSX1	P28360	p.Ser208Trp	rs104893853	missense variant	-	NC_000004.12:g.4862854C>G	ExAC,gnomAD
MSX1	P28360	p.Ser208Ter	rs104893853	stop gained	-	NC_000004.12:g.4862854C>A	ExAC,gnomAD
MSX1	P28360	p.Ser208Ter	RCV000016011	nonsense	Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)	NC_000004.12:g.4862854C>A	ClinVar
MSX1	P28360	p.Ser210Asn	rs143068777	missense variant	-	NC_000004.12:g.4862860G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Thr212Ser	rs919065116	missense variant	-	NC_000004.12:g.4862865A>T	TOPMed
MSX1	P28360	p.Thr214Met	rs756333968	missense variant	-	NC_000004.12:g.4862872C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gln215Arg	rs1303920433	missense variant	-	NC_000004.12:g.4862875A>G	gnomAD
MSX1	P28360	p.Val216Glu	rs1369887581	missense variant	-	NC_000004.12:g.4862878T>A	gnomAD
MSX1	P28360	p.Ile218Lys	COSM1055859	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862884T>A	NCI-TCGA Cosmic
MSX1	P28360	p.Gln221Ter	RCV000544581	nonsense	Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)	NC_000004.12:g.4862892C>T	ClinVar
MSX1	P28360	p.Gln221Ter	rs1553878162	stop gained	-	NC_000004.12:g.4862892C>T	-
MSX1	P28360	p.Asn222Thr	rs1232010260	missense variant	-	NC_000004.12:g.4862896A>C	gnomAD
MSX1	P28360	p.Arg224His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4862902G>A	NCI-TCGA
MSX1	P28360	p.Arg224Cys	rs1342784720	missense variant	-	NC_000004.12:g.4862901C>T	gnomAD
MSX1	P28360	p.Ala225Val	rs755255042	missense variant	-	NC_000004.12:g.4862905C>T	ExAC,gnomAD
MSX1	P28360	p.Ala225Pro	rs754108948	missense variant	-	NC_000004.12:g.4862904G>C	ExAC,gnomAD
MSX1	P28360	p.Ala227Pro	rs1172241272	missense variant	-	NC_000004.12:g.4862910G>C	TOPMed
MSX1	P28360	p.Glu232Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4862925G>A	NCI-TCGA
MSX1	P28360	p.Glu234SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.4862931G>-	NCI-TCGA
MSX1	P28360	p.Leu238Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4862944T>C	NCI-TCGA
MSX1	P28360	p.Lys239Arg	rs745317876	missense variant	-	NC_000004.12:g.4862947A>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Lys239Asn	COSM420575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862948G>C	NCI-TCGA Cosmic
MSX1	P28360	p.Ala241Asp	COSM3696669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4862953C>A	NCI-TCGA Cosmic
MSX1	P28360	p.Ala242Thr	rs902284125	missense variant	-	NC_000004.12:g.4862955G>A	gnomAD
MSX1	P28360	p.Ala242Ser	rs902284125	missense variant	-	NC_000004.12:g.4862955G>T	gnomAD
MSX1	P28360	p.Pro244Ser	rs1352210643	missense variant	-	NC_000004.12:g.4862961C>T	gnomAD
MSX1	P28360	p.Met245Lys	rs201781025	missense variant	-	NC_000004.12:g.4862965T>A	1000Genomes,ExAC,gnomAD
MSX1	P28360	p.Met245Thr	rs201781025	missense variant	-	NC_000004.12:g.4862965T>C	1000Genomes,ExAC,gnomAD
MSX1	P28360	p.Leu246ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.4862965_4862977TGCTGCCACCGGC>-	NCI-TCGA
MSX1	P28360	p.Leu246Arg	rs762705708	missense variant	-	NC_000004.12:g.4862968T>G	ExAC
MSX1	P28360	p.Pro247Ser	rs761710147	missense variant	-	NC_000004.12:g.4862970C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro248Leu	rs1313821191	missense variant	-	NC_000004.12:g.4862974C>T	TOPMed,gnomAD
MSX1	P28360	p.Ala249Thr	rs1210922456	missense variant	-	NC_000004.12:g.4862976G>A	TOPMed
MSX1	P28360	p.Ala250Thr	rs1213873487	missense variant	-	NC_000004.12:g.4862979G>A	gnomAD
MSX1	P28360	p.Phe251Ter	RCV000556981	nonsense	Hypoplastic enamel-onycholysis-hypohidrosis syndrome (TNS)	NC_000004.12:g.4862983_4862984delinsAA	ClinVar
MSX1	P28360	p.Phe251Ter	rs1553878166	stop gained	-	NC_000004.12:g.4862983_4862984delinsAA	-
MSX1	P28360	p.Gly252Arg	rs140231550	missense variant	-	NC_000004.12:g.4862985G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly252Ser	rs140231550	missense variant	-	NC_000004.12:g.4862985G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly252Cys	rs140231550	missense variant	-	NC_000004.12:g.4862985G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly252Ala	rs1218292784	missense variant	-	NC_000004.12:g.4862986G>C	TOPMed
MSX1	P28360	p.Leu253Pro	rs1340481655	missense variant	-	NC_000004.12:g.4862989T>C	TOPMed
MSX1	P28360	p.Pro256Arg	rs1467307012	missense variant	-	NC_000004.12:g.4862998C>G	gnomAD
MSX1	P28360	p.Pro256Ser	rs753897888	missense variant	-	NC_000004.12:g.4862997C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro256Ala	rs753897888	missense variant	-	NC_000004.12:g.4862997C>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Leu257Phe	rs1211011383	missense variant	-	NC_000004.12:g.4863000C>T	gnomAD
MSX1	P28360	p.Gly259Ser	rs1185222483	missense variant	-	NC_000004.12:g.4863006G>A	TOPMed,gnomAD
MSX1	P28360	p.Gly259Cys	rs1185222483	missense variant	-	NC_000004.12:g.4863006G>T	TOPMed,gnomAD
MSX1	P28360	p.Pro260Ser	rs535538923	missense variant	-	NC_000004.12:g.4863009C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro260Thr	rs535538923	missense variant	-	NC_000004.12:g.4863009C>A	1000Genomes,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala261Gly	rs1459531026	missense variant	-	NC_000004.12:g.4863013C>G	TOPMed,gnomAD
MSX1	P28360	p.Ala261Thr	rs1023910105	missense variant	-	NC_000004.12:g.4863012G>A	gnomAD
MSX1	P28360	p.Ala262Gly	rs1322330821	missense variant	-	NC_000004.12:g.4863016C>G	gnomAD
MSX1	P28360	p.Val263Ile	rs747563297	missense variant	-	NC_000004.12:g.4863018G>A	ExAC,gnomAD
MSX1	P28360	p.Ala264Val	rs1429940476	missense variant	-	NC_000004.12:g.4863022C>T	TOPMed,gnomAD
MSX1	P28360	p.Ala266Thr	rs376516578	missense variant	-	NC_000004.12:g.4863027G>A	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala266Val	rs371178224	missense variant	-	NC_000004.12:g.4863028C>T	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala266Ser	rs376516578	missense variant	-	NC_000004.12:g.4863027G>T	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala266Glu	rs371178224	missense variant	-	NC_000004.12:g.4863028C>A	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala267Val	rs747948603	missense variant	-	NC_000004.12:g.4863031C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly268Ser	COSM3604316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4863033G>A	NCI-TCGA Cosmic
MSX1	P28360	p.Gly268Asp	rs1295509625	missense variant	-	NC_000004.12:g.4863034G>A	gnomAD
MSX1	P28360	p.Ala269Thr	rs760652663	missense variant	-	NC_000004.12:g.4863036G>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ser270Pro	rs766251853	missense variant	-	NC_000004.12:g.4863039T>C	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ser270Thr	rs766251853	missense variant	-	NC_000004.12:g.4863039T>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ser270Leu	COSM3696670	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4863040C>T	NCI-TCGA Cosmic
MSX1	P28360	p.Ser270Trp	rs1239790825	missense variant	-	NC_000004.12:g.4863040C>G	gnomAD
MSX1	P28360	p.Tyr272His	rs1188111757	missense variant	-	NC_000004.12:g.4863045T>C	gnomAD
MSX1	P28360	p.Tyr272Ter	COSM6100354	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.4863047C>A	NCI-TCGA Cosmic
MSX1	P28360	p.Tyr272Cys	rs1377042881	missense variant	-	NC_000004.12:g.4863046A>G	TOPMed
MSX1	P28360	p.Tyr272Ter	rs375828884	stop gained	-	NC_000004.12:g.4863047C>G	ESP,TOPMed,gnomAD
MSX1	P28360	p.Gly273Arg	rs184700656	missense variant	-	NC_000004.12:g.4863048G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly273Cys	rs184700656	missense variant	-	NC_000004.12:g.4863048G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Gly273Ser	rs184700656	missense variant	-	NC_000004.12:g.4863048G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala274Val	rs62636562	missense variant	-	NC_000004.12:g.4863052C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala274Thr	rs752974918	missense variant	-	NC_000004.12:g.4863051G>A	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ala274Ser	rs752974918	missense variant	-	NC_000004.12:g.4863051G>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Ser275Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4863055C>A	NCI-TCGA
MSX1	P28360	p.Pro277His	rs367573135	missense variant	-	NC_000004.12:g.4863061C>A	ESP,ExAC,TOPMed,gnomAD
MSX1	P28360	p.Pro277Leu	COSM3604317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4863061C>T	NCI-TCGA Cosmic
MSX1	P28360	p.Phe278Ser	rs1360864388	missense variant	-	NC_000004.12:g.4863064T>C	gnomAD
MSX1	P28360	p.Arg280Cys	rs1312374869	missense variant	-	NC_000004.12:g.4863069C>T	gnomAD
MSX1	P28360	p.Ala281Thr	COSM6100353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4863072G>A	NCI-TCGA Cosmic
MSX1	P28360	p.Ala282Thr	rs1280418300	missense variant	-	NC_000004.12:g.4863075G>A	gnomAD
MSX1	P28360	p.Leu283Val	rs1222467199	missense variant	-	NC_000004.12:g.4863078C>G	TOPMed,gnomAD
MSX1	P28360	p.Pro284Ser	rs771885867	missense variant	-	NC_000004.12:g.4863081C>T	ExAC,TOPMed,gnomAD
MSX1	P28360	p.Val285Leu	rs1210750959	missense variant	-	NC_000004.12:g.4863084G>T	gnomAD
MSX1	P28360	p.Val285Met	rs1210750959	missense variant	-	NC_000004.12:g.4863084G>A	gnomAD
MSX1	P28360	p.Ala286Val	rs1425150458	missense variant	-	NC_000004.12:g.4863088C>T	TOPMed,gnomAD
MSX1	P28360	p.Pro287Thr	rs1279003369	missense variant	-	NC_000004.12:g.4863090C>A	gnomAD
MSX1	P28360	p.Val288Met	rs1183331676	missense variant	-	NC_000004.12:g.4863093G>A	gnomAD
MSX1	P28360	p.Val288Leu	rs1183331676	missense variant	-	NC_000004.12:g.4863093G>C	gnomAD
MSX1	P28360	p.Gly289Glu	rs1233165001	missense variant	-	NC_000004.12:g.4863097G>A	TOPMed,gnomAD
MSX1	P28360	p.Gly289Val	rs1233165001	missense variant	-	NC_000004.12:g.4863097G>T	TOPMed,gnomAD
MSX1	P28360	p.Leu290Ile	rs1469278626	missense variant	-	NC_000004.12:g.4863099C>A	gnomAD
MSX1	P28360	p.Tyr291His	rs1426946585	missense variant	-	NC_000004.12:g.4863102T>C	gnomAD
MSX1	P28360	p.Thr292Met	rs1446398363	missense variant	-	NC_000004.12:g.4863106C>T	TOPMed
MSX1	P28360	p.Thr292Ala	rs1435298307	missense variant	-	NC_000004.12:g.4863105A>G	TOPMed,gnomAD
MSX1	P28360	p.Ala293Thr	rs1373544643	missense variant	-	NC_000004.12:g.4863108G>A	gnomAD
MSX1	P28360	p.Gly296Asp	rs1335451480	missense variant	-	NC_000004.12:g.4863118G>A	gnomAD
MSX1	P28360	p.Tyr297His	rs1440233845	missense variant	-	NC_000004.12:g.4863120T>C	gnomAD
MSX1	P28360	p.Ser298Ile	rs1277008553	missense variant	-	NC_000004.12:g.4863124G>T	gnomAD
MSX1	P28360	p.Ser298Asn	COSM4125003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4863124G>A	NCI-TCGA Cosmic
MSX1	P28360	p.Met299Ile	rs1372103566	missense variant	-	NC_000004.12:g.4863128G>C	gnomAD
MSX1	P28360	p.Tyr300Cys	rs770836856	missense variant	-	NC_000004.12:g.4863130A>G	ExAC,TOPMed,gnomAD
MSX1	P28360	p.His301Arg	rs776499548	missense variant	-	NC_000004.12:g.4863133A>G	ExAC,gnomAD
MSX1	P28360	p.Leu302Met	rs759648978	missense variant	-	NC_000004.12:g.4863135C>A	ExAC,gnomAD
MSX1	P28360	p.Thr303Ala	rs1348000016	missense variant	-	NC_000004.12:g.4863138A>G	TOPMed
MSX1	P28360	p.Ter304Tyr	RCV000157079	stop lost	Selective tooth agenesis 1 (STHAG1)	NC_000004.12:g.4863141_4863142dup	ClinVar
GABRB3	P28472	p.Gly3Asp	rs753024924	missense variant	-	NC_000015.10:g.26772955C>T	ExAC,gnomAD
GABRB3	P28472	p.Leu4Phe	rs1333693263	missense variant	-	NC_000015.10:g.26772953G>A	gnomAD
GABRB3	P28472	p.Ala5Glu	rs1315237922	missense variant	-	NC_000015.10:g.26772949G>T	gnomAD
GABRB3	P28472	p.Ala5Val	rs1315237922	missense variant	-	NC_000015.10:g.26772949G>A	gnomAD
GABRB3	P28472	p.Gly6Ala	rs765680963	missense variant	-	NC_000015.10:g.26772946C>G	ExAC,gnomAD
GABRB3	P28472	p.Gly7Arg	rs759931649	missense variant	-	NC_000015.10:g.26772944C>T	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Gly7Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26772943C>G	NCI-TCGA
GABRB3	P28472	p.Gly7Glu	rs777263662	missense variant	-	NC_000015.10:g.26772943C>T	ExAC,gnomAD
GABRB3	P28472	p.Leu9Ile	rs556238396	missense variant	-	NC_000015.10:g.26772938G>T	1000Genomes,ExAC,gnomAD
GABRB3	P28472	p.Leu9Phe	rs556238396	missense variant	-	NC_000015.10:g.26772938G>A	1000Genomes,ExAC,gnomAD
GABRB3	P28472	p.Phe10Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26772935A>C	NCI-TCGA
GABRB3	P28472	p.Gly11Cys	rs1158134414	missense variant	-	NC_000015.10:g.26772932C>A	gnomAD
GABRB3	P28472	p.Gly11Ser	rs1158134414	missense variant	-	NC_000015.10:g.26772932C>T	gnomAD
GABRB3	P28472	p.Ile12Val	rs1451852360	missense variant	-	NC_000015.10:g.26772929T>C	TOPMed,gnomAD
GABRB3	P28472	p.Phe13Leu	rs1370466943	missense variant	-	NC_000015.10:g.26772926A>G	gnomAD
GABRB3	P28472	p.Ser14Ter	rs868500530	stop gained	-	NC_000015.10:g.26772922G>T	gnomAD
GABRB3	P28472	p.Ser14Leu	rs868500530	missense variant	-	NC_000015.10:g.26772922G>A	gnomAD
GABRB3	P28472	p.Ser15Phe	VAR_082791	Missense	Epilepsy, childhood absence 5 (ECA5) [MIM:612269]	-	UniProt
GABRB3	P28472	p.Pro16Gln	rs1181620612	missense variant	-	NC_000015.10:g.26772916G>T	gnomAD
GABRB3	P28472	p.Pro16Thr	rs1242309134	missense variant	-	NC_000015.10:g.26772917G>T	gnomAD
GABRB3	P28472	p.Ala25Ser	rs1448726231	missense variant	-	NC_000015.10:g.26772890C>A	TOPMed,gnomAD
GABRB3	P28472	p.Gln26Lys	rs867679278	missense variant	-	NC_000015.10:g.26772887G>T	gnomAD
GABRB3	P28472	p.Ser27Ile	rs865875277	missense variant	-	NC_000015.10:g.26772883C>A	gnomAD
GABRB3	P28472	p.Val28Leu	rs1212831525	missense variant	-	NC_000015.10:g.26772771C>A	TOPMed,gnomAD
GABRB3	P28472	p.Val28Ala	rs777797308	missense variant	-	NC_000015.10:g.26772770A>G	ExAC,gnomAD
GABRB3	P28472	p.Asp30Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26772765C>T	NCI-TCGA
GABRB3	P28472	p.Gly32Arg	RCV000017577	missense variant	Epilepsy, childhood absence 5 (ECA5)	NC_000015.10:g.26772759C>T	ClinVar
GABRB3	P28472	p.Gly32Arg	rs71651682	missense variant	-	NC_000015.10:g.26772759C>T	gnomAD
GABRB3	P28472	p.Asn33Lys	rs748306024	missense variant	-	NC_000015.10:g.26772754G>T	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Glu39Lys	rs1468792368	missense variant	-	NC_000015.10:g.26772738C>T	gnomAD
GABRB3	P28472	p.Glu39Lys	rs1468792368	missense variant	-	NC_000015.10:g.26772738C>T	NCI-TCGA
GABRB3	P28472	p.Thr40Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26772734G>A	NCI-TCGA
GABRB3	P28472	p.Thr40Lys	rs1178513934	missense variant	-	NC_000015.10:g.26772734G>T	TOPMed,gnomAD
GABRB3	P28472	p.Thr40Ala	rs1426593784	missense variant	-	NC_000015.10:g.26772735T>C	gnomAD
GABRB3	P28472	p.Val41Met	rs1334054422	missense variant	-	NC_000015.10:g.26772732C>T	TOPMed
GABRB3	P28472	p.Asp42Gly	rs1180162727	missense variant	-	NC_000015.10:g.26772728T>C	gnomAD
GABRB3	P28472	p.Lys43Arg	rs780661570	missense variant	-	NC_000015.10:g.26772725T>C	ExAC,gnomAD
GABRB3	P28472	p.Lys46Gln	rs1057520112	missense variant	-	NC_000015.10:g.26772717T>G	-
GABRB3	P28472	p.Lys46Thr	rs1203622090	missense variant	-	NC_000015.10:g.26772716T>G	gnomAD
GABRB3	P28472	p.Lys46Gln	RCV000428980	missense variant	-	NC_000015.10:g.26772717T>G	ClinVar
GABRB3	P28472	p.Gly47Ala	rs1321425602	missense variant	-	NC_000015.10:g.26772713C>G	gnomAD
GABRB3	P28472	p.Arg51His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26772701C>T	NCI-TCGA
GABRB3	P28472	p.Arg51Cys	COSM3690337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26772702G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Asp55Asn	rs537830865	missense variant	-	NC_000015.10:g.26772690C>T	NCI-TCGA
GABRB3	P28472	p.Asp55Asn	rs537830865	missense variant	-	NC_000015.10:g.26772690C>T	1000Genomes
GABRB3	P28472	p.Pro59Ser	rs1555383878	missense variant	-	NC_000015.10:g.26772467G>A	-
GABRB3	P28472	p.Pro59Ser	RCV000525350	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26772467G>A	ClinVar
GABRB3	P28472	p.Pro60Leu	COSM1372179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26772463G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Val61Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26772461C>T	NCI-TCGA
GABRB3	P28472	p.Val63Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26772455C>A	NCI-TCGA
GABRB3	P28472	p.Asn66Ser	rs1360593791	missense variant	-	NC_000015.10:g.26772445T>C	gnomAD
GABRB3	P28472	p.Asp68Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26772440C>T	NCI-TCGA
GABRB3	P28472	p.Ala70Ser	rs1406390237	missense variant	-	NC_000015.10:g.26772434C>A	gnomAD
GABRB3	P28472	p.Ser71Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26772430C>A	NCI-TCGA
GABRB3	P28472	p.Ser71Asn	rs1469460053	missense variant	-	NC_000015.10:g.26772430C>T	TOPMed,gnomAD
GABRB3	P28472	p.Ile72Ser	rs1302144860	missense variant	-	NC_000015.10:g.26772427A>C	TOPMed
GABRB3	P28472	p.Asp73His	rs768859258	missense variant	-	NC_000015.10:g.26772425C>G	TOPMed,gnomAD
GABRB3	P28472	p.Asp73His	RCV000465465	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26772425C>G	ClinVar
GABRB3	P28472	p.Met74Val	rs1456675163	missense variant	-	NC_000015.10:g.26772422T>C	gnomAD
GABRB3	P28472	p.Glu77Lys	COSM1587794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26772413C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Met80Arg	rs1064794797	missense variant	-	NC_000015.10:g.26772403A>C	-
GABRB3	P28472	p.Met80Thr	rs1064794797	missense variant	-	NC_000015.10:g.26772403A>G	-
GABRB3	P28472	p.Met80Val	rs72708067	missense variant	-	NC_000015.10:g.26772404T>C	1000Genomes,gnomAD
GABRB3	P28472	p.Met80Thr	RCV000822033	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26772403A>G	ClinVar
GABRB3	P28472	p.Met80Arg	RCV000677391	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26772403A>C	ClinVar
GABRB3	P28472	p.Asp81Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621534C>T	NCI-TCGA
GABRB3	P28472	p.Asp81Tyr	COSM1587796	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621534C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Thr83Ile	rs1192355073	missense variant	-	NC_000015.10:g.26621527G>A	gnomAD
GABRB3	P28472	p.Thr85SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.26621521_26621522insGTGTTGAATATCTCAC	NCI-TCGA
GABRB3	P28472	p.Gln90Ter	rs1199699671	stop gained	-	NC_000015.10:g.26621507G>A	gnomAD
GABRB3	P28472	p.Tyr91His	rs1423283107	missense variant	-	NC_000015.10:g.26621504A>G	TOPMed
GABRB3	P28472	p.Trp92Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621500C>A	NCI-TCGA
GABRB3	P28472	p.Trp92Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621499C>G	NCI-TCGA
GABRB3	P28472	p.Asp94Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621495C>A	NCI-TCGA
GABRB3	P28472	p.Leu97Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621486G>A	NCI-TCGA
GABRB3	P28472	p.Ala98Thr	rs756369937	missense variant	-	NC_000015.10:g.26621483C>T	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Ala98Thr	RCV000646108	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26621483C>T	ClinVar
GABRB3	P28472	p.Ala98Thr	RCV000763953	missense variant	Epilepsy, childhood absence 5 (ECA5)	NC_000015.10:g.26621483C>T	ClinVar
GABRB3	P28472	p.Tyr99Cys	RCV000697686	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26621479T>C	ClinVar
GABRB3	P28472	p.Ser100Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621476G>A	NCI-TCGA
GABRB3	P28472	p.Ser100Thr	rs1257480466	missense variant	-	NC_000015.10:g.26621477A>T	gnomAD
GABRB3	P28472	p.Pro103Ser	rs267604145	missense variant	-	NC_000015.10:g.26621468G>A	TOPMed
GABRB3	P28472	p.Pro103Thr	COSM6032100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621468G>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Pro103His	COSM4053766	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621467G>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Leu104Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621465G>C	NCI-TCGA
GABRB3	P28472	p.Asn105Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621461T>G	NCI-TCGA
GABRB3	P28472	p.Thr107Met	rs1347499222	missense variant	-	NC_000015.10:g.26621455G>A	gnomAD
GABRB3	P28472	p.Asp109Asn	COSM1323256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621450C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Asn110Ser	rs751329477	missense variant	-	NC_000015.10:g.26621446T>C	ExAC,gnomAD
GABRB3	P28472	p.Arg111Gln	rs777756010	missense variant	-	NC_000015.10:g.26621443C>T	ExAC,gnomAD
GABRB3	P28472	p.Arg111Ter	rs942355738	stop gained	-	NC_000015.10:g.26621444G>A	-
GABRB3	P28472	p.Val112Glu	rs1057524381	missense variant	-	NC_000015.10:g.26621440A>T	-
GABRB3	P28472	p.Val112Glu	RCV000434227	missense variant	-	NC_000015.10:g.26621440A>T	ClinVar
GABRB3	P28472	p.Asp114Asn	COSM1134009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621435C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Leu116Val	rs1555371873	missense variant	-	NC_000015.10:g.26621429G>C	-
GABRB3	P28472	p.Leu116Val	RCV000658707	missense variant	-	NC_000015.10:g.26621429G>C	ClinVar
GABRB3	P28472	p.Trp117Leu	COSM1147503	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621425C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Val118Leu	rs1281101862	missense variant	-	NC_000015.10:g.26621423C>G	TOPMed
GABRB3	P28472	p.Pro119Ser	COSM3500231	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621420G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Asp120Asn	rs886037938	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26621417C>T	UniProt,dbSNP
GABRB3	P28472	p.Asp120Asn	VAR_077076	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26621417C>T	UniProt
GABRB3	P28472	p.Asp120Asn	rs886037938	missense variant	-	NC_000015.10:g.26621417C>T	-
GABRB3	P28472	p.Asp120Asn	RCV000240945	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26621417C>T	ClinVar
GABRB3	P28472	p.Thr121Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621413G>A	NCI-TCGA
GABRB3	P28472	p.Phe123Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621406G>T	NCI-TCGA
GABRB3	P28472	p.Leu124Phe	rs1057519550	missense variant	-	NC_000015.10:g.26621403T>G	-
GABRB3	P28472	p.Leu124Phe	RCV000416972	missense variant	-	NC_000015.10:g.26621403T>G	ClinVar
GABRB3	P28472	p.Asp126Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621399C>A	NCI-TCGA
GABRB3	P28472	p.Lys127Arg	rs1057519201	missense variant	-	NC_000015.10:g.26621395T>C	-
GABRB3	P28472	p.Lys127Arg	RCV000416050	missense variant	-	NC_000015.10:g.26621395T>C	ClinVar
GABRB3	P28472	p.Lys128Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621392T>A	NCI-TCGA
GABRB3	P28472	p.Ser129ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.26621391_26621392insT	NCI-TCGA
GABRB3	P28472	p.Val131Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621384C>A	NCI-TCGA
GABRB3	P28472	p.Val131Met	rs766542639	missense variant	-	NC_000015.10:g.26621384C>T	ExAC,gnomAD
GABRB3	P28472	p.His132AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.26621382_26621383insA	NCI-TCGA
GABRB3	P28472	p.His132Arg	COSM272707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621380T>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly133Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.26621378C>A	NCI-TCGA
GABRB3	P28472	p.Val136Leu	rs773544664	missense variant	-	NC_000015.10:g.26621369C>A	ExAC,gnomAD
GABRB3	P28472	p.Val136Met	rs773544664	missense variant	-	NC_000015.10:g.26621369C>T	ExAC,gnomAD
GABRB3	P28472	p.Asn138insAsnHis	VAR_078619	inframe_insertion	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
GABRB3	P28472	p.Arg139His	rs1197311612	missense variant	-	NC_000015.10:g.26621359C>T	gnomAD
GABRB3	P28472	p.Arg139Cys	rs767913731	missense variant	-	NC_000015.10:g.26621360G>A	ExAC,gnomAD
GABRB3	P28472	p.Arg139Leu	COSM1147499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621359C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Met140Val	rs1555371848	missense variant	-	NC_000015.10:g.26621357T>C	-
GABRB3	P28472	p.Met140Val	RCV000555655	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26621357T>C	ClinVar
GABRB3	P28472	p.Arg142His	rs1218862447	missense variant	-	NC_000015.10:g.26621350C>T	gnomAD
GABRB3	P28472	p.Leu143Phe	COSM3886800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621348G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Pro145Arg	rs1325124119	missense variant	-	NC_000015.10:g.26621341G>C	TOPMed
GABRB3	P28472	p.Pro145Ser	COSM3500228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26621342G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Asp146GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.26621337_26621338insTC	NCI-TCGA
GABRB3	P28472	p.Asp146Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621339C>T	NCI-TCGA
GABRB3	P28472	p.Val149Leu	rs1197280536	missense variant	-	NC_000015.10:g.26621330C>A	TOPMed
GABRB3	P28472	p.Leu153Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26621318G>A	NCI-TCGA
GABRB3	P28472	p.Thr157Met	VAR_077077	Missense	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
GABRB3	P28472	p.Ala160Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26583397G>A	NCI-TCGA
GABRB3	P28472	p.Met162Thr	RCV000521015	missense variant	-	NC_000015.10:g.26583391A>G	ClinVar
GABRB3	P28472	p.Met162Thr	rs1555368636	missense variant	-	NC_000015.10:g.26583391A>G	-
GABRB3	P28472	p.Met163Val	rs1060502666	missense variant	-	NC_000015.10:g.26583389T>C	-
GABRB3	P28472	p.Met163Val	RCV000461344	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26583389T>C	ClinVar
GABRB3	P28472	p.Met163Val	RCV000624061	missense variant	Inborn genetic diseases	NC_000015.10:g.26583389T>C	ClinVar
GABRB3	P28472	p.Leu165Phe	COSM3401650	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26583383G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Arg166Ser	rs754851264	missense variant	-	NC_000015.10:g.26583378C>G	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg167Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26583376C>T	NCI-TCGA
GABRB3	P28472	p.Tyr168Ter	rs1060502665	stop gained	-	NC_000015.10:g.26583372G>T	-
GABRB3	P28472	p.Tyr168Ter	RCV000474078	nonsense	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26583372G>T	ClinVar
GABRB3	P28472	p.Pro169Leu	rs1555368630	missense variant	-	NC_000015.10:g.26583370G>A	-
GABRB3	P28472	p.Pro169Leu	RCV000646103	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26583370G>A	ClinVar
GABRB3	P28472	p.Leu170Arg	rs1555368626	missense variant	-	NC_000015.10:g.26583367A>C	-
GABRB3	P28472	p.Leu170TrpPheSerTerUnkUnk	COSM4686131	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26583368G>-	NCI-TCGA Cosmic
GABRB3	P28472	p.Leu170Arg	RCV000522263	missense variant	-	NC_000015.10:g.26583367A>C	ClinVar
GABRB3	P28472	p.Asp171Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26583365C>T	NCI-TCGA
GABRB3	P28472	p.Gln173His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26583357C>A	NCI-TCGA
GABRB3	P28472	p.Gln173Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26583359G>T	NCI-TCGA
GABRB3	P28472	p.Gln173Leu	rs17850679	missense variant	-	NC_000015.10:g.26583358T>A	UniProt,dbSNP
GABRB3	P28472	p.Gln173Leu	VAR_047958	missense variant	-	NC_000015.10:g.26583358T>A	UniProt
GABRB3	P28472	p.Gln173Leu	rs17850679	missense variant	-	NC_000015.10:g.26583358T>A	-
GABRB3	P28472	p.Leu177Val	COSM4826130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26583347G>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Glu178Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26583342T>G	NCI-TCGA
GABRB3	P28472	p.Glu178Lys	COSM3500225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26583344C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Tyr182Phe	rs886037939	missense variant	-	NC_000015.10:g.26580456T>A	-
GABRB3	P28472	p.Tyr182Phe	rs886037939	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26580456T>A	UniProt,dbSNP
GABRB3	P28472	p.Tyr182Phe	VAR_077078	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26580456T>A	UniProt
GABRB3	P28472	p.Tyr182Phe	RCV000240882	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26580456T>A	ClinVar
GABRB3	P28472	p.Gly183Asp	COSM1587798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580453C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Thr185Ile	rs1131691481	missense variant	-	NC_000015.10:g.26580447G>A	-
GABRB3	P28472	p.Thr185Ile	RCV000494267	missense variant	-	NC_000015.10:g.26580447G>A	ClinVar
GABRB3	P28472	p.Thr186Met	rs769801846	missense variant	-	NC_000015.10:g.26580444G>A	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Asp187Asn	COSM4895274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580442C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Asp188Asn	COSM1516756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580439C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Glu190Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26580431C>A	NCI-TCGA
GABRB3	P28472	p.Arg194Gln	rs369581041	missense variant	-	NC_000015.10:g.26580420C>T	ESP,TOPMed
GABRB3	P28472	p.Arg194Ter	rs1555368345	stop gained	-	NC_000015.10:g.26580421G>A	-
GABRB3	P28472	p.Arg194Ter	RCV000578758	nonsense	-	NC_000015.10:g.26580421G>A	ClinVar
GABRB3	P28472	p.Gly196Glu	rs1377234655	missense variant	-	NC_000015.10:g.26580414C>T	TOPMed,gnomAD
GABRB3	P28472	p.Gly196Trp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26580415C>A	NCI-TCGA
GABRB3	P28472	p.Asp197Asn	rs375461837	missense variant	-	NC_000015.10:g.26580412C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Lys198Asn	rs1381956789	missense variant	-	NC_000015.10:g.26580407C>A	TOPMed,gnomAD
GABRB3	P28472	p.Ala199Val	rs1423915719	missense variant	-	NC_000015.10:g.26580405G>A	TOPMed
GABRB3	P28472	p.Val200AspCysAlaTyrTerMetLeuCysIleValIle	NCI-TCGA novel	stop gained	-	NC_000015.10:g.26580402_26580403insTTACAATGCACAGCATTCAGTAAGCACAGT	NCI-TCGA
GABRB3	P28472	p.Val200Ile	rs372359936	missense variant	-	NC_000015.10:g.26580403C>T	ESP,ExAC,gnomAD
GABRB3	P28472	p.Thr201Ala	rs1235802940	missense variant	-	NC_000015.10:g.26580400T>C	gnomAD
GABRB3	P28472	p.Gly202Arg	rs758801051	missense variant	-	NC_000015.10:g.26580397C>T	ExAC,gnomAD
GABRB3	P28472	p.Gly202Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26580396C>A	NCI-TCGA
GABRB3	P28472	p.Glu207Ala	rs753078265	missense variant	-	NC_000015.10:g.26580381T>G	ExAC,gnomAD
GABRB3	P28472	p.Leu208Phe	rs1369230542	missense variant	-	NC_000015.10:g.26580379G>A	TOPMed
GABRB3	P28472	p.Pro209Leu	rs765803669	missense variant	-	NC_000015.10:g.26580375G>A	ExAC,gnomAD
GABRB3	P28472	p.Pro209Ser	COSM3500216	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580376G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Ile213Val	rs749931408	missense variant	-	NC_000015.10:g.26580364T>C	ExAC,gnomAD
GABRB3	P28472	p.Val214Met	rs761554616	missense variant	-	NC_000015.10:g.26580361C>T	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.His216Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26580355G>A	NCI-TCGA
GABRB3	P28472	p.Arg217Cys	rs1301259280	missense variant	-	NC_000015.10:g.26580352G>A	gnomAD
GABRB3	P28472	p.Arg217Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26580351C>A	NCI-TCGA
GABRB3	P28472	p.Arg217Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26580352G>C	NCI-TCGA
GABRB3	P28472	p.Arg217His	RCV000017574	missense variant	Insomnia	NC_000015.10:g.26580351C>T	ClinVar
GABRB3	P28472	p.Arg217His	rs121913125	missense variant	-	NC_000015.10:g.26580351C>T	UniProt,dbSNP
GABRB3	P28472	p.Arg217His	VAR_047959	missense variant	-	NC_000015.10:g.26580351C>T	UniProt
GABRB3	P28472	p.Arg217His	rs121913125	missense variant	-	NC_000015.10:g.26580351C>T	1000Genomes,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg217Ser	COSM389148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580352G>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Arg217His	RCV000703382	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26580351C>T	ClinVar
GABRB3	P28472	p.Ser220Leu	rs769693685	missense variant	-	NC_000015.10:g.26580342G>A	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg221Lys	rs148418004	missense variant	-	NC_000015.10:g.26580339C>T	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Val223Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26580334C>T	NCI-TCGA
GABRB3	P28472	p.Val223Phe	COSM1147491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580334C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Ala226Thr	COSM1252984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580325C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Thr227Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26580321G>T	NCI-TCGA
GABRB3	P28472	p.Thr227Arg	COSM1587800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26580321G>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly228Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26580319C>T	NCI-TCGA
GABRB3	P28472	p.Ala229Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567730G>T	NCI-TCGA
GABRB3	P28472	p.Pro231Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567725G>T	NCI-TCGA
GABRB3	P28472	p.Arg232Gln	rs797045045	missense variant	-	NC_000015.10:g.26567721C>T	UniProt,dbSNP
GABRB3	P28472	p.Arg232Gln	VAR_079429	missense variant	-	NC_000015.10:g.26567721C>T	UniProt
GABRB3	P28472	p.Arg232Pro	RCV000191088	missense variant	Epilepsy, childhood absence 5 (ECA5)	NC_000015.10:g.26567721C>G	ClinVar
GABRB3	P28472	p.Arg232Gln	RCV000699220	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26567721C>T	ClinVar
GABRB3	P28472	p.Ser234Thr	COSM266572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567716A>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Ser234Leu	RCV000693650	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26567715G>A	ClinVar
GABRB3	P28472	p.Leu235Gln	COSM6077019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567712A>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Ser236Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567709C>T	NCI-TCGA
GABRB3	P28472	p.Phe237Leu	COSM2150643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567707A>G	NCI-TCGA Cosmic
GABRB3	P28472	p.Arg238Gln	rs773257229	missense variant	-	NC_000015.10:g.26567703C>T	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg238Trp	RCV000646107	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26567704G>A	ClinVar
GABRB3	P28472	p.Arg238Trp	rs144496462	missense variant	-	NC_000015.10:g.26567704G>A	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg238Leu	COSM6077022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567703C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Arg241Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567694C>G	NCI-TCGA
GABRB3	P28472	p.Asn242Asp	COSM1587802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567692T>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Ile243Val	COSM6141985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567689T>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly244Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567685C>T	NCI-TCGA
GABRB3	P28472	p.Ile247Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567677T>C	NCI-TCGA
GABRB3	P28472	p.Gln249Lys	rs886037940	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26567671G>T	UniProt,dbSNP
GABRB3	P28472	p.Gln249Lys	VAR_077079	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26567671G>T	UniProt
GABRB3	P28472	p.Gln249Lys	rs886037940	missense variant	-	NC_000015.10:g.26567671G>T	-
GABRB3	P28472	p.Gln249Lys	RCV000240922	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26567671G>T	ClinVar
GABRB3	P28472	p.Thr250Ile	rs41307112	missense variant	-	NC_000015.10:g.26567667G>A	gnomAD
GABRB3	P28472	p.Tyr251Cys	COSM1147485	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567664T>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Tyr251Asp	COSM4839152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567665A>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Met252Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567662T>C	NCI-TCGA
GABRB3	P28472	p.Pro253Leu	rs1064796514	missense variant	-	NC_000015.10:g.26567658G>A	-
GABRB3	P28472	p.Pro253Leu	RCV000486184	missense variant	-	NC_000015.10:g.26567658G>A	ClinVar
GABRB3	P28472	p.Ser254Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567656A>T	NCI-TCGA
GABRB3	P28472	p.Ser254Phe	rs1057519549	missense variant	-	NC_000015.10:g.26567655G>A	-
GABRB3	P28472	p.Ser254Phe	RCV000416942	missense variant	-	NC_000015.10:g.26567655G>A	ClinVar
GABRB3	P28472	p.Ile255Val	rs748359037	missense variant	-	NC_000015.10:g.26567653T>C	ExAC,gnomAD
GABRB3	P28472	p.Leu256Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567649A>T	NCI-TCGA
GABRB3	P28472	p.Leu256Val	rs1555401942	missense variant	-	NC_000015.10:g.26567650G>C	-
GABRB3	P28472	p.Leu256Val	RCV000503999	missense variant	Epilepsy, childhood absence 5 (ECA5)	NC_000015.10:g.26567650G>C	ClinVar
GABRB3	P28472	p.Leu256Gln	VAR_077080	Missense	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
GABRB3	P28472	p.Thr258Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567643G>T	NCI-TCGA
GABRB3	P28472	p.Thr258Met	COSM167395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567643G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Asn268Lys	rs1423742333	missense variant	-	NC_000015.10:g.26567612A>C	gnomAD
GABRB3	P28472	p.Ala273Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567598G>C	NCI-TCGA
GABRB3	P28472	p.Ala277Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26567586G>A	NCI-TCGA
GABRB3	P28472	p.Gly279Arg	COSM1134463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26567581C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Ile280Phe	rs1057518036	missense variant	-	NC_000015.10:g.26561174T>A	-
GABRB3	P28472	p.Ile280Phe	RCV000413814	missense variant	-	NC_000015.10:g.26561174T>A	ClinVar
GABRB3	P28472	p.Thr281Ala	RCV000662203	missense variant	Epileptic encephalopathy, early infantile, 1 (EIEE1)	NC_000015.10:g.26561171T>C	ClinVar
GABRB3	P28472	p.Thr281Ala	RCV000662204	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26561171T>C	ClinVar
GABRB3	P28472	p.Thr281Ala	rs1555401442	missense variant	-	NC_000015.10:g.26561171T>C	-
GABRB3	P28472	p.Thr282Asn	COSM6077028	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561167G>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Thr287Ile	VAR_078719	Missense	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
GABRB3	P28472	p.Thr288Ile	RCV000624329	missense variant	Inborn genetic diseases	NC_000015.10:g.26561149G>A	ClinVar
GABRB3	P28472	p.Thr288Ile	rs1555401440	missense variant	-	NC_000015.10:g.26561149G>A	-
GABRB3	P28472	p.His292Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26561136G>T	NCI-TCGA
GABRB3	P28472	p.Leu293His	VAR_077081	Missense	Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113]	-	UniProt
GABRB3	P28472	p.Arg294Pro	rs1085308023	missense variant	-	NC_000015.10:g.26561131C>G	-
GABRB3	P28472	p.Arg294Trp	rs769077258	missense variant	-	NC_000015.10:g.26561132G>A	ExAC,gnomAD
GABRB3	P28472	p.Arg294Gln	COSM1587804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561131C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Arg294Pro	RCV000488932	missense variant	-	NC_000015.10:g.26561131C>G	ClinVar
GABRB3	P28472	p.Glu295ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.26561129C>-	NCI-TCGA
GABRB3	P28472	p.Glu295Asp	rs749704431	missense variant	-	NC_000015.10:g.26561127C>A	ExAC,TOPMed
GABRB3	P28472	p.Thr296Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26561126T>C	NCI-TCGA
GABRB3	P28472	p.Pro298His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26561119G>T	NCI-TCGA
GABRB3	P28472	p.Lys299Gln	RCV000706288	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26561117T>G	ClinVar
GABRB3	P28472	p.Ile300Leu	RCV000761900	missense variant	-	NC_000015.10:g.26561114T>G	ClinVar
GABRB3	P28472	p.Pro301Ser	COSM1236030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561111G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Pro301Leu	COSM4396927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561110G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Lys304Glu	RCV000646102	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26561102T>C	ClinVar
GABRB3	P28472	p.Lys304Glu	rs1555401426	missense variant	-	NC_000015.10:g.26561102T>C	-
GABRB3	P28472	p.Ala305Asp	rs1555401425	missense variant	-	NC_000015.10:g.26561098G>T	-
GABRB3	P28472	p.Ala305Thr	rs886037941	missense variant	-	NC_000015.10:g.26561099C>T	-
GABRB3	P28472	p.Ala305Thr	rs886037941	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26561099C>T	UniProt,dbSNP
GABRB3	P28472	p.Ala305Thr	VAR_077082	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26561099C>T	UniProt
GABRB3	P28472	p.Ala305Thr	RCV000240948	missense variant	Epileptic encephalopathy, early infantile, 43 (EIEE43)	NC_000015.10:g.26561099C>T	ClinVar
GABRB3	P28472	p.Ala305Asp	RCV000519511	missense variant	-	NC_000015.10:g.26561098G>T	ClinVar
GABRB3	P28472	p.Met308Thr	rs746425161	missense variant	-	NC_000015.10:g.26561089A>G	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Leu310Phe	COSM6141991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561084G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Met311Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26561079C>A	NCI-TCGA
GABRB3	P28472	p.Phe314Leu	COSM1147479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561070G>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Leu319Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26561056A>T	NCI-TCGA
GABRB3	P28472	p.Tyr324Cys	rs149963014	missense variant	-	NC_000015.10:g.26561041T>C	1000Genomes,ExAC,gnomAD
GABRB3	P28472	p.Tyr324Ser	COSM6077031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561041T>G	NCI-TCGA Cosmic
GABRB3	P28472	p.Ala325Pro	COSM1147477	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561039C>G	NCI-TCGA Cosmic
GABRB3	P28472	p.Phe331Ser	rs766202246	missense variant	-	NC_000015.10:g.26561020A>G	ExAC,gnomAD
GABRB3	P28472	p.Phe331Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26561019G>T	NCI-TCGA
GABRB3	P28472	p.Phe331Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26561019G>C	NCI-TCGA
GABRB3	P28472	p.Phe332Ser	RCV000646101	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26561017A>G	ClinVar
GABRB3	P28472	p.Phe332Ser	rs1555401411	missense variant	-	NC_000015.10:g.26561017A>G	-
GABRB3	P28472	p.Phe332Ile	COSM4895424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561018A>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly333Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26561014C>A	NCI-TCGA
GABRB3	P28472	p.Gly333Glu	COSM3500207	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561014C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly335Ser	COSM6141994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561009C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly335Val	COSM6141997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561008C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Pro336Ser	rs1473786163	missense variant	-	NC_000015.10:g.26561006G>A	gnomAD
GABRB3	P28472	p.Pro336Leu	COSM4894164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26561005G>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Lys340Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26560993T>A	NCI-TCGA
GABRB3	P28472	p.Lys340Arg	rs1187106820	missense variant	-	NC_000015.10:g.26560993T>C	gnomAD
GABRB3	P28472	p.Lys341Gln	rs761102474	missense variant	-	NC_000015.10:g.26560991T>G	ExAC,gnomAD
GABRB3	P28472	p.Lys341Glu	COSM1147475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560991T>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Lys341Gln	RCV000646104	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560991T>G	ClinVar
GABRB3	P28472	p.Leu342His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26560987A>T	NCI-TCGA
GABRB3	P28472	p.Leu342Ile	COSM4828687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560988G>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Glu344Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.26560982C>A	NCI-TCGA
GABRB3	P28472	p.Lys345Glu	rs1224993536	missense variant	-	NC_000015.10:g.26560979T>C	TOPMed
GABRB3	P28472	p.Thr346Ile	rs761805689	missense variant	-	NC_000015.10:g.26560975G>A	ExAC,gnomAD
GABRB3	P28472	p.Ala347Ser	rs1365439059	missense variant	-	NC_000015.10:g.26560973C>A	gnomAD
GABRB3	P28472	p.Ala347Pro	RCV000687292	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560973C>G	ClinVar
GABRB3	P28472	p.Lys350Arg	rs769025931	missense variant	-	NC_000015.10:g.26560963T>C	ExAC,gnomAD
GABRB3	P28472	p.Lys350Asn	rs1312128047	missense variant	-	NC_000015.10:g.26560962C>G	TOPMed
GABRB3	P28472	p.Lys350Ter	COSM1372146	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26560964T>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Lys350Asn	COSM1587806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560962C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Lys350Gln	COSM4400508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560964T>G	NCI-TCGA Cosmic
GABRB3	P28472	p.Asn351Ser	rs763319754	missense variant	-	NC_000015.10:g.26560960T>C	ExAC,TOPMed
GABRB3	P28472	p.Arg353His	RCV000538045	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560954C>T	ClinVar
GABRB3	P28472	p.Arg353His	rs200057173	missense variant	-	NC_000015.10:g.26560954C>T	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg353Pro	rs200057173	missense variant	-	NC_000015.10:g.26560954C>G	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg353Cys	rs775988401	missense variant	-	NC_000015.10:g.26560955G>A	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg353Cys	RCV000646105	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560955G>A	ClinVar
GABRB3	P28472	p.Ser354Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26560951G>A	NCI-TCGA
GABRB3	P28472	p.Ser354Ter	COSM1147473	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26560951G>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Lys355Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26560948T>G	NCI-TCGA
GABRB3	P28472	p.Ser356Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26560946T>G	NCI-TCGA
GABRB3	P28472	p.Glu357Ala	rs1353127492	missense variant	-	NC_000015.10:g.26560942T>G	gnomAD
GABRB3	P28472	p.Glu357Lys	rs572427454	missense variant	-	NC_000015.10:g.26560943C>T	1000Genomes,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg360Pro	rs778442239	missense variant	-	NC_000015.10:g.26560933C>G	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg360Gln	rs778442239	missense variant	-	NC_000015.10:g.26560933C>T	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg360Trp	rs771568810	missense variant	-	NC_000015.10:g.26560934G>A	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg360Leu	COSM6142000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26560933C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Arg360Trp	RCV000548416	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26560934G>A	ClinVar
GABRB3	P28472	p.Asp362Asn	rs1323522480	missense variant	-	NC_000015.10:g.26548131C>T	gnomAD
GABRB3	P28472	p.Ala363Val	rs770127431	missense variant	-	NC_000015.10:g.26548127G>A	ExAC,gnomAD
GABRB3	P28472	p.His364Tyr	rs1171643037	missense variant	-	NC_000015.10:g.26548125G>A	gnomAD
GABRB3	P28472	p.His364Asn	COSM6077034	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548125G>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly365Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.26548122C>A	NCI-TCGA
GABRB3	P28472	p.Gly365Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26548121C>T	NCI-TCGA
GABRB3	P28472	p.Asn366Ser	rs759847671	missense variant	-	NC_000015.10:g.26548118T>C	ExAC,gnomAD
GABRB3	P28472	p.Ile367Thr	rs1259967534	missense variant	-	NC_000015.10:g.26548115A>G	gnomAD
GABRB3	P28472	p.Leu368Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26548113G>T	NCI-TCGA
GABRB3	P28472	p.Leu369Ter	NCI-TCGA novel	frameshift	-	NC_000015.10:g.26548111C>-	NCI-TCGA
GABRB3	P28472	p.Thr370Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26548106G>A	NCI-TCGA
GABRB3	P28472	p.Ser371Leu	rs1220761805	missense variant	-	NC_000015.10:g.26548103G>A	gnomAD
GABRB3	P28472	p.Ser371Trp	rs1220761805	missense variant	-	NC_000015.10:g.26548103G>C	gnomAD
GABRB3	P28472	p.Ser371Ala	rs747555032	missense variant	-	NC_000015.10:g.26548104A>C	ExAC,gnomAD
GABRB3	P28472	p.Glu373Lys	rs1316976738	missense variant	-	NC_000015.10:g.26548098C>T	gnomAD
GABRB3	P28472	p.Glu373Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26548096T>G	NCI-TCGA
GABRB3	P28472	p.Glu373Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.26548098C>A	NCI-TCGA
GABRB3	P28472	p.Val374Ile	rs1293030887	missense variant	-	NC_000015.10:g.26548095C>T	gnomAD
GABRB3	P28472	p.His375Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26548092G>A	NCI-TCGA
GABRB3	P28472	p.Asn376Ser	rs756866953	missense variant	-	NC_000015.10:g.26548088T>C	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Asn376Thr	rs756866953	missense variant	-	NC_000015.10:g.26548088T>G	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Glu377Ala	rs1293440696	missense variant	-	NC_000015.10:g.26548085T>G	gnomAD
GABRB3	P28472	p.Met378Val	COSM4053757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548083T>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Met378Ile	COSM291389	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548081C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Asn379Ser	rs1439421386	missense variant	-	NC_000015.10:g.26548079T>C	gnomAD
GABRB3	P28472	p.Glu380Ala	rs745675693	missense variant	-	NC_000015.10:g.26548076T>G	ExAC,gnomAD
GABRB3	P28472	p.Val381Asp	COSM4053754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548073A>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Ser382Ter	COSM4395939	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26548070G>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly383Asp	RCV000702509	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26548067C>T	ClinVar
GABRB3	P28472	p.Gly384Ser	rs757233280	missense variant	-	NC_000015.10:g.26548065C>T	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Gly384Asp	COSM3500201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548064C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Ile385Val	rs1352939866	missense variant	-	NC_000015.10:g.26548062T>C	TOPMed,gnomAD
GABRB3	P28472	p.Gly386Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26548059C>A	NCI-TCGA
GABRB3	P28472	p.Gly386Asp	COSM1587808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548058C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Asp387Tyr	rs373823173	missense variant	-	NC_000015.10:g.26548056C>A	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Asp387Asn	rs373823173	missense variant	-	NC_000015.10:g.26548056C>T	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Thr388Asn	rs1238941293	missense variant	-	NC_000015.10:g.26548052G>T	TOPMed
GABRB3	P28472	p.Ser391Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.26548043G>C	NCI-TCGA
GABRB3	P28472	p.Ser391Leu	rs868123323	missense variant	-	NC_000015.10:g.26548043G>A	gnomAD
GABRB3	P28472	p.Ala392Pro	rs1452550296	missense variant	-	NC_000015.10:g.26548041C>G	gnomAD
GABRB3	P28472	p.Ile393Val	rs376621773	missense variant	-	NC_000015.10:g.26548038T>C	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Ser394Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26548035A>G	NCI-TCGA
GABRB3	P28472	p.Phe395Leu	rs765397939	missense variant	-	NC_000015.10:g.26548030A>T	ExAC
GABRB3	P28472	p.Ser398Leu	rs759850668	missense variant	-	NC_000015.10:g.26548022G>A	ExAC,gnomAD
GABRB3	P28472	p.Gly399Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26548020C>T	NCI-TCGA
GABRB3	P28472	p.Gly399Ter	COSM1147469	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26548020C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly399Glu	COSM5920817	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26548019C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Gln401Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.26548014G>A	NCI-TCGA
GABRB3	P28472	p.Tyr402His	rs185383468	missense variant	-	NC_000015.10:g.26548011A>G	1000Genomes,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Tyr402His	RCV000646114	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26548011A>G	ClinVar
GABRB3	P28472	p.Gln405His	rs1249196334	missense variant	-	NC_000015.10:g.26548000C>G	gnomAD
GABRB3	P28472	p.Arg409Ter	RCV000578892	nonsense	-	NC_000015.10:g.26547990G>A	ClinVar
GABRB3	P28472	p.Arg409Ter	rs1555400368	stop gained	-	NC_000015.10:g.26547990G>A	-
GABRB3	P28472	p.Arg409Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547989C>A	NCI-TCGA
GABRB3	P28472	p.Arg409Gln	rs766795597	missense variant	-	NC_000015.10:g.26547989C>T	ExAC,gnomAD
GABRB3	P28472	p.Arg414Leu	rs373229638	missense variant	-	NC_000015.10:g.26547974C>A	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg414Gln	rs373229638	missense variant	-	NC_000015.10:g.26547974C>T	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg414Gly	rs536564598	missense variant	-	NC_000015.10:g.26547975G>C	1000Genomes,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg414Ter	rs536564598	stop gained	-	NC_000015.10:g.26547975G>A	1000Genomes,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg414Leu	RCV000518986	missense variant	-	NC_000015.10:g.26547974C>A	ClinVar
GABRB3	P28472	p.Phe415Leu	COSM4053751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547970G>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Leu416Pro	rs1555400362	missense variant	-	NC_000015.10:g.26547968A>G	-
GABRB3	P28472	p.Leu416Pro	RCV000623967	missense variant	Inborn genetic diseases	NC_000015.10:g.26547968A>G	ClinVar
GABRB3	P28472	p.Leu416Met	COSM6077037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547969G>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Gly417Trp	COSM6142003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547966C>A	NCI-TCGA Cosmic
GABRB3	P28472	p.Asp418Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547962T>A	NCI-TCGA
GABRB3	P28472	p.Arg419Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547958T>G	NCI-TCGA
GABRB3	P28472	p.Arg419Gly	rs1176582489	missense variant	-	NC_000015.10:g.26547960T>C	TOPMed
GABRB3	P28472	p.Arg419Lys	COSM3420200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547959C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Leu421Phe	rs775162860	missense variant	-	NC_000015.10:g.26547954G>A	ExAC,gnomAD
GABRB3	P28472	p.Pro422Leu	rs369631109	missense variant	-	NC_000015.10:g.26547950G>A	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Pro422Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547950G>T	NCI-TCGA
GABRB3	P28472	p.Pro422Ser	rs745578169	missense variant	-	NC_000015.10:g.26547951G>A	ExAC,gnomAD
GABRB3	P28472	p.Pro422Leu	RCV000516729	missense variant	-	NC_000015.10:g.26547950G>A	ClinVar
GABRB3	P28472	p.His423Gln	rs76962261	missense variant	-	NC_000015.10:g.26547946G>C	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.His423Gln	RCV000458912	missense variant	Epilepsy, childhood absence 1 (ECA1)	NC_000015.10:g.26547946G>C	ClinVar
GABRB3	P28472	p.His427Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547936G>T	NCI-TCGA
GABRB3	P28472	p.Leu428Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547933G>T	NCI-TCGA
GABRB3	P28472	p.Arg429Gln	rs777882335	missense variant	-	NC_000015.10:g.26547929C>T	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Arg429Trp	rs1432656203	missense variant	-	NC_000015.10:g.26547930G>A	gnomAD
GABRB3	P28472	p.Arg430Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547926C>A	NCI-TCGA
GABRB3	P28472	p.Gln434His	rs1247883776	missense variant	-	NC_000015.10:g.26547913C>G	gnomAD
GABRB3	P28472	p.Leu435Val	rs1387838469	missense variant	-	NC_000015.10:g.26547912G>C	TOPMed
GABRB3	P28472	p.Ile437Val	rs1483399861	missense variant	-	NC_000015.10:g.26547906T>C	gnomAD
GABRB3	P28472	p.Ile439Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547900T>C	NCI-TCGA
GABRB3	P28472	p.Ile439Met	rs755150694	missense variant	-	NC_000015.10:g.26547898T>C	ExAC,gnomAD
GABRB3	P28472	p.Leu442Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547890A>C	NCI-TCGA
GABRB3	P28472	p.Leu442Ile	rs1356299292	missense variant	-	NC_000015.10:g.26547891G>T	gnomAD
GABRB3	P28472	p.Leu442Val	COSM3794041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547891G>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Thr443Ser	rs1258967085	missense variant	-	NC_000015.10:g.26547887G>C	TOPMed
GABRB3	P28472	p.Thr443Ser	rs1218316231	missense variant	-	NC_000015.10:g.26547888T>A	TOPMed
GABRB3	P28472	p.Asp444Asn	rs766672883	missense variant	-	NC_000015.10:g.26547885C>T	ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Asp444Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547885C>A	NCI-TCGA
GABRB3	P28472	p.Val445Met	COSM6077040	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547882C>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Asn446Asp	rs773671278	missense variant	-	NC_000015.10:g.26547879T>C	ExAC,gnomAD
GABRB3	P28472	p.Ala447Thr	rs762434164	missense variant	-	NC_000015.10:g.26547876C>T	ExAC,gnomAD
GABRB3	P28472	p.Ile448Val	rs377215030	missense variant	-	NC_000015.10:g.26547873T>C	ESP,ExAC,TOPMed,gnomAD
GABRB3	P28472	p.Trp451Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.26547862C>T	NCI-TCGA
GABRB3	P28472	p.Trp451Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547863C>A	NCI-TCGA
GABRB3	P28472	p.Ile454Asn	rs1362237548	missense variant	-	NC_000015.10:g.26547854A>T	gnomAD
GABRB3	P28472	p.Val455Met	rs1453012489	missense variant	-	NC_000015.10:g.26547852C>T	gnomAD
GABRB3	P28472	p.Val455Leu	COSM1147465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547852C>G	NCI-TCGA Cosmic
GABRB3	P28472	p.Pro457Thr	rs1361534288	missense variant	-	NC_000015.10:g.26547846G>T	gnomAD
GABRB3	P28472	p.Thr459Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547839G>T	NCI-TCGA
GABRB3	P28472	p.Phe460Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547836A>C	NCI-TCGA
GABRB3	P28472	p.Ser461Cys	COSM6142006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.26547833G>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Leu462Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.26547830A>C	NCI-TCGA
GABRB3	P28472	p.Leu465Ter	COSM1301000	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26547821A>T	NCI-TCGA Cosmic
GABRB3	P28472	p.Leu465Ter	COSM3500195	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26547821A>C	NCI-TCGA Cosmic
GABRB3	P28472	p.Ter474CysGluUnkThrTerUnkUnk	COSM6142009	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.26547793T>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Ala3Glu	rs1378179068	missense variant	-	NC_000022.11:g.21867433G>T	TOPMed
MAPK1	P28482	p.Ala5Val	rs1282708145	missense variant	-	NC_000022.11:g.21867427G>A	TOPMed
MAPK1	P28482	p.Ala5Gly	rs1282708145	missense variant	-	NC_000022.11:g.21867427G>C	TOPMed
MAPK1	P28482	p.Pro11Leu	rs1165567498	missense variant	-	NC_000022.11:g.21867409G>A	TOPMed
MAPK1	P28482	p.Pro11Ala	rs977423767	missense variant	-	NC_000022.11:g.21867410G>C	TOPMed
MAPK1	P28482	p.Val14Ile	rs1349430059	missense variant	-	NC_000022.11:g.21867401C>T	TOPMed
MAPK1	P28482	p.Gly16Trp	rs1213398032	missense variant	-	NC_000022.11:g.21867395C>A	gnomAD
MAPK1	P28482	p.Gln17Lys	rs1333567613	missense variant	-	NC_000022.11:g.21867392G>T	TOPMed
MAPK1	P28482	p.Val18Leu	rs768479151	missense variant	-	NC_000022.11:g.21867389C>A	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Val18Leu	rs768479151	missense variant	-	NC_000022.11:g.21867389C>G	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Thr26Ala	rs1293681277	missense variant	-	NC_000022.11:g.21867365T>C	gnomAD
MAPK1	P28482	p.Gly34Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21867341C>A	NCI-TCGA
MAPK1	P28482	p.Tyr43Asn	rs758481470	missense variant	-	NC_000022.11:g.21807839A>T	ExAC
MAPK1	P28482	p.Asp44Tyr	rs779189994	missense variant	-	NC_000022.11:g.21807836C>A	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Asp44Asn	rs779189994	missense variant	-	NC_000022.11:g.21807836C>T	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Asn45Ser	rs1008537544	missense variant	-	NC_000022.11:g.21807832T>C	TOPMed
MAPK1	P28482	p.Val46Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21807830C>A	NCI-TCGA
MAPK1	P28482	p.Asn47Asp	rs755253671	missense variant	-	NC_000022.11:g.21807827T>C	ExAC,gnomAD
MAPK1	P28482	p.Arg50Gln	rs754193785	missense variant	-	NC_000022.11:g.21807817C>T	ExAC,gnomAD
MAPK1	P28482	p.Ala52Ser	COSM296310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21807812C>A	NCI-TCGA Cosmic
MAPK1	P28482	p.His61Pro	rs1459279170	missense variant	-	NC_000022.11:g.21807784T>G	TOPMed
MAPK1	P28482	p.Cys65Ser	rs756644901	missense variant	-	NC_000022.11:g.21807773A>T	ExAC
MAPK1	P28482	p.Ile72Val	rs1035981670	missense variant	-	NC_000022.11:g.21807752T>C	TOPMed
MAPK1	P28482	p.Leu76Val	rs761386086	missense variant	-	NC_000022.11:g.21807740G>C	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Arg77Cys	COSM4102903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21807737G>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Arg77Gly	rs1330050442	missense variant	-	NC_000022.11:g.21807737G>C	gnomAD
MAPK1	P28482	p.Arg79Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21807729T>A	NCI-TCGA
MAPK1	P28482	p.Glu81Lys	COSM444749	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21807725C>T	NCI-TCGA Cosmic
MAPK1	P28482	p.Asn87Ser	rs1163552201	missense variant	-	NC_000022.11:g.21807706T>C	TOPMed
MAPK1	P28482	p.Thr94Ala	rs202041676	missense variant	-	NC_000022.11:g.21807686T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Thr94Ile	rs141978504	missense variant	-	NC_000022.11:g.21807685G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Ile95Val	rs1396992418	missense variant	-	NC_000022.11:g.21807683T>C	gnomAD
MAPK1	P28482	p.Glu96Gln	rs530183395	missense variant	-	NC_000022.11:g.21807680C>G	1000Genomes,ExAC,gnomAD
MAPK1	P28482	p.Glu96Lys	rs530183395	missense variant	-	NC_000022.11:g.21807680C>T	1000Genomes,ExAC,gnomAD
MAPK1	P28482	p.Gln97His	rs146182599	missense variant	-	NC_000022.11:g.21807675T>G	ESP,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Met98Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21807672C>T	NCI-TCGA
MAPK1	P28482	p.Asp100Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21807668C>T	NCI-TCGA
MAPK1	P28482	p.Asp106Gly	rs368100872	missense variant	-	NC_000022.11:g.21806025T>C	ESP,ExAC,gnomAD
MAPK1	P28482	p.Asp106His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21806026C>G	NCI-TCGA
MAPK1	P28482	p.Leu112Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21806007A>C	NCI-TCGA
MAPK1	P28482	p.Tyr113Ter	rs1284302844	stop gained	-	NC_000022.11:g.21806003G>C	TOPMed,gnomAD
MAPK1	P28482	p.Leu121Ile	COSM1032485	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21805981G>T	NCI-TCGA Cosmic
MAPK1	P28482	p.Ile126Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21805966T>A	NCI-TCGA
MAPK1	P28482	p.Tyr128His	rs1234816629	missense variant	-	NC_000022.11:g.21805960A>G	TOPMed
MAPK1	P28482	p.Tyr131Cys	COSM5707606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21805950T>C	NCI-TCGA Cosmic
MAPK1	P28482	p.Ile133Val	rs1453621955	missense variant	-	NC_000022.11:g.21805945T>C	gnomAD
MAPK1	P28482	p.Arg135Thr	rs797044892	missense variant	-	NC_000022.11:g.21805938C>G	-
MAPK1	P28482	p.Arg135Lys	COSM3308981	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21805938C>T	NCI-TCGA Cosmic
MAPK1	P28482	p.Arg135Thr	RCV000190714	missense variant	Inborn genetic diseases	NC_000022.11:g.21805938C>G	ClinVar
MAPK1	P28482	p.Gly136Glu	COSM4102902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21805935C>T	NCI-TCGA Cosmic
MAPK1	P28482	p.Ser142Leu	COSM3552430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21805917G>A	NCI-TCGA Cosmic
MAPK1	P28482	p.His147Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21805902T>C	NCI-TCGA
MAPK1	P28482	p.His147Tyr	COSM4929297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21805903G>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Arg148His	rs749425404	missense variant	-	NC_000022.11:g.21805899C>T	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Arg148Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21805900G>A	NCI-TCGA
MAPK1	P28482	p.Leu157Phe	rs1166008722	missense variant	-	NC_000022.11:g.21805873G>A	TOPMed
MAPK1	P28482	p.Asp162Gly	COSM726222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21805857T>C	NCI-TCGA Cosmic
MAPK1	P28482	p.Leu163Val	rs1209985542	missense variant	-	NC_000022.11:g.21805855G>C	gnomAD
MAPK1	P28482	p.Asp167Gly	COSM3424058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21799121T>C	NCI-TCGA Cosmic
MAPK1	P28482	p.Pro176Ser	COSM3552429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21799095G>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Asp177Asn	rs746109073	missense variant	-	NC_000022.11:g.21799092C>T	ExAC,gnomAD
MAPK1	P28482	p.Asp179Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21799085T>C	NCI-TCGA
MAPK1	P28482	p.His180Leu	rs1282657018	missense variant	-	NC_000022.11:g.21799082T>A	TOPMed
MAPK1	P28482	p.Ala189Thr	rs1210556853	missense variant	-	NC_000022.11:g.21799056C>T	TOPMed
MAPK1	P28482	p.Arg191His	COSM215856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21799049C>T	NCI-TCGA Cosmic
MAPK1	P28482	p.Arg191Cys	COSM3783535	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21799050G>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Arg194Thr	rs1347722713	missense variant	-	NC_000022.11:g.21799040C>G	gnomAD
MAPK1	P28482	p.Glu197Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.21799032C>A	NCI-TCGA
MAPK1	P28482	p.Lys203Arg	rs1334266592	missense variant	-	NC_000022.11:g.21799013T>C	gnomAD
MAPK1	P28482	p.Gly204Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21788808C>T	NCI-TCGA
MAPK1	P28482	p.Ile211Thr	rs757159464	missense variant	-	NC_000022.11:g.21788786A>G	ExAC,gnomAD
MAPK1	P28482	p.Ser223Tyr	COSM5145085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21788750G>T	NCI-TCGA Cosmic
MAPK1	P28482	p.Ser223Cys	rs751520333	missense variant	-	NC_000022.11:g.21788750G>C	ExAC,gnomAD
MAPK1	P28482	p.Lys231Arg	rs1387475446	missense variant	-	NC_000022.11:g.21788726T>C	TOPMed
MAPK1	P28482	p.Asp235Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21788714T>C	NCI-TCGA
MAPK1	P28482	p.Asp235Val	COSM6161746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21788714T>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Leu244Phe	COSM2152674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21788383G>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Glu250Asp	rs1019839970	missense variant	-	NC_000022.11:g.21788363T>G	TOPMed,gnomAD
MAPK1	P28482	p.Leu252Met	rs757106100	missense variant	-	NC_000022.11:g.21788359G>T	ExAC,gnomAD
MAPK1	P28482	p.Asn253Ser	rs751468991	missense variant	-	NC_000022.11:g.21788355T>C	ExAC,gnomAD
MAPK1	P28482	p.Ile255Val	rs375334289	missense variant	-	NC_000022.11:g.21788350T>C	ESP,TOPMed,gnomAD
MAPK1	P28482	p.Asn257Ser	COSM3405536	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21788343T>C	NCI-TCGA Cosmic
MAPK1	P28482	p.Leu258Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21788341A>C	NCI-TCGA
MAPK1	P28482	p.Leu258Ile	rs758368449	missense variant	-	NC_000022.11:g.21788341A>T	ExAC,gnomAD
MAPK1	P28482	p.Asn262Thr	COSM282659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21788328T>G	NCI-TCGA Cosmic
MAPK1	P28482	p.Tyr263Cys	COSM3972874	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21788325T>C	NCI-TCGA Cosmic
MAPK1	P28482	p.Asn271Asp	rs1398062479	missense variant	-	NC_000022.11:g.21788302T>C	TOPMed
MAPK1	P28482	p.Pro280Ser	rs767782641	missense variant	-	NC_000022.11:g.21788275G>A	ExAC,gnomAD
MAPK1	P28482	p.Pro280Ala	rs767782641	missense variant	-	NC_000022.11:g.21788275G>C	ExAC,gnomAD
MAPK1	P28482	p.Ser284Pro	rs762158416	missense variant	-	NC_000022.11:g.21788263A>G	ExAC,gnomAD
MAPK1	P28482	p.Lys285Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21788259T>G	NCI-TCGA
MAPK1	P28482	p.Lys285Asn	rs1368414854	missense variant	-	NC_000022.11:g.21788258T>A	TOPMed
MAPK1	P28482	p.Leu290Val	rs147414870	missense variant	-	NC_000022.11:g.21772971A>C	ESP,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Lys292Gln	rs142890870	missense variant	-	NC_000022.11:g.21772965T>G	ESP
MAPK1	P28482	p.Asn297Ser	rs1289443802	missense variant	-	NC_000022.11:g.21772949T>C	gnomAD
MAPK1	P28482	p.Pro298Ala	rs1406012731	missense variant	-	NC_000022.11:g.21772947G>C	TOPMed
MAPK1	P28482	p.His299Asn	rs1156690178	missense variant	-	NC_000022.11:g.21772944G>T	gnomAD
MAPK1	P28482	p.Lys300Arg	rs1412049449	missense variant	-	NC_000022.11:g.21772940T>C	gnomAD
MAPK1	P28482	p.Ile302Thr	rs776295601	missense variant	-	NC_000022.11:g.21772934A>G	ExAC,gnomAD
MAPK1	P28482	p.Ala307Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21772920C>A	NCI-TCGA
MAPK1	P28482	p.Ala309Thr	rs1156943906	missense variant	-	NC_000022.11:g.21772914C>T	gnomAD
MAPK1	P28482	p.Ala309Gly	rs1400349762	missense variant	-	NC_000022.11:g.21772913G>C	gnomAD
MAPK1	P28482	p.Tyr316Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21772892T>C	NCI-TCGA
MAPK1	P28482	p.Tyr316Phe	COSM1291220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21772892T>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Tyr317Cys	rs1159689278	missense variant	-	NC_000022.11:g.21772889T>C	gnomAD
MAPK1	P28482	p.Pro319Ser	COSM3552427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21772884G>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Asp321Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21772876G>C	NCI-TCGA
MAPK1	P28482	p.Asp321Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.21772877T>C	NCI-TCGA
MAPK1	P28482	p.Asp321Asn	COSM98175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21772878C>T	NCI-TCGA Cosmic
MAPK1	P28482	p.Glu322Lys	rs1057519911	missense variant	-	NC_000022.11:g.21772875C>T	-
MAPK1	P28482	p.Glu322Lys	RCV000424324	missense variant	Uterine cervical neoplasms	NC_000022.11:g.21772875C>T	ClinVar
MAPK1	P28482	p.Glu322Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.21772875C>A	NCI-TCGA
MAPK1	P28482	p.Glu322Lys	RCV000442294	missense variant	-	NC_000022.11:g.21772875C>T	ClinVar
MAPK1	P28482	p.Glu322Lys	RCV000433293	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000022.11:g.21772875C>T	ClinVar
MAPK1	P28482	p.Ala325Thr	rs554673521	missense variant	-	NC_000022.11:g.21769314C>T	1000Genomes,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Ala327Ser	rs749195559	missense variant	-	NC_000022.11:g.21769308C>A	ExAC,gnomAD
MAPK1	P28482	p.Pro328Ser	rs1265234526	missense variant	-	NC_000022.11:g.21769305G>A	gnomAD
MAPK1	P28482	p.Asp332Asn	rs747124623	missense variant	-	NC_000022.11:g.21769293C>T	ExAC,gnomAD
MAPK1	P28482	p.Met333Ile	COSM5151204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.21769288C>T	NCI-TCGA Cosmic
MAPK1	P28482	p.Glu345Ter	COSM1032479	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.21769254C>A	NCI-TCGA Cosmic
MAPK1	P28482	p.Glu350Lys	rs1438987796	missense variant	-	NC_000022.11:g.21769239C>T	gnomAD
MAPK1	P28482	p.Ala352Ser	rs1390282714	missense variant	-	NC_000022.11:g.21769233C>A	gnomAD
MAPK1	P28482	p.Ala352Thr	rs1390282714	missense variant	-	NC_000022.11:g.21769233C>T	gnomAD
MAPK1	P28482	p.Gln355Leu	rs755433157	missense variant	-	NC_000022.11:g.21769223T>A	ExAC,gnomAD
MAPK1	P28482	p.Ser360Tyr	rs767047236	missense variant	-	NC_000022.11:g.21769208G>T	ExAC,gnomAD
MAPK1	P28482	p.Ala3Glu	rs1378179068	missense variant	-	NC_000022.11:g.21867433G>T	TOPMed
MAPK1	P28482	p.Ala5Val	rs1282708145	missense variant	-	NC_000022.11:g.21867427G>A	TOPMed
MAPK1	P28482	p.Ala5Gly	rs1282708145	missense variant	-	NC_000022.11:g.21867427G>C	TOPMed
MAPK1	P28482	p.Pro11Leu	rs1165567498	missense variant	-	NC_000022.11:g.21867409G>A	TOPMed
MAPK1	P28482	p.Pro11Ala	rs977423767	missense variant	-	NC_000022.11:g.21867410G>C	TOPMed
MAPK1	P28482	p.Val14Ile	rs1349430059	missense variant	-	NC_000022.11:g.21867401C>T	TOPMed
MAPK1	P28482	p.Gly16Trp	rs1213398032	missense variant	-	NC_000022.11:g.21867395C>A	gnomAD
MAPK1	P28482	p.Gln17Lys	rs1333567613	missense variant	-	NC_000022.11:g.21867392G>T	TOPMed
MAPK1	P28482	p.Val18Leu	rs768479151	missense variant	-	NC_000022.11:g.21867389C>A	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Val18Leu	rs768479151	missense variant	-	NC_000022.11:g.21867389C>G	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Thr26Ala	rs1293681277	missense variant	-	NC_000022.11:g.21867365T>C	gnomAD
MAPK1	P28482	p.Tyr43Asn	rs758481470	missense variant	-	NC_000022.11:g.21807839A>T	ExAC
MAPK1	P28482	p.Asp44Tyr	rs779189994	missense variant	-	NC_000022.11:g.21807836C>A	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Asp44Asn	rs779189994	missense variant	-	NC_000022.11:g.21807836C>T	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Asn45Ser	rs1008537544	missense variant	-	NC_000022.11:g.21807832T>C	TOPMed
MAPK1	P28482	p.Asn47Asp	rs755253671	missense variant	-	NC_000022.11:g.21807827T>C	ExAC,gnomAD
MAPK1	P28482	p.Arg50Gln	rs754193785	missense variant	-	NC_000022.11:g.21807817C>T	ExAC,gnomAD
MAPK1	P28482	p.His61Pro	rs1459279170	missense variant	-	NC_000022.11:g.21807784T>G	TOPMed
MAPK1	P28482	p.Cys65Ser	rs756644901	missense variant	-	NC_000022.11:g.21807773A>T	ExAC
MAPK1	P28482	p.Ile72Val	rs1035981670	missense variant	-	NC_000022.11:g.21807752T>C	TOPMed
MAPK1	P28482	p.Leu76Val	rs761386086	missense variant	-	NC_000022.11:g.21807740G>C	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Arg77Gly	rs1330050442	missense variant	-	NC_000022.11:g.21807737G>C	gnomAD
MAPK1	P28482	p.Asn87Ser	rs1163552201	missense variant	-	NC_000022.11:g.21807706T>C	TOPMed
MAPK1	P28482	p.Thr94Ala	rs202041676	missense variant	-	NC_000022.11:g.21807686T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Thr94Ile	rs141978504	missense variant	-	NC_000022.11:g.21807685G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Ile95Val	rs1396992418	missense variant	-	NC_000022.11:g.21807683T>C	gnomAD
MAPK1	P28482	p.Glu96Lys	rs530183395	missense variant	-	NC_000022.11:g.21807680C>T	1000Genomes,ExAC,gnomAD
MAPK1	P28482	p.Glu96Gln	rs530183395	missense variant	-	NC_000022.11:g.21807680C>G	1000Genomes,ExAC,gnomAD
MAPK1	P28482	p.Gln97His	rs146182599	missense variant	-	NC_000022.11:g.21807675T>G	ESP,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Asp106Gly	rs368100872	missense variant	-	NC_000022.11:g.21806025T>C	ESP,ExAC,gnomAD
MAPK1	P28482	p.Tyr113Ter	rs1284302844	stop gained	-	NC_000022.11:g.21806003G>C	TOPMed,gnomAD
MAPK1	P28482	p.Tyr128His	rs1234816629	missense variant	-	NC_000022.11:g.21805960A>G	TOPMed
MAPK1	P28482	p.Ile133Val	rs1453621955	missense variant	-	NC_000022.11:g.21805945T>C	gnomAD
MAPK1	P28482	p.Arg135Thr	rs797044892	missense variant	-	NC_000022.11:g.21805938C>G	-
MAPK1	P28482	p.Arg135Thr	RCV000190714	missense variant	Inborn genetic diseases	NC_000022.11:g.21805938C>G	ClinVar
MAPK1	P28482	p.Arg148His	rs749425404	missense variant	-	NC_000022.11:g.21805899C>T	ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Leu157Phe	rs1166008722	missense variant	-	NC_000022.11:g.21805873G>A	TOPMed
MAPK1	P28482	p.Leu163Val	rs1209985542	missense variant	-	NC_000022.11:g.21805855G>C	gnomAD
MAPK1	P28482	p.Asp177Asn	rs746109073	missense variant	-	NC_000022.11:g.21799092C>T	ExAC,gnomAD
MAPK1	P28482	p.His180Leu	rs1282657018	missense variant	-	NC_000022.11:g.21799082T>A	TOPMed
MAPK1	P28482	p.Ala189Thr	rs1210556853	missense variant	-	NC_000022.11:g.21799056C>T	TOPMed
MAPK1	P28482	p.Arg194Thr	rs1347722713	missense variant	-	NC_000022.11:g.21799040C>G	gnomAD
MAPK1	P28482	p.Lys203Arg	rs1334266592	missense variant	-	NC_000022.11:g.21799013T>C	gnomAD
MAPK1	P28482	p.Ile211Thr	rs757159464	missense variant	-	NC_000022.11:g.21788786A>G	ExAC,gnomAD
MAPK1	P28482	p.Ser223Cys	rs751520333	missense variant	-	NC_000022.11:g.21788750G>C	ExAC,gnomAD
MAPK1	P28482	p.Lys231Arg	rs1387475446	missense variant	-	NC_000022.11:g.21788726T>C	TOPMed
MAPK1	P28482	p.Glu250Asp	rs1019839970	missense variant	-	NC_000022.11:g.21788363T>G	TOPMed,gnomAD
MAPK1	P28482	p.Leu252Met	rs757106100	missense variant	-	NC_000022.11:g.21788359G>T	ExAC,gnomAD
MAPK1	P28482	p.Asn253Ser	rs751468991	missense variant	-	NC_000022.11:g.21788355T>C	ExAC,gnomAD
MAPK1	P28482	p.Ile255Val	rs375334289	missense variant	-	NC_000022.11:g.21788350T>C	ESP,TOPMed,gnomAD
MAPK1	P28482	p.Leu258Ile	rs758368449	missense variant	-	NC_000022.11:g.21788341A>T	ExAC,gnomAD
MAPK1	P28482	p.Asn271Asp	rs1398062479	missense variant	-	NC_000022.11:g.21788302T>C	TOPMed
MAPK1	P28482	p.Pro280Ser	rs767782641	missense variant	-	NC_000022.11:g.21788275G>A	ExAC,gnomAD
MAPK1	P28482	p.Pro280Ala	rs767782641	missense variant	-	NC_000022.11:g.21788275G>C	ExAC,gnomAD
MAPK1	P28482	p.Ser284Pro	rs762158416	missense variant	-	NC_000022.11:g.21788263A>G	ExAC,gnomAD
MAPK1	P28482	p.Lys285Asn	rs1368414854	missense variant	-	NC_000022.11:g.21788258T>A	TOPMed
MAPK1	P28482	p.Leu290Val	rs147414870	missense variant	-	NC_000022.11:g.21772971A>C	ESP,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Lys292Gln	rs142890870	missense variant	-	NC_000022.11:g.21772965T>G	ESP
MAPK1	P28482	p.Asn297Ser	rs1289443802	missense variant	-	NC_000022.11:g.21772949T>C	gnomAD
MAPK1	P28482	p.Pro298Ala	rs1406012731	missense variant	-	NC_000022.11:g.21772947G>C	TOPMed
MAPK1	P28482	p.His299Asn	rs1156690178	missense variant	-	NC_000022.11:g.21772944G>T	gnomAD
MAPK1	P28482	p.Lys300Arg	rs1412049449	missense variant	-	NC_000022.11:g.21772940T>C	gnomAD
MAPK1	P28482	p.Ile302Thr	rs776295601	missense variant	-	NC_000022.11:g.21772934A>G	ExAC,gnomAD
MAPK1	P28482	p.Ala309Gly	rs1400349762	missense variant	-	NC_000022.11:g.21772913G>C	gnomAD
MAPK1	P28482	p.Ala309Thr	rs1156943906	missense variant	-	NC_000022.11:g.21772914C>T	gnomAD
MAPK1	P28482	p.Tyr317Cys	rs1159689278	missense variant	-	NC_000022.11:g.21772889T>C	gnomAD
MAPK1	P28482	p.Glu322Lys	RCV000433293	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000022.11:g.21772875C>T	ClinVar
MAPK1	P28482	p.Glu322Lys	rs1057519911	missense variant	-	NC_000022.11:g.21772875C>T	-
MAPK1	P28482	p.Glu322Lys	RCV000424324	missense variant	Uterine cervical neoplasms	NC_000022.11:g.21772875C>T	ClinVar
MAPK1	P28482	p.Glu322Lys	RCV000442294	missense variant	-	NC_000022.11:g.21772875C>T	ClinVar
MAPK1	P28482	p.Ala325Thr	rs554673521	missense variant	-	NC_000022.11:g.21769314C>T	1000Genomes,ExAC,TOPMed,gnomAD
MAPK1	P28482	p.Ala327Ser	rs749195559	missense variant	-	NC_000022.11:g.21769308C>A	ExAC,gnomAD
MAPK1	P28482	p.Pro328Ser	rs1265234526	missense variant	-	NC_000022.11:g.21769305G>A	gnomAD
MAPK1	P28482	p.Asp332Asn	rs747124623	missense variant	-	NC_000022.11:g.21769293C>T	ExAC,gnomAD
MAPK1	P28482	p.Glu350Lys	rs1438987796	missense variant	-	NC_000022.11:g.21769239C>T	gnomAD
MAPK1	P28482	p.Ala352Ser	rs1390282714	missense variant	-	NC_000022.11:g.21769233C>A	gnomAD
MAPK1	P28482	p.Ala352Thr	rs1390282714	missense variant	-	NC_000022.11:g.21769233C>T	gnomAD
MAPK1	P28482	p.Gln355Leu	rs755433157	missense variant	-	NC_000022.11:g.21769223T>A	ExAC,gnomAD
MAPK1	P28482	p.Ser360Tyr	rs767047236	missense variant	-	NC_000022.11:g.21769208G>T	ExAC,gnomAD
CCN2	P29279	p.Ala4Thr	rs1046152495	missense variant	-	NC_000006.12:g.131951163C>T	TOPMed,gnomAD
CCN2	P29279	p.Ala4Ser	rs1046152495	missense variant	-	NC_000006.12:g.131951163C>A	TOPMed,gnomAD
CCN2	P29279	p.Met6Val	rs1475978750	missense variant	-	NC_000006.12:g.131951157T>C	gnomAD
CCN2	P29279	p.Gly7Ser	rs1377436829	missense variant	-	NC_000006.12:g.131951154C>T	gnomAD
CCN2	P29279	p.Val9Ile	rs771454878	missense variant	-	NC_000006.12:g.131951148C>T	ExAC,gnomAD
CCN2	P29279	p.Arg10Cys	rs1470016991	missense variant	-	NC_000006.12:g.131951145G>A	TOPMed,gnomAD
CCN2	P29279	p.Val15Ile	rs747737409	missense variant	-	NC_000006.12:g.131951130C>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Val15Ala	rs1435972521	missense variant	-	NC_000006.12:g.131951129A>G	TOPMed,gnomAD
CCN2	P29279	p.Leu17Ile	rs894933526	missense variant	-	NC_000006.12:g.131951124G>T	TOPMed,gnomAD
CCN2	P29279	p.Ala18Val	rs1054975818	missense variant	-	NC_000006.12:g.131951120G>A	TOPMed,gnomAD
CCN2	P29279	p.Cys20Gly	rs936577744	missense variant	-	NC_000006.12:g.131951115A>C	TOPMed
CCN2	P29279	p.Cys20Tyr	rs1301024616	missense variant	-	NC_000006.12:g.131951114C>T	gnomAD
CCN2	P29279	p.Cys20Arg	rs936577744	missense variant	-	NC_000006.12:g.131951115A>G	TOPMed
CCN2	P29279	p.Ser21Asn	rs866471933	missense variant	-	NC_000006.12:g.131951111C>T	TOPMed
CCN2	P29279	p.Ser21Ile	rs866471933	missense variant	-	NC_000006.12:g.131951111C>A	TOPMed
CCN2	P29279	p.Ser21Arg	rs1371343788	missense variant	-	NC_000006.12:g.131951112T>G	gnomAD
CCN2	P29279	p.Arg22Gln	rs1307860560	missense variant	-	NC_000006.12:g.131951108C>T	gnomAD
CCN2	P29279	p.Pro23Leu	rs1405926925	missense variant	-	NC_000006.12:g.131950991G>A	TOPMed,gnomAD
CCN2	P29279	p.Gln27Arg	rs530485396	missense variant	-	NC_000006.12:g.131950979T>C	1000Genomes,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Ser30Arg	rs375793270	missense variant	-	NC_000006.12:g.131950969G>T	TOPMed,gnomAD
CCN2	P29279	p.Ser30Arg	rs375793270	missense variant	-	NC_000006.12:g.131950969G>C	TOPMed,gnomAD
CCN2	P29279	p.Ser30Gly	rs1245891260	missense variant	-	NC_000006.12:g.131950971T>C	TOPMed
CCN2	P29279	p.Gly31Trp	rs1232637209	missense variant	-	NC_000006.12:g.131950968C>A	TOPMed
CCN2	P29279	p.Arg34Gln	rs563027002	missense variant	-	NC_000006.12:g.131950958C>T	1000Genomes,TOPMed,gnomAD
CCN2	P29279	p.Arg34Leu	rs563027002	missense variant	-	NC_000006.12:g.131950958C>A	1000Genomes,TOPMed,gnomAD
CCN2	P29279	p.Pro36Leu	rs961009845	missense variant	-	NC_000006.12:g.131950952G>A	TOPMed
CCN2	P29279	p.Pro36Ser	rs532271775	missense variant	-	NC_000006.12:g.131950953G>A	1000Genomes,ExAC,gnomAD
CCN2	P29279	p.Pro36Arg	rs961009845	missense variant	-	NC_000006.12:g.131950952G>C	TOPMed
CCN2	P29279	p.Asp37Gly	rs1038619364	missense variant	-	NC_000006.12:g.131950949T>C	TOPMed,gnomAD
CCN2	P29279	p.Asp37Asn	rs1158575008	missense variant	-	NC_000006.12:g.131950950C>T	gnomAD
CCN2	P29279	p.Asp37Glu	rs754049250	missense variant	-	NC_000006.12:g.131950948G>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asp37Glu	rs754049250	missense variant	-	NC_000006.12:g.131950948G>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Glu38Lys	rs1013718997	missense variant	-	NC_000006.12:g.131950947C>T	TOPMed,gnomAD
CCN2	P29279	p.Pro39Ser	rs1352520657	missense variant	-	NC_000006.12:g.131950944G>A	TOPMed
CCN2	P29279	p.Pro41Leu	rs1472409252	missense variant	-	NC_000006.12:g.131950937G>A	TOPMed,gnomAD
CCN2	P29279	p.Arg42His	rs1255400952	missense variant	-	NC_000006.12:g.131950934C>T	gnomAD
CCN2	P29279	p.Arg42Cys	rs13212409	missense variant	-	NC_000006.12:g.131950935G>A	TOPMed
CCN2	P29279	p.Cys43Trp	rs1189784188	missense variant	-	NC_000006.12:g.131950930G>C	gnomAD
CCN2	P29279	p.Pro44Thr	rs894929214	missense variant	-	NC_000006.12:g.131950929G>T	TOPMed
CCN2	P29279	p.Pro44Leu	rs1451944599	missense variant	-	NC_000006.12:g.131950928G>A	TOPMed
CCN2	P29279	p.Ala45Val	rs1285048164	missense variant	-	NC_000006.12:g.131950925G>A	TOPMed,gnomAD
CCN2	P29279	p.Gly46Asp	rs1213162662	missense variant	-	NC_000006.12:g.131950922C>T	gnomAD
CCN2	P29279	p.Leu49Phe	rs1284317067	missense variant	-	NC_000006.12:g.131950914G>A	TOPMed,gnomAD
CCN2	P29279	p.Val50Ala	rs1334757394	missense variant	-	NC_000006.12:g.131950910A>G	gnomAD
CCN2	P29279	p.Asp52Glu	rs577763812	missense variant	-	NC_000006.12:g.131950903G>C	1000Genomes,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Gly53Asp	rs1288681557	missense variant	-	NC_000006.12:g.131950901C>T	gnomAD
CCN2	P29279	p.Gly53Arg	rs1356462790	missense variant	-	NC_000006.12:g.131950902C>G	TOPMed,gnomAD
CCN2	P29279	p.Cys54Ter	rs1256160317	stop gained	-	NC_000006.12:g.131950897G>T	TOPMed
CCN2	P29279	p.Gly55Ser	rs1428867855	missense variant	-	NC_000006.12:g.131950896C>T	gnomAD
CCN2	P29279	p.Cys56Tyr	rs887245529	missense variant	-	NC_000006.12:g.131950892C>T	TOPMed,gnomAD
CCN2	P29279	p.Cys56Ser	rs887245529	missense variant	-	NC_000006.12:g.131950892C>G	TOPMed,gnomAD
CCN2	P29279	p.Cys57Ser	rs1461041423	missense variant	-	NC_000006.12:g.131950890A>T	gnomAD
CCN2	P29279	p.Arg58Cys	rs111779788	missense variant	-	NC_000006.12:g.131950887G>A	1000Genomes,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Arg58Gly	rs111779788	missense variant	-	NC_000006.12:g.131950887G>C	1000Genomes,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Val59Ile	rs1475512451	missense variant	-	NC_000006.12:g.131950884C>T	gnomAD
CCN2	P29279	p.Val59Leu	rs1475512451	missense variant	-	NC_000006.12:g.131950884C>G	gnomAD
CCN2	P29279	p.Ala61Thr	rs1260715722	missense variant	-	NC_000006.12:g.131950878C>T	gnomAD
CCN2	P29279	p.Lys62Gln	rs1185846352	missense variant	-	NC_000006.12:g.131950875T>G	TOPMed
CCN2	P29279	p.Gln63Glu	rs1242405632	missense variant	-	NC_000006.12:g.131950872G>C	gnomAD
CCN2	P29279	p.Leu64Met	rs1220165793	missense variant	-	NC_000006.12:g.131950869G>T	gnomAD
CCN2	P29279	p.Gly65Asp	rs1331949021	missense variant	-	NC_000006.12:g.131950865C>T	gnomAD
CCN2	P29279	p.Glu66Asp	rs1274542744	missense variant	-	NC_000006.12:g.131950861C>G	gnomAD
CCN2	P29279	p.Leu67Pro	rs1235633404	missense variant	-	NC_000006.12:g.131950859A>G	gnomAD
CCN2	P29279	p.Leu67Val	rs771364910	missense variant	-	NC_000006.12:g.131950860G>C	ExAC
CCN2	P29279	p.Glu70Gln	rs1295271748	missense variant	-	NC_000006.12:g.131950851C>G	TOPMed,gnomAD
CCN2	P29279	p.Glu70Asp	rs780986630	missense variant	-	NC_000006.12:g.131950849C>G	ExAC,gnomAD
CCN2	P29279	p.Glu70Asp	rs780986630	missense variant	-	NC_000006.12:g.131950849C>A	ExAC,gnomAD
CCN2	P29279	p.Glu70Lys	rs1295271748	missense variant	-	NC_000006.12:g.131950851C>T	TOPMed,gnomAD
CCN2	P29279	p.Glu70Gly	rs749727188	missense variant	-	NC_000006.12:g.131950850T>C	ExAC
CCN2	P29279	p.Arg71His	rs1289608424	missense variant	-	NC_000006.12:g.131950847C>T	TOPMed,gnomAD
CCN2	P29279	p.Arg71Ser	rs768393319	missense variant	-	NC_000006.12:g.131950848G>T	ExAC,gnomAD
CCN2	P29279	p.Arg71Cys	rs768393319	missense variant	-	NC_000006.12:g.131950848G>A	ExAC,gnomAD
CCN2	P29279	p.Asp72Tyr	rs1392325444	missense variant	-	NC_000006.12:g.131950845C>A	gnomAD
CCN2	P29279	p.Asp72His	rs1392325444	missense variant	-	NC_000006.12:g.131950845C>G	gnomAD
CCN2	P29279	p.Asp75Tyr	rs757875277	missense variant	-	NC_000006.12:g.131950836C>A	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asp75Glu	rs1430141143	missense variant	-	NC_000006.12:g.131950834G>T	gnomAD
CCN2	P29279	p.Asp75Asn	rs757875277	missense variant	-	NC_000006.12:g.131950836C>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Pro76Leu	rs778832399	missense variant	-	NC_000006.12:g.131950832G>A	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Pro76Ser	rs750290405	missense variant	-	NC_000006.12:g.131950833G>A	ExAC
CCN2	P29279	p.Lys78Thr	rs764203876	missense variant	-	NC_000006.12:g.131950826T>G	ExAC,gnomAD
CCN2	P29279	p.Lys78Gln	rs753677977	missense variant	-	NC_000006.12:g.131950827T>G	ExAC
CCN2	P29279	p.Lys78Asn	rs1213818204	missense variant	-	NC_000006.12:g.131950825C>A	gnomAD
CCN2	P29279	p.Gly79Ala	rs934031221	missense variant	-	NC_000006.12:g.131950823C>G	TOPMed,gnomAD
CCN2	P29279	p.Gly79Ser	rs752896023	missense variant	-	NC_000006.12:g.131950824C>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Gly79Cys	rs752896023	missense variant	-	NC_000006.12:g.131950824C>A	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Leu80Pro	rs759549246	missense variant	-	NC_000006.12:g.131950820A>G	ExAC,gnomAD
CCN2	P29279	p.Leu80Gln	rs759549246	missense variant	-	NC_000006.12:g.131950820A>T	ExAC,gnomAD
CCN2	P29279	p.Leu80Ile	rs767569105	missense variant	-	NC_000006.12:g.131950821G>T	ExAC,gnomAD
CCN2	P29279	p.Phe81Leu	rs1369115003	missense variant	-	NC_000006.12:g.131950818A>G	gnomAD
CCN2	P29279	p.Phe81Leu	rs763378768	missense variant	-	NC_000006.12:g.131950816G>T	ExAC,gnomAD
CCN2	P29279	p.Phe81Cys	rs767059535	missense variant	-	NC_000006.12:g.131950817A>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Cys82Phe	rs773759696	missense variant	-	NC_000006.12:g.131950814C>A	ExAC,gnomAD
CCN2	P29279	p.Cys82Tyr	rs773759696	missense variant	-	NC_000006.12:g.131950814C>T	ExAC,gnomAD
CCN2	P29279	p.His83Pro	rs1463464110	missense variant	-	NC_000006.12:g.131950811T>G	TOPMed,gnomAD
CCN2	P29279	p.His83Gln	rs746630581	missense variant	-	NC_000006.12:g.131950810G>T	ExAC,gnomAD
CCN2	P29279	p.His83Arg	rs1463464110	missense variant	-	NC_000006.12:g.131950811T>C	TOPMed,gnomAD
CCN2	P29279	p.His83Asp	rs7451102	missense variant	-	NC_000006.12:g.131950812G>C	1000Genomes,ExAC,TOPMed,gnomAD
CCN2	P29279	p.His83Asp	rs7451102	missense variant	-	NC_000006.12:g.131950812G>C	UniProt,dbSNP
CCN2	P29279	p.His83Asp	VAR_027925	missense variant	-	NC_000006.12:g.131950812G>C	UniProt
CCN2	P29279	p.His83Tyr	rs7451102	missense variant	-	NC_000006.12:g.131950812G>A	1000Genomes,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Phe84Leu	rs775008083	missense variant	-	NC_000006.12:g.131950809A>G	ExAC
CCN2	P29279	p.Gly85Val	rs749248801	missense variant	-	NC_000006.12:g.131950805C>A	ExAC,gnomAD
CCN2	P29279	p.Gly85Asp	rs749248801	missense variant	-	NC_000006.12:g.131950805C>T	ExAC,gnomAD
CCN2	P29279	p.Gly85Cys	rs778795621	missense variant	-	NC_000006.12:g.131950806C>A	ExAC,gnomAD
CCN2	P29279	p.Gly85Ser	rs778795621	missense variant	-	NC_000006.12:g.131950806C>T	ExAC,gnomAD
CCN2	P29279	p.Ser86Tyr	rs752906843	missense variant	-	NC_000006.12:g.131950802G>T	ExAC,gnomAD
CCN2	P29279	p.Ser86Thr	rs755868110	missense variant	-	NC_000006.12:g.131950803A>T	ExAC
CCN2	P29279	p.Ser86Phe	rs752906843	missense variant	-	NC_000006.12:g.131950802G>A	ExAC,gnomAD
CCN2	P29279	p.Pro87Gln	rs767690353	missense variant	-	NC_000006.12:g.131950799G>T	ExAC,gnomAD
CCN2	P29279	p.Pro87Leu	rs767690353	missense variant	-	NC_000006.12:g.131950799G>A	ExAC,gnomAD
CCN2	P29279	p.Ala88Gly	rs751729070	missense variant	-	NC_000006.12:g.131950796G>C	ExAC
CCN2	P29279	p.Ala88Thr	rs755104088	missense variant	-	NC_000006.12:g.131950797C>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asn89Ser	rs1481919013	missense variant	-	NC_000006.12:g.131950793T>C	gnomAD
CCN2	P29279	p.Arg90Cys	rs944116755	missense variant	-	NC_000006.12:g.131950791G>A	gnomAD
CCN2	P29279	p.Arg90His	rs867106833	missense variant	-	NC_000006.12:g.131950790C>T	gnomAD
CCN2	P29279	p.Val94Met	rs1335174629	missense variant	-	NC_000006.12:g.131950779C>T	gnomAD
CCN2	P29279	p.Ala97Thr	rs372597924	missense variant	-	NC_000006.12:g.131950770C>T	ESP,TOPMed
CCN2	P29279	p.Ala97Gly	rs1336918485	missense variant	-	NC_000006.12:g.131950543G>C	gnomAD
CCN2	P29279	p.Ala97Ser	rs372597924	missense variant	-	NC_000006.12:g.131950770C>A	ESP,TOPMed
CCN2	P29279	p.Lys98Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131950541T>C	NCI-TCGA
CCN2	P29279	p.Gly100Ser	rs1284536513	missense variant	-	NC_000006.12:g.131950535C>T	gnomAD
CCN2	P29279	p.Pro102Ser	rs562990573	missense variant	-	NC_000006.12:g.131950529G>A	1000Genomes,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Ile104Val	rs747157794	missense variant	-	NC_000006.12:g.131950523T>C	ExAC,gnomAD
CCN2	P29279	p.Gly106Ser	rs148642894	missense variant	-	NC_000006.12:g.131950517C>T	ESP,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Gly106Asp	rs1403859168	missense variant	-	NC_000006.12:g.131950516C>T	TOPMed
CCN2	P29279	p.Gly107Ser	rs1323332598	missense variant	-	NC_000006.12:g.131950514C>T	gnomAD
CCN2	P29279	p.Thr108Met	rs758537392	missense variant	-	NC_000006.12:g.131950510G>A	ExAC,gnomAD
CCN2	P29279	p.Tyr110His	rs750532772	missense variant	-	NC_000006.12:g.131950505A>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Arg111His	rs779456819	missense variant	-	NC_000006.12:g.131950501C>T	ExAC,gnomAD
CCN2	P29279	p.Gly113Arg	rs1371705903	missense variant	-	NC_000006.12:g.131950496C>T	gnomAD
CCN2	P29279	p.Ser115Phe	rs754404946	missense variant	-	NC_000006.12:g.131950489G>A	ExAC,TOPMed
CCN2	P29279	p.Ser115Thr	rs757658730	missense variant	-	NC_000006.12:g.131950490A>T	ExAC,gnomAD
CCN2	P29279	p.Phe116Cys	rs962442276	missense variant	-	NC_000006.12:g.131950486A>C	TOPMed,gnomAD
CCN2	P29279	p.Gln117Ter	rs764378587	stop gained	-	NC_000006.12:g.131950484G>A	ExAC,gnomAD
CCN2	P29279	p.Ser118Asn	rs34385143	missense variant	-	NC_000006.12:g.131950480C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Gly129Arg	rs1271743207	missense variant	-	NC_000006.12:g.131950448C>T	gnomAD
CCN2	P29279	p.Ala130Thr	rs772644537	missense variant	-	NC_000006.12:g.131950445C>T	ExAC,gnomAD
CCN2	P29279	p.Val131Leu	rs776713121	missense variant	-	NC_000006.12:g.131950442C>A	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Val131Met	rs776713121	missense variant	-	NC_000006.12:g.131950442C>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Val131Leu	rs776713121	missense variant	-	NC_000006.12:g.131950442C>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Met134Val	rs374374828	missense variant	-	NC_000006.12:g.131950433T>C	ESP,ExAC,gnomAD
CCN2	P29279	p.Met134Lys	rs1324708871	missense variant	-	NC_000006.12:g.131950432A>T	gnomAD
CCN2	P29279	p.Pro135Leu	rs532894409	missense variant	-	NC_000006.12:g.131950429G>A	1000Genomes,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Met139Thr	rs746127819	missense variant	-	NC_000006.12:g.131950417A>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Met139Val	rs772459582	missense variant	-	NC_000006.12:g.131950418T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asp140Glu	rs778822836	missense variant	-	NC_000006.12:g.131950413G>C	ExAC,gnomAD
CCN2	P29279	p.Arg142Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131950409G>T	NCI-TCGA
CCN2	P29279	p.Arg142Cys	rs1480590727	missense variant	-	NC_000006.12:g.131950409G>A	TOPMed
CCN2	P29279	p.Pro146Ser	rs757366447	missense variant	-	NC_000006.12:g.131950397G>A	ExAC,gnomAD
CCN2	P29279	p.Pro146Arg	rs1247364599	missense variant	-	NC_000006.12:g.131950396G>C	gnomAD
CCN2	P29279	p.Asp147Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131950394C>T	NCI-TCGA
CCN2	P29279	p.Pro151Ala	rs778311137	missense variant	-	NC_000006.12:g.131950382G>C	ExAC,gnomAD
CCN2	P29279	p.Arg153Lys	rs756468635	missense variant	-	NC_000006.12:g.131950375C>T	ExAC,gnomAD
CCN2	P29279	p.Val154Ala	rs1205694127	missense variant	-	NC_000006.12:g.131950372A>G	gnomAD
CCN2	P29279	p.Lys155Asn	rs1458305011	missense variant	-	NC_000006.12:g.131950368C>G	TOPMed
CCN2	P29279	p.Cys160Tyr	rs1367648684	missense variant	-	NC_000006.12:g.131950354C>T	gnomAD
CCN2	P29279	p.Glu162Lys	rs959044702	missense variant	-	NC_000006.12:g.131950349C>T	TOPMed,gnomAD
CCN2	P29279	p.Glu162Gln	rs959044702	missense variant	-	NC_000006.12:g.131950349C>G	TOPMed,gnomAD
CCN2	P29279	p.Val165Met	rs757936868	missense variant	-	NC_000006.12:g.131950340C>T	ExAC,gnomAD
CCN2	P29279	p.Val165Leu	rs757936868	missense variant	-	NC_000006.12:g.131950340C>G	ExAC,gnomAD
CCN2	P29279	p.Val165Leu	rs757936868	missense variant	-	NC_000006.12:g.131950340C>A	ExAC,gnomAD
CCN2	P29279	p.Asp167Glu	rs139453995	missense variant	-	NC_000006.12:g.131950332G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Glu168Asp	rs761396200	missense variant	-	NC_000006.12:g.131950329C>A	ExAC,gnomAD
CCN2	P29279	p.Lys170Arg	rs776692409	missense variant	-	NC_000006.12:g.131950324T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asp171His	rs1171937033	missense variant	-	NC_000006.12:g.131950322C>G	gnomAD
CCN2	P29279	p.Gln172Glu	rs764190999	missense variant	-	NC_000006.12:g.131950319G>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Gln172Lys	rs764190999	missense variant	-	NC_000006.12:g.131950319G>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Val174Ala	rs1385005797	missense variant	-	NC_000006.12:g.131950312A>G	TOPMed,gnomAD
CCN2	P29279	p.Val174Met	rs147441296	missense variant	-	NC_000006.12:g.131950313C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Gly176Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131950307C>A	NCI-TCGA
CCN2	P29279	p.Gly176Val	rs1468505692	missense variant	-	NC_000006.12:g.131950306C>A	gnomAD
CCN2	P29279	p.Pro177Leu	rs1000248948	missense variant	-	NC_000006.12:g.131950303G>A	TOPMed
CCN2	P29279	p.Ala180Glu	rs775379193	missense variant	-	NC_000006.12:g.131950294G>T	ExAC,gnomAD
CCN2	P29279	p.Tyr182His	rs759434407	missense variant	-	NC_000006.12:g.131950158A>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Arg183Gln	rs1385269499	missense variant	-	NC_000006.12:g.131950154C>T	TOPMed,gnomAD
CCN2	P29279	p.Leu184Gln	rs1356046175	missense variant	-	NC_000006.12:g.131950151A>T	TOPMed
CCN2	P29279	p.Glu185Gln	COSM1073356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131950149C>G	NCI-TCGA Cosmic
CCN2	P29279	p.Asp186Asn	COSM5599363	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131950146C>T	NCI-TCGA Cosmic
CCN2	P29279	p.Thr187Lys	rs1298892255	missense variant	-	NC_000006.12:g.131950142G>T	TOPMed
CCN2	P29279	p.Phe188Ser	rs1166630038	missense variant	-	NC_000006.12:g.131950139A>G	gnomAD
CCN2	P29279	p.Gly189Ser	rs1424115871	missense variant	-	NC_000006.12:g.131950137C>T	gnomAD
CCN2	P29279	p.Gly189Asp	COSM1440519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131950136C>T	NCI-TCGA Cosmic
CCN2	P29279	p.Asp191Gly	rs200704146	missense variant	-	NC_000006.12:g.131950130T>C	1000Genomes
CCN2	P29279	p.Pro192Thr	rs771227127	missense variant	-	NC_000006.12:g.131950128G>T	ExAC,gnomAD
CCN2	P29279	p.Thr193Ala	rs565153897	missense variant	-	NC_000006.12:g.131950125T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Met194Val	rs1317816082	missense variant	-	NC_000006.12:g.131950122T>C	TOPMed
CCN2	P29279	p.Ile195Val	COSM1440518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131950119T>C	NCI-TCGA Cosmic
CCN2	P29279	p.Arg196SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.131950114_131950115insA	NCI-TCGA
CCN2	P29279	p.Arg196Gly	rs773225479	missense variant	-	NC_000006.12:g.131950116T>C	ExAC,gnomAD
CCN2	P29279	p.Arg196Thr	rs566555616	missense variant	-	NC_000006.12:g.131950115C>G	ExAC,gnomAD
CCN2	P29279	p.Asn198Thr	rs781728789	missense variant	-	NC_000006.12:g.131950109T>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Cys199Phe	rs1313461069	missense variant	-	NC_000006.12:g.131950106C>A	TOPMed
CCN2	P29279	p.Leu200Val	rs1295345031	missense variant	-	NC_000006.12:g.131950104G>C	gnomAD
CCN2	P29279	p.Leu200Pro	rs768886233	missense variant	-	NC_000006.12:g.131950103A>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Gln202Arg	rs1298418697	missense variant	-	NC_000006.12:g.131950097T>C	gnomAD
CCN2	P29279	p.Thr204Arg	rs1440339694	missense variant	-	NC_000006.12:g.131950091G>C	gnomAD
CCN2	P29279	p.Glu205Gly	rs1458375028	missense variant	-	NC_000006.12:g.131950088T>C	gnomAD
CCN2	P29279	p.Ser207Arg	rs1353655888	missense variant	-	NC_000006.12:g.131950083T>G	gnomAD
CCN2	P29279	p.Ser207ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.131950081G>-	NCI-TCGA
CCN2	P29279	p.Ser207Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131950082C>T	NCI-TCGA
CCN2	P29279	p.Ala208Thr	rs187658120	missense variant	-	NC_000006.12:g.131950080C>T	1000Genomes,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Thr212Ala	rs1390472679	missense variant	-	NC_000006.12:g.131950068T>C	gnomAD
CCN2	P29279	p.Cys213Arg	rs777353866	missense variant	-	NC_000006.12:g.131950065A>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Met215Ile	rs142873474	missense variant	-	NC_000006.12:g.131950057C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Met215Thr	rs1198148430	missense variant	-	NC_000006.12:g.131950058A>G	gnomAD
CCN2	P29279	p.Ser218Phe	rs926301210	missense variant	-	NC_000006.12:g.131950049G>A	gnomAD
CCN2	P29279	p.Thr219Asn	rs1193379334	missense variant	-	NC_000006.12:g.131950046G>T	gnomAD
CCN2	P29279	p.Arg220Gln	rs1489124165	missense variant	-	NC_000006.12:g.131950043C>T	gnomAD
CCN2	P29279	p.Val221Ile	rs1202949995	missense variant	-	NC_000006.12:g.131950041C>T	gnomAD
CCN2	P29279	p.Val221Leu	rs1202949995	missense variant	-	NC_000006.12:g.131950041C>G	gnomAD
CCN2	P29279	p.Thr222Ala	rs759220528	missense variant	-	NC_000006.12:g.131950038T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Thr222Asn	COSM1073354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131950037G>T	NCI-TCGA Cosmic
CCN2	P29279	p.Asn223His	rs751421111	missense variant	-	NC_000006.12:g.131950035T>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asp224His	rs766110787	missense variant	-	NC_000006.12:g.131950032C>G	ExAC,gnomAD
CCN2	P29279	p.Ala226Thr	rs1303522975	missense variant	-	NC_000006.12:g.131950026C>T	gnomAD
CCN2	P29279	p.Ala226Val	COSM1073353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131950025G>A	NCI-TCGA Cosmic
CCN2	P29279	p.Ser227Phe	rs1387256435	missense variant	-	NC_000006.12:g.131950022G>A	gnomAD
CCN2	P29279	p.Ser227Tyr	rs1387256435	missense variant	-	NC_000006.12:g.131950022G>T	gnomAD
CCN2	P29279	p.Cys228Phe	rs376817540	missense variant	-	NC_000006.12:g.131950019C>A	ESP,TOPMed
CCN2	P29279	p.Arg229Lys	rs1226369163	missense variant	-	NC_000006.12:g.131950016C>T	gnomAD
CCN2	P29279	p.Glu231Gln	rs1464236501	missense variant	-	NC_000006.12:g.131950011C>G	TOPMed
CCN2	P29279	p.Gln233Lys	rs1361896958	missense variant	-	NC_000006.12:g.131950005G>T	gnomAD
CCN2	P29279	p.Gln233Pro	rs1296234786	missense variant	-	NC_000006.12:g.131950004T>G	gnomAD
CCN2	P29279	p.Ser234Arg	rs1411490974	missense variant	-	NC_000006.12:g.131950000G>T	gnomAD
CCN2	P29279	p.Arg235Cys	rs1370947025	missense variant	-	NC_000006.12:g.131949999G>A	gnomAD
CCN2	P29279	p.Cys237Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949992C>T	NCI-TCGA
CCN2	P29279	p.Met238Val	rs769805883	missense variant	-	NC_000006.12:g.131949990T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Met238Arg	rs1452552929	missense variant	-	NC_000006.12:g.131949989A>C	TOPMed
CCN2	P29279	p.Pro241Ala	rs776995077	missense variant	-	NC_000006.12:g.131949981G>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Pro241Thr	rs776995077	missense variant	-	NC_000006.12:g.131949981G>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Cys242Phe	rs1434255647	missense variant	-	NC_000006.12:g.131949977C>A	gnomAD
CCN2	P29279	p.Glu243Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949975C>T	NCI-TCGA
CCN2	P29279	p.Ala244Thr	rs769241756	missense variant	-	NC_000006.12:g.131949972C>T	ExAC,gnomAD
CCN2	P29279	p.Asp245Asn	rs780414926	missense variant	-	NC_000006.12:g.131949969C>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asp245Gly	rs772571408	missense variant	-	NC_000006.12:g.131949968T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Glu247Gly	rs748894967	missense variant	-	NC_000006.12:g.131949962T>C	ExAC,gnomAD
CCN2	P29279	p.Glu247Gln	rs1210373203	missense variant	-	NC_000006.12:g.131949963C>G	gnomAD
CCN2	P29279	p.Glu248Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949960C>T	NCI-TCGA
CCN2	P29279	p.Ile250Leu	rs1305454118	missense variant	-	NC_000006.12:g.131949954T>G	TOPMed
CCN2	P29279	p.Lys251Thr	rs777629332	missense variant	-	NC_000006.12:g.131949950T>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Lys251Arg	rs777629332	missense variant	-	NC_000006.12:g.131949950T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Lys251Asn	COSM5169400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131949949C>A	NCI-TCGA Cosmic
CCN2	P29279	p.Lys252Glu	rs746904803	missense variant	-	NC_000006.12:g.131949560T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Lys255Asn	rs138854270	missense variant	-	NC_000006.12:g.131949549C>A	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Arg258His	COSM450503	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131949541C>T	NCI-TCGA Cosmic
CCN2	P29279	p.Pro260Ser	rs1207995947	missense variant	-	NC_000006.12:g.131949536G>A	gnomAD
CCN2	P29279	p.Lys261Gln	rs757418221	missense variant	-	NC_000006.12:g.131949533T>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Lys261Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.131949533T>A	NCI-TCGA
CCN2	P29279	p.Pro265Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949521G>A	NCI-TCGA
CCN2	P29279	p.Ile266Val	rs1362630286	missense variant	-	NC_000006.12:g.131949518T>C	gnomAD
CCN2	P29279	p.Lys267Asn	rs929704507	missense variant	-	NC_000006.12:g.131949513C>G	TOPMed,gnomAD
CCN2	P29279	p.Lys267Gln	rs754035771	missense variant	-	NC_000006.12:g.131949515T>G	ExAC,gnomAD
CCN2	P29279	p.Glu269Asp	rs1369627643	missense variant	-	NC_000006.12:g.131949507C>G	gnomAD
CCN2	P29279	p.Gly272Asp	rs1408985404	missense variant	-	NC_000006.12:g.131949499C>T	TOPMed
CCN2	P29279	p.Gly272Cys	COSM3948027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131949500C>A	NCI-TCGA Cosmic
CCN2	P29279	p.Thr274Asn	rs1404121905	missense variant	-	NC_000006.12:g.131949493G>T	gnomAD
CCN2	P29279	p.Ser275Asn	rs1393301194	missense variant	-	NC_000006.12:g.131949490C>T	gnomAD
CCN2	P29279	p.Thr278Lys	rs1164240934	missense variant	-	NC_000006.12:g.131949481G>T	gnomAD
CCN2	P29279	p.Tyr279His	COSM3858331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131949479A>G	NCI-TCGA Cosmic
CCN2	P29279	p.Arg280Gln	rs760727732	missense variant	-	NC_000006.12:g.131949475C>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Ala281Gly	rs1190773592	missense variant	-	NC_000006.12:g.131949472G>C	gnomAD
CCN2	P29279	p.Ala281Thr	rs1388617650	missense variant	-	NC_000006.12:g.131949473C>T	gnomAD
CCN2	P29279	p.Phe283Leu	COSM1073351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131949465G>T	NCI-TCGA Cosmic
CCN2	P29279	p.Cys284Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949463C>A	NCI-TCGA
CCN2	P29279	p.Gly285Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949460C>T	NCI-TCGA
CCN2	P29279	p.Gly285Val	rs776064732	missense variant	-	NC_000006.12:g.131949460C>A	ExAC,gnomAD
CCN2	P29279	p.Val286Ile	rs768182416	missense variant	-	NC_000006.12:g.131949458C>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Thr288Ala	rs759957908	missense variant	-	NC_000006.12:g.131949452T>C	ExAC,gnomAD
CCN2	P29279	p.Asp289His	rs1338513702	missense variant	-	NC_000006.12:g.131949449C>G	TOPMed
CCN2	P29279	p.Gly290Ser	rs1195073840	missense variant	-	NC_000006.12:g.131949446C>T	gnomAD
CCN2	P29279	p.Gly290Arg	rs1195073840	missense variant	-	NC_000006.12:g.131949446C>G	gnomAD
CCN2	P29279	p.Arg291Ter	rs1339618469	stop gained	-	NC_000006.12:g.131949443G>A	TOPMed,gnomAD
CCN2	P29279	p.Arg291Gln	rs747768611	missense variant	-	NC_000006.12:g.131949442C>T	ExAC,gnomAD
CCN2	P29279	p.Cys293Trp	rs776159645	missense variant	-	NC_000006.12:g.131949435G>C	ExAC,gnomAD
CCN2	P29279	p.Thr294Ile	rs746566597	missense variant	-	NC_000006.12:g.131949433G>A	ExAC,gnomAD
CCN2	P29279	p.Thr294Pro	rs768198949	missense variant	-	NC_000006.12:g.131949434T>G	ExAC,gnomAD
CCN2	P29279	p.Thr294Ser	rs768198949	missense variant	-	NC_000006.12:g.131949434T>A	ExAC,gnomAD
CCN2	P29279	p.His296Arg	rs1333400390	missense variant	-	NC_000006.12:g.131949427T>C	gnomAD
CCN2	P29279	p.His296GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.131949426_131949427insT	NCI-TCGA
CCN2	P29279	p.His296ThrPheSerTerUnkUnk	COSM4613137	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.131949428G>-	NCI-TCGA Cosmic
CCN2	P29279	p.Thr298Pro	rs1324602150	missense variant	-	NC_000006.12:g.131949422T>G	gnomAD
CCN2	P29279	p.Thr299Pro	rs745824518	missense variant	-	NC_000006.12:g.131949419T>G	ExAC,gnomAD
CCN2	P29279	p.Thr300Pro	rs778636424	missense variant	-	NC_000006.12:g.131949416T>G	ExAC,gnomAD
CCN2	P29279	p.Pro302Ala	rs757019246	missense variant	-	NC_000006.12:g.131949410G>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Pro302Leu	rs1394533856	missense variant	-	NC_000006.12:g.131949409G>A	gnomAD
CCN2	P29279	p.Val303Leu	rs754080279	missense variant	-	NC_000006.12:g.131949407C>A	ExAC,gnomAD
CCN2	P29279	p.Glu304Gly	rs764293864	missense variant	-	NC_000006.12:g.131949403T>C	ExAC
CCN2	P29279	p.Phe305Leu	rs1181016968	missense variant	-	NC_000006.12:g.131949399G>C	TOPMed,gnomAD
CCN2	P29279	p.Phe305Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949399G>T	NCI-TCGA
CCN2	P29279	p.Lys306Gln	rs543282062	missense variant	-	NC_000006.12:g.131949398T>G	TOPMed
CCN2	P29279	p.Lys306Glu	rs543282062	missense variant	-	NC_000006.12:g.131949398T>C	TOPMed
CCN2	P29279	p.Pro308Ser	rs756191688	missense variant	-	NC_000006.12:g.131949392G>A	ExAC,TOPMed
CCN2	P29279	p.Pro308His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949391G>T	NCI-TCGA
CCN2	P29279	p.Pro308Thr	rs756191688	missense variant	-	NC_000006.12:g.131949392G>T	ExAC,TOPMed
CCN2	P29279	p.Gly310Ser	rs1253745497	missense variant	-	NC_000006.12:g.131949386C>T	gnomAD
CCN2	P29279	p.Gly310Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949386C>A	NCI-TCGA
CCN2	P29279	p.Glu311Gly	rs141716795	missense variant	-	NC_000006.12:g.131949382T>C	ESP,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Glu311Lys	COSM483401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131949383C>T	NCI-TCGA Cosmic
CCN2	P29279	p.Val312Phe	rs1430800186	missense variant	-	NC_000006.12:g.131949380C>A	TOPMed
CCN2	P29279	p.Met317Ile	rs1345132458	missense variant	-	NC_000006.12:g.131949363C>T	gnomAD
CCN2	P29279	p.Met317Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949365T>A	NCI-TCGA
CCN2	P29279	p.Met317Val	rs752118942	missense variant	-	NC_000006.12:g.131949365T>C	ExAC,gnomAD
CCN2	P29279	p.Met318Arg	rs1383831556	missense variant	-	NC_000006.12:g.131949361A>C	TOPMed
CCN2	P29279	p.Met318Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949362T>C	NCI-TCGA
CCN2	P29279	p.Phe319Val	rs766790698	missense variant	-	NC_000006.12:g.131949359A>C	ExAC,gnomAD
CCN2	P29279	p.Phe319Leu	rs766790698	missense variant	-	NC_000006.12:g.131949359A>G	ExAC,gnomAD
CCN2	P29279	p.Ile320Thr	rs1228356834	missense variant	-	NC_000006.12:g.131949355A>G	gnomAD
CCN2	P29279	p.Lys321Glu	rs1348967024	missense variant	-	NC_000006.12:g.131949353T>C	gnomAD
CCN2	P29279	p.Lys321ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.131949352T>-	NCI-TCGA
CCN2	P29279	p.Thr322Pro	rs763283509	missense variant	-	NC_000006.12:g.131949350T>G	ExAC,gnomAD
CCN2	P29279	p.Cys323Tyr	rs1410630702	missense variant	-	NC_000006.12:g.131949346C>T	gnomAD
CCN2	P29279	p.Ala324Val	rs760206555	missense variant	-	NC_000006.12:g.131949343G>A	ExAC
CCN2	P29279	p.Ala324Pro	rs768232580	missense variant	-	NC_000006.12:g.131949344C>G	ExAC,gnomAD
CCN2	P29279	p.Cys325Tyr	rs1332254757	missense variant	-	NC_000006.12:g.131949340C>T	gnomAD
CCN2	P29279	p.Tyr327Ter	rs774929294	stop gained	-	NC_000006.12:g.131949333G>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Tyr327Ter	rs774929294	stop gained	-	NC_000006.12:g.131949333G>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asn328Ser	rs771598402	missense variant	-	NC_000006.12:g.131949331T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asn328Lys	rs1399636126	missense variant	-	NC_000006.12:g.131949330G>T	TOPMed
CCN2	P29279	p.Gly331Arg	rs770759170	missense variant	-	NC_000006.12:g.131949323C>T	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asp332Gly	rs749081361	missense variant	-	NC_000006.12:g.131949319T>C	ExAC,gnomAD
CCN2	P29279	p.Asn333Ser	rs148327380	missense variant	-	NC_000006.12:g.131949316T>C	ESP,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Asp334Tyr	rs756243018	missense variant	-	NC_000006.12:g.131949314C>A	ExAC,gnomAD
CCN2	P29279	p.Asp334Gly	rs1211808095	missense variant	-	NC_000006.12:g.131949313T>C	TOPMed,gnomAD
CCN2	P29279	p.Ile335Val	rs1036211794	missense variant	-	NC_000006.12:g.131949311T>C	TOPMed
CCN2	P29279	p.Glu337Gln	rs753000035	missense variant	-	NC_000006.12:g.131949305C>G	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Ser338Ter	rs371266547	stop gained	-	NC_000006.12:g.131949301G>T	ESP,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Ser338Leu	rs371266547	missense variant	-	NC_000006.12:g.131949301G>A	ESP,ExAC,TOPMed,gnomAD
CCN2	P29279	p.Ser338Pro	COSM3777120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131949302A>G	NCI-TCGA Cosmic
CCN2	P29279	p.Tyr340Phe	rs755120527	missense variant	-	NC_000006.12:g.131949295T>A	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Tyr340Cys	rs755120527	missense variant	-	NC_000006.12:g.131949295T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Tyr341Ter	rs1052086665	stop gained	-	NC_000006.12:g.131949291G>T	gnomAD
CCN2	P29279	p.Tyr341Cys	rs752098338	missense variant	-	NC_000006.12:g.131949292T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Arg342Gly	rs766862137	missense variant	-	NC_000006.12:g.131949290T>C	ExAC,TOPMed,gnomAD
CCN2	P29279	p.Met344Ile	rs763345161	missense variant	-	NC_000006.12:g.131949282C>T	ExAC,gnomAD
CCN2	P29279	p.Tyr345Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.131949279G>T	NCI-TCGA
CCN2	P29279	p.Gly346Arg	rs866211072	missense variant	-	NC_000006.12:g.131949278C>T	gnomAD
CCN2	P29279	p.Gly346Glu	rs1286434015	missense variant	-	NC_000006.12:g.131949277C>T	gnomAD
CCN2	P29279	p.Asp347His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.131949275C>G	NCI-TCGA
CCN2	P29279	p.Asp347Gly	COSM1440517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131949274T>C	NCI-TCGA Cosmic
CCN2	P29279	p.Met348Val	COSM1073348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.131949272T>C	NCI-TCGA Cosmic
CCN2	P29279	p.Ter350Gly	rs1383990931	stop lost	-	NC_000006.12:g.131949266A>C	TOPMed
EPHB2	P29323	p.Arg4Trp	rs1469503553	missense variant	-	NC_000001.11:g.22710992C>T	TOPMed,gnomAD
EPHB2	P29323	p.Arg4Gln	rs776058142	missense variant	-	NC_000001.11:g.22710993G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala8Thr	rs1316236885	missense variant	-	NC_000001.11:g.22711004G>A	TOPMed,gnomAD
EPHB2	P29323	p.Ala9Thr	rs1168590699	missense variant	-	NC_000001.11:g.22711007G>A	TOPMed
EPHB2	P29323	p.Leu11Met	rs1361176539	missense variant	-	NC_000001.11:g.22711013C>A	gnomAD
EPHB2	P29323	p.Glu21Asp	rs779339531	missense variant	-	NC_000001.11:g.22781422A>T	gnomAD
EPHB2	P29323	p.Thr22Met	rs201121087	missense variant	-	NC_000001.11:g.22781424C>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr22Met	rs201121087	missense variant	-	NC_000001.11:g.22781424C>T	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Leu23Ile	rs757765223	missense variant	-	NC_000001.11:g.22781426C>A	ExAC,gnomAD
EPHB2	P29323	p.Met24Val	rs1188180163	missense variant	-	NC_000001.11:g.22781429A>G	gnomAD
EPHB2	P29323	p.Asp25Asn	rs765772842	missense variant	-	NC_000001.11:g.22781432G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp25Asn	rs765772842	missense variant	-	NC_000001.11:g.22781432G>A	NCI-TCGA
EPHB2	P29323	p.Thr27Ala	rs1423955367	missense variant	-	NC_000001.11:g.22781438A>G	gnomAD
EPHB2	P29323	p.Thr27Ile	rs372861666	missense variant	-	NC_000001.11:g.22781439C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr28Ala	rs780349936	missense variant	-	NC_000001.11:g.22781441A>G	ExAC,gnomAD
EPHB2	P29323	p.Ala29Val	rs1050181261	missense variant	-	NC_000001.11:g.22781445C>T	TOPMed,gnomAD
EPHB2	P29323	p.Ala29Val	rs1050181261	missense variant	-	NC_000001.11:g.22781445C>T	NCI-TCGA
EPHB2	P29323	p.Thr30Ser	rs1336797574	missense variant	-	NC_000001.11:g.22781448C>G	gnomAD
EPHB2	P29323	p.Ala31Thr	rs141486320	missense variant	-	NC_000001.11:g.22781450G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala31Thr	rs141486320	missense variant	-	NC_000001.11:g.22781450G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Glu32Lys	COSM3789625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22781453G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Trp35Gly	rs770838622	missense variant	-	NC_000001.11:g.22781462T>G	ExAC,gnomAD
EPHB2	P29323	p.Trp35Leu	rs1221917769	missense variant	-	NC_000001.11:g.22781463G>T	gnomAD
EPHB2	P29323	p.Met36Leu	rs1008293651	missense variant	-	NC_000001.11:g.22781465A>T	TOPMed,gnomAD
EPHB2	P29323	p.Met36Val	rs1008293651	missense variant	-	NC_000001.11:g.22781465A>G	TOPMed,gnomAD
EPHB2	P29323	p.His38Pro	rs774311390	missense variant	-	NC_000001.11:g.22781472A>C	ExAC,gnomAD
EPHB2	P29323	p.Pro39Leu	rs745703555	missense variant	-	NC_000001.11:g.22781475C>T	ExAC,gnomAD
EPHB2	P29323	p.Pro39Ser	COSM3485042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22781474C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Pro40Ser	COSM1646087	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22781477C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Tyr49Ter	rs772063930	stop gained	-	NC_000001.11:g.22784412C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp50Asn	rs780057705	missense variant	-	NC_000001.11:g.22784413G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp50Asn	rs780057705	missense variant	-	NC_000001.11:g.22784413G>A	NCI-TCGA
EPHB2	P29323	p.Glu51Asp	rs569209811	missense variant	-	NC_000001.11:g.22784418G>T	1000Genomes,ExAC
EPHB2	P29323	p.Glu51Asp	rs569209811	missense variant	-	NC_000001.11:g.22784418G>T	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Met53Ile	rs1266296785	missense variant	-	NC_000001.11:g.22784424G>A	gnomAD
EPHB2	P29323	p.Thr55Met	rs202156735	missense variant	-	NC_000001.11:g.22784429C>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr55Met	rs202156735	missense variant	-	NC_000001.11:g.22784429C>T	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Arg57Cys	rs773210880	missense variant	-	NC_000001.11:g.22784434C>T	ExAC,gnomAD
EPHB2	P29323	p.Arg57His	rs1159845464	missense variant	-	NC_000001.11:g.22784435G>A	gnomAD
EPHB2	P29323	p.Arg57His	rs1159845464	missense variant	-	NC_000001.11:g.22784435G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Val61Met	rs766858561	missense variant	-	NC_000001.11:g.22784446G>A	ExAC,gnomAD
EPHB2	P29323	p.Val61Leu	COSM1646085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22784446G>C	NCI-TCGA Cosmic
EPHB2	P29323	p.Cys62Gly	rs1292993183	missense variant	-	NC_000001.11:g.22784449T>G	gnomAD
EPHB2	P29323	p.Asn63Lys	rs969702593	missense variant	-	NC_000001.11:g.22784454C>A	TOPMed,gnomAD
EPHB2	P29323	p.Asn63Asp	rs751987143	missense variant	-	NC_000001.11:g.22784452A>G	ExAC,gnomAD
EPHB2	P29323	p.Asn63Ser	rs759912375	missense variant	-	NC_000001.11:g.22784453A>G	ExAC,gnomAD
EPHB2	P29323	p.Val64Met	rs72653677	missense variant	-	NC_000001.11:g.22784455G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser67Ala	rs1466492153	missense variant	-	NC_000001.11:g.22784464T>G	TOPMed
EPHB2	P29323	p.Ser67Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784465C>T	NCI-TCGA
EPHB2	P29323	p.Ser68Arg	rs756817061	missense variant	-	NC_000001.11:g.22784467A>C	ExAC,gnomAD
EPHB2	P29323	p.Arg74Gln	rs763188025	missense variant	-	NC_000001.11:g.22784486G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg74Trp	rs372282301	missense variant	-	NC_000001.11:g.22784485C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg74Gln	rs763188025	missense variant	-	NC_000001.11:g.22784486G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Arg74Trp	rs372282301	missense variant	-	NC_000001.11:g.22784485C>T	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Lys76Arg	rs1414024262	missense variant	-	NC_000001.11:g.22784492A>G	gnomAD
EPHB2	P29323	p.Ile78Val	rs758480347	missense variant	-	NC_000001.11:g.22784497A>G	ExAC,gnomAD
EPHB2	P29323	p.Ile78Phe	COSM3485045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22784497A>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Arg79Trp	rs139122679	missense variant	-	NC_000001.11:g.22784500C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg79Gln	rs746830376	missense variant	-	NC_000001.11:g.22784501G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg79Trp	rs139122679	missense variant	-	NC_000001.11:g.22784500C>T	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Arg80His	rs181872637	missense variant	-	NC_000001.11:g.22784504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg80Cys	COSM4651145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22784503C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Arg81His	rs368075671	missense variant	-	NC_000001.11:g.22784507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg81Cys	rs780811130	missense variant	-	NC_000001.11:g.22784506C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg81Leu	rs368075671	missense variant	-	NC_000001.11:g.22784507G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala83Thr	rs201337795	missense variant	-	NC_000001.11:g.22784512G>A	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Arg85Ser	rs1369130825	missense variant	-	NC_000001.11:g.22784518C>A	gnomAD
EPHB2	P29323	p.Arg85His	rs1459453657	missense variant	-	NC_000001.11:g.22784519G>A	gnomAD
EPHB2	P29323	p.Ile86Val	rs763014732	missense variant	-	NC_000001.11:g.22784521A>G	ExAC,gnomAD
EPHB2	P29323	p.Val88Leu	rs764400386	missense variant	-	NC_000001.11:g.22784527G>C	TOPMed
EPHB2	P29323	p.Val88Met	rs764400386	missense variant	-	NC_000001.11:g.22784527G>A	TOPMed
EPHB2	P29323	p.Met90Val	rs759909155	missense variant	-	NC_000001.11:g.22784533A>G	ExAC,gnomAD
EPHB2	P29323	p.Ser93Leu	COSM3485048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22784543C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Val94Met	rs1378788597	missense variant	-	NC_000001.11:g.22784545G>A	gnomAD
EPHB2	P29323	p.Arg95His	rs1394226453	missense variant	-	NC_000001.11:g.22784549G>A	gnomAD
EPHB2	P29323	p.Ser98Gly	rs200905937	missense variant	-	NC_000001.11:g.22784557A>G	gnomAD
EPHB2	P29323	p.Ser98Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784558G>T	NCI-TCGA
EPHB2	P29323	p.Pro101Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784567C>T	NCI-TCGA
EPHB2	P29323	p.Ser102Gly	rs1246347611	missense variant	-	NC_000001.11:g.22784569A>G	gnomAD
EPHB2	P29323	p.Val103Met	rs958854881	missense variant	-	NC_000001.11:g.22784572G>A	gnomAD
EPHB2	P29323	p.Ser106Phe	rs1240448962	missense variant	-	NC_000001.11:g.22784582C>T	gnomAD
EPHB2	P29323	p.Lys108Asn	rs757962602	missense variant	-	NC_000001.11:g.22784589G>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr110Asn	COSM6062271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22784594C>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Tyr115Ter	rs1257459801	stop gained	-	NC_000001.11:g.22784610C>A	gnomAD
EPHB2	P29323	p.Tyr116Phe	rs779665367	missense variant	-	NC_000001.11:g.22784612A>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Tyr116Cys	rs779665367	missense variant	-	NC_000001.11:g.22784612A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Tyr116His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784611T>C	NCI-TCGA
EPHB2	P29323	p.Ala118Asp	rs200904787	missense variant	-	NC_000001.11:g.22784618C>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala118Gly	rs200904787	missense variant	-	NC_000001.11:g.22784618C>G	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Phe120Ser	rs754806573	missense variant	-	NC_000001.11:g.22784624T>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp121Glu	rs781054820	missense variant	-	NC_000001.11:g.22784628C>G	ExAC,gnomAD
EPHB2	P29323	p.Ser122Pro	rs1402215618	missense variant	-	NC_000001.11:g.22784629T>C	gnomAD
EPHB2	P29323	p.Ser122Leu	rs1464345226	missense variant	-	NC_000001.11:g.22784630C>T	TOPMed,gnomAD
EPHB2	P29323	p.Lys125Arg	rs756394801	missense variant	-	NC_000001.11:g.22784639A>G	ExAC,gnomAD
EPHB2	P29323	p.Pro128Ala	rs777940688	missense variant	-	NC_000001.11:g.22784647C>G	ExAC,gnomAD
EPHB2	P29323	p.Asn129Ser	rs749417609	missense variant	-	NC_000001.11:g.22784651A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Trp130Arg	rs771019728	missense variant	-	NC_000001.11:g.22784653T>A	ExAC,gnomAD
EPHB2	P29323	p.Met131Val	rs774252771	missense variant	-	NC_000001.11:g.22784656A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Met131Ile	rs746387783	missense variant	-	NC_000001.11:g.22784658G>A	ExAC,gnomAD
EPHB2	P29323	p.Glu132Gln	rs1310867447	missense variant	-	NC_000001.11:g.22784659G>C	gnomAD
EPHB2	P29323	p.Glu132Lys	COSM3485051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22784659G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Val136Met	rs772397371	missense variant	-	NC_000001.11:g.22784671G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val136Leu	rs772397371	missense variant	-	NC_000001.11:g.22784671G>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr140Asn	rs775993472	missense variant	-	NC_000001.11:g.22784684C>A	ExAC,gnomAD
EPHB2	P29323	p.Thr140Ile	rs775993472	missense variant	-	NC_000001.11:g.22784684C>T	ExAC,gnomAD
EPHB2	P29323	p.Thr140Ile	rs775993472	missense variant	-	NC_000001.11:g.22784684C>T	NCI-TCGA
EPHB2	P29323	p.Ile141Val	rs765034780	missense variant	-	NC_000001.11:g.22784686A>G	ExAC,gnomAD
EPHB2	P29323	p.Glu145Lys	rs1249080185	missense variant	-	NC_000001.11:g.22784698G>A	gnomAD
EPHB2	P29323	p.Ser146Arg	rs1308659541	missense variant	-	NC_000001.11:g.22784701A>C	TOPMed
EPHB2	P29323	p.Ser148Cys	rs750977201	missense variant	-	NC_000001.11:g.22784708C>G	ExAC,gnomAD
EPHB2	P29323	p.Gln149His	rs372861886	missense variant	-	NC_000001.11:g.22784712G>C	ESP,TOPMed,gnomAD
EPHB2	P29323	p.Leu152Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784719C>A	NCI-TCGA
EPHB2	P29323	p.Gly154Asp	rs1451521104	missense variant	-	NC_000001.11:g.22784726G>A	gnomAD
EPHB2	P29323	p.Arg155Cys	rs1175066410	missense variant	-	NC_000001.11:g.22784728C>T	gnomAD
EPHB2	P29323	p.Arg155His	rs185887197	missense variant	-	NC_000001.11:g.22784729G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg155Cys	rs1175066410	missense variant	-	NC_000001.11:g.22784728C>T	NCI-TCGA
EPHB2	P29323	p.Val156Ile	rs376990288	missense variant	-	NC_000001.11:g.22784731G>A	ESP,TOPMed,gnomAD
EPHB2	P29323	p.Val156Ile	rs376990288	missense variant	-	NC_000001.11:g.22784731G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Met157Ile	rs551164855	missense variant	-	NC_000001.11:g.22784736G>A	gnomAD
EPHB2	P29323	p.Lys158Thr	rs1400063025	missense variant	-	NC_000001.11:g.22784738A>C	gnomAD
EPHB2	P29323	p.Ile159Thr	rs755879848	missense variant	-	NC_000001.11:g.22784741T>C	ExAC,gnomAD
EPHB2	P29323	p.Thr161Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784747C>T	NCI-TCGA
EPHB2	P29323	p.Glu162Lys	rs1347733653	missense variant	-	NC_000001.11:g.22784749G>A	TOPMed
EPHB2	P29323	p.Val163Ala	COSM3485057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22784753T>C	NCI-TCGA Cosmic
EPHB2	P29323	p.Arg164Gln	rs908259906	missense variant	-	NC_000001.11:g.22784756G>A	TOPMed,gnomAD
EPHB2	P29323	p.Arg164Gln	rs908259906	missense variant	-	NC_000001.11:g.22784756G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Gly167Arg	rs1215107970	missense variant	-	NC_000001.11:g.22784764G>A	gnomAD
EPHB2	P29323	p.Pro168Thr	rs751856545	missense variant	-	NC_000001.11:g.22784767C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Pro168Ser	rs751856545	missense variant	-	NC_000001.11:g.22784767C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val169Met	rs891984699	missense variant	-	NC_000001.11:g.22784770G>A	TOPMed
EPHB2	P29323	p.Ser170Phe	COSM3485060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22784774C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Arg171His	rs567475875	missense variant	-	NC_000001.11:g.22784777G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg171Cys	rs769177192	missense variant	-	NC_000001.11:g.22784776C>T	ExAC,gnomAD
EPHB2	P29323	p.Arg171His	rs567475875	missense variant	-	NC_000001.11:g.22784777G>A	NCI-TCGA
EPHB2	P29323	p.Ser172Asn	rs1436755607	missense variant	-	NC_000001.11:g.22784780G>A	gnomAD
EPHB2	P29323	p.Ser172Gly	rs762710767	missense variant	-	NC_000001.11:g.22784779A>G	ExAC,gnomAD
EPHB2	P29323	p.Ser172Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784780G>C	NCI-TCGA
EPHB2	P29323	p.Ser172Asn	rs1436755607	missense variant	-	NC_000001.11:g.22784780G>A	NCI-TCGA
EPHB2	P29323	p.Gly173Ala	rs1434629622	missense variant	-	NC_000001.11:g.22784783G>C	gnomAD
EPHB2	P29323	p.Gly173Ser	rs1394423621	missense variant	-	NC_000001.11:g.22784782G>A	TOPMed
EPHB2	P29323	p.Asp180Glu	rs773979383	missense variant	-	NC_000001.11:g.22784805C>A	ExAC,gnomAD
EPHB2	P29323	p.Asp180Glu	rs773979383	missense variant	-	NC_000001.11:g.22784805C>G	ExAC,gnomAD
EPHB2	P29323	p.Tyr181Asn	rs758937616	missense variant	-	NC_000001.11:g.22784806T>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Tyr181His	rs758937616	missense variant	-	NC_000001.11:g.22784806T>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly183Ser	rs752597558	missense variant	-	NC_000001.11:g.22784812G>A	ExAC,gnomAD
EPHB2	P29323	p.Cys184Arg	rs1369878562	missense variant	-	NC_000001.11:g.22784815T>C	gnomAD
EPHB2	P29323	p.Met185Thr	rs1233325500	missense variant	-	NC_000001.11:g.22784819T>C	gnomAD
EPHB2	P29323	p.Met185Val	rs1293700227	missense variant	-	NC_000001.11:g.22784818A>G	TOPMed,gnomAD
EPHB2	P29323	p.Ile188Thr	rs756004468	missense variant	-	NC_000001.11:g.22784828T>C	ExAC,gnomAD
EPHB2	P29323	p.Ala189Thr	rs763878876	missense variant	-	NC_000001.11:g.22784830G>A	ExAC,gnomAD
EPHB2	P29323	p.Ala189Val	rs1331861062	missense variant	-	NC_000001.11:g.22784831C>T	TOPMed
EPHB2	P29323	p.Val190Met	rs757529004	missense variant	-	NC_000001.11:g.22784833G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val190Met	rs757529004	missense variant	-	NC_000001.11:g.22784833G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Arg191His	rs758432081	missense variant	-	NC_000001.11:g.22784837G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Phe193Cys	rs747523772	missense variant	-	NC_000001.11:g.22784843T>G	ExAC,gnomAD
EPHB2	P29323	p.Phe193Leu	rs780145210	missense variant	-	NC_000001.11:g.22784842T>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg195Ser	rs769230171	missense variant	-	NC_000001.11:g.22784848C>A	ExAC,gnomAD
EPHB2	P29323	p.Arg195Cys	rs769230171	missense variant	-	NC_000001.11:g.22784848C>T	ExAC,gnomAD
EPHB2	P29323	p.Arg195His	rs370909083	missense variant	-	NC_000001.11:g.22784849G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Pro198His	rs775538924	missense variant	-	NC_000001.11:g.22784858C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg199His	rs201754821	missense variant	-	NC_000001.11:g.22784861G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg199His	rs201754821	missense variant	-	NC_000001.11:g.22784861G>A	UniProt,dbSNP
EPHB2	P29323	p.Arg199His	VAR_032853	missense variant	-	NC_000001.11:g.22784861G>A	UniProt
EPHB2	P29323	p.Ile200Thr	rs903253398	missense variant	-	NC_000001.11:g.22784864T>C	gnomAD
EPHB2	P29323	p.Ser212Leu	rs202146067	missense variant	-	NC_000001.11:g.22784900C>T	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Glu215Lys	COSM1646083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22784908G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Ser216Asn	rs1331127632	missense variant	-	NC_000001.11:g.22784912G>A	gnomAD
EPHB2	P29323	p.Ser216Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784912G>C	NCI-TCGA
EPHB2	P29323	p.Leu219Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784920C>A	NCI-TCGA
EPHB2	P29323	p.Val220Ala	rs753696355	missense variant	-	NC_000001.11:g.22784924T>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala222Gly	rs761494715	missense variant	-	NC_000001.11:g.22784930C>G	ExAC,gnomAD
EPHB2	P29323	p.Arg223Trp	rs533973381	missense variant	-	NC_000001.11:g.22784932C>T	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Arg223Gln	rs750644441	missense variant	-	NC_000001.11:g.22784933G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala228Ser	rs755610456	missense variant	-	NC_000001.11:g.22784947G>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala228Val	rs1300497216	missense variant	-	NC_000001.11:g.22784948C>T	TOPMed
EPHB2	P29323	p.Ala228Thr	rs755610456	missense variant	-	NC_000001.11:g.22784947G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala228Thr	rs755610456	missense variant	-	NC_000001.11:g.22784947G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Asn229Ser	rs200990235	missense variant	-	NC_000001.11:g.22784951A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala230Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784954C>T	NCI-TCGA
EPHB2	P29323	p.Glu231Gly	rs770077850	missense variant	-	NC_000001.11:g.22784957A>G	ExAC,gnomAD
EPHB2	P29323	p.Glu232Lys	rs778157217	missense variant	-	NC_000001.11:g.22784959G>A	ExAC,gnomAD
EPHB2	P29323	p.Val233Glu	rs745510281	missense variant	-	NC_000001.11:g.22784963T>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp234Asn	rs1389541337	missense variant	-	NC_000001.11:g.22784965G>A	gnomAD
EPHB2	P29323	p.Val235Leu	rs1272128894	missense variant	-	NC_000001.11:g.22784968G>T	TOPMed
EPHB2	P29323	p.Val235Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784969T>C	NCI-TCGA
EPHB2	P29323	p.Leu239Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784980C>T	NCI-TCGA
EPHB2	P29323	p.Asn242Lys	rs768617454	missense variant	-	NC_000001.11:g.22784991C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asn242His	rs760169459	missense variant	-	NC_000001.11:g.22784989A>C	ExAC,gnomAD
EPHB2	P29323	p.Gly243Arg	rs571009170	missense variant	-	NC_000001.11:g.22784992G>A	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Gly243Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784993G>A	NCI-TCGA
EPHB2	P29323	p.Asp244Glu	rs761772326	missense variant	-	NC_000001.11:g.22784997C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp244Tyr	rs901860207	missense variant	-	NC_000001.11:g.22784995G>T	TOPMed,gnomAD
EPHB2	P29323	p.Asp244Asn	rs901860207	missense variant	-	NC_000001.11:g.22784995G>A	TOPMed,gnomAD
EPHB2	P29323	p.Gly245Ser	rs750175312	missense variant	-	NC_000001.11:g.22784998G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly245Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22784998G>T	NCI-TCGA
EPHB2	P29323	p.Glu246Lys	rs1318420169	missense variant	-	NC_000001.11:g.22785001G>A	gnomAD
EPHB2	P29323	p.Glu246Lys	rs1318420169	missense variant	-	NC_000001.11:g.22785001G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Val249Gly	rs202178471	missense variant	-	NC_000001.11:g.22785011T>G	ExAC,gnomAD
EPHB2	P29323	p.Pro250Ala	rs766704829	missense variant	-	NC_000001.11:g.22785013C>G	ExAC,gnomAD
EPHB2	P29323	p.Ile251Phe	rs751729316	missense variant	-	NC_000001.11:g.22785016A>T	ExAC,gnomAD
EPHB2	P29323	p.Ile251Leu	rs751729316	missense variant	-	NC_000001.11:g.22785016A>C	ExAC,gnomAD
EPHB2	P29323	p.Gly252Val	rs1192558361	missense variant	-	NC_000001.11:g.22785020G>T	gnomAD
EPHB2	P29323	p.Arg253His	rs746154144	missense variant	-	NC_000001.11:g.22785023G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg253Cys	rs200565776	missense variant	-	NC_000001.11:g.22785022C>T	1000Genomes,ExAC
EPHB2	P29323	p.Met255Val	rs1476616446	missense variant	-	NC_000001.11:g.22785028A>G	gnomAD
EPHB2	P29323	p.Met255Ile	rs556445443	missense variant	-	NC_000001.11:g.22785030G>A	1000Genomes,gnomAD
EPHB2	P29323	p.Met255Leu	rs1476616446	missense variant	-	NC_000001.11:g.22785028A>T	gnomAD
EPHB2	P29323	p.Glu261Gln	rs749647994	missense variant	-	NC_000001.11:g.22785046G>C	ExAC,gnomAD
EPHB2	P29323	p.Glu261Lys	rs749647994	missense variant	-	NC_000001.11:g.22785046G>A	ExAC,gnomAD
EPHB2	P29323	p.Glu261Lys	rs749647994	missense variant	-	NC_000001.11:g.22785046G>A	NCI-TCGA
EPHB2	P29323	p.Ala262Gly	rs779646424	missense variant	-	NC_000001.11:g.22785050C>G	ExAC,gnomAD
EPHB2	P29323	p.Val263Ile	rs150803261	missense variant	-	NC_000001.11:g.22785052G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val263Ile	RCV000207356	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000001.11:g.22785052G>A	ClinVar
EPHB2	P29323	p.Glu264Lys	rs768188013	missense variant	-	NC_000001.11:g.22785055G>A	ExAC,gnomAD
EPHB2	P29323	p.Asn265Tyr	rs202059800	missense variant	-	NC_000001.11:g.22785058A>T	1000Genomes,ExAC
EPHB2	P29323	p.Val268Ile	rs369702152	missense variant	-	NC_000001.11:g.22785067G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val268Ile	rs369702152	missense variant	-	NC_000001.11:g.22785067G>A	NCI-TCGA
EPHB2	P29323	p.Arg270Leu	rs541921750	missense variant	-	NC_000001.11:g.22785074G>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg270Ter	rs1200975274	stop gained	-	NC_000001.11:g.22785073C>T	TOPMed,gnomAD
EPHB2	P29323	p.Arg270Gln	rs541921750	missense variant	-	NC_000001.11:g.22785074G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly275Glu	COSM4029476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22863049G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Ala279Pro	rs35882952	missense variant	-	NC_000001.11:g.22863060G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala279Ser	rs35882952	missense variant	-	NC_000001.11:g.22863060G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala279Ser	RCV000009059	missense variant	Prostate cancer/brain cancer susceptibility	NC_000001.11:g.22863060G>T	ClinVar
EPHB2	P29323	p.Gln281Lys	rs772406361	missense variant	-	NC_000001.11:g.22863066C>A	ExAC,gnomAD
EPHB2	P29323	p.Gly282Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22863069G>T	NCI-TCGA
EPHB2	P29323	p.Asp283His	rs142113032	missense variant	-	NC_000001.11:g.22863072G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp283Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22863072G>A	NCI-TCGA
EPHB2	P29323	p.Glu284Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22863075G>T	NCI-TCGA
EPHB2	P29323	p.Ala285Thr	rs1252908984	missense variant	-	NC_000001.11:g.22863078G>A	TOPMed
EPHB2	P29323	p.Thr287Ile	rs1473785757	missense variant	-	NC_000001.11:g.22863085C>T	TOPMed
EPHB2	P29323	p.His288Tyr	rs1445956482	missense variant	-	NC_000001.11:g.22863087C>T	gnomAD
EPHB2	P29323	p.Cys289Gly	VAR_042172	Missense	-	-	UniProt
EPHB2	P29323	p.Arg294Gln	rs147727992	missense variant	-	NC_000001.11:g.22863106G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg294Gly	rs754403229	missense variant	-	NC_000001.11:g.22863105C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg294Trp	rs754403229	missense variant	-	NC_000001.11:g.22863105C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asn302Ser	rs765604107	missense variant	-	NC_000001.11:g.22863130A>G	ExAC,gnomAD
EPHB2	P29323	p.Arg306His	rs750776222	missense variant	-	NC_000001.11:g.22863142G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg306Cys	rs1457553929	missense variant	-	NC_000001.11:g.22863141C>T	TOPMed,gnomAD
EPHB2	P29323	p.Arg306Pro	rs750776222	missense variant	-	NC_000001.11:g.22863142G>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asn307Ser	rs754693296	missense variant	-	NC_000001.11:g.22863145A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly308Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22863148G>A	NCI-TCGA
EPHB2	P29323	p.Arg311Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22863156A>G	NCI-TCGA
EPHB2	P29323	p.Asp313Glu	rs1369082768	missense variant	-	NC_000001.11:g.22863164C>A	gnomAD
EPHB2	P29323	p.Asp313Asn	rs1186903570	missense variant	-	NC_000001.11:g.22863162G>A	gnomAD
EPHB2	P29323	p.Asp315Glu	rs752199354	missense variant	-	NC_000001.11:g.22863170C>G	ExAC,gnomAD
EPHB2	P29323	p.Pro316Leu	rs1335366711	missense variant	-	NC_000001.11:g.22863172C>T	TOPMed
EPHB2	P29323	p.Leu317Val	rs150415344	missense variant	-	NC_000001.11:g.22863174C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Leu317Met	COSM1646081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22863174C>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Asp318Gly	rs749240821	missense variant	-	NC_000001.11:g.22863178A>G	ExAC,gnomAD
EPHB2	P29323	p.Met319Val	rs1298722748	missense variant	-	NC_000001.11:g.22863180A>G	gnomAD
EPHB2	P29323	p.Pro320Ser	rs770933694	missense variant	-	NC_000001.11:g.22863183C>T	ExAC,gnomAD
EPHB2	P29323	p.Ile324Leu	rs1290207651	missense variant	-	NC_000001.11:g.22864879A>C	gnomAD
EPHB2	P29323	p.Ser326Pro	rs1366002848	missense variant	-	NC_000001.11:g.22864885T>C	TOPMed,gnomAD
EPHB2	P29323	p.Ala327Pro	rs200298851	missense variant	-	NC_000001.11:g.22864888G>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala327Val	rs764789610	missense variant	-	NC_000001.11:g.22864889C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala327Thr	rs200298851	missense variant	-	NC_000001.11:g.22864888G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gln329Arg	rs1035342718	missense variant	-	NC_000001.11:g.22864895A>G	TOPMed,gnomAD
EPHB2	P29323	p.Gln329Pro	rs1035342718	missense variant	-	NC_000001.11:g.22864895A>C	TOPMed,gnomAD
EPHB2	P29323	p.Gln329ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.22864890_22864891insC	NCI-TCGA
EPHB2	P29323	p.Gln329His	rs779960189	missense variant	-	NC_000001.11:g.22864896G>C	ExAC,gnomAD
EPHB2	P29323	p.Ala330Thr	rs142890560	missense variant	-	NC_000001.11:g.22864897G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala330Ser	rs142890560	missense variant	-	NC_000001.11:g.22864897G>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser334Gly	rs1487407756	missense variant	-	NC_000001.11:g.22864909A>G	gnomAD
EPHB2	P29323	p.Met341Val	rs781369771	missense variant	-	NC_000001.11:g.22864930A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Met341Leu	rs781369771	missense variant	-	NC_000001.11:g.22864930A>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Met341Arg	rs1345694016	missense variant	-	NC_000001.11:g.22864931T>G	TOPMed
EPHB2	P29323	p.Leu342Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22864934T>A	NCI-TCGA
EPHB2	P29323	p.Glu343Gly	rs1017120256	missense variant	-	NC_000001.11:g.22864937A>G	gnomAD
EPHB2	P29323	p.Glu343Lys	COSM3485123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22864936G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Trp344Leu	rs1156690329	missense variant	-	NC_000001.11:g.22864940G>T	gnomAD
EPHB2	P29323	p.Pro347His	rs748321933	missense variant	-	NC_000001.11:g.22864949C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg348Cys	rs769893752	missense variant	-	NC_000001.11:g.22864951C>T	ExAC,gnomAD
EPHB2	P29323	p.Arg348Pro	rs543324058	missense variant	-	NC_000001.11:g.22864952G>C	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Arg348His	rs543324058	missense variant	-	NC_000001.11:g.22864952G>A	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Asp349Asn	rs368529651	missense variant	-	NC_000001.11:g.22864954G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly351Arg	rs918290908	missense variant	-	NC_000001.11:g.22864960G>A	TOPMed,gnomAD
EPHB2	P29323	p.Gly351Glu	COSM4405000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22864961G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Val357Ile	rs528777153	missense variant	-	NC_000001.11:g.22864978G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val357Gly	rs761515610	missense variant	-	NC_000001.11:g.22864979T>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asn359Asp	rs749943493	missense variant	-	NC_000001.11:g.22864984A>G	ExAC,gnomAD
EPHB2	P29323	p.Ile361Val	rs56180036	missense variant	-	NC_000001.11:g.22864990A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ile361Val	rs56180036	missense variant	-	NC_000001.11:g.22864990A>G	UniProt,dbSNP
EPHB2	P29323	p.Ile361Val	VAR_042173	missense variant	-	NC_000001.11:g.22864990A>G	UniProt
EPHB2	P29323	p.Gly366Val	rs751420728	missense variant	-	NC_000001.11:g.22865006G>T	ExAC,gnomAD
EPHB2	P29323	p.Ser367Leu	rs199648689	missense variant	-	NC_000001.11:g.22865009C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg369Gln	rs141626076	missense variant	-	NC_000001.11:g.22865015G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg369Pro	rs141626076	missense variant	-	NC_000001.11:g.22865015G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg369Leu	rs141626076	missense variant	-	NC_000001.11:g.22865015G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg369Trp	rs756268531	missense variant	-	NC_000001.11:g.22865014C>T	ExAC,gnomAD
EPHB2	P29323	p.Gly370Asp	rs1474049858	missense variant	-	NC_000001.11:g.22865018G>A	TOPMed
EPHB2	P29323	p.Gly370Val	rs1474049858	missense variant	-	NC_000001.11:g.22865018G>T	TOPMed
EPHB2	P29323	p.Gly370Ser	rs749323641	missense variant	-	NC_000001.11:g.22865017G>A	ExAC,gnomAD
EPHB2	P29323	p.Ala371Asp	rs1464392915	missense variant	-	NC_000001.11:g.22865021C>A	gnomAD
EPHB2	P29323	p.Ala371Thr	rs200609603	missense variant	-	NC_000001.11:g.22865020G>A	1000Genomes
EPHB2	P29323	p.Arg374His	rs550233379	missense variant	-	NC_000001.11:g.22865030G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly376Arg	rs1444928620	missense variant	-	NC_000001.11:g.22865035G>A	gnomAD
EPHB2	P29323	p.Gly376Ala	COSM4892887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22865036G>C	NCI-TCGA Cosmic
EPHB2	P29323	p.Asn378Lys	rs147147271	missense variant	-	NC_000001.11:g.22865043T>G	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val379Ala	rs1295335562	missense variant	-	NC_000001.11:g.22865045T>C	gnomAD
EPHB2	P29323	p.Val379Ile	rs761618034	missense variant	-	NC_000001.11:g.22865044G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gln380Arg	rs1415136619	missense variant	-	NC_000001.11:g.22865048A>G	TOPMed
EPHB2	P29323	p.Ala382Thr	rs368104279	missense variant	-	NC_000001.11:g.22865053G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Pro383Gln	rs772822931	missense variant	-	NC_000001.11:g.22865057C>A	ExAC,gnomAD
EPHB2	P29323	p.Pro383Thr	rs933280633	missense variant	-	NC_000001.11:g.22865056C>A	TOPMed
EPHB2	P29323	p.Arg384Leu	rs762351366	missense variant	-	NC_000001.11:g.22865060G>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg384Cys	rs902421968	missense variant	-	NC_000001.11:g.22865059C>T	TOPMed
EPHB2	P29323	p.Arg384His	rs762351366	missense variant	-	NC_000001.11:g.22865060G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Leu386Val	rs1206457903	missense variant	-	NC_000001.11:g.22865065C>G	TOPMed,gnomAD
EPHB2	P29323	p.Leu388Val	rs1235258442	missense variant	-	NC_000001.11:g.22865071C>G	gnomAD
EPHB2	P29323	p.Glu390Lys	rs759453037	missense variant	-	NC_000001.11:g.22865077G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Glu390Ter	COSM6062248	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.22865077G>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Pro391Ala	rs1477076406	missense variant	-	NC_000001.11:g.22865080C>G	TOPMed,gnomAD
EPHB2	P29323	p.Arg392His	rs777940741	missense variant	-	NC_000001.11:g.22865084G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg392Cys	rs756394867	missense variant	-	NC_000001.11:g.22865083C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ile393Thr	rs1358713907	missense variant	-	NC_000001.11:g.22865087T>C	gnomAD
EPHB2	P29323	p.Tyr394Phe	rs757303439	missense variant	-	NC_000001.11:g.22865090A>T	ExAC,gnomAD
EPHB2	P29323	p.Ser396Asn	rs1233157301	missense variant	-	NC_000001.11:g.22865096G>A	TOPMed
EPHB2	P29323	p.Ser396Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22865095A>T	NCI-TCGA
EPHB2	P29323	p.Leu399Val	rs1338681511	missense variant	-	NC_000001.11:g.22865104C>G	gnomAD
EPHB2	P29323	p.His401Asn	COSM4029494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22865110C>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Gln403Arg	rs772695950	missense variant	-	NC_000001.11:g.22865117A>G	ExAC,gnomAD
EPHB2	P29323	p.Glu407Lys	rs1470876488	missense variant	-	NC_000001.11:g.22865128G>A	TOPMed
EPHB2	P29323	p.Ile408Val	rs780635011	missense variant	-	NC_000001.11:g.22865131A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala410Thr	rs747350024	missense variant	-	NC_000001.11:g.22865137G>A	ExAC,gnomAD
EPHB2	P29323	p.Gly413Ala	rs1287447674	missense variant	-	NC_000001.11:g.22865147G>C	gnomAD
EPHB2	P29323	p.Gly413Ser	rs762628056	missense variant	-	NC_000001.11:g.22865146G>A	ExAC,gnomAD
EPHB2	P29323	p.Val414Ala	rs767437040	missense variant	-	NC_000001.11:g.22865150T>C	ExAC,gnomAD
EPHB2	P29323	p.Val414Ile	rs149014913	missense variant	-	NC_000001.11:g.22865149G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp416Asn	rs866069361	missense variant	-	NC_000001.11:g.22865155G>A	gnomAD
EPHB2	P29323	p.Asp416Glu	rs752527403	missense variant	-	NC_000001.11:g.22865157C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp416Tyr	COSM6062245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22865155G>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Pro419Leu	rs760440909	missense variant	-	NC_000001.11:g.22865165C>T	ExAC,gnomAD
EPHB2	P29323	p.Phe420Leu	rs1394974857	missense variant	-	NC_000001.11:g.22865169C>G	gnomAD
EPHB2	P29323	p.Ser421Leu	rs763823836	missense variant	-	NC_000001.11:g.22865171C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser421Trp	rs763823836	missense variant	-	NC_000001.11:g.22865171C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gln423Pro	rs1376751089	missense variant	-	NC_000001.11:g.22865177A>C	TOPMed
EPHB2	P29323	p.Phe424Leu	rs757431628	missense variant	-	NC_000001.11:g.22865179T>C	ExAC,gnomAD
EPHB2	P29323	p.Phe424Leu	rs778869890	missense variant	-	NC_000001.11:g.22865181C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala425Thr	rs1035921082	missense variant	-	NC_000001.11:g.22865182G>A	TOPMed,gnomAD
EPHB2	P29323	p.Ser426Cys	COSM74530	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22865186C>G	NCI-TCGA Cosmic
EPHB2	P29323	p.Val427Met	rs780688056	missense variant	-	NC_000001.11:g.22865188G>A	ExAC,gnomAD
EPHB2	P29323	p.Ile429Val	rs1030209033	missense variant	-	NC_000001.11:g.22865194A>G	TOPMed
EPHB2	P29323	p.Asn432Asp	rs1273060851	missense variant	-	NC_000001.11:g.22865203A>G	gnomAD
EPHB2	P29323	p.Asn432Ser	rs1300104922	missense variant	-	NC_000001.11:g.22865204A>G	gnomAD
EPHB2	P29323	p.Gln433His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22865208G>C	NCI-TCGA
EPHB2	P29323	p.Ala435Val	rs1249491997	missense variant	-	NC_000001.11:g.22882359C>T	TOPMed,gnomAD
EPHB2	P29323	p.Ser437Leu	rs1022230918	missense variant	-	NC_000001.11:g.22882365C>T	TOPMed,gnomAD
EPHB2	P29323	p.Ser437Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22882364T>C	NCI-TCGA
EPHB2	P29323	p.Ala438Thr	rs1330586270	missense variant	-	NC_000001.11:g.22882367G>A	TOPMed
EPHB2	P29323	p.Ala438Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22882368C>T	NCI-TCGA
EPHB2	P29323	p.Val439Ala	rs934809921	missense variant	-	NC_000001.11:g.22882371T>C	gnomAD
EPHB2	P29323	p.Ile441Val	rs756898839	missense variant	-	NC_000001.11:g.22882376A>G	ExAC,TOPMed
EPHB2	P29323	p.Met442Thr	rs1053225182	missense variant	-	NC_000001.11:g.22882380T>C	TOPMed
EPHB2	P29323	p.His443Tyr	rs778604761	missense variant	-	NC_000001.11:g.22882382C>T	ExAC,gnomAD
EPHB2	P29323	p.Ser446Arg	rs1272962368	missense variant	-	NC_000001.11:g.22882393C>A	gnomAD
EPHB2	P29323	p.Ser446Asn	rs1207656881	missense variant	-	NC_000001.11:g.22882392G>A	TOPMed,gnomAD
EPHB2	P29323	p.Ser446Ile	rs1207656881	missense variant	-	NC_000001.11:g.22882392G>T	TOPMed,gnomAD
EPHB2	P29323	p.Arg447His	rs771598124	missense variant	-	NC_000001.11:g.22882395G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg447Cys	rs199940448	missense variant	-	NC_000001.11:g.22882394C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr448Ser	rs1189086300	missense variant	-	NC_000001.11:g.22882397A>T	TOPMed
EPHB2	P29323	p.Thr448Ile	rs1236853618	missense variant	-	NC_000001.11:g.22882398C>T	gnomAD
EPHB2	P29323	p.Val449Met	rs369350136	missense variant	-	NC_000001.11:g.22882400G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser451Gly	rs768622376	missense variant	-	NC_000001.11:g.22882406A>G	ExAC,gnomAD
EPHB2	P29323	p.Thr453Pro	rs1421327677	missense variant	-	NC_000001.11:g.22882412A>C	TOPMed
EPHB2	P29323	p.Ser457Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22882425C>T	NCI-TCGA
EPHB2	P29323	p.Gln458His	rs1327890307	missense variant	-	NC_000001.11:g.22882429G>C	gnomAD
EPHB2	P29323	p.Gln458Arg	rs764896361	missense variant	-	NC_000001.11:g.22882428A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Pro459Leu	rs773604400	missense variant	-	NC_000001.11:g.22882431C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp460Glu	rs549459711	missense variant	-	NC_000001.11:g.22882435C>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp460Gly	rs1392511828	missense variant	-	NC_000001.11:g.22882434A>G	gnomAD
EPHB2	P29323	p.Asn463Ser	rs377028693	missense variant	-	NC_000001.11:g.22882443A>G	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly464Ser	COSM4029509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22882445G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Val465Met	rs371215652	missense variant	-	NC_000001.11:g.22882448G>A	ESP,TOPMed,gnomAD
EPHB2	P29323	p.Val465Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22882448G>T	NCI-TCGA
EPHB2	P29323	p.Gln472Pro	rs756522907	missense variant	-	NC_000001.11:g.22882470A>C	ExAC,gnomAD
EPHB2	P29323	p.Tyr474Cys	rs138869509	missense variant	-	NC_000001.11:g.22882476A>G	ESP,ExAC,gnomAD
EPHB2	P29323	p.Tyr474His	COSM1340135	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22882475T>C	NCI-TCGA Cosmic
EPHB2	P29323	p.Lys476Glu	rs757986859	missense variant	-	NC_000001.11:g.22882481A>G	ExAC,gnomAD
EPHB2	P29323	p.Glu477Lys	rs138075206	missense variant	-	NC_000001.11:g.22892884G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Leu478Val	rs774732880	missense variant	-	NC_000001.11:g.22892887C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Leu478Ile	rs774732880	missense variant	-	NC_000001.11:g.22892887C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser479Gly	rs1432200286	missense variant	-	NC_000001.11:g.22892890A>G	TOPMed
EPHB2	P29323	p.Ser479Asn	rs759633255	missense variant	-	NC_000001.11:g.22892891G>A	ExAC,gnomAD
EPHB2	P29323	p.Glu480Lys	rs772198021	missense variant	-	NC_000001.11:g.22892893G>A	ExAC
EPHB2	P29323	p.Tyr481Ter	rs761300345	stop gained	-	NC_000001.11:g.22892898C>A	ExAC,TOPMed
EPHB2	P29323	p.Tyr481His	rs775374349	missense variant	-	NC_000001.11:g.22892896T>C	ExAC,gnomAD
EPHB2	P29323	p.Asn482Lys	rs762189253	missense variant	-	NC_000001.11:g.22892901C>A	ExAC,TOPMed
EPHB2	P29323	p.Asn482Thr	rs764578709	missense variant	-	NC_000001.11:g.22892900A>C	ExAC,gnomAD
EPHB2	P29323	p.Asn482Ser	rs764578709	missense variant	-	NC_000001.11:g.22892900A>G	ExAC,gnomAD
EPHB2	P29323	p.Ala483Pro	rs576616864	missense variant	-	NC_000001.11:g.22892902G>C	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Ala483Thr	rs576616864	missense variant	-	NC_000001.11:g.22892902G>A	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Thr484Pro	rs116848191	missense variant	-	NC_000001.11:g.22892905A>C	ExAC,gnomAD
EPHB2	P29323	p.Ala485Val	rs756162736	missense variant	-	NC_000001.11:g.22892909C>T	ExAC,gnomAD
EPHB2	P29323	p.Lys487Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22892914A>T	NCI-TCGA
EPHB2	P29323	p.Pro489Ser	rs867115042	missense variant	-	NC_000001.11:g.22892920C>T	TOPMed
EPHB2	P29323	p.Pro489Thr	rs867115042	missense variant	-	NC_000001.11:g.22892920C>A	TOPMed
EPHB2	P29323	p.Pro489Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22892921C>T	NCI-TCGA
EPHB2	P29323	p.Asn491Lys	rs777829293	missense variant	-	NC_000001.11:g.22892928C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr492Lys	rs749185690	missense variant	-	NC_000001.11:g.22892930C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr492Met	rs749185690	missense variant	-	NC_000001.11:g.22892930C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val493Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22892933T>A	NCI-TCGA
EPHB2	P29323	p.Val495Met	rs201691912	missense variant	-	NC_000001.11:g.22892938G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly497Asp	rs772170964	missense variant	-	NC_000001.11:g.22892945G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly501Ser	rs373865135	missense variant	-	NC_000001.11:g.22892956G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala502Thr	rs777155810	missense variant	-	NC_000001.11:g.22892959G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Tyr504Ser	rs762242282	missense variant	-	NC_000001.11:g.22892966A>C	ExAC,gnomAD
EPHB2	P29323	p.Val505Ile	rs1245548751	missense variant	-	NC_000001.11:g.22892968G>A	TOPMed
EPHB2	P29323	p.Val505Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22892969T>G	NCI-TCGA
EPHB2	P29323	p.Gln507Arg	rs1455229794	missense variant	-	NC_000001.11:g.22892975A>G	gnomAD
EPHB2	P29323	p.Gln507His	rs765600046	missense variant	-	NC_000001.11:g.22892976G>C	ExAC,gnomAD
EPHB2	P29323	p.Gln507ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.22892973C>-	NCI-TCGA
EPHB2	P29323	p.Arg509Gln	rs773439627	missense variant	-	NC_000001.11:g.22892981G>A	ExAC,gnomAD
EPHB2	P29323	p.Arg509Trp	rs1406555949	missense variant	-	NC_000001.11:g.22892980C>T	gnomAD
EPHB2	P29323	p.Arg511Cys	rs759303586	missense variant	-	NC_000001.11:g.22892986C>T	ExAC,gnomAD
EPHB2	P29323	p.Arg511His	rs767048571	missense variant	-	NC_000001.11:g.22892987G>A	ExAC,gnomAD
EPHB2	P29323	p.Val513Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22892993T>G	NCI-TCGA
EPHB2	P29323	p.Val513Met	rs531840904	missense variant	-	NC_000001.11:g.22892992G>A	TOPMed,gnomAD
EPHB2	P29323	p.Gly517Glu	rs1225749311	missense variant	-	NC_000001.11:g.22893005G>A	gnomAD
EPHB2	P29323	p.Gly517Arg	COSM3804346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22893004G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Arg518Leu	rs1332461819	missense variant	-	NC_000001.11:g.22893008G>T	TOPMed,gnomAD
EPHB2	P29323	p.Arg518Cys	rs369387828	missense variant	-	NC_000001.11:g.22893007C>T	ESP,ExAC,gnomAD
EPHB2	P29323	p.Arg518His	rs1332461819	missense variant	-	NC_000001.11:g.22893008G>A	TOPMed,gnomAD
EPHB2	P29323	p.Gly521Ser	rs953288463	missense variant	-	NC_000001.11:g.22893016G>A	TOPMed,gnomAD
EPHB2	P29323	p.Lys522Glu	rs780164151	missense variant	-	NC_000001.11:g.22893019A>G	ExAC,gnomAD
EPHB2	P29323	p.Met523Leu	rs1231826239	missense variant	-	NC_000001.11:g.22893022A>T	TOPMed,gnomAD
EPHB2	P29323	p.Met523Val	rs1231826239	missense variant	-	NC_000001.11:g.22893022A>G	TOPMed,gnomAD
EPHB2	P29323	p.Met523Ile	rs973792941	missense variant	-	NC_000001.11:g.22893024G>A	TOPMed,gnomAD
EPHB2	P29323	p.Tyr524Ser	rs1183951115	missense variant	-	NC_000001.11:g.22893026A>C	gnomAD
EPHB2	P29323	p.Phe525Leu	rs1415181342	missense variant	-	NC_000001.11:g.22893030C>G	gnomAD
EPHB2	P29323	p.Met528Thr	rs1282208085	missense variant	-	NC_000001.11:g.22893038T>C	TOPMed
EPHB2	P29323	p.Met528Val	rs1374313440	missense variant	-	NC_000001.11:g.22893037A>G	TOPMed
EPHB2	P29323	p.Met528Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22893039G>A	NCI-TCGA
EPHB2	P29323	p.Met528Leu	rs1374313440	missense variant	-	NC_000001.11:g.22893037A>T	TOPMed
EPHB2	P29323	p.Glu530Lys	rs1166143294	missense variant	-	NC_000001.11:g.22893043G>A	gnomAD
EPHB2	P29323	p.Glu530Gly	rs747193087	missense variant	-	NC_000001.11:g.22893044A>G	ExAC,gnomAD
EPHB2	P29323	p.Glu532Lys	rs1415641222	missense variant	-	NC_000001.11:g.22895474G>A	TOPMed,gnomAD
EPHB2	P29323	p.Tyr533Asp	rs1329134640	missense variant	-	NC_000001.11:g.22895477T>G	TOPMed
EPHB2	P29323	p.Gln534His	rs781320568	missense variant	-	NC_000001.11:g.22895482G>C	ExAC,gnomAD
EPHB2	P29323	p.Thr535Ile	rs748199133	missense variant	-	NC_000001.11:g.22895484C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Lys540Glu	rs770385181	missense variant	-	NC_000001.11:g.22895498A>G	ExAC,gnomAD
EPHB2	P29323	p.Pro542Thr	rs1310835470	missense variant	-	NC_000001.11:g.22895504C>A	TOPMed
EPHB2	P29323	p.Pro542Leu	rs778168582	missense variant	-	NC_000001.11:g.22895505C>T	ExAC,gnomAD
EPHB2	P29323	p.Leu543Phe	COSM1473612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22895507C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Ile544Val	rs749760761	missense variant	-	NC_000001.11:g.22895510A>G	ExAC,gnomAD
EPHB2	P29323	p.Ile545Leu	rs757519358	missense variant	-	NC_000001.11:g.22895513A>C	gnomAD
EPHB2	P29323	p.Ile545Val	rs757519358	missense variant	-	NC_000001.11:g.22895513A>G	gnomAD
EPHB2	P29323	p.Gly546Ser	rs781521914	missense variant	-	NC_000001.11:g.22895516G>A	TOPMed
EPHB2	P29323	p.Ser547Phe	rs1167996030	missense variant	-	NC_000001.11:g.22895520C>T	TOPMed,gnomAD
EPHB2	P29323	p.Ser548Leu	rs760460779	missense variant	-	NC_000001.11:g.22895523C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser548Pro	rs774794171	missense variant	-	NC_000001.11:g.22895522T>C	ExAC,gnomAD
EPHB2	P29323	p.Ala549Val	rs776319824	missense variant	-	NC_000001.11:g.22895526C>T	ExAC,gnomAD
EPHB2	P29323	p.Ala550Ser	rs144480560	missense variant	-	NC_000001.11:g.22895528G>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala550Thr	rs144480560	missense variant	-	NC_000001.11:g.22895528G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly551Ala	rs991894179	missense variant	-	NC_000001.11:g.22895532G>C	TOPMed
EPHB2	P29323	p.Leu555Phe	rs1430266513	missense variant	-	NC_000001.11:g.22895543C>T	gnomAD
EPHB2	P29323	p.Ile556Val	rs762890509	missense variant	-	NC_000001.11:g.22895546A>G	ExAC,gnomAD
EPHB2	P29323	p.Ile556Met	rs1435412228	missense variant	-	NC_000001.11:g.22895548T>G	TOPMed,gnomAD
EPHB2	P29323	p.Ala562Thr	rs199607174	missense variant	-	NC_000001.11:g.22895564G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val564Met	rs777839383	missense variant	-	NC_000001.11:g.22895570G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asn566Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22895577A>G	NCI-TCGA
EPHB2	P29323	p.Arg567Gly	rs1301156685	missense variant	-	NC_000001.11:g.22895579A>G	gnomAD
EPHB2	P29323	p.Arg568Trp	rs200219468	missense variant	-	NC_000001.11:g.22896415C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg568Gln	rs1248584369	missense variant	-	NC_000001.11:g.22896416G>A	gnomAD
EPHB2	P29323	p.Glu571Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22896426G>T	NCI-TCGA
EPHB2	P29323	p.Arg572Cys	rs769484630	missense variant	-	NC_000001.11:g.22896427C>T	ExAC,gnomAD
EPHB2	P29323	p.Arg572His	rs772642109	missense variant	-	NC_000001.11:g.22896428G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala573Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22896431C>T	NCI-TCGA
EPHB2	P29323	p.Ser575Ter	rs146071874	stop gained	-	NC_000001.11:g.22896437C>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser575Leu	rs146071874	missense variant	-	NC_000001.11:g.22896437C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Glu576Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22896439G>A	NCI-TCGA
EPHB2	P29323	p.Thr578Met	rs375717760	missense variant	-	NC_000001.11:g.22896446C>T	ESP,TOPMed,gnomAD
EPHB2	P29323	p.Asp579Asn	rs1308309622	missense variant	-	NC_000001.11:g.22896448G>A	gnomAD
EPHB2	P29323	p.Leu581Gln	rs1412469420	missense variant	-	NC_000001.11:g.22896455T>A	gnomAD
EPHB2	P29323	p.Gln582Glu	rs760868935	missense variant	-	NC_000001.11:g.22896457C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.His583Arg	rs1247714705	missense variant	-	NC_000001.11:g.22896461A>G	gnomAD
EPHB2	P29323	p.His583Gln	rs753914148	missense variant	-	NC_000001.11:g.22896462C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Tyr584Cys	rs1016048705	missense variant	-	NC_000001.11:g.22896464A>G	TOPMed,gnomAD
EPHB2	P29323	p.Gly587Ser	rs931241476	missense variant	-	NC_000001.11:g.22896472G>A	TOPMed,gnomAD
EPHB2	P29323	p.His588Asp	rs758962722	missense variant	-	NC_000001.11:g.22896475C>G	ExAC,gnomAD
EPHB2	P29323	p.His588Gln	rs780632769	missense variant	-	NC_000001.11:g.22896477C>G	ExAC,gnomAD
EPHB2	P29323	p.Met589Val	rs747369297	missense variant	-	NC_000001.11:g.22896478A>G	ExAC,gnomAD
EPHB2	P29323	p.Met589Leu	rs747369297	missense variant	-	NC_000001.11:g.22896478A>C	ExAC,gnomAD
EPHB2	P29323	p.Pro591Ser	rs756887162	missense variant	-	NC_000001.11:g.22905992C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly592Val	COSM4938994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22905996G>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Ile595Val	rs1384633685	missense variant	-	NC_000001.11:g.22906004A>G	TOPMed,gnomAD
EPHB2	P29323	p.Asp598Asn	rs1368925967	missense variant	-	NC_000001.11:g.22906013G>A	TOPMed,gnomAD
EPHB2	P29323	p.Asp598Asn	rs1368925967	missense variant	-	NC_000001.11:g.22906013G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Pro599Leu	rs948491186	missense variant	-	NC_000001.11:g.22906017C>T	TOPMed
EPHB2	P29323	p.Tyr602IlePheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22906024_22906025insATTTTTCTGTAAGGGAACAGATAGTAAA	NCI-TCGA
EPHB2	P29323	p.Glu603Lys	rs906968203	missense variant	-	NC_000001.11:g.22906028G>A	TOPMed,gnomAD
EPHB2	P29323	p.Pro605Ala	rs780062584	missense variant	-	NC_000001.11:g.22906034C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asn606Ser	rs558302888	missense variant	-	NC_000001.11:g.22906038A>G	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asn606Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906038A>T	NCI-TCGA
EPHB2	P29323	p.Glu607Lys	COSM1687178	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22906040G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Ala608Val	rs776278539	missense variant	-	NC_000001.11:g.22906044C>T	ExAC,gnomAD
EPHB2	P29323	p.Arg610Trp	rs770109876	missense variant	-	NC_000001.11:g.22906049C>T	ExAC,gnomAD
EPHB2	P29323	p.Arg610Gln	rs773475701	missense variant	-	NC_000001.11:g.22906050G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg610Pro	rs773475701	missense variant	-	NC_000001.11:g.22906050G>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Glu611Lys	rs1425174126	missense variant	-	NC_000001.11:g.22906052G>A	gnomAD
EPHB2	P29323	p.Glu611Lys	rs1425174126	missense variant	-	NC_000001.11:g.22906052G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Ala613Thr	rs763150677	missense variant	-	NC_000001.11:g.22906058G>A	ExAC,gnomAD
EPHB2	P29323	p.Lys614Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906062A>G	NCI-TCGA
EPHB2	P29323	p.Glu615Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906065A>G	NCI-TCGA
EPHB2	P29323	p.Glu615Lys	COSM131754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22906064G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Asp617Gly	rs1156481803	missense variant	-	NC_000001.11:g.22906071A>G	TOPMed,gnomAD
EPHB2	P29323	p.Ile618Phe	rs766333596	missense variant	-	NC_000001.11:g.22906073A>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ile618Val	rs766333596	missense variant	-	NC_000001.11:g.22906073A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ile618Asn	rs200952273	missense variant	-	NC_000001.11:g.22906074T>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser619Phe	rs1392948771	missense variant	-	NC_000001.11:g.22906077C>T	gnomAD
EPHB2	P29323	p.Cys620Arg	rs149475426	missense variant	-	NC_000001.11:g.22906079T>C	ESP,ExAC,gnomAD
EPHB2	P29323	p.Lys622Arg	rs767980355	missense variant	-	NC_000001.11:g.22906086A>G	ExAC,gnomAD
EPHB2	P29323	p.Ile623Thr	rs753050736	missense variant	-	NC_000001.11:g.22906089T>C	ExAC,gnomAD
EPHB2	P29323	p.Gln625Arg	rs756940384	missense variant	-	NC_000001.11:g.22906095A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ile627Phe	rs1306520370	missense variant	-	NC_000001.11:g.22906100A>T	gnomAD
EPHB2	P29323	p.Gly628Arg	rs750026662	missense variant	-	NC_000001.11:g.22906103G>A	ExAC
EPHB2	P29323	p.Gly628Glu	rs757935489	missense variant	-	NC_000001.11:g.22906104G>A	ExAC,gnomAD
EPHB2	P29323	p.Phe632Ser	rs1169792153	missense variant	-	NC_000001.11:g.22906716T>C	TOPMed
EPHB2	P29323	p.Gly633Cys	rs201626283	missense variant	-	NC_000001.11:g.22906718G>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Cys636Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906728G>A	NCI-TCGA
EPHB2	P29323	p.Cys636Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22906729C>A	NCI-TCGA
EPHB2	P29323	p.Ser637Asn	rs569960708	missense variant	-	NC_000001.11:g.22906731G>A	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Gly638Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906734G>A	NCI-TCGA
EPHB2	P29323	p.Pro643Ala	rs757928772	missense variant	-	NC_000001.11:g.22906748C>G	ExAC,gnomAD
EPHB2	P29323	p.Gly644Cys	rs751002092	missense variant	-	NC_000001.11:g.22906751G>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly644Val	rs1381291444	missense variant	-	NC_000001.11:g.22906752G>T	gnomAD
EPHB2	P29323	p.Lys645Arg	rs754994261	missense variant	-	NC_000001.11:g.22906755A>G	ExAC,gnomAD
EPHB2	P29323	p.Ile648Val	rs1320967724	missense variant	-	NC_000001.11:g.22906763A>G	gnomAD
EPHB2	P29323	p.Ile648Asn	rs781301341	missense variant	-	NC_000001.11:g.22906764T>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val650Ala	rs142173175	missense variant	-	NC_000001.11:g.22906770T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ile652Met	rs55927202	missense variant	-	NC_000001.11:g.22906777C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr654Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906782C>T	NCI-TCGA
EPHB2	P29323	p.Lys656ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.22906787_22906788AA>-	NCI-TCGA
EPHB2	P29323	p.Ser657Leu	rs202216139	missense variant	-	NC_000001.11:g.22906791C>T	-
EPHB2	P29323	p.Ser657Leu	rs202216139	missense variant	-	NC_000001.11:g.22906791C>T	NCI-TCGA
EPHB2	P29323	p.Gly658Cys	rs772138917	missense variant	-	NC_000001.11:g.22906793G>T	ExAC,gnomAD
EPHB2	P29323	p.Thr660Met	rs761101394	missense variant	-	NC_000001.11:g.22906800C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg664Cys	rs1172063792	missense variant	-	NC_000001.11:g.22906811C>T	gnomAD
EPHB2	P29323	p.Arg664His	rs776976214	missense variant	-	NC_000001.11:g.22906812G>A	ExAC,gnomAD
EPHB2	P29323	p.Arg664Cys	rs1172063792	missense variant	-	NC_000001.11:g.22906811C>T	NCI-TCGA
EPHB2	P29323	p.Arg665Gly	rs762707747	missense variant	-	NC_000001.11:g.22906814C>G	ExAC,gnomAD
EPHB2	P29323	p.Arg665Gln	rs534341737	missense variant	-	NC_000001.11:g.22906815G>A	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Arg665Gln	rs534341737	missense variant	-	NC_000001.11:g.22906815G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Arg665Trp	rs762707747	missense variant	-	NC_000001.11:g.22906814C>T	ExAC,gnomAD
EPHB2	P29323	p.Leu668Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906824T>C	NCI-TCGA
EPHB2	P29323	p.Glu670Lys	rs754481306	missense variant	-	NC_000001.11:g.22906829G>A	ExAC,gnomAD
EPHB2	P29323	p.Ala671Thr	rs1466394350	missense variant	-	NC_000001.11:g.22906832G>A	gnomAD
EPHB2	P29323	p.Ile673Val	rs767071857	missense variant	-	NC_000001.11:g.22906838A>G	ExAC,gnomAD
EPHB2	P29323	p.Ile673Thr	rs1365356903	missense variant	-	NC_000001.11:g.22906839T>C	gnomAD
EPHB2	P29323	p.Asp678Tyr	rs28936395	missense variant	-	NC_000001.11:g.22906853G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp678Glu	rs757754267	missense variant	-	NC_000001.11:g.22906855C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp678Asn	rs28936395	missense variant	-	NC_000001.11:g.22906853G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp678Asn	rs28936395	missense variant	-	NC_000001.11:g.22906853G>A	UniProt,dbSNP
EPHB2	P29323	p.Asp678Asn	VAR_042174	missense variant	-	NC_000001.11:g.22906853G>A	UniProt
EPHB2	P29323	p.Asp678Asn	RCV000009060	missense variant	Prostate cancer/brain cancer susceptibility	NC_000001.11:g.22906853G>A	ClinVar
EPHB2	P29323	p.His679Asn	VAR_032856	Missense	-	-	UniProt
EPHB2	P29323	p.Asn681Lys	rs753541903	missense variant	-	NC_000001.11:g.22906864C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val682Ile	rs779022970	missense variant	-	NC_000001.11:g.22906865G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val682Ile	rs779022970	missense variant	-	NC_000001.11:g.22906865G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Ile683Asn	rs959654720	missense variant	-	NC_000001.11:g.22906869T>A	TOPMed,gnomAD
EPHB2	P29323	p.Ile683Thr	rs959654720	missense variant	-	NC_000001.11:g.22906869T>C	TOPMed,gnomAD
EPHB2	P29323	p.His684Arg	rs969328738	missense variant	-	NC_000001.11:g.22906872A>G	TOPMed
EPHB2	P29323	p.Leu685Met	rs763859817	missense variant	-	NC_000001.11:g.22906874C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly687Asp	COSM3485148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22906881G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Val689Met	rs372886782	missense variant	-	NC_000001.11:g.22906886G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val689Gly	rs1191865394	missense variant	-	NC_000001.11:g.22906887T>G	TOPMed,gnomAD
EPHB2	P29323	p.Lys691Glu	rs747571749	missense variant	-	NC_000001.11:g.22906892A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Met696Ile	COSM3485151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22906909G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Thr699Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906917C>T	NCI-TCGA
EPHB2	P29323	p.Glu700Val	rs777029414	missense variant	-	NC_000001.11:g.22906920A>T	ExAC,gnomAD
EPHB2	P29323	p.Glu700Lys	rs1427054038	missense variant	-	NC_000001.11:g.22906919G>A	gnomAD
EPHB2	P29323	p.Phe701Ile	rs1412477060	missense variant	-	NC_000001.11:g.22906922T>A	gnomAD
EPHB2	P29323	p.Met702Val	rs762109849	missense variant	-	NC_000001.11:g.22906925A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Met702Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906926T>A	NCI-TCGA
EPHB2	P29323	p.Met702Ile	COSM4898615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22906927G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Glu703Lys	rs1487133708	missense variant	-	NC_000001.11:g.22906928G>A	TOPMed
EPHB2	P29323	p.Glu703Ter	COSM1584186	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.22906928G>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Asn704Ser	rs1454961505	missense variant	-	NC_000001.11:g.22906932A>G	gnomAD
EPHB2	P29323	p.Gly705Asp	rs1161108035	missense variant	-	NC_000001.11:g.22906935G>A	gnomAD
EPHB2	P29323	p.Ser709Phe	rs1323321999	missense variant	-	NC_000001.11:g.22906947C>T	gnomAD
EPHB2	P29323	p.Leu711Ile	rs1257690796	missense variant	-	NC_000001.11:g.22906952C>A	TOPMed
EPHB2	P29323	p.Leu711His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22906953T>A	NCI-TCGA
EPHB2	P29323	p.Arg712Leu	rs150002185	missense variant	-	NC_000001.11:g.22906956G>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg712Gln	rs150002185	missense variant	-	NC_000001.11:g.22906956G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg712Trp	rs375886598	missense variant	-	NC_000001.11:g.22906955C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp715Tyr	rs751896309	missense variant	-	NC_000001.11:g.22907959G>T	TOPMed
EPHB2	P29323	p.Asp715Asn	rs751896309	missense variant	-	NC_000001.11:g.22907959G>A	TOPMed
EPHB2	P29323	p.Asp715Asn	rs751896309	missense variant	-	NC_000001.11:g.22907959G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Gly716Arg	rs1252348957	missense variant	-	NC_000001.11:g.22907962G>A	gnomAD
EPHB2	P29323	p.Gly716Val	rs1473430443	missense variant	-	NC_000001.11:g.22907963G>T	gnomAD
EPHB2	P29323	p.Phe718Leu	rs773617571	missense variant	-	NC_000001.11:g.22907968T>C	ExAC,gnomAD
EPHB2	P29323	p.Ile721Val	rs1451810268	missense variant	-	NC_000001.11:g.22907977A>G	TOPMed
EPHB2	P29323	p.Gln722Ter	rs121912582	stop gained	-	NC_000001.11:g.22907980C>T	-
EPHB2	P29323	p.Gln722Ter	RCV000009058	nonsense	Prostate cancer/brain cancer susceptibility	NC_000001.11:g.22907980C>T	ClinVar
EPHB2	P29323	p.Val724Leu	rs1018379423	missense variant	-	NC_000001.11:g.22907986G>T	TOPMed,gnomAD
EPHB2	P29323	p.Gly725Cys	rs1368101104	missense variant	-	NC_000001.11:g.22907989G>T	gnomAD
EPHB2	P29323	p.Arg728Gln	rs771816281	missense variant	-	NC_000001.11:g.22907999G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg728Trp	rs1428775058	missense variant	-	NC_000001.11:g.22907998C>T	gnomAD
EPHB2	P29323	p.Ala731Thr	rs142161660	missense variant	-	NC_000001.11:g.22908007G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala731Thr	rs142161660	missense variant	-	NC_000001.11:g.22908007G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Met734Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22908018G>T	NCI-TCGA
EPHB2	P29323	p.Met734Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22908018G>A	NCI-TCGA
EPHB2	P29323	p.Lys735Arg	rs1312406683	missense variant	-	NC_000001.11:g.22908020A>G	gnomAD
EPHB2	P29323	p.Arg745Cys	rs761749948	missense variant	-	NC_000001.11:g.22908049C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg745Gly	rs761749948	missense variant	-	NC_000001.11:g.22908049C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg745Cys	RCV000782357	missense variant	BLEEDING DISORDER, PLATELET-TYPE, 22 (BDPLT22)	NC_000001.11:g.22908049C>T	ClinVar
EPHB2	P29323	p.Arg745Cys	VAR_082702	Missense	Bleeding disorder, platelet-type 22 (BDPLT22) [MIM:618462]	-	UniProt
EPHB2	P29323	p.Ala749Val	rs750228061	missense variant	-	NC_000001.11:g.22908062C>T	ExAC,gnomAD
EPHB2	P29323	p.Ala749Ser	rs1277014809	missense variant	-	NC_000001.11:g.22908061G>T	gnomAD
EPHB2	P29323	p.Arg750His	rs1325727933	missense variant	-	NC_000001.11:g.22908065G>A	TOPMed
EPHB2	P29323	p.Asn751Ser	rs1198551980	missense variant	-	NC_000001.11:g.22908068A>G	gnomAD
EPHB2	P29323	p.Ile752Val	rs758669097	missense variant	-	NC_000001.11:g.22908070A>G	ExAC,gnomAD
EPHB2	P29323	p.Val754Ile	rs201892962	missense variant	-	NC_000001.11:g.22908076G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asn755Ser	rs1016662258	missense variant	-	NC_000001.11:g.22908080A>G	gnomAD
EPHB2	P29323	p.Ser756Asn	rs748663703	missense variant	-	NC_000001.11:g.22908083G>A	ExAC,gnomAD
EPHB2	P29323	p.Ser756Gly	rs1372053495	missense variant	-	NC_000001.11:g.22908082A>G	TOPMed,gnomAD
EPHB2	P29323	p.Val759Ala	rs778043794	missense variant	-	NC_000001.11:g.22908092T>C	ExAC,gnomAD
EPHB2	P29323	p.Val759Ile	rs201156841	missense variant	-	NC_000001.11:g.22908091G>A	-
EPHB2	P29323	p.Val759Ile	rs201156841	missense variant	-	NC_000001.11:g.22908091G>A	NCI-TCGA
EPHB2	P29323	p.Lys761Arg	rs749643372	missense variant	-	NC_000001.11:g.22908098A>G	ExAC,gnomAD
EPHB2	P29323	p.Ser763Trp	rs1319090631	missense variant	-	NC_000001.11:g.22908104C>G	gnomAD
EPHB2	P29323	p.Phe765Val	rs1299870308	missense variant	-	NC_000001.11:g.22908109T>G	gnomAD
EPHB2	P29323	p.Arg769His	rs1490098691	missense variant	-	NC_000001.11:g.22908122G>A	TOPMed
EPHB2	P29323	p.Arg769Cys	rs367548936	missense variant	-	NC_000001.11:g.22908121C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg769Cys	rs367548936	missense variant	-	NC_000001.11:g.22908121C>T	NCI-TCGA
EPHB2	P29323	p.Phe770Ser	rs746591241	missense variant	-	NC_000001.11:g.22908125T>C	ExAC,gnomAD
EPHB2	P29323	p.Asp773Asn	rs761721854	missense variant	-	NC_000001.11:g.22908133G>A	ExAC,gnomAD
EPHB2	P29323	p.Asp774Asn	rs527440163	missense variant	-	NC_000001.11:g.22908136G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr775Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22908139A>G	NCI-TCGA
EPHB2	P29323	p.Asp777Ala	rs762768940	missense variant	-	NC_000001.11:g.22908146A>C	ExAC,gnomAD
EPHB2	P29323	p.Pro778His	rs1431151666	missense variant	-	NC_000001.11:g.22908149C>A	gnomAD
EPHB2	P29323	p.Pro778Arg	rs1431151666	missense variant	-	NC_000001.11:g.22908149C>G	gnomAD
EPHB2	P29323	p.Thr779Ala	rs1174905857	missense variant	-	NC_000001.11:g.22908151A>G	TOPMed,gnomAD
EPHB2	P29323	p.Ser782Arg	COSM3485164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22908162T>G	NCI-TCGA Cosmic
EPHB2	P29323	p.Gly786Arg	rs138551214	missense variant	-	NC_000001.11:g.22909025G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly786Arg	RCV000434509	missense variant	Neoplasm of the large intestine	NC_000001.11:g.22909025G>A	ClinVar
EPHB2	P29323	p.Lys787Glu	rs754408035	missense variant	-	NC_000001.11:g.22909028A>G	ExAC,gnomAD
EPHB2	P29323	p.Lys787Gln	rs754408035	missense variant	-	NC_000001.11:g.22909028A>C	ExAC,gnomAD
EPHB2	P29323	p.Lys787Asn	rs1341243574	missense variant	-	NC_000001.11:g.22909030G>T	gnomAD
EPHB2	P29323	p.Pro789Ser	COSM3485173	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22909034C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Arg791Leu	rs750785637	missense variant	-	NC_000001.11:g.22909041G>T	ExAC,gnomAD
EPHB2	P29323	p.Arg791Cys	rs369660719	missense variant	-	NC_000001.11:g.22909040C>T	ESP,ExAC,gnomAD
EPHB2	P29323	p.Arg791His	rs750785637	missense variant	-	NC_000001.11:g.22909041G>A	ExAC,gnomAD
EPHB2	P29323	p.Arg791Cys	rs369660719	missense variant	-	NC_000001.11:g.22909040C>T	NCI-TCGA
EPHB2	P29323	p.Trp792Ter	rs1460220867	stop gained	-	NC_000001.11:g.22909044G>A	TOPMed
EPHB2	P29323	p.Trp792Ter	rs1460220867	stop gained	-	NC_000001.11:g.22909044G>A	NCI-TCGA
EPHB2	P29323	p.Thr793Ile	rs1039363543	missense variant	-	NC_000001.11:g.22909047C>T	gnomAD
EPHB2	P29323	p.Ala794Val	rs1185038656	missense variant	-	NC_000001.11:g.22909050C>T	TOPMed,gnomAD
EPHB2	P29323	p.Ala794Asp	rs1185038656	missense variant	-	NC_000001.11:g.22909050C>A	TOPMed,gnomAD
EPHB2	P29323	p.Pro795Leu	rs372696024	missense variant	-	NC_000001.11:g.22909053C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala797Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22909059C>T	NCI-TCGA
EPHB2	P29323	p.Gln799His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22909066G>T	NCI-TCGA
EPHB2	P29323	p.Arg801Gln	rs376209284	missense variant	-	NC_000001.11:g.22909071G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Phe803Tyr	rs1428134400	missense variant	-	NC_000001.11:g.22909077T>A	gnomAD
EPHB2	P29323	p.Ser805Leu	rs1281028518	missense variant	-	NC_000001.11:g.22909083C>T	TOPMed,gnomAD
EPHB2	P29323	p.Ser805Trp	rs1281028518	missense variant	-	NC_000001.11:g.22909083C>G	TOPMed,gnomAD
EPHB2	P29323	p.Ser805Thr	rs770827827	missense variant	-	NC_000001.11:g.22909082T>A	ExAC,gnomAD
EPHB2	P29323	p.Ser805Leu	rs1281028518	missense variant	-	NC_000001.11:g.22909083C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Ala806Asp	rs1227619656	missense variant	-	NC_000001.11:g.22909086C>A	gnomAD
EPHB2	P29323	p.Ala806Thr	rs1401298324	missense variant	-	NC_000001.11:g.22909085G>A	TOPMed
EPHB2	P29323	p.Asp808Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22909091G>A	NCI-TCGA
EPHB2	P29323	p.Val809Met	rs376515026	missense variant	-	NC_000001.11:g.22909094G>A	ESP,TOPMed
EPHB2	P29323	p.Val809Ala	rs759393577	missense variant	-	NC_000001.11:g.22909095T>C	ExAC,gnomAD
EPHB2	P29323	p.Val809Ala	rs759393577	missense variant	-	NC_000001.11:g.22909095T>C	NCI-TCGA
EPHB2	P29323	p.Tyr812Cys	rs771721259	missense variant	-	NC_000001.11:g.22909104A>G	ExAC,gnomAD
EPHB2	P29323	p.Ile814Thr	rs1278019324	missense variant	-	NC_000001.11:g.22909110T>C	TOPMed
EPHB2	P29323	p.Met816Thr	rs764325627	missense variant	-	NC_000001.11:g.22909116T>C	ExAC,gnomAD
EPHB2	P29323	p.Met816Ile	rs547041098	missense variant	-	NC_000001.11:g.22909117G>A	gnomAD
EPHB2	P29323	p.Met816Val	COSM905552	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22909115A>G	NCI-TCGA Cosmic
EPHB2	P29323	p.Glu818Gln	rs1372617391	missense variant	-	NC_000001.11:g.22909121G>C	TOPMed
EPHB2	P29323	p.Val819Glu	rs1219908154	missense variant	-	NC_000001.11:g.22909125T>A	TOPMed
EPHB2	P29323	p.Met820Ile	rs762449653	missense variant	-	NC_000001.11:g.22909129G>A	ExAC,gnomAD
EPHB2	P29323	p.Glu824Gly	rs765817197	missense variant	-	NC_000001.11:g.22909140A>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg825Gln	rs758794865	missense variant	-	NC_000001.11:g.22909143G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg825Trp	rs750920618	missense variant	-	NC_000001.11:g.22909142C>T	ExAC
EPHB2	P29323	p.Arg825Gln	rs758794865	missense variant	-	NC_000001.11:g.22909143G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Pro826Ser	rs752455041	missense variant	-	NC_000001.11:g.22909145C>T	ExAC,gnomAD
EPHB2	P29323	p.Asn832Ser	COSM4029522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22909164A>G	NCI-TCGA Cosmic
EPHB2	P29323	p.Gln833Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22909166C>T	NCI-TCGA
EPHB2	P29323	p.Val835Ala	rs1365283999	missense variant	-	NC_000001.11:g.22910383T>C	gnomAD
EPHB2	P29323	p.Val835Ile	rs773783424	missense variant	-	NC_000001.11:g.22910382G>A	ExAC,gnomAD
EPHB2	P29323	p.Ile836Val	rs1272693410	missense variant	-	NC_000001.11:g.22910385A>G	gnomAD
EPHB2	P29323	p.Asn837Ser	rs958570993	missense variant	-	NC_000001.11:g.22910389A>G	gnomAD
EPHB2	P29323	p.Asn837Ser	rs958570993	missense variant	-	NC_000001.11:g.22910389A>G	NCI-TCGA
EPHB2	P29323	p.Ala838Thr	rs763357873	missense variant	-	NC_000001.11:g.22910391G>A	ExAC,gnomAD
EPHB2	P29323	p.Ala838Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22910392C>A	NCI-TCGA
EPHB2	P29323	p.Ile839Met	COSM1473613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22910396T>G	NCI-TCGA Cosmic
EPHB2	P29323	p.Glu840Asp	rs1265310750	missense variant	-	NC_000001.11:g.22910399G>T	gnomAD
EPHB2	P29323	p.Glu840Lys	COSM4836150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22910397G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Tyr843Cys	rs140172215	missense variant	-	NC_000001.11:g.22910407A>G	ESP,ExAC,gnomAD
EPHB2	P29323	p.Tyr843His	rs766835462	missense variant	-	NC_000001.11:g.22910406T>C	ExAC,gnomAD
EPHB2	P29323	p.Arg844Trp	rs55826626	missense variant	-	NC_000001.11:g.22910409C>T	gnomAD
EPHB2	P29323	p.Arg844Trp	rs55826626	missense variant	-	NC_000001.11:g.22910409C>T	NCI-TCGA
EPHB2	P29323	p.Arg844Gln	rs755816176	missense variant	-	NC_000001.11:g.22910410G>A	ExAC,gnomAD
EPHB2	P29323	p.Arg844Gln	rs755816176	missense variant	-	NC_000001.11:g.22910410G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Pro846Ala	rs763762613	missense variant	-	NC_000001.11:g.22910415C>G	ExAC,gnomAD
EPHB2	P29323	p.Pro847Leu	rs753443717	missense variant	-	NC_000001.11:g.22910419C>T	ExAC,gnomAD
EPHB2	P29323	p.Cys851Tyr	rs778333741	missense variant	-	NC_000001.11:g.22910431G>A	ExAC,gnomAD
EPHB2	P29323	p.Pro852Leu	rs758261769	missense variant	-	NC_000001.11:g.22910434C>T	ExAC,gnomAD
EPHB2	P29323	p.Pro852Arg	rs758261769	missense variant	-	NC_000001.11:g.22910434C>G	ExAC,gnomAD
EPHB2	P29323	p.Ser853Gly	rs746756760	missense variant	-	NC_000001.11:g.22910436A>G	ExAC,gnomAD
EPHB2	P29323	p.Ala854Thr	rs549199396	missense variant	-	NC_000001.11:g.22910439G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala854Thr	rs549199396	missense variant	-	NC_000001.11:g.22910439G>A	NCI-TCGA
EPHB2	P29323	p.Leu858Arg	rs759404153	missense variant	-	NC_000001.11:g.22910452T>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Leu858His	rs759404153	missense variant	-	NC_000001.11:g.22910452T>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp861Gly	rs1285652571	missense variant	-	NC_000001.11:g.22910461A>G	gnomAD
EPHB2	P29323	p.Trp863Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22910468G>A	NCI-TCGA
EPHB2	P29323	p.Trp863Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22910467G>A	NCI-TCGA
EPHB2	P29323	p.Arg867His	rs1228368009	missense variant	-	NC_000001.11:g.22910479G>A	gnomAD
EPHB2	P29323	p.Arg867Gly	rs1349014912	missense variant	-	NC_000001.11:g.22910478C>G	gnomAD
EPHB2	P29323	p.Arg867Cys	COSM3864761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22910478C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Asn868Ser	rs1269301824	missense variant	-	NC_000001.11:g.22910482A>G	gnomAD
EPHB2	P29323	p.Arg870Trp	rs1353409966	missense variant	-	NC_000001.11:g.22910487C>T	gnomAD
EPHB2	P29323	p.Arg870Gln	rs1208166889	missense variant	-	NC_000001.11:g.22910488G>A	gnomAD
EPHB2	P29323	p.Arg870Trp	rs1353409966	missense variant	-	NC_000001.11:g.22910487C>T	NCI-TCGA
EPHB2	P29323	p.Pro871Leu	rs763557854	missense variant	-	NC_000001.11:g.22910491C>T	ExAC,gnomAD
EPHB2	P29323	p.Pro871Leu	rs763557854	missense variant	-	NC_000001.11:g.22910491C>T	NCI-TCGA
EPHB2	P29323	p.Phe873Ile	rs201327859	missense variant	-	NC_000001.11:g.22910496T>A	1000Genomes,ExAC
EPHB2	P29323	p.Gly874Ser	rs774876763	missense variant	-	NC_000001.11:g.22910499G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Gly874Ser	rs774876763	missense variant	-	NC_000001.11:g.22910499G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gln875Arg	rs143865228	missense variant	-	NC_000001.11:g.22910503A>G	ESP,TOPMed,gnomAD
EPHB2	P29323	p.Ile876Met	COSM4029525	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22910507T>G	NCI-TCGA Cosmic
EPHB2	P29323	p.Thr879Met	rs753505053	missense variant	-	NC_000001.11:g.22910515C>T	ExAC,gnomAD
EPHB2	P29323	p.Thr879Arg	rs753505053	missense variant	-	NC_000001.11:g.22910515C>G	ExAC,gnomAD
EPHB2	P29323	p.Thr879Ala	rs767807199	missense variant	-	NC_000001.11:g.22910514A>G	ExAC,gnomAD
EPHB2	P29323	p.Thr879Ala	rs767807199	missense variant	-	NC_000001.11:g.22910514A>G	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Lys882Asn	rs1369979172	missense variant	-	NC_000001.11:g.22910525G>T	TOPMed
EPHB2	P29323	p.Met883Val	rs372653137	missense variant	-	NC_000001.11:g.22910526A>G	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Met883Val	rs372653137	missense variant	-	NC_000001.11:g.22910526A>G	UniProt,dbSNP
EPHB2	P29323	p.Met883Val	VAR_032857	missense variant	-	NC_000001.11:g.22910526A>G	UniProt
EPHB2	P29323	p.Arg885His	rs746925117	missense variant	-	NC_000001.11:g.22910533G>A	ExAC,gnomAD
EPHB2	P29323	p.Arg885Cys	rs779879050	missense variant	-	NC_000001.11:g.22910532C>T	ExAC
EPHB2	P29323	p.Arg885Cys	rs779879050	missense variant	-	NC_000001.11:g.22910532C>T	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Asn886His	rs754833389	missense variant	-	NC_000001.11:g.22910535A>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asn886Ile	rs781119493	missense variant	-	NC_000001.11:g.22910536A>T	ExAC,gnomAD
EPHB2	P29323	p.Asn888Ser	rs1344212870	missense variant	-	NC_000001.11:g.22910542A>G	TOPMed
EPHB2	P29323	p.Ser889Gly	rs1338056435	missense variant	-	NC_000001.11:g.22910544A>G	gnomAD
EPHB2	P29323	p.Ser889Gly	rs1338056435	missense variant	-	NC_000001.11:g.22910544A>G	NCI-TCGA Cosmic
EPHB2	P29323	p.Ala892Asp	COSM1584182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22910554C>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Met893Leu	rs1436199887	missense variant	-	NC_000001.11:g.22910556A>T	TOPMed
EPHB2	P29323	p.Ala894Thr	COSM1340173	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22910559G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Leu896His	rs773386960	missense variant	-	NC_000001.11:g.22910566T>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Leu896Ile	rs770107666	missense variant	-	NC_000001.11:g.22910565C>A	ExAC,gnomAD
EPHB2	P29323	p.Ser897Phe	rs1482826393	missense variant	-	NC_000001.11:g.22910569C>T	gnomAD
EPHB2	P29323	p.Ser897Phe	rs1482826393	missense variant	-	NC_000001.11:g.22910569C>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Asn901Thr	rs761052115	missense variant	-	NC_000001.11:g.22912449A>C	ExAC,gnomAD
EPHB2	P29323	p.Pro903Leu	rs539189543	missense variant	-	NC_000001.11:g.22912455C>T	1000Genomes,ExAC,gnomAD
EPHB2	P29323	p.Asp906His	rs1431497843	missense variant	-	NC_000001.11:g.22912463G>C	TOPMed
EPHB2	P29323	p.Arg907Leu	rs751080829	missense variant	-	NC_000001.11:g.22912467G>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg907His	rs751080829	missense variant	-	NC_000001.11:g.22912467G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg907Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22912466C>A	NCI-TCGA
EPHB2	P29323	p.Arg907Cys	rs765871452	missense variant	-	NC_000001.11:g.22912466C>T	ExAC,gnomAD
EPHB2	P29323	p.Arg907Pro	rs751080829	missense variant	-	NC_000001.11:g.22912467G>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr908Ala	rs759593517	missense variant	-	NC_000001.11:g.22912469A>G	ExAC,TOPMed
EPHB2	P29323	p.Thr908Met	rs370710705	missense variant	-	NC_000001.11:g.22912470C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr908Lys	rs370710705	missense variant	-	NC_000001.11:g.22912470C>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ile909Met	VAR_032858	Missense	-	-	UniProt
EPHB2	P29323	p.Asp911Glu	rs1365133140	missense variant	-	NC_000001.11:g.22912480C>A	TOPMed
EPHB2	P29323	p.Asp911Gly	rs1294914761	missense variant	-	NC_000001.11:g.22912479A>G	TOPMed
EPHB2	P29323	p.Asp911Asn	rs1005666207	missense variant	-	NC_000001.11:g.22912478G>A	TOPMed,gnomAD
EPHB2	P29323	p.Thr913Ile	rs757499446	missense variant	-	NC_000001.11:g.22912485C>T	ExAC,gnomAD
EPHB2	P29323	p.Ser914Asn	rs1233119743	missense variant	-	NC_000001.11:g.22912488G>A	TOPMed
EPHB2	P29323	p.Ser914Arg	rs779006437	missense variant	-	NC_000001.11:g.22912489C>G	ExAC,gnomAD
EPHB2	P29323	p.Phe915Ser	rs1175991995	missense variant	-	NC_000001.11:g.22912491T>C	gnomAD
EPHB2	P29323	p.Thr917Lys	rs772092699	missense variant	-	NC_000001.11:g.22912497C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr917Ala	rs1386374791	missense variant	-	NC_000001.11:g.22912496A>G	gnomAD
EPHB2	P29323	p.Thr917Arg	rs772092699	missense variant	-	NC_000001.11:g.22912497C>G	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr917Met	rs772092699	missense variant	-	NC_000001.11:g.22912497C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val918Met	rs1471157491	missense variant	-	NC_000001.11:g.22912499G>A	gnomAD
EPHB2	P29323	p.Glu920Lys	rs777048986	missense variant	-	NC_000001.11:g.22912505G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Glu923Asp	rs1193254553	missense variant	-	NC_000001.11:g.22912516G>T	TOPMed
EPHB2	P29323	p.Glu923Gly	rs774094735	missense variant	-	NC_000001.11:g.22912515A>G	ExAC,gnomAD
EPHB2	P29323	p.Ala924Gly	rs759144921	missense variant	-	NC_000001.11:g.22912518C>G	ExAC,gnomAD
EPHB2	P29323	p.Ile925Phe	rs1248667450	missense variant	-	NC_000001.11:g.22912520A>T	TOPMed
EPHB2	P29323	p.Lys926Arg	rs767065635	missense variant	-	NC_000001.11:g.22912524A>G	ExAC,gnomAD
EPHB2	P29323	p.Met927Ile	rs1167223107	missense variant	-	NC_000001.11:g.22912528G>C	TOPMed
EPHB2	P29323	p.Met927Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22912526A>G	NCI-TCGA
EPHB2	P29323	p.Gly928Glu	rs1411916869	missense variant	-	NC_000001.11:g.22912530G>A	gnomAD
EPHB2	P29323	p.Gly928Arg	rs141672966	missense variant	-	NC_000001.11:g.22912529G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gln929Arg	rs760652225	missense variant	-	NC_000001.11:g.22912533A>G	ExAC,gnomAD
EPHB2	P29323	p.Lys931Thr	rs1406319873	missense variant	-	NC_000001.11:g.22912539A>C	TOPMed
EPHB2	P29323	p.Glu932Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22912542A>T	NCI-TCGA
EPHB2	P29323	p.Ser933Ile	rs763866286	missense variant	-	NC_000001.11:g.22912545G>T	ExAC,gnomAD
EPHB2	P29323	p.Ala935Thr	rs757472320	missense variant	-	NC_000001.11:g.22912550G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala935Thr	rs757472320	missense variant	-	NC_000001.11:g.22912550G>A	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Gly938Ser	rs750605092	missense variant	-	NC_000001.11:g.22912559G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp943Asn	rs758478096	missense variant	-	NC_000001.11:g.22912574G>A	ExAC,gnomAD
EPHB2	P29323	p.Asp943Gly	rs1372538748	missense variant	-	NC_000001.11:g.22912575A>G	gnomAD
EPHB2	P29323	p.Val944Ile	rs78707665	missense variant	-	NC_000001.11:g.22912577G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val945Met	rs781457963	missense variant	-	NC_000001.11:g.22912580G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Val945Leu	rs781457963	missense variant	-	NC_000001.11:g.22912580G>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser946Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22912584C>A	NCI-TCGA
EPHB2	P29323	p.Met948Val	rs1490727293	missense variant	-	NC_000001.11:g.22912589A>G	gnomAD
EPHB2	P29323	p.Glu951Ala	rs540876485	missense variant	-	NC_000001.11:g.22912599A>C	1000Genomes
EPHB2	P29323	p.Glu951Lys	rs748566440	missense variant	-	NC_000001.11:g.22912598G>A	ExAC,gnomAD
EPHB2	P29323	p.Ile953Phe	rs1269209610	missense variant	-	NC_000001.11:g.22913466A>T	gnomAD
EPHB2	P29323	p.Leu954Arg	rs1216691886	missense variant	-	NC_000001.11:g.22913470T>G	gnomAD
EPHB2	P29323	p.Leu954Ile	COSM1584180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22913469C>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Arg955Leu	rs200208409	missense variant	-	NC_000001.11:g.22913473G>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg955Gln	rs200208409	missense variant	-	NC_000001.11:g.22913473G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg955Trp	rs748534693	missense variant	-	NC_000001.11:g.22913472C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr959Ile	rs745586774	missense variant	-	NC_000001.11:g.22913485C>T	ExAC
EPHB2	P29323	p.Ala961Thr	COSM3485182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22913490G>A	NCI-TCGA Cosmic
EPHB2	P29323	p.Gly962Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22913494G>A	NCI-TCGA
EPHB2	P29323	p.Ile967Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22913508A>G	NCI-TCGA
EPHB2	P29323	p.Ile967SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.22913502A>-	NCI-TCGA
EPHB2	P29323	p.Asn969Tyr	COSM1646076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22913514A>T	NCI-TCGA Cosmic
EPHB2	P29323	p.Ser970Gly	rs771822788	missense variant	-	NC_000001.11:g.22913517A>G	ExAC,gnomAD
EPHB2	P29323	p.Ile971Thr	rs1192499328	missense variant	-	NC_000001.11:g.22913521T>C	gnomAD
EPHB2	P29323	p.Gln972His	rs369377482	missense variant	-	NC_000001.11:g.22913525G>C	ESP,ExAC,gnomAD
EPHB2	P29323	p.Val973Met	rs768013471	missense variant	-	NC_000001.11:g.22913526G>A	ExAC,gnomAD
EPHB2	P29323	p.Met974Val	rs776637249	missense variant	-	NC_000001.11:g.22913529A>G	ExAC,gnomAD
EPHB2	P29323	p.Arg975Trp	rs372681830	missense variant	-	NC_000001.11:g.22913532C>T	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg975Gly	rs372681830	missense variant	-	NC_000001.11:g.22913532C>G	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg975Gln	rs142146570	missense variant	-	NC_000001.11:g.22913533G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala976Glu	rs1030955500	missense variant	-	NC_000001.11:g.22913536C>A	TOPMed,gnomAD
EPHB2	P29323	p.Ala976Val	rs1030955500	missense variant	-	NC_000001.11:g.22913536C>T	TOPMed,gnomAD
EPHB2	P29323	p.Ala976Thr	rs763211060	missense variant	-	NC_000001.11:g.22913535G>A	ExAC,gnomAD
EPHB2	P29323	p.Met978Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22913541A>T	NCI-TCGA
EPHB2	P29323	p.Val984Leu	rs1345430676	missense variant	-	NC_000001.11:g.22913559G>C	gnomAD
EPHB2	P29323	p.Gly986Ala	rs777690887	missense variant	-	NC_000001.11:g.22913659G>C	ExAC,gnomAD
EPHB2	P29323	p.Gly986Ser	rs1180957843	missense variant	-	NC_000001.11:g.22913658G>A	gnomAD
EPHB2	P29323	p.Pro988Ser	rs749162914	missense variant	-	NC_000001.11:g.22913664C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ala990Thr	rs368971406	missense variant	-	NC_000001.11:g.22913670G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg991Lys	rs1384225977	missense variant	-	NC_000001.11:g.22913674G>A	TOPMed,gnomAD
EPHB2	P29323	p.Arg992Lys	rs746146203	missense variant	-	NC_000001.11:g.22913677G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg992Gly	rs1416162450	missense variant	-	NC_000001.11:g.22913676A>G	TOPMed
EPHB2	P29323	p.Arg992Thr	rs746146203	missense variant	-	NC_000001.11:g.22913677G>C	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Pro993Ser	rs1391364987	missense variant	-	NC_000001.11:g.22913679C>T	gnomAD
EPHB2	P29323	p.Arg994Trp	rs574015572	missense variant	-	NC_000001.11:g.22913682C>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg994Gln	rs775808448	missense variant	-	NC_000001.11:g.22913683G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Thr996Met	rs765589824	missense variant	-	NC_000001.11:g.22913689C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly997Arg	rs1314397273	missense variant	-	NC_000001.11:g.22913691G>A	gnomAD
EPHB2	P29323	p.Lys1000Met	rs1248436190	missense variant	-	NC_000001.11:g.22913701A>T	gnomAD
EPHB2	P29323	p.Arg1001Trp	rs762214115	missense variant	-	NC_000001.11:g.22913703C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg1001Gln	rs765701210	missense variant	-	NC_000001.11:g.22913704G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Cys1002Ser	rs750730184	missense variant	-	NC_000001.11:g.22913706T>A	ExAC,gnomAD
EPHB2	P29323	p.Cys1002Arg	rs750730184	missense variant	-	NC_000001.11:g.22913706T>C	ExAC,gnomAD
EPHB2	P29323	p.Pro1004Ser	rs1439420793	missense variant	-	NC_000001.11:g.22913712C>T	gnomAD
EPHB2	P29323	p.Arg1005Ter	rs375096051	stop gained	-	NC_000001.11:g.22913715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg1005Gln	rs755631924	missense variant	-	NC_000001.11:g.22913716G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp1006Gly	rs777249772	missense variant	-	NC_000001.11:g.22913719A>G	ExAC
EPHB2	P29323	p.Asp1006Asn	rs983936477	missense variant	-	NC_000001.11:g.22913718G>A	TOPMed,gnomAD
EPHB2	P29323	p.Val1007Ile	rs1185020740	missense variant	-	NC_000001.11:g.22913721G>A	gnomAD
EPHB2	P29323	p.Val1007Ala	rs749285634	missense variant	-	NC_000001.11:g.22913722T>C	ExAC,gnomAD
EPHB2	P29323	p.Val1007Asp	rs749285634	missense variant	-	NC_000001.11:g.22913722T>A	ExAC,gnomAD
EPHB2	P29323	p.Thr1008Ile	rs1461820125	missense variant	-	NC_000001.11:g.22913725C>T	gnomAD
EPHB2	P29323	p.Thr1011Lys	rs1399268795	missense variant	-	NC_000001.11:g.22913734C>A	gnomAD
EPHB2	P29323	p.Cys1012Arg	rs778821289	missense variant	-	NC_000001.11:g.22913736T>C	ExAC,gnomAD
EPHB2	P29323	p.Cys1012Tyr	rs745677573	missense variant	-	NC_000001.11:g.22913737G>A	ExAC,gnomAD
EPHB2	P29323	p.Cys1012Ter	rs1383571170	stop gained	-	NC_000001.11:g.22913738C>A	gnomAD
EPHB2	P29323	p.Asn1013His	rs775772189	missense variant	-	NC_000001.11:g.22913739A>C	gnomAD
EPHB2	P29323	p.Asn1013Asp	rs775772189	missense variant	-	NC_000001.11:g.22913739A>G	gnomAD
EPHB2	P29323	p.Asn1015Lys	rs771863033	missense variant	-	NC_000001.11:g.22913747C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp1016Glu	rs763473046	missense variant	-	NC_000001.11:g.22913750C>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Asp1016Asn	rs377206396	missense variant	-	NC_000001.11:g.22913748G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly1017Arg	rs188399389	missense variant	-	NC_000001.11:g.22913751G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Lys1019Ter	rs76826147	stop gained	-	NC_000001.11:g.22913757A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Lys1019Glu	rs76826147	missense variant	-	NC_000001.11:g.22913757A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Lys1019Ter	RCV000009061	nonsense	Prostate cancer/brain cancer susceptibility	NC_000001.11:g.22913757A>T	ClinVar
EPHB2	P29323	p.Lys1020Glu	rs763230111	missense variant	-	NC_000001.11:g.22913760A>G	ExAC,gnomAD
EPHB2	P29323	p.Lys1020ArgPheSerTerUnkUnk	rs563863657	frameshift	-	NC_000001.11:g.22913753A>-	NCI-TCGA,NCI-TCGA Cosmic
EPHB2	P29323	p.Gly1023Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22913769G>T	NCI-TCGA
EPHB2	P29323	p.Lys1025Arg	rs1184855993	missense variant	-	NC_000001.11:g.22913776A>G	gnomAD
EPHB2	P29323	p.Lys1025ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.22913771A>-	NCI-TCGA
EPHB2	P29323	p.Lys1025Asn	rs1259274309	missense variant	-	NC_000001.11:g.22913777G>C	gnomAD
EPHB2	P29323	p.Pro1029Thr	rs913336309	missense variant	-	NC_000001.11:g.22913787C>A	TOPMed
EPHB2	P29323	p.Gly1030Ala	rs1171718350	missense variant	-	NC_000001.11:g.22913791G>C	TOPMed
EPHB2	P29323	p.Gly1032Arg	rs1479764474	missense variant	-	NC_000001.11:g.22913796G>A	TOPMed,gnomAD
EPHB2	P29323	p.Arg1033Trp	rs563585033	missense variant	-	NC_000001.11:g.22913799C>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Arg1033Gln	rs369027672	missense variant	-	NC_000001.11:g.22913800G>A	ESP,ExAC,gnomAD
EPHB2	P29323	p.Arg1033GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.22913799_22913800insA	NCI-TCGA
EPHB2	P29323	p.Gln1036Ter	rs1287122775	stop gained	-	NC_000001.11:g.22913808C>T	gnomAD
EPHB2	P29323	p.Gln1036His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22913810A>T	NCI-TCGA
EPHB2	P29323	p.Ile1038Leu	rs1024809151	missense variant	-	NC_000001.11:g.22913814A>C	TOPMed
EPHB2	P29323	p.His1045Tyr	rs756746557	missense variant	-	NC_000001.11:g.22913835C>T	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Glu1047Lys	rs867465635	missense variant	-	NC_000001.11:g.22913841G>A	gnomAD
EPHB2	P29323	p.Ser1048Thr	rs1324139542	missense variant	-	NC_000001.11:g.22913845G>C	gnomAD
EPHB2	P29323	p.Ser1048Arg	rs549094331	missense variant	-	NC_000001.11:g.22913846C>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Ser1048Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22913845G>T	NCI-TCGA
EPHB2	P29323	p.Asn1049His	rs180810246	missense variant	-	NC_000001.11:g.22913847A>C	1000Genomes,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Cys1051Trp	rs747302640	missense variant	-	NC_000001.11:g.22913855T>G	ExAC,gnomAD
EPHB2	P29323	p.Cys1051Tyr	rs372635662	missense variant	-	NC_000001.11:g.22913854G>A	ESP,ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Cys1053Phe	rs1489967443	missense variant	-	NC_000001.11:g.22913860G>T	gnomAD
EPHB2	P29323	p.Cys1053TrpPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22913860_22913861insGTGACGT	NCI-TCGA
EPHB2	P29323	p.Cys1053Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22913860G>A	NCI-TCGA
EPHB2	P29323	p.Gly1054Arg	rs781515547	missense variant	-	NC_000001.11:g.22913862G>A	ExAC,TOPMed,gnomAD
EPHB2	P29323	p.Gly1055Glu	rs918936702	missense variant	-	NC_000001.11:g.22913866G>A	gnomAD
EPHB2	P29323	p.Ter1056Tyr	rs895436784	stop lost	-	NC_000001.11:g.22913870A>T	TOPMed
GSTT1	P30711	p.Gly2Cys	rs1216627902	missense variant	-	CHR_HSCHR22_1_CTG7:g.24042041C>A	gnomAD
GSTT1	P30711	p.Leu3Val	rs777890225	missense variant	-	CHR_HSCHR22_1_CTG7:g.24042038G>C	ExAC,gnomAD
GSTT1	P30711	p.Glu4Lys	rs1439706306	missense variant	-	CHR_HSCHR22_1_CTG7:g.24042035C>T	gnomAD
GSTT1	P30711	p.Leu10Pro	rs748255226	missense variant	-	CHR_HSCHR22_1_CTG7:g.24042016A>G	ExAC,gnomAD
GSTT1	P30711	p.Gln12Ter	rs1460430655	stop gained	-	CHR_HSCHR22_1_CTG7:g.24042011G>A	gnomAD
GSTT1	P30711	p.Cys14Gly	rs780072339	missense variant	-	CHR_HSCHR22_1_CTG7:g.24042005A>C	ExAC,gnomAD
GSTT1	P30711	p.Ile19Val	rs750233797	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041990T>C	ExAC,gnomAD
GSTT1	P30711	p.Ile19Ser	rs1161555784	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041989A>C	gnomAD
GSTT1	P30711	p.Ala21Thr	rs2266635	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041984C>T	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.Asn24Ser	rs1173289463	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041974T>C	gnomAD
GSTT1	P30711	p.Arg31His	rs1175516156	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041953C>T	gnomAD
GSTT1	P30711	p.Ile32Val	rs1480595059	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041951T>C	gnomAD
GSTT1	P30711	p.Leu35Met	rs1207230959	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041942G>T	gnomAD
GSTT1	P30711	p.Ile36Leu	rs763673553	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041939T>G	ExAC,gnomAD
GSTT1	P30711	p.Ile36Met	rs1233179552	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041937A>C	gnomAD
GSTT1	P30711	p.Gly38Arg	rs762389722	missense variant	-	CHR_HSCHR22_1_CTG7:g.24041933C>G	ExAC,gnomAD
GSTT1	P30711	p.His40Tyr	rs1195148457	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039595G>A	gnomAD
GSTT1	P30711	p.Asp43Asn	rs199521920	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039586C>T	1000Genomes,ExAC,TOPMed,gnomAD
GSTT1	P30711	p.Asp43Tyr	rs199521920	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039586C>A	1000Genomes,ExAC,TOPMed,gnomAD
GSTT1	P30711	p.Ala46Gly	rs758023485	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039576G>C	ExAC,gnomAD
GSTT1	P30711	p.Pro50Thr	rs747759286	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039565G>T	ExAC
GSTT1	P30711	p.Leu51Ile	rs778558825	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039562G>T	ExAC
GSTT1	P30711	p.Lys52Asn	rs1347375526	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039557C>G	gnomAD
GSTT1	P30711	p.Val54Met	rs1304259047	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039553C>T	gnomAD
GSTT1	P30711	p.Pro55Thr	rs1334043459	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039550G>T	gnomAD
GSTT1	P30711	p.Pro55Leu	rs1328859571	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039549G>A	gnomAD
GSTT1	P30711	p.Leu57Phe	rs754429237	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039542C>G	ExAC,gnomAD
GSTT1	P30711	p.Leu57Phe	rs754429237	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039542C>A	ExAC,gnomAD
GSTT1	P30711	p.Gly60Glu	rs370330123	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039534C>T	ExAC,gnomAD
GSTT1	P30711	p.Gly60Arg	rs766908708	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039535C>T	ExAC,gnomAD
GSTT1	P30711	p.Asp61Asn	rs1394034450	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039532C>T	gnomAD
GSTT1	P30711	p.Thr65Met	rs587740336	missense variant	-	CHR_HSCHR22_1_CTG7:g.24039519G>A	1000Genomes,ExAC,TOPMed,gnomAD
GSTT1	P30711	p.Val68Ala	rs371582086	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037322A>G	ExAC,gnomAD
GSTT1	P30711	p.Leu74Met	rs1233172648	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037305G>T	gnomAD
GSTT1	P30711	p.Thr75Met	rs756616838	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037301G>A	ExAC,gnomAD
GSTT1	P30711	p.Arg76Cys	rs56023617	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037299G>A	ExAC,gnomAD
GSTT1	P30711	p.Arg76Ser	rs56023617	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037299G>T	ExAC,gnomAD
GSTT1	P30711	p.Arg76His	rs1317034472	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037298C>T	gnomAD
GSTT1	P30711	p.Tyr78Cys	rs1312329976	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037292T>C	gnomAD
GSTT1	P30711	p.Lys79Arg	rs1457363932	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037289T>C	gnomAD
GSTT1	P30711	p.Val80Phe	rs751974027	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037287C>A	ExAC,gnomAD
GSTT1	P30711	p.Val80Ile	rs751974027	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037287C>T	ExAC,gnomAD
GSTT1	P30711	p.Trp84Ter	rs1162755869	stop gained	-	CHR_HSCHR22_1_CTG7:g.24037273C>T	gnomAD
GSTT1	P30711	p.Leu89Val	rs1183341374	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037260G>C	gnomAD
GSTT1	P30711	p.Arg92Cys	rs765273007	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037251G>A	ExAC,gnomAD
GSTT1	P30711	p.Arg92His	rs759683869	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037250C>T	ExAC
GSTT1	P30711	p.Ala93Thr	rs1194157389	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037248C>T	gnomAD
GSTT1	P30711	p.Arg94His	rs367612218	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037244C>T	ExAC,gnomAD
GSTT1	P30711	p.Arg94Cys	rs376939579	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037245G>A	ExAC,TOPMed,gnomAD
GSTT1	P30711	p.Trp101Arg	rs141759372	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037224A>G	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.His103Asn	rs774192152	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037218G>T	ExAC
GSTT1	P30711	p.His103Arg	rs768335896	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037217T>C	ExAC
GSTT1	P30711	p.Thr104Lys	rs745381166	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037214G>T	ExAC,gnomAD
GSTT1	P30711	p.Thr104Pro	rs11550605	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037215T>G	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.Thr104Ala	rs11550605	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037215T>C	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.Thr104Met	rs745381166	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037214G>A	ExAC,gnomAD
GSTT1	P30711	p.Leu106Pro	rs1269298778	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037208A>G	gnomAD
GSTT1	P30711	p.Arg107Trp	rs373763515	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037206G>A	ExAC,gnomAD
GSTT1	P30711	p.Arg107Gln	rs201658659	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037205C>T	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.Arg112Gln	rs1350334124	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037190C>T	gnomAD
GSTT1	P30711	p.Arg112Trp	rs150601402	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037191G>A	ExAC,gnomAD
GSTT1	P30711	p.Lys117Asn	rs1256424411	missense variant	-	CHR_HSCHR22_1_CTG7:g.24037174C>G	gnomAD
GSTT1	P30711	p.Met119Thr	rs1433883691	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034807A>G	gnomAD
GSTT1	P30711	p.Val122Leu	rs780904841	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034799C>G	ExAC
GSTT1	P30711	p.Phe123Ser	rs771540638	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034795A>G	ExAC,gnomAD
GSTT1	P30711	p.Leu124Val	rs1353763345	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034793G>C	gnomAD
GSTT1	P30711	p.Gly125Ser	rs1176044350	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034790C>T	gnomAD
GSTT1	P30711	p.Glu126Lys	rs747558254	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034787C>T	ExAC,gnomAD
GSTT1	P30711	p.Pro127Arg	rs1233821564	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034783G>C	gnomAD
GSTT1	P30711	p.Ser129Phe	rs1207690468	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034777G>A	gnomAD
GSTT1	P30711	p.Gln131His	rs1483843490	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034770C>G	gnomAD
GSTT1	P30711	p.Ala134Thr	rs1277804957	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034763C>T	gnomAD
GSTT1	P30711	p.Ala135Thr	rs1209663237	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034760C>T	gnomAD
GSTT1	P30711	p.Asp141Gly	rs587657751	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034741T>C	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.Val142Met	rs1411486207	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034739C>T	gnomAD
GSTT1	P30711	p.Gln145Ter	rs1312573641	stop gained	-	CHR_HSCHR22_1_CTG7:g.24034730G>A	gnomAD
GSTT1	P30711	p.Leu147Arg	rs1466733729	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034723A>C	gnomAD
GSTT1	P30711	p.Glu148Lys	rs1156927929	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034721C>T	gnomAD
GSTT1	P30711	p.Ala156Thr	rs755288472	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034697C>T	ExAC,gnomAD
GSTT1	P30711	p.Leu158Phe	rs369014577	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034691G>A	ExAC,gnomAD
GSTT1	P30711	p.His162Leu	rs139881998	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034678T>A	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.Ile163Val	rs756221246	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034676T>C	ExAC,TOPMed,gnomAD
GSTT1	P30711	p.Leu165Ser	rs587699030	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034669A>G	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.Val169Ile	rs2266637	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034658C>T	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.Glu173Lys	rs2234953	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034646C>T	-
GSTT1	P30711	p.Glu173Lys	rs2234953	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034646C>T	UniProt,dbSNP
GSTT1	P30711	p.Glu173Lys	VAR_014504	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034646C>T	UniProt
GSTT1	P30711	p.Gly181Ala	rs1166619589	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034417C>G	gnomAD
GSTT1	P30711	p.Glu186Lys	rs201764803	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034403C>T	ExAC,gnomAD
GSTT1	P30711	p.Arg188Gln	rs1293750813	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034396C>T	gnomAD
GSTT1	P30711	p.Arg188Ter	rs144686326	stop gained	-	CHR_HSCHR22_1_CTG7:g.24034397G>A	1000Genomes,ExAC,TOPMed,gnomAD
GSTT1	P30711	p.Trp194Ter	rs758416213	stop gained	-	CHR_HSCHR22_1_CTG7:g.24034378C>T	ExAC,gnomAD
GSTT1	P30711	p.Arg195Trp	rs752856562	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034376G>A	ExAC,gnomAD
GSTT1	P30711	p.Arg195Gln	rs765120099	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034375C>T	ExAC,gnomAD
GSTT1	P30711	p.Arg197Cys	rs955662177	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034370G>A	TOPMed
GSTT1	P30711	p.Arg197His	rs112867476	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034369C>T	ExAC,gnomAD
GSTT1	P30711	p.Val198Met	rs766134636	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034367C>T	ExAC,gnomAD
GSTT1	P30711	p.Val202Met	rs760258346	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034355C>T	ExAC,gnomAD
GSTT1	P30711	p.Phe207Ser	rs772837721	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034339A>G	ExAC,gnomAD
GSTT1	P30711	p.Glu212Lys	rs772438354	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034325C>T	ExAC,gnomAD
GSTT1	P30711	p.Val213Ile	rs1467099794	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034322C>T	gnomAD
GSTT1	P30711	p.Lys216Asn	rs748732133	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034311C>A	ExAC,gnomAD
GSTT1	P30711	p.Pro222Ala	rs774754785	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034295G>C	ExAC,gnomAD
GSTT1	P30711	p.Pro222Leu	rs768963258	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034294G>A	ExAC,gnomAD
GSTT1	P30711	p.Asp224Val	rs749671214	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034288T>A	ExAC,gnomAD
GSTT1	P30711	p.Pro225Ser	rs370201073	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034286G>A	ExAC,TOPMed,gnomAD
GSTT1	P30711	p.Pro225Thr	rs370201073	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034286G>T	ExAC,TOPMed,gnomAD
GSTT1	P30711	p.Ile227Val	rs765356551	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034280T>C	ExAC,gnomAD
GSTT1	P30711	p.Arg240Trp	rs185499198	missense variant	-	CHR_HSCHR22_1_CTG7:g.24034241G>A	1000Genomes,ExAC,gnomAD
GSTT1	P30711	p.Ter241Trp	rs143079560	stop lost	-	CHR_HSCHR22_1_CTG7:g.24034236T>C	ExAC,gnomAD
GCH1	P30793	p.Met1Leu	RCV000536548	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902663T>A	ClinVar
GCH1	P30793	p.Met1Ile	RCV000009859	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902661C>G	ClinVar
GCH1	P30793	p.Gly4Arg	rs764013857	missense variant	-	NC_000014.9:g.54902654C>G	ExAC,gnomAD
GCH1	P30793	p.Pro5Ter	RCV000518820	frameshift	-	NC_000014.9:g.54902647_54902653del	ClinVar
GCH1	P30793	p.Val6Glu	rs1206396500	missense variant	-	NC_000014.9:g.54902647A>T	gnomAD
GCH1	P30793	p.Arg7Gly	rs1167936240	missense variant	-	NC_000014.9:g.54902645G>C	gnomAD
GCH1	P30793	p.Arg7Pro	rs1170513883	missense variant	-	NC_000014.9:g.54902644C>G	TOPMed
GCH1	P30793	p.Arg7Trp	rs1167936240	missense variant	-	NC_000014.9:g.54902645G>A	gnomAD
GCH1	P30793	p.Ala8Pro	rs529381971	missense variant	-	NC_000014.9:g.54902642C>G	1000Genomes,TOPMed,gnomAD
GCH1	P30793	p.Ala8Thr	rs529381971	missense variant	-	NC_000014.9:g.54902642C>T	1000Genomes,TOPMed,gnomAD
GCH1	P30793	p.Ala8Ser	rs529381971	missense variant	-	NC_000014.9:g.54902642C>A	1000Genomes,TOPMed,gnomAD
GCH1	P30793	p.Pro9Leu	rs1262075886	missense variant	-	NC_000014.9:g.54902638G>A	gnomAD
GCH1	P30793	p.Ala10Ser	rs946737110	missense variant	-	NC_000014.9:g.54902636C>A	TOPMed
GCH1	P30793	p.Glu11Ala	rs1272621459	missense variant	-	NC_000014.9:g.54902632T>G	gnomAD
GCH1	P30793	p.Arg14Trp	rs1487411316	missense variant	-	NC_000014.9:g.54902624G>A	TOPMed,gnomAD
GCH1	P30793	p.Gly15Ser	rs1214036983	missense variant	-	NC_000014.9:g.54902621C>T	TOPMed,gnomAD
GCH1	P30793	p.Gly15Asp	VAR_002632	Missense	-	-	UniProt
GCH1	P30793	p.Cys18Ser	rs1299121897	missense variant	-	NC_000014.9:g.54902612A>T	TOPMed
GCH1	P30793	p.Ser19Ile	rs1457270763	missense variant	-	NC_000014.9:g.54902608C>A	gnomAD
GCH1	P30793	p.Gly21Trp	rs1342263570	missense variant	-	NC_000014.9:g.54902603C>A	TOPMed
GCH1	P30793	p.Phe22Val	rs1220614834	missense variant	-	NC_000014.9:g.54902600A>C	gnomAD
GCH1	P30793	p.Pro23Leu	rs41298432	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902596G>A	UniProt,dbSNP
GCH1	P30793	p.Pro23Leu	VAR_002633	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902596G>A	UniProt
GCH1	P30793	p.Pro23Ala	rs1308135163	missense variant	-	NC_000014.9:g.54902597G>C	gnomAD
GCH1	P30793	p.Pro23Leu	rs41298432	missense variant	-	NC_000014.9:g.54902596G>A	1000Genomes,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro23Leu	RCV000535892	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902596G>A	ClinVar
GCH1	P30793	p.Glu24Ter	rs1444127928	stop gained	-	NC_000014.9:g.54902594C>A	TOPMed
GCH1	P30793	p.Pro28Ser	rs759709001	missense variant	-	NC_000014.9:g.54902582G>A	ExAC,gnomAD
GCH1	P30793	p.Pro28Leu	rs774568081	missense variant	-	NC_000014.9:g.54902581G>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro30Arg	rs1477733062	missense variant	-	NC_000014.9:g.54902575G>C	TOPMed
GCH1	P30793	p.Pro30Ser	rs944665606	missense variant	-	NC_000014.9:g.54902576G>A	TOPMed,gnomAD
GCH1	P30793	p.Gly31Val	rs1463121244	missense variant	-	NC_000014.9:g.54902572C>A	TOPMed,gnomAD
GCH1	P30793	p.Gly31Glu	rs1463121244	missense variant	-	NC_000014.9:g.54902572C>T	TOPMed,gnomAD
GCH1	P30793	p.Pro32Ser	rs1456164846	missense variant	-	NC_000014.9:g.54902570G>A	TOPMed
GCH1	P30793	p.Ser33Cys	rs1373130817	missense variant	-	NC_000014.9:g.54902567T>A	gnomAD
GCH1	P30793	p.Ser33Arg	rs1320254777	missense variant	-	NC_000014.9:g.54902565G>C	TOPMed
GCH1	P30793	p.Ala36Glu	rs1431116951	missense variant	-	NC_000014.9:g.54902557G>T	gnomAD
GCH1	P30793	p.Ala36Val	rs1431116951	missense variant	-	NC_000014.9:g.54902557G>A	gnomAD
GCH1	P30793	p.Ala36Ser	rs1030068813	missense variant	-	NC_000014.9:g.54902558C>A	gnomAD
GCH1	P30793	p.Glu37Gly	rs1281740862	missense variant	-	NC_000014.9:g.54902554T>C	gnomAD
GCH1	P30793	p.Glu37Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54902553C>A	NCI-TCGA
GCH1	P30793	p.Pro39Ser	rs770932357	missense variant	-	NC_000014.9:g.54902549G>A	ExAC,gnomAD
GCH1	P30793	p.Pro40Arg	RCV000556657	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902545G>C	ClinVar
GCH1	P30793	p.Pro40Arg	rs995999325	missense variant	-	NC_000014.9:g.54902545G>C	gnomAD
GCH1	P30793	p.Pro42Leu	rs1481021061	missense variant	-	NC_000014.9:g.54902539G>A	gnomAD
GCH1	P30793	p.Pro42Ser	rs1197458063	missense variant	-	NC_000014.9:g.54902540G>A	gnomAD
GCH1	P30793	p.Glu43Ter	rs1255523585	stop gained	-	NC_000014.9:g.54902537C>A	gnomAD
GCH1	P30793	p.Glu43Ter	RCV000678472	frameshift	Dystonia	NC_000014.9:g.54902540dup	ClinVar
GCH1	P30793	p.Ala44Thr	rs1208054607	missense variant	-	NC_000014.9:g.54902534C>T	gnomAD
GCH1	P30793	p.Ser46Gly	rs773925613	missense variant	-	NC_000014.9:g.54902528T>C	ExAC,gnomAD
GCH1	P30793	p.Gln48Ter	RCV000009871	nonsense	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902522G>A	ClinVar
GCH1	P30793	p.Gln48Lys	rs104894444	missense variant	-	NC_000014.9:g.54902522G>T	TOPMed
GCH1	P30793	p.Gln48Ter	rs104894444	stop gained	-	NC_000014.9:g.54902522G>A	TOPMed
GCH1	P30793	p.Pro49Leu	rs1330315044	missense variant	-	NC_000014.9:g.54902518G>A	gnomAD
GCH1	P30793	p.Pro49Ala	rs573085618	missense variant	-	NC_000014.9:g.54902519G>C	1000Genomes,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro49Ser	rs573085618	missense variant	-	NC_000014.9:g.54902519G>A	1000Genomes,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Asp51Tyr	rs755299126	missense variant	-	NC_000014.9:g.54902513C>A	ExAC,gnomAD
GCH1	P30793	p.Asp51Glu	rs745516526	missense variant	-	NC_000014.9:g.54902511G>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Asp51Glu	RCV000424438	missense variant	-	NC_000014.9:g.54902511G>T	ClinVar
GCH1	P30793	p.Gly52Cys	rs375788167	missense variant	-	NC_000014.9:g.54902510C>A	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Gly52Ser	rs375788167	missense variant	-	NC_000014.9:g.54902510C>T	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Trp53Ter	RCV000334247	nonsense	-	NC_000014.9:g.54902505C>T	ClinVar
GCH1	P30793	p.Trp53Ter	rs886041708	stop gained	-	NC_000014.9:g.54902505C>T	-
GCH1	P30793	p.Trp53Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54902505C>G	NCI-TCGA
GCH1	P30793	p.Gly55Asp	rs1464045587	missense variant	-	NC_000014.9:g.54902500C>T	gnomAD
GCH1	P30793	p.Glu56Gly	rs1376965947	missense variant	-	NC_000014.9:g.54902497T>C	gnomAD
GCH1	P30793	p.Glu56Lys	COSM433146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54902498C>T	NCI-TCGA Cosmic
GCH1	P30793	p.Arg57Gln	rs756782285	missense variant	-	NC_000014.9:g.54902494C>T	ExAC,gnomAD
GCH1	P30793	p.Pro58Leu	rs1438904628	missense variant	-	NC_000014.9:g.54902491G>A	gnomAD
GCH1	P30793	p.Arg59Gly	rs753312849	missense variant	-	NC_000014.9:g.54902489G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg59Cys	rs753312849	missense variant	-	NC_000014.9:g.54902489G>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ser60Thr	rs756067922	missense variant	-	NC_000014.9:g.54902485C>G	ExAC,gnomAD
GCH1	P30793	p.Glu62Gly	rs1162192311	missense variant	-	NC_000014.9:g.54902479T>C	gnomAD
GCH1	P30793	p.Glu62Asp	rs752590798	missense variant	-	NC_000014.9:g.54902478C>A	ExAC,gnomAD
GCH1	P30793	p.Asp63Asn	rs1404198001	missense variant	-	NC_000014.9:g.54902477C>T	gnomAD
GCH1	P30793	p.Asp63Ter	RCV000634834	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902467_54902478delinsT	ClinVar
GCH1	P30793	p.Glu65Gln	rs1281386674	missense variant	-	NC_000014.9:g.54902471C>G	TOPMed,gnomAD
GCH1	P30793	p.Leu66Pro	rs1042390728	missense variant	-	NC_000014.9:g.54902467A>G	gnomAD
GCH1	P30793	p.Asn67Thr	rs1240134623	missense variant	-	NC_000014.9:g.54902464T>G	gnomAD
GCH1	P30793	p.Pro69Arg	rs56127440	missense variant	-	NC_000014.9:g.54902458G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro69Leu	rs56127440	missense variant	-	NC_000014.9:g.54902458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro69Leu	RCV000687434	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902458G>A	ClinVar
GCH1	P30793	p.Asn70Tyr	rs1356789844	missense variant	-	NC_000014.9:g.54902456T>A	gnomAD
GCH1	P30793	p.Asn70Lys	rs763168809	missense variant	-	NC_000014.9:g.54902454G>T	ExAC,gnomAD
GCH1	P30793	p.Asn70Lys	rs763168809	missense variant	-	NC_000014.9:g.54902454G>C	ExAC,gnomAD
GCH1	P30793	p.Leu71Gln	VAR_016888	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ala72Pro	rs1160103349	missense variant	-	NC_000014.9:g.54902450C>G	gnomAD
GCH1	P30793	p.Ala74Ter	RCV000694754	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902441_54902444del	ClinVar
GCH1	P30793	p.Ala74Val	VAR_016889	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Tyr75Cys	VAR_072733	Missense	-	-	UniProt
GCH1	P30793	p.Ser77Cys	rs748666093	missense variant	-	NC_000014.9:g.54902434G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ile78Asn	rs777135030	missense variant	-	NC_000014.9:g.54902431A>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ile78Met	rs747393714	missense variant	-	NC_000014.9:g.54902430G>C	ExAC,gnomAD
GCH1	P30793	p.Leu79Pro	VAR_002634	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ser80Arg	rs748890014	missense variant	-	NC_000014.9:g.54902424G>T	ExAC,gnomAD
GCH1	P30793	p.Ser80Asn	rs770547722	missense variant	-	NC_000014.9:g.54902425C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Gly83Ala	VAR_016890	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Glu84Gln	rs755556239	missense variant	-	NC_000014.9:g.54902414C>G	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro86Arg	rs1555362836	missense variant	-	NC_000014.9:g.54902407G>C	-
GCH1	P30793	p.Pro86Thr	rs781177989	missense variant	-	NC_000014.9:g.54902408G>T	ExAC,gnomAD
GCH1	P30793	p.Pro86Arg	RCV000634831	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902407G>C	ClinVar
GCH1	P30793	p.Arg88Trp	RCV000009853	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902402G>A	ClinVar
GCH1	P30793	p.Arg88Gly	rs104894433	missense variant	-	NC_000014.9:g.54902402G>C	ExAC,gnomAD
GCH1	P30793	p.Arg88Trp	rs104894433	missense variant	-	NC_000014.9:g.54902402G>A	ExAC,gnomAD
GCH1	P30793	p.Arg88Trp	rs104894433	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902402G>A	UniProt,dbSNP
GCH1	P30793	p.Arg88Trp	VAR_002636	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902402G>A	UniProt
GCH1	P30793	p.Arg88_Gln89del	VAR_016891	inframe_deletion	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg88Pro	VAR_002635	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gln89Lys	rs1293402606	missense variant	-	NC_000014.9:g.54902399G>T	gnomAD
GCH1	P30793	p.Gly90Val	VAR_016892	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Leu92Ile	rs763294577	missense variant	-	NC_000014.9:g.54902390G>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Leu92Ile	RCV000626091	missense variant	6-pyruvoyl-tetrahydropterin synthase deficiency (HPABH4A)	NC_000014.9:g.54902390G>T	ClinVar
GCH1	P30793	p.Lys93Arg	rs960988987	missense variant	-	NC_000014.9:g.54902386T>C	TOPMed,gnomAD
GCH1	P30793	p.Thr94Ter	RCV000551452	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902387dup	ClinVar
GCH1	P30793	p.Thr94Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54902384T>G	NCI-TCGA
GCH1	P30793	p.Thr94Lys	RCV000689484	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902383G>T	ClinVar
GCH1	P30793	p.Pro95Leu	rs886042892	missense variant	-	NC_000014.9:g.54902380G>A	-
GCH1	P30793	p.Pro95Leu	RCV000286942	missense variant	-	NC_000014.9:g.54902380G>A	ClinVar
GCH1	P30793	p.Trp96Ter	rs1482120639	stop gained	-	NC_000014.9:g.54902377C>T	TOPMed
GCH1	P30793	p.Arg97Thr	rs1181621238	missense variant	-	NC_000014.9:g.54902374C>G	TOPMed
GCH1	P30793	p.Ala98Val	VAR_072734	Missense	-	-	UniProt
GCH1	P30793	p.Ala99Ser	RCV000711752	missense variant	-	NC_000014.9:g.54902369C>A	ClinVar
GCH1	P30793	p.Ser100Leu	rs527416949	missense variant	-	NC_000014.9:g.54902365G>A	TOPMed
GCH1	P30793	p.Ala101Thr	RCV000481039	missense variant	-	NC_000014.9:g.54902363C>T	ClinVar
GCH1	P30793	p.Ala101Thr	rs1064796560	missense variant	-	NC_000014.9:g.54902363C>T	TOPMed
GCH1	P30793	p.Ala101Val	COSM4051338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54902362G>A	NCI-TCGA Cosmic
GCH1	P30793	p.Met102Lys	VAR_002637	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Met102Arg	VAR_016893	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Phe104Leu	rs1418414015	missense variant	-	NC_000014.9:g.54902354A>G	gnomAD
GCH1	P30793	p.Thr106Ile	VAR_054112	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gly108Asp	RCV000009864	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54902341C>T	ClinVar
GCH1	P30793	p.Gly108Asp	rs104894435	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54902341C>T	UniProt,dbSNP
GCH1	P30793	p.Gly108Asp	VAR_016894	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54902341C>T	UniProt
GCH1	P30793	p.Gly108Asp	RCV000634833	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902341C>T	ClinVar
GCH1	P30793	p.Gln110Glu	RCV000513209	missense variant	-	NC_000014.9:g.54902336G>C	ClinVar
GCH1	P30793	p.Gln110Leu	rs777349671	missense variant	-	NC_000014.9:g.54902335T>A	ExAC,gnomAD
GCH1	P30793	p.Gln110Glu	rs748944982	missense variant	-	NC_000014.9:g.54902336G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Thr112Ala	rs199990434	missense variant	-	NC_000014.9:g.54902330T>C	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Thr112Ser	rs747691325	missense variant	-	NC_000014.9:g.54902329G>C	ExAC,gnomAD
GCH1	P30793	p.Ile113Val	rs535517364	missense variant	-	NC_000014.9:g.54902327T>C	1000Genomes,gnomAD
GCH1	P30793	p.Asp115Asn	rs1393095176	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902321C>T	UniProt,dbSNP
GCH1	P30793	p.Asp115Asn	VAR_016895	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902321C>T	UniProt
GCH1	P30793	p.Asp115Asn	rs1393095176	missense variant	-	NC_000014.9:g.54902321C>T	TOPMed
GCH1	P30793	p.Asp115Asn	RCV000624730	missense variant	Inborn genetic diseases	NC_000014.9:g.54902321C>T	ClinVar
GCH1	P30793	p.Asn118Asp	rs1267072369	missense variant	-	NC_000014.9:g.54865428T>C	TOPMed
GCH1	P30793	p.Asp119Tyr	rs1221794990	missense variant	-	NC_000014.9:g.54865425C>A	gnomAD
GCH1	P30793	p.Asp119Asn	COSM1607752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54865425C>T	NCI-TCGA Cosmic
GCH1	P30793	p.Ile121Val	rs1447471890	missense variant	-	NC_000014.9:g.54865419T>C	gnomAD
GCH1	P30793	p.Glu124Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.54865410C>A	NCI-TCGA
GCH1	P30793	p.His126Arg	rs1427825866	missense variant	-	NC_000014.9:g.54865403T>C	TOPMed
GCH1	P30793	p.Glu128Asp	COSM956318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54865396C>A	NCI-TCGA Cosmic
GCH1	P30793	p.Val132Ala	RCV000497630	missense variant	-	NC_000014.9:g.54865385A>G	ClinVar
GCH1	P30793	p.Val132Met	rs1359856164	missense variant	-	NC_000014.9:g.54865386C>T	gnomAD
GCH1	P30793	p.Val132Ala	rs1555360034	missense variant	-	NC_000014.9:g.54865385A>G	-
GCH1	P30793	p.Asp134Val	RCV000009854	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865379T>A	ClinVar
GCH1	P30793	p.Asp134Asn	rs1353623780	missense variant	-	NC_000014.9:g.54865380C>T	gnomAD
GCH1	P30793	p.Asp134Val	rs104894437	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865379T>A	UniProt,dbSNP
GCH1	P30793	p.Asp134Val	VAR_002638	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865379T>A	UniProt
GCH1	P30793	p.Asp134Val	rs104894437	missense variant	-	NC_000014.9:g.54865379T>A	-
GCH1	P30793	p.Asp134Asn	RCV000761877	missense variant	-	NC_000014.9:g.54865380C>T	ClinVar
GCH1	P30793	p.Ile135Lys	RCV000009868	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865376A>T	ClinVar
GCH1	P30793	p.Ile135Lys	rs104894441	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865376A>T	UniProt,dbSNP
GCH1	P30793	p.Ile135Lys	VAR_016896	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865376A>T	UniProt
GCH1	P30793	p.Ile135Lys	rs104894441	missense variant	-	NC_000014.9:g.54865376A>T	-
GCH1	P30793	p.Ile135Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54865376A>G	NCI-TCGA
GCH1	P30793	p.Ile135Thr	VAR_072735	Missense	-	-	UniProt
GCH1	P30793	p.Met140Ile	rs1360081603	missense variant	-	NC_000014.9:g.54865360C>T	TOPMed,gnomAD
GCH1	P30793	p.Cys141Arg	VAR_016897	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Cys141Trp	VAR_002639	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.His143Arg	rs764265181	missense variant	-	NC_000014.9:g.54865352T>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.His144Pro	rs104894440	missense variant	-	NC_000014.9:g.54865349T>G	-
GCH1	P30793	p.His144Pro	rs104894440	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865349T>G	UniProt,dbSNP
GCH1	P30793	p.His144Pro	VAR_002640	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865349T>G	UniProt
GCH1	P30793	p.His144Pro	RCV000009860	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865349T>G	ClinVar
GCH1	P30793	p.Val146Leu	rs767979398	missense variant	-	NC_000014.9:g.54865344C>G	ExAC,gnomAD
GCH1	P30793	p.Val146Ile	rs767979398	missense variant	-	NC_000014.9:g.54865344C>T	ExAC,gnomAD
GCH1	P30793	p.Val146Phe	rs767979398	missense variant	-	NC_000014.9:g.54865344C>A	ExAC,gnomAD
GCH1	P30793	p.Val149Ala	rs759958696	missense variant	-	NC_000014.9:g.54865334A>G	ExAC,gnomAD
GCH1	P30793	p.Val152Ile	rs756256944	missense variant	-	NC_000014.9:g.54859736C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.His153Pro	VAR_002641	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ile154Val	rs373220294	missense variant	-	NC_000014.9:g.54859730T>C	gnomAD
GCH1	P30793	p.Ile154Met	RCV000693837	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54859728A>C	ClinVar
GCH1	P30793	p.Ile154Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54859729A>C	NCI-TCGA
GCH1	P30793	p.Leu157Arg	NCI-TCGA novel	insertion	-	NC_000014.9:g.54859718_54859719insCCT	NCI-TCGA
GCH1	P30793	p.Gln161Lys	rs1242519962	missense variant	-	NC_000014.9:g.54859709G>T	TOPMed,gnomAD
GCH1	P30793	p.Gln161Glu	rs1242519962	missense variant	-	NC_000014.9:g.54859709G>C	TOPMed,gnomAD
GCH1	P30793	p.Leu163Val	rs1467095724	missense variant	-	NC_000014.9:g.54859703G>C	gnomAD
GCH1	P30793	p.Leu163Arg	VAR_016898	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gly164Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54859699C>T	NCI-TCGA
GCH1	P30793	p.Leu165Phe	rs755485677	missense variant	-	NC_000014.9:g.54859697G>A	ExAC,gnomAD
GCH1	P30793	p.Leu165Pro	rs1293754137	missense variant	-	NC_000014.9:g.54859696A>G	gnomAD
GCH1	P30793	p.Lys167Ile	COSM1323480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54859690T>A	NCI-TCGA Cosmic
GCH1	P30793	p.Leu168Phe	rs1216579821	missense variant	-	NC_000014.9:g.54859688G>A	gnomAD
GCH1	P30793	p.Ala169Val	rs1362858344	missense variant	-	NC_000014.9:g.54859684G>A	TOPMed,gnomAD
GCH1	P30793	p.Val172Leu	RCV000707481	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54847126C>A	ClinVar
GCH1	P30793	p.Ile174Met	rs1206517443	missense variant	-	NC_000014.9:g.54847118G>C	TOPMed
GCH1	P30793	p.Tyr175Phe	rs781250171	missense variant	-	NC_000014.9:g.54847116T>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ser176Thr	VAR_016899	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg178Ser	VAR_002642	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gln180Arg	RCV000699765	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54847101T>C	ClinVar
GCH1	P30793	p.Gln180Arg	VAR_016900	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gln182Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.54845850G>A	NCI-TCGA
GCH1	P30793	p.Glu183Gln	COSM6076081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54845847C>G	NCI-TCGA Cosmic
GCH1	P30793	p.Arg184His	RCV000009873	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54845843C>T	ClinVar
GCH1	P30793	p.Arg184His	rs104894445	missense variant	-	NC_000014.9:g.54845843C>T	-
GCH1	P30793	p.Arg184His	rs104894445	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54845843C>T	UniProt,dbSNP
GCH1	P30793	p.Arg184His	VAR_002643	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54845843C>T	UniProt
GCH1	P30793	p.Leu185Phe	rs1204984727	missense variant	-	NC_000014.9:g.54845841G>A	gnomAD
GCH1	P30793	p.Thr186Lys	VAR_002644	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Lys187Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54845833T>G	NCI-TCGA
GCH1	P30793	p.Ile189Thr	rs1482443512	missense variant	-	NC_000014.9:g.54845828A>G	TOPMed
GCH1	P30793	p.Ala190Ser	rs1321591583	missense variant	-	NC_000014.9:g.54845826C>A	gnomAD
GCH1	P30793	p.Val191Gly	rs113247490	missense variant	-	NC_000014.9:g.54845822A>C	gnomAD
GCH1	P30793	p.Val191Ile	rs762208304	missense variant	-	NC_000014.9:g.54845823C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Val191Ile	rs762208304	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845823C>T	UniProt,dbSNP
GCH1	P30793	p.Val191Ile	VAR_016901	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845823C>T	UniProt
GCH1	P30793	p.Val191Ala	rs113247490	missense variant	-	NC_000014.9:g.54845822A>G	gnomAD
GCH1	P30793	p.Thr194Met	rs1008663334	missense variant	-	NC_000014.9:g.54845813G>A	TOPMed,gnomAD
GCH1	P30793	p.Glu195Asp	rs1057524015	missense variant	-	NC_000014.9:g.54845809T>G	-
GCH1	P30793	p.Glu195Asp	RCV000437896	missense variant	-	NC_000014.9:g.54845809T>G	ClinVar
GCH1	P30793	p.Ala196Ser	RCV000009867	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845808C>A	ClinVar
GCH1	P30793	p.Ala196Ser	rs104894436	missense variant	-	NC_000014.9:g.54845808C>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ala196Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54845808C>T	NCI-TCGA
GCH1	P30793	p.Arg198Gly	rs752447862	missense variant	-	NC_000014.9:g.54845802G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg198Gln	rs201238926	missense variant	-	NC_000014.9:g.54845801C>T	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg198Trp	rs752447862	missense variant	-	NC_000014.9:g.54845802G>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg198Leu	COSM698345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54845801C>A	NCI-TCGA Cosmic
GCH1	P30793	p.Pro199Ala	rs137852633	missense variant	-	NC_000014.9:g.54845799G>C	-
GCH1	P30793	p.Pro199Ala	RCV000009875	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54845799G>C	ClinVar
GCH1	P30793	p.Pro199Leu	VAR_016902	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gly201Glu	RCV000009856	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845792C>T	ClinVar
GCH1	P30793	p.Gly201Glu	rs104894438	missense variant	-	NC_000014.9:g.54845792C>T	-
GCH1	P30793	p.Gly201Glu	rs104894438	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845792C>T	UniProt,dbSNP
GCH1	P30793	p.Gly201Glu	VAR_002645	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845792C>T	UniProt
GCH1	P30793	p.Gly203Ter	RCV000255434	nonsense	-	NC_000014.9:g.54845787del	ClinVar
GCH1	P30793	p.Gly203Arg	RCV000440945	missense variant	-	NC_000014.9:g.54845787C>T	ClinVar
GCH1	P30793	p.Gly203Arg	RCV000811926	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845787C>T	ClinVar
GCH1	P30793	p.Gly203Arg	rs988395114	missense variant	-	NC_000014.9:g.54845787C>T	-
GCH1	P30793	p.Val204Ile	RCV000148506	missense variant	Dystonia, dopa-responsive	NC_000014.9:g.54845784C>T	ClinVar
GCH1	P30793	p.Val204Ile	RCV000819611	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845784C>T	ClinVar
GCH1	P30793	p.Val204Ile	rs200891969	missense variant	-	NC_000014.9:g.54845784C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Val205Gly	rs1418922853	missense variant	-	NC_000014.9:g.54845780A>C	gnomAD
GCH1	P30793	p.Val205Glu	RCV000696865	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845780A>T	ClinVar
GCH1	P30793	p.Val205Glu	RCV000711754	missense variant	-	NC_000014.9:g.54845780A>T	ClinVar
GCH1	P30793	p.Val206Ile	rs1445453197	missense variant	-	NC_000014.9:g.54845778C>T	gnomAD
GCH1	P30793	p.Val206Ala	rs773159175	missense variant	-	NC_000014.9:g.54845777A>G	ExAC,gnomAD
GCH1	P30793	p.Glu207Lys	rs765035547	missense variant	-	NC_000014.9:g.54845775C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Thr209Ile	rs141634133	missense variant	-	NC_000014.9:g.54845768G>A	ESP,TOPMed,gnomAD
GCH1	P30793	p.Thr209Arg	rs141634133	missense variant	-	NC_000014.9:g.54845768G>C	ESP,TOPMed,gnomAD
GCH1	P30793	p.Thr209Ile	RCV000585040	missense variant	-	NC_000014.9:g.54845768G>A	ClinVar
GCH1	P30793	p.Met211Ile	rs104894443	missense variant	-	NC_000014.9:g.54844137C>T	-
GCH1	P30793	p.Met211Ile	rs104894443	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844137C>T	UniProt,dbSNP
GCH1	P30793	p.Met211Ile	VAR_002647	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844137C>T	UniProt
GCH1	P30793	p.Met211Ile	RCV000009870	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54844137C>T	ClinVar
GCH1	P30793	p.Met211Ter	RCV000255238	frameshift	-	NC_000014.9:g.54844138_54844139del	ClinVar
GCH1	P30793	p.Met211Thr	RCV000785876	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54844138A>G	ClinVar
GCH1	P30793	p.Met211Val	VAR_016903	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Met213Val	rs1348562494	missense variant	-	NC_000014.9:g.54844133T>C	TOPMed
GCH1	P30793	p.Met213Val	rs1348562494	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844133T>C	UniProt,dbSNP
GCH1	P30793	p.Met213Val	VAR_016904	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844133T>C	UniProt
GCH1	P30793	p.Arg216Ter	rs41298440	stop gained	-	NC_000014.9:g.54844124G>A	gnomAD
GCH1	P30793	p.Arg216Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54844124G>C	NCI-TCGA
GCH1	P30793	p.Val218Ile	rs1356427006	missense variant	-	NC_000014.9:g.54844118C>T	TOPMed
GCH1	P30793	p.Gln219Ter	rs1555358382	stop gained	-	NC_000014.9:g.54844115G>A	-
GCH1	P30793	p.Gln219His	rs1371565843	missense variant	-	NC_000014.9:g.54844113C>G	gnomAD
GCH1	P30793	p.Gln219Ter	RCV000626626	nonsense	-	NC_000014.9:g.54844115G>A	ClinVar
GCH1	P30793	p.Met221Thr	RCV000009863	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54844108A>G	ClinVar
GCH1	P30793	p.Met221Thr	rs104894434	missense variant	-	NC_000014.9:g.54844108A>G	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Met221Thr	rs104894434	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844108A>G	UniProt,dbSNP
GCH1	P30793	p.Met221Thr	VAR_016905	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844108A>G	UniProt
GCH1	P30793	p.Asn222Lys	rs773232145	missense variant	-	NC_000014.9:g.54844104G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ser223Thr	rs1398975958	missense variant	-	NC_000014.9:g.54844102C>G	gnomAD
GCH1	P30793	p.Lys224Thr	rs41298442	missense variant	-	NC_000014.9:g.54844099T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Lys224Arg	RCV000009865	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844099T>C	ClinVar
GCH1	P30793	p.Lys224Arg	rs41298442	missense variant	-	NC_000014.9:g.54844099T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Lys224Arg	rs41298442	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844099T>C	UniProt,dbSNP
GCH1	P30793	p.Lys224Arg	VAR_002648	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844099T>C	UniProt
GCH1	P30793	p.Lys224Arg	RCV000009866	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54844099T>C	ClinVar
GCH1	P30793	p.Val226Glu	rs776426317	missense variant	-	NC_000014.9:g.54844093A>T	ExAC,gnomAD
GCH1	P30793	p.Val226Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54844094C>T	NCI-TCGA
GCH1	P30793	p.Ser228Gly	rs1195837853	missense variant	-	NC_000014.9:g.54844088T>C	gnomAD
GCH1	P30793	p.Met230Leu	rs1311873158	missense variant	-	NC_000014.9:g.54844082T>G	gnomAD
GCH1	P30793	p.Leu231Met	COSM6076082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54844079A>T	NCI-TCGA Cosmic
GCH1	P30793	p.Phe234Ser	VAR_002649	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg235Gln	rs1555358380	missense variant	-	NC_000014.9:g.54844066C>T	-
GCH1	P30793	p.Arg235Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54844066C>A	NCI-TCGA
GCH1	P30793	p.Arg235Gln	RCV000626048	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844066C>T	ClinVar
GCH1	P30793	p.Thr240Ser	rs1232746643	missense variant	-	NC_000014.9:g.54844052T>A	gnomAD
GCH1	P30793	p.Arg241Gln	rs775733967	missense variant	-	NC_000014.9:g.54844048C>T	ExAC,gnomAD
GCH1	P30793	p.Arg241Trp	rs1375209791	missense variant	-	NC_000014.9:g.54844049G>A	gnomAD
GCH1	P30793	p.Glu242Lys	rs1296731359	missense variant	-	NC_000014.9:g.54844046C>T	gnomAD
GCH1	P30793	p.Glu243Lys	rs772093408	missense variant	-	NC_000014.9:g.54844043C>T	ExAC
GCH1	P30793	p.Thr246Ile	rs989328098	missense variant	-	NC_000014.9:g.54844033G>A	TOPMed,gnomAD
GCH1	P30793	p.Leu247Phe	COSM3793736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54844031G>A	NCI-TCGA Cosmic
GCH1	P30793	p.Arg249Ser	RCV000518763	missense variant	-	NC_000014.9:g.54844023C>G	ClinVar
GCH1	P30793	p.Arg249Ser	rs104894442	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844023C>G	UniProt,dbSNP
GCH1	P30793	p.Arg249Ser	VAR_016907	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844023C>G	UniProt
GCH1	P30793	p.Arg249Ser	rs104894442	missense variant	-	NC_000014.9:g.54844023C>G	gnomAD
GCH1	P30793	p.Arg249Lys	rs1468205954	missense variant	-	NC_000014.9:g.54844024C>T	TOPMed
GCH1	P30793	p.Ser250Cys	RCV000517024	missense variant	-	NC_000014.9:g.54844022T>A	ClinVar
GCH1	P30793	p.Ser250Cys	rs748132792	missense variant	-	NC_000014.9:g.54844022T>A	gnomAD
GCH1	P30793	p.Ser250Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.54844021C>A	NCI-TCGA
GCH1	P30793	p.Ter251Cys	RCV000550200	stop lost	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844017T>G	ClinVar
GCH1	P30793	p.Ter251Ser	RCV000517972	stop lost	-	NC_000014.9:g.54844018C>G	ClinVar
GCH1	P30793	p.Ter251Cys	rs1555358379	stop lost	-	NC_000014.9:g.54844017T>G	-
GCH1	P30793	p.Ter251Ser	rs201255606	stop lost	-	NC_000014.9:g.54844018C>G	1000Genomes
GCH1	P30793	p.Met1Ile	RCV000009859	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902661C>G	ClinVar
GCH1	P30793	p.Met1Leu	RCV000536548	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902663T>A	ClinVar
GCH1	P30793	p.Gly4Arg	rs764013857	missense variant	-	NC_000014.9:g.54902654C>G	ExAC,gnomAD
GCH1	P30793	p.Pro5Ter	RCV000518820	frameshift	-	NC_000014.9:g.54902647_54902653del	ClinVar
GCH1	P30793	p.Val6Glu	rs1206396500	missense variant	-	NC_000014.9:g.54902647A>T	gnomAD
GCH1	P30793	p.Arg7Gly	rs1167936240	missense variant	-	NC_000014.9:g.54902645G>C	gnomAD
GCH1	P30793	p.Arg7Pro	rs1170513883	missense variant	-	NC_000014.9:g.54902644C>G	TOPMed
GCH1	P30793	p.Arg7Trp	rs1167936240	missense variant	-	NC_000014.9:g.54902645G>A	gnomAD
GCH1	P30793	p.Ala8Pro	rs529381971	missense variant	-	NC_000014.9:g.54902642C>G	1000Genomes,TOPMed,gnomAD
GCH1	P30793	p.Ala8Ser	rs529381971	missense variant	-	NC_000014.9:g.54902642C>A	1000Genomes,TOPMed,gnomAD
GCH1	P30793	p.Ala8Thr	rs529381971	missense variant	-	NC_000014.9:g.54902642C>T	1000Genomes,TOPMed,gnomAD
GCH1	P30793	p.Pro9Leu	rs1262075886	missense variant	-	NC_000014.9:g.54902638G>A	gnomAD
GCH1	P30793	p.Ala10Ser	rs946737110	missense variant	-	NC_000014.9:g.54902636C>A	TOPMed
GCH1	P30793	p.Glu11Ala	rs1272621459	missense variant	-	NC_000014.9:g.54902632T>G	gnomAD
GCH1	P30793	p.Arg14Trp	rs1487411316	missense variant	-	NC_000014.9:g.54902624G>A	TOPMed,gnomAD
GCH1	P30793	p.Gly15Ser	rs1214036983	missense variant	-	NC_000014.9:g.54902621C>T	TOPMed,gnomAD
GCH1	P30793	p.Gly15Asp	VAR_002632	Missense	-	-	UniProt
GCH1	P30793	p.Cys18Ser	rs1299121897	missense variant	-	NC_000014.9:g.54902612A>T	TOPMed
GCH1	P30793	p.Ser19Ile	rs1457270763	missense variant	-	NC_000014.9:g.54902608C>A	gnomAD
GCH1	P30793	p.Gly21Trp	rs1342263570	missense variant	-	NC_000014.9:g.54902603C>A	TOPMed
GCH1	P30793	p.Phe22Val	rs1220614834	missense variant	-	NC_000014.9:g.54902600A>C	gnomAD
GCH1	P30793	p.Pro23Leu	rs41298432	missense variant	-	NC_000014.9:g.54902596G>A	1000Genomes,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro23Leu	rs41298432	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902596G>A	UniProt,dbSNP
GCH1	P30793	p.Pro23Leu	VAR_002633	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902596G>A	UniProt
GCH1	P30793	p.Pro23Ala	rs1308135163	missense variant	-	NC_000014.9:g.54902597G>C	gnomAD
GCH1	P30793	p.Pro23Leu	RCV000535892	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902596G>A	ClinVar
GCH1	P30793	p.Glu24Ter	rs1444127928	stop gained	-	NC_000014.9:g.54902594C>A	TOPMed
GCH1	P30793	p.Pro28Ser	rs759709001	missense variant	-	NC_000014.9:g.54902582G>A	ExAC,gnomAD
GCH1	P30793	p.Pro28Leu	rs774568081	missense variant	-	NC_000014.9:g.54902581G>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro30Arg	rs1477733062	missense variant	-	NC_000014.9:g.54902575G>C	TOPMed
GCH1	P30793	p.Pro30Ser	rs944665606	missense variant	-	NC_000014.9:g.54902576G>A	TOPMed,gnomAD
GCH1	P30793	p.Gly31Val	rs1463121244	missense variant	-	NC_000014.9:g.54902572C>A	TOPMed,gnomAD
GCH1	P30793	p.Gly31Glu	rs1463121244	missense variant	-	NC_000014.9:g.54902572C>T	TOPMed,gnomAD
GCH1	P30793	p.Pro32Ser	rs1456164846	missense variant	-	NC_000014.9:g.54902570G>A	TOPMed
GCH1	P30793	p.Ser33Arg	rs1320254777	missense variant	-	NC_000014.9:g.54902565G>C	TOPMed
GCH1	P30793	p.Ser33Cys	rs1373130817	missense variant	-	NC_000014.9:g.54902567T>A	gnomAD
GCH1	P30793	p.Ala36Glu	rs1431116951	missense variant	-	NC_000014.9:g.54902557G>T	gnomAD
GCH1	P30793	p.Ala36Val	rs1431116951	missense variant	-	NC_000014.9:g.54902557G>A	gnomAD
GCH1	P30793	p.Ala36Ser	rs1030068813	missense variant	-	NC_000014.9:g.54902558C>A	gnomAD
GCH1	P30793	p.Glu37Gly	rs1281740862	missense variant	-	NC_000014.9:g.54902554T>C	gnomAD
GCH1	P30793	p.Pro39Ser	rs770932357	missense variant	-	NC_000014.9:g.54902549G>A	ExAC,gnomAD
GCH1	P30793	p.Pro40Arg	rs995999325	missense variant	-	NC_000014.9:g.54902545G>C	gnomAD
GCH1	P30793	p.Pro40Arg	RCV000556657	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902545G>C	ClinVar
GCH1	P30793	p.Pro42Ser	rs1197458063	missense variant	-	NC_000014.9:g.54902540G>A	gnomAD
GCH1	P30793	p.Pro42Leu	rs1481021061	missense variant	-	NC_000014.9:g.54902539G>A	gnomAD
GCH1	P30793	p.Glu43Ter	RCV000678472	frameshift	Dystonia	NC_000014.9:g.54902540dup	ClinVar
GCH1	P30793	p.Glu43Ter	rs1255523585	stop gained	-	NC_000014.9:g.54902537C>A	gnomAD
GCH1	P30793	p.Ala44Thr	rs1208054607	missense variant	-	NC_000014.9:g.54902534C>T	gnomAD
GCH1	P30793	p.Ser46Gly	rs773925613	missense variant	-	NC_000014.9:g.54902528T>C	ExAC,gnomAD
GCH1	P30793	p.Gln48Ter	RCV000009871	nonsense	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902522G>A	ClinVar
GCH1	P30793	p.Gln48Ter	rs104894444	stop gained	-	NC_000014.9:g.54902522G>A	TOPMed
GCH1	P30793	p.Gln48Lys	rs104894444	missense variant	-	NC_000014.9:g.54902522G>T	TOPMed
GCH1	P30793	p.Pro49Ser	rs573085618	missense variant	-	NC_000014.9:g.54902519G>A	1000Genomes,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro49Leu	rs1330315044	missense variant	-	NC_000014.9:g.54902518G>A	gnomAD
GCH1	P30793	p.Pro49Ala	rs573085618	missense variant	-	NC_000014.9:g.54902519G>C	1000Genomes,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Asp51Glu	RCV000424438	missense variant	-	NC_000014.9:g.54902511G>T	ClinVar
GCH1	P30793	p.Asp51Glu	rs745516526	missense variant	-	NC_000014.9:g.54902511G>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Asp51Tyr	rs755299126	missense variant	-	NC_000014.9:g.54902513C>A	ExAC,gnomAD
GCH1	P30793	p.Gly52Ser	rs375788167	missense variant	-	NC_000014.9:g.54902510C>T	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Gly52Cys	rs375788167	missense variant	-	NC_000014.9:g.54902510C>A	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Trp53Ter	RCV000334247	nonsense	-	NC_000014.9:g.54902505C>T	ClinVar
GCH1	P30793	p.Trp53Ter	rs886041708	stop gained	-	NC_000014.9:g.54902505C>T	-
GCH1	P30793	p.Gly55Asp	rs1464045587	missense variant	-	NC_000014.9:g.54902500C>T	gnomAD
GCH1	P30793	p.Glu56Gly	rs1376965947	missense variant	-	NC_000014.9:g.54902497T>C	gnomAD
GCH1	P30793	p.Arg57Gln	rs756782285	missense variant	-	NC_000014.9:g.54902494C>T	ExAC,gnomAD
GCH1	P30793	p.Pro58Leu	rs1438904628	missense variant	-	NC_000014.9:g.54902491G>A	gnomAD
GCH1	P30793	p.Arg59Cys	rs753312849	missense variant	-	NC_000014.9:g.54902489G>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg59Gly	rs753312849	missense variant	-	NC_000014.9:g.54902489G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ser60Thr	rs756067922	missense variant	-	NC_000014.9:g.54902485C>G	ExAC,gnomAD
GCH1	P30793	p.Glu62Gly	rs1162192311	missense variant	-	NC_000014.9:g.54902479T>C	gnomAD
GCH1	P30793	p.Glu62Asp	rs752590798	missense variant	-	NC_000014.9:g.54902478C>A	ExAC,gnomAD
GCH1	P30793	p.Asp63Asn	rs1404198001	missense variant	-	NC_000014.9:g.54902477C>T	gnomAD
GCH1	P30793	p.Asp63Ter	RCV000634834	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902467_54902478delinsT	ClinVar
GCH1	P30793	p.Glu65Gln	rs1281386674	missense variant	-	NC_000014.9:g.54902471C>G	TOPMed,gnomAD
GCH1	P30793	p.Leu66Pro	rs1042390728	missense variant	-	NC_000014.9:g.54902467A>G	gnomAD
GCH1	P30793	p.Asn67Thr	rs1240134623	missense variant	-	NC_000014.9:g.54902464T>G	gnomAD
GCH1	P30793	p.Pro69Arg	rs56127440	missense variant	-	NC_000014.9:g.54902458G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro69Leu	rs56127440	missense variant	-	NC_000014.9:g.54902458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro69Leu	RCV000687434	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902458G>A	ClinVar
GCH1	P30793	p.Asn70Lys	rs763168809	missense variant	-	NC_000014.9:g.54902454G>C	ExAC,gnomAD
GCH1	P30793	p.Asn70Tyr	rs1356789844	missense variant	-	NC_000014.9:g.54902456T>A	gnomAD
GCH1	P30793	p.Asn70Lys	rs763168809	missense variant	-	NC_000014.9:g.54902454G>T	ExAC,gnomAD
GCH1	P30793	p.Leu71Gln	VAR_016888	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ala72Pro	rs1160103349	missense variant	-	NC_000014.9:g.54902450C>G	gnomAD
GCH1	P30793	p.Ala74Ter	RCV000694754	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902441_54902444del	ClinVar
GCH1	P30793	p.Ala74Val	VAR_016889	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Tyr75Cys	VAR_072733	Missense	-	-	UniProt
GCH1	P30793	p.Ser77Cys	rs748666093	missense variant	-	NC_000014.9:g.54902434G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ile78Asn	rs777135030	missense variant	-	NC_000014.9:g.54902431A>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ile78Met	rs747393714	missense variant	-	NC_000014.9:g.54902430G>C	ExAC,gnomAD
GCH1	P30793	p.Leu79Pro	VAR_002634	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ser80Arg	rs748890014	missense variant	-	NC_000014.9:g.54902424G>T	ExAC,gnomAD
GCH1	P30793	p.Ser80Asn	rs770547722	missense variant	-	NC_000014.9:g.54902425C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Gly83Ala	VAR_016890	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Glu84Gln	rs755556239	missense variant	-	NC_000014.9:g.54902414C>G	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro86Arg	RCV000634831	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902407G>C	ClinVar
GCH1	P30793	p.Pro86Thr	rs781177989	missense variant	-	NC_000014.9:g.54902408G>T	ExAC,gnomAD
GCH1	P30793	p.Pro86Arg	rs1555362836	missense variant	-	NC_000014.9:g.54902407G>C	-
GCH1	P30793	p.Arg88Trp	RCV000009853	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902402G>A	ClinVar
GCH1	P30793	p.Arg88Gly	rs104894433	missense variant	-	NC_000014.9:g.54902402G>C	ExAC,gnomAD
GCH1	P30793	p.Arg88Trp	rs104894433	missense variant	-	NC_000014.9:g.54902402G>A	ExAC,gnomAD
GCH1	P30793	p.Arg88Trp	rs104894433	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902402G>A	UniProt,dbSNP
GCH1	P30793	p.Arg88Trp	VAR_002636	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902402G>A	UniProt
GCH1	P30793	p.Arg88_Gln89del	VAR_016891	inframe_deletion	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg88Pro	VAR_002635	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gln89Lys	rs1293402606	missense variant	-	NC_000014.9:g.54902399G>T	gnomAD
GCH1	P30793	p.Gly90Val	VAR_016892	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Leu92Ile	RCV000626091	missense variant	6-pyruvoyl-tetrahydropterin synthase deficiency (HPABH4A)	NC_000014.9:g.54902390G>T	ClinVar
GCH1	P30793	p.Leu92Ile	rs763294577	missense variant	-	NC_000014.9:g.54902390G>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Lys93Arg	rs960988987	missense variant	-	NC_000014.9:g.54902386T>C	TOPMed,gnomAD
GCH1	P30793	p.Thr94Ter	RCV000551452	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902387dup	ClinVar
GCH1	P30793	p.Thr94Lys	RCV000689484	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902383G>T	ClinVar
GCH1	P30793	p.Pro95Leu	rs886042892	missense variant	-	NC_000014.9:g.54902380G>A	-
GCH1	P30793	p.Pro95Leu	RCV000286942	missense variant	-	NC_000014.9:g.54902380G>A	ClinVar
GCH1	P30793	p.Trp96Ter	rs1482120639	stop gained	-	NC_000014.9:g.54902377C>T	TOPMed
GCH1	P30793	p.Arg97Thr	rs1181621238	missense variant	-	NC_000014.9:g.54902374C>G	TOPMed
GCH1	P30793	p.Ala98Val	VAR_072734	Missense	-	-	UniProt
GCH1	P30793	p.Ala99Ser	RCV000711752	missense variant	-	NC_000014.9:g.54902369C>A	ClinVar
GCH1	P30793	p.Ser100Leu	rs527416949	missense variant	-	NC_000014.9:g.54902365G>A	TOPMed
GCH1	P30793	p.Ala101Thr	RCV000481039	missense variant	-	NC_000014.9:g.54902363C>T	ClinVar
GCH1	P30793	p.Ala101Thr	rs1064796560	missense variant	-	NC_000014.9:g.54902363C>T	TOPMed
GCH1	P30793	p.Met102Lys	VAR_002637	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Met102Arg	VAR_016893	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Phe104Leu	rs1418414015	missense variant	-	NC_000014.9:g.54902354A>G	gnomAD
GCH1	P30793	p.Thr106Ile	VAR_054112	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gly108Asp	RCV000009864	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54902341C>T	ClinVar
GCH1	P30793	p.Gly108Asp	rs104894435	missense variant	-	NC_000014.9:g.54902341C>T	-
GCH1	P30793	p.Gly108Asp	rs104894435	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54902341C>T	UniProt,dbSNP
GCH1	P30793	p.Gly108Asp	VAR_016894	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54902341C>T	UniProt
GCH1	P30793	p.Gly108Asp	RCV000634833	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902341C>T	ClinVar
GCH1	P30793	p.Gln110Glu	RCV000513209	missense variant	-	NC_000014.9:g.54902336G>C	ClinVar
GCH1	P30793	p.Gln110Leu	rs777349671	missense variant	-	NC_000014.9:g.54902335T>A	ExAC,gnomAD
GCH1	P30793	p.Gln110Glu	rs748944982	missense variant	-	NC_000014.9:g.54902336G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Thr112Ser	rs747691325	missense variant	-	NC_000014.9:g.54902329G>C	ExAC,gnomAD
GCH1	P30793	p.Thr112Ala	rs199990434	missense variant	-	NC_000014.9:g.54902330T>C	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ile113Val	rs535517364	missense variant	-	NC_000014.9:g.54902327T>C	1000Genomes,gnomAD
GCH1	P30793	p.Asp115Asn	rs1393095176	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902321C>T	UniProt,dbSNP
GCH1	P30793	p.Asp115Asn	VAR_016895	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902321C>T	UniProt
GCH1	P30793	p.Asp115Asn	rs1393095176	missense variant	-	NC_000014.9:g.54902321C>T	TOPMed
GCH1	P30793	p.Asp115Asn	RCV000624730	missense variant	Inborn genetic diseases	NC_000014.9:g.54902321C>T	ClinVar
GCH1	P30793	p.Asn118Asp	rs1267072369	missense variant	-	NC_000014.9:g.54865428T>C	TOPMed
GCH1	P30793	p.Asp119Tyr	rs1221794990	missense variant	-	NC_000014.9:g.54865425C>A	gnomAD
GCH1	P30793	p.Ile121Val	rs1447471890	missense variant	-	NC_000014.9:g.54865419T>C	gnomAD
GCH1	P30793	p.His126Arg	rs1427825866	missense variant	-	NC_000014.9:g.54865403T>C	TOPMed
GCH1	P30793	p.Val132Ala	RCV000497630	missense variant	-	NC_000014.9:g.54865385A>G	ClinVar
GCH1	P30793	p.Val132Met	rs1359856164	missense variant	-	NC_000014.9:g.54865386C>T	gnomAD
GCH1	P30793	p.Val132Ala	rs1555360034	missense variant	-	NC_000014.9:g.54865385A>G	-
GCH1	P30793	p.Asp134Val	RCV000009854	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865379T>A	ClinVar
GCH1	P30793	p.Asp134Asn	rs1353623780	missense variant	-	NC_000014.9:g.54865380C>T	gnomAD
GCH1	P30793	p.Asp134Val	rs104894437	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865379T>A	UniProt,dbSNP
GCH1	P30793	p.Asp134Val	VAR_002638	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865379T>A	UniProt
GCH1	P30793	p.Asp134Val	rs104894437	missense variant	-	NC_000014.9:g.54865379T>A	-
GCH1	P30793	p.Asp134Asn	RCV000761877	missense variant	-	NC_000014.9:g.54865380C>T	ClinVar
GCH1	P30793	p.Ile135Lys	RCV000009868	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865376A>T	ClinVar
GCH1	P30793	p.Ile135Lys	rs104894441	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865376A>T	UniProt,dbSNP
GCH1	P30793	p.Ile135Lys	VAR_016896	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865376A>T	UniProt
GCH1	P30793	p.Ile135Lys	rs104894441	missense variant	-	NC_000014.9:g.54865376A>T	-
GCH1	P30793	p.Ile135Thr	VAR_072735	Missense	-	-	UniProt
GCH1	P30793	p.Met140Ile	rs1360081603	missense variant	-	NC_000014.9:g.54865360C>T	TOPMed,gnomAD
GCH1	P30793	p.Cys141Arg	VAR_016897	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Cys141Trp	VAR_002639	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.His143Arg	rs764265181	missense variant	-	NC_000014.9:g.54865352T>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.His144Pro	rs104894440	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865349T>G	UniProt,dbSNP
GCH1	P30793	p.His144Pro	VAR_002640	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865349T>G	UniProt
GCH1	P30793	p.His144Pro	rs104894440	missense variant	-	NC_000014.9:g.54865349T>G	-
GCH1	P30793	p.His144Pro	RCV000009860	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865349T>G	ClinVar
GCH1	P30793	p.Val146Leu	rs767979398	missense variant	-	NC_000014.9:g.54865344C>G	ExAC,gnomAD
GCH1	P30793	p.Val146Ile	rs767979398	missense variant	-	NC_000014.9:g.54865344C>T	ExAC,gnomAD
GCH1	P30793	p.Val146Phe	rs767979398	missense variant	-	NC_000014.9:g.54865344C>A	ExAC,gnomAD
GCH1	P30793	p.Val149Ala	rs759958696	missense variant	-	NC_000014.9:g.54865334A>G	ExAC,gnomAD
GCH1	P30793	p.Val152Ile	rs756256944	missense variant	-	NC_000014.9:g.54859736C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.His153Pro	VAR_002641	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ile154Met	RCV000693837	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54859728A>C	ClinVar
GCH1	P30793	p.Ile154Val	rs373220294	missense variant	-	NC_000014.9:g.54859730T>C	gnomAD
GCH1	P30793	p.Gln161Glu	rs1242519962	missense variant	-	NC_000014.9:g.54859709G>C	TOPMed,gnomAD
GCH1	P30793	p.Gln161Lys	rs1242519962	missense variant	-	NC_000014.9:g.54859709G>T	TOPMed,gnomAD
GCH1	P30793	p.Leu163Val	rs1467095724	missense variant	-	NC_000014.9:g.54859703G>C	gnomAD
GCH1	P30793	p.Leu163Arg	VAR_016898	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Leu165Phe	rs755485677	missense variant	-	NC_000014.9:g.54859697G>A	ExAC,gnomAD
GCH1	P30793	p.Leu165Pro	rs1293754137	missense variant	-	NC_000014.9:g.54859696A>G	gnomAD
GCH1	P30793	p.Leu168Phe	rs1216579821	missense variant	-	NC_000014.9:g.54859688G>A	gnomAD
GCH1	P30793	p.Ala169Val	rs1362858344	missense variant	-	NC_000014.9:g.54859684G>A	TOPMed,gnomAD
GCH1	P30793	p.Val172Leu	RCV000707481	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54847126C>A	ClinVar
GCH1	P30793	p.Ile174Met	rs1206517443	missense variant	-	NC_000014.9:g.54847118G>C	TOPMed
GCH1	P30793	p.Tyr175Phe	rs781250171	missense variant	-	NC_000014.9:g.54847116T>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ser176Thr	VAR_016899	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg178Ser	VAR_002642	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gln180Arg	RCV000699765	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54847101T>C	ClinVar
GCH1	P30793	p.Gln180Arg	VAR_016900	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg184His	RCV000009873	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54845843C>T	ClinVar
GCH1	P30793	p.Arg184His	rs104894445	missense variant	-	NC_000014.9:g.54845843C>T	-
GCH1	P30793	p.Arg184His	rs104894445	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54845843C>T	UniProt,dbSNP
GCH1	P30793	p.Arg184His	VAR_002643	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54845843C>T	UniProt
GCH1	P30793	p.Leu185Phe	rs1204984727	missense variant	-	NC_000014.9:g.54845841G>A	gnomAD
GCH1	P30793	p.Thr186Lys	VAR_002644	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ile189Thr	rs1482443512	missense variant	-	NC_000014.9:g.54845828A>G	TOPMed
GCH1	P30793	p.Ala190Ser	rs1321591583	missense variant	-	NC_000014.9:g.54845826C>A	gnomAD
GCH1	P30793	p.Val191Gly	rs113247490	missense variant	-	NC_000014.9:g.54845822A>C	gnomAD
GCH1	P30793	p.Val191Ile	rs762208304	missense variant	-	NC_000014.9:g.54845823C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Val191Ile	rs762208304	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845823C>T	UniProt,dbSNP
GCH1	P30793	p.Val191Ile	VAR_016901	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845823C>T	UniProt
GCH1	P30793	p.Val191Ala	rs113247490	missense variant	-	NC_000014.9:g.54845822A>G	gnomAD
GCH1	P30793	p.Thr194Met	rs1008663334	missense variant	-	NC_000014.9:g.54845813G>A	TOPMed,gnomAD
GCH1	P30793	p.Glu195Asp	rs1057524015	missense variant	-	NC_000014.9:g.54845809T>G	-
GCH1	P30793	p.Glu195Asp	RCV000437896	missense variant	-	NC_000014.9:g.54845809T>G	ClinVar
GCH1	P30793	p.Ala196Ser	RCV000009867	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845808C>A	ClinVar
GCH1	P30793	p.Ala196Ser	rs104894436	missense variant	-	NC_000014.9:g.54845808C>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg198Gly	rs752447862	missense variant	-	NC_000014.9:g.54845802G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg198Gln	rs201238926	missense variant	-	NC_000014.9:g.54845801C>T	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg198Trp	rs752447862	missense variant	-	NC_000014.9:g.54845802G>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro199Ala	RCV000009875	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54845799G>C	ClinVar
GCH1	P30793	p.Pro199Ala	rs137852633	missense variant	-	NC_000014.9:g.54845799G>C	-
GCH1	P30793	p.Pro199Leu	VAR_016902	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gly201Glu	RCV000009856	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845792C>T	ClinVar
GCH1	P30793	p.Gly201Glu	rs104894438	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845792C>T	UniProt,dbSNP
GCH1	P30793	p.Gly201Glu	VAR_002645	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845792C>T	UniProt
GCH1	P30793	p.Gly201Glu	rs104894438	missense variant	-	NC_000014.9:g.54845792C>T	-
GCH1	P30793	p.Gly203Arg	RCV000811926	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845787C>T	ClinVar
GCH1	P30793	p.Gly203Arg	RCV000440945	missense variant	-	NC_000014.9:g.54845787C>T	ClinVar
GCH1	P30793	p.Gly203Ter	RCV000255434	nonsense	-	NC_000014.9:g.54845787del	ClinVar
GCH1	P30793	p.Gly203Arg	rs988395114	missense variant	-	NC_000014.9:g.54845787C>T	-
GCH1	P30793	p.Val204Ile	RCV000819611	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845784C>T	ClinVar
GCH1	P30793	p.Val204Ile	RCV000148506	missense variant	Dystonia, dopa-responsive	NC_000014.9:g.54845784C>T	ClinVar
GCH1	P30793	p.Val204Ile	rs200891969	missense variant	-	NC_000014.9:g.54845784C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Val205Gly	rs1418922853	missense variant	-	NC_000014.9:g.54845780A>C	gnomAD
GCH1	P30793	p.Val205Glu	RCV000696865	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845780A>T	ClinVar
GCH1	P30793	p.Val205Glu	RCV000711754	missense variant	-	NC_000014.9:g.54845780A>T	ClinVar
GCH1	P30793	p.Val206Ala	rs773159175	missense variant	-	NC_000014.9:g.54845777A>G	ExAC,gnomAD
GCH1	P30793	p.Val206Ile	rs1445453197	missense variant	-	NC_000014.9:g.54845778C>T	gnomAD
GCH1	P30793	p.Glu207Lys	rs765035547	missense variant	-	NC_000014.9:g.54845775C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Thr209Arg	rs141634133	missense variant	-	NC_000014.9:g.54845768G>C	ESP,TOPMed,gnomAD
GCH1	P30793	p.Thr209Ile	rs141634133	missense variant	-	NC_000014.9:g.54845768G>A	ESP,TOPMed,gnomAD
GCH1	P30793	p.Thr209Ile	RCV000585040	missense variant	-	NC_000014.9:g.54845768G>A	ClinVar
GCH1	P30793	p.Met211Ile	rs104894443	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844137C>T	UniProt,dbSNP
GCH1	P30793	p.Met211Ile	VAR_002647	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844137C>T	UniProt
GCH1	P30793	p.Met211Ile	rs104894443	missense variant	-	NC_000014.9:g.54844137C>T	-
GCH1	P30793	p.Met211Ile	RCV000009870	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54844137C>T	ClinVar
GCH1	P30793	p.Met211Ter	RCV000255238	frameshift	-	NC_000014.9:g.54844138_54844139del	ClinVar
GCH1	P30793	p.Met211Thr	RCV000785876	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54844138A>G	ClinVar
GCH1	P30793	p.Met211Val	VAR_016903	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Met213Val	rs1348562494	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844133T>C	UniProt,dbSNP
GCH1	P30793	p.Met213Val	VAR_016904	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844133T>C	UniProt
GCH1	P30793	p.Met213Val	rs1348562494	missense variant	-	NC_000014.9:g.54844133T>C	TOPMed
GCH1	P30793	p.Arg216Ter	rs41298440	stop gained	-	NC_000014.9:g.54844124G>A	gnomAD
GCH1	P30793	p.Val218Ile	rs1356427006	missense variant	-	NC_000014.9:g.54844118C>T	TOPMed
GCH1	P30793	p.Gln219Ter	RCV000626626	nonsense	-	NC_000014.9:g.54844115G>A	ClinVar
GCH1	P30793	p.Gln219His	rs1371565843	missense variant	-	NC_000014.9:g.54844113C>G	gnomAD
GCH1	P30793	p.Gln219Ter	rs1555358382	stop gained	-	NC_000014.9:g.54844115G>A	-
GCH1	P30793	p.Met221Thr	RCV000009863	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54844108A>G	ClinVar
GCH1	P30793	p.Met221Thr	rs104894434	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844108A>G	UniProt,dbSNP
GCH1	P30793	p.Met221Thr	VAR_016905	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844108A>G	UniProt
GCH1	P30793	p.Met221Thr	rs104894434	missense variant	-	NC_000014.9:g.54844108A>G	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Asn222Lys	rs773232145	missense variant	-	NC_000014.9:g.54844104G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ser223Thr	rs1398975958	missense variant	-	NC_000014.9:g.54844102C>G	gnomAD
GCH1	P30793	p.Lys224Thr	rs41298442	missense variant	-	NC_000014.9:g.54844099T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Lys224Arg	rs41298442	missense variant	-	NC_000014.9:g.54844099T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Lys224Arg	RCV000009865	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844099T>C	ClinVar
GCH1	P30793	p.Lys224Arg	rs41298442	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844099T>C	UniProt,dbSNP
GCH1	P30793	p.Lys224Arg	VAR_002648	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844099T>C	UniProt
GCH1	P30793	p.Lys224Arg	RCV000009866	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54844099T>C	ClinVar
GCH1	P30793	p.Val226Glu	rs776426317	missense variant	-	NC_000014.9:g.54844093A>T	ExAC,gnomAD
GCH1	P30793	p.Ser228Gly	rs1195837853	missense variant	-	NC_000014.9:g.54844088T>C	gnomAD
GCH1	P30793	p.Met230Leu	rs1311873158	missense variant	-	NC_000014.9:g.54844082T>G	gnomAD
GCH1	P30793	p.Phe234Ser	VAR_002649	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg235Gln	rs1555358380	missense variant	-	NC_000014.9:g.54844066C>T	-
GCH1	P30793	p.Arg235Gln	RCV000626048	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844066C>T	ClinVar
GCH1	P30793	p.Thr240Ser	rs1232746643	missense variant	-	NC_000014.9:g.54844052T>A	gnomAD
GCH1	P30793	p.Arg241Trp	rs1375209791	missense variant	-	NC_000014.9:g.54844049G>A	gnomAD
GCH1	P30793	p.Arg241Gln	rs775733967	missense variant	-	NC_000014.9:g.54844048C>T	ExAC,gnomAD
GCH1	P30793	p.Glu242Lys	rs1296731359	missense variant	-	NC_000014.9:g.54844046C>T	gnomAD
GCH1	P30793	p.Glu243Lys	rs772093408	missense variant	-	NC_000014.9:g.54844043C>T	ExAC
GCH1	P30793	p.Thr246Ile	rs989328098	missense variant	-	NC_000014.9:g.54844033G>A	TOPMed,gnomAD
GCH1	P30793	p.Arg249Ser	rs104894442	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844023C>G	UniProt,dbSNP
GCH1	P30793	p.Arg249Ser	VAR_016907	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844023C>G	UniProt
GCH1	P30793	p.Arg249Ser	RCV000518763	missense variant	-	NC_000014.9:g.54844023C>G	ClinVar
GCH1	P30793	p.Arg249Lys	rs1468205954	missense variant	-	NC_000014.9:g.54844024C>T	TOPMed
GCH1	P30793	p.Arg249Ser	rs104894442	missense variant	-	NC_000014.9:g.54844023C>G	gnomAD
GCH1	P30793	p.Ser250Cys	RCV000517024	missense variant	-	NC_000014.9:g.54844022T>A	ClinVar
GCH1	P30793	p.Ser250Cys	rs748132792	missense variant	-	NC_000014.9:g.54844022T>A	gnomAD
GCH1	P30793	p.Ter251Cys	RCV000550200	stop lost	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844017T>G	ClinVar
GCH1	P30793	p.Ter251Cys	rs1555358379	stop lost	-	NC_000014.9:g.54844017T>G	-
GCH1	P30793	p.Ter251Ser	rs201255606	stop lost	-	NC_000014.9:g.54844018C>G	1000Genomes
GCH1	P30793	p.Ter251Ser	RCV000517972	stop lost	-	NC_000014.9:g.54844018C>G	ClinVar
GCH1	P30793	p.Met1Ile	RCV000009859	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902661C>G	ClinVar
GCH1	P30793	p.Met1Leu	RCV000536548	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902663T>A	ClinVar
GCH1	P30793	p.Gly4Arg	rs764013857	missense variant	-	NC_000014.9:g.54902654C>G	ExAC,gnomAD
GCH1	P30793	p.Pro5Ter	RCV000518820	frameshift	-	NC_000014.9:g.54902647_54902653del	ClinVar
GCH1	P30793	p.Val6Glu	rs1206396500	missense variant	-	NC_000014.9:g.54902647A>T	gnomAD
GCH1	P30793	p.Arg7Pro	rs1170513883	missense variant	-	NC_000014.9:g.54902644C>G	TOPMed
GCH1	P30793	p.Arg7Gly	rs1167936240	missense variant	-	NC_000014.9:g.54902645G>C	gnomAD
GCH1	P30793	p.Arg7Trp	rs1167936240	missense variant	-	NC_000014.9:g.54902645G>A	gnomAD
GCH1	P30793	p.Ala8Pro	rs529381971	missense variant	-	NC_000014.9:g.54902642C>G	1000Genomes,TOPMed,gnomAD
GCH1	P30793	p.Ala8Ser	rs529381971	missense variant	-	NC_000014.9:g.54902642C>A	1000Genomes,TOPMed,gnomAD
GCH1	P30793	p.Ala8Thr	rs529381971	missense variant	-	NC_000014.9:g.54902642C>T	1000Genomes,TOPMed,gnomAD
GCH1	P30793	p.Pro9Leu	rs1262075886	missense variant	-	NC_000014.9:g.54902638G>A	gnomAD
GCH1	P30793	p.Ala10Ser	rs946737110	missense variant	-	NC_000014.9:g.54902636C>A	TOPMed
GCH1	P30793	p.Glu11Ala	rs1272621459	missense variant	-	NC_000014.9:g.54902632T>G	gnomAD
GCH1	P30793	p.Arg14Trp	rs1487411316	missense variant	-	NC_000014.9:g.54902624G>A	TOPMed,gnomAD
GCH1	P30793	p.Gly15Ser	rs1214036983	missense variant	-	NC_000014.9:g.54902621C>T	TOPMed,gnomAD
GCH1	P30793	p.Gly15Asp	VAR_002632	Missense	-	-	UniProt
GCH1	P30793	p.Cys18Ser	rs1299121897	missense variant	-	NC_000014.9:g.54902612A>T	TOPMed
GCH1	P30793	p.Ser19Ile	rs1457270763	missense variant	-	NC_000014.9:g.54902608C>A	gnomAD
GCH1	P30793	p.Gly21Trp	rs1342263570	missense variant	-	NC_000014.9:g.54902603C>A	TOPMed
GCH1	P30793	p.Phe22Val	rs1220614834	missense variant	-	NC_000014.9:g.54902600A>C	gnomAD
GCH1	P30793	p.Pro23Leu	rs41298432	missense variant	-	NC_000014.9:g.54902596G>A	1000Genomes,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro23Leu	rs41298432	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902596G>A	UniProt,dbSNP
GCH1	P30793	p.Pro23Leu	VAR_002633	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902596G>A	UniProt
GCH1	P30793	p.Pro23Ala	rs1308135163	missense variant	-	NC_000014.9:g.54902597G>C	gnomAD
GCH1	P30793	p.Pro23Leu	RCV000535892	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902596G>A	ClinVar
GCH1	P30793	p.Glu24Ter	rs1444127928	stop gained	-	NC_000014.9:g.54902594C>A	TOPMed
GCH1	P30793	p.Pro28Leu	rs774568081	missense variant	-	NC_000014.9:g.54902581G>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro28Ser	rs759709001	missense variant	-	NC_000014.9:g.54902582G>A	ExAC,gnomAD
GCH1	P30793	p.Pro30Arg	rs1477733062	missense variant	-	NC_000014.9:g.54902575G>C	TOPMed
GCH1	P30793	p.Pro30Ser	rs944665606	missense variant	-	NC_000014.9:g.54902576G>A	TOPMed,gnomAD
GCH1	P30793	p.Gly31Val	rs1463121244	missense variant	-	NC_000014.9:g.54902572C>A	TOPMed,gnomAD
GCH1	P30793	p.Gly31Glu	rs1463121244	missense variant	-	NC_000014.9:g.54902572C>T	TOPMed,gnomAD
GCH1	P30793	p.Pro32Ser	rs1456164846	missense variant	-	NC_000014.9:g.54902570G>A	TOPMed
GCH1	P30793	p.Ser33Cys	rs1373130817	missense variant	-	NC_000014.9:g.54902567T>A	gnomAD
GCH1	P30793	p.Ser33Arg	rs1320254777	missense variant	-	NC_000014.9:g.54902565G>C	TOPMed
GCH1	P30793	p.Ala36Ser	rs1030068813	missense variant	-	NC_000014.9:g.54902558C>A	gnomAD
GCH1	P30793	p.Ala36Glu	rs1431116951	missense variant	-	NC_000014.9:g.54902557G>T	gnomAD
GCH1	P30793	p.Ala36Val	rs1431116951	missense variant	-	NC_000014.9:g.54902557G>A	gnomAD
GCH1	P30793	p.Glu37Gly	rs1281740862	missense variant	-	NC_000014.9:g.54902554T>C	gnomAD
GCH1	P30793	p.Pro39Ser	rs770932357	missense variant	-	NC_000014.9:g.54902549G>A	ExAC,gnomAD
GCH1	P30793	p.Pro40Arg	RCV000556657	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902545G>C	ClinVar
GCH1	P30793	p.Pro40Arg	rs995999325	missense variant	-	NC_000014.9:g.54902545G>C	gnomAD
GCH1	P30793	p.Pro42Ser	rs1197458063	missense variant	-	NC_000014.9:g.54902540G>A	gnomAD
GCH1	P30793	p.Pro42Leu	rs1481021061	missense variant	-	NC_000014.9:g.54902539G>A	gnomAD
GCH1	P30793	p.Glu43Ter	rs1255523585	stop gained	-	NC_000014.9:g.54902537C>A	gnomAD
GCH1	P30793	p.Glu43Ter	RCV000678472	frameshift	Dystonia	NC_000014.9:g.54902540dup	ClinVar
GCH1	P30793	p.Ala44Thr	rs1208054607	missense variant	-	NC_000014.9:g.54902534C>T	gnomAD
GCH1	P30793	p.Ser46Gly	rs773925613	missense variant	-	NC_000014.9:g.54902528T>C	ExAC,gnomAD
GCH1	P30793	p.Gln48Ter	RCV000009871	nonsense	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902522G>A	ClinVar
GCH1	P30793	p.Gln48Lys	rs104894444	missense variant	-	NC_000014.9:g.54902522G>T	TOPMed
GCH1	P30793	p.Gln48Ter	rs104894444	stop gained	-	NC_000014.9:g.54902522G>A	TOPMed
GCH1	P30793	p.Pro49Ala	rs573085618	missense variant	-	NC_000014.9:g.54902519G>C	1000Genomes,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro49Leu	rs1330315044	missense variant	-	NC_000014.9:g.54902518G>A	gnomAD
GCH1	P30793	p.Pro49Ser	rs573085618	missense variant	-	NC_000014.9:g.54902519G>A	1000Genomes,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Asp51Glu	RCV000424438	missense variant	-	NC_000014.9:g.54902511G>T	ClinVar
GCH1	P30793	p.Asp51Glu	rs745516526	missense variant	-	NC_000014.9:g.54902511G>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Asp51Tyr	rs755299126	missense variant	-	NC_000014.9:g.54902513C>A	ExAC,gnomAD
GCH1	P30793	p.Gly52Ser	rs375788167	missense variant	-	NC_000014.9:g.54902510C>T	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Gly52Cys	rs375788167	missense variant	-	NC_000014.9:g.54902510C>A	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Trp53Ter	RCV000334247	nonsense	-	NC_000014.9:g.54902505C>T	ClinVar
GCH1	P30793	p.Trp53Ter	rs886041708	stop gained	-	NC_000014.9:g.54902505C>T	-
GCH1	P30793	p.Gly55Asp	rs1464045587	missense variant	-	NC_000014.9:g.54902500C>T	gnomAD
GCH1	P30793	p.Glu56Gly	rs1376965947	missense variant	-	NC_000014.9:g.54902497T>C	gnomAD
GCH1	P30793	p.Arg57Gln	rs756782285	missense variant	-	NC_000014.9:g.54902494C>T	ExAC,gnomAD
GCH1	P30793	p.Pro58Leu	rs1438904628	missense variant	-	NC_000014.9:g.54902491G>A	gnomAD
GCH1	P30793	p.Arg59Cys	rs753312849	missense variant	-	NC_000014.9:g.54902489G>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg59Gly	rs753312849	missense variant	-	NC_000014.9:g.54902489G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ser60Thr	rs756067922	missense variant	-	NC_000014.9:g.54902485C>G	ExAC,gnomAD
GCH1	P30793	p.Glu62Gly	rs1162192311	missense variant	-	NC_000014.9:g.54902479T>C	gnomAD
GCH1	P30793	p.Glu62Asp	rs752590798	missense variant	-	NC_000014.9:g.54902478C>A	ExAC,gnomAD
GCH1	P30793	p.Asp63Ter	RCV000634834	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902467_54902478delinsT	ClinVar
GCH1	P30793	p.Asp63Asn	rs1404198001	missense variant	-	NC_000014.9:g.54902477C>T	gnomAD
GCH1	P30793	p.Glu65Gln	rs1281386674	missense variant	-	NC_000014.9:g.54902471C>G	TOPMed,gnomAD
GCH1	P30793	p.Leu66Pro	rs1042390728	missense variant	-	NC_000014.9:g.54902467A>G	gnomAD
GCH1	P30793	p.Asn67Thr	rs1240134623	missense variant	-	NC_000014.9:g.54902464T>G	gnomAD
GCH1	P30793	p.Pro69Leu	rs56127440	missense variant	-	NC_000014.9:g.54902458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro69Arg	rs56127440	missense variant	-	NC_000014.9:g.54902458G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro69Leu	RCV000687434	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902458G>A	ClinVar
GCH1	P30793	p.Asn70Tyr	rs1356789844	missense variant	-	NC_000014.9:g.54902456T>A	gnomAD
GCH1	P30793	p.Asn70Lys	rs763168809	missense variant	-	NC_000014.9:g.54902454G>T	ExAC,gnomAD
GCH1	P30793	p.Asn70Lys	rs763168809	missense variant	-	NC_000014.9:g.54902454G>C	ExAC,gnomAD
GCH1	P30793	p.Leu71Gln	VAR_016888	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ala72Pro	rs1160103349	missense variant	-	NC_000014.9:g.54902450C>G	gnomAD
GCH1	P30793	p.Ala74Ter	RCV000694754	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902441_54902444del	ClinVar
GCH1	P30793	p.Ala74Val	VAR_016889	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Tyr75Cys	VAR_072733	Missense	-	-	UniProt
GCH1	P30793	p.Ser77Cys	rs748666093	missense variant	-	NC_000014.9:g.54902434G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ile78Asn	rs777135030	missense variant	-	NC_000014.9:g.54902431A>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ile78Met	rs747393714	missense variant	-	NC_000014.9:g.54902430G>C	ExAC,gnomAD
GCH1	P30793	p.Leu79Pro	VAR_002634	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ser80Arg	rs748890014	missense variant	-	NC_000014.9:g.54902424G>T	ExAC,gnomAD
GCH1	P30793	p.Ser80Asn	rs770547722	missense variant	-	NC_000014.9:g.54902425C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Gly83Ala	VAR_016890	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Glu84Gln	rs755556239	missense variant	-	NC_000014.9:g.54902414C>G	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro86Arg	rs1555362836	missense variant	-	NC_000014.9:g.54902407G>C	-
GCH1	P30793	p.Pro86Thr	rs781177989	missense variant	-	NC_000014.9:g.54902408G>T	ExAC,gnomAD
GCH1	P30793	p.Pro86Arg	RCV000634831	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902407G>C	ClinVar
GCH1	P30793	p.Arg88Trp	RCV000009853	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902402G>A	ClinVar
GCH1	P30793	p.Arg88Gly	rs104894433	missense variant	-	NC_000014.9:g.54902402G>C	ExAC,gnomAD
GCH1	P30793	p.Arg88Trp	rs104894433	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902402G>A	UniProt,dbSNP
GCH1	P30793	p.Arg88Trp	VAR_002636	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902402G>A	UniProt
GCH1	P30793	p.Arg88Trp	rs104894433	missense variant	-	NC_000014.9:g.54902402G>A	ExAC,gnomAD
GCH1	P30793	p.Arg88_Gln89del	VAR_016891	inframe_deletion	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg88Pro	VAR_002635	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gln89Lys	rs1293402606	missense variant	-	NC_000014.9:g.54902399G>T	gnomAD
GCH1	P30793	p.Gly90Val	VAR_016892	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Leu92Ile	RCV000626091	missense variant	6-pyruvoyl-tetrahydropterin synthase deficiency (HPABH4A)	NC_000014.9:g.54902390G>T	ClinVar
GCH1	P30793	p.Leu92Ile	rs763294577	missense variant	-	NC_000014.9:g.54902390G>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Lys93Arg	rs960988987	missense variant	-	NC_000014.9:g.54902386T>C	TOPMed,gnomAD
GCH1	P30793	p.Thr94Lys	RCV000689484	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902383G>T	ClinVar
GCH1	P30793	p.Thr94Ter	RCV000551452	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902387dup	ClinVar
GCH1	P30793	p.Pro95Leu	rs886042892	missense variant	-	NC_000014.9:g.54902380G>A	-
GCH1	P30793	p.Pro95Leu	RCV000286942	missense variant	-	NC_000014.9:g.54902380G>A	ClinVar
GCH1	P30793	p.Trp96Ter	rs1482120639	stop gained	-	NC_000014.9:g.54902377C>T	TOPMed
GCH1	P30793	p.Arg97Thr	rs1181621238	missense variant	-	NC_000014.9:g.54902374C>G	TOPMed
GCH1	P30793	p.Ala98Val	VAR_072734	Missense	-	-	UniProt
GCH1	P30793	p.Ala99Ser	RCV000711752	missense variant	-	NC_000014.9:g.54902369C>A	ClinVar
GCH1	P30793	p.Ser100Leu	rs527416949	missense variant	-	NC_000014.9:g.54902365G>A	TOPMed
GCH1	P30793	p.Ala101Thr	RCV000481039	missense variant	-	NC_000014.9:g.54902363C>T	ClinVar
GCH1	P30793	p.Ala101Thr	rs1064796560	missense variant	-	NC_000014.9:g.54902363C>T	TOPMed
GCH1	P30793	p.Met102Lys	VAR_002637	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Met102Arg	VAR_016893	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Phe104Leu	rs1418414015	missense variant	-	NC_000014.9:g.54902354A>G	gnomAD
GCH1	P30793	p.Thr106Ile	VAR_054112	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gly108Asp	RCV000009864	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54902341C>T	ClinVar
GCH1	P30793	p.Gly108Asp	rs104894435	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54902341C>T	UniProt,dbSNP
GCH1	P30793	p.Gly108Asp	VAR_016894	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54902341C>T	UniProt
GCH1	P30793	p.Gly108Asp	RCV000634833	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902341C>T	ClinVar
GCH1	P30793	p.Gln110Glu	RCV000513209	missense variant	-	NC_000014.9:g.54902336G>C	ClinVar
GCH1	P30793	p.Gln110Leu	rs777349671	missense variant	-	NC_000014.9:g.54902335T>A	ExAC,gnomAD
GCH1	P30793	p.Gln110Glu	rs748944982	missense variant	-	NC_000014.9:g.54902336G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Thr112Ala	rs199990434	missense variant	-	NC_000014.9:g.54902330T>C	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Thr112Ser	rs747691325	missense variant	-	NC_000014.9:g.54902329G>C	ExAC,gnomAD
GCH1	P30793	p.Ile113Val	rs535517364	missense variant	-	NC_000014.9:g.54902327T>C	1000Genomes,gnomAD
GCH1	P30793	p.Asp115Asn	rs1393095176	missense variant	-	NC_000014.9:g.54902321C>T	TOPMed
GCH1	P30793	p.Asp115Asn	rs1393095176	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902321C>T	UniProt,dbSNP
GCH1	P30793	p.Asp115Asn	VAR_016895	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902321C>T	UniProt
GCH1	P30793	p.Asp115Asn	RCV000624730	missense variant	Inborn genetic diseases	NC_000014.9:g.54902321C>T	ClinVar
GCH1	P30793	p.Asn118Asp	rs1267072369	missense variant	-	NC_000014.9:g.54865428T>C	TOPMed
GCH1	P30793	p.Asp119Tyr	rs1221794990	missense variant	-	NC_000014.9:g.54865425C>A	gnomAD
GCH1	P30793	p.Ile121Val	rs1447471890	missense variant	-	NC_000014.9:g.54865419T>C	gnomAD
GCH1	P30793	p.His126Arg	rs1427825866	missense variant	-	NC_000014.9:g.54865403T>C	TOPMed
GCH1	P30793	p.Val132Ala	RCV000497630	missense variant	-	NC_000014.9:g.54865385A>G	ClinVar
GCH1	P30793	p.Val132Met	rs1359856164	missense variant	-	NC_000014.9:g.54865386C>T	gnomAD
GCH1	P30793	p.Val132Ala	rs1555360034	missense variant	-	NC_000014.9:g.54865385A>G	-
GCH1	P30793	p.Asp134Val	RCV000009854	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865379T>A	ClinVar
GCH1	P30793	p.Asp134Val	rs104894437	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865379T>A	UniProt,dbSNP
GCH1	P30793	p.Asp134Val	VAR_002638	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865379T>A	UniProt
GCH1	P30793	p.Asp134Val	rs104894437	missense variant	-	NC_000014.9:g.54865379T>A	-
GCH1	P30793	p.Asp134Asn	rs1353623780	missense variant	-	NC_000014.9:g.54865380C>T	gnomAD
GCH1	P30793	p.Asp134Asn	RCV000761877	missense variant	-	NC_000014.9:g.54865380C>T	ClinVar
GCH1	P30793	p.Ile135Lys	RCV000009868	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865376A>T	ClinVar
GCH1	P30793	p.Ile135Lys	rs104894441	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865376A>T	UniProt,dbSNP
GCH1	P30793	p.Ile135Lys	VAR_016896	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865376A>T	UniProt
GCH1	P30793	p.Ile135Lys	rs104894441	missense variant	-	NC_000014.9:g.54865376A>T	-
GCH1	P30793	p.Ile135Thr	VAR_072735	Missense	-	-	UniProt
GCH1	P30793	p.Met140Ile	rs1360081603	missense variant	-	NC_000014.9:g.54865360C>T	TOPMed,gnomAD
GCH1	P30793	p.Cys141Arg	VAR_016897	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Cys141Trp	VAR_002639	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.His143Arg	rs764265181	missense variant	-	NC_000014.9:g.54865352T>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.His144Pro	rs104894440	missense variant	-	NC_000014.9:g.54865349T>G	-
GCH1	P30793	p.His144Pro	rs104894440	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865349T>G	UniProt,dbSNP
GCH1	P30793	p.His144Pro	VAR_002640	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865349T>G	UniProt
GCH1	P30793	p.His144Pro	RCV000009860	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865349T>G	ClinVar
GCH1	P30793	p.Val146Leu	rs767979398	missense variant	-	NC_000014.9:g.54865344C>G	ExAC,gnomAD
GCH1	P30793	p.Val146Phe	rs767979398	missense variant	-	NC_000014.9:g.54865344C>A	ExAC,gnomAD
GCH1	P30793	p.Val146Ile	rs767979398	missense variant	-	NC_000014.9:g.54865344C>T	ExAC,gnomAD
GCH1	P30793	p.Val149Ala	rs759958696	missense variant	-	NC_000014.9:g.54865334A>G	ExAC,gnomAD
GCH1	P30793	p.Val152Ile	rs756256944	missense variant	-	NC_000014.9:g.54859736C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.His153Pro	VAR_002641	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ile154Val	rs373220294	missense variant	-	NC_000014.9:g.54859730T>C	gnomAD
GCH1	P30793	p.Ile154Met	RCV000693837	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54859728A>C	ClinVar
GCH1	P30793	p.Gln161Lys	rs1242519962	missense variant	-	NC_000014.9:g.54859709G>T	TOPMed,gnomAD
GCH1	P30793	p.Gln161Glu	rs1242519962	missense variant	-	NC_000014.9:g.54859709G>C	TOPMed,gnomAD
GCH1	P30793	p.Leu163Val	rs1467095724	missense variant	-	NC_000014.9:g.54859703G>C	gnomAD
GCH1	P30793	p.Leu163Arg	VAR_016898	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Leu165Phe	rs755485677	missense variant	-	NC_000014.9:g.54859697G>A	ExAC,gnomAD
GCH1	P30793	p.Leu165Pro	rs1293754137	missense variant	-	NC_000014.9:g.54859696A>G	gnomAD
GCH1	P30793	p.Leu168Phe	rs1216579821	missense variant	-	NC_000014.9:g.54859688G>A	gnomAD
GCH1	P30793	p.Ala169Val	rs1362858344	missense variant	-	NC_000014.9:g.54859684G>A	TOPMed,gnomAD
GCH1	P30793	p.Val172Leu	RCV000707481	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54847126C>A	ClinVar
GCH1	P30793	p.Ile174Met	rs1206517443	missense variant	-	NC_000014.9:g.54847118G>C	TOPMed
GCH1	P30793	p.Tyr175Phe	rs781250171	missense variant	-	NC_000014.9:g.54847116T>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ser176Thr	VAR_016899	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg178Ser	VAR_002642	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gln180Arg	RCV000699765	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54847101T>C	ClinVar
GCH1	P30793	p.Gln180Arg	VAR_016900	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg184His	RCV000009873	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54845843C>T	ClinVar
GCH1	P30793	p.Arg184His	rs104894445	missense variant	-	NC_000014.9:g.54845843C>T	-
GCH1	P30793	p.Arg184His	rs104894445	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54845843C>T	UniProt,dbSNP
GCH1	P30793	p.Arg184His	VAR_002643	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54845843C>T	UniProt
GCH1	P30793	p.Leu185Phe	rs1204984727	missense variant	-	NC_000014.9:g.54845841G>A	gnomAD
GCH1	P30793	p.Thr186Lys	VAR_002644	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Ile189Thr	rs1482443512	missense variant	-	NC_000014.9:g.54845828A>G	TOPMed
GCH1	P30793	p.Ala190Ser	rs1321591583	missense variant	-	NC_000014.9:g.54845826C>A	gnomAD
GCH1	P30793	p.Val191Ala	rs113247490	missense variant	-	NC_000014.9:g.54845822A>G	gnomAD
GCH1	P30793	p.Val191Gly	rs113247490	missense variant	-	NC_000014.9:g.54845822A>C	gnomAD
GCH1	P30793	p.Val191Ile	rs762208304	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845823C>T	UniProt,dbSNP
GCH1	P30793	p.Val191Ile	VAR_016901	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845823C>T	UniProt
GCH1	P30793	p.Val191Ile	rs762208304	missense variant	-	NC_000014.9:g.54845823C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Thr194Met	rs1008663334	missense variant	-	NC_000014.9:g.54845813G>A	TOPMed,gnomAD
GCH1	P30793	p.Glu195Asp	rs1057524015	missense variant	-	NC_000014.9:g.54845809T>G	-
GCH1	P30793	p.Glu195Asp	RCV000437896	missense variant	-	NC_000014.9:g.54845809T>G	ClinVar
GCH1	P30793	p.Ala196Ser	RCV000009867	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845808C>A	ClinVar
GCH1	P30793	p.Ala196Ser	rs104894436	missense variant	-	NC_000014.9:g.54845808C>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg198Gly	rs752447862	missense variant	-	NC_000014.9:g.54845802G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg198Gln	rs201238926	missense variant	-	NC_000014.9:g.54845801C>T	ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Arg198Trp	rs752447862	missense variant	-	NC_000014.9:g.54845802G>A	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Pro199Ala	rs137852633	missense variant	-	NC_000014.9:g.54845799G>C	-
GCH1	P30793	p.Pro199Ala	RCV000009875	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54845799G>C	ClinVar
GCH1	P30793	p.Pro199Leu	VAR_016902	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Gly201Glu	RCV000009856	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845792C>T	ClinVar
GCH1	P30793	p.Gly201Glu	rs104894438	missense variant	-	NC_000014.9:g.54845792C>T	-
GCH1	P30793	p.Gly201Glu	rs104894438	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845792C>T	UniProt,dbSNP
GCH1	P30793	p.Gly201Glu	VAR_002645	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845792C>T	UniProt
GCH1	P30793	p.Gly203Arg	RCV000811926	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845787C>T	ClinVar
GCH1	P30793	p.Gly203Arg	RCV000440945	missense variant	-	NC_000014.9:g.54845787C>T	ClinVar
GCH1	P30793	p.Gly203Ter	RCV000255434	nonsense	-	NC_000014.9:g.54845787del	ClinVar
GCH1	P30793	p.Gly203Arg	rs988395114	missense variant	-	NC_000014.9:g.54845787C>T	-
GCH1	P30793	p.Val204Ile	rs200891969	missense variant	-	NC_000014.9:g.54845784C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Val204Ile	RCV000819611	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845784C>T	ClinVar
GCH1	P30793	p.Val204Ile	RCV000148506	missense variant	Dystonia, dopa-responsive	NC_000014.9:g.54845784C>T	ClinVar
GCH1	P30793	p.Val205Gly	rs1418922853	missense variant	-	NC_000014.9:g.54845780A>C	gnomAD
GCH1	P30793	p.Val205Glu	RCV000711754	missense variant	-	NC_000014.9:g.54845780A>T	ClinVar
GCH1	P30793	p.Val205Glu	RCV000696865	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845780A>T	ClinVar
GCH1	P30793	p.Val206Ala	rs773159175	missense variant	-	NC_000014.9:g.54845777A>G	ExAC,gnomAD
GCH1	P30793	p.Val206Ile	rs1445453197	missense variant	-	NC_000014.9:g.54845778C>T	gnomAD
GCH1	P30793	p.Glu207Lys	rs765035547	missense variant	-	NC_000014.9:g.54845775C>T	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Thr209Arg	rs141634133	missense variant	-	NC_000014.9:g.54845768G>C	ESP,TOPMed,gnomAD
GCH1	P30793	p.Thr209Ile	rs141634133	missense variant	-	NC_000014.9:g.54845768G>A	ESP,TOPMed,gnomAD
GCH1	P30793	p.Thr209Ile	RCV000585040	missense variant	-	NC_000014.9:g.54845768G>A	ClinVar
GCH1	P30793	p.Met211Thr	RCV000785876	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54844138A>G	ClinVar
GCH1	P30793	p.Met211Ile	rs104894443	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844137C>T	UniProt,dbSNP
GCH1	P30793	p.Met211Ile	VAR_002647	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844137C>T	UniProt
GCH1	P30793	p.Met211Ile	rs104894443	missense variant	-	NC_000014.9:g.54844137C>T	-
GCH1	P30793	p.Met211Ile	RCV000009870	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54844137C>T	ClinVar
GCH1	P30793	p.Met211Ter	RCV000255238	frameshift	-	NC_000014.9:g.54844138_54844139del	ClinVar
GCH1	P30793	p.Met211Val	VAR_016903	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Met213Val	rs1348562494	missense variant	-	NC_000014.9:g.54844133T>C	TOPMed
GCH1	P30793	p.Met213Val	rs1348562494	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844133T>C	UniProt,dbSNP
GCH1	P30793	p.Met213Val	VAR_016904	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844133T>C	UniProt
GCH1	P30793	p.Arg216Ter	rs41298440	stop gained	-	NC_000014.9:g.54844124G>A	gnomAD
GCH1	P30793	p.Val218Ile	rs1356427006	missense variant	-	NC_000014.9:g.54844118C>T	TOPMed
GCH1	P30793	p.Gln219Ter	rs1555358382	stop gained	-	NC_000014.9:g.54844115G>A	-
GCH1	P30793	p.Gln219His	rs1371565843	missense variant	-	NC_000014.9:g.54844113C>G	gnomAD
GCH1	P30793	p.Gln219Ter	RCV000626626	nonsense	-	NC_000014.9:g.54844115G>A	ClinVar
GCH1	P30793	p.Met221Thr	RCV000009863	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54844108A>G	ClinVar
GCH1	P30793	p.Met221Thr	rs104894434	missense variant	-	NC_000014.9:g.54844108A>G	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Met221Thr	rs104894434	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844108A>G	UniProt,dbSNP
GCH1	P30793	p.Met221Thr	VAR_016905	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844108A>G	UniProt
GCH1	P30793	p.Asn222Lys	rs773232145	missense variant	-	NC_000014.9:g.54844104G>C	ExAC,TOPMed,gnomAD
GCH1	P30793	p.Ser223Thr	rs1398975958	missense variant	-	NC_000014.9:g.54844102C>G	gnomAD
GCH1	P30793	p.Lys224Arg	RCV000009865	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844099T>C	ClinVar
GCH1	P30793	p.Lys224Arg	rs41298442	missense variant	-	NC_000014.9:g.54844099T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Lys224Thr	rs41298442	missense variant	-	NC_000014.9:g.54844099T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GCH1	P30793	p.Lys224Arg	rs41298442	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844099T>C	UniProt,dbSNP
GCH1	P30793	p.Lys224Arg	VAR_002648	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844099T>C	UniProt
GCH1	P30793	p.Lys224Arg	RCV000009866	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54844099T>C	ClinVar
GCH1	P30793	p.Val226Glu	rs776426317	missense variant	-	NC_000014.9:g.54844093A>T	ExAC,gnomAD
GCH1	P30793	p.Ser228Gly	rs1195837853	missense variant	-	NC_000014.9:g.54844088T>C	gnomAD
GCH1	P30793	p.Met230Leu	rs1311873158	missense variant	-	NC_000014.9:g.54844082T>G	gnomAD
GCH1	P30793	p.Phe234Ser	VAR_002649	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
GCH1	P30793	p.Arg235Gln	RCV000626048	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844066C>T	ClinVar
GCH1	P30793	p.Arg235Gln	rs1555358380	missense variant	-	NC_000014.9:g.54844066C>T	-
GCH1	P30793	p.Thr240Ser	rs1232746643	missense variant	-	NC_000014.9:g.54844052T>A	gnomAD
GCH1	P30793	p.Arg241Trp	rs1375209791	missense variant	-	NC_000014.9:g.54844049G>A	gnomAD
GCH1	P30793	p.Arg241Gln	rs775733967	missense variant	-	NC_000014.9:g.54844048C>T	ExAC,gnomAD
GCH1	P30793	p.Glu242Lys	rs1296731359	missense variant	-	NC_000014.9:g.54844046C>T	gnomAD
GCH1	P30793	p.Glu243Lys	rs772093408	missense variant	-	NC_000014.9:g.54844043C>T	ExAC
GCH1	P30793	p.Thr246Ile	rs989328098	missense variant	-	NC_000014.9:g.54844033G>A	TOPMed,gnomAD
GCH1	P30793	p.Arg249Ser	RCV000518763	missense variant	-	NC_000014.9:g.54844023C>G	ClinVar
GCH1	P30793	p.Arg249Ser	rs104894442	missense variant	-	NC_000014.9:g.54844023C>G	gnomAD
GCH1	P30793	p.Arg249Ser	rs104894442	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844023C>G	UniProt,dbSNP
GCH1	P30793	p.Arg249Ser	VAR_016907	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844023C>G	UniProt
GCH1	P30793	p.Arg249Lys	rs1468205954	missense variant	-	NC_000014.9:g.54844024C>T	TOPMed
GCH1	P30793	p.Ser250Cys	rs748132792	missense variant	-	NC_000014.9:g.54844022T>A	gnomAD
GCH1	P30793	p.Ser250Cys	RCV000517024	missense variant	-	NC_000014.9:g.54844022T>A	ClinVar
GCH1	P30793	p.Ter251Cys	RCV000550200	stop lost	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844017T>G	ClinVar
GCH1	P30793	p.Ter251Ser	RCV000517972	stop lost	-	NC_000014.9:g.54844018C>G	ClinVar
GCH1	P30793	p.Ter251Cys	rs1555358379	stop lost	-	NC_000014.9:g.54844017T>G	-
GCH1	P30793	p.Ter251Ser	rs201255606	stop lost	-	NC_000014.9:g.54844018C>G	1000Genomes
FGF9	P31371	p.Ala2Val	rs1254230677	missense variant	-	NC_000013.11:g.21671917C>T	gnomAD
FGF9	P31371	p.Pro3Ser	rs1480995733	missense variant	-	NC_000013.11:g.21671919C>T	TOPMed
FGF9	P31371	p.Glu6Asp	rs1162900422	missense variant	-	NC_000013.11:g.21671930A>T	gnomAD
FGF9	P31371	p.Val7Ala	rs1234728690	missense variant	-	NC_000013.11:g.21671932T>C	TOPMed
FGF9	P31371	p.Phe11Leu	COSM3417425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21671945C>A	NCI-TCGA Cosmic
FGF9	P31371	p.Val13Gly	rs182718810	missense variant	-	NC_000013.11:g.21671950T>G	1000Genomes,TOPMed,gnomAD
FGF9	P31371	p.Gln14Leu	rs1430778022	missense variant	-	NC_000013.11:g.21671953A>T	gnomAD
FGF9	P31371	p.Gln14His	rs145436564	missense variant	-	NC_000013.11:g.21671954G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF9	P31371	p.Gln14Arg	COSM4046471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21671953A>G	NCI-TCGA Cosmic
FGF9	P31371	p.Asp15Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21671955G>A	NCI-TCGA
FGF9	P31371	p.Asp15His	rs997306736	missense variant	-	NC_000013.11:g.21671955G>C	TOPMed
FGF9	P31371	p.Pro18Ser	rs774583506	missense variant	-	NC_000013.11:g.21671964C>T	ExAC,gnomAD
FGF9	P31371	p.Pro18Leu	rs1212322820	missense variant	-	NC_000013.11:g.21671965C>T	gnomAD
FGF9	P31371	p.Gly20Ala	rs767912297	missense variant	-	NC_000013.11:g.21671971G>C	ExAC,TOPMed,gnomAD
FGF9	P31371	p.Leu25Val	rs750656784	missense variant	-	NC_000013.11:g.21671985T>G	ExAC,gnomAD
FGF9	P31371	p.Leu25Phe	rs1277842781	missense variant	-	NC_000013.11:g.21671987G>C	gnomAD
FGF9	P31371	p.Pro26Ser	rs759293888	missense variant	-	NC_000013.11:g.21671988C>T	ExAC,gnomAD
FGF9	P31371	p.Val27Leu	rs1412420802	missense variant	-	NC_000013.11:g.21671991G>C	TOPMed
FGF9	P31371	p.Val27Ala	rs1187048373	missense variant	-	NC_000013.11:g.21671992T>C	gnomAD
FGF9	P31371	p.Asp28Asn	rs1238303573	missense variant	-	NC_000013.11:g.21671994G>A	gnomAD
FGF9	P31371	p.Ser29Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21671998G>A	NCI-TCGA
FGF9	P31371	p.Pro30Ser	rs576881958	missense variant	-	NC_000013.11:g.21672000C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF9	P31371	p.Val31GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.21672003_21672004insAGATA	NCI-TCGA
FGF9	P31371	p.Val31GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.21672001_21672002insA	NCI-TCGA
FGF9	P31371	p.Val31Leu	rs376187337	missense variant	-	NC_000013.11:g.21672003G>C	ESP,ExAC,TOPMed,gnomAD
FGF9	P31371	p.Leu32Phe	rs570227715	missense variant	-	NC_000013.11:g.21672008G>C	1000Genomes,ExAC,gnomAD
FGF9	P31371	p.Ser34Asn	rs1362488166	missense variant	-	NC_000013.11:g.21672013G>A	TOPMed
FGF9	P31371	p.Asp35Gly	rs1373965286	missense variant	-	NC_000013.11:g.21672016A>G	gnomAD
FGF9	P31371	p.Leu37Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21672021C>A	NCI-TCGA
FGF9	P31371	p.Gly38Arg	rs751136069	missense variant	-	NC_000013.11:g.21672024G>C	ExAC,gnomAD
FGF9	P31371	p.Gly38Ala	rs150678654	missense variant	-	NC_000013.11:g.21672025G>C	ESP
FGF9	P31371	p.Ser40Ala	rs756744215	missense variant	-	NC_000013.11:g.21672030T>G	ExAC,gnomAD
FGF9	P31371	p.Glu41Lys	COSM3671250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21672033G>A	NCI-TCGA Cosmic
FGF9	P31371	p.Ala42Gly	rs780871403	missense variant	-	NC_000013.11:g.21672037C>G	ExAC,gnomAD
FGF9	P31371	p.Leu45SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.21672039G>-	NCI-TCGA
FGF9	P31371	p.Leu45Phe	rs1301192320	missense variant	-	NC_000013.11:g.21672045C>T	TOPMed,gnomAD
FGF9	P31371	p.Gly48Arg	rs780484804	missense variant	-	NC_000013.11:g.21672054G>A	ExAC,gnomAD
FGF9	P31371	p.Ala50CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.21672059_21672060insT	NCI-TCGA
FGF9	P31371	p.Ala50Thr	rs1346570038	missense variant	-	NC_000013.11:g.21672060G>A	gnomAD
FGF9	P31371	p.Ala50Pro	COSM4826614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21672060G>C	NCI-TCGA Cosmic
FGF9	P31371	p.Val51Ile	rs774988398	missense variant	-	NC_000013.11:g.21672063G>A	ExAC,gnomAD
FGF9	P31371	p.Thr52Met	rs772251822	missense variant	-	NC_000013.11:g.21672067C>T	ExAC,gnomAD
FGF9	P31371	p.Thr52Pro	rs755561237	missense variant	-	NC_000013.11:g.21672066A>C	ExAC,TOPMed,gnomAD
FGF9	P31371	p.Thr52Ser	rs755561237	missense variant	-	NC_000013.11:g.21672066A>T	ExAC,TOPMed,gnomAD
FGF9	P31371	p.Leu54Phe	rs760974340	missense variant	-	NC_000013.11:g.21672074G>T	ExAC,gnomAD
FGF9	P31371	p.His56Asp	rs1213378667	missense variant	-	NC_000013.11:g.21672078C>G	TOPMed
FGF9	P31371	p.Leu61Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21672093C>T	NCI-TCGA
FGF9	P31371	p.Arg62Trp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21672096A>T	NCI-TCGA
FGF9	P31371	p.Arg62Gly	rs1555223925	missense variant	Multiple synostoses syndrome 3 (syns3)	NC_000013.11:g.21672096A>G	-
FGF9	P31371	p.Arg62Gly	RCV000513493	missense variant	Multiple synostoses syndrome 3 (SYNS3)	NC_000013.11:g.21672096A>G	ClinVar
FGF9	P31371	p.Arg63Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21672100G>A	NCI-TCGA
FGF9	P31371	p.Arg69Ser	rs762649405	missense variant	-	NC_000013.11:g.21672119G>C	ExAC,gnomAD
FGF9	P31371	p.Thr70Ser	rs1258794930	missense variant	-	NC_000013.11:g.21672121C>G	TOPMed
FGF9	P31371	p.Thr70Ala	COSM4046472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21672120A>G	NCI-TCGA Cosmic
FGF9	P31371	p.Leu74Ser	COSM4879051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21672133T>C	NCI-TCGA Cosmic
FGF9	P31371	p.Ile76Val	rs751475837	missense variant	-	NC_000013.11:g.21672138A>G	ExAC,gnomAD
FGF9	P31371	p.Pro78Ala	rs756799366	missense variant	-	NC_000013.11:g.21672144C>G	ExAC,gnomAD
FGF9	P31371	p.Pro78Leu	rs767042516	missense variant	-	NC_000013.11:g.21672145C>T	ExAC,gnomAD
FGF9	P31371	p.Asn79Asp	rs1226739190	missense variant	-	NC_000013.11:g.21672147A>G	gnomAD
FGF9	P31371	p.Asn79Ser	rs749883098	missense variant	-	NC_000013.11:g.21672148A>G	ExAC
FGF9	P31371	p.Gly80Ser	rs755802170	missense variant	-	NC_000013.11:g.21672150G>A	ExAC,gnomAD
FGF9	P31371	p.Gly80Asp	COSM4046473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21672151G>A	NCI-TCGA Cosmic
FGF9	P31371	p.Thr81Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21672154C>G	NCI-TCGA
FGF9	P31371	p.Ile82Val	COSM6138968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21672156A>G	NCI-TCGA Cosmic
FGF9	P31371	p.Gly84Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21672163G>A	NCI-TCGA
FGF9	P31371	p.Arg86Gly	rs1214948323	missense variant	-	NC_000013.11:g.21672168A>G	TOPMed
FGF9	P31371	p.Asp88Ala	rs749722061	missense variant	-	NC_000013.11:g.21672175A>C	ExAC,gnomAD
FGF9	P31371	p.Asp88His	rs779502534	missense variant	-	NC_000013.11:g.21672174G>C	ExAC
FGF9	P31371	p.His89Pro	rs755277615	missense variant	-	NC_000013.11:g.21672178A>C	ExAC,gnomAD
FGF9	P31371	p.His89Asn	rs1210713262	missense variant	-	NC_000013.11:g.21672177C>A	gnomAD
FGF9	P31371	p.Ser90Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21672181G>T	NCI-TCGA
FGF9	P31371	p.Arg91Gly	rs779607710	missense variant	-	NC_000013.11:g.21672183C>G	ExAC,gnomAD
FGF9	P31371	p.Gly93Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21681042G>A	NCI-TCGA
FGF9	P31371	p.Ile94Val	rs12427696	missense variant	-	NC_000013.11:g.21681044A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF9	P31371	p.Leu95Val	RCV000393748	missense variant	Symphalangism-brachydactyly syndrome (SYNS1)	NC_000013.11:g.21681047C>G	ClinVar
FGF9	P31371	p.Leu95Val	rs776951218	missense variant	-	NC_000013.11:g.21681047C>G	ExAC,TOPMed,gnomAD
FGF9	P31371	p.Glu96Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21681052A>C	NCI-TCGA
FGF9	P31371	p.Ser99Asn	rs121918322	missense variant	Multiple synostoses syndrome 3 (SYNS3)	NC_000013.11:g.21681060G>A	UniProt,dbSNP
FGF9	P31371	p.Ser99Asn	VAR_063254	missense variant	Multiple synostoses syndrome 3 (SYNS3)	NC_000013.11:g.21681060G>A	UniProt
FGF9	P31371	p.Ser99Asn	rs121918322	missense variant	Multiple synostoses syndrome 3 (syns3)	NC_000013.11:g.21681060G>A	-
FGF9	P31371	p.Ser99Asn	RCV000009242	missense variant	Multiple synostoses syndrome 3 (SYNS3)	NC_000013.11:g.21681060G>A	ClinVar
FGF9	P31371	p.Ile100Val	rs1308480939	missense variant	-	NC_000013.11:g.21681062A>G	gnomAD
FGF9	P31371	p.Ile100Met	rs1352104938	missense variant	-	NC_000013.11:g.21681064A>G	gnomAD
FGF9	P31371	p.Ala101Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21681065G>A	NCI-TCGA
FGF9	P31371	p.Ala101Glu	COSM6074453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21681066C>A	NCI-TCGA Cosmic
FGF9	P31371	p.Gly103Ser	COSM3467671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21681071G>A	NCI-TCGA Cosmic
FGF9	P31371	p.Leu104ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.21681072_21681073insA	NCI-TCGA
FGF9	P31371	p.Arg108Gln	rs753255725	missense variant	-	NC_000013.11:g.21681087G>A	gnomAD
FGF9	P31371	p.Arg108Ter	COSM275167	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.21681086C>T	NCI-TCGA Cosmic
FGF9	P31371	p.Val110Met	rs774141078	missense variant	-	NC_000013.11:g.21681092G>A	ExAC,gnomAD
FGF9	P31371	p.Gly113Glu	COSM3467672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21681102G>A	NCI-TCGA Cosmic
FGF9	P31371	p.Leu116Ile	rs1245671881	missense variant	-	NC_000013.11:g.21681110C>A	gnomAD
FGF9	P31371	p.Gly117Trp	COSM3467673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21681113G>T	NCI-TCGA Cosmic
FGF9	P31371	p.Lys121ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.21681125A>-	NCI-TCGA
FGF9	P31371	p.Leu124Met	rs773003683	missense variant	-	NC_000013.11:g.21681134C>A	ExAC,TOPMed,gnomAD
FGF9	P31371	p.Gly126Arg	rs765842747	missense variant	-	NC_000013.11:g.21681140G>C	ExAC,gnomAD
FGF9	P31371	p.Ser127Ala	rs1198320298	missense variant	-	NC_000013.11:g.21681143T>G	gnomAD
FGF9	P31371	p.Ser127Thr	COSM4878283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21681143T>A	NCI-TCGA Cosmic
FGF9	P31371	p.Glu128Lys	rs1189091971	missense variant	-	NC_000013.11:g.21701190G>A	gnomAD
FGF9	P31371	p.Lys129AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.21701191A>-	NCI-TCGA
FGF9	P31371	p.Leu130Pro	rs1391997109	missense variant	-	NC_000013.11:g.21701197T>C	gnomAD
FGF9	P31371	p.Leu130Ile	rs1379079857	missense variant	-	NC_000013.11:g.21701196C>A	TOPMed
FGF9	P31371	p.Gln132Glu	rs267603777	missense variant	-	NC_000013.11:g.21701202C>G	ExAC,TOPMed
FGF9	P31371	p.Gln132Ter	rs267603777	stop gained	-	NC_000013.11:g.21701202C>T	ExAC,TOPMed
FGF9	P31371	p.Glu133Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21701205G>C	NCI-TCGA
FGF9	P31371	p.Cys134Ser	rs200015821	missense variant	-	NC_000013.11:g.21701208T>A	ExAC,gnomAD
FGF9	P31371	p.Val135Ile	rs1466682170	missense variant	-	NC_000013.11:g.21701211G>A	gnomAD
FGF9	P31371	p.Phe136Leu	rs1338958021	missense variant	-	NC_000013.11:g.21701214T>C	gnomAD
FGF9	P31371	p.Phe136Leu	rs759113908	missense variant	-	NC_000013.11:g.21701216C>G	ExAC,gnomAD
FGF9	P31371	p.Arg137Ile	COSM945978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21701218G>T	NCI-TCGA Cosmic
FGF9	P31371	p.Phe140Leu	rs765041263	missense variant	-	NC_000013.11:g.21701228C>A	ExAC,TOPMed,gnomAD
FGF9	P31371	p.Glu141Lys	rs1010781871	missense variant	-	NC_000013.11:g.21701229G>A	TOPMed,gnomAD
FGF9	P31371	p.Glu142Ter	COSM3417426	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.21701232G>T	NCI-TCGA Cosmic
FGF9	P31371	p.Thr147Met	rs963305629	missense variant	-	NC_000013.11:g.21701248C>T	TOPMed
FGF9	P31371	p.Ser149Leu	rs751903634	missense variant	-	NC_000013.11:g.21701254C>T	ExAC,gnomAD
FGF9	P31371	p.Ser150Ter	COSM1322936	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.21701257C>A	NCI-TCGA Cosmic
FGF9	P31371	p.Leu152Val	rs750565955	missense variant	-	NC_000013.11:g.21701262C>G	ExAC,gnomAD
FGF9	P31371	p.His155Gln	rs143118647	missense variant	-	NC_000013.11:g.21701273C>G	ESP,ExAC,TOPMed,gnomAD
FGF9	P31371	p.Val156Leu	rs749546597	missense variant	-	NC_000013.11:g.21701274G>T	ExAC,gnomAD
FGF9	P31371	p.Thr158Ser	rs1208866316	missense variant	-	NC_000013.11:g.21701280A>T	gnomAD
FGF9	P31371	p.Gly159Arg	rs1249806783	missense variant	-	NC_000013.11:g.21701283G>A	gnomAD
FGF9	P31371	p.Arg161Pro	rs146697820	missense variant	-	NC_000013.11:g.21701290G>C	ESP,ExAC,TOPMed,gnomAD
FGF9	P31371	p.Arg161Gln	rs146697820	missense variant	-	NC_000013.11:g.21701290G>A	ESP,ExAC,TOPMed,gnomAD
FGF9	P31371	p.Arg161Ter	COSM469244	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.21701289C>T	NCI-TCGA Cosmic
FGF9	P31371	p.Asn167Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21701307A>G	NCI-TCGA
FGF9	P31371	p.Asn167Ser	rs746751637	missense variant	-	NC_000013.11:g.21701308A>G	ExAC,gnomAD
FGF9	P31371	p.Asn167Thr	rs746751637	missense variant	-	NC_000013.11:g.21701308A>C	ExAC,gnomAD
FGF9	P31371	p.Lys168Glu	rs1304374985	missense variant	-	NC_000013.11:g.21701310A>G	TOPMed
FGF9	P31371	p.Thr171Ser	rs1267713584	missense variant	-	NC_000013.11:g.21701320C>G	gnomAD
FGF9	P31371	p.Pro172Ser	rs776618974	missense variant	-	NC_000013.11:g.21701322C>T	ExAC,TOPMed,gnomAD
FGF9	P31371	p.Pro172Leu	rs371548027	missense variant	-	NC_000013.11:g.21701323C>T	ESP
FGF9	P31371	p.Glu174Lys	COSM1706514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21701328G>A	NCI-TCGA Cosmic
FGF9	P31371	p.Gly175Ala	rs1366332994	missense variant	-	NC_000013.11:g.21701332G>C	TOPMed
FGF9	P31371	p.Gly175Glu	COSM136929	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21701332G>A	NCI-TCGA Cosmic
FGF9	P31371	p.Arg180Gln	rs550814848	missense variant	-	NC_000013.11:g.21701347G>A	1000Genomes,ExAC,gnomAD
FGF9	P31371	p.Arg180Trp	rs763743837	missense variant	-	NC_000013.11:g.21701346C>T	ExAC,gnomAD
FGF9	P31371	p.His181Asn	rs1424759069	missense variant	-	NC_000013.11:g.21701349C>A	TOPMed
FGF9	P31371	p.Gln182His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21701354G>C	NCI-TCGA
FGF9	P31371	p.Gln182Arg	rs762229622	missense variant	-	NC_000013.11:g.21701353A>G	ExAC,gnomAD
FGF9	P31371	p.Phe184Leu	rs767964377	missense variant	-	NC_000013.11:g.21701360C>G	ExAC,TOPMed,gnomAD
FGF9	P31371	p.Phe187Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21701367T>C	NCI-TCGA
FGF9	P31371	p.Leu188TyrPheSerTerUnkUnk	COSM2265921	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.21701366T>-	NCI-TCGA Cosmic
FGF9	P31371	p.Asp195His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.21701391G>C	NCI-TCGA
FGF9	P31371	p.Asp195Asn	rs369272027	missense variant	-	NC_000013.11:g.21701391G>A	ESP,ExAC,TOPMed,gnomAD
FGF9	P31371	p.Asp195Gly	rs755164853	missense variant	-	NC_000013.11:g.21701392A>G	ExAC,gnomAD
FGF9	P31371	p.Asp195Tyr	rs369272027	missense variant	-	NC_000013.11:g.21701391G>T	ESP,ExAC,TOPMed,gnomAD
FGF9	P31371	p.Tyr201Cys	rs1357445252	missense variant	-	NC_000013.11:g.21701410A>G	TOPMed
FGF9	P31371	p.Asp203Ala	rs1220671836	missense variant	-	NC_000013.11:g.21701416A>C	gnomAD
FGF9	P31371	p.Ser206Gly	rs1489320468	missense variant	-	NC_000013.11:g.21701424A>G	gnomAD
FGF9	P31371	p.Gln207Arg	rs1283814283	missense variant	-	NC_000013.11:g.21701428A>G	TOPMed
FGF9	P31371	p.Ser208Arg	COSM4962730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.21701430A>C	NCI-TCGA Cosmic
SLC6A4	P31645	p.Glu2Asp	rs75808495	missense variant	-	NC_000017.11:g.30221953C>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr3Met	rs1338210090	missense variant	-	NC_000017.11:g.30221951G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Thr3Met	rs1338210090	missense variant	-	NC_000017.11:g.30221951G>A	NCI-TCGA
SLC6A4	P31645	p.Thr4Ala	rs765035150	missense variant	-	NC_000017.11:g.30221949T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr4Met	rs201688297	missense variant	-	NC_000017.11:g.30221948G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu6Ser	rs1406941594	missense variant	-	NC_000017.11:g.30221942A>G	gnomAD
SLC6A4	P31645	p.Ser8Tyr	COSM977275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221936G>T	NCI-TCGA Cosmic
SLC6A4	P31645	p.Gln9Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30221934G>C	NCI-TCGA
SLC6A4	P31645	p.Lys10Arg	rs762401531	missense variant	-	NC_000017.11:g.30221930T>C	ExAC,gnomAD
SLC6A4	P31645	p.Gln11Lys	rs922740757	missense variant	-	NC_000017.11:g.30221928G>T	TOPMed
SLC6A4	P31645	p.Ser13Leu	rs774252706	missense variant	-	NC_000017.11:g.30221921G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser13Leu	rs774252706	missense variant	-	NC_000017.11:g.30221921G>A	NCI-TCGA
SLC6A4	P31645	p.Ala14Glu	rs763069645	missense variant	-	NC_000017.11:g.30221918G>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala14Val	rs763069645	missense variant	-	NC_000017.11:g.30221918G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala14Val	RCV000400361	missense variant	Behavior disorder	NC_000017.11:g.30221918G>A	ClinVar
SLC6A4	P31645	p.Cys21Tyr	rs1452608078	missense variant	-	NC_000017.11:g.30221897C>T	gnomAD
SLC6A4	P31645	p.Gln22Pro	rs1457763470	missense variant	-	NC_000017.11:g.30221894T>G	TOPMed
SLC6A4	P31645	p.Glu23Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30221892C>T	NCI-TCGA
SLC6A4	P31645	p.Gly25Arg	rs199727635	missense variant	-	NC_000017.11:g.30221886C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly25Arg	rs199727635	missense variant	-	NC_000017.11:g.30221886C>T	NCI-TCGA,NCI-TCGA Cosmic
SLC6A4	P31645	p.Gly25Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30221885C>A	NCI-TCGA
SLC6A4	P31645	p.Val26Ala	rs375503605	missense variant	-	NC_000017.11:g.30221882A>G	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys29Met	rs1364333745	missense variant	-	NC_000017.11:g.30221873T>A	gnomAD
SLC6A4	P31645	p.Val31Phe	rs747721432	missense variant	-	NC_000017.11:g.30221868C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro32Ala	rs778707175	missense variant	-	NC_000017.11:g.30221865G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro32Ser	rs778707175	missense variant	-	NC_000017.11:g.30221865G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr33Ile	COSM3515714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221861G>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Pro34Ala	rs1331477421	missense variant	-	NC_000017.11:g.30221859G>C	gnomAD
SLC6A4	P31645	p.Gly35Arg	rs754684306	missense variant	-	NC_000017.11:g.30221856C>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly35Glu	rs372056901	missense variant	-	NC_000017.11:g.30221855C>T	ESP,ExAC,gnomAD
SLC6A4	P31645	p.Lys37Ile	rs1372689679	missense variant	-	NC_000017.11:g.30221849T>A	gnomAD
SLC6A4	P31645	p.Val38Met	rs1169264519	missense variant	-	NC_000017.11:g.30221847C>T	gnomAD
SLC6A4	P31645	p.Glu39Gln	rs757599379	missense variant	-	NC_000017.11:g.30221844C>G	ExAC,gnomAD
SLC6A4	P31645	p.Glu39Gly	rs752079357	missense variant	-	NC_000017.11:g.30221843T>C	ExAC,gnomAD
SLC6A4	P31645	p.Gly41Arg	rs140436169	missense variant	-	NC_000017.11:g.30221838C>G	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly41Arg	rs140436169	missense variant	-	NC_000017.11:g.30221838C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser44Pro	COSM705721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221829A>G	NCI-TCGA Cosmic
SLC6A4	P31645	p.Asn45Ser	rs200263321	missense variant	-	NC_000017.11:g.30221825T>C	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser48Leu	rs200339864	missense variant	-	NC_000017.11:g.30221816G>A	ExAC,gnomAD
SLC6A4	P31645	p.Val50Leu	rs202152288	missense variant	-	NC_000017.11:g.30221811C>G	TOPMed,gnomAD
SLC6A4	P31645	p.Ala55Val	rs746829911	missense variant	-	NC_000017.11:g.30221795G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala55Thr	rs770728789	missense variant	-	NC_000017.11:g.30221796C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala55Thr	rs770728789	missense variant	-	NC_000017.11:g.30221796C>T	NCI-TCGA,NCI-TCGA Cosmic
SLC6A4	P31645	p.Ala55Val	rs746829911	missense variant	-	NC_000017.11:g.30221795G>A	NCI-TCGA
SLC6A4	P31645	p.Gly56Ala	rs6355	missense variant	-	NC_000017.11:g.30221792C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp57His	rs747597376	missense variant	-	NC_000017.11:g.30221790C>G	ExAC,gnomAD
SLC6A4	P31645	p.Asp58Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30221787C>T	NCI-TCGA
SLC6A4	P31645	p.Arg60Trp	rs754635080	missense variant	-	NC_000017.11:g.30221781G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg60Gln	rs748936504	missense variant	-	NC_000017.11:g.30221780C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser62Cys	rs201041934	missense variant	-	NC_000017.11:g.30221774G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser62Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30221774G>A	NCI-TCGA
SLC6A4	P31645	p.Ile63Val	rs1362266683	missense variant	-	NC_000017.11:g.30221772T>C	gnomAD
SLC6A4	P31645	p.Ala65Glu	rs140484986	missense variant	-	NC_000017.11:g.30221765G>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala65Val	rs140484986	missense variant	-	NC_000017.11:g.30221765G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr66Ser	rs1171155787	missense variant	-	NC_000017.11:g.30221763T>A	TOPMed,gnomAD
SLC6A4	P31645	p.Thr67Ile	rs758918159	missense variant	-	NC_000017.11:g.30221759G>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr69Ala	rs1230700471	missense variant	-	NC_000017.11:g.30221754T>C	gnomAD
SLC6A4	P31645	p.Leu74Arg	COSM3819203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221738A>C	NCI-TCGA Cosmic
SLC6A4	P31645	p.Gln76His	rs1277908759	missense variant	-	NC_000017.11:g.30221731T>A	gnomAD
SLC6A4	P31645	p.Gln76Glu	rs1243133079	missense variant	-	NC_000017.11:g.30221733G>C	TOPMed
SLC6A4	P31645	p.Gln76Glu	rs1243133079	missense variant	-	NC_000017.11:g.30221733G>C	NCI-TCGA
SLC6A4	P31645	p.Arg79Trp	rs1221448303	missense variant	-	NC_000017.11:g.30221724G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Arg79Gln	rs760517433	missense variant	-	NC_000017.11:g.30221723C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg79Leu	rs760517433	missense variant	-	NC_000017.11:g.30221723C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg79Pro	rs760517433	missense variant	-	NC_000017.11:g.30221723C>G	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Glu80Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30221719C>A	NCI-TCGA
SLC6A4	P31645	p.Thr81Ala	rs1289152192	missense variant	-	NC_000017.11:g.30221718T>C	gnomAD
SLC6A4	P31645	p.Trp82Ter	COSM3889480	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.30221714C>T	NCI-TCGA Cosmic
SLC6A4	P31645	p.Trp82Arg	rs772080063	missense variant	-	NC_000017.11:g.30221715A>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly83Ser	rs1304639036	missense variant	-	NC_000017.11:g.30221712C>T	gnomAD
SLC6A4	P31645	p.Lys84Arg	rs774467106	missense variant	-	NC_000017.11:g.30221708T>C	ExAC,gnomAD
SLC6A4	P31645	p.Lys84Arg	rs774467106	missense variant	-	NC_000017.11:g.30221708T>C	NCI-TCGA,NCI-TCGA Cosmic
SLC6A4	P31645	p.Lys84Glu	rs748124693	missense variant	-	NC_000017.11:g.30221709T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys85Asn	rs1459089712	missense variant	-	NC_000017.11:g.30221704C>G	gnomAD
SLC6A4	P31645	p.Lys85Met	rs1332783171	missense variant	-	NC_000017.11:g.30221705T>A	gnomAD
SLC6A4	P31645	p.Asp87Tyr	rs1159379145	missense variant	-	NC_000017.11:g.30221700C>A	gnomAD
SLC6A4	P31645	p.Leu90Phe	rs1183088111	missense variant	-	NC_000017.11:g.30221691G>A	gnomAD
SLC6A4	P31645	p.Ser91Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30221687G>A	NCI-TCGA
SLC6A4	P31645	p.Ile93Leu	COSM1128772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30221682T>G	NCI-TCGA Cosmic
SLC6A4	P31645	p.Tyr95His	rs1483323164	missense variant	-	NC_000017.11:g.30221676A>G	gnomAD
SLC6A4	P31645	p.Gly100Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30221660C>A	NCI-TCGA
SLC6A4	P31645	p.Val102Ile	rs769335893	missense variant	-	NC_000017.11:g.30221655C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg104Cys	rs200953188	missense variant	-	NC_000017.11:g.30221649G>A	TOPMed
SLC6A4	P31645	p.Pro106Leu	rs1207932786	missense variant	-	NC_000017.11:g.30221642G>A	gnomAD
SLC6A4	P31645	p.Ile108Val	rs56316081	missense variant	-	NC_000017.11:g.30221637T>C	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile108Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30221636A>T	NCI-TCGA
SLC6A4	P31645	p.Gln111His	rs778131401	missense variant	-	NC_000017.11:g.30221626C>A	ExAC,gnomAD
SLC6A4	P31645	p.Asn112Ser	rs758865066	missense variant	-	NC_000017.11:g.30221624T>C	ExAC,gnomAD
SLC6A4	P31645	p.Gly115Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218931C>A	NCI-TCGA
SLC6A4	P31645	p.Ala116HisPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.30218929C>-	NCI-TCGA
SLC6A4	P31645	p.Leu118Phe	COSM436293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218923G>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Leu118Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218923G>T	NCI-TCGA
SLC6A4	P31645	p.Thr122Ile	rs1199374764	missense variant	-	NC_000017.11:g.30218910G>A	TOPMed
SLC6A4	P31645	p.Ile123Thr	rs542708308	missense variant	-	NC_000017.11:g.30218907A>G	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Met124Thr	rs779391253	missense variant	-	NC_000017.11:g.30218904A>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile126Ser	rs1435297805	missense variant	-	NC_000017.11:g.30218898A>C	TOPMed
SLC6A4	P31645	p.Ile126Val	rs755449138	missense variant	-	NC_000017.11:g.30218899T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Phe127Ser	rs780022333	missense variant	-	NC_000017.11:g.30218895A>G	ExAC,gnomAD
SLC6A4	P31645	p.Phe127Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218894A>C	NCI-TCGA
SLC6A4	P31645	p.Gly129Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218889C>T	NCI-TCGA
SLC6A4	P31645	p.Ile130Val	rs756254987	missense variant	-	NC_000017.11:g.30218887T>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile130Phe	rs756254987	missense variant	-	NC_000017.11:g.30218887T>A	ExAC,gnomAD
SLC6A4	P31645	p.Ile130Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218886A>C	NCI-TCGA
SLC6A4	P31645	p.Tyr134Phe	rs575214286	missense variant	-	NC_000017.11:g.30218874T>A	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Tyr134Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218875A>C	NCI-TCGA
SLC6A4	P31645	p.Met135Leu	rs1274463771	missense variant	-	NC_000017.11:g.30218872T>A	gnomAD
SLC6A4	P31645	p.Met135Thr	rs764034794	missense variant	-	NC_000017.11:g.30218871A>G	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Met135Val	rs1274463771	missense variant	-	NC_000017.11:g.30218872T>C	gnomAD
SLC6A4	P31645	p.Ala138Thr	rs201802369	missense variant	-	NC_000017.11:g.30218863C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly140Arg	COSM3969938	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218857C>T	NCI-TCGA Cosmic
SLC6A4	P31645	p.His143Tyr	rs769156350	missense variant	-	NC_000017.11:g.30218848G>A	ExAC,TOPMed
SLC6A4	P31645	p.His143Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218847T>C	NCI-TCGA
SLC6A4	P31645	p.Arg144Ter	rs759098089	stop gained	-	NC_000017.11:g.30218845G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg144Gln	rs147306146	missense variant	-	NC_000017.11:g.30218844C>T	NCI-TCGA,NCI-TCGA Cosmic
SLC6A4	P31645	p.Arg144Gln	rs147306146	missense variant	-	NC_000017.11:g.30218844C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn145Ser	rs770637680	missense variant	-	NC_000017.11:g.30218841T>C	ExAC,gnomAD
SLC6A4	P31645	p.Gly146Ter	COSM977274	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.30218839C>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Gly146Arg	COSM3515712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218839C>T	NCI-TCGA Cosmic
SLC6A4	P31645	p.Cys147Tyr	rs1294341765	missense variant	-	NC_000017.11:g.30218835C>T	TOPMed
SLC6A4	P31645	p.Ile148Val	rs1167206964	missense variant	-	NC_000017.11:g.30218833T>C	gnomAD
SLC6A4	P31645	p.Trp151Arg	rs774597104	missense variant	-	NC_000017.11:g.30218824A>T	ExAC,gnomAD
SLC6A4	P31645	p.Arg152Gly	rs769159876	missense variant	-	NC_000017.11:g.30218821T>C	ExAC,gnomAD
SLC6A4	P31645	p.Lys153Ter	rs1176511049	stop gained	-	NC_000017.11:g.30218818T>A	TOPMed,gnomAD
SLC6A4	P31645	p.Lys153Gln	rs1176511049	missense variant	-	NC_000017.11:g.30218818T>G	TOPMed,gnomAD
SLC6A4	P31645	p.Cys155Ser	rs749793113	missense variant	-	NC_000017.11:g.30218812A>T	ExAC,gnomAD
SLC6A4	P31645	p.Pro156Leu	rs201940331	missense variant	-	NC_000017.11:g.30218808G>A	TOPMed
SLC6A4	P31645	p.Ile157Val	rs145643221	missense variant	-	NC_000017.11:g.30218806T>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys159Glu	rs1264232560	missense variant	-	NC_000017.11:g.30218800T>C	TOPMed
SLC6A4	P31645	p.Ile161Thr	rs201833332	missense variant	-	NC_000017.11:g.30218334A>G	ExAC,gnomAD
SLC6A4	P31645	p.Ala164Gly	rs757512580	missense variant	-	NC_000017.11:g.30218325G>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile165Val	rs747167318	missense variant	-	NC_000017.11:g.30218323T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile165Thr	rs778107856	missense variant	-	NC_000017.11:g.30218322A>G	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Cys166Ser	rs1451855468	missense variant	-	NC_000017.11:g.30218319C>G	gnomAD
SLC6A4	P31645	p.Ile168Thr	rs562232343	missense variant	-	NC_000017.11:g.30218313A>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile172Phe	rs1448474106	missense variant	-	NC_000017.11:g.30218302T>A	TOPMed
SLC6A4	P31645	p.Ser174Phe	COSM3515711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218295G>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Tyr176Cys	rs1157064124	missense variant	-	NC_000017.11:g.30218289T>C	gnomAD
SLC6A4	P31645	p.Tyr176His	rs752604553	missense variant	-	NC_000017.11:g.30218290A>G	ExAC,gnomAD
SLC6A4	P31645	p.Asn177Thr	rs1459451195	missense variant	-	NC_000017.11:g.30218286T>G	gnomAD
SLC6A4	P31645	p.Thr178Ile	rs765019430	missense variant	-	NC_000017.11:g.30218283G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ile179Val	rs140206260	missense variant	-	NC_000017.11:g.30218281T>C	ESP
SLC6A4	P31645	p.Trp182Leu	rs754925524	missense variant	-	NC_000017.11:g.30218271C>A	ExAC,TOPMed
SLC6A4	P31645	p.Ala183Gly	rs201387005	missense variant	-	NC_000017.11:g.30218268G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Ala183Val	rs201387005	missense variant	-	NC_000017.11:g.30218268G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Tyr185His	rs1283036110	missense variant	-	NC_000017.11:g.30218263A>G	gnomAD
SLC6A4	P31645	p.Tyr185Cys	rs753300083	missense variant	-	NC_000017.11:g.30218262T>C	NCI-TCGA
SLC6A4	P31645	p.Tyr185Cys	rs753300083	missense variant	-	NC_000017.11:g.30218262T>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile188Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218252G>C	NCI-TCGA
SLC6A4	P31645	p.Ser189Phe	rs765907376	missense variant	-	NC_000017.11:g.30218250G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ser190Tyr	rs760222214	missense variant	-	NC_000017.11:g.30218247G>T	ExAC,gnomAD
SLC6A4	P31645	p.Thr192Ala	rs1390660090	missense variant	-	NC_000017.11:g.30218242T>C	TOPMed
SLC6A4	P31645	p.Thr192Met	rs144427337	missense variant	-	NC_000017.11:g.30218241G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp193Asn	rs55848249	missense variant	-	NC_000017.11:g.30218239C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gln194Arg	rs763156986	missense variant	-	NC_000017.11:g.30218235T>C	ExAC,gnomAD
SLC6A4	P31645	p.Trp197Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218225C>A	NCI-TCGA
SLC6A4	P31645	p.Lys201Asn	rs2228673	missense variant	-	NC_000017.11:g.30218213C>G	-
SLC6A4	P31645	p.Lys201Asn	rs2228673	missense variant	-	NC_000017.11:g.30218213C>G	UniProt,dbSNP
SLC6A4	P31645	p.Lys201Asn	VAR_029158	missense variant	-	NC_000017.11:g.30218213C>G	UniProt
SLC6A4	P31645	p.Gly207Asp	rs775933915	missense variant	-	NC_000017.11:g.30218196C>T	ExAC,gnomAD
SLC6A4	P31645	p.Gly207Ser	rs1325649419	missense variant	-	NC_000017.11:g.30218197C>T	gnomAD
SLC6A4	P31645	p.Asn208Ser	rs201518786	missense variant	-	NC_000017.11:g.30218193T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn208Asp	rs966629698	missense variant	-	NC_000017.11:g.30218194T>C	TOPMed
SLC6A4	P31645	p.Thr210Ser	rs1391771916	missense variant	-	NC_000017.11:g.30218187G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Thr210Asn	rs1391771916	missense variant	-	NC_000017.11:g.30218187G>T	TOPMed,gnomAD
SLC6A4	P31645	p.Asn211Ser	rs184149069	missense variant	-	NC_000017.11:g.30218184T>C	1000Genomes
SLC6A4	P31645	p.Asn211Thr	COSM3402715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218184T>G	NCI-TCGA Cosmic
SLC6A4	P31645	p.Glu215Ter	rs199504488	stop gained	-	NC_000017.11:g.30218173C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Glu215Lys	rs199504488	missense variant	-	NC_000017.11:g.30218173C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp216Glu	rs747173078	missense variant	-	NC_000017.11:g.30218168G>T	ExAC,gnomAD
SLC6A4	P31645	p.Asn217Ile	rs201506679	missense variant	-	NC_000017.11:g.30218166T>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn217Ser	rs201506679	missense variant	-	NC_000017.11:g.30218166T>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile218Thr	rs1240739803	missense variant	-	NC_000017.11:g.30218163A>G	gnomAD
SLC6A4	P31645	p.Thr221Ile	rs1201529504	missense variant	-	NC_000017.11:g.30218154G>A	gnomAD
SLC6A4	P31645	p.Leu222Phe	rs772343502	missense variant	-	NC_000017.11:g.30218152G>A	ExAC,gnomAD
SLC6A4	P31645	p.Leu222Pro	rs191881524	missense variant	-	NC_000017.11:g.30218151A>G	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Thr225Met	rs200486204	missense variant	-	NC_000017.11:g.30218142G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr225Lys	rs200486204	missense variant	-	NC_000017.11:g.30218142G>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser226Phe	COSM3515710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30218139G>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Pro227Ser	rs1229098377	missense variant	-	NC_000017.11:g.30218137G>A	gnomAD
SLC6A4	P31645	p.Ala228Asp	rs1249507811	missense variant	-	NC_000017.11:g.30218133G>T	TOPMed
SLC6A4	P31645	p.Ala228Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30218133G>A	NCI-TCGA
SLC6A4	P31645	p.Glu230Ter	COSM4065252	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.30218128C>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Thr233Met	rs755613830	missense variant	-	NC_000017.11:g.30218118G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234Leu	rs763898530	missense variant	-	NC_000017.11:g.30217302C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234Cys	rs751233939	missense variant	-	NC_000017.11:g.30217303G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234His	rs763898530	missense variant	-	NC_000017.11:g.30217302C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234Cys	rs751233939	missense variant	-	NC_000017.11:g.30217303G>A	NCI-TCGA,NCI-TCGA Cosmic
SLC6A4	P31645	p.His235Leu	rs200548683	missense variant	-	NC_000017.11:g.30217299T>A	TOPMed,gnomAD
SLC6A4	P31645	p.His235Tyr	rs755390416	missense variant	-	NC_000017.11:g.30217300G>A	ExAC,gnomAD
SLC6A4	P31645	p.Val236Ile	rs117750329	missense variant	-	NC_000017.11:g.30217297C>T	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Gln238Arg	rs1235060240	missense variant	-	NC_000017.11:g.30217290T>C	gnomAD
SLC6A4	P31645	p.Arg241Gln	rs142505940	missense variant	-	NC_000017.11:g.30217281C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg241Leu	rs142505940	missense variant	-	NC_000017.11:g.30217281C>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly244Trp	COSM705722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30217273C>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Leu245Phe	rs1201575822	missense variant	-	NC_000017.11:g.30217270G>A	gnomAD
SLC6A4	P31645	p.Gly250Asp	rs774549180	missense variant	-	NC_000017.11:g.30217254C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly250Val	rs774549180	missense variant	-	NC_000017.11:g.30217254C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly250Ser	rs761852274	missense variant	-	NC_000017.11:g.30217255C>T	ExAC,gnomAD
SLC6A4	P31645	p.Gly250Asp	rs774549180	missense variant	-	NC_000017.11:g.30217254C>T	NCI-TCGA,NCI-TCGA Cosmic
SLC6A4	P31645	p.Gly250AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.30217254C>-	NCI-TCGA
SLC6A4	P31645	p.Trp253Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.30217244C>T	NCI-TCGA
SLC6A4	P31645	p.Gln254Pro	rs768866921	missense variant	-	NC_000017.11:g.30217242T>G	ExAC,gnomAD
SLC6A4	P31645	p.Gln254His	rs1439280324	missense variant	-	NC_000017.11:g.30217241C>G	TOPMed
SLC6A4	P31645	p.Leu257Phe	rs987757017	missense variant	-	NC_000017.11:g.30217234G>A	gnomAD
SLC6A4	P31645	p.Leu257Ile	rs987757017	missense variant	-	NC_000017.11:g.30217234G>T	gnomAD
SLC6A4	P31645	p.Cys258Arg	rs1245951483	missense variant	-	NC_000017.11:g.30217231A>G	TOPMed
SLC6A4	P31645	p.Met260Val	rs1459205643	missense variant	-	NC_000017.11:g.30217225T>C	gnomAD
SLC6A4	P31645	p.Thr264Ser	rs769577662	missense variant	-	NC_000017.11:g.30217212G>C	ExAC,gnomAD
SLC6A4	P31645	p.Val265Ile	rs745784773	missense variant	-	NC_000017.11:g.30217210C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile266Val	rs142071015	missense variant	-	NC_000017.11:g.30217207T>C	1000Genomes,TOPMed,gnomAD
SLC6A4	P31645	p.Ile266Thr	rs199913287	missense variant	-	NC_000017.11:g.30217206A>G	gnomAD
SLC6A4	P31645	p.Ile270Val	rs1445134432	missense variant	-	NC_000017.11:g.30217195T>C	gnomAD
SLC6A4	P31645	p.Ile270Thr	rs74330808	missense variant	-	NC_000017.11:g.30217194A>G	ExAC,gnomAD
SLC6A4	P31645	p.Val274Ile	rs746585288	missense variant	-	NC_000017.11:g.30217183C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val274Ile	rs746585288	missense variant	-	NC_000017.11:g.30217183C>T	NCI-TCGA
SLC6A4	P31645	p.Lys275Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30217178C>A	NCI-TCGA
SLC6A4	P31645	p.Thr276Ala	rs1261466208	missense variant	-	NC_000017.11:g.30217177T>C	gnomAD
SLC6A4	P31645	p.Ser277Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30217173G>T	NCI-TCGA
SLC6A4	P31645	p.Lys279Arg	rs773747465	missense variant	-	NC_000017.11:g.30217167T>C	ExAC,gnomAD
SLC6A4	P31645	p.Val280Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30216215A>G	NCI-TCGA
SLC6A4	P31645	p.Val280Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30216216C>T	NCI-TCGA
SLC6A4	P31645	p.Trp282Ser	rs200435184	missense variant	-	NC_000017.11:g.30216209C>G	TOPMed
SLC6A4	P31645	p.Trp282Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30216209C>A	NCI-TCGA
SLC6A4	P31645	p.Val283Leu	rs138004662	missense variant	-	NC_000017.11:g.30216207C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val283Leu	RCV000344225	missense variant	Behavior disorder	NC_000017.11:g.30216207C>A	ClinVar
SLC6A4	P31645	p.Ala285Thr	COSM705724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30216201C>T	NCI-TCGA Cosmic
SLC6A4	P31645	p.Ala285Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30216200G>T	NCI-TCGA
SLC6A4	P31645	p.Ile290Val	rs776627175	missense variant	-	NC_000017.11:g.30216186T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile291Val	rs1359413899	missense variant	-	NC_000017.11:g.30216183T>C	gnomAD
SLC6A4	P31645	p.Leu292Ile	rs770779030	missense variant	-	NC_000017.11:g.30216180G>T	ExAC,gnomAD
SLC6A4	P31645	p.Ser293Phe	rs199909202	missense variant	-	NC_000017.11:g.30216176G>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser293Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30216176G>T	NCI-TCGA
SLC6A4	P31645	p.Ser293Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30216176G>C	NCI-TCGA
SLC6A4	P31645	p.Pro303His	rs200924626	missense variant	-	NC_000017.11:g.30216146G>T	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Pro303Arg	rs200924626	missense variant	-	NC_000017.11:g.30216146G>C	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Pro303Leu	COSM3515705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30216146G>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Phe311Leu	rs1020956488	missense variant	-	NC_000017.11:g.30216121G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Leu313Ser	COSM977273	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30216116A>G	NCI-TCGA Cosmic
SLC6A4	P31645	p.Pro315Leu	rs1427445327	missense variant	-	NC_000017.11:g.30216110G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Asn316Ser	rs200977199	missense variant	-	NC_000017.11:g.30216107T>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Trp317Cys	rs1207431394	missense variant	-	NC_000017.11:g.30216103C>A	gnomAD
SLC6A4	P31645	p.Val325Met	rs1306137038	missense variant	-	NC_000017.11:g.30215714C>T	gnomAD
SLC6A4	P31645	p.Ile327Thr	rs1225691529	missense variant	-	NC_000017.11:g.30215707A>G	TOPMed
SLC6A4	P31645	p.Ala330Gly	rs1023963762	missense variant	-	NC_000017.11:g.30215698G>C	TOPMed
SLC6A4	P31645	p.Ala331Ser	rs201425535	missense variant	-	NC_000017.11:g.30215696C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala331Thr	rs201425535	missense variant	-	NC_000017.11:g.30215696C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gln332Pro	rs1469154080	missense variant	-	NC_000017.11:g.30215692T>G	gnomAD
SLC6A4	P31645	p.Gln332His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30215691C>A	NCI-TCGA
SLC6A4	P31645	p.Phe341Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30215666A>C	NCI-TCGA
SLC6A4	P31645	p.Gly342Glu	rs199876253	missense variant	-	NC_000017.11:g.30215662C>T	gnomAD
SLC6A4	P31645	p.Leu344Pro	COSM4065251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30215656A>G	NCI-TCGA Cosmic
SLC6A4	P31645	p.Ser349GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.30215642_30215643insG	NCI-TCGA
SLC6A4	P31645	p.Asn351Ser	rs201688096	missense variant	-	NC_000017.11:g.30215635T>C	ExAC,gnomAD
SLC6A4	P31645	p.Phe353Leu	rs1260947474	missense variant	-	NC_000017.11:g.30215630A>G	TOPMed
SLC6A4	P31645	p.Asn354Ser	rs1426735582	missense variant	-	NC_000017.11:g.30215626T>C	TOPMed
SLC6A4	P31645	p.Asn355Ser	rs766248228	missense variant	-	NC_000017.11:g.30215623T>C	ExAC,gnomAD
SLC6A4	P31645	p.Asn356Ser	rs775339451	missense variant	-	NC_000017.11:g.30215620T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Asn356Asp	rs1313057058	missense variant	-	NC_000017.11:g.30215621T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Ala361Val	rs1316520384	missense variant	-	NC_000017.11:g.30212862G>A	gnomAD
SLC6A4	P31645	p.Ala361PheValLysIleTer	NCI-TCGA novel	stop gained	-	NC_000017.11:g.30212860_30212861insTTAGATCTTTACAAA	NCI-TCGA
SLC6A4	P31645	p.Leu362Met	rs755973197	missense variant	-	NC_000017.11:g.30212860G>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val363Ala	rs371274847	missense variant	-	NC_000017.11:g.30212856A>G	ESP,TOPMed,gnomAD
SLC6A4	P31645	p.Val363Leu	rs767509248	missense variant	-	NC_000017.11:g.30212857C>G	ExAC,gnomAD
SLC6A4	P31645	p.Ser365Arg	rs140377388	missense variant	-	NC_000017.11:g.30212849G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser365Asn	rs1422350691	missense variant	-	NC_000017.11:g.30212850C>T	gnomAD
SLC6A4	P31645	p.Val366Met	rs774382857	missense variant	-	NC_000017.11:g.30212848C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val367Met	rs1372075335	missense variant	-	NC_000017.11:g.30212845C>T	gnomAD
SLC6A4	P31645	p.Cys369Tyr	rs763486810	missense variant	-	NC_000017.11:g.30212838C>T	ExAC,gnomAD
SLC6A4	P31645	p.Met370Thr	rs1240463629	missense variant	-	NC_000017.11:g.30212835A>G	TOPMed
SLC6A4	P31645	p.Thr371Met	rs1268954204	missense variant	-	NC_000017.11:g.30212832G>A	gnomAD
SLC6A4	P31645	p.Thr371Ser	rs1481104171	missense variant	-	NC_000017.11:g.30212833T>A	gnomAD
SLC6A4	P31645	p.Thr371Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30212832G>C	NCI-TCGA
SLC6A4	P31645	p.Ser372Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30212830T>C	NCI-TCGA
SLC6A4	P31645	p.Val374Ile	rs769439481	missense variant	-	NC_000017.11:g.30212824C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser375Leu	rs1196104137	missense variant	-	NC_000017.11:g.30212820G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Val378Ala	rs1268585061	missense variant	-	NC_000017.11:g.30212811A>G	gnomAD
SLC6A4	P31645	p.Ile379Val	COSM977272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30212809T>C	NCI-TCGA Cosmic
SLC6A4	P31645	p.Phe380Cys	rs1225554343	missense variant	-	NC_000017.11:g.30212805A>C	gnomAD
SLC6A4	P31645	p.Gly384Ser	COSM977271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30212794C>T	NCI-TCGA Cosmic
SLC6A4	P31645	p.Ala387Thr	COSM3819202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30212785C>T	NCI-TCGA Cosmic
SLC6A4	P31645	p.Met389Ile	rs199886280	missense variant	-	NC_000017.11:g.30212777C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Met389Leu	rs200983126	missense variant	-	NC_000017.11:g.30212779T>A	gnomAD
SLC6A4	P31645	p.Met389Val	rs200983126	missense variant	-	NC_000017.11:g.30212779T>C	gnomAD
SLC6A4	P31645	p.Asp400Asn	rs779526325	missense variant	-	NC_000017.11:g.30212746C>T	ExAC,gnomAD
SLC6A4	P31645	p.Asp400Glu	rs148279474	missense variant	-	NC_000017.11:g.30212744G>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala401Ser	rs374583307	missense variant	-	NC_000017.11:g.30212743C>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala401Thr	rs374583307	missense variant	-	NC_000017.11:g.30212743C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro403Leu	rs954957737	missense variant	-	NC_000017.11:g.30211421G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Pro403Arg	rs954957737	missense variant	-	NC_000017.11:g.30211421G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Ile408Thr	rs1317796205	missense variant	-	NC_000017.11:g.30211406A>G	gnomAD
SLC6A4	P31645	p.Thr409Met	rs1453755229	missense variant	-	NC_000017.11:g.30211403G>A	gnomAD
SLC6A4	P31645	p.Ala413Val	rs781619709	missense variant	-	NC_000017.11:g.30211391G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala413Thr	rs759854385	missense variant	-	NC_000017.11:g.30211392C>T	-
SLC6A4	P31645	p.Ile414Val	rs1346661301	missense variant	-	NC_000017.11:g.30211389T>C	gnomAD
SLC6A4	P31645	p.Ala419Val	rs143632225	missense variant	-	NC_000017.11:g.30211373G>A	ESP,TOPMed,gnomAD
SLC6A4	P31645	p.Ala419Gly	rs143632225	missense variant	-	NC_000017.11:g.30211373G>C	ESP,TOPMed,gnomAD
SLC6A4	P31645	p.Thr421Ala	rs777513509	missense variant	-	NC_000017.11:g.30211368T>C	ExAC,gnomAD
SLC6A4	P31645	p.Thr421Ile	rs199873504	missense variant	-	NC_000017.11:g.30211367G>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr421Ile	rs199873504	missense variant	-	NC_000017.11:g.30211367G>A	NCI-TCGA
SLC6A4	P31645	p.Phe422Ser	rs752163355	missense variant	-	NC_000017.11:g.30211364A>G	ExAC
SLC6A4	P31645	p.Phe422Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30211363G>T	NCI-TCGA
SLC6A4	P31645	p.Ala424Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30211358G>A	NCI-TCGA
SLC6A4	P31645	p.Ile425Val	rs28914832	missense variant	-	NC_000017.11:g.30211356T>C	UniProt,dbSNP
SLC6A4	P31645	p.Ile425Val	VAR_026751	missense variant	-	NC_000017.11:g.30211356T>C	UniProt
SLC6A4	P31645	p.Ile425Val	rs28914832	missense variant	-	NC_000017.11:g.30211356T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile425Leu	rs28914832	missense variant	-	NC_000017.11:g.30211356T>G	UniProt,dbSNP
SLC6A4	P31645	p.Ile425Leu	VAR_036788	missense variant	-	NC_000017.11:g.30211356T>G	UniProt
SLC6A4	P31645	p.Ile425Leu	rs28914832	missense variant	-	NC_000017.11:g.30211356T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile425Val	rs28914832	missense variant	-	NC_000017.11:g.30211356T>C	NCI-TCGA
SLC6A4	P31645	p.Ile425Val	RCV000013798	missense variant	Obsessive-compulsive disorder, susceptibility to	NC_000017.11:g.30211356T>C	ClinVar
SLC6A4	P31645	p.Phe427Ser	rs1409472269	missense variant	-	NC_000017.11:g.30211349A>G	TOPMed
SLC6A4	P31645	p.Phe428Leu	rs1368601938	missense variant	-	NC_000017.11:g.30211347A>G	gnomAD
SLC6A4	P31645	p.Leu429Pro	rs1286741075	missense variant	-	NC_000017.11:g.30211343A>G	TOPMed
SLC6A4	P31645	p.Thr433Met	rs145732192	missense variant	-	NC_000017.11:g.30211331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr433Met	rs145732192	missense variant	-	NC_000017.11:g.30211331G>A	NCI-TCGA
SLC6A4	P31645	p.Leu434Gln	rs1215090146	missense variant	-	NC_000017.11:g.30211328A>T	gnomAD
SLC6A4	P31645	p.Leu436Ser	rs762020242	missense variant	-	NC_000017.11:g.30211322A>G	ExAC,gnomAD
SLC6A4	P31645	p.Thr439Met	rs774795329	missense variant	-	NC_000017.11:g.30211313G>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr439Met	rs774795329	missense variant	-	NC_000017.11:g.30211313G>A	NCI-TCGA,NCI-TCGA Cosmic
SLC6A4	P31645	p.Phe440Leu	rs760402602	missense variant	-	NC_000017.11:g.30210646A>G	ExAC,gnomAD
SLC6A4	P31645	p.Glu444Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30210634C>G	NCI-TCGA
SLC6A4	P31645	p.Gly445Trp	rs1308476920	missense variant	-	NC_000017.11:g.30210631C>A	gnomAD
SLC6A4	P31645	p.Val446Leu	rs888825054	missense variant	-	NC_000017.11:g.30210628C>A	TOPMed
SLC6A4	P31645	p.Thr448Met	rs750079448	missense variant	-	NC_000017.11:g.30210621G>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr448Ala	rs1217609157	missense variant	-	NC_000017.11:g.30210622T>C	gnomAD
SLC6A4	P31645	p.Ala449Gly	rs199890537	missense variant	-	NC_000017.11:g.30210618G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu451Met	rs1022398842	missense variant	-	NC_000017.11:g.30210613G>T	TOPMed
SLC6A4	P31645	p.Asp452Asn	rs1291723960	missense variant	-	NC_000017.11:g.30210610C>T	gnomAD
SLC6A4	P31645	p.Asp452Asn	rs1291723960	missense variant	-	NC_000017.11:g.30210610C>T	NCI-TCGA
SLC6A4	P31645	p.Pro455Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30210601G>T	NCI-TCGA
SLC6A4	P31645	p.His456Tyr	rs1250876597	missense variant	-	NC_000017.11:g.30210598G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Val457Ile	rs190758123	missense variant	-	NC_000017.11:g.30210595C>T	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val457Leu	rs190758123	missense variant	-	NC_000017.11:g.30210595C>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val457Ile	rs190758123	missense variant	-	NC_000017.11:g.30210595C>T	NCI-TCGA,NCI-TCGA Cosmic
SLC6A4	P31645	p.Ala459Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30210588G>A	NCI-TCGA
SLC6A4	P31645	p.Arg461His	rs1480151829	missense variant	-	NC_000017.11:g.30210582C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Arg461Cys	rs773355828	missense variant	-	NC_000017.11:g.30210583G>A	ExAC,gnomAD
SLC6A4	P31645	p.Arg461Leu	rs1480151829	missense variant	-	NC_000017.11:g.30210582C>A	TOPMed,gnomAD
SLC6A4	P31645	p.Arg462Trp	rs771843360	missense variant	-	NC_000017.11:g.30210580G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg462Gln	rs748005133	missense variant	-	NC_000017.11:g.30210579C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg462Trp	rs771843360	missense variant	-	NC_000017.11:g.30210580G>A	NCI-TCGA,NCI-TCGA Cosmic
SLC6A4	P31645	p.Glu463Gly	COSM4065246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30210576T>C	NCI-TCGA Cosmic
SLC6A4	P31645	p.Arg464Gln	rs200180716	missense variant	-	NC_000017.11:g.30210573C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg464Trp	rs201228840	missense variant	-	NC_000017.11:g.30210574G>A	ExAC,gnomAD
SLC6A4	P31645	p.Phe465Leu	rs28914833	missense variant	-	NC_000017.11:g.30210571A>G	UniProt,dbSNP
SLC6A4	P31645	p.Phe465Leu	VAR_036789	missense variant	-	NC_000017.11:g.30210571A>G	UniProt
SLC6A4	P31645	p.Phe465Leu	rs28914833	missense variant	-	NC_000017.11:g.30210571A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val466Met	rs767140114	missense variant	-	NC_000017.11:g.30210568C>T	ExAC,gnomAD
SLC6A4	P31645	p.Val466Leu	rs767140114	missense variant	-	NC_000017.11:g.30210568C>A	ExAC,gnomAD
SLC6A4	P31645	p.Val466Leu	rs767140114	missense variant	-	NC_000017.11:g.30210568C>G	ExAC,gnomAD
SLC6A4	P31645	p.Ala468Pro	rs753124472	missense variant	-	NC_000017.11:g.30210562C>G	ExAC,gnomAD
SLC6A4	P31645	p.Ala468Thr	rs753124472	missense variant	-	NC_000017.11:g.30210562C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala468Thr	rs753124472	missense variant	-	NC_000017.11:g.30210562C>T	NCI-TCGA
SLC6A4	P31645	p.Ala468Val	COSM3515703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30210561G>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Ala468Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30210562C>A	NCI-TCGA
SLC6A4	P31645	p.Val469Met	rs760161891	missense variant	-	NC_000017.11:g.30210559C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val469Met	rs760161891	missense variant	-	NC_000017.11:g.30210559C>T	NCI-TCGA
SLC6A4	P31645	p.Thr472Ser	rs777035735	missense variant	-	NC_000017.11:g.30210549G>C	ExAC,gnomAD
SLC6A4	P31645	p.Thr472Ile	rs777035735	missense variant	-	NC_000017.11:g.30210549G>A	ExAC,gnomAD
SLC6A4	P31645	p.Cys473Ser	rs766432633	missense variant	-	NC_000017.11:g.30210546C>G	ExAC,gnomAD
SLC6A4	P31645	p.Cys473Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30210546C>A	NCI-TCGA
SLC6A4	P31645	p.Phe474Leu	rs565310860	missense variant	-	NC_000017.11:g.30210544A>G	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Phe474Leu	COSM285131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30210542G>T	NCI-TCGA Cosmic
SLC6A4	P31645	p.Ser477Phe	COSM4905361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30210534G>A	NCI-TCGA Cosmic
SLC6A4	P31645	p.Val479Ile	rs1408481123	missense variant	-	NC_000017.11:g.30210529C>T	gnomAD
SLC6A4	P31645	p.Thr480Ile	rs772344525	missense variant	-	NC_000017.11:g.30210525G>A	ExAC,gnomAD
SLC6A4	P31645	p.Leu481Val	rs747922477	missense variant	-	NC_000017.11:g.30210523G>C	ExAC,gnomAD
SLC6A4	P31645	p.Thr482Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30210520T>C	NCI-TCGA
SLC6A4	P31645	p.Gly485Glu	rs1441466151	missense variant	-	NC_000017.11:g.30209238C>T	gnomAD
SLC6A4	P31645	p.Ala486Thr	rs1253653499	missense variant	-	NC_000017.11:g.30209236C>T	gnomAD
SLC6A4	P31645	p.Val488Met	rs55908511	missense variant	-	NC_000017.11:g.30209230C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys490Glu	COSM1324081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30209224T>C	NCI-TCGA Cosmic
SLC6A4	P31645	p.Leu492Pro	rs1361567634	missense variant	-	NC_000017.11:g.30209217A>G	gnomAD
SLC6A4	P31645	p.Glu494Asp	rs200510224	missense variant	-	NC_000017.11:g.30209210C>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Glu494Asp	rs200510224	missense variant	-	NC_000017.11:g.30209210C>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala496Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30209205G>A	NCI-TCGA
SLC6A4	P31645	p.Thr497Ala	rs202166264	missense variant	-	NC_000017.11:g.30209203T>C	TOPMed
SLC6A4	P31645	p.Thr497Met	rs770596399	missense variant	-	NC_000017.11:g.30209202G>A	ExAC,gnomAD
SLC6A4	P31645	p.Gly498Ala	rs1360012953	missense variant	-	NC_000017.11:g.30209199C>G	gnomAD
SLC6A4	P31645	p.Ala500Thr	rs1366793189	missense variant	-	NC_000017.11:g.30209194C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Val501Ala	rs1162971941	missense variant	-	NC_000017.11:g.30209190A>G	gnomAD
SLC6A4	P31645	p.Val501Gly	rs1162971941	missense variant	-	NC_000017.11:g.30209190A>C	gnomAD
SLC6A4	P31645	p.Ala505Val	rs200080084	missense variant	-	NC_000017.11:g.30209178G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala505Thr	rs1384899793	missense variant	-	NC_000017.11:g.30209179C>T	TOPMed
SLC6A4	P31645	p.Glu508Lys	rs750467787	missense variant	-	NC_000017.11:g.30209170C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala511Ser	rs764370121	missense variant	-	NC_000017.11:g.30209161C>A	ExAC,gnomAD
SLC6A4	P31645	p.Ala511Thr	rs764370121	missense variant	-	NC_000017.11:g.30209161C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala511Val	rs1178171471	missense variant	-	NC_000017.11:g.30209160G>A	TOPMed
SLC6A4	P31645	p.Val512Met	rs1354019846	missense variant	-	NC_000017.11:g.30209158C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Ser513Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30209154G>C	NCI-TCGA
SLC6A4	P31645	p.Trp514Cys	rs775200271	missense variant	-	NC_000017.11:g.30209150C>A	ExAC,gnomAD
SLC6A4	P31645	p.Phe515Leu	rs759353073	missense variant	-	NC_000017.11:g.30209147G>T	ExAC,gnomAD
SLC6A4	P31645	p.Phe515Leu	rs759353073	missense variant	-	NC_000017.11:g.30209147G>C	ExAC,gnomAD
SLC6A4	P31645	p.Phe515Val	rs956267339	missense variant	-	NC_000017.11:g.30209149A>C	TOPMed
SLC6A4	P31645	p.Tyr516Cys	rs1340180605	missense variant	-	NC_000017.11:g.30209145T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Thr519Ala	rs776642079	missense variant	-	NC_000017.11:g.30207827T>C	ExAC,gnomAD
SLC6A4	P31645	p.Thr519Ser	rs776642079	missense variant	-	NC_000017.11:g.30207827T>A	ExAC,gnomAD
SLC6A4	P31645	p.Cys522Arg	rs766490168	missense variant	-	NC_000017.11:g.30207818A>G	ExAC,gnomAD
SLC6A4	P31645	p.Arg523Lys	rs1446514460	missense variant	-	NC_000017.11:g.30207814C>T	gnomAD
SLC6A4	P31645	p.Val525Met	rs772894432	missense variant	-	NC_000017.11:g.30207809C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val525Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30207808A>T	NCI-TCGA
SLC6A4	P31645	p.Leu529Phe	rs544236344	missense variant	-	NC_000017.11:g.30207797G>A	1000Genomes
SLC6A4	P31645	p.Leu529Pro	rs747712449	missense variant	-	NC_000017.11:g.30207796A>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly530Ser	rs374144565	missense variant	-	NC_000017.11:g.30207794C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Phe531Leu	rs1234594653	missense variant	-	NC_000017.11:g.30207791A>G	gnomAD
SLC6A4	P31645	p.Ser532Ile	rs781657921	missense variant	-	NC_000017.11:g.30207787C>A	ExAC,gnomAD
SLC6A4	P31645	p.Pro533Leu	rs201114547	missense variant	-	NC_000017.11:g.30207784G>A	ExAC,gnomAD
SLC6A4	P31645	p.Trp535Leu	rs777676943	missense variant	-	NC_000017.11:g.30207778C>A	ExAC,TOPMed
SLC6A4	P31645	p.Trp535Ter	rs777676943	stop gained	-	NC_000017.11:g.30207778C>T	ExAC,TOPMed
SLC6A4	P31645	p.Trp537Ter	rs1443264804	stop gained	-	NC_000017.11:g.30207772C>T	gnomAD
SLC6A4	P31645	p.Trp537Arg	COSM4923532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30207773A>T	NCI-TCGA Cosmic
SLC6A4	P31645	p.Ile539Ser	rs1335591070	missense variant	-	NC_000017.11:g.30207766A>C	TOPMed
SLC6A4	P31645	p.Ile539Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30207766A>T	NCI-TCGA
SLC6A4	P31645	p.Cys540Ter	rs907584878	stop gained	-	NC_000017.11:g.30207762G>T	gnomAD
SLC6A4	P31645	p.Cys540Tyr	rs558916313	missense variant	-	NC_000017.11:g.30207763C>T	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Trp541Ter	rs752804456	stop gained	-	NC_000017.11:g.30207759C>T	ExAC
SLC6A4	P31645	p.Val542Met	rs765500675	missense variant	-	NC_000017.11:g.30207758C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala543Thr	rs754815105	missense variant	-	NC_000017.11:g.30207755C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile544Val	rs753742568	missense variant	-	NC_000017.11:g.30207752T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile544Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30207751A>G	NCI-TCGA
SLC6A4	P31645	p.Ser545Cys	rs753232412	missense variant	-	NC_000017.11:g.30207749T>A	gnomAD
SLC6A4	P31645	p.Pro546Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30207745G>C	NCI-TCGA
SLC6A4	P31645	p.Phe548Leu	rs1350322936	missense variant	-	NC_000017.11:g.30207740A>G	gnomAD
SLC6A4	P31645	p.Leu550Val	rs28914834	missense variant	-	NC_000017.11:g.30207734G>C	UniProt,dbSNP
SLC6A4	P31645	p.Leu550Val	VAR_036790	missense variant	-	NC_000017.11:g.30207734G>C	UniProt
SLC6A4	P31645	p.Leu550Val	rs28914834	missense variant	-	NC_000017.11:g.30207734G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser555Gly	rs1180368034	missense variant	-	NC_000017.11:g.30203327T>C	gnomAD
SLC6A4	P31645	p.Ser555Thr	rs763707645	missense variant	-	NC_000017.11:g.30203326C>G	ExAC
SLC6A4	P31645	p.Leu557Pro	COSM977268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.30203320A>G	NCI-TCGA Cosmic
SLC6A4	P31645	p.Met558Arg	rs762554912	missense variant	-	NC_000017.11:g.30203317A>C	ExAC,TOPMed
SLC6A4	P31645	p.Ser559Arg	rs771228274	missense variant	-	NC_000017.11:g.30203313G>T	ExAC,gnomAD
SLC6A4	P31645	p.Pro560Leu	rs1263969034	missense variant	-	NC_000017.11:g.30203311G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Pro561Ser	rs773586674	missense variant	-	NC_000017.11:g.30203309G>A	ExAC,gnomAD
SLC6A4	P31645	p.Gln562Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.30203306G>A	NCI-TCGA
SLC6A4	P31645	p.Arg564Gln	rs200740988	missense variant	-	NC_000017.11:g.30203299C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg564Ter	rs1222693893	stop gained	-	NC_000017.11:g.30203300G>A	gnomAD
SLC6A4	P31645	p.Tyr568His	rs779088918	missense variant	-	NC_000017.11:g.30203288A>G	ExAC,gnomAD
SLC6A4	P31645	p.Tyr570Phe	rs1342054504	missense variant	-	NC_000017.11:g.30203281T>A	gnomAD
SLC6A4	P31645	p.Tyr570Asn	rs768885008	missense variant	-	NC_000017.11:g.30203282A>T	ExAC
SLC6A4	P31645	p.Pro571Arg	rs1278275096	missense variant	-	NC_000017.11:g.30203278G>C	gnomAD
SLC6A4	P31645	p.Trp573Gly	rs749470382	missense variant	-	NC_000017.11:g.30203273A>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile576Val	rs199832478	missense variant	-	NC_000017.11:g.30203264T>C	gnomAD
SLC6A4	P31645	p.Gly578Asp	rs1458183826	missense variant	-	NC_000017.11:g.30203257C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Ile581Lys	rs1349059348	missense variant	-	NC_000017.11:g.30203248A>T	gnomAD
SLC6A4	P31645	p.Ile581MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.30203246_30203247CT>-	NCI-TCGA
SLC6A4	P31645	p.Thr583Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30203243T>C	NCI-TCGA
SLC6A4	P31645	p.Ser584Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.30203239G>T	NCI-TCGA
SLC6A4	P31645	p.Ser585Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.30203236G>A	NCI-TCGA
SLC6A4	P31645	p.Phe586Leu	rs780432538	missense variant	-	NC_000017.11:g.30203234A>G	ExAC,gnomAD
SLC6A4	P31645	p.Phe586Leu	rs1233313572	missense variant	-	NC_000017.11:g.30203232G>T	TOPMed
SLC6A4	P31645	p.Ile587Leu	rs750295534	missense variant	-	NC_000017.11:g.30203231T>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile587Val	rs750295534	missense variant	-	NC_000017.11:g.30203231T>C	ExAC,gnomAD
SLC6A4	P31645	p.Pro590Leu	rs1476888015	missense variant	-	NC_000017.11:g.30203221G>A	gnomAD
SLC6A4	P31645	p.Thr591Lys	rs757262209	missense variant	-	NC_000017.11:g.30203218G>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile593Val	rs1192255974	missense variant	-	NC_000017.11:g.30203213T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Arg596Trp	rs201481838	missense variant	-	NC_000017.11:g.30203204G>A	TOPMed
SLC6A4	P31645	p.Arg596Gln	rs200544663	missense variant	-	NC_000017.11:g.30203203C>T	TOPMed
SLC6A4	P31645	p.Leu597Phe	rs762463325	missense variant	-	NC_000017.11:g.30203199C>A	ExAC,gnomAD
SLC6A4	P31645	p.Ile599Val	rs1483597826	missense variant	-	NC_000017.11:g.30203195T>C	TOPMed
SLC6A4	P31645	p.Pro601Ser	rs75354642	missense variant	-	NC_000017.11:g.30203189G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro601Leu	rs764936225	missense variant	-	NC_000017.11:g.30203188G>A	ExAC,gnomAD
SLC6A4	P31645	p.Lys605Asn	rs6352	missense variant	-	NC_000017.11:g.30203175T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys605Asn	RCV000280167	missense variant	Behavior disorder	NC_000017.11:g.30203175T>G	ClinVar
SLC6A4	P31645	p.Arg607Cys	rs200015551	missense variant	-	NC_000017.11:g.30198530G>A	ESP,ExAC,gnomAD
SLC6A4	P31645	p.Arg607His	rs757900848	missense variant	-	NC_000017.11:g.30198529C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile608Phe	rs752261598	missense variant	-	NC_000017.11:g.30198527T>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys610Arg	rs775165264	missense variant	-	NC_000017.11:g.30198520T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Lys610Thr	rs775165264	missense variant	-	NC_000017.11:g.30198520T>G	TOPMed,gnomAD
SLC6A4	P31645	p.Lys610Gln	rs201520429	missense variant	-	NC_000017.11:g.30198521T>G	1000Genomes
SLC6A4	P31645	p.Lys610Glu	rs201520429	missense variant	-	NC_000017.11:g.30198521T>C	1000Genomes
SLC6A4	P31645	p.Ser611Thr	rs764848273	missense variant	-	NC_000017.11:g.30198517C>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile612Val	rs752898241	missense variant	-	NC_000017.11:g.30198515T>C	gnomAD
SLC6A4	P31645	p.Pro617Leu	rs375913512	missense variant	-	NC_000017.11:g.30198499G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro617Arg	rs375913512	missense variant	-	NC_000017.11:g.30198499G>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro617Ser	rs1161007387	missense variant	-	NC_000017.11:g.30198500G>A	gnomAD
SLC6A4	P31645	p.Glu619AspPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.30198492_30198493insTCTGTTGGTATGATCATTGGTATCTGATA	NCI-TCGA
SLC6A4	P31645	p.Pro621Ser	rs1380052080	missense variant	-	NC_000017.11:g.30198488G>A	gnomAD
SLC6A4	P31645	p.Gly623Arg	rs767870286	missense variant	-	NC_000017.11:g.30198482C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile625Thr	rs762095684	missense variant	-	NC_000017.11:g.30198475A>G	ExAC,gnomAD
SLC6A4	P31645	p.Arg626Leu	rs142441982	missense variant	-	NC_000017.11:g.30198472C>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg626His	rs142441982	missense variant	-	NC_000017.11:g.30198472C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg626Cys	rs774928752	missense variant	-	NC_000017.11:g.30198473G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ala629Val	rs1354400366	missense variant	-	NC_000017.11:g.30198463G>A	gnomAD
SLC6A4	P31645	p.Glu2Asp	rs75808495	missense variant	-	NC_000017.11:g.30221953C>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr3Met	rs1338210090	missense variant	-	NC_000017.11:g.30221951G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Thr4Ala	rs765035150	missense variant	-	NC_000017.11:g.30221949T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr4Met	rs201688297	missense variant	-	NC_000017.11:g.30221948G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu6Ser	rs1406941594	missense variant	-	NC_000017.11:g.30221942A>G	gnomAD
SLC6A4	P31645	p.Lys10Arg	rs762401531	missense variant	-	NC_000017.11:g.30221930T>C	ExAC,gnomAD
SLC6A4	P31645	p.Gln11Lys	rs922740757	missense variant	-	NC_000017.11:g.30221928G>T	TOPMed
SLC6A4	P31645	p.Ser13Leu	rs774252706	missense variant	-	NC_000017.11:g.30221921G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala14Val	rs763069645	missense variant	-	NC_000017.11:g.30221918G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala14Glu	rs763069645	missense variant	-	NC_000017.11:g.30221918G>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala14Val	RCV000400361	missense variant	Behavior disorder	NC_000017.11:g.30221918G>A	ClinVar
SLC6A4	P31645	p.Cys21Tyr	rs1452608078	missense variant	-	NC_000017.11:g.30221897C>T	gnomAD
SLC6A4	P31645	p.Gln22Pro	rs1457763470	missense variant	-	NC_000017.11:g.30221894T>G	TOPMed
SLC6A4	P31645	p.Gly25Arg	rs199727635	missense variant	-	NC_000017.11:g.30221886C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val26Ala	rs375503605	missense variant	-	NC_000017.11:g.30221882A>G	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys29Met	rs1364333745	missense variant	-	NC_000017.11:g.30221873T>A	gnomAD
SLC6A4	P31645	p.Val31Phe	rs747721432	missense variant	-	NC_000017.11:g.30221868C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro32Ala	rs778707175	missense variant	-	NC_000017.11:g.30221865G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro32Ser	rs778707175	missense variant	-	NC_000017.11:g.30221865G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro34Ala	rs1331477421	missense variant	-	NC_000017.11:g.30221859G>C	gnomAD
SLC6A4	P31645	p.Gly35Arg	rs754684306	missense variant	-	NC_000017.11:g.30221856C>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly35Glu	rs372056901	missense variant	-	NC_000017.11:g.30221855C>T	ESP,ExAC,gnomAD
SLC6A4	P31645	p.Lys37Ile	rs1372689679	missense variant	-	NC_000017.11:g.30221849T>A	gnomAD
SLC6A4	P31645	p.Val38Met	rs1169264519	missense variant	-	NC_000017.11:g.30221847C>T	gnomAD
SLC6A4	P31645	p.Glu39Gln	rs757599379	missense variant	-	NC_000017.11:g.30221844C>G	ExAC,gnomAD
SLC6A4	P31645	p.Glu39Gly	rs752079357	missense variant	-	NC_000017.11:g.30221843T>C	ExAC,gnomAD
SLC6A4	P31645	p.Gly41Arg	rs140436169	missense variant	-	NC_000017.11:g.30221838C>G	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly41Arg	rs140436169	missense variant	-	NC_000017.11:g.30221838C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn45Ser	rs200263321	missense variant	-	NC_000017.11:g.30221825T>C	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser48Leu	rs200339864	missense variant	-	NC_000017.11:g.30221816G>A	ExAC,gnomAD
SLC6A4	P31645	p.Val50Leu	rs202152288	missense variant	-	NC_000017.11:g.30221811C>G	TOPMed,gnomAD
SLC6A4	P31645	p.Ala55Val	rs746829911	missense variant	-	NC_000017.11:g.30221795G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala55Thr	rs770728789	missense variant	-	NC_000017.11:g.30221796C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly56Ala	rs6355	missense variant	-	NC_000017.11:g.30221792C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp57His	rs747597376	missense variant	-	NC_000017.11:g.30221790C>G	ExAC,gnomAD
SLC6A4	P31645	p.Arg60Trp	rs754635080	missense variant	-	NC_000017.11:g.30221781G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg60Gln	rs748936504	missense variant	-	NC_000017.11:g.30221780C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser62Cys	rs201041934	missense variant	-	NC_000017.11:g.30221774G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile63Val	rs1362266683	missense variant	-	NC_000017.11:g.30221772T>C	gnomAD
SLC6A4	P31645	p.Ala65Glu	rs140484986	missense variant	-	NC_000017.11:g.30221765G>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala65Val	rs140484986	missense variant	-	NC_000017.11:g.30221765G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr66Ser	rs1171155787	missense variant	-	NC_000017.11:g.30221763T>A	TOPMed,gnomAD
SLC6A4	P31645	p.Thr67Ile	rs758918159	missense variant	-	NC_000017.11:g.30221759G>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr69Ala	rs1230700471	missense variant	-	NC_000017.11:g.30221754T>C	gnomAD
SLC6A4	P31645	p.Gln76Glu	rs1243133079	missense variant	-	NC_000017.11:g.30221733G>C	TOPMed
SLC6A4	P31645	p.Gln76His	rs1277908759	missense variant	-	NC_000017.11:g.30221731T>A	gnomAD
SLC6A4	P31645	p.Arg79Gln	rs760517433	missense variant	-	NC_000017.11:g.30221723C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg79Trp	rs1221448303	missense variant	-	NC_000017.11:g.30221724G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Arg79Pro	rs760517433	missense variant	-	NC_000017.11:g.30221723C>G	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg79Leu	rs760517433	missense variant	-	NC_000017.11:g.30221723C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr81Ala	rs1289152192	missense variant	-	NC_000017.11:g.30221718T>C	gnomAD
SLC6A4	P31645	p.Trp82Arg	rs772080063	missense variant	-	NC_000017.11:g.30221715A>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly83Ser	rs1304639036	missense variant	-	NC_000017.11:g.30221712C>T	gnomAD
SLC6A4	P31645	p.Lys84Arg	rs774467106	missense variant	-	NC_000017.11:g.30221708T>C	ExAC,gnomAD
SLC6A4	P31645	p.Lys84Glu	rs748124693	missense variant	-	NC_000017.11:g.30221709T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys85Asn	rs1459089712	missense variant	-	NC_000017.11:g.30221704C>G	gnomAD
SLC6A4	P31645	p.Lys85Met	rs1332783171	missense variant	-	NC_000017.11:g.30221705T>A	gnomAD
SLC6A4	P31645	p.Asp87Tyr	rs1159379145	missense variant	-	NC_000017.11:g.30221700C>A	gnomAD
SLC6A4	P31645	p.Leu90Phe	rs1183088111	missense variant	-	NC_000017.11:g.30221691G>A	gnomAD
SLC6A4	P31645	p.Tyr95His	rs1483323164	missense variant	-	NC_000017.11:g.30221676A>G	gnomAD
SLC6A4	P31645	p.Val102Ile	rs769335893	missense variant	-	NC_000017.11:g.30221655C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg104Cys	rs200953188	missense variant	-	NC_000017.11:g.30221649G>A	TOPMed
SLC6A4	P31645	p.Pro106Leu	rs1207932786	missense variant	-	NC_000017.11:g.30221642G>A	gnomAD
SLC6A4	P31645	p.Ile108Val	rs56316081	missense variant	-	NC_000017.11:g.30221637T>C	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gln111His	rs778131401	missense variant	-	NC_000017.11:g.30221626C>A	ExAC,gnomAD
SLC6A4	P31645	p.Asn112Ser	rs758865066	missense variant	-	NC_000017.11:g.30221624T>C	ExAC,gnomAD
SLC6A4	P31645	p.Thr122Ile	rs1199374764	missense variant	-	NC_000017.11:g.30218910G>A	TOPMed
SLC6A4	P31645	p.Ile123Thr	rs542708308	missense variant	-	NC_000017.11:g.30218907A>G	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Met124Thr	rs779391253	missense variant	-	NC_000017.11:g.30218904A>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile126Val	rs755449138	missense variant	-	NC_000017.11:g.30218899T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile126Ser	rs1435297805	missense variant	-	NC_000017.11:g.30218898A>C	TOPMed
SLC6A4	P31645	p.Phe127Ser	rs780022333	missense variant	-	NC_000017.11:g.30218895A>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile130Val	rs756254987	missense variant	-	NC_000017.11:g.30218887T>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile130Phe	rs756254987	missense variant	-	NC_000017.11:g.30218887T>A	ExAC,gnomAD
SLC6A4	P31645	p.Tyr134Phe	rs575214286	missense variant	-	NC_000017.11:g.30218874T>A	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Met135Leu	rs1274463771	missense variant	-	NC_000017.11:g.30218872T>A	gnomAD
SLC6A4	P31645	p.Met135Val	rs1274463771	missense variant	-	NC_000017.11:g.30218872T>C	gnomAD
SLC6A4	P31645	p.Met135Thr	rs764034794	missense variant	-	NC_000017.11:g.30218871A>G	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala138Thr	rs201802369	missense variant	-	NC_000017.11:g.30218863C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.His143Tyr	rs769156350	missense variant	-	NC_000017.11:g.30218848G>A	ExAC,TOPMed
SLC6A4	P31645	p.Arg144Ter	rs759098089	stop gained	-	NC_000017.11:g.30218845G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg144Gln	rs147306146	missense variant	-	NC_000017.11:g.30218844C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn145Ser	rs770637680	missense variant	-	NC_000017.11:g.30218841T>C	ExAC,gnomAD
SLC6A4	P31645	p.Cys147Tyr	rs1294341765	missense variant	-	NC_000017.11:g.30218835C>T	TOPMed
SLC6A4	P31645	p.Ile148Val	rs1167206964	missense variant	-	NC_000017.11:g.30218833T>C	gnomAD
SLC6A4	P31645	p.Trp151Arg	rs774597104	missense variant	-	NC_000017.11:g.30218824A>T	ExAC,gnomAD
SLC6A4	P31645	p.Arg152Gly	rs769159876	missense variant	-	NC_000017.11:g.30218821T>C	ExAC,gnomAD
SLC6A4	P31645	p.Lys153Ter	rs1176511049	stop gained	-	NC_000017.11:g.30218818T>A	TOPMed,gnomAD
SLC6A4	P31645	p.Lys153Gln	rs1176511049	missense variant	-	NC_000017.11:g.30218818T>G	TOPMed,gnomAD
SLC6A4	P31645	p.Cys155Ser	rs749793113	missense variant	-	NC_000017.11:g.30218812A>T	ExAC,gnomAD
SLC6A4	P31645	p.Pro156Leu	rs201940331	missense variant	-	NC_000017.11:g.30218808G>A	TOPMed
SLC6A4	P31645	p.Ile157Val	rs145643221	missense variant	-	NC_000017.11:g.30218806T>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys159Glu	rs1264232560	missense variant	-	NC_000017.11:g.30218800T>C	TOPMed
SLC6A4	P31645	p.Ile161Thr	rs201833332	missense variant	-	NC_000017.11:g.30218334A>G	ExAC,gnomAD
SLC6A4	P31645	p.Ala164Gly	rs757512580	missense variant	-	NC_000017.11:g.30218325G>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile165Val	rs747167318	missense variant	-	NC_000017.11:g.30218323T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile165Thr	rs778107856	missense variant	-	NC_000017.11:g.30218322A>G	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Cys166Ser	rs1451855468	missense variant	-	NC_000017.11:g.30218319C>G	gnomAD
SLC6A4	P31645	p.Ile168Thr	rs562232343	missense variant	-	NC_000017.11:g.30218313A>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile172Phe	rs1448474106	missense variant	-	NC_000017.11:g.30218302T>A	TOPMed
SLC6A4	P31645	p.Tyr176His	rs752604553	missense variant	-	NC_000017.11:g.30218290A>G	ExAC,gnomAD
SLC6A4	P31645	p.Tyr176Cys	rs1157064124	missense variant	-	NC_000017.11:g.30218289T>C	gnomAD
SLC6A4	P31645	p.Asn177Thr	rs1459451195	missense variant	-	NC_000017.11:g.30218286T>G	gnomAD
SLC6A4	P31645	p.Thr178Ile	rs765019430	missense variant	-	NC_000017.11:g.30218283G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ile179Val	rs140206260	missense variant	-	NC_000017.11:g.30218281T>C	ESP
SLC6A4	P31645	p.Trp182Leu	rs754925524	missense variant	-	NC_000017.11:g.30218271C>A	ExAC,TOPMed
SLC6A4	P31645	p.Ala183Gly	rs201387005	missense variant	-	NC_000017.11:g.30218268G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Ala183Val	rs201387005	missense variant	-	NC_000017.11:g.30218268G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Tyr185His	rs1283036110	missense variant	-	NC_000017.11:g.30218263A>G	gnomAD
SLC6A4	P31645	p.Tyr185Cys	rs753300083	missense variant	-	NC_000017.11:g.30218262T>C	ExAC,gnomAD
SLC6A4	P31645	p.Ser189Phe	rs765907376	missense variant	-	NC_000017.11:g.30218250G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ser190Tyr	rs760222214	missense variant	-	NC_000017.11:g.30218247G>T	ExAC,gnomAD
SLC6A4	P31645	p.Thr192Ala	rs1390660090	missense variant	-	NC_000017.11:g.30218242T>C	TOPMed
SLC6A4	P31645	p.Thr192Met	rs144427337	missense variant	-	NC_000017.11:g.30218241G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp193Asn	rs55848249	missense variant	-	NC_000017.11:g.30218239C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gln194Arg	rs763156986	missense variant	-	NC_000017.11:g.30218235T>C	ExAC,gnomAD
SLC6A4	P31645	p.Lys201Asn	rs2228673	missense variant	-	NC_000017.11:g.30218213C>G	-
SLC6A4	P31645	p.Lys201Asn	rs2228673	missense variant	-	NC_000017.11:g.30218213C>G	UniProt,dbSNP
SLC6A4	P31645	p.Lys201Asn	VAR_029158	missense variant	-	NC_000017.11:g.30218213C>G	UniProt
SLC6A4	P31645	p.Gly207Asp	rs775933915	missense variant	-	NC_000017.11:g.30218196C>T	ExAC,gnomAD
SLC6A4	P31645	p.Gly207Ser	rs1325649419	missense variant	-	NC_000017.11:g.30218197C>T	gnomAD
SLC6A4	P31645	p.Asn208Ser	rs201518786	missense variant	-	NC_000017.11:g.30218193T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn208Asp	rs966629698	missense variant	-	NC_000017.11:g.30218194T>C	TOPMed
SLC6A4	P31645	p.Thr210Ser	rs1391771916	missense variant	-	NC_000017.11:g.30218187G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Thr210Asn	rs1391771916	missense variant	-	NC_000017.11:g.30218187G>T	TOPMed,gnomAD
SLC6A4	P31645	p.Asn211Ser	rs184149069	missense variant	-	NC_000017.11:g.30218184T>C	1000Genomes
SLC6A4	P31645	p.Glu215Ter	rs199504488	stop gained	-	NC_000017.11:g.30218173C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Glu215Lys	rs199504488	missense variant	-	NC_000017.11:g.30218173C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp216Glu	rs747173078	missense variant	-	NC_000017.11:g.30218168G>T	ExAC,gnomAD
SLC6A4	P31645	p.Asn217Ile	rs201506679	missense variant	-	NC_000017.11:g.30218166T>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn217Ser	rs201506679	missense variant	-	NC_000017.11:g.30218166T>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile218Thr	rs1240739803	missense variant	-	NC_000017.11:g.30218163A>G	gnomAD
SLC6A4	P31645	p.Thr221Ile	rs1201529504	missense variant	-	NC_000017.11:g.30218154G>A	gnomAD
SLC6A4	P31645	p.Leu222Phe	rs772343502	missense variant	-	NC_000017.11:g.30218152G>A	ExAC,gnomAD
SLC6A4	P31645	p.Leu222Pro	rs191881524	missense variant	-	NC_000017.11:g.30218151A>G	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Thr225Met	rs200486204	missense variant	-	NC_000017.11:g.30218142G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr225Lys	rs200486204	missense variant	-	NC_000017.11:g.30218142G>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro227Ser	rs1229098377	missense variant	-	NC_000017.11:g.30218137G>A	gnomAD
SLC6A4	P31645	p.Ala228Asp	rs1249507811	missense variant	-	NC_000017.11:g.30218133G>T	TOPMed
SLC6A4	P31645	p.Thr233Met	rs755613830	missense variant	-	NC_000017.11:g.30218118G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234Leu	rs763898530	missense variant	-	NC_000017.11:g.30217302C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234Cys	rs751233939	missense variant	-	NC_000017.11:g.30217303G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234His	rs763898530	missense variant	-	NC_000017.11:g.30217302C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.His235Leu	rs200548683	missense variant	-	NC_000017.11:g.30217299T>A	TOPMed,gnomAD
SLC6A4	P31645	p.His235Tyr	rs755390416	missense variant	-	NC_000017.11:g.30217300G>A	ExAC,gnomAD
SLC6A4	P31645	p.Val236Ile	rs117750329	missense variant	-	NC_000017.11:g.30217297C>T	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Gln238Arg	rs1235060240	missense variant	-	NC_000017.11:g.30217290T>C	gnomAD
SLC6A4	P31645	p.Arg241Gln	rs142505940	missense variant	-	NC_000017.11:g.30217281C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg241Leu	rs142505940	missense variant	-	NC_000017.11:g.30217281C>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu245Phe	rs1201575822	missense variant	-	NC_000017.11:g.30217270G>A	gnomAD
SLC6A4	P31645	p.Gly250Asp	rs774549180	missense variant	-	NC_000017.11:g.30217254C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly250Val	rs774549180	missense variant	-	NC_000017.11:g.30217254C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly250Ser	rs761852274	missense variant	-	NC_000017.11:g.30217255C>T	ExAC,gnomAD
SLC6A4	P31645	p.Gln254His	rs1439280324	missense variant	-	NC_000017.11:g.30217241C>G	TOPMed
SLC6A4	P31645	p.Gln254Pro	rs768866921	missense variant	-	NC_000017.11:g.30217242T>G	ExAC,gnomAD
SLC6A4	P31645	p.Leu257Phe	rs987757017	missense variant	-	NC_000017.11:g.30217234G>A	gnomAD
SLC6A4	P31645	p.Leu257Ile	rs987757017	missense variant	-	NC_000017.11:g.30217234G>T	gnomAD
SLC6A4	P31645	p.Cys258Arg	rs1245951483	missense variant	-	NC_000017.11:g.30217231A>G	TOPMed
SLC6A4	P31645	p.Met260Val	rs1459205643	missense variant	-	NC_000017.11:g.30217225T>C	gnomAD
SLC6A4	P31645	p.Thr264Ser	rs769577662	missense variant	-	NC_000017.11:g.30217212G>C	ExAC,gnomAD
SLC6A4	P31645	p.Val265Ile	rs745784773	missense variant	-	NC_000017.11:g.30217210C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile266Val	rs142071015	missense variant	-	NC_000017.11:g.30217207T>C	1000Genomes,TOPMed,gnomAD
SLC6A4	P31645	p.Ile266Thr	rs199913287	missense variant	-	NC_000017.11:g.30217206A>G	gnomAD
SLC6A4	P31645	p.Ile270Val	rs1445134432	missense variant	-	NC_000017.11:g.30217195T>C	gnomAD
SLC6A4	P31645	p.Ile270Thr	rs74330808	missense variant	-	NC_000017.11:g.30217194A>G	ExAC,gnomAD
SLC6A4	P31645	p.Val274Ile	rs746585288	missense variant	-	NC_000017.11:g.30217183C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr276Ala	rs1261466208	missense variant	-	NC_000017.11:g.30217177T>C	gnomAD
SLC6A4	P31645	p.Lys279Arg	rs773747465	missense variant	-	NC_000017.11:g.30217167T>C	ExAC,gnomAD
SLC6A4	P31645	p.Trp282Ser	rs200435184	missense variant	-	NC_000017.11:g.30216209C>G	TOPMed
SLC6A4	P31645	p.Val283Leu	rs138004662	missense variant	-	NC_000017.11:g.30216207C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val283Leu	RCV000344225	missense variant	Behavior disorder	NC_000017.11:g.30216207C>A	ClinVar
SLC6A4	P31645	p.Ile290Val	rs776627175	missense variant	-	NC_000017.11:g.30216186T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile291Val	rs1359413899	missense variant	-	NC_000017.11:g.30216183T>C	gnomAD
SLC6A4	P31645	p.Leu292Ile	rs770779030	missense variant	-	NC_000017.11:g.30216180G>T	ExAC,gnomAD
SLC6A4	P31645	p.Ser293Phe	rs199909202	missense variant	-	NC_000017.11:g.30216176G>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro303Arg	rs200924626	missense variant	-	NC_000017.11:g.30216146G>C	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Pro303His	rs200924626	missense variant	-	NC_000017.11:g.30216146G>T	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Phe311Leu	rs1020956488	missense variant	-	NC_000017.11:g.30216121G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Pro315Leu	rs1427445327	missense variant	-	NC_000017.11:g.30216110G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Asn316Ser	rs200977199	missense variant	-	NC_000017.11:g.30216107T>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Trp317Cys	rs1207431394	missense variant	-	NC_000017.11:g.30216103C>A	gnomAD
SLC6A4	P31645	p.Val325Met	rs1306137038	missense variant	-	NC_000017.11:g.30215714C>T	gnomAD
SLC6A4	P31645	p.Ile327Thr	rs1225691529	missense variant	-	NC_000017.11:g.30215707A>G	TOPMed
SLC6A4	P31645	p.Ala330Gly	rs1023963762	missense variant	-	NC_000017.11:g.30215698G>C	TOPMed
SLC6A4	P31645	p.Ala331Ser	rs201425535	missense variant	-	NC_000017.11:g.30215696C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala331Thr	rs201425535	missense variant	-	NC_000017.11:g.30215696C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gln332Pro	rs1469154080	missense variant	-	NC_000017.11:g.30215692T>G	gnomAD
SLC6A4	P31645	p.Gly342Glu	rs199876253	missense variant	-	NC_000017.11:g.30215662C>T	gnomAD
SLC6A4	P31645	p.Asn351Ser	rs201688096	missense variant	-	NC_000017.11:g.30215635T>C	ExAC,gnomAD
SLC6A4	P31645	p.Phe353Leu	rs1260947474	missense variant	-	NC_000017.11:g.30215630A>G	TOPMed
SLC6A4	P31645	p.Asn354Ser	rs1426735582	missense variant	-	NC_000017.11:g.30215626T>C	TOPMed
SLC6A4	P31645	p.Asn355Ser	rs766248228	missense variant	-	NC_000017.11:g.30215623T>C	ExAC,gnomAD
SLC6A4	P31645	p.Asn356Ser	rs775339451	missense variant	-	NC_000017.11:g.30215620T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Asn356Asp	rs1313057058	missense variant	-	NC_000017.11:g.30215621T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Ala361Val	rs1316520384	missense variant	-	NC_000017.11:g.30212862G>A	gnomAD
SLC6A4	P31645	p.Leu362Met	rs755973197	missense variant	-	NC_000017.11:g.30212860G>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val363Ala	rs371274847	missense variant	-	NC_000017.11:g.30212856A>G	ESP,TOPMed,gnomAD
SLC6A4	P31645	p.Val363Leu	rs767509248	missense variant	-	NC_000017.11:g.30212857C>G	ExAC,gnomAD
SLC6A4	P31645	p.Ser365Arg	rs140377388	missense variant	-	NC_000017.11:g.30212849G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser365Asn	rs1422350691	missense variant	-	NC_000017.11:g.30212850C>T	gnomAD
SLC6A4	P31645	p.Val366Met	rs774382857	missense variant	-	NC_000017.11:g.30212848C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val367Met	rs1372075335	missense variant	-	NC_000017.11:g.30212845C>T	gnomAD
SLC6A4	P31645	p.Cys369Tyr	rs763486810	missense variant	-	NC_000017.11:g.30212838C>T	ExAC,gnomAD
SLC6A4	P31645	p.Met370Thr	rs1240463629	missense variant	-	NC_000017.11:g.30212835A>G	TOPMed
SLC6A4	P31645	p.Thr371Ser	rs1481104171	missense variant	-	NC_000017.11:g.30212833T>A	gnomAD
SLC6A4	P31645	p.Thr371Met	rs1268954204	missense variant	-	NC_000017.11:g.30212832G>A	gnomAD
SLC6A4	P31645	p.Val374Ile	rs769439481	missense variant	-	NC_000017.11:g.30212824C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser375Leu	rs1196104137	missense variant	-	NC_000017.11:g.30212820G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Val378Ala	rs1268585061	missense variant	-	NC_000017.11:g.30212811A>G	gnomAD
SLC6A4	P31645	p.Phe380Cys	rs1225554343	missense variant	-	NC_000017.11:g.30212805A>C	gnomAD
SLC6A4	P31645	p.Met389Val	rs200983126	missense variant	-	NC_000017.11:g.30212779T>C	gnomAD
SLC6A4	P31645	p.Met389Leu	rs200983126	missense variant	-	NC_000017.11:g.30212779T>A	gnomAD
SLC6A4	P31645	p.Met389Ile	rs199886280	missense variant	-	NC_000017.11:g.30212777C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp400Asn	rs779526325	missense variant	-	NC_000017.11:g.30212746C>T	ExAC,gnomAD
SLC6A4	P31645	p.Asp400Glu	rs148279474	missense variant	-	NC_000017.11:g.30212744G>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala401Ser	rs374583307	missense variant	-	NC_000017.11:g.30212743C>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala401Thr	rs374583307	missense variant	-	NC_000017.11:g.30212743C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro403Leu	rs954957737	missense variant	-	NC_000017.11:g.30211421G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Pro403Arg	rs954957737	missense variant	-	NC_000017.11:g.30211421G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Ile408Thr	rs1317796205	missense variant	-	NC_000017.11:g.30211406A>G	gnomAD
SLC6A4	P31645	p.Thr409Met	rs1453755229	missense variant	-	NC_000017.11:g.30211403G>A	gnomAD
SLC6A4	P31645	p.Ala413Val	rs781619709	missense variant	-	NC_000017.11:g.30211391G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala413Thr	rs759854385	missense variant	-	NC_000017.11:g.30211392C>T	-
SLC6A4	P31645	p.Ile414Val	rs1346661301	missense variant	-	NC_000017.11:g.30211389T>C	gnomAD
SLC6A4	P31645	p.Ala419Val	rs143632225	missense variant	-	NC_000017.11:g.30211373G>A	ESP,TOPMed,gnomAD
SLC6A4	P31645	p.Ala419Gly	rs143632225	missense variant	-	NC_000017.11:g.30211373G>C	ESP,TOPMed,gnomAD
SLC6A4	P31645	p.Thr421Ala	rs777513509	missense variant	-	NC_000017.11:g.30211368T>C	ExAC,gnomAD
SLC6A4	P31645	p.Thr421Ile	rs199873504	missense variant	-	NC_000017.11:g.30211367G>A	ExAC,gnomAD
SLC6A4	P31645	p.Phe422Ser	rs752163355	missense variant	-	NC_000017.11:g.30211364A>G	ExAC
SLC6A4	P31645	p.Ile425Val	rs28914832	missense variant	-	NC_000017.11:g.30211356T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile425Val	rs28914832	missense variant	-	NC_000017.11:g.30211356T>C	UniProt,dbSNP
SLC6A4	P31645	p.Ile425Val	VAR_026751	missense variant	-	NC_000017.11:g.30211356T>C	UniProt
SLC6A4	P31645	p.Ile425Leu	rs28914832	missense variant	-	NC_000017.11:g.30211356T>G	UniProt,dbSNP
SLC6A4	P31645	p.Ile425Leu	VAR_036788	missense variant	-	NC_000017.11:g.30211356T>G	UniProt
SLC6A4	P31645	p.Ile425Leu	rs28914832	missense variant	-	NC_000017.11:g.30211356T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile425Val	RCV000013798	missense variant	Obsessive-compulsive disorder, susceptibility to	NC_000017.11:g.30211356T>C	ClinVar
SLC6A4	P31645	p.Phe427Ser	rs1409472269	missense variant	-	NC_000017.11:g.30211349A>G	TOPMed
SLC6A4	P31645	p.Phe428Leu	rs1368601938	missense variant	-	NC_000017.11:g.30211347A>G	gnomAD
SLC6A4	P31645	p.Leu429Pro	rs1286741075	missense variant	-	NC_000017.11:g.30211343A>G	TOPMed
SLC6A4	P31645	p.Thr433Met	rs145732192	missense variant	-	NC_000017.11:g.30211331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu434Gln	rs1215090146	missense variant	-	NC_000017.11:g.30211328A>T	gnomAD
SLC6A4	P31645	p.Leu436Ser	rs762020242	missense variant	-	NC_000017.11:g.30211322A>G	ExAC,gnomAD
SLC6A4	P31645	p.Thr439Met	rs774795329	missense variant	-	NC_000017.11:g.30211313G>A	ExAC,gnomAD
SLC6A4	P31645	p.Phe440Leu	rs760402602	missense variant	-	NC_000017.11:g.30210646A>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly445Trp	rs1308476920	missense variant	-	NC_000017.11:g.30210631C>A	gnomAD
SLC6A4	P31645	p.Val446Leu	rs888825054	missense variant	-	NC_000017.11:g.30210628C>A	TOPMed
SLC6A4	P31645	p.Thr448Met	rs750079448	missense variant	-	NC_000017.11:g.30210621G>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr448Ala	rs1217609157	missense variant	-	NC_000017.11:g.30210622T>C	gnomAD
SLC6A4	P31645	p.Ala449Gly	rs199890537	missense variant	-	NC_000017.11:g.30210618G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu451Met	rs1022398842	missense variant	-	NC_000017.11:g.30210613G>T	TOPMed
SLC6A4	P31645	p.Asp452Asn	rs1291723960	missense variant	-	NC_000017.11:g.30210610C>T	gnomAD
SLC6A4	P31645	p.His456Tyr	rs1250876597	missense variant	-	NC_000017.11:g.30210598G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Val457Ile	rs190758123	missense variant	-	NC_000017.11:g.30210595C>T	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val457Leu	rs190758123	missense variant	-	NC_000017.11:g.30210595C>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg461His	rs1480151829	missense variant	-	NC_000017.11:g.30210582C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Arg461Cys	rs773355828	missense variant	-	NC_000017.11:g.30210583G>A	ExAC,gnomAD
SLC6A4	P31645	p.Arg461Leu	rs1480151829	missense variant	-	NC_000017.11:g.30210582C>A	TOPMed,gnomAD
SLC6A4	P31645	p.Arg462Trp	rs771843360	missense variant	-	NC_000017.11:g.30210580G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg462Gln	rs748005133	missense variant	-	NC_000017.11:g.30210579C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg464Gln	rs200180716	missense variant	-	NC_000017.11:g.30210573C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg464Trp	rs201228840	missense variant	-	NC_000017.11:g.30210574G>A	ExAC,gnomAD
SLC6A4	P31645	p.Phe465Leu	rs28914833	missense variant	-	NC_000017.11:g.30210571A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Phe465Leu	rs28914833	missense variant	-	NC_000017.11:g.30210571A>G	UniProt,dbSNP
SLC6A4	P31645	p.Phe465Leu	VAR_036789	missense variant	-	NC_000017.11:g.30210571A>G	UniProt
SLC6A4	P31645	p.Val466Leu	rs767140114	missense variant	-	NC_000017.11:g.30210568C>G	ExAC,gnomAD
SLC6A4	P31645	p.Val466Met	rs767140114	missense variant	-	NC_000017.11:g.30210568C>T	ExAC,gnomAD
SLC6A4	P31645	p.Val466Leu	rs767140114	missense variant	-	NC_000017.11:g.30210568C>A	ExAC,gnomAD
SLC6A4	P31645	p.Ala468Thr	rs753124472	missense variant	-	NC_000017.11:g.30210562C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala468Pro	rs753124472	missense variant	-	NC_000017.11:g.30210562C>G	ExAC,gnomAD
SLC6A4	P31645	p.Val469Met	rs760161891	missense variant	-	NC_000017.11:g.30210559C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr472Ser	rs777035735	missense variant	-	NC_000017.11:g.30210549G>C	ExAC,gnomAD
SLC6A4	P31645	p.Thr472Ile	rs777035735	missense variant	-	NC_000017.11:g.30210549G>A	ExAC,gnomAD
SLC6A4	P31645	p.Cys473Ser	rs766432633	missense variant	-	NC_000017.11:g.30210546C>G	ExAC,gnomAD
SLC6A4	P31645	p.Phe474Leu	rs565310860	missense variant	-	NC_000017.11:g.30210544A>G	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Val479Ile	rs1408481123	missense variant	-	NC_000017.11:g.30210529C>T	gnomAD
SLC6A4	P31645	p.Thr480Ile	rs772344525	missense variant	-	NC_000017.11:g.30210525G>A	ExAC,gnomAD
SLC6A4	P31645	p.Leu481Val	rs747922477	missense variant	-	NC_000017.11:g.30210523G>C	ExAC,gnomAD
SLC6A4	P31645	p.Gly485Glu	rs1441466151	missense variant	-	NC_000017.11:g.30209238C>T	gnomAD
SLC6A4	P31645	p.Ala486Thr	rs1253653499	missense variant	-	NC_000017.11:g.30209236C>T	gnomAD
SLC6A4	P31645	p.Val488Met	rs55908511	missense variant	-	NC_000017.11:g.30209230C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu492Pro	rs1361567634	missense variant	-	NC_000017.11:g.30209217A>G	gnomAD
SLC6A4	P31645	p.Glu494Asp	rs200510224	missense variant	-	NC_000017.11:g.30209210C>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Glu494Asp	rs200510224	missense variant	-	NC_000017.11:g.30209210C>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr497Ala	rs202166264	missense variant	-	NC_000017.11:g.30209203T>C	TOPMed
SLC6A4	P31645	p.Thr497Met	rs770596399	missense variant	-	NC_000017.11:g.30209202G>A	ExAC,gnomAD
SLC6A4	P31645	p.Gly498Ala	rs1360012953	missense variant	-	NC_000017.11:g.30209199C>G	gnomAD
SLC6A4	P31645	p.Ala500Thr	rs1366793189	missense variant	-	NC_000017.11:g.30209194C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Val501Ala	rs1162971941	missense variant	-	NC_000017.11:g.30209190A>G	gnomAD
SLC6A4	P31645	p.Val501Gly	rs1162971941	missense variant	-	NC_000017.11:g.30209190A>C	gnomAD
SLC6A4	P31645	p.Ala505Val	rs200080084	missense variant	-	NC_000017.11:g.30209178G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala505Thr	rs1384899793	missense variant	-	NC_000017.11:g.30209179C>T	TOPMed
SLC6A4	P31645	p.Glu508Lys	rs750467787	missense variant	-	NC_000017.11:g.30209170C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala511Val	rs1178171471	missense variant	-	NC_000017.11:g.30209160G>A	TOPMed
SLC6A4	P31645	p.Ala511Thr	rs764370121	missense variant	-	NC_000017.11:g.30209161C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala511Ser	rs764370121	missense variant	-	NC_000017.11:g.30209161C>A	ExAC,gnomAD
SLC6A4	P31645	p.Val512Met	rs1354019846	missense variant	-	NC_000017.11:g.30209158C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Trp514Cys	rs775200271	missense variant	-	NC_000017.11:g.30209150C>A	ExAC,gnomAD
SLC6A4	P31645	p.Phe515Leu	rs759353073	missense variant	-	NC_000017.11:g.30209147G>T	ExAC,gnomAD
SLC6A4	P31645	p.Phe515Val	rs956267339	missense variant	-	NC_000017.11:g.30209149A>C	TOPMed
SLC6A4	P31645	p.Phe515Leu	rs759353073	missense variant	-	NC_000017.11:g.30209147G>C	ExAC,gnomAD
SLC6A4	P31645	p.Tyr516Cys	rs1340180605	missense variant	-	NC_000017.11:g.30209145T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Thr519Ala	rs776642079	missense variant	-	NC_000017.11:g.30207827T>C	ExAC,gnomAD
SLC6A4	P31645	p.Thr519Ser	rs776642079	missense variant	-	NC_000017.11:g.30207827T>A	ExAC,gnomAD
SLC6A4	P31645	p.Cys522Arg	rs766490168	missense variant	-	NC_000017.11:g.30207818A>G	ExAC,gnomAD
SLC6A4	P31645	p.Arg523Lys	rs1446514460	missense variant	-	NC_000017.11:g.30207814C>T	gnomAD
SLC6A4	P31645	p.Val525Met	rs772894432	missense variant	-	NC_000017.11:g.30207809C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu529Phe	rs544236344	missense variant	-	NC_000017.11:g.30207797G>A	1000Genomes
SLC6A4	P31645	p.Leu529Pro	rs747712449	missense variant	-	NC_000017.11:g.30207796A>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly530Ser	rs374144565	missense variant	-	NC_000017.11:g.30207794C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Phe531Leu	rs1234594653	missense variant	-	NC_000017.11:g.30207791A>G	gnomAD
SLC6A4	P31645	p.Ser532Ile	rs781657921	missense variant	-	NC_000017.11:g.30207787C>A	ExAC,gnomAD
SLC6A4	P31645	p.Pro533Leu	rs201114547	missense variant	-	NC_000017.11:g.30207784G>A	ExAC,gnomAD
SLC6A4	P31645	p.Trp535Leu	rs777676943	missense variant	-	NC_000017.11:g.30207778C>A	ExAC,TOPMed
SLC6A4	P31645	p.Trp535Ter	rs777676943	stop gained	-	NC_000017.11:g.30207778C>T	ExAC,TOPMed
SLC6A4	P31645	p.Trp537Ter	rs1443264804	stop gained	-	NC_000017.11:g.30207772C>T	gnomAD
SLC6A4	P31645	p.Ile539Ser	rs1335591070	missense variant	-	NC_000017.11:g.30207766A>C	TOPMed
SLC6A4	P31645	p.Cys540Ter	rs907584878	stop gained	-	NC_000017.11:g.30207762G>T	gnomAD
SLC6A4	P31645	p.Cys540Tyr	rs558916313	missense variant	-	NC_000017.11:g.30207763C>T	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Trp541Ter	rs752804456	stop gained	-	NC_000017.11:g.30207759C>T	ExAC
SLC6A4	P31645	p.Val542Met	rs765500675	missense variant	-	NC_000017.11:g.30207758C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala543Thr	rs754815105	missense variant	-	NC_000017.11:g.30207755C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile544Val	rs753742568	missense variant	-	NC_000017.11:g.30207752T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser545Cys	rs753232412	missense variant	-	NC_000017.11:g.30207749T>A	gnomAD
SLC6A4	P31645	p.Phe548Leu	rs1350322936	missense variant	-	NC_000017.11:g.30207740A>G	gnomAD
SLC6A4	P31645	p.Leu550Val	rs28914834	missense variant	-	NC_000017.11:g.30207734G>C	UniProt,dbSNP
SLC6A4	P31645	p.Leu550Val	VAR_036790	missense variant	-	NC_000017.11:g.30207734G>C	UniProt
SLC6A4	P31645	p.Leu550Val	rs28914834	missense variant	-	NC_000017.11:g.30207734G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser555Gly	rs1180368034	missense variant	-	NC_000017.11:g.30203327T>C	gnomAD
SLC6A4	P31645	p.Ser555Thr	rs763707645	missense variant	-	NC_000017.11:g.30203326C>G	ExAC
SLC6A4	P31645	p.Met558Arg	rs762554912	missense variant	-	NC_000017.11:g.30203317A>C	ExAC,TOPMed
SLC6A4	P31645	p.Ser559Arg	rs771228274	missense variant	-	NC_000017.11:g.30203313G>T	ExAC,gnomAD
SLC6A4	P31645	p.Pro560Leu	rs1263969034	missense variant	-	NC_000017.11:g.30203311G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Pro561Ser	rs773586674	missense variant	-	NC_000017.11:g.30203309G>A	ExAC,gnomAD
SLC6A4	P31645	p.Arg564Gln	rs200740988	missense variant	-	NC_000017.11:g.30203299C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg564Ter	rs1222693893	stop gained	-	NC_000017.11:g.30203300G>A	gnomAD
SLC6A4	P31645	p.Tyr568His	rs779088918	missense variant	-	NC_000017.11:g.30203288A>G	ExAC,gnomAD
SLC6A4	P31645	p.Tyr570Phe	rs1342054504	missense variant	-	NC_000017.11:g.30203281T>A	gnomAD
SLC6A4	P31645	p.Tyr570Asn	rs768885008	missense variant	-	NC_000017.11:g.30203282A>T	ExAC
SLC6A4	P31645	p.Pro571Arg	rs1278275096	missense variant	-	NC_000017.11:g.30203278G>C	gnomAD
SLC6A4	P31645	p.Trp573Gly	rs749470382	missense variant	-	NC_000017.11:g.30203273A>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile576Val	rs199832478	missense variant	-	NC_000017.11:g.30203264T>C	gnomAD
SLC6A4	P31645	p.Gly578Asp	rs1458183826	missense variant	-	NC_000017.11:g.30203257C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Ile581Lys	rs1349059348	missense variant	-	NC_000017.11:g.30203248A>T	gnomAD
SLC6A4	P31645	p.Phe586Leu	rs780432538	missense variant	-	NC_000017.11:g.30203234A>G	ExAC,gnomAD
SLC6A4	P31645	p.Phe586Leu	rs1233313572	missense variant	-	NC_000017.11:g.30203232G>T	TOPMed
SLC6A4	P31645	p.Ile587Val	rs750295534	missense variant	-	NC_000017.11:g.30203231T>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile587Leu	rs750295534	missense variant	-	NC_000017.11:g.30203231T>G	ExAC,gnomAD
SLC6A4	P31645	p.Pro590Leu	rs1476888015	missense variant	-	NC_000017.11:g.30203221G>A	gnomAD
SLC6A4	P31645	p.Thr591Lys	rs757262209	missense variant	-	NC_000017.11:g.30203218G>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile593Val	rs1192255974	missense variant	-	NC_000017.11:g.30203213T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Arg596Trp	rs201481838	missense variant	-	NC_000017.11:g.30203204G>A	TOPMed
SLC6A4	P31645	p.Arg596Gln	rs200544663	missense variant	-	NC_000017.11:g.30203203C>T	TOPMed
SLC6A4	P31645	p.Leu597Phe	rs762463325	missense variant	-	NC_000017.11:g.30203199C>A	ExAC,gnomAD
SLC6A4	P31645	p.Ile599Val	rs1483597826	missense variant	-	NC_000017.11:g.30203195T>C	TOPMed
SLC6A4	P31645	p.Pro601Ser	rs75354642	missense variant	-	NC_000017.11:g.30203189G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro601Leu	rs764936225	missense variant	-	NC_000017.11:g.30203188G>A	ExAC,gnomAD
SLC6A4	P31645	p.Lys605Asn	rs6352	missense variant	-	NC_000017.11:g.30203175T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys605Asn	RCV000280167	missense variant	Behavior disorder	NC_000017.11:g.30203175T>G	ClinVar
SLC6A4	P31645	p.Arg607Cys	rs200015551	missense variant	-	NC_000017.11:g.30198530G>A	ESP,ExAC,gnomAD
SLC6A4	P31645	p.Arg607His	rs757900848	missense variant	-	NC_000017.11:g.30198529C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile608Phe	rs752261598	missense variant	-	NC_000017.11:g.30198527T>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys610Arg	rs775165264	missense variant	-	NC_000017.11:g.30198520T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Lys610Thr	rs775165264	missense variant	-	NC_000017.11:g.30198520T>G	TOPMed,gnomAD
SLC6A4	P31645	p.Lys610Gln	rs201520429	missense variant	-	NC_000017.11:g.30198521T>G	1000Genomes
SLC6A4	P31645	p.Lys610Glu	rs201520429	missense variant	-	NC_000017.11:g.30198521T>C	1000Genomes
SLC6A4	P31645	p.Ser611Thr	rs764848273	missense variant	-	NC_000017.11:g.30198517C>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile612Val	rs752898241	missense variant	-	NC_000017.11:g.30198515T>C	gnomAD
SLC6A4	P31645	p.Pro617Leu	rs375913512	missense variant	-	NC_000017.11:g.30198499G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro617Arg	rs375913512	missense variant	-	NC_000017.11:g.30198499G>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro617Ser	rs1161007387	missense variant	-	NC_000017.11:g.30198500G>A	gnomAD
SLC6A4	P31645	p.Pro621Ser	rs1380052080	missense variant	-	NC_000017.11:g.30198488G>A	gnomAD
SLC6A4	P31645	p.Gly623Arg	rs767870286	missense variant	-	NC_000017.11:g.30198482C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile625Thr	rs762095684	missense variant	-	NC_000017.11:g.30198475A>G	ExAC,gnomAD
SLC6A4	P31645	p.Arg626Leu	rs142441982	missense variant	-	NC_000017.11:g.30198472C>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg626His	rs142441982	missense variant	-	NC_000017.11:g.30198472C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg626Cys	rs774928752	missense variant	-	NC_000017.11:g.30198473G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ala629Val	rs1354400366	missense variant	-	NC_000017.11:g.30198463G>A	gnomAD
SLC6A4	P31645	p.Glu2Asp	rs75808495	missense variant	-	NC_000017.11:g.30221953C>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr3Met	rs1338210090	missense variant	-	NC_000017.11:g.30221951G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Thr4Ala	rs765035150	missense variant	-	NC_000017.11:g.30221949T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr4Met	rs201688297	missense variant	-	NC_000017.11:g.30221948G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu6Ser	rs1406941594	missense variant	-	NC_000017.11:g.30221942A>G	gnomAD
SLC6A4	P31645	p.Lys10Arg	rs762401531	missense variant	-	NC_000017.11:g.30221930T>C	ExAC,gnomAD
SLC6A4	P31645	p.Gln11Lys	rs922740757	missense variant	-	NC_000017.11:g.30221928G>T	TOPMed
SLC6A4	P31645	p.Ser13Leu	rs774252706	missense variant	-	NC_000017.11:g.30221921G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala14Val	RCV000400361	missense variant	Behavior disorder	NC_000017.11:g.30221918G>A	ClinVar
SLC6A4	P31645	p.Ala14Val	rs763069645	missense variant	-	NC_000017.11:g.30221918G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala14Glu	rs763069645	missense variant	-	NC_000017.11:g.30221918G>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Cys21Tyr	rs1452608078	missense variant	-	NC_000017.11:g.30221897C>T	gnomAD
SLC6A4	P31645	p.Gln22Pro	rs1457763470	missense variant	-	NC_000017.11:g.30221894T>G	TOPMed
SLC6A4	P31645	p.Gly25Arg	rs199727635	missense variant	-	NC_000017.11:g.30221886C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val26Ala	rs375503605	missense variant	-	NC_000017.11:g.30221882A>G	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys29Met	rs1364333745	missense variant	-	NC_000017.11:g.30221873T>A	gnomAD
SLC6A4	P31645	p.Val31Phe	rs747721432	missense variant	-	NC_000017.11:g.30221868C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro32Ser	rs778707175	missense variant	-	NC_000017.11:g.30221865G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro32Ala	rs778707175	missense variant	-	NC_000017.11:g.30221865G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro34Ala	rs1331477421	missense variant	-	NC_000017.11:g.30221859G>C	gnomAD
SLC6A4	P31645	p.Gly35Glu	rs372056901	missense variant	-	NC_000017.11:g.30221855C>T	ESP,ExAC,gnomAD
SLC6A4	P31645	p.Gly35Arg	rs754684306	missense variant	-	NC_000017.11:g.30221856C>G	ExAC,gnomAD
SLC6A4	P31645	p.Lys37Ile	rs1372689679	missense variant	-	NC_000017.11:g.30221849T>A	gnomAD
SLC6A4	P31645	p.Val38Met	rs1169264519	missense variant	-	NC_000017.11:g.30221847C>T	gnomAD
SLC6A4	P31645	p.Glu39Gly	rs752079357	missense variant	-	NC_000017.11:g.30221843T>C	ExAC,gnomAD
SLC6A4	P31645	p.Glu39Gln	rs757599379	missense variant	-	NC_000017.11:g.30221844C>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly41Arg	rs140436169	missense variant	-	NC_000017.11:g.30221838C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly41Arg	rs140436169	missense variant	-	NC_000017.11:g.30221838C>G	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn45Ser	rs200263321	missense variant	-	NC_000017.11:g.30221825T>C	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser48Leu	rs200339864	missense variant	-	NC_000017.11:g.30221816G>A	ExAC,gnomAD
SLC6A4	P31645	p.Val50Leu	rs202152288	missense variant	-	NC_000017.11:g.30221811C>G	TOPMed,gnomAD
SLC6A4	P31645	p.Ala55Thr	rs770728789	missense variant	-	NC_000017.11:g.30221796C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala55Val	rs746829911	missense variant	-	NC_000017.11:g.30221795G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly56Ala	rs6355	missense variant	-	NC_000017.11:g.30221792C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp57His	rs747597376	missense variant	-	NC_000017.11:g.30221790C>G	ExAC,gnomAD
SLC6A4	P31645	p.Arg60Trp	rs754635080	missense variant	-	NC_000017.11:g.30221781G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg60Gln	rs748936504	missense variant	-	NC_000017.11:g.30221780C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser62Cys	rs201041934	missense variant	-	NC_000017.11:g.30221774G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile63Val	rs1362266683	missense variant	-	NC_000017.11:g.30221772T>C	gnomAD
SLC6A4	P31645	p.Ala65Glu	rs140484986	missense variant	-	NC_000017.11:g.30221765G>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala65Val	rs140484986	missense variant	-	NC_000017.11:g.30221765G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr66Ser	rs1171155787	missense variant	-	NC_000017.11:g.30221763T>A	TOPMed,gnomAD
SLC6A4	P31645	p.Thr67Ile	rs758918159	missense variant	-	NC_000017.11:g.30221759G>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr69Ala	rs1230700471	missense variant	-	NC_000017.11:g.30221754T>C	gnomAD
SLC6A4	P31645	p.Gln76Glu	rs1243133079	missense variant	-	NC_000017.11:g.30221733G>C	TOPMed
SLC6A4	P31645	p.Gln76His	rs1277908759	missense variant	-	NC_000017.11:g.30221731T>A	gnomAD
SLC6A4	P31645	p.Arg79Trp	rs1221448303	missense variant	-	NC_000017.11:g.30221724G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Arg79Gln	rs760517433	missense variant	-	NC_000017.11:g.30221723C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg79Leu	rs760517433	missense variant	-	NC_000017.11:g.30221723C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg79Pro	rs760517433	missense variant	-	NC_000017.11:g.30221723C>G	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr81Ala	rs1289152192	missense variant	-	NC_000017.11:g.30221718T>C	gnomAD
SLC6A4	P31645	p.Trp82Arg	rs772080063	missense variant	-	NC_000017.11:g.30221715A>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly83Ser	rs1304639036	missense variant	-	NC_000017.11:g.30221712C>T	gnomAD
SLC6A4	P31645	p.Lys84Glu	rs748124693	missense variant	-	NC_000017.11:g.30221709T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys84Arg	rs774467106	missense variant	-	NC_000017.11:g.30221708T>C	ExAC,gnomAD
SLC6A4	P31645	p.Lys85Asn	rs1459089712	missense variant	-	NC_000017.11:g.30221704C>G	gnomAD
SLC6A4	P31645	p.Lys85Met	rs1332783171	missense variant	-	NC_000017.11:g.30221705T>A	gnomAD
SLC6A4	P31645	p.Asp87Tyr	rs1159379145	missense variant	-	NC_000017.11:g.30221700C>A	gnomAD
SLC6A4	P31645	p.Leu90Phe	rs1183088111	missense variant	-	NC_000017.11:g.30221691G>A	gnomAD
SLC6A4	P31645	p.Tyr95His	rs1483323164	missense variant	-	NC_000017.11:g.30221676A>G	gnomAD
SLC6A4	P31645	p.Val102Ile	rs769335893	missense variant	-	NC_000017.11:g.30221655C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg104Cys	rs200953188	missense variant	-	NC_000017.11:g.30221649G>A	TOPMed
SLC6A4	P31645	p.Pro106Leu	rs1207932786	missense variant	-	NC_000017.11:g.30221642G>A	gnomAD
SLC6A4	P31645	p.Ile108Val	rs56316081	missense variant	-	NC_000017.11:g.30221637T>C	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gln111His	rs778131401	missense variant	-	NC_000017.11:g.30221626C>A	ExAC,gnomAD
SLC6A4	P31645	p.Asn112Ser	rs758865066	missense variant	-	NC_000017.11:g.30221624T>C	ExAC,gnomAD
SLC6A4	P31645	p.Thr122Ile	rs1199374764	missense variant	-	NC_000017.11:g.30218910G>A	TOPMed
SLC6A4	P31645	p.Ile123Thr	rs542708308	missense variant	-	NC_000017.11:g.30218907A>G	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Met124Thr	rs779391253	missense variant	-	NC_000017.11:g.30218904A>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile126Val	rs755449138	missense variant	-	NC_000017.11:g.30218899T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile126Ser	rs1435297805	missense variant	-	NC_000017.11:g.30218898A>C	TOPMed
SLC6A4	P31645	p.Phe127Ser	rs780022333	missense variant	-	NC_000017.11:g.30218895A>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile130Val	rs756254987	missense variant	-	NC_000017.11:g.30218887T>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile130Phe	rs756254987	missense variant	-	NC_000017.11:g.30218887T>A	ExAC,gnomAD
SLC6A4	P31645	p.Tyr134Phe	rs575214286	missense variant	-	NC_000017.11:g.30218874T>A	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Met135Leu	rs1274463771	missense variant	-	NC_000017.11:g.30218872T>A	gnomAD
SLC6A4	P31645	p.Met135Thr	rs764034794	missense variant	-	NC_000017.11:g.30218871A>G	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Met135Val	rs1274463771	missense variant	-	NC_000017.11:g.30218872T>C	gnomAD
SLC6A4	P31645	p.Ala138Thr	rs201802369	missense variant	-	NC_000017.11:g.30218863C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.His143Tyr	rs769156350	missense variant	-	NC_000017.11:g.30218848G>A	ExAC,TOPMed
SLC6A4	P31645	p.Arg144Ter	rs759098089	stop gained	-	NC_000017.11:g.30218845G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg144Gln	rs147306146	missense variant	-	NC_000017.11:g.30218844C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn145Ser	rs770637680	missense variant	-	NC_000017.11:g.30218841T>C	ExAC,gnomAD
SLC6A4	P31645	p.Cys147Tyr	rs1294341765	missense variant	-	NC_000017.11:g.30218835C>T	TOPMed
SLC6A4	P31645	p.Ile148Val	rs1167206964	missense variant	-	NC_000017.11:g.30218833T>C	gnomAD
SLC6A4	P31645	p.Trp151Arg	rs774597104	missense variant	-	NC_000017.11:g.30218824A>T	ExAC,gnomAD
SLC6A4	P31645	p.Arg152Gly	rs769159876	missense variant	-	NC_000017.11:g.30218821T>C	ExAC,gnomAD
SLC6A4	P31645	p.Lys153Ter	rs1176511049	stop gained	-	NC_000017.11:g.30218818T>A	TOPMed,gnomAD
SLC6A4	P31645	p.Lys153Gln	rs1176511049	missense variant	-	NC_000017.11:g.30218818T>G	TOPMed,gnomAD
SLC6A4	P31645	p.Cys155Ser	rs749793113	missense variant	-	NC_000017.11:g.30218812A>T	ExAC,gnomAD
SLC6A4	P31645	p.Pro156Leu	rs201940331	missense variant	-	NC_000017.11:g.30218808G>A	TOPMed
SLC6A4	P31645	p.Ile157Val	rs145643221	missense variant	-	NC_000017.11:g.30218806T>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys159Glu	rs1264232560	missense variant	-	NC_000017.11:g.30218800T>C	TOPMed
SLC6A4	P31645	p.Ile161Thr	rs201833332	missense variant	-	NC_000017.11:g.30218334A>G	ExAC,gnomAD
SLC6A4	P31645	p.Ala164Gly	rs757512580	missense variant	-	NC_000017.11:g.30218325G>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile165Thr	rs778107856	missense variant	-	NC_000017.11:g.30218322A>G	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile165Val	rs747167318	missense variant	-	NC_000017.11:g.30218323T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Cys166Ser	rs1451855468	missense variant	-	NC_000017.11:g.30218319C>G	gnomAD
SLC6A4	P31645	p.Ile168Thr	rs562232343	missense variant	-	NC_000017.11:g.30218313A>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile172Phe	rs1448474106	missense variant	-	NC_000017.11:g.30218302T>A	TOPMed
SLC6A4	P31645	p.Tyr176Cys	rs1157064124	missense variant	-	NC_000017.11:g.30218289T>C	gnomAD
SLC6A4	P31645	p.Tyr176His	rs752604553	missense variant	-	NC_000017.11:g.30218290A>G	ExAC,gnomAD
SLC6A4	P31645	p.Asn177Thr	rs1459451195	missense variant	-	NC_000017.11:g.30218286T>G	gnomAD
SLC6A4	P31645	p.Thr178Ile	rs765019430	missense variant	-	NC_000017.11:g.30218283G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ile179Val	rs140206260	missense variant	-	NC_000017.11:g.30218281T>C	ESP
SLC6A4	P31645	p.Trp182Leu	rs754925524	missense variant	-	NC_000017.11:g.30218271C>A	ExAC,TOPMed
SLC6A4	P31645	p.Ala183Val	rs201387005	missense variant	-	NC_000017.11:g.30218268G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Ala183Gly	rs201387005	missense variant	-	NC_000017.11:g.30218268G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Tyr185His	rs1283036110	missense variant	-	NC_000017.11:g.30218263A>G	gnomAD
SLC6A4	P31645	p.Tyr185Cys	rs753300083	missense variant	-	NC_000017.11:g.30218262T>C	ExAC,gnomAD
SLC6A4	P31645	p.Ser189Phe	rs765907376	missense variant	-	NC_000017.11:g.30218250G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ser190Tyr	rs760222214	missense variant	-	NC_000017.11:g.30218247G>T	ExAC,gnomAD
SLC6A4	P31645	p.Thr192Ala	rs1390660090	missense variant	-	NC_000017.11:g.30218242T>C	TOPMed
SLC6A4	P31645	p.Thr192Met	rs144427337	missense variant	-	NC_000017.11:g.30218241G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp193Asn	rs55848249	missense variant	-	NC_000017.11:g.30218239C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gln194Arg	rs763156986	missense variant	-	NC_000017.11:g.30218235T>C	ExAC,gnomAD
SLC6A4	P31645	p.Lys201Asn	rs2228673	missense variant	-	NC_000017.11:g.30218213C>G	UniProt,dbSNP
SLC6A4	P31645	p.Lys201Asn	VAR_029158	missense variant	-	NC_000017.11:g.30218213C>G	UniProt
SLC6A4	P31645	p.Lys201Asn	rs2228673	missense variant	-	NC_000017.11:g.30218213C>G	-
SLC6A4	P31645	p.Gly207Asp	rs775933915	missense variant	-	NC_000017.11:g.30218196C>T	ExAC,gnomAD
SLC6A4	P31645	p.Gly207Ser	rs1325649419	missense variant	-	NC_000017.11:g.30218197C>T	gnomAD
SLC6A4	P31645	p.Asn208Ser	rs201518786	missense variant	-	NC_000017.11:g.30218193T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn208Asp	rs966629698	missense variant	-	NC_000017.11:g.30218194T>C	TOPMed
SLC6A4	P31645	p.Thr210Asn	rs1391771916	missense variant	-	NC_000017.11:g.30218187G>T	TOPMed,gnomAD
SLC6A4	P31645	p.Thr210Ser	rs1391771916	missense variant	-	NC_000017.11:g.30218187G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Asn211Ser	rs184149069	missense variant	-	NC_000017.11:g.30218184T>C	1000Genomes
SLC6A4	P31645	p.Glu215Ter	rs199504488	stop gained	-	NC_000017.11:g.30218173C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Glu215Lys	rs199504488	missense variant	-	NC_000017.11:g.30218173C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asp216Glu	rs747173078	missense variant	-	NC_000017.11:g.30218168G>T	ExAC,gnomAD
SLC6A4	P31645	p.Asn217Ile	rs201506679	missense variant	-	NC_000017.11:g.30218166T>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Asn217Ser	rs201506679	missense variant	-	NC_000017.11:g.30218166T>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile218Thr	rs1240739803	missense variant	-	NC_000017.11:g.30218163A>G	gnomAD
SLC6A4	P31645	p.Thr221Ile	rs1201529504	missense variant	-	NC_000017.11:g.30218154G>A	gnomAD
SLC6A4	P31645	p.Leu222Phe	rs772343502	missense variant	-	NC_000017.11:g.30218152G>A	ExAC,gnomAD
SLC6A4	P31645	p.Leu222Pro	rs191881524	missense variant	-	NC_000017.11:g.30218151A>G	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Thr225Met	rs200486204	missense variant	-	NC_000017.11:g.30218142G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr225Lys	rs200486204	missense variant	-	NC_000017.11:g.30218142G>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro227Ser	rs1229098377	missense variant	-	NC_000017.11:g.30218137G>A	gnomAD
SLC6A4	P31645	p.Ala228Asp	rs1249507811	missense variant	-	NC_000017.11:g.30218133G>T	TOPMed
SLC6A4	P31645	p.Thr233Met	rs755613830	missense variant	-	NC_000017.11:g.30218118G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234Leu	rs763898530	missense variant	-	NC_000017.11:g.30217302C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234His	rs763898530	missense variant	-	NC_000017.11:g.30217302C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg234Cys	rs751233939	missense variant	-	NC_000017.11:g.30217303G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.His235Leu	rs200548683	missense variant	-	NC_000017.11:g.30217299T>A	TOPMed,gnomAD
SLC6A4	P31645	p.His235Tyr	rs755390416	missense variant	-	NC_000017.11:g.30217300G>A	ExAC,gnomAD
SLC6A4	P31645	p.Val236Ile	rs117750329	missense variant	-	NC_000017.11:g.30217297C>T	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Gln238Arg	rs1235060240	missense variant	-	NC_000017.11:g.30217290T>C	gnomAD
SLC6A4	P31645	p.Arg241Gln	rs142505940	missense variant	-	NC_000017.11:g.30217281C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg241Leu	rs142505940	missense variant	-	NC_000017.11:g.30217281C>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu245Phe	rs1201575822	missense variant	-	NC_000017.11:g.30217270G>A	gnomAD
SLC6A4	P31645	p.Gly250Asp	rs774549180	missense variant	-	NC_000017.11:g.30217254C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly250Val	rs774549180	missense variant	-	NC_000017.11:g.30217254C>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gly250Ser	rs761852274	missense variant	-	NC_000017.11:g.30217255C>T	ExAC,gnomAD
SLC6A4	P31645	p.Gln254His	rs1439280324	missense variant	-	NC_000017.11:g.30217241C>G	TOPMed
SLC6A4	P31645	p.Gln254Pro	rs768866921	missense variant	-	NC_000017.11:g.30217242T>G	ExAC,gnomAD
SLC6A4	P31645	p.Leu257Phe	rs987757017	missense variant	-	NC_000017.11:g.30217234G>A	gnomAD
SLC6A4	P31645	p.Leu257Ile	rs987757017	missense variant	-	NC_000017.11:g.30217234G>T	gnomAD
SLC6A4	P31645	p.Cys258Arg	rs1245951483	missense variant	-	NC_000017.11:g.30217231A>G	TOPMed
SLC6A4	P31645	p.Met260Val	rs1459205643	missense variant	-	NC_000017.11:g.30217225T>C	gnomAD
SLC6A4	P31645	p.Thr264Ser	rs769577662	missense variant	-	NC_000017.11:g.30217212G>C	ExAC,gnomAD
SLC6A4	P31645	p.Val265Ile	rs745784773	missense variant	-	NC_000017.11:g.30217210C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile266Thr	rs199913287	missense variant	-	NC_000017.11:g.30217206A>G	gnomAD
SLC6A4	P31645	p.Ile266Val	rs142071015	missense variant	-	NC_000017.11:g.30217207T>C	1000Genomes,TOPMed,gnomAD
SLC6A4	P31645	p.Ile270Thr	rs74330808	missense variant	-	NC_000017.11:g.30217194A>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile270Val	rs1445134432	missense variant	-	NC_000017.11:g.30217195T>C	gnomAD
SLC6A4	P31645	p.Val274Ile	rs746585288	missense variant	-	NC_000017.11:g.30217183C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr276Ala	rs1261466208	missense variant	-	NC_000017.11:g.30217177T>C	gnomAD
SLC6A4	P31645	p.Lys279Arg	rs773747465	missense variant	-	NC_000017.11:g.30217167T>C	ExAC,gnomAD
SLC6A4	P31645	p.Trp282Ser	rs200435184	missense variant	-	NC_000017.11:g.30216209C>G	TOPMed
SLC6A4	P31645	p.Val283Leu	rs138004662	missense variant	-	NC_000017.11:g.30216207C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val283Leu	RCV000344225	missense variant	Behavior disorder	NC_000017.11:g.30216207C>A	ClinVar
SLC6A4	P31645	p.Ile290Val	rs776627175	missense variant	-	NC_000017.11:g.30216186T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile291Val	rs1359413899	missense variant	-	NC_000017.11:g.30216183T>C	gnomAD
SLC6A4	P31645	p.Leu292Ile	rs770779030	missense variant	-	NC_000017.11:g.30216180G>T	ExAC,gnomAD
SLC6A4	P31645	p.Ser293Phe	rs199909202	missense variant	-	NC_000017.11:g.30216176G>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro303His	rs200924626	missense variant	-	NC_000017.11:g.30216146G>T	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Pro303Arg	rs200924626	missense variant	-	NC_000017.11:g.30216146G>C	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Phe311Leu	rs1020956488	missense variant	-	NC_000017.11:g.30216121G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Pro315Leu	rs1427445327	missense variant	-	NC_000017.11:g.30216110G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Asn316Ser	rs200977199	missense variant	-	NC_000017.11:g.30216107T>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Trp317Cys	rs1207431394	missense variant	-	NC_000017.11:g.30216103C>A	gnomAD
SLC6A4	P31645	p.Val325Met	rs1306137038	missense variant	-	NC_000017.11:g.30215714C>T	gnomAD
SLC6A4	P31645	p.Ile327Thr	rs1225691529	missense variant	-	NC_000017.11:g.30215707A>G	TOPMed
SLC6A4	P31645	p.Ala330Gly	rs1023963762	missense variant	-	NC_000017.11:g.30215698G>C	TOPMed
SLC6A4	P31645	p.Ala331Thr	rs201425535	missense variant	-	NC_000017.11:g.30215696C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala331Ser	rs201425535	missense variant	-	NC_000017.11:g.30215696C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Gln332Pro	rs1469154080	missense variant	-	NC_000017.11:g.30215692T>G	gnomAD
SLC6A4	P31645	p.Gly342Glu	rs199876253	missense variant	-	NC_000017.11:g.30215662C>T	gnomAD
SLC6A4	P31645	p.Asn351Ser	rs201688096	missense variant	-	NC_000017.11:g.30215635T>C	ExAC,gnomAD
SLC6A4	P31645	p.Phe353Leu	rs1260947474	missense variant	-	NC_000017.11:g.30215630A>G	TOPMed
SLC6A4	P31645	p.Asn354Ser	rs1426735582	missense variant	-	NC_000017.11:g.30215626T>C	TOPMed
SLC6A4	P31645	p.Asn355Ser	rs766248228	missense variant	-	NC_000017.11:g.30215623T>C	ExAC,gnomAD
SLC6A4	P31645	p.Asn356Ser	rs775339451	missense variant	-	NC_000017.11:g.30215620T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Asn356Asp	rs1313057058	missense variant	-	NC_000017.11:g.30215621T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Ala361Val	rs1316520384	missense variant	-	NC_000017.11:g.30212862G>A	gnomAD
SLC6A4	P31645	p.Leu362Met	rs755973197	missense variant	-	NC_000017.11:g.30212860G>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val363Ala	rs371274847	missense variant	-	NC_000017.11:g.30212856A>G	ESP,TOPMed,gnomAD
SLC6A4	P31645	p.Val363Leu	rs767509248	missense variant	-	NC_000017.11:g.30212857C>G	ExAC,gnomAD
SLC6A4	P31645	p.Ser365Arg	rs140377388	missense variant	-	NC_000017.11:g.30212849G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser365Asn	rs1422350691	missense variant	-	NC_000017.11:g.30212850C>T	gnomAD
SLC6A4	P31645	p.Val366Met	rs774382857	missense variant	-	NC_000017.11:g.30212848C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val367Met	rs1372075335	missense variant	-	NC_000017.11:g.30212845C>T	gnomAD
SLC6A4	P31645	p.Cys369Tyr	rs763486810	missense variant	-	NC_000017.11:g.30212838C>T	ExAC,gnomAD
SLC6A4	P31645	p.Met370Thr	rs1240463629	missense variant	-	NC_000017.11:g.30212835A>G	TOPMed
SLC6A4	P31645	p.Thr371Met	rs1268954204	missense variant	-	NC_000017.11:g.30212832G>A	gnomAD
SLC6A4	P31645	p.Thr371Ser	rs1481104171	missense variant	-	NC_000017.11:g.30212833T>A	gnomAD
SLC6A4	P31645	p.Val374Ile	rs769439481	missense variant	-	NC_000017.11:g.30212824C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser375Leu	rs1196104137	missense variant	-	NC_000017.11:g.30212820G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Val378Ala	rs1268585061	missense variant	-	NC_000017.11:g.30212811A>G	gnomAD
SLC6A4	P31645	p.Phe380Cys	rs1225554343	missense variant	-	NC_000017.11:g.30212805A>C	gnomAD
SLC6A4	P31645	p.Met389Val	rs200983126	missense variant	-	NC_000017.11:g.30212779T>C	gnomAD
SLC6A4	P31645	p.Met389Ile	rs199886280	missense variant	-	NC_000017.11:g.30212777C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Met389Leu	rs200983126	missense variant	-	NC_000017.11:g.30212779T>A	gnomAD
SLC6A4	P31645	p.Asp400Asn	rs779526325	missense variant	-	NC_000017.11:g.30212746C>T	ExAC,gnomAD
SLC6A4	P31645	p.Asp400Glu	rs148279474	missense variant	-	NC_000017.11:g.30212744G>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala401Ser	rs374583307	missense variant	-	NC_000017.11:g.30212743C>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ala401Thr	rs374583307	missense variant	-	NC_000017.11:g.30212743C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro403Arg	rs954957737	missense variant	-	NC_000017.11:g.30211421G>C	TOPMed,gnomAD
SLC6A4	P31645	p.Pro403Leu	rs954957737	missense variant	-	NC_000017.11:g.30211421G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Ile408Thr	rs1317796205	missense variant	-	NC_000017.11:g.30211406A>G	gnomAD
SLC6A4	P31645	p.Thr409Met	rs1453755229	missense variant	-	NC_000017.11:g.30211403G>A	gnomAD
SLC6A4	P31645	p.Ala413Thr	rs759854385	missense variant	-	NC_000017.11:g.30211392C>T	-
SLC6A4	P31645	p.Ala413Val	rs781619709	missense variant	-	NC_000017.11:g.30211391G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile414Val	rs1346661301	missense variant	-	NC_000017.11:g.30211389T>C	gnomAD
SLC6A4	P31645	p.Ala419Val	rs143632225	missense variant	-	NC_000017.11:g.30211373G>A	ESP,TOPMed,gnomAD
SLC6A4	P31645	p.Ala419Gly	rs143632225	missense variant	-	NC_000017.11:g.30211373G>C	ESP,TOPMed,gnomAD
SLC6A4	P31645	p.Thr421Ile	rs199873504	missense variant	-	NC_000017.11:g.30211367G>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr421Ala	rs777513509	missense variant	-	NC_000017.11:g.30211368T>C	ExAC,gnomAD
SLC6A4	P31645	p.Phe422Ser	rs752163355	missense variant	-	NC_000017.11:g.30211364A>G	ExAC
SLC6A4	P31645	p.Ile425Val	rs28914832	missense variant	-	NC_000017.11:g.30211356T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile425Val	rs28914832	missense variant	-	NC_000017.11:g.30211356T>C	UniProt,dbSNP
SLC6A4	P31645	p.Ile425Val	VAR_026751	missense variant	-	NC_000017.11:g.30211356T>C	UniProt
SLC6A4	P31645	p.Ile425Leu	rs28914832	missense variant	-	NC_000017.11:g.30211356T>G	UniProt,dbSNP
SLC6A4	P31645	p.Ile425Leu	VAR_036788	missense variant	-	NC_000017.11:g.30211356T>G	UniProt
SLC6A4	P31645	p.Ile425Leu	rs28914832	missense variant	-	NC_000017.11:g.30211356T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile425Val	RCV000013798	missense variant	Obsessive-compulsive disorder, susceptibility to	NC_000017.11:g.30211356T>C	ClinVar
SLC6A4	P31645	p.Phe427Ser	rs1409472269	missense variant	-	NC_000017.11:g.30211349A>G	TOPMed
SLC6A4	P31645	p.Phe428Leu	rs1368601938	missense variant	-	NC_000017.11:g.30211347A>G	gnomAD
SLC6A4	P31645	p.Leu429Pro	rs1286741075	missense variant	-	NC_000017.11:g.30211343A>G	TOPMed
SLC6A4	P31645	p.Thr433Met	rs145732192	missense variant	-	NC_000017.11:g.30211331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu434Gln	rs1215090146	missense variant	-	NC_000017.11:g.30211328A>T	gnomAD
SLC6A4	P31645	p.Leu436Ser	rs762020242	missense variant	-	NC_000017.11:g.30211322A>G	ExAC,gnomAD
SLC6A4	P31645	p.Thr439Met	rs774795329	missense variant	-	NC_000017.11:g.30211313G>A	ExAC,gnomAD
SLC6A4	P31645	p.Phe440Leu	rs760402602	missense variant	-	NC_000017.11:g.30210646A>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly445Trp	rs1308476920	missense variant	-	NC_000017.11:g.30210631C>A	gnomAD
SLC6A4	P31645	p.Val446Leu	rs888825054	missense variant	-	NC_000017.11:g.30210628C>A	TOPMed
SLC6A4	P31645	p.Thr448Ala	rs1217609157	missense variant	-	NC_000017.11:g.30210622T>C	gnomAD
SLC6A4	P31645	p.Thr448Met	rs750079448	missense variant	-	NC_000017.11:g.30210621G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ala449Gly	rs199890537	missense variant	-	NC_000017.11:g.30210618G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu451Met	rs1022398842	missense variant	-	NC_000017.11:g.30210613G>T	TOPMed
SLC6A4	P31645	p.Asp452Asn	rs1291723960	missense variant	-	NC_000017.11:g.30210610C>T	gnomAD
SLC6A4	P31645	p.His456Tyr	rs1250876597	missense variant	-	NC_000017.11:g.30210598G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Val457Leu	rs190758123	missense variant	-	NC_000017.11:g.30210595C>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Val457Ile	rs190758123	missense variant	-	NC_000017.11:g.30210595C>T	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg461His	rs1480151829	missense variant	-	NC_000017.11:g.30210582C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Arg461Leu	rs1480151829	missense variant	-	NC_000017.11:g.30210582C>A	TOPMed,gnomAD
SLC6A4	P31645	p.Arg461Cys	rs773355828	missense variant	-	NC_000017.11:g.30210583G>A	ExAC,gnomAD
SLC6A4	P31645	p.Arg462Trp	rs771843360	missense variant	-	NC_000017.11:g.30210580G>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg462Gln	rs748005133	missense variant	-	NC_000017.11:g.30210579C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg464Trp	rs201228840	missense variant	-	NC_000017.11:g.30210574G>A	ExAC,gnomAD
SLC6A4	P31645	p.Arg464Gln	rs200180716	missense variant	-	NC_000017.11:g.30210573C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Phe465Leu	rs28914833	missense variant	-	NC_000017.11:g.30210571A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Phe465Leu	rs28914833	missense variant	-	NC_000017.11:g.30210571A>G	UniProt,dbSNP
SLC6A4	P31645	p.Phe465Leu	VAR_036789	missense variant	-	NC_000017.11:g.30210571A>G	UniProt
SLC6A4	P31645	p.Val466Leu	rs767140114	missense variant	-	NC_000017.11:g.30210568C>G	ExAC,gnomAD
SLC6A4	P31645	p.Val466Met	rs767140114	missense variant	-	NC_000017.11:g.30210568C>T	ExAC,gnomAD
SLC6A4	P31645	p.Val466Leu	rs767140114	missense variant	-	NC_000017.11:g.30210568C>A	ExAC,gnomAD
SLC6A4	P31645	p.Ala468Pro	rs753124472	missense variant	-	NC_000017.11:g.30210562C>G	ExAC,gnomAD
SLC6A4	P31645	p.Ala468Thr	rs753124472	missense variant	-	NC_000017.11:g.30210562C>T	ExAC,gnomAD
SLC6A4	P31645	p.Val469Met	rs760161891	missense variant	-	NC_000017.11:g.30210559C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr472Ile	rs777035735	missense variant	-	NC_000017.11:g.30210549G>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr472Ser	rs777035735	missense variant	-	NC_000017.11:g.30210549G>C	ExAC,gnomAD
SLC6A4	P31645	p.Cys473Ser	rs766432633	missense variant	-	NC_000017.11:g.30210546C>G	ExAC,gnomAD
SLC6A4	P31645	p.Phe474Leu	rs565310860	missense variant	-	NC_000017.11:g.30210544A>G	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Val479Ile	rs1408481123	missense variant	-	NC_000017.11:g.30210529C>T	gnomAD
SLC6A4	P31645	p.Thr480Ile	rs772344525	missense variant	-	NC_000017.11:g.30210525G>A	ExAC,gnomAD
SLC6A4	P31645	p.Leu481Val	rs747922477	missense variant	-	NC_000017.11:g.30210523G>C	ExAC,gnomAD
SLC6A4	P31645	p.Gly485Glu	rs1441466151	missense variant	-	NC_000017.11:g.30209238C>T	gnomAD
SLC6A4	P31645	p.Ala486Thr	rs1253653499	missense variant	-	NC_000017.11:g.30209236C>T	gnomAD
SLC6A4	P31645	p.Val488Met	rs55908511	missense variant	-	NC_000017.11:g.30209230C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu492Pro	rs1361567634	missense variant	-	NC_000017.11:g.30209217A>G	gnomAD
SLC6A4	P31645	p.Glu494Asp	rs200510224	missense variant	-	NC_000017.11:g.30209210C>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Glu494Asp	rs200510224	missense variant	-	NC_000017.11:g.30209210C>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Thr497Ala	rs202166264	missense variant	-	NC_000017.11:g.30209203T>C	TOPMed
SLC6A4	P31645	p.Thr497Met	rs770596399	missense variant	-	NC_000017.11:g.30209202G>A	ExAC,gnomAD
SLC6A4	P31645	p.Gly498Ala	rs1360012953	missense variant	-	NC_000017.11:g.30209199C>G	gnomAD
SLC6A4	P31645	p.Ala500Thr	rs1366793189	missense variant	-	NC_000017.11:g.30209194C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Val501Gly	rs1162971941	missense variant	-	NC_000017.11:g.30209190A>C	gnomAD
SLC6A4	P31645	p.Val501Ala	rs1162971941	missense variant	-	NC_000017.11:g.30209190A>G	gnomAD
SLC6A4	P31645	p.Ala505Thr	rs1384899793	missense variant	-	NC_000017.11:g.30209179C>T	TOPMed
SLC6A4	P31645	p.Ala505Val	rs200080084	missense variant	-	NC_000017.11:g.30209178G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Glu508Lys	rs750467787	missense variant	-	NC_000017.11:g.30209170C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala511Thr	rs764370121	missense variant	-	NC_000017.11:g.30209161C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala511Ser	rs764370121	missense variant	-	NC_000017.11:g.30209161C>A	ExAC,gnomAD
SLC6A4	P31645	p.Ala511Val	rs1178171471	missense variant	-	NC_000017.11:g.30209160G>A	TOPMed
SLC6A4	P31645	p.Val512Met	rs1354019846	missense variant	-	NC_000017.11:g.30209158C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Trp514Cys	rs775200271	missense variant	-	NC_000017.11:g.30209150C>A	ExAC,gnomAD
SLC6A4	P31645	p.Phe515Leu	rs759353073	missense variant	-	NC_000017.11:g.30209147G>T	ExAC,gnomAD
SLC6A4	P31645	p.Phe515Val	rs956267339	missense variant	-	NC_000017.11:g.30209149A>C	TOPMed
SLC6A4	P31645	p.Phe515Leu	rs759353073	missense variant	-	NC_000017.11:g.30209147G>C	ExAC,gnomAD
SLC6A4	P31645	p.Tyr516Cys	rs1340180605	missense variant	-	NC_000017.11:g.30209145T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Thr519Ser	rs776642079	missense variant	-	NC_000017.11:g.30207827T>A	ExAC,gnomAD
SLC6A4	P31645	p.Thr519Ala	rs776642079	missense variant	-	NC_000017.11:g.30207827T>C	ExAC,gnomAD
SLC6A4	P31645	p.Cys522Arg	rs766490168	missense variant	-	NC_000017.11:g.30207818A>G	ExAC,gnomAD
SLC6A4	P31645	p.Arg523Lys	rs1446514460	missense variant	-	NC_000017.11:g.30207814C>T	gnomAD
SLC6A4	P31645	p.Val525Met	rs772894432	missense variant	-	NC_000017.11:g.30207809C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Leu529Phe	rs544236344	missense variant	-	NC_000017.11:g.30207797G>A	1000Genomes
SLC6A4	P31645	p.Leu529Pro	rs747712449	missense variant	-	NC_000017.11:g.30207796A>G	ExAC,gnomAD
SLC6A4	P31645	p.Gly530Ser	rs374144565	missense variant	-	NC_000017.11:g.30207794C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Phe531Leu	rs1234594653	missense variant	-	NC_000017.11:g.30207791A>G	gnomAD
SLC6A4	P31645	p.Ser532Ile	rs781657921	missense variant	-	NC_000017.11:g.30207787C>A	ExAC,gnomAD
SLC6A4	P31645	p.Pro533Leu	rs201114547	missense variant	-	NC_000017.11:g.30207784G>A	ExAC,gnomAD
SLC6A4	P31645	p.Trp535Leu	rs777676943	missense variant	-	NC_000017.11:g.30207778C>A	ExAC,TOPMed
SLC6A4	P31645	p.Trp535Ter	rs777676943	stop gained	-	NC_000017.11:g.30207778C>T	ExAC,TOPMed
SLC6A4	P31645	p.Trp537Ter	rs1443264804	stop gained	-	NC_000017.11:g.30207772C>T	gnomAD
SLC6A4	P31645	p.Ile539Ser	rs1335591070	missense variant	-	NC_000017.11:g.30207766A>C	TOPMed
SLC6A4	P31645	p.Cys540Ter	rs907584878	stop gained	-	NC_000017.11:g.30207762G>T	gnomAD
SLC6A4	P31645	p.Cys540Tyr	rs558916313	missense variant	-	NC_000017.11:g.30207763C>T	1000Genomes,ExAC,gnomAD
SLC6A4	P31645	p.Trp541Ter	rs752804456	stop gained	-	NC_000017.11:g.30207759C>T	ExAC
SLC6A4	P31645	p.Val542Met	rs765500675	missense variant	-	NC_000017.11:g.30207758C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ala543Thr	rs754815105	missense variant	-	NC_000017.11:g.30207755C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile544Val	rs753742568	missense variant	-	NC_000017.11:g.30207752T>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser545Cys	rs753232412	missense variant	-	NC_000017.11:g.30207749T>A	gnomAD
SLC6A4	P31645	p.Phe548Leu	rs1350322936	missense variant	-	NC_000017.11:g.30207740A>G	gnomAD
SLC6A4	P31645	p.Leu550Val	rs28914834	missense variant	-	NC_000017.11:g.30207734G>C	UniProt,dbSNP
SLC6A4	P31645	p.Leu550Val	VAR_036790	missense variant	-	NC_000017.11:g.30207734G>C	UniProt
SLC6A4	P31645	p.Leu550Val	rs28914834	missense variant	-	NC_000017.11:g.30207734G>C	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ser555Gly	rs1180368034	missense variant	-	NC_000017.11:g.30203327T>C	gnomAD
SLC6A4	P31645	p.Ser555Thr	rs763707645	missense variant	-	NC_000017.11:g.30203326C>G	ExAC
SLC6A4	P31645	p.Met558Arg	rs762554912	missense variant	-	NC_000017.11:g.30203317A>C	ExAC,TOPMed
SLC6A4	P31645	p.Ser559Arg	rs771228274	missense variant	-	NC_000017.11:g.30203313G>T	ExAC,gnomAD
SLC6A4	P31645	p.Pro560Leu	rs1263969034	missense variant	-	NC_000017.11:g.30203311G>A	TOPMed,gnomAD
SLC6A4	P31645	p.Pro561Ser	rs773586674	missense variant	-	NC_000017.11:g.30203309G>A	ExAC,gnomAD
SLC6A4	P31645	p.Arg564Gln	rs200740988	missense variant	-	NC_000017.11:g.30203299C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg564Ter	rs1222693893	stop gained	-	NC_000017.11:g.30203300G>A	gnomAD
SLC6A4	P31645	p.Tyr568His	rs779088918	missense variant	-	NC_000017.11:g.30203288A>G	ExAC,gnomAD
SLC6A4	P31645	p.Tyr570Asn	rs768885008	missense variant	-	NC_000017.11:g.30203282A>T	ExAC
SLC6A4	P31645	p.Tyr570Phe	rs1342054504	missense variant	-	NC_000017.11:g.30203281T>A	gnomAD
SLC6A4	P31645	p.Pro571Arg	rs1278275096	missense variant	-	NC_000017.11:g.30203278G>C	gnomAD
SLC6A4	P31645	p.Trp573Gly	rs749470382	missense variant	-	NC_000017.11:g.30203273A>C	ExAC,gnomAD
SLC6A4	P31645	p.Ile576Val	rs199832478	missense variant	-	NC_000017.11:g.30203264T>C	gnomAD
SLC6A4	P31645	p.Gly578Asp	rs1458183826	missense variant	-	NC_000017.11:g.30203257C>T	TOPMed,gnomAD
SLC6A4	P31645	p.Ile581Lys	rs1349059348	missense variant	-	NC_000017.11:g.30203248A>T	gnomAD
SLC6A4	P31645	p.Phe586Leu	rs780432538	missense variant	-	NC_000017.11:g.30203234A>G	ExAC,gnomAD
SLC6A4	P31645	p.Phe586Leu	rs1233313572	missense variant	-	NC_000017.11:g.30203232G>T	TOPMed
SLC6A4	P31645	p.Ile587Leu	rs750295534	missense variant	-	NC_000017.11:g.30203231T>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile587Val	rs750295534	missense variant	-	NC_000017.11:g.30203231T>C	ExAC,gnomAD
SLC6A4	P31645	p.Pro590Leu	rs1476888015	missense variant	-	NC_000017.11:g.30203221G>A	gnomAD
SLC6A4	P31645	p.Thr591Lys	rs757262209	missense variant	-	NC_000017.11:g.30203218G>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile593Val	rs1192255974	missense variant	-	NC_000017.11:g.30203213T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Arg596Trp	rs201481838	missense variant	-	NC_000017.11:g.30203204G>A	TOPMed
SLC6A4	P31645	p.Arg596Gln	rs200544663	missense variant	-	NC_000017.11:g.30203203C>T	TOPMed
SLC6A4	P31645	p.Leu597Phe	rs762463325	missense variant	-	NC_000017.11:g.30203199C>A	ExAC,gnomAD
SLC6A4	P31645	p.Ile599Val	rs1483597826	missense variant	-	NC_000017.11:g.30203195T>C	TOPMed
SLC6A4	P31645	p.Pro601Leu	rs764936225	missense variant	-	NC_000017.11:g.30203188G>A	ExAC,gnomAD
SLC6A4	P31645	p.Pro601Ser	rs75354642	missense variant	-	NC_000017.11:g.30203189G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys605Asn	rs6352	missense variant	-	NC_000017.11:g.30203175T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys605Asn	RCV000280167	missense variant	Behavior disorder	NC_000017.11:g.30203175T>G	ClinVar
SLC6A4	P31645	p.Arg607Cys	rs200015551	missense variant	-	NC_000017.11:g.30198530G>A	ESP,ExAC,gnomAD
SLC6A4	P31645	p.Arg607His	rs757900848	missense variant	-	NC_000017.11:g.30198529C>T	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Ile608Phe	rs752261598	missense variant	-	NC_000017.11:g.30198527T>A	ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Lys610Arg	rs775165264	missense variant	-	NC_000017.11:g.30198520T>C	TOPMed,gnomAD
SLC6A4	P31645	p.Lys610Thr	rs775165264	missense variant	-	NC_000017.11:g.30198520T>G	TOPMed,gnomAD
SLC6A4	P31645	p.Lys610Glu	rs201520429	missense variant	-	NC_000017.11:g.30198521T>C	1000Genomes
SLC6A4	P31645	p.Lys610Gln	rs201520429	missense variant	-	NC_000017.11:g.30198521T>G	1000Genomes
SLC6A4	P31645	p.Ser611Thr	rs764848273	missense variant	-	NC_000017.11:g.30198517C>G	ExAC,gnomAD
SLC6A4	P31645	p.Ile612Val	rs752898241	missense variant	-	NC_000017.11:g.30198515T>C	gnomAD
SLC6A4	P31645	p.Pro617Leu	rs375913512	missense variant	-	NC_000017.11:g.30198499G>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro617Ser	rs1161007387	missense variant	-	NC_000017.11:g.30198500G>A	gnomAD
SLC6A4	P31645	p.Pro617Arg	rs375913512	missense variant	-	NC_000017.11:g.30198499G>C	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Pro621Ser	rs1380052080	missense variant	-	NC_000017.11:g.30198488G>A	gnomAD
SLC6A4	P31645	p.Gly623Arg	rs767870286	missense variant	-	NC_000017.11:g.30198482C>T	ExAC,gnomAD
SLC6A4	P31645	p.Ile625Thr	rs762095684	missense variant	-	NC_000017.11:g.30198475A>G	ExAC,gnomAD
SLC6A4	P31645	p.Arg626His	rs142441982	missense variant	-	NC_000017.11:g.30198472C>T	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg626Leu	rs142441982	missense variant	-	NC_000017.11:g.30198472C>A	ESP,ExAC,TOPMed,gnomAD
SLC6A4	P31645	p.Arg626Cys	rs774928752	missense variant	-	NC_000017.11:g.30198473G>A	ExAC,gnomAD
SLC6A4	P31645	p.Ala629Val	rs1354400366	missense variant	-	NC_000017.11:g.30198463G>A	gnomAD
SFN	P31947	p.Glu2Gln	rs927409697	missense variant	-	NC_000001.11:g.26863216G>C	gnomAD
SFN	P31947	p.Arg3Lys	rs1425894772	missense variant	-	NC_000001.11:g.26863220G>A	gnomAD
SFN	P31947	p.Ala4Thr	rs1286955504	missense variant	-	NC_000001.11:g.26863222G>A	TOPMed
SFN	P31947	p.Ala4Val	rs568265886	missense variant	-	NC_000001.11:g.26863223C>T	1000Genomes,ExAC,gnomAD
SFN	P31947	p.Ser5Asn	rs1444841133	missense variant	-	NC_000001.11:g.26863226G>A	TOPMed
SFN	P31947	p.Gln8Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.26863234C>T	NCI-TCGA
SFN	P31947	p.Gln8Arg	rs1214429299	missense variant	-	NC_000001.11:g.26863235A>G	TOPMed
SFN	P31947	p.Lys9Glu	rs765149882	missense variant	-	NC_000001.11:g.26863237A>G	ExAC,gnomAD
SFN	P31947	p.Lys11Thr	rs1269201151	missense variant	-	NC_000001.11:g.26863244A>C	TOPMed
SFN	P31947	p.Lys11Glu	rs750413218	missense variant	-	NC_000001.11:g.26863243A>G	ExAC,gnomAD
SFN	P31947	p.Ala16Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863259C>T	NCI-TCGA
SFN	P31947	p.Arg18His	rs768668023	missense variant	-	NC_000001.11:g.26863265G>A	ExAC,TOPMed,gnomAD
SFN	P31947	p.Tyr19Cys	rs1213057759	missense variant	-	NC_000001.11:g.26863268A>G	gnomAD
SFN	P31947	p.Tyr19Ter	rs1284171025	stop gained	-	NC_000001.11:g.26863269T>G	gnomAD
SFN	P31947	p.Glu20Lys	rs754674489	missense variant	-	NC_000001.11:g.26863270G>A	ExAC,TOPMed,gnomAD
SFN	P31947	p.Asp21Tyr	rs1216736508	missense variant	-	NC_000001.11:g.26863273G>T	gnomAD
SFN	P31947	p.Met22Thr	rs1244262729	missense variant	-	NC_000001.11:g.26863277T>C	gnomAD
SFN	P31947	p.Ala23Thr	rs780504299	missense variant	-	NC_000001.11:g.26863279G>A	ExAC,TOPMed,gnomAD
SFN	P31947	p.Ala23Ser	rs780504299	missense variant	-	NC_000001.11:g.26863279G>T	ExAC,TOPMed,gnomAD
SFN	P31947	p.Ala24Val	rs1399070532	missense variant	-	NC_000001.11:g.26863283C>T	TOPMed
SFN	P31947	p.Met26Arg	rs747687239	missense variant	-	NC_000001.11:g.26863289T>G	ExAC,TOPMed,gnomAD
SFN	P31947	p.Lys27Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863291A>G	NCI-TCGA
SFN	P31947	p.Ala29Thr	rs755742043	missense variant	-	NC_000001.11:g.26863297G>A	ExAC,gnomAD
SFN	P31947	p.Val30Met	rs753163340	missense variant	-	NC_000001.11:g.26863300G>A	TOPMed,gnomAD
SFN	P31947	p.Glu31Asp	rs952539380	missense variant	-	NC_000001.11:g.26863305G>T	TOPMed,gnomAD
SFN	P31947	p.Glu31Asp	COSM1296236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26863305G>C	NCI-TCGA Cosmic
SFN	P31947	p.Glu31Gln	rs368467494	missense variant	-	NC_000001.11:g.26863303G>C	ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Lys32Glu	rs187432842	missense variant	-	NC_000001.11:g.26863306A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Lys32Asn	COSM4031046	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26863308G>T	NCI-TCGA Cosmic
SFN	P31947	p.Glu34Lys	rs1244045492	missense variant	-	NC_000001.11:g.26863312G>A	gnomAD
SFN	P31947	p.Glu35Lys	rs772341113	missense variant	-	NC_000001.11:g.26863315G>A	ExAC,gnomAD
SFN	P31947	p.Glu35Gly	rs775634377	missense variant	-	NC_000001.11:g.26863316A>G	ExAC,gnomAD
SFN	P31947	p.Leu36Phe	rs1237836535	missense variant	-	NC_000001.11:g.26863318C>T	gnomAD
SFN	P31947	p.Cys38Arg	rs760725031	missense variant	-	NC_000001.11:g.26863324T>C	ExAC,gnomAD
SFN	P31947	p.Cys38Phe	rs1281832393	missense variant	-	NC_000001.11:g.26863325G>T	TOPMed
SFN	P31947	p.Glu39Lys	rs1224602073	missense variant	-	NC_000001.11:g.26863327G>A	gnomAD
SFN	P31947	p.Glu39Gly	rs764202539	missense variant	-	NC_000001.11:g.26863328A>G	ExAC,gnomAD
SFN	P31947	p.Leu44Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863342C>A	NCI-TCGA
SFN	P31947	p.Leu44His	rs773098369	missense variant	-	NC_000001.11:g.26863343T>A	ExAC,gnomAD
SFN	P31947	p.Ser45Leu	rs762900135	missense variant	-	NC_000001.11:g.26863346C>T	ExAC,TOPMed,gnomAD
SFN	P31947	p.Val46Ala	rs77608477	missense variant	-	NC_000001.11:g.26863349T>C	ExAC,TOPMed,gnomAD
SFN	P31947	p.Val46Glu	rs77608477	missense variant	-	NC_000001.11:g.26863349T>A	ExAC,TOPMed,gnomAD
SFN	P31947	p.Tyr48Cys	rs754798184	missense variant	-	NC_000001.11:g.26863355A>G	ExAC,TOPMed,gnomAD
SFN	P31947	p.Lys49Arg	rs767182909	missense variant	-	NC_000001.11:g.26863358A>G	ExAC,gnomAD
SFN	P31947	p.Asn50Lys	rs1438240956	missense variant	-	NC_000001.11:g.26863362C>A	TOPMed
SFN	P31947	p.Val51Leu	rs1379217298	missense variant	-	NC_000001.11:g.26863363G>C	gnomAD
SFN	P31947	p.Val51Glu	rs1470145884	missense variant	-	NC_000001.11:g.26863364T>A	gnomAD
SFN	P31947	p.Gly54Cys	rs752340232	missense variant	-	NC_000001.11:g.26863372G>T	ExAC,gnomAD
SFN	P31947	p.Gln55Lys	rs1411127009	missense variant	-	NC_000001.11:g.26863375C>A	gnomAD
SFN	P31947	p.Gln55His	rs1404569381	missense variant	-	NC_000001.11:g.26863377G>T	gnomAD
SFN	P31947	p.Ala57Pro	rs1230924301	missense variant	-	NC_000001.11:g.26863381G>C	TOPMed
SFN	P31947	p.Trp59Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863389G>C	NCI-TCGA
SFN	P31947	p.Ser63Pro	rs777455603	missense variant	-	NC_000001.11:g.26863399T>C	ExAC,gnomAD
SFN	P31947	p.Ser64Gly	rs1469586278	missense variant	-	NC_000001.11:g.26863402A>G	TOPMed
SFN	P31947	p.Glu66Lys	rs1444565685	missense variant	-	NC_000001.11:g.26863408G>A	gnomAD
SFN	P31947	p.Gln67Lys	rs1335263115	missense variant	-	NC_000001.11:g.26863411C>A	gnomAD
SFN	P31947	p.Ser69Asn	rs1281524630	missense variant	-	NC_000001.11:g.26863418G>A	gnomAD
SFN	P31947	p.Ser69Asn	rs1281524630	missense variant	-	NC_000001.11:g.26863418G>A	NCI-TCGA
SFN	P31947	p.Asn70Lys	rs757850238	missense variant	-	NC_000001.11:g.26863422C>A	ExAC,TOPMed,gnomAD
SFN	P31947	p.Glu71Gly	COSM3984941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26863424A>G	NCI-TCGA Cosmic
SFN	P31947	p.Glu71Lys	rs1232876831	missense variant	-	NC_000001.11:g.26863423G>A	gnomAD
SFN	P31947	p.Gly73Asp	rs779078184	missense variant	-	NC_000001.11:g.26863430G>A	ExAC,gnomAD
SFN	P31947	p.Glu76Gln	rs772373713	missense variant	-	NC_000001.11:g.26863438G>C	ExAC,TOPMed,gnomAD
SFN	P31947	p.Gly78Arg	rs780294710	missense variant	-	NC_000001.11:g.26863444G>C	ExAC,gnomAD
SFN	P31947	p.Glu80Lys	rs768674631	missense variant	-	NC_000001.11:g.26863450G>A	ExAC,TOPMed,gnomAD
SFN	P31947	p.Glu80Ter	rs768674631	stop gained	-	NC_000001.11:g.26863450G>T	ExAC,TOPMed,gnomAD
SFN	P31947	p.Val81Met	rs1331324158	missense variant	-	NC_000001.11:g.26863453G>A	TOPMed
SFN	P31947	p.Arg82His	rs923826779	missense variant	-	NC_000001.11:g.26863457G>A	TOPMed,gnomAD
SFN	P31947	p.Arg85Gln	rs1316263162	missense variant	-	NC_000001.11:g.26863466G>A	TOPMed
SFN	P31947	p.Arg85Gly	rs935169241	missense variant	-	NC_000001.11:g.26863465C>G	TOPMed
SFN	P31947	p.Glu86Lys	rs1169884128	missense variant	-	NC_000001.11:g.26863468G>A	gnomAD
SFN	P31947	p.Glu86Lys	rs1169884128	missense variant	-	NC_000001.11:g.26863468G>A	NCI-TCGA
SFN	P31947	p.Gln93Lys	rs770898389	missense variant	-	NC_000001.11:g.26863489C>A	ExAC,gnomAD
SFN	P31947	p.Val95Met	rs1338746196	missense variant	-	NC_000001.11:g.26863495G>A	gnomAD
SFN	P31947	p.Asp97Asn	rs532069878	missense variant	-	NC_000001.11:g.26863501G>A	NCI-TCGA,NCI-TCGA Cosmic
SFN	P31947	p.Asp97Asn	rs532069878	missense variant	-	NC_000001.11:g.26863501G>A	1000Genomes,ExAC,gnomAD
SFN	P31947	p.Val99Met	rs138537988	missense variant	-	NC_000001.11:g.26863507G>A	ESP,gnomAD
SFN	P31947	p.Gly101Asp	rs1251263499	missense variant	-	NC_000001.11:g.26863514G>A	gnomAD
SFN	P31947	p.Asp104His	rs1435874533	missense variant	-	NC_000001.11:g.26863522G>C	gnomAD
SFN	P31947	p.Ser105Arg	rs760421743	missense variant	-	NC_000001.11:g.26863527C>A	ExAC,gnomAD
SFN	P31947	p.His106Asn	rs371597532	missense variant	-	NC_000001.11:g.26863528C>A	ESP,TOPMed,gnomAD
SFN	P31947	p.Lys109Thr	rs1476737385	missense variant	-	NC_000001.11:g.26863538A>C	gnomAD
SFN	P31947	p.Glu110Lys	rs150754661	missense variant	-	NC_000001.11:g.26863540G>A	ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Asp113Gly	rs1184208913	missense variant	-	NC_000001.11:g.26863550A>G	TOPMed
SFN	P31947	p.Asp113Asn	rs756892225	missense variant	-	NC_000001.11:g.26863549G>A	ExAC,gnomAD
SFN	P31947	p.Asp113Asn	rs756892225	missense variant	-	NC_000001.11:g.26863549G>A	NCI-TCGA,NCI-TCGA Cosmic
SFN	P31947	p.Glu115Lys	rs375934637	missense variant	-	NC_000001.11:g.26863555G>A	ESP,TOPMed,gnomAD
SFN	P31947	p.Glu115Asp	rs779455161	missense variant	-	NC_000001.11:g.26863557G>C	ExAC,gnomAD
SFN	P31947	p.Ser116Thr	rs552239770	missense variant	-	NC_000001.11:g.26863559G>C	1000Genomes,ExAC,TOPMed,gnomAD
SFN	P31947	p.Ser116Asn	rs552239770	missense variant	-	NC_000001.11:g.26863559G>A	1000Genomes,ExAC,TOPMed,gnomAD
SFN	P31947	p.Val118Ile	rs747176654	missense variant	-	NC_000001.11:g.26863564G>A	ExAC,gnomAD
SFN	P31947	p.Val118Phe	rs747176654	missense variant	-	NC_000001.11:g.26863564G>T	ExAC,gnomAD
SFN	P31947	p.Leu121Val	rs1367921010	missense variant	-	NC_000001.11:g.26863573C>G	TOPMed
SFN	P31947	p.Met123Ile	COSM3804826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26863581G>T	NCI-TCGA Cosmic
SFN	P31947	p.Asp126Asn	rs781461664	missense variant	-	NC_000001.11:g.26863588G>A	ExAC,gnomAD
SFN	P31947	p.Arg129His	rs368924622	missense variant	-	NC_000001.11:g.26863598G>A	ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Arg129Pro	rs368924622	missense variant	-	NC_000001.11:g.26863598G>C	ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Arg129Gly	rs1230335721	missense variant	-	NC_000001.11:g.26863597C>G	TOPMed,gnomAD
SFN	P31947	p.Arg129Cys	rs1230335721	missense variant	-	NC_000001.11:g.26863597C>T	TOPMed,gnomAD
SFN	P31947	p.Ala132Asp	rs1465427902	missense variant	-	NC_000001.11:g.26863607C>A	TOPMed
SFN	P31947	p.Ala132Ser	rs201166719	missense variant	-	NC_000001.11:g.26863606G>T	1000Genomes,TOPMed
SFN	P31947	p.Glu133Lys	COSM136105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26863609G>A	NCI-TCGA Cosmic
SFN	P31947	p.Glu133Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.26863609G>T	NCI-TCGA
SFN	P31947	p.Glu133Gly	rs1282050143	missense variant	-	NC_000001.11:g.26863610A>G	TOPMed,gnomAD
SFN	P31947	p.Ala135Thr	rs1487132670	missense variant	-	NC_000001.11:g.26863615G>A	gnomAD
SFN	P31947	p.Gly137Ser	rs1430020795	missense variant	-	NC_000001.11:g.26863621G>A	TOPMed,gnomAD
SFN	P31947	p.Asp139Gly	rs1181338202	missense variant	-	NC_000001.11:g.26863628A>G	TOPMed,gnomAD
SFN	P31947	p.Asp139Glu	rs1174388676	missense variant	-	NC_000001.11:g.26863629C>A	gnomAD
SFN	P31947	p.Asp139Asn	rs778492845	missense variant	-	NC_000001.11:g.26863627G>A	ExAC,TOPMed,gnomAD
SFN	P31947	p.Lys140Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863632G>T	NCI-TCGA
SFN	P31947	p.Arg142Cys	rs1418170142	missense variant	-	NC_000001.11:g.26863636C>T	gnomAD
SFN	P31947	p.Ile144Val	rs1317136406	missense variant	-	NC_000001.11:g.26863642A>G	TOPMed
SFN	P31947	p.Ala147Val	rs1384213747	missense variant	-	NC_000001.11:g.26863652C>T	gnomAD
SFN	P31947	p.Arg148Gly	rs1384124244	missense variant	-	NC_000001.11:g.26863654C>G	gnomAD
SFN	P31947	p.Ser149Leu	rs78707984	missense variant	-	NC_000001.11:g.26863658C>T	ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Ser149Leu	rs78707984	missense variant	-	NC_000001.11:g.26863658C>T	NCI-TCGA
SFN	P31947	p.Met155Val	rs753596278	missense variant	-	NC_000001.11:g.26863675A>G	ExAC,gnomAD
SFN	P31947	p.Ile157Met	rs761357509	missense variant	-	NC_000001.11:g.26863683C>G	ExAC,gnomAD
SFN	P31947	p.Glu161Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863693G>A	NCI-TCGA
SFN	P31947	p.Glu161Asp	rs149812347	missense variant	-	NC_000001.11:g.26863695G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Glu161Asp	rs149812347	missense variant	-	NC_000001.11:g.26863695G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Met162Thr	rs1252121721	missense variant	-	NC_000001.11:g.26863697T>C	gnomAD
SFN	P31947	p.Pro163Thr	rs1255573669	missense variant	-	NC_000001.11:g.26863699C>A	TOPMed
SFN	P31947	p.Pro163Leu	rs1468889117	missense variant	-	NC_000001.11:g.26863700C>T	gnomAD
SFN	P31947	p.Thr165Ser	rs77755255	missense variant	-	NC_000001.11:g.26863705A>T	ExAC,TOPMed,gnomAD
SFN	P31947	p.Pro167Leu	rs75914997	missense variant	-	NC_000001.11:g.26863712C>T	ExAC,TOPMed,gnomAD
SFN	P31947	p.Pro167Arg	rs75914997	missense variant	-	NC_000001.11:g.26863712C>G	ExAC,TOPMed,gnomAD
SFN	P31947	p.Arg169Cys	rs202094692	missense variant	-	NC_000001.11:g.26863717C>T	1000Genomes,ExAC,TOPMed,gnomAD
SFN	P31947	p.Arg169Gly	rs202094692	missense variant	-	NC_000001.11:g.26863717C>G	1000Genomes,ExAC,TOPMed,gnomAD
SFN	P31947	p.Gly171Ser	rs1364564256	missense variant	-	NC_000001.11:g.26863723G>A	gnomAD
SFN	P31947	p.Gly171Val	rs775830382	missense variant	-	NC_000001.11:g.26863724G>T	ExAC,TOPMed,gnomAD
SFN	P31947	p.Gly171Ala	rs775830382	missense variant	-	NC_000001.11:g.26863724G>C	ExAC,TOPMed,gnomAD
SFN	P31947	p.Leu172Gln	COSM1341444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26863727T>A	NCI-TCGA Cosmic
SFN	P31947	p.Phe176Val	rs745760220	missense variant	-	NC_000001.11:g.26863738T>G	ExAC
SFN	P31947	p.Val178Gly	rs775634605	missense variant	-	NC_000001.11:g.26863745T>G	ExAC,gnomAD
SFN	P31947	p.Val178Ile	rs771907479	missense variant	-	NC_000001.11:g.26863744G>A	ExAC,gnomAD
SFN	P31947	p.Phe179Tyr	rs746785587	missense variant	-	NC_000001.11:g.26863748T>A	ExAC,TOPMed,gnomAD
SFN	P31947	p.Glu182Lys	rs1450787410	missense variant	-	NC_000001.11:g.26863756G>A	TOPMed,gnomAD
SFN	P31947	p.Glu182Gly	rs1318405070	missense variant	-	NC_000001.11:g.26863757A>G	gnomAD
SFN	P31947	p.Glu182Asp	rs1242119597	missense variant	-	NC_000001.11:g.26863758G>C	gnomAD
SFN	P31947	p.Ala184Thr	rs776384378	missense variant	-	NC_000001.11:g.26863762G>A	ExAC,TOPMed,gnomAD
SFN	P31947	p.Ala184Ser	rs776384378	missense variant	-	NC_000001.11:g.26863762G>T	ExAC,TOPMed,gnomAD
SFN	P31947	p.Asn185Ser	rs965426042	missense variant	-	NC_000001.11:g.26863766A>G	TOPMed
SFN	P31947	p.Ser186Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863770C>G	NCI-TCGA
SFN	P31947	p.Glu188Lys	rs761394832	missense variant	-	NC_000001.11:g.26863774G>A	ExAC,gnomAD
SFN	P31947	p.Glu188Val	rs764746422	missense variant	-	NC_000001.11:g.26863775A>T	ExAC,gnomAD
SFN	P31947	p.Ile191Val	rs568387371	missense variant	-	NC_000001.11:g.26863783A>G	1000Genomes,ExAC,TOPMed,gnomAD
SFN	P31947	p.Ala194Thr	rs762595295	missense variant	-	NC_000001.11:g.26863792G>A	ExAC,gnomAD
SFN	P31947	p.Thr196Ser	rs1232444148	missense variant	-	NC_000001.11:g.26863799C>G	TOPMed
SFN	P31947	p.Thr197Ala	rs766860880	missense variant	-	NC_000001.11:g.26863801A>G	ExAC,gnomAD
SFN	P31947	p.Asp199Val	rs1383657566	missense variant	-	NC_000001.11:g.26863808A>T	TOPMed,gnomAD
SFN	P31947	p.Asp199His	rs1186073578	missense variant	-	NC_000001.11:g.26863807G>C	gnomAD
SFN	P31947	p.Glu200Lys	rs1486267642	missense variant	-	NC_000001.11:g.26863810G>A	TOPMed
SFN	P31947	p.Ala203Thr	rs1417669561	missense variant	-	NC_000001.11:g.26863819G>A	gnomAD
SFN	P31947	p.Asp204Asn	COSM680162	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26863822G>A	NCI-TCGA Cosmic
SFN	P31947	p.Leu205Val	rs1206948680	missense variant	-	NC_000001.11:g.26863825C>G	TOPMed
SFN	P31947	p.His206Tyr	rs1462232360	missense variant	-	NC_000001.11:g.26863828C>T	TOPMed,gnomAD
SFN	P31947	p.Thr207Ala	rs1488099786	missense variant	-	NC_000001.11:g.26863831A>G	TOPMed
SFN	P31947	p.Ser209Arg	rs756298691	missense variant	-	NC_000001.11:g.26863839C>A	ExAC,gnomAD
SFN	P31947	p.Ser209Arg	rs752911202	missense variant	-	NC_000001.11:g.26863837A>C	ExAC,gnomAD
SFN	P31947	p.Glu210Lys	rs777841410	missense variant	-	NC_000001.11:g.26863840G>A	ExAC,gnomAD
SFN	P31947	p.Glu210Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.26863840G>T	NCI-TCGA
SFN	P31947	p.Asp215Asn	rs1285899313	missense variant	-	NC_000001.11:g.26863855G>A	gnomAD
SFN	P31947	p.Asp215Glu	rs1393982955	missense variant	-	NC_000001.11:g.26863857C>G	gnomAD
SFN	P31947	p.Ser216Gly	rs757413612	missense variant	-	NC_000001.11:g.26863858A>G	ExAC,gnomAD
SFN	P31947	p.Thr217Ile	rs1431911960	missense variant	-	NC_000001.11:g.26863862C>T	TOPMed
SFN	P31947	p.Leu218Val	rs1030897040	missense variant	-	NC_000001.11:g.26863864C>G	TOPMed,gnomAD
SFN	P31947	p.Leu218Phe	rs1030897040	missense variant	-	NC_000001.11:g.26863864C>T	TOPMed,gnomAD
SFN	P31947	p.Ile219Met	rs1364859549	missense variant	-	NC_000001.11:g.26863869C>G	TOPMed
SFN	P31947	p.Met220SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26863869_26863872CATG>-	NCI-TCGA
SFN	P31947	p.Gln221Arg	rs746975829	missense variant	-	NC_000001.11:g.26863874A>G	ExAC,gnomAD
SFN	P31947	p.Leu222Met	rs1306901123	missense variant	-	NC_000001.11:g.26863876C>A	gnomAD
SFN	P31947	p.Arg224Gln	rs776580736	missense variant	-	NC_000001.11:g.26863883G>A	ExAC,gnomAD
SFN	P31947	p.Asp225Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863885G>A	NCI-TCGA
SFN	P31947	p.Thr228Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863894A>G	NCI-TCGA
SFN	P31947	p.Thr228Ile	rs1454934500	missense variant	-	NC_000001.11:g.26863895C>T	TOPMed
SFN	P31947	p.Thr231Arg	rs745925685	missense variant	-	NC_000001.11:g.26863904C>G	gnomAD
SFN	P31947	p.Asp233Glu	rs769330167	missense variant	-	NC_000001.11:g.26863911C>A	ExAC,gnomAD
SFN	P31947	p.Ala235Thr	rs1417773375	missense variant	-	NC_000001.11:g.26863915G>A	gnomAD
SFN	P31947	p.Gly236Arg	rs369790436	missense variant	-	NC_000001.11:g.26863918G>A	ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Glu238Asp	rs765911499	missense variant	-	NC_000001.11:g.26863926G>C	ExAC,TOPMed,gnomAD
SFN	P31947	p.Gly239Val	rs376687682	missense variant	-	NC_000001.11:g.26863928G>T	ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Gly239Arg	rs915043131	missense variant	-	NC_000001.11:g.26863927G>A	TOPMed
SFN	P31947	p.Gly240Ser	rs1416223429	missense variant	-	NC_000001.11:g.26863930G>A	gnomAD
SFN	P31947	p.Glu241Lys	rs753008567	missense variant	-	NC_000001.11:g.26863933G>A	NCI-TCGA,NCI-TCGA Cosmic
SFN	P31947	p.Glu241Lys	rs753008567	missense variant	-	NC_000001.11:g.26863933G>A	ExAC,gnomAD
SFN	P31947	p.Pro243Ala	rs1215149660	missense variant	-	NC_000001.11:g.26863939C>G	gnomAD
SFN	P31947	p.Gln244His	rs1297564385	missense variant	-	NC_000001.11:g.26863944G>T	gnomAD
SFN	P31947	p.Gln244Ter	rs968862899	stop gained	-	NC_000001.11:g.26863942C>T	TOPMed
SFN	P31947	p.Glu245Lys	COSM4400725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26863945G>A	NCI-TCGA Cosmic
SFN	P31947	p.Glu245Asp	rs1208755675	missense variant	-	NC_000001.11:g.26863947G>T	gnomAD
SFN	P31947	p.Glu245Gln	rs761167385	missense variant	-	NC_000001.11:g.26863945G>C	ExAC,gnomAD
SFN	P31947	p.Pro246Leu	rs191803556	missense variant	-	NC_000001.11:g.26863949C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SFN	P31947	p.Gln247Arg	rs1242069424	missense variant	-	NC_000001.11:g.26863952A>G	TOPMed,gnomAD
SFN	P31947	p.Gln247His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26863953G>C	NCI-TCGA
SFN	P31947	p.Ter249Ser	rs757373679	stop lost	-	NC_000001.11:g.26863958G>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg2Gly	rs1278966703	missense variant	-	NC_000003.12:g.134250651G>C	TOPMed
RYK	P34925	p.Ala4Ter	RCV000202926	frameshift	-	NC_000003.12:g.134250648dup	ClinVar
RYK	P34925	p.Ala5Val	rs1294884874	missense variant	-	NC_000003.12:g.134250641G>A	gnomAD
RYK	P34925	p.Ala5Ser	rs1305870665	missense variant	-	NC_000003.12:g.134250642C>A	gnomAD
RYK	P34925	p.Ala5Glu	rs1294884874	missense variant	-	NC_000003.12:g.134250641G>T	gnomAD
RYK	P34925	p.Arg6Trp	rs1229506983	missense variant	-	NC_000003.12:g.134250639G>A	TOPMed,gnomAD
RYK	P34925	p.Leu7Arg	rs1232069643	missense variant	-	NC_000003.12:g.134250635A>C	TOPMed
RYK	P34925	p.Gly8Arg	rs1289705971	missense variant	-	NC_000003.12:g.134250633C>G	TOPMed
RYK	P34925	p.Arg9Gln	rs1338534575	missense variant	-	NC_000003.12:g.134250629C>T	gnomAD
RYK	P34925	p.Pro10Ala	rs1452561934	missense variant	-	NC_000003.12:g.134250627G>C	TOPMed
RYK	P34925	p.Gly11Asp	rs1450164129	missense variant	-	NC_000003.12:g.134250623C>T	gnomAD
RYK	P34925	p.Arg12Gly	rs1313860316	missense variant	-	NC_000003.12:g.134250621G>C	TOPMed,gnomAD
RYK	P34925	p.Cys14Ser	rs1404958438	missense variant	-	NC_000003.12:g.134250614C>G	gnomAD
RYK	P34925	p.Leu15Phe	rs1331567029	missense variant	-	NC_000003.12:g.134250612G>A	gnomAD
RYK	P34925	p.Pro16Leu	rs1487126898	missense variant	-	NC_000003.12:g.134250608G>A	TOPMed
RYK	P34925	p.Gly17Arg	rs1463159977	missense variant	-	NC_000003.12:g.134250606C>T	gnomAD
RYK	P34925	p.Ala18Gly	rs1169056362	missense variant	-	NC_000003.12:g.134250602G>C	gnomAD
RYK	P34925	p.Ala18Pro	rs1423800183	missense variant	-	NC_000003.12:g.134250603C>G	TOPMed
RYK	P34925	p.Ala18Ser	rs1423800183	missense variant	-	NC_000003.12:g.134250603C>A	TOPMed
RYK	P34925	p.Arg19Gly	rs1390488964	missense variant	-	NC_000003.12:g.134250600G>C	gnomAD
RYK	P34925	p.Gly20Asp	rs888348728	missense variant	-	NC_000003.12:g.134250596C>T	TOPMed,gnomAD
RYK	P34925	p.Gly20Val	rs888348728	missense variant	-	NC_000003.12:g.134250596C>A	TOPMed,gnomAD
RYK	P34925	p.Gly20Ala	rs888348728	missense variant	-	NC_000003.12:g.134250596C>G	TOPMed,gnomAD
RYK	P34925	p.Leu21Pro	rs1412920962	missense variant	-	NC_000003.12:g.134250593A>G	TOPMed
RYK	P34925	p.Arg22Met	rs1182184174	missense variant	-	NC_000003.12:g.134250590C>A	gnomAD
RYK	P34925	p.Ala23Val	rs1461124995	missense variant	-	NC_000003.12:g.134250587G>A	gnomAD
RYK	P34925	p.Pro24Gln	rs1479746276	missense variant	-	NC_000003.12:g.134250584G>T	TOPMed,gnomAD
RYK	P34925	p.Pro24Thr	rs1197798404	missense variant	-	NC_000003.12:g.134250585G>T	gnomAD
RYK	P34925	p.Pro24Leu	rs1479746276	missense variant	-	NC_000003.12:g.134250584G>A	TOPMed,gnomAD
RYK	P34925	p.Pro27Ser	rs1343195961	missense variant	-	NC_000003.12:g.134250576G>A	TOPMed
RYK	P34925	p.Pro27Leu	rs1399686940	missense variant	-	NC_000003.12:g.134250575G>A	TOPMed
RYK	P34925	p.Pro28Gln	rs1317042228	missense variant	-	NC_000003.12:g.134250572G>T	TOPMed,gnomAD
RYK	P34925	p.Pro28Leu	rs1317042228	missense variant	-	NC_000003.12:g.134250572G>A	TOPMed,gnomAD
RYK	P34925	p.Ala34Val	rs1309645126	missense variant	-	NC_000003.12:g.134250554G>A	gnomAD
RYK	P34925	p.Leu35Met	rs1215452690	missense variant	-	NC_000003.12:g.134250552G>T	TOPMed
RYK	P34925	p.Pro37Ser	rs1488999289	missense variant	-	NC_000003.12:g.134250546G>A	TOPMed
RYK	P34925	p.Leu38Met	rs1184730336	missense variant	-	NC_000003.12:g.134250543G>T	TOPMed
RYK	P34925	p.Pro40Ala	rs775525703	missense variant	-	NC_000003.12:g.134250537G>C	ExAC,gnomAD
RYK	P34925	p.Pro42Ser	rs1393877344	missense variant	-	NC_000003.12:g.134250531G>A	TOPMed,gnomAD
RYK	P34925	p.Pro42Leu	rs1164911896	missense variant	-	NC_000003.12:g.134250530G>A	TOPMed
RYK	P34925	p.Pro42Thr	rs1393877344	missense variant	-	NC_000003.12:g.134250531G>T	TOPMed,gnomAD
RYK	P34925	p.Gly43Cys	rs1297164477	missense variant	-	NC_000003.12:g.134250528C>A	gnomAD
RYK	P34925	p.Ala44Ser	rs1368050360	missense variant	-	NC_000003.12:g.134250525C>A	gnomAD
RYK	P34925	p.Ala45Thr	rs1046950800	missense variant	-	NC_000003.12:g.134250522C>T	TOPMed,gnomAD
RYK	P34925	p.Ala45Val	rs1444512773	missense variant	-	NC_000003.12:g.134250521G>A	gnomAD
RYK	P34925	p.Ala45Ser	rs1046950800	missense variant	-	NC_000003.12:g.134250522C>A	TOPMed,gnomAD
RYK	P34925	p.Ala46Ser	rs1184340310	missense variant	-	NC_000003.12:g.134250519C>A	gnomAD
RYK	P34925	p.Ala46Val	rs772198299	missense variant	-	NC_000003.12:g.134250518G>A	ExAC
RYK	P34925	p.Ala46Thr	rs1184340310	missense variant	-	NC_000003.12:g.134250519C>T	gnomAD
RYK	P34925	p.Ala47Val	rs1210558103	missense variant	-	NC_000003.12:g.134250515G>A	gnomAD
RYK	P34925	p.Ala47Ser	rs1250064212	missense variant	-	NC_000003.12:g.134250516C>A	gnomAD
RYK	P34925	p.Ala47Asp	rs1210558103	missense variant	-	NC_000003.12:g.134250515G>T	gnomAD
RYK	P34925	p.Ala47Thr	rs1250064212	missense variant	-	NC_000003.12:g.134250516C>T	gnomAD
RYK	P34925	p.Pro48Ala	rs536406334	missense variant	-	NC_000003.12:g.134250513G>C	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Pro48His	rs567577474	missense variant	-	NC_000003.12:g.134250512G>T	1000Genomes,gnomAD
RYK	P34925	p.Pro48Ser	rs536406334	missense variant	-	NC_000003.12:g.134250513G>A	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Pro48Leu	rs567577474	missense variant	-	NC_000003.12:g.134250512G>A	1000Genomes,gnomAD
RYK	P34925	p.Pro50Ser	rs916328916	missense variant	-	NC_000003.12:g.134250507G>A	TOPMed
RYK	P34925	p.Pro50Thr	rs916328916	missense variant	-	NC_000003.12:g.134250507G>T	TOPMed
RYK	P34925	p.Arg51Trp	rs201505334	missense variant	-	NC_000003.12:g.134250504G>A	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg51Gln	rs1240906983	missense variant	-	NC_000003.12:g.134250503C>T	gnomAD
RYK	P34925	p.Pro52Ser	rs936148294	missense variant	-	NC_000003.12:g.134250501G>A	TOPMed,gnomAD
RYK	P34925	p.Pro52Thr	rs936148294	missense variant	-	NC_000003.12:g.134250501G>T	TOPMed,gnomAD
RYK	P34925	p.Pro53Ala	rs564758389	missense variant	-	NC_000003.12:g.134250498G>C	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Pro53Leu	rs1300679361	missense variant	-	NC_000003.12:g.134250497G>A	TOPMed,gnomAD
RYK	P34925	p.Pro53Gln	rs1300679361	missense variant	-	NC_000003.12:g.134250497G>T	TOPMed,gnomAD
RYK	P34925	p.Pro53Ser	rs564758389	missense variant	-	NC_000003.12:g.134250498G>A	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Glu54Asp	rs1178976390	missense variant	-	NC_000003.12:g.134250493C>A	TOPMed
RYK	P34925	p.Gln56Lys	rs1361727233	missense variant	-	NC_000003.12:g.134250489G>T	gnomAD
RYK	P34925	p.Ala58Val	rs1452045857	missense variant	-	NC_000003.12:g.134250482G>A	TOPMed,gnomAD
RYK	P34925	p.Ser59Phe	rs769533417	missense variant	-	NC_000003.12:g.134250479G>A	ExAC,gnomAD
RYK	P34925	p.Ser59Pro	rs1321756558	missense variant	-	NC_000003.12:g.134250480A>G	gnomAD
RYK	P34925	p.Gly61Val	rs747854482	missense variant	-	NC_000003.12:g.134250473C>A	ExAC,gnomAD
RYK	P34925	p.Gly61Trp	rs1199887047	missense variant	-	NC_000003.12:g.134250474C>A	gnomAD
RYK	P34925	p.Gly61Glu	rs747854482	missense variant	-	NC_000003.12:g.134250473C>T	ExAC,gnomAD
RYK	P34925	p.Val64Met	rs780639254	missense variant	-	NC_000003.12:g.134250465C>T	ExAC,gnomAD
RYK	P34925	p.Ser65Gly	rs1206715445	missense variant	-	NC_000003.12:g.134250462T>C	gnomAD
RYK	P34925	p.Ser65Ile	rs1348316728	missense variant	-	NC_000003.12:g.134250461C>A	gnomAD
RYK	P34925	p.Asp71Glu	rs1416189775	missense variant	-	NC_000003.12:g.134250442G>C	TOPMed
RYK	P34925	p.Glu72Lys	rs1223765587	missense variant	-	NC_000003.12:g.134250441C>T	gnomAD
RYK	P34925	p.Leu76Val	rs1280884179	missense variant	-	NC_000003.12:g.134250429G>C	gnomAD
RYK	P34925	p.Gly78Arg	rs1341732813	missense variant	-	NC_000003.12:g.134250423C>G	gnomAD
RYK	P34925	p.Asp80Asn	rs767622724	missense variant	-	NC_000003.12:g.134222534C>T	ExAC,gnomAD
RYK	P34925	p.Glu82Lys	rs1336357951	missense variant	-	NC_000003.12:g.134222528C>T	gnomAD
RYK	P34925	p.Leu83Pro	rs759712382	missense variant	-	NC_000003.12:g.134222524A>G	ExAC,gnomAD
RYK	P34925	p.Tyr84His	rs770960652	missense variant	-	NC_000003.12:g.134222522A>G	ExAC,gnomAD
RYK	P34925	p.Tyr85Phe	rs1474423396	missense variant	-	NC_000003.12:g.134222518T>A	gnomAD
RYK	P34925	p.Val86Leu	rs762904245	missense variant	-	NC_000003.12:g.134222516C>A	ExAC,gnomAD
RYK	P34925	p.Asn88Lys	rs1481820792	missense variant	-	NC_000003.12:g.134222508A>T	TOPMed
RYK	P34925	p.Asn88Ser	rs773079994	missense variant	-	NC_000003.12:g.134222509T>C	ExAC,gnomAD
RYK	P34925	p.Asp89Glu	rs769577524	missense variant	-	NC_000003.12:g.134222505G>T	ExAC,gnomAD
RYK	P34925	p.Leu90Phe	rs1240991415	missense variant	-	NC_000003.12:g.134222504G>A	gnomAD
RYK	P34925	p.Ile91Val	rs1431937807	missense variant	-	NC_000003.12:g.134222501T>C	gnomAD
RYK	P34925	p.Ser92Gly	rs747886580	missense variant	-	NC_000003.12:g.134222498T>C	ExAC,gnomAD
RYK	P34925	p.Ser92Ile	rs780952902	missense variant	-	NC_000003.12:g.134222497C>A	ExAC,gnomAD
RYK	P34925	p.Leu96Val	rs1339367013	missense variant	-	NC_000003.12:g.134222486G>C	gnomAD
RYK	P34925	p.Ser97Cys	rs374574792	missense variant	-	NC_000003.12:g.134222482G>C	ESP,ExAC,gnomAD
RYK	P34925	p.Ser99Asn	rs1131262	missense variant	-	NC_000003.12:g.134222476C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Ser99Asn	rs1131262	missense variant	-	NC_000003.12:g.134222476C>T	UniProt,dbSNP
RYK	P34925	p.Ser99Asn	VAR_041800	missense variant	-	NC_000003.12:g.134222476C>T	UniProt
RYK	P34925	p.Ser99Ile	rs1131262	missense variant	-	NC_000003.12:g.134222476C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Leu100Val	rs778421089	missense variant	-	NC_000003.12:g.134222474G>C	ExAC,gnomAD
RYK	P34925	p.Pro103Ser	rs560711450	missense variant	-	NC_000003.12:g.134222465G>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Leu109Val	rs755189493	missense variant	-	NC_000003.12:g.134222447G>C	ExAC,gnomAD
RYK	P34925	p.Thr112Ile	rs766463990	missense variant	-	NC_000003.12:g.134222437G>A	ExAC,gnomAD
RYK	P34925	p.Thr112Ala	rs751733843	missense variant	-	NC_000003.12:g.134222438T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Trp113Arg	rs1396314718	missense variant	-	NC_000003.12:g.134222435A>G	TOPMed
RYK	P34925	p.Ala115Val	rs1426715457	missense variant	-	NC_000003.12:g.134222428G>A	TOPMed
RYK	P34925	p.Lys118Glu	rs1373486374	missense variant	-	NC_000003.12:g.134222420T>C	TOPMed
RYK	P34925	p.Glu120Val	rs1376741818	missense variant	-	NC_000003.12:g.134211603T>A	TOPMed
RYK	P34925	p.Glu120Lys	rs1329760899	missense variant	-	NC_000003.12:g.134211604C>T	TOPMed
RYK	P34925	p.Lys122Glu	rs755315490	missense variant	-	NC_000003.12:g.134211598T>C	ExAC,gnomAD
RYK	P34925	p.Lys122Asn	rs1409842951	missense variant	-	NC_000003.12:g.134211596C>G	gnomAD
RYK	P34925	p.Gly124Val	rs751788725	missense variant	-	NC_000003.12:g.134211591C>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Gly124Ala	rs751788725	missense variant	-	NC_000003.12:g.134211591C>G	ExAC,TOPMed,gnomAD
RYK	P34925	p.Gly124Glu	rs751788725	missense variant	-	NC_000003.12:g.134211591C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Phe125Leu	rs1281843637	missense variant	-	NC_000003.12:g.134211587G>C	TOPMed
RYK	P34925	p.Gln126Glu	rs371293491	missense variant	-	NC_000003.12:g.134211586G>C	ESP,TOPMed
RYK	P34925	p.Val127Ala	rs1263951826	missense variant	-	NC_000003.12:g.134211582A>G	TOPMed
RYK	P34925	p.Val127Met	rs577109506	missense variant	-	NC_000003.12:g.134211583C>T	1000Genomes,ExAC,gnomAD
RYK	P34925	p.Val130Ala	rs758526926	missense variant	-	NC_000003.12:g.134211573A>G	ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala132Ser	rs367816834	missense variant	-	NC_000003.12:g.134211568C>A	ESP,TOPMed
RYK	P34925	p.Met133Val	rs750477962	missense variant	-	NC_000003.12:g.134211565T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Met135Ile	rs1217002650	missense variant	-	NC_000003.12:g.134211557C>T	gnomAD
RYK	P34925	p.Met135Val	rs765257118	missense variant	-	NC_000003.12:g.134211559T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Pro136Ser	rs941264136	missense variant	-	NC_000003.12:g.134211556G>A	TOPMed
RYK	P34925	p.Gln137Leu	rs1319134701	missense variant	-	NC_000003.12:g.134211552T>A	gnomAD
RYK	P34925	p.Ile140Met	rs761686729	missense variant	-	NC_000003.12:g.134211542A>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Val142Ile	rs776580145	missense variant	-	NC_000003.12:g.134211538C>T	ExAC,gnomAD
RYK	P34925	p.Gln143Arg	rs763809419	missense variant	-	NC_000003.12:g.134211534T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Gln143Leu	rs763809419	missense variant	-	NC_000003.12:g.134211534T>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Glu145Lys	rs1168899159	missense variant	-	NC_000003.12:g.134211529C>T	TOPMed
RYK	P34925	p.Arg148Cys	rs374496055	missense variant	-	NC_000003.12:g.134211520G>A	ESP,TOPMed
RYK	P34925	p.Arg148His	rs372371526	missense variant	-	NC_000003.12:g.134211519C>T	ESP,TOPMed,gnomAD
RYK	P34925	p.Leu150Ser	rs1343609127	missense variant	-	NC_000003.12:g.134211513A>G	gnomAD
RYK	P34925	p.Arg154Trp	rs1322947036	missense variant	-	NC_000003.12:g.134209824G>A	gnomAD
RYK	P34925	p.Arg154Gln	rs529845968	missense variant	-	NC_000003.12:g.134209823C>T	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Val155Leu	rs750600911	missense variant	-	NC_000003.12:g.134209821C>A	ExAC,gnomAD
RYK	P34925	p.Lys162Gln	rs1251334583	missense variant	-	NC_000003.12:g.134209800T>G	TOPMed
RYK	P34925	p.Val167Ile	rs149986169	missense variant	-	NC_000003.12:g.134209785C>T	1000Genomes,ExAC,gnomAD
RYK	P34925	p.Met168Thr	rs1338325945	missense variant	-	NC_000003.12:g.134209781A>G	TOPMed,gnomAD
RYK	P34925	p.Met168Val	rs753723548	missense variant	-	NC_000003.12:g.134209782T>C	ExAC,gnomAD
RYK	P34925	p.Met168Lys	rs1338325945	missense variant	-	NC_000003.12:g.134209781A>T	TOPMed,gnomAD
RYK	P34925	p.Met171Thr	rs764088042	missense variant	-	NC_000003.12:g.134209772A>G	ExAC,gnomAD
RYK	P34925	p.Met171Val	rs959319395	missense variant	-	NC_000003.12:g.134209773T>C	TOPMed
RYK	P34925	p.Thr176Ser	rs752511351	missense variant	-	NC_000003.12:g.134209758T>A	ExAC,gnomAD
RYK	P34925	p.Val177Glu	rs564509399	missense variant	-	NC_000003.12:g.134209754A>T	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Ser179Thr	rs1480417718	missense variant	-	NC_000003.12:g.134209749A>T	gnomAD
RYK	P34925	p.Ser180Ter	rs1379240286	stop gained	-	NC_000003.12:g.134209745G>T	TOPMed
RYK	P34925	p.Val185Ile	rs544716970	missense variant	-	NC_000003.12:g.134209731C>T	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg190Ter	rs1460990813	stop gained	-	NC_000003.12:g.134209716G>A	gnomAD
RYK	P34925	p.Arg190Gln	rs576123283	missense variant	-	NC_000003.12:g.134209715C>T	1000Genomes,ExAC,gnomAD
RYK	P34925	p.Met193Val	rs140598974	missense variant	-	NC_000003.12:g.134209707T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Met193Ile	rs944416131	missense variant	-	NC_000003.12:g.134209705C>T	TOPMed,gnomAD
RYK	P34925	p.Tyr195Phe	rs1227519319	missense variant	-	NC_000003.12:g.134209700T>A	TOPMed,gnomAD
RYK	P34925	p.Tyr195Cys	rs1227519319	missense variant	-	NC_000003.12:g.134209700T>C	TOPMed,gnomAD
RYK	P34925	p.Glu200Gly	rs1251492030	missense variant	-	NC_000003.12:g.134207516T>C	gnomAD
RYK	P34925	p.Thr203Ser	rs1179069104	missense variant	-	NC_000003.12:g.134207508T>A	gnomAD
RYK	P34925	p.Leu206Ser	rs546676972	missense variant	-	NC_000003.12:g.134207498A>G	1000Genomes
RYK	P34925	p.Thr210Ser	rs1273942929	missense variant	-	NC_000003.12:g.134207486G>C	gnomAD
RYK	P34925	p.Val218Ala	rs1261036635	missense variant	-	NC_000003.12:g.134202865A>G	gnomAD
RYK	P34925	p.His219Leu	rs767435817	missense variant	-	NC_000003.12:g.134202862T>A	ExAC,gnomAD
RYK	P34925	p.His219Tyr	rs1240752465	missense variant	-	NC_000003.12:g.134202863G>A	gnomAD
RYK	P34925	p.Ala221Val	rs759341783	missense variant	-	NC_000003.12:g.134202856G>A	ExAC,gnomAD
RYK	P34925	p.Ala221Pro	rs1287232009	missense variant	-	NC_000003.12:g.134202857C>G	TOPMed,gnomAD
RYK	P34925	p.Pro222Ala	rs1469564053	missense variant	-	NC_000003.12:g.134202854G>C	gnomAD
RYK	P34925	p.Ser225Cys	rs1347981637	missense variant	-	NC_000003.12:g.134202844G>C	gnomAD
RYK	P34925	p.Thr226Ala	rs1452106632	missense variant	-	NC_000003.12:g.134202842T>C	TOPMed
RYK	P34925	p.Thr226Met	rs1386653374	missense variant	-	NC_000003.12:g.134202841G>A	gnomAD
RYK	P34925	p.Arg227Gly	rs55740278	missense variant	-	NC_000003.12:g.134202839G>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg227His	rs374337304	missense variant	-	NC_000003.12:g.134202838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg227Cys	rs55740278	missense variant	-	NC_000003.12:g.134202839G>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg227Cys	rs55740278	missense variant	-	NC_000003.12:g.134202839G>A	UniProt,dbSNP
RYK	P34925	p.Arg227Cys	VAR_041801	missense variant	-	NC_000003.12:g.134202839G>A	UniProt
RYK	P34925	p.Ile231Val	rs769251135	missense variant	-	NC_000003.12:g.134202827T>C	ExAC,gnomAD
RYK	P34925	p.Ser232Thr	rs896307212	missense variant	-	NC_000003.12:g.134202823C>G	TOPMed
RYK	P34925	p.Val233Ile	rs1054992735	missense variant	-	NC_000003.12:g.134202821C>T	TOPMed
RYK	P34925	p.Ala238Thr	rs775915422	missense variant	-	NC_000003.12:g.134202806C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Val243Ile	rs746238409	missense variant	-	NC_000003.12:g.134202791C>T	UniProt,dbSNP
RYK	P34925	p.Val243Ile	VAR_041802	missense variant	-	NC_000003.12:g.134202791C>T	UniProt
RYK	P34925	p.Val243Ile	rs746238409	missense variant	-	NC_000003.12:g.134202791C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala244Val	rs1262249876	missense variant	-	NC_000003.12:g.134202787G>A	gnomAD
RYK	P34925	p.Ala244Thr	rs572311608	missense variant	-	NC_000003.12:g.134202788C>T	1000Genomes,ExAC,gnomAD
RYK	P34925	p.Ile245Met	rs771153726	missense variant	-	NC_000003.12:g.134202783T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Val249Ala	rs1463309681	missense variant	-	NC_000003.12:g.134202772A>G	gnomAD
RYK	P34925	p.Leu250Phe	rs1267068034	missense variant	-	NC_000003.12:g.134202768C>A	TOPMed,gnomAD
RYK	P34925	p.His253Leu	rs1325096617	missense variant	-	NC_000003.12:g.134202760T>A	TOPMed,gnomAD
RYK	P34925	p.His253Arg	rs1325096617	missense variant	-	NC_000003.12:g.134202760T>C	TOPMed,gnomAD
RYK	P34925	p.His253Asn	rs1470775833	missense variant	-	NC_000003.12:g.134202761G>T	TOPMed
RYK	P34925	p.Ser254Asn	rs191818784	missense variant	-	NC_000003.12:g.134202757C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Met255Val	rs756207481	missense variant	-	NC_000003.12:g.134202755T>C	ExAC,gnomAD
RYK	P34925	p.Arg257Lys	rs1380863659	missense variant	-	NC_000003.12:g.134202748C>T	gnomAD
RYK	P34925	p.Asp262Glu	rs748104065	missense variant	-	NC_000003.12:g.134202732G>C	ExAC,gnomAD
RYK	P34925	p.Ser263Gly	rs1471046127	missense variant	-	NC_000003.12:g.134202731T>C	gnomAD
RYK	P34925	p.Ile264Val	rs746877198	missense variant	-	NC_000003.12:g.134195181T>C	ExAC,gnomAD
RYK	P34925	p.Ser268Thr	rs201031716	missense variant	-	NC_000003.12:g.134195168C>G	ESP,ExAC,gnomAD
RYK	P34925	p.Ser268Gly	rs1453748443	missense variant	-	NC_000003.12:g.134195169T>C	TOPMed
RYK	P34925	p.Ser268Asn	rs201031716	missense variant	-	NC_000003.12:g.134195168C>T	ESP,ExAC,gnomAD
RYK	P34925	p.Ser270Thr	rs1342072295	missense variant	-	NC_000003.12:g.134195163A>T	gnomAD
RYK	P34925	p.Gly272Val	rs756817652	missense variant	-	NC_000003.12:g.134195156C>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Pro276Ser	rs1475757264	missense variant	-	NC_000003.12:g.134195145G>A	TOPMed
RYK	P34925	p.Thr280Met	rs139935782	missense variant	-	NC_000003.12:g.134195132G>A	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Thr280Ala	rs760112370	missense variant	-	NC_000003.12:g.134195133T>C	ExAC,gnomAD
RYK	P34925	p.Thr280Lys	rs139935782	missense variant	-	NC_000003.12:g.134195132G>T	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Gln282Arg	rs1444201618	missense variant	-	NC_000003.12:g.134195126T>C	TOPMed
RYK	P34925	p.Tyr283Cys	rs540032918	missense variant	-	NC_000003.12:g.134195123T>C	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala286Val	rs773630873	missense variant	-	NC_000003.12:g.134195114G>A	ExAC,gnomAD
RYK	P34925	p.Thr288Met	rs748273875	missense variant	-	NC_000003.12:g.134195108G>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Thr288Arg	rs748273875	missense variant	-	NC_000003.12:g.134195108G>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Thr293Ala	rs180735733	missense variant	-	NC_000003.12:g.134195094T>C	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Thr293Ile	rs1344560774	missense variant	-	NC_000003.12:g.134195093G>A	TOPMed
RYK	P34925	p.Ile295Val	rs768567317	missense variant	-	NC_000003.12:g.134195088T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Tyr298Cys	rs766785792	missense variant	-	NC_000003.12:g.134191971T>C	ExAC,gnomAD
RYK	P34925	p.Thr300Ala	rs375652759	missense variant	-	NC_000003.12:g.134191966T>C	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg302Gln	rs765653693	missense variant	-	NC_000003.12:g.134191959C>T	ExAC,gnomAD
RYK	P34925	p.Arg302Trp	rs1001726536	missense variant	-	NC_000003.12:g.134191960G>A	TOPMed,gnomAD
RYK	P34925	p.Ile303Met	rs573507958	missense variant	-	NC_000003.12:g.134191955T>C	1000Genomes
RYK	P34925	p.Ser310Asn	rs1036775428	missense variant	-	NC_000003.12:g.134191935C>T	TOPMed,gnomAD
RYK	P34925	p.Ser310Arg	rs1220945509	missense variant	-	NC_000003.12:g.134191934A>C	gnomAD
RYK	P34925	p.Leu313Phe	rs775554119	missense variant	-	NC_000003.12:g.134191927G>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Leu313Val	rs775554119	missense variant	-	NC_000003.12:g.134191927G>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Leu314Ser	rs372101827	missense variant	-	NC_000003.12:g.134191923A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Glu315Asp	rs1444554525	missense variant	-	NC_000003.12:g.134191919C>A	TOPMed
RYK	P34925	p.Gly318Asp	rs1177593565	missense variant	-	NC_000003.12:g.134191911C>T	gnomAD
RYK	P34925	p.Val320Leu	rs748945264	missense variant	-	NC_000003.12:g.134191906C>A	ExAC
RYK	P34925	p.Asp322Asn	rs937537260	missense variant	-	NC_000003.12:g.134191900C>T	TOPMed
RYK	P34925	p.Ile325Val	rs1425051712	missense variant	-	NC_000003.12:g.134191891T>C	gnomAD
RYK	P34925	p.Ser326Pro	rs755710425	missense variant	-	NC_000003.12:g.134191888A>G	ExAC,gnomAD
RYK	P34925	p.Glu328Lys	rs1246520350	missense variant	-	NC_000003.12:g.134191882C>T	gnomAD
RYK	P34925	p.Arg329Ser	rs375133082	missense variant	-	NC_000003.12:g.134191877C>G	ESP
RYK	P34925	p.Arg329Lys	rs780654400	missense variant	-	NC_000003.12:g.134191878C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Leu332Val	rs759001453	missense variant	-	NC_000003.12:g.134191870G>C	ExAC,gnomAD
RYK	P34925	p.Lys333Asn	rs765713202	missense variant	-	NC_000003.12:g.134191865T>A	ExAC,gnomAD
RYK	P34925	p.Asp334Gly	rs1277869799	missense variant	-	NC_000003.12:g.134191863T>C	gnomAD
RYK	P34925	p.Val335Ile	rs1367113937	missense variant	-	NC_000003.12:g.134191861C>T	gnomAD
RYK	P34925	p.Leu336Val	rs370703140	missense variant	-	NC_000003.12:g.134191858G>C	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Thr340Ala	rs1335027550	missense variant	-	NC_000003.12:g.134188921T>C	TOPMed
RYK	P34925	p.Arg343Cys	rs752906721	missense variant	-	NC_000003.12:g.134188912G>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg343His	rs530455784	missense variant	-	NC_000003.12:g.134188911C>T	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg343Gly	rs752906721	missense variant	-	NC_000003.12:g.134188912G>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.His346Arg	rs774328896	missense variant	-	NC_000003.12:g.134188902T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.His346Gln	rs1162968404	missense variant	-	NC_000003.12:g.134188901A>T	gnomAD
RYK	P34925	p.Ile350Val	rs1423398171	missense variant	-	NC_000003.12:g.134188891T>C	gnomAD
RYK	P34925	p.Asp351His	rs766279665	missense variant	-	NC_000003.12:g.134188888C>G	ExAC,gnomAD
RYK	P34925	p.Lys353Glu	rs1184426223	missense variant	-	NC_000003.12:g.134188882T>C	gnomAD
RYK	P34925	p.Pro355Ser	rs1484021721	missense variant	-	NC_000003.12:g.134188876G>A	gnomAD
RYK	P34925	p.Asn356Asp	rs1249485506	missense variant	-	NC_000003.12:g.134188873T>C	gnomAD
RYK	P34925	p.Asn356Lys	rs187357709	missense variant	-	NC_000003.12:g.134188871A>T	1000Genomes,ExAC,gnomAD
RYK	P34925	p.Glu358Lys	rs772908060	missense variant	-	NC_000003.12:g.134188867C>T	ExAC,gnomAD
RYK	P34925	p.Lys359Gln	rs769587020	missense variant	-	NC_000003.12:g.134188864T>G	ExAC,TOPMed,gnomAD
RYK	P34925	p.Gln360Lys	rs1325329825	missense variant	-	NC_000003.12:g.134188861G>T	TOPMed
RYK	P34925	p.Ala361Thr	rs747772141	missense variant	-	NC_000003.12:g.134188858C>T	ExAC,gnomAD
RYK	P34925	p.Val363Ala	rs1047007402	missense variant	-	NC_000003.12:g.134188851A>G	TOPMed
RYK	P34925	p.Lys364Arg	rs1320739106	missense variant	-	NC_000003.12:g.134188848T>C	gnomAD
RYK	P34925	p.Thr365Ile	rs374029224	missense variant	-	NC_000003.12:g.134188845G>A	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Thr365Ala	rs948264909	missense variant	-	NC_000003.12:g.134188846T>C	TOPMed
RYK	P34925	p.Val366Ala	rs1053684419	missense variant	-	NC_000003.12:g.134188842A>G	TOPMed,gnomAD
RYK	P34925	p.Asp368Gly	rs773148971	missense variant	-	NC_000003.12:g.134183071T>C	ExAC,gnomAD
RYK	P34925	p.Ala370Thr	rs1177238730	missense variant	-	NC_000003.12:g.134183066C>T	gnomAD
RYK	P34925	p.Ala370Val	rs1478347859	missense variant	-	NC_000003.12:g.134183065G>A	gnomAD
RYK	P34925	p.Ser371Cys	rs761667849	missense variant	-	NC_000003.12:g.134183062G>C	ExAC,gnomAD
RYK	P34925	p.Gln374His	rs1196614791	missense variant	-	NC_000003.12:g.134183052C>A	gnomAD
RYK	P34925	p.Val375Met	rs1328169453	missense variant	-	NC_000003.12:g.134183051C>T	TOPMed
RYK	P34925	p.Met377Val	rs199538071	missense variant	-	NC_000003.12:g.134183045T>C	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Leu379Phe	rs1432408428	missense variant	-	NC_000003.12:g.134183039G>A	gnomAD
RYK	P34925	p.Thr380Ala	rs1190119743	missense variant	-	NC_000003.12:g.134183036T>C	gnomAD
RYK	P34925	p.Lys384Gln	rs1357622331	missense variant	-	NC_000003.12:g.134183024T>G	gnomAD
RYK	P34925	p.Leu385Met	rs760303222	missense variant	-	NC_000003.12:g.134183021G>T	ExAC,gnomAD
RYK	P34925	p.Arg386Gly	rs775172207	missense variant	-	NC_000003.12:g.134183018G>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg386Ter	rs775172207	stop gained	-	NC_000003.12:g.134183018G>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg386Gln	rs771659243	missense variant	-	NC_000003.12:g.134183017C>T	ExAC,gnomAD
RYK	P34925	p.Gly387Ser	rs1003359275	missense variant	-	NC_000003.12:g.134183015C>T	TOPMed,gnomAD
RYK	P34925	p.Leu393Val	rs765210207	missense variant	-	NC_000003.12:g.134178069G>C	ExAC,gnomAD
RYK	P34925	p.Ile396Val	rs898114072	missense variant	-	NC_000003.12:g.134178060T>C	TOPMed,gnomAD
RYK	P34925	p.His398Gln	rs1171994347	missense variant	-	NC_000003.12:g.134178052A>C	gnomAD
RYK	P34925	p.His398Asn	rs1039388315	missense variant	-	NC_000003.12:g.134178054G>T	TOPMed
RYK	P34925	p.His398Arg	rs761564187	missense variant	-	NC_000003.12:g.134178053T>C	ExAC,gnomAD
RYK	P34925	p.His398Tyr	rs1039388315	missense variant	-	NC_000003.12:g.134178054G>A	TOPMed
RYK	P34925	p.Cys400Tyr	rs753656495	missense variant	-	NC_000003.12:g.134178047C>T	ExAC,gnomAD
RYK	P34925	p.Ile401Leu	rs763941686	missense variant	-	NC_000003.12:g.134178045T>A	ExAC
RYK	P34925	p.Glu402Gly	rs186853257	missense variant	-	NC_000003.12:g.134178041T>C	1000Genomes
RYK	P34925	p.Gly404Arg	rs1201462376	missense variant	-	NC_000003.12:g.134178036C>T	TOPMed
RYK	P34925	p.Glu405Gly	rs775215315	missense variant	-	NC_000003.12:g.134178032T>C	ExAC,gnomAD
RYK	P34925	p.Pro407Ser	rs771547748	missense variant	-	NC_000003.12:g.134178027G>A	ExAC,gnomAD
RYK	P34925	p.Met408Val	rs1338782493	missense variant	-	NC_000003.12:g.134178024T>C	TOPMed,gnomAD
RYK	P34925	p.Ile410Met	rs759072069	missense variant	-	NC_000003.12:g.134178016T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Pro412Ser	rs540639521	missense variant	-	NC_000003.12:g.134178012G>A	ExAC,gnomAD
RYK	P34925	p.Asn418Ser	rs781555616	missense variant	-	NC_000003.12:g.134177993T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Leu419Pro	rs1414281405	missense variant	-	NC_000003.12:g.134177990A>G	TOPMed
RYK	P34925	p.Arg424Pro	rs747240194	missense variant	-	NC_000003.12:g.134177975C>G	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg424Ter	rs768946920	stop gained	-	NC_000003.12:g.134177976G>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg424Gln	rs747240194	missense variant	-	NC_000003.12:g.134177975C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Leu428Val	rs1186206557	missense variant	-	NC_000003.12:g.134177964A>C	gnomAD
RYK	P34925	p.Val429Ala	rs1483696155	missense variant	-	NC_000003.12:g.134177960A>G	TOPMed,gnomAD
RYK	P34925	p.Val429Leu	rs1358329784	missense variant	-	NC_000003.12:g.134177961C>A	TOPMed
RYK	P34925	p.Asn432Ser	rs369256717	missense variant	-	NC_000003.12:g.134177951T>C	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Asn433Thr	rs1482941671	missense variant	-	NC_000003.12:g.134177948T>G	gnomAD
RYK	P34925	p.Asn433His	rs758468665	missense variant	-	NC_000003.12:g.134177949T>G	ExAC,gnomAD
RYK	P34925	p.Ala436Val	rs1180655509	missense variant	-	NC_000003.12:g.134176038G>A	gnomAD
RYK	P34925	p.Gln439Glu	rs767174728	missense variant	-	NC_000003.12:g.134176030G>C	ExAC,gnomAD
RYK	P34925	p.Gln440Arg	rs1224212115	missense variant	-	NC_000003.12:g.134176026T>C	gnomAD
RYK	P34925	p.Asp441Glu	rs773940787	missense variant	-	NC_000003.12:g.134176022G>C	ExAC,gnomAD
RYK	P34925	p.Met445Leu	rs1289475731	missense variant	-	NC_000003.12:g.134176012T>G	TOPMed,gnomAD
RYK	P34925	p.Met445Val	rs1289475731	missense variant	-	NC_000003.12:g.134176012T>C	TOPMed,gnomAD
RYK	P34925	p.Ala446Asp	rs1209538861	missense variant	-	NC_000003.12:g.134176008G>T	gnomAD
RYK	P34925	p.Ile447Phe	rs1331332594	missense variant	-	NC_000003.12:g.134176006T>A	TOPMed,gnomAD
RYK	P34925	p.Gln448Arg	rs141092884	missense variant	-	NC_000003.12:g.134176002T>C	1000Genomes,ExAC,gnomAD
RYK	P34925	p.Gln448His	rs762318020	missense variant	-	NC_000003.12:g.134176001C>G	ExAC,gnomAD
RYK	P34925	p.Ala450Thr	rs1372507434	missense variant	-	NC_000003.12:g.134175997C>T	gnomAD
RYK	P34925	p.Cys451Phe	rs777059872	missense variant	-	NC_000003.12:g.134175993C>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Gly452Ala	rs1437452606	missense variant	-	NC_000003.12:g.134175990C>G	gnomAD
RYK	P34925	p.Tyr455Cys	rs375788400	missense variant	-	NC_000003.12:g.134175981T>C	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala457Ser	rs1455265105	missense variant	-	NC_000003.12:g.134175976C>A	TOPMed
RYK	P34925	p.Arg459Lys	rs1347862369	missense variant	-	NC_000003.12:g.134175969C>T	gnomAD
RYK	P34925	p.Lys464Arg	rs116254638	missense variant	-	NC_000003.12:g.134175954T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Asn470Ser	rs1390287444	missense variant	-	NC_000003.12:g.134175936T>C	gnomAD
RYK	P34925	p.Asn470His	rs772308530	missense variant	-	NC_000003.12:g.134175937T>G	ExAC,gnomAD
RYK	P34925	p.Val472Ile	rs1156298024	missense variant	-	NC_000003.12:g.134175931C>T	gnomAD
RYK	P34925	p.Asp474Asn	rs1303139133	missense variant	-	NC_000003.12:g.134175764C>T	TOPMed
RYK	P34925	p.Leu477Ile	rs963511315	missense variant	-	NC_000003.12:g.134175755G>T	TOPMed,gnomAD
RYK	P34925	p.Leu477Val	rs963511315	missense variant	-	NC_000003.12:g.134175755G>C	TOPMed,gnomAD
RYK	P34925	p.Gln478Glu	rs1470806602	missense variant	-	NC_000003.12:g.134175752G>C	gnomAD
RYK	P34925	p.Asp483Glu	rs761070756	missense variant	-	NC_000003.12:g.134175735G>C	ExAC,gnomAD
RYK	P34925	p.Ala485Ser	rs775956464	missense variant	-	NC_000003.12:g.134175731C>A	ExAC,gnomAD
RYK	P34925	p.Leu486Phe	rs1406775444	missense variant	-	NC_000003.12:g.134175728G>A	gnomAD
RYK	P34925	p.Arg488Gly	rs778624399	missense variant	-	NC_000003.12:g.134175722T>C	TOPMed
RYK	P34925	p.Met493Leu	rs772277472	missense variant	-	NC_000003.12:g.134175707T>A	ExAC,gnomAD
RYK	P34925	p.Met493Val	rs772277472	missense variant	-	NC_000003.12:g.134175707T>C	ExAC,gnomAD
RYK	P34925	p.Gly499Arg	rs1253244411	missense variant	-	NC_000003.12:g.134175689C>T	TOPMed
RYK	P34925	p.Asn501Ser	rs754649427	missense variant	-	NC_000003.12:g.134175682T>C	TOPMed,gnomAD
RYK	P34925	p.Glu502Ter	rs1246393410	stop gained	-	NC_000003.12:g.134175680C>A	gnomAD
RYK	P34925	p.Arg507Leu	rs771192909	missense variant	-	NC_000003.12:g.134175664C>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg507His	rs771192909	missense variant	-	NC_000003.12:g.134175664C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Arg507Cys	rs144378986	missense variant	-	NC_000003.12:g.134175665G>A	1000Genomes,ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala510Thr	rs749356153	missense variant	-	NC_000003.12:g.134175656C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala510Pro	rs749356153	missense variant	-	NC_000003.12:g.134175656C>G	ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala510Ser	rs749356153	missense variant	-	NC_000003.12:g.134175656C>A	ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala510Val	rs900124267	missense variant	-	NC_000003.12:g.134175655G>A	TOPMed,gnomAD
RYK	P34925	p.Ala510Asp	rs900124267	missense variant	-	NC_000003.12:g.134175655G>T	TOPMed,gnomAD
RYK	P34925	p.Leu511Val	rs187302288	missense variant	-	NC_000003.12:g.134175653G>C	1000Genomes,ExAC,gnomAD
RYK	P34925	p.Leu514Val	rs1170545684	missense variant	-	NC_000003.12:g.134175644G>C	TOPMed
RYK	P34925	p.Val515Ile	rs115107686	missense variant	-	NC_000003.12:g.134175641C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Glu518Lys	rs754659003	missense variant	-	NC_000003.12:g.134175632C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Phe519Leu	rs201359781	missense variant	-	NC_000003.12:g.134175627G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Phe519Leu	rs201359781	missense variant	-	NC_000003.12:g.134175627G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Ser520Phe	rs1287590752	missense variant	-	NC_000003.12:g.134175625G>A	TOPMed
RYK	P34925	p.Ser521Arg	rs757955889	missense variant	-	NC_000003.12:g.134175621G>T	ExAC,gnomAD
RYK	P34925	p.Ala522Gly	rs1263073285	missense variant	-	NC_000003.12:g.134175619G>C	TOPMed,gnomAD
RYK	P34925	p.Ala522Thr	rs564736531	missense variant	-	NC_000003.12:g.134175620C>T	1000Genomes,ExAC,gnomAD
RYK	P34925	p.Ser523Gly	rs1309064343	missense variant	-	NC_000003.12:g.134175617T>C	TOPMed,gnomAD
RYK	P34925	p.Ser523Thr	rs761195238	missense variant	-	NC_000003.12:g.134175616C>G	ExAC,gnomAD
RYK	P34925	p.Val525Leu	rs753088284	missense variant	-	NC_000003.12:g.134175611C>G	ExAC,gnomAD
RYK	P34925	p.Trp526Arg	rs767888706	missense variant	-	NC_000003.12:g.134159373A>G	ExAC,gnomAD
RYK	P34925	p.Gly529Arg	rs1474932571	missense variant	-	NC_000003.12:g.134159364C>T	gnomAD
RYK	P34925	p.Val530Met	rs759985674	missense variant	-	NC_000003.12:g.134159361C>T	ExAC,gnomAD
RYK	P34925	p.Thr531Met	rs375916618	missense variant	-	NC_000003.12:g.134159357G>A	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Thr531Ala	rs751898749	missense variant	-	NC_000003.12:g.134159358T>C	ExAC,gnomAD
RYK	P34925	p.Met536Leu	rs1488627640	missense variant	-	NC_000003.12:g.134159343T>G	gnomAD
RYK	P34925	p.Leu538Val	rs770062508	missense variant	-	NC_000003.12:g.134159337G>C	ExAC,gnomAD
RYK	P34925	p.Gly539Asp	rs761782790	missense variant	-	NC_000003.12:g.134159333C>T	ExAC,gnomAD
RYK	P34925	p.Gln540Arg	rs1231117194	missense variant	-	NC_000003.12:g.134159330T>C	TOPMed
RYK	P34925	p.Val544Met	rs368912529	missense variant	-	NC_000003.12:g.134159319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Val544Gly	rs1230833404	missense variant	-	NC_000003.12:g.134159318A>C	gnomAD
RYK	P34925	p.Ile546Thr	rs1349150990	missense variant	-	NC_000003.12:g.134159312A>G	gnomAD
RYK	P34925	p.Pro548Leu	rs1236704629	missense variant	-	NC_000003.12:g.134159306G>A	TOPMed
RYK	P34925	p.Phe549Leu	rs375889971	missense variant	-	NC_000003.12:g.134159302G>C	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Glu550Lys	rs780732195	missense variant	-	NC_000003.12:g.134159301C>T	ExAC,gnomAD
RYK	P34925	p.Glu550Gln	rs780732195	missense variant	-	NC_000003.12:g.134159301C>G	ExAC,gnomAD
RYK	P34925	p.Ala553Glu	rs1439533248	missense variant	-	NC_000003.12:g.134159291G>T	TOPMed
RYK	P34925	p.Ala553Thr	rs745524156	missense variant	-	NC_000003.12:g.134159292C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Leu555Val	rs756838814	missense variant	-	NC_000003.12:g.134159286G>C	ExAC,gnomAD
RYK	P34925	p.Arg560Gln	rs748716502	missense variant	-	NC_000003.12:g.134159270C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala562Thr	rs755461371	missense variant	-	NC_000003.12:g.134159265C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala562Pro	rs755461371	missense variant	-	NC_000003.12:g.134159265C>G	ExAC,TOPMed,gnomAD
RYK	P34925	p.Ile565Val	rs752044201	missense variant	-	NC_000003.12:g.134159256T>C	ExAC,TOPMed,gnomAD
RYK	P34925	p.Asn566Ser	rs369924907	missense variant	-	NC_000003.12:g.134159252T>C	ESP,TOPMed
RYK	P34925	p.Cys567Ser	rs766852922	missense variant	-	NC_000003.12:g.134159249C>G	ExAC,TOPMed,gnomAD
RYK	P34925	p.Pro568Thr	rs758826987	missense variant	-	NC_000003.12:g.134159247G>T	ExAC,gnomAD
RYK	P34925	p.Ala576Pro	rs1201595587	missense variant	-	NC_000003.12:g.134158251C>G	gnomAD
RYK	P34925	p.Cys577Tyr	rs1458679545	missense variant	-	NC_000003.12:g.134158247C>T	TOPMed
RYK	P34925	p.Ala580Val	rs1484520223	missense variant	-	NC_000003.12:g.134158238G>A	gnomAD
RYK	P34925	p.Leu581Ser	rs374382478	missense variant	-	NC_000003.12:g.134158235A>G	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Glu585Asp	rs1300126758	missense variant	-	NC_000003.12:g.134158222C>A	gnomAD
RYK	P34925	p.Cys595Tyr	rs56149724	missense variant	-	NC_000003.12:g.134158193C>T	ExAC,TOPMed,gnomAD
RYK	P34925	p.Thr597Ile	rs1200565217	missense variant	-	NC_000003.12:g.134158187G>A	TOPMed
RYK	P34925	p.Ala601Thr	rs368597652	missense variant	-	NC_000003.12:g.134158176C>T	ESP,ExAC,TOPMed,gnomAD
RYK	P34925	p.Ala605Pro	rs146665782	missense variant	-	NC_000003.12:g.134158164C>G	gnomAD
RYK	P34925	p.Ala605Val	rs1171942439	missense variant	-	NC_000003.12:g.134158163G>A	TOPMed
RYK	P34925	p.Ala605Thr	rs146665782	missense variant	-	NC_000003.12:g.134158164C>T	gnomAD
RYK	P34925	p.Val607Ile	rs200256181	missense variant	-	NC_000003.12:g.134158158C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Thr3Ala	COSM4117539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41224075A>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Asp6Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41224529A>C	NCI-TCGA
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41224577T>A	NCI-TCGA
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25Ter	COSM274695	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.41224587G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Trp25Ter	COSM3593969	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.41224586G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Tyr30Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.41224600_41224601insA	NCI-TCGA
CTNNB1	P35222	p.Leu31Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41224603C>G	NCI-TCGA
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	-	NC_000003.12:g.41224606G>T	-
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35AsnTyrGlnAspAspAlaGluLeuAlaThrArgAlaIle	NCI-TCGA novel	insertion	-	NC_000003.12:g.41224613_41224614insGATTAACTATCAAGATGATGCAGAACTTGCCACACGTGC	NCI-TCGA
CTNNB1	P35222	p.Ile35Ser	COSM5674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41224616T>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.His36Pro	COSM5678	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41224619A>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Ala39GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41224626_41224648TGCCACTACCACAGCTCCTTCTC>-	NCI-TCGA
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41224637C>-	NCI-TCGA
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	rs121913409	missense variant	-	NC_000003.12:g.41224646C>G	-
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Lys49Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41224658A>C	NCI-TCGA
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Glu54Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41224674A>T	NCI-TCGA
CTNNB1	P35222	p.Glu54Asp	COSM5990177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41224674A>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Glu55Lys	COSM5697	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41224675G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser60Phe	COSM5700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41224691C>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Thr75Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41224736C>T	NCI-TCGA
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ala80Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41224750G>A	NCI-TCGA
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly84Arg	COSM4117540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41224962G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Gln	COSM1423031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41224981G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Val94Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41224993T>A	NCI-TCGA
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu101Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225015G>T	NCI-TCGA
CTNNB1	P35222	p.Leu103PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41225020_41225021insTTATTTAAACTATTATACACTA	NCI-TCGA
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Val136Ala	COSM4920219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225119T>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.Ile140Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225131T>A	NCI-TCGA
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41225163C>-	NCI-TCGA
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41225165_41225169TGCAA>-	NCI-TCGA
CTNNB1	P35222	p.Ala152Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225167C>G	NCI-TCGA
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Lys158Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225184A>G	NCI-TCGA
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Leu159Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225188T>C	NCI-TCGA
CTNNB1	P35222	p.Asn161Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225194A>T	NCI-TCGA
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Gln165His	COSM730872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225207G>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Val166Gly	COSM4117546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225335T>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Val166Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225334G>A	NCI-TCGA
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Lys170Met	COSM1044590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225347A>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Arg185Gly	COSM4917299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225391A>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala197Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225427G>T	NCI-TCGA
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Arg200His	COSM5346998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225437G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Gln203His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225447G>T	NCI-TCGA
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Asn204Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225449A>T	NCI-TCGA
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Cys213Phe	COSM6097709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225476G>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Cys	COSM1202590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225511C>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Ile256Met	COSM3696077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225693T>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ile256Thr	COSM1423041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225692T>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu259His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225701T>A	NCI-TCGA
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Met271TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41225733A>-	NCI-TCGA
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Lys292Glu	COSM3593970	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225799A>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Lys292Thr	COSM1423045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225800A>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu301HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41225827_41225831TTCAA>-	NCI-TCGA
CTNNB1	P35222	p.Gln302His	COSM1202592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225831A>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ile303Met	COSM188060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41225834T>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Glu310Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41225853G>A	NCI-TCGA
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Ala323Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41227238G>C	NCI-TCGA
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile327Thr	COSM4117548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41227251T>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Met328Ile	COSM6164735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41227255G>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Phe	COSM3738527	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41227269A>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Tyr333Asp	NCI-TCGA novel	insertion	-	NC_000003.12:g.41227268_41227269insACG	NCI-TCGA
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Glu334Ala	COSM1423046	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41227272A>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Lys335AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41227272A>-	NCI-TCGA
CTNNB1	P35222	p.Lys335Ile	COSM17797	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41227275A>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Lys335Thr	COSM1725761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41227275A>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Leu336Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41227278T>C	NCI-TCGA
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr339Asn	COSM4117549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41227287C>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Arg342Lys	COSM4879313	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41227296G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Leu347Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41227310C>A	NCI-TCGA
CTNNB1	P35222	p.Leu347ThrPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000003.12:g.41227309_41227310insACAAAATAATCTGCACACGAAACCCCTGTGA	NCI-TCGA
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Ser352Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41227326G>A	NCI-TCGA
CTNNB1	P35222	p.Lys354Thr	COSM1044596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41227332A>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Lys354Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41227331A>C	NCI-TCGA
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly367Val	COSM6097708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233359G>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Leu368His	COSM4911557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233362T>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.His369Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41233364C>T	NCI-TCGA
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg376His	COSM327069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233386G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Trp383Arg	COSM1423048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233406T>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Trp383Cys	COSM251415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233408G>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Trp383Gly	COSM290306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233406T>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Trp383Cys	COSM4919179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233408G>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Arg386Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41233415A>G	NCI-TCGA
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Lys	COSM188063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233420T>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Asn387Ile	COSM4916531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233419A>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Asn387Tyr	COSM4919005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233418A>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Asp390Glu	COSM4399500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233429T>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ala391Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41233430G>T	NCI-TCGA
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Glu399Ala	COSM3696078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233539A>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu405Phe	COSM2987960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233556C>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn415His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41233586A>C	NCI-TCGA
CTNNB1	P35222	p.Cys419SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41233597_41233601CTGTG>-	NCI-TCGA
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Gly422Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41233608G>A	NCI-TCGA
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Ser425Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41233617C>G	NCI-TCGA
CTNNB1	P35222	p.Asn426Asp	COSM480084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233619A>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Cys429Gly	COSM3593971	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233628T>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Arg449LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41233689G>-	NCI-TCGA
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg453Gln	COSM1044599	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233701G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Glu458LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41233713G>-	NCI-TCGA
CTNNB1	P35222	p.Ile460Thr	COSM4117551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233722T>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ala464Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41233734C>T	NCI-TCGA
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Arg469His	COSM1582585	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41233749G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Arg474Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41233764G>A	NCI-TCGA
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.His488ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41233803T>-	NCI-TCGA
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Thr510Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41234142A>C	NCI-TCGA
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Gln	COSM256708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41234158G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Leu517Phe	COSM288377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41234163C>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ala532Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41234209C>T	NCI-TCGA
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Gln	COSM1044600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41234218G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Leu540ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41234231_41234232insGTATCAA	NCI-TCGA
CTNNB1	P35222	p.Val541LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.41234233_41234234insAAAAGTAGTTC	NCI-TCGA
CTNNB1	P35222	p.Val541Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41234236T>C	NCI-TCGA
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Gln545Ter	COSM3593972	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.41234247C>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu568Lys	COSM1423050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41235742G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.His578Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41235773A>G	NCI-TCGA
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Arg582Gln	COSM271020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41235785G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Gln	COSM1044603	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41235800G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr595Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41235824C>T	NCI-TCGA
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Pro597Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41235829C>T	NCI-TCGA
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val613Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41236382G>T	NCI-TCGA
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Cys619Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41236401G>A	NCI-TCGA
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Ala622Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41236409G>C	NCI-TCGA
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Glu	COSM1044605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41236412C>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Glu649Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41236490G>C	NCI-TCGA
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Thr653Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41236591C>A	NCI-TCGA
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala657Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41236602G>A	NCI-TCGA
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Asp	COSM5608169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41236625G>T	NCI-TCGA Cosmic
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Phe683Tyr	COSM3775011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41236681T>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Pro687Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41236692C>T	NCI-TCGA
CTNNB1	P35222	p.Pro687Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41236693C>T	NCI-TCGA
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Thr	COSM1044607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41236696T>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp699His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41238034G>C	NCI-TCGA
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Asp712Asn	COSM1044609	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41238073G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41239137C>T	NCI-TCGA
CTNNB1	P35222	p.Pro714Arg	COSM730866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41239137C>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Tyr716Cys	COSM3373175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41239143A>G	NCI-TCGA Cosmic
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Glu738Lys	COSM1485172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41239208G>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Pro744Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41239226C>T	NCI-TCGA
CTNNB1	P35222	p.Pro744Thr	COSM3373176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41239226C>A	NCI-TCGA Cosmic
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Leu762Pro	COSM4403057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41239281T>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.41239312T>A	NCI-TCGA
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Phe777Ser	COSM6097707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.41239326T>C	NCI-TCGA Cosmic
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	-
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Asn	rs28931588	missense variant	-	NC_000003.12:g.41224606G>A	-
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	-	NC_000003.12:g.41224610C>T	-
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	-
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32His	rs28931588	missense variant	-	NC_000003.12:g.41224606G>C	-
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	-
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	-	NC_000003.12:g.41224622C>G	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	-	NC_000003.12:g.41224606G>T	-
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Ala	rs121913396	missense variant	-	NC_000003.12:g.41224607A>C	-
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	-	NC_000003.12:g.41224622C>T	-
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	-	NC_000003.12:g.41224622C>T	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	-	NC_000003.12:g.41224622C>G	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Ala	rs121913407	missense variant	-	NC_000003.12:g.41224645T>G	-
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	rs121913413	missense variant	-	NC_000003.12:g.41224634C>A	-
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	-
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	rs121913413	missense variant	-	NC_000003.12:g.41224634C>A	-
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32His	rs28931588	missense variant	-	NC_000003.12:g.41224606G>C	-
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	rs121913396	missense variant	-	NC_000003.12:g.41224607A>G	-
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Gly	rs121913396	missense variant	-	NC_000003.12:g.41224607A>G	-
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	-	NC_000003.12:g.41224606G>T	-
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	-
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
CTNNB1	P35222	p.Ala2Thr	rs1204596334	missense variant	-	NC_000003.12:g.41224072G>A	TOPMed
CTNNB1	P35222	p.Ala2Gly	rs1310497035	missense variant	-	NC_000003.12:g.41224073C>G	TOPMed,gnomAD
CTNNB1	P35222	p.Thr3Asn	rs749331498	missense variant	-	NC_000003.12:g.41224076C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala5Gly	rs1448779783	missense variant	-	NC_000003.12:g.41224526C>G	TOPMed
CTNNB1	P35222	p.Met8Thr	RCV000681492	missense variant	-	NC_000003.12:g.41224535T>C	ClinVar
CTNNB1	P35222	p.Ala13Thr	RCV000419765	missense variant	Cutaneous melanoma	NC_000003.12:g.41224549G>A	ClinVar
CTNNB1	P35222	p.Ala13Thr	rs121913394	missense variant	-	NC_000003.12:g.41224549G>A	-
CTNNB1	P35222	p.Met14Val	rs752642845	missense variant	-	NC_000003.12:g.41224552A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met14Val	RCV000513017	missense variant	-	NC_000003.12:g.41224552A>G	ClinVar
CTNNB1	P35222	p.Glu15Asp	rs587778221	missense variant	-	NC_000003.12:g.41224557A>C	-
CTNNB1	P35222	p.Glu15Asp	RCV000120620	missense variant	-	NC_000003.12:g.41224557A>C	ClinVar
CTNNB1	P35222	p.Pro16Arg	rs1453594408	missense variant	-	NC_000003.12:g.41224559C>G	gnomAD
CTNNB1	P35222	p.Pro16Thr	rs1290293308	missense variant	-	NC_000003.12:g.41224558C>A	gnomAD
CTNNB1	P35222	p.Ala20Val	rs757325337	missense variant	-	NC_000003.12:g.41224571C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala21Thr	RCV000430055	missense variant	Cutaneous melanoma	NC_000003.12:g.41224573G>A	ClinVar
CTNNB1	P35222	p.Ala21Thr	rs121913395	missense variant	-	NC_000003.12:g.41224573G>A	-
CTNNB1	P35222	p.Val22Ala	rs77064436	missense variant	-	NC_000003.12:g.41224577T>C	ExAC,gnomAD
CTNNB1	P35222	p.Val22Gly	rs77064436	missense variant	-	NC_000003.12:g.41224577T>G	ExAC,gnomAD
CTNNB1	P35222	p.Val22Ala	RCV000420898	missense variant	Cutaneous melanoma	NC_000003.12:g.41224577T>C	ClinVar
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	TOPMed
CTNNB1	P35222	p.Ser23Arg	rs1413975856	missense variant	-	NC_000003.12:g.41224579A>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser23Arg	VAR_017612	missense variant	-	NC_000003.12:g.41224579A>C	UniProt
CTNNB1	P35222	p.Trp25_Ser33del	VAR_017613	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Gln26His	rs1159520578	missense variant	-	NC_000003.12:g.41224590G>C	TOPMed
CTNNB1	P35222	p.Gln28His	rs1258632801	missense variant	-	NC_000003.12:g.41224596G>T	gnomAD
CTNNB1	P35222	p.Asp32Ala	RCV000439506	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000423474	missense variant	Endometrial neoplasm	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421851	missense variant	-	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000422753	missense variant	-	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000418872	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000429141	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Gly	RCV000019140	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224607A>G	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000434746	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000433870	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000443906	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000421005	missense variant	Cutaneous melanoma	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000439390	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000440497	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000429284	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000422917	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000428408	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000436415	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32Ala	RCV000438648	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224607A>C	ClinVar
CTNNB1	P35222	p.Asp32Val	RCV000430242	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224607A>T	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000440025	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000431551	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429774	missense variant	Cutaneous melanoma	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000439366	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000430427	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000128842	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000444118	missense variant	Endometrial neoplasm	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000421744	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000425710	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Tyr	rs28931588	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt,dbSNP
CTNNB1	P35222	p.Asp32Tyr	VAR_017616	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224606G>T	UniProt
CTNNB1	P35222	p.Asp32His	RCV000437131	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000438971	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000423696	missense variant	-	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000421306	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Val	rs121913396	missense variant	-	NC_000003.12:g.41224607A>T	-
CTNNB1	P35222	p.Asp32Asn	RCV000444402	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432497	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000422380	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Tyr	RCV000019144	missense variant	Hepatoblastoma	NC_000003.12:g.41224606G>T	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000432187	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000419510	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Asp32Asn	RCV000441401	missense variant	Esophageal Squamous Cell Carcinoma	NC_000003.12:g.41224606G>A	ClinVar
CTNNB1	P35222	p.Asp32His	RCV000429157	missense variant	-	NC_000003.12:g.41224606G>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019139	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426101	missense variant	-	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000424341	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000431206	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000439171	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000433600	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000426401	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000435028	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000420132	missense variant	-	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000441880	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000436119	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000418863	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000418116	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000428518	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000432938	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000417825	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000425706	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Tyr	RCV000019138	missense variant	Carcinoma of colon (CRC)	NC_000003.12:g.41224610C>A	ClinVar
CTNNB1	P35222	p.Ser33Cys	RCV000421624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	RCV000019148	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000437702	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000443586	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000440476	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433966	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000424580	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000420531	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000442478	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000435335	missense variant	-	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000443305	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Tyr	rs121913400	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Tyr	VAR_017619	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224610C>A	UniProt
CTNNB1	P35222	p.Ser33Thr	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>A	-
CTNNB1	P35222	p.Ser33Ala	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>G	-
CTNNB1	P35222	p.Ser33Pro	rs1057519886	missense variant	-	NC_000003.12:g.41224609T>C	-
CTNNB1	P35222	p.Ser33Ala	RCV000430905	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000433324	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000440157	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000441600	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Thr	RCV000427045	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224609T>A	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000434673	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Pro	RCV000425263	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>C	ClinVar
CTNNB1	P35222	p.Ser33Ala	RCV000423241	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224609T>G	ClinVar
CTNNB1	P35222	p.Ser33Phe	rs121913400	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser33Phe	VAR_017617	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224610C>T	UniProt
CTNNB1	P35222	p.Ser33Leu	VAR_017618	Missense	-	-	UniProt
CTNNB1	P35222	p.Gly34Arg	RCV000430713	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000444074	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000418083	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000426895	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>A	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438776	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438599	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000420040	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000419419	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427501	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000438184	missense variant	Craniopharyngioma	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000436663	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	RCV000427907	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224612G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	rs28931589	missense variant	-	NC_000003.12:g.41224613G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	RCV000149120	missense variant	Malignant tumor of prostate	NC_000003.12:g.41224613G>T	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000430157	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000437750	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000436689	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	-	NC_000003.12:g.41224613G>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly34Val	rs28931589	missense variant	-	NC_000003.12:g.41224613G>T	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Val	VAR_017622	missense variant	-	NC_000003.12:g.41224613G>T	UniProt
CTNNB1	P35222	p.Gly34Glu	rs28931589	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt,dbSNP
CTNNB1	P35222	p.Gly34Glu	VAR_017620	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224613G>A	UniProt
CTNNB1	P35222	p.Gly34Ala	RCV000442184	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000427731	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000442160	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>A	-
CTNNB1	P35222	p.Gly34Arg	rs121913399	missense variant	-	NC_000003.12:g.41224612G>C	-
CTNNB1	P35222	p.Gly34Ala	RCV000427084	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Ala	RCV000419447	missense variant	Squamous cell carcinoma of the head and neck (HNSCC)	NC_000003.12:g.41224613G>C	ClinVar
CTNNB1	P35222	p.Gly34Glu	RCV000443977	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224613G>A	ClinVar
CTNNB1	P35222	p.Ile35Ser	VAR_017623	Missense	-	-	UniProt
CTNNB1	P35222	p.Ser37Phe	RCV000433883	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435198	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430355	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000420061	missense variant	Ovarian Neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000426018	missense variant	-	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000444520	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419464	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000426489	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440333	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000019141	missense variant	Neoplasm of ovary	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000436705	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000440535	missense variant	Adenocarcinoma of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000430984	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000419658	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423953	missense variant	Neoplasm of stomach	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	RCV000419361	missense variant	Cutaneous melanoma	NC_000003.12:g.41224622C>A	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000445320	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000424491	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000437726	missense variant	-	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000435831	missense variant	Neoplasm of the parathyroid gland	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Cys	RCV000030945	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000425340	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000429643	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000436738	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423766	missense variant	-	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Ala	RCV000444358	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>G	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000428583	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000434676	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000423296	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000431861	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Pro	RCV000444541	missense variant	Carcinoma of esophagus	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Phe	RCV000427490	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224622C>T	ClinVar
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	-	NC_000003.12:g.41224621T>G	-
CTNNB1	P35222	p.Ser37Ala	rs121913228	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Ala	VAR_017624	missense variant	Medulloblastoma (MDB)	NC_000003.12:g.41224621T>G	UniProt
CTNNB1	P35222	p.Ser37Cys	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Cys	VAR_017625	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>G	UniProt
CTNNB1	P35222	p.Ser37Pro	rs121913228	missense variant	-	NC_000003.12:g.41224621T>C	-
CTNNB1	P35222	p.Ser37Pro	RCV000443827	missense variant	Uterine cervical neoplasms	NC_000003.12:g.41224621T>C	ClinVar
CTNNB1	P35222	p.Ser37Tyr	rs121913403	missense variant	-	NC_000003.12:g.41224622C>A	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Tyr	VAR_017627	missense variant	-	NC_000003.12:g.41224622C>A	UniProt
CTNNB1	P35222	p.Ser37Phe	rs121913403	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser37Phe	VAR_017626	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224622C>T	UniProt
CTNNB1	P35222	p.Ser37_Gly38delinsTrp	VAR_017628	deletion_insertion	-	-	UniProt
CTNNB1	P35222	p.Thr40Pro	RCV000425513	missense variant	Neoplasm	NC_000003.12:g.41224630A>C	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000426279	missense variant	Neoplasm	NC_000003.12:g.41224631C>G	ClinVar
CTNNB1	P35222	p.Thr40Ser	RCV000444185	missense variant	Neoplasm	NC_000003.12:g.41224630A>T	ClinVar
CTNNB1	P35222	p.Thr40Ile	RCV000436951	missense variant	Cutaneous melanoma	NC_000003.12:g.41224631C>T	ClinVar
CTNNB1	P35222	p.Thr40Ser	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>T	-
CTNNB1	P35222	p.Thr40Ala	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>G	-
CTNNB1	P35222	p.Thr40Ile	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>T	-
CTNNB1	P35222	p.Thr40Ser	rs1057519837	missense variant	-	NC_000003.12:g.41224631C>G	-
CTNNB1	P35222	p.Thr40Ala	RCV000433725	missense variant	Neoplasm of stomach	NC_000003.12:g.41224630A>G	ClinVar
CTNNB1	P35222	p.Thr40Pro	rs1057519836	missense variant	-	NC_000003.12:g.41224630A>C	-
CTNNB1	P35222	p.Thr41Asn	RCV000420278	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	RCV000019152	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000430531	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421675	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000417888	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000437888	missense variant	Pancreatic adenocarcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000440036	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000428037	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000438649	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000435532	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000431914	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000430146	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000419429	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000440817	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000421001	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Ala	RCV000432978	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224633A>G	ClinVar
CTNNB1	P35222	p.Thr41Asn	RCV000422378	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224634C>A	ClinVar
CTNNB1	P35222	p.Thr41Ile	rs121913413	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ile	VAR_017630	missense variant	Pilomatrixoma (PTR)	NC_000003.12:g.41224634C>T	UniProt
CTNNB1	P35222	p.Thr41Ala	rs121913412	missense variant	-	NC_000003.12:g.41224633A>G	UniProt,dbSNP
CTNNB1	P35222	p.Thr41Ala	VAR_017629	missense variant	-	NC_000003.12:g.41224633A>G	UniProt
CTNNB1	P35222	p.Thr42Ile	rs769203968	missense variant	-	NC_000003.12:g.41224637C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr42Ile	RCV000503885	missense variant	-	NC_000003.12:g.41224637C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000432444	missense variant	Malignant neoplasm of body of uterus	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000437569	missense variant	Neoplasm of the large intestine	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000420360	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439811	missense variant	-	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000420592	missense variant	Disease	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Phe	RCV000019153	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224646C>T	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000422624	missense variant	Disease	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000417615	missense variant	Adrenocortical carcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000439152	missense variant	Malignant melanoma of skin (CMM)	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428521	missense variant	Adenocarcinoma of prostate	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Tyr	RCV000422850	missense variant	Cutaneous melanoma	NC_000003.12:g.41224646C>A	ClinVar
CTNNB1	P35222	p.Ser45Pro	RCV000019154	missense variant	Hepatocellular carcinoma (HCC)	NC_000003.12:g.41224645T>C	ClinVar
CTNNB1	P35222	p.Ser45Cys	RCV000428312	missense variant	Lung adenocarcinoma	NC_000003.12:g.41224646C>G	ClinVar
CTNNB1	P35222	p.Ser45Ala	RCV000427795	missense variant	Neoplasm of brain	NC_000003.12:g.41224645T>G	ClinVar
CTNNB1	P35222	p.Ser45Pro	rs121913407	missense variant	-	NC_000003.12:g.41224645T>C	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Pro	VAR_017632	missense variant	-	NC_000003.12:g.41224645T>C	UniProt
CTNNB1	P35222	p.Ser45Phe	rs121913409	missense variant	-	NC_000003.12:g.41224646C>T	UniProt,dbSNP
CTNNB1	P35222	p.Ser45Phe	VAR_017631	missense variant	-	NC_000003.12:g.41224646C>T	UniProt
CTNNB1	P35222	p.Ser45del	VAR_055430	inframe_deletion	-	-	UniProt
CTNNB1	P35222	p.Asn51Ser	rs1171472831	missense variant	-	NC_000003.12:g.41224664A>G	gnomAD
CTNNB1	P35222	p.Pro52Leu	rs1031199273	missense variant	-	NC_000003.12:g.41224667C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Asp56Ala	rs1408694980	missense variant	-	NC_000003.12:g.41224679A>C	TOPMed,gnomAD
CTNNB1	P35222	p.Asp58Gly	rs772550053	missense variant	-	NC_000003.12:g.41224685A>G	ExAC,gnomAD
CTNNB1	P35222	p.Tyr64Cys	rs1330746638	missense variant	-	NC_000003.12:g.41224703A>G	TOPMed
CTNNB1	P35222	p.Trp66Ter	RCV000361215	nonsense	-	NC_000003.12:g.41224710G>A	ClinVar
CTNNB1	P35222	p.Trp66Ter	rs886041553	stop gained	-	NC_000003.12:g.41224710G>A	-
CTNNB1	P35222	p.Glu67Lys	rs1353105537	missense variant	-	NC_000003.12:g.41224711G>A	gnomAD
CTNNB1	P35222	p.Val79Ile	rs1269197442	missense variant	-	NC_000003.12:g.41224747G>A	TOPMed
CTNNB1	P35222	p.Ile82Met	rs1283770769	missense variant	-	NC_000003.12:g.41224958T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Val	rs773781329	missense variant	-	NC_000003.12:g.41224956A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Phe	rs773781329	missense variant	-	NC_000003.12:g.41224956A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile82Thr	rs748781625	missense variant	-	NC_000003.12:g.41224957T>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln85Pro	rs770494663	missense variant	-	NC_000003.12:g.41224966A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr86Cys	rs1223771101	missense variant	-	NC_000003.12:g.41224969A>G	gnomAD
CTNNB1	P35222	p.Ala87Val	rs1295048026	missense variant	-	NC_000003.12:g.41224972C>T	TOPMed
CTNNB1	P35222	p.Met88Val	rs773961563	missense variant	-	NC_000003.12:g.41224974A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg90Ter	RCV000234865	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	RCV000760810	nonsense	-	NC_000003.12:g.41224980C>T	ClinVar
CTNNB1	P35222	p.Arg90Ter	rs1369821061	stop gained	-	NC_000003.12:g.41224980C>T	TOPMed
CTNNB1	P35222	p.Arg95Ter	RCV000415150	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Gln	rs1158895192	missense variant	-	NC_000003.12:g.41224996G>A	gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000256097	nonsense	-	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	RCV000624646	nonsense	Inborn genetic diseases	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Arg95Ter	rs775104326	stop gained	-	NC_000003.12:g.41224995C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg95Ter	RCV000763110	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41224995C>T	ClinVar
CTNNB1	P35222	p.Ala96Ter	RCV000493681	frameshift	-	NC_000003.12:g.41224997_41225006del	ClinVar
CTNNB1	P35222	p.Met98Val	rs760527240	missense variant	-	NC_000003.12:g.41225004A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met98Leu	rs760527240	missense variant	-	NC_000003.12:g.41225004A>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp104Asn	rs763882677	missense variant	-	NC_000003.12:g.41225022G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp104Glu	rs753874922	missense variant	-	NC_000003.12:g.41225024T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly106Asp	rs746139399	missense variant	-	NC_000003.12:g.41225029G>A	TOPMed
CTNNB1	P35222	p.Gly106Val	rs746139399	missense variant	-	NC_000003.12:g.41225029G>T	TOPMed
CTNNB1	P35222	p.Met107Arg	rs1373151037	missense variant	-	NC_000003.12:g.41225032T>G	TOPMed
CTNNB1	P35222	p.Gln113Ter	RCV000519540	nonsense	-	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	RCV000678281	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225049C>T	ClinVar
CTNNB1	P35222	p.Gln113Ter	rs1553630279	stop gained	-	NC_000003.12:g.41225049C>T	-
CTNNB1	P35222	p.Asp115Tyr	rs1350450456	missense variant	-	NC_000003.12:g.41225055G>T	gnomAD
CTNNB1	P35222	p.Ala116Val	rs770107882	missense variant	-	NC_000003.12:g.41225059C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln123His	rs758551763	missense variant	-	NC_000003.12:g.41225081G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124Ser	rs751808983	missense variant	-	NC_000003.12:g.41225082C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg124His	rs755204384	missense variant	-	NC_000003.12:g.41225083G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg124Cys	rs751808983	missense variant	-	NC_000003.12:g.41225082C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu127Asp	rs752945251	missense variant	-	NC_000003.12:g.41225093A>C	ExAC
CTNNB1	P35222	p.Pro128Ser	rs202217100	missense variant	-	NC_000003.12:g.41225094C>T	ExAC
CTNNB1	P35222	p.Pro128Thr	rs202217100	missense variant	-	NC_000003.12:g.41225094C>A	ExAC
CTNNB1	P35222	p.Met131Ile	rs1483026554	missense variant	-	NC_000003.12:g.41225105G>A	TOPMed
CTNNB1	P35222	p.Leu132Val	rs775491694	missense variant	-	NC_000003.12:g.41225106C>G	gnomAD
CTNNB1	P35222	p.Asn138Asp	rs1468458366	missense variant	-	NC_000003.12:g.41225124A>G	gnomAD
CTNNB1	P35222	p.GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThr143GlnAspAspAlaGluLeuAlaThrArgAlaIleProGluLeuThrLysMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerUnk	rs1553630304	stop gained	-	NC_000003.12:g.41225139_41225182dup	-
CTNNB1	P35222	p.Arg151His	rs200968230	missense variant	-	NC_000003.12:g.41225164G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg151Cys	rs1267755116	missense variant	-	NC_000003.12:g.41225163C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala152Thr	rs1231397985	missense variant	-	NC_000003.12:g.41225166G>A	TOPMed
CTNNB1	P35222	p.Ala152Val	rs1333019206	missense variant	-	NC_000003.12:g.41225167C>T	TOPMed
CTNNB1	P35222	p.Ile153Val	rs1362923686	missense variant	-	NC_000003.12:g.41225169A>G	gnomAD
CTNNB1	P35222	p.Thr157Ile	rs1413932105	missense variant	-	NC_000003.12:g.41225182C>T	gnomAD
CTNNB1	P35222	p.Leu159MetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys	RCV000500221	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225139_41225182dup	ClinVar
CTNNB1	P35222	p.Glu163Asp	rs1349803723	missense variant	-	NC_000003.12:g.41225201G>C	TOPMed
CTNNB1	P35222	p.Asn169Ser	rs1457418133	missense variant	-	NC_000003.12:g.41225344A>G	gnomAD
CTNNB1	P35222	p.Val173Ile	rs764327430	missense variant	-	NC_000003.12:g.41225355G>A	ExAC,gnomAD
CTNNB1	P35222	p.Met174Thr	rs754132704	missense variant	-	NC_000003.12:g.41225359T>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys180Arg	rs757629128	missense variant	-	NC_000003.12:g.41225377A>G	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Ter	RCV000484374	frameshift	-	NC_000003.12:g.41225380del	ClinVar
CTNNB1	P35222	p.Lys181Gln	rs765722646	missense variant	-	NC_000003.12:g.41225379A>C	ExAC,gnomAD
CTNNB1	P35222	p.Lys181Met	rs1403906625	missense variant	-	NC_000003.12:g.41225380A>T	TOPMed
CTNNB1	P35222	p.Ala187Thr	rs963558956	missense variant	-	NC_000003.12:g.41225397G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Met189Thr	rs757818390	missense variant	-	NC_000003.12:g.41225404T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg190His	rs1172941347	missense variant	-	NC_000003.12:g.41225407G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val195Met	rs147382769	missense variant	-	NC_000003.12:g.41225421G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val195Leu	rs147382769	missense variant	-	NC_000003.12:g.41225421G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile198Val	rs982974494	missense variant	-	NC_000003.12:g.41225430A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Val199Ile	rs1361277045	missense variant	-	NC_000003.12:g.41225433G>A	gnomAD
CTNNB1	P35222	p.Arg200Cys	rs139085081	missense variant	-	NC_000003.12:g.41225436C>T	ESP,TOPMed
CTNNB1	P35222	p.Met202Thr	rs587778222	missense variant	-	NC_000003.12:g.41225443T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Met202Thr	RCV000120621	missense variant	-	NC_000003.12:g.41225443T>C	ClinVar
CTNNB1	P35222	p.Asn204Ser	rs780996852	missense variant	-	NC_000003.12:g.41225449A>G	ExAC,gnomAD
CTNNB1	P35222	p.Thr205Ile	rs769777389	missense variant	-	NC_000003.12:g.41225452C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn206Asp	rs1463690576	missense variant	-	NC_000003.12:g.41225454A>G	TOPMed
CTNNB1	P35222	p.Asp207Glu	rs975378240	missense variant	-	NC_000003.12:g.41225459T>A	gnomAD
CTNNB1	P35222	p.Thr210Ser	rs1407787738	missense variant	-	NC_000003.12:g.41225466A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Ala211Val	rs1208316016	missense variant	-	NC_000003.12:g.41225470C>T	gnomAD
CTNNB1	P35222	p.Arg212Cys	rs770795614	missense variant	-	NC_000003.12:g.41225472C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg212His	rs200890083	missense variant	-	NC_000003.12:g.41225473G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr214Ala	rs1230436040	missense variant	-	NC_000003.12:g.41225478A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Thr	rs369771822	missense variant	-	NC_000003.12:g.41225481G>A	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Val	rs762164590	missense variant	-	NC_000003.12:g.41225482C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala215Ser	rs369771822	missense variant	-	NC_000003.12:g.41225481G>T	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg225Leu	rs144087793	missense variant	-	NC_000003.12:g.41225512G>T	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225His	rs144087793	missense variant	-	NC_000003.12:g.41225512G>A	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Arg225Pro	rs144087793	missense variant	-	NC_000003.12:g.41225512G>C	ESP,ExAC,gnomAD
CTNNB1	P35222	p.Glu226Asp	rs757499487	missense variant	-	NC_000003.12:g.41225516G>C	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu229Met	rs1453237622	missense variant	-	NC_000003.12:g.41225523C>A	gnomAD
CTNNB1	P35222	p.Ala230Asp	rs1287180882	missense variant	-	NC_000003.12:g.41225527C>A	gnomAD
CTNNB1	P35222	p.Phe232Ser	rs1393572968	missense variant	-	NC_000003.12:g.41225533T>C	gnomAD
CTNNB1	P35222	p.Gly236Ter	RCV000119827	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225543dup	ClinVar
CTNNB1	P35222	p.Ile237Val	rs758889881	missense variant	-	NC_000003.12:g.41225547A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu240Val	rs373574509	missense variant	-	NC_000003.12:g.41225556C>G	ESP,gnomAD
CTNNB1	P35222	p.Met243Thr	rs936616269	missense variant	-	NC_000003.12:g.41225566T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Gly245Ser	rs766827521	missense variant	-	NC_000003.12:g.41225571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser250Phe	rs1430995778	missense variant	-	NC_000003.12:g.41225674C>T	TOPMed
CTNNB1	P35222	p.Val251Gly	rs1349714845	missense variant	-	NC_000003.12:g.41225677T>G	TOPMed
CTNNB1	P35222	p.Thr257Ile	RCV000505560	missense variant	Wilms Tumor	NC_000003.12:g.41225695C>T	ClinVar
CTNNB1	P35222	p.Thr257Ile	rs1553630452	missense variant	-	NC_000003.12:g.41225695C>T	-
CTNNB1	P35222	p.Thr258Asn	rs1427148157	missense variant	-	NC_000003.12:g.41225698C>A	TOPMed
CTNNB1	P35222	p.Leu259Phe	rs1472749661	missense variant	-	NC_000003.12:g.41225700C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu259Ter	RCV000598599	frameshift	-	NC_000003.12:g.41225699_41225700TC[1]	ClinVar
CTNNB1	P35222	p.Leu264Ter	RCV000481334	frameshift	-	NC_000003.12:g.41225716del	ClinVar
CTNNB1	P35222	p.Gln266Ter	rs1553630472	stop gained	-	NC_000003.12:g.41225721C>T	-
CTNNB1	P35222	p.Gln266Ter	RCV000624180	nonsense	Inborn genetic diseases	NC_000003.12:g.41225721C>T	ClinVar
CTNNB1	P35222	p.Ala269Gly	rs1392093769	missense variant	-	NC_000003.12:g.41225731C>G	TOPMed
CTNNB1	P35222	p.Met271Leu	rs1390494769	missense variant	-	NC_000003.12:g.41225736A>C	gnomAD
CTNNB1	P35222	p.Val273Ala	rs1304354105	missense variant	-	NC_000003.12:g.41225743T>C	gnomAD
CTNNB1	P35222	p.Val273Met	rs1183899293	missense variant	-	NC_000003.12:g.41225742G>A	gnomAD
CTNNB1	P35222	p.Arg274His	rs1233296947	missense variant	-	NC_000003.12:g.41225746G>A	gnomAD
CTNNB1	P35222	p.Arg274Cys	rs1323014360	missense variant	-	NC_000003.12:g.41225745C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gly277Ser	rs762074528	missense variant	-	NC_000003.12:g.41225754G>A	ExAC,gnomAD
CTNNB1	P35222	p.Lys281Ter	rs1057520556	stop gained	-	NC_000003.12:g.41225766A>T	-
CTNNB1	P35222	p.Lys281Ter	RCV000422243	nonsense	-	NC_000003.12:g.41225766A>T	ClinVar
CTNNB1	P35222	p.Met282Thr	rs770030043	missense variant	-	NC_000003.12:g.41225770T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	rs35288908	missense variant	-	NC_000003.12:g.41225785A>G	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn287His	rs766853534	missense variant	-	NC_000003.12:g.41225784A>C	ExAC,gnomAD
CTNNB1	P35222	p.Asn287Ser	RCV000120622	missense variant	-	NC_000003.12:g.41225785A>G	ClinVar
CTNNB1	P35222	p.Thr289Ter	RCV000677414	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225790_41225792delinsCC	ClinVar
CTNNB1	P35222	p.Asn290Asp	rs1292334493	missense variant	-	NC_000003.12:g.41225793A>G	TOPMed
CTNNB1	P35222	p.Thr297Met	rs759085197	missense variant	-	NC_000003.12:g.41225815C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gln309Glu	rs376393123	missense variant	-	NC_000003.12:g.41225850C>G	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	rs376393123	stop gained	-	NC_000003.12:g.41225850C>T	ESP,ExAC
CTNNB1	P35222	p.Gln309Ter	RCV000032860	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41225850C>T	ClinVar
CTNNB1	P35222	p.Ser311Gly	rs755788748	missense variant	-	NC_000003.12:g.41225856A>G	ExAC,gnomAD
CTNNB1	P35222	p.Leu313Phe	rs1270698911	missense variant	-	NC_000003.12:g.41227208C>T	gnomAD
CTNNB1	P35222	p.Ile315Val	rs1214328620	missense variant	-	NC_000003.12:g.41227214A>G	TOPMed
CTNNB1	P35222	p.Ala317Pro	rs1361178030	missense variant	-	NC_000003.12:g.41227220G>C	gnomAD
CTNNB1	P35222	p.Ser318Asn	rs752184222	missense variant	-	NC_000003.12:g.41227224G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ser318Arg	rs760272296	missense variant	-	NC_000003.12:g.41227225T>A	ExAC,gnomAD
CTNNB1	P35222	p.Gly320Glu	rs1348918944	missense variant	-	NC_000003.12:g.41227230G>A	gnomAD
CTNNB1	P35222	p.Pro321Ter	RCV000627453	frameshift	-	NC_000003.12:g.41227230dup	ClinVar
CTNNB1	P35222	p.Asn326His	rs1319210904	missense variant	-	NC_000003.12:g.41227247A>C	TOPMed
CTNNB1	P35222	p.Ile327Leu	rs753499163	missense variant	-	NC_000003.12:g.41227250A>T	ExAC,gnomAD
CTNNB1	P35222	p.Met328Thr	rs1242107231	missense variant	-	NC_000003.12:g.41227254T>C	gnomAD
CTNNB1	P35222	p.Tyr333Ter	rs886041281	stop gained	-	NC_000003.12:g.41227269dup	-
CTNNB1	P35222	p.Tyr333Ter	rs778624338	stop gained	-	NC_000003.12:g.41227270C>A	ExAC,gnomAD
CTNNB1	P35222	p.Tyr333Ter	RCV000300794	nonsense	-	NC_000003.12:g.41227269dup	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000624466	nonsense	Inborn genetic diseases	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Tyr333Ter	RCV000522499	nonsense	-	NC_000003.12:g.41227270C>A	ClinVar
CTNNB1	P35222	p.Glu334Lys	rs1245266458	missense variant	-	NC_000003.12:g.41227271G>A	TOPMed
CTNNB1	P35222	p.Trp338Cys	rs1454068577	missense variant	-	NC_000003.12:g.41227285G>T	gnomAD
CTNNB1	P35222	p.Thr339Ile	rs758291562	missense variant	-	NC_000003.12:g.41227287C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ser348Ter	RCV000338847	frameshift	-	NC_000003.12:g.41227314_41227315del	ClinVar
CTNNB1	P35222	p.Ser351Phe	rs1379671563	missense variant	-	NC_000003.12:g.41227323C>T	TOPMed
CTNNB1	P35222	p.Pro355Leu	rs769825609	missense variant	-	NC_000003.12:g.41227335C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Val	rs575671885	missense variant	-	NC_000003.12:g.41227340A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile357Thr	rs891968045	missense variant	-	NC_000003.12:g.41227341T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Glu359Lys	rs1423528790	missense variant	-	NC_000003.12:g.41227346G>A	TOPMed
CTNNB1	P35222	p.Ala360Pro	rs1233211339	missense variant	-	NC_000003.12:g.41227349G>C	gnomAD
CTNNB1	P35222	p.Gly361Val	rs1443251066	missense variant	-	NC_000003.12:g.41233341G>T	TOPMed,gnomAD
CTNNB1	P35222	p.Gln364Ter	RCV000760566	nonsense	-	NC_000003.12:g.41233349C>T	ClinVar
CTNNB1	P35222	p.Leu366Ser	rs758207378	missense variant	-	NC_000003.12:g.41233356T>C	ExAC,gnomAD
CTNNB1	P35222	p.Pro373Ser	rs751567042	missense variant	-	NC_000003.12:g.41233376C>T	ExAC,gnomAD
CTNNB1	P35222	p.Asn380Ile	rs1553631770	missense variant	-	NC_000003.12:g.41233398A>T	-
CTNNB1	P35222	p.Asn380Ile	RCV000623772	missense variant	Inborn genetic diseases	NC_000003.12:g.41233398A>T	ClinVar
CTNNB1	P35222	p.Leu382Pro	RCV000478521	missense variant	-	NC_000003.12:g.41233404T>C	ClinVar
CTNNB1	P35222	p.Leu382Val	rs1275515249	missense variant	-	NC_000003.12:g.41233403C>G	gnomAD
CTNNB1	P35222	p.Leu382Pro	rs1064796240	missense variant	-	NC_000003.12:g.41233404T>C	-
CTNNB1	P35222	p.Asn387Lys	rs868651538	missense variant	-	NC_000003.12:g.41233420T>A	-
CTNNB1	P35222	p.Asn387Ter	RCV000623816	frameshift	Inborn genetic diseases	NC_000003.12:g.41233417del	ClinVar
CTNNB1	P35222	p.Leu388Pro	RCV000679959	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233422T>C	ClinVar
CTNNB1	P35222	p.Leu388Pro	VAR_072282	Missense	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Lys394Glu	rs1418552051	missense variant	-	NC_000003.12:g.41233439A>G	gnomAD
CTNNB1	P35222	p.Glu396Asp	rs751375496	missense variant	-	NC_000003.12:g.41233531A>C	ExAC,gnomAD
CTNNB1	P35222	p.Met398Thr	rs1405053019	missense variant	-	NC_000003.12:g.41233536T>C	TOPMed
CTNNB1	P35222	p.Leu402Phe	rs767491256	missense variant	-	NC_000003.12:g.41233547C>T	ExAC,gnomAD
CTNNB1	P35222	p.Thr404Ile	rs753799399	missense variant	-	NC_000003.12:g.41233554C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu409Met	rs1008276020	missense variant	-	NC_000003.12:g.41233568C>A	TOPMed
CTNNB1	P35222	p.Gly410Ser	rs757415518	missense variant	-	NC_000003.12:g.41233571G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp412Val	rs779273262	missense variant	-	NC_000003.12:g.41233578A>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala421Val	rs1021045139	missense variant	-	NC_000003.12:g.41233605C>T	-
CTNNB1	P35222	p.Ala421Ter	RCV000782021	frameshift	-	NC_000003.12:g.41233604del	ClinVar
CTNNB1	P35222	p.Leu424Arg	RCV000199502	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233614T>G	ClinVar
CTNNB1	P35222	p.Leu424Arg	rs863224864	missense variant	-	NC_000003.12:g.41233614T>G	-
CTNNB1	P35222	p.Ser425Ter	RCV000032858	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233611_41233614TTCT[1]	ClinVar
CTNNB1	P35222	p.Lys433Ter	RCV000678968	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233640A>T	ClinVar
CTNNB1	P35222	p.Met437Val	rs768978318	missense variant	-	NC_000003.12:g.41233652A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val438Ala	rs936090981	missense variant	-	NC_000003.12:g.41233656T>C	TOPMed,gnomAD
CTNNB1	P35222	p.Val438Gly	rs936090981	missense variant	-	NC_000003.12:g.41233656T>G	TOPMed,gnomAD
CTNNB1	P35222	p.Gln440Arg	rs781731106	missense variant	-	NC_000003.12:g.41233662A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly442Ser	rs1299004124	missense variant	-	NC_000003.12:g.41233667G>A	gnomAD
CTNNB1	P35222	p.Glu445Gln	rs747602570	missense variant	-	NC_000003.12:g.41233676G>C	ExAC,gnomAD
CTNNB1	P35222	p.Leu447Phe	rs769363745	missense variant	-	NC_000003.12:g.41233682C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Leu447Val	rs769363745	missense variant	-	NC_000003.12:g.41233682C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val448Leu	rs772823421	missense variant	-	NC_000003.12:g.41233685G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg449His	rs1198223590	missense variant	-	NC_000003.12:g.41233689G>A	gnomAD
CTNNB1	P35222	p.Val451Ile	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Val451Leu	rs1447487057	missense variant	-	NC_000003.12:g.41233694G>C	TOPMed,gnomAD
CTNNB1	P35222	p.Leu452Ter	RCV000598755	frameshift	-	NC_000003.12:g.41233697_41233698delinsG	ClinVar
CTNNB1	P35222	p.Arg453Trp	rs770598744	missense variant	-	NC_000003.12:g.41233700C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Glu458Asp	rs1553631848	missense variant	-	NC_000003.12:g.41233717A>C	-
CTNNB1	P35222	p.Glu458Asp	RCV000505598	missense variant	Renal cell carcinoma, papillary, 1 (RCCP1)	NC_000003.12:g.41233717A>C	ClinVar
CTNNB1	P35222	p.Pro463Thr	rs1297519016	missense variant	-	NC_000003.12:g.41233730C>A	TOPMed
CTNNB1	P35222	p.Ile465Val	rs1394698950	missense variant	-	NC_000003.12:g.41233736A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Leu468Phe	rs1433004172	missense variant	-	NC_000003.12:g.41233745C>T	gnomAD
CTNNB1	P35222	p.Thr472Pro	rs1386360637	missense variant	-	NC_000003.12:g.41233757A>C	gnomAD
CTNNB1	P35222	p.Arg474Ter	rs1553631860	stop gained	-	NC_000003.12:g.41233763C>T	-
CTNNB1	P35222	p.Arg474Ter	RCV000677408	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233763C>T	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000495846	frameshift	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Glu479Ter	RCV000416683	frameshift	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41233777_41233778insC	ClinVar
CTNNB1	P35222	p.Gln482Ter	RCV000734961	nonsense	-	NC_000003.12:g.41233787C>T	ClinVar
CTNNB1	P35222	p.Ala484Val	rs1316791736	missense variant	-	NC_000003.12:g.41233794C>T	gnomAD
CTNNB1	P35222	p.Arg486His	rs750554859	missense variant	-	NC_000003.12:g.41233800G>A	ExAC,gnomAD
CTNNB1	P35222	p.Arg486Cys	rs113411271	missense variant	-	NC_000003.12:g.41233799C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg486Ser	rs113411271	missense variant	-	NC_000003.12:g.41233799C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr489Cys	rs780428505	missense variant	-	NC_000003.12:g.41233809A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Val494Ala	rs1204504884	missense variant	-	NC_000003.12:g.41233824T>C	gnomAD
CTNNB1	P35222	p.His499Ter	RCV000627529	frameshift	-	NC_000003.12:g.41233837dup	ClinVar
CTNNB1	P35222	p.His499Asn	rs1009476273	missense variant	-	NC_000003.12:g.41233838C>A	TOPMed
CTNNB1	P35222	p.Ser502Pro	rs751814202	missense variant	-	NC_000003.12:g.41233847T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg515Ter	RCV000032859	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Arg515Ter	rs397514554	stop gained	-	NC_000003.12:g.41234157C>T	-
CTNNB1	P35222	p.Arg515Ter	RCV000255163	nonsense	-	NC_000003.12:g.41234157C>T	ClinVar
CTNNB1	P35222	p.Cys520Ser	rs1465536580	missense variant	-	NC_000003.12:g.41234173G>C	TOPMed
CTNNB1	P35222	p.Pro521Ser	rs774271551	missense variant	-	NC_000003.12:g.41234175C>T	gnomAD
CTNNB1	P35222	p.Pro521Ala	rs774271551	missense variant	-	NC_000003.12:g.41234175C>G	gnomAD
CTNNB1	P35222	p.Pro521Leu	rs1305741896	missense variant	-	NC_000003.12:g.41234176C>T	gnomAD
CTNNB1	P35222	p.Ala522Ser	rs764576683	missense variant	-	NC_000003.12:g.41234178G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ala522Thr	rs764576683	missense variant	-	NC_000003.12:g.41234178G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn523Ser	rs754382114	missense variant	-	NC_000003.12:g.41234182A>G	ExAC,gnomAD
CTNNB1	P35222	p.His524Arg	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>G	TOPMed,gnomAD
CTNNB1	P35222	p.His524Leu	rs1376864427	missense variant	-	NC_000003.12:g.41234185A>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu527Ter	RCV000442337	nonsense	-	NC_000003.12:g.41234194T>A	ClinVar
CTNNB1	P35222	p.Leu527Ter	rs1057520730	stop gained	-	NC_000003.12:g.41234194T>A	-
CTNNB1	P35222	p.Arg528Cys	rs756737848	missense variant	-	NC_000003.12:g.41234196C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gln530Ter	RCV000735236	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234202C>T	ClinVar
CTNNB1	P35222	p.Ile533Val	rs587778220	missense variant	-	NC_000003.12:g.41234211A>G	-
CTNNB1	P35222	p.Ile533Val	RCV000120619	missense variant	-	NC_000003.12:g.41234211A>G	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000255131	nonsense	-	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	RCV000495849	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234217C>T	ClinVar
CTNNB1	P35222	p.Arg535Ter	rs886039332	stop gained	-	NC_000003.12:g.41234217C>T	-
CTNNB1	P35222	p.Arg542His	rs551257843	missense variant	-	NC_000003.12:g.41234239G>A	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Thr547Ser	rs758002835	missense variant	-	NC_000003.12:g.41234253A>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg549Cys	rs1210247690	missense variant	-	NC_000003.12:g.41234259C>T	gnomAD
CTNNB1	P35222	p.Arg550His	rs779588249	missense variant	-	NC_000003.12:g.41234263G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Thr551Ala	rs1187571366	missense variant	-	NC_000003.12:g.41234265A>G	gnomAD
CTNNB1	P35222	p.Met553Thr	rs1328515384	missense variant	-	NC_000003.12:g.41234272T>C	TOPMed
CTNNB1	P35222	p.Met553Val	rs199593411	missense variant	-	NC_000003.12:g.41234271A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly554Cys	rs748148797	missense variant	-	NC_000003.12:g.41234274G>T	ExAC
CTNNB1	P35222	p.Gly555Glu	rs186068630	missense variant	-	NC_000003.12:g.41234278G>A	1000Genomes
CTNNB1	P35222	p.Thr556Ala	rs1266504473	missense variant	-	NC_000003.12:g.41234280A>G	TOPMed
CTNNB1	P35222	p.Gln558Ter	RCV000495837	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41234286C>T	ClinVar
CTNNB1	P35222	p.Gln558Ter	rs1131692181	stop gained	-	NC_000003.12:g.41234286C>T	-
CTNNB1	P35222	p.Gln558_Leu781del	VAR_079199	inframe_deletion	Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]	-	UniProt
CTNNB1	P35222	p.Gly563Glu	rs745951696	missense variant	-	NC_000003.12:g.41235728G>A	ExAC,gnomAD
CTNNB1	P35222	p.Val564Ala	rs772081115	missense variant	-	NC_000003.12:g.41235731T>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg565His	rs760837728	missense variant	-	NC_000003.12:g.41235734G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg565Cys	rs775666001	missense variant	-	NC_000003.12:g.41235733C>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile569Arg	rs1436053000	missense variant	-	NC_000003.12:g.41235746T>G	gnomAD
CTNNB1	P35222	p.Gly572Asp	rs1273240803	missense variant	-	NC_000003.12:g.41235755G>A	gnomAD
CTNNB1	P35222	p.Gly575Arg	RCV000190686	missense variant	Inborn genetic diseases	NC_000003.12:g.41235763G>A	ClinVar
CTNNB1	P35222	p.Gly575Arg	rs797044875	missense variant	-	NC_000003.12:g.41235763G>A	-
CTNNB1	P35222	p.Ala581Val	rs762099762	missense variant	-	NC_000003.12:g.41235782C>T	ExAC,gnomAD
CTNNB1	P35222	p.Ala581Thr	rs1215990470	missense variant	-	NC_000003.12:g.41235781G>A	gnomAD
CTNNB1	P35222	p.His585Asp	rs765762800	missense variant	-	NC_000003.12:g.41235793C>G	ExAC,gnomAD
CTNNB1	P35222	p.His585Pro	rs1220395399	missense variant	-	NC_000003.12:g.41235794A>C	gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000624883	nonsense	Inborn genetic diseases	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Arg587Ter	rs1064796453	stop gained	-	NC_000003.12:g.41235799C>T	TOPMed
CTNNB1	P35222	p.Arg587Pro	rs762495207	missense variant	-	NC_000003.12:g.41235800G>C	ExAC,gnomAD
CTNNB1	P35222	p.Arg587Ter	RCV000486133	nonsense	-	NC_000003.12:g.41235799C>T	ClinVar
CTNNB1	P35222	p.Ile588Leu	rs1177261399	missense variant	-	NC_000003.12:g.41235802A>C	gnomAD
CTNNB1	P35222	p.Asn594Ser	rs766038845	missense variant	-	NC_000003.12:g.41235821A>G	ExAC,gnomAD
CTNNB1	P35222	p.Ile596Val	rs751139724	missense variant	-	NC_000003.12:g.41235826A>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1404476844	missense variant	-	NC_000003.12:g.41235837T>G	gnomAD
CTNNB1	P35222	p.Phe599Leu	rs1410068456	missense variant	-	NC_000003.12:g.41235835T>C	gnomAD
CTNNB1	P35222	p.Ser605Phe	rs759171472	missense variant	-	NC_000003.12:g.41236359C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro606Leu	rs1306221365	missense variant	-	NC_000003.12:g.41236362C>T	TOPMed
CTNNB1	P35222	p.Ile607Phe	rs1212384026	missense variant	-	NC_000003.12:g.41236364A>T	gnomAD
CTNNB1	P35222	p.Asn609Asp	rs752328115	missense variant	-	NC_000003.12:g.41236370A>G	ExAC,gnomAD
CTNNB1	P35222	p.Val617Ile	rs1168206875	missense variant	-	NC_000003.12:g.41236394G>A	gnomAD
CTNNB1	P35222	p.Leu621Phe	rs1436728556	missense variant	-	NC_000003.12:g.41236406C>T	gnomAD
CTNNB1	P35222	p.Gln623Ter	RCV000203130	nonsense	-	NC_000003.12:g.41236412C>T	ClinVar
CTNNB1	P35222	p.Gln623Ter	rs864309577	stop gained	-	NC_000003.12:g.41236412C>T	-
CTNNB1	P35222	p.Lys625Arg	rs1174315329	missense variant	-	NC_000003.12:g.41236419A>G	gnomAD
CTNNB1	P35222	p.Glu626Ter	rs1553632357	stop gained	-	NC_000003.12:g.41236421G>T	-
CTNNB1	P35222	p.Glu626Ter	RCV000626747	nonsense	Imperforate anus	NC_000003.12:g.41236421G>T	ClinVar
CTNNB1	P35222	p.Ala630Ser	rs778834508	missense variant	-	NC_000003.12:g.41236433G>T	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ile631Val	rs898106111	missense variant	-	NC_000003.12:g.41236436A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Pro639Ser	rs1304150324	missense variant	-	NC_000003.12:g.41236460C>T	TOPMed
CTNNB1	P35222	p.Glu642Ter	RCV000598918	frameshift	-	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Glu642Ter	RCV000624274	frameshift	Inborn genetic diseases	NC_000003.12:g.41236468_41236469AG[1]	ClinVar
CTNNB1	P35222	p.Ser646Cys	rs755119590	missense variant	-	NC_000003.12:g.41236482C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ser646Phe	rs755119590	missense variant	-	NC_000003.12:g.41236482C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg647Gly	rs1296486135	missense variant	-	NC_000003.12:g.41236484A>G	gnomAD
CTNNB1	P35222	p.Asn648Ser	rs755534201	missense variant	-	NC_000003.12:g.41236488A>G	TOPMed,gnomAD
CTNNB1	P35222	p.Ala652Val	rs1031583127	missense variant	-	NC_000003.12:g.41236588C>T	gnomAD
CTNNB1	P35222	p.Tyr654Ter	rs750402920	stop gained	-	NC_000003.12:g.41236595T>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Tyr654Ter	RCV000329795	nonsense	-	NC_000003.12:g.41236595T>G	ClinVar
CTNNB1	P35222	p.Val658Phe	rs755029715	missense variant	-	NC_000003.12:g.41236605G>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000494679	nonsense	-	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Arg661Ter	rs748294403	stop gained	-	NC_000003.12:g.41236614C>T	ExAC
CTNNB1	P35222	p.Arg661Ter	RCV000851495	nonsense	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236614C>T	ClinVar
CTNNB1	P35222	p.Met662Leu	rs778073244	missense variant	-	NC_000003.12:g.41236617A>T	ExAC
CTNNB1	P35222	p.Met662Ile	rs749661798	missense variant	-	NC_000003.12:g.41236619G>T	ExAC
CTNNB1	P35222	p.Ser663Tyr	rs771458640	missense variant	-	NC_000003.12:g.41236621C>A	ExAC
CTNNB1	P35222	p.Ser663Phe	rs771458640	missense variant	-	NC_000003.12:g.41236621C>T	ExAC
CTNNB1	P35222	p.Ser663Cys	rs771458640	missense variant	-	NC_000003.12:g.41236621C>G	ExAC
CTNNB1	P35222	p.Glu664Ter	rs760245475	stop gained	-	NC_000003.12:g.41236623G>T	ExAC
CTNNB1	P35222	p.Glu664Gly	rs763639110	missense variant	-	NC_000003.12:g.41236624A>G	ExAC
CTNNB1	P35222	p.Asp665Tyr	rs761565235	missense variant	-	NC_000003.12:g.41236626G>T	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Asn	rs761565235	missense variant	-	NC_000003.12:g.41236626G>A	ExAC,gnomAD
CTNNB1	P35222	p.Asp665His	rs761565235	missense variant	-	NC_000003.12:g.41236626G>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp665Glu	rs77750814	missense variant	-	NC_000003.12:g.41236628C>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro667Ser	rs756281365	missense variant	-	NC_000003.12:g.41236632C>T	ExAC,TOPMed
CTNNB1	P35222	p.Gln668Arg	rs754160678	missense variant	-	NC_000003.12:g.41236636A>G	ExAC,gnomAD
CTNNB1	P35222	p.Arg673Gln	rs1188330297	missense variant	-	NC_000003.12:g.41236651G>A	TOPMed
CTNNB1	P35222	p.Ser681Phe	rs772401455	missense variant	-	NC_000003.12:g.41236675C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro687Ala	rs1308481359	missense variant	-	NC_000003.12:g.41236692C>G	gnomAD
CTNNB1	P35222	p.Met688Ile	rs1227734411	missense variant	-	NC_000003.12:g.41236697G>T	gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Met688Val	rs4135384	missense variant	-	NC_000003.12:g.41236695A>G	UniProt,dbSNP
CTNNB1	P35222	p.Met688Val	VAR_018954	missense variant	-	NC_000003.12:g.41236695A>G	UniProt
CTNNB1	P35222	p.Ala689Thr	rs898060604	missense variant	-	NC_000003.12:g.41236698G>A	TOPMed,gnomAD
CTNNB1	P35222	p.Trp690Ter	RCV000627341	nonsense	-	NC_000003.12:g.41236702G>A	ClinVar
CTNNB1	P35222	p.Trp690Ter	rs1553632412	stop gained	-	NC_000003.12:g.41236702G>A	-
CTNNB1	P35222	p.Glu692Asp	RCV000681631	missense variant	Mental retardation, autosomal dominant 19 (NEDSDV)	NC_000003.12:g.41236709G>C	ClinVar
CTNNB1	P35222	p.Ala694Val	rs769068251	missense variant	-	NC_000003.12:g.41238020C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Phe	rs769381974	missense variant	-	NC_000003.12:g.41238031C>T	ExAC,gnomAD
CTNNB1	P35222	p.Leu698Ile	rs769381974	missense variant	-	NC_000003.12:g.41238031C>A	ExAC,gnomAD
CTNNB1	P35222	p.Ile700Leu	rs772910638	missense variant	-	NC_000003.12:g.41238037A>C	ExAC,gnomAD
CTNNB1	P35222	p.Ala702Val	rs1376703203	missense variant	-	NC_000003.12:g.41238044C>T	gnomAD
CTNNB1	P35222	p.Ala702Thr	rs1302131125	missense variant	-	NC_000003.12:g.41238043G>A	gnomAD
CTNNB1	P35222	p.Gln703Pro	rs1437006903	missense variant	-	NC_000003.12:g.41238047A>C	gnomAD
CTNNB1	P35222	p.Glu705Lys	rs762655300	missense variant	-	NC_000003.12:g.41238052G>A	ExAC,gnomAD
CTNNB1	P35222	p.Glu705Ter	RCV000782002	frameshift	-	NC_000003.12:g.41238051dup	ClinVar
CTNNB1	P35222	p.Pro706Leu	rs1482609443	missense variant	-	NC_000003.12:g.41238056C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Leu707Phe	rs770804258	missense variant	-	NC_000003.12:g.41238058C>T	ExAC,gnomAD
CTNNB1	P35222	p.Gly708Val	rs774035744	missense variant	-	NC_000003.12:g.41238062G>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg710His	rs200308943	missense variant	-	NC_000003.12:g.41238068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	rs748653573	missense variant	-	NC_000003.12:g.41238067C>T	TOPMed,gnomAD
CTNNB1	P35222	p.Arg710Cys	RCV000495850	missense variant	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Cys	RCV000416748	missense variant	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41238067C>T	ClinVar
CTNNB1	P35222	p.Arg710Ser	rs748653573	missense variant	-	NC_000003.12:g.41238067C>A	TOPMed,gnomAD
CTNNB1	P35222	p.ProSerTyrArgSerPhe714ProSerTyrArgSerPheTerLeuSerPhePheUnk	rs1057519380	stop gained	-	NC_000003.12:g.41239138_41239153dup	-
CTNNB1	P35222	p.Pro714Ser	rs1260498461	missense variant	-	NC_000003.12:g.41239136C>T	TOPMed
CTNNB1	P35222	p.Ser715Thr	rs755359135	missense variant	-	NC_000003.12:g.41239140G>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr716Phe	rs1248210231	missense variant	-	NC_000003.12:g.41239143A>T	TOPMed
CTNNB1	P35222	p.Arg717Cys	rs768012106	missense variant	-	NC_000003.12:g.41239145C>T	ExAC,gnomAD
CTNNB1	P35222	p.Arg717His	rs753246841	missense variant	-	NC_000003.12:g.41239146G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Ser718Cys	rs756632297	missense variant	-	NC_000003.12:g.41239149C>G	ExAC,gnomAD
CTNNB1	P35222	p.Phe719Leu	rs1230378066	missense variant	-	NC_000003.12:g.41239153T>G	TOPMed,gnomAD
CTNNB1	P35222	p.His720Ter	RCV000416893	nonsense	Exudative vitreoretinopathy 1 (EVR1)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Ter	RCV000495836	nonsense	EXUDATIVE VITREORETINOPATHY 7 (EVR7)	NC_000003.12:g.41239138_41239153dup	ClinVar
CTNNB1	P35222	p.His720Pro	rs777221523	missense variant	-	NC_000003.12:g.41239155A>C	ExAC,gnomAD
CTNNB1	P35222	p.Tyr724Cys	rs748749625	missense variant	-	NC_000003.12:g.41239167A>G	ExAC,gnomAD
CTNNB1	P35222	p.Gly725Ser	rs756875168	missense variant	-	NC_000003.12:g.41239169G>A	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	rs797045504	missense variant	-	NC_000003.12:g.41239178G>C	-
CTNNB1	P35222	p.Ala728Gly	rs745670329	missense variant	-	NC_000003.12:g.41239179C>G	ExAC,gnomAD
CTNNB1	P35222	p.Ala728Pro	RCV000192556	missense variant	-	NC_000003.12:g.41239178G>C	ClinVar
CTNNB1	P35222	p.Leu729Ser	rs1411144383	missense variant	-	NC_000003.12:g.41239182T>C	gnomAD
CTNNB1	P35222	p.Gly730Ser	rs1471514536	missense variant	-	NC_000003.12:g.41239184G>A	gnomAD
CTNNB1	P35222	p.Met731Val	rs1293529882	missense variant	-	NC_000003.12:g.41239187A>G	TOPMed
CTNNB1	P35222	p.Asp732Glu	rs772033082	missense variant	-	NC_000003.12:g.41239192C>A	ExAC,gnomAD
CTNNB1	P35222	p.Met734Ile	rs1366225605	missense variant	-	NC_000003.12:g.41239198G>C	TOPMed
CTNNB1	P35222	p.Met735Val	rs1405010887	missense variant	-	NC_000003.12:g.41239199A>G	gnomAD
CTNNB1	P35222	p.His737Arg	rs746895877	missense variant	-	NC_000003.12:g.41239206A>G	ExAC,gnomAD
CTNNB1	P35222	p.Met739Ile	rs768746130	missense variant	-	NC_000003.12:g.41239213G>A	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Gly740Asp	rs1438939521	missense variant	-	NC_000003.12:g.41239215G>A	TOPMed
CTNNB1	P35222	p.Gly740Arg	rs773278783	missense variant	-	NC_000003.12:g.41239214G>C	ExAC,gnomAD
CTNNB1	P35222	p.Gly741Ser	rs1308020513	missense variant	-	NC_000003.12:g.41239217G>A	gnomAD
CTNNB1	P35222	p.His743Tyr	rs759866899	missense variant	-	NC_000003.12:g.41239223C>T	ExAC,gnomAD
CTNNB1	P35222	p.Pro744Arg	rs1356035016	missense variant	-	NC_000003.12:g.41239227C>G	gnomAD
CTNNB1	P35222	p.Asp747Val	rs1458355986	missense variant	-	NC_000003.12:g.41239236A>T	TOPMed
CTNNB1	P35222	p.Val750Ala	rs753089121	missense variant	-	NC_000003.12:g.41239245T>C	ExAC,gnomAD
CTNNB1	P35222	p.Asp751Asn	rs1343763001	missense variant	-	NC_000003.12:g.41239247G>A	gnomAD
CTNNB1	P35222	p.Gly752Ala	rs373158451	missense variant	-	NC_000003.12:g.41239251G>C	ESP,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Glu	rs200991012	missense variant	-	NC_000003.12:g.41239261T>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asp755Gly	rs1167738636	missense variant	-	NC_000003.12:g.41239260A>G	TOPMed
CTNNB1	P35222	p.Gln760Glu	rs980453294	missense variant	-	NC_000003.12:g.41239274C>G	TOPMed
CTNNB1	P35222	p.Asp764Asn	rs1189472809	missense variant	-	NC_000003.12:g.41239286G>A	gnomAD
CTNNB1	P35222	p.Leu766Pro	rs1237849101	missense variant	-	NC_000003.12:g.41239293T>C	gnomAD
CTNNB1	P35222	p.Pro767Ser	rs1180402965	missense variant	-	NC_000003.12:g.41239295C>T	gnomAD
CTNNB1	P35222	p.Pro767Arg	rs756782457	missense variant	-	NC_000003.12:g.41239296C>G	ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Pro768Leu	rs377050808	missense variant	-	NC_000003.12:g.41239299C>T	ESP
CTNNB1	P35222	p.Gly769Val	rs1430541681	missense variant	-	NC_000003.12:g.41239302G>T	gnomAD
CTNNB1	P35222	p.Asp770His	rs778596324	missense variant	-	NC_000003.12:g.41239304G>C	ExAC,gnomAD
CTNNB1	P35222	p.Ser771Thr	rs1480609787	missense variant	-	NC_000003.12:g.41239308G>C	TOPMed
CTNNB1	P35222	p.Ser771Gly	rs1221104083	missense variant	-	NC_000003.12:g.41239307A>G	gnomAD
CTNNB1	P35222	p.Asn772Ser	rs138501547	missense variant	-	NC_000003.12:g.41239311A>G	1000Genomes,ExAC,TOPMed,gnomAD
CTNNB1	P35222	p.Asn772Asp	rs569666187	missense variant	-	NC_000003.12:g.41239310A>G	1000Genomes,ExAC,gnomAD
CTNNB1	P35222	p.Gln773Glu	rs779955747	missense variant	-	NC_000003.12:g.41239313C>G	ExAC,gnomAD
CTNNB1	P35222	p.Gln773His	rs1340254110	missense variant	-	NC_000003.12:g.41239315G>T	gnomAD
CTNNB1	P35222	p.Ala775Ser	rs1312540894	missense variant	-	NC_000003.12:g.41239319G>T	gnomAD
CTNNB1	P35222	p.Ala775Val	rs1302757202	missense variant	-	NC_000003.12:g.41239320C>T	TOPMed
PCGF2	P35227	p.His2Pro	rs1164566149	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541185T>G	TOPMed,gnomAD
PCGF2	P35227	p.Arg3Leu	rs774706646	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541182C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg3Gln	rs774706646	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541182C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg6Gln	rs779496705	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541173C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg6Gly	rs749819496	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541174G>C	ExAC,gnomAD
PCGF2	P35227	p.Arg6Trp	rs749819496	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541174G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr10Arg	rs1251160108	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541161G>C	gnomAD
PCGF2	P35227	p.Pro14Thr	rs780765988	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541150G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Ile	rs757069949	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541144G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Phe	rs757069949	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541144G>A	ExAC,gnomAD
PCGF2	P35227	p.Met17Ile	rs751245494	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541139C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala19Pro	rs777722903	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541135C>G	ExAC,gnomAD
PCGF2	P35227	p.Leu20Ile	rs1335630874	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541132G>T	gnomAD
PCGF2	P35227	p.Gly22Arg	rs752723799	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541126C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly22Trp	rs752723799	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541126C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly23Glu	rs1388718872	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541122C>T	gnomAD
PCGF2	P35227	p.Asp27Asn	rs1420332509	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541111C>T	gnomAD
PCGF2	P35227	p.Ala28Thr	rs968126661	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541108C>T	gnomAD
PCGF2	P35227	p.Thr29Ile	rs767571747	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541104G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ile31Met	rs774651597	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541097G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val32Met	rs140843241	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541096C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe38Leu	rs1352006959	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541078A>G	TOPMed
PCGF2	P35227	p.Thr41Ala	rs770516158	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540461T>C	ExAC,gnomAD
PCGF2	P35227	p.Val44Met	rs1412561472	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540452C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg45Cys	rs147291159	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540449G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg45His	rs145569563	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540448C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu48Asp	rs778786385	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540438C>A	ExAC,gnomAD
PCGF2	P35227	p.Asn50Ser	rs369222947	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540433T>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn50Lys	rs750977866	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540432G>C	gnomAD
PCGF2	P35227	p.Tyr52His	rs749282221	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540428A>G	ExAC,gnomAD
PCGF2	P35227	p.Asp57Glu	rs781097488	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540411G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Gly	rs764363872	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540409A>C	ExAC,gnomAD
PCGF2	P35227	p.Val58Met	rs376422988	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540410C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Glu	rs764363872	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540409A>T	ExAC,gnomAD
PCGF2	P35227	p.Gln59Pro	rs758623811	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540406T>G	ExAC,gnomAD
PCGF2	P35227	p.Thr63Ile	rs753001499	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540394G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Gln	rs1270907226	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540391C>T	gnomAD
PCGF2	P35227	p.Arg64Trp	rs765654378	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540392G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro65Ser	RCV000766185	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739602G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	RCV000758165	missense variant	-	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	RCV000766184	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	VAR_082085	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Pro65Ser	VAR_082086	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Leu66Gln	rs1407101094	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540385A>T	TOPMed
PCGF2	P35227	p.Ser68Asn	rs765795827	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540379C>T	ExAC,gnomAD
PCGF2	P35227	p.Ile69Val	rs760327885	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540377T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser71Phe	rs1461367779	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540038G>A	TOPMed
PCGF2	P35227	p.Lys73Arg	rs754174211	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540032T>C	ExAC,gnomAD
PCGF2	P35227	p.Lys73Glu	rs371103302	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540033T>C	ESP,TOPMed
PCGF2	P35227	p.Leu82Phe	rs780591825	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540004C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp89Asn	rs756653107	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539985C>T	ExAC,gnomAD
PCGF2	P35227	p.Met91Val	rs1195772306	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539900T>C	TOPMed,gnomAD
PCGF2	P35227	p.Arg93Leu	rs1259877550	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539893C>A	gnomAD
PCGF2	P35227	p.Arg93Trp	rs768877758	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539894G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg94Gln	rs780536842	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539890C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg94Trp	rs749508532	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539891G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg95Trp	rs200480241	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539888G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg95Gln	rs746360625	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539887C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe97Leu	rs757705562	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539880G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala99Gly	rs1412330889	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539875G>C	TOPMed
PCGF2	P35227	p.Ala100Val	rs763533799	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539872G>A	ExAC,gnomAD
PCGF2	P35227	p.Tyr101Cys	rs1011253528	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539869T>C	TOPMed
PCGF2	P35227	p.Pro102Ser	rs764992830	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539867G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr104Met	rs759394608	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539860G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Asp	rs771238828	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539639C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Val	rs771238828	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539639C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Arg	rs777012498	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539640C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Ser	rs777012498	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539640C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser110Tyr	rs1163873738	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539636G>T	gnomAD
PCGF2	P35227	p.Asn111Ile	rs201412419	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539633T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn111Lys	rs1320317505	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539632A>T	TOPMed
PCGF2	P35227	p.Asn111Ser	rs201412419	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539633T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp113Glu	rs1370117279	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539626G>T	gnomAD
PCGF2	P35227	p.Arg114His	rs554363495	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539624C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg114Cys	rs778201270	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539625G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg114Leu	rs554363495	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539624C>A	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Gly115Ser	rs778419447	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539622C>T	ExAC,gnomAD
PCGF2	P35227	p.Gly115Asp	rs754586944	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539621C>T	ExAC,gnomAD
PCGF2	P35227	p.Glu116Lys	rs779878626	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539619C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln120Glu	rs958236122	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539607G>C	TOPMed,gnomAD
PCGF2	P35227	p.Lys122Asn	rs1369036219	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539599C>G	gnomAD
PCGF2	P35227	p.Ala124Val	rs1411468690	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539594G>A	TOPMed
PCGF2	P35227	p.Ala124Thr	rs1034297638	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539595C>T	TOPMed,gnomAD
PCGF2	P35227	p.Ser126Asn	rs377546846	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539588C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp128Glu	rs761851035	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539581A>T	ExAC,gnomAD
PCGF2	P35227	p.Glu129Val	rs752773081	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539579T>A	ExAC,gnomAD
PCGF2	P35227	p.Ile130Thr	rs765435276	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539576A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu136Asp	rs1251984310	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539557T>G	gnomAD
PCGF2	P35227	p.Glu136Gly	rs1296507529	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539558T>C	TOPMed
PCGF2	P35227	p.Glu136Lys	rs373487471	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539559C>T	1000Genomes,ESP,ExAC,gnomAD
PCGF2	P35227	p.Glu139Lys	rs201164684	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539550C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly140Asp	rs1351561671	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539546C>T	gnomAD
PCGF2	P35227	p.Ala141Thr	rs772521169	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539544C>T	ExAC
PCGF2	P35227	p.Arg142Ser	rs1311059696	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539382C>A	TOPMed
PCGF2	P35227	p.Asp143Val	rs1347323535	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539380T>A	gnomAD
PCGF2	P35227	p.Arg144Gly	rs199504647	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539378G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Leu	rs773410790	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539377C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Trp	rs199504647	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539378G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gln	rs773410790	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539377C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp145His	rs1443579650	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539375C>G	TOPMed
PCGF2	P35227	p.Glu146Lys	rs1412816395	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539372C>T	gnomAD
PCGF2	P35227	p.Lys147Asn	rs774898974	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539367C>G	ExAC,gnomAD
PCGF2	P35227	p.Lys147Gln	rs1237441991	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539369T>G	TOPMed
PCGF2	P35227	p.Lys147Thr	rs1374779710	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539368T>G	gnomAD
PCGF2	P35227	p.Gly149Arg	rs1416945236	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539363C>G	gnomAD
PCGF2	P35227	p.Pro150Ser	rs1167009859	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539360G>A	gnomAD
PCGF2	P35227	p.Leu151Pro	rs748683854	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539356A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu152Lys	rs775075296	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539354C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp157Glu	rs142427824	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539337G>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly162Arg	rs745485150	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539232C>G	ExAC,gnomAD
PCGF2	P35227	p.Val163Met	rs776481995	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539229C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg164His	rs1027436811	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539225C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg164Cys	rs1378038012	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539226G>A	TOPMed
PCGF2	P35227	p.Arg167Gln	rs746734324	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539216C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg167Ter	rs368479811	stop gained	-	CHR_HSCHR17_7_CTG4:g.38539217G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala170Pro	rs777733534	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539208C>G	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Val	rs758229006	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539202T>C	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val174Ile	rs756277723	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539196C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His176Arg	rs750641343	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539189T>C	ExAC,gnomAD
PCGF2	P35227	p.His176Leu	rs750641343	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539189T>A	ExAC,gnomAD
PCGF2	P35227	p.Lys179Thr	rs757487665	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539180T>G	ExAC,gnomAD
PCGF2	P35227	p.Arg182Cys	rs560971855	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539172G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg182His	rs764470222	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539171C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp186Glu	rs145409234	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539158A>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu194Lys	rs1465655394	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536954C>T	gnomAD
PCGF2	P35227	p.Val195Phe	rs773058381	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536951C>A	ExAC,gnomAD
PCGF2	P35227	p.Val195Ile	rs773058381	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536951C>T	ExAC,gnomAD
PCGF2	P35227	p.Glu198Lys	rs568535028	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536942C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu198Asp	rs768593615	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536940C>G	ExAC,gnomAD
PCGF2	P35227	p.Glu198Gly	rs774034080	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536941T>C	ExAC,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536937G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536937G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Gly	rs749250708	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536938T>C	ExAC,gnomAD
PCGF2	P35227	p.Glu200Lys	rs747215640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536936C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ser	rs1201949138	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536933G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ala	rs1201949138	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536933G>C	TOPMed,gnomAD
PCGF2	P35227	p.Thr207Ala	rs1260959083	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536915T>C	TOPMed
PCGF2	P35227	p.Met209Val	rs1292047416	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536909T>C	TOPMed,gnomAD
PCGF2	P35227	p.Ile211Val	rs1238145871	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536903T>C	TOPMed
PCGF2	P35227	p.Ala212Val	rs1446850294	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536899G>A	TOPMed,gnomAD
PCGF2	P35227	p.Ala212Thr	rs1304683105	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536900C>T	gnomAD
PCGF2	P35227	p.Ile214Val	rs1460622087	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536894T>C	gnomAD
PCGF2	P35227	p.Trp217Ter	rs1171109186	stop gained	-	CHR_HSCHR17_7_CTG4:g.38536883C>T	gnomAD
PCGF2	P35227	p.Arg218Gln	rs774439646	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536881C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg218Trp	rs753047733	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536882G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg219Gln	rs755511901	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536878C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg219Trp	rs1186813888	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536879G>A	gnomAD
PCGF2	P35227	p.Arg219Leu	rs755511901	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536878C>A	ExAC,gnomAD
PCGF2	P35227	p.Asn220Ser	rs773177453	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536386T>C	ExAC,gnomAD
PCGF2	P35227	p.Asn220Tyr	rs202151124	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536387T>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly221Arg	rs748359148	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536384C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro224Leu	rs1242535395	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536374G>A	gnomAD
PCGF2	P35227	p.Leu225Ile	rs1322585642	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536372G>T	TOPMed,gnomAD
PCGF2	P35227	p.Leu225Phe	rs1322585642	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536372G>A	TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Cys	rs779314891	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536365T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Phe	rs779314891	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536365T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228Gly	rs370844202	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536363G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228His	rs201691898	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536362C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg228Cys	rs370844202	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536363G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln230Ter	rs1380321881	stop gained	-	CHR_HSCHR17_7_CTG4:g.38536357G>A	gnomAD
PCGF2	P35227	p.Pro231Ser	rs1452114686	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536354G>A	gnomAD
PCGF2	P35227	p.Ala232Gly	rs749903360	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536350G>C	ExAC,gnomAD
PCGF2	P35227	p.Cys233Tyr	rs756899659	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536347C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Leu	rs535420083	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536341C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Trp	rs200143494	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536342G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Gln	rs535420083	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536341C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu236Phe	rs189346950	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536339G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr237Ile	rs925022214	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536335G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu238Gln	rs368317834	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536332A>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala239Thr	rs540892196	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536330C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Thr240Met	rs759490790	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536326G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val241Met	rs372019431	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536324C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro242Leu	rs748390616	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536320G>A	ExAC,gnomAD
PCGF2	P35227	p.Pro242Ser	rs772093442	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536321G>A	ExAC
PCGF2	P35227	p.Thr243Ser	rs1401012738	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536318T>A	gnomAD
PCGF2	P35227	p.Thr243Ile	rs1172849279	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536317G>A	gnomAD
PCGF2	P35227	p.Pro244Leu	rs1379690664	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536314G>A	gnomAD
PCGF2	P35227	p.Pro244Ser	rs1478818214	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536315G>A	gnomAD
PCGF2	P35227	p.Glu246Gln	rs991646402	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536309C>G	TOPMed,gnomAD
PCGF2	P35227	p.Glu246Lys	rs991646402	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536309C>T	TOPMed,gnomAD
PCGF2	P35227	p.Glu246Val	rs769007309	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536308T>A	ExAC
PCGF2	P35227	p.Thr248Asn	rs1489930211	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536302G>T	gnomAD
PCGF2	P35227	p.Ser251Asn	rs1218889139	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536293C>T	gnomAD
PCGF2	P35227	p.Gly252Trp	rs114574378	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536291C>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly252Arg	rs114574378	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536291C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala253Thr	rs1201204610	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536288C>T	gnomAD
PCGF2	P35227	p.Ala253Val	rs1347439391	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536287G>A	gnomAD
PCGF2	P35227	p.Glu255Lys	rs780727729	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536282C>T	ExAC,gnomAD
PCGF2	P35227	p.Cys256Tyr	rs1280061078	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536278C>T	gnomAD
PCGF2	P35227	p.Glu257Val	rs1368701098	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536275T>A	TOPMed
PCGF2	P35227	p.Ser260Gly	rs1445142388	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536267T>C	gnomAD
PCGF2	P35227	p.Asp261Asn	rs751218338	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536264C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro266Ser	rs1168961421	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536249G>A	gnomAD
PCGF2	P35227	p.Thr268Ile	rs1228477563	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536242G>A	TOPMed
PCGF2	P35227	p.Pro270Leu	rs1196536292	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536236G>A	gnomAD
PCGF2	P35227	p.Ala271Thr	rs1319854450	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536234C>T	TOPMed
PCGF2	P35227	p.Leu276Val	rs752439412	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536219G>C	ExAC,gnomAD
PCGF2	P35227	p.Ser278Thr	rs1265832095	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536212C>G	TOPMed
PCGF2	P35227	p.Ser278Arg	rs1256466420	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536211G>T	gnomAD
PCGF2	P35227	p.Ser278Cys	rs1293516092	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536213T>A	gnomAD
PCGF2	P35227	p.Ala280Val	rs765047753	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536206G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr281Pro	rs759495717	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536204T>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr281Asn	rs1246419795	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536203G>T	TOPMed
PCGF2	P35227	p.Pro287Ala	rs953468425	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536186G>C	TOPMed,gnomAD
PCGF2	P35227	p.Pro287Leu	rs767632359	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536185G>A	ExAC,gnomAD
PCGF2	P35227	p.Ser288Asn	rs761734103	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536182C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser288Thr	rs761734103	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536182C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser289Phe	rs1173316640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536179G>A	TOPMed,gnomAD
PCGF2	P35227	p.His290Gln	rs774589549	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536175A>T	ExAC,gnomAD
PCGF2	P35227	p.Pro292Ser	rs1413723500	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536171G>A	gnomAD
PCGF2	P35227	p.Thr295Asn	rs768954307	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536161G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr295Ser	rs1163898126	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536162T>A	gnomAD
PCGF2	P35227	p.His296Tyr	rs1236556702	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536159G>A	gnomAD
PCGF2	P35227	p.His296Gln	rs763301851	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536157G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro297Thr	rs1003229373	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536156G>T	TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ser	rs775970031	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536153T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ala	rs775970031	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536153T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser299Cys	rs1376280131	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536149G>C	TOPMed
PCGF2	P35227	p.Pro300Ala	rs1219123976	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536147G>C	gnomAD
PCGF2	P35227	p.Pro300Leu	rs1450948881	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536146G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr301Pro	rs1269726642	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536144T>G	TOPMed
PCGF2	P35227	p.Pro303Ser	rs746369251	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536138G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro303Ala	rs746369251	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536138G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro303Leu	rs1350932686	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536137G>A	TOPMed,gnomAD
PCGF2	P35227	p.Ser304Leu	rs1307931350	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536134G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr305Pro	rs1188153848	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536132T>G	TOPMed
PCGF2	P35227	p.Thr305Ala	rs1188153848	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536132T>C	TOPMed
PCGF2	P35227	p.Ser307Arg	rs1434836110	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536124A>C	gnomAD
PCGF2	P35227	p.Ser307Gly	rs781613328	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536126T>C	ExAC,gnomAD
PCGF2	P35227	p.Gly308Glu	rs1324828600	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536122C>T	gnomAD
PCGF2	P35227	p.Gly308Arg	rs1349805834	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536123C>T	gnomAD
PCGF2	P35227	p.Thr310Ala	rs1378510208	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536117T>C	gnomAD
PCGF2	P35227	p.Thr311Arg	rs1440488481	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536113G>C	gnomAD
PCGF2	P35227	p.Thr311Ile	rs1440488481	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536113G>A	gnomAD
PCGF2	P35227	p.Ala312Asp	rs1189241824	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536110G>T	gnomAD
PCGF2	P35227	p.Ala313Asp	rs143182107	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536107G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala313Val	rs143182107	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536107G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly315Glu	rs1049689204	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>T	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Arg	rs746445618	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536102C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly315Ala	rs1049689204	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>G	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Val	rs1049689204	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>A	TOPMed,gnomAD
PCGF2	P35227	p.Gly316Ser	rs372971271	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536099C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser317Cys	rs1298823443	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536096T>A	gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536091C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536091C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser325Phe	rs1303419555	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536071G>A	TOPMed
PCGF2	P35227	p.Ser326Pro	rs1367282284	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536069A>G	gnomAD
PCGF2	P35227	p.Ser326Phe	rs1275843223	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536068G>A	gnomAD
PCGF2	P35227	p.Arg331His	rs778666838	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536053C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Lys332Glu	rs1297640476	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536051T>C	gnomAD
PCGF2	P35227	p.Val335Ala	rs1174278285	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536041A>G	gnomAD
PCGF2	P35227	p.Val335Ile	rs1310575120	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536042C>T	TOPMed
PCGF2	P35227	p.Gly337Ser	rs1201324546	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536036C>T	gnomAD
PCGF2	P35227	p.Ala338Thr	rs972720076	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536033C>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro339Leu	rs760680898	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536029G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Leu	rs764305411	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536027C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Met	rs764305411	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536027C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro341Thr	rs1208938665	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536024G>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro341Ser	rs1208938665	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536024G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro342Arg	rs770193210	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Thr	rs775916672	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536021G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Leu	rs770193210	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Ala	rs775916672	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536021G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342His	rs770193210	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ter345Unk	rs1400663223	stop lost	-	CHR_HSCHR17_7_CTG4:g.38536011del	gnomAD
PCGF2	P35227	p.His2Pro	rs1164566149	missense variant	-	NC_000017.11:g.38740398T>G	TOPMed,gnomAD
PCGF2	P35227	p.Arg3Leu	rs774706646	missense variant	-	NC_000017.11:g.38740395C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg3Gln	rs774706646	missense variant	-	NC_000017.11:g.38740395C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg6Gly	rs749819496	missense variant	-	NC_000017.11:g.38740387G>C	ExAC,gnomAD
PCGF2	P35227	p.Arg6Gln	rs779496705	missense variant	-	NC_000017.11:g.38740386C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg6Trp	rs749819496	missense variant	-	NC_000017.11:g.38740387G>A	ExAC,gnomAD
PCGF2	P35227	p.Ile9Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38740378T>G	NCI-TCGA
PCGF2	P35227	p.Thr10Arg	rs1251160108	missense variant	-	NC_000017.11:g.38740374G>C	gnomAD
PCGF2	P35227	p.Pro14Thr	rs780765988	missense variant	-	NC_000017.11:g.38740363G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Phe	rs757069949	missense variant	-	NC_000017.11:g.38740357G>A	ExAC,gnomAD
PCGF2	P35227	p.Leu16Ile	rs757069949	missense variant	-	NC_000017.11:g.38740357G>T	ExAC,gnomAD
PCGF2	P35227	p.Met17Ile	rs751245494	missense variant	-	NC_000017.11:g.38740352C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala19Pro	rs777722903	missense variant	-	NC_000017.11:g.38740348C>G	ExAC,gnomAD
PCGF2	P35227	p.Leu20Ile	rs1335630874	missense variant	-	NC_000017.11:g.38740345G>T	gnomAD
PCGF2	P35227	p.Gly22Trp	rs752723799	missense variant	-	NC_000017.11:g.38740339C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly22Arg	rs752723799	missense variant	-	NC_000017.11:g.38740339C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly22Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38740338C>T	NCI-TCGA
PCGF2	P35227	p.Gly23Glu	rs1388718872	missense variant	-	NC_000017.11:g.38740335C>T	gnomAD
PCGF2	P35227	p.Tyr24ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38740334C>-	NCI-TCGA
PCGF2	P35227	p.Tyr24ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38740333_38740334insC	NCI-TCGA
PCGF2	P35227	p.Asp27Asn	rs1420332509	missense variant	-	NC_000017.11:g.38740324C>T	gnomAD
PCGF2	P35227	p.Ala28Thr	rs968126661	missense variant	-	NC_000017.11:g.38740321C>T	gnomAD
PCGF2	P35227	p.Thr29Ile	rs767571747	missense variant	-	NC_000017.11:g.38740317G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ile31Met	rs774651597	missense variant	-	NC_000017.11:g.38740310G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val32Met	rs140843241	missense variant	-	NC_000017.11:g.38740309C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe38Leu	rs1352006959	missense variant	-	NC_000017.11:g.38740291A>G	TOPMed
PCGF2	P35227	p.Thr41Ala	rs770516158	missense variant	-	NC_000017.11:g.38739674T>C	ExAC,gnomAD
PCGF2	P35227	p.Val44Met	rs1412561472	missense variant	-	NC_000017.11:g.38739665C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg45Cys	rs147291159	missense variant	-	NC_000017.11:g.38739662G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg45His	rs145569563	missense variant	-	NC_000017.11:g.38739661C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu48Asp	rs778786385	missense variant	-	NC_000017.11:g.38739651C>A	ExAC,gnomAD
PCGF2	P35227	p.Asn50Lys	rs750977866	missense variant	-	NC_000017.11:g.38739645G>C	gnomAD
PCGF2	P35227	p.Asn50Ser	rs369222947	missense variant	-	NC_000017.11:g.38739646T>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Tyr52His	rs749282221	missense variant	-	NC_000017.11:g.38739641A>G	ExAC,gnomAD
PCGF2	P35227	p.Asp57Glu	rs781097488	missense variant	-	NC_000017.11:g.38739624G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Met	rs376422988	missense variant	-	NC_000017.11:g.38739623C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Glu	rs764363872	missense variant	-	NC_000017.11:g.38739622A>T	ExAC,gnomAD
PCGF2	P35227	p.Val58Gly	rs764363872	missense variant	-	NC_000017.11:g.38739622A>C	ExAC,gnomAD
PCGF2	P35227	p.Gln59Pro	rs758623811	missense variant	-	NC_000017.11:g.38739619T>G	ExAC,gnomAD
PCGF2	P35227	p.Thr63Ile	rs753001499	missense variant	-	NC_000017.11:g.38739607G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Gln	rs1270907226	missense variant	-	NC_000017.11:g.38739604C>T	gnomAD
PCGF2	P35227	p.Arg64Trp	rs765654378	missense variant	-	NC_000017.11:g.38739605G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro65Leu	RCV000766184	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Ser	RCV000766185	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739602G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	RCV000758165	missense variant	-	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	VAR_082085	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Pro65Ser	VAR_082086	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Leu66Gln	rs1407101094	missense variant	-	NC_000017.11:g.38739598A>T	TOPMed
PCGF2	P35227	p.Ser68Asn	rs765795827	missense variant	-	NC_000017.11:g.38739592C>T	ExAC,gnomAD
PCGF2	P35227	p.Ile69Val	rs760327885	missense variant	-	NC_000017.11:g.38739590T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser71Phe	rs1461367779	missense variant	-	NC_000017.11:g.38739251G>A	TOPMed
PCGF2	P35227	p.Lys73Glu	rs371103302	missense variant	-	NC_000017.11:g.38739246T>C	ESP,TOPMed
PCGF2	P35227	p.Lys73Arg	rs754174211	missense variant	-	NC_000017.11:g.38739245T>C	ExAC,gnomAD
PCGF2	P35227	p.Gln76HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38739231_38739235TGTCT>-	NCI-TCGA
PCGF2	P35227	p.Leu82Phe	rs780591825	missense variant	-	NC_000017.11:g.38739217C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp89Asn	rs756653107	missense variant	-	NC_000017.11:g.38739198C>T	ExAC,gnomAD
PCGF2	P35227	p.Met91Val	rs1195772306	missense variant	-	NC_000017.11:g.38739113T>C	TOPMed,gnomAD
PCGF2	P35227	p.Arg93Leu	rs1259877550	missense variant	-	NC_000017.11:g.38739106C>A	gnomAD
PCGF2	P35227	p.Arg93Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38739106C>T	NCI-TCGA
PCGF2	P35227	p.Arg93Trp	rs768877758	missense variant	-	NC_000017.11:g.38739107G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg94Gln	rs780536842	missense variant	-	NC_000017.11:g.38739103C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg94Trp	rs749508532	missense variant	-	NC_000017.11:g.38739104G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg95Trp	rs200480241	missense variant	-	NC_000017.11:g.38739101G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg95Gln	rs746360625	missense variant	-	NC_000017.11:g.38739100C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe97Leu	rs757705562	missense variant	-	NC_000017.11:g.38739093G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe97Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38739093G>T	NCI-TCGA
PCGF2	P35227	p.Ala99Gly	rs1412330889	missense variant	-	NC_000017.11:g.38739088G>C	TOPMed
PCGF2	P35227	p.Ala100Val	rs763533799	missense variant	-	NC_000017.11:g.38739085G>A	ExAC,gnomAD
PCGF2	P35227	p.Tyr101Cys	rs1011253528	missense variant	-	NC_000017.11:g.38739082T>C	TOPMed
PCGF2	P35227	p.Pro102Ser	rs764992830	missense variant	-	NC_000017.11:g.38739080G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr104Met	rs759394608	missense variant	-	NC_000017.11:g.38739073G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro107Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38738858G>A	NCI-TCGA
PCGF2	P35227	p.Gly109Ser	rs777012498	missense variant	-	NC_000017.11:g.38738853C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Arg	rs777012498	missense variant	-	NC_000017.11:g.38738853C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Val	rs771238828	missense variant	-	NC_000017.11:g.38738852C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Asp	rs771238828	missense variant	-	NC_000017.11:g.38738852C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser110Tyr	rs1163873738	missense variant	-	NC_000017.11:g.38738849G>T	gnomAD
PCGF2	P35227	p.Ser110GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38738843_38738850TCATTGGA>-	NCI-TCGA
PCGF2	P35227	p.Asn111Lys	rs1320317505	missense variant	-	NC_000017.11:g.38738845A>T	TOPMed
PCGF2	P35227	p.Asn111Ile	rs201412419	missense variant	-	NC_000017.11:g.38738846T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn111Ser	rs201412419	missense variant	-	NC_000017.11:g.38738846T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp113Glu	rs1370117279	missense variant	-	NC_000017.11:g.38738839G>T	gnomAD
PCGF2	P35227	p.Asp113Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38738840T>C	NCI-TCGA
PCGF2	P35227	p.Arg114His	rs554363495	missense variant	-	NC_000017.11:g.38738837C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg114Cys	rs778201270	missense variant	-	NC_000017.11:g.38738838G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg114Leu	rs554363495	missense variant	-	NC_000017.11:g.38738837C>A	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Gly115Ser	rs778419447	missense variant	-	NC_000017.11:g.38738835C>T	ExAC,gnomAD
PCGF2	P35227	p.Gly115Asp	rs754586944	missense variant	-	NC_000017.11:g.38738834C>T	ExAC,gnomAD
PCGF2	P35227	p.Glu116Lys	rs779878626	missense variant	-	NC_000017.11:g.38738832C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln120Glu	rs958236122	missense variant	-	NC_000017.11:g.38738820G>C	TOPMed,gnomAD
PCGF2	P35227	p.Lys122Asn	rs1369036219	missense variant	-	NC_000017.11:g.38738812C>G	gnomAD
PCGF2	P35227	p.Ala124Thr	rs1034297638	missense variant	-	NC_000017.11:g.38738808C>T	TOPMed,gnomAD
PCGF2	P35227	p.Ala124Val	rs1411468690	missense variant	-	NC_000017.11:g.38738807G>A	TOPMed
PCGF2	P35227	p.Ser126Asn	rs377546846	missense variant	-	NC_000017.11:g.38738801C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp127Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38738799C>T	NCI-TCGA
PCGF2	P35227	p.Asp128Glu	rs761851035	missense variant	-	NC_000017.11:g.38738794A>T	ExAC,gnomAD
PCGF2	P35227	p.Glu129Val	rs752773081	missense variant	-	NC_000017.11:g.38738792T>A	ExAC,gnomAD
PCGF2	P35227	p.Ile130Thr	rs765435276	missense variant	-	NC_000017.11:g.38738789A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu136Lys	rs373487471	missense variant	-	NC_000017.11:g.38738772C>T	1000Genomes,ESP,ExAC,gnomAD
PCGF2	P35227	p.Glu136Gly	rs1296507529	missense variant	-	NC_000017.11:g.38738771T>C	TOPMed
PCGF2	P35227	p.Glu136Asp	rs1251984310	missense variant	-	NC_000017.11:g.38738770T>G	gnomAD
PCGF2	P35227	p.Glu139Lys	rs201164684	missense variant	-	NC_000017.11:g.38738763C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly140Asp	rs1351561671	missense variant	-	NC_000017.11:g.38738759C>T	gnomAD
PCGF2	P35227	p.Ala141Thr	rs772521169	missense variant	-	NC_000017.11:g.38738757C>T	ExAC
PCGF2	P35227	p.Arg142Ser	rs1311059696	missense variant	-	NC_000017.11:g.38738595C>A	TOPMed
PCGF2	P35227	p.Asp143Val	rs1347323535	missense variant	-	NC_000017.11:g.38738593T>A	gnomAD
PCGF2	P35227	p.Arg144Trp	rs199504647	missense variant	-	NC_000017.11:g.38738591G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gln	rs773410790	missense variant	-	NC_000017.11:g.38738590C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Leu	rs773410790	missense variant	-	NC_000017.11:g.38738590C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gly	rs199504647	missense variant	-	NC_000017.11:g.38738591G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp145His	rs1443579650	missense variant	-	NC_000017.11:g.38738588C>G	TOPMed
PCGF2	P35227	p.Glu146Lys	rs1412816395	missense variant	-	NC_000017.11:g.38738585C>T	gnomAD
PCGF2	P35227	p.Glu146Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38738585C>G	NCI-TCGA
PCGF2	P35227	p.Lys147Asn	rs774898974	missense variant	-	NC_000017.11:g.38738580C>G	ExAC,gnomAD
PCGF2	P35227	p.Lys147Thr	rs1374779710	missense variant	-	NC_000017.11:g.38738581T>G	gnomAD
PCGF2	P35227	p.Lys147Gln	rs1237441991	missense variant	-	NC_000017.11:g.38738582T>G	TOPMed
PCGF2	P35227	p.Gly149Arg	rs1416945236	missense variant	-	NC_000017.11:g.38738576C>G	gnomAD
PCGF2	P35227	p.Pro150Ser	rs1167009859	missense variant	-	NC_000017.11:g.38738573G>A	gnomAD
PCGF2	P35227	p.Leu151Pro	rs748683854	missense variant	-	NC_000017.11:g.38738569A>G	ExAC,gnomAD
PCGF2	P35227	p.Leu151TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38738570G>-	NCI-TCGA
PCGF2	P35227	p.Glu152Lys	rs775075296	missense variant	-	NC_000017.11:g.38738567C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp157Glu	rs142427824	missense variant	-	NC_000017.11:g.38738550G>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly162Arg	rs745485150	missense variant	-	NC_000017.11:g.38738445C>G	ExAC,gnomAD
PCGF2	P35227	p.Val163Met	rs776481995	missense variant	-	NC_000017.11:g.38738442C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg164Cys	rs1378038012	missense variant	-	NC_000017.11:g.38738439G>A	TOPMed
PCGF2	P35227	p.Arg164His	rs1027436811	missense variant	-	NC_000017.11:g.38738438C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg167Ter	rs368479811	stop gained	-	NC_000017.11:g.38738430G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg167Gln	rs746734324	missense variant	-	NC_000017.11:g.38738429C>T	ExAC,gnomAD
PCGF2	P35227	p.Ala170Pro	rs777733534	missense variant	-	NC_000017.11:g.38738421C>G	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	NC_000017.11:g.38738413C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	NC_000017.11:g.38738413C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Val	rs758229006	missense variant	-	NC_000017.11:g.38738415T>C	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	NC_000017.11:g.38738413C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val174Ile	rs756277723	missense variant	-	NC_000017.11:g.38738409C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His176Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38738403G>A	NCI-TCGA
PCGF2	P35227	p.His176Leu	rs750641343	missense variant	-	NC_000017.11:g.38738402T>A	ExAC,gnomAD
PCGF2	P35227	p.His176Arg	rs750641343	missense variant	-	NC_000017.11:g.38738402T>C	ExAC,gnomAD
PCGF2	P35227	p.Ala178Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38738396G>C	NCI-TCGA
PCGF2	P35227	p.Lys179Thr	rs757487665	missense variant	-	NC_000017.11:g.38738393T>G	ExAC,gnomAD
PCGF2	P35227	p.Leu181Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38738388G>A	NCI-TCGA
PCGF2	P35227	p.Arg182Cys	rs560971855	missense variant	-	NC_000017.11:g.38738385G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg182His	rs764470222	missense variant	-	NC_000017.11:g.38738384C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp186Glu	rs145409234	missense variant	-	NC_000017.11:g.38738371A>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu194Lys	rs1465655394	missense variant	-	NC_000017.11:g.38736167C>T	gnomAD
PCGF2	P35227	p.Val195Ile	rs773058381	missense variant	-	NC_000017.11:g.38736164C>T	ExAC,gnomAD
PCGF2	P35227	p.Val195Phe	rs773058381	missense variant	-	NC_000017.11:g.38736164C>A	ExAC,gnomAD
PCGF2	P35227	p.Glu198Gly	rs774034080	missense variant	-	NC_000017.11:g.38736154T>C	ExAC,gnomAD
PCGF2	P35227	p.Glu198Lys	rs568535028	missense variant	-	NC_000017.11:g.38736155C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu198Asp	rs768593615	missense variant	-	NC_000017.11:g.38736153C>G	ExAC,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	NC_000017.11:g.38736150G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	NC_000017.11:g.38736150G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Gly	rs749250708	missense variant	-	NC_000017.11:g.38736151T>C	ExAC,gnomAD
PCGF2	P35227	p.Glu200Lys	rs747215640	missense variant	-	NC_000017.11:g.38736149C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ala	rs1201949138	missense variant	-	NC_000017.11:g.38736146G>C	TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ser	rs1201949138	missense variant	-	NC_000017.11:g.38736146G>A	TOPMed,gnomAD
PCGF2	P35227	p.Lys203Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38736138C>A	NCI-TCGA
PCGF2	P35227	p.Glu204Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38736137C>T	NCI-TCGA
PCGF2	P35227	p.Thr207Ala	rs1260959083	missense variant	-	NC_000017.11:g.38736128T>C	TOPMed
PCGF2	P35227	p.Met209Val	rs1292047416	missense variant	-	NC_000017.11:g.38736122T>C	TOPMed,gnomAD
PCGF2	P35227	p.Ile211Val	rs1238145871	missense variant	-	NC_000017.11:g.38736116T>C	TOPMed
PCGF2	P35227	p.Ala212Thr	rs1304683105	missense variant	-	NC_000017.11:g.38736113C>T	gnomAD
PCGF2	P35227	p.Ala212Val	rs1446850294	missense variant	-	NC_000017.11:g.38736112G>A	TOPMed,gnomAD
PCGF2	P35227	p.Tyr213Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38736110A>T	NCI-TCGA
PCGF2	P35227	p.Ile214Val	rs1460622087	missense variant	-	NC_000017.11:g.38736107T>C	gnomAD
PCGF2	P35227	p.Tyr215Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38736103T>A	NCI-TCGA
PCGF2	P35227	p.Tyr215ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38736105G>-	NCI-TCGA
PCGF2	P35227	p.Trp217Ter	rs1171109186	stop gained	-	NC_000017.11:g.38736096C>T	gnomAD
PCGF2	P35227	p.Trp217MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38736098_38736099insT	NCI-TCGA
PCGF2	P35227	p.Arg218Trp	rs753047733	missense variant	-	NC_000017.11:g.38736095G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg218Gln	rs774439646	missense variant	-	NC_000017.11:g.38736094C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg219Trp	rs1186813888	missense variant	-	NC_000017.11:g.38736092G>A	gnomAD
PCGF2	P35227	p.Arg219Leu	rs755511901	missense variant	-	NC_000017.11:g.38736091C>A	ExAC,gnomAD
PCGF2	P35227	p.Arg219Gln	rs755511901	missense variant	-	NC_000017.11:g.38736091C>T	ExAC,gnomAD
PCGF2	P35227	p.Asn220Tyr	rs202151124	missense variant	-	NC_000017.11:g.38735600T>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn220Ser	rs773177453	missense variant	-	NC_000017.11:g.38735599T>C	ExAC,gnomAD
PCGF2	P35227	p.Gly221Arg	rs748359148	missense variant	-	NC_000017.11:g.38735597C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro224Leu	rs1242535395	missense variant	-	NC_000017.11:g.38735587G>A	gnomAD
PCGF2	P35227	p.Leu225Phe	rs1322585642	missense variant	-	NC_000017.11:g.38735585G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu225SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38735585G>-	NCI-TCGA
PCGF2	P35227	p.Leu225Ile	rs1322585642	missense variant	-	NC_000017.11:g.38735585G>T	TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Phe	rs779314891	missense variant	-	NC_000017.11:g.38735578T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Cys	rs779314891	missense variant	-	NC_000017.11:g.38735578T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228Cys	rs370844202	missense variant	-	NC_000017.11:g.38735576G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228His	rs201691898	missense variant	-	NC_000017.11:g.38735575C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg228Gly	rs370844202	missense variant	-	NC_000017.11:g.38735576G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln230Ter	rs1380321881	stop gained	-	NC_000017.11:g.38735570G>A	gnomAD
PCGF2	P35227	p.Pro231Ser	rs1452114686	missense variant	-	NC_000017.11:g.38735567G>A	gnomAD
PCGF2	P35227	p.Ala232Gly	rs749903360	missense variant	-	NC_000017.11:g.38735563G>C	ExAC,gnomAD
PCGF2	P35227	p.Cys233Tyr	rs756899659	missense variant	-	NC_000017.11:g.38735560C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Gln	rs535420083	missense variant	-	NC_000017.11:g.38735554C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Leu	rs535420083	missense variant	-	NC_000017.11:g.38735554C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Trp	rs200143494	missense variant	-	NC_000017.11:g.38735555G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu236Phe	rs189346950	missense variant	-	NC_000017.11:g.38735552G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr237Ile	rs925022214	missense variant	-	NC_000017.11:g.38735548G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu238Gln	rs368317834	missense variant	-	NC_000017.11:g.38735545A>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala239Thr	rs540892196	missense variant	-	NC_000017.11:g.38735543C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Thr240Met	rs759490790	missense variant	-	NC_000017.11:g.38735539G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val241Met	rs372019431	missense variant	-	NC_000017.11:g.38735537C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro242Leu	rs748390616	missense variant	-	NC_000017.11:g.38735533G>A	ExAC,gnomAD
PCGF2	P35227	p.Pro242Ser	rs772093442	missense variant	-	NC_000017.11:g.38735534G>A	ExAC
PCGF2	P35227	p.Thr243Ile	rs1172849279	missense variant	-	NC_000017.11:g.38735530G>A	gnomAD
PCGF2	P35227	p.Thr243Ser	rs1401012738	missense variant	-	NC_000017.11:g.38735531T>A	gnomAD
PCGF2	P35227	p.Pro244Leu	rs1379690664	missense variant	-	NC_000017.11:g.38735527G>A	gnomAD
PCGF2	P35227	p.Pro244Ser	rs1478818214	missense variant	-	NC_000017.11:g.38735528G>A	gnomAD
PCGF2	P35227	p.Glu246Lys	rs991646402	missense variant	-	NC_000017.11:g.38735522C>T	TOPMed,gnomAD
PCGF2	P35227	p.Glu246Val	rs769007309	missense variant	-	NC_000017.11:g.38735521T>A	ExAC
PCGF2	P35227	p.Glu246Gln	rs991646402	missense variant	-	NC_000017.11:g.38735522C>G	TOPMed,gnomAD
PCGF2	P35227	p.Thr248Asn	rs1489930211	missense variant	-	NC_000017.11:g.38735515G>T	gnomAD
PCGF2	P35227	p.Ser251Asn	rs1218889139	missense variant	-	NC_000017.11:g.38735506C>T	gnomAD
PCGF2	P35227	p.Gly252Arg	rs114574378	missense variant	-	NC_000017.11:g.38735504C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly252Trp	rs114574378	missense variant	-	NC_000017.11:g.38735504C>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala253Thr	rs1201204610	missense variant	-	NC_000017.11:g.38735501C>T	gnomAD
PCGF2	P35227	p.Ala253Val	rs1347439391	missense variant	-	NC_000017.11:g.38735500G>A	gnomAD
PCGF2	P35227	p.Glu255Lys	rs780727729	missense variant	-	NC_000017.11:g.38735495C>T	ExAC,gnomAD
PCGF2	P35227	p.Cys256Tyr	rs1280061078	missense variant	-	NC_000017.11:g.38735491C>T	gnomAD
PCGF2	P35227	p.Glu257Val	rs1368701098	missense variant	-	NC_000017.11:g.38735488T>A	TOPMed
PCGF2	P35227	p.Glu257Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38735488T>C	NCI-TCGA
PCGF2	P35227	p.Val259LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38735463_38735484GCTGGGAGCCTTGTCGCTGACT>-	NCI-TCGA
PCGF2	P35227	p.Ser260Gly	rs1445142388	missense variant	-	NC_000017.11:g.38735480T>C	gnomAD
PCGF2	P35227	p.Asp261Asn	rs751218338	missense variant	-	NC_000017.11:g.38735477C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro264Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38735468G>A	NCI-TCGA
PCGF2	P35227	p.Pro266Ser	rs1168961421	missense variant	-	NC_000017.11:g.38735462G>A	gnomAD
PCGF2	P35227	p.Thr268Ile	rs1228477563	missense variant	-	NC_000017.11:g.38735455G>A	TOPMed
PCGF2	P35227	p.Pro270Leu	rs1196536292	missense variant	-	NC_000017.11:g.38735449G>A	gnomAD
PCGF2	P35227	p.Ala271Thr	rs1319854450	missense variant	-	NC_000017.11:g.38735447C>T	TOPMed
PCGF2	P35227	p.Ala271Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38735447C>G	NCI-TCGA
PCGF2	P35227	p.Ala271Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38735446G>A	NCI-TCGA
PCGF2	P35227	p.Leu276Val	rs752439412	missense variant	-	NC_000017.11:g.38735432G>C	ExAC,gnomAD
PCGF2	P35227	p.Ser278Arg	rs1256466420	missense variant	-	NC_000017.11:g.38735424G>T	gnomAD
PCGF2	P35227	p.Ser278Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38735425C>T	NCI-TCGA
PCGF2	P35227	p.Ser278Cys	rs1293516092	missense variant	-	NC_000017.11:g.38735426T>A	gnomAD
PCGF2	P35227	p.Ser278Thr	rs1265832095	missense variant	-	NC_000017.11:g.38735425C>G	TOPMed
PCGF2	P35227	p.Pro279HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38735418_38735422GGCTG>-	NCI-TCGA
PCGF2	P35227	p.Ala280Val	rs765047753	missense variant	-	NC_000017.11:g.38735419G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr281Asn	rs1246419795	missense variant	-	NC_000017.11:g.38735416G>T	TOPMed
PCGF2	P35227	p.Thr281Pro	rs759495717	missense variant	-	NC_000017.11:g.38735417T>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser286Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38735401G>T	NCI-TCGA
PCGF2	P35227	p.Pro287Ala	rs953468425	missense variant	-	NC_000017.11:g.38735399G>C	TOPMed,gnomAD
PCGF2	P35227	p.Pro287Leu	rs767632359	missense variant	-	NC_000017.11:g.38735398G>A	ExAC,gnomAD
PCGF2	P35227	p.Ser288Thr	rs761734103	missense variant	-	NC_000017.11:g.38735395C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser288Asn	rs761734103	missense variant	-	NC_000017.11:g.38735395C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser289Phe	rs1173316640	missense variant	-	NC_000017.11:g.38735392G>A	TOPMed,gnomAD
PCGF2	P35227	p.His290Gln	rs774589549	missense variant	-	NC_000017.11:g.38735388A>T	ExAC,gnomAD
PCGF2	P35227	p.Gly291Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38735387C>T	NCI-TCGA
PCGF2	P35227	p.Pro292Ser	rs1413723500	missense variant	-	NC_000017.11:g.38735384G>A	gnomAD
PCGF2	P35227	p.Thr295Ser	rs1163898126	missense variant	-	NC_000017.11:g.38735375T>A	gnomAD
PCGF2	P35227	p.Thr295Asn	rs768954307	missense variant	-	NC_000017.11:g.38735374G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His296Tyr	rs1236556702	missense variant	-	NC_000017.11:g.38735372G>A	gnomAD
PCGF2	P35227	p.His296Gln	rs763301851	missense variant	-	NC_000017.11:g.38735370G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro297Thr	rs1003229373	missense variant	-	NC_000017.11:g.38735369G>T	TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ala	rs775970031	missense variant	-	NC_000017.11:g.38735366T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ser	rs775970031	missense variant	-	NC_000017.11:g.38735366T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser299Cys	rs1376280131	missense variant	-	NC_000017.11:g.38735362G>C	TOPMed
PCGF2	P35227	p.Pro300Ala	rs1219123976	missense variant	-	NC_000017.11:g.38735360G>C	gnomAD
PCGF2	P35227	p.Pro300Leu	rs1450948881	missense variant	-	NC_000017.11:g.38735359G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr301Pro	rs1269726642	missense variant	-	NC_000017.11:g.38735357T>G	TOPMed
PCGF2	P35227	p.Pro303Ala	rs746369251	missense variant	-	NC_000017.11:g.38735351G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro303Leu	rs1350932686	missense variant	-	NC_000017.11:g.38735350G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro303Ser	rs746369251	missense variant	-	NC_000017.11:g.38735351G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser304Leu	rs1307931350	missense variant	-	NC_000017.11:g.38735347G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr305Ala	rs1188153848	missense variant	-	NC_000017.11:g.38735345T>C	TOPMed
PCGF2	P35227	p.Thr305Pro	rs1188153848	missense variant	-	NC_000017.11:g.38735345T>G	TOPMed
PCGF2	P35227	p.Ser307Gly	rs781613328	missense variant	-	NC_000017.11:g.38735339T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser307Arg	rs1434836110	missense variant	-	NC_000017.11:g.38735337A>C	gnomAD
PCGF2	P35227	p.Gly308Arg	rs1349805834	missense variant	-	NC_000017.11:g.38735336C>T	gnomAD
PCGF2	P35227	p.Gly308Glu	rs1324828600	missense variant	-	NC_000017.11:g.38735335C>T	gnomAD
PCGF2	P35227	p.Thr310Ala	rs1378510208	missense variant	-	NC_000017.11:g.38735330T>C	gnomAD
PCGF2	P35227	p.Thr311Arg	rs1440488481	missense variant	-	NC_000017.11:g.38735326G>C	gnomAD
PCGF2	P35227	p.Thr311Ile	rs1440488481	missense variant	-	NC_000017.11:g.38735326G>A	gnomAD
PCGF2	P35227	p.Ala312Asp	rs1189241824	missense variant	-	NC_000017.11:g.38735323G>T	gnomAD
PCGF2	P35227	p.Ala313Val	rs143182107	missense variant	-	NC_000017.11:g.38735320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala313Asp	rs143182107	missense variant	-	NC_000017.11:g.38735320G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly315Ala	rs1049689204	missense variant	-	NC_000017.11:g.38735314C>G	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Glu	rs1049689204	missense variant	-	NC_000017.11:g.38735314C>T	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Val	rs1049689204	missense variant	-	NC_000017.11:g.38735314C>A	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Arg	rs746445618	missense variant	-	NC_000017.11:g.38735315C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly316Ser	rs372971271	missense variant	-	NC_000017.11:g.38735312C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser317Cys	rs1298823443	missense variant	-	NC_000017.11:g.38735309T>A	gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	NC_000017.11:g.38735304C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	NC_000017.11:g.38735304C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser325Phe	rs1303419555	missense variant	-	NC_000017.11:g.38735284G>A	TOPMed
PCGF2	P35227	p.Ser326Pro	rs1367282284	missense variant	-	NC_000017.11:g.38735282A>G	gnomAD
PCGF2	P35227	p.Ser326Phe	rs1275843223	missense variant	-	NC_000017.11:g.38735281G>A	gnomAD
PCGF2	P35227	p.Arg331His	rs778666838	missense variant	-	NC_000017.11:g.38735266C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Lys332Glu	rs1297640476	missense variant	-	NC_000017.11:g.38735264T>C	gnomAD
PCGF2	P35227	p.Lys332Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.38735262C>A	NCI-TCGA
PCGF2	P35227	p.Val335Ala	rs1174278285	missense variant	-	NC_000017.11:g.38735254A>G	gnomAD
PCGF2	P35227	p.Val335Ile	rs1310575120	missense variant	-	NC_000017.11:g.38735255C>T	TOPMed
PCGF2	P35227	p.Gly337Ser	rs1201324546	missense variant	-	NC_000017.11:g.38735249C>T	gnomAD
PCGF2	P35227	p.Ala338Thr	rs972720076	missense variant	-	NC_000017.11:g.38735246C>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro339Leu	rs760680898	missense variant	-	NC_000017.11:g.38735242G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Met	rs764305411	missense variant	-	NC_000017.11:g.38735240C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Leu	rs764305411	missense variant	-	NC_000017.11:g.38735240C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro341Thr	rs1208938665	missense variant	-	NC_000017.11:g.38735237G>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro341Ser	rs1208938665	missense variant	-	NC_000017.11:g.38735237G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro342His	rs770193210	missense variant	-	NC_000017.11:g.38735233G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Leu	rs770193210	missense variant	-	NC_000017.11:g.38735233G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Thr	rs775916672	missense variant	-	NC_000017.11:g.38735234G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Ala	rs775916672	missense variant	-	NC_000017.11:g.38735234G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Arg	rs770193210	missense variant	-	NC_000017.11:g.38735233G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr344Arg	NCI-TCGA novel	frameshift	-	NC_000017.11:g.38735225_38735229AAGTT>-	NCI-TCGA
PCGF2	P35227	p.Ter345Unk	rs1400663223	stop lost	-	NC_000017.11:g.38735224del	gnomAD
PCGF2	P35227	p.His2Pro	rs1164566149	missense variant	-	NC_000017.11:g.38740398T>G	TOPMed,gnomAD
PCGF2	P35227	p.Arg3Leu	rs774706646	missense variant	-	NC_000017.11:g.38740395C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg3Gln	rs774706646	missense variant	-	NC_000017.11:g.38740395C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg6Gln	rs779496705	missense variant	-	NC_000017.11:g.38740386C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg6Gly	rs749819496	missense variant	-	NC_000017.11:g.38740387G>C	ExAC,gnomAD
PCGF2	P35227	p.Arg6Trp	rs749819496	missense variant	-	NC_000017.11:g.38740387G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr10Arg	rs1251160108	missense variant	-	NC_000017.11:g.38740374G>C	gnomAD
PCGF2	P35227	p.Pro14Thr	rs780765988	missense variant	-	NC_000017.11:g.38740363G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Ile	rs757069949	missense variant	-	NC_000017.11:g.38740357G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Phe	rs757069949	missense variant	-	NC_000017.11:g.38740357G>A	ExAC,gnomAD
PCGF2	P35227	p.Met17Ile	rs751245494	missense variant	-	NC_000017.11:g.38740352C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala19Pro	rs777722903	missense variant	-	NC_000017.11:g.38740348C>G	ExAC,gnomAD
PCGF2	P35227	p.Leu20Ile	rs1335630874	missense variant	-	NC_000017.11:g.38740345G>T	gnomAD
PCGF2	P35227	p.Gly22Arg	rs752723799	missense variant	-	NC_000017.11:g.38740339C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly22Trp	rs752723799	missense variant	-	NC_000017.11:g.38740339C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly23Glu	rs1388718872	missense variant	-	NC_000017.11:g.38740335C>T	gnomAD
PCGF2	P35227	p.Asp27Asn	rs1420332509	missense variant	-	NC_000017.11:g.38740324C>T	gnomAD
PCGF2	P35227	p.Ala28Thr	rs968126661	missense variant	-	NC_000017.11:g.38740321C>T	gnomAD
PCGF2	P35227	p.Thr29Ile	rs767571747	missense variant	-	NC_000017.11:g.38740317G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ile31Met	rs774651597	missense variant	-	NC_000017.11:g.38740310G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val32Met	rs140843241	missense variant	-	NC_000017.11:g.38740309C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe38Leu	rs1352006959	missense variant	-	NC_000017.11:g.38740291A>G	TOPMed
PCGF2	P35227	p.Thr41Ala	rs770516158	missense variant	-	NC_000017.11:g.38739674T>C	ExAC,gnomAD
PCGF2	P35227	p.Val44Met	rs1412561472	missense variant	-	NC_000017.11:g.38739665C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg45Cys	rs147291159	missense variant	-	NC_000017.11:g.38739662G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg45His	rs145569563	missense variant	-	NC_000017.11:g.38739661C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu48Asp	rs778786385	missense variant	-	NC_000017.11:g.38739651C>A	ExAC,gnomAD
PCGF2	P35227	p.Asn50Ser	rs369222947	missense variant	-	NC_000017.11:g.38739646T>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn50Lys	rs750977866	missense variant	-	NC_000017.11:g.38739645G>C	gnomAD
PCGF2	P35227	p.Tyr52His	rs749282221	missense variant	-	NC_000017.11:g.38739641A>G	ExAC,gnomAD
PCGF2	P35227	p.Asp57Glu	rs781097488	missense variant	-	NC_000017.11:g.38739624G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Met	rs376422988	missense variant	-	NC_000017.11:g.38739623C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Gly	rs764363872	missense variant	-	NC_000017.11:g.38739622A>C	ExAC,gnomAD
PCGF2	P35227	p.Val58Glu	rs764363872	missense variant	-	NC_000017.11:g.38739622A>T	ExAC,gnomAD
PCGF2	P35227	p.Gln59Pro	rs758623811	missense variant	-	NC_000017.11:g.38739619T>G	ExAC,gnomAD
PCGF2	P35227	p.Thr63Ile	rs753001499	missense variant	-	NC_000017.11:g.38739607G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Trp	rs765654378	missense variant	-	NC_000017.11:g.38739605G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Gln	rs1270907226	missense variant	-	NC_000017.11:g.38739604C>T	gnomAD
PCGF2	P35227	p.Pro65Leu	RCV000766184	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Ser	RCV000766185	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739602G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	RCV000758165	missense variant	-	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Ser	VAR_082086	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Pro65Leu	VAR_082085	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Leu66Gln	rs1407101094	missense variant	-	NC_000017.11:g.38739598A>T	TOPMed
PCGF2	P35227	p.Ser68Asn	rs765795827	missense variant	-	NC_000017.11:g.38739592C>T	ExAC,gnomAD
PCGF2	P35227	p.Ile69Val	rs760327885	missense variant	-	NC_000017.11:g.38739590T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser71Phe	rs1461367779	missense variant	-	NC_000017.11:g.38739251G>A	TOPMed
PCGF2	P35227	p.Lys73Glu	rs371103302	missense variant	-	NC_000017.11:g.38739246T>C	ESP,TOPMed
PCGF2	P35227	p.Lys73Arg	rs754174211	missense variant	-	NC_000017.11:g.38739245T>C	ExAC,gnomAD
PCGF2	P35227	p.Leu82Phe	rs780591825	missense variant	-	NC_000017.11:g.38739217C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp89Asn	rs756653107	missense variant	-	NC_000017.11:g.38739198C>T	ExAC,gnomAD
PCGF2	P35227	p.Met91Val	rs1195772306	missense variant	-	NC_000017.11:g.38739113T>C	TOPMed,gnomAD
PCGF2	P35227	p.Arg93Leu	rs1259877550	missense variant	-	NC_000017.11:g.38739106C>A	gnomAD
PCGF2	P35227	p.Arg93Trp	rs768877758	missense variant	-	NC_000017.11:g.38739107G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg94Gln	rs780536842	missense variant	-	NC_000017.11:g.38739103C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg94Trp	rs749508532	missense variant	-	NC_000017.11:g.38739104G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg95Trp	rs200480241	missense variant	-	NC_000017.11:g.38739101G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg95Gln	rs746360625	missense variant	-	NC_000017.11:g.38739100C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe97Leu	rs757705562	missense variant	-	NC_000017.11:g.38739093G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala99Gly	rs1412330889	missense variant	-	NC_000017.11:g.38739088G>C	TOPMed
PCGF2	P35227	p.Ala100Val	rs763533799	missense variant	-	NC_000017.11:g.38739085G>A	ExAC,gnomAD
PCGF2	P35227	p.Tyr101Cys	rs1011253528	missense variant	-	NC_000017.11:g.38739082T>C	TOPMed
PCGF2	P35227	p.Pro102Ser	rs764992830	missense variant	-	NC_000017.11:g.38739080G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr104Met	rs759394608	missense variant	-	NC_000017.11:g.38739073G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Ser	rs777012498	missense variant	-	NC_000017.11:g.38738853C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Arg	rs777012498	missense variant	-	NC_000017.11:g.38738853C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Asp	rs771238828	missense variant	-	NC_000017.11:g.38738852C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Val	rs771238828	missense variant	-	NC_000017.11:g.38738852C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser110Tyr	rs1163873738	missense variant	-	NC_000017.11:g.38738849G>T	gnomAD
PCGF2	P35227	p.Asn111Lys	rs1320317505	missense variant	-	NC_000017.11:g.38738845A>T	TOPMed
PCGF2	P35227	p.Asn111Ile	rs201412419	missense variant	-	NC_000017.11:g.38738846T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn111Ser	rs201412419	missense variant	-	NC_000017.11:g.38738846T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp113Glu	rs1370117279	missense variant	-	NC_000017.11:g.38738839G>T	gnomAD
PCGF2	P35227	p.Arg114Cys	rs778201270	missense variant	-	NC_000017.11:g.38738838G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg114Leu	rs554363495	missense variant	-	NC_000017.11:g.38738837C>A	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg114His	rs554363495	missense variant	-	NC_000017.11:g.38738837C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Gly115Ser	rs778419447	missense variant	-	NC_000017.11:g.38738835C>T	ExAC,gnomAD
PCGF2	P35227	p.Gly115Asp	rs754586944	missense variant	-	NC_000017.11:g.38738834C>T	ExAC,gnomAD
PCGF2	P35227	p.Glu116Lys	rs779878626	missense variant	-	NC_000017.11:g.38738832C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln120Glu	rs958236122	missense variant	-	NC_000017.11:g.38738820G>C	TOPMed,gnomAD
PCGF2	P35227	p.Lys122Asn	rs1369036219	missense variant	-	NC_000017.11:g.38738812C>G	gnomAD
PCGF2	P35227	p.Ala124Thr	rs1034297638	missense variant	-	NC_000017.11:g.38738808C>T	TOPMed,gnomAD
PCGF2	P35227	p.Ala124Val	rs1411468690	missense variant	-	NC_000017.11:g.38738807G>A	TOPMed
PCGF2	P35227	p.Ser126Asn	rs377546846	missense variant	-	NC_000017.11:g.38738801C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp128Glu	rs761851035	missense variant	-	NC_000017.11:g.38738794A>T	ExAC,gnomAD
PCGF2	P35227	p.Glu129Val	rs752773081	missense variant	-	NC_000017.11:g.38738792T>A	ExAC,gnomAD
PCGF2	P35227	p.Ile130Thr	rs765435276	missense variant	-	NC_000017.11:g.38738789A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu136Lys	rs373487471	missense variant	-	NC_000017.11:g.38738772C>T	1000Genomes,ESP,ExAC,gnomAD
PCGF2	P35227	p.Glu136Gly	rs1296507529	missense variant	-	NC_000017.11:g.38738771T>C	TOPMed
PCGF2	P35227	p.Glu136Asp	rs1251984310	missense variant	-	NC_000017.11:g.38738770T>G	gnomAD
PCGF2	P35227	p.Glu139Lys	rs201164684	missense variant	-	NC_000017.11:g.38738763C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly140Asp	rs1351561671	missense variant	-	NC_000017.11:g.38738759C>T	gnomAD
PCGF2	P35227	p.Ala141Thr	rs772521169	missense variant	-	NC_000017.11:g.38738757C>T	ExAC
PCGF2	P35227	p.Arg142Ser	rs1311059696	missense variant	-	NC_000017.11:g.38738595C>A	TOPMed
PCGF2	P35227	p.Asp143Val	rs1347323535	missense variant	-	NC_000017.11:g.38738593T>A	gnomAD
PCGF2	P35227	p.Arg144Trp	rs199504647	missense variant	-	NC_000017.11:g.38738591G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gln	rs773410790	missense variant	-	NC_000017.11:g.38738590C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gly	rs199504647	missense variant	-	NC_000017.11:g.38738591G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Leu	rs773410790	missense variant	-	NC_000017.11:g.38738590C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp145His	rs1443579650	missense variant	-	NC_000017.11:g.38738588C>G	TOPMed
PCGF2	P35227	p.Glu146Lys	rs1412816395	missense variant	-	NC_000017.11:g.38738585C>T	gnomAD
PCGF2	P35227	p.Lys147Gln	rs1237441991	missense variant	-	NC_000017.11:g.38738582T>G	TOPMed
PCGF2	P35227	p.Lys147Asn	rs774898974	missense variant	-	NC_000017.11:g.38738580C>G	ExAC,gnomAD
PCGF2	P35227	p.Lys147Thr	rs1374779710	missense variant	-	NC_000017.11:g.38738581T>G	gnomAD
PCGF2	P35227	p.Gly149Arg	rs1416945236	missense variant	-	NC_000017.11:g.38738576C>G	gnomAD
PCGF2	P35227	p.Pro150Ser	rs1167009859	missense variant	-	NC_000017.11:g.38738573G>A	gnomAD
PCGF2	P35227	p.Leu151Pro	rs748683854	missense variant	-	NC_000017.11:g.38738569A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu152Lys	rs775075296	missense variant	-	NC_000017.11:g.38738567C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp157Glu	rs142427824	missense variant	-	NC_000017.11:g.38738550G>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly162Arg	rs745485150	missense variant	-	NC_000017.11:g.38738445C>G	ExAC,gnomAD
PCGF2	P35227	p.Val163Met	rs776481995	missense variant	-	NC_000017.11:g.38738442C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg164Cys	rs1378038012	missense variant	-	NC_000017.11:g.38738439G>A	TOPMed
PCGF2	P35227	p.Arg164His	rs1027436811	missense variant	-	NC_000017.11:g.38738438C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg167Ter	rs368479811	stop gained	-	NC_000017.11:g.38738430G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg167Gln	rs746734324	missense variant	-	NC_000017.11:g.38738429C>T	ExAC,gnomAD
PCGF2	P35227	p.Ala170Pro	rs777733534	missense variant	-	NC_000017.11:g.38738421C>G	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	NC_000017.11:g.38738413C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	NC_000017.11:g.38738413C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Val	rs758229006	missense variant	-	NC_000017.11:g.38738415T>C	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	NC_000017.11:g.38738413C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val174Ile	rs756277723	missense variant	-	NC_000017.11:g.38738409C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His176Arg	rs750641343	missense variant	-	NC_000017.11:g.38738402T>C	ExAC,gnomAD
PCGF2	P35227	p.His176Leu	rs750641343	missense variant	-	NC_000017.11:g.38738402T>A	ExAC,gnomAD
PCGF2	P35227	p.Lys179Thr	rs757487665	missense variant	-	NC_000017.11:g.38738393T>G	ExAC,gnomAD
PCGF2	P35227	p.Arg182Cys	rs560971855	missense variant	-	NC_000017.11:g.38738385G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg182His	rs764470222	missense variant	-	NC_000017.11:g.38738384C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp186Glu	rs145409234	missense variant	-	NC_000017.11:g.38738371A>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu194Lys	rs1465655394	missense variant	-	NC_000017.11:g.38736167C>T	gnomAD
PCGF2	P35227	p.Val195Phe	rs773058381	missense variant	-	NC_000017.11:g.38736164C>A	ExAC,gnomAD
PCGF2	P35227	p.Val195Ile	rs773058381	missense variant	-	NC_000017.11:g.38736164C>T	ExAC,gnomAD
PCGF2	P35227	p.Glu198Gly	rs774034080	missense variant	-	NC_000017.11:g.38736154T>C	ExAC,gnomAD
PCGF2	P35227	p.Glu198Lys	rs568535028	missense variant	-	NC_000017.11:g.38736155C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu198Asp	rs768593615	missense variant	-	NC_000017.11:g.38736153C>G	ExAC,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	NC_000017.11:g.38736150G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	NC_000017.11:g.38736150G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Gly	rs749250708	missense variant	-	NC_000017.11:g.38736151T>C	ExAC,gnomAD
PCGF2	P35227	p.Glu200Lys	rs747215640	missense variant	-	NC_000017.11:g.38736149C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ala	rs1201949138	missense variant	-	NC_000017.11:g.38736146G>C	TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ser	rs1201949138	missense variant	-	NC_000017.11:g.38736146G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr207Ala	rs1260959083	missense variant	-	NC_000017.11:g.38736128T>C	TOPMed
PCGF2	P35227	p.Met209Val	rs1292047416	missense variant	-	NC_000017.11:g.38736122T>C	TOPMed,gnomAD
PCGF2	P35227	p.Ile211Val	rs1238145871	missense variant	-	NC_000017.11:g.38736116T>C	TOPMed
PCGF2	P35227	p.Ala212Val	rs1446850294	missense variant	-	NC_000017.11:g.38736112G>A	TOPMed,gnomAD
PCGF2	P35227	p.Ala212Thr	rs1304683105	missense variant	-	NC_000017.11:g.38736113C>T	gnomAD
PCGF2	P35227	p.Ile214Val	rs1460622087	missense variant	-	NC_000017.11:g.38736107T>C	gnomAD
PCGF2	P35227	p.Trp217Ter	rs1171109186	stop gained	-	NC_000017.11:g.38736096C>T	gnomAD
PCGF2	P35227	p.Arg218Trp	rs753047733	missense variant	-	NC_000017.11:g.38736095G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg218Gln	rs774439646	missense variant	-	NC_000017.11:g.38736094C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg219Trp	rs1186813888	missense variant	-	NC_000017.11:g.38736092G>A	gnomAD
PCGF2	P35227	p.Arg219Leu	rs755511901	missense variant	-	NC_000017.11:g.38736091C>A	ExAC,gnomAD
PCGF2	P35227	p.Arg219Gln	rs755511901	missense variant	-	NC_000017.11:g.38736091C>T	ExAC,gnomAD
PCGF2	P35227	p.Asn220Tyr	rs202151124	missense variant	-	NC_000017.11:g.38735600T>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn220Ser	rs773177453	missense variant	-	NC_000017.11:g.38735599T>C	ExAC,gnomAD
PCGF2	P35227	p.Gly221Arg	rs748359148	missense variant	-	NC_000017.11:g.38735597C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro224Leu	rs1242535395	missense variant	-	NC_000017.11:g.38735587G>A	gnomAD
PCGF2	P35227	p.Leu225Phe	rs1322585642	missense variant	-	NC_000017.11:g.38735585G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu225Ile	rs1322585642	missense variant	-	NC_000017.11:g.38735585G>T	TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Cys	rs779314891	missense variant	-	NC_000017.11:g.38735578T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Phe	rs779314891	missense variant	-	NC_000017.11:g.38735578T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228Cys	rs370844202	missense variant	-	NC_000017.11:g.38735576G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228His	rs201691898	missense variant	-	NC_000017.11:g.38735575C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg228Gly	rs370844202	missense variant	-	NC_000017.11:g.38735576G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln230Ter	rs1380321881	stop gained	-	NC_000017.11:g.38735570G>A	gnomAD
PCGF2	P35227	p.Pro231Ser	rs1452114686	missense variant	-	NC_000017.11:g.38735567G>A	gnomAD
PCGF2	P35227	p.Ala232Gly	rs749903360	missense variant	-	NC_000017.11:g.38735563G>C	ExAC,gnomAD
PCGF2	P35227	p.Cys233Tyr	rs756899659	missense variant	-	NC_000017.11:g.38735560C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Leu	rs535420083	missense variant	-	NC_000017.11:g.38735554C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Gln	rs535420083	missense variant	-	NC_000017.11:g.38735554C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Trp	rs200143494	missense variant	-	NC_000017.11:g.38735555G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu236Phe	rs189346950	missense variant	-	NC_000017.11:g.38735552G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr237Ile	rs925022214	missense variant	-	NC_000017.11:g.38735548G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu238Gln	rs368317834	missense variant	-	NC_000017.11:g.38735545A>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala239Thr	rs540892196	missense variant	-	NC_000017.11:g.38735543C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Thr240Met	rs759490790	missense variant	-	NC_000017.11:g.38735539G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val241Met	rs372019431	missense variant	-	NC_000017.11:g.38735537C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro242Leu	rs748390616	missense variant	-	NC_000017.11:g.38735533G>A	ExAC,gnomAD
PCGF2	P35227	p.Pro242Ser	rs772093442	missense variant	-	NC_000017.11:g.38735534G>A	ExAC
PCGF2	P35227	p.Thr243Ile	rs1172849279	missense variant	-	NC_000017.11:g.38735530G>A	gnomAD
PCGF2	P35227	p.Thr243Ser	rs1401012738	missense variant	-	NC_000017.11:g.38735531T>A	gnomAD
PCGF2	P35227	p.Pro244Leu	rs1379690664	missense variant	-	NC_000017.11:g.38735527G>A	gnomAD
PCGF2	P35227	p.Pro244Ser	rs1478818214	missense variant	-	NC_000017.11:g.38735528G>A	gnomAD
PCGF2	P35227	p.Glu246Lys	rs991646402	missense variant	-	NC_000017.11:g.38735522C>T	TOPMed,gnomAD
PCGF2	P35227	p.Glu246Val	rs769007309	missense variant	-	NC_000017.11:g.38735521T>A	ExAC
PCGF2	P35227	p.Glu246Gln	rs991646402	missense variant	-	NC_000017.11:g.38735522C>G	TOPMed,gnomAD
PCGF2	P35227	p.Thr248Asn	rs1489930211	missense variant	-	NC_000017.11:g.38735515G>T	gnomAD
PCGF2	P35227	p.Ser251Asn	rs1218889139	missense variant	-	NC_000017.11:g.38735506C>T	gnomAD
PCGF2	P35227	p.Gly252Arg	rs114574378	missense variant	-	NC_000017.11:g.38735504C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly252Trp	rs114574378	missense variant	-	NC_000017.11:g.38735504C>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala253Thr	rs1201204610	missense variant	-	NC_000017.11:g.38735501C>T	gnomAD
PCGF2	P35227	p.Ala253Val	rs1347439391	missense variant	-	NC_000017.11:g.38735500G>A	gnomAD
PCGF2	P35227	p.Glu255Lys	rs780727729	missense variant	-	NC_000017.11:g.38735495C>T	ExAC,gnomAD
PCGF2	P35227	p.Cys256Tyr	rs1280061078	missense variant	-	NC_000017.11:g.38735491C>T	gnomAD
PCGF2	P35227	p.Glu257Val	rs1368701098	missense variant	-	NC_000017.11:g.38735488T>A	TOPMed
PCGF2	P35227	p.Ser260Gly	rs1445142388	missense variant	-	NC_000017.11:g.38735480T>C	gnomAD
PCGF2	P35227	p.Asp261Asn	rs751218338	missense variant	-	NC_000017.11:g.38735477C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro266Ser	rs1168961421	missense variant	-	NC_000017.11:g.38735462G>A	gnomAD
PCGF2	P35227	p.Thr268Ile	rs1228477563	missense variant	-	NC_000017.11:g.38735455G>A	TOPMed
PCGF2	P35227	p.Pro270Leu	rs1196536292	missense variant	-	NC_000017.11:g.38735449G>A	gnomAD
PCGF2	P35227	p.Ala271Thr	rs1319854450	missense variant	-	NC_000017.11:g.38735447C>T	TOPMed
PCGF2	P35227	p.Leu276Val	rs752439412	missense variant	-	NC_000017.11:g.38735432G>C	ExAC,gnomAD
PCGF2	P35227	p.Ser278Arg	rs1256466420	missense variant	-	NC_000017.11:g.38735424G>T	gnomAD
PCGF2	P35227	p.Ser278Cys	rs1293516092	missense variant	-	NC_000017.11:g.38735426T>A	gnomAD
PCGF2	P35227	p.Ser278Thr	rs1265832095	missense variant	-	NC_000017.11:g.38735425C>G	TOPMed
PCGF2	P35227	p.Ala280Val	rs765047753	missense variant	-	NC_000017.11:g.38735419G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr281Asn	rs1246419795	missense variant	-	NC_000017.11:g.38735416G>T	TOPMed
PCGF2	P35227	p.Thr281Pro	rs759495717	missense variant	-	NC_000017.11:g.38735417T>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro287Ala	rs953468425	missense variant	-	NC_000017.11:g.38735399G>C	TOPMed,gnomAD
PCGF2	P35227	p.Pro287Leu	rs767632359	missense variant	-	NC_000017.11:g.38735398G>A	ExAC,gnomAD
PCGF2	P35227	p.Ser288Thr	rs761734103	missense variant	-	NC_000017.11:g.38735395C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser288Asn	rs761734103	missense variant	-	NC_000017.11:g.38735395C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser289Phe	rs1173316640	missense variant	-	NC_000017.11:g.38735392G>A	TOPMed,gnomAD
PCGF2	P35227	p.His290Gln	rs774589549	missense variant	-	NC_000017.11:g.38735388A>T	ExAC,gnomAD
PCGF2	P35227	p.Pro292Ser	rs1413723500	missense variant	-	NC_000017.11:g.38735384G>A	gnomAD
PCGF2	P35227	p.Thr295Ser	rs1163898126	missense variant	-	NC_000017.11:g.38735375T>A	gnomAD
PCGF2	P35227	p.Thr295Asn	rs768954307	missense variant	-	NC_000017.11:g.38735374G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His296Tyr	rs1236556702	missense variant	-	NC_000017.11:g.38735372G>A	gnomAD
PCGF2	P35227	p.His296Gln	rs763301851	missense variant	-	NC_000017.11:g.38735370G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro297Thr	rs1003229373	missense variant	-	NC_000017.11:g.38735369G>T	TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ser	rs775970031	missense variant	-	NC_000017.11:g.38735366T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ala	rs775970031	missense variant	-	NC_000017.11:g.38735366T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser299Cys	rs1376280131	missense variant	-	NC_000017.11:g.38735362G>C	TOPMed
PCGF2	P35227	p.Pro300Ala	rs1219123976	missense variant	-	NC_000017.11:g.38735360G>C	gnomAD
PCGF2	P35227	p.Pro300Leu	rs1450948881	missense variant	-	NC_000017.11:g.38735359G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr301Pro	rs1269726642	missense variant	-	NC_000017.11:g.38735357T>G	TOPMed
PCGF2	P35227	p.Pro303Leu	rs1350932686	missense variant	-	NC_000017.11:g.38735350G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro303Ala	rs746369251	missense variant	-	NC_000017.11:g.38735351G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro303Ser	rs746369251	missense variant	-	NC_000017.11:g.38735351G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser304Leu	rs1307931350	missense variant	-	NC_000017.11:g.38735347G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr305Ala	rs1188153848	missense variant	-	NC_000017.11:g.38735345T>C	TOPMed
PCGF2	P35227	p.Thr305Pro	rs1188153848	missense variant	-	NC_000017.11:g.38735345T>G	TOPMed
PCGF2	P35227	p.Ser307Gly	rs781613328	missense variant	-	NC_000017.11:g.38735339T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser307Arg	rs1434836110	missense variant	-	NC_000017.11:g.38735337A>C	gnomAD
PCGF2	P35227	p.Gly308Glu	rs1324828600	missense variant	-	NC_000017.11:g.38735335C>T	gnomAD
PCGF2	P35227	p.Gly308Arg	rs1349805834	missense variant	-	NC_000017.11:g.38735336C>T	gnomAD
PCGF2	P35227	p.Thr310Ala	rs1378510208	missense variant	-	NC_000017.11:g.38735330T>C	gnomAD
PCGF2	P35227	p.Thr311Ile	rs1440488481	missense variant	-	NC_000017.11:g.38735326G>A	gnomAD
PCGF2	P35227	p.Thr311Arg	rs1440488481	missense variant	-	NC_000017.11:g.38735326G>C	gnomAD
PCGF2	P35227	p.Ala312Asp	rs1189241824	missense variant	-	NC_000017.11:g.38735323G>T	gnomAD
PCGF2	P35227	p.Ala313Asp	rs143182107	missense variant	-	NC_000017.11:g.38735320G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala313Val	rs143182107	missense variant	-	NC_000017.11:g.38735320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly315Glu	rs1049689204	missense variant	-	NC_000017.11:g.38735314C>T	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Ala	rs1049689204	missense variant	-	NC_000017.11:g.38735314C>G	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Val	rs1049689204	missense variant	-	NC_000017.11:g.38735314C>A	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Arg	rs746445618	missense variant	-	NC_000017.11:g.38735315C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly316Ser	rs372971271	missense variant	-	NC_000017.11:g.38735312C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser317Cys	rs1298823443	missense variant	-	NC_000017.11:g.38735309T>A	gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	NC_000017.11:g.38735304C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	NC_000017.11:g.38735304C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser325Phe	rs1303419555	missense variant	-	NC_000017.11:g.38735284G>A	TOPMed
PCGF2	P35227	p.Ser326Phe	rs1275843223	missense variant	-	NC_000017.11:g.38735281G>A	gnomAD
PCGF2	P35227	p.Ser326Pro	rs1367282284	missense variant	-	NC_000017.11:g.38735282A>G	gnomAD
PCGF2	P35227	p.Arg331His	rs778666838	missense variant	-	NC_000017.11:g.38735266C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Lys332Glu	rs1297640476	missense variant	-	NC_000017.11:g.38735264T>C	gnomAD
PCGF2	P35227	p.Val335Ala	rs1174278285	missense variant	-	NC_000017.11:g.38735254A>G	gnomAD
PCGF2	P35227	p.Val335Ile	rs1310575120	missense variant	-	NC_000017.11:g.38735255C>T	TOPMed
PCGF2	P35227	p.Gly337Ser	rs1201324546	missense variant	-	NC_000017.11:g.38735249C>T	gnomAD
PCGF2	P35227	p.Ala338Thr	rs972720076	missense variant	-	NC_000017.11:g.38735246C>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro339Leu	rs760680898	missense variant	-	NC_000017.11:g.38735242G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Met	rs764305411	missense variant	-	NC_000017.11:g.38735240C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Leu	rs764305411	missense variant	-	NC_000017.11:g.38735240C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro341Thr	rs1208938665	missense variant	-	NC_000017.11:g.38735237G>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro341Ser	rs1208938665	missense variant	-	NC_000017.11:g.38735237G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro342Leu	rs770193210	missense variant	-	NC_000017.11:g.38735233G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342His	rs770193210	missense variant	-	NC_000017.11:g.38735233G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Arg	rs770193210	missense variant	-	NC_000017.11:g.38735233G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Thr	rs775916672	missense variant	-	NC_000017.11:g.38735234G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Ala	rs775916672	missense variant	-	NC_000017.11:g.38735234G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ter345Unk	rs1400663223	stop lost	-	NC_000017.11:g.38735224del	gnomAD
PCGF2	P35227	p.His2Pro	rs1164566149	missense variant	-	NC_000017.11:g.38740398T>G	TOPMed,gnomAD
PCGF2	P35227	p.Arg3Leu	rs774706646	missense variant	-	NC_000017.11:g.38740395C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg3Gln	rs774706646	missense variant	-	NC_000017.11:g.38740395C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg6Gly	rs749819496	missense variant	-	NC_000017.11:g.38740387G>C	ExAC,gnomAD
PCGF2	P35227	p.Arg6Gln	rs779496705	missense variant	-	NC_000017.11:g.38740386C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg6Trp	rs749819496	missense variant	-	NC_000017.11:g.38740387G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr10Arg	rs1251160108	missense variant	-	NC_000017.11:g.38740374G>C	gnomAD
PCGF2	P35227	p.Pro14Thr	rs780765988	missense variant	-	NC_000017.11:g.38740363G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Phe	rs757069949	missense variant	-	NC_000017.11:g.38740357G>A	ExAC,gnomAD
PCGF2	P35227	p.Leu16Ile	rs757069949	missense variant	-	NC_000017.11:g.38740357G>T	ExAC,gnomAD
PCGF2	P35227	p.Met17Ile	rs751245494	missense variant	-	NC_000017.11:g.38740352C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala19Pro	rs777722903	missense variant	-	NC_000017.11:g.38740348C>G	ExAC,gnomAD
PCGF2	P35227	p.Leu20Ile	rs1335630874	missense variant	-	NC_000017.11:g.38740345G>T	gnomAD
PCGF2	P35227	p.Gly22Arg	rs752723799	missense variant	-	NC_000017.11:g.38740339C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly22Trp	rs752723799	missense variant	-	NC_000017.11:g.38740339C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly23Glu	rs1388718872	missense variant	-	NC_000017.11:g.38740335C>T	gnomAD
PCGF2	P35227	p.Asp27Asn	rs1420332509	missense variant	-	NC_000017.11:g.38740324C>T	gnomAD
PCGF2	P35227	p.Ala28Thr	rs968126661	missense variant	-	NC_000017.11:g.38740321C>T	gnomAD
PCGF2	P35227	p.Thr29Ile	rs767571747	missense variant	-	NC_000017.11:g.38740317G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ile31Met	rs774651597	missense variant	-	NC_000017.11:g.38740310G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val32Met	rs140843241	missense variant	-	NC_000017.11:g.38740309C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe38Leu	rs1352006959	missense variant	-	NC_000017.11:g.38740291A>G	TOPMed
PCGF2	P35227	p.Thr41Ala	rs770516158	missense variant	-	NC_000017.11:g.38739674T>C	ExAC,gnomAD
PCGF2	P35227	p.Val44Met	rs1412561472	missense variant	-	NC_000017.11:g.38739665C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg45His	rs145569563	missense variant	-	NC_000017.11:g.38739661C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg45Cys	rs147291159	missense variant	-	NC_000017.11:g.38739662G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu48Asp	rs778786385	missense variant	-	NC_000017.11:g.38739651C>A	ExAC,gnomAD
PCGF2	P35227	p.Asn50Lys	rs750977866	missense variant	-	NC_000017.11:g.38739645G>C	gnomAD
PCGF2	P35227	p.Asn50Ser	rs369222947	missense variant	-	NC_000017.11:g.38739646T>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Tyr52His	rs749282221	missense variant	-	NC_000017.11:g.38739641A>G	ExAC,gnomAD
PCGF2	P35227	p.Asp57Glu	rs781097488	missense variant	-	NC_000017.11:g.38739624G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Met	rs376422988	missense variant	-	NC_000017.11:g.38739623C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Glu	rs764363872	missense variant	-	NC_000017.11:g.38739622A>T	ExAC,gnomAD
PCGF2	P35227	p.Val58Gly	rs764363872	missense variant	-	NC_000017.11:g.38739622A>C	ExAC,gnomAD
PCGF2	P35227	p.Gln59Pro	rs758623811	missense variant	-	NC_000017.11:g.38739619T>G	ExAC,gnomAD
PCGF2	P35227	p.Thr63Ile	rs753001499	missense variant	-	NC_000017.11:g.38739607G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Trp	rs765654378	missense variant	-	NC_000017.11:g.38739605G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Gln	rs1270907226	missense variant	-	NC_000017.11:g.38739604C>T	gnomAD
PCGF2	P35227	p.Pro65Leu	RCV000766184	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	RCV000758165	missense variant	-	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Ser	RCV000766185	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739602G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	VAR_082085	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Pro65Ser	VAR_082086	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Leu66Gln	rs1407101094	missense variant	-	NC_000017.11:g.38739598A>T	TOPMed
PCGF2	P35227	p.Ser68Asn	rs765795827	missense variant	-	NC_000017.11:g.38739592C>T	ExAC,gnomAD
PCGF2	P35227	p.Ile69Val	rs760327885	missense variant	-	NC_000017.11:g.38739590T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser71Phe	rs1461367779	missense variant	-	NC_000017.11:g.38739251G>A	TOPMed
PCGF2	P35227	p.Lys73Glu	rs371103302	missense variant	-	NC_000017.11:g.38739246T>C	ESP,TOPMed
PCGF2	P35227	p.Lys73Arg	rs754174211	missense variant	-	NC_000017.11:g.38739245T>C	ExAC,gnomAD
PCGF2	P35227	p.Leu82Phe	rs780591825	missense variant	-	NC_000017.11:g.38739217C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp89Asn	rs756653107	missense variant	-	NC_000017.11:g.38739198C>T	ExAC,gnomAD
PCGF2	P35227	p.Met91Val	rs1195772306	missense variant	-	NC_000017.11:g.38739113T>C	TOPMed,gnomAD
PCGF2	P35227	p.Arg93Leu	rs1259877550	missense variant	-	NC_000017.11:g.38739106C>A	gnomAD
PCGF2	P35227	p.Arg93Trp	rs768877758	missense variant	-	NC_000017.11:g.38739107G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg94Trp	rs749508532	missense variant	-	NC_000017.11:g.38739104G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg94Gln	rs780536842	missense variant	-	NC_000017.11:g.38739103C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg95Trp	rs200480241	missense variant	-	NC_000017.11:g.38739101G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg95Gln	rs746360625	missense variant	-	NC_000017.11:g.38739100C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe97Leu	rs757705562	missense variant	-	NC_000017.11:g.38739093G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala99Gly	rs1412330889	missense variant	-	NC_000017.11:g.38739088G>C	TOPMed
PCGF2	P35227	p.Ala100Val	rs763533799	missense variant	-	NC_000017.11:g.38739085G>A	ExAC,gnomAD
PCGF2	P35227	p.Tyr101Cys	rs1011253528	missense variant	-	NC_000017.11:g.38739082T>C	TOPMed
PCGF2	P35227	p.Pro102Ser	rs764992830	missense variant	-	NC_000017.11:g.38739080G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr104Met	rs759394608	missense variant	-	NC_000017.11:g.38739073G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Arg	rs777012498	missense variant	-	NC_000017.11:g.38738853C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Ser	rs777012498	missense variant	-	NC_000017.11:g.38738853C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Val	rs771238828	missense variant	-	NC_000017.11:g.38738852C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Asp	rs771238828	missense variant	-	NC_000017.11:g.38738852C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser110Tyr	rs1163873738	missense variant	-	NC_000017.11:g.38738849G>T	gnomAD
PCGF2	P35227	p.Asn111Ser	rs201412419	missense variant	-	NC_000017.11:g.38738846T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn111Lys	rs1320317505	missense variant	-	NC_000017.11:g.38738845A>T	TOPMed
PCGF2	P35227	p.Asn111Ile	rs201412419	missense variant	-	NC_000017.11:g.38738846T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp113Glu	rs1370117279	missense variant	-	NC_000017.11:g.38738839G>T	gnomAD
PCGF2	P35227	p.Arg114His	rs554363495	missense variant	-	NC_000017.11:g.38738837C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg114Leu	rs554363495	missense variant	-	NC_000017.11:g.38738837C>A	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg114Cys	rs778201270	missense variant	-	NC_000017.11:g.38738838G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly115Ser	rs778419447	missense variant	-	NC_000017.11:g.38738835C>T	ExAC,gnomAD
PCGF2	P35227	p.Gly115Asp	rs754586944	missense variant	-	NC_000017.11:g.38738834C>T	ExAC,gnomAD
PCGF2	P35227	p.Glu116Lys	rs779878626	missense variant	-	NC_000017.11:g.38738832C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln120Glu	rs958236122	missense variant	-	NC_000017.11:g.38738820G>C	TOPMed,gnomAD
PCGF2	P35227	p.Lys122Asn	rs1369036219	missense variant	-	NC_000017.11:g.38738812C>G	gnomAD
PCGF2	P35227	p.Ala124Val	rs1411468690	missense variant	-	NC_000017.11:g.38738807G>A	TOPMed
PCGF2	P35227	p.Ala124Thr	rs1034297638	missense variant	-	NC_000017.11:g.38738808C>T	TOPMed,gnomAD
PCGF2	P35227	p.Ser126Asn	rs377546846	missense variant	-	NC_000017.11:g.38738801C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp128Glu	rs761851035	missense variant	-	NC_000017.11:g.38738794A>T	ExAC,gnomAD
PCGF2	P35227	p.Glu129Val	rs752773081	missense variant	-	NC_000017.11:g.38738792T>A	ExAC,gnomAD
PCGF2	P35227	p.Ile130Thr	rs765435276	missense variant	-	NC_000017.11:g.38738789A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu136Lys	rs373487471	missense variant	-	NC_000017.11:g.38738772C>T	1000Genomes,ESP,ExAC,gnomAD
PCGF2	P35227	p.Glu136Gly	rs1296507529	missense variant	-	NC_000017.11:g.38738771T>C	TOPMed
PCGF2	P35227	p.Glu136Asp	rs1251984310	missense variant	-	NC_000017.11:g.38738770T>G	gnomAD
PCGF2	P35227	p.Glu139Lys	rs201164684	missense variant	-	NC_000017.11:g.38738763C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly140Asp	rs1351561671	missense variant	-	NC_000017.11:g.38738759C>T	gnomAD
PCGF2	P35227	p.Ala141Thr	rs772521169	missense variant	-	NC_000017.11:g.38738757C>T	ExAC
PCGF2	P35227	p.Arg142Ser	rs1311059696	missense variant	-	NC_000017.11:g.38738595C>A	TOPMed
PCGF2	P35227	p.Asp143Val	rs1347323535	missense variant	-	NC_000017.11:g.38738593T>A	gnomAD
PCGF2	P35227	p.Arg144Gln	rs773410790	missense variant	-	NC_000017.11:g.38738590C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Trp	rs199504647	missense variant	-	NC_000017.11:g.38738591G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gly	rs199504647	missense variant	-	NC_000017.11:g.38738591G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Leu	rs773410790	missense variant	-	NC_000017.11:g.38738590C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp145His	rs1443579650	missense variant	-	NC_000017.11:g.38738588C>G	TOPMed
PCGF2	P35227	p.Glu146Lys	rs1412816395	missense variant	-	NC_000017.11:g.38738585C>T	gnomAD
PCGF2	P35227	p.Lys147Gln	rs1237441991	missense variant	-	NC_000017.11:g.38738582T>G	TOPMed
PCGF2	P35227	p.Lys147Asn	rs774898974	missense variant	-	NC_000017.11:g.38738580C>G	ExAC,gnomAD
PCGF2	P35227	p.Lys147Thr	rs1374779710	missense variant	-	NC_000017.11:g.38738581T>G	gnomAD
PCGF2	P35227	p.Gly149Arg	rs1416945236	missense variant	-	NC_000017.11:g.38738576C>G	gnomAD
PCGF2	P35227	p.Pro150Ser	rs1167009859	missense variant	-	NC_000017.11:g.38738573G>A	gnomAD
PCGF2	P35227	p.Leu151Pro	rs748683854	missense variant	-	NC_000017.11:g.38738569A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu152Lys	rs775075296	missense variant	-	NC_000017.11:g.38738567C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp157Glu	rs142427824	missense variant	-	NC_000017.11:g.38738550G>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly162Arg	rs745485150	missense variant	-	NC_000017.11:g.38738445C>G	ExAC,gnomAD
PCGF2	P35227	p.Val163Met	rs776481995	missense variant	-	NC_000017.11:g.38738442C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg164Cys	rs1378038012	missense variant	-	NC_000017.11:g.38738439G>A	TOPMed
PCGF2	P35227	p.Arg164His	rs1027436811	missense variant	-	NC_000017.11:g.38738438C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg167Ter	rs368479811	stop gained	-	NC_000017.11:g.38738430G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg167Gln	rs746734324	missense variant	-	NC_000017.11:g.38738429C>T	ExAC,gnomAD
PCGF2	P35227	p.Ala170Pro	rs777733534	missense variant	-	NC_000017.11:g.38738421C>G	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	NC_000017.11:g.38738413C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	NC_000017.11:g.38738413C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	NC_000017.11:g.38738413C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Val	rs758229006	missense variant	-	NC_000017.11:g.38738415T>C	ExAC,gnomAD
PCGF2	P35227	p.Val174Ile	rs756277723	missense variant	-	NC_000017.11:g.38738409C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His176Leu	rs750641343	missense variant	-	NC_000017.11:g.38738402T>A	ExAC,gnomAD
PCGF2	P35227	p.His176Arg	rs750641343	missense variant	-	NC_000017.11:g.38738402T>C	ExAC,gnomAD
PCGF2	P35227	p.Lys179Thr	rs757487665	missense variant	-	NC_000017.11:g.38738393T>G	ExAC,gnomAD
PCGF2	P35227	p.Arg182Cys	rs560971855	missense variant	-	NC_000017.11:g.38738385G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg182His	rs764470222	missense variant	-	NC_000017.11:g.38738384C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp186Glu	rs145409234	missense variant	-	NC_000017.11:g.38738371A>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu194Lys	rs1465655394	missense variant	-	NC_000017.11:g.38736167C>T	gnomAD
PCGF2	P35227	p.Val195Phe	rs773058381	missense variant	-	NC_000017.11:g.38736164C>A	ExAC,gnomAD
PCGF2	P35227	p.Val195Ile	rs773058381	missense variant	-	NC_000017.11:g.38736164C>T	ExAC,gnomAD
PCGF2	P35227	p.Glu198Gly	rs774034080	missense variant	-	NC_000017.11:g.38736154T>C	ExAC,gnomAD
PCGF2	P35227	p.Glu198Lys	rs568535028	missense variant	-	NC_000017.11:g.38736155C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu198Asp	rs768593615	missense variant	-	NC_000017.11:g.38736153C>G	ExAC,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	NC_000017.11:g.38736150G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	NC_000017.11:g.38736150G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Gly	rs749250708	missense variant	-	NC_000017.11:g.38736151T>C	ExAC,gnomAD
PCGF2	P35227	p.Glu200Lys	rs747215640	missense variant	-	NC_000017.11:g.38736149C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ser	rs1201949138	missense variant	-	NC_000017.11:g.38736146G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ala	rs1201949138	missense variant	-	NC_000017.11:g.38736146G>C	TOPMed,gnomAD
PCGF2	P35227	p.Thr207Ala	rs1260959083	missense variant	-	NC_000017.11:g.38736128T>C	TOPMed
PCGF2	P35227	p.Met209Val	rs1292047416	missense variant	-	NC_000017.11:g.38736122T>C	TOPMed,gnomAD
PCGF2	P35227	p.Ile211Val	rs1238145871	missense variant	-	NC_000017.11:g.38736116T>C	TOPMed
PCGF2	P35227	p.Ala212Val	rs1446850294	missense variant	-	NC_000017.11:g.38736112G>A	TOPMed,gnomAD
PCGF2	P35227	p.Ala212Thr	rs1304683105	missense variant	-	NC_000017.11:g.38736113C>T	gnomAD
PCGF2	P35227	p.Ile214Val	rs1460622087	missense variant	-	NC_000017.11:g.38736107T>C	gnomAD
PCGF2	P35227	p.Trp217Ter	rs1171109186	stop gained	-	NC_000017.11:g.38736096C>T	gnomAD
PCGF2	P35227	p.Arg218Trp	rs753047733	missense variant	-	NC_000017.11:g.38736095G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg218Gln	rs774439646	missense variant	-	NC_000017.11:g.38736094C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg219Gln	rs755511901	missense variant	-	NC_000017.11:g.38736091C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg219Trp	rs1186813888	missense variant	-	NC_000017.11:g.38736092G>A	gnomAD
PCGF2	P35227	p.Arg219Leu	rs755511901	missense variant	-	NC_000017.11:g.38736091C>A	ExAC,gnomAD
PCGF2	P35227	p.Asn220Ser	rs773177453	missense variant	-	NC_000017.11:g.38735599T>C	ExAC,gnomAD
PCGF2	P35227	p.Asn220Tyr	rs202151124	missense variant	-	NC_000017.11:g.38735600T>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly221Arg	rs748359148	missense variant	-	NC_000017.11:g.38735597C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro224Leu	rs1242535395	missense variant	-	NC_000017.11:g.38735587G>A	gnomAD
PCGF2	P35227	p.Leu225Phe	rs1322585642	missense variant	-	NC_000017.11:g.38735585G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu225Ile	rs1322585642	missense variant	-	NC_000017.11:g.38735585G>T	TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Phe	rs779314891	missense variant	-	NC_000017.11:g.38735578T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Cys	rs779314891	missense variant	-	NC_000017.11:g.38735578T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228Gly	rs370844202	missense variant	-	NC_000017.11:g.38735576G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228Cys	rs370844202	missense variant	-	NC_000017.11:g.38735576G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228His	rs201691898	missense variant	-	NC_000017.11:g.38735575C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Gln230Ter	rs1380321881	stop gained	-	NC_000017.11:g.38735570G>A	gnomAD
PCGF2	P35227	p.Pro231Ser	rs1452114686	missense variant	-	NC_000017.11:g.38735567G>A	gnomAD
PCGF2	P35227	p.Ala232Gly	rs749903360	missense variant	-	NC_000017.11:g.38735563G>C	ExAC,gnomAD
PCGF2	P35227	p.Cys233Tyr	rs756899659	missense variant	-	NC_000017.11:g.38735560C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Leu	rs535420083	missense variant	-	NC_000017.11:g.38735554C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Gln	rs535420083	missense variant	-	NC_000017.11:g.38735554C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Trp	rs200143494	missense variant	-	NC_000017.11:g.38735555G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu236Phe	rs189346950	missense variant	-	NC_000017.11:g.38735552G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr237Ile	rs925022214	missense variant	-	NC_000017.11:g.38735548G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu238Gln	rs368317834	missense variant	-	NC_000017.11:g.38735545A>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala239Thr	rs540892196	missense variant	-	NC_000017.11:g.38735543C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Thr240Met	rs759490790	missense variant	-	NC_000017.11:g.38735539G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val241Met	rs372019431	missense variant	-	NC_000017.11:g.38735537C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro242Leu	rs748390616	missense variant	-	NC_000017.11:g.38735533G>A	ExAC,gnomAD
PCGF2	P35227	p.Pro242Ser	rs772093442	missense variant	-	NC_000017.11:g.38735534G>A	ExAC
PCGF2	P35227	p.Thr243Ile	rs1172849279	missense variant	-	NC_000017.11:g.38735530G>A	gnomAD
PCGF2	P35227	p.Thr243Ser	rs1401012738	missense variant	-	NC_000017.11:g.38735531T>A	gnomAD
PCGF2	P35227	p.Pro244Leu	rs1379690664	missense variant	-	NC_000017.11:g.38735527G>A	gnomAD
PCGF2	P35227	p.Pro244Ser	rs1478818214	missense variant	-	NC_000017.11:g.38735528G>A	gnomAD
PCGF2	P35227	p.Glu246Val	rs769007309	missense variant	-	NC_000017.11:g.38735521T>A	ExAC
PCGF2	P35227	p.Glu246Lys	rs991646402	missense variant	-	NC_000017.11:g.38735522C>T	TOPMed,gnomAD
PCGF2	P35227	p.Glu246Gln	rs991646402	missense variant	-	NC_000017.11:g.38735522C>G	TOPMed,gnomAD
PCGF2	P35227	p.Thr248Asn	rs1489930211	missense variant	-	NC_000017.11:g.38735515G>T	gnomAD
PCGF2	P35227	p.Ser251Asn	rs1218889139	missense variant	-	NC_000017.11:g.38735506C>T	gnomAD
PCGF2	P35227	p.Gly252Trp	rs114574378	missense variant	-	NC_000017.11:g.38735504C>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly252Arg	rs114574378	missense variant	-	NC_000017.11:g.38735504C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala253Thr	rs1201204610	missense variant	-	NC_000017.11:g.38735501C>T	gnomAD
PCGF2	P35227	p.Ala253Val	rs1347439391	missense variant	-	NC_000017.11:g.38735500G>A	gnomAD
PCGF2	P35227	p.Glu255Lys	rs780727729	missense variant	-	NC_000017.11:g.38735495C>T	ExAC,gnomAD
PCGF2	P35227	p.Cys256Tyr	rs1280061078	missense variant	-	NC_000017.11:g.38735491C>T	gnomAD
PCGF2	P35227	p.Glu257Val	rs1368701098	missense variant	-	NC_000017.11:g.38735488T>A	TOPMed
PCGF2	P35227	p.Ser260Gly	rs1445142388	missense variant	-	NC_000017.11:g.38735480T>C	gnomAD
PCGF2	P35227	p.Asp261Asn	rs751218338	missense variant	-	NC_000017.11:g.38735477C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro266Ser	rs1168961421	missense variant	-	NC_000017.11:g.38735462G>A	gnomAD
PCGF2	P35227	p.Thr268Ile	rs1228477563	missense variant	-	NC_000017.11:g.38735455G>A	TOPMed
PCGF2	P35227	p.Pro270Leu	rs1196536292	missense variant	-	NC_000017.11:g.38735449G>A	gnomAD
PCGF2	P35227	p.Ala271Thr	rs1319854450	missense variant	-	NC_000017.11:g.38735447C>T	TOPMed
PCGF2	P35227	p.Leu276Val	rs752439412	missense variant	-	NC_000017.11:g.38735432G>C	ExAC,gnomAD
PCGF2	P35227	p.Ser278Arg	rs1256466420	missense variant	-	NC_000017.11:g.38735424G>T	gnomAD
PCGF2	P35227	p.Ser278Cys	rs1293516092	missense variant	-	NC_000017.11:g.38735426T>A	gnomAD
PCGF2	P35227	p.Ser278Thr	rs1265832095	missense variant	-	NC_000017.11:g.38735425C>G	TOPMed
PCGF2	P35227	p.Ala280Val	rs765047753	missense variant	-	NC_000017.11:g.38735419G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr281Asn	rs1246419795	missense variant	-	NC_000017.11:g.38735416G>T	TOPMed
PCGF2	P35227	p.Thr281Pro	rs759495717	missense variant	-	NC_000017.11:g.38735417T>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro287Leu	rs767632359	missense variant	-	NC_000017.11:g.38735398G>A	ExAC,gnomAD
PCGF2	P35227	p.Pro287Ala	rs953468425	missense variant	-	NC_000017.11:g.38735399G>C	TOPMed,gnomAD
PCGF2	P35227	p.Ser288Thr	rs761734103	missense variant	-	NC_000017.11:g.38735395C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser288Asn	rs761734103	missense variant	-	NC_000017.11:g.38735395C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser289Phe	rs1173316640	missense variant	-	NC_000017.11:g.38735392G>A	TOPMed,gnomAD
PCGF2	P35227	p.His290Gln	rs774589549	missense variant	-	NC_000017.11:g.38735388A>T	ExAC,gnomAD
PCGF2	P35227	p.Pro292Ser	rs1413723500	missense variant	-	NC_000017.11:g.38735384G>A	gnomAD
PCGF2	P35227	p.Thr295Asn	rs768954307	missense variant	-	NC_000017.11:g.38735374G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr295Ser	rs1163898126	missense variant	-	NC_000017.11:g.38735375T>A	gnomAD
PCGF2	P35227	p.His296Tyr	rs1236556702	missense variant	-	NC_000017.11:g.38735372G>A	gnomAD
PCGF2	P35227	p.His296Gln	rs763301851	missense variant	-	NC_000017.11:g.38735370G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro297Thr	rs1003229373	missense variant	-	NC_000017.11:g.38735369G>T	TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ala	rs775970031	missense variant	-	NC_000017.11:g.38735366T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ser	rs775970031	missense variant	-	NC_000017.11:g.38735366T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser299Cys	rs1376280131	missense variant	-	NC_000017.11:g.38735362G>C	TOPMed
PCGF2	P35227	p.Pro300Leu	rs1450948881	missense variant	-	NC_000017.11:g.38735359G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro300Ala	rs1219123976	missense variant	-	NC_000017.11:g.38735360G>C	gnomAD
PCGF2	P35227	p.Thr301Pro	rs1269726642	missense variant	-	NC_000017.11:g.38735357T>G	TOPMed
PCGF2	P35227	p.Pro303Ala	rs746369251	missense variant	-	NC_000017.11:g.38735351G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro303Leu	rs1350932686	missense variant	-	NC_000017.11:g.38735350G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro303Ser	rs746369251	missense variant	-	NC_000017.11:g.38735351G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser304Leu	rs1307931350	missense variant	-	NC_000017.11:g.38735347G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr305Ala	rs1188153848	missense variant	-	NC_000017.11:g.38735345T>C	TOPMed
PCGF2	P35227	p.Thr305Pro	rs1188153848	missense variant	-	NC_000017.11:g.38735345T>G	TOPMed
PCGF2	P35227	p.Ser307Gly	rs781613328	missense variant	-	NC_000017.11:g.38735339T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser307Arg	rs1434836110	missense variant	-	NC_000017.11:g.38735337A>C	gnomAD
PCGF2	P35227	p.Gly308Arg	rs1349805834	missense variant	-	NC_000017.11:g.38735336C>T	gnomAD
PCGF2	P35227	p.Gly308Glu	rs1324828600	missense variant	-	NC_000017.11:g.38735335C>T	gnomAD
PCGF2	P35227	p.Thr310Ala	rs1378510208	missense variant	-	NC_000017.11:g.38735330T>C	gnomAD
PCGF2	P35227	p.Thr311Arg	rs1440488481	missense variant	-	NC_000017.11:g.38735326G>C	gnomAD
PCGF2	P35227	p.Thr311Ile	rs1440488481	missense variant	-	NC_000017.11:g.38735326G>A	gnomAD
PCGF2	P35227	p.Ala312Asp	rs1189241824	missense variant	-	NC_000017.11:g.38735323G>T	gnomAD
PCGF2	P35227	p.Ala313Asp	rs143182107	missense variant	-	NC_000017.11:g.38735320G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala313Val	rs143182107	missense variant	-	NC_000017.11:g.38735320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly315Val	rs1049689204	missense variant	-	NC_000017.11:g.38735314C>A	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Glu	rs1049689204	missense variant	-	NC_000017.11:g.38735314C>T	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Ala	rs1049689204	missense variant	-	NC_000017.11:g.38735314C>G	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Arg	rs746445618	missense variant	-	NC_000017.11:g.38735315C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly316Ser	rs372971271	missense variant	-	NC_000017.11:g.38735312C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser317Cys	rs1298823443	missense variant	-	NC_000017.11:g.38735309T>A	gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	NC_000017.11:g.38735304C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	NC_000017.11:g.38735304C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser325Phe	rs1303419555	missense variant	-	NC_000017.11:g.38735284G>A	TOPMed
PCGF2	P35227	p.Ser326Pro	rs1367282284	missense variant	-	NC_000017.11:g.38735282A>G	gnomAD
PCGF2	P35227	p.Ser326Phe	rs1275843223	missense variant	-	NC_000017.11:g.38735281G>A	gnomAD
PCGF2	P35227	p.Arg331His	rs778666838	missense variant	-	NC_000017.11:g.38735266C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Lys332Glu	rs1297640476	missense variant	-	NC_000017.11:g.38735264T>C	gnomAD
PCGF2	P35227	p.Val335Ile	rs1310575120	missense variant	-	NC_000017.11:g.38735255C>T	TOPMed
PCGF2	P35227	p.Val335Ala	rs1174278285	missense variant	-	NC_000017.11:g.38735254A>G	gnomAD
PCGF2	P35227	p.Gly337Ser	rs1201324546	missense variant	-	NC_000017.11:g.38735249C>T	gnomAD
PCGF2	P35227	p.Ala338Thr	rs972720076	missense variant	-	NC_000017.11:g.38735246C>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro339Leu	rs760680898	missense variant	-	NC_000017.11:g.38735242G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Met	rs764305411	missense variant	-	NC_000017.11:g.38735240C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Leu	rs764305411	missense variant	-	NC_000017.11:g.38735240C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro341Thr	rs1208938665	missense variant	-	NC_000017.11:g.38735237G>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro341Ser	rs1208938665	missense variant	-	NC_000017.11:g.38735237G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro342Ala	rs775916672	missense variant	-	NC_000017.11:g.38735234G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342His	rs770193210	missense variant	-	NC_000017.11:g.38735233G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Leu	rs770193210	missense variant	-	NC_000017.11:g.38735233G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Thr	rs775916672	missense variant	-	NC_000017.11:g.38735234G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Arg	rs770193210	missense variant	-	NC_000017.11:g.38735233G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ter345Unk	rs1400663223	stop lost	-	NC_000017.11:g.38735224del	gnomAD
PCGF2	P35227	p.His2Pro	rs1164566149	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541185T>G	TOPMed,gnomAD
PCGF2	P35227	p.Arg3Leu	rs774706646	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541182C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg3Gln	rs774706646	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541182C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg6Gly	rs749819496	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541174G>C	ExAC,gnomAD
PCGF2	P35227	p.Arg6Trp	rs749819496	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541174G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg6Gln	rs779496705	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541173C>T	ExAC,gnomAD
PCGF2	P35227	p.Thr10Arg	rs1251160108	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541161G>C	gnomAD
PCGF2	P35227	p.Pro14Thr	rs780765988	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541150G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Ile	rs757069949	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541144G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Phe	rs757069949	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541144G>A	ExAC,gnomAD
PCGF2	P35227	p.Met17Ile	rs751245494	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541139C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala19Pro	rs777722903	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541135C>G	ExAC,gnomAD
PCGF2	P35227	p.Leu20Ile	rs1335630874	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541132G>T	gnomAD
PCGF2	P35227	p.Gly22Arg	rs752723799	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541126C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly22Trp	rs752723799	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541126C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly23Glu	rs1388718872	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541122C>T	gnomAD
PCGF2	P35227	p.Asp27Asn	rs1420332509	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541111C>T	gnomAD
PCGF2	P35227	p.Ala28Thr	rs968126661	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541108C>T	gnomAD
PCGF2	P35227	p.Thr29Ile	rs767571747	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541104G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ile31Met	rs774651597	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541097G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val32Met	rs140843241	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541096C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe38Leu	rs1352006959	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541078A>G	TOPMed
PCGF2	P35227	p.Thr41Ala	rs770516158	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540461T>C	ExAC,gnomAD
PCGF2	P35227	p.Val44Met	rs1412561472	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540452C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg45His	rs145569563	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540448C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg45Cys	rs147291159	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540449G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu48Asp	rs778786385	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540438C>A	ExAC,gnomAD
PCGF2	P35227	p.Asn50Ser	rs369222947	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540433T>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn50Lys	rs750977866	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540432G>C	gnomAD
PCGF2	P35227	p.Tyr52His	rs749282221	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540428A>G	ExAC,gnomAD
PCGF2	P35227	p.Asp57Glu	rs781097488	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540411G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Glu	rs764363872	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540409A>T	ExAC,gnomAD
PCGF2	P35227	p.Val58Gly	rs764363872	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540409A>C	ExAC,gnomAD
PCGF2	P35227	p.Val58Met	rs376422988	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540410C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln59Pro	rs758623811	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540406T>G	ExAC,gnomAD
PCGF2	P35227	p.Thr63Ile	rs753001499	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540394G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Trp	rs765654378	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540392G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Gln	rs1270907226	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540391C>T	gnomAD
PCGF2	P35227	p.Pro65Ser	RCV000766185	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739602G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	RCV000766184	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	RCV000758165	missense variant	-	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Ser	VAR_082086	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Pro65Leu	VAR_082085	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Leu66Gln	rs1407101094	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540385A>T	TOPMed
PCGF2	P35227	p.Ser68Asn	rs765795827	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540379C>T	ExAC,gnomAD
PCGF2	P35227	p.Ile69Val	rs760327885	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540377T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser71Phe	rs1461367779	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540038G>A	TOPMed
PCGF2	P35227	p.Lys73Glu	rs371103302	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540033T>C	ESP,TOPMed
PCGF2	P35227	p.Lys73Arg	rs754174211	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540032T>C	ExAC,gnomAD
PCGF2	P35227	p.Leu82Phe	rs780591825	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540004C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp89Asn	rs756653107	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539985C>T	ExAC,gnomAD
PCGF2	P35227	p.Met91Val	rs1195772306	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539900T>C	TOPMed,gnomAD
PCGF2	P35227	p.Arg93Trp	rs768877758	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539894G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg93Leu	rs1259877550	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539893C>A	gnomAD
PCGF2	P35227	p.Arg94Trp	rs749508532	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539891G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg94Gln	rs780536842	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539890C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg95Gln	rs746360625	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539887C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg95Trp	rs200480241	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539888G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe97Leu	rs757705562	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539880G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala99Gly	rs1412330889	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539875G>C	TOPMed
PCGF2	P35227	p.Ala100Val	rs763533799	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539872G>A	ExAC,gnomAD
PCGF2	P35227	p.Tyr101Cys	rs1011253528	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539869T>C	TOPMed
PCGF2	P35227	p.Pro102Ser	rs764992830	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539867G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr104Met	rs759394608	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539860G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Arg	rs777012498	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539640C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Ser	rs777012498	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539640C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Asp	rs771238828	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539639C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Val	rs771238828	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539639C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser110Tyr	rs1163873738	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539636G>T	gnomAD
PCGF2	P35227	p.Asn111Ile	rs201412419	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539633T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn111Lys	rs1320317505	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539632A>T	TOPMed
PCGF2	P35227	p.Asn111Ser	rs201412419	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539633T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp113Glu	rs1370117279	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539626G>T	gnomAD
PCGF2	P35227	p.Arg114Leu	rs554363495	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539624C>A	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg114His	rs554363495	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539624C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg114Cys	rs778201270	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539625G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly115Asp	rs754586944	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539621C>T	ExAC,gnomAD
PCGF2	P35227	p.Gly115Ser	rs778419447	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539622C>T	ExAC,gnomAD
PCGF2	P35227	p.Glu116Lys	rs779878626	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539619C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln120Glu	rs958236122	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539607G>C	TOPMed,gnomAD
PCGF2	P35227	p.Lys122Asn	rs1369036219	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539599C>G	gnomAD
PCGF2	P35227	p.Ala124Thr	rs1034297638	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539595C>T	TOPMed,gnomAD
PCGF2	P35227	p.Ala124Val	rs1411468690	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539594G>A	TOPMed
PCGF2	P35227	p.Ser126Asn	rs377546846	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539588C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp128Glu	rs761851035	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539581A>T	ExAC,gnomAD
PCGF2	P35227	p.Glu129Val	rs752773081	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539579T>A	ExAC,gnomAD
PCGF2	P35227	p.Ile130Thr	rs765435276	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539576A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu136Asp	rs1251984310	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539557T>G	gnomAD
PCGF2	P35227	p.Glu136Gly	rs1296507529	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539558T>C	TOPMed
PCGF2	P35227	p.Glu136Lys	rs373487471	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539559C>T	1000Genomes,ESP,ExAC,gnomAD
PCGF2	P35227	p.Glu139Lys	rs201164684	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539550C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly140Asp	rs1351561671	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539546C>T	gnomAD
PCGF2	P35227	p.Ala141Thr	rs772521169	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539544C>T	ExAC
PCGF2	P35227	p.Arg142Ser	rs1311059696	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539382C>A	TOPMed
PCGF2	P35227	p.Asp143Val	rs1347323535	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539380T>A	gnomAD
PCGF2	P35227	p.Arg144Trp	rs199504647	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539378G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gln	rs773410790	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539377C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Leu	rs773410790	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539377C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gly	rs199504647	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539378G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp145His	rs1443579650	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539375C>G	TOPMed
PCGF2	P35227	p.Glu146Lys	rs1412816395	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539372C>T	gnomAD
PCGF2	P35227	p.Lys147Asn	rs774898974	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539367C>G	ExAC,gnomAD
PCGF2	P35227	p.Lys147Gln	rs1237441991	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539369T>G	TOPMed
PCGF2	P35227	p.Lys147Thr	rs1374779710	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539368T>G	gnomAD
PCGF2	P35227	p.Gly149Arg	rs1416945236	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539363C>G	gnomAD
PCGF2	P35227	p.Pro150Ser	rs1167009859	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539360G>A	gnomAD
PCGF2	P35227	p.Leu151Pro	rs748683854	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539356A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu152Lys	rs775075296	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539354C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp157Glu	rs142427824	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539337G>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly162Arg	rs745485150	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539232C>G	ExAC,gnomAD
PCGF2	P35227	p.Val163Met	rs776481995	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539229C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg164Cys	rs1378038012	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539226G>A	TOPMed
PCGF2	P35227	p.Arg164His	rs1027436811	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539225C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg167Ter	rs368479811	stop gained	-	CHR_HSCHR17_7_CTG4:g.38539217G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg167Gln	rs746734324	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539216C>T	ExAC,gnomAD
PCGF2	P35227	p.Ala170Pro	rs777733534	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539208C>G	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Val	rs758229006	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539202T>C	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val174Ile	rs756277723	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539196C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His176Leu	rs750641343	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539189T>A	ExAC,gnomAD
PCGF2	P35227	p.His176Arg	rs750641343	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539189T>C	ExAC,gnomAD
PCGF2	P35227	p.Lys179Thr	rs757487665	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539180T>G	ExAC,gnomAD
PCGF2	P35227	p.Arg182His	rs764470222	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539171C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg182Cys	rs560971855	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539172G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp186Glu	rs145409234	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539158A>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu194Lys	rs1465655394	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536954C>T	gnomAD
PCGF2	P35227	p.Val195Ile	rs773058381	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536951C>T	ExAC,gnomAD
PCGF2	P35227	p.Val195Phe	rs773058381	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536951C>A	ExAC,gnomAD
PCGF2	P35227	p.Glu198Asp	rs768593615	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536940C>G	ExAC,gnomAD
PCGF2	P35227	p.Glu198Gly	rs774034080	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536941T>C	ExAC,gnomAD
PCGF2	P35227	p.Glu198Lys	rs568535028	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536942C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536937G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Gly	rs749250708	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536938T>C	ExAC,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536937G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu200Lys	rs747215640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536936C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ala	rs1201949138	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536933G>C	TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ser	rs1201949138	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536933G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr207Ala	rs1260959083	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536915T>C	TOPMed
PCGF2	P35227	p.Met209Val	rs1292047416	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536909T>C	TOPMed,gnomAD
PCGF2	P35227	p.Ile211Val	rs1238145871	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536903T>C	TOPMed
PCGF2	P35227	p.Ala212Thr	rs1304683105	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536900C>T	gnomAD
PCGF2	P35227	p.Ala212Val	rs1446850294	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536899G>A	TOPMed,gnomAD
PCGF2	P35227	p.Ile214Val	rs1460622087	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536894T>C	gnomAD
PCGF2	P35227	p.Trp217Ter	rs1171109186	stop gained	-	CHR_HSCHR17_7_CTG4:g.38536883C>T	gnomAD
PCGF2	P35227	p.Arg218Trp	rs753047733	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536882G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg218Gln	rs774439646	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536881C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg219Gln	rs755511901	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536878C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg219Leu	rs755511901	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536878C>A	ExAC,gnomAD
PCGF2	P35227	p.Arg219Trp	rs1186813888	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536879G>A	gnomAD
PCGF2	P35227	p.Asn220Ser	rs773177453	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536386T>C	ExAC,gnomAD
PCGF2	P35227	p.Asn220Tyr	rs202151124	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536387T>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly221Arg	rs748359148	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536384C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro224Leu	rs1242535395	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536374G>A	gnomAD
PCGF2	P35227	p.Leu225Phe	rs1322585642	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536372G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu225Ile	rs1322585642	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536372G>T	TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Cys	rs779314891	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536365T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Phe	rs779314891	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536365T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228Cys	rs370844202	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536363G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228His	rs201691898	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536362C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg228Gly	rs370844202	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536363G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln230Ter	rs1380321881	stop gained	-	CHR_HSCHR17_7_CTG4:g.38536357G>A	gnomAD
PCGF2	P35227	p.Pro231Ser	rs1452114686	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536354G>A	gnomAD
PCGF2	P35227	p.Ala232Gly	rs749903360	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536350G>C	ExAC,gnomAD
PCGF2	P35227	p.Cys233Tyr	rs756899659	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536347C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Trp	rs200143494	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536342G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Gln	rs535420083	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536341C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Leu	rs535420083	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536341C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu236Phe	rs189346950	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536339G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr237Ile	rs925022214	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536335G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu238Gln	rs368317834	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536332A>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala239Thr	rs540892196	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536330C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Thr240Met	rs759490790	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536326G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val241Met	rs372019431	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536324C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro242Ser	rs772093442	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536321G>A	ExAC
PCGF2	P35227	p.Pro242Leu	rs748390616	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536320G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr243Ser	rs1401012738	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536318T>A	gnomAD
PCGF2	P35227	p.Thr243Ile	rs1172849279	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536317G>A	gnomAD
PCGF2	P35227	p.Pro244Leu	rs1379690664	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536314G>A	gnomAD
PCGF2	P35227	p.Pro244Ser	rs1478818214	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536315G>A	gnomAD
PCGF2	P35227	p.Glu246Lys	rs991646402	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536309C>T	TOPMed,gnomAD
PCGF2	P35227	p.Glu246Gln	rs991646402	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536309C>G	TOPMed,gnomAD
PCGF2	P35227	p.Glu246Val	rs769007309	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536308T>A	ExAC
PCGF2	P35227	p.Thr248Asn	rs1489930211	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536302G>T	gnomAD
PCGF2	P35227	p.Ser251Asn	rs1218889139	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536293C>T	gnomAD
PCGF2	P35227	p.Gly252Trp	rs114574378	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536291C>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly252Arg	rs114574378	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536291C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala253Val	rs1347439391	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536287G>A	gnomAD
PCGF2	P35227	p.Ala253Thr	rs1201204610	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536288C>T	gnomAD
PCGF2	P35227	p.Glu255Lys	rs780727729	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536282C>T	ExAC,gnomAD
PCGF2	P35227	p.Cys256Tyr	rs1280061078	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536278C>T	gnomAD
PCGF2	P35227	p.Glu257Val	rs1368701098	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536275T>A	TOPMed
PCGF2	P35227	p.Ser260Gly	rs1445142388	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536267T>C	gnomAD
PCGF2	P35227	p.Asp261Asn	rs751218338	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536264C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro266Ser	rs1168961421	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536249G>A	gnomAD
PCGF2	P35227	p.Thr268Ile	rs1228477563	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536242G>A	TOPMed
PCGF2	P35227	p.Pro270Leu	rs1196536292	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536236G>A	gnomAD
PCGF2	P35227	p.Ala271Thr	rs1319854450	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536234C>T	TOPMed
PCGF2	P35227	p.Leu276Val	rs752439412	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536219G>C	ExAC,gnomAD
PCGF2	P35227	p.Ser278Arg	rs1256466420	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536211G>T	gnomAD
PCGF2	P35227	p.Ser278Cys	rs1293516092	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536213T>A	gnomAD
PCGF2	P35227	p.Ser278Thr	rs1265832095	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536212C>G	TOPMed
PCGF2	P35227	p.Ala280Val	rs765047753	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536206G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr281Pro	rs759495717	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536204T>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr281Asn	rs1246419795	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536203G>T	TOPMed
PCGF2	P35227	p.Pro287Ala	rs953468425	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536186G>C	TOPMed,gnomAD
PCGF2	P35227	p.Pro287Leu	rs767632359	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536185G>A	ExAC,gnomAD
PCGF2	P35227	p.Ser288Thr	rs761734103	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536182C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser288Asn	rs761734103	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536182C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser289Phe	rs1173316640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536179G>A	TOPMed,gnomAD
PCGF2	P35227	p.His290Gln	rs774589549	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536175A>T	ExAC,gnomAD
PCGF2	P35227	p.Pro292Ser	rs1413723500	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536171G>A	gnomAD
PCGF2	P35227	p.Thr295Ser	rs1163898126	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536162T>A	gnomAD
PCGF2	P35227	p.Thr295Asn	rs768954307	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536161G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His296Tyr	rs1236556702	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536159G>A	gnomAD
PCGF2	P35227	p.His296Gln	rs763301851	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536157G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro297Thr	rs1003229373	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536156G>T	TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ala	rs775970031	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536153T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ser	rs775970031	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536153T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser299Cys	rs1376280131	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536149G>C	TOPMed
PCGF2	P35227	p.Pro300Leu	rs1450948881	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536146G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro300Ala	rs1219123976	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536147G>C	gnomAD
PCGF2	P35227	p.Thr301Pro	rs1269726642	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536144T>G	TOPMed
PCGF2	P35227	p.Pro303Leu	rs1350932686	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536137G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro303Ser	rs746369251	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536138G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro303Ala	rs746369251	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536138G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser304Leu	rs1307931350	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536134G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr305Ala	rs1188153848	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536132T>C	TOPMed
PCGF2	P35227	p.Thr305Pro	rs1188153848	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536132T>G	TOPMed
PCGF2	P35227	p.Ser307Gly	rs781613328	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536126T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser307Arg	rs1434836110	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536124A>C	gnomAD
PCGF2	P35227	p.Gly308Arg	rs1349805834	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536123C>T	gnomAD
PCGF2	P35227	p.Gly308Glu	rs1324828600	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536122C>T	gnomAD
PCGF2	P35227	p.Thr310Ala	rs1378510208	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536117T>C	gnomAD
PCGF2	P35227	p.Thr311Arg	rs1440488481	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536113G>C	gnomAD
PCGF2	P35227	p.Thr311Ile	rs1440488481	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536113G>A	gnomAD
PCGF2	P35227	p.Ala312Asp	rs1189241824	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536110G>T	gnomAD
PCGF2	P35227	p.Ala313Val	rs143182107	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536107G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala313Asp	rs143182107	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536107G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly315Val	rs1049689204	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>A	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Ala	rs1049689204	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>G	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Glu	rs1049689204	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>T	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Arg	rs746445618	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536102C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly316Ser	rs372971271	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536099C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser317Cys	rs1298823443	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536096T>A	gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536091C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536091C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser325Phe	rs1303419555	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536071G>A	TOPMed
PCGF2	P35227	p.Ser326Pro	rs1367282284	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536069A>G	gnomAD
PCGF2	P35227	p.Ser326Phe	rs1275843223	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536068G>A	gnomAD
PCGF2	P35227	p.Arg331His	rs778666838	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536053C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Lys332Glu	rs1297640476	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536051T>C	gnomAD
PCGF2	P35227	p.Val335Ala	rs1174278285	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536041A>G	gnomAD
PCGF2	P35227	p.Val335Ile	rs1310575120	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536042C>T	TOPMed
PCGF2	P35227	p.Gly337Ser	rs1201324546	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536036C>T	gnomAD
PCGF2	P35227	p.Ala338Thr	rs972720076	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536033C>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro339Leu	rs760680898	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536029G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Leu	rs764305411	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536027C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Met	rs764305411	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536027C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro341Thr	rs1208938665	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536024G>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro341Ser	rs1208938665	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536024G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro342His	rs770193210	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Arg	rs770193210	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Thr	rs775916672	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536021G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Leu	rs770193210	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Ala	rs775916672	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536021G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ter345Unk	rs1400663223	stop lost	-	CHR_HSCHR17_7_CTG4:g.38536011del	gnomAD
PCGF2	P35227	p.His2Pro	rs1164566149	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541185T>G	TOPMed,gnomAD
PCGF2	P35227	p.Arg3Leu	rs774706646	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541182C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg3Gln	rs774706646	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541182C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg6Trp	rs749819496	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541174G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg6Gly	rs749819496	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541174G>C	ExAC,gnomAD
PCGF2	P35227	p.Arg6Gln	rs779496705	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541173C>T	ExAC,gnomAD
PCGF2	P35227	p.Thr10Arg	rs1251160108	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541161G>C	gnomAD
PCGF2	P35227	p.Pro14Thr	rs780765988	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541150G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Ile	rs757069949	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541144G>T	ExAC,gnomAD
PCGF2	P35227	p.Leu16Phe	rs757069949	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541144G>A	ExAC,gnomAD
PCGF2	P35227	p.Met17Ile	rs751245494	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541139C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala19Pro	rs777722903	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541135C>G	ExAC,gnomAD
PCGF2	P35227	p.Leu20Ile	rs1335630874	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541132G>T	gnomAD
PCGF2	P35227	p.Gly22Trp	rs752723799	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541126C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly22Arg	rs752723799	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541126C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly23Glu	rs1388718872	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541122C>T	gnomAD
PCGF2	P35227	p.Asp27Asn	rs1420332509	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541111C>T	gnomAD
PCGF2	P35227	p.Ala28Thr	rs968126661	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541108C>T	gnomAD
PCGF2	P35227	p.Thr29Ile	rs767571747	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541104G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ile31Met	rs774651597	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541097G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val32Met	rs140843241	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541096C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe38Leu	rs1352006959	missense variant	-	CHR_HSCHR17_7_CTG4:g.38541078A>G	TOPMed
PCGF2	P35227	p.Thr41Ala	rs770516158	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540461T>C	ExAC,gnomAD
PCGF2	P35227	p.Val44Met	rs1412561472	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540452C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg45Cys	rs147291159	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540449G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg45His	rs145569563	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540448C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu48Asp	rs778786385	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540438C>A	ExAC,gnomAD
PCGF2	P35227	p.Asn50Ser	rs369222947	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540433T>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn50Lys	rs750977866	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540432G>C	gnomAD
PCGF2	P35227	p.Tyr52His	rs749282221	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540428A>G	ExAC,gnomAD
PCGF2	P35227	p.Asp57Glu	rs781097488	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540411G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val58Glu	rs764363872	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540409A>T	ExAC,gnomAD
PCGF2	P35227	p.Val58Gly	rs764363872	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540409A>C	ExAC,gnomAD
PCGF2	P35227	p.Val58Met	rs376422988	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540410C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln59Pro	rs758623811	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540406T>G	ExAC,gnomAD
PCGF2	P35227	p.Thr63Ile	rs753001499	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540394G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Trp	rs765654378	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540392G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg64Gln	rs1270907226	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540391C>T	gnomAD
PCGF2	P35227	p.Pro65Leu	RCV000758165	missense variant	-	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Leu	RCV000766184	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739601G>A	ClinVar
PCGF2	P35227	p.Pro65Ser	RCV000766185	missense variant	TURNPENNY-FRY SYNDROME (TPFS)	NC_000017.11:g.38739602G>A	ClinVar
PCGF2	P35227	p.Pro65Ser	VAR_082086	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Pro65Leu	VAR_082085	Missense	Turnpenny-Fry syndrome (TPFS) [MIM:618371]	-	UniProt
PCGF2	P35227	p.Leu66Gln	rs1407101094	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540385A>T	TOPMed
PCGF2	P35227	p.Ser68Asn	rs765795827	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540379C>T	ExAC,gnomAD
PCGF2	P35227	p.Ile69Val	rs760327885	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540377T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser71Phe	rs1461367779	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540038G>A	TOPMed
PCGF2	P35227	p.Lys73Arg	rs754174211	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540032T>C	ExAC,gnomAD
PCGF2	P35227	p.Lys73Glu	rs371103302	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540033T>C	ESP,TOPMed
PCGF2	P35227	p.Leu82Phe	rs780591825	missense variant	-	CHR_HSCHR17_7_CTG4:g.38540004C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp89Asn	rs756653107	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539985C>T	ExAC,gnomAD
PCGF2	P35227	p.Met91Val	rs1195772306	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539900T>C	TOPMed,gnomAD
PCGF2	P35227	p.Arg93Trp	rs768877758	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539894G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg93Leu	rs1259877550	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539893C>A	gnomAD
PCGF2	P35227	p.Arg94Trp	rs749508532	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539891G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg94Gln	rs780536842	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539890C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg95Gln	rs746360625	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539887C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg95Trp	rs200480241	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539888G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Phe97Leu	rs757705562	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539880G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala99Gly	rs1412330889	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539875G>C	TOPMed
PCGF2	P35227	p.Ala100Val	rs763533799	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539872G>A	ExAC,gnomAD
PCGF2	P35227	p.Tyr101Cys	rs1011253528	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539869T>C	TOPMed
PCGF2	P35227	p.Pro102Ser	rs764992830	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539867G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr104Met	rs759394608	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539860G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Asp	rs771238828	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539639C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Ser	rs777012498	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539640C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Arg	rs777012498	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539640C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly109Val	rs771238828	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539639C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser110Tyr	rs1163873738	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539636G>T	gnomAD
PCGF2	P35227	p.Asn111Lys	rs1320317505	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539632A>T	TOPMed
PCGF2	P35227	p.Asn111Ile	rs201412419	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539633T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asn111Ser	rs201412419	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539633T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp113Glu	rs1370117279	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539626G>T	gnomAD
PCGF2	P35227	p.Arg114His	rs554363495	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539624C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg114Leu	rs554363495	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539624C>A	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg114Cys	rs778201270	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539625G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly115Asp	rs754586944	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539621C>T	ExAC,gnomAD
PCGF2	P35227	p.Gly115Ser	rs778419447	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539622C>T	ExAC,gnomAD
PCGF2	P35227	p.Glu116Lys	rs779878626	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539619C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln120Glu	rs958236122	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539607G>C	TOPMed,gnomAD
PCGF2	P35227	p.Lys122Asn	rs1369036219	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539599C>G	gnomAD
PCGF2	P35227	p.Ala124Val	rs1411468690	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539594G>A	TOPMed
PCGF2	P35227	p.Ala124Thr	rs1034297638	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539595C>T	TOPMed,gnomAD
PCGF2	P35227	p.Ser126Asn	rs377546846	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539588C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp128Glu	rs761851035	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539581A>T	ExAC,gnomAD
PCGF2	P35227	p.Glu129Val	rs752773081	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539579T>A	ExAC,gnomAD
PCGF2	P35227	p.Ile130Thr	rs765435276	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539576A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu136Asp	rs1251984310	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539557T>G	gnomAD
PCGF2	P35227	p.Glu136Gly	rs1296507529	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539558T>C	TOPMed
PCGF2	P35227	p.Glu136Lys	rs373487471	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539559C>T	1000Genomes,ESP,ExAC,gnomAD
PCGF2	P35227	p.Glu139Lys	rs201164684	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539550C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly140Asp	rs1351561671	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539546C>T	gnomAD
PCGF2	P35227	p.Ala141Thr	rs772521169	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539544C>T	ExAC
PCGF2	P35227	p.Arg142Ser	rs1311059696	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539382C>A	TOPMed
PCGF2	P35227	p.Asp143Val	rs1347323535	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539380T>A	gnomAD
PCGF2	P35227	p.Arg144Leu	rs773410790	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539377C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gly	rs199504647	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539378G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Gln	rs773410790	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539377C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg144Trp	rs199504647	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539378G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp145His	rs1443579650	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539375C>G	TOPMed
PCGF2	P35227	p.Glu146Lys	rs1412816395	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539372C>T	gnomAD
PCGF2	P35227	p.Lys147Thr	rs1374779710	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539368T>G	gnomAD
PCGF2	P35227	p.Lys147Asn	rs774898974	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539367C>G	ExAC,gnomAD
PCGF2	P35227	p.Lys147Gln	rs1237441991	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539369T>G	TOPMed
PCGF2	P35227	p.Gly149Arg	rs1416945236	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539363C>G	gnomAD
PCGF2	P35227	p.Pro150Ser	rs1167009859	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539360G>A	gnomAD
PCGF2	P35227	p.Leu151Pro	rs748683854	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539356A>G	ExAC,gnomAD
PCGF2	P35227	p.Glu152Lys	rs775075296	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539354C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp157Glu	rs142427824	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539337G>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly162Arg	rs745485150	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539232C>G	ExAC,gnomAD
PCGF2	P35227	p.Val163Met	rs776481995	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539229C>T	ExAC,gnomAD
PCGF2	P35227	p.Arg164His	rs1027436811	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539225C>T	TOPMed,gnomAD
PCGF2	P35227	p.Arg164Cys	rs1378038012	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539226G>A	TOPMed
PCGF2	P35227	p.Arg167Ter	rs368479811	stop gained	-	CHR_HSCHR17_7_CTG4:g.38539217G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg167Gln	rs746734324	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539216C>T	ExAC,gnomAD
PCGF2	P35227	p.Ala170Pro	rs777733534	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539208C>G	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Met172Val	rs758229006	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539202T>C	ExAC,gnomAD
PCGF2	P35227	p.Met172Ile	rs748159640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539200C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val174Ile	rs756277723	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539196C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His176Leu	rs750641343	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539189T>A	ExAC,gnomAD
PCGF2	P35227	p.His176Arg	rs750641343	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539189T>C	ExAC,gnomAD
PCGF2	P35227	p.Lys179Thr	rs757487665	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539180T>G	ExAC,gnomAD
PCGF2	P35227	p.Arg182His	rs764470222	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539171C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg182Cys	rs560971855	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539172G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp186Glu	rs145409234	missense variant	-	CHR_HSCHR17_7_CTG4:g.38539158A>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu194Lys	rs1465655394	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536954C>T	gnomAD
PCGF2	P35227	p.Val195Ile	rs773058381	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536951C>T	ExAC,gnomAD
PCGF2	P35227	p.Val195Phe	rs773058381	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536951C>A	ExAC,gnomAD
PCGF2	P35227	p.Glu198Asp	rs768593615	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536940C>G	ExAC,gnomAD
PCGF2	P35227	p.Glu198Gly	rs774034080	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536941T>C	ExAC,gnomAD
PCGF2	P35227	p.Glu198Lys	rs568535028	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536942C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536937G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Asp199Gly	rs749250708	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536938T>C	ExAC,gnomAD
PCGF2	P35227	p.Asp199Glu	rs200403711	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536937G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Glu200Lys	rs747215640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536936C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ser	rs1201949138	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536933G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro201Ala	rs1201949138	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536933G>C	TOPMed,gnomAD
PCGF2	P35227	p.Thr207Ala	rs1260959083	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536915T>C	TOPMed
PCGF2	P35227	p.Met209Val	rs1292047416	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536909T>C	TOPMed,gnomAD
PCGF2	P35227	p.Ile211Val	rs1238145871	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536903T>C	TOPMed
PCGF2	P35227	p.Ala212Thr	rs1304683105	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536900C>T	gnomAD
PCGF2	P35227	p.Ala212Val	rs1446850294	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536899G>A	TOPMed,gnomAD
PCGF2	P35227	p.Ile214Val	rs1460622087	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536894T>C	gnomAD
PCGF2	P35227	p.Trp217Ter	rs1171109186	stop gained	-	CHR_HSCHR17_7_CTG4:g.38536883C>T	gnomAD
PCGF2	P35227	p.Arg218Trp	rs753047733	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536882G>A	ExAC,gnomAD
PCGF2	P35227	p.Arg218Gln	rs774439646	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536881C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg219Leu	rs755511901	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536878C>A	ExAC,gnomAD
PCGF2	P35227	p.Arg219Trp	rs1186813888	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536879G>A	gnomAD
PCGF2	P35227	p.Arg219Gln	rs755511901	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536878C>T	ExAC,gnomAD
PCGF2	P35227	p.Asn220Ser	rs773177453	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536386T>C	ExAC,gnomAD
PCGF2	P35227	p.Asn220Tyr	rs202151124	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536387T>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly221Arg	rs748359148	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536384C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro224Leu	rs1242535395	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536374G>A	gnomAD
PCGF2	P35227	p.Leu225Phe	rs1322585642	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536372G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu225Ile	rs1322585642	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536372G>T	TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Phe	rs779314891	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536365T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Tyr227Cys	rs779314891	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536365T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228Cys	rs370844202	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536363G>A	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg228His	rs201691898	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536362C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Arg228Gly	rs370844202	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536363G>C	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gln230Ter	rs1380321881	stop gained	-	CHR_HSCHR17_7_CTG4:g.38536357G>A	gnomAD
PCGF2	P35227	p.Pro231Ser	rs1452114686	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536354G>A	gnomAD
PCGF2	P35227	p.Ala232Gly	rs749903360	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536350G>C	ExAC,gnomAD
PCGF2	P35227	p.Cys233Tyr	rs756899659	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536347C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Trp	rs200143494	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536342G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Gln	rs535420083	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536341C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Arg235Leu	rs535420083	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536341C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu236Phe	rs189346950	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536339G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr237Ile	rs925022214	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536335G>A	TOPMed,gnomAD
PCGF2	P35227	p.Leu238Gln	rs368317834	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536332A>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala239Thr	rs540892196	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536330C>T	1000Genomes,ExAC,gnomAD
PCGF2	P35227	p.Thr240Met	rs759490790	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536326G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val241Met	rs372019431	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536324C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro242Ser	rs772093442	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536321G>A	ExAC
PCGF2	P35227	p.Pro242Leu	rs748390616	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536320G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr243Ser	rs1401012738	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536318T>A	gnomAD
PCGF2	P35227	p.Thr243Ile	rs1172849279	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536317G>A	gnomAD
PCGF2	P35227	p.Pro244Leu	rs1379690664	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536314G>A	gnomAD
PCGF2	P35227	p.Pro244Ser	rs1478818214	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536315G>A	gnomAD
PCGF2	P35227	p.Glu246Lys	rs991646402	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536309C>T	TOPMed,gnomAD
PCGF2	P35227	p.Glu246Gln	rs991646402	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536309C>G	TOPMed,gnomAD
PCGF2	P35227	p.Glu246Val	rs769007309	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536308T>A	ExAC
PCGF2	P35227	p.Thr248Asn	rs1489930211	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536302G>T	gnomAD
PCGF2	P35227	p.Ser251Asn	rs1218889139	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536293C>T	gnomAD
PCGF2	P35227	p.Gly252Trp	rs114574378	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536291C>A	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly252Arg	rs114574378	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536291C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala253Val	rs1347439391	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536287G>A	gnomAD
PCGF2	P35227	p.Ala253Thr	rs1201204610	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536288C>T	gnomAD
PCGF2	P35227	p.Glu255Lys	rs780727729	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536282C>T	ExAC,gnomAD
PCGF2	P35227	p.Cys256Tyr	rs1280061078	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536278C>T	gnomAD
PCGF2	P35227	p.Glu257Val	rs1368701098	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536275T>A	TOPMed
PCGF2	P35227	p.Ser260Gly	rs1445142388	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536267T>C	gnomAD
PCGF2	P35227	p.Asp261Asn	rs751218338	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536264C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro266Ser	rs1168961421	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536249G>A	gnomAD
PCGF2	P35227	p.Thr268Ile	rs1228477563	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536242G>A	TOPMed
PCGF2	P35227	p.Pro270Leu	rs1196536292	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536236G>A	gnomAD
PCGF2	P35227	p.Ala271Thr	rs1319854450	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536234C>T	TOPMed
PCGF2	P35227	p.Leu276Val	rs752439412	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536219G>C	ExAC,gnomAD
PCGF2	P35227	p.Ser278Cys	rs1293516092	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536213T>A	gnomAD
PCGF2	P35227	p.Ser278Arg	rs1256466420	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536211G>T	gnomAD
PCGF2	P35227	p.Ser278Thr	rs1265832095	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536212C>G	TOPMed
PCGF2	P35227	p.Ala280Val	rs765047753	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536206G>A	ExAC,gnomAD
PCGF2	P35227	p.Thr281Asn	rs1246419795	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536203G>T	TOPMed
PCGF2	P35227	p.Thr281Pro	rs759495717	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536204T>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro287Ala	rs953468425	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536186G>C	TOPMed,gnomAD
PCGF2	P35227	p.Pro287Leu	rs767632359	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536185G>A	ExAC,gnomAD
PCGF2	P35227	p.Ser288Thr	rs761734103	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536182C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser288Asn	rs761734103	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536182C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser289Phe	rs1173316640	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536179G>A	TOPMed,gnomAD
PCGF2	P35227	p.His290Gln	rs774589549	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536175A>T	ExAC,gnomAD
PCGF2	P35227	p.Pro292Ser	rs1413723500	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536171G>A	gnomAD
PCGF2	P35227	p.Thr295Ser	rs1163898126	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536162T>A	gnomAD
PCGF2	P35227	p.Thr295Asn	rs768954307	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536161G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.His296Tyr	rs1236556702	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536159G>A	gnomAD
PCGF2	P35227	p.His296Gln	rs763301851	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536157G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro297Thr	rs1003229373	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536156G>T	TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ala	rs775970031	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536153T>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Thr298Ser	rs775970031	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536153T>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser299Cys	rs1376280131	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536149G>C	TOPMed
PCGF2	P35227	p.Pro300Leu	rs1450948881	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536146G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro300Ala	rs1219123976	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536147G>C	gnomAD
PCGF2	P35227	p.Thr301Pro	rs1269726642	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536144T>G	TOPMed
PCGF2	P35227	p.Pro303Leu	rs1350932686	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536137G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro303Ser	rs746369251	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536138G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro303Ala	rs746369251	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536138G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser304Leu	rs1307931350	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536134G>A	TOPMed,gnomAD
PCGF2	P35227	p.Thr305Ala	rs1188153848	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536132T>C	TOPMed
PCGF2	P35227	p.Thr305Pro	rs1188153848	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536132T>G	TOPMed
PCGF2	P35227	p.Ser307Gly	rs781613328	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536126T>C	ExAC,gnomAD
PCGF2	P35227	p.Ser307Arg	rs1434836110	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536124A>C	gnomAD
PCGF2	P35227	p.Gly308Arg	rs1349805834	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536123C>T	gnomAD
PCGF2	P35227	p.Gly308Glu	rs1324828600	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536122C>T	gnomAD
PCGF2	P35227	p.Thr310Ala	rs1378510208	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536117T>C	gnomAD
PCGF2	P35227	p.Thr311Arg	rs1440488481	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536113G>C	gnomAD
PCGF2	P35227	p.Thr311Ile	rs1440488481	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536113G>A	gnomAD
PCGF2	P35227	p.Ala312Asp	rs1189241824	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536110G>T	gnomAD
PCGF2	P35227	p.Ala313Val	rs143182107	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536107G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ala313Asp	rs143182107	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536107G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly315Arg	rs746445618	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536102C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Gly315Val	rs1049689204	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>A	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Ala	rs1049689204	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>G	TOPMed,gnomAD
PCGF2	P35227	p.Gly315Glu	rs1049689204	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536101C>T	TOPMed,gnomAD
PCGF2	P35227	p.Gly316Ser	rs372971271	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536099C>T	ESP,ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser317Cys	rs1298823443	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536096T>A	gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536091C>G	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Leu318Phe	rs752386425	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536091C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ser325Phe	rs1303419555	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536071G>A	TOPMed
PCGF2	P35227	p.Ser326Pro	rs1367282284	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536069A>G	gnomAD
PCGF2	P35227	p.Ser326Phe	rs1275843223	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536068G>A	gnomAD
PCGF2	P35227	p.Arg331His	rs778666838	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536053C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Lys332Glu	rs1297640476	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536051T>C	gnomAD
PCGF2	P35227	p.Val335Ala	rs1174278285	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536041A>G	gnomAD
PCGF2	P35227	p.Val335Ile	rs1310575120	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536042C>T	TOPMed
PCGF2	P35227	p.Gly337Ser	rs1201324546	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536036C>T	gnomAD
PCGF2	P35227	p.Ala338Thr	rs972720076	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536033C>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro339Leu	rs760680898	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536029G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Leu	rs764305411	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536027C>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Val340Met	rs764305411	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536027C>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro341Thr	rs1208938665	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536024G>T	TOPMed,gnomAD
PCGF2	P35227	p.Pro341Ser	rs1208938665	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536024G>A	TOPMed,gnomAD
PCGF2	P35227	p.Pro342His	rs770193210	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Thr	rs775916672	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536021G>T	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Arg	rs770193210	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Leu	rs770193210	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536020G>A	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Pro342Ala	rs775916672	missense variant	-	CHR_HSCHR17_7_CTG4:g.38536021G>C	ExAC,TOPMed,gnomAD
PCGF2	P35227	p.Ter345Unk	rs1400663223	stop lost	-	CHR_HSCHR17_7_CTG4:g.38536011del	gnomAD
RFC1	P35251	p.Arg4Trp	rs768465738	missense variant	-	NC_000004.12:g.39351470G>A	ExAC,gnomAD
RFC1	P35251	p.Arg4Gln	rs190369900	missense variant	-	NC_000004.12:g.39351469C>T	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.Gly8Glu	rs1390785482	missense variant	-	NC_000004.12:g.39351457C>T	gnomAD
RFC1	P35251	p.Ile10Val	rs1205443032	missense variant	-	NC_000004.12:g.39351452T>C	TOPMed
RFC1	P35251	p.Ser12Gly	rs1190401351	missense variant	-	NC_000004.12:g.39351446T>C	TOPMed,gnomAD
RFC1	P35251	p.Gly13Arg	rs757307308	missense variant	-	NC_000004.12:g.39351443C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Leu16Val	rs1182085253	missense variant	-	NC_000004.12:g.39351434G>C	TOPMed
RFC1	P35251	p.Ser18Asn	rs61759896	missense variant	-	NC_000004.12:g.39351427C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Glu19Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39351425C>G	NCI-TCGA
RFC1	P35251	p.Thr20Lys	rs753085990	missense variant	-	NC_000004.12:g.39351421G>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr20Ile	rs753085990	missense variant	-	NC_000004.12:g.39351421G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asn24Ser	rs753463107	missense variant	-	NC_000004.12:g.39351409T>C	ExAC,gnomAD
RFC1	P35251	p.Glu25Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39351405C>A	NCI-TCGA
RFC1	P35251	p.Lys26Arg	rs1277443149	missense variant	-	NC_000004.12:g.39351403T>C	gnomAD
RFC1	P35251	p.Thr27Ile	rs1232681406	missense variant	-	NC_000004.12:g.39351400G>A	TOPMed,gnomAD
RFC1	P35251	p.Thr27Arg	rs1232681406	missense variant	-	NC_000004.12:g.39351400G>C	TOPMed,gnomAD
RFC1	P35251	p.Lys28Met	rs765960748	missense variant	-	NC_000004.12:g.39351397T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr33Ser	COSM1055243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39351382G>C	NCI-TCGA Cosmic
RFC1	P35251	p.Lys35Gln	COSM1055242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39351377T>G	NCI-TCGA Cosmic
RFC1	P35251	p.Ala36Glu	rs945708128	missense variant	-	NC_000004.12:g.39351373G>T	TOPMed
RFC1	P35251	p.Ala36Gly	rs945708128	missense variant	-	NC_000004.12:g.39351373G>C	TOPMed
RFC1	P35251	p.Ala36Thr	rs1307655865	missense variant	-	NC_000004.12:g.39351374C>T	TOPMed,gnomAD
RFC1	P35251	p.Lys37Asn	COSM5119321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39351369C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Lys37Glu	rs772638183	missense variant	-	NC_000004.12:g.39351371T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys38Asn	rs1372463082	missense variant	-	NC_000004.12:g.39351366T>G	gnomAD
RFC1	P35251	p.Gly39Ala	rs771976617	missense variant	-	NC_000004.12:g.39351364C>G	ExAC,gnomAD
RFC1	P35251	p.Glu42Lys	rs1424206286	missense variant	-	NC_000004.12:g.39351356C>T	TOPMed,gnomAD
RFC1	P35251	p.Ile43Met	rs761691796	missense variant	-	NC_000004.12:g.39351351G>C	ExAC,gnomAD
RFC1	P35251	p.Lys44Arg	rs1225289731	missense variant	-	NC_000004.12:g.39351349T>C	TOPMed
RFC1	P35251	p.Val45Ile	rs774220730	missense variant	-	NC_000004.12:g.39345476C>T	ExAC,gnomAD
RFC1	P35251	p.Asn46Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39345473T>C	NCI-TCGA
RFC1	P35251	p.Ser47Gly	rs951097556	missense variant	-	NC_000004.12:g.39345470T>C	TOPMed,gnomAD
RFC1	P35251	p.Ser48Phe	rs201314036	missense variant	-	NC_000004.12:g.39345466G>A	1000Genomes,TOPMed
RFC1	P35251	p.Arg49Leu	rs762801694	missense variant	-	NC_000004.12:g.39345463C>A	ExAC,gnomAD
RFC1	P35251	p.Arg49Cys	rs1025507219	missense variant	-	NC_000004.12:g.39345464G>A	TOPMed,gnomAD
RFC1	P35251	p.Arg49His	rs762801694	missense variant	-	NC_000004.12:g.39345463C>T	ExAC,gnomAD
RFC1	P35251	p.Asp52Asn	rs1463843267	missense variant	-	NC_000004.12:g.39345455C>T	gnomAD
RFC1	P35251	p.Phe54Val	rs1267849876	missense variant	-	NC_000004.12:g.39345449A>C	TOPMed,gnomAD
RFC1	P35251	p.Lys55Asn	rs1209600239	missense variant	-	NC_000004.12:g.39345444T>A	TOPMed,gnomAD
RFC1	P35251	p.Gln56Ter	rs775184201	stop gained	-	NC_000004.12:g.39345443G>A	ExAC,gnomAD
RFC1	P35251	p.Lys57Asn	rs200203404	missense variant	-	NC_000004.12:g.39345438C>G	TOPMed
RFC1	P35251	p.Pro59Ser	rs747148742	missense variant	-	NC_000004.12:g.39345434G>A	ExAC,gnomAD
RFC1	P35251	p.Pro59Leu	rs1379947730	missense variant	-	NC_000004.12:g.39345433G>A	gnomAD
RFC1	P35251	p.Ser60Asn	rs773598218	missense variant	-	NC_000004.12:g.39345430C>T	ExAC,gnomAD
RFC1	P35251	p.Lys61Arg	rs779548462	missense variant	-	NC_000004.12:g.39345427T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys61Gln	rs748251247	missense variant	-	NC_000004.12:g.39345428T>G	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys61Glu	rs748251247	missense variant	-	NC_000004.12:g.39345428T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg64Ser	rs560959580	missense variant	-	NC_000004.12:g.39345417C>A	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.Ile66Met	rs1319253803	missense variant	-	NC_000004.12:g.39345411G>C	TOPMed
RFC1	P35251	p.Tyr67Cys	rs749643454	missense variant	-	NC_000004.12:g.39345409T>C	ExAC,gnomAD
RFC1	P35251	p.Asp68Tyr	rs1404298637	missense variant	-	NC_000004.12:g.39345407C>A	gnomAD
RFC1	P35251	p.Asp68His	rs1404298637	missense variant	-	NC_000004.12:g.39345407C>G	gnomAD
RFC1	P35251	p.Ser69Leu	rs1328381611	missense variant	-	NC_000004.12:g.39345403G>A	TOPMed
RFC1	P35251	p.Asp70Glu	rs1483758535	missense variant	-	NC_000004.12:g.39342466A>C	TOPMed
RFC1	P35251	p.Ser71Leu	rs1169747277	missense variant	-	NC_000004.12:g.39342464G>A	gnomAD
RFC1	P35251	p.Ser73Thr	rs148989502	missense variant	-	NC_000004.12:g.39342459A>T	ESP,ExAC,gnomAD
RFC1	P35251	p.Ser73Pro	rs148989502	missense variant	-	NC_000004.12:g.39342459A>G	ESP,ExAC,gnomAD
RFC1	P35251	p.Thr76Ala	rs1265647504	missense variant	-	NC_000004.12:g.39342450T>C	gnomAD
RFC1	P35251	p.Thr76Met	rs1190859841	missense variant	-	NC_000004.12:g.39342449G>A	gnomAD
RFC1	P35251	p.Gln78Pro	rs1248660560	missense variant	-	NC_000004.12:g.39342443T>G	gnomAD
RFC1	P35251	p.Gln78Arg	rs1248660560	missense variant	-	NC_000004.12:g.39342443T>C	gnomAD
RFC1	P35251	p.Val79Ala	rs749719474	missense variant	-	NC_000004.12:g.39342440A>G	ExAC,gnomAD
RFC1	P35251	p.Asn81MetPheSerTerUnkUnk	COSM295355	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39342434T>-	NCI-TCGA Cosmic
RFC1	P35251	p.Asn81LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39342433_39342434insT	NCI-TCGA
RFC1	P35251	p.Lys83Gln	rs1273897241	missense variant	-	NC_000004.12:g.39342429T>G	gnomAD
RFC1	P35251	p.Lys84Asn	rs1228995587	missense variant	-	NC_000004.12:g.39342424C>G	gnomAD
RFC1	P35251	p.Pro85Ser	rs780617627	missense variant	-	NC_000004.12:g.39342423G>A	ExAC,gnomAD
RFC1	P35251	p.Pro85Leu	rs1403274318	missense variant	-	NC_000004.12:g.39342422G>A	TOPMed,gnomAD
RFC1	P35251	p.Pro85Gln	rs1403274318	missense variant	-	NC_000004.12:g.39342422G>T	TOPMed,gnomAD
RFC1	P35251	p.Pro86Leu	rs1406608268	missense variant	-	NC_000004.12:g.39342419G>A	TOPMed
RFC1	P35251	p.Glu87Gly	rs1298830396	missense variant	-	NC_000004.12:g.39342416T>C	gnomAD
RFC1	P35251	p.Leu89Arg	rs746294007	missense variant	-	NC_000004.12:g.39342410A>C	ExAC,gnomAD
RFC1	P35251	p.Ser92Tyr	rs1304573693	missense variant	-	NC_000004.12:g.39342401G>T	gnomAD
RFC1	P35251	p.Ser93Phe	rs1464312678	missense variant	-	NC_000004.12:g.39342398G>A	gnomAD
RFC1	P35251	p.Lys94Arg	rs375316955	missense variant	-	NC_000004.12:g.39342395T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Pro95Arg	rs751042466	missense variant	-	NC_000004.12:g.39342392G>C	ExAC,gnomAD
RFC1	P35251	p.Pro95Leu	rs751042466	missense variant	-	NC_000004.12:g.39342392G>A	ExAC,gnomAD
RFC1	P35251	p.Pro95Ser	rs1177398955	missense variant	-	NC_000004.12:g.39342393G>A	TOPMed
RFC1	P35251	p.Gly96Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39342389C>A	NCI-TCGA
RFC1	P35251	p.Lys97Glu	rs777096916	missense variant	-	NC_000004.12:g.39342387T>C	ExAC,gnomAD
RFC1	P35251	p.Arg100Pro	COSM6167109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39342377C>G	NCI-TCGA Cosmic
RFC1	P35251	p.Arg100Trp	rs369009654	missense variant	-	NC_000004.12:g.39342378G>A	ESP,TOPMed,gnomAD
RFC1	P35251	p.Arg100Gln	rs757953728	missense variant	-	NC_000004.12:g.39342377C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gln101Glu	rs752508090	missense variant	-	NC_000004.12:g.39342375G>C	ExAC,gnomAD
RFC1	P35251	p.Gln101Arg	rs145820966	missense variant	-	NC_000004.12:g.39342374T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp102Tyr	rs143871368	missense variant	-	NC_000004.12:g.39342372C>A	1000Genomes,ESP,ExAC,gnomAD
RFC1	P35251	p.Asp102His	rs143871368	missense variant	-	NC_000004.12:g.39342372C>G	1000Genomes,ESP,ExAC,gnomAD
RFC1	P35251	p.Asp102Asn	rs143871368	missense variant	-	NC_000004.12:g.39342372C>T	1000Genomes,ESP,ExAC,gnomAD
RFC1	P35251	p.Pro103Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39342368G>A	NCI-TCGA
RFC1	P35251	p.Thr105Ile	rs1252583536	missense variant	-	NC_000004.12:g.39342362G>A	gnomAD
RFC1	P35251	p.Thr105HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39342360_39342364ATGTA>-	NCI-TCGA
RFC1	P35251	p.Tyr106Cys	rs762078054	missense variant	-	NC_000004.12:g.39342359T>C	ExAC,gnomAD
RFC1	P35251	p.Thr110Arg	rs768553238	missense variant	-	NC_000004.12:g.39342347G>C	ExAC,gnomAD
RFC1	P35251	p.Asp111Val	rs146652791	missense variant	-	NC_000004.12:g.39327756T>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp111Glu	rs569007187	missense variant	-	NC_000004.12:g.39327755A>T	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.Asp115Asn	COSM1055240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39327745C>T	NCI-TCGA Cosmic
RFC1	P35251	p.Phe116Leu	rs777151667	missense variant	-	NC_000004.12:g.39327740A>T	ExAC,gnomAD
RFC1	P35251	p.Met117Thr	rs747412068	missense variant	-	NC_000004.12:g.39327738A>G	ExAC,gnomAD
RFC1	P35251	p.Met117Val	rs771216082	missense variant	-	NC_000004.12:g.39327739T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala121Val	rs372006154	missense variant	-	NC_000004.12:g.39327726G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys124Glu	rs778438832	missense variant	-	NC_000004.12:g.39327718T>C	ExAC,gnomAD
RFC1	P35251	p.Glu127Asp	rs749171683	missense variant	-	NC_000004.12:g.39327707C>G	ExAC,gnomAD
RFC1	P35251	p.Asn128Ser	rs780156280	missense variant	-	NC_000004.12:g.39327705T>C	ExAC,gnomAD
RFC1	P35251	p.Arg130Gly	rs1209981346	missense variant	-	NC_000004.12:g.39327700T>C	gnomAD
RFC1	P35251	p.Arg130Ile	rs755963050	missense variant	-	NC_000004.12:g.39327699C>A	ExAC,gnomAD
RFC1	P35251	p.Ser131Cys	rs750301952	missense variant	-	NC_000004.12:g.39327696G>C	ExAC,gnomAD
RFC1	P35251	p.Ser131Ala	rs1028691663	missense variant	-	NC_000004.12:g.39327697A>C	TOPMed
RFC1	P35251	p.Thr132Ile	rs764195715	missense variant	-	NC_000004.12:g.39327693G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asn133Asp	rs895251004	missense variant	-	NC_000004.12:g.39327691T>C	TOPMed
RFC1	P35251	p.Asn133Lys	rs370664179	missense variant	-	NC_000004.12:g.39327689A>T	ESP,TOPMed,gnomAD
RFC1	P35251	p.Asn133His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39327691T>G	NCI-TCGA
RFC1	P35251	p.His135Arg	rs752880075	missense variant	-	NC_000004.12:g.39327684T>C	ExAC,gnomAD
RFC1	P35251	p.Gly137Glu	rs765256510	missense variant	-	NC_000004.12:g.39327678C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly137Ala	rs765256510	missense variant	-	NC_000004.12:g.39327678C>G	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Met141Val	rs1324933063	missense variant	-	NC_000004.12:g.39327667T>C	TOPMed
RFC1	P35251	p.Lys143Glu	rs766928118	missense variant	-	NC_000004.12:g.39327661T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys143Asn	COSM1429624	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39327659C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Glu146Gln	rs760942281	missense variant	-	NC_000004.12:g.39327652C>G	ExAC,gnomAD
RFC1	P35251	p.Asn147His	COSM284551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39327649T>G	NCI-TCGA Cosmic
RFC1	P35251	p.Thr148Ser	rs771601041	missense variant	-	NC_000004.12:g.39327645G>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys151Asn	COSM3825820	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39327635C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Asn152Ser	rs376735975	missense variant	-	NC_000004.12:g.39327633T>C	gnomAD
RFC1	P35251	p.Lys153Arg	rs1376751995	missense variant	-	NC_000004.12:g.39327630T>C	gnomAD
RFC1	P35251	p.Pro154Ala	rs1437548709	missense variant	-	NC_000004.12:g.39327628G>C	gnomAD
RFC1	P35251	p.Leu155Phe	rs1442148992	missense variant	-	NC_000004.12:g.39327623T>A	TOPMed
RFC1	P35251	p.Pro157Ala	rs141727621	missense variant	-	NC_000004.12:g.39327619G>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ile158Val	rs1205077506	missense variant	-	NC_000004.12:g.39327616T>C	gnomAD
RFC1	P35251	p.Leu160Phe	rs1275704364	missense variant	-	NC_000004.12:g.39327610G>A	gnomAD
RFC1	P35251	p.Leu160Arg	rs748868314	missense variant	-	NC_000004.12:g.39327609A>C	ExAC,gnomAD
RFC1	P35251	p.Pro162Ala	rs1344726050	missense variant	-	NC_000004.12:g.39327604G>C	TOPMed,gnomAD
RFC1	P35251	p.Pro162Ser	rs1344726050	missense variant	-	NC_000004.12:g.39327604G>A	TOPMed,gnomAD
RFC1	P35251	p.Val165Leu	rs745632771	missense variant	-	NC_000004.12:g.39327595C>G	ExAC,gnomAD
RFC1	P35251	p.Leu166Phe	rs780987463	missense variant	-	NC_000004.12:g.39327592G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Leu166Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39327591A>G	NCI-TCGA
RFC1	P35251	p.Thr171Asn	rs757029913	missense variant	-	NC_000004.12:g.39327576G>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly172Arg	rs1330768994	missense variant	-	NC_000004.12:g.39327574C>T	gnomAD
RFC1	P35251	p.Ser173Gly	rs1405087418	missense variant	-	NC_000004.12:g.39327571T>C	TOPMed
RFC1	P35251	p.Gln175Arg	rs886459529	missense variant	-	NC_000004.12:g.39327564T>C	TOPMed
RFC1	P35251	p.Arg176Lys	rs765456455	missense variant	-	NC_000004.12:g.39327561C>T	ExAC,gnomAD
RFC1	P35251	p.Arg176Gly	rs752894711	missense variant	-	NC_000004.12:g.39327562T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg176Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39327561C>A	NCI-TCGA
RFC1	P35251	p.Ser177Cys	rs1333670896	missense variant	-	NC_000004.12:g.39327558G>C	TOPMed
RFC1	P35251	p.Lys179Asn	rs1176744586	missense variant	-	NC_000004.12:g.39327551C>A	TOPMed,gnomAD
RFC1	P35251	p.Val182Met	rs1178792632	missense variant	-	NC_000004.12:g.39327544C>T	gnomAD
RFC1	P35251	p.Ser184Arg	rs1346833260	missense variant	-	NC_000004.12:g.39327538T>G	TOPMed
RFC1	P35251	p.Ser184Asn	rs1481174828	missense variant	-	NC_000004.12:g.39327537C>T	gnomAD
RFC1	P35251	p.Arg186Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39327531C>A	NCI-TCGA
RFC1	P35251	p.Ser190ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39326637_39326638AA>-	NCI-TCGA
RFC1	P35251	p.Gln191Arg	rs779100462	missense variant	-	NC_000004.12:g.39326633T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asn192Asp	rs1409483894	missense variant	-	NC_000004.12:g.39326631T>C	gnomAD
RFC1	P35251	p.Ser196Pro	rs768073660	missense variant	-	NC_000004.12:g.39326619A>G	gnomAD
RFC1	P35251	p.Asn199His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39326610T>G	NCI-TCGA
RFC1	P35251	p.Asp200Asn	rs1445540699	missense variant	-	NC_000004.12:g.39326607C>T	TOPMed
RFC1	P35251	p.Glu201Val	COSM3917743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39326603T>A	NCI-TCGA Cosmic
RFC1	P35251	p.Glu201Lys	rs753892527	missense variant	-	NC_000004.12:g.39326604C>T	ExAC,gnomAD
RFC1	P35251	p.Ala202Asp	rs780132979	missense variant	-	NC_000004.12:g.39326600G>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala202Gly	rs780132979	missense variant	-	NC_000004.12:g.39326600G>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala202Val	rs780132979	missense variant	-	NC_000004.12:g.39326600G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala204Val	COSM1055236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39326594G>A	NCI-TCGA Cosmic
RFC1	P35251	p.Ala204Thr	rs376166947	missense variant	-	NC_000004.12:g.39326595C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Leu207Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39326585A>G	NCI-TCGA
RFC1	P35251	p.Gln208His	rs55704262	missense variant	-	NC_000004.12:g.39326581C>A	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gln208Leu	rs1318842710	missense variant	-	NC_000004.12:g.39326582T>A	gnomAD
RFC1	P35251	p.Leu209Val	COSM72411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39326580G>C	NCI-TCGA Cosmic
RFC1	P35251	p.Ala213Val	rs532718208	missense variant	-	NC_000004.12:g.39326567G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg217Lys	rs369129047	missense variant	-	NC_000004.12:g.39323410C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.His220Leu	rs1214931015	missense variant	-	NC_000004.12:g.39323401T>A	TOPMed,gnomAD
RFC1	P35251	p.His220Arg	rs1214931015	missense variant	-	NC_000004.12:g.39323401T>C	TOPMed,gnomAD
RFC1	P35251	p.Asp222Glu	rs781704210	missense variant	-	NC_000004.12:g.39323394A>C	ExAC,gnomAD
RFC1	P35251	p.Asp222Gly	rs750536992	missense variant	-	NC_000004.12:g.39323395T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp222Val	rs750536992	missense variant	-	NC_000004.12:g.39323395T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Glu224Gly	rs757891211	missense variant	-	NC_000004.12:g.39323389T>C	ExAC,gnomAD
RFC1	P35251	p.Phe225LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39323385A>-	NCI-TCGA
RFC1	P35251	p.Thr228Ile	rs758834846	missense variant	-	NC_000004.12:g.39323377G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr228Ser	rs764517878	missense variant	-	NC_000004.12:g.39323378T>A	ExAC,gnomAD
RFC1	P35251	p.Leu229Ser	rs1215006062	missense variant	-	NC_000004.12:g.39323374A>G	gnomAD
RFC1	P35251	p.Leu229Val	rs1171628276	missense variant	-	NC_000004.12:g.39323375A>C	gnomAD
RFC1	P35251	p.Met231Val	rs1430656897	missense variant	-	NC_000004.12:g.39323369T>C	gnomAD
RFC1	P35251	p.Asp233Glu	rs1423371394	missense variant	-	NC_000004.12:g.39323361A>T	gnomAD
RFC1	P35251	p.Glu234Asp	rs752335779	missense variant	-	NC_000004.12:g.39323358T>G	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys240ArgPheSerTerUnkUnk	COSM4614015	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39323341T>-	NCI-TCGA Cosmic
RFC1	P35251	p.Lys240Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39323342T>G	NCI-TCGA
RFC1	P35251	p.Ala241GlyPheSerTerUnkUnk	COSM1429622	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39323340_39323341insT	NCI-TCGA Cosmic
RFC1	P35251	p.Ala241Val	rs753551050	missense variant	-	NC_000004.12:g.39321373G>A	ExAC,gnomAD
RFC1	P35251	p.Arg242Ter	rs760191657	stop gained	-	NC_000004.12:g.39321371G>A	ExAC,gnomAD
RFC1	P35251	p.Arg242Leu	rs773119176	missense variant	-	NC_000004.12:g.39321370C>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg242Gln	rs773119176	missense variant	-	NC_000004.12:g.39321370C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg242Gly	rs760191657	missense variant	-	NC_000004.12:g.39321371G>C	ExAC,gnomAD
RFC1	P35251	p.Asp244Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39321365C>A	NCI-TCGA
RFC1	P35251	p.Glu246SerPheSerTerUnkUnk	COSM5221805	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39321358_39321359TC>-	NCI-TCGA Cosmic
RFC1	P35251	p.Ala247Glu	rs201358782	missense variant	-	NC_000004.12:g.39321355G>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala247Val	rs201358782	missense variant	-	NC_000004.12:g.39321355G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly248Arg	rs28903095	missense variant	-	NC_000004.12:g.39321353C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Glu249Lys	rs1035194287	missense variant	-	NC_000004.12:g.39321350C>T	TOPMed
RFC1	P35251	p.Glu249Ter	COSM1055235	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39321350C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Thr250Met	rs746033187	missense variant	-	NC_000004.12:g.39321346G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser253Pro	rs1174790021	missense variant	-	NC_000004.12:g.39321338A>G	TOPMed
RFC1	P35251	p.Val254Ala	rs1157194176	missense variant	-	NC_000004.12:g.39321334A>G	gnomAD
RFC1	P35251	p.Val254Leu	rs778423177	missense variant	-	NC_000004.12:g.39321335C>G	ExAC,gnomAD
RFC1	P35251	p.Gln255Arg	rs1456803206	missense variant	-	NC_000004.12:g.39321331T>C	gnomAD
RFC1	P35251	p.Ala256Gly	rs759016023	missense variant	-	NC_000004.12:g.39321328G>C	ExAC,gnomAD
RFC1	P35251	p.Asn257Thr	rs748525530	missense variant	-	NC_000004.12:g.39321325T>G	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Leu258Phe	rs779098990	missense variant	-	NC_000004.12:g.39321321T>G	ExAC,gnomAD
RFC1	P35251	p.Ser259Cys	rs755402925	missense variant	-	NC_000004.12:g.39321320T>A	ExAC,gnomAD
RFC1	P35251	p.Ser259Ile	rs1190866199	missense variant	-	NC_000004.12:g.39321319C>A	TOPMed,gnomAD
RFC1	P35251	p.Ser259Gly	rs755402925	missense variant	-	NC_000004.12:g.39321320T>C	ExAC,gnomAD
RFC1	P35251	p.Glu262Asp	rs1182825971	missense variant	-	NC_000004.12:g.39321309T>G	gnomAD
RFC1	P35251	p.Pro267Thr	rs753366121	missense variant	-	NC_000004.12:g.39321296G>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Pro267Ser	rs753366121	missense variant	-	NC_000004.12:g.39321296G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Pro267Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39321295G>A	NCI-TCGA
RFC1	P35251	p.His268Tyr	rs147243992	missense variant	-	NC_000004.12:g.39321293G>A	ESP
RFC1	P35251	p.His268Gln	rs200063891	missense variant	-	NC_000004.12:g.39321291A>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.His268Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39321293G>C	NCI-TCGA
RFC1	P35251	p.Thr272Ile	rs756791779	missense variant	-	NC_000004.12:g.39320663G>A	ExAC,gnomAD
RFC1	P35251	p.Gln274Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39320658G>A	NCI-TCGA
RFC1	P35251	p.Gln274His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39320656T>G	NCI-TCGA
RFC1	P35251	p.Val275Ile	rs1364986119	missense variant	-	NC_000004.12:g.39320655C>T	gnomAD
RFC1	P35251	p.Asp277His	rs201311873	missense variant	-	NC_000004.12:g.39320649C>G	1000Genomes
RFC1	P35251	p.Glu278Lys	rs762655321	missense variant	-	NC_000004.12:g.39320646C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Glu278Gly	rs752583076	missense variant	-	NC_000004.12:g.39320645T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg279Lys	rs149569383	missense variant	-	NC_000004.12:g.39320642C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys280Asn	rs760932819	missense variant	-	NC_000004.12:g.39320638C>G	ExAC,gnomAD
RFC1	P35251	p.Pro284Ser	rs1194812270	missense variant	-	NC_000004.12:g.39320628G>A	gnomAD
RFC1	P35251	p.Arg285Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39320624C>A	NCI-TCGA
RFC1	P35251	p.Lys286Arg	rs572693377	missense variant	-	NC_000004.12:g.39320621T>C	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.Lys289Arg	rs940851959	missense variant	-	NC_000004.12:g.39320612T>C	TOPMed
RFC1	P35251	p.Glu291Gly	rs761966474	missense variant	-	NC_000004.12:g.39320606T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser293Pro	rs1491001504	missense variant	-	NC_000004.12:g.39320601A>G	gnomAD
RFC1	P35251	p.Lys294Glu	rs372173606	missense variant	-	NC_000004.12:g.39320598T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser296Pro	rs533588479	missense variant	-	NC_000004.12:g.39320592A>G	TOPMed
RFC1	P35251	p.Lys301Arg	rs1340472680	missense variant	-	NC_000004.12:g.39320576T>C	gnomAD
RFC1	P35251	p.Ala304Thr	rs749592628	missense variant	-	NC_000004.12:g.39320568C>T	ExAC,gnomAD
RFC1	P35251	p.Ala304Val	rs1231286448	missense variant	-	NC_000004.12:g.39320567G>A	gnomAD
RFC1	P35251	p.Asp305Glu	rs1457407252	missense variant	-	NC_000004.12:g.39320563G>C	TOPMed
RFC1	P35251	p.Ile307Thr	rs1210493037	missense variant	-	NC_000004.12:g.39320558A>G	TOPMed
RFC1	P35251	p.Val310Asp	rs1470051371	missense variant	-	NC_000004.12:g.39320549A>T	gnomAD
RFC1	P35251	p.Ser311Tyr	rs1406840014	missense variant	-	NC_000004.12:g.39320546G>T	gnomAD
RFC1	P35251	p.Pro313Ser	rs1326741422	missense variant	-	NC_000004.12:g.39320541G>A	gnomAD
RFC1	P35251	p.Pro313Leu	rs1409175533	missense variant	-	NC_000004.12:g.39320540G>A	TOPMed,gnomAD
RFC1	P35251	p.Lys314Arg	rs780346100	missense variant	-	NC_000004.12:g.39320537T>C	ExAC,gnomAD
RFC1	P35251	p.Ser317Thr	rs559190915	missense variant	-	NC_000004.12:g.39320529A>T	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.Lys318Glu	rs1431306296	missense variant	-	NC_000004.12:g.39320526T>C	TOPMed
RFC1	P35251	p.Ala320Val	rs1428155697	missense variant	-	NC_000004.12:g.39320519G>A	gnomAD
RFC1	P35251	p.Ala320Pro	rs1197925875	missense variant	-	NC_000004.12:g.39320520C>G	TOPMed
RFC1	P35251	p.Met322Leu	rs780832386	missense variant	-	NC_000004.12:g.39320514T>A	ExAC,gnomAD
RFC1	P35251	p.Met322Thr	rs756712820	missense variant	-	NC_000004.12:g.39320513A>G	ExAC,gnomAD
RFC1	P35251	p.Lys323Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39320510T>G	NCI-TCGA
RFC1	P35251	p.Arg324Lys	rs1181661083	missense variant	-	NC_000004.12:g.39320507C>T	gnomAD
RFC1	P35251	p.Lys325Asn	rs746600122	missense variant	-	NC_000004.12:g.39320503T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Glu326Gln	COSM733515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39320502C>G	NCI-TCGA Cosmic
RFC1	P35251	p.Glu326Gly	rs777544130	missense variant	-	NC_000004.12:g.39320501T>C	ExAC,gnomAD
RFC1	P35251	p.Glu327Gly	rs908017417	missense variant	-	NC_000004.12:g.39320498T>C	TOPMed
RFC1	P35251	p.Ser328Arg	rs1168146563	missense variant	-	NC_000004.12:g.39320496T>G	TOPMed
RFC1	P35251	p.Ser328Thr	rs1057394361	missense variant	-	NC_000004.12:g.39320495C>G	TOPMed,gnomAD
RFC1	P35251	p.Ser329Pro	rs1167967876	missense variant	-	NC_000004.12:g.39320493A>G	gnomAD
RFC1	P35251	p.Ser329Phe	rs201558285	missense variant	-	NC_000004.12:g.39320492G>A	1000Genomes
RFC1	P35251	p.Tyr330Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39320489T>G	NCI-TCGA
RFC1	P35251	p.Ile333Thr	rs752705656	missense variant	-	NC_000004.12:g.39320480A>G	ExAC,gnomAD
RFC1	P35251	p.Pro335Leu	rs1294705033	missense variant	-	NC_000004.12:g.39320474G>A	TOPMed
RFC1	P35251	p.Ala337Pro	rs938879469	missense variant	-	NC_000004.12:g.39320469C>G	TOPMed,gnomAD
RFC1	P35251	p.Ala337Thr	COSM3428490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39320469C>T	NCI-TCGA Cosmic
RFC1	P35251	p.Ser338Leu	rs1441302773	missense variant	-	NC_000004.12:g.39320465G>A	gnomAD
RFC1	P35251	p.Ser338Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39320466A>G	NCI-TCGA
RFC1	P35251	p.Lys339Glu	rs569282965	missense variant	-	NC_000004.12:g.39320463T>C	1000Genomes
RFC1	P35251	p.Arg340Lys	rs1336137802	missense variant	-	NC_000004.12:g.39320459C>T	gnomAD
RFC1	P35251	p.Glu342Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39320454C>A	NCI-TCGA
RFC1	P35251	p.Ala344Thr	rs1450181816	missense variant	-	NC_000004.12:g.39320448C>T	gnomAD
RFC1	P35251	p.Lys346Ile	rs137867721	missense variant	-	NC_000004.12:g.39320441T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys346Arg	rs137867721	missense variant	-	NC_000004.12:g.39320441T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys348Arg	rs980499125	missense variant	-	NC_000004.12:g.39320435T>C	TOPMed
RFC1	P35251	p.Glu350Gly	rs1341561499	missense variant	-	NC_000004.12:g.39320429T>C	TOPMed
RFC1	P35251	p.Thr351Ala	rs774537579	missense variant	-	NC_000004.12:g.39320427T>C	ExAC,gnomAD
RFC1	P35251	p.Thr351Ile	rs567126430	missense variant	-	NC_000004.12:g.39320426G>A	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.Pro354Ala	COSM4942343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39320418G>C	NCI-TCGA Cosmic
RFC1	P35251	p.Pro354Ser	rs1182173157	missense variant	-	NC_000004.12:g.39320418G>A	gnomAD
RFC1	P35251	p.Lys355Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39320413C>A	NCI-TCGA
RFC1	P35251	p.Thr357Ser	rs55734630	missense variant	-	NC_000004.12:g.39320408G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr357Ala	rs775978452	missense variant	-	NC_000004.12:g.39320409T>C	ExAC,gnomAD
RFC1	P35251	p.Lys358Arg	rs746285755	missense variant	-	NC_000004.12:g.39320405T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser359Asn	rs776147227	missense variant	-	NC_000004.12:g.39320402C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Pro361Ser	rs140509314	missense variant	-	NC_000004.12:g.39320397G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys363Arg	rs1281185688	missense variant	-	NC_000004.12:g.39320390T>C	gnomAD
RFC1	P35251	p.Glu365Lys	rs746480822	missense variant	-	NC_000004.12:g.39320385C>T	ExAC,gnomAD
RFC1	P35251	p.Ser366Cys	rs749259193	missense variant	-	NC_000004.12:g.39317021G>C	ExAC,gnomAD
RFC1	P35251	p.Ser366Phe	rs749259193	missense variant	-	NC_000004.12:g.39317021G>A	ExAC,gnomAD
RFC1	P35251	p.Val367Leu	rs201630129	missense variant	-	NC_000004.12:g.39317019C>A	1000Genomes
RFC1	P35251	p.Ser368Asn	rs1301837081	missense variant	-	NC_000004.12:g.39317015C>T	TOPMed,gnomAD
RFC1	P35251	p.Pro369Leu	rs1424516993	missense variant	-	NC_000004.12:g.39317012G>A	TOPMed,gnomAD
RFC1	P35251	p.Pro369Thr	rs1354550306	missense variant	-	NC_000004.12:g.39317013G>T	gnomAD
RFC1	P35251	p.Ser372Phe	rs779858013	missense variant	-	NC_000004.12:g.39317003G>A	ExAC,gnomAD
RFC1	P35251	p.Lys374Asn	COSM3775829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39316996C>G	NCI-TCGA Cosmic
RFC1	P35251	p.Arg376His	rs374549255	missense variant	-	NC_000004.12:g.39316991C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg376Cys	rs138918161	missense variant	-	NC_000004.12:g.39316992G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr377Pro	rs752817616	missense variant	-	NC_000004.12:g.39316989T>G	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr377Ala	rs752817616	missense variant	-	NC_000004.12:g.39316989T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asn378Asp	rs759294546	missense variant	-	NC_000004.12:g.39316986T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Tyr379Phe	rs759989483	missense variant	-	NC_000004.12:g.39316982T>A	ExAC,gnomAD
RFC1	P35251	p.Tyr382Phe	rs754336277	missense variant	-	NC_000004.12:g.39316973T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg383Gln	rs896111059	missense variant	-	NC_000004.12:g.39316970C>T	gnomAD
RFC1	P35251	p.Ser384Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39316967C>T	NCI-TCGA
RFC1	P35251	p.Arg388Ter	rs1035947105	stop gained	-	NC_000004.12:g.39316956G>A	TOPMed,gnomAD
RFC1	P35251	p.Arg388Gln	rs760962792	missense variant	-	NC_000004.12:g.39316955C>T	ExAC,gnomAD
RFC1	P35251	p.Glu389Asp	rs552225009	missense variant	-	NC_000004.12:g.39316951T>G	ExAC,gnomAD
RFC1	P35251	p.Gly390Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39316950C>T	NCI-TCGA
RFC1	P35251	p.Pro391Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39316947G>A	NCI-TCGA
RFC1	P35251	p.Lys392Glu	rs200654181	missense variant	-	NC_000004.12:g.39316944T>C	ESP,ExAC,gnomAD
RFC1	P35251	p.Ala393Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39316941C>T	NCI-TCGA
RFC1	P35251	p.Leu394Pro	rs761384771	missense variant	-	NC_000004.12:g.39316937A>G	ExAC,gnomAD
RFC1	P35251	p.Ser396Phe	rs773949787	missense variant	-	NC_000004.12:g.39316931G>A	ExAC,gnomAD
RFC1	P35251	p.Glu398Ter	COSM1055233	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39316926C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Ile399Met	rs768311053	missense variant	-	NC_000004.12:g.39316921T>C	ExAC,gnomAD
RFC1	P35251	p.Lys401Arg	rs1003176717	missense variant	-	NC_000004.12:g.39316916T>C	gnomAD
RFC1	P35251	p.Gly409Asp	rs762425047	missense variant	-	NC_000004.12:g.39312909C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Leu410Val	rs769655528	missense variant	-	NC_000004.12:g.39312907G>C	ExAC,gnomAD
RFC1	P35251	p.Ile411Met	COSM447836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39312902T>C	NCI-TCGA Cosmic
RFC1	P35251	p.Ile411Val	rs374739604	missense variant	-	NC_000004.12:g.39312904T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ile411Leu	rs374739604	missense variant	-	NC_000004.12:g.39312904T>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Phe412Cys	rs1417303223	missense variant	-	NC_000004.12:g.39312900A>C	gnomAD
RFC1	P35251	p.Gly416Asp	rs370587908	missense variant	-	NC_000004.12:g.39312888C>T	ESP,ExAC
RFC1	P35251	p.Val417Met	rs755074181	missense variant	-	NC_000004.12:g.39312886C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Glu419Ala	rs756529258	missense variant	-	NC_000004.12:g.39312879T>G	ExAC,gnomAD
RFC1	P35251	p.Ile421Val	rs201881505	missense variant	-	NC_000004.12:g.39312874T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg423Ter	rs757709074	stop gained	-	NC_000004.12:g.39312868G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg423Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39312867C>T	NCI-TCGA
RFC1	P35251	p.Asp424Asn	rs1398201957	missense variant	-	NC_000004.12:g.39312865C>T	TOPMed
RFC1	P35251	p.Glu425Gly	COSM1055232	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39312861T>C	NCI-TCGA Cosmic
RFC1	P35251	p.Ala426Val	rs145113928	missense variant	-	NC_000004.12:g.39312858G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala426Thr	rs1306637456	missense variant	-	NC_000004.12:g.39312859C>T	gnomAD
RFC1	P35251	p.Ala426Gly	rs145113928	missense variant	-	NC_000004.12:g.39312858G>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys427Arg	rs1287485715	missense variant	-	NC_000004.12:g.39312855T>C	TOPMed
RFC1	P35251	p.Leu429Val	rs1453577637	missense variant	-	NC_000004.12:g.39312850G>C	gnomAD
RFC1	P35251	p.Ile430Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39312847T>A	NCI-TCGA
RFC1	P35251	p.Arg432His	rs368877527	missense variant	-	NC_000004.12:g.39312840C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg432Leu	rs368877527	missense variant	-	NC_000004.12:g.39312840C>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg432Cys	rs774908169	missense variant	-	NC_000004.12:g.39312841G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Tyr433His	rs776556661	missense variant	-	NC_000004.12:g.39312838A>G	ExAC,gnomAD
RFC1	P35251	p.Gly434Arg	rs1441351794	missense variant	-	NC_000004.12:g.39312835C>T	gnomAD
RFC1	P35251	p.Val437Leu	COSM1055230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39312826C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Val437Leu	rs774551557	missense variant	-	NC_000004.12:g.39312826C>G	ExAC,gnomAD
RFC1	P35251	p.Thr438Ile	rs1412158758	missense variant	-	NC_000004.12:g.39312822G>A	TOPMed
RFC1	P35251	p.Asn440His	rs1461537999	missense variant	-	NC_000004.12:g.39312817T>G	gnomAD
RFC1	P35251	p.Ser442Asn	rs768802365	missense variant	-	NC_000004.12:g.39312810C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys443Thr	rs1202897147	missense variant	-	NC_000004.12:g.39312807T>G	gnomAD
RFC1	P35251	p.Lys443Asn	rs749546912	missense variant	-	NC_000004.12:g.39312806C>G	ExAC,gnomAD
RFC1	P35251	p.Met450Val	rs141418649	missense variant	-	NC_000004.12:g.39312787T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg452His	rs369740243	missense variant	-	NC_000004.12:g.39312780C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg452Leu	COSM6100008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39312780C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Asp453Val	rs1314858321	missense variant	-	NC_000004.12:g.39312777T>A	gnomAD
RFC1	P35251	p.Asp453Glu	rs1297682689	missense variant	-	NC_000004.12:g.39312776A>T	TOPMed
RFC1	P35251	p.Ser454Asn	rs757688983	missense variant	-	NC_000004.12:g.39312774C>T	ExAC,gnomAD
RFC1	P35251	p.Gln456Arg	rs1342525398	missense variant	-	NC_000004.12:g.39312768T>C	gnomAD
RFC1	P35251	p.Ser457Thr	rs1356104867	missense variant	-	NC_000004.12:g.39312766A>T	TOPMed
RFC1	P35251	p.Ser459Asn	rs1381747027	missense variant	-	NC_000004.12:g.39312759C>T	gnomAD
RFC1	P35251	p.Ala462Asp	rs1374223058	missense variant	-	NC_000004.12:g.39311548G>T	TOPMed
RFC1	P35251	p.Ala463Thr	rs146649219	missense variant	-	NC_000004.12:g.39311546C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly466Glu	rs1461222088	missense variant	-	NC_000004.12:g.39311536C>T	gnomAD
RFC1	P35251	p.Ile469Ser	rs371180655	missense variant	-	NC_000004.12:g.39311527A>C	ESP,ExAC,gnomAD
RFC1	P35251	p.Asp471Ala	rs771612144	missense variant	-	NC_000004.12:g.39311521T>G	ExAC,gnomAD
RFC1	P35251	p.Asp471Glu	rs1346505319	missense variant	-	NC_000004.12:g.39311520A>T	TOPMed
RFC1	P35251	p.Gly474LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39311513_39311514insGCAGCCTTGGGGACAAAAATTATTGATGAAG	NCI-TCGA
RFC1	P35251	p.Ile479Thr	rs747537833	missense variant	-	NC_000004.12:g.39311497A>G	ExAC,gnomAD
RFC1	P35251	p.Arg480Gln	rs758796849	missense variant	-	NC_000004.12:g.39311494C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg480Trp	rs367742770	missense variant	-	NC_000004.12:g.39311495G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Met482Leu	rs778686345	missense variant	-	NC_000004.12:g.39311489T>G	ExAC,gnomAD
RFC1	P35251	p.Gly484Asp	rs541798977	missense variant	-	NC_000004.12:g.39311482C>T	gnomAD
RFC1	P35251	p.Lys485Gln	rs754480413	missense variant	-	NC_000004.12:g.39311480T>G	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys485Arg	rs1199696482	missense variant	-	NC_000004.12:g.39311479T>C	TOPMed
RFC1	P35251	p.Lys486Arg	COSM4924932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39311476T>C	NCI-TCGA Cosmic
RFC1	P35251	p.Ser487Ala	rs753388385	missense variant	-	NC_000004.12:g.39311474A>C	ExAC,gnomAD
RFC1	P35251	p.Thr495Ala	rs1437034275	missense variant	-	NC_000004.12:g.39311450T>C	TOPMed,gnomAD
RFC1	P35251	p.Glu496Gly	rs750377380	missense variant	-	NC_000004.12:g.39311446T>C	ExAC,gnomAD
RFC1	P35251	p.Lys498Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39309027C>A	NCI-TCGA
RFC1	P35251	p.Lys502Arg	rs1447332666	missense variant	-	NC_000004.12:g.39309016T>C	TOPMed
RFC1	P35251	p.Leu503Gln	rs750314523	missense variant	-	NC_000004.12:g.39309013A>T	ExAC,gnomAD
RFC1	P35251	p.Arg505Ile	COSM1429618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39309007C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Arg505Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39309007C>T	NCI-TCGA
RFC1	P35251	p.Thr506Ile	rs756968126	missense variant	-	NC_000004.12:g.39309004G>A	ExAC,gnomAD
RFC1	P35251	p.Thr506Ser	rs767556822	missense variant	-	NC_000004.12:g.39309005T>A	ExAC,gnomAD
RFC1	P35251	p.Pro507Ser	rs1212392375	missense variant	-	NC_000004.12:g.39309002G>A	TOPMed,gnomAD
RFC1	P35251	p.Gln508Pro	rs369507694	missense variant	-	NC_000004.12:g.39308998T>G	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys509Arg	rs764000823	missense variant	-	NC_000004.12:g.39308995T>C	ExAC,gnomAD
RFC1	P35251	p.Lys509Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39308995T>G	NCI-TCGA
RFC1	P35251	p.Asn510Lys	rs777001359	missense variant	-	NC_000004.12:g.39308991A>T	ExAC
RFC1	P35251	p.Asn510His	rs1448444299	missense variant	-	NC_000004.12:g.39308993T>G	TOPMed
RFC1	P35251	p.Asn510MetPheSerTerUnkUnk	COSM2846613	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39308992T>-	NCI-TCGA Cosmic
RFC1	P35251	p.Asn510Ser	rs759788745	missense variant	-	NC_000004.12:g.39308992T>C	ExAC,gnomAD
RFC1	P35251	p.Val511Ile	rs1183676074	missense variant	-	NC_000004.12:g.39308990C>T	TOPMed
RFC1	P35251	p.Lys514Gln	rs766510970	missense variant	-	NC_000004.12:g.39308981T>G	ExAC,gnomAD
RFC1	P35251	p.Arg515Ile	COSM1055229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308977C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Lys516Arg	rs760899943	missense variant	-	NC_000004.12:g.39308974T>C	ExAC,gnomAD
RFC1	P35251	p.Ser518Thr	rs773588677	missense variant	-	NC_000004.12:g.39308968C>G	ExAC,gnomAD
RFC1	P35251	p.Pro519Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39308965G>A	NCI-TCGA
RFC1	P35251	p.Lys521Gln	rs748440897	missense variant	-	NC_000004.12:g.39308960T>G	ExAC,gnomAD
RFC1	P35251	p.Lys521Glu	rs748440897	missense variant	-	NC_000004.12:g.39308960T>C	ExAC,gnomAD
RFC1	P35251	p.Lys522Glu	rs1037054416	missense variant	-	NC_000004.12:g.39308957T>C	TOPMed,gnomAD
RFC1	P35251	p.Ser524Pro	rs774729803	missense variant	-	NC_000004.12:g.39308951A>G	ExAC,gnomAD
RFC1	P35251	p.Ser526Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39308944G>T	NCI-TCGA
RFC1	P35251	p.Lys527Glu	rs1420896413	missense variant	-	NC_000004.12:g.39308942T>C	gnomAD
RFC1	P35251	p.Lys527Ile	rs769012008	missense variant	-	NC_000004.12:g.39308941T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Pro531Leu	rs755615781	missense variant	-	NC_000004.12:g.39308929G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr532Ile	rs918114541	missense variant	-	NC_000004.12:g.39308926G>A	TOPMed
RFC1	P35251	p.Lys534Arg	rs780964610	missense variant	-	NC_000004.12:g.39308920T>C	ExAC
RFC1	P35251	p.Lys534Glu	rs745419387	missense variant	-	NC_000004.12:g.39308921T>C	ExAC,gnomAD
RFC1	P35251	p.Arg535Lys	rs757166322	missense variant	-	NC_000004.12:g.39308917C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp536Gly	rs1241536139	missense variant	-	NC_000004.12:g.39308914T>C	TOPMed,gnomAD
RFC1	P35251	p.Asp536Glu	rs1298018014	missense variant	-	NC_000004.12:g.39308913G>C	gnomAD
RFC1	P35251	p.Asp536Tyr	rs1474469059	missense variant	-	NC_000004.12:g.39308915C>A	gnomAD
RFC1	P35251	p.Asp536Val	rs1241536139	missense variant	-	NC_000004.12:g.39308914T>A	TOPMed,gnomAD
RFC1	P35251	p.Leu538Trp	rs1194466482	missense variant	-	NC_000004.12:g.39308908A>C	gnomAD
RFC1	P35251	p.Leu538PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39308907_39308908insA	NCI-TCGA
RFC1	P35251	p.Ala539Ser	rs751480509	missense variant	-	NC_000004.12:g.39308906C>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala539Val	rs371255500	missense variant	-	NC_000004.12:g.39308905G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys540Thr	rs959688159	missense variant	-	NC_000004.12:g.39308902T>G	TOPMed
RFC1	P35251	p.Lys540Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39308901C>A	NCI-TCGA
RFC1	P35251	p.Ile542Met	rs1229613405	missense variant	-	NC_000004.12:g.39308895T>C	gnomAD
RFC1	P35251	p.Lys543TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39308894_39308895insCAGTTGATGGACATTTGGATTGTTTCCA	NCI-TCGA
RFC1	P35251	p.Lys543Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39308893T>G	NCI-TCGA
RFC1	P35251	p.Lys544Asn	COSM277047	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308889C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Lys544Arg	rs1206688096	missense variant	-	NC_000004.12:g.39308890T>C	TOPMed
RFC1	P35251	p.Thr546Ile	rs773390851	missense variant	-	NC_000004.12:g.39308884G>A	ExAC,gnomAD
RFC1	P35251	p.Thr546Ala	rs183190812	missense variant	-	NC_000004.12:g.39308885T>C	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp547Gly	rs1432677571	missense variant	-	NC_000004.12:g.39308881T>C	gnomAD
RFC1	P35251	p.Asp547Glu	rs979799484	missense variant	-	NC_000004.12:g.39308880A>T	TOPMed,gnomAD
RFC1	P35251	p.Phe549Leu	rs1301779593	missense variant	-	NC_000004.12:g.39308876A>G	TOPMed,gnomAD
RFC1	P35251	p.Ser552Ile	rs1404753197	missense variant	-	NC_000004.12:g.39308866C>A	gnomAD
RFC1	P35251	p.Lys556Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39308854T>C	NCI-TCGA
RFC1	P35251	p.Gln558His	rs767518528	missense variant	-	NC_000004.12:g.39308847C>A	ExAC,gnomAD
RFC1	P35251	p.Ser564Asn	rs774851700	missense variant	-	NC_000004.12:g.39308830C>T	ExAC,gnomAD
RFC1	P35251	p.Gly565Cys	rs768993651	missense variant	-	NC_000004.12:g.39308828C>A	ExAC,gnomAD
RFC1	P35251	p.Gly565Val	rs749720141	missense variant	-	NC_000004.12:g.39308827C>A	ExAC,gnomAD
RFC1	P35251	p.Asp566Asn	rs1478833233	missense variant	-	NC_000004.12:g.39308825C>T	gnomAD
RFC1	P35251	p.Lys568Arg	rs149897970	missense variant	-	NC_000004.12:g.39308818T>C	ESP,ExAC,gnomAD
RFC1	P35251	p.Ala569Thr	rs747426890	missense variant	-	NC_000004.12:g.39308816C>T	ExAC
RFC1	P35251	p.Arg570Ser	rs375278905	missense variant	-	NC_000004.12:g.39308811C>G	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp575Asn	rs1201656145	missense variant	-	NC_000004.12:g.39308798C>T	gnomAD
RFC1	P35251	p.Glu578Gly	rs1223487211	missense variant	-	NC_000004.12:g.39308788T>C	gnomAD
RFC1	P35251	p.Glu578Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39308789C>G	NCI-TCGA
RFC1	P35251	p.Lys580SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39308781_39308782TT>-	NCI-TCGA
RFC1	P35251	p.Glu582Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39308777C>T	NCI-TCGA
RFC1	P35251	p.Leu584Trp	rs370147025	missense variant	-	NC_000004.12:g.39308770A>C	ESP,ExAC,gnomAD
RFC1	P35251	p.Leu584Phe	rs942718865	missense variant	-	NC_000004.12:g.39308769C>G	TOPMed
RFC1	P35251	p.Thr593Ala	rs139096199	missense variant	-	NC_000004.12:g.39308744T>C	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser594Leu	rs748333308	missense variant	-	NC_000004.12:g.39308740G>A	gnomAD
RFC1	P35251	p.Leu595Phe	rs1368902896	missense variant	-	NC_000004.12:g.39308738G>A	gnomAD
RFC1	P35251	p.Lys596Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39308733C>A	NCI-TCGA
RFC1	P35251	p.Ile598Val	rs2066791	missense variant	-	NC_000004.12:g.39308729T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ile598Val	rs2066791	missense variant	-	NC_000004.12:g.39308729T>C	UniProt,dbSNP
RFC1	P35251	p.Ile598Val	VAR_014860	missense variant	-	NC_000004.12:g.39308729T>C	UniProt
RFC1	P35251	p.Ile598Met	rs377460974	missense variant	-	NC_000004.12:g.39308727T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ile599Val	rs562481131	missense variant	-	NC_000004.12:g.39308726T>C	gnomAD
RFC1	P35251	p.Ile599Thr	rs1332240399	missense variant	-	NC_000004.12:g.39308725A>G	gnomAD
RFC1	P35251	p.Gln601Arg	rs780401677	missense variant	-	NC_000004.12:g.39308719T>C	ExAC,gnomAD
RFC1	P35251	p.Gly603Arg	rs1427211421	missense variant	-	NC_000004.12:g.39308714C>G	gnomAD
RFC1	P35251	p.Asp604Asn	rs989070824	missense variant	-	NC_000004.12:g.39308711C>T	gnomAD
RFC1	P35251	p.Asp604Glu	rs1432587686	missense variant	-	NC_000004.12:g.39308709G>C	TOPMed,gnomAD
RFC1	P35251	p.Ala608Gly	rs1394387956	missense variant	-	NC_000004.12:g.39308698G>C	TOPMed
RFC1	P35251	p.Ala608Thr	COSM1055227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308699C>T	NCI-TCGA Cosmic
RFC1	P35251	p.Asn609Thr	rs1192754517	missense variant	-	NC_000004.12:g.39308695T>G	gnomAD
RFC1	P35251	p.Arg613His	rs1057747	missense variant	-	NC_000004.12:g.39308683C>T	TOPMed,gnomAD
RFC1	P35251	p.Arg613Cys	rs767574991	missense variant	-	NC_000004.12:g.39308684G>A	ExAC,gnomAD
RFC1	P35251	p.Arg613Leu	rs1057747	missense variant	-	NC_000004.12:g.39308683C>A	TOPMed,gnomAD
RFC1	P35251	p.Trp614Cys	COSM4926622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308679C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Arg616Gln	rs761854574	missense variant	-	NC_000004.12:g.39308674C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asn617Ser	rs140584118	missense variant	-	NC_000004.12:g.39308671T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asn617Ile	rs140584118	missense variant	-	NC_000004.12:g.39308671T>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asn617Tyr	rs1313341834	missense variant	-	NC_000004.12:g.39308672T>A	gnomAD
RFC1	P35251	p.Gln619Arg	rs1222450872	missense variant	-	NC_000004.12:g.39308665T>C	gnomAD
RFC1	P35251	p.Gln619Pro	rs1222450872	missense variant	-	NC_000004.12:g.39308665T>G	gnomAD
RFC1	P35251	p.Lys620Asn	COSM1055226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308661C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Ser621Arg	rs763277787	missense variant	-	NC_000004.12:g.39308660T>G	ExAC,gnomAD
RFC1	P35251	p.Ser621Asn	rs775780200	missense variant	-	NC_000004.12:g.39308659C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser621Gly	rs763277787	missense variant	-	NC_000004.12:g.39308660T>C	ExAC,gnomAD
RFC1	P35251	p.Ser622Phe	rs770083988	missense variant	-	NC_000004.12:g.39308656G>A	ExAC,gnomAD
RFC1	P35251	p.Ser623Phe	rs1404170132	missense variant	-	NC_000004.12:g.39308653G>A	gnomAD
RFC1	P35251	p.Glu624Gly	COSM1429617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39308650T>C	NCI-TCGA Cosmic
RFC1	P35251	p.Glu624Lys	rs748232846	missense variant	-	NC_000004.12:g.39308651C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp625Val	rs148725208	missense variant	-	NC_000004.12:g.39308647T>A	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp625Gly	rs148725208	missense variant	-	NC_000004.12:g.39308647T>C	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys626Asn	rs1339139106	missense variant	-	NC_000004.12:g.39308643T>A	TOPMed,gnomAD
RFC1	P35251	p.Lys627Asn	rs1295438015	missense variant	-	NC_000004.12:g.39308640T>G	TOPMed,gnomAD
RFC1	P35251	p.His628Arg	rs746587538	missense variant	-	NC_000004.12:g.39308638T>C	ExAC,gnomAD
RFC1	P35251	p.Ala630Gly	rs760243930	missense variant	-	NC_000004.12:g.39306701G>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys631Arg	rs748034378	missense variant	-	NC_000004.12:g.39306698T>C	ExAC,gnomAD
RFC1	P35251	p.Gly633Arg	rs778771799	missense variant	-	NC_000004.12:g.39306693C>G	ExAC,gnomAD
RFC1	P35251	p.Gly633Asp	rs768491668	missense variant	-	NC_000004.12:g.39306692C>T	ExAC,gnomAD
RFC1	P35251	p.Phe635Ile	COSM4124581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39306687A>T	NCI-TCGA Cosmic
RFC1	P35251	p.Ser636Phe	rs55727832	missense variant	-	NC_000004.12:g.39306683G>A	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly637Ser	rs147227437	missense variant	-	NC_000004.12:g.39306681C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly637Val	rs1298681724	missense variant	-	NC_000004.12:g.39306680C>A	gnomAD
RFC1	P35251	p.Asp639Tyr	COSM1055225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39306675C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Asp640Gly	rs61748745	missense variant	-	NC_000004.12:g.39306671T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp640Val	rs61748745	missense variant	-	NC_000004.12:g.39306671T>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly641Val	rs374867437	missense variant	-	NC_000004.12:g.39306668C>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly641Ser	rs1135544	missense variant	-	NC_000004.12:g.39306669C>T	TOPMed,gnomAD
RFC1	P35251	p.Gly641Cys	COSM481248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39306669C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Gly641Asp	rs374867437	missense variant	-	NC_000004.12:g.39306668C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser642Phe	rs755342067	missense variant	-	NC_000004.12:g.39306665G>A	ExAC,gnomAD
RFC1	P35251	p.Ala646Gly	rs754209348	missense variant	-	NC_000004.12:g.39306653G>C	ExAC,gnomAD
RFC1	P35251	p.Ala647Val	rs766790092	missense variant	-	NC_000004.12:g.39306650G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala647Thr	rs1205041770	missense variant	-	NC_000004.12:g.39306651C>T	gnomAD
RFC1	P35251	p.Pro652Leu	rs1210803086	missense variant	-	NC_000004.12:g.39306635G>A	gnomAD
RFC1	P35251	p.Pro652Ser	rs767080058	missense variant	-	NC_000004.12:g.39306636G>A	ExAC,gnomAD
RFC1	P35251	p.Pro653Thr	rs761473475	missense variant	-	NC_000004.12:g.39306633G>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Pro653Leu	rs774313023	missense variant	-	NC_000004.12:g.39306632G>A	ExAC,gnomAD
RFC1	P35251	p.Val655Ile	rs768524441	missense variant	-	NC_000004.12:g.39306627C>T	ExAC,gnomAD
RFC1	P35251	p.Gly656Asp	rs1318653305	missense variant	-	NC_000004.12:g.39306623C>T	gnomAD
RFC1	P35251	p.Lys657Thr	rs1418708823	missense variant	-	NC_000004.12:g.39306620T>G	TOPMed
RFC1	P35251	p.Thr658Asn	rs749270095	missense variant	-	NC_000004.12:g.39306617G>T	ExAC,gnomAD
RFC1	P35251	p.Ser662Phe	COSM3603577	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39306605G>A	NCI-TCGA Cosmic
RFC1	P35251	p.Ser662Pro	rs775104115	missense variant	-	NC_000004.12:g.39306606A>G	ExAC,gnomAD
RFC1	P35251	p.Ser662Thr	rs775104115	missense variant	-	NC_000004.12:g.39306606A>T	ExAC,gnomAD
RFC1	P35251	p.Val664Met	rs1322730316	missense variant	-	NC_000004.12:g.39306600C>T	gnomAD
RFC1	P35251	p.Cys665Phe	rs747174315	missense variant	-	NC_000004.12:g.39306596C>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Cys665Tyr	rs747174315	missense variant	-	NC_000004.12:g.39306596C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Cys665Arg	rs368938991	missense variant	-	NC_000004.12:g.39306597A>G	ESP,ExAC,gnomAD
RFC1	P35251	p.Glu667Asp	COSM3409284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39304926C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Glu667Lys	rs756514185	missense variant	-	NC_000004.12:g.39304928C>T	ExAC,gnomAD
RFC1	P35251	p.Tyr670His	rs1258552616	missense variant	-	NC_000004.12:g.39304919A>G	TOPMed
RFC1	P35251	p.Val673Leu	rs28903096	missense variant	-	NC_000004.12:g.39304910C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val673Met	rs28903096	missense variant	-	NC_000004.12:g.39304910C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val673Leu	rs28903096	missense variant	-	NC_000004.12:g.39304910C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Glu674Ala	rs145107601	missense variant	-	NC_000004.12:g.39304906T>G	ESP,TOPMed
RFC1	P35251	p.Asn676Ser	rs941829262	missense variant	-	NC_000004.12:g.39304900T>C	TOPMed,gnomAD
RFC1	P35251	p.Arg681Gln	rs762579159	missense variant	-	NC_000004.12:g.39304885C>T	ExAC,gnomAD
RFC1	P35251	p.Ser682Thr	rs759308496	missense variant	-	NC_000004.12:g.39304882C>G	ExAC,gnomAD
RFC1	P35251	p.Ser682Arg	rs776364634	missense variant	-	NC_000004.12:g.39304881A>C	ExAC,gnomAD
RFC1	P35251	p.Lys683Met	rs138470471	missense variant	-	NC_000004.12:g.39304879T>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser685Gly	rs761874961	missense variant	-	NC_000004.12:g.39304874T>C	ExAC,gnomAD
RFC1	P35251	p.Ala688Val	rs370446342	missense variant	-	NC_000004.12:g.39304864G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ile689Phe	rs1472514752	missense variant	-	NC_000004.12:g.39304862T>A	TOPMed,gnomAD
RFC1	P35251	p.Ala691Gly	rs368198058	missense variant	-	NC_000004.12:g.39304855G>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Glu692Asp	rs11932767	missense variant	-	NC_000004.12:g.39304851C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Glu692Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39304852T>A	NCI-TCGA
RFC1	P35251	p.Ser693Leu	rs1215653913	missense variant	-	NC_000004.12:g.39304849G>A	gnomAD
RFC1	P35251	p.Ile699Phe	rs1239961331	missense variant	-	NC_000004.12:g.39304832T>A	TOPMed
RFC1	P35251	p.Ser704Ala	rs757653219	missense variant	-	NC_000004.12:g.39304817A>C	ExAC,gnomAD
RFC1	P35251	p.Asn705Lys	rs777334711	missense variant	-	NC_000004.12:g.39303150A>T	ExAC,gnomAD
RFC1	P35251	p.Ala707Thr	rs376187267	missense variant	-	NC_000004.12:g.39303146C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val711Leu	rs747438761	missense variant	-	NC_000004.12:g.39303134C>G	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr713Met	rs142517282	missense variant	-	NC_000004.12:g.39303127G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr713Arg	rs142517282	missense variant	-	NC_000004.12:g.39303127G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr713Ala	rs564171683	missense variant	-	NC_000004.12:g.39303128T>C	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys714Arg	rs1292187854	missense variant	-	NC_000004.12:g.39303124T>C	gnomAD
RFC1	P35251	p.Ala716Val	rs1350708315	missense variant	-	NC_000004.12:g.39303118G>A	gnomAD
RFC1	P35251	p.Leu717Phe	rs2306598	missense variant	-	NC_000004.12:g.39303116G>A	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Leu717Val	rs2306598	missense variant	-	NC_000004.12:g.39303116G>C	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp723TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39303097_39303098TC>-	NCI-TCGA
RFC1	P35251	p.Gly724Val	COSM447832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39303094C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Gly724Asp	COSM1429616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39303094C>T	NCI-TCGA Cosmic
RFC1	P35251	p.Asn728Ile	rs766409944	missense variant	-	NC_000004.12:g.39303082T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly732Arg	rs750181204	missense variant	-	NC_000004.12:g.39303071C>G	ExAC,gnomAD
RFC1	P35251	p.Ile734Thr	rs1246960748	missense variant	-	NC_000004.12:g.39303064A>G	TOPMed,gnomAD
RFC1	P35251	p.Gln735Ter	COSM3603576	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39303062G>A	NCI-TCGA Cosmic
RFC1	P35251	p.Ile738Phe	rs773587132	missense variant	-	NC_000004.12:g.39302868T>A	ExAC,gnomAD
RFC1	P35251	p.Gly739Ser	rs1380486322	missense variant	-	NC_000004.12:g.39302865C>T	TOPMed
RFC1	P35251	p.Leu740Arg	rs1294463605	missense variant	-	NC_000004.12:g.39302861A>C	TOPMed,gnomAD
RFC1	P35251	p.His743Arg	rs577715030	missense variant	-	NC_000004.12:g.39302852T>C	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.His743Tyr	rs1425676226	missense variant	-	NC_000004.12:g.39302853G>A	gnomAD
RFC1	P35251	p.Thr744Ala	rs1437474171	missense variant	-	NC_000004.12:g.39302850T>C	gnomAD
RFC1	P35251	p.Thr744Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302850T>A	NCI-TCGA
RFC1	P35251	p.Lys745Arg	rs1280310569	missense variant	-	NC_000004.12:g.39302846T>C	gnomAD
RFC1	P35251	p.Ile749Val	rs1237165224	missense variant	-	NC_000004.12:g.39302835T>C	gnomAD
RFC1	P35251	p.Cys750Tyr	rs1178739379	missense variant	-	NC_000004.12:g.39302831C>T	gnomAD
RFC1	P35251	p.Cys750Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302831C>G	NCI-TCGA
RFC1	P35251	p.Met751Val	rs558110225	missense variant	-	NC_000004.12:g.39302829T>C	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.Asn753Ser	rs778599319	missense variant	-	NC_000004.12:g.39302822T>C	ExAC,gnomAD
RFC1	P35251	p.Asn753Asp	rs1359115561	missense variant	-	NC_000004.12:g.39302823T>C	TOPMed
RFC1	P35251	p.Arg755Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302816C>A	NCI-TCGA
RFC1	P35251	p.His757Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302811G>A	NCI-TCGA
RFC1	P35251	p.Pro758Leu	rs1282996098	missense variant	-	NC_000004.12:g.39302807G>A	gnomAD
RFC1	P35251	p.Ile760Phe	rs748839045	missense variant	-	NC_000004.12:g.39302802T>A	ExAC
RFC1	P35251	p.Arg761Leu	rs774151006	missense variant	-	NC_000004.12:g.39302798C>A	ExAC,gnomAD
RFC1	P35251	p.Arg761His	rs774151006	missense variant	-	NC_000004.12:g.39302798C>T	ExAC,gnomAD
RFC1	P35251	p.Arg761Cys	rs1241292836	missense variant	-	NC_000004.12:g.39302799G>A	TOPMed,gnomAD
RFC1	P35251	p.Ser762Phe	rs750328833	missense variant	-	NC_000004.12:g.39302795G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val764Ile	rs1215156008	missense variant	-	NC_000004.12:g.39302790C>T	TOPMed
RFC1	P35251	p.His765Arg	rs767280898	missense variant	-	NC_000004.12:g.39302786T>C	ExAC,gnomAD
RFC1	P35251	p.Tyr766Cys	rs1282724899	missense variant	-	NC_000004.12:g.39302783T>C	gnomAD
RFC1	P35251	p.Tyr766His	rs757175937	missense variant	-	NC_000004.12:g.39302784A>G	ExAC,gnomAD
RFC1	P35251	p.Cys767Ser	rs752963051	missense variant	-	NC_000004.12:g.39302780C>G	ExAC,gnomAD
RFC1	P35251	p.Arg771Cys	rs765595532	missense variant	-	NC_000004.12:g.39302769G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg771His	rs147804632	missense variant	-	NC_000004.12:g.39302768C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gln773Pro	rs201195147	missense variant	-	NC_000004.12:g.39302762T>G	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.Gln773Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302763G>C	NCI-TCGA
RFC1	P35251	p.Pro775Leu	rs940269437	missense variant	-	NC_000004.12:g.39302756G>A	TOPMed,gnomAD
RFC1	P35251	p.Arg776Gln	rs199688793	missense variant	-	NC_000004.12:g.39302753C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg776Trp	rs773606833	missense variant	-	NC_000004.12:g.39302754G>A	ExAC,gnomAD
RFC1	P35251	p.Arg776Leu	rs199688793	missense variant	-	NC_000004.12:g.39302753C>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gln779His	rs1304775320	missense variant	-	NC_000004.12:g.39302743C>A	gnomAD
RFC1	P35251	p.Gly782Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302595C>T	NCI-TCGA
RFC1	P35251	p.Met784Val	rs768055158	missense variant	-	NC_000004.12:g.39302589T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Met785Ile	rs369274424	missense variant	-	NC_000004.12:g.39302584C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ile787Val	rs774655717	missense variant	-	NC_000004.12:g.39302580T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ile787Thr	rs1275594880	missense variant	-	NC_000004.12:g.39302579A>G	TOPMed
RFC1	P35251	p.Ala788Glu	rs769010068	missense variant	-	NC_000004.12:g.39302576G>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala788Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302576G>A	NCI-TCGA
RFC1	P35251	p.Phe789Tyr	rs1221752406	missense variant	-	NC_000004.12:g.39302573A>T	TOPMed
RFC1	P35251	p.Lys790Ile	rs1245651984	missense variant	-	NC_000004.12:g.39302570T>A	gnomAD
RFC1	P35251	p.Lys794Asn	COSM1055221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39302557C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Ile795Phe	rs762605626	missense variant	-	NC_000004.12:g.39302556T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Pro796Leu	rs144320551	missense variant	-	NC_000004.12:g.39302552G>A	TOPMed,gnomAD
RFC1	P35251	p.Pro796Ser	rs775059245	missense variant	-	NC_000004.12:g.39302553G>A	ExAC,gnomAD
RFC1	P35251	p.Pro796His	rs144320551	missense variant	-	NC_000004.12:g.39302552G>T	TOPMed,gnomAD
RFC1	P35251	p.Pro797Ser	COSM3603575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39302550G>A	NCI-TCGA Cosmic
RFC1	P35251	p.Pro797LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39302549G>-	NCI-TCGA
RFC1	P35251	p.Ala799Thr	rs769341933	missense variant	-	NC_000004.12:g.39302544C>T	ExAC,gnomAD
RFC1	P35251	p.Leu805Phe	rs1383685207	missense variant	-	NC_000004.12:g.39302524C>A	gnomAD
RFC1	P35251	p.Leu805Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302526A>T	NCI-TCGA
RFC1	P35251	p.Ala807Thr	rs1197434795	missense variant	-	NC_000004.12:g.39302520C>T	TOPMed
RFC1	P35251	p.Gln809Pro	rs144389543	missense variant	-	NC_000004.12:g.39302513T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gln809Leu	rs144389543	missense variant	-	NC_000004.12:g.39302513T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gln809Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39302514G>A	NCI-TCGA
RFC1	P35251	p.Ile811Val	rs1461514755	missense variant	-	NC_000004.12:g.39302508T>C	gnomAD
RFC1	P35251	p.Val814Ile	rs370085283	missense variant	-	NC_000004.12:g.39302376C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.His816Gln	rs541683474	missense variant	-	NC_000004.12:g.39302368A>C	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asn817Ser	rs140467780	missense variant	-	NC_000004.12:g.39302366T>C	ESP,ExAC,TOPMed
RFC1	P35251	p.Trp821Ser	rs1229526080	missense variant	-	NC_000004.12:g.39302354C>G	TOPMed
RFC1	P35251	p.Cys822Tyr	rs201073589	missense variant	-	NC_000004.12:g.39302351C>T	1000Genomes,TOPMed
RFC1	P35251	p.Arg824Gln	rs1178128210	missense variant	-	NC_000004.12:g.39302345C>T	gnomAD
RFC1	P35251	p.Ala827Val	rs1273637156	missense variant	-	NC_000004.12:g.39302336G>A	gnomAD
RFC1	P35251	p.Thr829Ala	rs781188723	missense variant	-	NC_000004.12:g.39302331T>C	ExAC,gnomAD
RFC1	P35251	p.Tyr830Cys	rs535971979	missense variant	-	NC_000004.12:g.39302327T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp831Gly	rs1234716742	missense variant	-	NC_000004.12:g.39302324T>C	gnomAD
RFC1	P35251	p.Gln832Leu	rs1372749611	missense variant	-	NC_000004.12:g.39302321T>A	gnomAD
RFC1	P35251	p.Ala833Thr	rs946365296	missense variant	-	NC_000004.12:g.39302319C>T	TOPMed,gnomAD
RFC1	P35251	p.Ala833Ser	rs946365296	missense variant	-	NC_000004.12:g.39302319C>A	TOPMed,gnomAD
RFC1	P35251	p.Lys834Arg	rs752053155	missense variant	-	NC_000004.12:g.39302315T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys834Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302315T>G	NCI-TCGA
RFC1	P35251	p.Ala835Gly	rs764625447	missense variant	-	NC_000004.12:g.39302312G>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser837Cys	rs914951575	missense variant	-	NC_000004.12:g.39302306G>C	gnomAD
RFC1	P35251	p.His838Tyr	rs752953383	missense variant	-	NC_000004.12:g.39302304G>A	ExAC,gnomAD
RFC1	P35251	p.His838Arg	rs1436920232	missense variant	-	NC_000004.12:g.39302303T>C	gnomAD
RFC1	P35251	p.Arg839Ile	rs759045902	missense variant	-	NC_000004.12:g.39302300C>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala840Thr	rs1470562542	missense variant	-	NC_000004.12:g.39302298C>T	gnomAD
RFC1	P35251	p.Lys841Arg	rs914428458	missense variant	-	NC_000004.12:g.39302294T>C	TOPMed,gnomAD
RFC1	P35251	p.Lys841Glu	rs1234737188	missense variant	-	NC_000004.12:g.39302295T>C	gnomAD
RFC1	P35251	p.Lys842Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302292T>G	NCI-TCGA
RFC1	P35251	p.Asp843Gly	rs765974271	missense variant	-	NC_000004.12:g.39302288T>C	ExAC,gnomAD
RFC1	P35251	p.Ile844Phe	rs760329608	missense variant	-	NC_000004.12:g.39302286T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ile844Val	rs760329608	missense variant	-	NC_000004.12:g.39302286T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys845Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39302281T>G	NCI-TCGA
RFC1	P35251	p.Met846Thr	rs1367790921	missense variant	-	NC_000004.12:g.39302279A>G	TOPMed
RFC1	P35251	p.Met846Val	rs771956490	missense variant	-	NC_000004.12:g.39302280T>C	ExAC,gnomAD
RFC1	P35251	p.Pro848Leu	rs199897885	missense variant	-	NC_000004.12:g.39300410G>A	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala852Ser	rs774401356	missense variant	-	NC_000004.12:g.39300399C>A	ExAC,gnomAD
RFC1	P35251	p.Ala852Val	rs377090257	missense variant	-	NC_000004.12:g.39300398G>A	ESP,TOPMed,gnomAD
RFC1	P35251	p.Arg853Gln	rs762772857	missense variant	-	NC_000004.12:g.39300395C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg853Trp	rs768328174	missense variant	-	NC_000004.12:g.39300396G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Arg853Gly	rs768328174	missense variant	-	NC_000004.12:g.39300396G>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys854Glu	rs1438073765	missense variant	-	NC_000004.12:g.39300393T>C	TOPMed
RFC1	P35251	p.Ala857Thr	rs771093293	missense variant	-	NC_000004.12:g.39300384C>T	ExAC,gnomAD
RFC1	P35251	p.Ala858Ser	rs1475596448	missense variant	-	NC_000004.12:g.39300381C>A	gnomAD
RFC1	P35251	p.His864Tyr	rs1218853685	missense variant	-	NC_000004.12:g.39300363G>A	gnomAD
RFC1	P35251	p.Met865Val	rs374383197	missense variant	-	NC_000004.12:g.39300360T>C	ESP,ExAC,gnomAD
RFC1	P35251	p.Ser866Pro	rs1017070617	missense variant	-	NC_000004.12:g.39300357A>G	TOPMed,gnomAD
RFC1	P35251	p.Leu867Pro	rs1214987412	missense variant	-	NC_000004.12:g.39300353A>G	gnomAD
RFC1	P35251	p.Val868Leu	rs150822138	missense variant	-	NC_000004.12:g.39300351C>G	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val868Leu	rs150822138	missense variant	-	NC_000004.12:g.39300351C>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val868Gly	rs1272868342	missense variant	-	NC_000004.12:g.39300350A>C	gnomAD
RFC1	P35251	p.Asp872His	rs755363991	missense variant	-	NC_000004.12:g.39300339C>G	ExAC,gnomAD
RFC1	P35251	p.Phe874Leu	rs754307909	missense variant	-	NC_000004.12:g.39300331A>T	ExAC
RFC1	P35251	p.Phe875Leu	rs886966688	missense variant	-	NC_000004.12:g.39300330A>G	TOPMed,gnomAD
RFC1	P35251	p.His876Arg	rs780591988	missense variant	-	NC_000004.12:g.39300326T>C	ExAC,gnomAD
RFC1	P35251	p.Ser879Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39300317G>C	NCI-TCGA
RFC1	P35251	p.Ile880Val	rs1464085133	missense variant	-	NC_000004.12:g.39300315T>C	TOPMed,gnomAD
RFC1	P35251	p.Ala881Val	rs755790926	missense variant	-	NC_000004.12:g.39300311G>A	ExAC,gnomAD
RFC1	P35251	p.Pro882Ser	rs1368858733	missense variant	-	NC_000004.12:g.39300309G>A	TOPMed
RFC1	P35251	p.Leu883Val	rs750107361	missense variant	-	NC_000004.12:g.39300306G>C	ExAC
RFC1	P35251	p.Val885Ile	rs140065280	missense variant	-	NC_000004.12:g.39300300C>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asn888Asp	rs1256226898	missense variant	-	NC_000004.12:g.39300291T>C	TOPMed,gnomAD
RFC1	P35251	p.Ile890Val	rs1253219295	missense variant	-	NC_000004.12:g.39300285T>C	gnomAD
RFC1	P35251	p.His891Leu	rs762899997	missense variant	-	NC_000004.12:g.39300281T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.His891Gln	rs142870671	missense variant	-	NC_000004.12:g.39300280G>T	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val892Met	rs890880662	missense variant	-	NC_000004.12:g.39300279C>T	TOPMed,gnomAD
RFC1	P35251	p.Ala896Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39300267C>T	NCI-TCGA
RFC1	P35251	p.Ala897Ser	rs1482464262	missense variant	-	NC_000004.12:g.39300264C>A	TOPMed
RFC1	P35251	p.Gly898Glu	rs773542334	missense variant	-	NC_000004.12:g.39300260C>T	ExAC,gnomAD
RFC1	P35251	p.Gly899Val	rs765004911	missense variant	-	NC_000004.12:g.39300136C>A	ExAC,gnomAD
RFC1	P35251	p.Gly899Asp	rs765004911	missense variant	-	NC_000004.12:g.39300136C>T	ExAC,gnomAD
RFC1	P35251	p.Met901Val	rs1307850428	missense variant	-	NC_000004.12:g.39300131T>C	gnomAD
RFC1	P35251	p.Met901Ile	rs759394739	missense variant	-	NC_000004.12:g.39300129C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys902Glu	rs78870520	missense variant	-	NC_000004.12:g.39300128T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys902Ter	rs78870520	stop gained	-	NC_000004.12:g.39300128T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys902Arg	COSM1485946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39300127T>C	NCI-TCGA Cosmic
RFC1	P35251	p.Lys903Glu	rs767829817	missense variant	-	NC_000004.12:g.39300125T>C	ExAC,gnomAD
RFC1	P35251	p.His904Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39300122G>A	NCI-TCGA
RFC1	P35251	p.Met906Ile	rs774454174	missense variant	-	NC_000004.12:g.39300114C>G	ExAC,gnomAD
RFC1	P35251	p.Leu907Ile	rs768864359	missense variant	-	NC_000004.12:g.39300113G>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Leu907Val	rs768864359	missense variant	-	NC_000004.12:g.39300113G>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp913Glu	rs1362838626	missense variant	-	NC_000004.12:g.39300093G>C	gnomAD
RFC1	P35251	p.Ile915Leu	rs975067705	missense variant	-	NC_000004.12:g.39300089T>A	TOPMed,gnomAD
RFC1	P35251	p.Ile915Val	rs975067705	missense variant	-	NC_000004.12:g.39300089T>C	TOPMed,gnomAD
RFC1	P35251	p.Asp917Ala	rs746289718	missense variant	-	NC_000004.12:g.39300082T>G	ExAC,gnomAD
RFC1	P35251	p.Asp917Tyr	rs1187786692	missense variant	-	NC_000004.12:g.39300083C>A	gnomAD
RFC1	P35251	p.Asp917Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39300082T>A	NCI-TCGA
RFC1	P35251	p.Asp919Glu	rs1170040935	missense variant	-	NC_000004.12:g.39300075G>T	gnomAD
RFC1	P35251	p.Val921Ala	COSM273183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39300070A>G	NCI-TCGA Cosmic
RFC1	P35251	p.Ser923Gly	rs1345366198	missense variant	-	NC_000004.12:g.39300065T>C	TOPMed
RFC1	P35251	p.Ser923Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39300064C>T	NCI-TCGA
RFC1	P35251	p.Gln924Arg	rs746646125	missense variant	-	NC_000004.12:g.39300061T>C	ExAC,gnomAD
RFC1	P35251	p.Ile925Val	rs777206921	missense variant	-	NC_000004.12:g.39300059T>C	ExAC,gnomAD
RFC1	P35251	p.Ile925Met	rs757962310	missense variant	-	NC_000004.12:g.39300057G>C	ExAC,gnomAD
RFC1	P35251	p.Arg926Gln	rs765201139	missense variant	-	NC_000004.12:g.39300055C>T	ExAC,gnomAD
RFC1	P35251	p.Arg926Trp	rs752627380	missense variant	-	NC_000004.12:g.39300056G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser927Asn	rs754708326	missense variant	-	NC_000004.12:g.39300052C>T	ExAC,gnomAD
RFC1	P35251	p.Ser932Arg	rs375229636	missense variant	-	NC_000004.12:g.39300036A>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Leu933Phe	rs1452932688	missense variant	-	NC_000004.12:g.39300035G>A	TOPMed
RFC1	P35251	p.Ala936Val	rs372275301	missense variant	-	NC_000004.12:g.39300025G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala936Gly	COSM3603574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39300025G>C	NCI-TCGA Cosmic
RFC1	P35251	p.Ala936Pro	rs1025907552	missense variant	-	NC_000004.12:g.39300026C>G	TOPMed
RFC1	P35251	p.Ala938Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39295759C>T	NCI-TCGA
RFC1	P35251	p.Ile939Val	rs56273953	missense variant	-	NC_000004.12:g.39295756T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala941Gly	rs764456357	missense variant	-	NC_000004.12:g.39295749G>C	ExAC,gnomAD
RFC1	P35251	p.Gly946Ala	rs1461904070	missense variant	-	NC_000004.12:g.39295734C>G	gnomAD
RFC1	P35251	p.Glu947Gly	rs752781267	missense variant	-	NC_000004.12:g.39295731T>C	ExAC,gnomAD
RFC1	P35251	p.Met949Ile	rs535419863	missense variant	-	NC_000004.12:g.39295724C>T	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Tyr952Phe	rs777062272	missense variant	-	NC_000004.12:g.39295716T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Tyr952Cys	rs777062272	missense variant	-	NC_000004.12:g.39295716T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Met953Val	rs1469849381	missense variant	-	NC_000004.12:g.39295714T>C	TOPMed,gnomAD
RFC1	P35251	p.Met953Leu	rs1469849381	missense variant	-	NC_000004.12:g.39295714T>G	TOPMed,gnomAD
RFC1	P35251	p.Met953Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39295712C>A	NCI-TCGA
RFC1	P35251	p.Gln955Lys	rs17335452	missense variant	-	NC_000004.12:g.39295708G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Phe956Leu	rs1458398102	missense variant	-	NC_000004.12:g.39295705A>G	TOPMed
RFC1	P35251	p.Thr958Ile	rs371369749	missense variant	-	NC_000004.12:g.39295698G>A	ESP,ExAC,gnomAD
RFC1	P35251	p.Phe959Tyr	rs772831646	missense variant	-	NC_000004.12:g.39295695A>T	ExAC,gnomAD
RFC1	P35251	p.Pro960Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39295693G>T	NCI-TCGA
RFC1	P35251	p.His966Tyr	rs771665656	missense variant	-	NC_000004.12:g.39295675G>A	ExAC,gnomAD
RFC1	P35251	p.His966Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39295673G>T	NCI-TCGA
RFC1	P35251	p.Ser967Leu	rs1229318967	missense variant	-	NC_000004.12:g.39295671G>A	gnomAD
RFC1	P35251	p.Ser967Ter	rs1229318967	stop gained	-	NC_000004.12:g.39295671G>T	gnomAD
RFC1	P35251	p.Thr969Ile	rs1404139713	missense variant	-	NC_000004.12:g.39295665G>A	TOPMed
RFC1	P35251	p.Lys971Arg	rs1342045831	missense variant	-	NC_000004.12:g.39295659T>C	TOPMed
RFC1	P35251	p.His972Tyr	rs1372607221	missense variant	-	NC_000004.12:g.39295657G>A	gnomAD
RFC1	P35251	p.Asp973His	rs768068878	missense variant	-	NC_000004.12:g.39295654C>G	ExAC,gnomAD
RFC1	P35251	p.Asp973Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39295654C>A	NCI-TCGA
RFC1	P35251	p.Arg974His	rs749239449	missense variant	-	NC_000004.12:g.39295650C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val976Ala	COSM4124578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39295644A>G	NCI-TCGA Cosmic
RFC1	P35251	p.Gln977Arg	rs779893192	missense variant	-	NC_000004.12:g.39295641T>C	ExAC,gnomAD
RFC1	P35251	p.Ala980Val	rs755911170	missense variant	-	NC_000004.12:g.39295632G>A	ExAC,gnomAD
RFC1	P35251	p.Ala980Gly	rs755911170	missense variant	-	NC_000004.12:g.39295632G>C	ExAC,gnomAD
RFC1	P35251	p.His982Pro	rs1331380914	missense variant	-	NC_000004.12:g.39295626T>G	gnomAD
RFC1	P35251	p.Met983Thr	rs752979455	missense variant	-	NC_000004.12:g.39295623A>G	ExAC,gnomAD
RFC1	P35251	p.Met983Val	rs758624735	missense variant	-	NC_000004.12:g.39295624T>C	ExAC,gnomAD
RFC1	P35251	p.Ser984Asn	rs1181166261	missense variant	-	NC_000004.12:g.39295620C>T	gnomAD
RFC1	P35251	p.Thr987Ser	rs748376062	missense variant	-	NC_000004.12:g.39291850G>C	ExAC,gnomAD
RFC1	P35251	p.Arg992Thr	rs755063786	missense variant	-	NC_000004.12:g.39291835C>G	ExAC,gnomAD
RFC1	P35251	p.Arg992Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39291834C>A	NCI-TCGA
RFC1	P35251	p.Val994Ile	rs963487293	missense variant	-	NC_000004.12:g.39291830C>T	-
RFC1	P35251	p.Met996Val	rs766512359	missense variant	-	NC_000004.12:g.39291824T>C	ExAC,gnomAD
RFC1	P35251	p.Asp997Asn	rs1470519769	missense variant	-	NC_000004.12:g.39291821C>T	TOPMed,gnomAD
RFC1	P35251	p.Arg1003Lys	rs762236070	missense variant	-	NC_000004.12:g.39291802C>T	ExAC,gnomAD
RFC1	P35251	p.Asp1004Glu	rs774029496	missense variant	-	NC_000004.12:g.39291798A>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Asp1004His	rs983618925	missense variant	-	NC_000004.12:g.39291800C>G	TOPMed,gnomAD
RFC1	P35251	p.Leu1006Phe	rs763600225	missense variant	-	NC_000004.12:g.39291794G>A	ExAC,gnomAD
RFC1	P35251	p.Val1007Leu	rs774793398	missense variant	-	NC_000004.12:g.39291791C>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val1007Ile	rs774793398	missense variant	-	NC_000004.12:g.39291791C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Val1015Leu	COSM1055219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39291767C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Gly1017Arg	rs770817146	missense variant	-	NC_000004.12:g.39291761C>T	ExAC,gnomAD
RFC1	P35251	p.Gln1019Arg	rs147775081	missense variant	-	NC_000004.12:g.39291754T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gln1019Glu	rs1430019393	missense variant	-	NC_000004.12:g.39291755G>C	TOPMed
RFC1	P35251	p.Asp1020Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39291752C>T	NCI-TCGA
RFC1	P35251	p.Leu1024Arg	rs903676685	missense variant	-	NC_000004.12:g.39291739A>C	TOPMed
RFC1	P35251	p.Met1025Thr	rs777646834	missense variant	-	NC_000004.12:g.39291736A>G	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Met1025Ile	rs1334781039	missense variant	-	NC_000004.12:g.39291735C>T	gnomAD
RFC1	P35251	p.Asp1026Gly	rs755117925	missense variant	-	NC_000004.12:g.39291733T>C	ExAC,gnomAD
RFC1	P35251	p.Thr1027Ala	rs1230415909	missense variant	-	NC_000004.12:g.39291731T>C	gnomAD
RFC1	P35251	p.Leu1030Met	rs1431841392	missense variant	-	NC_000004.12:g.39291722A>T	gnomAD
RFC1	P35251	p.Glu1033Asp	rs1328417067	missense variant	-	NC_000004.12:g.39291711T>G	TOPMed,gnomAD
RFC1	P35251	p.Asp1034His	rs779942577	missense variant	-	NC_000004.12:g.39291710C>G	ExAC,gnomAD
RFC1	P35251	p.Glu1036Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39291702C>A	NCI-TCGA
RFC1	P35251	p.Ile1038Val	rs756247646	missense variant	-	NC_000004.12:g.39291698T>C	ExAC,gnomAD
RFC1	P35251	p.Met1039Val	rs750929464	missense variant	-	NC_000004.12:g.39291695T>C	ExAC,gnomAD
RFC1	P35251	p.Ile1041Ser	rs1304356415	missense variant	-	NC_000004.12:g.39291688A>C	gnomAD
RFC1	P35251	p.Ser1042Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39291686T>A	NCI-TCGA
RFC1	P35251	p.Ser1043Arg	rs757780127	missense variant	-	NC_000004.12:g.39291681G>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser1043Asn	rs768056946	missense variant	-	NC_000004.12:g.39291682C>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Gly1045Asp	rs1030509258	missense variant	-	NC_000004.12:g.39291676C>T	gnomAD
RFC1	P35251	p.Gly1045Val	rs1030509258	missense variant	-	NC_000004.12:g.39291676C>A	gnomAD
RFC1	P35251	p.Ser1049Thr	rs997813421	missense variant	-	NC_000004.12:g.39291664C>G	TOPMed,gnomAD
RFC1	P35251	p.Phe1051Val	rs764520516	missense variant	-	NC_000004.12:g.39291659A>C	ExAC,gnomAD
RFC1	P35251	p.Ser1052Leu	rs1326050338	missense variant	-	NC_000004.12:g.39291655G>A	TOPMed
RFC1	P35251	p.Lys1053Glu	rs775269581	missense variant	-	NC_000004.12:g.39291653T>C	ExAC,TOPMed
RFC1	P35251	p.Pro1056Ser	rs1224488198	missense variant	-	NC_000004.12:g.39291644G>A	gnomAD
RFC1	P35251	p.Lys1057Gln	rs1306234277	missense variant	-	NC_000004.12:g.39291641T>G	gnomAD
RFC1	P35251	p.Ala1061Thr	rs1321450394	missense variant	-	NC_000004.12:g.39290030C>T	TOPMed
RFC1	P35251	p.Phe1062Leu	rs1258732166	missense variant	-	NC_000004.12:g.39290025G>C	gnomAD
RFC1	P35251	p.Thr1063Ile	rs752260406	missense variant	-	NC_000004.12:g.39290023G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Tyr1066Ter	rs1233896388	stop gained	-	NC_000004.12:g.39290013G>C	TOPMed,gnomAD
RFC1	P35251	p.Asn1067Ser	rs946285194	missense variant	-	NC_000004.12:g.39290011T>C	TOPMed,gnomAD
RFC1	P35251	p.Asn1067Tyr	rs765030999	missense variant	-	NC_000004.12:g.39290012T>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys1068Glu	rs1303571019	missense variant	-	NC_000004.12:g.39290009T>C	gnomAD
RFC1	P35251	p.Glu1069Lys	rs1222086660	missense variant	-	NC_000004.12:g.39290006C>T	gnomAD
RFC1	P35251	p.His1071Arg	rs759284813	missense variant	-	NC_000004.12:g.39289999T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Leu1072Val	rs753359174	missense variant	-	NC_000004.12:g.39289997G>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Pro1074Ser	COSM5131746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39289991G>A	NCI-TCGA Cosmic
RFC1	P35251	p.Pro1074Leu	rs1007672189	missense variant	-	NC_000004.12:g.39289990G>A	gnomAD
RFC1	P35251	p.Pro1074Ala	rs765992803	missense variant	-	NC_000004.12:g.39289991G>C	ExAC,gnomAD
RFC1	P35251	p.Tyr1075Ser	rs142067677	missense variant	-	NC_000004.12:g.39289987T>G	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ala1079Asp	rs775671826	missense variant	-	NC_000004.12:g.39289975G>T	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys1081Gln	rs903917735	missense variant	-	NC_000004.12:g.39289970T>G	TOPMed,gnomAD
RFC1	P35251	p.Lys1081Glu	rs903917735	missense variant	-	NC_000004.12:g.39289970T>C	TOPMed,gnomAD
RFC1	P35251	p.Ala1082Ser	rs368875528	missense variant	-	NC_000004.12:g.39289967C>A	ESP,ExAC,TOPMed
RFC1	P35251	p.His1085Tyr	rs746091232	missense variant	-	NC_000004.12:g.39289958G>A	ExAC,gnomAD
RFC1	P35251	p.Thr1087Arg	rs538858430	missense variant	-	NC_000004.12:g.39289951G>C	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Thr1087Ile	rs538858430	missense variant	-	NC_000004.12:g.39289951G>A	1000Genomes,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser1088Asn	rs771098449	missense variant	-	NC_000004.12:g.39289948C>T	ExAC,gnomAD
RFC1	P35251	p.Ser1090Pro	rs1486129072	missense variant	-	NC_000004.12:g.39289943A>G	gnomAD
RFC1	P35251	p.Ser1090Phe	rs747464005	missense variant	-	NC_000004.12:g.39289942G>A	ExAC,gnomAD
RFC1	P35251	p.Ser1090Thr	rs1486129072	missense variant	-	NC_000004.12:g.39289943A>T	gnomAD
RFC1	P35251	p.Leu1091Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39289940G>T	NCI-TCGA
RFC1	P35251	p.Asp1092Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39289937C>A	NCI-TCGA
RFC1	P35251	p.Ser1093Leu	rs758666616	missense variant	-	NC_000004.12:g.39289933G>A	ExAC,gnomAD
RFC1	P35251	p.Asn1096Ser	rs1285016083	missense variant	-	NC_000004.12:g.39289924T>C	gnomAD
RFC1	P35251	p.Glu1098Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39289919C>A	NCI-TCGA
RFC1	P35251	p.Asn1100His	rs1291228921	missense variant	-	NC_000004.12:g.39289913T>G	TOPMed,gnomAD
RFC1	P35251	p.Asp1102Gly	rs1450848204	missense variant	-	NC_000004.12:g.39289906T>C	TOPMed
RFC1	P35251	p.Gln1105Ter	rs377688011	stop gained	-	NC_000004.12:g.39289898G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser1106Cys	rs549951885	missense variant	-	NC_000004.12:g.39289894G>C	1000Genomes,ExAC,gnomAD
RFC1	P35251	p.Asp1107Glu	rs1360400460	missense variant	-	NC_000004.12:g.39289890A>T	gnomAD
RFC1	P35251	p.Ala1113Asp	rs1351774094	missense variant	-	NC_000004.12:g.39289873G>T	TOPMed
RFC1	P35251	p.Ala1113Pro	rs1288643281	missense variant	-	NC_000004.12:g.39289874C>G	gnomAD
RFC1	P35251	p.Glu1115Asp	rs1451149913	missense variant	-	NC_000004.12:g.39289866T>G	TOPMed,gnomAD
RFC1	P35251	p.Met1119Ile	COSM6100011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39289854C>G	NCI-TCGA Cosmic
RFC1	P35251	p.Met1119Lys	rs1431812840	missense variant	-	NC_000004.12:g.39289855A>T	gnomAD
RFC1	P35251	p.Ile1120Phe	rs1347153662	missense variant	-	NC_000004.12:g.39289853T>A	gnomAD
RFC1	P35251	p.Ile1120Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39289851G>C	NCI-TCGA
RFC1	P35251	p.Lys1123Asn	rs1164773602	missense variant	-	NC_000004.12:g.39288839C>G	TOPMed,gnomAD
RFC1	P35251	p.Thr1124Lys	rs1004627601	missense variant	-	NC_000004.12:g.39288837G>T	TOPMed,gnomAD
RFC1	P35251	p.Thr1124Arg	rs1004627601	missense variant	-	NC_000004.12:g.39288837G>C	TOPMed,gnomAD
RFC1	P35251	p.Lys1125Gln	COSM1429612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39288835T>G	NCI-TCGA Cosmic
RFC1	P35251	p.Lys1125Glu	rs748946392	missense variant	-	NC_000004.12:g.39288835T>C	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ser1127Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39288828G>A	NCI-TCGA
RFC1	P35251	p.Ser1127Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39288828G>-	NCI-TCGA
RFC1	P35251	p.Lys1128Gln	rs1434820858	missense variant	-	NC_000004.12:g.39288826T>G	TOPMed,gnomAD
RFC1	P35251	p.Lys1128Glu	rs1434820858	missense variant	-	NC_000004.12:g.39288826T>C	TOPMed,gnomAD
RFC1	P35251	p.Pro1129Ser	rs755561864	missense variant	-	NC_000004.12:g.39288823G>A	ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys1131Gln	COSM4124575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39288817T>G	NCI-TCGA Cosmic
RFC1	P35251	p.Pro1132Thr	rs749903526	missense variant	-	NC_000004.12:g.39288814G>T	ExAC,gnomAD
RFC1	P35251	p.Pro1132Ser	rs749903526	missense variant	-	NC_000004.12:g.39288814G>A	ExAC,gnomAD
RFC1	P35251	p.Asp1135Gly	rs1190631383	missense variant	-	NC_000004.12:g.39288804T>C	gnomAD
RFC1	P35251	p.Asp1135His	COSM420594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39288805C>G	NCI-TCGA Cosmic
RFC1	P35251	p.Pro1138Leu	rs1259455289	missense variant	-	NC_000004.12:g.39288795G>A	gnomAD
RFC1	P35251	p.Gly1143Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39288781C>T	NCI-TCGA
RFC1	P35251	p.Ser1145Thr	rs1252432568	missense variant	-	NC_000004.12:g.39288774C>G	gnomAD
RFC1	P35251	p.Ser1146Ala	rs766937786	missense variant	-	NC_000004.12:g.39288772A>C	ExAC,gnomAD
RFC1	P35251	p.Ser1146Leu	rs17288828	missense variant	-	NC_000004.12:g.39288771G>A	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Lys1147Asn	COSM1055217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39288767C>A	NCI-TCGA Cosmic
RFC1	P35251	p.Lys1147Glu	rs369353126	missense variant	-	NC_000004.12:g.39288769T>C	ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ter1149Arg	rs149767968	stop lost	-	NC_000004.12:g.39288763A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFC1	P35251	p.Ter1149LeuGluUnkThrTerUnkUnk	NCI-TCGA novel	stop lost	-	NC_000004.12:g.39288762C>A	NCI-TCGA
CBS	P35520	p.Met1Thr	RCV000176975	missense variant	-	NC_000021.9:g.43072192A>G	ClinVar
CBS	P35520	p.Pro2Leu	rs546530618	missense variant	-	NC_000021.9:g.43072189G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro2Leu	RCV000200313	missense variant	-	NC_000021.9:g.43072189G>A	ClinVar
CBS	P35520	p.Glu4Asp	rs748832676	missense variant	-	NC_000021.9:g.43072182C>G	ExAC
CBS	P35520	p.Pro6Ser	rs528184368	missense variant	-	NC_000021.9:g.43072178G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Gln7Ter	RCV000409151	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072180dup	ClinVar
CBS	P35520	p.Gln7Ter	RCV000478091	frameshift	-	NC_000021.9:g.43072180dup	ClinVar
CBS	P35520	p.Ala8Gly	rs919403971	missense variant	-	NC_000021.9:g.43072171G>C	TOPMed,gnomAD
CBS	P35520	p.Glu9Gln	rs758092887	missense variant	-	NC_000021.9:g.43072169C>G	ExAC,gnomAD
CBS	P35520	p.Glu9Lys	rs758092887	missense variant	-	NC_000021.9:g.43072169C>T	ExAC,gnomAD
CBS	P35520	p.Glu9Ter	RCV000409242	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072161_43072179del	ClinVar
CBS	P35520	p.Val10Met	rs1479837105	missense variant	-	NC_000021.9:g.43072166C>T	gnomAD
CBS	P35520	p.Val10Ter	RCV000279971	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072166del	ClinVar
CBS	P35520	p.Val10Ter	RCV000723446	frameshift	-	NC_000021.9:g.43072166del	ClinVar
CBS	P35520	p.Gly11Arg	rs1205411379	missense variant	-	NC_000021.9:g.43072163C>T	gnomAD
CBS	P35520	p.Pro12Ser	rs558259739	missense variant	-	NC_000021.9:g.43072160G>A	ExAC,gnomAD
CBS	P35520	p.Pro12Ser	RCV000704996	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072160G>A	ClinVar
CBS	P35520	p.Gly14Val	rs1371674515	missense variant	-	NC_000021.9:g.43072153C>A	gnomAD
CBS	P35520	p.Cys15Phe	rs750850447	missense variant	-	NC_000021.9:g.43072150C>A	ExAC,gnomAD
CBS	P35520	p.His17Leu	rs768172160	missense variant	-	NC_000021.9:g.43072144T>A	ExAC
CBS	P35520	p.Arg18Ser	rs201827340	missense variant	-	NC_000021.9:g.43072142G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg18His	rs755850396	missense variant	-	NC_000021.9:g.43072141C>T	gnomAD
CBS	P35520	p.Arg18Cys	rs201827340	missense variant	-	NC_000021.9:g.43072142G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg18Cys	rs201827340	missense variant	-	NC_000021.9:g.43072142G>A	UniProt,dbSNP
CBS	P35520	p.Arg18Cys	VAR_046921	missense variant	-	NC_000021.9:g.43072142G>A	UniProt
CBS	P35520	p.Arg18Cys	RCV000251012	missense variant	-	NC_000021.9:g.43072142G>A	ClinVar
CBS	P35520	p.Ser19Leu	rs764399291	missense variant	-	NC_000021.9:g.43072138G>A	ExAC,gnomAD
CBS	P35520	p.His22Arg	RCV000197426	missense variant	-	NC_000021.9:g.43072129T>C	ClinVar
CBS	P35520	p.His22Arg	rs763151207	missense variant	-	NC_000021.9:g.43072129T>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.His22Arg	RCV000648122	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072129T>C	ClinVar
CBS	P35520	p.Ser23Thr	rs1378750597	missense variant	-	NC_000021.9:g.43072127A>T	gnomAD
CBS	P35520	p.Ser23Leu	rs775785018	missense variant	-	NC_000021.9:g.43072126G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala24Val	rs759682004	missense variant	-	NC_000021.9:g.43072123G>A	ExAC,gnomAD
CBS	P35520	p.Lys25Asn	rs1484147890	missense variant	-	NC_000021.9:g.43072119C>A	gnomAD
CBS	P35520	p.Gly26Glu	rs746782366	missense variant	-	NC_000021.9:g.43072117C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly26Ala	rs746782366	missense variant	-	NC_000021.9:g.43072117C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser27Ile	rs771748290	missense variant	-	NC_000021.9:g.43072114C>A	ExAC,gnomAD
CBS	P35520	p.Ser27Arg	rs530296903	missense variant	-	NC_000021.9:g.43072113G>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser27Asn	rs771748290	missense variant	-	NC_000021.9:g.43072114C>T	ExAC,gnomAD
CBS	P35520	p.Glu29Lys	rs778653743	missense variant	-	NC_000021.9:g.43072109C>T	ExAC
CBS	P35520	p.Gly31Glu	rs1226779462	missense variant	-	NC_000021.9:g.43072102C>T	gnomAD
CBS	P35520	p.Ser32Pro	rs753430439	missense variant	-	NC_000021.9:g.43072100A>G	ExAC,gnomAD
CBS	P35520	p.Pro33Ser	rs563211474	missense variant	-	NC_000021.9:g.43072097G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Glu34Gly	rs757899237	missense variant	-	NC_000021.9:g.43072093T>C	ExAC,gnomAD
CBS	P35520	p.Asp35Tyr	rs368471318	missense variant	-	NC_000021.9:g.43072091C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp35Asn	rs368471318	missense variant	-	NC_000021.9:g.43072091C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys36Glu	rs904453895	missense variant	-	NC_000021.9:g.43072088T>C	TOPMed,gnomAD
CBS	P35520	p.Lys36Glu	RCV000617634	missense variant	-	NC_000021.9:g.43072088T>C	ClinVar
CBS	P35520	p.Ala38Pro	rs1064795253	missense variant	-	NC_000021.9:g.43072082C>G	gnomAD
CBS	P35520	p.Ala38Thr	rs1064795253	missense variant	-	NC_000021.9:g.43072082C>T	gnomAD
CBS	P35520	p.Ala38Thr	RCV000483422	missense variant	-	NC_000021.9:g.43072082C>T	ClinVar
CBS	P35520	p.Glu40Asp	rs764487170	missense variant	-	NC_000021.9:g.43072074C>A	ExAC,gnomAD
CBS	P35520	p.Pro41Ser	rs763389870	missense variant	-	NC_000021.9:g.43072073G>A	ExAC,gnomAD
CBS	P35520	p.Pro41Leu	rs1315746924	missense variant	-	NC_000021.9:g.43072072G>A	gnomAD
CBS	P35520	p.Trp43Cys	rs1375321603	missense variant	-	NC_000021.9:g.43072065C>A	gnomAD
CBS	P35520	p.Ile44Met	rs1334019279	missense variant	-	NC_000021.9:g.43072062G>C	gnomAD
CBS	P35520	p.Arg45Gln	RCV000620035	missense variant	-	NC_000021.9:g.43072060C>T	ClinVar
CBS	P35520	p.Arg45Trp	rs201372812	missense variant	-	NC_000021.9:g.43072061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg45Gln	rs759502207	missense variant	-	NC_000021.9:g.43072060C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg45Gln	RCV000229516	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072060C>T	ClinVar
CBS	P35520	p.Arg45Trp	RCV000198945	missense variant	-	NC_000021.9:g.43072061G>A	ClinVar
CBS	P35520	p.Pro49Leu	rs148865119	missense variant	-	NC_000021.9:g.43072048G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro49Arg	rs148865119	missense variant	-	NC_000021.9:g.43072048G>C	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro49Leu	RCV000242293	missense variant	-	NC_000021.9:g.43072048G>A	ClinVar
CBS	P35520	p.Arg51Lys	RCV000486724	missense variant	-	NC_000021.9:g.43072042C>T	ClinVar
CBS	P35520	p.Arg51Lys	rs370983323	missense variant	-	NC_000021.9:g.43072042C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Arg51Ser	rs748795053	missense variant	-	NC_000021.9:g.43072041C>A	ExAC,gnomAD
CBS	P35520	p.Arg51Ter	RCV000674825	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072033_43072045del	ClinVar
CBS	P35520	p.Cys52Tyr	rs779777933	missense variant	-	NC_000021.9:g.43072039C>T	ExAC,gnomAD
CBS	P35520	p.Cys52Tyr	RCV000648117	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072039C>T	ClinVar
CBS	P35520	p.Trp54Ter	rs199948079	stop gained	-	NC_000021.9:g.43072032C>T	-
CBS	P35520	p.Trp54Ter	RCV000409663	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072032C>T	ClinVar
CBS	P35520	p.Gln55Lys	rs1292304665	missense variant	-	NC_000021.9:g.43072031G>T	gnomAD
CBS	P35520	p.Leu56Pro	rs1180472259	missense variant	-	NC_000021.9:g.43072027A>G	gnomAD
CBS	P35520	p.Gly57Ser	rs1480938544	missense variant	-	NC_000021.9:g.43072025C>T	gnomAD
CBS	P35520	p.Arg58Trp	rs555959266	missense variant	-	NC_000021.9:g.43072022G>A	ExAC,gnomAD
CBS	P35520	p.Arg58Trp	rs555959266	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt,dbSNP
CBS	P35520	p.Arg58Trp	VAR_008050	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt
CBS	P35520	p.Arg58Gln	rs758648251	missense variant	-	NC_000021.9:g.43072021C>T	ExAC,gnomAD
CBS	P35520	p.Pro59Ser	rs376496085	missense variant	-	NC_000021.9:g.43072019G>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala60Val	rs765352771	missense variant	-	NC_000021.9:g.43072015G>A	ExAC,gnomAD
CBS	P35520	p.Ser61Pro	rs1392721766	missense variant	-	NC_000021.9:g.43072013A>G	gnomAD
CBS	P35520	p.Glu62Lys	rs199507134	missense variant	-	NC_000021.9:g.43072010C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.His65Arg	rs1191141364	missense variant	-	NC_000021.9:g.43072000T>C	gnomAD
CBS	P35520	p.His67Tyr	rs1248573959	missense variant	-	NC_000021.9:g.43071995G>A	gnomAD
CBS	P35520	p.Thr68Ile	rs760770298	missense variant	-	NC_000021.9:g.43071991G>A	ExAC,gnomAD
CBS	P35520	p.Ala69Pro	rs17849313	missense variant	-	NC_000021.9:g.43071989C>G	UniProt,dbSNP
CBS	P35520	p.Ala69Pro	VAR_046922	missense variant	-	NC_000021.9:g.43071989C>G	UniProt
CBS	P35520	p.Ala69Pro	rs17849313	missense variant	-	NC_000021.9:g.43071989C>G	-
CBS	P35520	p.Pro70Arg	rs2229413	missense variant	-	NC_000021.9:g.43071985G>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro70Leu	rs2229413	missense variant	-	NC_000021.9:g.43071985G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro70Leu	RCV000199276	missense variant	-	NC_000021.9:g.43071985G>A	ClinVar
CBS	P35520	p.Ala71Glu	rs761878715	missense variant	-	NC_000021.9:g.43068613G>T	ExAC,gnomAD
CBS	P35520	p.Ala71Val	rs761878715	missense variant	-	NC_000021.9:g.43068613G>A	ExAC,gnomAD
CBS	P35520	p.Lys72Ile	rs192232907	missense variant	-	NC_000021.9:g.43068610T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys72Ile	RCV000547149	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068610T>A	ClinVar
CBS	P35520	p.Ser73Cys	rs763892068	missense variant	-	NC_000021.9:g.43068607G>C	ExAC,gnomAD
CBS	P35520	p.Pro74Ser	rs1170538361	missense variant	-	NC_000021.9:g.43068605G>A	gnomAD
CBS	P35520	p.Pro74Leu	rs762862715	missense variant	-	NC_000021.9:g.43068604G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro74Leu	RCV000621470	missense variant	-	NC_000021.9:g.43068604G>A	ClinVar
CBS	P35520	p.Lys75Asn	rs552179536	missense variant	-	NC_000021.9:g.43068600T>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Pro78Arg	rs786204608	missense variant	-	NC_000021.9:g.43068592G>C	gnomAD
CBS	P35520	p.Pro78Arg	rs786204608	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt,dbSNP
CBS	P35520	p.Pro78Arg	VAR_002171	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt
CBS	P35520	p.Pro78Arg	RCV000169367	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068592G>C	ClinVar
CBS	P35520	p.Ile80Val	rs769608918	missense variant	-	NC_000021.9:g.43068587T>C	ExAC,gnomAD
CBS	P35520	p.Leu81Val	rs1480481730	missense variant	-	NC_000021.9:g.43068584G>C	TOPMed
CBS	P35520	p.Lys82Asn	rs71322504	missense variant	-	NC_000021.9:g.43068579C>A	ExAC,gnomAD
CBS	P35520	p.Lys82Asn	rs71322504	missense variant	-	NC_000021.9:g.43068579C>G	ExAC,gnomAD
CBS	P35520	p.Gly85Arg	rs863223435	missense variant	-	NC_000021.9:g.43068572C>T	gnomAD
CBS	P35520	p.Gly85Arg	RCV000195506	missense variant	-	NC_000021.9:g.43068572C>T	ClinVar
CBS	P35520	p.Asp86Asn	rs776259258	missense variant	-	NC_000021.9:g.43068569C>T	ExAC,gnomAD
CBS	P35520	p.Thr87Ile	rs1239864776	missense variant	-	NC_000021.9:g.43068565G>A	gnomAD
CBS	P35520	p.Thr87Asn	VAR_074590	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro88Leu	COSM3551230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.43068562G>A	NCI-TCGA Cosmic
CBS	P35520	p.Pro88Ser	VAR_002172	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met89Lys	rs772450760	missense variant	-	NC_000021.9:g.43068559A>T	ExAC,gnomAD
CBS	P35520	p.Met89Ile	rs748617584	missense variant	-	NC_000021.9:g.43068558C>A	ExAC,gnomAD
CBS	P35520	p.Lys94Asn	rs779297627	missense variant	-	NC_000021.9:g.43068543C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile95Thr	rs1347662650	missense variant	-	NC_000021.9:g.43068541A>G	TOPMed,gnomAD
CBS	P35520	p.Ile95Asn	rs1347662650	missense variant	-	NC_000021.9:g.43068541A>T	TOPMed,gnomAD
CBS	P35520	p.Ile95Thr	RCV000557426	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068541A>G	ClinVar
CBS	P35520	p.Phe99Tyr	rs112029370	missense variant	-	NC_000021.9:g.43068529A>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Leu	rs749697783	missense variant	-	NC_000021.9:g.43068528G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Ser	rs112029370	missense variant	-	NC_000021.9:g.43068529A>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Tyr	RCV000459701	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068529A>T	ClinVar
CBS	P35520	p.Phe99Tyr	RCV000497848	missense variant	-	NC_000021.9:g.43068529A>T	ClinVar
CBS	P35520	p.Phe99Leu	RCV000229409	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068528G>C	ClinVar
CBS	P35520	p.Gly100Ser	rs1310019343	missense variant	-	NC_000021.9:g.43068527C>T	TOPMed,gnomAD
CBS	P35520	p.Leu101Val	RCV000310277	missense variant	Homocystinuria	NC_000021.9:g.43068524G>C	ClinVar
CBS	P35520	p.Leu101Val	rs369644531	missense variant	-	NC_000021.9:g.43068524G>C	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Leu101Pro	RCV000169617	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068523A>G	ClinVar
CBS	P35520	p.Leu101Pro	rs786204757	missense variant	-	NC_000021.9:g.43068523A>G	TOPMed
CBS	P35520	p.Leu101Pro	rs786204757	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt,dbSNP
CBS	P35520	p.Leu101Pro	VAR_021791	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt
CBS	P35520	p.Lys102Gln	RCV000394063	missense variant	Homocystinuria	NC_000021.9:g.43068521T>G	ClinVar
CBS	P35520	p.Lys102Gln	rs34040148	missense variant	-	NC_000021.9:g.43068521T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys102Asn	rs786204609	missense variant	-	NC_000021.9:g.43068519C>G	gnomAD
CBS	P35520	p.Lys102Asn	rs786204609	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt,dbSNP
CBS	P35520	p.Lys102Asn	VAR_002173	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt
CBS	P35520	p.Lys102Asn	RCV000169368	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068519C>G	ClinVar
CBS	P35520	p.Cys109Arg	rs778220779	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt,dbSNP
CBS	P35520	p.Cys109Arg	VAR_021792	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt
CBS	P35520	p.Cys109Arg	rs778220779	missense variant	-	NC_000021.9:g.43066369A>G	TOPMed,gnomAD
CBS	P35520	p.Cys109Arg	RCV000535881	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066369A>G	ClinVar
CBS	P35520	p.Ala114Thr	rs377708532	missense variant	-	NC_000021.9:g.43066354C>T	ExAC,gnomAD
CBS	P35520	p.Ala114Thr	RCV000493781	missense variant	-	NC_000021.9:g.43066354C>T	ClinVar
CBS	P35520	p.Ala114Gly	rs121964964	missense variant	-	NC_000021.9:g.43066353G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala114Val	rs121964964	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt,dbSNP
CBS	P35520	p.Ala114Val	VAR_002174	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt
CBS	P35520	p.Ala114Val	rs121964964	missense variant	-	NC_000021.9:g.43066353G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala114Ser	rs377708532	missense variant	-	NC_000021.9:g.43066354C>A	ExAC,gnomAD
CBS	P35520	p.Ala114Val	RCV000490533	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066353G>A	ClinVar
CBS	P35520	p.Gly116Arg	rs760214620	missense variant	-	NC_000021.9:g.43066348C>T	ExAC,gnomAD
CBS	P35520	p.Gly116Arg	rs760214620	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt,dbSNP
CBS	P35520	p.Gly116Arg	VAR_008053	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt
CBS	P35520	p.Gly116Arg	RCV000169116	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066348C>T	ClinVar
CBS	P35520	p.Ser117Ile	rs772768738	missense variant	-	NC_000021.9:g.43066344C>A	ExAC,gnomAD
CBS	P35520	p.Val118Met	rs763385546	missense variant	-	NC_000021.9:g.43066342C>T	ExAC,gnomAD
CBS	P35520	p.Val118Met	RCV000368495	missense variant	Homocystinuria	NC_000021.9:g.43066342C>T	ClinVar
CBS	P35520	p.Asp120Asn	rs1251292223	missense variant	-	NC_000021.9:g.43066336C>T	gnomAD
CBS	P35520	p.Arg121Leu	rs770095972	missense variant	-	NC_000021.9:g.43066332C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg121Cys	rs775992753	missense variant	-	NC_000021.9:g.43066333G>A	ExAC,gnomAD
CBS	P35520	p.Arg121Cys	rs775992753	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt,dbSNP
CBS	P35520	p.Arg121Cys	VAR_008054	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt
CBS	P35520	p.Arg121Cys	RCV000196859	missense variant	-	NC_000021.9:g.43066333G>A	ClinVar
CBS	P35520	p.Arg121His	rs770095972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt,dbSNP
CBS	P35520	p.Arg121His	VAR_008055	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt
CBS	P35520	p.Arg121Leu	rs770095972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt,dbSNP
CBS	P35520	p.Arg121Leu	VAR_008056	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt
CBS	P35520	p.Arg121His	rs770095972	missense variant	-	NC_000021.9:g.43066332C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg121His	RCV000169322	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>T	ClinVar
CBS	P35520	p.Arg121Leu	RCV000190373	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>A	ClinVar
CBS	P35520	p.Ser123Arg	rs1555875387	missense variant	-	NC_000021.9:g.43066325G>T	-
CBS	P35520	p.Ser123Arg	RCV000550221	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066325G>T	ClinVar
CBS	P35520	p.Leu124Arg	rs746251495	missense variant	-	NC_000021.9:g.43066323A>C	ExAC,gnomAD
CBS	P35520	p.Arg125Trp	rs886057100	missense variant	-	NC_000021.9:g.43066321G>A	gnomAD
CBS	P35520	p.Arg125Gln	rs781444670	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt,dbSNP
CBS	P35520	p.Arg125Gln	VAR_002175	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt
CBS	P35520	p.Arg125Gln	rs781444670	missense variant	-	NC_000021.9:g.43066320C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg125Gln	RCV000178709	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320C>T	ClinVar
CBS	P35520	p.Arg125Trp	RCV000667483	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066321G>A	ClinVar
CBS	P35520	p.Arg125Pro	VAR_046923	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met126Ter	RCV000669819	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320_43066323dup	ClinVar
CBS	P35520	p.Met126Val	VAR_008058	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile127Thr	rs771108045	missense variant	-	NC_000021.9:g.43066314A>G	ExAC,gnomAD
CBS	P35520	p.Ile127Val	rs892948151	missense variant	-	NC_000021.9:g.43066315T>C	TOPMed,gnomAD
CBS	P35520	p.Glu128Asp	rs374593242	missense variant	-	NC_000021.9:g.43066310C>G	ExAC,gnomAD
CBS	P35520	p.Glu128Lys	rs1308193541	missense variant	-	NC_000021.9:g.43066312C>T	gnomAD
CBS	P35520	p.Asp129Asn	COSM3551228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.43066309C>T	NCI-TCGA Cosmic
CBS	P35520	p.Asp129Val	rs1373078731	missense variant	-	NC_000021.9:g.43066308T>A	gnomAD
CBS	P35520	p.Ala130Val	rs1301672360	missense variant	-	NC_000021.9:g.43066305G>A	gnomAD
CBS	P35520	p.Ala130Val	RCV000622233	missense variant	-	NC_000021.9:g.43066305G>A	ClinVar
CBS	P35520	p.Glu131Asp	rs1555875351	missense variant	-	NC_000021.9:g.43066301C>G	-
CBS	P35520	p.Glu131Asp	rs1555875351	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt,dbSNP
CBS	P35520	p.Glu131Asp	VAR_002176	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt
CBS	P35520	p.Glu131Lys	rs1360154930	missense variant	-	NC_000021.9:g.43066303C>T	gnomAD
CBS	P35520	p.Glu131Asp	RCV000534364	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066301C>G	ClinVar
CBS	P35520	p.Arg132His	rs779011920	missense variant	-	NC_000021.9:g.43066299C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	RCV000726351	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Cys	rs140002610	missense variant	-	NC_000021.9:g.43066300G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Ser	rs140002610	missense variant	-	NC_000021.9:g.43066300G>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	RCV000460928	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Cys	RCV000620847	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132His	RCV000462847	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066299C>T	ClinVar
CBS	P35520	p.Arg132Ser	RCV000247887	missense variant	-	NC_000021.9:g.43066300G>T	ClinVar
CBS	P35520	p.Arg132Cys	RCV000195820	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Asp133Asn	RCV000198043	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
CBS	P35520	p.Asp133Asn	RCV000243532	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
CBS	P35520	p.Asp133Asn	rs539326697	missense variant	-	NC_000021.9:g.43066297C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Ala	rs766958673	missense variant	-	NC_000021.9:g.43066293C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	RCV000196511	missense variant	-	NC_000021.9:g.43066294C>T	ClinVar
CBS	P35520	p.Gly134Ala	RCV000198867	missense variant	-	NC_000021.9:g.43066293C>G	ClinVar
CBS	P35520	p.Gly134Glu	rs766958673	missense variant	-	NC_000021.9:g.43066293C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	rs147474549	missense variant	-	NC_000021.9:g.43066294C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	RCV000469139	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>T	ClinVar
CBS	P35520	p.Gly134Arg	RCV000648115	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>G	ClinVar
CBS	P35520	p.Gly134Arg	rs147474549	missense variant	-	NC_000021.9:g.43066294C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr135Met	RCV000549296	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290G>A	ClinVar
CBS	P35520	p.Thr135Ter	RCV000674577	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290_43066291delinsC	ClinVar
CBS	P35520	p.Thr135Met	rs144832032	missense variant	-	NC_000021.9:g.43066290G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr135Ter	RCV000411736	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294del	ClinVar
CBS	P35520	p.Leu136Pro	rs775937459	missense variant	-	NC_000021.9:g.43066287A>G	ExAC,gnomAD
CBS	P35520	p.Pro138Ala	rs765702034	missense variant	-	NC_000021.9:g.43066282G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro138Ser	rs765702034	missense variant	-	NC_000021.9:g.43066282G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly139Arg	RCV000000143	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066279C>T	ClinVar
CBS	P35520	p.Gly139Arg	rs121964965	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt,dbSNP
CBS	P35520	p.Gly139Arg	VAR_008060	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt
CBS	P35520	p.Gly139Arg	rs121964965	missense variant	-	NC_000021.9:g.43066279C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr141Met	rs771178320	missense variant	-	NC_000021.9:g.43066272G>A	ExAC,gnomAD
CBS	P35520	p.Ile143Thr	rs772225410	missense variant	-	NC_000021.9:g.43066266A>G	ExAC,gnomAD
CBS	P35520	p.Ile143Met	rs370167302	missense variant	-	NC_000021.9:g.43066265G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile143Met	rs370167302	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt,dbSNP
CBS	P35520	p.Ile143Met	VAR_021793	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt
CBS	P35520	p.Glu144Lys	rs121964966	missense variant	-	NC_000021.9:g.43066264C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Lys	rs121964966	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt,dbSNP
CBS	P35520	p.Glu144Lys	VAR_002177	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt
CBS	P35520	p.Glu144Gln	rs121964966	missense variant	-	NC_000021.9:g.43066264C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Lys	RCV000169074	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>T	ClinVar
CBS	P35520	p.Glu144Gln	RCV000538588	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>G	ClinVar
CBS	P35520	p.Pro145Leu	rs121964963	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt,dbSNP
CBS	P35520	p.Pro145Leu	VAR_002178	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt
CBS	P35520	p.Pro145Leu	rs121964963	missense variant	-	NC_000021.9:g.43066260G>A	gnomAD
CBS	P35520	p.Pro145Leu	RCV000000139	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066260G>A	ClinVar
CBS	P35520	p.Thr146Ile	rs1458998509	missense variant	-	NC_000021.9:g.43066257G>A	gnomAD
CBS	P35520	p.Gly148Arg	RCV000411624	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066252C>T	ClinVar
CBS	P35520	p.Gly148Arg	rs755952006	missense variant	-	NC_000021.9:g.43066252C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151Trp	rs373782713	missense variant	-	NC_000021.9:g.43066243C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151Arg	rs373782713	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt,dbSNP
CBS	P35520	p.Gly151Arg	VAR_008062	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt
CBS	P35520	p.Gly151Arg	rs373782713	missense variant	-	NC_000021.9:g.43066243C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151_Ala159del	VAR_008063	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile152Met	VAR_008064	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly153Arg	rs745704046	missense variant	-	NC_000021.9:g.43065690C>T	ExAC,gnomAD
CBS	P35520	p.Leu154Gln	VAR_046924	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala155Thr	rs1429138569	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt,dbSNP
CBS	P35520	p.Ala155Thr	VAR_008065	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt
CBS	P35520	p.Ala155Thr	rs1429138569	missense variant	-	NC_000021.9:g.43065684C>T	gnomAD
CBS	P35520	p.Ala155Val	VAR_046925	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Leu156Pro	rs780799772	missense variant	-	NC_000021.9:g.43065680A>G	ExAC,gnomAD
CBS	P35520	p.Leu156Ter	RCV000412346	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065680del	ClinVar
CBS	P35520	p.Ala157Thr	rs199817801	missense variant	-	NC_000021.9:g.43065678C>T	1000Genomes,gnomAD
CBS	P35520	p.Ala157Thr	RCV000527354	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065678C>T	ClinVar
CBS	P35520	p.Ala157Thr	RCV000242064	missense variant	-	NC_000021.9:g.43065678C>T	ClinVar
CBS	P35520	p.Ala158Glu	rs1376851289	missense variant	-	NC_000021.9:g.43065674G>T	gnomAD
CBS	P35520	p.Ala158Val	rs1376851289	missense variant	-	NC_000021.9:g.43065674G>A	gnomAD
CBS	P35520	p.Ala159Thr	rs1452995855	missense variant	-	NC_000021.9:g.43065672C>T	gnomAD
CBS	P35520	p.Gly162Ser	rs751064748	missense variant	-	NC_000021.9:g.43065663C>T	ExAC
CBS	P35520	p.Arg164His	rs757935417	missense variant	-	NC_000021.9:g.43065656C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg164Cys	rs1216829353	missense variant	-	NC_000021.9:g.43065657G>A	gnomAD
CBS	P35520	p.Cys165Ser	rs1234354755	missense variant	-	NC_000021.9:g.43065654A>T	gnomAD
CBS	P35520	p.Cys165Tyr	RCV000587735	missense variant	Homocystinuria	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Cys165Gly	RCV000704014	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065654A>C	ClinVar
CBS	P35520	p.Cys165Tyr	rs1347651454	missense variant	-	NC_000021.9:g.43065653C>T	gnomAD
CBS	P35520	p.Cys165Tyr	RCV000801652	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Cys165Tyr	RCV000619758	missense variant	-	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Ile167Met	rs754246295	missense variant	-	NC_000021.9:g.43065646G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Leu	rs121964970	missense variant	-	NC_000021.9:g.43065645C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	rs121964970	missense variant	-	NC_000021.9:g.43065645C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	RCV000250042	missense variant	-	NC_000021.9:g.43065645C>T	ClinVar
CBS	P35520	p.Val168Met	rs121964970	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt,dbSNP
CBS	P35520	p.Val168Met	VAR_002180	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt
CBS	P35520	p.Val168Met	RCV000000150	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43065645C>T	ClinVar
CBS	P35520	p.Val168Ala	VAR_046926	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met169Leu	rs1371228792	missense variant	-	NC_000021.9:g.43065642T>A	gnomAD
CBS	P35520	p.Met173Ile	rs750879576	missense variant	-	NC_000021.9:g.43065628C>T	ExAC,gnomAD
CBS	P35520	p.Met173del	VAR_066098	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met173Val	VAR_046927	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ser174Asn	rs1172978385	missense variant	-	NC_000021.9:g.43065626C>T	gnomAD
CBS	P35520	p.Glu176Ter	rs762065361	stop gained	-	NC_000021.9:g.43065621C>A	ExAC,gnomAD
CBS	P35520	p.Glu176Lys	rs762065361	missense variant	-	NC_000021.9:g.43065621C>T	ExAC,gnomAD
CBS	P35520	p.Glu176Lys	rs762065361	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt,dbSNP
CBS	P35520	p.Glu176Lys	VAR_008066	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt
CBS	P35520	p.Glu176Lys	RCV000781199	missense variant	Homocystinuria	NC_000021.9:g.43065621C>T	ClinVar
CBS	P35520	p.Lys177Thr	rs1472673650	missense variant	-	NC_000021.9:g.43065617T>G	gnomAD
CBS	P35520	p.Lys177Asn	RCV000478922	missense variant	-	NC_000021.9:g.43065616C>G	ClinVar
CBS	P35520	p.Lys177Asn	rs1064795022	missense variant	-	NC_000021.9:g.43065616C>G	gnomAD
CBS	P35520	p.Val178Leu	rs370843514	missense variant	-	NC_000021.9:g.43065521C>G	ESP,gnomAD
CBS	P35520	p.Val178Met	rs370843514	missense variant	-	NC_000021.9:g.43065521C>T	ESP,gnomAD
CBS	P35520	p.Val178Met	RCV000279590	missense variant	Homocystinuria	NC_000021.9:g.43065521C>T	ClinVar
CBS	P35520	p.Val180Ala	rs1555875010	missense variant	-	NC_000021.9:g.43065514A>G	-
CBS	P35520	p.Val180Ala	rs1555875010	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt,dbSNP
CBS	P35520	p.Val180Ala	VAR_008067	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt
CBS	P35520	p.Val180Ala	RCV000672889	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065514A>G	ClinVar
CBS	P35520	p.Val180Met	rs759402521	missense variant	-	NC_000021.9:g.43065515C>T	ExAC,gnomAD
CBS	P35520	p.Arg182Gln	rs138314784	missense variant	-	NC_000021.9:g.43065508C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Arg182Trp	rs149649130	missense variant	-	NC_000021.9:g.43065509G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala183Thr	rs772705832	missense variant	-	NC_000021.9:g.43065506C>T	ExAC,gnomAD
CBS	P35520	p.Ala183Val	rs374464810	missense variant	-	NC_000021.9:g.43065505G>A	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala183Gly	rs374464810	missense variant	-	NC_000021.9:g.43065505G>C	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala183Val	RCV000541664	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065505G>A	ClinVar
CBS	P35520	p.Ala183Val	RCV000251610	missense variant	-	NC_000021.9:g.43065505G>A	ClinVar
CBS	P35520	p.Glu187Gly	rs1435269264	missense variant	-	NC_000021.9:g.43065493T>C	gnomAD
CBS	P35520	p.Thr191Lys	rs121964973	missense variant	-	NC_000021.9:g.43065481G>T	TOPMed,gnomAD
CBS	P35520	p.Thr191Met	RCV000195441	missense variant	-	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Lys	RCV000497733	missense variant	-	NC_000021.9:g.43065481G>T	ClinVar
CBS	P35520	p.Thr191Met	RCV000589097	missense variant	Homocystinuria	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Met	RCV000576767	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Met	RCV000000155	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Met	rs121964973	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt,dbSNP
CBS	P35520	p.Thr191Met	VAR_008068	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt
CBS	P35520	p.Thr191Met	rs121964973	missense variant	-	NC_000021.9:g.43065481G>A	TOPMed,gnomAD
CBS	P35520	p.Pro192Leu	rs754553273	missense variant	-	NC_000021.9:g.43065478G>A	ExAC,gnomAD
CBS	P35520	p.Asn194Ser	rs911670352	missense variant	-	NC_000021.9:g.43065472T>C	TOPMed,gnomAD
CBS	P35520	p.Asn194Asp	rs370089875	missense variant	-	NC_000021.9:g.43065473T>C	ESP,ExAC,gnomAD
CBS	P35520	p.Arg196Ser	rs555751528	missense variant	-	NC_000021.9:g.43065465C>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asp198Asn	rs537027536	missense variant	-	NC_000021.9:g.43065461C>T	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asp198Val	VAR_008069	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ser199Phe	COSM3551224	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.43065457G>A	NCI-TCGA Cosmic
CBS	P35520	p.Pro200Leu	rs758712880	missense variant	-	NC_000021.9:g.43065454G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro200Leu	rs758712880	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt,dbSNP
CBS	P35520	p.Pro200Leu	VAR_066099	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt
CBS	P35520	p.Val204Met	rs372679328	missense variant	-	NC_000021.9:g.43065443C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val204Met	RCV000197936	missense variant	-	NC_000021.9:g.43065443C>T	ClinVar
CBS	P35520	p.Gly205Glu	rs1367873681	missense variant	-	NC_000021.9:g.43065439C>T	gnomAD
CBS	P35520	p.Val206Met	RCV000200147	missense variant	-	NC_000021.9:g.43065437C>T	ClinVar
CBS	P35520	p.Val206Ala	rs1369398275	missense variant	-	NC_000021.9:g.43065436A>G	gnomAD
CBS	P35520	p.Val206Met	rs369220569	missense variant	-	NC_000021.9:g.43065437C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val206Met	RCV000648123	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065437C>T	ClinVar
CBS	P35520	p.Ala207Thr	rs1462927996	missense variant	-	NC_000021.9:g.43065434C>T	gnomAD
CBS	P35520	p.Trp208Cys	rs774174074	missense variant	-	NC_000021.9:g.43065429C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Trp208Arg	rs1060500683	missense variant	-	NC_000021.9:g.43065431A>G	TOPMed,gnomAD
CBS	P35520	p.Trp208Ter	rs774174074	stop gained	-	NC_000021.9:g.43065429C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Trp208Arg	RCV000786286	missense variant	-	NC_000021.9:g.43065431A>G	ClinVar
CBS	P35520	p.Trp208Arg	RCV000457277	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065431A>G	ClinVar
CBS	P35520	p.Arg209Gln	rs781759129	missense variant	-	NC_000021.9:g.43065427C>T	ExAC,gnomAD
CBS	P35520	p.Arg209Trp	rs137939628	missense variant	-	NC_000021.9:g.43065428G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys211Arg	rs201118737	missense variant	-	NC_000021.9:g.43065421T>C	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asn212Lys	rs2298758	missense variant	-	NC_000021.9:g.43065417G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asn212Lys	RCV000196277	missense variant	-	NC_000021.9:g.43065417G>C	ClinVar
CBS	P35520	p.Glu213Gly	rs1481588195	missense variant	-	NC_000021.9:g.43065415T>C	TOPMed,gnomAD
CBS	P35520	p.Glu213Lys	rs758703098	missense variant	-	NC_000021.9:g.43065416C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro215Leu	rs1034007575	missense variant	-	NC_000021.9:g.43065409G>A	TOPMed
CBS	P35520	p.Pro215Ser	rs765471315	missense variant	-	NC_000021.9:g.43065410G>A	ExAC,gnomAD
CBS	P35520	p.Asn216Ser	rs755015303	missense variant	-	NC_000021.9:g.43065406T>C	ExAC,gnomAD
CBS	P35520	p.Ser217Phe	rs1555874874	missense variant	-	NC_000021.9:g.43065403G>A	-
CBS	P35520	p.Ser217Phe	RCV000673555	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065403G>A	ClinVar
CBS	P35520	p.Ile219Thr	rs1264692707	missense variant	-	NC_000021.9:g.43065397A>G	gnomAD
CBS	P35520	p.Gln222Ter	RCV000778918	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065389G>A	ClinVar
CBS	P35520	p.Tyr223Asp	rs1455474151	missense variant	-	NC_000021.9:g.43065272A>C	gnomAD
CBS	P35520	p.Arg224Leu	rs761647392	missense variant	-	NC_000021.9:g.43065268C>A	ExAC,gnomAD
CBS	P35520	p.Arg224Cys	RCV000556147	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224His	rs761647392	missense variant	-	NC_000021.9:g.43065268C>T	ExAC,gnomAD
CBS	P35520	p.Arg224His	rs761647392	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt,dbSNP
CBS	P35520	p.Arg224His	VAR_002181	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt
CBS	P35520	p.Arg224Cys	rs139456571	missense variant	-	NC_000021.9:g.43065269G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg224Cys	RCV000243693	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Cys	RCV000726462	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Ala226Thr	rs763835246	missense variant	-	NC_000021.9:g.43065263C>T	ExAC,gnomAD
CBS	P35520	p.Ala226Pro	rs763835246	missense variant	-	NC_000021.9:g.43065263C>G	ExAC,gnomAD
CBS	P35520	p.Ala226Thr	RCV000412334	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065263C>T	ClinVar
CBS	P35520	p.Asn228Ser	rs1555874803	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt,dbSNP
CBS	P35520	p.Asn228Ser	VAR_046928	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt
CBS	P35520	p.Asn228Ser	rs1555874803	missense variant	-	NC_000021.9:g.43065256T>C	-
CBS	P35520	p.Asn228Ser	RCV000669206	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065256T>C	ClinVar
CBS	P35520	p.Asn228Lys	rs1464223176	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt,dbSNP
CBS	P35520	p.Asn228Lys	VAR_021794	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt
CBS	P35520	p.Asn228Lys	rs1464223176	missense variant	-	NC_000021.9:g.43065255G>C	TOPMed,gnomAD
CBS	P35520	p.Pro229Arg	rs775293525	missense variant	-	NC_000021.9:g.43065253G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro229Thr	rs375730175	missense variant	-	NC_000021.9:g.43065254G>T	ESP,ExAC,gnomAD
CBS	P35520	p.Leu230Ter	RCV000169175	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065250del	ClinVar
CBS	P35520	p.Leu230Ter	RCV000198642	frameshift	-	NC_000021.9:g.43065250del	ClinVar
CBS	P35520	p.Leu230Gln	rs1411597530	missense variant	-	NC_000021.9:g.43065250A>T	TOPMed
CBS	P35520	p.Ala231Thr	NCI-TCGA novel	missense variant	-	NC_000021.9:g.43065248C>T	NCI-TCGA
CBS	P35520	p.Ala231Pro	VAR_046929	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp234Asn	rs773734233	missense variant	-	NC_000021.9:g.43065239C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp234Asn	RCV000586183	missense variant	Homocystinuria	NC_000021.9:g.43065239C>T	ClinVar
CBS	P35520	p.Asp234Asn	RCV000199941	missense variant	-	NC_000021.9:g.43065239C>T	ClinVar
CBS	P35520	p.Asp234del	VAR_046930	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr236Ile	rs981981270	missense variant	-	NC_000021.9:g.43065232G>A	TOPMed
CBS	P35520	p.Thr236Ter	RCV000409103	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065231_43065232delinsCACC	ClinVar
CBS	P35520	p.Ala237Thr	rs1226723382	missense variant	-	NC_000021.9:g.43065230C>T	gnomAD
CBS	P35520	p.Ala237Val	RCV000688536	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065229G>A	ClinVar
CBS	P35520	p.Asp238Ala	rs1364919198	missense variant	-	NC_000021.9:g.43065226T>G	gnomAD
CBS	P35520	p.Glu239Lys	VAR_002182	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gln242His	rs1388788227	missense variant	-	NC_000021.9:g.43065213C>A	gnomAD
CBS	P35520	p.Gln243His	rs749466749	missense variant	-	NC_000021.9:g.43065210C>G	ExAC,gnomAD
CBS	P35520	p.Gly246Glu	rs1441519122	missense variant	-	NC_000021.9:g.43063991C>T	gnomAD
CBS	P35520	p.Lys247_Gly256del	VAR_046931	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp249Asn	rs767397847	missense variant	-	NC_000021.9:g.43063983C>T	gnomAD
CBS	P35520	p.Met250Ile	rs863223431	missense variant	-	NC_000021.9:g.43063978C>T	gnomAD
CBS	P35520	p.Met250Lys	rs1555874564	missense variant	-	NC_000021.9:g.43063979A>T	-
CBS	P35520	p.Met250Leu	rs777884368	missense variant	-	NC_000021.9:g.43063980T>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Met250Lys	RCV000648121	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063979A>T	ClinVar
CBS	P35520	p.Met250Ile	RCV000800742	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063978C>T	ClinVar
CBS	P35520	p.Met250Ile	RCV000198250	missense variant	-	NC_000021.9:g.43063978C>T	ClinVar
CBS	P35520	p.Met250Ile	rs863223431	missense variant	-	NC_000021.9:g.43063978C>G	gnomAD
CBS	P35520	p.Leu251Pro	rs1176770868	missense variant	-	NC_000021.9:g.43063976A>G	gnomAD
CBS	P35520	p.Leu251Pro	RCV000671309	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063976A>G	ClinVar
CBS	P35520	p.Ser254Pro	rs1470764055	missense variant	-	NC_000021.9:g.43063968A>G	gnomAD
CBS	P35520	p.Val255Gly	rs1409259346	missense variant	-	NC_000021.9:g.43063964A>C	gnomAD
CBS	P35520	p.Gly256Ser	rs1000697114	missense variant	-	NC_000021.9:g.43063962C>T	TOPMed
CBS	P35520	p.Gly256Val	rs1157774154	missense variant	-	NC_000021.9:g.43063961C>A	gnomAD
CBS	P35520	p.Thr257Met	rs758236584	missense variant	-	NC_000021.9:g.43063958G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr257Met	RCV000169294	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063958G>A	ClinVar
CBS	P35520	p.Gly259Asp	rs1242898623	missense variant	-	NC_000021.9:g.43063952C>T	gnomAD
CBS	P35520	p.Gly259Ser	rs143124288	missense variant	-	NC_000021.9:g.43063953C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Gly259Ser	RCV000648118	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063953C>T	ClinVar
CBS	P35520	p.Thr262Met	RCV000200469	missense variant	-	NC_000021.9:g.43063943G>A	ClinVar
CBS	P35520	p.Thr262Met	rs149119723	missense variant	-	NC_000021.9:g.43063943G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr262Arg	VAR_021795	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile264Thr	rs760212248	missense variant	-	NC_000021.9:g.43063937A>G	ExAC,gnomAD
CBS	P35520	p.Ala265Val	rs1351478245	missense variant	-	NC_000021.9:g.43063934G>A	gnomAD
CBS	P35520	p.Arg266Lys	rs121964969	missense variant	-	NC_000021.9:g.43063931C>T	gnomAD
CBS	P35520	p.Arg266Lys	rs121964969	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt,dbSNP
CBS	P35520	p.Arg266Lys	VAR_008074	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt
CBS	P35520	p.Arg266Lys	RCV000469164	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063931C>T	ClinVar
CBS	P35520	p.Arg266Gly	VAR_008073	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys269del	VAR_074591	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu270Lys	rs1337180584	missense variant	-	NC_000021.9:g.43063920C>T	gnomAD
CBS	P35520	p.Glu270del	VAR_008075	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Cys272Ter	RCV000507871	nonsense	-	NC_000021.9:g.43063912A>T	ClinVar
CBS	P35520	p.Cys272Ter	RCV000673238	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063912A>T	ClinVar
CBS	P35520	p.Cys272Ter	rs528689432	stop gained	-	NC_000021.9:g.43063912A>T	-
CBS	P35520	p.Pro273Leu	rs1386009525	missense variant	-	NC_000021.9:g.43063910G>A	gnomAD
CBS	P35520	p.Cys275Ter	rs764638041	stop gained	-	NC_000021.9:g.43063903G>T	ExAC,gnomAD
CBS	P35520	p.Cys275Tyr	VAR_021796	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Arg276Lys	rs1400846504	missense variant	-	NC_000021.9:g.43063901C>T	gnomAD
CBS	P35520	p.Ile277Leu	rs756816076	missense variant	-	NC_000021.9:g.43063078T>G	ExAC
CBS	P35520	p.Ile278Thr	rs5742905	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt,dbSNP
CBS	P35520	p.Ile278Thr	VAR_002184	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt
CBS	P35520	p.Ile278Thr	rs5742905	missense variant	-	NC_000021.9:g.43063074A>G	1000Genomes,ESP,TOPMed
CBS	P35520	p.Ile278Thr	RCV000078111	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000781197	missense variant	Homocystinuria	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000249462	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000173640	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000507410	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000000142	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000000141	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Ser	VAR_066100	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly279Ter	RCV000508400	frameshift	-	NC_000021.9:g.43063075_43063076insTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGAT	ClinVar
CBS	P35520	p.Val280Ala	rs1170192852	missense variant	-	NC_000021.9:g.43063068A>G	gnomAD
CBS	P35520	p.Asp281Asn	VAR_066101	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro282ProSerArgTrpGlyPheCysTrpAlaTerAlaLeuLysProArgProLeuGlnIleIleGlyValAspUnk	rs1555874223	stop gained	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	-
CBS	P35520	p.Pro282ProLysGlyProSerSerGlnSerArgArgSerTerThrArgArgSerArgGlnProThrArgTrpAsnUnk	rs786200967	stop gained	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	-
CBS	P35520	p.Pro282Ser	RCV000413391	missense variant	-	NC_000021.9:g.43063063G>A	ClinVar
CBS	P35520	p.Pro282Ser	rs1057518515	missense variant	-	NC_000021.9:g.43063063G>A	-
CBS	P35520	p.Glu283SerArgTrpGlyPheCysTrpAlaTer	RCV000243626	nonsense	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	ClinVar
CBS	P35520	p.Glu283Lys	rs765811825	missense variant	-	NC_000021.9:g.43063060C>T	ExAC,gnomAD
CBS	P35520	p.Glu283LysGlyProSerSerGlnSerArgArgSerTer	RCV000152935	nonsense	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	ClinVar
CBS	P35520	p.Gly284Arg	rs1480171482	missense variant	-	NC_000021.9:g.43063057C>T	gnomAD
CBS	P35520	p.Ile286Val	rs147040567	missense variant	-	NC_000021.9:g.43063051T>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile286Thr	rs1060500681	missense variant	-	NC_000021.9:g.43063050A>G	-
CBS	P35520	p.Ile286Thr	RCV000477458	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063050A>G	ClinVar
CBS	P35520	p.Ile286Val	RCV000648120	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063051T>C	ClinVar
CBS	P35520	p.Ile286Val	RCV000731875	missense variant	-	NC_000021.9:g.43063051T>C	ClinVar
CBS	P35520	p.Ala288Thr	rs141502207	missense variant	-	NC_000021.9:g.43063045C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Ala288Thr	rs141502207	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt,dbSNP
CBS	P35520	p.Ala288Thr	VAR_046933	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt
CBS	P35520	p.Ala288Ser	rs141502207	missense variant	-	NC_000021.9:g.43063045C>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala288Thr	RCV000671575	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063045C>T	ClinVar
CBS	P35520	p.Ala288Pro	VAR_046932	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro290Gln	rs760912339	missense variant	-	NC_000021.9:g.43063038G>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro290Leu	rs760912339	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt,dbSNP
CBS	P35520	p.Pro290Leu	VAR_002185	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt
CBS	P35520	p.Pro290Leu	rs760912339	missense variant	-	NC_000021.9:g.43063038G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu291Asp	rs201155833	missense variant	-	NC_000021.9:g.43063034C>A	1000Genomes,TOPMed
CBS	P35520	p.Glu292Lys	rs761995096	missense variant	-	NC_000021.9:g.43063033C>T	ExAC,gnomAD
CBS	P35520	p.Glu292Val	rs774134517	missense variant	-	NC_000021.9:g.43063032T>A	ExAC,gnomAD
CBS	P35520	p.Glu292Ter	rs761995096	stop gained	-	NC_000021.9:g.43063033C>A	ExAC,gnomAD
CBS	P35520	p.Glu292Leu	rs1064795178	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	-
CBS	P35520	p.Glu292Leu	RCV000482632	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	ClinVar
CBS	P35520	p.Gln295Glu	rs562885611	missense variant	-	NC_000021.9:g.43063024G>C	1000Genomes,TOPMed
CBS	P35520	p.Thr296Arg	rs562530775	missense variant	-	NC_000021.9:g.43063020G>C	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Thr296Met	rs562530775	missense variant	-	NC_000021.9:g.43063020G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Thr296Met	RCV000558244	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063020G>A	ClinVar
CBS	P35520	p.Glu297Ter	rs1298089659	stop gained	-	NC_000021.9:g.43063018C>A	gnomAD
CBS	P35520	p.Thr300Ala	rs780856971	missense variant	-	NC_000021.9:g.43063009T>C	ExAC,gnomAD
CBS	P35520	p.Tyr301Ter	rs746575551	stop gained	-	NC_000021.9:g.43063004G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Tyr301Ter	RCV000411137	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063004G>C	ClinVar
CBS	P35520	p.Glu302Lys	rs779270933	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt,dbSNP
CBS	P35520	p.Glu302Lys	VAR_008076	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt
CBS	P35520	p.Glu302Lys	rs779270933	missense variant	-	NC_000021.9:g.43063003C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu302Lys	RCV000723460	missense variant	-	NC_000021.9:g.43063003C>T	ClinVar
CBS	P35520	p.Gly305Trp	rs1178687976	missense variant	-	NC_000021.9:g.43062994C>A	gnomAD
CBS	P35520	p.Gly305Arg	VAR_008077	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly307Ser	RCV000618753	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000173641	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000366433	missense variant	Homocystinuria	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000000137	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	rs121964962	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt,dbSNP
CBS	P35520	p.Gly307Ser	VAR_002186	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt
CBS	P35520	p.Gly307Ser	rs121964962	missense variant	-	NC_000021.9:g.43062988C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly307Ser	RCV000078112	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000000138	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Asp309Asn	rs540013184	missense variant	-	NC_000021.9:g.43062982C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile311Leu	rs1323813663	missense variant	-	NC_000021.9:g.43062976T>G	gnomAD
CBS	P35520	p.Pro312His	rs761787042	missense variant	-	NC_000021.9:g.43062972G>T	ExAC,gnomAD
CBS	P35520	p.Thr313Met	rs774557878	missense variant	-	NC_000021.9:g.43062969G>A	ExAC,gnomAD
CBS	P35520	p.Val314Met	rs762823766	missense variant	-	NC_000021.9:g.43062967C>T	ExAC,gnomAD
CBS	P35520	p.Val314Ala	rs1438933819	missense variant	-	NC_000021.9:g.43062966A>G	gnomAD
CBS	P35520	p.Arg317Gly	rs775432669	missense variant	-	NC_000021.9:g.43062958T>C	ExAC,gnomAD
CBS	P35520	p.Thr318Met	RCV000755893	missense variant	-	NC_000021.9:g.43062954G>A	ClinVar
CBS	P35520	p.Thr318Met	RCV000468076	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062954G>A	ClinVar
CBS	P35520	p.Thr318Met	rs769541394	missense variant	-	NC_000021.9:g.43062954G>A	ExAC,gnomAD
CBS	P35520	p.Val320Ala	rs781567152	missense variant	-	NC_000021.9:g.43062391A>G	ExAC,gnomAD
CBS	P35520	p.Val320Ala	rs781567152	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt,dbSNP
CBS	P35520	p.Val320Ala	VAR_008078	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt
CBS	P35520	p.Val320Ala	RCV000410016	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062391A>G	ClinVar
CBS	P35520	p.Val320Ala	RCV000780081	missense variant	Homocystinuria	NC_000021.9:g.43062391A>G	ClinVar
CBS	P35520	p.Asp321Gly	rs1225612737	missense variant	-	NC_000021.9:g.43062388T>C	gnomAD
CBS	P35520	p.Asp321Val	VAR_066102	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys322Thr	rs751768786	missense variant	-	NC_000021.9:g.43062385T>G	ExAC,gnomAD
CBS	P35520	p.Lys322Glu	rs757588995	missense variant	-	NC_000021.9:g.43062386T>C	ExAC,gnomAD
CBS	P35520	p.Trp323Ter	rs863223432	stop gained	-	NC_000021.9:g.43062381C>T	gnomAD
CBS	P35520	p.Trp323Ter	RCV000197013	nonsense	-	NC_000021.9:g.43062381C>T	ClinVar
CBS	P35520	p.Trp323Ter	RCV000363392	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062381C>T	ClinVar
CBS	P35520	p.Asp328Asn	rs758447354	missense variant	-	NC_000021.9:g.43062368C>T	ExAC,gnomAD
CBS	P35520	p.Asp328Asn	RCV000755891	missense variant	-	NC_000021.9:g.43062368C>T	ClinVar
CBS	P35520	p.Asp328Asn	RCV000665455	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062368C>T	ClinVar
CBS	P35520	p.Glu329Gly	rs1165948778	missense variant	-	NC_000021.9:g.43062364T>C	gnomAD
CBS	P35520	p.Glu329Asp	rs765151853	missense variant	-	NC_000021.9:g.43062363C>G	ExAC,gnomAD
CBS	P35520	p.Ala331Glu	rs777919630	missense variant	-	NC_000021.9:g.43062358G>T	TOPMed,gnomAD
CBS	P35520	p.Ala331Ser	rs1194877209	missense variant	-	NC_000021.9:g.43062359C>A	gnomAD
CBS	P35520	p.Ala331Val	rs777919630	missense variant	-	NC_000021.9:g.43062358G>A	TOPMed,gnomAD
CBS	P35520	p.Ala331Val	rs777919630	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt,dbSNP
CBS	P35520	p.Ala331Val	VAR_002187	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt
CBS	P35520	p.Ala331Glu	rs777919630	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt,dbSNP
CBS	P35520	p.Ala331Glu	VAR_008079	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt
CBS	P35520	p.Ala331Val	RCV000173977	missense variant	-	NC_000021.9:g.43062358G>A	ClinVar
CBS	P35520	p.Ala331Glu	RCV000547604	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062358G>T	ClinVar
CBS	P35520	p.AlaArg335AlaCys	rs1064793703	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	-
CBS	P35520	p.Arg336Ter	RCV000670102	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062340_43062343del	ClinVar
CBS	P35520	p.Arg336His	rs760417941	missense variant	-	NC_000021.9:g.43062343C>T	ExAC,gnomAD
CBS	P35520	p.Arg336His	rs760417941	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt,dbSNP
CBS	P35520	p.Arg336His	VAR_008080	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt
CBS	P35520	p.Arg336Cys	rs398123151	missense variant	-	NC_000021.9:g.43062344G>A	ExAC,gnomAD
CBS	P35520	p.Arg336Cys	RCV000078105	missense variant	-	NC_000021.9:g.43062344G>A	ClinVar
CBS	P35520	p.Arg336Cys	RCV000169310	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062344G>A	ClinVar
CBS	P35520	p.Arg336His	RCV000409189	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062343C>T	ClinVar
CBS	P35520	p.Arg336Cys	RCV000487415	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	ClinVar
CBS	P35520	p.Arg336Leu	rs760417941	missense variant	-	NC_000021.9:g.43062343C>A	ExAC,gnomAD
CBS	P35520	p.Met337Val	rs372822486	missense variant	-	NC_000021.9:g.43062341T>C	ESP,ExAC,gnomAD
CBS	P35520	p.Met337Val	RCV000196067	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
CBS	P35520	p.Met337Leu	RCV000199004	missense variant	-	NC_000021.9:g.43062341T>G	ClinVar
CBS	P35520	p.Met337Val	RCV000243887	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
CBS	P35520	p.Met337Arg	rs771910579	missense variant	-	NC_000021.9:g.43062340A>C	ExAC,gnomAD
CBS	P35520	p.Met337Leu	rs372822486	missense variant	-	NC_000021.9:g.43062341T>G	ESP,ExAC,gnomAD
CBS	P35520	p.Leu338Pro	VAR_021797	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala340Thr	rs1321607022	missense variant	-	NC_000021.9:g.43062332C>T	gnomAD
CBS	P35520	p.Ala340Val	rs1282760211	missense variant	-	NC_000021.9:g.43062331G>A	gnomAD
CBS	P35520	p.Gly347Ser	rs771298943	missense variant	-	NC_000021.9:g.43062311C>T	ExAC,gnomAD
CBS	P35520	p.Gly347Ser	RCV000197584	missense variant	-	NC_000021.9:g.43062311C>T	ClinVar
CBS	P35520	p.Gly347Cys	rs771298943	missense variant	-	NC_000021.9:g.43062311C>A	ExAC,gnomAD
CBS	P35520	p.Gly347Ser	RCV000780082	missense variant	Homocystinuria	NC_000021.9:g.43062311C>T	ClinVar
CBS	P35520	p.Ser349Gly	rs763890444	missense variant	-	NC_000021.9:g.43060541T>C	ExAC,gnomAD
CBS	P35520	p.Ser349Thr	rs973369208	missense variant	-	NC_000021.9:g.43060540C>G	TOPMed
CBS	P35520	p.Ser349Asn	VAR_021799	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala350Ser	rs762513900	missense variant	-	NC_000021.9:g.43060538C>A	ExAC,gnomAD
CBS	P35520	p.Ala350Val	rs1400722415	missense variant	-	NC_000021.9:g.43060537G>A	gnomAD
CBS	P35520	p.Gly351Asp	rs1160971811	missense variant	-	NC_000021.9:g.43060534C>T	gnomAD
CBS	P35520	p.Gly351Arg	rs774926464	missense variant	-	NC_000021.9:g.43060535C>G	ExAC,gnomAD
CBS	P35520	p.Gly351Arg	RCV000195902	missense variant	-	NC_000021.9:g.43060535C>G	ClinVar
CBS	P35520	p.Ser352Asn	VAR_008081	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr353Met	RCV000169466	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060528G>A	ClinVar
CBS	P35520	p.Thr353Met	rs121964972	missense variant	-	NC_000021.9:g.43060528G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr353Met	rs121964972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt,dbSNP
CBS	P35520	p.Thr353Met	VAR_008082	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt
CBS	P35520	p.Val354Ala	rs773726723	missense variant	-	NC_000021.9:g.43060525A>G	ExAC,gnomAD
CBS	P35520	p.Ala355Pro	rs1192581453	missense variant	-	NC_000021.9:g.43060523C>G	gnomAD
CBS	P35520	p.Ala355Val	RCV000598006	missense variant	-	NC_000021.9:g.43060522G>A	ClinVar
CBS	P35520	p.Ala355Thr	rs1192581453	missense variant	-	NC_000021.9:g.43060523C>T	gnomAD
CBS	P35520	p.Ala355Val	rs772384826	missense variant	-	NC_000021.9:g.43060522G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val356Ala	rs370163789	missense variant	-	NC_000021.9:g.43060519A>G	gnomAD
CBS	P35520	p.Val356Gly	rs370163789	missense variant	-	NC_000021.9:g.43060519A>C	gnomAD
CBS	P35520	p.Val356Met	rs1220129204	missense variant	-	NC_000021.9:g.43060520C>T	gnomAD
CBS	P35520	p.Val356Ala	RCV000618875	missense variant	-	NC_000021.9:g.43060519A>G	ClinVar
CBS	P35520	p.Ala357Thr	rs1292263120	missense variant	-	NC_000021.9:g.43060517C>T	gnomAD
CBS	P35520	p.Ala357Gly	rs863223437	missense variant	-	NC_000021.9:g.43060516G>C	TOPMed,gnomAD
CBS	P35520	p.Ala357Val	rs863223437	missense variant	-	NC_000021.9:g.43060516G>A	TOPMed,gnomAD
CBS	P35520	p.Ala357Gly	RCV000473415	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060516G>C	ClinVar
CBS	P35520	p.Ala357Gly	RCV000199512	missense variant	-	NC_000021.9:g.43060516G>C	ClinVar
CBS	P35520	p.Val358Leu	rs148589243	missense variant	-	NC_000021.9:g.43060514C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val358Met	RCV000474043	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Val358Met	rs148589243	missense variant	-	NC_000021.9:g.43060514C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val358Met	RCV000199585	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Val358Met	RCV000420634	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Lys359Asn	rs1300646763	missense variant	-	NC_000021.9:g.43060509C>G	gnomAD
CBS	P35520	p.Lys359Met	rs779940364	missense variant	-	NC_000021.9:g.43060510T>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala360Thr	rs1423323590	missense variant	-	NC_000021.9:g.43060508C>T	gnomAD
CBS	P35520	p.AlaAla360AlaThr	rs1555873407	missense variant	-	NC_000021.9:g.43060505_43060506delinsTA	-
CBS	P35520	p.Ala360Asp	rs1365464994	missense variant	-	NC_000021.9:g.43060507G>T	gnomAD
CBS	P35520	p.Ala360Val	rs1365464994	missense variant	-	NC_000021.9:g.43060507G>A	gnomAD
CBS	P35520	p.Ala361Val	rs370851632	missense variant	-	NC_000021.9:g.43060504G>A	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala361Thr	RCV000648114	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060505_43060506delinsTA	ClinVar
CBS	P35520	p.Ala361Thr	rs745764562	missense variant	-	NC_000021.9:g.43060505C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala361Thr	rs745764562	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt,dbSNP
CBS	P35520	p.Ala361Thr	VAR_046934	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt
CBS	P35520	p.Ala361Val	RCV000576355	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060504G>A	ClinVar
CBS	P35520	p.Glu363Ter	RCV000482968	frameshift	-	NC_000021.9:g.43060500del	ClinVar
CBS	P35520	p.Glu363Lys	rs1478217276	missense variant	-	NC_000021.9:g.43060499C>T	gnomAD
CBS	P35520	p.Leu364Pro	rs1265455165	missense variant	-	NC_000021.9:g.43060495A>G	gnomAD
CBS	P35520	p.Glu366Lys	rs757098275	missense variant	-	NC_000021.9:g.43060490C>T	ExAC,gnomAD
CBS	P35520	p.Gly367Ser	rs1269436351	missense variant	-	NC_000021.9:g.43060487C>T	gnomAD
CBS	P35520	p.Arg369Cys	rs117687681	missense variant	-	NC_000021.9:g.43060481G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg369Pro	rs11700812	missense variant	-	NC_000021.9:g.43060480C>G	ExAC,gnomAD
CBS	P35520	p.Arg369Cys	RCV000231839	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060481G>A	ClinVar
CBS	P35520	p.Arg369Cys	RCV000242755	missense variant	-	NC_000021.9:g.43060481G>A	ClinVar
CBS	P35520	p.Arg369His	rs11700812	missense variant	-	NC_000021.9:g.43060480C>T	ExAC,gnomAD
CBS	P35520	p.Cys370Tyr	rs757920190	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt,dbSNP
CBS	P35520	p.Cys370Tyr	VAR_008085	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt
CBS	P35520	p.Cys370Tyr	rs757920190	missense variant	-	NC_000021.9:g.43060477C>T	ExAC,gnomAD
CBS	P35520	p.Cys370Arg	rs1192694513	missense variant	-	NC_000021.9:g.43060478A>G	gnomAD
CBS	P35520	p.Cys370Tyr	RCV000482454	missense variant	-	NC_000021.9:g.43060477C>T	ClinVar
CBS	P35520	p.Val371Met	RCV000196393	missense variant	-	NC_000021.9:g.43060475C>T	ClinVar
CBS	P35520	p.Val371Leu	rs372010465	missense variant	-	NC_000021.9:g.43060475C>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val371Met	rs372010465	missense variant	-	NC_000021.9:g.43060475C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val371Met	rs372010465	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt,dbSNP
CBS	P35520	p.Val371Met	VAR_002190	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt
CBS	P35520	p.Val372Phe	rs775354680	missense variant	-	NC_000021.9:g.43060472C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val372Ile	rs775354680	missense variant	-	NC_000021.9:g.43060472C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val372Phe	RCV000200072	missense variant	-	NC_000021.9:g.43060472C>A	ClinVar
CBS	P35520	p.Asp376Asn	rs1170128038	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt,dbSNP
CBS	P35520	p.Asp376Asn	VAR_046935	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt
CBS	P35520	p.Asp376Asn	rs1170128038	missense variant	-	NC_000021.9:g.43060460C>T	gnomAD
CBS	P35520	p.Ser377Thr	rs920511437	missense variant	-	NC_000021.9:g.43060457A>T	TOPMed
CBS	P35520	p.Val378Leu	rs547713475	missense variant	-	NC_000021.9:g.43060454C>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Arg379Trp	rs769080151	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt,dbSNP
CBS	P35520	p.Arg379Trp	VAR_046936	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt
CBS	P35520	p.Arg379Gln	RCV000169171	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060450C>T	ClinVar
CBS	P35520	p.Arg379Trp	rs769080151	missense variant	-	NC_000021.9:g.43060451G>A	ExAC,gnomAD
CBS	P35520	p.Arg379Gln	rs763036586	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt,dbSNP
CBS	P35520	p.Arg379Gln	VAR_021801	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt
CBS	P35520	p.Arg379Gln	rs763036586	missense variant	-	NC_000021.9:g.43060450C>T	ExAC,gnomAD
CBS	P35520	p.Arg379Trp	RCV000763061	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060451G>A	ClinVar
CBS	P35520	p.Thr383Ile	RCV000701888	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059301G>A	ClinVar
CBS	P35520	p.Lys384Glu	rs121964967	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt,dbSNP
CBS	P35520	p.Lys384Glu	VAR_002191	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt
CBS	P35520	p.Lys384Glu	rs121964967	missense variant	-	NC_000021.9:g.43059299T>C	-
CBS	P35520	p.Lys384Glu	RCV000000145	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43059299T>C	ClinVar
CBS	P35520	p.Lys384Asn	VAR_008086	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp388Asn	rs375513996	missense variant	-	NC_000021.9:g.43059287C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp388Gly	rs1421332904	missense variant	-	NC_000021.9:g.43059286T>C	gnomAD
CBS	P35520	p.Asp388Tyr	rs375513996	missense variant	-	NC_000021.9:g.43059287C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg389Thr	RCV000620693	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
CBS	P35520	p.Arg389Thr	RCV000596015	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
CBS	P35520	p.Arg389Lys	rs1383178636	missense variant	-	NC_000021.9:g.43059283C>T	gnomAD
CBS	P35520	p.Arg389Thr	rs1383178636	missense variant	-	NC_000021.9:g.43059283C>G	gnomAD
CBS	P35520	p.Met391Ile	VAR_008087	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys394Arg	rs1424033329	missense variant	-	NC_000021.9:g.43059268T>C	gnomAD
CBS	P35520	p.Gly395Val	rs1257759867	missense variant	-	NC_000021.9:g.43059265C>A	gnomAD
CBS	P35520	p.Glu399Lys	rs1485255027	missense variant	-	NC_000021.9:g.43059254C>T	gnomAD
CBS	P35520	p.Leu402Ile	rs763217939	missense variant	-	NC_000021.9:g.43059245G>T	ExAC,gnomAD
CBS	P35520	p.Leu402Pro	rs371214833	missense variant	-	NC_000021.9:g.43059244A>G	ESP,ExAC,gnomAD
CBS	P35520	p.Leu402Pro	RCV000555545	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059244A>G	ClinVar
CBS	P35520	p.Thr403Met	rs886042297	missense variant	-	NC_000021.9:g.43059241G>A	gnomAD
CBS	P35520	p.Thr403Met	RCV000372121	missense variant	-	NC_000021.9:g.43059241G>A	ClinVar
CBS	P35520	p.Glu404Asp	rs376942014	missense variant	-	NC_000021.9:g.43059237C>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys405Gln	rs570121873	missense variant	-	NC_000021.9:g.43059236T>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Lys405Ter	rs570121873	stop gained	-	NC_000021.9:g.43059236T>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Lys406Arg	rs766523013	missense variant	-	NC_000021.9:g.43059232T>C	ExAC,gnomAD
CBS	P35520	p.Lys406Gln	rs992398873	missense variant	-	NC_000021.9:g.43059233T>G	TOPMed,gnomAD
CBS	P35520	p.Lys406Ter	RCV000174443	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059231del	ClinVar
CBS	P35520	p.Lys406Ter	RCV000724407	frameshift	-	NC_000021.9:g.43059231del	ClinVar
CBS	P35520	p.Trp408Ter	RCV000666270	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059230del	ClinVar
CBS	P35520	p.Trp408Ter	rs863223433	stop gained	-	NC_000021.9:g.43059226C>T	-
CBS	P35520	p.Trp408Cys	rs1445695397	missense variant	-	NC_000021.9:g.43058968C>A	gnomAD
CBS	P35520	p.Trp408Ter	RCV000196138	nonsense	-	NC_000021.9:g.43059226C>T	ClinVar
CBS	P35520	p.Trp408Ter	RCV000588547	frameshift	Homocystinuria	NC_000021.9:g.43059230del	ClinVar
CBS	P35520	p.Trp409Ter	rs376916741	stop gained	-	NC_000021.9:g.43058966C>T	ExAC,gnomAD
CBS	P35520	p.Trp409Ter	rs1332950288	stop gained	-	NC_000021.9:g.43058965C>T	gnomAD
CBS	P35520	p.Trp409Leu	rs376916741	missense variant	-	NC_000021.9:g.43058966C>A	ExAC,gnomAD
CBS	P35520	p.Trp410Ter	rs1467814360	stop gained	-	NC_000021.9:g.43058962C>T	gnomAD
CBS	P35520	p.His411Asn	rs1404697104	missense variant	-	NC_000021.9:g.43058961G>T	gnomAD
CBS	P35520	p.Arg413His	rs574577579	missense variant	-	NC_000021.9:g.43058954C>T	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Arg413Cys	rs767595472	missense variant	-	NC_000021.9:g.43058955G>A	ExAC,gnomAD
CBS	P35520	p.Val414Ile	rs1379816380	missense variant	-	NC_000021.9:g.43058952C>T	gnomAD
CBS	P35520	p.Gln415Arg	rs1180174934	missense variant	-	NC_000021.9:g.43058948T>C	gnomAD
CBS	P35520	p.Glu416Gln	rs751477766	missense variant	-	NC_000021.9:g.43058946C>G	ExAC,gnomAD
CBS	P35520	p.Gly418Asp	rs1460109011	missense variant	-	NC_000021.9:g.43058939C>T	gnomAD
CBS	P35520	p.Gly418Ser	rs1200734227	missense variant	-	NC_000021.9:g.43058940C>T	gnomAD
CBS	P35520	p.Gly418Val	rs1460109011	missense variant	-	NC_000021.9:g.43058939C>A	gnomAD
CBS	P35520	p.Ala421Asp	rs886039021	missense variant	-	NC_000021.9:g.43058930G>T	gnomAD
CBS	P35520	p.Ala421Asp	RCV000248108	missense variant	-	NC_000021.9:g.43058930G>T	ClinVar
CBS	P35520	p.Pro422Leu	rs28934892	missense variant	-	NC_000021.9:g.43058927G>A	gnomAD
CBS	P35520	p.Pro422Leu	rs28934892	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt,dbSNP
CBS	P35520	p.Pro422Leu	VAR_021802	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt
CBS	P35520	p.Pro422Leu	RCV000000152	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058927G>A	ClinVar
CBS	P35520	p.Val425Leu	rs138211175	missense variant	-	NC_000021.9:g.43058919C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val425Met	rs138211175	missense variant	-	NC_000021.9:g.43058919C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val425Met	RCV000620815	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Val425Met	RCV000554628	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Val425Met	RCV000592999	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Leu426Phe	rs1311066540	missense variant	-	NC_000021.9:g.43058916G>A	gnomAD
CBS	P35520	p.Pro427Leu	rs863223434	missense variant	-	NC_000021.9:g.43058912G>A	gnomAD
CBS	P35520	p.Pro427Ser	rs1450044796	missense variant	-	NC_000021.9:g.43058913G>A	gnomAD
CBS	P35520	p.Pro427Leu	RCV000584030	missense variant	-	NC_000021.9:g.43058912G>A	ClinVar
CBS	P35520	p.Thr428Asn	rs776175674	missense variant	-	NC_000021.9:g.43058909G>T	ExAC,gnomAD
CBS	P35520	p.Ile429Val	rs1405061619	missense variant	-	NC_000021.9:g.43058907T>C	gnomAD
CBS	P35520	p.Thr430Ala	rs947698557	missense variant	-	NC_000021.9:g.43058904T>C	TOPMed
CBS	P35520	p.Cys431Tyr	rs1381340460	missense variant	-	NC_000021.9:g.43058900C>T	gnomAD
CBS	P35520	p.Gly432Arg	rs1180854779	missense variant	-	NC_000021.9:g.43058898C>T	gnomAD
CBS	P35520	p.His433Pro	rs1237063529	missense variant	-	NC_000021.9:g.43058894T>G	gnomAD
CBS	P35520	p.Thr434Asn	rs1555872506	missense variant	-	NC_000021.9:g.43058891G>T	-
CBS	P35520	p.Thr434Asn	rs1555872506	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt,dbSNP
CBS	P35520	p.Thr434Asn	VAR_008088	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt
CBS	P35520	p.Thr434Asn	RCV000667146	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058891G>T	ClinVar
CBS	P35520	p.Ile435Asn	rs1282119406	missense variant	-	NC_000021.9:g.43058888A>T	gnomAD
CBS	P35520	p.Ile435Thr	RCV000666335	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058888A>G	ClinVar
CBS	P35520	p.Ile435Thr	rs1282119406	missense variant	-	NC_000021.9:g.43058888A>G	gnomAD
CBS	P35520	p.Ile435Thr	VAR_008089	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu436Lys	rs1354271840	missense variant	-	NC_000021.9:g.43058886C>T	gnomAD
CBS	P35520	p.Leu438Phe	rs1243421704	missense variant	-	NC_000021.9:g.43058880G>A	gnomAD
CBS	P35520	p.Arg439Gln	rs756467921	missense variant	-	NC_000021.9:g.43058876C>T	ExAC,gnomAD
CBS	P35520	p.Arg439Trp	rs780508029	missense variant	-	NC_000021.9:g.43058877G>A	ExAC,gnomAD
CBS	P35520	p.Arg439Gln	RCV000169494	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058876C>T	ClinVar
CBS	P35520	p.Glu440Gln	rs1449634173	missense variant	-	NC_000021.9:g.43058874C>G	gnomAD
CBS	P35520	p.Lys441Ter	rs1057516645	stop gained	-	NC_000021.9:g.43058871T>A	-
CBS	P35520	p.Lys441Ter	RCV000412412	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058871T>A	ClinVar
CBS	P35520	p.Gly442Asp	rs1324151005	missense variant	-	NC_000021.9:g.43058867C>T	gnomAD
CBS	P35520	p.Asp444Asn	RCV000174656	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058862C>T	ClinVar
CBS	P35520	p.Asp444Asn	rs28934891	missense variant	-	NC_000021.9:g.43058862C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp444Asn	rs28934891	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt,dbSNP
CBS	P35520	p.Asp444Asn	VAR_002192	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt
CBS	P35520	p.Ala446Thr	rs1413430493	missense variant	-	NC_000021.9:g.43058856C>T	gnomAD
CBS	P35520	p.Ala446Val	rs757347527	missense variant	-	NC_000021.9:g.43058855G>A	ExAC,gnomAD
CBS	P35520	p.Ala446Ser	VAR_066103	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro447Thr	rs764165836	missense variant	-	NC_000021.9:g.43058853G>T	ExAC,gnomAD
CBS	P35520	p.Val448Leu	rs865989946	missense variant	-	NC_000021.9:g.43058850C>A	TOPMed,gnomAD
CBS	P35520	p.Val448Met	rs865989946	missense variant	-	NC_000021.9:g.43058850C>T	TOPMed,gnomAD
CBS	P35520	p.Val448Met	RCV000490064	missense variant	-	NC_000021.9:g.43058850C>T	ClinVar
CBS	P35520	p.Val449Gly	VAR_074593	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu451Asp	RCV000198168	missense variant	-	NC_000021.9:g.43058839C>G	ClinVar
CBS	P35520	p.Glu451Asp	RCV000764259	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058839C>G	ClinVar
CBS	P35520	p.Glu451Gly	rs1220059415	missense variant	-	NC_000021.9:g.43058840T>C	gnomAD
CBS	P35520	p.Glu451Asp	rs367962613	missense variant	-	NC_000021.9:g.43058839C>G	ESP,ExAC,gnomAD
CBS	P35520	p.Ala452Val	rs201585750	missense variant	-	NC_000021.9:g.43058837G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala452Glu	rs201585750	missense variant	-	NC_000021.9:g.43058837G>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly453Trp	rs886057099	missense variant	-	NC_000021.9:g.43058835C>A	gnomAD
CBS	P35520	p.Gly453Glu	rs886039146	missense variant	-	NC_000021.9:g.43058834C>T	gnomAD
CBS	P35520	p.Gly453Arg	rs886057099	missense variant	-	NC_000021.9:g.43058835C>T	gnomAD
CBS	P35520	p.Gly453Trp	RCV000339973	missense variant	Homocystinuria	NC_000021.9:g.43058835C>A	ClinVar
CBS	P35520	p.Gly453Glu	RCV000248732	missense variant	-	NC_000021.9:g.43058834C>T	ClinVar
CBS	P35520	p.Val454Ala	rs1398459455	missense variant	-	NC_000021.9:g.43058251A>G	gnomAD
CBS	P35520	p.Val454Glu	VAR_002193	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile455Asn	rs751797189	missense variant	-	NC_000021.9:g.43058248A>T	ExAC,gnomAD
CBS	P35520	p.Leu456Pro	VAR_021803	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met458Thr	rs758500477	missense variant	-	NC_000021.9:g.43058239A>G	ExAC,gnomAD
CBS	P35520	p.Thr460Met	rs752596508	missense variant	-	NC_000021.9:g.43058233G>A	ExAC,gnomAD
CBS	P35520	p.Leu461Phe	rs902200637	missense variant	-	NC_000021.9:g.43058231G>A	TOPMed
CBS	P35520	p.Met464Thr	rs141428279	missense variant	-	NC_000021.9:g.43058221A>G	ESP,ExAC
CBS	P35520	p.Ser466Leu	rs121964971	missense variant	-	NC_000021.9:g.43058215G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser466Leu	rs121964971	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt,dbSNP
CBS	P35520	p.Ser466Leu	VAR_008091	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt
CBS	P35520	p.Ser466Leu	RCV000000153	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058215G>A	ClinVar
CBS	P35520	p.Ser467Phe	rs1237233267	missense variant	-	NC_000021.9:g.43058212G>A	gnomAD
CBS	P35520	p.Gly471Arg	rs201098477	missense variant	-	NC_000021.9:g.43058201C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly471Arg	RCV000200328	missense variant	-	NC_000021.9:g.43058201C>T	ClinVar
CBS	P35520	p.Gly471Arg	RCV000764258	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058201C>T	ClinVar
CBS	P35520	p.Gln474Ter	rs562625029	stop gained	-	NC_000021.9:g.43058192G>A	1000Genomes
CBS	P35520	p.Pro475Leu	rs367711379	missense variant	-	NC_000021.9:g.43058188G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp477Glu	RCV000617298	missense variant	-	NC_000021.9:g.43058181G>T	ClinVar
CBS	P35520	p.Asp477Glu	rs1555871920	missense variant	-	NC_000021.9:g.43058181G>T	-
CBS	P35520	p.Val479Ala	rs886038933	missense variant	-	NC_000021.9:g.43058176A>G	gnomAD
CBS	P35520	p.Val479Ala	RCV000253951	missense variant	-	NC_000021.9:g.43058176A>G	ClinVar
CBS	P35520	p.Ile483Thr	rs746393838	missense variant	-	NC_000021.9:g.43058164A>G	ExAC,gnomAD
CBS	P35520	p.Tyr484Phe	rs1555871913	missense variant	-	NC_000021.9:g.43058161T>A	-
CBS	P35520	p.Tyr484Phe	RCV000557667	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>A	ClinVar
CBS	P35520	p.Tyr484Cys	rs1555871913	missense variant	-	NC_000021.9:g.43058161T>C	-
CBS	P35520	p.Tyr484Cys	RCV000648119	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>C	ClinVar
CBS	P35520	p.Lys485Glu	rs886057098	missense variant	-	NC_000021.9:g.43058159T>C	-
CBS	P35520	p.Lys485Glu	RCV000403386	missense variant	Homocystinuria	NC_000021.9:g.43058159T>C	ClinVar
CBS	P35520	p.Arg491His	RCV000483442	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
CBS	P35520	p.Arg491Cys	rs1339830457	missense variant	-	NC_000021.9:g.43056884G>A	gnomAD
CBS	P35520	p.Arg491His	rs747419767	missense variant	-	NC_000021.9:g.43056883C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg491His	RCV000249170	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
CBS	P35520	p.Thr493Met	rs996249907	missense variant	-	NC_000021.9:g.43056877G>A	TOPMed,gnomAD
CBS	P35520	p.Thr495Met	RCV000482429	missense variant	-	NC_000021.9:g.43056871G>A	ClinVar
CBS	P35520	p.Thr495Ala	rs1292687681	missense variant	-	NC_000021.9:g.43056872T>C	gnomAD
CBS	P35520	p.Thr495Lys	rs772344567	missense variant	-	NC_000021.9:g.43056871G>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr495Met	rs772344567	missense variant	-	NC_000021.9:g.43056871G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr495Met	RCV000463603	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056871G>A	ClinVar
CBS	P35520	p.Ser500Leu	rs755106884	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt,dbSNP
CBS	P35520	p.Ser500Leu	VAR_074594	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt
CBS	P35520	p.Ser500Leu	rs755106884	missense variant	-	NC_000021.9:g.43056856G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser500Ter	RCV000593857	frameshift	-	NC_000021.9:g.43056857_43056858AG[1]	ClinVar
CBS	P35520	p.Leu503Val	rs1265746216	missense variant	-	NC_000021.9:g.43056848G>C	gnomAD
CBS	P35520	p.Met505Ile	rs200613751	missense variant	-	NC_000021.9:g.43056840C>T	1000Genomes,gnomAD
CBS	P35520	p.Asp506Asn	rs1317348103	missense variant	-	NC_000021.9:g.43056839C>T	gnomAD
CBS	P35520	p.Ala509Val	rs794727161	missense variant	-	NC_000021.9:g.43056829G>A	-
CBS	P35520	p.Ala509Thr	rs1060500680	missense variant	-	NC_000021.9:g.43056830C>T	TOPMed,gnomAD
CBS	P35520	p.Ala509Thr	RCV000467733	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056830C>T	ClinVar
CBS	P35520	p.Ala509Val	RCV000174986	missense variant	-	NC_000021.9:g.43056829G>A	ClinVar
CBS	P35520	p.Val511Met	rs1387121972	missense variant	-	NC_000021.9:g.43056824C>T	gnomAD
CBS	P35520	p.His513Gln	rs187828882	missense variant	-	NC_000021.9:g.43056816G>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.His513Arg	rs1328834710	missense variant	-	NC_000021.9:g.43056817T>C	gnomAD
CBS	P35520	p.His513Gln	RCV000424660	missense variant	-	NC_000021.9:g.43056816G>C	ClinVar
CBS	P35520	p.Glu514Gln	rs145228319	missense variant	-	NC_000021.9:g.43056815C>G	ESP,ExAC,gnomAD
CBS	P35520	p.Glu514Lys	rs145228319	missense variant	-	NC_000021.9:g.43056815C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Gln515Ter	rs1463986810	stop gained	-	NC_000021.9:g.43056812G>A	gnomAD
CBS	P35520	p.Ile516Ter	RCV000669346	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056810del	ClinVar
CBS	P35520	p.Gln517His	rs750311684	missense variant	-	NC_000021.9:g.43056804C>G	ExAC,gnomAD
CBS	P35520	p.Tyr518His	rs1198678305	missense variant	-	NC_000021.9:g.43056803A>G	gnomAD
CBS	P35520	p.Gly522Arg	rs201916339	missense variant	-	NC_000021.9:g.43053972C>T	ExAC,gnomAD
CBS	P35520	p.Lys523Ter	RCV000169113	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053972del	ClinVar
CBS	P35520	p.Ser524Pro	rs747984710	missense variant	-	NC_000021.9:g.43053966A>G	ExAC,gnomAD
CBS	P35520	p.Ser525Asn	rs1359693246	missense variant	-	NC_000021.9:g.43053962C>T	gnomAD
CBS	P35520	p.Gln526Ter	RCV000672976	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053960G>A	ClinVar
CBS	P35520	p.Gln526Ter	rs1555869958	stop gained	-	NC_000021.9:g.43053960G>A	-
CBS	P35520	p.Gln526Lys	VAR_046937	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Arg527Trp	rs1455031864	missense variant	-	NC_000021.9:g.43053957G>A	gnomAD
CBS	P35520	p.Phe531Leu	rs768230991	missense variant	-	NC_000021.9:g.43053943G>T	ExAC,gnomAD
CBS	P35520	p.Gly532Arg	rs748953468	missense variant	-	NC_000021.9:g.43053942C>T	ExAC,gnomAD
CBS	P35520	p.Gly532Arg	RCV000594688	missense variant	-	NC_000021.9:g.43053942C>T	ClinVar
CBS	P35520	p.Gly532Arg	RCV000696029	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053942C>T	ClinVar
CBS	P35520	p.Val533Leu	RCV000703932	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053939C>A	ClinVar
CBS	P35520	p.Val534Ile	rs779569366	missense variant	-	NC_000021.9:g.43053936C>T	ExAC,gnomAD
CBS	P35520	p.Val534Asp	VAR_008093	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr535Ter	RCV000666158	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053933_43053934del	ClinVar
CBS	P35520	p.Ala536Thr	rs747522167	missense variant	-	NC_000021.9:g.43053930C>T	ExAC,gnomAD
CBS	P35520	p.Leu539Ser	rs121964968	missense variant	-	NC_000021.9:g.43053920A>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Leu539Ser	rs121964968	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt,dbSNP
CBS	P35520	p.Leu539Ser	VAR_002194	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt
CBS	P35520	p.Leu539Ser	RCV000675072	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053920A>G	ClinVar
CBS	P35520	p.Leu540Gln	VAR_074595	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Val543Met	rs753183931	missense variant	-	NC_000021.9:g.43053909C>T	ExAC,gnomAD
CBS	P35520	p.Ala545Ser	rs139651937	missense variant	-	NC_000021.9:g.43053903C>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala545Gly	rs754031824	missense variant	-	NC_000021.9:g.43053902G>C	ExAC,gnomAD
CBS	P35520	p.Arg548Trp	rs766444814	missense variant	-	NC_000021.9:g.43053894G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg548Gln	RCV000227198	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053893C>T	ClinVar
CBS	P35520	p.Arg548Gln	rs150828989	missense variant	-	NC_000021.9:g.43053893C>T	UniProt,dbSNP
CBS	P35520	p.Arg548Gln	VAR_046938	missense variant	-	NC_000021.9:g.43053893C>T	UniProt
CBS	P35520	p.Arg548Gln	rs150828989	missense variant	-	NC_000021.9:g.43053893C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ter552Cys	rs1365095601	stop lost	-	NC_000021.9:g.43053880T>G	gnomAD
CBS	P35520	p.Ter552Gly	rs767500762	stop lost	-	NC_000021.9:g.43053882A>C	ExAC,gnomAD
CBS	P35520	p.Ter552Cys	RCV000674493	stop lost	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053880T>G	ClinVar
CBS	P35520	p.Met1Thr	RCV000176975	missense variant	-	NC_000021.9:g.43072192A>G	ClinVar
CBS	P35520	p.Pro2Leu	rs546530618	missense variant	-	NC_000021.9:g.43072189G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro2Leu	RCV000200313	missense variant	-	NC_000021.9:g.43072189G>A	ClinVar
CBS	P35520	p.Glu4Asp	rs748832676	missense variant	-	NC_000021.9:g.43072182C>G	ExAC
CBS	P35520	p.Pro6Ser	rs528184368	missense variant	-	NC_000021.9:g.43072178G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Gln7Ter	RCV000409151	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072180dup	ClinVar
CBS	P35520	p.Gln7Ter	RCV000478091	frameshift	-	NC_000021.9:g.43072180dup	ClinVar
CBS	P35520	p.Ala8Gly	rs919403971	missense variant	-	NC_000021.9:g.43072171G>C	TOPMed,gnomAD
CBS	P35520	p.Glu9Gln	rs758092887	missense variant	-	NC_000021.9:g.43072169C>G	ExAC,gnomAD
CBS	P35520	p.Glu9Lys	rs758092887	missense variant	-	NC_000021.9:g.43072169C>T	ExAC,gnomAD
CBS	P35520	p.Glu9Ter	RCV000409242	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072161_43072179del	ClinVar
CBS	P35520	p.Val10Met	rs1479837105	missense variant	-	NC_000021.9:g.43072166C>T	gnomAD
CBS	P35520	p.Val10Ter	RCV000279971	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072166del	ClinVar
CBS	P35520	p.Val10Ter	RCV000723446	frameshift	-	NC_000021.9:g.43072166del	ClinVar
CBS	P35520	p.Gly11Arg	rs1205411379	missense variant	-	NC_000021.9:g.43072163C>T	gnomAD
CBS	P35520	p.Pro12Ser	RCV000704996	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072160G>A	ClinVar
CBS	P35520	p.Pro12Ser	rs558259739	missense variant	-	NC_000021.9:g.43072160G>A	ExAC,gnomAD
CBS	P35520	p.Gly14Val	rs1371674515	missense variant	-	NC_000021.9:g.43072153C>A	gnomAD
CBS	P35520	p.Cys15Phe	rs750850447	missense variant	-	NC_000021.9:g.43072150C>A	ExAC,gnomAD
CBS	P35520	p.His17Leu	rs768172160	missense variant	-	NC_000021.9:g.43072144T>A	ExAC
CBS	P35520	p.Arg18His	rs755850396	missense variant	-	NC_000021.9:g.43072141C>T	gnomAD
CBS	P35520	p.Arg18Ser	rs201827340	missense variant	-	NC_000021.9:g.43072142G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg18Cys	rs201827340	missense variant	-	NC_000021.9:g.43072142G>A	UniProt,dbSNP
CBS	P35520	p.Arg18Cys	VAR_046921	missense variant	-	NC_000021.9:g.43072142G>A	UniProt
CBS	P35520	p.Arg18Cys	rs201827340	missense variant	-	NC_000021.9:g.43072142G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg18Cys	RCV000251012	missense variant	-	NC_000021.9:g.43072142G>A	ClinVar
CBS	P35520	p.Ser19Leu	rs764399291	missense variant	-	NC_000021.9:g.43072138G>A	ExAC,gnomAD
CBS	P35520	p.His22Arg	RCV000197426	missense variant	-	NC_000021.9:g.43072129T>C	ClinVar
CBS	P35520	p.His22Arg	RCV000648122	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072129T>C	ClinVar
CBS	P35520	p.His22Arg	rs763151207	missense variant	-	NC_000021.9:g.43072129T>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser23Leu	rs775785018	missense variant	-	NC_000021.9:g.43072126G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser23Thr	rs1378750597	missense variant	-	NC_000021.9:g.43072127A>T	gnomAD
CBS	P35520	p.Ala24Val	rs759682004	missense variant	-	NC_000021.9:g.43072123G>A	ExAC,gnomAD
CBS	P35520	p.Lys25Asn	rs1484147890	missense variant	-	NC_000021.9:g.43072119C>A	gnomAD
CBS	P35520	p.Gly26Glu	rs746782366	missense variant	-	NC_000021.9:g.43072117C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly26Ala	rs746782366	missense variant	-	NC_000021.9:g.43072117C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser27Arg	rs530296903	missense variant	-	NC_000021.9:g.43072113G>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser27Ile	rs771748290	missense variant	-	NC_000021.9:g.43072114C>A	ExAC,gnomAD
CBS	P35520	p.Ser27Asn	rs771748290	missense variant	-	NC_000021.9:g.43072114C>T	ExAC,gnomAD
CBS	P35520	p.Glu29Lys	rs778653743	missense variant	-	NC_000021.9:g.43072109C>T	ExAC
CBS	P35520	p.Gly31Glu	rs1226779462	missense variant	-	NC_000021.9:g.43072102C>T	gnomAD
CBS	P35520	p.Ser32Pro	rs753430439	missense variant	-	NC_000021.9:g.43072100A>G	ExAC,gnomAD
CBS	P35520	p.Pro33Ser	rs563211474	missense variant	-	NC_000021.9:g.43072097G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Glu34Gly	rs757899237	missense variant	-	NC_000021.9:g.43072093T>C	ExAC,gnomAD
CBS	P35520	p.Asp35Tyr	rs368471318	missense variant	-	NC_000021.9:g.43072091C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp35Asn	rs368471318	missense variant	-	NC_000021.9:g.43072091C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys36Glu	rs904453895	missense variant	-	NC_000021.9:g.43072088T>C	TOPMed,gnomAD
CBS	P35520	p.Lys36Glu	RCV000617634	missense variant	-	NC_000021.9:g.43072088T>C	ClinVar
CBS	P35520	p.Ala38Pro	rs1064795253	missense variant	-	NC_000021.9:g.43072082C>G	gnomAD
CBS	P35520	p.Ala38Thr	rs1064795253	missense variant	-	NC_000021.9:g.43072082C>T	gnomAD
CBS	P35520	p.Ala38Thr	RCV000483422	missense variant	-	NC_000021.9:g.43072082C>T	ClinVar
CBS	P35520	p.Glu40Asp	rs764487170	missense variant	-	NC_000021.9:g.43072074C>A	ExAC,gnomAD
CBS	P35520	p.Pro41Ser	rs763389870	missense variant	-	NC_000021.9:g.43072073G>A	ExAC,gnomAD
CBS	P35520	p.Pro41Leu	rs1315746924	missense variant	-	NC_000021.9:g.43072072G>A	gnomAD
CBS	P35520	p.Trp43Cys	rs1375321603	missense variant	-	NC_000021.9:g.43072065C>A	gnomAD
CBS	P35520	p.Ile44Met	rs1334019279	missense variant	-	NC_000021.9:g.43072062G>C	gnomAD
CBS	P35520	p.Arg45Gln	RCV000620035	missense variant	-	NC_000021.9:g.43072060C>T	ClinVar
CBS	P35520	p.Arg45Trp	rs201372812	missense variant	-	NC_000021.9:g.43072061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg45Gln	rs759502207	missense variant	-	NC_000021.9:g.43072060C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg45Gln	RCV000229516	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072060C>T	ClinVar
CBS	P35520	p.Arg45Trp	RCV000198945	missense variant	-	NC_000021.9:g.43072061G>A	ClinVar
CBS	P35520	p.Pro49Leu	rs148865119	missense variant	-	NC_000021.9:g.43072048G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro49Arg	rs148865119	missense variant	-	NC_000021.9:g.43072048G>C	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro49Leu	RCV000242293	missense variant	-	NC_000021.9:g.43072048G>A	ClinVar
CBS	P35520	p.Arg51Lys	RCV000486724	missense variant	-	NC_000021.9:g.43072042C>T	ClinVar
CBS	P35520	p.Arg51Lys	rs370983323	missense variant	-	NC_000021.9:g.43072042C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Arg51Ser	rs748795053	missense variant	-	NC_000021.9:g.43072041C>A	ExAC,gnomAD
CBS	P35520	p.Arg51Ter	RCV000674825	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072033_43072045del	ClinVar
CBS	P35520	p.Cys52Tyr	rs779777933	missense variant	-	NC_000021.9:g.43072039C>T	ExAC,gnomAD
CBS	P35520	p.Cys52Tyr	RCV000648117	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072039C>T	ClinVar
CBS	P35520	p.Trp54Ter	rs199948079	stop gained	-	NC_000021.9:g.43072032C>T	-
CBS	P35520	p.Trp54Ter	RCV000409663	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072032C>T	ClinVar
CBS	P35520	p.Gln55Lys	rs1292304665	missense variant	-	NC_000021.9:g.43072031G>T	gnomAD
CBS	P35520	p.Leu56Pro	rs1180472259	missense variant	-	NC_000021.9:g.43072027A>G	gnomAD
CBS	P35520	p.Gly57Ser	rs1480938544	missense variant	-	NC_000021.9:g.43072025C>T	gnomAD
CBS	P35520	p.Arg58Trp	rs555959266	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt,dbSNP
CBS	P35520	p.Arg58Trp	VAR_008050	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt
CBS	P35520	p.Arg58Trp	rs555959266	missense variant	-	NC_000021.9:g.43072022G>A	ExAC,gnomAD
CBS	P35520	p.Arg58Gln	rs758648251	missense variant	-	NC_000021.9:g.43072021C>T	ExAC,gnomAD
CBS	P35520	p.Pro59Ser	rs376496085	missense variant	-	NC_000021.9:g.43072019G>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala60Val	rs765352771	missense variant	-	NC_000021.9:g.43072015G>A	ExAC,gnomAD
CBS	P35520	p.Ser61Pro	rs1392721766	missense variant	-	NC_000021.9:g.43072013A>G	gnomAD
CBS	P35520	p.Glu62Lys	rs199507134	missense variant	-	NC_000021.9:g.43072010C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.His65Arg	rs1191141364	missense variant	-	NC_000021.9:g.43072000T>C	gnomAD
CBS	P35520	p.His67Tyr	rs1248573959	missense variant	-	NC_000021.9:g.43071995G>A	gnomAD
CBS	P35520	p.Thr68Ile	rs760770298	missense variant	-	NC_000021.9:g.43071991G>A	ExAC,gnomAD
CBS	P35520	p.Ala69Pro	rs17849313	missense variant	-	NC_000021.9:g.43071989C>G	-
CBS	P35520	p.Ala69Pro	rs17849313	missense variant	-	NC_000021.9:g.43071989C>G	UniProt,dbSNP
CBS	P35520	p.Ala69Pro	VAR_046922	missense variant	-	NC_000021.9:g.43071989C>G	UniProt
CBS	P35520	p.Pro70Arg	rs2229413	missense variant	-	NC_000021.9:g.43071985G>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro70Leu	rs2229413	missense variant	-	NC_000021.9:g.43071985G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro70Leu	RCV000199276	missense variant	-	NC_000021.9:g.43071985G>A	ClinVar
CBS	P35520	p.Ala71Glu	rs761878715	missense variant	-	NC_000021.9:g.43068613G>T	ExAC,gnomAD
CBS	P35520	p.Ala71Val	rs761878715	missense variant	-	NC_000021.9:g.43068613G>A	ExAC,gnomAD
CBS	P35520	p.Lys72Ile	rs192232907	missense variant	-	NC_000021.9:g.43068610T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys72Ile	RCV000547149	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068610T>A	ClinVar
CBS	P35520	p.Ser73Cys	rs763892068	missense variant	-	NC_000021.9:g.43068607G>C	ExAC,gnomAD
CBS	P35520	p.Pro74Ser	rs1170538361	missense variant	-	NC_000021.9:g.43068605G>A	gnomAD
CBS	P35520	p.Pro74Leu	rs762862715	missense variant	-	NC_000021.9:g.43068604G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro74Leu	RCV000621470	missense variant	-	NC_000021.9:g.43068604G>A	ClinVar
CBS	P35520	p.Lys75Asn	rs552179536	missense variant	-	NC_000021.9:g.43068600T>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Pro78Arg	rs786204608	missense variant	-	NC_000021.9:g.43068592G>C	gnomAD
CBS	P35520	p.Pro78Arg	rs786204608	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt,dbSNP
CBS	P35520	p.Pro78Arg	VAR_002171	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt
CBS	P35520	p.Pro78Arg	RCV000169367	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068592G>C	ClinVar
CBS	P35520	p.Ile80Val	rs769608918	missense variant	-	NC_000021.9:g.43068587T>C	ExAC,gnomAD
CBS	P35520	p.Leu81Val	rs1480481730	missense variant	-	NC_000021.9:g.43068584G>C	TOPMed
CBS	P35520	p.Lys82Asn	rs71322504	missense variant	-	NC_000021.9:g.43068579C>A	ExAC,gnomAD
CBS	P35520	p.Lys82Asn	rs71322504	missense variant	-	NC_000021.9:g.43068579C>G	ExAC,gnomAD
CBS	P35520	p.Gly85Arg	rs863223435	missense variant	-	NC_000021.9:g.43068572C>T	gnomAD
CBS	P35520	p.Gly85Arg	RCV000195506	missense variant	-	NC_000021.9:g.43068572C>T	ClinVar
CBS	P35520	p.Asp86Asn	rs776259258	missense variant	-	NC_000021.9:g.43068569C>T	ExAC,gnomAD
CBS	P35520	p.Thr87Ile	rs1239864776	missense variant	-	NC_000021.9:g.43068565G>A	gnomAD
CBS	P35520	p.Thr87Asn	VAR_074590	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro88Ser	VAR_002172	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met89Lys	rs772450760	missense variant	-	NC_000021.9:g.43068559A>T	ExAC,gnomAD
CBS	P35520	p.Met89Ile	rs748617584	missense variant	-	NC_000021.9:g.43068558C>A	ExAC,gnomAD
CBS	P35520	p.Lys94Asn	rs779297627	missense variant	-	NC_000021.9:g.43068543C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile95Thr	rs1347662650	missense variant	-	NC_000021.9:g.43068541A>G	TOPMed,gnomAD
CBS	P35520	p.Ile95Asn	rs1347662650	missense variant	-	NC_000021.9:g.43068541A>T	TOPMed,gnomAD
CBS	P35520	p.Ile95Thr	RCV000557426	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068541A>G	ClinVar
CBS	P35520	p.Phe99Tyr	rs112029370	missense variant	-	NC_000021.9:g.43068529A>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Leu	rs749697783	missense variant	-	NC_000021.9:g.43068528G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Ser	rs112029370	missense variant	-	NC_000021.9:g.43068529A>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Tyr	RCV000459701	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068529A>T	ClinVar
CBS	P35520	p.Phe99Tyr	RCV000497848	missense variant	-	NC_000021.9:g.43068529A>T	ClinVar
CBS	P35520	p.Phe99Leu	RCV000229409	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068528G>C	ClinVar
CBS	P35520	p.Gly100Ser	rs1310019343	missense variant	-	NC_000021.9:g.43068527C>T	TOPMed,gnomAD
CBS	P35520	p.Leu101Val	RCV000310277	missense variant	Homocystinuria	NC_000021.9:g.43068524G>C	ClinVar
CBS	P35520	p.Leu101Val	rs369644531	missense variant	-	NC_000021.9:g.43068524G>C	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Leu101Pro	RCV000169617	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068523A>G	ClinVar
CBS	P35520	p.Leu101Pro	rs786204757	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt,dbSNP
CBS	P35520	p.Leu101Pro	VAR_021791	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt
CBS	P35520	p.Leu101Pro	rs786204757	missense variant	-	NC_000021.9:g.43068523A>G	TOPMed
CBS	P35520	p.Lys102Gln	RCV000394063	missense variant	Homocystinuria	NC_000021.9:g.43068521T>G	ClinVar
CBS	P35520	p.Lys102Asn	rs786204609	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt,dbSNP
CBS	P35520	p.Lys102Asn	VAR_002173	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt
CBS	P35520	p.Lys102Asn	rs786204609	missense variant	-	NC_000021.9:g.43068519C>G	gnomAD
CBS	P35520	p.Lys102Gln	rs34040148	missense variant	-	NC_000021.9:g.43068521T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys102Asn	RCV000169368	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068519C>G	ClinVar
CBS	P35520	p.Cys109Arg	rs778220779	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt,dbSNP
CBS	P35520	p.Cys109Arg	VAR_021792	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt
CBS	P35520	p.Cys109Arg	rs778220779	missense variant	-	NC_000021.9:g.43066369A>G	TOPMed,gnomAD
CBS	P35520	p.Cys109Arg	RCV000535881	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066369A>G	ClinVar
CBS	P35520	p.Ala114Thr	RCV000493781	missense variant	-	NC_000021.9:g.43066354C>T	ClinVar
CBS	P35520	p.Ala114Thr	rs377708532	missense variant	-	NC_000021.9:g.43066354C>T	ExAC,gnomAD
CBS	P35520	p.Ala114Val	rs121964964	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt,dbSNP
CBS	P35520	p.Ala114Val	VAR_002174	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt
CBS	P35520	p.Ala114Val	rs121964964	missense variant	-	NC_000021.9:g.43066353G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala114Gly	rs121964964	missense variant	-	NC_000021.9:g.43066353G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala114Ser	rs377708532	missense variant	-	NC_000021.9:g.43066354C>A	ExAC,gnomAD
CBS	P35520	p.Ala114Val	RCV000490533	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066353G>A	ClinVar
CBS	P35520	p.Gly116Arg	rs760214620	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt,dbSNP
CBS	P35520	p.Gly116Arg	VAR_008053	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt
CBS	P35520	p.Gly116Arg	rs760214620	missense variant	-	NC_000021.9:g.43066348C>T	ExAC,gnomAD
CBS	P35520	p.Gly116Arg	RCV000169116	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066348C>T	ClinVar
CBS	P35520	p.Ser117Ile	rs772768738	missense variant	-	NC_000021.9:g.43066344C>A	ExAC,gnomAD
CBS	P35520	p.Val118Met	rs763385546	missense variant	-	NC_000021.9:g.43066342C>T	ExAC,gnomAD
CBS	P35520	p.Val118Met	RCV000368495	missense variant	Homocystinuria	NC_000021.9:g.43066342C>T	ClinVar
CBS	P35520	p.Asp120Asn	rs1251292223	missense variant	-	NC_000021.9:g.43066336C>T	gnomAD
CBS	P35520	p.Arg121Leu	rs770095972	missense variant	-	NC_000021.9:g.43066332C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg121Cys	rs775992753	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt,dbSNP
CBS	P35520	p.Arg121Cys	VAR_008054	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt
CBS	P35520	p.Arg121Cys	rs775992753	missense variant	-	NC_000021.9:g.43066333G>A	ExAC,gnomAD
CBS	P35520	p.Arg121His	rs770095972	missense variant	-	NC_000021.9:g.43066332C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg121Cys	RCV000196859	missense variant	-	NC_000021.9:g.43066333G>A	ClinVar
CBS	P35520	p.Arg121His	rs770095972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt,dbSNP
CBS	P35520	p.Arg121His	VAR_008055	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt
CBS	P35520	p.Arg121Leu	rs770095972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt,dbSNP
CBS	P35520	p.Arg121Leu	VAR_008056	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt
CBS	P35520	p.Arg121His	RCV000169322	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>T	ClinVar
CBS	P35520	p.Arg121Leu	RCV000190373	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>A	ClinVar
CBS	P35520	p.Ser123Arg	rs1555875387	missense variant	-	NC_000021.9:g.43066325G>T	-
CBS	P35520	p.Ser123Arg	RCV000550221	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066325G>T	ClinVar
CBS	P35520	p.Leu124Arg	rs746251495	missense variant	-	NC_000021.9:g.43066323A>C	ExAC,gnomAD
CBS	P35520	p.Arg125Trp	rs886057100	missense variant	-	NC_000021.9:g.43066321G>A	gnomAD
CBS	P35520	p.Arg125Gln	rs781444670	missense variant	-	NC_000021.9:g.43066320C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg125Gln	rs781444670	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt,dbSNP
CBS	P35520	p.Arg125Gln	VAR_002175	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt
CBS	P35520	p.Arg125Gln	RCV000178709	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320C>T	ClinVar
CBS	P35520	p.Arg125Trp	RCV000667483	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066321G>A	ClinVar
CBS	P35520	p.Arg125Pro	VAR_046923	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met126Ter	RCV000669819	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320_43066323dup	ClinVar
CBS	P35520	p.Met126Val	VAR_008058	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile127Thr	rs771108045	missense variant	-	NC_000021.9:g.43066314A>G	ExAC,gnomAD
CBS	P35520	p.Ile127Val	rs892948151	missense variant	-	NC_000021.9:g.43066315T>C	TOPMed,gnomAD
CBS	P35520	p.Glu128Asp	rs374593242	missense variant	-	NC_000021.9:g.43066310C>G	ExAC,gnomAD
CBS	P35520	p.Glu128Lys	rs1308193541	missense variant	-	NC_000021.9:g.43066312C>T	gnomAD
CBS	P35520	p.Asp129Val	rs1373078731	missense variant	-	NC_000021.9:g.43066308T>A	gnomAD
CBS	P35520	p.Ala130Val	rs1301672360	missense variant	-	NC_000021.9:g.43066305G>A	gnomAD
CBS	P35520	p.Ala130Val	RCV000622233	missense variant	-	NC_000021.9:g.43066305G>A	ClinVar
CBS	P35520	p.Glu131Asp	RCV000534364	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066301C>G	ClinVar
CBS	P35520	p.Glu131Lys	rs1360154930	missense variant	-	NC_000021.9:g.43066303C>T	gnomAD
CBS	P35520	p.Glu131Asp	rs1555875351	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt,dbSNP
CBS	P35520	p.Glu131Asp	VAR_002176	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt
CBS	P35520	p.Glu131Asp	rs1555875351	missense variant	-	NC_000021.9:g.43066301C>G	-
CBS	P35520	p.Arg132Cys	RCV000620847	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Cys	RCV000726351	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132His	rs779011920	missense variant	-	NC_000021.9:g.43066299C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Ser	rs140002610	missense variant	-	NC_000021.9:g.43066300G>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	rs140002610	missense variant	-	NC_000021.9:g.43066300G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	RCV000460928	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132His	RCV000462847	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066299C>T	ClinVar
CBS	P35520	p.Arg132Cys	RCV000195820	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Ser	RCV000247887	missense variant	-	NC_000021.9:g.43066300G>T	ClinVar
CBS	P35520	p.Asp133Asn	RCV000243532	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
CBS	P35520	p.Asp133Asn	RCV000198043	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
CBS	P35520	p.Asp133Asn	rs539326697	missense variant	-	NC_000021.9:g.43066297C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	RCV000648115	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>G	ClinVar
CBS	P35520	p.Gly134Arg	RCV000469139	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>T	ClinVar
CBS	P35520	p.Gly134Arg	RCV000196511	missense variant	-	NC_000021.9:g.43066294C>T	ClinVar
CBS	P35520	p.Gly134Ala	rs766958673	missense variant	-	NC_000021.9:g.43066293C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Ala	RCV000198867	missense variant	-	NC_000021.9:g.43066293C>G	ClinVar
CBS	P35520	p.Gly134Glu	rs766958673	missense variant	-	NC_000021.9:g.43066293C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	rs147474549	missense variant	-	NC_000021.9:g.43066294C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	rs147474549	missense variant	-	NC_000021.9:g.43066294C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr135Ter	RCV000674577	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290_43066291delinsC	ClinVar
CBS	P35520	p.Thr135Met	RCV000549296	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290G>A	ClinVar
CBS	P35520	p.Thr135Met	rs144832032	missense variant	-	NC_000021.9:g.43066290G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr135Ter	RCV000411736	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294del	ClinVar
CBS	P35520	p.Leu136Pro	rs775937459	missense variant	-	NC_000021.9:g.43066287A>G	ExAC,gnomAD
CBS	P35520	p.Pro138Ala	rs765702034	missense variant	-	NC_000021.9:g.43066282G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro138Ser	rs765702034	missense variant	-	NC_000021.9:g.43066282G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly139Arg	RCV000000143	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066279C>T	ClinVar
CBS	P35520	p.Gly139Arg	rs121964965	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt,dbSNP
CBS	P35520	p.Gly139Arg	VAR_008060	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt
CBS	P35520	p.Gly139Arg	rs121964965	missense variant	-	NC_000021.9:g.43066279C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr141Met	rs771178320	missense variant	-	NC_000021.9:g.43066272G>A	ExAC,gnomAD
CBS	P35520	p.Ile143Thr	rs772225410	missense variant	-	NC_000021.9:g.43066266A>G	ExAC,gnomAD
CBS	P35520	p.Ile143Met	rs370167302	missense variant	-	NC_000021.9:g.43066265G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile143Met	rs370167302	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt,dbSNP
CBS	P35520	p.Ile143Met	VAR_021793	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt
CBS	P35520	p.Glu144Lys	rs121964966	missense variant	-	NC_000021.9:g.43066264C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Lys	rs121964966	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt,dbSNP
CBS	P35520	p.Glu144Lys	VAR_002177	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt
CBS	P35520	p.Glu144Gln	rs121964966	missense variant	-	NC_000021.9:g.43066264C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Gln	RCV000538588	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>G	ClinVar
CBS	P35520	p.Glu144Lys	RCV000169074	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>T	ClinVar
CBS	P35520	p.Pro145Leu	rs121964963	missense variant	-	NC_000021.9:g.43066260G>A	gnomAD
CBS	P35520	p.Pro145Leu	rs121964963	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt,dbSNP
CBS	P35520	p.Pro145Leu	VAR_002178	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt
CBS	P35520	p.Pro145Leu	RCV000000139	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066260G>A	ClinVar
CBS	P35520	p.Thr146Ile	rs1458998509	missense variant	-	NC_000021.9:g.43066257G>A	gnomAD
CBS	P35520	p.Gly148Arg	RCV000411624	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066252C>T	ClinVar
CBS	P35520	p.Gly148Arg	rs755952006	missense variant	-	NC_000021.9:g.43066252C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151Trp	rs373782713	missense variant	-	NC_000021.9:g.43066243C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151Arg	rs373782713	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt,dbSNP
CBS	P35520	p.Gly151Arg	VAR_008062	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt
CBS	P35520	p.Gly151Arg	rs373782713	missense variant	-	NC_000021.9:g.43066243C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151_Ala159del	VAR_008063	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile152Met	VAR_008064	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly153Arg	rs745704046	missense variant	-	NC_000021.9:g.43065690C>T	ExAC,gnomAD
CBS	P35520	p.Leu154Gln	VAR_046924	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala155Thr	rs1429138569	missense variant	-	NC_000021.9:g.43065684C>T	gnomAD
CBS	P35520	p.Ala155Thr	rs1429138569	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt,dbSNP
CBS	P35520	p.Ala155Thr	VAR_008065	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt
CBS	P35520	p.Ala155Val	VAR_046925	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Leu156Pro	rs780799772	missense variant	-	NC_000021.9:g.43065680A>G	ExAC,gnomAD
CBS	P35520	p.Leu156Ter	RCV000412346	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065680del	ClinVar
CBS	P35520	p.Ala157Thr	RCV000527354	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065678C>T	ClinVar
CBS	P35520	p.Ala157Thr	RCV000242064	missense variant	-	NC_000021.9:g.43065678C>T	ClinVar
CBS	P35520	p.Ala157Thr	rs199817801	missense variant	-	NC_000021.9:g.43065678C>T	1000Genomes,gnomAD
CBS	P35520	p.Ala158Glu	rs1376851289	missense variant	-	NC_000021.9:g.43065674G>T	gnomAD
CBS	P35520	p.Ala158Val	rs1376851289	missense variant	-	NC_000021.9:g.43065674G>A	gnomAD
CBS	P35520	p.Ala159Thr	rs1452995855	missense variant	-	NC_000021.9:g.43065672C>T	gnomAD
CBS	P35520	p.Gly162Ser	rs751064748	missense variant	-	NC_000021.9:g.43065663C>T	ExAC
CBS	P35520	p.Arg164His	rs757935417	missense variant	-	NC_000021.9:g.43065656C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg164Cys	rs1216829353	missense variant	-	NC_000021.9:g.43065657G>A	gnomAD
CBS	P35520	p.Cys165Gly	RCV000704014	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065654A>C	ClinVar
CBS	P35520	p.Cys165Ser	rs1234354755	missense variant	-	NC_000021.9:g.43065654A>T	gnomAD
CBS	P35520	p.Cys165Tyr	RCV000587735	missense variant	Homocystinuria	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Cys165Tyr	rs1347651454	missense variant	-	NC_000021.9:g.43065653C>T	gnomAD
CBS	P35520	p.Cys165Tyr	RCV000619758	missense variant	-	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Cys165Tyr	RCV000801652	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Ile167Met	rs754246295	missense variant	-	NC_000021.9:g.43065646G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	RCV000250042	missense variant	-	NC_000021.9:g.43065645C>T	ClinVar
CBS	P35520	p.Val168Leu	rs121964970	missense variant	-	NC_000021.9:g.43065645C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	rs121964970	missense variant	-	NC_000021.9:g.43065645C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	rs121964970	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt,dbSNP
CBS	P35520	p.Val168Met	VAR_002180	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt
CBS	P35520	p.Val168Met	RCV000000150	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43065645C>T	ClinVar
CBS	P35520	p.Val168Ala	VAR_046926	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met169Leu	rs1371228792	missense variant	-	NC_000021.9:g.43065642T>A	gnomAD
CBS	P35520	p.Met173Ile	rs750879576	missense variant	-	NC_000021.9:g.43065628C>T	ExAC,gnomAD
CBS	P35520	p.Met173del	VAR_066098	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met173Val	VAR_046927	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ser174Asn	rs1172978385	missense variant	-	NC_000021.9:g.43065626C>T	gnomAD
CBS	P35520	p.Glu176Ter	rs762065361	stop gained	-	NC_000021.9:g.43065621C>A	ExAC,gnomAD
CBS	P35520	p.Glu176Lys	rs762065361	missense variant	-	NC_000021.9:g.43065621C>T	ExAC,gnomAD
CBS	P35520	p.Glu176Lys	rs762065361	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt,dbSNP
CBS	P35520	p.Glu176Lys	VAR_008066	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt
CBS	P35520	p.Glu176Lys	RCV000781199	missense variant	Homocystinuria	NC_000021.9:g.43065621C>T	ClinVar
CBS	P35520	p.Lys177Thr	rs1472673650	missense variant	-	NC_000021.9:g.43065617T>G	gnomAD
CBS	P35520	p.Lys177Asn	RCV000478922	missense variant	-	NC_000021.9:g.43065616C>G	ClinVar
CBS	P35520	p.Lys177Asn	rs1064795022	missense variant	-	NC_000021.9:g.43065616C>G	gnomAD
CBS	P35520	p.Val178Leu	rs370843514	missense variant	-	NC_000021.9:g.43065521C>G	ESP,gnomAD
CBS	P35520	p.Val178Met	RCV000279590	missense variant	Homocystinuria	NC_000021.9:g.43065521C>T	ClinVar
CBS	P35520	p.Val178Met	rs370843514	missense variant	-	NC_000021.9:g.43065521C>T	ESP,gnomAD
CBS	P35520	p.Val180Ala	rs1555875010	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt,dbSNP
CBS	P35520	p.Val180Ala	VAR_008067	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt
CBS	P35520	p.Val180Ala	rs1555875010	missense variant	-	NC_000021.9:g.43065514A>G	-
CBS	P35520	p.Val180Ala	RCV000672889	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065514A>G	ClinVar
CBS	P35520	p.Val180Met	rs759402521	missense variant	-	NC_000021.9:g.43065515C>T	ExAC,gnomAD
CBS	P35520	p.Arg182Gln	rs138314784	missense variant	-	NC_000021.9:g.43065508C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Arg182Trp	rs149649130	missense variant	-	NC_000021.9:g.43065509G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala183Thr	rs772705832	missense variant	-	NC_000021.9:g.43065506C>T	ExAC,gnomAD
CBS	P35520	p.Ala183Gly	rs374464810	missense variant	-	NC_000021.9:g.43065505G>C	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala183Val	rs374464810	missense variant	-	NC_000021.9:g.43065505G>A	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala183Val	RCV000541664	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065505G>A	ClinVar
CBS	P35520	p.Ala183Val	RCV000251610	missense variant	-	NC_000021.9:g.43065505G>A	ClinVar
CBS	P35520	p.Glu187Gly	rs1435269264	missense variant	-	NC_000021.9:g.43065493T>C	gnomAD
CBS	P35520	p.Thr191Met	RCV000576767	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Met	RCV000589097	missense variant	Homocystinuria	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Met	RCV000195441	missense variant	-	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Lys	RCV000497733	missense variant	-	NC_000021.9:g.43065481G>T	ClinVar
CBS	P35520	p.Thr191Lys	rs121964973	missense variant	-	NC_000021.9:g.43065481G>T	TOPMed,gnomAD
CBS	P35520	p.Thr191Met	rs121964973	missense variant	-	NC_000021.9:g.43065481G>A	TOPMed,gnomAD
CBS	P35520	p.Thr191Met	rs121964973	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt,dbSNP
CBS	P35520	p.Thr191Met	VAR_008068	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt
CBS	P35520	p.Thr191Met	RCV000000155	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Pro192Leu	rs754553273	missense variant	-	NC_000021.9:g.43065478G>A	ExAC,gnomAD
CBS	P35520	p.Asn194Ser	rs911670352	missense variant	-	NC_000021.9:g.43065472T>C	TOPMed,gnomAD
CBS	P35520	p.Asn194Asp	rs370089875	missense variant	-	NC_000021.9:g.43065473T>C	ESP,ExAC,gnomAD
CBS	P35520	p.Arg196Ser	rs555751528	missense variant	-	NC_000021.9:g.43065465C>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asp198Asn	rs537027536	missense variant	-	NC_000021.9:g.43065461C>T	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asp198Val	VAR_008069	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro200Leu	rs758712880	missense variant	-	NC_000021.9:g.43065454G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro200Leu	rs758712880	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt,dbSNP
CBS	P35520	p.Pro200Leu	VAR_066099	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt
CBS	P35520	p.Val204Met	rs372679328	missense variant	-	NC_000021.9:g.43065443C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val204Met	RCV000197936	missense variant	-	NC_000021.9:g.43065443C>T	ClinVar
CBS	P35520	p.Gly205Glu	rs1367873681	missense variant	-	NC_000021.9:g.43065439C>T	gnomAD
CBS	P35520	p.Val206Met	RCV000200147	missense variant	-	NC_000021.9:g.43065437C>T	ClinVar
CBS	P35520	p.Val206Ala	rs1369398275	missense variant	-	NC_000021.9:g.43065436A>G	gnomAD
CBS	P35520	p.Val206Met	rs369220569	missense variant	-	NC_000021.9:g.43065437C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val206Met	RCV000648123	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065437C>T	ClinVar
CBS	P35520	p.Ala207Thr	rs1462927996	missense variant	-	NC_000021.9:g.43065434C>T	gnomAD
CBS	P35520	p.Trp208Cys	rs774174074	missense variant	-	NC_000021.9:g.43065429C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Trp208Arg	rs1060500683	missense variant	-	NC_000021.9:g.43065431A>G	TOPMed,gnomAD
CBS	P35520	p.Trp208Ter	rs774174074	stop gained	-	NC_000021.9:g.43065429C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Trp208Arg	RCV000786286	missense variant	-	NC_000021.9:g.43065431A>G	ClinVar
CBS	P35520	p.Trp208Arg	RCV000457277	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065431A>G	ClinVar
CBS	P35520	p.Arg209Gln	rs781759129	missense variant	-	NC_000021.9:g.43065427C>T	ExAC,gnomAD
CBS	P35520	p.Arg209Trp	rs137939628	missense variant	-	NC_000021.9:g.43065428G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys211Arg	rs201118737	missense variant	-	NC_000021.9:g.43065421T>C	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asn212Lys	rs2298758	missense variant	-	NC_000021.9:g.43065417G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asn212Lys	RCV000196277	missense variant	-	NC_000021.9:g.43065417G>C	ClinVar
CBS	P35520	p.Glu213Gly	rs1481588195	missense variant	-	NC_000021.9:g.43065415T>C	TOPMed,gnomAD
CBS	P35520	p.Glu213Lys	rs758703098	missense variant	-	NC_000021.9:g.43065416C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro215Ser	rs765471315	missense variant	-	NC_000021.9:g.43065410G>A	ExAC,gnomAD
CBS	P35520	p.Pro215Leu	rs1034007575	missense variant	-	NC_000021.9:g.43065409G>A	TOPMed
CBS	P35520	p.Asn216Ser	rs755015303	missense variant	-	NC_000021.9:g.43065406T>C	ExAC,gnomAD
CBS	P35520	p.Ser217Phe	rs1555874874	missense variant	-	NC_000021.9:g.43065403G>A	-
CBS	P35520	p.Ser217Phe	RCV000673555	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065403G>A	ClinVar
CBS	P35520	p.Ile219Thr	rs1264692707	missense variant	-	NC_000021.9:g.43065397A>G	gnomAD
CBS	P35520	p.Gln222Ter	RCV000778918	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065389G>A	ClinVar
CBS	P35520	p.Tyr223Asp	rs1455474151	missense variant	-	NC_000021.9:g.43065272A>C	gnomAD
CBS	P35520	p.Arg224Cys	RCV000726462	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Cys	RCV000243693	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Cys	RCV000556147	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Leu	rs761647392	missense variant	-	NC_000021.9:g.43065268C>A	ExAC,gnomAD
CBS	P35520	p.Arg224Cys	rs139456571	missense variant	-	NC_000021.9:g.43065269G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg224His	rs761647392	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt,dbSNP
CBS	P35520	p.Arg224His	VAR_002181	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt
CBS	P35520	p.Arg224His	rs761647392	missense variant	-	NC_000021.9:g.43065268C>T	ExAC,gnomAD
CBS	P35520	p.Ala226Pro	rs763835246	missense variant	-	NC_000021.9:g.43065263C>G	ExAC,gnomAD
CBS	P35520	p.Ala226Thr	rs763835246	missense variant	-	NC_000021.9:g.43065263C>T	ExAC,gnomAD
CBS	P35520	p.Ala226Thr	RCV000412334	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065263C>T	ClinVar
CBS	P35520	p.Asn228Ser	rs1555874803	missense variant	-	NC_000021.9:g.43065256T>C	-
CBS	P35520	p.Asn228Ser	rs1555874803	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt,dbSNP
CBS	P35520	p.Asn228Ser	VAR_046928	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt
CBS	P35520	p.Asn228Ser	RCV000669206	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065256T>C	ClinVar
CBS	P35520	p.Asn228Lys	rs1464223176	missense variant	-	NC_000021.9:g.43065255G>C	TOPMed,gnomAD
CBS	P35520	p.Asn228Lys	rs1464223176	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt,dbSNP
CBS	P35520	p.Asn228Lys	VAR_021794	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt
CBS	P35520	p.Pro229Arg	rs775293525	missense variant	-	NC_000021.9:g.43065253G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro229Thr	rs375730175	missense variant	-	NC_000021.9:g.43065254G>T	ESP,ExAC,gnomAD
CBS	P35520	p.Leu230Ter	RCV000169175	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065250del	ClinVar
CBS	P35520	p.Leu230Ter	RCV000198642	frameshift	-	NC_000021.9:g.43065250del	ClinVar
CBS	P35520	p.Leu230Gln	rs1411597530	missense variant	-	NC_000021.9:g.43065250A>T	TOPMed
CBS	P35520	p.Ala231Pro	VAR_046929	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp234Asn	rs773734233	missense variant	-	NC_000021.9:g.43065239C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp234Asn	RCV000586183	missense variant	Homocystinuria	NC_000021.9:g.43065239C>T	ClinVar
CBS	P35520	p.Asp234Asn	RCV000199941	missense variant	-	NC_000021.9:g.43065239C>T	ClinVar
CBS	P35520	p.Asp234del	VAR_046930	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr236Ile	rs981981270	missense variant	-	NC_000021.9:g.43065232G>A	TOPMed
CBS	P35520	p.Thr236Ter	RCV000409103	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065231_43065232delinsCACC	ClinVar
CBS	P35520	p.Ala237Thr	rs1226723382	missense variant	-	NC_000021.9:g.43065230C>T	gnomAD
CBS	P35520	p.Ala237Val	RCV000688536	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065229G>A	ClinVar
CBS	P35520	p.Asp238Ala	rs1364919198	missense variant	-	NC_000021.9:g.43065226T>G	gnomAD
CBS	P35520	p.Glu239Lys	VAR_002182	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gln242His	rs1388788227	missense variant	-	NC_000021.9:g.43065213C>A	gnomAD
CBS	P35520	p.Gln243His	rs749466749	missense variant	-	NC_000021.9:g.43065210C>G	ExAC,gnomAD
CBS	P35520	p.Gly246Glu	rs1441519122	missense variant	-	NC_000021.9:g.43063991C>T	gnomAD
CBS	P35520	p.Lys247_Gly256del	VAR_046931	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp249Asn	rs767397847	missense variant	-	NC_000021.9:g.43063983C>T	gnomAD
CBS	P35520	p.Met250Ile	rs863223431	missense variant	-	NC_000021.9:g.43063978C>T	gnomAD
CBS	P35520	p.Met250Leu	rs777884368	missense variant	-	NC_000021.9:g.43063980T>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Met250Lys	rs1555874564	missense variant	-	NC_000021.9:g.43063979A>T	-
CBS	P35520	p.Met250Lys	RCV000648121	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063979A>T	ClinVar
CBS	P35520	p.Met250Ile	RCV000800742	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063978C>T	ClinVar
CBS	P35520	p.Met250Ile	RCV000198250	missense variant	-	NC_000021.9:g.43063978C>T	ClinVar
CBS	P35520	p.Met250Ile	rs863223431	missense variant	-	NC_000021.9:g.43063978C>G	gnomAD
CBS	P35520	p.Leu251Pro	rs1176770868	missense variant	-	NC_000021.9:g.43063976A>G	gnomAD
CBS	P35520	p.Leu251Pro	RCV000671309	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063976A>G	ClinVar
CBS	P35520	p.Ser254Pro	rs1470764055	missense variant	-	NC_000021.9:g.43063968A>G	gnomAD
CBS	P35520	p.Val255Gly	rs1409259346	missense variant	-	NC_000021.9:g.43063964A>C	gnomAD
CBS	P35520	p.Gly256Ser	rs1000697114	missense variant	-	NC_000021.9:g.43063962C>T	TOPMed
CBS	P35520	p.Gly256Val	rs1157774154	missense variant	-	NC_000021.9:g.43063961C>A	gnomAD
CBS	P35520	p.Thr257Met	rs758236584	missense variant	-	NC_000021.9:g.43063958G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr257Met	RCV000169294	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063958G>A	ClinVar
CBS	P35520	p.Gly259Ser	RCV000648118	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063953C>T	ClinVar
CBS	P35520	p.Gly259Ser	rs143124288	missense variant	-	NC_000021.9:g.43063953C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Gly259Asp	rs1242898623	missense variant	-	NC_000021.9:g.43063952C>T	gnomAD
CBS	P35520	p.Thr262Met	RCV000200469	missense variant	-	NC_000021.9:g.43063943G>A	ClinVar
CBS	P35520	p.Thr262Met	rs149119723	missense variant	-	NC_000021.9:g.43063943G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr262Arg	VAR_021795	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile264Thr	rs760212248	missense variant	-	NC_000021.9:g.43063937A>G	ExAC,gnomAD
CBS	P35520	p.Ala265Val	rs1351478245	missense variant	-	NC_000021.9:g.43063934G>A	gnomAD
CBS	P35520	p.Arg266Lys	rs121964969	missense variant	-	NC_000021.9:g.43063931C>T	gnomAD
CBS	P35520	p.Arg266Lys	rs121964969	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt,dbSNP
CBS	P35520	p.Arg266Lys	VAR_008074	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt
CBS	P35520	p.Arg266Lys	RCV000469164	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063931C>T	ClinVar
CBS	P35520	p.Arg266Gly	VAR_008073	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys269del	VAR_074591	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu270Lys	rs1337180584	missense variant	-	NC_000021.9:g.43063920C>T	gnomAD
CBS	P35520	p.Glu270del	VAR_008075	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Cys272Ter	RCV000673238	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063912A>T	ClinVar
CBS	P35520	p.Cys272Ter	RCV000507871	nonsense	-	NC_000021.9:g.43063912A>T	ClinVar
CBS	P35520	p.Cys272Ter	rs528689432	stop gained	-	NC_000021.9:g.43063912A>T	-
CBS	P35520	p.Pro273Leu	rs1386009525	missense variant	-	NC_000021.9:g.43063910G>A	gnomAD
CBS	P35520	p.Cys275Ter	rs764638041	stop gained	-	NC_000021.9:g.43063903G>T	ExAC,gnomAD
CBS	P35520	p.Cys275Tyr	VAR_021796	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Arg276Lys	rs1400846504	missense variant	-	NC_000021.9:g.43063901C>T	gnomAD
CBS	P35520	p.Ile277Leu	rs756816076	missense variant	-	NC_000021.9:g.43063078T>G	ExAC
CBS	P35520	p.Ile278Thr	rs5742905	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt,dbSNP
CBS	P35520	p.Ile278Thr	VAR_002184	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt
CBS	P35520	p.Ile278Thr	rs5742905	missense variant	-	NC_000021.9:g.43063074A>G	1000Genomes,ESP,TOPMed
CBS	P35520	p.Ile278Thr	RCV000000141	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000000142	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000507410	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000078111	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000781197	missense variant	Homocystinuria	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000249462	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000173640	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Ser	VAR_066100	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly279Ter	RCV000508400	frameshift	-	NC_000021.9:g.43063075_43063076insTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGAT	ClinVar
CBS	P35520	p.Val280Ala	rs1170192852	missense variant	-	NC_000021.9:g.43063068A>G	gnomAD
CBS	P35520	p.Asp281Asn	VAR_066101	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro282ProSerArgTrpGlyPheCysTrpAlaTerAlaLeuLysProArgProLeuGlnIleIleGlyValAspUnk	rs1555874223	stop gained	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	-
CBS	P35520	p.Pro282ProLysGlyProSerSerGlnSerArgArgSerTerThrArgArgSerArgGlnProThrArgTrpAsnUnk	rs786200967	stop gained	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	-
CBS	P35520	p.Pro282Ser	RCV000413391	missense variant	-	NC_000021.9:g.43063063G>A	ClinVar
CBS	P35520	p.Pro282Ser	rs1057518515	missense variant	-	NC_000021.9:g.43063063G>A	-
CBS	P35520	p.Glu283SerArgTrpGlyPheCysTrpAlaTer	RCV000243626	nonsense	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	ClinVar
CBS	P35520	p.Glu283Lys	rs765811825	missense variant	-	NC_000021.9:g.43063060C>T	ExAC,gnomAD
CBS	P35520	p.Glu283LysGlyProSerSerGlnSerArgArgSerTer	RCV000152935	nonsense	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	ClinVar
CBS	P35520	p.Gly284Arg	rs1480171482	missense variant	-	NC_000021.9:g.43063057C>T	gnomAD
CBS	P35520	p.Ile286Val	RCV000731875	missense variant	-	NC_000021.9:g.43063051T>C	ClinVar
CBS	P35520	p.Ile286Thr	rs1060500681	missense variant	-	NC_000021.9:g.43063050A>G	-
CBS	P35520	p.Ile286Val	rs147040567	missense variant	-	NC_000021.9:g.43063051T>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile286Val	RCV000648120	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063051T>C	ClinVar
CBS	P35520	p.Ile286Thr	RCV000477458	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063050A>G	ClinVar
CBS	P35520	p.Ala288Thr	RCV000671575	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063045C>T	ClinVar
CBS	P35520	p.Ala288Thr	rs141502207	missense variant	-	NC_000021.9:g.43063045C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Ala288Thr	rs141502207	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt,dbSNP
CBS	P35520	p.Ala288Thr	VAR_046933	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt
CBS	P35520	p.Ala288Ser	rs141502207	missense variant	-	NC_000021.9:g.43063045C>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala288Pro	VAR_046932	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro290Gln	rs760912339	missense variant	-	NC_000021.9:g.43063038G>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro290Leu	rs760912339	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt,dbSNP
CBS	P35520	p.Pro290Leu	VAR_002185	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt
CBS	P35520	p.Pro290Leu	rs760912339	missense variant	-	NC_000021.9:g.43063038G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu291Asp	rs201155833	missense variant	-	NC_000021.9:g.43063034C>A	1000Genomes,TOPMed
CBS	P35520	p.Glu292Lys	rs761995096	missense variant	-	NC_000021.9:g.43063033C>T	ExAC,gnomAD
CBS	P35520	p.Glu292Ter	rs761995096	stop gained	-	NC_000021.9:g.43063033C>A	ExAC,gnomAD
CBS	P35520	p.Glu292Val	rs774134517	missense variant	-	NC_000021.9:g.43063032T>A	ExAC,gnomAD
CBS	P35520	p.Glu292Leu	rs1064795178	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	-
CBS	P35520	p.Glu292Leu	RCV000482632	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	ClinVar
CBS	P35520	p.Gln295Glu	rs562885611	missense variant	-	NC_000021.9:g.43063024G>C	1000Genomes,TOPMed
CBS	P35520	p.Thr296Arg	rs562530775	missense variant	-	NC_000021.9:g.43063020G>C	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Thr296Met	RCV000558244	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063020G>A	ClinVar
CBS	P35520	p.Thr296Met	rs562530775	missense variant	-	NC_000021.9:g.43063020G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Glu297Ter	rs1298089659	stop gained	-	NC_000021.9:g.43063018C>A	gnomAD
CBS	P35520	p.Thr300Ala	rs780856971	missense variant	-	NC_000021.9:g.43063009T>C	ExAC,gnomAD
CBS	P35520	p.Tyr301Ter	rs746575551	stop gained	-	NC_000021.9:g.43063004G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Tyr301Ter	RCV000411137	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063004G>C	ClinVar
CBS	P35520	p.Glu302Lys	rs779270933	missense variant	-	NC_000021.9:g.43063003C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu302Lys	rs779270933	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt,dbSNP
CBS	P35520	p.Glu302Lys	VAR_008076	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt
CBS	P35520	p.Glu302Lys	RCV000723460	missense variant	-	NC_000021.9:g.43063003C>T	ClinVar
CBS	P35520	p.Gly305Trp	rs1178687976	missense variant	-	NC_000021.9:g.43062994C>A	gnomAD
CBS	P35520	p.Gly305Arg	VAR_008077	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly307Ser	RCV000078112	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000366433	missense variant	Homocystinuria	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000000137	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000173641	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000618753	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	rs121964962	missense variant	-	NC_000021.9:g.43062988C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly307Ser	rs121964962	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt,dbSNP
CBS	P35520	p.Gly307Ser	VAR_002186	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt
CBS	P35520	p.Gly307Ser	RCV000000138	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Asp309Asn	rs540013184	missense variant	-	NC_000021.9:g.43062982C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile311Leu	rs1323813663	missense variant	-	NC_000021.9:g.43062976T>G	gnomAD
CBS	P35520	p.Pro312His	rs761787042	missense variant	-	NC_000021.9:g.43062972G>T	ExAC,gnomAD
CBS	P35520	p.Thr313Met	rs774557878	missense variant	-	NC_000021.9:g.43062969G>A	ExAC,gnomAD
CBS	P35520	p.Val314Met	rs762823766	missense variant	-	NC_000021.9:g.43062967C>T	ExAC,gnomAD
CBS	P35520	p.Val314Ala	rs1438933819	missense variant	-	NC_000021.9:g.43062966A>G	gnomAD
CBS	P35520	p.Arg317Gly	rs775432669	missense variant	-	NC_000021.9:g.43062958T>C	ExAC,gnomAD
CBS	P35520	p.Thr318Met	RCV000755893	missense variant	-	NC_000021.9:g.43062954G>A	ClinVar
CBS	P35520	p.Thr318Met	RCV000468076	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062954G>A	ClinVar
CBS	P35520	p.Thr318Met	rs769541394	missense variant	-	NC_000021.9:g.43062954G>A	ExAC,gnomAD
CBS	P35520	p.Val320Ala	rs781567152	missense variant	-	NC_000021.9:g.43062391A>G	ExAC,gnomAD
CBS	P35520	p.Val320Ala	rs781567152	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt,dbSNP
CBS	P35520	p.Val320Ala	VAR_008078	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt
CBS	P35520	p.Val320Ala	RCV000410016	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062391A>G	ClinVar
CBS	P35520	p.Val320Ala	RCV000780081	missense variant	Homocystinuria	NC_000021.9:g.43062391A>G	ClinVar
CBS	P35520	p.Asp321Gly	rs1225612737	missense variant	-	NC_000021.9:g.43062388T>C	gnomAD
CBS	P35520	p.Asp321Val	VAR_066102	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys322Thr	rs751768786	missense variant	-	NC_000021.9:g.43062385T>G	ExAC,gnomAD
CBS	P35520	p.Lys322Glu	rs757588995	missense variant	-	NC_000021.9:g.43062386T>C	ExAC,gnomAD
CBS	P35520	p.Trp323Ter	rs863223432	stop gained	-	NC_000021.9:g.43062381C>T	gnomAD
CBS	P35520	p.Trp323Ter	RCV000197013	nonsense	-	NC_000021.9:g.43062381C>T	ClinVar
CBS	P35520	p.Trp323Ter	RCV000363392	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062381C>T	ClinVar
CBS	P35520	p.Asp328Asn	rs758447354	missense variant	-	NC_000021.9:g.43062368C>T	ExAC,gnomAD
CBS	P35520	p.Asp328Asn	RCV000665455	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062368C>T	ClinVar
CBS	P35520	p.Asp328Asn	RCV000755891	missense variant	-	NC_000021.9:g.43062368C>T	ClinVar
CBS	P35520	p.Glu329Gly	rs1165948778	missense variant	-	NC_000021.9:g.43062364T>C	gnomAD
CBS	P35520	p.Glu329Asp	rs765151853	missense variant	-	NC_000021.9:g.43062363C>G	ExAC,gnomAD
CBS	P35520	p.Ala331Ser	rs1194877209	missense variant	-	NC_000021.9:g.43062359C>A	gnomAD
CBS	P35520	p.Ala331Glu	rs777919630	missense variant	-	NC_000021.9:g.43062358G>T	TOPMed,gnomAD
CBS	P35520	p.Ala331Val	RCV000173977	missense variant	-	NC_000021.9:g.43062358G>A	ClinVar
CBS	P35520	p.Ala331Val	rs777919630	missense variant	-	NC_000021.9:g.43062358G>A	TOPMed,gnomAD
CBS	P35520	p.Ala331Val	rs777919630	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt,dbSNP
CBS	P35520	p.Ala331Val	VAR_002187	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt
CBS	P35520	p.Ala331Glu	rs777919630	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt,dbSNP
CBS	P35520	p.Ala331Glu	VAR_008079	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt
CBS	P35520	p.Ala331Glu	RCV000547604	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062358G>T	ClinVar
CBS	P35520	p.AlaArg335AlaCys	rs1064793703	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	-
CBS	P35520	p.Arg336Ter	RCV000670102	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062340_43062343del	ClinVar
CBS	P35520	p.Arg336His	rs760417941	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt,dbSNP
CBS	P35520	p.Arg336His	VAR_008080	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt
CBS	P35520	p.Arg336His	rs760417941	missense variant	-	NC_000021.9:g.43062343C>T	ExAC,gnomAD
CBS	P35520	p.Arg336Cys	rs398123151	missense variant	-	NC_000021.9:g.43062344G>A	ExAC,gnomAD
CBS	P35520	p.Arg336His	RCV000409189	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062343C>T	ClinVar
CBS	P35520	p.Arg336Cys	RCV000078105	missense variant	-	NC_000021.9:g.43062344G>A	ClinVar
CBS	P35520	p.Arg336Cys	RCV000169310	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062344G>A	ClinVar
CBS	P35520	p.Arg336Cys	RCV000487415	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	ClinVar
CBS	P35520	p.Arg336Leu	rs760417941	missense variant	-	NC_000021.9:g.43062343C>A	ExAC,gnomAD
CBS	P35520	p.Met337Leu	RCV000199004	missense variant	-	NC_000021.9:g.43062341T>G	ClinVar
CBS	P35520	p.Met337Val	RCV000196067	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
CBS	P35520	p.Met337Val	RCV000243887	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
CBS	P35520	p.Met337Val	rs372822486	missense variant	-	NC_000021.9:g.43062341T>C	ESP,ExAC,gnomAD
CBS	P35520	p.Met337Arg	rs771910579	missense variant	-	NC_000021.9:g.43062340A>C	ExAC,gnomAD
CBS	P35520	p.Met337Leu	rs372822486	missense variant	-	NC_000021.9:g.43062341T>G	ESP,ExAC,gnomAD
CBS	P35520	p.Leu338Pro	VAR_021797	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala340Thr	rs1321607022	missense variant	-	NC_000021.9:g.43062332C>T	gnomAD
CBS	P35520	p.Ala340Val	rs1282760211	missense variant	-	NC_000021.9:g.43062331G>A	gnomAD
CBS	P35520	p.Gly347Cys	rs771298943	missense variant	-	NC_000021.9:g.43062311C>A	ExAC,gnomAD
CBS	P35520	p.Gly347Ser	RCV000197584	missense variant	-	NC_000021.9:g.43062311C>T	ClinVar
CBS	P35520	p.Gly347Ser	rs771298943	missense variant	-	NC_000021.9:g.43062311C>T	ExAC,gnomAD
CBS	P35520	p.Gly347Ser	RCV000780082	missense variant	Homocystinuria	NC_000021.9:g.43062311C>T	ClinVar
CBS	P35520	p.Ser349Thr	rs973369208	missense variant	-	NC_000021.9:g.43060540C>G	TOPMed
CBS	P35520	p.Ser349Gly	rs763890444	missense variant	-	NC_000021.9:g.43060541T>C	ExAC,gnomAD
CBS	P35520	p.Ser349Asn	VAR_021799	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala350Ser	rs762513900	missense variant	-	NC_000021.9:g.43060538C>A	ExAC,gnomAD
CBS	P35520	p.Ala350Val	rs1400722415	missense variant	-	NC_000021.9:g.43060537G>A	gnomAD
CBS	P35520	p.Gly351Asp	rs1160971811	missense variant	-	NC_000021.9:g.43060534C>T	gnomAD
CBS	P35520	p.Gly351Arg	rs774926464	missense variant	-	NC_000021.9:g.43060535C>G	ExAC,gnomAD
CBS	P35520	p.Gly351Arg	RCV000195902	missense variant	-	NC_000021.9:g.43060535C>G	ClinVar
CBS	P35520	p.Ser352Asn	VAR_008081	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr353Met	RCV000169466	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060528G>A	ClinVar
CBS	P35520	p.Thr353Met	rs121964972	missense variant	-	NC_000021.9:g.43060528G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr353Met	rs121964972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt,dbSNP
CBS	P35520	p.Thr353Met	VAR_008082	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt
CBS	P35520	p.Val354Ala	rs773726723	missense variant	-	NC_000021.9:g.43060525A>G	ExAC,gnomAD
CBS	P35520	p.Ala355Pro	rs1192581453	missense variant	-	NC_000021.9:g.43060523C>G	gnomAD
CBS	P35520	p.Ala355Val	RCV000598006	missense variant	-	NC_000021.9:g.43060522G>A	ClinVar
CBS	P35520	p.Ala355Val	rs772384826	missense variant	-	NC_000021.9:g.43060522G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala355Thr	rs1192581453	missense variant	-	NC_000021.9:g.43060523C>T	gnomAD
CBS	P35520	p.Val356Ala	rs370163789	missense variant	-	NC_000021.9:g.43060519A>G	gnomAD
CBS	P35520	p.Val356Gly	rs370163789	missense variant	-	NC_000021.9:g.43060519A>C	gnomAD
CBS	P35520	p.Val356Met	rs1220129204	missense variant	-	NC_000021.9:g.43060520C>T	gnomAD
CBS	P35520	p.Val356Ala	RCV000618875	missense variant	-	NC_000021.9:g.43060519A>G	ClinVar
CBS	P35520	p.Ala357Thr	rs1292263120	missense variant	-	NC_000021.9:g.43060517C>T	gnomAD
CBS	P35520	p.Ala357Gly	rs863223437	missense variant	-	NC_000021.9:g.43060516G>C	TOPMed,gnomAD
CBS	P35520	p.Ala357Val	rs863223437	missense variant	-	NC_000021.9:g.43060516G>A	TOPMed,gnomAD
CBS	P35520	p.Ala357Gly	RCV000473415	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060516G>C	ClinVar
CBS	P35520	p.Ala357Gly	RCV000199512	missense variant	-	NC_000021.9:g.43060516G>C	ClinVar
CBS	P35520	p.Val358Met	RCV000474043	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Val358Leu	rs148589243	missense variant	-	NC_000021.9:g.43060514C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val358Met	rs148589243	missense variant	-	NC_000021.9:g.43060514C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val358Met	RCV000420634	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Val358Met	RCV000199585	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Lys359Asn	rs1300646763	missense variant	-	NC_000021.9:g.43060509C>G	gnomAD
CBS	P35520	p.Lys359Met	rs779940364	missense variant	-	NC_000021.9:g.43060510T>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala360Asp	rs1365464994	missense variant	-	NC_000021.9:g.43060507G>T	gnomAD
CBS	P35520	p.AlaAla360AlaThr	rs1555873407	missense variant	-	NC_000021.9:g.43060505_43060506delinsTA	-
CBS	P35520	p.Ala360Thr	rs1423323590	missense variant	-	NC_000021.9:g.43060508C>T	gnomAD
CBS	P35520	p.Ala360Val	rs1365464994	missense variant	-	NC_000021.9:g.43060507G>A	gnomAD
CBS	P35520	p.Ala361Val	rs370851632	missense variant	-	NC_000021.9:g.43060504G>A	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala361Val	RCV000576355	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060504G>A	ClinVar
CBS	P35520	p.Ala361Thr	rs745764562	missense variant	-	NC_000021.9:g.43060505C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala361Thr	rs745764562	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt,dbSNP
CBS	P35520	p.Ala361Thr	VAR_046934	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt
CBS	P35520	p.Ala361Thr	RCV000648114	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060505_43060506delinsTA	ClinVar
CBS	P35520	p.Glu363Ter	RCV000482968	frameshift	-	NC_000021.9:g.43060500del	ClinVar
CBS	P35520	p.Glu363Lys	rs1478217276	missense variant	-	NC_000021.9:g.43060499C>T	gnomAD
CBS	P35520	p.Leu364Pro	rs1265455165	missense variant	-	NC_000021.9:g.43060495A>G	gnomAD
CBS	P35520	p.Glu366Lys	rs757098275	missense variant	-	NC_000021.9:g.43060490C>T	ExAC,gnomAD
CBS	P35520	p.Gly367Ser	rs1269436351	missense variant	-	NC_000021.9:g.43060487C>T	gnomAD
CBS	P35520	p.Arg369Cys	RCV000231839	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060481G>A	ClinVar
CBS	P35520	p.Arg369Cys	rs117687681	missense variant	-	NC_000021.9:g.43060481G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg369Pro	rs11700812	missense variant	-	NC_000021.9:g.43060480C>G	ExAC,gnomAD
CBS	P35520	p.Arg369Cys	RCV000242755	missense variant	-	NC_000021.9:g.43060481G>A	ClinVar
CBS	P35520	p.Arg369His	rs11700812	missense variant	-	NC_000021.9:g.43060480C>T	ExAC,gnomAD
CBS	P35520	p.Cys370Tyr	RCV000482454	missense variant	-	NC_000021.9:g.43060477C>T	ClinVar
CBS	P35520	p.Cys370Tyr	rs757920190	missense variant	-	NC_000021.9:g.43060477C>T	ExAC,gnomAD
CBS	P35520	p.Cys370Tyr	rs757920190	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt,dbSNP
CBS	P35520	p.Cys370Tyr	VAR_008085	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt
CBS	P35520	p.Cys370Arg	rs1192694513	missense variant	-	NC_000021.9:g.43060478A>G	gnomAD
CBS	P35520	p.Val371Met	RCV000196393	missense variant	-	NC_000021.9:g.43060475C>T	ClinVar
CBS	P35520	p.Val371Leu	rs372010465	missense variant	-	NC_000021.9:g.43060475C>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val371Met	rs372010465	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt,dbSNP
CBS	P35520	p.Val371Met	VAR_002190	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt
CBS	P35520	p.Val371Met	rs372010465	missense variant	-	NC_000021.9:g.43060475C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val372Phe	rs775354680	missense variant	-	NC_000021.9:g.43060472C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val372Ile	rs775354680	missense variant	-	NC_000021.9:g.43060472C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val372Phe	RCV000200072	missense variant	-	NC_000021.9:g.43060472C>A	ClinVar
CBS	P35520	p.Asp376Asn	rs1170128038	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt,dbSNP
CBS	P35520	p.Asp376Asn	VAR_046935	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt
CBS	P35520	p.Asp376Asn	rs1170128038	missense variant	-	NC_000021.9:g.43060460C>T	gnomAD
CBS	P35520	p.Ser377Thr	rs920511437	missense variant	-	NC_000021.9:g.43060457A>T	TOPMed
CBS	P35520	p.Val378Leu	rs547713475	missense variant	-	NC_000021.9:g.43060454C>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Arg379Trp	rs769080151	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt,dbSNP
CBS	P35520	p.Arg379Trp	VAR_046936	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt
CBS	P35520	p.Arg379Gln	RCV000169171	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060450C>T	ClinVar
CBS	P35520	p.Arg379Gln	rs763036586	missense variant	-	NC_000021.9:g.43060450C>T	ExAC,gnomAD
CBS	P35520	p.Arg379Trp	RCV000763061	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060451G>A	ClinVar
CBS	P35520	p.Arg379Gln	rs763036586	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt,dbSNP
CBS	P35520	p.Arg379Gln	VAR_021801	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt
CBS	P35520	p.Arg379Trp	rs769080151	missense variant	-	NC_000021.9:g.43060451G>A	ExAC,gnomAD
CBS	P35520	p.Thr383Ile	RCV000701888	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059301G>A	ClinVar
CBS	P35520	p.Lys384Glu	rs121964967	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt,dbSNP
CBS	P35520	p.Lys384Glu	VAR_002191	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt
CBS	P35520	p.Lys384Glu	rs121964967	missense variant	-	NC_000021.9:g.43059299T>C	-
CBS	P35520	p.Lys384Glu	RCV000000145	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43059299T>C	ClinVar
CBS	P35520	p.Lys384Asn	VAR_008086	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp388Gly	rs1421332904	missense variant	-	NC_000021.9:g.43059286T>C	gnomAD
CBS	P35520	p.Asp388Asn	rs375513996	missense variant	-	NC_000021.9:g.43059287C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp388Tyr	rs375513996	missense variant	-	NC_000021.9:g.43059287C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg389Thr	RCV000596015	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
CBS	P35520	p.Arg389Thr	RCV000620693	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
CBS	P35520	p.Arg389Lys	rs1383178636	missense variant	-	NC_000021.9:g.43059283C>T	gnomAD
CBS	P35520	p.Arg389Thr	rs1383178636	missense variant	-	NC_000021.9:g.43059283C>G	gnomAD
CBS	P35520	p.Met391Ile	VAR_008087	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys394Arg	rs1424033329	missense variant	-	NC_000021.9:g.43059268T>C	gnomAD
CBS	P35520	p.Gly395Val	rs1257759867	missense variant	-	NC_000021.9:g.43059265C>A	gnomAD
CBS	P35520	p.Glu399Lys	rs1485255027	missense variant	-	NC_000021.9:g.43059254C>T	gnomAD
CBS	P35520	p.Leu402Ile	rs763217939	missense variant	-	NC_000021.9:g.43059245G>T	ExAC,gnomAD
CBS	P35520	p.Leu402Pro	rs371214833	missense variant	-	NC_000021.9:g.43059244A>G	ESP,ExAC,gnomAD
CBS	P35520	p.Leu402Pro	RCV000555545	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059244A>G	ClinVar
CBS	P35520	p.Thr403Met	rs886042297	missense variant	-	NC_000021.9:g.43059241G>A	gnomAD
CBS	P35520	p.Thr403Met	RCV000372121	missense variant	-	NC_000021.9:g.43059241G>A	ClinVar
CBS	P35520	p.Glu404Asp	rs376942014	missense variant	-	NC_000021.9:g.43059237C>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys405Gln	rs570121873	missense variant	-	NC_000021.9:g.43059236T>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Lys405Ter	rs570121873	stop gained	-	NC_000021.9:g.43059236T>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Lys406Arg	rs766523013	missense variant	-	NC_000021.9:g.43059232T>C	ExAC,gnomAD
CBS	P35520	p.Lys406Gln	rs992398873	missense variant	-	NC_000021.9:g.43059233T>G	TOPMed,gnomAD
CBS	P35520	p.Lys406Ter	RCV000174443	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059231del	ClinVar
CBS	P35520	p.Lys406Ter	RCV000724407	frameshift	-	NC_000021.9:g.43059231del	ClinVar
CBS	P35520	p.Trp408Ter	RCV000588547	frameshift	Homocystinuria	NC_000021.9:g.43059230del	ClinVar
CBS	P35520	p.Trp408Ter	RCV000666270	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059230del	ClinVar
CBS	P35520	p.Trp408Cys	rs1445695397	missense variant	-	NC_000021.9:g.43058968C>A	gnomAD
CBS	P35520	p.Trp408Ter	rs863223433	stop gained	-	NC_000021.9:g.43059226C>T	-
CBS	P35520	p.Trp408Ter	RCV000196138	nonsense	-	NC_000021.9:g.43059226C>T	ClinVar
CBS	P35520	p.Trp409Ter	rs376916741	stop gained	-	NC_000021.9:g.43058966C>T	ExAC,gnomAD
CBS	P35520	p.Trp409Ter	rs1332950288	stop gained	-	NC_000021.9:g.43058965C>T	gnomAD
CBS	P35520	p.Trp409Leu	rs376916741	missense variant	-	NC_000021.9:g.43058966C>A	ExAC,gnomAD
CBS	P35520	p.Trp410Ter	rs1467814360	stop gained	-	NC_000021.9:g.43058962C>T	gnomAD
CBS	P35520	p.His411Asn	rs1404697104	missense variant	-	NC_000021.9:g.43058961G>T	gnomAD
CBS	P35520	p.Arg413His	rs574577579	missense variant	-	NC_000021.9:g.43058954C>T	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Arg413Cys	rs767595472	missense variant	-	NC_000021.9:g.43058955G>A	ExAC,gnomAD
CBS	P35520	p.Val414Ile	rs1379816380	missense variant	-	NC_000021.9:g.43058952C>T	gnomAD
CBS	P35520	p.Gln415Arg	rs1180174934	missense variant	-	NC_000021.9:g.43058948T>C	gnomAD
CBS	P35520	p.Glu416Gln	rs751477766	missense variant	-	NC_000021.9:g.43058946C>G	ExAC,gnomAD
CBS	P35520	p.Gly418Asp	rs1460109011	missense variant	-	NC_000021.9:g.43058939C>T	gnomAD
CBS	P35520	p.Gly418Ser	rs1200734227	missense variant	-	NC_000021.9:g.43058940C>T	gnomAD
CBS	P35520	p.Gly418Val	rs1460109011	missense variant	-	NC_000021.9:g.43058939C>A	gnomAD
CBS	P35520	p.Ala421Asp	rs886039021	missense variant	-	NC_000021.9:g.43058930G>T	gnomAD
CBS	P35520	p.Ala421Asp	RCV000248108	missense variant	-	NC_000021.9:g.43058930G>T	ClinVar
CBS	P35520	p.Pro422Leu	RCV000000152	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058927G>A	ClinVar
CBS	P35520	p.Pro422Leu	rs28934892	missense variant	-	NC_000021.9:g.43058927G>A	gnomAD
CBS	P35520	p.Pro422Leu	rs28934892	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt,dbSNP
CBS	P35520	p.Pro422Leu	VAR_021802	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt
CBS	P35520	p.Val425Met	RCV000592999	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Val425Met	RCV000620815	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Val425Met	RCV000554628	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Val425Leu	rs138211175	missense variant	-	NC_000021.9:g.43058919C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val425Met	rs138211175	missense variant	-	NC_000021.9:g.43058919C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Leu426Phe	rs1311066540	missense variant	-	NC_000021.9:g.43058916G>A	gnomAD
CBS	P35520	p.Pro427Leu	rs863223434	missense variant	-	NC_000021.9:g.43058912G>A	gnomAD
CBS	P35520	p.Pro427Leu	RCV000584030	missense variant	-	NC_000021.9:g.43058912G>A	ClinVar
CBS	P35520	p.Pro427Ser	rs1450044796	missense variant	-	NC_000021.9:g.43058913G>A	gnomAD
CBS	P35520	p.Thr428Asn	rs776175674	missense variant	-	NC_000021.9:g.43058909G>T	ExAC,gnomAD
CBS	P35520	p.Ile429Val	rs1405061619	missense variant	-	NC_000021.9:g.43058907T>C	gnomAD
CBS	P35520	p.Thr430Ala	rs947698557	missense variant	-	NC_000021.9:g.43058904T>C	TOPMed
CBS	P35520	p.Cys431Tyr	rs1381340460	missense variant	-	NC_000021.9:g.43058900C>T	gnomAD
CBS	P35520	p.Gly432Arg	rs1180854779	missense variant	-	NC_000021.9:g.43058898C>T	gnomAD
CBS	P35520	p.His433Pro	rs1237063529	missense variant	-	NC_000021.9:g.43058894T>G	gnomAD
CBS	P35520	p.Thr434Asn	rs1555872506	missense variant	-	NC_000021.9:g.43058891G>T	-
CBS	P35520	p.Thr434Asn	rs1555872506	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt,dbSNP
CBS	P35520	p.Thr434Asn	VAR_008088	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt
CBS	P35520	p.Thr434Asn	RCV000667146	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058891G>T	ClinVar
CBS	P35520	p.Ile435Asn	rs1282119406	missense variant	-	NC_000021.9:g.43058888A>T	gnomAD
CBS	P35520	p.Ile435Thr	RCV000666335	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058888A>G	ClinVar
CBS	P35520	p.Ile435Thr	rs1282119406	missense variant	-	NC_000021.9:g.43058888A>G	gnomAD
CBS	P35520	p.Ile435Thr	VAR_008089	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu436Lys	rs1354271840	missense variant	-	NC_000021.9:g.43058886C>T	gnomAD
CBS	P35520	p.Leu438Phe	rs1243421704	missense variant	-	NC_000021.9:g.43058880G>A	gnomAD
CBS	P35520	p.Arg439Gln	rs756467921	missense variant	-	NC_000021.9:g.43058876C>T	ExAC,gnomAD
CBS	P35520	p.Arg439Trp	rs780508029	missense variant	-	NC_000021.9:g.43058877G>A	ExAC,gnomAD
CBS	P35520	p.Arg439Gln	RCV000169494	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058876C>T	ClinVar
CBS	P35520	p.Glu440Gln	rs1449634173	missense variant	-	NC_000021.9:g.43058874C>G	gnomAD
CBS	P35520	p.Lys441Ter	rs1057516645	stop gained	-	NC_000021.9:g.43058871T>A	-
CBS	P35520	p.Lys441Ter	RCV000412412	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058871T>A	ClinVar
CBS	P35520	p.Gly442Asp	rs1324151005	missense variant	-	NC_000021.9:g.43058867C>T	gnomAD
CBS	P35520	p.Asp444Asn	RCV000174656	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058862C>T	ClinVar
CBS	P35520	p.Asp444Asn	rs28934891	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt,dbSNP
CBS	P35520	p.Asp444Asn	VAR_002192	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt
CBS	P35520	p.Asp444Asn	rs28934891	missense variant	-	NC_000021.9:g.43058862C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala446Thr	rs1413430493	missense variant	-	NC_000021.9:g.43058856C>T	gnomAD
CBS	P35520	p.Ala446Val	rs757347527	missense variant	-	NC_000021.9:g.43058855G>A	ExAC,gnomAD
CBS	P35520	p.Ala446Ser	VAR_066103	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro447Thr	rs764165836	missense variant	-	NC_000021.9:g.43058853G>T	ExAC,gnomAD
CBS	P35520	p.Val448Met	rs865989946	missense variant	-	NC_000021.9:g.43058850C>T	TOPMed,gnomAD
CBS	P35520	p.Val448Leu	rs865989946	missense variant	-	NC_000021.9:g.43058850C>A	TOPMed,gnomAD
CBS	P35520	p.Val448Met	RCV000490064	missense variant	-	NC_000021.9:g.43058850C>T	ClinVar
CBS	P35520	p.Val449Gly	VAR_074593	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu451Asp	RCV000764259	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058839C>G	ClinVar
CBS	P35520	p.Glu451Asp	RCV000198168	missense variant	-	NC_000021.9:g.43058839C>G	ClinVar
CBS	P35520	p.Glu451Asp	rs367962613	missense variant	-	NC_000021.9:g.43058839C>G	ESP,ExAC,gnomAD
CBS	P35520	p.Glu451Gly	rs1220059415	missense variant	-	NC_000021.9:g.43058840T>C	gnomAD
CBS	P35520	p.Ala452Val	rs201585750	missense variant	-	NC_000021.9:g.43058837G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala452Glu	rs201585750	missense variant	-	NC_000021.9:g.43058837G>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly453Glu	RCV000248732	missense variant	-	NC_000021.9:g.43058834C>T	ClinVar
CBS	P35520	p.Gly453Trp	rs886057099	missense variant	-	NC_000021.9:g.43058835C>A	gnomAD
CBS	P35520	p.Gly453Glu	rs886039146	missense variant	-	NC_000021.9:g.43058834C>T	gnomAD
CBS	P35520	p.Gly453Arg	rs886057099	missense variant	-	NC_000021.9:g.43058835C>T	gnomAD
CBS	P35520	p.Gly453Trp	RCV000339973	missense variant	Homocystinuria	NC_000021.9:g.43058835C>A	ClinVar
CBS	P35520	p.Val454Ala	rs1398459455	missense variant	-	NC_000021.9:g.43058251A>G	gnomAD
CBS	P35520	p.Val454Glu	VAR_002193	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile455Asn	rs751797189	missense variant	-	NC_000021.9:g.43058248A>T	ExAC,gnomAD
CBS	P35520	p.Leu456Pro	VAR_021803	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met458Thr	rs758500477	missense variant	-	NC_000021.9:g.43058239A>G	ExAC,gnomAD
CBS	P35520	p.Thr460Met	rs752596508	missense variant	-	NC_000021.9:g.43058233G>A	ExAC,gnomAD
CBS	P35520	p.Leu461Phe	rs902200637	missense variant	-	NC_000021.9:g.43058231G>A	TOPMed
CBS	P35520	p.Met464Thr	rs141428279	missense variant	-	NC_000021.9:g.43058221A>G	ESP,ExAC
CBS	P35520	p.Ser466Leu	rs121964971	missense variant	-	NC_000021.9:g.43058215G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser466Leu	rs121964971	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt,dbSNP
CBS	P35520	p.Ser466Leu	VAR_008091	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt
CBS	P35520	p.Ser466Leu	RCV000000153	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058215G>A	ClinVar
CBS	P35520	p.Ser467Phe	rs1237233267	missense variant	-	NC_000021.9:g.43058212G>A	gnomAD
CBS	P35520	p.Gly471Arg	RCV000200328	missense variant	-	NC_000021.9:g.43058201C>T	ClinVar
CBS	P35520	p.Gly471Arg	rs201098477	missense variant	-	NC_000021.9:g.43058201C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly471Arg	RCV000764258	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058201C>T	ClinVar
CBS	P35520	p.Gln474Ter	rs562625029	stop gained	-	NC_000021.9:g.43058192G>A	1000Genomes
CBS	P35520	p.Pro475Leu	rs367711379	missense variant	-	NC_000021.9:g.43058188G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp477Glu	RCV000617298	missense variant	-	NC_000021.9:g.43058181G>T	ClinVar
CBS	P35520	p.Asp477Glu	rs1555871920	missense variant	-	NC_000021.9:g.43058181G>T	-
CBS	P35520	p.Val479Ala	rs886038933	missense variant	-	NC_000021.9:g.43058176A>G	gnomAD
CBS	P35520	p.Val479Ala	RCV000253951	missense variant	-	NC_000021.9:g.43058176A>G	ClinVar
CBS	P35520	p.Ile483Thr	rs746393838	missense variant	-	NC_000021.9:g.43058164A>G	ExAC,gnomAD
CBS	P35520	p.Tyr484Phe	rs1555871913	missense variant	-	NC_000021.9:g.43058161T>A	-
CBS	P35520	p.Tyr484Phe	RCV000557667	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>A	ClinVar
CBS	P35520	p.Tyr484Cys	rs1555871913	missense variant	-	NC_000021.9:g.43058161T>C	-
CBS	P35520	p.Tyr484Cys	RCV000648119	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>C	ClinVar
CBS	P35520	p.Lys485Glu	rs886057098	missense variant	-	NC_000021.9:g.43058159T>C	-
CBS	P35520	p.Lys485Glu	RCV000403386	missense variant	Homocystinuria	NC_000021.9:g.43058159T>C	ClinVar
CBS	P35520	p.Arg491His	RCV000483442	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
CBS	P35520	p.Arg491Cys	rs1339830457	missense variant	-	NC_000021.9:g.43056884G>A	gnomAD
CBS	P35520	p.Arg491His	rs747419767	missense variant	-	NC_000021.9:g.43056883C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg491His	RCV000249170	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
CBS	P35520	p.Thr493Met	rs996249907	missense variant	-	NC_000021.9:g.43056877G>A	TOPMed,gnomAD
CBS	P35520	p.Thr495Met	RCV000482429	missense variant	-	NC_000021.9:g.43056871G>A	ClinVar
CBS	P35520	p.Thr495Ala	rs1292687681	missense variant	-	NC_000021.9:g.43056872T>C	gnomAD
CBS	P35520	p.Thr495Met	rs772344567	missense variant	-	NC_000021.9:g.43056871G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr495Lys	rs772344567	missense variant	-	NC_000021.9:g.43056871G>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr495Met	RCV000463603	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056871G>A	ClinVar
CBS	P35520	p.Ser500Leu	rs755106884	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt,dbSNP
CBS	P35520	p.Ser500Leu	VAR_074594	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt
CBS	P35520	p.Ser500Leu	rs755106884	missense variant	-	NC_000021.9:g.43056856G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser500Ter	RCV000593857	frameshift	-	NC_000021.9:g.43056857_43056858AG[1]	ClinVar
CBS	P35520	p.Leu503Val	rs1265746216	missense variant	-	NC_000021.9:g.43056848G>C	gnomAD
CBS	P35520	p.Met505Ile	rs200613751	missense variant	-	NC_000021.9:g.43056840C>T	1000Genomes,gnomAD
CBS	P35520	p.Asp506Asn	rs1317348103	missense variant	-	NC_000021.9:g.43056839C>T	gnomAD
CBS	P35520	p.Ala509Thr	rs1060500680	missense variant	-	NC_000021.9:g.43056830C>T	TOPMed,gnomAD
CBS	P35520	p.Ala509Val	rs794727161	missense variant	-	NC_000021.9:g.43056829G>A	-
CBS	P35520	p.Ala509Thr	RCV000467733	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056830C>T	ClinVar
CBS	P35520	p.Ala509Val	RCV000174986	missense variant	-	NC_000021.9:g.43056829G>A	ClinVar
CBS	P35520	p.Val511Met	rs1387121972	missense variant	-	NC_000021.9:g.43056824C>T	gnomAD
CBS	P35520	p.His513Arg	rs1328834710	missense variant	-	NC_000021.9:g.43056817T>C	gnomAD
CBS	P35520	p.His513Gln	rs187828882	missense variant	-	NC_000021.9:g.43056816G>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.His513Gln	RCV000424660	missense variant	-	NC_000021.9:g.43056816G>C	ClinVar
CBS	P35520	p.Glu514Gln	rs145228319	missense variant	-	NC_000021.9:g.43056815C>G	ESP,ExAC,gnomAD
CBS	P35520	p.Glu514Lys	rs145228319	missense variant	-	NC_000021.9:g.43056815C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Gln515Ter	rs1463986810	stop gained	-	NC_000021.9:g.43056812G>A	gnomAD
CBS	P35520	p.Ile516Ter	RCV000669346	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056810del	ClinVar
CBS	P35520	p.Gln517His	rs750311684	missense variant	-	NC_000021.9:g.43056804C>G	ExAC,gnomAD
CBS	P35520	p.Tyr518His	rs1198678305	missense variant	-	NC_000021.9:g.43056803A>G	gnomAD
CBS	P35520	p.Gly522Arg	rs201916339	missense variant	-	NC_000021.9:g.43053972C>T	ExAC,gnomAD
CBS	P35520	p.Lys523Ter	RCV000169113	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053972del	ClinVar
CBS	P35520	p.Ser524Pro	rs747984710	missense variant	-	NC_000021.9:g.43053966A>G	ExAC,gnomAD
CBS	P35520	p.Ser525Asn	rs1359693246	missense variant	-	NC_000021.9:g.43053962C>T	gnomAD
CBS	P35520	p.Gln526Ter	RCV000672976	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053960G>A	ClinVar
CBS	P35520	p.Gln526Ter	rs1555869958	stop gained	-	NC_000021.9:g.43053960G>A	-
CBS	P35520	p.Gln526Lys	VAR_046937	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Arg527Trp	rs1455031864	missense variant	-	NC_000021.9:g.43053957G>A	gnomAD
CBS	P35520	p.Phe531Leu	rs768230991	missense variant	-	NC_000021.9:g.43053943G>T	ExAC,gnomAD
CBS	P35520	p.Gly532Arg	rs748953468	missense variant	-	NC_000021.9:g.43053942C>T	ExAC,gnomAD
CBS	P35520	p.Gly532Arg	RCV000696029	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053942C>T	ClinVar
CBS	P35520	p.Gly532Arg	RCV000594688	missense variant	-	NC_000021.9:g.43053942C>T	ClinVar
CBS	P35520	p.Val533Leu	RCV000703932	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053939C>A	ClinVar
CBS	P35520	p.Val534Ile	rs779569366	missense variant	-	NC_000021.9:g.43053936C>T	ExAC,gnomAD
CBS	P35520	p.Val534Asp	VAR_008093	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr535Ter	RCV000666158	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053933_43053934del	ClinVar
CBS	P35520	p.Ala536Thr	rs747522167	missense variant	-	NC_000021.9:g.43053930C>T	ExAC,gnomAD
CBS	P35520	p.Leu539Ser	RCV000675072	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053920A>G	ClinVar
CBS	P35520	p.Leu539Ser	rs121964968	missense variant	-	NC_000021.9:g.43053920A>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Leu539Ser	rs121964968	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt,dbSNP
CBS	P35520	p.Leu539Ser	VAR_002194	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt
CBS	P35520	p.Leu540Gln	VAR_074595	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Val543Met	rs753183931	missense variant	-	NC_000021.9:g.43053909C>T	ExAC,gnomAD
CBS	P35520	p.Ala545Ser	rs139651937	missense variant	-	NC_000021.9:g.43053903C>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala545Gly	rs754031824	missense variant	-	NC_000021.9:g.43053902G>C	ExAC,gnomAD
CBS	P35520	p.Arg548Gln	RCV000227198	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053893C>T	ClinVar
CBS	P35520	p.Arg548Trp	rs766444814	missense variant	-	NC_000021.9:g.43053894G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg548Gln	rs150828989	missense variant	-	NC_000021.9:g.43053893C>T	UniProt,dbSNP
CBS	P35520	p.Arg548Gln	VAR_046938	missense variant	-	NC_000021.9:g.43053893C>T	UniProt
CBS	P35520	p.Arg548Gln	rs150828989	missense variant	-	NC_000021.9:g.43053893C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ter552Cys	rs1365095601	stop lost	-	NC_000021.9:g.43053880T>G	gnomAD
CBS	P35520	p.Ter552Gly	rs767500762	stop lost	-	NC_000021.9:g.43053882A>C	ExAC,gnomAD
CBS	P35520	p.Ter552Cys	RCV000674493	stop lost	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053880T>G	ClinVar
CBS	P35520	p.Met1Thr	RCV000176975	missense variant	-	NC_000021.9:g.43072192A>G	ClinVar
CBS	P35520	p.Pro2Leu	rs546530618	missense variant	-	NC_000021.9:g.43072189G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro2Leu	RCV000200313	missense variant	-	NC_000021.9:g.43072189G>A	ClinVar
CBS	P35520	p.Glu4Asp	rs748832676	missense variant	-	NC_000021.9:g.43072182C>G	ExAC
CBS	P35520	p.Pro6Ser	rs528184368	missense variant	-	NC_000021.9:g.43072178G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Gln7Ter	RCV000409151	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072180dup	ClinVar
CBS	P35520	p.Gln7Ter	RCV000478091	frameshift	-	NC_000021.9:g.43072180dup	ClinVar
CBS	P35520	p.Ala8Gly	rs919403971	missense variant	-	NC_000021.9:g.43072171G>C	TOPMed,gnomAD
CBS	P35520	p.Glu9Gln	rs758092887	missense variant	-	NC_000021.9:g.43072169C>G	ExAC,gnomAD
CBS	P35520	p.Glu9Lys	rs758092887	missense variant	-	NC_000021.9:g.43072169C>T	ExAC,gnomAD
CBS	P35520	p.Glu9Ter	RCV000409242	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072161_43072179del	ClinVar
CBS	P35520	p.Val10Ter	RCV000279971	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072166del	ClinVar
CBS	P35520	p.Val10Met	rs1479837105	missense variant	-	NC_000021.9:g.43072166C>T	gnomAD
CBS	P35520	p.Val10Ter	RCV000723446	frameshift	-	NC_000021.9:g.43072166del	ClinVar
CBS	P35520	p.Gly11Arg	rs1205411379	missense variant	-	NC_000021.9:g.43072163C>T	gnomAD
CBS	P35520	p.Pro12Ser	RCV000704996	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072160G>A	ClinVar
CBS	P35520	p.Pro12Ser	rs558259739	missense variant	-	NC_000021.9:g.43072160G>A	ExAC,gnomAD
CBS	P35520	p.Gly14Val	rs1371674515	missense variant	-	NC_000021.9:g.43072153C>A	gnomAD
CBS	P35520	p.Cys15Phe	rs750850447	missense variant	-	NC_000021.9:g.43072150C>A	ExAC,gnomAD
CBS	P35520	p.His17Leu	rs768172160	missense variant	-	NC_000021.9:g.43072144T>A	ExAC
CBS	P35520	p.Arg18His	rs755850396	missense variant	-	NC_000021.9:g.43072141C>T	gnomAD
CBS	P35520	p.Arg18Ser	rs201827340	missense variant	-	NC_000021.9:g.43072142G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg18Cys	rs201827340	missense variant	-	NC_000021.9:g.43072142G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg18Cys	rs201827340	missense variant	-	NC_000021.9:g.43072142G>A	UniProt,dbSNP
CBS	P35520	p.Arg18Cys	VAR_046921	missense variant	-	NC_000021.9:g.43072142G>A	UniProt
CBS	P35520	p.Arg18Cys	RCV000251012	missense variant	-	NC_000021.9:g.43072142G>A	ClinVar
CBS	P35520	p.Ser19Leu	rs764399291	missense variant	-	NC_000021.9:g.43072138G>A	ExAC,gnomAD
CBS	P35520	p.His22Arg	RCV000197426	missense variant	-	NC_000021.9:g.43072129T>C	ClinVar
CBS	P35520	p.His22Arg	RCV000648122	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072129T>C	ClinVar
CBS	P35520	p.His22Arg	rs763151207	missense variant	-	NC_000021.9:g.43072129T>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser23Thr	rs1378750597	missense variant	-	NC_000021.9:g.43072127A>T	gnomAD
CBS	P35520	p.Ser23Leu	rs775785018	missense variant	-	NC_000021.9:g.43072126G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala24Val	rs759682004	missense variant	-	NC_000021.9:g.43072123G>A	ExAC,gnomAD
CBS	P35520	p.Lys25Asn	rs1484147890	missense variant	-	NC_000021.9:g.43072119C>A	gnomAD
CBS	P35520	p.Gly26Glu	rs746782366	missense variant	-	NC_000021.9:g.43072117C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly26Ala	rs746782366	missense variant	-	NC_000021.9:g.43072117C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser27Asn	rs771748290	missense variant	-	NC_000021.9:g.43072114C>T	ExAC,gnomAD
CBS	P35520	p.Ser27Ile	rs771748290	missense variant	-	NC_000021.9:g.43072114C>A	ExAC,gnomAD
CBS	P35520	p.Ser27Arg	rs530296903	missense variant	-	NC_000021.9:g.43072113G>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu29Lys	rs778653743	missense variant	-	NC_000021.9:g.43072109C>T	ExAC
CBS	P35520	p.Gly31Glu	rs1226779462	missense variant	-	NC_000021.9:g.43072102C>T	gnomAD
CBS	P35520	p.Ser32Pro	rs753430439	missense variant	-	NC_000021.9:g.43072100A>G	ExAC,gnomAD
CBS	P35520	p.Pro33Ser	rs563211474	missense variant	-	NC_000021.9:g.43072097G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Glu34Gly	rs757899237	missense variant	-	NC_000021.9:g.43072093T>C	ExAC,gnomAD
CBS	P35520	p.Asp35Tyr	rs368471318	missense variant	-	NC_000021.9:g.43072091C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp35Asn	rs368471318	missense variant	-	NC_000021.9:g.43072091C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys36Glu	rs904453895	missense variant	-	NC_000021.9:g.43072088T>C	TOPMed,gnomAD
CBS	P35520	p.Lys36Glu	RCV000617634	missense variant	-	NC_000021.9:g.43072088T>C	ClinVar
CBS	P35520	p.Ala38Pro	rs1064795253	missense variant	-	NC_000021.9:g.43072082C>G	gnomAD
CBS	P35520	p.Ala38Thr	rs1064795253	missense variant	-	NC_000021.9:g.43072082C>T	gnomAD
CBS	P35520	p.Ala38Thr	RCV000483422	missense variant	-	NC_000021.9:g.43072082C>T	ClinVar
CBS	P35520	p.Glu40Asp	rs764487170	missense variant	-	NC_000021.9:g.43072074C>A	ExAC,gnomAD
CBS	P35520	p.Pro41Ser	rs763389870	missense variant	-	NC_000021.9:g.43072073G>A	ExAC,gnomAD
CBS	P35520	p.Pro41Leu	rs1315746924	missense variant	-	NC_000021.9:g.43072072G>A	gnomAD
CBS	P35520	p.Trp43Cys	rs1375321603	missense variant	-	NC_000021.9:g.43072065C>A	gnomAD
CBS	P35520	p.Ile44Met	rs1334019279	missense variant	-	NC_000021.9:g.43072062G>C	gnomAD
CBS	P35520	p.Arg45Gln	RCV000620035	missense variant	-	NC_000021.9:g.43072060C>T	ClinVar
CBS	P35520	p.Arg45Trp	rs201372812	missense variant	-	NC_000021.9:g.43072061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg45Gln	rs759502207	missense variant	-	NC_000021.9:g.43072060C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg45Gln	RCV000229516	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072060C>T	ClinVar
CBS	P35520	p.Arg45Trp	RCV000198945	missense variant	-	NC_000021.9:g.43072061G>A	ClinVar
CBS	P35520	p.Pro49Leu	rs148865119	missense variant	-	NC_000021.9:g.43072048G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro49Arg	rs148865119	missense variant	-	NC_000021.9:g.43072048G>C	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro49Leu	RCV000242293	missense variant	-	NC_000021.9:g.43072048G>A	ClinVar
CBS	P35520	p.Arg51Ter	RCV000674825	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072033_43072045del	ClinVar
CBS	P35520	p.Arg51Lys	RCV000486724	missense variant	-	NC_000021.9:g.43072042C>T	ClinVar
CBS	P35520	p.Arg51Lys	rs370983323	missense variant	-	NC_000021.9:g.43072042C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Arg51Ser	rs748795053	missense variant	-	NC_000021.9:g.43072041C>A	ExAC,gnomAD
CBS	P35520	p.Cys52Tyr	rs779777933	missense variant	-	NC_000021.9:g.43072039C>T	ExAC,gnomAD
CBS	P35520	p.Cys52Tyr	RCV000648117	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072039C>T	ClinVar
CBS	P35520	p.Trp54Ter	rs199948079	stop gained	-	NC_000021.9:g.43072032C>T	-
CBS	P35520	p.Trp54Ter	RCV000409663	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072032C>T	ClinVar
CBS	P35520	p.Gln55Lys	rs1292304665	missense variant	-	NC_000021.9:g.43072031G>T	gnomAD
CBS	P35520	p.Leu56Pro	rs1180472259	missense variant	-	NC_000021.9:g.43072027A>G	gnomAD
CBS	P35520	p.Gly57Ser	rs1480938544	missense variant	-	NC_000021.9:g.43072025C>T	gnomAD
CBS	P35520	p.Arg58Trp	rs555959266	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt,dbSNP
CBS	P35520	p.Arg58Trp	VAR_008050	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt
CBS	P35520	p.Arg58Trp	rs555959266	missense variant	-	NC_000021.9:g.43072022G>A	ExAC,gnomAD
CBS	P35520	p.Arg58Gln	rs758648251	missense variant	-	NC_000021.9:g.43072021C>T	ExAC,gnomAD
CBS	P35520	p.Pro59Ser	rs376496085	missense variant	-	NC_000021.9:g.43072019G>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala60Val	rs765352771	missense variant	-	NC_000021.9:g.43072015G>A	ExAC,gnomAD
CBS	P35520	p.Ser61Pro	rs1392721766	missense variant	-	NC_000021.9:g.43072013A>G	gnomAD
CBS	P35520	p.Glu62Lys	rs199507134	missense variant	-	NC_000021.9:g.43072010C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.His65Arg	rs1191141364	missense variant	-	NC_000021.9:g.43072000T>C	gnomAD
CBS	P35520	p.His67Tyr	rs1248573959	missense variant	-	NC_000021.9:g.43071995G>A	gnomAD
CBS	P35520	p.Thr68Ile	rs760770298	missense variant	-	NC_000021.9:g.43071991G>A	ExAC,gnomAD
CBS	P35520	p.Ala69Pro	rs17849313	missense variant	-	NC_000021.9:g.43071989C>G	-
CBS	P35520	p.Ala69Pro	rs17849313	missense variant	-	NC_000021.9:g.43071989C>G	UniProt,dbSNP
CBS	P35520	p.Ala69Pro	VAR_046922	missense variant	-	NC_000021.9:g.43071989C>G	UniProt
CBS	P35520	p.Pro70Arg	rs2229413	missense variant	-	NC_000021.9:g.43071985G>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro70Leu	rs2229413	missense variant	-	NC_000021.9:g.43071985G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro70Leu	RCV000199276	missense variant	-	NC_000021.9:g.43071985G>A	ClinVar
CBS	P35520	p.Ala71Glu	rs761878715	missense variant	-	NC_000021.9:g.43068613G>T	ExAC,gnomAD
CBS	P35520	p.Ala71Val	rs761878715	missense variant	-	NC_000021.9:g.43068613G>A	ExAC,gnomAD
CBS	P35520	p.Lys72Ile	rs192232907	missense variant	-	NC_000021.9:g.43068610T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys72Ile	RCV000547149	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068610T>A	ClinVar
CBS	P35520	p.Ser73Cys	rs763892068	missense variant	-	NC_000021.9:g.43068607G>C	ExAC,gnomAD
CBS	P35520	p.Pro74Leu	RCV000621470	missense variant	-	NC_000021.9:g.43068604G>A	ClinVar
CBS	P35520	p.Pro74Ser	rs1170538361	missense variant	-	NC_000021.9:g.43068605G>A	gnomAD
CBS	P35520	p.Pro74Leu	rs762862715	missense variant	-	NC_000021.9:g.43068604G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys75Asn	rs552179536	missense variant	-	NC_000021.9:g.43068600T>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Pro78Arg	rs786204608	missense variant	-	NC_000021.9:g.43068592G>C	gnomAD
CBS	P35520	p.Pro78Arg	rs786204608	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt,dbSNP
CBS	P35520	p.Pro78Arg	VAR_002171	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt
CBS	P35520	p.Pro78Arg	RCV000169367	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068592G>C	ClinVar
CBS	P35520	p.Ile80Val	rs769608918	missense variant	-	NC_000021.9:g.43068587T>C	ExAC,gnomAD
CBS	P35520	p.Leu81Val	rs1480481730	missense variant	-	NC_000021.9:g.43068584G>C	TOPMed
CBS	P35520	p.Lys82Asn	rs71322504	missense variant	-	NC_000021.9:g.43068579C>A	ExAC,gnomAD
CBS	P35520	p.Lys82Asn	rs71322504	missense variant	-	NC_000021.9:g.43068579C>G	ExAC,gnomAD
CBS	P35520	p.Gly85Arg	rs863223435	missense variant	-	NC_000021.9:g.43068572C>T	gnomAD
CBS	P35520	p.Gly85Arg	RCV000195506	missense variant	-	NC_000021.9:g.43068572C>T	ClinVar
CBS	P35520	p.Asp86Asn	rs776259258	missense variant	-	NC_000021.9:g.43068569C>T	ExAC,gnomAD
CBS	P35520	p.Thr87Ile	rs1239864776	missense variant	-	NC_000021.9:g.43068565G>A	gnomAD
CBS	P35520	p.Thr87Asn	VAR_074590	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro88Ser	VAR_002172	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met89Lys	rs772450760	missense variant	-	NC_000021.9:g.43068559A>T	ExAC,gnomAD
CBS	P35520	p.Met89Ile	rs748617584	missense variant	-	NC_000021.9:g.43068558C>A	ExAC,gnomAD
CBS	P35520	p.Lys94Asn	rs779297627	missense variant	-	NC_000021.9:g.43068543C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile95Thr	rs1347662650	missense variant	-	NC_000021.9:g.43068541A>G	TOPMed,gnomAD
CBS	P35520	p.Ile95Asn	rs1347662650	missense variant	-	NC_000021.9:g.43068541A>T	TOPMed,gnomAD
CBS	P35520	p.Ile95Thr	RCV000557426	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068541A>G	ClinVar
CBS	P35520	p.Phe99Tyr	RCV000459701	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068529A>T	ClinVar
CBS	P35520	p.Phe99Tyr	RCV000497848	missense variant	-	NC_000021.9:g.43068529A>T	ClinVar
CBS	P35520	p.Phe99Tyr	rs112029370	missense variant	-	NC_000021.9:g.43068529A>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Leu	rs749697783	missense variant	-	NC_000021.9:g.43068528G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Ser	rs112029370	missense variant	-	NC_000021.9:g.43068529A>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Leu	RCV000229409	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068528G>C	ClinVar
CBS	P35520	p.Gly100Ser	rs1310019343	missense variant	-	NC_000021.9:g.43068527C>T	TOPMed,gnomAD
CBS	P35520	p.Leu101Val	RCV000310277	missense variant	Homocystinuria	NC_000021.9:g.43068524G>C	ClinVar
CBS	P35520	p.Leu101Val	rs369644531	missense variant	-	NC_000021.9:g.43068524G>C	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Leu101Pro	RCV000169617	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068523A>G	ClinVar
CBS	P35520	p.Leu101Pro	rs786204757	missense variant	-	NC_000021.9:g.43068523A>G	TOPMed
CBS	P35520	p.Leu101Pro	rs786204757	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt,dbSNP
CBS	P35520	p.Leu101Pro	VAR_021791	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt
CBS	P35520	p.Lys102Gln	RCV000394063	missense variant	Homocystinuria	NC_000021.9:g.43068521T>G	ClinVar
CBS	P35520	p.Lys102Gln	rs34040148	missense variant	-	NC_000021.9:g.43068521T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys102Asn	rs786204609	missense variant	-	NC_000021.9:g.43068519C>G	gnomAD
CBS	P35520	p.Lys102Asn	rs786204609	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt,dbSNP
CBS	P35520	p.Lys102Asn	VAR_002173	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt
CBS	P35520	p.Lys102Asn	RCV000169368	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068519C>G	ClinVar
CBS	P35520	p.Cys109Arg	rs778220779	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt,dbSNP
CBS	P35520	p.Cys109Arg	VAR_021792	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt
CBS	P35520	p.Cys109Arg	rs778220779	missense variant	-	NC_000021.9:g.43066369A>G	TOPMed,gnomAD
CBS	P35520	p.Cys109Arg	RCV000535881	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066369A>G	ClinVar
CBS	P35520	p.Ala114Thr	RCV000493781	missense variant	-	NC_000021.9:g.43066354C>T	ClinVar
CBS	P35520	p.Ala114Thr	rs377708532	missense variant	-	NC_000021.9:g.43066354C>T	ExAC,gnomAD
CBS	P35520	p.Ala114Gly	rs121964964	missense variant	-	NC_000021.9:g.43066353G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala114Val	rs121964964	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt,dbSNP
CBS	P35520	p.Ala114Val	VAR_002174	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt
CBS	P35520	p.Ala114Val	rs121964964	missense variant	-	NC_000021.9:g.43066353G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala114Ser	rs377708532	missense variant	-	NC_000021.9:g.43066354C>A	ExAC,gnomAD
CBS	P35520	p.Ala114Val	RCV000490533	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066353G>A	ClinVar
CBS	P35520	p.Gly116Arg	rs760214620	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt,dbSNP
CBS	P35520	p.Gly116Arg	VAR_008053	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt
CBS	P35520	p.Gly116Arg	rs760214620	missense variant	-	NC_000021.9:g.43066348C>T	ExAC,gnomAD
CBS	P35520	p.Gly116Arg	RCV000169116	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066348C>T	ClinVar
CBS	P35520	p.Ser117Ile	rs772768738	missense variant	-	NC_000021.9:g.43066344C>A	ExAC,gnomAD
CBS	P35520	p.Val118Met	rs763385546	missense variant	-	NC_000021.9:g.43066342C>T	ExAC,gnomAD
CBS	P35520	p.Val118Met	RCV000368495	missense variant	Homocystinuria	NC_000021.9:g.43066342C>T	ClinVar
CBS	P35520	p.Asp120Asn	rs1251292223	missense variant	-	NC_000021.9:g.43066336C>T	gnomAD
CBS	P35520	p.Arg121Cys	rs775992753	missense variant	-	NC_000021.9:g.43066333G>A	ExAC,gnomAD
CBS	P35520	p.Arg121Cys	rs775992753	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt,dbSNP
CBS	P35520	p.Arg121Cys	VAR_008054	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt
CBS	P35520	p.Arg121His	RCV000169322	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>T	ClinVar
CBS	P35520	p.Arg121Cys	RCV000196859	missense variant	-	NC_000021.9:g.43066333G>A	ClinVar
CBS	P35520	p.Arg121His	rs770095972	missense variant	-	NC_000021.9:g.43066332C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg121His	rs770095972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt,dbSNP
CBS	P35520	p.Arg121His	VAR_008055	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt
CBS	P35520	p.Arg121Leu	rs770095972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt,dbSNP
CBS	P35520	p.Arg121Leu	VAR_008056	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt
CBS	P35520	p.Arg121Leu	rs770095972	missense variant	-	NC_000021.9:g.43066332C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg121Leu	RCV000190373	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>A	ClinVar
CBS	P35520	p.Ser123Arg	rs1555875387	missense variant	-	NC_000021.9:g.43066325G>T	-
CBS	P35520	p.Ser123Arg	RCV000550221	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066325G>T	ClinVar
CBS	P35520	p.Leu124Arg	rs746251495	missense variant	-	NC_000021.9:g.43066323A>C	ExAC,gnomAD
CBS	P35520	p.Arg125Trp	RCV000667483	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066321G>A	ClinVar
CBS	P35520	p.Arg125Gln	rs781444670	missense variant	-	NC_000021.9:g.43066320C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg125Gln	rs781444670	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt,dbSNP
CBS	P35520	p.Arg125Gln	VAR_002175	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt
CBS	P35520	p.Arg125Trp	rs886057100	missense variant	-	NC_000021.9:g.43066321G>A	gnomAD
CBS	P35520	p.Arg125Gln	RCV000178709	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320C>T	ClinVar
CBS	P35520	p.Arg125Pro	VAR_046923	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met126Ter	RCV000669819	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320_43066323dup	ClinVar
CBS	P35520	p.Met126Val	VAR_008058	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile127Thr	rs771108045	missense variant	-	NC_000021.9:g.43066314A>G	ExAC,gnomAD
CBS	P35520	p.Ile127Val	rs892948151	missense variant	-	NC_000021.9:g.43066315T>C	TOPMed,gnomAD
CBS	P35520	p.Glu128Asp	rs374593242	missense variant	-	NC_000021.9:g.43066310C>G	ExAC,gnomAD
CBS	P35520	p.Glu128Lys	rs1308193541	missense variant	-	NC_000021.9:g.43066312C>T	gnomAD
CBS	P35520	p.Asp129Val	rs1373078731	missense variant	-	NC_000021.9:g.43066308T>A	gnomAD
CBS	P35520	p.Ala130Val	rs1301672360	missense variant	-	NC_000021.9:g.43066305G>A	gnomAD
CBS	P35520	p.Ala130Val	RCV000622233	missense variant	-	NC_000021.9:g.43066305G>A	ClinVar
CBS	P35520	p.Glu131Asp	RCV000534364	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066301C>G	ClinVar
CBS	P35520	p.Glu131Lys	rs1360154930	missense variant	-	NC_000021.9:g.43066303C>T	gnomAD
CBS	P35520	p.Glu131Asp	rs1555875351	missense variant	-	NC_000021.9:g.43066301C>G	-
CBS	P35520	p.Glu131Asp	rs1555875351	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt,dbSNP
CBS	P35520	p.Glu131Asp	VAR_002176	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt
CBS	P35520	p.Arg132Cys	RCV000620847	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132His	rs779011920	missense variant	-	NC_000021.9:g.43066299C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	RCV000726351	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Ser	rs140002610	missense variant	-	NC_000021.9:g.43066300G>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	rs140002610	missense variant	-	NC_000021.9:g.43066300G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	RCV000460928	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Ser	RCV000247887	missense variant	-	NC_000021.9:g.43066300G>T	ClinVar
CBS	P35520	p.Arg132Cys	RCV000195820	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132His	RCV000462847	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066299C>T	ClinVar
CBS	P35520	p.Asp133Asn	RCV000243532	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
CBS	P35520	p.Asp133Asn	RCV000198043	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
CBS	P35520	p.Asp133Asn	rs539326697	missense variant	-	NC_000021.9:g.43066297C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	RCV000469139	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>T	ClinVar
CBS	P35520	p.Gly134Arg	RCV000648115	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>G	ClinVar
CBS	P35520	p.Gly134Ala	rs766958673	missense variant	-	NC_000021.9:g.43066293C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	RCV000196511	missense variant	-	NC_000021.9:g.43066294C>T	ClinVar
CBS	P35520	p.Gly134Ala	RCV000198867	missense variant	-	NC_000021.9:g.43066293C>G	ClinVar
CBS	P35520	p.Gly134Glu	rs766958673	missense variant	-	NC_000021.9:g.43066293C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	rs147474549	missense variant	-	NC_000021.9:g.43066294C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	rs147474549	missense variant	-	NC_000021.9:g.43066294C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr135Ter	RCV000411736	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294del	ClinVar
CBS	P35520	p.Thr135Ter	RCV000674577	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290_43066291delinsC	ClinVar
CBS	P35520	p.Thr135Met	RCV000549296	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290G>A	ClinVar
CBS	P35520	p.Thr135Met	rs144832032	missense variant	-	NC_000021.9:g.43066290G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Leu136Pro	rs775937459	missense variant	-	NC_000021.9:g.43066287A>G	ExAC,gnomAD
CBS	P35520	p.Pro138Ala	rs765702034	missense variant	-	NC_000021.9:g.43066282G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro138Ser	rs765702034	missense variant	-	NC_000021.9:g.43066282G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly139Arg	RCV000000143	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066279C>T	ClinVar
CBS	P35520	p.Gly139Arg	rs121964965	missense variant	-	NC_000021.9:g.43066279C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly139Arg	rs121964965	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt,dbSNP
CBS	P35520	p.Gly139Arg	VAR_008060	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt
CBS	P35520	p.Thr141Met	rs771178320	missense variant	-	NC_000021.9:g.43066272G>A	ExAC,gnomAD
CBS	P35520	p.Ile143Thr	rs772225410	missense variant	-	NC_000021.9:g.43066266A>G	ExAC,gnomAD
CBS	P35520	p.Ile143Met	rs370167302	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt,dbSNP
CBS	P35520	p.Ile143Met	VAR_021793	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt
CBS	P35520	p.Ile143Met	rs370167302	missense variant	-	NC_000021.9:g.43066265G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Gln	rs121964966	missense variant	-	NC_000021.9:g.43066264C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Lys	rs121964966	missense variant	-	NC_000021.9:g.43066264C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Lys	rs121964966	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt,dbSNP
CBS	P35520	p.Glu144Lys	VAR_002177	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt
CBS	P35520	p.Glu144Lys	RCV000169074	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>T	ClinVar
CBS	P35520	p.Glu144Gln	RCV000538588	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>G	ClinVar
CBS	P35520	p.Pro145Leu	rs121964963	missense variant	-	NC_000021.9:g.43066260G>A	gnomAD
CBS	P35520	p.Pro145Leu	rs121964963	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt,dbSNP
CBS	P35520	p.Pro145Leu	VAR_002178	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt
CBS	P35520	p.Pro145Leu	RCV000000139	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066260G>A	ClinVar
CBS	P35520	p.Thr146Ile	rs1458998509	missense variant	-	NC_000021.9:g.43066257G>A	gnomAD
CBS	P35520	p.Gly148Arg	RCV000411624	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066252C>T	ClinVar
CBS	P35520	p.Gly148Arg	rs755952006	missense variant	-	NC_000021.9:g.43066252C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151Trp	rs373782713	missense variant	-	NC_000021.9:g.43066243C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151Arg	rs373782713	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt,dbSNP
CBS	P35520	p.Gly151Arg	VAR_008062	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt
CBS	P35520	p.Gly151Arg	rs373782713	missense variant	-	NC_000021.9:g.43066243C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151_Ala159del	VAR_008063	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile152Met	VAR_008064	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly153Arg	rs745704046	missense variant	-	NC_000021.9:g.43065690C>T	ExAC,gnomAD
CBS	P35520	p.Leu154Gln	VAR_046924	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala155Thr	rs1429138569	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt,dbSNP
CBS	P35520	p.Ala155Thr	VAR_008065	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt
CBS	P35520	p.Ala155Thr	rs1429138569	missense variant	-	NC_000021.9:g.43065684C>T	gnomAD
CBS	P35520	p.Ala155Val	VAR_046925	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Leu156Pro	rs780799772	missense variant	-	NC_000021.9:g.43065680A>G	ExAC,gnomAD
CBS	P35520	p.Leu156Ter	RCV000412346	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065680del	ClinVar
CBS	P35520	p.Ala157Thr	RCV000242064	missense variant	-	NC_000021.9:g.43065678C>T	ClinVar
CBS	P35520	p.Ala157Thr	RCV000527354	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065678C>T	ClinVar
CBS	P35520	p.Ala157Thr	rs199817801	missense variant	-	NC_000021.9:g.43065678C>T	1000Genomes,gnomAD
CBS	P35520	p.Ala158Glu	rs1376851289	missense variant	-	NC_000021.9:g.43065674G>T	gnomAD
CBS	P35520	p.Ala158Val	rs1376851289	missense variant	-	NC_000021.9:g.43065674G>A	gnomAD
CBS	P35520	p.Ala159Thr	rs1452995855	missense variant	-	NC_000021.9:g.43065672C>T	gnomAD
CBS	P35520	p.Gly162Ser	rs751064748	missense variant	-	NC_000021.9:g.43065663C>T	ExAC
CBS	P35520	p.Arg164His	rs757935417	missense variant	-	NC_000021.9:g.43065656C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg164Cys	rs1216829353	missense variant	-	NC_000021.9:g.43065657G>A	gnomAD
CBS	P35520	p.Cys165Gly	RCV000704014	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065654A>C	ClinVar
CBS	P35520	p.Cys165Ser	rs1234354755	missense variant	-	NC_000021.9:g.43065654A>T	gnomAD
CBS	P35520	p.Cys165Tyr	RCV000587735	missense variant	Homocystinuria	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Cys165Tyr	rs1347651454	missense variant	-	NC_000021.9:g.43065653C>T	gnomAD
CBS	P35520	p.Cys165Tyr	RCV000619758	missense variant	-	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Cys165Tyr	RCV000801652	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Ile167Met	rs754246295	missense variant	-	NC_000021.9:g.43065646G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	RCV000250042	missense variant	-	NC_000021.9:g.43065645C>T	ClinVar
CBS	P35520	p.Val168Leu	rs121964970	missense variant	-	NC_000021.9:g.43065645C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	rs121964970	missense variant	-	NC_000021.9:g.43065645C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	rs121964970	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt,dbSNP
CBS	P35520	p.Val168Met	VAR_002180	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt
CBS	P35520	p.Val168Met	RCV000000150	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43065645C>T	ClinVar
CBS	P35520	p.Val168Ala	VAR_046926	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met169Leu	rs1371228792	missense variant	-	NC_000021.9:g.43065642T>A	gnomAD
CBS	P35520	p.Met173Ile	rs750879576	missense variant	-	NC_000021.9:g.43065628C>T	ExAC,gnomAD
CBS	P35520	p.Met173del	VAR_066098	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met173Val	VAR_046927	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ser174Asn	rs1172978385	missense variant	-	NC_000021.9:g.43065626C>T	gnomAD
CBS	P35520	p.Glu176Ter	rs762065361	stop gained	-	NC_000021.9:g.43065621C>A	ExAC,gnomAD
CBS	P35520	p.Glu176Lys	rs762065361	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt,dbSNP
CBS	P35520	p.Glu176Lys	VAR_008066	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt
CBS	P35520	p.Glu176Lys	rs762065361	missense variant	-	NC_000021.9:g.43065621C>T	ExAC,gnomAD
CBS	P35520	p.Glu176Lys	RCV000781199	missense variant	Homocystinuria	NC_000021.9:g.43065621C>T	ClinVar
CBS	P35520	p.Lys177Thr	rs1472673650	missense variant	-	NC_000021.9:g.43065617T>G	gnomAD
CBS	P35520	p.Lys177Asn	RCV000478922	missense variant	-	NC_000021.9:g.43065616C>G	ClinVar
CBS	P35520	p.Lys177Asn	rs1064795022	missense variant	-	NC_000021.9:g.43065616C>G	gnomAD
CBS	P35520	p.Val178Leu	rs370843514	missense variant	-	NC_000021.9:g.43065521C>G	ESP,gnomAD
CBS	P35520	p.Val178Met	rs370843514	missense variant	-	NC_000021.9:g.43065521C>T	ESP,gnomAD
CBS	P35520	p.Val178Met	RCV000279590	missense variant	Homocystinuria	NC_000021.9:g.43065521C>T	ClinVar
CBS	P35520	p.Val180Ala	rs1555875010	missense variant	-	NC_000021.9:g.43065514A>G	-
CBS	P35520	p.Val180Ala	rs1555875010	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt,dbSNP
CBS	P35520	p.Val180Ala	VAR_008067	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt
CBS	P35520	p.Val180Met	rs759402521	missense variant	-	NC_000021.9:g.43065515C>T	ExAC,gnomAD
CBS	P35520	p.Val180Ala	RCV000672889	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065514A>G	ClinVar
CBS	P35520	p.Arg182Gln	rs138314784	missense variant	-	NC_000021.9:g.43065508C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Arg182Trp	rs149649130	missense variant	-	NC_000021.9:g.43065509G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala183Thr	rs772705832	missense variant	-	NC_000021.9:g.43065506C>T	ExAC,gnomAD
CBS	P35520	p.Ala183Val	rs374464810	missense variant	-	NC_000021.9:g.43065505G>A	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala183Gly	rs374464810	missense variant	-	NC_000021.9:g.43065505G>C	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala183Val	RCV000251610	missense variant	-	NC_000021.9:g.43065505G>A	ClinVar
CBS	P35520	p.Ala183Val	RCV000541664	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065505G>A	ClinVar
CBS	P35520	p.Glu187Gly	rs1435269264	missense variant	-	NC_000021.9:g.43065493T>C	gnomAD
CBS	P35520	p.Thr191Met	RCV000576767	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Met	RCV000589097	missense variant	Homocystinuria	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Lys	rs121964973	missense variant	-	NC_000021.9:g.43065481G>T	TOPMed,gnomAD
CBS	P35520	p.Thr191Lys	RCV000497733	missense variant	-	NC_000021.9:g.43065481G>T	ClinVar
CBS	P35520	p.Thr191Met	RCV000195441	missense variant	-	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Met	rs121964973	missense variant	-	NC_000021.9:g.43065481G>A	TOPMed,gnomAD
CBS	P35520	p.Thr191Met	RCV000000155	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Met	rs121964973	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt,dbSNP
CBS	P35520	p.Thr191Met	VAR_008068	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt
CBS	P35520	p.Pro192Leu	rs754553273	missense variant	-	NC_000021.9:g.43065478G>A	ExAC,gnomAD
CBS	P35520	p.Asn194Ser	rs911670352	missense variant	-	NC_000021.9:g.43065472T>C	TOPMed,gnomAD
CBS	P35520	p.Asn194Asp	rs370089875	missense variant	-	NC_000021.9:g.43065473T>C	ESP,ExAC,gnomAD
CBS	P35520	p.Arg196Ser	rs555751528	missense variant	-	NC_000021.9:g.43065465C>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asp198Asn	rs537027536	missense variant	-	NC_000021.9:g.43065461C>T	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asp198Val	VAR_008069	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro200Leu	rs758712880	missense variant	-	NC_000021.9:g.43065454G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro200Leu	rs758712880	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt,dbSNP
CBS	P35520	p.Pro200Leu	VAR_066099	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt
CBS	P35520	p.Val204Met	rs372679328	missense variant	-	NC_000021.9:g.43065443C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val204Met	RCV000197936	missense variant	-	NC_000021.9:g.43065443C>T	ClinVar
CBS	P35520	p.Gly205Glu	rs1367873681	missense variant	-	NC_000021.9:g.43065439C>T	gnomAD
CBS	P35520	p.Val206Met	RCV000200147	missense variant	-	NC_000021.9:g.43065437C>T	ClinVar
CBS	P35520	p.Val206Met	rs369220569	missense variant	-	NC_000021.9:g.43065437C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val206Ala	rs1369398275	missense variant	-	NC_000021.9:g.43065436A>G	gnomAD
CBS	P35520	p.Val206Met	RCV000648123	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065437C>T	ClinVar
CBS	P35520	p.Ala207Thr	rs1462927996	missense variant	-	NC_000021.9:g.43065434C>T	gnomAD
CBS	P35520	p.Trp208Arg	RCV000457277	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065431A>G	ClinVar
CBS	P35520	p.Trp208Cys	rs774174074	missense variant	-	NC_000021.9:g.43065429C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Trp208Ter	rs774174074	stop gained	-	NC_000021.9:g.43065429C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Trp208Arg	rs1060500683	missense variant	-	NC_000021.9:g.43065431A>G	TOPMed,gnomAD
CBS	P35520	p.Trp208Arg	RCV000786286	missense variant	-	NC_000021.9:g.43065431A>G	ClinVar
CBS	P35520	p.Arg209Gln	rs781759129	missense variant	-	NC_000021.9:g.43065427C>T	ExAC,gnomAD
CBS	P35520	p.Arg209Trp	rs137939628	missense variant	-	NC_000021.9:g.43065428G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys211Arg	rs201118737	missense variant	-	NC_000021.9:g.43065421T>C	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asn212Lys	rs2298758	missense variant	-	NC_000021.9:g.43065417G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asn212Lys	RCV000196277	missense variant	-	NC_000021.9:g.43065417G>C	ClinVar
CBS	P35520	p.Glu213Gly	rs1481588195	missense variant	-	NC_000021.9:g.43065415T>C	TOPMed,gnomAD
CBS	P35520	p.Glu213Lys	rs758703098	missense variant	-	NC_000021.9:g.43065416C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro215Ser	rs765471315	missense variant	-	NC_000021.9:g.43065410G>A	ExAC,gnomAD
CBS	P35520	p.Pro215Leu	rs1034007575	missense variant	-	NC_000021.9:g.43065409G>A	TOPMed
CBS	P35520	p.Asn216Ser	rs755015303	missense variant	-	NC_000021.9:g.43065406T>C	ExAC,gnomAD
CBS	P35520	p.Ser217Phe	RCV000673555	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065403G>A	ClinVar
CBS	P35520	p.Ser217Phe	rs1555874874	missense variant	-	NC_000021.9:g.43065403G>A	-
CBS	P35520	p.Ile219Thr	rs1264692707	missense variant	-	NC_000021.9:g.43065397A>G	gnomAD
CBS	P35520	p.Gln222Ter	RCV000778918	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065389G>A	ClinVar
CBS	P35520	p.Tyr223Asp	rs1455474151	missense variant	-	NC_000021.9:g.43065272A>C	gnomAD
CBS	P35520	p.Arg224Cys	RCV000243693	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Cys	RCV000726462	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Leu	rs761647392	missense variant	-	NC_000021.9:g.43065268C>A	ExAC,gnomAD
CBS	P35520	p.Arg224Cys	RCV000556147	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Cys	rs139456571	missense variant	-	NC_000021.9:g.43065269G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg224His	rs761647392	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt,dbSNP
CBS	P35520	p.Arg224His	VAR_002181	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt
CBS	P35520	p.Arg224His	rs761647392	missense variant	-	NC_000021.9:g.43065268C>T	ExAC,gnomAD
CBS	P35520	p.Ala226Pro	rs763835246	missense variant	-	NC_000021.9:g.43065263C>G	ExAC,gnomAD
CBS	P35520	p.Ala226Thr	rs763835246	missense variant	-	NC_000021.9:g.43065263C>T	ExAC,gnomAD
CBS	P35520	p.Ala226Thr	RCV000412334	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065263C>T	ClinVar
CBS	P35520	p.Asn228Ser	RCV000669206	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065256T>C	ClinVar
CBS	P35520	p.Asn228Ser	rs1555874803	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt,dbSNP
CBS	P35520	p.Asn228Ser	VAR_046928	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt
CBS	P35520	p.Asn228Ser	rs1555874803	missense variant	-	NC_000021.9:g.43065256T>C	-
CBS	P35520	p.Asn228Lys	rs1464223176	missense variant	-	NC_000021.9:g.43065255G>C	TOPMed,gnomAD
CBS	P35520	p.Asn228Lys	rs1464223176	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt,dbSNP
CBS	P35520	p.Asn228Lys	VAR_021794	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt
CBS	P35520	p.Pro229Arg	rs775293525	missense variant	-	NC_000021.9:g.43065253G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro229Thr	rs375730175	missense variant	-	NC_000021.9:g.43065254G>T	ESP,ExAC,gnomAD
CBS	P35520	p.Leu230Ter	RCV000198642	frameshift	-	NC_000021.9:g.43065250del	ClinVar
CBS	P35520	p.Leu230Ter	RCV000169175	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065250del	ClinVar
CBS	P35520	p.Leu230Gln	rs1411597530	missense variant	-	NC_000021.9:g.43065250A>T	TOPMed
CBS	P35520	p.Ala231Pro	VAR_046929	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp234Asn	rs773734233	missense variant	-	NC_000021.9:g.43065239C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp234Asn	RCV000199941	missense variant	-	NC_000021.9:g.43065239C>T	ClinVar
CBS	P35520	p.Asp234Asn	RCV000586183	missense variant	Homocystinuria	NC_000021.9:g.43065239C>T	ClinVar
CBS	P35520	p.Asp234del	VAR_046930	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr236Ile	rs981981270	missense variant	-	NC_000021.9:g.43065232G>A	TOPMed
CBS	P35520	p.Thr236Ter	RCV000409103	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065231_43065232delinsCACC	ClinVar
CBS	P35520	p.Ala237Thr	rs1226723382	missense variant	-	NC_000021.9:g.43065230C>T	gnomAD
CBS	P35520	p.Ala237Val	RCV000688536	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065229G>A	ClinVar
CBS	P35520	p.Asp238Ala	rs1364919198	missense variant	-	NC_000021.9:g.43065226T>G	gnomAD
CBS	P35520	p.Glu239Lys	VAR_002182	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gln242His	rs1388788227	missense variant	-	NC_000021.9:g.43065213C>A	gnomAD
CBS	P35520	p.Gln243His	rs749466749	missense variant	-	NC_000021.9:g.43065210C>G	ExAC,gnomAD
CBS	P35520	p.Gly246Glu	rs1441519122	missense variant	-	NC_000021.9:g.43063991C>T	gnomAD
CBS	P35520	p.Lys247_Gly256del	VAR_046931	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp249Asn	rs767397847	missense variant	-	NC_000021.9:g.43063983C>T	gnomAD
CBS	P35520	p.Met250Lys	RCV000648121	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063979A>T	ClinVar
CBS	P35520	p.Met250Ile	rs863223431	missense variant	-	NC_000021.9:g.43063978C>T	gnomAD
CBS	P35520	p.Met250Lys	rs1555874564	missense variant	-	NC_000021.9:g.43063979A>T	-
CBS	P35520	p.Met250Leu	rs777884368	missense variant	-	NC_000021.9:g.43063980T>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Met250Ile	RCV000800742	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063978C>T	ClinVar
CBS	P35520	p.Met250Ile	rs863223431	missense variant	-	NC_000021.9:g.43063978C>G	gnomAD
CBS	P35520	p.Met250Ile	RCV000198250	missense variant	-	NC_000021.9:g.43063978C>T	ClinVar
CBS	P35520	p.Leu251Pro	rs1176770868	missense variant	-	NC_000021.9:g.43063976A>G	gnomAD
CBS	P35520	p.Leu251Pro	RCV000671309	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063976A>G	ClinVar
CBS	P35520	p.Ser254Pro	rs1470764055	missense variant	-	NC_000021.9:g.43063968A>G	gnomAD
CBS	P35520	p.Val255Gly	rs1409259346	missense variant	-	NC_000021.9:g.43063964A>C	gnomAD
CBS	P35520	p.Gly256Ser	rs1000697114	missense variant	-	NC_000021.9:g.43063962C>T	TOPMed
CBS	P35520	p.Gly256Val	rs1157774154	missense variant	-	NC_000021.9:g.43063961C>A	gnomAD
CBS	P35520	p.Thr257Met	rs758236584	missense variant	-	NC_000021.9:g.43063958G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr257Met	RCV000169294	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063958G>A	ClinVar
CBS	P35520	p.Gly259Ser	RCV000648118	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063953C>T	ClinVar
CBS	P35520	p.Gly259Asp	rs1242898623	missense variant	-	NC_000021.9:g.43063952C>T	gnomAD
CBS	P35520	p.Gly259Ser	rs143124288	missense variant	-	NC_000021.9:g.43063953C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Thr262Met	RCV000200469	missense variant	-	NC_000021.9:g.43063943G>A	ClinVar
CBS	P35520	p.Thr262Met	rs149119723	missense variant	-	NC_000021.9:g.43063943G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr262Arg	VAR_021795	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile264Thr	rs760212248	missense variant	-	NC_000021.9:g.43063937A>G	ExAC,gnomAD
CBS	P35520	p.Ala265Val	rs1351478245	missense variant	-	NC_000021.9:g.43063934G>A	gnomAD
CBS	P35520	p.Arg266Lys	rs121964969	missense variant	-	NC_000021.9:g.43063931C>T	gnomAD
CBS	P35520	p.Arg266Lys	rs121964969	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt,dbSNP
CBS	P35520	p.Arg266Lys	VAR_008074	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt
CBS	P35520	p.Arg266Lys	RCV000469164	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063931C>T	ClinVar
CBS	P35520	p.Arg266Gly	VAR_008073	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys269del	VAR_074591	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu270Lys	rs1337180584	missense variant	-	NC_000021.9:g.43063920C>T	gnomAD
CBS	P35520	p.Glu270del	VAR_008075	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Cys272Ter	RCV000507871	nonsense	-	NC_000021.9:g.43063912A>T	ClinVar
CBS	P35520	p.Cys272Ter	RCV000673238	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063912A>T	ClinVar
CBS	P35520	p.Cys272Ter	rs528689432	stop gained	-	NC_000021.9:g.43063912A>T	-
CBS	P35520	p.Pro273Leu	rs1386009525	missense variant	-	NC_000021.9:g.43063910G>A	gnomAD
CBS	P35520	p.Cys275Ter	rs764638041	stop gained	-	NC_000021.9:g.43063903G>T	ExAC,gnomAD
CBS	P35520	p.Cys275Tyr	VAR_021796	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Arg276Lys	rs1400846504	missense variant	-	NC_000021.9:g.43063901C>T	gnomAD
CBS	P35520	p.Ile277Leu	rs756816076	missense variant	-	NC_000021.9:g.43063078T>G	ExAC
CBS	P35520	p.Ile278Thr	rs5742905	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt,dbSNP
CBS	P35520	p.Ile278Thr	VAR_002184	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt
CBS	P35520	p.Ile278Thr	rs5742905	missense variant	-	NC_000021.9:g.43063074A>G	1000Genomes,ESP,TOPMed
CBS	P35520	p.Ile278Thr	RCV000173640	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000000142	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000000141	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000507410	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000078111	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000249462	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000781197	missense variant	Homocystinuria	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Ser	VAR_066100	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly279Ter	RCV000508400	frameshift	-	NC_000021.9:g.43063075_43063076insTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGAT	ClinVar
CBS	P35520	p.Val280Ala	rs1170192852	missense variant	-	NC_000021.9:g.43063068A>G	gnomAD
CBS	P35520	p.Asp281Asn	VAR_066101	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro282Ser	RCV000413391	missense variant	-	NC_000021.9:g.43063063G>A	ClinVar
CBS	P35520	p.Pro282ProSerArgTrpGlyPheCysTrpAlaTerAlaLeuLysProArgProLeuGlnIleIleGlyValAspUnk	rs1555874223	stop gained	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	-
CBS	P35520	p.Pro282ProLysGlyProSerSerGlnSerArgArgSerTerThrArgArgSerArgGlnProThrArgTrpAsnUnk	rs786200967	stop gained	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	-
CBS	P35520	p.Pro282Ser	rs1057518515	missense variant	-	NC_000021.9:g.43063063G>A	-
CBS	P35520	p.Glu283SerArgTrpGlyPheCysTrpAlaTer	RCV000243626	nonsense	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	ClinVar
CBS	P35520	p.Glu283Lys	rs765811825	missense variant	-	NC_000021.9:g.43063060C>T	ExAC,gnomAD
CBS	P35520	p.Glu283LysGlyProSerSerGlnSerArgArgSerTer	RCV000152935	nonsense	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	ClinVar
CBS	P35520	p.Gly284Arg	rs1480171482	missense variant	-	NC_000021.9:g.43063057C>T	gnomAD
CBS	P35520	p.Ile286Val	RCV000731875	missense variant	-	NC_000021.9:g.43063051T>C	ClinVar
CBS	P35520	p.Ile286Thr	rs1060500681	missense variant	-	NC_000021.9:g.43063050A>G	-
CBS	P35520	p.Ile286Val	rs147040567	missense variant	-	NC_000021.9:g.43063051T>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile286Val	RCV000648120	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063051T>C	ClinVar
CBS	P35520	p.Ile286Thr	RCV000477458	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063050A>G	ClinVar
CBS	P35520	p.Ala288Thr	RCV000671575	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063045C>T	ClinVar
CBS	P35520	p.Ala288Thr	rs141502207	missense variant	-	NC_000021.9:g.43063045C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Ala288Thr	rs141502207	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt,dbSNP
CBS	P35520	p.Ala288Thr	VAR_046933	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt
CBS	P35520	p.Ala288Ser	rs141502207	missense variant	-	NC_000021.9:g.43063045C>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala288Pro	VAR_046932	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro290Gln	rs760912339	missense variant	-	NC_000021.9:g.43063038G>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro290Leu	rs760912339	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt,dbSNP
CBS	P35520	p.Pro290Leu	VAR_002185	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt
CBS	P35520	p.Pro290Leu	rs760912339	missense variant	-	NC_000021.9:g.43063038G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu291Asp	rs201155833	missense variant	-	NC_000021.9:g.43063034C>A	1000Genomes,TOPMed
CBS	P35520	p.Glu292Leu	RCV000482632	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	ClinVar
CBS	P35520	p.Glu292Lys	rs761995096	missense variant	-	NC_000021.9:g.43063033C>T	ExAC,gnomAD
CBS	P35520	p.Glu292Ter	rs761995096	stop gained	-	NC_000021.9:g.43063033C>A	ExAC,gnomAD
CBS	P35520	p.Glu292Val	rs774134517	missense variant	-	NC_000021.9:g.43063032T>A	ExAC,gnomAD
CBS	P35520	p.Glu292Leu	rs1064795178	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	-
CBS	P35520	p.Gln295Glu	rs562885611	missense variant	-	NC_000021.9:g.43063024G>C	1000Genomes,TOPMed
CBS	P35520	p.Thr296Arg	rs562530775	missense variant	-	NC_000021.9:g.43063020G>C	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Thr296Met	RCV000558244	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063020G>A	ClinVar
CBS	P35520	p.Thr296Met	rs562530775	missense variant	-	NC_000021.9:g.43063020G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Glu297Ter	rs1298089659	stop gained	-	NC_000021.9:g.43063018C>A	gnomAD
CBS	P35520	p.Thr300Ala	rs780856971	missense variant	-	NC_000021.9:g.43063009T>C	ExAC,gnomAD
CBS	P35520	p.Tyr301Ter	rs746575551	stop gained	-	NC_000021.9:g.43063004G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Tyr301Ter	RCV000411137	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063004G>C	ClinVar
CBS	P35520	p.Glu302Lys	rs779270933	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt,dbSNP
CBS	P35520	p.Glu302Lys	VAR_008076	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt
CBS	P35520	p.Glu302Lys	RCV000723460	missense variant	-	NC_000021.9:g.43063003C>T	ClinVar
CBS	P35520	p.Glu302Lys	rs779270933	missense variant	-	NC_000021.9:g.43063003C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly305Trp	rs1178687976	missense variant	-	NC_000021.9:g.43062994C>A	gnomAD
CBS	P35520	p.Gly305Arg	VAR_008077	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly307Ser	RCV000078112	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000618753	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000366433	missense variant	Homocystinuria	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000000137	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000173641	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	rs121964962	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt,dbSNP
CBS	P35520	p.Gly307Ser	VAR_002186	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt
CBS	P35520	p.Gly307Ser	rs121964962	missense variant	-	NC_000021.9:g.43062988C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly307Ser	RCV000000138	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Asp309Asn	rs540013184	missense variant	-	NC_000021.9:g.43062982C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile311Leu	rs1323813663	missense variant	-	NC_000021.9:g.43062976T>G	gnomAD
CBS	P35520	p.Pro312His	rs761787042	missense variant	-	NC_000021.9:g.43062972G>T	ExAC,gnomAD
CBS	P35520	p.Thr313Met	rs774557878	missense variant	-	NC_000021.9:g.43062969G>A	ExAC,gnomAD
CBS	P35520	p.Val314Met	rs762823766	missense variant	-	NC_000021.9:g.43062967C>T	ExAC,gnomAD
CBS	P35520	p.Val314Ala	rs1438933819	missense variant	-	NC_000021.9:g.43062966A>G	gnomAD
CBS	P35520	p.Arg317Gly	rs775432669	missense variant	-	NC_000021.9:g.43062958T>C	ExAC,gnomAD
CBS	P35520	p.Thr318Met	RCV000755893	missense variant	-	NC_000021.9:g.43062954G>A	ClinVar
CBS	P35520	p.Thr318Met	RCV000468076	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062954G>A	ClinVar
CBS	P35520	p.Thr318Met	rs769541394	missense variant	-	NC_000021.9:g.43062954G>A	ExAC,gnomAD
CBS	P35520	p.Val320Ala	rs781567152	missense variant	-	NC_000021.9:g.43062391A>G	ExAC,gnomAD
CBS	P35520	p.Val320Ala	rs781567152	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt,dbSNP
CBS	P35520	p.Val320Ala	VAR_008078	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt
CBS	P35520	p.Val320Ala	RCV000410016	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062391A>G	ClinVar
CBS	P35520	p.Val320Ala	RCV000780081	missense variant	Homocystinuria	NC_000021.9:g.43062391A>G	ClinVar
CBS	P35520	p.Asp321Gly	rs1225612737	missense variant	-	NC_000021.9:g.43062388T>C	gnomAD
CBS	P35520	p.Asp321Val	VAR_066102	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys322Thr	rs751768786	missense variant	-	NC_000021.9:g.43062385T>G	ExAC,gnomAD
CBS	P35520	p.Lys322Glu	rs757588995	missense variant	-	NC_000021.9:g.43062386T>C	ExAC,gnomAD
CBS	P35520	p.Trp323Ter	rs863223432	stop gained	-	NC_000021.9:g.43062381C>T	gnomAD
CBS	P35520	p.Trp323Ter	RCV000197013	nonsense	-	NC_000021.9:g.43062381C>T	ClinVar
CBS	P35520	p.Trp323Ter	RCV000363392	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062381C>T	ClinVar
CBS	P35520	p.Asp328Asn	rs758447354	missense variant	-	NC_000021.9:g.43062368C>T	ExAC,gnomAD
CBS	P35520	p.Asp328Asn	RCV000665455	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062368C>T	ClinVar
CBS	P35520	p.Asp328Asn	RCV000755891	missense variant	-	NC_000021.9:g.43062368C>T	ClinVar
CBS	P35520	p.Glu329Gly	rs1165948778	missense variant	-	NC_000021.9:g.43062364T>C	gnomAD
CBS	P35520	p.Glu329Asp	rs765151853	missense variant	-	NC_000021.9:g.43062363C>G	ExAC,gnomAD
CBS	P35520	p.Ala331Ser	rs1194877209	missense variant	-	NC_000021.9:g.43062359C>A	gnomAD
CBS	P35520	p.Ala331Val	RCV000173977	missense variant	-	NC_000021.9:g.43062358G>A	ClinVar
CBS	P35520	p.Ala331Val	rs777919630	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt,dbSNP
CBS	P35520	p.Ala331Val	VAR_002187	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt
CBS	P35520	p.Ala331Val	rs777919630	missense variant	-	NC_000021.9:g.43062358G>A	TOPMed,gnomAD
CBS	P35520	p.Ala331Glu	rs777919630	missense variant	-	NC_000021.9:g.43062358G>T	TOPMed,gnomAD
CBS	P35520	p.Ala331Glu	rs777919630	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt,dbSNP
CBS	P35520	p.Ala331Glu	VAR_008079	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt
CBS	P35520	p.Ala331Glu	RCV000547604	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062358G>T	ClinVar
CBS	P35520	p.AlaArg335AlaCys	rs1064793703	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	-
CBS	P35520	p.Arg336Cys	RCV000487415	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	ClinVar
CBS	P35520	p.Arg336Ter	RCV000670102	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062340_43062343del	ClinVar
CBS	P35520	p.Arg336Cys	RCV000169310	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062344G>A	ClinVar
CBS	P35520	p.Arg336Cys	rs398123151	missense variant	-	NC_000021.9:g.43062344G>A	ExAC,gnomAD
CBS	P35520	p.Arg336His	rs760417941	missense variant	-	NC_000021.9:g.43062343C>T	ExAC,gnomAD
CBS	P35520	p.Arg336His	rs760417941	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt,dbSNP
CBS	P35520	p.Arg336His	VAR_008080	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt
CBS	P35520	p.Arg336Cys	RCV000078105	missense variant	-	NC_000021.9:g.43062344G>A	ClinVar
CBS	P35520	p.Arg336His	RCV000409189	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062343C>T	ClinVar
CBS	P35520	p.Arg336Leu	rs760417941	missense variant	-	NC_000021.9:g.43062343C>A	ExAC,gnomAD
CBS	P35520	p.Met337Leu	RCV000199004	missense variant	-	NC_000021.9:g.43062341T>G	ClinVar
CBS	P35520	p.Met337Val	RCV000243887	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
CBS	P35520	p.Met337Val	RCV000196067	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
CBS	P35520	p.Met337Val	rs372822486	missense variant	-	NC_000021.9:g.43062341T>C	ESP,ExAC,gnomAD
CBS	P35520	p.Met337Arg	rs771910579	missense variant	-	NC_000021.9:g.43062340A>C	ExAC,gnomAD
CBS	P35520	p.Met337Leu	rs372822486	missense variant	-	NC_000021.9:g.43062341T>G	ESP,ExAC,gnomAD
CBS	P35520	p.Leu338Pro	VAR_021797	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala340Thr	rs1321607022	missense variant	-	NC_000021.9:g.43062332C>T	gnomAD
CBS	P35520	p.Ala340Val	rs1282760211	missense variant	-	NC_000021.9:g.43062331G>A	gnomAD
CBS	P35520	p.Gly347Ser	rs771298943	missense variant	-	NC_000021.9:g.43062311C>T	ExAC,gnomAD
CBS	P35520	p.Gly347Ser	RCV000197584	missense variant	-	NC_000021.9:g.43062311C>T	ClinVar
CBS	P35520	p.Gly347Cys	rs771298943	missense variant	-	NC_000021.9:g.43062311C>A	ExAC,gnomAD
CBS	P35520	p.Gly347Ser	RCV000780082	missense variant	Homocystinuria	NC_000021.9:g.43062311C>T	ClinVar
CBS	P35520	p.Ser349Gly	rs763890444	missense variant	-	NC_000021.9:g.43060541T>C	ExAC,gnomAD
CBS	P35520	p.Ser349Thr	rs973369208	missense variant	-	NC_000021.9:g.43060540C>G	TOPMed
CBS	P35520	p.Ser349Asn	VAR_021799	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala350Val	rs1400722415	missense variant	-	NC_000021.9:g.43060537G>A	gnomAD
CBS	P35520	p.Ala350Ser	rs762513900	missense variant	-	NC_000021.9:g.43060538C>A	ExAC,gnomAD
CBS	P35520	p.Gly351Arg	RCV000195902	missense variant	-	NC_000021.9:g.43060535C>G	ClinVar
CBS	P35520	p.Gly351Asp	rs1160971811	missense variant	-	NC_000021.9:g.43060534C>T	gnomAD
CBS	P35520	p.Gly351Arg	rs774926464	missense variant	-	NC_000021.9:g.43060535C>G	ExAC,gnomAD
CBS	P35520	p.Ser352Asn	VAR_008081	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr353Met	RCV000169466	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060528G>A	ClinVar
CBS	P35520	p.Thr353Met	rs121964972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt,dbSNP
CBS	P35520	p.Thr353Met	VAR_008082	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt
CBS	P35520	p.Thr353Met	rs121964972	missense variant	-	NC_000021.9:g.43060528G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val354Ala	rs773726723	missense variant	-	NC_000021.9:g.43060525A>G	ExAC,gnomAD
CBS	P35520	p.Ala355Pro	rs1192581453	missense variant	-	NC_000021.9:g.43060523C>G	gnomAD
CBS	P35520	p.Ala355Val	RCV000598006	missense variant	-	NC_000021.9:g.43060522G>A	ClinVar
CBS	P35520	p.Ala355Thr	rs1192581453	missense variant	-	NC_000021.9:g.43060523C>T	gnomAD
CBS	P35520	p.Ala355Val	rs772384826	missense variant	-	NC_000021.9:g.43060522G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val356Gly	rs370163789	missense variant	-	NC_000021.9:g.43060519A>C	gnomAD
CBS	P35520	p.Val356Ala	rs370163789	missense variant	-	NC_000021.9:g.43060519A>G	gnomAD
CBS	P35520	p.Val356Met	rs1220129204	missense variant	-	NC_000021.9:g.43060520C>T	gnomAD
CBS	P35520	p.Val356Ala	RCV000618875	missense variant	-	NC_000021.9:g.43060519A>G	ClinVar
CBS	P35520	p.Ala357Thr	rs1292263120	missense variant	-	NC_000021.9:g.43060517C>T	gnomAD
CBS	P35520	p.Ala357Gly	rs863223437	missense variant	-	NC_000021.9:g.43060516G>C	TOPMed,gnomAD
CBS	P35520	p.Ala357Val	rs863223437	missense variant	-	NC_000021.9:g.43060516G>A	TOPMed,gnomAD
CBS	P35520	p.Ala357Gly	RCV000473415	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060516G>C	ClinVar
CBS	P35520	p.Ala357Gly	RCV000199512	missense variant	-	NC_000021.9:g.43060516G>C	ClinVar
CBS	P35520	p.Val358Met	RCV000474043	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Val358Leu	rs148589243	missense variant	-	NC_000021.9:g.43060514C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val358Met	rs148589243	missense variant	-	NC_000021.9:g.43060514C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val358Met	RCV000199585	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Val358Met	RCV000420634	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Lys359Asn	rs1300646763	missense variant	-	NC_000021.9:g.43060509C>G	gnomAD
CBS	P35520	p.Lys359Met	rs779940364	missense variant	-	NC_000021.9:g.43060510T>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala360Asp	rs1365464994	missense variant	-	NC_000021.9:g.43060507G>T	gnomAD
CBS	P35520	p.Ala360Thr	rs1423323590	missense variant	-	NC_000021.9:g.43060508C>T	gnomAD
CBS	P35520	p.AlaAla360AlaThr	rs1555873407	missense variant	-	NC_000021.9:g.43060505_43060506delinsTA	-
CBS	P35520	p.Ala360Val	rs1365464994	missense variant	-	NC_000021.9:g.43060507G>A	gnomAD
CBS	P35520	p.Ala361Thr	RCV000648114	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060505_43060506delinsTA	ClinVar
CBS	P35520	p.Ala361Val	rs370851632	missense variant	-	NC_000021.9:g.43060504G>A	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala361Thr	rs745764562	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt,dbSNP
CBS	P35520	p.Ala361Thr	VAR_046934	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt
CBS	P35520	p.Ala361Thr	rs745764562	missense variant	-	NC_000021.9:g.43060505C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala361Val	RCV000576355	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060504G>A	ClinVar
CBS	P35520	p.Glu363Ter	RCV000482968	frameshift	-	NC_000021.9:g.43060500del	ClinVar
CBS	P35520	p.Glu363Lys	rs1478217276	missense variant	-	NC_000021.9:g.43060499C>T	gnomAD
CBS	P35520	p.Leu364Pro	rs1265455165	missense variant	-	NC_000021.9:g.43060495A>G	gnomAD
CBS	P35520	p.Glu366Lys	rs757098275	missense variant	-	NC_000021.9:g.43060490C>T	ExAC,gnomAD
CBS	P35520	p.Gly367Ser	rs1269436351	missense variant	-	NC_000021.9:g.43060487C>T	gnomAD
CBS	P35520	p.Arg369Cys	RCV000231839	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060481G>A	ClinVar
CBS	P35520	p.Arg369Cys	rs117687681	missense variant	-	NC_000021.9:g.43060481G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg369Pro	rs11700812	missense variant	-	NC_000021.9:g.43060480C>G	ExAC,gnomAD
CBS	P35520	p.Arg369Cys	RCV000242755	missense variant	-	NC_000021.9:g.43060481G>A	ClinVar
CBS	P35520	p.Arg369His	rs11700812	missense variant	-	NC_000021.9:g.43060480C>T	ExAC,gnomAD
CBS	P35520	p.Cys370Tyr	RCV000482454	missense variant	-	NC_000021.9:g.43060477C>T	ClinVar
CBS	P35520	p.Cys370Arg	rs1192694513	missense variant	-	NC_000021.9:g.43060478A>G	gnomAD
CBS	P35520	p.Cys370Tyr	rs757920190	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt,dbSNP
CBS	P35520	p.Cys370Tyr	VAR_008085	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt
CBS	P35520	p.Cys370Tyr	rs757920190	missense variant	-	NC_000021.9:g.43060477C>T	ExAC,gnomAD
CBS	P35520	p.Val371Met	RCV000196393	missense variant	-	NC_000021.9:g.43060475C>T	ClinVar
CBS	P35520	p.Val371Met	rs372010465	missense variant	-	NC_000021.9:g.43060475C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val371Leu	rs372010465	missense variant	-	NC_000021.9:g.43060475C>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val371Met	rs372010465	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt,dbSNP
CBS	P35520	p.Val371Met	VAR_002190	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt
CBS	P35520	p.Val372Phe	rs775354680	missense variant	-	NC_000021.9:g.43060472C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val372Ile	rs775354680	missense variant	-	NC_000021.9:g.43060472C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val372Phe	RCV000200072	missense variant	-	NC_000021.9:g.43060472C>A	ClinVar
CBS	P35520	p.Asp376Asn	rs1170128038	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt,dbSNP
CBS	P35520	p.Asp376Asn	VAR_046935	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt
CBS	P35520	p.Asp376Asn	rs1170128038	missense variant	-	NC_000021.9:g.43060460C>T	gnomAD
CBS	P35520	p.Ser377Thr	rs920511437	missense variant	-	NC_000021.9:g.43060457A>T	TOPMed
CBS	P35520	p.Val378Leu	rs547713475	missense variant	-	NC_000021.9:g.43060454C>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Arg379Trp	rs769080151	missense variant	-	NC_000021.9:g.43060451G>A	ExAC,gnomAD
CBS	P35520	p.Arg379Trp	rs769080151	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt,dbSNP
CBS	P35520	p.Arg379Trp	VAR_046936	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt
CBS	P35520	p.Arg379Gln	RCV000169171	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060450C>T	ClinVar
CBS	P35520	p.Arg379Gln	rs763036586	missense variant	-	NC_000021.9:g.43060450C>T	ExAC,gnomAD
CBS	P35520	p.Arg379Trp	RCV000763061	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060451G>A	ClinVar
CBS	P35520	p.Arg379Gln	rs763036586	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt,dbSNP
CBS	P35520	p.Arg379Gln	VAR_021801	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt
CBS	P35520	p.Thr383Ile	RCV000701888	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059301G>A	ClinVar
CBS	P35520	p.Lys384Glu	rs121964967	missense variant	-	NC_000021.9:g.43059299T>C	-
CBS	P35520	p.Lys384Glu	rs121964967	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt,dbSNP
CBS	P35520	p.Lys384Glu	VAR_002191	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt
CBS	P35520	p.Lys384Glu	RCV000000145	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43059299T>C	ClinVar
CBS	P35520	p.Lys384Asn	VAR_008086	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp388Gly	rs1421332904	missense variant	-	NC_000021.9:g.43059286T>C	gnomAD
CBS	P35520	p.Asp388Asn	rs375513996	missense variant	-	NC_000021.9:g.43059287C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp388Tyr	rs375513996	missense variant	-	NC_000021.9:g.43059287C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg389Thr	RCV000596015	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
CBS	P35520	p.Arg389Thr	RCV000620693	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
CBS	P35520	p.Arg389Lys	rs1383178636	missense variant	-	NC_000021.9:g.43059283C>T	gnomAD
CBS	P35520	p.Arg389Thr	rs1383178636	missense variant	-	NC_000021.9:g.43059283C>G	gnomAD
CBS	P35520	p.Met391Ile	VAR_008087	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys394Arg	rs1424033329	missense variant	-	NC_000021.9:g.43059268T>C	gnomAD
CBS	P35520	p.Gly395Val	rs1257759867	missense variant	-	NC_000021.9:g.43059265C>A	gnomAD
CBS	P35520	p.Glu399Lys	rs1485255027	missense variant	-	NC_000021.9:g.43059254C>T	gnomAD
CBS	P35520	p.Leu402Ile	rs763217939	missense variant	-	NC_000021.9:g.43059245G>T	ExAC,gnomAD
CBS	P35520	p.Leu402Pro	rs371214833	missense variant	-	NC_000021.9:g.43059244A>G	ESP,ExAC,gnomAD
CBS	P35520	p.Leu402Pro	RCV000555545	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059244A>G	ClinVar
CBS	P35520	p.Thr403Met	rs886042297	missense variant	-	NC_000021.9:g.43059241G>A	gnomAD
CBS	P35520	p.Thr403Met	RCV000372121	missense variant	-	NC_000021.9:g.43059241G>A	ClinVar
CBS	P35520	p.Glu404Asp	rs376942014	missense variant	-	NC_000021.9:g.43059237C>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys405Gln	rs570121873	missense variant	-	NC_000021.9:g.43059236T>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Lys405Ter	rs570121873	stop gained	-	NC_000021.9:g.43059236T>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Lys406Arg	rs766523013	missense variant	-	NC_000021.9:g.43059232T>C	ExAC,gnomAD
CBS	P35520	p.Lys406Gln	rs992398873	missense variant	-	NC_000021.9:g.43059233T>G	TOPMed,gnomAD
CBS	P35520	p.Lys406Ter	RCV000174443	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059231del	ClinVar
CBS	P35520	p.Lys406Ter	RCV000724407	frameshift	-	NC_000021.9:g.43059231del	ClinVar
CBS	P35520	p.Trp408Ter	RCV000588547	frameshift	Homocystinuria	NC_000021.9:g.43059230del	ClinVar
CBS	P35520	p.Trp408Ter	RCV000666270	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059230del	ClinVar
CBS	P35520	p.Trp408Cys	rs1445695397	missense variant	-	NC_000021.9:g.43058968C>A	gnomAD
CBS	P35520	p.Trp408Ter	rs863223433	stop gained	-	NC_000021.9:g.43059226C>T	-
CBS	P35520	p.Trp408Ter	RCV000196138	nonsense	-	NC_000021.9:g.43059226C>T	ClinVar
CBS	P35520	p.Trp409Ter	rs376916741	stop gained	-	NC_000021.9:g.43058966C>T	ExAC,gnomAD
CBS	P35520	p.Trp409Leu	rs376916741	missense variant	-	NC_000021.9:g.43058966C>A	ExAC,gnomAD
CBS	P35520	p.Trp409Ter	rs1332950288	stop gained	-	NC_000021.9:g.43058965C>T	gnomAD
CBS	P35520	p.Trp410Ter	rs1467814360	stop gained	-	NC_000021.9:g.43058962C>T	gnomAD
CBS	P35520	p.His411Asn	rs1404697104	missense variant	-	NC_000021.9:g.43058961G>T	gnomAD
CBS	P35520	p.Arg413His	rs574577579	missense variant	-	NC_000021.9:g.43058954C>T	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Arg413Cys	rs767595472	missense variant	-	NC_000021.9:g.43058955G>A	ExAC,gnomAD
CBS	P35520	p.Val414Ile	rs1379816380	missense variant	-	NC_000021.9:g.43058952C>T	gnomAD
CBS	P35520	p.Gln415Arg	rs1180174934	missense variant	-	NC_000021.9:g.43058948T>C	gnomAD
CBS	P35520	p.Glu416Gln	rs751477766	missense variant	-	NC_000021.9:g.43058946C>G	ExAC,gnomAD
CBS	P35520	p.Gly418Asp	rs1460109011	missense variant	-	NC_000021.9:g.43058939C>T	gnomAD
CBS	P35520	p.Gly418Ser	rs1200734227	missense variant	-	NC_000021.9:g.43058940C>T	gnomAD
CBS	P35520	p.Gly418Val	rs1460109011	missense variant	-	NC_000021.9:g.43058939C>A	gnomAD
CBS	P35520	p.Ala421Asp	rs886039021	missense variant	-	NC_000021.9:g.43058930G>T	gnomAD
CBS	P35520	p.Ala421Asp	RCV000248108	missense variant	-	NC_000021.9:g.43058930G>T	ClinVar
CBS	P35520	p.Pro422Leu	RCV000000152	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058927G>A	ClinVar
CBS	P35520	p.Pro422Leu	rs28934892	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt,dbSNP
CBS	P35520	p.Pro422Leu	VAR_021802	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt
CBS	P35520	p.Pro422Leu	rs28934892	missense variant	-	NC_000021.9:g.43058927G>A	gnomAD
CBS	P35520	p.Val425Met	RCV000592999	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Val425Met	rs138211175	missense variant	-	NC_000021.9:g.43058919C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val425Leu	rs138211175	missense variant	-	NC_000021.9:g.43058919C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val425Met	RCV000554628	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Val425Met	RCV000620815	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Leu426Phe	rs1311066540	missense variant	-	NC_000021.9:g.43058916G>A	gnomAD
CBS	P35520	p.Pro427Leu	rs863223434	missense variant	-	NC_000021.9:g.43058912G>A	gnomAD
CBS	P35520	p.Pro427Leu	RCV000584030	missense variant	-	NC_000021.9:g.43058912G>A	ClinVar
CBS	P35520	p.Pro427Ser	rs1450044796	missense variant	-	NC_000021.9:g.43058913G>A	gnomAD
CBS	P35520	p.Thr428Asn	rs776175674	missense variant	-	NC_000021.9:g.43058909G>T	ExAC,gnomAD
CBS	P35520	p.Ile429Val	rs1405061619	missense variant	-	NC_000021.9:g.43058907T>C	gnomAD
CBS	P35520	p.Thr430Ala	rs947698557	missense variant	-	NC_000021.9:g.43058904T>C	TOPMed
CBS	P35520	p.Cys431Tyr	rs1381340460	missense variant	-	NC_000021.9:g.43058900C>T	gnomAD
CBS	P35520	p.Gly432Arg	rs1180854779	missense variant	-	NC_000021.9:g.43058898C>T	gnomAD
CBS	P35520	p.His433Pro	rs1237063529	missense variant	-	NC_000021.9:g.43058894T>G	gnomAD
CBS	P35520	p.Thr434Asn	RCV000667146	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058891G>T	ClinVar
CBS	P35520	p.Thr434Asn	rs1555872506	missense variant	-	NC_000021.9:g.43058891G>T	-
CBS	P35520	p.Thr434Asn	rs1555872506	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt,dbSNP
CBS	P35520	p.Thr434Asn	VAR_008088	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt
CBS	P35520	p.Ile435Asn	rs1282119406	missense variant	-	NC_000021.9:g.43058888A>T	gnomAD
CBS	P35520	p.Ile435Thr	RCV000666335	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058888A>G	ClinVar
CBS	P35520	p.Ile435Thr	rs1282119406	missense variant	-	NC_000021.9:g.43058888A>G	gnomAD
CBS	P35520	p.Ile435Thr	VAR_008089	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu436Lys	rs1354271840	missense variant	-	NC_000021.9:g.43058886C>T	gnomAD
CBS	P35520	p.Leu438Phe	rs1243421704	missense variant	-	NC_000021.9:g.43058880G>A	gnomAD
CBS	P35520	p.Arg439Gln	rs756467921	missense variant	-	NC_000021.9:g.43058876C>T	ExAC,gnomAD
CBS	P35520	p.Arg439Gln	RCV000169494	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058876C>T	ClinVar
CBS	P35520	p.Arg439Trp	rs780508029	missense variant	-	NC_000021.9:g.43058877G>A	ExAC,gnomAD
CBS	P35520	p.Glu440Gln	rs1449634173	missense variant	-	NC_000021.9:g.43058874C>G	gnomAD
CBS	P35520	p.Lys441Ter	rs1057516645	stop gained	-	NC_000021.9:g.43058871T>A	-
CBS	P35520	p.Lys441Ter	RCV000412412	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058871T>A	ClinVar
CBS	P35520	p.Gly442Asp	rs1324151005	missense variant	-	NC_000021.9:g.43058867C>T	gnomAD
CBS	P35520	p.Asp444Asn	RCV000174656	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058862C>T	ClinVar
CBS	P35520	p.Asp444Asn	rs28934891	missense variant	-	NC_000021.9:g.43058862C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp444Asn	rs28934891	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt,dbSNP
CBS	P35520	p.Asp444Asn	VAR_002192	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt
CBS	P35520	p.Ala446Thr	rs1413430493	missense variant	-	NC_000021.9:g.43058856C>T	gnomAD
CBS	P35520	p.Ala446Val	rs757347527	missense variant	-	NC_000021.9:g.43058855G>A	ExAC,gnomAD
CBS	P35520	p.Ala446Ser	VAR_066103	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro447Thr	rs764165836	missense variant	-	NC_000021.9:g.43058853G>T	ExAC,gnomAD
CBS	P35520	p.Val448Leu	rs865989946	missense variant	-	NC_000021.9:g.43058850C>A	TOPMed,gnomAD
CBS	P35520	p.Val448Met	rs865989946	missense variant	-	NC_000021.9:g.43058850C>T	TOPMed,gnomAD
CBS	P35520	p.Val448Met	RCV000490064	missense variant	-	NC_000021.9:g.43058850C>T	ClinVar
CBS	P35520	p.Val449Gly	VAR_074593	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu451Asp	RCV000764259	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058839C>G	ClinVar
CBS	P35520	p.Glu451Asp	RCV000198168	missense variant	-	NC_000021.9:g.43058839C>G	ClinVar
CBS	P35520	p.Glu451Gly	rs1220059415	missense variant	-	NC_000021.9:g.43058840T>C	gnomAD
CBS	P35520	p.Glu451Asp	rs367962613	missense variant	-	NC_000021.9:g.43058839C>G	ESP,ExAC,gnomAD
CBS	P35520	p.Ala452Val	rs201585750	missense variant	-	NC_000021.9:g.43058837G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala452Glu	rs201585750	missense variant	-	NC_000021.9:g.43058837G>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly453Glu	RCV000248732	missense variant	-	NC_000021.9:g.43058834C>T	ClinVar
CBS	P35520	p.Gly453Arg	rs886057099	missense variant	-	NC_000021.9:g.43058835C>T	gnomAD
CBS	P35520	p.Gly453Glu	rs886039146	missense variant	-	NC_000021.9:g.43058834C>T	gnomAD
CBS	P35520	p.Gly453Trp	rs886057099	missense variant	-	NC_000021.9:g.43058835C>A	gnomAD
CBS	P35520	p.Gly453Trp	RCV000339973	missense variant	Homocystinuria	NC_000021.9:g.43058835C>A	ClinVar
CBS	P35520	p.Val454Ala	rs1398459455	missense variant	-	NC_000021.9:g.43058251A>G	gnomAD
CBS	P35520	p.Val454Glu	VAR_002193	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile455Asn	rs751797189	missense variant	-	NC_000021.9:g.43058248A>T	ExAC,gnomAD
CBS	P35520	p.Leu456Pro	VAR_021803	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met458Thr	rs758500477	missense variant	-	NC_000021.9:g.43058239A>G	ExAC,gnomAD
CBS	P35520	p.Thr460Met	rs752596508	missense variant	-	NC_000021.9:g.43058233G>A	ExAC,gnomAD
CBS	P35520	p.Leu461Phe	rs902200637	missense variant	-	NC_000021.9:g.43058231G>A	TOPMed
CBS	P35520	p.Met464Thr	rs141428279	missense variant	-	NC_000021.9:g.43058221A>G	ESP,ExAC
CBS	P35520	p.Ser466Leu	rs121964971	missense variant	-	NC_000021.9:g.43058215G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser466Leu	rs121964971	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt,dbSNP
CBS	P35520	p.Ser466Leu	VAR_008091	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt
CBS	P35520	p.Ser466Leu	RCV000000153	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058215G>A	ClinVar
CBS	P35520	p.Ser467Phe	rs1237233267	missense variant	-	NC_000021.9:g.43058212G>A	gnomAD
CBS	P35520	p.Gly471Arg	rs201098477	missense variant	-	NC_000021.9:g.43058201C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly471Arg	RCV000200328	missense variant	-	NC_000021.9:g.43058201C>T	ClinVar
CBS	P35520	p.Gly471Arg	RCV000764258	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058201C>T	ClinVar
CBS	P35520	p.Gln474Ter	rs562625029	stop gained	-	NC_000021.9:g.43058192G>A	1000Genomes
CBS	P35520	p.Pro475Leu	rs367711379	missense variant	-	NC_000021.9:g.43058188G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp477Glu	RCV000617298	missense variant	-	NC_000021.9:g.43058181G>T	ClinVar
CBS	P35520	p.Asp477Glu	rs1555871920	missense variant	-	NC_000021.9:g.43058181G>T	-
CBS	P35520	p.Val479Ala	rs886038933	missense variant	-	NC_000021.9:g.43058176A>G	gnomAD
CBS	P35520	p.Val479Ala	RCV000253951	missense variant	-	NC_000021.9:g.43058176A>G	ClinVar
CBS	P35520	p.Ile483Thr	rs746393838	missense variant	-	NC_000021.9:g.43058164A>G	ExAC,gnomAD
CBS	P35520	p.Tyr484Phe	RCV000557667	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>A	ClinVar
CBS	P35520	p.Tyr484Phe	rs1555871913	missense variant	-	NC_000021.9:g.43058161T>A	-
CBS	P35520	p.Tyr484Cys	rs1555871913	missense variant	-	NC_000021.9:g.43058161T>C	-
CBS	P35520	p.Tyr484Cys	RCV000648119	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>C	ClinVar
CBS	P35520	p.Lys485Glu	rs886057098	missense variant	-	NC_000021.9:g.43058159T>C	-
CBS	P35520	p.Lys485Glu	RCV000403386	missense variant	Homocystinuria	NC_000021.9:g.43058159T>C	ClinVar
CBS	P35520	p.Arg491His	RCV000483442	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
CBS	P35520	p.Arg491His	rs747419767	missense variant	-	NC_000021.9:g.43056883C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg491Cys	rs1339830457	missense variant	-	NC_000021.9:g.43056884G>A	gnomAD
CBS	P35520	p.Arg491His	RCV000249170	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
CBS	P35520	p.Thr493Met	rs996249907	missense variant	-	NC_000021.9:g.43056877G>A	TOPMed,gnomAD
CBS	P35520	p.Thr495Met	RCV000482429	missense variant	-	NC_000021.9:g.43056871G>A	ClinVar
CBS	P35520	p.Thr495Ala	rs1292687681	missense variant	-	NC_000021.9:g.43056872T>C	gnomAD
CBS	P35520	p.Thr495Met	rs772344567	missense variant	-	NC_000021.9:g.43056871G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr495Lys	rs772344567	missense variant	-	NC_000021.9:g.43056871G>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr495Met	RCV000463603	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056871G>A	ClinVar
CBS	P35520	p.Ser500Leu	rs755106884	missense variant	-	NC_000021.9:g.43056856G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser500Leu	rs755106884	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt,dbSNP
CBS	P35520	p.Ser500Leu	VAR_074594	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt
CBS	P35520	p.Ser500Ter	RCV000593857	frameshift	-	NC_000021.9:g.43056857_43056858AG[1]	ClinVar
CBS	P35520	p.Leu503Val	rs1265746216	missense variant	-	NC_000021.9:g.43056848G>C	gnomAD
CBS	P35520	p.Met505Ile	rs200613751	missense variant	-	NC_000021.9:g.43056840C>T	1000Genomes,gnomAD
CBS	P35520	p.Asp506Asn	rs1317348103	missense variant	-	NC_000021.9:g.43056839C>T	gnomAD
CBS	P35520	p.Ala509Val	rs794727161	missense variant	-	NC_000021.9:g.43056829G>A	-
CBS	P35520	p.Ala509Thr	rs1060500680	missense variant	-	NC_000021.9:g.43056830C>T	TOPMed,gnomAD
CBS	P35520	p.Ala509Thr	RCV000467733	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056830C>T	ClinVar
CBS	P35520	p.Ala509Val	RCV000174986	missense variant	-	NC_000021.9:g.43056829G>A	ClinVar
CBS	P35520	p.Val511Met	rs1387121972	missense variant	-	NC_000021.9:g.43056824C>T	gnomAD
CBS	P35520	p.His513Arg	rs1328834710	missense variant	-	NC_000021.9:g.43056817T>C	gnomAD
CBS	P35520	p.His513Gln	rs187828882	missense variant	-	NC_000021.9:g.43056816G>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.His513Gln	RCV000424660	missense variant	-	NC_000021.9:g.43056816G>C	ClinVar
CBS	P35520	p.Glu514Gln	rs145228319	missense variant	-	NC_000021.9:g.43056815C>G	ESP,ExAC,gnomAD
CBS	P35520	p.Glu514Lys	rs145228319	missense variant	-	NC_000021.9:g.43056815C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Gln515Ter	rs1463986810	stop gained	-	NC_000021.9:g.43056812G>A	gnomAD
CBS	P35520	p.Ile516Ter	RCV000669346	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056810del	ClinVar
CBS	P35520	p.Gln517His	rs750311684	missense variant	-	NC_000021.9:g.43056804C>G	ExAC,gnomAD
CBS	P35520	p.Tyr518His	rs1198678305	missense variant	-	NC_000021.9:g.43056803A>G	gnomAD
CBS	P35520	p.Gly522Arg	rs201916339	missense variant	-	NC_000021.9:g.43053972C>T	ExAC,gnomAD
CBS	P35520	p.Lys523Ter	RCV000169113	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053972del	ClinVar
CBS	P35520	p.Ser524Pro	rs747984710	missense variant	-	NC_000021.9:g.43053966A>G	ExAC,gnomAD
CBS	P35520	p.Ser525Asn	rs1359693246	missense variant	-	NC_000021.9:g.43053962C>T	gnomAD
CBS	P35520	p.Gln526Ter	RCV000672976	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053960G>A	ClinVar
CBS	P35520	p.Gln526Ter	rs1555869958	stop gained	-	NC_000021.9:g.43053960G>A	-
CBS	P35520	p.Gln526Lys	VAR_046937	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Arg527Trp	rs1455031864	missense variant	-	NC_000021.9:g.43053957G>A	gnomAD
CBS	P35520	p.Phe531Leu	rs768230991	missense variant	-	NC_000021.9:g.43053943G>T	ExAC,gnomAD
CBS	P35520	p.Gly532Arg	rs748953468	missense variant	-	NC_000021.9:g.43053942C>T	ExAC,gnomAD
CBS	P35520	p.Gly532Arg	RCV000594688	missense variant	-	NC_000021.9:g.43053942C>T	ClinVar
CBS	P35520	p.Gly532Arg	RCV000696029	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053942C>T	ClinVar
CBS	P35520	p.Val533Leu	RCV000703932	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053939C>A	ClinVar
CBS	P35520	p.Val534Ile	rs779569366	missense variant	-	NC_000021.9:g.43053936C>T	ExAC,gnomAD
CBS	P35520	p.Val534Asp	VAR_008093	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr535Ter	RCV000666158	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053933_43053934del	ClinVar
CBS	P35520	p.Ala536Thr	rs747522167	missense variant	-	NC_000021.9:g.43053930C>T	ExAC,gnomAD
CBS	P35520	p.Leu539Ser	RCV000675072	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053920A>G	ClinVar
CBS	P35520	p.Leu539Ser	rs121964968	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt,dbSNP
CBS	P35520	p.Leu539Ser	VAR_002194	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt
CBS	P35520	p.Leu539Ser	rs121964968	missense variant	-	NC_000021.9:g.43053920A>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Leu540Gln	VAR_074595	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Val543Met	rs753183931	missense variant	-	NC_000021.9:g.43053909C>T	ExAC,gnomAD
CBS	P35520	p.Ala545Ser	rs139651937	missense variant	-	NC_000021.9:g.43053903C>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala545Gly	rs754031824	missense variant	-	NC_000021.9:g.43053902G>C	ExAC,gnomAD
CBS	P35520	p.Arg548Trp	rs766444814	missense variant	-	NC_000021.9:g.43053894G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg548Gln	RCV000227198	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053893C>T	ClinVar
CBS	P35520	p.Arg548Gln	rs150828989	missense variant	-	NC_000021.9:g.43053893C>T	UniProt,dbSNP
CBS	P35520	p.Arg548Gln	VAR_046938	missense variant	-	NC_000021.9:g.43053893C>T	UniProt
CBS	P35520	p.Arg548Gln	rs150828989	missense variant	-	NC_000021.9:g.43053893C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ter552Cys	rs1365095601	stop lost	-	NC_000021.9:g.43053880T>G	gnomAD
CBS	P35520	p.Ter552Gly	rs767500762	stop lost	-	NC_000021.9:g.43053882A>C	ExAC,gnomAD
CBS	P35520	p.Ter552Cys	RCV000674493	stop lost	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053880T>G	ClinVar
CBS	P35520	p.Met1Thr	RCV000176975	missense variant	-	NC_000021.9:g.43072192A>G	ClinVar
CBS	P35520	p.Pro2Leu	RCV000200313	missense variant	-	NC_000021.9:g.43072189G>A	ClinVar
CBS	P35520	p.Pro2Leu	rs546530618	missense variant	-	NC_000021.9:g.43072189G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu4Asp	rs748832676	missense variant	-	NC_000021.9:g.43072182C>G	ExAC
CBS	P35520	p.Pro6Ser	rs528184368	missense variant	-	NC_000021.9:g.43072178G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Gln7Ter	RCV000409151	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072180dup	ClinVar
CBS	P35520	p.Gln7Ter	RCV000478091	frameshift	-	NC_000021.9:g.43072180dup	ClinVar
CBS	P35520	p.Ala8Gly	rs919403971	missense variant	-	NC_000021.9:g.43072171G>C	TOPMed,gnomAD
CBS	P35520	p.Glu9Gln	rs758092887	missense variant	-	NC_000021.9:g.43072169C>G	ExAC,gnomAD
CBS	P35520	p.Glu9Lys	rs758092887	missense variant	-	NC_000021.9:g.43072169C>T	ExAC,gnomAD
CBS	P35520	p.Glu9Ter	RCV000409242	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072161_43072179del	ClinVar
CBS	P35520	p.Val10Ter	RCV000723446	frameshift	-	NC_000021.9:g.43072166del	ClinVar
CBS	P35520	p.Val10Ter	RCV000279971	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072166del	ClinVar
CBS	P35520	p.Val10Met	rs1479837105	missense variant	-	NC_000021.9:g.43072166C>T	gnomAD
CBS	P35520	p.Gly11Arg	rs1205411379	missense variant	-	NC_000021.9:g.43072163C>T	gnomAD
CBS	P35520	p.Pro12Ser	RCV000704996	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072160G>A	ClinVar
CBS	P35520	p.Pro12Ser	rs558259739	missense variant	-	NC_000021.9:g.43072160G>A	ExAC,gnomAD
CBS	P35520	p.Gly14Val	rs1371674515	missense variant	-	NC_000021.9:g.43072153C>A	gnomAD
CBS	P35520	p.Cys15Phe	rs750850447	missense variant	-	NC_000021.9:g.43072150C>A	ExAC,gnomAD
CBS	P35520	p.His17Leu	rs768172160	missense variant	-	NC_000021.9:g.43072144T>A	ExAC
CBS	P35520	p.Arg18His	rs755850396	missense variant	-	NC_000021.9:g.43072141C>T	gnomAD
CBS	P35520	p.Arg18Ser	rs201827340	missense variant	-	NC_000021.9:g.43072142G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg18Cys	rs201827340	missense variant	-	NC_000021.9:g.43072142G>A	UniProt,dbSNP
CBS	P35520	p.Arg18Cys	VAR_046921	missense variant	-	NC_000021.9:g.43072142G>A	UniProt
CBS	P35520	p.Arg18Cys	rs201827340	missense variant	-	NC_000021.9:g.43072142G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg18Cys	RCV000251012	missense variant	-	NC_000021.9:g.43072142G>A	ClinVar
CBS	P35520	p.Ser19Leu	rs764399291	missense variant	-	NC_000021.9:g.43072138G>A	ExAC,gnomAD
CBS	P35520	p.His22Arg	RCV000197426	missense variant	-	NC_000021.9:g.43072129T>C	ClinVar
CBS	P35520	p.His22Arg	rs763151207	missense variant	-	NC_000021.9:g.43072129T>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.His22Arg	RCV000648122	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072129T>C	ClinVar
CBS	P35520	p.Ser23Thr	rs1378750597	missense variant	-	NC_000021.9:g.43072127A>T	gnomAD
CBS	P35520	p.Ser23Leu	rs775785018	missense variant	-	NC_000021.9:g.43072126G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala24Val	rs759682004	missense variant	-	NC_000021.9:g.43072123G>A	ExAC,gnomAD
CBS	P35520	p.Lys25Asn	rs1484147890	missense variant	-	NC_000021.9:g.43072119C>A	gnomAD
CBS	P35520	p.Gly26Glu	rs746782366	missense variant	-	NC_000021.9:g.43072117C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly26Ala	rs746782366	missense variant	-	NC_000021.9:g.43072117C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser27Asn	rs771748290	missense variant	-	NC_000021.9:g.43072114C>T	ExAC,gnomAD
CBS	P35520	p.Ser27Arg	rs530296903	missense variant	-	NC_000021.9:g.43072113G>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser27Ile	rs771748290	missense variant	-	NC_000021.9:g.43072114C>A	ExAC,gnomAD
CBS	P35520	p.Glu29Lys	rs778653743	missense variant	-	NC_000021.9:g.43072109C>T	ExAC
CBS	P35520	p.Gly31Glu	rs1226779462	missense variant	-	NC_000021.9:g.43072102C>T	gnomAD
CBS	P35520	p.Ser32Pro	rs753430439	missense variant	-	NC_000021.9:g.43072100A>G	ExAC,gnomAD
CBS	P35520	p.Pro33Ser	rs563211474	missense variant	-	NC_000021.9:g.43072097G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Glu34Gly	rs757899237	missense variant	-	NC_000021.9:g.43072093T>C	ExAC,gnomAD
CBS	P35520	p.Asp35Tyr	rs368471318	missense variant	-	NC_000021.9:g.43072091C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp35Asn	rs368471318	missense variant	-	NC_000021.9:g.43072091C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys36Glu	rs904453895	missense variant	-	NC_000021.9:g.43072088T>C	TOPMed,gnomAD
CBS	P35520	p.Lys36Glu	RCV000617634	missense variant	-	NC_000021.9:g.43072088T>C	ClinVar
CBS	P35520	p.Ala38Pro	rs1064795253	missense variant	-	NC_000021.9:g.43072082C>G	gnomAD
CBS	P35520	p.Ala38Thr	RCV000483422	missense variant	-	NC_000021.9:g.43072082C>T	ClinVar
CBS	P35520	p.Ala38Thr	rs1064795253	missense variant	-	NC_000021.9:g.43072082C>T	gnomAD
CBS	P35520	p.Glu40Asp	rs764487170	missense variant	-	NC_000021.9:g.43072074C>A	ExAC,gnomAD
CBS	P35520	p.Pro41Ser	rs763389870	missense variant	-	NC_000021.9:g.43072073G>A	ExAC,gnomAD
CBS	P35520	p.Pro41Leu	rs1315746924	missense variant	-	NC_000021.9:g.43072072G>A	gnomAD
CBS	P35520	p.Trp43Cys	rs1375321603	missense variant	-	NC_000021.9:g.43072065C>A	gnomAD
CBS	P35520	p.Ile44Met	rs1334019279	missense variant	-	NC_000021.9:g.43072062G>C	gnomAD
CBS	P35520	p.Arg45Gln	RCV000620035	missense variant	-	NC_000021.9:g.43072060C>T	ClinVar
CBS	P35520	p.Arg45Trp	rs201372812	missense variant	-	NC_000021.9:g.43072061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg45Gln	rs759502207	missense variant	-	NC_000021.9:g.43072060C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg45Gln	RCV000229516	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072060C>T	ClinVar
CBS	P35520	p.Arg45Trp	RCV000198945	missense variant	-	NC_000021.9:g.43072061G>A	ClinVar
CBS	P35520	p.Pro49Arg	rs148865119	missense variant	-	NC_000021.9:g.43072048G>C	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro49Leu	rs148865119	missense variant	-	NC_000021.9:g.43072048G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro49Leu	RCV000242293	missense variant	-	NC_000021.9:g.43072048G>A	ClinVar
CBS	P35520	p.Arg51Ter	RCV000674825	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072033_43072045del	ClinVar
CBS	P35520	p.Arg51Lys	RCV000486724	missense variant	-	NC_000021.9:g.43072042C>T	ClinVar
CBS	P35520	p.Arg51Ser	rs748795053	missense variant	-	NC_000021.9:g.43072041C>A	ExAC,gnomAD
CBS	P35520	p.Arg51Lys	rs370983323	missense variant	-	NC_000021.9:g.43072042C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Cys52Tyr	rs779777933	missense variant	-	NC_000021.9:g.43072039C>T	ExAC,gnomAD
CBS	P35520	p.Cys52Tyr	RCV000648117	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072039C>T	ClinVar
CBS	P35520	p.Trp54Ter	rs199948079	stop gained	-	NC_000021.9:g.43072032C>T	-
CBS	P35520	p.Trp54Ter	RCV000409663	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43072032C>T	ClinVar
CBS	P35520	p.Gln55Lys	rs1292304665	missense variant	-	NC_000021.9:g.43072031G>T	gnomAD
CBS	P35520	p.Leu56Pro	rs1180472259	missense variant	-	NC_000021.9:g.43072027A>G	gnomAD
CBS	P35520	p.Gly57Ser	rs1480938544	missense variant	-	NC_000021.9:g.43072025C>T	gnomAD
CBS	P35520	p.Arg58Trp	rs555959266	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt,dbSNP
CBS	P35520	p.Arg58Trp	VAR_008050	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43072022G>A	UniProt
CBS	P35520	p.Arg58Trp	rs555959266	missense variant	-	NC_000021.9:g.43072022G>A	ExAC,gnomAD
CBS	P35520	p.Arg58Gln	rs758648251	missense variant	-	NC_000021.9:g.43072021C>T	ExAC,gnomAD
CBS	P35520	p.Pro59Ser	rs376496085	missense variant	-	NC_000021.9:g.43072019G>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala60Val	rs765352771	missense variant	-	NC_000021.9:g.43072015G>A	ExAC,gnomAD
CBS	P35520	p.Ser61Pro	rs1392721766	missense variant	-	NC_000021.9:g.43072013A>G	gnomAD
CBS	P35520	p.Glu62Lys	rs199507134	missense variant	-	NC_000021.9:g.43072010C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.His65Arg	rs1191141364	missense variant	-	NC_000021.9:g.43072000T>C	gnomAD
CBS	P35520	p.His67Tyr	rs1248573959	missense variant	-	NC_000021.9:g.43071995G>A	gnomAD
CBS	P35520	p.Thr68Ile	rs760770298	missense variant	-	NC_000021.9:g.43071991G>A	ExAC,gnomAD
CBS	P35520	p.Ala69Pro	rs17849313	missense variant	-	NC_000021.9:g.43071989C>G	-
CBS	P35520	p.Ala69Pro	rs17849313	missense variant	-	NC_000021.9:g.43071989C>G	UniProt,dbSNP
CBS	P35520	p.Ala69Pro	VAR_046922	missense variant	-	NC_000021.9:g.43071989C>G	UniProt
CBS	P35520	p.Pro70Arg	rs2229413	missense variant	-	NC_000021.9:g.43071985G>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro70Leu	rs2229413	missense variant	-	NC_000021.9:g.43071985G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro70Leu	RCV000199276	missense variant	-	NC_000021.9:g.43071985G>A	ClinVar
CBS	P35520	p.Ala71Glu	rs761878715	missense variant	-	NC_000021.9:g.43068613G>T	ExAC,gnomAD
CBS	P35520	p.Ala71Val	rs761878715	missense variant	-	NC_000021.9:g.43068613G>A	ExAC,gnomAD
CBS	P35520	p.Lys72Ile	rs192232907	missense variant	-	NC_000021.9:g.43068610T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys72Ile	RCV000547149	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068610T>A	ClinVar
CBS	P35520	p.Ser73Cys	rs763892068	missense variant	-	NC_000021.9:g.43068607G>C	ExAC,gnomAD
CBS	P35520	p.Pro74Leu	RCV000621470	missense variant	-	NC_000021.9:g.43068604G>A	ClinVar
CBS	P35520	p.Pro74Leu	rs762862715	missense variant	-	NC_000021.9:g.43068604G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro74Ser	rs1170538361	missense variant	-	NC_000021.9:g.43068605G>A	gnomAD
CBS	P35520	p.Lys75Asn	rs552179536	missense variant	-	NC_000021.9:g.43068600T>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Pro78Arg	rs786204608	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt,dbSNP
CBS	P35520	p.Pro78Arg	VAR_002171	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068592G>C	UniProt
CBS	P35520	p.Pro78Arg	rs786204608	missense variant	-	NC_000021.9:g.43068592G>C	gnomAD
CBS	P35520	p.Pro78Arg	RCV000169367	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068592G>C	ClinVar
CBS	P35520	p.Ile80Val	rs769608918	missense variant	-	NC_000021.9:g.43068587T>C	ExAC,gnomAD
CBS	P35520	p.Leu81Val	rs1480481730	missense variant	-	NC_000021.9:g.43068584G>C	TOPMed
CBS	P35520	p.Lys82Asn	rs71322504	missense variant	-	NC_000021.9:g.43068579C>A	ExAC,gnomAD
CBS	P35520	p.Lys82Asn	rs71322504	missense variant	-	NC_000021.9:g.43068579C>G	ExAC,gnomAD
CBS	P35520	p.Gly85Arg	RCV000195506	missense variant	-	NC_000021.9:g.43068572C>T	ClinVar
CBS	P35520	p.Gly85Arg	rs863223435	missense variant	-	NC_000021.9:g.43068572C>T	gnomAD
CBS	P35520	p.Asp86Asn	rs776259258	missense variant	-	NC_000021.9:g.43068569C>T	ExAC,gnomAD
CBS	P35520	p.Thr87Ile	rs1239864776	missense variant	-	NC_000021.9:g.43068565G>A	gnomAD
CBS	P35520	p.Thr87Asn	VAR_074590	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro88Ser	VAR_002172	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met89Lys	rs772450760	missense variant	-	NC_000021.9:g.43068559A>T	ExAC,gnomAD
CBS	P35520	p.Met89Ile	rs748617584	missense variant	-	NC_000021.9:g.43068558C>A	ExAC,gnomAD
CBS	P35520	p.Lys94Asn	rs779297627	missense variant	-	NC_000021.9:g.43068543C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile95Thr	rs1347662650	missense variant	-	NC_000021.9:g.43068541A>G	TOPMed,gnomAD
CBS	P35520	p.Ile95Asn	rs1347662650	missense variant	-	NC_000021.9:g.43068541A>T	TOPMed,gnomAD
CBS	P35520	p.Ile95Thr	RCV000557426	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068541A>G	ClinVar
CBS	P35520	p.Phe99Tyr	rs112029370	missense variant	-	NC_000021.9:g.43068529A>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Tyr	RCV000459701	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068529A>T	ClinVar
CBS	P35520	p.Phe99Tyr	RCV000497848	missense variant	-	NC_000021.9:g.43068529A>T	ClinVar
CBS	P35520	p.Phe99Leu	rs749697783	missense variant	-	NC_000021.9:g.43068528G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Ser	rs112029370	missense variant	-	NC_000021.9:g.43068529A>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Phe99Leu	RCV000229409	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068528G>C	ClinVar
CBS	P35520	p.Gly100Ser	rs1310019343	missense variant	-	NC_000021.9:g.43068527C>T	TOPMed,gnomAD
CBS	P35520	p.Leu101Val	RCV000310277	missense variant	Homocystinuria	NC_000021.9:g.43068524G>C	ClinVar
CBS	P35520	p.Leu101Val	rs369644531	missense variant	-	NC_000021.9:g.43068524G>C	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Leu101Pro	RCV000169617	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068523A>G	ClinVar
CBS	P35520	p.Leu101Pro	rs786204757	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt,dbSNP
CBS	P35520	p.Leu101Pro	VAR_021791	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068523A>G	UniProt
CBS	P35520	p.Leu101Pro	rs786204757	missense variant	-	NC_000021.9:g.43068523A>G	TOPMed
CBS	P35520	p.Lys102Asn	RCV000169368	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43068519C>G	ClinVar
CBS	P35520	p.Lys102Gln	RCV000394063	missense variant	Homocystinuria	NC_000021.9:g.43068521T>G	ClinVar
CBS	P35520	p.Lys102Gln	rs34040148	missense variant	-	NC_000021.9:g.43068521T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys102Asn	rs786204609	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt,dbSNP
CBS	P35520	p.Lys102Asn	VAR_002173	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43068519C>G	UniProt
CBS	P35520	p.Lys102Asn	rs786204609	missense variant	-	NC_000021.9:g.43068519C>G	gnomAD
CBS	P35520	p.Cys109Arg	rs778220779	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt,dbSNP
CBS	P35520	p.Cys109Arg	VAR_021792	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066369A>G	UniProt
CBS	P35520	p.Cys109Arg	rs778220779	missense variant	-	NC_000021.9:g.43066369A>G	TOPMed,gnomAD
CBS	P35520	p.Cys109Arg	RCV000535881	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066369A>G	ClinVar
CBS	P35520	p.Ala114Thr	rs377708532	missense variant	-	NC_000021.9:g.43066354C>T	ExAC,gnomAD
CBS	P35520	p.Ala114Thr	RCV000493781	missense variant	-	NC_000021.9:g.43066354C>T	ClinVar
CBS	P35520	p.Ala114Gly	rs121964964	missense variant	-	NC_000021.9:g.43066353G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala114Val	rs121964964	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt,dbSNP
CBS	P35520	p.Ala114Val	VAR_002174	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066353G>A	UniProt
CBS	P35520	p.Ala114Val	rs121964964	missense variant	-	NC_000021.9:g.43066353G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala114Ser	rs377708532	missense variant	-	NC_000021.9:g.43066354C>A	ExAC,gnomAD
CBS	P35520	p.Ala114Val	RCV000490533	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066353G>A	ClinVar
CBS	P35520	p.Gly116Arg	rs760214620	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt,dbSNP
CBS	P35520	p.Gly116Arg	VAR_008053	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066348C>T	UniProt
CBS	P35520	p.Gly116Arg	rs760214620	missense variant	-	NC_000021.9:g.43066348C>T	ExAC,gnomAD
CBS	P35520	p.Gly116Arg	RCV000169116	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066348C>T	ClinVar
CBS	P35520	p.Ser117Ile	rs772768738	missense variant	-	NC_000021.9:g.43066344C>A	ExAC,gnomAD
CBS	P35520	p.Val118Met	rs763385546	missense variant	-	NC_000021.9:g.43066342C>T	ExAC,gnomAD
CBS	P35520	p.Val118Met	RCV000368495	missense variant	Homocystinuria	NC_000021.9:g.43066342C>T	ClinVar
CBS	P35520	p.Asp120Asn	rs1251292223	missense variant	-	NC_000021.9:g.43066336C>T	gnomAD
CBS	P35520	p.Arg121Cys	rs775992753	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt,dbSNP
CBS	P35520	p.Arg121Cys	VAR_008054	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066333G>A	UniProt
CBS	P35520	p.Arg121Cys	rs775992753	missense variant	-	NC_000021.9:g.43066333G>A	ExAC,gnomAD
CBS	P35520	p.Arg121Leu	rs770095972	missense variant	-	NC_000021.9:g.43066332C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg121His	rs770095972	missense variant	-	NC_000021.9:g.43066332C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg121His	RCV000169322	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>T	ClinVar
CBS	P35520	p.Arg121Cys	RCV000196859	missense variant	-	NC_000021.9:g.43066333G>A	ClinVar
CBS	P35520	p.Arg121His	rs770095972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt,dbSNP
CBS	P35520	p.Arg121His	VAR_008055	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>T	UniProt
CBS	P35520	p.Arg121Leu	rs770095972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt,dbSNP
CBS	P35520	p.Arg121Leu	VAR_008056	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066332C>A	UniProt
CBS	P35520	p.Arg121Leu	RCV000190373	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066332C>A	ClinVar
CBS	P35520	p.Ser123Arg	rs1555875387	missense variant	-	NC_000021.9:g.43066325G>T	-
CBS	P35520	p.Ser123Arg	RCV000550221	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066325G>T	ClinVar
CBS	P35520	p.Leu124Arg	rs746251495	missense variant	-	NC_000021.9:g.43066323A>C	ExAC,gnomAD
CBS	P35520	p.Arg125Trp	RCV000667483	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066321G>A	ClinVar
CBS	P35520	p.Arg125Gln	rs781444670	missense variant	-	NC_000021.9:g.43066320C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg125Gln	rs781444670	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt,dbSNP
CBS	P35520	p.Arg125Gln	VAR_002175	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066320C>T	UniProt
CBS	P35520	p.Arg125Trp	rs886057100	missense variant	-	NC_000021.9:g.43066321G>A	gnomAD
CBS	P35520	p.Arg125Gln	RCV000178709	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320C>T	ClinVar
CBS	P35520	p.Arg125Pro	VAR_046923	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met126Ter	RCV000669819	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066320_43066323dup	ClinVar
CBS	P35520	p.Met126Val	VAR_008058	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile127Thr	rs771108045	missense variant	-	NC_000021.9:g.43066314A>G	ExAC,gnomAD
CBS	P35520	p.Ile127Val	rs892948151	missense variant	-	NC_000021.9:g.43066315T>C	TOPMed,gnomAD
CBS	P35520	p.Glu128Lys	rs1308193541	missense variant	-	NC_000021.9:g.43066312C>T	gnomAD
CBS	P35520	p.Glu128Asp	rs374593242	missense variant	-	NC_000021.9:g.43066310C>G	ExAC,gnomAD
CBS	P35520	p.Asp129Val	rs1373078731	missense variant	-	NC_000021.9:g.43066308T>A	gnomAD
CBS	P35520	p.Ala130Val	rs1301672360	missense variant	-	NC_000021.9:g.43066305G>A	gnomAD
CBS	P35520	p.Ala130Val	RCV000622233	missense variant	-	NC_000021.9:g.43066305G>A	ClinVar
CBS	P35520	p.Glu131Asp	rs1555875351	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt,dbSNP
CBS	P35520	p.Glu131Asp	VAR_002176	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066301C>G	UniProt
CBS	P35520	p.Glu131Asp	rs1555875351	missense variant	-	NC_000021.9:g.43066301C>G	-
CBS	P35520	p.Glu131Lys	rs1360154930	missense variant	-	NC_000021.9:g.43066303C>T	gnomAD
CBS	P35520	p.Glu131Asp	RCV000534364	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066301C>G	ClinVar
CBS	P35520	p.Arg132His	RCV000462847	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066299C>T	ClinVar
CBS	P35520	p.Arg132His	rs779011920	missense variant	-	NC_000021.9:g.43066299C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	RCV000620847	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Cys	RCV000726351	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Ser	rs140002610	missense variant	-	NC_000021.9:g.43066300G>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	rs140002610	missense variant	-	NC_000021.9:g.43066300G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg132Cys	RCV000460928	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Cys	RCV000195820	missense variant	-	NC_000021.9:g.43066300G>A	ClinVar
CBS	P35520	p.Arg132Ser	RCV000247887	missense variant	-	NC_000021.9:g.43066300G>T	ClinVar
CBS	P35520	p.Asp133Asn	RCV000198043	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
CBS	P35520	p.Asp133Asn	RCV000243532	missense variant	-	NC_000021.9:g.43066297C>T	ClinVar
CBS	P35520	p.Asp133Asn	rs539326697	missense variant	-	NC_000021.9:g.43066297C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Ala	rs766958673	missense variant	-	NC_000021.9:g.43066293C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	RCV000469139	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>T	ClinVar
CBS	P35520	p.Gly134Arg	RCV000648115	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294C>G	ClinVar
CBS	P35520	p.Gly134Arg	RCV000196511	missense variant	-	NC_000021.9:g.43066294C>T	ClinVar
CBS	P35520	p.Gly134Ala	RCV000198867	missense variant	-	NC_000021.9:g.43066293C>G	ClinVar
CBS	P35520	p.Gly134Glu	rs766958673	missense variant	-	NC_000021.9:g.43066293C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	rs147474549	missense variant	-	NC_000021.9:g.43066294C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly134Arg	rs147474549	missense variant	-	NC_000021.9:g.43066294C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr135Ter	RCV000411736	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066294del	ClinVar
CBS	P35520	p.Thr135Ter	RCV000674577	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290_43066291delinsC	ClinVar
CBS	P35520	p.Thr135Met	RCV000549296	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066290G>A	ClinVar
CBS	P35520	p.Thr135Met	rs144832032	missense variant	-	NC_000021.9:g.43066290G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Leu136Pro	rs775937459	missense variant	-	NC_000021.9:g.43066287A>G	ExAC,gnomAD
CBS	P35520	p.Pro138Ala	rs765702034	missense variant	-	NC_000021.9:g.43066282G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro138Ser	rs765702034	missense variant	-	NC_000021.9:g.43066282G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly139Arg	RCV000000143	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066279C>T	ClinVar
CBS	P35520	p.Gly139Arg	rs121964965	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt,dbSNP
CBS	P35520	p.Gly139Arg	VAR_008060	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066279C>T	UniProt
CBS	P35520	p.Gly139Arg	rs121964965	missense variant	-	NC_000021.9:g.43066279C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr141Met	rs771178320	missense variant	-	NC_000021.9:g.43066272G>A	ExAC,gnomAD
CBS	P35520	p.Ile143Thr	rs772225410	missense variant	-	NC_000021.9:g.43066266A>G	ExAC,gnomAD
CBS	P35520	p.Ile143Met	rs370167302	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt,dbSNP
CBS	P35520	p.Ile143Met	VAR_021793	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066265G>C	UniProt
CBS	P35520	p.Ile143Met	rs370167302	missense variant	-	NC_000021.9:g.43066265G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Lys	rs121964966	missense variant	-	NC_000021.9:g.43066264C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Gln	rs121964966	missense variant	-	NC_000021.9:g.43066264C>G	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu144Lys	rs121964966	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt,dbSNP
CBS	P35520	p.Glu144Lys	VAR_002177	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066264C>T	UniProt
CBS	P35520	p.Glu144Gln	RCV000538588	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>G	ClinVar
CBS	P35520	p.Glu144Lys	RCV000169074	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066264C>T	ClinVar
CBS	P35520	p.Pro145Leu	rs121964963	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt,dbSNP
CBS	P35520	p.Pro145Leu	VAR_002178	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066260G>A	UniProt
CBS	P35520	p.Pro145Leu	rs121964963	missense variant	-	NC_000021.9:g.43066260G>A	gnomAD
CBS	P35520	p.Pro145Leu	RCV000000139	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43066260G>A	ClinVar
CBS	P35520	p.Thr146Ile	rs1458998509	missense variant	-	NC_000021.9:g.43066257G>A	gnomAD
CBS	P35520	p.Gly148Arg	RCV000411624	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43066252C>T	ClinVar
CBS	P35520	p.Gly148Arg	rs755952006	missense variant	-	NC_000021.9:g.43066252C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151Trp	rs373782713	missense variant	-	NC_000021.9:g.43066243C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151Arg	rs373782713	missense variant	-	NC_000021.9:g.43066243C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly151Arg	rs373782713	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt,dbSNP
CBS	P35520	p.Gly151Arg	VAR_008062	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43066243C>T	UniProt
CBS	P35520	p.Gly151_Ala159del	VAR_008063	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile152Met	VAR_008064	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly153Arg	rs745704046	missense variant	-	NC_000021.9:g.43065690C>T	ExAC,gnomAD
CBS	P35520	p.Leu154Gln	VAR_046924	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala155Thr	rs1429138569	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt,dbSNP
CBS	P35520	p.Ala155Thr	VAR_008065	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065684C>T	UniProt
CBS	P35520	p.Ala155Thr	rs1429138569	missense variant	-	NC_000021.9:g.43065684C>T	gnomAD
CBS	P35520	p.Ala155Val	VAR_046925	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Leu156Pro	rs780799772	missense variant	-	NC_000021.9:g.43065680A>G	ExAC,gnomAD
CBS	P35520	p.Leu156Ter	RCV000412346	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065680del	ClinVar
CBS	P35520	p.Ala157Thr	rs199817801	missense variant	-	NC_000021.9:g.43065678C>T	1000Genomes,gnomAD
CBS	P35520	p.Ala157Thr	RCV000527354	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065678C>T	ClinVar
CBS	P35520	p.Ala157Thr	RCV000242064	missense variant	-	NC_000021.9:g.43065678C>T	ClinVar
CBS	P35520	p.Ala158Glu	rs1376851289	missense variant	-	NC_000021.9:g.43065674G>T	gnomAD
CBS	P35520	p.Ala158Val	rs1376851289	missense variant	-	NC_000021.9:g.43065674G>A	gnomAD
CBS	P35520	p.Ala159Thr	rs1452995855	missense variant	-	NC_000021.9:g.43065672C>T	gnomAD
CBS	P35520	p.Gly162Ser	rs751064748	missense variant	-	NC_000021.9:g.43065663C>T	ExAC
CBS	P35520	p.Arg164His	rs757935417	missense variant	-	NC_000021.9:g.43065656C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg164Cys	rs1216829353	missense variant	-	NC_000021.9:g.43065657G>A	gnomAD
CBS	P35520	p.Cys165Gly	RCV000704014	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065654A>C	ClinVar
CBS	P35520	p.Cys165Ser	rs1234354755	missense variant	-	NC_000021.9:g.43065654A>T	gnomAD
CBS	P35520	p.Cys165Tyr	RCV000587735	missense variant	Homocystinuria	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Cys165Tyr	rs1347651454	missense variant	-	NC_000021.9:g.43065653C>T	gnomAD
CBS	P35520	p.Cys165Tyr	RCV000619758	missense variant	-	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Cys165Tyr	RCV000801652	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065653C>T	ClinVar
CBS	P35520	p.Ile167Met	rs754246295	missense variant	-	NC_000021.9:g.43065646G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Leu	rs121964970	missense variant	-	NC_000021.9:g.43065645C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	rs121964970	missense variant	-	NC_000021.9:g.43065645C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val168Met	RCV000250042	missense variant	-	NC_000021.9:g.43065645C>T	ClinVar
CBS	P35520	p.Val168Met	rs121964970	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt,dbSNP
CBS	P35520	p.Val168Met	VAR_002180	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065645C>T	UniProt
CBS	P35520	p.Val168Met	RCV000000150	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43065645C>T	ClinVar
CBS	P35520	p.Val168Ala	VAR_046926	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met169Leu	rs1371228792	missense variant	-	NC_000021.9:g.43065642T>A	gnomAD
CBS	P35520	p.Met173Ile	rs750879576	missense variant	-	NC_000021.9:g.43065628C>T	ExAC,gnomAD
CBS	P35520	p.Met173del	VAR_066098	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met173Val	VAR_046927	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ser174Asn	rs1172978385	missense variant	-	NC_000021.9:g.43065626C>T	gnomAD
CBS	P35520	p.Glu176Ter	rs762065361	stop gained	-	NC_000021.9:g.43065621C>A	ExAC,gnomAD
CBS	P35520	p.Glu176Lys	rs762065361	missense variant	-	NC_000021.9:g.43065621C>T	ExAC,gnomAD
CBS	P35520	p.Glu176Lys	rs762065361	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt,dbSNP
CBS	P35520	p.Glu176Lys	VAR_008066	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065621C>T	UniProt
CBS	P35520	p.Glu176Lys	RCV000781199	missense variant	Homocystinuria	NC_000021.9:g.43065621C>T	ClinVar
CBS	P35520	p.Lys177Asn	RCV000478922	missense variant	-	NC_000021.9:g.43065616C>G	ClinVar
CBS	P35520	p.Lys177Thr	rs1472673650	missense variant	-	NC_000021.9:g.43065617T>G	gnomAD
CBS	P35520	p.Lys177Asn	rs1064795022	missense variant	-	NC_000021.9:g.43065616C>G	gnomAD
CBS	P35520	p.Val178Leu	rs370843514	missense variant	-	NC_000021.9:g.43065521C>G	ESP,gnomAD
CBS	P35520	p.Val178Met	rs370843514	missense variant	-	NC_000021.9:g.43065521C>T	ESP,gnomAD
CBS	P35520	p.Val178Met	RCV000279590	missense variant	Homocystinuria	NC_000021.9:g.43065521C>T	ClinVar
CBS	P35520	p.Val180Ala	rs1555875010	missense variant	-	NC_000021.9:g.43065514A>G	-
CBS	P35520	p.Val180Ala	rs1555875010	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt,dbSNP
CBS	P35520	p.Val180Ala	VAR_008067	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065514A>G	UniProt
CBS	P35520	p.Val180Ala	RCV000672889	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065514A>G	ClinVar
CBS	P35520	p.Val180Met	rs759402521	missense variant	-	NC_000021.9:g.43065515C>T	ExAC,gnomAD
CBS	P35520	p.Arg182Gln	rs138314784	missense variant	-	NC_000021.9:g.43065508C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Arg182Trp	rs149649130	missense variant	-	NC_000021.9:g.43065509G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala183Thr	rs772705832	missense variant	-	NC_000021.9:g.43065506C>T	ExAC,gnomAD
CBS	P35520	p.Ala183Gly	rs374464810	missense variant	-	NC_000021.9:g.43065505G>C	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala183Val	rs374464810	missense variant	-	NC_000021.9:g.43065505G>A	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala183Val	RCV000541664	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065505G>A	ClinVar
CBS	P35520	p.Ala183Val	RCV000251610	missense variant	-	NC_000021.9:g.43065505G>A	ClinVar
CBS	P35520	p.Glu187Gly	rs1435269264	missense variant	-	NC_000021.9:g.43065493T>C	gnomAD
CBS	P35520	p.Thr191Met	RCV000576767	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Met	RCV000589097	missense variant	Homocystinuria	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Lys	rs121964973	missense variant	-	NC_000021.9:g.43065481G>T	TOPMed,gnomAD
CBS	P35520	p.Thr191Met	RCV000195441	missense variant	-	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Thr191Lys	RCV000497733	missense variant	-	NC_000021.9:g.43065481G>T	ClinVar
CBS	P35520	p.Thr191Met	rs121964973	missense variant	-	NC_000021.9:g.43065481G>A	TOPMed,gnomAD
CBS	P35520	p.Thr191Met	rs121964973	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt,dbSNP
CBS	P35520	p.Thr191Met	VAR_008068	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065481G>A	UniProt
CBS	P35520	p.Thr191Met	RCV000000155	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43065481G>A	ClinVar
CBS	P35520	p.Pro192Leu	rs754553273	missense variant	-	NC_000021.9:g.43065478G>A	ExAC,gnomAD
CBS	P35520	p.Asn194Ser	rs911670352	missense variant	-	NC_000021.9:g.43065472T>C	TOPMed,gnomAD
CBS	P35520	p.Asn194Asp	rs370089875	missense variant	-	NC_000021.9:g.43065473T>C	ESP,ExAC,gnomAD
CBS	P35520	p.Arg196Ser	rs555751528	missense variant	-	NC_000021.9:g.43065465C>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asp198Asn	rs537027536	missense variant	-	NC_000021.9:g.43065461C>T	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asp198Val	VAR_008069	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro200Leu	rs758712880	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt,dbSNP
CBS	P35520	p.Pro200Leu	VAR_066099	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065454G>A	UniProt
CBS	P35520	p.Pro200Leu	rs758712880	missense variant	-	NC_000021.9:g.43065454G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val204Met	rs372679328	missense variant	-	NC_000021.9:g.43065443C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val204Met	RCV000197936	missense variant	-	NC_000021.9:g.43065443C>T	ClinVar
CBS	P35520	p.Gly205Glu	rs1367873681	missense variant	-	NC_000021.9:g.43065439C>T	gnomAD
CBS	P35520	p.Val206Met	RCV000200147	missense variant	-	NC_000021.9:g.43065437C>T	ClinVar
CBS	P35520	p.Val206Ala	rs1369398275	missense variant	-	NC_000021.9:g.43065436A>G	gnomAD
CBS	P35520	p.Val206Met	rs369220569	missense variant	-	NC_000021.9:g.43065437C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val206Met	RCV000648123	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065437C>T	ClinVar
CBS	P35520	p.Ala207Thr	rs1462927996	missense variant	-	NC_000021.9:g.43065434C>T	gnomAD
CBS	P35520	p.Trp208Cys	rs774174074	missense variant	-	NC_000021.9:g.43065429C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Trp208Arg	RCV000457277	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065431A>G	ClinVar
CBS	P35520	p.Trp208Arg	RCV000786286	missense variant	-	NC_000021.9:g.43065431A>G	ClinVar
CBS	P35520	p.Trp208Ter	rs774174074	stop gained	-	NC_000021.9:g.43065429C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Trp208Arg	rs1060500683	missense variant	-	NC_000021.9:g.43065431A>G	TOPMed,gnomAD
CBS	P35520	p.Arg209Gln	rs781759129	missense variant	-	NC_000021.9:g.43065427C>T	ExAC,gnomAD
CBS	P35520	p.Arg209Trp	rs137939628	missense variant	-	NC_000021.9:g.43065428G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys211Arg	rs201118737	missense variant	-	NC_000021.9:g.43065421T>C	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Asn212Lys	rs2298758	missense variant	-	NC_000021.9:g.43065417G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asn212Lys	RCV000196277	missense variant	-	NC_000021.9:g.43065417G>C	ClinVar
CBS	P35520	p.Glu213Lys	rs758703098	missense variant	-	NC_000021.9:g.43065416C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu213Gly	rs1481588195	missense variant	-	NC_000021.9:g.43065415T>C	TOPMed,gnomAD
CBS	P35520	p.Pro215Ser	rs765471315	missense variant	-	NC_000021.9:g.43065410G>A	ExAC,gnomAD
CBS	P35520	p.Pro215Leu	rs1034007575	missense variant	-	NC_000021.9:g.43065409G>A	TOPMed
CBS	P35520	p.Asn216Ser	rs755015303	missense variant	-	NC_000021.9:g.43065406T>C	ExAC,gnomAD
CBS	P35520	p.Ser217Phe	RCV000673555	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065403G>A	ClinVar
CBS	P35520	p.Ser217Phe	rs1555874874	missense variant	-	NC_000021.9:g.43065403G>A	-
CBS	P35520	p.Ile219Thr	rs1264692707	missense variant	-	NC_000021.9:g.43065397A>G	gnomAD
CBS	P35520	p.Gln222Ter	RCV000778918	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065389G>A	ClinVar
CBS	P35520	p.Tyr223Asp	rs1455474151	missense variant	-	NC_000021.9:g.43065272A>C	gnomAD
CBS	P35520	p.Arg224Leu	rs761647392	missense variant	-	NC_000021.9:g.43065268C>A	ExAC,gnomAD
CBS	P35520	p.Arg224Cys	RCV000243693	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Cys	RCV000726462	missense variant	-	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Cys	RCV000556147	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065269G>A	ClinVar
CBS	P35520	p.Arg224Cys	rs139456571	missense variant	-	NC_000021.9:g.43065269G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg224His	rs761647392	missense variant	-	NC_000021.9:g.43065268C>T	ExAC,gnomAD
CBS	P35520	p.Arg224His	rs761647392	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt,dbSNP
CBS	P35520	p.Arg224His	VAR_002181	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065268C>T	UniProt
CBS	P35520	p.Ala226Pro	rs763835246	missense variant	-	NC_000021.9:g.43065263C>G	ExAC,gnomAD
CBS	P35520	p.Ala226Thr	rs763835246	missense variant	-	NC_000021.9:g.43065263C>T	ExAC,gnomAD
CBS	P35520	p.Ala226Thr	RCV000412334	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065263C>T	ClinVar
CBS	P35520	p.Asn228Ser	rs1555874803	missense variant	-	NC_000021.9:g.43065256T>C	-
CBS	P35520	p.Asn228Ser	rs1555874803	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt,dbSNP
CBS	P35520	p.Asn228Ser	VAR_046928	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065256T>C	UniProt
CBS	P35520	p.Asn228Ser	RCV000669206	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065256T>C	ClinVar
CBS	P35520	p.Asn228Lys	rs1464223176	missense variant	-	NC_000021.9:g.43065255G>C	TOPMed,gnomAD
CBS	P35520	p.Asn228Lys	rs1464223176	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt,dbSNP
CBS	P35520	p.Asn228Lys	VAR_021794	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43065255G>C	UniProt
CBS	P35520	p.Pro229Arg	rs775293525	missense variant	-	NC_000021.9:g.43065253G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro229Thr	rs375730175	missense variant	-	NC_000021.9:g.43065254G>T	ESP,ExAC,gnomAD
CBS	P35520	p.Leu230Ter	RCV000198642	frameshift	-	NC_000021.9:g.43065250del	ClinVar
CBS	P35520	p.Leu230Ter	RCV000169175	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065250del	ClinVar
CBS	P35520	p.Leu230Gln	rs1411597530	missense variant	-	NC_000021.9:g.43065250A>T	TOPMed
CBS	P35520	p.Ala231Pro	VAR_046929	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp234Asn	rs773734233	missense variant	-	NC_000021.9:g.43065239C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp234Asn	RCV000199941	missense variant	-	NC_000021.9:g.43065239C>T	ClinVar
CBS	P35520	p.Asp234Asn	RCV000586183	missense variant	Homocystinuria	NC_000021.9:g.43065239C>T	ClinVar
CBS	P35520	p.Asp234del	VAR_046930	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr236Ile	rs981981270	missense variant	-	NC_000021.9:g.43065232G>A	TOPMed
CBS	P35520	p.Thr236Ter	RCV000409103	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065231_43065232delinsCACC	ClinVar
CBS	P35520	p.Ala237Thr	rs1226723382	missense variant	-	NC_000021.9:g.43065230C>T	gnomAD
CBS	P35520	p.Ala237Val	RCV000688536	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43065229G>A	ClinVar
CBS	P35520	p.Asp238Ala	rs1364919198	missense variant	-	NC_000021.9:g.43065226T>G	gnomAD
CBS	P35520	p.Glu239Lys	VAR_002182	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gln242His	rs1388788227	missense variant	-	NC_000021.9:g.43065213C>A	gnomAD
CBS	P35520	p.Gln243His	rs749466749	missense variant	-	NC_000021.9:g.43065210C>G	ExAC,gnomAD
CBS	P35520	p.Gly246Glu	rs1441519122	missense variant	-	NC_000021.9:g.43063991C>T	gnomAD
CBS	P35520	p.Lys247_Gly256del	VAR_046931	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp249Asn	rs767397847	missense variant	-	NC_000021.9:g.43063983C>T	gnomAD
CBS	P35520	p.Met250Ile	RCV000198250	missense variant	-	NC_000021.9:g.43063978C>T	ClinVar
CBS	P35520	p.Met250Leu	rs777884368	missense variant	-	NC_000021.9:g.43063980T>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Met250Ile	rs863223431	missense variant	-	NC_000021.9:g.43063978C>T	gnomAD
CBS	P35520	p.Met250Lys	rs1555874564	missense variant	-	NC_000021.9:g.43063979A>T	-
CBS	P35520	p.Met250Lys	RCV000648121	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063979A>T	ClinVar
CBS	P35520	p.Met250Ile	RCV000800742	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063978C>T	ClinVar
CBS	P35520	p.Met250Ile	rs863223431	missense variant	-	NC_000021.9:g.43063978C>G	gnomAD
CBS	P35520	p.Leu251Pro	rs1176770868	missense variant	-	NC_000021.9:g.43063976A>G	gnomAD
CBS	P35520	p.Leu251Pro	RCV000671309	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063976A>G	ClinVar
CBS	P35520	p.Ser254Pro	rs1470764055	missense variant	-	NC_000021.9:g.43063968A>G	gnomAD
CBS	P35520	p.Val255Gly	rs1409259346	missense variant	-	NC_000021.9:g.43063964A>C	gnomAD
CBS	P35520	p.Gly256Ser	rs1000697114	missense variant	-	NC_000021.9:g.43063962C>T	TOPMed
CBS	P35520	p.Gly256Val	rs1157774154	missense variant	-	NC_000021.9:g.43063961C>A	gnomAD
CBS	P35520	p.Thr257Met	rs758236584	missense variant	-	NC_000021.9:g.43063958G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr257Met	RCV000169294	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063958G>A	ClinVar
CBS	P35520	p.Gly259Ser	RCV000648118	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063953C>T	ClinVar
CBS	P35520	p.Gly259Ser	rs143124288	missense variant	-	NC_000021.9:g.43063953C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Gly259Asp	rs1242898623	missense variant	-	NC_000021.9:g.43063952C>T	gnomAD
CBS	P35520	p.Thr262Met	RCV000200469	missense variant	-	NC_000021.9:g.43063943G>A	ClinVar
CBS	P35520	p.Thr262Met	rs149119723	missense variant	-	NC_000021.9:g.43063943G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr262Arg	VAR_021795	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile264Thr	rs760212248	missense variant	-	NC_000021.9:g.43063937A>G	ExAC,gnomAD
CBS	P35520	p.Ala265Val	rs1351478245	missense variant	-	NC_000021.9:g.43063934G>A	gnomAD
CBS	P35520	p.Arg266Lys	rs121964969	missense variant	-	NC_000021.9:g.43063931C>T	gnomAD
CBS	P35520	p.Arg266Lys	rs121964969	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt,dbSNP
CBS	P35520	p.Arg266Lys	VAR_008074	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063931C>T	UniProt
CBS	P35520	p.Arg266Lys	RCV000469164	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063931C>T	ClinVar
CBS	P35520	p.Arg266Gly	VAR_008073	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys269del	VAR_074591	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu270Lys	rs1337180584	missense variant	-	NC_000021.9:g.43063920C>T	gnomAD
CBS	P35520	p.Glu270del	VAR_008075	inframe_deletion	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Cys272Ter	RCV000673238	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063912A>T	ClinVar
CBS	P35520	p.Cys272Ter	RCV000507871	nonsense	-	NC_000021.9:g.43063912A>T	ClinVar
CBS	P35520	p.Cys272Ter	rs528689432	stop gained	-	NC_000021.9:g.43063912A>T	-
CBS	P35520	p.Pro273Leu	rs1386009525	missense variant	-	NC_000021.9:g.43063910G>A	gnomAD
CBS	P35520	p.Cys275Ter	rs764638041	stop gained	-	NC_000021.9:g.43063903G>T	ExAC,gnomAD
CBS	P35520	p.Cys275Tyr	VAR_021796	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Arg276Lys	rs1400846504	missense variant	-	NC_000021.9:g.43063901C>T	gnomAD
CBS	P35520	p.Ile277Leu	rs756816076	missense variant	-	NC_000021.9:g.43063078T>G	ExAC
CBS	P35520	p.Ile278Thr	RCV000781197	missense variant	Homocystinuria	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000249462	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	rs5742905	missense variant	-	NC_000021.9:g.43063074A>G	1000Genomes,ESP,TOPMed
CBS	P35520	p.Ile278Thr	rs5742905	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt,dbSNP
CBS	P35520	p.Ile278Thr	VAR_002184	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063074A>G	UniProt
CBS	P35520	p.Ile278Thr	RCV000173640	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000507410	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000000142	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000000141	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Thr	RCV000078111	missense variant	-	NC_000021.9:g.43063074A>G	ClinVar
CBS	P35520	p.Ile278Ser	VAR_066100	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly279Ter	RCV000508400	frameshift	-	NC_000021.9:g.43063075_43063076insTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGAT	ClinVar
CBS	P35520	p.Val280Ala	rs1170192852	missense variant	-	NC_000021.9:g.43063068A>G	gnomAD
CBS	P35520	p.Asp281Asn	VAR_066101	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro282ProSerArgTrpGlyPheCysTrpAlaTerAlaLeuLysProArgProLeuGlnIleIleGlyValAspUnk	rs1555874223	stop gained	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	-
CBS	P35520	p.Pro282Ser	RCV000413391	missense variant	-	NC_000021.9:g.43063063G>A	ClinVar
CBS	P35520	p.Pro282ProLysGlyProSerSerGlnSerArgArgSerTerThrArgArgSerArgGlnProThrArgTrpAsnUnk	rs786200967	stop gained	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	-
CBS	P35520	p.Pro282Ser	rs1057518515	missense variant	-	NC_000021.9:g.43063063G>A	-
CBS	P35520	p.Glu283SerArgTrpGlyPheCysTrpAlaTer	RCV000243626	nonsense	-	NC_000021.9:g.43063062_43063063insATCCACCCCAATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATG	ClinVar
CBS	P35520	p.Glu283Lys	rs765811825	missense variant	-	NC_000021.9:g.43063060C>T	ExAC,gnomAD
CBS	P35520	p.Glu283LysGlyProSerSerGlnSerArgArgSerTer	RCV000152935	nonsense	-	NC_000021.9:g.43063063_43063064insTTCCACCTCGTAGGTTGTCTGCTCCGTCTGGTTCAGCTCCTCCGGCTCTGCGAGGATGGACCCTTCGG	ClinVar
CBS	P35520	p.Gly284Arg	rs1480171482	missense variant	-	NC_000021.9:g.43063057C>T	gnomAD
CBS	P35520	p.Ile286Val	RCV000731875	missense variant	-	NC_000021.9:g.43063051T>C	ClinVar
CBS	P35520	p.Ile286Thr	rs1060500681	missense variant	-	NC_000021.9:g.43063050A>G	-
CBS	P35520	p.Ile286Val	rs147040567	missense variant	-	NC_000021.9:g.43063051T>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile286Val	RCV000648120	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063051T>C	ClinVar
CBS	P35520	p.Ile286Thr	RCV000477458	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063050A>G	ClinVar
CBS	P35520	p.Ala288Thr	RCV000671575	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063045C>T	ClinVar
CBS	P35520	p.Ala288Thr	rs141502207	missense variant	-	NC_000021.9:g.43063045C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Ala288Thr	rs141502207	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt,dbSNP
CBS	P35520	p.Ala288Thr	VAR_046933	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063045C>T	UniProt
CBS	P35520	p.Ala288Ser	rs141502207	missense variant	-	NC_000021.9:g.43063045C>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala288Pro	VAR_046932	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro290Gln	rs760912339	missense variant	-	NC_000021.9:g.43063038G>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Pro290Leu	rs760912339	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt,dbSNP
CBS	P35520	p.Pro290Leu	VAR_002185	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063038G>A	UniProt
CBS	P35520	p.Pro290Leu	rs760912339	missense variant	-	NC_000021.9:g.43063038G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu291Asp	rs201155833	missense variant	-	NC_000021.9:g.43063034C>A	1000Genomes,TOPMed
CBS	P35520	p.Glu292Leu	RCV000482632	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	ClinVar
CBS	P35520	p.Glu292Lys	rs761995096	missense variant	-	NC_000021.9:g.43063033C>T	ExAC,gnomAD
CBS	P35520	p.Glu292Leu	rs1064795178	missense variant	-	NC_000021.9:g.43063032_43063033delinsAA	-
CBS	P35520	p.Glu292Ter	rs761995096	stop gained	-	NC_000021.9:g.43063033C>A	ExAC,gnomAD
CBS	P35520	p.Glu292Val	rs774134517	missense variant	-	NC_000021.9:g.43063032T>A	ExAC,gnomAD
CBS	P35520	p.Gln295Glu	rs562885611	missense variant	-	NC_000021.9:g.43063024G>C	1000Genomes,TOPMed
CBS	P35520	p.Thr296Arg	rs562530775	missense variant	-	NC_000021.9:g.43063020G>C	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Thr296Met	RCV000558244	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063020G>A	ClinVar
CBS	P35520	p.Thr296Met	rs562530775	missense variant	-	NC_000021.9:g.43063020G>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Glu297Ter	rs1298089659	stop gained	-	NC_000021.9:g.43063018C>A	gnomAD
CBS	P35520	p.Thr300Ala	rs780856971	missense variant	-	NC_000021.9:g.43063009T>C	ExAC,gnomAD
CBS	P35520	p.Tyr301Ter	rs746575551	stop gained	-	NC_000021.9:g.43063004G>C	ExAC,TOPMed,gnomAD
CBS	P35520	p.Tyr301Ter	RCV000411137	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43063004G>C	ClinVar
CBS	P35520	p.Glu302Lys	rs779270933	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt,dbSNP
CBS	P35520	p.Glu302Lys	VAR_008076	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43063003C>T	UniProt
CBS	P35520	p.Glu302Lys	RCV000723460	missense variant	-	NC_000021.9:g.43063003C>T	ClinVar
CBS	P35520	p.Glu302Lys	rs779270933	missense variant	-	NC_000021.9:g.43063003C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly305Trp	rs1178687976	missense variant	-	NC_000021.9:g.43062994C>A	gnomAD
CBS	P35520	p.Gly305Arg	VAR_008077	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Gly307Ser	RCV000078112	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000618753	missense variant	-	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000173641	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000366433	missense variant	Homocystinuria	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	RCV000000137	missense variant	Homocystinuria, pyridoxine-nonresponsive	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Gly307Ser	rs121964962	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt,dbSNP
CBS	P35520	p.Gly307Ser	VAR_002186	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062988C>T	UniProt
CBS	P35520	p.Gly307Ser	rs121964962	missense variant	-	NC_000021.9:g.43062988C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly307Ser	RCV000000138	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43062988C>T	ClinVar
CBS	P35520	p.Asp309Asn	rs540013184	missense variant	-	NC_000021.9:g.43062982C>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ile311Leu	rs1323813663	missense variant	-	NC_000021.9:g.43062976T>G	gnomAD
CBS	P35520	p.Pro312His	rs761787042	missense variant	-	NC_000021.9:g.43062972G>T	ExAC,gnomAD
CBS	P35520	p.Thr313Met	rs774557878	missense variant	-	NC_000021.9:g.43062969G>A	ExAC,gnomAD
CBS	P35520	p.Val314Met	rs762823766	missense variant	-	NC_000021.9:g.43062967C>T	ExAC,gnomAD
CBS	P35520	p.Val314Ala	rs1438933819	missense variant	-	NC_000021.9:g.43062966A>G	gnomAD
CBS	P35520	p.Arg317Gly	rs775432669	missense variant	-	NC_000021.9:g.43062958T>C	ExAC,gnomAD
CBS	P35520	p.Thr318Met	RCV000755893	missense variant	-	NC_000021.9:g.43062954G>A	ClinVar
CBS	P35520	p.Thr318Met	RCV000468076	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062954G>A	ClinVar
CBS	P35520	p.Thr318Met	rs769541394	missense variant	-	NC_000021.9:g.43062954G>A	ExAC,gnomAD
CBS	P35520	p.Val320Ala	RCV000780081	missense variant	Homocystinuria	NC_000021.9:g.43062391A>G	ClinVar
CBS	P35520	p.Val320Ala	rs781567152	missense variant	-	NC_000021.9:g.43062391A>G	ExAC,gnomAD
CBS	P35520	p.Val320Ala	rs781567152	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt,dbSNP
CBS	P35520	p.Val320Ala	VAR_008078	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062391A>G	UniProt
CBS	P35520	p.Val320Ala	RCV000410016	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062391A>G	ClinVar
CBS	P35520	p.Asp321Gly	rs1225612737	missense variant	-	NC_000021.9:g.43062388T>C	gnomAD
CBS	P35520	p.Asp321Val	VAR_066102	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys322Thr	rs751768786	missense variant	-	NC_000021.9:g.43062385T>G	ExAC,gnomAD
CBS	P35520	p.Lys322Glu	rs757588995	missense variant	-	NC_000021.9:g.43062386T>C	ExAC,gnomAD
CBS	P35520	p.Trp323Ter	RCV000363392	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062381C>T	ClinVar
CBS	P35520	p.Trp323Ter	rs863223432	stop gained	-	NC_000021.9:g.43062381C>T	gnomAD
CBS	P35520	p.Trp323Ter	RCV000197013	nonsense	-	NC_000021.9:g.43062381C>T	ClinVar
CBS	P35520	p.Asp328Asn	rs758447354	missense variant	-	NC_000021.9:g.43062368C>T	ExAC,gnomAD
CBS	P35520	p.Asp328Asn	RCV000755891	missense variant	-	NC_000021.9:g.43062368C>T	ClinVar
CBS	P35520	p.Asp328Asn	RCV000665455	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062368C>T	ClinVar
CBS	P35520	p.Glu329Gly	rs1165948778	missense variant	-	NC_000021.9:g.43062364T>C	gnomAD
CBS	P35520	p.Glu329Asp	rs765151853	missense variant	-	NC_000021.9:g.43062363C>G	ExAC,gnomAD
CBS	P35520	p.Ala331Ser	rs1194877209	missense variant	-	NC_000021.9:g.43062359C>A	gnomAD
CBS	P35520	p.Ala331Val	RCV000173977	missense variant	-	NC_000021.9:g.43062358G>A	ClinVar
CBS	P35520	p.Ala331Val	rs777919630	missense variant	-	NC_000021.9:g.43062358G>A	TOPMed,gnomAD
CBS	P35520	p.Ala331Val	rs777919630	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt,dbSNP
CBS	P35520	p.Ala331Val	VAR_002187	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>A	UniProt
CBS	P35520	p.Ala331Glu	rs777919630	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt,dbSNP
CBS	P35520	p.Ala331Glu	VAR_008079	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062358G>T	UniProt
CBS	P35520	p.Ala331Glu	rs777919630	missense variant	-	NC_000021.9:g.43062358G>T	TOPMed,gnomAD
CBS	P35520	p.Ala331Glu	RCV000547604	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062358G>T	ClinVar
CBS	P35520	p.AlaArg335AlaCys	rs1064793703	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	-
CBS	P35520	p.Arg336Cys	RCV000078105	missense variant	-	NC_000021.9:g.43062344G>A	ClinVar
CBS	P35520	p.Arg336Ter	RCV000670102	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062340_43062343del	ClinVar
CBS	P35520	p.Arg336Cys	RCV000487415	missense variant	-	NC_000021.9:g.43062344_43062345delinsAA	ClinVar
CBS	P35520	p.Arg336Cys	RCV000169310	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062344G>A	ClinVar
CBS	P35520	p.Arg336Cys	rs398123151	missense variant	-	NC_000021.9:g.43062344G>A	ExAC,gnomAD
CBS	P35520	p.Arg336His	rs760417941	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt,dbSNP
CBS	P35520	p.Arg336His	VAR_008080	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43062343C>T	UniProt
CBS	P35520	p.Arg336His	rs760417941	missense variant	-	NC_000021.9:g.43062343C>T	ExAC,gnomAD
CBS	P35520	p.Arg336His	RCV000409189	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43062343C>T	ClinVar
CBS	P35520	p.Arg336Leu	rs760417941	missense variant	-	NC_000021.9:g.43062343C>A	ExAC,gnomAD
CBS	P35520	p.Met337Val	rs372822486	missense variant	-	NC_000021.9:g.43062341T>C	ESP,ExAC,gnomAD
CBS	P35520	p.Met337Val	RCV000243887	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
CBS	P35520	p.Met337Leu	RCV000199004	missense variant	-	NC_000021.9:g.43062341T>G	ClinVar
CBS	P35520	p.Met337Val	RCV000196067	missense variant	-	NC_000021.9:g.43062341T>C	ClinVar
CBS	P35520	p.Met337Arg	rs771910579	missense variant	-	NC_000021.9:g.43062340A>C	ExAC,gnomAD
CBS	P35520	p.Met337Leu	rs372822486	missense variant	-	NC_000021.9:g.43062341T>G	ESP,ExAC,gnomAD
CBS	P35520	p.Leu338Pro	VAR_021797	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala340Thr	rs1321607022	missense variant	-	NC_000021.9:g.43062332C>T	gnomAD
CBS	P35520	p.Ala340Val	rs1282760211	missense variant	-	NC_000021.9:g.43062331G>A	gnomAD
CBS	P35520	p.Gly347Cys	rs771298943	missense variant	-	NC_000021.9:g.43062311C>A	ExAC,gnomAD
CBS	P35520	p.Gly347Ser	RCV000197584	missense variant	-	NC_000021.9:g.43062311C>T	ClinVar
CBS	P35520	p.Gly347Ser	rs771298943	missense variant	-	NC_000021.9:g.43062311C>T	ExAC,gnomAD
CBS	P35520	p.Gly347Ser	RCV000780082	missense variant	Homocystinuria	NC_000021.9:g.43062311C>T	ClinVar
CBS	P35520	p.Ser349Gly	rs763890444	missense variant	-	NC_000021.9:g.43060541T>C	ExAC,gnomAD
CBS	P35520	p.Ser349Thr	rs973369208	missense variant	-	NC_000021.9:g.43060540C>G	TOPMed
CBS	P35520	p.Ser349Asn	VAR_021799	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ala350Val	rs1400722415	missense variant	-	NC_000021.9:g.43060537G>A	gnomAD
CBS	P35520	p.Ala350Ser	rs762513900	missense variant	-	NC_000021.9:g.43060538C>A	ExAC,gnomAD
CBS	P35520	p.Gly351Asp	rs1160971811	missense variant	-	NC_000021.9:g.43060534C>T	gnomAD
CBS	P35520	p.Gly351Arg	RCV000195902	missense variant	-	NC_000021.9:g.43060535C>G	ClinVar
CBS	P35520	p.Gly351Arg	rs774926464	missense variant	-	NC_000021.9:g.43060535C>G	ExAC,gnomAD
CBS	P35520	p.Ser352Asn	VAR_008081	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr353Met	RCV000169466	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060528G>A	ClinVar
CBS	P35520	p.Thr353Met	rs121964972	missense variant	-	NC_000021.9:g.43060528G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr353Met	rs121964972	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt,dbSNP
CBS	P35520	p.Thr353Met	VAR_008082	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060528G>A	UniProt
CBS	P35520	p.Val354Ala	rs773726723	missense variant	-	NC_000021.9:g.43060525A>G	ExAC,gnomAD
CBS	P35520	p.Ala355Pro	rs1192581453	missense variant	-	NC_000021.9:g.43060523C>G	gnomAD
CBS	P35520	p.Ala355Val	RCV000598006	missense variant	-	NC_000021.9:g.43060522G>A	ClinVar
CBS	P35520	p.Ala355Thr	rs1192581453	missense variant	-	NC_000021.9:g.43060523C>T	gnomAD
CBS	P35520	p.Ala355Val	rs772384826	missense variant	-	NC_000021.9:g.43060522G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val356Gly	rs370163789	missense variant	-	NC_000021.9:g.43060519A>C	gnomAD
CBS	P35520	p.Val356Ala	rs370163789	missense variant	-	NC_000021.9:g.43060519A>G	gnomAD
CBS	P35520	p.Val356Met	rs1220129204	missense variant	-	NC_000021.9:g.43060520C>T	gnomAD
CBS	P35520	p.Val356Ala	RCV000618875	missense variant	-	NC_000021.9:g.43060519A>G	ClinVar
CBS	P35520	p.Ala357Gly	RCV000473415	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060516G>C	ClinVar
CBS	P35520	p.Ala357Gly	RCV000199512	missense variant	-	NC_000021.9:g.43060516G>C	ClinVar
CBS	P35520	p.Ala357Thr	rs1292263120	missense variant	-	NC_000021.9:g.43060517C>T	gnomAD
CBS	P35520	p.Ala357Gly	rs863223437	missense variant	-	NC_000021.9:g.43060516G>C	TOPMed,gnomAD
CBS	P35520	p.Ala357Val	rs863223437	missense variant	-	NC_000021.9:g.43060516G>A	TOPMed,gnomAD
CBS	P35520	p.Val358Met	RCV000474043	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Val358Leu	rs148589243	missense variant	-	NC_000021.9:g.43060514C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val358Met	rs148589243	missense variant	-	NC_000021.9:g.43060514C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val358Met	RCV000199585	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Val358Met	RCV000420634	missense variant	-	NC_000021.9:g.43060514C>T	ClinVar
CBS	P35520	p.Lys359Asn	rs1300646763	missense variant	-	NC_000021.9:g.43060509C>G	gnomAD
CBS	P35520	p.Lys359Met	rs779940364	missense variant	-	NC_000021.9:g.43060510T>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala360Asp	rs1365464994	missense variant	-	NC_000021.9:g.43060507G>T	gnomAD
CBS	P35520	p.Ala360Thr	rs1423323590	missense variant	-	NC_000021.9:g.43060508C>T	gnomAD
CBS	P35520	p.AlaAla360AlaThr	rs1555873407	missense variant	-	NC_000021.9:g.43060505_43060506delinsTA	-
CBS	P35520	p.Ala360Val	rs1365464994	missense variant	-	NC_000021.9:g.43060507G>A	gnomAD
CBS	P35520	p.Ala361Thr	RCV000648114	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060505_43060506delinsTA	ClinVar
CBS	P35520	p.Ala361Val	rs370851632	missense variant	-	NC_000021.9:g.43060504G>A	ESP,TOPMed,gnomAD
CBS	P35520	p.Ala361Thr	rs745764562	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt,dbSNP
CBS	P35520	p.Ala361Thr	VAR_046934	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060505C>T	UniProt
CBS	P35520	p.Ala361Thr	rs745764562	missense variant	-	NC_000021.9:g.43060505C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala361Val	RCV000576355	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060504G>A	ClinVar
CBS	P35520	p.Glu363Ter	RCV000482968	frameshift	-	NC_000021.9:g.43060500del	ClinVar
CBS	P35520	p.Glu363Lys	rs1478217276	missense variant	-	NC_000021.9:g.43060499C>T	gnomAD
CBS	P35520	p.Leu364Pro	rs1265455165	missense variant	-	NC_000021.9:g.43060495A>G	gnomAD
CBS	P35520	p.Glu366Lys	rs757098275	missense variant	-	NC_000021.9:g.43060490C>T	ExAC,gnomAD
CBS	P35520	p.Gly367Ser	rs1269436351	missense variant	-	NC_000021.9:g.43060487C>T	gnomAD
CBS	P35520	p.Arg369Cys	RCV000242755	missense variant	-	NC_000021.9:g.43060481G>A	ClinVar
CBS	P35520	p.Arg369Cys	rs117687681	missense variant	-	NC_000021.9:g.43060481G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg369Pro	rs11700812	missense variant	-	NC_000021.9:g.43060480C>G	ExAC,gnomAD
CBS	P35520	p.Arg369Cys	RCV000231839	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060481G>A	ClinVar
CBS	P35520	p.Arg369His	rs11700812	missense variant	-	NC_000021.9:g.43060480C>T	ExAC,gnomAD
CBS	P35520	p.Cys370Tyr	rs757920190	missense variant	-	NC_000021.9:g.43060477C>T	ExAC,gnomAD
CBS	P35520	p.Cys370Tyr	rs757920190	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt,dbSNP
CBS	P35520	p.Cys370Tyr	VAR_008085	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060477C>T	UniProt
CBS	P35520	p.Cys370Arg	rs1192694513	missense variant	-	NC_000021.9:g.43060478A>G	gnomAD
CBS	P35520	p.Cys370Tyr	RCV000482454	missense variant	-	NC_000021.9:g.43060477C>T	ClinVar
CBS	P35520	p.Val371Met	rs372010465	missense variant	-	NC_000021.9:g.43060475C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val371Met	RCV000196393	missense variant	-	NC_000021.9:g.43060475C>T	ClinVar
CBS	P35520	p.Val371Leu	rs372010465	missense variant	-	NC_000021.9:g.43060475C>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val371Met	rs372010465	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt,dbSNP
CBS	P35520	p.Val371Met	VAR_002190	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060475C>T	UniProt
CBS	P35520	p.Val372Phe	rs775354680	missense variant	-	NC_000021.9:g.43060472C>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val372Ile	rs775354680	missense variant	-	NC_000021.9:g.43060472C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Val372Phe	RCV000200072	missense variant	-	NC_000021.9:g.43060472C>A	ClinVar
CBS	P35520	p.Asp376Asn	rs1170128038	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt,dbSNP
CBS	P35520	p.Asp376Asn	VAR_046935	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060460C>T	UniProt
CBS	P35520	p.Asp376Asn	rs1170128038	missense variant	-	NC_000021.9:g.43060460C>T	gnomAD
CBS	P35520	p.Ser377Thr	rs920511437	missense variant	-	NC_000021.9:g.43060457A>T	TOPMed
CBS	P35520	p.Val378Leu	rs547713475	missense variant	-	NC_000021.9:g.43060454C>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Arg379Trp	rs769080151	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt,dbSNP
CBS	P35520	p.Arg379Trp	VAR_046936	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060451G>A	UniProt
CBS	P35520	p.Arg379Gln	RCV000169171	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060450C>T	ClinVar
CBS	P35520	p.Arg379Trp	rs769080151	missense variant	-	NC_000021.9:g.43060451G>A	ExAC,gnomAD
CBS	P35520	p.Arg379Gln	rs763036586	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt,dbSNP
CBS	P35520	p.Arg379Gln	VAR_021801	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43060450C>T	UniProt
CBS	P35520	p.Arg379Gln	rs763036586	missense variant	-	NC_000021.9:g.43060450C>T	ExAC,gnomAD
CBS	P35520	p.Arg379Trp	RCV000763061	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43060451G>A	ClinVar
CBS	P35520	p.Thr383Ile	RCV000701888	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059301G>A	ClinVar
CBS	P35520	p.Lys384Glu	rs121964967	missense variant	-	NC_000021.9:g.43059299T>C	-
CBS	P35520	p.Lys384Glu	rs121964967	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt,dbSNP
CBS	P35520	p.Lys384Glu	VAR_002191	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43059299T>C	UniProt
CBS	P35520	p.Lys384Glu	RCV000000145	missense variant	Homocystinuria, pyridoxine-responsive	NC_000021.9:g.43059299T>C	ClinVar
CBS	P35520	p.Lys384Asn	VAR_008086	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Asp388Gly	rs1421332904	missense variant	-	NC_000021.9:g.43059286T>C	gnomAD
CBS	P35520	p.Asp388Asn	rs375513996	missense variant	-	NC_000021.9:g.43059287C>T	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp388Tyr	rs375513996	missense variant	-	NC_000021.9:g.43059287C>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg389Thr	RCV000596015	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
CBS	P35520	p.Arg389Thr	RCV000620693	missense variant	-	NC_000021.9:g.43059283C>G	ClinVar
CBS	P35520	p.Arg389Lys	rs1383178636	missense variant	-	NC_000021.9:g.43059283C>T	gnomAD
CBS	P35520	p.Arg389Thr	rs1383178636	missense variant	-	NC_000021.9:g.43059283C>G	gnomAD
CBS	P35520	p.Met391Ile	VAR_008087	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Lys394Arg	rs1424033329	missense variant	-	NC_000021.9:g.43059268T>C	gnomAD
CBS	P35520	p.Gly395Val	rs1257759867	missense variant	-	NC_000021.9:g.43059265C>A	gnomAD
CBS	P35520	p.Glu399Lys	rs1485255027	missense variant	-	NC_000021.9:g.43059254C>T	gnomAD
CBS	P35520	p.Leu402Ile	rs763217939	missense variant	-	NC_000021.9:g.43059245G>T	ExAC,gnomAD
CBS	P35520	p.Leu402Pro	rs371214833	missense variant	-	NC_000021.9:g.43059244A>G	ESP,ExAC,gnomAD
CBS	P35520	p.Leu402Pro	RCV000555545	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059244A>G	ClinVar
CBS	P35520	p.Thr403Met	RCV000372121	missense variant	-	NC_000021.9:g.43059241G>A	ClinVar
CBS	P35520	p.Thr403Met	rs886042297	missense variant	-	NC_000021.9:g.43059241G>A	gnomAD
CBS	P35520	p.Glu404Asp	rs376942014	missense variant	-	NC_000021.9:g.43059237C>G	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Lys405Gln	rs570121873	missense variant	-	NC_000021.9:g.43059236T>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Lys405Ter	rs570121873	stop gained	-	NC_000021.9:g.43059236T>A	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Lys406Ter	RCV000724407	frameshift	-	NC_000021.9:g.43059231del	ClinVar
CBS	P35520	p.Lys406Ter	RCV000174443	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059231del	ClinVar
CBS	P35520	p.Lys406Arg	rs766523013	missense variant	-	NC_000021.9:g.43059232T>C	ExAC,gnomAD
CBS	P35520	p.Lys406Gln	rs992398873	missense variant	-	NC_000021.9:g.43059233T>G	TOPMed,gnomAD
CBS	P35520	p.Trp408Ter	RCV000588547	frameshift	Homocystinuria	NC_000021.9:g.43059230del	ClinVar
CBS	P35520	p.Trp408Ter	RCV000666270	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43059230del	ClinVar
CBS	P35520	p.Trp408Cys	rs1445695397	missense variant	-	NC_000021.9:g.43058968C>A	gnomAD
CBS	P35520	p.Trp408Ter	rs863223433	stop gained	-	NC_000021.9:g.43059226C>T	-
CBS	P35520	p.Trp408Ter	RCV000196138	nonsense	-	NC_000021.9:g.43059226C>T	ClinVar
CBS	P35520	p.Trp409Ter	rs376916741	stop gained	-	NC_000021.9:g.43058966C>T	ExAC,gnomAD
CBS	P35520	p.Trp409Leu	rs376916741	missense variant	-	NC_000021.9:g.43058966C>A	ExAC,gnomAD
CBS	P35520	p.Trp409Ter	rs1332950288	stop gained	-	NC_000021.9:g.43058965C>T	gnomAD
CBS	P35520	p.Trp410Ter	rs1467814360	stop gained	-	NC_000021.9:g.43058962C>T	gnomAD
CBS	P35520	p.His411Asn	rs1404697104	missense variant	-	NC_000021.9:g.43058961G>T	gnomAD
CBS	P35520	p.Arg413His	rs574577579	missense variant	-	NC_000021.9:g.43058954C>T	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Arg413Cys	rs767595472	missense variant	-	NC_000021.9:g.43058955G>A	ExAC,gnomAD
CBS	P35520	p.Val414Ile	rs1379816380	missense variant	-	NC_000021.9:g.43058952C>T	gnomAD
CBS	P35520	p.Gln415Arg	rs1180174934	missense variant	-	NC_000021.9:g.43058948T>C	gnomAD
CBS	P35520	p.Glu416Gln	rs751477766	missense variant	-	NC_000021.9:g.43058946C>G	ExAC,gnomAD
CBS	P35520	p.Gly418Asp	rs1460109011	missense variant	-	NC_000021.9:g.43058939C>T	gnomAD
CBS	P35520	p.Gly418Ser	rs1200734227	missense variant	-	NC_000021.9:g.43058940C>T	gnomAD
CBS	P35520	p.Gly418Val	rs1460109011	missense variant	-	NC_000021.9:g.43058939C>A	gnomAD
CBS	P35520	p.Ala421Asp	rs886039021	missense variant	-	NC_000021.9:g.43058930G>T	gnomAD
CBS	P35520	p.Ala421Asp	RCV000248108	missense variant	-	NC_000021.9:g.43058930G>T	ClinVar
CBS	P35520	p.Pro422Leu	rs28934892	missense variant	-	NC_000021.9:g.43058927G>A	gnomAD
CBS	P35520	p.Pro422Leu	rs28934892	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt,dbSNP
CBS	P35520	p.Pro422Leu	VAR_021802	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058927G>A	UniProt
CBS	P35520	p.Pro422Leu	RCV000000152	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058927G>A	ClinVar
CBS	P35520	p.Val425Leu	rs138211175	missense variant	-	NC_000021.9:g.43058919C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val425Met	rs138211175	missense variant	-	NC_000021.9:g.43058919C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Val425Met	RCV000592999	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Val425Met	RCV000620815	missense variant	-	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Val425Met	RCV000554628	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058919C>T	ClinVar
CBS	P35520	p.Leu426Phe	rs1311066540	missense variant	-	NC_000021.9:g.43058916G>A	gnomAD
CBS	P35520	p.Pro427Leu	rs863223434	missense variant	-	NC_000021.9:g.43058912G>A	gnomAD
CBS	P35520	p.Pro427Leu	RCV000584030	missense variant	-	NC_000021.9:g.43058912G>A	ClinVar
CBS	P35520	p.Pro427Ser	rs1450044796	missense variant	-	NC_000021.9:g.43058913G>A	gnomAD
CBS	P35520	p.Thr428Asn	rs776175674	missense variant	-	NC_000021.9:g.43058909G>T	ExAC,gnomAD
CBS	P35520	p.Ile429Val	rs1405061619	missense variant	-	NC_000021.9:g.43058907T>C	gnomAD
CBS	P35520	p.Thr430Ala	rs947698557	missense variant	-	NC_000021.9:g.43058904T>C	TOPMed
CBS	P35520	p.Cys431Tyr	rs1381340460	missense variant	-	NC_000021.9:g.43058900C>T	gnomAD
CBS	P35520	p.Gly432Arg	rs1180854779	missense variant	-	NC_000021.9:g.43058898C>T	gnomAD
CBS	P35520	p.His433Pro	rs1237063529	missense variant	-	NC_000021.9:g.43058894T>G	gnomAD
CBS	P35520	p.Thr434Asn	RCV000667146	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058891G>T	ClinVar
CBS	P35520	p.Thr434Asn	rs1555872506	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt,dbSNP
CBS	P35520	p.Thr434Asn	VAR_008088	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058891G>T	UniProt
CBS	P35520	p.Thr434Asn	rs1555872506	missense variant	-	NC_000021.9:g.43058891G>T	-
CBS	P35520	p.Ile435Asn	rs1282119406	missense variant	-	NC_000021.9:g.43058888A>T	gnomAD
CBS	P35520	p.Ile435Thr	RCV000666335	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058888A>G	ClinVar
CBS	P35520	p.Ile435Thr	rs1282119406	missense variant	-	NC_000021.9:g.43058888A>G	gnomAD
CBS	P35520	p.Ile435Thr	VAR_008089	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu436Lys	rs1354271840	missense variant	-	NC_000021.9:g.43058886C>T	gnomAD
CBS	P35520	p.Leu438Phe	rs1243421704	missense variant	-	NC_000021.9:g.43058880G>A	gnomAD
CBS	P35520	p.Arg439Gln	rs756467921	missense variant	-	NC_000021.9:g.43058876C>T	ExAC,gnomAD
CBS	P35520	p.Arg439Gln	RCV000169494	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058876C>T	ClinVar
CBS	P35520	p.Arg439Trp	rs780508029	missense variant	-	NC_000021.9:g.43058877G>A	ExAC,gnomAD
CBS	P35520	p.Glu440Gln	rs1449634173	missense variant	-	NC_000021.9:g.43058874C>G	gnomAD
CBS	P35520	p.Lys441Ter	RCV000412412	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058871T>A	ClinVar
CBS	P35520	p.Lys441Ter	rs1057516645	stop gained	-	NC_000021.9:g.43058871T>A	-
CBS	P35520	p.Gly442Asp	rs1324151005	missense variant	-	NC_000021.9:g.43058867C>T	gnomAD
CBS	P35520	p.Asp444Asn	RCV000174656	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058862C>T	ClinVar
CBS	P35520	p.Asp444Asn	rs28934891	missense variant	-	NC_000021.9:g.43058862C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp444Asn	rs28934891	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt,dbSNP
CBS	P35520	p.Asp444Asn	VAR_002192	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058862C>T	UniProt
CBS	P35520	p.Ala446Thr	rs1413430493	missense variant	-	NC_000021.9:g.43058856C>T	gnomAD
CBS	P35520	p.Ala446Val	rs757347527	missense variant	-	NC_000021.9:g.43058855G>A	ExAC,gnomAD
CBS	P35520	p.Ala446Ser	VAR_066103	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Pro447Thr	rs764165836	missense variant	-	NC_000021.9:g.43058853G>T	ExAC,gnomAD
CBS	P35520	p.Val448Leu	rs865989946	missense variant	-	NC_000021.9:g.43058850C>A	TOPMed,gnomAD
CBS	P35520	p.Val448Met	rs865989946	missense variant	-	NC_000021.9:g.43058850C>T	TOPMed,gnomAD
CBS	P35520	p.Val448Met	RCV000490064	missense variant	-	NC_000021.9:g.43058850C>T	ClinVar
CBS	P35520	p.Val449Gly	VAR_074593	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Glu451Asp	RCV000764259	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058839C>G	ClinVar
CBS	P35520	p.Glu451Asp	RCV000198168	missense variant	-	NC_000021.9:g.43058839C>G	ClinVar
CBS	P35520	p.Glu451Asp	rs367962613	missense variant	-	NC_000021.9:g.43058839C>G	ESP,ExAC,gnomAD
CBS	P35520	p.Glu451Gly	rs1220059415	missense variant	-	NC_000021.9:g.43058840T>C	gnomAD
CBS	P35520	p.Ala452Val	rs201585750	missense variant	-	NC_000021.9:g.43058837G>A	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Ala452Glu	rs201585750	missense variant	-	NC_000021.9:g.43058837G>T	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly453Glu	RCV000248732	missense variant	-	NC_000021.9:g.43058834C>T	ClinVar
CBS	P35520	p.Gly453Glu	rs886039146	missense variant	-	NC_000021.9:g.43058834C>T	gnomAD
CBS	P35520	p.Gly453Arg	rs886057099	missense variant	-	NC_000021.9:g.43058835C>T	gnomAD
CBS	P35520	p.Gly453Trp	rs886057099	missense variant	-	NC_000021.9:g.43058835C>A	gnomAD
CBS	P35520	p.Gly453Trp	RCV000339973	missense variant	Homocystinuria	NC_000021.9:g.43058835C>A	ClinVar
CBS	P35520	p.Val454Ala	rs1398459455	missense variant	-	NC_000021.9:g.43058251A>G	gnomAD
CBS	P35520	p.Val454Glu	VAR_002193	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Ile455Asn	rs751797189	missense variant	-	NC_000021.9:g.43058248A>T	ExAC,gnomAD
CBS	P35520	p.Leu456Pro	VAR_021803	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Met458Thr	rs758500477	missense variant	-	NC_000021.9:g.43058239A>G	ExAC,gnomAD
CBS	P35520	p.Thr460Met	rs752596508	missense variant	-	NC_000021.9:g.43058233G>A	ExAC,gnomAD
CBS	P35520	p.Leu461Phe	rs902200637	missense variant	-	NC_000021.9:g.43058231G>A	TOPMed
CBS	P35520	p.Met464Thr	rs141428279	missense variant	-	NC_000021.9:g.43058221A>G	ESP,ExAC
CBS	P35520	p.Ser466Leu	rs121964971	missense variant	-	NC_000021.9:g.43058215G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser466Leu	rs121964971	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt,dbSNP
CBS	P35520	p.Ser466Leu	VAR_008091	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43058215G>A	UniProt
CBS	P35520	p.Ser466Leu	RCV000000153	missense variant	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	NC_000021.9:g.43058215G>A	ClinVar
CBS	P35520	p.Ser467Phe	rs1237233267	missense variant	-	NC_000021.9:g.43058212G>A	gnomAD
CBS	P35520	p.Gly471Arg	rs201098477	missense variant	-	NC_000021.9:g.43058201C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Gly471Arg	RCV000200328	missense variant	-	NC_000021.9:g.43058201C>T	ClinVar
CBS	P35520	p.Gly471Arg	RCV000764258	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058201C>T	ClinVar
CBS	P35520	p.Gln474Ter	rs562625029	stop gained	-	NC_000021.9:g.43058192G>A	1000Genomes
CBS	P35520	p.Pro475Leu	rs367711379	missense variant	-	NC_000021.9:g.43058188G>A	ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Asp477Glu	RCV000617298	missense variant	-	NC_000021.9:g.43058181G>T	ClinVar
CBS	P35520	p.Asp477Glu	rs1555871920	missense variant	-	NC_000021.9:g.43058181G>T	-
CBS	P35520	p.Val479Ala	RCV000253951	missense variant	-	NC_000021.9:g.43058176A>G	ClinVar
CBS	P35520	p.Val479Ala	rs886038933	missense variant	-	NC_000021.9:g.43058176A>G	gnomAD
CBS	P35520	p.Ile483Thr	rs746393838	missense variant	-	NC_000021.9:g.43058164A>G	ExAC,gnomAD
CBS	P35520	p.Tyr484Phe	rs1555871913	missense variant	-	NC_000021.9:g.43058161T>A	-
CBS	P35520	p.Tyr484Phe	RCV000557667	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>A	ClinVar
CBS	P35520	p.Tyr484Cys	rs1555871913	missense variant	-	NC_000021.9:g.43058161T>C	-
CBS	P35520	p.Tyr484Cys	RCV000648119	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43058161T>C	ClinVar
CBS	P35520	p.Lys485Glu	RCV000403386	missense variant	Homocystinuria	NC_000021.9:g.43058159T>C	ClinVar
CBS	P35520	p.Lys485Glu	rs886057098	missense variant	-	NC_000021.9:g.43058159T>C	-
CBS	P35520	p.Arg491His	RCV000483442	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
CBS	P35520	p.Arg491His	rs747419767	missense variant	-	NC_000021.9:g.43056883C>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg491Cys	rs1339830457	missense variant	-	NC_000021.9:g.43056884G>A	gnomAD
CBS	P35520	p.Arg491His	RCV000249170	missense variant	-	NC_000021.9:g.43056883C>T	ClinVar
CBS	P35520	p.Thr493Met	rs996249907	missense variant	-	NC_000021.9:g.43056877G>A	TOPMed,gnomAD
CBS	P35520	p.Thr495Met	RCV000482429	missense variant	-	NC_000021.9:g.43056871G>A	ClinVar
CBS	P35520	p.Thr495Ala	rs1292687681	missense variant	-	NC_000021.9:g.43056872T>C	gnomAD
CBS	P35520	p.Thr495Lys	rs772344567	missense variant	-	NC_000021.9:g.43056871G>T	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr495Met	rs772344567	missense variant	-	NC_000021.9:g.43056871G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Thr495Met	RCV000463603	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056871G>A	ClinVar
CBS	P35520	p.Ser500Leu	rs755106884	missense variant	-	NC_000021.9:g.43056856G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Ser500Leu	rs755106884	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt,dbSNP
CBS	P35520	p.Ser500Leu	VAR_074594	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43056856G>A	UniProt
CBS	P35520	p.Ser500Ter	RCV000593857	frameshift	-	NC_000021.9:g.43056857_43056858AG[1]	ClinVar
CBS	P35520	p.Leu503Val	rs1265746216	missense variant	-	NC_000021.9:g.43056848G>C	gnomAD
CBS	P35520	p.Met505Ile	rs200613751	missense variant	-	NC_000021.9:g.43056840C>T	1000Genomes,gnomAD
CBS	P35520	p.Asp506Asn	rs1317348103	missense variant	-	NC_000021.9:g.43056839C>T	gnomAD
CBS	P35520	p.Ala509Val	rs794727161	missense variant	-	NC_000021.9:g.43056829G>A	-
CBS	P35520	p.Ala509Thr	rs1060500680	missense variant	-	NC_000021.9:g.43056830C>T	TOPMed,gnomAD
CBS	P35520	p.Ala509Val	RCV000174986	missense variant	-	NC_000021.9:g.43056829G>A	ClinVar
CBS	P35520	p.Ala509Thr	RCV000467733	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056830C>T	ClinVar
CBS	P35520	p.Val511Met	rs1387121972	missense variant	-	NC_000021.9:g.43056824C>T	gnomAD
CBS	P35520	p.His513Arg	rs1328834710	missense variant	-	NC_000021.9:g.43056817T>C	gnomAD
CBS	P35520	p.His513Gln	RCV000424660	missense variant	-	NC_000021.9:g.43056816G>C	ClinVar
CBS	P35520	p.His513Gln	rs187828882	missense variant	-	NC_000021.9:g.43056816G>C	1000Genomes,ExAC,TOPMed,gnomAD
CBS	P35520	p.Glu514Gln	rs145228319	missense variant	-	NC_000021.9:g.43056815C>G	ESP,ExAC,gnomAD
CBS	P35520	p.Glu514Lys	rs145228319	missense variant	-	NC_000021.9:g.43056815C>T	ESP,ExAC,gnomAD
CBS	P35520	p.Gln515Ter	rs1463986810	stop gained	-	NC_000021.9:g.43056812G>A	gnomAD
CBS	P35520	p.Ile516Ter	RCV000669346	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43056810del	ClinVar
CBS	P35520	p.Gln517His	rs750311684	missense variant	-	NC_000021.9:g.43056804C>G	ExAC,gnomAD
CBS	P35520	p.Tyr518His	rs1198678305	missense variant	-	NC_000021.9:g.43056803A>G	gnomAD
CBS	P35520	p.Gly522Arg	rs201916339	missense variant	-	NC_000021.9:g.43053972C>T	ExAC,gnomAD
CBS	P35520	p.Lys523Ter	RCV000169113	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053972del	ClinVar
CBS	P35520	p.Ser524Pro	rs747984710	missense variant	-	NC_000021.9:g.43053966A>G	ExAC,gnomAD
CBS	P35520	p.Ser525Asn	rs1359693246	missense variant	-	NC_000021.9:g.43053962C>T	gnomAD
CBS	P35520	p.Gln526Ter	RCV000672976	nonsense	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053960G>A	ClinVar
CBS	P35520	p.Gln526Ter	rs1555869958	stop gained	-	NC_000021.9:g.43053960G>A	-
CBS	P35520	p.Gln526Lys	VAR_046937	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Arg527Trp	rs1455031864	missense variant	-	NC_000021.9:g.43053957G>A	gnomAD
CBS	P35520	p.Phe531Leu	rs768230991	missense variant	-	NC_000021.9:g.43053943G>T	ExAC,gnomAD
CBS	P35520	p.Gly532Arg	rs748953468	missense variant	-	NC_000021.9:g.43053942C>T	ExAC,gnomAD
CBS	P35520	p.Gly532Arg	RCV000594688	missense variant	-	NC_000021.9:g.43053942C>T	ClinVar
CBS	P35520	p.Gly532Arg	RCV000696029	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053942C>T	ClinVar
CBS	P35520	p.Val533Leu	RCV000703932	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053939C>A	ClinVar
CBS	P35520	p.Val534Ile	rs779569366	missense variant	-	NC_000021.9:g.43053936C>T	ExAC,gnomAD
CBS	P35520	p.Val534Asp	VAR_008093	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Thr535Ter	RCV000666158	frameshift	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053933_43053934del	ClinVar
CBS	P35520	p.Ala536Thr	rs747522167	missense variant	-	NC_000021.9:g.43053930C>T	ExAC,gnomAD
CBS	P35520	p.Leu539Ser	RCV000675072	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053920A>G	ClinVar
CBS	P35520	p.Leu539Ser	rs121964968	missense variant	-	NC_000021.9:g.43053920A>G	1000Genomes,ExAC,gnomAD
CBS	P35520	p.Leu539Ser	rs121964968	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt,dbSNP
CBS	P35520	p.Leu539Ser	VAR_002194	missense variant	Cystathionine beta-synthase deficiency (CBSD)	NC_000021.9:g.43053920A>G	UniProt
CBS	P35520	p.Leu540Gln	VAR_074595	Missense	Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]	-	UniProt
CBS	P35520	p.Val543Met	rs753183931	missense variant	-	NC_000021.9:g.43053909C>T	ExAC,gnomAD
CBS	P35520	p.Ala545Ser	rs139651937	missense variant	-	NC_000021.9:g.43053903C>A	ESP,ExAC,gnomAD
CBS	P35520	p.Ala545Gly	rs754031824	missense variant	-	NC_000021.9:g.43053902G>C	ExAC,gnomAD
CBS	P35520	p.Arg548Trp	rs766444814	missense variant	-	NC_000021.9:g.43053894G>A	ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg548Gln	RCV000227198	missense variant	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053893C>T	ClinVar
CBS	P35520	p.Arg548Gln	rs150828989	missense variant	-	NC_000021.9:g.43053893C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CBS	P35520	p.Arg548Gln	rs150828989	missense variant	-	NC_000021.9:g.43053893C>T	UniProt,dbSNP
CBS	P35520	p.Arg548Gln	VAR_046938	missense variant	-	NC_000021.9:g.43053893C>T	UniProt
CBS	P35520	p.Ter552Cys	rs1365095601	stop lost	-	NC_000021.9:g.43053880T>G	gnomAD
CBS	P35520	p.Ter552Gly	rs767500762	stop lost	-	NC_000021.9:g.43053882A>C	ExAC,gnomAD
CBS	P35520	p.Ter552Cys	RCV000674493	stop lost	Homocystinuria due to CBS deficiency	NC_000021.9:g.43053880T>G	ClinVar
MSX2	P35548	p.Ser3Phe	rs201724372	missense variant	-	NC_000005.10:g.174724667C>T	ExAC,gnomAD
MSX2	P35548	p.Pro4Leu	rs776192704	missense variant	-	NC_000005.10:g.174724670C>T	ExAC,gnomAD
MSX2	P35548	p.Pro4Ala	rs768338363	missense variant	-	NC_000005.10:g.174724669C>G	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Ser5Cys	rs1353927283	missense variant	-	NC_000005.10:g.174724673C>G	gnomAD
MSX2	P35548	p.Lys6Glu	rs764608651	missense variant	-	NC_000005.10:g.174724675A>G	ExAC,gnomAD
MSX2	P35548	p.Gly7Arg	rs1304383366	missense variant	-	NC_000005.10:g.174724678G>C	TOPMed,gnomAD
MSX2	P35548	p.Asn8Ser	rs367636705	missense variant	-	NC_000005.10:g.174724682A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Asp14Glu	rs1220617532	missense variant	-	NC_000005.10:g.174724701C>A	gnomAD
MSX2	P35548	p.Glu16Val	rs751397598	missense variant	-	NC_000005.10:g.174724706A>T	ExAC,gnomAD
MSX2	P35548	p.Glu16Lys	rs1470329113	missense variant	-	NC_000005.10:g.174724705G>A	TOPMed
MSX2	P35548	p.Gly17Cys	rs754789827	missense variant	-	NC_000005.10:g.174724708G>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Gly17Ser	rs754789827	missense variant	-	NC_000005.10:g.174724708G>A	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Val21Gly	rs1484867287	missense variant	-	NC_000005.10:g.174724721T>G	TOPMed,gnomAD
MSX2	P35548	p.Val21Met	rs1023578107	missense variant	-	NC_000005.10:g.174724720G>A	TOPMed,gnomAD
MSX2	P35548	p.Val21Leu	rs1023578107	missense variant	-	NC_000005.10:g.174724720G>C	TOPMed,gnomAD
MSX2	P35548	p.Val21Leu	rs1023578107	missense variant	-	NC_000005.10:g.174724720G>T	TOPMed,gnomAD
MSX2	P35548	p.Ala22Thr	rs764356797	missense variant	-	NC_000005.10:g.174724723G>A	ExAC,gnomAD
MSX2	P35548	p.Ala22Gly	rs754048064	missense variant	-	NC_000005.10:g.174724724C>G	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Gly23Arg	rs757530512	missense variant	-	NC_000005.10:g.174724726G>A	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Gly23Val	rs1184315287	missense variant	-	NC_000005.10:g.174724727G>T	gnomAD
MSX2	P35548	p.Gly25Arg	rs778800326	missense variant	-	NC_000005.10:g.174724732G>C	ExAC,gnomAD
MSX2	P35548	p.Pro26Leu	rs745950729	missense variant	-	NC_000005.10:g.174724736C>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Pro26Ser	rs1189500195	missense variant	-	NC_000005.10:g.174724735C>T	TOPMed,gnomAD
MSX2	P35548	p.Pro26Arg	rs745950729	missense variant	-	NC_000005.10:g.174724736C>G	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Gly27Glu	rs939684065	missense variant	-	NC_000005.10:g.174724739G>A	TOPMed,gnomAD
MSX2	P35548	p.Pro28Ser	rs1298578514	missense variant	-	NC_000005.10:g.174724741C>T	gnomAD
MSX2	P35548	p.Pro28Leu	rs1361478485	missense variant	-	NC_000005.10:g.174724742C>T	gnomAD
MSX2	P35548	p.Gly29Glu	rs1426493639	missense variant	-	NC_000005.10:g.174724745G>A	TOPMed,gnomAD
MSX2	P35548	p.Ala31Gly	rs907900872	missense variant	-	NC_000005.10:g.174724751C>G	TOPMed
MSX2	P35548	p.Glu32Ter	rs1220335673	stop gained	-	NC_000005.10:g.174724753G>T	gnomAD
MSX2	P35548	p.Glu32Val	rs780593593	missense variant	-	NC_000005.10:g.174724754A>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Ala35Val	rs1287168849	missense variant	-	NC_000005.10:g.174724763C>T	gnomAD
MSX2	P35548	p.Ala35Thr	rs1210698589	missense variant	-	NC_000005.10:g.174724762G>A	gnomAD
MSX2	P35548	p.Ala35Pro	rs1210698589	missense variant	-	NC_000005.10:g.174724762G>C	gnomAD
MSX2	P35548	p.Glu36Lys	rs1213128510	missense variant	-	NC_000005.10:g.174724765G>A	gnomAD
MSX2	P35548	p.Arg39Leu	rs1385761840	missense variant	-	NC_000005.10:g.174724775G>T	gnomAD
MSX2	P35548	p.Arg39Cys	rs1241043878	missense variant	-	NC_000005.10:g.174724774C>T	gnomAD
MSX2	P35548	p.Val42Ile	rs1192403644	missense variant	-	NC_000005.10:g.174724783G>A	TOPMed,gnomAD
MSX2	P35548	p.Val42Phe	rs1192403644	missense variant	-	NC_000005.10:g.174724783G>T	TOPMed,gnomAD
MSX2	P35548	p.Ser43Cys	rs1393270252	missense variant	-	NC_000005.10:g.174724787C>G	gnomAD
MSX2	P35548	p.Ser44Gly	rs1455201588	missense variant	-	NC_000005.10:g.174724789A>G	TOPMed
MSX2	P35548	p.Ser44Asn	rs560526842	missense variant	-	NC_000005.10:g.174724790G>A	1000Genomes
MSX2	P35548	p.Pro46Arg	rs781641392	missense variant	-	NC_000005.10:g.174724796C>G	ExAC,gnomAD
MSX2	P35548	p.Pro46Leu	rs781641392	missense variant	-	NC_000005.10:g.174724796C>T	ExAC,gnomAD
MSX2	P35548	p.Val49Leu	rs1253038650	missense variant	-	NC_000005.10:g.174724804G>C	TOPMed
MSX2	P35548	p.Glu50Val	rs1316428923	missense variant	-	NC_000005.10:g.174724808A>T	gnomAD
MSX2	P35548	p.Glu50Ter	rs1402690905	stop gained	-	NC_000005.10:g.174724807G>T	gnomAD
MSX2	P35548	p.Ala51Glu	rs1344807799	missense variant	-	NC_000005.10:g.174724811C>A	gnomAD
MSX2	P35548	p.Met53Val	rs932163493	missense variant	-	NC_000005.10:g.174724816A>G	TOPMed
MSX2	P35548	p.Ser54Phe	rs1327996982	missense variant	-	NC_000005.10:g.174724820C>T	TOPMed,gnomAD
MSX2	P35548	p.Asp55Tyr	rs1050530108	missense variant	-	NC_000005.10:g.174724822G>T	TOPMed
MSX2	P35548	p.Lys56Gln	rs1216322113	missense variant	-	NC_000005.10:g.174724825A>C	TOPMed
MSX2	P35548	p.Lys56Arg	rs1311328596	missense variant	-	NC_000005.10:g.174724826A>G	TOPMed
MSX2	P35548	p.Pro58Thr	rs1393259421	missense variant	-	NC_000005.10:g.174724831C>A	TOPMed,gnomAD
MSX2	P35548	p.Pro59Leu	rs747702409	missense variant	-	NC_000005.10:g.174724835C>T	ExAC,gnomAD
MSX2	P35548	p.Lys60Gln	rs1353231469	missense variant	-	NC_000005.10:g.174724837A>C	gnomAD
MSX2	P35548	p.Glu61Asp	rs769505079	missense variant	-	NC_000005.10:g.174724842G>T	ExAC,gnomAD
MSX2	P35548	p.Ala62Ser	rs1283173223	missense variant	-	NC_000005.10:g.174724843G>T	gnomAD
MSX2	P35548	p.Ala62Gly	rs890715736	missense variant	-	NC_000005.10:g.174724844C>G	TOPMed
MSX2	P35548	p.Pro64Leu	rs1223205776	missense variant	-	NC_000005.10:g.174724850C>T	gnomAD
MSX2	P35548	p.Pro64Ser	rs944917896	missense variant	-	NC_000005.10:g.174724849C>T	TOPMed,gnomAD
MSX2	P35548	p.Leu65Val	rs1041962845	missense variant	-	NC_000005.10:g.174724852C>G	TOPMed,gnomAD
MSX2	P35548	p.Pro66Arg	rs527786984	missense variant	-	NC_000005.10:g.174724856C>G	1000Genomes,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Pro66Leu	rs527786984	missense variant	-	NC_000005.10:g.174724856C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Ala67Val	rs552575619	missense variant	-	NC_000005.10:g.174724859C>T	1000Genomes,TOPMed,gnomAD
MSX2	P35548	p.Glu68Lys	rs1157748986	missense variant	-	NC_000005.10:g.174724861G>A	gnomAD
MSX2	P35548	p.Glu68Gly	rs1436246950	missense variant	-	NC_000005.10:g.174724862A>G	TOPMed
MSX2	P35548	p.Ser69Gly	rs1407617887	missense variant	-	NC_000005.10:g.174724864A>G	gnomAD
MSX2	P35548	p.Ala70Ser	rs1167204448	missense variant	-	NC_000005.10:g.174724867G>T	gnomAD
MSX2	P35548	p.Ser71Leu	rs1392292724	missense variant	-	NC_000005.10:g.174724871C>T	TOPMed,gnomAD
MSX2	P35548	p.Ser71Trp	rs1392292724	missense variant	-	NC_000005.10:g.174724871C>G	TOPMed,gnomAD
MSX2	P35548	p.Ala72Thr	rs1007791560	missense variant	-	NC_000005.10:g.174724873G>A	TOPMed,gnomAD
MSX2	P35548	p.Ala72Gly	rs1338021252	missense variant	-	NC_000005.10:g.174724874C>G	TOPMed,gnomAD
MSX2	P35548	p.Gly73Arg	rs1279326834	missense variant	-	NC_000005.10:g.174724876G>C	gnomAD
MSX2	P35548	p.Gly73Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.174724876G>A	NCI-TCGA
MSX2	P35548	p.Thr75Ala	rs1356629730	missense variant	-	NC_000005.10:g.174724882A>G	TOPMed,gnomAD
MSX2	P35548	p.Pro78Ser	rs1333463536	missense variant	-	NC_000005.10:g.174724891C>T	gnomAD
MSX2	P35548	p.Gly85Asp	rs1180890060	missense variant	-	NC_000005.10:g.174724913G>A	gnomAD
MSX2	P35548	p.Ala86Ser	rs765510086	missense variant	-	NC_000005.10:g.174724915G>T	ExAC
MSX2	P35548	p.Arg87Trp	rs750488190	missense variant	-	NC_000005.10:g.174724918C>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Arg87Gln	rs758520726	missense variant	-	NC_000005.10:g.174724919G>A	ExAC,gnomAD
MSX2	P35548	p.Ala89Ter	rs121912971	stop gained	-	NC_000005.10:g.174724924_174724925delinsTA	-
MSX2	P35548	p.Ala89Val	rs1461027798	missense variant	-	NC_000005.10:g.174724925C>T	gnomAD
MSX2	P35548	p.Ala89Ter	RCV000018478	nonsense	Parietal foramina 1 (PFM1)	NC_000005.10:g.174724924_174724925delinsTA	ClinVar
MSX2	P35548	p.Ala89Thr	rs1415931146	missense variant	-	NC_000005.10:g.174724924G>A	gnomAD
MSX2	P35548	p.His90Gln	rs752778789	missense variant	-	NC_000005.10:g.174724929C>G	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Ser91Gly	rs751966362	missense variant	-	NC_000005.10:g.174724930A>G	ExAC,gnomAD
MSX2	P35548	p.Ser91Cys	rs751966362	missense variant	-	NC_000005.10:g.174724930A>T	ExAC,gnomAD
MSX2	P35548	p.Pro92Arg	rs1341406944	missense variant	-	NC_000005.10:g.174724934C>G	gnomAD
MSX2	P35548	p.Gly93Arg	rs1416271501	missense variant	-	NC_000005.10:g.174724936G>C	gnomAD
MSX2	P35548	p.Pro94Ser	rs748554134	missense variant	-	NC_000005.10:g.174724939C>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Val96Leu	rs769329948	missense variant	-	NC_000005.10:g.174724945G>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Pro98Leu	rs777629041	missense variant	-	NC_000005.10:g.174724952C>T	ExAC,gnomAD
MSX2	P35548	p.Glu100Lys	rs1486500587	missense variant	-	NC_000005.10:g.174724957G>A	gnomAD
MSX2	P35548	p.Glu100Asp	rs1255761029	missense variant	-	NC_000005.10:g.174724959G>T	gnomAD
MSX2	P35548	p.Glu100Ala	rs774030950	missense variant	-	NC_000005.10:g.174724958A>C	ExAC,gnomAD
MSX2	P35548	p.Thr101Ala	rs550184107	missense variant	-	NC_000005.10:g.174724960A>G	1000Genomes,ExAC,gnomAD
MSX2	P35548	p.Ala102Thr	rs772051040	missense variant	-	NC_000005.10:g.174724963G>A	ExAC,gnomAD
MSX2	P35548	p.Ser103Trp	rs1474731724	missense variant	-	NC_000005.10:g.174724967C>G	gnomAD
MSX2	P35548	p.Lys105Asn	rs760574628	missense variant	-	NC_000005.10:g.174724974G>C	ExAC,gnomAD
MSX2	P35548	p.Lys105Gln	rs1437011923	missense variant	-	NC_000005.10:g.174724972A>C	gnomAD
MSX2	P35548	p.Ser106Leu	rs765421666	missense variant	-	NC_000005.10:g.174724976C>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Ser106Pro	rs1374535151	missense variant	-	NC_000005.10:g.174724975T>C	TOPMed,gnomAD
MSX2	P35548	p.Asp111Val	rs766394089	missense variant	-	NC_000005.10:g.174724991A>T	ExAC,gnomAD
MSX2	P35548	p.Ala113Val	rs367897914	missense variant	-	NC_000005.10:g.174724997C>T	ESP,ExAC,TOPMed
MSX2	P35548	p.Ala113Val	rs367897914	missense variant	-	NC_000005.10:g.174724997C>T	NCI-TCGA,NCI-TCGA Cosmic
MSX2	P35548	p.Ala114Ter	RCV000018479	nonsense	Parietal foramina 1 (PFM1)	NC_000005.10:g.174725004del	ClinVar
MSX2	P35548	p.Met116Ile	rs781782134	missense variant	-	NC_000005.10:g.174725007G>T	ExAC,gnomAD
MSX2	P35548	p.Met116Ile	rs781782134	missense variant	-	NC_000005.10:g.174725007G>A	ExAC,gnomAD
MSX2	P35548	p.Gln117Glu	rs752992492	missense variant	-	NC_000005.10:g.174725008C>G	ExAC,gnomAD
MSX2	P35548	p.Gln117Lys	rs752992492	missense variant	-	NC_000005.10:g.174725008C>A	ExAC,gnomAD
MSX2	P35548	p.Pro119His	rs777537313	missense variant	-	NC_000005.10:g.174725015C>A	ExAC,gnomAD
MSX2	P35548	p.Pro119Leu	rs777537313	missense variant	-	NC_000005.10:g.174725015C>T	ExAC,gnomAD
MSX2	P35548	p.Gly120Ser	rs1263972828	missense variant	-	NC_000005.10:g.174725017G>A	gnomAD
MSX2	P35548	p.Arg121Leu	rs771889290	missense variant	-	NC_000005.10:g.174725021G>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Arg121Gln	rs771889290	missense variant	-	NC_000005.10:g.174725021G>A	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Ser123Leu	COSM3410148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.174725027C>T	NCI-TCGA Cosmic
MSX2	P35548	p.Pro125Leu	rs746748359	missense variant	-	NC_000005.10:g.174725033C>T	ExAC,gnomAD
MSX2	P35548	p.Pro125Ser	rs372131169	missense variant	-	NC_000005.10:g.174725032C>T	ESP,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Pro126Ser	rs1172179431	missense variant	-	NC_000005.10:g.174725035C>T	gnomAD
MSX2	P35548	p.Arg127Gly	rs776428406	missense variant	-	NC_000005.10:g.174725038A>G	ExAC,gnomAD
MSX2	P35548	p.His128Gln	rs1430264873	missense variant	-	NC_000005.10:g.174729163T>G	TOPMed,gnomAD
MSX2	P35548	p.His128Pro	rs1405669891	missense variant	-	NC_000005.10:g.174729162A>C	TOPMed
MSX2	P35548	p.Met129Thr	rs4242182	missense variant	-	NC_000005.10:g.174729165T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Met129Ile	rs186769394	missense variant	-	NC_000005.10:g.174729166G>C	1000Genomes,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Met129Lys	rs4242182	missense variant	-	NC_000005.10:g.174729165T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Met129Thr	RCV000325806	missense variant	Enlarged parietal foramina	NC_000005.10:g.174729165T>C	ClinVar
MSX2	P35548	p.Met129Thr	RCV000270658	missense variant	-	NC_000005.10:g.174729165T>C	ClinVar
MSX2	P35548	p.Met129Arg	rs4242182	missense variant	-	NC_000005.10:g.174729165T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Met129Ile	rs186769394	missense variant	-	NC_000005.10:g.174729166G>A	1000Genomes,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Met129Thr	RCV000246108	missense variant	-	NC_000005.10:g.174729165T>C	ClinVar
MSX2	P35548	p.Pro131Arg	rs765584496	missense variant	-	NC_000005.10:g.174729171C>G	ExAC
MSX2	P35548	p.Pro131Ser	rs1435145956	missense variant	-	NC_000005.10:g.174729170C>T	gnomAD
MSX2	P35548	p.Thr135Asn	rs1314483278	missense variant	-	NC_000005.10:g.174729183C>A	TOPMed,gnomAD
MSX2	P35548	p.Arg137Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.174729189G>A	NCI-TCGA
MSX2	P35548	p.Arg137Met	COSM737675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.174729189G>T	NCI-TCGA Cosmic
MSX2	P35548	p.Lys140Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.174729199G>C	NCI-TCGA
MSX2	P35548	p.Asn142Ser	rs762595550	missense variant	-	NC_000005.10:g.174729204A>G	ExAC,gnomAD
MSX2	P35548	p.Arg143Gln	rs751060486	missense variant	-	NC_000005.10:g.174729207G>A	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Arg143Trp	rs1216385486	missense variant	-	NC_000005.10:g.174729206C>T	TOPMed,gnomAD
MSX2	P35548	p.Pro145Leu	rs754536048	missense variant	-	NC_000005.10:g.174729213C>T	ExAC,gnomAD
MSX2	P35548	p.Arg146Cys	rs756030049	missense variant	-	NC_000005.10:g.174729215C>T	ExAC,gnomAD
MSX2	P35548	p.Arg146His	rs1201449653	missense variant	-	NC_000005.10:g.174729216G>A	TOPMed
MSX2	P35548	p.Thr147Met	rs1484486574	missense variant	-	NC_000005.10:g.174729219C>T	gnomAD
MSX2	P35548	p.Pro148Leu	rs104893895	missense variant	Craniosynostosis 2 (CRS2)	NC_000005.10:g.174729222C>T	UniProt,dbSNP
MSX2	P35548	p.Pro148Leu	VAR_071634	missense variant	Craniosynostosis 2 (CRS2)	NC_000005.10:g.174729222C>T	UniProt
MSX2	P35548	p.Pro148Leu	rs104893895	missense variant	-	NC_000005.10:g.174729222C>T	-
MSX2	P35548	p.Pro148His	rs104893895	missense variant	Craniosynostosis 2 (CRS2)	NC_000005.10:g.174729222C>A	UniProt,dbSNP
MSX2	P35548	p.Pro148His	VAR_003755	missense variant	Craniosynostosis 2 (CRS2)	NC_000005.10:g.174729222C>A	UniProt
MSX2	P35548	p.Pro148His	rs104893895	missense variant	-	NC_000005.10:g.174729222C>A	-
MSX2	P35548	p.Pro148His	RCV000018474	missense variant	Craniosynostosis 2 (CRS2)	NC_000005.10:g.174729222C>A	ClinVar
MSX2	P35548	p.Pro148Leu	RCV000690192	missense variant	Enlarged parietal foramina	NC_000005.10:g.174729222C>T	ClinVar
MSX2	P35548	p.Phe149Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.174729226T>G	NCI-TCGA
MSX2	P35548	p.Thr151Ala	rs1055665549	missense variant	-	NC_000005.10:g.174729230A>G	TOPMed,gnomAD
MSX2	P35548	p.Ser152Phe	rs780471460	missense variant	-	NC_000005.10:g.174729234C>T	ExAC,gnomAD
MSX2	P35548	p.Leu154Pro	VAR_010786	Missense	Parietal foramina 1 (PFM1) [MIM:168500]	-	UniProt
MSX2	P35548	p.Ala156Thr	rs747053672	missense variant	-	NC_000005.10:g.174729245G>A	ExAC,gnomAD
MSX2	P35548	p.Arg159His	rs776872613	missense variant	-	NC_000005.10:g.174729255G>A	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Arg159Cys	rs773491812	missense variant	-	NC_000005.10:g.174729254C>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Arg159Leu	rs776872613	missense variant	-	NC_000005.10:g.174729255G>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Arg159_Lys160del	VAR_010200	inframe_deletion	Parietal foramina 1 (PFM1) [MIM:168500]	-	UniProt
MSX2	P35548	p.Lys160Thr	rs770204721	missense variant	-	NC_000005.10:g.174729258A>C	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Lys160Arg	rs770204721	missense variant	-	NC_000005.10:g.174729258A>G	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Phe161Tyr	rs200519800	missense variant	-	NC_000005.10:g.174729261T>A	1000Genomes,ExAC,gnomAD
MSX2	P35548	p.Arg162His	rs766037353	missense variant	-	NC_000005.10:g.174729264G>A	ExAC,gnomAD
MSX2	P35548	p.Arg162Cys	rs555293970	missense variant	-	NC_000005.10:g.174729263C>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Gln163Ter	COSM449345	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.174729266C>T	NCI-TCGA Cosmic
MSX2	P35548	p.Gln165Leu	rs759220876	missense variant	-	NC_000005.10:g.174729273A>T	ExAC,gnomAD
MSX2	P35548	p.Gln165Arg	rs759220876	missense variant	-	NC_000005.10:g.174729273A>G	ExAC,gnomAD
MSX2	P35548	p.Tyr166Asn	COSM1328902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.174729275T>A	NCI-TCGA Cosmic
MSX2	P35548	p.Tyr166His	COSM1065941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.174729275T>C	NCI-TCGA Cosmic
MSX2	P35548	p.Ser168Phe	rs756013230	missense variant	-	NC_000005.10:g.174729282C>T	ExAC,gnomAD
MSX2	P35548	p.Ser168Ala	rs1346104549	missense variant	-	NC_000005.10:g.174729281T>G	gnomAD
MSX2	P35548	p.Ala170Thr	rs1428948082	missense variant	-	NC_000005.10:g.174729287G>A	TOPMed,gnomAD
MSX2	P35548	p.Ala170Ter	RCV000018480	frameshift	Parietal foramina with cleidocranial dysplasia (PFMCCD)	NC_000005.10:g.174729284_174729287dup	ClinVar
MSX2	P35548	p.Glu171Asp	rs1169833296	missense variant	-	NC_000005.10:g.174729292G>T	TOPMed
MSX2	P35548	p.Arg172His	rs104893896	missense variant	-	NC_000005.10:g.174729294G>A	ExAC,gnomAD
MSX2	P35548	p.Arg172His	rs104893896	missense variant	Parietal foramina 1 (PFM1)	NC_000005.10:g.174729294G>A	UniProt,dbSNP
MSX2	P35548	p.Arg172His	VAR_010201	missense variant	Parietal foramina 1 (PFM1)	NC_000005.10:g.174729294G>A	UniProt
MSX2	P35548	p.Arg172Cys	rs764005351	missense variant	-	NC_000005.10:g.174729293C>T	ExAC,gnomAD
MSX2	P35548	p.Arg172Gly	rs764005351	missense variant	-	NC_000005.10:g.174729293C>G	ExAC,gnomAD
MSX2	P35548	p.Arg172His	RCV000018476	missense variant	Parietal foramina 1 (PFM1)	NC_000005.10:g.174729294G>A	ClinVar
MSX2	P35548	p.Arg172Gly	RCV000585463	missense variant	-	NC_000005.10:g.174729293C>G	ClinVar
MSX2	P35548	p.Ala173Thr	rs1444546648	missense variant	-	NC_000005.10:g.174729296G>A	TOPMed
MSX2	P35548	p.Glu174Ter	rs757042034	stop gained	-	NC_000005.10:g.174729299G>T	ExAC,gnomAD
MSX2	P35548	p.Ser176Pro	rs1185740908	missense variant	-	NC_000005.10:g.174729305T>C	TOPMed
MSX2	P35548	p.Asn180Ser	rs1195373061	missense variant	-	NC_000005.10:g.174729318A>G	TOPMed,gnomAD
MSX2	P35548	p.Thr182Ala	rs1453621117	missense variant	-	NC_000005.10:g.174729323A>G	gnomAD
MSX2	P35548	p.Glu183Ter	RCV000018481	frameshift	Parietal foramina 1 (PFM1)	NC_000005.10:g.174729327_174729334del	ClinVar
MSX2	P35548	p.Gln185His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.174729334G>T	NCI-TCGA
MSX2	P35548	p.Ile188SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.174729338A>-	NCI-TCGA
MSX2	P35548	p.Phe190Leu	rs781352134	missense variant	-	NC_000005.10:g.174729349C>G	ExAC,gnomAD
MSX2	P35548	p.Arg193Ter	rs1203256966	stop gained	-	NC_000005.10:g.174729356C>T	TOPMed
MSX2	P35548	p.Arg194Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.174729360G>C	NCI-TCGA
MSX2	P35548	p.Ala195Gly	rs1387945571	missense variant	-	NC_000005.10:g.174729363C>G	gnomAD
MSX2	P35548	p.Lys196Arg	rs1328572937	missense variant	-	NC_000005.10:g.174729366A>G	gnomAD
MSX2	P35548	p.Ala197Val	rs770317741	missense variant	-	NC_000005.10:g.174729369C>T	ExAC,gnomAD
MSX2	P35548	p.Ala197Glu	rs770317741	missense variant	-	NC_000005.10:g.174729369C>A	ExAC,gnomAD
MSX2	P35548	p.Arg199Ile	rs199732800	missense variant	-	NC_000005.10:g.174729375G>T	1000Genomes
MSX2	P35548	p.Leu200Pro	rs1410308159	missense variant	-	NC_000005.10:g.174729378T>C	gnomAD
MSX2	P35548	p.Gln201Arg	rs1375081991	missense variant	-	NC_000005.10:g.174729381A>G	gnomAD
MSX2	P35548	p.Glu202Gln	rs182690432	missense variant	-	NC_000005.10:g.174729383G>C	1000Genomes,ExAC,gnomAD
MSX2	P35548	p.Leu205Val	rs111542301	missense variant	-	NC_000005.10:g.174729392C>G	TOPMed,gnomAD
MSX2	P35548	p.Met210Ile	rs759131123	missense variant	-	NC_000005.10:g.174729409G>A	ExAC,gnomAD
MSX2	P35548	p.Ala211Gly	rs767161367	missense variant	-	NC_000005.10:g.174729411C>G	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Ala212Gly	rs775062909	missense variant	-	NC_000005.10:g.174729414C>G	ExAC,gnomAD
MSX2	P35548	p.Ala212Thr	rs1467969048	missense variant	-	NC_000005.10:g.174729413G>A	TOPMed,gnomAD
MSX2	P35548	p.Ala212Ser	rs1467969048	missense variant	-	NC_000005.10:g.174729413G>T	TOPMed,gnomAD
MSX2	P35548	p.Ala212Gly	RCV000276654	missense variant	-	NC_000005.10:g.174729414C>G	ClinVar
MSX2	P35548	p.Ala212Val	COSM3853797	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.174729414C>T	NCI-TCGA Cosmic
MSX2	P35548	p.Ala212Gly	RCV000389679	missense variant	Enlarged parietal foramina	NC_000005.10:g.174729414C>G	ClinVar
MSX2	P35548	p.Pro214Leu	rs1234326556	missense variant	-	NC_000005.10:g.174729420C>T	TOPMed,gnomAD
MSX2	P35548	p.Met215Leu	rs577629417	missense variant	-	NC_000005.10:g.174729422A>T	1000Genomes,TOPMed,gnomAD
MSX2	P35548	p.Met215Ile	rs1297854733	missense variant	-	NC_000005.10:g.174729424G>T	TOPMed
MSX2	P35548	p.Met215Val	rs577629417	missense variant	-	NC_000005.10:g.174729422A>G	1000Genomes,TOPMed,gnomAD
MSX2	P35548	p.Pro217His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.174729429C>A	NCI-TCGA
MSX2	P35548	p.Pro217Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.174729428C>G	NCI-TCGA
MSX2	P35548	p.Ser218Phe	rs760162567	missense variant	-	NC_000005.10:g.174729432C>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Phe220Ser	COSM1065942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.174729438T>C	NCI-TCGA Cosmic
MSX2	P35548	p.Ser221Gly	rs753676458	missense variant	-	NC_000005.10:g.174729440A>G	ExAC,gnomAD
MSX2	P35548	p.Pro225Leu	rs1392988082	missense variant	-	NC_000005.10:g.174729453C>T	gnomAD
MSX2	P35548	p.Ile226Val	rs757239934	missense variant	-	NC_000005.10:g.174729455A>G	ExAC,gnomAD
MSX2	P35548	p.Ser227Thr	rs1330007091	missense variant	-	NC_000005.10:g.174729459G>C	gnomAD
MSX2	P35548	p.Ser228Leu	rs373857075	missense variant	-	NC_000005.10:g.174729462C>T	ESP,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Pro229His	rs1287374727	missense variant	-	NC_000005.10:g.174729465C>A	gnomAD
MSX2	P35548	p.Pro229Leu	rs1287374727	missense variant	-	NC_000005.10:g.174729465C>T	gnomAD
MSX2	P35548	p.Gln231His	rs755243046	missense variant	-	NC_000005.10:g.174729472G>C	ExAC,gnomAD
MSX2	P35548	p.Ala232Thr	rs781619692	missense variant	-	NC_000005.10:g.174729473G>A	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Ala232Val	rs1165916964	missense variant	-	NC_000005.10:g.174729474C>T	TOPMed
MSX2	P35548	p.Ala233Val	rs138053303	missense variant	-	NC_000005.10:g.174729477C>T	ESP,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Ala233Val	RCV000644909	missense variant	Enlarged parietal foramina	NC_000005.10:g.174729477C>T	ClinVar
MSX2	P35548	p.Tyr236Cys	rs1196261944	missense variant	-	NC_000005.10:g.174729486A>G	gnomAD
MSX2	P35548	p.Gly237Glu	rs777944422	missense variant	-	NC_000005.10:g.174729489G>A	ExAC,gnomAD
MSX2	P35548	p.Ala238Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.174729491G>T	NCI-TCGA
MSX2	P35548	p.Ala238Thr	rs1435910539	missense variant	-	NC_000005.10:g.174729491G>A	gnomAD
MSX2	P35548	p.Ser239Phe	rs1176289041	missense variant	-	NC_000005.10:g.174729495C>T	TOPMed
MSX2	P35548	p.Pro241Leu	rs368570722	missense variant	-	NC_000005.10:g.174729501C>T	ESP,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Phe242Leu	rs371825159	missense variant	-	NC_000005.10:g.174729505C>A	ESP,ExAC,gnomAD
MSX2	P35548	p.His243Pro	rs1415719648	missense variant	-	NC_000005.10:g.174729507A>C	gnomAD
MSX2	P35548	p.Arg244Ile	COSM1065943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.174729510G>T	NCI-TCGA Cosmic
MSX2	P35548	p.Val246Leu	rs771700671	missense variant	-	NC_000005.10:g.174729515G>C	ExAC,gnomAD
MSX2	P35548	p.Leu247Pro	rs775044825	missense variant	-	NC_000005.10:g.174729519T>C	ExAC,gnomAD
MSX2	P35548	p.Pro250Leu	rs374244313	missense variant	-	NC_000005.10:g.174729528C>T	ESP,gnomAD
MSX2	P35548	p.Pro250Ala	rs1422233314	missense variant	-	NC_000005.10:g.174729527C>G	gnomAD
MSX2	P35548	p.Pro251Ser	rs776218196	missense variant	-	NC_000005.10:g.174729530C>T	ExAC,gnomAD
MSX2	P35548	p.Val252AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.174729533_174729534insA	NCI-TCGA
MSX2	P35548	p.Gly253Arg	rs1339319232	missense variant	-	NC_000005.10:g.174729536G>A	gnomAD
MSX2	P35548	p.Leu254Pro	rs750227762	missense variant	-	NC_000005.10:g.174729540T>C	ExAC,gnomAD
MSX2	P35548	p.Tyr255Cys	rs1227466459	missense variant	-	NC_000005.10:g.174729543A>G	gnomAD
MSX2	P35548	p.Thr257Met	rs752824647	missense variant	-	NC_000005.10:g.174729549C>T	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Thr257Ala	rs767820021	missense variant	-	NC_000005.10:g.174729548A>G	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Pro258Leu	COSM3776533	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.174729552C>T	NCI-TCGA Cosmic
MSX2	P35548	p.Gly260Val	rs528373280	missense variant	-	NC_000005.10:g.174729558G>T	1000Genomes,ExAC,gnomAD
MSX2	P35548	p.Gly260Glu	rs528373280	missense variant	-	NC_000005.10:g.174729558G>A	1000Genomes,ExAC,gnomAD
MSX2	P35548	p.Tyr261Cys	rs1441956714	missense variant	-	NC_000005.10:g.174729561A>G	gnomAD
MSX2	P35548	p.Met263Val	rs1193987566	missense variant	-	NC_000005.10:g.174729566A>G	gnomAD
MSX2	P35548	p.Met263Ile	rs199856192	missense variant	-	NC_000005.10:g.174729568G>A	1000Genomes,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Met263Arg	rs757757709	missense variant	-	NC_000005.10:g.174729567T>G	ExAC,TOPMed,gnomAD
MSX2	P35548	p.Met263Ile	rs199856192	missense variant	-	NC_000005.10:g.174729568G>T	1000Genomes,ExAC,TOPMed,gnomAD
MSX2	P35548	p.Tyr264Cys	rs1168359833	missense variant	-	NC_000005.10:g.174729570A>G	gnomAD
MYH9	P35579	p.Gln3Glu	rs56200894	missense variant	-	NC_000022.11:g.36349230G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln3Glu	RCV000298717	missense variant	MYH9-related disorder	NC_000022.11:g.36349230G>C	ClinVar
MYH9	P35579	p.Gln3Lys	rs56200894	missense variant	-	NC_000022.11:g.36349230G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln3Glu	RCV000369754	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36349230G>C	ClinVar
MYH9	P35579	p.Gln4Arg	rs773960235	missense variant	-	NC_000022.11:g.36349226T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln4Arg	RCV000613702	missense variant	-	NC_000022.11:g.36349226T>C	ClinVar
MYH9	P35579	p.Asp7Asn	rs762745890	missense variant	-	NC_000022.11:g.36349218C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Asp7Gly	rs376417391	missense variant	-	NC_000022.11:g.36349217T>C	ESP,TOPMed
MYH9	P35579	p.Asp7Asn	rs762745890	missense variant	-	NC_000022.11:g.36349218C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp7Tyr	rs762745890	missense variant	-	NC_000022.11:g.36349218C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Tyr9His	rs1396960700	missense variant	-	NC_000022.11:g.36349212A>G	NCI-TCGA Cosmic
MYH9	P35579	p.Tyr9His	rs1396960700	missense variant	-	NC_000022.11:g.36349212A>G	TOPMed
MYH9	P35579	p.Leu10Val	COSM1308129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36349209G>C	NCI-TCGA Cosmic
MYH9	P35579	p.Tyr11Ter	RCV000585195	frameshift	-	NC_000022.11:g.36349205_36349206del	ClinVar
MYH9	P35579	p.Tyr11Cys	RCV000613271	missense variant	-	NC_000022.11:g.36349205T>C	ClinVar
MYH9	P35579	p.Tyr11Cys	rs201415443	missense variant	-	NC_000022.11:g.36349205T>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val12Leu	rs745587751	missense variant	-	NC_000022.11:g.36349203C>G	ExAC,gnomAD
MYH9	P35579	p.Asp13Ala	rs1409179671	missense variant	-	NC_000022.11:g.36349199T>G	TOPMed
MYH9	P35579	p.Asp13Tyr	rs776649398	missense variant	-	NC_000022.11:g.36349200C>A	ExAC,gnomAD
MYH9	P35579	p.Asp13Asn	rs776649398	missense variant	-	NC_000022.11:g.36349200C>T	ExAC,gnomAD
MYH9	P35579	p.Lys14Arg	rs770811497	missense variant	-	NC_000022.11:g.36349196T>C	ExAC,gnomAD
MYH9	P35579	p.Asn15Asp	rs1478280355	missense variant	-	NC_000022.11:g.36349194T>C	gnomAD
MYH9	P35579	p.Phe16Leu	rs1268363545	missense variant	-	NC_000022.11:g.36349189G>C	gnomAD
MYH9	P35579	p.Ile17Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36349187A>G	NCI-TCGA
MYH9	P35579	p.Asn18Lys	rs748468366	missense variant	-	NC_000022.11:g.36349183G>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn18Asp	rs746915345	missense variant	-	NC_000022.11:g.36349185T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn18Lys	rs748468366	missense variant	-	NC_000022.11:g.36349183G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn18Ser	rs568919566	missense variant	-	NC_000022.11:g.36349184T>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn19Asp	rs1195771824	missense variant	-	NC_000022.11:g.36349182T>C	TOPMed,gnomAD
MYH9	P35579	p.Pro20Leu	rs755382917	missense variant	-	NC_000022.11:g.36349178G>A	ExAC,gnomAD
MYH9	P35579	p.Asp25Glu	rs1350004821	missense variant	-	NC_000022.11:g.36349162G>C	TOPMed,gnomAD
MYH9	P35579	p.Asp25Asn	rs750944944	missense variant	-	NC_000022.11:g.36349164C>T	ExAC,gnomAD
MYH9	P35579	p.Ala27Pro	rs763757101	missense variant	-	NC_000022.11:g.36349158C>G	ExAC,gnomAD
MYH9	P35579	p.Ala28Ser	rs1408199233	missense variant	-	NC_000022.11:g.36349155C>A	gnomAD
MYH9	P35579	p.Trp33Ter	COSM4833534	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36349139C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Pro35Leu	rs375000039	missense variant	-	NC_000022.11:g.36349133G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp37His	COSM3800180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36349128C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Asp37Asn	rs1428883091	missense variant	-	NC_000022.11:g.36349128C>T	gnomAD
MYH9	P35579	p.Ser39Arg	rs1189741384	missense variant	-	NC_000022.11:g.36349120A>C	TOPMed,gnomAD
MYH9	P35579	p.Phe41Ser	RCV000790339	missense variant	MYH9-related disorder	NC_000022.11:g.36349115A>G	ClinVar
MYH9	P35579	p.Phe41Ser	RCV000424167	missense variant	-	NC_000022.11:g.36349115A>G	ClinVar
MYH9	P35579	p.Phe41Ser	rs1057520107	missense variant	-	NC_000022.11:g.36349115A>G	-
MYH9	P35579	p.Ala44Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36349107C>T	NCI-TCGA
MYH9	P35579	p.Ala44Gly	rs1479109063	missense variant	-	NC_000022.11:g.36349106G>C	gnomAD
MYH9	P35579	p.Ser45Asn	rs770688464	missense variant	-	NC_000022.11:g.36349103C>T	ExAC,gnomAD
MYH9	P35579	p.Leu46Phe	rs147122501	missense variant	-	NC_000022.11:g.36349101G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu46Phe	RCV000509473	missense variant	Macular dystrophy, atypical vitelliform (VMD1)	NC_000022.11:g.36349101G>A	ClinVar
MYH9	P35579	p.Lys47Arg	rs772142110	missense variant	-	NC_000022.11:g.36349097T>C	ExAC
MYH9	P35579	p.Val50Met	rs1276910148	missense variant	-	NC_000022.11:g.36349089C>T	gnomAD
MYH9	P35579	p.Glu52Gly	rs755115939	missense variant	-	NC_000022.11:g.36349082T>C	ExAC,gnomAD
MYH9	P35579	p.Glu52Lys	rs779218645	missense variant	-	NC_000022.11:g.36349083C>T	ExAC,gnomAD
MYH9	P35579	p.Glu53Ala	rs546497514	missense variant	-	NC_000022.11:g.36349079T>G	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val56Met	rs563932558	missense variant	-	NC_000022.11:g.36349071C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val56Leu	rs563932558	missense variant	-	NC_000022.11:g.36349071C>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu57Val	RCV000612887	missense variant	-	NC_000022.11:g.36349067T>A	ClinVar
MYH9	P35579	p.Glu57Val	rs751041617	missense variant	-	NC_000022.11:g.36349067T>A	ExAC,gnomAD
MYH9	P35579	p.Leu58Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36349064A>G	NCI-TCGA
MYH9	P35579	p.Val59Ala	COSM1416067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36349061A>G	NCI-TCGA Cosmic
MYH9	P35579	p.Lys63Arg	rs1426062541	missense variant	-	NC_000022.11:g.36349049T>C	gnomAD
MYH9	P35579	p.Lys64Arg	rs1158070467	missense variant	-	NC_000022.11:g.36349046T>C	TOPMed,gnomAD
MYH9	P35579	p.Val65Met	RCV000765636	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36349044C>T	ClinVar
MYH9	P35579	p.Val65Met	RCV000610555	missense variant	-	NC_000022.11:g.36349044C>T	ClinVar
MYH9	P35579	p.Val65Met	rs377348805	missense variant	-	NC_000022.11:g.36349044C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val65Leu	rs377348805	missense variant	-	NC_000022.11:g.36349044C>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys69Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36349030C>A	NCI-TCGA
MYH9	P35579	p.Asp70Asn	rs929085586	missense variant	-	NC_000022.11:g.36349029C>T	TOPMed
MYH9	P35579	p.Asp70Ala	rs764768999	missense variant	-	NC_000022.11:g.36349028T>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln73Arg	rs759156685	missense variant	-	NC_000022.11:g.36349019T>C	ExAC,gnomAD
MYH9	P35579	p.Pro78Leu	RCV000378918	missense variant	MYH9-related disorder	NC_000022.11:g.36349004G>A	ClinVar
MYH9	P35579	p.Pro78Leu	rs150313549	missense variant	-	NC_000022.11:g.36349004G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Pro78Leu	RCV000345258	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36349004G>A	ClinVar
MYH9	P35579	p.Lys82GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36348916_36348994TGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTG>-	NCI-TCGA
MYH9	P35579	p.Glu84Gln	rs771947799	missense variant	-	NC_000022.11:g.36348987C>G	ExAC,gnomAD
MYH9	P35579	p.Met86Thr	rs774334908	missense variant	-	NC_000022.11:g.36348980A>G	ExAC,gnomAD
MYH9	P35579	p.Ala87Ser	rs1451904073	missense variant	-	NC_000022.11:g.36348978C>A	gnomAD
MYH9	P35579	p.Glu88Val	rs749533216	missense variant	-	NC_000022.11:g.36348974T>A	ExAC,gnomAD
MYH9	P35579	p.Glu88Ala	rs749533216	missense variant	-	NC_000022.11:g.36348974T>G	ExAC,gnomAD
MYH9	P35579	p.Cys91Tyr	COSM1416066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36348965C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Leu92Val	COSM444941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36348963G>C	NCI-TCGA Cosmic
MYH9	P35579	p.Asn93Lys	RCV000790350	missense variant	MYH9-related disorder	NC_000022.11:g.36348958G>C	ClinVar
MYH9	P35579	p.Asn93Lys	RCV000015122	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348958G>C	ClinVar
MYH9	P35579	p.Asn93Ser	rs1359996610	missense variant	-	NC_000022.11:g.36348959T>C	gnomAD
MYH9	P35579	p.Asn93Lys	rs121913655	missense variant	-	NC_000022.11:g.36348958G>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn93Lys	rs121913655	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348958G>C	UniProt,dbSNP
MYH9	P35579	p.Asn93Lys	VAR_010791	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348958G>C	UniProt
MYH9	P35579	p.Glu94Lys	COSM4103838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36348957C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Ala95Thr	VAR_018308	Missense	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]	-	UniProt
MYH9	P35579	p.Ser96Leu	RCV000790352	missense variant	MYH9-related disorder	NC_000022.11:g.36348950G>A	ClinVar
MYH9	P35579	p.Ser96Leu	RCV000477821	missense variant	Deafness, autosomal dominant nonsyndromic sensorineural 17 (DFNA17)	NC_000022.11:g.36348950G>A	ClinVar
MYH9	P35579	p.Ser96Leu	rs121913657	missense variant	-	NC_000022.11:g.36348950G>A	-
MYH9	P35579	p.Ser96Leu	rs121913657	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348950G>A	UniProt,dbSNP
MYH9	P35579	p.Ser96Leu	VAR_018309	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348950G>A	UniProt
MYH9	P35579	p.Ser96Leu	RCV000015138	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348950G>A	ClinVar
MYH9	P35579	p.Val97Leu	rs781771309	missense variant	-	NC_000022.11:g.36348948C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val97Leu	rs781771309	missense variant	-	NC_000022.11:g.36348948C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn100Thr	rs920764409	missense variant	-	NC_000022.11:g.36348938T>G	TOPMed
MYH9	P35579	p.Lys102Arg	rs757740573	missense variant	-	NC_000022.11:g.36348932T>C	ExAC,gnomAD
MYH9	P35579	p.Arg104His	rs778342329	missense variant	-	NC_000022.11:g.36348926C>T	ExAC,gnomAD
MYH9	P35579	p.Arg104Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36348927G>A	NCI-TCGA
MYH9	P35579	p.Ser107Ter	COSM4833546	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36348917G>C	NCI-TCGA Cosmic
MYH9	P35579	p.Leu109Phe	rs1241867025	missense variant	-	NC_000022.11:g.36348912G>A	gnomAD
MYH9	P35579	p.Ile110Leu	rs750178366	missense variant	-	NC_000022.11:g.36348909T>G	ExAC,gnomAD
MYH9	P35579	p.Tyr113Cys	rs747387786	missense variant	-	NC_000022.11:g.36341522T>C	ExAC,gnomAD
MYH9	P35579	p.Cys118Tyr	rs1423923026	missense variant	-	NC_000022.11:g.36341507C>T	TOPMed,gnomAD
MYH9	P35579	p.Val119Ala	rs1250904991	missense variant	-	NC_000022.11:g.36341504A>G	TOPMed
MYH9	P35579	p.Val119Leu	rs1197773737	missense variant	-	NC_000022.11:g.36341505C>G	gnomAD
MYH9	P35579	p.Ile129Val	rs748614086	missense variant	-	NC_000022.11:g.36341475T>C	ExAC,gnomAD
MYH9	P35579	p.Ser131Thr	rs1427950733	missense variant	-	NC_000022.11:g.36341469A>T	gnomAD
MYH9	P35579	p.Gly140Ser	rs779562117	missense variant	-	NC_000022.11:g.36341442C>T	ExAC,gnomAD
MYH9	P35579	p.Lys141Arg	rs1318401504	missense variant	-	NC_000022.11:g.36341438T>C	gnomAD
MYH9	P35579	p.Lys141Asn	rs745522193	missense variant	-	NC_000022.11:g.36341437C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg143Lys	rs780891211	missense variant	-	NC_000022.11:g.36341432C>T	ExAC,gnomAD
MYH9	P35579	p.Glu145Asp	COSM726441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36341425C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Glu145Lys	rs751343355	missense variant	-	NC_000022.11:g.36341427C>T	ExAC
MYH9	P35579	p.Glu145Asp	rs1457631648	missense variant	-	NC_000022.11:g.36341425C>A	TOPMed
MYH9	P35579	p.Met146Lys	rs727503294	missense variant	-	NC_000022.11:g.36341423A>T	-
MYH9	P35579	p.Met146Lys	RCV000151358	missense variant	-	NC_000022.11:g.36341423A>T	ClinVar
MYH9	P35579	p.Pro147Leu	COSM3553960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36341420G>A	NCI-TCGA Cosmic
MYH9	P35579	p.His149Asp	COSM580097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36341415G>C	NCI-TCGA Cosmic
MYH9	P35579	p.His149SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36341416_36341417insG	NCI-TCGA
MYH9	P35579	p.Ile150Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36341412T>A	NCI-TCGA
MYH9	P35579	p.Tyr151Phe	rs1376851882	missense variant	-	NC_000022.11:g.36341408T>A	gnomAD
MYH9	P35579	p.Ala152Val	rs758437344	missense variant	-	NC_000022.11:g.36341405G>A	ExAC,gnomAD
MYH9	P35579	p.Thr156Ser	RCV000502575	missense variant	-	NC_000022.11:g.36341393G>C	ClinVar
MYH9	P35579	p.Thr156Ser	rs931698088	missense variant	-	NC_000022.11:g.36341393G>C	TOPMed
MYH9	P35579	p.Ala157Gly	rs765414835	missense variant	-	NC_000022.11:g.36341390G>C	ExAC,gnomAD
MYH9	P35579	p.Ala157Thr	rs1401567846	missense variant	-	NC_000022.11:g.36341391C>T	gnomAD
MYH9	P35579	p.Ala157Val	rs765414835	missense variant	-	NC_000022.11:g.36341390G>A	ExAC,gnomAD
MYH9	P35579	p.Met162Leu	rs1378936782	missense variant	-	NC_000022.11:g.36341376T>A	gnomAD
MYH9	P35579	p.Arg165Gln	rs576081279	missense variant	-	NC_000022.11:g.36327485C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Asp167Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36327479T>A	NCI-TCGA
MYH9	P35579	p.Gln168His	rs760974197	missense variant	-	NC_000022.11:g.36327475T>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln168Lys	rs1488079328	missense variant	-	NC_000022.11:g.36327477G>T	gnomAD
MYH9	P35579	p.Ile170Val	rs376494037	missense variant	-	NC_000022.11:g.36327471T>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile170Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36327471T>A	NCI-TCGA
MYH9	P35579	p.Cys172Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36327464C>T	NCI-TCGA
MYH9	P35579	p.Cys172LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36327464_36327465insA	NCI-TCGA
MYH9	P35579	p.Gly179Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36326644C>T	NCI-TCGA
MYH9	P35579	p.Asn183Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36326632T>C	NCI-TCGA
MYH9	P35579	p.Tyr190Cys	rs1425138671	missense variant	-	NC_000022.11:g.36326611T>C	TOPMed
MYH9	P35579	p.Ala192Val	rs1330043219	missense variant	-	NC_000022.11:g.36326605G>A	TOPMed,gnomAD
MYH9	P35579	p.Val194Leu	rs773050248	missense variant	-	NC_000022.11:g.36326600C>G	ExAC,gnomAD
MYH9	P35579	p.Val194Met	rs773050248	missense variant	-	NC_000022.11:g.36326600C>T	ExAC,gnomAD
MYH9	P35579	p.Ala195Val	COSM1416065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36326596G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ser197Leu	rs747764327	missense variant	-	NC_000022.11:g.36326590G>A	ExAC,gnomAD
MYH9	P35579	p.His198Tyr	rs1408955749	missense variant	-	NC_000022.11:g.36326588G>A	TOPMed
MYH9	P35579	p.Lys202Asn	rs768277556	missense variant	-	NC_000022.11:g.36326574C>G	ExAC,gnomAD
MYH9	P35579	p.Gly205Asp	rs1398352381	missense variant	-	NC_000022.11:g.36322520C>T	gnomAD
MYH9	P35579	p.Glu206Lys	rs748355717	missense variant	-	NC_000022.11:g.36322518C>T	ExAC,gnomAD
MYH9	P35579	p.Leu207Val	rs779158750	missense variant	-	NC_000022.11:g.36322515G>C	ExAC,gnomAD
MYH9	P35579	p.Glu208Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36322512C>T	NCI-TCGA
MYH9	P35579	p.Arg209Gln	rs780693982	missense variant	-	NC_000022.11:g.36322508C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg209Leu	rs780693982	missense variant	-	NC_000022.11:g.36322508C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg209Trp	rs754461620	missense variant	-	NC_000022.11:g.36322509G>A	ExAC,gnomAD
MYH9	P35579	p.Leu211Arg	rs1168142434	missense variant	-	NC_000022.11:g.36322502A>C	gnomAD
MYH9	P35579	p.Leu211Val	rs751080870	missense variant	-	NC_000022.11:g.36322503G>C	ExAC,gnomAD
MYH9	P35579	p.Leu212Val	rs1378345210	missense variant	-	NC_000022.11:g.36322500G>C	TOPMed,gnomAD
MYH9	P35579	p.Gln213Ter	RCV000151354	nonsense	-	NC_000022.11:g.36322497G>A	ClinVar
MYH9	P35579	p.Gln213Ter	rs727503292	stop gained	-	NC_000022.11:g.36322497G>A	-
MYH9	P35579	p.Ala214Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36322493G>A	NCI-TCGA
MYH9	P35579	p.Asn215Ser	rs763616997	missense variant	-	NC_000022.11:g.36322490T>C	ExAC,gnomAD
MYH9	P35579	p.Ala220Thr	RCV000625590	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36322476C>T	ClinVar
MYH9	P35579	p.Ala220Thr	rs1556637683	missense variant	-	NC_000022.11:g.36322476C>T	-
MYH9	P35579	p.Ala220Val	rs1190062913	missense variant	-	NC_000022.11:g.36322475G>A	TOPMed,gnomAD
MYH9	P35579	p.Phe221Leu	rs375965637	missense variant	-	NC_000022.11:g.36322471G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys225Glu	rs759316855	missense variant	-	NC_000022.11:g.36322461T>C	ExAC,gnomAD
MYH9	P35579	p.Val227Met	RCV000414478	missense variant	-	NC_000022.11:g.36322455C>T	ClinVar
MYH9	P35579	p.Val227Met	rs760568093	missense variant	-	NC_000022.11:g.36322455C>T	ExAC,gnomAD
MYH9	P35579	p.Lys228Arg	rs772134801	missense variant	-	NC_000022.11:g.36322451T>C	ExAC,gnomAD
MYH9	P35579	p.Asp230Asn	rs1386247353	missense variant	-	NC_000022.11:g.36322446C>T	gnomAD
MYH9	P35579	p.Ser233Phe	COSM6161832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36322436G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Arg234His	COSM1033854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36322433C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Gly236Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36321820C>G	NCI-TCGA
MYH9	P35579	p.Ile239Leu	rs1312994728	missense variant	-	NC_000022.11:g.36321812T>G	gnomAD
MYH9	P35579	p.Arg240Cys	rs766168499	missense variant	-	NC_000022.11:g.36321809G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg240His	rs755933569	missense variant	-	NC_000022.11:g.36321808C>T	ExAC,gnomAD
MYH9	P35579	p.Ile241Asn	rs959415898	missense variant	-	NC_000022.11:g.36321805A>T	TOPMed,gnomAD
MYH9	P35579	p.Ile241Val	rs142891887	missense variant	-	NC_000022.11:g.36321806T>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile241Thr	rs959415898	missense variant	-	NC_000022.11:g.36321805A>G	TOPMed,gnomAD
MYH9	P35579	p.Asn242Ser	rs1185066318	missense variant	-	NC_000022.11:g.36321802T>C	gnomAD
MYH9	P35579	p.Asp244Asn	COSM4824815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36321797C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Asp244Gly	rs1474352622	missense variant	-	NC_000022.11:g.36321796T>C	gnomAD
MYH9	P35579	p.Asn246Ser	rs774602087	missense variant	-	NC_000022.11:g.36321790T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Tyr248Ter	rs371035780	stop gained	-	NC_000022.11:g.36321783G>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Tyr248Cys	rs1488026984	missense variant	-	NC_000022.11:g.36321784T>C	gnomAD
MYH9	P35579	p.Gly251Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36321775C>T	NCI-TCGA
MYH9	P35579	p.Asn253Ser	rs763278314	missense variant	-	NC_000022.11:g.36321769T>C	ExAC,gnomAD
MYH9	P35579	p.Ile254Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36321767T>C	NCI-TCGA
MYH9	P35579	p.Ile254Thr	rs1173355919	missense variant	-	NC_000022.11:g.36321766A>G	TOPMed
MYH9	P35579	p.Glu255Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36321764C>T	NCI-TCGA
MYH9	P35579	p.Thr256Ala	rs775785923	missense variant	-	NC_000022.11:g.36321761T>C	ExAC,gnomAD
MYH9	P35579	p.Leu258Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36320894G>T	NCI-TCGA
MYH9	P35579	p.Arg263Cys	COSM1714338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36320879G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ala264Val	rs1245854888	missense variant	-	NC_000022.11:g.36320875G>A	TOPMed,gnomAD
MYH9	P35579	p.Ala264Thr	rs1050634599	missense variant	-	NC_000022.11:g.36320876C>T	TOPMed,gnomAD
MYH9	P35579	p.Arg266Cys	rs1208877771	missense variant	-	NC_000022.11:g.36320870G>A	TOPMed
MYH9	P35579	p.Gln267SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36320847_36320868GGTCCGTTCTTCCTTGGCTTGG>-	NCI-TCGA
MYH9	P35579	p.Lys269Arg	rs1330357532	missense variant	-	NC_000022.11:g.36320860T>C	gnomAD
MYH9	P35579	p.Glu270Lys	rs759639480	missense variant	-	NC_000022.11:g.36320858C>T	ExAC,gnomAD
MYH9	P35579	p.Glu271Ter	COSM1033852	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36320855C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Arg272Gln	rs1169742196	missense variant	-	NC_000022.11:g.36320851C>T	gnomAD
MYH9	P35579	p.Arg272Gly	rs777079976	missense variant	-	NC_000022.11:g.36320852G>C	ExAC,gnomAD
MYH9	P35579	p.Tyr278Cys	RCV000156222	missense variant	-	NC_000022.11:g.36320833T>C	ClinVar
MYH9	P35579	p.Tyr278Cys	rs727504863	missense variant	-	NC_000022.11:g.36320833T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Tyr278Asp	rs533560353	missense variant	-	NC_000022.11:g.36320834A>C	1000Genomes,ExAC
MYH9	P35579	p.Leu280His	COSM3992136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36320827A>T	NCI-TCGA Cosmic
MYH9	P35579	p.Leu280Phe	rs773704266	missense variant	-	NC_000022.11:g.36320828G>A	ExAC,gnomAD
MYH9	P35579	p.Ser282Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36320821G>C	NCI-TCGA
MYH9	P35579	p.Gly285Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36320812C>T	NCI-TCGA
MYH9	P35579	p.Gly285Val	rs1188816913	missense variant	-	NC_000022.11:g.36320812C>A	TOPMed
MYH9	P35579	p.His287Tyr	RCV000151352	missense variant	-	NC_000022.11:g.36320807G>A	ClinVar
MYH9	P35579	p.His287Pro	rs768214654	missense variant	-	NC_000022.11:g.36320806T>G	ExAC,gnomAD
MYH9	P35579	p.His287Tyr	rs727503291	missense variant	-	NC_000022.11:g.36320807G>A	TOPMed
MYH9	P35579	p.Lys289Arg	rs1470212122	missense variant	-	NC_000022.11:g.36320800T>C	gnomAD
MYH9	P35579	p.Thr290Asn	rs1212353878	missense variant	-	NC_000022.11:g.36320363G>T	gnomAD
MYH9	P35579	p.Asp291Asn	rs371205546	missense variant	-	NC_000022.11:g.36320361C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu293Pro	rs1221969347	missense variant	-	NC_000022.11:g.36320354A>G	gnomAD
MYH9	P35579	p.Glu295Lys	rs1443226186	missense variant	-	NC_000022.11:g.36320349C>T	gnomAD
MYH9	P35579	p.Pro296Leu	rs559841300	missense variant	-	NC_000022.11:g.36320345G>A	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Tyr297His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36320343A>G	NCI-TCGA
MYH9	P35579	p.Tyr297Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36320341G>C	NCI-TCGA
MYH9	P35579	p.Asn298Lys	rs1165886425	missense variant	-	NC_000022.11:g.36320338G>T	TOPMed
MYH9	P35579	p.Tyr300Cys	rs752627937	missense variant	-	NC_000022.11:g.36320333T>C	ExAC,gnomAD
MYH9	P35579	p.Arg301His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36320330C>T	NCI-TCGA
MYH9	P35579	p.Phe302Leu	rs375657864	missense variant	-	NC_000022.11:g.36320326G>C	ESP,ExAC,gnomAD
MYH9	P35579	p.Asn305Lys	rs1410636847	missense variant	-	NC_000022.11:g.36320317A>C	gnomAD
MYH9	P35579	p.Asn305Ser	rs755009539	missense variant	-	NC_000022.11:g.36320318T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.His307Gln	rs766489467	missense variant	-	NC_000022.11:g.36320311G>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val308Ile	rs577429531	missense variant	-	NC_000022.11:g.36320310C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile310Val	RCV000217070	missense variant	-	NC_000022.11:g.36320304T>C	ClinVar
MYH9	P35579	p.Ile310Val	rs149789202	missense variant	-	NC_000022.11:g.36320304T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Pro311Ser	rs544183939	missense variant	-	NC_000022.11:g.36320301G>A	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Gly312Arg	rs369011405	missense variant	-	NC_000022.11:g.36320298C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln313SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36320299G>-	NCI-TCGA
MYH9	P35579	p.Asp317Gly	rs769409234	missense variant	-	NC_000022.11:g.36320282T>C	ExAC,gnomAD
MYH9	P35579	p.Met318Leu	rs758951998	missense variant	-	NC_000022.11:g.36320280T>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met318Val	rs758951998	missense variant	-	NC_000022.11:g.36320280T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met318Val	RCV000615696	missense variant	-	NC_000022.11:g.36320280T>C	ClinVar
MYH9	P35579	p.Gln320LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36320273_36320274insTGAGGTTGTGCAGCACCGA	NCI-TCGA
MYH9	P35579	p.Gln320Arg	rs1334470148	missense variant	-	NC_000022.11:g.36320273T>C	gnomAD
MYH9	P35579	p.Thr322Ala	rs1291719553	missense variant	-	NC_000022.11:g.36320268T>C	gnomAD
MYH9	P35579	p.Met323Thr	rs1364094810	missense variant	-	NC_000022.11:g.36320264A>G	TOPMed
MYH9	P35579	p.Glu324Gly	rs776391713	missense variant	-	NC_000022.11:g.36320261T>C	ExAC,gnomAD
MYH9	P35579	p.Arg327Trp	rs1288302731	missense variant	-	NC_000022.11:g.36320253T>A	gnomAD
MYH9	P35579	p.Gly330Cys	rs376652889	missense variant	-	NC_000022.11:g.36320244C>A	ESP,ExAC,gnomAD
MYH9	P35579	p.Gly330Ser	rs376652889	missense variant	-	NC_000022.11:g.36320244C>T	ESP,ExAC,gnomAD
MYH9	P35579	p.Ile331Val	rs139798339	missense variant	-	NC_000022.11:g.36320241T>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu334Asp	rs1461292054	missense variant	-	NC_000022.11:g.36320230C>G	gnomAD
MYH9	P35579	p.Gln336Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36320225T>C	NCI-TCGA
MYH9	P35579	p.Met337Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36320221C>T	NCI-TCGA
MYH9	P35579	p.Met337Thr	rs1416099595	missense variant	-	NC_000022.11:g.36320222A>G	gnomAD
MYH9	P35579	p.Leu339Met	rs369633699	missense variant	-	NC_000022.11:g.36319633G>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg341Trp	rs759123154	missense variant	-	NC_000022.11:g.36319627G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg341Gln	rs1300678332	missense variant	-	NC_000022.11:g.36319626C>T	TOPMed
MYH9	P35579	p.Val342Ile	rs1467075674	missense variant	-	NC_000022.11:g.36319624C>T	TOPMed,gnomAD
MYH9	P35579	p.Val342Phe	rs1467075674	missense variant	-	NC_000022.11:g.36319624C>A	TOPMed,gnomAD
MYH9	P35579	p.Leu347Phe	COSM4983993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36319609G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Leu347Val	rs1044816218	missense variant	-	NC_000022.11:g.36319609G>C	TOPMed
MYH9	P35579	p.Leu349Phe	rs765931557	missense variant	-	NC_000022.11:g.36319603G>A	ExAC,gnomAD
MYH9	P35579	p.Gly350Ser	rs1464752413	missense variant	-	NC_000022.11:g.36319600C>T	TOPMed
MYH9	P35579	p.Val353Ile	rs375702969	missense variant	-	NC_000022.11:g.36319591C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys355Arg	rs1489239596	missense variant	-	NC_000022.11:g.36319584T>C	TOPMed
MYH9	P35579	p.Lys356Arg	rs747874038	missense variant	-	NC_000022.11:g.36319581T>C	ExAC,gnomAD
MYH9	P35579	p.Gln362Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36319564G>A	NCI-TCGA
MYH9	P35579	p.Ala363Val	COSM1216263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36319560G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ala363Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36319561C>T	NCI-TCGA
MYH9	P35579	p.Pro366Ala	rs780120030	missense variant	-	NC_000022.11:g.36319552G>C	ExAC,gnomAD
MYH9	P35579	p.Pro366Ser	rs780120030	missense variant	-	NC_000022.11:g.36319552G>A	ExAC,gnomAD
MYH9	P35579	p.Asp367Asn	rs1354670070	missense variant	-	NC_000022.11:g.36319549C>T	gnomAD
MYH9	P35579	p.Asn368Ser	COSM1033849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36319545T>C	NCI-TCGA Cosmic
MYH9	P35579	p.Asn368Asp	rs746155138	missense variant	-	NC_000022.11:g.36319546T>C	ExAC,gnomAD
MYH9	P35579	p.Ala371Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36318322G>A	NCI-TCGA
MYH9	P35579	p.Lys373Asn	VAR_018310	Missense	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]	-	UniProt
MYH9	P35579	p.Leu377Phe	COSM3912721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36318305G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Gly379Val	rs753318371	missense variant	-	NC_000022.11:g.36318298C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gly379Asp	rs753318371	missense variant	-	NC_000022.11:g.36318298C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr383Ile	COSM3553958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36318286G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Asp384Asn	RCV000319014	missense variant	MYH9-related disorder	NC_000022.11:g.36318284C>T	ClinVar
MYH9	P35579	p.Asp384Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36318282A>C	NCI-TCGA
MYH9	P35579	p.Asp384Asn	rs767088377	missense variant	-	NC_000022.11:g.36318284C>T	ExAC,gnomAD
MYH9	P35579	p.Asp384Asn	RCV000375903	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36318284C>T	ClinVar
MYH9	P35579	p.Phe385Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36318280A>G	NCI-TCGA
MYH9	P35579	p.Phe385Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36318281A>C	NCI-TCGA
MYH9	P35579	p.Thr386Ser	rs761384179	missense variant	-	NC_000022.11:g.36318277G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr386Ile	rs761384179	missense variant	-	NC_000022.11:g.36318277G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg387Ser	rs1412531533	missense variant	-	NC_000022.11:g.36318273T>G	TOPMed,gnomAD
MYH9	P35579	p.Ile389Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36318268A>T	NCI-TCGA
MYH9	P35579	p.Thr391Ile	rs1312887570	missense variant	-	NC_000022.11:g.36318262G>A	gnomAD
MYH9	P35579	p.Pro392Ser	COSM4460643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36318260G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Arg393Cys	RCV000722213	missense variant	-	NC_000022.11:g.36318257G>A	ClinVar
MYH9	P35579	p.Arg393His	rs202023656	missense variant	-	NC_000022.11:g.36318256C>T	ExAC,gnomAD
MYH9	P35579	p.Arg393Cys	rs1156464508	missense variant	-	NC_000022.11:g.36318257G>A	TOPMed
MYH9	P35579	p.Gly397Ala	rs1454168105	missense variant	-	NC_000022.11:g.36318244C>G	TOPMed,gnomAD
MYH9	P35579	p.Arg398Trp	COSM4642639	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36318242G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Arg398Gln	rs759425387	missense variant	-	NC_000022.11:g.36318241C>T	ExAC,gnomAD
MYH9	P35579	p.Asp399Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36318238T>C	NCI-TCGA
MYH9	P35579	p.Val401Ile	rs369581570	missense variant	-	NC_000022.11:g.36318233C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys403Arg	rs747265281	missense variant	-	NC_000022.11:g.36318226T>C	ExAC,gnomAD
MYH9	P35579	p.Ala404Val	rs1482592893	missense variant	-	NC_000022.11:g.36318223G>A	TOPMed,gnomAD
MYH9	P35579	p.Ala410Val	rs746493683	missense variant	-	NC_000022.11:g.36316668G>A	ExAC,gnomAD
MYH9	P35579	p.Ile414Met	rs138436678	missense variant	-	NC_000022.11:g.36316655G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu415Lys	rs752286142	missense variant	-	NC_000022.11:g.36316654C>T	ExAC,gnomAD
MYH9	P35579	p.Ala418Val	rs972459144	missense variant	-	NC_000022.11:g.36316644G>A	gnomAD
MYH9	P35579	p.Ala420Ser	COSM1327245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36316639C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ala420Val	rs779646317	missense variant	-	NC_000022.11:g.36316638G>A	TOPMed
MYH9	P35579	p.Tyr422Cys	rs1223862358	missense variant	-	NC_000022.11:g.36316632T>C	TOPMed
MYH9	P35579	p.Glu423Lys	COSM4826825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36316630C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Arg424Gln	RCV000681823	missense variant	-	NC_000022.11:g.36316626C>T	ClinVar
MYH9	P35579	p.Arg424Gln	rs1321659356	missense variant	-	NC_000022.11:g.36316626C>T	TOPMed
MYH9	P35579	p.Met425Leu	rs961182177	missense variant	-	NC_000022.11:g.36316624T>A	TOPMed
MYH9	P35579	p.Arg427Cys	rs1247656863	missense variant	-	NC_000022.11:g.36316618G>A	TOPMed,gnomAD
MYH9	P35579	p.Arg427His	rs760489771	missense variant	-	NC_000022.11:g.36316617C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val430Gly	rs773366133	missense variant	-	NC_000022.11:g.36316608A>C	ExAC,gnomAD
MYH9	P35579	p.Leu431Val	rs767440614	missense variant	-	NC_000022.11:g.36316606G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg432His	rs769199813	missense variant	-	NC_000022.11:g.36316602C>T	ExAC,gnomAD
MYH9	P35579	p.Arg432Gly	rs774708443	missense variant	-	NC_000022.11:g.36316603G>C	ExAC
MYH9	P35579	p.Arg432Cys	rs774708443	missense variant	-	NC_000022.11:g.36316603G>A	ExAC
MYH9	P35579	p.Ile433Val	rs1236399112	missense variant	-	NC_000022.11:g.36316600T>C	gnomAD
MYH9	P35579	p.Asn434Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36316595G>C	NCI-TCGA
MYH9	P35579	p.Asn434Asp	NCI-TCGA novel	insertion	-	NC_000022.11:g.36316594_36316595insATC	NCI-TCGA
MYH9	P35579	p.Asn434Ser	rs749647444	missense variant	-	NC_000022.11:g.36316596T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala436Ser	rs770360786	missense variant	-	NC_000022.11:g.36316591C>A	ExAC,gnomAD
MYH9	P35579	p.Ala436Thr	rs770360786	missense variant	-	NC_000022.11:g.36316591C>T	ExAC,gnomAD
MYH9	P35579	p.Lys439Asn	rs746308824	missense variant	-	NC_000022.11:g.36316580C>G	ExAC,gnomAD
MYH9	P35579	p.Thr440Ser	rs777347688	missense variant	-	NC_000022.11:g.36316578G>C	ExAC,gnomAD
MYH9	P35579	p.Thr440Ile	rs777347688	missense variant	-	NC_000022.11:g.36316578G>A	ExAC,gnomAD
MYH9	P35579	p.Lys441Arg	rs1309957564	missense variant	-	NC_000022.11:g.36316575T>C	gnomAD
MYH9	P35579	p.Arg442Ser	rs747859181	missense variant	-	NC_000022.11:g.36316571C>G	ExAC,gnomAD
MYH9	P35579	p.Gly444Cys	rs1437113375	missense variant	-	NC_000022.11:g.36316567C>A	gnomAD
MYH9	P35579	p.Ala445Thr	rs1158286758	missense variant	-	NC_000022.11:g.36316564C>T	gnomAD
MYH9	P35579	p.Ser446Pro	rs1476839512	missense variant	-	NC_000022.11:g.36316561A>G	TOPMed
MYH9	P35579	p.Ile448Val	rs753698107	missense variant	-	NC_000022.11:g.36316555T>C	ExAC,gnomAD
MYH9	P35579	p.Gly449Glu	rs1485096168	missense variant	-	NC_000022.11:g.36316551C>T	gnomAD
MYH9	P35579	p.Ile450Thr	rs1401912876	missense variant	-	NC_000022.11:g.36316548A>G	TOPMed
MYH9	P35579	p.Ile453Thr	rs756091700	missense variant	-	NC_000022.11:g.36316539A>G	ExAC,gnomAD
MYH9	P35579	p.Phe456Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36316529G>C	NCI-TCGA
MYH9	P35579	p.Glu457Lys	COSM124618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36316528C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Asp460Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36316518T>C	NCI-TCGA
MYH9	P35579	p.Ser463Leu	rs781250396	missense variant	-	NC_000022.11:g.36314311G>A	ExAC,gnomAD
MYH9	P35579	p.Glu465Gln	COSM6022027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314306C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Ile469Met	COSM726445	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314292G>C	NCI-TCGA Cosmic
MYH9	P35579	p.Asn470Ser	rs751720764	missense variant	-	NC_000022.11:g.36314290T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Tyr471Cys	rs1469861257	missense variant	-	NC_000022.11:g.36314287T>C	TOPMed
MYH9	P35579	p.Glu474Gln	COSM461109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314279C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Thr483Ile	rs1391306150	missense variant	-	NC_000022.11:g.36314251G>A	gnomAD
MYH9	P35579	p.Glu488Gln	COSM726446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314237C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Glu490Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36314229C>G	NCI-TCGA
MYH9	P35579	p.Tyr492Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36314224T>C	NCI-TCGA
MYH9	P35579	p.Arg494Cys	rs759798434	missense variant	-	NC_000022.11:g.36314219G>A	ExAC,gnomAD
MYH9	P35579	p.Arg494His	rs1166441183	missense variant	-	NC_000022.11:g.36314218C>T	TOPMed,gnomAD
MYH9	P35579	p.Ile497Val	rs761125973	missense variant	-	NC_000022.11:g.36314210T>C	ExAC,gnomAD
MYH9	P35579	p.Glu498Lys	RCV000722990	missense variant	-	NC_000022.11:g.36314207C>T	ClinVar
MYH9	P35579	p.Ile502Val	rs374837768	missense variant	-	NC_000022.11:g.36314195T>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp503Asn	rs1374509912	missense variant	-	NC_000022.11:g.36314192C>T	gnomAD
MYH9	P35579	p.Asp507His	COSM6161833	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314180C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Asp507Asn	rs377410439	missense variant	-	NC_000022.11:g.36314180C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu508Met	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36314177G>T	NCI-TCGA
MYH9	P35579	p.Ile512Val	rs568228938	missense variant	-	NC_000022.11:g.36314165T>C	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Asp513Glu	rs886057484	missense variant	-	NC_000022.11:g.36314160G>T	-
MYH9	P35579	p.Asp513Glu	RCV000352451	missense variant	MYH9-related disorder	NC_000022.11:g.36314160G>T	ClinVar
MYH9	P35579	p.Asp513Asn	rs375899392	missense variant	-	NC_000022.11:g.36314162C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp513Glu	RCV000295267	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36314160G>T	ClinVar
MYH9	P35579	p.Leu514Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36314158A>G	NCI-TCGA
MYH9	P35579	p.Ala519Val	rs1266169478	missense variant	-	NC_000022.11:g.36312221G>A	TOPMed
MYH9	P35579	p.Pro521Thr	rs1452533167	missense variant	-	NC_000022.11:g.36312216G>T	gnomAD
MYH9	P35579	p.Pro522Leu	COSM3842609	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312212G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ile524Val	rs1222055540	missense variant	-	NC_000022.11:g.36312207T>C	TOPMed
MYH9	P35579	p.Leu525Val	COSM1308127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312204G>C	NCI-TCGA Cosmic
MYH9	P35579	p.Ala526Val	COSM4103835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312200G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Asp529Tyr	COSM6095059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312192C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu530Lys	COSM245867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312189C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Glu531Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36312186C>A	NCI-TCGA
MYH9	P35579	p.Lys536Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36312169T>G	NCI-TCGA
MYH9	P35579	p.Asp539Asn	COSM1216259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312162C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Asp539His	rs888907032	missense variant	-	NC_000022.11:g.36312162C>G	TOPMed,gnomAD
MYH9	P35579	p.Asp539Tyr	rs888907032	missense variant	-	NC_000022.11:g.36312162C>A	TOPMed,gnomAD
MYH9	P35579	p.Lys540Arg	rs1286138433	missense variant	-	NC_000022.11:g.36312158T>C	TOPMed,gnomAD
MYH9	P35579	p.Glu544Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36312147C>A	NCI-TCGA
MYH9	P35579	p.Glu544Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36312145C>A	NCI-TCGA
MYH9	P35579	p.Val546Met	rs376395196	missense variant	-	NC_000022.11:g.36312141C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln548Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36312134T>A	NCI-TCGA
MYH9	P35579	p.Gln550Ter	rs1343411512	stop gained	-	NC_000022.11:g.36312129G>A	gnomAD
MYH9	P35579	p.Gly551Arg	rs1258173006	missense variant	-	NC_000022.11:g.36312126C>G	gnomAD
MYH9	P35579	p.Thr552Ile	rs1234360640	missense variant	-	NC_000022.11:g.36312122G>A	gnomAD
MYH9	P35579	p.Pro554Thr	COSM6095060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312117G>T	NCI-TCGA Cosmic
MYH9	P35579	p.Pro554Ser	rs1304469257	missense variant	-	NC_000022.11:g.36312117G>A	gnomAD
MYH9	P35579	p.Phe556Leu	rs764746351	missense variant	-	NC_000022.11:g.36312109G>C	ExAC,gnomAD
MYH9	P35579	p.Gln561His	COSM4103834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312094C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Lys565Arg	rs1285851674	missense variant	-	NC_000022.11:g.36312083T>C	TOPMed
MYH9	P35579	p.Asp567Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36312078C>T	NCI-TCGA
MYH9	P35579	p.Phe568Leu	rs1303332766	missense variant	-	NC_000022.11:g.36312075A>G	gnomAD
MYH9	P35579	p.Ile570Val	rs1452836825	missense variant	-	NC_000022.11:g.36312069T>C	gnomAD
MYH9	P35579	p.Ile571Ser	rs771926023	missense variant	-	NC_000022.11:g.36312065A>C	ExAC,gnomAD
MYH9	P35579	p.Tyr573Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36312059T>C	NCI-TCGA
MYH9	P35579	p.Gly575Ser	rs1228797100	missense variant	-	NC_000022.11:g.36312054C>T	TOPMed
MYH9	P35579	p.Val577Ala	rs1479935984	missense variant	-	NC_000022.11:g.36309395A>G	gnomAD
MYH9	P35579	p.Asp578Tyr	rs1292798556	missense variant	-	NC_000022.11:g.36309393C>A	TOPMed
MYH9	P35579	p.Lys580Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36309386T>G	NCI-TCGA
MYH9	P35579	p.Lys580Arg	rs1373796932	missense variant	-	NC_000022.11:g.36309386T>C	TOPMed
MYH9	P35579	p.Asp582Glu	rs781414941	missense variant	-	NC_000022.11:g.36309379G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu583Lys	rs962645547	missense variant	-	NC_000022.11:g.36309378C>T	TOPMed
MYH9	P35579	p.Glu583Lys	rs962645547	missense variant	-	NC_000022.11:g.36309378C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Met586Val	rs757636640	missense variant	-	NC_000022.11:g.36309369T>C	ExAC,gnomAD
MYH9	P35579	p.Asp590Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36309356T>C	NCI-TCGA
MYH9	P35579	p.Asn593Lys	COSM726448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36309346A>C	NCI-TCGA Cosmic
MYH9	P35579	p.Asp594Gly	rs1392989079	missense variant	-	NC_000022.11:g.36309344T>C	gnomAD
MYH9	P35579	p.Ile596Val	rs1218251906	missense variant	-	NC_000022.11:g.36309339T>C	TOPMed,gnomAD
MYH9	P35579	p.Ala597Thr	rs753422577	missense variant	-	NC_000022.11:g.36309336C>T	ExAC,gnomAD
MYH9	P35579	p.Ser604Phe	COSM4817441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36309314G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ser604Pro	rs559651078	missense variant	-	NC_000022.11:g.36309315A>G	1000Genomes
MYH9	P35579	p.Asp605His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36309312C>G	NCI-TCGA
MYH9	P35579	p.Asp605Glu	rs896335377	missense variant	-	NC_000022.11:g.36309310G>C	TOPMed,gnomAD
MYH9	P35579	p.Ser609Leu	rs750091087	missense variant	-	NC_000022.11:g.36309299G>A	NCI-TCGA,NCI-TCGA Cosmic
MYH9	P35579	p.Ser609Leu	rs750091087	missense variant	-	NC_000022.11:g.36309299G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys613Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36309286C>A	NCI-TCGA
MYH9	P35579	p.Val615Met	rs1452906166	missense variant	-	NC_000022.11:g.36309282C>T	gnomAD
MYH9	P35579	p.Val615Ala	rs1212140955	missense variant	-	NC_000022.11:g.36306607A>G	TOPMed,gnomAD
MYH9	P35579	p.Val615Gly	rs1212140955	missense variant	-	NC_000022.11:g.36306607A>C	TOPMed,gnomAD
MYH9	P35579	p.Arg617Cys	rs747144646	missense variant	-	NC_000022.11:g.36306602G>A	ExAC,gnomAD
MYH9	P35579	p.Arg617His	rs151240427	missense variant	-	NC_000022.11:g.36306601C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile618Phe	rs1327289053	missense variant	-	NC_000022.11:g.36306599T>A	gnomAD
MYH9	P35579	p.Ile619Val	rs779544457	missense variant	-	NC_000022.11:g.36306596T>C	ExAC,gnomAD
MYH9	P35579	p.Asp622Glu	rs529696501	missense variant	-	NC_000022.11:g.36306585G>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val624Met	rs751142413	missense variant	-	NC_000022.11:g.36306581C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala625Val	rs376240562	missense variant	-	NC_000022.11:g.36306577G>A	ESP,ExAC,gnomAD
MYH9	P35579	p.Ala625Gly	rs376240562	missense variant	-	NC_000022.11:g.36306577G>C	ESP,ExAC,gnomAD
MYH9	P35579	p.Gly626Asp	rs765127399	missense variant	-	NC_000022.11:g.36306574C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gly626Ser	rs752678528	missense variant	-	NC_000022.11:g.36306575C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met627Ile	rs563928943	missense variant	-	NC_000022.11:g.36306570C>T	ExAC,gnomAD
MYH9	P35579	p.Met627Val	rs759344915	missense variant	-	NC_000022.11:g.36306572T>C	ExAC,gnomAD
MYH9	P35579	p.Ser628Leu	rs766302946	missense variant	-	NC_000022.11:g.36306568G>A	ExAC,gnomAD
MYH9	P35579	p.Glu629Gln	rs773559295	missense variant	-	NC_000022.11:g.36306566C>G	ExAC
MYH9	P35579	p.Thr630Ile	rs1186383756	missense variant	-	NC_000022.11:g.36306562G>A	gnomAD
MYH9	P35579	p.Ala631Thr	rs200546575	missense variant	-	NC_000022.11:g.36306560C>T	1000Genomes,TOPMed,gnomAD
MYH9	P35579	p.Leu632Met	rs774818812	missense variant	-	NC_000022.11:g.36306557G>T	ExAC,gnomAD
MYH9	P35579	p.Pro633Leu	rs1164585870	missense variant	-	NC_000022.11:g.36306553G>A	TOPMed
MYH9	P35579	p.Gly634Arg	rs560237482	missense variant	-	NC_000022.11:g.36306551C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala635Ser	rs1034580397	missense variant	-	NC_000022.11:g.36306548C>A	TOPMed
MYH9	P35579	p.Phe636Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36306545A>C	NCI-TCGA
MYH9	P35579	p.Phe636Leu	NCI-TCGA novel	inframe deletion	-	NC_000022.11:g.36306532_36306543TTCCGCGTCTTG>-	NCI-TCGA
MYH9	P35579	p.Thr638Met	rs770339677	missense variant	-	NC_000022.11:g.36306538G>A	ExAC,gnomAD
MYH9	P35579	p.Thr638Lys	rs770339677	missense variant	-	NC_000022.11:g.36306538G>T	ExAC,gnomAD
MYH9	P35579	p.Arg639Gln	COSM726449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36306535C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Arg639Trp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36306536G>A	NCI-TCGA
MYH9	P35579	p.Phe643LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36306518_36306524TGCGGAA>-	NCI-TCGA
MYH9	P35579	p.Arg644Cys	rs1349969983	missense variant	-	NC_000022.11:g.36306521G>A	TOPMed
MYH9	P35579	p.Gly647Trp	COSM4752846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36306512C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Tyr650Cys	rs971652837	missense variant	-	NC_000022.11:g.36306502T>C	TOPMed,gnomAD
MYH9	P35579	p.Lys656Arg	rs1024361841	missense variant	-	NC_000022.11:g.36306484T>C	TOPMed,gnomAD
MYH9	P35579	p.Thr660Met	rs1389534696	missense variant	-	NC_000022.11:g.36306472G>A	gnomAD
MYH9	P35579	p.Thr664Met	rs760820049	missense variant	-	NC_000022.11:g.36306460G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Pro666Ala	rs1482446350	missense variant	-	NC_000022.11:g.36306455G>C	TOPMed
MYH9	P35579	p.Asn667Thr	rs575821361	missense variant	-	NC_000022.11:g.36306451T>G	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg670Cys	COSM1033846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36306443G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu677Lys	rs1181607328	missense variant	-	NC_000022.11:g.36306422C>T	TOPMed
MYH9	P35579	p.Lys678Arg	rs1220725450	missense variant	-	NC_000022.11:g.36306418T>C	gnomAD
MYH9	P35579	p.Gly681Ser	RCV000425185	missense variant	-	NC_000022.11:g.36306048C>T	ClinVar
MYH9	P35579	p.Gly681Ser	rs145241551	missense variant	-	NC_000022.11:g.36306048C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gly681Cys	rs145241551	missense variant	-	NC_000022.11:g.36306048C>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Pro685Ser	rs1180042238	missense variant	-	NC_000022.11:g.36306036G>A	gnomAD
MYH9	P35579	p.Pro685Leu	rs779853972	missense variant	-	NC_000022.11:g.36306035G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Pro685Gln	rs779853972	missense variant	-	NC_000022.11:g.36306035G>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.His686Tyr	rs1200383147	missense variant	-	NC_000022.11:g.36306033G>A	gnomAD
MYH9	P35579	p.Leu687Phe	rs745729891	missense variant	-	NC_000022.11:g.36306030G>A	ExAC
MYH9	P35579	p.Val688Met	rs757396174	missense variant	-	NC_000022.11:g.36306027C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp690Gly	rs1328005977	missense variant	-	NC_000022.11:g.36306020T>C	gnomAD
MYH9	P35579	p.Arg693Cys	RCV000603024	missense variant	-	NC_000022.11:g.36306012G>A	ClinVar
MYH9	P35579	p.Arg693His	rs764189836	missense variant	-	NC_000022.11:g.36306011C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg693Cys	rs751852988	missense variant	-	NC_000022.11:g.36306012G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn695Ser	rs758606637	missense variant	-	NC_000022.11:g.36306005T>C	ExAC,gnomAD
MYH9	P35579	p.Gly696Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36306002C>T	NCI-TCGA
MYH9	P35579	p.Gly696Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36306003C>T	NCI-TCGA
MYH9	P35579	p.Ile701Met	rs560395577	missense variant	-	NC_000022.11:g.36305986G>C	1000Genomes
MYH9	P35579	p.Arg702His	RCV000851738	missense variant	MYH9-related disorder	NC_000022.11:g.36305984C>T	ClinVar
MYH9	P35579	p.Arg702Cys	RCV000015129	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305985G>A	ClinVar
MYH9	P35579	p.Arg702Cys	RCV000790354	missense variant	MYH9-related disorder	NC_000022.11:g.36305985G>A	ClinVar
MYH9	P35579	p.Arg702Cys	rs80338826	missense variant	-	NC_000022.11:g.36305985G>A	-
MYH9	P35579	p.Arg702Cys	rs80338826	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305985G>A	UniProt,dbSNP
MYH9	P35579	p.Arg702Cys	VAR_010792	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305985G>A	UniProt
MYH9	P35579	p.Arg702His	rs80338827	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305984C>T	UniProt,dbSNP
MYH9	P35579	p.Arg702His	VAR_018311	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305984C>T	UniProt
MYH9	P35579	p.Arg702His	rs80338827	missense variant	-	NC_000022.11:g.36305984C>T	-
MYH9	P35579	p.Arg702Cys	RCV000523446	missense variant	-	NC_000022.11:g.36305985G>A	ClinVar
MYH9	P35579	p.Arg705His	rs80338828	missense variant	-	NC_000022.11:g.36305975C>T	-
MYH9	P35579	p.Arg705His	rs80338828	missense variant	Deafness, autosomal dominant, 17 (DFNA17)	NC_000022.11:g.36305975C>T	UniProt,dbSNP
MYH9	P35579	p.Arg705His	VAR_010793	missense variant	Deafness, autosomal dominant, 17 (DFNA17)	NC_000022.11:g.36305975C>T	UniProt
MYH9	P35579	p.Arg705His	RCV000015130	missense variant	Deafness, autosomal dominant nonsyndromic sensorineural 17 (DFNA17)	NC_000022.11:g.36305975C>T	ClinVar
MYH9	P35579	p.Arg705His	RCV000032218	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305975C>T	ClinVar
MYH9	P35579	p.Gln706Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36305973G>A	NCI-TCGA
MYH9	P35579	p.Pro709Ser	rs1310965766	missense variant	-	NC_000022.11:g.36305964G>A	TOPMed
MYH9	P35579	p.Asn710ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36305962G>-	NCI-TCGA
MYH9	P35579	p.Asn710Ser	rs1364444432	missense variant	-	NC_000022.11:g.36305960T>C	gnomAD
MYH9	P35579	p.Val712Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36305954A>T	NCI-TCGA
MYH9	P35579	p.Val713Ile	rs773875063	missense variant	-	NC_000022.11:g.36305952C>T	ExAC,gnomAD
MYH9	P35579	p.Arg718Gln	rs1464713086	missense variant	-	NC_000022.11:g.36305936C>T	gnomAD
MYH9	P35579	p.Arg718Trp	rs1184544985	missense variant	-	NC_000022.11:g.36305937G>A	gnomAD
MYH9	P35579	p.Arg718Leu	rs1464713086	missense variant	-	NC_000022.11:g.36305936C>A	gnomAD
MYH9	P35579	p.Gln719Glu	rs1272425560	missense variant	-	NC_000022.11:g.36305934G>C	TOPMed
MYH9	P35579	p.Glu722Lys	rs1308156097	missense variant	-	NC_000022.11:g.36305098C>T	TOPMed
MYH9	P35579	p.Pro726Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36305086G>A	NCI-TCGA
MYH9	P35579	p.Pro726Ala	rs1388737281	missense variant	-	NC_000022.11:g.36305086G>C	gnomAD
MYH9	P35579	p.Ser728Cys	rs371833667	missense variant	-	NC_000022.11:g.36305079G>C	ESP
MYH9	P35579	p.Lys731Asn	rs779077719	missense variant	-	NC_000022.11:g.36305069C>G	ExAC,gnomAD
MYH9	P35579	p.Lys731Arg	rs1475932323	missense variant	-	NC_000022.11:g.36305070T>C	gnomAD
MYH9	P35579	p.Gly732Asp	rs1196300709	missense variant	-	NC_000022.11:g.36305067C>T	gnomAD
MYH9	P35579	p.Gly732Ser	rs957338981	missense variant	-	NC_000022.11:g.36305068C>T	TOPMed
MYH9	P35579	p.Gly736Arg	rs754226657	missense variant	-	NC_000022.11:g.36305056C>T	ExAC,gnomAD
MYH9	P35579	p.Gln738Ter	COSM5611448	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36305050G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ala739Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36305047C>T	NCI-TCGA
MYH9	P35579	p.Ala739Val	rs368367291	missense variant	-	NC_000022.11:g.36305046G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val741Met	rs140032888	missense variant	-	NC_000022.11:g.36305041C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala746Ser	rs1177728611	missense variant	-	NC_000022.11:g.36304149C>A	gnomAD
MYH9	P35579	p.Ala746Asp	rs1472400866	missense variant	-	NC_000022.11:g.36304148G>T	TOPMed,gnomAD
MYH9	P35579	p.Ala746Val	rs1472400866	missense variant	-	NC_000022.11:g.36304148G>A	TOPMed,gnomAD
MYH9	P35579	p.Asp750His	COSM1308126	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36304137C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Asn752His	rs1358930244	missense variant	-	NC_000022.11:g.36304131T>G	TOPMed
MYH9	P35579	p.Arg755Cys	rs768721880	missense variant	-	NC_000022.11:g.36304122G>A	ExAC,gnomAD
MYH9	P35579	p.Ile756Thr	rs769495712	missense variant	-	NC_000022.11:g.36304118A>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile756Leu	rs937636221	missense variant	-	NC_000022.11:g.36304119T>G	TOPMed,gnomAD
MYH9	P35579	p.Ile756Val	rs937636221	missense variant	-	NC_000022.11:g.36304119T>C	TOPMed,gnomAD
MYH9	P35579	p.Phe762Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36304099G>C	NCI-TCGA
MYH9	P35579	p.Phe763Val	rs1356205630	missense variant	-	NC_000022.11:g.36304098A>C	gnomAD
MYH9	P35579	p.Phe763Leu	rs770092510	missense variant	-	NC_000022.11:g.36304096G>C	ExAC,gnomAD
MYH9	P35579	p.Phe763Cys	rs1282922939	missense variant	-	NC_000022.11:g.36304097A>C	TOPMed,gnomAD
MYH9	P35579	p.Arg764Cys	rs1383986403	missense variant	-	NC_000022.11:g.36304095G>A	gnomAD
MYH9	P35579	p.Arg764Pro	rs746272927	missense variant	-	NC_000022.11:g.36304094C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg764His	rs746272927	missense variant	-	NC_000022.11:g.36304094C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala765LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36304092_36304093insACGGAAG	NCI-TCGA
MYH9	P35579	p.Gly766Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36304088C>T	NCI-TCGA
MYH9	P35579	p.Gly766Ser	rs757850500	missense variant	-	NC_000022.11:g.36304089C>T	ExAC,gnomAD
MYH9	P35579	p.Gly766Arg	rs757850500	missense variant	-	NC_000022.11:g.36304089C>G	ExAC,gnomAD
MYH9	P35579	p.Val767Met	rs1168825871	missense variant	-	NC_000022.11:g.36304086C>T	TOPMed
MYH9	P35579	p.Ala769Thr	COSM1416056	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36304080C>T	NCI-TCGA Cosmic
MYH9	P35579	p.His770Asp	rs1302034883	missense variant	-	NC_000022.11:g.36304077G>C	gnomAD
MYH9	P35579	p.Glu772Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36304071C>T	NCI-TCGA
MYH9	P35579	p.Glu774Gly	rs778631810	missense variant	-	NC_000022.11:g.36304064T>C	ExAC,gnomAD
MYH9	P35579	p.Glu774Lys	rs1390002402	missense variant	-	NC_000022.11:g.36304065C>T	TOPMed
MYH9	P35579	p.Arg775Gln	rs1411583227	missense variant	-	NC_000022.11:g.36304061C>T	gnomAD
MYH9	P35579	p.Asp776Tyr	COSM1033844	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36304059C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Lys778Thr	COSM4103832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36304052T>G	NCI-TCGA Cosmic
MYH9	P35579	p.Lys778Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36304051C>G	NCI-TCGA
MYH9	P35579	p.Thr780Asn	rs1328642771	missense variant	-	NC_000022.11:g.36304046G>T	TOPMed
MYH9	P35579	p.Asp781Glu	rs143290101	missense variant	-	NC_000022.11:g.36304042G>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp781Asn	rs766088687	missense variant	-	NC_000022.11:g.36304044C>T	ExAC,gnomAD
MYH9	P35579	p.Val782Ile	rs139966058	missense variant	-	NC_000022.11:g.36304041C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile783Val	rs761808742	missense variant	-	NC_000022.11:g.36304038T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile784Ter	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36304036G>-	NCI-TCGA
MYH9	P35579	p.Ile784Thr	rs1288434900	missense variant	-	NC_000022.11:g.36304034A>G	gnomAD
MYH9	P35579	p.Ile784Val	rs764202808	missense variant	-	NC_000022.11:g.36304035T>C	ExAC,gnomAD
MYH9	P35579	p.Ile784Met	rs762985813	missense variant	-	NC_000022.11:g.36304033T>C	ExAC,gnomAD
MYH9	P35579	p.Gln787Lys	rs1360639678	missense variant	-	NC_000022.11:g.36304026G>T	gnomAD
MYH9	P35579	p.Ala788Thr	rs775388995	missense variant	-	NC_000022.11:g.36304023C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Cys789Tyr	rs1481570838	missense variant	-	NC_000022.11:g.36304019C>T	gnomAD
MYH9	P35579	p.Cys789Arg	rs1277008210	missense variant	-	NC_000022.11:g.36304020A>G	TOPMed
MYH9	P35579	p.Cys790Tyr	rs1225748629	missense variant	-	NC_000022.11:g.36304016C>T	gnomAD
MYH9	P35579	p.Gly792Ala	rs1363695227	missense variant	-	NC_000022.11:g.36304010C>G	gnomAD
MYH9	P35579	p.Gly792Ser	rs770074508	missense variant	-	NC_000022.11:g.36304011C>T	ExAC
MYH9	P35579	p.Ala795Ser	rs374505336	missense variant	-	NC_000022.11:g.36304002C>A	ESP
MYH9	P35579	p.Ala798Val	rs1252181324	missense variant	-	NC_000022.11:g.36302674G>A	gnomAD
MYH9	P35579	p.Ala798Thr	rs1481830546	missense variant	-	NC_000022.11:g.36302675C>T	gnomAD
MYH9	P35579	p.Ala800Ser	rs780787641	missense variant	-	NC_000022.11:g.36302669C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala800Val	rs756860325	missense variant	-	NC_000022.11:g.36302668G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys801Asn	rs777484384	missense variant	-	NC_000022.11:g.36302664C>A	ExAC,gnomAD
MYH9	P35579	p.Arg802Leu	COSM726450	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36302662C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Arg802Gln	rs765414397	missense variant	-	NC_000022.11:g.36302662C>T	ExAC,gnomAD
MYH9	P35579	p.Arg802Trp	rs548123125	missense variant	-	NC_000022.11:g.36302663G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln803Arg	COSM4103831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36302659T>C	NCI-TCGA Cosmic
MYH9	P35579	p.Gln805His	rs1285650243	missense variant	-	NC_000022.11:g.36302652C>A	TOPMed
MYH9	P35579	p.Leu806Arg	rs1487827633	missense variant	-	NC_000022.11:g.36302650A>C	TOPMed
MYH9	P35579	p.Thr807Ala	rs1428269826	missense variant	-	NC_000022.11:g.36302648T>C	gnomAD
MYH9	P35579	p.Ala808Ser	rs201967008	missense variant	-	NC_000022.11:g.36302645C>A	ExAC,gnomAD
MYH9	P35579	p.Ala808Thr	rs201967008	missense variant	-	NC_000022.11:g.36302645C>T	ExAC,gnomAD
MYH9	P35579	p.Met809Leu	rs766731617	missense variant	-	NC_000022.11:g.36302642T>A	ExAC,gnomAD
MYH9	P35579	p.Met809Ile	rs1270895418	missense variant	-	NC_000022.11:g.36302640C>T	TOPMed
MYH9	P35579	p.Lys810Thr	rs1464332684	missense variant	-	NC_000022.11:g.36302638T>G	gnomAD
MYH9	P35579	p.Lys810Asn	VAR_036006	Missense	-	-	UniProt
MYH9	P35579	p.Leu812Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36302633G>T	NCI-TCGA
MYH9	P35579	p.Arg814Gln	rs760924443	missense variant	-	NC_000022.11:g.36302626C>T	ExAC,gnomAD
MYH9	P35579	p.Ala817Thr	rs528027573	missense variant	-	NC_000022.11:g.36302618C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala817Ser	rs528027573	missense variant	-	NC_000022.11:g.36302618C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala818Thr	rs565554438	missense variant	-	NC_000022.11:g.36302615C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Gln826Arg	rs1156433277	missense variant	-	NC_000022.11:g.36302590T>C	TOPMed
MYH9	P35579	p.Lys833Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36302568C>A	NCI-TCGA
MYH9	P35579	p.Lys833Arg	rs1436399558	missense variant	-	NC_000022.11:g.36302569T>C	TOPMed
MYH9	P35579	p.Arg842Gln	rs924955378	missense variant	-	NC_000022.11:g.36301640C>T	TOPMed
MYH9	P35579	p.Arg842Trp	rs1385755065	missense variant	-	NC_000022.11:g.36301641G>A	gnomAD
MYH9	P35579	p.Gln843Arg	rs144633299	missense variant	-	NC_000022.11:g.36301637T>C	ESP,TOPMed
MYH9	P35579	p.Met847Val	rs770422754	missense variant	-	NC_000022.11:g.36301626T>C	ExAC,gnomAD
MYH9	P35579	p.Lys850Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36301615C>A	NCI-TCGA
MYH9	P35579	p.Glu851Val	rs1164560286	missense variant	-	NC_000022.11:g.36301613T>A	gnomAD
MYH9	P35579	p.Val855Met	rs1348678369	missense variant	-	NC_000022.11:g.36301602C>T	TOPMed
MYH9	P35579	p.Val855Leu	rs1348678369	missense variant	-	NC_000022.11:g.36301602C>A	TOPMed
MYH9	P35579	p.Lys856Thr	rs888923106	missense variant	-	NC_000022.11:g.36301598T>G	gnomAD
MYH9	P35579	p.Val857Ile	rs1379313955	missense variant	-	NC_000022.11:g.36301596C>T	TOPMed
MYH9	P35579	p.Arg858Thr	COSM1308125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36301592C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Arg858Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36301592C>T	NCI-TCGA
MYH9	P35579	p.Glu859Val	COSM3842607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36301589T>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu859Asp	COSM3842606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36301588C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu859Leu	NCI-TCGA novel	insertion	-	NC_000022.11:g.36301587_36301588insGAG	NCI-TCGA
MYH9	P35579	p.Gln861Arg	rs747918904	missense variant	-	NC_000022.11:g.36301583T>C	ExAC,gnomAD
MYH9	P35579	p.Gln861His	rs371397198	missense variant	-	NC_000022.11:g.36301582C>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala863Ser	rs1308862965	missense variant	-	NC_000022.11:g.36301578C>A	TOPMed
MYH9	P35579	p.Ala864Val	rs142467329	missense variant	-	NC_000022.11:g.36301574G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala864Ser	rs1349640219	missense variant	-	NC_000022.11:g.36301575C>A	TOPMed
MYH9	P35579	p.Glu865Gln	rs780342410	missense variant	-	NC_000022.11:g.36301572C>G	ExAC,gnomAD
MYH9	P35579	p.Glu865Gly	rs756244209	missense variant	-	NC_000022.11:g.36301571T>C	ExAC
MYH9	P35579	p.Asn866Lys	RCV000262620	missense variant	MYH9-related disorder	NC_000022.11:g.36301567G>C	ClinVar
MYH9	P35579	p.Asn866Lys	rs750718366	missense variant	-	NC_000022.11:g.36301567G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn866Ser	rs1268708387	missense variant	-	NC_000022.11:g.36301568T>C	gnomAD
MYH9	P35579	p.Asn866Lys	RCV000359728	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36301567G>C	ClinVar
MYH9	P35579	p.Thr869Met	rs757448185	missense variant	-	NC_000022.11:g.36301559G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr869Arg	rs757448185	missense variant	-	NC_000022.11:g.36301559G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr869Lys	rs757448185	missense variant	-	NC_000022.11:g.36301559G>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu870Lys	rs1462730594	missense variant	-	NC_000022.11:g.36301557C>T	gnomAD
MYH9	P35579	p.Met871Leu	rs1374971545	missense variant	-	NC_000022.11:g.36301554T>A	gnomAD
MYH9	P35579	p.Thr873Ala	rs764450747	missense variant	-	NC_000022.11:g.36301548T>C	ExAC,gnomAD
MYH9	P35579	p.Thr873Met	rs763516009	missense variant	-	NC_000022.11:g.36301547G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln877Ter	COSM419569	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36301536G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Gln877Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36301535T>C	NCI-TCGA
MYH9	P35579	p.Met879Leu	RCV000306348	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36301054T>G	ClinVar
MYH9	P35579	p.Met879Leu	RCV000151342	missense variant	-	NC_000022.11:g.36301054T>G	ClinVar
MYH9	P35579	p.Met879Leu	rs200328859	missense variant	-	NC_000022.11:g.36301054T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met879Leu	RCV000344830	missense variant	MYH9-related disorder	NC_000022.11:g.36301054T>G	ClinVar
MYH9	P35579	p.Met879Thr	rs1281759953	missense variant	-	NC_000022.11:g.36301053A>G	gnomAD
MYH9	P35579	p.Met879Val	rs200328859	missense variant	-	NC_000022.11:g.36301054T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala880Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36301050G>T	NCI-TCGA
MYH9	P35579	p.Ala880Thr	rs1240283327	missense variant	-	NC_000022.11:g.36301051C>T	gnomAD
MYH9	P35579	p.Ala880Val	rs1236627285	missense variant	-	NC_000022.11:g.36301050G>A	TOPMed
MYH9	P35579	p.Glu881Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36301046C>A	NCI-TCGA
MYH9	P35579	p.Lys882Arg	rs1226164291	missense variant	-	NC_000022.11:g.36301044T>C	gnomAD
MYH9	P35579	p.Gln888His	rs1316967947	missense variant	-	NC_000022.11:g.36301025C>A	TOPMed,gnomAD
MYH9	P35579	p.Gln888Glu	rs745736187	missense variant	-	NC_000022.11:g.36301027G>C	ExAC,gnomAD
MYH9	P35579	p.Gln890Glu	rs1398419087	missense variant	-	NC_000022.11:g.36301021G>C	gnomAD
MYH9	P35579	p.Glu894Lys	rs1472348578	missense variant	-	NC_000022.11:g.36301009C>T	gnomAD
MYH9	P35579	p.Glu898Lys	rs1462795072	missense variant	-	NC_000022.11:g.36300997C>T	gnomAD
MYH9	P35579	p.Glu898Asp	rs1243945044	missense variant	-	NC_000022.11:g.36300995C>G	gnomAD
MYH9	P35579	p.Arg903Gln	rs1215219107	missense variant	-	NC_000022.11:g.36300981C>T	gnomAD
MYH9	P35579	p.Arg905His	RCV000765635	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36300975C>T	ClinVar
MYH9	P35579	p.Arg905Cys	rs377115843	missense variant	-	NC_000022.11:g.36300976G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg905His	rs727503289	missense variant	-	NC_000022.11:g.36300975C>T	ExAC,gnomAD
MYH9	P35579	p.Arg905His	RCV000151340	missense variant	-	NC_000022.11:g.36300975C>T	ClinVar
MYH9	P35579	p.Thr907Ala	RCV000600513	missense variant	-	NC_000022.11:g.36300970T>C	ClinVar
MYH9	P35579	p.Thr907Ala	rs754354210	missense variant	-	NC_000022.11:g.36300970T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr907Ile	rs766982816	missense variant	-	NC_000022.11:g.36300969G>A	ExAC,gnomAD
MYH9	P35579	p.Ala908Thr	rs150177079	missense variant	-	NC_000022.11:g.36300967C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys910Gln	rs554332083	missense variant	-	NC_000022.11:g.36300961T>G	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Lys910Gln	rs554332083	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36300961T>G	UniProt,dbSNP
MYH9	P35579	p.Lys910Gln	VAR_044226	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36300961T>G	UniProt
MYH9	P35579	p.Glu912Asp	COSM444939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300953T>G	NCI-TCGA Cosmic
MYH9	P35579	p.Glu915Lys	COSM3800178	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300946C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Glu915Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36300946C>A	NCI-TCGA
MYH9	P35579	p.Asp919Asn	rs1318910548	missense variant	-	NC_000022.11:g.36300934C>T	gnomAD
MYH9	P35579	p.Glu921Lys	rs775434135	missense variant	-	NC_000022.11:g.36300928C>T	ExAC,gnomAD
MYH9	P35579	p.Arg923Lys	rs1165284857	missense variant	-	NC_000022.11:g.36300921C>T	TOPMed,gnomAD
MYH9	P35579	p.Val924Ala	rs140933307	missense variant	-	NC_000022.11:g.36300918A>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val924Leu	rs540698347	missense variant	-	NC_000022.11:g.36300919C>A	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Val924Met	rs540698347	missense variant	-	NC_000022.11:g.36300919C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Glu925Val	COSM1416052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300915T>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu926Gln	rs1474469422	missense variant	-	NC_000022.11:g.36300913C>G	gnomAD
MYH9	P35579	p.Glu929Asp	COSM4103829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300902C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Arg930His	rs727504740	missense variant	-	NC_000022.11:g.36300900C>T	ExAC,gnomAD
MYH9	P35579	p.Arg930His	RCV000156038	missense variant	-	NC_000022.11:g.36300900C>T	ClinVar
MYH9	P35579	p.Gln932Arg	rs1318665432	missense variant	-	NC_000022.11:g.36300894T>C	TOPMed
MYH9	P35579	p.Ala936Val	rs773227499	missense variant	-	NC_000022.11:g.36300882G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys939Glu	rs368994508	missense variant	-	NC_000022.11:g.36300874T>C	ESP,TOPMed
MYH9	P35579	p.Lys939Arg	rs558420659	missense variant	-	NC_000022.11:g.36300873T>C	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Lys940Met	rs755311538	missense variant	-	NC_000022.11:g.36300870T>A	ExAC,gnomAD
MYH9	P35579	p.Met941Leu	rs1256574392	missense variant	-	NC_000022.11:g.36300868T>A	TOPMed
MYH9	P35579	p.Gln942Glu	rs1170023687	missense variant	-	NC_000022.11:g.36300865G>C	gnomAD
MYH9	P35579	p.Gln942His	rs538431419	missense variant	-	NC_000022.11:g.36300863C>G	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln943His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36300860C>G	NCI-TCGA
MYH9	P35579	p.Ile945Thr	rs1421778039	missense variant	-	NC_000022.11:g.36300855A>G	gnomAD
MYH9	P35579	p.Leu948Ile	rs1157553597	missense variant	-	NC_000022.11:g.36300261G>T	gnomAD
MYH9	P35579	p.Glu953Lys	rs1219581491	missense variant	-	NC_000022.11:g.36300246C>T	gnomAD
MYH9	P35579	p.Glu955Lys	rs770044873	missense variant	-	NC_000022.11:g.36300240C>T	ExAC,gnomAD
MYH9	P35579	p.Ser957Asn	rs781756258	missense variant	-	NC_000022.11:g.36300233C>T	ExAC,gnomAD
MYH9	P35579	p.Ser957Arg	rs746428179	missense variant	-	NC_000022.11:g.36300234T>G	ExAC,TOPMed
MYH9	P35579	p.Ser957Arg	rs374840260	missense variant	-	NC_000022.11:g.36300232G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser957Gly	rs746428179	missense variant	-	NC_000022.11:g.36300234T>C	ExAC,TOPMed
MYH9	P35579	p.Ala958Thr	RCV000726812	missense variant	-	NC_000022.11:g.36300231C>T	ClinVar
MYH9	P35579	p.Ala958Thr	rs151036570	missense variant	-	NC_000022.11:g.36300231C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg959Trp	rs778229923	missense variant	-	NC_000022.11:g.36300228G>A	ExAC,gnomAD
MYH9	P35579	p.Arg959Gln	rs1314063310	missense variant	-	NC_000022.11:g.36300227C>T	TOPMed,gnomAD
MYH9	P35579	p.Leu964Val	rs1305976278	missense variant	-	NC_000022.11:g.36300213G>C	gnomAD
MYH9	P35579	p.Glu965Gln	COSM3992135	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300210C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Glu965Asp	rs753419440	missense variant	-	NC_000022.11:g.36300208C>G	ExAC,gnomAD
MYH9	P35579	p.Lys966Asn	rs1345299849	missense variant	-	NC_000022.11:g.36300205C>A	TOPMed
MYH9	P35579	p.Val967Glu	RCV000032219	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36300203A>T	ClinVar
MYH9	P35579	p.Val967Glu	rs16996652	missense variant	-	NC_000022.11:g.36300203A>T	gnomAD
MYH9	P35579	p.Val967Ala	rs16996652	missense variant	-	NC_000022.11:g.36300203A>G	gnomAD
MYH9	P35579	p.Thr969Ile	rs755833335	missense variant	-	NC_000022.11:g.36300197G>A	ExAC,gnomAD
MYH9	P35579	p.Glu970Lys	rs761675946	missense variant	-	NC_000022.11:g.36300195C>T	ExAC,gnomAD
MYH9	P35579	p.Ala971Thr	rs751639664	missense variant	-	NC_000022.11:g.36300192C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala971Gly	rs199654108	missense variant	-	NC_000022.11:g.36300191G>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala971Val	rs199654108	missense variant	-	NC_000022.11:g.36300191G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala971Ser	rs751639664	missense variant	-	NC_000022.11:g.36300192C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys974Asn	rs760011069	missense variant	-	NC_000022.11:g.36300181T>G	ExAC,gnomAD
MYH9	P35579	p.Lys974Gln	rs770237894	missense variant	-	NC_000022.11:g.36300183T>G	ExAC,gnomAD
MYH9	P35579	p.Glu978Gln	COSM4832982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300171C>G	NCI-TCGA Cosmic
MYH9	P35579	p.Glu978Lys	rs1258982191	missense variant	-	NC_000022.11:g.36300171C>T	gnomAD
MYH9	P35579	p.Glu979Gly	rs1488601046	missense variant	-	NC_000022.11:g.36300167T>C	gnomAD
MYH9	P35579	p.Gln980Ter	COSM78996	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36300165G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Gln980His	rs777089353	missense variant	-	NC_000022.11:g.36300163C>A	ExAC,gnomAD
MYH9	P35579	p.Ile981Phe	rs771579189	missense variant	-	NC_000022.11:g.36300162T>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile981Asn	rs747453689	missense variant	-	NC_000022.11:g.36300161A>T	ExAC,gnomAD
MYH9	P35579	p.Ile981Val	rs771579189	missense variant	-	NC_000022.11:g.36300162T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp985Glu	rs1192579067	missense variant	-	NC_000022.11:g.36300148G>C	TOPMed
MYH9	P35579	p.Gln986His	rs199520053	missense variant	-	NC_000022.11:g.36300145C>G	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn987Lys	rs1422821339	missense variant	-	NC_000022.11:g.36300142G>C	gnomAD
MYH9	P35579	p.Cys988Phe	rs1325954970	missense variant	-	NC_000022.11:g.36300140C>A	gnomAD
MYH9	P35579	p.Lys989Gln	rs201389127	missense variant	-	NC_000022.11:g.36300138T>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala991Gly	rs1172070794	missense variant	-	NC_000022.11:g.36300131G>C	TOPMed
MYH9	P35579	p.Glu993Ala	rs1462668384	missense variant	-	NC_000022.11:g.36299041T>G	TOPMed
MYH9	P35579	p.Lys994Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36299037C>A	NCI-TCGA
MYH9	P35579	p.Leu996Met	rs1390409373	missense variant	-	NC_000022.11:g.36299033G>T	TOPMed
MYH9	P35579	p.Ile1001Thr	rs1262532933	missense variant	-	NC_000022.11:g.36299017A>G	gnomAD
MYH9	P35579	p.Glu1003Lys	COSM1308124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36299012C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Phe1004Leu	rs373350321	missense variant	-	NC_000022.11:g.36299007G>C	ESP,ExAC,gnomAD
MYH9	P35579	p.Thr1006Ala	rs758307420	missense variant	-	NC_000022.11:g.36299003T>C	ExAC,gnomAD
MYH9	P35579	p.Asn1007Ser	rs1041697352	missense variant	-	NC_000022.11:g.36298999T>C	TOPMed,gnomAD
MYH9	P35579	p.Leu1008Val	rs535649291	missense variant	-	NC_000022.11:g.36298997G>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr1009Ile	COSM1327247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36298993G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1011Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36298988C>G	NCI-TCGA
MYH9	P35579	p.Glu1012Gln	rs1332967584	missense variant	-	NC_000022.11:g.36298985C>G	gnomAD
MYH9	P35579	p.Glu1013Ter	COSM1308123	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36298982C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1013Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36298982C>T	NCI-TCGA
MYH9	P35579	p.Lys1014Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36298978T>G	NCI-TCGA
MYH9	P35579	p.Lys1016Arg	rs1334169478	missense variant	-	NC_000022.11:g.36298972T>C	gnomAD
MYH9	P35579	p.Ala1019Thr	rs566644790	missense variant	-	NC_000022.11:g.36298964C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Lys1020AsnPheSerTerUnk	COSM444938	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36298959C>-	NCI-TCGA Cosmic
MYH9	P35579	p.Lys1020Thr	rs1468410925	missense variant	-	NC_000022.11:g.36298960T>G	gnomAD
MYH9	P35579	p.Leu1021Phe	rs1365263842	missense variant	-	NC_000022.11:g.36298958G>A	TOPMed,gnomAD
MYH9	P35579	p.Lys1022Asn	rs767919752	missense variant	-	NC_000022.11:g.36298953C>A	ExAC
MYH9	P35579	p.Lys1022Arg	rs773575034	missense variant	-	NC_000022.11:g.36298954T>C	ExAC
MYH9	P35579	p.Asn1023Ser	rs762311512	missense variant	-	NC_000022.11:g.36298951T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.His1025Gln	rs769284029	missense variant	-	NC_000022.11:g.36298944A>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1027Glu	rs1279963355	missense variant	-	NC_000022.11:g.36298939G>T	gnomAD
MYH9	P35579	p.Ala1027Thr	rs745573154	missense variant	-	NC_000022.11:g.36298940C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met1028Val	rs1205000981	missense variant	-	NC_000022.11:g.36298937T>C	TOPMed,gnomAD
MYH9	P35579	p.Met1028Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36298935C>T	NCI-TCGA
MYH9	P35579	p.Ile1029Thr	COSM478925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36298933A>G	NCI-TCGA Cosmic
MYH9	P35579	p.Thr1030Ile	rs1349012755	missense variant	-	NC_000022.11:g.36298930G>A	gnomAD
MYH9	P35579	p.Asp1031Tyr	COSM1033842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36298928C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Asp1031Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36298928C>T	NCI-TCGA
MYH9	P35579	p.Glu1033Gly	rs1311867012	missense variant	-	NC_000022.11:g.36298921T>C	gnomAD
MYH9	P35579	p.Arg1035Cys	rs772948183	missense variant	-	NC_000022.11:g.36297012G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1035His	rs771889310	missense variant	-	NC_000022.11:g.36297011C>T	ExAC,gnomAD
MYH9	P35579	p.Leu1036Phe	rs1205232668	missense variant	-	NC_000022.11:g.36297009G>A	TOPMed
MYH9	P35579	p.Arg1037Cys	rs748075110	missense variant	-	NC_000022.11:g.36297006G>A	ExAC,gnomAD
MYH9	P35579	p.Arg1037His	rs1194942976	missense variant	-	NC_000022.11:g.36297005C>T	TOPMed,gnomAD
MYH9	P35579	p.Glu1039Asp	rs779024392	missense variant	-	NC_000022.11:g.36296998C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1040Lys	rs1180703933	missense variant	-	NC_000022.11:g.36296997C>T	TOPMed
MYH9	P35579	p.Lys1041Met	rs1369361478	missense variant	-	NC_000022.11:g.36296993T>A	TOPMed
MYH9	P35579	p.Lys1041Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36296994T>G	NCI-TCGA
MYH9	P35579	p.Arg1043Ter	COSM4103827	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36296988G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Arg1043Leu	rs957892036	missense variant	-	NC_000022.11:g.36296987C>A	TOPMed
MYH9	P35579	p.Arg1043Gln	rs957892036	missense variant	-	NC_000022.11:g.36296987C>T	TOPMed
MYH9	P35579	p.Leu1046Val	RCV000372267	missense variant	MYH9-related disorder	NC_000022.11:g.36296979G>C	ClinVar
MYH9	P35579	p.Leu1046Val	rs886057482	missense variant	-	NC_000022.11:g.36296979G>C	-
MYH9	P35579	p.Leu1046Val	RCV000317573	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36296979G>C	ClinVar
MYH9	P35579	p.Thr1049Ala	rs1321987923	missense variant	-	NC_000022.11:g.36296970T>C	gnomAD
MYH9	P35579	p.Arg1050His	rs768664061	missense variant	-	NC_000022.11:g.36296966C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1051Trp	rs1319309604	missense variant	-	NC_000022.11:g.36296964G>A	gnomAD
MYH9	P35579	p.Arg1051Gln	rs749390875	missense variant	-	NC_000022.11:g.36296963C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1056Tyr	rs1343443370	missense variant	-	NC_000022.11:g.36296949C>A	gnomAD
MYH9	P35579	p.Ser1057Tyr	rs756355713	missense variant	-	NC_000022.11:g.36296945G>T	ExAC,gnomAD
MYH9	P35579	p.Leu1060Phe	rs56767084	missense variant	-	NC_000022.11:g.36296937G>A	ExAC
MYH9	P35579	p.Ser1061Cys	rs199971000	missense variant	-	NC_000022.11:g.36296934T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1061Asn	rs1328427147	missense variant	-	NC_000022.11:g.36296933C>T	gnomAD
MYH9	P35579	p.Asp1062Val	rs1323058824	missense variant	-	NC_000022.11:g.36296930T>A	gnomAD
MYH9	P35579	p.Asp1062Asn	rs368438600	missense variant	-	NC_000022.11:g.36296931C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile1064Phe	rs147911658	missense variant	-	NC_000022.11:g.36296925T>A	ESP,ExAC,gnomAD
MYH9	P35579	p.Ala1065Thr	rs1423642805	missense variant	-	NC_000022.11:g.36296922C>T	gnomAD
MYH9	P35579	p.Glu1066_Ala1072del	VAR_044228	inframe_deletion	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]	-	UniProt
MYH9	P35579	p.Gln1070His	rs1201940713	missense variant	-	NC_000022.11:g.36296905C>A	gnomAD
MYH9	P35579	p.Ala1072Thr	RCV000213761	missense variant	-	NC_000022.11:g.36296901C>T	ClinVar
MYH9	P35579	p.Ala1072Val	rs1556631812	missense variant	-	NC_000022.11:g.36296900G>A	-
MYH9	P35579	p.Ala1072Thr	rs532156048	missense variant	-	NC_000022.11:g.36296901C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1072Val	RCV000609396	missense variant	-	NC_000022.11:g.36296900G>A	ClinVar
MYH9	P35579	p.Lys1075Glu	rs1372257019	missense variant	-	NC_000022.11:g.36296892T>C	gnomAD
MYH9	P35579	p.Lys1075Arg	rs1408801802	missense variant	-	NC_000022.11:g.36296891T>C	gnomAD
MYH9	P35579	p.Met1076Ile	rs749228893	missense variant	-	NC_000022.11:g.36296887C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1077Glu	rs1444773585	missense variant	-	NC_000022.11:g.36296886G>C	gnomAD
MYH9	P35579	p.Ala1088Thr	rs1178789950	missense variant	-	NC_000022.11:g.36296853C>T	TOPMed,gnomAD
MYH9	P35579	p.Ala1088Val	rs781510274	missense variant	-	NC_000022.11:g.36296852G>A	ExAC,gnomAD
MYH9	P35579	p.Ala1090Ser	rs757376268	missense variant	-	NC_000022.11:g.36296847C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1090Asp	rs1176433838	missense variant	-	NC_000022.11:g.36296846G>T	gnomAD
MYH9	P35579	p.Arg1091Gly	rs1171062797	missense variant	-	NC_000022.11:g.36296844T>C	TOPMed
MYH9	P35579	p.Arg1091Ser	rs758742337	missense variant	-	NC_000022.11:g.36295717T>G	ExAC,gnomAD
MYH9	P35579	p.Val1092Met	rs748470952	missense variant	-	NC_000022.11:g.36295716C>T	ExAC,gnomAD
MYH9	P35579	p.Val1092Ala	rs1314994311	missense variant	-	NC_000022.11:g.36295715A>G	gnomAD
MYH9	P35579	p.Val1092Gly	rs1314994311	missense variant	-	NC_000022.11:g.36295715A>C	gnomAD
MYH9	P35579	p.Glu1094Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36295710C>G	NCI-TCGA
MYH9	P35579	p.Glu1094Asp	rs1200330335	missense variant	-	NC_000022.11:g.36295708C>G	TOPMed
MYH9	P35579	p.Ala1096Val	rs755381871	missense variant	-	NC_000022.11:g.36295703G>A	ExAC,gnomAD
MYH9	P35579	p.Ala1097Asp	rs766927990	missense variant	-	NC_000022.11:g.36295700G>T	ExAC,gnomAD
MYH9	P35579	p.Met1101Ile	rs1162561119	missense variant	-	NC_000022.11:g.36295687C>T	gnomAD
MYH9	P35579	p.Ala1102Val	rs1173949966	missense variant	-	NC_000022.11:g.36295685G>A	TOPMed
MYH9	P35579	p.Lys1104Arg	rs1358412751	missense variant	-	NC_000022.11:g.36295679T>C	TOPMed
MYH9	P35579	p.Ile1106Val	rs1456021815	missense variant	-	NC_000022.11:g.36295674T>C	gnomAD
MYH9	P35579	p.Ile1106Thr	rs757024922	missense variant	-	NC_000022.11:g.36295673A>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1107Gln	RCV000360226	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36295670C>T	ClinVar
MYH9	P35579	p.Arg1107Gln	RCV000324164	missense variant	MYH9-related disorder	NC_000022.11:g.36295670C>T	ClinVar
MYH9	P35579	p.Arg1107Gln	rs137924205	missense variant	-	NC_000022.11:g.36295670C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1107Trp	rs1164923293	missense variant	-	NC_000022.11:g.36295671G>A	gnomAD
MYH9	P35579	p.Glu1108Gly	rs1261023056	missense variant	-	NC_000022.11:g.36295667T>C	gnomAD
MYH9	P35579	p.Glu1108Ala	rs1261023056	missense variant	-	NC_000022.11:g.36295667T>G	gnomAD
MYH9	P35579	p.Glu1108Gln	rs1036053672	missense variant	-	NC_000022.11:g.36295668C>G	TOPMed,gnomAD
MYH9	P35579	p.Ser1111ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36295636_36295660TTCCTGGAGTTCAGAGATCTGAGAT>-	NCI-TCGA
MYH9	P35579	p.Ser1114Cys	COSM3842602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36295649G>C	NCI-TCGA Cosmic
MYH9	P35579	p.Ser1114Pro	RCV000767070	missense variant	-	NC_000022.11:g.36295650A>G	ClinVar
MYH9	P35579	p.Ser1114Pro	rs200901330	missense variant	-	NC_000022.11:g.36295650A>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1114Pro	rs200901330	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295650A>G	UniProt,dbSNP
MYH9	P35579	p.Ser1114Pro	VAR_018312	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295650A>G	UniProt
MYH9	P35579	p.Glu1115Lys	COSM3553944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36295647C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Arg1124His	rs765237081	missense variant	-	NC_000022.11:g.36295619C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1124Cys	rs1207813150	missense variant	-	NC_000022.11:g.36295620G>A	gnomAD
MYH9	P35579	p.Arg1124His	RCV000312584	missense variant	MYH9-related disorder	NC_000022.11:g.36295619C>T	ClinVar
MYH9	P35579	p.Arg1124His	RCV000367303	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36295619C>T	ClinVar
MYH9	P35579	p.Ser1126Cys	rs759328593	missense variant	-	NC_000022.11:g.36295613G>C	ExAC,gnomAD
MYH9	P35579	p.Glu1131Asp	rs747282820	missense variant	-	NC_000022.11:g.36295597C>A	ExAC,gnomAD
MYH9	P35579	p.Glu1131Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36295598T>A	NCI-TCGA
MYH9	P35579	p.Glu1131Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36295599C>G	NCI-TCGA
MYH9	P35579	p.Glu1131Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36295599C>T	NCI-TCGA
MYH9	P35579	p.Lys1132Arg	rs1341552420	missense variant	-	NC_000022.11:g.36295595T>C	gnomAD
MYH9	P35579	p.Gln1133Glu	RCV000601770	missense variant	-	NC_000022.11:g.36295593G>C	ClinVar
MYH9	P35579	p.Gln1133Glu	rs368797590	missense variant	-	NC_000022.11:g.36295593G>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1134Gln	rs200604312	missense variant	-	NC_000022.11:g.36295590T>G	ExAC,gnomAD
MYH9	P35579	p.Arg1135Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36295586C>T	NCI-TCGA
MYH9	P35579	p.Ala1143Val	rs1004670927	missense variant	-	NC_000022.11:g.36295562G>A	TOPMed,gnomAD
MYH9	P35579	p.Thr1146Arg	rs543021127	missense variant	-	NC_000022.11:g.36295553G>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr1146Ala	rs769272157	missense variant	-	NC_000022.11:g.36295554T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1150Tyr	COSM4832758	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36295542C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Thr1151Met	rs375081687	missense variant	-	NC_000022.11:g.36295538G>A	ESP,TOPMed,gnomAD
MYH9	P35579	p.Asp1153Asn	rs1210601633	missense variant	-	NC_000022.11:g.36295533C>T	gnomAD
MYH9	P35579	p.Asp1153Glu	rs1457384793	missense variant	-	NC_000022.11:g.36295531A>T	gnomAD
MYH9	P35579	p.Thr1155Ile	RCV000015124	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295526G>A	ClinVar
MYH9	P35579	p.Thr1155Ile	rs121913656	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295526G>A	UniProt,dbSNP
MYH9	P35579	p.Thr1155Ile	VAR_010794	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295526G>A	UniProt
MYH9	P35579	p.Thr1155Ile	rs121913656	missense variant	-	NC_000022.11:g.36295526G>A	-
MYH9	P35579	p.Arg1162Lys	rs777594273	missense variant	-	NC_000022.11:g.36295505C>T	ExAC,gnomAD
MYH9	P35579	p.Ser1163Ala	rs551271617	missense variant	-	NC_000022.11:g.36295075A>C	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Arg1165Cys	RCV000015121	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295069G>A	ClinVar
MYH9	P35579	p.Arg1165Leu	RCV000032221	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295068C>A	ClinVar
MYH9	P35579	p.Arg1165Cys	rs80338829	missense variant	-	NC_000022.11:g.36295069G>A	-
MYH9	P35579	p.Arg1165Cys	rs80338829	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295069G>A	UniProt,dbSNP
MYH9	P35579	p.Arg1165Cys	VAR_010795	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295069G>A	UniProt
MYH9	P35579	p.Arg1165Leu	rs80338830	missense variant	-	NC_000022.11:g.36295068C>A	-
MYH9	P35579	p.Arg1165Leu	rs80338830	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295068C>A	UniProt,dbSNP
MYH9	P35579	p.Arg1165Leu	VAR_018313	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295068C>A	UniProt
MYH9	P35579	p.Arg1165Cys	RCV000790357	missense variant	MYH9-related disorder	NC_000022.11:g.36295069G>A	ClinVar
MYH9	P35579	p.Ile1171Met	rs774401980	missense variant	-	NC_000022.11:g.36295049G>C	ExAC,gnomAD
MYH9	P35579	p.Lys1174Glu	rs1362302544	missense variant	-	NC_000022.11:g.36295042T>C	gnomAD
MYH9	P35579	p.Glu1177Asp	rs531661503	missense variant	-	NC_000022.11:g.36295031C>G	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Glu1178Lys	rs1351881642	missense variant	-	NC_000022.11:g.36295030C>T	TOPMed,gnomAD
MYH9	P35579	p.Glu1178Gln	rs1351881642	missense variant	-	NC_000022.11:g.36295030C>G	TOPMed,gnomAD
MYH9	P35579	p.Ala1180Ser	rs1287737856	missense variant	-	NC_000022.11:g.36295024C>A	gnomAD
MYH9	P35579	p.Lys1181Arg	rs1279964083	missense variant	-	NC_000022.11:g.36295020T>C	TOPMed
MYH9	P35579	p.Thr1182Ile	rs1355075179	missense variant	-	NC_000022.11:g.36295017G>A	gnomAD
MYH9	P35579	p.Glu1184Lys	rs1281960330	missense variant	-	NC_000022.11:g.36295012C>T	gnomAD
MYH9	P35579	p.Ala1185Ser	rs994672511	missense variant	-	NC_000022.11:g.36295009C>A	TOPMed
MYH9	P35579	p.Ala1185Val	rs199800916	missense variant	-	NC_000022.11:g.36295008G>A	1000Genomes,TOPMed,gnomAD
MYH9	P35579	p.Ala1185Gly	rs199800916	missense variant	-	NC_000022.11:g.36295008G>C	1000Genomes,TOPMed,gnomAD
MYH9	P35579	p.His1194Gln	rs1397918124	missense variant	-	NC_000022.11:g.36294980G>C	gnomAD
MYH9	P35579	p.Gln1196Ter	COSM1033841	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36294976G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Gln1196Glu	rs1228197720	missense variant	-	NC_000022.11:g.36294976G>C	gnomAD
MYH9	P35579	p.Val1198Met	rs200732002	missense variant	-	NC_000022.11:g.36294970C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1199Asp	COSM726453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36294965C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1199Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36294967C>A	NCI-TCGA
MYH9	P35579	p.Glu1199Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36294966T>A	NCI-TCGA
MYH9	P35579	p.Glu1200Asp	rs1178604127	missense variant	-	NC_000022.11:g.36294962C>A	TOPMed
MYH9	P35579	p.Glu1200Ter	rs1235014094	stop gained	-	NC_000022.11:g.36294964C>A	TOPMed
MYH9	P35579	p.Glu1200Val	rs1438334482	missense variant	-	NC_000022.11:g.36294963T>A	TOPMed
MYH9	P35579	p.Ala1202Val	RCV000337020	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36294957G>A	ClinVar
MYH9	P35579	p.Ala1202Val	RCV000281921	missense variant	MYH9-related disorder	NC_000022.11:g.36294957G>A	ClinVar
MYH9	P35579	p.Ala1202Val	rs772915368	missense variant	-	NC_000022.11:g.36294957G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1205Met	rs998865732	missense variant	-	NC_000022.11:g.36294949G>T	TOPMed
MYH9	P35579	p.Leu1205_Gln1207del	VAR_018314	inframe_deletion	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]	-	UniProt
MYH9	P35579	p.Gln1207Ter	COSM1416049	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36294943G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Gln1207Lys	rs754599035	missense variant	-	NC_000022.11:g.36294943G>T	ExAC,gnomAD
MYH9	P35579	p.Gln1207Glu	rs754599035	missense variant	-	NC_000022.11:g.36294943G>C	ExAC,gnomAD
MYH9	P35579	p.Thr1208Met	rs201153545	missense variant	-	NC_000022.11:g.36294939G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1209Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36294937T>C	NCI-TCGA
MYH9	P35579	p.Arg1210Gln	rs368114068	missense variant	-	NC_000022.11:g.36294933C>T	ESP,ExAC,gnomAD
MYH9	P35579	p.Ala1213Gly	RCV000287071	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36294291G>C	ClinVar
MYH9	P35579	p.Ala1213Thr	rs1330818840	missense variant	-	NC_000022.11:g.36294292C>T	gnomAD
MYH9	P35579	p.Ala1213Gly	RCV000381419	missense variant	MYH9-related disorder	NC_000022.11:g.36294291G>C	ClinVar
MYH9	P35579	p.Ala1213Gly	rs886057481	missense variant	-	NC_000022.11:g.36294291G>C	TOPMed,gnomAD
MYH9	P35579	p.Ala1218Val	rs373722926	missense variant	-	NC_000022.11:g.36294276G>A	ESP,TOPMed,gnomAD
MYH9	P35579	p.Ala1218Gly	rs373722926	missense variant	-	NC_000022.11:g.36294276G>C	ESP,TOPMed,gnomAD
MYH9	P35579	p.Gln1220His	rs1255970455	missense variant	-	NC_000022.11:g.36294269C>G	TOPMed
MYH9	P35579	p.Gln1220Leu	rs766799761	missense variant	-	NC_000022.11:g.36294270T>A	ExAC,gnomAD
MYH9	P35579	p.Glu1223Ter	COSM3553942	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36294262C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1223Lys	rs773790950	missense variant	-	NC_000022.11:g.36294262C>T	ExAC,gnomAD
MYH9	P35579	p.Asn1224Lys	rs148258578	missense variant	-	NC_000022.11:g.36294257G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1225Gln	rs770864107	missense variant	-	NC_000022.11:g.36294256C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1225Lys	rs770864107	missense variant	-	NC_000022.11:g.36294256C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1226Gln	RCV000326885	missense variant	MYH9-related disorder	NC_000022.11:g.36294252C>T	ClinVar
MYH9	P35579	p.Arg1226Gln	RCV000271817	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36294252C>T	ClinVar
MYH9	P35579	p.Arg1226Leu	rs200697030	missense variant	-	NC_000022.11:g.36294252C>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1226Trp	rs375797448	missense variant	-	NC_000022.11:g.36294253G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1226Gln	rs200697030	missense variant	-	NC_000022.11:g.36294252C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gly1227Glu	rs1168956728	missense variant	-	NC_000022.11:g.36294249C>T	TOPMed
MYH9	P35579	p.Glu1228SerPheSerTerUnk	COSM3149605	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36294247C>-	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1228Lys	RCV000754552	missense variant	-	NC_000022.11:g.36294247C>T	ClinVar
MYH9	P35579	p.Glu1228Lys	rs746956415	missense variant	-	NC_000022.11:g.36294247C>T	ExAC,gnomAD
MYH9	P35579	p.Ala1230Thr	rs1037740278	missense variant	-	NC_000022.11:g.36294241C>T	TOPMed,gnomAD
MYH9	P35579	p.Glu1232Asp	rs1308791415	missense variant	-	NC_000022.11:g.36294233C>G	gnomAD
MYH9	P35579	p.Glu1232Lys	RCV000722495	missense variant	-	NC_000022.11:g.36294235C>T	ClinVar
MYH9	P35579	p.Val1233Met	RCV000213533	missense variant	-	NC_000022.11:g.36294232C>T	ClinVar
MYH9	P35579	p.Val1233Met	rs542791128	missense variant	-	NC_000022.11:g.36294232C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1234Arg	rs544801273	missense variant	-	NC_000022.11:g.36294228T>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1242Asn	rs1406322860	missense variant	-	NC_000022.11:g.36294205C>T	gnomAD
MYH9	P35579	p.Ser1243Leu	rs959272684	missense variant	-	NC_000022.11:g.36294201G>A	gnomAD
MYH9	P35579	p.His1245Tyr	rs1441031662	missense variant	-	NC_000022.11:g.36294196G>A	gnomAD
MYH9	P35579	p.Arg1247Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36294189C>G	NCI-TCGA
MYH9	P35579	p.Arg1247Cys	rs750911335	missense variant	-	NC_000022.11:g.36294190G>A	ExAC,gnomAD
MYH9	P35579	p.Arg1247His	rs767868271	missense variant	-	NC_000022.11:g.36294189C>T	ExAC,gnomAD
MYH9	P35579	p.Lys1248Glu	rs1276028189	missense variant	-	NC_000022.11:g.36294187T>C	TOPMed
MYH9	P35579	p.Lys1248Glu	RCV000723104	missense variant	-	NC_000022.11:g.36294187T>C	ClinVar
MYH9	P35579	p.Val1250Ala	rs776779785	missense variant	-	NC_000022.11:g.36294180A>G	gnomAD
MYH9	P35579	p.Val1250Leu	rs774921084	missense variant	-	NC_000022.11:g.36294181C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1252Thr	rs769439120	missense variant	-	NC_000022.11:g.36294175C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1252Val	rs759187934	missense variant	-	NC_000022.11:g.36294174G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1253Pro	COSM726454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36294171T>G	NCI-TCGA Cosmic
MYH9	P35579	p.Leu1257Val	rs1156748427	missense variant	-	NC_000022.11:g.36294160G>C	TOPMed,gnomAD
MYH9	P35579	p.Gln1258Arg	rs977273457	missense variant	-	NC_000022.11:g.36294156T>C	TOPMed
MYH9	P35579	p.Val1259Gly	rs1415797822	missense variant	-	NC_000022.11:g.36294153A>C	gnomAD
MYH9	P35579	p.Asn1262Lys	rs192365600	missense variant	-	NC_000022.11:g.36294143G>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn1262Asp	rs777798216	missense variant	-	NC_000022.11:g.36294145T>C	ExAC,gnomAD
MYH9	P35579	p.Asn1262Ser	rs138270050	missense variant	-	NC_000022.11:g.36294144T>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1263Lys	rs1163525582	missense variant	-	NC_000022.11:g.36294142C>T	TOPMed,gnomAD
MYH9	P35579	p.Gly1264Arg	rs969169357	missense variant	-	NC_000022.11:g.36294139C>T	TOPMed
MYH9	P35579	p.Gly1264Glu	rs1421535397	missense variant	-	NC_000022.11:g.36294138C>T	gnomAD
MYH9	P35579	p.Glu1265Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36294134C>A	NCI-TCGA
MYH9	P35579	p.Arg1266His	rs375738970	missense variant	-	NC_000022.11:g.36294132C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1266Cys	rs755308451	missense variant	-	NC_000022.11:g.36294133G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val1267Met	rs756528783	missense variant	-	NC_000022.11:g.36294130C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1268Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36294126C>A	NCI-TCGA
MYH9	P35579	p.Arg1268His	rs768022369	missense variant	-	NC_000022.11:g.36294126C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1268Cys	rs750701311	missense variant	-	NC_000022.11:g.36294127G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr1269Ile	rs1319942790	missense variant	-	NC_000022.11:g.36294123G>A	gnomAD
MYH9	P35579	p.Thr1269Ala	rs1244168341	missense variant	-	NC_000022.11:g.36294124T>C	TOPMed,gnomAD
MYH9	P35579	p.Ala1272Thr	rs562063811	missense variant	-	NC_000022.11:g.36294115C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Ala1272Val	rs1234398262	missense variant	-	NC_000022.11:g.36294114G>A	gnomAD
MYH9	P35579	p.Asp1273His	rs147031322	missense variant	-	NC_000022.11:g.36294112C>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1273Asn	rs147031322	missense variant	-	NC_000022.11:g.36294112C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1274Glu	rs776320326	missense variant	-	NC_000022.11:g.36294109T>C	ExAC,gnomAD
MYH9	P35579	p.Thr1276Pro	rs1276440350	missense variant	-	NC_000022.11:g.36294103T>G	TOPMed
MYH9	P35579	p.Lys1277Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36294100T>A	NCI-TCGA
MYH9	P35579	p.Gln1279Arg	rs1365379816	missense variant	-	NC_000022.11:g.36294093T>C	TOPMed
MYH9	P35579	p.Val1280Leu	rs141582478	missense variant	-	NC_000022.11:g.36293863C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val1280Met	rs141582478	missense variant	-	NC_000022.11:g.36293863C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val1280Leu	rs141582478	missense variant	-	NC_000022.11:g.36293863C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1282Val	rs768666026	missense variant	-	NC_000022.11:g.36293857G>C	ExAC,gnomAD
MYH9	P35579	p.Asn1284Asp	rs1316452838	missense variant	-	NC_000022.11:g.36293851T>C	TOPMed
MYH9	P35579	p.Asn1284Ser	rs749399694	missense variant	-	NC_000022.11:g.36293850T>C	ExAC,gnomAD
MYH9	P35579	p.Val1285Met	rs770119352	missense variant	-	NC_000022.11:g.36293848C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gly1287Arg	rs781586533	missense variant	-	NC_000022.11:g.36293842C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1290Asn	rs757588156	missense variant	-	NC_000022.11:g.36293832C>T	ExAC,gnomAD
MYH9	P35579	p.Ser1290Gly	rs1174428350	missense variant	-	NC_000022.11:g.36293833T>C	gnomAD
MYH9	P35579	p.Asp1293Glu	rs758776969	missense variant	-	NC_000022.11:g.36293822G>C	ExAC,gnomAD
MYH9	P35579	p.Asp1293Asn	rs778278736	missense variant	-	NC_000022.11:g.36293824C>T	ExAC,gnomAD
MYH9	P35579	p.Asp1293His	rs778278736	missense variant	-	NC_000022.11:g.36293824C>G	ExAC,gnomAD
MYH9	P35579	p.Ser1294Asn	COSM1416047	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36293820C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Lys1295Arg	rs886057480	missense variant	-	NC_000022.11:g.36293817T>C	-
MYH9	P35579	p.Lys1295Asn	rs750947814	missense variant	-	NC_000022.11:g.36293816C>A	ExAC,gnomAD
MYH9	P35579	p.Lys1295Arg	RCV000354932	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36293817T>C	ClinVar
MYH9	P35579	p.Lys1295Arg	RCV000300109	missense variant	MYH9-related disorder	NC_000022.11:g.36293817T>C	ClinVar
MYH9	P35579	p.Ser1296Thr	rs1350431268	missense variant	-	NC_000022.11:g.36293815A>T	gnomAD
MYH9	P35579	p.Ser1296Tyr	rs866606224	missense variant	-	NC_000022.11:g.36293814G>T	gnomAD
MYH9	P35579	p.Ser1297Arg	rs1351011634	missense variant	-	NC_000022.11:g.36293810G>C	gnomAD
MYH9	P35579	p.Ser1297Asn	rs779428678	missense variant	-	NC_000022.11:g.36293811C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1297Ile	rs779428678	missense variant	-	NC_000022.11:g.36293811C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1298Asn	rs755837040	missense variant	-	NC_000022.11:g.36293807C>A	ExAC,gnomAD
MYH9	P35579	p.Thr1300Ala	rs1339876100	missense variant	-	NC_000022.11:g.36293803T>C	TOPMed,gnomAD
MYH9	P35579	p.Lys1301Asn	RCV000220609	missense variant	-	NC_000022.11:g.36293798C>G	ClinVar
MYH9	P35579	p.Lys1301Asn	rs767235227	missense variant	-	NC_000022.11:g.36293798C>G	ExAC,gnomAD
MYH9	P35579	p.Lys1301Glu	rs1264986897	missense variant	-	NC_000022.11:g.36293800T>C	TOPMed
MYH9	P35579	p.Asp1302Glu	rs1375778244	missense variant	-	NC_000022.11:g.36293795G>C	TOPMed,gnomAD
MYH9	P35579	p.Asp1302Tyr	rs951591806	missense variant	-	NC_000022.11:g.36293797C>A	TOPMed
MYH9	P35579	p.Phe1303Leu	rs1313746800	missense variant	-	NC_000022.11:g.36293792G>T	TOPMed,gnomAD
MYH9	P35579	p.Ser1304Phe	rs371416304	missense variant	-	NC_000022.11:g.36293790G>A	ESP
MYH9	P35579	p.Ala1305Gly	rs141904682	missense variant	-	NC_000022.11:g.36293787G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1305Thr	rs372780340	missense variant	-	NC_000022.11:g.36293788C>T	ExAC,gnomAD
MYH9	P35579	p.Ala1305Val	rs141904682	missense variant	-	NC_000022.11:g.36293787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1308Phe	rs1368404364	missense variant	-	NC_000022.11:g.36293778G>A	gnomAD
MYH9	P35579	p.Thr1313Ile	rs1025888183	missense variant	-	NC_000022.11:g.36293763G>A	TOPMed,gnomAD
MYH9	P35579	p.Glu1319Ala	rs1395865423	missense variant	-	NC_000022.11:g.36293468T>G	gnomAD
MYH9	P35579	p.Glu1320Asp	COSM262226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36293464C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1320Gly	rs1408599841	missense variant	-	NC_000022.11:g.36293465T>C	gnomAD
MYH9	P35579	p.Arg1322Gln	rs1477519000	missense variant	-	NC_000022.11:g.36293459C>T	gnomAD
MYH9	P35579	p.Arg1322Trp	rs201269631	missense variant	-	NC_000022.11:g.36293460G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1323Arg	rs937625252	missense variant	-	NC_000022.11:g.36293456T>C	TOPMed
MYH9	P35579	p.Lys1332Gln	rs745376621	missense variant	-	NC_000022.11:g.36293430T>G	ExAC,gnomAD
MYH9	P35579	p.Glu1337Lys	rs1038334022	missense variant	-	NC_000022.11:g.36293415C>T	gnomAD
MYH9	P35579	p.Ser1340Thr	COSM6161836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36293406A>T	NCI-TCGA Cosmic
MYH9	P35579	p.Ser1340Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36293406A>G	NCI-TCGA
MYH9	P35579	p.Phe1341Ser	RCV000494660	missense variant	-	NC_000022.11:g.36293402A>G	ClinVar
MYH9	P35579	p.Phe1341Ser	rs1131691639	missense variant	-	NC_000022.11:g.36293402A>G	TOPMed,gnomAD
MYH9	P35579	p.Arg1342Gln	RCV000408217	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36293399C>T	ClinVar
MYH9	P35579	p.Arg1342Gln	RCV000285049	missense variant	MYH9-related disorder	NC_000022.11:g.36293399C>T	ClinVar
MYH9	P35579	p.Arg1342Trp	RCV000597934	missense variant	-	NC_000022.11:g.36293400G>A	ClinVar
MYH9	P35579	p.Arg1342Trp	rs147901502	missense variant	-	NC_000022.11:g.36293400G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1342Gln	rs758159686	missense variant	-	NC_000022.11:g.36293399C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1347Lys	rs765101192	missense variant	-	NC_000022.11:g.36293385C>T	ExAC,gnomAD
MYH9	P35579	p.Glu1349Lys	rs754846885	missense variant	-	NC_000022.11:g.36293379C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1350Asp	RCV000222927	missense variant	-	NC_000022.11:g.36293374C>G	ClinVar
MYH9	P35579	p.Glu1350Asp	rs375955867	missense variant	-	NC_000022.11:g.36293374C>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1351Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36293373C>G	NCI-TCGA
MYH9	P35579	p.Ala1351Gly	rs766437086	missense variant	-	NC_000022.11:g.36293372G>C	ExAC
MYH9	P35579	p.Ala1351Thr	rs1175064006	missense variant	-	NC_000022.11:g.36293373C>T	gnomAD
MYH9	P35579	p.Lys1352Arg	rs760925312	missense variant	-	NC_000022.11:g.36293369T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1360Thr	rs569649580	missense variant	-	NC_000022.11:g.36293346C>T	TOPMed,gnomAD
MYH9	P35579	p.Ala1360Gly	rs373384951	missense variant	-	NC_000022.11:g.36293345G>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1362Phe	rs1278490017	missense variant	-	NC_000022.11:g.36293340G>A	gnomAD
MYH9	P35579	p.His1363Tyr	rs1238726807	missense variant	-	NC_000022.11:g.36293337G>A	TOPMed
MYH9	P35579	p.Val1366Met	rs1415779926	missense variant	-	NC_000022.11:g.36292234C>T	TOPMed,gnomAD
MYH9	P35579	p.Ala1367Asp	rs774636106	missense variant	-	NC_000022.11:g.36292230G>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1367Val	rs774636106	missense variant	-	NC_000022.11:g.36292230G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1368Asn	rs776174061	missense variant	-	NC_000022.11:g.36292228C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1368Tyr	rs776174061	missense variant	-	NC_000022.11:g.36292228C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met1369Val	rs368982363	missense variant	-	NC_000022.11:g.36292225T>C	ESP,gnomAD
MYH9	P35579	p.Lys1371Glu	rs770377517	missense variant	-	NC_000022.11:g.36292219T>C	ExAC,gnomAD
MYH9	P35579	p.Lys1371Arg	rs1419920797	missense variant	-	NC_000022.11:g.36292218T>C	gnomAD
MYH9	P35579	p.Met1373Val	rs1216109956	missense variant	-	NC_000022.11:g.36292213T>C	TOPMed
MYH9	P35579	p.Met1373Ile	rs200894704	missense variant	-	NC_000022.11:g.36292211C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1375His	rs202033925	missense variant	-	NC_000022.11:g.36292207C>G	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Ser1376Arg	COSM1033840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36292202A>C	NCI-TCGA Cosmic
MYH9	P35579	p.Ser1376Gly	RCV000287475	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36292204T>C	ClinVar
MYH9	P35579	p.Ser1376Thr	rs1184951793	missense variant	-	NC_000022.11:g.36292203C>G	TOPMed,gnomAD
MYH9	P35579	p.Ser1376Gly	rs771692651	missense variant	-	NC_000022.11:g.36292204T>C	ExAC,gnomAD
MYH9	P35579	p.Ser1376Gly	RCV000342403	missense variant	MYH9-related disorder	NC_000022.11:g.36292204T>C	ClinVar
MYH9	P35579	p.Gly1378Trp	rs778732146	missense variant	-	NC_000022.11:g.36292198C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Cys1379Tyr	rs768412470	missense variant	-	NC_000022.11:g.36292194C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1381Ala	rs574458172	missense variant	-	NC_000022.11:g.36292188T>G	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Thr1382Ala	rs779975795	missense variant	-	NC_000022.11:g.36292186T>C	ExAC,gnomAD
MYH9	P35579	p.Ala1383Val	rs1234301791	missense variant	-	NC_000022.11:g.36292182G>A	gnomAD
MYH9	P35579	p.Glu1384Gln	rs200616409	missense variant	-	NC_000022.11:g.36292180C>G	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1384Gln	RCV000332817	missense variant	-	NC_000022.11:g.36292180C>G	ClinVar
MYH9	P35579	p.Glu1385Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36292177C>G	NCI-TCGA
MYH9	P35579	p.Glu1385Lys	rs1175227715	missense variant	-	NC_000022.11:g.36292177C>T	TOPMed
MYH9	P35579	p.Glu1385Gly	rs750534869	missense variant	-	NC_000022.11:g.36292176T>C	ExAC,gnomAD
MYH9	P35579	p.Val1386Ala	rs781318252	missense variant	-	NC_000022.11:g.36292173A>G	ExAC,gnomAD
MYH9	P35579	p.Arg1388Trp	rs757468108	missense variant	-	NC_000022.11:g.36292168T>A	ExAC,gnomAD
MYH9	P35579	p.Lys1389Gln	COSM1327248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36292165T>G	NCI-TCGA Cosmic
MYH9	P35579	p.Lys1392Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36292154C>G	NCI-TCGA
MYH9	P35579	p.Asp1393Tyr	rs534834747	missense variant	-	NC_000022.11:g.36292153C>A	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Asp1393Glu	rs727504829	missense variant	-	NC_000022.11:g.36292151G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1393Glu	RCV000156169	missense variant	-	NC_000022.11:g.36292151G>C	ClinVar
MYH9	P35579	p.Ser1398Arg	rs1371089733	missense variant	-	NC_000022.11:g.36292136G>T	gnomAD
MYH9	P35579	p.Arg1400Leu	rs771591274	missense variant	-	NC_000022.11:g.36292131C>A	ExAC,gnomAD
MYH9	P35579	p.Arg1400Gln	rs771591274	missense variant	-	NC_000022.11:g.36292131C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1400Trp	rs76368635	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292132G>A	UniProt,dbSNP
MYH9	P35579	p.Arg1400Trp	VAR_018315	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292132G>A	UniProt
MYH9	P35579	p.Arg1400Trp	rs76368635	missense variant	-	NC_000022.11:g.36292132G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1400Trp	RCV000037559	missense variant	-	NC_000022.11:g.36292132G>A	ClinVar
MYH9	P35579	p.His1401Tyr	rs116972183	missense variant	-	NC_000022.11:g.36292129G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.His1401Gln	rs539186034	missense variant	-	NC_000022.11:g.36292127G>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1402Lys	rs1439574314	missense variant	-	NC_000022.11:g.36292126C>T	TOPMed
MYH9	P35579	p.Val1405Met	rs1255465286	missense variant	-	NC_000022.11:g.36292117C>T	gnomAD
MYH9	P35579	p.Ala1407Val	COSM1416044	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36292110G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ala1407Thr	rs199639878	missense variant	-	NC_000022.11:g.36292111C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Tyr1408His	rs1271789474	missense variant	-	NC_000022.11:g.36292108A>G	TOPMed
MYH9	P35579	p.Asp1409Asn	RCV000151333	missense variant	-	NC_000022.11:g.36292105C>T	ClinVar
MYH9	P35579	p.Asp1409Asn	rs34292387	missense variant	-	NC_000022.11:g.36292105C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1411Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36292098A>G	NCI-TCGA
MYH9	P35579	p.Lys1413Arg	rs1438096415	missense variant	-	NC_000022.11:g.36292092T>C	gnomAD
MYH9	P35579	p.Thr1416Met	rs758626716	missense variant	-	NC_000022.11:g.36292083G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr1416Met	RCV000216020	missense variant	-	NC_000022.11:g.36292083G>A	ClinVar
MYH9	P35579	p.Arg1417Gln	COSM726455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36292080C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Arg1417Trp	rs1394231995	missense variant	-	NC_000022.11:g.36292081G>A	gnomAD
MYH9	P35579	p.Leu1418Met	rs1169499284	missense variant	-	NC_000022.11:g.36292078G>T	gnomAD
MYH9	P35579	p.Gln1420Glu	rs200510675	missense variant	-	NC_000022.11:g.36292072G>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1420Lys	rs200510675	missense variant	-	NC_000022.11:g.36292072G>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1420Arg	rs1182960625	missense variant	-	NC_000022.11:g.36292071T>C	TOPMed,gnomAD
MYH9	P35579	p.Glu1421Lys	RCV000735759	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292069C>T	ClinVar
MYH9	P35579	p.Asp1423Tyr	rs146401386	missense variant	-	NC_000022.11:g.36292063C>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1424Asn	RCV000015134	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>T	ClinVar
MYH9	P35579	p.Asp1424Glu	rs1397006934	missense variant	-	NC_000022.11:g.36292058G>C	TOPMed,gnomAD
MYH9	P35579	p.Asp1424Tyr	RCV000790359	missense variant	MYH9-related disorder	NC_000022.11:g.36292060C>A	ClinVar
MYH9	P35579	p.Asp1424Tyr	RCV000032224	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>A	ClinVar
MYH9	P35579	p.Asp1424Asn	rs80338831	missense variant	-	NC_000022.11:g.36292060C>T	-
MYH9	P35579	p.Asp1424Asn	rs80338831	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>T	UniProt,dbSNP
MYH9	P35579	p.Asp1424Asn	VAR_018316	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>T	UniProt
MYH9	P35579	p.Asp1424Tyr	rs80338831	missense variant	-	NC_000022.11:g.36292060C>A	-
MYH9	P35579	p.Asp1424Tyr	rs80338831	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>A	UniProt,dbSNP
MYH9	P35579	p.Asp1424Tyr	VAR_018317	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>A	UniProt
MYH9	P35579	p.Asp1424Gly	rs867593888	missense variant	-	NC_000022.11:g.36292059T>C	-
MYH9	P35579	p.Asp1424His	RCV000032223	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>G	ClinVar
MYH9	P35579	p.Asp1424Asn	RCV000790358	missense variant	MYH9-related disorder	NC_000022.11:g.36292060C>T	ClinVar
MYH9	P35579	p.Asp1424His	rs80338831	missense variant	-	NC_000022.11:g.36292060C>G	-
MYH9	P35579	p.Asp1424His	rs80338831	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>G	UniProt,dbSNP
MYH9	P35579	p.Asp1424His	VAR_010796	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>G	UniProt
MYH9	P35579	p.Asp1424Gly	RCV000852126	missense variant	MYH9-related disorder	NC_000022.11:g.36292059T>C	ClinVar
MYH9	P35579	p.Asp1424Gly	RCV000626824	missense variant	Obesity (EO Obesity)	NC_000022.11:g.36292059T>C	ClinVar
MYH9	P35579	p.Leu1425Arg	rs766759099	missense variant	-	NC_000022.11:g.36292056A>C	ExAC,gnomAD
MYH9	P35579	p.Asp1428Glu	rs1307019542	missense variant	-	NC_000022.11:g.36292046G>C	TOPMed
MYH9	P35579	p.Leu1429Gln	rs1020928181	missense variant	-	NC_000022.11:g.36292044A>T	TOPMed
MYH9	P35579	p.Asp1430Gly	rs1249032059	missense variant	-	NC_000022.11:g.36292041T>C	gnomAD
MYH9	P35579	p.Asp1430His	rs1437823700	missense variant	-	NC_000022.11:g.36292042C>G	gnomAD
MYH9	P35579	p.Gln1432Glu	rs1375723216	missense variant	-	NC_000022.11:g.36292036G>C	TOPMed
MYH9	P35579	p.Arg1433His	RCV000584865	missense variant	-	NC_000022.11:g.36292032C>T	ClinVar
MYH9	P35579	p.Arg1433Cys	rs727503286	missense variant	-	NC_000022.11:g.36292033G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1433His	rs530533580	missense variant	-	NC_000022.11:g.36292032C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Arg1433Leu	rs530533580	missense variant	-	NC_000022.11:g.36292032C>A	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Arg1433Cys	RCV000276612	missense variant	MYH9-related disorder	NC_000022.11:g.36292033G>A	ClinVar
MYH9	P35579	p.Arg1433Cys	RCV000331644	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36292033G>A	ClinVar
MYH9	P35579	p.Arg1433Cys	RCV000151332	missense variant	-	NC_000022.11:g.36292033G>A	ClinVar
MYH9	P35579	p.Gln1434His	rs143979758	missense variant	-	NC_000022.11:g.36292028C>G	ESP,TOPMed,gnomAD
MYH9	P35579	p.Ser1435Gly	RCV000730503	missense variant	-	NC_000022.11:g.36292027T>C	ClinVar
MYH9	P35579	p.Ala1436Thr	RCV000151331	missense variant	-	NC_000022.11:g.36292024C>T	ClinVar
MYH9	P35579	p.Ala1436Val	rs1303570125	missense variant	-	NC_000022.11:g.36292023G>A	TOPMed,gnomAD
MYH9	P35579	p.Ala1436Thr	rs373912645	missense variant	-	NC_000022.11:g.36292024C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1442AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36292004C>-	NCI-TCGA
MYH9	P35579	p.Lys1442Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36292005T>G	NCI-TCGA
MYH9	P35579	p.Lys1442Arg	rs776653786	missense variant	-	NC_000022.11:g.36292005T>C	ExAC,gnomAD
MYH9	P35579	p.Lys1444Arg	rs777996929	missense variant	-	NC_000022.11:g.36291999T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1444Gln	rs747090249	missense variant	-	NC_000022.11:g.36292000T>G	ExAC
MYH9	P35579	p.Lys1445Met	rs748363414	missense variant	-	NC_000022.11:g.36291996T>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1445Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36291996T>G	NCI-TCGA
MYH9	P35579	p.Lys1445Arg	rs748363414	missense variant	-	NC_000022.11:g.36291996T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1445Ter	rs1486787362	stop gained	-	NC_000022.11:g.36291997T>A	TOPMed
MYH9	P35579	p.Asp1447Val	RCV000790360	missense variant	MYH9-related disorder	NC_000022.11:g.36291990T>A	ClinVar
MYH9	P35579	p.Asp1447Val	rs797044804	missense variant	-	NC_000022.11:g.36291990T>A	-
MYH9	P35579	p.Ala1451Val	rs759107183	missense variant	-	NC_000022.11:g.36289290G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr1455Asn	rs1454757514	missense variant	-	NC_000022.11:g.36289278G>T	TOPMed
MYH9	P35579	p.Thr1455Ala	rs1163341884	missense variant	-	NC_000022.11:g.36289279T>C	gnomAD
MYH9	P35579	p.Ile1456Met	rs760738611	missense variant	-	NC_000022.11:g.36289274G>C	ExAC,gnomAD
MYH9	P35579	p.Ile1456Leu	rs1463372716	missense variant	-	NC_000022.11:g.36289276T>G	gnomAD
MYH9	P35579	p.Lys1459Asn	rs1335054853	missense variant	-	NC_000022.11:g.36289265C>G	TOPMed
MYH9	P35579	p.Glu1463Lys	rs1474253385	missense variant	-	NC_000022.11:g.36289255C>T	gnomAD
MYH9	P35579	p.Arg1464His	RCV000405444	missense variant	MYH9-related disorder	NC_000022.11:g.36289251C>T	ClinVar
MYH9	P35579	p.Arg1464His	RCV000308851	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36289251C>T	ClinVar
MYH9	P35579	p.Arg1464Cys	rs772088544	missense variant	-	NC_000022.11:g.36289252G>A	ExAC,gnomAD
MYH9	P35579	p.Arg1464His	rs199968414	missense variant	-	NC_000022.11:g.36289251C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1465Asn	rs201248264	missense variant	-	NC_000022.11:g.36289249C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1466Trp	rs139134727	missense variant	-	NC_000022.11:g.36289246G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1466Trp	RCV000151329	missense variant	-	NC_000022.11:g.36289246G>A	ClinVar
MYH9	P35579	p.Arg1466Gln	rs780507039	missense variant	-	NC_000022.11:g.36289245C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1467Thr	rs970919478	missense variant	-	NC_000022.11:g.36289243C>T	TOPMed,gnomAD
MYH9	P35579	p.Ala1467Pro	rs970919478	missense variant	-	NC_000022.11:g.36289243C>G	TOPMed,gnomAD
MYH9	P35579	p.Ala1467Ser	rs970919478	missense variant	-	NC_000022.11:g.36289243C>A	TOPMed,gnomAD
MYH9	P35579	p.Ala1469Val	rs557967677	missense variant	-	NC_000022.11:g.36289236G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1469Ser	rs1337772877	missense variant	-	NC_000022.11:g.36289237C>A	gnomAD
MYH9	P35579	p.Glu1470Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36289234C>G	NCI-TCGA
MYH9	P35579	p.Arg1472Gln	rs746179857	missense variant	-	NC_000022.11:g.36289227C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1474Arg	rs781672785	missense variant	-	NC_000022.11:g.36289221T>C	ExAC,gnomAD
MYH9	P35579	p.Glu1475Asp	rs757694730	missense variant	-	NC_000022.11:g.36289217C>G	ExAC,gnomAD
MYH9	P35579	p.Ser1480Leu	rs1244289150	missense variant	-	NC_000022.11:g.36289203G>A	TOPMed
MYH9	P35579	p.Arg1483Gln	RCV000151328	missense variant	-	NC_000022.11:g.36289194C>T	ClinVar
MYH9	P35579	p.Arg1483Gln	rs727503285	missense variant	-	NC_000022.11:g.36289194C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1483Trp	rs368105628	missense variant	-	NC_000022.11:g.36289195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1484Thr	rs1468906391	missense variant	-	NC_000022.11:g.36289192C>T	gnomAD
MYH9	P35579	p.Ala1484Gly	rs1232230216	missense variant	-	NC_000022.11:g.36289191G>C	gnomAD
MYH9	P35579	p.Leu1485Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36289188A>G	NCI-TCGA
MYH9	P35579	p.Met1489Ile	rs1229463076	missense variant	-	NC_000022.11:g.36289175C>T	gnomAD
MYH9	P35579	p.Gln1491Glu	rs1301411308	missense variant	-	NC_000022.11:g.36289171G>C	gnomAD
MYH9	P35579	p.Lys1492Glu	rs750188842	missense variant	-	NC_000022.11:g.36289168T>C	ExAC,gnomAD
MYH9	P35579	p.Lys1492Glu	RCV000352278	missense variant	MYH9-related disorder	NC_000022.11:g.36289168T>C	ClinVar
MYH9	P35579	p.Lys1492Glu	RCV000388129	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36289168T>C	ClinVar
MYH9	P35579	p.Ala1493Gly	rs371535403	missense variant	-	NC_000022.11:g.36289164G>C	TOPMed,gnomAD
MYH9	P35579	p.Ala1493Glu	rs371535403	missense variant	-	NC_000022.11:g.36289164G>T	TOPMed,gnomAD
MYH9	P35579	p.Ala1493Val	rs371535403	missense variant	-	NC_000022.11:g.36289164G>A	TOPMed,gnomAD
MYH9	P35579	p.Glu1496Ala	rs761638071	missense variant	-	NC_000022.11:g.36289155T>G	ExAC,gnomAD
MYH9	P35579	p.Glu1496Gln	rs1356604260	missense variant	-	NC_000022.11:g.36289156C>G	gnomAD
MYH9	P35579	p.Arg1497Gln	rs1373228814	missense variant	-	NC_000022.11:g.36289152C>T	gnomAD
MYH9	P35579	p.Arg1497Trp	rs1433769117	missense variant	-	NC_000022.11:g.36289153G>A	TOPMed,gnomAD
MYH9	P35579	p.Leu1498Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36289149A>C	NCI-TCGA
MYH9	P35579	p.Leu1498Phe	rs1175047471	missense variant	-	NC_000022.11:g.36289150G>A	gnomAD
MYH9	P35579	p.Asn1499Ser	rs962270462	missense variant	-	NC_000022.11:g.36289146T>C	TOPMed,gnomAD
MYH9	P35579	p.Arg1503Cys	rs138561532	missense variant	-	NC_000022.11:g.36289135G>A	ESP,TOPMed,gnomAD
MYH9	P35579	p.Arg1503His	rs549408311	missense variant	-	NC_000022.11:g.36289134C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr1504Met	rs150565890	missense variant	-	NC_000022.11:g.36289131G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1507Lys	rs566978904	missense variant	-	NC_000022.11:g.36289123C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Leu1509Phe	rs775597341	missense variant	-	NC_000022.11:g.36289117G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1509Val	rs775597341	missense variant	-	NC_000022.11:g.36289117G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1511Asn	rs1213125378	missense variant	-	NC_000022.11:g.36289110C>T	gnomAD
MYH9	P35579	p.Ser1512Phe	COSM1033837	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36289107G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Asp1515Asn	rs141750518	missense variant	-	NC_000022.11:g.36289099C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val1516Leu	rs727503284	missense variant	-	NC_000022.11:g.36289096C>A	-
MYH9	P35579	p.Val1516Leu	RCV000151326	missense variant	Rare genetic deafness	NC_000022.11:g.36289096C>A	ClinVar
MYH9	P35579	p.Lys1518Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36289088C>G	NCI-TCGA
MYH9	P35579	p.Ser1519Asn	RCV000727282	missense variant	-	NC_000022.11:g.36289086C>T	ClinVar
MYH9	P35579	p.Ser1519Asn	rs138193963	missense variant	-	NC_000022.11:g.36289086C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1519Asn	RCV000151325	missense variant	-	NC_000022.11:g.36289086C>T	ClinVar
MYH9	P35579	p.Val1520CysPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36288939_36288940insA	NCI-TCGA
MYH9	P35579	p.His1521Gln	rs11549907	missense variant	-	NC_000022.11:g.36288934G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1522Lys	COSM1033836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36288933C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1524Gln	rs771169790	missense variant	-	NC_000022.11:g.36288927C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1525Arg	rs747362893	missense variant	-	NC_000022.11:g.36288923T>C	ExAC,gnomAD
MYH9	P35579	p.Arg1528Trp	rs201405521	missense variant	-	NC_000022.11:g.36288915G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1528Gln	rs772577695	missense variant	-	NC_000022.11:g.36288914C>T	ExAC,gnomAD
MYH9	P35579	p.Glu1531Ter	COSM1484205	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36288906C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1531Val	COSM1416043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36288905T>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1531Asp	rs1243250029	missense variant	-	NC_000022.11:g.36288904C>G	TOPMed
MYH9	P35579	p.Gln1532Arg	rs11549910	missense variant	-	NC_000022.11:g.36288902T>C	-
MYH9	P35579	p.Gln1533Arg	RCV000216927	missense variant	-	NC_000022.11:g.36288899T>C	ClinVar
MYH9	P35579	p.Gln1533Lys	rs779694122	missense variant	-	NC_000022.11:g.36288900G>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1533Arg	rs876657892	missense variant	-	NC_000022.11:g.36288899T>C	-
MYH9	P35579	p.Val1534Met	rs11549909	missense variant	-	NC_000022.11:g.36288897C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Val1534Leu	rs11549909	missense variant	-	NC_000022.11:g.36288897C>G	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Glu1535Lys	rs902539406	missense variant	-	NC_000022.11:g.36288894C>T	gnomAD
MYH9	P35579	p.Glu1535Asp	rs745483956	missense variant	-	NC_000022.11:g.36288892C>A	ExAC,gnomAD
MYH9	P35579	p.Glu1536Gly	rs1267666166	missense variant	-	NC_000022.11:g.36288890T>C	gnomAD
MYH9	P35579	p.Met1537Val	rs1197634892	missense variant	-	NC_000022.11:g.36288888T>C	TOPMed
MYH9	P35579	p.Thr1539Met	rs772323929	missense variant	-	NC_000022.11:g.36288881G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1542Gln	rs1365242818	missense variant	-	NC_000022.11:g.36288873C>G	gnomAD
MYH9	P35579	p.Glu1547Gln	rs1556630000	missense variant	-	NC_000022.11:g.36288858C>G	-
MYH9	P35579	p.Glu1547Gln	RCV000657987	missense variant	-	NC_000022.11:g.36288858C>G	ClinVar
MYH9	P35579	p.Glu1547Asp	rs752832018	missense variant	-	NC_000022.11:g.36288856C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr1551Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36288846T>C	NCI-TCGA
MYH9	P35579	p.Glu1552Lys	RCV000263189	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36288843C>T	ClinVar
MYH9	P35579	p.Glu1552Lys	rs886057479	missense variant	-	NC_000022.11:g.36288843C>T	-
MYH9	P35579	p.Glu1552Lys	RCV000318391	missense variant	MYH9-related disorder	NC_000022.11:g.36288843C>T	ClinVar
MYH9	P35579	p.Glu1552Asp	rs537998194	missense variant	-	NC_000022.11:g.36288841T>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1554Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36288836G>A	NCI-TCGA
MYH9	P35579	p.Lys1555Arg	RCV000598425	missense variant	-	NC_000022.11:g.36288833T>C	ClinVar
MYH9	P35579	p.Lys1555Arg	rs141543499	missense variant	-	NC_000022.11:g.36288833T>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1557Gln	rs373393111	missense variant	-	NC_000022.11:g.36288827C>T	ESP,ExAC,gnomAD
MYH9	P35579	p.Arg1557Trp	rs1247241621	missense variant	-	NC_000022.11:g.36288828G>A	gnomAD
MYH9	P35579	p.Val1560Gly	RCV000483533	missense variant	-	NC_000022.11:g.36288818A>C	ClinVar
MYH9	P35579	p.Val1560Gly	rs1064794326	missense variant	-	NC_000022.11:g.36288818A>C	-
MYH9	P35579	p.Leu1562Val	rs139039608	missense variant	-	NC_000022.11:g.36288813G>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met1565Arg	rs748639460	missense variant	-	NC_000022.11:g.36288803A>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met1565Leu	rs774387771	missense variant	-	NC_000022.11:g.36288804T>G	TOPMed,gnomAD
MYH9	P35579	p.Met1565Thr	rs748639460	missense variant	-	NC_000022.11:g.36288803A>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met1565Val	rs774387771	missense variant	-	NC_000022.11:g.36288804T>C	TOPMed,gnomAD
MYH9	P35579	p.Phe1569Ile	rs1308621735	missense variant	-	NC_000022.11:g.36288792A>T	TOPMed
MYH9	P35579	p.Phe1569Leu	rs576697687	missense variant	-	NC_000022.11:g.36288790G>C	1000Genomes,TOPMed,gnomAD
MYH9	P35579	p.Glu1570Lys	rs1249288389	missense variant	-	NC_000022.11:g.36288789C>T	gnomAD
MYH9	P35579	p.Arg1571Trp	rs775178209	missense variant	-	NC_000022.11:g.36288786G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1573Met	COSM4103818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36288780G>T	NCI-TCGA Cosmic
MYH9	P35579	p.Leu1573Val	rs769457174	missense variant	-	NC_000022.11:g.36288780G>C	ExAC,gnomAD
MYH9	P35579	p.Arg1576Gln	RCV000151323	missense variant	-	NC_000022.11:g.36288770C>T	ClinVar
MYH9	P35579	p.Arg1576Trp	rs199722926	missense variant	-	NC_000022.11:g.36288771G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1576Gln	rs143269195	missense variant	-	NC_000022.11:g.36288770C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1577Asn	rs1394018862	missense variant	-	NC_000022.11:g.36288768C>T	gnomAD
MYH9	P35579	p.Asp1577Val	rs1299645320	missense variant	-	NC_000022.11:g.36288767T>A	gnomAD
MYH9	P35579	p.Glu1578Lys	rs777612180	missense variant	-	NC_000022.11:g.36288765C>T	ExAC,gnomAD
MYH9	P35579	p.Gln1579Glu	rs1179926547	missense variant	-	NC_000022.11:g.36288762G>C	TOPMed
MYH9	P35579	p.Glu1581Lys	rs566790184	missense variant	-	NC_000022.11:g.36288756C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Lys1583Asn	rs1418977738	missense variant	-	NC_000022.11:g.36288748C>A	TOPMed,gnomAD
MYH9	P35579	p.Lys1584Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36288747T>C	NCI-TCGA
MYH9	P35579	p.Lys1585Gln	rs149169068	missense variant	-	NC_000022.11:g.36288744T>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1586Lys	rs1408685006	missense variant	-	NC_000022.11:g.36288741G>T	gnomAD
MYH9	P35579	p.Arg1589Gly	rs1420833291	missense variant	-	NC_000022.11:g.36288732T>C	TOPMed
MYH9	P35579	p.Gln1590Arg	rs1208119638	missense variant	-	NC_000022.11:g.36288728T>C	gnomAD
MYH9	P35579	p.Arg1592Trp	rs1381655090	missense variant	-	NC_000022.11:g.36288410G>A	gnomAD
MYH9	P35579	p.Arg1592Gln	rs1387108152	missense variant	-	NC_000022.11:g.36288409C>T	gnomAD
MYH9	P35579	p.Glu1593Ter	COSM4932511	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36288407C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Met1594Arg	rs1458125730	missense variant	-	NC_000022.11:g.36288403A>C	gnomAD
MYH9	P35579	p.Met1594Thr	rs1458125730	missense variant	-	NC_000022.11:g.36288403A>G	gnomAD
MYH9	P35579	p.Met1594Ile	rs1319329696	missense variant	-	NC_000022.11:g.36288402C>T	TOPMed
MYH9	P35579	p.Met1594Leu	rs753988644	missense variant	-	NC_000022.11:g.36288404T>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1595Asp	rs540220521	missense variant	-	NC_000022.11:g.36288399C>A	1000Genomes
MYH9	P35579	p.Ala1596Gly	rs1417648620	missense variant	-	NC_000022.11:g.36288397G>C	gnomAD
MYH9	P35579	p.Leu1598Met	rs1163205030	missense variant	-	NC_000022.11:g.36288392G>T	gnomAD
MYH9	P35579	p.Glu1599Asp	rs781661570	missense variant	-	NC_000022.11:g.36288387C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1600Asn	rs1368617269	missense variant	-	NC_000022.11:g.36288386C>T	gnomAD
MYH9	P35579	p.Glu1601Ter	COSM461110	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36288383C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1601Ala	rs1444725413	missense variant	-	NC_000022.11:g.36288382T>G	gnomAD
MYH9	P35579	p.Arg1602Lys	rs1249850232	missense variant	-	NC_000022.11:g.36288379C>T	gnomAD
MYH9	P35579	p.Arg1602Ser	rs1235479005	missense variant	-	NC_000022.11:g.36288378C>G	TOPMed,gnomAD
MYH9	P35579	p.Arg1605Leu	COSM726456	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36288370C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Arg1605Cys	rs1467956956	missense variant	-	NC_000022.11:g.36288371G>A	gnomAD
MYH9	P35579	p.Ser1606Leu	rs145319741	missense variant	-	NC_000022.11:g.36288367G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1608Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36288362C>A	NCI-TCGA
MYH9	P35579	p.Val1609Ala	rs762280347	missense variant	-	NC_000022.11:g.36288358A>G	ExAC,gnomAD
MYH9	P35579	p.Ala1611Thr	rs150029980	missense variant	-	NC_000022.11:g.36288353C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1611Ser	rs150029980	missense variant	-	NC_000022.11:g.36288353C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1611Thr	RCV000155180	missense variant	-	NC_000022.11:g.36288353C>T	ClinVar
MYH9	P35579	p.Arg1612Trp	rs1340737753	missense variant	-	NC_000022.11:g.36288350G>A	gnomAD
MYH9	P35579	p.Leu1615Met	rs1322606616	missense variant	-	NC_000022.11:g.36288341G>T	gnomAD
MYH9	P35579	p.Glu1616Asp	rs760064629	missense variant	-	NC_000022.11:g.36288336C>A	ExAC,gnomAD
MYH9	P35579	p.Met1617Val	rs772942510	missense variant	-	NC_000022.11:g.36288335T>C	ExAC,gnomAD
MYH9	P35579	p.Asp1618Val	rs1407374239	missense variant	-	NC_000022.11:g.36288331T>A	gnomAD
MYH9	P35579	p.Asp1618Tyr	rs771657500	missense variant	-	NC_000022.11:g.36288332C>A	ExAC,gnomAD
MYH9	P35579	p.Leu1619Met	rs778679056	missense variant	-	NC_000022.11:g.36288329G>T	ExAC,gnomAD
MYH9	P35579	p.Lys1620Arg	rs1166914282	missense variant	-	NC_000022.11:g.36288325T>C	gnomAD
MYH9	P35579	p.Glu1623Ter	COSM4998085	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36288317C>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ala1624Val	rs1391531785	missense variant	-	NC_000022.11:g.36288313G>A	TOPMed,gnomAD
MYH9	P35579	p.His1625Pro	rs1331000345	missense variant	-	NC_000022.11:g.36288310T>G	TOPMed
MYH9	P35579	p.Ile1626Val	RCV000402895	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36288308T>C	ClinVar
MYH9	P35579	p.Ile1626Val	RCV000037563	missense variant	-	NC_000022.11:g.36288308T>C	ClinVar
MYH9	P35579	p.Ile1626Val	RCV000368736	missense variant	MYH9-related disorder	NC_000022.11:g.36288308T>C	ClinVar
MYH9	P35579	p.Ile1626Val	RCV000032225	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36288308T>C	ClinVar
MYH9	P35579	p.Ile1626Val	rs2269529	missense variant	-	NC_000022.11:g.36288308T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile1626Val	rs2269529	missense variant	-	NC_000022.11:g.36288308T>C	UniProt,dbSNP
MYH9	P35579	p.Ile1626Val	VAR_018318	missense variant	-	NC_000022.11:g.36288308T>C	UniProt
MYH9	P35579	p.Asp1627Asn	rs756236810	missense variant	-	NC_000022.11:g.36288305C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1628Ala	rs1451917771	missense variant	-	NC_000022.11:g.36288302A>C	gnomAD
MYH9	P35579	p.Ser1628Leu	rs750410479	missense variant	-	NC_000022.11:g.36288301G>A	ExAC,gnomAD
MYH9	P35579	p.Arg1633Gln	rs752028844	missense variant	-	NC_000022.11:g.36288286C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1633Trp	rs757547632	missense variant	-	NC_000022.11:g.36288287G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1635Lys	rs1439083724	missense variant	-	NC_000022.11:g.36288281C>T	gnomAD
MYH9	P35579	p.Ile1637Met	rs753280815	missense variant	-	NC_000022.11:g.36288273G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1638Arg	rs765615821	missense variant	-	NC_000022.11:g.36288271T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1643Met	RCV000155935	missense variant	-	NC_000022.11:g.36288257G>T	ClinVar
MYH9	P35579	p.Leu1643Met	rs727504669	missense variant	-	NC_000022.11:g.36288257G>T	TOPMed,gnomAD
MYH9	P35579	p.Leu1643Val	rs727504669	missense variant	-	NC_000022.11:g.36288257G>C	TOPMed,gnomAD
MYH9	P35579	p.Cys1650Arg	rs758485116	missense variant	-	NC_000022.11:g.36286831A>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Met1651Thr	RCV000512726	missense variant	-	NC_000022.11:g.36286827A>G	ClinVar
MYH9	P35579	p.Met1651Ile	rs1452965691	missense variant	-	NC_000022.11:g.36286826C>T	TOPMed
MYH9	P35579	p.Met1651Thr	rs142094977	missense variant	-	NC_000022.11:g.36286827A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1652His	RCV000283777	missense variant	MYH9-related disorder	NC_000022.11:g.36286824C>T	ClinVar
MYH9	P35579	p.Arg1652His	RCV000378271	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36286824C>T	ClinVar
MYH9	P35579	p.Arg1652His	rs779135945	missense variant	-	NC_000022.11:g.36286824C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1652Cys	rs1247989971	missense variant	-	NC_000022.11:g.36286825G>A	gnomAD
MYH9	P35579	p.Glu1653Gly	rs780486984	missense variant	-	NC_000022.11:g.36286821T>C	ExAC,gnomAD
MYH9	P35579	p.Glu1653Gln	rs375322236	missense variant	-	NC_000022.11:g.36286822C>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1653Asp	rs1035118799	missense variant	-	NC_000022.11:g.36286820C>G	gnomAD
MYH9	P35579	p.Glu1653Lys	rs375322236	missense variant	-	NC_000022.11:g.36286822C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1654Met	COSM4842779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36286819G>T	NCI-TCGA Cosmic
MYH9	P35579	p.Asp1655His	rs751002241	missense variant	-	NC_000022.11:g.36286816C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1655Val	rs1228426500	missense variant	-	NC_000022.11:g.36286815T>A	gnomAD
MYH9	P35579	p.Asp1655Asn	rs751002241	missense variant	-	NC_000022.11:g.36286816C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1655Gly	rs1228426500	missense variant	-	NC_000022.11:g.36286815T>C	gnomAD
MYH9	P35579	p.Asp1655Asn	RCV000657996	missense variant	-	NC_000022.11:g.36286816C>T	ClinVar
MYH9	P35579	p.Asp1656Asn	rs763871537	missense variant	-	NC_000022.11:g.36286813C>T	ExAC,gnomAD
MYH9	P35579	p.Thr1657Ser	rs752423809	missense variant	-	NC_000022.11:g.36286810T>A	ExAC,gnomAD
MYH9	P35579	p.Thr1657Ala	rs752423809	missense variant	-	NC_000022.11:g.36286810T>C	ExAC,gnomAD
MYH9	P35579	p.Arg1658His	rs375515914	missense variant	-	NC_000022.11:g.36286806C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1658Cys	RCV000323686	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36286807G>A	ClinVar
MYH9	P35579	p.Arg1658Cys	RCV000287421	missense variant	MYH9-related disorder	NC_000022.11:g.36286807G>A	ClinVar
MYH9	P35579	p.Arg1658Leu	rs375515914	missense variant	-	NC_000022.11:g.36286806C>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1658Cys	rs143972348	missense variant	-	NC_000022.11:g.36286807G>A	ESP,ExAC,gnomAD
MYH9	P35579	p.Ala1659Thr	rs371410108	missense variant	-	NC_000022.11:g.36286804C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1661His	rs773424441	missense variant	-	NC_000022.11:g.36286797C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1661Gly	rs760844584	missense variant	-	NC_000022.11:g.36286798G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1661Cys	rs760844584	missense variant	-	NC_000022.11:g.36286798G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1663Asp	rs772398702	missense variant	-	NC_000022.11:g.36286790C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile1664Phe	rs377635445	missense variant	-	NC_000022.11:g.36286789T>A	ESP,ExAC,gnomAD
MYH9	P35579	p.Ala1666Val	rs1249120328	missense variant	-	NC_000022.11:g.36286782G>A	TOPMed,gnomAD
MYH9	P35579	p.Gln1667Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36286779T>A	NCI-TCGA
MYH9	P35579	p.Gln1667Arg	rs953819948	missense variant	-	NC_000022.11:g.36286779T>C	TOPMed,gnomAD
MYH9	P35579	p.Glu1672Asp	rs780540448	missense variant	-	NC_000022.11:g.36286763C>G	ExAC,gnomAD
MYH9	P35579	p.Lys1674Gln	rs751126110	missense variant	-	NC_000022.11:g.36286759T>G	ExAC,gnomAD
MYH9	P35579	p.Leu1675Val	rs777123889	missense variant	-	NC_000022.11:g.36286756G>C	ExAC
MYH9	P35579	p.Lys1676Glu	RCV000151322	missense variant	-	NC_000022.11:g.36286753T>C	ClinVar
MYH9	P35579	p.Lys1676Glu	RCV000416222	missense variant	-	NC_000022.11:g.36286753T>C	ClinVar
MYH9	P35579	p.Lys1676Glu	rs138158369	missense variant	-	NC_000022.11:g.36286753T>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1677Asn	rs1384893810	missense variant	-	NC_000022.11:g.36286749C>T	gnomAD
MYH9	P35579	p.Met1678Thr	rs752323799	missense variant	-	NC_000022.11:g.36286746A>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1681Lys	rs1458660141	missense variant	-	NC_000022.11:g.36286738C>T	gnomAD
MYH9	P35579	p.Glu1681Gly	rs1370183447	missense variant	-	NC_000022.11:g.36286737T>C	gnomAD
MYH9	P35579	p.Glu1681Asp	rs1213429367	missense variant	-	NC_000022.11:g.36286736C>G	TOPMed
MYH9	P35579	p.Met1682Ile	rs1166802611	missense variant	-	NC_000022.11:g.36286733C>T	gnomAD
MYH9	P35579	p.Gln1684Ter	RCV000778658	nonsense	MYH9-related disorder	NC_000022.11:g.36286729G>A	ClinVar
MYH9	P35579	p.Gln1684Arg	rs1476506044	missense variant	-	NC_000022.11:g.36286728T>C	TOPMed
MYH9	P35579	p.Gln1686Glu	rs759419549	missense variant	-	NC_000022.11:g.36286723G>C	ExAC,gnomAD
MYH9	P35579	p.Gln1686His	rs753622711	missense variant	-	NC_000022.11:g.36286721C>G	ExAC,gnomAD
MYH9	P35579	p.Glu1687Lys	rs1176044018	missense variant	-	NC_000022.11:g.36286720C>T	TOPMed
MYH9	P35579	p.Glu1687Gly	rs766492630	missense variant	-	NC_000022.11:g.36286719T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1688Gly	rs766242101	missense variant	-	NC_000022.11:g.36285952T>C	ExAC
MYH9	P35579	p.Ala1690Val	rs756166401	missense variant	-	NC_000022.11:g.36285946G>A	ExAC,gnomAD
MYH9	P35579	p.Ala1690Ser	rs1326861970	missense variant	-	NC_000022.11:g.36285947C>A	gnomAD
MYH9	P35579	p.Ala1691Val	rs1447964555	missense variant	-	NC_000022.11:g.36285943G>A	gnomAD
MYH9	P35579	p.Ala1692Val	rs558195536	missense variant	-	NC_000022.11:g.36285940G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1692Thr	rs767426084	missense variant	-	NC_000022.11:g.36285941C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1694His	RCV000735682	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36285934C>T	ClinVar
MYH9	P35579	p.Arg1694Cys	rs142904663	missense variant	-	NC_000022.11:g.36285935G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1694Leu	rs538330756	missense variant	-	NC_000022.11:g.36285934C>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1694His	rs538330756	missense variant	-	NC_000022.11:g.36285934C>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1695Val	rs184358592	missense variant	-	NC_000022.11:g.36285931G>A	1000Genomes
MYH9	P35579	p.Arg1697Cys	rs372871106	missense variant	-	NC_000022.11:g.36285926G>A	ESP,ExAC,gnomAD
MYH9	P35579	p.Arg1697His	rs746191750	missense variant	-	NC_000022.11:g.36285925C>T	ExAC,gnomAD
MYH9	P35579	p.Ala1699Thr	rs777009050	missense variant	-	NC_000022.11:g.36285920C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1703Gln	rs754714910	missense variant	-	NC_000022.11:g.36285907C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1703Trp	RCV000156181	missense variant	-	NC_000022.11:g.36285908G>A	ClinVar
MYH9	P35579	p.Arg1703Trp	rs569541375	missense variant	-	NC_000022.11:g.36285908G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1704Gly	rs1455486202	missense variant	-	NC_000022.11:g.36285904T>C	TOPMed
MYH9	P35579	p.Glu1709Lys	rs1351689578	missense variant	-	NC_000022.11:g.36285890C>T	gnomAD
MYH9	P35579	p.Ile1710Val	rs770437113	missense variant	-	NC_000022.11:g.36285887T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1711Thr	rs757217190	missense variant	-	NC_000022.11:g.36285884C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1711Ser	rs757217190	missense variant	-	NC_000022.11:g.36285884C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn1712His	rs751632674	missense variant	-	NC_000022.11:g.36285881T>G	ExAC,gnomAD
MYH9	P35579	p.Asn1712Asp	rs751632674	missense variant	-	NC_000022.11:g.36285881T>C	ExAC,gnomAD
MYH9	P35579	p.Asn1712Ser	rs985388904	missense variant	-	NC_000022.11:g.36285880T>C	TOPMed,gnomAD
MYH9	P35579	p.Ser1713Gly	RCV000454246	missense variant	Autosomal recessive non-syndromic sensorineural deafness type DFNB	NC_000022.11:g.36285878T>C	ClinVar
MYH9	P35579	p.Ser1713Gly	rs764139009	missense variant	-	NC_000022.11:g.36285878T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1713Asn	rs968577844	missense variant	-	NC_000022.11:g.36285877C>T	TOPMed,gnomAD
MYH9	P35579	p.Ser1714Gly	rs1389598882	missense variant	-	NC_000022.11:g.36285875T>C	gnomAD
MYH9	P35579	p.Gly1715Ser	RCV000155173	missense variant	-	NC_000022.11:g.36285872C>T	ClinVar
MYH9	P35579	p.Gly1715Ser	rs148109368	missense variant	-	NC_000022.11:g.36285872C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gly1715Ser	RCV000357489	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36285872C>T	ClinVar
MYH9	P35579	p.Gly1715Ser	RCV000265008	missense variant	MYH9-related disorder	NC_000022.11:g.36285872C>T	ClinVar
MYH9	P35579	p.Ala1718Thr	rs1276833575	missense variant	-	NC_000022.11:g.36285780C>T	TOPMed,gnomAD
MYH9	P35579	p.Ala1720Val	rs1049266169	missense variant	-	NC_000022.11:g.36285773G>A	TOPMed,gnomAD
MYH9	P35579	p.Ala1720Ser	rs745513016	missense variant	-	NC_000022.11:g.36285774C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1723Asp	rs1345777013	missense variant	-	NC_000022.11:g.36285763C>A	gnomAD
MYH9	P35579	p.Lys1724Arg	rs770791825	missense variant	-	NC_000022.11:g.36285761T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1725Trp	rs547770783	missense variant	-	NC_000022.11:g.36285759G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1725Gln	rs993895986	missense variant	-	NC_000022.11:g.36285758C>T	gnomAD
MYH9	P35579	p.Arg1726His	rs777701033	missense variant	-	NC_000022.11:g.36285755C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1726Cys	rs375070090	missense variant	-	NC_000022.11:g.36285756G>A	ESP,TOPMed
MYH9	P35579	p.Leu1727Met	rs373380499	missense variant	-	NC_000022.11:g.36285753G>T	ESP,TOPMed,gnomAD
MYH9	P35579	p.Glu1728Gly	rs1430285550	missense variant	-	NC_000022.11:g.36285749T>C	gnomAD
MYH9	P35579	p.Ala1729Ser	rs140662138	missense variant	-	NC_000022.11:g.36285747C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1729Ser	RCV000592360	missense variant	-	NC_000022.11:g.36285747C>A	ClinVar
MYH9	P35579	p.Arg1730Cys	RCV000151321	missense variant	-	NC_000022.11:g.36285744G>A	ClinVar
MYH9	P35579	p.Arg1730Cys	rs201021615	missense variant	-	NC_000022.11:g.36285744G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1730His	rs1254152525	missense variant	-	NC_000022.11:g.36285743C>T	TOPMed,gnomAD
MYH9	P35579	p.Ile1731Asn	rs1442359956	missense variant	-	NC_000022.11:g.36285740A>T	gnomAD
MYH9	P35579	p.Ile1731Val	rs1205219578	missense variant	-	NC_000022.11:g.36285741T>C	TOPMed,gnomAD
MYH9	P35579	p.Ala1732Val	COSM4103815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36285737G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Ala1732CysLeuLeuGlnLysIleHisSer	NCI-TCGA novel	insertion	-	NC_000022.11:g.36285736_36285737insCTATGTATTTTTTGAAGGAGGCAA	NCI-TCGA
MYH9	P35579	p.Ala1732Thr	rs1050130268	missense variant	-	NC_000022.11:g.36285738C>T	gnomAD
MYH9	P35579	p.Ala1732Ser	rs1050130268	missense variant	-	NC_000022.11:g.36285738C>A	gnomAD
MYH9	P35579	p.Leu1734Val	rs761101755	missense variant	-	NC_000022.11:g.36285732G>C	ExAC,gnomAD
MYH9	P35579	p.Glu1741Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36285711C>A	NCI-TCGA
MYH9	P35579	p.Gly1743Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36285705C>A	NCI-TCGA
MYH9	P35579	p.Thr1745Met	rs545556195	missense variant	-	NC_000022.11:g.36285698G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr1745Ala	rs768208950	missense variant	-	NC_000022.11:g.36285699T>C	ExAC,gnomAD
MYH9	P35579	p.Glu1746Asp	rs764827587	missense variant	-	NC_000022.11:g.36285694C>G	ExAC,gnomAD
MYH9	P35579	p.Ile1748Phe	rs979268761	missense variant	-	NC_000022.11:g.36285690T>A	TOPMed
MYH9	P35579	p.Ile1748Thr	rs1156676703	missense variant	-	NC_000022.11:g.36285689A>G	gnomAD
MYH9	P35579	p.Asp1750His	rs776352474	missense variant	-	NC_000022.11:g.36285684C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1750Asn	rs776352474	missense variant	-	NC_000022.11:g.36285684C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1751Leu	rs746864370	missense variant	-	NC_000022.11:g.36285680C>A	ExAC,gnomAD
MYH9	P35579	p.Arg1751Trp	rs770433607	missense variant	-	NC_000022.11:g.36285681G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1751Gln	rs746864370	missense variant	-	NC_000022.11:g.36285680C>T	ExAC,gnomAD
MYH9	P35579	p.Asn1756Thr	rs1228082998	missense variant	-	NC_000022.11:g.36285665T>G	TOPMed
MYH9	P35579	p.Leu1757Met	rs778663396	missense variant	-	NC_000022.11:g.36285663G>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile1759Met	rs183105164	missense variant	-	NC_000022.11:g.36285327G>C	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1760Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36285326C>A	NCI-TCGA
MYH9	P35579	p.Asp1760Asn	rs1026560650	missense variant	-	NC_000022.11:g.36285326C>T	TOPMed,gnomAD
MYH9	P35579	p.Gln1761Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36285322T>A	NCI-TCGA
MYH9	P35579	p.Asp1765Asn	rs779971012	missense variant	-	NC_000022.11:g.36285311C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asn1767Lys	rs966637024	missense variant	-	NC_000022.11:g.36285303G>T	gnomAD
MYH9	P35579	p.Glu1769Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36285297C>A	NCI-TCGA
MYH9	P35579	p.Arg1770Leu	rs746118702	missense variant	-	NC_000022.11:g.36285295C>A	ExAC,gnomAD
MYH9	P35579	p.Arg1770Cys	RCV000656460	missense variant	Hemangioma, capillary infantile (HCI)	NC_000022.11:g.36285296G>A	ClinVar
MYH9	P35579	p.Arg1770His	rs746118702	missense variant	-	NC_000022.11:g.36285295C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1770Cys	rs1430793034	missense variant	-	NC_000022.11:g.36285296G>A	gnomAD
MYH9	P35579	p.His1772Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36285290G>T	NCI-TCGA
MYH9	P35579	p.His1772Tyr	rs1455355336	missense variant	-	NC_000022.11:g.36285290G>A	TOPMed
MYH9	P35579	p.Ala1773SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36285287_36285288insT	NCI-TCGA
MYH9	P35579	p.Ala1773Thr	rs190450967	missense variant	-	NC_000022.11:g.36285287C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1773Ser	rs190450967	missense variant	-	NC_000022.11:g.36285287C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1774Arg	rs1443684692	missense variant	-	NC_000022.11:g.36285283T>C	TOPMed
MYH9	P35579	p.Lys1775Glu	RCV000037567	missense variant	-	NC_000022.11:g.36285281T>C	ClinVar
MYH9	P35579	p.Lys1775Glu	RCV000315373	missense variant	MYH9-related disorder	NC_000022.11:g.36285281T>C	ClinVar
MYH9	P35579	p.Lys1775Glu	rs145139708	missense variant	-	NC_000022.11:g.36285281T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1775Glu	RCV000353893	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36285281T>C	ClinVar
MYH9	P35579	p.Lys1775Glu	RCV000514769	missense variant	-	NC_000022.11:g.36285281T>C	ClinVar
MYH9	P35579	p.Asn1776Lys	rs764719958	missense variant	-	NC_000022.11:g.36285276G>T	ExAC,gnomAD
MYH9	P35579	p.Glu1777Gln	rs758825898	missense variant	-	NC_000022.11:g.36285275C>G	ExAC,gnomAD
MYH9	P35579	p.Asn1778Thr	rs1271830093	missense variant	-	NC_000022.11:g.36285271T>G	TOPMed,gnomAD
MYH9	P35579	p.Asn1778Ser	rs1271830093	missense variant	-	NC_000022.11:g.36285271T>C	TOPMed,gnomAD
MYH9	P35579	p.Ala1779Val	rs547342920	missense variant	-	NC_000022.11:g.36285268G>A	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Arg1780Trp	rs527571090	missense variant	-	NC_000022.11:g.36285266G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1780Gln	rs760128307	missense variant	-	NC_000022.11:g.36285265C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1784Gln	rs767085768	missense variant	-	NC_000022.11:g.36285254C>G	ExAC,gnomAD
MYH9	P35579	p.Arg1785Cys	rs761606303	missense variant	-	NC_000022.11:g.36285251G>A	ExAC,gnomAD
MYH9	P35579	p.Arg1785His	rs774015925	missense variant	-	NC_000022.11:g.36285250C>T	ExAC,gnomAD
MYH9	P35579	p.Gln1786His	rs768683494	missense variant	-	NC_000022.11:g.36285246C>G	ExAC,gnomAD
MYH9	P35579	p.Gln1786His	rs768683494	missense variant	-	NC_000022.11:g.36285246C>A	ExAC,gnomAD
MYH9	P35579	p.Asn1787Lys	rs201463106	missense variant	-	NC_000022.11:g.36285243G>T	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1788Arg	rs775451903	missense variant	-	NC_000022.11:g.36285241T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1790His	rs1374075151	missense variant	-	NC_000022.11:g.36285235A>T	gnomAD
MYH9	P35579	p.Lys1793Arg	rs141440715	missense variant	-	NC_000022.11:g.36285226T>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1795Arg	rs745879035	missense variant	-	NC_000022.11:g.36285220T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1795Ter	rs1431863120	stop gained	-	NC_000022.11:g.36285221G>A	TOPMed,gnomAD
MYH9	P35579	p.Glu1796Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36285216C>G	NCI-TCGA
MYH9	P35579	p.Gly1799Ser	rs771266540	missense variant	-	NC_000022.11:g.36285209C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Thr1800Pro	rs1196963679	missense variant	-	NC_000022.11:g.36285206T>G	gnomAD
MYH9	P35579	p.Tyr1805Cys	rs777968148	missense variant	-	NC_000022.11:g.36285190T>C	ExAC,gnomAD
MYH9	P35579	p.Lys1806Arg	rs1283662976	missense variant	-	NC_000022.11:g.36285187T>C	gnomAD
MYH9	P35579	p.Ala1807Gly	rs758992217	missense variant	-	NC_000022.11:g.36285184G>C	ExAC,gnomAD
MYH9	P35579	p.Ser1808Pro	rs1181032318	missense variant	-	NC_000022.11:g.36285182A>G	TOPMed
MYH9	P35579	p.Thr1810Ala	rs779350077	missense variant	-	NC_000022.11:g.36285176T>C	ExAC,gnomAD
MYH9	P35579	p.Thr1810Ile	rs1393158636	missense variant	-	NC_000022.11:g.36285175G>A	gnomAD
MYH9	P35579	p.Ala1811Thr	rs1302814429	missense variant	-	NC_000022.11:g.36285173C>T	gnomAD
MYH9	P35579	p.Glu1813Gln	rs761427754	missense variant	-	NC_000022.11:g.36285167C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1813Lys	rs761427754	missense variant	-	NC_000022.11:g.36285167C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1814Val	rs751423187	missense variant	-	NC_000022.11:g.36285163G>A	ExAC,gnomAD
MYH9	P35579	p.Ala1814Ser	rs1177594750	missense variant	-	NC_000022.11:g.36285164C>A	gnomAD
MYH9	P35579	p.Lys1815Asn	rs763821179	missense variant	-	NC_000022.11:g.36285159C>G	ExAC,gnomAD
MYH9	P35579	p.Ile1816Val	rs762773112	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36285158T>C	UniProt,dbSNP
MYH9	P35579	p.Ile1816Val	VAR_030385	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36285158T>C	UniProt
MYH9	P35579	p.Ile1816Val	rs762773112	missense variant	-	NC_000022.11:g.36285158T>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ile1816Met	rs1045546652	missense variant	-	NC_000022.11:g.36285156A>C	gnomAD
MYH9	P35579	p.Leu1819Arg	RCV000394413	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36285148A>C	ClinVar
MYH9	P35579	p.Leu1819Arg	RCV000787013	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36285148A>C	ClinVar
MYH9	P35579	p.Leu1819Arg	RCV000368697	missense variant	MYH9-related disorder	NC_000022.11:g.36285148A>C	ClinVar
MYH9	P35579	p.Leu1819Arg	rs368440234	missense variant	-	NC_000022.11:g.36285148A>C	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1821Gly	rs1314576202	missense variant	-	NC_000022.11:g.36285142T>C	TOPMed,gnomAD
MYH9	P35579	p.Gln1822Arg	rs1398061733	missense variant	-	NC_000022.11:g.36285139T>C	gnomAD
MYH9	P35579	p.Asp1824Asn	rs376154206	missense variant	-	NC_000022.11:g.36285134C>T	ESP,ExAC,gnomAD
MYH9	P35579	p.Asn1825Asp	rs1294169279	missense variant	-	NC_000022.11:g.36285131T>C	TOPMed
MYH9	P35579	p.Asn1825Ser	rs1207813513	missense variant	-	NC_000022.11:g.36285130T>C	gnomAD
MYH9	P35579	p.Asn1825Lys	rs747177367	missense variant	-	NC_000022.11:g.36285129G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1826Lys	rs1246675242	missense variant	-	NC_000022.11:g.36285128C>T	TOPMed
MYH9	P35579	p.Lys1828AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36284511_36284512insTTGGTCTCGTTGTCCAG	NCI-TCGA
MYH9	P35579	p.Lys1828AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36284511_36284512insTTGGTCTCGTTGTCCAGCTGCTCCTCCAG	NCI-TCGA
MYH9	P35579	p.Glu1829ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36284511_36284512insTTGGT	NCI-TCGA
MYH9	P35579	p.Arg1830Leu	rs966415372	missense variant	-	NC_000022.11:g.36284506C>A	TOPMed,gnomAD
MYH9	P35579	p.Arg1830His	rs966415372	missense variant	-	NC_000022.11:g.36284506C>T	TOPMed,gnomAD
MYH9	P35579	p.Ala1832Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36284501C>T	NCI-TCGA
MYH9	P35579	p.Gln1836His	rs766271245	missense variant	-	NC_000022.11:g.36284487C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gln1836Arg	rs1361735292	missense variant	-	NC_000022.11:g.36284488T>C	gnomAD
MYH9	P35579	p.Gln1836His	rs766271245	missense variant	-	NC_000022.11:g.36284487C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val1837Met	rs1228388790	missense variant	-	NC_000022.11:g.36284486C>T	gnomAD
MYH9	P35579	p.Val1837Gly	rs1177354745	missense variant	-	NC_000022.11:g.36284485A>C	TOPMed,gnomAD
MYH9	P35579	p.Arg1838His	rs1228543932	missense variant	-	NC_000022.11:g.36284482C>T	TOPMed,gnomAD
MYH9	P35579	p.Arg1838Cys	rs1272298108	missense variant	-	NC_000022.11:g.36284483G>A	gnomAD
MYH9	P35579	p.Arg1839Gln	rs760681627	missense variant	-	NC_000022.11:g.36284479C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1839Trp	rs1330177690	missense variant	-	NC_000022.11:g.36284480G>A	gnomAD
MYH9	P35579	p.Thr1840Ile	rs1406367468	missense variant	-	NC_000022.11:g.36284476G>A	gnomAD
MYH9	P35579	p.Glu1841Lys	RCV000790361	missense variant	MYH9-related disorder	NC_000022.11:g.36284474C>T	ClinVar
MYH9	P35579	p.Glu1841Lys	RCV000015119	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36284474C>T	ClinVar
MYH9	P35579	p.Glu1841Lys	rs80338834	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36284474C>T	UniProt,dbSNP
MYH9	P35579	p.Glu1841Lys	VAR_010797	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36284474C>T	UniProt
MYH9	P35579	p.Glu1841Lys	rs80338834	missense variant	-	NC_000022.11:g.36284474C>T	-
MYH9	P35579	p.Glu1841Asp	rs773325666	missense variant	-	NC_000022.11:g.36284472C>G	ExAC,gnomAD
MYH9	P35579	p.Leu1844Met	rs1421499073	missense variant	-	NC_000022.11:g.36284465G>T	gnomAD
MYH9	P35579	p.Lys1845Arg	rs1433454439	missense variant	-	NC_000022.11:g.36284461T>C	TOPMed
MYH9	P35579	p.Leu1848Val	rs201174456	missense variant	-	NC_000022.11:g.36284453G>C	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Leu1849Pro	COSM1416037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284449A>G	NCI-TCGA Cosmic
MYH9	P35579	p.Asp1853GlyPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000022.11:g.36284437_36284438insCATC	NCI-TCGA
MYH9	P35579	p.Glu1854Lys	rs1269778199	missense variant	-	NC_000022.11:g.36284435C>T	gnomAD
MYH9	P35579	p.Arg1855Trp	RCV000509305	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36284432G>A	ClinVar
MYH9	P35579	p.Arg1855Gln	rs746568745	missense variant	-	NC_000022.11:g.36284431C>T	ExAC,gnomAD
MYH9	P35579	p.Arg1855Trp	rs1436597250	missense variant	-	NC_000022.11:g.36284432G>A	gnomAD
MYH9	P35579	p.Arg1856Lys	rs1196851918	missense variant	-	NC_000022.11:g.36284428C>T	gnomAD
MYH9	P35579	p.Asn1857Ile	rs1438662105	missense variant	-	NC_000022.11:g.36284425T>A	TOPMed
MYH9	P35579	p.Ala1858Thr	rs758034745	missense variant	-	NC_000022.11:g.36284423C>T	ExAC,gnomAD
MYH9	P35579	p.Ala1858Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36284422G>A	NCI-TCGA
MYH9	P35579	p.Glu1859Lys	rs759956261	missense variant	-	NC_000022.11:g.36284420C>T	ExAC,gnomAD
MYH9	P35579	p.Gln1864Pro	COSM3842601	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284404T>G	NCI-TCGA Cosmic
MYH9	P35579	p.Asp1866His	rs371765378	missense variant	-	NC_000022.11:g.36284262C>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1866Asn	rs371765378	missense variant	-	NC_000022.11:g.36284262C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Lys1867Thr	rs1309992822	missense variant	-	NC_000022.11:g.36284258T>G	TOPMed
MYH9	P35579	p.Ala1868AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.36284255G>-	NCI-TCGA
MYH9	P35579	p.Ala1868Val	rs991522602	missense variant	-	NC_000022.11:g.36284255G>A	TOPMed,gnomAD
MYH9	P35579	p.Thr1870Ala	rs958621472	missense variant	-	NC_000022.11:g.36284250T>C	TOPMed
MYH9	P35579	p.Arg1871His	rs1347124459	missense variant	-	NC_000022.11:g.36284246C>T	TOPMed,gnomAD
MYH9	P35579	p.Arg1871Cys	rs1428890239	missense variant	-	NC_000022.11:g.36284247G>A	gnomAD
MYH9	P35579	p.Leu1875Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36284235G>T	NCI-TCGA
MYH9	P35579	p.Arg1877Trp	rs375674671	missense variant	-	NC_000022.11:g.36284229G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1877Leu	rs759777823	missense variant	-	NC_000022.11:g.36284228C>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1877Gln	rs759777823	missense variant	-	NC_000022.11:g.36284228C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1877Gln	RCV000782240	missense variant	-	NC_000022.11:g.36284228C>T	ClinVar
MYH9	P35579	p.Gln1878Ter	COSM1484204	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36284226G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Leu1879Val	rs1383426298	missense variant	-	NC_000022.11:g.36284223G>C	gnomAD
MYH9	P35579	p.Ala1882Thr	rs1355600745	missense variant	-	NC_000022.11:g.36284214C>T	TOPMed
MYH9	P35579	p.Glu1883Lys	rs1261555310	missense variant	-	NC_000022.11:g.36284211C>T	gnomAD
MYH9	P35579	p.Glu1884Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36284208C>G	NCI-TCGA
MYH9	P35579	p.Glu1884Asp	rs761463265	missense variant	-	NC_000022.11:g.36284206C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1888Trp	rs578002660	missense variant	-	NC_000022.11:g.36284196G>A	1000Genomes,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1888Gln	rs1489663673	missense variant	-	NC_000022.11:g.36284195C>T	gnomAD
MYH9	P35579	p.Ala1891Thr	rs748946434	missense variant	-	NC_000022.11:g.36284187C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ser1892Ala	rs1368379611	missense variant	-	NC_000022.11:g.36284184A>C	TOPMed
MYH9	P35579	p.Ser1892Phe	rs1450702017	missense variant	-	NC_000022.11:g.36284183G>A	TOPMed
MYH9	P35579	p.Arg1894Trp	rs372051836	missense variant	-	NC_000022.11:g.36284178G>A	ESP,ExAC,gnomAD
MYH9	P35579	p.Arg1894Gln	rs745596166	missense variant	-	NC_000022.11:g.36284177C>T	ExAC,gnomAD
MYH9	P35579	p.Lys1895Gln	rs1180813769	missense variant	-	NC_000022.11:g.36284175T>G	gnomAD
MYH9	P35579	p.Arg1898Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36284166G>A	NCI-TCGA
MYH9	P35579	p.Glu1899Lys	RCV000762069	missense variant	-	NC_000022.11:g.36284163C>T	ClinVar
MYH9	P35579	p.Glu1899Gly	rs191342427	missense variant	-	NC_000022.11:g.36284162T>C	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Glu1899Lys	rs747131828	missense variant	-	NC_000022.11:g.36284163C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1902Tyr	rs758424895	missense variant	-	NC_000022.11:g.36284154C>A	ExAC,gnomAD
MYH9	P35579	p.Ala1903Val	rs1429282349	missense variant	-	NC_000022.11:g.36284150G>A	TOPMed
MYH9	P35579	p.Ala1903Thr	rs558056055	missense variant	-	NC_000022.11:g.36284151C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Thr1904Ala	rs754138115	missense variant	-	NC_000022.11:g.36284148T>C	ExAC,gnomAD
MYH9	P35579	p.Thr1904Ile	rs767057323	missense variant	-	NC_000022.11:g.36284147G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1905Gln	rs368149181	missense variant	-	NC_000022.11:g.36284145C>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Glu1905Gly	rs774051540	missense variant	-	NC_000022.11:g.36284144T>C	ExAC,gnomAD
MYH9	P35579	p.Glu1905Ala	rs774051540	missense variant	-	NC_000022.11:g.36284144T>G	ExAC,gnomAD
MYH9	P35579	p.Thr1906Pro	COSM1033832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284142T>G	NCI-TCGA Cosmic
MYH9	P35579	p.Thr1906Met	RCV000392449	missense variant	MYH9-related disorder	NC_000022.11:g.36284141G>A	ClinVar
MYH9	P35579	p.Thr1906Ala	rs1479216148	missense variant	-	NC_000022.11:g.36284142T>C	TOPMed,gnomAD
MYH9	P35579	p.Thr1906Met	RCV000343175	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36284141G>A	ClinVar
MYH9	P35579	p.Thr1906Met	rs149663189	missense variant	-	NC_000022.11:g.36284141G>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1907Val	rs1222570347	missense variant	-	NC_000022.11:g.36284138G>A	gnomAD
MYH9	P35579	p.Asp1908Asn	rs1226192819	missense variant	-	NC_000022.11:g.36284136C>T	TOPMed
MYH9	P35579	p.Ala1909Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36284132G>A	NCI-TCGA
MYH9	P35579	p.Met1910Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36284128C>A	NCI-TCGA
MYH9	P35579	p.Met1910Val	rs769321758	missense variant	-	NC_000022.11:g.36284130T>C	ExAC,gnomAD
MYH9	P35579	p.Arg1912His	COSM283039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284123C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Arg1912Cys	COSM1033831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284124G>A	NCI-TCGA Cosmic
MYH9	P35579	p.Glu1913Lys	rs776378927	missense variant	-	NC_000022.11:g.36284121C>T	ExAC,gnomAD
MYH9	P35579	p.Ser1916Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36284111G>A	NCI-TCGA
MYH9	P35579	p.Leu1917GlnHisSerTrpGlyProAsnIlePheAsnGlyTerGlyThrCysUnk	rs1396459914	stop gained	-	NC_000022.11:g.36284109_36284110insCAAGTCCCTTAACCATTAAATATATTTGGTCCCCAAGAGTGTTG	gnomAD
MYH9	P35579	p.Asn1919Thr	rs1296987223	missense variant	-	NC_000022.11:g.36284102T>G	gnomAD
MYH9	P35579	p.Lys1920Arg	rs758475805	missense variant	-	NC_000022.11:g.36284099T>C	ExAC,gnomAD
MYH9	P35579	p.Lys1920Glu	rs777646002	missense variant	-	NC_000022.11:g.36284100T>C	ExAC,gnomAD
MYH9	P35579	p.Arg1923Cys	rs753492355	missense variant	-	NC_000022.11:g.36282784G>A	ExAC,gnomAD
MYH9	P35579	p.Gly1924Arg	rs371476289	missense variant	-	NC_000022.11:g.36282781C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1925Asn	rs1161615308	missense variant	-	NC_000022.11:g.36282778C>T	gnomAD
MYH9	P35579	p.Leu1926Met	rs1446304219	missense variant	-	NC_000022.11:g.36282775G>T	gnomAD
MYH9	P35579	p.Pro1927Ser	rs1385709606	missense variant	-	NC_000022.11:g.36282772G>A	gnomAD
MYH9	P35579	p.Pro1927Leu	rs772986357	missense variant	-	NC_000022.11:g.36282771G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val1930Leu	rs142565774	missense variant	-	NC_000022.11:g.36282763C>A	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val1930Met	rs142565774	missense variant	-	NC_000022.11:g.36282763C>T	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Val1930Leu	rs142565774	missense variant	-	NC_000022.11:g.36282763C>G	ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Pro1931Thr	rs1241143684	missense variant	-	NC_000022.11:g.36282760G>T	TOPMed
MYH9	P35579	p.Arg1932His	rs1291058743	missense variant	-	NC_000022.11:g.36282756C>T	gnomAD
MYH9	P35579	p.Arg1933Ter	RCV000790363	nonsense	MYH9-related disorder	NC_000022.11:g.36282754G>A	ClinVar
MYH9	P35579	p.Arg1933Gln	rs906890636	missense variant	-	NC_000022.11:g.36282753C>T	TOPMed
MYH9	P35579	p.Arg1933Ter	RCV000015116	nonsense	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36282754G>A	ClinVar
MYH9	P35579	p.Arg1933Ter	rs80338835	stop gained	-	NC_000022.11:g.36282754G>A	ExAC,gnomAD
MYH9	P35579	p.Ala1935Val	rs1362216513	missense variant	-	NC_000022.11:g.36282747G>A	gnomAD
MYH9	P35579	p.Arg1936Trp	rs727503281	missense variant	-	NC_000022.11:g.36282745G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1936Gln	rs781388651	missense variant	-	NC_000022.11:g.36282744C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Arg1936Trp	RCV000151318	missense variant	-	NC_000022.11:g.36282745G>A	ClinVar
MYH9	P35579	p.Lys1937Arg	rs1324361146	missense variant	-	NC_000022.11:g.36282741T>C	gnomAD
MYH9	P35579	p.Ala1939Thr	RCV000155172	missense variant	-	NC_000022.11:g.36282736C>T	ClinVar
MYH9	P35579	p.Ala1939Thr	rs115031369	missense variant	-	NC_000022.11:g.36282736C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Gly1940Arg	RCV000037571	missense variant	-	NC_000022.11:g.36282733C>T	ClinVar
MYH9	P35579	p.Gly1940Arg	rs140588099	missense variant	-	NC_000022.11:g.36282733C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1941Ter	RCV000015131	frameshift	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36282733del	ClinVar
MYH9	P35579	p.Asp1941Gly	rs760289775	missense variant	-	NC_000022.11:g.36282729T>C	ExAC,gnomAD
MYH9	P35579	p.Asp1941Val	rs760289775	missense variant	-	NC_000022.11:g.36282729T>A	ExAC,gnomAD
MYH9	P35579	p.Gly1942Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.36282726C>T	NCI-TCGA
MYH9	P35579	p.Ser1943Phe	rs1403769723	missense variant	-	NC_000022.11:g.36282723G>A	gnomAD
MYH9	P35579	p.Asp1944Tyr	rs777918996	missense variant	-	NC_000022.11:g.36282721C>A	ExAC,gnomAD
MYH9	P35579	p.Asp1944Glu	rs761625286	missense variant	-	NC_000022.11:g.36282719G>T	ExAC,gnomAD
MYH9	P35579	p.Asp1944Asn	rs777918996	missense variant	-	NC_000022.11:g.36282721C>T	ExAC,gnomAD
MYH9	P35579	p.Glu1945Lys	rs1478233597	missense variant	-	NC_000022.11:g.36282718C>T	TOPMed,gnomAD
MYH9	P35579	p.Glu1946Val	rs774157099	missense variant	-	NC_000022.11:g.36282714T>A	ExAC
MYH9	P35579	p.Val1947Leu	rs768628153	missense variant	-	NC_000022.11:g.36282712C>G	ExAC,gnomAD
MYH9	P35579	p.Val1947Ile	rs768628153	missense variant	-	NC_000022.11:g.36282712C>T	ExAC,gnomAD
MYH9	P35579	p.Asp1948His	rs763195367	missense variant	-	NC_000022.11:g.36282709C>G	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1951Val	rs770189667	missense variant	-	NC_000022.11:g.36282699G>A	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Ala1951Thr	rs775685559	missense variant	-	NC_000022.11:g.36282700C>T	ExAC,TOPMed,gnomAD
MYH9	P35579	p.Asp1952Tyr	rs1247127142	missense variant	-	NC_000022.11:g.36282697C>A	TOPMed,gnomAD
MYH9	P35579	p.Asp1952His	rs1247127142	missense variant	-	NC_000022.11:g.36282697C>G	TOPMed,gnomAD
MYH9	P35579	p.Gly1953Ala	rs1272229371	missense variant	-	NC_000022.11:g.36282693C>G	gnomAD
MYH9	P35579	p.Gly1953Arg	rs200652984	missense variant	-	NC_000022.11:g.36282694C>T	1000Genomes,ExAC,gnomAD
MYH9	P35579	p.Ala1954Thr	COSM1416033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36282691C>T	NCI-TCGA Cosmic
MYH9	P35579	p.Lys1957Arg	rs771206414	missense variant	-	NC_000022.11:g.36282681T>C	ExAC,gnomAD
MYH9	P35579	p.Pro1958Thr	rs955332434	missense variant	-	NC_000022.11:g.36282679G>T	TOPMed
MYH9	P35579	p.Ala1959Thr	rs747338693	missense variant	-	NC_000022.11:g.36282676C>T	ExAC,gnomAD
MYH9	P35579	p.Glu1960Lys	rs149560153	missense variant	-	NC_000022.11:g.36282673C>T	ESP,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Gln4Ter	rs1337380916	stop gained	-	NC_000002.12:g.5692731C>T	gnomAD
SOX11	P35716	p.Ala5Thr	rs755780929	missense variant	-	NC_000002.12:g.5692734G>A	ExAC,gnomAD
SOX11	P35716	p.Ala5Glu	rs1273091935	missense variant	-	NC_000002.12:g.5692735C>A	gnomAD
SOX11	P35716	p.Leu8Phe	COSM721451	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692745G>T	NCI-TCGA Cosmic
SOX11	P35716	p.Ala10Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692750C>T	NCI-TCGA
SOX11	P35716	p.Glu11Ter	rs756768286	stop gained	-	NC_000002.12:g.5692752G>T	ExAC,gnomAD
SOX11	P35716	p.Glu11Asp	rs369950584	missense variant	-	NC_000002.12:g.5692754G>C	ESP,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ser12Asn	rs890630265	missense variant	-	NC_000002.12:g.5692756G>A	TOPMed,gnomAD
SOX11	P35716	p.Ser12Ile	rs890630265	missense variant	-	NC_000002.12:g.5692756G>T	TOPMed,gnomAD
SOX11	P35716	p.Ser12Arg	rs772578286	missense variant	-	NC_000002.12:g.5692757C>A	ExAC,gnomAD
SOX11	P35716	p.Asn13Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692758A>G	NCI-TCGA
SOX11	P35716	p.Pro15Ser	rs1164202412	missense variant	-	NC_000002.12:g.5692764C>T	gnomAD
SOX11	P35716	p.Pro15His	rs1017699278	missense variant	-	NC_000002.12:g.5692765C>A	TOPMed,gnomAD
SOX11	P35716	p.Arg16Gln	rs1411163388	missense variant	-	NC_000002.12:g.5692768G>A	gnomAD
SOX11	P35716	p.Arg16Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692768G>T	NCI-TCGA
SOX11	P35716	p.Glu17Gln	rs149438305	missense variant	-	NC_000002.12:g.5692770G>C	ESP,ExAC,gnomAD
SOX11	P35716	p.Ala18Val	rs768889757	missense variant	-	NC_000002.12:g.5692774C>T	ExAC,gnomAD
SOX11	P35716	p.Glu22Ala	rs773428827	missense variant	-	NC_000002.12:g.5692786A>C	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Glu22Gln	rs765299842	missense variant	-	NC_000002.12:g.5692785G>C	ExAC,gnomAD
SOX11	P35716	p.Gly24Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692791G>T	NCI-TCGA
SOX11	P35716	p.Glu25Ala	COSM4094943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692795A>C	NCI-TCGA Cosmic
SOX11	P35716	p.Glu25Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692794G>A	NCI-TCGA
SOX11	P35716	p.Met27Ile	rs1363221380	missense variant	-	NC_000002.12:g.5692802G>C	TOPMed,gnomAD
SOX11	P35716	p.Met27Thr	rs1481974602	missense variant	-	NC_000002.12:g.5692801T>C	TOPMed
SOX11	P35716	p.Met27Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692801T>G	NCI-TCGA
SOX11	P35716	p.Ala28Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692804C>T	NCI-TCGA
SOX11	P35716	p.Cys29Phe	rs959309748	missense variant	-	NC_000002.12:g.5692807G>T	TOPMed,gnomAD
SOX11	P35716	p.Cys29Tyr	rs959309748	missense variant	-	NC_000002.12:g.5692807G>A	TOPMed,gnomAD
SOX11	P35716	p.Pro31Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692813C>T	NCI-TCGA
SOX11	P35716	p.Val32Leu	rs991720486	missense variant	-	NC_000002.12:g.5692815G>T	TOPMed
SOX11	P35716	p.Leu34Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692822T>C	NCI-TCGA
SOX11	P35716	p.Asp35Glu	rs752503007	missense variant	-	NC_000002.12:g.5692826C>G	ExAC,gnomAD
SOX11	P35716	p.Asp35His	rs1316753803	missense variant	-	NC_000002.12:g.5692824G>C	TOPMed
SOX11	P35716	p.Ser37Asn	rs1242668001	missense variant	-	NC_000002.12:g.5692831G>A	gnomAD
SOX11	P35716	p.Asp38Gly	rs1476324230	missense variant	-	NC_000002.12:g.5692834A>G	gnomAD
SOX11	P35716	p.Asp40Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692839G>T	NCI-TCGA
SOX11	P35716	p.Ala45Val	COSM1227167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692855C>T	NCI-TCGA Cosmic
SOX11	P35716	p.Ser46Leu	COSM4434777	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692858C>T	NCI-TCGA Cosmic
SOX11	P35716	p.Ser46Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692857T>C	NCI-TCGA
SOX11	P35716	p.Lys50SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.5692868C>-	NCI-TCGA
SOX11	P35716	p.Met53Lys	COSM1021938	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692879T>A	NCI-TCGA Cosmic
SOX11	P35716	p.Met53Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692880G>T	NCI-TCGA
SOX11	P35716	p.Ala55Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692884G>A	NCI-TCGA
SOX11	P35716	p.Met57Val	COSM4094944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692890A>G	NCI-TCGA Cosmic
SOX11	P35716	p.Trp59Cys	rs758858972	missense variant	-	NC_000002.12:g.5692898G>C	ExAC,gnomAD
SOX11	P35716	p.Ser60Pro	RCV000128429	missense variant	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5692899T>C	ClinVar
SOX11	P35716	p.Ser60Pro	rs587777480	missense variant	Mental retardation, autosomal dominant 27 (mrd27)	NC_000002.12:g.5692899T>C	-
SOX11	P35716	p.Ser60Pro	rs587777480	missense variant	Mental retardation, autosomal dominant 27 (MRD27)	NC_000002.12:g.5692899T>C	UniProt,dbSNP
SOX11	P35716	p.Ser60Pro	VAR_071461	missense variant	Mental retardation, autosomal dominant 27 (MRD27)	NC_000002.12:g.5692899T>C	UniProt
SOX11	P35716	p.Ile62Met	rs1305912185	missense variant	-	NC_000002.12:g.5692907C>G	gnomAD
SOX11	P35716	p.Glu63Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692908G>A	NCI-TCGA
SOX11	P35716	p.Arg64Cys	COSM1021939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692911C>T	NCI-TCGA Cosmic
SOX11	P35716	p.Arg64Gly	RCV000483495	missense variant	-	NC_000002.12:g.5692911C>G	ClinVar
SOX11	P35716	p.Arg64Gly	rs1064794702	missense variant	-	NC_000002.12:g.5692911C>G	-
SOX11	P35716	p.Lys66Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692919G>T	NCI-TCGA
SOX11	P35716	p.Ile67Val	rs1284756290	missense variant	-	NC_000002.12:g.5692920A>G	gnomAD
SOX11	P35716	p.Gln70Pro	COSM4830579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692930A>C	NCI-TCGA Cosmic
SOX11	P35716	p.Pro72Ser	rs1448489215	missense variant	-	NC_000002.12:g.5692935C>T	gnomAD
SOX11	P35716	p.Pro72Ala	COSM4846715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5692935C>G	NCI-TCGA Cosmic
SOX11	P35716	p.Asn76LysPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.5692946_5692947insA	NCI-TCGA
SOX11	P35716	p.Glu78Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692953G>A	NCI-TCGA
SOX11	P35716	p.Ser80Cys	rs1553327809	missense variant	-	NC_000002.12:g.5692960C>G	-
SOX11	P35716	p.Ser80Cys	RCV000624664	missense variant	Inborn genetic diseases	NC_000002.12:g.5692960C>G	ClinVar
SOX11	P35716	p.Arg86Leu	rs202211730	missense variant	-	NC_000002.12:g.5692978G>T	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Lys88Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5692984A>C	NCI-TCGA
SOX11	P35716	p.Met89CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.5692983A>-	NCI-TCGA
SOX11	P35716	p.Leu90Met	rs770070167	missense variant	-	NC_000002.12:g.5692989C>A	ExAC,gnomAD
SOX11	P35716	p.Lys95Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693004A>C	NCI-TCGA
SOX11	P35716	p.Ile96Thr	rs763158621	missense variant	-	NC_000002.12:g.5693008T>C	ExAC,gnomAD
SOX11	P35716	p.Phe98Ter	RCV000735210	frameshift	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5693014del	ClinVar
SOX11	P35716	p.Arg100Gln	rs1064794628	missense variant	-	NC_000002.12:g.5693020G>A	gnomAD
SOX11	P35716	p.Arg100Trp	COSM3733645	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693019C>T	NCI-TCGA Cosmic
SOX11	P35716	p.Arg100Pro	RCV000481795	missense variant	-	NC_000002.12:g.5693020G>C	ClinVar
SOX11	P35716	p.Arg100Pro	rs1064794628	missense variant	-	NC_000002.12:g.5693020G>C	gnomAD
SOX11	P35716	p.Ala102Val	COSM4094946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693026C>T	NCI-TCGA Cosmic
SOX11	P35716	p.Arg104Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693031C>T	NCI-TCGA
SOX11	P35716	p.Leu105Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693034C>A	NCI-TCGA
SOX11	P35716	p.Arg106Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693037C>T	NCI-TCGA
SOX11	P35716	p.Lys108Glu	RCV000760282	missense variant	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5693043A>G	ClinVar
SOX11	P35716	p.Met110Ile	rs1182560635	missense variant	-	NC_000002.12:g.5693051G>A	TOPMed
SOX11	P35716	p.Pro114His	rs1280356263	missense variant	-	NC_000002.12:g.5693062C>A	gnomAD
SOX11	P35716	p.Asp115Tyr	COSM443056	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693064G>T	NCI-TCGA Cosmic
SOX11	P35716	p.Asp115Asn	rs1221789039	missense variant	-	NC_000002.12:g.5693064G>A	gnomAD
SOX11	P35716	p.Tyr116Cys	rs587777479	missense variant	Mental retardation, autosomal dominant 27 (mrd27)	NC_000002.12:g.5693068A>G	-
SOX11	P35716	p.Tyr116Cys	rs587777479	missense variant	Mental retardation, autosomal dominant 27 (MRD27)	NC_000002.12:g.5693068A>G	UniProt,dbSNP
SOX11	P35716	p.Tyr116Cys	VAR_071462	missense variant	Mental retardation, autosomal dominant 27 (MRD27)	NC_000002.12:g.5693068A>G	UniProt
SOX11	P35716	p.Tyr116Cys	RCV000128428	missense variant	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5693068A>G	ClinVar
SOX11	P35716	p.Tyr118Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693073T>A	NCI-TCGA
SOX11	P35716	p.Arg119Gln	rs749901648	missense variant	-	NC_000002.12:g.5693077G>A	ExAC,gnomAD
SOX11	P35716	p.Arg119Pro	RCV000623196	missense variant	Inborn genetic diseases	NC_000002.12:g.5693077G>C	ClinVar
SOX11	P35716	p.Arg119Pro	rs749901648	missense variant	-	NC_000002.12:g.5693077G>C	ExAC,gnomAD
SOX11	P35716	p.Pro120Thr	rs757949814	missense variant	-	NC_000002.12:g.5693079C>A	ExAC,gnomAD
SOX11	P35716	p.Arg121Trp	COSM4094947	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693082C>T	NCI-TCGA Cosmic
SOX11	P35716	p.Arg121Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693083G>T	NCI-TCGA
SOX11	P35716	p.Pro124AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.5693084_5693085insA	NCI-TCGA
SOX11	P35716	p.Lys125Arg	COSM4094948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693095A>G	NCI-TCGA Cosmic
SOX11	P35716	p.Met126Ile	rs1182148169	missense variant	-	NC_000002.12:g.5693099G>A	gnomAD
SOX11	P35716	p.Met126Thr	rs1485846444	missense variant	-	NC_000002.12:g.5693098T>C	TOPMed
SOX11	P35716	p.Asp127Glu	rs755512766	missense variant	-	NC_000002.12:g.5693102C>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Pro128His	rs1471365952	missense variant	-	NC_000002.12:g.5693104C>A	gnomAD
SOX11	P35716	p.Pro128Ser	rs573393747	missense variant	-	NC_000002.12:g.5693103C>T	1000Genomes,ExAC,TOPMed
SOX11	P35716	p.Pro128Thr	rs573393747	missense variant	-	NC_000002.12:g.5693103C>A	1000Genomes,ExAC,TOPMed
SOX11	P35716	p.Ser129Trp	rs1411909990	missense variant	-	NC_000002.12:g.5693107C>G	gnomAD
SOX11	P35716	p.Ala130Thr	rs1462477218	missense variant	-	NC_000002.12:g.5693109G>A	gnomAD
SOX11	P35716	p.Ala130Val	rs1167697596	missense variant	-	NC_000002.12:g.5693110C>T	gnomAD
SOX11	P35716	p.Ala130Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693110C>A	NCI-TCGA
SOX11	P35716	p.Lys131Asn	rs199680382	missense variant	-	NC_000002.12:g.5693114G>T	1000Genomes,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Pro132Leu	rs1386272998	missense variant	-	NC_000002.12:g.5693116C>T	gnomAD
SOX11	P35716	p.Ser133Arg	rs562403473	missense variant	-	NC_000002.12:g.5693120C>A	1000Genomes,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ser133Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693119G>C	NCI-TCGA
SOX11	P35716	p.Ser133Gly	rs991709110	missense variant	-	NC_000002.12:g.5693118A>G	TOPMed
SOX11	P35716	p.Ala134Val	rs374256122	missense variant	-	NC_000002.12:g.5693122C>T	ESP,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ala134Gly	rs374256122	missense variant	-	NC_000002.12:g.5693122C>G	ESP,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ala134Thr	rs749358189	missense variant	-	NC_000002.12:g.5693121G>A	ExAC,gnomAD
SOX11	P35716	p.Gln136Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693128A>G	NCI-TCGA
SOX11	P35716	p.Gln136Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693128A>C	NCI-TCGA
SOX11	P35716	p.Lys140Glu	rs1271177335	missense variant	-	NC_000002.12:g.5693139A>G	gnomAD
SOX11	P35716	p.Ser141Gly	rs1355052745	missense variant	-	NC_000002.12:g.5693142A>G	gnomAD
SOX11	P35716	p.Ala142Val	rs1252271637	missense variant	-	NC_000002.12:g.5693146C>T	gnomAD
SOX11	P35716	p.Gly144Ala	rs1475737480	missense variant	-	NC_000002.12:g.5693152G>C	gnomAD
SOX11	P35716	p.Gly144Ser	rs1251597664	missense variant	-	NC_000002.12:g.5693151G>A	gnomAD
SOX11	P35716	p.Gly144Cys	rs1251597664	missense variant	-	NC_000002.12:g.5693151G>T	gnomAD
SOX11	P35716	p.Gly146Ala	rs761704672	missense variant	-	NC_000002.12:g.5693158G>C	ExAC,gnomAD
SOX11	P35716	p.Gly146Asp	rs761704672	missense variant	-	NC_000002.12:g.5693158G>A	ExAC,gnomAD
SOX11	P35716	p.Gly147Ser	rs775298170	missense variant	-	NC_000002.12:g.5693160G>A	gnomAD
SOX11	P35716	p.Gly148Glu	rs1398697866	missense variant	-	NC_000002.12:g.5693164G>A	TOPMed,gnomAD
SOX11	P35716	p.Gly148Arg	rs764844599	missense variant	-	NC_000002.12:g.5693163G>A	ExAC,gnomAD
SOX11	P35716	p.Gly148Ala	rs1398697866	missense variant	-	NC_000002.12:g.5693164G>C	TOPMed,gnomAD
SOX11	P35716	p.Ser149Arg	rs943373465	missense variant	-	NC_000002.12:g.5693168C>A	TOPMed,gnomAD
SOX11	P35716	p.Ser149Arg	rs943373465	missense variant	-	NC_000002.12:g.5693168C>G	TOPMed,gnomAD
SOX11	P35716	p.Ala150Thr	rs750131174	missense variant	-	NC_000002.12:g.5693169G>A	ExAC,gnomAD
SOX11	P35716	p.Ala150Ser	rs750131174	missense variant	-	NC_000002.12:g.5693169G>T	ExAC,gnomAD
SOX11	P35716	p.Ala150Glu	rs1291365883	missense variant	-	NC_000002.12:g.5693170C>A	TOPMed,gnomAD
SOX11	P35716	p.Gly151Ser	rs1227551760	missense variant	-	NC_000002.12:g.5693172G>A	gnomAD
SOX11	P35716	p.Gly156Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693187G>A	NCI-TCGA
SOX11	P35716	p.Gly156Cys	rs1038912868	missense variant	-	NC_000002.12:g.5693187G>T	TOPMed,gnomAD
SOX11	P35716	p.Ala157Thr	rs1190433874	missense variant	-	NC_000002.12:g.5693190G>A	gnomAD
SOX11	P35716	p.Lys158Glu	rs1254711016	missense variant	-	NC_000002.12:g.5693193A>G	gnomAD
SOX11	P35716	p.Gly162Ser	rs781738124	missense variant	-	NC_000002.12:g.5693205G>A	ExAC,gnomAD
SOX11	P35716	p.Ser164Asn	rs1374927340	missense variant	-	NC_000002.12:g.5693212G>A	gnomAD
SOX11	P35716	p.Lys165Gln	rs1474457843	missense variant	-	NC_000002.12:g.5693214A>C	gnomAD
SOX11	P35716	p.Lys166Arg	rs752975676	missense variant	-	NC_000002.12:g.5693218A>G	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Cys167Ser	rs946669836	missense variant	-	NC_000002.12:g.5693221G>C	TOPMed
SOX11	P35716	p.Leu170Ile	rs1376216339	missense variant	-	NC_000002.12:g.5693229C>A	gnomAD
SOX11	P35716	p.Lys171Ter	rs1553327863	stop gained	-	NC_000002.12:g.5693232A>T	-
SOX11	P35716	p.Lys171Ter	RCV000512828	nonsense	-	NC_000002.12:g.5693232A>T	ClinVar
SOX11	P35716	p.Ala174Glu	rs902373698	missense variant	-	NC_000002.12:g.5693242C>A	TOPMed,gnomAD
SOX11	P35716	p.Ala174Thr	rs1436393730	missense variant	-	NC_000002.12:g.5693241G>A	gnomAD
SOX11	P35716	p.Ala176Thr	rs1340253906	missense variant	-	NC_000002.12:g.5693247G>A	gnomAD
SOX11	P35716	p.Ala178Pro	rs1384818454	missense variant	-	NC_000002.12:g.5693253G>C	TOPMed
SOX11	P35716	p.Ala180Thr	rs1297634063	missense variant	-	NC_000002.12:g.5693259G>A	TOPMed,gnomAD
SOX11	P35716	p.Ala180Glu	rs1035189329	missense variant	-	NC_000002.12:g.5693260C>A	TOPMed,gnomAD
SOX11	P35716	p.Gly181Val	rs1349218134	missense variant	-	NC_000002.12:g.5693263G>T	gnomAD
SOX11	P35716	p.Gly181Ser	rs1420816592	missense variant	-	NC_000002.12:g.5693262G>A	TOPMed
SOX11	P35716	p.Ala182Ser	rs1478438158	missense variant	-	NC_000002.12:g.5693265G>T	TOPMed
SOX11	P35716	p.Ala182Gly	rs1208615367	missense variant	-	NC_000002.12:g.5693266C>G	gnomAD
SOX11	P35716	p.Gly183Ser	rs894770529	missense variant	-	NC_000002.12:g.5693268G>A	TOPMed,gnomAD
SOX11	P35716	p.Gly183Cys	rs894770529	missense variant	-	NC_000002.12:g.5693268G>T	TOPMed,gnomAD
SOX11	P35716	p.Lys184Arg	rs1268368634	missense variant	-	NC_000002.12:g.5693272A>G	TOPMed
SOX11	P35716	p.Ala185Glu	rs1195435511	missense variant	-	NC_000002.12:g.5693275C>A	TOPMed
SOX11	P35716	p.Ala186Gly	rs1208248317	missense variant	-	NC_000002.12:g.5693278C>G	gnomAD
SOX11	P35716	p.Gln187His	rs1462673426	missense variant	-	NC_000002.12:g.5693282G>C	TOPMed,gnomAD
SOX11	P35716	p.Gly189Arg	rs1260086974	missense variant	-	NC_000002.12:g.5693286G>A	TOPMed
SOX11	P35716	p.Asp190Tyr	rs377528494	missense variant	-	NC_000002.12:g.5693289G>T	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Gly192Val	rs1463602758	missense variant	-	NC_000002.12:g.5693296G>T	gnomAD
SOX11	P35716	p.Gly193Asp	rs745988357	missense variant	-	NC_000002.12:g.5693299G>A	ExAC,gnomAD
SOX11	P35716	p.Gly193Ser	rs779081464	missense variant	-	NC_000002.12:g.5693298G>A	ExAC,gnomAD
SOX11	P35716	p.Ala194Thr	rs1171980257	missense variant	-	NC_000002.12:g.5693301G>A	TOPMed,gnomAD
SOX11	P35716	p.Gly195Asp	rs1454109830	missense variant	-	NC_000002.12:g.5693305G>A	TOPMed,gnomAD
SOX11	P35716	p.Gly195Ser	rs1376928154	missense variant	-	NC_000002.12:g.5693304G>A	gnomAD
SOX11	P35716	p.Asp196Glu	rs544581532	missense variant	-	NC_000002.12:g.5693309C>G	1000Genomes,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp196Glu	rs544581532	missense variant	-	NC_000002.12:g.5693309C>A	1000Genomes,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp196Asn	rs776676775	missense variant	-	NC_000002.12:g.5693307G>A	ExAC,gnomAD
SOX11	P35716	p.Asp196Tyr	rs776676775	missense variant	-	NC_000002.12:g.5693307G>T	ExAC,gnomAD
SOX11	P35716	p.Asp197His	rs564494780	missense variant	-	NC_000002.12:g.5693310G>C	1000Genomes,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp197Asn	rs564494780	missense variant	-	NC_000002.12:g.5693310G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Tyr198Ter	RCV000414399	nonsense	-	NC_000002.12:g.5693315C>A	ClinVar
SOX11	P35716	p.Tyr198Ter	rs1057518187	stop gained	-	NC_000002.12:g.5693315C>A	-
SOX11	P35716	p.Tyr198Cys	rs766041973	missense variant	-	NC_000002.12:g.5693314A>G	ExAC,gnomAD
SOX11	P35716	p.Val199Leu	rs773695032	missense variant	-	NC_000002.12:g.5693316G>C	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Leu203Met	rs753307477	missense variant	-	NC_000002.12:g.5693328C>A	ExAC,gnomAD
SOX11	P35716	p.Leu203Val	rs753307477	missense variant	-	NC_000002.12:g.5693328C>G	ExAC,gnomAD
SOX11	P35716	p.Arg204Pro	rs764489337	missense variant	-	NC_000002.12:g.5693332G>C	ExAC,gnomAD
SOX11	P35716	p.Arg204Leu	rs764489337	missense variant	-	NC_000002.12:g.5693332G>T	ExAC,gnomAD
SOX11	P35716	p.Arg204Cys	rs756544888	missense variant	-	NC_000002.12:g.5693331C>T	ExAC,gnomAD
SOX11	P35716	p.Val205Gly	rs1479245018	missense variant	-	NC_000002.12:g.5693335T>G	TOPMed
SOX11	P35716	p.Val205Met	rs1208628926	missense variant	-	NC_000002.12:g.5693334G>A	gnomAD
SOX11	P35716	p.Gly207Arg	rs1468575248	missense variant	-	NC_000002.12:g.5693340G>C	gnomAD
SOX11	P35716	p.Gly207Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693340G>A	NCI-TCGA
SOX11	P35716	p.Ser208Leu	rs1469878578	missense variant	-	NC_000002.12:g.5693344C>T	gnomAD
SOX11	P35716	p.Gly209Asp	rs1189755341	missense variant	-	NC_000002.12:g.5693347G>A	gnomAD
SOX11	P35716	p.Gly210Cys	rs748010810	missense variant	-	NC_000002.12:g.5693349G>T	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Gly210Arg	rs748010810	missense variant	-	NC_000002.12:g.5693349G>C	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Gly212Asp	rs1456675614	missense variant	-	NC_000002.12:g.5693356G>A	gnomAD
SOX11	P35716	p.Gly212Ser	rs1409457496	missense variant	-	NC_000002.12:g.5693355G>A	gnomAD
SOX11	P35716	p.Ala213Glu	rs770541398	missense variant	-	NC_000002.12:g.5693359C>A	ExAC,gnomAD
SOX11	P35716	p.Gly214Asp	rs1438003053	missense variant	-	NC_000002.12:g.5693362G>A	gnomAD
SOX11	P35716	p.Thr216Met	rs1373555541	missense variant	-	NC_000002.12:g.5693368C>T	gnomAD
SOX11	P35716	p.Val217Ala	rs1309670314	missense variant	-	NC_000002.12:g.5693371T>C	gnomAD
SOX11	P35716	p.Val220Met	rs758958162	missense variant	-	NC_000002.12:g.5693379G>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp223Asn	rs1228396860	missense variant	-	NC_000002.12:g.5693388G>A	TOPMed,gnomAD
SOX11	P35716	p.Asp225Gly	rs767125292	missense variant	-	NC_000002.12:g.5693395A>G	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp226Glu	rs1337057292	missense variant	-	NC_000002.12:g.5693399C>A	gnomAD
SOX11	P35716	p.Asp227Asn	rs774871082	missense variant	-	NC_000002.12:g.5693400G>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp227His	rs774871082	missense variant	-	NC_000002.12:g.5693400G>C	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp227Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693402C>A	NCI-TCGA
SOX11	P35716	p.Asp227Glu	rs761209390	missense variant	-	NC_000002.12:g.5693402C>G	ExAC,gnomAD
SOX11	P35716	p.Asp228Glu	rs764724459	missense variant	-	NC_000002.12:g.5693405C>A	ExAC,gnomAD
SOX11	P35716	p.Asp228Glu	rs764724459	missense variant	-	NC_000002.12:g.5693405C>G	ExAC,gnomAD
SOX11	P35716	p.Asp228Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693403G>A	NCI-TCGA
SOX11	P35716	p.Asp230Asn	rs1179136145	missense variant	-	NC_000002.12:g.5693409G>A	gnomAD
SOX11	P35716	p.Asp230Val	rs754220187	missense variant	-	NC_000002.12:g.5693410A>T	ExAC,gnomAD
SOX11	P35716	p.Asp230Glu	rs757741965	missense variant	-	NC_000002.12:g.5693411C>A	ExAC,gnomAD
SOX11	P35716	p.Asp231Gly	rs765361062	missense variant	-	NC_000002.12:g.5693413A>G	ExAC,gnomAD
SOX11	P35716	p.Asp231Glu	rs750721557	missense variant	-	NC_000002.12:g.5693414C>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp232Asn	rs1403124561	missense variant	-	NC_000002.12:g.5693415G>A	TOPMed,gnomAD
SOX11	P35716	p.Asp233Asn	rs1042297449	missense variant	-	NC_000002.12:g.5693418G>A	TOPMed,gnomAD
SOX11	P35716	p.Asp233Glu	rs1354586764	missense variant	-	NC_000002.12:g.5693420C>A	TOPMed,gnomAD
SOX11	P35716	p.Asp233Glu	rs1354586764	missense variant	-	NC_000002.12:g.5693420C>G	TOPMed,gnomAD
SOX11	P35716	p.Asp233His	rs1042297449	missense variant	-	NC_000002.12:g.5693418G>C	TOPMed,gnomAD
SOX11	P35716	p.Glu234Gln	rs780122780	missense variant	-	NC_000002.12:g.5693421G>C	ExAC,gnomAD
SOX11	P35716	p.Glu234Gly	rs751660162	missense variant	-	NC_000002.12:g.5693422A>G	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Leu235Met	rs756004827	missense variant	-	NC_000002.12:g.5693424C>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Leu237Val	rs140772793	missense variant	-	NC_000002.12:g.5693430C>G	ESP,ExAC,TOPMed,gnomAD
SOX11	P35716	p.Leu237Gln	rs1226706343	missense variant	-	NC_000002.12:g.5693431T>A	TOPMed,gnomAD
SOX11	P35716	p.Leu237Val	RCV000500849	missense variant	-	NC_000002.12:g.5693430C>G	ClinVar
SOX11	P35716	p.Gln238His	rs1256714607	missense variant	-	NC_000002.12:g.5693435G>C	TOPMed
SOX11	P35716	p.Gln238Lys	COSM6158313	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693433C>A	NCI-TCGA Cosmic
SOX11	P35716	p.Lys240Arg	rs778428159	missense variant	-	NC_000002.12:g.5693440A>G	ExAC,TOPMed
SOX11	P35716	p.Gln241Arg	rs745460988	missense variant	-	NC_000002.12:g.5693443A>G	ExAC,gnomAD
SOX11	P35716	p.Glu242Gln	rs1206958743	missense variant	-	NC_000002.12:g.5693445G>C	gnomAD
SOX11	P35716	p.Pro243Ala	rs771639613	missense variant	-	NC_000002.12:g.5693448C>G	ExAC,gnomAD
SOX11	P35716	p.Asp244Glu	rs769259145	missense variant	-	NC_000002.12:g.5693453C>G	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp244Glu	rs769259145	missense variant	-	NC_000002.12:g.5693453C>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Asp244Asn	rs760297024	missense variant	-	NC_000002.12:g.5693451G>A	ExAC,gnomAD
SOX11	P35716	p.Glu245Lys	rs1471796361	missense variant	-	NC_000002.12:g.5693454G>A	TOPMed,gnomAD
SOX11	P35716	p.Glu245Gln	rs1471796361	missense variant	-	NC_000002.12:g.5693454G>C	TOPMed,gnomAD
SOX11	P35716	p.Asp247Tyr	rs755851269	missense variant	-	NC_000002.12:g.5693460G>T	ExAC,gnomAD
SOX11	P35716	p.Glu248Lys	rs765568135	missense variant	-	NC_000002.12:g.5693463G>A	ExAC,gnomAD
SOX11	P35716	p.Glu248Gln	rs765568135	missense variant	-	NC_000002.12:g.5693463G>C	ExAC,gnomAD
SOX11	P35716	p.Glu249Lys	rs1166348174	missense variant	-	NC_000002.12:g.5693466G>A	gnomAD
SOX11	P35716	p.Pro250Thr	rs1355135739	missense variant	-	NC_000002.12:g.5693469C>A	TOPMed
SOX11	P35716	p.Pro251Gln	rs1313818654	missense variant	-	NC_000002.12:g.5693473C>A	gnomAD
SOX11	P35716	p.Pro251Thr	rs1429550919	missense variant	-	NC_000002.12:g.5693472C>A	gnomAD
SOX11	P35716	p.Gln254Lys	rs1362764728	missense variant	-	NC_000002.12:g.5693481C>A	gnomAD
SOX11	P35716	p.Leu255Phe	rs1281925996	missense variant	-	NC_000002.12:g.5693484C>T	TOPMed
SOX11	P35716	p.Pro258Thr	rs755100945	missense variant	-	NC_000002.12:g.5693493C>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Pro258Gln	rs868349180	missense variant	-	NC_000002.12:g.5693494C>A	gnomAD
SOX11	P35716	p.Pro259Leu	rs866041767	missense variant	-	NC_000002.12:g.5693497C>T	TOPMed,gnomAD
SOX11	P35716	p.Gly260Glu	rs757148387	missense variant	-	NC_000002.12:g.5693500G>A	ExAC,gnomAD
SOX11	P35716	p.Gln261Ter	rs1186080588	stop gained	-	NC_000002.12:g.5693502C>T	TOPMed,gnomAD
SOX11	P35716	p.Gln261Lys	rs1186080588	missense variant	-	NC_000002.12:g.5693502C>A	TOPMed,gnomAD
SOX11	P35716	p.Pro263Thr	rs745675837	missense variant	-	NC_000002.12:g.5693508C>A	ExAC,gnomAD
SOX11	P35716	p.Pro263Leu	rs779898240	missense variant	-	NC_000002.12:g.5693509C>T	ExAC,gnomAD
SOX11	P35716	p.Pro263Ser	rs745675837	missense variant	-	NC_000002.12:g.5693508C>T	ExAC,gnomAD
SOX11	P35716	p.Ser264Ter	rs1553327954	stop gained	-	NC_000002.12:g.5693512C>A	-
SOX11	P35716	p.Ser264Ter	RCV000623171	nonsense	Inborn genetic diseases	NC_000002.12:g.5693512C>A	ClinVar
SOX11	P35716	p.Leu267Gln	rs762321557	missense variant	-	NC_000002.12:g.5693521T>A	ExAC,gnomAD
SOX11	P35716	p.Arg269His	rs770223329	missense variant	-	NC_000002.12:g.5693527G>A	ExAC,gnomAD
SOX11	P35716	p.Tyr270His	rs1437389899	missense variant	-	NC_000002.12:g.5693529T>C	gnomAD
SOX11	P35716	p.Asn271His	rs1364504443	missense variant	-	NC_000002.12:g.5693532A>C	gnomAD
SOX11	P35716	p.Val272Leu	rs763266934	missense variant	-	NC_000002.12:g.5693535G>C	ExAC,gnomAD
SOX11	P35716	p.Ala273Ser	rs1276818965	missense variant	-	NC_000002.12:g.5693538G>T	TOPMed,gnomAD
SOX11	P35716	p.Ala273Pro	rs1276818965	missense variant	-	NC_000002.12:g.5693538G>C	TOPMed,gnomAD
SOX11	P35716	p.Pro276Ser	rs1218359229	missense variant	-	NC_000002.12:g.5693547C>T	gnomAD
SOX11	P35716	p.Thr280Met	rs1284912385	missense variant	-	NC_000002.12:g.5693560C>T	gnomAD
SOX11	P35716	p.Ser282Asn	rs1246927388	missense variant	-	NC_000002.12:g.5693566G>A	gnomAD
SOX11	P35716	p.Ser287Pro	rs971298974	missense variant	-	NC_000002.12:g.5693580T>C	gnomAD
SOX11	P35716	p.Ser287Thr	rs971298974	missense variant	-	NC_000002.12:g.5693580T>A	gnomAD
SOX11	P35716	p.Ala291Glu	rs765121971	missense variant	-	NC_000002.12:g.5693593C>A	ExAC,gnomAD
SOX11	P35716	p.Ala291Gly	rs765121971	missense variant	-	NC_000002.12:g.5693593C>G	ExAC,gnomAD
SOX11	P35716	p.Asp295Glu	rs1388073236	missense variant	-	NC_000002.12:g.5693606C>G	TOPMed,gnomAD
SOX11	P35716	p.Asp295Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693605A>T	NCI-TCGA
SOX11	P35716	p.Glu296Ter	rs1441654871	stop gained	-	NC_000002.12:g.5693607G>T	gnomAD
SOX11	P35716	p.Val297Ala	rs779845221	missense variant	-	NC_000002.12:g.5693611T>C	ExAC,gnomAD
SOX11	P35716	p.Arg298Gln	rs1435531266	missense variant	-	NC_000002.12:g.5693614G>A	gnomAD
SOX11	P35716	p.Ala301Glu	rs780798415	missense variant	-	NC_000002.12:g.5693623C>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ala301Val	rs780798415	missense variant	-	NC_000002.12:g.5693623C>T	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ala301Gly	rs780798415	missense variant	-	NC_000002.12:g.5693623C>G	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Thr302Ile	rs1267359699	missense variant	-	NC_000002.12:g.5693626C>T	gnomAD
SOX11	P35716	p.Ser303Leu	rs1252447458	missense variant	-	NC_000002.12:g.5693629C>T	gnomAD
SOX11	P35716	p.Ser303Thr	rs1334919509	missense variant	-	NC_000002.12:g.5693628T>A	gnomAD
SOX11	P35716	p.Gly304Cys	rs1287329032	missense variant	-	NC_000002.12:g.5693631G>T	gnomAD
SOX11	P35716	p.Ala305Pro	rs773641572	missense variant	-	NC_000002.12:g.5693634G>C	ExAC,gnomAD
SOX11	P35716	p.Ala305Ser	rs773641572	missense variant	-	NC_000002.12:g.5693634G>T	ExAC,gnomAD
SOX11	P35716	p.Gly307Val	rs1476800720	missense variant	-	NC_000002.12:g.5693641G>T	TOPMed
SOX11	P35716	p.Gly307Cys	rs1180668384	missense variant	-	NC_000002.12:g.5693640G>T	TOPMed,gnomAD
SOX11	P35716	p.Gly308Ser	rs759699166	missense variant	-	NC_000002.12:g.5693643G>A	ExAC,gnomAD
SOX11	P35716	p.Ser309Asn	rs1388644510	missense variant	-	NC_000002.12:g.5693647G>A	TOPMed,gnomAD
SOX11	P35716	p.Ser309Cys	rs767752007	missense variant	-	NC_000002.12:g.5693646A>T	ExAC,gnomAD
SOX11	P35716	p.Arg310His	rs775602980	missense variant	-	NC_000002.12:g.5693650G>A	ExAC,gnomAD
SOX11	P35716	p.Leu311His	rs760713336	missense variant	-	NC_000002.12:g.5693653T>A	ExAC,gnomAD
SOX11	P35716	p.Ile318Met	rs1287678940	missense variant	-	NC_000002.12:g.5693675C>G	gnomAD
SOX11	P35716	p.Lys320Gln	rs1355953682	missense variant	-	NC_000002.12:g.5693679A>C	gnomAD
SOX11	P35716	p.Gln321Ter	rs1246870502	stop gained	-	NC_000002.12:g.5693682C>T	gnomAD
SOX11	P35716	p.His322Ter	RCV000627527	frameshift	-	NC_000002.12:g.5693686_5693704del	ClinVar
SOX11	P35716	p.Pro323Arg	rs1355029618	missense variant	-	NC_000002.12:g.5693689C>G	gnomAD
SOX11	P35716	p.Pro324Leu	rs1276263281	missense variant	-	NC_000002.12:g.5693692C>T	gnomAD
SOX11	P35716	p.Ala330Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693709G>A	NCI-TCGA
SOX11	P35716	p.Ala330Val	rs747671372	missense variant	-	NC_000002.12:g.5693710C>T	ExAC,gnomAD
SOX11	P35716	p.Leu331Arg	rs1481369496	missense variant	-	NC_000002.12:g.5693713T>G	TOPMed,gnomAD
SOX11	P35716	p.Ser332Leu	rs1472474340	missense variant	-	NC_000002.12:g.5693716C>T	TOPMed,gnomAD
SOX11	P35716	p.Ala334Val	rs749826506	missense variant	-	NC_000002.12:g.5693722C>T	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ser335Cys	rs774743661	missense variant	-	NC_000002.12:g.5693725C>G	ExAC,gnomAD
SOX11	P35716	p.Ser335Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693724T>A	NCI-TCGA
SOX11	P35716	p.Ser336Leu	rs1375803449	missense variant	-	NC_000002.12:g.5693728C>T	gnomAD
SOX11	P35716	p.Arg337Leu	rs772309412	missense variant	-	NC_000002.12:g.5693731G>T	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Arg337His	rs772309412	missense variant	-	NC_000002.12:g.5693731G>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ser338Leu	rs1339382294	missense variant	-	NC_000002.12:g.5693734C>T	gnomAD
SOX11	P35716	p.Val339Met	rs1227439657	missense variant	-	NC_000002.12:g.5693736G>A	gnomAD
SOX11	P35716	p.Ser343Trp	rs1339574821	missense variant	-	NC_000002.12:g.5693749C>G	gnomAD
SOX11	P35716	p.Ser344Thr	rs775521809	missense variant	-	NC_000002.12:g.5693751T>A	ExAC,gnomAD
SOX11	P35716	p.Ser345Arg	rs1483782583	missense variant	-	NC_000002.12:g.5693756C>A	TOPMed,gnomAD
SOX11	P35716	p.Ser345Asn	rs1274427173	missense variant	-	NC_000002.12:g.5693755G>A	gnomAD
SOX11	P35716	p.Ser347Arg	rs760818536	missense variant	-	NC_000002.12:g.5693762C>G	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ser347Gly	rs1202768939	missense variant	-	NC_000002.12:g.5693760A>G	gnomAD
SOX11	P35716	p.Ser350Arg	rs1409527492	missense variant	-	NC_000002.12:g.5693771C>G	gnomAD
SOX11	P35716	p.Gly352Val	rs766389339	missense variant	-	NC_000002.12:g.5693776G>T	ExAC,gnomAD
SOX11	P35716	p.Gly352Arg	rs776762311	missense variant	-	NC_000002.12:g.5693775G>C	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Gly352Cys	rs776762311	missense variant	-	NC_000002.12:g.5693775G>T	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Gly352Ser	rs776762311	missense variant	-	NC_000002.12:g.5693775G>A	ExAC,TOPMed,gnomAD
SOX11	P35716	p.Ser353Asn	rs1447931988	missense variant	-	NC_000002.12:g.5693779G>A	gnomAD
SOX11	P35716	p.Gly355Asp	rs1395519132	missense variant	-	NC_000002.12:g.5693785G>A	gnomAD
SOX11	P35716	p.Gly355Ser	rs751432316	missense variant	-	NC_000002.12:g.5693784G>A	ExAC,gnomAD
SOX11	P35716	p.Asp357His	rs767290813	missense variant	-	NC_000002.12:g.5693790G>C	ExAC,gnomAD
SOX11	P35716	p.Asp357Asn	rs767290813	missense variant	-	NC_000002.12:g.5693790G>A	ExAC,gnomAD
SOX11	P35716	p.Met362Val	rs1362366101	missense variant	-	NC_000002.12:g.5693805A>G	gnomAD
SOX11	P35716	p.Phe363Leu	rs1403614666	missense variant	-	NC_000002.12:g.5693810C>G	gnomAD
SOX11	P35716	p.Ser366Cys	rs974822756	missense variant	-	NC_000002.12:g.5693817A>T	TOPMed
SOX11	P35716	p.Phe369Leu	rs1313151836	missense variant	-	NC_000002.12:g.5693828C>A	gnomAD
SOX11	P35716	p.Ser370Phe	rs991368727	missense variant	-	NC_000002.12:g.5693830C>T	TOPMed
SOX11	P35716	p.Ser372Arg	rs1235827793	missense variant	-	NC_000002.12:g.5693837C>A	gnomAD
SOX11	P35716	p.His374Arg	rs1344979183	missense variant	-	NC_000002.12:g.5693842A>G	gnomAD
SOX11	P35716	p.Ser375Arg	rs1377727959	missense variant	-	NC_000002.12:g.5693846C>G	TOPMed
SOX11	P35716	p.Ser375Asn	rs1449180406	missense variant	-	NC_000002.12:g.5693845G>A	TOPMed
SOX11	P35716	p.Ala376Ser	rs1209872000	missense variant	-	NC_000002.12:g.5693847G>T	gnomAD
SOX11	P35716	p.Ser377Arg	rs762687158	missense variant	-	NC_000002.12:g.5693852C>G	TOPMed,gnomAD
SOX11	P35716	p.Gln380Leu	rs757798729	missense variant	-	NC_000002.12:g.5693860A>T	ExAC,gnomAD
SOX11	P35716	p.Leu381Arg	rs1188178837	missense variant	-	NC_000002.12:g.5693863T>G	TOPMed,gnomAD
SOX11	P35716	p.Leu381Pro	rs1188178837	missense variant	-	NC_000002.12:g.5693863T>C	TOPMed,gnomAD
SOX11	P35716	p.Gly383Asp	rs1173636535	missense variant	-	NC_000002.12:g.5693869G>A	gnomAD
SOX11	P35716	p.Gly384ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.5693863_5693864insG	NCI-TCGA
SOX11	P35716	p.Ala385Ter	RCV000412808	frameshift	-	NC_000002.12:g.5693874_5693881del	ClinVar
SOX11	P35716	p.Ala385Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693875C>T	NCI-TCGA
SOX11	P35716	p.Ala386Gly	rs1454287063	missense variant	-	NC_000002.12:g.5693878C>G	gnomAD
SOX11	P35716	p.Asn389Ter	RCV000623189	frameshift	Inborn genetic diseases	NC_000002.12:g.5693885_5693897del	ClinVar
SOX11	P35716	p.Lys397Thr	rs1189353231	missense variant	-	NC_000002.12:g.5693911A>C	gnomAD
SOX11	P35716	p.Asp398Tyr	COSM1565527	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693913G>T	NCI-TCGA Cosmic
SOX11	P35716	p.Asp400Asn	rs1482580454	missense variant	-	NC_000002.12:g.5693919G>A	TOPMed
SOX11	P35716	p.Ser401Leu	rs1229609930	missense variant	-	NC_000002.12:g.5693923C>T	gnomAD
SOX11	P35716	p.Phe402Leu	rs1212106612	missense variant	-	NC_000002.12:g.5693925T>C	TOPMed
SOX11	P35716	p.Ser403Arg	rs1208145337	missense variant	-	NC_000002.12:g.5693930C>A	TOPMed,gnomAD
SOX11	P35716	p.Ser406Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693938G>T	NCI-TCGA
SOX11	P35716	p.His410Asn	rs1189662451	missense variant	-	NC_000002.12:g.5693949C>A	gnomAD
SOX11	P35716	p.Phe411Ile	rs1428529342	missense variant	-	NC_000002.12:g.5693952T>A	gnomAD
SOX11	P35716	p.Glu412Lys	rs1266498989	missense variant	-	NC_000002.12:g.5693955G>A	gnomAD
SOX11	P35716	p.Glu412Ter	COSM35844	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.5693955G>T	NCI-TCGA Cosmic
SOX11	P35716	p.Tyr416Cys	COSM1408744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.5693968A>G	NCI-TCGA Cosmic
SOX11	P35716	p.Cys417Ser	rs1317674231	missense variant	-	NC_000002.12:g.5693970T>A	TOPMed
SOX11	P35716	p.Glu423Lys	rs1409607021	missense variant	-	NC_000002.12:g.5693988G>A	gnomAD
SOX11	P35716	p.Ile425Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693994A>C	NCI-TCGA
SOX11	P35716	p.Ala426Gly	rs761946808	missense variant	-	NC_000002.12:g.5693998C>G	ExAC,gnomAD
SOX11	P35716	p.Ala426Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5693998C>T	NCI-TCGA
SOX11	P35716	p.Asp428Tyr	rs774373152	missense variant	-	NC_000002.12:g.5694003G>T	ExAC,gnomAD
SOX11	P35716	p.Trp429Arg	rs1394318840	missense variant	-	NC_000002.12:g.5694006T>A	TOPMed
SOX11	P35716	p.Trp429Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5694007G>C	NCI-TCGA
SOX11	P35716	p.Trp429Ter	RCV000414848	nonsense	Mental retardation, autosomal dominant 27 (CSS9)	NC_000002.12:g.5694007G>A	ClinVar
SOX11	P35716	p.Trp429Ter	rs1057518672	stop gained	-	NC_000002.12:g.5694007G>A	-
SOX11	P35716	p.Glu431Gly	rs759409441	missense variant	-	NC_000002.12:g.5694013A>G	ExAC,gnomAD
SOX11	P35716	p.Ala432Gly	rs767281459	missense variant	-	NC_000002.12:g.5694016C>G	ExAC
SOX11	P35716	p.Ala432Val	rs767281459	missense variant	-	NC_000002.12:g.5694016C>T	ExAC
SOX11	P35716	p.Ala432Thr	rs1390480045	missense variant	-	NC_000002.12:g.5694015G>A	gnomAD
SOX11	P35716	p.Phe434Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.5694023C>A	NCI-TCGA
BMPR1A	P36894	p.Met1Val	RCV000166343	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>G	ClinVar
BMPR1A	P36894	p.Met1Ile	RCV000210125	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876021G>C	ClinVar
BMPR1A	P36894	p.Met1Leu	RCV000492794	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>C	ClinVar
BMPR1A	P36894	p.Met1Val	RCV000556943	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876019A>G	ClinVar
BMPR1A	P36894	p.Pro2Arg	rs143248687	missense variant	-	NC_000010.11:g.86876023C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Thr	RCV000131909	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000525840	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000120253	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	rs11528010	missense variant	-	NC_000010.11:g.86876022C>A	UniProt,dbSNP
BMPR1A	P36894	p.Pro2Thr	VAR_041397	missense variant	-	NC_000010.11:g.86876022C>A	UniProt
BMPR1A	P36894	p.Pro2Thr	rs11528010	missense variant	-	NC_000010.11:g.86876022C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Leu	rs143248687	missense variant	-	NC_000010.11:g.86876023C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Leu	RCV000411290	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Pro2Leu	RCV000562590	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000034703	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Leu	RCV000588955	missense variant	-	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000309392	missense variant	Juvenile Polyposis	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Gln3Pro	rs1554886804	missense variant	-	NC_000010.11:g.86876026A>C	-
BMPR1A	P36894	p.Gln3Pro	RCV000580930	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876026A>C	ClinVar
BMPR1A	P36894	p.Tyr5Ter	rs1392086533	stop gained	-	NC_000010.11:g.86876033C>A	gnomAD
BMPR1A	P36894	p.Tyr5Ter	RCV000565507	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876033C>A	ClinVar
BMPR1A	P36894	p.Tyr7His	rs762926643	missense variant	-	NC_000010.11:g.86876037T>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr7His	RCV000705938	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876037T>C	ClinVar
BMPR1A	P36894	p.Tyr7His	RCV000582252	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876037T>C	ClinVar
BMPR1A	P36894	p.Ile8Val	rs863224719	missense variant	-	NC_000010.11:g.86876040A>G	TOPMed
BMPR1A	P36894	p.Ile8Val	RCV000195699	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876040A>G	ClinVar
BMPR1A	P36894	p.Ile8Val	RCV000214029	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876040A>G	ClinVar
BMPR1A	P36894	p.Arg9Thr	RCV000523833	missense variant	-	NC_000010.11:g.86876044G>C	ClinVar
BMPR1A	P36894	p.Arg9Thr	rs766269417	missense variant	-	NC_000010.11:g.86876044G>C	ExAC,gnomAD
BMPR1A	P36894	p.Ala13Thr	RCV000233196	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876055G>A	ClinVar
BMPR1A	P36894	p.Ala13Thr	rs200115604	missense variant	-	NC_000010.11:g.86876055G>A	1000Genomes,TOPMed
BMPR1A	P36894	p.Ala13Gly	rs754015069	missense variant	-	NC_000010.11:g.86876056C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ala13Thr	RCV000572173	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876055G>A	ClinVar
BMPR1A	P36894	p.Tyr14Ter	RCV000657333	frameshift	-	NC_000010.11:g.86876058dup	ClinVar
BMPR1A	P36894	p.Tyr14Ter	RCV000759483	frameshift	-	NC_000010.11:g.86876057del	ClinVar
BMPR1A	P36894	p.Leu15Ter	RCV000635432	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876062_86876065del	ClinVar
BMPR1A	P36894	p.Phe16Tyr	rs151235720	missense variant	-	NC_000010.11:g.86876065T>A	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Phe16Cys	rs151235720	missense variant	-	NC_000010.11:g.86876065T>G	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Phe16Cys	RCV000159833	missense variant	-	NC_000010.11:g.86876065T>G	ClinVar
BMPR1A	P36894	p.Ile17Leu	RCV000758774	missense variant	-	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile17Leu	rs778886055	missense variant	-	NC_000010.11:g.86876067A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile17Val	rs778886055	missense variant	-	NC_000010.11:g.86876067A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile17Leu	RCV000701225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile17Leu	RCV000216319	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile18Thr	rs745920240	missense variant	-	NC_000010.11:g.86876071T>C	ExAC,gnomAD
BMPR1A	P36894	p.Ser19Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86876073T>G	NCI-TCGA
BMPR1A	P36894	p.Arg20Cys	RCV000580767	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876076C>T	ClinVar
BMPR1A	P36894	p.Arg20Cys	rs1472397694	missense variant	-	NC_000010.11:g.86876076C>T	TOPMed
BMPR1A	P36894	p.Arg20His	rs759014147	missense variant	-	NC_000010.11:g.86876077G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg20Cys	RCV000553756	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876076C>T	ClinVar
BMPR1A	P36894	p.Arg20His	RCV000213165	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876077G>A	ClinVar
BMPR1A	P36894	p.Arg20Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86876077G>T	NCI-TCGA
BMPR1A	P36894	p.Gln22Pro	rs747437716	missense variant	-	NC_000010.11:g.86876083A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln22Ter	rs1554886821	stop gained	-	NC_000010.11:g.86876082C>T	-
BMPR1A	P36894	p.Gln22His	rs786204152	missense variant	-	NC_000010.11:g.86876084A>C	-
BMPR1A	P36894	p.Gln22His	RCV000168143	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876084A>C	ClinVar
BMPR1A	P36894	p.Gln22Ter	rs1554886821	stop gained	-	NC_000010.11:g.86876082C>T	NCI-TCGA
BMPR1A	P36894	p.Gln22His	RCV000758776	missense variant	-	NC_000010.11:g.86876084A>C	ClinVar
BMPR1A	P36894	p.Gln22Ter	RCV000521828	nonsense	-	NC_000010.11:g.86876082C>T	ClinVar
BMPR1A	P36894	p.Gln22Pro	RCV000704484	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876083A>C	ClinVar
BMPR1A	P36894	p.Gln22Pro	RCV000480437	missense variant	-	NC_000010.11:g.86876083A>C	ClinVar
BMPR1A	P36894	p.Gly23Arg	rs1131691171	missense variant	-	NC_000010.11:g.86876085G>A	-
BMPR1A	P36894	p.Gly23Arg	RCV000494227	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876085G>A	ClinVar
BMPR1A	P36894	p.Gly23Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86890062G>A	NCI-TCGA
BMPR1A	P36894	p.Gln24Arg	rs1163365235	missense variant	-	NC_000010.11:g.86890065A>G	gnomAD
BMPR1A	P36894	p.Asn25Ser	RCV000487317	missense variant	-	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Asn25Ser	rs1060503410	missense variant	-	NC_000010.11:g.86890068A>G	-
BMPR1A	P36894	p.Asn25Ser	RCV000566090	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Asn25Ser	RCV000463279	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Leu26Pro	rs200307579	missense variant	-	NC_000010.11:g.86890071T>C	1000Genomes
BMPR1A	P36894	p.Asp27Tyr	rs1430886611	missense variant	-	NC_000010.11:g.86890073G>T	gnomAD
BMPR1A	P36894	p.Ser28Asn	RCV000196492	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Ser28Asn	RCV000568404	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Ser28Asn	rs371904636	missense variant	-	NC_000010.11:g.86890077G>A	ESP,TOPMed,gnomAD
BMPR1A	P36894	p.Ser28Gly	rs1170582171	missense variant	-	NC_000010.11:g.86890076A>G	gnomAD
BMPR1A	P36894	p.Ser28Asn	RCV000483899	missense variant	-	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Leu30Arg	RCV000580173	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890083T>G	ClinVar
BMPR1A	P36894	p.Leu30Arg	rs1194403044	missense variant	-	NC_000010.11:g.86890083T>G	TOPMed
BMPR1A	P36894	p.His31Gln	rs1461705514	missense variant	-	NC_000010.11:g.86890087T>A	gnomAD
BMPR1A	P36894	p.Gly32Arg	RCV000522769	missense variant	-	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Gly32Arg	rs755462552	missense variant	-	NC_000010.11:g.86890088G>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly32Arg	RCV000572168	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Gly32Arg	RCV000461457	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Thr33Ala	rs748515167	missense variant	-	NC_000010.11:g.86890091A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr33Ser	rs142454490	missense variant	-	NC_000010.11:g.86890092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr33Ser	RCV000569418	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890092C>G	ClinVar
BMPR1A	P36894	p.Thr33Ala	RCV000565843	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890091A>G	ClinVar
BMPR1A	P36894	p.Thr33Ala	RCV000552227	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890091A>G	ClinVar
BMPR1A	P36894	p.Gly34Ala	rs730881430	missense variant	-	NC_000010.11:g.86890095G>C	-
BMPR1A	P36894	p.Gly34Ala	RCV000213466	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890095G>C	ClinVar
BMPR1A	P36894	p.Gly34Ala	RCV000159834	missense variant	-	NC_000010.11:g.86890095G>C	ClinVar
BMPR1A	P36894	p.Met35Ile	RCV000772959	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890099G>T	ClinVar
BMPR1A	P36894	p.Met35Val	rs1043850286	missense variant	-	NC_000010.11:g.86890097A>G	TOPMed
BMPR1A	P36894	p.Lys36Thr	RCV000776991	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890101A>C	ClinVar
BMPR1A	P36894	p.Asp38Glu	RCV000573226	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890108C>G	ClinVar
BMPR1A	P36894	p.Asp38Glu	rs1021443408	missense variant	-	NC_000010.11:g.86890108C>G	TOPMed,gnomAD
BMPR1A	P36894	p.Asp38His	rs1554888103	missense variant	-	NC_000010.11:g.86890106G>C	-
BMPR1A	P36894	p.Asp38Glu	RCV000822318	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890108C>G	ClinVar
BMPR1A	P36894	p.Asp38His	RCV000580814	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890106G>C	ClinVar
BMPR1A	P36894	p.Ser39Tyr	rs876658859	missense variant	-	NC_000010.11:g.86890110C>A	-
BMPR1A	P36894	p.Ser39Ter	RCV000144578	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890109_86890110insA	ClinVar
BMPR1A	P36894	p.Ser39Phe	rs876658859	missense variant	-	NC_000010.11:g.86890110C>T	-
BMPR1A	P36894	p.Ser39Phe	RCV000808348	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890110C>T	ClinVar
BMPR1A	P36894	p.Ser39Phe	RCV000223454	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>T	ClinVar
BMPR1A	P36894	p.Ser39Tyr	RCV000580363	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>A	ClinVar
BMPR1A	P36894	p.Asp40Gly	RCV000635436	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>G	ClinVar
BMPR1A	P36894	p.Asp40Asn	rs587781556	missense variant	-	NC_000010.11:g.86890112G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp40Ala	rs1060503403	missense variant	-	NC_000010.11:g.86890113A>C	TOPMed
BMPR1A	P36894	p.Asp40Asn	RCV000464702	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Asn	RCV000129572	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Asn	RCV000521982	missense variant	-	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Gly	rs1060503403	missense variant	-	NC_000010.11:g.86890113A>G	TOPMed
BMPR1A	P36894	p.Asp40Ala	RCV000561127	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890113A>C	ClinVar
BMPR1A	P36894	p.Asp40Ala	RCV000463813	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>C	ClinVar
BMPR1A	P36894	p.Gln41Arg	rs1363945274	missense variant	-	NC_000010.11:g.86890116A>G	TOPMed
BMPR1A	P36894	p.Lys42Glu	rs786203156	missense variant	-	NC_000010.11:g.86890118A>G	-
BMPR1A	P36894	p.Lys42Glu	RCV000166341	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890118A>G	ClinVar
BMPR1A	P36894	p.Lys42Glu	RCV000635485	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890118A>G	ClinVar
BMPR1A	P36894	p.Ser44ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.86890117_86890118insA	NCI-TCGA
BMPR1A	P36894	p.Glu45Gly	RCV000697948	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890128A>G	ClinVar
BMPR1A	P36894	p.Glu45Ter	RCV000705111	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127_86890128del	ClinVar
BMPR1A	P36894	p.Glu45Lys	rs1554888112	missense variant	-	NC_000010.11:g.86890127G>A	-
BMPR1A	P36894	p.Glu45Lys	RCV000536243	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127G>A	ClinVar
BMPR1A	P36894	p.Gly47Glu	RCV000231777	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890134G>A	ClinVar
BMPR1A	P36894	p.Gly47Val	rs368595543	missense variant	-	NC_000010.11:g.86890134G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly47Ter	RCV000687804	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890133G>T	ClinVar
BMPR1A	P36894	p.Gly47Glu	RCV000166542	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890134G>A	ClinVar
BMPR1A	P36894	p.Gly47Glu	rs368595543	missense variant	-	NC_000010.11:g.86890134G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly47Val	RCV000478286	missense variant	-	NC_000010.11:g.86890134G>T	ClinVar
BMPR1A	P36894	p.Val48Ile	rs775188308	missense variant	-	NC_000010.11:g.86890136G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr49Ter	RCV000478294	frameshift	-	NC_000010.11:g.86890137dup	ClinVar
BMPR1A	P36894	p.Ala51Thr	RCV000566608	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890145G>A	ClinVar
BMPR1A	P36894	p.Ala51Thr	RCV000824159	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890145G>A	ClinVar
BMPR1A	P36894	p.Ala51Thr	rs1554888117	missense variant	-	NC_000010.11:g.86890145G>A	-
BMPR1A	P36894	p.Glu53Gly	RCV000572940	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890152A>G	ClinVar
BMPR1A	P36894	p.Glu53Gly	rs1554888120	missense variant	-	NC_000010.11:g.86890152A>G	-
BMPR1A	P36894	p.Glu53Lys	rs1554888119	missense variant	-	NC_000010.11:g.86890151G>A	-
BMPR1A	P36894	p.Glu53Lys	RCV000580074	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890151G>A	ClinVar
BMPR1A	P36894	p.Asp54Val	rs1554888124	missense variant	-	NC_000010.11:g.86890155A>T	-
BMPR1A	P36894	p.Asp54Val	RCV000635483	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890155A>T	ClinVar
BMPR1A	P36894	p.Asp54Ter	RCV000492863	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890154del	ClinVar
BMPR1A	P36894	p.Asp54His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86890154G>C	NCI-TCGA
BMPR1A	P36894	p.Asp54Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86890154G>A	NCI-TCGA
BMPR1A	P36894	p.Leu56Trp	rs1554888125	missense variant	-	NC_000010.11:g.86890161T>G	-
BMPR1A	P36894	p.Leu56Trp	RCV000635418	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890161T>G	ClinVar
BMPR1A	P36894	p.Pro57Arg	RCV000494075	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890164C>G	ClinVar
BMPR1A	P36894	p.Pro57Arg	rs1057517610	missense variant	-	NC_000010.11:g.86890164C>G	gnomAD
BMPR1A	P36894	p.Phe58Tyr	COSM20748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86890167T>A	NCI-TCGA Cosmic
BMPR1A	P36894	p.Phe58Ter	RCV000546241	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170del	ClinVar
BMPR1A	P36894	p.Phe58Ter	RCV000162393	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890170del	ClinVar
BMPR1A	P36894	p.Phe58Tyr	VAR_041398	Missense	-	-	UniProt
BMPR1A	P36894	p.Leu59Ter	COSM1967760	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.86890165T>-	NCI-TCGA Cosmic
BMPR1A	P36894	p.Leu59Ter	RCV000755041	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170T>A	ClinVar
BMPR1A	P36894	p.Cys61Tyr	COSM4920745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86890176G>A	NCI-TCGA Cosmic
BMPR1A	P36894	p.Tyr62Cys	RCV000477054	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890179A>G	ClinVar
BMPR1A	P36894	p.Tyr62Cys	rs1060503402	missense variant	-	NC_000010.11:g.86890179A>G	-
BMPR1A	P36894	p.Tyr62Cys	RCV000572912	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890179A>G	ClinVar
BMPR1A	P36894	p.Tyr62Asp	VAR_022828	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
BMPR1A	P36894	p.Cys63Ter	RCV000777502	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890183C>A	ClinVar
BMPR1A	P36894	p.Ser64Thr	rs201749804	missense variant	-	NC_000010.11:g.86890184T>A	1000Genomes
BMPR1A	P36894	p.Ser64Leu	rs760515128	missense variant	-	NC_000010.11:g.86890185C>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser64Leu	RCV000235281	missense variant	-	NC_000010.11:g.86890185C>T	ClinVar
BMPR1A	P36894	p.Ser64Leu	RCV000570508	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890185C>T	ClinVar
BMPR1A	P36894	p.Asp69Tyr	RCV000635479	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890199G>T	ClinVar
BMPR1A	P36894	p.Asp69Gly	RCV000570711	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890200A>G	ClinVar
BMPR1A	P36894	p.Asp69Ter	RCV000570399	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890193_86890197dup	ClinVar
BMPR1A	P36894	p.Asp69Tyr	rs1177143902	missense variant	-	NC_000010.11:g.86890199G>T	gnomAD
BMPR1A	P36894	p.Asp69Gly	rs1554888137	missense variant	-	NC_000010.11:g.86890200A>G	-
BMPR1A	P36894	p.Asp69His	rs1177143902	missense variant	-	NC_000010.11:g.86890199G>C	gnomAD
BMPR1A	P36894	p.Asp70Val	RCV000465318	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890203A>T	ClinVar
BMPR1A	P36894	p.Asp70Val	rs1060503394	missense variant	-	NC_000010.11:g.86890203A>T	-
BMPR1A	P36894	p.Asp70Val	RCV000759481	missense variant	-	NC_000010.11:g.86890203A>T	ClinVar
BMPR1A	P36894	p.Ala71Ter	RCV000460119	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890207_86890222del	ClinVar
BMPR1A	P36894	p.Ile72Val	rs1064795729	missense variant	-	NC_000010.11:g.86890208A>G	-
BMPR1A	P36894	p.Ile72Val	RCV000484198	missense variant	-	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Ile72Val	RCV000776272	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Ile72Val	RCV000530720	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Asn73Ter	RCV000163765	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890210dup	ClinVar
BMPR1A	P36894	p.Asn74Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86890216C>G	NCI-TCGA
BMPR1A	P36894	p.Thr75Ala	RCV000572222	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890217A>G	ClinVar
BMPR1A	P36894	p.Thr75Ala	rs1554888142	missense variant	-	NC_000010.11:g.86890217A>G	-
BMPR1A	P36894	p.Cys76Tyr	rs786201792	missense variant	-	NC_000010.11:g.86890221G>A	-
BMPR1A	P36894	p.Cys76Tyr	RCV000164261	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890221G>A	ClinVar
BMPR1A	P36894	p.Ile77Val	rs878854666	missense variant	-	NC_000010.11:g.86890223A>G	-
BMPR1A	P36894	p.Ile77LysPheSerTerUnkUnk	COSM292547	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.86890224T>-	NCI-TCGA Cosmic
BMPR1A	P36894	p.Ile77Val	RCV000226374	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890223A>G	ClinVar
BMPR1A	P36894	p.Thr78Ile	RCV000478119	missense variant	-	NC_000010.11:g.86892129C>T	ClinVar
BMPR1A	P36894	p.Thr78Ile	RCV000794170	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892129C>T	ClinVar
BMPR1A	P36894	p.Thr78Ser	rs1064793490	missense variant	-	NC_000010.11:g.86892129C>G	gnomAD
BMPR1A	P36894	p.Thr78Ile	rs1064793490	missense variant	-	NC_000010.11:g.86892129C>T	gnomAD
BMPR1A	P36894	p.His81Arg	RCV000478543	missense variant	-	NC_000010.11:g.86892138A>G	ClinVar
BMPR1A	P36894	p.His81Leu	rs1064793333	missense variant	-	NC_000010.11:g.86892138A>T	TOPMed
BMPR1A	P36894	p.His81Tyr	rs953797046	missense variant	-	NC_000010.11:g.86892137C>T	TOPMed,gnomAD
BMPR1A	P36894	p.His81Arg	rs1064793333	missense variant	-	NC_000010.11:g.86892138A>G	TOPMed
BMPR1A	P36894	p.His81Tyr	RCV000560576	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892137C>T	ClinVar
BMPR1A	P36894	p.His81Arg	RCV000580728	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>G	ClinVar
BMPR1A	P36894	p.His81Leu	RCV000694497	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892138A>T	ClinVar
BMPR1A	P36894	p.His81Tyr	RCV000561451	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892137C>T	ClinVar
BMPR1A	P36894	p.His81Leu	RCV000567266	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>T	ClinVar
BMPR1A	P36894	p.Cys82Gly	RCV000456263	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892140T>G	ClinVar
BMPR1A	P36894	p.Cys82Phe	rs1554888310	missense variant	-	NC_000010.11:g.86892141G>T	-
BMPR1A	P36894	p.Cys82Ter	rs759647230	stop gained	-	NC_000010.11:g.86892142C>A	ExAC,gnomAD
BMPR1A	P36894	p.Cys82Gly	rs1060503406	missense variant	-	NC_000010.11:g.86892140T>G	-
BMPR1A	P36894	p.Cys82Phe	RCV000574493	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892141G>T	ClinVar
BMPR1A	P36894	p.Cys82Ter	RCV000214108	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892142C>A	ClinVar
BMPR1A	P36894	p.Cys82Tyr	VAR_022829	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
BMPR1A	P36894	p.Phe83Ter	RCV000168250	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892143_86892147del	ClinVar
BMPR1A	P36894	p.Ala84Thr	rs1456980302	missense variant	-	NC_000010.11:g.86892146G>A	TOPMed
BMPR1A	P36894	p.Ala84Thr	RCV000773974	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892146G>A	ClinVar
BMPR1A	P36894	p.Ala84Thr	RCV000801612	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892146G>A	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000487158	missense variant	-	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000130327	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000206721	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	rs374739820	missense variant	-	NC_000010.11:g.86892149A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile86Thr	rs876659498	missense variant	-	NC_000010.11:g.86892153T>C	TOPMed
BMPR1A	P36894	p.Ile86Val	rs1554888312	missense variant	-	NC_000010.11:g.86892152A>G	-
BMPR1A	P36894	p.Ile86Val	RCV000579713	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892152A>G	ClinVar
BMPR1A	P36894	p.Ile86Val	RCV000819731	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892152A>G	ClinVar
BMPR1A	P36894	p.Ile86Thr	RCV000221898	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892153T>C	ClinVar
BMPR1A	P36894	p.Glu88Ter	rs730881431	stop gained	-	NC_000010.11:g.86892158G>T	-
BMPR1A	P36894	p.Glu88Ter	RCV000493126	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892158G>T	ClinVar
BMPR1A	P36894	p.Glu88Ter	RCV000159835	nonsense	-	NC_000010.11:g.86892158G>T	ClinVar
BMPR1A	P36894	p.Asp89Glu	COSM1349410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86892163T>A	NCI-TCGA Cosmic
BMPR1A	P36894	p.Gln91Ter	RCV000573228	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892167C>T	ClinVar
BMPR1A	P36894	p.Gln91Lys	RCV000229144	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892167C>A	ClinVar
BMPR1A	P36894	p.Gly92Ter	RCV000583582	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892171del	ClinVar
BMPR1A	P36894	p.Thr95Ala	RCV000759482	missense variant	-	NC_000010.11:g.86892179A>G	ClinVar
BMPR1A	P36894	p.Thr95Ala	RCV000804756	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892179A>G	ClinVar
BMPR1A	P36894	p.Leu96Val	rs1554888320	missense variant	-	NC_000010.11:g.86892182T>G	-
BMPR1A	P36894	p.Leu96Val	RCV000566080	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182T>G	ClinVar
BMPR1A	P36894	p.Ala97Ter	RCV000210116	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182_86892185dup	ClinVar
BMPR1A	P36894	p.Ser98Ala	RCV000776966	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892188T>G	ClinVar
BMPR1A	P36894	p.Ser98Ala	RCV000700875	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892188T>G	ClinVar
BMPR1A	P36894	p.Ser98Leu	rs756541429	missense variant	-	NC_000010.11:g.86892189C>T	ExAC,gnomAD
BMPR1A	P36894	p.Cys100Gly	rs1554888323	missense variant	-	NC_000010.11:g.86892194T>G	-
BMPR1A	P36894	p.Cys100Gly	RCV000562825	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892194T>G	ClinVar
BMPR1A	P36894	p.Tyr103Ter	rs876658891	stop gained	-	NC_000010.11:g.86892205T>G	-
BMPR1A	P36894	p.Tyr103Ter	RCV000218016	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892205T>G	ClinVar
BMPR1A	P36894	p.Glu104Lys	COSM115934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86892206G>A	NCI-TCGA Cosmic
BMPR1A	P36894	p.Gly105Val	COSM6130295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86892210G>T	NCI-TCGA Cosmic
BMPR1A	P36894	p.Phe108Leu	rs1554888328	missense variant	-	NC_000010.11:g.86892218T>C	-
BMPR1A	P36894	p.Phe108Leu	RCV000635475	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892218T>C	ClinVar
BMPR1A	P36894	p.Gln109Ter	RCV000573819	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892221del	ClinVar
BMPR1A	P36894	p.Gln109SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.86892216_86892217insT	NCI-TCGA
BMPR1A	P36894	p.Lys111Arg	RCV000477480	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892228A>G	ClinVar
BMPR1A	P36894	p.Lys111Arg	rs756944246	missense variant	-	NC_000010.11:g.86892228A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ser113Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86899798C>A	NCI-TCGA
BMPR1A	P36894	p.Pro114Leu	rs757608699	missense variant	-	NC_000010.11:g.86899801C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro114Ser	rs1554888960	missense variant	-	NC_000010.11:g.86899800C>T	-
BMPR1A	P36894	p.Pro114Ser	RCV000635442	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899800C>T	ClinVar
BMPR1A	P36894	p.Ala116Thr	rs765530870	missense variant	-	NC_000010.11:g.86899806G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ala116Val	rs750097648	missense variant	-	NC_000010.11:g.86899807C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala116Val	RCV000221176	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899807C>T	ClinVar
BMPR1A	P36894	p.Gln117Arg	rs1360094214	missense variant	-	NC_000010.11:g.86899810A>G	TOPMed
BMPR1A	P36894	p.Gln117Arg	RCV000570895	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899810A>G	ClinVar
BMPR1A	P36894	p.Leu118Val	RCV000131465	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899812C>G	ClinVar
BMPR1A	P36894	p.Leu118Val	rs587782418	missense variant	-	NC_000010.11:g.86899812C>G	-
BMPR1A	P36894	p.Arg119Cys	RCV000805939	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899815C>T	ClinVar
BMPR1A	P36894	p.Arg119Cys	RCV000757030	missense variant	-	NC_000010.11:g.86899815C>T	ClinVar
BMPR1A	P36894	p.Arg119His	RCV000692600	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899816G>A	ClinVar
BMPR1A	P36894	p.Arg119His	RCV000579641	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899816G>A	ClinVar
BMPR1A	P36894	p.Arg119His	rs1554888965	missense variant	-	NC_000010.11:g.86899816G>A	-
BMPR1A	P36894	p.Arg120Trp	rs779661827	missense variant	-	NC_000010.11:g.86899818C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg120Gln	rs1060503401	missense variant	-	NC_000010.11:g.86899819G>A	-
BMPR1A	P36894	p.Arg120Gln	RCV000482494	missense variant	-	NC_000010.11:g.86899819G>A	ClinVar
BMPR1A	P36894	p.Arg120Gln	RCV000467161	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899819G>A	ClinVar
BMPR1A	P36894	p.Thr121Ter	RCV000486207	frameshift	-	NC_000010.11:g.86899820del	ClinVar
BMPR1A	P36894	p.Thr121Ile	RCV000580329	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899822C>T	ClinVar
BMPR1A	P36894	p.Thr121Ile	rs1554888969	missense variant	-	NC_000010.11:g.86899822C>T	-
BMPR1A	P36894	p.Thr121Ter	RCV000493948	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899820del	ClinVar
BMPR1A	P36894	p.Ile122Val	rs1310807915	missense variant	-	NC_000010.11:g.86899824A>G	gnomAD
BMPR1A	P36894	p.Ile122Thr	rs1554888971	missense variant	-	NC_000010.11:g.86899825T>C	-
BMPR1A	P36894	p.Ile122Thr	RCV000548319	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899825T>C	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000635455	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899826_86899844del	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000494501	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899827del	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000115828	frameshift	-	NC_000010.11:g.86899829del	ClinVar
BMPR1A	P36894	p.Cys124Tyr	rs587782388	missense variant	-	NC_000010.11:g.86899831G>A	-
BMPR1A	P36894	p.Cys124Arg	rs199476087	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt,dbSNP
BMPR1A	P36894	p.Cys124Arg	VAR_015533	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt
BMPR1A	P36894	p.Cys124Tyr	RCV000131396	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899831G>A	ClinVar
BMPR1A	P36894	p.Cys124Arg	RCV000165949	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899830T>C	ClinVar
BMPR1A	P36894	p.Cys125Gly	RCV000493348	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899833T>G	ClinVar
BMPR1A	P36894	p.Cys125Gly	rs1131691180	missense variant	-	NC_000010.11:g.86899833T>G	-
BMPR1A	P36894	p.Cys125Ter	RCV000779036	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899834del	ClinVar
BMPR1A	P36894	p.Arg126Gly	rs781258592	missense variant	-	NC_000010.11:g.86899836C>G	ExAC,gnomAD
BMPR1A	P36894	p.Arg126Leu	RCV000236577	missense variant	-	NC_000010.11:g.86899837G>T	ClinVar
BMPR1A	P36894	p.Arg126Leu	RCV000206669	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>T	ClinVar
BMPR1A	P36894	p.Arg126Gly	RCV000197535	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899836C>G	ClinVar
BMPR1A	P36894	p.Arg126Trp	RCV000575950	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>T	ClinVar
BMPR1A	P36894	p.Arg126Gln	rs864622549	missense variant	-	NC_000010.11:g.86899837G>A	gnomAD
BMPR1A	P36894	p.Arg126Trp	rs781258592	missense variant	-	NC_000010.11:g.86899836C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg126Leu	rs864622549	missense variant	-	NC_000010.11:g.86899837G>T	gnomAD
BMPR1A	P36894	p.Arg126Pro	rs864622549	missense variant	-	NC_000010.11:g.86899837G>C	gnomAD
BMPR1A	P36894	p.Arg126Gln	RCV000691505	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>A	ClinVar
BMPR1A	P36894	p.Arg126Gln	RCV000584220	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899837G>A	ClinVar
BMPR1A	P36894	p.Arg126Pro	RCV000635481	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>C	ClinVar
BMPR1A	P36894	p.Arg126Gly	RCV000563616	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	RCV000479183	missense variant	-	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	RCV000166089	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	rs375165807	missense variant	-	NC_000010.11:g.86899843A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn128Ser	RCV000469945	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Cys130Arg	RCV000493560	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899848T>C	ClinVar
BMPR1A	P36894	p.Cys130Ser	RCV000200107	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899849G>C	ClinVar
BMPR1A	P36894	p.Cys130Arg	rs1131691168	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt,dbSNP
BMPR1A	P36894	p.Cys130Arg	VAR_022830	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt
BMPR1A	P36894	p.Cys130Arg	rs1131691168	missense variant	-	NC_000010.11:g.86899848T>C	-
BMPR1A	P36894	p.Cys130Ser	rs863224720	missense variant	-	NC_000010.11:g.86899849G>C	-
BMPR1A	P36894	p.Asn131Lys	RCV000213228	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>A	ClinVar
BMPR1A	P36894	p.Asn131Lys	rs786202136	missense variant	-	NC_000010.11:g.86899853C>G	-
BMPR1A	P36894	p.Asn131Lys	rs786202136	missense variant	-	NC_000010.11:g.86899853C>A	-
BMPR1A	P36894	p.Asn131Lys	RCV000164797	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>G	ClinVar
BMPR1A	P36894	p.Gln135Arg	rs1344373156	missense variant	-	NC_000010.11:g.86899864A>G	gnomAD
BMPR1A	P36894	p.Pro136Ter	RCV000214964	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899865dup	ClinVar
BMPR1A	P36894	p.Pro136Leu	rs1554888980	missense variant	-	NC_000010.11:g.86899867C>T	-
BMPR1A	P36894	p.Pro136Ter	RCV000473459	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899865dup	ClinVar
BMPR1A	P36894	p.Pro136Leu	RCV000635469	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899867C>T	ClinVar
BMPR1A	P36894	p.Thr137Ile	COSM4016401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86899870C>T	NCI-TCGA Cosmic
BMPR1A	P36894	p.Leu138Pro	rs767385418	missense variant	-	NC_000010.11:g.86899873T>C	ExAC,gnomAD
BMPR1A	P36894	p.Leu138Arg	rs767385418	missense variant	-	NC_000010.11:g.86899873T>G	ExAC,gnomAD
BMPR1A	P36894	p.Pro139Arg	RCV000583841	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899876C>G	ClinVar
BMPR1A	P36894	p.Pro139Arg	rs1554888987	missense variant	-	NC_000010.11:g.86899876C>G	-
BMPR1A	P36894	p.Pro139Ser	rs772163112	missense variant	-	NC_000010.11:g.86899875C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro139Ser	RCV000686458	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899875C>T	ClinVar
BMPR1A	P36894	p.Pro140Ter	RCV000635425	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899879del	ClinVar
BMPR1A	P36894	p.Pro140Ala	rs138478597	missense variant	-	NC_000010.11:g.86899878C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro140Leu	RCV000580587	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899879C>T	ClinVar
BMPR1A	P36894	p.Pro140Ser	rs138478597	missense variant	-	NC_000010.11:g.86899878C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro140Leu	rs1312138101	missense variant	-	NC_000010.11:g.86899879C>T	TOPMed
BMPR1A	P36894	p.Pro140Ser	RCV000581937	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Pro140Ser	RCV000526586	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Pro140Ala	RCV000473238	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>G	ClinVar
BMPR1A	P36894	p.Pro140Ser	RCV000506566	missense variant	-	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Pro140LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.86899875C>-	NCI-TCGA
BMPR1A	P36894	p.Val141Ile	rs1244692883	missense variant	-	NC_000010.11:g.86899881G>A	gnomAD
BMPR1A	P36894	p.Val141Ala	rs1442736321	missense variant	-	NC_000010.11:g.86899882T>C	gnomAD
BMPR1A	P36894	p.Val141Ter	RCV000164147	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899880del	ClinVar
BMPR1A	P36894	p.Val142Leu	RCV000689735	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899884G>C	ClinVar
BMPR1A	P36894	p.Ile143Leu	rs760739609	missense variant	-	NC_000010.11:g.86899887A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Leu	rs760739609	missense variant	-	NC_000010.11:g.86899887A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Val	RCV000574707	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>G	ClinVar
BMPR1A	P36894	p.Ile143Val	rs760739609	missense variant	-	NC_000010.11:g.86899887A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Leu	RCV000581072	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>C	ClinVar
BMPR1A	P36894	p.Ile143MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.86899882_86899883insTGTCA	NCI-TCGA
BMPR1A	P36894	p.Gly144Arg	RCV000215661	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899890G>C	ClinVar
BMPR1A	P36894	p.Gly144Arg	rs876658573	missense variant	-	NC_000010.11:g.86899890G>C	-
BMPR1A	P36894	p.Pro145Leu	RCV000773372	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900030C>T	ClinVar
BMPR1A	P36894	p.Phe146Ser	RCV000120254	missense variant	-	NC_000010.11:g.86900033T>C	ClinVar
BMPR1A	P36894	p.Phe146Val	rs1554889007	missense variant	-	NC_000010.11:g.86900032T>G	-
BMPR1A	P36894	p.Phe146Ser	rs587778112	missense variant	-	NC_000010.11:g.86900033T>C	ExAC,gnomAD
BMPR1A	P36894	p.Phe146Val	RCV000547539	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900032T>G	ClinVar
BMPR1A	P36894	p.Phe146Leu	RCV000687903	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900034T>G	ClinVar
BMPR1A	P36894	p.Phe147Ser	rs371243894	missense variant	-	NC_000010.11:g.86900036T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Phe147Ser	RCV000572583	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900036T>C	ClinVar
BMPR1A	P36894	p.Phe147Ser	RCV000701918	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900036T>C	ClinVar
BMPR1A	P36894	p.Gly149Val	rs773689557	missense variant	-	NC_000010.11:g.86900042G>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser150Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86900045G>A	NCI-TCGA
BMPR1A	P36894	p.Ile151Thr	rs1554889010	missense variant	-	NC_000010.11:g.86900048T>C	-
BMPR1A	P36894	p.Ile151Thr	RCV000583785	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900048T>C	ClinVar
BMPR1A	P36894	p.Arg152Gly	RCV000574904	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>G	ClinVar
BMPR1A	P36894	p.Arg152Gln	RCV000635472	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900051G>A	ClinVar
BMPR1A	P36894	p.Arg152Gln	rs567009904	missense variant	-	NC_000010.11:g.86900051G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg152Gly	rs1131691178	missense variant	-	NC_000010.11:g.86900050C>G	TOPMed
BMPR1A	P36894	p.Arg152Ter	rs1131691178	stop gained	-	NC_000010.11:g.86900050C>T	TOPMed
BMPR1A	P36894	p.Arg152Gln	RCV000564920	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900051G>A	ClinVar
BMPR1A	P36894	p.Arg152Ter	RCV000494036	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>T	ClinVar
BMPR1A	P36894	p.Arg152Gln	rs567009904	missense variant	-	NC_000010.11:g.86900051G>A	NCI-TCGA
BMPR1A	P36894	p.Trp153Ter	RCV000493870	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900054G>A	ClinVar
BMPR1A	P36894	p.Trp153Ter	rs1131691176	stop gained	-	NC_000010.11:g.86900054G>A	-
BMPR1A	P36894	p.Leu157Arg	rs751260747	missense variant	-	NC_000010.11:g.86900066T>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile158Leu	RCV000691044	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900068A>C	ClinVar
BMPR1A	P36894	p.Ser159Pro	rs767157505	missense variant	-	NC_000010.11:g.86900071T>C	ExAC,gnomAD
BMPR1A	P36894	p.Ser159Pro	RCV000580150	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900071T>C	ClinVar
BMPR1A	P36894	p.Ser159Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86900072C>A	NCI-TCGA
BMPR1A	P36894	p.Met160Val	rs145101532	missense variant	-	NC_000010.11:g.86900074A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met160Val	RCV000129348	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000656783	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000763676	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000205803	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000481297	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.86900075_86900076insTTCAGTGA	NCI-TCGA
BMPR1A	P36894	p.Ala161Ter	RCV000493050	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900077del	ClinVar
BMPR1A	P36894	p.Ala161Thr	rs1443649142	missense variant	-	NC_000010.11:g.86900077G>A	gnomAD
BMPR1A	P36894	p.Ile164Val	rs142965096	missense variant	-	NC_000010.11:g.86900086A>G	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Ile164Val	RCV000573874	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900086A>G	ClinVar
BMPR1A	P36894	p.Ile165Met	rs763934014	missense variant	-	NC_000010.11:g.86900091T>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile165Thr	rs1260484420	missense variant	-	NC_000010.11:g.86900090T>C	gnomAD
BMPR1A	P36894	p.Ala166Thr	RCV000635426	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900092G>A	ClinVar
BMPR1A	P36894	p.Ala166Thr	rs971636078	missense variant	-	NC_000010.11:g.86900092G>A	-
BMPR1A	P36894	p.Ala166Thr	RCV000772204	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900092G>A	ClinVar
BMPR1A	P36894	p.Met167Leu	RCV000761022	missense variant	Craniopharyngioma	NC_000010.11:g.86900095A>T	ClinVar
BMPR1A	P36894	p.Met167Val	RCV000493778	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>G	ClinVar
BMPR1A	P36894	p.Met167Val	rs200951235	missense variant	-	NC_000010.11:g.86900095A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met167Leu	rs200951235	missense variant	-	NC_000010.11:g.86900095A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met167Leu	RCV000166911	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>T	ClinVar
BMPR1A	P36894	p.Ile168Met	rs778615896	missense variant	-	NC_000010.11:g.86900100C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile168Met	RCV000165557	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900100C>G	ClinVar
BMPR1A	P36894	p.Ile169Phe	RCV000226965	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Ile169Phe	rs878854668	missense variant	-	NC_000010.11:g.86900101A>T	gnomAD
BMPR1A	P36894	p.Ile169Val	rs878854668	missense variant	-	NC_000010.11:g.86900101A>G	gnomAD
BMPR1A	P36894	p.Ile169Phe	RCV000565550	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Ile169Phe	RCV000236060	missense variant	-	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Phe170Pro	RCV000608762	insertion	-	NC_000010.11:g.86900102_86900103insTCC	ClinVar
BMPR1A	P36894	p.Phe170Cys	rs555873943	missense variant	-	NC_000010.11:g.86900105T>G	1000Genomes
BMPR1A	P36894	p.Ser171Pro	rs377733546	missense variant	-	NC_000010.11:g.86900107T>C	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Ser171Cys	rs781286980	missense variant	-	NC_000010.11:g.86900108C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ser171Phe	RCV000775831	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900108C>T	ClinVar
BMPR1A	P36894	p.Ser171ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.86900107T>-	NCI-TCGA
BMPR1A	P36894	p.Cys173Trp	rs863224721	missense variant	-	NC_000010.11:g.86900115C>G	-
BMPR1A	P36894	p.Cys173Trp	RCV000573423	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900115C>G	ClinVar
BMPR1A	P36894	p.Cys173Trp	RCV000196338	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900115C>G	ClinVar
BMPR1A	P36894	p.Cys175Tyr	RCV000635417	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>A	ClinVar
BMPR1A	P36894	p.Cys175Ser	RCV000688030	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>C	ClinVar
BMPR1A	P36894	p.Cys175Tyr	RCV000167415	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>A	ClinVar
BMPR1A	P36894	p.Cys175Ser	RCV000214413	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>C	ClinVar
BMPR1A	P36894	p.Cys175Ser	rs370091063	missense variant	-	NC_000010.11:g.86900120G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Cys175Tyr	rs370091063	missense variant	-	NC_000010.11:g.86900120G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr176Cys	RCV000635460	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900123A>G	ClinVar
BMPR1A	P36894	p.Tyr176Cys	rs1554889024	missense variant	-	NC_000010.11:g.86900123A>G	-
BMPR1A	P36894	p.Tyr176Ter	rs770387084	stop gained	-	NC_000010.11:g.86900124C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr176His	RCV000772992	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900122T>C	ClinVar
BMPR1A	P36894	p.Tyr179Cys	COSM920996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86912245A>G	NCI-TCGA Cosmic
BMPR1A	P36894	p.Lys181Arg	rs1446889676	missense variant	-	NC_000010.11:g.86912251A>G	TOPMed
BMPR1A	P36894	p.Ser182Asn	rs1341015567	missense variant	-	NC_000010.11:g.86912254G>A	gnomAD
BMPR1A	P36894	p.Ser184Leu	RCV000635438	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912260C>T	ClinVar
BMPR1A	P36894	p.Ser184Leu	rs1131691185	missense variant	-	NC_000010.11:g.86912260C>T	-
BMPR1A	P36894	p.Ser184Ter	rs1131691185	stop gained	-	NC_000010.11:g.86912260C>G	-
BMPR1A	P36894	p.Ser184Ter	RCV000494378	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912260C>G	ClinVar
BMPR1A	P36894	p.Ser185Cys	rs1554890203	missense variant	-	NC_000010.11:g.86912262A>T	-
BMPR1A	P36894	p.Ser185Cys	RCV000564854	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912262A>T	ClinVar
BMPR1A	P36894	p.Arg187Cys	RCV000458724	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912268C>T	ClinVar
BMPR1A	P36894	p.Arg187His	RCV000479869	missense variant	-	NC_000010.11:g.86912269G>A	ClinVar
BMPR1A	P36894	p.Arg187His	rs189059377	missense variant	-	NC_000010.11:g.86912269G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg187Cys	rs587782231	missense variant	-	NC_000010.11:g.86912268C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg187Cys	RCV000130928	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912268C>T	ClinVar
BMPR1A	P36894	p.Arg188Cys	rs879254272	missense variant	-	NC_000010.11:g.86912271C>T	gnomAD
BMPR1A	P36894	p.Arg188Cys	RCV000491978	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912271C>T	ClinVar
BMPR1A	P36894	p.Arg188His	rs749780872	missense variant	-	NC_000010.11:g.86912272G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg188His	RCV000206361	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912272G>A	ClinVar
BMPR1A	P36894	p.Arg188His	RCV000221059	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912272G>A	ClinVar
BMPR1A	P36894	p.Tyr189His	RCV000805843	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912274T>C	ClinVar
BMPR1A	P36894	p.Tyr189His	RCV000777557	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912274T>C	ClinVar
BMPR1A	P36894	p.Tyr189Ter	rs1554890213	stop gained	-	NC_000010.11:g.86912276C>A	-
BMPR1A	P36894	p.Tyr189Ter	RCV000692187	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912275dup	ClinVar
BMPR1A	P36894	p.Tyr189Ter	RCV000554511	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912276C>A	ClinVar
BMPR1A	P36894	p.Asn190Ser	rs574229174	missense variant	-	NC_000010.11:g.86912278A>G	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Asn190Ile	rs574229174	missense variant	-	NC_000010.11:g.86912278A>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Asn190Asp	rs771444196	missense variant	-	NC_000010.11:g.86912277A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn190Ser	RCV000167437	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912278A>G	ClinVar
BMPR1A	P36894	p.Asn190Ser	RCV000123225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912278A>G	ClinVar
BMPR1A	P36894	p.Arg191Cys	RCV000580053	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912280C>T	ClinVar
BMPR1A	P36894	p.Arg191Cys	rs1053423400	missense variant	-	NC_000010.11:g.86912280C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg191His	rs746231785	missense variant	-	NC_000010.11:g.86912281G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg191Cys	rs1053423400	missense variant	-	NC_000010.11:g.86912280C>T	NCI-TCGA Cosmic
BMPR1A	P36894	p.Arg191Cys	RCV000635416	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912280C>T	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000543581	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000573990	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000482512	missense variant	-	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Leu193Ter	RCV000532814	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912287dup	ClinVar
BMPR1A	P36894	p.Leu193Phe	rs1060503404	missense variant	-	NC_000010.11:g.86912288G>C	-
BMPR1A	P36894	p.Leu193Phe	RCV000457968	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912288G>C	ClinVar
BMPR1A	P36894	p.Gln195Leu	rs775295628	missense variant	-	NC_000010.11:g.86912293A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Lys	RCV000586948	missense variant	-	NC_000010.11:g.86912292C>A	ClinVar
BMPR1A	P36894	p.Gln195Arg	rs775295628	missense variant	-	NC_000010.11:g.86912293A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Lys	rs771910503	missense variant	-	NC_000010.11:g.86912292C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Lys	RCV000206242	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912292C>A	ClinVar
BMPR1A	P36894	p.Gln195Arg	RCV000575488	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912293A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000484852	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000473381	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	rs141608069	missense variant	-	NC_000010.11:g.86912296A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp196Val	COSM685123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86912296A>T	NCI-TCGA Cosmic
BMPR1A	P36894	p.Asp196Gly	RCV000766536	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000777241	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Glu197Ala	rs763548019	missense variant	-	NC_000010.11:g.86912299A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ala198Glu	rs776160961	missense variant	-	NC_000010.11:g.86912302C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala198Val	RCV000777614	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912302C>T	ClinVar
BMPR1A	P36894	p.Phe199Ile	rs1297422277	missense variant	-	NC_000010.11:g.86912304T>A	gnomAD
BMPR1A	P36894	p.Val202Ala	rs879254158	missense variant	-	NC_000010.11:g.86912314T>C	-
BMPR1A	P36894	p.Val202Ala	RCV000235959	missense variant	-	NC_000010.11:g.86912314T>C	ClinVar
BMPR1A	P36894	p.Val202Phe	rs878854670	missense variant	-	NC_000010.11:g.86912313G>T	-
BMPR1A	P36894	p.Val202Phe	RCV000227718	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912313G>T	ClinVar
BMPR1A	P36894	p.Gly203Glu	rs587782748	missense variant	-	NC_000010.11:g.86912317G>A	gnomAD
BMPR1A	P36894	p.Gly203Glu	rs587782748	missense variant	-	NC_000010.11:g.86912317G>A	NCI-TCGA
BMPR1A	P36894	p.Gly203Glu	RCV000132254	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912317G>A	ClinVar
BMPR1A	P36894	p.Gly203Ala	COSM920998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86912317G>C	NCI-TCGA Cosmic
BMPR1A	P36894	p.Leu206Val	RCV000479389	missense variant	-	NC_000010.11:g.86912325C>G	ClinVar
BMPR1A	P36894	p.Leu206Val	rs1064793512	missense variant	-	NC_000010.11:g.86912325C>G	-
BMPR1A	P36894	p.Lys207Arg	RCV000507885	missense variant	-	NC_000010.11:g.86912329A>G	ClinVar
BMPR1A	P36894	p.Lys207Arg	rs1554890228	missense variant	-	NC_000010.11:g.86912329A>G	-
BMPR1A	P36894	p.Asp208Tyr	COSM921000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86912331G>T	NCI-TCGA Cosmic
BMPR1A	P36894	p.Leu209Phe	rs1334589004	missense variant	-	NC_000010.11:g.86912334C>T	gnomAD
BMPR1A	P36894	p.Leu209Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86912334C>A	NCI-TCGA
BMPR1A	P36894	p.Ile210Thr	rs730881432	missense variant	-	NC_000010.11:g.86912338T>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile210Val	rs750274275	missense variant	-	NC_000010.11:g.86912337A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile210Thr	RCV000159836	missense variant	-	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000772717	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000796745	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Val	RCV000562215	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912337A>G	ClinVar
BMPR1A	P36894	p.Gln212Lys	RCV000635471	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln212Glu	rs876658138	missense variant	-	NC_000010.11:g.86912343C>G	TOPMed,gnomAD
BMPR1A	P36894	p.Gln212Lys	rs876658138	missense variant	-	NC_000010.11:g.86912343C>A	TOPMed,gnomAD
BMPR1A	P36894	p.Gln212Lys	RCV000217755	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln212Lys	RCV000480249	missense variant	-	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln214Lys	rs1305429176	missense variant	-	NC_000010.11:g.86912349C>A	gnomAD
BMPR1A	P36894	p.Gln214Lys	RCV000582831	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912349C>A	ClinVar
BMPR1A	P36894	p.Gln214Lys	RCV000691450	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912349C>A	ClinVar
BMPR1A	P36894	p.Ser215Asn	RCV000575085	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912353G>A	ClinVar
BMPR1A	P36894	p.Ser215Asn	rs1554890233	missense variant	-	NC_000010.11:g.86912353G>A	-
BMPR1A	P36894	p.Gly217Cys	rs766093107	missense variant	-	NC_000010.11:g.86912358G>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Thr	rs752893921	missense variant	-	NC_000010.11:g.86912362G>C	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Asn	rs752893921	missense variant	-	NC_000010.11:g.86912362G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Gly	RCV000700647	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912361A>G	ClinVar
BMPR1A	P36894	p.Gly219Glu	rs878854671	missense variant	-	NC_000010.11:g.86912365G>A	-
BMPR1A	P36894	p.Gly219Glu	RCV000230480	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912365G>A	ClinVar
BMPR1A	P36894	p.Gly221Glu	RCV000776724	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912371G>A	ClinVar
BMPR1A	P36894	p.Leu224Ile	rs756310331	missense variant	-	NC_000010.11:g.86912379T>A	ExAC,gnomAD
BMPR1A	P36894	p.Leu225Ter	RCV000693404	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912383del	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000123228	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Ile	RCV000777011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>A	ClinVar
BMPR1A	P36894	p.Val226Phe	rs587780110	missense variant	-	NC_000010.11:g.86917134G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val226Phe	RCV000561750	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000515164	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000656784	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000115829	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Arg228Gln	rs747371306	missense variant	-	NC_000010.11:g.86917141G>A	ExAC,gnomAD
BMPR1A	P36894	p.Arg228Ter	rs587782682	stop gained	-	NC_000010.11:g.86917140C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg228Ter	RCV000132109	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917140C>T	ClinVar
BMPR1A	P36894	p.Arg228Ter	RCV000475579	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917140C>T	ClinVar
BMPR1A	P36894	p.Thr229Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86917143A>T	NCI-TCGA
BMPR1A	P36894	p.Ile230Val	rs730881433	missense variant	-	NC_000010.11:g.86917146A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile230Val	RCV000159837	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
BMPR1A	P36894	p.Ile230Val	RCV000779845	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
BMPR1A	P36894	p.Ala231Thr	rs1161175030	missense variant	-	NC_000010.11:g.86917149G>A	gnomAD
BMPR1A	P36894	p.Lys232Arg	rs587781341	missense variant	-	NC_000010.11:g.86917153A>G	gnomAD
BMPR1A	P36894	p.Lys232Arg	RCV000129114	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917153A>G	ClinVar
BMPR1A	P36894	p.Lys232Glu	RCV000773688	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917152A>G	ClinVar
BMPR1A	P36894	p.Gln233Ter	rs1554890743	stop gained	-	NC_000010.11:g.86917155C>T	-
BMPR1A	P36894	p.Gln233Ter	RCV000522325	nonsense	-	NC_000010.11:g.86917155C>T	ClinVar
BMPR1A	P36894	p.Gln235Glu	RCV000635419	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917161C>G	ClinVar
BMPR1A	P36894	p.Gln235Glu	rs1554890745	missense variant	-	NC_000010.11:g.86917161C>G	-
BMPR1A	P36894	p.Met236Thr	rs1347027954	missense variant	-	NC_000010.11:g.86917165T>C	gnomAD
BMPR1A	P36894	p.Met236Val	rs1303164661	missense variant	-	NC_000010.11:g.86917164A>G	gnomAD
BMPR1A	P36894	p.Met236Thr	RCV000584676	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917165T>C	ClinVar
BMPR1A	P36894	p.Met236Ile	RCV000695522	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917166G>A	ClinVar
BMPR1A	P36894	p.Arg238Gln	RCV000129721	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917171G>A	ClinVar
BMPR1A	P36894	p.Arg238Gln	RCV000236672	missense variant	-	NC_000010.11:g.86917171G>A	ClinVar
BMPR1A	P36894	p.Arg238Gly	rs747728399	missense variant	-	NC_000010.11:g.86917170C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Gln	rs191742018	missense variant	-	NC_000010.11:g.86917171G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Trp	rs747728399	missense variant	-	NC_000010.11:g.86917170C>T	NCI-TCGA
BMPR1A	P36894	p.Arg238Gly	RCV000557396	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Arg238Trp	RCV000564877	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>T	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000520400	missense variant	-	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Arg238Trp	rs747728399	missense variant	-	NC_000010.11:g.86917170C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Trp	RCV000635447	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>T	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000581103	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Gln239Lys	RCV000583131	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917173C>A	ClinVar
BMPR1A	P36894	p.Gln239Ter	RCV000008713	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917173C>T	ClinVar
BMPR1A	P36894	p.Val240Ile	RCV000470969	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917176G>A	ClinVar
BMPR1A	P36894	p.Val240Ile	rs1060503405	missense variant	-	NC_000010.11:g.86917176G>A	gnomAD
BMPR1A	P36894	p.Gly241Asp	rs1554890758	missense variant	-	NC_000010.11:g.86917180G>A	-
BMPR1A	P36894	p.Gly241Asp	RCV000560943	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917180G>A	ClinVar
BMPR1A	P36894	p.Gly241Ser	rs1226033707	missense variant	-	NC_000010.11:g.86917179G>A	gnomAD
BMPR1A	P36894	p.Gly241Ser	RCV000566364	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917179G>A	ClinVar
BMPR1A	P36894	p.Lys242Arg	rs762926637	missense variant	-	NC_000010.11:g.86917183A>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys242Arg	RCV000580544	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917183A>G	ClinVar
BMPR1A	P36894	p.Arg244Ter	rs759363072	stop gained	-	NC_000010.11:g.86917188C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gly	rs759363072	missense variant	-	NC_000010.11:g.86917188C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gln	rs147971049	missense variant	-	NC_000010.11:g.86917189G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gln	RCV000472993	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189G>A	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000686857	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000850053	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Arg244Gln	RCV000567827	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917189G>A	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000481831	nonsense	-	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000231232	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Tyr245Asn	rs369012159	missense variant	-	NC_000010.11:g.86917191T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr245Ter	RCV000635449	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189dup	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000589200	missense variant	-	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Tyr245Ter	rs1131691182	stop gained	-	NC_000010.11:g.86917193T>G	-
BMPR1A	P36894	p.Tyr245Cys	COSM271128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86917192A>G	NCI-TCGA Cosmic
BMPR1A	P36894	p.Tyr245Ter	RCV000494258	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917193T>G	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000130665	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Gly246Arg	COSM685121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86917194G>C	NCI-TCGA Cosmic
BMPR1A	P36894	p.Met250Ile	RCV000758778	missense variant	-	NC_000010.11:g.86917208G>A	ClinVar
BMPR1A	P36894	p.Met250Leu	rs762087997	missense variant	-	NC_000010.11:g.86917206A>T	ExAC,gnomAD
BMPR1A	P36894	p.Met250Thr	RCV000586264	missense variant	-	NC_000010.11:g.86917207T>C	ClinVar
BMPR1A	P36894	p.Met250Thr	rs587780783	missense variant	-	NC_000010.11:g.86917207T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly251Asp	RCV000573680	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917210G>A	ClinVar
BMPR1A	P36894	p.Gly251Cys	RCV000545911	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Gly251Asp	rs1554890768	missense variant	-	NC_000010.11:g.86917210G>A	-
BMPR1A	P36894	p.Gly251Cys	rs750513716	missense variant	-	NC_000010.11:g.86917209G>T	ExAC,gnomAD
BMPR1A	P36894	p.Gly251Asp	rs1554890768	missense variant	-	NC_000010.11:g.86917210G>A	NCI-TCGA
BMPR1A	P36894	p.Gly251Cys	RCV000587600	missense variant	-	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Gly251Cys	RCV000569001	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Lys252Arg	RCV000635454	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917213A>G	ClinVar
BMPR1A	P36894	p.Lys252Arg	rs1554890769	missense variant	-	NC_000010.11:g.86917213A>G	-
BMPR1A	P36894	p.Trp253Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.86917216G>A	NCI-TCGA
BMPR1A	P36894	p.Arg254Cys	RCV000200056	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Cys	RCV000515265	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254His	rs766908700	missense variant	-	NC_000010.11:g.86917219G>A	NCI-TCGA
BMPR1A	P36894	p.Arg254Leu	RCV000218230	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>T	ClinVar
BMPR1A	P36894	p.Arg254Leu	rs766908700	missense variant	-	NC_000010.11:g.86917219G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Pro	rs766908700	missense variant	-	NC_000010.11:g.86917219G>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254His	rs766908700	missense variant	-	NC_000010.11:g.86917219G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Cys	rs587782578	missense variant	-	NC_000010.11:g.86917218C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Cys	RCV000484680	missense variant	-	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Pro	RCV000569876	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>C	ClinVar
BMPR1A	P36894	p.Arg254His	RCV000461599	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917219G>A	ClinVar
BMPR1A	P36894	p.Glu256Lys	rs755372473	missense variant	-	NC_000010.11:g.86917224G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu256Lys	rs755372473	missense variant	-	NC_000010.11:g.86917224G>A	NCI-TCGA
BMPR1A	P36894	p.Lys257Glu	rs1554890784	missense variant	-	NC_000010.11:g.86917227A>G	-
BMPR1A	P36894	p.Lys257Glu	RCV000575124	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917227A>G	ClinVar
BMPR1A	P36894	p.Lys257Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86917229A>T	NCI-TCGA
BMPR1A	P36894	p.Val258Ter	RCV000227192	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917229del	ClinVar
BMPR1A	P36894	p.Ala259Val	rs905457708	missense variant	-	NC_000010.11:g.86917234C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Ala259Val	RCV000576012	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917234C>T	ClinVar
BMPR1A	P36894	p.Ala259Val	RCV000587159	missense variant	-	NC_000010.11:g.86917234C>T	ClinVar
BMPR1A	P36894	p.Ala259Val	rs905457708	missense variant	-	NC_000010.11:g.86917234C>T	NCI-TCGA
BMPR1A	P36894	p.Val260Gly	rs755740570	missense variant	-	NC_000010.11:g.86917237T>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys261Glu	rs777305118	missense variant	-	NC_000010.11:g.86917239A>G	ExAC,gnomAD
BMPR1A	P36894	p.Val262Ala	rs770830310	missense variant	-	NC_000010.11:g.86917243T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Ala	RCV000466256	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Val262Ile	rs748790017	missense variant	-	NC_000010.11:g.86917242G>A	ExAC,TOPMed
BMPR1A	P36894	p.Val262Gly	rs770830310	missense variant	-	NC_000010.11:g.86917243T>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Glu	rs770830310	missense variant	-	NC_000010.11:g.86917243T>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Ala	RCV000679550	missense variant	-	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Val262Ala	RCV000573612	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Phe264Ser	rs775377247	missense variant	-	NC_000010.11:g.86917249T>C	ExAC,gnomAD
BMPR1A	P36894	p.Thr265Ile	RCV000483613	missense variant	-	NC_000010.11:g.86917252C>T	ClinVar
BMPR1A	P36894	p.Thr265Ile	rs1064793937	missense variant	-	NC_000010.11:g.86917252C>T	-
BMPR1A	P36894	p.Thr266Ser	RCV000567379	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917255C>G	ClinVar
BMPR1A	P36894	p.Thr266Ser	rs1554890797	missense variant	-	NC_000010.11:g.86917255C>G	-
BMPR1A	P36894	p.Thr266Ala	rs1273972467	missense variant	-	NC_000010.11:g.86917254A>G	gnomAD
BMPR1A	P36894	p.Glu267Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.86917257G>T	NCI-TCGA
BMPR1A	P36894	p.Glu268Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.86917260G>T	NCI-TCGA
BMPR1A	P36894	p.Trp271Ter	rs199476085	stop gained	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917270G>A	-
BMPR1A	P36894	p.Trp271Ter	RCV000008714	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917270G>A	ClinVar
BMPR1A	P36894	p.Arg273Gln	rs762178061	missense variant	-	NC_000010.11:g.86917276G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg273Ter	rs587782400	stop gained	-	NC_000010.11:g.86917275C>T	NCI-TCGA,NCI-TCGA Cosmic
BMPR1A	P36894	p.Arg273Ter	RCV000131433	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Arg273Ter	rs587782400	stop gained	-	NC_000010.11:g.86917275C>T	-
BMPR1A	P36894	p.Arg273Ter	RCV000229057	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Arg273Ter	RCV000482559	nonsense	-	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Glu276Ter	RCV000130286	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917284_86917285del	ClinVar
BMPR1A	P36894	p.Glu276Ter	RCV000705148	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917284_86917285del	ClinVar
BMPR1A	P36894	p.Ile277Val	RCV000460344	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917287A>G	ClinVar
BMPR1A	P36894	p.Ile277Val	rs1060503400	missense variant	-	NC_000010.11:g.86917287A>G	-
BMPR1A	P36894	p.Tyr278Ter	RCV000560723	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917292C>A	ClinVar
BMPR1A	P36894	p.Tyr278Ter	rs1230919713	stop gained	-	NC_000010.11:g.86917292C>A	gnomAD
BMPR1A	P36894	p.Tyr278Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86917291A>G	NCI-TCGA
BMPR1A	P36894	p.Gln279Pro	rs1469597503	missense variant	-	NC_000010.11:g.86917294A>C	gnomAD
BMPR1A	P36894	p.Thr280Ser	RCV000812306	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917297C>G	ClinVar
BMPR1A	P36894	p.Thr280Ser	rs1064793497	missense variant	-	NC_000010.11:g.86917297C>G	gnomAD
BMPR1A	P36894	p.Thr280Ser	RCV000485913	missense variant	-	NC_000010.11:g.86917297C>G	ClinVar
BMPR1A	P36894	p.Val281Met	rs141625907	missense variant	-	NC_000010.11:g.86917299G>A	ESP
BMPR1A	P36894	p.Val281Met	RCV000493216	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917299G>A	ClinVar
BMPR1A	P36894	p.Leu282Pro	rs1386615932	missense variant	-	NC_000010.11:g.86917303T>C	gnomAD
BMPR1A	P36894	p.Met283Ter	RCV000686579	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917305dup	ClinVar
BMPR1A	P36894	p.Met283Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86917306T>C	NCI-TCGA
BMPR1A	P36894	p.Arg284Cys	rs765530074	missense variant	-	NC_000010.11:g.86917308C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg284Gly	rs765530074	missense variant	-	NC_000010.11:g.86917308C>G	ExAC,gnomAD
BMPR1A	P36894	p.Arg284Cys	RCV000230699	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917308C>T	ClinVar
BMPR1A	P36894	p.Arg284Cys	RCV000771718	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917308C>T	ClinVar
BMPR1A	P36894	p.His285Asn	rs1162302623	missense variant	-	NC_000010.11:g.86917311C>A	gnomAD
BMPR1A	P36894	p.Glu286Lys	COSM4845907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86917314G>A	NCI-TCGA Cosmic
BMPR1A	P36894	p.Asn287Tyr	rs763135904	missense variant	-	NC_000010.11:g.86917317A>T	ExAC,gnomAD
BMPR1A	P36894	p.Asn287Ser	COSM4016403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86917318A>G	NCI-TCGA Cosmic
BMPR1A	P36894	p.Ile288Met	RCV000708675	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917322A>G	ClinVar
BMPR1A	P36894	p.Leu289Ter	RCV000635448	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917322dup	ClinVar
BMPR1A	P36894	p.Gly290Ala	rs876660596	missense variant	-	NC_000010.11:g.86919172G>C	-
BMPR1A	P36894	p.Gly290Ala	RCV000815608	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919172G>C	ClinVar
BMPR1A	P36894	p.Gly290Ala	RCV000213715	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919172G>C	ClinVar
BMPR1A	P36894	p.Ile292Val	rs746800007	missense variant	-	NC_000010.11:g.86919177A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile292Ter	RCV000567580	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919177dup	ClinVar
BMPR1A	P36894	p.Asp295GlySerTerArgUnk	rs876659988	stop gained	-	NC_000010.11:g.86919187delinsGTTCATAGCGG	-
BMPR1A	P36894	p.Asp295GlySerTer	RCV000222176	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919187delinsGTTCATAGCGG	ClinVar
BMPR1A	P36894	p.Ile296Val	RCV000527955	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919189A>G	ClinVar
BMPR1A	P36894	p.Ile296Val	rs1554891019	missense variant	-	NC_000010.11:g.86919189A>G	-
BMPR1A	P36894	p.Ile296Thr	rs1554891022	missense variant	-	NC_000010.11:g.86919190T>C	-
BMPR1A	P36894	p.Ile296Thr	RCV000635478	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919190T>C	ClinVar
BMPR1A	P36894	p.Gly298Ser	RCV000758780	missense variant	-	NC_000010.11:g.86919195G>A	ClinVar
BMPR1A	P36894	p.Thr299Ala	rs876660756	missense variant	-	NC_000010.11:g.86919198A>G	-
BMPR1A	P36894	p.Thr299Arg	RCV000581360	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919199C>G	ClinVar
BMPR1A	P36894	p.Thr299Arg	rs1219651963	missense variant	-	NC_000010.11:g.86919199C>G	TOPMed
BMPR1A	P36894	p.Thr299Lys	rs1219651963	missense variant	-	NC_000010.11:g.86919199C>A	TOPMed
BMPR1A	P36894	p.Thr299Ala	RCV000221198	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919198A>G	ClinVar
BMPR1A	P36894	p.Gly300Arg	rs763040797	missense variant	-	NC_000010.11:g.86919201G>C	ExAC,gnomAD
BMPR1A	P36894	p.Gly300Ser	rs763040797	missense variant	-	NC_000010.11:g.86919201G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ser301Thr	rs983870066	missense variant	-	NC_000010.11:g.86919204T>A	TOPMed
BMPR1A	P36894	p.Ser301Tyr	rs876660939	missense variant	-	NC_000010.11:g.86919205C>A	TOPMed,gnomAD
BMPR1A	P36894	p.Ser301Tyr	RCV000533725	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919205C>A	ClinVar
BMPR1A	P36894	p.Ser301Tyr	RCV000217554	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919205C>A	ClinVar
BMPR1A	P36894	p.Thr303Ala	RCV000796584	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919210A>G	ClinVar
BMPR1A	P36894	p.Thr303Ala	RCV000582620	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919210A>G	ClinVar
BMPR1A	P36894	p.Thr303Ala	rs1554891025	missense variant	-	NC_000010.11:g.86919210A>G	-
BMPR1A	P36894	p.Gln304Ter	rs1404557708	stop gained	-	NC_000010.11:g.86919213C>T	gnomAD
BMPR1A	P36894	p.Gln304Lys	RCV000548904	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>A	ClinVar
BMPR1A	P36894	p.Gln304Arg	rs730881434	missense variant	-	NC_000010.11:g.86919214A>G	ExAC,gnomAD
BMPR1A	P36894	p.Gln304Arg	RCV000159838	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Arg	RCV000411865	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Ter	RCV000635424	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>T	ClinVar
BMPR1A	P36894	p.Gln304Arg	RCV000766554	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Lys	rs1404557708	missense variant	-	NC_000010.11:g.86919213C>A	gnomAD
BMPR1A	P36894	p.Gln304His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86919215G>C	NCI-TCGA
BMPR1A	P36894	p.Leu305Arg	rs1453306253	missense variant	-	NC_000010.11:g.86919217T>G	gnomAD
BMPR1A	P36894	p.Tyr306Cys	RCV000464837	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220A>G	ClinVar
BMPR1A	P36894	p.Tyr306Cys	rs955604329	missense variant	-	NC_000010.11:g.86919220A>G	gnomAD
BMPR1A	P36894	p.Ile308Ter	RCV000459435	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220_86919223dup	ClinVar
BMPR1A	P36894	p.Thr309Ser	rs1276976514	missense variant	-	NC_000010.11:g.86919229C>G	TOPMed
BMPR1A	P36894	p.Thr309Ser	RCV000583398	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919229C>G	ClinVar
BMPR1A	P36894	p.His312Ter	RCV000466694	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919237del	ClinVar
BMPR1A	P36894	p.His312Tyr	rs1437385150	missense variant	-	NC_000010.11:g.86919237C>T	TOPMed
BMPR1A	P36894	p.Asn314Ser	RCV000758781	missense variant	-	NC_000010.11:g.86919244A>G	ClinVar
BMPR1A	P36894	p.Asn314Ser	RCV000694892	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919244A>G	ClinVar
BMPR1A	P36894	p.Gly315Arg	rs730881435	missense variant	-	NC_000010.11:g.86919246G>A	gnomAD
BMPR1A	P36894	p.Gly315Ter	rs730881435	stop gained	-	NC_000010.11:g.86919246G>T	gnomAD
BMPR1A	P36894	p.Gly315Arg	RCV000463009	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Gly315Arg	RCV000235117	missense variant	-	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Gly315Arg	RCV000159839	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Ser316Thr	RCV000635452	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919249T>A	ClinVar
BMPR1A	P36894	p.Ser316Thr	rs1554891039	missense variant	-	NC_000010.11:g.86919249T>A	-
BMPR1A	P36894	p.Tyr318Ser	rs587778111	missense variant	-	NC_000010.11:g.86919256A>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr318Cys	RCV000567105	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000656785	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Ser	RCV000462820	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>C	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000120250	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Ser	RCV000775810	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>C	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000410175	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Cys	rs587778111	missense variant	-	NC_000010.11:g.86919256A>G	ExAC,gnomAD
BMPR1A	P36894	p.Phe320Ter	RCV000527295	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919260dup	ClinVar
BMPR1A	P36894	p.Phe320Ter	RCV000563459	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919264del	ClinVar
BMPR1A	P36894	p.Lys322Ter	RCV000492964	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919267A>T	ClinVar
BMPR1A	P36894	p.Lys322Ter	rs1131691167	stop gained	-	NC_000010.11:g.86919267A>T	gnomAD
BMPR1A	P36894	p.Lys322Gln	rs1131691167	missense variant	-	NC_000010.11:g.86919267A>C	gnomAD
BMPR1A	P36894	p.Cys323Arg	RCV000570171	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>C	ClinVar
BMPR1A	P36894	p.Cys323Ser	rs876660750	missense variant	-	NC_000010.11:g.86919270T>A	-
BMPR1A	P36894	p.Cys323Tyr	rs187780646	missense variant	-	NC_000010.11:g.86919271G>A	1000Genomes,ExAC
BMPR1A	P36894	p.Cys323Arg	RCV000457915	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919270T>C	ClinVar
BMPR1A	P36894	p.Cys323Arg	rs876660750	missense variant	-	NC_000010.11:g.86919270T>C	-
BMPR1A	P36894	p.Cys323Ser	RCV000216595	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>A	ClinVar
BMPR1A	P36894	p.Thr325Ala	rs1554891047	missense variant	-	NC_000010.11:g.86919276A>G	-
BMPR1A	P36894	p.Thr325Ala	RCV000541894	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919276A>G	ClinVar
BMPR1A	P36894	p.Thr325Ala	RCV000777203	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919276A>G	ClinVar
BMPR1A	P36894	p.Leu326Val	RCV000582761	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919279C>G	ClinVar
BMPR1A	P36894	p.Leu326Val	rs1554891050	missense variant	-	NC_000010.11:g.86919279C>G	-
BMPR1A	P36894	p.Asp327Gly	rs764376409	missense variant	-	NC_000010.11:g.86919283A>G	ExAC,gnomAD
BMPR1A	P36894	p.Thr328Ser	rs1554891053	missense variant	-	NC_000010.11:g.86919286C>G	-
BMPR1A	P36894	p.Thr328Ser	RCV000526492	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919286C>G	ClinVar
BMPR1A	P36894	p.Arg329Lys	RCV000779840	missense variant	-	NC_000010.11:g.86919289G>A	ClinVar
BMPR1A	P36894	p.Arg329Thr	RCV000541085	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919289G>C	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000465582	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Thr	rs1554891054	missense variant	-	NC_000010.11:g.86919289G>C	-
BMPR1A	P36894	p.Arg329Ser	rs753521037	missense variant	-	NC_000010.11:g.86919290A>C	ExAC,gnomAD
BMPR1A	P36894	p.Arg329Ter	RCV000657424	frameshift	-	NC_000010.11:g.86919290_86919295delinsTGTA	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000588080	missense variant	-	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000561962	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86919289G>T	NCI-TCGA
BMPR1A	P36894	p.Ala330Thr	rs927151124	missense variant	-	NC_000010.11:g.86919291G>A	TOPMed
BMPR1A	P36894	p.Ala330Val	rs587782092	missense variant	-	NC_000010.11:g.86919292C>T	gnomAD
BMPR1A	P36894	p.Ala330Thr	RCV000456972	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919291G>A	ClinVar
BMPR1A	P36894	p.Ala330Val	RCV000130601	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919292C>T	ClinVar
BMPR1A	P36894	p.Leu331Val	rs1554891064	missense variant	-	NC_000010.11:g.86919294C>G	-
BMPR1A	P36894	p.Leu331Val	RCV000580998	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919294C>G	ClinVar
BMPR1A	P36894	p.Leu332Pro	rs1064793886	missense variant	-	NC_000010.11:g.86919298T>C	gnomAD
BMPR1A	P36894	p.Leu332Pro	RCV000584023	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919298T>C	ClinVar
BMPR1A	P36894	p.Leu332Pro	RCV000484515	missense variant	-	NC_000010.11:g.86919298T>C	ClinVar
BMPR1A	P36894	p.Lys333Asn	rs1480528360	missense variant	-	NC_000010.11:g.86919302A>T	TOPMed,gnomAD
BMPR1A	P36894	p.Leu334Ser	rs915929375	missense variant	-	NC_000010.11:g.86919304T>C	TOPMed
BMPR1A	P36894	p.Leu334Met	rs749873461	missense variant	-	NC_000010.11:g.86919303T>A	ExAC,gnomAD
BMPR1A	P36894	p.Tyr336His	rs876658840	missense variant	-	NC_000010.11:g.86919309T>C	-
BMPR1A	P36894	p.Tyr336His	RCV000216334	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919309T>C	ClinVar
BMPR1A	P36894	p.Ser337Ter	rs1554891075	stop gained	-	NC_000010.11:g.86919313C>A	-
BMPR1A	P36894	p.Ser337Leu	rs1554891075	missense variant	-	NC_000010.11:g.86919313C>T	-
BMPR1A	P36894	p.Ser337Ter	RCV000569696	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>A	ClinVar
BMPR1A	P36894	p.Ser337Leu	RCV000582821	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>T	ClinVar
BMPR1A	P36894	p.Ala338Val	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>T	TOPMed
BMPR1A	P36894	p.Ala338Asp	RCV000566713	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919316C>A	ClinVar
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>A	TOPMed
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>A	TOPMed
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt,dbSNP
BMPR1A	P36894	p.Ala338Asp	VAR_015534	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt
BMPR1A	P36894	p.Ala339Thr	rs758432395	missense variant	-	NC_000010.11:g.86919318G>A	ExAC,gnomAD
BMPR1A	P36894	p.Gly341Asp	RCV000703322	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919325G>A	ClinVar
BMPR1A	P36894	p.Gly341Ser	RCV000562882	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>A	ClinVar
BMPR1A	P36894	p.Gly341Cys	rs1554891077	missense variant	-	NC_000010.11:g.86919324G>T	-
BMPR1A	P36894	p.Gly341Cys	RCV000564091	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>T	ClinVar
BMPR1A	P36894	p.Gly341Ser	rs1554891077	missense variant	-	NC_000010.11:g.86919324G>A	-
BMPR1A	P36894	p.Gly341Arg	COSM1349414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86919324G>C	NCI-TCGA Cosmic
BMPR1A	P36894	p.His346Arg	RCV000131740	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919340A>G	ClinVar
BMPR1A	P36894	p.His346Arg	rs587782536	missense variant	-	NC_000010.11:g.86919340A>G	-
BMPR1A	P36894	p.Glu348Gln	rs1060503398	missense variant	-	NC_000010.11:g.86919345G>C	-
BMPR1A	P36894	p.Glu348Gln	RCV000472607	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919345G>C	ClinVar
BMPR1A	P36894	p.Glu348Asp	RCV000579475	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919347A>C	ClinVar
BMPR1A	P36894	p.Glu348Asp	rs781082609	missense variant	-	NC_000010.11:g.86919347A>T	ExAC,gnomAD
BMPR1A	P36894	p.Glu348Asp	rs781082609	missense variant	-	NC_000010.11:g.86919347A>C	ExAC,gnomAD
BMPR1A	P36894	p.Glu348Asp	RCV000548785	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919347A>T	ClinVar
BMPR1A	P36894	p.Ile349Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86919350T>G	NCI-TCGA
BMPR1A	P36894	p.Tyr350His	rs749571434	missense variant	-	NC_000010.11:g.86919351T>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr350His	RCV000820356	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Tyr350His	RCV000759474	missense variant	-	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Tyr350His	RCV000575787	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Gln353Arg	RCV000527621	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919361A>G	ClinVar
BMPR1A	P36894	p.Gln353Arg	RCV000580162	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361A>G	ClinVar
BMPR1A	P36894	p.Gln353Arg	rs1405441693	missense variant	-	NC_000010.11:g.86919361A>G	TOPMed
BMPR1A	P36894	p.Gly354Ter	RCV000493671	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361_86919362dup	ClinVar
BMPR1A	P36894	p.Gly354Ala	rs1406950391	missense variant	-	NC_000010.11:g.86919364G>C	gnomAD
BMPR1A	P36894	p.Gly354Ter	RCV000569032	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919364del	ClinVar
BMPR1A	P36894	p.Lys355Ter	RCV000776619	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919368del	ClinVar
BMPR1A	P36894	p.Pro356Ser	rs774555805	missense variant	-	NC_000010.11:g.86919369C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro356Ser	RCV000572363	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919369C>T	ClinVar
BMPR1A	P36894	p.Ala357Ser	rs201509164	missense variant	-	NC_000010.11:g.86919372G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala357Thr	rs201509164	missense variant	-	NC_000010.11:g.86919372G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala357Thr	RCV000478306	missense variant	-	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Ala357Thr	rs201509164	missense variant	-	NC_000010.11:g.86919372G>A	NCI-TCGA,NCI-TCGA Cosmic
BMPR1A	P36894	p.Ala357Thr	RCV000567914	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Ala357Thr	RCV000461013	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.His360Asp	COSM3415309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86919381C>G	NCI-TCGA Cosmic
BMPR1A	P36894	p.Arg361Ter	rs764466442	stop gained	-	NC_000010.11:g.86919384C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg361Ter	rs764466442	stop gained	-	NC_000010.11:g.86919384C>T	NCI-TCGA,NCI-TCGA Cosmic
BMPR1A	P36894	p.Arg361Gly	RCV000579633	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>G	ClinVar
BMPR1A	P36894	p.Arg361Gln	rs730881436	missense variant	-	NC_000010.11:g.86919385G>A	-
BMPR1A	P36894	p.Arg361Gly	rs764466442	missense variant	-	NC_000010.11:g.86919384C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg361Ter	RCV000461272	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919384C>T	ClinVar
BMPR1A	P36894	p.Arg361Ter	RCV000162430	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>T	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000772718	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000530820	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000159840	missense variant	-	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Asp362Asn	RCV000693269	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919387G>A	ClinVar
BMPR1A	P36894	p.Asp362Asn	RCV000772196	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919387G>A	ClinVar
BMPR1A	P36894	p.Lys366Asn	RCV000467828	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919401A>C	ClinVar
BMPR1A	P36894	p.Lys366Asn	rs1060503397	missense variant	-	NC_000010.11:g.86919401A>C	-
BMPR1A	P36894	p.Lys366Asn	RCV000759475	missense variant	-	NC_000010.11:g.86919401A>C	ClinVar
BMPR1A	P36894	p.Lys366Arg	RCV000773788	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919400A>G	ClinVar
BMPR1A	P36894	p.Asn367Ter	RCV000563858	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919404del	ClinVar
BMPR1A	P36894	p.Lys371Thr	rs1490421596	missense variant	-	NC_000010.11:g.86919415A>C	gnomAD
BMPR1A	P36894	p.Lys372Glu	rs1315674155	missense variant	-	NC_000010.11:g.86919417A>G	TOPMed
BMPR1A	P36894	p.Lys372Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86919418A>T	NCI-TCGA
BMPR1A	P36894	p.Asn373Ser	rs1281108621	missense variant	-	NC_000010.11:g.86919421A>G	TOPMed
BMPR1A	P36894	p.Cys376Ser	RCV000772243	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919429T>A	ClinVar
BMPR1A	P36894	p.Cys376Trp	RCV000493424	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919431C>G	ClinVar
BMPR1A	P36894	p.Cys376Trp	rs1131691177	missense variant	-	NC_000010.11:g.86919431C>G	-
BMPR1A	P36894	p.Cys376Tyr	rs199476088	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919430G>A	-
BMPR1A	P36894	p.Cys376Tyr	rs199476088	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt,dbSNP
BMPR1A	P36894	p.Cys376Tyr	VAR_015535	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt
BMPR1A	P36894	p.Cys376Tyr	RCV000008718	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	ClinVar
BMPR1A	P36894	p.Cys376Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86919429T>C	NCI-TCGA
BMPR1A	P36894	p.Leu381Val	RCV000206145	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919444C>G	ClinVar
BMPR1A	P36894	p.Leu381Val	rs864622566	missense variant	-	NC_000010.11:g.86919444C>G	-
BMPR1A	P36894	p.Leu381Val	RCV000478590	missense variant	-	NC_000010.11:g.86919444C>G	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000472543	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000759476	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	rs1060503396	missense variant	-	NC_000010.11:g.86919456G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Val385Ile	RCV000563011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000779842	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Ser389Arg	RCV000696953	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921520T>G	ClinVar
BMPR1A	P36894	p.Ser389Asn	rs879254049	missense variant	-	NC_000010.11:g.86919469G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Ser389Ile	rs879254049	missense variant	-	NC_000010.11:g.86919469G>T	TOPMed,gnomAD
BMPR1A	P36894	p.Ser389Asn	RCV000477534	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>A	ClinVar
BMPR1A	P36894	p.Ser389Asn	RCV000236250	missense variant	-	NC_000010.11:g.86919469G>A	ClinVar
BMPR1A	P36894	p.Ser389Ile	rs879254049	missense variant	-	NC_000010.11:g.86919469G>T	NCI-TCGA Cosmic
BMPR1A	P36894	p.Ser389Ile	RCV000541560	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>T	ClinVar
BMPR1A	P36894	p.Ser389Ile	RCV000565079	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919469G>T	ClinVar
BMPR1A	P36894	p.Asp390Asn	RCV000486499	missense variant	-	NC_000010.11:g.86921521G>A	ClinVar
BMPR1A	P36894	p.Asp390Asn	rs1064794827	missense variant	-	NC_000010.11:g.86921521G>A	-
BMPR1A	P36894	p.Thr391Ser	RCV000556248	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921524A>T	ClinVar
BMPR1A	P36894	p.Thr391Ser	rs1554891310	missense variant	-	NC_000010.11:g.86921524A>T	-
BMPR1A	P36894	p.Asn392Ser	rs1554891311	missense variant	-	NC_000010.11:g.86921528A>G	-
BMPR1A	P36894	p.Asn392Ser	RCV000583018	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921528A>G	ClinVar
BMPR1A	P36894	p.Asn392Ser	RCV000522509	missense variant	-	NC_000010.11:g.86921528A>G	ClinVar
BMPR1A	P36894	p.Val396Met	rs1161972977	missense variant	-	NC_000010.11:g.86921539G>A	gnomAD
BMPR1A	P36894	p.Pro397Leu	rs878854662	missense variant	-	NC_000010.11:g.86921543C>T	-
BMPR1A	P36894	p.Pro397Arg	RCV000780964	missense variant	-	NC_000010.11:g.86921543C>G	ClinVar
BMPR1A	P36894	p.Pro397Leu	RCV000228257	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921543C>T	ClinVar
BMPR1A	P36894	p.Asn399Asp	RCV000563262	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921548A>G	ClinVar
BMPR1A	P36894	p.Asn399Asp	rs1554891313	missense variant	-	NC_000010.11:g.86921548A>G	-
BMPR1A	P36894	p.Asn399Ser	rs1554891315	missense variant	-	NC_000010.11:g.86921549A>G	-
BMPR1A	P36894	p.Asn399Ser	RCV000560017	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921549A>G	ClinVar
BMPR1A	P36894	p.Thr400Asn	RCV000635453	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921552C>A	ClinVar
BMPR1A	P36894	p.Thr400Asn	rs1554891317	missense variant	-	NC_000010.11:g.86921552C>A	-
BMPR1A	P36894	p.Val402Gly	rs1298646773	missense variant	-	NC_000010.11:g.86921558T>G	gnomAD
BMPR1A	P36894	p.Val402Met	rs1462602717	missense variant	-	NC_000010.11:g.86921557G>A	gnomAD
BMPR1A	P36894	p.Lys405Arg	RCV000692348	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921567A>G	ClinVar
BMPR1A	P36894	p.Lys405Asn	RCV000409039	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Asn	RCV000590666	missense variant	-	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Arg	rs1064795593	missense variant	-	NC_000010.11:g.86921567A>G	-
BMPR1A	P36894	p.Lys405Asn	rs587781522	missense variant	-	NC_000010.11:g.86921568A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys405Asn	RCV000129512	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Arg	RCV000483970	missense variant	-	NC_000010.11:g.86921567A>G	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000233959	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000129084	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000679546	missense variant	-	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000635445	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406Leu	RCV000656727	missense variant	BMPR1A Skeletal Dysplasia Syndrome	NC_000010.11:g.86921570G>T	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000519920	missense variant	-	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406His	rs587780107	missense variant	-	NC_000010.11:g.86921570G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Arg406Leu	rs587780107	missense variant	-	NC_000010.11:g.86921570G>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg406Cys	rs587781332	missense variant	-	NC_000010.11:g.86921569C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg406His	RCV000561496	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Tyr407Cys	rs1554891322	missense variant	-	NC_000010.11:g.86921573A>G	-
BMPR1A	P36894	p.Tyr407Ter	RCV000779843	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921574C>G	ClinVar
BMPR1A	P36894	p.Tyr407Cys	RCV000568210	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921573A>G	ClinVar
BMPR1A	P36894	p.Ala409Thr	rs1554891324	missense variant	-	NC_000010.11:g.86921578G>A	-
BMPR1A	P36894	p.Ala409Thr	RCV000635421	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921578G>A	ClinVar
BMPR1A	P36894	p.Glu411Lys	rs786202611	missense variant	-	NC_000010.11:g.86921584G>A	-
BMPR1A	P36894	p.Glu411Lys	rs786202611	missense variant	-	NC_000010.11:g.86921584G>A	NCI-TCGA
BMPR1A	P36894	p.Glu411Lys	RCV000165505	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921584G>A	ClinVar
BMPR1A	P36894	p.Glu411Lys	RCV000463942	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921584G>A	ClinVar
BMPR1A	P36894	p.Val412Ala	rs576247658	missense variant	-	NC_000010.11:g.86921588T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val412Ala	RCV000589484	missense variant	-	NC_000010.11:g.86921588T>C	ClinVar
BMPR1A	P36894	p.Asp414Gly	rs1409093791	missense variant	-	NC_000010.11:g.86921594A>G	TOPMed
BMPR1A	P36894	p.Asp414Glu	rs767296986	missense variant	-	NC_000010.11:g.86921595C>G	gnomAD
BMPR1A	P36894	p.Asp414Asn	RCV000635451	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921593G>A	ClinVar
BMPR1A	P36894	p.Asp414Asn	rs1554891329	missense variant	-	NC_000010.11:g.86921593G>A	-
BMPR1A	P36894	p.Asp414Glu	RCV000580614	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921595C>G	ClinVar
BMPR1A	P36894	p.Asp414Glu	RCV000805463	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921595C>G	ClinVar
BMPR1A	P36894	p.Glu415Lys	rs140592056	missense variant	-	NC_000010.11:g.86921596G>A	NCI-TCGA
BMPR1A	P36894	p.Glu415Lys	rs140592056	missense variant	-	NC_000010.11:g.86921596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu415Asp	rs786204235	missense variant	-	NC_000010.11:g.86921598A>C	gnomAD
BMPR1A	P36894	p.Glu415Asp	RCV000168387	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Asp	RCV000587976	missense variant	-	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Ter	RCV000484302	frameshift	-	NC_000010.11:g.86921596_86921597delinsTTTC	ClinVar
BMPR1A	P36894	p.Glu415Asp	RCV000573444	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Lys	RCV000120252	missense variant	-	NC_000010.11:g.86921596G>A	ClinVar
BMPR1A	P36894	p.Ser416Asn	RCV000457437	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921600G>A	ClinVar
BMPR1A	P36894	p.Ser416Asn	rs1060503395	missense variant	-	NC_000010.11:g.86921600G>A	-
BMPR1A	P36894	p.Ser416Ter	RCV000571812	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598_86921599dup	ClinVar
BMPR1A	P36894	p.Leu417Val	RCV000685715	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921602C>G	ClinVar
BMPR1A	P36894	p.Asn420Lys	rs876660798	missense variant	-	NC_000010.11:g.86921613C>A	TOPMed
BMPR1A	P36894	p.Asn420Ser	rs1478085865	missense variant	-	NC_000010.11:g.86921612A>G	TOPMed
BMPR1A	P36894	p.Asn420Lys	rs876660798	missense variant	-	NC_000010.11:g.86921613C>G	TOPMed
BMPR1A	P36894	p.Asn420Lys	RCV000218661	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921613C>A	ClinVar
BMPR1A	P36894	p.His421Tyr	RCV000635410	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921614C>T	ClinVar
BMPR1A	P36894	p.His421Tyr	rs1554891338	missense variant	-	NC_000010.11:g.86921614C>T	-
BMPR1A	P36894	p.Phe422Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86921617T>G	NCI-TCGA
BMPR1A	P36894	p.Gln423His	rs1198334501	missense variant	-	NC_000010.11:g.86921622G>T	gnomAD
BMPR1A	P36894	p.Pro424Ser	RCV000580537	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921623C>T	ClinVar
BMPR1A	P36894	p.Pro424Ser	RCV000819098	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921623C>T	ClinVar
BMPR1A	P36894	p.Pro424Ser	rs201362537	missense variant	-	NC_000010.11:g.86921623C>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Tyr425Phe	rs758599378	missense variant	-	NC_000010.11:g.86921627A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr425Phe	RCV000195582	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921627A>T	ClinVar
BMPR1A	P36894	p.Tyr425Phe	RCV000222403	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921627A>T	ClinVar
BMPR1A	P36894	p.Ile426Val	rs780148965	missense variant	-	NC_000010.11:g.86921629A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile426Val	rs780148965	missense variant	-	NC_000010.11:g.86921629A>G	NCI-TCGA
BMPR1A	P36894	p.Ile426Leu	rs780148965	missense variant	-	NC_000010.11:g.86921629A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile426Val	RCV000198104	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>G	ClinVar
BMPR1A	P36894	p.Ile426Leu	RCV000459702	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>C	ClinVar
BMPR1A	P36894	p.Ile426Leu	RCV000564181	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921629A>C	ClinVar
BMPR1A	P36894	p.Met427Val	rs747090661	missense variant	-	NC_000010.11:g.86921632A>G	ExAC,gnomAD
BMPR1A	P36894	p.Met427Ile	rs769212314	missense variant	-	NC_000010.11:g.86921634G>A	ExAC,gnomAD
BMPR1A	P36894	p.Tyr431Cys	rs1554891343	missense variant	-	NC_000010.11:g.86921645A>G	-
BMPR1A	P36894	p.Tyr431Cys	RCV000569279	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921645A>G	ClinVar
BMPR1A	P36894	p.Gly434Ser	RCV000115827	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Gly434Ser	RCV000476402	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Gly434Ser	rs587780108	missense variant	-	NC_000010.11:g.86921653G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Gly434Ser	RCV000212149	missense variant	-	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Ile436Val	rs863224718	missense variant	-	NC_000010.11:g.86921659A>G	-
BMPR1A	P36894	p.Ile436Val	RCV000199311	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921659A>G	ClinVar
BMPR1A	P36894	p.Ile437Val	rs770073861	missense variant	-	NC_000010.11:g.86921662A>G	ExAC,gnomAD
BMPR1A	P36894	p.Trp438Ter	RCV000690555	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921667G>A	ClinVar
BMPR1A	P36894	p.Glu439Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.86921668G>T	NCI-TCGA
BMPR1A	P36894	p.Met440Val	rs1327393432	missense variant	-	NC_000010.11:g.86921671A>G	TOPMed
BMPR1A	P36894	p.Met440Ile	rs1554891352	missense variant	-	NC_000010.11:g.86921673G>A	-
BMPR1A	P36894	p.Met440Val	RCV000797683	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921671A>G	ClinVar
BMPR1A	P36894	p.Met440Val	RCV000566385	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921671A>G	ClinVar
BMPR1A	P36894	p.Met440Ile	RCV000635466	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921673G>A	ClinVar
BMPR1A	P36894	p.Ala441Ser	rs762731644	missense variant	-	NC_000010.11:g.86921674G>T	ExAC,gnomAD
BMPR1A	P36894	p.Ala441Val	RCV000704945	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921675C>T	ClinVar
BMPR1A	P36894	p.Arg442Cys	RCV000459415	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921677C>T	ClinVar
BMPR1A	P36894	p.Arg442Cys	RCV000131624	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921677C>T	ClinVar
BMPR1A	P36894	p.Arg442Cys	rs587782496	missense variant	-	NC_000010.11:g.86921677C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg442His	rs1554891354	missense variant	-	NC_000010.11:g.86921678G>A	-
BMPR1A	P36894	p.Arg442His	RCV000635444	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921678G>A	ClinVar
BMPR1A	P36894	p.Arg443Cys	RCV000123222	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	ClinVar
BMPR1A	P36894	p.Arg443His	RCV000216122	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921681G>A	ClinVar
BMPR1A	P36894	p.Arg443Cys	rs35619497	missense variant	-	NC_000010.11:g.86921680C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg443Cys	rs35619497	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt,dbSNP
BMPR1A	P36894	p.Arg443Cys	VAR_022831	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt
BMPR1A	P36894	p.Arg443His	rs876659155	missense variant	-	NC_000010.11:g.86921681G>A	-
BMPR1A	P36894	p.Arg443Cys	RCV000130683	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921680C>T	ClinVar
BMPR1A	P36894	p.Cys444Arg	rs774061725	missense variant	-	NC_000010.11:g.86921683T>C	ExAC,gnomAD
BMPR1A	P36894	p.Cys444Arg	RCV000507271	missense variant	-	NC_000010.11:g.86921683T>C	ClinVar
BMPR1A	P36894	p.Ile445Val	rs587781503	missense variant	-	NC_000010.11:g.86921686A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile445Val	RCV000557878	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000779844	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000129478	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000484454	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Gly448Glu	rs1475630647	missense variant	-	NC_000010.11:g.86923376G>A	TOPMed
BMPR1A	P36894	p.Ile449Thr	rs587781884	missense variant	-	NC_000010.11:g.86923379T>C	-
BMPR1A	P36894	p.Ile449Thr	RCV000130214	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923379T>C	ClinVar
BMPR1A	P36894	p.Ile449Thr	RCV000698507	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923379T>C	ClinVar
BMPR1A	P36894	p.Val450Leu	RCV000551563	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923381G>C	ClinVar
BMPR1A	P36894	p.Val450Met	RCV000130813	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923381G>A	ClinVar
BMPR1A	P36894	p.Val450Met	rs55932635	missense variant	-	NC_000010.11:g.86923381G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val450Leu	rs55932635	missense variant	-	NC_000010.11:g.86923381G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val450Met	rs55932635	missense variant	-	NC_000010.11:g.86923381G>A	NCI-TCGA,NCI-TCGA Cosmic
BMPR1A	P36894	p.Gln454Ter	RCV000569373	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923393C>T	ClinVar
BMPR1A	P36894	p.Gln454Ter	RCV000801917	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923393C>T	ClinVar
BMPR1A	P36894	p.Gln454Ter	rs1554891570	stop gained	-	NC_000010.11:g.86923393C>T	-
BMPR1A	P36894	p.Leu455Ser	rs1554891572	missense variant	-	NC_000010.11:g.86923397T>C	-
BMPR1A	P36894	p.Leu455Ser	RCV000635468	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923397T>C	ClinVar
BMPR1A	P36894	p.Leu455Phe	rs753694209	missense variant	-	NC_000010.11:g.86923398G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Leu455Phe	RCV000540010	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923398G>T	ClinVar
BMPR1A	P36894	p.Tyr458Ter	RCV000701773	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923407C>A	ClinVar
BMPR1A	P36894	p.Asn459Ser	RCV000779841	missense variant	-	NC_000010.11:g.86923409A>G	ClinVar
BMPR1A	P36894	p.Met460Ile	RCV000580906	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923413G>C	ClinVar
BMPR1A	P36894	p.Met460Ile	rs1206243685	missense variant	-	NC_000010.11:g.86923413G>C	TOPMed
BMPR1A	P36894	p.Met460Val	rs761612520	missense variant	-	NC_000010.11:g.86923411A>G	ExAC,gnomAD
BMPR1A	P36894	p.Met460Ile	RCV000550225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923413G>C	ClinVar
BMPR1A	P36894	p.Met460Thr	rs758309022	missense variant	-	NC_000010.11:g.86923412T>C	UniProt,dbSNP
BMPR1A	P36894	p.Met460Thr	VAR_077353	missense variant	-	NC_000010.11:g.86923412T>C	UniProt
BMPR1A	P36894	p.Met460Thr	rs758309022	missense variant	-	NC_000010.11:g.86923412T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met460Thr	RCV000796815	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000164562	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000763677	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000482353	missense variant	-	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Val461Leu	rs1160800840	missense variant	-	NC_000010.11:g.86923414G>T	gnomAD
BMPR1A	P36894	p.Val461Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86923414G>A	NCI-TCGA
BMPR1A	P36894	p.Pro462Leu	rs1418504897	missense variant	-	NC_000010.11:g.86923418C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Pro462Ser	rs1358264691	missense variant	-	NC_000010.11:g.86923417C>T	gnomAD
BMPR1A	P36894	p.Pro462Leu	RCV000635440	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923418C>T	ClinVar
BMPR1A	P36894	p.Asp464Val	rs1367928891	missense variant	-	NC_000010.11:g.86923424A>T	gnomAD
BMPR1A	P36894	p.Tyr467Ter	rs149787558	stop gained	-	NC_000010.11:g.86923434C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr467Ter	RCV000574255	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923434C>A	ClinVar
BMPR1A	P36894	p.Glu468Gln	RCV000519728	missense variant	-	NC_000010.11:g.86923435G>C	ClinVar
BMPR1A	P36894	p.Glu468Lys	rs199907158	missense variant	-	NC_000010.11:g.86923435G>A	NCI-TCGA
BMPR1A	P36894	p.Glu468Lys	rs199907158	missense variant	-	NC_000010.11:g.86923435G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu468Gln	rs199907158	missense variant	-	NC_000010.11:g.86923435G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu468Lys	RCV000635476	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923435G>A	ClinVar
BMPR1A	P36894	p.Asp469Asn	RCV000479202	missense variant	-	NC_000010.11:g.86923438G>A	ClinVar
BMPR1A	P36894	p.Asp469Asn	rs1064794161	missense variant	-	NC_000010.11:g.86923438G>A	-
BMPR1A	P36894	p.Asp469His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86923438G>C	NCI-TCGA
BMPR1A	P36894	p.Asp469Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86923440T>A	NCI-TCGA
BMPR1A	P36894	p.Met470Thr	rs199476089	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt,dbSNP
BMPR1A	P36894	p.Met470Thr	VAR_022832	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt
BMPR1A	P36894	p.Met470Thr	rs199476089	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86923442T>C	-
BMPR1A	P36894	p.Met470Thr	RCV000569040	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923442T>C	ClinVar
BMPR1A	P36894	p.Met470Ile	rs749743579	missense variant	-	NC_000010.11:g.86923443G>A	ExAC,gnomAD
BMPR1A	P36894	p.Met470Ile	RCV000576105	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923443G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	rs771452619	missense variant	-	NC_000010.11:g.86923444C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg471Cys	RCV000581065	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Arg471His	rs779371501	missense variant	-	NC_000010.11:g.86923445G>A	ExAC,gnomAD
BMPR1A	P36894	p.Arg471Cys	rs771452619	missense variant	-	NC_000010.11:g.86923444C>T	NCI-TCGA
BMPR1A	P36894	p.Arg471His	RCV000580005	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923445G>A	ClinVar
BMPR1A	P36894	p.Arg471His	RCV000703304	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923445G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	RCV000688695	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Arg471Cys	RCV000757031	missense variant	-	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Glu472Asp	rs1410256559	missense variant	-	NC_000010.11:g.86923449G>C	TOPMed
BMPR1A	P36894	p.Glu472Lys	rs587782836	missense variant	-	NC_000010.11:g.86923447G>A	-
BMPR1A	P36894	p.Glu472Asp	RCV000573530	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923449G>C	ClinVar
BMPR1A	P36894	p.Glu472Lys	RCV000132424	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923447G>A	ClinVar
BMPR1A	P36894	p.Glu472Asp	RCV000690147	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923449G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	rs567733221	missense variant	-	NC_000010.11:g.86923453G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val474Leu	RCV000481877	missense variant	-	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	rs567733221	missense variant	-	NC_000010.11:g.86923453G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val474Leu	RCV000467583	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	RCV000129399	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Lys477Arg	rs767995260	missense variant	-	NC_000010.11:g.86923463A>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys477Ile	RCV000656578	missense variant	-	NC_000010.11:g.86923463A>T	ClinVar
BMPR1A	P36894	p.Lys477Ile	rs767995260	missense variant	-	NC_000010.11:g.86923463A>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg478Cys	RCV000561021	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478Leu	RCV000772719	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923466G>T	ClinVar
BMPR1A	P36894	p.Arg478Leu	rs113849804	missense variant	-	NC_000010.11:g.86923466G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478His	RCV000515344	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923466G>A	ClinVar
BMPR1A	P36894	p.Arg478Cys	RCV000236117	missense variant	-	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478Cys	RCV000468095	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478His	RCV000235579	missense variant	-	NC_000010.11:g.86923466G>A	ClinVar
BMPR1A	P36894	p.Arg478His	rs113849804	missense variant	-	NC_000010.11:g.86923466G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478Cys	rs372178531	missense variant	-	NC_000010.11:g.86923465C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg480Leu	RCV000216078	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923472G>T	ClinVar
BMPR1A	P36894	p.Arg480Leu	RCV000692641	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923472G>T	ClinVar
BMPR1A	P36894	p.Arg480Gln	rs535109719	missense variant	-	NC_000010.11:g.86923472G>A	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Arg480Trp	rs876658515	missense variant	-	NC_000010.11:g.86923471C>T	-
BMPR1A	P36894	p.Arg480Leu	rs535109719	missense variant	-	NC_000010.11:g.86923472G>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Arg480Trp	RCV000466486	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923471C>T	ClinVar
BMPR1A	P36894	p.Arg480Trp	RCV000513335	missense variant	-	NC_000010.11:g.86923471C>T	ClinVar
BMPR1A	P36894	p.Arg480Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86923472G>C	NCI-TCGA
BMPR1A	P36894	p.Ile482Val	RCV000776412	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923477A>G	ClinVar
BMPR1A	P36894	p.Ile482Val	rs974639091	missense variant	-	NC_000010.11:g.86923477A>G	TOPMed,gnomAD
BMPR1A	P36894	p.Ile482Val	RCV000539230	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923477A>G	ClinVar
BMPR1A	P36894	p.Val483Met	rs1163897191	missense variant	-	NC_000010.11:g.86923480G>A	gnomAD
BMPR1A	P36894	p.Ser484Thr	RCV000635465	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923483T>A	ClinVar
BMPR1A	P36894	p.Ser484Thr	rs1554891611	missense variant	-	NC_000010.11:g.86923483T>A	-
BMPR1A	P36894	p.Ser484Thr	RCV000774893	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923483T>A	ClinVar
BMPR1A	P36894	p.Arg486Trp	rs767763451	missense variant	-	NC_000010.11:g.86923489C>T	NCI-TCGA,NCI-TCGA Cosmic
BMPR1A	P36894	p.Arg486Trp	rs767763451	missense variant	-	NC_000010.11:g.86923489C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg486Gln	RCV000635446	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923490G>A	ClinVar
BMPR1A	P36894	p.Arg486Gln	RCV000563574	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923490G>A	ClinVar
BMPR1A	P36894	p.Arg486Trp	RCV000553989	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923489C>T	ClinVar
BMPR1A	P36894	p.Arg486Gln	rs752802257	missense variant	-	NC_000010.11:g.86923490G>A	UniProt,dbSNP
BMPR1A	P36894	p.Arg486Gln	VAR_041400	missense variant	-	NC_000010.11:g.86923490G>A	UniProt
BMPR1A	P36894	p.Arg486Gln	rs752802257	missense variant	-	NC_000010.11:g.86923490G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg486Trp	RCV000568540	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923489C>T	ClinVar
BMPR1A	P36894	p.Trp487Ter	RCV000493497	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923493G>A	ClinVar
BMPR1A	P36894	p.Trp487Ter	rs1131691175	stop gained	-	NC_000010.11:g.86923493G>A	-
BMPR1A	P36894	p.Asn488Asp	RCV000579939	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923495A>G	ClinVar
BMPR1A	P36894	p.Asn488Asp	rs1554891616	missense variant	-	NC_000010.11:g.86923495A>G	-
BMPR1A	P36894	p.Ser489Thr	RCV000777189	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923499G>C	ClinVar
BMPR1A	P36894	p.Ser489Thr	RCV000532258	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923499G>C	ClinVar
BMPR1A	P36894	p.Ser489Thr	rs1554891617	missense variant	-	NC_000010.11:g.86923499G>C	-
BMPR1A	P36894	p.Asp490Gly	rs756222157	missense variant	-	NC_000010.11:g.86923502A>G	ExAC,gnomAD
BMPR1A	P36894	p.Asp490Gly	RCV000565108	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923502A>G	ClinVar
BMPR1A	P36894	p.Glu491Lys	rs1329735599	missense variant	-	NC_000010.11:g.86923504G>A	gnomAD
BMPR1A	P36894	p.Glu491Lys	RCV000635420	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923504G>A	ClinVar
BMPR1A	P36894	p.Glu491Lys	RCV000580662	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923504G>A	ClinVar
BMPR1A	P36894	p.Cys492Arg	rs764319366	missense variant	-	NC_000010.11:g.86923594T>C	ExAC,gnomAD
BMPR1A	P36894	p.Cys492Tyr	rs1256130183	missense variant	-	NC_000010.11:g.86923595G>A	gnomAD
BMPR1A	P36894	p.Cys492Phe	rs1256130183	missense variant	-	NC_000010.11:g.86923595G>T	gnomAD
BMPR1A	P36894	p.Cys492Tyr	RCV000575987	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>A	ClinVar
BMPR1A	P36894	p.Cys492Phe	RCV000564886	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>T	ClinVar
BMPR1A	P36894	p.Arg494Gln	RCV000635429	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923601G>A	ClinVar
BMPR1A	P36894	p.Arg494Ter	rs786201040	stop gained	-	NC_000010.11:g.86923600C>T	gnomAD
BMPR1A	P36894	p.Arg494Gln	RCV000580696	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923601G>A	ClinVar
BMPR1A	P36894	p.Arg494Ter	rs786201040	stop gained	-	NC_000010.11:g.86923600C>T	NCI-TCGA,NCI-TCGA Cosmic
BMPR1A	P36894	p.Arg494Ter	RCV000483189	nonsense	-	NC_000010.11:g.86923600C>T	ClinVar
BMPR1A	P36894	p.Arg494Gln	rs1204089728	missense variant	-	NC_000010.11:g.86923601G>A	gnomAD
BMPR1A	P36894	p.Ala495Val	rs876660569	missense variant	-	NC_000010.11:g.86923604C>T	-
BMPR1A	P36894	p.Ala495Val	RCV000219381	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923604C>T	ClinVar
BMPR1A	P36894	p.Val496Ile	rs753939029	missense variant	-	NC_000010.11:g.86923606G>A	ExAC,gnomAD
BMPR1A	P36894	p.Leu499Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86923616T>G	NCI-TCGA
BMPR1A	P36894	p.Met500Val	RCV000462223	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000561192	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	rs376651641	missense variant	-	NC_000010.11:g.86923618A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met500Val	RCV000345991	missense variant	Juvenile Polyposis	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000664164	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000486559	missense variant	-	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Ser501Ter	RCV000662601	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923622C>G	ClinVar
BMPR1A	P36894	p.Ser501Ter	rs1554891649	stop gained	-	NC_000010.11:g.86923622C>G	-
BMPR1A	P36894	p.Ser501Ala	RCV000685762	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923621T>G	ClinVar
BMPR1A	P36894	p.Cys503Ser	rs1554891650	missense variant	-	NC_000010.11:g.86923627T>A	-
BMPR1A	P36894	p.Cys503Tyr	rs869312790	missense variant	-	NC_000010.11:g.86923628G>A	-
BMPR1A	P36894	p.Cys503Ser	RCV000635463	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923627T>A	ClinVar
BMPR1A	P36894	p.Cys503Tyr	RCV000210184	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923628G>A	ClinVar
BMPR1A	P36894	p.Trp504Ter	RCV000226766	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923631G>A	ClinVar
BMPR1A	P36894	p.Trp504Ter	rs878854664	stop gained	-	NC_000010.11:g.86923631G>A	-
BMPR1A	P36894	p.Trp504Ter	RCV000494677	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923631G>A	ClinVar
BMPR1A	P36894	p.Trp504Ter	rs878854664	stop gained	-	NC_000010.11:g.86923631G>A	NCI-TCGA
BMPR1A	P36894	p.Ala505Thr	RCV000579448	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923633G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	RCV000470753	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923633G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	rs369966011	missense variant	-	NC_000010.11:g.86923633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn507Ser	rs750840234	missense variant	-	NC_000010.11:g.86923640A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn507Ser	RCV000229682	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Asn507Ser	RCV000563202	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Asn507Ser	RCV000761117	missense variant	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Ala509Ser	RCV000704024	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923645G>T	ClinVar
BMPR1A	P36894	p.Arg511Thr	RCV000481601	missense variant	-	NC_000010.11:g.86923652G>C	ClinVar
BMPR1A	P36894	p.Arg511Ser	rs730881437	missense variant	-	NC_000010.11:g.86923653A>C	-
BMPR1A	P36894	p.Arg511Thr	rs1064793783	missense variant	-	NC_000010.11:g.86923652G>C	-
BMPR1A	P36894	p.Arg511Ser	RCV000159841	missense variant	-	NC_000010.11:g.86923653A>C	ClinVar
BMPR1A	P36894	p.Leu512Pro	RCV000777155	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923655T>C	ClinVar
BMPR1A	P36894	p.Leu512Phe	rs1554891661	missense variant	-	NC_000010.11:g.86923654C>T	-
BMPR1A	P36894	p.Leu512Phe	RCV000635487	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923654C>T	ClinVar
BMPR1A	P36894	p.Thr513Arg	RCV000570983	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923658C>G	ClinVar
BMPR1A	P36894	p.Thr513Arg	rs1201398448	missense variant	-	NC_000010.11:g.86923658C>G	TOPMed
BMPR1A	P36894	p.Thr513SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.86923656_86923657CA>-	NCI-TCGA
BMPR1A	P36894	p.Arg516Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86923667G>T	NCI-TCGA
BMPR1A	P36894	p.Ile517Ser	RCV000562011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923670T>G	ClinVar
BMPR1A	P36894	p.Ile517Ser	rs1554891667	missense variant	-	NC_000010.11:g.86923670T>G	-
BMPR1A	P36894	p.Ile517Val	rs754607465	missense variant	-	NC_000010.11:g.86923669A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile517Val	RCV000635411	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923669A>G	ClinVar
BMPR1A	P36894	p.Ile517Val	RCV000220935	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923669A>G	ClinVar
BMPR1A	P36894	p.Lys518Asn	rs1554891668	missense variant	-	NC_000010.11:g.86923674G>C	-
BMPR1A	P36894	p.Lys518Asn	RCV000538426	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923674G>C	ClinVar
BMPR1A	P36894	p.Thr520Met	rs1179044384	missense variant	-	NC_000010.11:g.86923679C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Thr520Met	RCV000701922	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923679C>T	ClinVar
BMPR1A	P36894	p.Leu521Ter	RCV000567697	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923679_86923680insTT	ClinVar
BMPR1A	P36894	p.Leu521Pro	rs1131691169	missense variant	-	NC_000010.11:g.86923682T>C	-
BMPR1A	P36894	p.Leu521Pro	RCV000494307	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923682T>C	ClinVar
BMPR1A	P36894	p.Leu521Phe	COSM1349424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.86923681C>T	NCI-TCGA Cosmic
BMPR1A	P36894	p.Ala522Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.86923685C>T	NCI-TCGA
BMPR1A	P36894	p.Lys523Arg	rs878854665	missense variant	-	NC_000010.11:g.86923688A>G	gnomAD
BMPR1A	P36894	p.Lys523Arg	RCV000232462	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923688A>G	ClinVar
BMPR1A	P36894	p.Met524Ile	rs1064793404	missense variant	-	NC_000010.11:g.86923692G>T	TOPMed
BMPR1A	P36894	p.Met524Leu	rs747640982	missense variant	-	NC_000010.11:g.86923690A>C	ExAC,gnomAD
BMPR1A	P36894	p.Met524Ile	RCV000479352	missense variant	-	NC_000010.11:g.86923692G>T	ClinVar
BMPR1A	P36894	p.Met524Val	RCV000817674	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923690A>G	ClinVar
BMPR1A	P36894	p.Met524Val	RCV000773711	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923690A>G	ClinVar
BMPR1A	P36894	p.Val525Ile	RCV000777247	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Val525Gly	rs1054284858	missense variant	-	NC_000010.11:g.86923694T>G	TOPMed
BMPR1A	P36894	p.Val525Ile	rs769233029	missense variant	-	NC_000010.11:g.86923693G>A	ExAC,gnomAD
BMPR1A	P36894	p.Val525Ile	RCV000471649	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Val525Ile	RCV000236238	missense variant	-	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Gln528His	RCV000776891	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923704A>C	ClinVar
BMPR1A	P36894	p.Gln528His	rs1554891680	missense variant	-	NC_000010.11:g.86923704A>C	-
BMPR1A	P36894	p.Gln528Ter	rs1554891677	stop gained	-	NC_000010.11:g.86923702C>T	-
BMPR1A	P36894	p.Gln528Ter	rs1554891677	stop gained	-	NC_000010.11:g.86923702C>T	NCI-TCGA Cosmic
BMPR1A	P36894	p.Gln528His	RCV000531496	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923704A>C	ClinVar
BMPR1A	P36894	p.Gln528Ter	RCV000563445	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923702C>T	ClinVar
BMPR1A	P36894	p.Asp529Glu	rs864622175	missense variant	-	NC_000010.11:g.86923707T>A	TOPMed
BMPR1A	P36894	p.Asp529Val	rs1276173920	missense variant	-	NC_000010.11:g.86923706A>T	gnomAD
BMPR1A	P36894	p.Asp529Glu	RCV000572604	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923707T>A	ClinVar
BMPR1A	P36894	p.Asp529Glu	RCV000205016	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923707T>A	ClinVar
BMPR1A	P36894	p.Ile532Met	RCV000129250	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Ile532Met	rs201345248	missense variant	-	NC_000010.11:g.86923716C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile532Met	RCV000034702	missense variant	-	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Ile532Met	RCV000470094	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Met1Val	RCV000166343	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>G	ClinVar
BMPR1A	P36894	p.Met1Leu	RCV000492794	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>C	ClinVar
BMPR1A	P36894	p.Met1Ile	RCV000210125	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876021G>C	ClinVar
BMPR1A	P36894	p.Met1Val	RCV000556943	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876019A>G	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000120253	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000525840	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000131909	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Arg	rs143248687	missense variant	-	NC_000010.11:g.86876023C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Thr	rs11528010	missense variant	-	NC_000010.11:g.86876022C>A	UniProt,dbSNP
BMPR1A	P36894	p.Pro2Thr	VAR_041397	missense variant	-	NC_000010.11:g.86876022C>A	UniProt
BMPR1A	P36894	p.Pro2Thr	rs11528010	missense variant	-	NC_000010.11:g.86876022C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Leu	RCV000411290	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Pro2Leu	RCV000562590	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Pro2Leu	rs143248687	missense variant	-	NC_000010.11:g.86876023C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Thr	RCV000034703	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000309392	missense variant	Juvenile Polyposis	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Leu	RCV000588955	missense variant	-	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Gln3Pro	rs1554886804	missense variant	-	NC_000010.11:g.86876026A>C	-
BMPR1A	P36894	p.Gln3Pro	RCV000580930	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876026A>C	ClinVar
BMPR1A	P36894	p.Tyr5Ter	rs1392086533	stop gained	-	NC_000010.11:g.86876033C>A	gnomAD
BMPR1A	P36894	p.Tyr5Ter	RCV000565507	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876033C>A	ClinVar
BMPR1A	P36894	p.Tyr7His	rs762926643	missense variant	-	NC_000010.11:g.86876037T>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr7His	RCV000705938	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876037T>C	ClinVar
BMPR1A	P36894	p.Tyr7His	RCV000582252	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876037T>C	ClinVar
BMPR1A	P36894	p.Ile8Val	rs863224719	missense variant	-	NC_000010.11:g.86876040A>G	TOPMed
BMPR1A	P36894	p.Ile8Val	RCV000195699	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876040A>G	ClinVar
BMPR1A	P36894	p.Ile8Val	RCV000214029	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876040A>G	ClinVar
BMPR1A	P36894	p.Arg9Thr	RCV000523833	missense variant	-	NC_000010.11:g.86876044G>C	ClinVar
BMPR1A	P36894	p.Arg9Thr	rs766269417	missense variant	-	NC_000010.11:g.86876044G>C	ExAC,gnomAD
BMPR1A	P36894	p.Ala13Thr	RCV000233196	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876055G>A	ClinVar
BMPR1A	P36894	p.Ala13Thr	rs200115604	missense variant	-	NC_000010.11:g.86876055G>A	1000Genomes,TOPMed
BMPR1A	P36894	p.Ala13Gly	rs754015069	missense variant	-	NC_000010.11:g.86876056C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ala13Thr	RCV000572173	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876055G>A	ClinVar
BMPR1A	P36894	p.Tyr14Ter	RCV000657333	frameshift	-	NC_000010.11:g.86876058dup	ClinVar
BMPR1A	P36894	p.Tyr14Ter	RCV000759483	frameshift	-	NC_000010.11:g.86876057del	ClinVar
BMPR1A	P36894	p.Leu15Ter	RCV000635432	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876062_86876065del	ClinVar
BMPR1A	P36894	p.Phe16Cys	RCV000159833	missense variant	-	NC_000010.11:g.86876065T>G	ClinVar
BMPR1A	P36894	p.Phe16Tyr	rs151235720	missense variant	-	NC_000010.11:g.86876065T>A	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Phe16Cys	rs151235720	missense variant	-	NC_000010.11:g.86876065T>G	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Ile17Leu	RCV000758774	missense variant	-	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile17Leu	rs778886055	missense variant	-	NC_000010.11:g.86876067A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile17Val	rs778886055	missense variant	-	NC_000010.11:g.86876067A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile17Leu	RCV000216319	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile17Leu	RCV000701225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile18Thr	rs745920240	missense variant	-	NC_000010.11:g.86876071T>C	ExAC,gnomAD
BMPR1A	P36894	p.Arg20His	rs759014147	missense variant	-	NC_000010.11:g.86876077G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg20Cys	RCV000580767	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876076C>T	ClinVar
BMPR1A	P36894	p.Arg20Cys	RCV000553756	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876076C>T	ClinVar
BMPR1A	P36894	p.Arg20Cys	rs1472397694	missense variant	-	NC_000010.11:g.86876076C>T	TOPMed
BMPR1A	P36894	p.Arg20His	RCV000213165	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876077G>A	ClinVar
BMPR1A	P36894	p.Gln22Ter	rs1554886821	stop gained	-	NC_000010.11:g.86876082C>T	-
BMPR1A	P36894	p.Gln22Pro	rs747437716	missense variant	-	NC_000010.11:g.86876083A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln22His	rs786204152	missense variant	-	NC_000010.11:g.86876084A>C	-
BMPR1A	P36894	p.Gln22His	RCV000168143	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876084A>C	ClinVar
BMPR1A	P36894	p.Gln22His	RCV000758776	missense variant	-	NC_000010.11:g.86876084A>C	ClinVar
BMPR1A	P36894	p.Gln22Ter	RCV000521828	nonsense	-	NC_000010.11:g.86876082C>T	ClinVar
BMPR1A	P36894	p.Gln22Pro	RCV000704484	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876083A>C	ClinVar
BMPR1A	P36894	p.Gln22Pro	RCV000480437	missense variant	-	NC_000010.11:g.86876083A>C	ClinVar
BMPR1A	P36894	p.Gly23Arg	rs1131691171	missense variant	-	NC_000010.11:g.86876085G>A	-
BMPR1A	P36894	p.Gly23Arg	RCV000494227	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876085G>A	ClinVar
BMPR1A	P36894	p.Gln24Arg	rs1163365235	missense variant	-	NC_000010.11:g.86890065A>G	gnomAD
BMPR1A	P36894	p.Asn25Ser	RCV000487317	missense variant	-	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Asn25Ser	rs1060503410	missense variant	-	NC_000010.11:g.86890068A>G	-
BMPR1A	P36894	p.Asn25Ser	RCV000566090	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Asn25Ser	RCV000463279	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Leu26Pro	rs200307579	missense variant	-	NC_000010.11:g.86890071T>C	1000Genomes
BMPR1A	P36894	p.Asp27Tyr	rs1430886611	missense variant	-	NC_000010.11:g.86890073G>T	gnomAD
BMPR1A	P36894	p.Ser28Asn	RCV000196492	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Ser28Asn	RCV000568404	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Ser28Asn	rs371904636	missense variant	-	NC_000010.11:g.86890077G>A	ESP,TOPMed,gnomAD
BMPR1A	P36894	p.Ser28Gly	rs1170582171	missense variant	-	NC_000010.11:g.86890076A>G	gnomAD
BMPR1A	P36894	p.Ser28Asn	RCV000483899	missense variant	-	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Leu30Arg	RCV000580173	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890083T>G	ClinVar
BMPR1A	P36894	p.Leu30Arg	rs1194403044	missense variant	-	NC_000010.11:g.86890083T>G	TOPMed
BMPR1A	P36894	p.His31Gln	rs1461705514	missense variant	-	NC_000010.11:g.86890087T>A	gnomAD
BMPR1A	P36894	p.Gly32Arg	RCV000522769	missense variant	-	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Gly32Arg	rs755462552	missense variant	-	NC_000010.11:g.86890088G>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly32Arg	RCV000461457	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Gly32Arg	RCV000572168	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Thr33Ser	rs142454490	missense variant	-	NC_000010.11:g.86890092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr33Ala	rs748515167	missense variant	-	NC_000010.11:g.86890091A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr33Ser	RCV000569418	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890092C>G	ClinVar
BMPR1A	P36894	p.Thr33Ala	RCV000565843	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890091A>G	ClinVar
BMPR1A	P36894	p.Thr33Ala	RCV000552227	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890091A>G	ClinVar
BMPR1A	P36894	p.Gly34Ala	RCV000159834	missense variant	-	NC_000010.11:g.86890095G>C	ClinVar
BMPR1A	P36894	p.Gly34Ala	RCV000213466	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890095G>C	ClinVar
BMPR1A	P36894	p.Gly34Ala	rs730881430	missense variant	-	NC_000010.11:g.86890095G>C	-
BMPR1A	P36894	p.Met35Ile	RCV000772959	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890099G>T	ClinVar
BMPR1A	P36894	p.Met35Val	rs1043850286	missense variant	-	NC_000010.11:g.86890097A>G	TOPMed
BMPR1A	P36894	p.Lys36Thr	RCV000776991	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890101A>C	ClinVar
BMPR1A	P36894	p.Asp38Glu	RCV000573226	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890108C>G	ClinVar
BMPR1A	P36894	p.Asp38Glu	rs1021443408	missense variant	-	NC_000010.11:g.86890108C>G	TOPMed,gnomAD
BMPR1A	P36894	p.Asp38His	rs1554888103	missense variant	-	NC_000010.11:g.86890106G>C	-
BMPR1A	P36894	p.Asp38Glu	RCV000822318	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890108C>G	ClinVar
BMPR1A	P36894	p.Asp38His	RCV000580814	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890106G>C	ClinVar
BMPR1A	P36894	p.Ser39Tyr	rs876658859	missense variant	-	NC_000010.11:g.86890110C>A	-
BMPR1A	P36894	p.Ser39Ter	RCV000144578	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890109_86890110insA	ClinVar
BMPR1A	P36894	p.Ser39Phe	rs876658859	missense variant	-	NC_000010.11:g.86890110C>T	-
BMPR1A	P36894	p.Ser39Phe	RCV000808348	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890110C>T	ClinVar
BMPR1A	P36894	p.Ser39Tyr	RCV000580363	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>A	ClinVar
BMPR1A	P36894	p.Ser39Phe	RCV000223454	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>T	ClinVar
BMPR1A	P36894	p.Asp40Asn	rs587781556	missense variant	-	NC_000010.11:g.86890112G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp40Ala	rs1060503403	missense variant	-	NC_000010.11:g.86890113A>C	TOPMed
BMPR1A	P36894	p.Asp40Gly	RCV000635436	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>G	ClinVar
BMPR1A	P36894	p.Asp40Asn	RCV000521982	missense variant	-	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Asn	RCV000464702	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Asn	RCV000129572	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Gly	rs1060503403	missense variant	-	NC_000010.11:g.86890113A>G	TOPMed
BMPR1A	P36894	p.Asp40Ala	RCV000561127	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890113A>C	ClinVar
BMPR1A	P36894	p.Asp40Ala	RCV000463813	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>C	ClinVar
BMPR1A	P36894	p.Gln41Arg	rs1363945274	missense variant	-	NC_000010.11:g.86890116A>G	TOPMed
BMPR1A	P36894	p.Lys42Glu	rs786203156	missense variant	-	NC_000010.11:g.86890118A>G	-
BMPR1A	P36894	p.Lys42Glu	RCV000166341	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890118A>G	ClinVar
BMPR1A	P36894	p.Lys42Glu	RCV000635485	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890118A>G	ClinVar
BMPR1A	P36894	p.Glu45Lys	RCV000536243	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127G>A	ClinVar
BMPR1A	P36894	p.Glu45Gly	RCV000697948	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890128A>G	ClinVar
BMPR1A	P36894	p.Glu45Ter	RCV000705111	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127_86890128del	ClinVar
BMPR1A	P36894	p.Glu45Lys	rs1554888112	missense variant	-	NC_000010.11:g.86890127G>A	-
BMPR1A	P36894	p.Gly47Glu	RCV000231777	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890134G>A	ClinVar
BMPR1A	P36894	p.Gly47Val	rs368595543	missense variant	-	NC_000010.11:g.86890134G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly47Glu	RCV000166542	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890134G>A	ClinVar
BMPR1A	P36894	p.Gly47Ter	RCV000687804	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890133G>T	ClinVar
BMPR1A	P36894	p.Gly47Glu	rs368595543	missense variant	-	NC_000010.11:g.86890134G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly47Val	RCV000478286	missense variant	-	NC_000010.11:g.86890134G>T	ClinVar
BMPR1A	P36894	p.Val48Ile	rs775188308	missense variant	-	NC_000010.11:g.86890136G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr49Ter	RCV000478294	frameshift	-	NC_000010.11:g.86890137dup	ClinVar
BMPR1A	P36894	p.Ala51Thr	RCV000566608	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890145G>A	ClinVar
BMPR1A	P36894	p.Ala51Thr	RCV000824159	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890145G>A	ClinVar
BMPR1A	P36894	p.Ala51Thr	rs1554888117	missense variant	-	NC_000010.11:g.86890145G>A	-
BMPR1A	P36894	p.Glu53Lys	RCV000580074	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890151G>A	ClinVar
BMPR1A	P36894	p.Glu53Gly	RCV000572940	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890152A>G	ClinVar
BMPR1A	P36894	p.Glu53Gly	rs1554888120	missense variant	-	NC_000010.11:g.86890152A>G	-
BMPR1A	P36894	p.Glu53Lys	rs1554888119	missense variant	-	NC_000010.11:g.86890151G>A	-
BMPR1A	P36894	p.Asp54Val	rs1554888124	missense variant	-	NC_000010.11:g.86890155A>T	-
BMPR1A	P36894	p.Asp54Val	RCV000635483	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890155A>T	ClinVar
BMPR1A	P36894	p.Asp54Ter	RCV000492863	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890154del	ClinVar
BMPR1A	P36894	p.Leu56Trp	rs1554888125	missense variant	-	NC_000010.11:g.86890161T>G	-
BMPR1A	P36894	p.Leu56Trp	RCV000635418	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890161T>G	ClinVar
BMPR1A	P36894	p.Pro57Arg	RCV000494075	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890164C>G	ClinVar
BMPR1A	P36894	p.Pro57Arg	rs1057517610	missense variant	-	NC_000010.11:g.86890164C>G	gnomAD
BMPR1A	P36894	p.Phe58Ter	RCV000546241	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170del	ClinVar
BMPR1A	P36894	p.Phe58Ter	RCV000162393	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890170del	ClinVar
BMPR1A	P36894	p.Phe58Tyr	VAR_041398	Missense	-	-	UniProt
BMPR1A	P36894	p.Leu59Ter	RCV000755041	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170T>A	ClinVar
BMPR1A	P36894	p.Tyr62Cys	rs1060503402	missense variant	-	NC_000010.11:g.86890179A>G	-
BMPR1A	P36894	p.Tyr62Cys	RCV000477054	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890179A>G	ClinVar
BMPR1A	P36894	p.Tyr62Cys	RCV000572912	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890179A>G	ClinVar
BMPR1A	P36894	p.Tyr62Asp	VAR_022828	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
BMPR1A	P36894	p.Cys63Ter	RCV000777502	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890183C>A	ClinVar
BMPR1A	P36894	p.Ser64Leu	rs760515128	missense variant	-	NC_000010.11:g.86890185C>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser64Thr	rs201749804	missense variant	-	NC_000010.11:g.86890184T>A	1000Genomes
BMPR1A	P36894	p.Ser64Leu	RCV000570508	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890185C>T	ClinVar
BMPR1A	P36894	p.Ser64Leu	RCV000235281	missense variant	-	NC_000010.11:g.86890185C>T	ClinVar
BMPR1A	P36894	p.Asp69Tyr	RCV000635479	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890199G>T	ClinVar
BMPR1A	P36894	p.Asp69Ter	RCV000570399	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890193_86890197dup	ClinVar
BMPR1A	P36894	p.Asp69Gly	RCV000570711	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890200A>G	ClinVar
BMPR1A	P36894	p.Asp69Gly	rs1554888137	missense variant	-	NC_000010.11:g.86890200A>G	-
BMPR1A	P36894	p.Asp69His	rs1177143902	missense variant	-	NC_000010.11:g.86890199G>C	gnomAD
BMPR1A	P36894	p.Asp69Tyr	rs1177143902	missense variant	-	NC_000010.11:g.86890199G>T	gnomAD
BMPR1A	P36894	p.Asp70Val	RCV000465318	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890203A>T	ClinVar
BMPR1A	P36894	p.Asp70Val	rs1060503394	missense variant	-	NC_000010.11:g.86890203A>T	-
BMPR1A	P36894	p.Asp70Val	RCV000759481	missense variant	-	NC_000010.11:g.86890203A>T	ClinVar
BMPR1A	P36894	p.Ala71Ter	RCV000460119	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890207_86890222del	ClinVar
BMPR1A	P36894	p.Ile72Val	rs1064795729	missense variant	-	NC_000010.11:g.86890208A>G	-
BMPR1A	P36894	p.Ile72Val	RCV000530720	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Ile72Val	RCV000484198	missense variant	-	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Ile72Val	RCV000776272	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Asn73Ter	RCV000163765	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890210dup	ClinVar
BMPR1A	P36894	p.Thr75Ala	RCV000572222	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890217A>G	ClinVar
BMPR1A	P36894	p.Thr75Ala	rs1554888142	missense variant	-	NC_000010.11:g.86890217A>G	-
BMPR1A	P36894	p.Cys76Tyr	rs786201792	missense variant	-	NC_000010.11:g.86890221G>A	-
BMPR1A	P36894	p.Cys76Tyr	RCV000164261	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890221G>A	ClinVar
BMPR1A	P36894	p.Ile77Val	rs878854666	missense variant	-	NC_000010.11:g.86890223A>G	-
BMPR1A	P36894	p.Ile77Val	RCV000226374	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890223A>G	ClinVar
BMPR1A	P36894	p.Thr78Ser	rs1064793490	missense variant	-	NC_000010.11:g.86892129C>G	gnomAD
BMPR1A	P36894	p.Thr78Ile	RCV000478119	missense variant	-	NC_000010.11:g.86892129C>T	ClinVar
BMPR1A	P36894	p.Thr78Ile	RCV000794170	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892129C>T	ClinVar
BMPR1A	P36894	p.Thr78Ile	rs1064793490	missense variant	-	NC_000010.11:g.86892129C>T	gnomAD
BMPR1A	P36894	p.His81Leu	rs1064793333	missense variant	-	NC_000010.11:g.86892138A>T	TOPMed
BMPR1A	P36894	p.His81Arg	RCV000478543	missense variant	-	NC_000010.11:g.86892138A>G	ClinVar
BMPR1A	P36894	p.His81Arg	rs1064793333	missense variant	-	NC_000010.11:g.86892138A>G	TOPMed
BMPR1A	P36894	p.His81Tyr	rs953797046	missense variant	-	NC_000010.11:g.86892137C>T	TOPMed,gnomAD
BMPR1A	P36894	p.His81Tyr	RCV000560576	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892137C>T	ClinVar
BMPR1A	P36894	p.His81Arg	RCV000580728	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>G	ClinVar
BMPR1A	P36894	p.His81Tyr	RCV000561451	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892137C>T	ClinVar
BMPR1A	P36894	p.His81Leu	RCV000694497	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892138A>T	ClinVar
BMPR1A	P36894	p.His81Leu	RCV000567266	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>T	ClinVar
BMPR1A	P36894	p.Cys82Gly	RCV000456263	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892140T>G	ClinVar
BMPR1A	P36894	p.Cys82Phe	rs1554888310	missense variant	-	NC_000010.11:g.86892141G>T	-
BMPR1A	P36894	p.Cys82Ter	rs759647230	stop gained	-	NC_000010.11:g.86892142C>A	ExAC,gnomAD
BMPR1A	P36894	p.Cys82Gly	rs1060503406	missense variant	-	NC_000010.11:g.86892140T>G	-
BMPR1A	P36894	p.Cys82Phe	RCV000574493	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892141G>T	ClinVar
BMPR1A	P36894	p.Cys82Ter	RCV000214108	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892142C>A	ClinVar
BMPR1A	P36894	p.Cys82Tyr	VAR_022829	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
BMPR1A	P36894	p.Phe83Ter	RCV000168250	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892143_86892147del	ClinVar
BMPR1A	P36894	p.Ala84Thr	rs1456980302	missense variant	-	NC_000010.11:g.86892146G>A	TOPMed
BMPR1A	P36894	p.Ala84Thr	RCV000773974	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892146G>A	ClinVar
BMPR1A	P36894	p.Ala84Thr	RCV000801612	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892146G>A	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000487158	missense variant	-	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000130327	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000206721	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	rs374739820	missense variant	-	NC_000010.11:g.86892149A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile86Thr	rs876659498	missense variant	-	NC_000010.11:g.86892153T>C	TOPMed
BMPR1A	P36894	p.Ile86Val	rs1554888312	missense variant	-	NC_000010.11:g.86892152A>G	-
BMPR1A	P36894	p.Ile86Val	RCV000579713	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892152A>G	ClinVar
BMPR1A	P36894	p.Ile86Val	RCV000819731	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892152A>G	ClinVar
BMPR1A	P36894	p.Ile86Thr	RCV000221898	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892153T>C	ClinVar
BMPR1A	P36894	p.Glu88Ter	rs730881431	stop gained	-	NC_000010.11:g.86892158G>T	-
BMPR1A	P36894	p.Glu88Ter	RCV000493126	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892158G>T	ClinVar
BMPR1A	P36894	p.Glu88Ter	RCV000159835	nonsense	-	NC_000010.11:g.86892158G>T	ClinVar
BMPR1A	P36894	p.Gln91Ter	rs878854667	stop gained	-	NC_000010.11:g.86892167C>T	-
BMPR1A	P36894	p.Gln91Lys	rs878854667	missense variant	-	NC_000010.11:g.86892167C>A	-
BMPR1A	P36894	p.Gln91Ter	RCV000573228	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892167C>T	ClinVar
BMPR1A	P36894	p.Gln91Lys	RCV000229144	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892167C>A	ClinVar
BMPR1A	P36894	p.Gly92Ter	RCV000583582	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892171del	ClinVar
BMPR1A	P36894	p.Thr95Ala	RCV000804756	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892179A>G	ClinVar
BMPR1A	P36894	p.Thr95Ala	RCV000759482	missense variant	-	NC_000010.11:g.86892179A>G	ClinVar
BMPR1A	P36894	p.Leu96Val	rs1554888320	missense variant	-	NC_000010.11:g.86892182T>G	-
BMPR1A	P36894	p.Leu96Val	RCV000566080	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182T>G	ClinVar
BMPR1A	P36894	p.Ala97Ter	RCV000210116	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182_86892185dup	ClinVar
BMPR1A	P36894	p.Ser98Ala	RCV000776966	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892188T>G	ClinVar
BMPR1A	P36894	p.Ser98Ala	RCV000700875	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892188T>G	ClinVar
BMPR1A	P36894	p.Ser98Leu	rs756541429	missense variant	-	NC_000010.11:g.86892189C>T	ExAC,gnomAD
BMPR1A	P36894	p.Cys100Gly	RCV000562825	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892194T>G	ClinVar
BMPR1A	P36894	p.Cys100Gly	rs1554888323	missense variant	-	NC_000010.11:g.86892194T>G	-
BMPR1A	P36894	p.Tyr103Ter	rs876658891	stop gained	-	NC_000010.11:g.86892205T>G	-
BMPR1A	P36894	p.Tyr103Ter	RCV000218016	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892205T>G	ClinVar
BMPR1A	P36894	p.Phe108Leu	rs1554888328	missense variant	-	NC_000010.11:g.86892218T>C	-
BMPR1A	P36894	p.Phe108Leu	RCV000635475	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892218T>C	ClinVar
BMPR1A	P36894	p.Gln109Ter	RCV000573819	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892221del	ClinVar
BMPR1A	P36894	p.Lys111Arg	RCV000477480	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892228A>G	ClinVar
BMPR1A	P36894	p.Lys111Arg	rs756944246	missense variant	-	NC_000010.11:g.86892228A>G	ExAC,gnomAD
BMPR1A	P36894	p.Pro114Leu	rs757608699	missense variant	-	NC_000010.11:g.86899801C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro114Ser	rs1554888960	missense variant	-	NC_000010.11:g.86899800C>T	-
BMPR1A	P36894	p.Pro114Ser	RCV000635442	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899800C>T	ClinVar
BMPR1A	P36894	p.Ala116Val	rs750097648	missense variant	-	NC_000010.11:g.86899807C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala116Thr	rs765530870	missense variant	-	NC_000010.11:g.86899806G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ala116Val	RCV000221176	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899807C>T	ClinVar
BMPR1A	P36894	p.Gln117Arg	RCV000570895	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899810A>G	ClinVar
BMPR1A	P36894	p.Gln117Arg	rs1360094214	missense variant	-	NC_000010.11:g.86899810A>G	TOPMed
BMPR1A	P36894	p.Leu118Val	RCV000131465	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899812C>G	ClinVar
BMPR1A	P36894	p.Leu118Val	rs587782418	missense variant	-	NC_000010.11:g.86899812C>G	-
BMPR1A	P36894	p.Arg119Cys	RCV000757030	missense variant	-	NC_000010.11:g.86899815C>T	ClinVar
BMPR1A	P36894	p.Arg119Cys	RCV000805939	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899815C>T	ClinVar
BMPR1A	P36894	p.Arg119His	RCV000692600	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899816G>A	ClinVar
BMPR1A	P36894	p.Arg119His	RCV000579641	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899816G>A	ClinVar
BMPR1A	P36894	p.Arg119Cys	rs587782494	missense variant	-	NC_000010.11:g.86899815C>T	-
BMPR1A	P36894	p.Arg119His	rs1554888965	missense variant	-	NC_000010.11:g.86899816G>A	-
BMPR1A	P36894	p.Arg120Trp	rs779661827	missense variant	-	NC_000010.11:g.86899818C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg120Gln	rs1060503401	missense variant	-	NC_000010.11:g.86899819G>A	-
BMPR1A	P36894	p.Arg120Gln	RCV000467161	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899819G>A	ClinVar
BMPR1A	P36894	p.Arg120Gln	RCV000482494	missense variant	-	NC_000010.11:g.86899819G>A	ClinVar
BMPR1A	P36894	p.Thr121Ter	RCV000486207	frameshift	-	NC_000010.11:g.86899820del	ClinVar
BMPR1A	P36894	p.Thr121Ile	RCV000580329	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899822C>T	ClinVar
BMPR1A	P36894	p.Thr121Ile	rs1554888969	missense variant	-	NC_000010.11:g.86899822C>T	-
BMPR1A	P36894	p.Thr121Ter	RCV000493948	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899820del	ClinVar
BMPR1A	P36894	p.Ile122Val	rs1310807915	missense variant	-	NC_000010.11:g.86899824A>G	gnomAD
BMPR1A	P36894	p.Ile122Thr	rs1554888971	missense variant	-	NC_000010.11:g.86899825T>C	-
BMPR1A	P36894	p.Ile122Thr	RCV000548319	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899825T>C	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000494501	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899827del	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000635455	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899826_86899844del	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000115828	frameshift	-	NC_000010.11:g.86899829del	ClinVar
BMPR1A	P36894	p.Cys124Arg	rs199476087	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86899830T>C	-
BMPR1A	P36894	p.Cys124Tyr	rs587782388	missense variant	-	NC_000010.11:g.86899831G>A	-
BMPR1A	P36894	p.Cys124Arg	rs199476087	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt,dbSNP
BMPR1A	P36894	p.Cys124Arg	VAR_015533	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt
BMPR1A	P36894	p.Cys124Tyr	RCV000131396	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899831G>A	ClinVar
BMPR1A	P36894	p.Cys124Arg	RCV000165949	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899830T>C	ClinVar
BMPR1A	P36894	p.Cys125Ter	RCV000779036	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899834del	ClinVar
BMPR1A	P36894	p.Cys125Gly	rs1131691180	missense variant	-	NC_000010.11:g.86899833T>G	-
BMPR1A	P36894	p.Cys125Gly	RCV000493348	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899833T>G	ClinVar
BMPR1A	P36894	p.Arg126Pro	rs864622549	missense variant	-	NC_000010.11:g.86899837G>C	gnomAD
BMPR1A	P36894	p.Arg126Gly	rs781258592	missense variant	-	NC_000010.11:g.86899836C>G	ExAC,gnomAD
BMPR1A	P36894	p.Arg126Leu	RCV000206669	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>T	ClinVar
BMPR1A	P36894	p.Arg126Leu	RCV000236577	missense variant	-	NC_000010.11:g.86899837G>T	ClinVar
BMPR1A	P36894	p.Arg126Trp	RCV000575950	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>T	ClinVar
BMPR1A	P36894	p.Arg126Gly	RCV000197535	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899836C>G	ClinVar
BMPR1A	P36894	p.Arg126Gln	rs864622549	missense variant	-	NC_000010.11:g.86899837G>A	gnomAD
BMPR1A	P36894	p.Arg126Trp	rs781258592	missense variant	-	NC_000010.11:g.86899836C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg126Leu	rs864622549	missense variant	-	NC_000010.11:g.86899837G>T	gnomAD
BMPR1A	P36894	p.Arg126Gln	RCV000584220	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899837G>A	ClinVar
BMPR1A	P36894	p.Arg126Pro	RCV000635481	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>C	ClinVar
BMPR1A	P36894	p.Arg126Gln	RCV000691505	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>A	ClinVar
BMPR1A	P36894	p.Arg126Gly	RCV000563616	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	RCV000479183	missense variant	-	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	RCV000166089	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	rs375165807	missense variant	-	NC_000010.11:g.86899843A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn128Ser	RCV000469945	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Cys130Arg	RCV000493560	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899848T>C	ClinVar
BMPR1A	P36894	p.Cys130Ser	RCV000200107	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899849G>C	ClinVar
BMPR1A	P36894	p.Cys130Ser	rs863224720	missense variant	-	NC_000010.11:g.86899849G>C	-
BMPR1A	P36894	p.Cys130Arg	rs1131691168	missense variant	-	NC_000010.11:g.86899848T>C	-
BMPR1A	P36894	p.Cys130Arg	rs1131691168	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt,dbSNP
BMPR1A	P36894	p.Cys130Arg	VAR_022830	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt
BMPR1A	P36894	p.Asn131Lys	RCV000213228	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>A	ClinVar
BMPR1A	P36894	p.Asn131Lys	rs786202136	missense variant	-	NC_000010.11:g.86899853C>G	-
BMPR1A	P36894	p.Asn131Lys	rs786202136	missense variant	-	NC_000010.11:g.86899853C>A	-
BMPR1A	P36894	p.Asn131Lys	RCV000164797	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>G	ClinVar
BMPR1A	P36894	p.Gln135Arg	rs1344373156	missense variant	-	NC_000010.11:g.86899864A>G	gnomAD
BMPR1A	P36894	p.Pro136Leu	RCV000635469	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899867C>T	ClinVar
BMPR1A	P36894	p.Pro136Ter	RCV000214964	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899865dup	ClinVar
BMPR1A	P36894	p.Pro136Leu	rs1554888980	missense variant	-	NC_000010.11:g.86899867C>T	-
BMPR1A	P36894	p.Pro136Ter	RCV000473459	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899865dup	ClinVar
BMPR1A	P36894	p.Leu138Pro	rs767385418	missense variant	-	NC_000010.11:g.86899873T>C	ExAC,gnomAD
BMPR1A	P36894	p.Leu138Arg	rs767385418	missense variant	-	NC_000010.11:g.86899873T>G	ExAC,gnomAD
BMPR1A	P36894	p.Pro139Arg	RCV000583841	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899876C>G	ClinVar
BMPR1A	P36894	p.Pro139Arg	rs1554888987	missense variant	-	NC_000010.11:g.86899876C>G	-
BMPR1A	P36894	p.Pro139Ser	rs772163112	missense variant	-	NC_000010.11:g.86899875C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro139Ser	RCV000686458	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899875C>T	ClinVar
BMPR1A	P36894	p.Pro140Ter	RCV000635425	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899879del	ClinVar
BMPR1A	P36894	p.Pro140Ala	rs138478597	missense variant	-	NC_000010.11:g.86899878C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro140Leu	RCV000580587	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899879C>T	ClinVar
BMPR1A	P36894	p.Pro140Ser	rs138478597	missense variant	-	NC_000010.11:g.86899878C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro140Leu	rs1312138101	missense variant	-	NC_000010.11:g.86899879C>T	TOPMed
BMPR1A	P36894	p.Pro140Ser	RCV000581937	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Pro140Ser	RCV000526586	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Pro140Ala	RCV000473238	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>G	ClinVar
BMPR1A	P36894	p.Pro140Ser	RCV000506566	missense variant	-	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Val141Ile	rs1244692883	missense variant	-	NC_000010.11:g.86899881G>A	gnomAD
BMPR1A	P36894	p.Val141Ala	rs1442736321	missense variant	-	NC_000010.11:g.86899882T>C	gnomAD
BMPR1A	P36894	p.Val141Ter	RCV000164147	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899880del	ClinVar
BMPR1A	P36894	p.Val142Leu	RCV000689735	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899884G>C	ClinVar
BMPR1A	P36894	p.Ile143Leu	rs760739609	missense variant	-	NC_000010.11:g.86899887A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Leu	rs760739609	missense variant	-	NC_000010.11:g.86899887A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Val	RCV000574707	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>G	ClinVar
BMPR1A	P36894	p.Ile143Val	rs760739609	missense variant	-	NC_000010.11:g.86899887A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Leu	RCV000581072	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>C	ClinVar
BMPR1A	P36894	p.Gly144Arg	RCV000215661	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899890G>C	ClinVar
BMPR1A	P36894	p.Gly144Arg	rs876658573	missense variant	-	NC_000010.11:g.86899890G>C	-
BMPR1A	P36894	p.Pro145Leu	RCV000773372	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900030C>T	ClinVar
BMPR1A	P36894	p.Phe146Leu	RCV000687903	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900034T>G	ClinVar
BMPR1A	P36894	p.Phe146Ser	RCV000120254	missense variant	-	NC_000010.11:g.86900033T>C	ClinVar
BMPR1A	P36894	p.Phe146Ser	rs587778112	missense variant	-	NC_000010.11:g.86900033T>C	ExAC,gnomAD
BMPR1A	P36894	p.Phe146Val	rs1554889007	missense variant	-	NC_000010.11:g.86900032T>G	-
BMPR1A	P36894	p.Phe146Val	RCV000547539	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900032T>G	ClinVar
BMPR1A	P36894	p.Phe147Ser	rs371243894	missense variant	-	NC_000010.11:g.86900036T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Phe147Ser	RCV000572583	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900036T>C	ClinVar
BMPR1A	P36894	p.Phe147Ser	RCV000701918	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900036T>C	ClinVar
BMPR1A	P36894	p.Gly149Val	rs773689557	missense variant	-	NC_000010.11:g.86900042G>T	ExAC,gnomAD
BMPR1A	P36894	p.Ile151Thr	RCV000583785	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900048T>C	ClinVar
BMPR1A	P36894	p.Ile151Thr	rs1554889010	missense variant	-	NC_000010.11:g.86900048T>C	-
BMPR1A	P36894	p.Arg152Gly	RCV000574904	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>G	ClinVar
BMPR1A	P36894	p.Arg152Gln	RCV000635472	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900051G>A	ClinVar
BMPR1A	P36894	p.Arg152Gln	RCV000564920	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900051G>A	ClinVar
BMPR1A	P36894	p.Arg152Gly	rs1131691178	missense variant	-	NC_000010.11:g.86900050C>G	TOPMed
BMPR1A	P36894	p.Arg152Gln	rs567009904	missense variant	-	NC_000010.11:g.86900051G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg152Ter	rs1131691178	stop gained	-	NC_000010.11:g.86900050C>T	TOPMed
BMPR1A	P36894	p.Arg152Ter	RCV000494036	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>T	ClinVar
BMPR1A	P36894	p.Trp153Ter	RCV000493870	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900054G>A	ClinVar
BMPR1A	P36894	p.Trp153Ter	rs1131691176	stop gained	-	NC_000010.11:g.86900054G>A	-
BMPR1A	P36894	p.Leu157Arg	rs751260747	missense variant	-	NC_000010.11:g.86900066T>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile158Leu	RCV000691044	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900068A>C	ClinVar
BMPR1A	P36894	p.Ser159Pro	rs767157505	missense variant	-	NC_000010.11:g.86900071T>C	ExAC,gnomAD
BMPR1A	P36894	p.Ser159Pro	RCV000580150	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900071T>C	ClinVar
BMPR1A	P36894	p.Met160Val	rs145101532	missense variant	-	NC_000010.11:g.86900074A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met160Val	RCV000129348	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000656783	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000763676	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000205803	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000481297	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Ala161Thr	rs1443649142	missense variant	-	NC_000010.11:g.86900077G>A	gnomAD
BMPR1A	P36894	p.Ala161Ter	RCV000493050	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900077del	ClinVar
BMPR1A	P36894	p.Ile164Val	rs142965096	missense variant	-	NC_000010.11:g.86900086A>G	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Ile164Val	RCV000573874	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900086A>G	ClinVar
BMPR1A	P36894	p.Ile165Met	rs763934014	missense variant	-	NC_000010.11:g.86900091T>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile165Thr	rs1260484420	missense variant	-	NC_000010.11:g.86900090T>C	gnomAD
BMPR1A	P36894	p.Ala166Thr	RCV000635426	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900092G>A	ClinVar
BMPR1A	P36894	p.Ala166Thr	rs971636078	missense variant	-	NC_000010.11:g.86900092G>A	-
BMPR1A	P36894	p.Ala166Thr	RCV000772204	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900092G>A	ClinVar
BMPR1A	P36894	p.Met167Val	RCV000493778	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>G	ClinVar
BMPR1A	P36894	p.Met167Leu	RCV000761022	missense variant	Craniopharyngioma	NC_000010.11:g.86900095A>T	ClinVar
BMPR1A	P36894	p.Met167Val	rs200951235	missense variant	-	NC_000010.11:g.86900095A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met167Leu	rs200951235	missense variant	-	NC_000010.11:g.86900095A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met167Leu	RCV000166911	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>T	ClinVar
BMPR1A	P36894	p.Ile168Met	rs778615896	missense variant	-	NC_000010.11:g.86900100C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile168Met	RCV000165557	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900100C>G	ClinVar
BMPR1A	P36894	p.Ile169Phe	RCV000226965	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Ile169Phe	rs878854668	missense variant	-	NC_000010.11:g.86900101A>T	gnomAD
BMPR1A	P36894	p.Ile169Val	rs878854668	missense variant	-	NC_000010.11:g.86900101A>G	gnomAD
BMPR1A	P36894	p.Ile169Phe	RCV000236060	missense variant	-	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Ile169Phe	RCV000565550	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Phe170Pro	RCV000608762	insertion	-	NC_000010.11:g.86900102_86900103insTCC	ClinVar
BMPR1A	P36894	p.Phe170Cys	rs555873943	missense variant	-	NC_000010.11:g.86900105T>G	1000Genomes
BMPR1A	P36894	p.Ser171Pro	rs377733546	missense variant	-	NC_000010.11:g.86900107T>C	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Ser171Cys	rs781286980	missense variant	-	NC_000010.11:g.86900108C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ser171Phe	RCV000775831	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900108C>T	ClinVar
BMPR1A	P36894	p.Cys173Trp	rs863224721	missense variant	-	NC_000010.11:g.86900115C>G	-
BMPR1A	P36894	p.Cys173Trp	RCV000196338	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900115C>G	ClinVar
BMPR1A	P36894	p.Cys173Trp	RCV000573423	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900115C>G	ClinVar
BMPR1A	P36894	p.Cys175Tyr	RCV000635417	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>A	ClinVar
BMPR1A	P36894	p.Cys175Ser	RCV000688030	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>C	ClinVar
BMPR1A	P36894	p.Cys175Tyr	RCV000167415	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>A	ClinVar
BMPR1A	P36894	p.Cys175Ser	RCV000214413	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>C	ClinVar
BMPR1A	P36894	p.Cys175Ser	rs370091063	missense variant	-	NC_000010.11:g.86900120G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Cys175Tyr	rs370091063	missense variant	-	NC_000010.11:g.86900120G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr176His	RCV000772992	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900122T>C	ClinVar
BMPR1A	P36894	p.Tyr176Cys	RCV000635460	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900123A>G	ClinVar
BMPR1A	P36894	p.Tyr176Cys	rs1554889024	missense variant	-	NC_000010.11:g.86900123A>G	-
BMPR1A	P36894	p.Tyr176Ter	rs770387084	stop gained	-	NC_000010.11:g.86900124C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys181Arg	rs1446889676	missense variant	-	NC_000010.11:g.86912251A>G	TOPMed
BMPR1A	P36894	p.Ser182Asn	rs1341015567	missense variant	-	NC_000010.11:g.86912254G>A	gnomAD
BMPR1A	P36894	p.Ser184Leu	RCV000635438	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912260C>T	ClinVar
BMPR1A	P36894	p.Ser184Ter	RCV000494378	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912260C>G	ClinVar
BMPR1A	P36894	p.Ser185Cys	rs1554890203	missense variant	-	NC_000010.11:g.86912262A>T	-
BMPR1A	P36894	p.Ser185Cys	RCV000564854	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912262A>T	ClinVar
BMPR1A	P36894	p.Arg187Cys	RCV000458724	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912268C>T	ClinVar
BMPR1A	P36894	p.Arg187Cys	RCV000130928	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912268C>T	ClinVar
BMPR1A	P36894	p.Arg187His	RCV000479869	missense variant	-	NC_000010.11:g.86912269G>A	ClinVar
BMPR1A	P36894	p.Arg187His	rs189059377	missense variant	-	NC_000010.11:g.86912269G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg187Cys	rs587782231	missense variant	-	NC_000010.11:g.86912268C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg188Cys	rs879254272	missense variant	-	NC_000010.11:g.86912271C>T	gnomAD
BMPR1A	P36894	p.Arg188Cys	RCV000491978	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912271C>T	ClinVar
BMPR1A	P36894	p.Arg188His	rs749780872	missense variant	-	NC_000010.11:g.86912272G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg188His	RCV000206361	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912272G>A	ClinVar
BMPR1A	P36894	p.Arg188His	RCV000221059	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912272G>A	ClinVar
BMPR1A	P36894	p.Tyr189Ter	RCV000554511	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912276C>A	ClinVar
BMPR1A	P36894	p.Tyr189Ter	RCV000692187	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912275dup	ClinVar
BMPR1A	P36894	p.Tyr189His	RCV000777557	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912274T>C	ClinVar
BMPR1A	P36894	p.Tyr189His	RCV000805843	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912274T>C	ClinVar
BMPR1A	P36894	p.Tyr189Ter	rs1554890213	stop gained	-	NC_000010.11:g.86912276C>A	-
BMPR1A	P36894	p.Asn190Ser	RCV000123225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912278A>G	ClinVar
BMPR1A	P36894	p.Asn190Ser	RCV000167437	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912278A>G	ClinVar
BMPR1A	P36894	p.Asn190Ser	rs574229174	missense variant	-	NC_000010.11:g.86912278A>G	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Asn190Ile	rs574229174	missense variant	-	NC_000010.11:g.86912278A>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Asn190Asp	rs771444196	missense variant	-	NC_000010.11:g.86912277A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg191Cys	RCV000580053	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912280C>T	ClinVar
BMPR1A	P36894	p.Arg191Cys	rs1053423400	missense variant	-	NC_000010.11:g.86912280C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg191His	rs746231785	missense variant	-	NC_000010.11:g.86912281G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg191Cys	RCV000635416	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912280C>T	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000482512	missense variant	-	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000573990	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000543581	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Leu193Phe	RCV000457968	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912288G>C	ClinVar
BMPR1A	P36894	p.Leu193Ter	RCV000532814	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912287dup	ClinVar
BMPR1A	P36894	p.Leu193Phe	rs1060503404	missense variant	-	NC_000010.11:g.86912288G>C	-
BMPR1A	P36894	p.Gln195Leu	rs775295628	missense variant	-	NC_000010.11:g.86912293A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Arg	rs775295628	missense variant	-	NC_000010.11:g.86912293A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Lys	RCV000586948	missense variant	-	NC_000010.11:g.86912292C>A	ClinVar
BMPR1A	P36894	p.Gln195Lys	rs771910503	missense variant	-	NC_000010.11:g.86912292C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Lys	RCV000206242	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912292C>A	ClinVar
BMPR1A	P36894	p.Gln195Arg	RCV000575488	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912293A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000484852	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000473381	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	rs141608069	missense variant	-	NC_000010.11:g.86912296A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp196Gly	RCV000777241	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000766536	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Glu197Ala	rs763548019	missense variant	-	NC_000010.11:g.86912299A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ala198Glu	rs776160961	missense variant	-	NC_000010.11:g.86912302C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala198Val	RCV000777614	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912302C>T	ClinVar
BMPR1A	P36894	p.Phe199Ile	rs1297422277	missense variant	-	NC_000010.11:g.86912304T>A	gnomAD
BMPR1A	P36894	p.Val202Ala	rs879254158	missense variant	-	NC_000010.11:g.86912314T>C	-
BMPR1A	P36894	p.Val202Ala	RCV000235959	missense variant	-	NC_000010.11:g.86912314T>C	ClinVar
BMPR1A	P36894	p.Val202Phe	rs878854670	missense variant	-	NC_000010.11:g.86912313G>T	-
BMPR1A	P36894	p.Val202Phe	RCV000227718	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912313G>T	ClinVar
BMPR1A	P36894	p.Gly203Glu	rs587782748	missense variant	-	NC_000010.11:g.86912317G>A	gnomAD
BMPR1A	P36894	p.Gly203Glu	RCV000132254	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912317G>A	ClinVar
BMPR1A	P36894	p.Leu206Val	RCV000479389	missense variant	-	NC_000010.11:g.86912325C>G	ClinVar
BMPR1A	P36894	p.Leu206Val	rs1064793512	missense variant	-	NC_000010.11:g.86912325C>G	-
BMPR1A	P36894	p.Lys207Arg	RCV000507885	missense variant	-	NC_000010.11:g.86912329A>G	ClinVar
BMPR1A	P36894	p.Lys207Arg	rs1554890228	missense variant	-	NC_000010.11:g.86912329A>G	-
BMPR1A	P36894	p.Leu209Phe	rs1334589004	missense variant	-	NC_000010.11:g.86912334C>T	gnomAD
BMPR1A	P36894	p.Ile210Thr	rs730881432	missense variant	-	NC_000010.11:g.86912338T>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile210Val	rs750274275	missense variant	-	NC_000010.11:g.86912337A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile210Val	RCV000562215	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912337A>G	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000159836	missense variant	-	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000772717	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000796745	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Gln212Lys	RCV000635471	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln212Glu	rs876658138	missense variant	-	NC_000010.11:g.86912343C>G	TOPMed,gnomAD
BMPR1A	P36894	p.Gln212Lys	rs876658138	missense variant	-	NC_000010.11:g.86912343C>A	TOPMed,gnomAD
BMPR1A	P36894	p.Gln212Lys	RCV000217755	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln212Lys	RCV000480249	missense variant	-	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln214Lys	RCV000582831	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912349C>A	ClinVar
BMPR1A	P36894	p.Gln214Lys	rs1305429176	missense variant	-	NC_000010.11:g.86912349C>A	gnomAD
BMPR1A	P36894	p.Gln214Lys	RCV000691450	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912349C>A	ClinVar
BMPR1A	P36894	p.Ser215Asn	RCV000575085	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912353G>A	ClinVar
BMPR1A	P36894	p.Ser215Asn	rs1554890233	missense variant	-	NC_000010.11:g.86912353G>A	-
BMPR1A	P36894	p.Gly217Cys	rs766093107	missense variant	-	NC_000010.11:g.86912358G>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Thr	rs752893921	missense variant	-	NC_000010.11:g.86912362G>C	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Asn	rs752893921	missense variant	-	NC_000010.11:g.86912362G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Gly	RCV000700647	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912361A>G	ClinVar
BMPR1A	P36894	p.Gly219Glu	rs878854671	missense variant	-	NC_000010.11:g.86912365G>A	-
BMPR1A	P36894	p.Gly219Glu	RCV000230480	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912365G>A	ClinVar
BMPR1A	P36894	p.Gly221Glu	RCV000776724	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912371G>A	ClinVar
BMPR1A	P36894	p.Leu224Ile	rs756310331	missense variant	-	NC_000010.11:g.86912379T>A	ExAC,gnomAD
BMPR1A	P36894	p.Leu225Ter	RCV000693404	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912383del	ClinVar
BMPR1A	P36894	p.Val226Ile	RCV000777011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>A	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000123228	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000515164	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000656784	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000115829	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000561750	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	rs587780110	missense variant	-	NC_000010.11:g.86917134G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg228Gln	rs747371306	missense variant	-	NC_000010.11:g.86917141G>A	ExAC,gnomAD
BMPR1A	P36894	p.Arg228Ter	RCV000132109	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917140C>T	ClinVar
BMPR1A	P36894	p.Arg228Ter	RCV000475579	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917140C>T	ClinVar
BMPR1A	P36894	p.Arg228Ter	rs587782682	stop gained	-	NC_000010.11:g.86917140C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile230Val	RCV000159837	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
BMPR1A	P36894	p.Ile230Val	rs730881433	missense variant	-	NC_000010.11:g.86917146A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile230Val	RCV000779845	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
BMPR1A	P36894	p.Ala231Thr	rs1161175030	missense variant	-	NC_000010.11:g.86917149G>A	gnomAD
BMPR1A	P36894	p.Lys232Arg	rs587781341	missense variant	-	NC_000010.11:g.86917153A>G	gnomAD
BMPR1A	P36894	p.Lys232Arg	RCV000129114	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917153A>G	ClinVar
BMPR1A	P36894	p.Lys232Glu	RCV000773688	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917152A>G	ClinVar
BMPR1A	P36894	p.Gln233Ter	RCV000522325	nonsense	-	NC_000010.11:g.86917155C>T	ClinVar
BMPR1A	P36894	p.Gln233Ter	rs1554890743	stop gained	-	NC_000010.11:g.86917155C>T	-
BMPR1A	P36894	p.Gln235Glu	RCV000635419	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917161C>G	ClinVar
BMPR1A	P36894	p.Gln235Glu	rs1554890745	missense variant	-	NC_000010.11:g.86917161C>G	-
BMPR1A	P36894	p.Met236Ile	RCV000695522	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917166G>A	ClinVar
BMPR1A	P36894	p.Met236Thr	rs1347027954	missense variant	-	NC_000010.11:g.86917165T>C	gnomAD
BMPR1A	P36894	p.Met236Val	rs1303164661	missense variant	-	NC_000010.11:g.86917164A>G	gnomAD
BMPR1A	P36894	p.Met236Thr	RCV000584676	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917165T>C	ClinVar
BMPR1A	P36894	p.Arg238Gln	RCV000236672	missense variant	-	NC_000010.11:g.86917171G>A	ClinVar
BMPR1A	P36894	p.Arg238Gln	RCV000129721	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917171G>A	ClinVar
BMPR1A	P36894	p.Arg238Gly	rs747728399	missense variant	-	NC_000010.11:g.86917170C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Gln	rs191742018	missense variant	-	NC_000010.11:g.86917171G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Trp	RCV000564877	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>T	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000520400	missense variant	-	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000557396	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Arg238Trp	rs747728399	missense variant	-	NC_000010.11:g.86917170C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Trp	RCV000635447	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>T	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000581103	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Gln239Lys	RCV000583131	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917173C>A	ClinVar
BMPR1A	P36894	p.Gln239Ter	RCV000008713	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917173C>T	ClinVar
BMPR1A	P36894	p.Val240Ile	RCV000470969	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917176G>A	ClinVar
BMPR1A	P36894	p.Val240Ile	rs1060503405	missense variant	-	NC_000010.11:g.86917176G>A	gnomAD
BMPR1A	P36894	p.Gly241Asp	rs1554890758	missense variant	-	NC_000010.11:g.86917180G>A	-
BMPR1A	P36894	p.Gly241Asp	RCV000560943	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917180G>A	ClinVar
BMPR1A	P36894	p.Gly241Ser	rs1226033707	missense variant	-	NC_000010.11:g.86917179G>A	gnomAD
BMPR1A	P36894	p.Gly241Ser	RCV000566364	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917179G>A	ClinVar
BMPR1A	P36894	p.Lys242Arg	rs762926637	missense variant	-	NC_000010.11:g.86917183A>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys242Arg	RCV000580544	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917183A>G	ClinVar
BMPR1A	P36894	p.Arg244Ter	rs759363072	stop gained	-	NC_000010.11:g.86917188C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gly	rs759363072	missense variant	-	NC_000010.11:g.86917188C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gln	RCV000472993	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189G>A	ClinVar
BMPR1A	P36894	p.Arg244Gln	rs147971049	missense variant	-	NC_000010.11:g.86917189G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Ter	RCV000686857	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000850053	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000481831	nonsense	-	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Arg244Gln	RCV000567827	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917189G>A	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000231232	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Tyr245Asn	rs369012159	missense variant	-	NC_000010.11:g.86917191T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr245Ter	RCV000635449	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189dup	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000589200	missense variant	-	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Tyr245Ter	rs1131691182	stop gained	-	NC_000010.11:g.86917193T>G	-
BMPR1A	P36894	p.Tyr245Ter	RCV000494258	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917193T>G	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000130665	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Met250Ile	RCV000758778	missense variant	-	NC_000010.11:g.86917208G>A	ClinVar
BMPR1A	P36894	p.Met250Leu	rs762087997	missense variant	-	NC_000010.11:g.86917206A>T	ExAC,gnomAD
BMPR1A	P36894	p.Met250Thr	RCV000586264	missense variant	-	NC_000010.11:g.86917207T>C	ClinVar
BMPR1A	P36894	p.Met250Thr	rs587780783	missense variant	-	NC_000010.11:g.86917207T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly251Asp	RCV000573680	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917210G>A	ClinVar
BMPR1A	P36894	p.Gly251Cys	RCV000545911	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Gly251Cys	rs750513716	missense variant	-	NC_000010.11:g.86917209G>T	ExAC,gnomAD
BMPR1A	P36894	p.Gly251Asp	rs1554890768	missense variant	-	NC_000010.11:g.86917210G>A	-
BMPR1A	P36894	p.Gly251Cys	RCV000587600	missense variant	-	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Gly251Cys	RCV000569001	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Lys252Arg	RCV000635454	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917213A>G	ClinVar
BMPR1A	P36894	p.Lys252Arg	rs1554890769	missense variant	-	NC_000010.11:g.86917213A>G	-
BMPR1A	P36894	p.Arg254Cys	RCV000200056	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Cys	RCV000515265	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Cys	RCV000484680	missense variant	-	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Leu	RCV000218230	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>T	ClinVar
BMPR1A	P36894	p.Arg254Leu	rs766908700	missense variant	-	NC_000010.11:g.86917219G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Pro	rs766908700	missense variant	-	NC_000010.11:g.86917219G>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254His	rs766908700	missense variant	-	NC_000010.11:g.86917219G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Cys	rs587782578	missense variant	-	NC_000010.11:g.86917218C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Pro	RCV000569876	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>C	ClinVar
BMPR1A	P36894	p.Arg254His	RCV000461599	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917219G>A	ClinVar
BMPR1A	P36894	p.Glu256Lys	rs755372473	missense variant	-	NC_000010.11:g.86917224G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys257Glu	rs1554890784	missense variant	-	NC_000010.11:g.86917227A>G	-
BMPR1A	P36894	p.Lys257Glu	RCV000575124	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917227A>G	ClinVar
BMPR1A	P36894	p.Val258Ter	RCV000227192	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917229del	ClinVar
BMPR1A	P36894	p.Ala259Val	rs905457708	missense variant	-	NC_000010.11:g.86917234C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Ala259Val	RCV000576012	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917234C>T	ClinVar
BMPR1A	P36894	p.Ala259Val	RCV000587159	missense variant	-	NC_000010.11:g.86917234C>T	ClinVar
BMPR1A	P36894	p.Val260Gly	rs755740570	missense variant	-	NC_000010.11:g.86917237T>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys261Glu	rs777305118	missense variant	-	NC_000010.11:g.86917239A>G	ExAC,gnomAD
BMPR1A	P36894	p.Val262Glu	rs770830310	missense variant	-	NC_000010.11:g.86917243T>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Ala	rs770830310	missense variant	-	NC_000010.11:g.86917243T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Ala	RCV000466256	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Val262Gly	rs770830310	missense variant	-	NC_000010.11:g.86917243T>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Ile	rs748790017	missense variant	-	NC_000010.11:g.86917242G>A	ExAC,TOPMed
BMPR1A	P36894	p.Val262Ala	RCV000679550	missense variant	-	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Val262Ala	RCV000573612	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Phe264Ser	rs775377247	missense variant	-	NC_000010.11:g.86917249T>C	ExAC,gnomAD
BMPR1A	P36894	p.Thr265Ile	RCV000483613	missense variant	-	NC_000010.11:g.86917252C>T	ClinVar
BMPR1A	P36894	p.Thr265Ile	rs1064793937	missense variant	-	NC_000010.11:g.86917252C>T	-
BMPR1A	P36894	p.Thr266Ser	RCV000567379	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917255C>G	ClinVar
BMPR1A	P36894	p.Thr266Ser	rs1554890797	missense variant	-	NC_000010.11:g.86917255C>G	-
BMPR1A	P36894	p.Thr266Ala	rs1273972467	missense variant	-	NC_000010.11:g.86917254A>G	gnomAD
BMPR1A	P36894	p.Trp271Ter	rs199476085	stop gained	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917270G>A	-
BMPR1A	P36894	p.Trp271Ter	RCV000008714	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917270G>A	ClinVar
BMPR1A	P36894	p.Arg273Gln	rs762178061	missense variant	-	NC_000010.11:g.86917276G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg273Ter	RCV000131433	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Arg273Ter	RCV000482559	nonsense	-	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Arg273Ter	RCV000229057	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Arg273Ter	rs587782400	stop gained	-	NC_000010.11:g.86917275C>T	-
BMPR1A	P36894	p.Glu276Ter	RCV000705148	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917284_86917285del	ClinVar
BMPR1A	P36894	p.Glu276Ter	RCV000130286	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917284_86917285del	ClinVar
BMPR1A	P36894	p.Ile277Val	RCV000460344	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917287A>G	ClinVar
BMPR1A	P36894	p.Ile277Val	rs1060503400	missense variant	-	NC_000010.11:g.86917287A>G	-
BMPR1A	P36894	p.Tyr278Ter	RCV000560723	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917292C>A	ClinVar
BMPR1A	P36894	p.Tyr278Ter	rs1230919713	stop gained	-	NC_000010.11:g.86917292C>A	gnomAD
BMPR1A	P36894	p.Gln279Pro	rs1469597503	missense variant	-	NC_000010.11:g.86917294A>C	gnomAD
BMPR1A	P36894	p.Thr280Ser	RCV000812306	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917297C>G	ClinVar
BMPR1A	P36894	p.Thr280Ser	rs1064793497	missense variant	-	NC_000010.11:g.86917297C>G	gnomAD
BMPR1A	P36894	p.Thr280Ser	RCV000485913	missense variant	-	NC_000010.11:g.86917297C>G	ClinVar
BMPR1A	P36894	p.Val281Met	rs141625907	missense variant	-	NC_000010.11:g.86917299G>A	ESP
BMPR1A	P36894	p.Val281Met	RCV000493216	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917299G>A	ClinVar
BMPR1A	P36894	p.Leu282Pro	rs1386615932	missense variant	-	NC_000010.11:g.86917303T>C	gnomAD
BMPR1A	P36894	p.Met283Ter	RCV000686579	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917305dup	ClinVar
BMPR1A	P36894	p.Arg284Cys	rs765530074	missense variant	-	NC_000010.11:g.86917308C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg284Gly	rs765530074	missense variant	-	NC_000010.11:g.86917308C>G	ExAC,gnomAD
BMPR1A	P36894	p.Arg284Cys	RCV000230699	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917308C>T	ClinVar
BMPR1A	P36894	p.Arg284Cys	RCV000771718	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917308C>T	ClinVar
BMPR1A	P36894	p.His285Asn	rs1162302623	missense variant	-	NC_000010.11:g.86917311C>A	gnomAD
BMPR1A	P36894	p.Asn287Tyr	rs763135904	missense variant	-	NC_000010.11:g.86917317A>T	ExAC,gnomAD
BMPR1A	P36894	p.Ile288Met	RCV000708675	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917322A>G	ClinVar
BMPR1A	P36894	p.Leu289Ter	RCV000635448	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917322dup	ClinVar
BMPR1A	P36894	p.Gly290Ala	rs876660596	missense variant	-	NC_000010.11:g.86919172G>C	-
BMPR1A	P36894	p.Gly290Ala	RCV000815608	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919172G>C	ClinVar
BMPR1A	P36894	p.Gly290Ala	RCV000213715	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919172G>C	ClinVar
BMPR1A	P36894	p.Ile292Ter	RCV000567580	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919177dup	ClinVar
BMPR1A	P36894	p.Ile292Val	rs746800007	missense variant	-	NC_000010.11:g.86919177A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp295GlySerTerArgUnk	rs876659988	stop gained	-	NC_000010.11:g.86919187delinsGTTCATAGCGG	-
BMPR1A	P36894	p.Asp295GlySerTer	RCV000222176	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919187delinsGTTCATAGCGG	ClinVar
BMPR1A	P36894	p.Ile296Val	RCV000527955	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919189A>G	ClinVar
BMPR1A	P36894	p.Ile296Val	rs1554891019	missense variant	-	NC_000010.11:g.86919189A>G	-
BMPR1A	P36894	p.Ile296Thr	rs1554891022	missense variant	-	NC_000010.11:g.86919190T>C	-
BMPR1A	P36894	p.Ile296Thr	RCV000635478	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919190T>C	ClinVar
BMPR1A	P36894	p.Gly298Ser	RCV000758780	missense variant	-	NC_000010.11:g.86919195G>A	ClinVar
BMPR1A	P36894	p.Thr299Ala	rs876660756	missense variant	-	NC_000010.11:g.86919198A>G	-
BMPR1A	P36894	p.Thr299Arg	RCV000581360	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919199C>G	ClinVar
BMPR1A	P36894	p.Thr299Arg	rs1219651963	missense variant	-	NC_000010.11:g.86919199C>G	TOPMed
BMPR1A	P36894	p.Thr299Lys	rs1219651963	missense variant	-	NC_000010.11:g.86919199C>A	TOPMed
BMPR1A	P36894	p.Thr299Ala	RCV000221198	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919198A>G	ClinVar
BMPR1A	P36894	p.Gly300Arg	rs763040797	missense variant	-	NC_000010.11:g.86919201G>C	ExAC,gnomAD
BMPR1A	P36894	p.Gly300Ser	rs763040797	missense variant	-	NC_000010.11:g.86919201G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ser301Thr	rs983870066	missense variant	-	NC_000010.11:g.86919204T>A	TOPMed
BMPR1A	P36894	p.Ser301Tyr	rs876660939	missense variant	-	NC_000010.11:g.86919205C>A	TOPMed,gnomAD
BMPR1A	P36894	p.Ser301Tyr	RCV000533725	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919205C>A	ClinVar
BMPR1A	P36894	p.Ser301Tyr	RCV000217554	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919205C>A	ClinVar
BMPR1A	P36894	p.Thr303Ala	RCV000582620	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919210A>G	ClinVar
BMPR1A	P36894	p.Thr303Ala	RCV000796584	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919210A>G	ClinVar
BMPR1A	P36894	p.Thr303Ala	rs1554891025	missense variant	-	NC_000010.11:g.86919210A>G	-
BMPR1A	P36894	p.Gln304Ter	rs1404557708	stop gained	-	NC_000010.11:g.86919213C>T	gnomAD
BMPR1A	P36894	p.Gln304Lys	RCV000548904	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>A	ClinVar
BMPR1A	P36894	p.Gln304Arg	RCV000159838	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Arg	RCV000411865	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Arg	rs730881434	missense variant	-	NC_000010.11:g.86919214A>G	ExAC,gnomAD
BMPR1A	P36894	p.Gln304Lys	rs1404557708	missense variant	-	NC_000010.11:g.86919213C>A	gnomAD
BMPR1A	P36894	p.Gln304Ter	RCV000635424	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>T	ClinVar
BMPR1A	P36894	p.Gln304Arg	RCV000766554	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Leu305Arg	rs1453306253	missense variant	-	NC_000010.11:g.86919217T>G	gnomAD
BMPR1A	P36894	p.Tyr306Cys	RCV000464837	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220A>G	ClinVar
BMPR1A	P36894	p.Tyr306Cys	rs955604329	missense variant	-	NC_000010.11:g.86919220A>G	gnomAD
BMPR1A	P36894	p.Ile308Ter	RCV000459435	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220_86919223dup	ClinVar
BMPR1A	P36894	p.Thr309Ser	RCV000583398	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919229C>G	ClinVar
BMPR1A	P36894	p.Thr309Ser	rs1276976514	missense variant	-	NC_000010.11:g.86919229C>G	TOPMed
BMPR1A	P36894	p.His312Tyr	rs1437385150	missense variant	-	NC_000010.11:g.86919237C>T	TOPMed
BMPR1A	P36894	p.His312Ter	RCV000466694	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919237del	ClinVar
BMPR1A	P36894	p.Asn314Ser	RCV000694892	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919244A>G	ClinVar
BMPR1A	P36894	p.Asn314Ser	RCV000758781	missense variant	-	NC_000010.11:g.86919244A>G	ClinVar
BMPR1A	P36894	p.Gly315Arg	RCV000463009	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Gly315Arg	rs730881435	missense variant	-	NC_000010.11:g.86919246G>A	gnomAD
BMPR1A	P36894	p.Gly315Ter	rs730881435	stop gained	-	NC_000010.11:g.86919246G>T	gnomAD
BMPR1A	P36894	p.Gly315Arg	RCV000159839	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Gly315Arg	RCV000235117	missense variant	-	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Ser316Thr	RCV000635452	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919249T>A	ClinVar
BMPR1A	P36894	p.Ser316Thr	rs1554891039	missense variant	-	NC_000010.11:g.86919249T>A	-
BMPR1A	P36894	p.Tyr318Ser	rs587778111	missense variant	-	NC_000010.11:g.86919256A>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr318Ser	RCV000775810	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>C	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000410175	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Ser	RCV000462820	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>C	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000567105	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000656785	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000120250	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Cys	rs587778111	missense variant	-	NC_000010.11:g.86919256A>G	ExAC,gnomAD
BMPR1A	P36894	p.Phe320Ter	RCV000527295	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919260dup	ClinVar
BMPR1A	P36894	p.Phe320Ter	RCV000563459	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919264del	ClinVar
BMPR1A	P36894	p.Lys322Ter	RCV000492964	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919267A>T	ClinVar
BMPR1A	P36894	p.Lys322Ter	rs1131691167	stop gained	-	NC_000010.11:g.86919267A>T	gnomAD
BMPR1A	P36894	p.Lys322Gln	rs1131691167	missense variant	-	NC_000010.11:g.86919267A>C	gnomAD
BMPR1A	P36894	p.Cys323Arg	RCV000570171	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>C	ClinVar
BMPR1A	P36894	p.Cys323Tyr	rs187780646	missense variant	-	NC_000010.11:g.86919271G>A	1000Genomes,ExAC
BMPR1A	P36894	p.Cys323Ser	rs876660750	missense variant	-	NC_000010.11:g.86919270T>A	-
BMPR1A	P36894	p.Cys323Arg	RCV000457915	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919270T>C	ClinVar
BMPR1A	P36894	p.Cys323Arg	rs876660750	missense variant	-	NC_000010.11:g.86919270T>C	-
BMPR1A	P36894	p.Cys323Ser	RCV000216595	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>A	ClinVar
BMPR1A	P36894	p.Thr325Ala	RCV000541894	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919276A>G	ClinVar
BMPR1A	P36894	p.Thr325Ala	RCV000777203	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919276A>G	ClinVar
BMPR1A	P36894	p.Thr325Ala	rs1554891047	missense variant	-	NC_000010.11:g.86919276A>G	-
BMPR1A	P36894	p.Leu326Val	RCV000582761	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919279C>G	ClinVar
BMPR1A	P36894	p.Leu326Val	rs1554891050	missense variant	-	NC_000010.11:g.86919279C>G	-
BMPR1A	P36894	p.Asp327Gly	rs764376409	missense variant	-	NC_000010.11:g.86919283A>G	ExAC,gnomAD
BMPR1A	P36894	p.Thr328Ser	RCV000526492	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919286C>G	ClinVar
BMPR1A	P36894	p.Thr328Ser	rs1554891053	missense variant	-	NC_000010.11:g.86919286C>G	-
BMPR1A	P36894	p.Arg329Thr	RCV000541085	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919289G>C	ClinVar
BMPR1A	P36894	p.Arg329Lys	RCV000779840	missense variant	-	NC_000010.11:g.86919289G>A	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000465582	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Thr	rs1554891054	missense variant	-	NC_000010.11:g.86919289G>C	-
BMPR1A	P36894	p.Arg329Ser	rs753521037	missense variant	-	NC_000010.11:g.86919290A>C	ExAC,gnomAD
BMPR1A	P36894	p.Arg329Ser	RCV000561962	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000588080	missense variant	-	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Ter	RCV000657424	frameshift	-	NC_000010.11:g.86919290_86919295delinsTGTA	ClinVar
BMPR1A	P36894	p.Ala330Thr	RCV000456972	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919291G>A	ClinVar
BMPR1A	P36894	p.Ala330Val	rs587782092	missense variant	-	NC_000010.11:g.86919292C>T	gnomAD
BMPR1A	P36894	p.Ala330Thr	rs927151124	missense variant	-	NC_000010.11:g.86919291G>A	TOPMed
BMPR1A	P36894	p.Ala330Val	RCV000130601	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919292C>T	ClinVar
BMPR1A	P36894	p.Leu331Val	rs1554891064	missense variant	-	NC_000010.11:g.86919294C>G	-
BMPR1A	P36894	p.Leu331Val	RCV000580998	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919294C>G	ClinVar
BMPR1A	P36894	p.Leu332Pro	RCV000584023	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919298T>C	ClinVar
BMPR1A	P36894	p.Leu332Pro	rs1064793886	missense variant	-	NC_000010.11:g.86919298T>C	gnomAD
BMPR1A	P36894	p.Leu332Pro	RCV000484515	missense variant	-	NC_000010.11:g.86919298T>C	ClinVar
BMPR1A	P36894	p.Lys333Asn	rs1480528360	missense variant	-	NC_000010.11:g.86919302A>T	TOPMed,gnomAD
BMPR1A	P36894	p.Leu334Ser	rs915929375	missense variant	-	NC_000010.11:g.86919304T>C	TOPMed
BMPR1A	P36894	p.Leu334Met	rs749873461	missense variant	-	NC_000010.11:g.86919303T>A	ExAC,gnomAD
BMPR1A	P36894	p.Tyr336His	rs876658840	missense variant	-	NC_000010.11:g.86919309T>C	-
BMPR1A	P36894	p.Tyr336His	RCV000216334	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919309T>C	ClinVar
BMPR1A	P36894	p.Ser337Ter	RCV000569696	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>A	ClinVar
BMPR1A	P36894	p.Ser337Leu	RCV000582821	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>T	ClinVar
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>A	TOPMed
BMPR1A	P36894	p.Ala338Asp	RCV000566713	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919316C>A	ClinVar
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt,dbSNP
BMPR1A	P36894	p.Ala338Asp	VAR_015534	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt
BMPR1A	P36894	p.Ala338Val	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>T	TOPMed
BMPR1A	P36894	p.Ala339Thr	rs758432395	missense variant	-	NC_000010.11:g.86919318G>A	ExAC,gnomAD
BMPR1A	P36894	p.Gly341Ser	RCV000562882	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>A	ClinVar
BMPR1A	P36894	p.Gly341Asp	RCV000703322	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919325G>A	ClinVar
BMPR1A	P36894	p.Gly341Cys	rs1554891077	missense variant	-	NC_000010.11:g.86919324G>T	-
BMPR1A	P36894	p.Gly341Cys	RCV000564091	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>T	ClinVar
BMPR1A	P36894	p.Gly341Ser	rs1554891077	missense variant	-	NC_000010.11:g.86919324G>A	-
BMPR1A	P36894	p.His346Arg	RCV000131740	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919340A>G	ClinVar
BMPR1A	P36894	p.His346Arg	rs587782536	missense variant	-	NC_000010.11:g.86919340A>G	-
BMPR1A	P36894	p.Glu348Gln	RCV000472607	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919345G>C	ClinVar
BMPR1A	P36894	p.Glu348Asp	rs781082609	missense variant	-	NC_000010.11:g.86919347A>C	ExAC,gnomAD
BMPR1A	P36894	p.Glu348Gln	rs1060503398	missense variant	-	NC_000010.11:g.86919345G>C	-
BMPR1A	P36894	p.Glu348Asp	rs781082609	missense variant	-	NC_000010.11:g.86919347A>T	ExAC,gnomAD
BMPR1A	P36894	p.Glu348Asp	RCV000579475	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919347A>C	ClinVar
BMPR1A	P36894	p.Glu348Asp	RCV000548785	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919347A>T	ClinVar
BMPR1A	P36894	p.Tyr350His	rs749571434	missense variant	-	NC_000010.11:g.86919351T>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr350His	RCV000575787	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Tyr350His	RCV000820356	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Tyr350His	RCV000759474	missense variant	-	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Gln353Arg	RCV000527621	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919361A>G	ClinVar
BMPR1A	P36894	p.Gln353Arg	RCV000580162	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361A>G	ClinVar
BMPR1A	P36894	p.Gln353Arg	rs1405441693	missense variant	-	NC_000010.11:g.86919361A>G	TOPMed
BMPR1A	P36894	p.Gly354Ter	RCV000493671	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361_86919362dup	ClinVar
BMPR1A	P36894	p.Gly354Ala	rs1406950391	missense variant	-	NC_000010.11:g.86919364G>C	gnomAD
BMPR1A	P36894	p.Gly354Ter	RCV000569032	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919364del	ClinVar
BMPR1A	P36894	p.Lys355Ter	RCV000776619	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919368del	ClinVar
BMPR1A	P36894	p.Pro356Ser	rs774555805	missense variant	-	NC_000010.11:g.86919369C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro356Ser	RCV000572363	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919369C>T	ClinVar
BMPR1A	P36894	p.Ala357Ser	rs201509164	missense variant	-	NC_000010.11:g.86919372G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala357Thr	rs201509164	missense variant	-	NC_000010.11:g.86919372G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala357Thr	RCV000478306	missense variant	-	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Ala357Thr	RCV000567914	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Ala357Thr	RCV000461013	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Arg361Ter	rs764466442	stop gained	-	NC_000010.11:g.86919384C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg361Gly	RCV000579633	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>G	ClinVar
BMPR1A	P36894	p.Arg361Gln	rs730881436	missense variant	-	NC_000010.11:g.86919385G>A	-
BMPR1A	P36894	p.Arg361Gly	rs764466442	missense variant	-	NC_000010.11:g.86919384C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg361Gln	RCV000530820	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000159840	missense variant	-	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000772718	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Ter	RCV000461272	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919384C>T	ClinVar
BMPR1A	P36894	p.Arg361Ter	RCV000162430	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>T	ClinVar
BMPR1A	P36894	p.Asp362Asn	RCV000693269	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919387G>A	ClinVar
BMPR1A	P36894	p.Asp362Asn	RCV000772196	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919387G>A	ClinVar
BMPR1A	P36894	p.Lys366Arg	RCV000773788	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919400A>G	ClinVar
BMPR1A	P36894	p.Lys366Asn	rs1060503397	missense variant	-	NC_000010.11:g.86919401A>C	-
BMPR1A	P36894	p.Lys366Asn	RCV000467828	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919401A>C	ClinVar
BMPR1A	P36894	p.Lys366Asn	RCV000759475	missense variant	-	NC_000010.11:g.86919401A>C	ClinVar
BMPR1A	P36894	p.Asn367Ter	RCV000563858	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919404del	ClinVar
BMPR1A	P36894	p.Lys371Thr	rs1490421596	missense variant	-	NC_000010.11:g.86919415A>C	gnomAD
BMPR1A	P36894	p.Lys372Glu	rs1315674155	missense variant	-	NC_000010.11:g.86919417A>G	TOPMed
BMPR1A	P36894	p.Asn373Ser	rs1281108621	missense variant	-	NC_000010.11:g.86919421A>G	TOPMed
BMPR1A	P36894	p.Cys376Trp	RCV000493424	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919431C>G	ClinVar
BMPR1A	P36894	p.Cys376Ser	RCV000772243	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919429T>A	ClinVar
BMPR1A	P36894	p.Cys376Trp	rs1131691177	missense variant	-	NC_000010.11:g.86919431C>G	-
BMPR1A	P36894	p.Cys376Tyr	rs199476088	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt,dbSNP
BMPR1A	P36894	p.Cys376Tyr	VAR_015535	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt
BMPR1A	P36894	p.Cys376Tyr	rs199476088	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919430G>A	-
BMPR1A	P36894	p.Cys376Tyr	RCV000008718	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	ClinVar
BMPR1A	P36894	p.Leu381Val	RCV000206145	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919444C>G	ClinVar
BMPR1A	P36894	p.Leu381Val	RCV000478590	missense variant	-	NC_000010.11:g.86919444C>G	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000779842	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000563011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	rs1060503396	missense variant	-	NC_000010.11:g.86919456G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Val385Ile	RCV000472543	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000759476	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Ser389Arg	RCV000696953	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921520T>G	ClinVar
BMPR1A	P36894	p.Ser389Asn	rs879254049	missense variant	-	NC_000010.11:g.86919469G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Ser389Ile	rs879254049	missense variant	-	NC_000010.11:g.86919469G>T	TOPMed,gnomAD
BMPR1A	P36894	p.Ser389Asn	RCV000236250	missense variant	-	NC_000010.11:g.86919469G>A	ClinVar
BMPR1A	P36894	p.Ser389Asn	RCV000477534	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>A	ClinVar
BMPR1A	P36894	p.Ser389Ile	RCV000565079	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919469G>T	ClinVar
BMPR1A	P36894	p.Ser389Ile	RCV000541560	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>T	ClinVar
BMPR1A	P36894	p.Asp390Asn	RCV000486499	missense variant	-	NC_000010.11:g.86921521G>A	ClinVar
BMPR1A	P36894	p.Asp390Asn	rs1064794827	missense variant	-	NC_000010.11:g.86921521G>A	-
BMPR1A	P36894	p.Thr391Ser	RCV000556248	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921524A>T	ClinVar
BMPR1A	P36894	p.Thr391Ser	rs1554891310	missense variant	-	NC_000010.11:g.86921524A>T	-
BMPR1A	P36894	p.Asn392Ser	rs1554891311	missense variant	-	NC_000010.11:g.86921528A>G	-
BMPR1A	P36894	p.Asn392Ser	RCV000583018	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921528A>G	ClinVar
BMPR1A	P36894	p.Asn392Ser	RCV000522509	missense variant	-	NC_000010.11:g.86921528A>G	ClinVar
BMPR1A	P36894	p.Val396Met	rs1161972977	missense variant	-	NC_000010.11:g.86921539G>A	gnomAD
BMPR1A	P36894	p.Pro397Leu	rs878854662	missense variant	-	NC_000010.11:g.86921543C>T	-
BMPR1A	P36894	p.Pro397Leu	RCV000228257	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921543C>T	ClinVar
BMPR1A	P36894	p.Pro397Arg	RCV000780964	missense variant	-	NC_000010.11:g.86921543C>G	ClinVar
BMPR1A	P36894	p.Asn399Ser	RCV000560017	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921549A>G	ClinVar
BMPR1A	P36894	p.Asn399Asp	RCV000563262	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921548A>G	ClinVar
BMPR1A	P36894	p.Asn399Asp	rs1554891313	missense variant	-	NC_000010.11:g.86921548A>G	-
BMPR1A	P36894	p.Asn399Ser	rs1554891315	missense variant	-	NC_000010.11:g.86921549A>G	-
BMPR1A	P36894	p.Thr400Asn	RCV000635453	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921552C>A	ClinVar
BMPR1A	P36894	p.Thr400Asn	rs1554891317	missense variant	-	NC_000010.11:g.86921552C>A	-
BMPR1A	P36894	p.Val402Gly	rs1298646773	missense variant	-	NC_000010.11:g.86921558T>G	gnomAD
BMPR1A	P36894	p.Val402Met	rs1462602717	missense variant	-	NC_000010.11:g.86921557G>A	gnomAD
BMPR1A	P36894	p.Lys405Arg	RCV000692348	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921567A>G	ClinVar
BMPR1A	P36894	p.Lys405Asn	RCV000590666	missense variant	-	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Asn	RCV000409039	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Asn	RCV000129512	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Asn	rs587781522	missense variant	-	NC_000010.11:g.86921568A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys405Arg	rs1064795593	missense variant	-	NC_000010.11:g.86921567A>G	-
BMPR1A	P36894	p.Lys405Arg	RCV000483970	missense variant	-	NC_000010.11:g.86921567A>G	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000519920	missense variant	-	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000233959	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000679546	missense variant	-	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000635445	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000129084	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406Leu	RCV000656727	missense variant	BMPR1A Skeletal Dysplasia Syndrome	NC_000010.11:g.86921570G>T	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000561496	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406Leu	rs587780107	missense variant	-	NC_000010.11:g.86921570G>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg406His	rs587780107	missense variant	-	NC_000010.11:g.86921570G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Arg406Cys	rs587781332	missense variant	-	NC_000010.11:g.86921569C>T	ExAC,gnomAD
BMPR1A	P36894	p.Tyr407Ter	rs1131691181	stop gained	-	NC_000010.11:g.86921574C>G	-
BMPR1A	P36894	p.Tyr407Cys	rs1554891322	missense variant	-	NC_000010.11:g.86921573A>G	-
BMPR1A	P36894	p.Tyr407Ter	RCV000779843	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921574C>G	ClinVar
BMPR1A	P36894	p.Tyr407Cys	RCV000568210	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921573A>G	ClinVar
BMPR1A	P36894	p.Ala409Thr	rs1554891324	missense variant	-	NC_000010.11:g.86921578G>A	-
BMPR1A	P36894	p.Ala409Thr	RCV000635421	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921578G>A	ClinVar
BMPR1A	P36894	p.Glu411Lys	rs786202611	missense variant	-	NC_000010.11:g.86921584G>A	-
BMPR1A	P36894	p.Glu411Lys	RCV000165505	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921584G>A	ClinVar
BMPR1A	P36894	p.Glu411Lys	RCV000463942	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921584G>A	ClinVar
BMPR1A	P36894	p.Val412Ala	rs576247658	missense variant	-	NC_000010.11:g.86921588T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val412Ala	RCV000589484	missense variant	-	NC_000010.11:g.86921588T>C	ClinVar
BMPR1A	P36894	p.Asp414Gly	rs1409093791	missense variant	-	NC_000010.11:g.86921594A>G	TOPMed
BMPR1A	P36894	p.Asp414Glu	rs767296986	missense variant	-	NC_000010.11:g.86921595C>G	gnomAD
BMPR1A	P36894	p.Asp414Asn	RCV000635451	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921593G>A	ClinVar
BMPR1A	P36894	p.Asp414Asn	rs1554891329	missense variant	-	NC_000010.11:g.86921593G>A	-
BMPR1A	P36894	p.Asp414Glu	RCV000580614	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921595C>G	ClinVar
BMPR1A	P36894	p.Asp414Glu	RCV000805463	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921595C>G	ClinVar
BMPR1A	P36894	p.Glu415Lys	rs140592056	missense variant	-	NC_000010.11:g.86921596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu415Asp	rs786204235	missense variant	-	NC_000010.11:g.86921598A>C	gnomAD
BMPR1A	P36894	p.Glu415Asp	RCV000573444	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Asp	RCV000168387	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Asp	RCV000587976	missense variant	-	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Ter	RCV000484302	frameshift	-	NC_000010.11:g.86921596_86921597delinsTTTC	ClinVar
BMPR1A	P36894	p.Glu415Lys	RCV000120252	missense variant	-	NC_000010.11:g.86921596G>A	ClinVar
BMPR1A	P36894	p.Ser416Asn	RCV000457437	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921600G>A	ClinVar
BMPR1A	P36894	p.Ser416Asn	rs1060503395	missense variant	-	NC_000010.11:g.86921600G>A	-
BMPR1A	P36894	p.Ser416Ter	RCV000571812	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598_86921599dup	ClinVar
BMPR1A	P36894	p.Leu417Val	RCV000685715	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921602C>G	ClinVar
BMPR1A	P36894	p.Asn420Lys	rs876660798	missense variant	-	NC_000010.11:g.86921613C>A	TOPMed
BMPR1A	P36894	p.Asn420Ser	rs1478085865	missense variant	-	NC_000010.11:g.86921612A>G	TOPMed
BMPR1A	P36894	p.Asn420Lys	rs876660798	missense variant	-	NC_000010.11:g.86921613C>G	TOPMed
BMPR1A	P36894	p.Asn420Lys	RCV000218661	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921613C>A	ClinVar
BMPR1A	P36894	p.His421Tyr	RCV000635410	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921614C>T	ClinVar
BMPR1A	P36894	p.His421Tyr	rs1554891338	missense variant	-	NC_000010.11:g.86921614C>T	-
BMPR1A	P36894	p.Gln423His	rs1198334501	missense variant	-	NC_000010.11:g.86921622G>T	gnomAD
BMPR1A	P36894	p.Pro424Ser	RCV000580537	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921623C>T	ClinVar
BMPR1A	P36894	p.Pro424Ser	RCV000819098	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921623C>T	ClinVar
BMPR1A	P36894	p.Pro424Ser	rs201362537	missense variant	-	NC_000010.11:g.86921623C>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Tyr425Phe	rs758599378	missense variant	-	NC_000010.11:g.86921627A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr425Phe	RCV000195582	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921627A>T	ClinVar
BMPR1A	P36894	p.Tyr425Phe	RCV000222403	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921627A>T	ClinVar
BMPR1A	P36894	p.Ile426Val	rs780148965	missense variant	-	NC_000010.11:g.86921629A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile426Leu	rs780148965	missense variant	-	NC_000010.11:g.86921629A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile426Val	RCV000198104	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>G	ClinVar
BMPR1A	P36894	p.Ile426Leu	RCV000459702	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>C	ClinVar
BMPR1A	P36894	p.Ile426Leu	RCV000564181	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921629A>C	ClinVar
BMPR1A	P36894	p.Met427Val	rs747090661	missense variant	-	NC_000010.11:g.86921632A>G	ExAC,gnomAD
BMPR1A	P36894	p.Met427Ile	rs769212314	missense variant	-	NC_000010.11:g.86921634G>A	ExAC,gnomAD
BMPR1A	P36894	p.Tyr431Cys	rs1554891343	missense variant	-	NC_000010.11:g.86921645A>G	-
BMPR1A	P36894	p.Tyr431Cys	RCV000569279	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921645A>G	ClinVar
BMPR1A	P36894	p.Gly434Ser	RCV000115827	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Gly434Ser	RCV000476402	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Gly434Ser	RCV000212149	missense variant	-	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Gly434Ser	rs587780108	missense variant	-	NC_000010.11:g.86921653G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Ile436Val	rs863224718	missense variant	-	NC_000010.11:g.86921659A>G	-
BMPR1A	P36894	p.Ile436Val	RCV000199311	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921659A>G	ClinVar
BMPR1A	P36894	p.Ile437Val	rs770073861	missense variant	-	NC_000010.11:g.86921662A>G	ExAC,gnomAD
BMPR1A	P36894	p.Trp438Ter	RCV000690555	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921667G>A	ClinVar
BMPR1A	P36894	p.Met440Ile	RCV000635466	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921673G>A	ClinVar
BMPR1A	P36894	p.Met440Val	rs1327393432	missense variant	-	NC_000010.11:g.86921671A>G	TOPMed
BMPR1A	P36894	p.Met440Val	RCV000797683	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921671A>G	ClinVar
BMPR1A	P36894	p.Met440Val	RCV000566385	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921671A>G	ClinVar
BMPR1A	P36894	p.Met440Ile	rs1554891352	missense variant	-	NC_000010.11:g.86921673G>A	-
BMPR1A	P36894	p.Ala441Val	RCV000704945	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921675C>T	ClinVar
BMPR1A	P36894	p.Ala441Ser	rs762731644	missense variant	-	NC_000010.11:g.86921674G>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg442His	RCV000635444	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921678G>A	ClinVar
BMPR1A	P36894	p.Arg442Cys	RCV000131624	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921677C>T	ClinVar
BMPR1A	P36894	p.Arg442Cys	RCV000459415	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921677C>T	ClinVar
BMPR1A	P36894	p.Arg442Cys	rs587782496	missense variant	-	NC_000010.11:g.86921677C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg442His	rs1554891354	missense variant	-	NC_000010.11:g.86921678G>A	-
BMPR1A	P36894	p.Arg443Cys	RCV000123222	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	ClinVar
BMPR1A	P36894	p.Arg443His	RCV000216122	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921681G>A	ClinVar
BMPR1A	P36894	p.Arg443Cys	rs35619497	missense variant	-	NC_000010.11:g.86921680C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg443Cys	rs35619497	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt,dbSNP
BMPR1A	P36894	p.Arg443Cys	VAR_022831	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt
BMPR1A	P36894	p.Arg443His	rs876659155	missense variant	-	NC_000010.11:g.86921681G>A	-
BMPR1A	P36894	p.Arg443Cys	RCV000130683	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921680C>T	ClinVar
BMPR1A	P36894	p.Cys444Arg	rs774061725	missense variant	-	NC_000010.11:g.86921683T>C	ExAC,gnomAD
BMPR1A	P36894	p.Cys444Arg	RCV000507271	missense variant	-	NC_000010.11:g.86921683T>C	ClinVar
BMPR1A	P36894	p.Ile445Val	rs587781503	missense variant	-	NC_000010.11:g.86921686A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile445Val	RCV000557878	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000779844	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000129478	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000484454	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Gly448Glu	rs1475630647	missense variant	-	NC_000010.11:g.86923376G>A	TOPMed
BMPR1A	P36894	p.Ile449Thr	RCV000130214	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923379T>C	ClinVar
BMPR1A	P36894	p.Ile449Thr	RCV000698507	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923379T>C	ClinVar
BMPR1A	P36894	p.Ile449Thr	rs587781884	missense variant	-	NC_000010.11:g.86923379T>C	-
BMPR1A	P36894	p.Val450Leu	RCV000551563	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923381G>C	ClinVar
BMPR1A	P36894	p.Val450Met	RCV000130813	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923381G>A	ClinVar
BMPR1A	P36894	p.Val450Met	rs55932635	missense variant	-	NC_000010.11:g.86923381G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val450Leu	rs55932635	missense variant	-	NC_000010.11:g.86923381G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln454Ter	RCV000801917	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923393C>T	ClinVar
BMPR1A	P36894	p.Gln454Ter	RCV000569373	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923393C>T	ClinVar
BMPR1A	P36894	p.Gln454Ter	rs1554891570	stop gained	-	NC_000010.11:g.86923393C>T	-
BMPR1A	P36894	p.Leu455Ser	rs1554891572	missense variant	-	NC_000010.11:g.86923397T>C	-
BMPR1A	P36894	p.Leu455Ser	RCV000635468	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923397T>C	ClinVar
BMPR1A	P36894	p.Leu455Phe	rs753694209	missense variant	-	NC_000010.11:g.86923398G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Leu455Phe	RCV000540010	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923398G>T	ClinVar
BMPR1A	P36894	p.Tyr458Ter	RCV000701773	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923407C>A	ClinVar
BMPR1A	P36894	p.Asn459Ser	RCV000779841	missense variant	-	NC_000010.11:g.86923409A>G	ClinVar
BMPR1A	P36894	p.Met460Val	rs761612520	missense variant	-	NC_000010.11:g.86923411A>G	ExAC,gnomAD
BMPR1A	P36894	p.Met460Ile	rs1206243685	missense variant	-	NC_000010.11:g.86923413G>C	TOPMed
BMPR1A	P36894	p.Met460Ile	RCV000580906	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923413G>C	ClinVar
BMPR1A	P36894	p.Met460Ile	RCV000550225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923413G>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000763677	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000482353	missense variant	-	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000796815	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000164562	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	rs758309022	missense variant	-	NC_000010.11:g.86923412T>C	UniProt,dbSNP
BMPR1A	P36894	p.Met460Thr	VAR_077353	missense variant	-	NC_000010.11:g.86923412T>C	UniProt
BMPR1A	P36894	p.Met460Thr	rs758309022	missense variant	-	NC_000010.11:g.86923412T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val461Leu	rs1160800840	missense variant	-	NC_000010.11:g.86923414G>T	gnomAD
BMPR1A	P36894	p.Pro462Ser	rs1358264691	missense variant	-	NC_000010.11:g.86923417C>T	gnomAD
BMPR1A	P36894	p.Pro462Leu	rs1418504897	missense variant	-	NC_000010.11:g.86923418C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Pro462Leu	RCV000635440	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923418C>T	ClinVar
BMPR1A	P36894	p.Asp464Val	rs1367928891	missense variant	-	NC_000010.11:g.86923424A>T	gnomAD
BMPR1A	P36894	p.Tyr467Ter	rs149787558	stop gained	-	NC_000010.11:g.86923434C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr467Ter	RCV000574255	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923434C>A	ClinVar
BMPR1A	P36894	p.Glu468Gln	RCV000519728	missense variant	-	NC_000010.11:g.86923435G>C	ClinVar
BMPR1A	P36894	p.Glu468Lys	rs199907158	missense variant	-	NC_000010.11:g.86923435G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu468Gln	rs199907158	missense variant	-	NC_000010.11:g.86923435G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu468Lys	RCV000635476	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923435G>A	ClinVar
BMPR1A	P36894	p.Asp469Asn	RCV000479202	missense variant	-	NC_000010.11:g.86923438G>A	ClinVar
BMPR1A	P36894	p.Asp469Asn	rs1064794161	missense variant	-	NC_000010.11:g.86923438G>A	-
BMPR1A	P36894	p.Met470Thr	rs199476089	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt,dbSNP
BMPR1A	P36894	p.Met470Thr	VAR_022832	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt
BMPR1A	P36894	p.Met470Thr	RCV000569040	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923442T>C	ClinVar
BMPR1A	P36894	p.Met470Ile	rs749743579	missense variant	-	NC_000010.11:g.86923443G>A	ExAC,gnomAD
BMPR1A	P36894	p.Met470Ile	RCV000576105	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923443G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	rs771452619	missense variant	-	NC_000010.11:g.86923444C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg471Cys	RCV000581065	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Arg471His	rs779371501	missense variant	-	NC_000010.11:g.86923445G>A	ExAC,gnomAD
BMPR1A	P36894	p.Arg471His	RCV000703304	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923445G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	RCV000757031	missense variant	-	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Arg471His	RCV000580005	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923445G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	RCV000688695	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Glu472Asp	rs1410256559	missense variant	-	NC_000010.11:g.86923449G>C	TOPMed
BMPR1A	P36894	p.Glu472Lys	RCV000132424	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923447G>A	ClinVar
BMPR1A	P36894	p.Glu472Asp	RCV000573530	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923449G>C	ClinVar
BMPR1A	P36894	p.Glu472Lys	rs587782836	missense variant	-	NC_000010.11:g.86923447G>A	-
BMPR1A	P36894	p.Glu472Asp	RCV000690147	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923449G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	rs567733221	missense variant	-	NC_000010.11:g.86923453G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val474Leu	RCV000481877	missense variant	-	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	RCV000129399	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	RCV000467583	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	rs567733221	missense variant	-	NC_000010.11:g.86923453G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys477Arg	rs767995260	missense variant	-	NC_000010.11:g.86923463A>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys477Ile	RCV000656578	missense variant	-	NC_000010.11:g.86923463A>T	ClinVar
BMPR1A	P36894	p.Lys477Ile	rs767995260	missense variant	-	NC_000010.11:g.86923463A>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg478Leu	RCV000772719	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923466G>T	ClinVar
BMPR1A	P36894	p.Arg478Cys	RCV000561021	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478Leu	rs113849804	missense variant	-	NC_000010.11:g.86923466G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478His	RCV000515344	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923466G>A	ClinVar
BMPR1A	P36894	p.Arg478His	RCV000235579	missense variant	-	NC_000010.11:g.86923466G>A	ClinVar
BMPR1A	P36894	p.Arg478Cys	RCV000236117	missense variant	-	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478Cys	RCV000468095	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478His	rs113849804	missense variant	-	NC_000010.11:g.86923466G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478Cys	rs372178531	missense variant	-	NC_000010.11:g.86923465C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg480Leu	RCV000216078	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923472G>T	ClinVar
BMPR1A	P36894	p.Arg480Leu	RCV000692641	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923472G>T	ClinVar
BMPR1A	P36894	p.Arg480Gln	rs535109719	missense variant	-	NC_000010.11:g.86923472G>A	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Arg480Leu	rs535109719	missense variant	-	NC_000010.11:g.86923472G>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Arg480Trp	RCV000513335	missense variant	-	NC_000010.11:g.86923471C>T	ClinVar
BMPR1A	P36894	p.Arg480Trp	RCV000466486	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923471C>T	ClinVar
BMPR1A	P36894	p.Ile482Val	RCV000776412	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923477A>G	ClinVar
BMPR1A	P36894	p.Ile482Val	rs974639091	missense variant	-	NC_000010.11:g.86923477A>G	TOPMed,gnomAD
BMPR1A	P36894	p.Ile482Val	RCV000539230	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923477A>G	ClinVar
BMPR1A	P36894	p.Val483Met	rs1163897191	missense variant	-	NC_000010.11:g.86923480G>A	gnomAD
BMPR1A	P36894	p.Ser484Thr	RCV000635465	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923483T>A	ClinVar
BMPR1A	P36894	p.Ser484Thr	rs1554891611	missense variant	-	NC_000010.11:g.86923483T>A	-
BMPR1A	P36894	p.Ser484Thr	RCV000774893	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923483T>A	ClinVar
BMPR1A	P36894	p.Arg486Trp	rs767763451	missense variant	-	NC_000010.11:g.86923489C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg486Trp	RCV000553989	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923489C>T	ClinVar
BMPR1A	P36894	p.Arg486Gln	RCV000563574	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923490G>A	ClinVar
BMPR1A	P36894	p.Arg486Gln	RCV000635446	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923490G>A	ClinVar
BMPR1A	P36894	p.Arg486Trp	RCV000568540	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923489C>T	ClinVar
BMPR1A	P36894	p.Arg486Gln	rs752802257	missense variant	-	NC_000010.11:g.86923490G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg486Gln	rs752802257	missense variant	-	NC_000010.11:g.86923490G>A	UniProt,dbSNP
BMPR1A	P36894	p.Arg486Gln	VAR_041400	missense variant	-	NC_000010.11:g.86923490G>A	UniProt
BMPR1A	P36894	p.Trp487Ter	RCV000493497	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923493G>A	ClinVar
BMPR1A	P36894	p.Trp487Ter	rs1131691175	stop gained	-	NC_000010.11:g.86923493G>A	-
BMPR1A	P36894	p.Asn488Asp	RCV000579939	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923495A>G	ClinVar
BMPR1A	P36894	p.Asn488Asp	rs1554891616	missense variant	-	NC_000010.11:g.86923495A>G	-
BMPR1A	P36894	p.Ser489Thr	RCV000777189	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923499G>C	ClinVar
BMPR1A	P36894	p.Ser489Thr	RCV000532258	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923499G>C	ClinVar
BMPR1A	P36894	p.Ser489Thr	rs1554891617	missense variant	-	NC_000010.11:g.86923499G>C	-
BMPR1A	P36894	p.Asp490Gly	rs756222157	missense variant	-	NC_000010.11:g.86923502A>G	ExAC,gnomAD
BMPR1A	P36894	p.Asp490Gly	RCV000565108	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923502A>G	ClinVar
BMPR1A	P36894	p.Glu491Lys	rs1329735599	missense variant	-	NC_000010.11:g.86923504G>A	gnomAD
BMPR1A	P36894	p.Glu491Lys	RCV000635420	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923504G>A	ClinVar
BMPR1A	P36894	p.Glu491Lys	RCV000580662	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923504G>A	ClinVar
BMPR1A	P36894	p.Cys492Arg	rs764319366	missense variant	-	NC_000010.11:g.86923594T>C	ExAC,gnomAD
BMPR1A	P36894	p.Cys492Tyr	RCV000575987	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>A	ClinVar
BMPR1A	P36894	p.Cys492Phe	rs1256130183	missense variant	-	NC_000010.11:g.86923595G>T	gnomAD
BMPR1A	P36894	p.Cys492Tyr	rs1256130183	missense variant	-	NC_000010.11:g.86923595G>A	gnomAD
BMPR1A	P36894	p.Cys492Phe	RCV000564886	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>T	ClinVar
BMPR1A	P36894	p.Arg494Gln	RCV000580696	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923601G>A	ClinVar
BMPR1A	P36894	p.Arg494Ter	rs786201040	stop gained	-	NC_000010.11:g.86923600C>T	gnomAD
BMPR1A	P36894	p.Arg494Gln	RCV000635429	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923601G>A	ClinVar
BMPR1A	P36894	p.Arg494Ter	RCV000483189	nonsense	-	NC_000010.11:g.86923600C>T	ClinVar
BMPR1A	P36894	p.Arg494Gln	rs1204089728	missense variant	-	NC_000010.11:g.86923601G>A	gnomAD
BMPR1A	P36894	p.Ala495Val	rs876660569	missense variant	-	NC_000010.11:g.86923604C>T	-
BMPR1A	P36894	p.Ala495Val	RCV000219381	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923604C>T	ClinVar
BMPR1A	P36894	p.Val496Ile	rs753939029	missense variant	-	NC_000010.11:g.86923606G>A	ExAC,gnomAD
BMPR1A	P36894	p.Met500Val	RCV000561192	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000462223	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	rs376651641	missense variant	-	NC_000010.11:g.86923618A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met500Val	RCV000664164	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000345991	missense variant	Juvenile Polyposis	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000486559	missense variant	-	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Ser501Ala	RCV000685762	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923621T>G	ClinVar
BMPR1A	P36894	p.Ser501Ter	RCV000662601	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923622C>G	ClinVar
BMPR1A	P36894	p.Ser501Ter	rs1554891649	stop gained	-	NC_000010.11:g.86923622C>G	-
BMPR1A	P36894	p.Cys503Ser	rs1554891650	missense variant	-	NC_000010.11:g.86923627T>A	-
BMPR1A	P36894	p.Cys503Tyr	rs869312790	missense variant	-	NC_000010.11:g.86923628G>A	-
BMPR1A	P36894	p.Cys503Ser	RCV000635463	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923627T>A	ClinVar
BMPR1A	P36894	p.Cys503Tyr	RCV000210184	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923628G>A	ClinVar
BMPR1A	P36894	p.Trp504Ter	RCV000226766	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923631G>A	ClinVar
BMPR1A	P36894	p.Trp504Ter	rs878854664	stop gained	-	NC_000010.11:g.86923631G>A	-
BMPR1A	P36894	p.Trp504Ter	RCV000494677	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923631G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	RCV000579448	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923633G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	RCV000470753	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923633G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	rs369966011	missense variant	-	NC_000010.11:g.86923633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn507Ser	rs750840234	missense variant	-	NC_000010.11:g.86923640A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn507Ser	RCV000761117	missense variant	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Asn507Ser	RCV000563202	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Asn507Ser	RCV000229682	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Ala509Ser	RCV000704024	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923645G>T	ClinVar
BMPR1A	P36894	p.Arg511Ser	rs730881437	missense variant	-	NC_000010.11:g.86923653A>C	-
BMPR1A	P36894	p.Arg511Thr	RCV000481601	missense variant	-	NC_000010.11:g.86923652G>C	ClinVar
BMPR1A	P36894	p.Arg511Thr	rs1064793783	missense variant	-	NC_000010.11:g.86923652G>C	-
BMPR1A	P36894	p.Arg511Ser	RCV000159841	missense variant	-	NC_000010.11:g.86923653A>C	ClinVar
BMPR1A	P36894	p.Leu512Pro	RCV000777155	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923655T>C	ClinVar
BMPR1A	P36894	p.Leu512Phe	rs1554891661	missense variant	-	NC_000010.11:g.86923654C>T	-
BMPR1A	P36894	p.Leu512Phe	RCV000635487	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923654C>T	ClinVar
BMPR1A	P36894	p.Thr513Arg	RCV000570983	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923658C>G	ClinVar
BMPR1A	P36894	p.Thr513Arg	rs1201398448	missense variant	-	NC_000010.11:g.86923658C>G	TOPMed
BMPR1A	P36894	p.Ile517Ser	RCV000562011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923670T>G	ClinVar
BMPR1A	P36894	p.Ile517Ser	rs1554891667	missense variant	-	NC_000010.11:g.86923670T>G	-
BMPR1A	P36894	p.Ile517Val	rs754607465	missense variant	-	NC_000010.11:g.86923669A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile517Val	RCV000220935	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923669A>G	ClinVar
BMPR1A	P36894	p.Ile517Val	RCV000635411	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923669A>G	ClinVar
BMPR1A	P36894	p.Lys518Asn	rs1554891668	missense variant	-	NC_000010.11:g.86923674G>C	-
BMPR1A	P36894	p.Lys518Asn	RCV000538426	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923674G>C	ClinVar
BMPR1A	P36894	p.Thr520Met	RCV000701922	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923679C>T	ClinVar
BMPR1A	P36894	p.Thr520Met	rs1179044384	missense variant	-	NC_000010.11:g.86923679C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Leu521Pro	RCV000494307	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923682T>C	ClinVar
BMPR1A	P36894	p.Leu521Ter	RCV000567697	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923679_86923680insTT	ClinVar
BMPR1A	P36894	p.Leu521Pro	rs1131691169	missense variant	-	NC_000010.11:g.86923682T>C	-
BMPR1A	P36894	p.Lys523Arg	rs878854665	missense variant	-	NC_000010.11:g.86923688A>G	gnomAD
BMPR1A	P36894	p.Lys523Arg	RCV000232462	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923688A>G	ClinVar
BMPR1A	P36894	p.Met524Ile	rs1064793404	missense variant	-	NC_000010.11:g.86923692G>T	TOPMed
BMPR1A	P36894	p.Met524Leu	rs747640982	missense variant	-	NC_000010.11:g.86923690A>C	ExAC,gnomAD
BMPR1A	P36894	p.Met524Ile	RCV000479352	missense variant	-	NC_000010.11:g.86923692G>T	ClinVar
BMPR1A	P36894	p.Met524Val	RCV000817674	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923690A>G	ClinVar
BMPR1A	P36894	p.Met524Val	RCV000773711	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923690A>G	ClinVar
BMPR1A	P36894	p.Val525Ile	RCV000777247	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Val525Gly	rs1054284858	missense variant	-	NC_000010.11:g.86923694T>G	TOPMed
BMPR1A	P36894	p.Val525Ile	rs769233029	missense variant	-	NC_000010.11:g.86923693G>A	ExAC,gnomAD
BMPR1A	P36894	p.Val525Ile	RCV000236238	missense variant	-	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Val525Ile	RCV000471649	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Gln528Ter	RCV000563445	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923702C>T	ClinVar
BMPR1A	P36894	p.Gln528His	RCV000776891	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923704A>C	ClinVar
BMPR1A	P36894	p.Gln528His	rs1554891680	missense variant	-	NC_000010.11:g.86923704A>C	-
BMPR1A	P36894	p.Gln528Ter	rs1554891677	stop gained	-	NC_000010.11:g.86923702C>T	-
BMPR1A	P36894	p.Gln528His	RCV000531496	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923704A>C	ClinVar
BMPR1A	P36894	p.Asp529Glu	rs864622175	missense variant	-	NC_000010.11:g.86923707T>A	TOPMed
BMPR1A	P36894	p.Asp529Val	rs1276173920	missense variant	-	NC_000010.11:g.86923706A>T	gnomAD
BMPR1A	P36894	p.Asp529Glu	RCV000572604	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923707T>A	ClinVar
BMPR1A	P36894	p.Asp529Glu	RCV000205016	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923707T>A	ClinVar
BMPR1A	P36894	p.Ile532Met	RCV000129250	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Ile532Met	rs201345248	missense variant	-	NC_000010.11:g.86923716C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile532Met	RCV000470094	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Ile532Met	RCV000034702	missense variant	-	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Met1Val	RCV000556943	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876019A>G	ClinVar
BMPR1A	P36894	p.Met1Val	RCV000166343	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>G	ClinVar
BMPR1A	P36894	p.Met1Ile	RCV000210125	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876021G>C	ClinVar
BMPR1A	P36894	p.Met1Leu	RCV000492794	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>C	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000131909	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000525840	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000120253	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Arg	rs143248687	missense variant	-	NC_000010.11:g.86876023C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Leu	rs143248687	missense variant	-	NC_000010.11:g.86876023C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Thr	rs11528010	missense variant	-	NC_000010.11:g.86876022C>A	UniProt,dbSNP
BMPR1A	P36894	p.Pro2Thr	VAR_041397	missense variant	-	NC_000010.11:g.86876022C>A	UniProt
BMPR1A	P36894	p.Pro2Thr	rs11528010	missense variant	-	NC_000010.11:g.86876022C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Leu	RCV000562590	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Pro2Leu	RCV000411290	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000309392	missense variant	Juvenile Polyposis	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000034703	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Leu	RCV000588955	missense variant	-	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Gln3Pro	rs1554886804	missense variant	-	NC_000010.11:g.86876026A>C	-
BMPR1A	P36894	p.Gln3Pro	RCV000580930	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876026A>C	ClinVar
BMPR1A	P36894	p.Tyr5Ter	rs1392086533	stop gained	-	NC_000010.11:g.86876033C>A	gnomAD
BMPR1A	P36894	p.Tyr5Ter	RCV000565507	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876033C>A	ClinVar
BMPR1A	P36894	p.Tyr7His	rs762926643	missense variant	-	NC_000010.11:g.86876037T>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr7His	RCV000582252	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876037T>C	ClinVar
BMPR1A	P36894	p.Tyr7His	RCV000705938	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876037T>C	ClinVar
BMPR1A	P36894	p.Ile8Val	RCV000195699	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876040A>G	ClinVar
BMPR1A	P36894	p.Ile8Val	rs863224719	missense variant	-	NC_000010.11:g.86876040A>G	TOPMed
BMPR1A	P36894	p.Ile8Val	RCV000214029	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876040A>G	ClinVar
BMPR1A	P36894	p.Arg9Thr	rs766269417	missense variant	-	NC_000010.11:g.86876044G>C	ExAC,gnomAD
BMPR1A	P36894	p.Arg9Thr	RCV000523833	missense variant	-	NC_000010.11:g.86876044G>C	ClinVar
BMPR1A	P36894	p.Ala13Thr	rs200115604	missense variant	-	NC_000010.11:g.86876055G>A	1000Genomes,TOPMed
BMPR1A	P36894	p.Ala13Gly	rs754015069	missense variant	-	NC_000010.11:g.86876056C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ala13Thr	RCV000233196	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876055G>A	ClinVar
BMPR1A	P36894	p.Ala13Thr	RCV000572173	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876055G>A	ClinVar
BMPR1A	P36894	p.Tyr14Ter	RCV000657333	frameshift	-	NC_000010.11:g.86876058dup	ClinVar
BMPR1A	P36894	p.Tyr14Ter	RCV000759483	frameshift	-	NC_000010.11:g.86876057del	ClinVar
BMPR1A	P36894	p.Leu15Ter	RCV000635432	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876062_86876065del	ClinVar
BMPR1A	P36894	p.Phe16Tyr	rs151235720	missense variant	-	NC_000010.11:g.86876065T>A	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Phe16Cys	rs151235720	missense variant	-	NC_000010.11:g.86876065T>G	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Phe16Cys	RCV000159833	missense variant	-	NC_000010.11:g.86876065T>G	ClinVar
BMPR1A	P36894	p.Ile17Leu	rs778886055	missense variant	-	NC_000010.11:g.86876067A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile17Val	rs778886055	missense variant	-	NC_000010.11:g.86876067A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile17Leu	RCV000758774	missense variant	-	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile17Leu	RCV000216319	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile17Leu	RCV000701225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile18Thr	rs745920240	missense variant	-	NC_000010.11:g.86876071T>C	ExAC,gnomAD
BMPR1A	P36894	p.Arg20Cys	RCV000580767	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876076C>T	ClinVar
BMPR1A	P36894	p.Arg20His	rs759014147	missense variant	-	NC_000010.11:g.86876077G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg20Cys	rs1472397694	missense variant	-	NC_000010.11:g.86876076C>T	TOPMed
BMPR1A	P36894	p.Arg20Cys	RCV000553756	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876076C>T	ClinVar
BMPR1A	P36894	p.Arg20His	RCV000213165	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876077G>A	ClinVar
BMPR1A	P36894	p.Gln22His	RCV000168143	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876084A>C	ClinVar
BMPR1A	P36894	p.Gln22Ter	rs1554886821	stop gained	-	NC_000010.11:g.86876082C>T	-
BMPR1A	P36894	p.Gln22Pro	rs747437716	missense variant	-	NC_000010.11:g.86876083A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln22His	rs786204152	missense variant	-	NC_000010.11:g.86876084A>C	-
BMPR1A	P36894	p.Gln22His	RCV000758776	missense variant	-	NC_000010.11:g.86876084A>C	ClinVar
BMPR1A	P36894	p.Gln22Pro	RCV000704484	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876083A>C	ClinVar
BMPR1A	P36894	p.Gln22Pro	RCV000480437	missense variant	-	NC_000010.11:g.86876083A>C	ClinVar
BMPR1A	P36894	p.Gln22Ter	RCV000521828	nonsense	-	NC_000010.11:g.86876082C>T	ClinVar
BMPR1A	P36894	p.Gly23Arg	rs1131691171	missense variant	-	NC_000010.11:g.86876085G>A	-
BMPR1A	P36894	p.Gly23Arg	RCV000494227	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876085G>A	ClinVar
BMPR1A	P36894	p.Gln24Arg	rs1163365235	missense variant	-	NC_000010.11:g.86890065A>G	gnomAD
BMPR1A	P36894	p.Asn25Ser	RCV000487317	missense variant	-	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Asn25Ser	rs1060503410	missense variant	-	NC_000010.11:g.86890068A>G	-
BMPR1A	P36894	p.Asn25Ser	RCV000463279	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Asn25Ser	RCV000566090	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Leu26Pro	rs200307579	missense variant	-	NC_000010.11:g.86890071T>C	1000Genomes
BMPR1A	P36894	p.Asp27Tyr	rs1430886611	missense variant	-	NC_000010.11:g.86890073G>T	gnomAD
BMPR1A	P36894	p.Ser28Asn	RCV000196492	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Ser28Asn	rs371904636	missense variant	-	NC_000010.11:g.86890077G>A	ESP,TOPMed,gnomAD
BMPR1A	P36894	p.Ser28Gly	rs1170582171	missense variant	-	NC_000010.11:g.86890076A>G	gnomAD
BMPR1A	P36894	p.Ser28Asn	RCV000568404	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Ser28Asn	RCV000483899	missense variant	-	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Leu30Arg	RCV000580173	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890083T>G	ClinVar
BMPR1A	P36894	p.Leu30Arg	rs1194403044	missense variant	-	NC_000010.11:g.86890083T>G	TOPMed
BMPR1A	P36894	p.His31Gln	rs1461705514	missense variant	-	NC_000010.11:g.86890087T>A	gnomAD
BMPR1A	P36894	p.Gly32Arg	rs755462552	missense variant	-	NC_000010.11:g.86890088G>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly32Arg	RCV000522769	missense variant	-	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Gly32Arg	RCV000461457	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Gly32Arg	RCV000572168	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Thr33Ser	RCV000569418	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890092C>G	ClinVar
BMPR1A	P36894	p.Thr33Ser	rs142454490	missense variant	-	NC_000010.11:g.86890092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr33Ala	rs748515167	missense variant	-	NC_000010.11:g.86890091A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr33Ala	RCV000565843	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890091A>G	ClinVar
BMPR1A	P36894	p.Thr33Ala	RCV000552227	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890091A>G	ClinVar
BMPR1A	P36894	p.Gly34Ala	rs730881430	missense variant	-	NC_000010.11:g.86890095G>C	-
BMPR1A	P36894	p.Gly34Ala	RCV000159834	missense variant	-	NC_000010.11:g.86890095G>C	ClinVar
BMPR1A	P36894	p.Gly34Ala	RCV000213466	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890095G>C	ClinVar
BMPR1A	P36894	p.Met35Ile	RCV000772959	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890099G>T	ClinVar
BMPR1A	P36894	p.Met35Val	rs1043850286	missense variant	-	NC_000010.11:g.86890097A>G	TOPMed
BMPR1A	P36894	p.Lys36Thr	RCV000776991	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890101A>C	ClinVar
BMPR1A	P36894	p.Asp38Glu	RCV000573226	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890108C>G	ClinVar
BMPR1A	P36894	p.Asp38Glu	rs1021443408	missense variant	-	NC_000010.11:g.86890108C>G	TOPMed,gnomAD
BMPR1A	P36894	p.Asp38His	rs1554888103	missense variant	-	NC_000010.11:g.86890106G>C	-
BMPR1A	P36894	p.Asp38Glu	RCV000822318	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890108C>G	ClinVar
BMPR1A	P36894	p.Asp38His	RCV000580814	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890106G>C	ClinVar
BMPR1A	P36894	p.Ser39Tyr	RCV000580363	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>A	ClinVar
BMPR1A	P36894	p.Ser39Phe	RCV000223454	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>T	ClinVar
BMPR1A	P36894	p.Ser39Tyr	rs876658859	missense variant	-	NC_000010.11:g.86890110C>A	-
BMPR1A	P36894	p.Ser39Phe	rs876658859	missense variant	-	NC_000010.11:g.86890110C>T	-
BMPR1A	P36894	p.Ser39Ter	RCV000144578	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890109_86890110insA	ClinVar
BMPR1A	P36894	p.Ser39Phe	RCV000808348	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890110C>T	ClinVar
BMPR1A	P36894	p.Asp40Asn	rs587781556	missense variant	-	NC_000010.11:g.86890112G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp40Ala	rs1060503403	missense variant	-	NC_000010.11:g.86890113A>C	TOPMed
BMPR1A	P36894	p.Asp40Asn	RCV000521982	missense variant	-	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Gly	RCV000635436	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>G	ClinVar
BMPR1A	P36894	p.Asp40Gly	rs1060503403	missense variant	-	NC_000010.11:g.86890113A>G	TOPMed
BMPR1A	P36894	p.Asp40Asn	RCV000464702	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Asn	RCV000129572	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Ala	RCV000463813	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>C	ClinVar
BMPR1A	P36894	p.Asp40Ala	RCV000561127	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890113A>C	ClinVar
BMPR1A	P36894	p.Gln41Arg	rs1363945274	missense variant	-	NC_000010.11:g.86890116A>G	TOPMed
BMPR1A	P36894	p.Lys42Glu	RCV000166341	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890118A>G	ClinVar
BMPR1A	P36894	p.Lys42Glu	rs786203156	missense variant	-	NC_000010.11:g.86890118A>G	-
BMPR1A	P36894	p.Lys42Glu	RCV000635485	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890118A>G	ClinVar
BMPR1A	P36894	p.Glu45Lys	RCV000536243	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127G>A	ClinVar
BMPR1A	P36894	p.Glu45Gly	RCV000697948	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890128A>G	ClinVar
BMPR1A	P36894	p.Glu45Lys	rs1554888112	missense variant	-	NC_000010.11:g.86890127G>A	-
BMPR1A	P36894	p.Glu45Ter	RCV000705111	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127_86890128del	ClinVar
BMPR1A	P36894	p.Gly47Glu	RCV000231777	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890134G>A	ClinVar
BMPR1A	P36894	p.Gly47Val	rs368595543	missense variant	-	NC_000010.11:g.86890134G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly47Glu	rs368595543	missense variant	-	NC_000010.11:g.86890134G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly47Glu	RCV000166542	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890134G>A	ClinVar
BMPR1A	P36894	p.Gly47Ter	RCV000687804	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890133G>T	ClinVar
BMPR1A	P36894	p.Gly47Val	RCV000478286	missense variant	-	NC_000010.11:g.86890134G>T	ClinVar
BMPR1A	P36894	p.Val48Ile	rs775188308	missense variant	-	NC_000010.11:g.86890136G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr49Ter	RCV000478294	frameshift	-	NC_000010.11:g.86890137dup	ClinVar
BMPR1A	P36894	p.Ala51Thr	RCV000824159	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890145G>A	ClinVar
BMPR1A	P36894	p.Ala51Thr	RCV000566608	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890145G>A	ClinVar
BMPR1A	P36894	p.Ala51Thr	rs1554888117	missense variant	-	NC_000010.11:g.86890145G>A	-
BMPR1A	P36894	p.Glu53Lys	RCV000580074	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890151G>A	ClinVar
BMPR1A	P36894	p.Glu53Gly	rs1554888120	missense variant	-	NC_000010.11:g.86890152A>G	-
BMPR1A	P36894	p.Glu53Lys	rs1554888119	missense variant	-	NC_000010.11:g.86890151G>A	-
BMPR1A	P36894	p.Glu53Gly	RCV000572940	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890152A>G	ClinVar
BMPR1A	P36894	p.Asp54Val	rs1554888124	missense variant	-	NC_000010.11:g.86890155A>T	-
BMPR1A	P36894	p.Asp54Val	RCV000635483	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890155A>T	ClinVar
BMPR1A	P36894	p.Asp54Ter	RCV000492863	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890154del	ClinVar
BMPR1A	P36894	p.Leu56Trp	rs1554888125	missense variant	-	NC_000010.11:g.86890161T>G	-
BMPR1A	P36894	p.Leu56Trp	RCV000635418	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890161T>G	ClinVar
BMPR1A	P36894	p.Pro57Arg	RCV000494075	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890164C>G	ClinVar
BMPR1A	P36894	p.Pro57Arg	rs1057517610	missense variant	-	NC_000010.11:g.86890164C>G	gnomAD
BMPR1A	P36894	p.Phe58Ter	RCV000546241	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170del	ClinVar
BMPR1A	P36894	p.Phe58Ter	RCV000162393	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890170del	ClinVar
BMPR1A	P36894	p.Phe58Tyr	VAR_041398	Missense	-	-	UniProt
BMPR1A	P36894	p.Leu59Ter	RCV000755041	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170T>A	ClinVar
BMPR1A	P36894	p.Tyr62Cys	rs1060503402	missense variant	-	NC_000010.11:g.86890179A>G	-
BMPR1A	P36894	p.Tyr62Cys	RCV000572912	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890179A>G	ClinVar
BMPR1A	P36894	p.Tyr62Cys	RCV000477054	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890179A>G	ClinVar
BMPR1A	P36894	p.Tyr62Asp	VAR_022828	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
BMPR1A	P36894	p.Cys63Ter	RCV000777502	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890183C>A	ClinVar
BMPR1A	P36894	p.Ser64Leu	rs760515128	missense variant	-	NC_000010.11:g.86890185C>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser64Thr	rs201749804	missense variant	-	NC_000010.11:g.86890184T>A	1000Genomes
BMPR1A	P36894	p.Ser64Leu	RCV000235281	missense variant	-	NC_000010.11:g.86890185C>T	ClinVar
BMPR1A	P36894	p.Ser64Leu	RCV000570508	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890185C>T	ClinVar
BMPR1A	P36894	p.Asp69Tyr	RCV000635479	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890199G>T	ClinVar
BMPR1A	P36894	p.Asp69Tyr	rs1177143902	missense variant	-	NC_000010.11:g.86890199G>T	gnomAD
BMPR1A	P36894	p.Asp69His	rs1177143902	missense variant	-	NC_000010.11:g.86890199G>C	gnomAD
BMPR1A	P36894	p.Asp69Gly	rs1554888137	missense variant	-	NC_000010.11:g.86890200A>G	-
BMPR1A	P36894	p.Asp69Gly	RCV000570711	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890200A>G	ClinVar
BMPR1A	P36894	p.Asp69Ter	RCV000570399	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890193_86890197dup	ClinVar
BMPR1A	P36894	p.Asp70Val	RCV000465318	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890203A>T	ClinVar
BMPR1A	P36894	p.Asp70Val	rs1060503394	missense variant	-	NC_000010.11:g.86890203A>T	-
BMPR1A	P36894	p.Asp70Val	RCV000759481	missense variant	-	NC_000010.11:g.86890203A>T	ClinVar
BMPR1A	P36894	p.Ala71Ter	RCV000460119	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890207_86890222del	ClinVar
BMPR1A	P36894	p.Ile72Val	rs1064795729	missense variant	-	NC_000010.11:g.86890208A>G	-
BMPR1A	P36894	p.Ile72Val	RCV000530720	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Ile72Val	RCV000484198	missense variant	-	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Ile72Val	RCV000776272	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Asn73Ter	RCV000163765	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890210dup	ClinVar
BMPR1A	P36894	p.Thr75Ala	RCV000572222	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890217A>G	ClinVar
BMPR1A	P36894	p.Thr75Ala	rs1554888142	missense variant	-	NC_000010.11:g.86890217A>G	-
BMPR1A	P36894	p.Cys76Tyr	rs786201792	missense variant	-	NC_000010.11:g.86890221G>A	-
BMPR1A	P36894	p.Cys76Tyr	RCV000164261	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890221G>A	ClinVar
BMPR1A	P36894	p.Ile77Val	rs878854666	missense variant	-	NC_000010.11:g.86890223A>G	-
BMPR1A	P36894	p.Ile77Val	RCV000226374	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890223A>G	ClinVar
BMPR1A	P36894	p.Thr78Ser	rs1064793490	missense variant	-	NC_000010.11:g.86892129C>G	gnomAD
BMPR1A	P36894	p.Thr78Ile	RCV000478119	missense variant	-	NC_000010.11:g.86892129C>T	ClinVar
BMPR1A	P36894	p.Thr78Ile	RCV000794170	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892129C>T	ClinVar
BMPR1A	P36894	p.Thr78Ile	rs1064793490	missense variant	-	NC_000010.11:g.86892129C>T	gnomAD
BMPR1A	P36894	p.His81Tyr	RCV000560576	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892137C>T	ClinVar
BMPR1A	P36894	p.His81Leu	rs1064793333	missense variant	-	NC_000010.11:g.86892138A>T	TOPMed
BMPR1A	P36894	p.His81Arg	RCV000478543	missense variant	-	NC_000010.11:g.86892138A>G	ClinVar
BMPR1A	P36894	p.His81Arg	rs1064793333	missense variant	-	NC_000010.11:g.86892138A>G	TOPMed
BMPR1A	P36894	p.His81Tyr	rs953797046	missense variant	-	NC_000010.11:g.86892137C>T	TOPMed,gnomAD
BMPR1A	P36894	p.His81Leu	RCV000567266	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>T	ClinVar
BMPR1A	P36894	p.His81Tyr	RCV000561451	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892137C>T	ClinVar
BMPR1A	P36894	p.His81Leu	RCV000694497	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892138A>T	ClinVar
BMPR1A	P36894	p.His81Arg	RCV000580728	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>G	ClinVar
BMPR1A	P36894	p.Cys82Gly	RCV000456263	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892140T>G	ClinVar
BMPR1A	P36894	p.Cys82Phe	rs1554888310	missense variant	-	NC_000010.11:g.86892141G>T	-
BMPR1A	P36894	p.Cys82Ter	rs759647230	stop gained	-	NC_000010.11:g.86892142C>A	ExAC,gnomAD
BMPR1A	P36894	p.Cys82Gly	rs1060503406	missense variant	-	NC_000010.11:g.86892140T>G	-
BMPR1A	P36894	p.Cys82Ter	RCV000214108	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892142C>A	ClinVar
BMPR1A	P36894	p.Cys82Phe	RCV000574493	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892141G>T	ClinVar
BMPR1A	P36894	p.Cys82Tyr	VAR_022829	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
BMPR1A	P36894	p.Phe83Ter	RCV000168250	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892143_86892147del	ClinVar
BMPR1A	P36894	p.Ala84Thr	rs1456980302	missense variant	-	NC_000010.11:g.86892146G>A	TOPMed
BMPR1A	P36894	p.Ala84Thr	RCV000801612	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892146G>A	ClinVar
BMPR1A	P36894	p.Ala84Thr	RCV000773974	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892146G>A	ClinVar
BMPR1A	P36894	p.Ile85Val	rs374739820	missense variant	-	NC_000010.11:g.86892149A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile85Val	RCV000206721	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000487158	missense variant	-	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000130327	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile86Thr	rs876659498	missense variant	-	NC_000010.11:g.86892153T>C	TOPMed
BMPR1A	P36894	p.Ile86Val	rs1554888312	missense variant	-	NC_000010.11:g.86892152A>G	-
BMPR1A	P36894	p.Ile86Val	RCV000819731	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892152A>G	ClinVar
BMPR1A	P36894	p.Ile86Val	RCV000579713	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892152A>G	ClinVar
BMPR1A	P36894	p.Ile86Thr	RCV000221898	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892153T>C	ClinVar
BMPR1A	P36894	p.Glu88Ter	rs730881431	stop gained	-	NC_000010.11:g.86892158G>T	-
BMPR1A	P36894	p.Glu88Ter	RCV000493126	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892158G>T	ClinVar
BMPR1A	P36894	p.Glu88Ter	RCV000159835	nonsense	-	NC_000010.11:g.86892158G>T	ClinVar
BMPR1A	P36894	p.Gln91Lys	RCV000229144	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892167C>A	ClinVar
BMPR1A	P36894	p.Gln91Ter	RCV000573228	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892167C>T	ClinVar
BMPR1A	P36894	p.Gly92Ter	RCV000583582	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892171del	ClinVar
BMPR1A	P36894	p.Thr95Ala	RCV000804756	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892179A>G	ClinVar
BMPR1A	P36894	p.Thr95Ala	RCV000759482	missense variant	-	NC_000010.11:g.86892179A>G	ClinVar
BMPR1A	P36894	p.Leu96Val	rs1554888320	missense variant	-	NC_000010.11:g.86892182T>G	-
BMPR1A	P36894	p.Leu96Val	RCV000566080	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182T>G	ClinVar
BMPR1A	P36894	p.Ala97Ter	RCV000210116	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182_86892185dup	ClinVar
BMPR1A	P36894	p.Ser98Ala	RCV000776966	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892188T>G	ClinVar
BMPR1A	P36894	p.Ser98Leu	rs756541429	missense variant	-	NC_000010.11:g.86892189C>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser98Ala	RCV000700875	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892188T>G	ClinVar
BMPR1A	P36894	p.Cys100Gly	RCV000562825	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892194T>G	ClinVar
BMPR1A	P36894	p.Cys100Gly	rs1554888323	missense variant	-	NC_000010.11:g.86892194T>G	-
BMPR1A	P36894	p.Tyr103Ter	rs876658891	stop gained	-	NC_000010.11:g.86892205T>G	-
BMPR1A	P36894	p.Tyr103Ter	RCV000218016	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892205T>G	ClinVar
BMPR1A	P36894	p.Phe108Leu	rs1554888328	missense variant	-	NC_000010.11:g.86892218T>C	-
BMPR1A	P36894	p.Phe108Leu	RCV000635475	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892218T>C	ClinVar
BMPR1A	P36894	p.Gln109Ter	RCV000573819	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892221del	ClinVar
BMPR1A	P36894	p.Lys111Arg	rs756944246	missense variant	-	NC_000010.11:g.86892228A>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys111Arg	RCV000477480	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892228A>G	ClinVar
BMPR1A	P36894	p.Pro114Ser	rs1554888960	missense variant	-	NC_000010.11:g.86899800C>T	-
BMPR1A	P36894	p.Pro114Leu	rs757608699	missense variant	-	NC_000010.11:g.86899801C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro114Ser	RCV000635442	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899800C>T	ClinVar
BMPR1A	P36894	p.Ala116Val	rs750097648	missense variant	-	NC_000010.11:g.86899807C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala116Thr	rs765530870	missense variant	-	NC_000010.11:g.86899806G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ala116Val	RCV000221176	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899807C>T	ClinVar
BMPR1A	P36894	p.Gln117Arg	rs1360094214	missense variant	-	NC_000010.11:g.86899810A>G	TOPMed
BMPR1A	P36894	p.Gln117Arg	RCV000570895	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899810A>G	ClinVar
BMPR1A	P36894	p.Leu118Val	rs587782418	missense variant	-	NC_000010.11:g.86899812C>G	-
BMPR1A	P36894	p.Leu118Val	RCV000131465	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899812C>G	ClinVar
BMPR1A	P36894	p.Arg119Cys	RCV000757030	missense variant	-	NC_000010.11:g.86899815C>T	ClinVar
BMPR1A	P36894	p.Arg119His	rs1554888965	missense variant	-	NC_000010.11:g.86899816G>A	-
BMPR1A	P36894	p.Arg119Cys	RCV000805939	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899815C>T	ClinVar
BMPR1A	P36894	p.Arg119His	RCV000579641	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899816G>A	ClinVar
BMPR1A	P36894	p.Arg119His	RCV000692600	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899816G>A	ClinVar
BMPR1A	P36894	p.Arg120Trp	rs779661827	missense variant	-	NC_000010.11:g.86899818C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg120Gln	rs1060503401	missense variant	-	NC_000010.11:g.86899819G>A	-
BMPR1A	P36894	p.Arg120Gln	RCV000467161	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899819G>A	ClinVar
BMPR1A	P36894	p.Arg120Gln	RCV000482494	missense variant	-	NC_000010.11:g.86899819G>A	ClinVar
BMPR1A	P36894	p.Thr121Ter	RCV000486207	frameshift	-	NC_000010.11:g.86899820del	ClinVar
BMPR1A	P36894	p.Thr121Ile	rs1554888969	missense variant	-	NC_000010.11:g.86899822C>T	-
BMPR1A	P36894	p.Thr121Ile	RCV000580329	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899822C>T	ClinVar
BMPR1A	P36894	p.Thr121Ter	RCV000493948	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899820del	ClinVar
BMPR1A	P36894	p.Ile122Val	rs1310807915	missense variant	-	NC_000010.11:g.86899824A>G	gnomAD
BMPR1A	P36894	p.Ile122Thr	rs1554888971	missense variant	-	NC_000010.11:g.86899825T>C	-
BMPR1A	P36894	p.Ile122Thr	RCV000548319	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899825T>C	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000635455	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899826_86899844del	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000494501	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899827del	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000115828	frameshift	-	NC_000010.11:g.86899829del	ClinVar
BMPR1A	P36894	p.Cys124Arg	rs199476087	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt,dbSNP
BMPR1A	P36894	p.Cys124Arg	VAR_015533	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt
BMPR1A	P36894	p.Cys124Tyr	rs587782388	missense variant	-	NC_000010.11:g.86899831G>A	-
BMPR1A	P36894	p.Cys124Tyr	RCV000131396	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899831G>A	ClinVar
BMPR1A	P36894	p.Cys124Arg	RCV000165949	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899830T>C	ClinVar
BMPR1A	P36894	p.Cys125Ter	RCV000779036	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899834del	ClinVar
BMPR1A	P36894	p.Cys125Gly	RCV000493348	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899833T>G	ClinVar
BMPR1A	P36894	p.Cys125Gly	rs1131691180	missense variant	-	NC_000010.11:g.86899833T>G	-
BMPR1A	P36894	p.Arg126Gly	RCV000563616	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>G	ClinVar
BMPR1A	P36894	p.Arg126Trp	RCV000575950	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>T	ClinVar
BMPR1A	P36894	p.Arg126Gly	RCV000197535	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899836C>G	ClinVar
BMPR1A	P36894	p.Arg126Leu	RCV000236577	missense variant	-	NC_000010.11:g.86899837G>T	ClinVar
BMPR1A	P36894	p.Arg126Leu	RCV000206669	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>T	ClinVar
BMPR1A	P36894	p.Arg126Pro	rs864622549	missense variant	-	NC_000010.11:g.86899837G>C	gnomAD
BMPR1A	P36894	p.Arg126Gly	rs781258592	missense variant	-	NC_000010.11:g.86899836C>G	ExAC,gnomAD
BMPR1A	P36894	p.Arg126Gln	rs864622549	missense variant	-	NC_000010.11:g.86899837G>A	gnomAD
BMPR1A	P36894	p.Arg126Trp	rs781258592	missense variant	-	NC_000010.11:g.86899836C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg126Leu	rs864622549	missense variant	-	NC_000010.11:g.86899837G>T	gnomAD
BMPR1A	P36894	p.Arg126Gln	RCV000691505	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>A	ClinVar
BMPR1A	P36894	p.Arg126Gln	RCV000584220	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899837G>A	ClinVar
BMPR1A	P36894	p.Arg126Pro	RCV000635481	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>C	ClinVar
BMPR1A	P36894	p.Asn128Ser	rs375165807	missense variant	-	NC_000010.11:g.86899843A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn128Ser	RCV000166089	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	RCV000479183	missense variant	-	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	RCV000469945	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Cys130Ser	RCV000200107	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899849G>C	ClinVar
BMPR1A	P36894	p.Cys130Arg	RCV000493560	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899848T>C	ClinVar
BMPR1A	P36894	p.Cys130Arg	rs1131691168	missense variant	-	NC_000010.11:g.86899848T>C	-
BMPR1A	P36894	p.Cys130Arg	rs1131691168	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt,dbSNP
BMPR1A	P36894	p.Cys130Arg	VAR_022830	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt
BMPR1A	P36894	p.Cys130Ser	rs863224720	missense variant	-	NC_000010.11:g.86899849G>C	-
BMPR1A	P36894	p.Asn131Lys	RCV000164797	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>G	ClinVar
BMPR1A	P36894	p.Asn131Lys	RCV000213228	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>A	ClinVar
BMPR1A	P36894	p.Asn131Lys	rs786202136	missense variant	-	NC_000010.11:g.86899853C>G	-
BMPR1A	P36894	p.Asn131Lys	rs786202136	missense variant	-	NC_000010.11:g.86899853C>A	-
BMPR1A	P36894	p.Gln135Arg	rs1344373156	missense variant	-	NC_000010.11:g.86899864A>G	gnomAD
BMPR1A	P36894	p.Pro136Ter	RCV000214964	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899865dup	ClinVar
BMPR1A	P36894	p.Pro136Leu	RCV000635469	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899867C>T	ClinVar
BMPR1A	P36894	p.Pro136Leu	rs1554888980	missense variant	-	NC_000010.11:g.86899867C>T	-
BMPR1A	P36894	p.Pro136Ter	RCV000473459	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899865dup	ClinVar
BMPR1A	P36894	p.Leu138Pro	rs767385418	missense variant	-	NC_000010.11:g.86899873T>C	ExAC,gnomAD
BMPR1A	P36894	p.Leu138Arg	rs767385418	missense variant	-	NC_000010.11:g.86899873T>G	ExAC,gnomAD
BMPR1A	P36894	p.Pro139Arg	RCV000583841	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899876C>G	ClinVar
BMPR1A	P36894	p.Pro139Arg	rs1554888987	missense variant	-	NC_000010.11:g.86899876C>G	-
BMPR1A	P36894	p.Pro139Ser	rs772163112	missense variant	-	NC_000010.11:g.86899875C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro139Ser	RCV000686458	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899875C>T	ClinVar
BMPR1A	P36894	p.Pro140Ter	RCV000635425	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899879del	ClinVar
BMPR1A	P36894	p.Pro140Leu	RCV000580587	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899879C>T	ClinVar
BMPR1A	P36894	p.Pro140Ala	rs138478597	missense variant	-	NC_000010.11:g.86899878C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro140Ser	rs138478597	missense variant	-	NC_000010.11:g.86899878C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro140Leu	rs1312138101	missense variant	-	NC_000010.11:g.86899879C>T	TOPMed
BMPR1A	P36894	p.Pro140Ser	RCV000526586	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Pro140Ala	RCV000473238	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>G	ClinVar
BMPR1A	P36894	p.Pro140Ser	RCV000506566	missense variant	-	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Pro140Ser	RCV000581937	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Val141Ter	RCV000164147	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899880del	ClinVar
BMPR1A	P36894	p.Val141Ile	rs1244692883	missense variant	-	NC_000010.11:g.86899881G>A	gnomAD
BMPR1A	P36894	p.Val141Ala	rs1442736321	missense variant	-	NC_000010.11:g.86899882T>C	gnomAD
BMPR1A	P36894	p.Val142Leu	RCV000689735	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899884G>C	ClinVar
BMPR1A	P36894	p.Ile143Leu	rs760739609	missense variant	-	NC_000010.11:g.86899887A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Leu	rs760739609	missense variant	-	NC_000010.11:g.86899887A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Val	rs760739609	missense variant	-	NC_000010.11:g.86899887A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Val	RCV000574707	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>G	ClinVar
BMPR1A	P36894	p.Ile143Leu	RCV000581072	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>C	ClinVar
BMPR1A	P36894	p.Gly144Arg	RCV000215661	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899890G>C	ClinVar
BMPR1A	P36894	p.Gly144Arg	rs876658573	missense variant	-	NC_000010.11:g.86899890G>C	-
BMPR1A	P36894	p.Pro145Leu	RCV000773372	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900030C>T	ClinVar
BMPR1A	P36894	p.Phe146Leu	RCV000687903	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900034T>G	ClinVar
BMPR1A	P36894	p.Phe146Ser	rs587778112	missense variant	-	NC_000010.11:g.86900033T>C	ExAC,gnomAD
BMPR1A	P36894	p.Phe146Val	rs1554889007	missense variant	-	NC_000010.11:g.86900032T>G	-
BMPR1A	P36894	p.Phe146Ser	RCV000120254	missense variant	-	NC_000010.11:g.86900033T>C	ClinVar
BMPR1A	P36894	p.Phe146Val	RCV000547539	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900032T>G	ClinVar
BMPR1A	P36894	p.Phe147Ser	rs371243894	missense variant	-	NC_000010.11:g.86900036T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Phe147Ser	RCV000572583	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900036T>C	ClinVar
BMPR1A	P36894	p.Phe147Ser	RCV000701918	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900036T>C	ClinVar
BMPR1A	P36894	p.Gly149Val	rs773689557	missense variant	-	NC_000010.11:g.86900042G>T	ExAC,gnomAD
BMPR1A	P36894	p.Ile151Thr	RCV000583785	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900048T>C	ClinVar
BMPR1A	P36894	p.Ile151Thr	rs1554889010	missense variant	-	NC_000010.11:g.86900048T>C	-
BMPR1A	P36894	p.Arg152Gly	RCV000574904	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>G	ClinVar
BMPR1A	P36894	p.Arg152Gln	rs567009904	missense variant	-	NC_000010.11:g.86900051G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg152Gly	rs1131691178	missense variant	-	NC_000010.11:g.86900050C>G	TOPMed
BMPR1A	P36894	p.Arg152Ter	rs1131691178	stop gained	-	NC_000010.11:g.86900050C>T	TOPMed
BMPR1A	P36894	p.Arg152Gln	RCV000564920	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900051G>A	ClinVar
BMPR1A	P36894	p.Arg152Gln	RCV000635472	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900051G>A	ClinVar
BMPR1A	P36894	p.Arg152Ter	RCV000494036	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>T	ClinVar
BMPR1A	P36894	p.Trp153Ter	RCV000493870	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900054G>A	ClinVar
BMPR1A	P36894	p.Trp153Ter	rs1131691176	stop gained	-	NC_000010.11:g.86900054G>A	-
BMPR1A	P36894	p.Leu157Arg	rs751260747	missense variant	-	NC_000010.11:g.86900066T>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile158Leu	RCV000691044	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900068A>C	ClinVar
BMPR1A	P36894	p.Ser159Pro	rs767157505	missense variant	-	NC_000010.11:g.86900071T>C	ExAC,gnomAD
BMPR1A	P36894	p.Ser159Pro	RCV000580150	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900071T>C	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000656783	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000129348	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	rs145101532	missense variant	-	NC_000010.11:g.86900074A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met160Val	RCV000763676	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000481297	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000205803	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Ala161Thr	rs1443649142	missense variant	-	NC_000010.11:g.86900077G>A	gnomAD
BMPR1A	P36894	p.Ala161Ter	RCV000493050	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900077del	ClinVar
BMPR1A	P36894	p.Ile164Val	rs142965096	missense variant	-	NC_000010.11:g.86900086A>G	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Ile164Val	RCV000573874	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900086A>G	ClinVar
BMPR1A	P36894	p.Ile165Met	rs763934014	missense variant	-	NC_000010.11:g.86900091T>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile165Thr	rs1260484420	missense variant	-	NC_000010.11:g.86900090T>C	gnomAD
BMPR1A	P36894	p.Ala166Thr	RCV000772204	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900092G>A	ClinVar
BMPR1A	P36894	p.Ala166Thr	RCV000635426	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900092G>A	ClinVar
BMPR1A	P36894	p.Ala166Thr	rs971636078	missense variant	-	NC_000010.11:g.86900092G>A	-
BMPR1A	P36894	p.Met167Val	RCV000493778	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>G	ClinVar
BMPR1A	P36894	p.Met167Leu	RCV000761022	missense variant	Craniopharyngioma	NC_000010.11:g.86900095A>T	ClinVar
BMPR1A	P36894	p.Met167Val	rs200951235	missense variant	-	NC_000010.11:g.86900095A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met167Leu	rs200951235	missense variant	-	NC_000010.11:g.86900095A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met167Leu	RCV000166911	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>T	ClinVar
BMPR1A	P36894	p.Ile168Met	rs778615896	missense variant	-	NC_000010.11:g.86900100C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile168Met	RCV000165557	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900100C>G	ClinVar
BMPR1A	P36894	p.Ile169Phe	RCV000226965	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Ile169Phe	rs878854668	missense variant	-	NC_000010.11:g.86900101A>T	gnomAD
BMPR1A	P36894	p.Ile169Val	rs878854668	missense variant	-	NC_000010.11:g.86900101A>G	gnomAD
BMPR1A	P36894	p.Ile169Phe	RCV000565550	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Ile169Phe	RCV000236060	missense variant	-	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Phe170Cys	rs555873943	missense variant	-	NC_000010.11:g.86900105T>G	1000Genomes
BMPR1A	P36894	p.Phe170Pro	RCV000608762	insertion	-	NC_000010.11:g.86900102_86900103insTCC	ClinVar
BMPR1A	P36894	p.Ser171Pro	rs377733546	missense variant	-	NC_000010.11:g.86900107T>C	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Ser171Cys	rs781286980	missense variant	-	NC_000010.11:g.86900108C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ser171Phe	RCV000775831	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900108C>T	ClinVar
BMPR1A	P36894	p.Cys173Trp	rs863224721	missense variant	-	NC_000010.11:g.86900115C>G	-
BMPR1A	P36894	p.Cys173Trp	RCV000573423	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900115C>G	ClinVar
BMPR1A	P36894	p.Cys173Trp	RCV000196338	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900115C>G	ClinVar
BMPR1A	P36894	p.Cys175Tyr	RCV000635417	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>A	ClinVar
BMPR1A	P36894	p.Cys175Tyr	rs370091063	missense variant	-	NC_000010.11:g.86900120G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Cys175Ser	rs370091063	missense variant	-	NC_000010.11:g.86900120G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Cys175Ser	RCV000214413	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>C	ClinVar
BMPR1A	P36894	p.Cys175Tyr	RCV000167415	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>A	ClinVar
BMPR1A	P36894	p.Cys175Ser	RCV000688030	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>C	ClinVar
BMPR1A	P36894	p.Tyr176His	RCV000772992	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900122T>C	ClinVar
BMPR1A	P36894	p.Tyr176Cys	RCV000635460	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900123A>G	ClinVar
BMPR1A	P36894	p.Tyr176Cys	rs1554889024	missense variant	-	NC_000010.11:g.86900123A>G	-
BMPR1A	P36894	p.Tyr176Ter	rs770387084	stop gained	-	NC_000010.11:g.86900124C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys181Arg	rs1446889676	missense variant	-	NC_000010.11:g.86912251A>G	TOPMed
BMPR1A	P36894	p.Ser182Asn	rs1341015567	missense variant	-	NC_000010.11:g.86912254G>A	gnomAD
BMPR1A	P36894	p.Ser184Leu	RCV000635438	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912260C>T	ClinVar
BMPR1A	P36894	p.Ser184Ter	rs1131691185	stop gained	-	NC_000010.11:g.86912260C>G	-
BMPR1A	P36894	p.Ser184Leu	rs1131691185	missense variant	-	NC_000010.11:g.86912260C>T	-
BMPR1A	P36894	p.Ser184Ter	RCV000494378	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912260C>G	ClinVar
BMPR1A	P36894	p.Ser185Cys	rs1554890203	missense variant	-	NC_000010.11:g.86912262A>T	-
BMPR1A	P36894	p.Ser185Cys	RCV000564854	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912262A>T	ClinVar
BMPR1A	P36894	p.Arg187Cys	rs587782231	missense variant	-	NC_000010.11:g.86912268C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg187His	rs189059377	missense variant	-	NC_000010.11:g.86912269G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg187His	RCV000479869	missense variant	-	NC_000010.11:g.86912269G>A	ClinVar
BMPR1A	P36894	p.Arg187Cys	RCV000130928	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912268C>T	ClinVar
BMPR1A	P36894	p.Arg187Cys	RCV000458724	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912268C>T	ClinVar
BMPR1A	P36894	p.Arg188Cys	RCV000491978	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912271C>T	ClinVar
BMPR1A	P36894	p.Arg188Cys	rs879254272	missense variant	-	NC_000010.11:g.86912271C>T	gnomAD
BMPR1A	P36894	p.Arg188His	rs749780872	missense variant	-	NC_000010.11:g.86912272G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg188His	RCV000221059	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912272G>A	ClinVar
BMPR1A	P36894	p.Arg188His	RCV000206361	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912272G>A	ClinVar
BMPR1A	P36894	p.Tyr189Ter	RCV000692187	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912275dup	ClinVar
BMPR1A	P36894	p.Tyr189Ter	RCV000554511	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912276C>A	ClinVar
BMPR1A	P36894	p.Tyr189His	RCV000777557	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912274T>C	ClinVar
BMPR1A	P36894	p.Tyr189His	RCV000805843	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912274T>C	ClinVar
BMPR1A	P36894	p.Tyr189Ter	rs1554890213	stop gained	-	NC_000010.11:g.86912276C>A	-
BMPR1A	P36894	p.Asn190Ser	rs574229174	missense variant	-	NC_000010.11:g.86912278A>G	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Asn190Asp	rs771444196	missense variant	-	NC_000010.11:g.86912277A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn190Ile	rs574229174	missense variant	-	NC_000010.11:g.86912278A>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Asn190Ser	RCV000123225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912278A>G	ClinVar
BMPR1A	P36894	p.Asn190Ser	RCV000167437	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912278A>G	ClinVar
BMPR1A	P36894	p.Arg191Cys	RCV000580053	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912280C>T	ClinVar
BMPR1A	P36894	p.Arg191Cys	rs1053423400	missense variant	-	NC_000010.11:g.86912280C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg191His	rs746231785	missense variant	-	NC_000010.11:g.86912281G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg191Cys	RCV000635416	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912280C>T	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000543581	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000573990	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000482512	missense variant	-	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Leu193Ter	RCV000532814	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912287dup	ClinVar
BMPR1A	P36894	p.Leu193Phe	RCV000457968	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912288G>C	ClinVar
BMPR1A	P36894	p.Leu193Phe	rs1060503404	missense variant	-	NC_000010.11:g.86912288G>C	-
BMPR1A	P36894	p.Gln195Leu	rs775295628	missense variant	-	NC_000010.11:g.86912293A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Lys	rs771910503	missense variant	-	NC_000010.11:g.86912292C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Lys	RCV000586948	missense variant	-	NC_000010.11:g.86912292C>A	ClinVar
BMPR1A	P36894	p.Gln195Arg	rs775295628	missense variant	-	NC_000010.11:g.86912293A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Arg	RCV000575488	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912293A>G	ClinVar
BMPR1A	P36894	p.Gln195Lys	RCV000206242	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912292C>A	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000473381	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000484852	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	rs141608069	missense variant	-	NC_000010.11:g.86912296A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp196Gly	RCV000766536	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000777241	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Glu197Ala	rs763548019	missense variant	-	NC_000010.11:g.86912299A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ala198Glu	rs776160961	missense variant	-	NC_000010.11:g.86912302C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala198Val	RCV000777614	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912302C>T	ClinVar
BMPR1A	P36894	p.Phe199Ile	rs1297422277	missense variant	-	NC_000010.11:g.86912304T>A	gnomAD
BMPR1A	P36894	p.Val202Phe	RCV000227718	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912313G>T	ClinVar
BMPR1A	P36894	p.Val202Ala	rs879254158	missense variant	-	NC_000010.11:g.86912314T>C	-
BMPR1A	P36894	p.Val202Ala	RCV000235959	missense variant	-	NC_000010.11:g.86912314T>C	ClinVar
BMPR1A	P36894	p.Val202Phe	rs878854670	missense variant	-	NC_000010.11:g.86912313G>T	-
BMPR1A	P36894	p.Gly203Glu	rs587782748	missense variant	-	NC_000010.11:g.86912317G>A	gnomAD
BMPR1A	P36894	p.Gly203Glu	RCV000132254	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912317G>A	ClinVar
BMPR1A	P36894	p.Leu206Val	RCV000479389	missense variant	-	NC_000010.11:g.86912325C>G	ClinVar
BMPR1A	P36894	p.Leu206Val	rs1064793512	missense variant	-	NC_000010.11:g.86912325C>G	-
BMPR1A	P36894	p.Lys207Arg	rs1554890228	missense variant	-	NC_000010.11:g.86912329A>G	-
BMPR1A	P36894	p.Lys207Arg	RCV000507885	missense variant	-	NC_000010.11:g.86912329A>G	ClinVar
BMPR1A	P36894	p.Leu209Phe	rs1334589004	missense variant	-	NC_000010.11:g.86912334C>T	gnomAD
BMPR1A	P36894	p.Ile210Thr	rs730881432	missense variant	-	NC_000010.11:g.86912338T>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile210Val	rs750274275	missense variant	-	NC_000010.11:g.86912337A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile210Thr	RCV000772717	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000796745	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000159836	missense variant	-	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Val	RCV000562215	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912337A>G	ClinVar
BMPR1A	P36894	p.Gln212Lys	RCV000635471	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln212Glu	rs876658138	missense variant	-	NC_000010.11:g.86912343C>G	TOPMed,gnomAD
BMPR1A	P36894	p.Gln212Lys	rs876658138	missense variant	-	NC_000010.11:g.86912343C>A	TOPMed,gnomAD
BMPR1A	P36894	p.Gln212Lys	RCV000217755	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln212Lys	RCV000480249	missense variant	-	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln214Lys	rs1305429176	missense variant	-	NC_000010.11:g.86912349C>A	gnomAD
BMPR1A	P36894	p.Gln214Lys	RCV000582831	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912349C>A	ClinVar
BMPR1A	P36894	p.Gln214Lys	RCV000691450	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912349C>A	ClinVar
BMPR1A	P36894	p.Ser215Asn	RCV000575085	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912353G>A	ClinVar
BMPR1A	P36894	p.Ser215Asn	rs1554890233	missense variant	-	NC_000010.11:g.86912353G>A	-
BMPR1A	P36894	p.Gly217Cys	rs766093107	missense variant	-	NC_000010.11:g.86912358G>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Asn	rs752893921	missense variant	-	NC_000010.11:g.86912362G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Thr	rs752893921	missense variant	-	NC_000010.11:g.86912362G>C	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Gly	RCV000700647	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912361A>G	ClinVar
BMPR1A	P36894	p.Gly219Glu	RCV000230480	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912365G>A	ClinVar
BMPR1A	P36894	p.Gly219Glu	rs878854671	missense variant	-	NC_000010.11:g.86912365G>A	-
BMPR1A	P36894	p.Gly221Glu	RCV000776724	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912371G>A	ClinVar
BMPR1A	P36894	p.Leu224Ile	rs756310331	missense variant	-	NC_000010.11:g.86912379T>A	ExAC,gnomAD
BMPR1A	P36894	p.Leu225Ter	RCV000693404	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912383del	ClinVar
BMPR1A	P36894	p.Val226Ile	RCV000777011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>A	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000123228	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	rs587780110	missense variant	-	NC_000010.11:g.86917134G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val226Phe	RCV000515164	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000656784	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000115829	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000561750	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Arg228Gln	rs747371306	missense variant	-	NC_000010.11:g.86917141G>A	ExAC,gnomAD
BMPR1A	P36894	p.Arg228Ter	rs587782682	stop gained	-	NC_000010.11:g.86917140C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg228Ter	RCV000475579	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917140C>T	ClinVar
BMPR1A	P36894	p.Arg228Ter	RCV000132109	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917140C>T	ClinVar
BMPR1A	P36894	p.Ile230Val	rs730881433	missense variant	-	NC_000010.11:g.86917146A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile230Val	RCV000159837	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
BMPR1A	P36894	p.Ile230Val	RCV000779845	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
BMPR1A	P36894	p.Ala231Thr	rs1161175030	missense variant	-	NC_000010.11:g.86917149G>A	gnomAD
BMPR1A	P36894	p.Lys232Arg	rs587781341	missense variant	-	NC_000010.11:g.86917153A>G	gnomAD
BMPR1A	P36894	p.Lys232Arg	RCV000129114	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917153A>G	ClinVar
BMPR1A	P36894	p.Lys232Glu	RCV000773688	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917152A>G	ClinVar
BMPR1A	P36894	p.Gln233Ter	RCV000522325	nonsense	-	NC_000010.11:g.86917155C>T	ClinVar
BMPR1A	P36894	p.Gln233Ter	rs1554890743	stop gained	-	NC_000010.11:g.86917155C>T	-
BMPR1A	P36894	p.Gln235Glu	RCV000635419	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917161C>G	ClinVar
BMPR1A	P36894	p.Gln235Glu	rs1554890745	missense variant	-	NC_000010.11:g.86917161C>G	-
BMPR1A	P36894	p.Met236Ile	RCV000695522	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917166G>A	ClinVar
BMPR1A	P36894	p.Met236Thr	rs1347027954	missense variant	-	NC_000010.11:g.86917165T>C	gnomAD
BMPR1A	P36894	p.Met236Val	rs1303164661	missense variant	-	NC_000010.11:g.86917164A>G	gnomAD
BMPR1A	P36894	p.Met236Thr	RCV000584676	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917165T>C	ClinVar
BMPR1A	P36894	p.Arg238Gln	RCV000129721	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917171G>A	ClinVar
BMPR1A	P36894	p.Arg238Gln	RCV000236672	missense variant	-	NC_000010.11:g.86917171G>A	ClinVar
BMPR1A	P36894	p.Arg238Gln	rs191742018	missense variant	-	NC_000010.11:g.86917171G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Gly	rs747728399	missense variant	-	NC_000010.11:g.86917170C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Trp	rs747728399	missense variant	-	NC_000010.11:g.86917170C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Gly	RCV000520400	missense variant	-	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Arg238Trp	RCV000564877	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>T	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000557396	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000581103	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Arg238Trp	RCV000635447	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>T	ClinVar
BMPR1A	P36894	p.Gln239Lys	rs199476084	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917173C>A	-
BMPR1A	P36894	p.Gln239Lys	RCV000583131	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917173C>A	ClinVar
BMPR1A	P36894	p.Gln239Ter	rs199476084	stop gained	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917173C>T	-
BMPR1A	P36894	p.Gln239Ter	RCV000008713	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917173C>T	ClinVar
BMPR1A	P36894	p.Val240Ile	RCV000470969	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917176G>A	ClinVar
BMPR1A	P36894	p.Val240Ile	rs1060503405	missense variant	-	NC_000010.11:g.86917176G>A	gnomAD
BMPR1A	P36894	p.Gly241Asp	rs1554890758	missense variant	-	NC_000010.11:g.86917180G>A	-
BMPR1A	P36894	p.Gly241Ser	rs1226033707	missense variant	-	NC_000010.11:g.86917179G>A	gnomAD
BMPR1A	P36894	p.Gly241Asp	RCV000560943	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917180G>A	ClinVar
BMPR1A	P36894	p.Gly241Ser	RCV000566364	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917179G>A	ClinVar
BMPR1A	P36894	p.Lys242Arg	rs762926637	missense variant	-	NC_000010.11:g.86917183A>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys242Arg	RCV000580544	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917183A>G	ClinVar
BMPR1A	P36894	p.Arg244Ter	rs759363072	stop gained	-	NC_000010.11:g.86917188C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gly	rs759363072	missense variant	-	NC_000010.11:g.86917188C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gln	rs147971049	missense variant	-	NC_000010.11:g.86917189G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gln	RCV000472993	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189G>A	ClinVar
BMPR1A	P36894	p.Arg244Gln	RCV000567827	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917189G>A	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000481831	nonsense	-	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000850053	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000686857	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000231232	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Tyr245Asn	rs369012159	missense variant	-	NC_000010.11:g.86917191T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr245Asn	RCV000589200	missense variant	-	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Tyr245Ter	RCV000635449	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189dup	ClinVar
BMPR1A	P36894	p.Tyr245Ter	RCV000494258	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917193T>G	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000130665	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Met250Ile	RCV000758778	missense variant	-	NC_000010.11:g.86917208G>A	ClinVar
BMPR1A	P36894	p.Met250Leu	rs762087997	missense variant	-	NC_000010.11:g.86917206A>T	ExAC,gnomAD
BMPR1A	P36894	p.Met250Thr	rs587780783	missense variant	-	NC_000010.11:g.86917207T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met250Thr	RCV000586264	missense variant	-	NC_000010.11:g.86917207T>C	ClinVar
BMPR1A	P36894	p.Gly251Asp	RCV000573680	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917210G>A	ClinVar
BMPR1A	P36894	p.Gly251Cys	rs750513716	missense variant	-	NC_000010.11:g.86917209G>T	ExAC,gnomAD
BMPR1A	P36894	p.Gly251Asp	rs1554890768	missense variant	-	NC_000010.11:g.86917210G>A	-
BMPR1A	P36894	p.Gly251Cys	RCV000545911	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Gly251Cys	RCV000569001	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Gly251Cys	RCV000587600	missense variant	-	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Lys252Arg	rs1554890769	missense variant	-	NC_000010.11:g.86917213A>G	-
BMPR1A	P36894	p.Lys252Arg	RCV000635454	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917213A>G	ClinVar
BMPR1A	P36894	p.Arg254Cys	RCV000200056	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Cys	RCV000515265	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Leu	rs766908700	missense variant	-	NC_000010.11:g.86917219G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Pro	rs766908700	missense variant	-	NC_000010.11:g.86917219G>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Cys	rs587782578	missense variant	-	NC_000010.11:g.86917218C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254His	rs766908700	missense variant	-	NC_000010.11:g.86917219G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Cys	RCV000484680	missense variant	-	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Leu	RCV000218230	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>T	ClinVar
BMPR1A	P36894	p.Arg254Pro	RCV000569876	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>C	ClinVar
BMPR1A	P36894	p.Arg254His	RCV000461599	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917219G>A	ClinVar
BMPR1A	P36894	p.Glu256Lys	rs755372473	missense variant	-	NC_000010.11:g.86917224G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys257Glu	rs1554890784	missense variant	-	NC_000010.11:g.86917227A>G	-
BMPR1A	P36894	p.Lys257Glu	RCV000575124	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917227A>G	ClinVar
BMPR1A	P36894	p.Val258Ter	RCV000227192	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917229del	ClinVar
BMPR1A	P36894	p.Ala259Val	RCV000576012	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917234C>T	ClinVar
BMPR1A	P36894	p.Ala259Val	rs905457708	missense variant	-	NC_000010.11:g.86917234C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Ala259Val	RCV000587159	missense variant	-	NC_000010.11:g.86917234C>T	ClinVar
BMPR1A	P36894	p.Val260Gly	rs755740570	missense variant	-	NC_000010.11:g.86917237T>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys261Glu	rs777305118	missense variant	-	NC_000010.11:g.86917239A>G	ExAC,gnomAD
BMPR1A	P36894	p.Val262Glu	rs770830310	missense variant	-	NC_000010.11:g.86917243T>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Ala	rs770830310	missense variant	-	NC_000010.11:g.86917243T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Gly	rs770830310	missense variant	-	NC_000010.11:g.86917243T>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Ile	rs748790017	missense variant	-	NC_000010.11:g.86917242G>A	ExAC,TOPMed
BMPR1A	P36894	p.Val262Ala	RCV000466256	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Val262Ala	RCV000573612	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Val262Ala	RCV000679550	missense variant	-	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Phe264Ser	rs775377247	missense variant	-	NC_000010.11:g.86917249T>C	ExAC,gnomAD
BMPR1A	P36894	p.Thr265Ile	RCV000483613	missense variant	-	NC_000010.11:g.86917252C>T	ClinVar
BMPR1A	P36894	p.Thr265Ile	rs1064793937	missense variant	-	NC_000010.11:g.86917252C>T	-
BMPR1A	P36894	p.Thr266Ser	RCV000567379	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917255C>G	ClinVar
BMPR1A	P36894	p.Thr266Ser	rs1554890797	missense variant	-	NC_000010.11:g.86917255C>G	-
BMPR1A	P36894	p.Thr266Ala	rs1273972467	missense variant	-	NC_000010.11:g.86917254A>G	gnomAD
BMPR1A	P36894	p.Trp271Ter	rs199476085	stop gained	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917270G>A	-
BMPR1A	P36894	p.Trp271Ter	RCV000008714	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917270G>A	ClinVar
BMPR1A	P36894	p.Arg273Gln	rs762178061	missense variant	-	NC_000010.11:g.86917276G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg273Ter	rs587782400	stop gained	-	NC_000010.11:g.86917275C>T	-
BMPR1A	P36894	p.Arg273Ter	RCV000229057	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Arg273Ter	RCV000482559	nonsense	-	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Arg273Ter	RCV000131433	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Glu276Ter	RCV000705148	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917284_86917285del	ClinVar
BMPR1A	P36894	p.Glu276Ter	RCV000130286	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917284_86917285del	ClinVar
BMPR1A	P36894	p.Ile277Val	RCV000460344	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917287A>G	ClinVar
BMPR1A	P36894	p.Ile277Val	rs1060503400	missense variant	-	NC_000010.11:g.86917287A>G	-
BMPR1A	P36894	p.Tyr278Ter	RCV000560723	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917292C>A	ClinVar
BMPR1A	P36894	p.Tyr278Ter	rs1230919713	stop gained	-	NC_000010.11:g.86917292C>A	gnomAD
BMPR1A	P36894	p.Gln279Pro	rs1469597503	missense variant	-	NC_000010.11:g.86917294A>C	gnomAD
BMPR1A	P36894	p.Thr280Ser	RCV000812306	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917297C>G	ClinVar
BMPR1A	P36894	p.Thr280Ser	rs1064793497	missense variant	-	NC_000010.11:g.86917297C>G	gnomAD
BMPR1A	P36894	p.Thr280Ser	RCV000485913	missense variant	-	NC_000010.11:g.86917297C>G	ClinVar
BMPR1A	P36894	p.Val281Met	rs141625907	missense variant	-	NC_000010.11:g.86917299G>A	ESP
BMPR1A	P36894	p.Val281Met	RCV000493216	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917299G>A	ClinVar
BMPR1A	P36894	p.Leu282Pro	rs1386615932	missense variant	-	NC_000010.11:g.86917303T>C	gnomAD
BMPR1A	P36894	p.Met283Ter	RCV000686579	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917305dup	ClinVar
BMPR1A	P36894	p.Arg284Cys	rs765530074	missense variant	-	NC_000010.11:g.86917308C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg284Gly	rs765530074	missense variant	-	NC_000010.11:g.86917308C>G	ExAC,gnomAD
BMPR1A	P36894	p.Arg284Cys	RCV000230699	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917308C>T	ClinVar
BMPR1A	P36894	p.Arg284Cys	RCV000771718	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917308C>T	ClinVar
BMPR1A	P36894	p.His285Asn	rs1162302623	missense variant	-	NC_000010.11:g.86917311C>A	gnomAD
BMPR1A	P36894	p.Asn287Tyr	rs763135904	missense variant	-	NC_000010.11:g.86917317A>T	ExAC,gnomAD
BMPR1A	P36894	p.Ile288Met	RCV000708675	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917322A>G	ClinVar
BMPR1A	P36894	p.Leu289Ter	RCV000635448	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917322dup	ClinVar
BMPR1A	P36894	p.Gly290Ala	RCV000213715	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919172G>C	ClinVar
BMPR1A	P36894	p.Gly290Ala	rs876660596	missense variant	-	NC_000010.11:g.86919172G>C	-
BMPR1A	P36894	p.Gly290Ala	RCV000815608	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919172G>C	ClinVar
BMPR1A	P36894	p.Ile292Ter	RCV000567580	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919177dup	ClinVar
BMPR1A	P36894	p.Ile292Val	rs746800007	missense variant	-	NC_000010.11:g.86919177A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp295GlySerTerArgUnk	rs876659988	stop gained	-	NC_000010.11:g.86919187delinsGTTCATAGCGG	-
BMPR1A	P36894	p.Asp295GlySerTer	RCV000222176	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919187delinsGTTCATAGCGG	ClinVar
BMPR1A	P36894	p.Ile296Val	rs1554891019	missense variant	-	NC_000010.11:g.86919189A>G	-
BMPR1A	P36894	p.Ile296Thr	rs1554891022	missense variant	-	NC_000010.11:g.86919190T>C	-
BMPR1A	P36894	p.Ile296Val	RCV000527955	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919189A>G	ClinVar
BMPR1A	P36894	p.Ile296Thr	RCV000635478	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919190T>C	ClinVar
BMPR1A	P36894	p.Gly298Ser	RCV000758780	missense variant	-	NC_000010.11:g.86919195G>A	ClinVar
BMPR1A	P36894	p.Thr299Arg	RCV000581360	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919199C>G	ClinVar
BMPR1A	P36894	p.Thr299Ala	rs876660756	missense variant	-	NC_000010.11:g.86919198A>G	-
BMPR1A	P36894	p.Thr299Arg	rs1219651963	missense variant	-	NC_000010.11:g.86919199C>G	TOPMed
BMPR1A	P36894	p.Thr299Lys	rs1219651963	missense variant	-	NC_000010.11:g.86919199C>A	TOPMed
BMPR1A	P36894	p.Thr299Ala	RCV000221198	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919198A>G	ClinVar
BMPR1A	P36894	p.Gly300Arg	rs763040797	missense variant	-	NC_000010.11:g.86919201G>C	ExAC,gnomAD
BMPR1A	P36894	p.Gly300Ser	rs763040797	missense variant	-	NC_000010.11:g.86919201G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ser301Tyr	RCV000217554	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919205C>A	ClinVar
BMPR1A	P36894	p.Ser301Tyr	rs876660939	missense variant	-	NC_000010.11:g.86919205C>A	TOPMed,gnomAD
BMPR1A	P36894	p.Ser301Thr	rs983870066	missense variant	-	NC_000010.11:g.86919204T>A	TOPMed
BMPR1A	P36894	p.Ser301Tyr	RCV000533725	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919205C>A	ClinVar
BMPR1A	P36894	p.Thr303Ala	RCV000796584	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919210A>G	ClinVar
BMPR1A	P36894	p.Thr303Ala	RCV000582620	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919210A>G	ClinVar
BMPR1A	P36894	p.Thr303Ala	rs1554891025	missense variant	-	NC_000010.11:g.86919210A>G	-
BMPR1A	P36894	p.Gln304Lys	RCV000548904	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>A	ClinVar
BMPR1A	P36894	p.Gln304Ter	rs1404557708	stop gained	-	NC_000010.11:g.86919213C>T	gnomAD
BMPR1A	P36894	p.Gln304Arg	RCV000159838	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Arg	RCV000411865	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Arg	rs730881434	missense variant	-	NC_000010.11:g.86919214A>G	ExAC,gnomAD
BMPR1A	P36894	p.Gln304Lys	rs1404557708	missense variant	-	NC_000010.11:g.86919213C>A	gnomAD
BMPR1A	P36894	p.Gln304Ter	RCV000635424	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>T	ClinVar
BMPR1A	P36894	p.Gln304Arg	RCV000766554	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Leu305Arg	rs1453306253	missense variant	-	NC_000010.11:g.86919217T>G	gnomAD
BMPR1A	P36894	p.Tyr306Cys	RCV000464837	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220A>G	ClinVar
BMPR1A	P36894	p.Tyr306Cys	rs955604329	missense variant	-	NC_000010.11:g.86919220A>G	gnomAD
BMPR1A	P36894	p.Ile308Ter	RCV000459435	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220_86919223dup	ClinVar
BMPR1A	P36894	p.Thr309Ser	rs1276976514	missense variant	-	NC_000010.11:g.86919229C>G	TOPMed
BMPR1A	P36894	p.Thr309Ser	RCV000583398	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919229C>G	ClinVar
BMPR1A	P36894	p.His312Tyr	rs1437385150	missense variant	-	NC_000010.11:g.86919237C>T	TOPMed
BMPR1A	P36894	p.His312Ter	RCV000466694	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919237del	ClinVar
BMPR1A	P36894	p.Asn314Ser	RCV000694892	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919244A>G	ClinVar
BMPR1A	P36894	p.Asn314Ser	RCV000758781	missense variant	-	NC_000010.11:g.86919244A>G	ClinVar
BMPR1A	P36894	p.Gly315Ter	rs730881435	stop gained	-	NC_000010.11:g.86919246G>T	gnomAD
BMPR1A	P36894	p.Gly315Arg	RCV000463009	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Gly315Arg	rs730881435	missense variant	-	NC_000010.11:g.86919246G>A	gnomAD
BMPR1A	P36894	p.Gly315Arg	RCV000159839	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Gly315Arg	RCV000235117	missense variant	-	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Ser316Thr	RCV000635452	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919249T>A	ClinVar
BMPR1A	P36894	p.Ser316Thr	rs1554891039	missense variant	-	NC_000010.11:g.86919249T>A	-
BMPR1A	P36894	p.Tyr318Ser	rs587778111	missense variant	-	NC_000010.11:g.86919256A>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr318Ser	RCV000775810	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>C	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000410175	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Cys	rs587778111	missense variant	-	NC_000010.11:g.86919256A>G	ExAC,gnomAD
BMPR1A	P36894	p.Tyr318Cys	RCV000120250	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Ser	RCV000462820	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>C	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000656785	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000567105	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Phe320Ter	RCV000527295	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919260dup	ClinVar
BMPR1A	P36894	p.Phe320Ter	RCV000563459	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919264del	ClinVar
BMPR1A	P36894	p.Lys322Ter	RCV000492964	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919267A>T	ClinVar
BMPR1A	P36894	p.Lys322Ter	rs1131691167	stop gained	-	NC_000010.11:g.86919267A>T	gnomAD
BMPR1A	P36894	p.Lys322Gln	rs1131691167	missense variant	-	NC_000010.11:g.86919267A>C	gnomAD
BMPR1A	P36894	p.Cys323Ser	RCV000216595	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>A	ClinVar
BMPR1A	P36894	p.Cys323Arg	RCV000570171	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>C	ClinVar
BMPR1A	P36894	p.Cys323Tyr	rs187780646	missense variant	-	NC_000010.11:g.86919271G>A	1000Genomes,ExAC
BMPR1A	P36894	p.Cys323Ser	rs876660750	missense variant	-	NC_000010.11:g.86919270T>A	-
BMPR1A	P36894	p.Cys323Arg	RCV000457915	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919270T>C	ClinVar
BMPR1A	P36894	p.Cys323Arg	rs876660750	missense variant	-	NC_000010.11:g.86919270T>C	-
BMPR1A	P36894	p.Thr325Ala	RCV000777203	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919276A>G	ClinVar
BMPR1A	P36894	p.Thr325Ala	RCV000541894	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919276A>G	ClinVar
BMPR1A	P36894	p.Thr325Ala	rs1554891047	missense variant	-	NC_000010.11:g.86919276A>G	-
BMPR1A	P36894	p.Leu326Val	RCV000582761	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919279C>G	ClinVar
BMPR1A	P36894	p.Leu326Val	rs1554891050	missense variant	-	NC_000010.11:g.86919279C>G	-
BMPR1A	P36894	p.Asp327Gly	rs764376409	missense variant	-	NC_000010.11:g.86919283A>G	ExAC,gnomAD
BMPR1A	P36894	p.Thr328Ser	RCV000526492	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919286C>G	ClinVar
BMPR1A	P36894	p.Thr328Ser	rs1554891053	missense variant	-	NC_000010.11:g.86919286C>G	-
BMPR1A	P36894	p.Arg329Thr	rs1554891054	missense variant	-	NC_000010.11:g.86919289G>C	-
BMPR1A	P36894	p.Arg329Ser	rs753521037	missense variant	-	NC_000010.11:g.86919290A>C	ExAC,gnomAD
BMPR1A	P36894	p.Arg329Ser	RCV000465582	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Lys	RCV000779840	missense variant	-	NC_000010.11:g.86919289G>A	ClinVar
BMPR1A	P36894	p.Arg329Thr	RCV000541085	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919289G>C	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000588080	missense variant	-	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000561962	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Ter	RCV000657424	frameshift	-	NC_000010.11:g.86919290_86919295delinsTGTA	ClinVar
BMPR1A	P36894	p.Ala330Thr	RCV000456972	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919291G>A	ClinVar
BMPR1A	P36894	p.Ala330Thr	rs927151124	missense variant	-	NC_000010.11:g.86919291G>A	TOPMed
BMPR1A	P36894	p.Ala330Val	rs587782092	missense variant	-	NC_000010.11:g.86919292C>T	gnomAD
BMPR1A	P36894	p.Ala330Val	RCV000130601	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919292C>T	ClinVar
BMPR1A	P36894	p.Leu331Val	rs1554891064	missense variant	-	NC_000010.11:g.86919294C>G	-
BMPR1A	P36894	p.Leu331Val	RCV000580998	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919294C>G	ClinVar
BMPR1A	P36894	p.Leu332Pro	RCV000584023	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919298T>C	ClinVar
BMPR1A	P36894	p.Leu332Pro	rs1064793886	missense variant	-	NC_000010.11:g.86919298T>C	gnomAD
BMPR1A	P36894	p.Leu332Pro	RCV000484515	missense variant	-	NC_000010.11:g.86919298T>C	ClinVar
BMPR1A	P36894	p.Lys333Asn	rs1480528360	missense variant	-	NC_000010.11:g.86919302A>T	TOPMed,gnomAD
BMPR1A	P36894	p.Leu334Ser	rs915929375	missense variant	-	NC_000010.11:g.86919304T>C	TOPMed
BMPR1A	P36894	p.Leu334Met	rs749873461	missense variant	-	NC_000010.11:g.86919303T>A	ExAC,gnomAD
BMPR1A	P36894	p.Tyr336His	rs876658840	missense variant	-	NC_000010.11:g.86919309T>C	-
BMPR1A	P36894	p.Tyr336His	RCV000216334	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919309T>C	ClinVar
BMPR1A	P36894	p.Ser337Ter	RCV000569696	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>A	ClinVar
BMPR1A	P36894	p.Ser337Leu	RCV000582821	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>T	ClinVar
BMPR1A	P36894	p.Ala338Val	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>T	TOPMed
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt,dbSNP
BMPR1A	P36894	p.Ala338Asp	VAR_015534	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>A	TOPMed
BMPR1A	P36894	p.Ala338Asp	RCV000566713	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919316C>A	ClinVar
BMPR1A	P36894	p.Ala339Thr	rs758432395	missense variant	-	NC_000010.11:g.86919318G>A	ExAC,gnomAD
BMPR1A	P36894	p.Gly341Ser	RCV000562882	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>A	ClinVar
BMPR1A	P36894	p.Gly341Asp	RCV000703322	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919325G>A	ClinVar
BMPR1A	P36894	p.Gly341Cys	RCV000564091	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>T	ClinVar
BMPR1A	P36894	p.His346Arg	rs587782536	missense variant	-	NC_000010.11:g.86919340A>G	-
BMPR1A	P36894	p.His346Arg	RCV000131740	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919340A>G	ClinVar
BMPR1A	P36894	p.Glu348Asp	RCV000579475	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919347A>C	ClinVar
BMPR1A	P36894	p.Glu348Gln	RCV000472607	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919345G>C	ClinVar
BMPR1A	P36894	p.Glu348Gln	rs1060503398	missense variant	-	NC_000010.11:g.86919345G>C	-
BMPR1A	P36894	p.Glu348Asp	rs781082609	missense variant	-	NC_000010.11:g.86919347A>C	ExAC,gnomAD
BMPR1A	P36894	p.Glu348Asp	rs781082609	missense variant	-	NC_000010.11:g.86919347A>T	ExAC,gnomAD
BMPR1A	P36894	p.Glu348Asp	RCV000548785	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919347A>T	ClinVar
BMPR1A	P36894	p.Tyr350His	rs749571434	missense variant	-	NC_000010.11:g.86919351T>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr350His	RCV000759474	missense variant	-	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Tyr350His	RCV000575787	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Tyr350His	RCV000820356	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Gln353Arg	RCV000580162	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361A>G	ClinVar
BMPR1A	P36894	p.Gln353Arg	RCV000527621	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919361A>G	ClinVar
BMPR1A	P36894	p.Gln353Arg	rs1405441693	missense variant	-	NC_000010.11:g.86919361A>G	TOPMed
BMPR1A	P36894	p.Gly354Ter	RCV000493671	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361_86919362dup	ClinVar
BMPR1A	P36894	p.Gly354Ala	rs1406950391	missense variant	-	NC_000010.11:g.86919364G>C	gnomAD
BMPR1A	P36894	p.Gly354Ter	RCV000569032	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919364del	ClinVar
BMPR1A	P36894	p.Lys355Ter	RCV000776619	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919368del	ClinVar
BMPR1A	P36894	p.Pro356Ser	rs774555805	missense variant	-	NC_000010.11:g.86919369C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro356Ser	RCV000572363	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919369C>T	ClinVar
BMPR1A	P36894	p.Ala357Ser	rs201509164	missense variant	-	NC_000010.11:g.86919372G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala357Thr	rs201509164	missense variant	-	NC_000010.11:g.86919372G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala357Thr	RCV000478306	missense variant	-	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Ala357Thr	RCV000567914	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Ala357Thr	RCV000461013	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Arg361Gln	rs730881436	missense variant	-	NC_000010.11:g.86919385G>A	-
BMPR1A	P36894	p.Arg361Gly	rs764466442	missense variant	-	NC_000010.11:g.86919384C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg361Ter	rs764466442	stop gained	-	NC_000010.11:g.86919384C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg361Gly	RCV000579633	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>G	ClinVar
BMPR1A	P36894	p.Arg361Ter	RCV000162430	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>T	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000159840	missense variant	-	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000530820	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000772718	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Ter	RCV000461272	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919384C>T	ClinVar
BMPR1A	P36894	p.Asp362Asn	RCV000693269	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919387G>A	ClinVar
BMPR1A	P36894	p.Asp362Asn	RCV000772196	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919387G>A	ClinVar
BMPR1A	P36894	p.Lys366Arg	RCV000773788	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919400A>G	ClinVar
BMPR1A	P36894	p.Lys366Asn	rs1060503397	missense variant	-	NC_000010.11:g.86919401A>C	-
BMPR1A	P36894	p.Lys366Asn	RCV000467828	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919401A>C	ClinVar
BMPR1A	P36894	p.Lys366Asn	RCV000759475	missense variant	-	NC_000010.11:g.86919401A>C	ClinVar
BMPR1A	P36894	p.Asn367Ter	RCV000563858	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919404del	ClinVar
BMPR1A	P36894	p.Lys371Thr	rs1490421596	missense variant	-	NC_000010.11:g.86919415A>C	gnomAD
BMPR1A	P36894	p.Lys372Glu	rs1315674155	missense variant	-	NC_000010.11:g.86919417A>G	TOPMed
BMPR1A	P36894	p.Asn373Ser	rs1281108621	missense variant	-	NC_000010.11:g.86919421A>G	TOPMed
BMPR1A	P36894	p.Cys376Ser	RCV000772243	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919429T>A	ClinVar
BMPR1A	P36894	p.Cys376Trp	RCV000493424	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919431C>G	ClinVar
BMPR1A	P36894	p.Cys376Trp	rs1131691177	missense variant	-	NC_000010.11:g.86919431C>G	-
BMPR1A	P36894	p.Cys376Tyr	rs199476088	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919430G>A	-
BMPR1A	P36894	p.Cys376Tyr	rs199476088	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt,dbSNP
BMPR1A	P36894	p.Cys376Tyr	VAR_015535	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt
BMPR1A	P36894	p.Cys376Tyr	RCV000008718	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	ClinVar
BMPR1A	P36894	p.Leu381Val	RCV000478590	missense variant	-	NC_000010.11:g.86919444C>G	ClinVar
BMPR1A	P36894	p.Leu381Val	RCV000206145	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919444C>G	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000563011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000779842	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	rs1060503396	missense variant	-	NC_000010.11:g.86919456G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Val385Ile	RCV000472543	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000759476	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Ser389Ile	RCV000565079	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919469G>T	ClinVar
BMPR1A	P36894	p.Ser389Ile	RCV000541560	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>T	ClinVar
BMPR1A	P36894	p.Ser389Arg	RCV000696953	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921520T>G	ClinVar
BMPR1A	P36894	p.Ser389Ile	rs879254049	missense variant	-	NC_000010.11:g.86919469G>T	TOPMed,gnomAD
BMPR1A	P36894	p.Ser389Asn	rs879254049	missense variant	-	NC_000010.11:g.86919469G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Ser389Asn	RCV000477534	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>A	ClinVar
BMPR1A	P36894	p.Ser389Asn	RCV000236250	missense variant	-	NC_000010.11:g.86919469G>A	ClinVar
BMPR1A	P36894	p.Asp390Asn	RCV000486499	missense variant	-	NC_000010.11:g.86921521G>A	ClinVar
BMPR1A	P36894	p.Asp390Asn	rs1064794827	missense variant	-	NC_000010.11:g.86921521G>A	-
BMPR1A	P36894	p.Thr391Ser	RCV000556248	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921524A>T	ClinVar
BMPR1A	P36894	p.Thr391Ser	rs1554891310	missense variant	-	NC_000010.11:g.86921524A>T	-
BMPR1A	P36894	p.Asn392Ser	rs1554891311	missense variant	-	NC_000010.11:g.86921528A>G	-
BMPR1A	P36894	p.Asn392Ser	RCV000583018	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921528A>G	ClinVar
BMPR1A	P36894	p.Asn392Ser	RCV000522509	missense variant	-	NC_000010.11:g.86921528A>G	ClinVar
BMPR1A	P36894	p.Val396Met	rs1161972977	missense variant	-	NC_000010.11:g.86921539G>A	gnomAD
BMPR1A	P36894	p.Pro397Leu	rs878854662	missense variant	-	NC_000010.11:g.86921543C>T	-
BMPR1A	P36894	p.Pro397Arg	RCV000780964	missense variant	-	NC_000010.11:g.86921543C>G	ClinVar
BMPR1A	P36894	p.Pro397Leu	RCV000228257	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921543C>T	ClinVar
BMPR1A	P36894	p.Asn399Ser	RCV000560017	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921549A>G	ClinVar
BMPR1A	P36894	p.Asn399Asp	RCV000563262	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921548A>G	ClinVar
BMPR1A	P36894	p.Asn399Asp	rs1554891313	missense variant	-	NC_000010.11:g.86921548A>G	-
BMPR1A	P36894	p.Asn399Ser	rs1554891315	missense variant	-	NC_000010.11:g.86921549A>G	-
BMPR1A	P36894	p.Thr400Asn	RCV000635453	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921552C>A	ClinVar
BMPR1A	P36894	p.Thr400Asn	rs1554891317	missense variant	-	NC_000010.11:g.86921552C>A	-
BMPR1A	P36894	p.Val402Gly	rs1298646773	missense variant	-	NC_000010.11:g.86921558T>G	gnomAD
BMPR1A	P36894	p.Val402Met	rs1462602717	missense variant	-	NC_000010.11:g.86921557G>A	gnomAD
BMPR1A	P36894	p.Lys405Asn	RCV000590666	missense variant	-	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Arg	RCV000692348	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921567A>G	ClinVar
BMPR1A	P36894	p.Lys405Asn	rs587781522	missense variant	-	NC_000010.11:g.86921568A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys405Arg	rs1064795593	missense variant	-	NC_000010.11:g.86921567A>G	-
BMPR1A	P36894	p.Lys405Asn	RCV000129512	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Asn	RCV000409039	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Arg	RCV000483970	missense variant	-	NC_000010.11:g.86921567A>G	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000519920	missense variant	-	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406Cys	rs587781332	missense variant	-	NC_000010.11:g.86921569C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg406His	rs587780107	missense variant	-	NC_000010.11:g.86921570G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Arg406Leu	rs587780107	missense variant	-	NC_000010.11:g.86921570G>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg406His	RCV000561496	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406Leu	RCV000656727	missense variant	BMPR1A Skeletal Dysplasia Syndrome	NC_000010.11:g.86921570G>T	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000129084	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000679546	missense variant	-	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000635445	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000233959	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Tyr407Ter	rs1131691181	stop gained	-	NC_000010.11:g.86921574C>G	-
BMPR1A	P36894	p.Tyr407Cys	rs1554891322	missense variant	-	NC_000010.11:g.86921573A>G	-
BMPR1A	P36894	p.Tyr407Ter	RCV000779843	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921574C>G	ClinVar
BMPR1A	P36894	p.Tyr407Cys	RCV000568210	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921573A>G	ClinVar
BMPR1A	P36894	p.Ala409Thr	rs1554891324	missense variant	-	NC_000010.11:g.86921578G>A	-
BMPR1A	P36894	p.Ala409Thr	RCV000635421	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921578G>A	ClinVar
BMPR1A	P36894	p.Glu411Lys	RCV000463942	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921584G>A	ClinVar
BMPR1A	P36894	p.Glu411Lys	rs786202611	missense variant	-	NC_000010.11:g.86921584G>A	-
BMPR1A	P36894	p.Glu411Lys	RCV000165505	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921584G>A	ClinVar
BMPR1A	P36894	p.Val412Ala	rs576247658	missense variant	-	NC_000010.11:g.86921588T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val412Ala	RCV000589484	missense variant	-	NC_000010.11:g.86921588T>C	ClinVar
BMPR1A	P36894	p.Asp414Gly	rs1409093791	missense variant	-	NC_000010.11:g.86921594A>G	TOPMed
BMPR1A	P36894	p.Asp414Glu	rs767296986	missense variant	-	NC_000010.11:g.86921595C>G	gnomAD
BMPR1A	P36894	p.Asp414Asn	rs1554891329	missense variant	-	NC_000010.11:g.86921593G>A	-
BMPR1A	P36894	p.Asp414Asn	RCV000635451	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921593G>A	ClinVar
BMPR1A	P36894	p.Asp414Glu	RCV000580614	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921595C>G	ClinVar
BMPR1A	P36894	p.Asp414Glu	RCV000805463	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921595C>G	ClinVar
BMPR1A	P36894	p.Glu415Lys	rs140592056	missense variant	-	NC_000010.11:g.86921596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu415Asp	rs786204235	missense variant	-	NC_000010.11:g.86921598A>C	gnomAD
BMPR1A	P36894	p.Glu415Lys	RCV000120252	missense variant	-	NC_000010.11:g.86921596G>A	ClinVar
BMPR1A	P36894	p.Glu415Ter	RCV000484302	frameshift	-	NC_000010.11:g.86921596_86921597delinsTTTC	ClinVar
BMPR1A	P36894	p.Glu415Asp	RCV000168387	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Asp	RCV000587976	missense variant	-	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Asp	RCV000573444	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Ser416Asn	RCV000457437	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921600G>A	ClinVar
BMPR1A	P36894	p.Ser416Asn	rs1060503395	missense variant	-	NC_000010.11:g.86921600G>A	-
BMPR1A	P36894	p.Ser416Ter	RCV000571812	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598_86921599dup	ClinVar
BMPR1A	P36894	p.Leu417Val	RCV000685715	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921602C>G	ClinVar
BMPR1A	P36894	p.Asn420Lys	RCV000218661	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921613C>A	ClinVar
BMPR1A	P36894	p.Asn420Lys	rs876660798	missense variant	-	NC_000010.11:g.86921613C>A	TOPMed
BMPR1A	P36894	p.Asn420Ser	rs1478085865	missense variant	-	NC_000010.11:g.86921612A>G	TOPMed
BMPR1A	P36894	p.Asn420Lys	rs876660798	missense variant	-	NC_000010.11:g.86921613C>G	TOPMed
BMPR1A	P36894	p.His421Tyr	rs1554891338	missense variant	-	NC_000010.11:g.86921614C>T	-
BMPR1A	P36894	p.His421Tyr	RCV000635410	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921614C>T	ClinVar
BMPR1A	P36894	p.Gln423His	rs1198334501	missense variant	-	NC_000010.11:g.86921622G>T	gnomAD
BMPR1A	P36894	p.Pro424Ser	RCV000580537	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921623C>T	ClinVar
BMPR1A	P36894	p.Pro424Ser	rs201362537	missense variant	-	NC_000010.11:g.86921623C>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Pro424Ser	RCV000819098	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921623C>T	ClinVar
BMPR1A	P36894	p.Tyr425Phe	rs758599378	missense variant	-	NC_000010.11:g.86921627A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr425Phe	RCV000195582	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921627A>T	ClinVar
BMPR1A	P36894	p.Tyr425Phe	RCV000222403	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921627A>T	ClinVar
BMPR1A	P36894	p.Ile426Leu	RCV000459702	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>C	ClinVar
BMPR1A	P36894	p.Ile426Leu	RCV000564181	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921629A>C	ClinVar
BMPR1A	P36894	p.Ile426Val	rs780148965	missense variant	-	NC_000010.11:g.86921629A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile426Leu	rs780148965	missense variant	-	NC_000010.11:g.86921629A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile426Val	RCV000198104	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>G	ClinVar
BMPR1A	P36894	p.Met427Val	rs747090661	missense variant	-	NC_000010.11:g.86921632A>G	ExAC,gnomAD
BMPR1A	P36894	p.Met427Ile	rs769212314	missense variant	-	NC_000010.11:g.86921634G>A	ExAC,gnomAD
BMPR1A	P36894	p.Tyr431Cys	rs1554891343	missense variant	-	NC_000010.11:g.86921645A>G	-
BMPR1A	P36894	p.Tyr431Cys	RCV000569279	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921645A>G	ClinVar
BMPR1A	P36894	p.Gly434Ser	rs587780108	missense variant	-	NC_000010.11:g.86921653G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Gly434Ser	RCV000212149	missense variant	-	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Gly434Ser	RCV000476402	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Gly434Ser	RCV000115827	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Ile436Val	RCV000199311	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921659A>G	ClinVar
BMPR1A	P36894	p.Ile436Val	rs863224718	missense variant	-	NC_000010.11:g.86921659A>G	-
BMPR1A	P36894	p.Ile437Val	rs770073861	missense variant	-	NC_000010.11:g.86921662A>G	ExAC,gnomAD
BMPR1A	P36894	p.Trp438Ter	RCV000690555	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921667G>A	ClinVar
BMPR1A	P36894	p.Met440Ile	RCV000635466	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921673G>A	ClinVar
BMPR1A	P36894	p.Met440Val	rs1327393432	missense variant	-	NC_000010.11:g.86921671A>G	TOPMed
BMPR1A	P36894	p.Met440Ile	rs1554891352	missense variant	-	NC_000010.11:g.86921673G>A	-
BMPR1A	P36894	p.Met440Val	RCV000566385	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921671A>G	ClinVar
BMPR1A	P36894	p.Met440Val	RCV000797683	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921671A>G	ClinVar
BMPR1A	P36894	p.Ala441Val	RCV000704945	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921675C>T	ClinVar
BMPR1A	P36894	p.Ala441Ser	rs762731644	missense variant	-	NC_000010.11:g.86921674G>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg442His	RCV000635444	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921678G>A	ClinVar
BMPR1A	P36894	p.Arg442Cys	rs587782496	missense variant	-	NC_000010.11:g.86921677C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg442His	rs1554891354	missense variant	-	NC_000010.11:g.86921678G>A	-
BMPR1A	P36894	p.Arg442Cys	RCV000131624	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921677C>T	ClinVar
BMPR1A	P36894	p.Arg442Cys	RCV000459415	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921677C>T	ClinVar
BMPR1A	P36894	p.Arg443His	RCV000216122	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921681G>A	ClinVar
BMPR1A	P36894	p.Arg443Cys	RCV000123222	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	ClinVar
BMPR1A	P36894	p.Arg443Cys	rs35619497	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt,dbSNP
BMPR1A	P36894	p.Arg443Cys	VAR_022831	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt
BMPR1A	P36894	p.Arg443Cys	rs35619497	missense variant	-	NC_000010.11:g.86921680C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg443His	rs876659155	missense variant	-	NC_000010.11:g.86921681G>A	-
BMPR1A	P36894	p.Arg443Cys	RCV000130683	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921680C>T	ClinVar
BMPR1A	P36894	p.Cys444Arg	rs774061725	missense variant	-	NC_000010.11:g.86921683T>C	ExAC,gnomAD
BMPR1A	P36894	p.Cys444Arg	RCV000507271	missense variant	-	NC_000010.11:g.86921683T>C	ClinVar
BMPR1A	P36894	p.Ile445Val	rs587781503	missense variant	-	NC_000010.11:g.86921686A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile445Val	RCV000484454	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000129478	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000779844	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000557878	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Gly448Glu	rs1475630647	missense variant	-	NC_000010.11:g.86923376G>A	TOPMed
BMPR1A	P36894	p.Ile449Thr	rs587781884	missense variant	-	NC_000010.11:g.86923379T>C	-
BMPR1A	P36894	p.Ile449Thr	RCV000130214	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923379T>C	ClinVar
BMPR1A	P36894	p.Ile449Thr	RCV000698507	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923379T>C	ClinVar
BMPR1A	P36894	p.Val450Met	RCV000130813	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923381G>A	ClinVar
BMPR1A	P36894	p.Val450Leu	RCV000551563	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923381G>C	ClinVar
BMPR1A	P36894	p.Val450Leu	rs55932635	missense variant	-	NC_000010.11:g.86923381G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val450Met	rs55932635	missense variant	-	NC_000010.11:g.86923381G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln454Ter	RCV000801917	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923393C>T	ClinVar
BMPR1A	P36894	p.Gln454Ter	RCV000569373	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923393C>T	ClinVar
BMPR1A	P36894	p.Gln454Ter	rs1554891570	stop gained	-	NC_000010.11:g.86923393C>T	-
BMPR1A	P36894	p.Leu455Ser	rs1554891572	missense variant	-	NC_000010.11:g.86923397T>C	-
BMPR1A	P36894	p.Leu455Phe	rs753694209	missense variant	-	NC_000010.11:g.86923398G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Leu455Ser	RCV000635468	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923397T>C	ClinVar
BMPR1A	P36894	p.Leu455Phe	RCV000540010	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923398G>T	ClinVar
BMPR1A	P36894	p.Tyr458Ter	RCV000701773	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923407C>A	ClinVar
BMPR1A	P36894	p.Asn459Ser	RCV000779841	missense variant	-	NC_000010.11:g.86923409A>G	ClinVar
BMPR1A	P36894	p.Met460Ile	rs1206243685	missense variant	-	NC_000010.11:g.86923413G>C	TOPMed
BMPR1A	P36894	p.Met460Val	rs761612520	missense variant	-	NC_000010.11:g.86923411A>G	ExAC,gnomAD
BMPR1A	P36894	p.Met460Ile	RCV000580906	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923413G>C	ClinVar
BMPR1A	P36894	p.Met460Thr	rs758309022	missense variant	-	NC_000010.11:g.86923412T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met460Ile	RCV000550225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923413G>C	ClinVar
BMPR1A	P36894	p.Met460Thr	rs758309022	missense variant	-	NC_000010.11:g.86923412T>C	UniProt,dbSNP
BMPR1A	P36894	p.Met460Thr	VAR_077353	missense variant	-	NC_000010.11:g.86923412T>C	UniProt
BMPR1A	P36894	p.Met460Thr	RCV000164562	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000796815	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000482353	missense variant	-	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000763677	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Val461Leu	rs1160800840	missense variant	-	NC_000010.11:g.86923414G>T	gnomAD
BMPR1A	P36894	p.Pro462Ser	rs1358264691	missense variant	-	NC_000010.11:g.86923417C>T	gnomAD
BMPR1A	P36894	p.Pro462Leu	rs1418504897	missense variant	-	NC_000010.11:g.86923418C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Pro462Leu	RCV000635440	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923418C>T	ClinVar
BMPR1A	P36894	p.Asp464Val	rs1367928891	missense variant	-	NC_000010.11:g.86923424A>T	gnomAD
BMPR1A	P36894	p.Tyr467Ter	rs149787558	stop gained	-	NC_000010.11:g.86923434C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr467Ter	RCV000574255	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923434C>A	ClinVar
BMPR1A	P36894	p.Glu468Gln	RCV000519728	missense variant	-	NC_000010.11:g.86923435G>C	ClinVar
BMPR1A	P36894	p.Glu468Lys	rs199907158	missense variant	-	NC_000010.11:g.86923435G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu468Gln	rs199907158	missense variant	-	NC_000010.11:g.86923435G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu468Lys	RCV000635476	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923435G>A	ClinVar
BMPR1A	P36894	p.Asp469Asn	RCV000479202	missense variant	-	NC_000010.11:g.86923438G>A	ClinVar
BMPR1A	P36894	p.Asp469Asn	rs1064794161	missense variant	-	NC_000010.11:g.86923438G>A	-
BMPR1A	P36894	p.Met470Thr	rs199476089	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt,dbSNP
BMPR1A	P36894	p.Met470Thr	VAR_022832	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt
BMPR1A	P36894	p.Met470Ile	rs749743579	missense variant	-	NC_000010.11:g.86923443G>A	ExAC,gnomAD
BMPR1A	P36894	p.Met470Thr	RCV000569040	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923442T>C	ClinVar
BMPR1A	P36894	p.Met470Ile	RCV000576105	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923443G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	rs771452619	missense variant	-	NC_000010.11:g.86923444C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg471His	rs779371501	missense variant	-	NC_000010.11:g.86923445G>A	ExAC,gnomAD
BMPR1A	P36894	p.Arg471Cys	RCV000581065	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Arg471His	RCV000703304	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923445G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	RCV000757031	missense variant	-	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Arg471His	RCV000580005	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923445G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	RCV000688695	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Glu472Asp	rs1410256559	missense variant	-	NC_000010.11:g.86923449G>C	TOPMed
BMPR1A	P36894	p.Glu472Lys	rs587782836	missense variant	-	NC_000010.11:g.86923447G>A	-
BMPR1A	P36894	p.Glu472Lys	RCV000132424	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923447G>A	ClinVar
BMPR1A	P36894	p.Glu472Asp	RCV000573530	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923449G>C	ClinVar
BMPR1A	P36894	p.Glu472Asp	RCV000690147	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923449G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	rs567733221	missense variant	-	NC_000010.11:g.86923453G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val474Leu	rs567733221	missense variant	-	NC_000010.11:g.86923453G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val474Leu	RCV000467583	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	RCV000129399	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	RCV000481877	missense variant	-	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Lys477Arg	rs767995260	missense variant	-	NC_000010.11:g.86923463A>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys477Ile	rs767995260	missense variant	-	NC_000010.11:g.86923463A>T	ExAC,gnomAD
BMPR1A	P36894	p.Lys477Ile	RCV000656578	missense variant	-	NC_000010.11:g.86923463A>T	ClinVar
BMPR1A	P36894	p.Arg478Cys	RCV000561021	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478Leu	RCV000772719	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923466G>T	ClinVar
BMPR1A	P36894	p.Arg478Leu	rs113849804	missense variant	-	NC_000010.11:g.86923466G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478His	rs113849804	missense variant	-	NC_000010.11:g.86923466G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478His	RCV000235579	missense variant	-	NC_000010.11:g.86923466G>A	ClinVar
BMPR1A	P36894	p.Arg478His	RCV000515344	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923466G>A	ClinVar
BMPR1A	P36894	p.Arg478Cys	rs372178531	missense variant	-	NC_000010.11:g.86923465C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478Cys	RCV000468095	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478Cys	RCV000236117	missense variant	-	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg480Gln	rs535109719	missense variant	-	NC_000010.11:g.86923472G>A	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Arg480Trp	rs876658515	missense variant	-	NC_000010.11:g.86923471C>T	-
BMPR1A	P36894	p.Arg480Leu	rs535109719	missense variant	-	NC_000010.11:g.86923472G>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Arg480Leu	RCV000692641	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923472G>T	ClinVar
BMPR1A	P36894	p.Arg480Leu	RCV000216078	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923472G>T	ClinVar
BMPR1A	P36894	p.Arg480Trp	RCV000466486	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923471C>T	ClinVar
BMPR1A	P36894	p.Arg480Trp	RCV000513335	missense variant	-	NC_000010.11:g.86923471C>T	ClinVar
BMPR1A	P36894	p.Ile482Val	RCV000776412	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923477A>G	ClinVar
BMPR1A	P36894	p.Ile482Val	rs974639091	missense variant	-	NC_000010.11:g.86923477A>G	TOPMed,gnomAD
BMPR1A	P36894	p.Ile482Val	RCV000539230	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923477A>G	ClinVar
BMPR1A	P36894	p.Val483Met	rs1163897191	missense variant	-	NC_000010.11:g.86923480G>A	gnomAD
BMPR1A	P36894	p.Ser484Thr	RCV000635465	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923483T>A	ClinVar
BMPR1A	P36894	p.Ser484Thr	rs1554891611	missense variant	-	NC_000010.11:g.86923483T>A	-
BMPR1A	P36894	p.Ser484Thr	RCV000774893	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923483T>A	ClinVar
BMPR1A	P36894	p.Arg486Trp	rs767763451	missense variant	-	NC_000010.11:g.86923489C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg486Gln	rs752802257	missense variant	-	NC_000010.11:g.86923490G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg486Gln	rs752802257	missense variant	-	NC_000010.11:g.86923490G>A	UniProt,dbSNP
BMPR1A	P36894	p.Arg486Gln	VAR_041400	missense variant	-	NC_000010.11:g.86923490G>A	UniProt
BMPR1A	P36894	p.Arg486Trp	RCV000568540	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923489C>T	ClinVar
BMPR1A	P36894	p.Arg486Gln	RCV000635446	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923490G>A	ClinVar
BMPR1A	P36894	p.Arg486Trp	RCV000553989	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923489C>T	ClinVar
BMPR1A	P36894	p.Arg486Gln	RCV000563574	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923490G>A	ClinVar
BMPR1A	P36894	p.Trp487Ter	RCV000493497	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923493G>A	ClinVar
BMPR1A	P36894	p.Trp487Ter	rs1131691175	stop gained	-	NC_000010.11:g.86923493G>A	-
BMPR1A	P36894	p.Asn488Asp	RCV000579939	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923495A>G	ClinVar
BMPR1A	P36894	p.Asn488Asp	rs1554891616	missense variant	-	NC_000010.11:g.86923495A>G	-
BMPR1A	P36894	p.Ser489Thr	RCV000777189	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923499G>C	ClinVar
BMPR1A	P36894	p.Ser489Thr	rs1554891617	missense variant	-	NC_000010.11:g.86923499G>C	-
BMPR1A	P36894	p.Ser489Thr	RCV000532258	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923499G>C	ClinVar
BMPR1A	P36894	p.Asp490Gly	rs756222157	missense variant	-	NC_000010.11:g.86923502A>G	ExAC,gnomAD
BMPR1A	P36894	p.Asp490Gly	RCV000565108	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923502A>G	ClinVar
BMPR1A	P36894	p.Glu491Lys	rs1329735599	missense variant	-	NC_000010.11:g.86923504G>A	gnomAD
BMPR1A	P36894	p.Glu491Lys	RCV000580662	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923504G>A	ClinVar
BMPR1A	P36894	p.Glu491Lys	RCV000635420	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923504G>A	ClinVar
BMPR1A	P36894	p.Cys492Arg	rs764319366	missense variant	-	NC_000010.11:g.86923594T>C	ExAC,gnomAD
BMPR1A	P36894	p.Cys492Phe	rs1256130183	missense variant	-	NC_000010.11:g.86923595G>T	gnomAD
BMPR1A	P36894	p.Cys492Tyr	rs1256130183	missense variant	-	NC_000010.11:g.86923595G>A	gnomAD
BMPR1A	P36894	p.Cys492Tyr	RCV000575987	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>A	ClinVar
BMPR1A	P36894	p.Cys492Phe	RCV000564886	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>T	ClinVar
BMPR1A	P36894	p.Arg494Gln	RCV000580696	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923601G>A	ClinVar
BMPR1A	P36894	p.Arg494Ter	rs786201040	stop gained	-	NC_000010.11:g.86923600C>T	gnomAD
BMPR1A	P36894	p.Arg494Gln	RCV000635429	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923601G>A	ClinVar
BMPR1A	P36894	p.Arg494Gln	rs1204089728	missense variant	-	NC_000010.11:g.86923601G>A	gnomAD
BMPR1A	P36894	p.Arg494Ter	RCV000483189	nonsense	-	NC_000010.11:g.86923600C>T	ClinVar
BMPR1A	P36894	p.Ala495Val	rs876660569	missense variant	-	NC_000010.11:g.86923604C>T	-
BMPR1A	P36894	p.Ala495Val	RCV000219381	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923604C>T	ClinVar
BMPR1A	P36894	p.Val496Ile	rs753939029	missense variant	-	NC_000010.11:g.86923606G>A	ExAC,gnomAD
BMPR1A	P36894	p.Met500Val	RCV000462223	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000561192	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	rs376651641	missense variant	-	NC_000010.11:g.86923618A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met500Val	RCV000664164	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000345991	missense variant	Juvenile Polyposis	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000486559	missense variant	-	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Ser501Ala	RCV000685762	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923621T>G	ClinVar
BMPR1A	P36894	p.Ser501Ter	RCV000662601	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923622C>G	ClinVar
BMPR1A	P36894	p.Ser501Ter	rs1554891649	stop gained	-	NC_000010.11:g.86923622C>G	-
BMPR1A	P36894	p.Cys503Tyr	RCV000210184	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923628G>A	ClinVar
BMPR1A	P36894	p.Cys503Ser	rs1554891650	missense variant	-	NC_000010.11:g.86923627T>A	-
BMPR1A	P36894	p.Cys503Tyr	rs869312790	missense variant	-	NC_000010.11:g.86923628G>A	-
BMPR1A	P36894	p.Cys503Ser	RCV000635463	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923627T>A	ClinVar
BMPR1A	P36894	p.Trp504Ter	RCV000226766	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923631G>A	ClinVar
BMPR1A	P36894	p.Trp504Ter	RCV000494677	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923631G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	RCV000470753	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923633G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	RCV000579448	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923633G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	rs369966011	missense variant	-	NC_000010.11:g.86923633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn507Ser	rs750840234	missense variant	-	NC_000010.11:g.86923640A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn507Ser	RCV000229682	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Asn507Ser	RCV000563202	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Asn507Ser	RCV000761117	missense variant	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Ala509Ser	RCV000704024	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923645G>T	ClinVar
BMPR1A	P36894	p.Arg511Ser	rs730881437	missense variant	-	NC_000010.11:g.86923653A>C	-
BMPR1A	P36894	p.Arg511Thr	RCV000481601	missense variant	-	NC_000010.11:g.86923652G>C	ClinVar
BMPR1A	P36894	p.Arg511Thr	rs1064793783	missense variant	-	NC_000010.11:g.86923652G>C	-
BMPR1A	P36894	p.Arg511Ser	RCV000159841	missense variant	-	NC_000010.11:g.86923653A>C	ClinVar
BMPR1A	P36894	p.Leu512Pro	RCV000777155	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923655T>C	ClinVar
BMPR1A	P36894	p.Leu512Phe	rs1554891661	missense variant	-	NC_000010.11:g.86923654C>T	-
BMPR1A	P36894	p.Leu512Phe	RCV000635487	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923654C>T	ClinVar
BMPR1A	P36894	p.Thr513Arg	RCV000570983	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923658C>G	ClinVar
BMPR1A	P36894	p.Thr513Arg	rs1201398448	missense variant	-	NC_000010.11:g.86923658C>G	TOPMed
BMPR1A	P36894	p.Ile517Ser	RCV000562011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923670T>G	ClinVar
BMPR1A	P36894	p.Ile517Ser	rs1554891667	missense variant	-	NC_000010.11:g.86923670T>G	-
BMPR1A	P36894	p.Ile517Val	rs754607465	missense variant	-	NC_000010.11:g.86923669A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile517Val	RCV000220935	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923669A>G	ClinVar
BMPR1A	P36894	p.Ile517Val	RCV000635411	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923669A>G	ClinVar
BMPR1A	P36894	p.Lys518Asn	rs1554891668	missense variant	-	NC_000010.11:g.86923674G>C	-
BMPR1A	P36894	p.Lys518Asn	RCV000538426	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923674G>C	ClinVar
BMPR1A	P36894	p.Thr520Met	RCV000701922	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923679C>T	ClinVar
BMPR1A	P36894	p.Thr520Met	rs1179044384	missense variant	-	NC_000010.11:g.86923679C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Leu521Ter	RCV000567697	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923679_86923680insTT	ClinVar
BMPR1A	P36894	p.Leu521Pro	RCV000494307	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923682T>C	ClinVar
BMPR1A	P36894	p.Leu521Pro	rs1131691169	missense variant	-	NC_000010.11:g.86923682T>C	-
BMPR1A	P36894	p.Lys523Arg	RCV000232462	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923688A>G	ClinVar
BMPR1A	P36894	p.Lys523Arg	rs878854665	missense variant	-	NC_000010.11:g.86923688A>G	gnomAD
BMPR1A	P36894	p.Met524Leu	rs747640982	missense variant	-	NC_000010.11:g.86923690A>C	ExAC,gnomAD
BMPR1A	P36894	p.Met524Ile	rs1064793404	missense variant	-	NC_000010.11:g.86923692G>T	TOPMed
BMPR1A	P36894	p.Met524Ile	RCV000479352	missense variant	-	NC_000010.11:g.86923692G>T	ClinVar
BMPR1A	P36894	p.Met524Val	RCV000773711	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923690A>G	ClinVar
BMPR1A	P36894	p.Met524Val	RCV000817674	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923690A>G	ClinVar
BMPR1A	P36894	p.Val525Gly	rs1054284858	missense variant	-	NC_000010.11:g.86923694T>G	TOPMed
BMPR1A	P36894	p.Val525Ile	rs769233029	missense variant	-	NC_000010.11:g.86923693G>A	ExAC,gnomAD
BMPR1A	P36894	p.Val525Ile	RCV000777247	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Val525Ile	RCV000471649	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Val525Ile	RCV000236238	missense variant	-	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Gln528Ter	RCV000563445	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923702C>T	ClinVar
BMPR1A	P36894	p.Gln528His	RCV000776891	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923704A>C	ClinVar
BMPR1A	P36894	p.Gln528His	rs1554891680	missense variant	-	NC_000010.11:g.86923704A>C	-
BMPR1A	P36894	p.Gln528Ter	rs1554891677	stop gained	-	NC_000010.11:g.86923702C>T	-
BMPR1A	P36894	p.Gln528His	RCV000531496	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923704A>C	ClinVar
BMPR1A	P36894	p.Asp529Glu	RCV000205016	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923707T>A	ClinVar
BMPR1A	P36894	p.Asp529Glu	rs864622175	missense variant	-	NC_000010.11:g.86923707T>A	TOPMed
BMPR1A	P36894	p.Asp529Val	rs1276173920	missense variant	-	NC_000010.11:g.86923706A>T	gnomAD
BMPR1A	P36894	p.Asp529Glu	RCV000572604	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923707T>A	ClinVar
BMPR1A	P36894	p.Ile532Met	rs201345248	missense variant	-	NC_000010.11:g.86923716C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile532Met	RCV000129250	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Ile532Met	RCV000034702	missense variant	-	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Ile532Met	RCV000470094	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Met1Val	RCV000556943	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876019A>G	ClinVar
BMPR1A	P36894	p.Met1Val	RCV000166343	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>G	ClinVar
BMPR1A	P36894	p.Met1Ile	RCV000210125	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876021G>C	ClinVar
BMPR1A	P36894	p.Met1Leu	RCV000492794	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876019A>C	ClinVar
BMPR1A	P36894	p.Pro2Leu	RCV000562590	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Pro2Leu	RCV000411290	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Pro2Arg	rs143248687	missense variant	-	NC_000010.11:g.86876023C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Thr	RCV000120253	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000525840	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000131909	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Leu	rs143248687	missense variant	-	NC_000010.11:g.86876023C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Thr	rs11528010	missense variant	-	NC_000010.11:g.86876022C>A	UniProt,dbSNP
BMPR1A	P36894	p.Pro2Thr	VAR_041397	missense variant	-	NC_000010.11:g.86876022C>A	UniProt
BMPR1A	P36894	p.Pro2Thr	rs11528010	missense variant	-	NC_000010.11:g.86876022C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro2Thr	RCV000309392	missense variant	Juvenile Polyposis	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Thr	RCV000034703	missense variant	-	NC_000010.11:g.86876022C>A	ClinVar
BMPR1A	P36894	p.Pro2Leu	RCV000588955	missense variant	-	NC_000010.11:g.86876023C>T	ClinVar
BMPR1A	P36894	p.Gln3Pro	rs1554886804	missense variant	-	NC_000010.11:g.86876026A>C	-
BMPR1A	P36894	p.Gln3Pro	RCV000580930	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876026A>C	ClinVar
BMPR1A	P36894	p.Tyr5Ter	rs1392086533	stop gained	-	NC_000010.11:g.86876033C>A	gnomAD
BMPR1A	P36894	p.Tyr5Ter	RCV000565507	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876033C>A	ClinVar
BMPR1A	P36894	p.Tyr7His	RCV000705938	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876037T>C	ClinVar
BMPR1A	P36894	p.Tyr7His	rs762926643	missense variant	-	NC_000010.11:g.86876037T>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr7His	RCV000582252	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876037T>C	ClinVar
BMPR1A	P36894	p.Ile8Val	rs863224719	missense variant	-	NC_000010.11:g.86876040A>G	TOPMed
BMPR1A	P36894	p.Ile8Val	RCV000195699	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876040A>G	ClinVar
BMPR1A	P36894	p.Ile8Val	RCV000214029	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876040A>G	ClinVar
BMPR1A	P36894	p.Arg9Thr	RCV000523833	missense variant	-	NC_000010.11:g.86876044G>C	ClinVar
BMPR1A	P36894	p.Arg9Thr	rs766269417	missense variant	-	NC_000010.11:g.86876044G>C	ExAC,gnomAD
BMPR1A	P36894	p.Ala13Thr	rs200115604	missense variant	-	NC_000010.11:g.86876055G>A	1000Genomes,TOPMed
BMPR1A	P36894	p.Ala13Gly	rs754015069	missense variant	-	NC_000010.11:g.86876056C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ala13Thr	RCV000233196	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876055G>A	ClinVar
BMPR1A	P36894	p.Ala13Thr	RCV000572173	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876055G>A	ClinVar
BMPR1A	P36894	p.Tyr14Ter	RCV000657333	frameshift	-	NC_000010.11:g.86876058dup	ClinVar
BMPR1A	P36894	p.Tyr14Ter	RCV000759483	frameshift	-	NC_000010.11:g.86876057del	ClinVar
BMPR1A	P36894	p.Leu15Ter	RCV000635432	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876062_86876065del	ClinVar
BMPR1A	P36894	p.Phe16Cys	RCV000159833	missense variant	-	NC_000010.11:g.86876065T>G	ClinVar
BMPR1A	P36894	p.Phe16Cys	rs151235720	missense variant	-	NC_000010.11:g.86876065T>G	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Phe16Tyr	rs151235720	missense variant	-	NC_000010.11:g.86876065T>A	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Ile17Leu	RCV000216319	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile17Leu	RCV000701225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile17Leu	RCV000758774	missense variant	-	NC_000010.11:g.86876067A>C	ClinVar
BMPR1A	P36894	p.Ile17Leu	rs778886055	missense variant	-	NC_000010.11:g.86876067A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile17Val	rs778886055	missense variant	-	NC_000010.11:g.86876067A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile18Thr	rs745920240	missense variant	-	NC_000010.11:g.86876071T>C	ExAC,gnomAD
BMPR1A	P36894	p.Arg20Cys	RCV000553756	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876076C>T	ClinVar
BMPR1A	P36894	p.Arg20Cys	RCV000580767	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876076C>T	ClinVar
BMPR1A	P36894	p.Arg20Cys	rs1472397694	missense variant	-	NC_000010.11:g.86876076C>T	TOPMed
BMPR1A	P36894	p.Arg20His	rs759014147	missense variant	-	NC_000010.11:g.86876077G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg20His	RCV000213165	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876077G>A	ClinVar
BMPR1A	P36894	p.Gln22His	RCV000168143	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876084A>C	ClinVar
BMPR1A	P36894	p.Gln22Pro	rs747437716	missense variant	-	NC_000010.11:g.86876083A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln22Ter	rs1554886821	stop gained	-	NC_000010.11:g.86876082C>T	-
BMPR1A	P36894	p.Gln22His	rs786204152	missense variant	-	NC_000010.11:g.86876084A>C	-
BMPR1A	P36894	p.Gln22Ter	RCV000521828	nonsense	-	NC_000010.11:g.86876082C>T	ClinVar
BMPR1A	P36894	p.Gln22His	RCV000758776	missense variant	-	NC_000010.11:g.86876084A>C	ClinVar
BMPR1A	P36894	p.Gln22Pro	RCV000704484	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86876083A>C	ClinVar
BMPR1A	P36894	p.Gln22Pro	RCV000480437	missense variant	-	NC_000010.11:g.86876083A>C	ClinVar
BMPR1A	P36894	p.Gly23Arg	rs1131691171	missense variant	-	NC_000010.11:g.86876085G>A	-
BMPR1A	P36894	p.Gly23Arg	RCV000494227	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86876085G>A	ClinVar
BMPR1A	P36894	p.Gln24Arg	rs1163365235	missense variant	-	NC_000010.11:g.86890065A>G	gnomAD
BMPR1A	P36894	p.Asn25Ser	RCV000487317	missense variant	-	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Asn25Ser	rs1060503410	missense variant	-	NC_000010.11:g.86890068A>G	-
BMPR1A	P36894	p.Asn25Ser	RCV000463279	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Asn25Ser	RCV000566090	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890068A>G	ClinVar
BMPR1A	P36894	p.Leu26Pro	rs200307579	missense variant	-	NC_000010.11:g.86890071T>C	1000Genomes
BMPR1A	P36894	p.Asp27Tyr	rs1430886611	missense variant	-	NC_000010.11:g.86890073G>T	gnomAD
BMPR1A	P36894	p.Ser28Asn	RCV000196492	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Ser28Asn	rs371904636	missense variant	-	NC_000010.11:g.86890077G>A	ESP,TOPMed,gnomAD
BMPR1A	P36894	p.Ser28Gly	rs1170582171	missense variant	-	NC_000010.11:g.86890076A>G	gnomAD
BMPR1A	P36894	p.Ser28Asn	RCV000568404	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Ser28Asn	RCV000483899	missense variant	-	NC_000010.11:g.86890077G>A	ClinVar
BMPR1A	P36894	p.Leu30Arg	rs1194403044	missense variant	-	NC_000010.11:g.86890083T>G	TOPMed
BMPR1A	P36894	p.Leu30Arg	RCV000580173	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890083T>G	ClinVar
BMPR1A	P36894	p.His31Gln	rs1461705514	missense variant	-	NC_000010.11:g.86890087T>A	gnomAD
BMPR1A	P36894	p.Gly32Arg	RCV000461457	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Gly32Arg	RCV000572168	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Gly32Arg	RCV000522769	missense variant	-	NC_000010.11:g.86890088G>C	ClinVar
BMPR1A	P36894	p.Gly32Arg	rs755462552	missense variant	-	NC_000010.11:g.86890088G>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr33Ala	rs748515167	missense variant	-	NC_000010.11:g.86890091A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr33Ser	rs142454490	missense variant	-	NC_000010.11:g.86890092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr33Ser	RCV000569418	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890092C>G	ClinVar
BMPR1A	P36894	p.Thr33Ala	RCV000552227	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890091A>G	ClinVar
BMPR1A	P36894	p.Thr33Ala	RCV000565843	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890091A>G	ClinVar
BMPR1A	P36894	p.Gly34Ala	rs730881430	missense variant	-	NC_000010.11:g.86890095G>C	-
BMPR1A	P36894	p.Gly34Ala	RCV000159834	missense variant	-	NC_000010.11:g.86890095G>C	ClinVar
BMPR1A	P36894	p.Gly34Ala	RCV000213466	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890095G>C	ClinVar
BMPR1A	P36894	p.Met35Val	rs1043850286	missense variant	-	NC_000010.11:g.86890097A>G	TOPMed
BMPR1A	P36894	p.Met35Ile	RCV000772959	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890099G>T	ClinVar
BMPR1A	P36894	p.Lys36Thr	RCV000776991	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890101A>C	ClinVar
BMPR1A	P36894	p.Asp38Glu	rs1021443408	missense variant	-	NC_000010.11:g.86890108C>G	TOPMed,gnomAD
BMPR1A	P36894	p.Asp38His	rs1554888103	missense variant	-	NC_000010.11:g.86890106G>C	-
BMPR1A	P36894	p.Asp38Glu	RCV000573226	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890108C>G	ClinVar
BMPR1A	P36894	p.Asp38His	RCV000580814	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890106G>C	ClinVar
BMPR1A	P36894	p.Asp38Glu	RCV000822318	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890108C>G	ClinVar
BMPR1A	P36894	p.Ser39Phe	RCV000223454	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>T	ClinVar
BMPR1A	P36894	p.Ser39Tyr	RCV000580363	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890110C>A	ClinVar
BMPR1A	P36894	p.Ser39Tyr	rs876658859	missense variant	-	NC_000010.11:g.86890110C>A	-
BMPR1A	P36894	p.Ser39Phe	rs876658859	missense variant	-	NC_000010.11:g.86890110C>T	-
BMPR1A	P36894	p.Ser39Ter	RCV000144578	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890109_86890110insA	ClinVar
BMPR1A	P36894	p.Ser39Phe	RCV000808348	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890110C>T	ClinVar
BMPR1A	P36894	p.Asp40Ala	rs1060503403	missense variant	-	NC_000010.11:g.86890113A>C	TOPMed
BMPR1A	P36894	p.Asp40Asn	rs587781556	missense variant	-	NC_000010.11:g.86890112G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp40Gly	rs1060503403	missense variant	-	NC_000010.11:g.86890113A>G	TOPMed
BMPR1A	P36894	p.Asp40Gly	RCV000635436	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>G	ClinVar
BMPR1A	P36894	p.Asp40Asn	RCV000521982	missense variant	-	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Asn	RCV000129572	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Asn	RCV000464702	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890112G>A	ClinVar
BMPR1A	P36894	p.Asp40Ala	RCV000463813	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890113A>C	ClinVar
BMPR1A	P36894	p.Asp40Ala	RCV000561127	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890113A>C	ClinVar
BMPR1A	P36894	p.Gln41Arg	rs1363945274	missense variant	-	NC_000010.11:g.86890116A>G	TOPMed
BMPR1A	P36894	p.Lys42Glu	RCV000166341	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890118A>G	ClinVar
BMPR1A	P36894	p.Lys42Glu	rs786203156	missense variant	-	NC_000010.11:g.86890118A>G	-
BMPR1A	P36894	p.Lys42Glu	RCV000635485	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890118A>G	ClinVar
BMPR1A	P36894	p.Glu45Lys	RCV000536243	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127G>A	ClinVar
BMPR1A	P36894	p.Glu45Gly	RCV000697948	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890128A>G	ClinVar
BMPR1A	P36894	p.Glu45Ter	RCV000705111	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890127_86890128del	ClinVar
BMPR1A	P36894	p.Glu45Lys	rs1554888112	missense variant	-	NC_000010.11:g.86890127G>A	-
BMPR1A	P36894	p.Gly47Glu	RCV000231777	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890134G>A	ClinVar
BMPR1A	P36894	p.Gly47Val	rs368595543	missense variant	-	NC_000010.11:g.86890134G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly47Ter	RCV000687804	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890133G>T	ClinVar
BMPR1A	P36894	p.Gly47Glu	rs368595543	missense variant	-	NC_000010.11:g.86890134G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gly47Glu	RCV000166542	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890134G>A	ClinVar
BMPR1A	P36894	p.Gly47Val	RCV000478286	missense variant	-	NC_000010.11:g.86890134G>T	ClinVar
BMPR1A	P36894	p.Val48Ile	rs775188308	missense variant	-	NC_000010.11:g.86890136G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Thr49Ter	RCV000478294	frameshift	-	NC_000010.11:g.86890137dup	ClinVar
BMPR1A	P36894	p.Ala51Thr	rs1554888117	missense variant	-	NC_000010.11:g.86890145G>A	-
BMPR1A	P36894	p.Ala51Thr	RCV000824159	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890145G>A	ClinVar
BMPR1A	P36894	p.Ala51Thr	RCV000566608	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890145G>A	ClinVar
BMPR1A	P36894	p.Glu53Lys	RCV000580074	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890151G>A	ClinVar
BMPR1A	P36894	p.Glu53Gly	RCV000572940	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890152A>G	ClinVar
BMPR1A	P36894	p.Glu53Gly	rs1554888120	missense variant	-	NC_000010.11:g.86890152A>G	-
BMPR1A	P36894	p.Glu53Lys	rs1554888119	missense variant	-	NC_000010.11:g.86890151G>A	-
BMPR1A	P36894	p.Asp54Val	rs1554888124	missense variant	-	NC_000010.11:g.86890155A>T	-
BMPR1A	P36894	p.Asp54Val	RCV000635483	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890155A>T	ClinVar
BMPR1A	P36894	p.Asp54Ter	RCV000492863	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890154del	ClinVar
BMPR1A	P36894	p.Leu56Trp	rs1554888125	missense variant	-	NC_000010.11:g.86890161T>G	-
BMPR1A	P36894	p.Leu56Trp	RCV000635418	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890161T>G	ClinVar
BMPR1A	P36894	p.Pro57Arg	rs1057517610	missense variant	-	NC_000010.11:g.86890164C>G	gnomAD
BMPR1A	P36894	p.Pro57Arg	RCV000494075	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890164C>G	ClinVar
BMPR1A	P36894	p.Phe58Ter	RCV000546241	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170del	ClinVar
BMPR1A	P36894	p.Phe58Ter	RCV000162393	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890170del	ClinVar
BMPR1A	P36894	p.Phe58Tyr	VAR_041398	Missense	-	-	UniProt
BMPR1A	P36894	p.Leu59Ter	RCV000755041	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890170T>A	ClinVar
BMPR1A	P36894	p.Tyr62Cys	rs1060503402	missense variant	-	NC_000010.11:g.86890179A>G	-
BMPR1A	P36894	p.Tyr62Cys	RCV000572912	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890179A>G	ClinVar
BMPR1A	P36894	p.Tyr62Cys	RCV000477054	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890179A>G	ClinVar
BMPR1A	P36894	p.Tyr62Asp	VAR_022828	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
BMPR1A	P36894	p.Cys63Ter	RCV000777502	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890183C>A	ClinVar
BMPR1A	P36894	p.Ser64Leu	rs760515128	missense variant	-	NC_000010.11:g.86890185C>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser64Thr	rs201749804	missense variant	-	NC_000010.11:g.86890184T>A	1000Genomes
BMPR1A	P36894	p.Ser64Leu	RCV000570508	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890185C>T	ClinVar
BMPR1A	P36894	p.Ser64Leu	RCV000235281	missense variant	-	NC_000010.11:g.86890185C>T	ClinVar
BMPR1A	P36894	p.Asp69Tyr	RCV000635479	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890199G>T	ClinVar
BMPR1A	P36894	p.Asp69Gly	RCV000570711	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890200A>G	ClinVar
BMPR1A	P36894	p.Asp69Ter	RCV000570399	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890193_86890197dup	ClinVar
BMPR1A	P36894	p.Asp69Tyr	rs1177143902	missense variant	-	NC_000010.11:g.86890199G>T	gnomAD
BMPR1A	P36894	p.Asp69Gly	rs1554888137	missense variant	-	NC_000010.11:g.86890200A>G	-
BMPR1A	P36894	p.Asp69His	rs1177143902	missense variant	-	NC_000010.11:g.86890199G>C	gnomAD
BMPR1A	P36894	p.Asp70Val	RCV000465318	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890203A>T	ClinVar
BMPR1A	P36894	p.Asp70Val	rs1060503394	missense variant	-	NC_000010.11:g.86890203A>T	-
BMPR1A	P36894	p.Asp70Val	RCV000759481	missense variant	-	NC_000010.11:g.86890203A>T	ClinVar
BMPR1A	P36894	p.Ala71Ter	RCV000460119	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890207_86890222del	ClinVar
BMPR1A	P36894	p.Ile72Val	rs1064795729	missense variant	-	NC_000010.11:g.86890208A>G	-
BMPR1A	P36894	p.Ile72Val	RCV000530720	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Ile72Val	RCV000484198	missense variant	-	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Ile72Val	RCV000776272	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890208A>G	ClinVar
BMPR1A	P36894	p.Asn73Ter	RCV000163765	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890210dup	ClinVar
BMPR1A	P36894	p.Thr75Ala	rs1554888142	missense variant	-	NC_000010.11:g.86890217A>G	-
BMPR1A	P36894	p.Thr75Ala	RCV000572222	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890217A>G	ClinVar
BMPR1A	P36894	p.Cys76Tyr	rs786201792	missense variant	-	NC_000010.11:g.86890221G>A	-
BMPR1A	P36894	p.Cys76Tyr	RCV000164261	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86890221G>A	ClinVar
BMPR1A	P36894	p.Ile77Val	rs878854666	missense variant	-	NC_000010.11:g.86890223A>G	-
BMPR1A	P36894	p.Ile77Val	RCV000226374	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86890223A>G	ClinVar
BMPR1A	P36894	p.Thr78Ser	rs1064793490	missense variant	-	NC_000010.11:g.86892129C>G	gnomAD
BMPR1A	P36894	p.Thr78Ile	rs1064793490	missense variant	-	NC_000010.11:g.86892129C>T	gnomAD
BMPR1A	P36894	p.Thr78Ile	RCV000478119	missense variant	-	NC_000010.11:g.86892129C>T	ClinVar
BMPR1A	P36894	p.Thr78Ile	RCV000794170	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892129C>T	ClinVar
BMPR1A	P36894	p.His81Tyr	RCV000560576	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892137C>T	ClinVar
BMPR1A	P36894	p.His81Leu	rs1064793333	missense variant	-	NC_000010.11:g.86892138A>T	TOPMed
BMPR1A	P36894	p.His81Arg	rs1064793333	missense variant	-	NC_000010.11:g.86892138A>G	TOPMed
BMPR1A	P36894	p.His81Tyr	rs953797046	missense variant	-	NC_000010.11:g.86892137C>T	TOPMed,gnomAD
BMPR1A	P36894	p.His81Arg	RCV000478543	missense variant	-	NC_000010.11:g.86892138A>G	ClinVar
BMPR1A	P36894	p.His81Tyr	RCV000561451	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892137C>T	ClinVar
BMPR1A	P36894	p.His81Leu	RCV000694497	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892138A>T	ClinVar
BMPR1A	P36894	p.His81Leu	RCV000567266	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>T	ClinVar
BMPR1A	P36894	p.His81Arg	RCV000580728	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892138A>G	ClinVar
BMPR1A	P36894	p.Cys82Phe	rs1554888310	missense variant	-	NC_000010.11:g.86892141G>T	-
BMPR1A	P36894	p.Cys82Ter	rs759647230	stop gained	-	NC_000010.11:g.86892142C>A	ExAC,gnomAD
BMPR1A	P36894	p.Cys82Gly	rs1060503406	missense variant	-	NC_000010.11:g.86892140T>G	-
BMPR1A	P36894	p.Cys82Gly	RCV000456263	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892140T>G	ClinVar
BMPR1A	P36894	p.Cys82Phe	RCV000574493	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892141G>T	ClinVar
BMPR1A	P36894	p.Cys82Ter	RCV000214108	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892142C>A	ClinVar
BMPR1A	P36894	p.Cys82Tyr	VAR_022829	Missense	Juvenile polyposis syndrome (JPS) [MIM:174900]	-	UniProt
BMPR1A	P36894	p.Phe83Ter	RCV000168250	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892143_86892147del	ClinVar
BMPR1A	P36894	p.Ala84Thr	rs1456980302	missense variant	-	NC_000010.11:g.86892146G>A	TOPMed
BMPR1A	P36894	p.Ala84Thr	RCV000801612	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892146G>A	ClinVar
BMPR1A	P36894	p.Ala84Thr	RCV000773974	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892146G>A	ClinVar
BMPR1A	P36894	p.Ile85Val	rs374739820	missense variant	-	NC_000010.11:g.86892149A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile85Val	RCV000487158	missense variant	-	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000206721	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile85Val	RCV000130327	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892149A>G	ClinVar
BMPR1A	P36894	p.Ile86Thr	rs876659498	missense variant	-	NC_000010.11:g.86892153T>C	TOPMed
BMPR1A	P36894	p.Ile86Val	rs1554888312	missense variant	-	NC_000010.11:g.86892152A>G	-
BMPR1A	P36894	p.Ile86Val	RCV000819731	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892152A>G	ClinVar
BMPR1A	P36894	p.Ile86Val	RCV000579713	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892152A>G	ClinVar
BMPR1A	P36894	p.Ile86Thr	RCV000221898	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892153T>C	ClinVar
BMPR1A	P36894	p.Glu88Ter	RCV000159835	nonsense	-	NC_000010.11:g.86892158G>T	ClinVar
BMPR1A	P36894	p.Glu88Ter	rs730881431	stop gained	-	NC_000010.11:g.86892158G>T	-
BMPR1A	P36894	p.Glu88Ter	RCV000493126	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892158G>T	ClinVar
BMPR1A	P36894	p.Gln91Lys	RCV000229144	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892167C>A	ClinVar
BMPR1A	P36894	p.Gln91Ter	RCV000573228	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892167C>T	ClinVar
BMPR1A	P36894	p.Gln91Lys	rs878854667	missense variant	-	NC_000010.11:g.86892167C>A	-
BMPR1A	P36894	p.Gln91Ter	rs878854667	stop gained	-	NC_000010.11:g.86892167C>T	-
BMPR1A	P36894	p.Gly92Ter	RCV000583582	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892171del	ClinVar
BMPR1A	P36894	p.Thr95Ala	RCV000804756	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892179A>G	ClinVar
BMPR1A	P36894	p.Thr95Ala	RCV000759482	missense variant	-	NC_000010.11:g.86892179A>G	ClinVar
BMPR1A	P36894	p.Leu96Val	rs1554888320	missense variant	-	NC_000010.11:g.86892182T>G	-
BMPR1A	P36894	p.Leu96Val	RCV000566080	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182T>G	ClinVar
BMPR1A	P36894	p.Ala97Ter	RCV000210116	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892182_86892185dup	ClinVar
BMPR1A	P36894	p.Ser98Ala	RCV000776966	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892188T>G	ClinVar
BMPR1A	P36894	p.Ser98Ala	RCV000700875	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892188T>G	ClinVar
BMPR1A	P36894	p.Ser98Leu	rs756541429	missense variant	-	NC_000010.11:g.86892189C>T	ExAC,gnomAD
BMPR1A	P36894	p.Cys100Gly	RCV000562825	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892194T>G	ClinVar
BMPR1A	P36894	p.Cys100Gly	rs1554888323	missense variant	-	NC_000010.11:g.86892194T>G	-
BMPR1A	P36894	p.Tyr103Ter	rs876658891	stop gained	-	NC_000010.11:g.86892205T>G	-
BMPR1A	P36894	p.Tyr103Ter	RCV000218016	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892205T>G	ClinVar
BMPR1A	P36894	p.Phe108Leu	rs1554888328	missense variant	-	NC_000010.11:g.86892218T>C	-
BMPR1A	P36894	p.Phe108Leu	RCV000635475	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892218T>C	ClinVar
BMPR1A	P36894	p.Gln109Ter	RCV000573819	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86892221del	ClinVar
BMPR1A	P36894	p.Lys111Arg	RCV000477480	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86892228A>G	ClinVar
BMPR1A	P36894	p.Lys111Arg	rs756944246	missense variant	-	NC_000010.11:g.86892228A>G	ExAC,gnomAD
BMPR1A	P36894	p.Pro114Leu	rs757608699	missense variant	-	NC_000010.11:g.86899801C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro114Ser	rs1554888960	missense variant	-	NC_000010.11:g.86899800C>T	-
BMPR1A	P36894	p.Pro114Ser	RCV000635442	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899800C>T	ClinVar
BMPR1A	P36894	p.Ala116Val	RCV000221176	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899807C>T	ClinVar
BMPR1A	P36894	p.Ala116Thr	rs765530870	missense variant	-	NC_000010.11:g.86899806G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ala116Val	rs750097648	missense variant	-	NC_000010.11:g.86899807C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln117Arg	RCV000570895	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899810A>G	ClinVar
BMPR1A	P36894	p.Gln117Arg	rs1360094214	missense variant	-	NC_000010.11:g.86899810A>G	TOPMed
BMPR1A	P36894	p.Leu118Val	rs587782418	missense variant	-	NC_000010.11:g.86899812C>G	-
BMPR1A	P36894	p.Leu118Val	RCV000131465	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899812C>G	ClinVar
BMPR1A	P36894	p.Arg119His	RCV000579641	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899816G>A	ClinVar
BMPR1A	P36894	p.Arg119His	RCV000692600	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899816G>A	ClinVar
BMPR1A	P36894	p.Arg119His	rs1554888965	missense variant	-	NC_000010.11:g.86899816G>A	-
BMPR1A	P36894	p.Arg119Cys	rs587782494	missense variant	-	NC_000010.11:g.86899815C>T	-
BMPR1A	P36894	p.Arg119Cys	RCV000757030	missense variant	-	NC_000010.11:g.86899815C>T	ClinVar
BMPR1A	P36894	p.Arg119Cys	RCV000805939	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899815C>T	ClinVar
BMPR1A	P36894	p.Arg120Trp	rs779661827	missense variant	-	NC_000010.11:g.86899818C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg120Gln	rs1060503401	missense variant	-	NC_000010.11:g.86899819G>A	-
BMPR1A	P36894	p.Arg120Gln	RCV000482494	missense variant	-	NC_000010.11:g.86899819G>A	ClinVar
BMPR1A	P36894	p.Arg120Gln	RCV000467161	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899819G>A	ClinVar
BMPR1A	P36894	p.Thr121Ile	RCV000580329	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899822C>T	ClinVar
BMPR1A	P36894	p.Thr121Ile	rs1554888969	missense variant	-	NC_000010.11:g.86899822C>T	-
BMPR1A	P36894	p.Thr121Ter	RCV000486207	frameshift	-	NC_000010.11:g.86899820del	ClinVar
BMPR1A	P36894	p.Thr121Ter	RCV000493948	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899820del	ClinVar
BMPR1A	P36894	p.Ile122Val	rs1310807915	missense variant	-	NC_000010.11:g.86899824A>G	gnomAD
BMPR1A	P36894	p.Ile122Thr	rs1554888971	missense variant	-	NC_000010.11:g.86899825T>C	-
BMPR1A	P36894	p.Ile122Thr	RCV000548319	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899825T>C	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000494501	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899827del	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000635455	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899826_86899844del	ClinVar
BMPR1A	P36894	p.Glu123Ter	RCV000115828	frameshift	-	NC_000010.11:g.86899829del	ClinVar
BMPR1A	P36894	p.Cys124Arg	rs199476087	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt,dbSNP
BMPR1A	P36894	p.Cys124Arg	VAR_015533	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899830T>C	UniProt
BMPR1A	P36894	p.Cys124Tyr	rs587782388	missense variant	-	NC_000010.11:g.86899831G>A	-
BMPR1A	P36894	p.Cys124Tyr	RCV000131396	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899831G>A	ClinVar
BMPR1A	P36894	p.Cys124Arg	RCV000165949	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899830T>C	ClinVar
BMPR1A	P36894	p.Cys125Ter	RCV000779036	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899834del	ClinVar
BMPR1A	P36894	p.Cys125Gly	RCV000493348	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899833T>G	ClinVar
BMPR1A	P36894	p.Cys125Gly	rs1131691180	missense variant	-	NC_000010.11:g.86899833T>G	-
BMPR1A	P36894	p.Arg126Gly	RCV000563616	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>G	ClinVar
BMPR1A	P36894	p.Arg126Gly	RCV000197535	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899836C>G	ClinVar
BMPR1A	P36894	p.Arg126Leu	RCV000206669	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>T	ClinVar
BMPR1A	P36894	p.Arg126Trp	RCV000575950	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899836C>T	ClinVar
BMPR1A	P36894	p.Arg126Leu	RCV000236577	missense variant	-	NC_000010.11:g.86899837G>T	ClinVar
BMPR1A	P36894	p.Arg126Gly	rs781258592	missense variant	-	NC_000010.11:g.86899836C>G	ExAC,gnomAD
BMPR1A	P36894	p.Arg126Pro	rs864622549	missense variant	-	NC_000010.11:g.86899837G>C	gnomAD
BMPR1A	P36894	p.Arg126Trp	rs781258592	missense variant	-	NC_000010.11:g.86899836C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg126Gln	rs864622549	missense variant	-	NC_000010.11:g.86899837G>A	gnomAD
BMPR1A	P36894	p.Arg126Leu	rs864622549	missense variant	-	NC_000010.11:g.86899837G>T	gnomAD
BMPR1A	P36894	p.Arg126Gln	RCV000691505	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>A	ClinVar
BMPR1A	P36894	p.Arg126Gln	RCV000584220	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899837G>A	ClinVar
BMPR1A	P36894	p.Arg126Pro	RCV000635481	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899837G>C	ClinVar
BMPR1A	P36894	p.Asn128Ser	rs375165807	missense variant	-	NC_000010.11:g.86899843A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn128Ser	RCV000166089	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	RCV000479183	missense variant	-	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Asn128Ser	RCV000469945	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899843A>G	ClinVar
BMPR1A	P36894	p.Cys130Ser	RCV000200107	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899849G>C	ClinVar
BMPR1A	P36894	p.Cys130Arg	rs1131691168	missense variant	-	NC_000010.11:g.86899848T>C	-
BMPR1A	P36894	p.Cys130Arg	rs1131691168	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt,dbSNP
BMPR1A	P36894	p.Cys130Arg	VAR_022830	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899848T>C	UniProt
BMPR1A	P36894	p.Cys130Ser	rs863224720	missense variant	-	NC_000010.11:g.86899849G>C	-
BMPR1A	P36894	p.Cys130Arg	RCV000493560	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899848T>C	ClinVar
BMPR1A	P36894	p.Asn131Lys	RCV000164797	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>G	ClinVar
BMPR1A	P36894	p.Asn131Lys	RCV000213228	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899853C>A	ClinVar
BMPR1A	P36894	p.Asn131Lys	rs786202136	missense variant	-	NC_000010.11:g.86899853C>A	-
BMPR1A	P36894	p.Asn131Lys	rs786202136	missense variant	-	NC_000010.11:g.86899853C>G	-
BMPR1A	P36894	p.Gln135Arg	rs1344373156	missense variant	-	NC_000010.11:g.86899864A>G	gnomAD
BMPR1A	P36894	p.Pro136Leu	RCV000635469	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899867C>T	ClinVar
BMPR1A	P36894	p.Pro136Ter	RCV000214964	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899865dup	ClinVar
BMPR1A	P36894	p.Pro136Leu	rs1554888980	missense variant	-	NC_000010.11:g.86899867C>T	-
BMPR1A	P36894	p.Pro136Ter	RCV000473459	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899865dup	ClinVar
BMPR1A	P36894	p.Leu138Pro	rs767385418	missense variant	-	NC_000010.11:g.86899873T>C	ExAC,gnomAD
BMPR1A	P36894	p.Leu138Arg	rs767385418	missense variant	-	NC_000010.11:g.86899873T>G	ExAC,gnomAD
BMPR1A	P36894	p.Pro139Arg	rs1554888987	missense variant	-	NC_000010.11:g.86899876C>G	-
BMPR1A	P36894	p.Pro139Arg	RCV000583841	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899876C>G	ClinVar
BMPR1A	P36894	p.Pro139Ser	rs772163112	missense variant	-	NC_000010.11:g.86899875C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro139Ser	RCV000686458	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899875C>T	ClinVar
BMPR1A	P36894	p.Pro140Ala	rs138478597	missense variant	-	NC_000010.11:g.86899878C>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro140Ter	RCV000635425	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899879del	ClinVar
BMPR1A	P36894	p.Pro140Leu	RCV000580587	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899879C>T	ClinVar
BMPR1A	P36894	p.Pro140Ser	rs138478597	missense variant	-	NC_000010.11:g.86899878C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Pro140Leu	rs1312138101	missense variant	-	NC_000010.11:g.86899879C>T	TOPMed
BMPR1A	P36894	p.Pro140Ser	RCV000506566	missense variant	-	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Pro140Ser	RCV000526586	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Pro140Ala	RCV000473238	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899878C>G	ClinVar
BMPR1A	P36894	p.Pro140Ser	RCV000581937	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899878C>T	ClinVar
BMPR1A	P36894	p.Val141Ter	RCV000164147	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899880del	ClinVar
BMPR1A	P36894	p.Val141Ile	rs1244692883	missense variant	-	NC_000010.11:g.86899881G>A	gnomAD
BMPR1A	P36894	p.Val141Ala	rs1442736321	missense variant	-	NC_000010.11:g.86899882T>C	gnomAD
BMPR1A	P36894	p.Val142Leu	RCV000689735	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86899884G>C	ClinVar
BMPR1A	P36894	p.Ile143Leu	rs760739609	missense variant	-	NC_000010.11:g.86899887A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Leu	rs760739609	missense variant	-	NC_000010.11:g.86899887A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Val	RCV000574707	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>G	ClinVar
BMPR1A	P36894	p.Ile143Val	rs760739609	missense variant	-	NC_000010.11:g.86899887A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile143Leu	RCV000581072	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899887A>C	ClinVar
BMPR1A	P36894	p.Gly144Arg	RCV000215661	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86899890G>C	ClinVar
BMPR1A	P36894	p.Gly144Arg	rs876658573	missense variant	-	NC_000010.11:g.86899890G>C	-
BMPR1A	P36894	p.Pro145Leu	RCV000773372	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900030C>T	ClinVar
BMPR1A	P36894	p.Phe146Leu	RCV000687903	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900034T>G	ClinVar
BMPR1A	P36894	p.Phe146Ser	rs587778112	missense variant	-	NC_000010.11:g.86900033T>C	ExAC,gnomAD
BMPR1A	P36894	p.Phe146Val	rs1554889007	missense variant	-	NC_000010.11:g.86900032T>G	-
BMPR1A	P36894	p.Phe146Ser	RCV000120254	missense variant	-	NC_000010.11:g.86900033T>C	ClinVar
BMPR1A	P36894	p.Phe146Val	RCV000547539	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900032T>G	ClinVar
BMPR1A	P36894	p.Phe147Ser	rs371243894	missense variant	-	NC_000010.11:g.86900036T>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Phe147Ser	RCV000572583	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900036T>C	ClinVar
BMPR1A	P36894	p.Phe147Ser	RCV000701918	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900036T>C	ClinVar
BMPR1A	P36894	p.Gly149Val	rs773689557	missense variant	-	NC_000010.11:g.86900042G>T	ExAC,gnomAD
BMPR1A	P36894	p.Ile151Thr	RCV000583785	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900048T>C	ClinVar
BMPR1A	P36894	p.Ile151Thr	rs1554889010	missense variant	-	NC_000010.11:g.86900048T>C	-
BMPR1A	P36894	p.Arg152Ter	rs1131691178	stop gained	-	NC_000010.11:g.86900050C>T	TOPMed
BMPR1A	P36894	p.Arg152Gln	rs567009904	missense variant	-	NC_000010.11:g.86900051G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg152Gly	rs1131691178	missense variant	-	NC_000010.11:g.86900050C>G	TOPMed
BMPR1A	P36894	p.Arg152Gly	RCV000574904	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>G	ClinVar
BMPR1A	P36894	p.Arg152Gln	RCV000635472	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900051G>A	ClinVar
BMPR1A	P36894	p.Arg152Gln	RCV000564920	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900051G>A	ClinVar
BMPR1A	P36894	p.Arg152Ter	RCV000494036	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900050C>T	ClinVar
BMPR1A	P36894	p.Trp153Ter	RCV000493870	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900054G>A	ClinVar
BMPR1A	P36894	p.Trp153Ter	rs1131691176	stop gained	-	NC_000010.11:g.86900054G>A	-
BMPR1A	P36894	p.Leu157Arg	rs751260747	missense variant	-	NC_000010.11:g.86900066T>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile158Leu	RCV000691044	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900068A>C	ClinVar
BMPR1A	P36894	p.Ser159Pro	rs767157505	missense variant	-	NC_000010.11:g.86900071T>C	ExAC,gnomAD
BMPR1A	P36894	p.Ser159Pro	RCV000580150	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900071T>C	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000763676	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	rs145101532	missense variant	-	NC_000010.11:g.86900074A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met160Val	RCV000656783	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000129348	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000481297	missense variant	-	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Met160Val	RCV000205803	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900074A>G	ClinVar
BMPR1A	P36894	p.Ala161Thr	rs1443649142	missense variant	-	NC_000010.11:g.86900077G>A	gnomAD
BMPR1A	P36894	p.Ala161Ter	RCV000493050	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900077del	ClinVar
BMPR1A	P36894	p.Ile164Val	rs142965096	missense variant	-	NC_000010.11:g.86900086A>G	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Ile164Val	RCV000573874	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900086A>G	ClinVar
BMPR1A	P36894	p.Ile165Met	rs763934014	missense variant	-	NC_000010.11:g.86900091T>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile165Thr	rs1260484420	missense variant	-	NC_000010.11:g.86900090T>C	gnomAD
BMPR1A	P36894	p.Ala166Thr	RCV000772204	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900092G>A	ClinVar
BMPR1A	P36894	p.Ala166Thr	RCV000635426	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900092G>A	ClinVar
BMPR1A	P36894	p.Ala166Thr	rs971636078	missense variant	-	NC_000010.11:g.86900092G>A	-
BMPR1A	P36894	p.Met167Leu	RCV000761022	missense variant	Craniopharyngioma	NC_000010.11:g.86900095A>T	ClinVar
BMPR1A	P36894	p.Met167Val	RCV000493778	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>G	ClinVar
BMPR1A	P36894	p.Met167Leu	rs200951235	missense variant	-	NC_000010.11:g.86900095A>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met167Val	rs200951235	missense variant	-	NC_000010.11:g.86900095A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met167Leu	RCV000166911	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900095A>T	ClinVar
BMPR1A	P36894	p.Ile168Met	rs778615896	missense variant	-	NC_000010.11:g.86900100C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile168Met	RCV000165557	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900100C>G	ClinVar
BMPR1A	P36894	p.Ile169Phe	RCV000226965	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Ile169Phe	rs878854668	missense variant	-	NC_000010.11:g.86900101A>T	gnomAD
BMPR1A	P36894	p.Ile169Val	rs878854668	missense variant	-	NC_000010.11:g.86900101A>G	gnomAD
BMPR1A	P36894	p.Ile169Phe	RCV000565550	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Ile169Phe	RCV000236060	missense variant	-	NC_000010.11:g.86900101A>T	ClinVar
BMPR1A	P36894	p.Phe170Pro	RCV000608762	insertion	-	NC_000010.11:g.86900102_86900103insTCC	ClinVar
BMPR1A	P36894	p.Phe170Cys	rs555873943	missense variant	-	NC_000010.11:g.86900105T>G	1000Genomes
BMPR1A	P36894	p.Ser171Pro	rs377733546	missense variant	-	NC_000010.11:g.86900107T>C	ESP,ExAC,gnomAD
BMPR1A	P36894	p.Ser171Cys	rs781286980	missense variant	-	NC_000010.11:g.86900108C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ser171Phe	RCV000775831	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900108C>T	ClinVar
BMPR1A	P36894	p.Cys173Trp	rs863224721	missense variant	-	NC_000010.11:g.86900115C>G	-
BMPR1A	P36894	p.Cys173Trp	RCV000196338	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900115C>G	ClinVar
BMPR1A	P36894	p.Cys173Trp	RCV000573423	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900115C>G	ClinVar
BMPR1A	P36894	p.Cys175Tyr	RCV000635417	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>A	ClinVar
BMPR1A	P36894	p.Cys175Ser	rs370091063	missense variant	-	NC_000010.11:g.86900120G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Cys175Tyr	rs370091063	missense variant	-	NC_000010.11:g.86900120G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Cys175Tyr	RCV000167415	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>A	ClinVar
BMPR1A	P36894	p.Cys175Ser	RCV000214413	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900120G>C	ClinVar
BMPR1A	P36894	p.Cys175Ser	RCV000688030	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900120G>C	ClinVar
BMPR1A	P36894	p.Tyr176His	RCV000772992	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86900122T>C	ClinVar
BMPR1A	P36894	p.Tyr176Cys	RCV000635460	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86900123A>G	ClinVar
BMPR1A	P36894	p.Tyr176Cys	rs1554889024	missense variant	-	NC_000010.11:g.86900123A>G	-
BMPR1A	P36894	p.Tyr176Ter	rs770387084	stop gained	-	NC_000010.11:g.86900124C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys181Arg	rs1446889676	missense variant	-	NC_000010.11:g.86912251A>G	TOPMed
BMPR1A	P36894	p.Ser182Asn	rs1341015567	missense variant	-	NC_000010.11:g.86912254G>A	gnomAD
BMPR1A	P36894	p.Ser184Leu	RCV000635438	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912260C>T	ClinVar
BMPR1A	P36894	p.Ser184Ter	RCV000494378	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912260C>G	ClinVar
BMPR1A	P36894	p.Ser185Cys	rs1554890203	missense variant	-	NC_000010.11:g.86912262A>T	-
BMPR1A	P36894	p.Ser185Cys	RCV000564854	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912262A>T	ClinVar
BMPR1A	P36894	p.Arg187Cys	rs587782231	missense variant	-	NC_000010.11:g.86912268C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg187His	rs189059377	missense variant	-	NC_000010.11:g.86912269G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg187Cys	RCV000458724	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912268C>T	ClinVar
BMPR1A	P36894	p.Arg187His	RCV000479869	missense variant	-	NC_000010.11:g.86912269G>A	ClinVar
BMPR1A	P36894	p.Arg187Cys	RCV000130928	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912268C>T	ClinVar
BMPR1A	P36894	p.Arg188Cys	RCV000491978	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912271C>T	ClinVar
BMPR1A	P36894	p.Arg188Cys	rs879254272	missense variant	-	NC_000010.11:g.86912271C>T	gnomAD
BMPR1A	P36894	p.Arg188His	rs749780872	missense variant	-	NC_000010.11:g.86912272G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg188His	RCV000206361	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912272G>A	ClinVar
BMPR1A	P36894	p.Arg188His	RCV000221059	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912272G>A	ClinVar
BMPR1A	P36894	p.Tyr189Ter	RCV000692187	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912275dup	ClinVar
BMPR1A	P36894	p.Tyr189Ter	RCV000554511	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912276C>A	ClinVar
BMPR1A	P36894	p.Tyr189His	RCV000805843	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912274T>C	ClinVar
BMPR1A	P36894	p.Tyr189His	RCV000777557	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912274T>C	ClinVar
BMPR1A	P36894	p.Tyr189Ter	rs1554890213	stop gained	-	NC_000010.11:g.86912276C>A	-
BMPR1A	P36894	p.Asn190Ile	rs574229174	missense variant	-	NC_000010.11:g.86912278A>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Asn190Ser	rs574229174	missense variant	-	NC_000010.11:g.86912278A>G	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Asn190Asp	rs771444196	missense variant	-	NC_000010.11:g.86912277A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn190Ser	RCV000123225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912278A>G	ClinVar
BMPR1A	P36894	p.Asn190Ser	RCV000167437	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912278A>G	ClinVar
BMPR1A	P36894	p.Arg191Cys	rs1053423400	missense variant	-	NC_000010.11:g.86912280C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg191His	rs746231785	missense variant	-	NC_000010.11:g.86912281G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg191Cys	RCV000580053	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912280C>T	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000482512	missense variant	-	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Arg191Cys	RCV000635416	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912280C>T	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000573990	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Arg191His	RCV000543581	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912281G>A	ClinVar
BMPR1A	P36894	p.Leu193Phe	rs1060503404	missense variant	-	NC_000010.11:g.86912288G>C	-
BMPR1A	P36894	p.Leu193Phe	RCV000457968	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912288G>C	ClinVar
BMPR1A	P36894	p.Leu193Ter	RCV000532814	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912287dup	ClinVar
BMPR1A	P36894	p.Gln195Lys	RCV000206242	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912292C>A	ClinVar
BMPR1A	P36894	p.Gln195Leu	rs775295628	missense variant	-	NC_000010.11:g.86912293A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Lys	RCV000586948	missense variant	-	NC_000010.11:g.86912292C>A	ClinVar
BMPR1A	P36894	p.Gln195Lys	rs771910503	missense variant	-	NC_000010.11:g.86912292C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Arg	rs775295628	missense variant	-	NC_000010.11:g.86912293A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Gln195Arg	RCV000575488	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912293A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000484852	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000473381	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	rs141608069	missense variant	-	NC_000010.11:g.86912296A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp196Gly	RCV000777241	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Asp196Gly	RCV000766536	missense variant	-	NC_000010.11:g.86912296A>G	ClinVar
BMPR1A	P36894	p.Glu197Ala	rs763548019	missense variant	-	NC_000010.11:g.86912299A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ala198Val	RCV000777614	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912302C>T	ClinVar
BMPR1A	P36894	p.Ala198Glu	rs776160961	missense variant	-	NC_000010.11:g.86912302C>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Phe199Ile	rs1297422277	missense variant	-	NC_000010.11:g.86912304T>A	gnomAD
BMPR1A	P36894	p.Val202Phe	RCV000227718	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912313G>T	ClinVar
BMPR1A	P36894	p.Val202Ala	rs879254158	missense variant	-	NC_000010.11:g.86912314T>C	-
BMPR1A	P36894	p.Val202Ala	RCV000235959	missense variant	-	NC_000010.11:g.86912314T>C	ClinVar
BMPR1A	P36894	p.Val202Phe	rs878854670	missense variant	-	NC_000010.11:g.86912313G>T	-
BMPR1A	P36894	p.Gly203Glu	rs587782748	missense variant	-	NC_000010.11:g.86912317G>A	gnomAD
BMPR1A	P36894	p.Gly203Glu	RCV000132254	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912317G>A	ClinVar
BMPR1A	P36894	p.Leu206Val	rs1064793512	missense variant	-	NC_000010.11:g.86912325C>G	-
BMPR1A	P36894	p.Leu206Val	RCV000479389	missense variant	-	NC_000010.11:g.86912325C>G	ClinVar
BMPR1A	P36894	p.Lys207Arg	RCV000507885	missense variant	-	NC_000010.11:g.86912329A>G	ClinVar
BMPR1A	P36894	p.Lys207Arg	rs1554890228	missense variant	-	NC_000010.11:g.86912329A>G	-
BMPR1A	P36894	p.Leu209Phe	rs1334589004	missense variant	-	NC_000010.11:g.86912334C>T	gnomAD
BMPR1A	P36894	p.Ile210Thr	rs730881432	missense variant	-	NC_000010.11:g.86912338T>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile210Val	rs750274275	missense variant	-	NC_000010.11:g.86912337A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile210Val	RCV000562215	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912337A>G	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000159836	missense variant	-	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000772717	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Ile210Thr	RCV000796745	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912338T>C	ClinVar
BMPR1A	P36894	p.Gln212Lys	RCV000635471	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln212Glu	rs876658138	missense variant	-	NC_000010.11:g.86912343C>G	TOPMed,gnomAD
BMPR1A	P36894	p.Gln212Lys	rs876658138	missense variant	-	NC_000010.11:g.86912343C>A	TOPMed,gnomAD
BMPR1A	P36894	p.Gln212Lys	RCV000480249	missense variant	-	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln212Lys	RCV000217755	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912343C>A	ClinVar
BMPR1A	P36894	p.Gln214Lys	RCV000582831	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912349C>A	ClinVar
BMPR1A	P36894	p.Gln214Lys	rs1305429176	missense variant	-	NC_000010.11:g.86912349C>A	gnomAD
BMPR1A	P36894	p.Gln214Lys	RCV000691450	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912349C>A	ClinVar
BMPR1A	P36894	p.Ser215Asn	RCV000575085	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912353G>A	ClinVar
BMPR1A	P36894	p.Ser215Asn	rs1554890233	missense variant	-	NC_000010.11:g.86912353G>A	-
BMPR1A	P36894	p.Gly217Cys	rs766093107	missense variant	-	NC_000010.11:g.86912358G>T	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Asn	rs752893921	missense variant	-	NC_000010.11:g.86912362G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Thr	rs752893921	missense variant	-	NC_000010.11:g.86912362G>C	ExAC,gnomAD
BMPR1A	P36894	p.Ser218Gly	RCV000700647	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912361A>G	ClinVar
BMPR1A	P36894	p.Gly219Glu	RCV000230480	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912365G>A	ClinVar
BMPR1A	P36894	p.Gly219Glu	rs878854671	missense variant	-	NC_000010.11:g.86912365G>A	-
BMPR1A	P36894	p.Gly221Glu	RCV000776724	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86912371G>A	ClinVar
BMPR1A	P36894	p.Leu224Ile	rs756310331	missense variant	-	NC_000010.11:g.86912379T>A	ExAC,gnomAD
BMPR1A	P36894	p.Leu225Ter	RCV000693404	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86912383del	ClinVar
BMPR1A	P36894	p.Val226Phe	rs587780110	missense variant	-	NC_000010.11:g.86917134G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val226Ile	RCV000777011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>A	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000123228	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000515164	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000115829	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000656784	missense variant	-	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Val226Phe	RCV000561750	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917134G>T	ClinVar
BMPR1A	P36894	p.Arg228Gln	rs747371306	missense variant	-	NC_000010.11:g.86917141G>A	ExAC,gnomAD
BMPR1A	P36894	p.Arg228Ter	RCV000132109	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917140C>T	ClinVar
BMPR1A	P36894	p.Arg228Ter	RCV000475579	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917140C>T	ClinVar
BMPR1A	P36894	p.Arg228Ter	rs587782682	stop gained	-	NC_000010.11:g.86917140C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile230Val	rs730881433	missense variant	-	NC_000010.11:g.86917146A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile230Val	RCV000159837	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
BMPR1A	P36894	p.Ile230Val	RCV000779845	missense variant	-	NC_000010.11:g.86917146A>G	ClinVar
BMPR1A	P36894	p.Ala231Thr	rs1161175030	missense variant	-	NC_000010.11:g.86917149G>A	gnomAD
BMPR1A	P36894	p.Lys232Arg	rs587781341	missense variant	-	NC_000010.11:g.86917153A>G	gnomAD
BMPR1A	P36894	p.Lys232Arg	RCV000129114	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917153A>G	ClinVar
BMPR1A	P36894	p.Lys232Glu	RCV000773688	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917152A>G	ClinVar
BMPR1A	P36894	p.Gln233Ter	RCV000522325	nonsense	-	NC_000010.11:g.86917155C>T	ClinVar
BMPR1A	P36894	p.Gln233Ter	rs1554890743	stop gained	-	NC_000010.11:g.86917155C>T	-
BMPR1A	P36894	p.Gln235Glu	RCV000635419	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917161C>G	ClinVar
BMPR1A	P36894	p.Gln235Glu	rs1554890745	missense variant	-	NC_000010.11:g.86917161C>G	-
BMPR1A	P36894	p.Met236Ile	RCV000695522	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917166G>A	ClinVar
BMPR1A	P36894	p.Met236Thr	rs1347027954	missense variant	-	NC_000010.11:g.86917165T>C	gnomAD
BMPR1A	P36894	p.Met236Val	rs1303164661	missense variant	-	NC_000010.11:g.86917164A>G	gnomAD
BMPR1A	P36894	p.Met236Thr	RCV000584676	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917165T>C	ClinVar
BMPR1A	P36894	p.Arg238Gln	RCV000129721	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917171G>A	ClinVar
BMPR1A	P36894	p.Arg238Gly	rs747728399	missense variant	-	NC_000010.11:g.86917170C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Gln	rs191742018	missense variant	-	NC_000010.11:g.86917171G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Gln	RCV000236672	missense variant	-	NC_000010.11:g.86917171G>A	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000557396	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000520400	missense variant	-	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Arg238Trp	RCV000564877	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>T	ClinVar
BMPR1A	P36894	p.Arg238Trp	rs747728399	missense variant	-	NC_000010.11:g.86917170C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg238Trp	RCV000635447	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917170C>T	ClinVar
BMPR1A	P36894	p.Arg238Gly	RCV000581103	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917170C>G	ClinVar
BMPR1A	P36894	p.Gln239Lys	rs199476084	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917173C>A	-
BMPR1A	P36894	p.Gln239Lys	RCV000583131	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917173C>A	ClinVar
BMPR1A	P36894	p.Gln239Ter	RCV000008713	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917173C>T	ClinVar
BMPR1A	P36894	p.Val240Ile	rs1060503405	missense variant	-	NC_000010.11:g.86917176G>A	gnomAD
BMPR1A	P36894	p.Val240Ile	RCV000470969	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917176G>A	ClinVar
BMPR1A	P36894	p.Gly241Asp	rs1554890758	missense variant	-	NC_000010.11:g.86917180G>A	-
BMPR1A	P36894	p.Gly241Asp	RCV000560943	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917180G>A	ClinVar
BMPR1A	P36894	p.Gly241Ser	rs1226033707	missense variant	-	NC_000010.11:g.86917179G>A	gnomAD
BMPR1A	P36894	p.Gly241Ser	RCV000566364	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917179G>A	ClinVar
BMPR1A	P36894	p.Lys242Arg	rs762926637	missense variant	-	NC_000010.11:g.86917183A>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys242Arg	RCV000580544	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917183A>G	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000686857	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000850053	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Arg244Gln	RCV000472993	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189G>A	ClinVar
BMPR1A	P36894	p.Arg244Ter	rs759363072	stop gained	-	NC_000010.11:g.86917188C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gly	rs759363072	missense variant	-	NC_000010.11:g.86917188C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gln	rs147971049	missense variant	-	NC_000010.11:g.86917189G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg244Gln	RCV000567827	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917189G>A	ClinVar
BMPR1A	P36894	p.Arg244Ter	RCV000481831	nonsense	-	NC_000010.11:g.86917188C>T	ClinVar
BMPR1A	P36894	p.Tyr245Asn	rs369012159	missense variant	-	NC_000010.11:g.86917191T>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr245Asn	RCV000231232	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Tyr245Ter	RCV000635449	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917189dup	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000589200	missense variant	-	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Tyr245Ter	RCV000494258	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917193T>G	ClinVar
BMPR1A	P36894	p.Tyr245Asn	RCV000130665	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917191T>A	ClinVar
BMPR1A	P36894	p.Met250Leu	rs762087997	missense variant	-	NC_000010.11:g.86917206A>T	ExAC,gnomAD
BMPR1A	P36894	p.Met250Ile	RCV000758778	missense variant	-	NC_000010.11:g.86917208G>A	ClinVar
BMPR1A	P36894	p.Met250Thr	rs587780783	missense variant	-	NC_000010.11:g.86917207T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met250Thr	RCV000586264	missense variant	-	NC_000010.11:g.86917207T>C	ClinVar
BMPR1A	P36894	p.Gly251Cys	RCV000587600	missense variant	-	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Gly251Asp	RCV000573680	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917210G>A	ClinVar
BMPR1A	P36894	p.Gly251Cys	RCV000545911	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Gly251Asp	rs1554890768	missense variant	-	NC_000010.11:g.86917210G>A	-
BMPR1A	P36894	p.Gly251Cys	rs750513716	missense variant	-	NC_000010.11:g.86917209G>T	ExAC,gnomAD
BMPR1A	P36894	p.Gly251Cys	RCV000569001	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917209G>T	ClinVar
BMPR1A	P36894	p.Lys252Arg	RCV000635454	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917213A>G	ClinVar
BMPR1A	P36894	p.Lys252Arg	rs1554890769	missense variant	-	NC_000010.11:g.86917213A>G	-
BMPR1A	P36894	p.Arg254Leu	RCV000218230	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>T	ClinVar
BMPR1A	P36894	p.Arg254Leu	rs766908700	missense variant	-	NC_000010.11:g.86917219G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Pro	rs766908700	missense variant	-	NC_000010.11:g.86917219G>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254His	rs766908700	missense variant	-	NC_000010.11:g.86917219G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Cys	rs587782578	missense variant	-	NC_000010.11:g.86917218C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg254Cys	RCV000515265	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Cys	RCV000200056	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254Cys	RCV000484680	missense variant	-	NC_000010.11:g.86917218C>T	ClinVar
BMPR1A	P36894	p.Arg254His	RCV000461599	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917219G>A	ClinVar
BMPR1A	P36894	p.Arg254Pro	RCV000569876	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917219G>C	ClinVar
BMPR1A	P36894	p.Glu256Lys	rs755372473	missense variant	-	NC_000010.11:g.86917224G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys257Glu	rs1554890784	missense variant	-	NC_000010.11:g.86917227A>G	-
BMPR1A	P36894	p.Lys257Glu	RCV000575124	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917227A>G	ClinVar
BMPR1A	P36894	p.Val258Ter	RCV000227192	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917229del	ClinVar
BMPR1A	P36894	p.Ala259Val	RCV000576012	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917234C>T	ClinVar
BMPR1A	P36894	p.Ala259Val	rs905457708	missense variant	-	NC_000010.11:g.86917234C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Ala259Val	RCV000587159	missense variant	-	NC_000010.11:g.86917234C>T	ClinVar
BMPR1A	P36894	p.Val260Gly	rs755740570	missense variant	-	NC_000010.11:g.86917237T>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys261Glu	rs777305118	missense variant	-	NC_000010.11:g.86917239A>G	ExAC,gnomAD
BMPR1A	P36894	p.Val262Ala	RCV000679550	missense variant	-	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Val262Ala	rs770830310	missense variant	-	NC_000010.11:g.86917243T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Glu	rs770830310	missense variant	-	NC_000010.11:g.86917243T>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Ala	RCV000466256	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Val262Gly	rs770830310	missense variant	-	NC_000010.11:g.86917243T>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val262Ile	rs748790017	missense variant	-	NC_000010.11:g.86917242G>A	ExAC,TOPMed
BMPR1A	P36894	p.Val262Ala	RCV000573612	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917243T>C	ClinVar
BMPR1A	P36894	p.Phe264Ser	rs775377247	missense variant	-	NC_000010.11:g.86917249T>C	ExAC,gnomAD
BMPR1A	P36894	p.Thr265Ile	RCV000483613	missense variant	-	NC_000010.11:g.86917252C>T	ClinVar
BMPR1A	P36894	p.Thr265Ile	rs1064793937	missense variant	-	NC_000010.11:g.86917252C>T	-
BMPR1A	P36894	p.Thr266Ser	rs1554890797	missense variant	-	NC_000010.11:g.86917255C>G	-
BMPR1A	P36894	p.Thr266Ser	RCV000567379	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917255C>G	ClinVar
BMPR1A	P36894	p.Thr266Ala	rs1273972467	missense variant	-	NC_000010.11:g.86917254A>G	gnomAD
BMPR1A	P36894	p.Trp271Ter	rs199476085	stop gained	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86917270G>A	-
BMPR1A	P36894	p.Trp271Ter	RCV000008714	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917270G>A	ClinVar
BMPR1A	P36894	p.Arg273Gln	rs762178061	missense variant	-	NC_000010.11:g.86917276G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg273Ter	rs587782400	stop gained	-	NC_000010.11:g.86917275C>T	-
BMPR1A	P36894	p.Arg273Ter	RCV000131433	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Arg273Ter	RCV000482559	nonsense	-	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Arg273Ter	RCV000229057	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917275C>T	ClinVar
BMPR1A	P36894	p.Glu276Ter	RCV000705148	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917284_86917285del	ClinVar
BMPR1A	P36894	p.Glu276Ter	RCV000130286	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917284_86917285del	ClinVar
BMPR1A	P36894	p.Ile277Val	RCV000460344	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917287A>G	ClinVar
BMPR1A	P36894	p.Ile277Val	rs1060503400	missense variant	-	NC_000010.11:g.86917287A>G	-
BMPR1A	P36894	p.Tyr278Ter	RCV000560723	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917292C>A	ClinVar
BMPR1A	P36894	p.Tyr278Ter	rs1230919713	stop gained	-	NC_000010.11:g.86917292C>A	gnomAD
BMPR1A	P36894	p.Gln279Pro	rs1469597503	missense variant	-	NC_000010.11:g.86917294A>C	gnomAD
BMPR1A	P36894	p.Thr280Ser	rs1064793497	missense variant	-	NC_000010.11:g.86917297C>G	gnomAD
BMPR1A	P36894	p.Thr280Ser	RCV000812306	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917297C>G	ClinVar
BMPR1A	P36894	p.Thr280Ser	RCV000485913	missense variant	-	NC_000010.11:g.86917297C>G	ClinVar
BMPR1A	P36894	p.Val281Met	rs141625907	missense variant	-	NC_000010.11:g.86917299G>A	ESP
BMPR1A	P36894	p.Val281Met	RCV000493216	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917299G>A	ClinVar
BMPR1A	P36894	p.Leu282Pro	rs1386615932	missense variant	-	NC_000010.11:g.86917303T>C	gnomAD
BMPR1A	P36894	p.Met283Ter	RCV000686579	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917305dup	ClinVar
BMPR1A	P36894	p.Arg284Cys	rs765530074	missense variant	-	NC_000010.11:g.86917308C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg284Gly	rs765530074	missense variant	-	NC_000010.11:g.86917308C>G	ExAC,gnomAD
BMPR1A	P36894	p.Arg284Cys	RCV000771718	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917308C>T	ClinVar
BMPR1A	P36894	p.Arg284Cys	RCV000230699	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917308C>T	ClinVar
BMPR1A	P36894	p.His285Asn	rs1162302623	missense variant	-	NC_000010.11:g.86917311C>A	gnomAD
BMPR1A	P36894	p.Asn287Tyr	rs763135904	missense variant	-	NC_000010.11:g.86917317A>T	ExAC,gnomAD
BMPR1A	P36894	p.Ile288Met	RCV000708675	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86917322A>G	ClinVar
BMPR1A	P36894	p.Leu289Ter	RCV000635448	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86917322dup	ClinVar
BMPR1A	P36894	p.Gly290Ala	RCV000213715	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919172G>C	ClinVar
BMPR1A	P36894	p.Gly290Ala	rs876660596	missense variant	-	NC_000010.11:g.86919172G>C	-
BMPR1A	P36894	p.Gly290Ala	RCV000815608	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919172G>C	ClinVar
BMPR1A	P36894	p.Ile292Ter	RCV000567580	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919177dup	ClinVar
BMPR1A	P36894	p.Ile292Val	rs746800007	missense variant	-	NC_000010.11:g.86919177A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asp295GlySerTerArgUnk	rs876659988	stop gained	-	NC_000010.11:g.86919187delinsGTTCATAGCGG	-
BMPR1A	P36894	p.Asp295GlySerTer	RCV000222176	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919187delinsGTTCATAGCGG	ClinVar
BMPR1A	P36894	p.Ile296Val	RCV000527955	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919189A>G	ClinVar
BMPR1A	P36894	p.Ile296Val	rs1554891019	missense variant	-	NC_000010.11:g.86919189A>G	-
BMPR1A	P36894	p.Ile296Thr	rs1554891022	missense variant	-	NC_000010.11:g.86919190T>C	-
BMPR1A	P36894	p.Ile296Thr	RCV000635478	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919190T>C	ClinVar
BMPR1A	P36894	p.Gly298Ser	RCV000758780	missense variant	-	NC_000010.11:g.86919195G>A	ClinVar
BMPR1A	P36894	p.Thr299Ala	rs876660756	missense variant	-	NC_000010.11:g.86919198A>G	-
BMPR1A	P36894	p.Thr299Arg	RCV000581360	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919199C>G	ClinVar
BMPR1A	P36894	p.Thr299Arg	rs1219651963	missense variant	-	NC_000010.11:g.86919199C>G	TOPMed
BMPR1A	P36894	p.Thr299Lys	rs1219651963	missense variant	-	NC_000010.11:g.86919199C>A	TOPMed
BMPR1A	P36894	p.Thr299Ala	RCV000221198	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919198A>G	ClinVar
BMPR1A	P36894	p.Gly300Arg	rs763040797	missense variant	-	NC_000010.11:g.86919201G>C	ExAC,gnomAD
BMPR1A	P36894	p.Gly300Ser	rs763040797	missense variant	-	NC_000010.11:g.86919201G>A	ExAC,gnomAD
BMPR1A	P36894	p.Ser301Tyr	RCV000217554	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919205C>A	ClinVar
BMPR1A	P36894	p.Ser301Tyr	rs876660939	missense variant	-	NC_000010.11:g.86919205C>A	TOPMed,gnomAD
BMPR1A	P36894	p.Ser301Thr	rs983870066	missense variant	-	NC_000010.11:g.86919204T>A	TOPMed
BMPR1A	P36894	p.Ser301Tyr	RCV000533725	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919205C>A	ClinVar
BMPR1A	P36894	p.Thr303Ala	RCV000582620	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919210A>G	ClinVar
BMPR1A	P36894	p.Thr303Ala	RCV000796584	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919210A>G	ClinVar
BMPR1A	P36894	p.Thr303Ala	rs1554891025	missense variant	-	NC_000010.11:g.86919210A>G	-
BMPR1A	P36894	p.Gln304Arg	RCV000766554	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Ter	rs1404557708	stop gained	-	NC_000010.11:g.86919213C>T	gnomAD
BMPR1A	P36894	p.Gln304Lys	RCV000548904	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>A	ClinVar
BMPR1A	P36894	p.Gln304Lys	rs1404557708	missense variant	-	NC_000010.11:g.86919213C>A	gnomAD
BMPR1A	P36894	p.Gln304Arg	RCV000411865	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Arg	RCV000159838	missense variant	-	NC_000010.11:g.86919214A>G	ClinVar
BMPR1A	P36894	p.Gln304Arg	rs730881434	missense variant	-	NC_000010.11:g.86919214A>G	ExAC,gnomAD
BMPR1A	P36894	p.Gln304Ter	RCV000635424	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919213C>T	ClinVar
BMPR1A	P36894	p.Leu305Arg	rs1453306253	missense variant	-	NC_000010.11:g.86919217T>G	gnomAD
BMPR1A	P36894	p.Tyr306Cys	RCV000464837	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220A>G	ClinVar
BMPR1A	P36894	p.Tyr306Cys	rs955604329	missense variant	-	NC_000010.11:g.86919220A>G	gnomAD
BMPR1A	P36894	p.Ile308Ter	RCV000459435	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919220_86919223dup	ClinVar
BMPR1A	P36894	p.Thr309Ser	RCV000583398	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919229C>G	ClinVar
BMPR1A	P36894	p.Thr309Ser	rs1276976514	missense variant	-	NC_000010.11:g.86919229C>G	TOPMed
BMPR1A	P36894	p.His312Tyr	rs1437385150	missense variant	-	NC_000010.11:g.86919237C>T	TOPMed
BMPR1A	P36894	p.His312Ter	RCV000466694	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919237del	ClinVar
BMPR1A	P36894	p.Asn314Ser	RCV000694892	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919244A>G	ClinVar
BMPR1A	P36894	p.Asn314Ser	RCV000758781	missense variant	-	NC_000010.11:g.86919244A>G	ClinVar
BMPR1A	P36894	p.Gly315Arg	RCV000235117	missense variant	-	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Gly315Ter	rs730881435	stop gained	-	NC_000010.11:g.86919246G>T	gnomAD
BMPR1A	P36894	p.Gly315Arg	RCV000463009	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Gly315Arg	rs730881435	missense variant	-	NC_000010.11:g.86919246G>A	gnomAD
BMPR1A	P36894	p.Gly315Arg	RCV000159839	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919246G>A	ClinVar
BMPR1A	P36894	p.Ser316Thr	rs1554891039	missense variant	-	NC_000010.11:g.86919249T>A	-
BMPR1A	P36894	p.Ser316Thr	RCV000635452	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919249T>A	ClinVar
BMPR1A	P36894	p.Tyr318Ser	rs587778111	missense variant	-	NC_000010.11:g.86919256A>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr318Cys	rs587778111	missense variant	-	NC_000010.11:g.86919256A>G	ExAC,gnomAD
BMPR1A	P36894	p.Tyr318Cys	RCV000410175	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Ser	RCV000775810	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>C	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000656785	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Ser	RCV000462820	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919256A>C	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000567105	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Tyr318Cys	RCV000120250	missense variant	-	NC_000010.11:g.86919256A>G	ClinVar
BMPR1A	P36894	p.Phe320Ter	RCV000563459	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919264del	ClinVar
BMPR1A	P36894	p.Phe320Ter	RCV000527295	frameshift	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919260dup	ClinVar
BMPR1A	P36894	p.Lys322Ter	rs1131691167	stop gained	-	NC_000010.11:g.86919267A>T	gnomAD
BMPR1A	P36894	p.Lys322Gln	rs1131691167	missense variant	-	NC_000010.11:g.86919267A>C	gnomAD
BMPR1A	P36894	p.Lys322Ter	RCV000492964	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919267A>T	ClinVar
BMPR1A	P36894	p.Cys323Ser	RCV000216595	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>A	ClinVar
BMPR1A	P36894	p.Cys323Arg	RCV000570171	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919270T>C	ClinVar
BMPR1A	P36894	p.Cys323Tyr	rs187780646	missense variant	-	NC_000010.11:g.86919271G>A	1000Genomes,ExAC
BMPR1A	P36894	p.Cys323Ser	rs876660750	missense variant	-	NC_000010.11:g.86919270T>A	-
BMPR1A	P36894	p.Cys323Arg	RCV000457915	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919270T>C	ClinVar
BMPR1A	P36894	p.Cys323Arg	rs876660750	missense variant	-	NC_000010.11:g.86919270T>C	-
BMPR1A	P36894	p.Thr325Ala	RCV000541894	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919276A>G	ClinVar
BMPR1A	P36894	p.Thr325Ala	RCV000777203	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919276A>G	ClinVar
BMPR1A	P36894	p.Thr325Ala	rs1554891047	missense variant	-	NC_000010.11:g.86919276A>G	-
BMPR1A	P36894	p.Leu326Val	RCV000582761	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919279C>G	ClinVar
BMPR1A	P36894	p.Leu326Val	rs1554891050	missense variant	-	NC_000010.11:g.86919279C>G	-
BMPR1A	P36894	p.Asp327Gly	rs764376409	missense variant	-	NC_000010.11:g.86919283A>G	ExAC,gnomAD
BMPR1A	P36894	p.Thr328Ser	RCV000526492	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919286C>G	ClinVar
BMPR1A	P36894	p.Thr328Ser	rs1554891053	missense variant	-	NC_000010.11:g.86919286C>G	-
BMPR1A	P36894	p.Arg329Lys	RCV000779840	missense variant	-	NC_000010.11:g.86919289G>A	ClinVar
BMPR1A	P36894	p.Arg329Thr	RCV000541085	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919289G>C	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000465582	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Thr	rs1554891054	missense variant	-	NC_000010.11:g.86919289G>C	-
BMPR1A	P36894	p.Arg329Ser	rs753521037	missense variant	-	NC_000010.11:g.86919290A>C	ExAC,gnomAD
BMPR1A	P36894	p.Arg329Ter	RCV000657424	frameshift	-	NC_000010.11:g.86919290_86919295delinsTGTA	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000561962	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Arg329Ser	RCV000588080	missense variant	-	NC_000010.11:g.86919290A>C	ClinVar
BMPR1A	P36894	p.Ala330Val	rs587782092	missense variant	-	NC_000010.11:g.86919292C>T	gnomAD
BMPR1A	P36894	p.Ala330Thr	rs927151124	missense variant	-	NC_000010.11:g.86919291G>A	TOPMed
BMPR1A	P36894	p.Ala330Thr	RCV000456972	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919291G>A	ClinVar
BMPR1A	P36894	p.Ala330Val	RCV000130601	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919292C>T	ClinVar
BMPR1A	P36894	p.Leu331Val	rs1554891064	missense variant	-	NC_000010.11:g.86919294C>G	-
BMPR1A	P36894	p.Leu331Val	RCV000580998	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919294C>G	ClinVar
BMPR1A	P36894	p.Leu332Pro	rs1064793886	missense variant	-	NC_000010.11:g.86919298T>C	gnomAD
BMPR1A	P36894	p.Leu332Pro	RCV000584023	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919298T>C	ClinVar
BMPR1A	P36894	p.Leu332Pro	RCV000484515	missense variant	-	NC_000010.11:g.86919298T>C	ClinVar
BMPR1A	P36894	p.Lys333Asn	rs1480528360	missense variant	-	NC_000010.11:g.86919302A>T	TOPMed,gnomAD
BMPR1A	P36894	p.Leu334Ser	rs915929375	missense variant	-	NC_000010.11:g.86919304T>C	TOPMed
BMPR1A	P36894	p.Leu334Met	rs749873461	missense variant	-	NC_000010.11:g.86919303T>A	ExAC,gnomAD
BMPR1A	P36894	p.Tyr336His	rs876658840	missense variant	-	NC_000010.11:g.86919309T>C	-
BMPR1A	P36894	p.Tyr336His	RCV000216334	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919309T>C	ClinVar
BMPR1A	P36894	p.Ser337Leu	RCV000582821	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>T	ClinVar
BMPR1A	P36894	p.Ser337Ter	RCV000569696	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919313C>A	ClinVar
BMPR1A	P36894	p.Ser337Ter	rs1554891075	stop gained	-	NC_000010.11:g.86919313C>A	-
BMPR1A	P36894	p.Ser337Leu	rs1554891075	missense variant	-	NC_000010.11:g.86919313C>T	-
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>A	TOPMed
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>A	TOPMed
BMPR1A	P36894	p.Ala338Asp	rs199476086	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt,dbSNP
BMPR1A	P36894	p.Ala338Asp	VAR_015534	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919316C>A	UniProt
BMPR1A	P36894	p.Ala338Val	rs199476086	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919316C>T	TOPMed
BMPR1A	P36894	p.Ala338Asp	RCV000566713	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919316C>A	ClinVar
BMPR1A	P36894	p.Ala339Thr	rs758432395	missense variant	-	NC_000010.11:g.86919318G>A	ExAC,gnomAD
BMPR1A	P36894	p.Gly341Asp	RCV000703322	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919325G>A	ClinVar
BMPR1A	P36894	p.Gly341Ser	RCV000562882	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>A	ClinVar
BMPR1A	P36894	p.Gly341Cys	RCV000564091	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919324G>T	ClinVar
BMPR1A	P36894	p.His346Arg	rs587782536	missense variant	-	NC_000010.11:g.86919340A>G	-
BMPR1A	P36894	p.His346Arg	RCV000131740	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919340A>G	ClinVar
BMPR1A	P36894	p.Glu348Asp	RCV000579475	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919347A>C	ClinVar
BMPR1A	P36894	p.Glu348Asp	rs781082609	missense variant	-	NC_000010.11:g.86919347A>T	ExAC,gnomAD
BMPR1A	P36894	p.Glu348Gln	rs1060503398	missense variant	-	NC_000010.11:g.86919345G>C	-
BMPR1A	P36894	p.Glu348Gln	RCV000472607	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919345G>C	ClinVar
BMPR1A	P36894	p.Glu348Asp	rs781082609	missense variant	-	NC_000010.11:g.86919347A>C	ExAC,gnomAD
BMPR1A	P36894	p.Glu348Asp	RCV000548785	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919347A>T	ClinVar
BMPR1A	P36894	p.Tyr350His	RCV000820356	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Tyr350His	rs749571434	missense variant	-	NC_000010.11:g.86919351T>C	ExAC,gnomAD
BMPR1A	P36894	p.Tyr350His	RCV000575787	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Tyr350His	RCV000759474	missense variant	-	NC_000010.11:g.86919351T>C	ClinVar
BMPR1A	P36894	p.Gln353Arg	RCV000527621	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919361A>G	ClinVar
BMPR1A	P36894	p.Gln353Arg	RCV000580162	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361A>G	ClinVar
BMPR1A	P36894	p.Gln353Arg	rs1405441693	missense variant	-	NC_000010.11:g.86919361A>G	TOPMed
BMPR1A	P36894	p.Gly354Ala	rs1406950391	missense variant	-	NC_000010.11:g.86919364G>C	gnomAD
BMPR1A	P36894	p.Gly354Ter	RCV000493671	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919361_86919362dup	ClinVar
BMPR1A	P36894	p.Gly354Ter	RCV000569032	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919364del	ClinVar
BMPR1A	P36894	p.Lys355Ter	RCV000776619	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919368del	ClinVar
BMPR1A	P36894	p.Pro356Ser	rs774555805	missense variant	-	NC_000010.11:g.86919369C>T	ExAC,gnomAD
BMPR1A	P36894	p.Pro356Ser	RCV000572363	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919369C>T	ClinVar
BMPR1A	P36894	p.Ala357Ser	rs201509164	missense variant	-	NC_000010.11:g.86919372G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala357Thr	rs201509164	missense variant	-	NC_000010.11:g.86919372G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ala357Thr	RCV000478306	missense variant	-	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Ala357Thr	RCV000461013	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Ala357Thr	RCV000567914	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919372G>A	ClinVar
BMPR1A	P36894	p.Arg361Ter	RCV000461272	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919384C>T	ClinVar
BMPR1A	P36894	p.Arg361Gly	RCV000579633	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>G	ClinVar
BMPR1A	P36894	p.Arg361Ter	rs764466442	stop gained	-	NC_000010.11:g.86919384C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg361Gln	rs730881436	missense variant	-	NC_000010.11:g.86919385G>A	-
BMPR1A	P36894	p.Arg361Gly	rs764466442	missense variant	-	NC_000010.11:g.86919384C>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg361Gln	RCV000159840	missense variant	-	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000530820	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Gln	RCV000772718	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919385G>A	ClinVar
BMPR1A	P36894	p.Arg361Ter	RCV000162430	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919384C>T	ClinVar
BMPR1A	P36894	p.Asp362Asn	RCV000693269	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919387G>A	ClinVar
BMPR1A	P36894	p.Asp362Asn	RCV000772196	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919387G>A	ClinVar
BMPR1A	P36894	p.Lys366Arg	RCV000773788	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919400A>G	ClinVar
BMPR1A	P36894	p.Lys366Asn	rs1060503397	missense variant	-	NC_000010.11:g.86919401A>C	-
BMPR1A	P36894	p.Lys366Asn	RCV000467828	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919401A>C	ClinVar
BMPR1A	P36894	p.Lys366Asn	RCV000759475	missense variant	-	NC_000010.11:g.86919401A>C	ClinVar
BMPR1A	P36894	p.Asn367Ter	RCV000563858	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919404del	ClinVar
BMPR1A	P36894	p.Lys371Thr	rs1490421596	missense variant	-	NC_000010.11:g.86919415A>C	gnomAD
BMPR1A	P36894	p.Lys372Glu	rs1315674155	missense variant	-	NC_000010.11:g.86919417A>G	TOPMed
BMPR1A	P36894	p.Asn373Ser	rs1281108621	missense variant	-	NC_000010.11:g.86919421A>G	TOPMed
BMPR1A	P36894	p.Cys376Trp	RCV000493424	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919431C>G	ClinVar
BMPR1A	P36894	p.Cys376Ser	RCV000772243	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919429T>A	ClinVar
BMPR1A	P36894	p.Cys376Trp	rs1131691177	missense variant	-	NC_000010.11:g.86919431C>G	-
BMPR1A	P36894	p.Cys376Tyr	rs199476088	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt,dbSNP
BMPR1A	P36894	p.Cys376Tyr	VAR_015535	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	UniProt
BMPR1A	P36894	p.Cys376Tyr	rs199476088	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86919430G>A	-
BMPR1A	P36894	p.Cys376Tyr	RCV000008718	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919430G>A	ClinVar
BMPR1A	P36894	p.Leu381Val	RCV000478590	missense variant	-	NC_000010.11:g.86919444C>G	ClinVar
BMPR1A	P36894	p.Leu381Val	RCV000206145	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919444C>G	ClinVar
BMPR1A	P36894	p.Leu381Val	rs864622566	missense variant	-	NC_000010.11:g.86919444C>G	-
BMPR1A	P36894	p.Val385Ile	rs1060503396	missense variant	-	NC_000010.11:g.86919456G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Val385Ile	RCV000779842	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000563011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000472543	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Val385Ile	RCV000759476	missense variant	-	NC_000010.11:g.86919456G>A	ClinVar
BMPR1A	P36894	p.Ser389Ile	RCV000565079	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86919469G>T	ClinVar
BMPR1A	P36894	p.Ser389Ile	RCV000541560	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>T	ClinVar
BMPR1A	P36894	p.Ser389Asn	rs879254049	missense variant	-	NC_000010.11:g.86919469G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Ser389Ile	rs879254049	missense variant	-	NC_000010.11:g.86919469G>T	TOPMed,gnomAD
BMPR1A	P36894	p.Ser389Arg	RCV000696953	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921520T>G	ClinVar
BMPR1A	P36894	p.Ser389Asn	RCV000477534	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86919469G>A	ClinVar
BMPR1A	P36894	p.Ser389Asn	RCV000236250	missense variant	-	NC_000010.11:g.86919469G>A	ClinVar
BMPR1A	P36894	p.Asp390Asn	RCV000486499	missense variant	-	NC_000010.11:g.86921521G>A	ClinVar
BMPR1A	P36894	p.Asp390Asn	rs1064794827	missense variant	-	NC_000010.11:g.86921521G>A	-
BMPR1A	P36894	p.Thr391Ser	RCV000556248	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921524A>T	ClinVar
BMPR1A	P36894	p.Thr391Ser	rs1554891310	missense variant	-	NC_000010.11:g.86921524A>T	-
BMPR1A	P36894	p.Asn392Ser	rs1554891311	missense variant	-	NC_000010.11:g.86921528A>G	-
BMPR1A	P36894	p.Asn392Ser	RCV000583018	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921528A>G	ClinVar
BMPR1A	P36894	p.Asn392Ser	RCV000522509	missense variant	-	NC_000010.11:g.86921528A>G	ClinVar
BMPR1A	P36894	p.Val396Met	rs1161972977	missense variant	-	NC_000010.11:g.86921539G>A	gnomAD
BMPR1A	P36894	p.Pro397Leu	rs878854662	missense variant	-	NC_000010.11:g.86921543C>T	-
BMPR1A	P36894	p.Pro397Arg	RCV000780964	missense variant	-	NC_000010.11:g.86921543C>G	ClinVar
BMPR1A	P36894	p.Pro397Leu	RCV000228257	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921543C>T	ClinVar
BMPR1A	P36894	p.Asn399Ser	RCV000560017	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921549A>G	ClinVar
BMPR1A	P36894	p.Asn399Asp	RCV000563262	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921548A>G	ClinVar
BMPR1A	P36894	p.Asn399Asp	rs1554891313	missense variant	-	NC_000010.11:g.86921548A>G	-
BMPR1A	P36894	p.Asn399Ser	rs1554891315	missense variant	-	NC_000010.11:g.86921549A>G	-
BMPR1A	P36894	p.Thr400Asn	RCV000635453	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921552C>A	ClinVar
BMPR1A	P36894	p.Thr400Asn	rs1554891317	missense variant	-	NC_000010.11:g.86921552C>A	-
BMPR1A	P36894	p.Val402Gly	rs1298646773	missense variant	-	NC_000010.11:g.86921558T>G	gnomAD
BMPR1A	P36894	p.Val402Met	rs1462602717	missense variant	-	NC_000010.11:g.86921557G>A	gnomAD
BMPR1A	P36894	p.Lys405Asn	rs587781522	missense variant	-	NC_000010.11:g.86921568A>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Lys405Arg	rs1064795593	missense variant	-	NC_000010.11:g.86921567A>G	-
BMPR1A	P36894	p.Lys405Arg	RCV000692348	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921567A>G	ClinVar
BMPR1A	P36894	p.Lys405Asn	RCV000590666	missense variant	-	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Asn	RCV000409039	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Asn	RCV000129512	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921568A>C	ClinVar
BMPR1A	P36894	p.Lys405Arg	RCV000483970	missense variant	-	NC_000010.11:g.86921567A>G	ClinVar
BMPR1A	P36894	p.Arg406Cys	rs587781332	missense variant	-	NC_000010.11:g.86921569C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg406His	rs587780107	missense variant	-	NC_000010.11:g.86921570G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Arg406Cys	RCV000519920	missense variant	-	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000635445	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000233959	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406Cys	RCV000129084	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921569C>T	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000679546	missense variant	-	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406Leu	RCV000656727	missense variant	BMPR1A Skeletal Dysplasia Syndrome	NC_000010.11:g.86921570G>T	ClinVar
BMPR1A	P36894	p.Arg406His	RCV000561496	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921570G>A	ClinVar
BMPR1A	P36894	p.Arg406Leu	rs587780107	missense variant	-	NC_000010.11:g.86921570G>T	TOPMed,gnomAD
BMPR1A	P36894	p.Tyr407Cys	rs1554891322	missense variant	-	NC_000010.11:g.86921573A>G	-
BMPR1A	P36894	p.Tyr407Cys	RCV000568210	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921573A>G	ClinVar
BMPR1A	P36894	p.Tyr407Ter	RCV000779843	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921574C>G	ClinVar
BMPR1A	P36894	p.Ala409Thr	rs1554891324	missense variant	-	NC_000010.11:g.86921578G>A	-
BMPR1A	P36894	p.Ala409Thr	RCV000635421	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921578G>A	ClinVar
BMPR1A	P36894	p.Glu411Lys	RCV000463942	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921584G>A	ClinVar
BMPR1A	P36894	p.Glu411Lys	rs786202611	missense variant	-	NC_000010.11:g.86921584G>A	-
BMPR1A	P36894	p.Glu411Lys	RCV000165505	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921584G>A	ClinVar
BMPR1A	P36894	p.Val412Ala	rs576247658	missense variant	-	NC_000010.11:g.86921588T>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val412Ala	RCV000589484	missense variant	-	NC_000010.11:g.86921588T>C	ClinVar
BMPR1A	P36894	p.Asp414Gly	rs1409093791	missense variant	-	NC_000010.11:g.86921594A>G	TOPMed
BMPR1A	P36894	p.Asp414Asn	RCV000635451	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921593G>A	ClinVar
BMPR1A	P36894	p.Asp414Glu	rs767296986	missense variant	-	NC_000010.11:g.86921595C>G	gnomAD
BMPR1A	P36894	p.Asp414Asn	rs1554891329	missense variant	-	NC_000010.11:g.86921593G>A	-
BMPR1A	P36894	p.Asp414Glu	RCV000805463	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921595C>G	ClinVar
BMPR1A	P36894	p.Asp414Glu	RCV000580614	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921595C>G	ClinVar
BMPR1A	P36894	p.Glu415Lys	rs140592056	missense variant	-	NC_000010.11:g.86921596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu415Asp	rs786204235	missense variant	-	NC_000010.11:g.86921598A>C	gnomAD
BMPR1A	P36894	p.Glu415Asp	RCV000168387	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Asp	RCV000587976	missense variant	-	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Glu415Ter	RCV000484302	frameshift	-	NC_000010.11:g.86921596_86921597delinsTTTC	ClinVar
BMPR1A	P36894	p.Glu415Lys	RCV000120252	missense variant	-	NC_000010.11:g.86921596G>A	ClinVar
BMPR1A	P36894	p.Glu415Asp	RCV000573444	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598A>C	ClinVar
BMPR1A	P36894	p.Ser416Asn	RCV000457437	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921600G>A	ClinVar
BMPR1A	P36894	p.Ser416Asn	rs1060503395	missense variant	-	NC_000010.11:g.86921600G>A	-
BMPR1A	P36894	p.Ser416Ter	RCV000571812	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921598_86921599dup	ClinVar
BMPR1A	P36894	p.Leu417Val	RCV000685715	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921602C>G	ClinVar
BMPR1A	P36894	p.Asn420Lys	RCV000218661	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921613C>A	ClinVar
BMPR1A	P36894	p.Asn420Lys	rs876660798	missense variant	-	NC_000010.11:g.86921613C>A	TOPMed
BMPR1A	P36894	p.Asn420Ser	rs1478085865	missense variant	-	NC_000010.11:g.86921612A>G	TOPMed
BMPR1A	P36894	p.Asn420Lys	rs876660798	missense variant	-	NC_000010.11:g.86921613C>G	TOPMed
BMPR1A	P36894	p.His421Tyr	RCV000635410	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921614C>T	ClinVar
BMPR1A	P36894	p.His421Tyr	rs1554891338	missense variant	-	NC_000010.11:g.86921614C>T	-
BMPR1A	P36894	p.Gln423His	rs1198334501	missense variant	-	NC_000010.11:g.86921622G>T	gnomAD
BMPR1A	P36894	p.Pro424Ser	RCV000580537	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921623C>T	ClinVar
BMPR1A	P36894	p.Pro424Ser	rs201362537	missense variant	-	NC_000010.11:g.86921623C>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Pro424Ser	RCV000819098	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921623C>T	ClinVar
BMPR1A	P36894	p.Tyr425Phe	rs758599378	missense variant	-	NC_000010.11:g.86921627A>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Tyr425Phe	RCV000195582	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921627A>T	ClinVar
BMPR1A	P36894	p.Tyr425Phe	RCV000222403	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921627A>T	ClinVar
BMPR1A	P36894	p.Ile426Leu	RCV000459702	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>C	ClinVar
BMPR1A	P36894	p.Ile426Leu	RCV000564181	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921629A>C	ClinVar
BMPR1A	P36894	p.Ile426Val	rs780148965	missense variant	-	NC_000010.11:g.86921629A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile426Leu	rs780148965	missense variant	-	NC_000010.11:g.86921629A>C	ExAC,gnomAD
BMPR1A	P36894	p.Ile426Val	RCV000198104	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921629A>G	ClinVar
BMPR1A	P36894	p.Met427Val	rs747090661	missense variant	-	NC_000010.11:g.86921632A>G	ExAC,gnomAD
BMPR1A	P36894	p.Met427Ile	rs769212314	missense variant	-	NC_000010.11:g.86921634G>A	ExAC,gnomAD
BMPR1A	P36894	p.Tyr431Cys	rs1554891343	missense variant	-	NC_000010.11:g.86921645A>G	-
BMPR1A	P36894	p.Tyr431Cys	RCV000569279	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921645A>G	ClinVar
BMPR1A	P36894	p.Gly434Ser	rs587780108	missense variant	-	NC_000010.11:g.86921653G>A	TOPMed,gnomAD
BMPR1A	P36894	p.Gly434Ser	RCV000476402	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Gly434Ser	RCV000115827	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Gly434Ser	RCV000212149	missense variant	-	NC_000010.11:g.86921653G>A	ClinVar
BMPR1A	P36894	p.Ile436Val	RCV000199311	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921659A>G	ClinVar
BMPR1A	P36894	p.Ile436Val	rs863224718	missense variant	-	NC_000010.11:g.86921659A>G	-
BMPR1A	P36894	p.Ile437Val	rs770073861	missense variant	-	NC_000010.11:g.86921662A>G	ExAC,gnomAD
BMPR1A	P36894	p.Trp438Ter	RCV000690555	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921667G>A	ClinVar
BMPR1A	P36894	p.Met440Val	RCV000566385	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921671A>G	ClinVar
BMPR1A	P36894	p.Met440Val	RCV000797683	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921671A>G	ClinVar
BMPR1A	P36894	p.Met440Ile	RCV000635466	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921673G>A	ClinVar
BMPR1A	P36894	p.Met440Val	rs1327393432	missense variant	-	NC_000010.11:g.86921671A>G	TOPMed
BMPR1A	P36894	p.Met440Ile	rs1554891352	missense variant	-	NC_000010.11:g.86921673G>A	-
BMPR1A	P36894	p.Ala441Val	RCV000704945	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921675C>T	ClinVar
BMPR1A	P36894	p.Ala441Ser	rs762731644	missense variant	-	NC_000010.11:g.86921674G>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg442His	RCV000635444	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921678G>A	ClinVar
BMPR1A	P36894	p.Arg442Cys	rs587782496	missense variant	-	NC_000010.11:g.86921677C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Arg442His	rs1554891354	missense variant	-	NC_000010.11:g.86921678G>A	-
BMPR1A	P36894	p.Arg442Cys	RCV000131624	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921677C>T	ClinVar
BMPR1A	P36894	p.Arg442Cys	RCV000459415	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921677C>T	ClinVar
BMPR1A	P36894	p.Arg443Cys	RCV000123222	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	ClinVar
BMPR1A	P36894	p.Arg443His	RCV000216122	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921681G>A	ClinVar
BMPR1A	P36894	p.Arg443Cys	rs35619497	missense variant	-	NC_000010.11:g.86921680C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg443Cys	rs35619497	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt,dbSNP
BMPR1A	P36894	p.Arg443Cys	VAR_022831	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921680C>T	UniProt
BMPR1A	P36894	p.Arg443His	rs876659155	missense variant	-	NC_000010.11:g.86921681G>A	-
BMPR1A	P36894	p.Arg443Cys	RCV000130683	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921680C>T	ClinVar
BMPR1A	P36894	p.Cys444Arg	rs774061725	missense variant	-	NC_000010.11:g.86921683T>C	ExAC,gnomAD
BMPR1A	P36894	p.Cys444Arg	RCV000507271	missense variant	-	NC_000010.11:g.86921683T>C	ClinVar
BMPR1A	P36894	p.Ile445Val	rs587781503	missense variant	-	NC_000010.11:g.86921686A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Ile445Val	RCV000557878	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000779844	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000129478	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Ile445Val	RCV000484454	missense variant	-	NC_000010.11:g.86921686A>G	ClinVar
BMPR1A	P36894	p.Gly448Glu	rs1475630647	missense variant	-	NC_000010.11:g.86923376G>A	TOPMed
BMPR1A	P36894	p.Ile449Thr	rs587781884	missense variant	-	NC_000010.11:g.86923379T>C	-
BMPR1A	P36894	p.Ile449Thr	RCV000698507	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923379T>C	ClinVar
BMPR1A	P36894	p.Ile449Thr	RCV000130214	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923379T>C	ClinVar
BMPR1A	P36894	p.Val450Leu	rs55932635	missense variant	-	NC_000010.11:g.86923381G>C	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val450Met	rs55932635	missense variant	-	NC_000010.11:g.86923381G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val450Met	RCV000130813	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923381G>A	ClinVar
BMPR1A	P36894	p.Val450Leu	RCV000551563	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923381G>C	ClinVar
BMPR1A	P36894	p.Gln454Ter	rs1554891570	stop gained	-	NC_000010.11:g.86923393C>T	-
BMPR1A	P36894	p.Gln454Ter	RCV000569373	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923393C>T	ClinVar
BMPR1A	P36894	p.Gln454Ter	RCV000801917	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923393C>T	ClinVar
BMPR1A	P36894	p.Leu455Ser	rs1554891572	missense variant	-	NC_000010.11:g.86923397T>C	-
BMPR1A	P36894	p.Leu455Ser	RCV000635468	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923397T>C	ClinVar
BMPR1A	P36894	p.Leu455Phe	rs753694209	missense variant	-	NC_000010.11:g.86923398G>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Leu455Phe	RCV000540010	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923398G>T	ClinVar
BMPR1A	P36894	p.Tyr458Ter	RCV000701773	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923407C>A	ClinVar
BMPR1A	P36894	p.Asn459Ser	RCV000779841	missense variant	-	NC_000010.11:g.86923409A>G	ClinVar
BMPR1A	P36894	p.Met460Ile	rs1206243685	missense variant	-	NC_000010.11:g.86923413G>C	TOPMed
BMPR1A	P36894	p.Met460Val	rs761612520	missense variant	-	NC_000010.11:g.86923411A>G	ExAC,gnomAD
BMPR1A	P36894	p.Met460Ile	RCV000580906	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923413G>C	ClinVar
BMPR1A	P36894	p.Met460Ile	RCV000550225	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923413G>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000763677	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000482353	missense variant	-	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000796815	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	RCV000164562	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923412T>C	ClinVar
BMPR1A	P36894	p.Met460Thr	rs758309022	missense variant	-	NC_000010.11:g.86923412T>C	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met460Thr	rs758309022	missense variant	-	NC_000010.11:g.86923412T>C	UniProt,dbSNP
BMPR1A	P36894	p.Met460Thr	VAR_077353	missense variant	-	NC_000010.11:g.86923412T>C	UniProt
BMPR1A	P36894	p.Val461Leu	rs1160800840	missense variant	-	NC_000010.11:g.86923414G>T	gnomAD
BMPR1A	P36894	p.Pro462Ser	rs1358264691	missense variant	-	NC_000010.11:g.86923417C>T	gnomAD
BMPR1A	P36894	p.Pro462Leu	rs1418504897	missense variant	-	NC_000010.11:g.86923418C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Pro462Leu	RCV000635440	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923418C>T	ClinVar
BMPR1A	P36894	p.Asp464Val	rs1367928891	missense variant	-	NC_000010.11:g.86923424A>T	gnomAD
BMPR1A	P36894	p.Tyr467Ter	RCV000574255	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923434C>A	ClinVar
BMPR1A	P36894	p.Tyr467Ter	rs149787558	stop gained	-	NC_000010.11:g.86923434C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu468Gln	RCV000519728	missense variant	-	NC_000010.11:g.86923435G>C	ClinVar
BMPR1A	P36894	p.Glu468Gln	rs199907158	missense variant	-	NC_000010.11:g.86923435G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu468Lys	rs199907158	missense variant	-	NC_000010.11:g.86923435G>A	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Glu468Lys	RCV000635476	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923435G>A	ClinVar
BMPR1A	P36894	p.Asp469Asn	RCV000479202	missense variant	-	NC_000010.11:g.86923438G>A	ClinVar
BMPR1A	P36894	p.Asp469Asn	rs1064794161	missense variant	-	NC_000010.11:g.86923438G>A	-
BMPR1A	P36894	p.Met470Thr	rs199476089	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt,dbSNP
BMPR1A	P36894	p.Met470Thr	VAR_022832	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923442T>C	UniProt
BMPR1A	P36894	p.Met470Thr	rs199476089	missense variant	Juvenile polyposis syndrome (jps)	NC_000010.11:g.86923442T>C	-
BMPR1A	P36894	p.Met470Ile	rs749743579	missense variant	-	NC_000010.11:g.86923443G>A	ExAC,gnomAD
BMPR1A	P36894	p.Met470Thr	RCV000569040	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923442T>C	ClinVar
BMPR1A	P36894	p.Met470Ile	RCV000576105	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923443G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	RCV000688695	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Arg471His	RCV000580005	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923445G>A	ClinVar
BMPR1A	P36894	p.Arg471Cys	rs771452619	missense variant	-	NC_000010.11:g.86923444C>T	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg471Cys	RCV000581065	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Arg471His	rs779371501	missense variant	-	NC_000010.11:g.86923445G>A	ExAC,gnomAD
BMPR1A	P36894	p.Arg471Cys	RCV000757031	missense variant	-	NC_000010.11:g.86923444C>T	ClinVar
BMPR1A	P36894	p.Arg471His	RCV000703304	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923445G>A	ClinVar
BMPR1A	P36894	p.Glu472Asp	RCV000573530	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923449G>C	ClinVar
BMPR1A	P36894	p.Glu472Asp	rs1410256559	missense variant	-	NC_000010.11:g.86923449G>C	TOPMed
BMPR1A	P36894	p.Glu472Lys	rs587782836	missense variant	-	NC_000010.11:g.86923447G>A	-
BMPR1A	P36894	p.Glu472Lys	RCV000132424	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923447G>A	ClinVar
BMPR1A	P36894	p.Glu472Asp	RCV000690147	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923449G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	rs567733221	missense variant	-	NC_000010.11:g.86923453G>C	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val474Leu	rs567733221	missense variant	-	NC_000010.11:g.86923453G>T	1000Genomes,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Val474Leu	RCV000481877	missense variant	-	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	RCV000129399	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Val474Leu	RCV000467583	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923453G>C	ClinVar
BMPR1A	P36894	p.Lys477Arg	rs767995260	missense variant	-	NC_000010.11:g.86923463A>G	ExAC,gnomAD
BMPR1A	P36894	p.Lys477Ile	RCV000656578	missense variant	-	NC_000010.11:g.86923463A>T	ClinVar
BMPR1A	P36894	p.Lys477Ile	rs767995260	missense variant	-	NC_000010.11:g.86923463A>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg478Cys	RCV000561021	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478Leu	RCV000772719	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923466G>T	ClinVar
BMPR1A	P36894	p.Arg478Leu	rs113849804	missense variant	-	NC_000010.11:g.86923466G>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478His	RCV000235579	missense variant	-	NC_000010.11:g.86923466G>A	ClinVar
BMPR1A	P36894	p.Arg478His	RCV000515344	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923466G>A	ClinVar
BMPR1A	P36894	p.Arg478Cys	rs372178531	missense variant	-	NC_000010.11:g.86923465C>T	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478His	rs113849804	missense variant	-	NC_000010.11:g.86923466G>A	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg478Cys	RCV000468095	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg478Cys	RCV000236117	missense variant	-	NC_000010.11:g.86923465C>T	ClinVar
BMPR1A	P36894	p.Arg480Gln	rs535109719	missense variant	-	NC_000010.11:g.86923472G>A	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Arg480Leu	rs535109719	missense variant	-	NC_000010.11:g.86923472G>T	1000Genomes,ExAC,gnomAD
BMPR1A	P36894	p.Arg480Leu	RCV000216078	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923472G>T	ClinVar
BMPR1A	P36894	p.Arg480Leu	RCV000692641	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923472G>T	ClinVar
BMPR1A	P36894	p.Arg480Trp	RCV000466486	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923471C>T	ClinVar
BMPR1A	P36894	p.Arg480Trp	RCV000513335	missense variant	-	NC_000010.11:g.86923471C>T	ClinVar
BMPR1A	P36894	p.Ile482Val	RCV000776412	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923477A>G	ClinVar
BMPR1A	P36894	p.Ile482Val	rs974639091	missense variant	-	NC_000010.11:g.86923477A>G	TOPMed,gnomAD
BMPR1A	P36894	p.Ile482Val	RCV000539230	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923477A>G	ClinVar
BMPR1A	P36894	p.Val483Met	rs1163897191	missense variant	-	NC_000010.11:g.86923480G>A	gnomAD
BMPR1A	P36894	p.Ser484Thr	rs1554891611	missense variant	-	NC_000010.11:g.86923483T>A	-
BMPR1A	P36894	p.Ser484Thr	RCV000635465	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923483T>A	ClinVar
BMPR1A	P36894	p.Ser484Thr	RCV000774893	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923483T>A	ClinVar
BMPR1A	P36894	p.Arg486Trp	RCV000553989	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923489C>T	ClinVar
BMPR1A	P36894	p.Arg486Gln	RCV000635446	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923490G>A	ClinVar
BMPR1A	P36894	p.Arg486Gln	RCV000563574	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923490G>A	ClinVar
BMPR1A	P36894	p.Arg486Trp	rs767763451	missense variant	-	NC_000010.11:g.86923489C>T	ExAC,gnomAD
BMPR1A	P36894	p.Arg486Trp	RCV000568540	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923489C>T	ClinVar
BMPR1A	P36894	p.Arg486Gln	rs752802257	missense variant	-	NC_000010.11:g.86923490G>A	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Arg486Gln	rs752802257	missense variant	-	NC_000010.11:g.86923490G>A	UniProt,dbSNP
BMPR1A	P36894	p.Arg486Gln	VAR_041400	missense variant	-	NC_000010.11:g.86923490G>A	UniProt
BMPR1A	P36894	p.Trp487Ter	RCV000493497	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923493G>A	ClinVar
BMPR1A	P36894	p.Trp487Ter	rs1131691175	stop gained	-	NC_000010.11:g.86923493G>A	-
BMPR1A	P36894	p.Asn488Asp	rs1554891616	missense variant	-	NC_000010.11:g.86923495A>G	-
BMPR1A	P36894	p.Asn488Asp	RCV000579939	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923495A>G	ClinVar
BMPR1A	P36894	p.Ser489Thr	RCV000777189	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923499G>C	ClinVar
BMPR1A	P36894	p.Ser489Thr	RCV000532258	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923499G>C	ClinVar
BMPR1A	P36894	p.Ser489Thr	rs1554891617	missense variant	-	NC_000010.11:g.86923499G>C	-
BMPR1A	P36894	p.Asp490Gly	rs756222157	missense variant	-	NC_000010.11:g.86923502A>G	ExAC,gnomAD
BMPR1A	P36894	p.Asp490Gly	RCV000565108	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923502A>G	ClinVar
BMPR1A	P36894	p.Glu491Lys	rs1329735599	missense variant	-	NC_000010.11:g.86923504G>A	gnomAD
BMPR1A	P36894	p.Glu491Lys	RCV000580662	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923504G>A	ClinVar
BMPR1A	P36894	p.Glu491Lys	RCV000635420	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923504G>A	ClinVar
BMPR1A	P36894	p.Cys492Tyr	RCV000575987	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>A	ClinVar
BMPR1A	P36894	p.Cys492Arg	rs764319366	missense variant	-	NC_000010.11:g.86923594T>C	ExAC,gnomAD
BMPR1A	P36894	p.Cys492Phe	rs1256130183	missense variant	-	NC_000010.11:g.86923595G>T	gnomAD
BMPR1A	P36894	p.Cys492Tyr	rs1256130183	missense variant	-	NC_000010.11:g.86923595G>A	gnomAD
BMPR1A	P36894	p.Cys492Phe	RCV000564886	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923595G>T	ClinVar
BMPR1A	P36894	p.Arg494Ter	rs786201040	stop gained	-	NC_000010.11:g.86923600C>T	gnomAD
BMPR1A	P36894	p.Arg494Gln	RCV000580696	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923601G>A	ClinVar
BMPR1A	P36894	p.Arg494Gln	RCV000635429	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923601G>A	ClinVar
BMPR1A	P36894	p.Arg494Ter	RCV000483189	nonsense	-	NC_000010.11:g.86923600C>T	ClinVar
BMPR1A	P36894	p.Arg494Gln	rs1204089728	missense variant	-	NC_000010.11:g.86923601G>A	gnomAD
BMPR1A	P36894	p.Ala495Val	rs876660569	missense variant	-	NC_000010.11:g.86923604C>T	-
BMPR1A	P36894	p.Ala495Val	RCV000219381	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923604C>T	ClinVar
BMPR1A	P36894	p.Val496Ile	rs753939029	missense variant	-	NC_000010.11:g.86923606G>A	ExAC,gnomAD
BMPR1A	P36894	p.Met500Val	RCV000561192	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000462223	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	rs376651641	missense variant	-	NC_000010.11:g.86923618A>G	ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Met500Val	RCV000664164	missense variant	Pulmonary arterial hypertension associated with congenital heart disease	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000345991	missense variant	Juvenile Polyposis	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Met500Val	RCV000486559	missense variant	-	NC_000010.11:g.86923618A>G	ClinVar
BMPR1A	P36894	p.Ser501Ala	RCV000685762	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923621T>G	ClinVar
BMPR1A	P36894	p.Ser501Ter	RCV000662601	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923622C>G	ClinVar
BMPR1A	P36894	p.Ser501Ter	rs1554891649	stop gained	-	NC_000010.11:g.86923622C>G	-
BMPR1A	P36894	p.Cys503Tyr	RCV000210184	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923628G>A	ClinVar
BMPR1A	P36894	p.Cys503Ser	rs1554891650	missense variant	-	NC_000010.11:g.86923627T>A	-
BMPR1A	P36894	p.Cys503Tyr	rs869312790	missense variant	-	NC_000010.11:g.86923628G>A	-
BMPR1A	P36894	p.Cys503Ser	RCV000635463	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923627T>A	ClinVar
BMPR1A	P36894	p.Trp504Ter	RCV000226766	nonsense	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923631G>A	ClinVar
BMPR1A	P36894	p.Trp504Ter	RCV000494677	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923631G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	RCV000579448	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923633G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	RCV000470753	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923633G>A	ClinVar
BMPR1A	P36894	p.Ala505Thr	rs369966011	missense variant	-	NC_000010.11:g.86923633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn507Ser	rs750840234	missense variant	-	NC_000010.11:g.86923640A>G	ExAC,TOPMed,gnomAD
BMPR1A	P36894	p.Asn507Ser	RCV000563202	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Asn507Ser	RCV000761117	missense variant	B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Asn507Ser	RCV000229682	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923640A>G	ClinVar
BMPR1A	P36894	p.Ala509Ser	RCV000704024	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923645G>T	ClinVar
BMPR1A	P36894	p.Arg511Ser	rs730881437	missense variant	-	NC_000010.11:g.86923653A>C	-
BMPR1A	P36894	p.Arg511Thr	rs1064793783	missense variant	-	NC_000010.11:g.86923652G>C	-
BMPR1A	P36894	p.Arg511Thr	RCV000481601	missense variant	-	NC_000010.11:g.86923652G>C	ClinVar
BMPR1A	P36894	p.Arg511Ser	RCV000159841	missense variant	-	NC_000010.11:g.86923653A>C	ClinVar
BMPR1A	P36894	p.Leu512Phe	rs1554891661	missense variant	-	NC_000010.11:g.86923654C>T	-
BMPR1A	P36894	p.Leu512Pro	RCV000777155	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923655T>C	ClinVar
BMPR1A	P36894	p.Leu512Phe	RCV000635487	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923654C>T	ClinVar
BMPR1A	P36894	p.Thr513Arg	rs1201398448	missense variant	-	NC_000010.11:g.86923658C>G	TOPMed
BMPR1A	P36894	p.Thr513Arg	RCV000570983	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923658C>G	ClinVar
BMPR1A	P36894	p.Ile517Val	RCV000635411	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923669A>G	ClinVar
BMPR1A	P36894	p.Ile517Ser	rs1554891667	missense variant	-	NC_000010.11:g.86923670T>G	-
BMPR1A	P36894	p.Ile517Ser	RCV000562011	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923670T>G	ClinVar
BMPR1A	P36894	p.Ile517Val	rs754607465	missense variant	-	NC_000010.11:g.86923669A>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile517Val	RCV000220935	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923669A>G	ClinVar
BMPR1A	P36894	p.Lys518Asn	rs1554891668	missense variant	-	NC_000010.11:g.86923674G>C	-
BMPR1A	P36894	p.Lys518Asn	RCV000538426	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923674G>C	ClinVar
BMPR1A	P36894	p.Thr520Met	rs1179044384	missense variant	-	NC_000010.11:g.86923679C>T	TOPMed,gnomAD
BMPR1A	P36894	p.Thr520Met	RCV000701922	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923679C>T	ClinVar
BMPR1A	P36894	p.Leu521Pro	rs1131691169	missense variant	-	NC_000010.11:g.86923682T>C	-
BMPR1A	P36894	p.Leu521Pro	RCV000494307	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923682T>C	ClinVar
BMPR1A	P36894	p.Leu521Ter	RCV000567697	frameshift	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923679_86923680insTT	ClinVar
BMPR1A	P36894	p.Lys523Arg	RCV000232462	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923688A>G	ClinVar
BMPR1A	P36894	p.Lys523Arg	rs878854665	missense variant	-	NC_000010.11:g.86923688A>G	gnomAD
BMPR1A	P36894	p.Met524Val	RCV000817674	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923690A>G	ClinVar
BMPR1A	P36894	p.Met524Val	RCV000773711	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923690A>G	ClinVar
BMPR1A	P36894	p.Met524Leu	rs747640982	missense variant	-	NC_000010.11:g.86923690A>C	ExAC,gnomAD
BMPR1A	P36894	p.Met524Ile	rs1064793404	missense variant	-	NC_000010.11:g.86923692G>T	TOPMed
BMPR1A	P36894	p.Met524Ile	RCV000479352	missense variant	-	NC_000010.11:g.86923692G>T	ClinVar
BMPR1A	P36894	p.Val525Ile	RCV000777247	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Val525Gly	rs1054284858	missense variant	-	NC_000010.11:g.86923694T>G	TOPMed
BMPR1A	P36894	p.Val525Ile	rs769233029	missense variant	-	NC_000010.11:g.86923693G>A	ExAC,gnomAD
BMPR1A	P36894	p.Val525Ile	RCV000236238	missense variant	-	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Val525Ile	RCV000471649	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923693G>A	ClinVar
BMPR1A	P36894	p.Gln528Ter	RCV000563445	nonsense	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923702C>T	ClinVar
BMPR1A	P36894	p.Gln528His	rs1554891680	missense variant	-	NC_000010.11:g.86923704A>C	-
BMPR1A	P36894	p.Gln528His	RCV000776891	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923704A>C	ClinVar
BMPR1A	P36894	p.Gln528Ter	rs1554891677	stop gained	-	NC_000010.11:g.86923702C>T	-
BMPR1A	P36894	p.Gln528His	RCV000531496	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923704A>C	ClinVar
BMPR1A	P36894	p.Asp529Glu	RCV000205016	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923707T>A	ClinVar
BMPR1A	P36894	p.Asp529Glu	rs864622175	missense variant	-	NC_000010.11:g.86923707T>A	TOPMed
BMPR1A	P36894	p.Asp529Val	rs1276173920	missense variant	-	NC_000010.11:g.86923706A>T	gnomAD
BMPR1A	P36894	p.Asp529Glu	RCV000572604	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923707T>A	ClinVar
BMPR1A	P36894	p.Ile532Met	rs201345248	missense variant	-	NC_000010.11:g.86923716C>G	ExAC,gnomAD
BMPR1A	P36894	p.Ile532Met	RCV000129250	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Ile532Met	RCV000034702	missense variant	-	NC_000010.11:g.86923716C>G	ClinVar
BMPR1A	P36894	p.Ile532Met	RCV000470094	missense variant	Juvenile polyposis syndrome (JPS)	NC_000010.11:g.86923716C>G	ClinVar
TGFBR2	P37173	p.Gly2Cys	rs565502802	missense variant	-	NC_000003.12:g.30606887G>T	1000Genomes,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Gly2Cys	RCV000234528	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30606887G>T	ClinVar
TGFBR2	P37173	p.Arg3Pro	rs780267559	missense variant	-	NC_000003.12:g.30606891G>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg3Gln	rs780267559	missense variant	-	NC_000003.12:g.30606891G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Gly8Asp	rs777080264	missense variant	-	NC_000003.12:g.30606906G>A	ExAC,gnomAD
TGFBR2	P37173	p.Leu9Ter	RCV000686255	frameshift	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30606898_30606908dup	ClinVar
TGFBR2	P37173	p.Leu9Arg	rs920370571	missense variant	-	NC_000003.12:g.30606909T>G	TOPMed
TGFBR2	P37173	p.Pro11Leu	rs1206093523	missense variant	-	NC_000003.12:g.30606915C>T	gnomAD
TGFBR2	P37173	p.Pro11Thr	rs1201208132	missense variant	-	NC_000003.12:g.30606914C>A	TOPMed
TGFBR2	P37173	p.His13Gln	rs1437593960	missense variant	-	NC_000003.12:g.30606922C>A	gnomAD
TGFBR2	P37173	p.His13Arg	rs769700663	missense variant	-	NC_000003.12:g.30606921A>G	ExAC,gnomAD
TGFBR2	P37173	p.Val15Phe	rs1182907194	missense variant	-	NC_000003.12:g.30606926G>T	TOPMed,gnomAD
TGFBR2	P37173	p.Val15Phe	RCV000774425	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30606926G>T	ClinVar
TGFBR2	P37173	p.Thr18Met	rs1234963515	missense variant	-	NC_000003.12:g.30606936C>T	gnomAD
TGFBR2	P37173	p.Arg19His	rs763085648	missense variant	-	NC_000003.12:g.30606939G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg19Leu	rs763085648	missense variant	-	NC_000003.12:g.30606939G>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ser22Cys	rs767407566	missense variant	-	NC_000003.12:g.30606947A>T	ExAC,gnomAD
TGFBR2	P37173	p.Ile24Thr	rs775405890	missense variant	-	NC_000003.12:g.30606954T>C	ExAC,gnomAD
TGFBR2	P37173	p.Pro25Ser	rs1410470306	missense variant	-	NC_000003.12:g.30606956C>T	gnomAD
TGFBR2	P37173	p.Pro26Ser	rs764160271	missense variant	-	NC_000003.12:g.30606959C>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Val28Phe	rs1225583022	missense variant	-	NC_000003.12:g.30606965G>T	TOPMed
TGFBR2	P37173	p.Lys30Arg	rs1269086905	missense variant	-	NC_000003.12:g.30606972A>G	gnomAD
TGFBR2	P37173	p.Ser31Ala	rs761400349	missense variant	-	NC_000003.12:g.30606974T>G	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Asp35Asn	rs984098699	missense variant	-	NC_000003.12:g.30644755G>A	TOPMed,gnomAD
TGFBR2	P37173	p.Asp35Asn	rs984098699	missense variant	-	NC_000003.12:g.30644755G>A	NCI-TCGA
TGFBR2	P37173	p.Met36Val	RCV000242516	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644758A>G	ClinVar
TGFBR2	P37173	p.Met36Val	RCV000828695	missense variant	-	NC_000003.12:g.30644758A>G	ClinVar
TGFBR2	P37173	p.Met36Leu	rs17025864	missense variant	-	NC_000003.12:g.30644758A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Met36Val	rs17025864	missense variant	-	NC_000003.12:g.30644758A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ile37Val	rs969666859	missense variant	-	NC_000003.12:g.30644761A>G	gnomAD
TGFBR2	P37173	p.Thr39Asn	rs146277116	missense variant	-	NC_000003.12:g.30644768C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Thr39Asn	RCV000780774	missense variant	-	NC_000003.12:g.30644768C>A	ClinVar
TGFBR2	P37173	p.Thr39Asn	RCV000227430	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644768C>A	ClinVar
TGFBR2	P37173	p.Thr39Ser	rs780280433	missense variant	-	NC_000003.12:g.30644767A>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Thr39Ser	RCV000726916	missense variant	-	NC_000003.12:g.30644767A>T	ClinVar
TGFBR2	P37173	p.Asp40Asn	rs397516837	missense variant	-	NC_000003.12:g.30644770G>A	-
TGFBR2	P37173	p.Asp40Asn	RCV000037730	missense variant	-	NC_000003.12:g.30644770G>A	ClinVar
TGFBR2	P37173	p.Asn42Ser	rs1305653433	missense variant	-	NC_000003.12:g.30644777A>G	gnomAD
TGFBR2	P37173	p.Gly43Ser	rs749239632	missense variant	-	NC_000003.12:g.30644779G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Gly43Ala	rs770482275	missense variant	-	NC_000003.12:g.30644780G>C	ExAC
TGFBR2	P37173	p.Gly43Cys	rs749239632	missense variant	-	NC_000003.12:g.30644779G>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala44Val	rs759231102	missense variant	-	NC_000003.12:g.30644783C>T	ExAC,gnomAD
TGFBR2	P37173	p.Lys46Ter	RCV000578622	nonsense	-	NC_000003.12:g.30644788A>T	ClinVar
TGFBR2	P37173	p.Lys46Ter	rs1553627148	stop gained	-	NC_000003.12:g.30644788A>T	-
TGFBR2	P37173	p.Cys51Arg	RCV000699100	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644803T>C	ClinVar
TGFBR2	P37173	p.Cys51Arg	rs1559456531	missense variant	-	NC_000003.12:g.30644803T>C	NCI-TCGA
TGFBR2	P37173	p.Lys52Thr	rs767191783	missense variant	-	NC_000003.12:g.30644807A>C	ExAC
TGFBR2	P37173	p.Asp55Asn	rs1192366381	missense variant	-	NC_000003.12:g.30644815G>A	gnomAD
TGFBR2	P37173	p.Asp55Val	rs549429104	missense variant	-	NC_000003.12:g.30644816A>T	1000Genomes,ExAC,gnomAD
TGFBR2	P37173	p.Val56Met	rs200924849	missense variant	-	NC_000003.12:g.30644818G>A	1000Genomes,ExAC,gnomAD
TGFBR2	P37173	p.Val56Leu	rs200924849	missense variant	-	NC_000003.12:g.30644818G>C	1000Genomes,ExAC,gnomAD
TGFBR2	P37173	p.Ser59Pro	RCV000688192	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644827T>C	ClinVar
TGFBR2	P37173	p.Thr60Ser	rs1170423783	missense variant	-	NC_000003.12:g.30644830A>T	gnomAD
TGFBR2	P37173	p.Cys61Arg	VAR_041414	Missense	-	-	UniProt
TGFBR2	P37173	p.Asn63Ser	rs1432089303	missense variant	-	NC_000003.12:g.30644840A>G	TOPMed,gnomAD
TGFBR2	P37173	p.Ser66Cys	rs1301512235	missense variant	-	NC_000003.12:g.30644849C>G	gnomAD
TGFBR2	P37173	p.Met68Leu	rs1060501985	missense variant	-	NC_000003.12:g.30644854A>C	TOPMed,gnomAD
TGFBR2	P37173	p.Met68Val	rs1060501985	missense variant	-	NC_000003.12:g.30644854A>G	TOPMed,gnomAD
TGFBR2	P37173	p.Met68Leu	RCV000459768	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644854A>C	ClinVar
TGFBR2	P37173	p.Asn70Lys	rs1405785027	missense variant	-	NC_000003.12:g.30644862C>A	gnomAD
TGFBR2	P37173	p.Asn70Lys	rs1405785027	missense variant	-	NC_000003.12:g.30644862C>G	gnomAD
TGFBR2	P37173	p.Cys71Tyr	COSM4733376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30644864G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Ser72Asn	RCV000472675	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30644867G>A	ClinVar
TGFBR2	P37173	p.Ser72Asn	rs764941621	missense variant	-	NC_000003.12:g.30644867G>A	TOPMed
TGFBR2	P37173	p.Ile73Val	VAR_036070	Missense	-	-	UniProt
TGFBR2	P37173	p.Thr74Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30644872A>G	NCI-TCGA
TGFBR2	P37173	p.Ile76Val	rs754370908	missense variant	-	NC_000003.12:g.30644878A>G	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ile76Leu	rs754370908	missense variant	-	NC_000003.12:g.30644878A>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Cys77Arg	COSM1043509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30644881T>C	NCI-TCGA Cosmic
TGFBR2	P37173	p.Cys77Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30644881T>A	NCI-TCGA
TGFBR2	P37173	p.Glu78Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30644884G>A	NCI-TCGA
TGFBR2	P37173	p.Glu78Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30644886G>T	NCI-TCGA
TGFBR2	P37173	p.Gln81His	rs765447350	missense variant	-	NC_000003.12:g.30644895G>T	ExAC,gnomAD
TGFBR2	P37173	p.Trp88Ter	rs1215812419	stop gained	-	NC_000003.12:g.30650270G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Trp88Ter	rs1215812419	stop gained	-	NC_000003.12:g.30650270G>A	gnomAD
TGFBR2	P37173	p.Asn91Thr	RCV000773917	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650278A>C	ClinVar
TGFBR2	P37173	p.Glu93Lys	rs766473954	missense variant	-	NC_000003.12:g.30650283G>A	ExAC,gnomAD
TGFBR2	P37173	p.Glu93Gly	rs1182342277	missense variant	-	NC_000003.12:g.30650284A>G	gnomAD
TGFBR2	P37173	p.Ile95Val	rs1242885838	missense variant	-	NC_000003.12:g.30650289A>G	gnomAD
TGFBR2	P37173	p.Thr96Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30650292A>G	NCI-TCGA
TGFBR2	P37173	p.Leu97Val	rs1223065891	missense variant	-	NC_000003.12:g.30650295C>G	TOPMed
TGFBR2	P37173	p.Glu98Gly	rs1473367944	missense variant	-	NC_000003.12:g.30650299A>G	gnomAD
TGFBR2	P37173	p.Thr99Ile	rs863223837	missense variant	-	NC_000003.12:g.30650302C>T	gnomAD
TGFBR2	P37173	p.Thr99Ile	RCV000199130	missense variant	-	NC_000003.12:g.30650302C>T	ClinVar
TGFBR2	P37173	p.Cys101Tyr	rs144137785	missense variant	-	NC_000003.12:g.30650308G>A	ESP,TOPMed
TGFBR2	P37173	p.His102Leu	rs777472799	missense variant	-	NC_000003.12:g.30650311A>T	ExAC,gnomAD
TGFBR2	P37173	p.Asp103Asn	COSM446339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30650313G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Pro104Ser	RCV000030550	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30650316C>T	ClinVar
TGFBR2	P37173	p.Pro104Thr	rs193922665	missense variant	-	NC_000003.12:g.30650316C>A	TOPMed,gnomAD
TGFBR2	P37173	p.Pro104Ser	rs193922665	missense variant	-	NC_000003.12:g.30650316C>T	TOPMed,gnomAD
TGFBR2	P37173	p.Lys105Met	COSM3408578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30650320A>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Lys105SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30650315C>-	NCI-TCGA
TGFBR2	P37173	p.Tyr108His	rs756999639	missense variant	-	NC_000003.12:g.30650328T>C	ExAC,gnomAD
TGFBR2	P37173	p.His109Leu	RCV000521998	missense variant	-	NC_000003.12:g.30650332A>T	ClinVar
TGFBR2	P37173	p.His109Leu	rs1553627759	missense variant	-	NC_000003.12:g.30650332A>T	-
TGFBR2	P37173	p.His109Asp	rs778838598	missense variant	-	NC_000003.12:g.30650331C>G	ExAC,gnomAD
TGFBR2	P37173	p.His109Asn	rs778838598	missense variant	-	NC_000003.12:g.30650331C>A	ExAC,gnomAD
TGFBR2	P37173	p.Ile112Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30650340A>G	NCI-TCGA
TGFBR2	P37173	p.Glu114Gln	rs771551560	missense variant	-	NC_000003.12:g.30650346G>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala116Asp	rs779603895	missense variant	-	NC_000003.12:g.30650353C>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala116Val	rs779603895	missense variant	-	NC_000003.12:g.30650353C>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ser118Pro	rs540920930	missense variant	-	NC_000003.12:g.30650358T>C	1000Genomes,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ser118Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30650359C>T	NCI-TCGA
TGFBR2	P37173	p.Pro119Ser	rs1347722182	missense variant	-	NC_000003.12:g.30650361C>T	TOPMed
TGFBR2	P37173	p.Met123Ile	rs1263124193	missense variant	-	NC_000003.12:g.30650375G>A	NCI-TCGA
TGFBR2	P37173	p.Met123Leu	RCV000253449	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650373A>T	ClinVar
TGFBR2	P37173	p.Met123Leu	rs768385200	missense variant	-	NC_000003.12:g.30650373A>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Met123Lys	rs1202323737	missense variant	-	NC_000003.12:g.30650374T>A	gnomAD
TGFBR2	P37173	p.Met123Ile	rs1263124193	missense variant	-	NC_000003.12:g.30650375G>A	gnomAD
TGFBR2	P37173	p.Lys124Met	rs776374040	missense variant	-	NC_000003.12:g.30650377A>T	ExAC,gnomAD
TGFBR2	P37173	p.Lys124Arg	rs776374040	missense variant	-	NC_000003.12:g.30650377A>G	ExAC,gnomAD
TGFBR2	P37173	p.Glu125Gly	rs762282124	missense variant	-	NC_000003.12:g.30650380A>G	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Glu125Lys	rs1389197358	missense variant	-	NC_000003.12:g.30650379G>A	TOPMed
TGFBR2	P37173	p.Lys126Thr	COSM1043513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30650383A>C	NCI-TCGA Cosmic
TGFBR2	P37173	p.Lys128Ter	RCV000617551	frameshift	-	NC_000003.12:g.30650389del	ClinVar
TGFBR2	P37173	p.Lys128Ter	RCV000559144	frameshift	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650389del	ClinVar
TGFBR2	P37173	p.Lys128Ter	RCV000680445	frameshift	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30650389del	ClinVar
TGFBR2	P37173	p.Lys128SerPheSerTerUnkUnk	rs752580104	frameshift	-	NC_000003.12:g.30650380A>-	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Pro129Ala	rs770216059	missense variant	-	NC_000003.12:g.30650391C>G	ExAC,gnomAD
TGFBR2	P37173	p.Gly130Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30650395G>T	NCI-TCGA
TGFBR2	P37173	p.Gly130Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30650394G>T	NCI-TCGA
TGFBR2	P37173	p.Thr132Ala	rs146497045	missense variant	-	NC_000003.12:g.30650400A>G	NCI-TCGA
TGFBR2	P37173	p.Thr132Ile	rs1402755105	missense variant	-	NC_000003.12:g.30650401C>T	gnomAD
TGFBR2	P37173	p.Thr132Ala	RCV000654796	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650400A>G	ClinVar
TGFBR2	P37173	p.Thr132Ala	rs146497045	missense variant	-	NC_000003.12:g.30650400A>G	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Met135Val	rs377455599	missense variant	-	NC_000003.12:g.30650409A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Cys138Tyr	RCV000768108	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30650419G>A	ClinVar
TGFBR2	P37173	p.Cys138Gly	rs863223838	missense variant	-	NC_000003.12:g.30650418T>G	TOPMed,gnomAD
TGFBR2	P37173	p.Cys138Gly	RCV000509415	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30650418T>G	ClinVar
TGFBR2	P37173	p.Glu142Lys	rs1199303428	missense variant	-	NC_000003.12:g.30650430G>A	TOPMed
TGFBR2	P37173	p.Asn144His	rs759498108	missense variant	-	NC_000003.12:g.30650436A>C	ExAC,gnomAD
TGFBR2	P37173	p.Asp145Glu	rs767805920	missense variant	-	NC_000003.12:g.30650441C>G	ExAC,gnomAD
TGFBR2	P37173	p.Asn146Ser	rs863223836	missense variant	-	NC_000003.12:g.30650443A>G	gnomAD
TGFBR2	P37173	p.Asn146Lys	rs1042058790	missense variant	-	NC_000003.12:g.30650444C>A	TOPMed,gnomAD
TGFBR2	P37173	p.Asn146Ser	RCV000196640	missense variant	-	NC_000003.12:g.30650443A>G	ClinVar
TGFBR2	P37173	p.Phe149Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30650453C>A	NCI-TCGA
TGFBR2	P37173	p.Ser150Pro	rs1346274891	missense variant	-	NC_000003.12:g.30650454T>C	TOPMed,gnomAD
TGFBR2	P37173	p.Ser150Pro	RCV000537553	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30650454T>C	ClinVar
TGFBR2	P37173	p.Ser150Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.30650455C>G	NCI-TCGA
TGFBR2	P37173	p.Glu151Val	rs757051948	missense variant	-	NC_000003.12:g.30650458A>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Glu152Ter	rs778675253	stop gained	-	NC_000003.12:g.30650460G>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Glu152Lys	rs778675253	missense variant	-	NC_000003.12:g.30650460G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Glu152Lys	RCV000200587	missense variant	-	NC_000003.12:g.30650460G>A	ClinVar
TGFBR2	P37173	p.Thr155Ile	RCV000777996	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671647C>T	ClinVar
TGFBR2	P37173	p.Thr155Ile	rs727504406	missense variant	-	NC_000003.12:g.30671647C>T	ExAC,gnomAD
TGFBR2	P37173	p.Asn157Ser	rs1014929115	missense variant	-	NC_000003.12:g.30671653A>G	TOPMed
TGFBR2	P37173	p.Asn157Tyr	rs1203996192	missense variant	-	NC_000003.12:g.30671652A>T	gnomAD
TGFBR2	P37173	p.Pro158Ser	RCV000405237	missense variant	Marfan syndrome (MFS)	NC_000003.12:g.30671655C>T	ClinVar
TGFBR2	P37173	p.Pro158Ser	rs886058303	missense variant	-	NC_000003.12:g.30671655C>T	-
TGFBR2	P37173	p.Pro158Ser	RCV000295388	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671655C>T	ClinVar
TGFBR2	P37173	p.Pro158Ser	RCV000335327	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30671655C>T	ClinVar
TGFBR2	P37173	p.Asp159Ala	rs891238058	missense variant	-	NC_000003.12:g.30671659A>C	TOPMed
TGFBR2	P37173	p.Leu160Ser	rs1252013911	missense variant	-	NC_000003.12:g.30671662T>C	gnomAD
TGFBR2	P37173	p.Leu162Pro	rs1385327750	missense variant	-	NC_000003.12:g.30671668T>C	gnomAD
TGFBR2	P37173	p.Gln166Arg	rs770804409	missense variant	-	NC_000003.12:g.30671680A>G	ExAC,gnomAD
TGFBR2	P37173	p.Gln166Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.30671679C>T	NCI-TCGA
TGFBR2	P37173	p.Val167Ala	RCV000476748	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671683T>C	ClinVar
TGFBR2	P37173	p.Val167Met	rs1266079634	missense variant	-	NC_000003.12:g.30671682G>A	gnomAD
TGFBR2	P37173	p.Val167Ala	rs779052721	missense variant	-	NC_000003.12:g.30671683T>C	ExAC,gnomAD
TGFBR2	P37173	p.Val167Gly	rs779052721	missense variant	-	NC_000003.12:g.30671683T>G	ExAC,gnomAD
TGFBR2	P37173	p.Thr168Ile	rs1177473314	missense variant	-	NC_000003.12:g.30671686C>T	gnomAD
TGFBR2	P37173	p.Gly169Arg	rs759362407	missense variant	-	NC_000003.12:g.30671688G>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ser171Gly	rs767581059	missense variant	-	NC_000003.12:g.30671694A>G	ExAC,gnomAD
TGFBR2	P37173	p.Ser171Gly	RCV000547310	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671694A>G	ClinVar
TGFBR2	P37173	p.Leu172Phe	rs1371331911	missense variant	-	NC_000003.12:g.30671697C>T	gnomAD
TGFBR2	P37173	p.Leu172Pro	rs752627750	missense variant	-	NC_000003.12:g.30671698T>C	ExAC,gnomAD
TGFBR2	P37173	p.Pro175Leu	rs1387250073	missense variant	-	NC_000003.12:g.30671707C>T	gnomAD
TGFBR2	P37173	p.Val178Asp	RCV000521506	missense variant	-	NC_000003.12:g.30671716T>A	ClinVar
TGFBR2	P37173	p.Val178Asp	rs1553630079	missense variant	-	NC_000003.12:g.30671716T>A	-
TGFBR2	P37173	p.Ser181Tyr	rs763513004	missense variant	-	NC_000003.12:g.30671725C>A	ExAC,gnomAD
TGFBR2	P37173	p.Val182Ile	rs376358046	missense variant	-	NC_000003.12:g.30671727G>A	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ile184Asn	rs863223839	missense variant	-	NC_000003.12:g.30671734T>A	-
TGFBR2	P37173	p.Ile184Phe	rs1371905176	missense variant	-	NC_000003.12:g.30671733A>T	TOPMed,gnomAD
TGFBR2	P37173	p.Ile184Leu	rs1371905176	missense variant	-	NC_000003.12:g.30671733A>C	TOPMed,gnomAD
TGFBR2	P37173	p.Ile184Asn	rs863223839	missense variant	-	NC_000003.12:g.30671734T>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Ile184Asn	RCV000196769	missense variant	-	NC_000003.12:g.30671734T>A	ClinVar
TGFBR2	P37173	p.Phe186Ile	RCV000466091	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671739T>A	ClinVar
TGFBR2	P37173	p.Phe186Ile	rs368346624	missense variant	-	NC_000003.12:g.30671739T>A	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Phe186Ile	RCV000481213	missense variant	-	NC_000003.12:g.30671739T>A	ClinVar
TGFBR2	P37173	p.Cys188Arg	rs973407277	missense variant	-	NC_000003.12:g.30671745T>C	TOPMed
TGFBR2	P37173	p.Cys188Gly	rs973407277	missense variant	-	NC_000003.12:g.30671745T>G	TOPMed
TGFBR2	P37173	p.Arg190His	RCV000455175	missense variant	-	NC_000003.12:g.30671752G>A	ClinVar
TGFBR2	P37173	p.Arg190Cys	rs758703490	missense variant	-	NC_000003.12:g.30671751C>T	NCI-TCGA
TGFBR2	P37173	p.Arg190His	rs780542125	missense variant	-	NC_000003.12:g.30671752G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg190Cys	rs758703490	missense variant	-	NC_000003.12:g.30671751C>T	ExAC,gnomAD
TGFBR2	P37173	p.Arg190His	RCV000765720	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30671752G>A	ClinVar
TGFBR2	P37173	p.Val191Ile	RCV000228364	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671754G>A	ClinVar
TGFBR2	P37173	p.Val191Ile	rs56105708	missense variant	-	NC_000003.12:g.30671754G>A	UniProt,dbSNP
TGFBR2	P37173	p.Val191Ile	VAR_017606	missense variant	-	NC_000003.12:g.30671754G>A	UniProt
TGFBR2	P37173	p.Val191Ile	rs56105708	missense variant	-	NC_000003.12:g.30671754G>A	1000Genomes,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Asn192Lys	rs1270027856	missense variant	-	NC_000003.12:g.30671759C>A	gnomAD
TGFBR2	P37173	p.Arg193Trp	rs61762550	missense variant	-	NC_000003.12:g.30671760C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg193Gln	rs748437880	missense variant	-	NC_000003.12:g.30671761G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Gln195Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.30671766C>T	NCI-TCGA
TGFBR2	P37173	p.Ser199Leu	rs1431838247	missense variant	-	NC_000003.12:g.30671779C>T	gnomAD
TGFBR2	P37173	p.Thr200Ala	COSM3823640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671781A>G	NCI-TCGA Cosmic
TGFBR2	P37173	p.Trp201Arg	rs1162997625	missense variant	-	NC_000003.12:g.30671784T>A	gnomAD
TGFBR2	P37173	p.Gly204Ser	rs773431795	missense variant	-	NC_000003.12:g.30671793G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Thr206Met	rs150022335	missense variant	-	NC_000003.12:g.30671800C>T	1000Genomes,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Thr206Met	RCV000037738	missense variant	-	NC_000003.12:g.30671800C>T	ClinVar
TGFBR2	P37173	p.Thr206Ala	rs1295365314	missense variant	-	NC_000003.12:g.30671799A>G	gnomAD
TGFBR2	P37173	p.Arg207Trp	rs775640617	missense variant	-	NC_000003.12:g.30671802C>T	NCI-TCGA
TGFBR2	P37173	p.Arg207Trp	rs775640617	missense variant	-	NC_000003.12:g.30671802C>T	ExAC,gnomAD
TGFBR2	P37173	p.Arg207Gln	rs371209879	missense variant	-	NC_000003.12:g.30671803G>A	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg207Gln	rs371209879	missense variant	-	NC_000003.12:g.30671803G>A	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg207Gln	RCV000772797	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671803G>A	ClinVar
TGFBR2	P37173	p.Leu209Val	rs1288771489	missense variant	-	NC_000003.12:g.30671808C>G	TOPMed,gnomAD
TGFBR2	P37173	p.Leu209Phe	rs1288771489	missense variant	-	NC_000003.12:g.30671808C>T	TOPMed,gnomAD
TGFBR2	P37173	p.Met210Val	rs763709160	missense variant	-	NC_000003.12:g.30671811A>G	ExAC,gnomAD
TGFBR2	P37173	p.Ser213Asn	rs1427971419	missense variant	-	NC_000003.12:g.30671821G>A	TOPMed
TGFBR2	P37173	p.Glu214Lys	rs764821003	missense variant	-	NC_000003.12:g.30671823G>A	NCI-TCGA
TGFBR2	P37173	p.Glu214Lys	rs764821003	missense variant	-	NC_000003.12:g.30671823G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.His215Gln	rs758827786	missense variant	-	NC_000003.12:g.30671828C>G	ExAC,gnomAD
TGFBR2	P37173	p.His215Gln	RCV000654786	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671828C>G	ClinVar
TGFBR2	P37173	p.His215Asn	rs1249003122	missense variant	-	NC_000003.12:g.30671826C>A	gnomAD
TGFBR2	P37173	p.His215Arg	rs1252128858	missense variant	-	NC_000003.12:g.30671827A>G	TOPMed
TGFBR2	P37173	p.Ala217Pro	RCV000242279	missense variant	-	NC_000003.12:g.30671832G>C	ClinVar
TGFBR2	P37173	p.Ala217Pro	rs149141477	missense variant	-	NC_000003.12:g.30671832G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala217Pro	RCV000660320	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671832G>C	ClinVar
TGFBR2	P37173	p.Ile218Val	rs752110046	missense variant	-	NC_000003.12:g.30671835A>G	ExAC,gnomAD
TGFBR2	P37173	p.Leu220Pro	RCV000536041	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671842T>C	ClinVar
TGFBR2	P37173	p.Leu220Pro	rs1553630112	missense variant	-	NC_000003.12:g.30671842T>C	-
TGFBR2	P37173	p.Asp222Gly	COSM3373143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671848A>G	NCI-TCGA Cosmic
TGFBR2	P37173	p.Asp223Asn	rs781692282	missense variant	-	NC_000003.12:g.30671850G>A	ExAC,gnomAD
TGFBR2	P37173	p.Arg224His	rs112465572	missense variant	-	NC_000003.12:g.30671854G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg224Cys	rs748195637	missense variant	-	NC_000003.12:g.30671853C>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg224His	RCV000773801	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671854G>A	ClinVar
TGFBR2	P37173	p.Ile227Val	rs202056618	missense variant	-	NC_000003.12:g.30671862A>G	1000Genomes
TGFBR2	P37173	p.Ile227Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30671864C>G	NCI-TCGA
TGFBR2	P37173	p.Ser228Ile	RCV000770346	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671866G>T	ClinVar
TGFBR2	P37173	p.Ser229Thr	rs772053650	missense variant	-	NC_000003.12:g.30671868T>A	ExAC,gnomAD
TGFBR2	P37173	p.Thr230Met	rs150116445	missense variant	-	NC_000003.12:g.30671872C>T	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Asn234Ile	RCV000195779	missense variant	-	NC_000003.12:g.30671884A>T	ClinVar
TGFBR2	P37173	p.Asn234Ile	rs863223840	missense variant	-	NC_000003.12:g.30671884A>T	-
TGFBR2	P37173	p.Thr239Ala	COSM4116798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671898A>G	NCI-TCGA Cosmic
TGFBR2	P37173	p.Ile244Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30671913A>T	NCI-TCGA
TGFBR2	P37173	p.Asp247Val	rs761231369	missense variant	-	NC_000003.12:g.30671923A>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Thr248Ile	COSM4509824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671926C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Thr248Ala	rs1208408166	missense variant	-	NC_000003.12:g.30671925A>G	gnomAD
TGFBR2	P37173	p.Val250Leu	rs1173580610	missense variant	-	NC_000003.12:g.30671931G>T	TOPMed
TGFBR2	P37173	p.Gly251Arg	COSM4414155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671934G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Lys252Arg	rs1472336039	missense variant	-	NC_000003.12:g.30671938A>G	gnomAD
TGFBR2	P37173	p.Lys252Asn	rs1160016010	missense variant	-	NC_000003.12:g.30671939A>C	gnomAD
TGFBR2	P37173	p.Gly253Ser	RCV000762369	missense variant	-	NC_000003.12:g.30671940G>A	ClinVar
TGFBR2	P37173	p.Arg254Cys	RCV000198902	missense variant	-	NC_000003.12:g.30671943C>T	ClinVar
TGFBR2	P37173	p.Arg254Cys	RCV000525396	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30671943C>T	ClinVar
TGFBR2	P37173	p.Arg254His	rs751948498	missense variant	-	NC_000003.12:g.30671944G>A	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg254His	rs751948498	missense variant	-	NC_000003.12:g.30671944G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg254Cys	rs863223856	missense variant	-	NC_000003.12:g.30671943C>T	-
TGFBR2	P37173	p.Glu257Asp	COSM6164531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30671954G>C	NCI-TCGA Cosmic
TGFBR2	P37173	p.Val258Leu	rs184297150	missense variant	-	NC_000003.12:g.30671955G>C	1000Genomes
TGFBR2	P37173	p.Val258Asp	rs869025536	missense variant	-	NC_000003.12:g.30671956T>A	-
TGFBR2	P37173	p.Val258Asp	RCV000208008	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30671956T>A	ClinVar
TGFBR2	P37173	p.Tyr259His	rs755317450	missense variant	-	NC_000003.12:g.30671958T>C	ExAC,gnomAD
TGFBR2	P37173	p.Tyr259Cys	rs767919854	missense variant	-	NC_000003.12:g.30671959A>G	ExAC,gnomAD
TGFBR2	P37173	p.Lys262GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30671964_30671965insC	NCI-TCGA
TGFBR2	P37173	p.Gln265Ter	COSM3696026	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.30671976C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Gln265His	rs1412125264	missense variant	-	NC_000003.12:g.30671978G>T	TOPMed
TGFBR2	P37173	p.Asn266Ser	rs753184709	missense variant	-	NC_000003.12:g.30671980A>G	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Thr267IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30671983C>-	NCI-TCGA
TGFBR2	P37173	p.Ser268Leu	rs139078984	missense variant	-	NC_000003.12:g.30671986C>T	ESP,ExAC,gnomAD
TGFBR2	P37173	p.Glu269Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30671988G>A	NCI-TCGA
TGFBR2	P37173	p.Thr273Ile	rs1415684178	missense variant	-	NC_000003.12:g.30672001C>T	TOPMed
TGFBR2	P37173	p.Val274Ala	rs1228411775	missense variant	-	NC_000003.12:g.30672004T>C	gnomAD
TGFBR2	P37173	p.Ala275Ser	rs757521476	missense variant	-	NC_000003.12:g.30672006G>T	ExAC,gnomAD
TGFBR2	P37173	p.Val276Gly	rs200679764	missense variant	-	NC_000003.12:g.30672010T>G	gnomAD
TGFBR2	P37173	p.Lys277Asn	rs886038794	missense variant	-	NC_000003.12:g.30672014G>T	-
TGFBR2	P37173	p.Lys277Glu	COSM730358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672012A>G	NCI-TCGA Cosmic
TGFBR2	P37173	p.Lys277Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672013A>T	NCI-TCGA
TGFBR2	P37173	p.Lys277Asn	RCV000244146	missense variant	-	NC_000003.12:g.30672014G>T	ClinVar
TGFBR2	P37173	p.Lys277Asn	rs886038794	missense variant	-	NC_000003.12:g.30672014G>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Ile278Phe	RCV000698826	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672015A>T	ClinVar
TGFBR2	P37173	p.Phe279Leu	rs746824357	missense variant	-	NC_000003.12:g.30672018T>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Phe279Ser	rs1318654289	missense variant	-	NC_000003.12:g.30672019T>C	TOPMed,gnomAD
TGFBR2	P37173	p.Tyr281Cys	rs1210616464	missense variant	-	NC_000003.12:g.30672025A>G	TOPMed
TGFBR2	P37173	p.Tyr281MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30672017C>-	NCI-TCGA
TGFBR2	P37173	p.Tyr281Cys	rs1210616464	missense variant	-	NC_000003.12:g.30672025A>G	NCI-TCGA
TGFBR2	P37173	p.Glu283Asp	rs1249816685	missense variant	-	NC_000003.12:g.30672032G>C	gnomAD
TGFBR2	P37173	p.Tyr284Cys	rs374708133	missense variant	-	NC_000003.12:g.30672034A>G	ESP,ExAC,gnomAD
TGFBR2	P37173	p.Ala285Thr	rs776497237	missense variant	-	NC_000003.12:g.30672036G>A	ExAC,gnomAD
TGFBR2	P37173	p.Trp287Arg	rs727503472	missense variant	-	NC_000003.12:g.30672042T>C	-
TGFBR2	P37173	p.Trp287Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672044G>C	NCI-TCGA
TGFBR2	P37173	p.Trp287Arg	RCV000152004	missense variant	-	NC_000003.12:g.30672042T>C	ClinVar
TGFBR2	P37173	p.Glu290Lys	COSM1309022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672051G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Asp292Asn	rs1254102909	missense variant	-	NC_000003.12:g.30672057G>A	gnomAD
TGFBR2	P37173	p.Ile293Thr	rs1260260285	missense variant	-	NC_000003.12:g.30672061T>C	TOPMed
TGFBR2	P37173	p.Ile293Val	rs748102367	missense variant	-	NC_000003.12:g.30672060A>G	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ser295Ter	COSM730357	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.30672067C>G	NCI-TCGA Cosmic
TGFBR2	P37173	p.Ser295Leu	rs1365040421	missense variant	-	NC_000003.12:g.30672067C>T	gnomAD
TGFBR2	P37173	p.Asp296Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672069G>T	NCI-TCGA
TGFBR2	P37173	p.Ile297Val	rs772678321	missense variant	-	NC_000003.12:g.30672072A>G	ExAC,gnomAD
TGFBR2	P37173	p.Asn298Ile	rs751587466	missense variant	-	NC_000003.12:g.30672076A>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Asn298Ser	rs751587466	missense variant	-	NC_000003.12:g.30672076A>G	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.His301Arg	RCV000251947	missense variant	-	NC_000003.12:g.30672085A>G	ClinVar
TGFBR2	P37173	p.His301Arg	rs863223857	missense variant	-	NC_000003.12:g.30672085A>G	-
TGFBR2	P37173	p.His301Arg	RCV000200455	missense variant	-	NC_000003.12:g.30672085A>G	ClinVar
TGFBR2	P37173	p.Glu302Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672089G>T	NCI-TCGA
TGFBR2	P37173	p.Glu302Val	rs766038199	missense variant	-	NC_000003.12:g.30672088A>T	ExAC,gnomAD
TGFBR2	P37173	p.Asn303His	rs773932892	missense variant	-	NC_000003.12:g.30672090A>C	ExAC,gnomAD
TGFBR2	P37173	p.Ile304Val	rs1383281802	missense variant	-	NC_000003.12:g.30672093A>G	gnomAD
TGFBR2	P37173	p.Ile304Thr	rs1328891008	missense variant	-	NC_000003.12:g.30672094T>C	gnomAD
TGFBR2	P37173	p.Leu305Phe	RCV000765721	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672096C>T	ClinVar
TGFBR2	P37173	p.Leu305Arg	RCV000540262	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672097T>G	ClinVar
TGFBR2	P37173	p.Leu305Phe	RCV000519818	missense variant	-	NC_000003.12:g.30672096C>T	ClinVar
TGFBR2	P37173	p.Leu305Phe	rs1553630171	missense variant	-	NC_000003.12:g.30672096C>T	-
TGFBR2	P37173	p.Leu305Arg	rs1553630174	missense variant	-	NC_000003.12:g.30672097T>G	-
TGFBR2	P37173	p.Gln306Ter	COSM730356	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.30672099C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Gln306His	rs1274833112	missense variant	-	NC_000003.12:g.30672101G>C	gnomAD
TGFBR2	P37173	p.Gln306insHisGlu	VAR_066723	deletion_insertion	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
TGFBR2	P37173	p.Leu308Pro	RCV000013329	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672106T>C	ClinVar
TGFBR2	P37173	p.Leu308Pro	rs28934568	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672106T>C	UniProt,dbSNP
TGFBR2	P37173	p.Leu308Pro	VAR_022351	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672106T>C	UniProt
TGFBR2	P37173	p.Leu308Pro	rs28934568	missense variant	-	NC_000003.12:g.30672106T>C	-
TGFBR2	P37173	p.Thr309Met	rs202168735	missense variant	-	NC_000003.12:g.30672109C>T	ESP,ExAC,gnomAD
TGFBR2	P37173	p.Ala310Thr	RCV000660321	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672111G>A	ClinVar
TGFBR2	P37173	p.Ala310Thr	rs1553630181	missense variant	-	NC_000003.12:g.30672111G>A	-
TGFBR2	P37173	p.Glu311Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672115A>C	NCI-TCGA
TGFBR2	P37173	p.Glu312Lys	rs397516841	missense variant	-	NC_000003.12:g.30672117G>A	-
TGFBR2	P37173	p.Glu312Lys	RCV000037739	missense variant	-	NC_000003.12:g.30672117G>A	ClinVar
TGFBR2	P37173	p.Arg313Leu	rs200361387	missense variant	-	NC_000003.12:g.30672121G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg313Pro	rs200361387	missense variant	-	NC_000003.12:g.30672121G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg313Gln	rs200361387	missense variant	-	NC_000003.12:g.30672121G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg313Trp	rs55751315	missense variant	-	NC_000003.12:g.30672120C>T	TOPMed,gnomAD
TGFBR2	P37173	p.Thr315Met	RCV000626289	missense variant	Familial colorectal cancer (CRC)	NC_000003.12:g.30672127C>T	ClinVar
TGFBR2	P37173	p.Thr315Met	rs34833812	missense variant	Hereditary non-polyposis colorectal cancer 6 (HNPCC6)	NC_000003.12:g.30672127C>T	UniProt,dbSNP
TGFBR2	P37173	p.Thr315Met	VAR_008156	missense variant	Hereditary non-polyposis colorectal cancer 6 (HNPCC6)	NC_000003.12:g.30672127C>T	UniProt
TGFBR2	P37173	p.Thr315Met	rs34833812	missense variant	-	NC_000003.12:g.30672127C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Glu316GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30672127_30672128insG	NCI-TCGA
TGFBR2	P37173	p.Leu317Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672134G>T	NCI-TCGA
TGFBR2	P37173	p.Gly318Ala	rs754785934	missense variant	-	NC_000003.12:g.30672136G>C	ExAC,TOPMed
TGFBR2	P37173	p.Tyr321Cys	RCV000660322	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672145A>G	ClinVar
TGFBR2	P37173	p.Tyr321Cys	rs1553630191	missense variant	-	NC_000003.12:g.30672145A>G	-
TGFBR2	P37173	p.Trp322Gly	rs863223858	missense variant	-	NC_000003.12:g.30672147T>G	-
TGFBR2	P37173	p.Trp322Cys	rs1335113103	missense variant	-	NC_000003.12:g.30672149G>C	gnomAD
TGFBR2	P37173	p.Trp322Ter	rs1335113103	stop gained	-	NC_000003.12:g.30672149G>A	gnomAD
TGFBR2	P37173	p.Trp322Gly	RCV000197001	missense variant	-	NC_000003.12:g.30672147T>G	ClinVar
TGFBR2	P37173	p.Leu323Val	RCV000238729	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672150C>G	ClinVar
TGFBR2	P37173	p.Leu323Pro	COSM185096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672151T>C	NCI-TCGA Cosmic
TGFBR2	P37173	p.Leu323Val	rs781018006	missense variant	-	NC_000003.12:g.30672150C>G	ExAC,gnomAD
TGFBR2	P37173	p.Thr325Pro	VAR_076169	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
TGFBR2	P37173	p.Ala326Thr	rs769750420	missense variant	-	NC_000003.12:g.30672159G>A	ExAC,gnomAD
TGFBR2	P37173	p.Ala326Thr	rs769750420	missense variant	-	NC_000003.12:g.30672159G>A	NCI-TCGA
TGFBR2	P37173	p.Phe327Leu	rs1429960106	missense variant	-	NC_000003.12:g.30672164C>G	gnomAD
TGFBR2	P37173	p.His328Tyr	COSM12936	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672165C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.His328Gln	rs193922666	missense variant	-	NC_000003.12:g.30672167C>A	1000Genomes,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.His328Tyr	VAR_041415	Missense	-	-	UniProt
TGFBR2	P37173	p.Ala329Thr	rs148665451	missense variant	-	NC_000003.12:g.30672168G>A	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala329Thr	RCV000148892	missense variant	Loeys-Dietz syndrome 1 (LDS1)	NC_000003.12:g.30672168G>A	ClinVar
TGFBR2	P37173	p.Ala329Val	rs376752333	missense variant	-	NC_000003.12:g.30672169C>T	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala329Thr	RCV000198010	missense variant	-	NC_000003.12:g.30672168G>A	ClinVar
TGFBR2	P37173	p.Gly331Asp	rs1332138742	missense variant	-	NC_000003.12:g.30672175G>A	gnomAD
TGFBR2	P37173	p.Gly331Ser	rs759215875	missense variant	-	NC_000003.12:g.30672174G>A	ExAC,gnomAD
TGFBR2	P37173	p.Leu333Gln	rs863223841	missense variant	-	NC_000003.12:g.30672181T>A	-
TGFBR2	P37173	p.Leu333Gln	RCV000199560	missense variant	-	NC_000003.12:g.30672181T>A	ClinVar
TGFBR2	P37173	p.Gln334Leu	rs775897166	missense variant	-	NC_000003.12:g.30672184A>T	ExAC,gnomAD
TGFBR2	P37173	p.Gln334Arg	rs775897166	missense variant	-	NC_000003.12:g.30672184A>G	ExAC,gnomAD
TGFBR2	P37173	p.Tyr336Asp	RCV000546745	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672189T>G	ClinVar
TGFBR2	P37173	p.Tyr336Asp	rs104893812	missense variant	-	NC_000003.12:g.30672189T>G	-
TGFBR2	P37173	p.Tyr336Asn	rs104893812	missense variant	-	NC_000003.12:g.30672189T>A	-
TGFBR2	P37173	p.Tyr336Asn	rs104893812	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672189T>A	UniProt,dbSNP
TGFBR2	P37173	p.Tyr336Asn	VAR_022352	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672189T>A	UniProt
TGFBR2	P37173	p.Tyr336Asn	RCV000013332	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672189T>A	ClinVar
TGFBR2	P37173	p.Thr338Met	rs752866783	missense variant	-	NC_000003.12:g.30672196C>T	TOPMed,gnomAD
TGFBR2	P37173	p.Thr338Lys	rs752866783	missense variant	-	NC_000003.12:g.30672196C>A	TOPMed,gnomAD
TGFBR2	P37173	p.Arg339Trp	rs761991787	missense variant	-	NC_000003.12:g.30672198C>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg339Pro	rs727503473	missense variant	-	NC_000003.12:g.30672199G>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg339Leu	RCV000198865	missense variant	-	NC_000003.12:g.30672199G>T	ClinVar
TGFBR2	P37173	p.Arg339Pro	RCV000152005	missense variant	-	NC_000003.12:g.30672199G>C	ClinVar
TGFBR2	P37173	p.Arg339Pro	RCV000808510	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672199G>C	ClinVar
TGFBR2	P37173	p.Arg339Gln	rs727503473	missense variant	-	NC_000003.12:g.30672199G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg339Leu	rs727503473	missense variant	-	NC_000003.12:g.30672199G>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg339Trp	RCV000781901	missense variant	-	NC_000003.12:g.30672198C>T	ClinVar
TGFBR2	P37173	p.Ile342Phe	rs750658746	missense variant	-	NC_000003.12:g.30672207A>T	ExAC,gnomAD
TGFBR2	P37173	p.Ser343Gly	rs758614833	missense variant	-	NC_000003.12:g.30672210A>G	ExAC,gnomAD
TGFBR2	P37173	p.Arg348Cys	rs144701411	missense variant	-	NC_000003.12:g.30672225C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg348Cys	RCV000263258	missense variant	Marfan syndrome (MFS)	NC_000003.12:g.30672225C>T	ClinVar
TGFBR2	P37173	p.Arg348His	rs369450067	missense variant	-	NC_000003.12:g.30672226G>A	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg348His	RCV000809072	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672226G>A	ClinVar
TGFBR2	P37173	p.Arg348Cys	RCV000315631	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672225C>T	ClinVar
TGFBR2	P37173	p.Arg348Cys	RCV000354050	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672225C>T	ClinVar
TGFBR2	P37173	p.Arg348His	RCV000498047	missense variant	-	NC_000003.12:g.30672226G>A	ClinVar
TGFBR2	P37173	p.Arg348His	rs369450067	missense variant	-	NC_000003.12:g.30672226G>A	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Gly351Arg	RCV000624764	missense variant	Inborn genetic diseases	NC_000003.12:g.30672234G>C	ClinVar
TGFBR2	P37173	p.Gly351Asp	rs869025537	missense variant	-	NC_000003.12:g.30672235G>A	-
TGFBR2	P37173	p.Gly351Arg	rs1553630221	missense variant	-	NC_000003.12:g.30672234G>C	-
TGFBR2	P37173	p.Gly351Asp	RCV000208228	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672235G>A	ClinVar
TGFBR2	P37173	p.Ser353Phe	RCV000557035	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672241C>T	ClinVar
TGFBR2	P37173	p.Ser353Phe	rs1553630235	missense variant	-	NC_000003.12:g.30672241C>T	-
TGFBR2	P37173	p.Leu354Ile	rs777689025	missense variant	-	NC_000003.12:g.30672243C>A	ExAC
TGFBR2	P37173	p.Ala355Thr	RCV000426608	missense variant	-	NC_000003.12:g.30672246G>A	ClinVar
TGFBR2	P37173	p.Ala355Thr	rs104893813	missense variant	-	NC_000003.12:g.30672246G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala355Ser	rs104893813	missense variant	-	NC_000003.12:g.30672246G>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala355Pro	rs104893813	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672246G>C	UniProt,dbSNP
TGFBR2	P37173	p.Ala355Pro	VAR_022353	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672246G>C	UniProt
TGFBR2	P37173	p.Ala355Val	rs778467588	missense variant	-	NC_000003.12:g.30672247C>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala355Pro	rs104893813	missense variant	-	NC_000003.12:g.30672246G>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ala355Pro	RCV000013333	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672246G>C	ClinVar
TGFBR2	P37173	p.Arg356Pro	RCV000154307	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672250G>C	ClinVar
TGFBR2	P37173	p.Arg356Gln	rs727504292	missense variant	-	NC_000003.12:g.30672250G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg356Trp	rs199660234	missense variant	-	NC_000003.12:g.30672249C>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg356Pro	RCV000624184	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672250G>C	ClinVar
TGFBR2	P37173	p.Arg356Pro	RCV000805236	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672250G>C	ClinVar
TGFBR2	P37173	p.Arg356Trp	rs199660234	missense variant	-	NC_000003.12:g.30672249C>T	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg356Gly	rs199660234	missense variant	-	NC_000003.12:g.30672249C>G	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg356Gln	rs727504292	missense variant	-	NC_000003.12:g.30672250G>A	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg356Pro	rs727504292	missense variant	-	NC_000003.12:g.30672250G>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg356Trp	RCV000489285	missense variant	-	NC_000003.12:g.30672249C>T	ClinVar
TGFBR2	P37173	p.Arg356Gly	RCV000197867	missense variant	-	NC_000003.12:g.30672249C>G	ClinVar
TGFBR2	P37173	p.Gly357Trp	rs104893814	missense variant	-	NC_000003.12:g.30672252G>T	-
TGFBR2	P37173	p.Gly357Trp	rs104893814	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672252G>T	UniProt,dbSNP
TGFBR2	P37173	p.Gly357Trp	VAR_022354	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672252G>T	UniProt
TGFBR2	P37173	p.Gly357Ala	rs370995723	missense variant	-	NC_000003.12:g.30672253G>C	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Gly357Trp	RCV000013334	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672252G>T	ClinVar
TGFBR2	P37173	p.Gly357Arg	VAR_076170	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
TGFBR2	P37173	p.His360Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672262A>C	NCI-TCGA
TGFBR2	P37173	p.His360Asp	rs189119533	missense variant	-	NC_000003.12:g.30672261C>G	1000Genomes,ExAC,gnomAD
TGFBR2	P37173	p.Leu361Phe	COSM4116803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672264C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Leu361ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30672263_30672266CCTC>-	NCI-TCGA
TGFBR2	P37173	p.His362Arg	RCV000200101	missense variant	-	NC_000003.12:g.30672268A>G	ClinVar
TGFBR2	P37173	p.His362Arg	rs863223842	missense variant	-	NC_000003.12:g.30672268A>G	-
TGFBR2	P37173	p.Asp364Glu	rs149195553	missense variant	-	NC_000003.12:g.30672275T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Asp364His	rs1244365502	missense variant	-	NC_000003.12:g.30672273G>C	gnomAD
TGFBR2	P37173	p.Thr366Ala	rs777332888	missense variant	-	NC_000003.12:g.30672279A>G	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Pro367Leu	rs1226482581	missense variant	-	NC_000003.12:g.30672283C>T	gnomAD
TGFBR2	P37173	p.Gly369Arg	rs765447250	missense variant	-	NC_000003.12:g.30672288G>C	ExAC,gnomAD
TGFBR2	P37173	p.Gly369Trp	rs765447250	missense variant	-	NC_000003.12:g.30672288G>T	ExAC,gnomAD
TGFBR2	P37173	p.Arg370Met	rs550421922	missense variant	-	NC_000003.12:g.30672292G>T	1000Genomes,ExAC,gnomAD
TGFBR2	P37173	p.Arg370Lys	rs550421922	missense variant	-	NC_000003.12:g.30672292G>A	1000Genomes,ExAC,gnomAD
TGFBR2	P37173	p.Met373Ile	RCV000680612	missense variant	Connective tissue disorder	NC_000003.12:g.30672302G>A	ClinVar
TGFBR2	P37173	p.Met373Ile	rs35719192	missense variant	-	NC_000003.12:g.30672302G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Met373Ile	RCV000327596	missense variant	Marfan syndrome (MFS)	NC_000003.12:g.30672302G>A	ClinVar
TGFBR2	P37173	p.Met373Ile	RCV000251845	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672302G>A	ClinVar
TGFBR2	P37173	p.Met373Ile	RCV000617150	missense variant	-	NC_000003.12:g.30672302G>A	ClinVar
TGFBR2	P37173	p.Pro374Leu	RCV000424003	missense variant	-	NC_000003.12:g.30672304C>T	ClinVar
TGFBR2	P37173	p.Pro374Ser	RCV000196206	missense variant	-	NC_000003.12:g.30672303C>T	ClinVar
TGFBR2	P37173	p.Pro374Ser	rs863223843	missense variant	-	NC_000003.12:g.30672303C>T	-
TGFBR2	P37173	p.Pro374Leu	rs1057524399	missense variant	-	NC_000003.12:g.30672304C>T	-
TGFBR2	P37173	p.Ile375Val	rs927452109	missense variant	-	NC_000003.12:g.30672306A>G	TOPMed,gnomAD
TGFBR2	P37173	p.Val376Met	RCV000457732	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672309G>A	ClinVar
TGFBR2	P37173	p.Val376Met	rs755967723	missense variant	-	NC_000003.12:g.30672309G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Val376Met	RCV000765724	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672309G>A	ClinVar
TGFBR2	P37173	p.His377Arg	RCV000654794	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672313A>G	ClinVar
TGFBR2	P37173	p.His377Arg	rs1553630274	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672313A>G	UniProt,dbSNP
TGFBR2	P37173	p.His377Arg	VAR_066724	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672313A>G	UniProt
TGFBR2	P37173	p.His377Arg	rs1553630274	missense variant	-	NC_000003.12:g.30672313A>G	-
TGFBR2	P37173	p.Asp379Val	rs886038847	missense variant	-	NC_000003.12:g.30672319A>T	-
TGFBR2	P37173	p.Asp379Val	RCV000247764	missense variant	-	NC_000003.12:g.30672319A>T	ClinVar
TGFBR2	P37173	p.Lys381Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672324A>G	NCI-TCGA
TGFBR2	P37173	p.Ser382Asn	rs863223844	missense variant	-	NC_000003.12:g.30672328G>A	-
TGFBR2	P37173	p.Ser382Asn	RCV000198413	missense variant	-	NC_000003.12:g.30672328G>A	ClinVar
TGFBR2	P37173	p.Asn384Lys	RCV000589903	missense variant	-	NC_000003.12:g.30672335T>A	ClinVar
TGFBR2	P37173	p.Asn384Lys	rs193922661	missense variant	-	NC_000003.12:g.30672335T>A	-
TGFBR2	P37173	p.Asn384Ser	rs193922660	missense variant	-	NC_000003.12:g.30672334A>G	-
TGFBR2	P37173	p.Asn384Ser	RCV000030542	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672334A>G	ClinVar
TGFBR2	P37173	p.Asn384Lys	RCV000654811	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672335T>A	ClinVar
TGFBR2	P37173	p.Ile385Val	rs137908708	missense variant	-	NC_000003.12:g.30672336A>G	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ile385Val	RCV000250474	missense variant	-	NC_000003.12:g.30672336A>G	ClinVar
TGFBR2	P37173	p.Ile385Val	RCV000822694	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672336A>G	ClinVar
TGFBR2	P37173	p.Ile385Met	rs1400565122	missense variant	-	NC_000003.12:g.30672338C>G	gnomAD
TGFBR2	P37173	p.Val387Leu	rs35766612	missense variant	-	NC_000003.12:g.30672342G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Val387Met	rs35766612	missense variant	-	NC_000003.12:g.30672342G>A	UniProt,dbSNP
TGFBR2	P37173	p.Val387Met	VAR_022355	missense variant	-	NC_000003.12:g.30672342G>A	UniProt
TGFBR2	P37173	p.Val387Met	rs35766612	missense variant	-	NC_000003.12:g.30672342G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Val387Met	RCV000509502	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672342G>A	ClinVar
TGFBR2	P37173	p.Val387Leu	RCV000249454	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672342G>T	ClinVar
TGFBR2	P37173	p.Lys388Arg	rs193922662	missense variant	-	NC_000003.12:g.30672346A>G	-
TGFBR2	P37173	p.Lys388Arg	RCV000586639	missense variant	-	NC_000003.12:g.30672346A>G	ClinVar
TGFBR2	P37173	p.Lys388Arg	RCV000654810	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672346A>G	ClinVar
TGFBR2	P37173	p.Asn389Ser	rs1049576348	missense variant	-	NC_000003.12:g.30672349A>G	TOPMed
TGFBR2	P37173	p.Asp390Asn	COSM5864275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672351G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Leu391Val	rs779762218	missense variant	-	NC_000003.12:g.30672354C>G	ExAC,gnomAD
TGFBR2	P37173	p.Cys393Phe	COSM2983516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672361G>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Cys393Tyr	rs886039106	missense variant	-	NC_000003.12:g.30672361G>A	-
TGFBR2	P37173	p.Cys393Tyr	RCV000253481	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672361G>A	ClinVar
TGFBR2	P37173	p.Cys394Tyr	RCV000556671	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672364G>A	ClinVar
TGFBR2	P37173	p.Cys394Tyr	rs1553630289	missense variant	-	NC_000003.12:g.30672364G>A	-
TGFBR2	P37173	p.Asp397Gly	rs863223846	missense variant	-	NC_000003.12:g.30672373A>G	-
TGFBR2	P37173	p.Asp397Asn	rs863223845	missense variant	-	NC_000003.12:g.30672372G>A	-
TGFBR2	P37173	p.Asp397Gly	RCV000200504	missense variant	-	NC_000003.12:g.30672373A>G	ClinVar
TGFBR2	P37173	p.Asp397Asn	RCV000253663	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672372G>A	ClinVar
TGFBR2	P37173	p.Phe398Leu	rs1036756776	missense variant	-	NC_000003.12:g.30672377T>G	TOPMed
TGFBR2	P37173	p.Ser401Phe	COSM3592333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30672385C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg403Leu	rs143095746	missense variant	-	NC_000003.12:g.30672391G>T	1000Genomes,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg403His	rs143095746	missense variant	-	NC_000003.12:g.30672391G>A	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg403His	RCV000397892	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672391G>A	ClinVar
TGFBR2	P37173	p.Arg403His	RCV000198738	missense variant	-	NC_000003.12:g.30672391G>A	ClinVar
TGFBR2	P37173	p.Arg403His	RCV000338480	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30672391G>A	ClinVar
TGFBR2	P37173	p.Arg403His	RCV000299880	missense variant	Marfan syndrome (MFS)	NC_000003.12:g.30672391G>A	ClinVar
TGFBR2	P37173	p.Arg403Cys	rs886038960	missense variant	-	NC_000003.12:g.30672390C>T	TOPMed
TGFBR2	P37173	p.Arg403His	rs143095746	missense variant	-	NC_000003.12:g.30672391G>A	1000Genomes,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Arg403Cys	RCV000254401	missense variant	-	NC_000003.12:g.30672390C>T	ClinVar
TGFBR2	P37173	p.Arg403Cys	RCV000765725	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672390C>T	ClinVar
TGFBR2	P37173	p.Leu404Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672393C>G	NCI-TCGA
TGFBR2	P37173	p.Pro406Leu	RCV000197266	missense variant	-	NC_000003.12:g.30672400C>T	ClinVar
TGFBR2	P37173	p.Pro406Leu	RCV000208444	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672400C>T	ClinVar
TGFBR2	P37173	p.Pro406Leu	rs748480163	missense variant	-	NC_000003.12:g.30672400C>T	ExAC,gnomAD
TGFBR2	P37173	p.Thr407Ala	RCV000699428	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672402A>G	ClinVar
TGFBR2	P37173	p.Thr407Ile	rs896940233	missense variant	-	NC_000003.12:g.30672403C>T	TOPMed
TGFBR2	P37173	p.Thr407Ser	rs896940233	missense variant	-	NC_000003.12:g.30672403C>G	TOPMed
TGFBR2	P37173	p.Leu408Met	rs770352403	missense variant	-	NC_000003.12:g.30672405C>A	ExAC,gnomAD
TGFBR2	P37173	p.Leu413Gln	RCV000680125	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30672421T>A	ClinVar
TGFBR2	P37173	p.Ala414Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30672423G>A	NCI-TCGA
TGFBR2	P37173	p.Ser416Gly	rs1060501983	missense variant	-	NC_000003.12:g.30672429A>G	-
TGFBR2	P37173	p.Ser416Gly	RCV000464518	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30672429A>G	ClinVar
TGFBR2	P37173	p.Val419Leu	rs863223847	missense variant	-	NC_000003.12:g.30674105G>T	-
TGFBR2	P37173	p.Val419Glu	rs863223848	missense variant	-	NC_000003.12:g.30674106T>A	-
TGFBR2	P37173	p.Val419Leu	RCV000198137	missense variant	-	NC_000003.12:g.30674105G>T	ClinVar
TGFBR2	P37173	p.Val419Glu	RCV000200367	missense variant	-	NC_000003.12:g.30674106T>A	ClinVar
TGFBR2	P37173	p.Gly420Val	RCV000550146	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674109G>T	ClinVar
TGFBR2	P37173	p.Gly420Val	rs1553630426	missense variant	-	NC_000003.12:g.30674109G>T	-
TGFBR2	P37173	p.Thr421Ala	RCV000243905	missense variant	-	NC_000003.12:g.30674111A>G	ClinVar
TGFBR2	P37173	p.Thr421Ala	rs886038787	missense variant	-	NC_000003.12:g.30674111A>G	-
TGFBR2	P37173	p.Arg423Gly	rs771094273	missense variant	-	NC_000003.12:g.30674117A>G	ExAC,gnomAD
TGFBR2	P37173	p.Tyr424Cys	RCV000234122	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674121A>G	ClinVar
TGFBR2	P37173	p.Tyr424His	RCV000756781	missense variant	-	NC_000003.12:g.30674120T>C	ClinVar
TGFBR2	P37173	p.Tyr424Cys	rs878854610	missense variant	-	NC_000003.12:g.30674121A>G	-
TGFBR2	P37173	p.Tyr424Cys	rs878854610	missense variant	-	NC_000003.12:g.30674121A>G	NCI-TCGA
TGFBR2	P37173	p.Met425Val	RCV000013342	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674123A>G	ClinVar
TGFBR2	P37173	p.Met425Thr	RCV000654801	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674124T>C	ClinVar
TGFBR2	P37173	p.Met425Val	rs104893817	missense variant	-	NC_000003.12:g.30674123A>G	-
TGFBR2	P37173	p.Met425Ile	COSM1309023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30674125G>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Met425Thr	rs1553630438	missense variant	-	NC_000003.12:g.30674124T>C	-
TGFBR2	P37173	p.Met425Val	rs104893817	missense variant	-	NC_000003.12:g.30674123A>G	NCI-TCGA
TGFBR2	P37173	p.Ala426Val	RCV000157518	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30674127C>T	ClinVar
TGFBR2	P37173	p.Ala426Asp	RCV000199365	missense variant	-	NC_000003.12:g.30674127C>A	ClinVar
TGFBR2	P37173	p.Ala426Asp	rs730880224	missense variant	-	NC_000003.12:g.30674127C>A	-
TGFBR2	P37173	p.Ala426Val	rs730880224	missense variant	-	NC_000003.12:g.30674127C>T	-
TGFBR2	P37173	p.Ala426Thr	rs863223849	missense variant	-	NC_000003.12:g.30674126G>A	-
TGFBR2	P37173	p.Ala426Thr	rs863223849	missense variant	-	NC_000003.12:g.30674126G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Ala426Thr	RCV000197140	missense variant	-	NC_000003.12:g.30674126G>A	ClinVar
TGFBR2	P37173	p.Pro427Leu	RCV000013343	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674130C>T	ClinVar
TGFBR2	P37173	p.Pro427Ser	RCV000195460	missense variant	-	NC_000003.12:g.30674129C>T	ClinVar
TGFBR2	P37173	p.Pro427Ser	rs863223850	missense variant	-	NC_000003.12:g.30674129C>T	-
TGFBR2	P37173	p.Pro427Leu	rs104893818	missense variant	-	NC_000003.12:g.30674130C>T	-
TGFBR2	P37173	p.Glu428Gln	RCV000037732	missense variant	-	NC_000003.12:g.30674132G>C	ClinVar
TGFBR2	P37173	p.Glu428Gln	rs397516838	missense variant	-	NC_000003.12:g.30674132G>C	-
TGFBR2	P37173	p.Leu430Arg	rs1371233083	missense variant	-	NC_000003.12:g.30674139T>G	gnomAD
TGFBR2	P37173	p.Met434Val	rs1355658397	missense variant	-	NC_000003.12:g.30674150A>G	TOPMed
TGFBR2	P37173	p.Asn435Ser	VAR_022356	Missense	-	-	UniProt
TGFBR2	P37173	p.Val439Ala	rs1050833	missense variant	-	NC_000003.12:g.30674166T>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Glu440LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30674165_30674166insTT	NCI-TCGA
TGFBR2	P37173	p.Glu440Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30674168G>A	NCI-TCGA
TGFBR2	P37173	p.Ser441Phe	COSM185101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30674172C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Gln444His	rs775637046	missense variant	-	NC_000003.12:g.30674182G>T	ExAC,gnomAD
TGFBR2	P37173	p.Thr445Asn	rs886038936	missense variant	-	NC_000003.12:g.30674184C>A	-
TGFBR2	P37173	p.Thr445Asn	RCV000687203	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674184C>A	ClinVar
TGFBR2	P37173	p.Thr445Asn	RCV000243893	missense variant	-	NC_000003.12:g.30674184C>A	ClinVar
TGFBR2	P37173	p.Asp446Asn	RCV000624602	missense variant	Loeys-Dietz syndrome 1 (LDS1)	NC_000003.12:g.30674186G>A	ClinVar
TGFBR2	P37173	p.Asp446Glu	RCV000197000	missense variant	-	NC_000003.12:g.30674188T>G	ClinVar
TGFBR2	P37173	p.Asp446Glu	rs863223851	missense variant	-	NC_000003.12:g.30674188T>G	-
TGFBR2	P37173	p.Asp446Asn	rs886039551	missense variant	-	NC_000003.12:g.30674186G>A	-
TGFBR2	P37173	p.Asp446Asn	RCV000692078	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674186G>A	ClinVar
TGFBR2	P37173	p.Asp446Asn	rs886039551	missense variant	-	NC_000003.12:g.30674186G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Val447Ile	rs750434928	missense variant	-	NC_000003.12:g.30674189G>A	ExAC,gnomAD
TGFBR2	P37173	p.Val447Ala	VAR_022357	Missense	-	-	UniProt
TGFBR2	P37173	p.Ser449Phe	RCV000013330	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674196C>T	ClinVar
TGFBR2	P37173	p.Ser449Cys	RCV000469243	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674196C>G	ClinVar
TGFBR2	P37173	p.Ser449Phe	rs104893807	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674196C>T	UniProt,dbSNP
TGFBR2	P37173	p.Ser449Phe	VAR_022358	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674196C>T	UniProt
TGFBR2	P37173	p.Ser449Phe	rs104893807	missense variant	-	NC_000003.12:g.30674196C>T	-
TGFBR2	P37173	p.Ser449Cys	rs104893807	missense variant	-	NC_000003.12:g.30674196C>G	-
TGFBR2	P37173	p.Met450Ile	rs1480594626	missense variant	-	NC_000003.12:g.30674200G>A	TOPMed
TGFBR2	P37173	p.Leu452Met	VAR_022359	Missense	-	-	UniProt
TGFBR2	P37173	p.Glu456Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.30674216G>T	NCI-TCGA
TGFBR2	P37173	p.Glu456Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30674217A>G	NCI-TCGA
TGFBR2	P37173	p.Met457Ile	rs1218684641	missense variant	-	NC_000003.12:g.30674221G>T	gnomAD
TGFBR2	P37173	p.Met457Lys	VAR_066726	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
TGFBR2	P37173	p.Ser459Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30674225T>C	NCI-TCGA
TGFBR2	P37173	p.Arg460Cys	RCV000013339	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674228C>T	ClinVar
TGFBR2	P37173	p.Arg460Cys	RCV000654788	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674228C>T	ClinVar
TGFBR2	P37173	p.Arg460Cys	RCV000252297	missense variant	-	NC_000003.12:g.30674228C>T	ClinVar
TGFBR2	P37173	p.Arg460Leu	RCV000654802	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674229G>T	ClinVar
TGFBR2	P37173	p.Arg460Cys	rs104893811	missense variant	-	NC_000003.12:g.30674228C>T	-
TGFBR2	P37173	p.Arg460Cys	rs104893811	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674228C>T	UniProt,dbSNP
TGFBR2	P37173	p.Arg460Cys	VAR_029760	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674228C>T	UniProt
TGFBR2	P37173	p.Arg460Leu	rs104893816	missense variant	-	NC_000003.12:g.30674229G>T	gnomAD
TGFBR2	P37173	p.Arg460His	rs104893816	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674229G>A	UniProt,dbSNP
TGFBR2	P37173	p.Arg460His	VAR_029761	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674229G>A	UniProt
TGFBR2	P37173	p.Arg460His	rs104893816	missense variant	-	NC_000003.12:g.30674229G>A	gnomAD
TGFBR2	P37173	p.Arg460His	rs104893816	missense variant	-	NC_000003.12:g.30674229G>A	NCI-TCGA
TGFBR2	P37173	p.Arg460His	RCV000013340	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674229G>A	ClinVar
TGFBR2	P37173	p.Arg460Cys	RCV000199227	missense variant	-	NC_000003.12:g.30674228C>T	ClinVar
TGFBR2	P37173	p.Arg460His	RCV000196002	missense variant	-	NC_000003.12:g.30674229G>A	ClinVar
TGFBR2	P37173	p.Arg460His	RCV000702388	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30674229G>A	ClinVar
TGFBR2	P37173	p.Arg460Cys	rs104893811	missense variant	-	NC_000003.12:g.30674228C>T	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Cys461Tyr	RCV000143955	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30674232G>A	ClinVar
TGFBR2	P37173	p.Cys461Arg	RCV000499370	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30674231T>C	ClinVar
TGFBR2	P37173	p.Cys461Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.30674233T>A	NCI-TCGA
TGFBR2	P37173	p.Cys461LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30674232G>-	NCI-TCGA
TGFBR2	P37173	p.Cys461Tyr	rs587782979	missense variant	-	NC_000003.12:g.30674232G>A	-
TGFBR2	P37173	p.Cys461Arg	rs1553630457	missense variant	-	NC_000003.12:g.30674231T>C	-
TGFBR2	P37173	p.Gly465Ter	rs144766594	stop gained	-	NC_000003.12:g.30674243G>T	ESP,ExAC,gnomAD
TGFBR2	P37173	p.Glu466Val	rs1321865816	missense variant	-	NC_000003.12:g.30688384A>T	TOPMed,gnomAD
TGFBR2	P37173	p.Lys468Gln	COSM76715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30688389A>C	NCI-TCGA Cosmic
TGFBR2	P37173	p.Asp469His	rs1407331537	missense variant	-	NC_000003.12:g.30688392G>C	gnomAD
TGFBR2	P37173	p.Asp469Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30688392G>T	NCI-TCGA
TGFBR2	P37173	p.Asp469Val	rs772076729	missense variant	-	NC_000003.12:g.30688393A>T	ExAC,gnomAD
TGFBR2	P37173	p.Asp469Gly	rs772076729	missense variant	-	NC_000003.12:g.30688393A>G	ExAC,gnomAD
TGFBR2	P37173	p.Tyr470Ter	RCV000598649	nonsense	-	NC_000003.12:g.30688397T>G	ClinVar
TGFBR2	P37173	p.Tyr470Phe	rs760797386	missense variant	-	NC_000003.12:g.30688396A>T	ExAC,gnomAD
TGFBR2	P37173	p.Tyr470Asp	rs863224935	missense variant	-	NC_000003.12:g.30688395T>G	-
TGFBR2	P37173	p.Tyr470Asp	RCV000253606	missense variant	-	NC_000003.12:g.30688395T>G	ClinVar
TGFBR2	P37173	p.Tyr470Ter	rs1553631696	stop gained	-	NC_000003.12:g.30688397T>G	-
TGFBR2	P37173	p.Glu471GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30688399_30688409AGCCTCCATTT>-	NCI-TCGA
TGFBR2	P37173	p.Pro473Gln	RCV000037733	missense variant	-	NC_000003.12:g.30688405C>A	ClinVar
TGFBR2	P37173	p.Pro473Gln	rs397516839	missense variant	-	NC_000003.12:g.30688405C>A	-
TGFBR2	P37173	p.Pro473Leu	rs397516839	missense variant	-	NC_000003.12:g.30688405C>T	-
TGFBR2	P37173	p.Pro473Leu	RCV000197541	missense variant	-	NC_000003.12:g.30688405C>T	ClinVar
TGFBR2	P37173	p.Phe474Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30688408T>A	NCI-TCGA
TGFBR2	P37173	p.Ser476Phe	rs769682815	missense variant	-	NC_000003.12:g.30688414C>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Lys477Asn	rs1182402824	missense variant	-	NC_000003.12:g.30688418G>C	TOPMed
TGFBR2	P37173	p.Val478Leu	rs1180382801	missense variant	-	NC_000003.12:g.30688419G>C	gnomAD
TGFBR2	P37173	p.Arg479Gln	rs1553631704	missense variant	-	NC_000003.12:g.30688423G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg479Gln	RCV000548667	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688423G>A	ClinVar
TGFBR2	P37173	p.Arg479Trp	rs1444024775	missense variant	-	NC_000003.12:g.30688422C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg479Trp	rs1444024775	missense variant	-	NC_000003.12:g.30688422C>T	TOPMed
TGFBR2	P37173	p.Arg479Gln	rs1553631704	missense variant	-	NC_000003.12:g.30688423G>A	-
TGFBR2	P37173	p.Glu480Ter	COSM4752024	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.30688425G>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Glu480Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30688425G>A	NCI-TCGA
TGFBR2	P37173	p.His481Tyr	rs762756916	missense variant	-	NC_000003.12:g.30688428C>T	ExAC,gnomAD
TGFBR2	P37173	p.His481Tyr	RCV000781900	missense variant	-	NC_000003.12:g.30688428C>T	ClinVar
TGFBR2	P37173	p.Pro482Thr	COSM4116813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30688431C>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Val484Ter	RCV000770349	frameshift	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688433_30688434del	ClinVar
TGFBR2	P37173	p.Glu485Lys	COSM446340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30688440G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Met487Leu	rs767120937	missense variant	-	NC_000003.12:g.30688446A>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Met487Val	rs767120937	missense variant	-	NC_000003.12:g.30688446A>G	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Met487Ile	rs752444160	missense variant	-	NC_000003.12:g.30688448G>A	ExAC,gnomAD
TGFBR2	P37173	p.Asn490Ser	VAR_041417	Missense	-	-	UniProt
TGFBR2	P37173	p.Val491Met	rs754176932	missense variant	-	NC_000003.12:g.30688458G>A	NCI-TCGA
TGFBR2	P37173	p.Val491Met	rs754176932	missense variant	-	NC_000003.12:g.30688458G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Val491Leu	rs754176932	missense variant	-	NC_000003.12:g.30688458G>C	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Val491Met	RCV000590654	missense variant	-	NC_000003.12:g.30688458G>A	ClinVar
TGFBR2	P37173	p.Leu492Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30688462T>C	NCI-TCGA
TGFBR2	P37173	p.Leu492Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30688463G>C	NCI-TCGA
TGFBR2	P37173	p.Arg495Ter	RCV000013344	nonsense	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30688470C>T	ClinVar
TGFBR2	P37173	p.Arg495Ter	RCV000253575	nonsense	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688470C>T	ClinVar
TGFBR2	P37173	p.Arg495Ter	RCV000195964	nonsense	-	NC_000003.12:g.30688470C>T	ClinVar
TGFBR2	P37173	p.Arg495Ter	RCV000157519	nonsense	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30688470C>T	ClinVar
TGFBR2	P37173	p.Arg495Gln	rs1305853447	missense variant	-	NC_000003.12:g.30688471G>A	NCI-TCGA
TGFBR2	P37173	p.Arg495Gly	rs104893819	missense variant	-	NC_000003.12:g.30688470C>G	TOPMed
TGFBR2	P37173	p.Arg495Gln	rs1305853447	missense variant	-	NC_000003.12:g.30688471G>A	TOPMed,gnomAD
TGFBR2	P37173	p.Arg495Leu	rs1305853447	missense variant	-	NC_000003.12:g.30688471G>T	TOPMed,gnomAD
TGFBR2	P37173	p.Arg495Ter	rs104893819	stop gained	-	NC_000003.12:g.30688470C>T	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg495Ter	RCV000763512	nonsense	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30688470C>T	ClinVar
TGFBR2	P37173	p.Arg495Ter	rs104893819	stop gained	-	NC_000003.12:g.30688470C>T	TOPMed
TGFBR2	P37173	p.Arg497Ter	RCV000244033	nonsense	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688476C>T	ClinVar
TGFBR2	P37173	p.Arg497Ter	RCV000490801	nonsense	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30688476C>T	ClinVar
TGFBR2	P37173	p.Arg497Ter	RCV000680613	nonsense	Connective tissue disorder	NC_000003.12:g.30688476C>T	ClinVar
TGFBR2	P37173	p.Arg497LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30688476_30688477insT	NCI-TCGA
TGFBR2	P37173	p.Arg497Gln	rs200958264	missense variant	-	NC_000003.12:g.30688477G>A	1000Genomes,ExAC,gnomAD
TGFBR2	P37173	p.Arg497Ter	rs863223852	stop gained	-	NC_000003.12:g.30688476C>T	gnomAD
TGFBR2	P37173	p.Arg497Ter	rs863223852	stop gained	-	NC_000003.12:g.30688476C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Pro498Ala	RCV000552840	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30688479C>G	ClinVar
TGFBR2	P37173	p.Pro498Ala	rs1553631720	missense variant	-	NC_000003.12:g.30688479C>G	-
TGFBR2	P37173	p.Glu499Ter	rs397516840	stop gained	-	NC_000003.12:g.30688482G>T	-
TGFBR2	P37173	p.Glu499Ter	rs397516840	stop gained	-	NC_000003.12:g.30688482G>T	NCI-TCGA
TGFBR2	P37173	p.Glu499Ter	RCV000037735	nonsense	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30688482G>T	ClinVar
TGFBR2	P37173	p.Pro501Ser	COSM3592341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30688488C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Pro501Leu	rs746373651	missense variant	-	NC_000003.12:g.30688489C>T	ExAC,gnomAD
TGFBR2	P37173	p.Ser502GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30688487_30688488insC	NCI-TCGA
TGFBR2	P37173	p.Phe503Leu	rs772201128	missense variant	-	NC_000003.12:g.30688494T>C	ExAC,gnomAD
TGFBR2	P37173	p.Asn506Ser	rs780087626	missense variant	-	NC_000003.12:g.30688504A>G	ExAC,gnomAD
TGFBR2	P37173	p.His507Tyr	rs747068726	missense variant	-	NC_000003.12:g.30688506C>T	ExAC,gnomAD
TGFBR2	P37173	p.Gln508Ter	rs776851006	stop gained	-	NC_000003.12:g.30688509C>T	ExAC,gnomAD
TGFBR2	P37173	p.Gly509Val	RCV000801577	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691421G>T	ClinVar
TGFBR2	P37173	p.Gly509Val	rs863223853	missense variant	-	NC_000003.12:g.30691421G>T	-
TGFBR2	P37173	p.Ile510Ter	RCV000227819	frameshift	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691424del	ClinVar
TGFBR2	P37173	p.Ile510Thr	rs1378593393	missense variant	-	NC_000003.12:g.30691424T>C	TOPMed
TGFBR2	P37173	p.Ile510Ser	VAR_066729	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
TGFBR2	P37173	p.Ile510Phe	VAR_066728	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
TGFBR2	P37173	p.Gln511Ter	RCV000456592	nonsense	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691426C>T	ClinVar
TGFBR2	P37173	p.Gln511Ter	rs1060501984	stop gained	-	NC_000003.12:g.30691426C>T	-
TGFBR2	P37173	p.Met512Ile	rs1166402557	missense variant	-	NC_000003.12:g.30691431G>T	gnomAD
TGFBR2	P37173	p.Val513Leu	rs1331629729	missense variant	-	NC_000003.12:g.30691432G>C	TOPMed
TGFBR2	P37173	p.Cys514Arg	RCV000030548	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691435T>C	ClinVar
TGFBR2	P37173	p.Cys514Arg	rs193922664	missense variant	-	NC_000003.12:g.30691435T>C	-
TGFBR2	P37173	p.Thr516Ser	RCV000660593	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691441A>T	ClinVar
TGFBR2	P37173	p.Thr516Met	RCV000469702	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691442C>T	ClinVar
TGFBR2	P37173	p.Thr516Ser	rs370708687	missense variant	-	NC_000003.12:g.30691441A>T	ESP,TOPMed
TGFBR2	P37173	p.Thr516Ser	RCV000197820	missense variant	-	NC_000003.12:g.30691441A>T	ClinVar
TGFBR2	P37173	p.Thr516Met	rs149847376	missense variant	-	NC_000003.12:g.30691442C>T	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Leu517Met	RCV000774494	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691444T>A	ClinVar
TGFBR2	P37173	p.Thr518Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30691448C>G	NCI-TCGA
TGFBR2	P37173	p.Glu519Lys	COSM129691	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691450G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Trp521Ter	RCV000656212	nonsense	Wolff-Parkinson-White pattern	NC_000003.12:g.30691458G>A	ClinVar
TGFBR2	P37173	p.Trp521Ter	rs1553631968	stop gained	-	NC_000003.12:g.30691458G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Trp521Ter	RCV000699504	nonsense	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691458G>A	ClinVar
TGFBR2	P37173	p.Trp521Ter	rs1553631968	stop gained	-	NC_000003.12:g.30691458G>A	-
TGFBR2	P37173	p.Trp521Arg	VAR_066731	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
TGFBR2	P37173	p.Asp522Asn	RCV000198083	missense variant	-	NC_000003.12:g.30691459G>A	ClinVar
TGFBR2	P37173	p.Asp522Ala	RCV000473289	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691460A>C	ClinVar
TGFBR2	P37173	p.Asp522Ala	rs886038768	missense variant	-	NC_000003.12:g.30691460A>C	-
TGFBR2	P37173	p.Asp522Asn	rs863223854	missense variant	-	NC_000003.12:g.30691459G>A	-
TGFBR2	P37173	p.Asp522Val	rs886038768	missense variant	-	NC_000003.12:g.30691460A>T	-
TGFBR2	P37173	p.Asp522Val	RCV000249863	missense variant	-	NC_000003.12:g.30691460A>T	ClinVar
TGFBR2	P37173	p.His523Asp	rs775441401	missense variant	-	NC_000003.12:g.30691462C>G	ExAC,gnomAD
TGFBR2	P37173	p.His523ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.30691458_30691459insGACC	NCI-TCGA
TGFBR2	P37173	p.His523Tyr	rs775441401	missense variant	-	NC_000003.12:g.30691462C>T	ExAC,gnomAD
TGFBR2	P37173	p.Asp524Tyr	RCV000154616	missense variant	-	NC_000003.12:g.30691465G>T	ClinVar
TGFBR2	P37173	p.Asp524Gly	COSM2983539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691466A>G	NCI-TCGA Cosmic
TGFBR2	P37173	p.Asp524Tyr	rs727504421	missense variant	-	NC_000003.12:g.30691465G>T	-
TGFBR2	P37173	p.Asp524Asn	rs727504421	missense variant	-	NC_000003.12:g.30691465G>A	-
TGFBR2	P37173	p.Asp524Tyr	rs727504421	missense variant	-	NC_000003.12:g.30691465G>T	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Asp524Asn	RCV000157520	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691465G>A	ClinVar
TGFBR2	P37173	p.Pro525Ser	COSM3592343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691468C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Glu526Gln	RCV000688883	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691471G>C	ClinVar
TGFBR2	P37173	p.Glu526Lys	COSM4889224	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691471G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Glu526Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30691472A>T	NCI-TCGA
TGFBR2	P37173	p.Glu526Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.30691471G>T	NCI-TCGA
TGFBR2	P37173	p.Glu526Gln	rs121918714	missense variant	-	NC_000003.12:g.30691471G>C	-
TGFBR2	P37173	p.Glu526Gln	rs121918714	missense variant	-	NC_000003.12:g.30691471G>C	UniProt,dbSNP
TGFBR2	P37173	p.Glu526Gln	VAR_015816	missense variant	-	NC_000003.12:g.30691471G>C	UniProt
TGFBR2	P37173	p.Ala527Val	RCV000588481	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691475C>T	ClinVar
TGFBR2	P37173	p.Ala527Val	rs727503476	missense variant	-	NC_000003.12:g.30691475C>T	-
TGFBR2	P37173	p.Arg528Cys	RCV000197944	missense variant	-	NC_000003.12:g.30691477C>T	ClinVar
TGFBR2	P37173	p.Arg528His	RCV000013335	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691478G>A	ClinVar
TGFBR2	P37173	p.Arg528Cys	RCV000691207	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691477C>T	ClinVar
TGFBR2	P37173	p.Arg528Cys	RCV000013337	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691477C>T	ClinVar
TGFBR2	P37173	p.Arg528Cys	rs104893810	missense variant	-	NC_000003.12:g.30691477C>T	-
TGFBR2	P37173	p.Arg528Cys	rs104893810	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691477C>T	UniProt,dbSNP
TGFBR2	P37173	p.Arg528Cys	VAR_022360	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691477C>T	UniProt
TGFBR2	P37173	p.Arg528His	rs104893815	missense variant	-	NC_000003.12:g.30691478G>A	-
TGFBR2	P37173	p.Arg528His	rs104893815	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691478G>A	UniProt,dbSNP
TGFBR2	P37173	p.Arg528His	VAR_022361	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691478G>A	UniProt
TGFBR2	P37173	p.Arg528His	RCV000013336	missense variant	Hereditary nonpolyposis colorectal cancer type 6 (HNPCC6)	NC_000003.12:g.30691478G>A	ClinVar
TGFBR2	P37173	p.Arg528Cys	RCV000825631	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691477C>T	ClinVar
TGFBR2	P37173	p.Arg528His	RCV000654809	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691478G>A	ClinVar
TGFBR2	P37173	p.Arg528His	RCV000200178	missense variant	-	NC_000003.12:g.30691478G>A	ClinVar
TGFBR2	P37173	p.Arg528His	RCV000211858	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691478G>A	ClinVar
TGFBR2	P37173	p.Arg528Cys	rs104893810	missense variant	-	NC_000003.12:g.30691477C>T	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg528His	rs104893815	missense variant	-	NC_000003.12:g.30691478G>A	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Leu529Phe	COSM2152000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691480C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Thr530Ile	COSM4820429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691484C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Thr530Ile	VAR_076171	Missense	Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]	-	UniProt
TGFBR2	P37173	p.Ala531Thr	rs727503477	missense variant	-	NC_000003.12:g.30691486G>A	-
TGFBR2	P37173	p.Ala531Thr	RCV000152013	missense variant	Loeys-Dietz syndrome (LDS)	NC_000003.12:g.30691486G>A	ClinVar
TGFBR2	P37173	p.Gln532Arg	rs1196415682	missense variant	-	NC_000003.12:g.30691490A>G	gnomAD
TGFBR2	P37173	p.Gln532Pro	rs1196415682	missense variant	-	NC_000003.12:g.30691490A>C	gnomAD
TGFBR2	P37173	p.Val534Met	rs1275235989	missense variant	-	NC_000003.12:g.30691495G>A	gnomAD
TGFBR2	P37173	p.Ala535Ter	RCV000013324	frameshift	Hereditary nonpolyposis colorectal cancer type 6 (HNPCC6)	NC_000003.12:g.30691492_30691493TG[4]	ClinVar
TGFBR2	P37173	p.Arg537Cys	RCV000196289	missense variant	-	NC_000003.12:g.30691504C>T	ClinVar
TGFBR2	P37173	p.Arg537Cys	RCV000529794	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691504C>T	ClinVar
TGFBR2	P37173	p.Arg537His	RCV000429672	missense variant	-	NC_000003.12:g.30691505G>A	ClinVar
TGFBR2	P37173	p.Arg537Cys	rs104893809	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691504C>T	UniProt,dbSNP
TGFBR2	P37173	p.Arg537Cys	VAR_022362	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691504C>T	UniProt
TGFBR2	P37173	p.Arg537Cys	rs104893809	missense variant	-	NC_000003.12:g.30691504C>T	-
TGFBR2	P37173	p.Arg537His	rs1057524810	missense variant	-	NC_000003.12:g.30691505G>A	gnomAD
TGFBR2	P37173	p.Arg537Cys	rs104893809	missense variant	-	NC_000003.12:g.30691504C>T	NCI-TCGA,NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg537His	rs1057524810	missense variant	-	NC_000003.12:g.30691505G>A	NCI-TCGA Cosmic
TGFBR2	P37173	p.Arg537Cys	RCV000013331	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691504C>T	ClinVar
TGFBR2	P37173	p.Ser539Ile	rs1035228561	missense variant	-	NC_000003.12:g.30691511G>T	TOPMed,gnomAD
TGFBR2	P37173	p.Glu540Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.30691513G>T	NCI-TCGA
TGFBR2	P37173	p.Glu542Asp	rs375226321	missense variant	-	NC_000003.12:g.30691521G>T	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Leu544Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30691525C>A	NCI-TCGA
TGFBR2	P37173	p.Asp545Glu	rs1178327690	missense variant	-	NC_000003.12:g.30691530C>G	TOPMed
TGFBR2	P37173	p.Leu547Phe	rs752099306	missense variant	-	NC_000003.12:g.30691534C>T	ExAC,gnomAD
TGFBR2	P37173	p.Ser548Leu	rs755070814	missense variant	-	NC_000003.12:g.30691538C>T	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ser548Leu	RCV000464975	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000003.12:g.30691538C>T	ClinVar
TGFBR2	P37173	p.Gly549Trp	rs748418894	missense variant	-	NC_000003.12:g.30691540G>T	ExAC,TOPMed
TGFBR2	P37173	p.Gly549Trp	RCV000590443	missense variant	-	NC_000003.12:g.30691540G>T	ClinVar
TGFBR2	P37173	p.Ser553Thr	RCV000152014	missense variant	-	NC_000003.12:g.30691552T>A	ClinVar
TGFBR2	P37173	p.Ser553Leu	rs569635708	missense variant	-	NC_000003.12:g.30691553C>T	1000Genomes,ExAC,TOPMed
TGFBR2	P37173	p.Ser553Thr	rs112215250	missense variant	-	NC_000003.12:g.30691552T>A	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Glu555Lys	rs1325892805	missense variant	-	NC_000003.12:g.30691558G>A	gnomAD
TGFBR2	P37173	p.Asp560Glu	RCV000154536	missense variant	-	NC_000003.12:g.30691575C>G	ClinVar
TGFBR2	P37173	p.Asp560Glu	rs376815143	missense variant	-	NC_000003.12:g.30691575C>G	ESP,ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Gly561Ala	RCV000768335	missense variant	Loeys-Dietz syndrome 2 (LDS2)	NC_000003.12:g.30691577G>C	ClinVar
TGFBR2	P37173	p.Gly561Ser	rs768103695	missense variant	-	NC_000003.12:g.30691576G>A	NCI-TCGA
TGFBR2	P37173	p.Gly561Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.30691577G>A	NCI-TCGA
TGFBR2	P37173	p.Gly561Ser	rs768103695	missense variant	-	NC_000003.12:g.30691576G>A	ExAC,TOPMed,gnomAD
TGFBR2	P37173	p.Ser562Phe	COSM2983548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.30691580C>T	NCI-TCGA Cosmic
TGFBR2	P37173	p.Thr566Ala	rs761275220	missense variant	-	NC_000003.12:g.30691591A>G	ExAC,gnomAD
TGFBR2	P37173	p.Lys567Thr	rs772782677	missense variant	-	NC_000003.12:g.30691595A>C	ExAC,gnomAD
ZEB1	P37275	p.Met1Ile	RCV000579251	missense variant	-	NC_000010.11:g.31319237G>A	ClinVar
ZEB1	P37275	p.Gly4Ser	rs1212348980	missense variant	-	NC_000010.11:g.31319244G>A	gnomAD
ZEB1	P37275	p.Pro5Ala	rs753301298	missense variant	-	NC_000010.11:g.31319247C>G	ExAC,gnomAD
ZEB1	P37275	p.Ala13Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31319271G>T	NCI-TCGA
ZEB1	P37275	p.Ala13Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31319272C>A	NCI-TCGA
ZEB1	P37275	p.Asn19His	rs757931860	missense variant	-	NC_000010.11:g.31319289A>C	ExAC,gnomAD
ZEB1	P37275	p.Asn19Asp	COSM4013763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31319289A>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Asn19Ser	COSM6065862	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31319290A>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Val20Ile	rs985340759	missense variant	-	NC_000010.11:g.31319292G>A	TOPMed,gnomAD
ZEB1	P37275	p.Thr21Ser	rs1204510408	missense variant	-	NC_000010.11:g.31461039A>T	TOPMed
ZEB1	P37275	p.Thr21Ile	rs767580895	missense variant	-	NC_000010.11:g.31461040C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asn22Lys	rs1261279600	missense variant	-	NC_000010.11:g.31461044T>G	TOPMed
ZEB1	P37275	p.Tyr23Phe	rs1335257508	missense variant	-	NC_000010.11:g.31461046A>T	TOPMed,gnomAD
ZEB1	P37275	p.Tyr23Cys	rs1335257508	missense variant	-	NC_000010.11:g.31461046A>G	TOPMed,gnomAD
ZEB1	P37275	p.Tyr23Asn	COSM684501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31461045T>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Thr25Ser	rs1244005876	missense variant	-	NC_000010.11:g.31461052C>G	gnomAD
ZEB1	P37275	p.Val26Leu	rs760853422	missense variant	-	NC_000010.11:g.31461054G>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Thr29Ala	rs375120441	missense variant	-	NC_000010.11:g.31461063A>G	ESP,ExAC,gnomAD
ZEB1	P37275	p.Asp32Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31461072G>A	NCI-TCGA
ZEB1	P37275	p.Ser33Ala	rs754149862	missense variant	-	NC_000010.11:g.31461075T>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp34His	rs1452862910	missense variant	-	NC_000010.11:g.31461078G>C	TOPMed
ZEB1	P37275	p.Asp34Gly	rs757485471	missense variant	-	NC_000010.11:g.31461079A>G	ExAC,gnomAD
ZEB1	P37275	p.Asp35Glu	rs1181318721	missense variant	-	NC_000010.11:g.31461083T>A	gnomAD
ZEB1	P37275	p.Asp35His	rs1441663091	missense variant	-	NC_000010.11:g.31461081G>C	gnomAD
ZEB1	P37275	p.Glu36Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31461084G>A	NCI-TCGA
ZEB1	P37275	p.Asp37Val	rs765378809	missense variant	-	NC_000010.11:g.31461088A>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp37Gly	rs765378809	missense variant	-	NC_000010.11:g.31461088A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp37Asn	rs1404751391	missense variant	-	NC_000010.11:g.31461087G>A	TOPMed
ZEB1	P37275	p.Lys38Arg	rs184444132	missense variant	-	NC_000010.11:g.31461091A>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu39Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31461094T>A	NCI-TCGA
ZEB1	P37275	p.His40Asn	rs369331715	missense variant	-	NC_000010.11:g.31461096C>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu43Lys	rs1167820112	missense variant	-	NC_000010.11:g.31461105G>A	TOPMed
ZEB1	P37275	p.Glu45Gly	rs990850085	missense variant	-	NC_000010.11:g.31461112A>G	TOPMed,gnomAD
ZEB1	P37275	p.Ser46Gly	rs1468006781	missense variant	-	NC_000010.11:g.31461114A>G	gnomAD
ZEB1	P37275	p.Asp49Val	rs759313503	missense variant	-	NC_000010.11:g.31461124A>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp49Gly	rs759313503	missense variant	-	NC_000010.11:g.31461124A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala50Val	rs1450935470	missense variant	-	NC_000010.11:g.31461127C>T	gnomAD
ZEB1	P37275	p.Ala50Thr	rs535982435	missense variant	-	NC_000010.11:g.31461126G>A	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Ala51Val	rs748737847	missense variant	-	NC_000010.11:g.31461130C>T	ExAC,gnomAD
ZEB1	P37275	p.Asp52His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31461132G>C	NCI-TCGA
ZEB1	P37275	p.Cys53Phe	rs770735081	missense variant	-	NC_000010.11:g.31461136G>T	ExAC,gnomAD
ZEB1	P37275	p.Gly55Arg	rs745709708	missense variant	-	NC_000010.11:g.31461141G>C	ExAC,gnomAD
ZEB1	P37275	p.Pro57Thr	rs1449875279	missense variant	-	NC_000010.11:g.31461147C>A	TOPMed,gnomAD
ZEB1	P37275	p.Pro57Leu	rs774967314	missense variant	-	NC_000010.11:g.31461148C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp59Gly	rs941960318	missense variant	-	NC_000010.11:g.31461154A>G	TOPMed,gnomAD
ZEB1	P37275	p.Asp59His	rs1201536450	missense variant	-	NC_000010.11:g.31461153G>C	gnomAD
ZEB1	P37275	p.Asp59Val	rs941960318	missense variant	-	NC_000010.11:g.31461154A>T	TOPMed,gnomAD
ZEB1	P37275	p.Asp60Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31461156G>T	NCI-TCGA
ZEB1	P37275	p.Leu61Arg	rs776579743	missense variant	-	NC_000010.11:g.31461160T>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro62Ser	rs1434424475	missense variant	-	NC_000010.11:g.31461162C>T	gnomAD
ZEB1	P37275	p.Gln65Lys	rs765467681	missense variant	-	NC_000010.11:g.31461171C>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Val67Met	rs967420897	missense variant	-	NC_000010.11:g.31461177G>A	TOPMed
ZEB1	P37275	p.Pro69Thr	rs1161810435	missense variant	-	NC_000010.11:g.31461183C>A	gnomAD
ZEB1	P37275	p.Pro69Leu	rs1389905301	missense variant	-	NC_000010.11:g.31461184C>T	gnomAD
ZEB1	P37275	p.Gly70Glu	rs758828036	missense variant	-	NC_000010.11:g.31461187G>A	ExAC,gnomAD
ZEB1	P37275	p.Gly70Trp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31461186G>T	NCI-TCGA
ZEB1	P37275	p.Ser72Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31461193G>T	NCI-TCGA
ZEB1	P37275	p.Ser72Asn	rs1312443585	missense variant	-	NC_000010.11:g.31461193G>A	TOPMed
ZEB1	P37275	p.Glu74Lys	rs1051536569	missense variant	-	NC_000010.11:g.31461198G>A	TOPMed,gnomAD
ZEB1	P37275	p.Arg75Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31461202G>A	NCI-TCGA
ZEB1	P37275	p.Glu76Lys	rs1369755728	missense variant	-	NC_000010.11:g.31461204G>A	gnomAD
ZEB1	P37275	p.Glu76Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31461204G>T	NCI-TCGA
ZEB1	P37275	p.Asn78Thr	rs80194531	missense variant	Corneal dystrophy, fuchs endothelial, 6 (fecd6)	NC_000010.11:g.31461211A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asn78Thr	RCV000013468	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31461211A>C	ClinVar
ZEB1	P37275	p.Asn81Tyr	rs1301814565	missense variant	-	NC_000010.11:g.31461219A>T	gnomAD
ZEB1	P37275	p.Asn81Ser	rs189276857	missense variant	-	NC_000010.11:g.31461220A>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp85Asn	rs1329650489	missense variant	-	NC_000010.11:g.31461231G>A	TOPMed,gnomAD
ZEB1	P37275	p.Asp85Tyr	rs1329650489	missense variant	-	NC_000010.11:g.31461231G>T	TOPMed,gnomAD
ZEB1	P37275	p.Glu89Lys	rs1431720944	missense variant	-	NC_000010.11:g.31495784G>A	gnomAD
ZEB1	P37275	p.Gly90Arg	rs12217419	missense variant	-	NC_000010.11:g.31495787G>A	UniProt,dbSNP
ZEB1	P37275	p.Gly90Arg	VAR_052731	missense variant	-	NC_000010.11:g.31495787G>A	UniProt
ZEB1	P37275	p.Gly90Arg	rs12217419	missense variant	-	NC_000010.11:g.31495787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu92Gly	rs887907985	missense variant	-	NC_000010.11:g.31495794A>G	TOPMed
ZEB1	P37275	p.Leu94Pro	rs767954422	missense variant	-	NC_000010.11:g.31495800T>C	ExAC,gnomAD
ZEB1	P37275	p.Pro96Leu	COSM3437219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31495806C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Ala98Thr	rs756898403	missense variant	-	NC_000010.11:g.31495811G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala98Ser	rs756898403	missense variant	-	NC_000010.11:g.31495811G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu102Lys	COSM3437221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31495823G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Ala103Thr	rs778555980	missense variant	-	NC_000010.11:g.31495826G>A	ExAC,gnomAD
ZEB1	P37275	p.Gly104Ala	rs749898525	missense variant	-	NC_000010.11:g.31495830G>C	ExAC,gnomAD
ZEB1	P37275	p.Gly104Ter	COSM917691	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31495829G>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Gly104Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31495829G>A	NCI-TCGA
ZEB1	P37275	p.Cys105Tyr	rs367732931	missense variant	-	NC_000010.11:g.31495833G>A	ESP,TOPMed
ZEB1	P37275	p.Cys105Phe	rs367732931	missense variant	-	NC_000010.11:g.31495833G>T	ESP,TOPMed
ZEB1	P37275	p.Lys108Glu	rs1338224945	missense variant	-	NC_000010.11:g.31502350A>G	gnomAD
ZEB1	P37275	p.Asp110Asn	rs757878118	missense variant	-	NC_000010.11:g.31502356G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu111Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31502359G>A	NCI-TCGA
ZEB1	P37275	p.Glu113Lys	rs369476602	missense variant	-	NC_000010.11:g.31502365G>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu113Gln	rs369476602	missense variant	-	NC_000010.11:g.31502365G>C	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu113Val	COSM684498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31502366A>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu117Lys	rs1466405675	missense variant	-	NC_000010.11:g.31502377G>A	gnomAD
ZEB1	P37275	p.Asn118Tyr	rs747869571	missense variant	-	NC_000010.11:g.31502380A>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu119Lys	rs554520869	missense variant	-	NC_000010.11:g.31502383G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu119Gly	rs777635832	missense variant	-	NC_000010.11:g.31502384A>G	ExAC,gnomAD
ZEB1	P37275	p.His122Asp	rs1461383213	missense variant	-	NC_000010.11:g.31502392C>G	TOPMed
ZEB1	P37275	p.His122Arg	rs749371907	missense variant	-	NC_000010.11:g.31502393A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro124Ser	rs966128994	missense variant	-	NC_000010.11:g.31502398C>T	TOPMed
ZEB1	P37275	p.Pro124Arg	rs771008484	missense variant	-	NC_000010.11:g.31502399C>G	ExAC,gnomAD
ZEB1	P37275	p.Glu128Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31502410G>C	NCI-TCGA
ZEB1	P37275	p.Gln133Glu	rs772364498	missense variant	-	NC_000010.11:g.31502425C>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln133Ter	rs772364498	stop gained	-	NC_000010.11:g.31502425C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp134Asn	COSM3437223	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31502428G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Thr135Ile	rs1479213624	missense variant	-	NC_000010.11:g.31502432C>T	gnomAD
ZEB1	P37275	p.Val137Ile	rs1428046603	missense variant	-	NC_000010.11:g.31502437G>A	gnomAD
ZEB1	P37275	p.Pro140Ser	COSM3437225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31502446C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro140Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31502447C>T	NCI-TCGA
ZEB1	P37275	p.Pro143Leu	rs1346683404	missense variant	-	NC_000010.11:g.31502456C>T	gnomAD
ZEB1	P37275	p.Pro143Ser	rs1276177849	missense variant	-	NC_000010.11:g.31502455C>T	gnomAD
ZEB1	P37275	p.Pro143His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31502456C>A	NCI-TCGA
ZEB1	P37275	p.Gln147Arg	rs1281743768	missense variant	-	NC_000010.11:g.31502468A>G	gnomAD
ZEB1	P37275	p.Arg148Lys	rs777173846	missense variant	-	NC_000010.11:g.31502471G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gly150Ala	rs762410701	missense variant	-	NC_000010.11:g.31502477G>C	ExAC,gnomAD
ZEB1	P37275	p.Thr151Ala	rs202218576	missense variant	-	NC_000010.11:g.31502479A>G	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Pro152Leu	rs985446827	missense variant	-	NC_000010.11:g.31502483C>T	TOPMed,gnomAD
ZEB1	P37275	p.Ser155Ile	rs369587040	missense variant	-	NC_000010.11:g.31502492G>T	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp158Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31502500G>A	NCI-TCGA
ZEB1	P37275	p.Glu159Ala	rs554218294	missense variant	-	NC_000010.11:g.31502504A>C	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu159Gly	rs554218294	missense variant	-	NC_000010.11:g.31502504A>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gly161Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31502509G>T	NCI-TCGA
ZEB1	P37275	p.Ala165Pro	rs1334391538	missense variant	-	NC_000010.11:g.31510684G>C	gnomAD
ZEB1	P37275	p.Phe166Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31510687T>G	NCI-TCGA
ZEB1	P37275	p.Ser167Leu	rs752312798	missense variant	-	NC_000010.11:g.31510691C>T	ExAC,gnomAD
ZEB1	P37275	p.Ser167Ter	COSM6129312	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31510691C>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu169Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31510697T>C	NCI-TCGA
ZEB1	P37275	p.Thr171Ala	rs755967689	missense variant	-	NC_000010.11:g.31510702A>G	ExAC,gnomAD
ZEB1	P37275	p.Arg177Thr	COSM1954951	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510721G>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Gly178Ser	rs1341362800	missense variant	-	NC_000010.11:g.31510723G>A	gnomAD
ZEB1	P37275	p.Thr183Ile	rs1249510328	missense variant	-	NC_000010.11:g.31510739C>T	gnomAD
ZEB1	P37275	p.Leu185Met	COSM6129310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510744C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu187Gln	rs1435892827	missense variant	-	NC_000010.11:g.31510750G>C	gnomAD
ZEB1	P37275	p.Ile189Val	rs1189127426	missense variant	-	NC_000010.11:g.31510756A>G	gnomAD
ZEB1	P37275	p.Lys190Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31510759A>T	NCI-TCGA
ZEB1	P37275	p.Tyr191Cys	rs763939117	missense variant	-	NC_000010.11:g.31510763A>G	ExAC,gnomAD
ZEB1	P37275	p.Arg192His	rs753521729	missense variant	-	NC_000010.11:g.31510766G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu194Gln	COSM3437227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510771G>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu194Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31510771G>A	NCI-TCGA
ZEB1	P37275	p.Lys195Asn	rs778679675	missense variant	-	NC_000010.11:g.31510776G>T	ExAC,gnomAD
ZEB1	P37275	p.Asn196Ser	rs1462914486	missense variant	-	NC_000010.11:g.31510778A>G	gnomAD
ZEB1	P37275	p.Glu197Gly	rs1201102796	missense variant	-	NC_000010.11:g.31510781A>G	TOPMed
ZEB1	P37275	p.Asn199Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31510788C>A	NCI-TCGA
ZEB1	P37275	p.Ser201Cys	rs1394723254	missense variant	-	NC_000010.11:g.31510792A>T	gnomAD
ZEB1	P37275	p.Leu204Val	rs201419824	missense variant	-	NC_000010.11:g.31510801C>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu204Met	rs201419824	missense variant	-	NC_000010.11:g.31510801C>A	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser206Gly	rs549284707	missense variant	-	NC_000010.11:g.31510807A>G	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Phe209Ser	rs1487151044	missense variant	-	NC_000010.11:g.31510817T>C	TOPMed
ZEB1	P37275	p.Ala210Ser	rs781621732	missense variant	-	NC_000010.11:g.31510819G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala210Thr	rs781621732	missense variant	-	NC_000010.11:g.31510819G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala210Val	rs1327135247	missense variant	-	NC_000010.11:g.31510820C>T	gnomAD
ZEB1	P37275	p.Leu215Arg	rs1250709100	missense variant	-	NC_000010.11:g.31510835T>G	gnomAD
ZEB1	P37275	p.Glu216Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31510837G>A	NCI-TCGA
ZEB1	P37275	p.Arg217His	rs771563543	missense variant	-	NC_000010.11:g.31510841G>A	ExAC,gnomAD
ZEB1	P37275	p.Arg217Cys	rs759082087	missense variant	-	NC_000010.11:g.31510840C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Met219Ile	rs775177081	missense variant	-	NC_000010.11:g.31510848G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Thr220Ala	rs1053577312	missense variant	-	NC_000010.11:g.31510849A>G	TOPMed,gnomAD
ZEB1	P37275	p.His222GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.31510856_31510857insG	NCI-TCGA
ZEB1	P37275	p.Gly225Glu	COSM5721480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510865G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Arg226Ser	COSM4013768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510869A>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Asp227His	rs1249297513	missense variant	-	NC_000010.11:g.31510870G>C	gnomAD
ZEB1	P37275	p.Gln228Glu	rs892125653	missense variant	-	NC_000010.11:g.31510873C>G	TOPMed,gnomAD
ZEB1	P37275	p.Thr232Met	rs370082712	missense variant	-	NC_000010.11:g.31514613C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln233Arg	rs774988589	missense variant	-	NC_000010.11:g.31514616A>G	ExAC,gnomAD
ZEB1	P37275	p.Cys236Tyr	rs1194974092	missense variant	-	NC_000010.11:g.31514625G>A	TOPMed
ZEB1	P37275	p.Cys236Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31514625G>T	NCI-TCGA
ZEB1	P37275	p.Arg238His	rs1393017108	missense variant	-	NC_000010.11:g.31514631G>A	gnomAD
ZEB1	P37275	p.Phe240Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31514638C>A	NCI-TCGA
ZEB1	P37275	p.Lys241Arg	rs1303709274	missense variant	-	NC_000010.11:g.31514640A>G	TOPMed,gnomAD
ZEB1	P37275	p.Lys241Glu	rs1406648850	missense variant	-	NC_000010.11:g.31514639A>G	gnomAD
ZEB1	P37275	p.Gly246Ala	rs1266824931	missense variant	-	NC_000010.11:g.31514655G>C	TOPMed
ZEB1	P37275	p.Lys247Ter	COSM3437234	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31514657A>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Ala248Val	rs1308963462	missense variant	-	NC_000010.11:g.31514661C>T	gnomAD
ZEB1	P37275	p.Ile261Val	rs1490703690	missense variant	-	NC_000010.11:g.31514699A>G	gnomAD
ZEB1	P37275	p.Pro267Gln	COSM6065856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520135C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Cys270Tyr	COSM917694	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520144G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Lys274IleTer	rs1403497398	stop gained	-	NC_000010.11:g.31520155_31520156insTTT	gnomAD
ZEB1	P37275	p.Arg276Cys	rs1172473243	missense variant	-	NC_000010.11:g.31520161C>T	TOPMed,gnomAD
ZEB1	P37275	p.His279Tyr	COSM228131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520170C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Ser282Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520180C>T	NCI-TCGA
ZEB1	P37275	p.Tyr283His	COSM684495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520182T>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Ile287Val	rs769431660	missense variant	-	NC_000010.11:g.31520194A>G	ExAC,gnomAD
ZEB1	P37275	p.Lys290Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520205G>C	NCI-TCGA
ZEB1	P37275	p.Ile293Val	rs1379977561	missense variant	-	NC_000010.11:g.31520212A>G	gnomAD
ZEB1	P37275	p.Ser294Asn	rs370663355	missense variant	-	NC_000010.11:g.31520216G>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser294Arg	rs766468773	missense variant	-	NC_000010.11:g.31520217C>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Val298Glu	rs774395615	missense variant	-	NC_000010.11:g.31520228T>A	ExAC,gnomAD
ZEB1	P37275	p.Val298Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520228T>C	NCI-TCGA
ZEB1	P37275	p.Asn299Ser	rs1265452075	missense variant	-	NC_000010.11:g.31520231A>G	gnomAD
ZEB1	P37275	p.Arg301Ter	rs1263636689	stop gained	-	NC_000010.11:g.31520236C>T	TOPMed
ZEB1	P37275	p.Arg301Gln	rs767479492	missense variant	-	NC_000010.11:g.31520237G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro302Ser	rs752761658	missense variant	-	NC_000010.11:g.31520239C>T	ExAC,gnomAD
ZEB1	P37275	p.Pro302Arg	rs1476441129	missense variant	-	NC_000010.11:g.31520240C>G	gnomAD
ZEB1	P37275	p.Arg303Gly	rs549453449	missense variant	-	NC_000010.11:g.31520242A>G	1000Genomes,TOPMed
ZEB1	P37275	p.Gly305Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31520248G>T	NCI-TCGA
ZEB1	P37275	p.Thr308Ala	rs1188131832	missense variant	-	NC_000010.11:g.31520257A>G	gnomAD
ZEB1	P37275	p.Thr308Ser	rs1188131832	missense variant	-	NC_000010.11:g.31520257A>T	gnomAD
ZEB1	P37275	p.Thr308Ile	COSM73353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520258C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Cys311Tyr	rs1307881589	missense variant	-	NC_000010.11:g.31520267G>A	TOPMed
ZEB1	P37275	p.Cys311Trp	rs756298280	missense variant	-	NC_000010.11:g.31520268T>G	ExAC,gnomAD
ZEB1	P37275	p.Pro314Leu	rs764263722	missense variant	-	NC_000010.11:g.31520276C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro314Ser	COSM3437237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520275C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu316Arg	COSM917696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520282T>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Ser317Leu	rs779437491	missense variant	-	NC_000010.11:g.31520285C>T	ExAC,gnomAD
ZEB1	P37275	p.Ser317Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31520285C>A	NCI-TCGA
ZEB1	P37275	p.Ala318Gly	rs1449570641	missense variant	-	NC_000010.11:g.31520288C>G	TOPMed,gnomAD
ZEB1	P37275	p.Pro320Ser	rs371970352	missense variant	-	NC_000010.11:g.31520293C>T	TOPMed
ZEB1	P37275	p.Pro320Ala	rs371970352	missense variant	-	NC_000010.11:g.31520293C>G	TOPMed
ZEB1	P37275	p.Pro320Arg	COSM3437239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520294C>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro323Leu	COSM3437241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520303C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Thr324Ala	rs1270335704	missense variant	-	NC_000010.11:g.31520305A>G	gnomAD
ZEB1	P37275	p.Arg325Gln	rs866987044	missense variant	-	NC_000010.11:g.31520309G>A	TOPMed,gnomAD
ZEB1	P37275	p.Arg325Ter	rs1057518956	stop gained	-	NC_000010.11:g.31520308C>T	-
ZEB1	P37275	p.Arg325Ter	RCV000599440	nonsense	-	NC_000010.11:g.31520308C>T	ClinVar
ZEB1	P37275	p.Arg325Ter	RCV000415113	nonsense	Glaucoma	NC_000010.11:g.31520308C>T	ClinVar
ZEB1	P37275	p.Arg329Gln	rs1285547057	missense variant	-	NC_000010.11:g.31520321G>A	gnomAD
ZEB1	P37275	p.Arg329Trp	rs754576407	missense variant	-	NC_000010.11:g.31520320C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys331Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520327A>G	NCI-TCGA
ZEB1	P37275	p.Lys331Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520328G>T	NCI-TCGA
ZEB1	P37275	p.Lys331Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520328G>C	NCI-TCGA
ZEB1	P37275	p.Ile332Thr	rs747652843	missense variant	-	NC_000010.11:g.31520330T>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ile332Met	rs1471392809	missense variant	-	NC_000010.11:g.31520331A>G	TOPMed
ZEB1	P37275	p.Glu333Lys	rs769590621	missense variant	-	NC_000010.11:g.31520332G>A	ExAC,gnomAD
ZEB1	P37275	p.Glu333Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520332G>C	NCI-TCGA
ZEB1	P37275	p.Asn334His	rs1449025160	missense variant	-	NC_000010.11:g.31520335A>C	TOPMed,gnomAD
ZEB1	P37275	p.Asn334Ser	rs1199819193	missense variant	-	NC_000010.11:g.31520336A>G	TOPMed
ZEB1	P37275	p.Asn334Tyr	rs1449025160	missense variant	-	NC_000010.11:g.31520335A>T	TOPMed,gnomAD
ZEB1	P37275	p.Lys335Arg	rs772976560	missense variant	-	NC_000010.11:g.31520339A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys335Asn	rs749135192	missense variant	-	NC_000010.11:g.31520340A>T	ExAC,gnomAD
ZEB1	P37275	p.Pro336Thr	rs770841439	missense variant	-	NC_000010.11:g.31520341C>A	ExAC,gnomAD
ZEB1	P37275	p.Pro336Leu	rs1191462227	missense variant	-	NC_000010.11:g.31520342C>T	gnomAD
ZEB1	P37275	p.Leu337Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520344C>A	NCI-TCGA
ZEB1	P37275	p.Gln338Lys	rs1431090090	missense variant	-	NC_000010.11:g.31520347C>A	gnomAD
ZEB1	P37275	p.Gln338Ter	COSM3437243	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31520347C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu339Ala	rs1265097124	missense variant	-	NC_000010.11:g.31520351A>C	TOPMed
ZEB1	P37275	p.Glu339Gln	COSM1347597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520350G>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Gln340Ter	COSM5487192	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31520353C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu341Phe	rs1010332535	missense variant	-	NC_000010.11:g.31520356C>T	TOPMed
ZEB1	P37275	p.Gln345Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520369A>T	NCI-TCGA
ZEB1	P37275	p.Ile346Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520371A>G	NCI-TCGA
ZEB1	P37275	p.Thr348Ile	rs1261366908	missense variant	-	NC_000010.11:g.31520378C>T	TOPMed
ZEB1	P37275	p.Glu349Gln	rs774485268	missense variant	-	NC_000010.11:g.31520380G>C	ExAC,gnomAD
ZEB1	P37275	p.Pro350Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520384C>T	NCI-TCGA
ZEB1	P37275	p.Val351Ala	rs767419782	missense variant	-	NC_000010.11:g.31520387T>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Val351Met	rs367672138	missense variant	-	NC_000010.11:g.31520386G>A	ESP,TOPMed,gnomAD
ZEB1	P37275	p.Val351Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520387T>A	NCI-TCGA
ZEB1	P37275	p.Val351Leu	rs367672138	missense variant	-	NC_000010.11:g.31520386G>C	ESP,TOPMed,gnomAD
ZEB1	P37275	p.Asp352Tyr	rs1318380470	missense variant	-	NC_000010.11:g.31520389G>T	gnomAD
ZEB1	P37275	p.Asp352Asn	rs1318380470	missense variant	-	NC_000010.11:g.31520389G>A	gnomAD
ZEB1	P37275	p.Asp352Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520390A>T	NCI-TCGA
ZEB1	P37275	p.Tyr353Phe	rs148310638	missense variant	-	NC_000010.11:g.31520393A>T	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ile358Arg	rs764352027	missense variant	-	NC_000010.11:g.31520408T>G	ExAC,gnomAD
ZEB1	P37275	p.Ile358Val	rs760761758	missense variant	-	NC_000010.11:g.31520407A>G	ExAC,gnomAD
ZEB1	P37275	p.Ile358Thr	rs764352027	missense variant	-	NC_000010.11:g.31520408T>C	ExAC,gnomAD
ZEB1	P37275	p.Val359Leu	rs1346473581	missense variant	-	NC_000010.11:g.31520410G>C	gnomAD
ZEB1	P37275	p.Val360Leu	rs1223279175	missense variant	-	NC_000010.11:g.31520413G>C	gnomAD
ZEB1	P37275	p.Ala361Ser	rs192544989	missense variant	-	NC_000010.11:g.31520416G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala361Asp	COSM917698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520417C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Asn365Lys	COSM917699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520430C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Asn365Ser	rs1353090060	missense variant	-	NC_000010.11:g.31520429A>G	gnomAD
ZEB1	P37275	p.Cys366Arg	rs750743692	missense variant	-	NC_000010.11:g.31520431T>C	ExAC,gnomAD
ZEB1	P37275	p.Cys366Ser	rs754854286	missense variant	-	NC_000010.11:g.31520432G>C	-
ZEB1	P37275	p.Thr368Ala	rs1034554729	missense variant	-	NC_000010.11:g.31520437A>G	gnomAD
ZEB1	P37275	p.Pro369Ala	rs758835880	missense variant	-	NC_000010.11:g.31520440C>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro369Leu	COSM3437247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520441C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro369Ser	COSM3437245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520440C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Gln371Lys	rs1270963765	missense variant	-	NC_000010.11:g.31520446C>A	gnomAD
ZEB1	P37275	p.Asn372Thr	rs780560004	missense variant	-	NC_000010.11:g.31520450A>C	ExAC,gnomAD
ZEB1	P37275	p.Gly373Arg	rs1198402275	missense variant	-	NC_000010.11:g.31520452G>A	gnomAD
ZEB1	P37275	p.Val374Phe	rs1244811804	missense variant	-	NC_000010.11:g.31520455G>T	gnomAD
ZEB1	P37275	p.Phe375Leu	rs752196975	missense variant	-	NC_000010.11:g.31520458T>C	ExAC,gnomAD
ZEB1	P37275	p.Gly377Ala	rs747913512	missense variant	-	NC_000010.11:g.31520465G>C	TOPMed
ZEB1	P37275	p.Gly377Asp	rs747913512	missense variant	-	NC_000010.11:g.31520465G>A	TOPMed
ZEB1	P37275	p.Ala383Ser	rs142232415	missense variant	-	NC_000010.11:g.31520482G>T	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Thr384Ile	rs1176715857	missense variant	-	NC_000010.11:g.31520486C>T	TOPMed
ZEB1	P37275	p.Ser385Gly	rs777635230	missense variant	-	NC_000010.11:g.31520488A>G	ExAC,gnomAD
ZEB1	P37275	p.Ser386Phe	rs748931923	missense variant	-	NC_000010.11:g.31520492C>T	ExAC,gnomAD
ZEB1	P37275	p.Gly389Asp	rs1435864623	missense variant	-	NC_000010.11:g.31520501G>A	TOPMed,gnomAD
ZEB1	P37275	p.Met390Ile	COSM6065853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520505G>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Val391Met	rs770647265	missense variant	-	NC_000010.11:g.31520506G>A	ExAC,TOPMed
ZEB1	P37275	p.Gln392Lys	rs1429021087	missense variant	-	NC_000010.11:g.31520509C>A	TOPMed
ZEB1	P37275	p.Ala393Thr	rs778575337	missense variant	-	NC_000010.11:g.31520512G>A	ExAC,gnomAD
ZEB1	P37275	p.Val395Gly	rs1021748597	missense variant	-	NC_000010.11:g.31520519T>G	TOPMed
ZEB1	P37275	p.Val395Leu	rs1404935644	missense variant	-	NC_000010.11:g.31520518G>C	gnomAD
ZEB1	P37275	p.Thr398Ala	rs771929681	missense variant	-	NC_000010.11:g.31520527A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gly400ValPheSerTerUnk	COSM300929	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31520533G>-	NCI-TCGA Cosmic
ZEB1	P37275	p.Gly400Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520534G>T	NCI-TCGA
ZEB1	P37275	p.Val402Leu	rs371431986	missense variant	-	NC_000010.11:g.31520539G>C	ESP,ExAC,gnomAD
ZEB1	P37275	p.Ser403Thr	rs1351511587	missense variant	-	NC_000010.11:g.31520542T>A	gnomAD
ZEB1	P37275	p.Ile405Val	rs146384341	missense variant	-	NC_000010.11:g.31520548A>G	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ile405Met	COSM4393133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520550A>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Asp411Asn	rs776898213	missense variant	-	NC_000010.11:g.31520566G>A	ExAC,gnomAD
ZEB1	P37275	p.Asn414His	rs762037555	missense variant	-	NC_000010.11:g.31520575A>C	ExAC,gnomAD
ZEB1	P37275	p.Asn414Ser	rs138491446	missense variant	-	NC_000010.11:g.31520576A>G	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu416Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520581C>A	NCI-TCGA
ZEB1	P37275	p.Lys417Glu	rs145576217	missense variant	-	NC_000010.11:g.31520584A>G	1000Genomes
ZEB1	P37275	p.Ala419Val	rs750773172	missense variant	-	NC_000010.11:g.31520591C>T	ExAC,gnomAD
ZEB1	P37275	p.Val420Leu	rs1437500395	missense variant	-	NC_000010.11:g.31520593G>T	gnomAD
ZEB1	P37275	p.Gly422Cys	rs201283071	missense variant	-	NC_000010.11:g.31520599G>T	ExAC
ZEB1	P37275	p.Gly422Arg	rs201283071	missense variant	-	NC_000010.11:g.31520599G>C	ExAC
ZEB1	P37275	p.Asn423Asp	rs752101790	missense variant	-	NC_000010.11:g.31520602A>G	ExAC,gnomAD
ZEB1	P37275	p.Asn423Tyr	rs752101790	missense variant	-	NC_000010.11:g.31520602A>T	ExAC,gnomAD
ZEB1	P37275	p.Asn423Ser	COSM917700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520603A>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Val424Ala	rs1385362551	missense variant	-	NC_000010.11:g.31520606T>C	gnomAD
ZEB1	P37275	p.Arg426Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520613G>T	NCI-TCGA
ZEB1	P37275	p.Glu430Asp	rs755739832	missense variant	-	NC_000010.11:g.31520625G>C	ExAC,gnomAD
ZEB1	P37275	p.Glu430Val	COSM684494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520624A>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu430Asp	COSM917701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520625G>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Asn431Asp	rs1399007467	missense variant	-	NC_000010.11:g.31520626A>G	gnomAD
ZEB1	P37275	p.Gln433Lys	rs1410880880	missense variant	-	NC_000010.11:g.31520632C>A	gnomAD
ZEB1	P37275	p.Gln433Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31520632C>T	NCI-TCGA
ZEB1	P37275	p.Ala434Val	rs955506837	missense variant	-	NC_000010.11:g.31520636C>T	TOPMed
ZEB1	P37275	p.Asn435Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520640T>G	NCI-TCGA
ZEB1	P37275	p.Leu436Val	rs777431447	missense variant	-	NC_000010.11:g.31520641C>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu436Ile	rs777431447	missense variant	-	NC_000010.11:g.31520641C>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser438Phe	rs148867206	missense variant	-	NC_000010.11:g.31520648C>T	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Lys439Arg	rs1432181026	missense variant	-	NC_000010.11:g.31520651A>G	TOPMed
ZEB1	P37275	p.Glu440Lys	COSM684493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520653G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Thr443Ser	rs150669496	missense variant	-	NC_000010.11:g.31520662A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ile444Val	rs745702294	missense variant	-	NC_000010.11:g.31520665A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ile444Ter	RCV000598751	frameshift	-	NC_000010.11:g.31520663_31520666CAAT[1]	ClinVar
ZEB1	P37275	p.Asn445Ser	rs771873166	missense variant	-	NC_000010.11:g.31520669A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro448Arg	rs746935944	missense variant	-	NC_000010.11:g.31520678C>G	ExAC,gnomAD
ZEB1	P37275	p.Pro448Ser	rs779926193	missense variant	-	NC_000010.11:g.31520677C>T	ExAC,gnomAD
ZEB1	P37275	p.Gln451Pro	rs1257244462	missense variant	-	NC_000010.11:g.31520687A>C	TOPMed,gnomAD
ZEB1	P37275	p.Gly452Asp	rs1206386071	missense variant	-	NC_000010.11:g.31520690G>A	gnomAD
ZEB1	P37275	p.Gly453Cys	rs776697635	missense variant	-	NC_000010.11:g.31520692G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gly453Asp	rs761843265	missense variant	-	NC_000010.11:g.31520693G>A	ExAC,gnomAD
ZEB1	P37275	p.His454Arg	rs769956968	missense variant	-	NC_000010.11:g.31520696A>G	ExAC,gnomAD
ZEB1	P37275	p.His454Gln	rs1443499938	missense variant	-	NC_000010.11:g.31520697T>A	gnomAD
ZEB1	P37275	p.Val456Leu	rs1389414121	missense variant	-	NC_000010.11:g.31520701G>C	TOPMed
ZEB1	P37275	p.Ile460Val	rs1375278097	missense variant	-	NC_000010.11:g.31520713A>G	gnomAD
ZEB1	P37275	p.Ser461Gly	rs1476058862	missense variant	-	NC_000010.11:g.31520716A>G	gnomAD
ZEB1	P37275	p.Pro463Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520722C>A	NCI-TCGA
ZEB1	P37275	p.Leu464Val	rs554451856	missense variant	-	NC_000010.11:g.31520725T>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp466Gly	rs763293518	missense variant	-	NC_000010.11:g.31520732A>G	ExAC,gnomAD
ZEB1	P37275	p.Ile474Thr	rs199595565	missense variant	-	NC_000010.11:g.31520756T>C	ExAC,gnomAD
ZEB1	P37275	p.Ile475Val	rs774794245	missense variant	-	NC_000010.11:g.31520758A>G	ExAC,gnomAD
ZEB1	P37275	p.Ile475Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520759T>A	NCI-TCGA
ZEB1	P37275	p.Asn476Ser	rs760121402	missense variant	-	NC_000010.11:g.31520762A>G	ExAC,gnomAD
ZEB1	P37275	p.Tyr477Cys	rs1297891888	missense variant	-	NC_000010.11:g.31520765A>G	gnomAD
ZEB1	P37275	p.Ser478Asn	COSM4929637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520768G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu479Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520770C>A	NCI-TCGA
ZEB1	P37275	p.Glu480Gln	rs374398055	missense variant	-	NC_000010.11:g.31520773G>C	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu480Lys	rs374398055	missense variant	-	NC_000010.11:g.31520773G>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln481Pro	rs753424362	missense variant	-	NC_000010.11:g.31520777A>C	ExAC,gnomAD
ZEB1	P37275	p.Gln484His	rs1277291486	missense variant	-	NC_000010.11:g.31520787A>C	gnomAD
ZEB1	P37275	p.Leu485His	COSM684492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520789T>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu485Ile	rs1315865678	missense variant	-	NC_000010.11:g.31520788C>A	TOPMed,gnomAD
ZEB1	P37275	p.Gln486His	rs1263373946	missense variant	-	NC_000010.11:g.31520793A>C	TOPMed,gnomAD
ZEB1	P37275	p.Gln486Glu	rs575804925	missense variant	-	NC_000010.11:g.31520791C>G	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Gln486Arg	rs984474944	missense variant	-	NC_000010.11:g.31520792A>G	TOPMed,gnomAD
ZEB1	P37275	p.Val488Phe	rs945716050	missense variant	-	NC_000010.11:g.31520797G>T	TOPMed
ZEB1	P37275	p.Val488Ile	rs945716050	missense variant	-	NC_000010.11:g.31520797G>A	TOPMed
ZEB1	P37275	p.Asn491Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520807A>T	NCI-TCGA
ZEB1	P37275	p.Leu492Phe	rs1041806538	missense variant	-	NC_000010.11:g.31520811A>T	TOPMed
ZEB1	P37275	p.Lys493Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520813A>G	NCI-TCGA
ZEB1	P37275	p.Glu495Ter	rs764841328	stop gained	-	NC_000010.11:g.31520818G>T	ExAC,gnomAD
ZEB1	P37275	p.Val498Ala	rs750089468	missense variant	-	NC_000010.11:g.31520828T>C	ExAC,gnomAD
ZEB1	P37275	p.Val498Ile	rs1263280380	missense variant	-	NC_000010.11:g.31520827G>A	TOPMed,gnomAD
ZEB1	P37275	p.Ala499Thr	rs139511659	missense variant	-	NC_000010.11:g.31520830G>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Thr500Ala	rs1481630869	missense variant	-	NC_000010.11:g.31520833A>G	gnomAD
ZEB1	P37275	p.Thr500Lys	rs754941595	missense variant	-	NC_000010.11:g.31520834C>A	ExAC,gnomAD
ZEB1	P37275	p.Ser502Gly	rs1428844009	missense variant	-	NC_000010.11:g.31520839A>G	gnomAD
ZEB1	P37275	p.Ser502Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520841T>G	NCI-TCGA
ZEB1	P37275	p.Lys504Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520845A>C	NCI-TCGA
ZEB1	P37275	p.Ser505Asn	rs1464777836	missense variant	-	NC_000010.11:g.31520849G>A	gnomAD
ZEB1	P37275	p.Ser505Gly	COSM4013777	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520848A>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu506Ala	rs781083816	missense variant	-	NC_000010.11:g.31520852A>C	ExAC,gnomAD
ZEB1	P37275	p.Leu508Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520858T>C	NCI-TCGA
ZEB1	P37275	p.Pro509Leu	rs149705490	missense variant	-	NC_000010.11:g.31520861C>T	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu510Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520863G>A	NCI-TCGA
ZEB1	P37275	p.Asp511Glu	rs774884156	missense variant	-	NC_000010.11:g.31520868T>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp511Tyr	rs770987854	missense variant	-	NC_000010.11:g.31520866G>T	ExAC,gnomAD
ZEB1	P37275	p.Thr513Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520872A>G	NCI-TCGA
ZEB1	P37275	p.Val514Gly	rs1369708005	missense variant	-	NC_000010.11:g.31520876T>G	TOPMed
ZEB1	P37275	p.Lys515Gln	COSM6065849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520878A>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Ser516Cys	rs1306014711	missense variant	-	NC_000010.11:g.31520882C>G	TOPMed
ZEB1	P37275	p.Glu517Asp	rs1311225653	missense variant	-	NC_000010.11:g.31520886G>C	gnomAD
ZEB1	P37275	p.Glu517Ala	COSM4013779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520885A>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Asp519Asn	rs1230655535	missense variant	-	NC_000010.11:g.31520890G>A	gnomAD
ZEB1	P37275	p.Asp519Glu	rs759928999	missense variant	-	NC_000010.11:g.31520892C>A	ExAC
ZEB1	P37275	p.Asp519Gly	COSM4013781	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520891A>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Lys520Asn	COSM684491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520895A>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Ser521Ile	rs768190425	missense variant	-	NC_000010.11:g.31520897G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser521Arg	rs564773864	missense variant	-	NC_000010.11:g.31520898C>A	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu523Lys	rs1472522029	missense variant	-	NC_000010.11:g.31520902G>A	TOPMed
ZEB1	P37275	p.Glu523Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520902G>C	NCI-TCGA
ZEB1	P37275	p.Gly524Arg	rs761300546	missense variant	-	NC_000010.11:g.31520905G>A	ExAC,gnomAD
ZEB1	P37275	p.Gly524Val	rs1006411389	missense variant	-	NC_000010.11:g.31520906G>T	TOPMed
ZEB1	P37275	p.Gly524Ala	rs1006411389	missense variant	-	NC_000010.11:g.31520906G>C	TOPMed
ZEB1	P37275	p.Gly524Trp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520905G>T	NCI-TCGA
ZEB1	P37275	p.Gly525Glu	VAR_072897	Missense	-	-	UniProt
ZEB1	P37275	p.Val526Met	rs764794801	missense variant	-	NC_000010.11:g.31520911G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Val526Leu	rs764794801	missense variant	-	NC_000010.11:g.31520911G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Val526GlyPheSerTerUnk	rs766305306	frameshift	-	NC_000010.11:g.31520904_31520905insG	NCI-TCGA,NCI-TCGA Cosmic
ZEB1	P37275	p.Val526Ter	NCI-TCGA novel	frameshift	-	NC_000010.11:g.31520905G>-	NCI-TCGA
ZEB1	P37275	p.Val526Ter	RCV000499953	frameshift	Corneal dystrophy	NC_000010.11:g.31520911dup	ClinVar
ZEB1	P37275	p.Asp528Gly	rs1203505833	missense variant	-	NC_000010.11:g.31520918A>G	TOPMed
ZEB1	P37275	p.Leu532Ile	COSM917704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520929C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu533Val	rs749845204	missense variant	-	NC_000010.11:g.31520932C>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu533Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520932C>A	NCI-TCGA
ZEB1	P37275	p.Asp536Tyr	rs368461324	missense variant	-	NC_000010.11:g.31520941G>T	ESP,ExAC,TOPMed
ZEB1	P37275	p.Cys537Tyr	rs578033653	missense variant	-	NC_000010.11:g.31520945G>A	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro538Arg	rs751379750	missense variant	-	NC_000010.11:g.31520948C>G	ExAC,gnomAD
ZEB1	P37275	p.Asp540His	rs1453156677	missense variant	-	NC_000010.11:g.31520953G>C	gnomAD
ZEB1	P37275	p.Ile541Val	rs1156996352	missense variant	-	NC_000010.11:g.31520956A>G	gnomAD
ZEB1	P37275	p.Asn542Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520960A>G	NCI-TCGA
ZEB1	P37275	p.Pro545Thr	rs545220935	missense variant	-	NC_000010.11:g.31520968C>A	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Glu546Asp	rs1406745202	missense variant	-	NC_000010.11:g.31520973A>C	gnomAD
ZEB1	P37275	p.Leu547Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31520975T>C	NCI-TCGA
ZEB1	P37275	p.Tyr550Cys	rs781172285	missense variant	-	NC_000010.11:g.31520984A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys553Arg	rs35753967	missense variant	-	NC_000010.11:g.31520993A>G	UniProt,dbSNP
ZEB1	P37275	p.Lys553Arg	VAR_031824	missense variant	-	NC_000010.11:g.31520993A>G	UniProt
ZEB1	P37275	p.Lys553Arg	rs35753967	missense variant	-	NC_000010.11:g.31520993A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln554His	rs755946563	missense variant	-	NC_000010.11:g.31520997G>T	ExAC,gnomAD
ZEB1	P37275	p.Gln557Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521004C>A	NCI-TCGA
ZEB1	P37275	p.Pro558Leu	rs1335764562	missense variant	-	NC_000010.11:g.31521008C>T	gnomAD
ZEB1	P37275	p.Pro558Ser	rs777909610	missense variant	-	NC_000010.11:g.31521007C>T	ExAC,gnomAD
ZEB1	P37275	p.Pro559Ser	rs1283323958	missense variant	-	NC_000010.11:g.31521010C>T	gnomAD
ZEB1	P37275	p.Pro562Ser	rs749284797	missense variant	-	NC_000010.11:g.31521019C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro562Leu	rs140611114	missense variant	-	NC_000010.11:g.31521020C>T	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala563Glu	rs774695750	missense variant	-	NC_000010.11:g.31521023C>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala563Val	rs774695750	missense variant	-	NC_000010.11:g.31521023C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu565Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31521028G>T	NCI-TCGA
ZEB1	P37275	p.Lys568Glu	rs776201320	missense variant	-	NC_000010.11:g.31521037A>G	ExAC
ZEB1	P37275	p.Lys568Asn	rs184880161	missense variant	-	NC_000010.11:g.31521039G>T	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro569Leu	rs1439376664	missense variant	-	NC_000010.11:g.31521041C>T	gnomAD
ZEB1	P37275	p.Pro569Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521040C>G	NCI-TCGA
ZEB1	P37275	p.Ser572Cys	rs1400161566	missense variant	-	NC_000010.11:g.31521050C>G	TOPMed,gnomAD
ZEB1	P37275	p.Ser574Thr	rs762322730	missense variant	-	NC_000010.11:g.31521055T>A	ExAC,gnomAD
ZEB1	P37275	p.Ala576Thr	rs1426425871	missense variant	-	NC_000010.11:g.31521061G>A	gnomAD
ZEB1	P37275	p.Thr577Ala	rs1411548182	missense variant	-	NC_000010.11:g.31521064A>G	TOPMed
ZEB1	P37275	p.Thr577Ile	rs766058439	missense variant	-	NC_000010.11:g.31521065C>T	ExAC,gnomAD
ZEB1	P37275	p.Asp579His	rs1022105607	missense variant	-	NC_000010.11:g.31521070G>C	TOPMed
ZEB1	P37275	p.Gly580Asp	rs1221464692	missense variant	-	NC_000010.11:g.31521074G>A	TOPMed
ZEB1	P37275	p.Asn581Tyr	rs1456202829	missense variant	-	NC_000010.11:g.31521076A>T	TOPMed,gnomAD
ZEB1	P37275	p.Asn581Ser	rs759380424	missense variant	-	NC_000010.11:g.31521077A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu582Val	rs143542961	missense variant	-	NC_000010.11:g.31521079T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser583Phe	rs1306407600	missense variant	-	NC_000010.11:g.31521083C>T	TOPMed,gnomAD
ZEB1	P37275	p.Ser583Ala	rs752368614	missense variant	-	NC_000010.11:g.31521082T>G	ExAC,gnomAD
ZEB1	P37275	p.Ser583PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.31521083C>-	NCI-TCGA
ZEB1	P37275	p.Ser583Tyr	rs1306407600	missense variant	-	NC_000010.11:g.31521083C>A	TOPMed,gnomAD
ZEB1	P37275	p.Ser585Thr	rs756107761	missense variant	-	NC_000010.11:g.31521089G>C	ExAC,gnomAD
ZEB1	P37275	p.Gln586Arg	rs1226913869	missense variant	-	NC_000010.11:g.31521092A>G	TOPMed,gnomAD
ZEB1	P37275	p.Pro587Leu	rs999379567	missense variant	-	NC_000010.11:g.31521095C>T	TOPMed,gnomAD
ZEB1	P37275	p.Pro588His	rs561587775	missense variant	-	NC_000010.11:g.31521098C>A	1000Genomes
ZEB1	P37275	p.Asn591Tyr	COSM1702235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521106A>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu592Pro	rs375798509	missense variant	-	NC_000010.11:g.31521110T>C	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu593Met	COSM1470276	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521112T>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu593Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521112T>G	NCI-TCGA
ZEB1	P37275	p.Ser594Cys	rs1252311122	missense variant	-	NC_000010.11:g.31521116C>G	TOPMed,gnomAD
ZEB1	P37275	p.Ser594Phe	rs1252311122	missense variant	-	NC_000010.11:g.31521116C>T	TOPMed,gnomAD
ZEB1	P37275	p.Ser594Tyr	COSM917705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521116C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu595Phe	rs1457462399	missense variant	-	NC_000010.11:g.31521118C>T	gnomAD
ZEB1	P37275	p.Ala598Thr	rs531904879	missense variant	-	NC_000010.11:g.31521127G>A	1000Genomes
ZEB1	P37275	p.Tyr600Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31521135T>G	NCI-TCGA
ZEB1	P37275	p.Pro606Leu	rs1222596416	missense variant	-	NC_000010.11:g.31521152C>T	TOPMed,gnomAD
ZEB1	P37275	p.Ser607Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521154A>G	NCI-TCGA
ZEB1	P37275	p.Glu610Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521163G>A	NCI-TCGA
ZEB1	P37275	p.Ser612Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521170C>T	NCI-TCGA
ZEB1	P37275	p.Lys613Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521172A>C	NCI-TCGA
ZEB1	P37275	p.Ile614Thr	rs746075441	missense variant	-	NC_000010.11:g.31521176T>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala615Gly	rs373879318	missense variant	-	NC_000010.11:g.31521179C>G	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp616Gly	rs747300107	missense variant	-	NC_000010.11:g.31521182A>G	ExAC,gnomAD
ZEB1	P37275	p.Leu622Gln	rs762587574	missense variant	-	NC_000010.11:g.31521200T>A	ExAC,gnomAD
ZEB1	P37275	p.Leu622Pro	rs762587574	missense variant	-	NC_000010.11:g.31521200T>C	ExAC,gnomAD
ZEB1	P37275	p.Asp623Asn	rs1328886562	missense variant	-	NC_000010.11:g.31521202G>A	gnomAD
ZEB1	P37275	p.Val624Ile	rs1200921855	missense variant	-	NC_000010.11:g.31521205G>A	gnomAD
ZEB1	P37275	p.Lys627SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.31521210A>-	NCI-TCGA
ZEB1	P37275	p.Trp628ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.31521209_31521210insA	NCI-TCGA
ZEB1	P37275	p.Phe629Val	rs1482060417	missense variant	-	NC_000010.11:g.31521220T>G	gnomAD
ZEB1	P37275	p.Met632Thr	rs952856031	missense variant	-	NC_000010.11:g.31521230T>C	TOPMed
ZEB1	P37275	p.Gly635Arg	rs151017318	missense variant	-	NC_000010.11:g.31521238G>A	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Gln636His	rs1296690351	missense variant	-	NC_000010.11:g.31521243G>T	TOPMed,gnomAD
ZEB1	P37275	p.Ile637Met	rs760363135	missense variant	-	NC_000010.11:g.31521246T>G	ExAC,gnomAD
ZEB1	P37275	p.Ser638Leu	COSM40680	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521248C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Val639Met	rs764134185	missense variant	-	NC_000010.11:g.31521250G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Val639Ala	rs757471555	missense variant	-	NC_000010.11:g.31521251T>C	ExAC,gnomAD
ZEB1	P37275	p.Val639Leu	rs764134185	missense variant	-	NC_000010.11:g.31521250G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln640His	rs779148597	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521255G>T	UniProt,dbSNP
ZEB1	P37275	p.Gln640His	VAR_072898	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521255G>T	UniProt
ZEB1	P37275	p.Gln640His	rs779148597	missense variant	-	NC_000010.11:g.31521255G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser641Phe	rs750468738	missense variant	-	NC_000010.11:g.31521257C>T	ExAC,gnomAD
ZEB1	P37275	p.Ser642Cys	rs1482211759	missense variant	-	NC_000010.11:g.31521260C>G	gnomAD
ZEB1	P37275	p.Ser645Pro	rs961815962	missense variant	-	NC_000010.11:g.31521268T>C	TOPMed,gnomAD
ZEB1	P37275	p.Ser646Tyr	COSM4839840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521272C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Ser646Phe	COSM3437254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521272C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro647Ser	rs780092874	missense variant	-	NC_000010.11:g.31521274C>T	ExAC,gnomAD
ZEB1	P37275	p.Glu648Gln	rs571773412	missense variant	-	NC_000010.11:g.31521277G>C	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Glu648Gly	rs768896481	missense variant	-	NC_000010.11:g.31521278A>G	ExAC,gnomAD
ZEB1	P37275	p.Pro649Arg	rs370211218	missense variant	-	NC_000010.11:g.31521281C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro649Leu	rs370211218	missense variant	-	NC_000010.11:g.31521281C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro649Ala	rs781750314	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521280C>G	UniProt,dbSNP
ZEB1	P37275	p.Pro649Ala	VAR_063760	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521280C>G	UniProt
ZEB1	P37275	p.Pro649Ala	rs781750314	missense variant	-	NC_000010.11:g.31521280C>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro649Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521280C>T	NCI-TCGA
ZEB1	P37275	p.Lys651Glu	rs1340216988	missense variant	-	NC_000010.11:g.31521286A>G	gnomAD
ZEB1	P37275	p.Ile654Thr	rs745332479	missense variant	-	NC_000010.11:g.31521296T>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys657Glu	rs774973367	missense variant	-	NC_000010.11:g.31521304A>G	ExAC,gnomAD
ZEB1	P37275	p.Asn658Lys	rs151205909	missense variant	-	NC_000010.11:g.31521309C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asn659His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521310A>C	NCI-TCGA
ZEB1	P37275	p.Asp660Gly	rs150228807	missense variant	-	NC_000010.11:g.31521314A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro662Arg	rs1263806535	missense variant	-	NC_000010.11:g.31521320C>G	gnomAD
ZEB1	P37275	p.Ser664Tyr	rs141110915	missense variant	-	NC_000010.11:g.31521326C>A	1000Genomes
ZEB1	P37275	p.Ala665Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521329C>T	NCI-TCGA
ZEB1	P37275	p.Asn666Lys	rs1413142658	missense variant	-	NC_000010.11:g.31521333T>A	TOPMed
ZEB1	P37275	p.Ala667Glu	rs765231011	missense variant	-	NC_000010.11:g.31521335C>A	ExAC,gnomAD
ZEB1	P37275	p.Ala667Val	rs765231011	missense variant	-	NC_000010.11:g.31521335C>T	ExAC,gnomAD
ZEB1	P37275	p.Asn668Asp	rs575916787	missense variant	-	NC_000010.11:g.31521337A>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro670Thr	rs758533417	missense variant	-	NC_000010.11:g.31521343C>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro670Arg	rs766667407	missense variant	-	NC_000010.11:g.31521344C>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro670Ser	rs758533417	missense variant	-	NC_000010.11:g.31521343C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser673Asn	rs947165353	missense variant	-	NC_000010.11:g.31521353G>A	TOPMed,gnomAD
ZEB1	P37275	p.Thr674Ile	rs1158797168	missense variant	-	NC_000010.11:g.31521356C>T	gnomAD
ZEB1	P37275	p.Thr674Lys	COSM427486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521356C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Val675Glu	rs1360435166	missense variant	-	NC_000010.11:g.31521359T>A	gnomAD
ZEB1	P37275	p.Asn676Asp	rs1418461909	missense variant	-	NC_000010.11:g.31521361A>G	gnomAD
ZEB1	P37275	p.Asn676Thr	rs536978134	missense variant	-	NC_000010.11:g.31521362A>C	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asn676Ser	rs536978134	missense variant	-	NC_000010.11:g.31521362A>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu677Val	rs267602469	missense variant	-	NC_000010.11:g.31521364C>G	ExAC,gnomAD
ZEB1	P37275	p.Gln678His	rs146821579	missense variant	-	NC_000010.11:g.31521369A>C	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser679Ile	rs1273301388	missense variant	-	NC_000010.11:g.31521371G>T	gnomAD
ZEB1	P37275	p.Pro680Ser	COSM3437258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521373C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro680PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.31521372_31521373TC>-	NCI-TCGA
ZEB1	P37275	p.Leu681Trp	rs756636203	missense variant	-	NC_000010.11:g.31521377T>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu681Ser	rs756636203	missense variant	-	NC_000010.11:g.31521377T>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys682Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521381G>T	NCI-TCGA
ZEB1	P37275	p.Met683Ile	rs771563761	missense variant	-	NC_000010.11:g.31521384G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Met683Thr	rs558328453	missense variant	-	NC_000010.11:g.31521383T>C	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Met683Leu	rs776114008	missense variant	-	NC_000010.11:g.31521382A>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Thr684Ser	rs1214405881	missense variant	-	NC_000010.11:g.31521386C>G	gnomAD
ZEB1	P37275	p.Asn685Asp	rs991180993	missense variant	-	NC_000010.11:g.31521388A>G	TOPMed,gnomAD
ZEB1	P37275	p.Ser686Phe	rs775271989	missense variant	-	NC_000010.11:g.31521392C>T	ExAC,gnomAD
ZEB1	P37275	p.Ser686Tyr	rs775271989	missense variant	-	NC_000010.11:g.31521392C>A	ExAC,gnomAD
ZEB1	P37275	p.Pro687Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521394C>A	NCI-TCGA
ZEB1	P37275	p.Leu689Ser	rs1244619463	missense variant	-	NC_000010.11:g.31521401T>C	TOPMed,gnomAD
ZEB1	P37275	p.Leu689Phe	rs1470992136	missense variant	-	NC_000010.11:g.31521402A>T	gnomAD
ZEB1	P37275	p.Pro690Leu	rs768288824	missense variant	-	NC_000010.11:g.31521404C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro690Arg	rs768288824	missense variant	-	NC_000010.11:g.31521404C>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro690Gln	rs768288824	missense variant	-	NC_000010.11:g.31521404C>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Val691Leu	rs765317194	missense variant	-	NC_000010.11:g.31521406G>T	ExAC,gnomAD
ZEB1	P37275	p.Val691Met	rs765317194	missense variant	-	NC_000010.11:g.31521406G>A	ExAC,gnomAD
ZEB1	P37275	p.Gly692Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521410G>A	NCI-TCGA
ZEB1	P37275	p.Ser693Leu	rs897955378	missense variant	-	NC_000010.11:g.31521413C>T	TOPMed,gnomAD
ZEB1	P37275	p.Thr694Ala	rs766380256	missense variant	-	NC_000010.11:g.31521415A>G	ExAC,gnomAD
ZEB1	P37275	p.Asn696Ser	rs567252241	missense variant	-	NC_000010.11:g.31521422A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser698Cys	rs1015763652	missense variant	-	NC_000010.11:g.31521428C>G	TOPMed,gnomAD
ZEB1	P37275	p.Arg699Ile	COSM917706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521431G>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Ser701Gly	rs767728746	missense variant	-	NC_000010.11:g.31521436A>G	ExAC,gnomAD
ZEB1	P37275	p.Thr702Ala	rs961869387	missense variant	-	NC_000010.11:g.31521439A>G	TOPMed,gnomAD
ZEB1	P37275	p.Ser704Tyr	rs1237800383	missense variant	-	NC_000010.11:g.31521446C>A	gnomAD
ZEB1	P37275	p.Ser706Thr	rs756437965	missense variant	-	NC_000010.11:g.31521451T>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser706Pro	rs756437965	missense variant	-	NC_000010.11:g.31521451T>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser712Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521469T>A	NCI-TCGA
ZEB1	P37275	p.Arg714Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521476G>A	NCI-TCGA
ZEB1	P37275	p.Thr716Ala	rs749783810	missense variant	-	NC_000010.11:g.31521481A>G	ExAC,gnomAD
ZEB1	P37275	p.Gln717Lys	COSM684489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521484C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Gly718Asp	rs779435142	missense variant	-	NC_000010.11:g.31521488G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gly718Ser	rs971827454	missense variant	-	NC_000010.11:g.31521487G>A	TOPMed
ZEB1	P37275	p.Gly718Val	rs779435142	missense variant	-	NC_000010.11:g.31521488G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Tyr719Cys	rs1437280030	missense variant	-	NC_000010.11:g.31521491A>G	gnomAD
ZEB1	P37275	p.Leu720Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31521494T>A	NCI-TCGA
ZEB1	P37275	p.Leu720Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521495G>T	NCI-TCGA
ZEB1	P37275	p.Tyr721Ter	COSM917708	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31521498C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Thr722Ala	rs746487934	missense variant	-	NC_000010.11:g.31521499A>G	ExAC,gnomAD
ZEB1	P37275	p.Ala723Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521502G>A	NCI-TCGA
ZEB1	P37275	p.Glu724Asp	rs1435186815	missense variant	-	NC_000010.11:g.31521507G>C	gnomAD
ZEB1	P37275	p.Glu724Lys	COSM1702237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521505G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Gly725Ser	rs1199663006	missense variant	-	NC_000010.11:g.31521508G>A	gnomAD
ZEB1	P37275	p.Gly725Ala	rs1472784418	missense variant	-	NC_000010.11:g.31521509G>C	TOPMed,gnomAD
ZEB1	P37275	p.Gln727Lys	COSM271906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521514C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu728Asp	rs200572671	missense variant	-	NC_000010.11:g.31521519A>C	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu728Gln	rs768220049	missense variant	-	NC_000010.11:g.31521517G>C	ExAC,gnomAD
ZEB1	P37275	p.Glu729Asp	rs1223784725	missense variant	-	NC_000010.11:g.31521522G>T	TOPMed
ZEB1	P37275	p.Pro730Ser	rs1322408741	missense variant	-	NC_000010.11:g.31521523C>T	TOPMed
ZEB1	P37275	p.Gln731Arg	rs1398123792	missense variant	-	NC_000010.11:g.31521527A>G	gnomAD
ZEB1	P37275	p.Val732Gly	rs372597335	missense variant	-	NC_000010.11:g.31521530T>G	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu733Asp	rs1226807925	missense variant	-	NC_000010.11:g.31521534A>C	TOPMed
ZEB1	P37275	p.Leu735Val	rs138456617	missense variant	-	NC_000010.11:g.31521538C>G	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu735Phe	COSM684488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521538C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu739Gln	rs1340969576	missense variant	-	NC_000010.11:g.31521551T>A	gnomAD
ZEB1	P37275	p.Leu739Ile	rs893808879	missense variant	-	NC_000010.11:g.31521550C>A	TOPMed
ZEB1	P37275	p.Pro740Ser	COSM917709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521553C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Gly744Arg	rs1282162939	missense variant	-	NC_000010.11:g.31521565G>A	gnomAD
ZEB1	P37275	p.Gly744Glu	COSM3437263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521566G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu746Val	rs1369187527	missense variant	-	NC_000010.11:g.31521571T>G	TOPMed
ZEB1	P37275	p.Glu748Gln	rs1218789036	missense variant	-	NC_000010.11:g.31521577G>C	gnomAD
ZEB1	P37275	p.Ser750Leu	rs1458928910	missense variant	-	NC_000010.11:g.31521584C>T	TOPMed
ZEB1	P37275	p.Ser750Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521583T>C	NCI-TCGA
ZEB1	P37275	p.Thr751Ala	rs138507868	missense variant	-	NC_000010.11:g.31521586A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ile752Val	rs774314051	missense variant	-	NC_000010.11:g.31521589A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Thr753Ala	rs934500392	missense variant	-	NC_000010.11:g.31521592A>G	TOPMed
ZEB1	P37275	p.Ser754Ile	rs1201649107	missense variant	-	NC_000010.11:g.31521596G>T	gnomAD
ZEB1	P37275	p.Tyr756Cys	rs1442305549	missense variant	-	NC_000010.11:g.31521602A>G	gnomAD
ZEB1	P37275	p.Gln757His	rs1035424862	missense variant	-	NC_000010.11:g.31521606G>C	gnomAD
ZEB1	P37275	p.Ser759Asn	rs767671906	missense variant	-	NC_000010.11:g.31521611G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser759Thr	rs767671906	missense variant	-	NC_000010.11:g.31521611G>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Tyr761His	rs200667415	missense variant	-	NC_000010.11:g.31521616T>C	1000Genomes
ZEB1	P37275	p.Ser762Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521620C>T	NCI-TCGA
ZEB1	P37275	p.Val763Ala	rs752911356	missense variant	-	NC_000010.11:g.31521623T>C	ExAC,gnomAD
ZEB1	P37275	p.Gln764Arg	rs376963555	missense variant	-	NC_000010.11:g.31521626A>G	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu766ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.31521630_31521631insAGGTTTAGAG	NCI-TCGA
ZEB1	P37275	p.Ser771Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521647C>T	NCI-TCGA
ZEB1	P37275	p.Cys772Ter	rs143340752	stop gained	-	NC_000010.11:g.31521651C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Cys772Arg	rs1369268866	missense variant	-	NC_000010.11:g.31521649T>C	gnomAD
ZEB1	P37275	p.Cys772Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521650G>T	NCI-TCGA
ZEB1	P37275	p.Ala773Val	rs201927623	missense variant	-	NC_000010.11:g.31521653C>T	TOPMed,gnomAD
ZEB1	P37275	p.Ala773Glu	rs201927623	missense variant	-	NC_000010.11:g.31521653C>A	TOPMed,gnomAD
ZEB1	P37275	p.Ala773Thr	rs754135071	missense variant	-	NC_000010.11:g.31521652G>A	ExAC,gnomAD
ZEB1	P37275	p.Ala773Ser	COSM1347600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521652G>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Lys774Glu	rs757736270	missense variant	-	NC_000010.11:g.31521655A>G	ExAC,gnomAD
ZEB1	P37275	p.Glu776Lys	rs867046059	missense variant	-	NC_000010.11:g.31521661G>A	-
ZEB1	P37275	p.Glu776GlyPheSerTerUnkUnk	COSM5703571	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31521653_31521654insA	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro777Ala	COSM6129306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521664C>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Gln778His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521669A>C	NCI-TCGA
ZEB1	P37275	p.Lys779Gln	rs1488150084	missense variant	-	NC_000010.11:g.31521670A>C	TOPMed
ZEB1	P37275	p.Asp780His	COSM3437267	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521673G>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Ser781Thr	rs751082362	missense variant	-	NC_000010.11:g.31521677G>C	ExAC,gnomAD
ZEB1	P37275	p.Ser781Asn	rs751082362	missense variant	-	NC_000010.11:g.31521677G>A	ExAC,gnomAD
ZEB1	P37275	p.Ser781Arg	rs779430575	missense variant	-	NC_000010.11:g.31521676A>C	ExAC,gnomAD
ZEB1	P37275	p.Asp785Gly	rs550539833	missense variant	-	NC_000010.11:g.31521689A>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp785Asn	COSM4536881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521688G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu787Gln	COSM6129304	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521694G>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro788Ser	rs1230453865	missense variant	-	NC_000010.11:g.31521697C>T	TOPMed,gnomAD
ZEB1	P37275	p.Pro788Ala	rs1230453865	missense variant	-	NC_000010.11:g.31521697C>G	TOPMed,gnomAD
ZEB1	P37275	p.Ile793Val	rs747813271	missense variant	-	NC_000010.11:g.31521712A>G	ExAC,gnomAD
ZEB1	P37275	p.Ile793Asn	COSM4013783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521713T>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Ile793Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521713T>C	NCI-TCGA
ZEB1	P37275	p.Pro794Ser	rs963030640	missense variant	-	NC_000010.11:g.31521715C>T	-
ZEB1	P37275	p.Pro794Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521715C>G	NCI-TCGA
ZEB1	P37275	p.Pro795LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.31521718_31521719insTGGTAAAA	NCI-TCGA
ZEB1	P37275	p.Pro795LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.31521718_31521719insTGGTA	NCI-TCGA
ZEB1	P37275	p.Pro795Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521719C>A	NCI-TCGA
ZEB1	P37275	p.Ser796Arg	rs552081232	missense variant	-	NC_000010.11:g.31521723T>G	gnomAD
ZEB1	P37275	p.Asn798Lys	rs565466253	missense variant	-	NC_000010.11:g.31521729C>A	1000Genomes
ZEB1	P37275	p.Pro799Ala	rs777737619	missense variant	-	NC_000010.11:g.31521730C>G	ExAC,gnomAD
ZEB1	P37275	p.Ile800Val	rs1049711305	missense variant	-	NC_000010.11:g.31521733A>G	TOPMed
ZEB1	P37275	p.Ile802Thr	rs762105480	missense variant	-	NC_000010.11:g.31521740T>C	gnomAD
ZEB1	P37275	p.Ala803Thr	rs148358382	missense variant	-	NC_000010.11:g.31521742G>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ile804Thr	rs1577181	missense variant	-	NC_000010.11:g.31521746T>C	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Thr806Ala	rs141194628	missense variant	-	NC_000010.11:g.31521751A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala809Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521760G>A	NCI-TCGA
ZEB1	P37275	p.Gln810Arg	rs199944415	missense variant	-	NC_000010.11:g.31521764A>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln810Glu	rs760893051	missense variant	-	NC_000010.11:g.31521763C>G	ExAC,gnomAD
ZEB1	P37275	p.Gln810Pro	rs199944415	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521764A>C	UniProt,dbSNP
ZEB1	P37275	p.Gln810Pro	VAR_063761	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521764A>C	UniProt
ZEB1	P37275	p.Gln810Pro	rs199944415	missense variant	-	NC_000010.11:g.31521764A>C	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro812Leu	COSM3437270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521770C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro812Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521769C>A	NCI-TCGA
ZEB1	P37275	p.Ile814Val	rs757970056	missense variant	-	NC_000010.11:g.31521775A>G	TOPMed,gnomAD
ZEB1	P37275	p.Val815Met	rs547762784	missense variant	-	NC_000010.11:g.31521778G>A	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Val823Phe	rs1301553502	missense variant	-	NC_000010.11:g.31521802G>T	TOPMed,gnomAD
ZEB1	P37275	p.Val823Leu	rs1301553502	missense variant	-	NC_000010.11:g.31521802G>C	TOPMed,gnomAD
ZEB1	P37275	p.Pro824Ser	rs780851334	missense variant	-	NC_000010.11:g.31521805C>T	ExAC,gnomAD
ZEB1	P37275	p.Cys825Ser	rs1466315024	missense variant	-	NC_000010.11:g.31521808T>A	TOPMed
ZEB1	P37275	p.Ala828Pro	rs752212757	missense variant	-	NC_000010.11:g.31521817G>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala828Thr	rs752212757	missense variant	-	NC_000010.11:g.31521817G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala828Ser	rs752212757	missense variant	-	NC_000010.11:g.31521817G>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala828Val	COSM1347602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521818C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu829Val	rs749076556	missense variant	-	NC_000010.11:g.31521820C>G	ExAC,gnomAD
ZEB1	P37275	p.Ala830Pro	rs1284262566	missense variant	-	NC_000010.11:g.31521823G>C	gnomAD
ZEB1	P37275	p.Ala830Asp	rs757070078	missense variant	-	NC_000010.11:g.31521824C>A	ExAC,gnomAD
ZEB1	P37275	p.Ala831Asp	rs778771729	missense variant	-	NC_000010.11:g.31521827C>A	ExAC,gnomAD
ZEB1	P37275	p.Asn832Lys	rs745829658	missense variant	-	NC_000010.11:g.31521831T>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys833Glu	rs771931451	missense variant	-	NC_000010.11:g.31521832A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys833Gln	rs771931451	missense variant	-	NC_000010.11:g.31521832A>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Leu837Arg	rs558439835	missense variant	-	NC_000010.11:g.31521845T>G	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Ile838Asn	rs978671338	missense variant	-	NC_000010.11:g.31521848T>A	TOPMed
ZEB1	P37275	p.Gln840Pro	rs118020901	missense variant	Corneal dystrophy, fuchs endothelial, 6 (fecd6)	NC_000010.11:g.31521854A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln840Arg	rs118020901	missense variant	Corneal dystrophy, fuchs endothelial, 6 (fecd6)	NC_000010.11:g.31521854A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln840Pro	RCV000013469	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521854A>C	ClinVar
ZEB1	P37275	p.Gln840His	COSM1347603	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521855G>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Ala842Thr	rs776885703	missense variant	-	NC_000010.11:g.31521859G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Tyr843Cys	rs1459247481	missense variant	-	NC_000010.11:g.31521863A>G	gnomAD
ZEB1	P37275	p.Tyr843His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521862T>C	NCI-TCGA
ZEB1	P37275	p.Thr844Ala	rs1365284074	missense variant	-	NC_000010.11:g.31521865A>G	TOPMed
ZEB1	P37275	p.Tyr845Ser	rs1035483754	missense variant	-	NC_000010.11:g.31521869A>C	TOPMed,gnomAD
ZEB1	P37275	p.Thr847Ala	rs1384759849	missense variant	-	NC_000010.11:g.31521874A>G	gnomAD
ZEB1	P37275	p.Thr848Met	rs759615272	missense variant	-	NC_000010.11:g.31521878C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser850Ile	rs763545266	missense variant	-	NC_000010.11:g.31521884G>T	ExAC,gnomAD
ZEB1	P37275	p.Ser850Asn	COSM3437273	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521884G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro851Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521886C>T	NCI-TCGA
ZEB1	P37275	p.Gln854Lys	rs139581793	missense variant	-	NC_000010.11:g.31521895C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln854Arg	rs932738732	missense variant	-	NC_000010.11:g.31521896A>G	TOPMed,gnomAD
ZEB1	P37275	p.Gln854His	COSM4013785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521897A>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu855Ala	COSM6129302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521899A>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Leu858Phe	rs554201038	missense variant	-	NC_000010.11:g.31521909G>C	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Ile861Asn	rs1200777635	missense variant	-	NC_000010.11:g.31521917T>A	gnomAD
ZEB1	P37275	p.Ile861Met	rs267602470	missense variant	-	NC_000010.11:g.31521918C>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ile861Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521917T>C	NCI-TCGA
ZEB1	P37275	p.Gln862Lys	rs1463677279	missense variant	-	NC_000010.11:g.31521919C>A	TOPMed
ZEB1	P37275	p.Pro863Arg	rs202145455	missense variant	-	NC_000010.11:g.31521923C>G	1000Genomes,ExAC
ZEB1	P37275	p.Pro863Leu	rs202145455	missense variant	-	NC_000010.11:g.31521923C>T	1000Genomes,ExAC
ZEB1	P37275	p.Pro863Thr	rs756800827	missense variant	-	NC_000010.11:g.31521922C>A	ExAC,gnomAD
ZEB1	P37275	p.Asn864Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31521926A>G	NCI-TCGA
ZEB1	P37275	p.Asn866Ser	rs745612409	missense variant	-	NC_000010.11:g.31521932A>G	ExAC,gnomAD
ZEB1	P37275	p.Asp868Gly	rs1046992544	missense variant	-	NC_000010.11:g.31523934A>G	TOPMed
ZEB1	P37275	p.Asp868Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31523933G>A	NCI-TCGA
ZEB1	P37275	p.Glu869Lys	COSM5890552	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31523936G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Asp872His	rs763672095	missense variant	-	NC_000010.11:g.31523945G>C	ExAC,gnomAD
ZEB1	P37275	p.Asp872Val	rs1231871221	missense variant	-	NC_000010.11:g.31523946A>T	TOPMed
ZEB1	P37275	p.Thr873Ala	rs369581136	missense variant	-	NC_000010.11:g.31523948A>G	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Thr873Ser	rs369581136	missense variant	-	NC_000010.11:g.31523948A>T	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser875Ter	COSM6129300	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31523955C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu876Lys	rs1223771812	missense variant	-	NC_000010.11:g.31523957G>A	TOPMed
ZEB1	P37275	p.Gly877Arg	rs1302778137	missense variant	-	NC_000010.11:g.31523960G>A	gnomAD
ZEB1	P37275	p.Gly877Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31523960G>T	NCI-TCGA
ZEB1	P37275	p.Val878Ile	rs1027441392	missense variant	-	NC_000010.11:g.31523963G>A	gnomAD
ZEB1	P37275	p.Val878Gly	rs1370510238	missense variant	-	NC_000010.11:g.31523964T>G	TOPMed
ZEB1	P37275	p.Val878Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31523963G>T	NCI-TCGA
ZEB1	P37275	p.Gln884His	COSM4013789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31523983G>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Asp886Gly	rs750281534	missense variant	-	NC_000010.11:g.31523988A>G	ExAC,gnomAD
ZEB1	P37275	p.Thr890Ile	rs1393302497	missense variant	-	NC_000010.11:g.31524000C>T	TOPMed
ZEB1	P37275	p.Thr890Pro	rs143370284	missense variant	-	NC_000010.11:g.31523999A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro891Gln	rs369330183	missense variant	-	NC_000010.11:g.31524003C>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro891Leu	rs369330183	missense variant	-	NC_000010.11:g.31524003C>T	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Pro892Ala	rs754854883	missense variant	-	NC_000010.11:g.31524005C>G	ExAC,gnomAD
ZEB1	P37275	p.Lys893Arg	rs781360863	missense variant	-	NC_000010.11:g.31524009A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys893Ile	rs781360863	missense variant	-	NC_000010.11:g.31524009A>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys894Thr	rs748125873	missense variant	-	NC_000010.11:g.31524012A>C	ExAC,gnomAD
ZEB1	P37275	p.Lys894Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31524013G>T	NCI-TCGA
ZEB1	P37275	p.Met896Leu	rs905064760	missense variant	-	NC_000010.11:g.31524017A>T	TOPMed
ZEB1	P37275	p.Met896Arg	rs777824092	missense variant	-	NC_000010.11:g.31524018T>G	ExAC,gnomAD
ZEB1	P37275	p.Arg897Trp	rs1263670005	missense variant	-	NC_000010.11:g.31524020C>T	gnomAD
ZEB1	P37275	p.Arg897Gln	rs35653460	missense variant	-	NC_000010.11:g.31524021G>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Arg897Leu	COSM3985582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31524021G>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Thr899Ile	rs1184416010	missense variant	-	NC_000010.11:g.31524027C>T	gnomAD
ZEB1	P37275	p.Glu900Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31524031A>T	NCI-TCGA
ZEB1	P37275	p.Asn901Asp	rs771407868	missense variant	-	NC_000010.11:g.31524032A>G	ExAC,gnomAD
ZEB1	P37275	p.Met903Val	rs184220160	missense variant	-	NC_000010.11:g.31524038A>G	1000Genomes,ExAC
ZEB1	P37275	p.Tyr904Cys	rs1212127716	missense variant	-	NC_000010.11:g.31524042A>G	TOPMed
ZEB1	P37275	p.Ala905Gly	rs78449005	missense variant	-	NC_000010.11:g.31524045C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala905Gly	rs78449005	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31524045C>G	UniProt,dbSNP
ZEB1	P37275	p.Ala905Gly	VAR_072900	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31524045C>G	UniProt
ZEB1	P37275	p.Ala905Asp	COSM917713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31524045C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Ala905Pro	COSM684487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31524044G>C	NCI-TCGA Cosmic
ZEB1	P37275	p.Ala905Thr	VAR_063763	Missense	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]	-	UniProt
ZEB1	P37275	p.Cys906Arg	rs776228676	missense variant	-	NC_000010.11:g.31524047T>C	ExAC
ZEB1	P37275	p.Cys906Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31524048G>C	NCI-TCGA
ZEB1	P37275	p.Asp907Gly	rs1374156498	missense variant	-	NC_000010.11:g.31524051A>G	gnomAD
ZEB1	P37275	p.Leu908Phe	rs1422109520	missense variant	-	NC_000010.11:g.31524055G>T	gnomAD
ZEB1	P37275	p.Phe913Leu	rs761206667	missense variant	-	NC_000010.11:g.31524070C>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln914Arg	rs764981454	missense variant	-	NC_000010.11:g.31524072A>G	ExAC,gnomAD
ZEB1	P37275	p.Gln914Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31524072A>C	NCI-TCGA
ZEB1	P37275	p.Ser916Ile	rs750075928	missense variant	-	NC_000010.11:g.31524078G>T	ExAC,gnomAD
ZEB1	P37275	p.Leu920Phe	rs1368644612	missense variant	-	NC_000010.11:g.31524091G>T	gnomAD
ZEB1	P37275	p.Tyr924His	rs1009525977	missense variant	-	NC_000010.11:g.31524101T>C	TOPMed
ZEB1	P37275	p.His926Tyr	rs1234398582	missense variant	-	NC_000010.11:g.31524107C>T	TOPMed
ZEB1	P37275	p.Gly928Asp	rs1158946120	missense variant	-	NC_000010.11:g.31526672G>A	TOPMed,gnomAD
ZEB1	P37275	p.Lys929Glu	rs1409287175	missense variant	-	NC_000010.11:g.31526674A>G	gnomAD
ZEB1	P37275	p.His932Tyr	rs370801976	missense variant	-	NC_000010.11:g.31526683C>T	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.His932Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526684A>G	NCI-TCGA
ZEB1	P37275	p.Glu933Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526688G>T	NCI-TCGA
ZEB1	P37275	p.Gly935Arg	rs1352966657	missense variant	-	NC_000010.11:g.31526692G>A	gnomAD
ZEB1	P37275	p.Ala940Val	rs538280043	missense variant	-	NC_000010.11:g.31526708C>T	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Ala940Thr	rs1358076316	missense variant	-	NC_000010.11:g.31526707G>A	gnomAD
ZEB1	P37275	p.Ala940Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526707G>C	NCI-TCGA
ZEB1	P37275	p.His943Tyr	rs1267931152	missense variant	-	NC_000010.11:g.31526716C>T	TOPMed
ZEB1	P37275	p.Leu947Val	rs1220402975	missense variant	-	NC_000010.11:g.31526728T>G	gnomAD
ZEB1	P37275	p.Ile948Val	rs907060173	missense variant	-	NC_000010.11:g.31526731A>G	TOPMed,gnomAD
ZEB1	P37275	p.Ile948Thr	rs761453640	missense variant	-	NC_000010.11:g.31526732T>C	ExAC,gnomAD
ZEB1	P37275	p.Ile948Ter	RCV000394875	frameshift	-	NC_000010.11:g.31526728_31526731TTGA[1]	ClinVar
ZEB1	P37275	p.Met951Thr	rs374536300	missense variant	-	NC_000010.11:g.31526741T>C	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Arg952Gln	rs1178786891	missense variant	-	NC_000010.11:g.31526744G>A	gnomAD
ZEB1	P37275	p.Arg952Ter	COSM267790	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526743C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.His954Arg	rs1402239665	missense variant	-	NC_000010.11:g.31526750A>G	TOPMed
ZEB1	P37275	p.His954Gln	COSM4405865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526751T>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Gly956Arg	COSM3437284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526755G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu957Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31526758G>T	NCI-TCGA
ZEB1	P37275	p.Lys958Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526762A>T	NCI-TCGA
ZEB1	P37275	p.Pro959Ala	rs772653927	missense variant	-	NC_000010.11:g.31526764C>G	ExAC,gnomAD
ZEB1	P37275	p.Gln961Glu	rs1002948043	missense variant	-	NC_000010.11:g.31526770C>G	TOPMed
ZEB1	P37275	p.Gln961Ter	COSM4841694	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526770C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Cys962Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526774G>C	NCI-TCGA
ZEB1	P37275	p.Asp963Asn	rs149757409	missense variant	-	NC_000010.11:g.31526776G>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp963Gly	COSM917714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526777A>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Lys964Thr	rs765964382	missense variant	-	NC_000010.11:g.31526780A>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys964Arg	rs765964382	missense variant	-	NC_000010.11:g.31526780A>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Lys964Ter	COSM6129296	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526779A>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Arg968Cys	rs751401795	missense variant	-	NC_000010.11:g.31526791C>T	ExAC,gnomAD
ZEB1	P37275	p.Arg968His	rs1327333599	missense variant	-	NC_000010.11:g.31526792G>A	TOPMed,gnomAD
ZEB1	P37275	p.Phe969Ile	rs1404922905	missense variant	-	NC_000010.11:g.31526794T>A	gnomAD
ZEB1	P37275	p.Gly973Arg	rs1324134113	missense variant	-	NC_000010.11:g.31526806G>A	gnomAD
ZEB1	P37275	p.Gly973Ala	rs1183267878	missense variant	-	NC_000010.11:g.31526807G>C	TOPMed
ZEB1	P37275	p.Tyr975Cys	rs1460244283	missense variant	-	NC_000010.11:g.31526813A>G	TOPMed
ZEB1	P37275	p.Gln977Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31526818C>T	NCI-TCGA
ZEB1	P37275	p.His978Asp	rs1240441304	missense variant	-	NC_000010.11:g.31526821C>G	TOPMed
ZEB1	P37275	p.Met979Thr	rs759218345	missense variant	-	NC_000010.11:g.31526825T>C	ExAC,gnomAD
ZEB1	P37275	p.Met979Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526826G>A	NCI-TCGA
ZEB1	P37275	p.Asn980Ser	rs767554776	missense variant	-	NC_000010.11:g.31526828A>G	ExAC,gnomAD
ZEB1	P37275	p.Arg982Cys	rs554002482	missense variant	-	NC_000010.11:g.31526833C>T	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Ser984Phe	rs1439976922	missense variant	-	NC_000010.11:g.31526840C>T	gnomAD
ZEB1	P37275	p.Tyr985Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526842T>A	NCI-TCGA
ZEB1	P37275	p.Ala990Glu	rs779888285	missense variant	-	NC_000010.11:g.31526858C>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala990Val	rs779888285	missense variant	-	NC_000010.11:g.31526858C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu991Ala	rs1270882179	missense variant	-	NC_000010.11:g.31526861A>C	gnomAD
ZEB1	P37275	p.Glu992Ter	rs1319631948	stop gained	-	NC_000010.11:g.31526863G>T	gnomAD
ZEB1	P37275	p.Arg993His	rs757576520	missense variant	-	NC_000010.11:g.31526867G>A	ExAC,gnomAD
ZEB1	P37275	p.Arg993Cys	rs753928852	missense variant	-	NC_000010.11:g.31526866C>T	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Asp994Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526869G>A	NCI-TCGA
ZEB1	P37275	p.Ser995Gly	rs371696203	missense variant	-	NC_000010.11:g.31526872A>G	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Thr996Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526876C>T	NCI-TCGA
ZEB1	P37275	p.Gln998Leu	rs1208587856	missense variant	-	NC_000010.11:g.31526882A>T	gnomAD
ZEB1	P37275	p.Glu999Gln	rs1313880844	missense variant	-	NC_000010.11:g.31526884G>C	TOPMed
ZEB1	P37275	p.Ala1001Val	COSM427490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526891C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Ser1007Leu	rs1041866704	missense variant	-	NC_000010.11:g.31526909C>T	gnomAD
ZEB1	P37275	p.His1010Asn	COSM6129294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526917C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.His1010Gln	COSM917715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526919C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Val1011Gly	rs773986137	missense variant	-	NC_000010.11:g.31526921T>G	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Val1011Leu	rs148446855	missense variant	-	NC_000010.11:g.31526920G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Val1011Met	rs148446855	missense variant	-	NC_000010.11:g.31526920G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gly1012Val	rs1341063159	missense variant	-	NC_000010.11:g.31526924G>T	TOPMed,gnomAD
ZEB1	P37275	p.Ala1013Thr	rs1413931094	missense variant	-	NC_000010.11:g.31526926G>A	gnomAD
ZEB1	P37275	p.Arg1014Ser	rs1414691625	missense variant	-	NC_000010.11:g.31526931G>C	TOPMed
ZEB1	P37275	p.Ala1015Val	rs767228225	missense variant	-	NC_000010.11:g.31526933C>T	ExAC,gnomAD
ZEB1	P37275	p.Ser1016Phe	rs1250208239	missense variant	-	NC_000010.11:g.31526936C>T	gnomAD
ZEB1	P37275	p.Ser1018Leu	rs200238558	missense variant	-	NC_000010.11:g.31526942C>T	1000Genomes,gnomAD
ZEB1	P37275	p.Asp1021Asn	rs142629102	missense variant	-	NC_000010.11:g.31526950G>A	ESP,TOPMed
ZEB1	P37275	p.Ser1022Pro	rs575874753	missense variant	-	NC_000010.11:g.31526953T>C	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser1022Leu	COSM917716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526954C>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Ser1022Ter	COSM465602	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526954C>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Asp1023Ala	rs1265837449	missense variant	-	NC_000010.11:g.31526957A>C	gnomAD
ZEB1	P37275	p.Asp1023His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526956G>C	NCI-TCGA
ZEB1	P37275	p.Glu1024Lys	rs975831124	missense variant	-	NC_000010.11:g.31526959G>A	TOPMed
ZEB1	P37275	p.Glu1026Ala	rs757381658	missense variant	-	NC_000010.11:g.31526966A>C	ExAC,gnomAD
ZEB1	P37275	p.Glu1026Val	rs757381658	missense variant	-	NC_000010.11:g.31526966A>T	ExAC,gnomAD
ZEB1	P37275	p.Glu1026Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31526965G>A	NCI-TCGA
ZEB1	P37275	p.Thr1029Ile	rs750598354	missense variant	-	NC_000010.11:g.31526975C>T	ExAC,gnomAD
ZEB1	P37275	p.Thr1029Arg	rs750598354	missense variant	-	NC_000010.11:g.31526975C>G	ExAC,gnomAD
ZEB1	P37275	p.Glu1031Asp	rs1006195314	missense variant	-	NC_000010.11:g.31526982A>T	TOPMed
ZEB1	P37275	p.Glu1031Lys	rs780291714	missense variant	-	NC_000010.11:g.31526980G>A	ExAC,gnomAD
ZEB1	P37275	p.Glu1031Val	rs145633572	missense variant	-	NC_000010.11:g.31526981A>T	ESP,gnomAD
ZEB1	P37275	p.Glu1032Asp	rs747363059	missense variant	-	NC_000010.11:g.31526985G>C	ExAC,TOPMed
ZEB1	P37275	p.Asp1033Asn	rs755483826	missense variant	-	NC_000010.11:g.31526986G>A	ExAC,gnomAD
ZEB1	P37275	p.Glu1037Gly	rs1310795626	missense variant	-	NC_000010.11:g.31526999A>G	gnomAD
ZEB1	P37275	p.Glu1037Ter	COSM917717	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526998G>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Lys1038Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527001A>C	NCI-TCGA
ZEB1	P37275	p.Glu1041Asp	rs1294396214	missense variant	-	NC_000010.11:g.31527012G>T	gnomAD
ZEB1	P37275	p.Glu1041Gly	rs1177656244	missense variant	-	NC_000010.11:g.31527011A>G	gnomAD
ZEB1	P37275	p.Glu1041Lys	rs1370965143	missense variant	-	NC_000010.11:g.31527010G>A	TOPMed
ZEB1	P37275	p.Asp1044Gly	rs962563471	missense variant	-	NC_000010.11:g.31527020A>G	TOPMed,gnomAD
ZEB1	P37275	p.Asp1044Asn	rs748861379	missense variant	-	NC_000010.11:g.31527019G>A	ExAC
ZEB1	P37275	p.Asp1044Val	rs962563471	missense variant	-	NC_000010.11:g.31527020A>T	TOPMed,gnomAD
ZEB1	P37275	p.Met1047Thr	rs994043245	missense variant	-	NC_000010.11:g.31527029T>C	gnomAD
ZEB1	P37275	p.Met1047Ile	rs1209386991	missense variant	-	NC_000010.11:g.31527030G>A	gnomAD
ZEB1	P37275	p.Glu1049Asp	rs1437137642	missense variant	-	NC_000010.11:g.31527036A>C	TOPMed
ZEB1	P37275	p.Glu1052Lys	COSM3867118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527043G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu1053Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527046G>C	NCI-TCGA
ZEB1	P37275	p.Lys1054Arg	rs1302635455	missense variant	-	NC_000010.11:g.31527050A>G	TOPMed
ZEB1	P37275	p.Glu1055Ala	rs745510108	missense variant	-	NC_000010.11:g.31527053A>C	ExAC,gnomAD
ZEB1	P37275	p.Cys1056Arg	rs771715739	missense variant	-	NC_000010.11:g.31527055T>C	ExAC,gnomAD
ZEB1	P37275	p.Cys1056Tyr	rs1199619327	missense variant	-	NC_000010.11:g.31527056G>A	TOPMed,gnomAD
ZEB1	P37275	p.Cys1056Phe	rs1199619327	missense variant	-	NC_000010.11:g.31527056G>T	TOPMed,gnomAD
ZEB1	P37275	p.Glu1057Asp	rs146561222	missense variant	-	NC_000010.11:g.31527060A>C	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu1057Lys	COSM5909066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527058G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu1057Gly	COSM3807046	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527059A>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Lys1058AsnPheSerTerUnkUnk	COSM5139618	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31527059A>-	NCI-TCGA Cosmic
ZEB1	P37275	p.Pro1059Ala	rs1453663050	missense variant	-	NC_000010.11:g.31527064C>G	gnomAD
ZEB1	P37275	p.Gly1061Arg	rs1171688073	missense variant	-	NC_000010.11:g.31527070G>A	gnomAD
ZEB1	P37275	p.Gly1061Glu	COSM427491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527071G>A	NCI-TCGA Cosmic
ZEB1	P37275	p.Gly1061Trp	COSM6065839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527070G>T	NCI-TCGA Cosmic
ZEB1	P37275	p.Asp1062Val	rs562863368	missense variant	-	NC_000010.11:g.31527074A>T	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Asp1062Glu	rs768754218	missense variant	-	NC_000010.11:g.31527075T>G	ExAC
ZEB1	P37275	p.Asp1062Glu	rs768754218	missense variant	-	NC_000010.11:g.31527075T>A	ExAC
ZEB1	P37275	p.Glu1063Lys	rs762043318	missense variant	-	NC_000010.11:g.31527076G>A	ExAC,gnomAD
ZEB1	P37275	p.Glu1066Asp	rs1382283251	missense variant	-	NC_000010.11:g.31527087G>C	gnomAD
ZEB1	P37275	p.Glu1066Gly	NCI-TCGA novel	insertion	-	NC_000010.11:g.31527086_31527087insGGG	NCI-TCGA
ZEB1	P37275	p.Glu1067Ter	rs1388185484	stop gained	-	NC_000010.11:g.31527088G>T	gnomAD
ZEB1	P37275	p.Glu1067Ala	rs1323593817	missense variant	-	NC_000010.11:g.31527089A>C	gnomAD
ZEB1	P37275	p.Glu1068Gly	rs1369634338	missense variant	-	NC_000010.11:g.31527092A>G	gnomAD
ZEB1	P37275	p.Glu1069Lys	rs955193940	missense variant	-	NC_000010.11:g.31527094G>A	gnomAD
ZEB1	P37275	p.Glu1071Val	rs1286252350	missense variant	-	NC_000010.11:g.31527101A>T	TOPMed
ZEB1	P37275	p.Glu1071Lys	rs1312091878	missense variant	-	NC_000010.11:g.31527100G>A	gnomAD
ZEB1	P37275	p.Val1072Gly	rs545057622	missense variant	-	NC_000010.11:g.31527104T>G	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu1075Ter	rs1259380440	stop gained	-	NC_000010.11:g.31527112G>T	gnomAD
ZEB1	P37275	p.Glu1076Val	rs375270538	missense variant	-	NC_000010.11:g.31527116A>T	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu1076Lys	rs766577918	missense variant	-	NC_000010.11:g.31527115G>A	ExAC,gnomAD
ZEB1	P37275	p.Val1077Ile	rs146672684	missense variant	-	NC_000010.11:g.31527118G>A	1000Genomes,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala1080Glu	rs1382067024	missense variant	-	NC_000010.11:g.31527128C>A	gnomAD
ZEB1	P37275	p.Glu1081Ala	rs1289642724	missense variant	-	NC_000010.11:g.31527131A>C	TOPMed
ZEB1	P37275	p.Glu1081Lys	rs140217290	missense variant	-	NC_000010.11:g.31527130G>A	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Glu1081Gln	rs140217290	missense variant	-	NC_000010.11:g.31527130G>C	1000Genomes,ExAC,gnomAD
ZEB1	P37275	p.Asn1082Ser	rs1158050644	missense variant	-	NC_000010.11:g.31527134A>G	gnomAD
ZEB1	P37275	p.Asn1082Asp	COSM4013798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527133A>G	NCI-TCGA Cosmic
ZEB1	P37275	p.Glu1083Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527136G>A	NCI-TCGA
ZEB1	P37275	p.Gly1084Glu	rs778315904	missense variant	-	NC_000010.11:g.31527140G>A	ExAC
ZEB1	P37275	p.Gly1084Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31527139G>T	NCI-TCGA
ZEB1	P37275	p.Gly1084Arg	rs914827545	missense variant	-	NC_000010.11:g.31527139G>A	gnomAD
ZEB1	P37275	p.Glu1085Gln	rs745333564	missense variant	-	NC_000010.11:g.31527142G>C	ExAC,gnomAD
ZEB1	P37275	p.Glu1086Ala	rs201845244	missense variant	-	NC_000010.11:g.31527146A>C	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu1086Lys	rs771670426	missense variant	-	NC_000010.11:g.31527145G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ala1087Glu	rs1178691983	missense variant	-	NC_000010.11:g.31527149C>A	TOPMed
ZEB1	P37275	p.Ala1087Thr	rs746846574	missense variant	-	NC_000010.11:g.31527148G>A	ExAC,gnomAD
ZEB1	P37275	p.Thr1089Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527155C>A	NCI-TCGA
ZEB1	P37275	p.Thr1089Ser	rs1378260622	missense variant	-	NC_000010.11:g.31527154A>T	gnomAD
ZEB1	P37275	p.Met1093Arg	rs1305232912	missense variant	-	NC_000010.11:g.31527167T>G	TOPMed,gnomAD
ZEB1	P37275	p.Asp1095His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527172G>C	NCI-TCGA
ZEB1	P37275	p.Asp1096Val	rs141086946	missense variant	-	NC_000010.11:g.31527176A>T	ESP,TOPMed
ZEB1	P37275	p.Arg1097Lys	rs1333024440	missense variant	-	NC_000010.11:g.31527179G>A	TOPMed,gnomAD
ZEB1	P37275	p.Arg1097Thr	rs1333024440	missense variant	-	NC_000010.11:g.31527179G>C	TOPMed,gnomAD
ZEB1	P37275	p.Ala1098Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527181G>T	NCI-TCGA
ZEB1	P37275	p.Glu1099Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527184G>A	NCI-TCGA
ZEB1	P37275	p.Ser1100Asn	rs1205084569	missense variant	-	NC_000010.11:g.31527188G>A	TOPMed,gnomAD
ZEB1	P37275	p.Gln1101Arg	rs999031795	missense variant	-	NC_000010.11:g.31527191A>G	TOPMed
ZEB1	P37275	p.Gln1101His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527192A>T	NCI-TCGA
ZEB1	P37275	p.Ala1102Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527193G>T	NCI-TCGA
ZEB1	P37275	p.Ser1103Gly	rs1257482726	missense variant	-	NC_000010.11:g.31527196A>G	TOPMed
ZEB1	P37275	p.Ser1103Asn	rs150279725	missense variant	-	NC_000010.11:g.31527197G>A	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Ser1104Asn	rs867898481	missense variant	-	NC_000010.11:g.31527200G>A	-
ZEB1	P37275	p.Ser1104Arg	rs1261143096	missense variant	-	NC_000010.11:g.31527199A>C	TOPMed
ZEB1	P37275	p.Leu1105Val	rs138952579	missense variant	-	NC_000010.11:g.31527202T>G	ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gly1106Val	rs780789057	missense variant	-	NC_000010.11:g.31527206G>T	gnomAD
ZEB1	P37275	p.Gly1106Arg	rs1248076108	missense variant	-	NC_000010.11:g.31527205G>C	gnomAD
ZEB1	P37275	p.Gly1106Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.31527205G>T	NCI-TCGA
ZEB1	P37275	p.Gly1110Asp	rs766825578	missense variant	-	NC_000010.11:g.31527218G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gly1110Ser	rs1296422833	missense variant	-	NC_000010.11:g.31527217G>A	TOPMed
ZEB1	P37275	p.Glu1111Lys	rs143438972	missense variant	-	NC_000010.11:g.31527220G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu1111Ter	rs143438972	stop gained	-	NC_000010.11:g.31527220G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Glu1111Asp	rs759693175	missense variant	-	NC_000010.11:g.31527222G>C	ExAC,gnomAD
ZEB1	P37275	p.Ser1112Asn	rs767871131	missense variant	-	NC_000010.11:g.31527224G>A	ExAC,TOPMed,gnomAD
ZEB1	P37275	p.Gln1115Ter	rs1467674685	stop gained	-	NC_000010.11:g.31527232C>T	TOPMed
ZEB1	P37275	p.Gln1115His	rs756636108	missense variant	-	NC_000010.11:g.31527234A>C	ExAC,gnomAD
ZEB1	P37275	p.Val1116Met	rs1373087690	missense variant	-	NC_000010.11:g.31527235G>A	TOPMed
ZEB1	P37275	p.Ser1117Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.31527238T>C	NCI-TCGA
ZEB1	P37275	p.Glu1118Lys	rs778320489	missense variant	-	NC_000010.11:g.31527241G>A	ExAC,gnomAD
ZEB1	P37275	p.Thr1121Ile	rs1166661461	missense variant	-	NC_000010.11:g.31527251C>T	gnomAD
ZEB1	P37275	p.Ala1124Thr	rs749942924	missense variant	-	NC_000010.11:g.31527259G>A	ExAC,gnomAD
PIGA	P37287	p.Cys3Arg	rs755718762	missense variant	-	NC_000023.11:g.15331924A>G	1000Genomes,ExAC,gnomAD
PIGA	P37287	p.Gly8Arg	rs1256797925	missense variant	-	NC_000023.11:g.15331909C>T	gnomAD
PIGA	P37287	p.His11Arg	rs748902332	missense variant	-	NC_000023.11:g.15331899T>C	ExAC,gnomAD
PIGA	P37287	p.Arg12Cys	rs201637489	missense variant	-	NC_000023.11:g.15331897G>A	TOPMed,gnomAD
PIGA	P37287	p.Arg12His	rs1380833875	missense variant	-	NC_000023.11:g.15331896C>T	TOPMed
PIGA	P37287	p.Arg12His	COSM4880836	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331896C>T	NCI-TCGA Cosmic
PIGA	P37287	p.Ala13Asp	NCI-TCGA novel	missense variant	-	chrX:g.15331893G>T	NCI-TCGA
PIGA	P37287	p.Ala15Thr	rs369608621	missense variant	-	NC_000023.11:g.15331888C>T	ESP,TOPMed,gnomAD
PIGA	P37287	p.Leu17Phe	rs1373760754	missense variant	-	NC_000023.11:g.15331882G>A	gnomAD
PIGA	P37287	p.Ser18Tyr	rs769125619	missense variant	-	NC_000023.11:g.15331878G>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ser18Phe	rs769125619	missense variant	-	NC_000023.11:g.15331878G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg19Trp	RCV000712538	missense variant	-	NC_000023.11:g.15331876G>A	ClinVar
PIGA	P37287	p.Arg19Gln	rs1555945553	missense variant	-	NC_000023.11:g.15331875C>T	-
PIGA	P37287	p.Arg19Gln	RCV000578232	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331875C>T	ClinVar
PIGA	P37287	p.Arg19Trp	rs34422225	missense variant	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)	NC_000023.11:g.15331876G>A	UniProt,dbSNP
PIGA	P37287	p.Arg19Trp	VAR_015442	missense variant	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)	NC_000023.11:g.15331876G>A	UniProt
PIGA	P37287	p.Arg19Trp	rs34422225	missense variant	-	NC_000023.11:g.15331876G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg19Trp	RCV000554820	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331876G>A	ClinVar
PIGA	P37287	p.Arg19Trp	RCV000716220	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15331876G>A	ClinVar
PIGA	P37287	p.Arg19Trp	RCV000428596	missense variant	-	NC_000023.11:g.15331876G>A	ClinVar
PIGA	P37287	p.Ser21Ile	RCV000413773	missense variant	-	NC_000023.11:g.15331869C>A	ClinVar
PIGA	P37287	p.Ser21Gly	rs375401655	missense variant	-	NC_000023.11:g.15331870T>C	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ser21Ile	rs1057518239	missense variant	-	NC_000023.11:g.15331869C>A	-
PIGA	P37287	p.Ser21Gly	RCV000718278	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15331870T>C	ClinVar
PIGA	P37287	p.Ser21Gly	RCV000694821	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331870T>C	ClinVar
PIGA	P37287	p.Ser21Gly	RCV000712539	missense variant	-	NC_000023.11:g.15331870T>C	ClinVar
PIGA	P37287	p.Pro22Ser	rs1330690637	missense variant	-	NC_000023.11:g.15331867G>A	gnomAD
PIGA	P37287	p.Pro22Leu	rs1470343850	missense variant	-	NC_000023.11:g.15331866G>A	gnomAD
PIGA	P37287	p.Ser24Ter	RCV000224623	frameshift	-	NC_000023.11:g.15331864dup	ClinVar
PIGA	P37287	p.Tyr26Asn	rs140606572	missense variant	-	NC_000023.11:g.15331855A>T	ESP,ExAC,TOPMed
PIGA	P37287	p.Tyr26Ter	COSM1466581	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.15331853G>-	NCI-TCGA Cosmic
PIGA	P37287	p.Tyr26Cys	NCI-TCGA novel	missense variant	-	chrX:g.15331854T>C	NCI-TCGA
PIGA	P37287	p.Tyr26Ter	RCV000119284	frameshift	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331857dup	ClinVar
PIGA	P37287	p.Thr27Ala	RCV000202879	missense variant	-	NC_000023.11:g.15331852T>C	ClinVar
PIGA	P37287	p.Thr27Ala	rs864309579	missense variant	-	NC_000023.11:g.15331852T>C	-
PIGA	P37287	p.Cys28Tyr	rs747568374	missense variant	-	NC_000023.11:g.15331848C>T	ExAC
PIGA	P37287	p.Arg29Gly	rs1414426904	missense variant	-	NC_000023.11:g.15331846T>C	gnomAD
PIGA	P37287	p.Arg31Cys	rs780532806	missense variant	-	NC_000023.11:g.15331840G>A	ExAC
PIGA	P37287	p.Arg31His	rs758863767	missense variant	-	NC_000023.11:g.15331839C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Thr32Ile	rs1473881207	missense variant	-	NC_000023.11:g.15331836G>A	TOPMed
PIGA	P37287	p.His33Arg	RCV000190762	missense variant	Inborn genetic diseases	NC_000023.11:g.15331833T>C	ClinVar
PIGA	P37287	p.His33Arg	rs797044924	missense variant	-	NC_000023.11:g.15331833T>C	-
PIGA	P37287	p.His33Tyr	rs1437373629	missense variant	-	NC_000023.11:g.15331834G>A	gnomAD
PIGA	P37287	p.Asn34Ser	rs765502766	missense variant	-	NC_000023.11:g.15331830T>C	ExAC,gnomAD
PIGA	P37287	p.Met37Thr	COSM1117848	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331821A>G	NCI-TCGA Cosmic
PIGA	P37287	p.Val38Ile	RCV000649037	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331819C>T	ClinVar
PIGA	P37287	p.Val38Ala	rs1057523626	missense variant	-	NC_000023.11:g.15331818A>G	-
PIGA	P37287	p.Val38Ala	RCV000419126	missense variant	-	NC_000023.11:g.15331818A>G	ClinVar
PIGA	P37287	p.Val38Ile	rs1555945533	missense variant	-	NC_000023.11:g.15331819C>T	-
PIGA	P37287	p.Asp40His	VAR_015436	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Gly48Ala	VAR_015437	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Gly48Asp	VAR_015438	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Gly48Val	VAR_015439	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Val49Met	RCV000761517	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331786C>T	ClinVar
PIGA	P37287	p.Ser51Asn	COSM1490678	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331779C>T	NCI-TCGA Cosmic
PIGA	P37287	p.Tyr54Cys	rs1323673031	missense variant	-	NC_000023.11:g.15331770T>C	gnomAD
PIGA	P37287	p.Gln55Ter	RCV000010639	nonsense	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331768G>A	ClinVar
PIGA	P37287	p.Gln55Ter	rs199422233	stop gained	-	NC_000023.11:g.15331768G>A	-
PIGA	P37287	p.Leu56Phe	NCI-TCGA novel	missense variant	-	chrX:g.15331765G>A	NCI-TCGA
PIGA	P37287	p.Ser57Cys	rs1160987921	missense variant	-	NC_000023.11:g.15331761G>C	TOPMed
PIGA	P37287	p.Gln58His	COSM6186036	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331757C>A	NCI-TCGA Cosmic
PIGA	P37287	p.Cys59Arg	rs759443446	missense variant	-	NC_000023.11:g.15331756A>G	ExAC,gnomAD
PIGA	P37287	p.Ile61Thr	rs1006798135	missense variant	-	NC_000023.11:g.15331749A>G	TOPMed
PIGA	P37287	p.Glu62Gly	rs774306554	missense variant	-	NC_000023.11:g.15331746T>C	ExAC,gnomAD
PIGA	P37287	p.Arg63Ser	rs766109827	missense variant	-	NC_000023.11:g.15331742T>A	ExAC,gnomAD
PIGA	P37287	p.Gly64Val	NCI-TCGA novel	missense variant	-	chrX:g.15331740C>A	NCI-TCGA
PIGA	P37287	p.Ile69Leu	COSM3844056	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331726T>G	NCI-TCGA Cosmic
PIGA	P37287	p.His72Arg	NCI-TCGA novel	missense variant	-	chrX:g.15331716T>C	NCI-TCGA
PIGA	P37287	p.Ala73Thr	rs769478872	missense variant	-	NC_000023.11:g.15331714C>T	ExAC,gnomAD
PIGA	P37287	p.Ala73Val	NCI-TCGA novel	missense variant	-	chrX:g.15331713G>A	NCI-TCGA
PIGA	P37287	p.Gly75Arg	rs1301200002	missense variant	-	NC_000023.11:g.15331708C>G	gnomAD
PIGA	P37287	p.Arg77Leu	RCV000119285	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331701C>A	ClinVar
PIGA	P37287	p.Arg77Leu	rs587777398	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331701C>A	ExAC
PIGA	P37287	p.Arg77Leu	rs587777398	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331701C>A	UniProt,dbSNP
PIGA	P37287	p.Arg77Leu	VAR_071069	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331701C>A	UniProt
PIGA	P37287	p.Arg77Gln	rs587777398	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331701C>T	ExAC
PIGA	P37287	p.Arg77Ter	COSM1117847	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.15331702G>A	NCI-TCGA Cosmic
PIGA	P37287	p.Lys78Glu	rs776182358	missense variant	-	NC_000023.11:g.15331699T>C	ExAC,gnomAD
PIGA	P37287	p.Lys78Glu	RCV000761571	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331699T>C	ClinVar
PIGA	P37287	p.Arg81His	COSM1117846	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331689C>T	NCI-TCGA Cosmic
PIGA	P37287	p.Arg81Cys	RCV000680065	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331690G>A	ClinVar
PIGA	P37287	p.Leu83Pro	RCV000768039	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331683A>G	ClinVar
PIGA	P37287	p.Leu83Val	rs1335237092	missense variant	-	NC_000023.11:g.15331684G>C	TOPMed
PIGA	P37287	p.Thr84Ala	rs768321389	missense variant	-	NC_000023.11:g.15331681T>C	ExAC,gnomAD
PIGA	P37287	p.Thr84Ter	RCV000010640	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331681_15331682insAC	ClinVar
PIGA	P37287	p.Leu87Ile	NCI-TCGA novel	missense variant	-	chrX:g.15331672G>T	NCI-TCGA
PIGA	P37287	p.Val89Ile	rs747478493	missense variant	-	NC_000023.11:g.15331666C>T	ExAC
PIGA	P37287	p.Tyr90Cys	rs1445335859	missense variant	-	NC_000023.11:g.15331662T>C	TOPMed
PIGA	P37287	p.Pro93Leu	rs587777400	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331653G>A	-
PIGA	P37287	p.Pro93Leu	rs587777400	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331653G>A	UniProt,dbSNP
PIGA	P37287	p.Pro93Leu	VAR_071070	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331653G>A	UniProt
PIGA	P37287	p.Pro93Leu	RCV000119288	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331653G>A	ClinVar
PIGA	P37287	p.Leu94Val	rs758769627	missense variant	-	NC_000023.11:g.15331651G>C	ExAC,gnomAD
PIGA	P37287	p.Val96Leu	rs146801580	missense variant	-	NC_000023.11:g.15331645C>G	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Met97Ile	rs779205409	missense variant	-	NC_000023.11:g.15331640C>A	ExAC,gnomAD
PIGA	P37287	p.Met97Ile	rs779205409	missense variant	-	NC_000023.11:g.15331640C>T	ExAC,gnomAD
PIGA	P37287	p.Tyr98Ter	RCV000010636	nonsense	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331637G>T	ClinVar
PIGA	P37287	p.Tyr98Ter	rs199422232	stop gained	-	NC_000023.11:g.15331637G>T	-
PIGA	P37287	p.Tyr98Cys	RCV000437982	missense variant	-	NC_000023.11:g.15331638T>C	ClinVar
PIGA	P37287	p.Tyr98Cys	rs1057523554	missense variant	-	NC_000023.11:g.15331638T>C	-
PIGA	P37287	p.Asn99Ile	rs1253408072	missense variant	-	NC_000023.11:g.15331635T>A	gnomAD
PIGA	P37287	p.Asn99His	rs1241615240	missense variant	-	NC_000023.11:g.15331636T>G	TOPMed
PIGA	P37287	p.Gln100His	rs757482806	missense variant	-	NC_000023.11:g.15331631C>A	ExAC,gnomAD
PIGA	P37287	p.Thr102Ala	rs1307025325	missense variant	-	NC_000023.11:g.15331627T>C	TOPMed
PIGA	P37287	p.Thr102Ile	rs754050083	missense variant	-	NC_000023.11:g.15331626G>A	ExAC,gnomAD
PIGA	P37287	p.Ala103Thr	RCV000554054	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331624C>T	ClinVar
PIGA	P37287	p.Ala103Val	rs756212857	missense variant	-	chrX:g.15331623G>A	NCI-TCGA
PIGA	P37287	p.Ala103Thr	rs777795093	missense variant	-	NC_000023.11:g.15331624C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ala103Thr	RCV000523605	missense variant	-	NC_000023.11:g.15331624C>T	ClinVar
PIGA	P37287	p.Ala103Val	rs756212857	missense variant	-	NC_000023.11:g.15331623G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Thr104Met	NCI-TCGA novel	missense variant	-	chrX:g.15331620G>A	NCI-TCGA
PIGA	P37287	p.Leu110Val	rs751436894	missense variant	-	NC_000023.11:g.15331603G>C	ExAC,gnomAD
PIGA	P37287	p.Arg114Ser	RCV000692952	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331589C>A	ClinVar
PIGA	P37287	p.Ile116Met	RCV000530217	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331583T>C	ClinVar
PIGA	P37287	p.Ile116Met	rs1555945484	missense variant	-	NC_000023.11:g.15331583T>C	-
PIGA	P37287	p.Arg119Trp	RCV000443275	missense variant	-	NC_000023.11:g.15331576G>A	ClinVar
PIGA	P37287	p.Arg119Trp	rs587777396	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331576G>A	UniProt,dbSNP
PIGA	P37287	p.Arg119Trp	VAR_071071	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331576G>A	UniProt
PIGA	P37287	p.Thr123Met	rs1555945480	missense variant	-	NC_000023.11:g.15331563G>A	-
PIGA	P37287	p.Thr123Met	RCV000497905	missense variant	-	NC_000023.11:g.15331563G>A	ClinVar
PIGA	P37287	p.Ile124Val	rs762862377	missense variant	-	NC_000023.11:g.15331561T>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.His128Arg	VAR_015440	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Ser132Cys	rs1060499625	missense variant	-	NC_000023.11:g.15331536G>C	-
PIGA	P37287	p.Ser132Tyr	COSM1117844	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331536G>T	NCI-TCGA Cosmic
PIGA	P37287	p.Ser132Cys	RCV000445622	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331536G>C	ClinVar
PIGA	P37287	p.Ala135Thr	COSM4840782	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331528C>T	NCI-TCGA Cosmic
PIGA	P37287	p.Ala135Val	VAR_078230	Missense	-	-	UniProt
PIGA	P37287	p.Ala142Thr	RCV000731506	missense variant	-	NC_000023.11:g.15331507C>T	ClinVar
PIGA	P37287	p.Ala142Thr	COSM1466578	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331507C>T	NCI-TCGA Cosmic
PIGA	P37287	p.Lys143Gln	rs764988988	missense variant	-	NC_000023.11:g.15331504T>G	ExAC,gnomAD
PIGA	P37287	p.Thr144Ter	RCV000010641	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331500del	ClinVar
PIGA	P37287	p.Thr152Met	COSM4819305	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331476G>A	NCI-TCGA Cosmic
PIGA	P37287	p.His154Ter	RCV000010637	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331471_15331472insT	ClinVar
PIGA	P37287	p.His154IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.15331471_15331472insAAAT	NCI-TCGA
PIGA	P37287	p.Ser155Phe	VAR_005531	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Asp161Tyr	RCV000697028	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331450C>A	ClinVar
PIGA	P37287	p.Val165Leu	rs760266545	missense variant	-	NC_000023.11:g.15331438C>A	ExAC,gnomAD
PIGA	P37287	p.Thr167Ala	rs775206996	missense variant	-	NC_000023.11:g.15331432T>C	ExAC,gnomAD
PIGA	P37287	p.Lys169Met	rs746412962	missense variant	-	NC_000023.11:g.15331425T>A	ExAC
PIGA	P37287	p.Lys169Asn	rs779308669	missense variant	-	NC_000023.11:g.15331424C>G	ExAC,gnomAD
PIGA	P37287	p.Lys169Glu	rs772695695	missense variant	-	NC_000023.11:g.15331426T>C	ExAC,gnomAD
PIGA	P37287	p.Thr172Ala	rs375707235	missense variant	-	NC_000023.11:g.15331417T>C	ESP,TOPMed
PIGA	P37287	p.Val173Leu	rs752395232	missense variant	-	NC_000023.11:g.15331414C>G	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Val173Met	rs752395232	missense variant	-	NC_000023.11:g.15331414C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Cys176Arg	rs371466959	missense variant	-	NC_000023.11:g.15331405A>G	ESP,ExAC,gnomAD
PIGA	P37287	p.Cys176Gly	rs371466959	missense variant	-	NC_000023.11:g.15331405A>C	ESP,ExAC,gnomAD
PIGA	P37287	p.Thr178Ala	rs1487939839	missense variant	-	NC_000023.11:g.15331399T>C	TOPMed,gnomAD
PIGA	P37287	p.Cys183Tyr	COSM120034	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331383C>T	NCI-TCGA Cosmic
PIGA	P37287	p.Ser185Tyr	NCI-TCGA novel	missense variant	-	chrX:g.15331377G>T	NCI-TCGA
PIGA	P37287	p.Tyr186Ter	NCI-TCGA novel	stop gained	-	chrX:g.15331373A>T	NCI-TCGA
PIGA	P37287	p.Val193Ala	rs1224466602	missense variant	-	NC_000023.11:g.15331353A>G	gnomAD
PIGA	P37287	p.Ala196Gly	NCI-TCGA novel	missense variant	-	chrX:g.15331344G>C	NCI-TCGA
PIGA	P37287	p.Val205Ile	rs1064796260	missense variant	-	NC_000023.11:g.15331318C>T	-
PIGA	P37287	p.Val205Ile	RCV000480917	missense variant	-	NC_000023.11:g.15331318C>T	ClinVar
PIGA	P37287	p.Ile206Phe	rs201119959	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331315T>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ile206Phe	rs201119959	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331315T>A	UniProt,dbSNP
PIGA	P37287	p.Ile206Phe	VAR_071072	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331315T>A	UniProt
PIGA	P37287	p.Ile206Phe	rs201119959	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331315T>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ile206Val	rs201119959	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331315T>C	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ile206Phe	RCV000119286	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331315T>A	ClinVar
PIGA	P37287	p.Ile206Val	RCV000484035	missense variant	-	NC_000023.11:g.15331315T>C	ClinVar
PIGA	P37287	p.Ile206Val	RCV000720329	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15331315T>C	ClinVar
PIGA	P37287	p.Pro207Ser	NCI-TCGA novel	missense variant	-	chrX:g.15331312G>A	NCI-TCGA
PIGA	P37287	p.Thr213Ser	rs1280193379	missense variant	-	NC_000023.11:g.15331293G>C	gnomAD
PIGA	P37287	p.Thr213Ile	NCI-TCGA novel	missense variant	-	chrX:g.15331293G>A	NCI-TCGA
PIGA	P37287	p.Phe220Ser	rs750365775	missense variant	-	NC_000023.11:g.15331272A>G	ExAC,gnomAD
PIGA	P37287	p.Arg222Lys	rs761674703	missense variant	-	NC_000023.11:g.15331266C>T	TOPMed,gnomAD
PIGA	P37287	p.Ser225Gly	rs761535527	missense variant	-	NC_000023.11:g.15331258T>C	ExAC,gnomAD
PIGA	P37287	p.Ile228Val	rs753475633	missense variant	-	NC_000023.11:g.15331249T>C	ExAC,gnomAD
PIGA	P37287	p.Ile228Ser	COSM1117840	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331248A>C	NCI-TCGA Cosmic
PIGA	P37287	p.Ser232Thr	rs1462199347	missense variant	-	NC_000023.11:g.15331236C>G	gnomAD
PIGA	P37287	p.Val235Phe	rs1167922402	missense variant	-	NC_000023.11:g.15331228C>A	TOPMed,gnomAD
PIGA	P37287	p.Gly239Arg	VAR_015441	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Ile240Thr	rs1182258622	missense variant	-	NC_000023.11:g.15326043A>G	gnomAD
PIGA	P37287	p.Asp241Asn	COSM1117829	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15326041C>T	NCI-TCGA Cosmic
PIGA	P37287	p.Ser244Asn	NCI-TCGA novel	missense variant	-	chrX:g.15326031C>T	NCI-TCGA
PIGA	P37287	p.Ile246Thr	rs1303065033	missense variant	-	NC_000023.11:g.15326025A>G	TOPMed
PIGA	P37287	p.Ile247Met	rs757286803	missense variant	-	NC_000023.11:g.15326021T>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Glu249Asp	rs1230367344	missense variant	-	NC_000023.11:g.15326015T>A	TOPMed
PIGA	P37287	p.Leu250Val	rs753672974	missense variant	-	NC_000023.11:g.15326014G>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Tyr254Cys	RCV000649038	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15326001T>C	ClinVar
PIGA	P37287	p.Tyr254Cys	rs1279450118	missense variant	-	NC_000023.11:g.15326001T>C	gnomAD
PIGA	P37287	p.Pro255Thr	NCI-TCGA novel	missense variant	-	chrX:g.15325999G>T	NCI-TCGA
PIGA	P37287	p.Asp256Asn	rs764031509	missense variant	-	NC_000023.11:g.15325996C>T	ExAC,gnomAD
PIGA	P37287	p.Ile260Val	rs1255714003	missense variant	-	NC_000023.11:g.15325984T>C	gnomAD
PIGA	P37287	p.Ile260Val	NCI-TCGA novel	missense variant	-	chrX:g.15325984T>C	NCI-TCGA
PIGA	P37287	p.Glu264Lys	rs755799077	missense variant	-	NC_000023.11:g.15325972C>T	ExAC,gnomAD
PIGA	P37287	p.Lys267Thr	NCI-TCGA novel	missense variant	-	chrX:g.15325962T>G	NCI-TCGA
PIGA	P37287	p.Arg268Ile	COSM1117828	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15325959C>A	NCI-TCGA Cosmic
PIGA	P37287	p.Arg275Trp	rs1057524256	missense variant	-	NC_000023.11:g.15325939G>A	-
PIGA	P37287	p.Arg275Trp	RCV000720177	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15325939G>A	ClinVar
PIGA	P37287	p.Arg275Trp	COSM5910071	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15325939G>A	NCI-TCGA Cosmic
PIGA	P37287	p.Arg275Trp	RCV000429633	missense variant	-	NC_000023.11:g.15325939G>A	ClinVar
PIGA	P37287	p.Glu276Lys	NCI-TCGA novel	missense variant	-	chrX:g.15325936C>T	NCI-TCGA
PIGA	P37287	p.His281Arg	NCI-TCGA novel	missense variant	-	chrX:g.15325920T>C	NCI-TCGA
PIGA	P37287	p.Asp282Asn	NCI-TCGA novel	missense variant	-	chrX:g.15325918C>T	NCI-TCGA
PIGA	P37287	p.Val284Leu	rs886166122	missense variant	-	NC_000023.11:g.15325151C>A	TOPMed,gnomAD
PIGA	P37287	p.Arg285His	RCV000694082	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15325147C>T	ClinVar
PIGA	P37287	p.His292Tyr	COSM3844051	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15325127G>A	NCI-TCGA Cosmic
PIGA	P37287	p.Lys293Glu	RCV000530991	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15325124T>C	ClinVar
PIGA	P37287	p.Lys293Glu	rs202161781	missense variant	-	NC_000023.11:g.15325124T>C	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Asn297Asp	VAR_005532	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.His303Gln	rs1297363297	missense variant	-	NC_000023.11:g.15325092A>C	gnomAD
PIGA	P37287	p.His303Arg	rs139991272	missense variant	-	NC_000023.11:g.15325093T>C	ESP,ExAC,gnomAD
PIGA	P37287	p.His303Pro	rs139991272	missense variant	-	NC_000023.11:g.15325093T>G	ESP,ExAC,gnomAD
PIGA	P37287	p.Ile304Val	rs1419267139	missense variant	-	NC_000023.11:g.15325091T>C	gnomAD
PIGA	P37287	p.Ala317Val	rs201873136	missense variant	-	NC_000023.11:g.15325051G>A	1000Genomes,ExAC,gnomAD
PIGA	P37287	p.Ile318Met	rs1353341156	missense variant	-	NC_000023.11:g.15325047G>C	TOPMed
PIGA	P37287	p.Val319Leu	rs765961204	missense variant	-	chrX:g.15325046C>A	NCI-TCGA,NCI-TCGA Cosmic
PIGA	P37287	p.Val319Leu	rs765961204	missense variant	-	NC_000023.11:g.15325046C>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Val319Met	rs765961204	missense variant	-	NC_000023.11:g.15325046C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Leu340Phe	rs1405328406	missense variant	-	NC_000023.11:g.15324835G>A	gnomAD
PIGA	P37287	p.Leu344Arg	rs761007687	missense variant	-	NC_000023.11:g.15324822A>C	ExAC,gnomAD
PIGA	P37287	p.Leu344Pro	rs761007687	missense variant	-	NC_000023.11:g.15324822A>G	ExAC,gnomAD
PIGA	P37287	p.Leu344Pro	RCV000512946	missense variant	-	NC_000023.11:g.15324822A>G	ClinVar
PIGA	P37287	p.Leu344Phe	NCI-TCGA novel	missense variant	-	chrX:g.15324823G>A	NCI-TCGA
PIGA	P37287	p.Leu344del	VAR_071073	inframe_deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]	-	UniProt
PIGA	P37287	p.Ile346Met	rs377145946	missense variant	-	NC_000023.11:g.15324815A>C	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Leu347Val	NCI-TCGA novel	missense variant	-	chrX:g.15324814A>C	NCI-TCGA
PIGA	P37287	p.Cys348Phe	NCI-TCGA novel	missense variant	-	chrX:g.15324810C>A	NCI-TCGA
PIGA	P37287	p.Glu349Gly	rs1174537633	missense variant	-	NC_000023.11:g.15324807T>C	TOPMed
PIGA	P37287	p.Pro350Ser	rs372966902	missense variant	-	NC_000023.11:g.15324805G>A	ESP,ExAC,gnomAD
PIGA	P37287	p.Pro350Ser	RCV000528864	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15324805G>A	ClinVar
PIGA	P37287	p.Pro350Thr	NCI-TCGA novel	missense variant	-	chrX:g.15324805G>T	NCI-TCGA
PIGA	P37287	p.Pro350Ser	RCV000766085	missense variant	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15324805G>A	ClinVar
PIGA	P37287	p.Lys353Arg	rs749191978	missense variant	-	NC_000023.11:g.15324795T>C	ExAC,gnomAD
PIGA	P37287	p.Lys353Gln	COSM1117827	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15324796T>G	NCI-TCGA Cosmic
PIGA	P37287	p.Leu355Met	rs1422087971	missense variant	-	NC_000023.11:g.15324790A>T	gnomAD
PIGA	P37287	p.Leu355Ser	VAR_078721	Missense	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]	-	UniProt
PIGA	P37287	p.Lys361Asn	NCI-TCGA novel	missense variant	-	chrX:g.15324770C>A	NCI-TCGA
PIGA	P37287	p.Ala362Ser	rs1193658978	missense variant	-	NC_000023.11:g.15324769C>A	gnomAD
PIGA	P37287	p.Ser368Ter	NCI-TCGA novel	stop gained	-	chrX:g.15324750G>C	NCI-TCGA
PIGA	P37287	p.Pro372Ter	RCV000010638	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15324739del	ClinVar
PIGA	P37287	p.Asn376Asp	rs1478543261	missense variant	-	NC_000023.11:g.15324727T>C	gnomAD
PIGA	P37287	p.Asn376His	NCI-TCGA novel	missense variant	-	chrX:g.15324727T>G	NCI-TCGA
PIGA	P37287	p.Ile377Phe	COSM4108040	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15324724T>A	NCI-TCGA Cosmic
PIGA	P37287	p.Ile380Thr	rs768749706	missense variant	-	chrX:g.15324714A>G	NCI-TCGA,NCI-TCGA Cosmic
PIGA	P37287	p.Ile380Thr	rs768749706	missense variant	-	NC_000023.11:g.15324714A>G	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ile380Met	NCI-TCGA novel	missense variant	-	chrX:g.15324713T>C	NCI-TCGA
PIGA	P37287	p.Arg388Lys	rs747894664	missense variant	-	NC_000023.11:g.15324690C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg393Lys	rs978567788	missense variant	-	NC_000023.11:g.15324675C>T	TOPMed
PIGA	P37287	p.Arg393Gly	rs781095752	missense variant	-	NC_000023.11:g.15324676T>C	ExAC,gnomAD
PIGA	P37287	p.Glu395Lys	rs1060499666	missense variant	-	NC_000023.11:g.15324670C>T	-
PIGA	P37287	p.Glu395Lys	RCV000449490	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15324670C>T	ClinVar
PIGA	P37287	p.Arg400Trp	rs772225061	missense variant	-	NC_000023.11:g.15321763G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg400Trp	RCV000520216	missense variant	-	NC_000023.11:g.15321763G>A	ClinVar
PIGA	P37287	p.Val401Leu	rs759697480	missense variant	-	NC_000023.11:g.15321760C>G	ExAC,gnomAD
PIGA	P37287	p.Val401Leu	rs759697480	missense variant	-	NC_000023.11:g.15321760C>A	ExAC,gnomAD
PIGA	P37287	p.Val401Glu	rs794727790	missense variant	-	NC_000023.11:g.15321759A>T	-
PIGA	P37287	p.Val401Glu	RCV000179409	missense variant	-	NC_000023.11:g.15321759A>T	ClinVar
PIGA	P37287	p.Ser402Leu	rs774644659	missense variant	-	chrX:g.15321756G>A	NCI-TCGA
PIGA	P37287	p.Ser402Ala	rs192475811	missense variant	-	NC_000023.11:g.15321757A>C	1000Genomes,TOPMed
PIGA	P37287	p.Ser402Leu	rs774644659	missense variant	-	NC_000023.11:g.15321756G>A	ExAC,gnomAD
PIGA	P37287	p.Glu404Lys	rs1313883658	missense variant	-	NC_000023.11:g.15321751C>T	gnomAD
PIGA	P37287	p.Ala405Val	rs201361742	missense variant	-	NC_000023.11:g.15321747G>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ala405Val	RCV000541463	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321747G>A	ClinVar
PIGA	P37287	p.Pro408Leu	rs914087630	missense variant	-	NC_000023.11:g.15321738G>A	TOPMed
PIGA	P37287	p.Pro408Ser	rs1314103115	missense variant	-	NC_000023.11:g.15321739G>A	TOPMed
PIGA	P37287	p.Met409Lys	rs1243499829	missense variant	-	NC_000023.11:g.15321735A>T	TOPMed
PIGA	P37287	p.Met409Ile	rs780815350	missense variant	-	NC_000023.11:g.15321734C>T	ExAC,gnomAD
PIGA	P37287	p.Arg412Ter	rs387906726	stop gained	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15321727G>A	-
PIGA	P37287	p.Arg412Ter	RCV000022881	nonsense	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321727G>A	ClinVar
PIGA	P37287	p.Asp414Asn	rs768524297	missense variant	-	NC_000023.11:g.15321721C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Asp414His	rs768524297	missense variant	-	NC_000023.11:g.15321721C>G	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Leu416Ile	rs1449341363	missense variant	-	NC_000023.11:g.15321715G>T	gnomAD
PIGA	P37287	p.His419Tyr	rs746591138	missense variant	-	NC_000023.11:g.15321706G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Gly421Ser	rs771058274	missense variant	-	NC_000023.11:g.15321700C>T	ExAC,gnomAD
PIGA	P37287	p.Ile427Val	rs757835670	missense variant	-	NC_000023.11:g.15321682T>C	ExAC,gnomAD
PIGA	P37287	p.Ala432Thr	rs1361394188	missense variant	-	NC_000023.11:g.15321667C>T	gnomAD
PIGA	P37287	p.Val433Ile	rs139149663	missense variant	-	NC_000023.11:g.15321664C>T	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ile440Thr	rs749080220	missense variant	-	NC_000023.11:g.15321642A>G	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Phe441Tyr	COSM1117808	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15321639A>T	NCI-TCGA Cosmic
PIGA	P37287	p.Leu442Ter	RCV000010642	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15321638_15321639del	ClinVar
PIGA	P37287	p.LeuArgTrpMetThrProAspSerIleIleAsp442LeuArgTrpMetThrProAspSerIleIleGluIleGluMetAspAspSerArgPheTyrHisTerUnk	rs786200912	stop gained	-	NC_000023.11:g.15321637_15321638insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA	-
PIGA	P37287	p.Trp444Cys	COSM6186045	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15321629C>G	NCI-TCGA Cosmic
PIGA	P37287	p.Thr446Ile	rs754401169	missense variant	-	NC_000023.11:g.15321624G>A	ExAC,gnomAD
PIGA	P37287	p.Ser449Tyr	NCI-TCGA novel	missense variant	-	chrX:g.15321615G>T	NCI-TCGA
PIGA	P37287	p.Asp452GluIleGluMetAspAspSerArgPheTyrHisTer	RCV000010644	nonsense	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15321637_15321638insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA	ClinVar
PIGA	P37287	p.Val453Ala	rs1212223898	missense variant	-	NC_000023.11:g.15321603A>G	TOPMed
PIGA	P37287	p.Asp456Asn	rs201783559	missense variant	-	NC_000023.11:g.15321595C>T	1000Genomes,ExAC,gnomAD
PIGA	P37287	p.Ala457Thr	rs1440750558	missense variant	-	NC_000023.11:g.15321592C>T	TOPMed
PIGA	P37287	p.Ala457Pro	rs1440750558	missense variant	-	NC_000023.11:g.15321592C>G	TOPMed
PIGA	P37287	p.Ala457Thr	RCV000649036	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321592C>T	ClinVar
PIGA	P37287	p.Thr458Ser	rs1179561045	missense variant	-	NC_000023.11:g.15321588G>C	gnomAD
PIGA	P37287	p.Pro460Leu	rs1181949227	missense variant	-	NC_000023.11:g.15321582G>A	gnomAD
PIGA	P37287	p.Arg461Trp	rs752798208	missense variant	-	NC_000023.11:g.15321580G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg461Gln	RCV000624780	missense variant	Inborn genetic diseases	NC_000023.11:g.15321579C>T	ClinVar
PIGA	P37287	p.Arg461Gln	rs769061128	missense variant	-	NC_000023.11:g.15321579C>T	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ala463Thr	rs774546648	missense variant	-	NC_000023.11:g.15321574C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Trp464Ser	rs766602742	missense variant	-	NC_000023.11:g.15321570C>G	ExAC,gnomAD
PIGA	P37287	p.Tyr468Cys	rs761613346	missense variant	-	NC_000023.11:g.15321558T>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg473Thr	rs773189052	missense variant	-	NC_000023.11:g.15321543C>G	TOPMed,gnomAD
PIGA	P37287	p.Arg473Lys	rs773189052	missense variant	-	NC_000023.11:g.15321543C>T	TOPMed,gnomAD
PIGA	P37287	p.Gly474Glu	rs142772459	missense variant	-	NC_000023.11:g.15321540C>T	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Gly474Arg	RCV000649040	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321541C>T	ClinVar
PIGA	P37287	p.Gly474Arg	rs61760986	missense variant	-	NC_000023.11:g.15321541C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Gly474Val	rs142772459	missense variant	-	NC_000023.11:g.15321540C>A	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Gly475Asp	rs1301584122	missense variant	-	NC_000023.11:g.15321537C>T	TOPMed,gnomAD
PIGA	P37287	p.Glu476Gly	rs775330646	missense variant	-	NC_000023.11:g.15321534T>C	ExAC,gnomAD
PIGA	P37287	p.Asn478Lys	rs771690457	missense variant	-	NC_000023.11:g.15321527A>C	ExAC,gnomAD
PIGA	P37287	p.Ile480Met	NCI-TCGA novel	missense variant	-	chrX:g.15321521T>C	NCI-TCGA
PIGA	P37287	p.Thr483Ala	rs745560847	missense variant	-	NC_000023.11:g.15321514T>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Thr483Ala	RCV000649039	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321514T>C	ClinVar
PIGA	P37287	p.Arg484Lys	rs1362845230	missense variant	-	NC_000023.11:g.15321510C>T	gnomAD
PIGA	P37287	p.Ter485Trp	rs1283056919	stop lost	-	NC_000023.11:g.15321507T>C	TOPMed
PIGA	P37287	p.Cys3Arg	rs755718762	missense variant	-	NC_000023.11:g.15331924A>G	1000Genomes,ExAC,gnomAD
PIGA	P37287	p.Gly8Arg	rs1256797925	missense variant	-	NC_000023.11:g.15331909C>T	gnomAD
PIGA	P37287	p.His11Arg	rs748902332	missense variant	-	NC_000023.11:g.15331899T>C	ExAC,gnomAD
PIGA	P37287	p.Arg12Cys	rs201637489	missense variant	-	NC_000023.11:g.15331897G>A	TOPMed,gnomAD
PIGA	P37287	p.Arg12His	rs1380833875	missense variant	-	NC_000023.11:g.15331896C>T	TOPMed
PIGA	P37287	p.Ala15Thr	rs369608621	missense variant	-	NC_000023.11:g.15331888C>T	ESP,TOPMed,gnomAD
PIGA	P37287	p.Leu17Phe	rs1373760754	missense variant	-	NC_000023.11:g.15331882G>A	gnomAD
PIGA	P37287	p.Ser18Tyr	rs769125619	missense variant	-	NC_000023.11:g.15331878G>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ser18Phe	rs769125619	missense variant	-	NC_000023.11:g.15331878G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg19Trp	RCV000712538	missense variant	-	NC_000023.11:g.15331876G>A	ClinVar
PIGA	P37287	p.Arg19Gln	RCV000578232	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331875C>T	ClinVar
PIGA	P37287	p.Arg19Gln	rs1555945553	missense variant	-	NC_000023.11:g.15331875C>T	-
PIGA	P37287	p.Arg19Trp	RCV000716220	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15331876G>A	ClinVar
PIGA	P37287	p.Arg19Trp	RCV000554820	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331876G>A	ClinVar
PIGA	P37287	p.Arg19Trp	rs34422225	missense variant	-	NC_000023.11:g.15331876G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg19Trp	rs34422225	missense variant	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)	NC_000023.11:g.15331876G>A	UniProt,dbSNP
PIGA	P37287	p.Arg19Trp	VAR_015442	missense variant	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)	NC_000023.11:g.15331876G>A	UniProt
PIGA	P37287	p.Arg19Trp	RCV000428596	missense variant	-	NC_000023.11:g.15331876G>A	ClinVar
PIGA	P37287	p.Ser21Ile	RCV000413773	missense variant	-	NC_000023.11:g.15331869C>A	ClinVar
PIGA	P37287	p.Ser21Ile	rs1057518239	missense variant	-	NC_000023.11:g.15331869C>A	-
PIGA	P37287	p.Ser21Gly	rs375401655	missense variant	-	NC_000023.11:g.15331870T>C	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ser21Gly	RCV000718278	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15331870T>C	ClinVar
PIGA	P37287	p.Ser21Gly	RCV000712539	missense variant	-	NC_000023.11:g.15331870T>C	ClinVar
PIGA	P37287	p.Ser21Gly	RCV000694821	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331870T>C	ClinVar
PIGA	P37287	p.Pro22Leu	rs1470343850	missense variant	-	NC_000023.11:g.15331866G>A	gnomAD
PIGA	P37287	p.Pro22Ser	rs1330690637	missense variant	-	NC_000023.11:g.15331867G>A	gnomAD
PIGA	P37287	p.Ser24Ter	RCV000224623	frameshift	-	NC_000023.11:g.15331864dup	ClinVar
PIGA	P37287	p.Tyr26Asn	rs140606572	missense variant	-	NC_000023.11:g.15331855A>T	ESP,ExAC,TOPMed
PIGA	P37287	p.Tyr26Ter	RCV000119284	frameshift	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331857dup	ClinVar
PIGA	P37287	p.Thr27Ala	RCV000202879	missense variant	-	NC_000023.11:g.15331852T>C	ClinVar
PIGA	P37287	p.Thr27Ala	rs864309579	missense variant	-	NC_000023.11:g.15331852T>C	-
PIGA	P37287	p.Cys28Tyr	rs747568374	missense variant	-	NC_000023.11:g.15331848C>T	ExAC
PIGA	P37287	p.Arg29Gly	rs1414426904	missense variant	-	NC_000023.11:g.15331846T>C	gnomAD
PIGA	P37287	p.Arg31Cys	rs780532806	missense variant	-	NC_000023.11:g.15331840G>A	ExAC
PIGA	P37287	p.Arg31His	rs758863767	missense variant	-	NC_000023.11:g.15331839C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Thr32Ile	rs1473881207	missense variant	-	NC_000023.11:g.15331836G>A	TOPMed
PIGA	P37287	p.His33Arg	rs797044924	missense variant	-	NC_000023.11:g.15331833T>C	-
PIGA	P37287	p.His33Arg	RCV000190762	missense variant	Inborn genetic diseases	NC_000023.11:g.15331833T>C	ClinVar
PIGA	P37287	p.His33Tyr	rs1437373629	missense variant	-	NC_000023.11:g.15331834G>A	gnomAD
PIGA	P37287	p.Asn34Ser	rs765502766	missense variant	-	NC_000023.11:g.15331830T>C	ExAC,gnomAD
PIGA	P37287	p.Val38Ile	RCV000649037	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331819C>T	ClinVar
PIGA	P37287	p.Val38Ala	RCV000419126	missense variant	-	NC_000023.11:g.15331818A>G	ClinVar
PIGA	P37287	p.Val38Ala	rs1057523626	missense variant	-	NC_000023.11:g.15331818A>G	-
PIGA	P37287	p.Val38Ile	rs1555945533	missense variant	-	NC_000023.11:g.15331819C>T	-
PIGA	P37287	p.Asp40His	VAR_015436	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Gly48Val	VAR_015439	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Gly48Ala	VAR_015437	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Gly48Asp	VAR_015438	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Val49Met	RCV000761517	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331786C>T	ClinVar
PIGA	P37287	p.Tyr54Cys	rs1323673031	missense variant	-	NC_000023.11:g.15331770T>C	gnomAD
PIGA	P37287	p.Gln55Ter	RCV000010639	nonsense	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331768G>A	ClinVar
PIGA	P37287	p.Gln55Ter	rs199422233	stop gained	-	NC_000023.11:g.15331768G>A	-
PIGA	P37287	p.Ser57Cys	rs1160987921	missense variant	-	NC_000023.11:g.15331761G>C	TOPMed
PIGA	P37287	p.Cys59Arg	rs759443446	missense variant	-	NC_000023.11:g.15331756A>G	ExAC,gnomAD
PIGA	P37287	p.Ile61Thr	rs1006798135	missense variant	-	NC_000023.11:g.15331749A>G	TOPMed
PIGA	P37287	p.Glu62Gly	rs774306554	missense variant	-	NC_000023.11:g.15331746T>C	ExAC,gnomAD
PIGA	P37287	p.Arg63Ser	rs766109827	missense variant	-	NC_000023.11:g.15331742T>A	ExAC,gnomAD
PIGA	P37287	p.Ala73Thr	rs769478872	missense variant	-	NC_000023.11:g.15331714C>T	ExAC,gnomAD
PIGA	P37287	p.Gly75Arg	rs1301200002	missense variant	-	NC_000023.11:g.15331708C>G	gnomAD
PIGA	P37287	p.Arg77Leu	RCV000119285	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331701C>A	ClinVar
PIGA	P37287	p.Arg77Leu	rs587777398	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331701C>A	ExAC
PIGA	P37287	p.Arg77Leu	rs587777398	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331701C>A	UniProt,dbSNP
PIGA	P37287	p.Arg77Leu	VAR_071069	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331701C>A	UniProt
PIGA	P37287	p.Arg77Gln	rs587777398	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331701C>T	ExAC
PIGA	P37287	p.Lys78Glu	RCV000761571	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331699T>C	ClinVar
PIGA	P37287	p.Lys78Glu	rs776182358	missense variant	-	NC_000023.11:g.15331699T>C	ExAC,gnomAD
PIGA	P37287	p.Arg81Cys	RCV000680065	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331690G>A	ClinVar
PIGA	P37287	p.Leu83Pro	RCV000768039	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331683A>G	ClinVar
PIGA	P37287	p.Leu83Val	rs1335237092	missense variant	-	NC_000023.11:g.15331684G>C	TOPMed
PIGA	P37287	p.Thr84Ala	rs768321389	missense variant	-	NC_000023.11:g.15331681T>C	ExAC,gnomAD
PIGA	P37287	p.Thr84Ter	RCV000010640	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331681_15331682insAC	ClinVar
PIGA	P37287	p.Val89Ile	rs747478493	missense variant	-	NC_000023.11:g.15331666C>T	ExAC
PIGA	P37287	p.Tyr90Cys	rs1445335859	missense variant	-	NC_000023.11:g.15331662T>C	TOPMed
PIGA	P37287	p.Pro93Leu	rs587777400	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331653G>A	UniProt,dbSNP
PIGA	P37287	p.Pro93Leu	VAR_071070	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331653G>A	UniProt
PIGA	P37287	p.Pro93Leu	rs587777400	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331653G>A	-
PIGA	P37287	p.Pro93Leu	RCV000119288	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331653G>A	ClinVar
PIGA	P37287	p.Leu94Val	rs758769627	missense variant	-	NC_000023.11:g.15331651G>C	ExAC,gnomAD
PIGA	P37287	p.Val96Leu	rs146801580	missense variant	-	NC_000023.11:g.15331645C>G	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Met97Ile	rs779205409	missense variant	-	NC_000023.11:g.15331640C>A	ExAC,gnomAD
PIGA	P37287	p.Met97Ile	rs779205409	missense variant	-	NC_000023.11:g.15331640C>T	ExAC,gnomAD
PIGA	P37287	p.Tyr98Ter	RCV000010636	nonsense	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331637G>T	ClinVar
PIGA	P37287	p.Tyr98Ter	rs199422232	stop gained	-	NC_000023.11:g.15331637G>T	-
PIGA	P37287	p.Tyr98Cys	RCV000437982	missense variant	-	NC_000023.11:g.15331638T>C	ClinVar
PIGA	P37287	p.Tyr98Cys	rs1057523554	missense variant	-	NC_000023.11:g.15331638T>C	-
PIGA	P37287	p.Asn99His	rs1241615240	missense variant	-	NC_000023.11:g.15331636T>G	TOPMed
PIGA	P37287	p.Asn99Ile	rs1253408072	missense variant	-	NC_000023.11:g.15331635T>A	gnomAD
PIGA	P37287	p.Gln100His	rs757482806	missense variant	-	NC_000023.11:g.15331631C>A	ExAC,gnomAD
PIGA	P37287	p.Thr102Ala	rs1307025325	missense variant	-	NC_000023.11:g.15331627T>C	TOPMed
PIGA	P37287	p.Thr102Ile	rs754050083	missense variant	-	NC_000023.11:g.15331626G>A	ExAC,gnomAD
PIGA	P37287	p.Ala103Thr	RCV000554054	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331624C>T	ClinVar
PIGA	P37287	p.Ala103Thr	rs777795093	missense variant	-	NC_000023.11:g.15331624C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ala103Thr	RCV000523605	missense variant	-	NC_000023.11:g.15331624C>T	ClinVar
PIGA	P37287	p.Ala103Val	rs756212857	missense variant	-	NC_000023.11:g.15331623G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Leu110Val	rs751436894	missense variant	-	NC_000023.11:g.15331603G>C	ExAC,gnomAD
PIGA	P37287	p.Arg114Ser	RCV000692952	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331589C>A	ClinVar
PIGA	P37287	p.Ile116Met	RCV000530217	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331583T>C	ClinVar
PIGA	P37287	p.Ile116Met	rs1555945484	missense variant	-	NC_000023.11:g.15331583T>C	-
PIGA	P37287	p.Arg119Trp	RCV000443275	missense variant	-	NC_000023.11:g.15331576G>A	ClinVar
PIGA	P37287	p.Arg119Trp	rs587777396	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331576G>A	-
PIGA	P37287	p.Arg119Trp	rs587777396	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331576G>A	UniProt,dbSNP
PIGA	P37287	p.Arg119Trp	VAR_071071	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331576G>A	UniProt
PIGA	P37287	p.Thr123Met	RCV000497905	missense variant	-	NC_000023.11:g.15331563G>A	ClinVar
PIGA	P37287	p.Thr123Met	rs1555945480	missense variant	-	NC_000023.11:g.15331563G>A	-
PIGA	P37287	p.Ile124Val	rs762862377	missense variant	-	NC_000023.11:g.15331561T>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.His128Arg	VAR_015440	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Ser132Cys	rs1060499625	missense variant	-	NC_000023.11:g.15331536G>C	-
PIGA	P37287	p.Ser132Cys	RCV000445622	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331536G>C	ClinVar
PIGA	P37287	p.Ala135Val	VAR_078230	Missense	-	-	UniProt
PIGA	P37287	p.Ala142Thr	RCV000731506	missense variant	-	NC_000023.11:g.15331507C>T	ClinVar
PIGA	P37287	p.Lys143Gln	rs764988988	missense variant	-	NC_000023.11:g.15331504T>G	ExAC,gnomAD
PIGA	P37287	p.Thr144Ter	RCV000010641	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331500del	ClinVar
PIGA	P37287	p.His154Ter	RCV000010637	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331471_15331472insT	ClinVar
PIGA	P37287	p.Ser155Phe	VAR_005531	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Asp161Tyr	RCV000697028	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331450C>A	ClinVar
PIGA	P37287	p.Val165Leu	rs760266545	missense variant	-	NC_000023.11:g.15331438C>A	ExAC,gnomAD
PIGA	P37287	p.Thr167Ala	rs775206996	missense variant	-	NC_000023.11:g.15331432T>C	ExAC,gnomAD
PIGA	P37287	p.Lys169Asn	rs779308669	missense variant	-	NC_000023.11:g.15331424C>G	ExAC,gnomAD
PIGA	P37287	p.Lys169Glu	rs772695695	missense variant	-	NC_000023.11:g.15331426T>C	ExAC,gnomAD
PIGA	P37287	p.Lys169Met	rs746412962	missense variant	-	NC_000023.11:g.15331425T>A	ExAC
PIGA	P37287	p.Thr172Ala	rs375707235	missense variant	-	NC_000023.11:g.15331417T>C	ESP,TOPMed
PIGA	P37287	p.Val173Leu	rs752395232	missense variant	-	NC_000023.11:g.15331414C>G	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Val173Met	rs752395232	missense variant	-	NC_000023.11:g.15331414C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Cys176Gly	rs371466959	missense variant	-	NC_000023.11:g.15331405A>C	ESP,ExAC,gnomAD
PIGA	P37287	p.Cys176Arg	rs371466959	missense variant	-	NC_000023.11:g.15331405A>G	ESP,ExAC,gnomAD
PIGA	P37287	p.Thr178Ala	rs1487939839	missense variant	-	NC_000023.11:g.15331399T>C	TOPMed,gnomAD
PIGA	P37287	p.Val193Ala	rs1224466602	missense variant	-	NC_000023.11:g.15331353A>G	gnomAD
PIGA	P37287	p.Val205Ile	rs1064796260	missense variant	-	NC_000023.11:g.15331318C>T	-
PIGA	P37287	p.Val205Ile	RCV000480917	missense variant	-	NC_000023.11:g.15331318C>T	ClinVar
PIGA	P37287	p.Ile206Phe	rs201119959	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331315T>A	UniProt,dbSNP
PIGA	P37287	p.Ile206Phe	VAR_071072	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331315T>A	UniProt
PIGA	P37287	p.Ile206Phe	rs201119959	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331315T>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ile206Val	rs201119959	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331315T>C	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ile206Phe	RCV000119286	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331315T>A	ClinVar
PIGA	P37287	p.Ile206Val	RCV000720329	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15331315T>C	ClinVar
PIGA	P37287	p.Ile206Val	RCV000484035	missense variant	-	NC_000023.11:g.15331315T>C	ClinVar
PIGA	P37287	p.Thr213Ser	rs1280193379	missense variant	-	NC_000023.11:g.15331293G>C	gnomAD
PIGA	P37287	p.Phe220Ser	rs750365775	missense variant	-	NC_000023.11:g.15331272A>G	ExAC,gnomAD
PIGA	P37287	p.Arg222Lys	rs761674703	missense variant	-	NC_000023.11:g.15331266C>T	TOPMed,gnomAD
PIGA	P37287	p.Ser225Gly	rs761535527	missense variant	-	NC_000023.11:g.15331258T>C	ExAC,gnomAD
PIGA	P37287	p.Ile228Val	rs753475633	missense variant	-	NC_000023.11:g.15331249T>C	ExAC,gnomAD
PIGA	P37287	p.Ser232Thr	rs1462199347	missense variant	-	NC_000023.11:g.15331236C>G	gnomAD
PIGA	P37287	p.Val235Phe	rs1167922402	missense variant	-	NC_000023.11:g.15331228C>A	TOPMed,gnomAD
PIGA	P37287	p.Gly239Arg	VAR_015441	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.Ile240Thr	rs1182258622	missense variant	-	NC_000023.11:g.15326043A>G	gnomAD
PIGA	P37287	p.Ile246Thr	rs1303065033	missense variant	-	NC_000023.11:g.15326025A>G	TOPMed
PIGA	P37287	p.Ile247Met	rs757286803	missense variant	-	NC_000023.11:g.15326021T>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Glu249Asp	rs1230367344	missense variant	-	NC_000023.11:g.15326015T>A	TOPMed
PIGA	P37287	p.Leu250Val	rs753672974	missense variant	-	NC_000023.11:g.15326014G>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Tyr254Cys	RCV000649038	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15326001T>C	ClinVar
PIGA	P37287	p.Tyr254Cys	rs1279450118	missense variant	-	NC_000023.11:g.15326001T>C	gnomAD
PIGA	P37287	p.Asp256Asn	rs764031509	missense variant	-	NC_000023.11:g.15325996C>T	ExAC,gnomAD
PIGA	P37287	p.Ile260Val	rs1255714003	missense variant	-	NC_000023.11:g.15325984T>C	gnomAD
PIGA	P37287	p.Glu264Lys	rs755799077	missense variant	-	NC_000023.11:g.15325972C>T	ExAC,gnomAD
PIGA	P37287	p.Arg275Trp	RCV000720177	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15325939G>A	ClinVar
PIGA	P37287	p.Arg275Trp	rs1057524256	missense variant	-	NC_000023.11:g.15325939G>A	-
PIGA	P37287	p.Arg275Trp	RCV000429633	missense variant	-	NC_000023.11:g.15325939G>A	ClinVar
PIGA	P37287	p.Val284Leu	rs886166122	missense variant	-	NC_000023.11:g.15325151C>A	TOPMed,gnomAD
PIGA	P37287	p.Arg285His	RCV000694082	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15325147C>T	ClinVar
PIGA	P37287	p.Lys293Glu	RCV000530991	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15325124T>C	ClinVar
PIGA	P37287	p.Lys293Glu	rs202161781	missense variant	-	NC_000023.11:g.15325124T>C	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Asn297Asp	VAR_005532	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
PIGA	P37287	p.His303Gln	rs1297363297	missense variant	-	NC_000023.11:g.15325092A>C	gnomAD
PIGA	P37287	p.His303Arg	rs139991272	missense variant	-	NC_000023.11:g.15325093T>C	ESP,ExAC,gnomAD
PIGA	P37287	p.His303Pro	rs139991272	missense variant	-	NC_000023.11:g.15325093T>G	ESP,ExAC,gnomAD
PIGA	P37287	p.Ile304Val	rs1419267139	missense variant	-	NC_000023.11:g.15325091T>C	gnomAD
PIGA	P37287	p.Ala317Val	rs201873136	missense variant	-	NC_000023.11:g.15325051G>A	1000Genomes,ExAC,gnomAD
PIGA	P37287	p.Ile318Met	rs1353341156	missense variant	-	NC_000023.11:g.15325047G>C	TOPMed
PIGA	P37287	p.Val319Leu	rs765961204	missense variant	-	NC_000023.11:g.15325046C>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Val319Met	rs765961204	missense variant	-	NC_000023.11:g.15325046C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Leu340Phe	rs1405328406	missense variant	-	NC_000023.11:g.15324835G>A	gnomAD
PIGA	P37287	p.Leu344Pro	RCV000512946	missense variant	-	NC_000023.11:g.15324822A>G	ClinVar
PIGA	P37287	p.Leu344Arg	rs761007687	missense variant	-	NC_000023.11:g.15324822A>C	ExAC,gnomAD
PIGA	P37287	p.Leu344Pro	rs761007687	missense variant	-	NC_000023.11:g.15324822A>G	ExAC,gnomAD
PIGA	P37287	p.Leu344del	VAR_071073	inframe_deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]	-	UniProt
PIGA	P37287	p.Ile346Met	rs377145946	missense variant	-	NC_000023.11:g.15324815A>C	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Glu349Gly	rs1174537633	missense variant	-	NC_000023.11:g.15324807T>C	TOPMed
PIGA	P37287	p.Pro350Ser	rs372966902	missense variant	-	NC_000023.11:g.15324805G>A	ESP,ExAC,gnomAD
PIGA	P37287	p.Pro350Ser	RCV000528864	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15324805G>A	ClinVar
PIGA	P37287	p.Pro350Ser	RCV000766085	missense variant	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15324805G>A	ClinVar
PIGA	P37287	p.Lys353Arg	rs749191978	missense variant	-	NC_000023.11:g.15324795T>C	ExAC,gnomAD
PIGA	P37287	p.Leu355Met	rs1422087971	missense variant	-	NC_000023.11:g.15324790A>T	gnomAD
PIGA	P37287	p.Leu355Ser	VAR_078721	Missense	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]	-	UniProt
PIGA	P37287	p.Ala362Ser	rs1193658978	missense variant	-	NC_000023.11:g.15324769C>A	gnomAD
PIGA	P37287	p.Pro372Ter	RCV000010638	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15324739del	ClinVar
PIGA	P37287	p.Asn376Asp	rs1478543261	missense variant	-	NC_000023.11:g.15324727T>C	gnomAD
PIGA	P37287	p.Ile380Thr	rs768749706	missense variant	-	NC_000023.11:g.15324714A>G	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg388Lys	rs747894664	missense variant	-	NC_000023.11:g.15324690C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg393Lys	rs978567788	missense variant	-	NC_000023.11:g.15324675C>T	TOPMed
PIGA	P37287	p.Arg393Gly	rs781095752	missense variant	-	NC_000023.11:g.15324676T>C	ExAC,gnomAD
PIGA	P37287	p.Glu395Lys	rs1060499666	missense variant	-	NC_000023.11:g.15324670C>T	-
PIGA	P37287	p.Glu395Lys	RCV000449490	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15324670C>T	ClinVar
PIGA	P37287	p.Arg400Trp	rs772225061	missense variant	-	NC_000023.11:g.15321763G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg400Trp	RCV000520216	missense variant	-	NC_000023.11:g.15321763G>A	ClinVar
PIGA	P37287	p.Val401Leu	rs759697480	missense variant	-	NC_000023.11:g.15321760C>G	ExAC,gnomAD
PIGA	P37287	p.Val401Leu	rs759697480	missense variant	-	NC_000023.11:g.15321760C>A	ExAC,gnomAD
PIGA	P37287	p.Val401Glu	rs794727790	missense variant	-	NC_000023.11:g.15321759A>T	-
PIGA	P37287	p.Val401Glu	RCV000179409	missense variant	-	NC_000023.11:g.15321759A>T	ClinVar
PIGA	P37287	p.Ser402Leu	rs774644659	missense variant	-	NC_000023.11:g.15321756G>A	ExAC,gnomAD
PIGA	P37287	p.Ser402Ala	rs192475811	missense variant	-	NC_000023.11:g.15321757A>C	1000Genomes,TOPMed
PIGA	P37287	p.Glu404Lys	rs1313883658	missense variant	-	NC_000023.11:g.15321751C>T	gnomAD
PIGA	P37287	p.Ala405Val	rs201361742	missense variant	-	NC_000023.11:g.15321747G>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ala405Val	RCV000541463	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321747G>A	ClinVar
PIGA	P37287	p.Pro408Leu	rs914087630	missense variant	-	NC_000023.11:g.15321738G>A	TOPMed
PIGA	P37287	p.Pro408Ser	rs1314103115	missense variant	-	NC_000023.11:g.15321739G>A	TOPMed
PIGA	P37287	p.Met409Lys	rs1243499829	missense variant	-	NC_000023.11:g.15321735A>T	TOPMed
PIGA	P37287	p.Met409Ile	rs780815350	missense variant	-	NC_000023.11:g.15321734C>T	ExAC,gnomAD
PIGA	P37287	p.Arg412Ter	rs387906726	stop gained	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15321727G>A	-
PIGA	P37287	p.Arg412Ter	RCV000022881	nonsense	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321727G>A	ClinVar
PIGA	P37287	p.Asp414Asn	rs768524297	missense variant	-	NC_000023.11:g.15321721C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Asp414His	rs768524297	missense variant	-	NC_000023.11:g.15321721C>G	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Leu416Ile	rs1449341363	missense variant	-	NC_000023.11:g.15321715G>T	gnomAD
PIGA	P37287	p.His419Tyr	rs746591138	missense variant	-	NC_000023.11:g.15321706G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Gly421Ser	rs771058274	missense variant	-	NC_000023.11:g.15321700C>T	ExAC,gnomAD
PIGA	P37287	p.Ile427Val	rs757835670	missense variant	-	NC_000023.11:g.15321682T>C	ExAC,gnomAD
PIGA	P37287	p.Ala432Thr	rs1361394188	missense variant	-	NC_000023.11:g.15321667C>T	gnomAD
PIGA	P37287	p.Val433Ile	rs139149663	missense variant	-	NC_000023.11:g.15321664C>T	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ile440Thr	rs749080220	missense variant	-	NC_000023.11:g.15321642A>G	ExAC,TOPMed,gnomAD
PIGA	P37287	p.LeuArgTrpMetThrProAspSerIleIleAsp442LeuArgTrpMetThrProAspSerIleIleGluIleGluMetAspAspSerArgPheTyrHisTerUnk	rs786200912	stop gained	-	NC_000023.11:g.15321637_15321638insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA	-
PIGA	P37287	p.Leu442Ter	RCV000010642	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15321638_15321639del	ClinVar
PIGA	P37287	p.Thr446Ile	rs754401169	missense variant	-	NC_000023.11:g.15321624G>A	ExAC,gnomAD
PIGA	P37287	p.Asp452GluIleGluMetAspAspSerArgPheTyrHisTer	RCV000010644	nonsense	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15321637_15321638insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA	ClinVar
PIGA	P37287	p.Val453Ala	rs1212223898	missense variant	-	NC_000023.11:g.15321603A>G	TOPMed
PIGA	P37287	p.Asp456Asn	rs201783559	missense variant	-	NC_000023.11:g.15321595C>T	1000Genomes,ExAC,gnomAD
PIGA	P37287	p.Ala457Thr	RCV000649036	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321592C>T	ClinVar
PIGA	P37287	p.Ala457Pro	rs1440750558	missense variant	-	NC_000023.11:g.15321592C>G	TOPMed
PIGA	P37287	p.Ala457Thr	rs1440750558	missense variant	-	NC_000023.11:g.15321592C>T	TOPMed
PIGA	P37287	p.Thr458Ser	rs1179561045	missense variant	-	NC_000023.11:g.15321588G>C	gnomAD
PIGA	P37287	p.Pro460Leu	rs1181949227	missense variant	-	NC_000023.11:g.15321582G>A	gnomAD
PIGA	P37287	p.Arg461Trp	rs752798208	missense variant	-	NC_000023.11:g.15321580G>A	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg461Gln	RCV000624780	missense variant	Inborn genetic diseases	NC_000023.11:g.15321579C>T	ClinVar
PIGA	P37287	p.Arg461Gln	rs769061128	missense variant	-	NC_000023.11:g.15321579C>T	1000Genomes,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Ala463Thr	rs774546648	missense variant	-	NC_000023.11:g.15321574C>T	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Trp464Ser	rs766602742	missense variant	-	NC_000023.11:g.15321570C>G	ExAC,gnomAD
PIGA	P37287	p.Tyr468Cys	rs761613346	missense variant	-	NC_000023.11:g.15321558T>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Arg473Thr	rs773189052	missense variant	-	NC_000023.11:g.15321543C>G	TOPMed,gnomAD
PIGA	P37287	p.Arg473Lys	rs773189052	missense variant	-	NC_000023.11:g.15321543C>T	TOPMed,gnomAD
PIGA	P37287	p.Gly474Glu	rs142772459	missense variant	-	NC_000023.11:g.15321540C>T	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Gly474Val	rs142772459	missense variant	-	NC_000023.11:g.15321540C>A	ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Gly474Arg	rs61760986	missense variant	-	NC_000023.11:g.15321541C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGA	P37287	p.Gly474Arg	RCV000649040	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321541C>T	ClinVar
PIGA	P37287	p.Gly475Asp	rs1301584122	missense variant	-	NC_000023.11:g.15321537C>T	TOPMed,gnomAD
PIGA	P37287	p.Glu476Gly	rs775330646	missense variant	-	NC_000023.11:g.15321534T>C	ExAC,gnomAD
PIGA	P37287	p.Asn478Lys	rs771690457	missense variant	-	NC_000023.11:g.15321527A>C	ExAC,gnomAD
PIGA	P37287	p.Thr483Ala	rs745560847	missense variant	-	NC_000023.11:g.15321514T>C	ExAC,TOPMed,gnomAD
PIGA	P37287	p.Thr483Ala	RCV000649039	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321514T>C	ClinVar
PIGA	P37287	p.Arg484Lys	rs1362845230	missense variant	-	NC_000023.11:g.15321510C>T	gnomAD
PIGA	P37287	p.Ter485Trp	rs1283056919	stop lost	-	NC_000023.11:g.15321507T>C	TOPMed
PBX1	P40424	p.Glu3Asp	rs375925928	missense variant	-	NC_000001.11:g.164559831G>C	ESP,TOPMed,gnomAD
PBX1	P40424	p.Gln4His	rs1031011831	missense variant	-	NC_000001.11:g.164559834G>C	TOPMed,gnomAD
PBX1	P40424	p.Arg6Ser	rs1344429665	missense variant	-	NC_000001.11:g.164559840G>T	TOPMed
PBX1	P40424	p.Met8Leu	rs958254448	missense variant	-	NC_000001.11:g.164559844A>C	TOPMed,gnomAD
PBX1	P40424	p.Met8Val	rs958254448	missense variant	-	NC_000001.11:g.164559844A>G	TOPMed,gnomAD
PBX1	P40424	p.His11Tyr	rs1435469620	missense variant	-	NC_000001.11:g.164559853C>T	gnomAD
PBX1	P40424	p.His11Leu	rs747490519	missense variant	-	NC_000001.11:g.164559854A>T	ExAC,TOPMed
PBX1	P40424	p.Gly13Glu	rs1304780734	missense variant	-	NC_000001.11:g.164559860G>A	gnomAD
PBX1	P40424	p.Gly15Glu	rs1431301757	missense variant	-	NC_000001.11:g.164559866G>A	TOPMed
PBX1	P40424	p.Ala17Val	rs769041303	missense variant	-	NC_000001.11:g.164559872C>T	ExAC,gnomAD
PBX1	P40424	p.Gly18Arg	rs544057798	missense variant	-	NC_000001.11:g.164559874G>C	1000Genomes,ExAC,gnomAD
PBX1	P40424	p.Gly18Arg	rs544057798	missense variant	-	NC_000001.11:g.164559874G>A	1000Genomes,ExAC,gnomAD
PBX1	P40424	p.Gly18Glu	rs1379669919	missense variant	-	NC_000001.11:g.164559875G>A	gnomAD
PBX1	P40424	p.Gly18Ter	rs544057798	stop gained	-	NC_000001.11:g.164559874G>T	1000Genomes,ExAC,gnomAD
PBX1	P40424	p.His19Pro	rs773577978	missense variant	-	NC_000001.11:g.164559878A>C	ExAC,gnomAD
PBX1	P40424	p.His19Gln	rs763090532	missense variant	-	NC_000001.11:g.164559879C>A	ExAC,TOPMed,gnomAD
PBX1	P40424	p.His19Tyr	rs765608918	missense variant	-	NC_000001.11:g.164559877C>T	ExAC,gnomAD
PBX1	P40424	p.Pro20Thr	rs1211667432	missense variant	-	NC_000001.11:g.164559880C>A	gnomAD
PBX1	P40424	p.Pro20Arg	rs1249217854	missense variant	-	NC_000001.11:g.164559881C>G	gnomAD
PBX1	P40424	p.Pro20Leu	rs1249217854	missense variant	-	NC_000001.11:g.164559881C>T	gnomAD
PBX1	P40424	p.Gly21Ser	rs2275558	missense variant	-	NC_000001.11:g.164559883G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PBX1	P40424	p.Leu22Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164559886C>A	NCI-TCGA
PBX1	P40424	p.Gln24Arg	rs751494699	missense variant	-	NC_000001.11:g.164559893A>G	ExAC
PBX1	P40424	p.Leu26Val	rs1418007558	missense variant	-	NC_000001.11:g.164559898T>G	TOPMed
PBX1	P40424	p.Asp28Val	rs1480951245	missense variant	-	NC_000001.11:g.164559905A>T	TOPMed
PBX1	P40424	p.Gly29Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164559908G>T	NCI-TCGA
PBX1	P40424	p.Gly31Val	rs192264696	missense variant	-	NC_000001.11:g.164559914G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PBX1	P40424	p.Gly31Ser	rs2275558	missense variant	-	NC_000001.11:g.164559883G>A	UniProt,dbSNP
PBX1	P40424	p.Gly31Ser	VAR_068904	missense variant	-	NC_000001.11:g.164559883G>A	UniProt
PBX1	P40424	p.Gly31Arg	rs1192905716	missense variant	-	NC_000001.11:g.164559913G>A	gnomAD
PBX1	P40424	p.Gly31Ser	VAR_068904	Missense	-	-	UniProt
PBX1	P40424	p.Gly32Glu	rs1433807647	missense variant	-	NC_000001.11:g.164559917G>A	TOPMed,gnomAD
PBX1	P40424	p.Thr33Ala	rs1178355813	missense variant	-	NC_000001.11:g.164559919A>G	TOPMed,gnomAD
PBX1	P40424	p.Thr33Pro	rs1178355813	missense variant	-	NC_000001.11:g.164559919A>C	TOPMed,gnomAD
PBX1	P40424	p.Gly35Arg	rs1305643442	missense variant	-	NC_000001.11:g.164559925G>A	TOPMed
PBX1	P40424	p.Gly35Glu	rs1461673861	missense variant	-	NC_000001.11:g.164559926G>A	gnomAD
PBX1	P40424	p.Gly35Ala	rs1461673861	missense variant	-	NC_000001.11:g.164559926G>C	gnomAD
PBX1	P40424	p.Gly37Asp	rs1299022900	missense variant	-	NC_000001.11:g.164559932G>A	gnomAD
PBX1	P40424	p.Gly38Glu	rs370561885	missense variant	-	NC_000001.11:g.164559935G>A	ESP,ExAC,TOPMed,gnomAD
PBX1	P40424	p.Arg39Lys	rs1325785503	missense variant	-	NC_000001.11:g.164559938G>A	gnomAD
PBX1	P40424	p.Asp45Ala	rs777341799	missense variant	-	NC_000001.11:g.164559956A>C	ExAC,gnomAD
PBX1	P40424	p.Asp45ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.164559954A>-	NCI-TCGA
PBX1	P40424	p.Ser57Asn	rs1306484700	missense variant	-	NC_000001.11:g.164559992G>A	gnomAD
PBX1	P40424	p.Ala63Ser	rs148894677	missense variant	-	NC_000001.11:g.164560009G>T	ESP,ExAC,TOPMed,gnomAD
PBX1	P40424	p.Ala67Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164563245G>T	NCI-TCGA
PBX1	P40424	p.Asn69His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164563251A>C	NCI-TCGA
PBX1	P40424	p.Met73Ile	COSM3477565	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164563265G>A	NCI-TCGA Cosmic
PBX1	P40424	p.Pro75Leu	rs369144775	missense variant	-	NC_000001.11:g.164563270C>T	ESP,ExAC,TOPMed
PBX1	P40424	p.Asn79Tyr	rs749957295	missense variant	-	NC_000001.11:g.164563281A>T	ExAC,gnomAD
PBX1	P40424	p.Thr88GlnPheSerTerUnk	COSM1335880	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.164563303A>-	NCI-TCGA Cosmic
PBX1	P40424	p.Val89Phe	COSM6122431	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164563311G>T	NCI-TCGA Cosmic
PBX1	P40424	p.Leu90IleLeu	NCI-TCGA novel	insertion	-	NC_000001.11:g.164563311_164563312insTTTTGA	NCI-TCGA
PBX1	P40424	p.Arg93Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164792506G>A	NCI-TCGA
PBX1	P40424	p.Arg93Leu	rs1481766438	missense variant	-	NC_000001.11:g.164792506G>T	TOPMed
PBX1	P40424	p.Arg93Ter	rs1423937629	stop gained	-	NC_000001.11:g.164792505C>T	TOPMed,gnomAD
PBX1	P40424	p.Arg93Gly	rs1423937629	missense variant	-	NC_000001.11:g.164792505C>G	TOPMed,gnomAD
PBX1	P40424	p.Gly94Glu	rs35543782	missense variant	-	NC_000001.11:g.164792509G>A	TOPMed
PBX1	P40424	p.Gln96Ter	COSM3863385	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.164792514C>T	NCI-TCGA Cosmic
PBX1	P40424	p.Asp102Ala	rs1466947651	missense variant	-	NC_000001.11:g.164792533A>C	gnomAD
PBX1	P40424	p.Pro103Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164792535C>T	NCI-TCGA
PBX1	P40424	p.Arg107Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164792547C>T	NCI-TCGA
PBX1	P40424	p.Asp109Asn	rs757647151	missense variant	-	NC_000001.11:g.164792553G>A	ExAC,gnomAD
PBX1	P40424	p.Met111Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164792559A>T	NCI-TCGA
PBX1	P40424	p.Val117Met	COSM1295405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792577G>A	NCI-TCGA Cosmic
PBX1	P40424	p.Ala118Ser	rs1332887753	missense variant	-	NC_000001.11:g.164792580G>T	gnomAD
PBX1	P40424	p.Glu121Gln	COSM4846269	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792589G>C	NCI-TCGA Cosmic
PBX1	P40424	p.Lys122Arg	rs775678833	missense variant	-	NC_000001.11:g.164792593A>G	ExAC,gnomAD
PBX1	P40424	p.Lys122Asn	COSM1185634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792594G>T	NCI-TCGA Cosmic
PBX1	P40424	p.Ser126Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164792604T>C	NCI-TCGA
PBX1	P40424	p.Ser126Ala	rs962037824	missense variant	-	NC_000001.11:g.164792604T>G	TOPMed
PBX1	P40424	p.Ser126Leu	rs768635810	missense variant	-	NC_000001.11:g.164792605C>T	ExAC,gnomAD
PBX1	P40424	p.Ala127Val	rs1349939044	missense variant	-	NC_000001.11:g.164792608C>T	TOPMed
PBX1	P40424	p.Ala128Val	rs1210943507	missense variant	-	NC_000001.11:g.164792611C>T	gnomAD
PBX1	P40424	p.Ala130Thr	rs765108033	missense variant	-	NC_000001.11:g.164792616G>A	ExAC,gnomAD
PBX1	P40424	p.Ala130Glu	rs772720191	missense variant	-	NC_000001.11:g.164792617C>A	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Ala130Val	rs772720191	missense variant	-	NC_000001.11:g.164792617C>T	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Ala130Ser	rs765108033	missense variant	-	NC_000001.11:g.164792616G>T	ExAC,gnomAD
PBX1	P40424	p.Ala131Val	rs765806321	missense variant	-	NC_000001.11:g.164792620C>T	ExAC,gnomAD
PBX1	P40424	p.Ala132Val	rs1185439958	missense variant	-	NC_000001.11:g.164792623C>T	gnomAD
PBX1	P40424	p.Ala133Glu	rs1458267934	missense variant	-	NC_000001.11:g.164792626C>A	gnomAD
PBX1	P40424	p.Ala133Val	rs1458267934	missense variant	-	NC_000001.11:g.164792626C>T	gnomAD
PBX1	P40424	p.Ala134Val	rs754428947	missense variant	-	NC_000001.11:g.164792629C>T	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Gly137Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164792638G>T	NCI-TCGA
PBX1	P40424	p.Gly138Ter	RCV000578425	frameshift	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164792641_164792647del	ClinVar
PBX1	P40424	p.Gly138Ala	rs1454591193	missense variant	-	NC_000001.11:g.164792641G>C	TOPMed
PBX1	P40424	p.Ala139Thr	rs201279083	missense variant	-	NC_000001.11:g.164792643G>A	ESP,ExAC,TOPMed,gnomAD
PBX1	P40424	p.Gly140Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164792646G>T	NCI-TCGA
PBX1	P40424	p.Gly140Ser	rs953834516	missense variant	-	NC_000001.11:g.164792646G>A	TOPMed,gnomAD
PBX1	P40424	p.Gly140Arg	rs953834516	missense variant	-	NC_000001.11:g.164792646G>C	TOPMed,gnomAD
PBX1	P40424	p.Ser141Ter	RCV000760618	nonsense	-	NC_000001.11:g.164792650C>G	ClinVar
PBX1	P40424	p.Asn143Ter	RCV000504557	frameshift	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164792656del	ClinVar
PBX1	P40424	p.Asp149Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164792674A>T	NCI-TCGA
PBX1	P40424	p.Asp149Asn	COSM3477581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792673G>A	NCI-TCGA Cosmic
PBX1	P40424	p.Ala152Gly	COSM3863387	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792683C>G	NCI-TCGA Cosmic
PBX1	P40424	p.Lys153Arg	rs747029494	missense variant	-	NC_000001.11:g.164792686A>G	ExAC,gnomAD
PBX1	P40424	p.Gln159His	rs1489019776	missense variant	-	NC_000001.11:g.164792705A>C	gnomAD
PBX1	P40424	p.Tyr161Phe	rs1410575958	missense variant	-	NC_000001.11:g.164792710A>T	TOPMed
PBX1	P40424	p.His162Tyr	COSM3477582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792712C>T	NCI-TCGA Cosmic
PBX1	P40424	p.Thr163Met	COSM3984431	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164792716C>T	NCI-TCGA Cosmic
PBX1	P40424	p.Glu164Ter	COSM898867	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.164792718G>T	NCI-TCGA Cosmic
PBX1	P40424	p.Glu169Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.164792733G>T	NCI-TCGA
PBX1	P40424	p.Glu174Lys	COSM898868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799708G>A	NCI-TCGA Cosmic
PBX1	P40424	p.His178Gln	rs375506788	missense variant	-	NC_000001.11:g.164799722C>G	ESP,ExAC,TOPMed,gnomAD
PBX1	P40424	p.Met180Ile	rs769833066	missense variant	-	NC_000001.11:g.164799728G>T	ExAC,gnomAD
PBX1	P40424	p.Leu182Phe	COSM4499534	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799732C>T	NCI-TCGA Cosmic
PBX1	P40424	p.Leu183Met	COSM4024700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799735C>A	NCI-TCGA Cosmic
PBX1	P40424	p.Arg184Ter	RCV000504555	nonsense	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164799738C>T	ClinVar
PBX1	P40424	p.Arg184Ter	rs1553248081	stop gained	-	NC_000001.11:g.164799738C>T	-
PBX1	P40424	p.Arg184_Asn430del	VAR_079369	inframe_deletion	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) [MIM:617641]	-	UniProt
PBX1	P40424	p.Gln186His	rs556050975	missense variant	-	NC_000001.11:g.164799746A>T	1000Genomes,ExAC,gnomAD
PBX1	P40424	p.Arg188Leu	COSM6122427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799751G>T	NCI-TCGA Cosmic
PBX1	P40424	p.Pro194Ser	rs774100520	missense variant	-	NC_000001.11:g.164799768C>T	ExAC,gnomAD
PBX1	P40424	p.Arg199Trp	rs771675680	missense variant	-	NC_000001.11:g.164799783C>T	ExAC,gnomAD
PBX1	P40424	p.Arg199Gln	rs1433896828	missense variant	-	NC_000001.11:g.164799784G>A	gnomAD
PBX1	P40424	p.Val201Gly	rs775205004	missense variant	-	NC_000001.11:g.164799790T>G	ExAC,gnomAD
PBX1	P40424	p.Ile203Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164799795A>G	NCI-TCGA
PBX1	P40424	p.Ile204Leu	COSM3789020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799798A>C	NCI-TCGA Cosmic
PBX1	P40424	p.Ile204Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164799799T>C	NCI-TCGA
PBX1	P40424	p.His205Arg	COSM5156090	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799802A>G	NCI-TCGA Cosmic
PBX1	P40424	p.Arg206Leu	rs1421804755	missense variant	-	NC_000001.11:g.164799805G>T	gnomAD
PBX1	P40424	p.Phe208Cys	rs1171842620	missense variant	-	NC_000001.11:g.164799811T>G	gnomAD
PBX1	P40424	p.Gln214His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164799830G>T	NCI-TCGA
PBX1	P40424	p.Thr219Met	COSM5844344	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799844C>T	NCI-TCGA Cosmic
PBX1	P40424	p.Glu221Lys	COSM3789021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799849G>A	NCI-TCGA Cosmic
PBX1	P40424	p.Arg227Pro	rs1553248110	missense variant	-	NC_000001.11:g.164799868G>C	-
PBX1	P40424	p.Arg227His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164799868G>A	NCI-TCGA
PBX1	P40424	p.Arg227Pro	RCV000626307	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164799868G>C	ClinVar
PBX1	P40424	p.Arg229Gln	COSM3477585	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799874G>A	NCI-TCGA Cosmic
PBX1	P40424	p.Leu231Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164799880T>A	NCI-TCGA
PBX1	P40424	p.Asp232Val	COSM6122424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799883A>T	NCI-TCGA Cosmic
PBX1	P40424	p.Ala233Val	COSM4024701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799886C>T	NCI-TCGA Cosmic
PBX1	P40424	p.Ala233Ser	COSM6122421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164799885G>T	NCI-TCGA Cosmic
PBX1	P40424	p.Arg234Gln	RCV000677637	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164799889G>A	ClinVar
PBX1	P40424	p.Arg234Trp	rs1218945005	missense variant	-	NC_000001.11:g.164799888C>T	gnomAD
PBX1	P40424	p.Arg234Pro	RCV000626308	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164799889G>C	ClinVar
PBX1	P40424	p.Arg235Gln	rs1553249136	missense variant	-	NC_000001.11:g.164807544G>A	-
PBX1	P40424	p.Arg235Gln	RCV000626309	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164807544G>A	ClinVar
PBX1	P40424	p.Arg238Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164807553G>A	NCI-TCGA
PBX1	P40424	p.Phe252SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.164807593T>-	NCI-TCGA
PBX1	P40424	p.Leu256Phe	COSM383742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164807606C>T	NCI-TCGA Cosmic
PBX1	P40424	p.Asn258Tyr	COSM424450	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164807612A>T	NCI-TCGA Cosmic
PBX1	P40424	p.Tyr260Cys	COSM4024702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164807619A>G	NCI-TCGA Cosmic
PBX1	P40424	p.Ser262Ter	RCV000626310	frameshift	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164807623dup	ClinVar
PBX1	P40424	p.Ser262Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164807624A>G	NCI-TCGA
PBX1	P40424	p.Glu267Asp	COSM676519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164807641G>T	NCI-TCGA Cosmic
PBX1	P40424	p.Cys273Tyr	RCV000735243	missense variant	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY (CAKUTHED)	NC_000001.11:g.164807658G>A	ClinVar
PBX1	P40424	p.Arg288Ter	rs1259895025	stop gained	-	NC_000001.11:g.164812014C>T	gnomAD
PBX1	P40424	p.Arg288Gln	COSM3863388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164812015G>A	NCI-TCGA Cosmic
PBX1	P40424	p.Arg290Trp	COSM2088768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164812020C>T	NCI-TCGA Cosmic
PBX1	P40424	p.Glu301Lys	rs753922245	missense variant	-	NC_000001.11:g.164812053G>A	ExAC,gnomAD
PBX1	P40424	p.Ala307Thr	rs1458613469	missense variant	-	NC_000001.11:g.164812071G>A	gnomAD
PBX1	P40424	p.Ala310Thr	rs1181126074	missense variant	-	NC_000001.11:g.164812080G>A	gnomAD
PBX1	P40424	p.Thr312Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.164812082_164812083insGTATA	NCI-TCGA
PBX1	P40424	p.Thr314Ala	rs1477435698	missense variant	-	NC_000001.11:g.164812092A>G	gnomAD
PBX1	P40424	p.Thr314Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164812092A>T	NCI-TCGA
PBX1	P40424	p.Asn315Ser	rs546195075	missense variant	-	NC_000001.11:g.164812096A>G	gnomAD
PBX1	P40424	p.Ala318Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164812105C>T	NCI-TCGA
PBX1	P40424	p.Ala318Asp	COSM4940480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164812105C>A	NCI-TCGA Cosmic
PBX1	P40424	p.Asn324Asp	rs765200363	missense variant	-	NC_000001.11:g.164812122A>G	ExAC,gnomAD
PBX1	P40424	p.Thr328Ile	rs1400850042	missense variant	-	NC_000001.11:g.164812135C>T	gnomAD
PBX1	P40424	p.Thr328Ala	COSM676518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164812134A>G	NCI-TCGA Cosmic
PBX1	P40424	p.Pro329Arg	rs1290495014	missense variant	-	NC_000001.11:g.164812138C>G	TOPMed
PBX1	P40424	p.Pro329Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164812137C>T	NCI-TCGA
PBX1	P40424	p.Gly333Asp	rs1175974386	missense variant	-	NC_000001.11:g.164820072G>A	TOPMed
PBX1	P40424	p.Ser335Cys	rs1480599224	missense variant	-	NC_000001.11:g.164820078C>G	TOPMed
PBX1	P40424	p.Ser336Thr	rs1424046891	missense variant	-	NC_000001.11:g.164820081G>C	gnomAD
PBX1	P40424	p.Phe338Cys	COSM1127286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820087T>G	NCI-TCGA Cosmic
PBX1	P40424	p.Asn339Ser	rs1310898359	missense variant	-	NC_000001.11:g.164820090A>G	gnomAD
PBX1	P40424	p.Met340Val	rs1256887115	missense variant	-	NC_000001.11:g.164820092A>G	TOPMed
PBX1	P40424	p.Ser341Leu	rs776997383	missense variant	-	NC_000001.11:g.164820096C>T	ExAC,gnomAD
PBX1	P40424	p.Asn342Asp	rs1161353651	missense variant	-	NC_000001.11:g.164820098A>G	gnomAD
PBX1	P40424	p.Ser343Cys	COSM6059266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820102C>G	NCI-TCGA Cosmic
PBX1	P40424	p.Asp345Val	rs1212721505	missense variant	-	NC_000001.11:g.164820108A>T	TOPMed
PBX1	P40424	p.Leu346Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164820110T>G	NCI-TCGA
PBX1	P40424	p.Leu346Phe	rs1324292200	missense variant	-	NC_000001.11:g.164820112G>T	gnomAD
PBX1	P40424	p.Met348Leu	rs1321918768	missense variant	-	NC_000001.11:g.164820116A>T	TOPMed
PBX1	P40424	p.Met348Ile	rs761944828	missense variant	-	NC_000001.11:g.164820118G>A	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Met348Ile	rs761944828	missense variant	-	NC_000001.11:g.164820118G>C	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Val350Met	rs750360584	missense variant	-	NC_000001.11:g.164820122G>A	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Leu353Arg	COSM6059263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820132T>G	NCI-TCGA Cosmic
PBX1	P40424	p.Asn354Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164820135A>G	NCI-TCGA
PBX1	P40424	p.Asp356Asn	COSM3477589	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820140G>A	NCI-TCGA Cosmic
PBX1	P40424	p.Asp356Val	rs1282894507	missense variant	-	NC_000001.11:g.164820141A>T	gnomAD
PBX1	P40424	p.Ser357Ala	rs751257842	missense variant	-	NC_000001.11:g.164820143T>G	ExAC
PBX1	P40424	p.Gly360Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164820153G>T	NCI-TCGA
PBX1	P40424	p.Ala361Val	COSM898872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820156C>T	NCI-TCGA Cosmic
PBX1	P40424	p.Ala361Thr	COSM4916306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820155G>A	NCI-TCGA Cosmic
PBX1	P40424	p.Ala361Ser	rs780672150	missense variant	-	NC_000001.11:g.164820155G>T	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Gly364Glu	COSM3477590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164820165G>A	NCI-TCGA Cosmic
PBX1	P40424	p.Ala365Asp	rs752373773	missense variant	-	NC_000001.11:g.164820168C>A	ExAC,gnomAD
PBX1	P40424	p.Asn366Ile	rs1372566739	missense variant	-	NC_000001.11:g.164820171A>T	TOPMed
PBX1	P40424	p.Val367Met	rs142396283	missense variant	-	NC_000001.11:g.164820173G>A	ESP,ExAC,TOPMed,gnomAD
PBX1	P40424	p.Gln368Lys	rs906379595	missense variant	-	NC_000001.11:g.164820176C>A	TOPMed,gnomAD
PBX1	P40424	p.Gln368Pro	rs746371607	missense variant	-	NC_000001.11:g.164820177A>C	ExAC,gnomAD
PBX1	P40424	p.Gln370Arg	rs747269460	missense variant	-	NC_000001.11:g.164820183A>G	ExAC
PBX1	P40424	p.Gln370Leu	rs747269460	missense variant	-	NC_000001.11:g.164820183A>T	ExAC
PBX1	P40424	p.Leu374His	rs1339209588	missense variant	-	NC_000001.11:g.164821547T>A	gnomAD
PBX1	P40424	p.Arg375Cys	rs868781414	missense variant	-	NC_000001.11:g.164821549C>T	-
PBX1	P40424	p.Arg375His	rs201963901	missense variant	-	NC_000001.11:g.164821550G>A	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Ile378Val	rs775324300	missense variant	-	NC_000001.11:g.164821558A>G	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Ile378Phe	rs775324300	missense variant	-	NC_000001.11:g.164821558A>T	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Ser379Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164821561A>G	NCI-TCGA
PBX1	P40424	p.Gly382Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.164821571G>A	NCI-TCGA
PBX1	P40424	p.Tyr384Cys	rs753557796	missense variant	-	NC_000001.11:g.164821577A>G	ExAC,gnomAD
PBX1	P40424	p.Ser385Asn	rs1037995461	missense variant	-	NC_000001.11:g.164821580G>A	-
PBX1	P40424	p.Gly387Val	rs201029742	missense variant	-	NC_000001.11:g.164821586G>T	1000Genomes,ExAC,gnomAD
PBX1	P40424	p.Ala389Thr	rs541105414	missense variant	-	NC_000001.11:g.164821591G>A	1000Genomes,ExAC,gnomAD
PBX1	P40424	p.Ala390Val	rs748459643	missense variant	-	NC_000001.11:g.164821595C>T	ExAC,gnomAD
PBX1	P40424	p.Ala390Thr	rs564455203	missense variant	-	NC_000001.11:g.164821594G>A	1000Genomes,ExAC,gnomAD
PBX1	P40424	p.Gln392Arg	rs1251320270	missense variant	-	NC_000001.11:g.164821601A>G	TOPMed,gnomAD
PBX1	P40424	p.Gln392His	rs1420999764	missense variant	-	NC_000001.11:g.164821602G>C	gnomAD
PBX1	P40424	p.Met393Lys	rs1196974442	missense variant	-	NC_000001.11:g.164821604T>A	gnomAD
PBX1	P40424	p.Tyr394Cys	rs756581427	missense variant	-	NC_000001.11:g.164821607A>G	ExAC,TOPMed,gnomAD
PBX1	P40424	p.Pro396Leu	rs1466818722	missense variant	-	NC_000001.11:g.164821613C>T	gnomAD
PBX1	P40424	p.Gln397Arg	rs770885352	missense variant	-	NC_000001.11:g.164821616A>G	ExAC,gnomAD
PBX1	P40424	p.Gly398Ser	rs146653553	missense variant	-	NC_000001.11:g.164821618G>A	ESP,ExAC,TOPMed
PBX1	P40424	p.Ser400Gly	rs745780226	missense variant	-	NC_000001.11:g.164821624A>G	ExAC,gnomAD
PBX1	P40424	p.Ser400Arg	rs1332683363	missense variant	-	NC_000001.11:g.164821626T>G	gnomAD
PBX1	P40424	p.Asn402His	rs1297562435	missense variant	-	NC_000001.11:g.164846587A>C	gnomAD
PBX1	P40424	p.Asn402Asp	COSM4024703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164846587A>G	NCI-TCGA Cosmic
PBX1	P40424	p.Gly404Asp	rs768408673	missense variant	-	NC_000001.11:g.164846594G>A	ExAC,gnomAD
PBX1	P40424	p.Trp405Cys	rs1264921684	missense variant	-	NC_000001.11:g.164846598G>T	gnomAD
PBX1	P40424	p.Pro411His	rs776551626	missense variant	-	NC_000001.11:g.164846615C>A	ExAC,gnomAD
PBX1	P40424	p.Val414Met	rs1224964185	missense variant	-	NC_000001.11:g.164846623G>A	gnomAD
PBX1	P40424	p.Thr418Ala	rs773697815	missense variant	-	NC_000001.11:g.164846635A>G	TOPMed
PBX1	P40424	p.Gly420Asp	rs1205686195	missense variant	-	NC_000001.11:g.164846642G>A	gnomAD
PBX1	P40424	p.Gly422Asp	rs150307059	missense variant	-	NC_000001.11:g.164846648G>A	ESP,ExAC,TOPMed,gnomAD
PBX1	P40424	p.His425Arg	rs1302539075	missense variant	-	NC_000001.11:g.164846657A>G	TOPMed
PBX1	P40424	p.His425Asn	COSM424452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.164846656C>A	NCI-TCGA Cosmic
PBX1	P40424	p.Ser429Tyr	rs1456864262	missense variant	-	NC_000001.11:g.164846669C>A	gnomAD
WNT5A	P41221	p.Ile5Thr	RCV000363742	missense variant	-	NC_000003.12:g.55480911A>G	ClinVar
WNT5A	P41221	p.Ile5Val	rs370383438	missense variant	-	NC_000003.12:g.55480912T>C	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile5Phe	rs370383438	missense variant	-	NC_000003.12:g.55480912T>A	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile5Ser	rs200914260	missense variant	-	NC_000003.12:g.55480911A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile5Thr	rs200914260	missense variant	-	NC_000003.12:g.55480911A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly6Glu	rs776543464	missense variant	-	NC_000003.12:g.55480908C>T	ExAC,gnomAD
WNT5A	P41221	p.Gly6Arg	rs1292414238	missense variant	-	NC_000003.12:g.55480909C>T	TOPMed
WNT5A	P41221	p.Ile7Thr	rs554762368	missense variant	-	NC_000003.12:g.55480905A>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile7Leu	rs183555808	missense variant	-	NC_000003.12:g.55480906T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly11Arg	rs1319138082	missense variant	-	NC_000003.12:g.55480894C>T	gnomAD
WNT5A	P41221	p.Val12Ala	rs1414051938	missense variant	-	NC_000003.12:g.55480890A>G	gnomAD
WNT5A	P41221	p.Ala13Pro	rs1400348463	missense variant	-	NC_000003.12:g.55480888C>G	gnomAD
WNT5A	P41221	p.Leu14Ser	RCV000311901	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55480884A>G	ClinVar
WNT5A	P41221	p.Leu14Ser	rs886058746	missense variant	-	NC_000003.12:g.55480884A>G	-
WNT5A	P41221	p.Gly15Trp	rs867828828	missense variant	-	NC_000003.12:g.55480882C>A	TOPMed,gnomAD
WNT5A	P41221	p.Gly15Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55480882C>T	NCI-TCGA
WNT5A	P41221	p.Gly15Glu	rs778287090	missense variant	-	NC_000003.12:g.55480881C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly18Ala	rs1389369896	missense variant	-	NC_000003.12:g.55480872C>G	TOPMed,gnomAD
WNT5A	P41221	p.Gly18Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55480872C>T	NCI-TCGA
WNT5A	P41221	p.Ala20Thr	rs1476385299	missense variant	-	NC_000003.12:g.55480867C>T	TOPMed,gnomAD
WNT5A	P41221	p.Met21Val	rs1242190462	missense variant	-	NC_000003.12:g.55480864T>C	TOPMed,gnomAD
WNT5A	P41221	p.Met21Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55480863A>T	NCI-TCGA
WNT5A	P41221	p.Met21Leu	rs1242190462	missense variant	-	NC_000003.12:g.55480864T>A	TOPMed,gnomAD
WNT5A	P41221	p.Met21Thr	rs748871825	missense variant	-	NC_000003.12:g.55480863A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Lys24Gln	rs1399954454	missense variant	-	NC_000003.12:g.55480855T>G	TOPMed
WNT5A	P41221	p.Phe26Ser	rs908288616	missense variant	-	NC_000003.12:g.55480848A>G	TOPMed
WNT5A	P41221	p.Leu27Pro	rs149311661	missense variant	-	NC_000003.12:g.55480845A>G	1000Genomes,gnomAD
WNT5A	P41221	p.Leu27Ile	rs781650629	missense variant	-	NC_000003.12:g.55480846G>T	ExAC
WNT5A	P41221	p.Ala29Ser	COSM1047424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55480840C>A	NCI-TCGA Cosmic
WNT5A	P41221	p.Leu30Ser	rs1340579712	missense variant	-	NC_000003.12:g.55480836A>G	TOPMed
WNT5A	P41221	p.Ala31Val	rs371157119	missense variant	-	NC_000003.12:g.55480833G>A	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile32Met	rs1213316012	missense variant	-	NC_000003.12:g.55480829T>C	gnomAD
WNT5A	P41221	p.Ile32Val	rs752083941	missense variant	-	NC_000003.12:g.55480831T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Phe33Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55480826A>T	NCI-TCGA
WNT5A	P41221	p.Ser35Phe	RCV000595735	missense variant	-	NC_000003.12:g.55480821G>A	ClinVar
WNT5A	P41221	p.Ser35Phe	rs1553679404	missense variant	-	NC_000003.12:g.55480821G>A	-
WNT5A	P41221	p.Phe36Ile	rs1270786128	missense variant	-	NC_000003.12:g.55480819A>T	gnomAD
WNT5A	P41221	p.Phe36Leu	rs374082538	missense variant	-	NC_000003.12:g.55480817G>C	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala37Gly	rs190451046	missense variant	-	NC_000003.12:g.55480815G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala37Gly	RCV000395223	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55480815G>C	ClinVar
WNT5A	P41221	p.Ala37Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55480816C>T	NCI-TCGA
WNT5A	P41221	p.Gln38His	rs1435625630	missense variant	-	NC_000003.12:g.55480811C>G	gnomAD
WNT5A	P41221	p.Val39Ile	rs1369701937	missense variant	-	NC_000003.12:g.55480810C>T	TOPMed,gnomAD
WNT5A	P41221	p.Val39Leu	rs1369701937	missense variant	-	NC_000003.12:g.55480810C>G	TOPMed,gnomAD
WNT5A	P41221	p.Ile41Thr	rs765217843	missense variant	-	NC_000003.12:g.55480803A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile41Met	rs1411528153	missense variant	-	NC_000003.12:g.55480802A>C	gnomAD
WNT5A	P41221	p.Ala43Val	COSM1424715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55480797G>A	NCI-TCGA Cosmic
WNT5A	P41221	p.Ala43Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55480798C>T	NCI-TCGA
WNT5A	P41221	p.Asn44Lys	rs186124369	missense variant	-	NC_000003.12:g.55480793A>C	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asn44Lys	rs186124369	missense variant	-	NC_000003.12:g.55480793A>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asn44Ser	rs1025253935	missense variant	-	NC_000003.12:g.55480794T>C	TOPMed,gnomAD
WNT5A	P41221	p.Asn44Ile	rs1025253935	missense variant	-	NC_000003.12:g.55480794T>A	TOPMed,gnomAD
WNT5A	P41221	p.Ser45Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55480791G>T	NCI-TCGA
WNT5A	P41221	p.Trp46Ter	rs1439009595	stop gained	-	NC_000003.12:g.55480787C>T	TOPMed
WNT5A	P41221	p.Ser48Pro	COSM4119417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55479563A>G	NCI-TCGA Cosmic
WNT5A	P41221	p.Ser48Leu	rs369165725	missense variant	-	NC_000003.12:g.55479562G>A	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Leu49Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55479560G>C	NCI-TCGA
WNT5A	P41221	p.Met51Val	rs1289051164	missense variant	-	NC_000003.12:g.55479554T>C	gnomAD
WNT5A	P41221	p.Asn53Lys	rs767356554	missense variant	-	NC_000003.12:g.55479546G>T	ExAC,gnomAD
WNT5A	P41221	p.Val55Gly	rs761851847	missense variant	-	NC_000003.12:g.55479541A>C	ExAC,TOPMed
WNT5A	P41221	p.Met57Thr	rs759185001	missense variant	-	NC_000003.12:g.55479535A>G	ExAC,gnomAD
WNT5A	P41221	p.Val60Ile	rs1033182214	missense variant	-	NC_000003.12:g.55479527C>T	TOPMed,gnomAD
WNT5A	P41221	p.Val60Ala	rs763684509	missense variant	-	NC_000003.12:g.55479526A>G	ExAC,gnomAD
WNT5A	P41221	p.Ile62Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55479520A>C	NCI-TCGA
WNT5A	P41221	p.Ile63Met	rs1409168290	missense variant	-	NC_000003.12:g.55479516T>C	gnomAD
WNT5A	P41221	p.Ile63Val	rs769500757	missense variant	-	NC_000003.12:g.55479518T>C	ExAC,gnomAD
WNT5A	P41221	p.Ala65Ser	rs745505762	missense variant	-	NC_000003.12:g.55479512C>A	ExAC,gnomAD
WNT5A	P41221	p.Gln66Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55479509G>C	NCI-TCGA
WNT5A	P41221	p.Cys69Tyr	RCV000169741	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55479499C>T	ClinVar
WNT5A	P41221	p.Cys69Tyr	rs786204837	missense variant	-	NC_000003.12:g.55479499C>T	-
WNT5A	P41221	p.Ser70Arg	COSM731846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55479495G>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Leu72Val	rs748715879	missense variant	-	NC_000003.12:g.55479491G>C	ExAC,gnomAD
WNT5A	P41221	p.Gly74Arg	rs1218199102	missense variant	-	NC_000003.12:g.55479485C>G	gnomAD
WNT5A	P41221	p.Gln77ArgPheSerTerUnkUnk	COSM1047423	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.55479476_55479477GA>-	NCI-TCGA Cosmic
WNT5A	P41221	p.Gly78Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55479473C>T	NCI-TCGA
WNT5A	P41221	p.Gln79Glu	rs1317822537	missense variant	-	NC_000003.12:g.55479470G>C	gnomAD
WNT5A	P41221	p.Lys80Asn	rs373494821	missense variant	-	NC_000003.12:g.55479465C>G	ESP,ExAC,gnomAD
WNT5A	P41221	p.Leu82Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55479461G>T	NCI-TCGA
WNT5A	P41221	p.Cys83Ser	RCV000022696	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55479457C>G	ClinVar
WNT5A	P41221	p.Cys83ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.55479459_55479460insA	NCI-TCGA
WNT5A	P41221	p.Cys83Ser	rs786200925	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55479457C>G	UniProt,dbSNP
WNT5A	P41221	p.Cys83Ser	VAR_066623	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55479457C>G	UniProt
WNT5A	P41221	p.Cys83Ser	rs786200925	missense variant	-	NC_000003.12:g.55479457C>G	-
WNT5A	P41221	p.His84Leu	rs749398374	missense variant	-	NC_000003.12:g.55479454T>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Leu85Phe	rs1304024029	missense variant	-	NC_000003.12:g.55479450C>A	gnomAD
WNT5A	P41221	p.Tyr86Cys	rs786204836	missense variant	-	NC_000003.12:g.55479448T>C	-
WNT5A	P41221	p.Tyr86Cys	RCV000169740	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55479448T>C	ClinVar
WNT5A	P41221	p.Tyr86Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55479449A>C	NCI-TCGA
WNT5A	P41221	p.Gln87Ter	rs780270891	stop gained	-	NC_000003.12:g.55479446G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gln87Glu	rs780270891	missense variant	-	NC_000003.12:g.55479446G>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Met90Val	rs1214041901	missense variant	-	NC_000003.12:g.55479437T>C	TOPMed
WNT5A	P41221	p.Ile93Val	rs750646727	missense variant	-	NC_000003.12:g.55479428T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly96Val	rs1358232825	missense variant	-	NC_000003.12:g.55479418C>A	gnomAD
WNT5A	P41221	p.Ala97Thr	rs763870268	missense variant	-	NC_000003.12:g.55479416C>T	ExAC,gnomAD
WNT5A	P41221	p.Lys98Asn	rs1194784391	missense variant	-	NC_000003.12:g.55479411C>A	gnomAD
WNT5A	P41221	p.Thr99Ile	rs538890462	missense variant	-	NC_000003.12:g.55479409G>A	ExAC,gnomAD
WNT5A	P41221	p.Gly100Asp	rs527941562	missense variant	-	NC_000003.12:g.55479406C>T	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Lys102Arg	rs375233428	missense variant	-	NC_000003.12:g.55479400T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Lys102Asn	COSM286544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55479399T>G	NCI-TCGA Cosmic
WNT5A	P41221	p.Gln105Arg	rs751543743	missense variant	-	NC_000003.12:g.55479391T>C	ExAC,gnomAD
WNT5A	P41221	p.Gln105Leu	rs751543743	missense variant	-	NC_000003.12:g.55479391T>A	ExAC,gnomAD
WNT5A	P41221	p.Arg109Gln	rs371892633	missense variant	-	NC_000003.12:g.55479379C>T	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.His110Leu	rs1280851148	missense variant	-	NC_000003.12:g.55479376T>A	gnomAD
WNT5A	P41221	p.His110Tyr	rs1349752707	missense variant	-	NC_000003.12:g.55479377G>A	gnomAD
WNT5A	P41221	p.Arg111Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55479373C>T	NCI-TCGA
WNT5A	P41221	p.Trp113Arg	COSM4119414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55479368A>G	NCI-TCGA Cosmic
WNT5A	P41221	p.Cys115Gly	rs1157131307	missense variant	-	NC_000003.12:g.55479362A>C	TOPMed
WNT5A	P41221	p.Ser116Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55479358C>T	NCI-TCGA
WNT5A	P41221	p.Asp119Asn	rs774776699	missense variant	-	NC_000003.12:g.55479350C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asn120Lys	rs769103194	missense variant	-	NC_000003.12:g.55479345G>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Thr121Ile	rs1026265548	missense variant	-	NC_000003.12:g.55479343G>A	TOPMed
WNT5A	P41221	p.Ser122Pro	rs749783441	missense variant	-	NC_000003.12:g.55479341A>G	ExAC,gnomAD
WNT5A	P41221	p.Val123Ile	rs780324252	missense variant	-	NC_000003.12:g.55479338C>T	ExAC,gnomAD
WNT5A	P41221	p.Val123Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55479337A>G	NCI-TCGA
WNT5A	P41221	p.Met128Thr	rs1377642864	missense variant	-	NC_000003.12:g.55479322A>G	gnomAD
WNT5A	P41221	p.Gln129Leu	rs769955372	missense variant	-	NC_000003.12:g.55479319T>A	ExAC
WNT5A	P41221	p.Gln129His	rs1399911942	missense variant	-	NC_000003.12:g.55479318C>G	TOPMed
WNT5A	P41221	p.Arg133Leu	rs1300391603	missense variant	-	NC_000003.12:g.55474623C>A	TOPMed,gnomAD
WNT5A	P41221	p.Arg133His	rs1300391603	missense variant	-	NC_000003.12:g.55474623C>T	TOPMed,gnomAD
WNT5A	P41221	p.Thr135Met	rs550768554	missense variant	-	NC_000003.12:g.55474617G>A	1000Genomes,gnomAD
WNT5A	P41221	p.Thr135Lys	rs550768554	missense variant	-	NC_000003.12:g.55474617G>T	1000Genomes,gnomAD
WNT5A	P41221	p.Thr135Ser	rs774630162	missense variant	-	NC_000003.12:g.55474618T>A	ExAC,TOPMed
WNT5A	P41221	p.Thr138Ile	rs1162882250	missense variant	-	NC_000003.12:g.55474608G>A	gnomAD
WNT5A	P41221	p.Ala140Thr	rs1180776171	missense variant	-	NC_000003.12:g.55474603C>T	gnomAD
WNT5A	P41221	p.Ala140Glu	rs1435836716	missense variant	-	NC_000003.12:g.55474602G>T	gnomAD
WNT5A	P41221	p.Val141Leu	rs1439785154	missense variant	-	NC_000003.12:g.55474600C>A	TOPMed
WNT5A	P41221	p.Ala143Ser	rs998033323	missense variant	-	NC_000003.12:g.55474594C>A	TOPMed,gnomAD
WNT5A	P41221	p.Ala143Thr	rs998033323	missense variant	-	NC_000003.12:g.55474594C>T	TOPMed,gnomAD
WNT5A	P41221	p.Gly145Val	rs1326363656	missense variant	-	NC_000003.12:g.55474587C>A	gnomAD
WNT5A	P41221	p.Asn148Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55474579T>A	NCI-TCGA
WNT5A	P41221	p.Ala149Thr	rs1335027961	missense variant	-	NC_000003.12:g.55474576C>T	gnomAD
WNT5A	P41221	p.Ala149Ser	rs1335027961	missense variant	-	NC_000003.12:g.55474576C>A	gnomAD
WNT5A	P41221	p.Met150Leu	rs750679240	missense variant	-	NC_000003.12:g.55474573T>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Met150Val	rs750679240	missense variant	-	NC_000003.12:g.55474573T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Met150Ile	rs1168292086	missense variant	-	NC_000003.12:g.55474571C>G	TOPMed
WNT5A	P41221	p.Arg152Trp	rs1236488118	missense variant	-	NC_000003.12:g.55474567G>A	gnomAD
WNT5A	P41221	p.Ala153Val	rs1309688159	missense variant	-	NC_000003.12:g.55474563G>A	gnomAD
WNT5A	P41221	p.Arg155His	rs934590152	missense variant	-	NC_000003.12:g.55474557C>T	gnomAD
WNT5A	P41221	p.Arg155Gly	rs1052997621	missense variant	-	NC_000003.12:g.55474558G>C	TOPMed,gnomAD
WNT5A	P41221	p.Arg155Cys	rs1052997621	missense variant	-	NC_000003.12:g.55474558G>A	TOPMed,gnomAD
WNT5A	P41221	p.Glu156Gln	rs1403387925	missense variant	-	NC_000003.12:g.55474555C>G	TOPMed
WNT5A	P41221	p.Glu158Asp	rs1395367007	missense variant	-	NC_000003.12:g.55474547C>A	gnomAD
WNT5A	P41221	p.Ser160Cys	RCV000577882	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474542G>C	ClinVar
WNT5A	P41221	p.Ser160Cys	rs1553677971	missense variant	-	NC_000003.12:g.55474542G>C	-
WNT5A	P41221	p.Thr161Asn	rs776770401	missense variant	-	NC_000003.12:g.55474539G>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly163Arg	RCV000147988	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474534C>G	ClinVar
WNT5A	P41221	p.Gly163Arg	rs587784562	missense variant	-	NC_000003.12:g.55474534C>G	-
WNT5A	P41221	p.Arg166Cys	RCV000733923	missense variant	-	NC_000003.12:g.55474525G>A	ClinVar
WNT5A	P41221	p.Arg166His	rs747232175	missense variant	-	NC_000003.12:g.55474524C>T	ExAC,gnomAD
WNT5A	P41221	p.Ala167Thr	rs1182266890	missense variant	-	NC_000003.12:g.55474522C>T	gnomAD
WNT5A	P41221	p.Ala168Ser	rs572796263	missense variant	-	NC_000003.12:g.55474519C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala168Gly	rs778761167	missense variant	-	NC_000003.12:g.55474518G>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala168Val	rs778761167	missense variant	-	NC_000003.12:g.55474518G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala168Thr	rs572796263	missense variant	-	NC_000003.12:g.55474519C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Arg169Cys	rs754486525	missense variant	-	NC_000003.12:g.55474516G>A	ExAC,gnomAD
WNT5A	P41221	p.Lys171Glu	rs1352397840	missense variant	-	NC_000003.12:g.55474510T>C	gnomAD
WNT5A	P41221	p.Pro174Gln	rs753406752	missense variant	-	NC_000003.12:g.55474500G>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Pro174Ser	rs1241355638	missense variant	-	NC_000003.12:g.55474501G>A	gnomAD
WNT5A	P41221	p.Arg175Leu	rs755766054	missense variant	-	NC_000003.12:g.55474497C>A	ExAC,gnomAD
WNT5A	P41221	p.Trp177Ser	rs1231823028	missense variant	-	NC_000003.12:g.55474491C>G	TOPMed
WNT5A	P41221	p.Leu178Pro	rs1272834770	missense variant	-	NC_000003.12:g.55474488A>G	TOPMed
WNT5A	P41221	p.Gly181Ser	rs765913129	missense variant	-	NC_000003.12:g.55474480C>T	ExAC,gnomAD
WNT5A	P41221	p.Cys182Ser	RCV000192022	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474476C>G	ClinVar
WNT5A	P41221	p.Cys182Arg	RCV000022695	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474477A>G	ClinVar
WNT5A	P41221	p.Cys182Ser	rs869312850	missense variant	-	NC_000003.12:g.55474476C>G	-
WNT5A	P41221	p.Cys182Arg	rs387906663	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55474477A>G	UniProt,dbSNP
WNT5A	P41221	p.Cys182Arg	VAR_066629	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55474477A>G	UniProt
WNT5A	P41221	p.Cys182Arg	rs387906663	missense variant	-	NC_000003.12:g.55474477A>G	-
WNT5A	P41221	p.Gly183Ser	rs1393089710	missense variant	-	NC_000003.12:g.55474474C>T	TOPMed,gnomAD
WNT5A	P41221	p.Asp184Asn	COSM1424712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55474471C>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Asn185Ser	rs771010789	missense variant	-	NC_000003.12:g.55474467T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asp187Gly	rs747226594	missense variant	-	NC_000003.12:g.55474461T>C	ExAC,gnomAD
WNT5A	P41221	p.Asp187Asn	rs1454706587	missense variant	-	NC_000003.12:g.55474462C>T	TOPMed,gnomAD
WNT5A	P41221	p.Asp187Tyr	rs1454706587	missense variant	-	NC_000003.12:g.55474462C>A	TOPMed,gnomAD
WNT5A	P41221	p.Tyr190Ter	rs200263219	stop gained	-	NC_000003.12:g.55474451G>T	ExAC,gnomAD
WNT5A	P41221	p.Arg191Pro	rs771864079	missense variant	-	NC_000003.12:g.55474449C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Arg191Cys	rs1448321572	missense variant	-	NC_000003.12:g.55474450G>A	TOPMed,gnomAD
WNT5A	P41221	p.Arg191His	rs771864079	missense variant	-	NC_000003.12:g.55474449C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala193Thr	rs747867665	missense variant	-	NC_000003.12:g.55474444C>T	ExAC,gnomAD
WNT5A	P41221	p.Ala193Val	rs1347583578	missense variant	-	NC_000003.12:g.55474443G>A	gnomAD
WNT5A	P41221	p.Lys194Gln	rs754960119	missense variant	-	NC_000003.12:g.55474441T>G	ExAC,gnomAD
WNT5A	P41221	p.Lys194Glu	rs754960119	missense variant	-	NC_000003.12:g.55474441T>C	ExAC,gnomAD
WNT5A	P41221	p.Ala199Pro	rs181787192	missense variant	-	NC_000003.12:g.55474426C>G	1000Genomes,TOPMed,gnomAD
WNT5A	P41221	p.Ala199Thr	rs181787192	missense variant	-	NC_000003.12:g.55474426C>T	1000Genomes,TOPMed,gnomAD
WNT5A	P41221	p.Arg200His	rs750057475	missense variant	-	NC_000003.12:g.55474422C>T	ExAC,gnomAD
WNT5A	P41221	p.Arg200Leu	rs750057475	missense variant	-	NC_000003.12:g.55474422C>A	ExAC,gnomAD
WNT5A	P41221	p.Arg200Gly	rs988058834	missense variant	-	NC_000003.12:g.55474423G>C	TOPMed
WNT5A	P41221	p.Arg202Trp	COSM4741425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55474417G>A	NCI-TCGA Cosmic
WNT5A	P41221	p.Glu203Gln	rs1414414180	missense variant	-	NC_000003.12:g.55474414C>G	gnomAD
WNT5A	P41221	p.Arg204His	rs866738848	missense variant	-	NC_000003.12:g.55474410C>T	gnomAD
WNT5A	P41221	p.Ile205Thr	rs753171819	missense variant	-	NC_000003.12:g.55474407A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala207Ser	rs760160092	missense variant	-	NC_000003.12:g.55474402C>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Lys208Glu	rs777155530	missense variant	-	NC_000003.12:g.55474399T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ser210Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55474392G>A	NCI-TCGA
WNT5A	P41221	p.Glu212Gly	rs1484487400	missense variant	-	NC_000003.12:g.55474386T>C	gnomAD
WNT5A	P41221	p.Glu212Lys	rs766388444	missense variant	-	NC_000003.12:g.55474387C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Glu212Asp	rs760747132	missense variant	-	NC_000003.12:g.55474385C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala214Thr	rs1293009430	missense variant	-	NC_000003.12:g.55474381C>T	TOPMed
WNT5A	P41221	p.Ala214Gly	rs773308486	missense variant	-	NC_000003.12:g.55474380G>C	ExAC,gnomAD
WNT5A	P41221	p.Arg215Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55474378G>A	NCI-TCGA
WNT5A	P41221	p.Arg215His	rs1272969340	missense variant	-	NC_000003.12:g.55474377C>T	gnomAD
WNT5A	P41221	p.Ile216Met	rs1213352508	missense variant	-	NC_000003.12:g.55474373G>C	gnomAD
WNT5A	P41221	p.Leu217Phe	rs1341494143	missense variant	-	NC_000003.12:g.55474372G>A	gnomAD
WNT5A	P41221	p.Met218Ile	rs963662325	missense variant	-	NC_000003.12:g.55474367C>G	TOPMed
WNT5A	P41221	p.Met218Val	rs1232898551	missense variant	-	NC_000003.12:g.55474369T>C	gnomAD
WNT5A	P41221	p.Asn222Ser	rs1448534007	missense variant	-	NC_000003.12:g.55474356T>C	gnomAD
WNT5A	P41221	p.Asn223Lys	rs762002827	missense variant	-	NC_000003.12:g.55474352G>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly226Asp	COSM1471641	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55474344C>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Arg227His	COSM1424710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55474341C>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Arg228Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55474338C>T	NCI-TCGA
WNT5A	P41221	p.Thr229Ala	RCV000385244	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55470550T>C	ClinVar
WNT5A	P41221	p.Thr229Ala	rs886058744	missense variant	-	NC_000003.12:g.55470550T>C	gnomAD
WNT5A	P41221	p.Thr229Met	rs769829279	missense variant	-	NC_000003.12:g.55470549G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Tyr231His	rs770524527	missense variant	-	NC_000003.12:g.55470544A>G	ExAC,gnomAD
WNT5A	P41221	p.Tyr231Cys	rs376640377	missense variant	-	NC_000003.12:g.55470543T>C	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asn232Ser	rs777506252	missense variant	-	NC_000003.12:g.55470540T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala234Gly	rs755298105	missense variant	-	NC_000003.12:g.55470534G>C	ExAC,gnomAD
WNT5A	P41221	p.Lys239Arg	rs1302532308	missense variant	-	NC_000003.12:g.55470519T>C	gnomAD
WNT5A	P41221	p.His241Arg	rs181181287	missense variant	-	NC_000003.12:g.55470513T>C	1000Genomes
WNT5A	P41221	p.Ser248Gly	rs780265576	missense variant	-	NC_000003.12:g.55470493T>C	ExAC,gnomAD
WNT5A	P41221	p.Trp253Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55470477C>A	NCI-TCGA
WNT5A	P41221	p.Gln255Glu	rs761827056	missense variant	-	NC_000003.12:g.55470472G>C	ExAC,gnomAD
WNT5A	P41221	p.Phe259Leu	rs1269552696	missense variant	-	NC_000003.12:g.55470460A>G	gnomAD
WNT5A	P41221	p.Arg260Cys	rs201567461	missense variant	-	NC_000003.12:g.55470457G>A	ExAC,gnomAD
WNT5A	P41221	p.Arg260Leu	rs1485651707	missense variant	-	NC_000003.12:g.55470456C>A	gnomAD
WNT5A	P41221	p.Arg260Leu	RCV000733943	missense variant	-	NC_000003.12:g.55470456C>A	ClinVar
WNT5A	P41221	p.Ala265Thr	rs1354084512	missense variant	-	NC_000003.12:g.55470442C>T	gnomAD
WNT5A	P41221	p.Ala265Val	rs373379669	missense variant	-	NC_000003.12:g.55470441G>A	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Glu268Gln	rs1350037873	missense variant	-	NC_000003.12:g.55470433C>G	gnomAD
WNT5A	P41221	p.Lys269Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55470429T>G	NCI-TCGA
WNT5A	P41221	p.Asp271Asn	rs1359294973	missense variant	-	NC_000003.12:g.55470424C>T	gnomAD
WNT5A	P41221	p.Asp271Gly	rs770577961	missense variant	-	NC_000003.12:g.55470423T>C	ExAC,gnomAD
WNT5A	P41221	p.Ser272Arg	rs377043203	missense variant	-	NC_000003.12:g.55470419G>T	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala273Val	rs771812000	missense variant	-	NC_000003.12:g.55470417G>A	ExAC,gnomAD
WNT5A	P41221	p.Ala273Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55470418C>T	NCI-TCGA
WNT5A	P41221	p.Ala274Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55470414G>A	NCI-TCGA
WNT5A	P41221	p.Ala275Val	rs746392030	missense variant	-	NC_000003.12:g.55470411G>A	ExAC,gnomAD
WNT5A	P41221	p.Ala275Thr	rs546706293	missense variant	-	NC_000003.12:g.55470412C>T	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Met276Leu	rs1182422577	missense variant	-	NC_000003.12:g.55470409T>A	gnomAD
WNT5A	P41221	p.Arg277Trp	rs866667950	missense variant	-	NC_000003.12:g.55470406G>A	gnomAD
WNT5A	P41221	p.Arg277Gln	rs369954366	missense variant	-	NC_000003.12:g.55470405C>T	ESP,TOPMed
WNT5A	P41221	p.Asn279Ser	rs1488780337	missense variant	-	NC_000003.12:g.55470399T>C	gnomAD
WNT5A	P41221	p.Ser280Asn	RCV000381699	missense variant	-	NC_000003.12:g.55470396C>T	ClinVar
WNT5A	P41221	p.Ser280Asn	rs886042717	missense variant	-	NC_000003.12:g.55470396C>T	-
WNT5A	P41221	p.Arg281Gln	rs751696945	missense variant	-	NC_000003.12:g.55470393C>T	ExAC,gnomAD
WNT5A	P41221	p.Arg281Trp	rs533153165	missense variant	-	NC_000003.12:g.55470394G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly282Val	rs1484178482	missense variant	-	NC_000003.12:g.55470390C>A	TOPMed,gnomAD
WNT5A	P41221	p.Lys283Arg	rs1256476123	missense variant	-	NC_000003.12:g.55470387T>C	gnomAD
WNT5A	P41221	p.Leu284Val	rs375403509	missense variant	-	NC_000003.12:g.55470385A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Val285Ile	rs1305199053	missense variant	-	NC_000003.12:g.55470382C>T	gnomAD
WNT5A	P41221	p.Gln286Arg	rs758690185	missense variant	-	NC_000003.12:g.55470378T>C	ExAC
WNT5A	P41221	p.Gln286His	COSM6165340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470377C>A	NCI-TCGA Cosmic
WNT5A	P41221	p.Val287Leu	rs1297105774	missense variant	-	NC_000003.12:g.55470376C>G	gnomAD
WNT5A	P41221	p.Ser289Asn	rs1354491206	missense variant	-	NC_000003.12:g.55470369C>T	gnomAD
WNT5A	P41221	p.Arg290Leu	rs765101926	missense variant	-	NC_000003.12:g.55470366C>A	ExAC,gnomAD
WNT5A	P41221	p.Arg290His	rs765101926	missense variant	-	NC_000003.12:g.55470366C>T	ExAC,gnomAD
WNT5A	P41221	p.Arg290Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55470367G>A	NCI-TCGA
WNT5A	P41221	p.Asn292His	rs1413364471	missense variant	-	NC_000003.12:g.55470361T>G	gnomAD
WNT5A	P41221	p.Asn292Ser	rs1404834929	missense variant	-	NC_000003.12:g.55470360T>C	gnomAD
WNT5A	P41221	p.Ser293Leu	rs759194223	missense variant	-	NC_000003.12:g.55470357G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Thr295Ile	rs1277424205	missense variant	-	NC_000003.12:g.55470351G>A	TOPMed
WNT5A	P41221	p.Thr296Ile	rs760675240	missense variant	-	NC_000003.12:g.55470348G>A	ExAC,gnomAD
WNT5A	P41221	p.Gln297Glu	rs772896188	missense variant	-	NC_000003.12:g.55470346G>C	ExAC,gnomAD
WNT5A	P41221	p.Gln297Ter	rs772896188	stop gained	-	NC_000003.12:g.55470346G>A	ExAC,gnomAD
WNT5A	P41221	p.Asp298Asn	rs771445451	missense variant	-	NC_000003.12:g.55470343C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Val300Phe	rs747860258	missense variant	-	NC_000003.12:g.55470337C>A	ExAC
WNT5A	P41221	p.Tyr301Phe	rs773819361	missense variant	-	NC_000003.12:g.55470333T>A	ExAC,gnomAD
WNT5A	P41221	p.Ile302Val	rs770199302	missense variant	-	NC_000003.12:g.55470331T>C	ExAC,gnomAD
WNT5A	P41221	p.Asp303Asn	rs781527130	missense variant	-	NC_000003.12:g.55470328C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asp303His	rs781527130	missense variant	-	NC_000003.12:g.55470328C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Pro304His	rs757813200	missense variant	-	NC_000003.12:g.55470324G>T	ExAC,gnomAD
WNT5A	P41221	p.Pro304Leu	rs757813200	missense variant	-	NC_000003.12:g.55470324G>A	ExAC,gnomAD
WNT5A	P41221	p.Cys309Gly	rs747485846	missense variant	-	NC_000003.12:g.55470310A>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Cys309Arg	rs747485846	missense variant	-	NC_000003.12:g.55470310A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Cys309Trp	COSM1047421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470308G>C	NCI-TCGA Cosmic
WNT5A	P41221	p.Val310Met	COSM192113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470307C>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Val310Ala	rs758357805	missense variant	-	NC_000003.12:g.55470306A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Val310Leu	rs777938109	missense variant	-	NC_000003.12:g.55470307C>G	ExAC,gnomAD
WNT5A	P41221	p.Arg311Leu	rs752974227	missense variant	-	NC_000003.12:g.55470303C>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Arg311His	COSM1047420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470303C>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Arg311Cys	rs1189964563	missense variant	-	NC_000003.12:g.55470304G>A	TOPMed
WNT5A	P41221	p.Arg311Pro	rs752974227	missense variant	-	NC_000003.12:g.55470303C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asn312Ser	rs1469870275	missense variant	-	NC_000003.12:g.55470300T>C	TOPMed
WNT5A	P41221	p.Glu313Lys	rs369701725	missense variant	-	NC_000003.12:g.55470298C>T	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Thr315Asn	rs931674113	missense variant	-	NC_000003.12:g.55470291G>T	TOPMed
WNT5A	P41221	p.Gly316Ser	COSM2781238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470289C>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Gly316Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55470288C>T	NCI-TCGA
WNT5A	P41221	p.Ser317Leu	rs755247138	missense variant	-	NC_000003.12:g.55470285G>A	ExAC,gnomAD
WNT5A	P41221	p.Gly319Asp	COSM1424709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470279C>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Thr320Met	rs922958622	missense variant	-	NC_000003.12:g.55470276G>A	TOPMed
WNT5A	P41221	p.Gln321Arg	rs946840827	missense variant	-	NC_000003.12:g.55470273T>C	TOPMed,gnomAD
WNT5A	P41221	p.Asn326Ser	rs1368827765	missense variant	-	NC_000003.12:g.55470258T>C	TOPMed,gnomAD
WNT5A	P41221	p.Asn326Asp	rs373282952	missense variant	-	NC_000003.12:g.55470259T>C	ESP,ExAC,gnomAD
WNT5A	P41221	p.Lys327Arg	rs750281702	missense variant	-	NC_000003.12:g.55470255T>C	ExAC,gnomAD
WNT5A	P41221	p.Thr328Met	RCV000289666	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55470252G>A	ClinVar
WNT5A	P41221	p.Thr328Ala	rs767068436	missense variant	-	NC_000003.12:g.55470253T>C	ExAC,gnomAD
WNT5A	P41221	p.Thr328Met	rs201975128	missense variant	-	NC_000003.12:g.55470252G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ser329Leu	rs375700896	missense variant	-	NC_000003.12:g.55470249G>A	ESP,ExAC,gnomAD
WNT5A	P41221	p.Ser329Thr	rs1263066189	missense variant	-	NC_000003.12:g.55470250A>T	TOPMed
WNT5A	P41221	p.Gly331Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55470243C>T	NCI-TCGA
WNT5A	P41221	p.Met332Val	rs768254997	missense variant	-	NC_000003.12:g.55470241T>C	ExAC,gnomAD
WNT5A	P41221	p.Met332Leu	rs768254997	missense variant	-	NC_000003.12:g.55470241T>G	ExAC,gnomAD
WNT5A	P41221	p.Gly334Asp	COSM4119411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470234C>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Gly334Cys	rs1356686397	missense variant	-	NC_000003.12:g.55470235C>A	gnomAD
WNT5A	P41221	p.Glu336Lys	rs542775163	missense variant	-	NC_000003.12:g.55470229C>T	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Glu336Gly	rs771248572	missense variant	-	NC_000003.12:g.55470228T>C	ExAC,gnomAD
WNT5A	P41221	p.Gly341Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.55470214C>A	NCI-TCGA
WNT5A	P41221	p.Gly341Ser	rs1370251695	missense variant	-	NC_000003.12:g.55470214C>T	gnomAD
WNT5A	P41221	p.Arg342Gly	rs747534689	missense variant	-	NC_000003.12:g.55470211G>C	ExAC,gnomAD
WNT5A	P41221	p.Asp345His	rs1407280678	missense variant	-	NC_000003.12:g.55470202C>G	TOPMed,gnomAD
WNT5A	P41221	p.Asp345Asn	COSM3916474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470202C>T	NCI-TCGA Cosmic
WNT5A	P41221	p.Gln346Lys	rs573691468	missense variant	-	NC_000003.12:g.55470199G>T	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Phe347Leu	rs1182836998	missense variant	-	NC_000003.12:g.55470194G>T	TOPMed
WNT5A	P41221	p.Val350Met	rs779036055	missense variant	-	NC_000003.12:g.55470187C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gln351Leu	RCV000434129	missense variant	-	NC_000003.12:g.55470183T>A	ClinVar
WNT5A	P41221	p.Gln351Arg	rs1057524412	missense variant	-	NC_000003.12:g.55470183T>C	gnomAD
WNT5A	P41221	p.Gln351Leu	rs1057524412	missense variant	-	NC_000003.12:g.55470183T>A	gnomAD
WNT5A	P41221	p.Thr352Met	rs755298573	missense variant	-	NC_000003.12:g.55470180G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.His356Tyr	rs1467578208	missense variant	-	NC_000003.12:g.55470169G>A	TOPMed
WNT5A	P41221	p.Lys358Met	rs780019128	missense variant	-	NC_000003.12:g.55470162T>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Lys358Arg	rs780019128	missense variant	-	NC_000003.12:g.55470162T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Cys362Arg	COSM1047419	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470151A>G	NCI-TCGA Cosmic
WNT5A	P41221	p.Tyr364Cys	rs1260562227	missense variant	-	NC_000003.12:g.55470144T>C	gnomAD
WNT5A	P41221	p.Val365Ile	rs1410287718	missense variant	-	NC_000003.12:g.55470142C>T	TOPMed
WNT5A	P41221	p.Val365Leu	COSM420340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.55470142C>G	NCI-TCGA Cosmic
WNT5A	P41221	p.Lys366Gln	rs553825428	missense variant	-	NC_000003.12:g.55470139T>G	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Cys370Arg	rs767422181	missense variant	-	NC_000003.12:g.55470127A>G	ExAC,gnomAD
WNT5A	P41221	p.Thr371Ala	rs761800959	missense variant	-	NC_000003.12:g.55470124T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Thr371Met	rs984934479	missense variant	-	NC_000003.12:g.55470123G>A	TOPMed,gnomAD
WNT5A	P41221	p.Glu372Asp	rs762481849	missense variant	-	NC_000003.12:g.55470119C>G	gnomAD
WNT5A	P41221	p.Val374Met	rs1346821075	missense variant	-	NC_000003.12:g.55470115C>T	TOPMed
WNT5A	P41221	p.Asp375Asn	rs763566950	missense variant	-	NC_000003.12:g.55470112C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gln376Arg	rs1344347590	missense variant	-	NC_000003.12:g.55470108T>C	gnomAD
WNT5A	P41221	p.Gln376His	rs775072555	missense variant	-	NC_000003.12:g.55470107C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Phe377Leu	rs771295790	missense variant	-	NC_000003.12:g.55470104A>C	ExAC,gnomAD
WNT5A	P41221	p.Lys380Arg	rs1362145507	missense variant	-	NC_000003.12:g.55470096T>C	gnomAD
WNT5A	P41221	p.Ile5Thr	RCV000363742	missense variant	-	NC_000003.12:g.55480911A>G	ClinVar
WNT5A	P41221	p.Ile5Val	rs370383438	missense variant	-	NC_000003.12:g.55480912T>C	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile5Ser	rs200914260	missense variant	-	NC_000003.12:g.55480911A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile5Phe	rs370383438	missense variant	-	NC_000003.12:g.55480912T>A	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile5Thr	rs200914260	missense variant	-	NC_000003.12:g.55480911A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly6Glu	rs776543464	missense variant	-	NC_000003.12:g.55480908C>T	ExAC,gnomAD
WNT5A	P41221	p.Gly6Arg	rs1292414238	missense variant	-	NC_000003.12:g.55480909C>T	TOPMed
WNT5A	P41221	p.Ile7Thr	rs554762368	missense variant	-	NC_000003.12:g.55480905A>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile7Leu	rs183555808	missense variant	-	NC_000003.12:g.55480906T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly11Arg	rs1319138082	missense variant	-	NC_000003.12:g.55480894C>T	gnomAD
WNT5A	P41221	p.Val12Ala	rs1414051938	missense variant	-	NC_000003.12:g.55480890A>G	gnomAD
WNT5A	P41221	p.Ala13Pro	rs1400348463	missense variant	-	NC_000003.12:g.55480888C>G	gnomAD
WNT5A	P41221	p.Leu14Ser	RCV000311901	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55480884A>G	ClinVar
WNT5A	P41221	p.Leu14Ser	rs886058746	missense variant	-	NC_000003.12:g.55480884A>G	-
WNT5A	P41221	p.Gly15Trp	rs867828828	missense variant	-	NC_000003.12:g.55480882C>A	TOPMed,gnomAD
WNT5A	P41221	p.Gly15Glu	rs778287090	missense variant	-	NC_000003.12:g.55480881C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly18Ala	rs1389369896	missense variant	-	NC_000003.12:g.55480872C>G	TOPMed,gnomAD
WNT5A	P41221	p.Ala20Thr	rs1476385299	missense variant	-	NC_000003.12:g.55480867C>T	TOPMed,gnomAD
WNT5A	P41221	p.Met21Val	rs1242190462	missense variant	-	NC_000003.12:g.55480864T>C	TOPMed,gnomAD
WNT5A	P41221	p.Met21Leu	rs1242190462	missense variant	-	NC_000003.12:g.55480864T>A	TOPMed,gnomAD
WNT5A	P41221	p.Met21Thr	rs748871825	missense variant	-	NC_000003.12:g.55480863A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Lys24Gln	rs1399954454	missense variant	-	NC_000003.12:g.55480855T>G	TOPMed
WNT5A	P41221	p.Phe26Ser	rs908288616	missense variant	-	NC_000003.12:g.55480848A>G	TOPMed
WNT5A	P41221	p.Leu27Pro	rs149311661	missense variant	-	NC_000003.12:g.55480845A>G	1000Genomes,gnomAD
WNT5A	P41221	p.Leu27Ile	rs781650629	missense variant	-	NC_000003.12:g.55480846G>T	ExAC
WNT5A	P41221	p.Leu30Ser	rs1340579712	missense variant	-	NC_000003.12:g.55480836A>G	TOPMed
WNT5A	P41221	p.Ala31Val	rs371157119	missense variant	-	NC_000003.12:g.55480833G>A	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile32Met	rs1213316012	missense variant	-	NC_000003.12:g.55480829T>C	gnomAD
WNT5A	P41221	p.Ile32Val	rs752083941	missense variant	-	NC_000003.12:g.55480831T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ser35Phe	RCV000595735	missense variant	-	NC_000003.12:g.55480821G>A	ClinVar
WNT5A	P41221	p.Ser35Phe	rs1553679404	missense variant	-	NC_000003.12:g.55480821G>A	-
WNT5A	P41221	p.Phe36Ile	rs1270786128	missense variant	-	NC_000003.12:g.55480819A>T	gnomAD
WNT5A	P41221	p.Phe36Leu	rs374082538	missense variant	-	NC_000003.12:g.55480817G>C	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala37Gly	rs190451046	missense variant	-	NC_000003.12:g.55480815G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala37Gly	RCV000395223	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55480815G>C	ClinVar
WNT5A	P41221	p.Gln38His	rs1435625630	missense variant	-	NC_000003.12:g.55480811C>G	gnomAD
WNT5A	P41221	p.Val39Ile	rs1369701937	missense variant	-	NC_000003.12:g.55480810C>T	TOPMed,gnomAD
WNT5A	P41221	p.Val39Leu	rs1369701937	missense variant	-	NC_000003.12:g.55480810C>G	TOPMed,gnomAD
WNT5A	P41221	p.Ile41Thr	rs765217843	missense variant	-	NC_000003.12:g.55480803A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ile41Met	rs1411528153	missense variant	-	NC_000003.12:g.55480802A>C	gnomAD
WNT5A	P41221	p.Asn44Lys	rs186124369	missense variant	-	NC_000003.12:g.55480793A>C	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asn44Lys	rs186124369	missense variant	-	NC_000003.12:g.55480793A>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asn44Ser	rs1025253935	missense variant	-	NC_000003.12:g.55480794T>C	TOPMed,gnomAD
WNT5A	P41221	p.Asn44Ile	rs1025253935	missense variant	-	NC_000003.12:g.55480794T>A	TOPMed,gnomAD
WNT5A	P41221	p.Trp46Ter	rs1439009595	stop gained	-	NC_000003.12:g.55480787C>T	TOPMed
WNT5A	P41221	p.Ser48Leu	rs369165725	missense variant	-	NC_000003.12:g.55479562G>A	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Met51Val	rs1289051164	missense variant	-	NC_000003.12:g.55479554T>C	gnomAD
WNT5A	P41221	p.Asn53Lys	rs767356554	missense variant	-	NC_000003.12:g.55479546G>T	ExAC,gnomAD
WNT5A	P41221	p.Val55Gly	rs761851847	missense variant	-	NC_000003.12:g.55479541A>C	ExAC,TOPMed
WNT5A	P41221	p.Met57Thr	rs759185001	missense variant	-	NC_000003.12:g.55479535A>G	ExAC,gnomAD
WNT5A	P41221	p.Val60Ile	rs1033182214	missense variant	-	NC_000003.12:g.55479527C>T	TOPMed,gnomAD
WNT5A	P41221	p.Val60Ala	rs763684509	missense variant	-	NC_000003.12:g.55479526A>G	ExAC,gnomAD
WNT5A	P41221	p.Ile63Met	rs1409168290	missense variant	-	NC_000003.12:g.55479516T>C	gnomAD
WNT5A	P41221	p.Ile63Val	rs769500757	missense variant	-	NC_000003.12:g.55479518T>C	ExAC,gnomAD
WNT5A	P41221	p.Ala65Ser	rs745505762	missense variant	-	NC_000003.12:g.55479512C>A	ExAC,gnomAD
WNT5A	P41221	p.Cys69Tyr	RCV000169741	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55479499C>T	ClinVar
WNT5A	P41221	p.Cys69Tyr	rs786204837	missense variant	-	NC_000003.12:g.55479499C>T	-
WNT5A	P41221	p.Leu72Val	rs748715879	missense variant	-	NC_000003.12:g.55479491G>C	ExAC,gnomAD
WNT5A	P41221	p.Gly74Arg	rs1218199102	missense variant	-	NC_000003.12:g.55479485C>G	gnomAD
WNT5A	P41221	p.Gln79Glu	rs1317822537	missense variant	-	NC_000003.12:g.55479470G>C	gnomAD
WNT5A	P41221	p.Lys80Asn	rs373494821	missense variant	-	NC_000003.12:g.55479465C>G	ESP,ExAC,gnomAD
WNT5A	P41221	p.Cys83Ser	RCV000022696	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55479457C>G	ClinVar
WNT5A	P41221	p.Cys83Ser	rs786200925	missense variant	-	NC_000003.12:g.55479457C>G	-
WNT5A	P41221	p.Cys83Ser	rs786200925	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55479457C>G	UniProt,dbSNP
WNT5A	P41221	p.Cys83Ser	VAR_066623	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55479457C>G	UniProt
WNT5A	P41221	p.His84Leu	rs749398374	missense variant	-	NC_000003.12:g.55479454T>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Leu85Phe	rs1304024029	missense variant	-	NC_000003.12:g.55479450C>A	gnomAD
WNT5A	P41221	p.Tyr86Cys	rs786204836	missense variant	-	NC_000003.12:g.55479448T>C	-
WNT5A	P41221	p.Tyr86Cys	RCV000169740	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55479448T>C	ClinVar
WNT5A	P41221	p.Gln87Glu	rs780270891	missense variant	-	NC_000003.12:g.55479446G>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gln87Ter	rs780270891	stop gained	-	NC_000003.12:g.55479446G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Met90Val	rs1214041901	missense variant	-	NC_000003.12:g.55479437T>C	TOPMed
WNT5A	P41221	p.Ile93Val	rs750646727	missense variant	-	NC_000003.12:g.55479428T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly96Val	rs1358232825	missense variant	-	NC_000003.12:g.55479418C>A	gnomAD
WNT5A	P41221	p.Ala97Thr	rs763870268	missense variant	-	NC_000003.12:g.55479416C>T	ExAC,gnomAD
WNT5A	P41221	p.Lys98Asn	rs1194784391	missense variant	-	NC_000003.12:g.55479411C>A	gnomAD
WNT5A	P41221	p.Thr99Ile	rs538890462	missense variant	-	NC_000003.12:g.55479409G>A	ExAC,gnomAD
WNT5A	P41221	p.Gly100Asp	rs527941562	missense variant	-	NC_000003.12:g.55479406C>T	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Lys102Arg	rs375233428	missense variant	-	NC_000003.12:g.55479400T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gln105Arg	rs751543743	missense variant	-	NC_000003.12:g.55479391T>C	ExAC,gnomAD
WNT5A	P41221	p.Gln105Leu	rs751543743	missense variant	-	NC_000003.12:g.55479391T>A	ExAC,gnomAD
WNT5A	P41221	p.Arg109Gln	rs371892633	missense variant	-	NC_000003.12:g.55479379C>T	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.His110Leu	rs1280851148	missense variant	-	NC_000003.12:g.55479376T>A	gnomAD
WNT5A	P41221	p.His110Tyr	rs1349752707	missense variant	-	NC_000003.12:g.55479377G>A	gnomAD
WNT5A	P41221	p.Cys115Gly	rs1157131307	missense variant	-	NC_000003.12:g.55479362A>C	TOPMed
WNT5A	P41221	p.Asp119Asn	rs774776699	missense variant	-	NC_000003.12:g.55479350C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asn120Lys	rs769103194	missense variant	-	NC_000003.12:g.55479345G>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Thr121Ile	rs1026265548	missense variant	-	NC_000003.12:g.55479343G>A	TOPMed
WNT5A	P41221	p.Ser122Pro	rs749783441	missense variant	-	NC_000003.12:g.55479341A>G	ExAC,gnomAD
WNT5A	P41221	p.Val123Ile	rs780324252	missense variant	-	NC_000003.12:g.55479338C>T	ExAC,gnomAD
WNT5A	P41221	p.Met128Thr	rs1377642864	missense variant	-	NC_000003.12:g.55479322A>G	gnomAD
WNT5A	P41221	p.Gln129Leu	rs769955372	missense variant	-	NC_000003.12:g.55479319T>A	ExAC
WNT5A	P41221	p.Gln129His	rs1399911942	missense variant	-	NC_000003.12:g.55479318C>G	TOPMed
WNT5A	P41221	p.Arg133Leu	rs1300391603	missense variant	-	NC_000003.12:g.55474623C>A	TOPMed,gnomAD
WNT5A	P41221	p.Arg133His	rs1300391603	missense variant	-	NC_000003.12:g.55474623C>T	TOPMed,gnomAD
WNT5A	P41221	p.Thr135Met	rs550768554	missense variant	-	NC_000003.12:g.55474617G>A	1000Genomes,gnomAD
WNT5A	P41221	p.Thr135Lys	rs550768554	missense variant	-	NC_000003.12:g.55474617G>T	1000Genomes,gnomAD
WNT5A	P41221	p.Thr135Ser	rs774630162	missense variant	-	NC_000003.12:g.55474618T>A	ExAC,TOPMed
WNT5A	P41221	p.Thr138Ile	rs1162882250	missense variant	-	NC_000003.12:g.55474608G>A	gnomAD
WNT5A	P41221	p.Ala140Thr	rs1180776171	missense variant	-	NC_000003.12:g.55474603C>T	gnomAD
WNT5A	P41221	p.Ala140Glu	rs1435836716	missense variant	-	NC_000003.12:g.55474602G>T	gnomAD
WNT5A	P41221	p.Val141Leu	rs1439785154	missense variant	-	NC_000003.12:g.55474600C>A	TOPMed
WNT5A	P41221	p.Ala143Ser	rs998033323	missense variant	-	NC_000003.12:g.55474594C>A	TOPMed,gnomAD
WNT5A	P41221	p.Ala143Thr	rs998033323	missense variant	-	NC_000003.12:g.55474594C>T	TOPMed,gnomAD
WNT5A	P41221	p.Gly145Val	rs1326363656	missense variant	-	NC_000003.12:g.55474587C>A	gnomAD
WNT5A	P41221	p.Ala149Thr	rs1335027961	missense variant	-	NC_000003.12:g.55474576C>T	gnomAD
WNT5A	P41221	p.Ala149Ser	rs1335027961	missense variant	-	NC_000003.12:g.55474576C>A	gnomAD
WNT5A	P41221	p.Met150Val	rs750679240	missense variant	-	NC_000003.12:g.55474573T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Met150Leu	rs750679240	missense variant	-	NC_000003.12:g.55474573T>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Met150Ile	rs1168292086	missense variant	-	NC_000003.12:g.55474571C>G	TOPMed
WNT5A	P41221	p.Arg152Trp	rs1236488118	missense variant	-	NC_000003.12:g.55474567G>A	gnomAD
WNT5A	P41221	p.Ala153Val	rs1309688159	missense variant	-	NC_000003.12:g.55474563G>A	gnomAD
WNT5A	P41221	p.Arg155His	rs934590152	missense variant	-	NC_000003.12:g.55474557C>T	gnomAD
WNT5A	P41221	p.Arg155Cys	rs1052997621	missense variant	-	NC_000003.12:g.55474558G>A	TOPMed,gnomAD
WNT5A	P41221	p.Arg155Gly	rs1052997621	missense variant	-	NC_000003.12:g.55474558G>C	TOPMed,gnomAD
WNT5A	P41221	p.Glu156Gln	rs1403387925	missense variant	-	NC_000003.12:g.55474555C>G	TOPMed
WNT5A	P41221	p.Glu158Asp	rs1395367007	missense variant	-	NC_000003.12:g.55474547C>A	gnomAD
WNT5A	P41221	p.Ser160Cys	RCV000577882	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474542G>C	ClinVar
WNT5A	P41221	p.Ser160Cys	rs1553677971	missense variant	-	NC_000003.12:g.55474542G>C	-
WNT5A	P41221	p.Thr161Asn	rs776770401	missense variant	-	NC_000003.12:g.55474539G>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly163Arg	RCV000147988	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474534C>G	ClinVar
WNT5A	P41221	p.Gly163Arg	rs587784562	missense variant	-	NC_000003.12:g.55474534C>G	-
WNT5A	P41221	p.Arg166Cys	RCV000733923	missense variant	-	NC_000003.12:g.55474525G>A	ClinVar
WNT5A	P41221	p.Arg166His	rs747232175	missense variant	-	NC_000003.12:g.55474524C>T	ExAC,gnomAD
WNT5A	P41221	p.Ala167Thr	rs1182266890	missense variant	-	NC_000003.12:g.55474522C>T	gnomAD
WNT5A	P41221	p.Ala168Ser	rs572796263	missense variant	-	NC_000003.12:g.55474519C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala168Thr	rs572796263	missense variant	-	NC_000003.12:g.55474519C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala168Val	rs778761167	missense variant	-	NC_000003.12:g.55474518G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala168Gly	rs778761167	missense variant	-	NC_000003.12:g.55474518G>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Arg169Cys	rs754486525	missense variant	-	NC_000003.12:g.55474516G>A	ExAC,gnomAD
WNT5A	P41221	p.Lys171Glu	rs1352397840	missense variant	-	NC_000003.12:g.55474510T>C	gnomAD
WNT5A	P41221	p.Pro174Gln	rs753406752	missense variant	-	NC_000003.12:g.55474500G>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Pro174Ser	rs1241355638	missense variant	-	NC_000003.12:g.55474501G>A	gnomAD
WNT5A	P41221	p.Arg175Leu	rs755766054	missense variant	-	NC_000003.12:g.55474497C>A	ExAC,gnomAD
WNT5A	P41221	p.Trp177Ser	rs1231823028	missense variant	-	NC_000003.12:g.55474491C>G	TOPMed
WNT5A	P41221	p.Leu178Pro	rs1272834770	missense variant	-	NC_000003.12:g.55474488A>G	TOPMed
WNT5A	P41221	p.Gly181Ser	rs765913129	missense variant	-	NC_000003.12:g.55474480C>T	ExAC,gnomAD
WNT5A	P41221	p.Cys182Arg	RCV000022695	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474477A>G	ClinVar
WNT5A	P41221	p.Cys182Ser	RCV000192022	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55474476C>G	ClinVar
WNT5A	P41221	p.Cys182Ser	rs869312850	missense variant	-	NC_000003.12:g.55474476C>G	-
WNT5A	P41221	p.Cys182Arg	rs387906663	missense variant	-	NC_000003.12:g.55474477A>G	-
WNT5A	P41221	p.Cys182Arg	rs387906663	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55474477A>G	UniProt,dbSNP
WNT5A	P41221	p.Cys182Arg	VAR_066629	missense variant	Robinow syndrome, autosomal dominant 1 (DRS1)	NC_000003.12:g.55474477A>G	UniProt
WNT5A	P41221	p.Gly183Ser	rs1393089710	missense variant	-	NC_000003.12:g.55474474C>T	TOPMed,gnomAD
WNT5A	P41221	p.Asn185Ser	rs771010789	missense variant	-	NC_000003.12:g.55474467T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asp187Asn	rs1454706587	missense variant	-	NC_000003.12:g.55474462C>T	TOPMed,gnomAD
WNT5A	P41221	p.Asp187Gly	rs747226594	missense variant	-	NC_000003.12:g.55474461T>C	ExAC,gnomAD
WNT5A	P41221	p.Asp187Tyr	rs1454706587	missense variant	-	NC_000003.12:g.55474462C>A	TOPMed,gnomAD
WNT5A	P41221	p.Tyr190Ter	rs200263219	stop gained	-	NC_000003.12:g.55474451G>T	ExAC,gnomAD
WNT5A	P41221	p.Arg191Pro	rs771864079	missense variant	-	NC_000003.12:g.55474449C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Arg191Cys	rs1448321572	missense variant	-	NC_000003.12:g.55474450G>A	TOPMed,gnomAD
WNT5A	P41221	p.Arg191His	rs771864079	missense variant	-	NC_000003.12:g.55474449C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala193Val	rs1347583578	missense variant	-	NC_000003.12:g.55474443G>A	gnomAD
WNT5A	P41221	p.Ala193Thr	rs747867665	missense variant	-	NC_000003.12:g.55474444C>T	ExAC,gnomAD
WNT5A	P41221	p.Lys194Gln	rs754960119	missense variant	-	NC_000003.12:g.55474441T>G	ExAC,gnomAD
WNT5A	P41221	p.Lys194Glu	rs754960119	missense variant	-	NC_000003.12:g.55474441T>C	ExAC,gnomAD
WNT5A	P41221	p.Ala199Pro	rs181787192	missense variant	-	NC_000003.12:g.55474426C>G	1000Genomes,TOPMed,gnomAD
WNT5A	P41221	p.Ala199Thr	rs181787192	missense variant	-	NC_000003.12:g.55474426C>T	1000Genomes,TOPMed,gnomAD
WNT5A	P41221	p.Arg200His	rs750057475	missense variant	-	NC_000003.12:g.55474422C>T	ExAC,gnomAD
WNT5A	P41221	p.Arg200Leu	rs750057475	missense variant	-	NC_000003.12:g.55474422C>A	ExAC,gnomAD
WNT5A	P41221	p.Arg200Gly	rs988058834	missense variant	-	NC_000003.12:g.55474423G>C	TOPMed
WNT5A	P41221	p.Glu203Gln	rs1414414180	missense variant	-	NC_000003.12:g.55474414C>G	gnomAD
WNT5A	P41221	p.Arg204His	rs866738848	missense variant	-	NC_000003.12:g.55474410C>T	gnomAD
WNT5A	P41221	p.Ile205Thr	rs753171819	missense variant	-	NC_000003.12:g.55474407A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala207Ser	rs760160092	missense variant	-	NC_000003.12:g.55474402C>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Lys208Glu	rs777155530	missense variant	-	NC_000003.12:g.55474399T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Glu212Lys	rs766388444	missense variant	-	NC_000003.12:g.55474387C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Glu212Gly	rs1484487400	missense variant	-	NC_000003.12:g.55474386T>C	gnomAD
WNT5A	P41221	p.Glu212Asp	rs760747132	missense variant	-	NC_000003.12:g.55474385C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala214Thr	rs1293009430	missense variant	-	NC_000003.12:g.55474381C>T	TOPMed
WNT5A	P41221	p.Ala214Gly	rs773308486	missense variant	-	NC_000003.12:g.55474380G>C	ExAC,gnomAD
WNT5A	P41221	p.Arg215His	rs1272969340	missense variant	-	NC_000003.12:g.55474377C>T	gnomAD
WNT5A	P41221	p.Ile216Met	rs1213352508	missense variant	-	NC_000003.12:g.55474373G>C	gnomAD
WNT5A	P41221	p.Leu217Phe	rs1341494143	missense variant	-	NC_000003.12:g.55474372G>A	gnomAD
WNT5A	P41221	p.Met218Ile	rs963662325	missense variant	-	NC_000003.12:g.55474367C>G	TOPMed
WNT5A	P41221	p.Met218Val	rs1232898551	missense variant	-	NC_000003.12:g.55474369T>C	gnomAD
WNT5A	P41221	p.Asn222Ser	rs1448534007	missense variant	-	NC_000003.12:g.55474356T>C	gnomAD
WNT5A	P41221	p.Asn223Lys	rs762002827	missense variant	-	NC_000003.12:g.55474352G>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Thr229Ala	RCV000385244	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55470550T>C	ClinVar
WNT5A	P41221	p.Thr229Ala	rs886058744	missense variant	-	NC_000003.12:g.55470550T>C	gnomAD
WNT5A	P41221	p.Thr229Met	rs769829279	missense variant	-	NC_000003.12:g.55470549G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Tyr231His	rs770524527	missense variant	-	NC_000003.12:g.55470544A>G	ExAC,gnomAD
WNT5A	P41221	p.Tyr231Cys	rs376640377	missense variant	-	NC_000003.12:g.55470543T>C	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asn232Ser	rs777506252	missense variant	-	NC_000003.12:g.55470540T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala234Gly	rs755298105	missense variant	-	NC_000003.12:g.55470534G>C	ExAC,gnomAD
WNT5A	P41221	p.Lys239Arg	rs1302532308	missense variant	-	NC_000003.12:g.55470519T>C	gnomAD
WNT5A	P41221	p.His241Arg	rs181181287	missense variant	-	NC_000003.12:g.55470513T>C	1000Genomes
WNT5A	P41221	p.Ser248Gly	rs780265576	missense variant	-	NC_000003.12:g.55470493T>C	ExAC,gnomAD
WNT5A	P41221	p.Gln255Glu	rs761827056	missense variant	-	NC_000003.12:g.55470472G>C	ExAC,gnomAD
WNT5A	P41221	p.Phe259Leu	rs1269552696	missense variant	-	NC_000003.12:g.55470460A>G	gnomAD
WNT5A	P41221	p.Arg260Cys	rs201567461	missense variant	-	NC_000003.12:g.55470457G>A	ExAC,gnomAD
WNT5A	P41221	p.Arg260Leu	rs1485651707	missense variant	-	NC_000003.12:g.55470456C>A	gnomAD
WNT5A	P41221	p.Arg260Leu	RCV000733943	missense variant	-	NC_000003.12:g.55470456C>A	ClinVar
WNT5A	P41221	p.Ala265Val	rs373379669	missense variant	-	NC_000003.12:g.55470441G>A	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala265Thr	rs1354084512	missense variant	-	NC_000003.12:g.55470442C>T	gnomAD
WNT5A	P41221	p.Glu268Gln	rs1350037873	missense variant	-	NC_000003.12:g.55470433C>G	gnomAD
WNT5A	P41221	p.Asp271Asn	rs1359294973	missense variant	-	NC_000003.12:g.55470424C>T	gnomAD
WNT5A	P41221	p.Asp271Gly	rs770577961	missense variant	-	NC_000003.12:g.55470423T>C	ExAC,gnomAD
WNT5A	P41221	p.Ser272Arg	rs377043203	missense variant	-	NC_000003.12:g.55470419G>T	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ala273Val	rs771812000	missense variant	-	NC_000003.12:g.55470417G>A	ExAC,gnomAD
WNT5A	P41221	p.Ala275Thr	rs546706293	missense variant	-	NC_000003.12:g.55470412C>T	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Ala275Val	rs746392030	missense variant	-	NC_000003.12:g.55470411G>A	ExAC,gnomAD
WNT5A	P41221	p.Met276Leu	rs1182422577	missense variant	-	NC_000003.12:g.55470409T>A	gnomAD
WNT5A	P41221	p.Arg277Trp	rs866667950	missense variant	-	NC_000003.12:g.55470406G>A	gnomAD
WNT5A	P41221	p.Arg277Gln	rs369954366	missense variant	-	NC_000003.12:g.55470405C>T	ESP,TOPMed
WNT5A	P41221	p.Asn279Ser	rs1488780337	missense variant	-	NC_000003.12:g.55470399T>C	gnomAD
WNT5A	P41221	p.Ser280Asn	RCV000381699	missense variant	-	NC_000003.12:g.55470396C>T	ClinVar
WNT5A	P41221	p.Ser280Asn	rs886042717	missense variant	-	NC_000003.12:g.55470396C>T	-
WNT5A	P41221	p.Arg281Gln	rs751696945	missense variant	-	NC_000003.12:g.55470393C>T	ExAC,gnomAD
WNT5A	P41221	p.Arg281Trp	rs533153165	missense variant	-	NC_000003.12:g.55470394G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gly282Val	rs1484178482	missense variant	-	NC_000003.12:g.55470390C>A	TOPMed,gnomAD
WNT5A	P41221	p.Lys283Arg	rs1256476123	missense variant	-	NC_000003.12:g.55470387T>C	gnomAD
WNT5A	P41221	p.Leu284Val	rs375403509	missense variant	-	NC_000003.12:g.55470385A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Val285Ile	rs1305199053	missense variant	-	NC_000003.12:g.55470382C>T	gnomAD
WNT5A	P41221	p.Gln286Arg	rs758690185	missense variant	-	NC_000003.12:g.55470378T>C	ExAC
WNT5A	P41221	p.Val287Leu	rs1297105774	missense variant	-	NC_000003.12:g.55470376C>G	gnomAD
WNT5A	P41221	p.Ser289Asn	rs1354491206	missense variant	-	NC_000003.12:g.55470369C>T	gnomAD
WNT5A	P41221	p.Arg290His	rs765101926	missense variant	-	NC_000003.12:g.55470366C>T	ExAC,gnomAD
WNT5A	P41221	p.Arg290Leu	rs765101926	missense variant	-	NC_000003.12:g.55470366C>A	ExAC,gnomAD
WNT5A	P41221	p.Asn292His	rs1413364471	missense variant	-	NC_000003.12:g.55470361T>G	gnomAD
WNT5A	P41221	p.Asn292Ser	rs1404834929	missense variant	-	NC_000003.12:g.55470360T>C	gnomAD
WNT5A	P41221	p.Ser293Leu	rs759194223	missense variant	-	NC_000003.12:g.55470357G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Thr295Ile	rs1277424205	missense variant	-	NC_000003.12:g.55470351G>A	TOPMed
WNT5A	P41221	p.Thr296Ile	rs760675240	missense variant	-	NC_000003.12:g.55470348G>A	ExAC,gnomAD
WNT5A	P41221	p.Gln297Glu	rs772896188	missense variant	-	NC_000003.12:g.55470346G>C	ExAC,gnomAD
WNT5A	P41221	p.Gln297Ter	rs772896188	stop gained	-	NC_000003.12:g.55470346G>A	ExAC,gnomAD
WNT5A	P41221	p.Asp298Asn	rs771445451	missense variant	-	NC_000003.12:g.55470343C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Val300Phe	rs747860258	missense variant	-	NC_000003.12:g.55470337C>A	ExAC
WNT5A	P41221	p.Tyr301Phe	rs773819361	missense variant	-	NC_000003.12:g.55470333T>A	ExAC,gnomAD
WNT5A	P41221	p.Ile302Val	rs770199302	missense variant	-	NC_000003.12:g.55470331T>C	ExAC,gnomAD
WNT5A	P41221	p.Asp303Asn	rs781527130	missense variant	-	NC_000003.12:g.55470328C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Asp303His	rs781527130	missense variant	-	NC_000003.12:g.55470328C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Pro304His	rs757813200	missense variant	-	NC_000003.12:g.55470324G>T	ExAC,gnomAD
WNT5A	P41221	p.Pro304Leu	rs757813200	missense variant	-	NC_000003.12:g.55470324G>A	ExAC,gnomAD
WNT5A	P41221	p.Cys309Gly	rs747485846	missense variant	-	NC_000003.12:g.55470310A>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Cys309Arg	rs747485846	missense variant	-	NC_000003.12:g.55470310A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Val310Ala	rs758357805	missense variant	-	NC_000003.12:g.55470306A>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Val310Leu	rs777938109	missense variant	-	NC_000003.12:g.55470307C>G	ExAC,gnomAD
WNT5A	P41221	p.Arg311Leu	rs752974227	missense variant	-	NC_000003.12:g.55470303C>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Arg311Pro	rs752974227	missense variant	-	NC_000003.12:g.55470303C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Arg311Cys	rs1189964563	missense variant	-	NC_000003.12:g.55470304G>A	TOPMed
WNT5A	P41221	p.Asn312Ser	rs1469870275	missense variant	-	NC_000003.12:g.55470300T>C	TOPMed
WNT5A	P41221	p.Glu313Lys	rs369701725	missense variant	-	NC_000003.12:g.55470298C>T	ESP,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Thr315Asn	rs931674113	missense variant	-	NC_000003.12:g.55470291G>T	TOPMed
WNT5A	P41221	p.Ser317Leu	rs755247138	missense variant	-	NC_000003.12:g.55470285G>A	ExAC,gnomAD
WNT5A	P41221	p.Thr320Met	rs922958622	missense variant	-	NC_000003.12:g.55470276G>A	TOPMed
WNT5A	P41221	p.Gln321Arg	rs946840827	missense variant	-	NC_000003.12:g.55470273T>C	TOPMed,gnomAD
WNT5A	P41221	p.Asn326Ser	rs1368827765	missense variant	-	NC_000003.12:g.55470258T>C	TOPMed,gnomAD
WNT5A	P41221	p.Asn326Asp	rs373282952	missense variant	-	NC_000003.12:g.55470259T>C	ESP,ExAC,gnomAD
WNT5A	P41221	p.Lys327Arg	rs750281702	missense variant	-	NC_000003.12:g.55470255T>C	ExAC,gnomAD
WNT5A	P41221	p.Thr328Met	RCV000289666	missense variant	Robinow syndrome (DRS1)	NC_000003.12:g.55470252G>A	ClinVar
WNT5A	P41221	p.Thr328Ala	rs767068436	missense variant	-	NC_000003.12:g.55470253T>C	ExAC,gnomAD
WNT5A	P41221	p.Thr328Met	rs201975128	missense variant	-	NC_000003.12:g.55470252G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Ser329Leu	rs375700896	missense variant	-	NC_000003.12:g.55470249G>A	ESP,ExAC,gnomAD
WNT5A	P41221	p.Ser329Thr	rs1263066189	missense variant	-	NC_000003.12:g.55470250A>T	TOPMed
WNT5A	P41221	p.Met332Val	rs768254997	missense variant	-	NC_000003.12:g.55470241T>C	ExAC,gnomAD
WNT5A	P41221	p.Met332Leu	rs768254997	missense variant	-	NC_000003.12:g.55470241T>G	ExAC,gnomAD
WNT5A	P41221	p.Gly334Cys	rs1356686397	missense variant	-	NC_000003.12:g.55470235C>A	gnomAD
WNT5A	P41221	p.Glu336Lys	rs542775163	missense variant	-	NC_000003.12:g.55470229C>T	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Glu336Gly	rs771248572	missense variant	-	NC_000003.12:g.55470228T>C	ExAC,gnomAD
WNT5A	P41221	p.Gly341Ser	rs1370251695	missense variant	-	NC_000003.12:g.55470214C>T	gnomAD
WNT5A	P41221	p.Arg342Gly	rs747534689	missense variant	-	NC_000003.12:g.55470211G>C	ExAC,gnomAD
WNT5A	P41221	p.Asp345His	rs1407280678	missense variant	-	NC_000003.12:g.55470202C>G	TOPMed,gnomAD
WNT5A	P41221	p.Gln346Lys	rs573691468	missense variant	-	NC_000003.12:g.55470199G>T	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Phe347Leu	rs1182836998	missense variant	-	NC_000003.12:g.55470194G>T	TOPMed
WNT5A	P41221	p.Val350Met	rs779036055	missense variant	-	NC_000003.12:g.55470187C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gln351Arg	rs1057524412	missense variant	-	NC_000003.12:g.55470183T>C	gnomAD
WNT5A	P41221	p.Gln351Leu	RCV000434129	missense variant	-	NC_000003.12:g.55470183T>A	ClinVar
WNT5A	P41221	p.Gln351Leu	rs1057524412	missense variant	-	NC_000003.12:g.55470183T>A	gnomAD
WNT5A	P41221	p.Thr352Met	rs755298573	missense variant	-	NC_000003.12:g.55470180G>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.His356Tyr	rs1467578208	missense variant	-	NC_000003.12:g.55470169G>A	TOPMed
WNT5A	P41221	p.Lys358Met	rs780019128	missense variant	-	NC_000003.12:g.55470162T>A	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Lys358Arg	rs780019128	missense variant	-	NC_000003.12:g.55470162T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Tyr364Cys	rs1260562227	missense variant	-	NC_000003.12:g.55470144T>C	gnomAD
WNT5A	P41221	p.Val365Ile	rs1410287718	missense variant	-	NC_000003.12:g.55470142C>T	TOPMed
WNT5A	P41221	p.Lys366Gln	rs553825428	missense variant	-	NC_000003.12:g.55470139T>G	1000Genomes,ExAC,gnomAD
WNT5A	P41221	p.Cys370Arg	rs767422181	missense variant	-	NC_000003.12:g.55470127A>G	ExAC,gnomAD
WNT5A	P41221	p.Thr371Ala	rs761800959	missense variant	-	NC_000003.12:g.55470124T>C	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Thr371Met	rs984934479	missense variant	-	NC_000003.12:g.55470123G>A	TOPMed,gnomAD
WNT5A	P41221	p.Glu372Asp	rs762481849	missense variant	-	NC_000003.12:g.55470119C>G	gnomAD
WNT5A	P41221	p.Val374Met	rs1346821075	missense variant	-	NC_000003.12:g.55470115C>T	TOPMed
WNT5A	P41221	p.Asp375Asn	rs763566950	missense variant	-	NC_000003.12:g.55470112C>T	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Gln376Arg	rs1344347590	missense variant	-	NC_000003.12:g.55470108T>C	gnomAD
WNT5A	P41221	p.Gln376His	rs775072555	missense variant	-	NC_000003.12:g.55470107C>G	ExAC,TOPMed,gnomAD
WNT5A	P41221	p.Phe377Leu	rs771295790	missense variant	-	NC_000003.12:g.55470104A>C	ExAC,gnomAD
WNT5A	P41221	p.Lys380Arg	rs1362145507	missense variant	-	NC_000003.12:g.55470096T>C	gnomAD
CASP3	P42574	p.Asn3Lys	rs749601817	missense variant	-	NC_000004.12:g.184638445G>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Thr4Ile	rs1472060631	missense variant	-	NC_000004.12:g.184638443G>A	gnomAD
CASP3	P42574	p.Thr4Pro	rs1459765876	missense variant	-	NC_000004.12:g.184638444T>G	TOPMed
CASP3	P42574	p.Glu5Ter	rs773595817	stop gained	-	NC_000004.12:g.184638441C>A	ExAC
CASP3	P42574	p.Ser7Leu	rs1325011265	missense variant	-	NC_000004.12:g.184638434G>A	TOPMed
CASP3	P42574	p.Val8Met	rs950745993	missense variant	-	NC_000004.12:g.184638432C>T	TOPMed
CASP3	P42574	p.Val8Leu	rs950745993	missense variant	-	NC_000004.12:g.184638432C>G	TOPMed
CASP3	P42574	p.Asp9Glu	rs1194930579	missense variant	-	NC_000004.12:g.184638427A>C	gnomAD
CASP3	P42574	p.Lys11Ile	rs1436898555	missense variant	-	NC_000004.12:g.184638422T>A	TOPMed
CASP3	P42574	p.Ser12Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184638419G>A	NCI-TCGA
CASP3	P42574	p.Ser12Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184638420A>C	NCI-TCGA
CASP3	P42574	p.Ile13Val	rs1489468017	missense variant	-	NC_000004.12:g.184638417T>C	gnomAD
CASP3	P42574	p.Pro18Thr	rs755080452	missense variant	-	NC_000004.12:g.184638402G>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Pro18Ser	rs755080452	missense variant	-	NC_000004.12:g.184638402G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Pro18Leu	rs747108081	missense variant	-	NC_000004.12:g.184638401G>A	ExAC,gnomAD
CASP3	P42574	p.Lys19Arg	rs527460051	missense variant	-	NC_000004.12:g.184635416T>C	1000Genomes
CASP3	P42574	p.Ile20Met	rs770128758	missense variant	-	NC_000004.12:g.184635412G>C	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ile21Leu	rs1293102297	missense variant	-	NC_000004.12:g.184635411T>G	gnomAD
CASP3	P42574	p.His22Arg	rs35578277	missense variant	-	NC_000004.12:g.184635407T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.His22Arg	rs35578277	missense variant	-	NC_000004.12:g.184635407T>C	UniProt,dbSNP
CASP3	P42574	p.His22Arg	VAR_048616	missense variant	-	NC_000004.12:g.184635407T>C	UniProt
CASP3	P42574	p.Glu25Lys	rs776881401	missense variant	-	NC_000004.12:g.184635399C>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Glu25Lys	rs776881401	missense variant	-	NC_000004.12:g.184635399C>T	NCI-TCGA
CASP3	P42574	p.Met27Val	rs201867896	missense variant	-	NC_000004.12:g.184635393T>C	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ser29Phe	rs747072648	missense variant	-	NC_000004.12:g.184635386G>A	ExAC,gnomAD
CASP3	P42574	p.Ser32Pro	rs1281685754	missense variant	-	NC_000004.12:g.184635378A>G	TOPMed
CASP3	P42574	p.Asp34Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184635372C>T	NCI-TCGA
CASP3	P42574	p.Lys38Asn	rs368927854	missense variant	-	NC_000004.12:g.184635358T>G	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Met39Ile	rs1006886327	missense variant	-	NC_000004.12:g.184635355C>A	TOPMed,gnomAD
CASP3	P42574	p.Pro42Leu	rs1170107091	missense variant	-	NC_000004.12:g.184635347G>A	gnomAD
CASP3	P42574	p.Glu43Lys	rs1411451236	missense variant	-	NC_000004.12:g.184635345C>T	gnomAD
CASP3	P42574	p.Met44Arg	rs548379586	missense variant	-	NC_000004.12:g.184635341A>C	1000Genomes,ExAC
CASP3	P42574	p.Cys47Tyr	rs749226798	missense variant	-	NC_000004.12:g.184635332C>T	ExAC,gnomAD
CASP3	P42574	p.Ile48Val	rs139792606	missense variant	-	NC_000004.12:g.184635330T>C	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ile50Leu	rs146079573	missense variant	-	NC_000004.12:g.184635324T>G	ESP,TOPMed
CASP3	P42574	p.Asn51His	rs752593076	missense variant	-	NC_000004.12:g.184635321T>G	ExAC,gnomAD
CASP3	P42574	p.Ser58Asn	rs780844343	missense variant	-	NC_000004.12:g.184635299C>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Thr62Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184632391T>C	NCI-TCGA
CASP3	P42574	p.Arg64Trp	rs769869735	missense variant	-	NC_000004.12:g.184632385G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg64Gln	rs747930965	missense variant	-	NC_000004.12:g.184632384C>T	ExAC,gnomAD
CASP3	P42574	p.Arg64Gln	rs747930965	missense variant	-	NC_000004.12:g.184632384C>T	NCI-TCGA,NCI-TCGA Cosmic
CASP3	P42574	p.Gly66Asp	rs1446038442	missense variant	-	NC_000004.12:g.184632378C>T	TOPMed
CASP3	P42574	p.Asp68Asn	rs958101906	missense variant	-	NC_000004.12:g.184632373C>T	TOPMed,gnomAD
CASP3	P42574	p.Val69Ile	rs754598802	missense variant	-	NC_000004.12:g.184632370C>T	ExAC,gnomAD
CASP3	P42574	p.Val69Ala	rs1354854000	missense variant	-	NC_000004.12:g.184632369A>G	gnomAD
CASP3	P42574	p.Asp70Asn	rs1333458950	missense variant	-	NC_000004.12:g.184632367C>T	gnomAD
CASP3	P42574	p.Ala71Val	rs1306969965	missense variant	-	NC_000004.12:g.184632363G>A	gnomAD
CASP3	P42574	p.Leu74Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184632355G>T	NCI-TCGA
CASP3	P42574	p.Glu76Gln	rs751157550	missense variant	-	NC_000004.12:g.184632349C>G	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Phe78Leu	rs537053227	missense variant	-	NC_000004.12:g.184632341G>T	1000Genomes,ExAC,gnomAD
CASP3	P42574	p.Arg79Ser	rs757872342	missense variant	-	NC_000004.12:g.184632338T>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Asn80Ser	rs199988965	missense variant	-	NC_000004.12:g.184632336T>C	1000Genomes,gnomAD
CASP3	P42574	p.Asn80Asp	rs201901370	missense variant	-	NC_000004.12:g.184632337T>C	1000Genomes
CASP3	P42574	p.Tyr83Cys	rs749985298	missense variant	-	NC_000004.12:g.184632327T>C	ExAC,gnomAD
CASP3	P42574	p.Val85Ala	rs988311277	missense variant	-	NC_000004.12:g.184632321A>G	TOPMed
CASP3	P42574	p.Val85Ile	rs1363258170	missense variant	-	NC_000004.12:g.184632322C>T	gnomAD
CASP3	P42574	p.Arg86Gly	rs1181026854	missense variant	-	NC_000004.12:g.184632319T>C	gnomAD
CASP3	P42574	p.Asp90His	rs1424266770	missense variant	-	NC_000004.12:g.184632307C>G	gnomAD
CASP3	P42574	p.Asp90Tyr	COSM279582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.184632307C>A	NCI-TCGA Cosmic
CASP3	P42574	p.Leu91Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184632304G>A	NCI-TCGA
CASP3	P42574	p.Arg93Cys	rs1258017334	missense variant	-	NC_000004.12:g.184632298G>A	TOPMed,gnomAD
CASP3	P42574	p.Arg93Leu	rs1185617085	missense variant	-	NC_000004.12:g.184632297C>A	TOPMed,gnomAD
CASP3	P42574	p.Arg93His	rs1185617085	missense variant	-	NC_000004.12:g.184632297C>T	TOPMed,gnomAD
CASP3	P42574	p.Glu95Gly	rs1286350834	missense variant	-	NC_000004.12:g.184632291T>C	gnomAD
CASP3	P42574	p.Met100Val	rs139516222	missense variant	-	NC_000004.12:g.184632277T>C	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg101Cys	rs567223280	missense variant	-	NC_000004.12:g.184632274G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg101His	rs146285839	missense variant	-	NC_000004.12:g.184632273C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg101Cys	rs567223280	missense variant	-	NC_000004.12:g.184632274G>A	NCI-TCGA,NCI-TCGA Cosmic
CASP3	P42574	p.Arg101Gly	rs567223280	missense variant	-	NC_000004.12:g.184632274G>C	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Lys105Glu	rs1280426773	missense variant	-	NC_000004.12:g.184631935T>C	gnomAD
CASP3	P42574	p.Glu106Gln	rs776636041	missense variant	-	NC_000004.12:g.184631932C>G	gnomAD
CASP3	P42574	p.Glu106Lys	rs776636041	missense variant	-	NC_000004.12:g.184631932C>T	gnomAD
CASP3	P42574	p.Asp107His	rs1326139353	missense variant	-	NC_000004.12:g.184631929C>G	gnomAD
CASP3	P42574	p.Asp107Gly	rs1289153828	missense variant	-	NC_000004.12:g.184631928T>C	TOPMed
CASP3	P42574	p.His108Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184631926G>T	NCI-TCGA
CASP3	P42574	p.Arg111Met	rs1487994914	missense variant	-	NC_000004.12:g.184631916C>A	TOPMed
CASP3	P42574	p.Arg111Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184631916C>T	NCI-TCGA
CASP3	P42574	p.Ser112Asn	rs758078619	missense variant	-	NC_000004.12:g.184631913C>T	ExAC,gnomAD
CASP3	P42574	p.Ser112Asn	rs758078619	missense variant	-	NC_000004.12:g.184631913C>T	NCI-TCGA
CASP3	P42574	p.Phe114Tyr	rs1205494037	missense variant	-	NC_000004.12:g.184631907A>T	TOPMed
CASP3	P42574	p.Phe114Val	COSM1053703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.184631908A>C	NCI-TCGA Cosmic
CASP3	P42574	p.Val115Ile	rs371766825	missense variant	-	NC_000004.12:g.184631905C>T	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Val115Phe	COSM6166914	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.184631905C>A	NCI-TCGA Cosmic
CASP3	P42574	p.Cys116Arg	rs778409347	missense variant	-	NC_000004.12:g.184631902A>G	ExAC
CASP3	P42574	p.Cys116Trp	rs367650105	missense variant	-	NC_000004.12:g.184631900A>C	ESP,TOPMed,gnomAD
CASP3	P42574	p.Cys116Tyr	COSM4123698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.184631901C>T	NCI-TCGA Cosmic
CASP3	P42574	p.Val117Gly	rs78678473	missense variant	-	NC_000004.12:g.184631898A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Val117Ala	rs78678473	missense variant	-	NC_000004.12:g.184631898A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Leu118Phe	rs754299277	missense variant	-	NC_000004.12:g.184631896G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Leu118Ile	rs754299277	missense variant	-	NC_000004.12:g.184631896G>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Glu124Val	rs1169496054	missense variant	-	NC_000004.12:g.184631877T>A	gnomAD
CASP3	P42574	p.Ile127Leu	rs753131848	missense variant	-	NC_000004.12:g.184631869T>G	ExAC,gnomAD
CASP3	P42574	p.Pro133Ser	rs200935460	missense variant	-	NC_000004.12:g.184631851G>A	1000Genomes
CASP3	P42574	p.Leu136Pro	rs763157710	missense variant	-	NC_000004.12:g.184631841A>G	ExAC,gnomAD
CASP3	P42574	p.Lys137Glu	rs776400130	missense variant	-	NC_000004.12:g.184631839T>C	ExAC,gnomAD
CASP3	P42574	p.Ile139Leu	rs1194497709	missense variant	-	NC_000004.12:g.184631833T>A	gnomAD
CASP3	P42574	p.Ile139Val	rs1194497709	missense variant	-	NC_000004.12:g.184631833T>C	gnomAD
CASP3	P42574	p.Ile139Ter	COSM3130250	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.184631833T>-	NCI-TCGA Cosmic
CASP3	P42574	p.Ile139AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.184631832_184631833insT	NCI-TCGA
CASP3	P42574	p.Asn141Asp	rs768687549	missense variant	-	NC_000004.12:g.184631827T>C	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Phe143Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184631820A>G	NCI-TCGA
CASP3	P42574	p.Gly145Glu	rs1368903886	missense variant	-	NC_000004.12:g.184631814C>T	gnomAD
CASP3	P42574	p.Arg147His	rs577739464	missense variant	-	NC_000004.12:g.184631808C>T	1000Genomes,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg147Cys	rs1457645538	missense variant	-	NC_000004.12:g.184631809G>A	TOPMed
CASP3	P42574	p.Cys148Arg	rs1380983370	missense variant	-	NC_000004.12:g.184631806A>G	TOPMed
CASP3	P42574	p.Leu151Val	rs771653561	missense variant	-	NC_000004.12:g.184631797G>C	ExAC,gnomAD
CASP3	P42574	p.Thr152Ser	rs745505513	missense variant	-	NC_000004.12:g.184631793G>C	ExAC,gnomAD
CASP3	P42574	p.Gly153Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184631790C>T	NCI-TCGA
CASP3	P42574	p.Lys156Arg	rs778601566	missense variant	-	NC_000004.12:g.184631781T>C	ExAC,gnomAD
CASP3	P42574	p.Phe158Leu	rs1026750296	missense variant	-	NC_000004.12:g.184631776A>G	TOPMed,gnomAD
CASP3	P42574	p.Gln161Leu	COSM6099806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.184631766T>A	NCI-TCGA Cosmic
CASP3	P42574	p.Gln161Ter	COSM6099805	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.184631767G>A	NCI-TCGA Cosmic
CASP3	P42574	p.Ala162Gly	rs748702509	missense variant	-	NC_000004.12:g.184631156G>C	ExAC,gnomAD
CASP3	P42574	p.Cys163Trp	rs777345631	missense variant	-	NC_000004.12:g.184631152G>C	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg164Cys	rs770145611	missense variant	-	NC_000004.12:g.184631151G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg164His	rs1217567390	missense variant	-	NC_000004.12:g.184631150C>T	gnomAD
CASP3	P42574	p.Gly165Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184631147C>T	NCI-TCGA
CASP3	P42574	p.Asp169Gly	rs748655755	missense variant	-	NC_000004.12:g.184631135T>C	ExAC,gnomAD
CASP3	P42574	p.Cys170Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184631133A>G	NCI-TCGA
CASP3	P42574	p.Gly171Asp	rs781782069	missense variant	-	NC_000004.12:g.184631129C>T	ExAC,gnomAD
CASP3	P42574	p.Ile172Val	rs578008889	missense variant	-	NC_000004.12:g.184631127T>C	1000Genomes,ExAC,gnomAD
CASP3	P42574	p.Ile172Thr	rs1284696202	missense variant	-	NC_000004.12:g.184631126A>G	gnomAD
CASP3	P42574	p.Glu173Gln	COSM4847792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.184631124C>G	NCI-TCGA Cosmic
CASP3	P42574	p.Thr174Arg	rs1416442983	missense variant	-	NC_000004.12:g.184631120G>C	gnomAD
CASP3	P42574	p.Ser176Gly	rs1353298938	missense variant	-	NC_000004.12:g.184631115T>C	gnomAD
CASP3	P42574	p.Asp179Val	rs1400180838	missense variant	-	NC_000004.12:g.184631105T>A	gnomAD
CASP3	P42574	p.Asp180His	COSM1309927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.184631103C>G	NCI-TCGA Cosmic
CASP3	P42574	p.Met182Val	rs1156238121	missense variant	-	NC_000004.12:g.184631097T>C	gnomAD
CASP3	P42574	p.Met182Ile	rs1320816017	missense variant	-	NC_000004.12:g.184631095C>T	TOPMed
CASP3	P42574	p.Ala183Val	rs80000647	missense variant	-	NC_000004.12:g.184631093G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Cys184Tyr	rs750412530	missense variant	-	NC_000004.12:g.184631090C>T	ExAC,gnomAD
CASP3	P42574	p.His185Asn	rs765345221	missense variant	-	NC_000004.12:g.184631088G>T	ExAC,gnomAD
CASP3	P42574	p.His185Arg	rs1208064959	missense variant	-	NC_000004.12:g.184631087T>C	TOPMed
CASP3	P42574	p.Pro188Gln	rs1246331686	missense variant	-	NC_000004.12:g.184631078G>T	gnomAD
CASP3	P42574	p.Pro188Thr	rs1247443028	missense variant	-	NC_000004.12:g.184631079G>T	TOPMed
CASP3	P42574	p.Val189Met	rs1417526600	missense variant	-	NC_000004.12:g.184631076C>T	gnomAD
CASP3	P42574	p.Glu190Asp	rs1049210	missense variant	-	NC_000004.12:g.184631071C>G	TOPMed
CASP3	P42574	p.Glu190Asp	rs1049210	missense variant	-	NC_000004.12:g.184631071C>A	TOPMed
CASP3	P42574	p.Glu190Gly	rs761945673	missense variant	-	NC_000004.12:g.184631072T>C	ExAC,gnomAD
CASP3	P42574	p.Ala191Val	rs752598551	missense variant	-	NC_000004.12:g.184631069G>A	ExAC,gnomAD
CASP3	P42574	p.Asp192Asn	rs543443896	missense variant	-	NC_000004.12:g.184631067C>T	-
CASP3	P42574	p.Asp192Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184631065G>T	NCI-TCGA
CASP3	P42574	p.Leu194Phe	rs759274147	missense variant	-	NC_000004.12:g.184631059C>G	ExAC,gnomAD
CASP3	P42574	p.Thr199Ile	rs143138537	missense variant	-	NC_000004.12:g.184631045G>A	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Gly202Asp	rs1467034287	missense variant	-	NC_000004.12:g.184629501C>T	gnomAD
CASP3	P42574	p.Arg207Gln	rs149499063	missense variant	-	NC_000004.12:g.184629486C>T	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg207Ter	rs757302190	stop gained	-	NC_000004.12:g.184629487G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Asp211Asn	rs1309003064	missense variant	-	NC_000004.12:g.184629475C>T	gnomAD
CASP3	P42574	p.Gln217His	rs754910045	missense variant	-	NC_000004.12:g.184629455C>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ser218Leu	rs371145290	missense variant	-	NC_000004.12:g.184629453G>A	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Met222Thr	rs1209850813	missense variant	-	NC_000004.12:g.184629441A>G	TOPMed
CASP3	P42574	p.Met222Val	rs1438069348	missense variant	-	NC_000004.12:g.184629442T>C	gnomAD
CASP3	P42574	p.Gln225Arg	rs762726706	missense variant	-	NC_000004.12:g.184629432T>C	ExAC,gnomAD
CASP3	P42574	p.Gln225Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184629432T>G	NCI-TCGA
CASP3	P42574	p.Tyr226His	rs137982553	missense variant	-	NC_000004.12:g.184629430A>G	ESP,TOPMed,gnomAD
CASP3	P42574	p.Tyr226MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.184629430A>-	NCI-TCGA
CASP3	P42574	p.Ala227Val	rs772892566	missense variant	-	NC_000004.12:g.184629426G>A	ExAC
CASP3	P42574	p.Asp228Glu	rs1021939847	missense variant	-	NC_000004.12:g.184629422G>C	TOPMed
CASP3	P42574	p.Asp228Asn	rs146955836	missense variant	-	NC_000004.12:g.184629424C>T	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Glu231Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184629415C>G	NCI-TCGA
CASP3	P42574	p.Met233Thr	rs1415201058	missense variant	-	NC_000004.12:g.184629408A>G	gnomAD
CASP3	P42574	p.Met233Val	rs1170037815	missense variant	-	NC_000004.12:g.184629409T>C	gnomAD
CASP3	P42574	p.Met233Ile	rs776313562	missense variant	-	NC_000004.12:g.184629407C>T	ExAC,gnomAD
CASP3	P42574	p.His234Gln	rs964440992	missense variant	-	NC_000004.12:g.184629404G>T	TOPMed,gnomAD
CASP3	P42574	p.Thr237Asn	rs1036029017	missense variant	-	NC_000004.12:g.184629396G>T	TOPMed
CASP3	P42574	p.Arg238Trp	rs917537082	missense variant	-	NC_000004.12:g.184629394G>A	TOPMed,gnomAD
CASP3	P42574	p.Arg238Gln	rs747505178	missense variant	-	NC_000004.12:g.184629393C>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Val239Ile	rs1429740601	missense variant	-	NC_000004.12:g.184629391C>T	TOPMed,gnomAD
CASP3	P42574	p.Arg241Leu	rs746265920	missense variant	-	NC_000004.12:g.184629384C>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg241Ter	rs370247095	stop gained	-	NC_000004.12:g.184629385G>A	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg241Gln	rs746265920	missense variant	-	NC_000004.12:g.184629384C>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ala244Val	rs757499609	missense variant	-	NC_000004.12:g.184629375G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ala244Thr	COSM1319356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.184629376C>T	NCI-TCGA Cosmic
CASP3	P42574	p.Glu246Lys	rs749295788	missense variant	-	NC_000004.12:g.184629370C>T	ExAC,gnomAD
CASP3	P42574	p.Ser249Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184629360G>A	NCI-TCGA
CASP3	P42574	p.Phe250Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184629358A>G	NCI-TCGA
CASP3	P42574	p.Ala254Thr	rs1393598499	missense variant	-	NC_000004.12:g.184629346C>T	TOPMed,gnomAD
CASP3	P42574	p.Thr255Pro	rs751514857	missense variant	-	NC_000004.12:g.184629343T>G	ExAC,gnomAD
CASP3	P42574	p.Phe256Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.184629338A>C	NCI-TCGA
CASP3	P42574	p.Lys259HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.184629307_184629338AAACAATACATGGAATCTGTTTCTTTGCATGA>-	NCI-TCGA
CASP3	P42574	p.Ile262Val	rs761562836	missense variant	-	NC_000004.12:g.184629322T>C	ExAC,gnomAD
CASP3	P42574	p.Ile262Phe	rs761562836	missense variant	-	NC_000004.12:g.184629322T>A	ExAC,gnomAD
CASP3	P42574	p.Cys264Ser	rs1380940766	missense variant	-	NC_000004.12:g.184629316A>T	gnomAD
CASP3	P42574	p.Met268Ile	rs372434595	missense variant	-	NC_000004.12:g.184629302C>T	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Glu272Asp	rs1012893902	missense variant	-	NC_000004.12:g.184629290T>G	TOPMed
CASP3	P42574	p.Glu272Ter	rs1037653105	stop gained	-	NC_000004.12:g.184629292C>A	TOPMed
CASP3	P42574	p.Tyr274Ter	rs760142031	stop gained	-	NC_000004.12:g.184629284A>C	ExAC,gnomAD
CASP3	P42574	p.Tyr276His	rs369841492	missense variant	-	NC_000004.12:g.184629280A>G	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.His277Tyr	rs147767351	missense variant	-	NC_000004.12:g.184629277G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.His277Gln	COSM6166915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.184629275G>C	NCI-TCGA Cosmic
CASP3	P42574	p.Asn3Lys	rs749601817	missense variant	-	NC_000004.12:g.184638445G>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Thr4Ile	rs1472060631	missense variant	-	NC_000004.12:g.184638443G>A	gnomAD
CASP3	P42574	p.Thr4Pro	rs1459765876	missense variant	-	NC_000004.12:g.184638444T>G	TOPMed
CASP3	P42574	p.Glu5Ter	rs773595817	stop gained	-	NC_000004.12:g.184638441C>A	ExAC
CASP3	P42574	p.Ser7Leu	rs1325011265	missense variant	-	NC_000004.12:g.184638434G>A	TOPMed
CASP3	P42574	p.Val8Met	rs950745993	missense variant	-	NC_000004.12:g.184638432C>T	TOPMed
CASP3	P42574	p.Val8Leu	rs950745993	missense variant	-	NC_000004.12:g.184638432C>G	TOPMed
CASP3	P42574	p.Asp9Glu	rs1194930579	missense variant	-	NC_000004.12:g.184638427A>C	gnomAD
CASP3	P42574	p.Lys11Ile	rs1436898555	missense variant	-	NC_000004.12:g.184638422T>A	TOPMed
CASP3	P42574	p.Ile13Val	rs1489468017	missense variant	-	NC_000004.12:g.184638417T>C	gnomAD
CASP3	P42574	p.Pro18Leu	rs747108081	missense variant	-	NC_000004.12:g.184638401G>A	ExAC,gnomAD
CASP3	P42574	p.Pro18Ser	rs755080452	missense variant	-	NC_000004.12:g.184638402G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Pro18Thr	rs755080452	missense variant	-	NC_000004.12:g.184638402G>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Lys19Arg	rs527460051	missense variant	-	NC_000004.12:g.184635416T>C	1000Genomes
CASP3	P42574	p.Ile20Met	rs770128758	missense variant	-	NC_000004.12:g.184635412G>C	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ile21Leu	rs1293102297	missense variant	-	NC_000004.12:g.184635411T>G	gnomAD
CASP3	P42574	p.His22Arg	rs35578277	missense variant	-	NC_000004.12:g.184635407T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.His22Arg	rs35578277	missense variant	-	NC_000004.12:g.184635407T>C	UniProt,dbSNP
CASP3	P42574	p.His22Arg	VAR_048616	missense variant	-	NC_000004.12:g.184635407T>C	UniProt
CASP3	P42574	p.Glu25Lys	rs776881401	missense variant	-	NC_000004.12:g.184635399C>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Met27Val	rs201867896	missense variant	-	NC_000004.12:g.184635393T>C	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ser29Phe	rs747072648	missense variant	-	NC_000004.12:g.184635386G>A	ExAC,gnomAD
CASP3	P42574	p.Ser32Pro	rs1281685754	missense variant	-	NC_000004.12:g.184635378A>G	TOPMed
CASP3	P42574	p.Lys38Asn	rs368927854	missense variant	-	NC_000004.12:g.184635358T>G	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Met39Ile	rs1006886327	missense variant	-	NC_000004.12:g.184635355C>A	TOPMed,gnomAD
CASP3	P42574	p.Pro42Leu	rs1170107091	missense variant	-	NC_000004.12:g.184635347G>A	gnomAD
CASP3	P42574	p.Glu43Lys	rs1411451236	missense variant	-	NC_000004.12:g.184635345C>T	gnomAD
CASP3	P42574	p.Met44Arg	rs548379586	missense variant	-	NC_000004.12:g.184635341A>C	1000Genomes,ExAC
CASP3	P42574	p.Cys47Tyr	rs749226798	missense variant	-	NC_000004.12:g.184635332C>T	ExAC,gnomAD
CASP3	P42574	p.Ile48Val	rs139792606	missense variant	-	NC_000004.12:g.184635330T>C	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ile50Leu	rs146079573	missense variant	-	NC_000004.12:g.184635324T>G	ESP,TOPMed
CASP3	P42574	p.Asn51His	rs752593076	missense variant	-	NC_000004.12:g.184635321T>G	ExAC,gnomAD
CASP3	P42574	p.Ser58Asn	rs780844343	missense variant	-	NC_000004.12:g.184635299C>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg64Gln	rs747930965	missense variant	-	NC_000004.12:g.184632384C>T	ExAC,gnomAD
CASP3	P42574	p.Arg64Trp	rs769869735	missense variant	-	NC_000004.12:g.184632385G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Gly66Asp	rs1446038442	missense variant	-	NC_000004.12:g.184632378C>T	TOPMed
CASP3	P42574	p.Asp68Asn	rs958101906	missense variant	-	NC_000004.12:g.184632373C>T	TOPMed,gnomAD
CASP3	P42574	p.Val69Ile	rs754598802	missense variant	-	NC_000004.12:g.184632370C>T	ExAC,gnomAD
CASP3	P42574	p.Val69Ala	rs1354854000	missense variant	-	NC_000004.12:g.184632369A>G	gnomAD
CASP3	P42574	p.Asp70Asn	rs1333458950	missense variant	-	NC_000004.12:g.184632367C>T	gnomAD
CASP3	P42574	p.Ala71Val	rs1306969965	missense variant	-	NC_000004.12:g.184632363G>A	gnomAD
CASP3	P42574	p.Glu76Gln	rs751157550	missense variant	-	NC_000004.12:g.184632349C>G	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Phe78Leu	rs537053227	missense variant	-	NC_000004.12:g.184632341G>T	1000Genomes,ExAC,gnomAD
CASP3	P42574	p.Arg79Ser	rs757872342	missense variant	-	NC_000004.12:g.184632338T>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Asn80Ser	rs199988965	missense variant	-	NC_000004.12:g.184632336T>C	1000Genomes,gnomAD
CASP3	P42574	p.Asn80Asp	rs201901370	missense variant	-	NC_000004.12:g.184632337T>C	1000Genomes
CASP3	P42574	p.Tyr83Cys	rs749985298	missense variant	-	NC_000004.12:g.184632327T>C	ExAC,gnomAD
CASP3	P42574	p.Val85Ile	rs1363258170	missense variant	-	NC_000004.12:g.184632322C>T	gnomAD
CASP3	P42574	p.Val85Ala	rs988311277	missense variant	-	NC_000004.12:g.184632321A>G	TOPMed
CASP3	P42574	p.Arg86Gly	rs1181026854	missense variant	-	NC_000004.12:g.184632319T>C	gnomAD
CASP3	P42574	p.Asp90His	rs1424266770	missense variant	-	NC_000004.12:g.184632307C>G	gnomAD
CASP3	P42574	p.Arg93Leu	rs1185617085	missense variant	-	NC_000004.12:g.184632297C>A	TOPMed,gnomAD
CASP3	P42574	p.Arg93Cys	rs1258017334	missense variant	-	NC_000004.12:g.184632298G>A	TOPMed,gnomAD
CASP3	P42574	p.Arg93His	rs1185617085	missense variant	-	NC_000004.12:g.184632297C>T	TOPMed,gnomAD
CASP3	P42574	p.Glu95Gly	rs1286350834	missense variant	-	NC_000004.12:g.184632291T>C	gnomAD
CASP3	P42574	p.Met100Val	rs139516222	missense variant	-	NC_000004.12:g.184632277T>C	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg101Cys	rs567223280	missense variant	-	NC_000004.12:g.184632274G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg101His	rs146285839	missense variant	-	NC_000004.12:g.184632273C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg101Gly	rs567223280	missense variant	-	NC_000004.12:g.184632274G>C	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Lys105Glu	rs1280426773	missense variant	-	NC_000004.12:g.184631935T>C	gnomAD
CASP3	P42574	p.Glu106Gln	rs776636041	missense variant	-	NC_000004.12:g.184631932C>G	gnomAD
CASP3	P42574	p.Glu106Lys	rs776636041	missense variant	-	NC_000004.12:g.184631932C>T	gnomAD
CASP3	P42574	p.Asp107His	rs1326139353	missense variant	-	NC_000004.12:g.184631929C>G	gnomAD
CASP3	P42574	p.Asp107Gly	rs1289153828	missense variant	-	NC_000004.12:g.184631928T>C	TOPMed
CASP3	P42574	p.Arg111Met	rs1487994914	missense variant	-	NC_000004.12:g.184631916C>A	TOPMed
CASP3	P42574	p.Ser112Asn	rs758078619	missense variant	-	NC_000004.12:g.184631913C>T	ExAC,gnomAD
CASP3	P42574	p.Phe114Tyr	rs1205494037	missense variant	-	NC_000004.12:g.184631907A>T	TOPMed
CASP3	P42574	p.Val115Ile	rs371766825	missense variant	-	NC_000004.12:g.184631905C>T	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Cys116Arg	rs778409347	missense variant	-	NC_000004.12:g.184631902A>G	ExAC
CASP3	P42574	p.Cys116Trp	rs367650105	missense variant	-	NC_000004.12:g.184631900A>C	ESP,TOPMed,gnomAD
CASP3	P42574	p.Val117Ala	rs78678473	missense variant	-	NC_000004.12:g.184631898A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Val117Gly	rs78678473	missense variant	-	NC_000004.12:g.184631898A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Leu118Ile	rs754299277	missense variant	-	NC_000004.12:g.184631896G>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Leu118Phe	rs754299277	missense variant	-	NC_000004.12:g.184631896G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Glu124Val	rs1169496054	missense variant	-	NC_000004.12:g.184631877T>A	gnomAD
CASP3	P42574	p.Ile127Leu	rs753131848	missense variant	-	NC_000004.12:g.184631869T>G	ExAC,gnomAD
CASP3	P42574	p.Pro133Ser	rs200935460	missense variant	-	NC_000004.12:g.184631851G>A	1000Genomes
CASP3	P42574	p.Leu136Pro	rs763157710	missense variant	-	NC_000004.12:g.184631841A>G	ExAC,gnomAD
CASP3	P42574	p.Lys137Glu	rs776400130	missense variant	-	NC_000004.12:g.184631839T>C	ExAC,gnomAD
CASP3	P42574	p.Ile139Leu	rs1194497709	missense variant	-	NC_000004.12:g.184631833T>A	gnomAD
CASP3	P42574	p.Ile139Val	rs1194497709	missense variant	-	NC_000004.12:g.184631833T>C	gnomAD
CASP3	P42574	p.Asn141Asp	rs768687549	missense variant	-	NC_000004.12:g.184631827T>C	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Gly145Glu	rs1368903886	missense variant	-	NC_000004.12:g.184631814C>T	gnomAD
CASP3	P42574	p.Arg147His	rs577739464	missense variant	-	NC_000004.12:g.184631808C>T	1000Genomes,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg147Cys	rs1457645538	missense variant	-	NC_000004.12:g.184631809G>A	TOPMed
CASP3	P42574	p.Cys148Arg	rs1380983370	missense variant	-	NC_000004.12:g.184631806A>G	TOPMed
CASP3	P42574	p.Leu151Val	rs771653561	missense variant	-	NC_000004.12:g.184631797G>C	ExAC,gnomAD
CASP3	P42574	p.Thr152Ser	rs745505513	missense variant	-	NC_000004.12:g.184631793G>C	ExAC,gnomAD
CASP3	P42574	p.Lys156Arg	rs778601566	missense variant	-	NC_000004.12:g.184631781T>C	ExAC,gnomAD
CASP3	P42574	p.Phe158Leu	rs1026750296	missense variant	-	NC_000004.12:g.184631776A>G	TOPMed,gnomAD
CASP3	P42574	p.Ala162Gly	rs748702509	missense variant	-	NC_000004.12:g.184631156G>C	ExAC,gnomAD
CASP3	P42574	p.Cys163Trp	rs777345631	missense variant	-	NC_000004.12:g.184631152G>C	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg164Cys	rs770145611	missense variant	-	NC_000004.12:g.184631151G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg164His	rs1217567390	missense variant	-	NC_000004.12:g.184631150C>T	gnomAD
CASP3	P42574	p.Asp169Gly	rs748655755	missense variant	-	NC_000004.12:g.184631135T>C	ExAC,gnomAD
CASP3	P42574	p.Gly171Asp	rs781782069	missense variant	-	NC_000004.12:g.184631129C>T	ExAC,gnomAD
CASP3	P42574	p.Ile172Thr	rs1284696202	missense variant	-	NC_000004.12:g.184631126A>G	gnomAD
CASP3	P42574	p.Ile172Val	rs578008889	missense variant	-	NC_000004.12:g.184631127T>C	1000Genomes,ExAC,gnomAD
CASP3	P42574	p.Thr174Arg	rs1416442983	missense variant	-	NC_000004.12:g.184631120G>C	gnomAD
CASP3	P42574	p.Ser176Gly	rs1353298938	missense variant	-	NC_000004.12:g.184631115T>C	gnomAD
CASP3	P42574	p.Asp179Val	rs1400180838	missense variant	-	NC_000004.12:g.184631105T>A	gnomAD
CASP3	P42574	p.Met182Val	rs1156238121	missense variant	-	NC_000004.12:g.184631097T>C	gnomAD
CASP3	P42574	p.Met182Ile	rs1320816017	missense variant	-	NC_000004.12:g.184631095C>T	TOPMed
CASP3	P42574	p.Ala183Val	rs80000647	missense variant	-	NC_000004.12:g.184631093G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Cys184Tyr	rs750412530	missense variant	-	NC_000004.12:g.184631090C>T	ExAC,gnomAD
CASP3	P42574	p.His185Asn	rs765345221	missense variant	-	NC_000004.12:g.184631088G>T	ExAC,gnomAD
CASP3	P42574	p.His185Arg	rs1208064959	missense variant	-	NC_000004.12:g.184631087T>C	TOPMed
CASP3	P42574	p.Pro188Gln	rs1246331686	missense variant	-	NC_000004.12:g.184631078G>T	gnomAD
CASP3	P42574	p.Pro188Thr	rs1247443028	missense variant	-	NC_000004.12:g.184631079G>T	TOPMed
CASP3	P42574	p.Val189Met	rs1417526600	missense variant	-	NC_000004.12:g.184631076C>T	gnomAD
CASP3	P42574	p.Glu190Gly	rs761945673	missense variant	-	NC_000004.12:g.184631072T>C	ExAC,gnomAD
CASP3	P42574	p.Glu190Asp	rs1049210	missense variant	-	NC_000004.12:g.184631071C>G	TOPMed
CASP3	P42574	p.Glu190Asp	rs1049210	missense variant	-	NC_000004.12:g.184631071C>A	TOPMed
CASP3	P42574	p.Ala191Val	rs752598551	missense variant	-	NC_000004.12:g.184631069G>A	ExAC,gnomAD
CASP3	P42574	p.Asp192Asn	rs543443896	missense variant	-	NC_000004.12:g.184631067C>T	-
CASP3	P42574	p.Leu194Phe	rs759274147	missense variant	-	NC_000004.12:g.184631059C>G	ExAC,gnomAD
CASP3	P42574	p.Thr199Ile	rs143138537	missense variant	-	NC_000004.12:g.184631045G>A	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Gly202Asp	rs1467034287	missense variant	-	NC_000004.12:g.184629501C>T	gnomAD
CASP3	P42574	p.Arg207Gln	rs149499063	missense variant	-	NC_000004.12:g.184629486C>T	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg207Ter	rs757302190	stop gained	-	NC_000004.12:g.184629487G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Asp211Asn	rs1309003064	missense variant	-	NC_000004.12:g.184629475C>T	gnomAD
CASP3	P42574	p.Gln217His	rs754910045	missense variant	-	NC_000004.12:g.184629455C>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ser218Leu	rs371145290	missense variant	-	NC_000004.12:g.184629453G>A	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Met222Thr	rs1209850813	missense variant	-	NC_000004.12:g.184629441A>G	TOPMed
CASP3	P42574	p.Met222Val	rs1438069348	missense variant	-	NC_000004.12:g.184629442T>C	gnomAD
CASP3	P42574	p.Gln225Arg	rs762726706	missense variant	-	NC_000004.12:g.184629432T>C	ExAC,gnomAD
CASP3	P42574	p.Tyr226His	rs137982553	missense variant	-	NC_000004.12:g.184629430A>G	ESP,TOPMed,gnomAD
CASP3	P42574	p.Ala227Val	rs772892566	missense variant	-	NC_000004.12:g.184629426G>A	ExAC
CASP3	P42574	p.Asp228Glu	rs1021939847	missense variant	-	NC_000004.12:g.184629422G>C	TOPMed
CASP3	P42574	p.Asp228Asn	rs146955836	missense variant	-	NC_000004.12:g.184629424C>T	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Met233Ile	rs776313562	missense variant	-	NC_000004.12:g.184629407C>T	ExAC,gnomAD
CASP3	P42574	p.Met233Thr	rs1415201058	missense variant	-	NC_000004.12:g.184629408A>G	gnomAD
CASP3	P42574	p.Met233Val	rs1170037815	missense variant	-	NC_000004.12:g.184629409T>C	gnomAD
CASP3	P42574	p.His234Gln	rs964440992	missense variant	-	NC_000004.12:g.184629404G>T	TOPMed,gnomAD
CASP3	P42574	p.Thr237Asn	rs1036029017	missense variant	-	NC_000004.12:g.184629396G>T	TOPMed
CASP3	P42574	p.Arg238Trp	rs917537082	missense variant	-	NC_000004.12:g.184629394G>A	TOPMed,gnomAD
CASP3	P42574	p.Arg238Gln	rs747505178	missense variant	-	NC_000004.12:g.184629393C>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Val239Ile	rs1429740601	missense variant	-	NC_000004.12:g.184629391C>T	TOPMed,gnomAD
CASP3	P42574	p.Arg241Leu	rs746265920	missense variant	-	NC_000004.12:g.184629384C>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg241Ter	rs370247095	stop gained	-	NC_000004.12:g.184629385G>A	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Arg241Gln	rs746265920	missense variant	-	NC_000004.12:g.184629384C>T	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Ala244Val	rs757499609	missense variant	-	NC_000004.12:g.184629375G>A	ExAC,TOPMed,gnomAD
CASP3	P42574	p.Glu246Lys	rs749295788	missense variant	-	NC_000004.12:g.184629370C>T	ExAC,gnomAD
CASP3	P42574	p.Ala254Thr	rs1393598499	missense variant	-	NC_000004.12:g.184629346C>T	TOPMed,gnomAD
CASP3	P42574	p.Thr255Pro	rs751514857	missense variant	-	NC_000004.12:g.184629343T>G	ExAC,gnomAD
CASP3	P42574	p.Ile262Val	rs761562836	missense variant	-	NC_000004.12:g.184629322T>C	ExAC,gnomAD
CASP3	P42574	p.Ile262Phe	rs761562836	missense variant	-	NC_000004.12:g.184629322T>A	ExAC,gnomAD
CASP3	P42574	p.Cys264Ser	rs1380940766	missense variant	-	NC_000004.12:g.184629316A>T	gnomAD
CASP3	P42574	p.Met268Ile	rs372434595	missense variant	-	NC_000004.12:g.184629302C>T	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.Glu272Ter	rs1037653105	stop gained	-	NC_000004.12:g.184629292C>A	TOPMed
CASP3	P42574	p.Glu272Asp	rs1012893902	missense variant	-	NC_000004.12:g.184629290T>G	TOPMed
CASP3	P42574	p.Tyr274Ter	rs760142031	stop gained	-	NC_000004.12:g.184629284A>C	ExAC,gnomAD
CASP3	P42574	p.Tyr276His	rs369841492	missense variant	-	NC_000004.12:g.184629280A>G	ESP,ExAC,TOPMed,gnomAD
CASP3	P42574	p.His277Tyr	rs147767351	missense variant	-	NC_000004.12:g.184629277G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Met1Ile	RCV000594799	missense variant	-	NC_000001.11:g.11803114C>G	ClinVar
MTHFR	P42898	p.Met1Val	RCV000599118	missense variant	-	NC_000001.11:g.11803116T>C	ClinVar
MTHFR	P42898	p.Val2Ala	rs1332859061	missense variant	-	NC_000001.11:g.11803112A>G	TOPMed
MTHFR	P42898	p.Val2Met	rs760971509	missense variant	-	NC_000001.11:g.11803113C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu4Lys	rs772252042	missense variant	-	NC_000001.11:g.11803107C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu4Gln	rs772252042	missense variant	-	NC_000001.11:g.11803107C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg6Ser	rs748686763	missense variant	-	NC_000001.11:g.11803099T>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg6Gly	COSM4834494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11803101T>C	NCI-TCGA Cosmic
MTHFR	P42898	p.Arg6Thr	COSM3801447	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11803100C>G	NCI-TCGA Cosmic
MTHFR	P42898	p.Gly7Glu	rs925247064	missense variant	-	NC_000001.11:g.11803097C>T	TOPMed,gnomAD
MTHFR	P42898	p.Asn8Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11803094T>C	NCI-TCGA
MTHFR	P42898	p.Ser10Thr	rs143428827	missense variant	-	NC_000001.11:g.11803088C>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser10Asn	rs143428827	missense variant	-	NC_000001.11:g.11803088C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu11Phe	rs768905024	missense variant	-	NC_000001.11:g.11803086G>A	ExAC,gnomAD
MTHFR	P42898	p.Asn12Lys	rs1046343781	missense variant	-	NC_000001.11:g.11803081G>T	TOPMed
MTHFR	P42898	p.Pro13Leu	rs749606539	missense variant	-	NC_000001.11:g.11803079G>A	ExAC,gnomAD
MTHFR	P42898	p.Leu15Ser	rs1417143049	missense variant	-	NC_000001.11:g.11803073A>G	TOPMed,gnomAD
MTHFR	P42898	p.Glu16Gly	rs780279740	missense variant	-	NC_000001.11:g.11803070T>C	ExAC,gnomAD
MTHFR	P42898	p.Ala19Val	rs1333552513	missense variant	-	NC_000001.11:g.11803061G>A	gnomAD
MTHFR	P42898	p.Ser20Gly	rs1410562479	missense variant	-	NC_000001.11:g.11803059T>C	gnomAD
MTHFR	P42898	p.Ser21Arg	rs1215184376	missense variant	-	NC_000001.11:g.11803054A>C	TOPMed
MTHFR	P42898	p.Ser21Asn	rs372125653	missense variant	-	NC_000001.11:g.11803055C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser23Asn	rs777286995	missense variant	-	NC_000001.11:g.11803049C>T	ExAC,gnomAD
MTHFR	P42898	p.Ser23Ile	rs777286995	missense variant	-	NC_000001.11:g.11803049C>A	ExAC,gnomAD
MTHFR	P42898	p.Glu24Asp	rs752585350	missense variant	-	NC_000001.11:g.11803045C>G	ExAC,gnomAD
MTHFR	P42898	p.Lys27Glu	rs1484182630	missense variant	-	NC_000001.11:g.11803038T>C	gnomAD
MTHFR	P42898	p.Ser29Gly	rs1235705216	missense variant	-	NC_000001.11:g.11803032T>C	TOPMed,gnomAD
MTHFR	P42898	p.Ser30Leu	RCV000259822	missense variant	-	NC_000001.11:g.11803028G>A	ClinVar
MTHFR	P42898	p.Ser30Leu	rs886043815	missense variant	-	NC_000001.11:g.11803028G>A	-
MTHFR	P42898	p.Arg31Ser	rs762296846	missense variant	-	NC_000001.11:g.11803024T>A	gnomAD
MTHFR	P42898	p.Thr34Ser	rs759381630	missense variant	-	NC_000001.11:g.11803017T>A	ExAC,gnomAD
MTHFR	P42898	p.Thr34Ile	rs753730796	missense variant	-	NC_000001.11:g.11803016G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro35Leu	rs766242179	missense variant	-	NC_000001.11:g.11803013G>A	ExAC,gnomAD
MTHFR	P42898	p.Gly36Val	rs376266183	missense variant	-	NC_000001.11:g.11803010C>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly36Ala	rs376266183	missense variant	-	NC_000001.11:g.11803010C>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp38His	rs761916311	missense variant	-	NC_000001.11:g.11803005C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu40Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11802999C>T	NCI-TCGA
MTHFR	P42898	p.Arg41Trp	rs749729349	missense variant	-	NC_000001.11:g.11802996G>A	ExAC,gnomAD
MTHFR	P42898	p.Arg41Gln	rs775972969	missense variant	-	NC_000001.11:g.11802995C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu43Asp	COSM4863176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11802988C>G	NCI-TCGA Cosmic
MTHFR	P42898	p.Arg44Lys	rs1395556961	missense variant	-	NC_000001.11:g.11802986C>T	gnomAD
MTHFR	P42898	p.Arg46Pro	rs776483190	missense variant	-	NC_000001.11:g.11802980C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg46Gln	rs776483190	missense variant	-	NC_000001.11:g.11802980C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg46Gln	rs776483190	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802980C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg46Gln	VAR_074111	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802980C>T	UniProt
MTHFR	P42898	p.Arg46Trp	RCV000167586	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802981G>A	ClinVar
MTHFR	P42898	p.Arg46Trp	rs138189536	missense variant	-	NC_000001.11:g.11802981G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg46Gln	RCV000167587	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802980C>T	ClinVar
MTHFR	P42898	p.Lys48Arg	rs992117198	missense variant	-	NC_000001.11:g.11802974T>C	TOPMed,gnomAD
MTHFR	P42898	p.Arg51Pro	rs201618781	missense variant	-	NC_000001.11:g.11802965C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg51Pro	rs201618781	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802965C>G	UniProt,dbSNP
MTHFR	P42898	p.Arg51Pro	VAR_009530	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802965C>G	UniProt
MTHFR	P42898	p.Arg51Gln	rs201618781	missense variant	-	NC_000001.11:g.11802965C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg51Trp	rs764131110	missense variant	-	NC_000001.11:g.11802966G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg51Trp	RCV000175816	missense variant	-	NC_000001.11:g.11802966G>A	ClinVar
MTHFR	P42898	p.Arg51Leu	rs201618781	missense variant	-	NC_000001.11:g.11802965C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg52Gln	rs754980119	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802962C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg52Gln	VAR_004319	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802962C>T	UniProt
MTHFR	P42898	p.Arg52Gln	rs754980119	missense variant	-	NC_000001.11:g.11802962C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg52Pro	rs754980119	missense variant	-	NC_000001.11:g.11802962C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg52Ter	rs986604359	stop gained	-	NC_000001.11:g.11802963G>A	-
MTHFR	P42898	p.Arg52Ter	RCV000625848	nonsense	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802963G>A	ClinVar
MTHFR	P42898	p.Glu54Lys	rs1196257926	missense variant	-	NC_000001.11:g.11802957C>T	TOPMed,gnomAD
MTHFR	P42898	p.Gly56Ala	rs766295185	missense variant	-	NC_000001.11:g.11802950C>G	ExAC,gnomAD
MTHFR	P42898	p.Asp57Asn	rs755932641	missense variant	-	NC_000001.11:g.11802948C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys58Gln	rs750677509	missense variant	-	NC_000001.11:g.11802945T>G	ExAC,gnomAD
MTHFR	P42898	p.Trp59Cys	rs767789270	missense variant	-	NC_000001.11:g.11802940C>A	ExAC,gnomAD
MTHFR	P42898	p.Trp59Ter	rs786204007	stop gained	-	NC_000001.11:g.11802941C>T	TOPMed,gnomAD
MTHFR	P42898	p.Trp59Ser	rs786204007	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802941C>G	UniProt,dbSNP
MTHFR	P42898	p.Trp59Ser	VAR_074113	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802941C>G	UniProt
MTHFR	P42898	p.Trp59Ser	rs786204007	missense variant	-	NC_000001.11:g.11802941C>G	TOPMed,gnomAD
MTHFR	P42898	p.Trp59Ser	RCV000167588	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802941C>G	ClinVar
MTHFR	P42898	p.Glu63Lys	rs774531580	missense variant	-	NC_000001.11:g.11802930C>T	ExAC,gnomAD
MTHFR	P42898	p.Phe65Leu	rs1305385953	missense variant	-	NC_000001.11:g.11802924A>G	TOPMed
MTHFR	P42898	p.Pro66Leu	rs796064512	missense variant	-	NC_000001.11:g.11802920G>A	-
MTHFR	P42898	p.Pro66Leu	RCV000190392	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802920G>A	ClinVar
MTHFR	P42898	p.Arg68Ter	rs763539350	stop gained	-	NC_000001.11:g.11802915G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg68Gln	rs2066472	missense variant	-	NC_000001.11:g.11802914C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg68Gly	RCV000167589	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802915G>C	ClinVar
MTHFR	P42898	p.Arg68Gly	rs763539350	missense variant	-	NC_000001.11:g.11802915G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr69Ala	rs770151367	missense variant	-	NC_000001.11:g.11802912T>C	ExAC,gnomAD
MTHFR	P42898	p.Thr69Ile	rs746177570	missense variant	-	NC_000001.11:g.11802911G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly72Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.11802903C>A	NCI-TCGA
MTHFR	P42898	p.Ile77Val	rs1347839321	missense variant	-	NC_000001.11:g.11802888T>C	gnomAD
MTHFR	P42898	p.Ser78Leu	rs776969786	missense variant	-	NC_000001.11:g.11802884G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser78Ter	rs776969786	stop gained	-	NC_000001.11:g.11802884G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg79Ser	RCV000625779	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801399C>A	ClinVar
MTHFR	P42898	p.Arg79Ser	rs1553187509	missense variant	-	NC_000001.11:g.11801399C>A	-
MTHFR	P42898	p.Phe80Leu	rs541505625	missense variant	-	NC_000001.11:g.11801396A>C	1000Genomes
MTHFR	P42898	p.Asp81Gly	rs1261482213	missense variant	-	NC_000001.11:g.11801394T>C	gnomAD
MTHFR	P42898	p.Arg82Trp	rs786204009	missense variant	-	NC_000001.11:g.11801392G>A	-
MTHFR	P42898	p.Arg82Trp	rs786204009	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801392G>A	UniProt,dbSNP
MTHFR	P42898	p.Arg82Trp	VAR_074115	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801392G>A	UniProt
MTHFR	P42898	p.Arg82Gln	rs778417385	missense variant	-	NC_000001.11:g.11801391C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg82Trp	RCV000167590	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801392G>A	ClinVar
MTHFR	P42898	p.Met83Thr	rs1426036757	missense variant	-	NC_000001.11:g.11801388A>G	TOPMed
MTHFR	P42898	p.Met83Thr	RCV000692160	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801388A>G	ClinVar
MTHFR	P42898	p.Ala85Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11801382G>C	NCI-TCGA
MTHFR	P42898	p.Gly86Val	rs1446205816	missense variant	-	NC_000001.11:g.11801379C>A	gnomAD
MTHFR	P42898	p.Gly87Asp	rs145302631	missense variant	-	NC_000001.11:g.11801376C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu89Val	rs1042792109	missense variant	-	NC_000001.11:g.11801371G>C	TOPMed
MTHFR	P42898	p.Ile91Val	rs761545364	missense variant	-	NC_000001.11:g.11801365T>C	ExAC,gnomAD
MTHFR	P42898	p.Val93Met	rs1239688333	missense variant	-	NC_000001.11:g.11801359C>T	TOPMed
MTHFR	P42898	p.Trp95Cys	rs1338194007	missense variant	-	NC_000001.11:g.11801351C>G	TOPMed
MTHFR	P42898	p.His96Tyr	rs1345151194	missense variant	-	NC_000001.11:g.11801350G>A	gnomAD
MTHFR	P42898	p.Asp100Asn	rs1296179669	missense variant	-	NC_000001.11:g.11801338C>T	gnomAD
MTHFR	P42898	p.Asp104Tyr	COSM4870673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11801326C>A	NCI-TCGA Cosmic
MTHFR	P42898	p.Lys105Arg	rs779696019	missense variant	-	NC_000001.11:g.11801322T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser108Thr	rs1304056030	missense variant	-	NC_000001.11:g.11801314A>T	gnomAD
MTHFR	P42898	p.Ser109Phe	rs745779146	missense variant	-	NC_000001.11:g.11801310G>A	ExAC,gnomAD
MTHFR	P42898	p.Met110Leu	rs1314255798	missense variant	-	NC_000001.11:g.11801308T>G	TOPMed
MTHFR	P42898	p.Met110Ile	rs781158269	missense variant	-	NC_000001.11:g.11801306C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Met110Val	rs1314255798	missense variant	-	NC_000001.11:g.11801308T>C	TOPMed
MTHFR	P42898	p.Met111Ile	rs577135269	missense variant	-	NC_000001.11:g.11801303C>G	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Met111Thr	rs756962297	missense variant	-	NC_000001.11:g.11801304A>G	ExAC,gnomAD
MTHFR	P42898	p.Met111Ile	COSM162598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11801303C>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Ile112Val	rs1421914910	missense variant	-	NC_000001.11:g.11801302T>C	gnomAD
MTHFR	P42898	p.Ala113Pro	rs147257424	missense variant	-	NC_000001.11:g.11801299C>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala113Ser	rs147257424	missense variant	-	NC_000001.11:g.11801299C>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala113Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11801298G>A	NCI-TCGA
MTHFR	P42898	p.Ala113Thr	rs147257424	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801299C>T	UniProt,dbSNP
MTHFR	P42898	p.Ala113Thr	VAR_074116	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801299C>T	UniProt
MTHFR	P42898	p.Ala113Thr	rs147257424	missense variant	-	NC_000001.11:g.11801299C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala113Thr	RCV000167592	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801299C>T	ClinVar
MTHFR	P42898	p.Ser114Gly	rs1199277582	missense variant	-	NC_000001.11:g.11801296T>C	TOPMed,gnomAD
MTHFR	P42898	p.Ala116Thr	rs1056919085	missense variant	-	NC_000001.11:g.11801290C>T	TOPMed
MTHFR	P42898	p.Val117Ala	rs1163498568	missense variant	-	NC_000001.11:g.11801286A>G	TOPMed
MTHFR	P42898	p.Val117Met	rs1200746244	missense variant	-	NC_000001.11:g.11801287C>T	gnomAD
MTHFR	P42898	p.Tyr119Ser	rs1276034428	missense variant	-	NC_000001.11:g.11801280T>G	TOPMed,gnomAD
MTHFR	P42898	p.Tyr119Phe	rs1276034428	missense variant	-	NC_000001.11:g.11801280T>A	TOPMed,gnomAD
MTHFR	P42898	p.Cys120Trp	rs576446829	missense variant	-	NC_000001.11:g.11801276A>C	1000Genomes,TOPMed
MTHFR	P42898	p.Cys120Tyr	rs774066396	missense variant	-	NC_000001.11:g.11801277C>T	ExAC,gnomAD
MTHFR	P42898	p.Glu123Asp	rs1314724398	missense variant	-	NC_000001.11:g.11801267C>G	gnomAD
MTHFR	P42898	p.Thr124Ile	rs768248826	missense variant	-	NC_000001.11:g.11801265G>A	ExAC,gnomAD
MTHFR	P42898	p.Thr124Ser	rs768248826	missense variant	-	NC_000001.11:g.11801265G>C	ExAC,gnomAD
MTHFR	P42898	p.Thr124Ser	RCV000317405	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11801265G>C	ClinVar
MTHFR	P42898	p.Ile125Val	rs762688654	missense variant	-	NC_000001.11:g.11801263T>C	ExAC,gnomAD
MTHFR	P42898	p.His127Tyr	RCV000167593	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801257G>A	ClinVar
MTHFR	P42898	p.His127Tyr	rs769381688	missense variant	-	NC_000001.11:g.11801257G>A	ExAC,gnomAD
MTHFR	P42898	p.His127Tyr	rs769381688	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801257G>A	UniProt,dbSNP
MTHFR	P42898	p.His127Tyr	VAR_074117	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801257G>A	UniProt
MTHFR	P42898	p.Met128Val	rs202095816	missense variant	-	NC_000001.11:g.11801254T>C	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr129Asn	VAR_074118	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Cys130Arg	RCV000167594	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801248A>G	ClinVar
MTHFR	P42898	p.Cys130Arg	rs786204012	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801248A>G	UniProt,dbSNP
MTHFR	P42898	p.Cys130Arg	VAR_074119	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801248A>G	UniProt
MTHFR	P42898	p.Cys130Arg	rs786204012	missense variant	-	NC_000001.11:g.11801248A>G	TOPMed
MTHFR	P42898	p.Arg132Gly	rs1423805621	missense variant	-	NC_000001.11:g.11801242G>C	TOPMed,gnomAD
MTHFR	P42898	p.Arg132His	rs149514973	missense variant	-	NC_000001.11:g.11801241C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg132Cys	rs1423805621	missense variant	-	NC_000001.11:g.11801242G>A	TOPMed,gnomAD
MTHFR	P42898	p.Arg134Leu	rs370713424	missense variant	-	NC_000001.11:g.11801235C>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg134His	rs370713424	missense variant	-	NC_000001.11:g.11801235C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg134Cys	rs45550133	missense variant	-	NC_000001.11:g.11801236G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu136Lys	COSM414145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11801230C>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Glu137Gly	rs778983789	missense variant	-	NC_000001.11:g.11801226T>C	ExAC,gnomAD
MTHFR	P42898	p.Thr139Met	rs1057519360	missense variant	-	NC_000001.11:g.11801220G>A	TOPMed,gnomAD
MTHFR	P42898	p.Thr139Met	RCV000416816	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801220G>A	ClinVar
MTHFR	P42898	p.Gly140Asp	COSM3417941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11801217C>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Leu142Pro	rs761230732	missense variant	-	NC_000001.11:g.11801211A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu142Arg	rs761230732	missense variant	-	NC_000001.11:g.11801211A>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys144Glu	rs965403404	missense variant	-	NC_000001.11:g.11801206T>C	TOPMed,gnomAD
MTHFR	P42898	p.Lys146Asn	rs559073730	missense variant	-	NC_000001.11:g.11801198C>G	TOPMed
MTHFR	P42898	p.Gln147Pro	RCV000167595	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801196T>G	ClinVar
MTHFR	P42898	p.Gln147Pro	rs786204013	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801196T>G	UniProt,dbSNP
MTHFR	P42898	p.Gln147Pro	VAR_074120	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801196T>G	UniProt
MTHFR	P42898	p.Gln147Pro	rs786204013	missense variant	-	NC_000001.11:g.11801196T>G	-
MTHFR	P42898	p.Leu148Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11801193A>C	NCI-TCGA
MTHFR	P42898	p.Gly149Asp	rs1018189670	missense variant	-	NC_000001.11:g.11801190C>T	TOPMed
MTHFR	P42898	p.Gly149Val	VAR_074121	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Ile153Met	rs767890671	missense variant	-	NC_000001.11:g.11801177G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile153Met	rs767890671	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801177G>C	UniProt,dbSNP
MTHFR	P42898	p.Ile153Met	VAR_074122	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801177G>C	UniProt
MTHFR	P42898	p.Ile153Phe	rs1006833485	missense variant	-	NC_000001.11:g.11801179T>A	TOPMed
MTHFR	P42898	p.Met154Thr	rs762719063	missense variant	-	NC_000001.11:g.11801175A>G	ExAC,gnomAD
MTHFR	P42898	p.Ala155Val	rs775245791	missense variant	-	NC_000001.11:g.11801172G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg157Gln	rs121434295	missense variant	-	NC_000001.11:g.11801166C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg157Gln	rs121434295	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801166C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg157Gln	VAR_004320	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801166C>T	UniProt
MTHFR	P42898	p.Arg157Trp	rs776195746	missense variant	-	NC_000001.11:g.11801167G>A	ExAC,gnomAD
MTHFR	P42898	p.Arg157Gln	RCV000003696	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11801166C>T	ClinVar
MTHFR	P42898	p.Gly158Glu	rs772932189	missense variant	-	NC_000001.11:g.11801163C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly158Ter	COSM4868230	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.11801164C>A	NCI-TCGA Cosmic
MTHFR	P42898	p.Asp159Asn	rs138524217	missense variant	-	NC_000001.11:g.11801161C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile161Val	rs1300017706	missense variant	-	NC_000001.11:g.11800317T>C	TOPMed
MTHFR	P42898	p.Asp163Tyr	rs1460500942	missense variant	-	NC_000001.11:g.11800311C>A	TOPMed
MTHFR	P42898	p.Asp163Gly	rs1373074715	missense variant	-	NC_000001.11:g.11800310T>C	TOPMed
MTHFR	P42898	p.Trp165Ter	rs774118546	stop gained	-	NC_000001.11:g.11800303C>T	ExAC,gnomAD
MTHFR	P42898	p.Glu169Asp	rs768932563	missense variant	-	NC_000001.11:g.11800291C>G	ExAC,gnomAD
MTHFR	P42898	p.Gly170Arg	rs1164755333	missense variant	-	NC_000001.11:g.11800290C>G	TOPMed
MTHFR	P42898	p.Gly170Glu	COSM3801445	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11800289C>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Gly171Ala	rs1341453283	missense variant	-	NC_000001.11:g.11800286C>G	gnomAD
MTHFR	P42898	p.Phe172Ser	rs1398686840	missense variant	-	NC_000001.11:g.11800283A>G	gnomAD
MTHFR	P42898	p.Asn173Ser	rs1334889051	missense variant	-	NC_000001.11:g.11800280T>C	gnomAD
MTHFR	P42898	p.Ala175Thr	rs1182635980	missense variant	-	NC_000001.11:g.11800275C>T	TOPMed
MTHFR	P42898	p.Val176Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11800271A>G	NCI-TCGA
MTHFR	P42898	p.Asp177His	rs1172158928	missense variant	-	NC_000001.11:g.11800269C>G	gnomAD
MTHFR	P42898	p.Val179Met	rs1424071829	missense variant	-	NC_000001.11:g.11800263C>T	gnomAD
MTHFR	P42898	p.Val179Leu	rs1424071829	missense variant	-	NC_000001.11:g.11800263C>A	gnomAD
MTHFR	P42898	p.Ile182Val	rs781742574	missense variant	-	NC_000001.11:g.11800254T>C	ExAC,gnomAD
MTHFR	P42898	p.Arg183Ter	rs121434294	stop gained	-	NC_000001.11:g.11800251G>A	-
MTHFR	P42898	p.Arg183Ter	RCV000003695	nonsense	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11800251G>A	ClinVar
MTHFR	P42898	p.Arg183Gln	rs574132670	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11800250C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg183Gln	VAR_074124	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11800250C>T	UniProt
MTHFR	P42898	p.Arg183Gln	rs574132670	missense variant	-	NC_000001.11:g.11800250C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg183Leu	COSM4875648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11800250C>A	NCI-TCGA Cosmic
MTHFR	P42898	p.Arg183Gln	RCV000167596	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11800250C>T	ClinVar
MTHFR	P42898	p.Ser184Ile	rs752039471	missense variant	-	NC_000001.11:g.11800247C>A	ExAC,gnomAD
MTHFR	P42898	p.Phe186Ser	rs764524250	missense variant	-	NC_000001.11:g.11800241A>G	ExAC,gnomAD
MTHFR	P42898	p.Asp188His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11800236C>G	NCI-TCGA
MTHFR	P42898	p.Asp188Asn	rs1202625373	missense variant	-	NC_000001.11:g.11800236C>T	gnomAD
MTHFR	P42898	p.Tyr189Ser	rs555964132	missense variant	-	NC_000001.11:g.11800232T>G	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Ile192Thr	rs765834557	missense variant	-	NC_000001.11:g.11800223A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile192Val	rs1258318951	missense variant	-	NC_000001.11:g.11800224T>C	gnomAD
MTHFR	P42898	p.Val194Met	rs1285236808	missense variant	-	NC_000001.11:g.11800218C>T	gnomAD
MTHFR	P42898	p.Val194Leu	rs1285236808	missense variant	-	NC_000001.11:g.11800218C>A	gnomAD
MTHFR	P42898	p.Ala195Gly	rs760161369	missense variant	-	NC_000001.11:g.11800214G>C	ExAC,gnomAD
MTHFR	P42898	p.Ala195Val	rs760161369	missense variant	-	NC_000001.11:g.11800214G>A	ExAC,gnomAD
MTHFR	P42898	p.Gly196Asp	RCV000167597	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796399C>T	ClinVar
MTHFR	P42898	p.Gly196Asp	rs786204014	missense variant	-	NC_000001.11:g.11796399C>T	-
MTHFR	P42898	p.Gly196Asp	rs786204014	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796399C>T	UniProt,dbSNP
MTHFR	P42898	p.Gly196Asp	VAR_074126	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796399C>T	UniProt
MTHFR	P42898	p.Tyr197Asp	rs776901659	missense variant	-	NC_000001.11:g.11796397A>C	ExAC,gnomAD
MTHFR	P42898	p.Tyr197Phe	rs771090648	missense variant	-	NC_000001.11:g.11796396T>A	ExAC
MTHFR	P42898	p.Tyr197Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796396T>C	NCI-TCGA
MTHFR	P42898	p.Pro198Ala	rs1291640722	missense variant	-	NC_000001.11:g.11796394G>C	gnomAD
MTHFR	P42898	p.Lys199Gln	rs747554082	missense variant	-	NC_000001.11:g.11796391T>G	ExAC
MTHFR	P42898	p.Gly200Ser	rs778353903	missense variant	-	NC_000001.11:g.11796388C>T	ExAC
MTHFR	P42898	p.Pro202Thr	rs1057519361	missense variant	-	NC_000001.11:g.11796382G>T	-
MTHFR	P42898	p.Pro202Thr	RCV000416935	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796382G>T	ClinVar
MTHFR	P42898	p.Pro202Arg	rs1188522801	missense variant	-	NC_000001.11:g.11796381G>C	TOPMed
MTHFR	P42898	p.Glu203Lys	rs1018203291	missense variant	-	NC_000001.11:g.11796379C>T	TOPMed,gnomAD
MTHFR	P42898	p.Gly205Glu	rs1391033297	missense variant	-	NC_000001.11:g.11796372C>T	gnomAD
MTHFR	P42898	p.Gly205Arg	rs748601308	missense variant	-	NC_000001.11:g.11796373C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser206Asn	rs1293871926	missense variant	-	NC_000001.11:g.11796369C>T	gnomAD
MTHFR	P42898	p.Ser206Arg	rs755829023	missense variant	-	NC_000001.11:g.11796368G>T	ExAC,gnomAD
MTHFR	P42898	p.Glu208Lys	rs1363516407	missense variant	-	NC_000001.11:g.11796364C>T	gnomAD
MTHFR	P42898	p.Asp210His	rs1302392264	missense variant	-	NC_000001.11:g.11796358C>G	gnomAD
MTHFR	P42898	p.His213Arg	rs780701935	missense variant	-	NC_000001.11:g.11796348T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys215del	VAR_074127	inframe_deletion	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Lys217Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796336T>C	NCI-TCGA
MTHFR	P42898	p.Val218Ala	rs1418131798	missense variant	-	NC_000001.11:g.11796333A>G	gnomAD
MTHFR	P42898	p.Val218Leu	VAR_074128	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Ser219Cys	rs751512280	missense variant	-	NC_000001.11:g.11796330G>C	ExAC,gnomAD
MTHFR	P42898	p.Ala220Val	rs144920629	missense variant	-	NC_000001.11:g.11796327G>A	ESP,ExAC,gnomAD
MTHFR	P42898	p.Gly221Arg	rs45438591	missense variant	-	NC_000001.11:g.11796325C>T	ExAC,gnomAD
MTHFR	P42898	p.Gly221Ter	RCV000416691	frameshift	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796326del	ClinVar
MTHFR	P42898	p.Ala222Val	rs1801133	missense variant	-	NC_000001.11:g.11796321G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala222Val	RCV000428048	missense variant	-	NC_000001.11:g.11796321G>A	ClinVar
MTHFR	P42898	p.Asp223Asn	rs150847674	missense variant	-	NC_000001.11:g.11796319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp223Asn	RCV000595772	missense variant	-	NC_000001.11:g.11796319C>T	ClinVar
MTHFR	P42898	p.Ile225Leu	rs200100285	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796313T>G	UniProt,dbSNP
MTHFR	P42898	p.Ile225Leu	VAR_074129	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796313T>G	UniProt
MTHFR	P42898	p.Ile225Leu	rs200100285	missense variant	-	NC_000001.11:g.11796313T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile225Val	RCV000361645	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11796313T>C	ClinVar
MTHFR	P42898	p.Ile225Leu	RCV000167599	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796313T>G	ClinVar
MTHFR	P42898	p.Ile225Val	rs200100285	missense variant	-	NC_000001.11:g.11796313T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile226Val	rs773410203	missense variant	-	NC_000001.11:g.11796310T>C	ExAC,gnomAD
MTHFR	P42898	p.Ile226Thr	rs1217691063	missense variant	-	NC_000001.11:g.11796309A>G	gnomAD
MTHFR	P42898	p.Ile226del	VAR_074130	inframe_deletion	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Thr227Met	rs748571395	missense variant	-	NC_000001.11:g.11796306G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu229Pro	rs1362436529	missense variant	-	NC_000001.11:g.11796300A>G	gnomAD
MTHFR	P42898	p.Phe230Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796296G>T	NCI-TCGA
MTHFR	P42898	p.Asp234Asn	rs45589033	missense variant	-	NC_000001.11:g.11796286C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp234Asn	RCV000642248	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796286C>T	ClinVar
MTHFR	P42898	p.Thr235Ile	rs780767010	missense variant	-	NC_000001.11:g.11796282G>A	ExAC,gnomAD
MTHFR	P42898	p.Thr235Ala	rs1177716874	missense variant	-	NC_000001.11:g.11796283T>C	gnomAD
MTHFR	P42898	p.Thr235Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796282G>C	NCI-TCGA
MTHFR	P42898	p.Phe236Leu	rs34279942	missense variant	-	NC_000001.11:g.11796278G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Phe237Leu	rs758413827	missense variant	-	NC_000001.11:g.11796275G>C	ExAC,gnomAD
MTHFR	P42898	p.Phe237Ser	rs1194897557	missense variant	-	NC_000001.11:g.11796276A>G	TOPMed,gnomAD
MTHFR	P42898	p.Arg238His	rs138760604	missense variant	-	NC_000001.11:g.11796273C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg238Cys	rs377571071	missense variant	-	NC_000001.11:g.11796274G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Phe239Leu	rs190090719	missense variant	-	NC_000001.11:g.11796271A>G	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Lys241Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796263C>A	NCI-TCGA
MTHFR	P42898	p.Ala242Ser	rs754122249	missense variant	-	NC_000001.11:g.11796262C>A	ExAC,gnomAD
MTHFR	P42898	p.Ala242Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796261G>T	NCI-TCGA
MTHFR	P42898	p.Ala242Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796262C>G	NCI-TCGA
MTHFR	P42898	p.Ala242Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796261G>A	NCI-TCGA
MTHFR	P42898	p.Cys243Gly	rs760971789	missense variant	-	NC_000001.11:g.11796259A>C	ExAC,gnomAD
MTHFR	P42898	p.Met246Lys	rs140241283	missense variant	-	NC_000001.11:g.11796249A>T	ESP,ExAC,gnomAD
MTHFR	P42898	p.Met246Thr	rs140241283	missense variant	-	NC_000001.11:g.11796249A>G	ESP,ExAC,gnomAD
MTHFR	P42898	p.Ile248Val	rs762403278	missense variant	-	NC_000001.11:g.11796244T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile248Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796242G>C	NCI-TCGA
MTHFR	P42898	p.Ile248Leu	rs762403278	missense variant	-	NC_000001.11:g.11796244T>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr249Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796241T>G	NCI-TCGA
MTHFR	P42898	p.Pro251Ser	rs774681018	missense variant	-	NC_000001.11:g.11796235G>A	ExAC,gnomAD
MTHFR	P42898	p.Pro251Leu	VAR_004322	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Val253Ile	rs200056619	missense variant	-	NC_000001.11:g.11796229C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Val253Phe	VAR_074131	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Pro254Ser	rs786204017	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796226G>A	UniProt,dbSNP
MTHFR	P42898	p.Pro254Ser	VAR_074132	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796226G>A	UniProt
MTHFR	P42898	p.Pro254Ser	rs786204017	missense variant	-	NC_000001.11:g.11796226G>A	gnomAD
MTHFR	P42898	p.Pro254Ser	RCV000167601	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796226G>A	ClinVar
MTHFR	P42898	p.Pro254Ala	rs786204017	missense variant	-	NC_000001.11:g.11796226G>C	gnomAD
MTHFR	P42898	p.Gly255Val	rs786204018	missense variant	-	NC_000001.11:g.11796222C>A	-
MTHFR	P42898	p.Gly255Val	rs786204018	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796222C>A	UniProt,dbSNP
MTHFR	P42898	p.Gly255Val	VAR_074133	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796222C>A	UniProt
MTHFR	P42898	p.Gly255Val	RCV000167602	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796222C>A	ClinVar
MTHFR	P42898	p.Gly255Arg	rs775829502	missense variant	-	NC_000001.11:g.11796223C>T	ExAC,gnomAD
MTHFR	P42898	p.Ile256Asn	RCV000167603	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796219A>T	ClinVar
MTHFR	P42898	p.Ile256Asn	rs373398993	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796219A>T	UniProt,dbSNP
MTHFR	P42898	p.Ile256Asn	VAR_074134	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796219A>T	UniProt
MTHFR	P42898	p.Ile256Asn	rs373398993	missense variant	-	NC_000001.11:g.11796219A>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Phe257Val	rs786204019	missense variant	-	NC_000001.11:g.11796217A>C	TOPMed
MTHFR	P42898	p.Phe257Val	rs786204019	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796217A>C	UniProt,dbSNP
MTHFR	P42898	p.Phe257Val	VAR_074135	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796217A>C	UniProt
MTHFR	P42898	p.Phe257Val	RCV000167604	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796217A>C	ClinVar
MTHFR	P42898	p.Pro258Arg	rs1553186124	missense variant	-	NC_000001.11:g.11796213G>C	-
MTHFR	P42898	p.Pro258His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796213G>T	NCI-TCGA
MTHFR	P42898	p.Pro258Arg	RCV000508460	missense variant	-	NC_000001.11:g.11796213G>C	ClinVar
MTHFR	P42898	p.Ile259Met	rs1317859869	missense variant	-	NC_000001.11:g.11796209G>C	TOPMed
MTHFR	P42898	p.Ile259Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11796210A>T	NCI-TCGA
MTHFR	P42898	p.Gly261Val	rs747665983	missense variant	-	NC_000001.11:g.11795347C>A	ExAC,gnomAD
MTHFR	P42898	p.Tyr262Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11795344T>G	NCI-TCGA
MTHFR	P42898	p.Tyr262Cys	rs1180379572	missense variant	-	NC_000001.11:g.11795344T>C	TOPMed
MTHFR	P42898	p.His263Gln	rs774637461	missense variant	-	NC_000001.11:g.11795340G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.His263Pro	rs142612062	missense variant	-	NC_000001.11:g.11795341T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.His263Pro	RCV000320382	missense variant	-	NC_000001.11:g.11795341T>G	ClinVar
MTHFR	P42898	p.His263Gln	COSM271400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11795340G>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Arg266Trp	rs1333673915	missense variant	-	NC_000001.11:g.11795333G>A	TOPMed,gnomAD
MTHFR	P42898	p.Arg266Gln	rs571238208	missense variant	-	NC_000001.11:g.11795332C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gln267Lys	rs1001575872	missense variant	-	NC_000001.11:g.11795330G>T	TOPMed
MTHFR	P42898	p.Leu268Phe	rs559501574	missense variant	-	NC_000001.11:g.11795327G>A	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Val269Leu	rs1393335339	missense variant	-	NC_000001.11:g.11795324C>G	TOPMed,gnomAD
MTHFR	P42898	p.Val269Met	rs1393335339	missense variant	-	NC_000001.11:g.11795324C>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Val269Met	rs1393335339	missense variant	-	NC_000001.11:g.11795324C>T	TOPMed,gnomAD
MTHFR	P42898	p.Leu271Val	rs750661990	missense variant	-	NC_000001.11:g.11795318G>C	ExAC,gnomAD
MTHFR	P42898	p.Ser272Phe	rs1160573823	missense variant	-	NC_000001.11:g.11795314G>A	gnomAD
MTHFR	P42898	p.Ser272Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11795315A>G	NCI-TCGA
MTHFR	P42898	p.Ser272Phe	RCV000591467	missense variant	-	NC_000001.11:g.11795314G>A	ClinVar
MTHFR	P42898	p.Glu275Lys	rs1299393149	missense variant	-	NC_000001.11:g.11795306C>T	TOPMed
MTHFR	P42898	p.Gln278Ter	rs1443866504	stop gained	-	NC_000001.11:g.11795297G>A	TOPMed
MTHFR	P42898	p.Glu279Ter	rs147750177	stop gained	-	NC_000001.11:g.11795294C>A	ESP,ExAC,TOPMed
MTHFR	P42898	p.Glu279Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11795292C>A	NCI-TCGA
MTHFR	P42898	p.Ile280Met	rs965263063	missense variant	-	NC_000001.11:g.11795289G>C	TOPMed,gnomAD
MTHFR	P42898	p.Val283Met	rs547583387	missense variant	-	NC_000001.11:g.11795282C>T	NCI-TCGA,NCI-TCGA Cosmic
MTHFR	P42898	p.Val283Met	rs547583387	missense variant	-	NC_000001.11:g.11795282C>T	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Ile284Met	rs1163792757	missense variant	-	NC_000001.11:g.11795277A>C	TOPMed
MTHFR	P42898	p.Ile284Thr	rs763476837	missense variant	-	NC_000001.11:g.11795278A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu285Gln	rs372258648	missense variant	-	NC_000001.11:g.11795276C>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu285Lys	rs372258648	missense variant	-	NC_000001.11:g.11795276C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu285Lys	RCV000312218	missense variant	-	NC_000001.11:g.11795276C>T	ClinVar
MTHFR	P42898	p.Pro286Thr	rs1286086809	missense variant	-	NC_000001.11:g.11795273G>T	gnomAD
MTHFR	P42898	p.Ile287Val	rs1224922440	missense variant	-	NC_000001.11:g.11795270T>C	gnomAD
MTHFR	P42898	p.Asp289Glu	rs139786244	missense variant	-	NC_000001.11:g.11795262G>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp289Glu	RCV000357793	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11795262G>T	ClinVar
MTHFR	P42898	p.Asn290Asp	rs368735885	missense variant	-	NC_000001.11:g.11795261T>C	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn290Lys	rs141769179	missense variant	-	NC_000001.11:g.11795259G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp291Asn	rs771684838	missense variant	-	NC_000001.11:g.11795258C>T	ExAC,gnomAD
MTHFR	P42898	p.Asp291Asn	rs771684838	missense variant	-	NC_000001.11:g.11795258C>T	NCI-TCGA
MTHFR	P42898	p.Ala292Val	rs774051572	missense variant	-	NC_000001.11:g.11795254G>A	ExAC,gnomAD
MTHFR	P42898	p.Ile294Thr	rs749267753	missense variant	-	NC_000001.11:g.11795248A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg295Cys	rs1398982560	missense variant	-	NC_000001.11:g.11795246G>A	gnomAD
MTHFR	P42898	p.Arg295Leu	COSM462719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11795245C>A	NCI-TCGA Cosmic
MTHFR	P42898	p.Arg295His	COSM5825108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11795245C>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Asn296Ile	rs141237767	missense variant	-	NC_000001.11:g.11795242T>A	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Tyr297His	rs1479160387	missense variant	-	NC_000001.11:g.11795240A>G	gnomAD
MTHFR	P42898	p.Tyr297Ter	rs367992906	stop gained	-	NC_000001.11:g.11795238A>T	ESP,ExAC,gnomAD
MTHFR	P42898	p.Gly298Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11795236C>T	NCI-TCGA
MTHFR	P42898	p.Gly298Ser	rs745716822	missense variant	-	NC_000001.11:g.11795237C>T	ExAC,gnomAD
MTHFR	P42898	p.Glu300Lys	rs1052666226	missense variant	-	NC_000001.11:g.11795231C>T	TOPMed
MTHFR	P42898	p.Ala302Val	rs747207640	missense variant	-	NC_000001.11:g.11795224G>A	ExAC,gnomAD
MTHFR	P42898	p.Val303Met	rs143466425	missense variant	-	NC_000001.11:g.11795222C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala311Asp	rs765794603	missense variant	-	NC_000001.11:g.11795197G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly313Ala	rs200890679	missense variant	-	NC_000001.11:g.11795191C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro316Leu	rs766741086	missense variant	-	NC_000001.11:g.11795182G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu318Val	rs1429249641	missense variant	-	NC_000001.11:g.11795177G>C	TOPMed,gnomAD
MTHFR	P42898	p.Leu318His	rs761392430	missense variant	-	NC_000001.11:g.11795176A>T	ExAC,gnomAD
MTHFR	P42898	p.Leu318Phe	rs1429249641	missense variant	-	NC_000001.11:g.11795177G>A	TOPMed,gnomAD
MTHFR	P42898	p.His319Tyr	rs774104819	missense variant	-	NC_000001.11:g.11795174G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr322Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11795164G>C	NCI-TCGA
MTHFR	P42898	p.Leu323Pro	rs121434297	missense variant	-	NC_000001.11:g.11795161A>G	ExAC,gnomAD
MTHFR	P42898	p.Leu323Pro	rs121434297	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795161A>G	UniProt,dbSNP
MTHFR	P42898	p.Leu323Pro	VAR_009531	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795161A>G	UniProt
MTHFR	P42898	p.Leu323Pro	RCV000003707	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11795161A>G	ClinVar
MTHFR	P42898	p.Asn324Ser	rs267606887	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795158T>C	UniProt,dbSNP
MTHFR	P42898	p.Asn324Ser	VAR_009532	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795158T>C	UniProt
MTHFR	P42898	p.Asn324Ser	rs267606887	missense variant	-	NC_000001.11:g.11795158T>C	-
MTHFR	P42898	p.Asn324Ser	RCV000003700	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11795158T>C	ClinVar
MTHFR	P42898	p.Arg325His	rs56182143	missense variant	-	NC_000001.11:g.11795155C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg325Cys	rs371085894	missense variant	-	NC_000001.11:g.11795156G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg325Cys	rs371085894	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795156G>A	UniProt,dbSNP
MTHFR	P42898	p.Arg325Cys	VAR_004323	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795156G>A	UniProt
MTHFR	P42898	p.Glu326Ter	rs777918196	stop gained	-	NC_000001.11:g.11795153C>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu326Lys	rs777918196	missense variant	-	NC_000001.11:g.11795153C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Val332Leu	rs1202644044	missense variant	-	NC_000001.11:g.11795135C>A	gnomAD
MTHFR	P42898	p.Arg335His	rs543016186	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795125C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg335His	VAR_074136	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795125C>T	UniProt
MTHFR	P42898	p.Arg335Pro	rs543016186	missense variant	-	NC_000001.11:g.11795125C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg335His	rs543016186	missense variant	-	NC_000001.11:g.11795125C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg335Cys	rs748289202	missense variant	-	NC_000001.11:g.11795126G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg335His	RCV000167606	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11795125C>T	ClinVar
MTHFR	P42898	p.Gly337Arg	rs1214062050	missense variant	-	NC_000001.11:g.11795120C>T	TOPMed
MTHFR	P42898	p.Gly337Glu	rs1285327482	missense variant	-	NC_000001.11:g.11795119C>T	TOPMed,gnomAD
MTHFR	P42898	p.Met338Leu	rs959908870	missense variant	-	NC_000001.11:g.11795117T>G	TOPMed
MTHFR	P42898	p.Met338Ile	rs766683363	missense variant	-	NC_000001.11:g.11795115C>T	ExAC,gnomAD
MTHFR	P42898	p.Met338Thr	rs368321176	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795116A>G	UniProt,dbSNP
MTHFR	P42898	p.Met338Thr	VAR_074137	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795116A>G	UniProt
MTHFR	P42898	p.Met338Thr	rs368321176	missense variant	-	NC_000001.11:g.11795116A>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Trp339Ter	rs1400753058	stop gained	-	NC_000001.11:g.11795113C>T	gnomAD
MTHFR	P42898	p.Trp339Ter	rs375607927	stop gained	-	NC_000001.11:g.11795112C>T	ESP,ExAC,gnomAD
MTHFR	P42898	p.Trp339Gly	RCV000003701	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11795114A>C	ClinVar
MTHFR	P42898	p.Trp339Gly	rs267606886	missense variant	-	NC_000001.11:g.11795114A>C	-
MTHFR	P42898	p.Trp339Gly	rs267606886	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795114A>C	UniProt,dbSNP
MTHFR	P42898	p.Trp339Gly	VAR_009533	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795114A>C	UniProt
MTHFR	P42898	p.Thr340Ser	rs751268792	missense variant	-	NC_000001.11:g.11795110G>C	ExAC,gnomAD
MTHFR	P42898	p.Asp342Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11795105C>T	NCI-TCGA
MTHFR	P42898	p.Asp342Glu	rs763896620	missense variant	-	NC_000001.11:g.11795103G>T	ExAC,gnomAD
MTHFR	P42898	p.Pro343Ala	rs762663885	missense variant	-	NC_000001.11:g.11795102G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro343Leu	rs775190420	missense variant	-	NC_000001.11:g.11795101G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro343Ser	rs762663885	missense variant	-	NC_000001.11:g.11795102G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg345Cys	rs759031330	missense variant	-	NC_000001.11:g.11794862G>A	ExAC
MTHFR	P42898	p.Arg345His	rs753278299	missense variant	-	NC_000001.11:g.11794861C>T	ExAC,gnomAD
MTHFR	P42898	p.Arg345His	rs753278299	missense variant	-	NC_000001.11:g.11794861C>T	NCI-TCGA,NCI-TCGA Cosmic
MTHFR	P42898	p.Arg345His	RCV000179910	missense variant	-	NC_000001.11:g.11794861C>T	ClinVar
MTHFR	P42898	p.Arg345Cys	RCV000416797	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794862G>A	ClinVar
MTHFR	P42898	p.Pro346Arg	rs766410193	missense variant	-	NC_000001.11:g.11794858G>C	ExAC,gnomAD
MTHFR	P42898	p.Pro348Ser	rs786204021	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794853G>A	UniProt,dbSNP
MTHFR	P42898	p.Pro348Ser	VAR_074138	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794853G>A	UniProt
MTHFR	P42898	p.Pro348Ser	rs786204021	missense variant	-	NC_000001.11:g.11794853G>A	-
MTHFR	P42898	p.Pro348Ser	RCV000167607	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794853G>A	ClinVar
MTHFR	P42898	p.Ala350Thr	rs1333598161	missense variant	-	NC_000001.11:g.11794847C>T	TOPMed
MTHFR	P42898	p.Ala350Asp	rs760570032	missense variant	-	NC_000001.11:g.11794846G>T	ExAC,gnomAD
MTHFR	P42898	p.Ala350Gly	rs760570032	missense variant	-	NC_000001.11:g.11794846G>C	ExAC,gnomAD
MTHFR	P42898	p.Ser352Asn	rs1048531030	missense variant	-	NC_000001.11:g.11794840C>T	TOPMed,gnomAD
MTHFR	P42898	p.Ser352Ile	rs1048531030	missense variant	-	NC_000001.11:g.11794840C>A	TOPMed,gnomAD
MTHFR	P42898	p.Ala353Thr	rs771802611	missense variant	-	NC_000001.11:g.11794838C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.His354Tyr	rs786204022	missense variant	-	NC_000001.11:g.11794835G>A	gnomAD
MTHFR	P42898	p.His354Tyr	rs786204022	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794835G>A	UniProt,dbSNP
MTHFR	P42898	p.His354Tyr	VAR_074139	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794835G>A	UniProt
MTHFR	P42898	p.His354Tyr	RCV000167608	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794835G>A	ClinVar
MTHFR	P42898	p.His354Gln	rs776606131	missense variant	-	NC_000001.11:g.11794833G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro355Thr	rs768630799	missense variant	-	NC_000001.11:g.11794832G>T	ExAC,gnomAD
MTHFR	P42898	p.Pro355Leu	RCV000179909	missense variant	-	NC_000001.11:g.11794831G>A	ClinVar
MTHFR	P42898	p.Pro355Ser	rs768630799	missense variant	-	NC_000001.11:g.11794832G>A	ExAC,gnomAD
MTHFR	P42898	p.Pro355Leu	rs794727869	missense variant	-	NC_000001.11:g.11794831G>A	-
MTHFR	P42898	p.Lys356Met	rs1165346530	missense variant	-	NC_000001.11:g.11794828T>A	TOPMed
MTHFR	P42898	p.Arg357His	rs977038830	missense variant	-	NC_000001.11:g.11794825C>T	TOPMed
MTHFR	P42898	p.Arg357Cys	rs779993607	missense variant	-	NC_000001.11:g.11794826G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg357His	rs977038830	missense variant	-	NC_000001.11:g.11794825C>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Arg358Pro	rs768873896	missense variant	-	NC_000001.11:g.11794822C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg358Ter	rs377443637	stop gained	-	NC_000001.11:g.11794823G>A	ESP,ExAC,gnomAD
MTHFR	P42898	p.Arg358Ter	rs377443637	stop gained	-	NC_000001.11:g.11794823G>A	NCI-TCGA,NCI-TCGA Cosmic
MTHFR	P42898	p.Arg358Ter	RCV000538018	nonsense	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794823G>A	ClinVar
MTHFR	P42898	p.Arg358Gln	rs768873896	missense variant	-	NC_000001.11:g.11794822C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu360Lys	rs757627437	missense variant	-	NC_000001.11:g.11794817C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp361Tyr	rs752303359	missense variant	-	NC_000001.11:g.11794814C>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp361His	rs752303359	missense variant	-	NC_000001.11:g.11794814C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg363His	rs786204023	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794807C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg363His	VAR_074140	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794807C>T	UniProt
MTHFR	P42898	p.Arg363His	rs786204023	missense variant	-	NC_000001.11:g.11794807C>T	gnomAD
MTHFR	P42898	p.Arg363Cys	rs778682219	missense variant	-	NC_000001.11:g.11794808G>A	ExAC,gnomAD
MTHFR	P42898	p.Arg363His	RCV000167609	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794807C>T	ClinVar
MTHFR	P42898	p.Arg363His	rs786204023	missense variant	-	NC_000001.11:g.11794807C>T	NCI-TCGA,NCI-TCGA Cosmic
MTHFR	P42898	p.Phe366Leu	COSM6120383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794797G>C	NCI-TCGA Cosmic
MTHFR	P42898	p.Ala368Ser	COSM271399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794793C>A	NCI-TCGA Cosmic
MTHFR	P42898	p.Ser369Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11794789G>C	NCI-TCGA
MTHFR	P42898	p.Lys372Glu	rs786204024	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794781T>C	UniProt,dbSNP
MTHFR	P42898	p.Lys372Glu	VAR_074141	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794781T>C	UniProt
MTHFR	P42898	p.Lys372Glu	rs786204024	missense variant	-	NC_000001.11:g.11794781T>C	-
MTHFR	P42898	p.Lys372Glu	RCV000167610	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794781T>C	ClinVar
MTHFR	P42898	p.Ser373Thr	rs753424131	missense variant	-	NC_000001.11:g.11794777C>G	ExAC,gnomAD
MTHFR	P42898	p.Tyr374Ter	rs1343417985	stop gained	-	NC_000001.11:g.11794773G>C	gnomAD
MTHFR	P42898	p.Tyr376Cys	rs765787903	missense variant	-	NC_000001.11:g.11794768T>C	ExAC,gnomAD
MTHFR	P42898	p.Arg377His	rs750323424	missense variant	-	NC_000001.11:g.11794765C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg377Cys	rs121434296	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794766G>A	UniProt,dbSNP
MTHFR	P42898	p.Arg377Cys	VAR_009534	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794766G>A	UniProt
MTHFR	P42898	p.Arg377Cys	rs121434296	missense variant	-	NC_000001.11:g.11794766G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg377His	rs750323424	missense variant	-	NC_000001.11:g.11794765C>T	NCI-TCGA,NCI-TCGA Cosmic
MTHFR	P42898	p.Arg377Cys	RCV000756357	missense variant	-	NC_000001.11:g.11794766G>A	ClinVar
MTHFR	P42898	p.Gln379Glu	rs1452582304	missense variant	-	NC_000001.11:g.11794760G>C	gnomAD
MTHFR	P42898	p.Gln379Lys	COSM3965733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794760G>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Trp381Arg	rs1406297300	missense variant	-	NC_000001.11:g.11794754A>G	gnomAD
MTHFR	P42898	p.Gly387Asp	rs1430872491	missense variant	-	NC_000001.11:g.11794735C>T	TOPMed,gnomAD
MTHFR	P42898	p.Gly387Asp	rs1430872491	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794735C>T	UniProt,dbSNP
MTHFR	P42898	p.Gly387Asp	VAR_009535	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794735C>T	UniProt
MTHFR	P42898	p.Gly387Asp	rs1430872491	missense variant	-	NC_000001.11:g.11794735C>T	NCI-TCGA Cosmic
MTHFR	P42898	p.Gly387Ser	rs370007225	missense variant	-	NC_000001.11:g.11794736C>T	ESP,ExAC,gnomAD
MTHFR	P42898	p.Arg388Cys	RCV000596599	missense variant	-	NC_000001.11:g.11794733G>A	ClinVar
MTHFR	P42898	p.Arg388His	rs769953411	missense variant	-	NC_000001.11:g.11794732C>T	NCI-TCGA,NCI-TCGA Cosmic
MTHFR	P42898	p.Arg388Cys	rs200138092	missense variant	-	NC_000001.11:g.11794733G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg388Cys	RCV000795662	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794733G>A	ClinVar
MTHFR	P42898	p.Arg388His	rs769953411	missense variant	-	NC_000001.11:g.11794732C>T	ExAC,gnomAD
MTHFR	P42898	p.Arg388His	RCV000661921	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794732C>T	ClinVar
MTHFR	P42898	p.Gly390Val	rs759745583	missense variant	-	NC_000001.11:g.11794536C>A	ExAC,gnomAD
MTHFR	P42898	p.Ser392Phe	rs776842392	missense variant	-	NC_000001.11:g.11794530G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser393Phe	COSM3472042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794527G>A	NCI-TCGA Cosmic
MTHFR	P42898	p.Pro395Ser	rs1298093435	missense variant	-	NC_000001.11:g.11794522G>A	gnomAD
MTHFR	P42898	p.Phe397Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11794515A>G	NCI-TCGA
MTHFR	P42898	p.Phe397Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11794516A>G	NCI-TCGA
MTHFR	P42898	p.Glu399Asp	rs1367495674	missense variant	-	NC_000001.11:g.11794508C>A	TOPMed,gnomAD
MTHFR	P42898	p.Asp402Asn	rs1161806284	missense variant	-	NC_000001.11:g.11794501C>T	gnomAD
MTHFR	P42898	p.Asp402Glu	rs747447307	missense variant	-	NC_000001.11:g.11794499G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Tyr404Ter	rs1402179954	stop gained	-	NC_000001.11:g.11794493G>T	TOPMed
MTHFR	P42898	p.Leu405Phe	rs773652460	missense variant	-	NC_000001.11:g.11794492G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser412Cys	rs779627394	missense variant	-	NC_000001.11:g.11794470G>C	ExAC
MTHFR	P42898	p.Ser412Tyr	rs779627394	missense variant	-	NC_000001.11:g.11794470G>T	ExAC
MTHFR	P42898	p.Ser412Pro	COSM1333134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794471A>G	NCI-TCGA Cosmic
MTHFR	P42898	p.Pro413His	rs1248218813	missense variant	-	NC_000001.11:g.11794467G>T	gnomAD
MTHFR	P42898	p.Pro413Leu	COSM4938683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794467G>A	NCI-TCGA Cosmic
MTHFR	P42898	p.Glu416Gly	rs1204340996	missense variant	-	NC_000001.11:g.11794458T>C	gnomAD
MTHFR	P42898	p.Met420Ile	rs1490503885	missense variant	-	NC_000001.11:g.11794445C>T	gnomAD
MTHFR	P42898	p.Trp421Leu	rs200137991	missense variant	-	NC_000001.11:g.11794443C>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Trp421Ser	rs200137991	missense variant	-	NC_000001.11:g.11794443C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Trp421Ser	RCV000167612	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794443C>G	ClinVar
MTHFR	P42898	p.Trp421Cys	rs200688214	missense variant	-	NC_000001.11:g.11794442C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly422Arg	rs45571736	missense variant	-	NC_000001.11:g.11794441C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly422Arg	rs45571736	missense variant	-	NC_000001.11:g.11794441C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu423Lys	rs757268352	missense variant	-	NC_000001.11:g.11794438C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu423GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.11794437_11794438insC	NCI-TCGA
MTHFR	P42898	p.Glu423Ter	RCV000721980	frameshift	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794443dup	ClinVar
MTHFR	P42898	p.Glu424Gln	rs1476689323	missense variant	-	NC_000001.11:g.11794435C>G	TOPMed
MTHFR	P42898	p.Leu425Val	rs369897291	missense variant	-	NC_000001.11:g.11794432G>C	ESP,ExAC,gnomAD
MTHFR	P42898	p.Thr426Ile	rs763953323	missense variant	-	NC_000001.11:g.11794428G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu428Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11794423C>G	NCI-TCGA
MTHFR	P42898	p.Glu429Gly	rs1801131	missense variant	-	NC_000001.11:g.11794419T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu429Ala	rs1801131	missense variant	-	NC_000001.11:g.11794419T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu429Val	rs1801131	missense variant	-	NC_000001.11:g.11794419T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu429Ala	RCV000144922	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000001.11:g.11794419T>G	ClinVar
MTHFR	P42898	p.Val434Leu	rs759796920	missense variant	-	NC_000001.11:g.11794405C>G	ExAC,gnomAD
MTHFR	P42898	p.Phe435Ser	rs754015864	missense variant	-	NC_000001.11:g.11794401A>G	ExAC,gnomAD
MTHFR	P42898	p.Val436Ile	rs1220885178	missense variant	-	NC_000001.11:g.11794399C>T	TOPMed
MTHFR	P42898	p.Leu437His	rs1181242383	missense variant	-	NC_000001.11:g.11794395A>T	gnomAD
MTHFR	P42898	p.Leu439Pro	rs545086633	missense variant	-	NC_000001.11:g.11794389A>G	1000Genomes,TOPMed
MTHFR	P42898	p.Ser440Leu	rs754554624	missense variant	-	NC_000001.11:g.11794386G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser440Trp	rs754554624	missense variant	-	NC_000001.11:g.11794386G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn444Thr	rs1197193333	missense variant	-	NC_000001.11:g.11794374T>G	gnomAD
MTHFR	P42898	p.Asn444Lys	rs1041048235	missense variant	-	NC_000001.11:g.11794373G>C	TOPMed
MTHFR	P42898	p.Arg445Trp	rs138469955	missense variant	-	NC_000001.11:g.11794372G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg445Gln	rs774694621	missense variant	-	NC_000001.11:g.11794371C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn446Ser	rs1206497521	missense variant	-	NC_000001.11:g.11794368T>C	TOPMed,gnomAD
MTHFR	P42898	p.Lys449Arg	rs1463970820	missense variant	-	NC_000001.11:g.11794359T>C	TOPMed
MTHFR	P42898	p.Val450Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.11794358T>-	NCI-TCGA
MTHFR	P42898	p.Thr451Ile	rs759193051	missense variant	-	NC_000001.11:g.11794085G>A	ExAC
MTHFR	P42898	p.Pro454His	rs1219122595	missense variant	-	NC_000001.11:g.11794076G>T	gnomAD
MTHFR	P42898	p.Pro454Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11794077G>T	NCI-TCGA
MTHFR	P42898	p.Trp455Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11794072C>A	NCI-TCGA
MTHFR	P42898	p.Trp455Ter	RCV000523084	nonsense	-	NC_000001.11:g.11794072C>T	ClinVar
MTHFR	P42898	p.Trp455Ter	rs1553185497	stop gained	-	NC_000001.11:g.11794072C>T	-
MTHFR	P42898	p.Asn456His	rs1310876112	missense variant	-	NC_000001.11:g.11794071T>G	TOPMed,gnomAD
MTHFR	P42898	p.Asp457His	rs371829068	missense variant	-	NC_000001.11:g.11794068C>G	ESP,ExAC,gnomAD
MTHFR	P42898	p.Pro459Leu	COSM4830990	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11794061G>A	NCI-TCGA Cosmic
MTHFR	P42898	p.Ala461Val	rs777304472	missense variant	-	NC_000001.11:g.11794055G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala462Ser	rs1413722522	missense variant	-	NC_000001.11:g.11794053C>A	gnomAD
MTHFR	P42898	p.Ala462Val	rs1420094265	missense variant	-	NC_000001.11:g.11794052G>A	gnomAD
MTHFR	P42898	p.Ser465Arg	rs778887074	missense variant	-	NC_000001.11:g.11794044T>G	ExAC,gnomAD
MTHFR	P42898	p.Glu470Val	rs142617551	missense variant	-	NC_000001.11:g.11794028T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu470Leu	rs886043349	missense variant	-	NC_000001.11:g.11794028_11794029delinsAG	-
MTHFR	P42898	p.Glu470Ter	rs139645527	stop gained	-	NC_000001.11:g.11794029C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu470Leu	RCV000811402	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794028_11794029delinsAG	ClinVar
MTHFR	P42898	p.Glu470Gln	rs139645527	missense variant	-	NC_000001.11:g.11794029C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu470Val	RCV000319501	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11794028T>A	ClinVar
MTHFR	P42898	p.Glu470Leu	RCV000385555	missense variant	-	NC_000001.11:g.11794028_11794029delinsAG	ClinVar
MTHFR	P42898	p.Glu470Ala	VAR_054158	Missense	-	-	UniProt
MTHFR	P42898	p.Arg473Trp	rs750510348	missense variant	-	NC_000001.11:g.11794020G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg473Gln	rs144594875	missense variant	-	NC_000001.11:g.11794019C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg476His	rs751995483	missense variant	-	NC_000001.11:g.11794010C>T	ExAC,gnomAD
MTHFR	P42898	p.Arg476Cys	rs757784497	missense variant	-	NC_000001.11:g.11794011G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly478Val	rs764455987	missense variant	-	NC_000001.11:g.11794004C>A	ExAC,gnomAD
MTHFR	P42898	p.Ile479Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11794000G>C	NCI-TCGA
MTHFR	P42898	p.Ile479Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11794001A>G	NCI-TCGA
MTHFR	P42898	p.Ile482Val	rs1248420915	missense variant	-	NC_000001.11:g.11793993T>C	gnomAD
MTHFR	P42898	p.Gln485Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11793983T>C	NCI-TCGA
MTHFR	P42898	p.Gln485His	rs545002537	missense variant	-	NC_000001.11:g.11793982C>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn487Ser	rs1446936545	missense variant	-	NC_000001.11:g.11793977T>C	gnomAD
MTHFR	P42898	p.Ile488Val	rs1235405305	missense variant	-	NC_000001.11:g.11793975T>C	TOPMed
MTHFR	P42898	p.Asn489Ser	rs775917722	missense variant	-	NC_000001.11:g.11793971T>C	ExAC,gnomAD
MTHFR	P42898	p.Gly490Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11793968C>T	NCI-TCGA
MTHFR	P42898	p.Gly490Arg	rs760349899	missense variant	-	NC_000001.11:g.11793969C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys491Gln	rs1369366243	missense variant	-	NC_000001.11:g.11793966T>G	gnomAD
MTHFR	P42898	p.Pro492Leu	rs772615731	missense variant	-	NC_000001.11:g.11793962G>A	ExAC,gnomAD
MTHFR	P42898	p.Ser493Thr	rs748104181	missense variant	-	NC_000001.11:g.11793960A>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp495Asn	rs749165790	missense variant	-	NC_000001.11:g.11793954C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile497Val	rs1397197928	missense variant	-	NC_000001.11:g.11793948T>C	TOPMed
MTHFR	P42898	p.Ile497Phe	rs1397197928	missense variant	-	NC_000001.11:g.11793948T>A	TOPMed
MTHFR	P42898	p.Val498Met	rs150870770	missense variant	-	NC_000001.11:g.11793945C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Trp500Gly	rs1357376759	missense variant	-	NC_000001.11:g.11793939A>C	gnomAD
MTHFR	P42898	p.Trp500Cys	rs116620395	missense variant	-	NC_000001.11:g.11793937C>G	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Gly504Arg	rs1373785177	missense variant	-	NC_000001.11:g.11793927C>T	gnomAD
MTHFR	P42898	p.Tyr506Cys	rs764650203	missense variant	-	NC_000001.11:g.11793920T>C	ExAC,gnomAD
MTHFR	P42898	p.Tyr506Asp	rs786204026	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11793921A>C	UniProt,dbSNP
MTHFR	P42898	p.Tyr506Asp	VAR_074145	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11793921A>C	UniProt
MTHFR	P42898	p.Tyr506Asp	rs786204026	missense variant	-	NC_000001.11:g.11793921A>C	-
MTHFR	P42898	p.Tyr506Asp	RCV000167614	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11793921A>C	ClinVar
MTHFR	P42898	p.Gln509Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.11793912G>A	NCI-TCGA
MTHFR	P42898	p.Lys510Glu	rs1425929014	missense variant	-	NC_000001.11:g.11793909T>C	gnomAD
MTHFR	P42898	p.Lys510Thr	rs753049408	missense variant	-	NC_000001.11:g.11793908T>G	ExAC,gnomAD
MTHFR	P42898	p.Tyr512Cys	rs1464875135	missense variant	-	NC_000001.11:g.11792375T>C	TOPMed,gnomAD
MTHFR	P42898	p.Leu513Ter	rs1553185069	stop gained	-	NC_000001.11:g.11792372A>C	-
MTHFR	P42898	p.Leu513Ile	rs201888750	missense variant	-	NC_000001.11:g.11792373A>T	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Leu513Ter	RCV000657793	nonsense	-	NC_000001.11:g.11792372A>C	ClinVar
MTHFR	P42898	p.Arg519Leu	rs45449298	missense variant	-	NC_000001.11:g.11792354C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg519Cys	rs45496998	missense variant	-	NC_000001.11:g.11792355G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg519Leu	RCV000763727	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792354C>A	ClinVar
MTHFR	P42898	p.Arg519Leu	RCV000173820	missense variant	-	NC_000001.11:g.11792354C>A	ClinVar
MTHFR	P42898	p.Arg519His	rs45449298	missense variant	-	NC_000001.11:g.11792354C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu520Gln	rs756994487	missense variant	-	NC_000001.11:g.11792352C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu520Lys	rs756994487	missense variant	-	NC_000001.11:g.11792352C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr521Ala	rs1205287921	missense variant	-	NC_000001.11:g.11792349T>C	gnomAD
MTHFR	P42898	p.Thr521Ile	rs1482156613	missense variant	-	NC_000001.11:g.11792348G>A	gnomAD
MTHFR	P42898	p.Ala522Val	rs1255283120	missense variant	-	NC_000001.11:g.11792345G>A	gnomAD
MTHFR	P42898	p.Ala524Gly	rs774934088	missense variant	-	NC_000001.11:g.11792339G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala524Glu	rs774934088	missense variant	-	NC_000001.11:g.11792339G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gln527Arg	rs762581197	missense variant	-	NC_000001.11:g.11792330T>C	ExAC,gnomAD
MTHFR	P42898	p.Gln527Ter	rs1383010048	stop gained	-	NC_000001.11:g.11792331G>A	gnomAD
MTHFR	P42898	p.Val528Ala	rs752143951	missense variant	-	NC_000001.11:g.11792327A>G	ExAC,gnomAD
MTHFR	P42898	p.Lys531Ter	rs759367609	stop gained	-	NC_000001.11:g.11792319T>A	ExAC,gnomAD
MTHFR	P42898	p.Lys531Ter	RCV000416933	frameshift	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792317del	ClinVar
MTHFR	P42898	p.Tyr532Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.11792314G>C	NCI-TCGA
MTHFR	P42898	p.Glu533Lys	rs770670302	missense variant	-	NC_000001.11:g.11792313C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg535Gln	rs773360881	missense variant	-	NC_000001.11:g.11792306C>T	ExAC,gnomAD
MTHFR	P42898	p.Arg535Trp	rs760886915	missense variant	-	NC_000001.11:g.11792307G>A	ExAC,gnomAD
MTHFR	P42898	p.Val536Phe	rs786204028	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11792304C>A	UniProt,dbSNP
MTHFR	P42898	p.Val536Phe	VAR_074146	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11792304C>A	UniProt
MTHFR	P42898	p.Val536Ile	rs786204028	missense variant	-	NC_000001.11:g.11792304C>T	TOPMed
MTHFR	P42898	p.Val536Phe	rs786204028	missense variant	-	NC_000001.11:g.11792304C>A	TOPMed
MTHFR	P42898	p.Val536Ile	RCV000190390	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792304C>T	ClinVar
MTHFR	P42898	p.Val536Phe	RCV000167616	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792304C>A	ClinVar
MTHFR	P42898	p.Asn537Lys	RCV000190391	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792299A>T	ClinVar
MTHFR	P42898	p.Asn537Lys	rs796064511	missense variant	-	NC_000001.11:g.11792299A>T	-
MTHFR	P42898	p.Tyr538His	rs995289143	missense variant	-	NC_000001.11:g.11792298A>G	TOPMed,gnomAD
MTHFR	P42898	p.Tyr538Asn	rs995289143	missense variant	-	NC_000001.11:g.11792298A>T	TOPMed,gnomAD
MTHFR	P42898	p.Val541Ala	rs779726227	missense variant	-	NC_000001.11:g.11792288A>G	TOPMed,gnomAD
MTHFR	P42898	p.Asn542Ser	rs145641996	missense variant	-	NC_000001.11:g.11792285T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn542Thr	rs145641996	missense variant	-	NC_000001.11:g.11792285T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys544Asn	rs769258023	missense variant	-	NC_000001.11:g.11792278C>G	ExAC,gnomAD
MTHFR	P42898	p.Lys544Arg	rs1203757587	missense variant	-	NC_000001.11:g.11792279T>C	gnomAD
MTHFR	P42898	p.Glu546Gln	rs1051649397	missense variant	-	NC_000001.11:g.11791323C>G	TOPMed
MTHFR	P42898	p.Thr549Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11791314T>A	NCI-TCGA
MTHFR	P42898	p.Asn550Ser	rs781388555	missense variant	-	NC_000001.11:g.11791310T>C	ExAC,gnomAD
MTHFR	P42898	p.Asn550Tyr	rs1405669115	missense variant	-	NC_000001.11:g.11791311T>A	TOPMed
MTHFR	P42898	p.Asn550Ser	RCV000280809	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11791310T>C	ClinVar
MTHFR	P42898	p.Ala551Thr	rs140565495	missense variant	-	NC_000001.11:g.11791308C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro556Leu	rs747712448	missense variant	-	NC_000001.11:g.11791292G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro556Leu	RCV000558638	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11791292G>A	ClinVar
MTHFR	P42898	p.Trp561Ter	RCV000709684	nonsense	Neural tube defect (NTD)	NC_000001.11:g.11791276C>T	ClinVar
MTHFR	P42898	p.Gly562Asp	rs1161759917	missense variant	-	NC_000001.11:g.11791274C>T	TOPMed
MTHFR	P42898	p.Gly562Asp	RCV000507518	missense variant	-	NC_000001.11:g.11791274C>T	ClinVar
MTHFR	P42898	p.Arg567Ter	rs140277700	stop gained	-	NC_000001.11:g.11791260G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg567Gln	rs750272108	missense variant	-	NC_000001.11:g.11791259C>T	ExAC,gnomAD
MTHFR	P42898	p.Gln571Ter	rs1434449406	stop gained	-	NC_000001.11:g.11791248G>A	TOPMed
MTHFR	P42898	p.Pro572Leu	rs144508139	missense variant	-	NC_000001.11:g.11791244G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro572Leu	rs144508139	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791244G>A	UniProt,dbSNP
MTHFR	P42898	p.Pro572Leu	VAR_009536	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791244G>A	UniProt
MTHFR	P42898	p.Val574Ile	rs202153689	missense variant	-	NC_000001.11:g.11791239C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Val574Gly	VAR_074147	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Val575Ala	rs786204031	missense variant	-	NC_000001.11:g.11791235A>G	gnomAD
MTHFR	P42898	p.Val575Gly	RCV000167619	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11791235A>C	ClinVar
MTHFR	P42898	p.Val575Gly	rs786204031	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791235A>C	UniProt,dbSNP
MTHFR	P42898	p.Val575Gly	VAR_074148	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791235A>C	UniProt
MTHFR	P42898	p.Val575Gly	rs786204031	missense variant	-	NC_000001.11:g.11791235A>C	gnomAD
MTHFR	P42898	p.Pro577Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11791229G>A	NCI-TCGA
MTHFR	P42898	p.Val578Ile	rs763185082	missense variant	-	NC_000001.11:g.11791227C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Val578Ala	rs1433249020	missense variant	-	NC_000001.11:g.11791226A>G	gnomAD
MTHFR	P42898	p.Phe580Leu	rs770471347	missense variant	-	NC_000001.11:g.11791221A>G	ExAC,gnomAD
MTHFR	P42898	p.Phe580Ter	RCV000149178	frameshift	Malignant tumor of prostate	NC_000001.11:g.11791221del	ClinVar
MTHFR	P42898	p.Met581Val	rs746327818	missense variant	-	NC_000001.11:g.11791218T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Met581Ile	rs45590836	missense variant	-	NC_000001.11:g.11791216C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Met581Thr	rs777084035	missense variant	-	NC_000001.11:g.11791217A>G	ExAC,gnomAD
MTHFR	P42898	p.Met581Ile	RCV000003705	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11791216C>T	ClinVar
MTHFR	P42898	p.Trp583Ter	rs1314085200	stop gained	-	NC_000001.11:g.11791211C>T	TOPMed
MTHFR	P42898	p.Asp585Asn	rs149278646	missense variant	-	NC_000001.11:g.11790898C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu586Lys	rs983672500	missense variant	-	NC_000001.11:g.11790895C>T	TOPMed,gnomAD
MTHFR	P42898	p.Ala587Asp	rs761226286	missense variant	-	NC_000001.11:g.11790891G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala587Val	rs761226286	missense variant	-	NC_000001.11:g.11790891G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala587Gly	rs761226286	missense variant	-	NC_000001.11:g.11790891G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Phe588Ser	rs1030439905	missense variant	-	NC_000001.11:g.11790888A>G	TOPMed
MTHFR	P42898	p.Ile592Thr	rs762599135	missense variant	-	NC_000001.11:g.11790876A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg594Gly	rs775066323	missense variant	-	NC_000001.11:g.11790871G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg594Gln	rs2274976	missense variant	-	NC_000001.11:g.11790870C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg594Trp	rs775066323	missense variant	-	NC_000001.11:g.11790871G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg594Gln	RCV000433699	missense variant	-	NC_000001.11:g.11790870C>T	ClinVar
MTHFR	P42898	p.Trp595Ter	rs745437278	stop gained	-	NC_000001.11:g.11790866C>T	ExAC,gnomAD
MTHFR	P42898	p.Leu598Pro	rs786204034	missense variant	-	NC_000001.11:g.11790858A>G	-
MTHFR	P42898	p.Leu598Pro	rs786204034	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790858A>G	UniProt,dbSNP
MTHFR	P42898	p.Leu598Pro	VAR_074149	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790858A>G	UniProt
MTHFR	P42898	p.Leu598Pro	RCV000167622	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790858A>G	ClinVar
MTHFR	P42898	p.Tyr599Ter	rs770793658	stop gained	-	NC_000001.11:g.11790854A>C	ExAC,gnomAD
MTHFR	P42898	p.TyrGlu599TerTer	rs786204035	stop gained	-	NC_000001.11:g.11790853_11790854delinsAC	-
MTHFR	P42898	p.Glu600Ter	rs201095365	stop gained	-	NC_000001.11:g.11790853C>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu600Asp	rs904238175	missense variant	-	NC_000001.11:g.11790851C>A	TOPMed,gnomAD
MTHFR	P42898	p.Glu600Lys	rs201095365	missense variant	-	NC_000001.11:g.11790853C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu600Ala	COSM4021156	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.11790852T>G	NCI-TCGA Cosmic
MTHFR	P42898	p.Glu602Ala	rs903649610	missense variant	-	NC_000001.11:g.11790846T>G	TOPMed,gnomAD
MTHFR	P42898	p.Glu602Ter	rs1000738509	stop gained	-	NC_000001.11:g.11790847C>A	TOPMed,gnomAD
MTHFR	P42898	p.Ser603Cys	rs758206023	missense variant	-	NC_000001.11:g.11790843G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser603Phe	rs758206023	missense variant	-	NC_000001.11:g.11790843G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser603Cys	RCV000167624	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790843G>C	ClinVar
MTHFR	P42898	p.Pro604Leu	rs747938592	missense variant	-	NC_000001.11:g.11790840G>A	ExAC,gnomAD
MTHFR	P42898	p.Ser605Pro	rs200379144	missense variant	-	NC_000001.11:g.11790838A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg606Cys	rs373747884	missense variant	-	NC_000001.11:g.11790835G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg606His	rs753917964	missense variant	-	NC_000001.11:g.11790834C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gln610Ter	rs1466575883	stop gained	-	NC_000001.11:g.11790823G>A	TOPMed
MTHFR	P42898	p.Gln610Lys	rs1466575883	missense variant	-	NC_000001.11:g.11790823G>T	TOPMed
MTHFR	P42898	p.Gln610Arg	rs1414726290	missense variant	-	NC_000001.11:g.11790822T>C	gnomAD
MTHFR	P42898	p.Tyr611Cys	rs756615138	missense variant	-	NC_000001.11:g.11790819T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Tyr611Phe	rs756615138	missense variant	-	NC_000001.11:g.11790819T>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.His613Gln	rs199730437	missense variant	-	NC_000001.11:g.11790812G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp614His	rs879406669	missense variant	-	NC_000001.11:g.11790811C>G	gnomAD
MTHFR	P42898	p.Asp614Asn	rs879406669	missense variant	-	NC_000001.11:g.11790811C>T	gnomAD
MTHFR	P42898	p.Asn615Asp	rs1487547746	missense variant	-	NC_000001.11:g.11790808T>C	TOPMed,gnomAD
MTHFR	P42898	p.Asn620Ser	rs776034726	missense variant	-	NC_000001.11:g.11790792T>C	ExAC,gnomAD
MTHFR	P42898	p.Leu621Met	rs770407631	missense variant	-	NC_000001.11:g.11790790G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu621Val	rs770407631	missense variant	-	NC_000001.11:g.11790790G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu621Val	RCV000378011	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11790790G>C	ClinVar
MTHFR	P42898	p.Asn624Asp	rs773336859	missense variant	-	NC_000001.11:g.11790781T>C	ExAC,gnomAD
MTHFR	P42898	p.Asn624Ser	rs772127190	missense variant	-	NC_000001.11:g.11790780T>C	ExAC,gnomAD
MTHFR	P42898	p.Asp625Asn	rs942252307	missense variant	-	NC_000001.11:g.11790778C>T	TOPMed
MTHFR	P42898	p.Phe626Leu	rs199707466	missense variant	-	NC_000001.11:g.11790773G>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Phe626Leu	rs747993832	missense variant	-	NC_000001.11:g.11790775A>G	ExAC,gnomAD
MTHFR	P42898	p.Leu628Gln	rs786204037	missense variant	-	NC_000001.11:g.11790768A>T	TOPMed
MTHFR	P42898	p.Leu628Pro	rs786204037	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790768A>G	UniProt,dbSNP
MTHFR	P42898	p.Leu628Pro	VAR_074150	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790768A>G	UniProt
MTHFR	P42898	p.Leu628Pro	rs786204037	missense variant	-	NC_000001.11:g.11790768A>G	TOPMed
MTHFR	P42898	p.Leu628Pro	RCV000167625	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790768A>G	ClinVar
MTHFR	P42898	p.Leu628Val	rs755181257	missense variant	-	NC_000001.11:g.11790769G>C	ExAC,gnomAD
MTHFR	P42898	p.Asp629Gly	rs370272345	missense variant	-	NC_000001.11:g.11790765T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Cys631Tyr	rs756165045	missense variant	-	NC_000001.11:g.11790759C>T	ExAC,gnomAD
MTHFR	P42898	p.Val635Leu	rs190087897	missense variant	-	NC_000001.11:g.11790748C>A	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Glu637Lys	rs1057334427	missense variant	-	NC_000001.11:g.11790742C>T	TOPMed
MTHFR	P42898	p.Asp638Val	rs768081446	missense variant	-	NC_000001.11:g.11790738T>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr639Ile	rs1187304768	missense variant	-	NC_000001.11:g.11790735G>A	TOPMed,gnomAD
MTHFR	P42898	p.Leu643ProPheSerTerUnkUnk	COSM2150324	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.11790723A>-	NCI-TCGA Cosmic
MTHFR	P42898	p.Asn644Lys	rs200947520	missense variant	-	NC_000001.11:g.11790719G>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn644Lys	RCV000642249	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790719G>T	ClinVar
MTHFR	P42898	p.Arg645Ser	rs1206548887	missense variant	-	NC_000001.11:g.11790716C>A	gnomAD
MTHFR	P42898	p.Thr647Ile	rs1445911397	missense variant	-	NC_000001.11:g.11790711G>A	gnomAD
MTHFR	P42898	p.Gln648His	rs776289670	missense variant	-	NC_000001.11:g.11790707C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn649Asp	rs765930342	missense variant	-	NC_000001.11:g.11790706T>C	ExAC,gnomAD
MTHFR	P42898	p.Ala650Val	RCV000321003	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11790702G>A	ClinVar
MTHFR	P42898	p.Ala650Val	rs145544233	missense variant	-	NC_000001.11:g.11790702G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala650Gly	rs145544233	missense variant	-	NC_000001.11:g.11790702G>C	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala650Ser	rs976155115	missense variant	-	NC_000001.11:g.11790703C>A	TOPMed
MTHFR	P42898	p.Arg651Gly	rs1409161468	missense variant	-	NC_000001.11:g.11790700T>C	TOPMed,gnomAD
MTHFR	P42898	p.Arg651Lys	rs1228526408	missense variant	-	NC_000001.11:g.11790699C>T	TOPMed,gnomAD
MTHFR	P42898	p.Glu652Lys	rs1366865284	missense variant	-	NC_000001.11:g.11790697C>T	gnomAD
MTHFR	P42898	p.Glu652Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.11790697C>A	NCI-TCGA
MTHFR	P42898	p.Thr653Met	rs35737219	missense variant	-	NC_000001.11:g.11790693G>A	UniProt,dbSNP
MTHFR	P42898	p.Thr653Met	VAR_018860	missense variant	-	NC_000001.11:g.11790693G>A	UniProt
MTHFR	P42898	p.Thr653Met	rs35737219	missense variant	-	NC_000001.11:g.11790693G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr653Met	RCV000261696	missense variant	-	NC_000001.11:g.11790693G>A	ClinVar
MTHFR	P42898	p.Thr653Met	RCV000534228	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790693G>A	ClinVar
MTHFR	P42898	p.Thr653Met	RCV000755305	missense variant	-	NC_000001.11:g.11790693G>A	ClinVar
MTHFR	P42898	p.Ala655Val	rs761795803	missense variant	-	NC_000001.11:g.11790687G>A	ExAC,gnomAD
MTHFR	P42898	p.Ala655Thr	rs907946954	missense variant	-	NC_000001.11:g.11790688C>T	gnomAD
MTHFR	P42898	p.Pro656Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11790685G>T	NCI-TCGA
MTHFR	P42898	p.Pro656Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.11790685G>A	NCI-TCGA
MTHFR	P42898	p.Ter657Arg	rs768434408	stop lost	-	NC_000001.11:g.11790682A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ter657Ser	rs749490263	stop lost	-	NC_000001.11:g.11790681C>G	ExAC,gnomAD
MTHFR	P42898	p.Ter657Arg	RCV000167626	stop lost	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790682A>G	ClinVar
MTHFR	P42898	p.Met1Ile	RCV000594799	missense variant	-	NC_000001.11:g.11803114C>G	ClinVar
MTHFR	P42898	p.Met1Val	RCV000599118	missense variant	-	NC_000001.11:g.11803116T>C	ClinVar
MTHFR	P42898	p.Val2Met	rs760971509	missense variant	-	NC_000001.11:g.11803113C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Val2Ala	rs1332859061	missense variant	-	NC_000001.11:g.11803112A>G	TOPMed
MTHFR	P42898	p.Glu4Lys	rs772252042	missense variant	-	NC_000001.11:g.11803107C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu4Gln	rs772252042	missense variant	-	NC_000001.11:g.11803107C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg6Ser	rs748686763	missense variant	-	NC_000001.11:g.11803099T>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly7Glu	rs925247064	missense variant	-	NC_000001.11:g.11803097C>T	TOPMed,gnomAD
MTHFR	P42898	p.Ser10Thr	rs143428827	missense variant	-	NC_000001.11:g.11803088C>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser10Asn	rs143428827	missense variant	-	NC_000001.11:g.11803088C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu11Phe	rs768905024	missense variant	-	NC_000001.11:g.11803086G>A	ExAC,gnomAD
MTHFR	P42898	p.Asn12Lys	rs1046343781	missense variant	-	NC_000001.11:g.11803081G>T	TOPMed
MTHFR	P42898	p.Pro13Leu	rs749606539	missense variant	-	NC_000001.11:g.11803079G>A	ExAC,gnomAD
MTHFR	P42898	p.Leu15Ser	rs1417143049	missense variant	-	NC_000001.11:g.11803073A>G	TOPMed,gnomAD
MTHFR	P42898	p.Glu16Gly	rs780279740	missense variant	-	NC_000001.11:g.11803070T>C	ExAC,gnomAD
MTHFR	P42898	p.Ala19Val	rs1333552513	missense variant	-	NC_000001.11:g.11803061G>A	gnomAD
MTHFR	P42898	p.Ser20Gly	rs1410562479	missense variant	-	NC_000001.11:g.11803059T>C	gnomAD
MTHFR	P42898	p.Ser21Arg	rs1215184376	missense variant	-	NC_000001.11:g.11803054A>C	TOPMed
MTHFR	P42898	p.Ser21Asn	rs372125653	missense variant	-	NC_000001.11:g.11803055C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser23Ile	rs777286995	missense variant	-	NC_000001.11:g.11803049C>A	ExAC,gnomAD
MTHFR	P42898	p.Ser23Asn	rs777286995	missense variant	-	NC_000001.11:g.11803049C>T	ExAC,gnomAD
MTHFR	P42898	p.Glu24Asp	rs752585350	missense variant	-	NC_000001.11:g.11803045C>G	ExAC,gnomAD
MTHFR	P42898	p.Lys27Glu	rs1484182630	missense variant	-	NC_000001.11:g.11803038T>C	gnomAD
MTHFR	P42898	p.Ser29Gly	rs1235705216	missense variant	-	NC_000001.11:g.11803032T>C	TOPMed,gnomAD
MTHFR	P42898	p.Ser30Leu	rs886043815	missense variant	-	NC_000001.11:g.11803028G>A	-
MTHFR	P42898	p.Ser30Leu	RCV000259822	missense variant	-	NC_000001.11:g.11803028G>A	ClinVar
MTHFR	P42898	p.Arg31Ser	rs762296846	missense variant	-	NC_000001.11:g.11803024T>A	gnomAD
MTHFR	P42898	p.Thr34Ser	rs759381630	missense variant	-	NC_000001.11:g.11803017T>A	ExAC,gnomAD
MTHFR	P42898	p.Thr34Ile	rs753730796	missense variant	-	NC_000001.11:g.11803016G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro35Leu	rs766242179	missense variant	-	NC_000001.11:g.11803013G>A	ExAC,gnomAD
MTHFR	P42898	p.Gly36Val	rs376266183	missense variant	-	NC_000001.11:g.11803010C>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly36Ala	rs376266183	missense variant	-	NC_000001.11:g.11803010C>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp38His	rs761916311	missense variant	-	NC_000001.11:g.11803005C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg41Trp	rs749729349	missense variant	-	NC_000001.11:g.11802996G>A	ExAC,gnomAD
MTHFR	P42898	p.Arg41Gln	rs775972969	missense variant	-	NC_000001.11:g.11802995C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg44Lys	rs1395556961	missense variant	-	NC_000001.11:g.11802986C>T	gnomAD
MTHFR	P42898	p.Arg46Gln	rs776483190	missense variant	-	NC_000001.11:g.11802980C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg46Gln	rs776483190	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802980C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg46Gln	VAR_074111	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802980C>T	UniProt
MTHFR	P42898	p.Arg46Pro	rs776483190	missense variant	-	NC_000001.11:g.11802980C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg46Trp	RCV000167586	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802981G>A	ClinVar
MTHFR	P42898	p.Arg46Trp	rs138189536	missense variant	-	NC_000001.11:g.11802981G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg46Gln	RCV000167587	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802980C>T	ClinVar
MTHFR	P42898	p.Lys48Arg	rs992117198	missense variant	-	NC_000001.11:g.11802974T>C	TOPMed,gnomAD
MTHFR	P42898	p.Arg51Trp	RCV000175816	missense variant	-	NC_000001.11:g.11802966G>A	ClinVar
MTHFR	P42898	p.Arg51Pro	rs201618781	missense variant	-	NC_000001.11:g.11802965C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg51Pro	rs201618781	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802965C>G	UniProt,dbSNP
MTHFR	P42898	p.Arg51Pro	VAR_009530	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802965C>G	UniProt
MTHFR	P42898	p.Arg51Gln	rs201618781	missense variant	-	NC_000001.11:g.11802965C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg51Trp	rs764131110	missense variant	-	NC_000001.11:g.11802966G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg51Leu	rs201618781	missense variant	-	NC_000001.11:g.11802965C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg52Ter	RCV000625848	nonsense	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802963G>A	ClinVar
MTHFR	P42898	p.Arg52Gln	rs754980119	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802962C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg52Gln	VAR_004319	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802962C>T	UniProt
MTHFR	P42898	p.Arg52Gln	rs754980119	missense variant	-	NC_000001.11:g.11802962C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg52Ter	rs986604359	stop gained	-	NC_000001.11:g.11802963G>A	-
MTHFR	P42898	p.Arg52Pro	rs754980119	missense variant	-	NC_000001.11:g.11802962C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu54Lys	rs1196257926	missense variant	-	NC_000001.11:g.11802957C>T	TOPMed,gnomAD
MTHFR	P42898	p.Gly56Ala	rs766295185	missense variant	-	NC_000001.11:g.11802950C>G	ExAC,gnomAD
MTHFR	P42898	p.Asp57Asn	rs755932641	missense variant	-	NC_000001.11:g.11802948C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys58Gln	rs750677509	missense variant	-	NC_000001.11:g.11802945T>G	ExAC,gnomAD
MTHFR	P42898	p.Trp59Cys	rs767789270	missense variant	-	NC_000001.11:g.11802940C>A	ExAC,gnomAD
MTHFR	P42898	p.Trp59Ter	rs786204007	stop gained	-	NC_000001.11:g.11802941C>T	TOPMed,gnomAD
MTHFR	P42898	p.Trp59Ser	rs786204007	missense variant	-	NC_000001.11:g.11802941C>G	TOPMed,gnomAD
MTHFR	P42898	p.Trp59Ser	rs786204007	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802941C>G	UniProt,dbSNP
MTHFR	P42898	p.Trp59Ser	VAR_074113	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11802941C>G	UniProt
MTHFR	P42898	p.Trp59Ser	RCV000167588	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802941C>G	ClinVar
MTHFR	P42898	p.Glu63Lys	rs774531580	missense variant	-	NC_000001.11:g.11802930C>T	ExAC,gnomAD
MTHFR	P42898	p.Phe65Leu	rs1305385953	missense variant	-	NC_000001.11:g.11802924A>G	TOPMed
MTHFR	P42898	p.Pro66Leu	RCV000190392	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802920G>A	ClinVar
MTHFR	P42898	p.Pro66Leu	rs796064512	missense variant	-	NC_000001.11:g.11802920G>A	-
MTHFR	P42898	p.Arg68Gly	RCV000167589	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11802915G>C	ClinVar
MTHFR	P42898	p.Arg68Ter	rs763539350	stop gained	-	NC_000001.11:g.11802915G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg68Gln	rs2066472	missense variant	-	NC_000001.11:g.11802914C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg68Gly	rs763539350	missense variant	-	NC_000001.11:g.11802915G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr69Ala	rs770151367	missense variant	-	NC_000001.11:g.11802912T>C	ExAC,gnomAD
MTHFR	P42898	p.Thr69Ile	rs746177570	missense variant	-	NC_000001.11:g.11802911G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile77Val	rs1347839321	missense variant	-	NC_000001.11:g.11802888T>C	gnomAD
MTHFR	P42898	p.Ser78Leu	rs776969786	missense variant	-	NC_000001.11:g.11802884G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser78Ter	rs776969786	stop gained	-	NC_000001.11:g.11802884G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg79Ser	RCV000625779	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801399C>A	ClinVar
MTHFR	P42898	p.Arg79Ser	rs1553187509	missense variant	-	NC_000001.11:g.11801399C>A	-
MTHFR	P42898	p.Phe80Leu	rs541505625	missense variant	-	NC_000001.11:g.11801396A>C	1000Genomes
MTHFR	P42898	p.Asp81Gly	rs1261482213	missense variant	-	NC_000001.11:g.11801394T>C	gnomAD
MTHFR	P42898	p.Arg82Trp	rs786204009	missense variant	-	NC_000001.11:g.11801392G>A	-
MTHFR	P42898	p.Arg82Trp	rs786204009	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801392G>A	UniProt,dbSNP
MTHFR	P42898	p.Arg82Trp	VAR_074115	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801392G>A	UniProt
MTHFR	P42898	p.Arg82Gln	rs778417385	missense variant	-	NC_000001.11:g.11801391C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg82Trp	RCV000167590	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801392G>A	ClinVar
MTHFR	P42898	p.Met83Thr	rs1426036757	missense variant	-	NC_000001.11:g.11801388A>G	TOPMed
MTHFR	P42898	p.Met83Thr	RCV000692160	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801388A>G	ClinVar
MTHFR	P42898	p.Gly86Val	rs1446205816	missense variant	-	NC_000001.11:g.11801379C>A	gnomAD
MTHFR	P42898	p.Gly87Asp	rs145302631	missense variant	-	NC_000001.11:g.11801376C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu89Val	rs1042792109	missense variant	-	NC_000001.11:g.11801371G>C	TOPMed
MTHFR	P42898	p.Ile91Val	rs761545364	missense variant	-	NC_000001.11:g.11801365T>C	ExAC,gnomAD
MTHFR	P42898	p.Val93Met	rs1239688333	missense variant	-	NC_000001.11:g.11801359C>T	TOPMed
MTHFR	P42898	p.Trp95Cys	rs1338194007	missense variant	-	NC_000001.11:g.11801351C>G	TOPMed
MTHFR	P42898	p.His96Tyr	rs1345151194	missense variant	-	NC_000001.11:g.11801350G>A	gnomAD
MTHFR	P42898	p.Asp100Asn	rs1296179669	missense variant	-	NC_000001.11:g.11801338C>T	gnomAD
MTHFR	P42898	p.Lys105Arg	rs779696019	missense variant	-	NC_000001.11:g.11801322T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser108Thr	rs1304056030	missense variant	-	NC_000001.11:g.11801314A>T	gnomAD
MTHFR	P42898	p.Ser109Phe	rs745779146	missense variant	-	NC_000001.11:g.11801310G>A	ExAC,gnomAD
MTHFR	P42898	p.Met110Ile	rs781158269	missense variant	-	NC_000001.11:g.11801306C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Met110Leu	rs1314255798	missense variant	-	NC_000001.11:g.11801308T>G	TOPMed
MTHFR	P42898	p.Met110Val	rs1314255798	missense variant	-	NC_000001.11:g.11801308T>C	TOPMed
MTHFR	P42898	p.Met111Thr	rs756962297	missense variant	-	NC_000001.11:g.11801304A>G	ExAC,gnomAD
MTHFR	P42898	p.Met111Ile	rs577135269	missense variant	-	NC_000001.11:g.11801303C>G	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Ile112Val	rs1421914910	missense variant	-	NC_000001.11:g.11801302T>C	gnomAD
MTHFR	P42898	p.Ala113Pro	rs147257424	missense variant	-	NC_000001.11:g.11801299C>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala113Ser	rs147257424	missense variant	-	NC_000001.11:g.11801299C>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala113Thr	rs147257424	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801299C>T	UniProt,dbSNP
MTHFR	P42898	p.Ala113Thr	VAR_074116	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801299C>T	UniProt
MTHFR	P42898	p.Ala113Thr	rs147257424	missense variant	-	NC_000001.11:g.11801299C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala113Thr	RCV000167592	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801299C>T	ClinVar
MTHFR	P42898	p.Ser114Gly	rs1199277582	missense variant	-	NC_000001.11:g.11801296T>C	TOPMed,gnomAD
MTHFR	P42898	p.Ala116Thr	rs1056919085	missense variant	-	NC_000001.11:g.11801290C>T	TOPMed
MTHFR	P42898	p.Val117Met	rs1200746244	missense variant	-	NC_000001.11:g.11801287C>T	gnomAD
MTHFR	P42898	p.Val117Ala	rs1163498568	missense variant	-	NC_000001.11:g.11801286A>G	TOPMed
MTHFR	P42898	p.Tyr119Ser	rs1276034428	missense variant	-	NC_000001.11:g.11801280T>G	TOPMed,gnomAD
MTHFR	P42898	p.Tyr119Phe	rs1276034428	missense variant	-	NC_000001.11:g.11801280T>A	TOPMed,gnomAD
MTHFR	P42898	p.Cys120Trp	rs576446829	missense variant	-	NC_000001.11:g.11801276A>C	1000Genomes,TOPMed
MTHFR	P42898	p.Cys120Tyr	rs774066396	missense variant	-	NC_000001.11:g.11801277C>T	ExAC,gnomAD
MTHFR	P42898	p.Glu123Asp	rs1314724398	missense variant	-	NC_000001.11:g.11801267C>G	gnomAD
MTHFR	P42898	p.Thr124Ile	rs768248826	missense variant	-	NC_000001.11:g.11801265G>A	ExAC,gnomAD
MTHFR	P42898	p.Thr124Ser	rs768248826	missense variant	-	NC_000001.11:g.11801265G>C	ExAC,gnomAD
MTHFR	P42898	p.Thr124Ser	RCV000317405	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11801265G>C	ClinVar
MTHFR	P42898	p.Ile125Val	rs762688654	missense variant	-	NC_000001.11:g.11801263T>C	ExAC,gnomAD
MTHFR	P42898	p.His127Tyr	RCV000167593	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801257G>A	ClinVar
MTHFR	P42898	p.His127Tyr	rs769381688	missense variant	-	NC_000001.11:g.11801257G>A	ExAC,gnomAD
MTHFR	P42898	p.His127Tyr	rs769381688	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801257G>A	UniProt,dbSNP
MTHFR	P42898	p.His127Tyr	VAR_074117	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801257G>A	UniProt
MTHFR	P42898	p.Met128Val	rs202095816	missense variant	-	NC_000001.11:g.11801254T>C	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr129Asn	VAR_074118	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Cys130Arg	RCV000167594	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801248A>G	ClinVar
MTHFR	P42898	p.Cys130Arg	rs786204012	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801248A>G	UniProt,dbSNP
MTHFR	P42898	p.Cys130Arg	VAR_074119	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801248A>G	UniProt
MTHFR	P42898	p.Cys130Arg	rs786204012	missense variant	-	NC_000001.11:g.11801248A>G	TOPMed
MTHFR	P42898	p.Arg132Gly	rs1423805621	missense variant	-	NC_000001.11:g.11801242G>C	TOPMed,gnomAD
MTHFR	P42898	p.Arg132His	rs149514973	missense variant	-	NC_000001.11:g.11801241C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg132Cys	rs1423805621	missense variant	-	NC_000001.11:g.11801242G>A	TOPMed,gnomAD
MTHFR	P42898	p.Arg134His	rs370713424	missense variant	-	NC_000001.11:g.11801235C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg134Leu	rs370713424	missense variant	-	NC_000001.11:g.11801235C>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg134Cys	rs45550133	missense variant	-	NC_000001.11:g.11801236G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu137Gly	rs778983789	missense variant	-	NC_000001.11:g.11801226T>C	ExAC,gnomAD
MTHFR	P42898	p.Thr139Met	rs1057519360	missense variant	-	NC_000001.11:g.11801220G>A	TOPMed,gnomAD
MTHFR	P42898	p.Thr139Met	RCV000416816	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801220G>A	ClinVar
MTHFR	P42898	p.Leu142Pro	rs761230732	missense variant	-	NC_000001.11:g.11801211A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu142Arg	rs761230732	missense variant	-	NC_000001.11:g.11801211A>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys144Glu	rs965403404	missense variant	-	NC_000001.11:g.11801206T>C	TOPMed,gnomAD
MTHFR	P42898	p.Lys146Asn	rs559073730	missense variant	-	NC_000001.11:g.11801198C>G	TOPMed
MTHFR	P42898	p.Gln147Pro	RCV000167595	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11801196T>G	ClinVar
MTHFR	P42898	p.Gln147Pro	rs786204013	missense variant	-	NC_000001.11:g.11801196T>G	-
MTHFR	P42898	p.Gln147Pro	rs786204013	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801196T>G	UniProt,dbSNP
MTHFR	P42898	p.Gln147Pro	VAR_074120	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801196T>G	UniProt
MTHFR	P42898	p.Gly149Asp	rs1018189670	missense variant	-	NC_000001.11:g.11801190C>T	TOPMed
MTHFR	P42898	p.Gly149Val	VAR_074121	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Ile153Met	rs767890671	missense variant	-	NC_000001.11:g.11801177G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile153Met	rs767890671	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801177G>C	UniProt,dbSNP
MTHFR	P42898	p.Ile153Met	VAR_074122	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801177G>C	UniProt
MTHFR	P42898	p.Ile153Phe	rs1006833485	missense variant	-	NC_000001.11:g.11801179T>A	TOPMed
MTHFR	P42898	p.Met154Thr	rs762719063	missense variant	-	NC_000001.11:g.11801175A>G	ExAC,gnomAD
MTHFR	P42898	p.Ala155Val	rs775245791	missense variant	-	NC_000001.11:g.11801172G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg157Gln	RCV000003696	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11801166C>T	ClinVar
MTHFR	P42898	p.Arg157Gln	rs121434295	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801166C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg157Gln	VAR_004320	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11801166C>T	UniProt
MTHFR	P42898	p.Arg157Gln	rs121434295	missense variant	-	NC_000001.11:g.11801166C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg157Trp	rs776195746	missense variant	-	NC_000001.11:g.11801167G>A	ExAC,gnomAD
MTHFR	P42898	p.Gly158Glu	rs772932189	missense variant	-	NC_000001.11:g.11801163C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp159Asn	rs138524217	missense variant	-	NC_000001.11:g.11801161C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile161Val	rs1300017706	missense variant	-	NC_000001.11:g.11800317T>C	TOPMed
MTHFR	P42898	p.Asp163Tyr	rs1460500942	missense variant	-	NC_000001.11:g.11800311C>A	TOPMed
MTHFR	P42898	p.Asp163Gly	rs1373074715	missense variant	-	NC_000001.11:g.11800310T>C	TOPMed
MTHFR	P42898	p.Trp165Ter	rs774118546	stop gained	-	NC_000001.11:g.11800303C>T	ExAC,gnomAD
MTHFR	P42898	p.Glu169Asp	rs768932563	missense variant	-	NC_000001.11:g.11800291C>G	ExAC,gnomAD
MTHFR	P42898	p.Gly170Arg	rs1164755333	missense variant	-	NC_000001.11:g.11800290C>G	TOPMed
MTHFR	P42898	p.Gly171Ala	rs1341453283	missense variant	-	NC_000001.11:g.11800286C>G	gnomAD
MTHFR	P42898	p.Phe172Ser	rs1398686840	missense variant	-	NC_000001.11:g.11800283A>G	gnomAD
MTHFR	P42898	p.Asn173Ser	rs1334889051	missense variant	-	NC_000001.11:g.11800280T>C	gnomAD
MTHFR	P42898	p.Ala175Thr	rs1182635980	missense variant	-	NC_000001.11:g.11800275C>T	TOPMed
MTHFR	P42898	p.Asp177His	rs1172158928	missense variant	-	NC_000001.11:g.11800269C>G	gnomAD
MTHFR	P42898	p.Val179Leu	rs1424071829	missense variant	-	NC_000001.11:g.11800263C>A	gnomAD
MTHFR	P42898	p.Val179Met	rs1424071829	missense variant	-	NC_000001.11:g.11800263C>T	gnomAD
MTHFR	P42898	p.Ile182Val	rs781742574	missense variant	-	NC_000001.11:g.11800254T>C	ExAC,gnomAD
MTHFR	P42898	p.Arg183Ter	rs121434294	stop gained	-	NC_000001.11:g.11800251G>A	-
MTHFR	P42898	p.Arg183Ter	RCV000003695	nonsense	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11800251G>A	ClinVar
MTHFR	P42898	p.Arg183Gln	rs574132670	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11800250C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg183Gln	VAR_074124	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11800250C>T	UniProt
MTHFR	P42898	p.Arg183Gln	rs574132670	missense variant	-	NC_000001.11:g.11800250C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg183Gln	RCV000167596	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11800250C>T	ClinVar
MTHFR	P42898	p.Ser184Ile	rs752039471	missense variant	-	NC_000001.11:g.11800247C>A	ExAC,gnomAD
MTHFR	P42898	p.Phe186Ser	rs764524250	missense variant	-	NC_000001.11:g.11800241A>G	ExAC,gnomAD
MTHFR	P42898	p.Asp188Asn	rs1202625373	missense variant	-	NC_000001.11:g.11800236C>T	gnomAD
MTHFR	P42898	p.Tyr189Ser	rs555964132	missense variant	-	NC_000001.11:g.11800232T>G	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Ile192Thr	rs765834557	missense variant	-	NC_000001.11:g.11800223A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile192Val	rs1258318951	missense variant	-	NC_000001.11:g.11800224T>C	gnomAD
MTHFR	P42898	p.Val194Met	rs1285236808	missense variant	-	NC_000001.11:g.11800218C>T	gnomAD
MTHFR	P42898	p.Val194Leu	rs1285236808	missense variant	-	NC_000001.11:g.11800218C>A	gnomAD
MTHFR	P42898	p.Ala195Gly	rs760161369	missense variant	-	NC_000001.11:g.11800214G>C	ExAC,gnomAD
MTHFR	P42898	p.Ala195Val	rs760161369	missense variant	-	NC_000001.11:g.11800214G>A	ExAC,gnomAD
MTHFR	P42898	p.Gly196Asp	RCV000167597	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796399C>T	ClinVar
MTHFR	P42898	p.Gly196Asp	rs786204014	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796399C>T	UniProt,dbSNP
MTHFR	P42898	p.Gly196Asp	VAR_074126	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796399C>T	UniProt
MTHFR	P42898	p.Gly196Asp	rs786204014	missense variant	-	NC_000001.11:g.11796399C>T	-
MTHFR	P42898	p.Tyr197Asp	rs776901659	missense variant	-	NC_000001.11:g.11796397A>C	ExAC,gnomAD
MTHFR	P42898	p.Tyr197Phe	rs771090648	missense variant	-	NC_000001.11:g.11796396T>A	ExAC
MTHFR	P42898	p.Pro198Ala	rs1291640722	missense variant	-	NC_000001.11:g.11796394G>C	gnomAD
MTHFR	P42898	p.Lys199Gln	rs747554082	missense variant	-	NC_000001.11:g.11796391T>G	ExAC
MTHFR	P42898	p.Gly200Ser	rs778353903	missense variant	-	NC_000001.11:g.11796388C>T	ExAC
MTHFR	P42898	p.Pro202Thr	rs1057519361	missense variant	-	NC_000001.11:g.11796382G>T	-
MTHFR	P42898	p.Pro202Thr	RCV000416935	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796382G>T	ClinVar
MTHFR	P42898	p.Pro202Arg	rs1188522801	missense variant	-	NC_000001.11:g.11796381G>C	TOPMed
MTHFR	P42898	p.Glu203Lys	rs1018203291	missense variant	-	NC_000001.11:g.11796379C>T	TOPMed,gnomAD
MTHFR	P42898	p.Gly205Glu	rs1391033297	missense variant	-	NC_000001.11:g.11796372C>T	gnomAD
MTHFR	P42898	p.Gly205Arg	rs748601308	missense variant	-	NC_000001.11:g.11796373C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser206Asn	rs1293871926	missense variant	-	NC_000001.11:g.11796369C>T	gnomAD
MTHFR	P42898	p.Ser206Arg	rs755829023	missense variant	-	NC_000001.11:g.11796368G>T	ExAC,gnomAD
MTHFR	P42898	p.Glu208Lys	rs1363516407	missense variant	-	NC_000001.11:g.11796364C>T	gnomAD
MTHFR	P42898	p.Asp210His	rs1302392264	missense variant	-	NC_000001.11:g.11796358C>G	gnomAD
MTHFR	P42898	p.His213Arg	rs780701935	missense variant	-	NC_000001.11:g.11796348T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys215del	VAR_074127	inframe_deletion	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Val218Ala	rs1418131798	missense variant	-	NC_000001.11:g.11796333A>G	gnomAD
MTHFR	P42898	p.Val218Leu	VAR_074128	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Ser219Cys	rs751512280	missense variant	-	NC_000001.11:g.11796330G>C	ExAC,gnomAD
MTHFR	P42898	p.Ala220Val	rs144920629	missense variant	-	NC_000001.11:g.11796327G>A	ESP,ExAC,gnomAD
MTHFR	P42898	p.Gly221Ter	RCV000416691	frameshift	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796326del	ClinVar
MTHFR	P42898	p.Gly221Arg	rs45438591	missense variant	-	NC_000001.11:g.11796325C>T	ExAC,gnomAD
MTHFR	P42898	p.Ala222Val	rs1801133	missense variant	-	NC_000001.11:g.11796321G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala222Val	RCV000428048	missense variant	-	NC_000001.11:g.11796321G>A	ClinVar
MTHFR	P42898	p.Asp223Asn	rs150847674	missense variant	-	NC_000001.11:g.11796319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp223Asn	RCV000595772	missense variant	-	NC_000001.11:g.11796319C>T	ClinVar
MTHFR	P42898	p.Ile225Leu	rs200100285	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796313T>G	UniProt,dbSNP
MTHFR	P42898	p.Ile225Leu	VAR_074129	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796313T>G	UniProt
MTHFR	P42898	p.Ile225Leu	rs200100285	missense variant	-	NC_000001.11:g.11796313T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile225Val	RCV000361645	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11796313T>C	ClinVar
MTHFR	P42898	p.Ile225Leu	RCV000167599	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796313T>G	ClinVar
MTHFR	P42898	p.Ile225Val	rs200100285	missense variant	-	NC_000001.11:g.11796313T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile226Val	rs773410203	missense variant	-	NC_000001.11:g.11796310T>C	ExAC,gnomAD
MTHFR	P42898	p.Ile226Thr	rs1217691063	missense variant	-	NC_000001.11:g.11796309A>G	gnomAD
MTHFR	P42898	p.Ile226del	VAR_074130	inframe_deletion	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Thr227Met	rs748571395	missense variant	-	NC_000001.11:g.11796306G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu229Pro	rs1362436529	missense variant	-	NC_000001.11:g.11796300A>G	gnomAD
MTHFR	P42898	p.Asp234Asn	rs45589033	missense variant	-	NC_000001.11:g.11796286C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp234Asn	RCV000642248	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796286C>T	ClinVar
MTHFR	P42898	p.Thr235Ile	rs780767010	missense variant	-	NC_000001.11:g.11796282G>A	ExAC,gnomAD
MTHFR	P42898	p.Thr235Ala	rs1177716874	missense variant	-	NC_000001.11:g.11796283T>C	gnomAD
MTHFR	P42898	p.Phe236Leu	rs34279942	missense variant	-	NC_000001.11:g.11796278G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Phe237Leu	rs758413827	missense variant	-	NC_000001.11:g.11796275G>C	ExAC,gnomAD
MTHFR	P42898	p.Phe237Ser	rs1194897557	missense variant	-	NC_000001.11:g.11796276A>G	TOPMed,gnomAD
MTHFR	P42898	p.Arg238His	rs138760604	missense variant	-	NC_000001.11:g.11796273C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg238Cys	rs377571071	missense variant	-	NC_000001.11:g.11796274G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Phe239Leu	rs190090719	missense variant	-	NC_000001.11:g.11796271A>G	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Ala242Ser	rs754122249	missense variant	-	NC_000001.11:g.11796262C>A	ExAC,gnomAD
MTHFR	P42898	p.Cys243Gly	rs760971789	missense variant	-	NC_000001.11:g.11796259A>C	ExAC,gnomAD
MTHFR	P42898	p.Met246Lys	rs140241283	missense variant	-	NC_000001.11:g.11796249A>T	ESP,ExAC,gnomAD
MTHFR	P42898	p.Met246Thr	rs140241283	missense variant	-	NC_000001.11:g.11796249A>G	ESP,ExAC,gnomAD
MTHFR	P42898	p.Ile248Val	rs762403278	missense variant	-	NC_000001.11:g.11796244T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile248Leu	rs762403278	missense variant	-	NC_000001.11:g.11796244T>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro251Ser	rs774681018	missense variant	-	NC_000001.11:g.11796235G>A	ExAC,gnomAD
MTHFR	P42898	p.Pro251Leu	VAR_004322	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Val253Ile	rs200056619	missense variant	-	NC_000001.11:g.11796229C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Val253Phe	VAR_074131	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Pro254Ser	rs786204017	missense variant	-	NC_000001.11:g.11796226G>A	gnomAD
MTHFR	P42898	p.Pro254Ser	rs786204017	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796226G>A	UniProt,dbSNP
MTHFR	P42898	p.Pro254Ser	VAR_074132	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796226G>A	UniProt
MTHFR	P42898	p.Pro254Ser	RCV000167601	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796226G>A	ClinVar
MTHFR	P42898	p.Pro254Ala	rs786204017	missense variant	-	NC_000001.11:g.11796226G>C	gnomAD
MTHFR	P42898	p.Gly255Val	rs786204018	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796222C>A	UniProt,dbSNP
MTHFR	P42898	p.Gly255Val	VAR_074133	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796222C>A	UniProt
MTHFR	P42898	p.Gly255Val	rs786204018	missense variant	-	NC_000001.11:g.11796222C>A	-
MTHFR	P42898	p.Gly255Val	RCV000167602	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796222C>A	ClinVar
MTHFR	P42898	p.Gly255Arg	rs775829502	missense variant	-	NC_000001.11:g.11796223C>T	ExAC,gnomAD
MTHFR	P42898	p.Ile256Asn	rs373398993	missense variant	-	NC_000001.11:g.11796219A>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile256Asn	rs373398993	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796219A>T	UniProt,dbSNP
MTHFR	P42898	p.Ile256Asn	VAR_074134	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796219A>T	UniProt
MTHFR	P42898	p.Ile256Asn	RCV000167603	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796219A>T	ClinVar
MTHFR	P42898	p.Phe257Val	rs786204019	missense variant	-	NC_000001.11:g.11796217A>C	TOPMed
MTHFR	P42898	p.Phe257Val	rs786204019	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796217A>C	UniProt,dbSNP
MTHFR	P42898	p.Phe257Val	VAR_074135	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11796217A>C	UniProt
MTHFR	P42898	p.Phe257Val	RCV000167604	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11796217A>C	ClinVar
MTHFR	P42898	p.Pro258Arg	rs1553186124	missense variant	-	NC_000001.11:g.11796213G>C	-
MTHFR	P42898	p.Pro258Arg	RCV000508460	missense variant	-	NC_000001.11:g.11796213G>C	ClinVar
MTHFR	P42898	p.Ile259Met	rs1317859869	missense variant	-	NC_000001.11:g.11796209G>C	TOPMed
MTHFR	P42898	p.Gly261Val	rs747665983	missense variant	-	NC_000001.11:g.11795347C>A	ExAC,gnomAD
MTHFR	P42898	p.Tyr262Cys	rs1180379572	missense variant	-	NC_000001.11:g.11795344T>C	TOPMed
MTHFR	P42898	p.His263Gln	rs774637461	missense variant	-	NC_000001.11:g.11795340G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.His263Pro	rs142612062	missense variant	-	NC_000001.11:g.11795341T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.His263Pro	RCV000320382	missense variant	-	NC_000001.11:g.11795341T>G	ClinVar
MTHFR	P42898	p.Arg266Trp	rs1333673915	missense variant	-	NC_000001.11:g.11795333G>A	TOPMed,gnomAD
MTHFR	P42898	p.Arg266Gln	rs571238208	missense variant	-	NC_000001.11:g.11795332C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gln267Lys	rs1001575872	missense variant	-	NC_000001.11:g.11795330G>T	TOPMed
MTHFR	P42898	p.Leu268Phe	rs559501574	missense variant	-	NC_000001.11:g.11795327G>A	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Val269Leu	rs1393335339	missense variant	-	NC_000001.11:g.11795324C>G	TOPMed,gnomAD
MTHFR	P42898	p.Val269Met	rs1393335339	missense variant	-	NC_000001.11:g.11795324C>T	TOPMed,gnomAD
MTHFR	P42898	p.Leu271Val	rs750661990	missense variant	-	NC_000001.11:g.11795318G>C	ExAC,gnomAD
MTHFR	P42898	p.Ser272Phe	RCV000591467	missense variant	-	NC_000001.11:g.11795314G>A	ClinVar
MTHFR	P42898	p.Ser272Phe	rs1160573823	missense variant	-	NC_000001.11:g.11795314G>A	gnomAD
MTHFR	P42898	p.Glu275Lys	rs1299393149	missense variant	-	NC_000001.11:g.11795306C>T	TOPMed
MTHFR	P42898	p.Gln278Ter	rs1443866504	stop gained	-	NC_000001.11:g.11795297G>A	TOPMed
MTHFR	P42898	p.Glu279Ter	rs147750177	stop gained	-	NC_000001.11:g.11795294C>A	ESP,ExAC,TOPMed
MTHFR	P42898	p.Ile280Met	rs965263063	missense variant	-	NC_000001.11:g.11795289G>C	TOPMed,gnomAD
MTHFR	P42898	p.Val283Met	rs547583387	missense variant	-	NC_000001.11:g.11795282C>T	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Ile284Met	rs1163792757	missense variant	-	NC_000001.11:g.11795277A>C	TOPMed
MTHFR	P42898	p.Ile284Thr	rs763476837	missense variant	-	NC_000001.11:g.11795278A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu285Lys	rs372258648	missense variant	-	NC_000001.11:g.11795276C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu285Gln	rs372258648	missense variant	-	NC_000001.11:g.11795276C>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu285Lys	RCV000312218	missense variant	-	NC_000001.11:g.11795276C>T	ClinVar
MTHFR	P42898	p.Pro286Thr	rs1286086809	missense variant	-	NC_000001.11:g.11795273G>T	gnomAD
MTHFR	P42898	p.Ile287Val	rs1224922440	missense variant	-	NC_000001.11:g.11795270T>C	gnomAD
MTHFR	P42898	p.Asp289Glu	rs139786244	missense variant	-	NC_000001.11:g.11795262G>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp289Glu	RCV000357793	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11795262G>T	ClinVar
MTHFR	P42898	p.Asn290Asp	rs368735885	missense variant	-	NC_000001.11:g.11795261T>C	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn290Lys	rs141769179	missense variant	-	NC_000001.11:g.11795259G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp291Asn	rs771684838	missense variant	-	NC_000001.11:g.11795258C>T	ExAC,gnomAD
MTHFR	P42898	p.Ala292Val	rs774051572	missense variant	-	NC_000001.11:g.11795254G>A	ExAC,gnomAD
MTHFR	P42898	p.Ile294Thr	rs749267753	missense variant	-	NC_000001.11:g.11795248A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg295Cys	rs1398982560	missense variant	-	NC_000001.11:g.11795246G>A	gnomAD
MTHFR	P42898	p.Asn296Ile	rs141237767	missense variant	-	NC_000001.11:g.11795242T>A	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Tyr297His	rs1479160387	missense variant	-	NC_000001.11:g.11795240A>G	gnomAD
MTHFR	P42898	p.Tyr297Ter	rs367992906	stop gained	-	NC_000001.11:g.11795238A>T	ESP,ExAC,gnomAD
MTHFR	P42898	p.Gly298Ser	rs745716822	missense variant	-	NC_000001.11:g.11795237C>T	ExAC,gnomAD
MTHFR	P42898	p.Glu300Lys	rs1052666226	missense variant	-	NC_000001.11:g.11795231C>T	TOPMed
MTHFR	P42898	p.Ala302Val	rs747207640	missense variant	-	NC_000001.11:g.11795224G>A	ExAC,gnomAD
MTHFR	P42898	p.Val303Met	rs143466425	missense variant	-	NC_000001.11:g.11795222C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala311Asp	rs765794603	missense variant	-	NC_000001.11:g.11795197G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly313Ala	rs200890679	missense variant	-	NC_000001.11:g.11795191C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro316Leu	rs766741086	missense variant	-	NC_000001.11:g.11795182G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu318Val	rs1429249641	missense variant	-	NC_000001.11:g.11795177G>C	TOPMed,gnomAD
MTHFR	P42898	p.Leu318His	rs761392430	missense variant	-	NC_000001.11:g.11795176A>T	ExAC,gnomAD
MTHFR	P42898	p.Leu318Phe	rs1429249641	missense variant	-	NC_000001.11:g.11795177G>A	TOPMed,gnomAD
MTHFR	P42898	p.His319Tyr	rs774104819	missense variant	-	NC_000001.11:g.11795174G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu323Pro	RCV000003707	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11795161A>G	ClinVar
MTHFR	P42898	p.Leu323Pro	rs121434297	missense variant	-	NC_000001.11:g.11795161A>G	ExAC,gnomAD
MTHFR	P42898	p.Leu323Pro	rs121434297	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795161A>G	UniProt,dbSNP
MTHFR	P42898	p.Leu323Pro	VAR_009531	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795161A>G	UniProt
MTHFR	P42898	p.Asn324Ser	rs267606887	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795158T>C	UniProt,dbSNP
MTHFR	P42898	p.Asn324Ser	VAR_009532	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795158T>C	UniProt
MTHFR	P42898	p.Asn324Ser	rs267606887	missense variant	-	NC_000001.11:g.11795158T>C	-
MTHFR	P42898	p.Asn324Ser	RCV000003700	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11795158T>C	ClinVar
MTHFR	P42898	p.Arg325His	rs56182143	missense variant	-	NC_000001.11:g.11795155C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg325Cys	rs371085894	missense variant	-	NC_000001.11:g.11795156G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg325Cys	rs371085894	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795156G>A	UniProt,dbSNP
MTHFR	P42898	p.Arg325Cys	VAR_004323	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795156G>A	UniProt
MTHFR	P42898	p.Glu326Ter	rs777918196	stop gained	-	NC_000001.11:g.11795153C>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu326Lys	rs777918196	missense variant	-	NC_000001.11:g.11795153C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Val332Leu	rs1202644044	missense variant	-	NC_000001.11:g.11795135C>A	gnomAD
MTHFR	P42898	p.Arg335His	rs543016186	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795125C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg335His	VAR_074136	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795125C>T	UniProt
MTHFR	P42898	p.Arg335His	rs543016186	missense variant	-	NC_000001.11:g.11795125C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg335Pro	rs543016186	missense variant	-	NC_000001.11:g.11795125C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg335Cys	rs748289202	missense variant	-	NC_000001.11:g.11795126G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg335His	RCV000167606	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11795125C>T	ClinVar
MTHFR	P42898	p.Gly337Arg	rs1214062050	missense variant	-	NC_000001.11:g.11795120C>T	TOPMed
MTHFR	P42898	p.Gly337Glu	rs1285327482	missense variant	-	NC_000001.11:g.11795119C>T	TOPMed,gnomAD
MTHFR	P42898	p.Met338Ile	rs766683363	missense variant	-	NC_000001.11:g.11795115C>T	ExAC,gnomAD
MTHFR	P42898	p.Met338Leu	rs959908870	missense variant	-	NC_000001.11:g.11795117T>G	TOPMed
MTHFR	P42898	p.Met338Thr	rs368321176	missense variant	-	NC_000001.11:g.11795116A>G	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Met338Thr	rs368321176	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795116A>G	UniProt,dbSNP
MTHFR	P42898	p.Met338Thr	VAR_074137	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795116A>G	UniProt
MTHFR	P42898	p.Trp339Ter	rs1400753058	stop gained	-	NC_000001.11:g.11795113C>T	gnomAD
MTHFR	P42898	p.Trp339Ter	rs375607927	stop gained	-	NC_000001.11:g.11795112C>T	ESP,ExAC,gnomAD
MTHFR	P42898	p.Trp339Gly	RCV000003701	missense variant	Homocystinuria due to MTHFR deficiency	NC_000001.11:g.11795114A>C	ClinVar
MTHFR	P42898	p.Trp339Gly	rs267606886	missense variant	-	NC_000001.11:g.11795114A>C	-
MTHFR	P42898	p.Trp339Gly	rs267606886	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795114A>C	UniProt,dbSNP
MTHFR	P42898	p.Trp339Gly	VAR_009533	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11795114A>C	UniProt
MTHFR	P42898	p.Thr340Ser	rs751268792	missense variant	-	NC_000001.11:g.11795110G>C	ExAC,gnomAD
MTHFR	P42898	p.Asp342Glu	rs763896620	missense variant	-	NC_000001.11:g.11795103G>T	ExAC,gnomAD
MTHFR	P42898	p.Pro343Ala	rs762663885	missense variant	-	NC_000001.11:g.11795102G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro343Ser	rs762663885	missense variant	-	NC_000001.11:g.11795102G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro343Leu	rs775190420	missense variant	-	NC_000001.11:g.11795101G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg345Cys	rs759031330	missense variant	-	NC_000001.11:g.11794862G>A	ExAC
MTHFR	P42898	p.Arg345His	rs753278299	missense variant	-	NC_000001.11:g.11794861C>T	ExAC,gnomAD
MTHFR	P42898	p.Arg345His	RCV000179910	missense variant	-	NC_000001.11:g.11794861C>T	ClinVar
MTHFR	P42898	p.Arg345Cys	RCV000416797	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794862G>A	ClinVar
MTHFR	P42898	p.Pro346Arg	rs766410193	missense variant	-	NC_000001.11:g.11794858G>C	ExAC,gnomAD
MTHFR	P42898	p.Pro348Ser	rs786204021	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794853G>A	UniProt,dbSNP
MTHFR	P42898	p.Pro348Ser	VAR_074138	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794853G>A	UniProt
MTHFR	P42898	p.Pro348Ser	rs786204021	missense variant	-	NC_000001.11:g.11794853G>A	-
MTHFR	P42898	p.Pro348Ser	RCV000167607	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794853G>A	ClinVar
MTHFR	P42898	p.Ala350Thr	rs1333598161	missense variant	-	NC_000001.11:g.11794847C>T	TOPMed
MTHFR	P42898	p.Ala350Asp	rs760570032	missense variant	-	NC_000001.11:g.11794846G>T	ExAC,gnomAD
MTHFR	P42898	p.Ala350Gly	rs760570032	missense variant	-	NC_000001.11:g.11794846G>C	ExAC,gnomAD
MTHFR	P42898	p.Ser352Ile	rs1048531030	missense variant	-	NC_000001.11:g.11794840C>A	TOPMed,gnomAD
MTHFR	P42898	p.Ser352Asn	rs1048531030	missense variant	-	NC_000001.11:g.11794840C>T	TOPMed,gnomAD
MTHFR	P42898	p.Ala353Thr	rs771802611	missense variant	-	NC_000001.11:g.11794838C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.His354Tyr	RCV000167608	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794835G>A	ClinVar
MTHFR	P42898	p.His354Tyr	rs786204022	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794835G>A	UniProt,dbSNP
MTHFR	P42898	p.His354Tyr	VAR_074139	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794835G>A	UniProt
MTHFR	P42898	p.His354Tyr	rs786204022	missense variant	-	NC_000001.11:g.11794835G>A	gnomAD
MTHFR	P42898	p.His354Gln	rs776606131	missense variant	-	NC_000001.11:g.11794833G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro355Leu	RCV000179909	missense variant	-	NC_000001.11:g.11794831G>A	ClinVar
MTHFR	P42898	p.Pro355Thr	rs768630799	missense variant	-	NC_000001.11:g.11794832G>T	ExAC,gnomAD
MTHFR	P42898	p.Pro355Ser	rs768630799	missense variant	-	NC_000001.11:g.11794832G>A	ExAC,gnomAD
MTHFR	P42898	p.Pro355Leu	rs794727869	missense variant	-	NC_000001.11:g.11794831G>A	-
MTHFR	P42898	p.Lys356Met	rs1165346530	missense variant	-	NC_000001.11:g.11794828T>A	TOPMed
MTHFR	P42898	p.Arg357Cys	rs779993607	missense variant	-	NC_000001.11:g.11794826G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg357His	rs977038830	missense variant	-	NC_000001.11:g.11794825C>T	TOPMed
MTHFR	P42898	p.Arg358Pro	rs768873896	missense variant	-	NC_000001.11:g.11794822C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg358Ter	rs377443637	stop gained	-	NC_000001.11:g.11794823G>A	ESP,ExAC,gnomAD
MTHFR	P42898	p.Arg358Ter	RCV000538018	nonsense	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794823G>A	ClinVar
MTHFR	P42898	p.Arg358Gln	rs768873896	missense variant	-	NC_000001.11:g.11794822C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu360Lys	rs757627437	missense variant	-	NC_000001.11:g.11794817C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp361Tyr	rs752303359	missense variant	-	NC_000001.11:g.11794814C>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp361His	rs752303359	missense variant	-	NC_000001.11:g.11794814C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg363His	rs786204023	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794807C>T	UniProt,dbSNP
MTHFR	P42898	p.Arg363His	VAR_074140	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794807C>T	UniProt
MTHFR	P42898	p.Arg363His	rs786204023	missense variant	-	NC_000001.11:g.11794807C>T	gnomAD
MTHFR	P42898	p.Arg363Cys	rs778682219	missense variant	-	NC_000001.11:g.11794808G>A	ExAC,gnomAD
MTHFR	P42898	p.Arg363His	RCV000167609	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794807C>T	ClinVar
MTHFR	P42898	p.Lys372Glu	rs786204024	missense variant	-	NC_000001.11:g.11794781T>C	-
MTHFR	P42898	p.Lys372Glu	rs786204024	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794781T>C	UniProt,dbSNP
MTHFR	P42898	p.Lys372Glu	VAR_074141	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794781T>C	UniProt
MTHFR	P42898	p.Lys372Glu	RCV000167610	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794781T>C	ClinVar
MTHFR	P42898	p.Ser373Thr	rs753424131	missense variant	-	NC_000001.11:g.11794777C>G	ExAC,gnomAD
MTHFR	P42898	p.Tyr374Ter	rs1343417985	stop gained	-	NC_000001.11:g.11794773G>C	gnomAD
MTHFR	P42898	p.Tyr376Cys	rs765787903	missense variant	-	NC_000001.11:g.11794768T>C	ExAC,gnomAD
MTHFR	P42898	p.Arg377His	rs750323424	missense variant	-	NC_000001.11:g.11794765C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg377Cys	rs121434296	missense variant	-	NC_000001.11:g.11794766G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg377Cys	rs121434296	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794766G>A	UniProt,dbSNP
MTHFR	P42898	p.Arg377Cys	VAR_009534	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794766G>A	UniProt
MTHFR	P42898	p.Arg377Cys	RCV000756357	missense variant	-	NC_000001.11:g.11794766G>A	ClinVar
MTHFR	P42898	p.Gln379Glu	rs1452582304	missense variant	-	NC_000001.11:g.11794760G>C	gnomAD
MTHFR	P42898	p.Trp381Arg	rs1406297300	missense variant	-	NC_000001.11:g.11794754A>G	gnomAD
MTHFR	P42898	p.Gly387Asp	rs1430872491	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794735C>T	UniProt,dbSNP
MTHFR	P42898	p.Gly387Asp	VAR_009535	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11794735C>T	UniProt
MTHFR	P42898	p.Gly387Asp	rs1430872491	missense variant	-	NC_000001.11:g.11794735C>T	TOPMed,gnomAD
MTHFR	P42898	p.Gly387Ser	rs370007225	missense variant	-	NC_000001.11:g.11794736C>T	ESP,ExAC,gnomAD
MTHFR	P42898	p.Arg388Cys	RCV000596599	missense variant	-	NC_000001.11:g.11794733G>A	ClinVar
MTHFR	P42898	p.Arg388Cys	rs200138092	missense variant	-	NC_000001.11:g.11794733G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg388Cys	RCV000795662	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794733G>A	ClinVar
MTHFR	P42898	p.Arg388His	rs769953411	missense variant	-	NC_000001.11:g.11794732C>T	ExAC,gnomAD
MTHFR	P42898	p.Arg388His	RCV000661921	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794732C>T	ClinVar
MTHFR	P42898	p.Gly390Val	rs759745583	missense variant	-	NC_000001.11:g.11794536C>A	ExAC,gnomAD
MTHFR	P42898	p.Ser392Phe	rs776842392	missense variant	-	NC_000001.11:g.11794530G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro395Ser	rs1298093435	missense variant	-	NC_000001.11:g.11794522G>A	gnomAD
MTHFR	P42898	p.Glu399Asp	rs1367495674	missense variant	-	NC_000001.11:g.11794508C>A	TOPMed,gnomAD
MTHFR	P42898	p.Asp402Glu	rs747447307	missense variant	-	NC_000001.11:g.11794499G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp402Asn	rs1161806284	missense variant	-	NC_000001.11:g.11794501C>T	gnomAD
MTHFR	P42898	p.Tyr404Ter	rs1402179954	stop gained	-	NC_000001.11:g.11794493G>T	TOPMed
MTHFR	P42898	p.Leu405Phe	rs773652460	missense variant	-	NC_000001.11:g.11794492G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser412Cys	rs779627394	missense variant	-	NC_000001.11:g.11794470G>C	ExAC
MTHFR	P42898	p.Ser412Tyr	rs779627394	missense variant	-	NC_000001.11:g.11794470G>T	ExAC
MTHFR	P42898	p.Pro413His	rs1248218813	missense variant	-	NC_000001.11:g.11794467G>T	gnomAD
MTHFR	P42898	p.Glu416Gly	rs1204340996	missense variant	-	NC_000001.11:g.11794458T>C	gnomAD
MTHFR	P42898	p.Met420Ile	rs1490503885	missense variant	-	NC_000001.11:g.11794445C>T	gnomAD
MTHFR	P42898	p.Trp421Leu	rs200137991	missense variant	-	NC_000001.11:g.11794443C>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Trp421Ser	rs200137991	missense variant	-	NC_000001.11:g.11794443C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Trp421Ser	RCV000167612	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794443C>G	ClinVar
MTHFR	P42898	p.Trp421Cys	rs200688214	missense variant	-	NC_000001.11:g.11794442C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly422Arg	rs45571736	missense variant	-	NC_000001.11:g.11794441C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly422Arg	rs45571736	missense variant	-	NC_000001.11:g.11794441C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu423Lys	rs757268352	missense variant	-	NC_000001.11:g.11794438C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu423Ter	RCV000721980	frameshift	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794443dup	ClinVar
MTHFR	P42898	p.Glu424Gln	rs1476689323	missense variant	-	NC_000001.11:g.11794435C>G	TOPMed
MTHFR	P42898	p.Leu425Val	rs369897291	missense variant	-	NC_000001.11:g.11794432G>C	ESP,ExAC,gnomAD
MTHFR	P42898	p.Thr426Ile	rs763953323	missense variant	-	NC_000001.11:g.11794428G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu429Ala	rs1801131	missense variant	-	NC_000001.11:g.11794419T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu429Val	rs1801131	missense variant	-	NC_000001.11:g.11794419T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu429Gly	rs1801131	missense variant	-	NC_000001.11:g.11794419T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu429Ala	RCV000144922	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000001.11:g.11794419T>G	ClinVar
MTHFR	P42898	p.Val434Leu	rs759796920	missense variant	-	NC_000001.11:g.11794405C>G	ExAC,gnomAD
MTHFR	P42898	p.Phe435Ser	rs754015864	missense variant	-	NC_000001.11:g.11794401A>G	ExAC,gnomAD
MTHFR	P42898	p.Val436Ile	rs1220885178	missense variant	-	NC_000001.11:g.11794399C>T	TOPMed
MTHFR	P42898	p.Leu437His	rs1181242383	missense variant	-	NC_000001.11:g.11794395A>T	gnomAD
MTHFR	P42898	p.Leu439Pro	rs545086633	missense variant	-	NC_000001.11:g.11794389A>G	1000Genomes,TOPMed
MTHFR	P42898	p.Ser440Leu	rs754554624	missense variant	-	NC_000001.11:g.11794386G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser440Trp	rs754554624	missense variant	-	NC_000001.11:g.11794386G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn444Lys	rs1041048235	missense variant	-	NC_000001.11:g.11794373G>C	TOPMed
MTHFR	P42898	p.Asn444Thr	rs1197193333	missense variant	-	NC_000001.11:g.11794374T>G	gnomAD
MTHFR	P42898	p.Arg445Trp	rs138469955	missense variant	-	NC_000001.11:g.11794372G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg445Gln	rs774694621	missense variant	-	NC_000001.11:g.11794371C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn446Ser	rs1206497521	missense variant	-	NC_000001.11:g.11794368T>C	TOPMed,gnomAD
MTHFR	P42898	p.Lys449Arg	rs1463970820	missense variant	-	NC_000001.11:g.11794359T>C	TOPMed
MTHFR	P42898	p.Thr451Ile	rs759193051	missense variant	-	NC_000001.11:g.11794085G>A	ExAC
MTHFR	P42898	p.Pro454His	rs1219122595	missense variant	-	NC_000001.11:g.11794076G>T	gnomAD
MTHFR	P42898	p.Trp455Ter	RCV000523084	nonsense	-	NC_000001.11:g.11794072C>T	ClinVar
MTHFR	P42898	p.Trp455Ter	rs1553185497	stop gained	-	NC_000001.11:g.11794072C>T	-
MTHFR	P42898	p.Asn456His	rs1310876112	missense variant	-	NC_000001.11:g.11794071T>G	TOPMed,gnomAD
MTHFR	P42898	p.Asp457His	rs371829068	missense variant	-	NC_000001.11:g.11794068C>G	ESP,ExAC,gnomAD
MTHFR	P42898	p.Ala461Val	rs777304472	missense variant	-	NC_000001.11:g.11794055G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala462Ser	rs1413722522	missense variant	-	NC_000001.11:g.11794053C>A	gnomAD
MTHFR	P42898	p.Ala462Val	rs1420094265	missense variant	-	NC_000001.11:g.11794052G>A	gnomAD
MTHFR	P42898	p.Ser465Arg	rs778887074	missense variant	-	NC_000001.11:g.11794044T>G	ExAC,gnomAD
MTHFR	P42898	p.Glu470Leu	RCV000385555	missense variant	-	NC_000001.11:g.11794028_11794029delinsAG	ClinVar
MTHFR	P42898	p.Glu470Leu	rs886043349	missense variant	-	NC_000001.11:g.11794028_11794029delinsAG	-
MTHFR	P42898	p.Glu470Val	rs142617551	missense variant	-	NC_000001.11:g.11794028T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu470Ter	rs139645527	stop gained	-	NC_000001.11:g.11794029C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu470Leu	RCV000811402	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11794028_11794029delinsAG	ClinVar
MTHFR	P42898	p.Glu470Gln	rs139645527	missense variant	-	NC_000001.11:g.11794029C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu470Val	RCV000319501	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11794028T>A	ClinVar
MTHFR	P42898	p.Glu470Ala	VAR_054158	Missense	-	-	UniProt
MTHFR	P42898	p.Arg473Gln	rs144594875	missense variant	-	NC_000001.11:g.11794019C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg473Trp	rs750510348	missense variant	-	NC_000001.11:g.11794020G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg476His	rs751995483	missense variant	-	NC_000001.11:g.11794010C>T	ExAC,gnomAD
MTHFR	P42898	p.Arg476Cys	rs757784497	missense variant	-	NC_000001.11:g.11794011G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gly478Val	rs764455987	missense variant	-	NC_000001.11:g.11794004C>A	ExAC,gnomAD
MTHFR	P42898	p.Ile482Val	rs1248420915	missense variant	-	NC_000001.11:g.11793993T>C	gnomAD
MTHFR	P42898	p.Gln485His	rs545002537	missense variant	-	NC_000001.11:g.11793982C>A	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn487Ser	rs1446936545	missense variant	-	NC_000001.11:g.11793977T>C	gnomAD
MTHFR	P42898	p.Ile488Val	rs1235405305	missense variant	-	NC_000001.11:g.11793975T>C	TOPMed
MTHFR	P42898	p.Asn489Ser	rs775917722	missense variant	-	NC_000001.11:g.11793971T>C	ExAC,gnomAD
MTHFR	P42898	p.Gly490Arg	rs760349899	missense variant	-	NC_000001.11:g.11793969C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys491Gln	rs1369366243	missense variant	-	NC_000001.11:g.11793966T>G	gnomAD
MTHFR	P42898	p.Pro492Leu	rs772615731	missense variant	-	NC_000001.11:g.11793962G>A	ExAC,gnomAD
MTHFR	P42898	p.Ser493Thr	rs748104181	missense variant	-	NC_000001.11:g.11793960A>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp495Asn	rs749165790	missense variant	-	NC_000001.11:g.11793954C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ile497Phe	rs1397197928	missense variant	-	NC_000001.11:g.11793948T>A	TOPMed
MTHFR	P42898	p.Ile497Val	rs1397197928	missense variant	-	NC_000001.11:g.11793948T>C	TOPMed
MTHFR	P42898	p.Val498Met	rs150870770	missense variant	-	NC_000001.11:g.11793945C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Trp500Gly	rs1357376759	missense variant	-	NC_000001.11:g.11793939A>C	gnomAD
MTHFR	P42898	p.Trp500Cys	rs116620395	missense variant	-	NC_000001.11:g.11793937C>G	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Gly504Arg	rs1373785177	missense variant	-	NC_000001.11:g.11793927C>T	gnomAD
MTHFR	P42898	p.Tyr506Asp	RCV000167614	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11793921A>C	ClinVar
MTHFR	P42898	p.Tyr506Cys	rs764650203	missense variant	-	NC_000001.11:g.11793920T>C	ExAC,gnomAD
MTHFR	P42898	p.Tyr506Asp	rs786204026	missense variant	-	NC_000001.11:g.11793921A>C	-
MTHFR	P42898	p.Tyr506Asp	rs786204026	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11793921A>C	UniProt,dbSNP
MTHFR	P42898	p.Tyr506Asp	VAR_074145	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11793921A>C	UniProt
MTHFR	P42898	p.Lys510Glu	rs1425929014	missense variant	-	NC_000001.11:g.11793909T>C	gnomAD
MTHFR	P42898	p.Lys510Thr	rs753049408	missense variant	-	NC_000001.11:g.11793908T>G	ExAC,gnomAD
MTHFR	P42898	p.Tyr512Cys	rs1464875135	missense variant	-	NC_000001.11:g.11792375T>C	TOPMed,gnomAD
MTHFR	P42898	p.Leu513Ter	rs1553185069	stop gained	-	NC_000001.11:g.11792372A>C	-
MTHFR	P42898	p.Leu513Ile	rs201888750	missense variant	-	NC_000001.11:g.11792373A>T	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Leu513Ter	RCV000657793	nonsense	-	NC_000001.11:g.11792372A>C	ClinVar
MTHFR	P42898	p.Arg519Leu	rs45449298	missense variant	-	NC_000001.11:g.11792354C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg519Cys	rs45496998	missense variant	-	NC_000001.11:g.11792355G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg519Leu	RCV000173820	missense variant	-	NC_000001.11:g.11792354C>A	ClinVar
MTHFR	P42898	p.Arg519Leu	RCV000763727	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792354C>A	ClinVar
MTHFR	P42898	p.Arg519His	rs45449298	missense variant	-	NC_000001.11:g.11792354C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu520Gln	rs756994487	missense variant	-	NC_000001.11:g.11792352C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu520Lys	rs756994487	missense variant	-	NC_000001.11:g.11792352C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr521Ala	rs1205287921	missense variant	-	NC_000001.11:g.11792349T>C	gnomAD
MTHFR	P42898	p.Thr521Ile	rs1482156613	missense variant	-	NC_000001.11:g.11792348G>A	gnomAD
MTHFR	P42898	p.Ala522Val	rs1255283120	missense variant	-	NC_000001.11:g.11792345G>A	gnomAD
MTHFR	P42898	p.Ala524Gly	rs774934088	missense variant	-	NC_000001.11:g.11792339G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala524Glu	rs774934088	missense variant	-	NC_000001.11:g.11792339G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gln527Arg	rs762581197	missense variant	-	NC_000001.11:g.11792330T>C	ExAC,gnomAD
MTHFR	P42898	p.Gln527Ter	rs1383010048	stop gained	-	NC_000001.11:g.11792331G>A	gnomAD
MTHFR	P42898	p.Val528Ala	rs752143951	missense variant	-	NC_000001.11:g.11792327A>G	ExAC,gnomAD
MTHFR	P42898	p.Lys531Ter	rs759367609	stop gained	-	NC_000001.11:g.11792319T>A	ExAC,gnomAD
MTHFR	P42898	p.Lys531Ter	RCV000416933	frameshift	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792317del	ClinVar
MTHFR	P42898	p.Glu533Lys	rs770670302	missense variant	-	NC_000001.11:g.11792313C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg535Gln	rs773360881	missense variant	-	NC_000001.11:g.11792306C>T	ExAC,gnomAD
MTHFR	P42898	p.Arg535Trp	rs760886915	missense variant	-	NC_000001.11:g.11792307G>A	ExAC,gnomAD
MTHFR	P42898	p.Val536Phe	rs786204028	missense variant	-	NC_000001.11:g.11792304C>A	TOPMed
MTHFR	P42898	p.Val536Phe	rs786204028	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11792304C>A	UniProt,dbSNP
MTHFR	P42898	p.Val536Phe	VAR_074146	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11792304C>A	UniProt
MTHFR	P42898	p.Val536Ile	RCV000190390	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792304C>T	ClinVar
MTHFR	P42898	p.Val536Phe	RCV000167616	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792304C>A	ClinVar
MTHFR	P42898	p.Val536Ile	rs786204028	missense variant	-	NC_000001.11:g.11792304C>T	TOPMed
MTHFR	P42898	p.Asn537Lys	RCV000190391	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11792299A>T	ClinVar
MTHFR	P42898	p.Asn537Lys	rs796064511	missense variant	-	NC_000001.11:g.11792299A>T	-
MTHFR	P42898	p.Tyr538Asn	rs995289143	missense variant	-	NC_000001.11:g.11792298A>T	TOPMed,gnomAD
MTHFR	P42898	p.Tyr538His	rs995289143	missense variant	-	NC_000001.11:g.11792298A>G	TOPMed,gnomAD
MTHFR	P42898	p.Val541Ala	rs779726227	missense variant	-	NC_000001.11:g.11792288A>G	TOPMed,gnomAD
MTHFR	P42898	p.Asn542Thr	rs145641996	missense variant	-	NC_000001.11:g.11792285T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn542Ser	rs145641996	missense variant	-	NC_000001.11:g.11792285T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Lys544Asn	rs769258023	missense variant	-	NC_000001.11:g.11792278C>G	ExAC,gnomAD
MTHFR	P42898	p.Lys544Arg	rs1203757587	missense variant	-	NC_000001.11:g.11792279T>C	gnomAD
MTHFR	P42898	p.Glu546Gln	rs1051649397	missense variant	-	NC_000001.11:g.11791323C>G	TOPMed
MTHFR	P42898	p.Asn550Tyr	rs1405669115	missense variant	-	NC_000001.11:g.11791311T>A	TOPMed
MTHFR	P42898	p.Asn550Ser	rs781388555	missense variant	-	NC_000001.11:g.11791310T>C	ExAC,gnomAD
MTHFR	P42898	p.Asn550Ser	RCV000280809	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11791310T>C	ClinVar
MTHFR	P42898	p.Ala551Thr	rs140565495	missense variant	-	NC_000001.11:g.11791308C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro556Leu	rs747712448	missense variant	-	NC_000001.11:g.11791292G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro556Leu	RCV000558638	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11791292G>A	ClinVar
MTHFR	P42898	p.Trp561Ter	RCV000709684	nonsense	Neural tube defect (NTD)	NC_000001.11:g.11791276C>T	ClinVar
MTHFR	P42898	p.Gly562Asp	rs1161759917	missense variant	-	NC_000001.11:g.11791274C>T	TOPMed
MTHFR	P42898	p.Gly562Asp	RCV000507518	missense variant	-	NC_000001.11:g.11791274C>T	ClinVar
MTHFR	P42898	p.Arg567Ter	rs140277700	stop gained	-	NC_000001.11:g.11791260G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg567Gln	rs750272108	missense variant	-	NC_000001.11:g.11791259C>T	ExAC,gnomAD
MTHFR	P42898	p.Gln571Ter	rs1434449406	stop gained	-	NC_000001.11:g.11791248G>A	TOPMed
MTHFR	P42898	p.Pro572Leu	rs144508139	missense variant	-	NC_000001.11:g.11791244G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Pro572Leu	rs144508139	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791244G>A	UniProt,dbSNP
MTHFR	P42898	p.Pro572Leu	VAR_009536	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791244G>A	UniProt
MTHFR	P42898	p.Val574Ile	rs202153689	missense variant	-	NC_000001.11:g.11791239C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Val574Gly	VAR_074147	Missense	Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]	-	UniProt
MTHFR	P42898	p.Val575Gly	RCV000167619	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11791235A>C	ClinVar
MTHFR	P42898	p.Val575Ala	rs786204031	missense variant	-	NC_000001.11:g.11791235A>G	gnomAD
MTHFR	P42898	p.Val575Gly	rs786204031	missense variant	-	NC_000001.11:g.11791235A>C	gnomAD
MTHFR	P42898	p.Val575Gly	rs786204031	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791235A>C	UniProt,dbSNP
MTHFR	P42898	p.Val575Gly	VAR_074148	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11791235A>C	UniProt
MTHFR	P42898	p.Val578Ile	rs763185082	missense variant	-	NC_000001.11:g.11791227C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Val578Ala	rs1433249020	missense variant	-	NC_000001.11:g.11791226A>G	gnomAD
MTHFR	P42898	p.Phe580Leu	rs770471347	missense variant	-	NC_000001.11:g.11791221A>G	ExAC,gnomAD
MTHFR	P42898	p.Phe580Ter	RCV000149178	frameshift	Malignant tumor of prostate	NC_000001.11:g.11791221del	ClinVar
MTHFR	P42898	p.Met581Ile	rs45590836	missense variant	-	NC_000001.11:g.11791216C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Met581Val	rs746327818	missense variant	-	NC_000001.11:g.11791218T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Met581Thr	rs777084035	missense variant	-	NC_000001.11:g.11791217A>G	ExAC,gnomAD
MTHFR	P42898	p.Met581Ile	RCV000003705	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11791216C>T	ClinVar
MTHFR	P42898	p.Trp583Ter	rs1314085200	stop gained	-	NC_000001.11:g.11791211C>T	TOPMed
MTHFR	P42898	p.Asp585Asn	rs149278646	missense variant	-	NC_000001.11:g.11790898C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu586Lys	rs983672500	missense variant	-	NC_000001.11:g.11790895C>T	TOPMed,gnomAD
MTHFR	P42898	p.Ala587Asp	rs761226286	missense variant	-	NC_000001.11:g.11790891G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala587Val	rs761226286	missense variant	-	NC_000001.11:g.11790891G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala587Gly	rs761226286	missense variant	-	NC_000001.11:g.11790891G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Phe588Ser	rs1030439905	missense variant	-	NC_000001.11:g.11790888A>G	TOPMed
MTHFR	P42898	p.Ile592Thr	rs762599135	missense variant	-	NC_000001.11:g.11790876A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg594Gly	rs775066323	missense variant	-	NC_000001.11:g.11790871G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg594Gln	rs2274976	missense variant	-	NC_000001.11:g.11790870C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg594Trp	rs775066323	missense variant	-	NC_000001.11:g.11790871G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg594Gln	RCV000433699	missense variant	-	NC_000001.11:g.11790870C>T	ClinVar
MTHFR	P42898	p.Trp595Ter	rs745437278	stop gained	-	NC_000001.11:g.11790866C>T	ExAC,gnomAD
MTHFR	P42898	p.Leu598Pro	rs786204034	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790858A>G	UniProt,dbSNP
MTHFR	P42898	p.Leu598Pro	VAR_074149	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790858A>G	UniProt
MTHFR	P42898	p.Leu598Pro	rs786204034	missense variant	-	NC_000001.11:g.11790858A>G	-
MTHFR	P42898	p.Leu598Pro	RCV000167622	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790858A>G	ClinVar
MTHFR	P42898	p.TyrGlu599TerTer	rs786204035	stop gained	-	NC_000001.11:g.11790853_11790854delinsAC	-
MTHFR	P42898	p.Tyr599Ter	rs770793658	stop gained	-	NC_000001.11:g.11790854A>C	ExAC,gnomAD
MTHFR	P42898	p.Glu600Ter	rs201095365	stop gained	-	NC_000001.11:g.11790853C>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu600Asp	rs904238175	missense variant	-	NC_000001.11:g.11790851C>A	TOPMed,gnomAD
MTHFR	P42898	p.Glu600Lys	rs201095365	missense variant	-	NC_000001.11:g.11790853C>T	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Glu602Ala	rs903649610	missense variant	-	NC_000001.11:g.11790846T>G	TOPMed,gnomAD
MTHFR	P42898	p.Glu602Ter	rs1000738509	stop gained	-	NC_000001.11:g.11790847C>A	TOPMed,gnomAD
MTHFR	P42898	p.Ser603Cys	rs758206023	missense variant	-	NC_000001.11:g.11790843G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser603Phe	rs758206023	missense variant	-	NC_000001.11:g.11790843G>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ser603Cys	RCV000167624	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790843G>C	ClinVar
MTHFR	P42898	p.Pro604Leu	rs747938592	missense variant	-	NC_000001.11:g.11790840G>A	ExAC,gnomAD
MTHFR	P42898	p.Ser605Pro	rs200379144	missense variant	-	NC_000001.11:g.11790838A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg606Cys	rs373747884	missense variant	-	NC_000001.11:g.11790835G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Arg606His	rs753917964	missense variant	-	NC_000001.11:g.11790834C>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Gln610Lys	rs1466575883	missense variant	-	NC_000001.11:g.11790823G>T	TOPMed
MTHFR	P42898	p.Gln610Ter	rs1466575883	stop gained	-	NC_000001.11:g.11790823G>A	TOPMed
MTHFR	P42898	p.Gln610Arg	rs1414726290	missense variant	-	NC_000001.11:g.11790822T>C	gnomAD
MTHFR	P42898	p.Tyr611Cys	rs756615138	missense variant	-	NC_000001.11:g.11790819T>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Tyr611Phe	rs756615138	missense variant	-	NC_000001.11:g.11790819T>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.His613Gln	rs199730437	missense variant	-	NC_000001.11:g.11790812G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asp614His	rs879406669	missense variant	-	NC_000001.11:g.11790811C>G	gnomAD
MTHFR	P42898	p.Asp614Asn	rs879406669	missense variant	-	NC_000001.11:g.11790811C>T	gnomAD
MTHFR	P42898	p.Asn615Asp	rs1487547746	missense variant	-	NC_000001.11:g.11790808T>C	TOPMed,gnomAD
MTHFR	P42898	p.Asn620Ser	rs776034726	missense variant	-	NC_000001.11:g.11790792T>C	ExAC,gnomAD
MTHFR	P42898	p.Leu621Val	rs770407631	missense variant	-	NC_000001.11:g.11790790G>C	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu621Met	rs770407631	missense variant	-	NC_000001.11:g.11790790G>T	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Leu621Val	RCV000378011	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11790790G>C	ClinVar
MTHFR	P42898	p.Asn624Asp	rs773336859	missense variant	-	NC_000001.11:g.11790781T>C	ExAC,gnomAD
MTHFR	P42898	p.Asn624Ser	rs772127190	missense variant	-	NC_000001.11:g.11790780T>C	ExAC,gnomAD
MTHFR	P42898	p.Asp625Asn	rs942252307	missense variant	-	NC_000001.11:g.11790778C>T	TOPMed
MTHFR	P42898	p.Phe626Leu	rs199707466	missense variant	-	NC_000001.11:g.11790773G>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Phe626Leu	rs747993832	missense variant	-	NC_000001.11:g.11790775A>G	ExAC,gnomAD
MTHFR	P42898	p.Leu628Pro	rs786204037	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790768A>G	UniProt,dbSNP
MTHFR	P42898	p.Leu628Pro	VAR_074150	missense variant	Methylenetetrahydrofolate reductase deficiency (MTHFRD)	NC_000001.11:g.11790768A>G	UniProt
MTHFR	P42898	p.Leu628Pro	rs786204037	missense variant	-	NC_000001.11:g.11790768A>G	TOPMed
MTHFR	P42898	p.Leu628Gln	rs786204037	missense variant	-	NC_000001.11:g.11790768A>T	TOPMed
MTHFR	P42898	p.Leu628Pro	RCV000167625	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790768A>G	ClinVar
MTHFR	P42898	p.Leu628Val	rs755181257	missense variant	-	NC_000001.11:g.11790769G>C	ExAC,gnomAD
MTHFR	P42898	p.Asp629Gly	rs370272345	missense variant	-	NC_000001.11:g.11790765T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Cys631Tyr	rs756165045	missense variant	-	NC_000001.11:g.11790759C>T	ExAC,gnomAD
MTHFR	P42898	p.Val635Leu	rs190087897	missense variant	-	NC_000001.11:g.11790748C>A	1000Genomes,ExAC,gnomAD
MTHFR	P42898	p.Glu637Lys	rs1057334427	missense variant	-	NC_000001.11:g.11790742C>T	TOPMed
MTHFR	P42898	p.Asp638Val	rs768081446	missense variant	-	NC_000001.11:g.11790738T>A	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr639Ile	rs1187304768	missense variant	-	NC_000001.11:g.11790735G>A	TOPMed,gnomAD
MTHFR	P42898	p.Asn644Lys	rs200947520	missense variant	-	NC_000001.11:g.11790719G>T	1000Genomes,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn644Lys	RCV000642249	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790719G>T	ClinVar
MTHFR	P42898	p.Arg645Ser	rs1206548887	missense variant	-	NC_000001.11:g.11790716C>A	gnomAD
MTHFR	P42898	p.Thr647Ile	rs1445911397	missense variant	-	NC_000001.11:g.11790711G>A	gnomAD
MTHFR	P42898	p.Gln648His	rs776289670	missense variant	-	NC_000001.11:g.11790707C>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Asn649Asp	rs765930342	missense variant	-	NC_000001.11:g.11790706T>C	ExAC,gnomAD
MTHFR	P42898	p.Ala650Val	RCV000321003	missense variant	Neural tube defects, folate-sensitive (NTDFS)	NC_000001.11:g.11790702G>A	ClinVar
MTHFR	P42898	p.Ala650Val	rs145544233	missense variant	-	NC_000001.11:g.11790702G>A	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala650Gly	rs145544233	missense variant	-	NC_000001.11:g.11790702G>C	ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ala650Ser	rs976155115	missense variant	-	NC_000001.11:g.11790703C>A	TOPMed
MTHFR	P42898	p.Arg651Gly	rs1409161468	missense variant	-	NC_000001.11:g.11790700T>C	TOPMed,gnomAD
MTHFR	P42898	p.Arg651Lys	rs1228526408	missense variant	-	NC_000001.11:g.11790699C>T	TOPMed,gnomAD
MTHFR	P42898	p.Glu652Lys	rs1366865284	missense variant	-	NC_000001.11:g.11790697C>T	gnomAD
MTHFR	P42898	p.Thr653Met	rs35737219	missense variant	-	NC_000001.11:g.11790693G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Thr653Met	rs35737219	missense variant	-	NC_000001.11:g.11790693G>A	UniProt,dbSNP
MTHFR	P42898	p.Thr653Met	VAR_018860	missense variant	-	NC_000001.11:g.11790693G>A	UniProt
MTHFR	P42898	p.Thr653Met	RCV000534228	missense variant	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790693G>A	ClinVar
MTHFR	P42898	p.Thr653Met	RCV000261696	missense variant	-	NC_000001.11:g.11790693G>A	ClinVar
MTHFR	P42898	p.Thr653Met	RCV000755305	missense variant	-	NC_000001.11:g.11790693G>A	ClinVar
MTHFR	P42898	p.Ala655Thr	rs907946954	missense variant	-	NC_000001.11:g.11790688C>T	gnomAD
MTHFR	P42898	p.Ala655Val	rs761795803	missense variant	-	NC_000001.11:g.11790687G>A	ExAC,gnomAD
MTHFR	P42898	p.Ter657Ser	rs749490263	stop lost	-	NC_000001.11:g.11790681C>G	ExAC,gnomAD
MTHFR	P42898	p.Ter657Arg	rs768434408	stop lost	-	NC_000001.11:g.11790682A>G	ExAC,TOPMed,gnomAD
MTHFR	P42898	p.Ter657Arg	RCV000167626	stop lost	Homocysteinemia due to MTHFR deficiency	NC_000001.11:g.11790682A>G	ClinVar
HAAO	P46952	p.Glu2Lys	rs747213847	missense variant	-	NC_000002.12:g.42792533C>T	ExAC,gnomAD
HAAO	P46952	p.Arg3Ser	rs773185639	missense variant	-	NC_000002.12:g.42792530G>T	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg3Cys	rs773185639	missense variant	-	NC_000002.12:g.42792530G>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg4Leu	rs1387088434	missense variant	-	NC_000002.12:g.42792526C>A	gnomAD
HAAO	P46952	p.Leu5Pro	rs765416653	missense variant	-	NC_000002.12:g.42792523A>G	TOPMed
HAAO	P46952	p.Leu5Arg	rs765416653	missense variant	-	NC_000002.12:g.42792523A>C	TOPMed
HAAO	P46952	p.Val7Met	rs748073110	missense variant	-	NC_000002.12:g.42792518C>T	ExAC,gnomAD
HAAO	P46952	p.Arg8Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42792514C>A	NCI-TCGA
HAAO	P46952	p.Arg8Ser	rs778987144	missense variant	-	NC_000002.12:g.42792513C>G	ExAC,gnomAD
HAAO	P46952	p.Ala9Asp	rs1479834512	missense variant	-	NC_000002.12:g.42792511G>T	TOPMed,gnomAD
HAAO	P46952	p.Trp10Ter	rs151014776	stop gained	-	NC_000002.12:g.42792507C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Trp10Ser	rs941399527	missense variant	-	NC_000002.12:g.42792508C>G	TOPMed,gnomAD
HAAO	P46952	p.Trp10Cys	rs151014776	missense variant	-	NC_000002.12:g.42792507C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Trp10Gly	rs1038331208	missense variant	-	NC_000002.12:g.42792509A>C	TOPMed
HAAO	P46952	p.Glu13Gln	rs749104598	missense variant	-	NC_000002.12:g.42792500C>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Asn14His	rs1313568656	missense variant	-	NC_000002.12:g.42792497T>G	gnomAD
HAAO	P46952	p.Asn14Thr	rs1245249111	missense variant	-	NC_000002.12:g.42792496T>G	gnomAD
HAAO	P46952	p.Arg15Trp	rs755747689	missense variant	-	NC_000002.12:g.42792494G>A	ExAC,gnomAD
HAAO	P46952	p.Arg15Gly	rs755747689	missense variant	-	NC_000002.12:g.42792494G>C	ExAC,gnomAD
HAAO	P46952	p.Gly16Ala	rs750070843	missense variant	-	NC_000002.12:g.42792490C>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly16Val	rs750070843	missense variant	-	NC_000002.12:g.42792490C>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly16Asp	COSM1408105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42792490C>T	NCI-TCGA Cosmic
HAAO	P46952	p.Ser17Phe	rs372375191	missense variant	-	NC_000002.12:g.42792487G>A	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ser17Thr	rs1389871304	missense variant	-	NC_000002.12:g.42792488A>T	gnomAD
HAAO	P46952	p.Pro20Arg	rs1367308840	missense variant	-	NC_000002.12:g.42792478G>C	gnomAD
HAAO	P46952	p.Pro20Leu	rs1367308840	missense variant	-	NC_000002.12:g.42792478G>A	gnomAD
HAAO	P46952	p.Pro21Leu	rs199602527	missense variant	-	NC_000002.12:g.42792475G>A	1000Genomes,ExAC,gnomAD
HAAO	P46952	p.Pro21Ala	rs1161601413	missense variant	-	NC_000002.12:g.42792476G>C	gnomAD
HAAO	P46952	p.Pro21Arg	rs199602527	missense variant	-	NC_000002.12:g.42792475G>C	1000Genomes,ExAC,gnomAD
HAAO	P46952	p.Val22Leu	rs759969114	missense variant	-	NC_000002.12:g.42792473C>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Cys23Tyr	rs766679141	missense variant	-	NC_000002.12:g.42792469C>T	ExAC,gnomAD
HAAO	P46952	p.His28Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42788606G>A	NCI-TCGA
HAAO	P46952	p.Gln29Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.42788603G>A	NCI-TCGA
HAAO	P46952	p.Glu30Lys	COSM3581685	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42788600C>T	NCI-TCGA Cosmic
HAAO	P46952	p.Leu32Ile	rs750800904	missense variant	-	NC_000002.12:g.42788594G>T	ExAC,gnomAD
HAAO	P46952	p.Leu32Pro	rs767729071	missense variant	-	NC_000002.12:g.42788593A>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Met35Leu	rs1460139101	missense variant	-	NC_000002.12:g.42788585T>A	TOPMed,gnomAD
HAAO	P46952	p.Met35Ile	rs751802918	missense variant	-	NC_000002.12:g.42788583C>T	ExAC,gnomAD
HAAO	P46952	p.Phe36Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42788582A>G	NCI-TCGA
HAAO	P46952	p.Ile37Val	rs3816183	missense variant	-	NC_000002.12:g.42788579T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly38Glu	rs1325822027	missense variant	-	NC_000002.12:g.42788575C>T	gnomAD
HAAO	P46952	p.Gly38Arg	rs775376402	missense variant	-	NC_000002.12:g.42788576C>T	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Pro40Ser	rs1454175501	missense variant	-	NC_000002.12:g.42788570G>A	TOPMed,gnomAD
HAAO	P46952	p.Asn41Ser	rs769775981	missense variant	-	NC_000002.12:g.42788566T>C	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Thr42Ser	rs3816182	missense variant	-	NC_000002.12:g.42788564T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Thr42Ile	rs1048768411	missense variant	-	NC_000002.12:g.42788563G>A	TOPMed,gnomAD
HAAO	P46952	p.Thr42Ala	rs3816182	missense variant	-	NC_000002.12:g.42788564T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Thr42Ser	rs1048768411	missense variant	-	NC_000002.12:g.42788563G>C	TOPMed,gnomAD
HAAO	P46952	p.Asp45Glu	rs565558600	missense variant	-	NC_000002.12:g.42788553G>C	1000Genomes,ExAC,gnomAD
HAAO	P46952	p.His47Tyr	COSM3581684	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42788549G>A	NCI-TCGA Cosmic
HAAO	P46952	p.Ile48Asn	rs200729980	missense variant	-	NC_000002.12:g.42788545A>T	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ile48Met	rs140941826	missense variant	-	NC_000002.12:g.42788544G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Glu49Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42788543C>T	NCI-TCGA
HAAO	P46952	p.Glu50Asp	rs373632713	missense variant	-	NC_000002.12:g.42788538C>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly51Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42788536C>T	NCI-TCGA
HAAO	P46952	p.Glu52Lys	rs750877175	missense variant	-	NC_000002.12:g.42788534C>T	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Glu53Asp	rs757695001	missense variant	-	NC_000002.12:g.42788529C>G	ExAC,gnomAD
HAAO	P46952	p.Glu53Ter	rs377670923	stop gained	-	NC_000002.12:g.42788531C>A	ESP,ExAC,gnomAD
HAAO	P46952	p.Val54Ile	rs147350952	missense variant	-	NC_000002.12:g.42783867C>T	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Tyr56Cys	rs1405984908	missense variant	-	NC_000002.12:g.42783860T>C	gnomAD
HAAO	P46952	p.Tyr56His	rs760537122	missense variant	-	NC_000002.12:g.42783861A>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Tyr56Ter	rs1047319456	stop gained	-	NC_000002.12:g.42783859G>C	TOPMed
HAAO	P46952	p.Gly60Val	rs767247190	missense variant	-	NC_000002.12:g.42783848C>A	ExAC,gnomAD
HAAO	P46952	p.Asp61His	rs1269307205	missense variant	-	NC_000002.12:g.42783846C>G	TOPMed,gnomAD
HAAO	P46952	p.Asp61Asn	rs1269307205	missense variant	-	NC_000002.12:g.42783846C>T	TOPMed,gnomAD
HAAO	P46952	p.Asp61Glu	rs1165733213	missense variant	-	NC_000002.12:g.42783844G>T	TOPMed
HAAO	P46952	p.Met62Ile	rs1418570526	missense variant	-	NC_000002.12:g.42783841C>T	TOPMed
HAAO	P46952	p.Val63Asp	rs761570082	missense variant	-	NC_000002.12:g.42783839A>T	ExAC,gnomAD
HAAO	P46952	p.Val63Leu	COSM1483096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42783840C>G	NCI-TCGA Cosmic
HAAO	P46952	p.Arg65Ter	rs773874847	stop gained	-	NC_000002.12:g.42783834G>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg65Gln	rs149516535	missense variant	-	NC_000002.12:g.42783833C>T	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Val66Ile	rs1318227711	missense variant	-	NC_000002.12:g.42783831C>T	gnomAD
HAAO	P46952	p.Leu67Val	rs199652625	missense variant	-	NC_000002.12:g.42783828G>C	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Glu68Val	rs1323858112	missense variant	-	NC_000002.12:g.42783824T>A	gnomAD
HAAO	P46952	p.His72Gln	rs138010581	missense variant	-	NC_000002.12:g.42783811G>C	ESP,TOPMed,gnomAD
HAAO	P46952	p.His72Gln	rs138010581	missense variant	-	NC_000002.12:g.42783811G>T	ESP,TOPMed,gnomAD
HAAO	P46952	p.His72Leu	COSM3372785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42783812T>A	NCI-TCGA Cosmic
HAAO	P46952	p.Arg73Trp	rs34183220	missense variant	-	NC_000002.12:g.42783810G>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg73Gln	rs200223520	missense variant	-	NC_000002.12:g.42783809C>T	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg73Leu	rs200223520	missense variant	-	NC_000002.12:g.42783809C>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Val75Met	rs758658233	missense variant	-	NC_000002.12:g.42783804C>T	ExAC,gnomAD
HAAO	P46952	p.Val76Ile	rs369005564	missense variant	-	NC_000002.12:g.42783801C>T	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Val76Leu	rs369005564	missense variant	-	NC_000002.12:g.42783801C>G	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ile77Asn	rs957175192	missense variant	-	NC_000002.12:g.42783797A>T	TOPMed,gnomAD
HAAO	P46952	p.Ile77Leu	rs778988203	missense variant	-	NC_000002.12:g.42783798T>G	ExAC,gnomAD
HAAO	P46952	p.Arg78Leu	rs780063763	missense variant	-	NC_000002.12:g.42783794C>A	ExAC,gnomAD
HAAO	P46952	p.Arg78Gln	rs780063763	missense variant	-	NC_000002.12:g.42783794C>T	ExAC,gnomAD
HAAO	P46952	p.Arg78Trp	rs138265146	missense variant	-	NC_000002.12:g.42783795G>A	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gln79Lys	rs750333548	missense variant	-	NC_000002.12:g.42783792G>T	ExAC,gnomAD
HAAO	P46952	p.Glu81Ter	rs1486834683	stop gained	-	NC_000002.12:g.42783786C>A	gnomAD
HAAO	P46952	p.Ile82Val	rs1424693939	missense variant	-	NC_000002.12:g.42783420T>C	TOPMed,gnomAD
HAAO	P46952	p.Pro86Thr	rs1386540093	missense variant	-	NC_000002.12:g.42783408G>T	gnomAD
HAAO	P46952	p.Ala87Val	rs1181265039	missense variant	-	NC_000002.12:g.42783404G>A	gnomAD
HAAO	P46952	p.Arg88Ser	rs1422876322	missense variant	-	NC_000002.12:g.42783400C>G	gnomAD
HAAO	P46952	p.Val89Ala	rs751343806	missense variant	-	NC_000002.12:g.42783398A>G	ExAC,gnomAD
HAAO	P46952	p.Pro90Ser	rs1179263312	missense variant	-	NC_000002.12:g.42783396G>A	TOPMed,gnomAD
HAAO	P46952	p.Pro90Thr	rs1179263312	missense variant	-	NC_000002.12:g.42783396G>T	TOPMed,gnomAD
HAAO	P46952	p.Pro93Arg	rs762562016	missense variant	-	NC_000002.12:g.42783386G>C	ExAC
HAAO	P46952	p.Gln94Glu	rs902143587	missense variant	-	NC_000002.12:g.42783384G>C	TOPMed,gnomAD
HAAO	P46952	p.Gln94Ter	rs902143587	stop gained	-	NC_000002.12:g.42783384G>A	TOPMed,gnomAD
HAAO	P46952	p.Arg95Ser	rs140475049	missense variant	-	NC_000002.12:g.42783379C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ala97Thr	rs1244224815	missense variant	-	NC_000002.12:g.42783375C>T	gnomAD
HAAO	P46952	p.Val100Met	rs759103777	missense variant	-	NC_000002.12:g.42783366C>T	ExAC,gnomAD
HAAO	P46952	p.Val103Leu	rs372480367	missense variant	-	NC_000002.12:g.42783357C>G	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Val103Ala	rs772460775	missense variant	-	NC_000002.12:g.42783356A>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Glu105Gly	rs1202463615	missense variant	-	NC_000002.12:g.42783350T>C	gnomAD
HAAO	P46952	p.Glu105Lys	COSM461023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42783351C>T	NCI-TCGA Cosmic
HAAO	P46952	p.Arg106Gln	rs1367447151	missense variant	-	NC_000002.12:g.42783347C>T	TOPMed,gnomAD
HAAO	P46952	p.Arg106Ter	rs967279547	stop gained	-	NC_000002.12:g.42783348G>A	TOPMed,gnomAD
HAAO	P46952	p.Arg108Gln	rs1363954556	missense variant	-	NC_000002.12:g.42783341C>T	TOPMed,gnomAD
HAAO	P46952	p.Arg108Trp	rs753918516	missense variant	-	NC_000002.12:g.42783342G>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Leu109Met	rs780245910	missense variant	-	NC_000002.12:g.42783339G>T	ExAC,gnomAD
HAAO	P46952	p.Thr111Asn	rs1251506828	missense variant	-	NC_000002.12:g.42783332G>T	gnomAD
HAAO	P46952	p.Thr111Ile	rs1251506828	missense variant	-	NC_000002.12:g.42783332G>A	gnomAD
HAAO	P46952	p.Glu112Gly	rs200550819	missense variant	-	NC_000002.12:g.42783329T>C	1000Genomes,ExAC,gnomAD
HAAO	P46952	p.Glu112Lys	rs535861822	missense variant	-	NC_000002.12:g.42783330C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Glu112Asp	rs757166545	missense variant	-	NC_000002.12:g.42783328C>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Glu112Ter	rs535861822	stop gained	-	NC_000002.12:g.42783330C>A	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Leu113Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42783327G>T	NCI-TCGA
HAAO	P46952	p.Leu113Pro	rs777470523	missense variant	-	NC_000002.12:g.42783326A>G	ExAC,gnomAD
HAAO	P46952	p.Leu113Val	rs780731532	missense variant	-	NC_000002.12:g.42783327G>C	ExAC,gnomAD
HAAO	P46952	p.Gly115Arg	COSM1494897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42783321C>T	NCI-TCGA Cosmic
HAAO	P46952	p.Arg117Gly	rs1237129539	missense variant	-	NC_000002.12:g.42783315T>C	TOPMed,gnomAD
HAAO	P46952	p.Val120Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42770574A>G	NCI-TCGA
HAAO	P46952	p.Gly121Asp	rs1443470051	missense variant	-	NC_000002.12:g.42770571C>T	TOPMed
HAAO	P46952	p.Gly121Ser	rs746987361	missense variant	-	NC_000002.12:g.42770572C>T	ExAC,gnomAD
HAAO	P46952	p.Asp122Asn	rs936598280	missense variant	-	NC_000002.12:g.42770569C>T	TOPMed,gnomAD
HAAO	P46952	p.Thr123Ile	rs758353167	missense variant	-	NC_000002.12:g.42770565G>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Thr123Asn	rs758353167	missense variant	-	NC_000002.12:g.42770565G>T	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Met124Thr	rs569371046	missense variant	-	NC_000002.12:g.42770562A>G	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Val126Ile	rs1053125533	missense variant	-	NC_000002.12:g.42770557C>T	TOPMed,gnomAD
HAAO	P46952	p.Phe128Ser	rs1291869178	missense variant	-	NC_000002.12:g.42770550A>G	gnomAD
HAAO	P46952	p.Glu129Ter	rs1229597230	stop gained	-	NC_000002.12:g.42770548C>A	gnomAD
HAAO	P46952	p.Tyr133Ter	rs201129834	stop gained	-	NC_000002.12:g.42770534G>C	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Cys134Tyr	rs1427230601	missense variant	-	NC_000002.12:g.42770532C>T	TOPMed
HAAO	P46952	p.Cys134Arg	rs1283240289	missense variant	-	NC_000002.12:g.42770533A>G	gnomAD
HAAO	P46952	p.Asp136Glu	rs1306620502	missense variant	-	NC_000002.12:g.42770525G>T	gnomAD
HAAO	P46952	p.Asp136Asn	rs1443336014	missense variant	-	NC_000002.12:g.42770527C>T	gnomAD
HAAO	P46952	p.Asp136Gly	rs1337925962	missense variant	-	NC_000002.12:g.42770526T>C	gnomAD
HAAO	P46952	p.Gly138Ser	rs753503970	missense variant	-	NC_000002.12:g.42770521C>T	ExAC,gnomAD
HAAO	P46952	p.Thr139Met	rs947881564	missense variant	-	NC_000002.12:g.42770517G>A	TOPMed
HAAO	P46952	p.Gln140Arg	rs1403681005	missense variant	-	NC_000002.12:g.42770514T>C	gnomAD
HAAO	P46952	p.Leu141Phe	rs1159385358	missense variant	-	NC_000002.12:g.42770510C>G	TOPMed,gnomAD
HAAO	P46952	p.Leu141Met	rs1413287614	missense variant	-	NC_000002.12:g.42770512A>T	TOPMed,gnomAD
HAAO	P46952	p.Ala142Val	rs917640070	missense variant	-	NC_000002.12:g.42770508G>A	TOPMed,gnomAD
HAAO	P46952	p.Pro143Leu	rs992351275	missense variant	-	NC_000002.12:g.42770505G>A	TOPMed,gnomAD
HAAO	P46952	p.Ile144Met	COSM4828736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42770501G>C	NCI-TCGA Cosmic
HAAO	P46952	p.Ile145Thr	rs548981352	missense variant	-	NC_000002.12:g.42770499A>G	1000Genomes,ExAC,gnomAD
HAAO	P46952	p.Ile145Met	rs1482682349	missense variant	-	NC_000002.12:g.42770498G>C	gnomAD
HAAO	P46952	p.Gln146His	rs961684946	missense variant	-	NC_000002.12:g.42770495C>G	TOPMed
HAAO	P46952	p.Glu147Asp	rs748957756	missense variant	-	NC_000002.12:g.42770186C>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ser150Ile	rs1274329421	missense variant	-	NC_000002.12:g.42770178C>A	gnomAD
HAAO	P46952	p.Ser151Phe	rs1363149067	missense variant	-	NC_000002.12:g.42770175G>A	gnomAD
HAAO	P46952	p.Ser151Pro	rs372925453	missense variant	-	NC_000002.12:g.42770176A>G	ESP,TOPMed,gnomAD
HAAO	P46952	p.Gln153Arg	rs755657772	missense variant	-	NC_000002.12:g.42770169T>C	ExAC,gnomAD
HAAO	P46952	p.Arg155Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42770163C>A	NCI-TCGA
HAAO	P46952	p.Arg155Lys	rs1304310844	missense variant	-	NC_000002.12:g.42770163C>T	gnomAD
HAAO	P46952	p.Lys158Glu	rs1044985475	missense variant	-	NC_000002.12:g.42770155T>C	TOPMed
HAAO	P46952	p.Ile160Asn	rs1256442710	missense variant	-	NC_000002.12:g.42770148A>T	TOPMed
HAAO	P46952	p.Ile160Met	rs1012600882	missense variant	-	NC_000002.12:g.42770147G>C	TOPMed
HAAO	P46952	p.Asp162His	rs1193841315	missense variant	-	NC_000002.12:g.42770143C>G	TOPMed
HAAO	P46952	p.Asp162Ter	RCV000496188	nonsense	-	-	ClinVar
HAAO	P46952	p.Asp162Ter	RCV000505810	nonsense	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (VCRL1)	-	ClinVar
HAAO	P46952	p.Asp162_Gly286del	VAR_080252	inframe_deletion	Vertebral, cardiac, renal, and limb defects syndrome 1 (VCRL1) [MIM:617660]	-	UniProt
HAAO	P46952	p.Gln163Arg	rs1482354606	missense variant	-	NC_000002.12:g.42769855T>C	gnomAD
HAAO	P46952	p.Leu164Arg	rs1158610917	missense variant	-	NC_000002.12:g.42769852A>C	TOPMed
HAAO	P46952	p.Leu165Val	rs188858795	missense variant	-	NC_000002.12:g.42769850G>C	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Glu167Lys	rs779405314	missense variant	-	NC_000002.12:g.42769844C>T	ExAC,gnomAD
HAAO	P46952	p.Pro168Leu	rs755371631	missense variant	-	NC_000002.12:g.42769840G>A	ExAC,gnomAD
HAAO	P46952	p.Pro171Leu	rs754260181	missense variant	-	NC_000002.12:g.42769831G>A	ExAC,gnomAD
HAAO	P46952	p.Leu172Val	rs1288731945	missense variant	-	NC_000002.12:g.42769829G>C	gnomAD
HAAO	P46952	p.Arg175Pro	rs142300589	missense variant	-	NC_000002.12:g.42769819C>G	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg175Ter	rs201390678	stop gained	-	NC_000002.12:g.42769820G>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg175Gln	rs142300589	missense variant	-	NC_000002.12:g.42769819C>T	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ile177Thr	rs944388409	missense variant	-	NC_000002.12:g.42769813A>G	TOPMed,gnomAD
HAAO	P46952	p.Ile177Phe	rs1449409636	missense variant	-	NC_000002.12:g.42769814T>A	gnomAD
HAAO	P46952	p.Glu179Lys	rs767770795	missense variant	-	NC_000002.12:g.42769808C>T	ExAC,gnomAD
HAAO	P46952	p.Glu179Gln	rs767770795	missense variant	-	NC_000002.12:g.42769808C>G	ExAC,gnomAD
HAAO	P46952	p.Met181Ile	rs1291330786	missense variant	-	NC_000002.12:g.42769800C>T	gnomAD
HAAO	P46952	p.Ser182Pro	rs1457095400	missense variant	-	NC_000002.12:g.42769799A>G	gnomAD
HAAO	P46952	p.Leu183Pro	rs1305764755	missense variant	-	NC_000002.12:g.42769795A>G	TOPMed
HAAO	P46952	p.Leu183Val	rs774509819	missense variant	-	NC_000002.12:g.42769796G>C	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Asp184Gly	rs768673234	missense variant	-	NC_000002.12:g.42769792T>C	ExAC,gnomAD
HAAO	P46952	p.Ala185Thr	rs543681141	missense variant	-	NC_000002.12:g.42769790C>T	1000Genomes,ExAC,gnomAD
HAAO	P46952	p.Ala185Gly	rs373856872	missense variant	-	NC_000002.12:g.42769789G>C	ESP,ExAC,TOPMed
HAAO	P46952	p.Trp186Ter	RCV000496104	nonsense	-	NC_000002.12:g.42769785C>T	ClinVar
HAAO	P46952	p.Trp186Ter	RCV000505813	nonsense	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 (VCRL1)	NC_000002.12:g.42769785C>T	ClinVar
HAAO	P46952	p.Trp186Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42769785C>G	NCI-TCGA
HAAO	P46952	p.Trp186Ter	rs1135401743	stop gained	-	NC_000002.12:g.42769785C>T	gnomAD
HAAO	P46952	p.Trp186Ter	rs371208214	stop gained	-	NC_000002.12:g.42769786C>T	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Trp186Cys	rs1135401743	missense variant	-	NC_000002.12:g.42769785C>A	gnomAD
HAAO	P46952	p.Trp186_Gly286del	VAR_080253	inframe_deletion	Vertebral, cardiac, renal, and limb defects syndrome 1 (VCRL1) [MIM:617660]	-	UniProt
HAAO	P46952	p.His190Gln	rs1270258089	missense variant	-	NC_000002.12:g.42769773G>C	gnomAD
HAAO	P46952	p.His191Arg	rs1208522653	missense variant	-	NC_000002.12:g.42769771T>C	TOPMed
HAAO	P46952	p.Arg192Trp	rs1210319675	missense variant	-	NC_000002.12:g.42769769T>A	gnomAD
HAAO	P46952	p.Arg192Thr	rs1326843080	missense variant	-	NC_000002.12:g.42769768C>G	TOPMed,gnomAD
HAAO	P46952	p.Arg192Lys	rs1326843080	missense variant	-	NC_000002.12:g.42769768C>T	TOPMed,gnomAD
HAAO	P46952	p.Glu193Lys	rs373963540	missense variant	-	NC_000002.12:g.42769766C>T	ESP,ExAC,gnomAD
HAAO	P46952	p.Glu193Gln	rs373963540	missense variant	-	NC_000002.12:g.42769766C>G	ESP,ExAC,gnomAD
HAAO	P46952	p.Leu194Pro	rs749735705	missense variant	-	NC_000002.12:g.42769762A>G	ExAC,gnomAD
HAAO	P46952	p.Ala196Thr	rs1388861377	missense variant	-	NC_000002.12:g.42769757C>T	gnomAD
HAAO	P46952	p.Pro199Arg	rs756426963	missense variant	-	NC_000002.12:g.42769747G>C	ExAC,gnomAD
HAAO	P46952	p.Leu200His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42769744A>T	NCI-TCGA
HAAO	P46952	p.Ser201Thr	rs201598914	missense variant	-	NC_000002.12:g.42769741C>G	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Leu202Gln	rs767863226	missense variant	-	NC_000002.12:g.42769738A>T	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Leu202Pro	rs767863226	missense variant	-	NC_000002.12:g.42769738A>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Leu202Met	rs1388318199	missense variant	-	NC_000002.12:g.42769739G>T	gnomAD
HAAO	P46952	p.Phe203Leu	rs1362424756	missense variant	-	NC_000002.12:g.42769734A>T	gnomAD
HAAO	P46952	p.Phe203Ser	rs1376442674	missense variant	-	NC_000002.12:g.42769735A>G	TOPMed,gnomAD
HAAO	P46952	p.Phe203Cys	rs1376442674	missense variant	-	NC_000002.12:g.42769735A>C	TOPMed,gnomAD
HAAO	P46952	p.Thr206Ser	rs757516697	missense variant	-	NC_000002.12:g.42769726G>C	ExAC,gnomAD
HAAO	P46952	p.Glu208Lys	rs1380896269	missense variant	-	NC_000002.12:g.42769721C>T	TOPMed
HAAO	P46952	p.Thr209Ser	rs140165694	missense variant	-	NC_000002.12:g.42769718T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ile212Thr	rs759427449	missense variant	-	NC_000002.12:g.42767924A>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ala213Thr	rs952504991	missense variant	-	NC_000002.12:g.42767922C>T	TOPMed,gnomAD
HAAO	P46952	p.Tyr214Cys	rs113019865	missense variant	-	NC_000002.12:g.42767918T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly215Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42767915C>T	NCI-TCGA
HAAO	P46952	p.Gly217Arg	rs1239972712	missense variant	-	NC_000002.12:g.42767910C>G	TOPMed
HAAO	P46952	p.Ser219Gly	rs772732181	missense variant	-	NC_000002.12:g.42767904T>C	ExAC,gnomAD
HAAO	P46952	p.Glu220Asp	rs773842529	missense variant	-	NC_000002.12:g.42767899T>G	ExAC,gnomAD
HAAO	P46952	p.Glu220Lys	rs372852437	missense variant	-	NC_000002.12:g.42767901C>T	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly221Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42767897C>T	NCI-TCGA
HAAO	P46952	p.Gly221Ser	rs1443330447	missense variant	-	NC_000002.12:g.42767898C>T	TOPMed
HAAO	P46952	p.Leu222Met	rs200932461	missense variant	-	NC_000002.12:g.42767895G>T	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Leu222Val	rs200932461	missense variant	-	NC_000002.12:g.42767895G>C	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gln224His	rs547765342	missense variant	-	NC_000002.12:g.42767887C>G	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Asn225His	rs747294440	missense variant	-	NC_000002.12:g.42767886T>G	ExAC,gnomAD
HAAO	P46952	p.Val226Glu	COSM419167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767882A>T	NCI-TCGA Cosmic
HAAO	P46952	p.Val228Met	rs752749154	missense variant	-	NC_000002.12:g.42767877C>T	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Val228Ala	rs1431696583	missense variant	-	NC_000002.12:g.42767876A>G	TOPMed
HAAO	P46952	p.Trp229Leu	rs1290031051	missense variant	-	NC_000002.12:g.42767873C>A	gnomAD
HAAO	P46952	p.Trp231Cys	rs1353902871	missense variant	-	NC_000002.12:g.42767866C>A	gnomAD
HAAO	P46952	p.Trp231Gly	rs1229645746	missense variant	-	NC_000002.12:g.42767868A>C	gnomAD
HAAO	P46952	p.Gln232Ter	rs1293051118	stop gained	-	NC_000002.12:g.42767865G>A	TOPMed,gnomAD
HAAO	P46952	p.Glu234Asp	rs1430279444	missense variant	-	NC_000002.12:g.42767675C>A	TOPMed
HAAO	P46952	p.Gly235Asp	rs1266608424	missense variant	-	NC_000002.12:g.42767673C>T	gnomAD
HAAO	P46952	p.Gly235Ser	rs34053133	missense variant	-	NC_000002.12:g.42767674C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly235Arg	rs34053133	missense variant	-	NC_000002.12:g.42767674C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ser236Phe	rs893022311	missense variant	-	NC_000002.12:g.42767670G>A	TOPMed
HAAO	P46952	p.Ser237Leu	rs866479379	missense variant	-	NC_000002.12:g.42767667G>A	gnomAD
HAAO	P46952	p.Thr240Lys	rs1370308433	missense variant	-	NC_000002.12:g.42767658G>T	TOPMed,gnomAD
HAAO	P46952	p.Thr240Ile	rs1370308433	missense variant	-	NC_000002.12:g.42767658G>A	TOPMed,gnomAD
HAAO	P46952	p.Met241Ile	rs763755055	missense variant	-	NC_000002.12:g.42767654C>T	ExAC,gnomAD
HAAO	P46952	p.Met241Thr	rs1437543237	missense variant	-	NC_000002.12:g.42767655A>G	gnomAD
HAAO	P46952	p.Met241Val	rs1298474441	missense variant	-	NC_000002.12:g.42767656T>C	gnomAD
HAAO	P46952	p.Met241Ile	rs763755055	missense variant	-	NC_000002.12:g.42767654C>G	ExAC,gnomAD
HAAO	P46952	p.Gly242Trp	rs570913602	missense variant	-	NC_000002.12:g.42767653C>A	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly242Arg	rs570913602	missense variant	-	NC_000002.12:g.42767653C>G	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly243AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.42767649C>-	NCI-TCGA
HAAO	P46952	p.Gly243Arg	rs528800387	missense variant	-	NC_000002.12:g.42767650C>T	gnomAD
HAAO	P46952	p.Gly243Glu	rs1359634735	missense variant	-	NC_000002.12:g.42767649C>T	gnomAD
HAAO	P46952	p.Arg244Gln	rs553933735	missense variant	-	NC_000002.12:g.42767646C>T	1000Genomes,ExAC,gnomAD
HAAO	P46952	p.Arg244Trp	rs200847909	missense variant	-	NC_000002.12:g.42767647G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg245Cys	rs202048095	missense variant	-	NC_000002.12:g.42767644G>A	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg245His	rs1045453685	missense variant	-	NC_000002.12:g.42767643C>T	TOPMed,gnomAD
HAAO	P46952	p.Leu246Val	rs774539107	missense variant	-	NC_000002.12:g.42767641G>C	ExAC
HAAO	P46952	p.Ser247Gly	rs1483796382	missense variant	-	NC_000002.12:g.42767638T>C	TOPMed,gnomAD
HAAO	P46952	p.Ser247Thr	rs768805615	missense variant	-	NC_000002.12:g.42767637C>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ser247Arg	rs1208602506	missense variant	-	NC_000002.12:g.42767636G>C	gnomAD
HAAO	P46952	p.Ala249Ser	rs749371053	missense variant	-	NC_000002.12:g.42767632C>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Asp251Glu	rs1041004137	missense variant	-	NC_000002.12:g.42767624A>T	TOPMed,gnomAD
HAAO	P46952	p.Asp251Glu	COSM3839549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767624A>C	NCI-TCGA Cosmic
HAAO	P46952	p.Asp252Asn	rs747520560	missense variant	-	NC_000002.12:g.42767623C>T	gnomAD
HAAO	P46952	p.Asp252Tyr	rs747520560	missense variant	-	NC_000002.12:g.42767623C>A	gnomAD
HAAO	P46952	p.Leu255Pro	rs1195442031	missense variant	-	NC_000002.12:g.42767613A>G	TOPMed
HAAO	P46952	p.Val256Met	rs1197421049	missense variant	-	NC_000002.12:g.42767611C>T	TOPMed,gnomAD
HAAO	P46952	p.Gly259Trp	COSM295221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767602C>A	NCI-TCGA Cosmic
HAAO	P46952	p.Thr260Ile	rs1308039334	missense variant	-	NC_000002.12:g.42767598G>A	gnomAD
HAAO	P46952	p.Ser261Trp	rs534302281	missense variant	-	NC_000002.12:g.42767595G>C	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Ser261Leu	rs534302281	missense variant	-	NC_000002.12:g.42767595G>A	1000Genomes,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Tyr262Ter	rs1249889459	stop gained	-	NC_000002.12:g.42767512A>T	gnomAD
HAAO	P46952	p.Ala263Ser	rs1210520800	missense variant	-	NC_000002.12:g.42767511C>A	TOPMed,gnomAD
HAAO	P46952	p.Trp264Ter	rs146242229	stop gained	-	NC_000002.12:g.42767507C>T	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Trp264Ser	rs146242229	missense variant	-	NC_000002.12:g.42767507C>G	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Trp264Gly	rs745855441	missense variant	-	NC_000002.12:g.42767508A>C	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Glu265Gly	rs1333851493	missense variant	-	NC_000002.12:g.42767504T>C	gnomAD
HAAO	P46952	p.Arg266Ter	rs757076673	stop gained	-	NC_000002.12:g.42767502G>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg266Pro	rs78588034	missense variant	-	NC_000002.12:g.42767501C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Arg266Gln	rs78588034	missense variant	-	NC_000002.12:g.42767501C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Thr267Ile	rs1333968383	missense variant	-	NC_000002.12:g.42767498G>A	gnomAD
HAAO	P46952	p.Gln268Ter	rs777663987	stop gained	-	NC_000002.12:g.42767496G>A	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly269Asp	rs1388817588	missense variant	-	NC_000002.12:g.42767492C>T	TOPMed
HAAO	P46952	p.Ser270Ala	rs764720518	missense variant	-	NC_000002.12:g.42767490A>C	ExAC,gnomAD
HAAO	P46952	p.Ser270Phe	COSM74858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767489G>A	NCI-TCGA Cosmic
HAAO	P46952	p.Ala272Thr	rs1460644454	missense variant	-	NC_000002.12:g.42767484C>T	gnomAD
HAAO	P46952	p.Thr276Ile	rs753225304	missense variant	-	NC_000002.12:g.42767471G>A	ExAC,gnomAD
HAAO	P46952	p.Thr276Ala	rs201387643	missense variant	-	NC_000002.12:g.42767472T>C	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gln277Arg	rs1199617692	missense variant	-	NC_000002.12:g.42767468T>C	gnomAD
HAAO	P46952	p.Gln277His	rs768070145	missense variant	-	NC_000002.12:g.42767467C>G	ExAC,gnomAD
HAAO	P46952	p.Ala280Val	rs751940347	missense variant	-	NC_000002.12:g.42767459G>A	ExAC,gnomAD
HAAO	P46952	p.Cys281Gly	rs775680087	missense variant	-	NC_000002.12:g.42767457A>C	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Cys281Arg	rs775680087	missense variant	-	NC_000002.12:g.42767457A>G	ExAC,TOPMed,gnomAD
HAAO	P46952	p.Cys281Tyr	rs1210372372	missense variant	-	NC_000002.12:g.42767456C>T	gnomAD
HAAO	P46952	p.Lys282Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42767452C>A	NCI-TCGA
HAAO	P46952	p.Lys282Arg	rs769854329	missense variant	-	NC_000002.12:g.42767453T>C	ExAC,gnomAD
HAAO	P46952	p.Pro284Leu	rs1471738827	missense variant	-	NC_000002.12:g.42767447G>A	gnomAD
HAAO	P46952	p.Pro284Ala	COSM3991313	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42767448G>C	NCI-TCGA Cosmic
HAAO	P46952	p.Gly286Glu	rs200552980	missense variant	-	NC_000002.12:g.42767441C>T	ESP,ExAC,TOPMed,gnomAD
HAAO	P46952	p.Gly286Arg	rs1365484168	missense variant	-	NC_000002.12:g.42767442C>G	gnomAD
HAAO	P46952	p.Gly286Val	rs200552980	missense variant	-	NC_000002.12:g.42767441C>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Thr3Ser	rs1231761763	missense variant	-	NC_000015.10:g.100879915C>G	gnomAD
ALDH1A3	P47895	p.Thr3Ile	rs1231761763	missense variant	-	NC_000015.10:g.100879915C>T	gnomAD
ALDH1A3	P47895	p.Ala4Ser	rs1257833180	missense variant	-	NC_000015.10:g.100879917G>T	gnomAD
ALDH1A3	P47895	p.Gly6Arg	rs990181521	missense variant	-	NC_000015.10:g.100879923G>C	TOPMed,gnomAD
ALDH1A3	P47895	p.Ala7Pro	rs759448819	missense variant	-	NC_000015.10:g.100879926G>C	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ala7Ser	rs759448819	missense variant	-	NC_000015.10:g.100879926G>T	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Glu9Gly	rs946141965	missense variant	-	NC_000015.10:g.100879933A>G	TOPMed,gnomAD
ALDH1A3	P47895	p.Glu9Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100879934A>C	NCI-TCGA
ALDH1A3	P47895	p.Glu9Val	rs946141965	missense variant	-	NC_000015.10:g.100879933A>T	TOPMed,gnomAD
ALDH1A3	P47895	p.Asn10Lys	rs1205499955	missense variant	-	NC_000015.10:g.100879937C>G	TOPMed
ALDH1A3	P47895	p.Asn10Asp	rs1041851256	missense variant	-	NC_000015.10:g.100879935A>G	TOPMed
ALDH1A3	P47895	p.Gly11Ala	rs1262223424	missense variant	-	NC_000015.10:g.100879939G>C	gnomAD
ALDH1A3	P47895	p.Pro13Arg	rs1378582128	missense variant	-	NC_000015.10:g.100879945C>G	TOPMed,gnomAD
ALDH1A3	P47895	p.Pro13Ser	rs1432494592	missense variant	-	NC_000015.10:g.100879944C>T	gnomAD
ALDH1A3	P47895	p.Asp14Asn	rs933582510	missense variant	-	NC_000015.10:g.100879947G>A	TOPMed
ALDH1A3	P47895	p.Asp14Tyr	rs933582510	missense variant	-	NC_000015.10:g.100879947G>T	TOPMed
ALDH1A3	P47895	p.Arg15Gly	rs1130737	missense variant	-	NC_000015.10:g.100879950A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Arg15Gly	RCV000651064	missense variant	Microphthalmia, isolated 8 (MCOP8)	NC_000015.10:g.100879950A>G	ClinVar
ALDH1A3	P47895	p.Arg15Lys	rs1307594804	missense variant	-	NC_000015.10:g.100879951G>A	TOPMed
ALDH1A3	P47895	p.Lys16Glu	rs1396346512	missense variant	-	NC_000015.10:g.100879953A>G	gnomAD
ALDH1A3	P47895	p.Pro17Leu	rs878949825	missense variant	-	NC_000015.10:g.100879957C>T	TOPMed
ALDH1A3	P47895	p.Pro17Ser	rs1434812610	missense variant	-	NC_000015.10:g.100879956C>T	gnomAD
ALDH1A3	P47895	p.Pro18Ala	rs1372443023	missense variant	-	NC_000015.10:g.100879959C>G	TOPMed
ALDH1A3	P47895	p.Pro18Arg	rs1301191364	missense variant	-	NC_000015.10:g.100879960C>G	TOPMed
ALDH1A3	P47895	p.Leu20Val	rs888762943	missense variant	-	NC_000015.10:g.100879965C>G	TOPMed
ALDH1A3	P47895	p.Pro21Arg	rs1178227946	missense variant	-	NC_000015.10:g.100879969C>G	TOPMed
ALDH1A3	P47895	p.Arg22Pro	rs1005917805	missense variant	-	NC_000015.10:g.100879972G>C	TOPMed,gnomAD
ALDH1A3	P47895	p.Arg22His	rs1005917805	missense variant	-	NC_000015.10:g.100879972G>A	TOPMed,gnomAD
ALDH1A3	P47895	p.Ile24Thr	rs1367431064	missense variant	-	NC_000015.10:g.100879978T>C	TOPMed,gnomAD
ALDH1A3	P47895	p.Ile24Met	rs1385585676	missense variant	-	NC_000015.10:g.100879979C>G	gnomAD
ALDH1A3	P47895	p.Arg25His	rs1348601584	missense variant	-	NC_000015.10:g.100879981G>A	gnomAD
ALDH1A3	P47895	p.Arg25Gly	rs1306289893	missense variant	-	NC_000015.10:g.100879980C>G	gnomAD
ALDH1A3	P47895	p.Asn26His	rs1464920497	missense variant	-	NC_000015.10:g.100879983A>C	TOPMed,gnomAD
ALDH1A3	P47895	p.Glu28Lys	rs1199364536	missense variant	-	NC_000015.10:g.100879989G>A	TOPMed
ALDH1A3	P47895	p.Val29Ile	rs573413093	missense variant	-	NC_000015.10:g.100879992G>A	1000Genomes
ALDH1A3	P47895	p.Phe31Tyr	rs1284083379	missense variant	-	NC_000015.10:g.100879999T>A	TOPMed,gnomAD
ALDH1A3	P47895	p.Lys33Asn	COSM1323739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100880006G>C	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Lys33Arg	rs1216823046	missense variant	-	NC_000015.10:g.100880005A>G	gnomAD
ALDH1A3	P47895	p.Ile36Val	rs776335874	missense variant	-	NC_000015.10:g.100885273A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Asn37Ser	rs745641363	missense variant	-	NC_000015.10:g.100885277A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Asn37Ile	rs745641363	missense variant	-	NC_000015.10:g.100885277A>T	ExAC,gnomAD
ALDH1A3	P47895	p.His41Gln	rs2229182	missense variant	-	NC_000015.10:g.100885290C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Glu42Lys	rs775523430	missense variant	-	NC_000015.10:g.100885291G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Glu42AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.100885291G>-	NCI-TCGA
ALDH1A3	P47895	p.Glu42Ala	rs182607536	missense variant	-	NC_000015.10:g.100885292A>C	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Lys44Arg	rs767590571	missense variant	-	NC_000015.10:g.100885298A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Lys44Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100885299G>T	NCI-TCGA
ALDH1A3	P47895	p.Lys44Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100885299G>C	NCI-TCGA
ALDH1A3	P47895	p.Ser45Ile	rs1385170528	missense variant	-	NC_000015.10:g.100885301G>T	TOPMed
ALDH1A3	P47895	p.Lys47Glu	COSM1128151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100885306A>G	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Thr51Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100885319C>T	NCI-TCGA
ALDH1A3	P47895	p.Thr51Ala	rs760946044	missense variant	-	NC_000015.10:g.100885318A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Cys52Phe	rs370256420	missense variant	-	NC_000015.10:g.100885322G>T	ESP,ExAC,gnomAD
ALDH1A3	P47895	p.Arg57Trp	rs531080485	missense variant	-	NC_000015.10:g.100885336C>T	1000Genomes
ALDH1A3	P47895	p.Arg57Pro	rs141876599	missense variant	-	NC_000015.10:g.100885337G>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Arg57Gln	rs141876599	missense variant	-	NC_000015.10:g.100885337G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Glu58Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100885339G>A	NCI-TCGA
ALDH1A3	P47895	p.Ile60Met	rs1257789745	missense variant	-	NC_000015.10:g.100885347A>G	gnomAD
ALDH1A3	P47895	p.Cys61Ser	rs753250374	missense variant	-	NC_000015.10:g.100885349G>C	ExAC,gnomAD
ALDH1A3	P47895	p.Glu62Ter	rs1191459372	stop gained	-	NC_000015.10:g.100885351G>T	TOPMed,gnomAD
ALDH1A3	P47895	p.Glu62Lys	rs1191459372	missense variant	-	NC_000015.10:g.100885351G>A	TOPMed,gnomAD
ALDH1A3	P47895	p.Glu62Gln	rs1191459372	missense variant	-	NC_000015.10:g.100885351G>C	TOPMed,gnomAD
ALDH1A3	P47895	p.Glu62Ter	RCV000597126	nonsense	-	NC_000015.10:g.100885351G>T	ClinVar
ALDH1A3	P47895	p.Val63Leu	rs758966858	missense variant	-	NC_000015.10:g.100885354G>T	ExAC,gnomAD
ALDH1A3	P47895	p.Val63Leu	rs758966858	missense variant	-	NC_000015.10:g.100885354G>T	NCI-TCGA
ALDH1A3	P47895	p.Val71Met	rs386834230	missense variant	-	NC_000015.10:g.100887578G>A	TOPMed
ALDH1A3	P47895	p.Val71Met	rs386834230	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100887578G>A	UniProt,dbSNP
ALDH1A3	P47895	p.Val71Met	VAR_072332	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100887578G>A	UniProt
ALDH1A3	P47895	p.Val71Met	RCV000128477	missense variant	-	NC_000015.10:g.100887578G>A	ClinVar
ALDH1A3	P47895	p.Lys73Gln	rs752987966	missense variant	-	NC_000015.10:g.100887584A>C	ExAC,gnomAD
ALDH1A3	P47895	p.Ala78Thr	rs1043418205	missense variant	-	NC_000015.10:g.100887599G>A	TOPMed,gnomAD
ALDH1A3	P47895	p.Ala81Thr	COSM3499710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100887608G>A	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Arg84Gly	rs369355060	missense variant	-	NC_000015.10:g.100887617A>G	ESP,TOPMed
ALDH1A3	P47895	p.Gly85Ser	rs763601560	missense variant	-	NC_000015.10:g.100887620G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ser86Leu	COSM1244814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100887624C>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Trp88Ser	rs1368725893	missense variant	-	NC_000015.10:g.100887630G>C	gnomAD
ALDH1A3	P47895	p.Arg89Pro	rs780514656	missense variant	-	NC_000015.10:g.100887633G>C	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Arg89Cys	rs397514652	missense variant	-	NC_000015.10:g.100887632C>T	NCI-TCGA,NCI-TCGA Cosmic
ALDH1A3	P47895	p.Arg89Cys	rs397514652	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100887632C>T	UniProt,dbSNP
ALDH1A3	P47895	p.Arg89Cys	VAR_069322	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100887632C>T	UniProt
ALDH1A3	P47895	p.Arg89Cys	rs397514652	missense variant	-	NC_000015.10:g.100887632C>T	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Arg89His	rs780514656	missense variant	-	NC_000015.10:g.100887633G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Arg89Cys	RCV000033221	missense variant	Microphthalmia, isolated 8 (MCOP8)	NC_000015.10:g.100887632C>T	ClinVar
ALDH1A3	P47895	p.Arg90Gln	rs750097418	missense variant	-	NC_000015.10:g.100887636G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Arg90Trp	rs1375594080	missense variant	-	NC_000015.10:g.100887635C>T	gnomAD
ALDH1A3	P47895	p.Asp92Gly	rs1351802284	missense variant	-	NC_000015.10:g.100887642A>G	gnomAD
ALDH1A3	P47895	p.Ala93Ser	rs1442316583	missense variant	-	NC_000015.10:g.100887644G>T	gnomAD
ALDH1A3	P47895	p.Arg96Cys	rs779960062	missense variant	-	NC_000015.10:g.100887653C>T	ExAC,gnomAD
ALDH1A3	P47895	p.Arg96His	rs1470193684	missense variant	-	NC_000015.10:g.100887654G>A	gnomAD
ALDH1A3	P47895	p.Gly97Glu	rs1211562776	missense variant	-	NC_000015.10:g.100887657G>A	TOPMed
ALDH1A3	P47895	p.Arg98Trp	rs199537142	missense variant	-	NC_000015.10:g.100887659C>T	NCI-TCGA,NCI-TCGA Cosmic
ALDH1A3	P47895	p.Arg98Trp	rs199537142	missense variant	-	NC_000015.10:g.100887659C>T	ESP,gnomAD
ALDH1A3	P47895	p.Arg98Gln	rs879212373	missense variant	-	NC_000015.10:g.100887660G>A	TOPMed,gnomAD
ALDH1A3	P47895	p.Glu108Lys	rs768621637	missense variant	-	NC_000015.10:g.100887689G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Arg111Cys	rs1392105920	missense variant	-	NC_000015.10:g.100887698C>T	gnomAD
ALDH1A3	P47895	p.Ala112Thr	rs370671214	missense variant	-	NC_000015.10:g.100887701G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Thr113Ala	rs776567475	missense variant	-	NC_000015.10:g.100887704A>G	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Thr113Ser	rs1389212248	missense variant	-	NC_000015.10:g.100887705C>G	gnomAD
ALDH1A3	P47895	p.Leu114Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100887709G>T	NCI-TCGA
ALDH1A3	P47895	p.Ala115Thr	rs1330418184	missense variant	-	NC_000015.10:g.100887710G>A	gnomAD
ALDH1A3	P47895	p.Ala116Thr	rs1310107329	missense variant	-	NC_000015.10:g.100892510G>A	TOPMed,gnomAD
ALDH1A3	P47895	p.Thr119Met	rs1188366940	missense variant	-	NC_000015.10:g.100892520C>T	gnomAD
ALDH1A3	P47895	p.Met120Thr	rs1376580832	missense variant	-	NC_000015.10:g.100892523T>C	TOPMed
ALDH1A3	P47895	p.Met120Val	rs1426662625	missense variant	-	NC_000015.10:g.100892522A>G	gnomAD
ALDH1A3	P47895	p.Asp121Asn	rs775873830	missense variant	-	NC_000015.10:g.100892525G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Thr122Ala	rs1373091248	missense variant	-	NC_000015.10:g.100892528A>G	TOPMed,gnomAD
ALDH1A3	P47895	p.Phe126Leu	rs769150775	missense variant	-	NC_000015.10:g.100892540T>C	ExAC,gnomAD
ALDH1A3	P47895	p.Phe126Cys	COSM959587	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892541T>G	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Phe126Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100892540T>A	NCI-TCGA
ALDH1A3	P47895	p.Leu127Phe	rs1434999709	missense variant	-	NC_000015.10:g.100892543C>T	gnomAD
ALDH1A3	P47895	p.His128Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100892546C>G	NCI-TCGA
ALDH1A3	P47895	p.His128Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100892547A>C	NCI-TCGA
ALDH1A3	P47895	p.Phe130Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100892553T>G	NCI-TCGA
ALDH1A3	P47895	p.Phe131Ser	rs1384362141	missense variant	-	NC_000015.10:g.100892556T>C	gnomAD
ALDH1A3	P47895	p.Ile132Val	rs142560469	missense variant	-	NC_000015.10:g.100892558A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ile132HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.100892550_100892551insT	NCI-TCGA
ALDH1A3	P47895	p.Asp133Asn	rs772819081	missense variant	-	NC_000015.10:g.100892561G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Asp133Glu	rs1282628739	missense variant	-	NC_000015.10:g.100892563C>A	gnomAD
ALDH1A3	P47895	p.Glu135Asp	rs1437673020	missense variant	-	NC_000015.10:g.100892569G>C	TOPMed
ALDH1A3	P47895	p.Glu135Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100892569G>T	NCI-TCGA
ALDH1A3	P47895	p.Glu135Lys	rs373337351	missense variant	-	NC_000015.10:g.100892567G>A	ESP
ALDH1A3	P47895	p.Thr140Ser	rs765816810	missense variant	-	NC_000015.10:g.100892583C>G	ExAC,gnomAD
ALDH1A3	P47895	p.Phe144Tyr	rs200486213	missense variant	-	NC_000015.10:g.100892595T>A	1000Genomes,TOPMed,gnomAD
ALDH1A3	P47895	p.Phe144Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100892595T>C	NCI-TCGA
ALDH1A3	P47895	p.Ala145Val	rs754619607	missense variant	-	NC_000015.10:g.100892598C>T	ExAC,gnomAD
ALDH1A3	P47895	p.Ala145Val	rs754619607	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100892598C>T	UniProt,dbSNP
ALDH1A3	P47895	p.Ala145Val	VAR_069323	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100892598C>T	UniProt
ALDH1A3	P47895	p.Gly146Trp	COSM3401585	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892600G>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Gly146Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100892601G>T	NCI-TCGA
ALDH1A3	P47895	p.Trp147Arg	COSM4053448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892603T>C	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Trp147Ter	rs1262377795	stop gained	-	NC_000015.10:g.100892604G>A	gnomAD
ALDH1A3	P47895	p.Ala148Ser	rs765072555	missense variant	-	NC_000015.10:g.100892606G>T	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ala148Thr	rs765072555	missense variant	-	NC_000015.10:g.100892606G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asp149Glu	rs918956199	missense variant	-	NC_000015.10:g.100892611C>A	gnomAD
ALDH1A3	P47895	p.Thr155Ser	rs201931276	missense variant	-	NC_000015.10:g.100892628C>G	1000Genomes,ExAC,gnomAD
ALDH1A3	P47895	p.Ile156Val	rs113686214	missense variant	-	NC_000015.10:g.100892630A>G	1000Genomes,TOPMed,gnomAD
ALDH1A3	P47895	p.Ile156Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100892631T>G	NCI-TCGA
ALDH1A3	P47895	p.Asp159Tyr	COSM1375677	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892639G>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Asp159Glu	rs753948027	missense variant	-	NC_000015.10:g.100892946T>G	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Val162Ala	rs538933495	missense variant	-	NC_000015.10:g.100892954T>C	1000Genomes
ALDH1A3	P47895	p.Val162Ile	rs748353857	missense variant	-	NC_000015.10:g.100892953G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Val163Leu	rs150542846	missense variant	-	NC_000015.10:g.100892956G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Val163Met	rs150542846	missense variant	-	NC_000015.10:g.100892956G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Phe165Ile	COSM554357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100892962T>A	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Thr166Ile	rs1333967844	missense variant	-	NC_000015.10:g.100892966C>T	gnomAD
ALDH1A3	P47895	p.His168Tyr	rs1320921361	missense variant	-	NC_000015.10:g.100892971C>T	TOPMed
ALDH1A3	P47895	p.His168Arg	rs776156229	missense variant	-	NC_000015.10:g.100892972A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Pro170Ala	rs769240976	missense variant	-	NC_000015.10:g.100892977C>G	ExAC,gnomAD
ALDH1A3	P47895	p.Pro170Ser	rs769240976	missense variant	-	NC_000015.10:g.100892977C>T	ExAC,gnomAD
ALDH1A3	P47895	p.Ile171Thr	rs763866352	missense variant	-	NC_000015.10:g.100892981T>C	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Cys174Tyr	VAR_072333	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
ALDH1A3	P47895	p.Thr178Ile	rs1165860288	missense variant	-	NC_000015.10:g.100893002C>T	TOPMed
ALDH1A3	P47895	p.Trp180Ter	COSM3815661	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.100893955G>A	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Phe182Leu	rs747235458	missense variant	-	NC_000015.10:g.100893960T>C	TOPMed
ALDH1A3	P47895	p.Phe182Val	rs747235458	missense variant	-	NC_000015.10:g.100893960T>G	TOPMed
ALDH1A3	P47895	p.Phe182Leu	rs774058525	missense variant	-	NC_000015.10:g.100893962C>G	ExAC,gnomAD
ALDH1A3	P47895	p.Phe182Ile	rs747235458	missense variant	-	NC_000015.10:g.100893960T>A	TOPMed
ALDH1A3	P47895	p.Pro183Ser	rs1185347047	missense variant	-	NC_000015.10:g.100893963C>T	gnomAD
ALDH1A3	P47895	p.Leu187Met	COSM4053450	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100893975C>A	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Ala194Thr	rs773297753	missense variant	-	NC_000015.10:g.100893996G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Cys197Tyr	rs1363406619	missense variant	-	NC_000015.10:g.100894006G>A	gnomAD
ALDH1A3	P47895	p.Cys197Trp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100894007T>G	NCI-TCGA
ALDH1A3	P47895	p.Gly198Arg	rs374423113	missense variant	-	NC_000015.10:g.100894008G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Thr200Ala	rs758588507	missense variant	-	NC_000015.10:g.100894014A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Gln208Glu	rs1279770496	missense variant	-	NC_000015.10:g.100894038C>G	gnomAD
ALDH1A3	P47895	p.Ala213Thr	rs371736673	missense variant	-	NC_000015.10:g.100894053G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Leu216Val	rs746443493	missense variant	-	NC_000015.10:g.100894062C>G	ExAC,gnomAD
ALDH1A3	P47895	p.Gly217Ser	rs371815578	missense variant	-	NC_000015.10:g.100894065G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ser218Phe	rs768011838	missense variant	-	NC_000015.10:g.100894069C>T	ExAC,gnomAD
ALDH1A3	P47895	p.Glu222Asp	rs1039557539	missense variant	-	NC_000015.10:g.100894082G>T	TOPMed,gnomAD
ALDH1A3	P47895	p.Glu222Ter	COSM3420174	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.100894080G>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Glu222Gly	rs774076435	missense variant	-	NC_000015.10:g.100894081A>G	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ala223Ser	rs1330255150	missense variant	-	NC_000015.10:g.100895933G>T	gnomAD
ALDH1A3	P47895	p.Gly224Arg	rs377673187	missense variant	-	NC_000015.10:g.100895936G>A	ESP,ExAC,gnomAD
ALDH1A3	P47895	p.Pro226Ser	COSM3886693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100895942C>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Pro227Thr	rs1408573428	missense variant	-	NC_000015.10:g.100895945C>A	TOPMed
ALDH1A3	P47895	p.Val229Ala	rs1210490747	missense variant	-	NC_000015.10:g.100895952T>C	gnomAD
ALDH1A3	P47895	p.Val230Met	rs1249962025	missense variant	-	NC_000015.10:g.100895954G>A	gnomAD
ALDH1A3	P47895	p.Ile232Val	rs1184323924	missense variant	-	NC_000015.10:g.100895960A>G	gnomAD
ALDH1A3	P47895	p.Gly235Ala	rs1253636239	missense variant	-	NC_000015.10:g.100895970G>C	gnomAD
ALDH1A3	P47895	p.Phe236Leu	rs141807607	missense variant	-	NC_000015.10:g.100895974C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Gly237Arg	rs1164081840	missense variant	-	NC_000015.10:g.100895975G>A	TOPMed,gnomAD
ALDH1A3	P47895	p.Pro238Arg	rs768844900	missense variant	-	NC_000015.10:g.100895979C>G	ExAC
ALDH1A3	P47895	p.Val240Ala	rs762074128	missense variant	-	NC_000015.10:g.100895985T>C	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Gly241Arg	rs750607041	missense variant	-	NC_000015.10:g.100895987G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Ser245Tyr	rs766595446	missense variant	-	NC_000015.10:g.100896000C>A	ExAC,gnomAD
ALDH1A3	P47895	p.His247Tyr	rs754376404	missense variant	-	NC_000015.10:g.100896005C>T	ExAC,gnomAD
ALDH1A3	P47895	p.Pro248Ser	rs1007040444	missense variant	-	NC_000015.10:g.100896008C>T	TOPMed
ALDH1A3	P47895	p.Pro248Ala	rs1007040444	missense variant	-	NC_000015.10:g.100896008C>G	TOPMed
ALDH1A3	P47895	p.Gln249His	COSM6141658	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100896013G>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Gln249Arg	rs542329656	missense variant	-	NC_000015.10:g.100896012A>G	1000Genomes,ExAC,gnomAD
ALDH1A3	P47895	p.Asn251Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100896017A>G	NCI-TCGA
ALDH1A3	P47895	p.Lys252Glu	rs757942198	missense variant	-	NC_000015.10:g.100896020A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Ile253Met	rs777590260	missense variant	-	NC_000015.10:g.100896025C>G	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ala254Thr	rs746580920	missense variant	-	NC_000015.10:g.100896026G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Thr256Ser	rs780841932	missense variant	-	NC_000015.10:g.100896033C>G	ExAC,gnomAD
ALDH1A3	P47895	p.Thr256Ala	rs563737845	missense variant	-	NC_000015.10:g.100896032A>G	1000Genomes,ExAC,gnomAD
ALDH1A3	P47895	p.Gly257Ser	rs1464928654	missense variant	-	NC_000015.10:g.100896035G>A	TOPMed
ALDH1A3	P47895	p.Ser258Thr	rs1186920713	missense variant	-	NC_000015.10:g.100896038T>A	gnomAD
ALDH1A3	P47895	p.Thr259Lys	rs1425470624	missense variant	-	NC_000015.10:g.100896042C>A	gnomAD
ALDH1A3	P47895	p.Glu260Val	rs1354785586	missense variant	-	NC_000015.10:g.100896045A>T	TOPMed
ALDH1A3	P47895	p.Glu260Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100896046G>C	NCI-TCGA
ALDH1A3	P47895	p.Lys263Asn	rs1383412781	missense variant	-	NC_000015.10:g.100898091A>T	gnomAD
ALDH1A3	P47895	p.Lys263Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100898089A>C	NCI-TCGA
ALDH1A3	P47895	p.Leu264Arg	rs1437983551	missense variant	-	NC_000015.10:g.100898093T>G	TOPMed,gnomAD
ALDH1A3	P47895	p.Ala269Val	rs539827030	missense variant	-	NC_000015.10:g.100898108C>T	1000Genomes,ExAC,gnomAD
ALDH1A3	P47895	p.Arg271Gln	rs147665432	missense variant	-	NC_000015.10:g.100898114G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Arg271Trp	rs771026331	missense variant	-	NC_000015.10:g.100898113C>T	ExAC,gnomAD
ALDH1A3	P47895	p.Arg271Pro	rs147665432	missense variant	-	NC_000015.10:g.100898114G>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asn273Ser	rs765639453	missense variant	-	NC_000015.10:g.100898120A>G	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Arg276Gly	rs776141464	missense variant	-	NC_000015.10:g.100898128C>G	ExAC,gnomAD
ALDH1A3	P47895	p.Arg276Pro	rs763546758	missense variant	-	NC_000015.10:g.100898129G>C	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Arg276Gln	rs763546758	missense variant	-	NC_000015.10:g.100898129G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Val277Glu	COSM4053452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100898132T>A	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Thr278Met	rs567004839	missense variant	-	NC_000015.10:g.100898135C>T	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Leu281Pro	rs1422581541	missense variant	-	NC_000015.10:g.100898144T>C	TOPMed
ALDH1A3	P47895	p.Gly282Val	rs547918064	missense variant	-	NC_000015.10:g.100898147G>T	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Gly282Trp	rs767109721	missense variant	-	NC_000015.10:g.100898146G>T	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Gly282Ala	rs547918064	missense variant	-	NC_000015.10:g.100898147G>C	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Gly282Arg	rs767109721	missense variant	-	NC_000015.10:g.100898146G>C	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Gly282Arg	rs767109721	missense variant	-	NC_000015.10:g.100898146G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Gly282Glu	rs547918064	missense variant	-	NC_000015.10:g.100898147G>A	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Gly282Glu	RCV000493670	missense variant	-	NC_000015.10:g.100898147G>A	ClinVar
ALDH1A3	P47895	p.Gly283Arg	rs749291480	missense variant	-	NC_000015.10:g.100898149G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Lys284Met	rs931629498	missense variant	-	NC_000015.10:g.100898153A>T	TOPMed,gnomAD
ALDH1A3	P47895	p.Lys284ArgPheSerTerUnkUnk	COSM1375680	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.100898145G>-	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Lys284Arg	rs931629498	missense variant	-	NC_000015.10:g.100898153A>G	TOPMed,gnomAD
ALDH1A3	P47895	p.Pro286Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100898159C>G	NCI-TCGA
ALDH1A3	P47895	p.Cys287Gly	rs1393774987	missense variant	-	NC_000015.10:g.100898161T>G	gnomAD
ALDH1A3	P47895	p.Ile288Val	rs776731020	missense variant	-	NC_000015.10:g.100898164A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Val289Leu	rs746016250	missense variant	-	NC_000015.10:g.100898167G>C	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Val289Met	rs746016250	missense variant	-	NC_000015.10:g.100898167G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ala291Val	rs770345049	missense variant	-	NC_000015.10:g.100898174C>T	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asp292Glu	COSM433592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100898178C>G	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Asp292Asn	rs1226878041	missense variant	-	NC_000015.10:g.100898176G>A	TOPMed
ALDH1A3	P47895	p.Ala293Thr	rs1036217972	missense variant	-	NC_000015.10:g.100898179G>A	gnomAD
ALDH1A3	P47895	p.Ala293Gly	rs1247389136	missense variant	-	NC_000015.10:g.100898180C>G	TOPMed,gnomAD
ALDH1A3	P47895	p.Asp296Asn	rs1409489382	missense variant	-	NC_000015.10:g.100900577G>A	gnomAD
ALDH1A3	P47895	p.Asp296Glu	rs1168542297	missense variant	-	NC_000015.10:g.100900579C>A	gnomAD
ALDH1A3	P47895	p.Glu300Val	rs774736590	missense variant	-	NC_000015.10:g.100900590A>T	ExAC,gnomAD
ALDH1A3	P47895	p.His303Tyr	rs373643477	missense variant	-	NC_000015.10:g.100900598C>T	ESP,ExAC,gnomAD
ALDH1A3	P47895	p.His303Gln	rs771549607	missense variant	-	NC_000015.10:g.100900600T>G	ExAC,gnomAD
ALDH1A3	P47895	p.Gln304Arg	rs772696922	missense variant	-	NC_000015.10:g.100900602A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Gly305Ala	rs918504278	missense variant	-	NC_000015.10:g.100900605G>C	TOPMed
ALDH1A3	P47895	p.Phe308Val	rs575483102	missense variant	-	NC_000015.10:g.100900613T>G	1000Genomes
ALDH1A3	P47895	p.Gln312Arg	rs1285915498	missense variant	-	NC_000015.10:g.100900626A>G	gnomAD
ALDH1A3	P47895	p.Cys314Ser	rs760371405	missense variant	-	NC_000015.10:g.100900632G>C	ExAC,gnomAD
ALDH1A3	P47895	p.Thr315Met	rs1358926550	missense variant	-	NC_000015.10:g.100900635C>T	TOPMed
ALDH1A3	P47895	p.Ala316Thr	rs1294814835	missense variant	-	NC_000015.10:g.100900637G>A	gnomAD
ALDH1A3	P47895	p.Val320GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.100900646_100900647insG	NCI-TCGA
ALDH1A3	P47895	p.Val322Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100900655G>A	NCI-TCGA
ALDH1A3	P47895	p.Glu323Gln	rs61624077	missense variant	-	NC_000015.10:g.100900658G>C	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Glu324Asp	rs991644861	missense variant	-	NC_000015.10:g.100900663G>C	TOPMed
ALDH1A3	P47895	p.Glu324Asp	rs991644861	missense variant	-	NC_000015.10:g.100900663G>T	TOPMed
ALDH1A3	P47895	p.Gln325Glu	rs1441057852	missense variant	-	NC_000015.10:g.100900664C>G	TOPMed,gnomAD
ALDH1A3	P47895	p.Gln325Ter	rs1441057852	stop gained	-	NC_000015.10:g.100900664C>T	TOPMed,gnomAD
ALDH1A3	P47895	p.Ser334Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100900692G>C	NCI-TCGA
ALDH1A3	P47895	p.Val335Met	rs923605749	missense variant	-	NC_000015.10:g.100900694G>A	TOPMed,gnomAD
ALDH1A3	P47895	p.Val335Ala	rs750497481	missense variant	-	NC_000015.10:g.100900695T>C	ExAC
ALDH1A3	P47895	p.Glu336Gln	rs756225681	missense variant	-	NC_000015.10:g.100900697G>C	ExAC,gnomAD
ALDH1A3	P47895	p.Glu336Lys	rs756225681	missense variant	-	NC_000015.10:g.100900697G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Ala338Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100900704C>A	NCI-TCGA
ALDH1A3	P47895	p.Ala338Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100900703G>A	NCI-TCGA
ALDH1A3	P47895	p.Lys339Arg	rs1394208472	missense variant	-	NC_000015.10:g.100900707A>G	TOPMed,gnomAD
ALDH1A3	P47895	p.Arg341Leu	COSM959595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100900713G>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Arg341Trp	rs780448831	missense variant	-	NC_000015.10:g.100900712C>T	ExAC,gnomAD
ALDH1A3	P47895	p.Val343Met	rs779331334	missense variant	-	NC_000015.10:g.100900718G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asp345Tyr	rs934989624	missense variant	-	NC_000015.10:g.100900724G>T	TOPMed
ALDH1A3	P47895	p.Pro346Thr	rs1431782689	missense variant	-	NC_000015.10:g.100900727C>A	TOPMed
ALDH1A3	P47895	p.Asp348Asn	rs772610695	missense variant	-	NC_000015.10:g.100900733G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asp348Tyr	rs772610695	missense variant	-	NC_000015.10:g.100900733G>T	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Val349Gly	rs1460856851	missense variant	-	NC_000015.10:g.100900737T>G	TOPMed
ALDH1A3	P47895	p.Val349Ile	rs1054126472	missense variant	-	NC_000015.10:g.100900736G>A	TOPMed
ALDH1A3	P47895	p.Gln353Arg	rs772750332	missense variant	-	NC_000015.10:g.100900749A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Gly354Val	COSM4053453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100900752G>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Pro355Leu	COSM259383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100900755C>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Pro355Arg	VAR_072334	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
ALDH1A3	P47895	p.Gln356Pro	rs1302281118	missense variant	-	NC_000015.10:g.100900758A>C	gnomAD
ALDH1A3	P47895	p.Ile357Thr	rs1324691550	missense variant	-	NC_000015.10:g.100905524T>C	gnomAD
ALDH1A3	P47895	p.Asp358His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100905526G>C	NCI-TCGA
ALDH1A3	P47895	p.Gln359Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.100905529C>T	NCI-TCGA
ALDH1A3	P47895	p.Phe362Leu	rs187280010	missense variant	-	NC_000015.10:g.100905540C>G	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asp363His	rs141839784	missense variant	-	NC_000015.10:g.100905541G>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asp363Asn	rs141839784	missense variant	-	NC_000015.10:g.100905541G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ile365Val	rs758652233	missense variant	-	NC_000015.10:g.100905547A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Leu368Pro	rs1016363724	missense variant	-	NC_000015.10:g.100905557T>C	TOPMed
ALDH1A3	P47895	p.Ile369Phe	VAR_069324	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
ALDH1A3	P47895	p.Glu370Lys	rs146286322	missense variant	-	NC_000015.10:g.100905562G>A	ESP,ExAC,gnomAD
ALDH1A3	P47895	p.Ser371Thr	rs1330483619	missense variant	-	NC_000015.10:g.100905566G>C	gnomAD
ALDH1A3	P47895	p.Lys374Thr	rs1213108723	missense variant	-	NC_000015.10:g.100905575A>C	gnomAD
ALDH1A3	P47895	p.Gly376Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100905580G>A	NCI-TCGA
ALDH1A3	P47895	p.Lys378Glu	rs1265436350	missense variant	-	NC_000015.10:g.100905586A>G	gnomAD
ALDH1A3	P47895	p.Cys381Trp	rs113661159	missense variant	-	NC_000015.10:g.100905597C>G	ESP,TOPMed,gnomAD
ALDH1A3	P47895	p.Gly382Trp	rs1199864354	missense variant	-	NC_000015.10:g.100905598G>T	gnomAD
ALDH1A3	P47895	p.Gly382Arg	VAR_072335	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
ALDH1A3	P47895	p.Gly383Asp	rs769454022	missense variant	-	NC_000015.10:g.100905602G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Met386Val	rs3803430	missense variant	-	NC_000015.10:g.100905610A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Met386Thr	rs762831163	missense variant	-	NC_000015.10:g.100905611T>C	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Met386Val	RCV000251319	missense variant	-	NC_000015.10:g.100905610A>G	ClinVar
ALDH1A3	P47895	p.Lys389Asn	rs774438420	missense variant	-	NC_000015.10:g.100905621G>C	ExAC,gnomAD
ALDH1A3	P47895	p.Lys389Gln	rs376953636	missense variant	-	NC_000015.10:g.100905619A>C	ESP,ExAC,gnomAD
ALDH1A3	P47895	p.Ile393Val	rs1323841997	missense variant	-	NC_000015.10:g.100905631A>G	gnomAD
ALDH1A3	P47895	p.Lys394Gln	rs1335492936	missense variant	-	NC_000015.10:g.100905634A>C	gnomAD
ALDH1A3	P47895	p.Val397Phe	rs1408365041	missense variant	-	NC_000015.10:g.100905643G>T	gnomAD
ALDH1A3	P47895	p.Arg406Gln	rs770610190	missense variant	-	NC_000015.10:g.100905671G>A	TOPMed,gnomAD
ALDH1A3	P47895	p.Arg406Trp	rs957737907	missense variant	-	NC_000015.10:g.100905670C>T	TOPMed,gnomAD
ALDH1A3	P47895	p.Lys409Arg	rs753936013	missense variant	-	NC_000015.10:g.100905680A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Lys409Thr	rs753936013	missense variant	-	NC_000015.10:g.100905680A>C	ExAC,gnomAD
ALDH1A3	P47895	p.Glu410Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100905684G>T	NCI-TCGA
ALDH1A3	P47895	p.Glu411Lys	VAR_072336	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
ALDH1A3	P47895	p.Ile412Met	COSM4053454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907123T>G	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Ile412Leu	rs1391125701	missense variant	-	NC_000015.10:g.100907121A>C	gnomAD
ALDH1A3	P47895	p.Gly414Ala	rs1256486119	missense variant	-	NC_000015.10:g.100907128G>C	TOPMed,gnomAD
ALDH1A3	P47895	p.Val416Met	rs755655303	missense variant	-	NC_000015.10:g.100907133G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Leu420Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100907145C>A	NCI-TCGA
ALDH1A3	P47895	p.Phe422Leu	COSM433593	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907153C>G	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Lys423Arg	rs749007363	missense variant	-	NC_000015.10:g.100907155A>G	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Lys423Glu	rs201386727	missense variant	-	NC_000015.10:g.100907154A>G	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ser424Gly	rs768405140	missense variant	-	NC_000015.10:g.100907157A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Ser424Asn	rs778895472	missense variant	-	NC_000015.10:g.100907158G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Glu426Lys	rs747991447	missense variant	-	NC_000015.10:g.100907163G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Val428Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100907169G>A	NCI-TCGA
ALDH1A3	P47895	p.Lys430Thr	COSM4838782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907176A>C	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Ala432Val	rs375918217	missense variant	-	NC_000015.10:g.100907182C>T	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asn433Ser	rs769972068	missense variant	-	NC_000015.10:g.100907185A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Asp436Asn	rs145630728	missense variant	-	NC_000015.10:g.100907193G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Tyr437His	rs1434995136	missense variant	-	NC_000015.10:g.100907196T>C	TOPMed
ALDH1A3	P47895	p.Tyr437Cys	rs369860247	missense variant	-	NC_000015.10:g.100907197A>G	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Leu439Pro	rs751729739	missense variant	-	NC_000015.10:g.100907203T>C	ExAC,gnomAD
ALDH1A3	P47895	p.Thr440Ile	rs1324563850	missense variant	-	NC_000015.10:g.100907206C>T	TOPMed
ALDH1A3	P47895	p.Ala441Val	COSM433594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907209C>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Val443Met	rs1421683292	missense variant	-	NC_000015.10:g.100907214G>A	TOPMed
ALDH1A3	P47895	p.Thr445Lys	rs767708755	missense variant	-	NC_000015.10:g.100907221C>A	ExAC,gnomAD
ALDH1A3	P47895	p.Lys446Arg	rs751007156	missense variant	-	NC_000015.10:g.100907224A>G	ExAC,gnomAD
ALDH1A3	P47895	p.Leu448Ile	COSM959599	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100907229C>A	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Asp449Glu	rs1437336863	missense variant	-	NC_000015.10:g.100907234C>G	gnomAD
ALDH1A3	P47895	p.Asp449Asn	rs188694308	missense variant	-	NC_000015.10:g.100907232G>A	1000Genomes,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Lys450Arg	rs142115253	missense variant	-	NC_000015.10:g.100907236A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ala451Thr	rs1385367545	missense variant	-	NC_000015.10:g.100907238G>A	gnomAD
ALDH1A3	P47895	p.Lys453Thr	rs760821464	missense variant	-	NC_000015.10:g.100907245A>C	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ala457Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100907257C>T	NCI-TCGA
ALDH1A3	P47895	p.Glu459Lys	rs147498604	missense variant	-	NC_000015.10:g.100907262G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Glu459Gln	rs147498604	missense variant	-	NC_000015.10:g.100907262G>C	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ser460Cys	rs1327059295	missense variant	-	NC_000015.10:g.100907266C>G	gnomAD
ALDH1A3	P47895	p.Thr462Met	rs377271890	missense variant	-	NC_000015.10:g.100907272C>T	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Trp464Ter	rs762019225	stop gained	-	NC_000015.10:g.100907278G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Asn466Lys	VAR_072337	Missense	Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]	-	UniProt
ALDH1A3	P47895	p.Cys467Ser	rs1159354141	missense variant	-	NC_000015.10:g.100908416G>C	TOPMed
ALDH1A3	P47895	p.Ala470Ser	rs147752643	missense variant	-	NC_000015.10:g.100908424G>T	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Ala470Thr	rs147752643	missense variant	-	NC_000015.10:g.100908424G>A	ESP,ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Leu471Phe	rs772154609	missense variant	-	NC_000015.10:g.100908427C>T	ExAC,gnomAD
ALDH1A3	P47895	p.Gln474Ter	rs915715572	stop gained	-	NC_000015.10:g.100908436C>T	TOPMed
ALDH1A3	P47895	p.Gly478Asp	rs947226082	missense variant	-	NC_000015.10:g.100908449G>A	TOPMed
ALDH1A3	P47895	p.Gly479Asp	RCV000710043	missense variant	Isolated anophthalmia-microphthalmia syndrome	NC_000015.10:g.100908452G>A	ClinVar
ALDH1A3	P47895	p.Gly479Ser	rs760973105	missense variant	-	NC_000015.10:g.100908451G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Asn485Ile	rs1213690160	missense variant	-	NC_000015.10:g.100908470A>T	TOPMed
ALDH1A3	P47895	p.Asn485His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100908469A>C	NCI-TCGA
ALDH1A3	P47895	p.Glu488Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.100908478G>T	NCI-TCGA
ALDH1A3	P47895	p.Tyr492Cys	rs1310945145	missense variant	-	NC_000015.10:g.100914709A>G	gnomAD
ALDH1A3	P47895	p.Ala493Thr	rs397514653	missense variant	-	NC_000015.10:g.100914711G>A	1000Genomes,ExAC,gnomAD
ALDH1A3	P47895	p.Ala493Val	COSM959601	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.100914712C>T	NCI-TCGA Cosmic
ALDH1A3	P47895	p.Ala493Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100914711G>T	NCI-TCGA
ALDH1A3	P47895	p.Ala493Pro	RCV000033222	missense variant	Microphthalmia, isolated 8 (MCOP8)	NC_000015.10:g.100914711G>C	ClinVar
ALDH1A3	P47895	p.Ala493Pro	rs397514653	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100914711G>C	UniProt,dbSNP
ALDH1A3	P47895	p.Ala493Pro	VAR_069325	missense variant	Microphthalmia, isolated, 8 (MCOP8)	NC_000015.10:g.100914711G>C	UniProt
ALDH1A3	P47895	p.Ala493Pro	rs397514653	missense variant	-	NC_000015.10:g.100914711G>C	1000Genomes,ExAC,gnomAD
ALDH1A3	P47895	p.Ala493Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.100914712C>A	NCI-TCGA
ALDH1A3	P47895	p.Leu494Ser	rs1464529546	missense variant	-	NC_000015.10:g.100914715T>C	gnomAD
ALDH1A3	P47895	p.Glu496Ter	rs753755248	stop gained	-	NC_000015.10:g.100914720G>T	ExAC,gnomAD
ALDH1A3	P47895	p.Glu496Lys	rs753755248	missense variant	-	NC_000015.10:g.100914720G>A	ExAC,gnomAD
ALDH1A3	P47895	p.Tyr497Asn	rs1475901775	missense variant	-	NC_000015.10:g.100914723T>A	gnomAD
ALDH1A3	P47895	p.Thr498Ile	rs1168265416	missense variant	-	NC_000015.10:g.100914727C>T	gnomAD
ALDH1A3	P47895	p.Thr502Ala	rs1424217463	missense variant	-	NC_000015.10:g.100914738A>G	gnomAD
ALDH1A3	P47895	p.Ile505Thr	RCV000194309	missense variant	Autistic disorder of childhood onset (AUTS)	NC_000015.10:g.100914748T>C	ClinVar
ALDH1A3	P47895	p.Ile505Thr	rs797046134	missense variant	-	NC_000015.10:g.100914748T>C	-
ALDH1A3	P47895	p.Ile505Val	rs1178178708	missense variant	-	NC_000015.10:g.100914747A>G	gnomAD
ALDH1A3	P47895	p.Asp509Asn	rs758415413	missense variant	-	NC_000015.10:g.100914759G>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asn511Lys	rs199747569	missense variant	-	NC_000015.10:g.100914767C>A	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Asn511Lys	rs199747569	missense variant	-	NC_000015.10:g.100914767C>G	ExAC,TOPMed,gnomAD
ALDH1A3	P47895	p.Pro512Ala	rs374029874	missense variant	-	NC_000015.10:g.100914768C>G	ESP,ExAC,gnomAD
ALDH1A3	P47895	p.Pro512Thr	rs374029874	missense variant	-	NC_000015.10:g.100914768C>A	ESP,ExAC,gnomAD
SOX9	P48436	p.Asn2Lys	rs1479987082	missense variant	-	NC_000017.11:g.72121397T>A	gnomAD
SOX9	P48436	p.Asp5Glu	rs768210143	missense variant	-	NC_000017.11:g.72121406C>G	ExAC,gnomAD
SOX9	P48436	p.Pro6Ser	rs866679165	missense variant	-	NC_000017.11:g.72121407C>T	TOPMed,gnomAD
SOX9	P48436	p.Met8Leu	rs1221846522	missense variant	-	NC_000017.11:g.72121413A>C	TOPMed
SOX9	P48436	p.Met8Ile	rs1452893426	missense variant	-	NC_000017.11:g.72121415G>A	TOPMed
SOX9	P48436	p.Thr11Asn	rs1244512563	missense variant	-	NC_000017.11:g.72121423C>A	TOPMed
SOX9	P48436	p.Thr11Ala	rs1287145712	missense variant	-	NC_000017.11:g.72121422A>G	TOPMed
SOX9	P48436	p.Glu13Lys	rs1478425968	missense variant	-	NC_000017.11:g.72121428G>A	TOPMed,gnomAD
SOX9	P48436	p.Glu13Asp	rs1172992469	missense variant	-	NC_000017.11:g.72121430G>C	TOPMed,gnomAD
SOX9	P48436	p.Glu13Asp	rs1172992469	missense variant	-	NC_000017.11:g.72121430G>T	TOPMed,gnomAD
SOX9	P48436	p.Glu15Lys	rs772903403	missense variant	-	NC_000017.11:g.72121434G>A	ExAC,gnomAD
SOX9	P48436	p.Lys16Arg	rs1404583942	missense variant	-	NC_000017.11:g.72121438A>G	TOPMed,gnomAD
SOX9	P48436	p.Lys16Met	rs1404583942	missense variant	-	NC_000017.11:g.72121438A>T	TOPMed,gnomAD
SOX9	P48436	p.Gly17Val	rs762942282	missense variant	-	NC_000017.11:g.72121441G>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Leu18Arg	rs770996719	missense variant	-	NC_000017.11:g.72121444T>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser19Phe	rs775652942	missense variant	-	NC_000017.11:g.72121447C>T	ExAC,gnomAD
SOX9	P48436	p.Gly20Ala	rs1276160255	missense variant	-	NC_000017.11:g.72121450G>C	gnomAD
SOX9	P48436	p.Ala21Thr	rs193920972	missense variant	-	NC_000017.11:g.72121452G>A	-
SOX9	P48436	p.Ala21Thr	RCV000148999	missense variant	Malignant tumor of prostate	NC_000017.11:g.72121452G>A	ClinVar
SOX9	P48436	p.Pro22Arg	rs760834344	missense variant	-	NC_000017.11:g.72121456C>G	ExAC,gnomAD
SOX9	P48436	p.Pro22Ser	rs1019580760	missense variant	-	NC_000017.11:g.72121455C>T	TOPMed,gnomAD
SOX9	P48436	p.Ser23AlaPheSerTerUnkUnk	COSM4729206	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72121453C>-	NCI-TCGA Cosmic
SOX9	P48436	p.Thr25ProPheSerTerUnkUnk	COSM1385620	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72121459_72121460insCC	NCI-TCGA Cosmic
SOX9	P48436	p.Met26Val	rs575451633	missense variant	-	NC_000017.11:g.72121467A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Met26Ile	rs1482055922	missense variant	-	NC_000017.11:g.72121469G>A	gnomAD
SOX9	P48436	p.Glu28_Pro509del	VAR_078490	inframe_deletion	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Asp29Ala	rs1371768776	missense variant	-	NC_000017.11:g.72121477A>C	TOPMed
SOX9	P48436	p.Ser30Cys	rs1003847603	missense variant	-	NC_000017.11:g.72121480C>G	TOPMed
SOX9	P48436	p.Ala31Val	COSM1385621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72121483C>T	NCI-TCGA Cosmic
SOX9	P48436	p.Ala31Thr	rs1257248748	missense variant	-	NC_000017.11:g.72121482G>A	gnomAD
SOX9	P48436	p.Ala31Ser	rs1257248748	missense variant	-	NC_000017.11:g.72121482G>T	gnomAD
SOX9	P48436	p.Gly32Asp	rs1417947256	missense variant	-	NC_000017.11:g.72121486G>A	gnomAD
SOX9	P48436	p.Gly32Arg	rs1196498041	missense variant	-	NC_000017.11:g.72121485G>C	gnomAD
SOX9	P48436	p.Cys35Ter	COSM6147418	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72121496C>A	NCI-TCGA Cosmic
SOX9	P48436	p.Pro36Arg	rs765600450	missense variant	-	NC_000017.11:g.72121498C>G	ExAC,gnomAD
SOX9	P48436	p.Pro36Ser	rs1433090383	missense variant	-	NC_000017.11:g.72121497C>T	gnomAD
SOX9	P48436	p.Pro36Gln	rs765600450	missense variant	-	NC_000017.11:g.72121498C>A	ExAC,gnomAD
SOX9	P48436	p.Thr43Ala	rs758848875	missense variant	-	NC_000017.11:g.72121518A>G	ExAC,gnomAD
SOX9	P48436	p.Thr43Ile	rs780529883	missense variant	-	NC_000017.11:g.72121519C>T	ExAC,gnomAD
SOX9	P48436	p.Thr46Arg	rs1386891071	missense variant	-	NC_000017.11:g.72121528C>G	gnomAD
SOX9	P48436	p.Arg47Trp	rs1310139412	missense variant	-	NC_000017.11:g.72121530C>T	gnomAD
SOX9	P48436	p.Arg47Leu	rs752124347	missense variant	-	NC_000017.11:g.72121531G>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro48Leu	rs780613069	missense variant	-	NC_000017.11:g.72121534C>T	ExAC,gnomAD
SOX9	P48436	p.Pro48Thr	rs754474934	missense variant	-	NC_000017.11:g.72121533C>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln49His	rs1203855459	missense variant	-	NC_000017.11:g.72121538G>C	gnomAD
SOX9	P48436	p.Gln49Arg	rs1276737891	missense variant	-	NC_000017.11:g.72121537A>G	TOPMed
SOX9	P48436	p.Asn51Ser	rs969167599	missense variant	-	NC_000017.11:g.72121543A>G	TOPMed
SOX9	P48436	p.Thr52Arg	rs1485820060	missense variant	-	NC_000017.11:g.72121546C>G	gnomAD
SOX9	P48436	p.Phe53Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121550C>A	NCI-TCGA
SOX9	P48436	p.Pro54Thr	rs1269568418	missense variant	-	NC_000017.11:g.72121551C>A	gnomAD
SOX9	P48436	p.Glu57Asp	rs1370029373	missense variant	-	NC_000017.11:g.72121562G>T	TOPMed
SOX9	P48436	p.Glu57Lys	rs749108550	missense variant	-	NC_000017.11:g.72121560G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro58Arg	rs770917232	missense variant	-	NC_000017.11:g.72121564C>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Asp59Tyr	rs367592961	missense variant	-	NC_000017.11:g.72121566G>T	ESP,TOPMed,gnomAD
SOX9	P48436	p.Asp59Asn	rs367592961	missense variant	-	NC_000017.11:g.72121566G>A	ESP,TOPMed,gnomAD
SOX9	P48436	p.Lys61GluPheSerTerUnkUnkUnk	COSM5156965	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72121569_72121570insT	NCI-TCGA Cosmic
SOX9	P48436	p.Lys62Glu	rs953588825	missense variant	-	NC_000017.11:g.72121575A>G	TOPMed
SOX9	P48436	p.Glu63GlyPheSerTerUnkUnkUnk	COSM1385622	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72121574_72121575insA	NCI-TCGA Cosmic
SOX9	P48436	p.Glu63Lys	rs149852681	missense variant	-	NC_000017.11:g.72121578G>A	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Glu63Asp	rs1295144957	missense variant	-	NC_000017.11:g.72121580G>C	gnomAD
SOX9	P48436	p.Glu63Gly	rs1354393467	missense variant	-	NC_000017.11:g.72121579A>G	TOPMed
SOX9	P48436	p.Glu63Gln	rs149852681	missense variant	-	NC_000017.11:g.72121578G>C	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser64Thr	rs1368180768	missense variant	-	NC_000017.11:g.72121582G>C	gnomAD
SOX9	P48436	p.Glu65Gly	rs1309589494	missense variant	-	NC_000017.11:g.72121585A>G	gnomAD
SOX9	P48436	p.Glu66GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72121587_72121588GA>-	NCI-TCGA
SOX9	P48436	p.Glu66Lys	rs759597531	missense variant	-	NC_000017.11:g.72121587G>A	ExAC,gnomAD
SOX9	P48436	p.Asp67Gly	rs769953292	missense variant	-	NC_000017.11:g.72121591A>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Asp67Asn	rs1182522222	missense variant	-	NC_000017.11:g.72121590G>A	gnomAD
SOX9	P48436	p.Pro70Ser	rs1316632405	missense variant	-	NC_000017.11:g.72121599C>T	gnomAD
SOX9	P48436	p.Arg74Ser	rs374439583	missense variant	-	NC_000017.11:g.72121611C>A	ESP,TOPMed
SOX9	P48436	p.Glu75Lys	COSM344590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72121614G>A	NCI-TCGA Cosmic
SOX9	P48436	p.Glu75Asp	rs750706326	missense variant	-	NC_000017.11:g.72121616G>C	ExAC,gnomAD
SOX9	P48436	p.Ala76Glu	rs137853128	missense variant	-	NC_000017.11:g.72121618C>A	-
SOX9	P48436	p.Ala76Glu	rs137853128	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72121618C>A	UniProt,dbSNP
SOX9	P48436	p.Ala76Glu	VAR_063642	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72121618C>A	UniProt
SOX9	P48436	p.Ala76Glu	RCV000002621	missense variant	Acampomelic campomelic dysplasia	NC_000017.11:g.72121618C>A	ClinVar
SOX9	P48436	p.Val77Phe	COSM1385623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72121620G>T	NCI-TCGA Cosmic
SOX9	P48436	p.Val77Leu	rs1239068559	missense variant	-	NC_000017.11:g.72121620G>C	gnomAD
SOX9	P48436	p.Ser78Asn	rs1175328216	missense variant	-	NC_000017.11:g.72121624G>A	gnomAD
SOX9	P48436	p.Leu81Phe	rs1424115604	missense variant	-	NC_000017.11:g.72121632C>T	gnomAD
SOX9	P48436	p.Lys82Arg	rs1426824674	missense variant	-	NC_000017.11:g.72121636A>G	TOPMed
SOX9	P48436	p.Tyr84Ter	RCV000531068	nonsense	Camptomelic dysplasia	NC_000017.11:g.72121643C>G	ClinVar
SOX9	P48436	p.Tyr84Asp	COSM3403169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72121641T>G	NCI-TCGA Cosmic
SOX9	P48436	p.Tyr84Ter	rs1555629022	stop gained	-	NC_000017.11:g.72121643C>G	-
SOX9	P48436	p.Asp85GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72121643_72121644insG	NCI-TCGA
SOX9	P48436	p.Asp85His	rs368623884	missense variant	-	NC_000017.11:g.72121644G>C	ESP,TOPMed,gnomAD
SOX9	P48436	p.Asp85Asn	rs368623884	missense variant	-	NC_000017.11:g.72121644G>A	ESP,TOPMed,gnomAD
SOX9	P48436	p.Trp86Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.72121648G>A	NCI-TCGA
SOX9	P48436	p.Val89Ala	rs1460513055	missense variant	-	NC_000017.11:g.72121657T>C	gnomAD
SOX9	P48436	p.Met91Ile	rs755459350	missense variant	-	NC_000017.11:g.72121664G>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Met91Thr	rs752036712	missense variant	-	NC_000017.11:g.72121663T>C	ExAC,gnomAD
SOX9	P48436	p.Met91Leu	rs766764961	missense variant	-	NC_000017.11:g.72121662A>T	ExAC,gnomAD
SOX9	P48436	p.Met91Ter	RCV000658382	frameshift	-	NC_000017.11:g.72121663dup	ClinVar
SOX9	P48436	p.Arg94His	rs1373080436	missense variant	-	NC_000017.11:g.72121672G>A	gnomAD
SOX9	P48436	p.Asn96Ser	rs148407362	missense variant	-	NC_000017.11:g.72121678A>G	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly97Cys	rs777553641	missense variant	-	NC_000017.11:g.72121680G>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly97Arg	rs777553641	missense variant	-	NC_000017.11:g.72121680G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser99Asn	rs748989255	missense variant	-	NC_000017.11:g.72121687G>A	ExAC,gnomAD
SOX9	P48436	p.Asn101Lys	rs1232479837	missense variant	-	NC_000017.11:g.72121694C>A	gnomAD
SOX9	P48436	p.His104Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121701C>T	NCI-TCGA
SOX9	P48436	p.Lys106Glu	RCV000259486	missense variant	-	NC_000017.11:g.72121707A>G	ClinVar
SOX9	P48436	p.Lys106Glu	rs886042523	missense variant	-	NC_000017.11:g.72121707A>G	-
SOX9	P48436	p.Pro108Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121713C>T	NCI-TCGA
SOX9	P48436	p.Pro108Leu	VAR_003735	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Asn110Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121720A>C	NCI-TCGA
SOX9	P48436	p.Asn110Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121720A>G	NCI-TCGA
SOX9	P48436	p.Ala111Pro	rs1425166755	missense variant	-	NC_000017.11:g.72121722G>C	gnomAD
SOX9	P48436	p.Ala111Thr	RCV000624587	missense variant	Inborn genetic diseases	NC_000017.11:g.72121722G>A	ClinVar
SOX9	P48436	p.Ala111Thr	rs1425166755	missense variant	-	NC_000017.11:g.72121722G>A	gnomAD
SOX9	P48436	p.Phe112Leu	rs1407667250	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72121727C>A	UniProt,dbSNP
SOX9	P48436	p.Phe112Leu	VAR_003736	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72121727C>A	UniProt
SOX9	P48436	p.Phe112Leu	rs1407667250	missense variant	-	NC_000017.11:g.72121727C>A	gnomAD
SOX9	P48436	p.Phe112Ser	VAR_003737	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Met113Thr	VAR_063643	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Met113Val	VAR_063644	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Val114Ala	COSM3403170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72121732T>C	NCI-TCGA Cosmic
SOX9	P48436	p.Trp115GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72121731_72121732GT>-	NCI-TCGA
SOX9	P48436	p.Trp115Ter	RCV000756682	nonsense	-	NC_000017.11:g.72121735G>A	ClinVar
SOX9	P48436	p.Gln117Ter	RCV000543112	nonsense	Camptomelic dysplasia	NC_000017.11:g.72121740C>T	ClinVar
SOX9	P48436	p.Gln117Ter	rs1555629037	stop gained	-	NC_000017.11:g.72121740C>T	-
SOX9	P48436	p.Ala118Thr	rs1327802772	missense variant	-	NC_000017.11:g.72121743G>A	gnomAD
SOX9	P48436	p.Ala119Glu	RCV000283868	missense variant	-	NC_000017.11:g.72121747C>A	ClinVar
SOX9	P48436	p.Ala119Glu	rs886043537	missense variant	-	NC_000017.11:g.72121747C>A	-
SOX9	P48436	p.Ala119Val	VAR_003738	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Arg120Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121749C>T	NCI-TCGA
SOX9	P48436	p.Arg121Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121752A>G	NCI-TCGA
SOX9	P48436	p.Ala124Pro	rs1057524437	missense variant	-	NC_000017.11:g.72121761G>C	-
SOX9	P48436	p.Ala124Pro	RCV000433660	missense variant	-	NC_000017.11:g.72121761G>C	ClinVar
SOX9	P48436	p.Gln126Ter	COSM437263	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72121767C>T	NCI-TCGA Cosmic
SOX9	P48436	p.Gln126His	rs748167077	missense variant	-	NC_000017.11:g.72121769G>T	ExAC,gnomAD
SOX9	P48436	p.Tyr127Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121771A>G	NCI-TCGA
SOX9	P48436	p.His129Tyr	rs1279323725	missense variant	-	NC_000017.11:g.72121776C>T	gnomAD
SOX9	P48436	p.His131Tyr	rs1341586323	missense variant	-	NC_000017.11:g.72121782C>T	gnomAD
SOX9	P48436	p.Leu135Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121794C>T	NCI-TCGA
SOX9	P48436	p.Ser136Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121798G>A	NCI-TCGA
SOX9	P48436	p.Lys137Glu	rs1443204761	missense variant	-	NC_000017.11:g.72121800A>G	gnomAD
SOX9	P48436	p.Thr138Lys	RCV000523771	missense variant	-	NC_000017.11:g.72121804C>A	ClinVar
SOX9	P48436	p.Thr138Lys	rs1555629043	missense variant	-	NC_000017.11:g.72121804C>A	-
SOX9	P48436	p.Lys141Glu	COSM3691761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72121812A>G	NCI-TCGA Cosmic
SOX9	P48436	p.Lys141Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72121814G>T	NCI-TCGA
SOX9	P48436	p.Leu142Phe	rs528850018	missense variant	-	NC_000017.11:g.72121815C>T	1000Genomes
SOX9	P48436	p.Trp143Cys	RCV000756678	missense variant	-	NC_000017.11:g.72121820G>T	ClinVar
SOX9	P48436	p.Trp143Arg	VAR_003739	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Leu145His	rs1331779898	missense variant	-	NC_000017.11:g.72122721T>A	gnomAD
SOX9	P48436	p.Leu146ArgPheSerTerUnkUnk	COSM270989	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72122724T>-	NCI-TCGA Cosmic
SOX9	P48436	p.Asn147Thr	rs547222137	missense variant	-	NC_000017.11:g.72122727A>C	1000Genomes
SOX9	P48436	p.Glu148Ter	rs886041242	stop gained	-	NC_000017.11:g.72122729G>T	TOPMed
SOX9	P48436	p.Glu148Ter	RCV000306254	nonsense	-	NC_000017.11:g.72122729G>T	ClinVar
SOX9	P48436	p.Glu148Gln	rs886041242	missense variant	-	NC_000017.11:g.72122729G>C	TOPMed
SOX9	P48436	p.Glu150Asp	rs1465795705	missense variant	-	NC_000017.11:g.72122737G>C	gnomAD
SOX9	P48436	p.Arg152Trp	COSM983752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72122741C>T	NCI-TCGA Cosmic
SOX9	P48436	p.Arg152Pro	VAR_003740	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Phe154Leu	RCV000002623	missense variant	Camptomelic dysplasia	NC_000017.11:g.72122749C>G	ClinVar
SOX9	P48436	p.Phe154Leu	rs137853129	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122749C>G	UniProt,dbSNP
SOX9	P48436	p.Phe154Leu	VAR_008529	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122749C>G	UniProt
SOX9	P48436	p.Phe154Leu	rs137853129	missense variant	-	NC_000017.11:g.72122749C>G	-
SOX9	P48436	p.Glu156Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.72122753G>T	NCI-TCGA
SOX9	P48436	p.Ala158Thr	rs137853130	missense variant	-	NC_000017.11:g.72122759G>A	-
SOX9	P48436	p.Ala158Thr	rs137853130	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122759G>A	UniProt,dbSNP
SOX9	P48436	p.Ala158Thr	VAR_008530	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122759G>A	UniProt
SOX9	P48436	p.Ala158Thr	RCV000002624	missense variant	Campomelic dysplasia with autosomal sex reversal	NC_000017.11:g.72122759G>A	ClinVar
SOX9	P48436	p.Arg160ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72122764_72122765insC	NCI-TCGA
SOX9	P48436	p.Arg160Pro	rs1057518419	missense variant	-	NC_000017.11:g.72122766G>C	-
SOX9	P48436	p.Arg160Pro	RCV000413454	missense variant	-	NC_000017.11:g.72122766G>C	ClinVar
SOX9	P48436	p.Arg162His	rs774639088	missense variant	-	NC_000017.11:g.72122772G>A	ExAC,gnomAD
SOX9	P48436	p.Val163Ala	rs1211255730	missense variant	-	NC_000017.11:g.72122775T>C	gnomAD
SOX9	P48436	p.Val163Met	rs1469442385	missense variant	-	NC_000017.11:g.72122774G>A	TOPMed,gnomAD
SOX9	P48436	p.Val163Leu	rs1469442385	missense variant	-	NC_000017.11:g.72122774G>T	TOPMed,gnomAD
SOX9	P48436	p.Val163Leu	rs1469442385	missense variant	-	NC_000017.11:g.72122774G>C	TOPMed,gnomAD
SOX9	P48436	p.Gln164Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.72122777C>T	NCI-TCGA
SOX9	P48436	p.Gln164Pro	RCV000754788	missense variant	Camptomelic dysplasia	NC_000017.11:g.72122778A>C	ClinVar
SOX9	P48436	p.His165Arg	COSM4069148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72122781A>G	NCI-TCGA Cosmic
SOX9	P48436	p.His165Tyr	RCV000002620	missense variant	Acampomelic campomelic dysplasia	NC_000017.11:g.72122780C>T	ClinVar
SOX9	P48436	p.His165Tyr	rs28940282	missense variant	-	NC_000017.11:g.72122780C>T	-
SOX9	P48436	p.His165Tyr	rs28940282	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122780C>T	UniProt,dbSNP
SOX9	P48436	p.His165Tyr	VAR_008531	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122780C>T	UniProt
SOX9	P48436	p.His165Gln	VAR_063645	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Lys166Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72122785G>C	NCI-TCGA
SOX9	P48436	p.Lys167Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72122787A>C	NCI-TCGA
SOX9	P48436	p.Asp168Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72122790A>G	NCI-TCGA
SOX9	P48436	p.His169Gln	rs2229989	missense variant	-	NC_000017.11:g.72122794C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.His169Gln	RCV000224991	missense variant	Camptomelic dysplasia	NC_000017.11:g.72122794C>G	ClinVar
SOX9	P48436	p.His169Pro	VAR_078491	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Pro170Ser	rs866706988	missense variant	-	NC_000017.11:g.72122795C>T	-
SOX9	P48436	p.Pro170Leu	RCV000494341	missense variant	-	NC_000017.11:g.72122796C>T	ClinVar
SOX9	P48436	p.Pro170Leu	rs1131691554	missense variant	-	NC_000017.11:g.72122796C>T	-
SOX9	P48436	p.Pro170Leu	rs1131691554	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122796C>T	UniProt,dbSNP
SOX9	P48436	p.Pro170Leu	VAR_063646	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122796C>T	UniProt
SOX9	P48436	p.Pro170Ser	RCV000677668	missense variant	Camptomelic dysplasia	NC_000017.11:g.72122795C>T	ClinVar
SOX9	P48436	p.Pro170Arg	VAR_003741	Missense	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Asp171Tyr	rs1468883015	missense variant	-	NC_000017.11:g.72122798G>T	gnomAD
SOX9	P48436	p.Tyr172His	COSM1385626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72122801T>C	NCI-TCGA Cosmic
SOX9	P48436	p.Tyr172LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72122799_72122800insT	NCI-TCGA
SOX9	P48436	p.Tyr172Cys	RCV000578438	missense variant	Camptomelic dysplasia	NC_000017.11:g.72122802A>G	ClinVar
SOX9	P48436	p.Tyr172Cys	rs1555629158	missense variant	-	NC_000017.11:g.72122802A>G	-
SOX9	P48436	p.Lys173Arg	rs925119013	missense variant	-	NC_000017.11:g.72122805A>G	TOPMed
SOX9	P48436	p.Lys173Glu	RCV000002618	missense variant	Acampomelic campomelic dysplasia	NC_000017.11:g.72122804A>G	ClinVar
SOX9	P48436	p.Lys173Glu	rs104894647	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122804A>G	UniProt,dbSNP
SOX9	P48436	p.Lys173Glu	VAR_063647	missense variant	Campomelic dysplasia (CMD1)	NC_000017.11:g.72122804A>G	UniProt
SOX9	P48436	p.Lys173Glu	rs104894647	missense variant	-	NC_000017.11:g.72122804A>G	-
SOX9	P48436	p.Tyr174Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72122808A>G	NCI-TCGA
SOX9	P48436	p.Tyr174Ter	rs373719106	stop gained	-	NC_000017.11:g.72122809C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Tyr174Ser	RCV000623666	missense variant	Inborn genetic diseases	NC_000017.11:g.72122808A>C	ClinVar
SOX9	P48436	p.Tyr174Ter	RCV000486195	nonsense	-	NC_000017.11:g.72122809C>G	ClinVar
SOX9	P48436	p.Tyr174Ser	rs1555629165	missense variant	-	NC_000017.11:g.72122808A>C	-
SOX9	P48436	p.Tyr174Ter	RCV000760948	nonsense	-	NC_000017.11:g.72122809C>A	ClinVar
SOX9	P48436	p.Gln175Pro	COSM1385627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72122811A>C	NCI-TCGA Cosmic
SOX9	P48436	p.Pro176Arg	rs1555629170	missense variant	-	NC_000017.11:g.72122814C>G	-
SOX9	P48436	p.Pro176Arg	RCV000520332	missense variant	-	NC_000017.11:g.72122814C>G	ClinVar
SOX9	P48436	p.Pro176Ser	rs1555629169	missense variant	-	NC_000017.11:g.72122813C>T	-
SOX9	P48436	p.Pro176Ser	RCV000498972	missense variant	-	NC_000017.11:g.72122813C>T	ClinVar
SOX9	P48436	p.Arg177Trp	COSM983753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72122816C>T	NCI-TCGA Cosmic
SOX9	P48436	p.Arg177Gln	rs794727246	missense variant	-	NC_000017.11:g.72122817G>A	-
SOX9	P48436	p.Arg177Gln	RCV000175588	missense variant	-	NC_000017.11:g.72122817G>A	ClinVar
SOX9	P48436	p.Arg179Gly	RCV000175589	missense variant	-	NC_000017.11:g.72122822A>G	ClinVar
SOX9	P48436	p.Arg179Gly	rs794727247	missense variant	-	NC_000017.11:g.72122822A>G	-
SOX9	P48436	p.Val182Met	rs779943975	missense variant	-	NC_000017.11:g.72122831G>A	ExAC,gnomAD
SOX9	P48436	p.Val182Ala	rs1354294733	missense variant	-	NC_000017.11:g.72122832T>C	TOPMed
SOX9	P48436	p.Lys183Arg	rs1412598968	missense variant	-	NC_000017.11:g.72122835A>G	TOPMed,gnomAD
SOX9	P48436	p.Asn184Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72122838A>T	NCI-TCGA
SOX9	P48436	p.Asn184Lys	rs751400812	missense variant	-	NC_000017.11:g.72122839C>G	ExAC
SOX9	P48436	p.Asn184Thr	rs1469172813	missense variant	-	NC_000017.11:g.72122838A>C	gnomAD
SOX9	P48436	p.Asn184Lys	rs751400812	missense variant	-	NC_000017.11:g.72122839C>A	ExAC
SOX9	P48436	p.Gly185Glu	rs777760556	missense variant	-	NC_000017.11:g.72122841G>A	ExAC,gnomAD
SOX9	P48436	p.Gly185Trp	rs754935813	missense variant	-	NC_000017.11:g.72122840G>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly185Arg	rs754935813	missense variant	-	NC_000017.11:g.72122840G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln186Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72122844A>G	NCI-TCGA
SOX9	P48436	p.Gln186Ter	RCV000255093	frameshift	-	NC_000017.11:g.72122842del	ClinVar
SOX9	P48436	p.Ala187Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72122847C>T	NCI-TCGA
SOX9	P48436	p.Ala187Pro	RCV000487804	missense variant	-	NC_000017.11:g.72122846G>C	ClinVar
SOX9	P48436	p.Ala187Thr	rs771056492	missense variant	-	NC_000017.11:g.72122846G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala187Pro	rs771056492	missense variant	-	NC_000017.11:g.72122846G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Glu190Gly	rs746150703	missense variant	-	NC_000017.11:g.72122856A>G	ExAC,gnomAD
SOX9	P48436	p.Glu191Ala	rs772277252	missense variant	-	NC_000017.11:g.72122859A>C	ExAC,gnomAD
SOX9	P48436	p.Ala192Ser	rs775956539	missense variant	-	NC_000017.11:g.72122861G>T	ExAC,gnomAD
SOX9	P48436	p.Thr193Ala	rs761199061	missense variant	-	NC_000017.11:g.72122864A>G	ExAC,gnomAD
SOX9	P48436	p.Glu194Gly	rs375577899	missense variant	-	NC_000017.11:g.72122868A>G	ESP,TOPMed,gnomAD
SOX9	P48436	p.Glu194Lys	rs1174185362	missense variant	-	NC_000017.11:g.72122867G>A	gnomAD
SOX9	P48436	p.Gln195Glu	rs1480235826	missense variant	-	NC_000017.11:g.72122870C>G	TOPMed
SOX9	P48436	p.Gln195Leu	rs1417266505	missense variant	-	NC_000017.11:g.72122871A>T	gnomAD
SOX9	P48436	p.Thr196Met	rs777338876	missense variant	-	NC_000017.11:g.72122874C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.His197Leu	rs1462845239	missense variant	-	NC_000017.11:g.72122877A>T	TOPMed
SOX9	P48436	p.His197Gln	rs146754673	missense variant	-	NC_000017.11:g.72122878C>A	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.His197Asp	rs1390665178	missense variant	-	NC_000017.11:g.72122876C>G	gnomAD
SOX9	P48436	p.Ile198Asn	rs750018537	missense variant	-	NC_000017.11:g.72122880T>A	ExAC,gnomAD
SOX9	P48436	p.Ser199Pro	rs1292551352	missense variant	-	NC_000017.11:g.72122882T>C	gnomAD
SOX9	P48436	p.Ser199Tyr	rs762685531	missense variant	-	NC_000017.11:g.72122883C>A	ExAC,gnomAD
SOX9	P48436	p.Ser199Phe	rs762685531	missense variant	-	NC_000017.11:g.72122883C>T	ExAC,gnomAD
SOX9	P48436	p.Pro200Thr	rs1249311365	missense variant	-	NC_000017.11:g.72122885C>A	TOPMed,gnomAD
SOX9	P48436	p.Pro200Ser	rs1249311365	missense variant	-	NC_000017.11:g.72122885C>T	TOPMed,gnomAD
SOX9	P48436	p.Asn201Ser	rs1338326231	missense variant	-	NC_000017.11:g.72122889A>G	gnomAD
SOX9	P48436	p.Ile203Val	rs1222573664	missense variant	-	NC_000017.11:g.72122894A>G	TOPMed
SOX9	P48436	p.Ile203Met	rs140368355	missense variant	-	NC_000017.11:g.72122896C>G	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Phe204Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.72122897_72122898insAAG	NCI-TCGA
SOX9	P48436	p.Phe204Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72122898T>A	NCI-TCGA
SOX9	P48436	p.Phe204Leu	rs754850647	missense variant	-	NC_000017.11:g.72122897T>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala206Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72122904C>T	NCI-TCGA
SOX9	P48436	p.Gln208Ter	COSM1385629	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72122909C>T	NCI-TCGA Cosmic
SOX9	P48436	p.Ala209Ser	rs781092407	missense variant	-	NC_000017.11:g.72122912G>T	ExAC,gnomAD
SOX9	P48436	p.Ala209Val	rs1403504655	missense variant	-	NC_000017.11:g.72122913C>T	TOPMed
SOX9	P48436	p.Asp210Tyr	rs201541265	missense variant	-	NC_000017.11:g.72122915G>T	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Asp210Asn	rs201541265	missense variant	-	NC_000017.11:g.72122915G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Asp210Glu	rs746038858	missense variant	-	NC_000017.11:g.72122917C>G	ExAC,gnomAD
SOX9	P48436	p.Asp210Ter	RCV000658383	frameshift	-	NC_000017.11:g.72122915del	ClinVar
SOX9	P48436	p.His213Tyr	rs1174435172	missense variant	-	NC_000017.11:g.72122924C>T	gnomAD
SOX9	P48436	p.His213Gln	rs772345173	missense variant	-	NC_000017.11:g.72122926C>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser214Pro	COSM473289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72122927T>C	NCI-TCGA Cosmic
SOX9	P48436	p.Ser214Phe	rs1412662021	missense variant	-	NC_000017.11:g.72122928C>T	TOPMed,gnomAD
SOX9	P48436	p.Ser215Phe	rs1033953308	missense variant	-	NC_000017.11:g.72122931C>T	TOPMed
SOX9	P48436	p.Met218Ile	rs747366415	missense variant	-	NC_000017.11:g.72122941G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Met218Ile	RCV000644442	missense variant	Camptomelic dysplasia	NC_000017.11:g.72122941G>A	ClinVar
SOX9	P48436	p.Met218Val	rs377486002	missense variant	-	NC_000017.11:g.72122939A>G	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser219Asn	rs769213732	missense variant	-	NC_000017.11:g.72122943G>A	ExAC,gnomAD
SOX9	P48436	p.His222CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72122947_72122948insGT	NCI-TCGA
SOX9	P48436	p.His222Tyr	rs769133543	missense variant	-	NC_000017.11:g.72122951C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.His222Gln	rs1281960758	missense variant	-	NC_000017.11:g.72122953C>G	gnomAD
SOX9	P48436	p.Ser223Phe	rs772806721	missense variant	-	NC_000017.11:g.72122955C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser223Cys	rs772806721	missense variant	-	NC_000017.11:g.72122955C>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser223Tyr	rs772806721	missense variant	-	NC_000017.11:g.72122955C>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro224Leu	rs1262569164	missense variant	-	NC_000017.11:g.72122958C>T	TOPMed
SOX9	P48436	p.Gly225Ser	rs759320911	missense variant	-	NC_000017.11:g.72122960G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Glu226Lys	rs1197125838	missense variant	-	NC_000017.11:g.72122963G>A	gnomAD
SOX9	P48436	p.His227Leu	rs752582434	missense variant	-	NC_000017.11:g.72122967A>T	ExAC,gnomAD
SOX9	P48436	p.Ser228Pro	rs756077595	missense variant	-	NC_000017.11:g.72122969T>C	ExAC,gnomAD
SOX9	P48436	p.Gln230Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.72123545C>T	NCI-TCGA
SOX9	P48436	p.Gly233AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72123553G>-	NCI-TCGA
SOX9	P48436	p.Pro235Ala	COSM473290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72123560C>G	NCI-TCGA Cosmic
SOX9	P48436	p.Pro235HisPheSerTerUnkUnk	COSM1563677	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123555_72123556insCC	NCI-TCGA Cosmic
SOX9	P48436	p.Pro235Gln	rs984877127	missense variant	-	NC_000017.11:g.72123561C>A	TOPMed
SOX9	P48436	p.Pro237ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72123564_72123565CC>-	NCI-TCGA
SOX9	P48436	p.Pro238Ter	RCV000722507	frameshift	-	NC_000017.11:g.72123566_72123567dup	ClinVar
SOX9	P48436	p.Pro238Ala	rs1329065873	missense variant	-	NC_000017.11:g.72123569C>G	gnomAD
SOX9	P48436	p.Thr239Pro	rs1275128261	missense variant	-	NC_000017.11:g.72123572A>C	TOPMed,gnomAD
SOX9	P48436	p.Thr240Ser	rs749798911	missense variant	-	NC_000017.11:g.72123576C>G	ExAC,gnomAD
SOX9	P48436	p.Thr240Pro	rs1224146749	missense variant	-	NC_000017.11:g.72123575A>C	TOPMed
SOX9	P48436	p.Pro241Ser	rs1233623657	missense variant	-	NC_000017.11:g.72123578C>T	gnomAD
SOX9	P48436	p.Lys242Gln	rs1481515653	missense variant	-	NC_000017.11:g.72123581A>C	TOPMed,gnomAD
SOX9	P48436	p.Thr243ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72123576C>-	NCI-TCGA
SOX9	P48436	p.Asp244SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72123586_72123592CGACGTG>-	NCI-TCGA
SOX9	P48436	p.Asp244His	rs1407238192	missense variant	-	NC_000017.11:g.72123587G>C	TOPMed,gnomAD
SOX9	P48436	p.Val245Leu	rs375127115	missense variant	-	NC_000017.11:g.72123590G>T	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Val245Met	rs375127115	missense variant	-	NC_000017.11:g.72123590G>A	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln246Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.72123593C>T	NCI-TCGA
SOX9	P48436	p.Gln246Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123593C>A	NCI-TCGA
SOX9	P48436	p.Gln246Pro	rs773882079	missense variant	-	NC_000017.11:g.72123594A>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln246Ter	RCV000485751	frameshift	-	NC_000017.11:g.72123595del	ClinVar
SOX9	P48436	p.Gln246Ter	RCV000002615	frameshift	Camptomelic dysplasia	NC_000017.11:g.72123593dup	ClinVar
SOX9	P48436	p.Gln246Ter	RCV000002616	frameshift	Campomelic dysplasia with autosomal sex reversal	NC_000017.11:g.72123593dup	ClinVar
SOX9	P48436	p.Pro247Thr	rs566929141	missense variant	-	NC_000017.11:g.72123596C>A	1000Genomes,ExAC,gnomAD
SOX9	P48436	p.Pro247Leu	rs1460431767	missense variant	-	NC_000017.11:g.72123597C>T	gnomAD
SOX9	P48436	p.Asp251Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123608G>A	NCI-TCGA
SOX9	P48436	p.Asp251Tyr	rs534044974	missense variant	-	NC_000017.11:g.72123608G>T	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Leu252Pro	rs775182990	missense variant	-	NC_000017.11:g.72123612T>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Arg254Leu	rs183824168	missense variant	-	NC_000017.11:g.72123618G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Arg254Pro	rs183824168	missense variant	-	NC_000017.11:g.72123618G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Glu255GlyPheSerTerUnkUnk	COSM1385632	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123618_72123619GA>-	NCI-TCGA Cosmic
SOX9	P48436	p.Gly256ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72123617_72123618insGA	NCI-TCGA
SOX9	P48436	p.Arg257His	COSM983754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72123627G>A	NCI-TCGA Cosmic
SOX9	P48436	p.Arg257GlyPheSerTerUnkUnk	COSM273571	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123621_72123622insGG	NCI-TCGA Cosmic
SOX9	P48436	p.Arg257Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123626C>T	NCI-TCGA
SOX9	P48436	p.Arg257AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72123621_72123622insG	NCI-TCGA
SOX9	P48436	p.Arg257Pro	rs1220067083	missense variant	-	NC_000017.11:g.72123627G>C	gnomAD
SOX9	P48436	p.Pro258GlyPheSerTerUnkUnk	COSM5129909	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123621_72123622insGGGGC	NCI-TCGA Cosmic
SOX9	P48436	p.Pro258Leu	rs761682807	missense variant	-	NC_000017.11:g.72123630C>T	ExAC,gnomAD
SOX9	P48436	p.Pro258Arg	rs761682807	missense variant	-	NC_000017.11:g.72123630C>G	ExAC,gnomAD
SOX9	P48436	p.Pro258Thr	rs1295597096	missense variant	-	NC_000017.11:g.72123629C>A	gnomAD
SOX9	P48436	p.Glu261Ter	RCV000593996	nonsense	-	NC_000017.11:g.72123638G>T	ClinVar
SOX9	P48436	p.Glu261ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72123634_72123635insC	NCI-TCGA
SOX9	P48436	p.Glu261Ter	rs1555629290	stop gained	-	NC_000017.11:g.72123638G>T	-
SOX9	P48436	p.Glu261Asp	rs751690259	missense variant	-	NC_000017.11:g.72123640G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Glu261Asp	rs751690259	missense variant	-	NC_000017.11:g.72123640G>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly262Arg	rs767836798	missense variant	-	NC_000017.11:g.72123641G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly262Arg	rs767836798	missense variant	-	NC_000017.11:g.72123641G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly262Val	rs1196485591	missense variant	-	NC_000017.11:g.72123642G>T	TOPMed
SOX9	P48436	p.Gly263AlaPheSerTerUnkUnk	COSM4729222	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123640G>-	NCI-TCGA Cosmic
SOX9	P48436	p.Gly263Asp	rs756469416	missense variant	-	NC_000017.11:g.72123645G>A	ExAC,TOPMed
SOX9	P48436	p.Gly263Ser	rs752926968	missense variant	-	NC_000017.11:g.72123644G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly263Val	rs756469416	missense variant	-	NC_000017.11:g.72123645G>T	ExAC,TOPMed
SOX9	P48436	p.Arg264GlnPheSerTerUnkUnk	COSM1385633	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123639_72123640insG	NCI-TCGA Cosmic
SOX9	P48436	p.Arg264Lys	rs778047936	missense variant	-	NC_000017.11:g.72123648G>A	ExAC,gnomAD
SOX9	P48436	p.Gln265Ter	COSM5071605	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123650C>T	NCI-TCGA Cosmic
SOX9	P48436	p.Gln265Glu	rs949594699	missense variant	-	NC_000017.11:g.72123650C>G	TOPMed
SOX9	P48436	p.Pro266Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123654C>T	NCI-TCGA
SOX9	P48436	p.Pro266Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123653C>A	NCI-TCGA
SOX9	P48436	p.Pro267Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123657C>T	NCI-TCGA
SOX9	P48436	p.Pro267His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123657C>A	NCI-TCGA
SOX9	P48436	p.Ile268Val	rs757709630	missense variant	-	NC_000017.11:g.72123659A>G	ExAC,gnomAD
SOX9	P48436	p.Asp269Glu	rs778335883	missense variant	-	NC_000017.11:g.72123664C>A	ExAC,gnomAD
SOX9	P48436	p.Phe270Leu	COSM1385634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72123667C>A	NCI-TCGA Cosmic
SOX9	P48436	p.Phe270Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123665T>A	NCI-TCGA
SOX9	P48436	p.Arg271Cys	rs771635102	missense variant	-	NC_000017.11:g.72123668C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Arg271Gly	rs771635102	missense variant	-	NC_000017.11:g.72123668C>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Val273Leu	rs201477430	missense variant	-	NC_000017.11:g.72123674G>C	TOPMed,gnomAD
SOX9	P48436	p.Asp274TrpPheSerTerUnk	COSM1563676	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123673_72123674insGT	NCI-TCGA Cosmic
SOX9	P48436	p.Gly276Ser	rs768444599	missense variant	-	NC_000017.11:g.72123683G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly276Arg	rs768444599	missense variant	-	NC_000017.11:g.72123683G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Glu277Asp	rs776317419	missense variant	-	NC_000017.11:g.72123688G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser280Gly	rs761747688	missense variant	-	NC_000017.11:g.72123695A>G	ExAC,gnomAD
SOX9	P48436	p.Asp281Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123698G>A	NCI-TCGA
SOX9	P48436	p.Asp281Glu	rs769869469	missense variant	-	NC_000017.11:g.72123700C>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ile283Met	rs1213053148	missense variant	-	NC_000017.11:g.72123706C>G	TOPMed,gnomAD
SOX9	P48436	p.Glu287Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123718G>T	NCI-TCGA
SOX9	P48436	p.Glu287Gln	rs767748183	missense variant	-	NC_000017.11:g.72123716G>C	ExAC,gnomAD
SOX9	P48436	p.Thr288Asn	rs1212728212	missense variant	-	NC_000017.11:g.72123720C>A	TOPMed,gnomAD
SOX9	P48436	p.Phe289Leu	rs752943571	missense variant	-	NC_000017.11:g.72123724C>A	ExAC,gnomAD
SOX9	P48436	p.Asp290Asn	COSM3521540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72123725G>A	NCI-TCGA Cosmic
SOX9	P48436	p.Asp290ArgPheSerTerUnk	COSM272219	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123723_72123724insC	NCI-TCGA Cosmic
SOX9	P48436	p.Asp290Glu	rs1193731490	missense variant	-	NC_000017.11:g.72123727T>A	gnomAD
SOX9	P48436	p.Val291AlaPheSerTerUnkUnk	COSM1385636	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123729T>-	NCI-TCGA Cosmic
SOX9	P48436	p.Val291Ile	rs1243362743	missense variant	-	NC_000017.11:g.72123728G>A	gnomAD
SOX9	P48436	p.Asn292Thr	rs1174668473	missense variant	-	NC_000017.11:g.72123732A>C	TOPMed
SOX9	P48436	p.Asn292Lys	rs1474111123	missense variant	-	NC_000017.11:g.72123733C>G	TOPMed,gnomAD
SOX9	P48436	p.Glu293GlnPheSerTerUnk	COSM1385635	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123728_72123729insTCAA	NCI-TCGA Cosmic
SOX9	P48436	p.Asp295GluPheSerTerUnkUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.72123741_72123742insGGAGGAGTGTGGCAGTTTGCCATATTAAAACCAGATAAGCAAGT	NCI-TCGA
SOX9	P48436	p.Gln296Pro	rs961884103	missense variant	-	NC_000017.11:g.72123744A>C	gnomAD
SOX9	P48436	p.Gln296Arg	rs961884103	missense variant	-	NC_000017.11:g.72123744A>G	gnomAD
SOX9	P48436	p.Asn301Ser	rs1175902013	missense variant	-	NC_000017.11:g.72123759A>G	gnomAD
SOX9	P48436	p.Gly302Val	rs1319504499	missense variant	-	NC_000017.11:g.72123762G>T	gnomAD
SOX9	P48436	p.Gly302Ser	rs1414403898	missense variant	-	NC_000017.11:g.72123761G>A	gnomAD
SOX9	P48436	p.His303Gln	rs1347071167	missense variant	-	NC_000017.11:g.72123766C>G	TOPMed,gnomAD
SOX9	P48436	p.Pro304Ala	rs994687929	missense variant	-	NC_000017.11:g.72123767C>G	TOPMed,gnomAD
SOX9	P48436	p.Pro304Thr	rs994687929	missense variant	-	NC_000017.11:g.72123767C>A	TOPMed,gnomAD
SOX9	P48436	p.Gly305Ala	RCV000260711	missense variant	Camptomelic dysplasia	NC_000017.11:g.72123771G>C	ClinVar
SOX9	P48436	p.Gly305Ala	rs143697828	missense variant	-	NC_000017.11:g.72123771G>C	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Val306GlyPheSerTerUnkUnkUnk	COSM4611928	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123768_72123769insG	NCI-TCGA Cosmic
SOX9	P48436	p.Val306CysPheSerTerUnkUnk	COSM1385637	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123769G>-	NCI-TCGA Cosmic
SOX9	P48436	p.Val306Leu	rs779386878	missense variant	-	NC_000017.11:g.72123773G>T	ExAC,gnomAD
SOX9	P48436	p.Pro307CysPheSerTerUnkUnk	COSM1385638	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123772_72123773insGT	NCI-TCGA Cosmic
SOX9	P48436	p.Pro307Ser	rs1286206233	missense variant	-	NC_000017.11:g.72123776C>T	gnomAD
SOX9	P48436	p.Pro307Arg	RCV000332214	missense variant	Camptomelic dysplasia	NC_000017.11:g.72123777C>G	ClinVar
SOX9	P48436	p.Pro307Arg	rs202028563	missense variant	-	NC_000017.11:g.72123777C>G	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro307Leu	rs202028563	missense variant	-	NC_000017.11:g.72123777C>T	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala308Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123779G>T	NCI-TCGA
SOX9	P48436	p.Ala308Thr	rs746628734	missense variant	-	NC_000017.11:g.72123779G>A	ExAC,gnomAD
SOX9	P48436	p.His310Asp	rs780987236	missense variant	-	NC_000017.11:g.72123785C>G	ExAC,gnomAD
SOX9	P48436	p.His310Gln	rs138423956	missense variant	-	NC_000017.11:g.72123787C>A	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly311Ser	rs769781671	missense variant	-	NC_000017.11:g.72123788G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Thr316Ala	rs1316101365	missense variant	-	NC_000017.11:g.72123803A>G	TOPMed
SOX9	P48436	p.Thr316Met	rs1399089944	missense variant	-	NC_000017.11:g.72123804C>T	TOPMed,gnomAD
SOX9	P48436	p.Gly317Asp	rs749288263	missense variant	-	NC_000017.11:g.72123807G>A	ExAC,gnomAD
SOX9	P48436	p.Gly320Ser	rs772231279	missense variant	-	NC_000017.11:g.72123815G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser322Asn	RCV000519049	missense variant	-	NC_000017.11:g.72123822G>A	ClinVar
SOX9	P48436	p.Ser322Asn	RCV000823160	missense variant	Camptomelic dysplasia	NC_000017.11:g.72123822G>A	ClinVar
SOX9	P48436	p.Ser322Asn	rs1239456905	missense variant	-	NC_000017.11:g.72123822G>A	TOPMed,gnomAD
SOX9	P48436	p.Thr324Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123827A>G	NCI-TCGA
SOX9	P48436	p.Ala325Val	rs1348433812	missense variant	-	NC_000017.11:g.72123831C>T	gnomAD
SOX9	P48436	p.Ala326Ser	rs143983059	missense variant	-	NC_000017.11:g.72123833G>T	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Thr327Ile	rs776977497	missense variant	-	NC_000017.11:g.72123837C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Thr327Asn	rs776977497	missense variant	-	NC_000017.11:g.72123837C>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro328Leu	rs1451445875	missense variant	-	NC_000017.11:g.72123840C>T	gnomAD
SOX9	P48436	p.Pro328Ser	rs1266191864	missense variant	-	NC_000017.11:g.72123839C>T	gnomAD
SOX9	P48436	p.Pro328Arg	rs1451445875	missense variant	-	NC_000017.11:g.72123840C>G	gnomAD
SOX9	P48436	p.Ala329Val	rs886053351	missense variant	-	NC_000017.11:g.72123843C>T	-
SOX9	P48436	p.Ala329Val	RCV000389355	missense variant	Camptomelic dysplasia	NC_000017.11:g.72123843C>T	ClinVar
SOX9	P48436	p.Ser330Ile	rs1243340307	missense variant	-	NC_000017.11:g.72123846G>T	TOPMed,gnomAD
SOX9	P48436	p.Ser330Thr	rs1243340307	missense variant	-	NC_000017.11:g.72123846G>C	TOPMed,gnomAD
SOX9	P48436	p.Ala331Glu	rs751049318	missense variant	-	NC_000017.11:g.72123849C>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala331Pro	rs199887368	missense variant	-	NC_000017.11:g.72123848G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala331Thr	rs199887368	missense variant	-	NC_000017.11:g.72123848G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala331Val	rs751049318	missense variant	-	NC_000017.11:g.72123849C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gly332Ser	rs747845908	missense variant	-	NC_000017.11:g.72123851G>A	ExAC,gnomAD
SOX9	P48436	p.His333Arg	rs1293001310	missense variant	-	NC_000017.11:g.72123855A>G	TOPMed
SOX9	P48436	p.Val334Leu	rs777735151	missense variant	-	NC_000017.11:g.72123857G>T	ExAC,gnomAD
SOX9	P48436	p.Val334Leu	rs777735151	missense variant	-	NC_000017.11:g.72123857G>C	ExAC,gnomAD
SOX9	P48436	p.Trp335Cys	rs1333697254	missense variant	-	NC_000017.11:g.72123862G>T	gnomAD
SOX9	P48436	p.Met336Val	rs1409147937	missense variant	-	NC_000017.11:g.72123863A>G	gnomAD
SOX9	P48436	p.Ser337Ala	rs774405051	missense variant	-	NC_000017.11:g.72123866T>G	ExAC,gnomAD
SOX9	P48436	p.Ser337Tyr	rs1336360702	missense variant	-	NC_000017.11:g.72123867C>A	gnomAD
SOX9	P48436	p.Lys338Arg	rs1264553569	missense variant	-	NC_000017.11:g.72123870A>G	gnomAD
SOX9	P48436	p.Gln340Ter	RCV000578794	nonsense	-	NC_000017.11:g.72123875C>T	ClinVar
SOX9	P48436	p.Gln340Ter	rs1339655148	stop gained	-	NC_000017.11:g.72123875C>T	gnomAD
SOX9	P48436	p.Ala341Val	rs1253122988	missense variant	-	NC_000017.11:g.72123879C>T	TOPMed,gnomAD
SOX9	P48436	p.Pro342Leu	rs1182134893	missense variant	-	NC_000017.11:g.72123882C>T	gnomAD
SOX9	P48436	p.Pro343Leu	rs1258787580	missense variant	-	NC_000017.11:g.72123885C>T	gnomAD
SOX9	P48436	p.Pro345Ser	RCV000756679	missense variant	-	NC_000017.11:g.72123890C>T	ClinVar
SOX9	P48436	p.Pro345Ser	rs768818630	missense variant	-	NC_000017.11:g.72123890C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro346Leu	rs1169811800	missense variant	-	NC_000017.11:g.72123894C>T	gnomAD
SOX9	P48436	p.Pro346Ser	rs1462690222	missense variant	-	NC_000017.11:g.72123893C>T	gnomAD
SOX9	P48436	p.Pro349Ser	rs1428820840	missense variant	-	NC_000017.11:g.72123902C>T	gnomAD
SOX9	P48436	p.Pro349His	rs1313459777	missense variant	-	NC_000017.11:g.72123903C>A	TOPMed,gnomAD
SOX9	P48436	p.Pro350Leu	rs1357275943	missense variant	-	NC_000017.11:g.72123906C>T	gnomAD
SOX9	P48436	p.Gln351Pro	rs949561619	missense variant	-	NC_000017.11:g.72123909A>C	TOPMed
SOX9	P48436	p.Ala352Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123912C>T	NCI-TCGA
SOX9	P48436	p.Pro353Leu	rs762041707	missense variant	-	NC_000017.11:g.72123915C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro353Gln	rs762041707	missense variant	-	NC_000017.11:g.72123915C>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro354_Pro356del	VAR_003742	inframe_deletion	Campomelic dysplasia (CMD1) [MIM:114290]	-	UniProt
SOX9	P48436	p.Ala355Val	rs1320577043	missense variant	-	NC_000017.11:g.72123921C>T	gnomAD
SOX9	P48436	p.Ala355Thr	rs1212048972	missense variant	-	NC_000017.11:g.72123920G>A	TOPMed
SOX9	P48436	p.Ala355Ser	rs1212048972	missense variant	-	NC_000017.11:g.72123920G>T	TOPMed
SOX9	P48436	p.Pro356Leu	rs765542809	missense variant	-	NC_000017.11:g.72123924C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro356Gln	rs765542809	missense variant	-	NC_000017.11:g.72123924C>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro356Arg	rs765542809	missense variant	-	NC_000017.11:g.72123924C>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln357Leu	rs527344892	missense variant	-	NC_000017.11:g.72123927A>T	1000Genomes
SOX9	P48436	p.Ala358Glu	rs773567014	missense variant	-	NC_000017.11:g.72123930C>A	ExAC,gnomAD
SOX9	P48436	p.Pro359Ser	rs1217457548	missense variant	-	NC_000017.11:g.72123932C>T	TOPMed
SOX9	P48436	p.Gln361Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.72123938C>T	NCI-TCGA
SOX9	P48436	p.Gln361Lys	rs1255573826	missense variant	-	NC_000017.11:g.72123938C>A	TOPMed,gnomAD
SOX9	P48436	p.Pro362Ser	rs1429147312	missense variant	-	NC_000017.11:g.72123941C>T	gnomAD
SOX9	P48436	p.Gln363Pro	rs1298472162	missense variant	-	NC_000017.11:g.72123945A>C	TOPMed
SOX9	P48436	p.Ala364Val	rs200133354	missense variant	-	NC_000017.11:g.72123948C>T	1000Genomes,ExAC,TOPMed
SOX9	P48436	p.Ala364Glu	rs200133354	missense variant	-	NC_000017.11:g.72123948C>A	1000Genomes,ExAC,TOPMed
SOX9	P48436	p.Ala364Pro	rs200658115	missense variant	-	NC_000017.11:g.72123947G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala364Thr	rs200658115	missense variant	-	NC_000017.11:g.72123947G>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala364Ser	rs200658115	missense variant	-	NC_000017.11:g.72123947G>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala365Val	rs1201663893	missense variant	-	NC_000017.11:g.72123951C>T	TOPMed
SOX9	P48436	p.Pro366Ser	rs752349944	missense variant	-	NC_000017.11:g.72123953C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro367Ser	rs542727010	missense variant	-	NC_000017.11:g.72123956C>T	1000Genomes,ExAC,gnomAD
SOX9	P48436	p.Pro367Ala	rs542727010	missense variant	-	NC_000017.11:g.72123956C>G	1000Genomes,ExAC,gnomAD
SOX9	P48436	p.Pro367Ter	RCV000505952	frameshift	-	NC_000017.11:g.72123956_72123957delinsG	ClinVar
SOX9	P48436	p.Gln368Ter	RCV000599489	frameshift	-	NC_000017.11:g.72123957dup	ClinVar
SOX9	P48436	p.Gln369Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72123963A>T	NCI-TCGA
SOX9	P48436	p.Gln369Pro	rs1255723826	missense variant	-	NC_000017.11:g.72123963A>C	TOPMed
SOX9	P48436	p.Ala371Glu	rs376470765	missense variant	-	NC_000017.11:g.72123969C>A	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala371Val	rs376470765	missense variant	-	NC_000017.11:g.72123969C>T	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala372Thr	rs745864586	missense variant	-	NC_000017.11:g.72123971G>A	ExAC,gnomAD
SOX9	P48436	p.Pro373Ser	rs1230986531	missense variant	-	NC_000017.11:g.72123974C>T	TOPMed
SOX9	P48436	p.Pro374ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72123974C>-	NCI-TCGA
SOX9	P48436	p.Pro374Gln	rs770013452	missense variant	-	NC_000017.11:g.72123978C>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro374Leu	rs770013452	missense variant	-	NC_000017.11:g.72123978C>T	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro374Thr	rs781278609	missense variant	-	NC_000017.11:g.72123977C>A	ExAC,gnomAD
SOX9	P48436	p.Pro374Ser	rs781278609	missense variant	-	NC_000017.11:g.72123977C>T	ExAC,gnomAD
SOX9	P48436	p.Pro374Arg	rs770013452	missense variant	-	NC_000017.11:g.72123978C>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln378Arg	rs763307623	missense variant	-	NC_000017.11:g.72123990A>G	ExAC,gnomAD
SOX9	P48436	p.Ala379GlyPheSerTerUnk	COSM295047	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72123990_72123991insGG	NCI-TCGA Cosmic
SOX9	P48436	p.Ala379Glu	rs771370458	missense variant	-	NC_000017.11:g.72123993C>A	ExAC,gnomAD
SOX9	P48436	p.His380Arg	rs1239478092	missense variant	-	NC_000017.11:g.72123996A>G	gnomAD
SOX9	P48436	p.Thr384Arg	rs1194444347	missense variant	-	NC_000017.11:g.72124008C>G	TOPMed,gnomAD
SOX9	P48436	p.Thr384Met	rs1194444347	missense variant	-	NC_000017.11:g.72124008C>T	TOPMed,gnomAD
SOX9	P48436	p.Leu385Arg	rs760346231	missense variant	-	NC_000017.11:g.72124011T>G	ExAC,gnomAD
SOX9	P48436	p.Ser386Gly	rs1403005962	missense variant	-	NC_000017.11:g.72124013A>G	TOPMed
SOX9	P48436	p.Glu388Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124012_72124054GAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACG>-	NCI-TCGA
SOX9	P48436	p.Glu388Lys	rs763834941	missense variant	-	NC_000017.11:g.72124019G>A	ExAC,gnomAD
SOX9	P48436	p.Pro389Thr	rs753584114	missense variant	-	NC_000017.11:g.72124022C>A	ExAC,gnomAD
SOX9	P48436	p.Gly390ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124021_72124022insCC	NCI-TCGA
SOX9	P48436	p.Gly390Ser	rs778788591	missense variant	-	NC_000017.11:g.72124025G>A	ExAC,gnomAD
SOX9	P48436	p.Gly390Ala	rs750284138	missense variant	-	NC_000017.11:g.72124026G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln391Arg	rs1327441656	missense variant	-	NC_000017.11:g.72124029A>G	gnomAD
SOX9	P48436	p.Gln393Arg	rs1016657347	missense variant	-	NC_000017.11:g.72124035A>G	TOPMed
SOX9	P48436	p.Arg394Ter	RCV000414443	nonsense	-	NC_000017.11:g.72124037C>T	ClinVar
SOX9	P48436	p.Arg394Ter	RCV000559431	nonsense	Camptomelic dysplasia	NC_000017.11:g.72124037C>T	ClinVar
SOX9	P48436	p.Arg394ProPheSerTerUnkUnkUnk	COSM5078379	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124036_72124037insC	NCI-TCGA Cosmic
SOX9	P48436	p.Arg394Ter	rs1057518216	stop gained	-	NC_000017.11:g.72124037C>T	gnomAD
SOX9	P48436	p.Thr395Ala	COSM983756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72124040A>G	NCI-TCGA Cosmic
SOX9	P48436	p.Thr395Met	rs1301255636	missense variant	-	NC_000017.11:g.72124041C>T	gnomAD
SOX9	P48436	p.His396ArgPheSerTerUnk	COSM4729225	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124040_72124041insCG	NCI-TCGA Cosmic
SOX9	P48436	p.Lys398Arg	rs1057524043	missense variant	-	NC_000017.11:g.72124050A>G	-
SOX9	P48436	p.Lys398Arg	RCV000424986	missense variant	-	NC_000017.11:g.72124050A>G	ClinVar
SOX9	P48436	p.Thr399Lys	rs1241721586	missense variant	-	NC_000017.11:g.72124053C>A	gnomAD
SOX9	P48436	p.Glu400GlyPheSerTerUnkUnkUnk	COSM1385640	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124053_72124054insG	NCI-TCGA Cosmic
SOX9	P48436	p.Gln401Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.72124058C>T	NCI-TCGA
SOX9	P48436	p.His406GlnPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124073_72124074insA	NCI-TCGA
SOX9	P48436	p.His406Gln	rs771153279	missense variant	-	NC_000017.11:g.72124075C>A	ExAC,gnomAD
SOX9	P48436	p.His406Arg	rs1351218311	missense variant	-	NC_000017.11:g.72124074A>G	TOPMed
SOX9	P48436	p.Tyr407His	rs1255091750	missense variant	-	NC_000017.11:g.72124076T>C	TOPMed,gnomAD
SOX9	P48436	p.Ser408ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124072_72124073insCACTA	NCI-TCGA
SOX9	P48436	p.Ser408Ile	rs1025099692	missense variant	-	NC_000017.11:g.72124080G>T	TOPMed,gnomAD
SOX9	P48436	p.Gln410Leu	rs1420807868	missense variant	-	NC_000017.11:g.72124086A>T	gnomAD
SOX9	P48436	p.Gln410His	rs1156784760	missense variant	-	NC_000017.11:g.72124087G>T	gnomAD
SOX9	P48436	p.Gln411Ter	COSM1563675	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124088C>T	NCI-TCGA Cosmic
SOX9	P48436	p.Gln412Ter	COSM5073885	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124091C>T	NCI-TCGA Cosmic
SOX9	P48436	p.Gln412Lys	rs1341243329	missense variant	-	NC_000017.11:g.72124091C>A	TOPMed
SOX9	P48436	p.His413Gln	NCI-TCGA novel	inframe deletion	-	NC_000017.11:g.72124096_72124098CTC>-	NCI-TCGA
SOX9	P48436	p.His413LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124094_72124095insTG	NCI-TCGA
SOX9	P48436	p.Ser414Leu	rs772647517	missense variant	-	NC_000017.11:g.72124098C>T	ExAC,gnomAD
SOX9	P48436	p.Gln416AsnPheSerTerUnkUnk	COSM1385643	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124100C>-	NCI-TCGA Cosmic
SOX9	P48436	p.Gln416Glu	rs776205397	missense variant	-	NC_000017.11:g.72124103C>G	ExAC,gnomAD
SOX9	P48436	p.Gln417Lys	rs886043831	missense variant	-	NC_000017.11:g.72124106C>A	gnomAD
SOX9	P48436	p.Gln417His	rs760231551	missense variant	-	NC_000017.11:g.72124108G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln417Ter	RCV000350079	nonsense	-	NC_000017.11:g.72124106C>T	ClinVar
SOX9	P48436	p.Gln417Arg	rs1347733578	missense variant	-	NC_000017.11:g.72124107A>G	gnomAD
SOX9	P48436	p.Gln417Ter	rs886043831	stop gained	-	NC_000017.11:g.72124106C>T	gnomAD
SOX9	P48436	p.Ile418Met	rs763744617	missense variant	-	NC_000017.11:g.72124111C>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ala419Thr	rs1374439151	missense variant	-	NC_000017.11:g.72124112G>A	gnomAD
SOX9	P48436	p.Tyr420Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72124116A>G	NCI-TCGA
SOX9	P48436	p.Ser421Ter	RCV000413214	frameshift	-	NC_000017.11:g.72124119_72124135del	ClinVar
SOX9	P48436	p.Phe423SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124124T>-	NCI-TCGA
SOX9	P48436	p.His427AsnPheSerTerUnkUnk	COSM5076428	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124134_72124135insGA	NCI-TCGA Cosmic
SOX9	P48436	p.His427Arg	rs201994187	missense variant	-	NC_000017.11:g.72124137A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.His427Leu	rs201994187	missense variant	-	NC_000017.11:g.72124137A>T	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Tyr428His	rs750242391	missense variant	-	NC_000017.11:g.72124139T>C	ExAC,gnomAD
SOX9	P48436	p.Ser429Arg	rs758181921	missense variant	-	NC_000017.11:g.72124144C>A	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser429Gly	rs1221019467	missense variant	-	NC_000017.11:g.72124142A>G	TOPMed,gnomAD
SOX9	P48436	p.Ser429Arg	RCV000756681	missense variant	-	NC_000017.11:g.72124144C>A	ClinVar
SOX9	P48436	p.Pro430Ser	rs886042200	missense variant	-	NC_000017.11:g.72124145C>T	TOPMed,gnomAD
SOX9	P48436	p.Pro430Ser	RCV000323482	missense variant	-	NC_000017.11:g.72124145C>T	ClinVar
SOX9	P48436	p.Pro434Leu	rs1441332525	missense variant	-	NC_000017.11:g.72124158C>T	TOPMed
SOX9	P48436	p.Ile435SerPheSerTerUnkUnk	COSM4729232	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124157C>-	NCI-TCGA Cosmic
SOX9	P48436	p.Ile435Val	rs202126529	missense variant	-	NC_000017.11:g.72124160A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Thr436Ala	rs1218723878	missense variant	-	NC_000017.11:g.72124163A>G	TOPMed
SOX9	P48436	p.Arg437Leu	rs1410903036	missense variant	-	NC_000017.11:g.72124167G>T	gnomAD
SOX9	P48436	p.Arg437Cys	rs1189441865	missense variant	-	NC_000017.11:g.72124166C>T	TOPMed,gnomAD
SOX9	P48436	p.Arg437His	rs1410903036	missense variant	-	NC_000017.11:g.72124167G>A	gnomAD
SOX9	P48436	p.Arg437Gly	rs1189441865	missense variant	-	NC_000017.11:g.72124166C>G	TOPMed,gnomAD
SOX9	P48436	p.Tyr440ValPheSerTerUnkUnkUnk	COSM1385644	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124173_72124174insG	NCI-TCGA Cosmic
SOX9	P48436	p.Tyr440Ter	rs80338688	stop gained	-	NC_000017.11:g.72124177C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Tyr440Ter	RCV000020282	nonsense	Camptomelic dysplasia	NC_000017.11:g.72124177C>A	ClinVar
SOX9	P48436	p.Tyr440Ter	RCV000310390	nonsense	-	NC_000017.11:g.72124177C>A	ClinVar
SOX9	P48436	p.Tyr440Ter	rs80338688	stop gained	-	NC_000017.11:g.72124177C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Tyr440Ter	RCV000321802	nonsense	-	NC_000017.11:g.72124177C>G	ClinVar
SOX9	P48436	p.Tyr440Ter	RCV000020283	nonsense	Camptomelic dysplasia	NC_000017.11:g.72124177C>G	ClinVar
SOX9	P48436	p.Tyr440Ter	RCV000002617	nonsense	Campomelic dysplasia with autosomal sex reversal	NC_000017.11:g.72124177C>G	ClinVar
SOX9	P48436	p.Asp441GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124177_72124178insG	NCI-TCGA
SOX9	P48436	p.Asp441Gly	rs746230444	missense variant	-	NC_000017.11:g.72124179A>G	ExAC,gnomAD
SOX9	P48436	p.Asp441Asn	rs372158546	missense variant	-	NC_000017.11:g.72124178G>A	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Asp441Tyr	rs372158546	missense variant	-	NC_000017.11:g.72124178G>T	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Asp444Glu	COSM473291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72124189C>A	NCI-TCGA Cosmic
SOX9	P48436	p.Asp444Asn	rs551719325	missense variant	-	NC_000017.11:g.72124187G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Asp444Tyr	rs551719325	missense variant	-	NC_000017.11:g.72124187G>T	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln446His	rs776117304	missense variant	-	NC_000017.11:g.72124195G>C	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Ser448Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72124200C>T	NCI-TCGA
SOX9	P48436	p.Ser448Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124200_72124201CC>-	NCI-TCGA
SOX9	P48436	p.Ser449Asn	rs1339956380	missense variant	-	NC_000017.11:g.72124203G>A	TOPMed
SOX9	P48436	p.Ser450Cys	rs747539655	missense variant	-	NC_000017.11:g.72124206C>G	ExAC,gnomAD
SOX9	P48436	p.Tyr451PhePheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124204_72124205insTCCT	NCI-TCGA
SOX9	P48436	p.Ser453Asn	rs768237701	missense variant	-	NC_000017.11:g.72124215G>A	ExAC,gnomAD
SOX9	P48436	p.Ala455Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72124221C>G	NCI-TCGA
SOX9	P48436	p.Ala455Pro	rs761310703	missense variant	-	NC_000017.11:g.72124220G>C	ExAC,gnomAD
SOX9	P48436	p.Ala455Val	rs1298811626	missense variant	-	NC_000017.11:g.72124221C>T	TOPMed
SOX9	P48436	p.Ala456Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72124224C>A	NCI-TCGA
SOX9	P48436	p.Ala456Val	rs764925787	missense variant	-	NC_000017.11:g.72124224C>T	ExAC,gnomAD
SOX9	P48436	p.Gly457Ser	rs772810129	missense variant	-	NC_000017.11:g.72124226G>A	ExAC,gnomAD
SOX9	P48436	p.Gly457Asp	rs375186985	missense variant	-	NC_000017.11:g.72124227G>A	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln458Ter	RCV000578277	nonsense	Camptomelic dysplasia	NC_000017.11:g.72124229C>T	ClinVar
SOX9	P48436	p.Gln458Ter	rs1555629443	stop gained	-	NC_000017.11:g.72124229C>T	-
SOX9	P48436	p.Gly459Val	COSM4927892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72124233G>T	NCI-TCGA Cosmic
SOX9	P48436	p.Gly459Ser	rs1359136483	missense variant	-	NC_000017.11:g.72124232G>A	TOPMed
SOX9	P48436	p.Gly459Asp	rs1298027378	missense variant	-	NC_000017.11:g.72124233G>A	TOPMed
SOX9	P48436	p.Gly461Ser	rs749321589	missense variant	-	NC_000017.11:g.72124238G>A	ExAC,gnomAD
SOX9	P48436	p.Phe466Leu	rs1421182389	missense variant	-	NC_000017.11:g.72124253T>C	gnomAD
SOX9	P48436	p.Thr467Ile	rs1451788454	missense variant	-	NC_000017.11:g.72124257C>T	gnomAD
SOX9	P48436	p.Met469Val	rs769269532	missense variant	-	NC_000017.11:g.72124262A>G	ExAC,TOPMed,gnomAD
SOX9	P48436	p.Asn470Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72124265A>G	NCI-TCGA
SOX9	P48436	p.Pro471Ser	rs1370265316	missense variant	-	NC_000017.11:g.72124268C>T	gnomAD
SOX9	P48436	p.Ala472Val	rs757341162	missense variant	-	NC_000017.11:g.72124272C>T	ExAC
SOX9	P48436	p.Ala472Thr	rs1336660139	missense variant	-	NC_000017.11:g.72124271G>A	gnomAD
SOX9	P48436	p.Gln473His	rs533961694	missense variant	-	NC_000017.11:g.72124276G>T	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Gln473Arg	rs1064796718	missense variant	-	NC_000017.11:g.72124275A>G	-
SOX9	P48436	p.Gln473Arg	RCV000485037	missense variant	-	NC_000017.11:g.72124275A>G	ClinVar
SOX9	P48436	p.Arg474Cys	COSM983759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72124277C>T	NCI-TCGA Cosmic
SOX9	P48436	p.Arg474Leu	rs746125506	missense variant	-	NC_000017.11:g.72124278G>T	ExAC,gnomAD
SOX9	P48436	p.Arg474His	rs746125506	missense variant	-	NC_000017.11:g.72124278G>A	ExAC,gnomAD
SOX9	P48436	p.Pro475Leu	rs1289718828	missense variant	-	NC_000017.11:g.72124281C>T	gnomAD
SOX9	P48436	p.Met476Thr	rs1057518669	missense variant	-	NC_000017.11:g.72124284T>C	-
SOX9	P48436	p.Met476Thr	RCV000415154	missense variant	Camptomelic dysplasia	NC_000017.11:g.72124284T>C	ClinVar
SOX9	P48436	p.Met476Val	rs1487296092	missense variant	-	NC_000017.11:g.72124283A>G	TOPMed
SOX9	P48436	p.Met476Ile	rs1367603516	missense variant	-	NC_000017.11:g.72124285G>A	gnomAD
SOX9	P48436	p.Thr478HisPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124287_72124288insC	NCI-TCGA
SOX9	P48436	p.Ile480ProPheSerTerUnkUnk	COSM5071119	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124286_72124287insAC	NCI-TCGA Cosmic
SOX9	P48436	p.Ala481Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72124299C>G	NCI-TCGA
SOX9	P48436	p.Ala481Thr	rs1348267601	missense variant	-	NC_000017.11:g.72124298G>A	gnomAD
SOX9	P48436	p.Asp482Asn	rs865937701	missense variant	-	NC_000017.11:g.72124301G>A	TOPMed,gnomAD
SOX9	P48436	p.Thr483Asn	rs769297621	missense variant	-	NC_000017.11:g.72124305C>A	ExAC,gnomAD
SOX9	P48436	p.Ser484Ala	COSM983760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72124307T>G	NCI-TCGA Cosmic
SOX9	P48436	p.Ser484Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72124308C>T	NCI-TCGA
SOX9	P48436	p.Gly485Trp	rs777058267	missense variant	-	NC_000017.11:g.72124310G>T	ExAC,gnomAD
SOX9	P48436	p.Val486Ile	rs1287394939	missense variant	-	NC_000017.11:g.72124313G>A	TOPMed
SOX9	P48436	p.Ile489Val	rs1187474984	missense variant	-	NC_000017.11:g.72124322A>G	gnomAD
SOX9	P48436	p.Pro490Leu	rs769231694	missense variant	-	NC_000017.11:g.72124326C>T	ExAC,gnomAD
SOX9	P48436	p.Pro490Ser	rs1389968384	missense variant	-	NC_000017.11:g.72124325C>T	gnomAD
SOX9	P48436	p.Gln491Glu	rs1208288758	missense variant	-	NC_000017.11:g.72124328C>G	TOPMed
SOX9	P48436	p.Ser494Asn	COSM3890295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.72124338G>A	NCI-TCGA Cosmic
SOX9	P48436	p.Ser494Arg	rs189130850	missense variant	-	NC_000017.11:g.72124339C>A	1000Genomes,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Pro495Leu	rs774137173	missense variant	-	NC_000017.11:g.72124341C>T	ExAC
SOX9	P48436	p.Gln496ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.72124338_72124339insC	NCI-TCGA
SOX9	P48436	p.His497Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72124346C>A	NCI-TCGA
SOX9	P48436	p.His497Tyr	NCI-TCGA novel	insertion	-	NC_000017.11:g.72124346_72124347insACT	NCI-TCGA
SOX9	P48436	p.His497Arg	rs759413061	missense variant	-	NC_000017.11:g.72124347A>G	ExAC,gnomAD
SOX9	P48436	p.Pro501Leu	rs1319061093	missense variant	-	NC_000017.11:g.72124359C>T	gnomAD
SOX9	P48436	p.Val502Ile	rs774375417	missense variant	-	NC_000017.11:g.72124361G>A	TOPMed
SOX9	P48436	p.Thr504Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.72124368C>T	NCI-TCGA
SOX9	P48436	p.Thr504Ala	rs149888060	missense variant	-	NC_000017.11:g.72124367A>G	ESP,ExAC,TOPMed,gnomAD
SOX9	P48436	p.Thr507Ser	rs1278118990	missense variant	-	NC_000017.11:g.72124377C>G	TOPMed
SOX9	P48436	p.Pro509Ser	rs757337660	missense variant	-	NC_000017.11:g.72124382C>T	ExAC,gnomAD
SOX9	P48436	p.Ter510SerGluUnkThrTerUnkUnk	COSM437265	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.72124386G>C	NCI-TCGA Cosmic
PCYT1A	P49585	p.Asp2Ala	rs1289492978	missense variant	-	NC_000003.12:g.196270527T>G	TOPMed
PCYT1A	P49585	p.Ala3Glu	rs765878411	missense variant	-	NC_000003.12:g.196270524G>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gln4Arg	rs772648306	missense variant	-	NC_000003.12:g.196270521T>C	ExAC,gnomAD
PCYT1A	P49585	p.Cys5Phe	rs374200334	missense variant	-	NC_000003.12:g.196270518C>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Cys5Arg	rs149559427	missense variant	-	NC_000003.12:g.196270519A>G	TOPMed,gnomAD
PCYT1A	P49585	p.Cys5Tyr	rs374200334	missense variant	-	NC_000003.12:g.196270518C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala11Ser	rs1292608628	missense variant	-	NC_000003.12:g.196270501C>A	gnomAD
PCYT1A	P49585	p.Arg12Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196270497C>T	NCI-TCGA
PCYT1A	P49585	p.Arg15Thr	rs781198337	missense variant	-	NC_000003.12:g.196270488C>G	ExAC,gnomAD
PCYT1A	P49585	p.Lys16Arg	rs768525820	missense variant	-	NC_000003.12:g.196270485T>C	ExAC,gnomAD
PCYT1A	P49585	p.Lys16Glu	rs1315588404	missense variant	-	NC_000003.12:g.196270486T>C	gnomAD
PCYT1A	P49585	p.Glu17Gly	rs1338129212	missense variant	-	NC_000003.12:g.196270482T>C	gnomAD
PCYT1A	P49585	p.Ala18Val	rs746866627	missense variant	-	NC_000003.12:g.196270479G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro19Leu	rs1041304990	missense variant	-	NC_000003.12:g.196270476G>A	TOPMed
PCYT1A	P49585	p.Gly20Arg	rs142952629	missense variant	-	NC_000003.12:g.196270474C>G	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gly20Arg	rs142952629	missense variant	-	NC_000003.12:g.196270474C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro21Thr	rs150416628	missense variant	-	NC_000003.12:g.196270471G>T	1000Genomes,ESP,ExAC,TOPMed
PCYT1A	P49585	p.Pro21Ter	RCV000521748	frameshift	-	NC_000003.12:g.196270472dup	ClinVar
PCYT1A	P49585	p.Pro21Ser	rs150416628	missense variant	-	NC_000003.12:g.196270471G>A	1000Genomes,ESP,ExAC,TOPMed
PCYT1A	P49585	p.Asn22Ser	rs753801861	missense variant	-	NC_000003.12:g.196270467T>C	ExAC,gnomAD
PCYT1A	P49585	p.Gly23Arg	rs756683597	missense variant	-	NC_000003.12:g.196270465C>T	ExAC,gnomAD
PCYT1A	P49585	p.Gly23Glu	rs1309199348	missense variant	-	NC_000003.12:g.196270464C>T	TOPMed
PCYT1A	P49585	p.Thr25Ala	rs200752223	missense variant	-	NC_000003.12:g.196270459T>C	gnomAD
PCYT1A	P49585	p.Gly29Arg	rs371965700	missense variant	-	NC_000003.12:g.196270447C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Val30Phe	rs749118491	missense variant	-	NC_000003.12:g.196270444C>A	TOPMed
PCYT1A	P49585	p.Val30Ile	rs749118491	missense variant	-	NC_000003.12:g.196270444C>T	TOPMed
PCYT1A	P49585	p.Pro31Ser	rs866650732	missense variant	-	NC_000003.12:g.196270441G>A	-
PCYT1A	P49585	p.Pro31Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196270440G>A	NCI-TCGA
PCYT1A	P49585	p.Lys33Arg	rs897503443	missense variant	-	NC_000003.12:g.196270434T>C	TOPMed,gnomAD
PCYT1A	P49585	p.Val34Met	rs1036001219	missense variant	-	NC_000003.12:g.196270432C>T	TOPMed
PCYT1A	P49585	p.Arg36Leu	rs772948955	missense variant	-	NC_000003.12:g.196270425C>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg36His	rs772948955	missense variant	-	NC_000003.12:g.196270425C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg36Cys	rs181492393	missense variant	-	NC_000003.12:g.196270426G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Cys37Tyr	rs556753084	missense variant	-	NC_000003.12:g.196270422C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Cys37Gly	COSM256204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196270423A>C	NCI-TCGA Cosmic
PCYT1A	P49585	p.Ala38Thr	rs761404113	missense variant	-	NC_000003.12:g.196270420C>T	ExAC,gnomAD
PCYT1A	P49585	p.Val39Leu	rs1227619597	missense variant	-	NC_000003.12:g.196270417C>G	gnomAD
PCYT1A	P49585	p.Gly40Asp	rs1274235817	missense variant	-	NC_000003.12:g.196257886C>T	gnomAD
PCYT1A	P49585	p.Arg42Trp	rs142165028	missense variant	-	NC_000003.12:g.196257881G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg42Gln	rs771223117	missense variant	-	NC_000003.12:g.196257880C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro44Gln	rs373774305	missense variant	-	NC_000003.12:g.196257874G>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro44Arg	rs373774305	missense variant	-	NC_000003.12:g.196257874G>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala45Ser	rs770025140	missense variant	-	NC_000003.12:g.196257872C>A	ExAC
PCYT1A	P49585	p.Pro46Ser	rs748171719	missense variant	-	NC_000003.12:g.196257869G>A	ExAC,gnomAD
PCYT1A	P49585	p.Pro46Leu	rs781768969	missense variant	-	NC_000003.12:g.196257868G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Phe47Leu	rs1038475192	missense variant	-	NC_000003.12:g.196257864A>T	TOPMed
PCYT1A	P49585	p.Ser48Cys	rs777509855	missense variant	-	NC_000003.12:g.196257862G>C	ExAC,gnomAD
PCYT1A	P49585	p.Asp49Gly	rs1355304743	missense variant	-	NC_000003.12:g.196257859T>C	gnomAD
PCYT1A	P49585	p.Asp49Asn	COSM3591856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196257860C>T	NCI-TCGA Cosmic
PCYT1A	P49585	p.Glu50Lys	rs752031936	missense variant	-	NC_000003.12:g.196257857C>T	ExAC,gnomAD
PCYT1A	P49585	p.Ile51Thr	rs780253017	missense variant	-	NC_000003.12:g.196257853A>G	ExAC,gnomAD
PCYT1A	P49585	p.Asp54Gly	rs1466833415	missense variant	-	NC_000003.12:g.196257844T>C	gnomAD
PCYT1A	P49585	p.Lys57Asn	rs1388282947	missense variant	-	NC_000003.12:g.196257834C>A	gnomAD
PCYT1A	P49585	p.Tyr59Ser	rs561949003	missense variant	-	NC_000003.12:g.196257829T>G	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Tyr59Ter	rs370657415	stop gained	-	NC_000003.12:g.196257828A>T	ESP,ExAC,gnomAD
PCYT1A	P49585	p.Tyr59Cys	rs561949003	missense variant	-	NC_000003.12:g.196257829T>C	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg61Gly	rs760187621	missense variant	-	NC_000003.12:g.196257824T>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Thr63Ser	rs1481436343	missense variant	-	NC_000003.12:g.196257818T>A	gnomAD
PCYT1A	P49585	p.Met64Val	rs752190012	missense variant	-	NC_000003.12:g.196257815T>C	ExAC,gnomAD
PCYT1A	P49585	p.Glu65Gly	rs1482237707	missense variant	-	NC_000003.12:g.196257811T>C	gnomAD
PCYT1A	P49585	p.Glu65Lys	rs1210245046	missense variant	-	NC_000003.12:g.196257812C>T	TOPMed
PCYT1A	P49585	p.Glu66Asp	rs767556887	missense variant	-	NC_000003.12:g.196257807T>A	ExAC,gnomAD
PCYT1A	P49585	p.Ala67Asp	rs759359405	missense variant	-	NC_000003.12:g.196257805G>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala67Gly	rs759359405	missense variant	-	NC_000003.12:g.196257805G>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser68Asn	COSM4116381	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196257802C>T	NCI-TCGA Cosmic
PCYT1A	P49585	p.Thr71Ser	rs770656499	missense variant	-	NC_000003.12:g.196257794T>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro72Thr	rs199961207	missense variant	-	NC_000003.12:g.196257791G>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Cys73Gly	rs773573877	missense variant	-	NC_000003.12:g.196257788A>C	ExAC,gnomAD
PCYT1A	P49585	p.Arg75Ter	rs1285004802	stop gained	-	NC_000003.12:g.196248318G>A	gnomAD
PCYT1A	P49585	p.Arg75Gln	rs369594442	missense variant	-	NC_000003.12:g.196248317C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg78Thr	rs1237888354	missense variant	-	NC_000003.12:g.196248308C>G	TOPMed
PCYT1A	P49585	p.Val79Ile	rs759039449	missense variant	-	NC_000003.12:g.196248306C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Val79Leu	rs759039449	missense variant	-	NC_000003.12:g.196248306C>G	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Asp82Tyr	rs1454902800	missense variant	-	NC_000003.12:g.196248297C>A	gnomAD
PCYT1A	P49585	p.Asp82Asn	COSM4116380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196248297C>T	NCI-TCGA Cosmic
PCYT1A	P49585	p.Leu87Ter	rs1162073603	stop gained	-	NC_000003.12:g.196248281A>T	TOPMed
PCYT1A	P49585	p.Leu87Phe	rs1157763363	missense variant	-	NC_000003.12:g.196248280T>A	gnomAD
PCYT1A	P49585	p.His89Tyr	rs1455352648	missense variant	-	NC_000003.12:g.196248276G>A	gnomAD
PCYT1A	P49585	p.Ser90Pro	rs1160679788	missense variant	-	NC_000003.12:g.196248273A>G	gnomAD
PCYT1A	P49585	p.Gly91Asp	rs1003483302	missense variant	-	NC_000003.12:g.196248269C>T	TOPMed,gnomAD
PCYT1A	P49585	p.Ala93Thr	rs938675798	missense variant	-	NC_000003.12:g.196248264C>T	TOPMed,gnomAD
PCYT1A	P49585	p.Ala93Ser	rs938675798	missense variant	-	NC_000003.12:g.196248264C>A	TOPMed,gnomAD
PCYT1A	P49585	p.Arg94Gly	rs773131861	missense variant	-	NC_000003.12:g.196248261G>C	ExAC,gnomAD
PCYT1A	P49585	p.Arg94Ter	rs773131861	stop gained	-	NC_000003.12:g.196248261G>A	ExAC,gnomAD
PCYT1A	P49585	p.Ala95Gly	rs566752063	missense variant	-	NC_000003.12:g.196248257G>C	1000Genomes
PCYT1A	P49585	p.Ala99Thr	rs587777191	missense variant	-	NC_000003.12:g.196248246C>T	-
PCYT1A	P49585	p.Ala99Thr	rs587777191	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196248246C>T	UniProt,dbSNP
PCYT1A	P49585	p.Ala99Thr	VAR_071083	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196248246C>T	UniProt
PCYT1A	P49585	p.Ala99Val	rs587777189	missense variant	-	NC_000003.12:g.196248245G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala99Val	rs587777189	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196248245G>A	UniProt,dbSNP
PCYT1A	P49585	p.Ala99Val	VAR_071084	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196248245G>A	UniProt
PCYT1A	P49585	p.Ala99Val	RCV000087314	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196248245G>A	ClinVar
PCYT1A	P49585	p.Ala99Thr	RCV000087316	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196248246C>T	ClinVar
PCYT1A	P49585	p.Ala99Val	RCV000622339	missense variant	Inborn genetic diseases	NC_000003.12:g.196248245G>A	ClinVar
PCYT1A	P49585	p.Asn101Lys	rs776823706	missense variant	-	NC_000003.12:g.196248238G>C	ExAC,gnomAD
PCYT1A	P49585	p.Asn101Ser	COSM4116378	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196248239T>C	NCI-TCGA Cosmic
PCYT1A	P49585	p.Thr106Met	rs939839175	missense variant	-	NC_000003.12:g.196248224G>A	TOPMed
PCYT1A	P49585	p.Ile109Val	rs375791987	missense variant	-	NC_000003.12:g.196248216T>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser114Arg	rs1433265727	missense variant	-	NC_000003.12:g.196247513T>G	gnomAD
PCYT1A	P49585	p.Ser114Ile	rs1442385114	missense variant	-	NC_000003.12:g.196247512C>A	TOPMed
PCYT1A	P49585	p.His119Tyr	rs758461951	missense variant	-	NC_000003.12:g.196247498G>A	ExAC,gnomAD
PCYT1A	P49585	p.Phe121Leu	rs1365763649	missense variant	-	NC_000003.12:g.196247490G>C	gnomAD
PCYT1A	P49585	p.Lys122Arg	rs1235010313	missense variant	-	NC_000003.12:g.196247488T>C	TOPMed
PCYT1A	P49585	p.Thr125Met	rs765196598	missense variant	-	NC_000003.12:g.196247479G>A	ExAC,gnomAD
PCYT1A	P49585	p.Thr125Met	RCV000412999	missense variant	-	NC_000003.12:g.196247479G>A	ClinVar
PCYT1A	P49585	p.Met127Ile	rs1271221173	missense variant	-	NC_000003.12:g.196247472C>G	TOPMed
PCYT1A	P49585	p.Asn128Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196247470T>G	NCI-TCGA
PCYT1A	P49585	p.Glu129Lys	rs587777194	missense variant	-	NC_000003.12:g.196247468C>T	-
PCYT1A	P49585	p.Glu129Lys	rs587777194	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196247468C>T	UniProt,dbSNP
PCYT1A	P49585	p.Glu129Lys	VAR_071085	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196247468C>T	UniProt
PCYT1A	P49585	p.Glu129Lys	RCV000087320	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196247468C>T	ClinVar
PCYT1A	P49585	p.Asn130Ser	rs760919068	missense variant	-	NC_000003.12:g.196247464T>C	ExAC,gnomAD
PCYT1A	P49585	p.Arg132His	rs1205319354	missense variant	-	NC_000003.12:g.196247458C>T	TOPMed
PCYT1A	P49585	p.Arg132Cys	rs772473697	missense variant	-	NC_000003.12:g.196247459G>A	ExAC,gnomAD
PCYT1A	P49585	p.Arg132Ser	COSM1043015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196247459G>T	NCI-TCGA Cosmic
PCYT1A	P49585	p.Tyr133Cys	rs767604749	missense variant	-	NC_000003.12:g.196247455T>C	ExAC,gnomAD
PCYT1A	P49585	p.Ala135Val	rs759570486	missense variant	-	NC_000003.12:g.196247449G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg140Cys	rs771371499	missense variant	-	NC_000003.12:g.196247435G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg140His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196247434C>T	NCI-TCGA
PCYT1A	P49585	p.Val142Met	rs1398190721	missense variant	-	NC_000003.12:g.196247429C>T	TOPMed
PCYT1A	P49585	p.Ala149Val	COSM2947261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196247407G>A	NCI-TCGA Cosmic
PCYT1A	P49585	p.Pro150Ala	rs587777190	missense variant	-	NC_000003.12:g.196247405G>C	gnomAD
PCYT1A	P49585	p.Pro150Ala	rs587777190	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196247405G>C	UniProt,dbSNP
PCYT1A	P49585	p.Pro150Ala	VAR_071086	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196247405G>C	UniProt
PCYT1A	P49585	p.Pro150Ala	RCV000087315	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196247405G>C	ClinVar
PCYT1A	P49585	p.Thr152Met	rs746655391	missense variant	-	NC_000003.12:g.196247398G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Thr152Lys	rs746655391	missense variant	-	NC_000003.12:g.196247398G>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Leu153Arg	rs1243780999	missense variant	-	NC_000003.12:g.196247395A>C	gnomAD
PCYT1A	P49585	p.Thr154Ile	COSM276683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196247392G>A	NCI-TCGA Cosmic
PCYT1A	P49585	p.Pro155Ser	rs771742784	missense variant	-	NC_000003.12:g.196247390G>A	ExAC,gnomAD
PCYT1A	P49585	p.Pro155Leu	rs1293887137	missense variant	-	NC_000003.12:g.196247389G>A	TOPMed
PCYT1A	P49585	p.Glu156Lys	rs779048770	missense variant	-	NC_000003.12:g.196247387C>T	ExAC,gnomAD
PCYT1A	P49585	p.Leu158AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.196247381_196247382insGAACTCGGGTGTCAGCGTC	NCI-TCGA
PCYT1A	P49585	p.Ala159Val	rs1271650484	missense variant	-	NC_000003.12:g.196247377G>A	TOPMed
PCYT1A	P49585	p.Ala159Ser	rs757210925	missense variant	-	NC_000003.12:g.196247378C>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Glu160Gly	rs755814954	missense variant	-	NC_000003.12:g.196247374T>C	ExAC
PCYT1A	P49585	p.Glu160Lys	rs140290837	missense variant	-	NC_000003.12:g.196247375C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.His161Leu	rs1279839195	missense variant	-	NC_000003.12:g.196247371T>A	TOPMed
PCYT1A	P49585	p.Arg162Gln	rs200813228	missense variant	-	NC_000003.12:g.196247368C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg162Trp	rs375663930	missense variant	-	NC_000003.12:g.196247369G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Phe165LeuPheSerTerUnk	rs750339641	frameshift	-	NC_000003.12:g.196242632A>-	NCI-TCGA
PCYT1A	P49585	p.Phe165Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196242634A>C	NCI-TCGA
PCYT1A	P49585	p.Val166Ile	rs888459030	missense variant	-	NC_000003.12:g.196242631C>T	TOPMed
PCYT1A	P49585	p.Asp170Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196242618T>C	NCI-TCGA
PCYT1A	P49585	p.Tyr173Ter	COSM3408548	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.196242608A>C	NCI-TCGA Cosmic
PCYT1A	P49585	p.Ser174Leu	COSM460823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196242606G>A	NCI-TCGA Cosmic
PCYT1A	P49585	p.Ser175Thr	rs778531532	missense variant	-	NC_000003.12:g.196242604A>T	ExAC,gnomAD
PCYT1A	P49585	p.Ala176Val	rs770821991	missense variant	-	NC_000003.12:g.196242600G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gly177Ser	rs1391986278	missense variant	-	NC_000003.12:g.196242598C>T	gnomAD
PCYT1A	P49585	p.Ser178Thr	rs749270094	missense variant	-	NC_000003.12:g.196242594C>G	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Asp179Val	rs777529998	missense variant	-	NC_000003.12:g.196242591T>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Lys186Glu	rs773571578	missense variant	-	NC_000003.12:g.196242571T>C	TOPMed,gnomAD
PCYT1A	P49585	p.Phe191Leu	rs587777195	missense variant	-	NC_000003.12:g.196242085A>G	-
PCYT1A	P49585	p.Phe191Leu	rs587777195	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196242085A>G	UniProt,dbSNP
PCYT1A	P49585	p.Phe191Leu	VAR_071087	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196242085A>G	UniProt
PCYT1A	P49585	p.Phe191Leu	RCV000087321	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196242085A>G	ClinVar
PCYT1A	P49585	p.Thr194Ile	COSM3591853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196242075G>A	NCI-TCGA Cosmic
PCYT1A	P49585	p.Gln195Arg	rs187437949	missense variant	-	NC_000003.12:g.196242072T>C	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gln195Ter	rs1408929771	stop gained	-	NC_000003.12:g.196242073G>A	TOPMed,gnomAD
PCYT1A	P49585	p.Gly199Asp	rs1295174913	missense variant	-	NC_000003.12:g.196242060C>T	gnomAD
PCYT1A	P49585	p.Ile200Met	rs1189822613	missense variant	-	NC_000003.12:g.196242056G>C	gnomAD
PCYT1A	P49585	p.Ser201Phe	rs367857863	missense variant	-	NC_000003.12:g.196242054G>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Thr202Ala	rs1365448084	missense variant	-	NC_000003.12:g.196242052T>C	TOPMed
PCYT1A	P49585	p.Ile205Val	rs1162129680	missense variant	-	NC_000003.12:g.196242043T>C	gnomAD
PCYT1A	P49585	p.Arg208Ter	rs747258330	stop gained	-	NC_000003.12:g.196242034G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg208Gln	rs867290911	missense variant	-	NC_000003.12:g.196242033C>T	-
PCYT1A	P49585	p.Ile209Ser	COSM1485042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196242030A>C	NCI-TCGA Cosmic
PCYT1A	P49585	p.Arg211Trp	rs758512237	missense variant	-	NC_000003.12:g.196242025G>A	ExAC,gnomAD
PCYT1A	P49585	p.Arg211Gln	COSM3774841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196242024C>T	NCI-TCGA Cosmic
PCYT1A	P49585	p.Asp212Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196242020A>C	NCI-TCGA
PCYT1A	P49585	p.Ala217Val	rs375261933	missense variant	-	NC_000003.12:g.196242006G>A	ESP,ExAC,gnomAD
PCYT1A	P49585	p.Arg218Ser	COSM446258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196242002C>A	NCI-TCGA Cosmic
PCYT1A	P49585	p.Arg219Trp	rs1330097122	missense variant	-	NC_000003.12:g.196242001G>A	gnomAD
PCYT1A	P49585	p.Gln222Ter	rs1227589548	stop gained	-	NC_000003.12:g.196241992G>A	gnomAD
PCYT1A	P49585	p.Arg223Ser	rs540053239	missense variant	-	NC_000003.12:g.196241987C>G	-
PCYT1A	P49585	p.Arg223Ser	rs540053239	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196241987C>G	UniProt,dbSNP
PCYT1A	P49585	p.Arg223Ser	VAR_071088	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196241987C>G	UniProt
PCYT1A	P49585	p.Arg223Ser	RCV000087319	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196241987C>G	ClinVar
PCYT1A	P49585	p.Asn236Ser	rs201929666	missense variant	-	NC_000003.12:g.196241949T>C	1000Genomes,ExAC,gnomAD
PCYT1A	P49585	p.Glu237Lys	rs778480685	missense variant	-	NC_000003.12:g.196239735C>T	ExAC,gnomAD
PCYT1A	P49585	p.Leu242Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196239718C>A	NCI-TCGA
PCYT1A	P49585	p.Arg245Ser	rs1339129542	missense variant	-	NC_000003.12:g.196239709C>A	TOPMed
PCYT1A	P49585	p.Lys250Arg	rs781390558	missense variant	-	NC_000003.12:g.196239695T>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Lys254Glu	rs200025823	missense variant	-	NC_000003.12:g.196239684T>C	1000Genomes
PCYT1A	P49585	p.Glu262Ter	COSM1043013	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.196239660C>A	NCI-TCGA Cosmic
PCYT1A	P49585	p.Phe263Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196239656A>C	NCI-TCGA
PCYT1A	P49585	p.Val267Met	rs750077469	missense variant	-	NC_000003.12:g.196239645C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser271AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.196239633T>-	NCI-TCGA
PCYT1A	P49585	p.Ile272Val	rs1156587499	missense variant	-	NC_000003.12:g.196239630T>C	gnomAD
PCYT1A	P49585	p.Leu274Phe	rs753337043	missense variant	-	NC_000003.12:g.196239624G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gln276Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196239617T>C	NCI-TCGA
PCYT1A	P49585	p.Lys277Arg	rs377634842	missense variant	-	NC_000003.12:g.196239614T>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Trp278Arg	rs1439542974	missense variant	-	NC_000003.12:g.196239612A>T	gnomAD
PCYT1A	P49585	p.Lys281SerPheSerTerUnkUnk	COSM1421985	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.196239602T>-	NCI-TCGA Cosmic
PCYT1A	P49585	p.Arg283Ter	rs587777192	stop gained	-	NC_000003.12:g.196239597G>A	TOPMed,gnomAD
PCYT1A	P49585	p.Arg283Gln	rs1282668916	missense variant	-	NC_000003.12:g.196239596C>T	gnomAD
PCYT1A	P49585	p.Arg283Ter	RCV000087317	nonsense	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196239597G>A	ClinVar
PCYT1A	P49585	p.Glu284Asp	rs775447503	missense variant	-	NC_000003.12:g.196239592T>A	ExAC
PCYT1A	P49585	p.Glu284Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.196239594C>A	NCI-TCGA
PCYT1A	P49585	p.Ile286Val	rs771791109	missense variant	-	NC_000003.12:g.196239588T>C	ExAC,gnomAD
PCYT1A	P49585	p.Ile286Thr	rs759307632	missense variant	-	NC_000003.12:g.196239587A>G	ExAC,gnomAD
PCYT1A	P49585	p.Ile286Met	rs1173104415	missense variant	-	NC_000003.12:g.196239586A>C	TOPMed
PCYT1A	P49585	p.Phe289Ser	rs1303263775	missense variant	-	NC_000003.12:g.196239578A>G	gnomAD
PCYT1A	P49585	p.Glu291Gln	rs1232207713	missense variant	-	NC_000003.12:g.196239573C>G	gnomAD
PCYT1A	P49585	p.Gly294Arg	rs1367500129	missense variant	-	NC_000003.12:g.196239564C>G	gnomAD
PCYT1A	P49585	p.Pro295Leu	rs774447329	missense variant	-	NC_000003.12:g.196239560G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Leu299Pro	rs1376024004	missense variant	-	NC_000003.12:g.196239548A>G	gnomAD
PCYT1A	P49585	p.Gly306Arg	rs539292115	missense variant	-	NC_000003.12:g.196238876C>T	1000Genomes,TOPMed
PCYT1A	P49585	p.Gly306Val	COSM270718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196238875C>A	NCI-TCGA Cosmic
PCYT1A	P49585	p.Lys307ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.196238874C>-	NCI-TCGA
PCYT1A	P49585	p.Gly308Asp	rs1183286028	missense variant	-	NC_000003.12:g.196238869C>T	gnomAD
PCYT1A	P49585	p.Arg309Trp	rs963356951	missense variant	-	NC_000003.12:g.196238867G>A	-
PCYT1A	P49585	p.Arg309Gln	rs973487210	missense variant	-	NC_000003.12:g.196238866C>T	TOPMed,gnomAD
PCYT1A	P49585	p.Gln312Ter	rs1240246373	stop gained	-	NC_000003.12:g.196238858G>A	gnomAD
PCYT1A	P49585	p.Gln312Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196238857T>C	NCI-TCGA
PCYT1A	P49585	p.Ala313Thr	rs773520771	missense variant	-	NC_000003.12:g.196238855C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala313Asp	rs571188438	missense variant	-	NC_000003.12:g.196238854G>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala313Val	rs571188438	missense variant	-	NC_000003.12:g.196238854G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ile314Leu	rs1367107619	missense variant	-	NC_000003.12:g.196238852T>G	TOPMed
PCYT1A	P49585	p.Ser315Gly	rs1217573932	missense variant	-	NC_000003.12:g.196238849T>C	TOPMed
PCYT1A	P49585	p.Ser315Asn	rs1305786964	missense variant	-	NC_000003.12:g.196238848C>T	TOPMed,gnomAD
PCYT1A	P49585	p.Ser315Thr	rs1305786964	missense variant	-	NC_000003.12:g.196238848C>G	TOPMed,gnomAD
PCYT1A	P49585	p.Pro316Ser	rs1229173418	missense variant	-	NC_000003.12:g.196238846G>A	gnomAD
PCYT1A	P49585	p.Pro316Leu	rs747402568	missense variant	-	NC_000003.12:g.196238845G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser319Asn	rs751722689	missense variant	-	NC_000003.12:g.196238836C>T	gnomAD
PCYT1A	P49585	p.Ser319Ter	RCV000414367	frameshift	-	NC_000003.12:g.196238836_196238837CT[3]	ClinVar
PCYT1A	P49585	p.Pro320Leu	rs183054905	missense variant	-	NC_000003.12:g.196238833G>A	1000Genomes,ExAC,gnomAD
PCYT1A	P49585	p.Pro320Ser	rs748967839	missense variant	-	NC_000003.12:g.196238834G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser322Gly	rs1166285887	missense variant	-	NC_000003.12:g.196238828T>C	gnomAD
PCYT1A	P49585	p.Ser323Ter	RCV000087322	frameshift	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196238824dup	ClinVar
PCYT1A	P49585	p.Thr325Ala	rs372957517	missense variant	-	NC_000003.12:g.196238819T>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg326His	rs549056100	missense variant	-	NC_000003.12:g.196238815C>T	1000Genomes,TOPMed,gnomAD
PCYT1A	P49585	p.Arg326Gly	rs766301243	missense variant	-	NC_000003.12:g.196238816G>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg326Pro	rs549056100	missense variant	-	NC_000003.12:g.196238815C>G	1000Genomes,TOPMed,gnomAD
PCYT1A	P49585	p.Arg326Cys	rs766301243	missense variant	-	NC_000003.12:g.196238816G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Glu327Gln	rs144403921	missense variant	-	NC_000003.12:g.196238813C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Glu327Lys	rs144403921	missense variant	-	NC_000003.12:g.196238813C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg328Cys	rs61737437	missense variant	-	NC_000003.12:g.196238810G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg328Gly	rs61737437	missense variant	-	NC_000003.12:g.196238810G>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg328His	rs199831548	missense variant	-	NC_000003.12:g.196238809C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg328Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196238809C>A	NCI-TCGA
PCYT1A	P49585	p.Ser329Pro	rs1479942890	missense variant	-	NC_000003.12:g.196238807A>G	gnomAD
PCYT1A	P49585	p.Pro330Ser	rs551412906	missense variant	-	NC_000003.12:g.196238804G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro330Leu	rs1222327977	missense variant	-	NC_000003.12:g.196238803G>A	gnomAD
PCYT1A	P49585	p.Ser331Ala	rs374831064	missense variant	-	NC_000003.12:g.196238801A>C	ESP,ExAC
PCYT1A	P49585	p.Ser331Ter	RCV000087318	frameshift	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196238806del	ClinVar
PCYT1A	P49585	p.Pro332Ser	rs200703149	missense variant	-	NC_000003.12:g.196238798G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg335Gln	rs754397679	missense variant	-	NC_000003.12:g.196238788C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg335Ter	rs551199725	stop gained	-	NC_000003.12:g.196238789G>A	gnomAD
PCYT1A	P49585	p.Trp336Ter	rs751579909	stop gained	-	NC_000003.12:g.196238784C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro337Ser	rs142799242	missense variant	-	NC_000003.12:g.196238783G>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro337His	rs148500335	missense variant	-	NC_000003.12:g.196238782G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro337Leu	rs148500335	missense variant	-	NC_000003.12:g.196238782G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gly340Cys	rs146337013	missense variant	-	NC_000003.12:g.196238774C>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gly340Ser	rs146337013	missense variant	-	NC_000003.12:g.196238774C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro344Leu	rs775986884	missense variant	-	NC_000003.12:g.196238761G>A	ExAC,gnomAD
PCYT1A	P49585	p.Cys346Tyr	rs1468052548	missense variant	-	NC_000003.12:g.196238755C>T	gnomAD
PCYT1A	P49585	p.Cys346Arg	rs772551986	missense variant	-	NC_000003.12:g.196238756A>G	ExAC,gnomAD
PCYT1A	P49585	p.Ser347Ala	rs759958810	missense variant	-	NC_000003.12:g.196238753A>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser347Pro	rs759958810	missense variant	-	NC_000003.12:g.196238753A>G	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser347Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196238752G>A	NCI-TCGA
PCYT1A	P49585	p.Pro348Ser	rs369326424	missense variant	-	NC_000003.12:g.196238750G>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro348Ala	rs369326424	missense variant	-	NC_000003.12:g.196238750G>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala349Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196238746G>A	NCI-TCGA
PCYT1A	P49585	p.Ala349Gly	COSM4116375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.196238746G>C	NCI-TCGA Cosmic
PCYT1A	P49585	p.Asn350Ser	rs200512211	missense variant	-	NC_000003.12:g.196238743T>C	1000Genomes,TOPMed,gnomAD
PCYT1A	P49585	p.Leu351Phe	rs747858848	missense variant	-	NC_000003.12:g.196238741G>A	ExAC,gnomAD
PCYT1A	P49585	p.Arg353Lys	rs1234408601	missense variant	-	NC_000003.12:g.196238734C>T	gnomAD
PCYT1A	P49585	p.His354Arg	rs746462763	missense variant	-	NC_000003.12:g.196238731T>C	ExAC,gnomAD
PCYT1A	P49585	p.His354Gln	rs780201072	missense variant	-	NC_000003.12:g.196238730G>C	ExAC,gnomAD
PCYT1A	P49585	p.His354Tyr	rs774160718	missense variant	-	NC_000003.12:g.196238732G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala356Gly	rs758409027	missense variant	-	NC_000003.12:g.196238725G>C	ExAC,gnomAD
PCYT1A	P49585	p.Ala357Thr	rs376383380	missense variant	-	NC_000003.12:g.196238723C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Asp360Gly	rs754092372	missense variant	-	NC_000003.12:g.196238713T>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser362Asn	rs764163062	missense variant	-	NC_000003.12:g.196238707C>T	ExAC,gnomAD
PCYT1A	P49585	p.Ser362Gly	rs1393418641	missense variant	-	NC_000003.12:g.196238708T>C	gnomAD
PCYT1A	P49585	p.Glu363Asp	rs146135588	missense variant	-	NC_000003.12:g.196238703C>G	ESP,ExAC,gnomAD
PCYT1A	P49585	p.Glu365Lys	rs752768453	missense variant	-	NC_000003.12:g.196238699C>T	ExAC
PCYT1A	P49585	p.Glu366Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.196238696C>T	NCI-TCGA
PCYT1A	P49585	p.Asp2Ala	rs1289492978	missense variant	-	NC_000003.12:g.196270527T>G	TOPMed
PCYT1A	P49585	p.Ala3Glu	rs765878411	missense variant	-	NC_000003.12:g.196270524G>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gln4Arg	rs772648306	missense variant	-	NC_000003.12:g.196270521T>C	ExAC,gnomAD
PCYT1A	P49585	p.Cys5Arg	rs149559427	missense variant	-	NC_000003.12:g.196270519A>G	TOPMed,gnomAD
PCYT1A	P49585	p.Cys5Phe	rs374200334	missense variant	-	NC_000003.12:g.196270518C>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Cys5Tyr	rs374200334	missense variant	-	NC_000003.12:g.196270518C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala11Ser	rs1292608628	missense variant	-	NC_000003.12:g.196270501C>A	gnomAD
PCYT1A	P49585	p.Arg15Thr	rs781198337	missense variant	-	NC_000003.12:g.196270488C>G	ExAC,gnomAD
PCYT1A	P49585	p.Lys16Glu	rs1315588404	missense variant	-	NC_000003.12:g.196270486T>C	gnomAD
PCYT1A	P49585	p.Lys16Arg	rs768525820	missense variant	-	NC_000003.12:g.196270485T>C	ExAC,gnomAD
PCYT1A	P49585	p.Glu17Gly	rs1338129212	missense variant	-	NC_000003.12:g.196270482T>C	gnomAD
PCYT1A	P49585	p.Ala18Val	rs746866627	missense variant	-	NC_000003.12:g.196270479G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro19Leu	rs1041304990	missense variant	-	NC_000003.12:g.196270476G>A	TOPMed
PCYT1A	P49585	p.Gly20Arg	rs142952629	missense variant	-	NC_000003.12:g.196270474C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gly20Arg	rs142952629	missense variant	-	NC_000003.12:g.196270474C>G	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro21Thr	rs150416628	missense variant	-	NC_000003.12:g.196270471G>T	1000Genomes,ESP,ExAC,TOPMed
PCYT1A	P49585	p.Pro21Ter	RCV000521748	frameshift	-	NC_000003.12:g.196270472dup	ClinVar
PCYT1A	P49585	p.Pro21Ser	rs150416628	missense variant	-	NC_000003.12:g.196270471G>A	1000Genomes,ESP,ExAC,TOPMed
PCYT1A	P49585	p.Asn22Ser	rs753801861	missense variant	-	NC_000003.12:g.196270467T>C	ExAC,gnomAD
PCYT1A	P49585	p.Gly23Arg	rs756683597	missense variant	-	NC_000003.12:g.196270465C>T	ExAC,gnomAD
PCYT1A	P49585	p.Gly23Glu	rs1309199348	missense variant	-	NC_000003.12:g.196270464C>T	TOPMed
PCYT1A	P49585	p.Thr25Ala	rs200752223	missense variant	-	NC_000003.12:g.196270459T>C	gnomAD
PCYT1A	P49585	p.Gly29Arg	rs371965700	missense variant	-	NC_000003.12:g.196270447C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Val30Ile	rs749118491	missense variant	-	NC_000003.12:g.196270444C>T	TOPMed
PCYT1A	P49585	p.Val30Phe	rs749118491	missense variant	-	NC_000003.12:g.196270444C>A	TOPMed
PCYT1A	P49585	p.Pro31Ser	rs866650732	missense variant	-	NC_000003.12:g.196270441G>A	-
PCYT1A	P49585	p.Lys33Arg	rs897503443	missense variant	-	NC_000003.12:g.196270434T>C	TOPMed,gnomAD
PCYT1A	P49585	p.Val34Met	rs1036001219	missense variant	-	NC_000003.12:g.196270432C>T	TOPMed
PCYT1A	P49585	p.Arg36Cys	rs181492393	missense variant	-	NC_000003.12:g.196270426G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg36Leu	rs772948955	missense variant	-	NC_000003.12:g.196270425C>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg36His	rs772948955	missense variant	-	NC_000003.12:g.196270425C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Cys37Tyr	rs556753084	missense variant	-	NC_000003.12:g.196270422C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala38Thr	rs761404113	missense variant	-	NC_000003.12:g.196270420C>T	ExAC,gnomAD
PCYT1A	P49585	p.Val39Leu	rs1227619597	missense variant	-	NC_000003.12:g.196270417C>G	gnomAD
PCYT1A	P49585	p.Gly40Asp	rs1274235817	missense variant	-	NC_000003.12:g.196257886C>T	gnomAD
PCYT1A	P49585	p.Arg42Trp	rs142165028	missense variant	-	NC_000003.12:g.196257881G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg42Gln	rs771223117	missense variant	-	NC_000003.12:g.196257880C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro44Arg	rs373774305	missense variant	-	NC_000003.12:g.196257874G>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro44Gln	rs373774305	missense variant	-	NC_000003.12:g.196257874G>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala45Ser	rs770025140	missense variant	-	NC_000003.12:g.196257872C>A	ExAC
PCYT1A	P49585	p.Pro46Ser	rs748171719	missense variant	-	NC_000003.12:g.196257869G>A	ExAC,gnomAD
PCYT1A	P49585	p.Pro46Leu	rs781768969	missense variant	-	NC_000003.12:g.196257868G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Phe47Leu	rs1038475192	missense variant	-	NC_000003.12:g.196257864A>T	TOPMed
PCYT1A	P49585	p.Ser48Cys	rs777509855	missense variant	-	NC_000003.12:g.196257862G>C	ExAC,gnomAD
PCYT1A	P49585	p.Asp49Gly	rs1355304743	missense variant	-	NC_000003.12:g.196257859T>C	gnomAD
PCYT1A	P49585	p.Glu50Lys	rs752031936	missense variant	-	NC_000003.12:g.196257857C>T	ExAC,gnomAD
PCYT1A	P49585	p.Ile51Thr	rs780253017	missense variant	-	NC_000003.12:g.196257853A>G	ExAC,gnomAD
PCYT1A	P49585	p.Asp54Gly	rs1466833415	missense variant	-	NC_000003.12:g.196257844T>C	gnomAD
PCYT1A	P49585	p.Lys57Asn	rs1388282947	missense variant	-	NC_000003.12:g.196257834C>A	gnomAD
PCYT1A	P49585	p.Tyr59Cys	rs561949003	missense variant	-	NC_000003.12:g.196257829T>C	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Tyr59Ter	rs370657415	stop gained	-	NC_000003.12:g.196257828A>T	ESP,ExAC,gnomAD
PCYT1A	P49585	p.Tyr59Ser	rs561949003	missense variant	-	NC_000003.12:g.196257829T>G	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg61Gly	rs760187621	missense variant	-	NC_000003.12:g.196257824T>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Thr63Ser	rs1481436343	missense variant	-	NC_000003.12:g.196257818T>A	gnomAD
PCYT1A	P49585	p.Met64Val	rs752190012	missense variant	-	NC_000003.12:g.196257815T>C	ExAC,gnomAD
PCYT1A	P49585	p.Glu65Gly	rs1482237707	missense variant	-	NC_000003.12:g.196257811T>C	gnomAD
PCYT1A	P49585	p.Glu65Lys	rs1210245046	missense variant	-	NC_000003.12:g.196257812C>T	TOPMed
PCYT1A	P49585	p.Glu66Asp	rs767556887	missense variant	-	NC_000003.12:g.196257807T>A	ExAC,gnomAD
PCYT1A	P49585	p.Ala67Gly	rs759359405	missense variant	-	NC_000003.12:g.196257805G>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala67Asp	rs759359405	missense variant	-	NC_000003.12:g.196257805G>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Thr71Ser	rs770656499	missense variant	-	NC_000003.12:g.196257794T>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro72Thr	rs199961207	missense variant	-	NC_000003.12:g.196257791G>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Cys73Gly	rs773573877	missense variant	-	NC_000003.12:g.196257788A>C	ExAC,gnomAD
PCYT1A	P49585	p.Arg75Gln	rs369594442	missense variant	-	NC_000003.12:g.196248317C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg75Ter	rs1285004802	stop gained	-	NC_000003.12:g.196248318G>A	gnomAD
PCYT1A	P49585	p.Arg78Thr	rs1237888354	missense variant	-	NC_000003.12:g.196248308C>G	TOPMed
PCYT1A	P49585	p.Val79Ile	rs759039449	missense variant	-	NC_000003.12:g.196248306C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Val79Leu	rs759039449	missense variant	-	NC_000003.12:g.196248306C>G	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Asp82Tyr	rs1454902800	missense variant	-	NC_000003.12:g.196248297C>A	gnomAD
PCYT1A	P49585	p.Leu87Phe	rs1157763363	missense variant	-	NC_000003.12:g.196248280T>A	gnomAD
PCYT1A	P49585	p.Leu87Ter	rs1162073603	stop gained	-	NC_000003.12:g.196248281A>T	TOPMed
PCYT1A	P49585	p.His89Tyr	rs1455352648	missense variant	-	NC_000003.12:g.196248276G>A	gnomAD
PCYT1A	P49585	p.Ser90Pro	rs1160679788	missense variant	-	NC_000003.12:g.196248273A>G	gnomAD
PCYT1A	P49585	p.Gly91Asp	rs1003483302	missense variant	-	NC_000003.12:g.196248269C>T	TOPMed,gnomAD
PCYT1A	P49585	p.Ala93Ser	rs938675798	missense variant	-	NC_000003.12:g.196248264C>A	TOPMed,gnomAD
PCYT1A	P49585	p.Ala93Thr	rs938675798	missense variant	-	NC_000003.12:g.196248264C>T	TOPMed,gnomAD
PCYT1A	P49585	p.Arg94Gly	rs773131861	missense variant	-	NC_000003.12:g.196248261G>C	ExAC,gnomAD
PCYT1A	P49585	p.Arg94Ter	rs773131861	stop gained	-	NC_000003.12:g.196248261G>A	ExAC,gnomAD
PCYT1A	P49585	p.Ala95Gly	rs566752063	missense variant	-	NC_000003.12:g.196248257G>C	1000Genomes
PCYT1A	P49585	p.Ala99Val	RCV000622339	missense variant	Inborn genetic diseases	NC_000003.12:g.196248245G>A	ClinVar
PCYT1A	P49585	p.Ala99Val	rs587777189	missense variant	-	NC_000003.12:g.196248245G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala99Val	rs587777189	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196248245G>A	UniProt,dbSNP
PCYT1A	P49585	p.Ala99Val	VAR_071084	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196248245G>A	UniProt
PCYT1A	P49585	p.Ala99Thr	rs587777191	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196248246C>T	UniProt,dbSNP
PCYT1A	P49585	p.Ala99Thr	VAR_071083	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196248246C>T	UniProt
PCYT1A	P49585	p.Ala99Thr	rs587777191	missense variant	-	NC_000003.12:g.196248246C>T	-
PCYT1A	P49585	p.Ala99Thr	RCV000087316	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196248246C>T	ClinVar
PCYT1A	P49585	p.Ala99Val	RCV000087314	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196248245G>A	ClinVar
PCYT1A	P49585	p.Asn101Lys	rs776823706	missense variant	-	NC_000003.12:g.196248238G>C	ExAC,gnomAD
PCYT1A	P49585	p.Thr106Met	rs939839175	missense variant	-	NC_000003.12:g.196248224G>A	TOPMed
PCYT1A	P49585	p.Ile109Val	rs375791987	missense variant	-	NC_000003.12:g.196248216T>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser114Arg	rs1433265727	missense variant	-	NC_000003.12:g.196247513T>G	gnomAD
PCYT1A	P49585	p.Ser114Ile	rs1442385114	missense variant	-	NC_000003.12:g.196247512C>A	TOPMed
PCYT1A	P49585	p.His119Tyr	rs758461951	missense variant	-	NC_000003.12:g.196247498G>A	ExAC,gnomAD
PCYT1A	P49585	p.Phe121Leu	rs1365763649	missense variant	-	NC_000003.12:g.196247490G>C	gnomAD
PCYT1A	P49585	p.Lys122Arg	rs1235010313	missense variant	-	NC_000003.12:g.196247488T>C	TOPMed
PCYT1A	P49585	p.Thr125Met	RCV000412999	missense variant	-	NC_000003.12:g.196247479G>A	ClinVar
PCYT1A	P49585	p.Thr125Met	rs765196598	missense variant	-	NC_000003.12:g.196247479G>A	ExAC,gnomAD
PCYT1A	P49585	p.Met127Ile	rs1271221173	missense variant	-	NC_000003.12:g.196247472C>G	TOPMed
PCYT1A	P49585	p.Glu129Lys	RCV000087320	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196247468C>T	ClinVar
PCYT1A	P49585	p.Glu129Lys	rs587777194	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196247468C>T	UniProt,dbSNP
PCYT1A	P49585	p.Glu129Lys	VAR_071085	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196247468C>T	UniProt
PCYT1A	P49585	p.Glu129Lys	rs587777194	missense variant	-	NC_000003.12:g.196247468C>T	-
PCYT1A	P49585	p.Asn130Ser	rs760919068	missense variant	-	NC_000003.12:g.196247464T>C	ExAC,gnomAD
PCYT1A	P49585	p.Arg132Cys	rs772473697	missense variant	-	NC_000003.12:g.196247459G>A	ExAC,gnomAD
PCYT1A	P49585	p.Arg132His	rs1205319354	missense variant	-	NC_000003.12:g.196247458C>T	TOPMed
PCYT1A	P49585	p.Tyr133Cys	rs767604749	missense variant	-	NC_000003.12:g.196247455T>C	ExAC,gnomAD
PCYT1A	P49585	p.Ala135Val	rs759570486	missense variant	-	NC_000003.12:g.196247449G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg140Cys	rs771371499	missense variant	-	NC_000003.12:g.196247435G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Val142Met	rs1398190721	missense variant	-	NC_000003.12:g.196247429C>T	TOPMed
PCYT1A	P49585	p.Pro150Ala	rs587777190	missense variant	-	NC_000003.12:g.196247405G>C	gnomAD
PCYT1A	P49585	p.Pro150Ala	rs587777190	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196247405G>C	UniProt,dbSNP
PCYT1A	P49585	p.Pro150Ala	VAR_071086	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196247405G>C	UniProt
PCYT1A	P49585	p.Pro150Ala	RCV000087315	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196247405G>C	ClinVar
PCYT1A	P49585	p.Thr152Lys	rs746655391	missense variant	-	NC_000003.12:g.196247398G>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Thr152Met	rs746655391	missense variant	-	NC_000003.12:g.196247398G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Leu153Arg	rs1243780999	missense variant	-	NC_000003.12:g.196247395A>C	gnomAD
PCYT1A	P49585	p.Pro155Leu	rs1293887137	missense variant	-	NC_000003.12:g.196247389G>A	TOPMed
PCYT1A	P49585	p.Pro155Ser	rs771742784	missense variant	-	NC_000003.12:g.196247390G>A	ExAC,gnomAD
PCYT1A	P49585	p.Glu156Lys	rs779048770	missense variant	-	NC_000003.12:g.196247387C>T	ExAC,gnomAD
PCYT1A	P49585	p.Ala159Ser	rs757210925	missense variant	-	NC_000003.12:g.196247378C>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala159Val	rs1271650484	missense variant	-	NC_000003.12:g.196247377G>A	TOPMed
PCYT1A	P49585	p.Glu160Gly	rs755814954	missense variant	-	NC_000003.12:g.196247374T>C	ExAC
PCYT1A	P49585	p.Glu160Lys	rs140290837	missense variant	-	NC_000003.12:g.196247375C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.His161Leu	rs1279839195	missense variant	-	NC_000003.12:g.196247371T>A	TOPMed
PCYT1A	P49585	p.Arg162Gln	rs200813228	missense variant	-	NC_000003.12:g.196247368C>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg162Trp	rs375663930	missense variant	-	NC_000003.12:g.196247369G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Val166Ile	rs888459030	missense variant	-	NC_000003.12:g.196242631C>T	TOPMed
PCYT1A	P49585	p.Ser175Thr	rs778531532	missense variant	-	NC_000003.12:g.196242604A>T	ExAC,gnomAD
PCYT1A	P49585	p.Ala176Val	rs770821991	missense variant	-	NC_000003.12:g.196242600G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gly177Ser	rs1391986278	missense variant	-	NC_000003.12:g.196242598C>T	gnomAD
PCYT1A	P49585	p.Ser178Thr	rs749270094	missense variant	-	NC_000003.12:g.196242594C>G	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Asp179Val	rs777529998	missense variant	-	NC_000003.12:g.196242591T>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Lys186Glu	rs773571578	missense variant	-	NC_000003.12:g.196242571T>C	TOPMed,gnomAD
PCYT1A	P49585	p.Phe191Leu	RCV000087321	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196242085A>G	ClinVar
PCYT1A	P49585	p.Phe191Leu	rs587777195	missense variant	-	NC_000003.12:g.196242085A>G	-
PCYT1A	P49585	p.Phe191Leu	rs587777195	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196242085A>G	UniProt,dbSNP
PCYT1A	P49585	p.Phe191Leu	VAR_071087	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196242085A>G	UniProt
PCYT1A	P49585	p.Gln195Arg	rs187437949	missense variant	-	NC_000003.12:g.196242072T>C	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gln195Ter	rs1408929771	stop gained	-	NC_000003.12:g.196242073G>A	TOPMed,gnomAD
PCYT1A	P49585	p.Gly199Asp	rs1295174913	missense variant	-	NC_000003.12:g.196242060C>T	gnomAD
PCYT1A	P49585	p.Ile200Met	rs1189822613	missense variant	-	NC_000003.12:g.196242056G>C	gnomAD
PCYT1A	P49585	p.Ser201Phe	rs367857863	missense variant	-	NC_000003.12:g.196242054G>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Thr202Ala	rs1365448084	missense variant	-	NC_000003.12:g.196242052T>C	TOPMed
PCYT1A	P49585	p.Ile205Val	rs1162129680	missense variant	-	NC_000003.12:g.196242043T>C	gnomAD
PCYT1A	P49585	p.Arg208Gln	rs867290911	missense variant	-	NC_000003.12:g.196242033C>T	-
PCYT1A	P49585	p.Arg208Ter	rs747258330	stop gained	-	NC_000003.12:g.196242034G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg211Trp	rs758512237	missense variant	-	NC_000003.12:g.196242025G>A	ExAC,gnomAD
PCYT1A	P49585	p.Ala217Val	rs375261933	missense variant	-	NC_000003.12:g.196242006G>A	ESP,ExAC,gnomAD
PCYT1A	P49585	p.Arg219Trp	rs1330097122	missense variant	-	NC_000003.12:g.196242001G>A	gnomAD
PCYT1A	P49585	p.Gln222Ter	rs1227589548	stop gained	-	NC_000003.12:g.196241992G>A	gnomAD
PCYT1A	P49585	p.Arg223Ser	rs540053239	missense variant	-	NC_000003.12:g.196241987C>G	-
PCYT1A	P49585	p.Arg223Ser	rs540053239	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196241987C>G	UniProt,dbSNP
PCYT1A	P49585	p.Arg223Ser	VAR_071088	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD)	NC_000003.12:g.196241987C>G	UniProt
PCYT1A	P49585	p.Arg223Ser	RCV000087319	missense variant	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196241987C>G	ClinVar
PCYT1A	P49585	p.Asn236Ser	rs201929666	missense variant	-	NC_000003.12:g.196241949T>C	1000Genomes,ExAC,gnomAD
PCYT1A	P49585	p.Glu237Lys	rs778480685	missense variant	-	NC_000003.12:g.196239735C>T	ExAC,gnomAD
PCYT1A	P49585	p.Arg245Ser	rs1339129542	missense variant	-	NC_000003.12:g.196239709C>A	TOPMed
PCYT1A	P49585	p.Lys250Arg	rs781390558	missense variant	-	NC_000003.12:g.196239695T>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Lys254Glu	rs200025823	missense variant	-	NC_000003.12:g.196239684T>C	1000Genomes
PCYT1A	P49585	p.Val267Met	rs750077469	missense variant	-	NC_000003.12:g.196239645C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ile272Val	rs1156587499	missense variant	-	NC_000003.12:g.196239630T>C	gnomAD
PCYT1A	P49585	p.Leu274Phe	rs753337043	missense variant	-	NC_000003.12:g.196239624G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Lys277Arg	rs377634842	missense variant	-	NC_000003.12:g.196239614T>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Trp278Arg	rs1439542974	missense variant	-	NC_000003.12:g.196239612A>T	gnomAD
PCYT1A	P49585	p.Arg283Ter	RCV000087317	nonsense	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196239597G>A	ClinVar
PCYT1A	P49585	p.Arg283Ter	rs587777192	stop gained	-	NC_000003.12:g.196239597G>A	TOPMed,gnomAD
PCYT1A	P49585	p.Arg283Gln	rs1282668916	missense variant	-	NC_000003.12:g.196239596C>T	gnomAD
PCYT1A	P49585	p.Glu284Asp	rs775447503	missense variant	-	NC_000003.12:g.196239592T>A	ExAC
PCYT1A	P49585	p.Ile286Val	rs771791109	missense variant	-	NC_000003.12:g.196239588T>C	ExAC,gnomAD
PCYT1A	P49585	p.Ile286Thr	rs759307632	missense variant	-	NC_000003.12:g.196239587A>G	ExAC,gnomAD
PCYT1A	P49585	p.Ile286Met	rs1173104415	missense variant	-	NC_000003.12:g.196239586A>C	TOPMed
PCYT1A	P49585	p.Phe289Ser	rs1303263775	missense variant	-	NC_000003.12:g.196239578A>G	gnomAD
PCYT1A	P49585	p.Glu291Gln	rs1232207713	missense variant	-	NC_000003.12:g.196239573C>G	gnomAD
PCYT1A	P49585	p.Gly294Arg	rs1367500129	missense variant	-	NC_000003.12:g.196239564C>G	gnomAD
PCYT1A	P49585	p.Pro295Leu	rs774447329	missense variant	-	NC_000003.12:g.196239560G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Leu299Pro	rs1376024004	missense variant	-	NC_000003.12:g.196239548A>G	gnomAD
PCYT1A	P49585	p.Gly306Arg	rs539292115	missense variant	-	NC_000003.12:g.196238876C>T	1000Genomes,TOPMed
PCYT1A	P49585	p.Gly308Asp	rs1183286028	missense variant	-	NC_000003.12:g.196238869C>T	gnomAD
PCYT1A	P49585	p.Arg309Trp	rs963356951	missense variant	-	NC_000003.12:g.196238867G>A	-
PCYT1A	P49585	p.Arg309Gln	rs973487210	missense variant	-	NC_000003.12:g.196238866C>T	TOPMed,gnomAD
PCYT1A	P49585	p.Gln312Ter	rs1240246373	stop gained	-	NC_000003.12:g.196238858G>A	gnomAD
PCYT1A	P49585	p.Ala313Thr	rs773520771	missense variant	-	NC_000003.12:g.196238855C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala313Asp	rs571188438	missense variant	-	NC_000003.12:g.196238854G>T	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala313Val	rs571188438	missense variant	-	NC_000003.12:g.196238854G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ile314Leu	rs1367107619	missense variant	-	NC_000003.12:g.196238852T>G	TOPMed
PCYT1A	P49585	p.Ser315Asn	rs1305786964	missense variant	-	NC_000003.12:g.196238848C>T	TOPMed,gnomAD
PCYT1A	P49585	p.Ser315Thr	rs1305786964	missense variant	-	NC_000003.12:g.196238848C>G	TOPMed,gnomAD
PCYT1A	P49585	p.Ser315Gly	rs1217573932	missense variant	-	NC_000003.12:g.196238849T>C	TOPMed
PCYT1A	P49585	p.Pro316Leu	rs747402568	missense variant	-	NC_000003.12:g.196238845G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro316Ser	rs1229173418	missense variant	-	NC_000003.12:g.196238846G>A	gnomAD
PCYT1A	P49585	p.Ser319Asn	rs751722689	missense variant	-	NC_000003.12:g.196238836C>T	gnomAD
PCYT1A	P49585	p.Ser319Ter	RCV000414367	frameshift	-	NC_000003.12:g.196238836_196238837CT[3]	ClinVar
PCYT1A	P49585	p.Pro320Ser	rs748967839	missense variant	-	NC_000003.12:g.196238834G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro320Leu	rs183054905	missense variant	-	NC_000003.12:g.196238833G>A	1000Genomes,ExAC,gnomAD
PCYT1A	P49585	p.Ser322Gly	rs1166285887	missense variant	-	NC_000003.12:g.196238828T>C	gnomAD
PCYT1A	P49585	p.Ser323Ter	RCV000087322	frameshift	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196238824dup	ClinVar
PCYT1A	P49585	p.Thr325Ala	rs372957517	missense variant	-	NC_000003.12:g.196238819T>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg326Pro	rs549056100	missense variant	-	NC_000003.12:g.196238815C>G	1000Genomes,TOPMed,gnomAD
PCYT1A	P49585	p.Arg326His	rs549056100	missense variant	-	NC_000003.12:g.196238815C>T	1000Genomes,TOPMed,gnomAD
PCYT1A	P49585	p.Arg326Gly	rs766301243	missense variant	-	NC_000003.12:g.196238816G>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg326Cys	rs766301243	missense variant	-	NC_000003.12:g.196238816G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Glu327Lys	rs144403921	missense variant	-	NC_000003.12:g.196238813C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Glu327Gln	rs144403921	missense variant	-	NC_000003.12:g.196238813C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg328His	rs199831548	missense variant	-	NC_000003.12:g.196238809C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg328Cys	rs61737437	missense variant	-	NC_000003.12:g.196238810G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg328Gly	rs61737437	missense variant	-	NC_000003.12:g.196238810G>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser329Pro	rs1479942890	missense variant	-	NC_000003.12:g.196238807A>G	gnomAD
PCYT1A	P49585	p.Pro330Leu	rs1222327977	missense variant	-	NC_000003.12:g.196238803G>A	gnomAD
PCYT1A	P49585	p.Pro330Ser	rs551412906	missense variant	-	NC_000003.12:g.196238804G>A	1000Genomes,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser331Ter	RCV000087318	frameshift	Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD)	NC_000003.12:g.196238806del	ClinVar
PCYT1A	P49585	p.Ser331Ala	rs374831064	missense variant	-	NC_000003.12:g.196238801A>C	ESP,ExAC
PCYT1A	P49585	p.Pro332Ser	rs200703149	missense variant	-	NC_000003.12:g.196238798G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Arg335Ter	rs551199725	stop gained	-	NC_000003.12:g.196238789G>A	gnomAD
PCYT1A	P49585	p.Arg335Gln	rs754397679	missense variant	-	NC_000003.12:g.196238788C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Trp336Ter	rs751579909	stop gained	-	NC_000003.12:g.196238784C>T	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro337Leu	rs148500335	missense variant	-	NC_000003.12:g.196238782G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro337His	rs148500335	missense variant	-	NC_000003.12:g.196238782G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro337Ser	rs142799242	missense variant	-	NC_000003.12:g.196238783G>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gly340Cys	rs146337013	missense variant	-	NC_000003.12:g.196238774C>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Gly340Ser	rs146337013	missense variant	-	NC_000003.12:g.196238774C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro344Leu	rs775986884	missense variant	-	NC_000003.12:g.196238761G>A	ExAC,gnomAD
PCYT1A	P49585	p.Cys346Tyr	rs1468052548	missense variant	-	NC_000003.12:g.196238755C>T	gnomAD
PCYT1A	P49585	p.Cys346Arg	rs772551986	missense variant	-	NC_000003.12:g.196238756A>G	ExAC,gnomAD
PCYT1A	P49585	p.Ser347Pro	rs759958810	missense variant	-	NC_000003.12:g.196238753A>G	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser347Ala	rs759958810	missense variant	-	NC_000003.12:g.196238753A>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro348Ser	rs369326424	missense variant	-	NC_000003.12:g.196238750G>A	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Pro348Ala	rs369326424	missense variant	-	NC_000003.12:g.196238750G>C	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Asn350Ser	rs200512211	missense variant	-	NC_000003.12:g.196238743T>C	1000Genomes,TOPMed,gnomAD
PCYT1A	P49585	p.Leu351Phe	rs747858848	missense variant	-	NC_000003.12:g.196238741G>A	ExAC,gnomAD
PCYT1A	P49585	p.Arg353Lys	rs1234408601	missense variant	-	NC_000003.12:g.196238734C>T	gnomAD
PCYT1A	P49585	p.His354Arg	rs746462763	missense variant	-	NC_000003.12:g.196238731T>C	ExAC,gnomAD
PCYT1A	P49585	p.His354Gln	rs780201072	missense variant	-	NC_000003.12:g.196238730G>C	ExAC,gnomAD
PCYT1A	P49585	p.His354Tyr	rs774160718	missense variant	-	NC_000003.12:g.196238732G>A	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ala356Gly	rs758409027	missense variant	-	NC_000003.12:g.196238725G>C	ExAC,gnomAD
PCYT1A	P49585	p.Ala357Thr	rs376383380	missense variant	-	NC_000003.12:g.196238723C>T	ESP,ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Asp360Gly	rs754092372	missense variant	-	NC_000003.12:g.196238713T>C	ExAC,TOPMed,gnomAD
PCYT1A	P49585	p.Ser362Gly	rs1393418641	missense variant	-	NC_000003.12:g.196238708T>C	gnomAD
PCYT1A	P49585	p.Ser362Asn	rs764163062	missense variant	-	NC_000003.12:g.196238707C>T	ExAC,gnomAD
PCYT1A	P49585	p.Glu363Asp	rs146135588	missense variant	-	NC_000003.12:g.196238703C>G	ESP,ExAC,gnomAD
PCYT1A	P49585	p.Glu365Lys	rs752768453	missense variant	-	NC_000003.12:g.196238699C>T	ExAC
GSK3B	P49841	p.Thr8Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.120093413T>A	NCI-TCGA
GSK3B	P49841	p.Cys14Ter	rs1436410958	stop gained	-	NC_000003.12:g.120093393G>T	gnomAD
GSK3B	P49841	p.Lys15Glu	rs373508918	missense variant	-	NC_000003.12:g.120093392T>C	ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Gln19Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.120093379T>C	NCI-TCGA
GSK3B	P49841	p.Ala22Pro	rs750102236	missense variant	-	NC_000003.12:g.120093371C>G	ExAC,gnomAD
GSK3B	P49841	p.Ala22Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.120093371C>A	NCI-TCGA
GSK3B	P49841	p.Phe23Cys	rs774835112	missense variant	-	NC_000003.12:g.120093367A>C	ExAC,gnomAD
GSK3B	P49841	p.Phe23Leu	rs769312285	missense variant	-	NC_000003.12:g.120093366A>T	ExAC,gnomAD
GSK3B	P49841	p.Gly24Val	rs1368413587	missense variant	-	NC_000003.12:g.120093364C>A	gnomAD
GSK3B	P49841	p.Ser25Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.120093361C>T	NCI-TCGA
GSK3B	P49841	p.Met26Val	rs1309654926	missense variant	-	NC_000003.12:g.120093359T>C	gnomAD
GSK3B	P49841	p.Met26Leu	rs1309654926	missense variant	-	NC_000003.12:g.120093359T>A	gnomAD
GSK3B	P49841	p.Met26Ile	rs763333358	missense variant	-	NC_000003.12:g.120093357C>T	ExAC,gnomAD
GSK3B	P49841	p.Ser29Arg	rs1162665263	missense variant	-	NC_000003.12:g.120093348G>C	gnomAD
GSK3B	P49841	p.Ser29Asn	rs769708545	missense variant	-	NC_000003.12:g.120093349C>T	ExAC,gnomAD
GSK3B	P49841	p.Ser29Thr	rs769708545	missense variant	-	NC_000003.12:g.120093349C>G	ExAC,gnomAD
GSK3B	P49841	p.Gly34Ser	rs1269622391	missense variant	-	NC_000003.12:g.120002228C>T	gnomAD
GSK3B	P49841	p.Gly34Ser	rs1269622391	missense variant	-	NC_000003.12:g.120002228C>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Thr38Ile	rs759572039	missense variant	-	NC_000003.12:g.120002215G>A	ExAC,gnomAD
GSK3B	P49841	p.Thr39Ala	rs776666984	missense variant	-	NC_000003.12:g.120002213T>C	ExAC,gnomAD
GSK3B	P49841	p.Thr43Ala	rs771162975	missense variant	-	NC_000003.12:g.120002201T>C	ExAC,gnomAD
GSK3B	P49841	p.Thr43Ile	rs1422948653	missense variant	-	NC_000003.12:g.120002200G>A	TOPMed
GSK3B	P49841	p.Gly47Val	rs200600198	missense variant	-	NC_000003.12:g.120002188C>A	gnomAD
GSK3B	P49841	p.Pro48Thr	rs768381879	missense variant	-	NC_000003.12:g.120002186G>T	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Asp49Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.120002183C>T	NCI-TCGA
GSK3B	P49841	p.Gln52Lys	rs999399448	missense variant	-	NC_000003.12:g.120002174G>T	TOPMed,gnomAD
GSK3B	P49841	p.Glu53Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.120002171C>A	NCI-TCGA
GSK3B	P49841	p.Glu53Lys	COSM1036838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.120002171C>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Thr59Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.120002152G>A	NCI-TCGA
GSK3B	P49841	p.Lys60Glu	rs1043846922	missense variant	-	NC_000003.12:g.120002150T>C	gnomAD
GSK3B	P49841	p.Lys60Asn	rs1451473946	missense variant	-	NC_000003.12:g.120002148T>G	TOPMed
GSK3B	P49841	p.Val61Leu	rs779897228	missense variant	-	NC_000003.12:g.120002147C>G	ExAC,gnomAD
GSK3B	P49841	p.Val61Ala	rs1319842683	missense variant	-	NC_000003.12:g.120002146A>G	TOPMed
GSK3B	P49841	p.Ile62Val	rs1178691948	missense variant	-	NC_000003.12:g.120002144T>C	gnomAD
GSK3B	P49841	p.Gly68Val	COSM4112592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.120002125C>A	NCI-TCGA Cosmic
GSK3B	P49841	p.Val70Ile	rs184532476	missense variant	-	NC_000003.12:g.120002120C>T	1000Genomes,ExAC,gnomAD
GSK3B	P49841	p.Lys74Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.120002107T>G	NCI-TCGA
GSK3B	P49841	p.Ser78Leu	rs202134968	missense variant	-	NC_000003.12:g.120002095G>A	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Glu80Ter	COSM1036836	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.120002090C>A	NCI-TCGA Cosmic
GSK3B	P49841	p.Ala83Thr	COSM294429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.120002081C>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Val87Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.120002069C>T	NCI-TCGA
GSK3B	P49841	p.Arg92Ile	COSM4112590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.120002053C>A	NCI-TCGA Cosmic
GSK3B	P49841	p.Arg96Ter	rs1163587458	stop gained	-	NC_000003.12:g.119947348G>A	gnomAD
GSK3B	P49841	p.Arg96Gln	COSM1036834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119947347C>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Glu97Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119947345C>T	NCI-TCGA
GSK3B	P49841	p.Arg102Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119947329C>A	NCI-TCGA
GSK3B	P49841	p.Arg102Lys	COSM3585811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119947329C>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Asp105Gly	rs1189138605	missense variant	-	NC_000003.12:g.119947320T>C	gnomAD
GSK3B	P49841	p.Cys107Tyr	rs773253962	missense variant	-	NC_000003.12:g.119947314C>T	ExAC,gnomAD
GSK3B	P49841	p.Asn108His	rs767657425	missense variant	-	NC_000003.12:g.119947312T>G	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg111Gln	rs762056483	missense variant	-	NC_000003.12:g.119947302C>T	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg111Gln	rs762056483	missense variant	-	NC_000003.12:g.119947302C>T	NCI-TCGA,NCI-TCGA Cosmic
GSK3B	P49841	p.Arg111Leu	rs762056483	missense variant	-	NC_000003.12:g.119947302C>A	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg111Ter	COSM1036832	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.119947303G>A	NCI-TCGA Cosmic
GSK3B	P49841	p.Arg113His	rs769576748	missense variant	-	NC_000003.12:g.119947296C>T	ExAC,gnomAD
GSK3B	P49841	p.Arg113Cys	rs775155403	missense variant	-	NC_000003.12:g.119947297G>A	ExAC,gnomAD
GSK3B	P49841	p.Phe115Leu	COSM1036828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119947289G>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Ser119Gly	rs776780339	missense variant	-	NC_000003.12:g.119947279T>C	ExAC,gnomAD
GSK3B	P49841	p.Glu121Asp	COSM116745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119947271C>G	NCI-TCGA Cosmic
GSK3B	P49841	p.Lys123Glu	rs1246291930	missense variant	-	NC_000003.12:g.119923483T>C	gnomAD
GSK3B	P49841	p.Asp124Glu	rs541918115	missense variant	-	NC_000003.12:g.119923478A>C	1000Genomes,ExAC,gnomAD
GSK3B	P49841	p.Val126Ile	rs1278284853	missense variant	-	NC_000003.12:g.119923474C>T	gnomAD
GSK3B	P49841	p.Tyr127Cys	rs1347660914	missense variant	-	NC_000003.12:g.119923470T>C	gnomAD
GSK3B	P49841	p.Tyr127Cys	rs1347660914	missense variant	-	NC_000003.12:g.119923470T>C	NCI-TCGA Cosmic
GSK3B	P49841	p.Leu132Met	rs1275927228	missense variant	-	NC_000003.12:g.119923456G>T	TOPMed,gnomAD
GSK3B	P49841	p.Asp133Asn	rs1228373745	missense variant	-	NC_000003.12:g.119923453C>T	gnomAD
GSK3B	P49841	p.Tyr134Cys	rs747598536	missense variant	-	NC_000003.12:g.119923449T>C	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Val135Ile	rs972600014	missense variant	-	NC_000003.12:g.119923447C>T	TOPMed,gnomAD
GSK3B	P49841	p.Pro136Gln	rs1345405296	missense variant	-	NC_000003.12:g.119923443G>T	gnomAD
GSK3B	P49841	p.Pro136Leu	rs1345405296	missense variant	-	NC_000003.12:g.119923443G>A	gnomAD
GSK3B	P49841	p.Tyr140Cys	rs374053953	missense variant	-	NC_000003.12:g.119923431T>C	ESP,ExAC,gnomAD
GSK3B	P49841	p.Ala143Ser	rs200380044	missense variant	-	NC_000003.12:g.119923423C>A	ExAC,gnomAD
GSK3B	P49841	p.Tyr146Cys	rs1388335197	missense variant	-	NC_000003.12:g.119923413T>C	gnomAD
GSK3B	P49841	p.Ser147Asn	rs576401632	missense variant	-	NC_000003.12:g.119923410C>T	1000Genomes,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg148Ter	rs1450227743	stop gained	-	NC_000003.12:g.119923408G>A	gnomAD
GSK3B	P49841	p.Arg148Gln	rs757429682	missense variant	-	NC_000003.12:g.119923407C>T	ExAC,gnomAD
GSK3B	P49841	p.Arg148Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119923408G>C	NCI-TCGA
GSK3B	P49841	p.Ala149Gly	rs751566414	missense variant	-	NC_000003.12:g.119923404G>C	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Thr152Ala	rs764422326	missense variant	-	NC_000003.12:g.119923396T>C	ExAC,gnomAD
GSK3B	P49841	p.Thr152Met	rs72546695	missense variant	-	NC_000003.12:g.119923395G>A	ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Leu153Pro	rs766207294	missense variant	-	NC_000003.12:g.119923392A>G	ExAC,gnomAD
GSK3B	P49841	p.Ile156Met	COSM1418068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119923382A>C	NCI-TCGA Cosmic
GSK3B	P49841	p.Tyr161Cys	rs758696011	missense variant	-	NC_000003.12:g.119916170T>C	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Met162Val	rs199990599	missense variant	-	NC_000003.12:g.119916168T>C	TOPMed
GSK3B	P49841	p.Met162Ile	rs1462455112	missense variant	-	NC_000003.12:g.119916166C>T	gnomAD
GSK3B	P49841	p.Tyr163Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119916165A>C	NCI-TCGA
GSK3B	P49841	p.Phe166Leu	rs148468264	missense variant	-	NC_000003.12:g.119916154G>T	ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg167Ter	rs201787969	stop gained	-	NC_000003.12:g.119916153G>A	ExAC,gnomAD
GSK3B	P49841	p.Arg167Gln	rs756003147	missense variant	-	NC_000003.12:g.119916152C>T	ExAC,gnomAD
GSK3B	P49841	p.Arg167Ter	rs201787969	stop gained	-	NC_000003.12:g.119916153G>A	NCI-TCGA,NCI-TCGA Cosmic
GSK3B	P49841	p.Arg167Gln	rs756003147	missense variant	-	NC_000003.12:g.119916152C>T	NCI-TCGA,NCI-TCGA Cosmic
GSK3B	P49841	p.Ala170Thr	rs200780530	missense variant	-	NC_000003.12:g.119916144C>T	TOPMed
GSK3B	P49841	p.Tyr171Phe	rs1391379309	missense variant	-	NC_000003.12:g.119916140T>A	TOPMed
GSK3B	P49841	p.Ile172Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119916137A>G	NCI-TCGA
GSK3B	P49841	p.His179Asn	COSM1036822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119916117G>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Arg180Trp	COSM1418066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119916114G>A	NCI-TCGA Cosmic
GSK3B	P49841	p.Arg180Gln	COSM244836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119916113C>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Pro184Leu	rs1334056340	missense variant	-	NC_000003.12:g.119916101G>A	gnomAD
GSK3B	P49841	p.Pro184Leu	rs1334056340	missense variant	-	NC_000003.12:g.119916101G>A	NCI-TCGA Cosmic
GSK3B	P49841	p.Val195Ile	rs200768845	missense variant	-	NC_000003.12:g.119916069C>T	1000Genomes,ExAC,gnomAD
GSK3B	P49841	p.Lys197AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.119916061T>-	NCI-TCGA
GSK3B	P49841	p.Cys199Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.119916055A>T	NCI-TCGA
GSK3B	P49841	p.Gln206Arg	rs1275534046	missense variant	-	NC_000003.12:g.119912802T>C	TOPMed
GSK3B	P49841	p.Val208Leu	rs1220893466	missense variant	-	NC_000003.12:g.119912797C>G	gnomAD
GSK3B	P49841	p.Arg209Gln	rs1371764974	missense variant	-	NC_000003.12:g.119912793C>T	gnomAD
GSK3B	P49841	p.Glu211Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.119912788C>A	NCI-TCGA
GSK3B	P49841	p.Glu211AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.119912786T>-	NCI-TCGA
GSK3B	P49841	p.Pro212Arg	rs1433092365	missense variant	-	NC_000003.12:g.119912784G>C	gnomAD
GSK3B	P49841	p.Pro212Ser	rs759068324	missense variant	-	NC_000003.12:g.119912785G>A	ExAC,gnomAD
GSK3B	P49841	p.Asn213Ser	rs1260622686	missense variant	-	NC_000003.12:g.119912781T>C	gnomAD
GSK3B	P49841	p.Ser215Pro	rs1308939025	missense variant	-	NC_000003.12:g.119912776A>G	TOPMed
GSK3B	P49841	p.Ser215Leu	COSM4112584	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119912775G>A	NCI-TCGA Cosmic
GSK3B	P49841	p.Tyr216Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119912772T>C	NCI-TCGA
GSK3B	P49841	p.Arg220Trp	rs1289744832	missense variant	-	NC_000003.12:g.119912761G>A	gnomAD
GSK3B	P49841	p.Pro225Leu	rs747385360	missense variant	-	NC_000003.12:g.119912745G>A	ExAC,gnomAD
GSK3B	P49841	p.Ile228Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119912736A>T	NCI-TCGA
GSK3B	P49841	p.Phe229Leu	COSM4933052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119912732A>C	NCI-TCGA Cosmic
GSK3B	P49841	p.Thr235Asn	rs927477936	missense variant	-	NC_000003.12:g.119912715G>T	TOPMed
GSK3B	P49841	p.Ser237Gly	rs1263369470	missense variant	-	NC_000003.12:g.119912710T>C	gnomAD
GSK3B	P49841	p.Ile238Thr	COSM269287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119912706A>G	NCI-TCGA Cosmic
GSK3B	P49841	p.Val240Leu	rs200882593	missense variant	-	NC_000003.12:g.119905850C>A	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Val240Ile	rs200882593	missense variant	-	NC_000003.12:g.119905850C>T	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Gly244Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119905837C>T	NCI-TCGA
GSK3B	P49841	p.Leu247Phe	rs749385392	missense variant	-	NC_000003.12:g.119905827C>G	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Glu249Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119905823C>T	NCI-TCGA
GSK3B	P49841	p.Ile256Val	rs770039569	missense variant	-	NC_000003.12:g.119905802T>C	ExAC,gnomAD
GSK3B	P49841	p.Gly262Asp	rs746833524	missense variant	-	NC_000003.12:g.119905783C>T	ExAC,gnomAD
GSK3B	P49841	p.Gly262Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119905784C>T	NCI-TCGA
GSK3B	P49841	p.Glu268Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.119905766C>A	NCI-TCGA
GSK3B	P49841	p.Val272Ile	rs762995497	missense variant	-	NC_000003.12:g.119876508C>T	ExAC
GSK3B	P49841	p.Val272Ala	rs775594725	missense variant	-	NC_000003.12:g.119876507A>G	ExAC,gnomAD
GSK3B	P49841	p.Arg278Lys	rs770038325	missense variant	-	NC_000003.12:g.119876489C>T	ExAC,gnomAD
GSK3B	P49841	p.Arg278Gly	rs200373768	missense variant	-	NC_000003.12:g.119876490T>C	1000Genomes
GSK3B	P49841	p.Glu279Lys	rs568223760	missense variant	-	NC_000003.12:g.119876487C>T	1000Genomes,ExAC,gnomAD
GSK3B	P49841	p.Arg282Thr	rs773000672	missense variant	-	NC_000003.12:g.119876477C>G	ExAC,gnomAD
GSK3B	P49841	p.Glu283Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.119876475C>A	NCI-TCGA
GSK3B	P49841	p.Pro286Ser	rs771909190	missense variant	-	NC_000003.12:g.119876466G>A	ExAC,gnomAD
GSK3B	P49841	p.Pro286Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119876465G>C	NCI-TCGA
GSK3B	P49841	p.Glu290Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119876453T>G	NCI-TCGA
GSK3B	P49841	p.Gln295His	rs549729441	missense variant	-	NC_000003.12:g.119876437T>G	1000Genomes,ExAC,gnomAD
GSK3B	P49841	p.Gln295Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119876439G>C	NCI-TCGA
GSK3B	P49841	p.Pro300His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119876423G>T	NCI-TCGA
GSK3B	P49841	p.Trp301Arg	COSM281576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119876421A>G	NCI-TCGA Cosmic
GSK3B	P49841	p.Trp301Ter	COSM1036816	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.119876419C>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Thr302Ile	rs1441114375	missense variant	-	NC_000003.12:g.119876417G>A	gnomAD
GSK3B	P49841	p.Val304Phe	rs140668532	missense variant	-	NC_000003.12:g.119863605C>A	ESP,TOPMed,gnomAD
GSK3B	P49841	p.Arg306Ter	rs768552900	stop gained	-	NC_000003.12:g.119863599G>A	ExAC,gnomAD
GSK3B	P49841	p.Arg306Gln	rs762651036	missense variant	-	NC_000003.12:g.119863598C>T	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg308Gln	rs775606264	missense variant	-	NC_000003.12:g.119863592C>T	ExAC,gnomAD
GSK3B	P49841	p.Arg308Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.119863593G>A	NCI-TCGA
GSK3B	P49841	p.Thr309Ala	rs1336623593	missense variant	-	NC_000003.12:g.119863590T>C	gnomAD
GSK3B	P49841	p.Pro310Ser	rs769830542	missense variant	-	NC_000003.12:g.119863587G>A	ExAC,gnomAD
GSK3B	P49841	p.Pro311Leu	rs1189501362	missense variant	-	NC_000003.12:g.119863583G>A	TOPMed
GSK3B	P49841	p.Ala313Ser	rs1299887852	missense variant	-	NC_000003.12:g.119863578C>A	gnomAD
GSK3B	P49841	p.Ala313Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119863578C>G	NCI-TCGA
GSK3B	P49841	p.Ala315Val	rs780806364	missense variant	-	NC_000003.12:g.119863571G>A	ExAC,gnomAD
GSK3B	P49841	p.Ser318Arg	rs746618679	missense variant	-	NC_000003.12:g.119863563T>G	ExAC,gnomAD
GSK3B	P49841	p.Arg319His	rs72548709	missense variant	-	NC_000003.12:g.119863559C>T	ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg319Cys	rs199730714	missense variant	-	NC_000003.12:g.119863560G>A	ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Leu321Met	COSM288436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119863554G>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Thr326Ala	rs777620218	missense variant	-	NC_000003.12:g.119863539T>C	ExAC,gnomAD
GSK3B	P49841	p.Ala327Val	rs370810641	missense variant	-	NC_000003.12:g.119863535G>A	ESP,ExAC,gnomAD
GSK3B	P49841	p.Arg328Ter	rs753950587	stop gained	-	NC_000003.12:g.119863533G>A	ExAC,gnomAD
GSK3B	P49841	p.Arg328Leu	COSM6163065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119863532C>A	NCI-TCGA Cosmic
GSK3B	P49841	p.Pro331Gln	rs1388013918	missense variant	-	NC_000003.12:g.119863523G>T	TOPMed
GSK3B	P49841	p.Pro331Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119863523G>A	NCI-TCGA
GSK3B	P49841	p.Leu332Val	rs766379974	missense variant	-	NC_000003.12:g.119863521G>C	ExAC,gnomAD
GSK3B	P49841	p.Ala336Val	rs1320887967	missense variant	-	NC_000003.12:g.119863508G>A	TOPMed
GSK3B	P49841	p.His337Arg	rs750723548	missense variant	-	NC_000003.12:g.119863505T>C	ExAC,gnomAD
GSK3B	P49841	p.Phe340LeuPheSerTerUnkUnkUnk	COSM6044508	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.119863495A>-	NCI-TCGA Cosmic
GSK3B	P49841	p.Asp341Ter	NCI-TCGA novel	frameshift	-	NC_000003.12:g.119863494_119863495insA	NCI-TCGA
GSK3B	P49841	p.Glu342Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.119863491C>A	NCI-TCGA
GSK3B	P49841	p.Pro346Ser	rs1314952657	missense variant	-	NC_000003.12:g.119863479G>A	gnomAD
GSK3B	P49841	p.Val348Ile	rs767602302	missense variant	-	NC_000003.12:g.119863473C>T	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Val348Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119863472A>T	NCI-TCGA
GSK3B	P49841	p.Lys349Arg	rs367873946	missense variant	-	NC_000003.12:g.119863469T>C	ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Lys349Thr	rs367873946	missense variant	-	NC_000003.12:g.119863469T>G	ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Pro351Arg	rs1247019169	missense variant	-	NC_000003.12:g.119863463G>C	TOPMed
GSK3B	P49841	p.Arg354Gln	rs759476802	missense variant	-	NC_000003.12:g.119863454C>T	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Thr356Ile	rs776291124	missense variant	-	NC_000003.12:g.119863448G>A	ExAC,gnomAD
GSK3B	P49841	p.Thr356Ala	rs201790494	missense variant	-	NC_000003.12:g.119863449T>C	1000Genomes
GSK3B	P49841	p.Pro357Ala	rs374033612	missense variant	-	NC_000003.12:g.119863446G>C	ESP,TOPMed
GSK3B	P49841	p.Asn361Ser	rs1347336963	missense variant	-	NC_000003.12:g.119863433T>C	TOPMed,gnomAD
GSK3B	P49841	p.Asn361Asp	rs1452045897	missense variant	-	NC_000003.12:g.119863434T>C	gnomAD
GSK3B	P49841	p.Thr363Ile	rs1260902406	missense variant	-	NC_000003.12:g.119863427G>A	TOPMed
GSK3B	P49841	p.Gln365His	rs1199213155	missense variant	-	NC_000003.12:g.119863420T>G	gnomAD
GSK3B	P49841	p.Gln365Lys	rs1424307475	missense variant	-	NC_000003.12:g.119863422G>T	TOPMed
GSK3B	P49841	p.Asn370His	rs1255291178	missense variant	-	NC_000003.12:g.119843342T>G	gnomAD
GSK3B	P49841	p.Pro372Leu	rs1212959347	missense variant	-	NC_000003.12:g.119843335G>A	gnomAD
GSK3B	P49841	p.Leu373Val	rs376972717	missense variant	-	NC_000003.12:g.119843333G>C	ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Leu373Met	rs376972717	missense variant	-	NC_000003.12:g.119843333G>T	ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Thr375Asn	rs760284146	missense variant	-	NC_000003.12:g.119843326G>T	ExAC,gnomAD
GSK3B	P49841	p.Ile376Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.119843324T>C	NCI-TCGA
GSK3B	P49841	p.Ile378Thr	rs1044741713	missense variant	-	NC_000003.12:g.119843317A>G	TOPMed
GSK3B	P49841	p.His381Arg	rs201010589	missense variant	-	NC_000003.12:g.119843308T>C	gnomAD
GSK3B	P49841	p.His381Tyr	rs772550262	missense variant	-	NC_000003.12:g.119843309G>A	ExAC,gnomAD
GSK3B	P49841	p.Arg383Gln	rs149631706	missense variant	-	NC_000003.12:g.119843302C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Ser389Pro	COSM3426928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119843285A>G	NCI-TCGA Cosmic
GSK3B	P49841	p.Thr390Ala	rs200933546	missense variant	-	NC_000003.12:g.119843282T>C	1000Genomes,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Pro391Ser	rs369649606	missense variant	-	NC_000003.12:g.119843279G>A	ESP,TOPMed,gnomAD
GSK3B	P49841	p.Pro391Thr	rs369649606	missense variant	-	NC_000003.12:g.119843279G>T	ESP,TOPMed,gnomAD
GSK3B	P49841	p.Asn393Lys	rs780658325	missense variant	-	NC_000003.12:g.119843271A>C	ExAC,gnomAD
GSK3B	P49841	p.Ala394Gly	rs549169441	missense variant	-	NC_000003.12:g.119843269G>C	1000Genomes,ExAC,gnomAD
GSK3B	P49841	p.Ala394Asp	rs549169441	missense variant	-	NC_000003.12:g.119843269G>T	1000Genomes,ExAC,gnomAD
GSK3B	P49841	p.Ala394Val	rs549169441	missense variant	-	NC_000003.12:g.119843269G>A	1000Genomes,ExAC,gnomAD
GSK3B	P49841	p.Thr395Ala	rs201103601	missense variant	-	NC_000003.12:g.119843267T>C	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Ala396Thr	rs781064367	missense variant	-	NC_000003.12:g.119843264C>T	ExAC,gnomAD
GSK3B	P49841	p.Ala397Val	rs139402886	missense variant	-	NC_000003.12:g.119843260G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Ala397Thr	COSM4112582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.119843261C>T	NCI-TCGA Cosmic
GSK3B	P49841	p.Thr402Ala	rs767410640	missense variant	-	NC_000003.12:g.119826847T>C	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg405Cys	rs202055878	missense variant	-	NC_000003.12:g.119826838G>A	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg405Gly	rs202055878	missense variant	-	NC_000003.12:g.119826838G>C	ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Arg405His	rs141519181	missense variant	-	NC_000003.12:g.119826837C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSK3B	P49841	p.Thr408Ile	rs1384008314	missense variant	-	NC_000003.12:g.119826828G>A	gnomAD
GSK3B	P49841	p.Thr408Ala	rs1405720494	missense variant	-	NC_000003.12:g.119826829T>C	gnomAD
GSK3B	P49841	p.Ala411Thr	rs775934133	missense variant	-	NC_000003.12:g.119826820C>T	ExAC,gnomAD
GSK3B	P49841	p.Ala411Ser	rs775934133	missense variant	-	NC_000003.12:g.119826820C>A	ExAC,gnomAD
GSK3B	P49841	p.Ala414Val	rs1193074453	missense variant	-	NC_000003.12:g.119826810G>A	gnomAD
GSK3B	P49841	p.Ala416Ser	rs201770515	missense variant	-	NC_000003.12:g.119826805C>A	1000Genomes,ExAC,gnomAD
GSK3B	P49841	p.Ser417Phe	rs1194528845	missense variant	-	NC_000003.12:g.119826801G>A	gnomAD
GSK3B	P49841	p.Ser417Cys	rs1194528845	missense variant	-	NC_000003.12:g.119826801G>C	gnomAD
GSK3B	P49841	p.Asn418Thr	rs771546683	missense variant	-	NC_000003.12:g.119826798T>G	ExAC,gnomAD
GSK3B	P49841	p.Asn418Ser	rs771546683	missense variant	-	NC_000003.12:g.119826798T>C	ExAC,gnomAD
GSK3B	P49841	p.Ser419Ala	rs1282597500	missense variant	-	NC_000003.12:g.119826796A>C	TOPMed,gnomAD
GSK3B	P49841	p.Thr420Ala	rs1222836539	missense variant	-	NC_000003.12:g.119826793T>C	gnomAD
CDKN1C	P49918	p.Ser2Ala	rs748680303	missense variant	-	NC_000011.10:g.2885486A>C	ExAC,gnomAD
CDKN1C	P49918	p.Asp3Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.2885481G>T	NCI-TCGA
CDKN1C	P49918	p.Asp3Asn	rs1452796504	missense variant	-	NC_000011.10:g.2885483C>T	TOPMed
CDKN1C	P49918	p.Ala4Val	RCV000628528	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885479G>A	ClinVar
CDKN1C	P49918	p.Ala4Val	rs201368350	missense variant	-	NC_000011.10:g.2885479G>A	1000Genomes,ExAC,gnomAD
CDKN1C	P49918	p.Ala4Gly	rs201368350	missense variant	-	NC_000011.10:g.2885479G>C	1000Genomes,ExAC,gnomAD
CDKN1C	P49918	p.Ser5Phe	rs1367640051	missense variant	-	NC_000011.10:g.2885476G>A	gnomAD
CDKN1C	P49918	p.Leu6Pro	RCV000456489	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885473A>G	ClinVar
CDKN1C	P49918	p.Leu6Pro	rs201715947	missense variant	-	NC_000011.10:g.2885473A>G	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg7Cys	RCV000469288	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885471G>A	ClinVar
CDKN1C	P49918	p.Arg7Cys	rs374634184	missense variant	-	NC_000011.10:g.2885471G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Ser8AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.2885453_2885469CCATCGTGGATGTGCTG>-	NCI-TCGA
CDKN1C	P49918	p.Thr9Ile	rs1300493378	missense variant	-	NC_000011.10:g.2885464G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ser10Tyr	RCV000698775	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885461G>T	ClinVar
CDKN1C	P49918	p.Ser10Tyr	rs1420666038	missense variant	-	NC_000011.10:g.2885461G>T	gnomAD
CDKN1C	P49918	p.Ser10Phe	rs1420666038	missense variant	-	NC_000011.10:g.2885461G>A	gnomAD
CDKN1C	P49918	p.Thr11Ala	RCV000703792	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885459T>C	ClinVar
CDKN1C	P49918	p.Thr11Met	rs1360488872	missense variant	-	NC_000011.10:g.2885458G>A	gnomAD
CDKN1C	P49918	p.Met12Leu	rs483352966	missense variant	-	NC_000011.10:g.2885456T>G	-
CDKN1C	P49918	p.Met12Leu	rs483352966	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885456T>G	UniProt,dbSNP
CDKN1C	P49918	p.Met12Leu	VAR_075200	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885456T>G	UniProt
CDKN1C	P49918	p.Arg14Ter	RCV000722767	frameshift	-	NC_000011.10:g.2885449_2885450insTCTT	ClinVar
CDKN1C	P49918	p.Leu15Pro	rs756961090	missense variant	-	NC_000011.10:g.2885446A>G	ExAC
CDKN1C	P49918	p.Val16Leu	rs1425889083	missense variant	-	NC_000011.10:g.2885444C>G	gnomAD
CDKN1C	P49918	p.Ala17Val	RCV000704283	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885440G>A	ClinVar
CDKN1C	P49918	p.Ala17Val	rs1477196859	missense variant	-	NC_000011.10:g.2885440G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Arg18Gly	rs1439697461	missense variant	-	NC_000011.10:g.2885438G>C	TOPMed
CDKN1C	P49918	p.Arg18His	rs954416273	missense variant	-	NC_000011.10:g.2885437C>T	TOPMed
CDKN1C	P49918	p.Thr20Ala	rs1194168261	missense variant	-	NC_000011.10:g.2885432T>C	gnomAD
CDKN1C	P49918	p.Pro22Ala	rs1487817041	missense variant	-	NC_000011.10:g.2885426G>C	gnomAD
CDKN1C	P49918	p.Val25Leu	rs758244300	missense variant	-	NC_000011.10:g.2885417C>A	ExAC,gnomAD
CDKN1C	P49918	p.Val25Gly	rs752482298	missense variant	-	NC_000011.10:g.2885416A>C	ExAC,gnomAD
CDKN1C	P49918	p.Val25Met	rs758244300	missense variant	-	NC_000011.10:g.2885417C>T	ExAC,gnomAD
CDKN1C	P49918	p.Arg26His	rs1277388037	missense variant	-	NC_000011.10:g.2885413C>T	gnomAD
CDKN1C	P49918	p.Arg26Gly	rs765255367	missense variant	-	NC_000011.10:g.2885414G>C	ExAC
CDKN1C	P49918	p.Thr27Ile	rs1282995815	missense variant	-	NC_000011.10:g.2885410G>A	TOPMed
CDKN1C	P49918	p.Ser28Gly	rs1316822895	missense variant	-	NC_000011.10:g.2885408T>C	TOPMed
CDKN1C	P49918	p.Ala29Val	rs1319614382	missense variant	-	NC_000011.10:g.2885404G>A	gnomAD
CDKN1C	P49918	p.Arg31Cys	rs1467420956	missense variant	-	NC_000011.10:g.2885399G>A	TOPMed
CDKN1C	P49918	p.Arg31Ser	rs1467420956	missense variant	-	NC_000011.10:g.2885399G>T	TOPMed
CDKN1C	P49918	p.Arg31Ser	RCV000628566	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885399G>T	ClinVar
CDKN1C	P49918	p.Arg31Cys	RCV000702468	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885399G>A	ClinVar
CDKN1C	P49918	p.Ser32Arg	rs753973370	missense variant	-	NC_000011.10:g.2885396T>G	ExAC,gnomAD
CDKN1C	P49918	p.Pro36Arg	RCV000722416	missense variant	-	NC_000011.10:g.2885383G>C	ClinVar
CDKN1C	P49918	p.Pro36Arg	RCV000691699	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885383G>C	ClinVar
CDKN1C	P49918	p.His39Gln	rs760980314	missense variant	-	NC_000011.10:g.2885373G>T	ExAC,gnomAD
CDKN1C	P49918	p.His39Tyr	rs1360245860	missense variant	-	NC_000011.10:g.2885375G>A	gnomAD
CDKN1C	P49918	p.Glu41Val	rs1461879669	missense variant	-	NC_000011.10:g.2885368T>A	TOPMed
CDKN1C	P49918	p.Glu41Ter	rs483352967	stop gained	-	NC_000011.10:g.2885369C>A	TOPMed
CDKN1C	P49918	p.Ser43Arg	rs1426087860	missense variant	-	NC_000011.10:g.2885361G>C	gnomAD
CDKN1C	P49918	p.Arg44Leu	RCV000527236	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885359C>A	ClinVar
CDKN1C	P49918	p.Arg44Leu	rs1477382841	missense variant	-	NC_000011.10:g.2885359C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Arg44Cys	rs956525226	missense variant	-	NC_000011.10:g.2885360G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Arg44His	RCV000691794	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885359C>T	ClinVar
CDKN1C	P49918	p.Gln47Ter	RCV000009287	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885351G>A	ClinVar
CDKN1C	P49918	p.Gln47Ter	rs137852766	stop gained	Beckwith-wiedemann syndrome (bws)	NC_000011.10:g.2885351G>A	-
CDKN1C	P49918	p.Ala48Val	RCV000474168	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885347G>A	ClinVar
CDKN1C	P49918	p.Ala48Val	rs774548414	missense variant	-	NC_000011.10:g.2885347G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Ala48Asp	rs774548414	missense variant	-	NC_000011.10:g.2885347G>T	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg49Ser	rs749713233	missense variant	-	NC_000011.10:g.2885345G>T	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg49Cys	rs749713233	missense variant	-	NC_000011.10:g.2885345G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg49Leu	rs1258326298	missense variant	-	NC_000011.10:g.2885344C>A	gnomAD
CDKN1C	P49918	p.Ala51Asp	rs1379349678	missense variant	-	NC_000011.10:g.2885338G>T	TOPMed
CDKN1C	P49918	p.Leu53Pro	rs483352968	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885332A>G	UniProt,dbSNP
CDKN1C	P49918	p.Leu53Pro	VAR_075201	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885332A>G	UniProt
CDKN1C	P49918	p.Leu53Pro	rs483352968	missense variant	-	NC_000011.10:g.2885332A>G	-
CDKN1C	P49918	p.Ala55Ser	rs1013973901	missense variant	-	NC_000011.10:g.2885327C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Gln58Glu	rs1450572665	missense variant	-	NC_000011.10:g.2885318G>C	gnomAD
CDKN1C	P49918	p.Asn59Lys	rs1439751169	missense variant	-	NC_000011.10:g.2885313G>T	TOPMed
CDKN1C	P49918	p.Asn59Tyr	rs1402483625	missense variant	-	NC_000011.10:g.2885315T>A	gnomAD
CDKN1C	P49918	p.Arg60Leu	rs758011168	missense variant	-	NC_000011.10:g.2885311C>A	ExAC,gnomAD
CDKN1C	P49918	p.Trp61Ser	RCV000628554	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885308C>G	ClinVar
CDKN1C	P49918	p.Trp61Ser	rs1554938211	missense variant	-	NC_000011.10:g.2885308C>G	-
CDKN1C	P49918	p.Tyr63Ter	rs754972138	stop gained	-	NC_000011.10:g.2885301G>C	ExAC,gnomAD
CDKN1C	P49918	p.Tyr63Asp	rs778520280	missense variant	-	NC_000011.10:g.2885303A>C	ExAC,gnomAD
CDKN1C	P49918	p.Asp64Ter	RCV000628545	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885300_2885301insCCAGCTGGAA	ClinVar
CDKN1C	P49918	p.Gln66Ter	RCV000539829	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885295del	ClinVar
CDKN1C	P49918	p.Gln66Arg	rs930266866	missense variant	-	NC_000011.10:g.2885293T>C	TOPMed
CDKN1C	P49918	p.Gln66His	rs1424141761	missense variant	-	NC_000011.10:g.2885292C>A	gnomAD
CDKN1C	P49918	p.Pro70Gln	rs483352970	missense variant	-	NC_000011.10:g.2885281G>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro70Ser	rs753651871	missense variant	-	NC_000011.10:g.2885282G>A	ExAC,gnomAD
CDKN1C	P49918	p.Pro70Leu	rs483352970	missense variant	-	NC_000011.10:g.2885281G>A	ExAC,gnomAD
CDKN1C	P49918	p.Pro70Leu	rs483352970	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885281G>A	UniProt,dbSNP
CDKN1C	P49918	p.Pro70Leu	VAR_075203	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885281G>A	UniProt
CDKN1C	P49918	p.Pro70Thr	rs753651871	missense variant	-	NC_000011.10:g.2885282G>T	ExAC,gnomAD
CDKN1C	P49918	p.Arg72Gln	rs1238182415	missense variant	-	NC_000011.10:g.2885275C>T	gnomAD
CDKN1C	P49918	p.Gly73Asp	RCV000465999	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885272C>T	ClinVar
CDKN1C	P49918	p.Gly73Ser	rs1197451349	missense variant	-	NC_000011.10:g.2885273C>T	gnomAD
CDKN1C	P49918	p.Gly73Asp	rs1060500179	missense variant	-	NC_000011.10:g.2885272C>T	gnomAD
CDKN1C	P49918	p.Gly75Arg	rs1224283171	missense variant	-	NC_000011.10:g.2885267C>T	gnomAD
CDKN1C	P49918	p.Gly75Arg	RCV000547901	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885267C>T	ClinVar
CDKN1C	P49918	p.Arg76Cys	RCV000628559	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885264G>A	ClinVar
CDKN1C	P49918	p.Arg76Leu	rs1312652368	missense variant	-	NC_000011.10:g.2885263C>A	gnomAD
CDKN1C	P49918	p.Arg76Cys	rs750526402	missense variant	-	NC_000011.10:g.2885264G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg76Leu	RCV000688516	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885263C>A	ClinVar
CDKN1C	P49918	p.Gln78His	rs1244338457	missense variant	-	NC_000011.10:g.2885256C>A	gnomAD
CDKN1C	P49918	p.Trp79Ter	rs1379762772	stop gained	-	NC_000011.10:g.2885254C>T	gnomAD
CDKN1C	P49918	p.Thr80Ile	rs1475576590	missense variant	-	NC_000011.10:g.2885251G>A	TOPMed
CDKN1C	P49918	p.Glu81Gln	rs1038466183	missense variant	-	NC_000011.10:g.2885249C>G	TOPMed
CDKN1C	P49918	p.Val82Met	rs1446106642	missense variant	-	NC_000011.10:g.2885246C>T	gnomAD
CDKN1C	P49918	p.Ser84Arg	rs1295465465	missense variant	-	NC_000011.10:g.2885238G>T	gnomAD
CDKN1C	P49918	p.Ser86Trp	rs897964106	missense variant	-	NC_000011.10:g.2885233G>C	gnomAD
CDKN1C	P49918	p.Ser86Leu	rs897964106	missense variant	-	NC_000011.10:g.2885233G>A	gnomAD
CDKN1C	P49918	p.Val87Met	rs1161598406	missense variant	-	NC_000011.10:g.2885231C>T	gnomAD
CDKN1C	P49918	p.Ala89Thr	RCV000528594	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885225C>T	ClinVar
CDKN1C	P49918	p.Ala89Thr	rs1177512372	missense variant	-	NC_000011.10:g.2885225C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Phe90Ser	rs1269049521	missense variant	-	NC_000011.10:g.2885221A>G	gnomAD
CDKN1C	P49918	p.Tyr91His	RCV000449560	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885219A>G	ClinVar
CDKN1C	P49918	p.Tyr91His	rs1060499712	missense variant	-	NC_000011.10:g.2885219A>G	-
CDKN1C	P49918	p.Val95Met	rs762106424	missense variant	-	NC_000011.10:g.2885207C>T	ExAC,gnomAD
CDKN1C	P49918	p.Gln96Arg	rs1220704341	missense variant	-	NC_000011.10:g.2885203T>C	gnomAD
CDKN1C	P49918	p.Gly98Glu	rs1398439636	missense variant	-	NC_000011.10:g.2885197C>T	TOPMed
CDKN1C	P49918	p.Arg99Cys	rs1356534188	missense variant	-	NC_000011.10:g.2885195G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Arg99His	rs1287328131	missense variant	-	NC_000011.10:g.2885194C>T	gnomAD
CDKN1C	P49918	p.Arg101Cys	rs1303693319	missense variant	-	NC_000011.10:g.2885189G>A	gnomAD
CDKN1C	P49918	p.Leu102Gln	rs774805080	missense variant	-	NC_000011.10:g.2885185A>T	ExAC,gnomAD
CDKN1C	P49918	p.Leu103Val	RCV000693618	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885183G>C	ClinVar
CDKN1C	P49918	p.Leu103Val	rs1416112498	missense variant	-	NC_000011.10:g.2885183G>C	TOPMed
CDKN1C	P49918	p.Leu104Ter	RCV000009289	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885179_2885180delinsC	ClinVar
CDKN1C	P49918	p.Ala105Ser	rs1354077920	missense variant	-	NC_000011.10:g.2885177C>A	TOPMed
CDKN1C	P49918	p.Arg107Gln	rs763525000	missense variant	-	NC_000011.10:g.2885170C>T	ExAC,gnomAD
CDKN1C	P49918	p.Arg107Trp	rs1301124627	missense variant	-	NC_000011.10:g.2885171G>A	gnomAD
CDKN1C	P49918	p.Ala112Val	rs1176153874	missense variant	-	NC_000011.10:g.2885155G>A	gnomAD
CDKN1C	P49918	p.Ala112Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.2885156C>T	NCI-TCGA
CDKN1C	P49918	p.Ala112Ter	RCV000172989	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885157dup	ClinVar
CDKN1C	P49918	p.Ala112Pro	rs1378798027	missense variant	-	NC_000011.10:g.2885156C>G	gnomAD
CDKN1C	P49918	p.Ala114Val	RCV000628567	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885149G>A	ClinVar
CDKN1C	P49918	p.Ala114Val	rs1486019596	missense variant	-	NC_000011.10:g.2885149G>A	TOPMed
CDKN1C	P49918	p.Ser116Asn	rs1197769841	missense variant	-	NC_000011.10:g.2885143C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Ser116Ile	rs1197769841	missense variant	-	NC_000011.10:g.2885143C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Pro117Arg	RCV000553814	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885140G>C	ClinVar
CDKN1C	P49918	p.Pro117Ser	RCV000541194	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885141G>A	ClinVar
CDKN1C	P49918	p.Pro117Arg	rs945890937	missense variant	-	NC_000011.10:g.2885140G>C	TOPMed,gnomAD
CDKN1C	P49918	p.Pro117Ser	rs570636789	missense variant	-	NC_000011.10:g.2885141G>A	1000Genomes,ExAC,gnomAD
CDKN1C	P49918	p.Pro117Gln	rs945890937	missense variant	-	NC_000011.10:g.2885140G>T	TOPMed,gnomAD
CDKN1C	P49918	p.Pro118Ala	RCV000628546	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885138G>C	ClinVar
CDKN1C	P49918	p.Pro118Leu	RCV000464222	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885137G>A	ClinVar
CDKN1C	P49918	p.Pro118Arg	rs771731330	missense variant	-	NC_000011.10:g.2885137G>C	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Pro118Leu	rs771731330	missense variant	-	NC_000011.10:g.2885137G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Pro118Ala	rs772684721	missense variant	-	NC_000011.10:g.2885138G>C	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Leu119Phe	RCV000529970	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885135G>A	ClinVar
CDKN1C	P49918	p.Leu119Phe	rs1323156745	missense variant	-	NC_000011.10:g.2885135G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Glu120Lys	rs1220263188	missense variant	-	NC_000011.10:g.2885132C>T	gnomAD
CDKN1C	P49918	p.Glu120Gln	RCV000692989	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885132C>G	ClinVar
CDKN1C	P49918	p.Ala122Thr	rs551863674	missense variant	-	NC_000011.10:g.2885126C>T	1000Genomes,TOPMed,gnomAD
CDKN1C	P49918	p.Ala123Ser	rs1395949690	missense variant	-	NC_000011.10:g.2885123C>A	TOPMed
CDKN1C	P49918	p.Ala123Thr	rs1395949690	missense variant	-	NC_000011.10:g.2885123C>T	TOPMed
CDKN1C	P49918	p.Ser125Tyr	RCV000706635	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885116G>T	ClinVar
CDKN1C	P49918	p.Ser125Pro	rs1319558011	missense variant	-	NC_000011.10:g.2885117A>G	TOPMed
CDKN1C	P49918	p.Ser125Pro	RCV000555220	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885117A>G	ClinVar
CDKN1C	P49918	p.Leu126Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.2885113A>G	NCI-TCGA
CDKN1C	P49918	p.Leu126Phe	rs1302975990	missense variant	-	NC_000011.10:g.2885114G>A	gnomAD
CDKN1C	P49918	p.Leu129Ter	RCV000628538	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885101_2885108del	ClinVar
CDKN1C	P49918	p.Glu130Lys	RCV000693640	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885102C>T	ClinVar
CDKN1C	P49918	p.Glu130Asp	rs778772076	missense variant	-	NC_000011.10:g.2885100C>A	ExAC,gnomAD
CDKN1C	P49918	p.Glu131Gly	rs1225742557	missense variant	-	NC_000011.10:g.2885098T>C	TOPMed
CDKN1C	P49918	p.Ala132Val	RCV000529122	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885095G>A	ClinVar
CDKN1C	P49918	p.Ala132Val	rs1364155293	missense variant	-	NC_000011.10:g.2885095G>A	gnomAD
CDKN1C	P49918	p.Ala132Thr	rs1479013685	missense variant	-	NC_000011.10:g.2885096C>T	gnomAD
CDKN1C	P49918	p.Pro133Ser	rs1192914687	missense variant	-	NC_000011.10:g.2885093G>A	gnomAD
CDKN1C	P49918	p.Glu134Gln	rs1013695050	missense variant	-	NC_000011.10:g.2885090C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Glu134Gln	RCV000471932	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885090C>G	ClinVar
CDKN1C	P49918	p.Glu134Ter	RCV000172990	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885091dup	ClinVar
CDKN1C	P49918	p.Pro137Leu	RCV000697489	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885080G>A	ClinVar
CDKN1C	P49918	p.Pro137Leu	rs1445830484	missense variant	-	NC_000011.10:g.2885080G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Val139Ile	RCV000546289	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885075C>T	ClinVar
CDKN1C	P49918	p.Val139Ile	rs1183623363	missense variant	-	NC_000011.10:g.2885075C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Ala143Val	rs896475967	missense variant	-	NC_000011.10:g.2885062G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Pro144Ter	RCV000594212	frameshift	-	NC_000011.10:g.2885062del	ClinVar
CDKN1C	P49918	p.Ala145Pro	rs1241880588	missense variant	-	NC_000011.10:g.2885057C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Pro148Gln	RCV000558836	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885047G>T	ClinVar
CDKN1C	P49918	p.Pro148Gln	rs754671425	missense variant	-	NC_000011.10:g.2885047G>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro149Leu	RCV000467968	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885044G>A	ClinVar
CDKN1C	P49918	p.Pro149Leu	rs1060500175	missense variant	-	NC_000011.10:g.2885044G>A	-
CDKN1C	P49918	p.Pro150Ter	RCV000172982	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885045del	ClinVar
CDKN1C	P49918	p.Val151Ile	RCV000543063	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885039C>T	ClinVar
CDKN1C	P49918	p.Val151Ile	rs753342439	missense variant	-	NC_000011.10:g.2885039C>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro158Leu	rs1320293569	missense variant	-	NC_000011.10:g.2885017G>A	TOPMed
CDKN1C	P49918	p.Pro158Ala	rs483352981	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885018G>C	UniProt,dbSNP
CDKN1C	P49918	p.Pro158Ala	VAR_075204	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885018G>C	UniProt
CDKN1C	P49918	p.Pro158Ala	rs483352981	missense variant	-	NC_000011.10:g.2885018G>C	-
CDKN1C	P49918	p.Ala159Thr	RCV000689463	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885015C>T	ClinVar
CDKN1C	P49918	p.Ala159Ser	rs1237188823	missense variant	-	NC_000011.10:g.2885015C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ala159Pro	rs1237188823	missense variant	-	NC_000011.10:g.2885015C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Pro164Leu	RCV000536339	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884999G>A	ClinVar
CDKN1C	P49918	p.Pro164Ala	rs1323691763	missense variant	-	NC_000011.10:g.2885000G>C	gnomAD
CDKN1C	P49918	p.Pro164Leu	rs1315960524	missense variant	-	NC_000011.10:g.2884999G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Val165Ile	RCV000458924	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884997C>T	ClinVar
CDKN1C	P49918	p.Val165Ala	rs1191295512	missense variant	-	NC_000011.10:g.2884996A>G	TOPMed
CDKN1C	P49918	p.Val165Ile	rs1060500172	missense variant	-	NC_000011.10:g.2884997C>T	-
CDKN1C	P49918	p.Ala166Pro	rs1419349248	missense variant	-	NC_000011.10:g.2884994C>G	TOPMed
CDKN1C	P49918	p.Ala166Val	rs1183329789	missense variant	-	NC_000011.10:g.2884993G>A	TOPMed
CDKN1C	P49918	p.Ala167Pro	rs1038604691	missense variant	-	NC_000011.10:g.2884991C>G	TOPMed
CDKN1C	P49918	p.Ala171_Ala174del	VAR_001404	inframe_deletion	-	-	UniProt
CDKN1C	P49918	p.Pro172Ala	rs1342240264	missense variant	-	NC_000011.10:g.2884976G>C	gnomAD
CDKN1C	P49918	p.Val175Ala	rs1309218520	missense variant	-	NC_000011.10:g.2884966A>G	TOPMed
CDKN1C	P49918	p.Ala176Leu	rs1554937984	missense variant	-	NC_000011.10:g.2884963_2884964delinsAG	-
CDKN1C	P49918	p.Ala176Leu	RCV000628593	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884963_2884964delinsAG	ClinVar
CDKN1C	P49918	p.Ala176Val	rs1383784539	missense variant	-	NC_000011.10:g.2884963G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ala176Pro	rs1312921087	missense variant	-	NC_000011.10:g.2884964C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Val177Ile	RCV000464198	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884961C>T	ClinVar
CDKN1C	P49918	p.Val177Phe	rs1060500174	missense variant	-	NC_000011.10:g.2884961C>A	gnomAD
CDKN1C	P49918	p.Val177Ala	rs1288020047	missense variant	-	NC_000011.10:g.2884960A>G	TOPMed,gnomAD
CDKN1C	P49918	p.Val177Ile	rs1060500174	missense variant	-	NC_000011.10:g.2884961C>T	gnomAD
CDKN1C	P49918	p.Leu178Pro	RCV000456909	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884957A>G	ClinVar
CDKN1C	P49918	p.Leu178Pro	rs1060500177	missense variant	-	NC_000011.10:g.2884957A>G	TOPMed,gnomAD
CDKN1C	P49918	p.Pro180Leu	RCV000628561	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884951G>A	ClinVar
CDKN1C	P49918	p.Pro180Leu	rs113374868	missense variant	-	NC_000011.10:g.2884951G>A	-
CDKN1C	P49918	p.Ala181Val	RCV000705163	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884948G>A	ClinVar
CDKN1C	P49918	p.Ala181Val	rs1332953428	missense variant	-	NC_000011.10:g.2884948G>A	gnomAD
CDKN1C	P49918	p.Ala181_Pro184del	VAR_001405	inframe_deletion	-	-	UniProt
CDKN1C	P49918	p.Pro182Leu	rs1465874610	missense variant	-	NC_000011.10:g.2884945G>A	gnomAD
CDKN1C	P49918	p.Ala183Val	rs1163195873	missense variant	-	NC_000011.10:g.2884942G>A	TOPMed
CDKN1C	P49918	p.Pro184Ser	rs1399078248	missense variant	-	NC_000011.10:g.2884940G>A	gnomAD
CDKN1C	P49918	p.Pro184Leu	rs1050598447	missense variant	-	NC_000011.10:g.2884939G>A	TOPMed
CDKN1C	P49918	p.Pro186Leu	RCV000686502	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884933G>A	ClinVar
CDKN1C	P49918	p.Pro186Leu	rs1167747239	missense variant	-	NC_000011.10:g.2884933G>A	gnomAD
CDKN1C	P49918	p.Ala187Val	rs1443539133	missense variant	-	NC_000011.10:g.2884930G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ala187Ser	rs1163798897	missense variant	-	NC_000011.10:g.2884931C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Pro188Leu	rs1370733962	missense variant	-	NC_000011.10:g.2884927G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Pro188Ala	rs1474613343	missense variant	-	NC_000011.10:g.2884928G>C	gnomAD
CDKN1C	P49918	p.Ala189Val	rs1188784737	missense variant	-	NC_000011.10:g.2884924G>A	gnomAD
CDKN1C	P49918	p.Pro190Leu	rs1444091895	missense variant	-	NC_000011.10:g.2884921G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ala191Ser	RCV000457773	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884919C>A	ClinVar
CDKN1C	P49918	p.Ala191Ser	rs1060500180	missense variant	-	NC_000011.10:g.2884919C>A	gnomAD
CDKN1C	P49918	p.Pro192Arg	RCV000693644	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884915G>C	ClinVar
CDKN1C	P49918	p.Pro192Arg	rs1377428359	missense variant	-	NC_000011.10:g.2884915G>C	TOPMed
CDKN1C	P49918	p.Pro194Leu	rs1458423964	missense variant	-	NC_000011.10:g.2884909G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Val195Ala	rs1261515352	missense variant	-	NC_000011.10:g.2884906A>G	TOPMed,gnomAD
CDKN1C	P49918	p.Val195Ala	RCV000735112	missense variant	-	NC_000011.10:g.2884906A>G	ClinVar
CDKN1C	P49918	p.Val195Ala	RCV000539515	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884906A>G	ClinVar
CDKN1C	P49918	p.Ala196Pro	rs1281835164	missense variant	-	NC_000011.10:g.2884904C>G	TOPMed
CDKN1C	P49918	p.Ala196Pro	RCV000628534	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884904C>G	ClinVar
CDKN1C	P49918	p.Pro198Leu	rs2583439	missense variant	-	NC_000011.10:g.2884897G>A	TOPMed
CDKN1C	P49918	p.Pro198Arg	rs2583439	missense variant	-	NC_000011.10:g.2884897G>C	TOPMed
CDKN1C	P49918	p.Pro200_Ala203del	VAR_001406	inframe_deletion	-	-	UniProt
CDKN1C	P49918	p.Ala201Val	rs1489659757	missense variant	-	NC_000011.10:g.2884888G>A	gnomAD
CDKN1C	P49918	p.Ala203Ter	RCV000681670	frameshift	-	NC_000011.10:g.2884883_2884884del	ClinVar
CDKN1C	P49918	p.Pro204Ala	RCV000704183	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884880G>C	ClinVar
CDKN1C	P49918	p.Pro204Ser	rs1345683292	missense variant	-	NC_000011.10:g.2884880G>A	TOPMed
CDKN1C	P49918	p.Pro204Ala	rs1345683292	missense variant	-	NC_000011.10:g.2884880G>C	TOPMed
CDKN1C	P49918	p.Ala205Gly	rs1305191870	missense variant	-	NC_000011.10:g.2884876G>C	TOPMed
CDKN1C	P49918	p.Pro206Arg	rs1182342	missense variant	-	NC_000011.10:g.2884873G>C	TOPMed,gnomAD
CDKN1C	P49918	p.Pro206_Ala209del	VAR_001407	inframe_deletion	-	-	UniProt
CDKN1C	P49918	p.Ala207Thr	RCV000628537	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884871C>T	ClinVar
CDKN1C	P49918	p.Ala207Thr	rs1554937870	missense variant	-	NC_000011.10:g.2884871C>T	-
CDKN1C	P49918	p.Ala209Thr	RCV000628550	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884865C>T	ClinVar
CDKN1C	P49918	p.Ala209Gly	RCV000686644	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884864G>C	ClinVar
CDKN1C	P49918	p.Ala209Thr	rs750581456	missense variant	-	NC_000011.10:g.2884865C>T	ExAC,gnomAD
CDKN1C	P49918	p.Ala211Thr	RCV000462042	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884859C>T	ClinVar
CDKN1C	P49918	p.Ala211Ter	RCV000172985	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884859delinsTT	ClinVar
CDKN1C	P49918	p.Ala211Ter	RCV000172984	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884868_2884869insAGCGGGGCCGG	ClinVar
CDKN1C	P49918	p.Ala211Thr	rs1060500178	missense variant	-	NC_000011.10:g.2884859C>T	TOPMed
CDKN1C	P49918	p.Pro212Ter	RCV000172986	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884858del	ClinVar
CDKN1C	P49918	p.Ala213Ter	RCV000172983	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884858_2884882dup	ClinVar
CDKN1C	P49918	p.Pro214Leu	RCV000700299	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884849G>A	ClinVar
CDKN1C	P49918	p.Pro214Ter	RCV000172987	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884846_2884849delinsCCC	ClinVar
CDKN1C	P49918	p.Pro214Thr	rs562237921	missense variant	-	NC_000011.10:g.2884850G>T	1000Genomes,TOPMed
CDKN1C	P49918	p.Pro214Ser	rs562237921	missense variant	-	NC_000011.10:g.2884850G>A	1000Genomes,TOPMed
CDKN1C	P49918	p.Ala215Asp	RCV000475530	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884846G>T	ClinVar
CDKN1C	P49918	p.Ala215Asp	rs1060500176	missense variant	-	NC_000011.10:g.2884846G>T	TOPMed
CDKN1C	P49918	p.Ala215Pro	rs1450071551	missense variant	-	NC_000011.10:g.2884847C>G	TOPMed
CDKN1C	P49918	p.Ala215Thr	rs1450071551	missense variant	-	NC_000011.10:g.2884847C>T	TOPMed
CDKN1C	P49918	p.Pro216Ter	RCV000685583	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884846del	ClinVar
CDKN1C	P49918	p.Asp217Glu	rs751669088	missense variant	-	NC_000011.10:g.2884839G>C	ExAC,gnomAD
CDKN1C	P49918	p.Asp217Val	rs3741342	missense variant	-	NC_000011.10:g.2884840T>A	TOPMed
CDKN1C	P49918	p.Ala218Val	RCV000687878	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884837G>A	ClinVar
CDKN1C	P49918	p.Pro220Leu	rs763289302	missense variant	-	NC_000011.10:g.2884831G>A	ExAC,gnomAD
CDKN1C	P49918	p.Pro220Thr	rs1329147434	missense variant	-	NC_000011.10:g.2884832G>T	TOPMed
CDKN1C	P49918	p.Gln221Ter	rs1229546713	stop gained	-	NC_000011.10:g.2884829G>A	gnomAD
CDKN1C	P49918	p.Glu222Gln	rs775889163	missense variant	-	NC_000011.10:g.2884826C>G	ExAC,TOPMed
CDKN1C	P49918	p.Ala224Thr	RCV000462429	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884820C>T	ClinVar
CDKN1C	P49918	p.Ala224Thr	rs528634940	missense variant	-	NC_000011.10:g.2884820C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Glu225Ter	RCV000693066	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884817C>A	ClinVar
CDKN1C	P49918	p.Gln226Glu	RCV000474244	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884814G>C	ClinVar
CDKN1C	P49918	p.Gln226Ter	rs483352987	stop gained	-	NC_000011.10:g.2884814G>A	ExAC,gnomAD
CDKN1C	P49918	p.Gln226Pro	rs1424651848	missense variant	-	NC_000011.10:g.2884813T>G	gnomAD
CDKN1C	P49918	p.Gln226Glu	rs483352987	missense variant	-	NC_000011.10:g.2884814G>C	ExAC,gnomAD
CDKN1C	P49918	p.Gly227Cys	rs771502215	missense variant	-	NC_000011.10:g.2884811C>A	ExAC,gnomAD
CDKN1C	P49918	p.Gly227Val	rs1180635221	missense variant	-	NC_000011.10:g.2884810C>A	gnomAD
CDKN1C	P49918	p.Gln230Ter	RCV000593457	frameshift	-	NC_000011.10:g.2884801del	ClinVar
CDKN1C	P49918	p.Gly231Arg	RCV000693814	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884799C>T	ClinVar
CDKN1C	P49918	p.Gly231Glu	rs1179846540	missense variant	-	NC_000011.10:g.2884798C>T	gnomAD
CDKN1C	P49918	p.Gln232Ter	RCV000192927	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884796G>A	ClinVar
CDKN1C	P49918	p.Gln232His	rs1295497799	missense variant	-	NC_000011.10:g.2884794C>G	TOPMed
CDKN1C	P49918	p.Gln232Ter	rs797045445	stop gained	-	NC_000011.10:g.2884796G>A	-
CDKN1C	P49918	p.Arg233Gln	RCV000543609	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884791_2884792delinsCT	ClinVar
CDKN1C	P49918	p.Arg233His	rs564726941	missense variant	-	NC_000011.10:g.2884792C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg233Cys	rs773932111	missense variant	-	NC_000011.10:g.2884793G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg233Pro	rs564726941	missense variant	-	NC_000011.10:g.2884792C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg233Gly	rs773932111	missense variant	-	NC_000011.10:g.2884793G>C	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg233Gln	rs1554937778	missense variant	-	NC_000011.10:g.2884791_2884792delinsCT	-
CDKN1C	P49918	p.Gly234Val	rs1203065343	missense variant	-	NC_000011.10:g.2884789C>A	TOPMed
CDKN1C	P49918	p.Glu236Ter	RCV000695961	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884784C>A	ClinVar
CDKN1C	P49918	p.Pro237Ser	RCV000560692	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884781G>A	ClinVar
CDKN1C	P49918	p.Pro237Ser	rs1240280374	missense variant	-	NC_000011.10:g.2884781G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Leu238Phe	rs878853640	missense variant	-	NC_000011.10:g.2884778G>A	TOPMed
CDKN1C	P49918	p.Leu238Phe	RCV000227356	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884778G>A	ClinVar
CDKN1C	P49918	p.Ala239Ser	rs781428134	missense variant	-	NC_000011.10:g.2884775C>A	ExAC,gnomAD
CDKN1C	P49918	p.Gly245Arg	RCV000459988	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884757C>T	ClinVar
CDKN1C	P49918	p.Gly245Arg	rs1060500181	missense variant	-	NC_000011.10:g.2884757C>T	-
CDKN1C	P49918	p.Ser247Ter	RCV000009290	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884750G>T	ClinVar
CDKN1C	P49918	p.Ser247Ter	rs104894200	stop gained	Beckwith-wiedemann syndrome (bws)	NC_000011.10:g.2884750G>T	-
CDKN1C	P49918	p.Ser247Leu	RCV000476304	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884750G>A	ClinVar
CDKN1C	P49918	p.Ser247Leu	rs104894200	missense variant	Beckwith-wiedemann syndrome (bws)	NC_000011.10:g.2884750G>A	-
CDKN1C	P49918	p.Gly248Arg	RCV000698846	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884748C>T	ClinVar
CDKN1C	P49918	p.Arg249Cys	RCV000232898	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884745G>A	ClinVar
CDKN1C	P49918	p.Arg249Cys	rs878853641	missense variant	-	NC_000011.10:g.2884745G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Pro250His	rs753022994	missense variant	-	NC_000011.10:g.2884741G>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro250Leu	rs753022994	missense variant	-	NC_000011.10:g.2884741G>A	ExAC,gnomAD
CDKN1C	P49918	p.Ala251Ter	RCV000549523	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884727_2884738delinsGCAC	ClinVar
CDKN1C	P49918	p.Ala251Val	rs765542916	missense variant	-	NC_000011.10:g.2884738G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Gly253Ser	rs1462025809	missense variant	-	NC_000011.10:g.2884733C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Gly253Arg	rs1462025809	missense variant	-	NC_000011.10:g.2884733C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Thr254Ile	rs1247486281	missense variant	-	NC_000011.10:g.2884729G>A	gnomAD
CDKN1C	P49918	p.Ala255Thr	RCV000527953	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884727C>T	ClinVar
CDKN1C	P49918	p.Ala255Thr	rs760038657	missense variant	-	NC_000011.10:g.2884727C>T	ExAC,gnomAD
CDKN1C	P49918	p.Ala256Val	rs1265275989	missense variant	-	NC_000011.10:g.2884723G>A	gnomAD
CDKN1C	P49918	p.Ala257Ser	RCV000535977	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884721C>A	ClinVar
CDKN1C	P49918	p.Ala257Gly	RCV000227798	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884720G>C	ClinVar
CDKN1C	P49918	p.Ala257Gly	rs878853642	missense variant	-	NC_000011.10:g.2884720G>C	TOPMed,gnomAD
CDKN1C	P49918	p.Ala257Ser	rs754283907	missense variant	-	NC_000011.10:g.2884721C>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Ser258Asn	rs766858608	missense variant	-	NC_000011.10:g.2884717C>T	ExAC,gnomAD
CDKN1C	P49918	p.Ala259Ser	rs773881541	missense variant	-	NC_000011.10:g.2884715C>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Asn260Ser	rs1282204263	missense variant	-	NC_000011.10:g.2884711T>C	TOPMed,gnomAD
CDKN1C	P49918	p.Gly261Ser	rs768242627	missense variant	-	NC_000011.10:g.2884709C>T	ExAC,gnomAD
CDKN1C	P49918	p.Ala262Thr	RCV000705133	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884706C>T	ClinVar
CDKN1C	P49918	p.Ala262Thr	rs1300586071	missense variant	-	NC_000011.10:g.2884706C>T	gnomAD
CDKN1C	P49918	p.Leu267Pro	rs1254038235	missense variant	-	NC_000011.10:g.2884690A>G	TOPMed
CDKN1C	P49918	p.Ser268Thr	RCV000628552	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884688A>T	ClinVar
CDKN1C	P49918	p.Ser268Thr	rs781340171	missense variant	-	NC_000011.10:g.2884688A>T	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Gly269Arg	rs1275242295	missense variant	-	NC_000011.10:g.2884685C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Pro270Thr	rs1416211722	missense variant	-	NC_000011.10:g.2884682G>T	gnomAD
CDKN1C	P49918	p.Pro270Ser	rs1416211722	missense variant	-	NC_000011.10:g.2884682G>A	gnomAD
CDKN1C	P49918	p.Pro270Thr	RCV000524779	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884682G>T	ClinVar
CDKN1C	P49918	p.Ile272Ser	RCV000119018	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884675A>C	ClinVar
CDKN1C	P49918	p.Ile272Ser	rs515726203	missense variant	-	NC_000011.10:g.2884675A>C	-
CDKN1C	P49918	p.Ser273Cys	RCV000690404	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884672G>C	ClinVar
CDKN1C	P49918	p.Asp274Asn	RCV000029186	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884670C>T	ClinVar
CDKN1C	P49918	p.Asp274Asn	rs387907225	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884670C>T	UniProt,dbSNP
CDKN1C	P49918	p.Asp274Asn	VAR_068848	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884670C>T	UniProt
CDKN1C	P49918	p.Asp274Asn	rs387907225	missense variant	-	NC_000011.10:g.2884670C>T	-
CDKN1C	P49918	p.Phe276Ser	RCV000029184	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884128A>G	ClinVar
CDKN1C	P49918	p.Phe276Val	rs387907223	missense variant	-	NC_000011.10:g.2884129A>C	-
CDKN1C	P49918	p.Phe276Val	rs387907223	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884129A>C	UniProt,dbSNP
CDKN1C	P49918	p.Phe276Val	VAR_068850	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884129A>C	UniProt
CDKN1C	P49918	p.Phe276Ser	rs387907224	missense variant	-	NC_000011.10:g.2884128A>G	-
CDKN1C	P49918	p.Phe276Ser	rs387907224	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884128A>G	UniProt,dbSNP
CDKN1C	P49918	p.Phe276Ser	VAR_068849	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884128A>G	UniProt
CDKN1C	P49918	p.Ala277Thr	rs759474789	missense variant	-	NC_000011.10:g.2884126C>T	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Ala277Val	rs1307229121	missense variant	-	NC_000011.10:g.2884125G>A	gnomAD
CDKN1C	P49918	p.Lys278Glu	rs387907226	missense variant	-	NC_000011.10:g.2884123T>C	-
CDKN1C	P49918	p.Lys278Glu	rs387907226	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884123T>C	UniProt,dbSNP
CDKN1C	P49918	p.Lys278Glu	VAR_068851	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884123T>C	UniProt
CDKN1C	P49918	p.Arg279Leu	RCV000172991	missense variant	Russell-Silver syndrome (SRS)	NC_000011.10:g.2884119C>A	ClinVar
CDKN1C	P49918	p.Arg279Pro	RCV000029185	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884119C>G	ClinVar
CDKN1C	P49918	p.Arg279Pro	rs318240750	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884119C>G	UniProt,dbSNP
CDKN1C	P49918	p.Arg279Pro	VAR_068852	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884119C>G	UniProt
CDKN1C	P49918	p.Lys280Arg	rs1271519927	missense variant	-	NC_000011.10:g.2884116T>C	gnomAD
CDKN1C	P49918	p.Arg281Ile	RCV000240658	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884113C>A	ClinVar
CDKN1C	P49918	p.Arg281Ile	rs886037912	missense variant	-	NC_000011.10:g.2884113C>A	-
CDKN1C	P49918	p.Ser282Ter	RCV000009292	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884110G>T	ClinVar
CDKN1C	P49918	p.Ser282Ter	RCV000521869	missense variant	-	NC_000011.10:g.2884110G>C	ClinVar
CDKN1C	P49918	p.Ala283Val	RCV000763732	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884107G>A	ClinVar
CDKN1C	P49918	p.Ala283Val	RCV000538679	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884107G>A	ClinVar
CDKN1C	P49918	p.Ala283Pro	rs1377763757	missense variant	-	NC_000011.10:g.2884108C>G	TOPMed
CDKN1C	P49918	p.Ala283Val	rs776541692	missense variant	-	NC_000011.10:g.2884107G>A	ExAC,gnomAD
CDKN1C	P49918	p.Pro284Ser	rs1384167261	missense variant	-	NC_000011.10:g.2884105G>A	gnomAD
CDKN1C	P49918	p.Ser287Leu	RCV000628540	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884095G>A	ClinVar
CDKN1C	P49918	p.Ser287Leu	rs928007699	missense variant	-	NC_000011.10:g.2884095G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Gly289Ser	rs1391074477	missense variant	-	NC_000011.10:g.2884090C>T	TOPMed
CDKN1C	P49918	p.Asp290Asn	rs1352481541	missense variant	-	NC_000011.10:g.2884087C>T	gnomAD
CDKN1C	P49918	p.Val291Ile	rs1166638899	missense variant	-	NC_000011.10:g.2884084C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Pro292Leu	rs1317648965	missense variant	-	NC_000011.10:g.2884080G>A	TOPMed
CDKN1C	P49918	p.Ala293Val	rs1384507877	missense variant	-	NC_000011.10:g.2884077G>A	gnomAD
CDKN1C	P49918	p.Cys295Ser	rs772130948	missense variant	-	NC_000011.10:g.2884072A>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro296Ala	rs531059713	missense variant	-	NC_000011.10:g.2884069G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Pro296Ser	rs531059713	missense variant	-	NC_000011.10:g.2884069G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Pro298Gln	rs868414645	missense variant	-	NC_000011.10:g.2884062G>T	gnomAD
CDKN1C	P49918	p.Pro298Leu	rs868414645	missense variant	-	NC_000011.10:g.2884062G>A	gnomAD
CDKN1C	P49918	p.Ala300Ser	rs755160554	missense variant	-	NC_000011.10:g.2884057C>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Ala301Ser	rs749702191	missense variant	-	NC_000011.10:g.2884054C>A	ExAC,gnomAD
CDKN1C	P49918	p.Ala301Thr	rs749702191	missense variant	-	NC_000011.10:g.2884054C>T	ExAC,gnomAD
CDKN1C	P49918	p.Gly303Val	rs1243902953	missense variant	-	NC_000011.10:g.2884047C>A	gnomAD
CDKN1C	P49918	p.Gly303Asp	rs1243902953	missense variant	-	NC_000011.10:g.2884047C>T	gnomAD
CDKN1C	P49918	p.Gly305Val	rs962524119	missense variant	-	NC_000011.10:g.2884041C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Gly305Asp	rs962524119	missense variant	-	NC_000011.10:g.2884041C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Ser306Leu	rs750876855	missense variant	-	NC_000011.10:g.2884038G>A	ExAC,gnomAD
CDKN1C	P49918	p.Ser306Trp	rs750876855	missense variant	-	NC_000011.10:g.2884038G>C	ExAC,gnomAD
CDKN1C	P49918	p.Gln309His	rs1267363722	missense variant	-	NC_000011.10:g.2884028C>G	TOPMed
CDKN1C	P49918	p.Arg312Pro	rs1161543117	missense variant	-	NC_000011.10:g.2884020C>G	gnomAD
CDKN1C	P49918	p.Arg314Lys	rs1015057194	missense variant	-	NC_000011.10:g.2884014C>T	TOPMed
CDKN1C	P49918	p.Arg314Met	rs1015057194	missense variant	-	NC_000011.10:g.2884014C>A	TOPMed
CDKN1C	P49918	p.Arg316Trp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.2884009G>A	NCI-TCGA
CDKN1C	P49918	p.Ser2Ala	rs748680303	missense variant	-	NC_000011.10:g.2885486A>C	ExAC,gnomAD
CDKN1C	P49918	p.Asp3Asn	rs1452796504	missense variant	-	NC_000011.10:g.2885483C>T	TOPMed
CDKN1C	P49918	p.Ala4Val	RCV000628528	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885479G>A	ClinVar
CDKN1C	P49918	p.Ala4Gly	rs201368350	missense variant	-	NC_000011.10:g.2885479G>C	1000Genomes,ExAC,gnomAD
CDKN1C	P49918	p.Ala4Val	rs201368350	missense variant	-	NC_000011.10:g.2885479G>A	1000Genomes,ExAC,gnomAD
CDKN1C	P49918	p.Ser5Phe	rs1367640051	missense variant	-	NC_000011.10:g.2885476G>A	gnomAD
CDKN1C	P49918	p.Leu6Pro	RCV000456489	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885473A>G	ClinVar
CDKN1C	P49918	p.Leu6Pro	rs201715947	missense variant	-	NC_000011.10:g.2885473A>G	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg7Cys	RCV000469288	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885471G>A	ClinVar
CDKN1C	P49918	p.Arg7Cys	rs374634184	missense variant	-	NC_000011.10:g.2885471G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Thr9Ile	rs1300493378	missense variant	-	NC_000011.10:g.2885464G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ser10Tyr	RCV000698775	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885461G>T	ClinVar
CDKN1C	P49918	p.Ser10Phe	rs1420666038	missense variant	-	NC_000011.10:g.2885461G>A	gnomAD
CDKN1C	P49918	p.Ser10Tyr	rs1420666038	missense variant	-	NC_000011.10:g.2885461G>T	gnomAD
CDKN1C	P49918	p.Thr11Ala	RCV000703792	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885459T>C	ClinVar
CDKN1C	P49918	p.Thr11Met	rs1360488872	missense variant	-	NC_000011.10:g.2885458G>A	gnomAD
CDKN1C	P49918	p.Met12Leu	rs483352966	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885456T>G	UniProt,dbSNP
CDKN1C	P49918	p.Met12Leu	VAR_075200	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885456T>G	UniProt
CDKN1C	P49918	p.Met12Leu	rs483352966	missense variant	-	NC_000011.10:g.2885456T>G	-
CDKN1C	P49918	p.Arg14Ter	RCV000722767	frameshift	-	NC_000011.10:g.2885449_2885450insTCTT	ClinVar
CDKN1C	P49918	p.Leu15Pro	rs756961090	missense variant	-	NC_000011.10:g.2885446A>G	ExAC
CDKN1C	P49918	p.Val16Leu	rs1425889083	missense variant	-	NC_000011.10:g.2885444C>G	gnomAD
CDKN1C	P49918	p.Ala17Val	RCV000704283	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885440G>A	ClinVar
CDKN1C	P49918	p.Ala17Val	rs1477196859	missense variant	-	NC_000011.10:g.2885440G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Arg18His	rs954416273	missense variant	-	NC_000011.10:g.2885437C>T	TOPMed
CDKN1C	P49918	p.Arg18Gly	rs1439697461	missense variant	-	NC_000011.10:g.2885438G>C	TOPMed
CDKN1C	P49918	p.Thr20Ala	rs1194168261	missense variant	-	NC_000011.10:g.2885432T>C	gnomAD
CDKN1C	P49918	p.Pro22Ala	rs1487817041	missense variant	-	NC_000011.10:g.2885426G>C	gnomAD
CDKN1C	P49918	p.Val25Leu	rs758244300	missense variant	-	NC_000011.10:g.2885417C>A	ExAC,gnomAD
CDKN1C	P49918	p.Val25Met	rs758244300	missense variant	-	NC_000011.10:g.2885417C>T	ExAC,gnomAD
CDKN1C	P49918	p.Val25Gly	rs752482298	missense variant	-	NC_000011.10:g.2885416A>C	ExAC,gnomAD
CDKN1C	P49918	p.Arg26Gly	rs765255367	missense variant	-	NC_000011.10:g.2885414G>C	ExAC
CDKN1C	P49918	p.Arg26His	rs1277388037	missense variant	-	NC_000011.10:g.2885413C>T	gnomAD
CDKN1C	P49918	p.Thr27Ile	rs1282995815	missense variant	-	NC_000011.10:g.2885410G>A	TOPMed
CDKN1C	P49918	p.Ser28Gly	rs1316822895	missense variant	-	NC_000011.10:g.2885408T>C	TOPMed
CDKN1C	P49918	p.Ala29Val	rs1319614382	missense variant	-	NC_000011.10:g.2885404G>A	gnomAD
CDKN1C	P49918	p.Arg31Ser	RCV000628566	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885399G>T	ClinVar
CDKN1C	P49918	p.Arg31Cys	RCV000702468	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885399G>A	ClinVar
CDKN1C	P49918	p.Arg31Cys	rs1467420956	missense variant	-	NC_000011.10:g.2885399G>A	TOPMed
CDKN1C	P49918	p.Arg31Ser	rs1467420956	missense variant	-	NC_000011.10:g.2885399G>T	TOPMed
CDKN1C	P49918	p.Ser32Arg	rs753973370	missense variant	-	NC_000011.10:g.2885396T>G	ExAC,gnomAD
CDKN1C	P49918	p.Pro36Arg	RCV000722416	missense variant	-	NC_000011.10:g.2885383G>C	ClinVar
CDKN1C	P49918	p.Pro36Arg	RCV000691699	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885383G>C	ClinVar
CDKN1C	P49918	p.His39Gln	rs760980314	missense variant	-	NC_000011.10:g.2885373G>T	ExAC,gnomAD
CDKN1C	P49918	p.His39Tyr	rs1360245860	missense variant	-	NC_000011.10:g.2885375G>A	gnomAD
CDKN1C	P49918	p.Glu41Ter	rs483352967	stop gained	-	NC_000011.10:g.2885369C>A	TOPMed
CDKN1C	P49918	p.Glu41Val	rs1461879669	missense variant	-	NC_000011.10:g.2885368T>A	TOPMed
CDKN1C	P49918	p.Ser43Arg	rs1426087860	missense variant	-	NC_000011.10:g.2885361G>C	gnomAD
CDKN1C	P49918	p.Arg44His	RCV000691794	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885359C>T	ClinVar
CDKN1C	P49918	p.Arg44Leu	RCV000527236	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885359C>A	ClinVar
CDKN1C	P49918	p.Arg44Leu	rs1477382841	missense variant	-	NC_000011.10:g.2885359C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Arg44Cys	rs956525226	missense variant	-	NC_000011.10:g.2885360G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Gln47Ter	RCV000009287	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885351G>A	ClinVar
CDKN1C	P49918	p.Gln47Ter	rs137852766	stop gained	Beckwith-wiedemann syndrome (bws)	NC_000011.10:g.2885351G>A	-
CDKN1C	P49918	p.Ala48Val	RCV000474168	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885347G>A	ClinVar
CDKN1C	P49918	p.Ala48Asp	rs774548414	missense variant	-	NC_000011.10:g.2885347G>T	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Ala48Val	rs774548414	missense variant	-	NC_000011.10:g.2885347G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg49Ser	rs749713233	missense variant	-	NC_000011.10:g.2885345G>T	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg49Cys	rs749713233	missense variant	-	NC_000011.10:g.2885345G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg49Leu	rs1258326298	missense variant	-	NC_000011.10:g.2885344C>A	gnomAD
CDKN1C	P49918	p.Ala51Asp	rs1379349678	missense variant	-	NC_000011.10:g.2885338G>T	TOPMed
CDKN1C	P49918	p.Leu53Pro	rs483352968	missense variant	-	NC_000011.10:g.2885332A>G	-
CDKN1C	P49918	p.Leu53Pro	rs483352968	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885332A>G	UniProt,dbSNP
CDKN1C	P49918	p.Leu53Pro	VAR_075201	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885332A>G	UniProt
CDKN1C	P49918	p.Ala55Ser	rs1013973901	missense variant	-	NC_000011.10:g.2885327C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Gln58Glu	rs1450572665	missense variant	-	NC_000011.10:g.2885318G>C	gnomAD
CDKN1C	P49918	p.Asn59Lys	rs1439751169	missense variant	-	NC_000011.10:g.2885313G>T	TOPMed
CDKN1C	P49918	p.Asn59Tyr	rs1402483625	missense variant	-	NC_000011.10:g.2885315T>A	gnomAD
CDKN1C	P49918	p.Arg60Leu	rs758011168	missense variant	-	NC_000011.10:g.2885311C>A	ExAC,gnomAD
CDKN1C	P49918	p.Trp61Ser	RCV000628554	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885308C>G	ClinVar
CDKN1C	P49918	p.Trp61Ser	rs1554938211	missense variant	-	NC_000011.10:g.2885308C>G	-
CDKN1C	P49918	p.Tyr63Ter	rs754972138	stop gained	-	NC_000011.10:g.2885301G>C	ExAC,gnomAD
CDKN1C	P49918	p.Tyr63Asp	rs778520280	missense variant	-	NC_000011.10:g.2885303A>C	ExAC,gnomAD
CDKN1C	P49918	p.Asp64Ter	RCV000628545	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885300_2885301insCCAGCTGGAA	ClinVar
CDKN1C	P49918	p.Gln66Ter	RCV000539829	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885295del	ClinVar
CDKN1C	P49918	p.Gln66Arg	rs930266866	missense variant	-	NC_000011.10:g.2885293T>C	TOPMed
CDKN1C	P49918	p.Gln66His	rs1424141761	missense variant	-	NC_000011.10:g.2885292C>A	gnomAD
CDKN1C	P49918	p.Pro70Leu	rs483352970	missense variant	-	NC_000011.10:g.2885281G>A	ExAC,gnomAD
CDKN1C	P49918	p.Pro70Leu	rs483352970	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885281G>A	UniProt,dbSNP
CDKN1C	P49918	p.Pro70Leu	VAR_075203	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885281G>A	UniProt
CDKN1C	P49918	p.Pro70Thr	rs753651871	missense variant	-	NC_000011.10:g.2885282G>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro70Ser	rs753651871	missense variant	-	NC_000011.10:g.2885282G>A	ExAC,gnomAD
CDKN1C	P49918	p.Pro70Gln	rs483352970	missense variant	-	NC_000011.10:g.2885281G>T	ExAC,gnomAD
CDKN1C	P49918	p.Arg72Gln	rs1238182415	missense variant	-	NC_000011.10:g.2885275C>T	gnomAD
CDKN1C	P49918	p.Gly73Asp	RCV000465999	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885272C>T	ClinVar
CDKN1C	P49918	p.Gly73Asp	rs1060500179	missense variant	-	NC_000011.10:g.2885272C>T	gnomAD
CDKN1C	P49918	p.Gly73Ser	rs1197451349	missense variant	-	NC_000011.10:g.2885273C>T	gnomAD
CDKN1C	P49918	p.Gly75Arg	RCV000547901	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885267C>T	ClinVar
CDKN1C	P49918	p.Gly75Arg	rs1224283171	missense variant	-	NC_000011.10:g.2885267C>T	gnomAD
CDKN1C	P49918	p.Arg76Leu	RCV000688516	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885263C>A	ClinVar
CDKN1C	P49918	p.Arg76Cys	RCV000628559	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885264G>A	ClinVar
CDKN1C	P49918	p.Arg76Cys	rs750526402	missense variant	-	NC_000011.10:g.2885264G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg76Leu	rs1312652368	missense variant	-	NC_000011.10:g.2885263C>A	gnomAD
CDKN1C	P49918	p.Gln78His	rs1244338457	missense variant	-	NC_000011.10:g.2885256C>A	gnomAD
CDKN1C	P49918	p.Trp79Ter	rs1379762772	stop gained	-	NC_000011.10:g.2885254C>T	gnomAD
CDKN1C	P49918	p.Thr80Ile	rs1475576590	missense variant	-	NC_000011.10:g.2885251G>A	TOPMed
CDKN1C	P49918	p.Glu81Gln	rs1038466183	missense variant	-	NC_000011.10:g.2885249C>G	TOPMed
CDKN1C	P49918	p.Val82Met	rs1446106642	missense variant	-	NC_000011.10:g.2885246C>T	gnomAD
CDKN1C	P49918	p.Ser84Arg	rs1295465465	missense variant	-	NC_000011.10:g.2885238G>T	gnomAD
CDKN1C	P49918	p.Ser86Leu	rs897964106	missense variant	-	NC_000011.10:g.2885233G>A	gnomAD
CDKN1C	P49918	p.Ser86Trp	rs897964106	missense variant	-	NC_000011.10:g.2885233G>C	gnomAD
CDKN1C	P49918	p.Val87Met	rs1161598406	missense variant	-	NC_000011.10:g.2885231C>T	gnomAD
CDKN1C	P49918	p.Ala89Thr	RCV000528594	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885225C>T	ClinVar
CDKN1C	P49918	p.Ala89Thr	rs1177512372	missense variant	-	NC_000011.10:g.2885225C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Phe90Ser	rs1269049521	missense variant	-	NC_000011.10:g.2885221A>G	gnomAD
CDKN1C	P49918	p.Tyr91His	RCV000449560	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885219A>G	ClinVar
CDKN1C	P49918	p.Tyr91His	rs1060499712	missense variant	-	NC_000011.10:g.2885219A>G	-
CDKN1C	P49918	p.Val95Met	rs762106424	missense variant	-	NC_000011.10:g.2885207C>T	ExAC,gnomAD
CDKN1C	P49918	p.Gln96Arg	rs1220704341	missense variant	-	NC_000011.10:g.2885203T>C	gnomAD
CDKN1C	P49918	p.Gly98Glu	rs1398439636	missense variant	-	NC_000011.10:g.2885197C>T	TOPMed
CDKN1C	P49918	p.Arg99Cys	rs1356534188	missense variant	-	NC_000011.10:g.2885195G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Arg99His	rs1287328131	missense variant	-	NC_000011.10:g.2885194C>T	gnomAD
CDKN1C	P49918	p.Arg101Cys	rs1303693319	missense variant	-	NC_000011.10:g.2885189G>A	gnomAD
CDKN1C	P49918	p.Leu102Gln	rs774805080	missense variant	-	NC_000011.10:g.2885185A>T	ExAC,gnomAD
CDKN1C	P49918	p.Leu103Val	RCV000693618	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885183G>C	ClinVar
CDKN1C	P49918	p.Leu103Val	rs1416112498	missense variant	-	NC_000011.10:g.2885183G>C	TOPMed
CDKN1C	P49918	p.Leu104Ter	RCV000009289	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885179_2885180delinsC	ClinVar
CDKN1C	P49918	p.Ala105Ser	rs1354077920	missense variant	-	NC_000011.10:g.2885177C>A	TOPMed
CDKN1C	P49918	p.Arg107Gln	rs763525000	missense variant	-	NC_000011.10:g.2885170C>T	ExAC,gnomAD
CDKN1C	P49918	p.Arg107Trp	rs1301124627	missense variant	-	NC_000011.10:g.2885171G>A	gnomAD
CDKN1C	P49918	p.Ala112Val	rs1176153874	missense variant	-	NC_000011.10:g.2885155G>A	gnomAD
CDKN1C	P49918	p.Ala112Pro	rs1378798027	missense variant	-	NC_000011.10:g.2885156C>G	gnomAD
CDKN1C	P49918	p.Ala112Ter	RCV000172989	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885157dup	ClinVar
CDKN1C	P49918	p.Ala114Val	RCV000628567	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885149G>A	ClinVar
CDKN1C	P49918	p.Ala114Val	rs1486019596	missense variant	-	NC_000011.10:g.2885149G>A	TOPMed
CDKN1C	P49918	p.Ser116Asn	rs1197769841	missense variant	-	NC_000011.10:g.2885143C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Ser116Ile	rs1197769841	missense variant	-	NC_000011.10:g.2885143C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Pro117Arg	RCV000553814	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885140G>C	ClinVar
CDKN1C	P49918	p.Pro117Ser	RCV000541194	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885141G>A	ClinVar
CDKN1C	P49918	p.Pro117Gln	rs945890937	missense variant	-	NC_000011.10:g.2885140G>T	TOPMed,gnomAD
CDKN1C	P49918	p.Pro117Arg	rs945890937	missense variant	-	NC_000011.10:g.2885140G>C	TOPMed,gnomAD
CDKN1C	P49918	p.Pro117Ser	rs570636789	missense variant	-	NC_000011.10:g.2885141G>A	1000Genomes,ExAC,gnomAD
CDKN1C	P49918	p.Pro118Ala	RCV000628546	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885138G>C	ClinVar
CDKN1C	P49918	p.Pro118Leu	RCV000464222	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885137G>A	ClinVar
CDKN1C	P49918	p.Pro118Ala	rs772684721	missense variant	-	NC_000011.10:g.2885138G>C	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Pro118Arg	rs771731330	missense variant	-	NC_000011.10:g.2885137G>C	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Pro118Leu	rs771731330	missense variant	-	NC_000011.10:g.2885137G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Leu119Phe	RCV000529970	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885135G>A	ClinVar
CDKN1C	P49918	p.Leu119Phe	rs1323156745	missense variant	-	NC_000011.10:g.2885135G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Glu120Lys	rs1220263188	missense variant	-	NC_000011.10:g.2885132C>T	gnomAD
CDKN1C	P49918	p.Glu120Gln	RCV000692989	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885132C>G	ClinVar
CDKN1C	P49918	p.Ala122Thr	rs551863674	missense variant	-	NC_000011.10:g.2885126C>T	1000Genomes,TOPMed,gnomAD
CDKN1C	P49918	p.Ala123Thr	rs1395949690	missense variant	-	NC_000011.10:g.2885123C>T	TOPMed
CDKN1C	P49918	p.Ala123Ser	rs1395949690	missense variant	-	NC_000011.10:g.2885123C>A	TOPMed
CDKN1C	P49918	p.Ser125Pro	RCV000555220	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885117A>G	ClinVar
CDKN1C	P49918	p.Ser125Tyr	RCV000706635	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885116G>T	ClinVar
CDKN1C	P49918	p.Ser125Pro	rs1319558011	missense variant	-	NC_000011.10:g.2885117A>G	TOPMed
CDKN1C	P49918	p.Leu126Phe	rs1302975990	missense variant	-	NC_000011.10:g.2885114G>A	gnomAD
CDKN1C	P49918	p.Leu129Ter	RCV000628538	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885101_2885108del	ClinVar
CDKN1C	P49918	p.Glu130Lys	RCV000693640	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885102C>T	ClinVar
CDKN1C	P49918	p.Glu130Asp	rs778772076	missense variant	-	NC_000011.10:g.2885100C>A	ExAC,gnomAD
CDKN1C	P49918	p.Glu131Gly	rs1225742557	missense variant	-	NC_000011.10:g.2885098T>C	TOPMed
CDKN1C	P49918	p.Ala132Val	RCV000529122	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885095G>A	ClinVar
CDKN1C	P49918	p.Ala132Thr	rs1479013685	missense variant	-	NC_000011.10:g.2885096C>T	gnomAD
CDKN1C	P49918	p.Ala132Val	rs1364155293	missense variant	-	NC_000011.10:g.2885095G>A	gnomAD
CDKN1C	P49918	p.Pro133Ser	rs1192914687	missense variant	-	NC_000011.10:g.2885093G>A	gnomAD
CDKN1C	P49918	p.Glu134Gln	rs1013695050	missense variant	-	NC_000011.10:g.2885090C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Glu134Ter	RCV000172990	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885091dup	ClinVar
CDKN1C	P49918	p.Glu134Gln	RCV000471932	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885090C>G	ClinVar
CDKN1C	P49918	p.Pro137Leu	RCV000697489	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885080G>A	ClinVar
CDKN1C	P49918	p.Pro137Leu	rs1445830484	missense variant	-	NC_000011.10:g.2885080G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Val139Ile	RCV000546289	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885075C>T	ClinVar
CDKN1C	P49918	p.Val139Ile	rs1183623363	missense variant	-	NC_000011.10:g.2885075C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Ala143Val	rs896475967	missense variant	-	NC_000011.10:g.2885062G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Pro144Ter	RCV000594212	frameshift	-	NC_000011.10:g.2885062del	ClinVar
CDKN1C	P49918	p.Ala145Pro	rs1241880588	missense variant	-	NC_000011.10:g.2885057C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Pro148Gln	RCV000558836	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885047G>T	ClinVar
CDKN1C	P49918	p.Pro148Gln	rs754671425	missense variant	-	NC_000011.10:g.2885047G>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro149Leu	RCV000467968	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885044G>A	ClinVar
CDKN1C	P49918	p.Pro149Leu	rs1060500175	missense variant	-	NC_000011.10:g.2885044G>A	-
CDKN1C	P49918	p.Pro150Ter	RCV000172982	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885045del	ClinVar
CDKN1C	P49918	p.Val151Ile	RCV000543063	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885039C>T	ClinVar
CDKN1C	P49918	p.Val151Ile	rs753342439	missense variant	-	NC_000011.10:g.2885039C>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro158Leu	rs1320293569	missense variant	-	NC_000011.10:g.2885017G>A	TOPMed
CDKN1C	P49918	p.Pro158Ala	rs483352981	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885018G>C	UniProt,dbSNP
CDKN1C	P49918	p.Pro158Ala	VAR_075204	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885018G>C	UniProt
CDKN1C	P49918	p.Pro158Ala	rs483352981	missense variant	-	NC_000011.10:g.2885018G>C	-
CDKN1C	P49918	p.Ala159Thr	RCV000689463	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2885015C>T	ClinVar
CDKN1C	P49918	p.Ala159Ser	rs1237188823	missense variant	-	NC_000011.10:g.2885015C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ala159Pro	rs1237188823	missense variant	-	NC_000011.10:g.2885015C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Pro164Leu	RCV000536339	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884999G>A	ClinVar
CDKN1C	P49918	p.Pro164Leu	rs1315960524	missense variant	-	NC_000011.10:g.2884999G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Pro164Ala	rs1323691763	missense variant	-	NC_000011.10:g.2885000G>C	gnomAD
CDKN1C	P49918	p.Val165Ile	RCV000458924	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884997C>T	ClinVar
CDKN1C	P49918	p.Val165Ile	rs1060500172	missense variant	-	NC_000011.10:g.2884997C>T	-
CDKN1C	P49918	p.Val165Ala	rs1191295512	missense variant	-	NC_000011.10:g.2884996A>G	TOPMed
CDKN1C	P49918	p.Ala166Val	rs1183329789	missense variant	-	NC_000011.10:g.2884993G>A	TOPMed
CDKN1C	P49918	p.Ala166Pro	rs1419349248	missense variant	-	NC_000011.10:g.2884994C>G	TOPMed
CDKN1C	P49918	p.Ala167Pro	rs1038604691	missense variant	-	NC_000011.10:g.2884991C>G	TOPMed
CDKN1C	P49918	p.Ala171_Ala174del	VAR_001404	inframe_deletion	-	-	UniProt
CDKN1C	P49918	p.Pro172Ala	rs1342240264	missense variant	-	NC_000011.10:g.2884976G>C	gnomAD
CDKN1C	P49918	p.Val175Ala	rs1309218520	missense variant	-	NC_000011.10:g.2884966A>G	TOPMed
CDKN1C	P49918	p.Ala176Leu	rs1554937984	missense variant	-	NC_000011.10:g.2884963_2884964delinsAG	-
CDKN1C	P49918	p.Ala176Leu	RCV000628593	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884963_2884964delinsAG	ClinVar
CDKN1C	P49918	p.Ala176Val	rs1383784539	missense variant	-	NC_000011.10:g.2884963G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ala176Pro	rs1312921087	missense variant	-	NC_000011.10:g.2884964C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Val177Ile	RCV000464198	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884961C>T	ClinVar
CDKN1C	P49918	p.Val177Ala	rs1288020047	missense variant	-	NC_000011.10:g.2884960A>G	TOPMed,gnomAD
CDKN1C	P49918	p.Val177Ile	rs1060500174	missense variant	-	NC_000011.10:g.2884961C>T	gnomAD
CDKN1C	P49918	p.Val177Phe	rs1060500174	missense variant	-	NC_000011.10:g.2884961C>A	gnomAD
CDKN1C	P49918	p.Leu178Pro	RCV000456909	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884957A>G	ClinVar
CDKN1C	P49918	p.Leu178Pro	rs1060500177	missense variant	-	NC_000011.10:g.2884957A>G	TOPMed,gnomAD
CDKN1C	P49918	p.Pro180Leu	RCV000628561	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884951G>A	ClinVar
CDKN1C	P49918	p.Pro180Leu	rs113374868	missense variant	-	NC_000011.10:g.2884951G>A	-
CDKN1C	P49918	p.Ala181Val	RCV000705163	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884948G>A	ClinVar
CDKN1C	P49918	p.Ala181Val	rs1332953428	missense variant	-	NC_000011.10:g.2884948G>A	gnomAD
CDKN1C	P49918	p.Ala181_Pro184del	VAR_001405	inframe_deletion	-	-	UniProt
CDKN1C	P49918	p.Pro182Leu	rs1465874610	missense variant	-	NC_000011.10:g.2884945G>A	gnomAD
CDKN1C	P49918	p.Ala183Val	rs1163195873	missense variant	-	NC_000011.10:g.2884942G>A	TOPMed
CDKN1C	P49918	p.Pro184Leu	rs1050598447	missense variant	-	NC_000011.10:g.2884939G>A	TOPMed
CDKN1C	P49918	p.Pro184Ser	rs1399078248	missense variant	-	NC_000011.10:g.2884940G>A	gnomAD
CDKN1C	P49918	p.Pro186Leu	RCV000686502	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884933G>A	ClinVar
CDKN1C	P49918	p.Pro186Leu	rs1167747239	missense variant	-	NC_000011.10:g.2884933G>A	gnomAD
CDKN1C	P49918	p.Ala187Ser	rs1163798897	missense variant	-	NC_000011.10:g.2884931C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ala187Val	rs1443539133	missense variant	-	NC_000011.10:g.2884930G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Pro188Ala	rs1474613343	missense variant	-	NC_000011.10:g.2884928G>C	gnomAD
CDKN1C	P49918	p.Pro188Leu	rs1370733962	missense variant	-	NC_000011.10:g.2884927G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ala189Val	rs1188784737	missense variant	-	NC_000011.10:g.2884924G>A	gnomAD
CDKN1C	P49918	p.Pro190Leu	rs1444091895	missense variant	-	NC_000011.10:g.2884921G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Ala191Ser	RCV000457773	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884919C>A	ClinVar
CDKN1C	P49918	p.Ala191Ser	rs1060500180	missense variant	-	NC_000011.10:g.2884919C>A	gnomAD
CDKN1C	P49918	p.Pro192Arg	RCV000693644	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884915G>C	ClinVar
CDKN1C	P49918	p.Pro192Arg	rs1377428359	missense variant	-	NC_000011.10:g.2884915G>C	TOPMed
CDKN1C	P49918	p.Pro194Leu	rs1458423964	missense variant	-	NC_000011.10:g.2884909G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Val195Ala	RCV000539515	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884906A>G	ClinVar
CDKN1C	P49918	p.Val195Ala	RCV000735112	missense variant	-	NC_000011.10:g.2884906A>G	ClinVar
CDKN1C	P49918	p.Val195Ala	rs1261515352	missense variant	-	NC_000011.10:g.2884906A>G	TOPMed,gnomAD
CDKN1C	P49918	p.Ala196Pro	RCV000628534	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884904C>G	ClinVar
CDKN1C	P49918	p.Ala196Pro	rs1281835164	missense variant	-	NC_000011.10:g.2884904C>G	TOPMed
CDKN1C	P49918	p.Pro198Leu	rs2583439	missense variant	-	NC_000011.10:g.2884897G>A	TOPMed
CDKN1C	P49918	p.Pro198Arg	rs2583439	missense variant	-	NC_000011.10:g.2884897G>C	TOPMed
CDKN1C	P49918	p.Pro200_Ala203del	VAR_001406	inframe_deletion	-	-	UniProt
CDKN1C	P49918	p.Ala201Val	rs1489659757	missense variant	-	NC_000011.10:g.2884888G>A	gnomAD
CDKN1C	P49918	p.Ala203Ter	RCV000681670	frameshift	-	NC_000011.10:g.2884883_2884884del	ClinVar
CDKN1C	P49918	p.Pro204Ala	RCV000704183	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884880G>C	ClinVar
CDKN1C	P49918	p.Pro204Ala	rs1345683292	missense variant	-	NC_000011.10:g.2884880G>C	TOPMed
CDKN1C	P49918	p.Pro204Ser	rs1345683292	missense variant	-	NC_000011.10:g.2884880G>A	TOPMed
CDKN1C	P49918	p.Ala205Gly	rs1305191870	missense variant	-	NC_000011.10:g.2884876G>C	TOPMed
CDKN1C	P49918	p.Pro206Arg	rs1182342	missense variant	-	NC_000011.10:g.2884873G>C	TOPMed,gnomAD
CDKN1C	P49918	p.Pro206_Ala209del	VAR_001407	inframe_deletion	-	-	UniProt
CDKN1C	P49918	p.Ala207Thr	RCV000628537	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884871C>T	ClinVar
CDKN1C	P49918	p.Ala207Thr	rs1554937870	missense variant	-	NC_000011.10:g.2884871C>T	-
CDKN1C	P49918	p.Ala209Thr	RCV000628550	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884865C>T	ClinVar
CDKN1C	P49918	p.Ala209Gly	RCV000686644	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884864G>C	ClinVar
CDKN1C	P49918	p.Ala209Thr	rs750581456	missense variant	-	NC_000011.10:g.2884865C>T	ExAC,gnomAD
CDKN1C	P49918	p.Ala211Thr	RCV000462042	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884859C>T	ClinVar
CDKN1C	P49918	p.Ala211Ter	RCV000172984	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884868_2884869insAGCGGGGCCGG	ClinVar
CDKN1C	P49918	p.Ala211Ter	RCV000172985	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884859delinsTT	ClinVar
CDKN1C	P49918	p.Ala211Thr	rs1060500178	missense variant	-	NC_000011.10:g.2884859C>T	TOPMed
CDKN1C	P49918	p.Pro212Ter	RCV000172986	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884858del	ClinVar
CDKN1C	P49918	p.Ala213Ter	RCV000172983	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884858_2884882dup	ClinVar
CDKN1C	P49918	p.Pro214Leu	RCV000700299	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884849G>A	ClinVar
CDKN1C	P49918	p.Pro214Ter	RCV000172987	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884846_2884849delinsCCC	ClinVar
CDKN1C	P49918	p.Pro214Ser	rs562237921	missense variant	-	NC_000011.10:g.2884850G>A	1000Genomes,TOPMed
CDKN1C	P49918	p.Pro214Thr	rs562237921	missense variant	-	NC_000011.10:g.2884850G>T	1000Genomes,TOPMed
CDKN1C	P49918	p.Ala215Asp	RCV000475530	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884846G>T	ClinVar
CDKN1C	P49918	p.Ala215Pro	rs1450071551	missense variant	-	NC_000011.10:g.2884847C>G	TOPMed
CDKN1C	P49918	p.Ala215Thr	rs1450071551	missense variant	-	NC_000011.10:g.2884847C>T	TOPMed
CDKN1C	P49918	p.Ala215Asp	rs1060500176	missense variant	-	NC_000011.10:g.2884846G>T	TOPMed
CDKN1C	P49918	p.Pro216Ter	RCV000685583	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884846del	ClinVar
CDKN1C	P49918	p.Asp217Glu	rs751669088	missense variant	-	NC_000011.10:g.2884839G>C	ExAC,gnomAD
CDKN1C	P49918	p.Asp217Val	rs3741342	missense variant	-	NC_000011.10:g.2884840T>A	TOPMed
CDKN1C	P49918	p.Ala218Val	RCV000687878	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884837G>A	ClinVar
CDKN1C	P49918	p.Pro220Leu	rs763289302	missense variant	-	NC_000011.10:g.2884831G>A	ExAC,gnomAD
CDKN1C	P49918	p.Pro220Thr	rs1329147434	missense variant	-	NC_000011.10:g.2884832G>T	TOPMed
CDKN1C	P49918	p.Gln221Ter	rs1229546713	stop gained	-	NC_000011.10:g.2884829G>A	gnomAD
CDKN1C	P49918	p.Glu222Gln	rs775889163	missense variant	-	NC_000011.10:g.2884826C>G	ExAC,TOPMed
CDKN1C	P49918	p.Ala224Thr	RCV000462429	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884820C>T	ClinVar
CDKN1C	P49918	p.Ala224Thr	rs528634940	missense variant	-	NC_000011.10:g.2884820C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Glu225Ter	RCV000693066	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884817C>A	ClinVar
CDKN1C	P49918	p.Gln226Glu	RCV000474244	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884814G>C	ClinVar
CDKN1C	P49918	p.Gln226Pro	rs1424651848	missense variant	-	NC_000011.10:g.2884813T>G	gnomAD
CDKN1C	P49918	p.Gln226Ter	rs483352987	stop gained	-	NC_000011.10:g.2884814G>A	ExAC,gnomAD
CDKN1C	P49918	p.Gln226Glu	rs483352987	missense variant	-	NC_000011.10:g.2884814G>C	ExAC,gnomAD
CDKN1C	P49918	p.Gly227Val	rs1180635221	missense variant	-	NC_000011.10:g.2884810C>A	gnomAD
CDKN1C	P49918	p.Gly227Cys	rs771502215	missense variant	-	NC_000011.10:g.2884811C>A	ExAC,gnomAD
CDKN1C	P49918	p.Gln230Ter	RCV000593457	frameshift	-	NC_000011.10:g.2884801del	ClinVar
CDKN1C	P49918	p.Gly231Arg	RCV000693814	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884799C>T	ClinVar
CDKN1C	P49918	p.Gly231Glu	rs1179846540	missense variant	-	NC_000011.10:g.2884798C>T	gnomAD
CDKN1C	P49918	p.Gln232Ter	RCV000192927	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884796G>A	ClinVar
CDKN1C	P49918	p.Gln232His	rs1295497799	missense variant	-	NC_000011.10:g.2884794C>G	TOPMed
CDKN1C	P49918	p.Gln232Ter	rs797045445	stop gained	-	NC_000011.10:g.2884796G>A	-
CDKN1C	P49918	p.Arg233Gln	RCV000543609	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884791_2884792delinsCT	ClinVar
CDKN1C	P49918	p.Arg233Cys	rs773932111	missense variant	-	NC_000011.10:g.2884793G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg233Pro	rs564726941	missense variant	-	NC_000011.10:g.2884792C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg233Gln	rs1554937778	missense variant	-	NC_000011.10:g.2884791_2884792delinsCT	-
CDKN1C	P49918	p.Arg233Gly	rs773932111	missense variant	-	NC_000011.10:g.2884793G>C	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Arg233His	rs564726941	missense variant	-	NC_000011.10:g.2884792C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Gly234Val	rs1203065343	missense variant	-	NC_000011.10:g.2884789C>A	TOPMed
CDKN1C	P49918	p.Glu236Ter	RCV000695961	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884784C>A	ClinVar
CDKN1C	P49918	p.Pro237Ser	RCV000560692	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884781G>A	ClinVar
CDKN1C	P49918	p.Pro237Ser	rs1240280374	missense variant	-	NC_000011.10:g.2884781G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Leu238Phe	rs878853640	missense variant	-	NC_000011.10:g.2884778G>A	TOPMed
CDKN1C	P49918	p.Leu238Phe	RCV000227356	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884778G>A	ClinVar
CDKN1C	P49918	p.Ala239Ser	rs781428134	missense variant	-	NC_000011.10:g.2884775C>A	ExAC,gnomAD
CDKN1C	P49918	p.Gly245Arg	RCV000459988	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884757C>T	ClinVar
CDKN1C	P49918	p.Gly245Arg	rs1060500181	missense variant	-	NC_000011.10:g.2884757C>T	-
CDKN1C	P49918	p.Ser247Ter	RCV000009290	nonsense	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884750G>T	ClinVar
CDKN1C	P49918	p.Ser247Leu	RCV000476304	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884750G>A	ClinVar
CDKN1C	P49918	p.Gly248Arg	RCV000698846	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884748C>T	ClinVar
CDKN1C	P49918	p.Arg249Cys	rs878853641	missense variant	-	NC_000011.10:g.2884745G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Arg249Cys	RCV000232898	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884745G>A	ClinVar
CDKN1C	P49918	p.Pro250His	rs753022994	missense variant	-	NC_000011.10:g.2884741G>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro250Leu	rs753022994	missense variant	-	NC_000011.10:g.2884741G>A	ExAC,gnomAD
CDKN1C	P49918	p.Ala251Ter	RCV000549523	frameshift	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884727_2884738delinsGCAC	ClinVar
CDKN1C	P49918	p.Ala251Val	rs765542916	missense variant	-	NC_000011.10:g.2884738G>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Gly253Arg	rs1462025809	missense variant	-	NC_000011.10:g.2884733C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Gly253Ser	rs1462025809	missense variant	-	NC_000011.10:g.2884733C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Thr254Ile	rs1247486281	missense variant	-	NC_000011.10:g.2884729G>A	gnomAD
CDKN1C	P49918	p.Ala255Thr	RCV000527953	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884727C>T	ClinVar
CDKN1C	P49918	p.Ala255Thr	rs760038657	missense variant	-	NC_000011.10:g.2884727C>T	ExAC,gnomAD
CDKN1C	P49918	p.Ala256Val	rs1265275989	missense variant	-	NC_000011.10:g.2884723G>A	gnomAD
CDKN1C	P49918	p.Ala257Ser	RCV000535977	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884721C>A	ClinVar
CDKN1C	P49918	p.Ala257Ser	rs754283907	missense variant	-	NC_000011.10:g.2884721C>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Ala257Gly	rs878853642	missense variant	-	NC_000011.10:g.2884720G>C	TOPMed,gnomAD
CDKN1C	P49918	p.Ala257Gly	RCV000227798	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884720G>C	ClinVar
CDKN1C	P49918	p.Ser258Asn	rs766858608	missense variant	-	NC_000011.10:g.2884717C>T	ExAC,gnomAD
CDKN1C	P49918	p.Ala259Ser	rs773881541	missense variant	-	NC_000011.10:g.2884715C>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Asn260Ser	rs1282204263	missense variant	-	NC_000011.10:g.2884711T>C	TOPMed,gnomAD
CDKN1C	P49918	p.Gly261Ser	rs768242627	missense variant	-	NC_000011.10:g.2884709C>T	ExAC,gnomAD
CDKN1C	P49918	p.Ala262Thr	RCV000705133	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884706C>T	ClinVar
CDKN1C	P49918	p.Ala262Thr	rs1300586071	missense variant	-	NC_000011.10:g.2884706C>T	gnomAD
CDKN1C	P49918	p.Leu267Pro	rs1254038235	missense variant	-	NC_000011.10:g.2884690A>G	TOPMed
CDKN1C	P49918	p.Ser268Thr	rs781340171	missense variant	-	NC_000011.10:g.2884688A>T	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Ser268Thr	RCV000628552	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884688A>T	ClinVar
CDKN1C	P49918	p.Gly269Arg	rs1275242295	missense variant	-	NC_000011.10:g.2884685C>G	TOPMed,gnomAD
CDKN1C	P49918	p.Pro270Thr	RCV000524779	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884682G>T	ClinVar
CDKN1C	P49918	p.Pro270Thr	rs1416211722	missense variant	-	NC_000011.10:g.2884682G>T	gnomAD
CDKN1C	P49918	p.Pro270Ser	rs1416211722	missense variant	-	NC_000011.10:g.2884682G>A	gnomAD
CDKN1C	P49918	p.Ile272Ser	RCV000119018	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884675A>C	ClinVar
CDKN1C	P49918	p.Ile272Ser	rs515726203	missense variant	-	NC_000011.10:g.2884675A>C	-
CDKN1C	P49918	p.Ser273Cys	RCV000690404	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884672G>C	ClinVar
CDKN1C	P49918	p.Asp274Asn	RCV000029186	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884670C>T	ClinVar
CDKN1C	P49918	p.Asp274Asn	rs387907225	missense variant	-	NC_000011.10:g.2884670C>T	-
CDKN1C	P49918	p.Asp274Asn	rs387907225	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884670C>T	UniProt,dbSNP
CDKN1C	P49918	p.Asp274Asn	VAR_068848	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884670C>T	UniProt
CDKN1C	P49918	p.Phe276Ser	RCV000029184	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884128A>G	ClinVar
CDKN1C	P49918	p.Phe276Ser	rs387907224	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884128A>G	UniProt,dbSNP
CDKN1C	P49918	p.Phe276Ser	VAR_068849	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884128A>G	UniProt
CDKN1C	P49918	p.Phe276Ser	rs387907224	missense variant	-	NC_000011.10:g.2884128A>G	-
CDKN1C	P49918	p.Phe276Val	rs387907223	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884129A>C	UniProt,dbSNP
CDKN1C	P49918	p.Phe276Val	VAR_068850	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884129A>C	UniProt
CDKN1C	P49918	p.Phe276Val	rs387907223	missense variant	-	NC_000011.10:g.2884129A>C	-
CDKN1C	P49918	p.Ala277Val	rs1307229121	missense variant	-	NC_000011.10:g.2884125G>A	gnomAD
CDKN1C	P49918	p.Ala277Thr	rs759474789	missense variant	-	NC_000011.10:g.2884126C>T	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Lys278Glu	rs387907226	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884123T>C	UniProt,dbSNP
CDKN1C	P49918	p.Lys278Glu	VAR_068851	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884123T>C	UniProt
CDKN1C	P49918	p.Lys278Glu	rs387907226	missense variant	-	NC_000011.10:g.2884123T>C	-
CDKN1C	P49918	p.Arg279Leu	RCV000172991	missense variant	Russell-Silver syndrome (SRS)	NC_000011.10:g.2884119C>A	ClinVar
CDKN1C	P49918	p.Arg279Pro	RCV000029185	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884119C>G	ClinVar
CDKN1C	P49918	p.Arg279Pro	rs318240750	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884119C>G	UniProt,dbSNP
CDKN1C	P49918	p.Arg279Pro	VAR_068852	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884119C>G	UniProt
CDKN1C	P49918	p.Arg279Pro	rs318240750	missense variant	-	NC_000011.10:g.2884119C>G	-
CDKN1C	P49918	p.Lys280Arg	rs1271519927	missense variant	-	NC_000011.10:g.2884116T>C	gnomAD
CDKN1C	P49918	p.Arg281Ile	RCV000240658	missense variant	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE)	NC_000011.10:g.2884113C>A	ClinVar
CDKN1C	P49918	p.Arg281Ile	rs886037912	missense variant	-	NC_000011.10:g.2884113C>A	-
CDKN1C	P49918	p.Ser282Ter	RCV000009292	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884110G>T	ClinVar
CDKN1C	P49918	p.Ser282Ter	RCV000521869	missense variant	-	NC_000011.10:g.2884110G>C	ClinVar
CDKN1C	P49918	p.Ser282Ter	rs267606716	stop gained	Beckwith-wiedemann syndrome (bws)	NC_000011.10:g.2884110G>C	-
CDKN1C	P49918	p.Ala283Val	RCV000763732	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884107G>A	ClinVar
CDKN1C	P49918	p.Ala283Val	RCV000538679	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884107G>A	ClinVar
CDKN1C	P49918	p.Ala283Val	rs776541692	missense variant	-	NC_000011.10:g.2884107G>A	ExAC,gnomAD
CDKN1C	P49918	p.Ala283Pro	rs1377763757	missense variant	-	NC_000011.10:g.2884108C>G	TOPMed
CDKN1C	P49918	p.Pro284Ser	rs1384167261	missense variant	-	NC_000011.10:g.2884105G>A	gnomAD
CDKN1C	P49918	p.Ser287Leu	RCV000628540	missense variant	Beckwith-Wiedemann syndrome (BWS)	NC_000011.10:g.2884095G>A	ClinVar
CDKN1C	P49918	p.Ser287Leu	rs928007699	missense variant	-	NC_000011.10:g.2884095G>A	TOPMed,gnomAD
CDKN1C	P49918	p.Gly289Ser	rs1391074477	missense variant	-	NC_000011.10:g.2884090C>T	TOPMed
CDKN1C	P49918	p.Asp290Asn	rs1352481541	missense variant	-	NC_000011.10:g.2884087C>T	gnomAD
CDKN1C	P49918	p.Val291Ile	rs1166638899	missense variant	-	NC_000011.10:g.2884084C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Pro292Leu	rs1317648965	missense variant	-	NC_000011.10:g.2884080G>A	TOPMed
CDKN1C	P49918	p.Ala293Val	rs1384507877	missense variant	-	NC_000011.10:g.2884077G>A	gnomAD
CDKN1C	P49918	p.Cys295Ser	rs772130948	missense variant	-	NC_000011.10:g.2884072A>T	ExAC,gnomAD
CDKN1C	P49918	p.Pro296Ser	rs531059713	missense variant	-	NC_000011.10:g.2884069G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Pro296Ala	rs531059713	missense variant	-	NC_000011.10:g.2884069G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Pro298Leu	rs868414645	missense variant	-	NC_000011.10:g.2884062G>A	gnomAD
CDKN1C	P49918	p.Pro298Gln	rs868414645	missense variant	-	NC_000011.10:g.2884062G>T	gnomAD
CDKN1C	P49918	p.Ala300Ser	rs755160554	missense variant	-	NC_000011.10:g.2884057C>A	ExAC,TOPMed,gnomAD
CDKN1C	P49918	p.Ala301Ser	rs749702191	missense variant	-	NC_000011.10:g.2884054C>A	ExAC,gnomAD
CDKN1C	P49918	p.Ala301Thr	rs749702191	missense variant	-	NC_000011.10:g.2884054C>T	ExAC,gnomAD
CDKN1C	P49918	p.Gly303Val	rs1243902953	missense variant	-	NC_000011.10:g.2884047C>A	gnomAD
CDKN1C	P49918	p.Gly303Asp	rs1243902953	missense variant	-	NC_000011.10:g.2884047C>T	gnomAD
CDKN1C	P49918	p.Gly305Val	rs962524119	missense variant	-	NC_000011.10:g.2884041C>A	TOPMed,gnomAD
CDKN1C	P49918	p.Gly305Asp	rs962524119	missense variant	-	NC_000011.10:g.2884041C>T	TOPMed,gnomAD
CDKN1C	P49918	p.Ser306Trp	rs750876855	missense variant	-	NC_000011.10:g.2884038G>C	ExAC,gnomAD
CDKN1C	P49918	p.Ser306Leu	rs750876855	missense variant	-	NC_000011.10:g.2884038G>A	ExAC,gnomAD
CDKN1C	P49918	p.Gln309His	rs1267363722	missense variant	-	NC_000011.10:g.2884028C>G	TOPMed
CDKN1C	P49918	p.Arg312Pro	rs1161543117	missense variant	-	NC_000011.10:g.2884020C>G	gnomAD
CDKN1C	P49918	p.Arg314Lys	rs1015057194	missense variant	-	NC_000011.10:g.2884014C>T	TOPMed
CDKN1C	P49918	p.Arg314Met	rs1015057194	missense variant	-	NC_000011.10:g.2884014C>A	TOPMed
MEOX2	P50222	p.His3Pro	rs931616801	missense variant	-	NC_000007.14:g.15686395T>G	gnomAD
MEOX2	P50222	p.His3Arg	rs931616801	missense variant	-	NC_000007.14:g.15686395T>C	gnomAD
MEOX2	P50222	p.Pro4Thr	rs767352695	missense variant	-	NC_000007.14:g.15686393G>T	ExAC,gnomAD
MEOX2	P50222	p.Pro4Arg	rs1350549042	missense variant	-	NC_000007.14:g.15686392G>C	TOPMed
MEOX2	P50222	p.Leu5Arg	rs1455073384	missense variant	-	NC_000007.14:g.15686389A>C	gnomAD
MEOX2	P50222	p.Leu5Val	rs1387161815	missense variant	-	NC_000007.14:g.15686390G>C	gnomAD
MEOX2	P50222	p.Phe6Leu	rs556996298	missense variant	-	NC_000007.14:g.15686387A>G	1000Genomes
MEOX2	P50222	p.Arg10Leu	rs1195725546	missense variant	-	NC_000007.14:g.15686374C>A	TOPMed,gnomAD
MEOX2	P50222	p.Arg10Ser	rs1374143466	missense variant	-	NC_000007.14:g.15686375G>T	gnomAD
MEOX2	P50222	p.Arg10Cys	rs1374143466	missense variant	-	NC_000007.14:g.15686375G>A	gnomAD
MEOX2	P50222	p.Arg10His	rs1195725546	missense variant	-	NC_000007.14:g.15686374C>T	TOPMed,gnomAD
MEOX2	P50222	p.Ser11Arg	rs145506452	missense variant	-	NC_000007.14:g.15686370G>C	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Pro12Leu	rs762475762	missense variant	-	NC_000007.14:g.15686368G>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His13Leu	rs776021075	missense variant	-	NC_000007.14:g.15686365T>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His13Tyr	rs1191384347	missense variant	-	NC_000007.14:g.15686366G>A	TOPMed
MEOX2	P50222	p.His13Gln	rs770334664	missense variant	-	NC_000007.14:g.15686364G>T	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala14Asp	rs148483007	missense variant	-	NC_000007.14:g.15686362G>T	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala14Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15686363C>T	NCI-TCGA
MEOX2	P50222	p.Ala14Gly	rs148483007	missense variant	-	NC_000007.14:g.15686362G>C	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala14Ser	rs1208731845	missense variant	-	NC_000007.14:g.15686363C>A	gnomAD
MEOX2	P50222	p.Thr15Ala	rs777349008	missense variant	-	NC_000007.14:g.15686360T>C	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Thr15Met	rs375110864	missense variant	-	NC_000007.14:g.15686359G>A	ESP,TOPMed,gnomAD
MEOX2	P50222	p.Ala16Val	rs747113547	missense variant	-	NC_000007.14:g.15686356G>A	ExAC,gnomAD
MEOX2	P50222	p.Ala16Thr	rs1405769986	missense variant	-	NC_000007.14:g.15686357C>T	gnomAD
MEOX2	P50222	p.Gln17Arg	rs1321594102	missense variant	-	NC_000007.14:g.15686353T>C	gnomAD
MEOX2	P50222	p.Gln17Glu	rs1265783889	missense variant	-	NC_000007.14:g.15686354G>C	gnomAD
MEOX2	P50222	p.Gly18Ser	rs1404868689	missense variant	-	NC_000007.14:g.15686351C>T	gnomAD
MEOX2	P50222	p.Leu19Trp	rs777670878	missense variant	-	NC_000007.14:g.15686347A>C	ExAC,gnomAD
MEOX2	P50222	p.His20Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15686345G>A	NCI-TCGA
MEOX2	P50222	p.His20Gln	rs568178264	missense variant	-	NC_000007.14:g.15686343G>C	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His20Asn	rs1464557039	missense variant	-	NC_000007.14:g.15686345G>T	gnomAD
MEOX2	P50222	p.Pro21Thr	rs144533382	missense variant	-	NC_000007.14:g.15686342G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Pro21Arg	rs377671894	missense variant	-	NC_000007.14:g.15686341G>C	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Pro21Leu	rs377671894	missense variant	-	NC_000007.14:g.15686341G>A	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser23Tyr	rs931682642	missense variant	-	NC_000007.14:g.15686335G>T	TOPMed,gnomAD
MEOX2	P50222	p.Ser23Phe	rs931682642	missense variant	-	NC_000007.14:g.15686335G>A	TOPMed,gnomAD
MEOX2	P50222	p.Ser23Pro	rs1244654566	missense variant	-	NC_000007.14:g.15686336A>G	TOPMed,gnomAD
MEOX2	P50222	p.Ser23Thr	rs1244654566	missense variant	-	NC_000007.14:g.15686336A>T	TOPMed,gnomAD
MEOX2	P50222	p.Gln24Glu	rs757076676	missense variant	-	NC_000007.14:g.15686333G>C	ExAC,gnomAD
MEOX2	P50222	p.Ser25Thr	rs921018168	missense variant	-	NC_000007.14:g.15686330A>T	gnomAD
MEOX2	P50222	p.Ser26Tyr	rs1263468837	missense variant	-	NC_000007.14:g.15686326G>T	TOPMed,gnomAD
MEOX2	P50222	p.Ser26Cys	rs1263468837	missense variant	-	NC_000007.14:g.15686326G>C	TOPMed,gnomAD
MEOX2	P50222	p.Leu27Phe	rs141763500	missense variant	-	NC_000007.14:g.15686324G>A	ESP,TOPMed,gnomAD
MEOX2	P50222	p.Leu27Val	rs141763500	missense variant	-	NC_000007.14:g.15686324G>C	ESP,TOPMed,gnomAD
MEOX2	P50222	p.Ala28Thr	rs923010324	missense variant	-	NC_000007.14:g.15686321C>T	TOPMed,gnomAD
MEOX2	P50222	p.Ala28Ser	rs923010324	missense variant	-	NC_000007.14:g.15686321C>A	TOPMed,gnomAD
MEOX2	P50222	p.His30Arg	rs976514962	missense variant	-	NC_000007.14:g.15686314T>C	gnomAD
MEOX2	P50222	p.Arg32Ser	rs1436084001	missense variant	-	NC_000007.14:g.15686307T>A	gnomAD
MEOX2	P50222	p.Ser33Phe	rs775325876	missense variant	-	NC_000007.14:g.15686305G>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser33Ala	rs762531573	missense variant	-	NC_000007.14:g.15686306A>C	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser33Pro	rs762531573	missense variant	-	NC_000007.14:g.15686306A>G	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Asp34His	rs1325793804	missense variant	-	NC_000007.14:g.15686303C>G	gnomAD
MEOX2	P50222	p.Asp34Tyr	COSM6176979	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686303C>A	NCI-TCGA Cosmic
MEOX2	P50222	p.His35Arg	rs1445195868	missense variant	-	NC_000007.14:g.15686299T>C	TOPMed,gnomAD
MEOX2	P50222	p.Ser37Phe	rs1177554598	missense variant	-	NC_000007.14:g.15686293G>A	gnomAD
MEOX2	P50222	p.Glu40Ala	rs200846592	missense variant	-	NC_000007.14:g.15686284T>G	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Glu40Gly	rs200846592	missense variant	-	NC_000007.14:g.15686284T>C	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Glu40Asp	rs1171607657	missense variant	-	NC_000007.14:g.15686283C>A	TOPMed,gnomAD
MEOX2	P50222	p.Glu40Lys	rs760039633	missense variant	-	NC_000007.14:g.15686285C>T	ExAC
MEOX2	P50222	p.Leu41Phe	rs771496871	missense variant	-	NC_000007.14:g.15686282G>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser42Pro	rs747422920	missense variant	-	NC_000007.14:g.15686279A>G	ExAC,gnomAD
MEOX2	P50222	p.Ser42Cys	rs1187056682	missense variant	-	NC_000007.14:g.15686278G>C	TOPMed
MEOX2	P50222	p.Thr43Pro	rs907684119	missense variant	-	NC_000007.14:g.15686276T>G	TOPMed,gnomAD
MEOX2	P50222	p.Ser45Phe	rs1461002633	missense variant	-	NC_000007.14:g.15686269G>A	TOPMed
MEOX2	P50222	p.Ser46Ter	rs748219682	stop gained	-	NC_000007.14:g.15686266G>T	ExAC,gnomAD
MEOX2	P50222	p.Ser46Pro	rs772083188	missense variant	-	NC_000007.14:g.15686267A>G	ExAC,gnomAD
MEOX2	P50222	p.Ser47Pro	COSM3431430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686264A>G	NCI-TCGA Cosmic
MEOX2	P50222	p.Cys48Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15686260C>T	NCI-TCGA
MEOX2	P50222	p.Ala51Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15686252C>T	NCI-TCGA
MEOX2	P50222	p.Ala51Ser	rs1277698229	missense variant	-	NC_000007.14:g.15686252C>A	TOPMed,gnomAD
MEOX2	P50222	p.Ala51Val	rs1218862332	missense variant	-	NC_000007.14:g.15686251G>A	gnomAD
MEOX2	P50222	p.Gly52Glu	rs1351744848	missense variant	-	NC_000007.14:g.15686248C>T	gnomAD
MEOX2	P50222	p.Gly52Arg	rs200609553	missense variant	-	NC_000007.14:g.15686249C>G	1000Genomes
MEOX2	P50222	p.Pro54His	rs755133987	missense variant	-	NC_000007.14:g.15686242G>T	ExAC,gnomAD
MEOX2	P50222	p.Pro54Arg	COSM3995478	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686242G>C	NCI-TCGA Cosmic
MEOX2	P50222	p.Asn55Lys	rs1376752653	missense variant	-	NC_000007.14:g.15686238G>T	gnomAD
MEOX2	P50222	p.Glu56Lys	COSM136591	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686237C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Gly58Cys	rs138296490	missense variant	-	NC_000007.14:g.15686231C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Met59Leu	rs146346021	missense variant	-	NC_000007.14:g.15686228T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Met59Ile	rs764063745	missense variant	-	NC_000007.14:g.15686226C>T	ExAC,gnomAD
MEOX2	P50222	p.Ala61Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15686221G>T	NCI-TCGA
MEOX2	P50222	p.Ala61Thr	rs991895325	missense variant	-	NC_000007.14:g.15686222C>T	TOPMed,gnomAD
MEOX2	P50222	p.Ala61Val	rs758050775	missense variant	-	NC_000007.14:g.15686221G>A	ExAC,gnomAD
MEOX2	P50222	p.Ser62Asn	rs1156265860	missense variant	-	NC_000007.14:g.15686218C>T	gnomAD
MEOX2	P50222	p.Gly67Arg	rs1385368189	missense variant	-	NC_000007.14:g.15686204C>T	gnomAD
MEOX2	P50222	p.His69Asn	rs138679259	missense variant	-	NC_000007.14:g.15686198G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His70Tyr	rs551036356	missense variant	-	NC_000007.14:g.15686195G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His71Arg	rs529311797	missense variant	-	NC_000007.14:g.15686191T>C	1000Genomes,ExAC,TOPMed
MEOX2	P50222	p.His71Tyr	rs1288457026	missense variant	-	NC_000007.14:g.15686192G>A	gnomAD
MEOX2	P50222	p.His72Leu	rs773658129	missense variant	-	NC_000007.14:g.15686188T>A	ExAC,gnomAD
MEOX2	P50222	p.His72Tyr	rs761067039	missense variant	-	NC_000007.14:g.15686189G>A	ExAC,gnomAD
MEOX2	P50222	p.His73Arg	rs1377644484	missense variant	-	NC_000007.14:g.15686185T>C	gnomAD
MEOX2	P50222	p.His73Tyr	rs1230517479	missense variant	-	NC_000007.14:g.15686186G>A	gnomAD
MEOX2	P50222	p.His74Gln	rs199751527	missense variant	-	NC_000007.14:g.15686181G>C	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His74Arg	rs1283904472	missense variant	-	NC_000007.14:g.15686182T>C	gnomAD
MEOX2	P50222	p.His75Gln	rs903273703	missense variant	-	NC_000007.14:g.15686178G>T	TOPMed,gnomAD
MEOX2	P50222	p.His76Arg	rs761894513	missense variant	-	NC_000007.14:g.15686176T>C	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His77Tyr	rs768897912	missense variant	-	NC_000007.14:g.15686174G>A	ExAC,gnomAD
MEOX2	P50222	p.His79Arg	rs1450504606	missense variant	-	NC_000007.14:g.15686167T>C	gnomAD
MEOX2	P50222	p.His79_His80del	VAR_026040	inframe_deletion	-	-	UniProt
MEOX2	P50222	p.His80del	VAR_026041	inframe_deletion	-	-	UniProt
MEOX2	P50222	p.Gln81His	rs1237651295	missense variant	-	NC_000007.14:g.15686160C>A	TOPMed
MEOX2	P50222	p.Gln83His	rs1412981158	missense variant	-	NC_000007.14:g.15686154C>G	gnomAD
MEOX2	P50222	p.Gln83Pro	rs1421926680	missense variant	-	NC_000007.14:g.15686155T>G	gnomAD
MEOX2	P50222	p.His85Asp	rs370719073	missense variant	-	NC_000007.14:g.15686150G>C	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His85Tyr	rs370719073	missense variant	-	NC_000007.14:g.15686150G>A	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His85Leu	rs746818920	missense variant	-	NC_000007.14:g.15686149T>A	ExAC,gnomAD
MEOX2	P50222	p.Gln86Arg	rs1214719282	missense variant	-	NC_000007.14:g.15686146T>C	gnomAD
MEOX2	P50222	p.Gln86His	rs1488119800	missense variant	-	NC_000007.14:g.15686145C>G	gnomAD
MEOX2	P50222	p.Ala87Val	rs1279307289	missense variant	-	NC_000007.14:g.15686143G>A	TOPMed
MEOX2	P50222	p.Ala87Pro	rs893377581	missense variant	-	NC_000007.14:g.15686144C>G	TOPMed,gnomAD
MEOX2	P50222	p.Ala87Thr	rs893377581	missense variant	-	NC_000007.14:g.15686144C>T	TOPMed,gnomAD
MEOX2	P50222	p.Gln89Glu	rs1320405727	missense variant	-	NC_000007.14:g.15686138G>C	gnomAD
MEOX2	P50222	p.Thr90Ser	rs777632205	missense variant	-	NC_000007.14:g.15686135T>A	ExAC,gnomAD
MEOX2	P50222	p.Thr90Asn	rs1257020276	missense variant	-	NC_000007.14:g.15686134G>T	gnomAD
MEOX2	P50222	p.Asn91Ser	rs758357349	missense variant	-	NC_000007.14:g.15686131T>C	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Asn91Asp	rs906709293	missense variant	-	NC_000007.14:g.15686132T>C	gnomAD
MEOX2	P50222	p.Asn91Lys	rs201748928	missense variant	-	NC_000007.14:g.15686130G>C	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His93Asn	rs1398991087	missense variant	-	NC_000007.14:g.15686126G>T	TOPMed,gnomAD
MEOX2	P50222	p.His93Pro	rs1037275055	missense variant	-	NC_000007.14:g.15686125T>G	gnomAD
MEOX2	P50222	p.His93Tyr	rs1398991087	missense variant	-	NC_000007.14:g.15686126G>A	TOPMed,gnomAD
MEOX2	P50222	p.Leu94Phe	rs1294706286	missense variant	-	NC_000007.14:g.15686123G>A	gnomAD
MEOX2	P50222	p.Pro95Arg	rs141081461	missense variant	-	NC_000007.14:g.15686119G>C	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Pro95Leu	rs141081461	missense variant	-	NC_000007.14:g.15686119G>A	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Gln96Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15686116T>C	NCI-TCGA
MEOX2	P50222	p.Met97Ile	rs1192688588	missense variant	-	NC_000007.14:g.15686112C>T	TOPMed,gnomAD
MEOX2	P50222	p.Met97Leu	rs766049663	missense variant	-	NC_000007.14:g.15686114T>A	ExAC,gnomAD
MEOX2	P50222	p.Met97Arg	rs761000362	missense variant	-	NC_000007.14:g.15686113A>C	ExAC,gnomAD
MEOX2	P50222	p.Ser98Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15686110G>C	NCI-TCGA
MEOX2	P50222	p.Ser99Pro	rs1477582537	missense variant	-	NC_000007.14:g.15686108A>G	gnomAD
MEOX2	P50222	p.Pro100Ala	rs561867178	missense variant	-	NC_000007.14:g.15686105G>C	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Pro100Ser	rs561867178	missense variant	-	NC_000007.14:g.15686105G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser102Ile	rs1264975769	missense variant	-	NC_000007.14:g.15686098C>A	gnomAD
MEOX2	P50222	p.Ala103Thr	rs1205823681	missense variant	-	NC_000007.14:g.15686096C>T	gnomAD
MEOX2	P50222	p.Ala103Val	rs1296527890	missense variant	-	NC_000007.14:g.15686095G>A	gnomAD
MEOX2	P50222	p.Ala104Val	rs1320687241	missense variant	-	NC_000007.14:g.15686092G>A	gnomAD
MEOX2	P50222	p.Arg105Pro	rs1218413777	missense variant	-	NC_000007.14:g.15686089C>G	TOPMed,gnomAD
MEOX2	P50222	p.Arg105Gln	rs1218413777	missense variant	-	NC_000007.14:g.15686089C>T	TOPMed,gnomAD
MEOX2	P50222	p.Arg105Gly	rs373584566	missense variant	-	NC_000007.14:g.15686090G>C	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser107Arg	rs1323751067	missense variant	-	NC_000007.14:g.15686082G>T	TOPMed,gnomAD
MEOX2	P50222	p.Leu108His	rs774437329	missense variant	-	NC_000007.14:g.15686080A>T	ExAC,gnomAD
MEOX2	P50222	p.Gln111His	rs1432528551	missense variant	-	NC_000007.14:g.15686070C>A	gnomAD
MEOX2	P50222	p.Asp113Glu	rs528476147	missense variant	-	NC_000007.14:g.15686064G>T	1000Genomes,ExAC,TOPMed
MEOX2	P50222	p.Asp113Tyr	rs758998673	missense variant	-	NC_000007.14:g.15686066C>A	TOPMed
MEOX2	P50222	p.Asp113Glu	rs528476147	missense variant	-	NC_000007.14:g.15686064G>C	1000Genomes,ExAC,TOPMed
MEOX2	P50222	p.Asp113Asn	COSM1312920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15686066C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Gly116Ala	rs746797445	missense variant	-	NC_000007.14:g.15686056C>G	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Gly116Val	rs746797445	missense variant	-	NC_000007.14:g.15686056C>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Gly116Arg	rs770045601	missense variant	-	NC_000007.14:g.15686057C>T	ExAC,gnomAD
MEOX2	P50222	p.Gly116Trp	rs770045601	missense variant	-	NC_000007.14:g.15686057C>A	ExAC,gnomAD
MEOX2	P50222	p.Pro117His	rs1379205886	missense variant	-	NC_000007.14:g.15686053G>T	gnomAD
MEOX2	P50222	p.Pro117Thr	rs777561137	missense variant	-	NC_000007.14:g.15686054G>T	ExAC
MEOX2	P50222	p.Pro118Ser	rs1178463250	missense variant	-	NC_000007.14:g.15686051G>A	gnomAD
MEOX2	P50222	p.Pro118Gln	rs772153901	missense variant	-	NC_000007.14:g.15686050G>T	ExAC,gnomAD
MEOX2	P50222	p.Pro118GlnPheSerTerUnkUnk	COSM1449680	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15686050G>-	NCI-TCGA Cosmic
MEOX2	P50222	p.Glu119Asp	rs748140998	missense variant	-	NC_000007.14:g.15686046C>A	ExAC,gnomAD
MEOX2	P50222	p.Leu120Val	rs778960612	missense variant	-	NC_000007.14:g.15686045A>C	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Gly121Ala	rs575381387	missense variant	-	NC_000007.14:g.15686041C>G	1000Genomes,ExAC,gnomAD
MEOX2	P50222	p.Gly121Glu	rs575381387	missense variant	-	NC_000007.14:g.15686041C>T	1000Genomes,ExAC,gnomAD
MEOX2	P50222	p.Ser122Arg	rs753373068	missense variant	-	NC_000007.14:g.15686037G>T	ExAC,gnomAD
MEOX2	P50222	p.Ser122Asn	rs1236917450	missense variant	-	NC_000007.14:g.15686038C>T	gnomAD
MEOX2	P50222	p.Pro124Ser	rs1300454099	missense variant	-	NC_000007.14:g.15686033G>A	TOPMed,gnomAD
MEOX2	P50222	p.Pro125Ser	rs1179519048	missense variant	-	NC_000007.14:g.15686030G>A	TOPMed
MEOX2	P50222	p.Val126Leu	rs1258209754	missense variant	-	NC_000007.14:g.15686027C>G	gnomAD
MEOX2	P50222	p.Leu127Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15686023A>G	NCI-TCGA
MEOX2	P50222	p.Cys128Phe	rs940405249	missense variant	-	NC_000007.14:g.15686020C>A	TOPMed
MEOX2	P50222	p.Ser129Cys	rs1230593339	missense variant	-	NC_000007.14:g.15686017G>C	TOPMed,gnomAD
MEOX2	P50222	p.Leu134Phe	rs924464418	missense variant	-	NC_000007.14:g.15686001C>G	TOPMed
MEOX2	P50222	p.Gly135Ser	rs977364770	missense variant	-	NC_000007.14:g.15686000C>T	gnomAD
MEOX2	P50222	p.Gly135Cys	rs977364770	missense variant	-	NC_000007.14:g.15686000C>A	gnomAD
MEOX2	P50222	p.Gly135Val	rs750783408	missense variant	-	NC_000007.14:g.15685999C>A	ExAC,gnomAD
MEOX2	P50222	p.Ser136Cys	rs1330570273	missense variant	-	NC_000007.14:g.15685996G>C	gnomAD
MEOX2	P50222	p.Ser137Gly	rs767821407	missense variant	-	NC_000007.14:g.15685994T>C	ExAC,gnomAD
MEOX2	P50222	p.Ser137Ile	rs1461895507	missense variant	-	NC_000007.14:g.15685993C>A	TOPMed
MEOX2	P50222	p.Thr138Ser	rs762144203	missense variant	-	NC_000007.14:g.15685990G>C	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Thr138Ile	rs762144203	missense variant	-	NC_000007.14:g.15685990G>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Pro139Gln	rs1464677938	missense variant	-	NC_000007.14:g.15685987G>T	TOPMed,gnomAD
MEOX2	P50222	p.Pro139Arg	rs1464677938	missense variant	-	NC_000007.14:g.15685987G>C	TOPMed,gnomAD
MEOX2	P50222	p.Pro139Leu	rs1464677938	missense variant	-	NC_000007.14:g.15685987G>A	TOPMed,gnomAD
MEOX2	P50222	p.Pro139Thr	rs1049360522	missense variant	-	NC_000007.14:g.15685988G>T	TOPMed,gnomAD
MEOX2	P50222	p.Gly141Arg	rs148170403	missense variant	-	NC_000007.14:g.15685982C>T	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Gly141Ala	rs1301715045	missense variant	-	NC_000007.14:g.15685981C>G	TOPMed
MEOX2	P50222	p.Gly141Glu	COSM6176980	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685981C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Ala143Thr	COSM4922340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685976C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Pro146Leu	rs759767365	missense variant	-	NC_000007.14:g.15685966G>A	ExAC,gnomAD
MEOX2	P50222	p.Gly147Glu	rs772029318	missense variant	-	NC_000007.14:g.15685963C>T	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Gly147Val	rs772029318	missense variant	-	NC_000007.14:g.15685963C>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Gly147Ala	rs772029318	missense variant	-	NC_000007.14:g.15685963C>G	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Asp148Asn	rs1260971654	missense variant	-	NC_000007.14:g.15685961C>T	gnomAD
MEOX2	P50222	p.Tyr149Ter	rs376342964	stop gained	-	NC_000007.14:g.15685956G>T	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Tyr149His	rs1446742111	missense variant	-	NC_000007.14:g.15685958A>G	TOPMed,gnomAD
MEOX2	P50222	p.Tyr149Cys	COSM745703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685957T>C	NCI-TCGA Cosmic
MEOX2	P50222	p.Arg151Leu	rs748751582	missense variant	-	NC_000007.14:g.15685951C>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Arg151Ser	rs202079444	missense variant	-	NC_000007.14:g.15685952G>T	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala153Thr	rs1440790938	missense variant	-	NC_000007.14:g.15685946C>T	gnomAD
MEOX2	P50222	p.Ala153Val	rs779577335	missense variant	-	NC_000007.14:g.15685945G>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Leu154Val	rs1428242992	missense variant	-	NC_000007.14:g.15685943G>C	TOPMed
MEOX2	P50222	p.Pro156Thr	rs757688209	missense variant	-	NC_000007.14:g.15685937G>T	ExAC,gnomAD
MEOX2	P50222	p.Pro156Leu	rs751911345	missense variant	-	NC_000007.14:g.15685936G>A	ExAC,gnomAD
MEOX2	P50222	p.Ala157Glu	rs1421793823	missense variant	-	NC_000007.14:g.15685933G>T	TOPMed,gnomAD
MEOX2	P50222	p.Ala157Val	rs1421793823	missense variant	-	NC_000007.14:g.15685933G>A	TOPMed,gnomAD
MEOX2	P50222	p.Glu158Lys	rs201879229	missense variant	-	NC_000007.14:g.15685931C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala159Glu	rs577801614	missense variant	-	NC_000007.14:g.15685927G>T	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Glu160Asp	rs1370737581	missense variant	-	NC_000007.14:g.15685923C>G	gnomAD
MEOX2	P50222	p.Arg162Gln	COSM3305973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685918C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Ser163Ile	rs765404239	missense variant	-	NC_000007.14:g.15685915C>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser163Asn	rs765404239	missense variant	-	NC_000007.14:g.15685915C>T	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser163Arg	COSM3879834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15685914G>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Gly164Ser	rs141784602	missense variant	-	NC_000007.14:g.15685913C>T	ESP
MEOX2	P50222	p.Gly165Cys	rs373439702	missense variant	-	NC_000007.14:g.15685910C>A	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Gly165Ser	rs373439702	missense variant	-	NC_000007.14:g.15685910C>T	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Lys166Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15685905C>G	NCI-TCGA
MEOX2	P50222	p.Lys166Glu	rs1297638941	missense variant	-	NC_000007.14:g.15685907T>C	TOPMed
MEOX2	P50222	p.Lys168Glu	rs906697453	missense variant	-	NC_000007.14:g.15685901T>C	TOPMed
MEOX2	P50222	p.Asp170Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15685895C>T	NCI-TCGA
MEOX2	P50222	p.Asp170Tyr	rs1338195952	missense variant	-	NC_000007.14:g.15685895C>A	TOPMed,gnomAD
MEOX2	P50222	p.Ser172Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.15685888G>C	NCI-TCGA
MEOX2	P50222	p.Asp173Glu	rs1202879133	missense variant	-	NC_000007.14:g.15626917G>C	TOPMed,gnomAD
MEOX2	P50222	p.Ser174Thr	rs776056051	missense variant	-	NC_000007.14:g.15626916A>T	ExAC
MEOX2	P50222	p.Ser174Phe	rs1172769653	missense variant	-	NC_000007.14:g.15626915G>A	gnomAD
MEOX2	P50222	p.Gln175His	rs746619188	missense variant	-	NC_000007.14:g.15626911C>A	ExAC,gnomAD
MEOX2	P50222	p.Gln175Arg	rs770604890	missense variant	-	NC_000007.14:g.15626912T>C	ExAC,gnomAD
MEOX2	P50222	p.Gln175His	rs746619188	missense variant	-	NC_000007.14:g.15626911C>A	NCI-TCGA,NCI-TCGA Cosmic
MEOX2	P50222	p.Gln175Leu	COSM1449650	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15626912T>A	NCI-TCGA Cosmic
MEOX2	P50222	p.Gln175Ter	COSM3778277	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15626913G>A	NCI-TCGA Cosmic
MEOX2	P50222	p.Gly177Glu	rs867233014	missense variant	-	NC_000007.14:g.15626906C>T	-
MEOX2	P50222	p.Gly177Glu	rs867233014	missense variant	-	NC_000007.14:g.15626906C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Asn178His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15626904T>G	NCI-TCGA
MEOX2	P50222	p.Asn178Lys	rs777256420	missense variant	-	NC_000007.14:g.15626902A>C	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser181Ala	rs1208884092	missense variant	-	NC_000007.14:g.15626895A>C	gnomAD
MEOX2	P50222	p.Glu182Val	rs371557289	missense variant	-	NC_000007.14:g.15626891T>A	ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Val183Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15626888A>T	NCI-TCGA
MEOX2	P50222	p.Val183Leu	rs779485604	missense variant	-	NC_000007.14:g.15626889C>G	ExAC,gnomAD
MEOX2	P50222	p.Val183Ala	rs1457132453	missense variant	-	NC_000007.14:g.15626888A>G	gnomAD
MEOX2	P50222	p.Asn184Asp	rs569517497	missense variant	-	NC_000007.14:g.15626886T>C	gnomAD
MEOX2	P50222	p.Lys186Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15626878T>A	NCI-TCGA
MEOX2	P50222	p.Pro187Ser	rs755468003	missense variant	-	NC_000007.14:g.15626877G>A	ExAC,gnomAD
MEOX2	P50222	p.Arg191Lys	COSM452787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15626864C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Glu197Ter	COSM3431419	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15626847C>A	NCI-TCGA Cosmic
MEOX2	P50222	p.Arg200Thr	rs1415758190	missense variant	-	NC_000007.14:g.15626837C>G	gnomAD
MEOX2	P50222	p.Glu201Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15626833T>G	NCI-TCGA
MEOX2	P50222	p.Glu201Gln	rs1422660119	missense variant	-	NC_000007.14:g.15626835C>G	gnomAD
MEOX2	P50222	p.Glu201Ter	COSM1087892	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15626835C>A	NCI-TCGA Cosmic
MEOX2	P50222	p.Leu202Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15626831A>G	NCI-TCGA
MEOX2	P50222	p.Glu203Lys	rs1171435810	missense variant	-	NC_000007.14:g.15626829C>T	gnomAD
MEOX2	P50222	p.Ala204Val	rs375199918	missense variant	-	NC_000007.14:g.15626825G>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Glu205Lys	rs1381670709	missense variant	-	NC_000007.14:g.15626823C>T	gnomAD
MEOX2	P50222	p.Ala207Ser	rs1176701460	missense variant	-	NC_000007.14:g.15626817C>A	gnomAD
MEOX2	P50222	p.Ala207Val	rs762865770	missense variant	-	NC_000007.14:g.15626816G>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His208Tyr	rs765228491	missense variant	-	NC_000007.14:g.15626814G>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.His208Pro	rs1444300032	missense variant	-	NC_000007.14:g.15626813T>G	gnomAD
MEOX2	P50222	p.Asn210Ser	rs1404029442	missense variant	-	NC_000007.14:g.15626807T>C	TOPMed
MEOX2	P50222	p.Arg216Ser	rs574755420	missense variant	-	NC_000007.14:g.15626788C>A	1000Genomes,ExAC,gnomAD
MEOX2	P50222	p.Arg216Lys	rs1337968469	missense variant	-	NC_000007.14:g.15626789C>T	TOPMed
MEOX2	P50222	p.Arg217Gln	rs760169461	missense variant	-	NC_000007.14:g.15626786C>T	ExAC,gnomAD
MEOX2	P50222	p.Tyr218Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.15626782G>C	NCI-TCGA
MEOX2	P50222	p.Glu219Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.15626781C>A	NCI-TCGA
MEOX2	P50222	p.Glu219Asp	rs1237411895	missense variant	-	NC_000007.14:g.15626779C>G	TOPMed
MEOX2	P50222	p.Glu219Lys	COSM3636734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15626781C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Glu219Asp	rs1237411895	missense variant	-	NC_000007.14:g.15626779C>G	NCI-TCGA
MEOX2	P50222	p.Ala221Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15626775C>T	NCI-TCGA
MEOX2	P50222	p.Asn223Lys	rs1357838190	missense variant	-	NC_000007.14:g.15626767A>C	gnomAD
MEOX2	P50222	p.Leu226Val	rs1228439600	missense variant	-	NC_000007.14:g.15626760G>C	gnomAD
MEOX2	P50222	p.Phe235Cys	COSM3636727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612598A>C	NCI-TCGA Cosmic
MEOX2	P50222	p.Gln236Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612595T>A	NCI-TCGA
MEOX2	P50222	p.Asn237Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612592T>C	NCI-TCGA
MEOX2	P50222	p.Arg239Gln	rs1320459432	missense variant	-	NC_000007.14:g.15612586C>T	gnomAD
MEOX2	P50222	p.Met240Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612582C>A	NCI-TCGA
MEOX2	P50222	p.Arg244Thr	rs770357034	missense variant	-	NC_000007.14:g.15612571C>G	ExAC,gnomAD
MEOX2	P50222	p.Arg244Met	COSM745721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612571C>A	NCI-TCGA Cosmic
MEOX2	P50222	p.Val245Glu	rs745972052	missense variant	-	NC_000007.14:g.15612568A>T	ExAC,gnomAD
MEOX2	P50222	p.Lys246Met	rs781080966	missense variant	-	NC_000007.14:g.15612565T>A	ExAC
MEOX2	P50222	p.Lys246Asn	rs1364657336	missense variant	-	NC_000007.14:g.15612564C>A	TOPMed
MEOX2	P50222	p.Gly247Asp	rs757528173	missense variant	-	NC_000007.14:g.15612562C>T	ExAC,gnomAD
MEOX2	P50222	p.Gly247Cys	rs180977090	missense variant	-	NC_000007.14:g.15612563C>A	1000Genomes,TOPMed,gnomAD
MEOX2	P50222	p.Gly247Ser	rs180977090	missense variant	-	NC_000007.14:g.15612563C>T	1000Genomes,TOPMed,gnomAD
MEOX2	P50222	p.Gly247Ser	rs180977090	missense variant	-	NC_000007.14:g.15612563C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Gln249Arg	rs747232554	missense variant	-	NC_000007.14:g.15612556T>C	ExAC,gnomAD
MEOX2	P50222	p.Gln250Arg	rs1434135679	missense variant	-	NC_000007.14:g.15612553T>C	gnomAD
MEOX2	P50222	p.Gly251Glu	rs1170929765	missense variant	-	NC_000007.14:g.15612550C>T	TOPMed
MEOX2	P50222	p.Ala252Val	rs545741824	missense variant	-	NC_000007.14:g.15612547G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala253Gly	rs766320553	missense variant	-	NC_000007.14:g.15612544G>C	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala253Glu	rs766320553	missense variant	-	NC_000007.14:g.15612544G>T	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala253Val	rs766320553	missense variant	-	NC_000007.14:g.15612544G>A	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala253Val	rs766320553	missense variant	-	NC_000007.14:g.15612544G>A	NCI-TCGA
MEOX2	P50222	p.Ala254Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612542C>T	NCI-TCGA
MEOX2	P50222	p.Ala254Pro	rs749981181	missense variant	-	NC_000007.14:g.15612542C>G	ExAC,gnomAD
MEOX2	P50222	p.Ala254Val	rs1168791518	missense variant	-	NC_000007.14:g.15612541G>A	TOPMed,gnomAD
MEOX2	P50222	p.Arg255Trp	rs868107417	missense variant	-	NC_000007.14:g.15612539G>A	-
MEOX2	P50222	p.Arg255Pro	rs766976920	missense variant	-	NC_000007.14:g.15612538C>G	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Arg255Trp	rs868107417	missense variant	-	NC_000007.14:g.15612539G>A	NCI-TCGA Cosmic
MEOX2	P50222	p.Glu256Lys	COSM3636724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612536C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Lys257Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612531C>G	NCI-TCGA
MEOX2	P50222	p.Lys257Glu	rs1017579866	missense variant	-	NC_000007.14:g.15612533T>C	TOPMed
MEOX2	P50222	p.Glu258Gln	rs1425893870	missense variant	-	NC_000007.14:g.15612530C>G	gnomAD
MEOX2	P50222	p.Glu258Lys	COSM3636723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612530C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Leu259Met	rs1193001492	missense variant	-	NC_000007.14:g.15612527G>T	gnomAD
MEOX2	P50222	p.Asn261Lys	rs1025681387	missense variant	-	NC_000007.14:g.15612519A>C	TOPMed
MEOX2	P50222	p.Val262Glu	rs1269600571	missense variant	-	NC_000007.14:g.15612517A>T	TOPMed,gnomAD
MEOX2	P50222	p.Lys263Glu	rs1208906945	missense variant	-	NC_000007.14:g.15612515T>C	gnomAD
MEOX2	P50222	p.Lys264Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612511T>G	NCI-TCGA
MEOX2	P50222	p.Gly265Arg	rs1199873948	missense variant	-	NC_000007.14:g.15612509C>G	gnomAD
MEOX2	P50222	p.Gly265Glu	COSM452784	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612508C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Pro269Leu	rs761365312	missense variant	-	NC_000007.14:g.15612496G>A	ExAC,gnomAD
MEOX2	P50222	p.Pro269Ala	rs1230563691	missense variant	-	NC_000007.14:g.15612497G>C	TOPMed
MEOX2	P50222	p.Ser270Ter	COSM1312912	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.15612493G>C	NCI-TCGA Cosmic
MEOX2	P50222	p.Glu271Asp	rs773932247	missense variant	-	NC_000007.14:g.15612489C>G	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ser273Leu	COSM4164228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612484G>A	NCI-TCGA Cosmic
MEOX2	P50222	p.Gly274Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612482C>G	NCI-TCGA
MEOX2	P50222	p.Ile275Thr	rs763413946	missense variant	-	NC_000007.14:g.15612478A>G	ExAC,gnomAD
MEOX2	P50222	p.Ala277Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612473C>A	NCI-TCGA
MEOX2	P50222	p.Ala278Thr	rs559883085	missense variant	-	NC_000007.14:g.15612470C>T	gnomAD
MEOX2	P50222	p.Thr279Ile	COSM3832410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612466G>A	NCI-TCGA Cosmic
MEOX2	P50222	p.Leu280His	rs770444784	missense variant	-	NC_000007.14:g.15612463A>T	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Gln282Glu	rs760797306	missense variant	-	NC_000007.14:g.15612458G>C	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Thr283Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612455T>C	NCI-TCGA
MEOX2	P50222	p.Gly284Glu	COSM6109446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612451C>T	NCI-TCGA Cosmic
MEOX2	P50222	p.Asp285Glu	rs1360003634	missense variant	-	NC_000007.14:g.15612447G>C	TOPMed,gnomAD
MEOX2	P50222	p.Asp285Val	rs372193299	missense variant	-	NC_000007.14:g.15612448T>A	ESP,ExAC,gnomAD
MEOX2	P50222	p.Ser286Cys	rs747111834	missense variant	-	NC_000007.14:g.15612445G>C	ExAC,gnomAD
MEOX2	P50222	p.Ile287Thr	rs556698927	missense variant	-	NC_000007.14:g.15612442A>G	1000Genomes,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ile287Val	rs2237493	missense variant	-	NC_000007.14:g.15612443T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ile287Leu	rs2237493	missense variant	-	NC_000007.14:g.15612443T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ile287Leu	rs2237493	missense variant	-	NC_000007.14:g.15612443T>G	UniProt,dbSNP
MEOX2	P50222	p.Ile287Leu	VAR_049585	missense variant	-	NC_000007.14:g.15612443T>G	UniProt
MEOX2	P50222	p.Ala288Thr	rs779787403	missense variant	-	NC_000007.14:g.15612440C>T	ExAC,TOPMed,gnomAD
MEOX2	P50222	p.Ala288Val	rs755907175	missense variant	-	NC_000007.14:g.15612439G>A	ExAC
MEOX2	P50222	p.Asn289Asp	rs1442146315	missense variant	-	NC_000007.14:g.15612437T>C	TOPMed,gnomAD
MEOX2	P50222	p.Asn289Thr	rs1299134267	missense variant	-	NC_000007.14:g.15612436T>G	TOPMed
MEOX2	P50222	p.Asp291Glu	rs1384731038	missense variant	-	NC_000007.14:g.15612429G>C	TOPMed
MEOX2	P50222	p.Asp291Asn	rs542023498	missense variant	-	NC_000007.14:g.15612431C>T	1000Genomes,ExAC,gnomAD
MEOX2	P50222	p.Ser292Thr	rs781176015	missense variant	-	NC_000007.14:g.15612427C>G	ExAC
MEOX2	P50222	p.His293Arg	rs1302872970	missense variant	-	NC_000007.14:g.15612424T>C	TOPMed
MEOX2	P50222	p.Asp294Asn	rs1257373079	missense variant	-	NC_000007.14:g.15612422C>T	TOPMed,gnomAD
MEOX2	P50222	p.Asp294His	rs1257373079	missense variant	-	NC_000007.14:g.15612422C>G	TOPMed,gnomAD
MEOX2	P50222	p.Asp296Asn	rs751045886	missense variant	-	NC_000007.14:g.15612416C>T	ExAC,gnomAD
MEOX2	P50222	p.Ser298Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.15612409C>A	NCI-TCGA
MEOX2	P50222	p.Ser298Asn	rs762643578	missense variant	-	NC_000007.14:g.15612409C>T	ExAC,gnomAD
MEOX2	P50222	p.Ser298Gly	rs763851326	missense variant	-	NC_000007.14:g.15612410T>C	ExAC,gnomAD
MEOX2	P50222	p.Glu300Asp	rs1305980870	missense variant	-	NC_000007.14:g.15612402C>A	gnomAD
MEOX2	P50222	p.Ala302Glu	rs1381131517	missense variant	-	NC_000007.14:g.15612397G>T	TOPMed,gnomAD
MEOX2	P50222	p.Ala302Gly	rs1381131517	missense variant	-	NC_000007.14:g.15612397G>C	TOPMed,gnomAD
MEOX2	P50222	p.Ala302Ser	COSM6176994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612398C>A	NCI-TCGA Cosmic
MEOX2	P50222	p.His303Tyr	COSM1312911	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.15612395G>A	NCI-TCGA Cosmic
MEOX2	P50222	p.Ter305Arg	rs1433164382	stop lost	-	NC_000007.14:g.15612389A>G	TOPMed,gnomAD
MMP14	P50281	p.Ser2Tyr	COSM282830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22836822C>A	NCI-TCGA Cosmic
MMP14	P50281	p.Pro3Leu	rs547719073	missense variant	-	NC_000014.9:g.22836825C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Pro3Ala	rs1200274982	missense variant	-	NC_000014.9:g.22836824C>G	TOPMed
MMP14	P50281	p.Ala4Thr	rs17882219	missense variant	-	NC_000014.9:g.22836827G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala4Val	rs764392441	missense variant	-	NC_000014.9:g.22836828C>T	ExAC,gnomAD
MMP14	P50281	p.Pro5Arg	rs200576896	missense variant	-	NC_000014.9:g.22836831C>G	1000Genomes
MMP14	P50281	p.Arg6Lys	rs17884647	missense variant	-	NC_000014.9:g.22836834G>A	-
MMP14	P50281	p.Pro7Leu	rs1301121246	missense variant	-	NC_000014.9:g.22836837C>T	gnomAD
MMP14	P50281	p.Pro8Thr	rs1042703	missense variant	-	NC_000014.9:g.22836839C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Pro8Ser	rs1042703	missense variant	-	NC_000014.9:g.22836839C>T	UniProt,dbSNP
MMP14	P50281	p.Pro8Ser	VAR_021031	missense variant	-	NC_000014.9:g.22836839C>T	UniProt
MMP14	P50281	p.Pro8Ser	rs1042703	missense variant	-	NC_000014.9:g.22836839C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg9ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.22836836C>-	NCI-TCGA
MMP14	P50281	p.Cys10Gly	rs1253297091	missense variant	-	NC_000014.9:g.22836845T>G	gnomAD
MMP14	P50281	p.Cys10Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22836845T>C	NCI-TCGA
MMP14	P50281	p.Leu11Ile	rs1337771342	missense variant	-	NC_000014.9:g.22836848C>A	gnomAD
MMP14	P50281	p.Pro14Ser	rs750574703	missense variant	-	NC_000014.9:g.22836857C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Thr17Arg	rs587777039	missense variant	-	NC_000014.9:g.22836867C>G	-
MMP14	P50281	p.Thr17Arg	rs587777039	missense variant	Winchester syndrome (WNCHRS)	NC_000014.9:g.22836867C>G	UniProt,dbSNP
MMP14	P50281	p.Thr17Arg	VAR_070567	missense variant	Winchester syndrome (WNCHRS)	NC_000014.9:g.22836867C>G	UniProt
MMP14	P50281	p.Thr17Arg	RCV000055657	missense variant	Winchester syndrome (WNCHRS)	NC_000014.9:g.22836867C>G	ClinVar
MMP14	P50281	p.Leu18Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22836869C>T	NCI-TCGA
MMP14	P50281	p.Ala21Val	rs927591335	missense variant	-	NC_000014.9:g.22836879C>T	TOPMed
MMP14	P50281	p.Ala21Thr	rs780367986	missense variant	-	NC_000014.9:g.22836878G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala21Ser	rs780367986	missense variant	-	NC_000014.9:g.22836878G>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Leu22Phe	rs779979676	missense variant	-	NC_000014.9:g.22836881C>T	TOPMed
MMP14	P50281	p.Leu25Val	rs749088113	missense variant	-	NC_000014.9:g.22836890C>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Leu25Phe	rs749088113	missense variant	-	NC_000014.9:g.22836890C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly26Val	rs1394631840	missense variant	-	NC_000014.9:g.22836894G>T	gnomAD
MMP14	P50281	p.Ala28Thr	rs770957406	missense variant	-	NC_000014.9:g.22836899G>A	ExAC,gnomAD
MMP14	P50281	p.Gln29Leu	rs759123112	missense variant	-	NC_000014.9:g.22836903A>T	ExAC,gnomAD
MMP14	P50281	p.Gln29Glu	rs774130141	missense variant	-	NC_000014.9:g.22836902C>G	ExAC,gnomAD
MMP14	P50281	p.Ser31Cys	rs982803572	missense variant	-	NC_000014.9:g.22836908A>T	TOPMed,gnomAD
MMP14	P50281	p.Ser32Thr	rs1218291916	missense variant	-	NC_000014.9:g.22836912G>C	gnomAD
MMP14	P50281	p.Glu36Lys	rs148673967	missense variant	-	NC_000014.9:g.22836923G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala37Pro	rs139288377	missense variant	-	NC_000014.9:g.22841491G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly43Asp	rs1158551782	missense variant	-	NC_000014.9:g.22841510G>A	gnomAD
MMP14	P50281	p.Tyr44Ter	rs200689092	stop gained	-	NC_000014.9:g.22841514C>A	ExAC,gnomAD
MMP14	P50281	p.Leu45Pro	rs1467854019	missense variant	-	NC_000014.9:g.22841516T>C	gnomAD
MMP14	P50281	p.Pro46Ser	rs200095510	missense variant	-	NC_000014.9:g.22841518C>T	1000Genomes,ExAC,gnomAD
MMP14	P50281	p.Gly48Trp	rs780006498	missense variant	-	NC_000014.9:g.22841524G>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly48Glu	rs1378443349	missense variant	-	NC_000014.9:g.22841525G>A	gnomAD
MMP14	P50281	p.Gly48Arg	rs780006498	missense variant	-	NC_000014.9:g.22841524G>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly48Arg	rs780006498	missense variant	-	NC_000014.9:g.22841524G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asp49His	rs1447695194	missense variant	-	NC_000014.9:g.22841527G>C	TOPMed
MMP14	P50281	p.Arg51His	rs890078571	missense variant	-	NC_000014.9:g.22841534G>A	TOPMed,gnomAD
MMP14	P50281	p.Arg51Cys	rs780626365	missense variant	-	NC_000014.9:g.22841533C>T	ExAC,gnomAD
MMP14	P50281	p.Thr52Ile	rs1254492935	missense variant	-	NC_000014.9:g.22841537C>T	gnomAD
MMP14	P50281	p.Arg56Cys	rs1456467056	missense variant	-	NC_000014.9:g.22841548C>T	TOPMed,gnomAD
MMP14	P50281	p.Arg56His	rs772894872	missense variant	-	NC_000014.9:g.22841549G>A	ExAC,gnomAD
MMP14	P50281	p.Ser57Leu	rs1254107907	missense variant	-	NC_000014.9:g.22841552C>T	gnomAD
MMP14	P50281	p.Pro58Ser	rs1258084767	missense variant	-	NC_000014.9:g.22841554C>T	TOPMed
MMP14	P50281	p.Ser62Leu	rs139231227	missense variant	-	NC_000014.9:g.22841567C>T	ESP,ExAC,gnomAD
MMP14	P50281	p.Ala63Val	rs554056813	missense variant	-	NC_000014.9:g.22841570C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala64Val	rs1401887689	missense variant	-	NC_000014.9:g.22841573C>T	gnomAD
MMP14	P50281	p.Ile65Val	rs1308214782	missense variant	-	NC_000014.9:g.22841575A>G	TOPMed
MMP14	P50281	p.Ala66Thr	rs775499277	missense variant	-	NC_000014.9:g.22841578G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala66Gly	rs375707032	missense variant	-	NC_000014.9:g.22841579C>G	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala67Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22841582C>T	NCI-TCGA
MMP14	P50281	p.Gln69His	COSM469804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22841589G>T	NCI-TCGA Cosmic
MMP14	P50281	p.Tyr72Cys	rs762770552	missense variant	-	NC_000014.9:g.22841597A>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly73Ser	rs145350786	missense variant	-	NC_000014.9:g.22841599G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Leu74Phe	rs895159803	missense variant	-	NC_000014.9:g.22841604G>T	gnomAD
MMP14	P50281	p.Val76Ile	rs754846455	missense variant	-	NC_000014.9:g.22841608G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly78Asp	rs781106668	missense variant	-	NC_000014.9:g.22841615G>A	ExAC,gnomAD
MMP14	P50281	p.Ala80Val	rs752209666	missense variant	-	NC_000014.9:g.22841621C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala80Ser	rs971426762	missense variant	-	NC_000014.9:g.22841620G>T	gnomAD
MMP14	P50281	p.Ala80Gly	rs752209666	missense variant	-	NC_000014.9:g.22841621C>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala80Thr	rs971426762	missense variant	-	NC_000014.9:g.22841620G>A	gnomAD
MMP14	P50281	p.Ala82Gly	rs772653852	missense variant	-	NC_000014.9:g.22841627C>G	TOPMed
MMP14	P50281	p.Ala82Ser	rs777317862	missense variant	-	NC_000014.9:g.22841626G>T	ExAC,gnomAD
MMP14	P50281	p.Ala87ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.22841913_22841923GGCCATGAGGC>-	NCI-TCGA
MMP14	P50281	p.Met88Thr	rs1317328829	missense variant	-	NC_000014.9:g.22841918T>C	TOPMed,gnomAD
MMP14	P50281	p.Arg89Met	rs1261475157	missense variant	-	NC_000014.9:g.22841921G>T	gnomAD
MMP14	P50281	p.Arg89Gly	rs373247395	missense variant	-	NC_000014.9:g.22841920A>G	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg90His	rs778695115	missense variant	-	NC_000014.9:g.22841924G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg92Ter	rs1192457800	stop gained	-	NC_000014.9:g.22841929C>T	gnomAD
MMP14	P50281	p.Cys93Tyr	rs1253266751	missense variant	-	NC_000014.9:g.22841933G>A	gnomAD
MMP14	P50281	p.Lys98Asn	rs772534496	missense variant	-	NC_000014.9:g.22841949G>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly100Ala	rs780457340	missense variant	-	NC_000014.9:g.22841954G>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu102Lys	rs1420223822	missense variant	-	NC_000014.9:g.22841959G>A	gnomAD
MMP14	P50281	p.Lys104Asn	rs768632889	missense variant	-	NC_000014.9:g.22841967G>C	ExAC,gnomAD
MMP14	P50281	p.Ala105Thr	rs776709320	missense variant	-	NC_000014.9:g.22841968G>A	ExAC,gnomAD
MMP14	P50281	p.Ala105Val	rs761880013	missense variant	-	NC_000014.9:g.22841969C>T	ExAC,gnomAD
MMP14	P50281	p.Asn106Ser	rs1381462096	missense variant	-	NC_000014.9:g.22841972A>G	gnomAD
MMP14	P50281	p.Arg109Lys	rs773405446	missense variant	-	NC_000014.9:g.22841981G>A	ExAC,gnomAD
MMP14	P50281	p.Arg111His	rs1284390443	missense variant	-	NC_000014.9:g.22841987G>A	gnomAD
MMP14	P50281	p.Arg111Cys	rs759353850	missense variant	-	NC_000014.9:g.22841986C>T	ExAC,gnomAD
MMP14	P50281	p.Tyr112Asp	rs767289272	missense variant	-	NC_000014.9:g.22841989T>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala113Thr	rs140660438	missense variant	-	NC_000014.9:g.22841992G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ile114Phe	rs1172082260	missense variant	-	NC_000014.9:g.22841995A>T	TOPMed
MMP14	P50281	p.Leu117Ile	rs1034441205	missense variant	-	NC_000014.9:g.22842004C>A	TOPMed,gnomAD
MMP14	P50281	p.His121Arg	rs1254849829	missense variant	-	NC_000014.9:g.22842017A>G	gnomAD
MMP14	P50281	p.Asn122Asp	rs763931970	missense variant	-	NC_000014.9:g.22842019A>G	ExAC,gnomAD
MMP14	P50281	p.Asn122His	COSM954529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842019A>C	NCI-TCGA Cosmic
MMP14	P50281	p.Ile128Met	COSM1477452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842413C>G	NCI-TCGA Cosmic
MMP14	P50281	p.Asn130Ser	rs1195235014	missense variant	-	NC_000014.9:g.22842418A>G	TOPMed
MMP14	P50281	p.Asn130Asp	rs1244915738	missense variant	-	NC_000014.9:g.22842417A>G	TOPMed
MMP14	P50281	p.Thr132Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22842423A>T	NCI-TCGA
MMP14	P50281	p.Thr132Ser	rs764140468	missense variant	-	NC_000014.9:g.22842424C>G	ExAC,gnomAD
MMP14	P50281	p.Pro133Leu	rs1401166926	missense variant	-	NC_000014.9:g.22842427C>T	gnomAD
MMP14	P50281	p.Gly136Asp	rs202028793	missense variant	-	NC_000014.9:g.22842436G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu137Lys	rs764791818	missense variant	-	NC_000014.9:g.22842438G>A	ExAC,gnomAD
MMP14	P50281	p.Thr140Pro	rs1297447716	missense variant	-	NC_000014.9:g.22842447A>C	gnomAD
MMP14	P50281	p.Glu142Lys	rs373465627	missense variant	-	NC_000014.9:g.22842453G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu142Gln	rs373465627	missense variant	-	NC_000014.9:g.22842453G>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala143Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22842457C>G	NCI-TCGA
MMP14	P50281	p.Ile144Thr	rs576108343	missense variant	-	NC_000014.9:g.22842460T>C	1000Genomes,ExAC,gnomAD
MMP14	P50281	p.Arg145Ser	rs1030601511	missense variant	-	NC_000014.9:g.22842462C>A	gnomAD
MMP14	P50281	p.Arg145Leu	rs954541590	missense variant	-	NC_000014.9:g.22842463G>T	TOPMed,gnomAD
MMP14	P50281	p.Arg145Cys	rs1030601511	missense variant	-	NC_000014.9:g.22842462C>T	gnomAD
MMP14	P50281	p.Arg145His	rs954541590	missense variant	-	NC_000014.9:g.22842463G>A	TOPMed,gnomAD
MMP14	P50281	p.Ala147Val	rs544049459	missense variant	-	NC_000014.9:g.22842469C>T	1000Genomes,ExAC,gnomAD
MMP14	P50281	p.Arg149Cys	rs748601843	missense variant	-	NC_000014.9:g.22842474C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg149His	rs768334466	missense variant	-	NC_000014.9:g.22842475G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Val150Met	rs189387225	missense variant	-	NC_000014.9:g.22842477G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu152Lys	rs774412477	missense variant	-	NC_000014.9:g.22842483G>A	ExAC,gnomAD
MMP14	P50281	p.Arg158His	rs768295586	missense variant	-	NC_000014.9:g.22842502G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg158Cys	rs142628539	missense variant	-	NC_000014.9:g.22842501C>T	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Phe159Val	rs776733080	missense variant	-	NC_000014.9:g.22842504T>G	ExAC,gnomAD
MMP14	P50281	p.Arg160Cys	rs761785718	missense variant	-	NC_000014.9:g.22842507C>T	ExAC,gnomAD
MMP14	P50281	p.Arg160His	rs769434703	missense variant	-	NC_000014.9:g.22842508G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu161Lys	rs762359516	missense variant	-	NC_000014.9:g.22842510G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala165Val	rs144960921	missense variant	-	NC_000014.9:g.22842523C>T	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala165Asp	rs144960921	missense variant	-	NC_000014.9:g.22842523C>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg168His	rs192698502	missense variant	-	NC_000014.9:g.22842532G>A	1000Genomes,TOPMed,gnomAD
MMP14	P50281	p.Arg168Cys	rs759963384	missense variant	-	NC_000014.9:g.22842531C>T	ExAC,gnomAD
MMP14	P50281	p.Glu169Lys	rs1276557075	missense variant	-	NC_000014.9:g.22842534G>A	TOPMed
MMP14	P50281	p.His171Arg	rs753203880	missense variant	-	NC_000014.9:g.22842541A>G	ExAC,gnomAD
MMP14	P50281	p.Glu172Lys	rs756678996	missense variant	-	NC_000014.9:g.22842543G>A	ExAC,gnomAD
MMP14	P50281	p.Glu172Gln	COSM6075578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842543G>C	NCI-TCGA Cosmic
MMP14	P50281	p.Gln174Glu	rs1047287901	missense variant	-	NC_000014.9:g.22842549C>G	TOPMed
MMP14	P50281	p.Ala175Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22842553C>T	NCI-TCGA
MMP14	P50281	p.Asp176Val	rs1485216160	missense variant	-	NC_000014.9:g.22842556A>T	gnomAD
MMP14	P50281	p.Asp176Asn	rs145801508	missense variant	-	NC_000014.9:g.22842555G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Met178Ile	rs1191735486	missense variant	-	NC_000014.9:g.22842563G>A	gnomAD
MMP14	P50281	p.Met178Val	rs1489419661	missense variant	-	NC_000014.9:g.22842561A>G	gnomAD
MMP14	P50281	p.Phe180Leu	rs1423046246	missense variant	-	NC_000014.9:g.22842569C>A	gnomAD
MMP14	P50281	p.Ala182Val	COSM4049906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842574C>T	NCI-TCGA Cosmic
MMP14	P50281	p.Glu183Lys	rs757252435	missense variant	-	NC_000014.9:g.22842576G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu183Gly	rs1381793688	missense variant	-	NC_000014.9:g.22842577A>G	TOPMed
MMP14	P50281	p.Gly184Arg	rs779226971	missense variant	-	NC_000014.9:g.22842579G>C	ExAC,gnomAD
MMP14	P50281	p.His186Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22842587T>A	NCI-TCGA
MMP14	P50281	p.Asp188Asn	rs1362822672	missense variant	-	NC_000014.9:g.22842591G>A	gnomAD
MMP14	P50281	p.Thr190Met	rs1401507378	missense variant	-	NC_000014.9:g.22842598C>T	TOPMed,gnomAD
MMP14	P50281	p.Gly196Ser	rs1448053873	missense variant	-	NC_000014.9:g.22842615G>A	gnomAD
MMP14	P50281	p.Gly197Cys	rs1354231014	missense variant	-	NC_000014.9:g.22842618G>T	TOPMed,gnomAD
MMP14	P50281	p.Gly197Ser	rs1354231014	missense variant	-	NC_000014.9:g.22842618G>A	TOPMed,gnomAD
MMP14	P50281	p.Leu199Pro	rs1168437251	missense variant	-	NC_000014.9:g.22842625T>C	TOPMed
MMP14	P50281	p.Phe204Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22842639T>A	NCI-TCGA
MMP14	P50281	p.Gly206Cys	COSM697504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842645G>T	NCI-TCGA Cosmic
MMP14	P50281	p.Asn208Ser	rs762568699	missense variant	-	NC_000014.9:g.22842652A>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ile209Val	rs559917438	missense variant	-	NC_000014.9:g.22842654A>G	1000Genomes
MMP14	P50281	p.Ile209Thr	rs770311145	missense variant	-	NC_000014.9:g.22842655T>C	ExAC,gnomAD
MMP14	P50281	p.Thr213Asn	rs1443078179	missense variant	-	NC_000014.9:g.22842667C>A	gnomAD
MMP14	P50281	p.His214Gln	rs759039982	missense variant	-	NC_000014.9:g.22842671C>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.His214Tyr	rs774062344	missense variant	-	NC_000014.9:g.22842669C>T	ExAC,gnomAD
MMP14	P50281	p.Phe215Tyr	rs1444614149	missense variant	-	NC_000014.9:g.22842673T>A	gnomAD
MMP14	P50281	p.Pro220Ala	rs764623811	missense variant	-	NC_000014.9:g.22842687C>G	ExAC,gnomAD
MMP14	P50281	p.Pro220Thr	rs764623811	missense variant	-	NC_000014.9:g.22842687C>A	ExAC,gnomAD
MMP14	P50281	p.Thr222Ala	rs377219142	missense variant	-	NC_000014.9:g.22842693A>G	ESP,ExAC,TOPMed
MMP14	P50281	p.Thr222Ile	rs757380549	missense variant	-	NC_000014.9:g.22842694C>T	ExAC,gnomAD
MMP14	P50281	p.Val223Ile	rs1335674737	missense variant	-	NC_000014.9:g.22842696G>A	TOPMed,gnomAD
MMP14	P50281	p.Asp227Asn	COSM3814502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22842708G>A	NCI-TCGA Cosmic
MMP14	P50281	p.Leu228Arg	rs369810660	missense variant	-	NC_000014.9:g.22842712T>G	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ile233Val	rs17884841	missense variant	-	NC_000014.9:g.22843265A>G	UniProt,dbSNP
MMP14	P50281	p.Ile233Val	VAR_021032	missense variant	-	NC_000014.9:g.22843265A>G	UniProt
MMP14	P50281	p.Ile233Val	rs17884841	missense variant	-	NC_000014.9:g.22843265A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Val238Gly	rs766751794	missense variant	-	NC_000014.9:g.22843281T>G	ExAC,gnomAD
MMP14	P50281	p.Val238Leu	rs200519097	missense variant	-	NC_000014.9:g.22843280G>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.His239Asp	rs1322938853	missense variant	-	NC_000014.9:g.22843283C>G	gnomAD
MMP14	P50281	p.Gly242Asp	rs1456860180	missense variant	-	NC_000014.9:g.22843293G>A	gnomAD
MMP14	P50281	p.Ala244Thr	rs1210218998	missense variant	-	NC_000014.9:g.22843298G>A	TOPMed
MMP14	P50281	p.Glu248Lys	rs143061668	missense variant	-	NC_000014.9:g.22843310G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ser251Gly	rs1479903613	missense variant	-	NC_000014.9:g.22843319A>G	gnomAD
MMP14	P50281	p.Ser251Ile	COSM4931471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843320G>T	NCI-TCGA Cosmic
MMP14	P50281	p.Asp252Tyr	COSM416241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843322G>T	NCI-TCGA Cosmic
MMP14	P50281	p.Pro253Ser	rs1310121651	missense variant	-	NC_000014.9:g.22843325C>T	TOPMed
MMP14	P50281	p.Ser254Leu	rs1425125078	missense variant	-	NC_000014.9:g.22843329C>T	TOPMed,gnomAD
MMP14	P50281	p.Ile256Val	rs372126942	missense variant	-	NC_000014.9:g.22843334A>G	ESP,ExAC,gnomAD
MMP14	P50281	p.Met257Lys	rs771529027	missense variant	-	NC_000014.9:g.22843338T>A	ExAC
MMP14	P50281	p.Ala258Ser	COSM954531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843340G>T	NCI-TCGA Cosmic
MMP14	P50281	p.Gln262Arg	rs1388240533	missense variant	-	NC_000014.9:g.22843353A>G	TOPMed,gnomAD
MMP14	P50281	p.Trp263Arg	rs911878094	missense variant	-	NC_000014.9:g.22843355T>A	gnomAD
MMP14	P50281	p.Trp263Ter	rs943286775	stop gained	-	NC_000014.9:g.22843357G>A	gnomAD
MMP14	P50281	p.Met264Arg	rs1420662677	missense variant	-	NC_000014.9:g.22843359T>G	gnomAD
MMP14	P50281	p.Met264Val	COSM272953	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843358A>G	NCI-TCGA Cosmic
MMP14	P50281	p.Thr266Met	rs374632825	missense variant	-	NC_000014.9:g.22843365C>T	ESP,TOPMed,gnomAD
MMP14	P50281	p.Pro272Leu	rs1248454372	missense variant	-	NC_000014.9:g.22843383C>T	TOPMed
MMP14	P50281	p.Pro272Ser	rs769069897	missense variant	-	NC_000014.9:g.22843382C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Pro272Ala	rs769069897	missense variant	-	NC_000014.9:g.22843382C>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asp273Asn	rs1042704	missense variant	-	NC_000014.9:g.22843385G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asp273Asn	rs1042704	missense variant	-	NC_000014.9:g.22843385G>A	UniProt,dbSNP
MMP14	P50281	p.Asp273Asn	VAR_021033	missense variant	-	NC_000014.9:g.22843385G>A	UniProt
MMP14	P50281	p.Asp273Gly	rs765715939	missense variant	-	NC_000014.9:g.22843386A>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asp273Val	rs765715939	missense variant	-	NC_000014.9:g.22843386A>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asp273His	rs1042704	missense variant	-	NC_000014.9:g.22843385G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asp275Glu	rs1268609388	missense variant	-	NC_000014.9:g.22843393C>A	gnomAD
MMP14	P50281	p.Arg276His	rs746743029	missense variant	-	NC_000014.9:g.22843395G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg276Cys	rs145239346	missense variant	-	NC_000014.9:g.22843394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg277Gln	rs142651327	missense variant	-	NC_000014.9:g.22843398G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg277Trp	rs137906578	missense variant	-	NC_000014.9:g.22843397C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly278Val	rs1368918391	missense variant	-	NC_000014.9:g.22843401G>T	gnomAD
MMP14	P50281	p.Leu282Ile	rs753622411	missense variant	-	NC_000014.9:g.22843412C>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Tyr283Cys	COSM4049908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843416A>G	NCI-TCGA Cosmic
MMP14	P50281	p.Gly284Ala	rs1383570601	missense variant	-	NC_000014.9:g.22843710G>C	TOPMed
MMP14	P50281	p.Gly285Cys	rs1181687314	missense variant	-	NC_000014.9:g.22843712G>T	gnomAD
MMP14	P50281	p.Glu286Lys	rs774979980	missense variant	-	NC_000014.9:g.22843715G>A	ExAC,gnomAD
MMP14	P50281	p.Ser287Leu	rs1180337400	missense variant	-	NC_000014.9:g.22843719C>T	TOPMed,gnomAD
MMP14	P50281	p.Gly288Glu	rs138573365	missense variant	-	NC_000014.9:g.22843722G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly288Arg	rs759559465	missense variant	-	NC_000014.9:g.22843721G>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly288Val	rs138573365	missense variant	-	NC_000014.9:g.22843722G>T	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly288Ala	rs138573365	missense variant	-	NC_000014.9:g.22843722G>C	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Phe289Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22843725T>C	NCI-TCGA
MMP14	P50281	p.Pro290Ser	rs1056628989	missense variant	-	NC_000014.9:g.22843727C>T	TOPMed
MMP14	P50281	p.Pro290Leu	COSM4049909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22843728C>T	NCI-TCGA Cosmic
MMP14	P50281	p.Thr291Asn	rs764286622	missense variant	-	NC_000014.9:g.22843731C>A	ExAC
MMP14	P50281	p.Lys292Thr	rs1222147807	missense variant	-	NC_000014.9:g.22843734A>C	TOPMed
MMP14	P50281	p.Met293Ile	rs762703541	missense variant	-	NC_000014.9:g.22843738G>A	ExAC,gnomAD
MMP14	P50281	p.Pro294His	rs1401750306	missense variant	-	NC_000014.9:g.22843740C>A	TOPMed,gnomAD
MMP14	P50281	p.Pro294Ser	rs755082954	missense variant	-	NC_000014.9:g.22843739C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Pro297Thr	rs1240321412	missense variant	-	NC_000014.9:g.22843748C>A	TOPMed
MMP14	P50281	p.Arg298Ser	rs754475004	missense variant	-	NC_000014.9:g.22843753G>C	ExAC,gnomAD
MMP14	P50281	p.Ser301Phe	rs974774546	missense variant	-	NC_000014.9:g.22843761C>T	gnomAD
MMP14	P50281	p.Arg302Trp	rs17884719	missense variant	-	NC_000014.9:g.22843763C>T	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg302Gln	rs144706082	missense variant	-	NC_000014.9:g.22843764G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg302Trp	rs17884719	missense variant	-	NC_000014.9:g.22843763C>T	UniProt,dbSNP
MMP14	P50281	p.Arg302Trp	VAR_021034	missense variant	-	NC_000014.9:g.22843763C>T	UniProt
MMP14	P50281	p.Asp307Gly	rs1220846314	missense variant	-	NC_000014.9:g.22843779A>G	TOPMed
MMP14	P50281	p.Asn311Ser	rs1444772485	missense variant	-	NC_000014.9:g.22843791A>G	gnomAD
MMP14	P50281	p.Pro312His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22843794C>A	NCI-TCGA
MMP14	P50281	p.Thr313Ile	rs1302334142	missense variant	-	NC_000014.9:g.22843797C>T	TOPMed
MMP14	P50281	p.Tyr314Asn	rs1261951097	missense variant	-	NC_000014.9:g.22843799T>A	gnomAD
MMP14	P50281	p.Tyr314Cys	rs1011977295	missense variant	-	NC_000014.9:g.22843800A>G	TOPMed,gnomAD
MMP14	P50281	p.Asp320Asn	rs143934919	missense variant	-	NC_000014.9:g.22843817G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly321Arg	rs746320385	missense variant	-	NC_000014.9:g.22843820G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Phe323Leu	rs772058764	missense variant	-	NC_000014.9:g.22843826T>C	ExAC,gnomAD
MMP14	P50281	p.Val326Met	rs747054970	missense variant	-	NC_000014.9:g.22843835G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala327Val	rs768905770	missense variant	-	NC_000014.9:g.22843839C>T	ExAC,gnomAD
MMP14	P50281	p.Met328Ile	rs535492372	missense variant	-	NC_000014.9:g.22843843G>T	1000Genomes,ExAC,gnomAD
MMP14	P50281	p.Leu329Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22843844C>A	NCI-TCGA
MMP14	P50281	p.Arg330Gln	rs762756687	missense variant	-	NC_000014.9:g.22843848G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly331Trp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22843850G>T	NCI-TCGA
MMP14	P50281	p.Gly331Val	rs766119742	missense variant	-	NC_000014.9:g.22843851G>T	ExAC,gnomAD
MMP14	P50281	p.Val335Asp	rs774156868	missense variant	-	NC_000014.9:g.22843863T>A	ExAC,gnomAD
MMP14	P50281	p.Phe336Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22843865T>C	NCI-TCGA
MMP14	P50281	p.Lys337Arg	rs1014624640	missense variant	-	NC_000014.9:g.22843869A>G	TOPMed
MMP14	P50281	p.Arg339Cys	rs763632539	missense variant	-	NC_000014.9:g.22844374C>T	ExAC,gnomAD
MMP14	P50281	p.Arg339His	rs140740223	missense variant	-	NC_000014.9:g.22844375G>A	ESP,ExAC,gnomAD
MMP14	P50281	p.Arg339Leu	rs140740223	missense variant	-	NC_000014.9:g.22844375G>T	ESP,ExAC,gnomAD
MMP14	P50281	p.Arg339Gly	rs763632539	missense variant	-	NC_000014.9:g.22844374C>G	ExAC,gnomAD
MMP14	P50281	p.Arg343Leu	rs367667276	missense variant	-	NC_000014.9:g.22844387G>T	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg343Gly	rs774971754	missense variant	-	NC_000014.9:g.22844386C>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg343Trp	rs774971754	missense variant	-	NC_000014.9:g.22844386C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg343Gln	rs367667276	missense variant	-	NC_000014.9:g.22844387G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Val344Met	rs1162543120	missense variant	-	NC_000014.9:g.22844389G>A	gnomAD
MMP14	P50281	p.Val344Gly	rs935871908	missense variant	-	NC_000014.9:g.22844390T>G	gnomAD
MMP14	P50281	p.Arg345Thr	rs151330457	missense variant	-	NC_000014.9:g.22844393G>C	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asn346Ser	rs1315673455	missense variant	-	NC_000014.9:g.22844396A>G	gnomAD
MMP14	P50281	p.Asn346Asp	COSM954533	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22844395A>G	NCI-TCGA Cosmic
MMP14	P50281	p.Met350Ile	rs371549086	missense variant	-	NC_000014.9:g.22844409G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly352Arg	rs755052235	missense variant	-	NC_000014.9:g.22844413G>A	ExAC,gnomAD
MMP14	P50281	p.Pro354Leu	rs781186873	missense variant	-	NC_000014.9:g.22844420C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Met355Val	rs748209240	missense variant	-	NC_000014.9:g.22844422A>G	ExAC,gnomAD
MMP14	P50281	p.Met355Ile	rs17880989	missense variant	-	NC_000014.9:g.22844424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Pro356Leu	rs1353167737	missense variant	-	NC_000014.9:g.22844426C>T	TOPMed,gnomAD
MMP14	P50281	p.Pro356Ser	rs777838822	missense variant	-	NC_000014.9:g.22844425C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Pro356Ala	rs777838822	missense variant	-	NC_000014.9:g.22844425C>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ile357Thr	rs771727412	missense variant	-	NC_000014.9:g.22844429T>C	ExAC,gnomAD
MMP14	P50281	p.Gly358Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22844431G>C	NCI-TCGA
MMP14	P50281	p.Gln359His	rs1315172981	missense variant	-	NC_000014.9:g.22844436G>C	TOPMed
MMP14	P50281	p.Arg362Trp	rs775551564	missense variant	-	NC_000014.9:g.22844443C>T	ExAC,gnomAD
MMP14	P50281	p.Arg362Gln	rs535348638	missense variant	-	NC_000014.9:g.22844444G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly363Ser	rs1241775125	missense variant	-	NC_000014.9:g.22844446G>A	gnomAD
MMP14	P50281	p.Pro365Arg	COSM3495031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22844453C>G	NCI-TCGA Cosmic
MMP14	P50281	p.Ala366Val	rs150036710	missense variant	-	NC_000014.9:g.22844456C>T	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ser367Pro	rs764989341	missense variant	-	NC_000014.9:g.22844458T>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ser367Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22844458T>G	NCI-TCGA
MMP14	P50281	p.Asn369His	rs969162971	missense variant	-	NC_000014.9:g.22844464A>C	TOPMed
MMP14	P50281	p.Tyr372Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.22844475C>G	NCI-TCGA
MMP14	P50281	p.Glu373Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22844478G>C	NCI-TCGA
MMP14	P50281	p.Glu373Lys	rs766583270	missense variant	-	NC_000014.9:g.22844476G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg374Lys	rs1338119090	missense variant	-	NC_000014.9:g.22844480G>A	TOPMed,gnomAD
MMP14	P50281	p.Lys375Asn	rs755533831	missense variant	-	NC_000014.9:g.22844484G>T	ExAC,TOPMed
MMP14	P50281	p.Asp376Glu	rs372860898	missense variant	-	NC_000014.9:g.22844487T>A	ESP,ExAC,gnomAD
MMP14	P50281	p.Val380Ile	rs749406594	missense variant	-	NC_000014.9:g.22844497G>A	ExAC,gnomAD
MMP14	P50281	p.Phe381Val	rs773570739	missense variant	-	NC_000014.9:g.22844500T>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Phe381Leu	rs773570739	missense variant	-	NC_000014.9:g.22844500T>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Lys383Gln	rs1225491178	missense variant	-	NC_000014.9:g.22844506A>C	gnomAD
MMP14	P50281	p.Lys383Arg	rs746797730	missense variant	-	NC_000014.9:g.22844507A>G	ExAC,gnomAD
MMP14	P50281	p.Gly384Glu	rs757488463	missense variant	-	NC_000014.9:g.22844630G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.His387Arg	rs200944154	missense variant	-	NC_000014.9:g.22844639A>G	1000Genomes,ExAC,gnomAD
MMP14	P50281	p.Trp388Ter	rs1407824806	stop gained	-	NC_000014.9:g.22844642G>A	TOPMed
MMP14	P50281	p.Val389Met	rs746849048	missense variant	-	NC_000014.9:g.22844644G>A	ExAC,gnomAD
MMP14	P50281	p.Asp391Asn	rs375264361	missense variant	-	NC_000014.9:g.22844650G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asp391Glu	rs747968435	missense variant	-	NC_000014.9:g.22844652T>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala393Thr	rs1479786662	missense variant	-	NC_000014.9:g.22844656G>A	gnomAD
MMP14	P50281	p.Ser394Phe	rs772652726	missense variant	-	NC_000014.9:g.22844660C>T	ExAC,gnomAD
MMP14	P50281	p.Leu395Val	rs748822217	missense variant	-	NC_000014.9:g.22844662C>G	ExAC,gnomAD
MMP14	P50281	p.Glu396Lys	rs770606883	missense variant	-	NC_000014.9:g.22844665G>A	ExAC,gnomAD
MMP14	P50281	p.Glu396Gln	rs770606883	missense variant	-	NC_000014.9:g.22844665G>C	ExAC,gnomAD
MMP14	P50281	p.Gly398Ser	rs368081817	missense variant	-	NC_000014.9:g.22844671G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Lys401Arg	rs766583966	missense variant	-	NC_000014.9:g.22844681A>G	ExAC,gnomAD
MMP14	P50281	p.His402Tyr	rs761145231	missense variant	-	NC_000014.9:g.22844683C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly407Ala	rs764659510	missense variant	-	NC_000014.9:g.22844699G>C	ExAC,gnomAD
MMP14	P50281	p.Arg408Gln	rs753905711	missense variant	-	NC_000014.9:g.22844702G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg408Leu	rs753905711	missense variant	-	NC_000014.9:g.22844702G>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg408Ter	COSM954535	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.22844701C>T	NCI-TCGA Cosmic
MMP14	P50281	p.Gly409Glu	rs1361991049	missense variant	-	NC_000014.9:g.22844705G>A	TOPMed,gnomAD
MMP14	P50281	p.del411ThrGlyPheValLeuLysTyrGlnIleLysSerTerUnk	rs750469248	stop gained	-	NC_000014.9:g.22844709_22844710insACTGGCTTTGTGCTTAAATACCAGATAAAAAGCTAGA	ExAC
MMP14	P50281	p.Pro411Ser	rs960666429	missense variant	-	NC_000014.9:g.22844710C>T	gnomAD
MMP14	P50281	p.Asp413Asn	rs765577412	missense variant	-	NC_000014.9:g.22844716G>A	ExAC,gnomAD
MMP14	P50281	p.Ile415Thr	rs754823222	missense variant	-	NC_000014.9:g.22844723T>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala418Val	rs145386551	missense variant	-	NC_000014.9:g.22844732C>T	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Leu419Val	rs747959356	missense variant	-	NC_000014.9:g.22844734C>G	ExAC,gnomAD
MMP14	P50281	p.Leu419Phe	rs747959356	missense variant	-	NC_000014.9:g.22844734C>T	ExAC,gnomAD
MMP14	P50281	p.Phe420Leu	rs1426240582	missense variant	-	NC_000014.9:g.22844737T>C	TOPMed,gnomAD
MMP14	P50281	p.Trp421Arg	rs756070951	missense variant	-	NC_000014.9:g.22844740T>C	ExAC,gnomAD
MMP14	P50281	p.Lys426Thr	rs1454477988	missense variant	-	NC_000014.9:g.22844756A>C	gnomAD
MMP14	P50281	p.Thr427Ile	rs1290763435	missense variant	-	NC_000014.9:g.22844759C>T	gnomAD
MMP14	P50281	p.Phe429Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22844764T>G	NCI-TCGA
MMP14	P50281	p.Arg431Cys	rs770392329	missense variant	-	NC_000014.9:g.22844770C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg431His	rs3751489	missense variant	-	NC_000014.9:g.22844771G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg431His	rs3751489	missense variant	-	NC_000014.9:g.22844771G>A	UniProt,dbSNP
MMP14	P50281	p.Arg431His	VAR_031267	missense variant	-	NC_000014.9:g.22844771G>A	UniProt
MMP14	P50281	p.Lys434Thr	rs745468018	missense variant	-	NC_000014.9:g.22844780A>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Lys434Asn	rs779735411	missense variant	-	NC_000014.9:g.22845251G>T	ExAC,gnomAD
MMP14	P50281	p.Tyr435Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22845253A>C	NCI-TCGA
MMP14	P50281	p.Tyr436Cys	rs769024747	missense variant	-	NC_000014.9:g.22845256A>G	ExAC,gnomAD
MMP14	P50281	p.Arg437Cys	rs762349938	missense variant	-	NC_000014.9:g.22845258C>T	ExAC,gnomAD
MMP14	P50281	p.Arg437His	rs770410137	missense variant	-	NC_000014.9:g.22845259G>A	ExAC,gnomAD
MMP14	P50281	p.Asn439Thr	rs563782263	missense variant	-	NC_000014.9:g.22845265A>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu440Lys	rs1176285078	missense variant	-	NC_000014.9:g.22845267G>A	TOPMed,gnomAD
MMP14	P50281	p.Glu440Asp	rs1355481871	missense variant	-	NC_000014.9:g.22845269A>T	gnomAD
MMP14	P50281	p.Glu441Gly	rs766554739	missense variant	-	NC_000014.9:g.22845271A>G	ExAC,gnomAD
MMP14	P50281	p.Leu442Phe	rs1296793451	missense variant	-	NC_000014.9:g.22845273C>T	gnomAD
MMP14	P50281	p.Arg443Gly	rs993731511	missense variant	-	NC_000014.9:g.22845276A>G	TOPMed
MMP14	P50281	p.Ala444Ser	rs751752624	missense variant	-	NC_000014.9:g.22845279G>T	ExAC,gnomAD
MMP14	P50281	p.Ala444Thr	rs751752624	missense variant	-	NC_000014.9:g.22845279G>A	ExAC,gnomAD
MMP14	P50281	p.Val445Met	rs1343929448	missense variant	-	NC_000014.9:g.22845282G>A	TOPMed
MMP14	P50281	p.Ser447Arg	rs763893954	missense variant	-	NC_000014.9:g.22845290C>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ser447Ile	rs760395658	missense variant	-	NC_000014.9:g.22845289G>T	ExAC,gnomAD
MMP14	P50281	p.Ser447Cys	rs868120409	missense variant	-	NC_000014.9:g.22845288A>T	gnomAD
MMP14	P50281	p.Ser447Gly	rs868120409	missense variant	-	NC_000014.9:g.22845288A>G	gnomAD
MMP14	P50281	p.Glu448Lys	rs753565021	missense variant	-	NC_000014.9:g.22845291G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu448Val	rs757253086	missense variant	-	NC_000014.9:g.22845292A>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asn452Asp	rs778793506	missense variant	-	NC_000014.9:g.22845303A>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Lys454Glu	rs757855901	missense variant	-	NC_000014.9:g.22845309A>G	ExAC,gnomAD
MMP14	P50281	p.Glu457Lys	rs1209497673	missense variant	-	NC_000014.9:g.22845318G>A	gnomAD
MMP14	P50281	p.Gly458Glu	rs779602753	missense variant	-	NC_000014.9:g.22845322G>A	ExAC,gnomAD
MMP14	P50281	p.Arg464Gly	rs1408120398	missense variant	-	NC_000014.9:g.22845339A>G	TOPMed
MMP14	P50281	p.Phe467Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22845349T>A	NCI-TCGA
MMP14	P50281	p.Phe467Leu	rs1168823031	missense variant	-	NC_000014.9:g.22845350C>G	TOPMed,gnomAD
MMP14	P50281	p.Phe467Leu	rs768913182	missense variant	-	NC_000014.9:g.22845348T>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Met468Leu	rs371713859	missense variant	-	NC_000014.9:g.22845351A>T	gnomAD
MMP14	P50281	p.Met468Val	rs371713859	missense variant	-	NC_000014.9:g.22845351A>G	gnomAD
MMP14	P50281	p.Met468Thr	rs1424804543	missense variant	-	NC_000014.9:g.22845352T>C	TOPMed
MMP14	P50281	p.Gly469Asp	rs781662896	missense variant	-	NC_000014.9:g.22845355G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asp471Asn	rs144839050	missense variant	-	NC_000014.9:g.22845360G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Val473Gly	rs1487203296	missense variant	-	NC_000014.9:g.22845708T>G	TOPMed
MMP14	P50281	p.Tyr476Cys	rs748568006	missense variant	-	NC_000014.9:g.22845717A>G	ExAC,gnomAD
MMP14	P50281	p.Tyr476Asp	rs780674045	missense variant	-	NC_000014.9:g.22845716T>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Tyr478Asn	rs1364207266	missense variant	-	NC_000014.9:g.22845722T>A	gnomAD
MMP14	P50281	p.Tyr478His	rs1364207266	missense variant	-	NC_000014.9:g.22845722T>C	gnomAD
MMP14	P50281	p.Tyr478Cys	rs1246512601	missense variant	-	NC_000014.9:g.22845723A>G	gnomAD
MMP14	P50281	p.Lys479Glu	rs1328341129	missense variant	-	NC_000014.9:g.22845725A>G	TOPMed
MMP14	P50281	p.Gly480Arg	rs778451954	missense variant	-	NC_000014.9:g.22845728G>A	ExAC,gnomAD
MMP14	P50281	p.Gly480Glu	COSM3495032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22845729G>A	NCI-TCGA Cosmic
MMP14	P50281	p.Lys482Arg	rs1285088969	missense variant	-	NC_000014.9:g.22845735A>G	gnomAD
MMP14	P50281	p.Tyr483Ser	rs749757665	missense variant	-	NC_000014.9:g.22845738A>C	ExAC,gnomAD
MMP14	P50281	p.Phe486Ser	COSM954536	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.22845747T>C	NCI-TCGA Cosmic
MMP14	P50281	p.Asn488Lys	rs771333204	missense variant	-	NC_000014.9:g.22845754C>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gln489Arg	rs202162126	missense variant	-	NC_000014.9:g.22845756A>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Leu491Val	rs745906569	missense variant	-	NC_000014.9:g.22845761C>G	ExAC
MMP14	P50281	p.Val493Ala	rs992485705	missense variant	-	NC_000014.9:g.22845768T>C	TOPMed
MMP14	P50281	p.Pro495Leu	rs772385476	missense variant	-	NC_000014.9:g.22845774C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly496Arg	rs761628798	missense variant	-	NC_000014.9:g.22845776G>C	ExAC,gnomAD
MMP14	P50281	p.Tyr497His	rs1442419564	missense variant	-	NC_000014.9:g.22845779T>C	TOPMed,gnomAD
MMP14	P50281	p.Pro498Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22845783C>T	NCI-TCGA
MMP14	P50281	p.Leu502Met	rs1408075864	missense variant	-	NC_000014.9:g.22845794C>A	gnomAD
MMP14	P50281	p.Asp504Gly	rs201413207	missense variant	-	NC_000014.9:g.22845801A>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Met506Lys	rs773145545	missense variant	-	NC_000014.9:g.22845807T>A	ExAC,gnomAD
MMP14	P50281	p.Gly507Ser	rs980032532	missense variant	-	NC_000014.9:g.22845809G>A	TOPMed
MMP14	P50281	p.Pro509Thr	rs763004903	missense variant	-	NC_000014.9:g.22845815C>A	ExAC,gnomAD
MMP14	P50281	p.Pro509Leu	rs766221210	missense variant	-	NC_000014.9:g.22845816C>T	ExAC,gnomAD
MMP14	P50281	p.Ser510Leu	rs751116643	missense variant	-	NC_000014.9:g.22845819C>T	ExAC,gnomAD
MMP14	P50281	p.Gly512Asp	rs767298621	missense variant	-	NC_000014.9:g.22845825G>A	ExAC,gnomAD
MMP14	P50281	p.Arg513Gln	rs756563389	missense variant	-	NC_000014.9:g.22845828G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg513Trp	rs141384790	missense variant	-	NC_000014.9:g.22845827C>T	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Pro514Leu	rs202185020	missense variant	-	NC_000014.9:g.22845831C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Asp515Gly	rs1241716174	missense variant	-	NC_000014.9:g.22845834A>G	gnomAD
MMP14	P50281	p.Gly517Arg	rs779266784	missense variant	-	NC_000014.9:g.22845839G>C	ExAC,gnomAD
MMP14	P50281	p.Gly517Glu	rs536472819	missense variant	-	NC_000014.9:g.22845840G>A	1000Genomes,ExAC,gnomAD
MMP14	P50281	p.Gly517Arg	rs779266784	missense variant	-	NC_000014.9:g.22845839G>A	ExAC,gnomAD
MMP14	P50281	p.Thr518Ile	rs374911087	missense variant	-	NC_000014.9:g.22845843C>T	ESP,ExAC,gnomAD
MMP14	P50281	p.Glu519Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22845845G>C	NCI-TCGA
MMP14	P50281	p.Glu521Lys	rs1467207189	missense variant	-	NC_000014.9:g.22845851G>A	gnomAD
MMP14	P50281	p.Glu521Asp	rs1156362088	missense variant	-	NC_000014.9:g.22845853G>C	gnomAD
MMP14	P50281	p.Thr522Arg	rs150346850	missense variant	-	NC_000014.9:g.22845855C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Thr522Met	rs150346850	missense variant	-	NC_000014.9:g.22845855C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Val524Ala	rs1403655464	missense variant	-	NC_000014.9:g.22845861T>C	gnomAD
MMP14	P50281	p.Ile525Thr	rs1395303821	missense variant	-	NC_000014.9:g.22845864T>C	gnomAD
MMP14	P50281	p.Ile526Val	rs1329296247	missense variant	-	NC_000014.9:g.22845866A>G	gnomAD
MMP14	P50281	p.Ile527Thr	rs377348480	missense variant	-	NC_000014.9:g.22845870T>C	ESP,ExAC,gnomAD
MMP14	P50281	p.Ile527Val	rs573497993	missense variant	-	NC_000014.9:g.22845869A>G	1000Genomes,ExAC,gnomAD
MMP14	P50281	p.Glu528Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.22845872G>A	NCI-TCGA
MMP14	P50281	p.Asp530Glu	rs767065741	missense variant	-	NC_000014.9:g.22845880C>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu531Lys	rs760473001	missense variant	-	NC_000014.9:g.22845881G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Glu531Gln	rs760473001	missense variant	-	NC_000014.9:g.22845881G>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly533Asp	rs763810739	missense variant	-	NC_000014.9:g.22845888G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Gly533Ser	rs996723787	missense variant	-	NC_000014.9:g.22845887G>A	gnomAD
MMP14	P50281	p.Gly534Ser	rs757515188	missense variant	-	NC_000014.9:g.22845890G>A	ExAC,gnomAD
MMP14	P50281	p.Gly534Asp	rs1480446558	missense variant	-	NC_000014.9:g.22845891G>A	TOPMed,gnomAD
MMP14	P50281	p.Gly535Ala	rs201085089	missense variant	-	NC_000014.9:g.22845894G>C	1000Genomes,ExAC,gnomAD
MMP14	P50281	p.Gly535Arg	rs138052455	missense variant	-	NC_000014.9:g.22845893G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala536Pro	rs1465458128	missense variant	-	NC_000014.9:g.22845896G>C	gnomAD
MMP14	P50281	p.Ala536Val	rs758484236	missense variant	-	NC_000014.9:g.22845897C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala539Thr	rs1005696831	missense variant	-	NC_000014.9:g.22845905G>A	TOPMed,gnomAD
MMP14	P50281	p.Ala539Val	rs1406906704	missense variant	-	NC_000014.9:g.22845906C>T	TOPMed,gnomAD
MMP14	P50281	p.Ala540Val	rs749125749	missense variant	-	NC_000014.9:g.22845909C>T	ExAC,gnomAD
MMP14	P50281	p.Ala541Val	rs770589125	missense variant	-	NC_000014.9:g.22845912C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Val542Met	rs759453175	missense variant	-	NC_000014.9:g.22845914G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Val543Leu	rs1273547219	missense variant	-	NC_000014.9:g.22845917G>C	gnomAD
MMP14	P50281	p.Val543Met	rs1273547219	missense variant	-	NC_000014.9:g.22845917G>A	gnomAD
MMP14	P50281	p.Pro545Leu	rs772133357	missense variant	-	NC_000014.9:g.22845924C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Val546Leu	rs760243884	missense variant	-	NC_000014.9:g.22845926G>C	ExAC,TOPMed
MMP14	P50281	p.Val546Met	rs760243884	missense variant	-	NC_000014.9:g.22845926G>A	ExAC,TOPMed
MMP14	P50281	p.Leu550Pro	rs1264627362	missense variant	-	NC_000014.9:g.22845939T>C	gnomAD
MMP14	P50281	p.Ala554Val	rs763861973	missense variant	-	NC_000014.9:g.22845951C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Ala554Thr	rs1432544987	missense variant	-	NC_000014.9:g.22845950G>A	gnomAD
MMP14	P50281	p.Val555Met	rs762245747	missense variant	-	NC_000014.9:g.22845953G>A	ExAC,gnomAD
MMP14	P50281	p.Val555Leu	rs762245747	missense variant	-	NC_000014.9:g.22845953G>T	ExAC,gnomAD
MMP14	P50281	p.Val555Ala	rs750784975	missense variant	-	NC_000014.9:g.22845954T>C	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Leu557Phe	rs1426747649	missense variant	-	NC_000014.9:g.22845959C>T	gnomAD
MMP14	P50281	p.Leu557Pro	rs1291905369	missense variant	-	NC_000014.9:g.22845960T>C	gnomAD
MMP14	P50281	p.Phe562Leu	rs561255366	missense variant	-	NC_000014.9:g.22845974T>C	1000Genomes,ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg564Cys	rs369565852	missense variant	-	NC_000014.9:g.22845980C>T	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg564His	rs140676928	missense variant	-	NC_000014.9:g.22845981G>A	ESP,ExAC,TOPMed,gnomAD
MMP14	P50281	p.His565Arg	rs1316136288	missense variant	-	NC_000014.9:g.22845984A>G	gnomAD
MMP14	P50281	p.Gly566Val	rs1164887509	missense variant	-	NC_000014.9:g.22845987G>T	TOPMed
MMP14	P50281	p.Thr567Ser	rs1247653326	missense variant	-	NC_000014.9:g.22845989A>T	gnomAD
MMP14	P50281	p.Pro568Leu	rs1263204215	missense variant	-	NC_000014.9:g.22845993C>T	gnomAD
MMP14	P50281	p.Arg570Gln	rs754998921	missense variant	-	NC_000014.9:g.22845999G>A	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Arg570Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.22845998C>T	NCI-TCGA
MMP14	P50281	p.Leu572Pro	rs969719906	missense variant	-	NC_000014.9:g.22846005T>C	TOPMed,gnomAD
MMP14	P50281	p.Leu572Ile	rs1263837276	missense variant	-	NC_000014.9:g.22846004C>A	gnomAD
MMP14	P50281	p.Arg576Cys	rs1446692471	missense variant	-	NC_000014.9:g.22846016C>T	gnomAD
MMP14	P50281	p.Arg576His	rs979977579	missense variant	-	NC_000014.9:g.22846017G>A	TOPMed,gnomAD
MMP14	P50281	p.Ser577Phe	rs1162893678	missense variant	-	NC_000014.9:g.22846020C>T	gnomAD
MMP14	P50281	p.Leu578Gln	rs1454427763	missense variant	-	NC_000014.9:g.22846023T>A	gnomAD
MMP14	P50281	p.Asp580Glu	rs748250494	missense variant	-	NC_000014.9:g.22846030C>G	ExAC,TOPMed,gnomAD
MMP14	P50281	p.Lys581Asn	rs1434989438	missense variant	-	NC_000014.9:g.22846033G>T	gnomAD
SERPINH1	P50454	p.Arg2Cys	rs1179959048	missense variant	-	NC_000011.10:g.75566353C>T	TOPMed
SERPINH1	P50454	p.Arg2His	rs776045465	missense variant	-	NC_000011.10:g.75566354G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ser3Phe	rs763538958	missense variant	-	NC_000011.10:g.75566357C>T	ExAC,gnomAD
SERPINH1	P50454	p.Leu7Phe	rs764762999	missense variant	-	NC_000011.10:g.75566368C>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala9Thr	rs1243981635	missense variant	-	NC_000011.10:g.75566374G>A	gnomAD
SERPINH1	P50454	p.Phe10Ser	rs757293522	missense variant	-	NC_000011.10:g.75566378T>C	ExAC,gnomAD
SERPINH1	P50454	p.Phe10Val	rs751588882	missense variant	-	NC_000011.10:g.75566377T>G	ExAC,gnomAD
SERPINH1	P50454	p.Cys11Tyr	rs1411853245	missense variant	-	NC_000011.10:g.75566381G>A	gnomAD
SERPINH1	P50454	p.Leu13Gln	rs767726256	missense variant	-	NC_000011.10:g.75566387T>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu14Lys	rs750583954	missense variant	-	NC_000011.10:g.75566389G>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu14Gln	rs750583954	missense variant	-	NC_000011.10:g.75566389G>C	ExAC,gnomAD
SERPINH1	P50454	p.Ala16Val	rs779814242	missense variant	-	NC_000011.10:g.75566396C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala18Thr	rs749150631	missense variant	-	NC_000011.10:g.75566401G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala19Thr	rs778730843	missense variant	-	NC_000011.10:g.75566404G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala19Ser	rs778730843	missense variant	-	NC_000011.10:g.75566404G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu20Lys	rs200397594	missense variant	-	NC_000011.10:g.75566407G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro24Arg	rs1455685529	missense variant	-	NC_000011.10:g.75566420C>G	gnomAD
SERPINH1	P50454	p.Ala25Thr	rs775990446	missense variant	-	NC_000011.10:g.75566422G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala25Val	rs1008194909	missense variant	-	NC_000011.10:g.75566423C>T	TOPMed,gnomAD
SERPINH1	P50454	p.Ala27Thr	rs1255465997	missense variant	-	NC_000011.10:g.75566428G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Ala29Pro	rs1458579009	missense variant	-	NC_000011.10:g.75566434G>C	TOPMed
SERPINH1	P50454	p.Ala29Gly	rs774738608	missense variant	-	NC_000011.10:g.75566435C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala29Val	rs774738608	missense variant	-	NC_000011.10:g.75566435C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly31Ala	RCV000343777	missense variant	-	NC_000011.10:g.75566441G>C	ClinVar
SERPINH1	P50454	p.Gly31Ala	rs140588417	missense variant	-	NC_000011.10:g.75566441G>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly31Ala	RCV000387403	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566441G>C	ClinVar
SERPINH1	P50454	p.Thr32Ser	rs1346770501	missense variant	-	NC_000011.10:g.75566444C>G	gnomAD
SERPINH1	P50454	p.Ala33Pro	rs150061926	missense variant	-	NC_000011.10:g.75566446G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala33Ser	rs150061926	missense variant	-	NC_000011.10:g.75566446G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala33Val	rs754791521	missense variant	-	NC_000011.10:g.75566447C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu34Gln	rs1243031165	missense variant	-	NC_000011.10:g.75566449G>C	TOPMed
SERPINH1	P50454	p.Lys35Met	rs752546581	missense variant	-	NC_000011.10:g.75566453A>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro38Ser	rs1222845521	missense variant	-	NC_000011.10:g.75566461C>T	TOPMed
SERPINH1	P50454	p.Lys39Thr	rs777133890	missense variant	-	NC_000011.10:g.75566465A>C	ExAC
SERPINH1	P50454	p.Ala40Val	rs1281239903	missense variant	-	NC_000011.10:g.75566468C>T	gnomAD
SERPINH1	P50454	p.Thr42Lys	rs781002791	missense variant	-	NC_000011.10:g.75566474C>A	ExAC,gnomAD
SERPINH1	P50454	p.Leu43Phe	rs768929258	missense variant	-	NC_000011.10:g.75566476C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu43Val	rs768929258	missense variant	-	NC_000011.10:g.75566476C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala44Thr	rs995079770	missense variant	-	NC_000011.10:g.75566479G>A	-
SERPINH1	P50454	p.Ala44Gly	rs1381440814	missense variant	-	NC_000011.10:g.75566480C>G	TOPMed
SERPINH1	P50454	p.Ser47Ile	RCV000521163	missense variant	-	NC_000011.10:g.75566489_75566490delinsTT	ClinVar
SERPINH1	P50454	p.Ser47Gly	rs1251272276	missense variant	-	NC_000011.10:g.75566488A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Ser47Ile	rs1555025879	missense variant	-	NC_000011.10:g.75566489_75566490delinsTT	-
SERPINH1	P50454	p.Gly49Val	rs1362402134	missense variant	-	NC_000011.10:g.75566495G>T	TOPMed,gnomAD
SERPINH1	P50454	p.Leu50Gln	rs772706450	missense variant	-	NC_000011.10:g.75566498T>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala51Asp	rs1392780279	missense variant	-	NC_000011.10:g.75566501C>A	gnomAD
SERPINH1	P50454	p.Ala51Thr	rs1171329004	missense variant	-	NC_000011.10:g.75566500G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Phe52Leu	rs1435975435	missense variant	-	NC_000011.10:g.75566503T>C	TOPMed,gnomAD
SERPINH1	P50454	p.Ser53Asn	rs773211240	missense variant	-	NC_000011.10:g.75566507G>A	ExAC,gnomAD
SERPINH1	P50454	p.Leu54Val	rs540061657	missense variant	-	NC_000011.10:g.75566509T>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu54Phe	rs1407839158	missense variant	-	NC_000011.10:g.75566511G>T	gnomAD
SERPINH1	P50454	p.Gln56Ter	rs1330692923	stop gained	-	NC_000011.10:g.75566515C>T	gnomAD
SERPINH1	P50454	p.Gln56Arg	rs553519612	missense variant	-	NC_000011.10:g.75566516A>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met58Thr	rs764918894	missense variant	-	NC_000011.10:g.75566522T>C	ExAC,gnomAD
SERPINH1	P50454	p.Ala59Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566525C>G	NCI-TCGA
SERPINH1	P50454	p.Lys60Glu	rs752594307	missense variant	-	NC_000011.10:g.75566527A>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala63Thr	rs758261919	missense variant	-	NC_000011.10:g.75566536G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala63Glu	rs576480194	missense variant	-	NC_000011.10:g.75566537C>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala63Val	rs576480194	missense variant	-	NC_000011.10:g.75566537C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ile67Val	rs780947787	missense variant	-	NC_000011.10:g.75566548A>G	ExAC,gnomAD
SERPINH1	P50454	p.Val69Leu	rs755858302	missense variant	-	NC_000011.10:g.75566554G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser70Pro	rs1455213836	missense variant	-	NC_000011.10:g.75566557T>C	gnomAD
SERPINH1	P50454	p.Pro71Ser	rs779144412	missense variant	-	NC_000011.10:g.75566560C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro71Ala	rs779144412	missense variant	-	NC_000011.10:g.75566560C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val72Met	rs868134687	missense variant	-	NC_000011.10:g.75566563G>A	gnomAD
SERPINH1	P50454	p.Val72Leu	rs868134687	missense variant	-	NC_000011.10:g.75566563G>T	gnomAD
SERPINH1	P50454	p.Val74Leu	rs1404479835	missense variant	-	NC_000011.10:g.75566569G>T	gnomAD
SERPINH1	P50454	p.Ala75Val	rs1452549591	missense variant	-	NC_000011.10:g.75566573C>T	TOPMed
SERPINH1	P50454	p.Ser76Trp	rs376824871	missense variant	-	NC_000011.10:g.75566576C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser76Leu	rs376824871	missense variant	-	NC_000011.10:g.75566576C>T	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser77Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566579C>T	NCI-TCGA
SERPINH1	P50454	p.Leu78Pro	RCV000023052	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75566582T>C	ClinVar
SERPINH1	P50454	p.Leu78Pro	rs137853892	missense variant	Osteogenesis imperfecta 10 (OI10)	NC_000011.10:g.75566582T>C	UniProt,dbSNP
SERPINH1	P50454	p.Leu78Pro	VAR_063602	missense variant	Osteogenesis imperfecta 10 (OI10)	NC_000011.10:g.75566582T>C	UniProt
SERPINH1	P50454	p.Leu78Pro	rs137853892	missense variant	-	NC_000011.10:g.75566582T>C	-
SERPINH1	P50454	p.Gly79Trp	rs765561870	missense variant	-	NC_000011.10:g.75566584G>T	ExAC,gnomAD
SERPINH1	P50454	p.Val81Met	rs1246483844	missense variant	-	NC_000011.10:g.75566590G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Val81Leu	rs1246483844	missense variant	-	NC_000011.10:g.75566590G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Ser82Leu	rs1275419791	missense variant	-	NC_000011.10:g.75566594C>T	gnomAD
SERPINH1	P50454	p.Ser82Ala	rs751575798	missense variant	-	NC_000011.10:g.75566593T>G	ExAC,gnomAD
SERPINH1	P50454	p.Gly85Ser	rs1208647821	missense variant	-	NC_000011.10:g.75566602G>A	gnomAD
SERPINH1	P50454	p.Gly85Cys	rs1208647821	missense variant	-	NC_000011.10:g.75566602G>T	gnomAD
SERPINH1	P50454	p.Gly85Asp	rs1260506914	missense variant	-	NC_000011.10:g.75566603G>A	gnomAD
SERPINH1	P50454	p.Ala87Val	rs913843138	missense variant	-	NC_000011.10:g.75566609C>T	gnomAD
SERPINH1	P50454	p.Thr88Ile	rs1373248815	missense variant	-	NC_000011.10:g.75566612C>T	gnomAD
SERPINH1	P50454	p.Thr89Arg	rs1419722597	missense variant	-	NC_000011.10:g.75566615C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Thr89Met	rs1419722597	missense variant	-	NC_000011.10:g.75566615C>T	TOPMed,gnomAD
SERPINH1	P50454	p.Ala90Thr	COSM931998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75566617G>A	NCI-TCGA Cosmic
SERPINH1	P50454	p.Ser91Leu	rs750020039	missense variant	-	NC_000011.10:g.75566621C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala93Ser	rs1319259821	missense variant	-	NC_000011.10:g.75566626G>T	gnomAD
SERPINH1	P50454	p.Ala95Thr	rs1340041209	missense variant	-	NC_000011.10:g.75566632G>A	gnomAD
SERPINH1	P50454	p.Ser98Asn	rs541595707	missense variant	-	NC_000011.10:g.75566642G>A	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Ala99Thr	rs771330167	missense variant	-	NC_000011.10:g.75566644G>A	gnomAD
SERPINH1	P50454	p.Ala99Gly	rs748414210	missense variant	-	NC_000011.10:g.75566645C>G	ExAC,TOPMed
SERPINH1	P50454	p.Glu100Asp	rs1477630216	missense variant	-	NC_000011.10:g.75566649G>C	gnomAD
SERPINH1	P50454	p.Glu100Gln	rs749665611	missense variant	-	NC_000011.10:g.75566647G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu100Lys	rs749665611	missense variant	-	NC_000011.10:g.75566647G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu100Lys	RCV000403806	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566647G>A	ClinVar
SERPINH1	P50454	p.Gln101Arg	rs747493825	missense variant	-	NC_000011.10:g.75566651A>G	ExAC,gnomAD
SERPINH1	P50454	p.Leu102Gln	rs377583721	missense variant	-	NC_000011.10:g.75566654T>A	ESP,ExAC,gnomAD
SERPINH1	P50454	p.Arg103Cys	rs369290752	missense variant	-	NC_000011.10:g.75566656C>T	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Arg103His	rs1485163348	missense variant	-	NC_000011.10:g.75566657G>A	gnomAD
SERPINH1	P50454	p.Asp104Asn	rs1259422392	missense variant	-	NC_000011.10:g.75566659G>A	gnomAD
SERPINH1	P50454	p.Glu105Gly	rs1041020879	missense variant	-	NC_000011.10:g.75566663A>G	TOPMed
SERPINH1	P50454	p.Glu105Gln	rs376810317	missense variant	-	NC_000011.10:g.75566662G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Glu105Lys	rs376810317	missense variant	-	NC_000011.10:g.75566662G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu106Asp	rs561786753	missense variant	-	NC_000011.10:g.75566667G>C	1000Genomes,gnomAD
SERPINH1	P50454	p.Glu106Ter	rs1272147228	stop gained	-	NC_000011.10:g.75566665G>T	TOPMed
SERPINH1	P50454	p.Glu106Val	rs1219793193	missense variant	-	NC_000011.10:g.75566666A>T	TOPMed
SERPINH1	P50454	p.Glu106Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566665G>A	NCI-TCGA
SERPINH1	P50454	p.Val107Met	rs745963767	missense variant	-	NC_000011.10:g.75566668G>A	ExAC,gnomAD
SERPINH1	P50454	p.Val107Leu	rs745963767	missense variant	-	NC_000011.10:g.75566668G>T	ExAC,gnomAD
SERPINH1	P50454	p.His108Arg	rs1159264267	missense variant	-	NC_000011.10:g.75566672A>G	gnomAD
SERPINH1	P50454	p.His108Gln	rs1374924761	missense variant	-	NC_000011.10:g.75566673C>A	gnomAD
SERPINH1	P50454	p.Ala109Gly	rs148959638	missense variant	-	NC_000011.10:g.75566675C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly110Asp	rs1356511928	missense variant	-	NC_000011.10:g.75566678G>A	gnomAD
SERPINH1	P50454	p.Leu111Met	rs527346653	missense variant	-	NC_000011.10:g.75566680C>A	1000Genomes
SERPINH1	P50454	p.Glu113Ala	rs1403321240	missense variant	-	NC_000011.10:g.75566687A>C	TOPMed
SERPINH1	P50454	p.Glu113Asp	rs763945752	missense variant	-	NC_000011.10:g.75566688G>C	ExAC,gnomAD
SERPINH1	P50454	p.Leu115Gln	rs1208295704	missense variant	-	NC_000011.10:g.75566693T>A	gnomAD
SERPINH1	P50454	p.Arg116His	rs755675475	missense variant	-	NC_000011.10:g.75566696G>A	ExAC,TOPMed
SERPINH1	P50454	p.Arg116Leu	rs755675475	missense variant	-	NC_000011.10:g.75566696G>T	ExAC,TOPMed
SERPINH1	P50454	p.Arg116Ser	RCV000344667	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566695C>A	ClinVar
SERPINH1	P50454	p.Arg116Cys	rs200265134	missense variant	-	NC_000011.10:g.75566695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg116Ser	rs200265134	missense variant	-	NC_000011.10:g.75566695C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser117Ter	rs571009837	stop gained	-	NC_000011.10:g.75566699C>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser117Leu	rs571009837	missense variant	-	NC_000011.10:g.75566699C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu118Ile	rs778098631	missense variant	-	NC_000011.10:g.75566701C>A	ExAC
SERPINH1	P50454	p.Ser119Thr	rs893319673	missense variant	-	NC_000011.10:g.75566705G>C	TOPMed
SERPINH1	P50454	p.Ser119Gly	rs751987057	missense variant	-	NC_000011.10:g.75566704A>G	ExAC
SERPINH1	P50454	p.Asn120ThrTerUnk	rs1420882595	stop gained	-	NC_000011.10:g.75566707_75566708insCGTGA	gnomAD
SERPINH1	P50454	p.Asn120Ser	rs757694413	missense variant	-	NC_000011.10:g.75566708A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser121Phe	rs1175794090	missense variant	-	NC_000011.10:g.75566711C>T	gnomAD
SERPINH1	P50454	p.Ser121Ala	rs781727997	missense variant	-	NC_000011.10:g.75566710T>G	ExAC,gnomAD
SERPINH1	P50454	p.Thr122Met	rs769945594	missense variant	-	NC_000011.10:g.75566714C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala123Ser	rs749500041	missense variant	-	NC_000011.10:g.75566716G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala123Val	rs769054443	missense variant	-	NC_000011.10:g.75566717C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala123Glu	rs769054443	missense variant	-	NC_000011.10:g.75566717C>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg124Pro	rs761716222	missense variant	-	NC_000011.10:g.75566720G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg124Leu	rs761716222	missense variant	-	NC_000011.10:g.75566720G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg124GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.75566716_75566717GC>-	NCI-TCGA
SERPINH1	P50454	p.Asn125Ser	rs1313938366	missense variant	-	NC_000011.10:g.75566723A>G	TOPMed
SERPINH1	P50454	p.Asn125Lys	rs772088561	missense variant	-	NC_000011.10:g.75566724C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val126Met	COSM932000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75566725G>A	NCI-TCGA Cosmic
SERPINH1	P50454	p.Arg133Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566747G>A	NCI-TCGA
SERPINH1	P50454	p.Arg133Ter	rs753347871	stop gained	-	NC_000011.10:g.75566746C>T	ExAC,gnomAD
SERPINH1	P50454	p.Leu134Pro	rs1196316160	missense variant	-	NC_000011.10:g.75566750T>C	TOPMed,gnomAD
SERPINH1	P50454	p.Tyr135Ter	rs1036013353	stop gained	-	NC_000011.10:g.75566754C>G	TOPMed
SERPINH1	P50454	p.Gly136Arg	rs759183941	missense variant	-	NC_000011.10:g.75566755G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly136Arg	rs759183941	missense variant	-	NC_000011.10:g.75566755G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro137Ala	rs764873239	missense variant	-	NC_000011.10:g.75566758C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro137Leu	rs1395736008	missense variant	-	NC_000011.10:g.75566759C>T	gnomAD
SERPINH1	P50454	p.Ser138Arg	rs751862278	missense variant	-	NC_000011.10:g.75566763C>A	ExAC,gnomAD
SERPINH1	P50454	p.Ser139Leu	rs757639350	missense variant	-	NC_000011.10:g.75566765C>T	ExAC,gnomAD
SERPINH1	P50454	p.Val140Leu	rs148088085	missense variant	-	NC_000011.10:g.75566767G>C	ESP
SERPINH1	P50454	p.Phe142Leu	rs371660937	missense variant	-	NC_000011.10:g.75566775C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Phe142Leu	rs781508942	missense variant	-	NC_000011.10:g.75566773T>C	ExAC,gnomAD
SERPINH1	P50454	p.Ala143Thr	rs1325858555	missense variant	-	NC_000011.10:g.75566776G>A	gnomAD
SERPINH1	P50454	p.Asp144Gly	rs1392852377	missense variant	-	NC_000011.10:g.75566780A>G	gnomAD
SERPINH1	P50454	p.Asp145Glu	rs756623619	missense variant	-	NC_000011.10:g.75566784C>A	ExAC,gnomAD
SERPINH1	P50454	p.Asp145Asn	rs1443721076	missense variant	-	NC_000011.10:g.75566782G>A	gnomAD
SERPINH1	P50454	p.Phe146Leu	rs972547822	missense variant	-	NC_000011.10:g.75566785T>C	TOPMed
SERPINH1	P50454	p.Val147Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566789T>A	NCI-TCGA
SERPINH1	P50454	p.Arg148Ser	rs61736330	missense variant	-	NC_000011.10:g.75566791C>A	gnomAD
SERPINH1	P50454	p.Arg148Cys	rs61736330	missense variant	-	NC_000011.10:g.75566791C>T	gnomAD
SERPINH1	P50454	p.Arg148His	rs1266438725	missense variant	-	NC_000011.10:g.75566792G>A	gnomAD
SERPINH1	P50454	p.Ser149Gly	rs780165606	missense variant	-	NC_000011.10:g.75566794A>G	ExAC,gnomAD
SERPINH1	P50454	p.Lys151Arg	rs749386696	missense variant	-	NC_000011.10:g.75566801A>G	ExAC,gnomAD
SERPINH1	P50454	p.Gln152Arg	rs768946201	missense variant	-	NC_000011.10:g.75566804A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.His153Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566808C>A	NCI-TCGA
SERPINH1	P50454	p.His153Gln	rs1467115947	missense variant	-	NC_000011.10:g.75566808C>G	gnomAD
SERPINH1	P50454	p.His153Asn	rs1272289174	missense variant	-	NC_000011.10:g.75566806C>A	gnomAD
SERPINH1	P50454	p.His153Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566806C>T	NCI-TCGA
SERPINH1	P50454	p.Asn155Ser	rs747915459	missense variant	-	NC_000011.10:g.75566813A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Cys156Trp	rs1485550302	missense variant	-	NC_000011.10:g.75566817C>G	gnomAD
SERPINH1	P50454	p.Glu157Gly	rs1417004600	missense variant	-	NC_000011.10:g.75566819A>G	TOPMed
SERPINH1	P50454	p.Glu157Lys	rs1011028573	missense variant	-	NC_000011.10:g.75566818G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu157Gln	rs1011028573	missense variant	-	NC_000011.10:g.75566818G>C	TOPMed,gnomAD
SERPINH1	P50454	p.His158Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566822A>C	NCI-TCGA
SERPINH1	P50454	p.Ser159Phe	rs771963597	missense variant	-	NC_000011.10:g.75566825C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys160Arg	rs1429500698	missense variant	-	NC_000011.10:g.75566828A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Lys160Asn	RCV000309167	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566829G>C	ClinVar
SERPINH1	P50454	p.Lys160Asn	rs886048661	missense variant	-	NC_000011.10:g.75566829G>C	TOPMed
SERPINH1	P50454	p.Ile161Leu	RCV000359789	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566830A>C	ClinVar
SERPINH1	P50454	p.Ile161Leu	rs112083274	missense variant	-	NC_000011.10:g.75566830A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn162Ser	rs760648204	missense variant	-	NC_000011.10:g.75566834A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn162Lys	rs770842307	missense variant	-	NC_000011.10:g.75566835C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn162Lys	RCV000402192	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566835C>G	ClinVar
SERPINH1	P50454	p.Arg164Cys	rs776140347	missense variant	-	NC_000011.10:g.75566839C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp165Asn	COSM2018052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75566842G>A	NCI-TCGA Cosmic
SERPINH1	P50454	p.Arg167His	rs762631686	missense variant	-	NC_000011.10:g.75566849G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg167Ser	rs764819709	missense variant	-	NC_000011.10:g.75566848C>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg167Cys	rs764819709	missense variant	-	NC_000011.10:g.75566848C>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala169Val	rs750807661	missense variant	-	NC_000011.10:g.75566855C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala169Thr	rs767898808	missense variant	-	NC_000011.10:g.75566854G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gln171Ter	rs1290424266	stop gained	-	NC_000011.10:g.75566860C>T	gnomAD
SERPINH1	P50454	p.Gln171Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566861A>T	NCI-TCGA
SERPINH1	P50454	p.Asn174Lys	rs1018770051	missense variant	-	NC_000011.10:g.75566871C>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu175Ter	rs766813083	stop gained	-	NC_000011.10:g.75566872G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu175Gln	rs766813083	missense variant	-	NC_000011.10:g.75566872G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu175Lys	rs766813083	missense variant	-	NC_000011.10:g.75566872G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala178Thr	rs753922805	missense variant	-	NC_000011.10:g.75566881G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala178Ser	rs753922805	missense variant	-	NC_000011.10:g.75566881G>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala178Val	rs755143041	missense variant	-	NC_000011.10:g.75566882C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly183Ser	rs758606932	missense variant	-	NC_000011.10:g.75566896G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly183Asp	rs1156365701	missense variant	-	NC_000011.10:g.75566897G>A	gnomAD
SERPINH1	P50454	p.Gly183Arg	rs758606932	missense variant	-	NC_000011.10:g.75566896G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys184Asn	rs1346453724	missense variant	-	NC_000011.10:g.75566901G>T	gnomAD
SERPINH1	P50454	p.Thr189Ala	RCV000506069	missense variant	-	NC_000011.10:g.75566914A>G	ClinVar
SERPINH1	P50454	p.Thr189Ser	rs1416351184	missense variant	-	NC_000011.10:g.75566915C>G	gnomAD
SERPINH1	P50454	p.Thr189Ser	rs138784081	missense variant	-	NC_000011.10:g.75566914A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Thr189Ala	rs138784081	missense variant	-	NC_000011.10:g.75566914A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys190Met	rs1389377935	missense variant	-	NC_000011.10:g.75566918A>T	gnomAD
SERPINH1	P50454	p.Asp191His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566920G>C	NCI-TCGA
SERPINH1	P50454	p.Asp191Gly	rs1221970463	missense variant	-	NC_000011.10:g.75566921A>G	gnomAD
SERPINH1	P50454	p.Asp191Glu	rs745340617	missense variant	-	NC_000011.10:g.75566922C>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp191Asn	rs1349927093	missense variant	-	NC_000011.10:g.75566920G>A	gnomAD
SERPINH1	P50454	p.Asp191Glu	RCV000360883	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566922C>A	ClinVar
SERPINH1	P50454	p.Val192Gly	rs769259507	missense variant	-	NC_000011.10:g.75566924T>G	ExAC,gnomAD
SERPINH1	P50454	p.Val192Ala	rs769259507	missense variant	-	NC_000011.10:g.75566924T>C	ExAC,gnomAD
SERPINH1	P50454	p.Glu193Asp	RCV000175692	missense variant	-	NC_000011.10:g.75566928G>C	ClinVar
SERPINH1	P50454	p.GluArg193AspSer	rs797044674	missense variant	-	NC_000011.10:g.75566928_75566929delinsCA	-
SERPINH1	P50454	p.Glu193Ala	rs775027601	missense variant	-	NC_000011.10:g.75566927A>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu193Asp	rs559687602	missense variant	-	NC_000011.10:g.75566928G>C	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu193AspSer	RCV000175689	missense variant	-	NC_000011.10:g.75566928_75566929delinsCA	ClinVar
SERPINH1	P50454	p.Arg194Ser	rs141721173	missense variant	-	NC_000011.10:g.75566929C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg194Ser	RCV000175693	missense variant	-	NC_000011.10:g.75566929C>A	ClinVar
SERPINH1	P50454	p.Arg194Ser	RCV000763776	missense variant	Preterm premature rupture of membranes (PPROM)	NC_000011.10:g.75566929C>A	ClinVar
SERPINH1	P50454	p.Arg194Cys	rs141721173	missense variant	-	NC_000011.10:g.75566929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg194Ser	RCV000261310	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566929C>A	ClinVar
SERPINH1	P50454	p.Thr195Met	COSM3967837	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75566933C>T	NCI-TCGA Cosmic
SERPINH1	P50454	p.Asp196Glu	rs1232634716	missense variant	-	NC_000011.10:g.75566937C>A	gnomAD
SERPINH1	P50454	p.Gly197Arg	rs766872022	missense variant	-	NC_000011.10:g.75566938G>C	ExAC,gnomAD
SERPINH1	P50454	p.Gly197Cys	rs766872022	missense variant	-	NC_000011.10:g.75566938G>T	ExAC,gnomAD
SERPINH1	P50454	p.Gly197Val	rs755592285	missense variant	-	NC_000011.10:g.75566939G>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala198Thr	rs908092360	missense variant	-	NC_000011.10:g.75566941G>A	gnomAD
SERPINH1	P50454	p.Asn202Lys	rs1245712905	missense variant	-	NC_000011.10:g.75566955C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Met204Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75566959A>G	NCI-TCGA
SERPINH1	P50454	p.Phe205Val	rs777869458	missense variant	-	NC_000011.10:g.75566962T>G	ExAC,gnomAD
SERPINH1	P50454	p.Phe206Leu	rs1377787259	missense variant	-	NC_000011.10:g.75566967C>A	gnomAD
SERPINH1	P50454	p.Pro208Ser	rs746767763	missense variant	-	NC_000011.10:g.75566971C>T	ExAC,gnomAD
SERPINH1	P50454	p.His209Gln	rs569867446	missense variant	-	NC_000011.10:g.75568735C>G	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.His209Tyr	rs755976024	missense variant	-	NC_000011.10:g.75568733C>T	ExAC,gnomAD
SERPINH1	P50454	p.His216Pro	rs1300712632	missense variant	-	NC_000011.10:g.75568755A>C	TOPMed
SERPINH1	P50454	p.Lys217Asn	rs1323744768	missense variant	-	NC_000011.10:g.75568759G>T	TOPMed,gnomAD
SERPINH1	P50454	p.Met218Val	rs1396795405	missense variant	-	NC_000011.10:g.75568760A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Val219Met	rs1387383541	missense variant	-	NC_000011.10:g.75568763G>A	gnomAD
SERPINH1	P50454	p.Val219Ala	rs1159867029	missense variant	-	NC_000011.10:g.75568764T>C	TOPMed
SERPINH1	P50454	p.Asn221Asp	rs778537327	missense variant	-	NC_000011.10:g.75568769A>G	ExAC,gnomAD
SERPINH1	P50454	p.Asn221Tyr	rs778537327	missense variant	-	NC_000011.10:g.75568769A>T	ExAC,gnomAD
SERPINH1	P50454	p.Arg222Cys	rs747743316	missense variant	-	NC_000011.10:g.75568772C>T	ExAC,gnomAD
SERPINH1	P50454	p.Arg222His	rs771916875	missense variant	-	NC_000011.10:g.75568773G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg222Ser	rs747743316	missense variant	-	NC_000011.10:g.75568772C>A	ExAC,gnomAD
SERPINH1	P50454	p.Met225Val	rs928526391	missense variant	-	NC_000011.10:g.75568781A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Val226Met	rs1275556617	missense variant	-	NC_000011.10:g.75568784G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Arg228Gln	rs759994312	missense variant	-	NC_000011.10:g.75568791G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg228Pro	rs759994312	missense variant	-	NC_000011.10:g.75568791G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser229Phe	COSM3453362	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75568794C>T	NCI-TCGA Cosmic
SERPINH1	P50454	p.Tyr230Cys	rs1260400078	missense variant	-	NC_000011.10:g.75568797A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Thr231Ile	rs1218823155	missense variant	-	NC_000011.10:g.75568800C>T	TOPMed
SERPINH1	P50454	p.Val232Gly	rs763555596	missense variant	-	NC_000011.10:g.75568803T>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val232Met	rs534696801	missense variant	-	NC_000011.10:g.75568802G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gly233Asp	rs1162741198	missense variant	-	NC_000011.10:g.75568806G>A	gnomAD
SERPINH1	P50454	p.Met235Ile	rs764058290	missense variant	-	NC_000011.10:g.75568813G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met235Thr	COSM4940625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75568812T>C	NCI-TCGA Cosmic
SERPINH1	P50454	p.Met235Ile	rs764058290	missense variant	-	NC_000011.10:g.75568813G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met237Thr	rs886039819	missense variant	-	NC_000011.10:g.75568818T>C	-
SERPINH1	P50454	p.Met237Ile	rs1458326459	missense variant	-	NC_000011.10:g.75568819G>A	gnomAD
SERPINH1	P50454	p.Met237Thr	RCV000256253	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75568818T>C	ClinVar
SERPINH1	P50454	p.His238Gln	rs761932276	missense variant	-	NC_000011.10:g.75568822C>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg239Leu	rs750157727	missense variant	-	NC_000011.10:g.75568824G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg239Trp	rs767729275	missense variant	-	NC_000011.10:g.75568823C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg239Gln	rs750157727	missense variant	-	NC_000011.10:g.75568824G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg239Leu	RCV000376278	missense variant	-	NC_000011.10:g.75568824G>T	ClinVar
SERPINH1	P50454	p.Gly241Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75568939G>A	NCI-TCGA
SERPINH1	P50454	p.Gly241Val	rs767688879	missense variant	-	NC_000011.10:g.75568939G>T	ExAC,gnomAD
SERPINH1	P50454	p.Leu242Phe	rs1195158034	missense variant	-	NC_000011.10:g.75568941C>T	gnomAD
SERPINH1	P50454	p.Asn244Thr	rs773393677	missense variant	-	NC_000011.10:g.75568948A>C	ExAC,gnomAD
SERPINH1	P50454	p.Asn244Ser	rs773393677	missense variant	-	NC_000011.10:g.75568948A>G	ExAC,gnomAD
SERPINH1	P50454	p.Asp247Asn	rs753734711	missense variant	-	NC_000011.10:g.75568956G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp248His	rs765236669	missense variant	-	NC_000011.10:g.75568959G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp248Asn	rs765236669	missense variant	-	NC_000011.10:g.75568959G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu249Gln	rs1296984761	missense variant	-	NC_000011.10:g.75568962G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Glu249Asp	rs542837557	missense variant	-	NC_000011.10:g.75568964G>C	1000Genomes
SERPINH1	P50454	p.Glu249Gly	rs777463655	missense variant	-	NC_000011.10:g.75568963A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu249Lys	rs1296984761	missense variant	-	NC_000011.10:g.75568962G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu251Lys	rs553118941	missense variant	-	NC_000011.10:g.75568968G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu253Pro	rs1331519111	missense variant	-	NC_000011.10:g.75568975T>C	gnomAD
SERPINH1	P50454	p.Gln254Glu	rs757027235	missense variant	-	NC_000011.10:g.75568977C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val256Met	rs749664592	missense variant	-	NC_000011.10:g.75568983G>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu257Asp	rs1015978540	missense variant	-	NC_000011.10:g.75568988G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Glu257Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.75568986G>T	NCI-TCGA
SERPINH1	P50454	p.Met258Ile	rs1249374274	missense variant	-	NC_000011.10:g.75568991G>A	gnomAD
SERPINH1	P50454	p.Pro259Thr	rs1459090987	missense variant	-	NC_000011.10:g.75568992C>A	gnomAD
SERPINH1	P50454	p.Pro259Leu	rs768984519	missense variant	-	NC_000011.10:g.75568993C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu260Val	rs774942194	missense variant	-	NC_000011.10:g.75568995C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala261Gly	rs201644679	missense variant	-	NC_000011.10:g.75568999C>G	1000Genomes,TOPMed
SERPINH1	P50454	p.Ala261Thr	rs748697715	missense variant	-	NC_000011.10:g.75568998G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu264Phe	rs1302597191	missense variant	-	NC_000011.10:g.75569007C>T	gnomAD
SERPINH1	P50454	p.Ser265Pro	rs1426078525	missense variant	-	NC_000011.10:g.75569010T>C	gnomAD
SERPINH1	P50454	p.Ser266Thr	rs772119590	missense variant	-	NC_000011.10:g.75569014G>C	ExAC,gnomAD
SERPINH1	P50454	p.Ile268Thr	rs887118799	missense variant	-	NC_000011.10:g.75569020T>C	TOPMed
SERPINH1	P50454	p.Val275Met	rs199679249	missense variant	-	NC_000011.10:g.75569040G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val275Met	RCV000326079	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75569040G>A	ClinVar
SERPINH1	P50454	p.Val275Leu	rs199679249	missense variant	-	NC_000011.10:g.75569040G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu276Ala	RCV000757757	missense variant	-	NC_000011.10:g.75569044A>C	ClinVar
SERPINH1	P50454	p.Glu276Ala	rs148613550	missense variant	-	NC_000011.10:g.75569044A>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu276Lys	rs776233451	missense variant	-	NC_000011.10:g.75569043G>A	ExAC,gnomAD
SERPINH1	P50454	p.Pro277His	rs1276134932	missense variant	-	NC_000011.10:g.75569047C>A	gnomAD
SERPINH1	P50454	p.Pro277Thr	rs765044030	missense variant	-	NC_000011.10:g.75569046C>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu279Lys	rs758458147	missense variant	-	NC_000011.10:g.75569052G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu279Gln	rs758458147	missense variant	-	NC_000011.10:g.75569052G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg280Cys	rs200572997	missense variant	-	NC_000011.10:g.75569055C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg280Ser	rs200572997	missense variant	-	NC_000011.10:g.75569055C>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg280His	rs370057420	missense variant	-	NC_000011.10:g.75569056G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu281Phe	rs1379043592	missense variant	-	NC_000011.10:g.75569058C>T	TOPMed
SERPINH1	P50454	p.Leu281Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75569058C>A	NCI-TCGA
SERPINH1	P50454	p.Glu282Lys	rs755341831	missense variant	-	NC_000011.10:g.75569061G>A	ExAC
SERPINH1	P50454	p.Lys287Glu	rs1265806916	missense variant	-	NC_000011.10:g.75569076A>G	gnomAD
SERPINH1	P50454	p.Lys287Gln	rs1265806916	missense variant	-	NC_000011.10:g.75569076A>C	gnomAD
SERPINH1	P50454	p.Glu288Lys	rs369751579	missense variant	-	NC_000011.10:g.75569079G>A	ExAC,gnomAD
SERPINH1	P50454	p.Lys291Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75569090G>T	NCI-TCGA
SERPINH1	P50454	p.Ile292Met	rs771012011	missense variant	-	NC_000011.10:g.75569093C>G	ExAC,gnomAD
SERPINH1	P50454	p.Trp293Arg	rs776944994	missense variant	-	NC_000011.10:g.75569094T>C	ExAC,TOPMed
SERPINH1	P50454	p.Met294Ile	rs759715144	missense variant	-	NC_000011.10:g.75569099G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gly295Arg	rs1452624175	missense variant	-	NC_000011.10:g.75569100G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Gly295Arg	rs1452624175	missense variant	-	NC_000011.10:g.75569100G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Met297Ile	rs200106884	missense variant	-	NC_000011.10:g.75569108G>A	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Met297Ile	rs200106884	missense variant	-	NC_000011.10:g.75569108G>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Lys300Arg	rs1173430313	missense variant	-	NC_000011.10:g.75569116A>G	TOPMed
SERPINH1	P50454	p.Ala301Gly	rs764127543	missense variant	-	NC_000011.10:g.75569119C>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala303Thr	rs751052033	missense variant	-	NC_000011.10:g.75569124G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ser305Cys	rs767034212	missense variant	-	NC_000011.10:g.75569131C>G	ExAC,gnomAD
SERPINH1	P50454	p.Ser305Pro	rs549207386	missense variant	-	NC_000011.10:g.75569130T>C	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Leu306Ter	RCV000778338	frameshift	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75569135del	ClinVar
SERPINH1	P50454	p.Lys308Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75569139A>G	NCI-TCGA
SERPINH1	P50454	p.Lys308Arg	rs142663000	missense variant	-	NC_000011.10:g.75569140A>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly309Cys	rs779248122	missense variant	-	NC_000011.10:g.75569142G>T	ExAC,gnomAD
SERPINH1	P50454	p.Gly309Val	rs753068848	missense variant	-	NC_000011.10:g.75569143G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly309Asp	rs753068848	missense variant	-	NC_000011.10:g.75569143G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val311Leu	rs1474093032	missense variant	-	NC_000011.10:g.75569148G>T	gnomAD
SERPINH1	P50454	p.Glu312Lys	rs1413894809	missense variant	-	NC_000011.10:g.75569151G>A	gnomAD
SERPINH1	P50454	p.Thr314Ile	rs747053861	missense variant	-	NC_000011.10:g.75569158C>T	ExAC,gnomAD
SERPINH1	P50454	p.Gln318Ter	rs1440784485	stop gained	-	NC_000011.10:g.75569169C>T	TOPMed
SERPINH1	P50454	p.Leu321Pro	COSM932003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571788T>C	NCI-TCGA Cosmic
SERPINH1	P50454	p.Leu321Ter	RCV000343835	frameshift	-	NC_000011.10:g.75571787del	ClinVar
SERPINH1	P50454	p.Ala322Thr	rs781326376	missense variant	-	NC_000011.10:g.75571790G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gly323Glu	rs144791057	missense variant	-	NC_000011.10:g.75571794G>A	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu324Met	rs1437455313	missense variant	-	NC_000011.10:g.75571796C>A	gnomAD
SERPINH1	P50454	p.Leu326Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75571803T>G	NCI-TCGA
SERPINH1	P50454	p.Leu326Val	rs1270038150	missense variant	-	NC_000011.10:g.75571802C>G	gnomAD
SERPINH1	P50454	p.Thr327Ala	rs780442561	missense variant	-	NC_000011.10:g.75571805A>G	ExAC,gnomAD
SERPINH1	P50454	p.Glu328Lys	rs749048421	missense variant	-	NC_000011.10:g.75571808G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala329Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75571811G>A	NCI-TCGA
SERPINH1	P50454	p.Ile330Val	COSM3453365	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571814A>G	NCI-TCGA Cosmic
SERPINH1	P50454	p.Asp331Glu	rs774348484	missense variant	-	NC_000011.10:g.75571819C>A	ExAC,gnomAD
SERPINH1	P50454	p.Lys332Glu	rs1208775353	missense variant	-	NC_000011.10:g.75571820A>G	gnomAD
SERPINH1	P50454	p.Lys332Asn	rs147936395	missense variant	-	NC_000011.10:g.75571822G>C	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Asp336Asn	rs771911618	missense variant	-	NC_000011.10:g.75571832G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser338Pro	rs995057062	missense variant	-	NC_000011.10:g.75571838T>C	TOPMed
SERPINH1	P50454	p.Arg339His	RCV000346063	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75571842G>A	ClinVar
SERPINH1	P50454	p.Arg339Cys	rs760125834	missense variant	-	NC_000011.10:g.75571841C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg339His	rs535510332	missense variant	-	NC_000011.10:g.75571842G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg339Leu	rs535510332	missense variant	-	NC_000011.10:g.75571842G>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met340Val	rs899357876	missense variant	-	NC_000011.10:g.75571844A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Met340Ile	rs201416803	missense variant	-	NC_000011.10:g.75571846G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys343Thr	COSM4403879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571854A>C	NCI-TCGA Cosmic
SERPINH1	P50454	p.Leu348Val	rs757716271	missense variant	-	NC_000011.10:g.75571868C>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala349Asp	rs1317813949	missense variant	-	NC_000011.10:g.75571872C>A	gnomAD
SERPINH1	P50454	p.Ser350Thr	rs150431930	missense variant	-	NC_000011.10:g.75571875G>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val351Met	rs368336245	missense variant	-	NC_000011.10:g.75571877G>A	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val351Met	RCV000178839	missense variant	-	NC_000011.10:g.75571877G>A	ClinVar
SERPINH1	P50454	p.Phe352Tyr	rs1355427520	missense variant	-	NC_000011.10:g.75571881T>A	gnomAD
SERPINH1	P50454	p.His353Arg	rs780318111	missense variant	-	NC_000011.10:g.75571884A>G	ExAC,gnomAD
SERPINH1	P50454	p.His353Asn	COSM1357004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571883C>A	NCI-TCGA Cosmic
SERPINH1	P50454	p.Ala354Val	rs1210096447	missense variant	-	NC_000011.10:g.75571887C>T	TOPMed,gnomAD
SERPINH1	P50454	p.Ala354Thr	rs369550626	missense variant	-	NC_000011.10:g.75571886G>A	ESP,ExAC,gnomAD
SERPINH1	P50454	p.Ala354Gly	rs1210096447	missense variant	-	NC_000011.10:g.75571887C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Ala356Thr	rs747912977	missense variant	-	NC_000011.10:g.75571892G>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu358Gln	COSM1298620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571898G>C	NCI-TCGA Cosmic
SERPINH1	P50454	p.Leu359Phe	rs771997683	missense variant	-	NC_000011.10:g.75571903G>C	ExAC,gnomAD
SERPINH1	P50454	p.Asp360Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75571905A>G	NCI-TCGA
SERPINH1	P50454	p.Asp362His	rs1202285973	missense variant	-	NC_000011.10:g.75571910G>C	TOPMed
SERPINH1	P50454	p.Asp362Glu	rs1268337790	missense variant	-	NC_000011.10:g.75571912T>A	gnomAD
SERPINH1	P50454	p.Asn364Lys	rs1263626738	missense variant	-	NC_000011.10:g.75571918C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Pro365Leu	rs574281910	missense variant	-	NC_000011.10:g.75571920C>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Phe366Ser	rs747009311	missense variant	-	NC_000011.10:g.75571923T>C	ExAC,gnomAD
SERPINH1	P50454	p.Gln368Ter	COSM3967838	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.75571928C>T	NCI-TCGA Cosmic
SERPINH1	P50454	p.Ile370Thr	rs758312076	missense variant	-	NC_000011.10:g.75571935T>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly372Arg	rs200180052	missense variant	-	NC_000011.10:g.75571940G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg373Pro	COSM690662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571944G>C	NCI-TCGA Cosmic
SERPINH1	P50454	p.Arg373His	rs774719472	missense variant	-	NC_000011.10:g.75571944G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg373Cys	rs764873155	missense variant	-	NC_000011.10:g.75571943C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu374Lys	rs768025277	missense variant	-	NC_000011.10:g.75571946G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu374Asp	rs750860974	missense variant	-	NC_000011.10:g.75571948G>C	ExAC,gnomAD
SERPINH1	P50454	p.Glu375Ter	rs577035420	stop gained	-	NC_000011.10:g.75571949G>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Glu375Val	rs545800102	missense variant	-	NC_000011.10:g.75571950A>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Glu375Lys	rs577035420	missense variant	-	NC_000011.10:g.75571949G>A	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Glu375Asp	rs562306544	missense variant	-	NC_000011.10:g.75571951G>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Arg377His	rs779029499	missense variant	-	NC_000011.10:g.75571956G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg377Cys	rs576211302	missense variant	-	NC_000011.10:g.75571955C>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Lys380Gln	rs935830138	missense variant	-	NC_000011.10:g.75571964A>C	TOPMed,gnomAD
SERPINH1	P50454	p.Lys380Arg	rs758098270	missense variant	-	NC_000011.10:g.75571965A>G	ExAC,TOPMed
SERPINH1	P50454	p.Leu381Val	rs1258116556	missense variant	-	NC_000011.10:g.75571967C>G	gnomAD
SERPINH1	P50454	p.Phe382Leu	COSM932005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.75571972C>A	NCI-TCGA Cosmic
SERPINH1	P50454	p.Tyr383Asn	rs746933828	missense variant	-	NC_000011.10:g.75571973T>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala384Thr	rs200974428	missense variant	-	NC_000011.10:g.75571976G>A	ExAC,gnomAD
SERPINH1	P50454	p.Pro387Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75571985C>T	NCI-TCGA
SERPINH1	P50454	p.Ile389Val	rs775032765	missense variant	-	NC_000011.10:g.75571991A>G	ExAC,gnomAD
SERPINH1	P50454	p.Leu391Pro	rs1251965369	missense variant	-	NC_000011.10:g.75571998T>C	TOPMed
SERPINH1	P50454	p.Leu391Val	rs1403593010	missense variant	-	NC_000011.10:g.75571997C>G	gnomAD
SERPINH1	P50454	p.Arg393Trp	rs527863136	missense variant	-	NC_000011.10:g.75572003C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg393Gln	rs772299825	missense variant	-	NC_000011.10:g.75572004G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Thr395Ala	rs1448534764	missense variant	-	NC_000011.10:g.75572009A>G	gnomAD
SERPINH1	P50454	p.Thr395Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.75572010C>T	NCI-TCGA
SERPINH1	P50454	p.Gly398Ser	rs1045176937	missense variant	-	NC_000011.10:g.75572018G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Gly398Val	rs765402376	missense variant	-	NC_000011.10:g.75572019G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser399Phe	rs376520307	missense variant	-	NC_000011.10:g.75572022C>T	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Ser399Tyr	rs376520307	missense variant	-	NC_000011.10:g.75572022C>A	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Leu400Gln	rs943602399	missense variant	-	NC_000011.10:g.75572025T>A	gnomAD
SERPINH1	P50454	p.Leu400Pro	rs943602399	missense variant	-	NC_000011.10:g.75572025T>C	gnomAD
SERPINH1	P50454	p.Leu401Val	rs547644799	missense variant	-	NC_000011.10:g.75572027C>G	1000Genomes
SERPINH1	P50454	p.Ile403Thr	rs201566218	missense variant	-	NC_000011.10:g.75572034T>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ile403Val	rs758706956	missense variant	-	NC_000011.10:g.75572033A>G	ExAC,gnomAD
SERPINH1	P50454	p.Ile403Thr	RCV000377379	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75572034T>C	ClinVar
SERPINH1	P50454	p.Arg405His	rs781125078	missense variant	-	NC_000011.10:g.75572040G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg405Cys	rs757124438	missense variant	-	NC_000011.10:g.75572039C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg405His	RCV000656724	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75572040G>A	ClinVar
SERPINH1	P50454	p.Val407Leu	rs138241050	missense variant	-	NC_000011.10:g.75572045G>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg408Gln	rs371699925	missense variant	-	NC_000011.10:g.75572049G>A	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg408Trp	rs769154335	missense variant	-	NC_000011.10:g.75572048C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro409Ala	rs1448285880	missense variant	-	NC_000011.10:g.75572051C>G	gnomAD
SERPINH1	P50454	p.Lys410Glu	rs773655408	missense variant	-	NC_000011.10:g.75572054A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp412Ter	RCV000779627	nonsense	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75572059dup	ClinVar
SERPINH1	P50454	p.Asp412Glu	rs200334001	missense variant	-	NC_000011.10:g.75572062C>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp412Asn	rs761143786	missense variant	-	NC_000011.10:g.75572060G>A	ExAC,gnomAD
SERPINH1	P50454	p.Lys413Arg	rs777250907	missense variant	-	NC_000011.10:g.75572064A>G	ExAC,gnomAD
SERPINH1	P50454	p.Met414Thr	rs1345847003	missense variant	-	NC_000011.10:g.75572067T>C	gnomAD
SERPINH1	P50454	p.Arg415Gly	rs149137596	missense variant	-	NC_000011.10:g.75572069C>G	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Arg415Gln	rs760141322	missense variant	-	NC_000011.10:g.75572070G>A	ExAC,gnomAD
SERPINH1	P50454	p.Asp416Glu	rs145015985	missense variant	-	NC_000011.10:g.75572074C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu417Lys	rs1292850878	missense variant	-	NC_000011.10:g.75572075G>A	gnomAD
SERPINH1	P50454	p.Arg2His	rs776045465	missense variant	-	NC_000011.10:g.75566354G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg2Cys	rs1179959048	missense variant	-	NC_000011.10:g.75566353C>T	TOPMed
SERPINH1	P50454	p.Ser3Phe	rs763538958	missense variant	-	NC_000011.10:g.75566357C>T	ExAC,gnomAD
SERPINH1	P50454	p.Leu7Phe	rs764762999	missense variant	-	NC_000011.10:g.75566368C>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala9Thr	rs1243981635	missense variant	-	NC_000011.10:g.75566374G>A	gnomAD
SERPINH1	P50454	p.Phe10Ser	rs757293522	missense variant	-	NC_000011.10:g.75566378T>C	ExAC,gnomAD
SERPINH1	P50454	p.Phe10Val	rs751588882	missense variant	-	NC_000011.10:g.75566377T>G	ExAC,gnomAD
SERPINH1	P50454	p.Cys11Tyr	rs1411853245	missense variant	-	NC_000011.10:g.75566381G>A	gnomAD
SERPINH1	P50454	p.Leu13Gln	rs767726256	missense variant	-	NC_000011.10:g.75566387T>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu14Lys	rs750583954	missense variant	-	NC_000011.10:g.75566389G>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu14Gln	rs750583954	missense variant	-	NC_000011.10:g.75566389G>C	ExAC,gnomAD
SERPINH1	P50454	p.Ala16Val	rs779814242	missense variant	-	NC_000011.10:g.75566396C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala18Thr	rs749150631	missense variant	-	NC_000011.10:g.75566401G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala19Thr	rs778730843	missense variant	-	NC_000011.10:g.75566404G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala19Ser	rs778730843	missense variant	-	NC_000011.10:g.75566404G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu20Lys	rs200397594	missense variant	-	NC_000011.10:g.75566407G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro24Arg	rs1455685529	missense variant	-	NC_000011.10:g.75566420C>G	gnomAD
SERPINH1	P50454	p.Ala25Thr	rs775990446	missense variant	-	NC_000011.10:g.75566422G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala25Val	rs1008194909	missense variant	-	NC_000011.10:g.75566423C>T	TOPMed,gnomAD
SERPINH1	P50454	p.Ala27Thr	rs1255465997	missense variant	-	NC_000011.10:g.75566428G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Ala29Pro	rs1458579009	missense variant	-	NC_000011.10:g.75566434G>C	TOPMed
SERPINH1	P50454	p.Ala29Val	rs774738608	missense variant	-	NC_000011.10:g.75566435C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala29Gly	rs774738608	missense variant	-	NC_000011.10:g.75566435C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly31Ala	RCV000343777	missense variant	-	NC_000011.10:g.75566441G>C	ClinVar
SERPINH1	P50454	p.Gly31Ala	RCV000387403	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566441G>C	ClinVar
SERPINH1	P50454	p.Gly31Ala	rs140588417	missense variant	-	NC_000011.10:g.75566441G>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Thr32Ser	rs1346770501	missense variant	-	NC_000011.10:g.75566444C>G	gnomAD
SERPINH1	P50454	p.Ala33Ser	rs150061926	missense variant	-	NC_000011.10:g.75566446G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala33Pro	rs150061926	missense variant	-	NC_000011.10:g.75566446G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala33Val	rs754791521	missense variant	-	NC_000011.10:g.75566447C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu34Gln	rs1243031165	missense variant	-	NC_000011.10:g.75566449G>C	TOPMed
SERPINH1	P50454	p.Lys35Met	rs752546581	missense variant	-	NC_000011.10:g.75566453A>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro38Ser	rs1222845521	missense variant	-	NC_000011.10:g.75566461C>T	TOPMed
SERPINH1	P50454	p.Lys39Thr	rs777133890	missense variant	-	NC_000011.10:g.75566465A>C	ExAC
SERPINH1	P50454	p.Ala40Val	rs1281239903	missense variant	-	NC_000011.10:g.75566468C>T	gnomAD
SERPINH1	P50454	p.Thr42Lys	rs781002791	missense variant	-	NC_000011.10:g.75566474C>A	ExAC,gnomAD
SERPINH1	P50454	p.Leu43Val	rs768929258	missense variant	-	NC_000011.10:g.75566476C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu43Phe	rs768929258	missense variant	-	NC_000011.10:g.75566476C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala44Thr	rs995079770	missense variant	-	NC_000011.10:g.75566479G>A	-
SERPINH1	P50454	p.Ala44Gly	rs1381440814	missense variant	-	NC_000011.10:g.75566480C>G	TOPMed
SERPINH1	P50454	p.Ser47Ile	RCV000521163	missense variant	-	NC_000011.10:g.75566489_75566490delinsTT	ClinVar
SERPINH1	P50454	p.Ser47Gly	rs1251272276	missense variant	-	NC_000011.10:g.75566488A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Ser47Ile	rs1555025879	missense variant	-	NC_000011.10:g.75566489_75566490delinsTT	-
SERPINH1	P50454	p.Gly49Val	rs1362402134	missense variant	-	NC_000011.10:g.75566495G>T	TOPMed,gnomAD
SERPINH1	P50454	p.Leu50Gln	rs772706450	missense variant	-	NC_000011.10:g.75566498T>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala51Asp	rs1392780279	missense variant	-	NC_000011.10:g.75566501C>A	gnomAD
SERPINH1	P50454	p.Ala51Thr	rs1171329004	missense variant	-	NC_000011.10:g.75566500G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Phe52Leu	rs1435975435	missense variant	-	NC_000011.10:g.75566503T>C	TOPMed,gnomAD
SERPINH1	P50454	p.Ser53Asn	rs773211240	missense variant	-	NC_000011.10:g.75566507G>A	ExAC,gnomAD
SERPINH1	P50454	p.Leu54Val	rs540061657	missense variant	-	NC_000011.10:g.75566509T>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu54Phe	rs1407839158	missense variant	-	NC_000011.10:g.75566511G>T	gnomAD
SERPINH1	P50454	p.Gln56Ter	rs1330692923	stop gained	-	NC_000011.10:g.75566515C>T	gnomAD
SERPINH1	P50454	p.Gln56Arg	rs553519612	missense variant	-	NC_000011.10:g.75566516A>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met58Thr	rs764918894	missense variant	-	NC_000011.10:g.75566522T>C	ExAC,gnomAD
SERPINH1	P50454	p.Lys60Glu	rs752594307	missense variant	-	NC_000011.10:g.75566527A>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala63Glu	rs576480194	missense variant	-	NC_000011.10:g.75566537C>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala63Thr	rs758261919	missense variant	-	NC_000011.10:g.75566536G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala63Val	rs576480194	missense variant	-	NC_000011.10:g.75566537C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ile67Val	rs780947787	missense variant	-	NC_000011.10:g.75566548A>G	ExAC,gnomAD
SERPINH1	P50454	p.Val69Leu	rs755858302	missense variant	-	NC_000011.10:g.75566554G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser70Pro	rs1455213836	missense variant	-	NC_000011.10:g.75566557T>C	gnomAD
SERPINH1	P50454	p.Pro71Ser	rs779144412	missense variant	-	NC_000011.10:g.75566560C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro71Ala	rs779144412	missense variant	-	NC_000011.10:g.75566560C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val72Leu	rs868134687	missense variant	-	NC_000011.10:g.75566563G>T	gnomAD
SERPINH1	P50454	p.Val72Met	rs868134687	missense variant	-	NC_000011.10:g.75566563G>A	gnomAD
SERPINH1	P50454	p.Val74Leu	rs1404479835	missense variant	-	NC_000011.10:g.75566569G>T	gnomAD
SERPINH1	P50454	p.Ala75Val	rs1452549591	missense variant	-	NC_000011.10:g.75566573C>T	TOPMed
SERPINH1	P50454	p.Ser76Trp	rs376824871	missense variant	-	NC_000011.10:g.75566576C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser76Leu	rs376824871	missense variant	-	NC_000011.10:g.75566576C>T	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu78Pro	rs137853892	missense variant	-	NC_000011.10:g.75566582T>C	-
SERPINH1	P50454	p.Leu78Pro	rs137853892	missense variant	Osteogenesis imperfecta 10 (OI10)	NC_000011.10:g.75566582T>C	UniProt,dbSNP
SERPINH1	P50454	p.Leu78Pro	VAR_063602	missense variant	Osteogenesis imperfecta 10 (OI10)	NC_000011.10:g.75566582T>C	UniProt
SERPINH1	P50454	p.Leu78Pro	RCV000023052	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75566582T>C	ClinVar
SERPINH1	P50454	p.Gly79Trp	rs765561870	missense variant	-	NC_000011.10:g.75566584G>T	ExAC,gnomAD
SERPINH1	P50454	p.Val81Met	rs1246483844	missense variant	-	NC_000011.10:g.75566590G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Val81Leu	rs1246483844	missense variant	-	NC_000011.10:g.75566590G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Ser82Ala	rs751575798	missense variant	-	NC_000011.10:g.75566593T>G	ExAC,gnomAD
SERPINH1	P50454	p.Ser82Leu	rs1275419791	missense variant	-	NC_000011.10:g.75566594C>T	gnomAD
SERPINH1	P50454	p.Gly85Ser	rs1208647821	missense variant	-	NC_000011.10:g.75566602G>A	gnomAD
SERPINH1	P50454	p.Gly85Cys	rs1208647821	missense variant	-	NC_000011.10:g.75566602G>T	gnomAD
SERPINH1	P50454	p.Gly85Asp	rs1260506914	missense variant	-	NC_000011.10:g.75566603G>A	gnomAD
SERPINH1	P50454	p.Ala87Val	rs913843138	missense variant	-	NC_000011.10:g.75566609C>T	gnomAD
SERPINH1	P50454	p.Thr88Ile	rs1373248815	missense variant	-	NC_000011.10:g.75566612C>T	gnomAD
SERPINH1	P50454	p.Thr89Arg	rs1419722597	missense variant	-	NC_000011.10:g.75566615C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Thr89Met	rs1419722597	missense variant	-	NC_000011.10:g.75566615C>T	TOPMed,gnomAD
SERPINH1	P50454	p.Ser91Leu	rs750020039	missense variant	-	NC_000011.10:g.75566621C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala93Ser	rs1319259821	missense variant	-	NC_000011.10:g.75566626G>T	gnomAD
SERPINH1	P50454	p.Ala95Thr	rs1340041209	missense variant	-	NC_000011.10:g.75566632G>A	gnomAD
SERPINH1	P50454	p.Ser98Asn	rs541595707	missense variant	-	NC_000011.10:g.75566642G>A	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Ala99Gly	rs748414210	missense variant	-	NC_000011.10:g.75566645C>G	ExAC,TOPMed
SERPINH1	P50454	p.Ala99Thr	rs771330167	missense variant	-	NC_000011.10:g.75566644G>A	gnomAD
SERPINH1	P50454	p.Glu100Asp	rs1477630216	missense variant	-	NC_000011.10:g.75566649G>C	gnomAD
SERPINH1	P50454	p.Glu100Gln	rs749665611	missense variant	-	NC_000011.10:g.75566647G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu100Lys	rs749665611	missense variant	-	NC_000011.10:g.75566647G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu100Lys	RCV000403806	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566647G>A	ClinVar
SERPINH1	P50454	p.Gln101Arg	rs747493825	missense variant	-	NC_000011.10:g.75566651A>G	ExAC,gnomAD
SERPINH1	P50454	p.Leu102Gln	rs377583721	missense variant	-	NC_000011.10:g.75566654T>A	ESP,ExAC,gnomAD
SERPINH1	P50454	p.Arg103Cys	rs369290752	missense variant	-	NC_000011.10:g.75566656C>T	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Arg103His	rs1485163348	missense variant	-	NC_000011.10:g.75566657G>A	gnomAD
SERPINH1	P50454	p.Asp104Asn	rs1259422392	missense variant	-	NC_000011.10:g.75566659G>A	gnomAD
SERPINH1	P50454	p.Glu105Gly	rs1041020879	missense variant	-	NC_000011.10:g.75566663A>G	TOPMed
SERPINH1	P50454	p.Glu105Gln	rs376810317	missense variant	-	NC_000011.10:g.75566662G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Glu105Lys	rs376810317	missense variant	-	NC_000011.10:g.75566662G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu106Asp	rs561786753	missense variant	-	NC_000011.10:g.75566667G>C	1000Genomes,gnomAD
SERPINH1	P50454	p.Glu106Ter	rs1272147228	stop gained	-	NC_000011.10:g.75566665G>T	TOPMed
SERPINH1	P50454	p.Glu106Val	rs1219793193	missense variant	-	NC_000011.10:g.75566666A>T	TOPMed
SERPINH1	P50454	p.Val107Met	rs745963767	missense variant	-	NC_000011.10:g.75566668G>A	ExAC,gnomAD
SERPINH1	P50454	p.Val107Leu	rs745963767	missense variant	-	NC_000011.10:g.75566668G>T	ExAC,gnomAD
SERPINH1	P50454	p.His108Arg	rs1159264267	missense variant	-	NC_000011.10:g.75566672A>G	gnomAD
SERPINH1	P50454	p.His108Gln	rs1374924761	missense variant	-	NC_000011.10:g.75566673C>A	gnomAD
SERPINH1	P50454	p.Ala109Gly	rs148959638	missense variant	-	NC_000011.10:g.75566675C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly110Asp	rs1356511928	missense variant	-	NC_000011.10:g.75566678G>A	gnomAD
SERPINH1	P50454	p.Leu111Met	rs527346653	missense variant	-	NC_000011.10:g.75566680C>A	1000Genomes
SERPINH1	P50454	p.Glu113Ala	rs1403321240	missense variant	-	NC_000011.10:g.75566687A>C	TOPMed
SERPINH1	P50454	p.Glu113Asp	rs763945752	missense variant	-	NC_000011.10:g.75566688G>C	ExAC,gnomAD
SERPINH1	P50454	p.Leu115Gln	rs1208295704	missense variant	-	NC_000011.10:g.75566693T>A	gnomAD
SERPINH1	P50454	p.Arg116His	rs755675475	missense variant	-	NC_000011.10:g.75566696G>A	ExAC,TOPMed
SERPINH1	P50454	p.Arg116Leu	rs755675475	missense variant	-	NC_000011.10:g.75566696G>T	ExAC,TOPMed
SERPINH1	P50454	p.Arg116Ser	RCV000344667	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566695C>A	ClinVar
SERPINH1	P50454	p.Arg116Ser	rs200265134	missense variant	-	NC_000011.10:g.75566695C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg116Cys	rs200265134	missense variant	-	NC_000011.10:g.75566695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser117Ter	rs571009837	stop gained	-	NC_000011.10:g.75566699C>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser117Leu	rs571009837	missense variant	-	NC_000011.10:g.75566699C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu118Ile	rs778098631	missense variant	-	NC_000011.10:g.75566701C>A	ExAC
SERPINH1	P50454	p.Ser119Thr	rs893319673	missense variant	-	NC_000011.10:g.75566705G>C	TOPMed
SERPINH1	P50454	p.Ser119Gly	rs751987057	missense variant	-	NC_000011.10:g.75566704A>G	ExAC
SERPINH1	P50454	p.Asn120ThrTerUnk	rs1420882595	stop gained	-	NC_000011.10:g.75566707_75566708insCGTGA	gnomAD
SERPINH1	P50454	p.Asn120Ser	rs757694413	missense variant	-	NC_000011.10:g.75566708A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser121Phe	rs1175794090	missense variant	-	NC_000011.10:g.75566711C>T	gnomAD
SERPINH1	P50454	p.Ser121Ala	rs781727997	missense variant	-	NC_000011.10:g.75566710T>G	ExAC,gnomAD
SERPINH1	P50454	p.Thr122Met	rs769945594	missense variant	-	NC_000011.10:g.75566714C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala123Ser	rs749500041	missense variant	-	NC_000011.10:g.75566716G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala123Val	rs769054443	missense variant	-	NC_000011.10:g.75566717C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala123Glu	rs769054443	missense variant	-	NC_000011.10:g.75566717C>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg124Pro	rs761716222	missense variant	-	NC_000011.10:g.75566720G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg124Leu	rs761716222	missense variant	-	NC_000011.10:g.75566720G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn125Ser	rs1313938366	missense variant	-	NC_000011.10:g.75566723A>G	TOPMed
SERPINH1	P50454	p.Asn125Lys	rs772088561	missense variant	-	NC_000011.10:g.75566724C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg133Ter	rs753347871	stop gained	-	NC_000011.10:g.75566746C>T	ExAC,gnomAD
SERPINH1	P50454	p.Leu134Pro	rs1196316160	missense variant	-	NC_000011.10:g.75566750T>C	TOPMed,gnomAD
SERPINH1	P50454	p.Tyr135Ter	rs1036013353	stop gained	-	NC_000011.10:g.75566754C>G	TOPMed
SERPINH1	P50454	p.Gly136Arg	rs759183941	missense variant	-	NC_000011.10:g.75566755G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly136Arg	rs759183941	missense variant	-	NC_000011.10:g.75566755G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro137Ala	rs764873239	missense variant	-	NC_000011.10:g.75566758C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro137Leu	rs1395736008	missense variant	-	NC_000011.10:g.75566759C>T	gnomAD
SERPINH1	P50454	p.Ser138Arg	rs751862278	missense variant	-	NC_000011.10:g.75566763C>A	ExAC,gnomAD
SERPINH1	P50454	p.Ser139Leu	rs757639350	missense variant	-	NC_000011.10:g.75566765C>T	ExAC,gnomAD
SERPINH1	P50454	p.Val140Leu	rs148088085	missense variant	-	NC_000011.10:g.75566767G>C	ESP
SERPINH1	P50454	p.Phe142Leu	rs371660937	missense variant	-	NC_000011.10:g.75566775C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Phe142Leu	rs781508942	missense variant	-	NC_000011.10:g.75566773T>C	ExAC,gnomAD
SERPINH1	P50454	p.Ala143Thr	rs1325858555	missense variant	-	NC_000011.10:g.75566776G>A	gnomAD
SERPINH1	P50454	p.Asp144Gly	rs1392852377	missense variant	-	NC_000011.10:g.75566780A>G	gnomAD
SERPINH1	P50454	p.Asp145Glu	rs756623619	missense variant	-	NC_000011.10:g.75566784C>A	ExAC,gnomAD
SERPINH1	P50454	p.Asp145Asn	rs1443721076	missense variant	-	NC_000011.10:g.75566782G>A	gnomAD
SERPINH1	P50454	p.Phe146Leu	rs972547822	missense variant	-	NC_000011.10:g.75566785T>C	TOPMed
SERPINH1	P50454	p.Arg148Cys	rs61736330	missense variant	-	NC_000011.10:g.75566791C>T	gnomAD
SERPINH1	P50454	p.Arg148Ser	rs61736330	missense variant	-	NC_000011.10:g.75566791C>A	gnomAD
SERPINH1	P50454	p.Arg148His	rs1266438725	missense variant	-	NC_000011.10:g.75566792G>A	gnomAD
SERPINH1	P50454	p.Ser149Gly	rs780165606	missense variant	-	NC_000011.10:g.75566794A>G	ExAC,gnomAD
SERPINH1	P50454	p.Lys151Arg	rs749386696	missense variant	-	NC_000011.10:g.75566801A>G	ExAC,gnomAD
SERPINH1	P50454	p.Gln152Arg	rs768946201	missense variant	-	NC_000011.10:g.75566804A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.His153Gln	rs1467115947	missense variant	-	NC_000011.10:g.75566808C>G	gnomAD
SERPINH1	P50454	p.His153Asn	rs1272289174	missense variant	-	NC_000011.10:g.75566806C>A	gnomAD
SERPINH1	P50454	p.Asn155Ser	rs747915459	missense variant	-	NC_000011.10:g.75566813A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Cys156Trp	rs1485550302	missense variant	-	NC_000011.10:g.75566817C>G	gnomAD
SERPINH1	P50454	p.Glu157Lys	rs1011028573	missense variant	-	NC_000011.10:g.75566818G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu157Gly	rs1417004600	missense variant	-	NC_000011.10:g.75566819A>G	TOPMed
SERPINH1	P50454	p.Glu157Gln	rs1011028573	missense variant	-	NC_000011.10:g.75566818G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Ser159Phe	rs771963597	missense variant	-	NC_000011.10:g.75566825C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys160Arg	rs1429500698	missense variant	-	NC_000011.10:g.75566828A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Lys160Asn	rs886048661	missense variant	-	NC_000011.10:g.75566829G>C	TOPMed
SERPINH1	P50454	p.Lys160Asn	RCV000309167	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566829G>C	ClinVar
SERPINH1	P50454	p.Ile161Leu	RCV000359789	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566830A>C	ClinVar
SERPINH1	P50454	p.Ile161Leu	rs112083274	missense variant	-	NC_000011.10:g.75566830A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn162Ser	rs760648204	missense variant	-	NC_000011.10:g.75566834A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn162Lys	rs770842307	missense variant	-	NC_000011.10:g.75566835C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn162Lys	RCV000402192	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566835C>G	ClinVar
SERPINH1	P50454	p.Arg164Cys	rs776140347	missense variant	-	NC_000011.10:g.75566839C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg167Ser	rs764819709	missense variant	-	NC_000011.10:g.75566848C>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg167His	rs762631686	missense variant	-	NC_000011.10:g.75566849G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg167Cys	rs764819709	missense variant	-	NC_000011.10:g.75566848C>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala169Val	rs750807661	missense variant	-	NC_000011.10:g.75566855C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala169Thr	rs767898808	missense variant	-	NC_000011.10:g.75566854G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gln171Ter	rs1290424266	stop gained	-	NC_000011.10:g.75566860C>T	gnomAD
SERPINH1	P50454	p.Asn174Lys	rs1018770051	missense variant	-	NC_000011.10:g.75566871C>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu175Lys	rs766813083	missense variant	-	NC_000011.10:g.75566872G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu175Gln	rs766813083	missense variant	-	NC_000011.10:g.75566872G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu175Ter	rs766813083	stop gained	-	NC_000011.10:g.75566872G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala178Ser	rs753922805	missense variant	-	NC_000011.10:g.75566881G>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala178Thr	rs753922805	missense variant	-	NC_000011.10:g.75566881G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala178Val	rs755143041	missense variant	-	NC_000011.10:g.75566882C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly183Ser	rs758606932	missense variant	-	NC_000011.10:g.75566896G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly183Asp	rs1156365701	missense variant	-	NC_000011.10:g.75566897G>A	gnomAD
SERPINH1	P50454	p.Gly183Arg	rs758606932	missense variant	-	NC_000011.10:g.75566896G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys184Asn	rs1346453724	missense variant	-	NC_000011.10:g.75566901G>T	gnomAD
SERPINH1	P50454	p.Thr189Ala	RCV000506069	missense variant	-	NC_000011.10:g.75566914A>G	ClinVar
SERPINH1	P50454	p.Thr189Ala	rs138784081	missense variant	-	NC_000011.10:g.75566914A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Thr189Ser	rs1416351184	missense variant	-	NC_000011.10:g.75566915C>G	gnomAD
SERPINH1	P50454	p.Thr189Ser	rs138784081	missense variant	-	NC_000011.10:g.75566914A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys190Met	rs1389377935	missense variant	-	NC_000011.10:g.75566918A>T	gnomAD
SERPINH1	P50454	p.Asp191Asn	rs1349927093	missense variant	-	NC_000011.10:g.75566920G>A	gnomAD
SERPINH1	P50454	p.Asp191Glu	rs745340617	missense variant	-	NC_000011.10:g.75566922C>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp191Gly	rs1221970463	missense variant	-	NC_000011.10:g.75566921A>G	gnomAD
SERPINH1	P50454	p.Asp191Glu	RCV000360883	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566922C>A	ClinVar
SERPINH1	P50454	p.Val192Gly	rs769259507	missense variant	-	NC_000011.10:g.75566924T>G	ExAC,gnomAD
SERPINH1	P50454	p.Val192Ala	rs769259507	missense variant	-	NC_000011.10:g.75566924T>C	ExAC,gnomAD
SERPINH1	P50454	p.GluArg193AspSer	rs797044674	missense variant	-	NC_000011.10:g.75566928_75566929delinsCA	-
SERPINH1	P50454	p.Glu193Asp	RCV000175692	missense variant	-	NC_000011.10:g.75566928G>C	ClinVar
SERPINH1	P50454	p.Glu193Asp	rs559687602	missense variant	-	NC_000011.10:g.75566928G>C	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu193Ala	rs775027601	missense variant	-	NC_000011.10:g.75566927A>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu193AspSer	RCV000175689	missense variant	-	NC_000011.10:g.75566928_75566929delinsCA	ClinVar
SERPINH1	P50454	p.Arg194Ser	RCV000763776	missense variant	Preterm premature rupture of membranes (PPROM)	NC_000011.10:g.75566929C>A	ClinVar
SERPINH1	P50454	p.Arg194Ser	RCV000175693	missense variant	-	NC_000011.10:g.75566929C>A	ClinVar
SERPINH1	P50454	p.Arg194Ser	rs141721173	missense variant	-	NC_000011.10:g.75566929C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg194Ser	RCV000261310	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566929C>A	ClinVar
SERPINH1	P50454	p.Arg194Cys	rs141721173	missense variant	-	NC_000011.10:g.75566929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp196Glu	rs1232634716	missense variant	-	NC_000011.10:g.75566937C>A	gnomAD
SERPINH1	P50454	p.Gly197Arg	rs766872022	missense variant	-	NC_000011.10:g.75566938G>C	ExAC,gnomAD
SERPINH1	P50454	p.Gly197Cys	rs766872022	missense variant	-	NC_000011.10:g.75566938G>T	ExAC,gnomAD
SERPINH1	P50454	p.Gly197Val	rs755592285	missense variant	-	NC_000011.10:g.75566939G>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala198Thr	rs908092360	missense variant	-	NC_000011.10:g.75566941G>A	gnomAD
SERPINH1	P50454	p.Asn202Lys	rs1245712905	missense variant	-	NC_000011.10:g.75566955C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Phe205Val	rs777869458	missense variant	-	NC_000011.10:g.75566962T>G	ExAC,gnomAD
SERPINH1	P50454	p.Phe206Leu	rs1377787259	missense variant	-	NC_000011.10:g.75566967C>A	gnomAD
SERPINH1	P50454	p.Pro208Ser	rs746767763	missense variant	-	NC_000011.10:g.75566971C>T	ExAC,gnomAD
SERPINH1	P50454	p.His209Gln	rs569867446	missense variant	-	NC_000011.10:g.75568735C>G	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.His209Tyr	rs755976024	missense variant	-	NC_000011.10:g.75568733C>T	ExAC,gnomAD
SERPINH1	P50454	p.His216Pro	rs1300712632	missense variant	-	NC_000011.10:g.75568755A>C	TOPMed
SERPINH1	P50454	p.Lys217Asn	rs1323744768	missense variant	-	NC_000011.10:g.75568759G>T	TOPMed,gnomAD
SERPINH1	P50454	p.Met218Val	rs1396795405	missense variant	-	NC_000011.10:g.75568760A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Val219Met	rs1387383541	missense variant	-	NC_000011.10:g.75568763G>A	gnomAD
SERPINH1	P50454	p.Val219Ala	rs1159867029	missense variant	-	NC_000011.10:g.75568764T>C	TOPMed
SERPINH1	P50454	p.Asn221Asp	rs778537327	missense variant	-	NC_000011.10:g.75568769A>G	ExAC,gnomAD
SERPINH1	P50454	p.Asn221Tyr	rs778537327	missense variant	-	NC_000011.10:g.75568769A>T	ExAC,gnomAD
SERPINH1	P50454	p.Arg222His	rs771916875	missense variant	-	NC_000011.10:g.75568773G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg222Cys	rs747743316	missense variant	-	NC_000011.10:g.75568772C>T	ExAC,gnomAD
SERPINH1	P50454	p.Arg222Ser	rs747743316	missense variant	-	NC_000011.10:g.75568772C>A	ExAC,gnomAD
SERPINH1	P50454	p.Met225Val	rs928526391	missense variant	-	NC_000011.10:g.75568781A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Val226Met	rs1275556617	missense variant	-	NC_000011.10:g.75568784G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Arg228Gln	rs759994312	missense variant	-	NC_000011.10:g.75568791G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg228Pro	rs759994312	missense variant	-	NC_000011.10:g.75568791G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Tyr230Cys	rs1260400078	missense variant	-	NC_000011.10:g.75568797A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Thr231Ile	rs1218823155	missense variant	-	NC_000011.10:g.75568800C>T	TOPMed
SERPINH1	P50454	p.Val232Gly	rs763555596	missense variant	-	NC_000011.10:g.75568803T>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val232Met	rs534696801	missense variant	-	NC_000011.10:g.75568802G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gly233Asp	rs1162741198	missense variant	-	NC_000011.10:g.75568806G>A	gnomAD
SERPINH1	P50454	p.Met235Ile	rs764058290	missense variant	-	NC_000011.10:g.75568813G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met235Ile	rs764058290	missense variant	-	NC_000011.10:g.75568813G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met237Thr	RCV000256253	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75568818T>C	ClinVar
SERPINH1	P50454	p.Met237Thr	rs886039819	missense variant	-	NC_000011.10:g.75568818T>C	-
SERPINH1	P50454	p.Met237Ile	rs1458326459	missense variant	-	NC_000011.10:g.75568819G>A	gnomAD
SERPINH1	P50454	p.His238Gln	rs761932276	missense variant	-	NC_000011.10:g.75568822C>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg239Leu	rs750157727	missense variant	-	NC_000011.10:g.75568824G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg239Trp	rs767729275	missense variant	-	NC_000011.10:g.75568823C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg239Gln	rs750157727	missense variant	-	NC_000011.10:g.75568824G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg239Leu	RCV000376278	missense variant	-	NC_000011.10:g.75568824G>T	ClinVar
SERPINH1	P50454	p.Gly241Val	rs767688879	missense variant	-	NC_000011.10:g.75568939G>T	ExAC,gnomAD
SERPINH1	P50454	p.Leu242Phe	rs1195158034	missense variant	-	NC_000011.10:g.75568941C>T	gnomAD
SERPINH1	P50454	p.Asn244Thr	rs773393677	missense variant	-	NC_000011.10:g.75568948A>C	ExAC,gnomAD
SERPINH1	P50454	p.Asn244Ser	rs773393677	missense variant	-	NC_000011.10:g.75568948A>G	ExAC,gnomAD
SERPINH1	P50454	p.Asp247Asn	rs753734711	missense variant	-	NC_000011.10:g.75568956G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp248His	rs765236669	missense variant	-	NC_000011.10:g.75568959G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp248Asn	rs765236669	missense variant	-	NC_000011.10:g.75568959G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu249Gln	rs1296984761	missense variant	-	NC_000011.10:g.75568962G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Glu249Asp	rs542837557	missense variant	-	NC_000011.10:g.75568964G>C	1000Genomes
SERPINH1	P50454	p.Glu249Gly	rs777463655	missense variant	-	NC_000011.10:g.75568963A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu249Lys	rs1296984761	missense variant	-	NC_000011.10:g.75568962G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu251Lys	rs553118941	missense variant	-	NC_000011.10:g.75568968G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu253Pro	rs1331519111	missense variant	-	NC_000011.10:g.75568975T>C	gnomAD
SERPINH1	P50454	p.Gln254Glu	rs757027235	missense variant	-	NC_000011.10:g.75568977C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val256Met	rs749664592	missense variant	-	NC_000011.10:g.75568983G>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu257Asp	rs1015978540	missense variant	-	NC_000011.10:g.75568988G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Met258Ile	rs1249374274	missense variant	-	NC_000011.10:g.75568991G>A	gnomAD
SERPINH1	P50454	p.Pro259Thr	rs1459090987	missense variant	-	NC_000011.10:g.75568992C>A	gnomAD
SERPINH1	P50454	p.Pro259Leu	rs768984519	missense variant	-	NC_000011.10:g.75568993C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu260Val	rs774942194	missense variant	-	NC_000011.10:g.75568995C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala261Thr	rs748697715	missense variant	-	NC_000011.10:g.75568998G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala261Gly	rs201644679	missense variant	-	NC_000011.10:g.75568999C>G	1000Genomes,TOPMed
SERPINH1	P50454	p.Leu264Phe	rs1302597191	missense variant	-	NC_000011.10:g.75569007C>T	gnomAD
SERPINH1	P50454	p.Ser265Pro	rs1426078525	missense variant	-	NC_000011.10:g.75569010T>C	gnomAD
SERPINH1	P50454	p.Ser266Thr	rs772119590	missense variant	-	NC_000011.10:g.75569014G>C	ExAC,gnomAD
SERPINH1	P50454	p.Ile268Thr	rs887118799	missense variant	-	NC_000011.10:g.75569020T>C	TOPMed
SERPINH1	P50454	p.Val275Met	rs199679249	missense variant	-	NC_000011.10:g.75569040G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val275Met	RCV000326079	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75569040G>A	ClinVar
SERPINH1	P50454	p.Val275Leu	rs199679249	missense variant	-	NC_000011.10:g.75569040G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu276Ala	RCV000757757	missense variant	-	NC_000011.10:g.75569044A>C	ClinVar
SERPINH1	P50454	p.Glu276Ala	rs148613550	missense variant	-	NC_000011.10:g.75569044A>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu276Lys	rs776233451	missense variant	-	NC_000011.10:g.75569043G>A	ExAC,gnomAD
SERPINH1	P50454	p.Pro277Thr	rs765044030	missense variant	-	NC_000011.10:g.75569046C>A	ExAC,gnomAD
SERPINH1	P50454	p.Pro277His	rs1276134932	missense variant	-	NC_000011.10:g.75569047C>A	gnomAD
SERPINH1	P50454	p.Glu279Lys	rs758458147	missense variant	-	NC_000011.10:g.75569052G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu279Gln	rs758458147	missense variant	-	NC_000011.10:g.75569052G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg280Cys	rs200572997	missense variant	-	NC_000011.10:g.75569055C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg280Ser	rs200572997	missense variant	-	NC_000011.10:g.75569055C>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg280His	rs370057420	missense variant	-	NC_000011.10:g.75569056G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu281Phe	rs1379043592	missense variant	-	NC_000011.10:g.75569058C>T	TOPMed
SERPINH1	P50454	p.Glu282Lys	rs755341831	missense variant	-	NC_000011.10:g.75569061G>A	ExAC
SERPINH1	P50454	p.Lys287Glu	rs1265806916	missense variant	-	NC_000011.10:g.75569076A>G	gnomAD
SERPINH1	P50454	p.Lys287Gln	rs1265806916	missense variant	-	NC_000011.10:g.75569076A>C	gnomAD
SERPINH1	P50454	p.Glu288Lys	rs369751579	missense variant	-	NC_000011.10:g.75569079G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ile292Met	rs771012011	missense variant	-	NC_000011.10:g.75569093C>G	ExAC,gnomAD
SERPINH1	P50454	p.Trp293Arg	rs776944994	missense variant	-	NC_000011.10:g.75569094T>C	ExAC,TOPMed
SERPINH1	P50454	p.Met294Ile	rs759715144	missense variant	-	NC_000011.10:g.75569099G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gly295Arg	rs1452624175	missense variant	-	NC_000011.10:g.75569100G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Gly295Arg	rs1452624175	missense variant	-	NC_000011.10:g.75569100G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Met297Ile	rs200106884	missense variant	-	NC_000011.10:g.75569108G>A	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Met297Ile	rs200106884	missense variant	-	NC_000011.10:g.75569108G>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Lys300Arg	rs1173430313	missense variant	-	NC_000011.10:g.75569116A>G	TOPMed
SERPINH1	P50454	p.Ala301Gly	rs764127543	missense variant	-	NC_000011.10:g.75569119C>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala303Thr	rs751052033	missense variant	-	NC_000011.10:g.75569124G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ser305Pro	rs549207386	missense variant	-	NC_000011.10:g.75569130T>C	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Ser305Cys	rs767034212	missense variant	-	NC_000011.10:g.75569131C>G	ExAC,gnomAD
SERPINH1	P50454	p.Leu306Ter	RCV000778338	frameshift	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75569135del	ClinVar
SERPINH1	P50454	p.Lys308Arg	rs142663000	missense variant	-	NC_000011.10:g.75569140A>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly309Cys	rs779248122	missense variant	-	NC_000011.10:g.75569142G>T	ExAC,gnomAD
SERPINH1	P50454	p.Gly309Val	rs753068848	missense variant	-	NC_000011.10:g.75569143G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly309Asp	rs753068848	missense variant	-	NC_000011.10:g.75569143G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val311Leu	rs1474093032	missense variant	-	NC_000011.10:g.75569148G>T	gnomAD
SERPINH1	P50454	p.Glu312Lys	rs1413894809	missense variant	-	NC_000011.10:g.75569151G>A	gnomAD
SERPINH1	P50454	p.Thr314Ile	rs747053861	missense variant	-	NC_000011.10:g.75569158C>T	ExAC,gnomAD
SERPINH1	P50454	p.Gln318Ter	rs1440784485	stop gained	-	NC_000011.10:g.75569169C>T	TOPMed
SERPINH1	P50454	p.Leu321Ter	RCV000343835	frameshift	-	NC_000011.10:g.75571787del	ClinVar
SERPINH1	P50454	p.Ala322Thr	rs781326376	missense variant	-	NC_000011.10:g.75571790G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gly323Glu	rs144791057	missense variant	-	NC_000011.10:g.75571794G>A	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu324Met	rs1437455313	missense variant	-	NC_000011.10:g.75571796C>A	gnomAD
SERPINH1	P50454	p.Leu326Val	rs1270038150	missense variant	-	NC_000011.10:g.75571802C>G	gnomAD
SERPINH1	P50454	p.Thr327Ala	rs780442561	missense variant	-	NC_000011.10:g.75571805A>G	ExAC,gnomAD
SERPINH1	P50454	p.Glu328Lys	rs749048421	missense variant	-	NC_000011.10:g.75571808G>A	ExAC,gnomAD
SERPINH1	P50454	p.Asp331Glu	rs774348484	missense variant	-	NC_000011.10:g.75571819C>A	ExAC,gnomAD
SERPINH1	P50454	p.Lys332Asn	rs147936395	missense variant	-	NC_000011.10:g.75571822G>C	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Lys332Glu	rs1208775353	missense variant	-	NC_000011.10:g.75571820A>G	gnomAD
SERPINH1	P50454	p.Asp336Asn	rs771911618	missense variant	-	NC_000011.10:g.75571832G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser338Pro	rs995057062	missense variant	-	NC_000011.10:g.75571838T>C	TOPMed
SERPINH1	P50454	p.Arg339His	RCV000346063	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75571842G>A	ClinVar
SERPINH1	P50454	p.Arg339Cys	rs760125834	missense variant	-	NC_000011.10:g.75571841C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg339Leu	rs535510332	missense variant	-	NC_000011.10:g.75571842G>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg339His	rs535510332	missense variant	-	NC_000011.10:g.75571842G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met340Val	rs899357876	missense variant	-	NC_000011.10:g.75571844A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Met340Ile	rs201416803	missense variant	-	NC_000011.10:g.75571846G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu348Val	rs757716271	missense variant	-	NC_000011.10:g.75571868C>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala349Asp	rs1317813949	missense variant	-	NC_000011.10:g.75571872C>A	gnomAD
SERPINH1	P50454	p.Ser350Thr	rs150431930	missense variant	-	NC_000011.10:g.75571875G>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val351Met	rs368336245	missense variant	-	NC_000011.10:g.75571877G>A	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val351Met	RCV000178839	missense variant	-	NC_000011.10:g.75571877G>A	ClinVar
SERPINH1	P50454	p.Phe352Tyr	rs1355427520	missense variant	-	NC_000011.10:g.75571881T>A	gnomAD
SERPINH1	P50454	p.His353Arg	rs780318111	missense variant	-	NC_000011.10:g.75571884A>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala354Val	rs1210096447	missense variant	-	NC_000011.10:g.75571887C>T	TOPMed,gnomAD
SERPINH1	P50454	p.Ala354Thr	rs369550626	missense variant	-	NC_000011.10:g.75571886G>A	ESP,ExAC,gnomAD
SERPINH1	P50454	p.Ala354Gly	rs1210096447	missense variant	-	NC_000011.10:g.75571887C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Ala356Thr	rs747912977	missense variant	-	NC_000011.10:g.75571892G>A	ExAC,gnomAD
SERPINH1	P50454	p.Leu359Phe	rs771997683	missense variant	-	NC_000011.10:g.75571903G>C	ExAC,gnomAD
SERPINH1	P50454	p.Asp362His	rs1202285973	missense variant	-	NC_000011.10:g.75571910G>C	TOPMed
SERPINH1	P50454	p.Asp362Glu	rs1268337790	missense variant	-	NC_000011.10:g.75571912T>A	gnomAD
SERPINH1	P50454	p.Asn364Lys	rs1263626738	missense variant	-	NC_000011.10:g.75571918C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Pro365Leu	rs574281910	missense variant	-	NC_000011.10:g.75571920C>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Phe366Ser	rs747009311	missense variant	-	NC_000011.10:g.75571923T>C	ExAC,gnomAD
SERPINH1	P50454	p.Ile370Thr	rs758312076	missense variant	-	NC_000011.10:g.75571935T>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly372Arg	rs200180052	missense variant	-	NC_000011.10:g.75571940G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg373Cys	rs764873155	missense variant	-	NC_000011.10:g.75571943C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg373His	rs774719472	missense variant	-	NC_000011.10:g.75571944G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu374Asp	rs750860974	missense variant	-	NC_000011.10:g.75571948G>C	ExAC,gnomAD
SERPINH1	P50454	p.Glu374Lys	rs768025277	missense variant	-	NC_000011.10:g.75571946G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu375Lys	rs577035420	missense variant	-	NC_000011.10:g.75571949G>A	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Glu375Ter	rs577035420	stop gained	-	NC_000011.10:g.75571949G>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Glu375Val	rs545800102	missense variant	-	NC_000011.10:g.75571950A>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Glu375Asp	rs562306544	missense variant	-	NC_000011.10:g.75571951G>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Arg377His	rs779029499	missense variant	-	NC_000011.10:g.75571956G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg377Cys	rs576211302	missense variant	-	NC_000011.10:g.75571955C>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Lys380Gln	rs935830138	missense variant	-	NC_000011.10:g.75571964A>C	TOPMed,gnomAD
SERPINH1	P50454	p.Lys380Arg	rs758098270	missense variant	-	NC_000011.10:g.75571965A>G	ExAC,TOPMed
SERPINH1	P50454	p.Leu381Val	rs1258116556	missense variant	-	NC_000011.10:g.75571967C>G	gnomAD
SERPINH1	P50454	p.Tyr383Asn	rs746933828	missense variant	-	NC_000011.10:g.75571973T>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala384Thr	rs200974428	missense variant	-	NC_000011.10:g.75571976G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ile389Val	rs775032765	missense variant	-	NC_000011.10:g.75571991A>G	ExAC,gnomAD
SERPINH1	P50454	p.Leu391Pro	rs1251965369	missense variant	-	NC_000011.10:g.75571998T>C	TOPMed
SERPINH1	P50454	p.Leu391Val	rs1403593010	missense variant	-	NC_000011.10:g.75571997C>G	gnomAD
SERPINH1	P50454	p.Arg393Trp	rs527863136	missense variant	-	NC_000011.10:g.75572003C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg393Gln	rs772299825	missense variant	-	NC_000011.10:g.75572004G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Thr395Ala	rs1448534764	missense variant	-	NC_000011.10:g.75572009A>G	gnomAD
SERPINH1	P50454	p.Gly398Ser	rs1045176937	missense variant	-	NC_000011.10:g.75572018G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Gly398Val	rs765402376	missense variant	-	NC_000011.10:g.75572019G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser399Phe	rs376520307	missense variant	-	NC_000011.10:g.75572022C>T	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Ser399Tyr	rs376520307	missense variant	-	NC_000011.10:g.75572022C>A	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Leu400Gln	rs943602399	missense variant	-	NC_000011.10:g.75572025T>A	gnomAD
SERPINH1	P50454	p.Leu400Pro	rs943602399	missense variant	-	NC_000011.10:g.75572025T>C	gnomAD
SERPINH1	P50454	p.Leu401Val	rs547644799	missense variant	-	NC_000011.10:g.75572027C>G	1000Genomes
SERPINH1	P50454	p.Ile403Thr	rs201566218	missense variant	-	NC_000011.10:g.75572034T>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ile403Val	rs758706956	missense variant	-	NC_000011.10:g.75572033A>G	ExAC,gnomAD
SERPINH1	P50454	p.Ile403Thr	RCV000377379	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75572034T>C	ClinVar
SERPINH1	P50454	p.Arg405His	RCV000656724	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75572040G>A	ClinVar
SERPINH1	P50454	p.Arg405His	rs781125078	missense variant	-	NC_000011.10:g.75572040G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg405Cys	rs757124438	missense variant	-	NC_000011.10:g.75572039C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val407Leu	rs138241050	missense variant	-	NC_000011.10:g.75572045G>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg408Trp	rs769154335	missense variant	-	NC_000011.10:g.75572048C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg408Gln	rs371699925	missense variant	-	NC_000011.10:g.75572049G>A	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro409Ala	rs1448285880	missense variant	-	NC_000011.10:g.75572051C>G	gnomAD
SERPINH1	P50454	p.Lys410Glu	rs773655408	missense variant	-	NC_000011.10:g.75572054A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp412Glu	rs200334001	missense variant	-	NC_000011.10:g.75572062C>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp412Ter	RCV000779627	nonsense	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75572059dup	ClinVar
SERPINH1	P50454	p.Asp412Asn	rs761143786	missense variant	-	NC_000011.10:g.75572060G>A	ExAC,gnomAD
SERPINH1	P50454	p.Lys413Arg	rs777250907	missense variant	-	NC_000011.10:g.75572064A>G	ExAC,gnomAD
SERPINH1	P50454	p.Met414Thr	rs1345847003	missense variant	-	NC_000011.10:g.75572067T>C	gnomAD
SERPINH1	P50454	p.Arg415Gln	rs760141322	missense variant	-	NC_000011.10:g.75572070G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg415Gly	rs149137596	missense variant	-	NC_000011.10:g.75572069C>G	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Asp416Glu	rs145015985	missense variant	-	NC_000011.10:g.75572074C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu417Lys	rs1292850878	missense variant	-	NC_000011.10:g.75572075G>A	gnomAD
SERPINH1	P50454	p.Arg2Cys	rs1179959048	missense variant	-	NC_000011.10:g.75566353C>T	TOPMed
SERPINH1	P50454	p.Arg2His	rs776045465	missense variant	-	NC_000011.10:g.75566354G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ser3Phe	rs763538958	missense variant	-	NC_000011.10:g.75566357C>T	ExAC,gnomAD
SERPINH1	P50454	p.Leu7Phe	rs764762999	missense variant	-	NC_000011.10:g.75566368C>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala9Thr	rs1243981635	missense variant	-	NC_000011.10:g.75566374G>A	gnomAD
SERPINH1	P50454	p.Phe10Ser	rs757293522	missense variant	-	NC_000011.10:g.75566378T>C	ExAC,gnomAD
SERPINH1	P50454	p.Phe10Val	rs751588882	missense variant	-	NC_000011.10:g.75566377T>G	ExAC,gnomAD
SERPINH1	P50454	p.Cys11Tyr	rs1411853245	missense variant	-	NC_000011.10:g.75566381G>A	gnomAD
SERPINH1	P50454	p.Leu13Gln	rs767726256	missense variant	-	NC_000011.10:g.75566387T>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu14Lys	rs750583954	missense variant	-	NC_000011.10:g.75566389G>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu14Gln	rs750583954	missense variant	-	NC_000011.10:g.75566389G>C	ExAC,gnomAD
SERPINH1	P50454	p.Ala16Val	rs779814242	missense variant	-	NC_000011.10:g.75566396C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala18Thr	rs749150631	missense variant	-	NC_000011.10:g.75566401G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala19Thr	rs778730843	missense variant	-	NC_000011.10:g.75566404G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala19Ser	rs778730843	missense variant	-	NC_000011.10:g.75566404G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu20Lys	rs200397594	missense variant	-	NC_000011.10:g.75566407G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro24Arg	rs1455685529	missense variant	-	NC_000011.10:g.75566420C>G	gnomAD
SERPINH1	P50454	p.Ala25Thr	rs775990446	missense variant	-	NC_000011.10:g.75566422G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala25Val	rs1008194909	missense variant	-	NC_000011.10:g.75566423C>T	TOPMed,gnomAD
SERPINH1	P50454	p.Ala27Thr	rs1255465997	missense variant	-	NC_000011.10:g.75566428G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Ala29Pro	rs1458579009	missense variant	-	NC_000011.10:g.75566434G>C	TOPMed
SERPINH1	P50454	p.Ala29Val	rs774738608	missense variant	-	NC_000011.10:g.75566435C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala29Gly	rs774738608	missense variant	-	NC_000011.10:g.75566435C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly31Ala	RCV000343777	missense variant	-	NC_000011.10:g.75566441G>C	ClinVar
SERPINH1	P50454	p.Gly31Ala	rs140588417	missense variant	-	NC_000011.10:g.75566441G>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly31Ala	RCV000387403	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566441G>C	ClinVar
SERPINH1	P50454	p.Thr32Ser	rs1346770501	missense variant	-	NC_000011.10:g.75566444C>G	gnomAD
SERPINH1	P50454	p.Ala33Pro	rs150061926	missense variant	-	NC_000011.10:g.75566446G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala33Ser	rs150061926	missense variant	-	NC_000011.10:g.75566446G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala33Val	rs754791521	missense variant	-	NC_000011.10:g.75566447C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu34Gln	rs1243031165	missense variant	-	NC_000011.10:g.75566449G>C	TOPMed
SERPINH1	P50454	p.Lys35Met	rs752546581	missense variant	-	NC_000011.10:g.75566453A>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro38Ser	rs1222845521	missense variant	-	NC_000011.10:g.75566461C>T	TOPMed
SERPINH1	P50454	p.Lys39Thr	rs777133890	missense variant	-	NC_000011.10:g.75566465A>C	ExAC
SERPINH1	P50454	p.Ala40Val	rs1281239903	missense variant	-	NC_000011.10:g.75566468C>T	gnomAD
SERPINH1	P50454	p.Thr42Lys	rs781002791	missense variant	-	NC_000011.10:g.75566474C>A	ExAC,gnomAD
SERPINH1	P50454	p.Leu43Val	rs768929258	missense variant	-	NC_000011.10:g.75566476C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu43Phe	rs768929258	missense variant	-	NC_000011.10:g.75566476C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala44Thr	rs995079770	missense variant	-	NC_000011.10:g.75566479G>A	-
SERPINH1	P50454	p.Ala44Gly	rs1381440814	missense variant	-	NC_000011.10:g.75566480C>G	TOPMed
SERPINH1	P50454	p.Ser47Ile	RCV000521163	missense variant	-	NC_000011.10:g.75566489_75566490delinsTT	ClinVar
SERPINH1	P50454	p.Ser47Gly	rs1251272276	missense variant	-	NC_000011.10:g.75566488A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Ser47Ile	rs1555025879	missense variant	-	NC_000011.10:g.75566489_75566490delinsTT	-
SERPINH1	P50454	p.Gly49Val	rs1362402134	missense variant	-	NC_000011.10:g.75566495G>T	TOPMed,gnomAD
SERPINH1	P50454	p.Leu50Gln	rs772706450	missense variant	-	NC_000011.10:g.75566498T>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala51Asp	rs1392780279	missense variant	-	NC_000011.10:g.75566501C>A	gnomAD
SERPINH1	P50454	p.Ala51Thr	rs1171329004	missense variant	-	NC_000011.10:g.75566500G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Phe52Leu	rs1435975435	missense variant	-	NC_000011.10:g.75566503T>C	TOPMed,gnomAD
SERPINH1	P50454	p.Ser53Asn	rs773211240	missense variant	-	NC_000011.10:g.75566507G>A	ExAC,gnomAD
SERPINH1	P50454	p.Leu54Val	rs540061657	missense variant	-	NC_000011.10:g.75566509T>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu54Phe	rs1407839158	missense variant	-	NC_000011.10:g.75566511G>T	gnomAD
SERPINH1	P50454	p.Gln56Ter	rs1330692923	stop gained	-	NC_000011.10:g.75566515C>T	gnomAD
SERPINH1	P50454	p.Gln56Arg	rs553519612	missense variant	-	NC_000011.10:g.75566516A>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met58Thr	rs764918894	missense variant	-	NC_000011.10:g.75566522T>C	ExAC,gnomAD
SERPINH1	P50454	p.Lys60Glu	rs752594307	missense variant	-	NC_000011.10:g.75566527A>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala63Thr	rs758261919	missense variant	-	NC_000011.10:g.75566536G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala63Glu	rs576480194	missense variant	-	NC_000011.10:g.75566537C>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala63Val	rs576480194	missense variant	-	NC_000011.10:g.75566537C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ile67Val	rs780947787	missense variant	-	NC_000011.10:g.75566548A>G	ExAC,gnomAD
SERPINH1	P50454	p.Val69Leu	rs755858302	missense variant	-	NC_000011.10:g.75566554G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser70Pro	rs1455213836	missense variant	-	NC_000011.10:g.75566557T>C	gnomAD
SERPINH1	P50454	p.Pro71Ser	rs779144412	missense variant	-	NC_000011.10:g.75566560C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro71Ala	rs779144412	missense variant	-	NC_000011.10:g.75566560C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val72Leu	rs868134687	missense variant	-	NC_000011.10:g.75566563G>T	gnomAD
SERPINH1	P50454	p.Val72Met	rs868134687	missense variant	-	NC_000011.10:g.75566563G>A	gnomAD
SERPINH1	P50454	p.Val74Leu	rs1404479835	missense variant	-	NC_000011.10:g.75566569G>T	gnomAD
SERPINH1	P50454	p.Ala75Val	rs1452549591	missense variant	-	NC_000011.10:g.75566573C>T	TOPMed
SERPINH1	P50454	p.Ser76Leu	rs376824871	missense variant	-	NC_000011.10:g.75566576C>T	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser76Trp	rs376824871	missense variant	-	NC_000011.10:g.75566576C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu78Pro	RCV000023052	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75566582T>C	ClinVar
SERPINH1	P50454	p.Leu78Pro	rs137853892	missense variant	-	NC_000011.10:g.75566582T>C	-
SERPINH1	P50454	p.Leu78Pro	rs137853892	missense variant	Osteogenesis imperfecta 10 (OI10)	NC_000011.10:g.75566582T>C	UniProt,dbSNP
SERPINH1	P50454	p.Leu78Pro	VAR_063602	missense variant	Osteogenesis imperfecta 10 (OI10)	NC_000011.10:g.75566582T>C	UniProt
SERPINH1	P50454	p.Gly79Trp	rs765561870	missense variant	-	NC_000011.10:g.75566584G>T	ExAC,gnomAD
SERPINH1	P50454	p.Val81Met	rs1246483844	missense variant	-	NC_000011.10:g.75566590G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Val81Leu	rs1246483844	missense variant	-	NC_000011.10:g.75566590G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Ser82Ala	rs751575798	missense variant	-	NC_000011.10:g.75566593T>G	ExAC,gnomAD
SERPINH1	P50454	p.Ser82Leu	rs1275419791	missense variant	-	NC_000011.10:g.75566594C>T	gnomAD
SERPINH1	P50454	p.Gly85Ser	rs1208647821	missense variant	-	NC_000011.10:g.75566602G>A	gnomAD
SERPINH1	P50454	p.Gly85Cys	rs1208647821	missense variant	-	NC_000011.10:g.75566602G>T	gnomAD
SERPINH1	P50454	p.Gly85Asp	rs1260506914	missense variant	-	NC_000011.10:g.75566603G>A	gnomAD
SERPINH1	P50454	p.Ala87Val	rs913843138	missense variant	-	NC_000011.10:g.75566609C>T	gnomAD
SERPINH1	P50454	p.Thr88Ile	rs1373248815	missense variant	-	NC_000011.10:g.75566612C>T	gnomAD
SERPINH1	P50454	p.Thr89Arg	rs1419722597	missense variant	-	NC_000011.10:g.75566615C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Thr89Met	rs1419722597	missense variant	-	NC_000011.10:g.75566615C>T	TOPMed,gnomAD
SERPINH1	P50454	p.Ser91Leu	rs750020039	missense variant	-	NC_000011.10:g.75566621C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala93Ser	rs1319259821	missense variant	-	NC_000011.10:g.75566626G>T	gnomAD
SERPINH1	P50454	p.Ala95Thr	rs1340041209	missense variant	-	NC_000011.10:g.75566632G>A	gnomAD
SERPINH1	P50454	p.Ser98Asn	rs541595707	missense variant	-	NC_000011.10:g.75566642G>A	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Ala99Thr	rs771330167	missense variant	-	NC_000011.10:g.75566644G>A	gnomAD
SERPINH1	P50454	p.Ala99Gly	rs748414210	missense variant	-	NC_000011.10:g.75566645C>G	ExAC,TOPMed
SERPINH1	P50454	p.Glu100Lys	RCV000403806	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566647G>A	ClinVar
SERPINH1	P50454	p.Glu100Asp	rs1477630216	missense variant	-	NC_000011.10:g.75566649G>C	gnomAD
SERPINH1	P50454	p.Glu100Gln	rs749665611	missense variant	-	NC_000011.10:g.75566647G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu100Lys	rs749665611	missense variant	-	NC_000011.10:g.75566647G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gln101Arg	rs747493825	missense variant	-	NC_000011.10:g.75566651A>G	ExAC,gnomAD
SERPINH1	P50454	p.Leu102Gln	rs377583721	missense variant	-	NC_000011.10:g.75566654T>A	ESP,ExAC,gnomAD
SERPINH1	P50454	p.Arg103Cys	rs369290752	missense variant	-	NC_000011.10:g.75566656C>T	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Arg103His	rs1485163348	missense variant	-	NC_000011.10:g.75566657G>A	gnomAD
SERPINH1	P50454	p.Asp104Asn	rs1259422392	missense variant	-	NC_000011.10:g.75566659G>A	gnomAD
SERPINH1	P50454	p.Glu105Gly	rs1041020879	missense variant	-	NC_000011.10:g.75566663A>G	TOPMed
SERPINH1	P50454	p.Glu105Lys	rs376810317	missense variant	-	NC_000011.10:g.75566662G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu105Gln	rs376810317	missense variant	-	NC_000011.10:g.75566662G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Glu106Asp	rs561786753	missense variant	-	NC_000011.10:g.75566667G>C	1000Genomes,gnomAD
SERPINH1	P50454	p.Glu106Val	rs1219793193	missense variant	-	NC_000011.10:g.75566666A>T	TOPMed
SERPINH1	P50454	p.Glu106Ter	rs1272147228	stop gained	-	NC_000011.10:g.75566665G>T	TOPMed
SERPINH1	P50454	p.Val107Met	rs745963767	missense variant	-	NC_000011.10:g.75566668G>A	ExAC,gnomAD
SERPINH1	P50454	p.Val107Leu	rs745963767	missense variant	-	NC_000011.10:g.75566668G>T	ExAC,gnomAD
SERPINH1	P50454	p.His108Arg	rs1159264267	missense variant	-	NC_000011.10:g.75566672A>G	gnomAD
SERPINH1	P50454	p.His108Gln	rs1374924761	missense variant	-	NC_000011.10:g.75566673C>A	gnomAD
SERPINH1	P50454	p.Ala109Gly	rs148959638	missense variant	-	NC_000011.10:g.75566675C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly110Asp	rs1356511928	missense variant	-	NC_000011.10:g.75566678G>A	gnomAD
SERPINH1	P50454	p.Leu111Met	rs527346653	missense variant	-	NC_000011.10:g.75566680C>A	1000Genomes
SERPINH1	P50454	p.Glu113Asp	rs763945752	missense variant	-	NC_000011.10:g.75566688G>C	ExAC,gnomAD
SERPINH1	P50454	p.Glu113Ala	rs1403321240	missense variant	-	NC_000011.10:g.75566687A>C	TOPMed
SERPINH1	P50454	p.Leu115Gln	rs1208295704	missense variant	-	NC_000011.10:g.75566693T>A	gnomAD
SERPINH1	P50454	p.Arg116Leu	rs755675475	missense variant	-	NC_000011.10:g.75566696G>T	ExAC,TOPMed
SERPINH1	P50454	p.Arg116His	rs755675475	missense variant	-	NC_000011.10:g.75566696G>A	ExAC,TOPMed
SERPINH1	P50454	p.Arg116Cys	rs200265134	missense variant	-	NC_000011.10:g.75566695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg116Ser	rs200265134	missense variant	-	NC_000011.10:g.75566695C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg116Ser	RCV000344667	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566695C>A	ClinVar
SERPINH1	P50454	p.Ser117Ter	rs571009837	stop gained	-	NC_000011.10:g.75566699C>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser117Leu	rs571009837	missense variant	-	NC_000011.10:g.75566699C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu118Ile	rs778098631	missense variant	-	NC_000011.10:g.75566701C>A	ExAC
SERPINH1	P50454	p.Ser119Thr	rs893319673	missense variant	-	NC_000011.10:g.75566705G>C	TOPMed
SERPINH1	P50454	p.Ser119Gly	rs751987057	missense variant	-	NC_000011.10:g.75566704A>G	ExAC
SERPINH1	P50454	p.Asn120ThrTerUnk	rs1420882595	stop gained	-	NC_000011.10:g.75566707_75566708insCGTGA	gnomAD
SERPINH1	P50454	p.Asn120Ser	rs757694413	missense variant	-	NC_000011.10:g.75566708A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser121Phe	rs1175794090	missense variant	-	NC_000011.10:g.75566711C>T	gnomAD
SERPINH1	P50454	p.Ser121Ala	rs781727997	missense variant	-	NC_000011.10:g.75566710T>G	ExAC,gnomAD
SERPINH1	P50454	p.Thr122Met	rs769945594	missense variant	-	NC_000011.10:g.75566714C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala123Ser	rs749500041	missense variant	-	NC_000011.10:g.75566716G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala123Val	rs769054443	missense variant	-	NC_000011.10:g.75566717C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala123Glu	rs769054443	missense variant	-	NC_000011.10:g.75566717C>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg124Leu	rs761716222	missense variant	-	NC_000011.10:g.75566720G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg124Pro	rs761716222	missense variant	-	NC_000011.10:g.75566720G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn125Ser	rs1313938366	missense variant	-	NC_000011.10:g.75566723A>G	TOPMed
SERPINH1	P50454	p.Asn125Lys	rs772088561	missense variant	-	NC_000011.10:g.75566724C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg133Ter	rs753347871	stop gained	-	NC_000011.10:g.75566746C>T	ExAC,gnomAD
SERPINH1	P50454	p.Leu134Pro	rs1196316160	missense variant	-	NC_000011.10:g.75566750T>C	TOPMed,gnomAD
SERPINH1	P50454	p.Tyr135Ter	rs1036013353	stop gained	-	NC_000011.10:g.75566754C>G	TOPMed
SERPINH1	P50454	p.Gly136Arg	rs759183941	missense variant	-	NC_000011.10:g.75566755G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly136Arg	rs759183941	missense variant	-	NC_000011.10:g.75566755G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro137Ala	rs764873239	missense variant	-	NC_000011.10:g.75566758C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro137Leu	rs1395736008	missense variant	-	NC_000011.10:g.75566759C>T	gnomAD
SERPINH1	P50454	p.Ser138Arg	rs751862278	missense variant	-	NC_000011.10:g.75566763C>A	ExAC,gnomAD
SERPINH1	P50454	p.Ser139Leu	rs757639350	missense variant	-	NC_000011.10:g.75566765C>T	ExAC,gnomAD
SERPINH1	P50454	p.Val140Leu	rs148088085	missense variant	-	NC_000011.10:g.75566767G>C	ESP
SERPINH1	P50454	p.Phe142Leu	rs371660937	missense variant	-	NC_000011.10:g.75566775C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Phe142Leu	rs781508942	missense variant	-	NC_000011.10:g.75566773T>C	ExAC,gnomAD
SERPINH1	P50454	p.Ala143Thr	rs1325858555	missense variant	-	NC_000011.10:g.75566776G>A	gnomAD
SERPINH1	P50454	p.Asp144Gly	rs1392852377	missense variant	-	NC_000011.10:g.75566780A>G	gnomAD
SERPINH1	P50454	p.Asp145Glu	rs756623619	missense variant	-	NC_000011.10:g.75566784C>A	ExAC,gnomAD
SERPINH1	P50454	p.Asp145Asn	rs1443721076	missense variant	-	NC_000011.10:g.75566782G>A	gnomAD
SERPINH1	P50454	p.Phe146Leu	rs972547822	missense variant	-	NC_000011.10:g.75566785T>C	TOPMed
SERPINH1	P50454	p.Arg148Ser	rs61736330	missense variant	-	NC_000011.10:g.75566791C>A	gnomAD
SERPINH1	P50454	p.Arg148Cys	rs61736330	missense variant	-	NC_000011.10:g.75566791C>T	gnomAD
SERPINH1	P50454	p.Arg148His	rs1266438725	missense variant	-	NC_000011.10:g.75566792G>A	gnomAD
SERPINH1	P50454	p.Ser149Gly	rs780165606	missense variant	-	NC_000011.10:g.75566794A>G	ExAC,gnomAD
SERPINH1	P50454	p.Lys151Arg	rs749386696	missense variant	-	NC_000011.10:g.75566801A>G	ExAC,gnomAD
SERPINH1	P50454	p.Gln152Arg	rs768946201	missense variant	-	NC_000011.10:g.75566804A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.His153Asn	rs1272289174	missense variant	-	NC_000011.10:g.75566806C>A	gnomAD
SERPINH1	P50454	p.His153Gln	rs1467115947	missense variant	-	NC_000011.10:g.75566808C>G	gnomAD
SERPINH1	P50454	p.Asn155Ser	rs747915459	missense variant	-	NC_000011.10:g.75566813A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Cys156Trp	rs1485550302	missense variant	-	NC_000011.10:g.75566817C>G	gnomAD
SERPINH1	P50454	p.Glu157Gly	rs1417004600	missense variant	-	NC_000011.10:g.75566819A>G	TOPMed
SERPINH1	P50454	p.Glu157Lys	rs1011028573	missense variant	-	NC_000011.10:g.75566818G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu157Gln	rs1011028573	missense variant	-	NC_000011.10:g.75566818G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Ser159Phe	rs771963597	missense variant	-	NC_000011.10:g.75566825C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys160Arg	rs1429500698	missense variant	-	NC_000011.10:g.75566828A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Lys160Asn	rs886048661	missense variant	-	NC_000011.10:g.75566829G>C	TOPMed
SERPINH1	P50454	p.Lys160Asn	RCV000309167	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566829G>C	ClinVar
SERPINH1	P50454	p.Ile161Leu	RCV000359789	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566830A>C	ClinVar
SERPINH1	P50454	p.Ile161Leu	rs112083274	missense variant	-	NC_000011.10:g.75566830A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn162Ser	rs760648204	missense variant	-	NC_000011.10:g.75566834A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn162Lys	rs770842307	missense variant	-	NC_000011.10:g.75566835C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asn162Lys	RCV000402192	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566835C>G	ClinVar
SERPINH1	P50454	p.Arg164Cys	rs776140347	missense variant	-	NC_000011.10:g.75566839C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg167His	rs762631686	missense variant	-	NC_000011.10:g.75566849G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg167Ser	rs764819709	missense variant	-	NC_000011.10:g.75566848C>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg167Cys	rs764819709	missense variant	-	NC_000011.10:g.75566848C>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala169Val	rs750807661	missense variant	-	NC_000011.10:g.75566855C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala169Thr	rs767898808	missense variant	-	NC_000011.10:g.75566854G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gln171Ter	rs1290424266	stop gained	-	NC_000011.10:g.75566860C>T	gnomAD
SERPINH1	P50454	p.Asn174Lys	rs1018770051	missense variant	-	NC_000011.10:g.75566871C>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu175Ter	rs766813083	stop gained	-	NC_000011.10:g.75566872G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu175Lys	rs766813083	missense variant	-	NC_000011.10:g.75566872G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu175Gln	rs766813083	missense variant	-	NC_000011.10:g.75566872G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala178Val	rs755143041	missense variant	-	NC_000011.10:g.75566882C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala178Thr	rs753922805	missense variant	-	NC_000011.10:g.75566881G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala178Ser	rs753922805	missense variant	-	NC_000011.10:g.75566881G>T	ExAC,gnomAD
SERPINH1	P50454	p.Gly183Ser	rs758606932	missense variant	-	NC_000011.10:g.75566896G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly183Asp	rs1156365701	missense variant	-	NC_000011.10:g.75566897G>A	gnomAD
SERPINH1	P50454	p.Gly183Arg	rs758606932	missense variant	-	NC_000011.10:g.75566896G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys184Asn	rs1346453724	missense variant	-	NC_000011.10:g.75566901G>T	gnomAD
SERPINH1	P50454	p.Thr189Ala	RCV000506069	missense variant	-	NC_000011.10:g.75566914A>G	ClinVar
SERPINH1	P50454	p.Thr189Ala	rs138784081	missense variant	-	NC_000011.10:g.75566914A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Thr189Ser	rs1416351184	missense variant	-	NC_000011.10:g.75566915C>G	gnomAD
SERPINH1	P50454	p.Thr189Ser	rs138784081	missense variant	-	NC_000011.10:g.75566914A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Lys190Met	rs1389377935	missense variant	-	NC_000011.10:g.75566918A>T	gnomAD
SERPINH1	P50454	p.Asp191Asn	rs1349927093	missense variant	-	NC_000011.10:g.75566920G>A	gnomAD
SERPINH1	P50454	p.Asp191Glu	rs745340617	missense variant	-	NC_000011.10:g.75566922C>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp191Gly	rs1221970463	missense variant	-	NC_000011.10:g.75566921A>G	gnomAD
SERPINH1	P50454	p.Asp191Glu	RCV000360883	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566922C>A	ClinVar
SERPINH1	P50454	p.Val192Gly	rs769259507	missense variant	-	NC_000011.10:g.75566924T>G	ExAC,gnomAD
SERPINH1	P50454	p.Val192Ala	rs769259507	missense variant	-	NC_000011.10:g.75566924T>C	ExAC,gnomAD
SERPINH1	P50454	p.GluArg193AspSer	rs797044674	missense variant	-	NC_000011.10:g.75566928_75566929delinsCA	-
SERPINH1	P50454	p.Glu193Asp	RCV000175692	missense variant	-	NC_000011.10:g.75566928G>C	ClinVar
SERPINH1	P50454	p.Glu193Ala	rs775027601	missense variant	-	NC_000011.10:g.75566927A>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu193Asp	rs559687602	missense variant	-	NC_000011.10:g.75566928G>C	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu193AspSer	RCV000175689	missense variant	-	NC_000011.10:g.75566928_75566929delinsCA	ClinVar
SERPINH1	P50454	p.Arg194Ser	rs141721173	missense variant	-	NC_000011.10:g.75566929C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg194Ser	RCV000763776	missense variant	Preterm premature rupture of membranes (PPROM)	NC_000011.10:g.75566929C>A	ClinVar
SERPINH1	P50454	p.Arg194Ser	RCV000175693	missense variant	-	NC_000011.10:g.75566929C>A	ClinVar
SERPINH1	P50454	p.Arg194Cys	rs141721173	missense variant	-	NC_000011.10:g.75566929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg194Ser	RCV000261310	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75566929C>A	ClinVar
SERPINH1	P50454	p.Asp196Glu	rs1232634716	missense variant	-	NC_000011.10:g.75566937C>A	gnomAD
SERPINH1	P50454	p.Gly197Arg	rs766872022	missense variant	-	NC_000011.10:g.75566938G>C	ExAC,gnomAD
SERPINH1	P50454	p.Gly197Cys	rs766872022	missense variant	-	NC_000011.10:g.75566938G>T	ExAC,gnomAD
SERPINH1	P50454	p.Gly197Val	rs755592285	missense variant	-	NC_000011.10:g.75566939G>T	ExAC,gnomAD
SERPINH1	P50454	p.Ala198Thr	rs908092360	missense variant	-	NC_000011.10:g.75566941G>A	gnomAD
SERPINH1	P50454	p.Asn202Lys	rs1245712905	missense variant	-	NC_000011.10:g.75566955C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Phe205Val	rs777869458	missense variant	-	NC_000011.10:g.75566962T>G	ExAC,gnomAD
SERPINH1	P50454	p.Phe206Leu	rs1377787259	missense variant	-	NC_000011.10:g.75566967C>A	gnomAD
SERPINH1	P50454	p.Pro208Ser	rs746767763	missense variant	-	NC_000011.10:g.75566971C>T	ExAC,gnomAD
SERPINH1	P50454	p.His209Gln	rs569867446	missense variant	-	NC_000011.10:g.75568735C>G	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.His209Tyr	rs755976024	missense variant	-	NC_000011.10:g.75568733C>T	ExAC,gnomAD
SERPINH1	P50454	p.His216Pro	rs1300712632	missense variant	-	NC_000011.10:g.75568755A>C	TOPMed
SERPINH1	P50454	p.Lys217Asn	rs1323744768	missense variant	-	NC_000011.10:g.75568759G>T	TOPMed,gnomAD
SERPINH1	P50454	p.Met218Val	rs1396795405	missense variant	-	NC_000011.10:g.75568760A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Val219Met	rs1387383541	missense variant	-	NC_000011.10:g.75568763G>A	gnomAD
SERPINH1	P50454	p.Val219Ala	rs1159867029	missense variant	-	NC_000011.10:g.75568764T>C	TOPMed
SERPINH1	P50454	p.Asn221Asp	rs778537327	missense variant	-	NC_000011.10:g.75568769A>G	ExAC,gnomAD
SERPINH1	P50454	p.Asn221Tyr	rs778537327	missense variant	-	NC_000011.10:g.75568769A>T	ExAC,gnomAD
SERPINH1	P50454	p.Arg222His	rs771916875	missense variant	-	NC_000011.10:g.75568773G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg222Cys	rs747743316	missense variant	-	NC_000011.10:g.75568772C>T	ExAC,gnomAD
SERPINH1	P50454	p.Arg222Ser	rs747743316	missense variant	-	NC_000011.10:g.75568772C>A	ExAC,gnomAD
SERPINH1	P50454	p.Met225Val	rs928526391	missense variant	-	NC_000011.10:g.75568781A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Val226Met	rs1275556617	missense variant	-	NC_000011.10:g.75568784G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Arg228Gln	rs759994312	missense variant	-	NC_000011.10:g.75568791G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg228Pro	rs759994312	missense variant	-	NC_000011.10:g.75568791G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Tyr230Cys	rs1260400078	missense variant	-	NC_000011.10:g.75568797A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Thr231Ile	rs1218823155	missense variant	-	NC_000011.10:g.75568800C>T	TOPMed
SERPINH1	P50454	p.Val232Gly	rs763555596	missense variant	-	NC_000011.10:g.75568803T>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val232Met	rs534696801	missense variant	-	NC_000011.10:g.75568802G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gly233Asp	rs1162741198	missense variant	-	NC_000011.10:g.75568806G>A	gnomAD
SERPINH1	P50454	p.Met235Ile	rs764058290	missense variant	-	NC_000011.10:g.75568813G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met235Ile	rs764058290	missense variant	-	NC_000011.10:g.75568813G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met237Thr	rs886039819	missense variant	-	NC_000011.10:g.75568818T>C	-
SERPINH1	P50454	p.Met237Thr	RCV000256253	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75568818T>C	ClinVar
SERPINH1	P50454	p.Met237Ile	rs1458326459	missense variant	-	NC_000011.10:g.75568819G>A	gnomAD
SERPINH1	P50454	p.His238Gln	rs761932276	missense variant	-	NC_000011.10:g.75568822C>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg239Leu	RCV000376278	missense variant	-	NC_000011.10:g.75568824G>T	ClinVar
SERPINH1	P50454	p.Arg239Leu	rs750157727	missense variant	-	NC_000011.10:g.75568824G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg239Gln	rs750157727	missense variant	-	NC_000011.10:g.75568824G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg239Trp	rs767729275	missense variant	-	NC_000011.10:g.75568823C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly241Val	rs767688879	missense variant	-	NC_000011.10:g.75568939G>T	ExAC,gnomAD
SERPINH1	P50454	p.Leu242Phe	rs1195158034	missense variant	-	NC_000011.10:g.75568941C>T	gnomAD
SERPINH1	P50454	p.Asn244Thr	rs773393677	missense variant	-	NC_000011.10:g.75568948A>C	ExAC,gnomAD
SERPINH1	P50454	p.Asn244Ser	rs773393677	missense variant	-	NC_000011.10:g.75568948A>G	ExAC,gnomAD
SERPINH1	P50454	p.Asp247Asn	rs753734711	missense variant	-	NC_000011.10:g.75568956G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp248His	rs765236669	missense variant	-	NC_000011.10:g.75568959G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp248Asn	rs765236669	missense variant	-	NC_000011.10:g.75568959G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu249Asp	rs542837557	missense variant	-	NC_000011.10:g.75568964G>C	1000Genomes
SERPINH1	P50454	p.Glu249Gln	rs1296984761	missense variant	-	NC_000011.10:g.75568962G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Glu249Gly	rs777463655	missense variant	-	NC_000011.10:g.75568963A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu249Lys	rs1296984761	missense variant	-	NC_000011.10:g.75568962G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Glu251Lys	rs553118941	missense variant	-	NC_000011.10:g.75568968G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu253Pro	rs1331519111	missense variant	-	NC_000011.10:g.75568975T>C	gnomAD
SERPINH1	P50454	p.Gln254Glu	rs757027235	missense variant	-	NC_000011.10:g.75568977C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val256Met	rs749664592	missense variant	-	NC_000011.10:g.75568983G>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu257Asp	rs1015978540	missense variant	-	NC_000011.10:g.75568988G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Met258Ile	rs1249374274	missense variant	-	NC_000011.10:g.75568991G>A	gnomAD
SERPINH1	P50454	p.Pro259Thr	rs1459090987	missense variant	-	NC_000011.10:g.75568992C>A	gnomAD
SERPINH1	P50454	p.Pro259Leu	rs768984519	missense variant	-	NC_000011.10:g.75568993C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu260Val	rs774942194	missense variant	-	NC_000011.10:g.75568995C>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala261Thr	rs748697715	missense variant	-	NC_000011.10:g.75568998G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ala261Gly	rs201644679	missense variant	-	NC_000011.10:g.75568999C>G	1000Genomes,TOPMed
SERPINH1	P50454	p.Leu264Phe	rs1302597191	missense variant	-	NC_000011.10:g.75569007C>T	gnomAD
SERPINH1	P50454	p.Ser265Pro	rs1426078525	missense variant	-	NC_000011.10:g.75569010T>C	gnomAD
SERPINH1	P50454	p.Ser266Thr	rs772119590	missense variant	-	NC_000011.10:g.75569014G>C	ExAC,gnomAD
SERPINH1	P50454	p.Ile268Thr	rs887118799	missense variant	-	NC_000011.10:g.75569020T>C	TOPMed
SERPINH1	P50454	p.Val275Met	rs199679249	missense variant	-	NC_000011.10:g.75569040G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val275Leu	rs199679249	missense variant	-	NC_000011.10:g.75569040G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val275Met	RCV000326079	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75569040G>A	ClinVar
SERPINH1	P50454	p.Glu276Ala	RCV000757757	missense variant	-	NC_000011.10:g.75569044A>C	ClinVar
SERPINH1	P50454	p.Glu276Ala	rs148613550	missense variant	-	NC_000011.10:g.75569044A>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu276Lys	rs776233451	missense variant	-	NC_000011.10:g.75569043G>A	ExAC,gnomAD
SERPINH1	P50454	p.Pro277His	rs1276134932	missense variant	-	NC_000011.10:g.75569047C>A	gnomAD
SERPINH1	P50454	p.Pro277Thr	rs765044030	missense variant	-	NC_000011.10:g.75569046C>A	ExAC,gnomAD
SERPINH1	P50454	p.Glu279Lys	rs758458147	missense variant	-	NC_000011.10:g.75569052G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu279Gln	rs758458147	missense variant	-	NC_000011.10:g.75569052G>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg280Cys	rs200572997	missense variant	-	NC_000011.10:g.75569055C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg280His	rs370057420	missense variant	-	NC_000011.10:g.75569056G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg280Ser	rs200572997	missense variant	-	NC_000011.10:g.75569055C>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu281Phe	rs1379043592	missense variant	-	NC_000011.10:g.75569058C>T	TOPMed
SERPINH1	P50454	p.Glu282Lys	rs755341831	missense variant	-	NC_000011.10:g.75569061G>A	ExAC
SERPINH1	P50454	p.Lys287Glu	rs1265806916	missense variant	-	NC_000011.10:g.75569076A>G	gnomAD
SERPINH1	P50454	p.Lys287Gln	rs1265806916	missense variant	-	NC_000011.10:g.75569076A>C	gnomAD
SERPINH1	P50454	p.Glu288Lys	rs369751579	missense variant	-	NC_000011.10:g.75569079G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ile292Met	rs771012011	missense variant	-	NC_000011.10:g.75569093C>G	ExAC,gnomAD
SERPINH1	P50454	p.Trp293Arg	rs776944994	missense variant	-	NC_000011.10:g.75569094T>C	ExAC,TOPMed
SERPINH1	P50454	p.Met294Ile	rs759715144	missense variant	-	NC_000011.10:g.75569099G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gly295Arg	rs1452624175	missense variant	-	NC_000011.10:g.75569100G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Gly295Arg	rs1452624175	missense variant	-	NC_000011.10:g.75569100G>C	TOPMed,gnomAD
SERPINH1	P50454	p.Met297Ile	rs200106884	missense variant	-	NC_000011.10:g.75569108G>A	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Met297Ile	rs200106884	missense variant	-	NC_000011.10:g.75569108G>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Lys300Arg	rs1173430313	missense variant	-	NC_000011.10:g.75569116A>G	TOPMed
SERPINH1	P50454	p.Ala301Gly	rs764127543	missense variant	-	NC_000011.10:g.75569119C>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala303Thr	rs751052033	missense variant	-	NC_000011.10:g.75569124G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ser305Pro	rs549207386	missense variant	-	NC_000011.10:g.75569130T>C	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Ser305Cys	rs767034212	missense variant	-	NC_000011.10:g.75569131C>G	ExAC,gnomAD
SERPINH1	P50454	p.Leu306Ter	RCV000778338	frameshift	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75569135del	ClinVar
SERPINH1	P50454	p.Lys308Arg	rs142663000	missense variant	-	NC_000011.10:g.75569140A>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly309Cys	rs779248122	missense variant	-	NC_000011.10:g.75569142G>T	ExAC,gnomAD
SERPINH1	P50454	p.Gly309Val	rs753068848	missense variant	-	NC_000011.10:g.75569143G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly309Asp	rs753068848	missense variant	-	NC_000011.10:g.75569143G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val311Leu	rs1474093032	missense variant	-	NC_000011.10:g.75569148G>T	gnomAD
SERPINH1	P50454	p.Glu312Lys	rs1413894809	missense variant	-	NC_000011.10:g.75569151G>A	gnomAD
SERPINH1	P50454	p.Thr314Ile	rs747053861	missense variant	-	NC_000011.10:g.75569158C>T	ExAC,gnomAD
SERPINH1	P50454	p.Gln318Ter	rs1440784485	stop gained	-	NC_000011.10:g.75569169C>T	TOPMed
SERPINH1	P50454	p.Leu321Ter	RCV000343835	frameshift	-	NC_000011.10:g.75571787del	ClinVar
SERPINH1	P50454	p.Ala322Thr	rs781326376	missense variant	-	NC_000011.10:g.75571790G>A	ExAC,gnomAD
SERPINH1	P50454	p.Gly323Glu	rs144791057	missense variant	-	NC_000011.10:g.75571794G>A	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu324Met	rs1437455313	missense variant	-	NC_000011.10:g.75571796C>A	gnomAD
SERPINH1	P50454	p.Leu326Val	rs1270038150	missense variant	-	NC_000011.10:g.75571802C>G	gnomAD
SERPINH1	P50454	p.Thr327Ala	rs780442561	missense variant	-	NC_000011.10:g.75571805A>G	ExAC,gnomAD
SERPINH1	P50454	p.Glu328Lys	rs749048421	missense variant	-	NC_000011.10:g.75571808G>A	ExAC,gnomAD
SERPINH1	P50454	p.Asp331Glu	rs774348484	missense variant	-	NC_000011.10:g.75571819C>A	ExAC,gnomAD
SERPINH1	P50454	p.Lys332Asn	rs147936395	missense variant	-	NC_000011.10:g.75571822G>C	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Lys332Glu	rs1208775353	missense variant	-	NC_000011.10:g.75571820A>G	gnomAD
SERPINH1	P50454	p.Asp336Asn	rs771911618	missense variant	-	NC_000011.10:g.75571832G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser338Pro	rs995057062	missense variant	-	NC_000011.10:g.75571838T>C	TOPMed
SERPINH1	P50454	p.Arg339His	RCV000346063	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75571842G>A	ClinVar
SERPINH1	P50454	p.Arg339Cys	rs760125834	missense variant	-	NC_000011.10:g.75571841C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg339His	rs535510332	missense variant	-	NC_000011.10:g.75571842G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg339Leu	rs535510332	missense variant	-	NC_000011.10:g.75571842G>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Met340Val	rs899357876	missense variant	-	NC_000011.10:g.75571844A>G	TOPMed,gnomAD
SERPINH1	P50454	p.Met340Ile	rs201416803	missense variant	-	NC_000011.10:g.75571846G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Leu348Val	rs757716271	missense variant	-	NC_000011.10:g.75571868C>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala349Asp	rs1317813949	missense variant	-	NC_000011.10:g.75571872C>A	gnomAD
SERPINH1	P50454	p.Ser350Thr	rs150431930	missense variant	-	NC_000011.10:g.75571875G>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val351Met	rs368336245	missense variant	-	NC_000011.10:g.75571877G>A	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val351Met	RCV000178839	missense variant	-	NC_000011.10:g.75571877G>A	ClinVar
SERPINH1	P50454	p.Phe352Tyr	rs1355427520	missense variant	-	NC_000011.10:g.75571881T>A	gnomAD
SERPINH1	P50454	p.His353Arg	rs780318111	missense variant	-	NC_000011.10:g.75571884A>G	ExAC,gnomAD
SERPINH1	P50454	p.Ala354Val	rs1210096447	missense variant	-	NC_000011.10:g.75571887C>T	TOPMed,gnomAD
SERPINH1	P50454	p.Ala354Thr	rs369550626	missense variant	-	NC_000011.10:g.75571886G>A	ESP,ExAC,gnomAD
SERPINH1	P50454	p.Ala354Gly	rs1210096447	missense variant	-	NC_000011.10:g.75571887C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Ala356Thr	rs747912977	missense variant	-	NC_000011.10:g.75571892G>A	ExAC,gnomAD
SERPINH1	P50454	p.Leu359Phe	rs771997683	missense variant	-	NC_000011.10:g.75571903G>C	ExAC,gnomAD
SERPINH1	P50454	p.Asp362His	rs1202285973	missense variant	-	NC_000011.10:g.75571910G>C	TOPMed
SERPINH1	P50454	p.Asp362Glu	rs1268337790	missense variant	-	NC_000011.10:g.75571912T>A	gnomAD
SERPINH1	P50454	p.Asn364Lys	rs1263626738	missense variant	-	NC_000011.10:g.75571918C>G	TOPMed,gnomAD
SERPINH1	P50454	p.Pro365Leu	rs574281910	missense variant	-	NC_000011.10:g.75571920C>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Phe366Ser	rs747009311	missense variant	-	NC_000011.10:g.75571923T>C	ExAC,gnomAD
SERPINH1	P50454	p.Ile370Thr	rs758312076	missense variant	-	NC_000011.10:g.75571935T>C	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Gly372Arg	rs200180052	missense variant	-	NC_000011.10:g.75571940G>A	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg373His	rs774719472	missense variant	-	NC_000011.10:g.75571944G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg373Cys	rs764873155	missense variant	-	NC_000011.10:g.75571943C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu374Asp	rs750860974	missense variant	-	NC_000011.10:g.75571948G>C	ExAC,gnomAD
SERPINH1	P50454	p.Glu374Lys	rs768025277	missense variant	-	NC_000011.10:g.75571946G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu375Ter	rs577035420	stop gained	-	NC_000011.10:g.75571949G>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Glu375Val	rs545800102	missense variant	-	NC_000011.10:g.75571950A>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Glu375Lys	rs577035420	missense variant	-	NC_000011.10:g.75571949G>A	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Glu375Asp	rs562306544	missense variant	-	NC_000011.10:g.75571951G>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Arg377His	rs779029499	missense variant	-	NC_000011.10:g.75571956G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg377Cys	rs576211302	missense variant	-	NC_000011.10:g.75571955C>T	1000Genomes,ExAC,gnomAD
SERPINH1	P50454	p.Lys380Gln	rs935830138	missense variant	-	NC_000011.10:g.75571964A>C	TOPMed,gnomAD
SERPINH1	P50454	p.Lys380Arg	rs758098270	missense variant	-	NC_000011.10:g.75571965A>G	ExAC,TOPMed
SERPINH1	P50454	p.Leu381Val	rs1258116556	missense variant	-	NC_000011.10:g.75571967C>G	gnomAD
SERPINH1	P50454	p.Tyr383Asn	rs746933828	missense variant	-	NC_000011.10:g.75571973T>A	ExAC,gnomAD
SERPINH1	P50454	p.Ala384Thr	rs200974428	missense variant	-	NC_000011.10:g.75571976G>A	ExAC,gnomAD
SERPINH1	P50454	p.Ile389Val	rs775032765	missense variant	-	NC_000011.10:g.75571991A>G	ExAC,gnomAD
SERPINH1	P50454	p.Leu391Pro	rs1251965369	missense variant	-	NC_000011.10:g.75571998T>C	TOPMed
SERPINH1	P50454	p.Leu391Val	rs1403593010	missense variant	-	NC_000011.10:g.75571997C>G	gnomAD
SERPINH1	P50454	p.Arg393Trp	rs527863136	missense variant	-	NC_000011.10:g.75572003C>T	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg393Gln	rs772299825	missense variant	-	NC_000011.10:g.75572004G>A	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Thr395Ala	rs1448534764	missense variant	-	NC_000011.10:g.75572009A>G	gnomAD
SERPINH1	P50454	p.Gly398Ser	rs1045176937	missense variant	-	NC_000011.10:g.75572018G>A	TOPMed,gnomAD
SERPINH1	P50454	p.Gly398Val	rs765402376	missense variant	-	NC_000011.10:g.75572019G>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ser399Phe	rs376520307	missense variant	-	NC_000011.10:g.75572022C>T	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Ser399Tyr	rs376520307	missense variant	-	NC_000011.10:g.75572022C>A	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Leu400Gln	rs943602399	missense variant	-	NC_000011.10:g.75572025T>A	gnomAD
SERPINH1	P50454	p.Leu400Pro	rs943602399	missense variant	-	NC_000011.10:g.75572025T>C	gnomAD
SERPINH1	P50454	p.Leu401Val	rs547644799	missense variant	-	NC_000011.10:g.75572027C>G	1000Genomes
SERPINH1	P50454	p.Ile403Thr	rs201566218	missense variant	-	NC_000011.10:g.75572034T>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Ile403Val	rs758706956	missense variant	-	NC_000011.10:g.75572033A>G	ExAC,gnomAD
SERPINH1	P50454	p.Ile403Thr	RCV000377379	missense variant	Osteogenesis Imperfecta, Recessive	NC_000011.10:g.75572034T>C	ClinVar
SERPINH1	P50454	p.Arg405His	rs781125078	missense variant	-	NC_000011.10:g.75572040G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg405His	RCV000656724	missense variant	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75572040G>A	ClinVar
SERPINH1	P50454	p.Arg405Cys	rs757124438	missense variant	-	NC_000011.10:g.75572039C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Val407Leu	rs138241050	missense variant	-	NC_000011.10:g.75572045G>C	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg408Trp	rs769154335	missense variant	-	NC_000011.10:g.75572048C>T	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Arg408Gln	rs371699925	missense variant	-	NC_000011.10:g.75572049G>A	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Pro409Ala	rs1448285880	missense variant	-	NC_000011.10:g.75572051C>G	gnomAD
SERPINH1	P50454	p.Lys410Glu	rs773655408	missense variant	-	NC_000011.10:g.75572054A>G	ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp412Glu	rs200334001	missense variant	-	NC_000011.10:g.75572062C>G	1000Genomes,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Asp412Ter	RCV000779627	nonsense	Osteogenesis imperfecta type 10 (OI10)	NC_000011.10:g.75572059dup	ClinVar
SERPINH1	P50454	p.Asp412Asn	rs761143786	missense variant	-	NC_000011.10:g.75572060G>A	ExAC,gnomAD
SERPINH1	P50454	p.Lys413Arg	rs777250907	missense variant	-	NC_000011.10:g.75572064A>G	ExAC,gnomAD
SERPINH1	P50454	p.Met414Thr	rs1345847003	missense variant	-	NC_000011.10:g.75572067T>C	gnomAD
SERPINH1	P50454	p.Arg415Gln	rs760141322	missense variant	-	NC_000011.10:g.75572070G>A	ExAC,gnomAD
SERPINH1	P50454	p.Arg415Gly	rs149137596	missense variant	-	NC_000011.10:g.75572069C>G	ESP,TOPMed,gnomAD
SERPINH1	P50454	p.Asp416Glu	rs145015985	missense variant	-	NC_000011.10:g.75572074C>G	ESP,ExAC,TOPMed,gnomAD
SERPINH1	P50454	p.Glu417Lys	rs1292850878	missense variant	-	NC_000011.10:g.75572075G>A	gnomAD
MMP16	P51512	p.Ile2Thr	rs780907693	missense variant	-	NC_000008.11:g.88327202A>G	ExAC,gnomAD
MMP16	P51512	p.Ile2Asn	rs780907693	missense variant	-	NC_000008.11:g.88327202A>T	ExAC,gnomAD
MMP16	P51512	p.Leu4Phe	rs1475032153	missense variant	-	NC_000008.11:g.88327197G>A	gnomAD
MMP16	P51512	p.Thr8Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88327184G>C	NCI-TCGA
MMP16	P51512	p.Thr8Ala	rs746562635	missense variant	-	NC_000008.11:g.88327185T>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Thr8Ile	rs199761222	missense variant	-	NC_000008.11:g.88327184G>A	1000Genomes,ExAC,gnomAD
MMP16	P51512	p.Gly9Arg	rs1216621802	missense variant	-	NC_000008.11:g.88327182C>T	gnomAD
MMP16	P51512	p.Arg11Gly	COSM4928728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88327176G>C	NCI-TCGA Cosmic
MMP16	P51512	p.Asp13Tyr	rs1353335466	missense variant	-	NC_000008.11:g.88327170C>A	TOPMed
MMP16	P51512	p.His17Asn	rs1217677523	missense variant	-	NC_000008.11:g.88327158G>T	gnomAD
MMP16	P51512	p.Ser18Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88327154G>A	NCI-TCGA
MMP16	P51512	p.Gly19Arg	rs764876063	missense variant	-	NC_000008.11:g.88327152C>G	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Val20CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.88327149C>-	NCI-TCGA
MMP16	P51512	p.Leu23Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88327139A>G	NCI-TCGA
MMP16	P51512	p.Leu23Phe	rs1272332781	missense variant	-	NC_000008.11:g.88327138C>G	TOPMed,gnomAD
MMP16	P51512	p.Leu23Val	COSM3901938	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88327140A>C	NCI-TCGA Cosmic
MMP16	P51512	p.Thr25Ala	rs757088495	missense variant	-	NC_000008.11:g.88327134T>C	ExAC,gnomAD
MMP16	P51512	p.Leu26Trp	rs912293325	missense variant	-	NC_000008.11:g.88327130A>C	gnomAD
MMP16	P51512	p.Leu26Phe	rs1256898559	missense variant	-	NC_000008.11:g.88327129C>G	TOPMed
MMP16	P51512	p.Leu27Phe	rs1170557742	missense variant	-	NC_000008.11:g.88327128G>A	gnomAD
MMP16	P51512	p.Leu30Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.88327118A>C	NCI-TCGA
MMP16	P51512	p.Leu30Phe	rs764331119	missense variant	-	NC_000008.11:g.88327117T>G	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Leu30Val	rs559124187	missense variant	-	NC_000008.11:g.88327119A>C	1000Genomes,ExAC,gnomAD
MMP16	P51512	p.Cys31Arg	rs949006928	missense variant	-	NC_000008.11:g.88327116A>G	TOPMed
MMP16	P51512	p.Cys31Tyr	rs760714827	missense variant	-	NC_000008.11:g.88327115C>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Thr33Ala	rs775594263	missense variant	-	NC_000008.11:g.88327110T>C	ExAC,gnomAD
MMP16	P51512	p.Val34Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88327107C>G	NCI-TCGA
MMP16	P51512	p.Val34Phe	rs145799922	missense variant	-	NC_000008.11:g.88327107C>A	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Cys35Arg	rs1293332514	missense variant	-	NC_000008.11:g.88327104A>G	gnomAD
MMP16	P51512	p.Gly36Arg	rs201235027	missense variant	-	NC_000008.11:g.88327101C>T	TOPMed
MMP16	P51512	p.Thr37Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88327097G>A	NCI-TCGA
MMP16	P51512	p.Glu38Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88327093C>A	NCI-TCGA
MMP16	P51512	p.Glu38Lys	rs1173842074	missense variant	-	NC_000008.11:g.88327095C>T	TOPMed
MMP16	P51512	p.Tyr40Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88327088T>C	NCI-TCGA
MMP16	P51512	p.Asn42Ser	rs771138953	missense variant	-	NC_000008.11:g.88327082T>C	ExAC,gnomAD
MMP16	P51512	p.Gly51Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88197288C>T	NCI-TCGA
MMP16	P51512	p.Gly51Asp	COSM3651625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197287C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Gly51Cys	COSM751493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197288C>A	NCI-TCGA Cosmic
MMP16	P51512	p.TyrLeuPro52Ter	rs1403348162	stop gained	-	NC_000008.11:g.88197278_88197283del	ESP
MMP16	P51512	p.Tyr52Ter	rs756484176	stop gained	-	NC_000008.11:g.88197284dup	ExAC
MMP16	P51512	p.Tyr52Ter	rs200374626	stop gained	-	NC_000008.11:g.88197283G>T	ExAC,gnomAD
MMP16	P51512	p.Leu53Pro	rs781495752	missense variant	-	NC_000008.11:g.88197281A>G	ExAC
MMP16	P51512	p.Pro54Ser	rs754968955	missense variant	-	NC_000008.11:g.88197279G>A	ExAC
MMP16	P51512	p.Pro54Gln	rs751713792	missense variant	-	NC_000008.11:g.88197278G>T	ExAC
MMP16	P51512	p.Pro55Ala	rs371768034	missense variant	-	NC_000008.11:g.88197276G>C	1000Genomes,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Pro55Ser	rs371768034	missense variant	-	NC_000008.11:g.88197276G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Pro55Arg	rs765641487	missense variant	-	NC_000008.11:g.88197275G>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Pro55Leu	rs765641487	missense variant	-	NC_000008.11:g.88197275G>A	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Asp57Glu	rs1476934120	missense variant	-	NC_000008.11:g.88197268G>C	TOPMed,gnomAD
MMP16	P51512	p.Pro58Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88197267G>A	NCI-TCGA
MMP16	P51512	p.Pro58Leu	COSM131391	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197266G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Ser61Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88197257G>A	NCI-TCGA
MMP16	P51512	p.Leu63Met	COSM3901937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197252G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Arg64His	rs373603451	missense variant	-	NC_000008.11:g.88197248C>T	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg64Cys	rs758946094	missense variant	-	NC_000008.11:g.88197249G>A	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Glu67Asp	COSM3432600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197238C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Thr68Ile	rs1213795620	missense variant	-	NC_000008.11:g.88197236G>A	gnomAD
MMP16	P51512	p.Gln70Arg	COSM1569516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197230T>C	NCI-TCGA Cosmic
MMP16	P51512	p.Leu73Pro	rs1014944012	missense variant	-	NC_000008.11:g.88197221A>G	TOPMed
MMP16	P51512	p.Leu73Val	rs747965900	missense variant	-	NC_000008.11:g.88197222G>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Leu73Ile	rs747965900	missense variant	-	NC_000008.11:g.88197222G>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Met76Thr	COSM297696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197212A>G	NCI-TCGA Cosmic
MMP16	P51512	p.Gln77His	rs781251258	missense variant	-	NC_000008.11:g.88197208C>G	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Tyr80Cys	rs751591448	missense variant	-	NC_000008.11:g.88197200T>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Asn83Thr	COSM3726296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197191T>G	NCI-TCGA Cosmic
MMP16	P51512	p.Met84Val	rs1169511853	missense variant	-	NC_000008.11:g.88197189T>C	TOPMed
MMP16	P51512	p.Met84Lys	COSM1458539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197188A>T	NCI-TCGA Cosmic
MMP16	P51512	p.Gly86Glu	COSM1700328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197182C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Asp89Gly	COSM120101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88197173T>C	NCI-TCGA Cosmic
MMP16	P51512	p.Asn91Ser	rs780118679	missense variant	-	NC_000008.11:g.88197167T>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Ile93Val	rs758566345	missense variant	-	NC_000008.11:g.88197162T>C	ExAC,gnomAD
MMP16	P51512	p.Ile93Thr	rs375880255	missense variant	-	NC_000008.11:g.88197161A>G	ESP,TOPMed
MMP16	P51512	p.Lys97Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88186589C>A	NCI-TCGA
MMP16	P51512	p.Lys97Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88186591T>C	NCI-TCGA
MMP16	P51512	p.Lys98Asn	rs1402438624	missense variant	-	NC_000008.11:g.88186586C>A	TOPMed,gnomAD
MMP16	P51512	p.Pro99Leu	rs773090533	missense variant	-	NC_000008.11:g.88186584G>A	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg100Gln	rs145712283	missense variant	-	NC_000008.11:g.88186581C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg100Leu	rs145712283	missense variant	-	NC_000008.11:g.88186581C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg100Ter	rs747928115	stop gained	-	NC_000008.11:g.88186582G>A	ExAC,gnomAD
MMP16	P51512	p.Gly102Ser	rs780162250	missense variant	-	NC_000008.11:g.88186576C>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Asp105Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88186567C>T	NCI-TCGA
MMP16	P51512	p.Gln106Phe	NCI-TCGA novel	insertion	-	NC_000008.11:g.88186561_88186562insAAA	NCI-TCGA
MMP16	P51512	p.Gln106LeuGluTer	NCI-TCGA novel	stop gained	-	NC_000008.11:g.88186563_88186564insATTCCA	NCI-TCGA
MMP16	P51512	p.Arg108Lys	rs758515051	missense variant	-	NC_000008.11:g.88186557C>T	ExAC,gnomAD
MMP16	P51512	p.Arg108Gly	rs1181413511	missense variant	-	NC_000008.11:g.88186558T>C	gnomAD
MMP16	P51512	p.Gly109Ser	rs1233880609	missense variant	-	NC_000008.11:g.88186555C>T	TOPMed
MMP16	P51512	p.Lys112Gln	rs745987268	missense variant	-	NC_000008.11:g.88186546T>G	ExAC,TOPMed,gnomAD
MMP16	P51512	p.His114Arg	rs779538464	missense variant	-	NC_000008.11:g.88186539T>C	ExAC,gnomAD
MMP16	P51512	p.His114Tyr	COSM422043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88186540G>A	NCI-TCGA Cosmic
MMP16	P51512	p.His114Asn	COSM1102290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88186540G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Ile115Thr	rs1373463653	missense variant	-	NC_000008.11:g.88186536A>G	TOPMed,gnomAD
MMP16	P51512	p.Arg116His	COSM1624251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88186533C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Arg116Cys	COSM1102289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88186534G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Arg117Gln	rs757895279	missense variant	-	NC_000008.11:g.88186530C>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg117Ter	COSM1102288	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.88186531G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Arg119Gly	rs754148277	missense variant	-	NC_000008.11:g.88186525G>C	ExAC,gnomAD
MMP16	P51512	p.Arg119Gln	COSM4544426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88186524C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Arg119Ter	COSM751494	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.88186525G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Ala121Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88186519C>T	NCI-TCGA
MMP16	P51512	p.Ala121Ser	rs1311546563	missense variant	-	NC_000008.11:g.88186519C>A	gnomAD
MMP16	P51512	p.Gln128His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88186496C>A	NCI-TCGA
MMP16	P51512	p.Gln128Lys	COSM6181821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88186498G>T	NCI-TCGA Cosmic
MMP16	P51512	p.His129Tyr	rs1352791560	missense variant	-	NC_000008.11:g.88186495G>A	gnomAD
MMP16	P51512	p.Lys130Arg	rs1331980989	missense variant	-	NC_000008.11:g.88186491T>C	gnomAD
MMP16	P51512	p.Lys130Glu	rs1172667092	missense variant	-	NC_000008.11:g.88186492T>C	TOPMed,gnomAD
MMP16	P51512	p.Thr133Ser	rs756445504	missense variant	-	NC_000008.11:g.88186483T>A	ExAC,gnomAD
MMP16	P51512	p.Tyr134Ter	COSM6181822	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.88186478G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Ile136Leu	rs1382078614	missense variant	-	NC_000008.11:g.88167972T>A	TOPMed
MMP16	P51512	p.Lys137Asn	rs1201596629	missense variant	-	NC_000008.11:g.88167967C>A	gnomAD
MMP16	P51512	p.Val139Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167962A>G	NCI-TCGA
MMP16	P51512	p.Val139Ile	rs147772248	missense variant	-	NC_000008.11:g.88167963C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Thr140Ser	rs1219802631	missense variant	-	NC_000008.11:g.88167960T>A	gnomAD
MMP16	P51512	p.Pro141Arg	COSM751495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167956G>C	NCI-TCGA Cosmic
MMP16	P51512	p.Val143Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167951C>A	NCI-TCGA
MMP16	P51512	p.Asp145Glu	rs377728837	missense variant	-	NC_000008.11:g.88167943G>T	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Asp145Gly	rs1479466584	missense variant	-	NC_000008.11:g.88167944T>C	TOPMed,gnomAD
MMP16	P51512	p.Pro146Leu	rs1215318434	missense variant	-	NC_000008.11:g.88167941G>A	gnomAD
MMP16	P51512	p.Pro146His	COSM6114145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167941G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Glu147Ter	COSM4913282	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.88167939C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Arg149Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167933G>A	NCI-TCGA
MMP16	P51512	p.Arg149His	rs753769443	missense variant	-	NC_000008.11:g.88167932C>T	ExAC,gnomAD
MMP16	P51512	p.Arg149Leu	COSM389664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167932C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Ala151Ser	COSM1102287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167927C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Ile152Val	rs1450164048	missense variant	-	NC_000008.11:g.88167924T>C	TOPMed
MMP16	P51512	p.Arg153His	rs754978084	missense variant	-	NC_000008.11:g.88167920C>T	ExAC,gnomAD
MMP16	P51512	p.Arg153Cys	COSM4839407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167921G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Arg154His	rs760497058	missense variant	-	NC_000008.11:g.88167917C>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg154Cys	rs1233813645	missense variant	-	NC_000008.11:g.88167918G>A	gnomAD
MMP16	P51512	p.Asp157Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167909C>A	NCI-TCGA
MMP16	P51512	p.Asp157Gly	rs1336244945	missense variant	-	NC_000008.11:g.88167908T>C	TOPMed
MMP16	P51512	p.Asp157His	COSM4852748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167909C>G	NCI-TCGA Cosmic
MMP16	P51512	p.Val158Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167905A>C	NCI-TCGA
MMP16	P51512	p.Val158Ala	rs775481555	missense variant	-	NC_000008.11:g.88167905A>G	ExAC,gnomAD
MMP16	P51512	p.Trp159Ser	COSM751496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167902C>G	NCI-TCGA Cosmic
MMP16	P51512	p.Gln160Arg	rs940310916	missense variant	-	NC_000008.11:g.88167899T>C	gnomAD
MMP16	P51512	p.Val162Ile	rs1260245087	missense variant	-	NC_000008.11:g.88167894C>T	TOPMed
MMP16	P51512	p.Thr166Ile	rs909356477	missense variant	-	NC_000008.11:g.88167881G>A	TOPMed
MMP16	P51512	p.Pro171Leu	rs1174838677	missense variant	-	NC_000008.11:g.88167866G>A	gnomAD
MMP16	P51512	p.Ser173Asn	rs774726745	missense variant	-	NC_000008.11:g.88167860C>T	ExAC,gnomAD
MMP16	P51512	p.Ser173Gly	rs148641870	missense variant	-	NC_000008.11:g.88167861T>C	ESP,TOPMed
MMP16	P51512	p.Glu174Val	rs1461193311	missense variant	-	NC_000008.11:g.88167857T>A	TOPMed
MMP16	P51512	p.Asn177His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167849T>G	NCI-TCGA
MMP16	P51512	p.Gly178Ser	rs1197786920	missense variant	-	NC_000008.11:g.88167846C>T	TOPMed,gnomAD
MMP16	P51512	p.Gly178Val	rs1478992446	missense variant	-	NC_000008.11:g.88167845C>A	TOPMed,gnomAD
MMP16	P51512	p.Gly178Asp	rs1478992446	missense variant	-	NC_000008.11:g.88167845C>T	TOPMed,gnomAD
MMP16	P51512	p.Gly178Arg	rs1197786920	missense variant	-	NC_000008.11:g.88167846C>G	TOPMed,gnomAD
MMP16	P51512	p.Lys179Arg	rs749353622	missense variant	-	NC_000008.11:g.88167842T>C	ExAC,gnomAD
MMP16	P51512	p.Arg180His	rs770249742	missense variant	-	NC_000008.11:g.88167839C>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg180Cys	rs778310030	missense variant	-	NC_000008.11:g.88167840G>A	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Asp181Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167837C>T	NCI-TCGA
MMP16	P51512	p.Asp181Gly	rs748544150	missense variant	-	NC_000008.11:g.88167836T>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Ile187Thr	rs1404891577	missense variant	-	NC_000008.11:g.88167818A>G	TOPMed
MMP16	P51512	p.Ile187Ser	COSM3651622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167818A>C	NCI-TCGA Cosmic
MMP16	P51512	p.Ile187Leu	COSM3651623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167819T>G	NCI-TCGA Cosmic
MMP16	P51512	p.Ala189Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167812G>T	NCI-TCGA
MMP16	P51512	p.Ser190Thr	COSM1314252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167810A>T	NCI-TCGA Cosmic
MMP16	P51512	p.Gly191Ser	COSM4937432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167807C>T	NCI-TCGA Cosmic
MMP16	P51512	p.His193LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.88167764_88167800AATCCTCCCTCTCCATCAAAGGGAGAGCTGTCCCCAT>-	NCI-TCGA
MMP16	P51512	p.His193Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167800T>A	NCI-TCGA
MMP16	P51512	p.His193Asn	COSM6114146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167801G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Gly194Trp	COSM5244101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167798C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Ser196Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167791C>A	NCI-TCGA
MMP16	P51512	p.Pro198Arg	rs1340855815	missense variant	-	NC_000008.11:g.88167785G>C	gnomAD
MMP16	P51512	p.Pro198His	COSM751497	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167785G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Phe199Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167781A>T	NCI-TCGA
MMP16	P51512	p.Gly201Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.88167777C>A	NCI-TCGA
MMP16	P51512	p.Gly201Glu	COSM3784174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167776C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Phe211Leu	COSM422044	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167747A>G	NCI-TCGA Cosmic
MMP16	P51512	p.Pro212Thr	COSM751498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167744G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Gly215Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88167735C>T	NCI-TCGA
MMP16	P51512	p.Gly217Arg	COSM5289854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167729C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Gly218Glu	COSM5900127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88167725C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Ser224Ala	rs778568795	missense variant	-	NC_000008.11:g.88167708A>C	ExAC,gnomAD
MMP16	P51512	p.Ser224Ter	COSM751499	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.88167707G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Asn234Asp	rs756760859	missense variant	-	NC_000008.11:g.88167678T>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Asn234Ser	rs753339844	missense variant	-	NC_000008.11:g.88167677T>C	ExAC,gnomAD
MMP16	P51512	p.Gly237Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88118861C>A	NCI-TCGA
MMP16	P51512	p.Asp239Tyr	COSM4780564	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88118856C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Phe241Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88118849A>C	NCI-TCGA
MMP16	P51512	p.Val245Gly	COSM3901935	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88118837A>C	NCI-TCGA Cosmic
MMP16	P51512	p.His246Leu	COSM6114148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88118834T>A	NCI-TCGA Cosmic
MMP16	P51512	p.Ala251Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88118819G>T	NCI-TCGA
MMP16	P51512	p.Gly253Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88118814C>T	NCI-TCGA
MMP16	P51512	p.Gly253Ter	COSM6181825	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.88118814C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Leu254Val	COSM1102285	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88118811A>C	NCI-TCGA Cosmic
MMP16	P51512	p.Asn258Ser	rs752632247	missense variant	-	NC_000008.11:g.88118798T>C	ExAC,gnomAD
MMP16	P51512	p.Pro260His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88118792G>T	NCI-TCGA
MMP16	P51512	p.Pro260Leu	rs368855347	missense variant	-	NC_000008.11:g.88118792G>A	ESP,TOPMed
MMP16	P51512	p.Thr261Ile	rs1202242072	missense variant	-	NC_000008.11:g.88118789G>A	gnomAD
MMP16	P51512	p.Tyr268His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88118769A>G	NCI-TCGA
MMP16	P51512	p.Tyr268Ter	COSM751500	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.88118767G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Gln269Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88118765T>A	NCI-TCGA
MMP16	P51512	p.Gln269Ter	rs1313095939	stop gained	-	NC_000008.11:g.88118766G>A	gnomAD
MMP16	P51512	p.Tyr270His	rs751446440	missense variant	-	NC_000008.11:g.88118763A>G	ExAC,gnomAD
MMP16	P51512	p.Asn275Lys	rs763022004	missense variant	-	NC_000008.11:g.88118746G>T	ExAC,gnomAD
MMP16	P51512	p.Lys277Arg	rs533581617	missense variant	-	NC_000008.11:g.88118741T>C	1000Genomes,ExAC,gnomAD
MMP16	P51512	p.Asn280Asp	rs1323825291	missense variant	-	NC_000008.11:g.88118733T>C	gnomAD
MMP16	P51512	p.Gln284Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88118720T>C	NCI-TCGA
MMP16	P51512	p.Gln284His	COSM1314251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88118719C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Gln287Pro	COSM282831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88118711T>G	NCI-TCGA Cosmic
MMP16	P51512	p.Ile289TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.88118707C>-	NCI-TCGA
MMP16	P51512	p.Ile289Thr	rs1423536830	missense variant	-	NC_000008.11:g.88118705A>G	gnomAD
MMP16	P51512	p.Gly291Asp	rs1198485742	missense variant	-	NC_000008.11:g.88116718C>T	gnomAD
MMP16	P51512	p.Pro292Ala	rs1479316318	missense variant	-	NC_000008.11:g.88116716G>C	gnomAD
MMP16	P51512	p.Pro293His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116712G>T	NCI-TCGA
MMP16	P51512	p.Pro293Ser	rs1356801641	missense variant	-	NC_000008.11:g.88116713G>A	TOPMed
MMP16	P51512	p.Lys295Asn	rs1272441346	missense variant	-	NC_000008.11:g.88116705C>G	TOPMed
MMP16	P51512	p.Ile296Ser	rs374569912	missense variant	-	NC_000008.11:g.88116703A>C	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Ile296Val	rs1238848286	missense variant	-	NC_000008.11:g.88116704T>C	gnomAD
MMP16	P51512	p.Pro298Leu	rs1260152786	missense variant	-	NC_000008.11:g.88116697G>A	gnomAD
MMP16	P51512	p.Pro298Gln	COSM6114149	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88116697G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Thr300Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116691G>T	NCI-TCGA
MMP16	P51512	p.Thr300Ala	rs1213733085	missense variant	-	NC_000008.11:g.88116692T>C	gnomAD
MMP16	P51512	p.Pro302Thr	rs953954213	missense variant	-	NC_000008.11:g.88116686G>T	TOPMed
MMP16	P51512	p.Pro304Arg	rs772275333	missense variant	-	NC_000008.11:g.88116679G>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Pro304Leu	rs772275333	missense variant	-	NC_000008.11:g.88116679G>A	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Val306Leu	rs1321801587	missense variant	-	NC_000008.11:g.88116674C>A	gnomAD
MMP16	P51512	p.Pro307Leu	rs1360663314	missense variant	-	NC_000008.11:g.88116670G>A	gnomAD
MMP16	P51512	p.Pro307Thr	rs769615331	missense variant	-	NC_000008.11:g.88116671G>T	ExAC,gnomAD
MMP16	P51512	p.Pro308Ser	rs1476208193	missense variant	-	NC_000008.11:g.88116668G>A	TOPMed
MMP16	P51512	p.Pro308Leu	rs912451959	missense variant	-	NC_000008.11:g.88116667G>A	gnomAD
MMP16	P51512	p.Arg310His	rs139170994	missense variant	-	NC_000008.11:g.88116661C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg310Cys	rs202054317	missense variant	-	NC_000008.11:g.88116662G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Ser311Cys	rs1425435073	missense variant	-	NC_000008.11:g.88116658G>C	gnomAD
MMP16	P51512	p.Ser311Ala	rs754551431	missense variant	-	NC_000008.11:g.88116659A>C	ExAC,gnomAD
MMP16	P51512	p.Ile312Phe	rs780076056	missense variant	-	NC_000008.11:g.88116656T>A	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Ile312Val	rs780076056	missense variant	-	NC_000008.11:g.88116656T>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Pro313His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116652G>T	NCI-TCGA
MMP16	P51512	p.Pro313Ser	rs1429410357	missense variant	-	NC_000008.11:g.88116653G>A	gnomAD
MMP16	P51512	p.Pro314Ser	rs758102140	missense variant	-	NC_000008.11:g.88116650G>A	ExAC,gnomAD
MMP16	P51512	p.Ala315Ser	rs956723755	missense variant	-	NC_000008.11:g.88116647C>A	gnomAD
MMP16	P51512	p.Asp316Tyr	COSM6114150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88116644C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Pro317Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116640G>T	NCI-TCGA
MMP16	P51512	p.Pro317Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116641G>A	NCI-TCGA
MMP16	P51512	p.Arg318Gly	rs778990548	missense variant	-	NC_000008.11:g.88116638T>C	ExAC,gnomAD
MMP16	P51512	p.Arg318Lys	rs757543386	missense variant	-	NC_000008.11:g.88116637C>T	ExAC,gnomAD
MMP16	P51512	p.Lys319Glu	rs373778123	missense variant	-	NC_000008.11:g.88116635T>C	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Lys319Arg	rs1021800917	missense variant	-	NC_000008.11:g.88116634T>C	TOPMed,gnomAD
MMP16	P51512	p.Asn320LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.88116630_88116631insT	NCI-TCGA
MMP16	P51512	p.Asn320Lys	COSM3432599	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88116630A>C	NCI-TCGA Cosmic
MMP16	P51512	p.Pro323Ala	rs753104583	missense variant	-	NC_000008.11:g.88116623G>C	ExAC,gnomAD
MMP16	P51512	p.Pro326Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116613G>C	NCI-TCGA
MMP16	P51512	p.Pro326Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116614G>T	NCI-TCGA
MMP16	P51512	p.Arg327Trp	rs768109261	missense variant	-	NC_000008.11:g.88116611G>A	ExAC,gnomAD
MMP16	P51512	p.Arg327Gln	rs146269135	missense variant	-	NC_000008.11:g.88116610C>T	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Pro328Leu	rs1415053023	missense variant	-	NC_000008.11:g.88116607G>A	TOPMed
MMP16	P51512	p.Pro329Leu	COSM3901934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88116604G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Thr330Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116601G>T	NCI-TCGA
MMP16	P51512	p.Thr330Ala	COSM751504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88116602T>C	NCI-TCGA Cosmic
MMP16	P51512	p.Gly331AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.88116598C>-	NCI-TCGA
MMP16	P51512	p.Gly331Ser	rs774833875	missense variant	-	NC_000008.11:g.88116599C>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg332Lys	rs575319329	missense variant	-	NC_000008.11:g.88116595C>T	1000Genomes,ExAC,gnomAD
MMP16	P51512	p.Pro333Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116593G>T	NCI-TCGA
MMP16	P51512	p.Tyr335Cys	rs1372758090	missense variant	-	NC_000008.11:g.88116586T>C	gnomAD
MMP16	P51512	p.Pro336Ala	COSM1102284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88116584G>C	NCI-TCGA Cosmic
MMP16	P51512	p.Gly337Arg	rs141858403	missense variant	-	NC_000008.11:g.88116581C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Lys339Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116573T>G	NCI-TCGA
MMP16	P51512	p.Lys339Arg	rs1385879938	missense variant	-	NC_000008.11:g.88116574T>C	TOPMed,gnomAD
MMP16	P51512	p.Ile342Val	rs768243822	missense variant	-	NC_000008.11:g.88116566T>C	ExAC,gnomAD
MMP16	P51512	p.Asn346Tyr	rs1240555571	missense variant	-	NC_000008.11:g.88116554T>A	gnomAD
MMP16	P51512	p.Asn346Lys	rs746573501	missense variant	-	NC_000008.11:g.88116552G>C	ExAC,gnomAD
MMP16	P51512	p.Asn348Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116546G>C	NCI-TCGA
MMP16	P51512	p.Asn348Ser	rs1249283490	missense variant	-	NC_000008.11:g.88116547T>C	gnomAD
MMP16	P51512	p.Thr349Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116544G>T	NCI-TCGA
MMP16	P51512	p.Leu350Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116541A>G	NCI-TCGA
MMP16	P51512	p.Ala351Gly	rs1223241665	missense variant	-	NC_000008.11:g.88116538G>C	gnomAD
MMP16	P51512	p.Leu353Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116533G>T	NCI-TCGA
MMP16	P51512	p.Leu353Arg	COSM1257828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88116532A>C	NCI-TCGA Cosmic
MMP16	P51512	p.Arg354His	rs138174209	missense variant	-	NC_000008.11:g.88116529C>T	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg354Cys	COSM3901932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88116530G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Arg355Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116527G>A	NCI-TCGA
MMP16	P51512	p.Arg355His	rs1013166264	missense variant	-	NC_000008.11:g.88116526C>T	TOPMed,gnomAD
MMP16	P51512	p.Glu356Asp	rs772106112	missense variant	-	NC_000008.11:g.88116522C>A	ExAC,gnomAD
MMP16	P51512	p.Met357Val	rs1379083642	missense variant	-	NC_000008.11:g.88116521T>C	gnomAD
MMP16	P51512	p.Met357Thr	COSM751506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88116520A>G	NCI-TCGA Cosmic
MMP16	P51512	p.Val359Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88116515C>G	NCI-TCGA
MMP16	P51512	p.Asp362Asn	rs770672148	missense variant	-	NC_000008.11:g.88074743C>T	ExAC,gnomAD
MMP16	P51512	p.Gln363Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.88074740G>A	NCI-TCGA
MMP16	P51512	p.Gln363His	COSM751507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074738C>G	NCI-TCGA Cosmic
MMP16	P51512	p.Phe365Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074734A>T	NCI-TCGA
MMP16	P51512	p.Arg367Ter	COSM1458529	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.88074728G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Arg367Gln	COSM3651619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074727C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Arg369Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074721C>T	NCI-TCGA
MMP16	P51512	p.Arg369Gly	rs1488990440	missense variant	-	NC_000008.11:g.88074722T>C	gnomAD
MMP16	P51512	p.Arg369Thr	COSM98229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074721C>G	NCI-TCGA Cosmic
MMP16	P51512	p.Asn370Ser	rs777949111	missense variant	-	NC_000008.11:g.88074718T>C	ExAC,gnomAD
MMP16	P51512	p.Asn370Lys	rs756412512	missense variant	-	NC_000008.11:g.88074717G>T	ExAC,gnomAD
MMP16	P51512	p.Asn370Ile	COSM1215267	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074718T>A	NCI-TCGA Cosmic
MMP16	P51512	p.Asn370Asp	COSM3901931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074719T>C	NCI-TCGA Cosmic
MMP16	P51512	p.Asn371Ser	rs1257667053	missense variant	-	NC_000008.11:g.88074715T>C	gnomAD
MMP16	P51512	p.Arg372Gly	rs781263778	missense variant	-	NC_000008.11:g.88074713T>C	ExAC,gnomAD
MMP16	P51512	p.Val373Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074710C>A	NCI-TCGA
MMP16	P51512	p.Met374Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074705C>A	NCI-TCGA
MMP16	P51512	p.Asp375Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074704C>T	NCI-TCGA
MMP16	P51512	p.Asp375Tyr	COSM5769206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074704C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Asp375Gly	rs1240326844	missense variant	-	NC_000008.11:g.88074703T>C	TOPMed
MMP16	P51512	p.Gly376Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074700C>A	NCI-TCGA
MMP16	P51512	p.Gly376Ter	rs1403264969	stop gained	-	NC_000008.11:g.88074701C>A	gnomAD
MMP16	P51512	p.Gly376Arg	COSM6181828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074701C>G	NCI-TCGA Cosmic
MMP16	P51512	p.Tyr377His	rs1260538571	missense variant	-	NC_000008.11:g.88074698A>G	TOPMed
MMP16	P51512	p.Pro378Ser	COSM606548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074695G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Met379Leu	rs142006673	missense variant	-	NC_000008.11:g.88074692T>A	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Met379Val	rs142006673	missense variant	-	NC_000008.11:g.88074692T>C	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Phe384SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.88074678G>-	NCI-TCGA
MMP16	P51512	p.Phe384Leu	rs750879897	missense variant	-	NC_000008.11:g.88074677A>G	ExAC,gnomAD
MMP16	P51512	p.Trp385Cys	COSM6181829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074672C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Arg386Gly	rs760308984	missense variant	-	NC_000008.11:g.88074671G>C	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg386Gln	rs368200792	missense variant	-	NC_000008.11:g.88074670C>T	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg386Trp	rs760308984	missense variant	-	NC_000008.11:g.88074671G>A	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Gly387Ala	rs767006842	missense variant	-	NC_000008.11:g.88074667C>G	ExAC
MMP16	P51512	p.Gly387Ser	rs1419628498	missense variant	-	NC_000008.11:g.88074668C>T	TOPMed
MMP16	P51512	p.Pro389Ala	rs758996990	missense variant	-	NC_000008.11:g.88074662G>C	ExAC,gnomAD
MMP16	P51512	p.Pro390Ser	rs774237231	missense variant	-	NC_000008.11:g.88074659G>A	ExAC,gnomAD
MMP16	P51512	p.Ser391Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074656T>C	NCI-TCGA
MMP16	P51512	p.Ser391Asn	rs1057492560	missense variant	-	NC_000008.11:g.88074655C>T	gnomAD
MMP16	P51512	p.Asp393Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074650C>A	NCI-TCGA
MMP16	P51512	p.Glu397Lys	COSM4522943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074638C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Ser399Asn	rs769479277	missense variant	-	NC_000008.11:g.88074631C>T	ExAC
MMP16	P51512	p.Ser399Gly	rs61753768	missense variant	-	NC_000008.11:g.88074632T>C	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Ser399Arg	COSM245727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074630G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Asp400Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074627G>T	NCI-TCGA
MMP16	P51512	p.Asp400Asn	rs866043551	missense variant	-	NC_000008.11:g.88074629C>T	TOPMed,gnomAD
MMP16	P51512	p.Gly401Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074626C>A	NCI-TCGA
MMP16	P51512	p.Gly401Glu	rs1341796628	missense variant	-	NC_000008.11:g.88074625C>T	gnomAD
MMP16	P51512	p.Gly401Arg	rs755055835	missense variant	-	NC_000008.11:g.88074626C>T	ExAC,gnomAD
MMP16	P51512	p.Phe405Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074612G>T	NCI-TCGA
MMP16	P51512	p.Phe406Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88074610A>C	NCI-TCGA
MMP16	P51512	p.Phe406Leu	COSM6181830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074611A>G	NCI-TCGA Cosmic
MMP16	P51512	p.Lys407Gln	COSM6181831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074608T>G	NCI-TCGA Cosmic
MMP16	P51512	p.Gly408Arg	COSM6114154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88074605C>G	NCI-TCGA Cosmic
MMP16	P51512	p.Asn409Ser	rs182225592	missense variant	-	NC_000008.11:g.88056275T>C	1000Genomes,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Asn409Lys	rs1264212325	missense variant	-	NC_000008.11:g.88056274G>C	gnomAD
MMP16	P51512	p.Trp412Arg	COSM4932885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88056267A>G	NCI-TCGA Cosmic
MMP16	P51512	p.Val413Leu	rs771047374	missense variant	-	NC_000008.11:g.88056264C>G	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Val413Met	rs771047374	missense variant	-	NC_000008.11:g.88056264C>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Val413Ala	rs749698962	missense variant	-	NC_000008.11:g.88056263A>G	ExAC,gnomAD
MMP16	P51512	p.Lys415Thr	rs968265107	missense variant	-	NC_000008.11:g.88056257T>G	TOPMed
MMP16	P51512	p.Thr417Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88056251G>T	NCI-TCGA
MMP16	P51512	p.Thr418Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88056248G>A	NCI-TCGA
MMP16	P51512	p.Thr418Ala	rs770102092	missense variant	-	NC_000008.11:g.88056249T>C	ExAC,gnomAD
MMP16	P51512	p.Leu419Pro	rs748562931	missense variant	-	NC_000008.11:g.88056245A>G	ExAC,gnomAD
MMP16	P51512	p.Gln420Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.88056243G>A	NCI-TCGA
MMP16	P51512	p.Gln420Pro	COSM3925687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88056242T>G	NCI-TCGA Cosmic
MMP16	P51512	p.Tyr423Cys	rs1468010039	missense variant	-	NC_000008.11:g.88056233T>C	gnomAD
MMP16	P51512	p.Pro424Leu	rs1172747089	missense variant	-	NC_000008.11:g.88056230G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Pro424Leu	rs1172747089	missense variant	-	NC_000008.11:g.88056230G>A	gnomAD
MMP16	P51512	p.Ile428Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88056218A>T	NCI-TCGA
MMP16	P51512	p.Ile428Leu	rs1418804853	missense variant	-	NC_000008.11:g.88056219T>A	TOPMed,gnomAD
MMP16	P51512	p.Thr429Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88056215G>C	NCI-TCGA
MMP16	P51512	p.Leu430Val	rs1186747588	missense variant	-	NC_000008.11:g.88056213G>C	gnomAD
MMP16	P51512	p.Gly431Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88056210C>G	NCI-TCGA
MMP16	P51512	p.Ser432Gly	rs1459050274	missense variant	-	NC_000008.11:g.88056207T>C	TOPMed
MMP16	P51512	p.Ser432Gly	rs1459050274	missense variant	-	NC_000008.11:g.88056207T>C	NCI-TCGA Cosmic
MMP16	P51512	p.Gly433Arg	rs371382592	missense variant	-	NC_000008.11:g.88056204C>T	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Ile434Thr	rs149191104	missense variant	-	NC_000008.11:g.88056200A>G	ESP,TOPMed,gnomAD
MMP16	P51512	p.Ile434Val	rs1389984090	missense variant	-	NC_000008.11:g.88056201T>C	TOPMed
MMP16	P51512	p.Pro435Ser	COSM3651617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88056198G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Pro436LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.88056194G>-	NCI-TCGA
MMP16	P51512	p.Pro436Leu	rs1482457377	missense variant	-	NC_000008.11:g.88056194G>A	gnomAD
MMP16	P51512	p.Gly438Cys	COSM751508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88056189C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Trp445Ter	COSM461398	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.88056167C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Asp447Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88056162C>A	NCI-TCGA
MMP16	P51512	p.Val448Ile	rs1306557973	missense variant	-	NC_000008.11:g.88056159C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Val448Ile	rs1306557973	missense variant	-	NC_000008.11:g.88056159C>T	gnomAD
MMP16	P51512	p.Val448Phe	COSM6181832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88056159C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Gly449Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88056155C>A	NCI-TCGA
MMP16	P51512	p.Gly449Arg	rs1247506929	missense variant	-	NC_000008.11:g.88056156C>T	gnomAD
MMP16	P51512	p.Thr451ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.88056154C>-	NCI-TCGA
MMP16	P51512	p.Phe453Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88056142G>T	NCI-TCGA
MMP16	P51512	p.Arg458Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88056129T>C	NCI-TCGA
MMP16	P51512	p.Arg458Ile	rs1314246709	missense variant	-	NC_000008.11:g.88056128C>A	NCI-TCGA
MMP16	P51512	p.Arg458Ile	rs1314246709	missense variant	-	NC_000008.11:g.88056128C>A	gnomAD
MMP16	P51512	p.Glu465Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88046763T>G	NCI-TCGA
MMP16	P51512	p.Met466Ile	rs1323199288	missense variant	-	NC_000008.11:g.88046760C>A	TOPMed
MMP16	P51512	p.Met466Ile	COSM3651616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88046760C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Met469Val	rs997950104	missense variant	-	NC_000008.11:g.88046753T>C	gnomAD
MMP16	P51512	p.Met469Ile	rs1345397592	missense variant	-	NC_000008.11:g.88046751C>T	gnomAD
MMP16	P51512	p.Pro471Leu	rs1276415745	missense variant	-	NC_000008.11:g.88046746G>A	TOPMed,gnomAD
MMP16	P51512	p.Pro471Arg	rs1276415745	missense variant	-	NC_000008.11:g.88046746G>C	TOPMed,gnomAD
MMP16	P51512	p.Thr478Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88046726T>G	NCI-TCGA
MMP16	P51512	p.Trp480Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88046718C>A	NCI-TCGA
MMP16	P51512	p.Gly482Glu	COSM1472210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88046713C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Ile483Val	rs1272034361	missense variant	-	NC_000008.11:g.88046711T>C	TOPMed
MMP16	P51512	p.Glu485Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88046704T>C	NCI-TCGA
MMP16	P51512	p.His493Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88046680T>C	NCI-TCGA
MMP16	P51512	p.His493Tyr	rs1323032130	missense variant	-	NC_000008.11:g.88046681G>A	TOPMed,gnomAD
MMP16	P51512	p.His493Pro	COSM3901928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88046680T>G	NCI-TCGA Cosmic
MMP16	P51512	p.Lys494Asn	COSM3901927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88046676T>A	NCI-TCGA Cosmic
MMP16	P51512	p.Asn496Ser	rs762250691	missense variant	-	NC_000008.11:g.88046671T>C	ExAC,gnomAD
MMP16	P51512	p.Gly497Ser	COSM3651614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88046669C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Thr499Met	rs760938151	missense variant	-	NC_000008.11:g.88041789G>A	NCI-TCGA,NCI-TCGA Cosmic
MMP16	P51512	p.Thr499Met	rs760938151	missense variant	-	NC_000008.11:g.88041789G>A	ExAC,gnomAD
MMP16	P51512	p.Tyr502Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041780T>G	NCI-TCGA
MMP16	P51512	p.Gly504Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041775C>T	NCI-TCGA
MMP16	P51512	p.Gly504Ala	COSM3651613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041774C>G	NCI-TCGA Cosmic
MMP16	P51512	p.Asn512His	COSM3901926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041751T>G	NCI-TCGA Cosmic
MMP16	P51512	p.Gln513Arg	rs1244860626	missense variant	-	NC_000008.11:g.88041747T>C	gnomAD
MMP16	P51512	p.Ile514Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041744A>T	NCI-TCGA
MMP16	P51512	p.Ile514Val	rs762633102	missense variant	-	NC_000008.11:g.88041745T>C	ExAC,gnomAD
MMP16	P51512	p.Lys516Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041737C>G	NCI-TCGA
MMP16	P51512	p.Val517Ala	rs921880030	missense variant	-	NC_000008.11:g.88041735A>G	TOPMed,gnomAD
MMP16	P51512	p.Val517Ile	rs1441585389	missense variant	-	NC_000008.11:g.88041736C>T	gnomAD
MMP16	P51512	p.Glu518Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041732T>C	NCI-TCGA
MMP16	P51512	p.Glu518Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.88041733C>A	NCI-TCGA
MMP16	P51512	p.Pro519Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041730G>T	NCI-TCGA
MMP16	P51512	p.Pro519Leu	rs1490374655	missense variant	-	NC_000008.11:g.88041729G>A	TOPMed
MMP16	P51512	p.Pro519Ser	rs1198881072	missense variant	-	NC_000008.11:g.88041730G>A	gnomAD
MMP16	P51512	p.Ser524Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041715A>G	NCI-TCGA
MMP16	P51512	p.Ile525Val	rs1252028530	missense variant	-	NC_000008.11:g.88041712T>C	gnomAD
MMP16	P51512	p.Leu526Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041709G>T	NCI-TCGA
MMP16	P51512	p.Phe529Leu	COSM751509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041698A>C	NCI-TCGA Cosmic
MMP16	P51512	p.Met530Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041695C>A	NCI-TCGA
MMP16	P51512	p.Met530Ile	COSM2790060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041695C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Gly531Cys	COSM6114155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041694C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Asp533Glu	COSM3651612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041686A>C	NCI-TCGA Cosmic
MMP16	P51512	p.Gly534Glu	rs747698919	missense variant	-	NC_000008.11:g.88041684C>T	ExAC,gnomAD
MMP16	P51512	p.Gly534Glu	rs747698919	missense variant	-	NC_000008.11:g.88041684C>T	NCI-TCGA
MMP16	P51512	p.Thr536Ile	rs542654507	missense variant	-	NC_000008.11:g.88041678G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Asp537Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041676C>A	NCI-TCGA
MMP16	P51512	p.Arg538Gly	rs1453861930	missense variant	-	NC_000008.11:g.88041673T>C	gnomAD
MMP16	P51512	p.Lys540ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.88041666_88041667insG	NCI-TCGA
MMP16	P51512	p.Lys540Arg	rs1331794828	missense variant	-	NC_000008.11:g.88041666T>C	gnomAD
MMP16	P51512	p.His543Tyr	rs1411371571	missense variant	-	NC_000008.11:g.88041658G>A	gnomAD
MMP16	P51512	p.Pro546Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041648G>C	NCI-TCGA
MMP16	P51512	p.Asp547Asn	COSM4391636	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041646C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Asp547Tyr	COSM1102279	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041646C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Asp548Asn	rs1167461551	missense variant	-	NC_000008.11:g.88041643C>T	gnomAD
MMP16	P51512	p.Lys554Asn	rs1387038010	missense variant	-	NC_000008.11:g.88041623T>G	gnomAD
MMP16	P51512	p.Ala559Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041610C>T	NCI-TCGA
MMP16	P51512	p.Ala559Asp	COSM6114157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041609G>T	NCI-TCGA Cosmic
MMP16	P51512	p.Ser560Asn	rs758151246	missense variant	-	NC_000008.11:g.88041606C>T	ExAC,gnomAD
MMP16	P51512	p.Thr561Pro	rs750607147	missense variant	-	NC_000008.11:g.88041604T>G	ExAC,gnomAD
MMP16	P51512	p.Val562Leu	rs200606225	missense variant	-	NC_000008.11:g.88041601C>A	1000Genomes,ExAC,gnomAD
MMP16	P51512	p.Val562Leu	rs200606225	missense variant	-	NC_000008.11:g.88041601C>A	NCI-TCGA,NCI-TCGA Cosmic
MMP16	P51512	p.Ala564Asp	rs1204560152	missense variant	-	NC_000008.11:g.88041594G>T	gnomAD
MMP16	P51512	p.Ile567Met	rs911606002	missense variant	-	NC_000008.11:g.88041584A>C	TOPMed
MMP16	P51512	p.Ile567Val	COSM71661	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041586T>C	NCI-TCGA Cosmic
MMP16	P51512	p.Val568Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041583C>T	NCI-TCGA
MMP16	P51512	p.Val568Phe	rs1340076048	missense variant	-	NC_000008.11:g.88041583C>A	gnomAD
MMP16	P51512	p.Ile569Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041580T>G	NCI-TCGA
MMP16	P51512	p.Pro570Leu	rs553868301	missense variant	-	NC_000008.11:g.88041576G>A	1000Genomes,ExAC,gnomAD
MMP16	P51512	p.Cys571Tyr	COSM1569519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041573C>T	NCI-TCGA Cosmic
MMP16	P51512	p.Ile572Val	rs764500669	missense variant	-	NC_000008.11:g.88041571T>C	ExAC
MMP16	P51512	p.Leu573Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041566C>A	NCI-TCGA
MMP16	P51512	p.Ala574Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041564G>T	NCI-TCGA
MMP16	P51512	p.Ala574Val	rs761175224	missense variant	-	NC_000008.11:g.88041564G>A	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Leu575Phe	rs1282852938	missense variant	-	NC_000008.11:g.88041560T>A	gnomAD
MMP16	P51512	p.Cys576Arg	COSM751510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041559A>G	NCI-TCGA Cosmic
MMP16	P51512	p.Leu578Phe	rs1367664047	missense variant	-	NC_000008.11:g.88041553G>A	TOPMed
MMP16	P51512	p.Tyr582Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041541A>T	NCI-TCGA
MMP16	P51512	p.Phe587Ile	rs772968248	missense variant	-	NC_000008.11:g.88041526A>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg589Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041519C>T	NCI-TCGA
MMP16	P51512	p.Arg589Gly	rs1306973545	missense variant	-	NC_000008.11:g.88041520T>C	TOPMed,gnomAD
MMP16	P51512	p.Arg589Thr	rs765029042	missense variant	-	NC_000008.11:g.88041519C>G	ExAC,gnomAD
MMP16	P51512	p.Arg589Met	COSM4790769	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041519C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Lys590Arg	rs141880029	missense variant	-	NC_000008.11:g.88041516T>C	ESP,ExAC,TOPMed,gnomAD
MMP16	P51512	p.Gly591Glu	rs577048107	missense variant	-	NC_000008.11:g.88041513C>T	1000Genomes,ExAC,gnomAD
MMP16	P51512	p.Gly591Ala	rs577048107	missense variant	-	NC_000008.11:g.88041513C>G	1000Genomes,ExAC,gnomAD
MMP16	P51512	p.Gly591Val	COSM6114158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.88041513C>A	NCI-TCGA Cosmic
MMP16	P51512	p.Thr592Pro	rs775321586	missense variant	-	NC_000008.11:g.88041511T>G	ExAC,gnomAD
MMP16	P51512	p.Pro593Ala	rs745716157	missense variant	-	NC_000008.11:g.88041508G>C	ExAC,gnomAD
MMP16	P51512	p.Arg594His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041504C>T	NCI-TCGA
MMP16	P51512	p.Arg594Ser	rs749473846	missense variant	-	NC_000008.11:g.88041505G>T	ExAC,gnomAD
MMP16	P51512	p.Arg594Cys	rs749473846	missense variant	-	NC_000008.11:g.88041505G>A	ExAC,gnomAD
MMP16	P51512	p.Arg594Cys	rs749473846	missense variant	-	NC_000008.11:g.88041505G>A	NCI-TCGA
MMP16	P51512	p.His595Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041500G>T	NCI-TCGA
MMP16	P51512	p.Ile596Leu	rs777849325	missense variant	-	NC_000008.11:g.88041499T>A	ExAC
MMP16	P51512	p.Arg601His	rs756165796	missense variant	-	NC_000008.11:g.88041483C>T	ExAC,TOPMed,gnomAD
MMP16	P51512	p.Arg601Cys	rs1271222004	missense variant	-	NC_000008.11:g.88041484G>A	NCI-TCGA Cosmic
MMP16	P51512	p.Arg601Cys	rs1271222004	missense variant	-	NC_000008.11:g.88041484G>A	TOPMed,gnomAD
MMP16	P51512	p.Met603Val	rs753205155	missense variant	-	NC_000008.11:g.88041478T>C	ExAC,gnomAD
MMP16	P51512	p.Glu605Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.88041471T>A	NCI-TCGA
MMP16	P51512	p.Glu605Asp	rs755370022	missense variant	-	NC_000008.11:g.88041470C>G	ExAC,gnomAD
MMP16	P51512	p.Glu605Ala	rs767948410	missense variant	-	NC_000008.11:g.88041471T>G	ExAC,gnomAD
MMP16	P51512	p.Ter608TrpGluUnkThrTerUnkUnk	NCI-TCGA novel	stop lost	-	NC_000008.11:g.88041461T>C	NCI-TCGA
EFNB2	P52799	p.Ala2Thr	rs775586386	missense variant	-	NC_000013.11:g.106534961C>T	ExAC,gnomAD
EFNB2	P52799	p.Val3Met	rs1164055421	missense variant	-	NC_000013.11:g.106534958C>T	gnomAD
EFNB2	P52799	p.Arg5Gly	rs376463336	missense variant	-	NC_000013.11:g.106534952T>C	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Asp6His	rs1292931544	missense variant	-	NC_000013.11:g.106534949C>G	TOPMed,gnomAD
EFNB2	P52799	p.Asp6Gly	rs1436549077	missense variant	-	NC_000013.11:g.106534948T>C	gnomAD
EFNB2	P52799	p.Asp6Asn	rs1292931544	missense variant	-	NC_000013.11:g.106534949C>T	TOPMed,gnomAD
EFNB2	P52799	p.Cys12Tyr	rs1390418389	missense variant	-	NC_000013.11:g.106534930C>T	gnomAD
EFNB2	P52799	p.Gly14Ser	rs1170803905	missense variant	-	NC_000013.11:g.106534925C>T	TOPMed,gnomAD
EFNB2	P52799	p.Val15Phe	rs770705334	missense variant	-	NC_000013.11:g.106534922C>A	ExAC
EFNB2	P52799	p.Met17Leu	rs1235515076	missense variant	-	NC_000013.11:g.106534916T>A	TOPMed
EFNB2	P52799	p.Arg21Ser	rs773088976	missense variant	-	NC_000013.11:g.106534902T>A	ExAC,gnomAD
EFNB2	P52799	p.Thr22Ser	rs1231204543	missense variant	-	NC_000013.11:g.106534900G>C	gnomAD
EFNB2	P52799	p.Thr22Ala	rs1489487155	missense variant	-	NC_000013.11:g.106534901T>C	gnomAD
EFNB2	P52799	p.Ala23Glu	rs200744113	missense variant	-	NC_000013.11:g.106534897G>T	1000Genomes,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ser27Ala	rs1345531848	missense variant	-	NC_000013.11:g.106534886A>C	gnomAD
EFNB2	P52799	p.Val29Ile	rs1427939091	missense variant	-	NC_000013.11:g.106534880C>T	TOPMed
EFNB2	P52799	p.Val29Ala	rs868855139	missense variant	-	NC_000013.11:g.106534879A>G	TOPMed
EFNB2	P52799	p.Leu30Ser	rs1300468991	missense variant	-	NC_000013.11:g.106534876A>G	gnomAD
EFNB2	P52799	p.Glu31Asp	rs746448012	missense variant	-	NC_000013.11:g.106534872C>A	ExAC,gnomAD
EFNB2	P52799	p.Pro32Ser	rs1357762883	missense variant	-	NC_000013.11:g.106534871G>A	TOPMed
EFNB2	P52799	p.Ile33Val	rs1295888661	missense variant	-	NC_000013.11:g.106534868T>C	gnomAD
EFNB2	P52799	p.Tyr34His	rs757666661	missense variant	-	NC_000013.11:g.106534865A>G	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Trp35Cys	rs1370782117	missense variant	-	NC_000013.11:g.106534860C>A	gnomAD
EFNB2	P52799	p.Ser37Thr	rs754224608	missense variant	-	NC_000013.11:g.106534856A>T	ExAC,gnomAD
EFNB2	P52799	p.Ser38Leu	rs1244472164	missense variant	-	NC_000013.11:g.106534852G>A	gnomAD
EFNB2	P52799	p.Leu43Val	rs182884414	missense variant	-	NC_000013.11:g.106512808G>C	1000Genomes,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Gln46Arg	rs778168173	missense variant	-	NC_000013.11:g.106512798T>C	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Val49Leu	rs755103788	missense variant	-	NC_000013.11:g.106512790C>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Val49Ile	rs755103788	missense variant	-	NC_000013.11:g.106512790C>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Pro63Leu	rs766335326	missense variant	-	NC_000013.11:g.106512747G>A	ExAC,gnomAD
EFNB2	P52799	p.Val70Ile	rs373751268	missense variant	-	NC_000013.11:g.106512727C>T	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Val70Leu	rs373751268	missense variant	-	NC_000013.11:g.106512727C>G	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Gln72Arg	rs1391487901	missense variant	-	NC_000013.11:g.106512720T>C	gnomAD
EFNB2	P52799	p.Asp84Asn	rs1369257861	missense variant	-	NC_000013.11:g.106512685C>T	gnomAD
EFNB2	P52799	p.Asp84Glu	rs776251962	missense variant	-	NC_000013.11:g.106512683G>C	ExAC,gnomAD
EFNB2	P52799	p.Arg88Ile	rs199874504	missense variant	-	NC_000013.11:g.106512672C>A	gnomAD
EFNB2	P52799	p.Thr90Ala	rs768377153	missense variant	-	NC_000013.11:g.106512667T>C	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Thr90Ser	rs201937680	missense variant	-	NC_000013.11:g.106512666G>C	gnomAD
EFNB2	P52799	p.Ile91Val	rs148660831	missense variant	-	NC_000013.11:g.106512664T>C	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Pro97His	rs1322194550	missense variant	-	NC_000013.11:g.106512645G>T	TOPMed
EFNB2	P52799	p.Cys101Tyr	rs369578553	missense variant	-	NC_000013.11:g.106512633C>T	ESP,TOPMed
EFNB2	P52799	p.Pro104Arg	rs1488781592	missense variant	-	NC_000013.11:g.106512624G>C	gnomAD
EFNB2	P52799	p.Asp107Val	rs1207542729	missense variant	-	NC_000013.11:g.106512615T>A	gnomAD
EFNB2	P52799	p.Ile108Thr	rs1355102999	missense variant	-	NC_000013.11:g.106512612A>G	gnomAD
EFNB2	P52799	p.Phe110Leu	rs1277123666	missense variant	-	NC_000013.11:g.106512605G>C	TOPMed
EFNB2	P52799	p.Leu121Ile	rs1305432874	missense variant	-	NC_000013.11:g.106512574G>T	gnomAD
EFNB2	P52799	p.Lys130Asn	rs543289075	missense variant	-	NC_000013.11:g.106512545T>G	gnomAD
EFNB2	P52799	p.Asp131Asn	rs778256043	missense variant	-	NC_000013.11:g.106512544C>T	ExAC,gnomAD
EFNB2	P52799	p.Ile134Val	rs1288872501	missense variant	-	NC_000013.11:g.106512535T>C	TOPMed,gnomAD
EFNB2	P52799	p.Ile135Thr	rs748532324	missense variant	-	NC_000013.11:g.106512531A>G	ExAC,gnomAD
EFNB2	P52799	p.Asn139Ser	rs753716311	missense variant	-	NC_000013.11:g.106495831T>C	ExAC,gnomAD
EFNB2	P52799	p.Leu142Val	rs1362205327	missense variant	-	NC_000013.11:g.106495823A>C	gnomAD
EFNB2	P52799	p.Glu149Lys	rs760433262	missense variant	-	NC_000013.11:g.106495802C>T	ExAC,gnomAD
EFNB2	P52799	p.Gln154His	rs1370177680	missense variant	-	NC_000013.11:g.106495785C>G	gnomAD
EFNB2	P52799	p.Thr155Arg	rs1308922625	missense variant	-	NC_000013.11:g.106495783G>C	gnomAD
EFNB2	P52799	p.Gln166His	rs1378141589	missense variant	-	NC_000013.11:g.106495749T>G	gnomAD
EFNB2	P52799	p.Ala168Val	rs765866206	missense variant	-	NC_000013.11:g.106494991G>A	ExAC,gnomAD
EFNB2	P52799	p.Ala168Glu	rs765866206	missense variant	-	NC_000013.11:g.106494991G>T	ExAC,gnomAD
EFNB2	P52799	p.Ser169Gly	rs762444187	missense variant	-	NC_000013.11:g.106494989T>C	ExAC
EFNB2	P52799	p.Ser169Arg	rs777021555	missense variant	-	NC_000013.11:g.106494987A>C	ExAC,gnomAD
EFNB2	P52799	p.Ala171Gly	rs1268793106	missense variant	-	NC_000013.11:g.106494982G>C	gnomAD
EFNB2	P52799	p.Arg175Thr	rs747367813	missense variant	-	NC_000013.11:g.106494970C>G	ExAC,gnomAD
EFNB2	P52799	p.Arg175Gly	rs1022032711	missense variant	-	NC_000013.11:g.106494971T>C	TOPMed,gnomAD
EFNB2	P52799	p.Asp178Gly	rs772473336	missense variant	-	NC_000013.11:g.106494961T>C	ExAC,gnomAD
EFNB2	P52799	p.Asp178Ala	rs772473336	missense variant	-	NC_000013.11:g.106494961T>G	ExAC,gnomAD
EFNB2	P52799	p.Pro179Ala	rs746057065	missense variant	-	NC_000013.11:g.106494959G>C	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Pro179Leu	rs766373079	missense variant	-	NC_000013.11:g.106494958G>A	ExAC,gnomAD
EFNB2	P52799	p.Thr180Ile	rs757424867	missense variant	-	NC_000013.11:g.106494955G>A	ExAC,gnomAD
EFNB2	P52799	p.Arg182Cys	rs749323234	missense variant	-	NC_000013.11:g.106494950G>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Arg182His	rs777601389	missense variant	-	NC_000013.11:g.106494949C>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ala187Gly	rs756029444	missense variant	-	NC_000013.11:g.106494934G>C	ExAC,gnomAD
EFNB2	P52799	p.Thr189Ile	rs1187085849	missense variant	-	NC_000013.11:g.106494928G>A	gnomAD
EFNB2	P52799	p.Asn190Asp	rs894985504	missense variant	-	NC_000013.11:g.106494926T>C	TOPMed
EFNB2	P52799	p.Ser193Cys	rs754687503	missense variant	-	NC_000013.11:g.106494917T>A	ExAC,gnomAD
EFNB2	P52799	p.Ser193Asn	rs751195816	missense variant	-	NC_000013.11:g.106494916C>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ser194Leu	rs1289393194	missense variant	-	NC_000013.11:g.106494913G>A	gnomAD
EFNB2	P52799	p.Ser194Ala	rs1320049265	missense variant	-	NC_000013.11:g.106494914A>C	gnomAD
EFNB2	P52799	p.Thr196Ile	rs762378017	missense variant	-	NC_000013.11:g.106494907G>A	ExAC
EFNB2	P52799	p.Pro198Thr	rs1316818279	missense variant	-	NC_000013.11:g.106494902G>T	gnomAD
EFNB2	P52799	p.Pro202Leu	rs1225906757	missense variant	-	NC_000013.11:g.106494889G>A	gnomAD
EFNB2	P52799	p.Asn203Asp	rs772741398	missense variant	-	NC_000013.11:g.106494887T>C	ExAC,gnomAD
EFNB2	P52799	p.Gly205Val	rs761153335	missense variant	-	NC_000013.11:g.106493428C>A	ExAC,gnomAD
EFNB2	P52799	p.Ser207Gly	rs753243306	missense variant	-	NC_000013.11:g.106493423T>C	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Gly210Asp	rs774806191	missense variant	-	NC_000013.11:g.106493413C>T	ExAC,gnomAD
EFNB2	P52799	p.Gly210Ser	rs368363140	missense variant	-	NC_000013.11:g.106493414C>T	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ser212Gly	rs1479080972	missense variant	-	NC_000013.11:g.106493408T>C	gnomAD
EFNB2	P52799	p.Ala213Thr	rs763200557	missense variant	-	NC_000013.11:g.106493405C>T	ExAC,gnomAD
EFNB2	P52799	p.Gly214Glu	rs1206370418	missense variant	-	NC_000013.11:g.106493401C>T	gnomAD
EFNB2	P52799	p.Gly214Arg	rs187616302	missense variant	-	NC_000013.11:g.106493402C>T	1000Genomes,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.His215Leu	rs1359543963	missense variant	-	NC_000013.11:g.106493398T>A	TOPMed
EFNB2	P52799	p.His215Tyr	rs374186548	missense variant	-	NC_000013.11:g.106493399G>A	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ser216Trp	rs372295978	missense variant	-	NC_000013.11:g.106493395G>C	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ser216Leu	rs372295978	missense variant	-	NC_000013.11:g.106493395G>A	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Asn218Ser	rs1346890653	missense variant	-	NC_000013.11:g.106493389T>C	gnomAD
EFNB2	P52799	p.Ile220Val	rs142444756	missense variant	-	NC_000013.11:g.106493384T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Gly222Ser	rs750087469	missense variant	-	NC_000013.11:g.106493378C>T	ExAC,gnomAD
EFNB2	P52799	p.Glu224Lys	rs1464916257	missense variant	-	NC_000013.11:g.106493372C>T	TOPMed,gnomAD
EFNB2	P52799	p.Ala232Val	rs569507869	missense variant	-	NC_000013.11:g.106493347G>A	1000Genomes,ExAC,gnomAD
EFNB2	P52799	p.Ser233Ter	rs1176044762	stop gained	-	NC_000013.11:g.106493344G>C	gnomAD
EFNB2	P52799	p.Cys235Ser	rs117593693	missense variant	-	NC_000013.11:g.106493339A>T	1000Genomes,ExAC,gnomAD
EFNB2	P52799	p.Ile236Val	rs1181576254	missense variant	-	NC_000013.11:g.106493336T>C	gnomAD
EFNB2	P52799	p.Ile237Val	rs1254330886	missense variant	-	NC_000013.11:g.106493333T>C	gnomAD
EFNB2	P52799	p.Val240Ile	rs766757594	missense variant	-	NC_000013.11:g.106493324C>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ile241Val	rs763140659	missense variant	-	NC_000013.11:g.106493321T>C	ExAC,gnomAD
EFNB2	P52799	p.Ile243Val	rs201989523	missense variant	-	NC_000013.11:g.106493315T>C	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Thr244Met	rs1325617911	missense variant	-	NC_000013.11:g.106493311G>A	TOPMed,gnomAD
EFNB2	P52799	p.Val246Ala	rs776646689	missense variant	-	NC_000013.11:g.106493305A>G	ExAC,gnomAD
EFNB2	P52799	p.Leu248Val	rs775214873	missense variant	-	NC_000013.11:g.106493300G>C	ExAC,gnomAD
EFNB2	P52799	p.Tyr252Cys	rs1303819517	missense variant	-	NC_000013.11:g.106493287T>C	gnomAD
EFNB2	P52799	p.Arg253Gly	rs745592223	missense variant	-	NC_000013.11:g.106493285G>C	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Arg253Gln	rs778657657	missense variant	-	NC_000013.11:g.106493284C>T	ExAC,gnomAD
EFNB2	P52799	p.Arg253Trp	rs745592223	missense variant	-	NC_000013.11:g.106493285G>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.His256Tyr	rs748856177	missense variant	-	NC_000013.11:g.106493276G>A	ExAC,gnomAD
EFNB2	P52799	p.Ser260Thr	rs755606363	missense variant	-	NC_000013.11:g.106493264A>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ser260Pro	rs755606363	missense variant	-	NC_000013.11:g.106493264A>G	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ser260Leu	rs752089244	missense variant	-	NC_000013.11:g.106493263G>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Thr264Met	rs765521052	missense variant	-	NC_000013.11:g.106493251G>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Thr265Asn	rs1464995228	missense variant	-	NC_000013.11:g.106493248G>T	gnomAD
EFNB2	P52799	p.Thr266Ala	rs1262087515	missense variant	-	NC_000013.11:g.106493246T>C	gnomAD
EFNB2	P52799	p.Thr266Met	rs190855238	missense variant	-	NC_000013.11:g.106493245G>A	1000Genomes,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Leu267Val	rs1313807581	missense variant	-	NC_000013.11:g.106493243G>C	TOPMed,gnomAD
EFNB2	P52799	p.Ser268Leu	rs954164031	missense variant	-	NC_000013.11:g.106493239G>A	gnomAD
EFNB2	P52799	p.Leu269Pro	rs771862640	missense variant	-	NC_000013.11:g.106493236A>G	ExAC,gnomAD
EFNB2	P52799	p.Ser270Asn	rs1435870127	missense variant	-	NC_000013.11:g.106493233C>T	gnomAD
EFNB2	P52799	p.Thr271Ala	rs1387180956	missense variant	-	NC_000013.11:g.106493231T>C	TOPMed,gnomAD
EFNB2	P52799	p.Thr271Pro	rs1387180956	missense variant	-	NC_000013.11:g.106493231T>G	TOPMed,gnomAD
EFNB2	P52799	p.Leu272Val	rs1481927436	missense variant	-	NC_000013.11:g.106493228G>C	TOPMed
EFNB2	P52799	p.Ala273Thr	rs1178422650	missense variant	-	NC_000013.11:g.106493225C>T	TOPMed
EFNB2	P52799	p.Arg277Cys	rs377711689	missense variant	-	NC_000013.11:g.106493213G>A	ESP,ExAC,gnomAD
EFNB2	P52799	p.Arg277Leu	rs374559924	missense variant	-	NC_000013.11:g.106493212C>A	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Arg277His	rs374559924	missense variant	-	NC_000013.11:g.106493212C>T	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Gly279Val	rs764803364	missense variant	-	NC_000013.11:g.106493206C>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Gly279Ser	rs1187894749	missense variant	-	NC_000013.11:g.106493207C>T	TOPMed,gnomAD
EFNB2	P52799	p.Gly279Asp	rs764803364	missense variant	-	NC_000013.11:g.106493206C>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Asn281Asp	rs1263156198	missense variant	-	NC_000013.11:g.106493201T>C	gnomAD
EFNB2	P52799	p.Gly283Asp	rs747541545	missense variant	-	NC_000013.11:g.106493194C>T	ExAC,gnomAD
EFNB2	P52799	p.Ser284Leu	rs370876035	missense variant	-	NC_000013.11:g.106493191G>A	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ser287Gly	rs757543125	missense variant	-	NC_000013.11:g.106493183T>C	ExAC,gnomAD
EFNB2	P52799	p.Asp288Asn	rs1229730192	missense variant	-	NC_000013.11:g.106493180C>T	gnomAD
EFNB2	P52799	p.Pro292Leu	rs1299202339	missense variant	-	NC_000013.11:g.106493167G>A	gnomAD
EFNB2	P52799	p.Ala296Ser	rs767538286	missense variant	-	NC_000013.11:g.106493156C>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ala296Val	rs1305239957	missense variant	-	NC_000013.11:g.106493155G>A	TOPMed,gnomAD
EFNB2	P52799	p.Asp297Asn	rs1368423495	missense variant	-	NC_000013.11:g.106493153C>T	gnomAD
EFNB2	P52799	p.Ser298Asn	rs1167748685	missense variant	-	NC_000013.11:g.106493149C>T	gnomAD
EFNB2	P52799	p.Val299Ile	rs770833245	missense variant	-	NC_000013.11:g.106493147C>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Cys301Tyr	rs1474059835	missense variant	-	NC_000013.11:g.106493140C>T	TOPMed
EFNB2	P52799	p.Glu305Asp	rs780547614	missense variant	-	NC_000013.11:g.106493127C>G	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Glu305Lys	rs535855285	missense variant	-	NC_000013.11:g.106493129C>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ser308Arg	rs141594061	missense variant	-	NC_000013.11:g.106493118G>T	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Gly309Arg	rs530509657	missense variant	-	NC_000013.11:g.106493117C>T	1000Genomes,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Gly312Arg	rs759930636	missense variant	-	NC_000013.11:g.106493108C>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.His313Gln	rs931101990	missense variant	-	NC_000013.11:g.106493103G>C	TOPMed,gnomAD
EFNB2	P52799	p.Pro314Leu	rs1271072181	missense variant	-	NC_000013.11:g.106493101G>A	TOPMed
EFNB2	P52799	p.Ile317Val	rs1307104888	missense variant	-	NC_000013.11:g.106493093T>C	gnomAD
EFNB2	P52799	p.Glu320Ter	rs767489766	stop gained	-	NC_000013.11:g.106493084C>A	ExAC
EFNB2	P52799	p.Pro322Ala	rs759571591	missense variant	-	NC_000013.11:g.106493078G>C	ExAC,gnomAD
EFNB2	P52799	p.Pro323Ser	rs766350222	missense variant	-	NC_000013.11:g.106493075G>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Pro323Thr	rs766350222	missense variant	-	NC_000013.11:g.106493075G>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Pro323Leu	rs183251835	missense variant	-	NC_000013.11:g.106493074G>A	1000Genomes,ExAC,gnomAD
EFNB2	P52799	p.Pro326Leu	rs761345466	missense variant	-	NC_000013.11:g.106493065G>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Pro326Arg	rs761345466	missense variant	-	NC_000013.11:g.106493065G>C	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Pro326Gln	rs761345466	missense variant	-	NC_000013.11:g.106493065G>T	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ala327Thr	rs1182962612	missense variant	-	NC_000013.11:g.106493063C>T	gnomAD
EFNB2	P52799	p.Ala327Gly	rs776275451	missense variant	-	NC_000013.11:g.106493062G>C	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Ala327Val	rs776275451	missense variant	-	NC_000013.11:g.106493062G>A	ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Asn328Asp	rs1409820027	missense variant	-	NC_000013.11:g.106493060T>C	TOPMed,gnomAD
EFNB2	P52799	p.Asn328Tyr	rs1409820027	missense variant	-	NC_000013.11:g.106493060T>A	TOPMed,gnomAD
EFNB2	P52799	p.Ile329Val	rs142390625	missense variant	-	NC_000013.11:g.106493057T>C	ESP,ExAC,TOPMed,gnomAD
EFNB2	P52799	p.Lys332Arg	rs1324905301	missense variant	-	NC_000013.11:g.106493047T>C	gnomAD
EFNA5	P52803	p.Leu2Ser	rs771131134	missense variant	-	NC_000005.10:g.107670609A>G	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Leu2Trp	rs771131134	missense variant	-	NC_000005.10:g.107670609A>C	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.His3Pro	rs531625106	missense variant	-	NC_000005.10:g.107670606T>G	1000Genomes,ExAC,gnomAD
EFNA5	P52803	p.His3Arg	rs531625106	missense variant	-	NC_000005.10:g.107670606T>C	1000Genomes,ExAC,gnomAD
EFNA5	P52803	p.Val4Glu	rs1316921021	missense variant	-	NC_000005.10:g.107670603A>T	gnomAD
EFNA5	P52803	p.Glu5Asp	COSM3428807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107670599C>A	NCI-TCGA Cosmic
EFNA5	P52803	p.Leu12Pro	rs1384699365	missense variant	-	NC_000005.10:g.107670579A>G	TOPMed
EFNA5	P52803	p.Val13Leu	rs1298672817	missense variant	-	NC_000005.10:g.107670577C>G	gnomAD
EFNA5	P52803	p.Val13Leu	rs1298672817	missense variant	-	NC_000005.10:g.107670577C>A	gnomAD
EFNA5	P52803	p.Leu14His	rs375348285	missense variant	-	NC_000005.10:g.107670573A>T	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Leu14Phe	rs754892007	missense variant	-	NC_000005.10:g.107670574G>A	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Leu14Pro	rs375348285	missense variant	-	NC_000005.10:g.107670573A>G	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Trp15Cys	rs750133350	missense variant	-	NC_000005.10:g.107670569C>G	ExAC,gnomAD
EFNA5	P52803	p.Trp15Arg	rs755615518	missense variant	-	NC_000005.10:g.107670571A>T	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Trp15Arg	rs755615518	missense variant	-	NC_000005.10:g.107670571A>G	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Met16Lys	rs1386658762	missense variant	-	NC_000005.10:g.107670567A>T	gnomAD
EFNA5	P52803	p.Cys17Arg	rs1165880531	missense variant	-	NC_000005.10:g.107670565A>G	gnomAD
EFNA5	P52803	p.Val18Gly	rs202114413	missense variant	-	NC_000005.10:g.107670561A>C	1000Genomes,ExAC,gnomAD
EFNA5	P52803	p.Ser20Gly	rs898892115	missense variant	-	NC_000005.10:g.107670556T>C	TOPMed,gnomAD
EFNA5	P52803	p.Pro23Leu	rs1221778708	missense variant	-	NC_000005.10:g.107670546G>A	gnomAD
EFNA5	P52803	p.Pro23Ser	rs756893997	missense variant	-	NC_000005.10:g.107670547G>A	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Ser25Cys	rs1294136606	missense variant	-	NC_000005.10:g.107670540G>C	gnomAD
EFNA5	P52803	p.Lys26Met	rs1237772343	missense variant	-	NC_000005.10:g.107670537T>A	TOPMed,gnomAD
EFNA5	P52803	p.Lys26Arg	rs1237772343	missense variant	-	NC_000005.10:g.107670537T>C	TOPMed,gnomAD
EFNA5	P52803	p.Lys26Asn	rs751892462	missense variant	-	NC_000005.10:g.107670536C>A	ExAC,gnomAD
EFNA5	P52803	p.Val28Leu	rs1225360851	missense variant	-	NC_000005.10:g.107670532C>G	gnomAD
EFNA5	P52803	p.Asp30Tyr	rs370590979	missense variant	-	NC_000005.10:g.107670526C>A	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Asp30Asn	rs370590979	missense variant	-	NC_000005.10:g.107670526C>T	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Ala33Ser	rs1369687459	missense variant	-	NC_000005.10:g.107670517C>A	TOPMed
EFNA5	P52803	p.Asn37Ser	COSM1059355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107670504T>C	NCI-TCGA Cosmic
EFNA5	P52803	p.Asn40Tyr	rs1418319152	missense variant	-	NC_000005.10:g.107670496T>A	gnomAD
EFNA5	P52803	p.Arg42Lys	rs1160522580	missense variant	-	NC_000005.10:g.107670489C>T	gnomAD
EFNA5	P52803	p.Phe43Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107427508A>T	NCI-TCGA
EFNA5	P52803	p.Gln44Lys	rs1419224113	missense variant	-	NC_000005.10:g.107427505G>T	gnomAD
EFNA5	P52803	p.Gly46Val	rs534814016	missense variant	-	NC_000005.10:g.107427498C>A	1000Genomes,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Gly46Asp	rs534814016	missense variant	-	NC_000005.10:g.107427498C>T	1000Genomes,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.His49Arg	rs778068750	missense variant	-	NC_000005.10:g.107427489T>C	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.His49Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107427490G>A	NCI-TCGA
EFNA5	P52803	p.Asp51Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107427484C>T	NCI-TCGA
EFNA5	P52803	p.Cys53ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.107427478_107427479insTTAGCTGG	NCI-TCGA
EFNA5	P52803	p.Asn55Ser	rs758824988	missense variant	-	NC_000005.10:g.107427471T>C	ExAC,gnomAD
EFNA5	P52803	p.Asp59Val	rs1262499843	missense variant	-	NC_000005.10:g.107427459T>A	gnomAD
EFNA5	P52803	p.Val60Ile	rs765848016	missense variant	-	NC_000005.10:g.107427457C>T	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.His64Tyr	rs201968475	missense variant	-	NC_000005.10:g.107427445G>A	1000Genomes,ExAC,gnomAD
EFNA5	P52803	p.Tyr65His	rs753881471	missense variant	-	NC_000005.10:g.107427442A>G	ExAC,gnomAD
EFNA5	P52803	p.Ser68Cys	rs766457284	missense variant	-	NC_000005.10:g.107427432G>C	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Ser68Phe	rs766457284	missense variant	-	NC_000005.10:g.107427432G>A	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Val69Ile	rs773478586	missense variant	-	NC_000005.10:g.107427430C>T	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Glu71Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.107427424C>A	NCI-TCGA
EFNA5	P52803	p.Asp72Val	rs768391866	missense variant	-	NC_000005.10:g.107427420T>A	ExAC,gnomAD
EFNA5	P52803	p.Lys73Glu	rs762750294	missense variant	-	NC_000005.10:g.107427418T>C	ExAC,gnomAD
EFNA5	P52803	p.Thr74Ala	rs775199182	missense variant	-	NC_000005.10:g.107427415T>C	ExAC,gnomAD
EFNA5	P52803	p.Arg76His	rs1408872308	missense variant	-	NC_000005.10:g.107427408C>T	TOPMed,gnomAD
EFNA5	P52803	p.Arg76Cys	rs550879331	missense variant	-	NC_000005.10:g.107427409G>A	ExAC,gnomAD
EFNA5	P52803	p.Val78Ile	rs1211054021	missense variant	-	NC_000005.10:g.107427403C>T	gnomAD
EFNA5	P52803	p.Tyr80Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107427396T>C	NCI-TCGA
EFNA5	P52803	p.Met81Val	rs1461491891	missense variant	-	NC_000005.10:g.107427394T>C	gnomAD
EFNA5	P52803	p.Val82Met	COSM4127007	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427391C>T	NCI-TCGA Cosmic
EFNA5	P52803	p.Asp85Gly	rs1373923050	missense variant	-	NC_000005.10:g.107427381T>C	gnomAD
EFNA5	P52803	p.Asp91Asn	rs780608946	missense variant	-	NC_000005.10:g.107427364C>T	ExAC,gnomAD
EFNA5	P52803	p.Thr93Ile	rs1313861624	missense variant	-	NC_000005.10:g.107427357G>A	TOPMed
EFNA5	P52803	p.Thr93Ser	COSM3409658	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427357G>C	NCI-TCGA Cosmic
EFNA5	P52803	p.Lys95Arg	rs371145939	missense variant	-	NC_000005.10:g.107427351T>C	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Gly96Trp	COSM4127006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427349C>A	NCI-TCGA Cosmic
EFNA5	P52803	p.Trp100Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107427335C>A	NCI-TCGA
EFNA5	P52803	p.Trp100Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107427336C>A	NCI-TCGA
EFNA5	P52803	p.Arg104Gly	rs377722066	missense variant	-	NC_000005.10:g.107427325G>C	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Arg104Trp	rs377722066	missense variant	-	NC_000005.10:g.107427325G>A	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Arg104Gln	rs1035548678	missense variant	-	NC_000005.10:g.107427324C>T	gnomAD
EFNA5	P52803	p.His106Arg	rs373469834	missense variant	-	NC_000005.10:g.107427318T>C	ESP,ExAC,gnomAD
EFNA5	P52803	p.Ser107Phe	COSM4127005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427315G>A	NCI-TCGA Cosmic
EFNA5	P52803	p.Pro108Leu	rs1385630940	missense variant	-	NC_000005.10:g.107427312G>A	gnomAD
EFNA5	P52803	p.Asn109Ser	rs199676207	missense variant	-	NC_000005.10:g.107427309T>C	1000Genomes,ExAC,gnomAD
EFNA5	P52803	p.Gly110Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107427307C>T	NCI-TCGA
EFNA5	P52803	p.Leu120Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107427277G>T	NCI-TCGA
EFNA5	P52803	p.Pro123Ala	rs760794041	missense variant	-	NC_000005.10:g.107427268G>C	ExAC,gnomAD
EFNA5	P52803	p.Pro123Ser	COSM3607463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107427268G>A	NCI-TCGA Cosmic
EFNA5	P52803	p.Ser125Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107427261G>A	NCI-TCGA
EFNA5	P52803	p.Arg134Gly	rs142282920	missense variant	-	NC_000005.10:g.107427235G>C	ESP,TOPMed
EFNA5	P52803	p.Arg134Gln	rs775314064	missense variant	-	NC_000005.10:g.107427234C>T	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Arg134Ter	COSM2150914	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.107427235G>A	NCI-TCGA Cosmic
EFNA5	P52803	p.Ser141Phe	rs1263853816	missense variant	-	NC_000005.10:g.107387768G>A	gnomAD
EFNA5	P52803	p.Ile143Thr	rs1395025924	missense variant	-	NC_000005.10:g.107387762A>G	TOPMed
EFNA5	P52803	p.Pro144Leu	rs771409651	missense variant	-	NC_000005.10:g.107387759G>A	gnomAD
EFNA5	P52803	p.Asp145Gly	rs1008739951	missense variant	-	NC_000005.10:g.107387756T>C	TOPMed
EFNA5	P52803	p.Asn146Asp	rs746331255	missense variant	-	NC_000005.10:g.107387754T>C	ExAC,gnomAD
EFNA5	P52803	p.Arg148Gly	rs1334662919	missense variant	-	NC_000005.10:g.107387748T>C	gnomAD
EFNA5	P52803	p.Arg149Lys	rs757317885	missense variant	-	NC_000005.10:g.107387744C>T	ExAC,gnomAD
EFNA5	P52803	p.Arg149Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107387744C>A	NCI-TCGA
EFNA5	P52803	p.Cys151Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107387739A>G	NCI-TCGA
EFNA5	P52803	p.Lys155Arg	rs764308705	missense variant	-	NC_000005.10:g.107387726T>C	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Val156Ile	rs1407649567	missense variant	-	NC_000005.10:g.107387724C>T	gnomAD
EFNA5	P52803	p.Pro160Leu	rs369853743	missense variant	-	NC_000005.10:g.107387711G>A	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Pro160GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.107387711G>-	NCI-TCGA
EFNA5	P52803	p.Thr161Ser	rs1242445455	missense variant	-	NC_000005.10:g.107387709T>A	TOPMed
EFNA5	P52803	p.Asn162Thr	rs554807948	missense variant	-	NC_000005.10:g.107387315T>G	1000Genomes
EFNA5	P52803	p.Asn162His	rs1250324748	missense variant	-	NC_000005.10:g.107387706T>G	TOPMed,gnomAD
EFNA5	P52803	p.Asn162Asp	rs1250324748	missense variant	-	NC_000005.10:g.107387706T>C	TOPMed,gnomAD
EFNA5	P52803	p.Ser163Asn	rs925330825	missense variant	-	NC_000005.10:g.107387312C>T	TOPMed
EFNA5	P52803	p.Cys164Tyr	rs1205251892	missense variant	-	NC_000005.10:g.107387309C>T	TOPMed,gnomAD
EFNA5	P52803	p.Cys164Ser	rs1205251892	missense variant	-	NC_000005.10:g.107387309C>G	TOPMed,gnomAD
EFNA5	P52803	p.Ile168Val	rs1289779671	missense variant	-	NC_000005.10:g.107387298T>C	TOPMed,gnomAD
EFNA5	P52803	p.Ile168Leu	rs1289779671	missense variant	-	NC_000005.10:g.107387298T>A	TOPMed,gnomAD
EFNA5	P52803	p.Asp172Tyr	COSM3776097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107387286C>A	NCI-TCGA Cosmic
EFNA5	P52803	p.Arg173Cys	rs1359871751	missense variant	-	NC_000005.10:g.107387283G>A	gnomAD
EFNA5	P52803	p.Arg173His	rs755846070	missense variant	-	NC_000005.10:g.107387282C>T	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Asp176Asn	rs945394967	missense variant	-	NC_000005.10:g.107387274C>T	TOPMed,gnomAD
EFNA5	P52803	p.Asn178Asp	rs767566280	missense variant	-	NC_000005.10:g.107387268T>C	ExAC,gnomAD
EFNA5	P52803	p.Asn178Ser	COSM3826518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107387267T>C	NCI-TCGA Cosmic
EFNA5	P52803	p.Asp179Asn	rs191210570	missense variant	-	NC_000005.10:g.107387265C>T	1000Genomes,ExAC,gnomAD
EFNA5	P52803	p.Val181Leu	rs1302129174	missense variant	-	NC_000005.10:g.107387259C>G	gnomAD
EFNA5	P52803	p.Glu182Ala	rs1366552663	missense variant	-	NC_000005.10:g.107387255T>G	gnomAD
EFNA5	P52803	p.Glu186Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107387243T>A	NCI-TCGA
EFNA5	P52803	p.Glu186Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107387244C>G	NCI-TCGA
EFNA5	P52803	p.Ala188Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107387237G>A	NCI-TCGA
EFNA5	P52803	p.Asp190Asn	rs1292992308	missense variant	-	NC_000005.10:g.107381374C>T	gnomAD
EFNA5	P52803	p.Thr191Asn	rs913570798	missense variant	-	NC_000005.10:g.107381370G>T	TOPMed,gnomAD
EFNA5	P52803	p.Val192Ile	rs199566187	missense variant	-	NC_000005.10:g.107381368C>T	1000Genomes,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.His193Pro	rs1437929277	missense variant	-	NC_000005.10:g.107381364T>G	TOPMed,gnomAD
EFNA5	P52803	p.His193Gln	rs1171980334	missense variant	-	NC_000005.10:g.107381363A>C	TOPMed
EFNA5	P52803	p.Glu194Gly	rs989378071	missense variant	-	NC_000005.10:g.107381361T>C	TOPMed
EFNA5	P52803	p.Ala196Val	rs761234031	missense variant	-	NC_000005.10:g.107381355G>A	ExAC,TOPMed
EFNA5	P52803	p.Glu197Lys	rs772569777	missense variant	-	NC_000005.10:g.107381353C>T	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Pro198Thr	rs748179054	missense variant	-	NC_000005.10:g.107381350G>T	ExAC,gnomAD
EFNA5	P52803	p.Arg200His	rs150981361	missense variant	-	NC_000005.10:g.107381343C>T	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Arg200Cys	rs774448128	missense variant	-	NC_000005.10:g.107381344G>A	ExAC,gnomAD
EFNA5	P52803	p.Gly201Ser	rs148423632	missense variant	-	NC_000005.10:g.107381341C>T	ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Glu202Lys	rs746761754	missense variant	-	NC_000005.10:g.107381338C>T	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Ala204Thr	rs758317600	missense variant	-	NC_000005.10:g.107381332C>T	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Ala204Ser	rs758317600	missense variant	-	NC_000005.10:g.107381332C>A	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Ala204Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107381331G>C	NCI-TCGA
EFNA5	P52803	p.Gln206His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107381324T>A	NCI-TCGA
EFNA5	P52803	p.Pro208Leu	rs1307667399	missense variant	-	NC_000005.10:g.107381319G>A	gnomAD
EFNA5	P52803	p.Pro208Ala	rs200334393	missense variant	-	NC_000005.10:g.107381320G>C	1000Genomes,ExAC,gnomAD
EFNA5	P52803	p.Pro208Ser	COSM3918430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107381320G>A	NCI-TCGA Cosmic
EFNA5	P52803	p.Ile210Thr	rs1230985810	missense variant	-	NC_000005.10:g.107381313A>G	gnomAD
EFNA5	P52803	p.Pro211Ser	rs994027099	missense variant	-	NC_000005.10:g.107381311G>A	TOPMed,gnomAD
EFNA5	P52803	p.Pro211Ala	rs994027099	missense variant	-	NC_000005.10:g.107381311G>C	TOPMed,gnomAD
EFNA5	P52803	p.Pro211His	rs1004258412	missense variant	-	NC_000005.10:g.107381310G>T	TOPMed,gnomAD
EFNA5	P52803	p.Pro211Thr	rs994027099	missense variant	-	NC_000005.10:g.107381311G>T	TOPMed,gnomAD
EFNA5	P52803	p.Ser212Arg	rs1396722950	missense variant	-	NC_000005.10:g.107381306G>T	TOPMed,gnomAD
EFNA5	P52803	p.Arg213Cys	rs754669041	missense variant	-	NC_000005.10:g.107381305G>A	ExAC,gnomAD
EFNA5	P52803	p.Arg213His	rs753480388	missense variant	-	NC_000005.10:g.107381304C>T	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Arg213Pro	rs753480388	missense variant	-	NC_000005.10:g.107381304C>G	ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Arg213Ser	rs754669041	missense variant	-	NC_000005.10:g.107381305G>T	ExAC,gnomAD
EFNA5	P52803	p.Leu215Ser	COSM1432035	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.107381298A>G	NCI-TCGA Cosmic
EFNA5	P52803	p.Ile217Val	rs1371404497	missense variant	-	NC_000005.10:g.107381293T>C	TOPMed
EFNA5	P52803	p.Leu218Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107381290G>T	NCI-TCGA
EFNA5	P52803	p.Leu221Ile	rs1170260907	missense variant	-	NC_000005.10:g.107381281G>T	gnomAD
EFNA5	P52803	p.Ala223Val	rs201008479	missense variant	-	NC_000005.10:g.107381274G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EFNA5	P52803	p.Leu226Ter	NCI-TCGA novel	frameshift	-	NC_000005.10:g.107381265A>-	NCI-TCGA
EFNA5	P52803	p.Leu226Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.107381264C>G	NCI-TCGA
EFNA5	P52803	p.Thr227Ile	rs767938203	missense variant	-	NC_000005.10:g.107381262G>A	ExAC,gnomAD
EFNA5	P52803	p.Leu228Ter	rs1194678457	stop gained	-	NC_000005.10:g.107381259A>C	gnomAD
NDST1	P52848	p.Pro2Ala	rs1053232280	missense variant	-	NC_000005.10:g.150521258C>G	TOPMed
NDST1	P52848	p.Arg8Gln	rs752084158	missense variant	-	NC_000005.10:g.150521277G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg8Trp	rs766038600	missense variant	-	NC_000005.10:g.150521276C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg9Lys	rs1480149742	missense variant	-	NC_000005.10:g.150521280G>A	gnomAD
NDST1	P52848	p.Arg9Ser	rs755612825	missense variant	-	NC_000005.10:g.150521281G>C	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg12Trp	rs753004555	missense variant	-	NC_000005.10:g.150521288C>T	ExAC,gnomAD
NDST1	P52848	p.Arg12Gln	rs534750288	missense variant	-	NC_000005.10:g.150521289G>A	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.His13Gln	rs777877507	missense variant	-	NC_000005.10:g.150521293C>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.His13Gln	RCV000678273	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150521293C>G	ClinVar
NDST1	P52848	p.His13Gln	RCV000519525	missense variant	-	NC_000005.10:g.150521293C>G	ClinVar
NDST1	P52848	p.Val14Met	rs377262041	missense variant	-	NC_000005.10:g.150521294G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val14Ala	rs1222119334	missense variant	-	NC_000005.10:g.150521295T>C	TOPMed
NDST1	P52848	p.Ser15Phe	rs935946245	missense variant	-	NC_000005.10:g.150521298C>T	gnomAD
NDST1	P52848	p.Ser15Cys	rs935946245	missense variant	-	NC_000005.10:g.150521298C>G	gnomAD
NDST1	P52848	p.Pro16Leu	rs199626839	missense variant	-	NC_000005.10:g.150521301C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro16Ser	COSM3612543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521300C>T	NCI-TCGA Cosmic
NDST1	P52848	p.Ile25Val	rs145198292	missense variant	-	NC_000005.10:g.150521327A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ile25Val	RCV000502179	missense variant	-	NC_000005.10:g.150521327A>G	ClinVar
NDST1	P52848	p.Ile25Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150521327A>T	NCI-TCGA
NDST1	P52848	p.Phe29Leu	rs747928567	missense variant	-	NC_000005.10:g.150521341C>A	ExAC,gnomAD
NDST1	P52848	p.Phe29Leu	rs747928567	missense variant	-	NC_000005.10:g.150521341C>G	ExAC,gnomAD
NDST1	P52848	p.Ser30Arg	rs1272512162	missense variant	-	NC_000005.10:g.150521342A>C	gnomAD
NDST1	P52848	p.Val31Ile	rs373412859	missense variant	-	NC_000005.10:g.150521345G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val31Phe	rs373412859	missense variant	-	NC_000005.10:g.150521345G>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ile33Val	rs982673060	missense variant	-	NC_000005.10:g.150521351A>G	TOPMed
NDST1	P52848	p.Ser34Leu	rs1264818846	missense variant	-	NC_000005.10:g.150521355C>T	gnomAD
NDST1	P52848	p.Ser34Trp	RCV000503683	missense variant	-	NC_000005.10:g.150521355C>G	ClinVar
NDST1	P52848	p.Ser34Trp	rs1264818846	missense variant	-	NC_000005.10:g.150521355C>G	gnomAD
NDST1	P52848	p.Ala35ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150521356G>-	NCI-TCGA
NDST1	P52848	p.Tyr37Cys	rs1359048003	missense variant	-	NC_000005.10:g.150521364A>G	TOPMed
NDST1	P52848	p.Leu38Val	rs1237741707	missense variant	-	NC_000005.10:g.150521366C>G	gnomAD
NDST1	P52848	p.Gly40Asp	rs768165787	missense variant	-	NC_000005.10:g.150521373G>A	ExAC,gnomAD
NDST1	P52848	p.Gly40Val	rs768165787	missense variant	-	NC_000005.10:g.150521373G>T	ExAC,gnomAD
NDST1	P52848	p.Lys42Asn	rs973926101	missense variant	-	NC_000005.10:g.150521380G>T	TOPMed,gnomAD
NDST1	P52848	p.Arg43Gln	rs542457756	missense variant	-	NC_000005.10:g.150521382G>A	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg43Ter	rs1433448746	stop gained	-	NC_000005.10:g.150521381C>T	gnomAD
NDST1	P52848	p.Arg43Pro	rs542457756	missense variant	-	NC_000005.10:g.150521382G>C	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gly44Val	rs756408869	missense variant	-	NC_000005.10:g.150521385G>T	ExAC,gnomAD
NDST1	P52848	p.Ser48Trp	rs754000766	missense variant	-	NC_000005.10:g.150521397C>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ser48Leu	rs754000766	missense variant	-	NC_000005.10:g.150521397C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ser48Pro	rs1321737413	missense variant	-	NC_000005.10:g.150521396T>C	TOPMed,gnomAD
NDST1	P52848	p.Ser48Trp	RCV000503937	missense variant	-	NC_000005.10:g.150521397C>G	ClinVar
NDST1	P52848	p.Ala49Val	rs199512253	missense variant	-	NC_000005.10:g.150521400C>T	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala49Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150521399G>A	NCI-TCGA
NDST1	P52848	p.Ala51Gly	rs1218441095	missense variant	-	NC_000005.10:g.150521406C>G	TOPMed
NDST1	P52848	p.Glu53Lys	rs1281627289	missense variant	-	NC_000005.10:g.150521411G>A	gnomAD
NDST1	P52848	p.Pro54Arg	rs140436588	missense variant	-	NC_000005.10:g.150521415C>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asp55Glu	rs748167801	missense variant	-	NC_000005.10:g.150521419C>G	ExAC,gnomAD
NDST1	P52848	p.Gly57Arg	rs540715914	missense variant	-	NC_000005.10:g.150521423G>A	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asp58Ala	rs1488597166	missense variant	-	NC_000005.10:g.150521427A>C	gnomAD
NDST1	P52848	p.Asp58Tyr	rs770708585	missense variant	-	NC_000005.10:g.150521426G>T	ExAC,gnomAD
NDST1	P52848	p.Asp58Asn	rs770708585	missense variant	-	NC_000005.10:g.150521426G>A	ExAC,gnomAD
NDST1	P52848	p.Asp58ThrPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150521423G>-	NCI-TCGA
NDST1	P52848	p.Pro59Leu	rs559367014	missense variant	-	NC_000005.10:g.150521430C>T	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro60Leu	rs775828301	missense variant	-	NC_000005.10:g.150521433C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val62Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150521438G>T	NCI-TCGA
NDST1	P52848	p.Ala63Gly	rs764353194	missense variant	-	NC_000005.10:g.150521442C>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro64Ser	rs754214473	missense variant	-	NC_000005.10:g.150521444C>T	ExAC,gnomAD
NDST1	P52848	p.Ser65Gly	rs1317721899	missense variant	-	NC_000005.10:g.150521447A>G	gnomAD
NDST1	P52848	p.Arg66His	rs761957648	missense variant	-	NC_000005.10:g.150521451G>A	ExAC,gnomAD
NDST1	P52848	p.Arg66Cys	rs1350481166	missense variant	-	NC_000005.10:g.150521450C>T	gnomAD
NDST1	P52848	p.Arg66Leu	COSM6169980	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521451G>T	NCI-TCGA Cosmic
NDST1	P52848	p.Pro69Leu	rs750456010	missense variant	-	NC_000005.10:g.150521460C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro69Ser	COSM737221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521459C>T	NCI-TCGA Cosmic
NDST1	P52848	p.Leu70Phe	rs758451428	missense variant	-	NC_000005.10:g.150521462C>T	ExAC,gnomAD
NDST1	P52848	p.Lys71Asn	rs545691216	missense variant	-	NC_000005.10:g.150521467G>C	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val73Met	rs1222065550	missense variant	-	NC_000005.10:g.150521471G>A	gnomAD
NDST1	P52848	p.Val73Leu	rs1222065550	missense variant	-	NC_000005.10:g.150521471G>T	gnomAD
NDST1	P52848	p.Val73Ala	rs756138519	missense variant	-	NC_000005.10:g.150521472T>C	ExAC
NDST1	P52848	p.Ala75Gly	rs563878275	missense variant	-	NC_000005.10:g.150521478C>G	1000Genomes,ExAC,gnomAD
NDST1	P52848	p.Ala76Val	rs749123011	missense variant	-	NC_000005.10:g.150521481C>T	ExAC,gnomAD
NDST1	P52848	p.Thr77Ile	rs868838078	missense variant	-	NC_000005.10:g.150521484C>T	gnomAD
NDST1	P52848	p.Thr77Asn	rs868838078	missense variant	-	NC_000005.10:g.150521484C>A	gnomAD
NDST1	P52848	p.Pro78Ala	rs1224118318	missense variant	-	NC_000005.10:g.150521486C>G	gnomAD
NDST1	P52848	p.Pro78His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150521487C>A	NCI-TCGA
NDST1	P52848	p.Arg80Leu	rs145390254	missense variant	-	NC_000005.10:g.150521493G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg80His	RCV000502374	missense variant	-	NC_000005.10:g.150521493G>A	ClinVar
NDST1	P52848	p.Arg80Cys	rs770655306	missense variant	-	NC_000005.10:g.150521492C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg80His	rs145390254	missense variant	-	NC_000005.10:g.150521493G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg80His	RCV000622785	missense variant	Inborn genetic diseases	NC_000005.10:g.150521493G>A	ClinVar
NDST1	P52848	p.Arg80His	RCV000678274	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150521493G>A	ClinVar
NDST1	P52848	p.Thr81Pro	rs771478008	missense variant	-	NC_000005.10:g.150521495A>C	ExAC,gnomAD
NDST1	P52848	p.Thr81Ala	rs771478008	missense variant	-	NC_000005.10:g.150521495A>G	ExAC,gnomAD
NDST1	P52848	p.Asp82Asn	rs896177805	missense variant	-	NC_000005.10:g.150521498G>A	TOPMed,gnomAD
NDST1	P52848	p.Pro83Gln	rs370641189	missense variant	-	NC_000005.10:g.150521502C>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro83Leu	rs370641189	missense variant	-	NC_000005.10:g.150521502C>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val85Met	rs1045644220	missense variant	-	NC_000005.10:g.150521507G>A	gnomAD
NDST1	P52848	p.Val87Ile	rs373986253	missense variant	-	NC_000005.10:g.150521513G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ser91Asn	rs1410736188	missense variant	-	NC_000005.10:g.150521526G>A	gnomAD
NDST1	P52848	p.Leu92Val	rs1398339845	missense variant	-	NC_000005.10:g.150521528C>G	TOPMed
NDST1	P52848	p.Ser94Leu	rs1302936367	missense variant	-	NC_000005.10:g.150521535C>T	TOPMed
NDST1	P52848	p.Gln95Pro	rs1397759604	missense variant	-	NC_000005.10:g.150521538A>C	TOPMed
NDST1	P52848	p.Gly97Asp	rs766358150	missense variant	-	NC_000005.10:g.150521544G>A	ExAC,gnomAD
NDST1	P52848	p.Gln98Arg	rs751678749	missense variant	-	NC_000005.10:g.150521547A>G	ExAC,gnomAD
NDST1	P52848	p.Val101Leu	rs755942206	missense variant	-	NC_000005.10:g.150521555G>T	ExAC,gnomAD
NDST1	P52848	p.Ile103Leu	rs986825914	missense variant	-	NC_000005.10:g.150521561A>C	TOPMed
NDST1	P52848	p.Glu105Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150521567G>C	NCI-TCGA
NDST1	P52848	p.Arg108His	rs757083883	missense variant	-	NC_000005.10:g.150521577G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg108Cys	rs887501929	missense variant	-	NC_000005.10:g.150521576C>T	TOPMed,gnomAD
NDST1	P52848	p.Arg108His	RCV000500299	missense variant	-	NC_000005.10:g.150521577G>A	ClinVar
NDST1	P52848	p.Lys110Gln	rs778917661	missense variant	-	NC_000005.10:g.150521582A>C	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Lys110Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150521583A>G	NCI-TCGA
NDST1	P52848	p.Arg112His	rs779363036	missense variant	-	NC_000005.10:g.150521589G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg112Cys	rs138962514	missense variant	-	NC_000005.10:g.150521588C>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg112Cys	RCV000623829	missense variant	Inborn genetic diseases	NC_000005.10:g.150521588C>T	ClinVar
NDST1	P52848	p.Thr113Ser	rs1199534048	missense variant	-	NC_000005.10:g.150521591A>T	TOPMed
NDST1	P52848	p.Glu114Ter	rs1085307082	stop gained	-	NC_000005.10:g.150521594G>T	-
NDST1	P52848	p.Glu114Ter	RCV000490491	nonsense	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150521594G>T	ClinVar
NDST1	P52848	p.Ile115Asn	COSM1435208	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521598T>A	NCI-TCGA Cosmic
NDST1	P52848	p.Ala116Val	rs142187384	missense variant	-	NC_000005.10:g.150521601C>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro117Leu	rs868757423	missense variant	-	NC_000005.10:g.150521604C>T	gnomAD
NDST1	P52848	p.Gly120Arg	rs1306915194	missense variant	-	NC_000005.10:g.150521612G>C	TOPMed
NDST1	P52848	p.Met122Thr	rs1407955085	missense variant	-	NC_000005.10:g.150521619T>C	gnomAD
NDST1	P52848	p.Thr124Met	rs770142868	missense variant	-	NC_000005.10:g.150521625C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Lys128Glu	rs1389491054	missense variant	-	NC_000005.10:g.150521636A>G	TOPMed
NDST1	P52848	p.Lys128Arg	rs763032316	missense variant	-	NC_000005.10:g.150521637A>G	ExAC,gnomAD
NDST1	P52848	p.Arg130Cys	rs746465319	missense variant	-	NC_000005.10:g.150521642C>T	ExAC,gnomAD
NDST1	P52848	p.Arg130His	rs148227466	missense variant	-	NC_000005.10:g.150521643G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gly131Ser	rs1459245534	missense variant	-	NC_000005.10:g.150521645G>A	TOPMed
NDST1	P52848	p.Arg132Leu	rs141135213	missense variant	-	NC_000005.10:g.150521649G>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg132Cys	rs200193567	missense variant	-	NC_000005.10:g.150521648C>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg132His	rs141135213	missense variant	-	NC_000005.10:g.150521649G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala134Thr	rs757320453	missense variant	-	NC_000005.10:g.150521654G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ile136Val	rs1243077843	missense variant	-	NC_000005.10:g.150521660A>G	gnomAD
NDST1	P52848	p.Tyr138Cys	rs1300715804	missense variant	-	NC_000005.10:g.150521667A>G	gnomAD
NDST1	P52848	p.Glu139Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150521671G>C	NCI-TCGA
NDST1	P52848	p.Ala149Val	rs150722562	missense variant	-	NC_000005.10:g.150521700C>T	ESP,TOPMed,gnomAD
NDST1	P52848	p.Ala149Ser	rs375384137	missense variant	-	NC_000005.10:g.150521699G>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala149Thr	rs375384137	missense variant	-	NC_000005.10:g.150521699G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg152Trp	rs770302254	missense variant	-	NC_000005.10:g.150521708C>T	ExAC,gnomAD
NDST1	P52848	p.Arg152Gln	rs773501881	missense variant	-	NC_000005.10:g.150521709G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Leu154Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150521715T>A	NCI-TCGA
NDST1	P52848	p.Asp156Glu	rs938813093	missense variant	-	NC_000005.10:g.150521722C>G	TOPMed
NDST1	P52848	p.Asp156Asn	COSM3612546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521720G>A	NCI-TCGA Cosmic
NDST1	P52848	p.Cys159Ser	rs749697505	missense variant	-	NC_000005.10:g.150521730G>C	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala161Ser	rs1238644207	missense variant	-	NC_000005.10:g.150521735G>T	TOPMed
NDST1	P52848	p.Gly163Ser	rs773073595	missense variant	-	NC_000005.10:g.150521741G>A	gnomAD
NDST1	P52848	p.Val164Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150521744G>A	NCI-TCGA
NDST1	P52848	p.Gly165Ser	COSM3852791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150521747G>A	NCI-TCGA Cosmic
NDST1	P52848	p.Ile167Thr	rs759741142	missense variant	-	NC_000005.10:g.150521754T>C	ExAC,gnomAD
NDST1	P52848	p.Lys171Glu	rs1279417998	missense variant	-	NC_000005.10:g.150521765A>G	gnomAD
NDST1	P52848	p.Ser179Gly	rs370225862	missense variant	-	NC_000005.10:g.150527825A>G	ESP,ExAC,gnomAD
NDST1	P52848	p.Ala180Val	rs374701769	missense variant	-	NC_000005.10:g.150527829C>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gln181Lys	rs368200657	missense variant	-	NC_000005.10:g.150527831C>A	ESP,gnomAD
NDST1	P52848	p.Lys183Gln	rs757716084	missense variant	-	NC_000005.10:g.150527837A>C	ExAC,gnomAD
NDST1	P52848	p.Leu187CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150527845C>-	NCI-TCGA
NDST1	P52848	p.His190Tyr	rs746264670	missense variant	-	NC_000005.10:g.150527858C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asn192Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150527865A>G	NCI-TCGA
NDST1	P52848	p.Cys198Tyr	rs1299549960	missense variant	-	NC_000005.10:g.150527883G>A	gnomAD
NDST1	P52848	p.Cys198Gly	rs747276069	missense variant	-	NC_000005.10:g.150527882T>G	ExAC,gnomAD
NDST1	P52848	p.Pro202Ser	rs776634682	missense variant	-	NC_000005.10:g.150527894C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro205Leu	rs991860618	missense variant	-	NC_000005.10:g.150527904C>T	TOPMed,gnomAD
NDST1	P52848	p.Pro205Ser	rs762892510	missense variant	-	NC_000005.10:g.150527903C>T	ExAC,gnomAD
NDST1	P52848	p.Tyr208Cys	COSM3852792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150527913A>G	NCI-TCGA Cosmic
NDST1	P52848	p.Val209Met	rs774158648	missense variant	-	NC_000005.10:g.150527915G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Thr210Lys	rs767336817	missense variant	-	NC_000005.10:g.150527919C>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Thr210Ala	rs759353472	missense variant	-	NC_000005.10:g.150527918A>G	ExAC,gnomAD
NDST1	P52848	p.Thr210Met	rs767336817	missense variant	-	NC_000005.10:g.150527919C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Thr210Met	RCV000500740	missense variant	-	NC_000005.10:g.150527919C>T	ClinVar
NDST1	P52848	p.Arg211Gln	rs143730864	missense variant	-	NC_000005.10:g.150527922G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro212Leu	rs1309539410	missense variant	-	NC_000005.10:g.150527925C>T	gnomAD
NDST1	P52848	p.Ser213Arg	rs763600387	missense variant	-	NC_000005.10:g.150527929C>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ser213Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.150527925_150527926insATAACAGTGG	NCI-TCGA
NDST1	P52848	p.Glu214Lys	rs753290715	missense variant	-	NC_000005.10:g.150527930G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gly218Val	rs763682949	missense variant	-	NC_000005.10:g.150527943G>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gly218Asp	rs763682949	missense variant	-	NC_000005.10:g.150527943G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val219Leu	rs779309764	missense variant	-	NC_000005.10:g.150527945G>T	ExAC,gnomAD
NDST1	P52848	p.Leu220Ile	rs1180821576	missense variant	-	NC_000005.10:g.150527948C>A	gnomAD
NDST1	P52848	p.Pro221Ser	rs1347410782	missense variant	-	NC_000005.10:g.150527951C>T	TOPMed
NDST1	P52848	p.Gly222Ser	rs758804616	missense variant	-	NC_000005.10:g.150527954G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Glu223Lys	rs747223010	missense variant	-	NC_000005.10:g.150527957G>A	ExAC,gnomAD
NDST1	P52848	p.Asp224His	rs1372128382	missense variant	-	NC_000005.10:g.150527960G>C	TOPMed
NDST1	P52848	p.Thr226Met	rs147230606	missense variant	-	NC_000005.10:g.150527967C>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val227Ile	rs1404563079	missense variant	-	NC_000005.10:g.150527969G>A	gnomAD
NDST1	P52848	p.Ser230Leu	rs1290116298	missense variant	-	NC_000005.10:g.150527979C>T	TOPMed
NDST1	P52848	p.Tyr235Cys	rs1374488689	missense variant	-	NC_000005.10:g.150527994A>G	TOPMed
NDST1	P52848	p.Val238Ala	rs1171288303	missense variant	-	NC_000005.10:g.150528003T>C	TOPMed
NDST1	P52848	p.Val238Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150528002G>C	NCI-TCGA
NDST1	P52848	p.Lys242Glu	rs745869251	missense variant	-	NC_000005.10:g.150528014A>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Thr243Met	rs149727326	missense variant	-	NC_000005.10:g.150528018C>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Thr243Met	rs149727326	missense variant	-	NC_000005.10:g.150528018C>T	NCI-TCGA
NDST1	P52848	p.Arg244Ser	rs375092472	missense variant	-	NC_000005.10:g.150528020C>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg244Cys	rs375092472	missense variant	-	NC_000005.10:g.150528020C>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg244His	rs545657188	missense variant	-	NC_000005.10:g.150528021G>A	1000Genomes,TOPMed,gnomAD
NDST1	P52848	p.Arg244Leu	rs545657188	missense variant	-	NC_000005.10:g.150528021G>T	1000Genomes,TOPMed,gnomAD
NDST1	P52848	p.Arg244Cys	RCV000502036	missense variant	-	NC_000005.10:g.150528020C>T	ClinVar
NDST1	P52848	p.Ser245Leu	rs144719078	missense variant	-	NC_000005.10:g.150528024C>T	ESP
NDST1	P52848	p.Glu247Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150528029G>C	NCI-TCGA
NDST1	P52848	p.Ser248Phe	rs781638425	missense variant	-	NC_000005.10:g.150528033C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Leu252Pro	rs142755613	missense variant	-	NC_000005.10:g.150528045T>C	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Leu252Arg	rs142755613	missense variant	-	NC_000005.10:g.150528045T>G	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala254Thr	rs146548363	missense variant	-	NC_000005.10:g.150528050G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala256Thr	rs141266229	missense variant	-	NC_000005.10:g.150528056G>A	ESP,ExAC,gnomAD
NDST1	P52848	p.Gly257Arg	rs756139129	missense variant	-	NC_000005.10:g.150528059G>C	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gly257Ser	rs756139129	missense variant	-	NC_000005.10:g.150528059G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.His259Leu	rs932964780	missense variant	-	NC_000005.10:g.150528066A>T	TOPMed
NDST1	P52848	p.His259Arg	rs932964780	missense variant	-	NC_000005.10:g.150528066A>G	TOPMed
NDST1	P52848	p.Ala260Thr	rs1460226885	missense variant	-	NC_000005.10:g.150528068G>A	TOPMed
NDST1	P52848	p.Leu262Met	rs1418499236	missense variant	-	NC_000005.10:g.150528074C>A	TOPMed,gnomAD
NDST1	P52848	p.Leu262Pro	rs1034496595	missense variant	-	NC_000005.10:g.150528075T>C	TOPMed
NDST1	P52848	p.His263Tyr	rs1346413247	missense variant	-	NC_000005.10:g.150528077C>T	gnomAD
NDST1	P52848	p.Ala264Thr	rs144099500	missense variant	-	NC_000005.10:g.150528080G>A	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Leu270Arg	rs1218511902	missense variant	-	NC_000005.10:g.150528099T>G	gnomAD
NDST1	P52848	p.Leu272Pro	rs1318156238	missense variant	-	NC_000005.10:g.150528105T>C	gnomAD
NDST1	P52848	p.His273Tyr	RCV000503071	missense variant	-	NC_000005.10:g.150528107C>T	ClinVar
NDST1	P52848	p.His273Tyr	rs1261991074	missense variant	-	NC_000005.10:g.150528107C>T	gnomAD
NDST1	P52848	p.His273Leu	rs942941060	missense variant	-	NC_000005.10:g.150528108A>T	TOPMed
NDST1	P52848	p.Gly275Ser	rs1040288040	missense variant	-	NC_000005.10:g.150528113G>A	TOPMed,gnomAD
NDST1	P52848	p.Ile276Asn	rs761584248	missense variant	-	NC_000005.10:g.150528117T>A	ExAC,gnomAD
NDST1	P52848	p.Gln277Arg	rs772851364	missense variant	-	NC_000005.10:g.150528120A>G	ExAC,gnomAD
NDST1	P52848	p.Arg278His	rs140652741	missense variant	-	NC_000005.10:g.150528123G>A	ESP,ExAC,gnomAD
NDST1	P52848	p.Val279Leu	rs150461859	missense variant	-	NC_000005.10:g.150528125G>C	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val279Leu	rs150461859	missense variant	-	NC_000005.10:g.150528125G>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val279Met	rs150461859	missense variant	-	NC_000005.10:g.150528125G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asn283His	rs569758058	missense variant	-	NC_000005.10:g.150528137A>C	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asn283Tyr	rs569758058	missense variant	-	NC_000005.10:g.150528137A>T	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asn284Ser	rs777774950	missense variant	-	NC_000005.10:g.150528141A>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Leu285Arg	rs1327687606	missense variant	-	NC_000005.10:g.150528144T>G	TOPMed
NDST1	P52848	p.Phe287Leu	rs749395237	missense variant	-	NC_000005.10:g.150528151C>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Trp288Ter	COSM1064373	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.150528154G>A	NCI-TCGA Cosmic
NDST1	P52848	p.Lys291Gln	rs931213084	missense variant	-	NC_000005.10:g.150528161A>C	TOPMed,gnomAD
NDST1	P52848	p.Lys291Arg	rs1237283391	missense variant	-	NC_000005.10:g.150528162A>G	gnomAD
NDST1	P52848	p.Lys291Glu	rs931213084	missense variant	-	NC_000005.10:g.150528161A>G	TOPMed,gnomAD
NDST1	P52848	p.Val295Met	rs747017483	missense variant	-	NC_000005.10:g.150528173G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val295Met	rs747017483	missense variant	-	NC_000005.10:g.150528173G>A	NCI-TCGA,NCI-TCGA Cosmic
NDST1	P52848	p.Val295Met	RCV000489709	missense variant	-	NC_000005.10:g.150528173G>A	ClinVar
NDST1	P52848	p.Ala297Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150528179G>A	NCI-TCGA
NDST1	P52848	p.Val298Met	rs781107915	missense variant	-	NC_000005.10:g.150528182G>A	ExAC,gnomAD
NDST1	P52848	p.Val298Leu	rs781107915	missense variant	-	NC_000005.10:g.150528182G>T	ExAC,gnomAD
NDST1	P52848	p.Ala299Gly	rs747688028	missense variant	-	NC_000005.10:g.150528186C>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Phe300Val	rs772797945	missense variant	-	NC_000005.10:g.150528188T>G	ExAC,gnomAD
NDST1	P52848	p.Thr302Ser	rs762580262	missense variant	-	NC_000005.10:g.150528194A>T	ExAC,gnomAD
NDST1	P52848	p.Thr302Met	rs148852608	missense variant	-	NC_000005.10:g.150528195C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Thr302Met	rs148852608	missense variant	-	NC_000005.10:g.150528195C>T	NCI-TCGA
NDST1	P52848	p.Gly303Glu	rs767036872	missense variant	-	NC_000005.10:g.150528198G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg305Cys	rs199755956	missense variant	-	NC_000005.10:g.150528203C>T	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg305His	rs200616920	missense variant	-	NC_000005.10:g.150528204G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg305His	rs200616920	missense variant	-	NC_000005.10:g.150528204G>A	NCI-TCGA,NCI-TCGA Cosmic
NDST1	P52848	p.Ser307Pro	rs1444550577	missense variant	-	NC_000005.10:g.150528209T>C	gnomAD
NDST1	P52848	p.Ser307Phe	rs1308463686	missense variant	-	NC_000005.10:g.150528210C>T	gnomAD
NDST1	P52848	p.Pro309Thr	rs143420319	missense variant	-	NC_000005.10:g.150528215C>A	ESP
NDST1	P52848	p.Arg312Cys	rs768860349	missense variant	-	NC_000005.10:g.150528224C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg312His	rs779022603	missense variant	-	NC_000005.10:g.150528225G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ile314Met	rs1275618642	missense variant	-	NC_000005.10:g.150528232C>G	TOPMed,gnomAD
NDST1	P52848	p.Asp317Tyr	COSM6169979	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150528239G>T	NCI-TCGA Cosmic
NDST1	P52848	p.Ile318Val	rs1043066682	missense variant	-	NC_000005.10:g.150528242A>G	TOPMed,gnomAD
NDST1	P52848	p.Ile321Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150528253C>G	NCI-TCGA
NDST1	P52848	p.Val323Leu	rs1392222515	missense variant	-	NC_000005.10:g.150528257G>C	TOPMed
NDST1	P52848	p.Val323Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150528257G>A	NCI-TCGA
NDST1	P52848	p.Lys325Arg	rs780790768	missense variant	-	NC_000005.10:g.150528264A>G	ExAC,gnomAD
NDST1	P52848	p.Gly327Asp	rs1325372759	missense variant	-	NC_000005.10:g.150528270G>A	TOPMed
NDST1	P52848	p.Thr328Lys	rs1185571782	missense variant	-	NC_000005.10:g.150528273C>A	gnomAD
NDST1	P52848	p.Arg329Pro	rs747996016	missense variant	-	NC_000005.10:g.150528276G>C	ExAC,gnomAD
NDST1	P52848	p.Arg329His	rs747996016	missense variant	-	NC_000005.10:g.150528276G>A	ExAC,gnomAD
NDST1	P52848	p.Arg329His	rs747996016	missense variant	-	NC_000005.10:g.150528276G>A	NCI-TCGA
NDST1	P52848	p.Arg329Cys	rs1368083956	missense variant	-	NC_000005.10:g.150528275C>T	gnomAD
NDST1	P52848	p.Arg329Leu	COSM737220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150528276G>T	NCI-TCGA Cosmic
NDST1	P52848	p.Val332Leu	rs777533136	missense variant	-	NC_000005.10:g.150528284G>T	ExAC,gnomAD
NDST1	P52848	p.Val332Met	rs777533136	missense variant	-	NC_000005.10:g.150528284G>A	ExAC,gnomAD
NDST1	P52848	p.Val335Met	rs200286652	missense variant	-	NC_000005.10:g.150528293G>A	ExAC,gnomAD
NDST1	P52848	p.Phe339Ser	rs747573686	missense variant	-	NC_000005.10:g.150532952T>C	ExAC,gnomAD
NDST1	P52848	p.Phe339Leu	rs1453825359	missense variant	-	NC_000005.10:g.150532953T>G	gnomAD
NDST1	P52848	p.Asp340Gly	rs1159973626	missense variant	-	NC_000005.10:g.150532955A>G	gnomAD
NDST1	P52848	p.Glu344Lys	rs776984233	missense variant	-	NC_000005.10:g.150532966G>A	ExAC,gnomAD
NDST1	P52848	p.Glu344Lys	rs776984233	missense variant	-	NC_000005.10:g.150532966G>A	NCI-TCGA,NCI-TCGA Cosmic
NDST1	P52848	p.Arg346Cys	rs765517040	missense variant	-	NC_000005.10:g.150532972C>T	ExAC,gnomAD
NDST1	P52848	p.Arg346His	rs1385484863	missense variant	-	NC_000005.10:g.150532973G>A	gnomAD
NDST1	P52848	p.Ala347Thr	rs141240993	missense variant	-	NC_000005.10:g.150532975G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asn355Lys	rs756183118	missense variant	-	NC_000005.10:g.150533001C>G	ExAC,gnomAD
NDST1	P52848	p.Tyr358Phe	rs763929007	missense variant	-	NC_000005.10:g.150533009A>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.His364Tyr	rs1436915407	missense variant	-	NC_000005.10:g.150533026C>T	gnomAD
NDST1	P52848	p.His364Pro	COSM737219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150533027A>C	NCI-TCGA Cosmic
NDST1	P52848	p.Thr365Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150533029A>T	NCI-TCGA
NDST1	P52848	p.Gly366Ser	rs1207890832	missense variant	-	NC_000005.10:g.150533032G>A	gnomAD
NDST1	P52848	p.Ala369Thr	rs1164509039	missense variant	-	NC_000005.10:g.150534875G>A	gnomAD
NDST1	P52848	p.Ala372Thr	rs377365968	missense variant	-	NC_000005.10:g.150534884G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala372Ser	rs377365968	missense variant	-	NC_000005.10:g.150534884G>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala372Thr	rs377365968	missense variant	-	NC_000005.10:g.150534884G>A	NCI-TCGA
NDST1	P52848	p.Ser379Leu	rs1329844489	missense variant	-	NC_000005.10:g.150534906C>T	TOPMed,gnomAD
NDST1	P52848	p.Trp385Arg	rs748699863	missense variant	-	NC_000005.10:g.150534923T>C	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Trp385Ser	rs1228451284	missense variant	-	NC_000005.10:g.150534924G>C	TOPMed
NDST1	P52848	p.Met390Ile	rs770178778	missense variant	-	NC_000005.10:g.150534940G>A	ExAC,gnomAD
NDST1	P52848	p.Met390Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150534939T>C	NCI-TCGA
NDST1	P52848	p.Ser392Arg	rs778062322	missense variant	-	NC_000005.10:g.150534946C>A	ExAC,gnomAD
NDST1	P52848	p.Pro396Ser	rs1334381648	missense variant	-	NC_000005.10:g.150534956C>T	TOPMed
NDST1	P52848	p.His397Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150534960A>T	NCI-TCGA
NDST1	P52848	p.His400Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150534968C>T	NCI-TCGA
NDST1	P52848	p.Asn401Asp	rs1291857221	missense variant	-	NC_000005.10:g.150534971A>G	TOPMed
NDST1	P52848	p.Gln402Arg	rs1235493814	missense variant	-	NC_000005.10:g.150534975A>G	TOPMed
NDST1	P52848	p.Val404Met	rs371020778	missense variant	-	NC_000005.10:g.150534980G>A	ESP,ExAC,gnomAD
NDST1	P52848	p.Ala406Val	rs1328755084	missense variant	-	NC_000005.10:g.150534987C>T	TOPMed
NDST1	P52848	p.Glu407Lys	rs920466423	missense variant	-	NC_000005.10:g.150534989G>A	TOPMed,gnomAD
NDST1	P52848	p.Gln408Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.150534992C>T	NCI-TCGA
NDST1	P52848	p.Ala410Thr	COSM3852793	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150534998G>A	NCI-TCGA Cosmic
NDST1	P52848	p.Lys413Asn	rs1180877278	missense variant	-	NC_000005.10:g.150535009G>T	gnomAD
NDST1	P52848	p.Phe415Leu	rs772329738	missense variant	-	NC_000005.10:g.150535015C>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala416Thr	rs1478993046	missense variant	-	NC_000005.10:g.150535016G>A	gnomAD
NDST1	P52848	p.Ala416Ser	rs1478993046	missense variant	-	NC_000005.10:g.150535016G>T	gnomAD
NDST1	P52848	p.Ala416Thr	rs1478993046	missense variant	-	NC_000005.10:g.150535016G>A	NCI-TCGA
NDST1	P52848	p.Val417Asp	rs765016122	missense variant	-	NC_000005.10:g.150535020T>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val417Phe	rs761725626	missense variant	-	NC_000005.10:g.150535019G>T	ExAC,gnomAD
NDST1	P52848	p.Val417Ile	rs761725626	missense variant	-	NC_000005.10:g.150535019G>A	ExAC,gnomAD
NDST1	P52848	p.Glu418Gly	rs759249762	missense variant	-	NC_000005.10:g.150535701A>G	ExAC,gnomAD
NDST1	P52848	p.Gly420Asp	rs1245456252	missense variant	-	NC_000005.10:g.150535707G>A	gnomAD
NDST1	P52848	p.Gly420Asp	rs1245456252	missense variant	-	NC_000005.10:g.150535707G>A	NCI-TCGA Cosmic
NDST1	P52848	p.Pro422His	rs1177841215	missense variant	-	NC_000005.10:g.150535713C>A	TOPMed,gnomAD
NDST1	P52848	p.Pro422Leu	rs1177841215	missense variant	-	NC_000005.10:g.150535713C>T	TOPMed,gnomAD
NDST1	P52848	p.Thr423Ile	rs373375818	missense variant	-	NC_000005.10:g.150535716C>T	ESP,TOPMed
NDST1	P52848	p.Thr423Ala	rs1382191228	missense variant	-	NC_000005.10:g.150535715A>G	TOPMed,gnomAD
NDST1	P52848	p.Asp424Asn	rs769094227	missense variant	-	NC_000005.10:g.150535718G>A	ExAC,gnomAD
NDST1	P52848	p.Tyr427Cys	rs1158236589	missense variant	-	NC_000005.10:g.150535728A>G	gnomAD
NDST1	P52848	p.Ala428Thr	rs1200683958	missense variant	-	NC_000005.10:g.150535730G>A	TOPMed,gnomAD
NDST1	P52848	p.Ala428Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150535731C>T	NCI-TCGA
NDST1	P52848	p.Ala430Val	rs1386142350	missense variant	-	NC_000005.10:g.150535737C>T	gnomAD
NDST1	P52848	p.His433Asn	rs1405703587	missense variant	-	NC_000005.10:g.150535745C>A	gnomAD
NDST1	P52848	p.Ser434Leu	rs1348032579	missense variant	-	NC_000005.10:g.150535749C>T	gnomAD
NDST1	P52848	p.Gly435Val	rs1452233216	missense variant	-	NC_000005.10:g.150535752G>T	TOPMed
NDST1	P52848	p.Val436Met	rs754419698	missense variant	-	NC_000005.10:g.150535754G>A	NCI-TCGA
NDST1	P52848	p.Val436Met	rs754419698	missense variant	-	NC_000005.10:g.150535754G>A	ExAC,gnomAD
NDST1	P52848	p.Val436Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150535755T>C	NCI-TCGA
NDST1	P52848	p.Tyr437Phe	rs1440221859	missense variant	-	NC_000005.10:g.150535758A>T	gnomAD
NDST1	P52848	p.Tyr437His	COSM4877102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150535757T>C	NCI-TCGA Cosmic
NDST1	P52848	p.Val439Met	rs1263244153	missense variant	-	NC_000005.10:g.150535763G>A	TOPMed,gnomAD
NDST1	P52848	p.Val441Leu	rs746022379	missense variant	-	NC_000005.10:g.150535769G>T	ExAC,gnomAD
NDST1	P52848	p.Val441Met	rs746022379	missense variant	-	NC_000005.10:g.150535769G>A	ExAC,gnomAD
NDST1	P52848	p.Val441Met	rs746022379	missense variant	-	NC_000005.10:g.150535769G>A	NCI-TCGA,NCI-TCGA Cosmic
NDST1	P52848	p.Glu445Lys	rs747089755	missense variant	-	NC_000005.10:g.150535781G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Trp447Ter	rs1199751014	stop gained	-	NC_000005.10:g.150535788G>A	gnomAD
NDST1	P52848	p.Lys448Glu	rs1240610311	missense variant	-	NC_000005.10:g.150535790A>G	gnomAD
NDST1	P52848	p.Gln449Arg	rs768818614	missense variant	-	NC_000005.10:g.150535794A>G	ExAC,gnomAD
NDST1	P52848	p.Ser452Asn	rs1488549449	missense variant	-	NC_000005.10:g.150535803G>A	TOPMed
NDST1	P52848	p.Arg454His	rs749302769	missense variant	-	NC_000005.10:g.150535809G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg454Cys	RCV000660596	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150535808C>T	ClinVar
NDST1	P52848	p.Arg454Cys	rs150009231	missense variant	-	NC_000005.10:g.150535808C>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg454Cys	rs150009231	missense variant	-	NC_000005.10:g.150535808C>T	NCI-TCGA
NDST1	P52848	p.Val455Met	rs1411275321	missense variant	-	NC_000005.10:g.150535811G>A	gnomAD
NDST1	P52848	p.Ser457Gly	rs1171241571	missense variant	-	NC_000005.10:g.150535817A>G	gnomAD
NDST1	P52848	p.Thr458Met	rs1402434835	missense variant	-	NC_000005.10:g.150535821C>T	gnomAD
NDST1	P52848	p.Glu460Gly	rs1214134980	missense variant	-	NC_000005.10:g.150535827A>G	TOPMed
NDST1	P52848	p.His463Asn	rs1340689021	missense variant	-	NC_000005.10:g.150535835C>A	gnomAD
NDST1	P52848	p.Leu464Val	rs1360324160	missense variant	-	NC_000005.10:g.150535838C>G	TOPMed
NDST1	P52848	p.Pro466Ala	rs1282075506	missense variant	-	NC_000005.10:g.150535844C>G	TOPMed,gnomAD
NDST1	P52848	p.Arg468Cys	rs772602993	missense variant	-	NC_000005.10:g.150535850C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg468His	rs763721142	missense variant	-	NC_000005.10:g.150535851G>A	ExAC,gnomAD
NDST1	P52848	p.Arg470His	rs754297456	missense variant	-	NC_000005.10:g.150535857G>A	ExAC,gnomAD
NDST1	P52848	p.Arg470His	rs754297456	missense variant	-	NC_000005.10:g.150535857G>A	NCI-TCGA,NCI-TCGA Cosmic
NDST1	P52848	p.Arg470Cys	rs746257815	missense variant	-	NC_000005.10:g.150535856C>T	gnomAD
NDST1	P52848	p.Arg471His	rs370958231	missense variant	-	NC_000005.10:g.150535860G>A	ExAC,gnomAD
NDST1	P52848	p.Arg471Cys	rs182500942	missense variant	-	NC_000005.10:g.150535859C>T	1000Genomes,gnomAD
NDST1	P52848	p.Arg471Cys	rs182500942	missense variant	-	NC_000005.10:g.150535859C>T	NCI-TCGA
NDST1	P52848	p.His475Gln	rs1444215146	missense variant	-	NC_000005.10:g.150535873C>A	gnomAD
NDST1	P52848	p.Asn476Ser	rs537879672	missense variant	-	NC_000005.10:g.150535875A>G	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gly477Asp	rs1432317435	missense variant	-	NC_000005.10:g.150535878G>A	TOPMed
NDST1	P52848	p.Gly477Ser	rs556563253	missense variant	-	NC_000005.10:g.150535877G>A	1000Genomes,ExAC,gnomAD
NDST1	P52848	p.Met479Ile	rs1194177554	missense variant	-	NC_000005.10:g.150535885G>A	gnomAD
NDST1	P52848	p.Met479Val	rs1474740356	missense variant	-	NC_000005.10:g.150535883A>G	gnomAD
NDST1	P52848	p.Met479Lys	rs907176822	missense variant	-	NC_000005.10:g.150535884T>A	TOPMed
NDST1	P52848	p.Val480Ile	COSM1064379	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150539228G>A	NCI-TCGA Cosmic
NDST1	P52848	p.Leu481Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150539231C>A	NCI-TCGA
NDST1	P52848	p.Pro482Leu	rs1354507217	missense variant	-	NC_000005.10:g.150539235C>T	gnomAD
NDST1	P52848	p.Arg483Gln	rs756229591	missense variant	-	NC_000005.10:g.150539238G>A	ExAC,gnomAD
NDST1	P52848	p.Arg483Trp	rs1484836650	missense variant	-	NC_000005.10:g.150539237C>T	TOPMed
NDST1	P52848	p.Leu488Val	rs745867567	missense variant	-	NC_000005.10:g.150539252C>G	ExAC,gnomAD
NDST1	P52848	p.His491Arg	rs1393899837	missense variant	-	NC_000005.10:g.150539262A>G	gnomAD
NDST1	P52848	p.Ile493ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150539256_150539257insCA	NCI-TCGA
NDST1	P52848	p.Asn496Ser	rs1322575564	missense variant	-	NC_000005.10:g.150539277A>G	TOPMed
NDST1	P52848	p.Glu497Lys	rs1378141295	missense variant	-	NC_000005.10:g.150539279G>A	gnomAD
NDST1	P52848	p.Tyr498His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150539282T>C	NCI-TCGA
NDST1	P52848	p.Pro499Ser	rs1225579460	missense variant	-	NC_000005.10:g.150539285C>T	TOPMed
NDST1	P52848	p.Gly501Cys	rs1286119272	missense variant	-	NC_000005.10:g.150539291G>T	TOPMed,gnomAD
NDST1	P52848	p.Gly501Ser	rs1286119272	missense variant	-	NC_000005.10:g.150539291G>A	TOPMed,gnomAD
NDST1	P52848	p.Ser503Arg	rs1294544711	missense variant	-	NC_000005.10:g.150539297A>C	gnomAD
NDST1	P52848	p.Ser503Thr	rs1393510278	missense variant	-	NC_000005.10:g.150539298G>C	gnomAD
NDST1	P52848	p.Glu504Asp	rs926691331	missense variant	-	NC_000005.10:g.150539302G>C	TOPMed,gnomAD
NDST1	P52848	p.Leu505Pro	rs1321829840	missense variant	-	NC_000005.10:g.150539304T>C	TOPMed
NDST1	P52848	p.Asp506Tyr	COSM1064380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150539306G>T	NCI-TCGA Cosmic
NDST1	P52848	p.Ile508Asn	rs761374750	missense variant	-	NC_000005.10:g.150539313T>A	ExAC,gnomAD
NDST1	P52848	p.Ile508Met	rs769475700	missense variant	-	NC_000005.10:g.150539314C>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ile508Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150539312A>T	NCI-TCGA
NDST1	P52848	p.Asn510Ser	rs938073124	missense variant	-	NC_000005.10:g.150539319A>G	TOPMed
NDST1	P52848	p.Asn510Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150539319A>T	NCI-TCGA
NDST1	P52848	p.Glu513Lys	rs1219511787	missense variant	-	NC_000005.10:g.150539327G>A	TOPMed,gnomAD
NDST1	P52848	p.Thr517Ile	rs1191800413	missense variant	-	NC_000005.10:g.150539340C>T	TOPMed
NDST1	P52848	p.Val518Met	rs373036695	missense variant	-	NC_000005.10:g.150539342G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asn521Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150539352A>G	NCI-TCGA
NDST1	P52848	p.Ile525Val	rs1259589895	missense variant	-	NC_000005.10:g.150540088A>G	gnomAD
NDST1	P52848	p.Ile525Leu	rs1259589895	missense variant	-	NC_000005.10:g.150540088A>C	gnomAD
NDST1	P52848	p.Phe526Cys	COSM288234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150540092T>G	NCI-TCGA Cosmic
NDST1	P52848	p.Met527Leu	rs146869691	missense variant	-	NC_000005.10:g.150540094A>T	ESP,ExAC,gnomAD
NDST1	P52848	p.Leu530Pro	COSM1064381	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150540104T>C	NCI-TCGA Cosmic
NDST1	P52848	p.Ser531Pro	rs746431565	missense variant	-	NC_000005.10:g.150540106T>C	ExAC,gnomAD
NDST1	P52848	p.Arg537His	rs1020582646	missense variant	-	NC_000005.10:g.150540125G>A	TOPMed
NDST1	P52848	p.Gly539Ser	rs775849833	missense variant	-	NC_000005.10:g.150540130G>A	ExAC,gnomAD
NDST1	P52848	p.Gly539Ser	rs775849833	missense variant	-	NC_000005.10:g.150540130G>A	NCI-TCGA,NCI-TCGA Cosmic
NDST1	P52848	p.Leu540Pro	rs760839553	missense variant	-	NC_000005.10:g.150540134T>C	ExAC,gnomAD
NDST1	P52848	p.Thr542Ala	rs903490051	missense variant	-	NC_000005.10:g.150540139A>G	TOPMed,gnomAD
NDST1	P52848	p.His545Gln	rs1000776454	missense variant	-	NC_000005.10:g.150540150C>G	TOPMed,gnomAD
NDST1	P52848	p.Leu546Val	rs1401648515	missense variant	-	NC_000005.10:g.150540151C>G	NCI-TCGA
NDST1	P52848	p.Leu546Val	rs1401648515	missense variant	-	NC_000005.10:g.150540151C>G	gnomAD
NDST1	P52848	p.Val547Met	rs1410444517	missense variant	-	NC_000005.10:g.150540154G>A	TOPMed
NDST1	P52848	p.Arg548Leu	rs201365274	missense variant	-	NC_000005.10:g.150540158G>T	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg548Cys	rs1219286910	missense variant	-	NC_000005.10:g.150540157C>T	TOPMed,gnomAD
NDST1	P52848	p.Arg548His	rs201365274	missense variant	-	NC_000005.10:g.150540158G>A	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Phe549Leu	rs765289660	missense variant	-	NC_000005.10:g.150540160T>C	ExAC,gnomAD
NDST1	P52848	p.Thr554Met	COSM1064383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150540176C>T	NCI-TCGA Cosmic
NDST1	P52848	p.Leu556Val	rs1467412171	missense variant	-	NC_000005.10:g.150540181C>G	gnomAD
NDST1	P52848	p.Arg557Trp	rs548986879	missense variant	-	NC_000005.10:g.150540184C>T	ExAC,gnomAD
NDST1	P52848	p.Arg557Gln	rs777533122	missense variant	-	NC_000005.10:g.150540185G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg557Trp	rs548986879	missense variant	-	NC_000005.10:g.150540184C>T	NCI-TCGA
NDST1	P52848	p.Pro562Ser	rs748954035	missense variant	-	NC_000005.10:g.150540199C>T	ExAC,gnomAD
NDST1	P52848	p.Pro563Leu	rs778295416	missense variant	-	NC_000005.10:g.150540203C>T	ExAC,gnomAD
NDST1	P52848	p.Pro563Ser	rs756789556	missense variant	-	NC_000005.10:g.150540202C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro563Ala	rs756789556	missense variant	-	NC_000005.10:g.150540202C>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val564Met	rs774976739	missense variant	-	NC_000005.10:g.150540205G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val564Leu	RCV000765824	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150540205G>C	ClinVar
NDST1	P52848	p.Val564Leu	RCV000513056	missense variant	-	NC_000005.10:g.150540205G>C	ClinVar
NDST1	P52848	p.Val564Leu	rs774976739	missense variant	-	NC_000005.10:g.150540205G>C	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Leu566Trp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150540212T>G	NCI-TCGA
NDST1	P52848	p.Tyr570His	COSM1064384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150540223T>C	NCI-TCGA Cosmic
NDST1	P52848	p.Gln572Ter	rs992384234	stop gained	-	NC_000005.10:g.150540229C>T	TOPMed
NDST1	P52848	p.Ser575Phe	rs1024786629	missense variant	-	NC_000005.10:g.150540239C>T	TOPMed
NDST1	P52848	p.Ser575Phe	rs1024786629	missense variant	-	NC_000005.10:g.150540239C>T	NCI-TCGA Cosmic
NDST1	P52848	p.Glu576Lys	rs151090184	missense variant	-	NC_000005.10:g.150540241G>A	ESP,ExAC,gnomAD
NDST1	P52848	p.Glu576Gln	rs151090184	missense variant	-	NC_000005.10:g.150540241G>C	ESP,ExAC,gnomAD
NDST1	P52848	p.Asp579Gly	rs763682889	missense variant	-	NC_000005.10:g.150540251A>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro580Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150540254C>T	NCI-TCGA
NDST1	P52848	p.Asp584His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150541570G>C	NCI-TCGA
NDST1	P52848	p.Pro585Leu	rs1359429635	missense variant	-	NC_000005.10:g.150541574C>T	gnomAD
NDST1	P52848	p.Glu587Gly	rs750126972	missense variant	-	NC_000005.10:g.150541580A>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Glu587Lys	rs1291890754	missense variant	-	NC_000005.10:g.150541579G>A	NCI-TCGA
NDST1	P52848	p.Glu587Val	rs750126972	missense variant	-	NC_000005.10:g.150541580A>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Glu587Lys	rs1291890754	missense variant	-	NC_000005.10:g.150541579G>A	TOPMed,gnomAD
NDST1	P52848	p.Asp588Glu	rs757892804	missense variant	-	NC_000005.10:g.150541584C>G	ExAC,gnomAD
NDST1	P52848	p.Arg590Cys	rs1287119644	missense variant	-	NC_000005.10:g.150541588C>T	TOPMed
NDST1	P52848	p.Arg590His	rs779604955	missense variant	-	NC_000005.10:g.150541589G>A	ExAC,gnomAD
NDST1	P52848	p.Lys592Glu	rs894747610	missense variant	-	NC_000005.10:g.150541594A>G	TOPMed
NDST1	P52848	p.Ile594LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150541599_150541600insCTTTCCTT	NCI-TCGA
NDST1	P52848	p.Trp595Leu	rs1195353917	missense variant	-	NC_000005.10:g.150541604G>T	gnomAD
NDST1	P52848	p.Trp595CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.150541601_150541602insTTGTAAAATGCAAA	NCI-TCGA
NDST1	P52848	p.Ser596Ala	rs202203750	missense variant	-	NC_000005.10:g.150541606T>G	TOPMed
NDST1	P52848	p.Ser596Pro	rs202203750	missense variant	-	NC_000005.10:g.150541606T>C	TOPMed
NDST1	P52848	p.Glu598Lys	COSM3852795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150541612G>A	NCI-TCGA Cosmic
NDST1	P52848	p.Arg603Leu	rs756538941	missense variant	-	NC_000005.10:g.150541628G>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg603Cys	rs748488030	missense variant	-	NC_000005.10:g.150541627C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg603His	rs756538941	missense variant	-	NC_000005.10:g.150541628G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Lys606Glu	rs1474771550	missense variant	-	NC_000005.10:g.150541636A>G	gnomAD
NDST1	P52848	p.Lys606Thr	COSM1435211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150541637A>C	NCI-TCGA Cosmic
NDST1	P52848	p.Ile610Val	rs749576849	missense variant	-	NC_000005.10:g.150541648A>G	ExAC,gnomAD
NDST1	P52848	p.Gly611Ser	rs606231459	missense variant	-	NC_000005.10:g.150541651G>A	ExAC,gnomAD
NDST1	P52848	p.Gly611Ser	rs606231459	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150541651G>A	UniProt,dbSNP
NDST1	P52848	p.Gly611Ser	VAR_072646	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150541651G>A	UniProt
NDST1	P52848	p.Gly611Ser	RCV000148928	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150541651G>A	ClinVar
NDST1	P52848	p.Thr617Ile	rs1295693644	missense variant	-	NC_000005.10:g.150542851C>T	gnomAD
NDST1	P52848	p.Thr618Ala	rs769407428	missense variant	-	NC_000005.10:g.150542853A>G	ExAC,gnomAD
NDST1	P52848	p.Ala619Asp	rs1251650218	missense variant	-	NC_000005.10:g.150542857C>A	TOPMed
NDST1	P52848	p.Leu620Phe	rs1262198889	missense variant	-	NC_000005.10:g.150542859C>T	gnomAD
NDST1	P52848	p.Phe623Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150542868T>G	NCI-TCGA
NDST1	P52848	p.Met626Val	rs1209640795	missense variant	-	NC_000005.10:g.150542877A>G	TOPMed
NDST1	P52848	p.His627Tyr	rs766050569	missense variant	-	NC_000005.10:g.150542880C>T	ExAC,gnomAD
NDST1	P52848	p.Pro628Ala	rs774028648	missense variant	-	NC_000005.10:g.150542883C>G	ExAC,gnomAD
NDST1	P52848	p.Tyr634Cys	rs1251991217	missense variant	-	NC_000005.10:g.150542902A>G	gnomAD
NDST1	P52848	p.Pro635Ala	rs753137532	missense variant	-	NC_000005.10:g.150542904C>G	ExAC,gnomAD
NDST1	P52848	p.Pro635Leu	rs1270890209	missense variant	-	NC_000005.10:g.150542905C>T	TOPMed
NDST1	P52848	p.Pro635Thr	rs753137532	missense variant	-	NC_000005.10:g.150542904C>A	ExAC,gnomAD
NDST1	P52848	p.Ser636Arg	rs756660358	missense variant	-	NC_000005.10:g.150542909C>A	ExAC,gnomAD
NDST1	P52848	p.Glu638Gln	rs764507688	missense variant	-	NC_000005.10:g.150542913G>C	ExAC
NDST1	P52848	p.Phe640Leu	rs606231458	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542919T>C	UniProt,dbSNP
NDST1	P52848	p.Phe640Leu	VAR_072647	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542919T>C	UniProt
NDST1	P52848	p.Phe640Leu	rs606231458	missense variant	-	NC_000005.10:g.150542919T>C	-
NDST1	P52848	p.Phe640Ser	rs1233152941	missense variant	-	NC_000005.10:g.150542920T>C	TOPMed,gnomAD
NDST1	P52848	p.Phe640Leu	RCV000148927	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542919T>C	ClinVar
NDST1	P52848	p.Glu642Asp	rs606231457	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542927G>T	UniProt,dbSNP
NDST1	P52848	p.Glu642Asp	VAR_072648	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542927G>T	UniProt
NDST1	P52848	p.Glu642Asp	rs606231457	missense variant	-	NC_000005.10:g.150542927G>T	-
NDST1	P52848	p.Glu642Asp	RCV000148926	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150542927G>T	ClinVar
NDST1	P52848	p.Ile643Phe	rs754289771	missense variant	-	NC_000005.10:g.150542928A>T	ExAC,gnomAD
NDST1	P52848	p.Asn647Asp	rs757740184	missense variant	-	NC_000005.10:g.150542940A>G	ExAC,gnomAD
NDST1	P52848	p.His649Pro	rs779255223	missense variant	-	NC_000005.10:g.150542947A>C	ExAC,gnomAD
NDST1	P52848	p.Asn650Ser	rs1325383302	missense variant	-	NC_000005.10:g.150542950A>G	TOPMed,gnomAD
NDST1	P52848	p.His652Leu	rs182542706	missense variant	-	NC_000005.10:g.150542956A>T	1000Genomes,TOPMed
NDST1	P52848	p.Lys653Arg	rs1236749778	missense variant	-	NC_000005.10:g.150542959A>G	TOPMed
NDST1	P52848	p.Asp656Val	rs1329246951	missense variant	-	NC_000005.10:g.150542968A>T	TOPMed
NDST1	P52848	p.Asp656Asn	rs150320391	missense variant	-	NC_000005.10:g.150542967G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Met659Val	rs1163965836	missense variant	-	NC_000005.10:g.150545316A>G	TOPMed
NDST1	P52848	p.Phe662Leu	rs777660504	missense variant	-	NC_000005.10:g.150545325T>C	ExAC,gnomAD
NDST1	P52848	p.Thr668Ile	rs1415628278	missense variant	-	NC_000005.10:g.150545344C>T	TOPMed
NDST1	P52848	p.Asp671Asn	rs1011218498	missense variant	-	NC_000005.10:g.150545352G>A	TOPMed
NDST1	P52848	p.Asp671Tyr	rs1011218498	missense variant	-	NC_000005.10:g.150545352G>T	TOPMed
NDST1	P52848	p.Asp671Asn	rs1011218498	missense variant	-	NC_000005.10:g.150545352G>A	NCI-TCGA Cosmic
NDST1	P52848	p.Asp671Tyr	rs1011218498	missense variant	-	NC_000005.10:g.150545352G>T	NCI-TCGA
NDST1	P52848	p.Asp671Gly	COSM1169039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150545353A>G	NCI-TCGA Cosmic
NDST1	P52848	p.Phe672Leu	rs938282382	missense variant	-	NC_000005.10:g.150545357C>A	TOPMed,gnomAD
NDST1	P52848	p.Phe672Leu	COSM3827418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150545357C>G	NCI-TCGA Cosmic
NDST1	P52848	p.Glu675Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150545365A>G	NCI-TCGA
NDST1	P52848	p.Lys676Asn	rs1056722061	missense variant	-	NC_000005.10:g.150545369A>C	TOPMed
NDST1	P52848	p.Lys676Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150545368A>C	NCI-TCGA
NDST1	P52848	p.Ser677Arg	rs139041226	missense variant	-	NC_000005.10:g.150545372C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala678Thr	rs771791389	missense variant	-	NC_000005.10:g.150545373G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala678Val	rs1466696341	missense variant	-	NC_000005.10:g.150545374C>T	gnomAD
NDST1	P52848	p.Ser683Leu	rs775049078	missense variant	-	NC_000005.10:g.150545389C>T	ExAC,gnomAD
NDST1	P52848	p.Val685Met	rs760214707	missense variant	-	NC_000005.10:g.150545394G>A	ExAC,gnomAD
NDST1	P52848	p.Ala686Val	rs544980003	missense variant	-	NC_000005.10:g.150545398C>T	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro687Leu	rs940152063	missense variant	-	NC_000005.10:g.150545401C>T	TOPMed
NDST1	P52848	p.Arg688Trp	rs762416903	missense variant	-	NC_000005.10:g.150545403C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg688Gln	rs564074121	missense variant	-	NC_000005.10:g.150545404G>A	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg689Gln	rs531473286	missense variant	-	NC_000005.10:g.150545407G>A	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg689Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150545407G>T	NCI-TCGA
NDST1	P52848	p.Ala692Gly	rs1282055557	missense variant	-	NC_000005.10:g.150545416C>G	gnomAD
NDST1	P52848	p.Lys696Glu	rs1264528397	missense variant	-	NC_000005.10:g.150545427A>G	TOPMed,gnomAD
NDST1	P52848	p.Ala697Val	rs766591981	missense variant	-	NC_000005.10:g.150545431C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Thr701Ser	rs141935011	missense variant	-	NC_000005.10:g.150545443C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Leu703Phe	rs1261074199	missense variant	-	NC_000005.10:g.150545448C>T	TOPMed,gnomAD
NDST1	P52848	p.Pro706Ser	rs1378305819	missense variant	-	NC_000005.10:g.150545457C>T	TOPMed
NDST1	P52848	p.Ala707Glu	rs138889348	missense variant	-	NC_000005.10:g.150545461C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala707Thr	rs962700674	missense variant	-	NC_000005.10:g.150545460G>A	TOPMed,gnomAD
NDST1	P52848	p.Ala707Val	rs138889348	missense variant	-	NC_000005.10:g.150545461C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asp708Asn	rs757210245	missense variant	-	NC_000005.10:g.150545463G>A	ExAC
NDST1	P52848	p.Arg709Trp	rs1007466823	missense variant	-	NC_000005.10:g.150545466C>T	TOPMed
NDST1	P52848	p.Arg709Gln	rs606231456	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150545467G>A	UniProt,dbSNP
NDST1	P52848	p.Arg709Gln	VAR_072649	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150545467G>A	UniProt
NDST1	P52848	p.Arg709Gln	rs606231456	missense variant	-	NC_000005.10:g.150545467G>A	-
NDST1	P52848	p.Arg709Gln	RCV000148925	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150545467G>A	ClinVar
NDST1	P52848	p.Ser712Tyr	rs375276768	missense variant	-	NC_000005.10:g.150545476C>A	ESP,ExAC,TOPMed
NDST1	P52848	p.His716Gln	rs754702511	missense variant	-	NC_000005.10:g.150548220C>A	ExAC,gnomAD
NDST1	P52848	p.Arg718Pro	rs780806591	missense variant	-	NC_000005.10:g.150548225G>C	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg718Ter	rs1302728109	stop gained	-	NC_000005.10:g.150548224C>T	TOPMed
NDST1	P52848	p.Arg718Gln	rs780806591	missense variant	-	NC_000005.10:g.150548225G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala719Val	rs747627702	missense variant	-	NC_000005.10:g.150548228C>T	ExAC,gnomAD
NDST1	P52848	p.Ala719Ser	rs1434554140	missense variant	-	NC_000005.10:g.150548227G>T	gnomAD
NDST1	P52848	p.Asp722Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150548236G>A	NCI-TCGA
NDST1	P52848	p.Ala725Thr	rs1394016276	missense variant	-	NC_000005.10:g.150548245G>A	gnomAD
NDST1	P52848	p.Leu726Gln	rs773752448	missense variant	-	NC_000005.10:g.150548249T>A	ExAC,gnomAD
NDST1	P52848	p.His731Arg	rs749826756	missense variant	-	NC_000005.10:g.150548264A>G	ExAC,gnomAD
NDST1	P52848	p.His731Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150548263C>T	NCI-TCGA
NDST1	P52848	p.Glu732Gly	rs1471025368	missense variant	-	NC_000005.10:g.150548267A>G	gnomAD
NDST1	P52848	p.Val733Leu	rs771259891	missense variant	-	NC_000005.10:g.150548269G>T	ExAC,gnomAD
NDST1	P52848	p.Thr735Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150548276C>A	NCI-TCGA
NDST1	P52848	p.Thr735Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150548275A>G	NCI-TCGA
NDST1	P52848	p.Ala736Ser	rs767696902	missense variant	-	NC_000005.10:g.150548278G>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala736Thr	rs767696902	missense variant	-	NC_000005.10:g.150548278G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gly737Ser	rs371359917	missense variant	-	NC_000005.10:g.150548281G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gly737Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150548281G>C	NCI-TCGA
NDST1	P52848	p.Gly737Val	COSM3661612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150548282G>T	NCI-TCGA Cosmic
NDST1	P52848	p.Ala740Thr	rs143628072	missense variant	-	NC_000005.10:g.150548290G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ser742Leu	rs977524041	missense variant	-	NC_000005.10:g.150548297C>T	TOPMed,gnomAD
NDST1	P52848	p.Leu744Pro	rs751428346	missense variant	-	NC_000005.10:g.150548303T>C	ExAC,gnomAD
NDST1	P52848	p.Arg745His	rs758149838	missense variant	-	NC_000005.10:g.150548306G>A	ExAC,gnomAD
NDST1	P52848	p.Arg745Cys	rs754857873	missense variant	-	NC_000005.10:g.150548305C>T	ExAC,gnomAD
NDST1	P52848	p.Arg745Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150548306G>C	NCI-TCGA
NDST1	P52848	p.Ala746Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150548308G>C	NCI-TCGA
NDST1	P52848	p.Leu747Phe	rs755645030	missense variant	-	NC_000005.10:g.150548311C>T	ExAC,gnomAD
NDST1	P52848	p.Leu747Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150548311C>A	NCI-TCGA
NDST1	P52848	p.Arg750His	rs141752622	missense variant	-	NC_000005.10:g.150548321G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg750Cys	rs749744290	missense variant	-	NC_000005.10:g.150548320C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gly755Ser	rs1189945452	missense variant	-	NC_000005.10:g.150548335G>A	gnomAD
NDST1	P52848	p.Gly755Asp	rs1415645880	missense variant	-	NC_000005.10:g.150548336G>A	gnomAD
NDST1	P52848	p.Trp756Leu	rs1230171926	missense variant	-	NC_000005.10:g.150548339G>T	TOPMed
NDST1	P52848	p.Ala758Thr	rs566952354	missense variant	-	NC_000005.10:g.150548344G>A	1000Genomes,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Thr759Ile	rs1421034335	missense variant	-	NC_000005.10:g.150548348C>T	gnomAD
NDST1	P52848	p.Ile761Val	rs772484379	missense variant	-	NC_000005.10:g.150548353A>G	ExAC,gnomAD
NDST1	P52848	p.Glu762Lys	rs775686138	missense variant	-	NC_000005.10:g.150548356G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg763Cys	rs1275710599	missense variant	-	NC_000005.10:g.150548359C>T	TOPMed
NDST1	P52848	p.Arg763His	rs140088577	missense variant	-	NC_000005.10:g.150548360G>A	ESP,TOPMed,gnomAD
NDST1	P52848	p.Ser766Gly	rs140325494	missense variant	-	NC_000005.10:g.150548368A>G	1000Genomes
NDST1	P52848	p.Tyr768Cys	rs1228238360	missense variant	-	NC_000005.10:g.150548375A>G	gnomAD
NDST1	P52848	p.His769Gln	rs768728267	missense variant	-	NC_000005.10:g.150548379C>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala770Gly	rs1214164781	missense variant	-	NC_000005.10:g.150548381C>G	gnomAD
NDST1	P52848	p.Ala770Thr	rs776599855	missense variant	-	NC_000005.10:g.150548380G>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asn771Ser	rs1405734782	missense variant	-	NC_000005.10:g.150548384A>G	TOPMed
NDST1	P52848	p.Asn771Lys	COSM4928900	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150548385C>A	NCI-TCGA Cosmic
NDST1	P52848	p.Asp777Val	rs1187449813	missense variant	-	NC_000005.10:g.150549691A>T	gnomAD
NDST1	P52848	p.Gly778Ser	rs1253233436	missense variant	-	NC_000005.10:g.150549693G>A	TOPMed,gnomAD
NDST1	P52848	p.Lys779Arg	rs768794426	missense variant	-	NC_000005.10:g.150549697A>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Leu780Val	rs776949087	missense variant	-	NC_000005.10:g.150549699C>G	ExAC,gnomAD
NDST1	P52848	p.Arg782Leu	rs747907538	missense variant	-	NC_000005.10:g.150549706G>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg782Cys	rs992170274	missense variant	-	NC_000005.10:g.150549705C>T	TOPMed,gnomAD
NDST1	P52848	p.Thr783Arg	rs1160775771	missense variant	-	NC_000005.10:g.150549709C>G	gnomAD
NDST1	P52848	p.Thr783Ala	rs770052718	missense variant	-	NC_000005.10:g.150549708A>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Lys787Gln	rs1383511933	missense variant	-	NC_000005.10:g.150549720A>C	gnomAD
NDST1	P52848	p.Val788Gly	rs774422073	missense variant	-	NC_000005.10:g.150549724T>G	ExAC,gnomAD
NDST1	P52848	p.Met791Ile	rs1373307979	missense variant	-	NC_000005.10:g.150549734G>A	gnomAD
NDST1	P52848	p.Met791Ile	rs1373307979	missense variant	-	NC_000005.10:g.150549734G>C	gnomAD
NDST1	P52848	p.Met791Val	rs771780923	missense variant	-	NC_000005.10:g.150549732A>G	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val798Ala	rs201854922	missense variant	-	NC_000005.10:g.150549754T>C	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Val798Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150549753G>T	NCI-TCGA
NDST1	P52848	p.Thr799Ala	rs987497760	missense variant	-	NC_000005.10:g.150549756A>G	gnomAD
NDST1	P52848	p.Asn800His	rs1204747968	missense variant	-	NC_000005.10:g.150549759A>C	TOPMed
NDST1	P52848	p.Thr801Ser	RCV000660550	missense variant	Mental retardation, autosomal recessive 46 (MRT46)	NC_000005.10:g.150549762A>T	ClinVar
NDST1	P52848	p.Thr801Ser	rs760333260	missense variant	-	NC_000005.10:g.150549762A>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Thr801Pro	rs760333260	missense variant	-	NC_000005.10:g.150549762A>C	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ile802Asn	rs146304238	missense variant	-	NC_000005.10:g.150549766T>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ile802Thr	rs146304238	missense variant	-	NC_000005.10:g.150549766T>C	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asp803Tyr	rs1370569502	missense variant	-	NC_000005.10:g.150549768G>T	gnomAD
NDST1	P52848	p.His805Asn	rs753586471	missense variant	-	NC_000005.10:g.150549774C>A	ExAC,gnomAD
NDST1	P52848	p.His805Tyr	rs753586471	missense variant	-	NC_000005.10:g.150549774C>T	ExAC,gnomAD
NDST1	P52848	p.Thr807Asn	rs756756360	missense variant	-	NC_000005.10:g.150549781C>A	ExAC,gnomAD
NDST1	P52848	p.Ala809Glu	rs201660056	missense variant	-	NC_000005.10:g.150549787C>A	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Ala809Val	rs201660056	missense variant	-	NC_000005.10:g.150549787C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Pro812Ser	rs555617163	missense variant	-	NC_000005.10:g.150551760C>T	1000Genomes
NDST1	P52848	p.Lys813Arg	rs1420708998	missense variant	-	NC_000005.10:g.150551764A>G	TOPMed,gnomAD
NDST1	P52848	p.Gly815Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.150551769G>T	NCI-TCGA
NDST1	P52848	p.Phe816Cys	rs573765554	missense variant	-	NC_000005.10:g.150551773T>G	1000Genomes,ExAC,gnomAD
NDST1	P52848	p.Phe816Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150551772T>C	NCI-TCGA
NDST1	P52848	p.Trp817Ter	rs1457946383	stop gained	-	NC_000005.10:g.150551777G>A	gnomAD
NDST1	P52848	p.Gln819His	rs764682491	missense variant	-	NC_000005.10:g.150551783A>C	ExAC,TOPMed
NDST1	P52848	p.Leu820Val	rs749969324	missense variant	-	NC_000005.10:g.150551784C>G	ExAC,gnomAD
NDST1	P52848	p.Leu829Pro	rs1398110364	missense variant	-	NC_000005.10:g.150551812T>C	TOPMed
NDST1	P52848	p.Ser832Asn	rs1172526096	missense variant	-	NC_000005.10:g.150551821G>A	TOPMed
NDST1	P52848	p.Arg835Gln	rs370921233	missense variant	-	NC_000005.10:g.150551830G>A	ESP,ExAC,gnomAD
NDST1	P52848	p.Arg835Trp	rs766771345	missense variant	-	NC_000005.10:g.150551829C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Lys836Glu	rs755289713	missense variant	-	NC_000005.10:g.150551832A>G	ExAC,gnomAD
NDST1	P52848	p.Pro838Ser	rs1177184617	missense variant	-	NC_000005.10:g.150551838C>T	gnomAD
NDST1	P52848	p.Glu839Asp	rs756426391	missense variant	-	NC_000005.10:g.150551843G>C	ExAC,gnomAD
NDST1	P52848	p.Glu839Lys	rs150060318	missense variant	-	NC_000005.10:g.150551841G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Asp841Asn	rs777958202	missense variant	-	NC_000005.10:g.150551847G>A	ExAC,gnomAD
NDST1	P52848	p.Ser844Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.150553213T>C	NCI-TCGA
NDST1	P52848	p.Arg845Gln	rs374008656	missense variant	-	NC_000005.10:g.150553217G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Phe847Leu	rs1007474057	missense variant	-	NC_000005.10:g.150553224C>G	TOPMed,gnomAD
NDST1	P52848	p.AspTyrTyr850AspTyrTerThrIleUnk	rs772694573	stop gained	-	NC_000005.10:g.150553231_150553238dup	ExAC,gnomAD
NDST1	P52848	p.Tyr851Cys	rs779064315	missense variant	-	NC_000005.10:g.150553235A>G	ExAC,gnomAD
NDST1	P52848	p.Arg853Gln	rs371747881	missense variant	-	NC_000005.10:g.150553241G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg853Trp	rs768673584	missense variant	-	NC_000005.10:g.150553240C>T	ExAC,gnomAD
NDST1	P52848	p.Arg853Gln	RCV000500065	missense variant	-	NC_000005.10:g.150553241G>A	ClinVar
NDST1	P52848	p.His855Pro	rs747918725	missense variant	-	NC_000005.10:g.150553247A>C	ExAC,gnomAD
NDST1	P52848	p.His855Arg	rs747918725	missense variant	-	NC_000005.10:g.150553247A>G	ExAC,gnomAD
NDST1	P52848	p.Asn856Ser	rs965472851	missense variant	-	NC_000005.10:g.150553250A>G	TOPMed,gnomAD
NDST1	P52848	p.Asn856Ile	COSM6169978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150553250A>T	NCI-TCGA Cosmic
NDST1	P52848	p.Glu858Lys	rs773934403	missense variant	-	NC_000005.10:g.150553255G>A	ExAC,gnomAD
NDST1	P52848	p.Ser860Cys	rs768035535	missense variant	-	NC_000005.10:g.150553262C>G	ExAC,gnomAD
NDST1	P52848	p.Tyr864Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.150553275T>G	NCI-TCGA
NDST1	P52848	p.Thr869Ile	rs764558998	missense variant	-	NC_000005.10:g.150553289C>T	ExAC,gnomAD
NDST1	P52848	p.Leu870Pro	COSM482354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150553292T>C	NCI-TCGA Cosmic
NDST1	P52848	p.Pro871Arg	rs757107830	missense variant	-	NC_000005.10:g.150553295C>G	ExAC,gnomAD
NDST1	P52848	p.Pro871Leu	rs757107830	missense variant	-	NC_000005.10:g.150553295C>T	ExAC,gnomAD
NDST1	P52848	p.Pro871Ser	COSM3827420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.150553294C>T	NCI-TCGA Cosmic
NDST1	P52848	p.Thr872Ile	rs757522372	missense variant	-	NC_000005.10:g.150553298C>T	ExAC,gnomAD
NDST1	P52848	p.Arg875Gln	rs372636224	missense variant	-	NC_000005.10:g.150553307G>A	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg875Ter	rs750489076	stop gained	-	NC_000005.10:g.150553306C>T	ExAC,TOPMed,gnomAD
NDST1	P52848	p.Arg875Leu	rs372636224	missense variant	-	NC_000005.10:g.150553307G>T	ESP,ExAC,TOPMed,gnomAD
NDST1	P52848	p.Gln879Leu	rs755838397	missense variant	-	NC_000005.10:g.150553319A>T	ExAC
NDST1	P52848	p.Asn880Ile	rs1235207739	missense variant	-	NC_000005.10:g.150553322A>T	TOPMed
NDST1	P52848	p.Asn880Tyr	rs1420741697	missense variant	-	NC_000005.10:g.150553321A>T	gnomAD
GBX2	P52951	p.Ser2Cys	rs760878054	missense variant	-	NC_000002.12:g.236167968T>A	ExAC,gnomAD
GBX2	P52951	p.Ala3Ser	rs1233337399	missense variant	-	NC_000002.12:g.236167965C>A	gnomAD
GBX2	P52951	p.Ala4Val	rs773136458	missense variant	-	NC_000002.12:g.236167961G>A	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Phe5Ile	rs1481931768	missense variant	-	NC_000002.12:g.236167959A>T	gnomAD
GBX2	P52951	p.Pro6Leu	rs1282288740	missense variant	-	NC_000002.12:g.236167955G>A	gnomAD
GBX2	P52951	p.Pro7Leu	rs1276073606	missense variant	-	NC_000002.12:g.236167952G>A	gnomAD
GBX2	P52951	p.Pro7Ser	rs1311191426	missense variant	-	NC_000002.12:g.236167953G>A	TOPMed,gnomAD
GBX2	P52951	p.Ser8Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236167949G>C	NCI-TCGA
GBX2	P52951	p.Ser8Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236167949G>A	NCI-TCGA
GBX2	P52951	p.Leu9Pro	rs1373461505	missense variant	-	NC_000002.12:g.236167946A>G	gnomAD
GBX2	P52951	p.Met10Ile	rs1199509489	missense variant	-	NC_000002.12:g.236167942C>T	TOPMed
GBX2	P52951	p.Met10Thr	rs772617387	missense variant	-	NC_000002.12:g.236167943A>G	ExAC,gnomAD
GBX2	P52951	p.Met10Leu	rs1483409479	missense variant	-	NC_000002.12:g.236167944T>G	TOPMed
GBX2	P52951	p.Met11Ile	rs1020353126	missense variant	-	NC_000002.12:g.236167939C>T	TOPMed,gnomAD
GBX2	P52951	p.Met11Thr	rs762260558	missense variant	-	NC_000002.12:g.236167940A>G	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Met12Thr	rs1179210968	missense variant	-	NC_000002.12:g.236167937A>G	TOPMed
GBX2	P52951	p.Gln13His	rs774729235	missense variant	-	NC_000002.12:g.236167933C>A	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Pro15Ser	rs549692179	missense variant	-	NC_000002.12:g.236167929G>A	1000Genomes,ExAC,gnomAD
GBX2	P52951	p.Pro15Leu	rs1379441211	missense variant	-	NC_000002.12:g.236167928G>A	TOPMed
GBX2	P52951	p.Gly17Ala	rs749602609	missense variant	-	NC_000002.12:g.236167922C>G	ExAC,gnomAD
GBX2	P52951	p.Gly17Glu	rs749602609	missense variant	-	NC_000002.12:g.236167922C>T	ExAC,gnomAD
GBX2	P52951	p.Ser18Arg	rs1181360817	missense variant	-	NC_000002.12:g.236167918A>C	TOPMed,gnomAD
GBX2	P52951	p.Ser18Thr	rs780962950	missense variant	-	NC_000002.12:g.236167919C>G	ExAC,gnomAD
GBX2	P52951	p.Ser18Cys	rs1402499219	missense variant	-	NC_000002.12:g.236167920T>A	gnomAD
GBX2	P52951	p.Ser19Gly	rs1302425906	missense variant	-	NC_000002.12:g.236167917T>C	TOPMed
GBX2	P52951	p.Ala21Thr	rs1404370210	missense variant	-	NC_000002.12:g.236167911C>T	TOPMed
GBX2	P52951	p.Ala21Asp	rs1449414111	missense variant	-	NC_000002.12:g.236167910G>T	TOPMed
GBX2	P52951	p.Phe22Leu	rs1332661624	missense variant	-	NC_000002.12:g.236167906G>C	TOPMed
GBX2	P52951	p.Ser23Cys	rs1376879250	missense variant	-	NC_000002.12:g.236167905T>A	TOPMed
GBX2	P52951	p.Ser23Asn	rs1259547428	missense variant	-	NC_000002.12:g.236167904C>T	gnomAD
GBX2	P52951	p.Ile24Thr	rs746575611	missense variant	-	NC_000002.12:g.236167901A>G	ExAC,gnomAD
GBX2	P52951	p.Asp25Glu	rs1235340969	missense variant	-	NC_000002.12:g.236167897G>C	gnomAD
GBX2	P52951	p.Gly29Arg	rs1217562638	missense variant	-	NC_000002.12:g.236167887C>G	gnomAD
GBX2	P52951	p.Gly29Cys	rs1217562638	missense variant	-	NC_000002.12:g.236167887C>A	gnomAD
GBX2	P52951	p.Gly29Asp	rs1316957163	missense variant	-	NC_000002.12:g.236167886C>T	gnomAD
GBX2	P52951	p.Ser30Arg	rs1267000455	missense variant	-	NC_000002.12:g.236167882G>C	gnomAD
GBX2	P52951	p.Pro32Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236167877G>T	NCI-TCGA
GBX2	P52951	p.Gln33Pro	rs758437445	missense variant	-	NC_000002.12:g.236167874T>G	ExAC,gnomAD
GBX2	P52951	p.Val40Asp	rs778868716	missense variant	-	NC_000002.12:g.236167853A>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Val40Ala	rs778868716	missense variant	-	NC_000002.12:g.236167853A>G	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Gly43Ser	rs753573351	missense variant	-	NC_000002.12:g.236167845C>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Gly43Arg	rs753573351	missense variant	-	NC_000002.12:g.236167845C>G	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Met46Leu	rs368609531	missense variant	-	NC_000002.12:g.236167836T>A	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Met46Val	rs368609531	missense variant	-	NC_000002.12:g.236167836T>C	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Pro49Ser	rs750539951	missense variant	-	NC_000002.12:g.236167827G>A	ExAC,gnomAD
GBX2	P52951	p.Arg51Gly	rs935440715	missense variant	-	NC_000002.12:g.236167821G>C	TOPMed,gnomAD
GBX2	P52951	p.Arg51Gln	rs902082239	missense variant	-	NC_000002.12:g.236167820C>T	TOPMed,gnomAD
GBX2	P52951	p.Pro56Leu	rs1253868113	missense variant	-	NC_000002.12:g.236167805G>A	gnomAD
GBX2	P52951	p.Pro60Leu	rs767545495	missense variant	-	NC_000002.12:g.236167793G>A	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Pro61Thr	rs1427403780	missense variant	-	NC_000002.12:g.236167791G>T	TOPMed
GBX2	P52951	p.Pro63Ser	rs1247035538	missense variant	-	NC_000002.12:g.236167785G>A	gnomAD
GBX2	P52951	p.Gln67His	rs774894969	missense variant	-	NC_000002.12:g.236167771C>G	ExAC,gnomAD
GBX2	P52951	p.Ala69Ser	rs200404399	missense variant	-	NC_000002.12:g.236167767C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Pro72Leu	rs775693383	missense variant	-	NC_000002.12:g.236167757G>A	ExAC,gnomAD
GBX2	P52951	p.Ala73Glu	rs770636546	missense variant	-	NC_000002.12:g.236167754G>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Pro75Leu	rs911938698	missense variant	-	NC_000002.12:g.236167748G>A	-
GBX2	P52951	p.Pro76Leu	rs1355650612	missense variant	-	NC_000002.12:g.236167745G>A	TOPMed,gnomAD
GBX2	P52951	p.Ala77Thr	rs1432932888	missense variant	-	NC_000002.12:g.236167743C>T	gnomAD
GBX2	P52951	p.Ala77Gly	rs1396849040	missense variant	-	NC_000002.12:g.236167742G>C	TOPMed,gnomAD
GBX2	P52951	p.His78Gln	rs987643540	missense variant	-	NC_000002.12:g.236167738G>T	TOPMed,gnomAD
GBX2	P52951	p.His78Tyr	rs777423025	missense variant	-	NC_000002.12:g.236167740G>A	ExAC,gnomAD
GBX2	P52951	p.Ile83Val	rs1172178753	missense variant	-	NC_000002.12:g.236167725T>C	gnomAD
GBX2	P52951	p.Ile83Thr	rs1428927301	missense variant	-	NC_000002.12:g.236167724A>G	TOPMed,gnomAD
GBX2	P52951	p.Ile83Met	rs1389114331	missense variant	-	NC_000002.12:g.236167723G>C	gnomAD
GBX2	P52951	p.Pro84Ser	rs771654915	missense variant	-	NC_000002.12:g.236167722G>A	ExAC,gnomAD
GBX2	P52951	p.Ser85Cys	rs1408530437	missense variant	-	NC_000002.12:g.236167719T>A	TOPMed
GBX2	P52951	p.Leu86Val	rs779063164	missense variant	-	NC_000002.12:g.236167716G>C	ExAC,gnomAD
GBX2	P52951	p.Leu86Pro	rs1210943297	missense variant	-	NC_000002.12:g.236167715A>G	gnomAD
GBX2	P52951	p.Pro87Ser	rs1167553473	missense variant	-	NC_000002.12:g.236167713G>A	TOPMed
GBX2	P52951	p.Thr88Lys	rs1488408570	missense variant	-	NC_000002.12:g.236167709G>T	gnomAD
GBX2	P52951	p.Gly89Asp	COSM3579502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236167706C>T	NCI-TCGA Cosmic
GBX2	P52951	p.Cys91Gly	rs754843031	missense variant	-	NC_000002.12:g.236167701A>C	ExAC,gnomAD
GBX2	P52951	p.Ala95Val	rs753718265	missense variant	-	NC_000002.12:g.236167688G>A	ExAC,gnomAD
GBX2	P52951	p.Ala95Glu	rs753718265	missense variant	-	NC_000002.12:g.236167688G>T	ExAC,gnomAD
GBX2	P52951	p.Gln96Arg	rs779666496	missense variant	-	NC_000002.12:g.236167685T>C	ExAC,gnomAD
GBX2	P52951	p.Ala99Val	rs1226523241	missense variant	-	NC_000002.12:g.236167676G>A	gnomAD
GBX2	P52951	p.Ala99Thr	COSM4686580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236167677C>T	NCI-TCGA Cosmic
GBX2	P52951	p.Leu100HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.236167672_236167673GA>-	NCI-TCGA
GBX2	P52951	p.Thr103Ala	rs1386285435	missense variant	-	NC_000002.12:g.236167665T>C	gnomAD
GBX2	P52951	p.Thr103Met	rs1388433042	missense variant	-	NC_000002.12:g.236167664G>A	gnomAD
GBX2	P52951	p.Met105Thr	rs750545044	missense variant	-	NC_000002.12:g.236167658A>G	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Met105Ile	rs767713130	missense variant	-	NC_000002.12:g.236167657C>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Pro109His	rs1395323232	missense variant	-	NC_000002.12:g.236167646G>T	gnomAD
GBX2	P52951	p.Pro109Ser	rs1455352279	missense variant	-	NC_000002.12:g.236167647G>A	gnomAD
GBX2	P52951	p.Gly110Val	rs368198659	missense variant	-	NC_000002.12:g.236167643C>A	ESP,TOPMed
GBX2	P52951	p.Phe112Leu	rs764631873	missense variant	-	NC_000002.12:g.236167638A>G	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ser115Leu	rs763316927	missense variant	-	NC_000002.12:g.236167628G>A	ExAC,gnomAD
GBX2	P52951	p.Pro116Ser	rs775950533	missense variant	-	NC_000002.12:g.236167626G>A	ExAC,gnomAD
GBX2	P52951	p.Gln117His	rs760392642	missense variant	-	NC_000002.12:g.236167621C>A	ExAC,gnomAD
GBX2	P52951	p.Gln117Ter	rs1203272949	stop gained	-	NC_000002.12:g.236167623G>A	gnomAD
GBX2	P52951	p.Gln117His	rs760392642	missense variant	-	NC_000002.12:g.236167621C>G	ExAC,gnomAD
GBX2	P52951	p.Glu120Asp	rs79285591	missense variant	-	NC_000002.12:g.236167612C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala121Thr	rs771849184	missense variant	-	NC_000002.12:g.236167611C>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala122Thr	rs747702977	missense variant	-	NC_000002.12:g.236167608C>T	ExAC,gnomAD
GBX2	P52951	p.Ala122Val	rs1410427695	missense variant	-	NC_000002.12:g.236167607G>A	gnomAD
GBX2	P52951	p.Ala123Thr	rs773978508	missense variant	-	NC_000002.12:g.236167605C>T	ExAC,gnomAD
GBX2	P52951	p.Arg125Gly	rs1402423343	missense variant	-	NC_000002.12:g.236167599G>C	TOPMed,gnomAD
GBX2	P52951	p.Arg125Leu	rs1290304096	missense variant	-	NC_000002.12:g.236167598C>A	TOPMed
GBX2	P52951	p.Gln130Pro	rs749140948	missense variant	-	NC_000002.12:g.236167583T>G	ExAC,TOPMed
GBX2	P52951	p.Pro131Ser	rs779903271	missense variant	-	NC_000002.12:g.236167581G>A	ExAC,gnomAD
GBX2	P52951	p.Gly134Cys	rs781431098	missense variant	-	NC_000002.12:g.236167572C>A	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Gly135Val	rs201041634	missense variant	-	NC_000002.12:g.236167568C>A	1000Genomes,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Gly135Ser	rs757446664	missense variant	-	NC_000002.12:g.236167569C>T	ExAC,gnomAD
GBX2	P52951	p.Gly136Arg	rs183456996	missense variant	-	NC_000002.12:g.236167566C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Phe138Leu	rs765764887	missense variant	-	NC_000002.12:g.236167558G>C	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Phe138Leu	rs765764887	missense variant	-	NC_000002.12:g.236167558G>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Asp139Asn	rs532488227	missense variant	-	NC_000002.12:g.236167557C>T	TOPMed,gnomAD
GBX2	P52951	p.Asp139Tyr	rs532488227	missense variant	-	NC_000002.12:g.236167557C>A	TOPMed,gnomAD
GBX2	P52951	p.Lys140Asn	rs777107943	missense variant	-	NC_000002.12:g.236167552C>G	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Lys140Thr	rs1286414760	missense variant	-	NC_000002.12:g.236167553T>G	TOPMed,gnomAD
GBX2	P52951	p.Ala141Val	rs149869981	missense variant	-	NC_000002.12:g.236167550G>A	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala141Glu	rs149869981	missense variant	-	NC_000002.12:g.236167550G>T	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala143Thr	rs774031211	missense variant	-	NC_000002.12:g.236167545C>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala143Glu	rs767984966	missense variant	-	NC_000002.12:g.236167544G>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala143Val	rs767984966	missense variant	-	NC_000002.12:g.236167544G>A	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala146Pro	rs775356080	missense variant	-	NC_000002.12:g.236167536C>G	ExAC,gnomAD
GBX2	P52951	p.Asp150Asn	rs769739341	missense variant	-	NC_000002.12:g.236167524C>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Gly151Cys	rs1411805510	missense variant	-	NC_000002.12:g.236167521C>A	gnomAD
GBX2	P52951	p.Gly151Asp	rs561631097	missense variant	-	NC_000002.12:g.236167520C>T	1000Genomes,ExAC,gnomAD
GBX2	P52951	p.Lys152Glu	rs780914439	missense variant	-	NC_000002.12:g.236167518T>C	ExAC,gnomAD
GBX2	P52951	p.Gly153Ala	rs747164133	missense variant	-	NC_000002.12:g.236167514C>G	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Gly153Asp	rs747164133	missense variant	-	NC_000002.12:g.236167514C>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Gly153Val	rs747164133	missense variant	-	NC_000002.12:g.236167514C>A	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Leu155Arg	rs1355971926	missense variant	-	NC_000002.12:g.236167508A>C	TOPMed
GBX2	P52951	p.Ala156Asp	rs758468823	missense variant	-	NC_000002.12:g.236167505G>T	ExAC,gnomAD
GBX2	P52951	p.Glu158Gly	rs1264127873	missense variant	-	NC_000002.12:g.236167499T>C	gnomAD
GBX2	P52951	p.Ser160Pro	rs1040586774	missense variant	-	NC_000002.12:g.236167494A>G	TOPMed
GBX2	P52951	p.Leu162Phe	rs1445562651	missense variant	-	NC_000002.12:g.236167488G>A	TOPMed
GBX2	P52951	p.Ala163Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236167485C>T	NCI-TCGA
GBX2	P52951	p.Ala166Thr	rs752822897	missense variant	-	NC_000002.12:g.236167476C>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Glu168Lys	rs1464511371	missense variant	-	NC_000002.12:g.236167470C>T	gnomAD
GBX2	P52951	p.Thr169Met	rs886602875	missense variant	-	NC_000002.12:g.236167466G>A	TOPMed,gnomAD
GBX2	P52951	p.Val170Leu	rs1400140073	missense variant	-	NC_000002.12:g.236167464C>G	TOPMed,gnomAD
GBX2	P52951	p.Gln171Arg	rs377437929	missense variant	-	NC_000002.12:g.236167460T>C	ESP,TOPMed,gnomAD
GBX2	P52951	p.Gln171Glu	rs1320833304	missense variant	-	NC_000002.12:g.236167461G>C	gnomAD
GBX2	P52951	p.Gln171His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236167459C>A	NCI-TCGA
GBX2	P52951	p.Ser173Leu	rs1415881160	missense variant	-	NC_000002.12:g.236167454G>A	TOPMed
GBX2	P52951	p.Val175Phe	rs1162967845	missense variant	-	NC_000002.12:g.236167449C>A	TOPMed,gnomAD
GBX2	P52951	p.Gly176Trp	rs1415780615	missense variant	-	NC_000002.12:g.236166435C>A	gnomAD
GBX2	P52951	p.Val178Ala	rs1482692780	missense variant	-	NC_000002.12:g.236166428A>G	gnomAD
GBX2	P52951	p.Gly180Arg	rs780745297	missense variant	-	NC_000002.12:g.236166423C>T	ExAC,gnomAD
GBX2	P52951	p.Gly182Arg	rs1045017434	missense variant	-	NC_000002.12:g.236166417C>G	TOPMed,gnomAD
GBX2	P52951	p.Gly182Arg	rs1045017434	missense variant	-	NC_000002.12:g.236166417C>T	TOPMed,gnomAD
GBX2	P52951	p.Ser186Pro	rs746239279	missense variant	-	NC_000002.12:g.236166405A>G	ExAC,gnomAD
GBX2	P52951	p.Lys187Asn	COSM1018252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166400C>A	NCI-TCGA Cosmic
GBX2	P52951	p.Lys187Asn	rs1228389880	missense variant	-	NC_000002.12:g.236166400C>G	gnomAD
GBX2	P52951	p.Val188Met	rs1351683404	missense variant	-	NC_000002.12:g.236166399C>T	TOPMed,gnomAD
GBX2	P52951	p.Pro192Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166386G>A	NCI-TCGA
GBX2	P52951	p.Gly194Asp	rs752334404	missense variant	-	NC_000002.12:g.236166380C>T	ExAC,gnomAD
GBX2	P52951	p.Gly194Ser	rs1362186557	missense variant	-	NC_000002.12:g.236166381C>T	TOPMed
GBX2	P52951	p.Lys195Glu	rs764852601	missense variant	-	NC_000002.12:g.236166378T>C	ExAC,gnomAD
GBX2	P52951	p.Glu196Gly	rs753318838	missense variant	-	NC_000002.12:g.236166374T>C	ExAC,gnomAD
GBX2	P52951	p.Glu196Ala	rs753318838	missense variant	-	NC_000002.12:g.236166374T>G	ExAC,gnomAD
GBX2	P52951	p.Glu197Lys	rs924320246	missense variant	-	NC_000002.12:g.236166372C>T	-
GBX2	P52951	p.Ser200Pro	rs148159384	missense variant	-	NC_000002.12:g.236166363A>G	ESP,ExAC,gnomAD
GBX2	P52951	p.Asp204Asn	rs1489758659	missense variant	-	NC_000002.12:g.236166351C>T	TOPMed
GBX2	P52951	p.Val205Ala	rs986640279	missense variant	-	NC_000002.12:g.236166347A>G	TOPMed
GBX2	P52951	p.Ser208Arg	rs1351561443	missense variant	-	NC_000002.12:g.236166337G>C	gnomAD
GBX2	P52951	p.Ser209Pro	rs761956735	missense variant	-	NC_000002.12:g.236166336A>G	ExAC,gnomAD
GBX2	P52951	p.Ser209Leu	rs774692890	missense variant	-	NC_000002.12:g.236166335G>A	ExAC
GBX2	P52951	p.Asn212His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166327T>G	NCI-TCGA
GBX2	P52951	p.Thr214Asn	rs1190170059	missense variant	-	NC_000002.12:g.236166320G>T	gnomAD
GBX2	P52951	p.Thr214Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166321T>C	NCI-TCGA
GBX2	P52951	p.Gly215Asp	rs749427581	missense variant	-	NC_000002.12:g.236166317C>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Gly215Ser	rs1190972736	missense variant	-	NC_000002.12:g.236166318C>T	TOPMed
GBX2	P52951	p.Gln216Arg	rs921209289	missense variant	-	NC_000002.12:g.236166314T>C	TOPMed
GBX2	P52951	p.Ala218Gly	rs1485139387	missense variant	-	NC_000002.12:g.236166308G>C	gnomAD
GBX2	P52951	p.His219Tyr	rs1384677744	missense variant	-	NC_000002.12:g.236166306G>A	TOPMed
GBX2	P52951	p.Glu222Ala	rs143663937	missense variant	-	NC_000002.12:g.236166296T>G	ESP,ExAC,gnomAD
GBX2	P52951	p.Glu222Asp	rs746318204	missense variant	-	NC_000002.12:g.236166295T>G	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Pro224Thr	rs781421148	missense variant	-	NC_000002.12:g.236166291G>T	ExAC,gnomAD
GBX2	P52951	p.Pro224Gln	rs757696070	missense variant	-	NC_000002.12:g.236166290G>T	ExAC,gnomAD
GBX2	P52951	p.Gly225Val	COSM4092603	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166287C>A	NCI-TCGA Cosmic
GBX2	P52951	p.His226Gln	rs1230975400	missense variant	-	NC_000002.12:g.236166283G>T	TOPMed,gnomAD
GBX2	P52951	p.Ala227Thr	rs778580912	missense variant	-	NC_000002.12:g.236166282C>T	ExAC,gnomAD
GBX2	P52951	p.Glu229Lys	rs202152349	missense variant	-	NC_000002.12:g.236166276C>T	1000Genomes,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Glu229Gln	rs202152349	missense variant	-	NC_000002.12:g.236166276C>G	1000Genomes,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Pro232Gln	rs1294069868	missense variant	-	NC_000002.12:g.236166266G>T	TOPMed,gnomAD
GBX2	P52951	p.Pro232Arg	rs1294069868	missense variant	-	NC_000002.12:g.236166266G>C	TOPMed,gnomAD
GBX2	P52951	p.Ser234Thr	rs373486610	missense variant	-	NC_000002.12:g.236166260C>G	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ser235Arg	rs113681406	missense variant	-	NC_000002.12:g.236166256G>T	gnomAD
GBX2	P52951	p.Ser235Asn	rs767344478	missense variant	-	NC_000002.12:g.236166257C>T	ExAC,gnomAD
GBX2	P52951	p.Gly236Cys	rs1389171569	missense variant	-	NC_000002.12:g.236166255C>A	gnomAD
GBX2	P52951	p.Gly236Ser	rs1389171569	missense variant	-	NC_000002.12:g.236166255C>T	gnomAD
GBX2	P52951	p.Ala237Thr	rs201674356	missense variant	-	NC_000002.12:g.236166252C>T	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala237Val	rs764433841	missense variant	-	NC_000002.12:g.236166251G>A	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala237Pro	rs201674356	missense variant	-	NC_000002.12:g.236166252C>G	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala238Val	rs763225082	missense variant	-	NC_000002.12:g.236166248G>A	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala238Thr	rs1356567525	missense variant	-	NC_000002.12:g.236166249C>T	TOPMed
GBX2	P52951	p.Ala238Gly	rs763225082	missense variant	-	NC_000002.12:g.236166248G>C	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ser240Asn	rs1349464821	missense variant	-	NC_000002.12:g.236166242C>T	TOPMed
GBX2	P52951	p.Thr242Lys	rs769851621	missense variant	-	NC_000002.12:g.236166236G>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ser243Cys	rs745919266	missense variant	-	NC_000002.12:g.236166233G>C	ExAC,gnomAD
GBX2	P52951	p.Thr244Met	rs200791522	missense variant	-	NC_000002.12:g.236166230G>A	1000Genomes,gnomAD
GBX2	P52951	p.Gly245Ser	rs1314058386	missense variant	-	NC_000002.12:g.236166228C>T	gnomAD
GBX2	P52951	p.Lys246Arg	rs771308424	missense variant	-	NC_000002.12:g.236166224T>C	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Arg249Trp	rs747458810	missense variant	-	NC_000002.12:g.236166216G>A	ExAC,gnomAD
GBX2	P52951	p.Arg250Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166213G>A	NCI-TCGA
GBX2	P52951	p.Arg251Trp	rs1410235422	missense variant	-	NC_000002.12:g.236166210G>A	gnomAD
GBX2	P52951	p.Arg251Leu	rs1369515441	missense variant	-	NC_000002.12:g.236166209C>A	gnomAD
GBX2	P52951	p.Phe254Leu	COSM3798783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166199G>T	NCI-TCGA Cosmic
GBX2	P52951	p.Glu257Lys	rs1467112182	missense variant	-	NC_000002.12:g.236166192C>T	gnomAD
GBX2	P52951	p.Gln258His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166187C>A	NCI-TCGA
GBX2	P52951	p.Leu259Val	COSM1326316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166186G>C	NCI-TCGA Cosmic
GBX2	P52951	p.Leu260Val	rs988304642	missense variant	-	NC_000002.12:g.236166183G>C	TOPMed
GBX2	P52951	p.Glu261Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166180C>G	NCI-TCGA
GBX2	P52951	p.Glu263Asp	COSM1018251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166172C>A	NCI-TCGA Cosmic
GBX2	P52951	p.Glu265Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166168C>G	NCI-TCGA
GBX2	P52951	p.Phe266Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166163G>C	NCI-TCGA
GBX2	P52951	p.Glu276Gln	rs866290647	missense variant	-	NC_000002.12:g.236166135C>G	TOPMed
GBX2	P52951	p.Glu276Gly	rs755708214	missense variant	-	NC_000002.12:g.236166134T>C	ExAC,gnomAD
GBX2	P52951	p.Glu276Lys	rs866290647	missense variant	-	NC_000002.12:g.236166135C>T	TOPMed
GBX2	P52951	p.Arg277Cys	rs749898317	missense variant	-	NC_000002.12:g.236166132G>A	ExAC,gnomAD
GBX2	P52951	p.Gln279Glu	rs757092821	missense variant	-	NC_000002.12:g.236166126G>C	ExAC,gnomAD
GBX2	P52951	p.Gln279His	rs1470596216	missense variant	-	NC_000002.12:g.236166124C>G	TOPMed
GBX2	P52951	p.Ile280Val	rs1256598505	missense variant	-	NC_000002.12:g.236166123T>C	gnomAD
GBX2	P52951	p.Ala281Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166119G>A	NCI-TCGA
GBX2	P52951	p.Ala281Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166120C>T	NCI-TCGA
GBX2	P52951	p.His282Gln	rs1290173786	missense variant	-	NC_000002.12:g.236166115G>T	gnomAD
GBX2	P52951	p.His282Arg	rs751429932	missense variant	-	NC_000002.12:g.236166116T>C	ExAC,gnomAD
GBX2	P52951	p.Ala283Thr	COSM1195494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166114C>T	NCI-TCGA Cosmic
GBX2	P52951	p.Ala283Ser	rs1228748450	missense variant	-	NC_000002.12:g.236166114C>A	gnomAD
GBX2	P52951	p.Lys285Arg	rs763280325	missense variant	-	NC_000002.12:g.236166107T>C	ExAC,gnomAD
GBX2	P52951	p.Lys285Glu	COSM1018249	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166108T>C	NCI-TCGA Cosmic
GBX2	P52951	p.Lys285Gln	rs537846896	missense variant	-	NC_000002.12:g.236166108T>G	1000Genomes,ExAC,gnomAD
GBX2	P52951	p.Ser287Arg	rs369589992	missense variant	-	NC_000002.12:g.236166100G>C	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ser287Cys	rs1402475845	missense variant	-	NC_000002.12:g.236166102T>A	gnomAD
GBX2	P52951	p.Glu288Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.236166099C>A	NCI-TCGA
GBX2	P52951	p.Val291Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166090C>A	NCI-TCGA
GBX2	P52951	p.Phe295Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166077A>G	NCI-TCGA
GBX2	P52951	p.Arg298Ter	COSM1406510	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.236166069G>A	NCI-TCGA Cosmic
GBX2	P52951	p.Val305Met	rs1473108262	missense variant	-	NC_000002.12:g.236166048C>T	TOPMed,gnomAD
GBX2	P52951	p.Val305Gly	rs1307055131	missense variant	-	NC_000002.12:g.236166047A>C	TOPMed
GBX2	P52951	p.Ala310Asp	rs1444288072	missense variant	-	NC_000002.12:g.236166032G>T	gnomAD
GBX2	P52951	p.Ala310Thr	rs773575219	missense variant	-	NC_000002.12:g.236166033C>T	ExAC,gnomAD
GBX2	P52951	p.Asn311Ser	rs772366640	missense variant	-	NC_000002.12:g.236166029T>C	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Asn311Lys	rs1417677499	missense variant	-	NC_000002.12:g.236166028A>C	gnomAD
GBX2	P52951	p.Ser312Phe	COSM3579501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166026G>A	NCI-TCGA Cosmic
GBX2	P52951	p.Thr314Ser	rs1379451572	missense variant	-	NC_000002.12:g.236166021T>A	TOPMed,gnomAD
GBX2	P52951	p.Gly315Arg	rs1054534852	missense variant	-	NC_000002.12:g.236166018C>T	-
GBX2	P52951	p.Gly315Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166017C>T	NCI-TCGA
GBX2	P52951	p.Glu316Lys	COSM4828539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166015C>T	NCI-TCGA Cosmic
GBX2	P52951	p.Glu316Asp	COSM1018248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166013C>A	NCI-TCGA Cosmic
GBX2	P52951	p.Glu316Asp	rs1269921440	missense variant	-	NC_000002.12:g.236166013C>G	TOPMed,gnomAD
GBX2	P52951	p.Pro317His	COSM6090925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236166011G>T	NCI-TCGA Cosmic
GBX2	P52951	p.Arg319Gly	rs1209344841	missense variant	-	NC_000002.12:g.236166006G>C	TOPMed,gnomAD
GBX2	P52951	p.Arg319Gln	rs1481565243	missense variant	-	NC_000002.12:g.236166005C>T	TOPMed
GBX2	P52951	p.Asn320Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236166001G>T	NCI-TCGA
GBX2	P52951	p.Pro321His	rs374921067	missense variant	-	NC_000002.12:g.236165999G>T	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Val325Ile	rs61743573	missense variant	-	NC_000002.12:g.236165988C>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.His330Asn	COSM1018247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.236165973G>T	NCI-TCGA Cosmic
GBX2	P52951	p.Ser332Arg	rs780526790	missense variant	-	NC_000002.12:g.236165965G>C	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Arg333Ser	rs757223307	missense variant	-	NC_000002.12:g.236165962C>A	ExAC,gnomAD
GBX2	P52951	p.Phe334Ile	rs1357976813	missense variant	-	NC_000002.12:g.236165961A>T	TOPMed
GBX2	P52951	p.Ala335Thr	rs1323118245	missense variant	-	NC_000002.12:g.236165958C>T	gnomAD
GBX2	P52951	p.Ala335Val	rs777837387	missense variant	-	NC_000002.12:g.236165957G>A	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Ala335Asp	rs777837387	missense variant	-	NC_000002.12:g.236165957G>T	ExAC,TOPMed,gnomAD
GBX2	P52951	p.His340Gln	rs758330836	missense variant	-	NC_000002.12:g.236165941A>C	ExAC,gnomAD
GBX2	P52951	p.His340Tyr	rs1384893315	missense variant	-	NC_000002.12:g.236165943G>A	gnomAD
GBX2	P52951	p.His340Pro	rs1298315920	missense variant	-	NC_000002.12:g.236165942T>G	TOPMed
GBX2	P52951	p.Gln342Glu	rs1473997947	missense variant	-	NC_000002.12:g.236165937G>C	TOPMed,gnomAD
GBX2	P52951	p.Glu344Asp	rs752507301	missense variant	-	NC_000002.12:g.236165929T>G	ExAC,TOPMed,gnomAD
GBX2	P52951	p.Gln345Lys	rs1183275622	missense variant	-	NC_000002.12:g.236165928G>T	gnomAD
GBX2	P52951	p.Ala346Asp	rs1442842489	missense variant	-	NC_000002.12:g.236165924G>T	gnomAD
GBX2	P52951	p.Arg347Gln	rs371453117	missense variant	-	NC_000002.12:g.236165921C>T	ESP,ExAC,TOPMed,gnomAD
GBX2	P52951	p.Pro348His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.236165918G>T	NCI-TCGA
COL4A4	P53420	p.Trp2Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227147478C>T	NCI-TCGA
COL4A4	P53420	p.Trp2Cys	rs1382380215	missense variant	-	NC_000002.12:g.227147478C>A	gnomAD
COL4A4	P53420	p.Ser3Phe	rs201403066	missense variant	-	NC_000002.12:g.227147476G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ser3Thr	rs755957159	missense variant	-	NC_000002.12:g.227147477A>T	ExAC,gnomAD
COL4A4	P53420	p.Leu4Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227147473A>G	NCI-TCGA
COL4A4	P53420	p.His5Asn	rs1212871805	missense variant	-	NC_000002.12:g.227147471G>T	gnomAD
COL4A4	P53420	p.His5Arg	rs1441153596	missense variant	-	NC_000002.12:g.227147470T>C	gnomAD
COL4A4	P53420	p.Ile6Thr	RCV000286526	missense variant	Alport syndrome	NC_000002.12:g.227147467A>G	ClinVar
COL4A4	P53420	p.Ile6Thr	RCV000248898	missense variant	-	NC_000002.12:g.227147467A>G	ClinVar
COL4A4	P53420	p.Ile6Thr	RCV000710833	missense variant	-	NC_000002.12:g.227147467A>G	ClinVar
COL4A4	P53420	p.Ile6Thr	rs16823264	missense variant	-	NC_000002.12:g.227147467A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ile6Thr	rs16823264	missense variant	-	NC_000002.12:g.227147467A>G	UniProt,dbSNP
COL4A4	P53420	p.Ile6Thr	VAR_031622	missense variant	-	NC_000002.12:g.227147467A>G	UniProt
COL4A4	P53420	p.Ile6Leu	rs763492958	missense variant	-	NC_000002.12:g.227147468T>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ile6Val	rs763492958	missense variant	-	NC_000002.12:g.227147468T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val7Glu	rs1310995837	missense variant	-	NC_000002.12:g.227147464A>T	gnomAD
COL4A4	P53420	p.Met9Ile	COSM3578449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227147457C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Met9Val	rs775856971	missense variant	-	NC_000002.12:g.227147459T>C	ExAC,gnomAD
COL4A4	P53420	p.Met9Lys	rs1440047357	missense variant	-	NC_000002.12:g.227147458A>T	TOPMed
COL4A4	P53420	p.Arg10Lys	rs1284205772	missense variant	-	NC_000002.12:g.227147455C>T	gnomAD
COL4A4	P53420	p.Cys11Phe	rs770345405	missense variant	-	NC_000002.12:g.227147452C>A	ExAC,gnomAD
COL4A4	P53420	p.Arg14Ile	rs771093210	missense variant	-	NC_000002.12:g.227147443C>A	NCI-TCGA
COL4A4	P53420	p.Arg14Gly	rs777010630	missense variant	-	NC_000002.12:g.227147444T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg14Ile	rs771093210	missense variant	-	NC_000002.12:g.227147443C>A	ExAC
COL4A4	P53420	p.Lys17Arg	RCV000480643	missense variant	-	NC_000002.12:g.227147434T>C	ClinVar
COL4A4	P53420	p.Lys17Arg	rs114969026	missense variant	-	NC_000002.12:g.227147434T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ser18Phe	rs1472124369	missense variant	-	NC_000002.12:g.227147431G>A	gnomAD
COL4A4	P53420	p.Leu19Trp	rs1237383434	missense variant	-	NC_000002.12:g.227147428A>C	gnomAD
COL4A4	P53420	p.Thr21Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227147422G>C	NCI-TCGA
COL4A4	P53420	p.Gly22Asp	COSM4911613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227147419C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly22Ser	rs779795137	missense variant	-	NC_000002.12:g.227147420C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro23Ser	rs756127918	missense variant	-	NC_000002.12:g.227147417G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro23Thr	rs756127918	missense variant	-	NC_000002.12:g.227147417G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro23His	rs1284248647	missense variant	-	NC_000002.12:g.227147416G>T	gnomAD
COL4A4	P53420	p.Trp24Ter	RCV000670484	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227147413C>T	ClinVar
COL4A4	P53420	p.Trp24Ter	rs1201925443	stop gained	-	NC_000002.12:g.227147413C>T	TOPMed
COL4A4	P53420	p.Trp24Leu	rs1201925443	missense variant	-	NC_000002.12:g.227147413C>A	TOPMed
COL4A4	P53420	p.Ser25Leu	rs370486963	missense variant	-	NC_000002.12:g.227144556G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu30Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227144541A>C	NCI-TCGA
COL4A4	P53420	p.Leu30Phe	rs758174051	missense variant	-	NC_000002.12:g.227144542G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Phe31Ser	rs754455472	missense variant	-	NC_000002.12:g.227144538A>G	ExAC,gnomAD
COL4A4	P53420	p.Ser32Phe	rs377568944	missense variant	-	NC_000002.12:g.227144535G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln34His	COSM720445	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227144528T>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Gln34Lys	rs753355705	missense variant	-	NC_000002.12:g.227144530G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Tyr35Ter	rs756672670	stop gained	-	NC_000002.12:g.227144525A>C	ExAC,gnomAD
COL4A4	P53420	p.Val36Ile	rs1272885382	missense variant	-	NC_000002.12:g.227144524C>T	TOPMed
COL4A4	P53420	p.Val36Ala	rs1311865804	missense variant	-	NC_000002.12:g.227144523A>G	gnomAD
COL4A4	P53420	p.Tyr37Cys	rs750707504	missense variant	-	NC_000002.12:g.227144520T>C	ExAC,gnomAD
COL4A4	P53420	p.Gly40Val	COSM6157233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140234C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly40Glu	rs370128179	missense variant	-	NC_000002.12:g.227140234C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Lys41Asn	rs1162611784	missense variant	-	NC_000002.12:g.227140230C>G	gnomAD
COL4A4	P53420	p.Lys42Thr	COSM3426158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140228T>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Ile44Thr	rs924312880	missense variant	-	NC_000002.12:g.227140222A>G	TOPMed
COL4A4	P53420	p.Gly45Arg	rs753016038	missense variant	-	NC_000002.12:g.227140220C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly45Cys	rs753016038	missense variant	-	NC_000002.12:g.227140220C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro46Ser	COSM3578448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140217G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro46Thr	rs374836502	missense variant	-	NC_000002.12:g.227140217G>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly48Ala	COSM6090718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140210C>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly49Glu	COSM3578447	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140207C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg50Ile	COSM6090719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140204C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg50Gly	COSM4396572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227140205T>C	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg50Thr	rs1261294446	missense variant	-	NC_000002.12:g.227140204C>G	gnomAD
COL4A4	P53420	p.Asp51His	rs1489514277	missense variant	-	NC_000002.12:g.227140202C>G	gnomAD
COL4A4	P53420	p.Cys52Phe	rs773187959	missense variant	-	NC_000002.12:g.227140198C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ser53Cys	rs771913348	missense variant	-	NC_000002.12:g.227140195G>C	ExAC,gnomAD
COL4A4	P53420	p.Val54Gly	rs537516406	missense variant	-	NC_000002.12:g.227140192A>C	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Cys55Phe	rs570529667	missense variant	-	NC_000002.12:g.227140189C>A	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Glu60Gln	rs1317174183	missense variant	-	NC_000002.12:g.227140175C>G	TOPMed,gnomAD
COL4A4	P53420	p.Arg64Trp	RCV000625690	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227140163G>A	ClinVar
COL4A4	P53420	p.Arg64Gln	rs371326070	missense variant	-	NC_000002.12:g.227140162C>T	NCI-TCGA
COL4A4	P53420	p.Arg64Trp	rs200668675	missense variant	-	NC_000002.12:g.227140163G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg64Gln	rs371326070	missense variant	-	NC_000002.12:g.227140162C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg64Trp	rs200668675	missense variant	-	NC_000002.12:g.227140163G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly65Ser	rs776036994	missense variant	-	NC_000002.12:g.227121148C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly65Cys	rs776036994	missense variant	-	NC_000002.12:g.227121148C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly65Val	rs771517961	missense variant	-	NC_000002.12:g.227121147C>A	ExAC,gnomAD
COL4A4	P53420	p.Pro66Leu	rs1182359031	missense variant	-	NC_000002.12:g.227121144G>A	TOPMed
COL4A4	P53420	p.Pro66Ser	rs758822531	missense variant	-	NC_000002.12:g.227121145G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro67Ser	rs755183371	missense variant	-	NC_000002.12:g.227121142G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro67Ala	rs755183371	missense variant	-	NC_000002.12:g.227121142G>C	ExAC,gnomAD
COL4A4	P53420	p.Gly68Val	rs753903329	missense variant	-	NC_000002.12:g.227121138C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro69Thr	rs199748684	missense variant	-	NC_000002.12:g.227121136G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro70Gln	rs751497878	missense variant	-	NC_000002.12:g.227121132G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro70Thr	rs1233036321	missense variant	-	NC_000002.12:g.227121133G>T	gnomAD
COL4A4	P53420	p.Pro70Leu	rs751497878	missense variant	-	NC_000002.12:g.227121132G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro72Ser	rs1439965299	missense variant	-	NC_000002.12:g.227121127G>A	gnomAD
COL4A4	P53420	p.Gly74Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227121120C>G	NCI-TCGA
COL4A4	P53420	p.Gly74Asp	rs1320190484	missense variant	-	NC_000002.12:g.227121120C>T	-
COL4A4	P53420	p.Ile76Val	rs546883881	missense variant	-	NC_000002.12:g.227121115T>C	1000Genomes,TOPMed,gnomAD
COL4A4	P53420	p.Ile76Thr	rs1334613513	missense variant	-	NC_000002.12:g.227121114A>G	gnomAD
COL4A4	P53420	p.Pro78Thr	rs762682812	missense variant	-	NC_000002.12:g.227121109G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro78Ser	rs762682812	missense variant	-	NC_000002.12:g.227121109G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu79Met	rs764905079	missense variant	-	NC_000002.12:g.227121106G>T	ExAC,gnomAD
COL4A4	P53420	p.Leu79Val	rs764905079	missense variant	-	NC_000002.12:g.227121106G>C	ExAC,gnomAD
COL4A4	P53420	p.Gly80Arg	rs1329673922	missense variant	-	NC_000002.12:g.227121103C>T	TOPMed
COL4A4	P53420	p.Gly80Glu	rs1463746360	missense variant	-	NC_000002.12:g.227121102C>T	gnomAD
COL4A4	P53420	p.Ala81Val	rs747022394	missense variant	-	NC_000002.12:g.227121099G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala81Thr	rs1371498491	missense variant	-	NC_000002.12:g.227121100C>T	TOPMed,gnomAD
COL4A4	P53420	p.Ala81Asp	rs747022394	missense variant	-	NC_000002.12:g.227121099G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro82Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227121097G>A	NCI-TCGA
COL4A4	P53420	p.Gly83Glu	COSM3578446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227121093C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly83Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227121064_227121094TTCCTTTCTCTCCTGAAAGCCCAATGGGTCC>-	NCI-TCGA
COL4A4	P53420	p.Gly83Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227121093C>A	NCI-TCGA
COL4A4	P53420	p.Ile85Thr	rs370260682	missense variant	-	NC_000002.12:g.227121087A>G	ESP
COL4A4	P53420	p.Gly86Arg	rs776396958	missense variant	-	NC_000002.12:g.227121085C>T	ExAC,gnomAD
COL4A4	P53420	p.Leu87Ile	rs1278670559	missense variant	-	NC_000002.12:g.227121082G>T	TOPMed
COL4A4	P53420	p.Ser88Leu	rs1236298157	missense variant	-	NC_000002.12:g.227121078G>A	TOPMed
COL4A4	P53420	p.Glu90Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227121071C>A	NCI-TCGA
COL4A4	P53420	p.Met93Thr	rs1190123470	missense variant	-	NC_000002.12:g.227121063A>G	gnomAD
COL4A4	P53420	p.Asp96Ter	RCV000681744	frameshift	-	NC_000002.12:g.227121059_227121060TC[1]	ClinVar
COL4A4	P53420	p.Asp96Asn	rs772710366	missense variant	-	NC_000002.12:g.227121055C>T	ExAC,gnomAD
COL4A4	P53420	p.Arg97His	rs769110804	missense variant	-	NC_000002.12:g.227121051C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg97Cys	rs202096172	missense variant	-	NC_000002.12:g.227121052G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly98Ser	rs780323761	missense variant	-	NC_000002.12:g.227121049C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro99Ser	rs1195937907	missense variant	-	NC_000002.12:g.227121046G>A	TOPMed
COL4A4	P53420	p.Pro99Leu	rs1284690918	missense variant	-	NC_000002.12:g.227121045G>A	gnomAD
COL4A4	P53420	p.Pro100Ser	COSM720446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227121043G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Ala102Val	rs1312002999	missense variant	-	NC_000002.12:g.227121036G>A	gnomAD
COL4A4	P53420	p.Ala102Thr	rs1353334452	missense variant	-	NC_000002.12:g.227121037C>T	gnomAD
COL4A4	P53420	p.Ala103Ser	rs1400862810	missense variant	-	NC_000002.12:g.227121034C>A	gnomAD
COL4A4	P53420	p.Asp105Asn	rs1434359218	missense variant	-	NC_000002.12:g.227121028C>T	TOPMed
COL4A4	P53420	p.Lys106Arg	rs1362665820	missense variant	-	NC_000002.12:g.227121024T>C	gnomAD
COL4A4	P53420	p.Gly107Glu	rs375164188	missense variant	-	NC_000002.12:g.227121021C>T	ESP
COL4A4	P53420	p.Gly107Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227121021C>A	NCI-TCGA
COL4A4	P53420	p.Lys109Arg	rs750519151	missense variant	-	NC_000002.12:g.227121015T>C	ExAC
COL4A4	P53420	p.Gly110Ala	rs1370340334	missense variant	-	NC_000002.12:g.227119938C>G	gnomAD
COL4A4	P53420	p.Pro111Ser	rs753687104	missense variant	-	NC_000002.12:g.227119936G>A	ExAC,gnomAD
COL4A4	P53420	p.Thr112Ser	rs1449679821	missense variant	-	NC_000002.12:g.227119932G>C	TOPMed,gnomAD
COL4A4	P53420	p.Thr112Ile	rs1449679821	missense variant	-	NC_000002.12:g.227119932G>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly113Asp	rs766085522	missense variant	-	NC_000002.12:g.227119929C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val114Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227119926A>C	NCI-TCGA
COL4A4	P53420	p.Val114Phe	rs1298004547	missense variant	-	NC_000002.12:g.227119927C>A	gnomAD
COL4A4	P53420	p.Pro115Ser	rs1449204399	missense variant	-	NC_000002.12:g.227119924G>A	gnomAD
COL4A4	P53420	p.Gly116Glu	RCV000666465	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227119920C>T	ClinVar
COL4A4	P53420	p.Gly116Glu	rs1553696235	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227119920C>T	UniProt,dbSNP
COL4A4	P53420	p.Gly116Glu	VAR_031623	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227119920C>T	UniProt
COL4A4	P53420	p.Gly116Glu	rs1553696235	missense variant	-	NC_000002.12:g.227119920C>T	-
COL4A4	P53420	p.Pro118Ser	rs1175135285	missense variant	-	NC_000002.12:g.227119915G>A	TOPMed,gnomAD
COL4A4	P53420	p.Asp121Asn	rs750148143	missense variant	-	NC_000002.12:g.227119906C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly122Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227119903C>A	NCI-TCGA
COL4A4	P53420	p.Gly122Ser	rs1158707020	missense variant	-	NC_000002.12:g.227119903C>T	gnomAD
COL4A4	P53420	p.Ile123Val	rs1420850914	missense variant	-	NC_000002.12:g.227119900T>C	gnomAD
COL4A4	P53420	p.Pro124Ser	rs1248327412	missense variant	-	NC_000002.12:g.227119897G>A	TOPMed,gnomAD
COL4A4	P53420	p.His126Tyr	rs1484937864	missense variant	-	NC_000002.12:g.227118758G>A	TOPMed,gnomAD
COL4A4	P53420	p.Pro127Arg	rs779972153	missense variant	-	NC_000002.12:g.227118754G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly128Glu	rs1246194968	missense variant	-	NC_000002.12:g.227118751C>T	TOPMed,gnomAD
COL4A4	P53420	p.Pro129Arg	rs750094664	missense variant	-	NC_000002.12:g.227118748G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro130Ala	rs1037499264	missense variant	-	NC_000002.12:g.227118746G>C	TOPMed,gnomAD
COL4A4	P53420	p.Pro130Ser	rs1037499264	missense variant	-	NC_000002.12:g.227118746G>A	TOPMed,gnomAD
COL4A4	P53420	p.Lys135Asn	rs565906863	missense variant	-	NC_000002.12:g.227118729T>A	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Pro136Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227118727G>A	NCI-TCGA
COL4A4	P53420	p.Gly137Asp	RCV000666252	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227118724C>T	ClinVar
COL4A4	P53420	p.Gly137Ser	rs1383488518	missense variant	-	NC_000002.12:g.227118725C>T	gnomAD
COL4A4	P53420	p.Gly137Asp	rs377511303	missense variant	-	NC_000002.12:g.227118724C>T	ESP,gnomAD
COL4A4	P53420	p.Ser139Asn	rs751085711	missense variant	-	NC_000002.12:g.227118718C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly140Ser	rs764467972	missense variant	-	NC_000002.12:g.227118716C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly140Asp	rs763477153	missense variant	-	NC_000002.12:g.227118715C>T	ExAC,gnomAD
COL4A4	P53420	p.Asn142Ser	rs1474749958	missense variant	-	NC_000002.12:g.227118709T>C	TOPMed,gnomAD
COL4A4	P53420	p.Gly143Ser	COSM3909735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227118707C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly143Val	RCV000673705	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227118706C>A	ClinVar
COL4A4	P53420	p.Gly143Val	rs1553695389	missense variant	-	NC_000002.12:g.227118706C>A	-
COL4A4	P53420	p.Ser144Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227118703G>T	NCI-TCGA
COL4A4	P53420	p.Ser144Ala	rs1423990568	missense variant	-	NC_000002.12:g.227118704A>C	gnomAD
COL4A4	P53420	p.Ser144Leu	rs368884003	missense variant	-	NC_000002.12:g.227118703G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg145Lys	rs1426912912	missense variant	-	NC_000002.12:g.227118700C>T	gnomAD
COL4A4	P53420	p.Gly146Ser	RCV000344933	missense variant	Alport syndrome	NC_000002.12:g.227118698C>T	ClinVar
COL4A4	P53420	p.Gly146Ser	rs886055729	missense variant	-	NC_000002.12:g.227118698C>T	-
COL4A4	P53420	p.Pro148Arg	rs1033767488	missense variant	-	NC_000002.12:g.227118691G>C	gnomAD
COL4A4	P53420	p.Pro148Leu	rs1033767488	missense variant	-	NC_000002.12:g.227118691G>A	gnomAD
COL4A4	P53420	p.Gly149Val	RCV000408863	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227118688C>A	ClinVar
COL4A4	P53420	p.Gly149Val	rs374815903	missense variant	-	NC_000002.12:g.227118688C>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly149Glu	rs374815903	missense variant	-	NC_000002.12:g.227118688C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro151Ser	COSM1017306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227118683G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly152Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227118679C>T	NCI-TCGA
COL4A4	P53420	p.Gly153Glu	rs773360119	missense variant	-	NC_000002.12:g.227118676C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly153Val	rs773360119	missense variant	-	NC_000002.12:g.227118676C>A	ExAC,gnomAD
COL4A4	P53420	p.Arg154Gly	rs772093309	missense variant	-	NC_000002.12:g.227118674T>C	ExAC,gnomAD
COL4A4	P53420	p.Arg154Ser	rs369520774	missense variant	-	NC_000002.12:g.227118672T>A	ESP
COL4A4	P53420	p.Gly155Glu	COSM5861920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227118670C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly155Ala	rs1319037678	missense variant	-	NC_000002.12:g.227118670C>G	gnomAD
COL4A4	P53420	p.Leu157Val	rs1229178343	missense variant	-	NC_000002.12:g.227118665G>C	gnomAD
COL4A4	P53420	p.Pro159Ser	RCV000735656	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227118659G>A	ClinVar
COL4A4	P53420	p.Pro159Ser	rs760873029	missense variant	-	NC_000002.12:g.227118659G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly160Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227118655C>T	NCI-TCGA
COL4A4	P53420	p.Gly161Asp	rs745672795	missense variant	-	NC_000002.12:g.227118652C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly161Arg	rs755961411	missense variant	-	NC_000002.12:g.227118653C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly161Val	rs745672795	missense variant	-	NC_000002.12:g.227118652C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly161Val	RCV000517766	missense variant	-	NC_000002.12:g.227118652C>A	ClinVar
COL4A4	P53420	p.Pro162Leu	rs901711159	missense variant	-	NC_000002.12:g.227118649G>A	TOPMed,gnomAD
COL4A4	P53420	p.Pro162His	rs901711159	missense variant	-	NC_000002.12:g.227118649G>T	TOPMed,gnomAD
COL4A4	P53420	p.Gly164Ser	COSM3578445	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227114696C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.His165Tyr	COSM1482819	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227114693G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.His165Leu	rs1395435419	missense variant	-	NC_000002.12:g.227114692T>A	gnomAD
COL4A4	P53420	p.Pro166Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227114690G>T	NCI-TCGA
COL4A4	P53420	p.Lys169Asn	rs545808060	missense variant	-	NC_000002.12:g.227114679C>G	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Gly170Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227114678C>T	NCI-TCGA
COL4A4	P53420	p.Gly170Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227114677C>T	NCI-TCGA
COL4A4	P53420	p.Glu171Ter	rs1029503113	stop gained	-	NC_000002.12:g.227114675C>A	gnomAD
COL4A4	P53420	p.Gly173Glu	COSM4403575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227114668C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly173Arg	rs1440886472	missense variant	-	NC_000002.12:g.227114669C>T	NCI-TCGA
COL4A4	P53420	p.Gly173Arg	rs1440886472	missense variant	-	NC_000002.12:g.227114669C>T	gnomAD
COL4A4	P53420	p.Val176Glu	rs781063130	missense variant	-	NC_000002.12:g.227114659A>T	ExAC,gnomAD
COL4A4	P53420	p.Val176Met	rs745619587	missense variant	-	NC_000002.12:g.227114660C>T	ExAC,gnomAD
COL4A4	P53420	p.Val176Leu	rs745619587	missense variant	-	NC_000002.12:g.227114660C>G	ExAC,gnomAD
COL4A4	P53420	p.Phe177Ser	COSM1017305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227114656A>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Ile178Leu	rs1421795484	missense variant	-	NC_000002.12:g.227114654T>G	TOPMed
COL4A4	P53420	p.Gly180Asp	rs770685084	missense variant	-	NC_000002.12:g.227114647C>T	ExAC,gnomAD
COL4A4	P53420	p.Ala181Ser	RCV000289981	missense variant	Alport syndrome	NC_000002.12:g.227114645C>A	ClinVar
COL4A4	P53420	p.Ala181Ser	rs200707549	missense variant	-	NC_000002.12:g.227114645C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val182Ile	rs377231912	missense variant	-	NC_000002.12:g.227114642C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val182Ile	rs377231912	missense variant	-	NC_000002.12:g.227114642C>T	NCI-TCGA
COL4A4	P53420	p.Lys183Arg	rs1277626593	missense variant	-	NC_000002.12:g.227114638T>C	gnomAD
COL4A4	P53420	p.Gly184Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227114635C>T	NCI-TCGA
COL4A4	P53420	p.Gly184Ser	rs1232924793	missense variant	-	NC_000002.12:g.227114636C>T	gnomAD
COL4A4	P53420	p.Gln186Ter	rs1351388457	stop gained	-	NC_000002.12:g.227114630G>A	gnomAD
COL4A4	P53420	p.Gly187Val	rs1464679930	missense variant	-	NC_000002.12:g.227111712C>A	TOPMed
COL4A4	P53420	p.Asp188Gly	rs146817833	missense variant	-	NC_000002.12:g.227111709T>C	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Arg189Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227111706C>T	NCI-TCGA
COL4A4	P53420	p.Gly190Trp	rs773010701	missense variant	-	NC_000002.12:g.227111704C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly190Arg	rs773010701	missense variant	-	NC_000002.12:g.227111704C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro192Ala	rs774055390	missense variant	-	NC_000002.12:g.227111698G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly193Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227111695C>A	NCI-TCGA
COL4A4	P53420	p.Pro195Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227111689G>A	NCI-TCGA
COL4A4	P53420	p.Pro198Leu	rs780541925	missense variant	-	NC_000002.12:g.227111679G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro198Ser	rs1039244540	missense variant	-	NC_000002.12:g.227111680G>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly199Val	RCV000735719	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227109285C>A	ClinVar
COL4A4	P53420	p.Gly199Arg	rs750345987	missense variant	-	NC_000002.12:g.227109286C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly199Arg	rs750345987	missense variant	-	NC_000002.12:g.227109286C>G	ExAC,gnomAD
COL4A4	P53420	p.Ser200Phe	rs1218583485	missense variant	-	NC_000002.12:g.227109282G>A	gnomAD
COL4A4	P53420	p.Trp201Ter	rs761528354	stop gained	-	NC_000002.12:g.227109279C>T	ExAC,gnomAD
COL4A4	P53420	p.Trp201Ser	rs761528354	missense variant	-	NC_000002.12:g.227109279C>G	ExAC,gnomAD
COL4A4	P53420	p.Gly202Cys	rs751385680	missense variant	-	NC_000002.12:g.227109277C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly202Arg	rs751385680	missense variant	-	NC_000002.12:g.227109277C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly202Asp	rs1357694989	missense variant	-	NC_000002.12:g.227109276C>T	gnomAD
COL4A4	P53420	p.Pro206Gln	rs537557592	missense variant	-	NC_000002.12:g.227109264G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro206Ser	rs1304616090	missense variant	-	NC_000002.12:g.227109265G>A	TOPMed
COL4A4	P53420	p.Pro206Leu	rs537557592	missense variant	-	NC_000002.12:g.227109264G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala207Val	rs369698515	missense variant	-	NC_000002.12:g.227109261G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro209Thr	rs759179373	missense variant	-	NC_000002.12:g.227109256G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro209Ala	rs759179373	missense variant	-	NC_000002.12:g.227109256G>C	ExAC,gnomAD
COL4A4	P53420	p.Thr210Pro	rs777222455	missense variant	-	NC_000002.12:g.227109253T>G	ExAC,gnomAD
COL4A4	P53420	p.Gly211Val	rs771573074	missense variant	-	NC_000002.12:g.227109249C>A	ExAC
COL4A4	P53420	p.Tyr212Asp	rs747325360	missense variant	-	NC_000002.12:g.227109247A>C	ExAC
COL4A4	P53420	p.Tyr212Phe	rs777975866	missense variant	-	NC_000002.12:g.227109246T>A	ExAC,gnomAD
COL4A4	P53420	p.Pro213His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227109243G>T	NCI-TCGA
COL4A4	P53420	p.Glu215Lys	rs1419670867	missense variant	-	NC_000002.12:g.227109238C>T	gnomAD
COL4A4	P53420	p.Leu218Val	rs772522685	missense variant	-	NC_000002.12:g.227109229A>C	ExAC,gnomAD
COL4A4	P53420	p.Val219Gly	rs1423413485	missense variant	-	NC_000002.12:g.227109225A>C	gnomAD
COL4A4	P53420	p.Gly220Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227108867C>G	NCI-TCGA
COL4A4	P53420	p.Gly220Glu	rs760317280	missense variant	-	NC_000002.12:g.227108867C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro221Ala	rs1261138757	missense variant	-	NC_000002.12:g.227108865G>C	TOPMed
COL4A4	P53420	p.Pro221His	rs1313627769	missense variant	-	NC_000002.12:g.227108864G>T	gnomAD
COL4A4	P53420	p.Pro221Ser	rs1261138757	missense variant	-	NC_000002.12:g.227108865G>A	TOPMed
COL4A4	P53420	p.Pro222Leu	RCV000625685	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227108861G>A	ClinVar
COL4A4	P53420	p.Pro222Leu	rs773533313	missense variant	-	NC_000002.12:g.227108861G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro222Leu	rs773533313	missense variant	-	NC_000002.12:g.227108861G>A	NCI-TCGA
COL4A4	P53420	p.Pro225Ser	rs370606294	missense variant	-	NC_000002.12:g.227108853G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro225Thr	rs370606294	missense variant	-	NC_000002.12:g.227108853G>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro225Ter	RCV000669739	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227108846_227108853del	ClinVar
COL4A4	P53420	p.Gly226Ter	RCV000627656	frameshift	-	NC_000002.12:g.227108851dup	ClinVar
COL4A4	P53420	p.Arg227Cys	rs774801022	missense variant	-	NC_000002.12:g.227108847G>A	NCI-TCGA
COL4A4	P53420	p.Arg227His	rs368248078	missense variant	-	NC_000002.12:g.227108846C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg227Pro	rs368248078	missense variant	-	NC_000002.12:g.227108846C>G	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg227Cys	rs774801022	missense variant	-	NC_000002.12:g.227108847G>A	ExAC,gnomAD
COL4A4	P53420	p.Arg227His	RCV000518682	missense variant	-	NC_000002.12:g.227108846C>T	ClinVar
COL4A4	P53420	p.Pro228Thr	rs1037232355	missense variant	-	NC_000002.12:g.227108844G>T	TOPMed
COL4A4	P53420	p.Pro228Gln	rs749481247	missense variant	-	NC_000002.12:g.227108843G>T	ExAC,gnomAD
COL4A4	P53420	p.Gly232Glu	rs866282147	missense variant	-	NC_000002.12:g.227108621C>T	gnomAD
COL4A4	P53420	p.Pro234Leu	rs1447568992	missense variant	-	NC_000002.12:g.227108615G>A	gnomAD
COL4A4	P53420	p.Gly235Ser	rs767862394	missense variant	-	NC_000002.12:g.227108613C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly235Ser	rs767862394	missense variant	-	NC_000002.12:g.227108613C>T	NCI-TCGA
COL4A4	P53420	p.Val236Met	rs762358388	missense variant	-	NC_000002.12:g.227108610C>T	NCI-TCGA
COL4A4	P53420	p.Val236GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227108610_227108611insTGTCCTTTTG	NCI-TCGA
COL4A4	P53420	p.Val236Met	rs762358388	missense variant	-	NC_000002.12:g.227108610C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val236Ala	rs1443756298	missense variant	-	NC_000002.12:g.227108609A>G	TOPMed,gnomAD
COL4A4	P53420	p.Val238Ala	rs376458953	missense variant	-	NC_000002.12:g.227108603A>G	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly240Glu	RCV000785885	missense variant	Benign familial hematuria (BFH)	NC_000002.12:g.227108597C>T	ClinVar
COL4A4	P53420	p.Gln241Lys	rs374740993	missense variant	-	NC_000002.12:g.227108595G>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln241His	rs201673987	missense variant	-	NC_000002.12:g.227108593T>G	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Met242Thr	rs1485925927	missense variant	-	NC_000002.12:g.227108591A>G	TOPMed
COL4A4	P53420	p.Met242Val	rs1046865969	missense variant	-	NC_000002.12:g.227108592T>C	TOPMed
COL4A4	P53420	p.Asp244Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227108586C>T	NCI-TCGA
COL4A4	P53420	p.Pro245Leu	rs770011392	missense variant	-	NC_000002.12:g.227108582G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro245Leu	rs770011392	missense variant	-	NC_000002.12:g.227108582G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Gly246Asp	RCV000710860	missense variant	-	NC_000002.12:g.227104051C>T	ClinVar
COL4A4	P53420	p.Val248Ala	rs754031227	missense variant	-	NC_000002.12:g.227104045A>G	ExAC,TOPMed
COL4A4	P53420	p.Gly249Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227104043C>A	NCI-TCGA
COL4A4	P53420	p.Gly249Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227104042C>A	NCI-TCGA
COL4A4	P53420	p.Gly252Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227104034C>A	NCI-TCGA
COL4A4	P53420	p.Gly252Val	rs760795817	missense variant	-	NC_000002.12:g.227104033C>A	ExAC,gnomAD
COL4A4	P53420	p.Pro256Thr	rs773445256	missense variant	-	NC_000002.12:g.227104022G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro256Ser	rs773445256	missense variant	-	NC_000002.12:g.227104022G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Thr257Pro	rs772327384	missense variant	-	NC_000002.12:g.227104019T>G	ExAC,gnomAD
COL4A4	P53420	p.Val260Ala	rs1374748296	missense variant	-	NC_000002.12:g.227104009A>G	TOPMed
COL4A4	P53420	p.Val260Ile	rs775358063	missense variant	-	NC_000002.12:g.227104010C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu261Lys	rs1431345926	missense variant	-	NC_000002.12:g.227104007C>T	TOPMed,gnomAD
COL4A4	P53420	p.Pro262Ala	rs1332780688	missense variant	-	NC_000002.12:g.227104004G>C	TOPMed
COL4A4	P53420	p.Pro263Arg	rs369108674	missense variant	-	NC_000002.12:g.227104000G>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp264Glu	rs780832023	missense variant	-	NC_000002.12:g.227103996G>T	ExAC,gnomAD
COL4A4	P53420	p.Phe265Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227103995A>C	NCI-TCGA
COL4A4	P53420	p.Leu267Val	rs1255159935	missense variant	-	NC_000002.12:g.227103989G>C	TOPMed
COL4A4	P53420	p.Leu267Pro	rs374994488	missense variant	-	NC_000002.12:g.227103988A>G	ESP,ExAC,gnomAD
COL4A4	P53420	p.Tyr268Cys	rs372007783	missense variant	-	NC_000002.12:g.227103985T>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Lys269Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227103981T>A	NCI-TCGA
COL4A4	P53420	p.Lys269Arg	rs1486055358	missense variant	-	NC_000002.12:g.227103982T>C	gnomAD
COL4A4	P53420	p.Gly270Arg	COSM3578444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227103980C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly270Glu	COSM3578443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227103979C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly273Ser	rs762043158	missense variant	-	NC_000002.12:g.227103197C>T	ExAC,gnomAD
COL4A4	P53420	p.Ile274Met	rs1211056075	missense variant	-	NC_000002.12:g.227103192T>C	gnomAD
COL4A4	P53420	p.Ile274Val	rs531009724	missense variant	-	NC_000002.12:g.227103194T>C	ExAC,gnomAD
COL4A4	P53420	p.Gly276Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227103187C>T	NCI-TCGA
COL4A4	P53420	p.Gly276Ala	rs202242354	missense variant	-	NC_000002.12:g.227103187C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val281Asp	rs1227443063	missense variant	-	NC_000002.12:g.227103172A>T	TOPMed,gnomAD
COL4A4	P53420	p.Val281Ala	rs1227443063	missense variant	-	NC_000002.12:g.227103172A>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly282Glu	COSM5895563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227103169C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro284Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227103164G>A	NCI-TCGA
COL4A4	P53420	p.Pro284Leu	rs1393803026	missense variant	-	NC_000002.12:g.227103163G>A	gnomAD
COL4A4	P53420	p.Pro287Arg	rs771508613	missense variant	-	NC_000002.12:g.227103154G>C	ExAC
COL4A4	P53420	p.Gly288Arg	rs1386252160	missense variant	-	NC_000002.12:g.227103152C>T	gnomAD
COL4A4	P53420	p.Arg289His	rs201724183	missense variant	-	NC_000002.12:g.227103148C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg289Cys	rs371904688	missense variant	-	NC_000002.12:g.227103149G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Lys290Asn	COSM1017304	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227103144C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Lys290Ter	rs1370407423	stop gained	-	NC_000002.12:g.227103146T>A	gnomAD
COL4A4	P53420	p.Gly291Arg	rs371191979	missense variant	-	NC_000002.12:g.227102848C>T	ESP,TOPMed,gnomAD
COL4A4	P53420	p.Glu292Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227102845C>A	NCI-TCGA
COL4A4	P53420	p.Gly294Asp	COSM3578442	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227102838C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Ile295Val	rs200169272	missense variant	-	NC_000002.12:g.227102836T>C	1000Genomes
COL4A4	P53420	p.Ile295Thr	rs770226190	missense variant	-	NC_000002.12:g.227102835A>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ile295Thr	rs770226190	missense variant	-	NC_000002.12:g.227102835A>G	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Ala297Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227102830C>T	NCI-TCGA
COL4A4	P53420	p.Gly299Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227102824C>A	NCI-TCGA
COL4A4	P53420	p.Gly299GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227102825T>-	NCI-TCGA
COL4A4	P53420	p.Gly299Arg	rs757578262	missense variant	-	NC_000002.12:g.227102824C>T	ExAC,gnomAD
COL4A4	P53420	p.Glu300Gly	rs1275985842	missense variant	-	NC_000002.12:g.227102820T>C	TOPMed
COL4A4	P53420	p.Lys301Glu	rs201436618	missense variant	-	NC_000002.12:g.227102818T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly302Ter	RCV000735812	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227102820dup	ClinVar
COL4A4	P53420	p.Gly302Asp	rs777687210	missense variant	-	NC_000002.12:g.227102814C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly302Ala	rs777687210	missense variant	-	NC_000002.12:g.227102814C>G	ExAC,gnomAD
COL4A4	P53420	p.Gly305Val	rs1469837124	missense variant	-	NC_000002.12:g.227102805C>A	gnomAD
COL4A4	P53420	p.Pro309Ser	COSM268932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227102794G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro309His	rs758573964	missense variant	-	NC_000002.12:g.227102793G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg310Gln	rs373741172	missense variant	-	NC_000002.12:g.227102790C>T	NCI-TCGA
COL4A4	P53420	p.Arg310Trp	RCV000274626	missense variant	Alport syndrome	NC_000002.12:g.227102791G>A	ClinVar
COL4A4	P53420	p.Arg310Gln	rs373741172	missense variant	-	NC_000002.12:g.227102790C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg310Trp	rs200817090	missense variant	-	NC_000002.12:g.227102791G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly311Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227101908C>A	NCI-TCGA
COL4A4	P53420	p.Gly314Val	RCV000735782	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227101899C>A	ClinVar
COL4A4	P53420	p.Tyr316Cys	rs758339455	missense variant	-	NC_000002.12:g.227101893T>C	ExAC,gnomAD
COL4A4	P53420	p.Gly317Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227101890C>T	NCI-TCGA
COL4A4	P53420	p.Gly317Val	rs1250483068	missense variant	-	NC_000002.12:g.227101890C>A	gnomAD
COL4A4	P53420	p.Ser318Phe	rs1187623318	missense variant	-	NC_000002.12:g.227101887G>A	gnomAD
COL4A4	P53420	p.Phe321Ser	rs779914520	missense variant	-	NC_000002.12:g.227101878A>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro322Leu	rs1254001825	missense variant	-	NC_000002.12:g.227101875G>A	gnomAD
COL4A4	P53420	p.Leu324Phe	rs543879807	missense variant	-	NC_000002.12:g.227101868T>G	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Lys325Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227101865C>A	NCI-TCGA
COL4A4	P53420	p.Glu327Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227101554C>A	NCI-TCGA
COL4A4	P53420	p.Glu327Gly	rs375714304	missense variant	-	NC_000002.12:g.227101553T>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu327Lys	rs369963377	missense variant	-	NC_000002.12:g.227101554C>T	ESP,ExAC,gnomAD
COL4A4	P53420	p.Gly329Arg	rs1162654150	missense variant	-	NC_000002.12:g.227101548C>T	TOPMed
COL4A4	P53420	p.Val331Ile	rs781202513	missense variant	-	NC_000002.12:g.227101542C>T	ExAC,gnomAD
COL4A4	P53420	p.Val331Phe	rs781202513	missense variant	-	NC_000002.12:g.227101542C>A	ExAC,gnomAD
COL4A4	P53420	p.Asp333Asn	rs1450067865	missense variant	-	NC_000002.12:g.227101536C>T	gnomAD
COL4A4	P53420	p.Pro334Ser	rs756935668	missense variant	-	NC_000002.12:g.227101533G>A	ExAC
COL4A4	P53420	p.Leu336Val	rs1391966809	missense variant	-	NC_000002.12:g.227101527G>C	TOPMed,gnomAD
COL4A4	P53420	p.Gly338Ala	rs1454970232	missense variant	-	NC_000002.12:g.227101520C>G	TOPMed
COL4A4	P53420	p.Gly341Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227101511C>A	NCI-TCGA
COL4A4	P53420	p.Pro342Leu	rs751402558	missense variant	-	NC_000002.12:g.227101508G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro346Ser	rs1042927949	missense variant	-	NC_000002.12:g.227099683G>A	TOPMed
COL4A4	P53420	p.Arg349Ter	RCV000517925	nonsense	-	NC_000002.12:g.227099674G>A	ClinVar
COL4A4	P53420	p.Arg349Ter	rs534522842	stop gained	-	NC_000002.12:g.227099674G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg349Gln	rs768664524	missense variant	-	NC_000002.12:g.227099673C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg349Ter	rs534522842	stop gained	-	NC_000002.12:g.227099674G>A	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Gly350Arg	rs1425658406	missense variant	-	NC_000002.12:g.227099671C>T	gnomAD
COL4A4	P53420	p.His351Tyr	rs749374824	missense variant	-	NC_000002.12:g.227099668G>A	ExAC,gnomAD
COL4A4	P53420	p.His351Gln	rs566734739	missense variant	-	NC_000002.12:g.227099666G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro352Leu	rs371717486	missense variant	-	NC_000002.12:g.227099664G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro355Ala	rs368293426	missense variant	-	NC_000002.12:g.227099656G>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro355Leu	rs1272544606	missense variant	-	NC_000002.12:g.227099655G>A	gnomAD
COL4A4	P53420	p.Leu358Phe	rs374680846	missense variant	-	NC_000002.12:g.227099645C>G	TOPMed,gnomAD
COL4A4	P53420	p.Pro361Gln	rs758324376	missense variant	-	NC_000002.12:g.227099637G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro361Arg	rs758324376	missense variant	-	NC_000002.12:g.227099637G>C	ExAC,gnomAD
COL4A4	P53420	p.Pro362Ser	rs1418303214	missense variant	-	NC_000002.12:g.227099635G>A	TOPMed,gnomAD
COL4A4	P53420	p.Leu363Phe	rs560819344	missense variant	-	NC_000002.12:g.227099632G>A	NCI-TCGA
COL4A4	P53420	p.Leu363Phe	rs560819344	missense variant	-	NC_000002.12:g.227099632G>A	TOPMed,gnomAD
COL4A4	P53420	p.Pro364Leu	rs1282280651	missense variant	-	NC_000002.12:g.227099628G>A	TOPMed,gnomAD
COL4A4	P53420	p.Lys366Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227099623T>A	NCI-TCGA
COL4A4	P53420	p.Lys366Thr	rs1351856671	missense variant	-	NC_000002.12:g.227099622T>G	gnomAD
COL4A4	P53420	p.Gly367Ser	rs764981982	missense variant	-	NC_000002.12:g.227099620C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly367Asp	rs754649548	missense variant	-	NC_000002.12:g.227098798C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro369Gln	rs753486694	missense variant	-	NC_000002.12:g.227098792G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly370Glu	rs779604374	missense variant	-	NC_000002.12:g.227098789C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly370Arg	RCV000681778	missense variant	-	NC_000002.12:g.227098790C>T	ClinVar
COL4A4	P53420	p.Asp371Tyr	COSM1326373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098787C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp371Gly	rs1275375343	missense variant	-	NC_000002.12:g.227098786T>C	NCI-TCGA
COL4A4	P53420	p.Asp371Gly	rs1275375343	missense variant	-	NC_000002.12:g.227098786T>C	gnomAD
COL4A4	P53420	p.Pro372ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227098782_227098783TG>-	NCI-TCGA
COL4A4	P53420	p.Pro372Ala	rs1234751719	missense variant	-	NC_000002.12:g.227098784G>C	TOPMed,gnomAD
COL4A4	P53420	p.Gly373Glu	RCV000516503	missense variant	-	NC_000002.12:g.227098780C>T	ClinVar
COL4A4	P53420	p.Gly373Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227098781C>T	NCI-TCGA
COL4A4	P53420	p.Gly373Glu	rs755649235	missense variant	-	NC_000002.12:g.227098780C>T	ExAC,gnomAD
COL4A4	P53420	p.Phe374AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227098772_227098778CAGGGAA>-	NCI-TCGA
COL4A4	P53420	p.Pro375Thr	rs750876779	missense variant	-	NC_000002.12:g.227098775G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro375Leu	rs1210956763	missense variant	-	NC_000002.12:g.227098774G>A	gnomAD
COL4A4	P53420	p.Arg377Ser	COSM1405946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098769G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg377Cys	RCV000825323	missense variant	-	NC_000002.12:g.227098769G>A	ClinVar
COL4A4	P53420	p.Arg377Cys	RCV000673765	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227098769G>A	ClinVar
COL4A4	P53420	p.Arg377Cys	rs555143841	missense variant	-	NC_000002.12:g.227098769G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg377His	rs762117485	missense variant	-	NC_000002.12:g.227098768C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly379Glu	COSM3578440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098762C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Glu380Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227098760C>A	NCI-TCGA
COL4A4	P53420	p.Thr381Ile	rs1314208165	missense variant	-	NC_000002.12:g.227098756G>A	gnomAD
COL4A4	P53420	p.Gly382Ala	rs751952236	missense variant	-	NC_000002.12:g.227098753C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp383Asn	COSM1405945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098751C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp383His	rs1298169388	missense variant	-	NC_000002.12:g.227098751C>G	gnomAD
COL4A4	P53420	p.Asp383Gly	rs764482364	missense variant	-	NC_000002.12:g.227098750T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val384Ile	rs763210833	missense variant	-	NC_000002.12:g.227098748C>T	ExAC,gnomAD
COL4A4	P53420	p.Pro386Leu	rs769910854	missense variant	-	NC_000002.12:g.227098741G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro386Ser	rs775630232	missense variant	-	NC_000002.12:g.227098742G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro387Leu	rs1162767245	missense variant	-	NC_000002.12:g.227098738G>A	gnomAD
COL4A4	P53420	p.Pro387Arg	rs1162767245	missense variant	-	NC_000002.12:g.227098738G>C	gnomAD
COL4A4	P53420	p.Pro387Ser	rs1351733260	missense variant	-	NC_000002.12:g.227098739G>A	gnomAD
COL4A4	P53420	p.Pro389Ser	COSM4460429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098733G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro389Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227098732G>A	NCI-TCGA
COL4A4	P53420	p.Pro389His	rs1444625451	missense variant	-	NC_000002.12:g.227098732G>T	gnomAD
COL4A4	P53420	p.Pro390Ser	COSM3578439	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227098730G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro390GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227098729G>-	NCI-TCGA
COL4A4	P53420	p.Gly391Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227098726C>A	NCI-TCGA
COL4A4	P53420	p.Leu392Val	rs1391341843	missense variant	-	NC_000002.12:g.227098724G>C	TOPMed,gnomAD
COL4A4	P53420	p.Leu392Ile	rs1391341843	missense variant	-	NC_000002.12:g.227098724G>T	TOPMed,gnomAD
COL4A4	P53420	p.Leu393Trp	rs995082623	missense variant	-	NC_000002.12:g.227098720A>C	gnomAD
COL4A4	P53420	p.Leu393Ser	rs995082623	missense variant	-	NC_000002.12:g.227098720A>G	gnomAD
COL4A4	P53420	p.Gly397Arg	rs773140858	missense variant	-	NC_000002.12:g.227098709C>T	ExAC,gnomAD
COL4A4	P53420	p.Cys400Gly	rs1329712764	missense variant	-	NC_000002.12:g.227098700A>C	TOPMed
COL4A4	P53420	p.Ala401Val	RCV000604763	missense variant	-	NC_000002.12:g.227098696G>A	ClinVar
COL4A4	P53420	p.Ala401Val	rs199581317	missense variant	-	NC_000002.12:g.227098696G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala401Thr	rs971177655	missense variant	-	NC_000002.12:g.227098697C>T	TOPMed,gnomAD
COL4A4	P53420	p.Ala401Pro	rs971177655	missense variant	-	NC_000002.12:g.227098697C>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly402Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227098694C>T	NCI-TCGA
COL4A4	P53420	p.Gly402Asp	rs201233834	missense variant	-	NC_000002.12:g.227094289C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly402Val	rs201233834	missense variant	-	NC_000002.12:g.227094289C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Met403Ile	COSM1017303	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227094285C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro406Arg	rs549802744	missense variant	-	NC_000002.12:g.227094277G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro406Leu	rs549802744	missense variant	-	NC_000002.12:g.227094277G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro406Ser	rs768501162	missense variant	-	NC_000002.12:g.227094278G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro407His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227094274G>T	NCI-TCGA
COL4A4	P53420	p.Pro407Leu	rs1408599134	missense variant	-	NC_000002.12:g.227094274G>A	gnomAD
COL4A4	P53420	p.Pro407Ser	rs745574182	missense variant	-	NC_000002.12:g.227094275G>A	ExAC,gnomAD
COL4A4	P53420	p.Gly408Ter	RCV000735751	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227094258_227094274del	ClinVar
COL4A4	P53420	p.Gly408Glu	rs1026613471	missense variant	-	NC_000002.12:g.227094271C>T	gnomAD
COL4A4	P53420	p.Pro409Ser	RCV000592398	missense variant	-	NC_000002.12:g.227094269G>A	ClinVar
COL4A4	P53420	p.Pro409Thr	rs377292825	missense variant	-	NC_000002.12:g.227094269G>T	ESP,ExAC,gnomAD
COL4A4	P53420	p.Pro409Leu	rs747508280	missense variant	-	NC_000002.12:g.227094268G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro409Ser	rs377292825	missense variant	-	NC_000002.12:g.227094269G>A	ESP,ExAC,gnomAD
COL4A4	P53420	p.Gln410Arg	rs778254234	missense variant	-	NC_000002.12:g.227094265T>C	ExAC,gnomAD
COL4A4	P53420	p.Gly411Glu	COSM3578438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227094262C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly411Ter	COSM280058	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227094263C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly411Arg	rs758729139	missense variant	-	NC_000002.12:g.227094263C>T	ExAC,gnomAD
COL4A4	P53420	p.Phe412Cys	rs753022770	missense variant	-	NC_000002.12:g.227094259A>C	ExAC,gnomAD
COL4A4	P53420	p.Gly414Arg	rs373150214	missense variant	-	NC_000002.12:g.227094254C>G	ESP,TOPMed
COL4A4	P53420	p.Leu415Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227094251G>C	NCI-TCGA
COL4A4	P53420	p.Leu415Ile	rs1249738800	missense variant	-	NC_000002.12:g.227094251G>T	gnomAD
COL4A4	P53420	p.Pro416Ser	rs372841765	missense variant	-	NC_000002.12:g.227094248G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro416Ser	rs372841765	missense variant	-	NC_000002.12:g.227094248G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro416Ala	rs372841765	missense variant	-	NC_000002.12:g.227094248G>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu418Phe	rs896901315	missense variant	-	NC_000002.12:g.227094242G>A	gnomAD
COL4A4	P53420	p.Pro419Thr	rs1260987762	missense variant	-	NC_000002.12:g.227094239G>T	TOPMed,gnomAD
COL4A4	P53420	p.Pro419Ser	rs1260987762	missense variant	-	NC_000002.12:g.227094239G>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly420Glu	rs1330069551	missense variant	-	NC_000002.12:g.227094235C>T	gnomAD
COL4A4	P53420	p.Glu421Val	rs755138243	missense variant	-	NC_000002.12:g.227094232T>A	ExAC,gnomAD
COL4A4	P53420	p.Ala422Thr	rs1249855254	missense variant	-	NC_000002.12:g.227094230C>T	TOPMed
COL4A4	P53420	p.Ile424Thr	rs766565996	missense variant	-	NC_000002.12:g.227094223A>G	ExAC,gnomAD
COL4A4	P53420	p.Ile424Ser	rs766565996	missense variant	-	NC_000002.12:g.227094223A>C	ExAC,gnomAD
COL4A4	P53420	p.Ile424Val	rs754175145	missense variant	-	NC_000002.12:g.227094224T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro425Ser	rs376942659	missense variant	-	NC_000002.12:g.227094221G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly426Arg	rs552375817	missense variant	-	NC_000002.12:g.227094218C>T	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Gly426Glu	rs1019388756	missense variant	-	NC_000002.12:g.227094217C>T	TOPMed,gnomAD
COL4A4	P53420	p.Gly426Glu	rs1019388756	missense variant	-	NC_000002.12:g.227094217C>T	NCI-TCGA
COL4A4	P53420	p.Arg427Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227094214C>A	NCI-TCGA
COL4A4	P53420	p.Pro428Thr	rs1469022535	missense variant	-	NC_000002.12:g.227094212G>T	gnomAD
COL4A4	P53420	p.Pro428His	rs768175504	missense variant	-	NC_000002.12:g.227094211G>T	gnomAD
COL4A4	P53420	p.Ala431Val	rs373583878	missense variant	-	NC_000002.12:g.227094202G>A	ESP
COL4A4	P53420	p.Gly433Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227094197C>A	NCI-TCGA
COL4A4	P53420	p.Gly433Glu	rs1468186854	missense variant	-	NC_000002.12:g.227094196C>T	gnomAD
COL4A4	P53420	p.Gly433Arg	rs1160845292	missense variant	-	NC_000002.12:g.227094197C>T	gnomAD
COL4A4	P53420	p.Gly433Ala	rs1468186854	missense variant	-	NC_000002.12:g.227094196C>G	gnomAD
COL4A4	P53420	p.Gly433Glu	rs1468186854	missense variant	-	NC_000002.12:g.227094196C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro438Leu	rs201932355	missense variant	-	NC_000002.12:g.227094181G>A	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Gly439Arg	rs1489854655	missense variant	-	NC_000002.12:g.227094179C>T	TOPMed
COL4A4	P53420	p.Gly439Ala	rs769678857	missense variant	-	NC_000002.12:g.227094178C>G	ExAC,gnomAD
COL4A4	P53420	p.Pro441_Ala446del	VAR_008148	inframe_deletion	-	-	UniProt
COL4A4	P53420	p.Gly442Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227094169C>T	NCI-TCGA
COL4A4	P53420	p.Leu443Met	rs1202808022	missense variant	-	NC_000002.12:g.227094167A>T	gnomAD
COL4A4	P53420	p.Gly445Ala	rs548019779	missense variant	-	NC_000002.12:g.227094160C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro447Leu	rs952623313	missense variant	-	NC_000002.12:g.227094154G>A	TOPMed
COL4A4	P53420	p.Gln450His	rs758856398	missense variant	-	NC_000002.12:g.227094144C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln450Glu	rs778200765	missense variant	-	NC_000002.12:g.227094146G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly451Ser	rs1381210450	missense variant	-	NC_000002.12:g.227094143C>T	gnomAD
COL4A4	P53420	p.Pro453Arg	rs779135957	missense variant	-	NC_000002.12:g.227094136G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro453Leu	rs779135957	missense variant	-	NC_000002.12:g.227094136G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro453Ser	rs1436290027	missense variant	-	NC_000002.12:g.227094137G>A	gnomAD
COL4A4	P53420	p.Gly454Val	COSM1405943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227094133C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly454Arg	rs1319908269	missense variant	-	NC_000002.12:g.227094134C>T	TOPMed,gnomAD
COL4A4	P53420	p.Ser456Arg	rs1398573472	missense variant	-	NC_000002.12:g.227094126A>T	gnomAD
COL4A4	P53420	p.Ser456Arg	rs1363033921	missense variant	-	NC_000002.12:g.227094128T>G	TOPMed
COL4A4	P53420	p.Tyr459His	rs765230841	missense variant	-	NC_000002.12:g.227089952A>G	ExAC,gnomAD
COL4A4	P53420	p.Cys460Tyr	RCV000735741	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227089948C>T	ClinVar
COL4A4	P53420	p.Cys460Tyr	rs753659852	missense variant	-	NC_000002.12:g.227089948C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly463Glu	rs1275096105	missense variant	-	NC_000002.12:g.227089939C>T	gnomAD
COL4A4	P53420	p.Asn464Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227089936T>C	NCI-TCGA
COL4A4	P53420	p.Asn464Lys	rs760310493	missense variant	-	NC_000002.12:g.227089935G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro465His	rs200411532	missense variant	-	NC_000002.12:g.227089933G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro465Leu	rs200411532	missense variant	-	NC_000002.12:g.227089933G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly466Arg	RCV000518015	missense variant	-	NC_000002.12:g.227089931C>T	ClinVar
COL4A4	P53420	p.Gly466Arg	rs201859109	missense variant	-	NC_000002.12:g.227089931C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro467Leu	rs1356222440	missense variant	-	NC_000002.12:g.227089927G>A	gnomAD
COL4A4	P53420	p.Gly469Ter	RCV000669401	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227089922C>A	ClinVar
COL4A4	P53420	p.Gly469Arg	rs926605269	missense variant	-	NC_000002.12:g.227089922C>G	TOPMed
COL4A4	P53420	p.Gly469Arg	rs926605269	missense variant	-	NC_000002.12:g.227089922C>T	TOPMed
COL4A4	P53420	p.Gly469Ter	rs926605269	stop gained	-	NC_000002.12:g.227089922C>A	TOPMed
COL4A4	P53420	p.Ile470Val	rs898704658	missense variant	-	NC_000002.12:g.227089919T>C	TOPMed
COL4A4	P53420	p.Lys471Arg	rs1425551756	missense variant	-	NC_000002.12:g.227089915T>C	gnomAD
COL4A4	P53420	p.Lys471Asn	rs1178918119	missense variant	-	NC_000002.12:g.227089914T>A	gnomAD
COL4A4	P53420	p.Gly472Asp	rs1280731376	missense variant	-	NC_000002.12:g.227089912C>T	TOPMed
COL4A4	P53420	p.Val474Phe	COSM1017302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227089907C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Val474Ala	rs769320178	missense variant	-	NC_000002.12:g.227089906A>G	ExAC,gnomAD
COL4A4	P53420	p.Val474Asp	rs769320178	missense variant	-	NC_000002.12:g.227089906A>T	ExAC,gnomAD
COL4A4	P53420	p.Gly475Cys	RCV000681862	missense variant	-	NC_000002.12:g.227089904C>A	ClinVar
COL4A4	P53420	p.Gly475Val	RCV000735674	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227089903C>A	ClinVar
COL4A4	P53420	p.Gly475Ser	rs1371408968	missense variant	-	NC_000002.12:g.227089904C>T	gnomAD
COL4A4	P53420	p.Pro476Ser	rs780544830	missense variant	-	NC_000002.12:g.227089901G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro476Ala	rs780544830	missense variant	-	NC_000002.12:g.227089901G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro476Thr	rs780544830	missense variant	-	NC_000002.12:g.227089901G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly478Arg	COSM3578435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227089895C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly478Glu	rs781479400	missense variant	-	NC_000002.12:g.227089894C>T	ExAC
COL4A4	P53420	p.Gly479Glu	COSM3578434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227089891C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly479Arg	RCV000354389	missense variant	Alport syndrome	NC_000002.12:g.227089892C>G	ClinVar
COL4A4	P53420	p.Gly479Arg	rs202210475	missense variant	-	NC_000002.12:g.227089892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly479Arg	rs202210475	missense variant	-	NC_000002.12:g.227089892C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg480Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227089888C>T	NCI-TCGA
COL4A4	P53420	p.Arg480Gly	rs1183415867	missense variant	-	NC_000002.12:g.227089889T>C	TOPMed
COL4A4	P53420	p.Gly481Ser	rs181528936	missense variant	-	NC_000002.12:g.227089886C>T	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Pro482Ser	RCV000299491	missense variant	Alport syndrome	NC_000002.12:g.227089883G>A	ClinVar
COL4A4	P53420	p.Pro482Ser	RCV000248568	missense variant	-	NC_000002.12:g.227089883G>A	ClinVar
COL4A4	P53420	p.Pro482Ser	rs2229814	missense variant	-	NC_000002.12:g.227089883G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro482Thr	rs2229814	missense variant	-	NC_000002.12:g.227089883G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro482Arg	rs1396011735	missense variant	-	NC_000002.12:g.227089882G>C	TOPMed
COL4A4	P53420	p.Lys483Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227089880T>G	NCI-TCGA
COL4A4	P53420	p.Gly484Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227089876C>T	NCI-TCGA
COL4A4	P53420	p.Glu485Ter	rs754875125	stop gained	-	NC_000002.12:g.227089874C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly487Glu	RCV000479726	missense variant	-	NC_000002.12:g.227088816C>T	ClinVar
COL4A4	P53420	p.Gly487Glu	rs1064796418	missense variant	-	NC_000002.12:g.227088816C>T	-
COL4A4	P53420	p.Asn488His	rs747230903	missense variant	-	NC_000002.12:g.227088814T>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly490Glu	rs1339269673	missense variant	-	NC_000002.12:g.227088807C>T	TOPMed
COL4A4	P53420	p.Gly490Arg	rs1316989602	missense variant	-	NC_000002.12:g.227088808C>T	gnomAD
COL4A4	P53420	p.Leu491Phe	rs777805216	missense variant	-	NC_000002.12:g.227088805G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Cys492Phe	rs758543409	missense variant	-	NC_000002.12:g.227088801C>A	ExAC,gnomAD
COL4A4	P53420	p.Cys494Arg	rs1321522432	missense variant	-	NC_000002.12:g.227088796A>G	gnomAD
COL4A4	P53420	p.Cys494Tyr	rs1455513537	missense variant	-	NC_000002.12:g.227088795C>T	TOPMed,gnomAD
COL4A4	P53420	p.Glu495Lys	rs749160885	missense variant	-	NC_000002.12:g.227088793C>T	ExAC,gnomAD
COL4A4	P53420	p.Met499Val	COSM6157235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088781T>C	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly500Val	COSM4092074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088777C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly500Asp	rs1182243065	missense variant	-	NC_000002.12:g.227088777C>T	gnomAD
COL4A4	P53420	p.Pro501Ser	rs755819211	missense variant	-	NC_000002.12:g.227088775G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro502LeuPheSerTerUnkUnkUnk	COSM1405942	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227088771G>-	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro502Ser	rs767258671	missense variant	-	NC_000002.12:g.227088772G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro502Ala	rs767258671	missense variant	-	NC_000002.12:g.227088772G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly503TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227088770_227088771insG	NCI-TCGA
COL4A4	P53420	p.Pro504Leu	COSM1405941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088765G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro504Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227088766G>A	NCI-TCGA
COL4A4	P53420	p.Pro505Leu	rs756912251	missense variant	-	NC_000002.12:g.227088762G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly506Glu	rs1258499665	missense variant	-	NC_000002.12:g.227088759C>T	gnomAD
COL4A4	P53420	p.Pro508Ser	COSM3909733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088754G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly509Glu	COSM1017301	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088750C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly509Trp	COSM4399517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088751C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg510Ser	rs1293880566	missense variant	-	NC_000002.12:g.227088746C>A	gnomAD
COL4A4	P53420	p.Arg510Lys	rs763691757	missense variant	-	NC_000002.12:g.227088747C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln511Pro	rs1243647983	missense variant	-	NC_000002.12:g.227088744T>G	gnomAD
COL4A4	P53420	p.Gly512Arg	rs1298055778	missense variant	-	NC_000002.12:g.227088742C>T	gnomAD
COL4A4	P53420	p.Ser513Gly	rs367596778	missense variant	-	NC_000002.12:g.227088739T>C	ESP,TOPMed
COL4A4	P53420	p.Ser513Asn	rs762556340	missense variant	-	NC_000002.12:g.227088738C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly515Arg	rs765866000	missense variant	-	NC_000002.12:g.227088733C>T	NCI-TCGA
COL4A4	P53420	p.Gly515Ter	rs765866000	stop gained	-	NC_000002.12:g.227088733C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly515Arg	rs765866000	missense variant	-	NC_000002.12:g.227088733C>T	ExAC,gnomAD
COL4A4	P53420	p.Asp516Glu	COSM4092073	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088728G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp516Asn	rs1437323443	missense variant	-	NC_000002.12:g.227088730C>T	gnomAD
COL4A4	P53420	p.Asp516Val	rs759776011	missense variant	-	NC_000002.12:g.227088729T>A	ExAC,gnomAD
COL4A4	P53420	p.Gly518Glu	COSM5861918	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227088723C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly518Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227088724C>T	NCI-TCGA
COL4A4	P53420	p.Gly518Val	rs564334744	missense variant	-	NC_000002.12:g.227088723C>A	1000Genomes
COL4A4	P53420	p.Leu519Val	rs777020629	missense variant	-	NC_000002.12:g.227088721G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu519Phe	rs777020629	missense variant	-	NC_000002.12:g.227088721G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu519Ile	rs777020629	missense variant	-	NC_000002.12:g.227088721G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro520Leu	rs771245112	missense variant	-	NC_000002.12:g.227088717G>A	NCI-TCGA
COL4A4	P53420	p.Pro520Leu	rs771245112	missense variant	-	NC_000002.12:g.227088717G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro520Ser	rs994436130	missense variant	-	NC_000002.12:g.227088718G>A	TOPMed,gnomAD
COL4A4	P53420	p.Trp522Leu	rs1329215208	missense variant	-	NC_000002.12:g.227088711C>A	gnomAD
COL4A4	P53420	p.Leu523Phe	rs184755865	missense variant	-	NC_000002.12:g.227088709G>A	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Gly524Glu	rs772086694	missense variant	-	NC_000002.12:g.227088705C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Thr525Ile	rs748252231	missense variant	-	NC_000002.12:g.227088702G>A	ExAC,gnomAD
COL4A4	P53420	p.Lys526Asn	rs1047016888	missense variant	-	NC_000002.12:g.227088698T>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly527Asp	rs1358624171	missense variant	-	NC_000002.12:g.227088696C>T	gnomAD
COL4A4	P53420	p.Gly527Cys	RCV000670337	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227088697C>A	ClinVar
COL4A4	P53420	p.Gly527Cys	rs779930511	missense variant	-	NC_000002.12:g.227088697C>A	ExAC,gnomAD
COL4A4	P53420	p.Asp528Glu	rs1251758935	missense variant	-	NC_000002.12:g.227088692G>T	TOPMed,gnomAD
COL4A4	P53420	p.Pro531Leu	rs781028305	missense variant	-	NC_000002.12:g.227088684G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro531Ser	rs745843581	missense variant	-	NC_000002.12:g.227088685G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro532Ser	rs1220014019	missense variant	-	NC_000002.12:g.227088682G>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly533Asp	RCV000672440	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227088678C>T	ClinVar
COL4A4	P53420	p.Gly533Asp	rs1553669704	missense variant	-	NC_000002.12:g.227088678C>T	-
COL4A4	P53420	p.Ala534Thr	rs757066334	missense variant	-	NC_000002.12:g.227088676C>T	ExAC,gnomAD
COL4A4	P53420	p.Glu535Ter	RCV000516179	nonsense	-	NC_000002.12:g.227088673C>A	ClinVar
COL4A4	P53420	p.Glu535Ter	rs1553669674	stop gained	-	NC_000002.12:g.227088673C>A	-
COL4A4	P53420	p.Pro537Thr	rs572051556	missense variant	-	NC_000002.12:g.227088667G>T	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Pro538Ala	rs976957703	missense variant	-	NC_000002.12:g.227088664G>C	TOPMed
COL4A4	P53420	p.Leu540Pro	rs374709257	missense variant	-	NC_000002.12:g.227088657A>G	TOPMed,gnomAD
COL4A4	P53420	p.Pro541Gln	rs1315043344	missense variant	-	NC_000002.12:g.227088654G>T	TOPMed
COL4A4	P53420	p.Gly542Glu	COSM3578432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227082186C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Lys543Gln	COSM4092072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227082184T>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Lys543Asn	rs768676046	missense variant	-	NC_000002.12:g.227082182C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.His544Tyr	rs745815071	missense variant	-	NC_000002.12:g.227082181G>A	ExAC,gnomAD
COL4A4	P53420	p.Gly545Ala	RCV000263301	missense variant	Alport syndrome	NC_000002.12:g.227082177C>G	ClinVar
COL4A4	P53420	p.Gly545Ala	rs1800516	missense variant	-	NC_000002.12:g.227082177C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala546Ser	rs1407850296	missense variant	-	NC_000002.12:g.227082175C>A	gnomAD
COL4A4	P53420	p.Pro549Thr	rs770699956	missense variant	-	NC_000002.12:g.227082166G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro550Leu	rs746822428	missense variant	-	NC_000002.12:g.227082162G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly554Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227082151C>A	NCI-TCGA
COL4A4	P53420	p.Gly554Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227082150C>T	NCI-TCGA
COL4A4	P53420	p.Ala555Val	rs371066387	missense variant	-	NC_000002.12:g.227082147G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Lys556Asn	rs764279454	missense variant	-	NC_000002.12:g.227082143C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Lys556Glu	rs752442074	missense variant	-	NC_000002.12:g.227082145T>C	ExAC,gnomAD
COL4A4	P53420	p.Gly557Ala	COSM3578429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227082141C>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly557Asp	rs1261519406	missense variant	-	NC_000002.12:g.227082141C>T	gnomAD
COL4A4	P53420	p.Asp558Asn	rs754510013	missense variant	-	NC_000002.12:g.227082139C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val561Ile	rs754315471	missense variant	-	NC_000002.12:g.227082130C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val564Ile	rs1262560467	missense variant	-	NC_000002.12:g.227082121C>T	gnomAD
COL4A4	P53420	p.His567Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227080547G>A	NCI-TCGA
COL4A4	P53420	p.Lys568Asn	rs779659612	missense variant	-	NC_000002.12:g.227080542T>G	ExAC,gnomAD
COL4A4	P53420	p.Gly569Glu	COSM3578427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080540C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Glu570Gln	VAR_008150	Missense	-	-	UniProt
COL4A4	P53420	p.Arg571Gly	rs372524863	missense variant	-	NC_000002.12:g.227080535T>C	ESP
COL4A4	P53420	p.Gly572Ala	RCV000672904	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227080531C>G	ClinVar
COL4A4	P53420	p.Gly572Ala	rs1446915781	missense variant	-	NC_000002.12:g.227080531C>G	TOPMed,gnomAD
COL4A4	P53420	p.Pro573Leu	rs1319812013	missense variant	-	NC_000002.12:g.227080528G>A	gnomAD
COL4A4	P53420	p.Asp574Glu	rs1415380548	missense variant	-	NC_000002.12:g.227080524A>T	TOPMed
COL4A4	P53420	p.Pro576Thr	rs750986328	missense variant	-	NC_000002.12:g.227080520G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro580Ser	rs1357636626	missense variant	-	NC_000002.12:g.227080508G>A	TOPMed
COL4A4	P53420	p.Pro583Ser	rs1332310606	missense variant	-	NC_000002.12:g.227080499G>A	TOPMed
COL4A4	P53420	p.Gly584Glu	COSM5528994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080495C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly584Val	COSM6157236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080495C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Ser585Thr	rs1415614071	missense variant	-	NC_000002.12:g.227080493A>T	gnomAD
COL4A4	P53420	p.His586Asn	rs757624919	missense variant	-	NC_000002.12:g.227080490G>T	ExAC,gnomAD
COL4A4	P53420	p.His586Asp	rs757624919	missense variant	-	NC_000002.12:g.227080490G>C	ExAC,gnomAD
COL4A4	P53420	p.His586Arg	rs751744651	missense variant	-	NC_000002.12:g.227080489T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly587Ser	rs764242946	missense variant	-	NC_000002.12:g.227080487C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly587Asp	rs566586172	missense variant	-	NC_000002.12:g.227080486C>T	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Arg588Trp	rs778889239	missense variant	-	NC_000002.12:g.227080484G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg588Gln	rs369334025	missense variant	-	NC_000002.12:g.227080483C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg588Trp	rs778889239	missense variant	-	NC_000002.12:g.227080484G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp589Glu	RCV000358072	missense variant	Alport syndrome	NC_000002.12:g.227080479A>T	ClinVar
COL4A4	P53420	p.Asp589Val	rs375225723	missense variant	-	NC_000002.12:g.227080480T>A	ESP,ExAC,gnomAD
COL4A4	P53420	p.Asp589Glu	rs886055727	missense variant	-	NC_000002.12:g.227080479A>T	-
COL4A4	P53420	p.Gly590Glu	COSM3047083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080477C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly590Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227080478C>A	NCI-TCGA
COL4A4	P53420	p.His591Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227080473A>T	NCI-TCGA
COL4A4	P53420	p.His591Arg	rs773347000	missense variant	-	NC_000002.12:g.227080474T>C	ExAC,gnomAD
COL4A4	P53420	p.Ala592Pro	rs771922842	missense variant	-	NC_000002.12:g.227080472C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala592Val	rs747981508	missense variant	-	NC_000002.12:g.227080471G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly593Arg	rs948847159	missense variant	-	NC_000002.12:g.227080469C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly593Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227080468C>T	NCI-TCGA
COL4A4	P53420	p.Gly593Arg	rs948847159	missense variant	-	NC_000002.12:g.227080469C>T	-
COL4A4	P53420	p.Glu594Gly	RCV000576871	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227080465T>C	ClinVar
COL4A4	P53420	p.Glu594Gly	rs35998949	missense variant	-	NC_000002.12:g.227080465T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu594Gly	rs35998949	missense variant	-	NC_000002.12:g.227080465T>C	UniProt,dbSNP
COL4A4	P53420	p.Glu594Gly	VAR_055680	missense variant	-	NC_000002.12:g.227080465T>C	UniProt
COL4A4	P53420	p.Glu594Ala	rs35998949	missense variant	-	NC_000002.12:g.227080465T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly596Glu	COSM3578424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080459C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp597His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227080457C>G	NCI-TCGA
COL4A4	P53420	p.Asp597Asn	rs755687527	missense variant	-	NC_000002.12:g.227080457C>T	ExAC
COL4A4	P53420	p.Pro598Thr	rs1411689737	missense variant	-	NC_000002.12:g.227080454G>T	NCI-TCGA
COL4A4	P53420	p.Pro598Thr	rs1411689737	missense variant	-	NC_000002.12:g.227080454G>T	TOPMed,gnomAD
COL4A4	P53420	p.Gly599Arg	COSM3578423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227080451C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro600His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227080447G>T	NCI-TCGA
COL4A4	P53420	p.Pro600Leu	rs1478679157	missense variant	-	NC_000002.12:g.227080447G>A	TOPMed
COL4A4	P53420	p.Pro600Ser	rs796349531	missense variant	-	NC_000002.12:g.227080448G>A	gnomAD
COL4A4	P53420	p.Pro600Thr	rs796349531	missense variant	-	NC_000002.12:g.227080448G>T	gnomAD
COL4A4	P53420	p.Pro601Ala	rs746310187	missense variant	-	NC_000002.12:g.227080445G>C	ExAC,gnomAD
COL4A4	P53420	p.Gly602Glu	COSM3909731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227078076C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp603Asn	rs1479512818	missense variant	-	NC_000002.12:g.227078074C>T	NCI-TCGA
COL4A4	P53420	p.Asp603Asn	rs1479512818	missense variant	-	NC_000002.12:g.227078074C>T	gnomAD
COL4A4	P53420	p.Ala607Val	RCV000735669	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227078061G>A	ClinVar
COL4A4	P53420	p.Ala607Gly	rs373916569	missense variant	-	NC_000002.12:g.227078061G>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala607Val	rs373916569	missense variant	-	NC_000002.12:g.227078061G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala607Thr	rs75539253	missense variant	-	NC_000002.12:g.227078062C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Thr608Asn	rs747599746	missense variant	-	NC_000002.12:g.227078058G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro609Leu	rs1205148307	missense variant	-	NC_000002.12:g.227078055G>A	gnomAD
COL4A4	P53420	p.Pro609Ala	rs1263397268	missense variant	-	NC_000002.12:g.227078056G>C	gnomAD
COL4A4	P53420	p.Gly610Ser	RCV000735781	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227078053C>T	ClinVar
COL4A4	P53420	p.Gly611Ser	rs758860164	missense variant	-	NC_000002.12:g.227078050C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly613Arg	COSM3578422	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227078044C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Phe614Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227078040A>G	NCI-TCGA
COL4A4	P53420	p.Gly616Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227078034C>T	NCI-TCGA
COL4A4	P53420	p.Gly619Asp	rs374340855	missense variant	-	NC_000002.12:g.227078025C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Gly619Asp	rs374340855	missense variant	-	NC_000002.12:g.227078025C>T	ESP,TOPMed,gnomAD
COL4A4	P53420	p.Pro620Ser	COSM3578421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227078023G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro620Leu	rs1383197806	missense variant	-	NC_000002.12:g.227078022G>A	gnomAD
COL4A4	P53420	p.Pro621GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227078019G>-	NCI-TCGA
COL4A4	P53420	p.Ala624Thr	COSM3578420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227078011C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro626Leu	rs1468423581	missense variant	-	NC_000002.12:g.227078004G>A	gnomAD
COL4A4	P53420	p.Pro629Ser	rs751582850	missense variant	-	NC_000002.12:g.227077996G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro629Ala	rs751582850	missense variant	-	NC_000002.12:g.227077996G>C	ExAC,gnomAD
COL4A4	P53420	p.Pro630GlnPheSerTerUnkUnk	COSM4449243	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227077997C>-	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro630Ter	RCV000681909	frameshift	-	NC_000002.12:g.227077996del	ClinVar
COL4A4	P53420	p.Gly631Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227077990C>T	NCI-TCGA
COL4A4	P53420	p.Gly633Glu	COSM3407633	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227077983C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly633Arg	rs1445668955	missense variant	-	NC_000002.12:g.227077984C>T	NCI-TCGA
COL4A4	P53420	p.Gly633Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227077984C>A	NCI-TCGA
COL4A4	P53420	p.Gly633Arg	rs1445668955	missense variant	-	NC_000002.12:g.227077984C>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly633Val	rs1245320351	missense variant	-	NC_000002.12:g.227077983C>A	gnomAD
COL4A4	P53420	p.Gly633Arg	rs1445668955	missense variant	-	NC_000002.12:g.227077984C>T	TOPMed,gnomAD
COL4A4	P53420	p.Pro635Ser	rs762822768	missense variant	-	NC_000002.12:g.227077978G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Pro635Ser	rs762822768	missense variant	-	NC_000002.12:g.227077978G>A	ExAC,gnomAD
COL4A4	P53420	p.Gly636Asp	RCV000735736	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227077974C>T	ClinVar
COL4A4	P53420	p.Gly636Asp	rs1559563141	missense variant	-	NC_000002.12:g.227077974C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro637Ser	rs775076627	missense variant	-	NC_000002.12:g.227077972G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro637Thr	rs775076627	missense variant	-	NC_000002.12:g.227077972G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro637Arg	rs1451317346	missense variant	-	NC_000002.12:g.227077971G>C	TOPMed
COL4A4	P53420	p.Glu640Gln	rs770528353	missense variant	-	NC_000002.12:g.227077963C>G	ExAC,gnomAD
COL4A4	P53420	p.Glu640Asp	rs772923694	missense variant	-	NC_000002.12:g.227077961C>G	ExAC,gnomAD
COL4A4	P53420	p.Glu640Lys	rs770528353	missense variant	-	NC_000002.12:g.227077963C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Glu640Lys	rs770528353	missense variant	-	NC_000002.12:g.227077963C>T	ExAC,gnomAD
COL4A4	P53420	p.Arg641Ter	rs778345125	stop gained	-	NC_000002.12:g.227077960G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg641Gln	rs772264905	missense variant	-	NC_000002.12:g.227077959C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg641Leu	rs772264905	missense variant	-	NC_000002.12:g.227077959C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg641Ter	rs778345125	stop gained	-	NC_000002.12:g.227077960G>A	ExAC,gnomAD
COL4A4	P53420	p.His643Gln	rs918067165	missense variant	-	NC_000002.12:g.227077952G>T	TOPMed,gnomAD
COL4A4	P53420	p.His643Gln	rs918067165	missense variant	-	NC_000002.12:g.227077952G>C	TOPMed,gnomAD
COL4A4	P53420	p.Gly645Arg	COSM3407631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227077948C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly645Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227077947C>T	NCI-TCGA
COL4A4	P53420	p.Pro647Ala	rs1474479165	missense variant	-	NC_000002.12:g.227077942G>C	TOPMed
COL4A4	P53420	p.His649Arg	rs1385828696	missense variant	-	NC_000002.12:g.227077935T>C	TOPMed
COL4A4	P53420	p.His649Gln	rs1378721742	missense variant	-	NC_000002.12:g.227077934G>T	TOPMed,gnomAD
COL4A4	P53420	p.Pro650Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227077933G>T	NCI-TCGA
COL4A4	P53420	p.Pro650Ser	rs1289625084	missense variant	-	NC_000002.12:g.227077933G>A	gnomAD
COL4A4	P53420	p.Pro650Ser	rs1289625084	missense variant	-	NC_000002.12:g.227077933G>A	NCI-TCGA
COL4A4	P53420	p.Val652Ala	rs1380965387	missense variant	-	NC_000002.12:g.227077926A>G	gnomAD
COL4A4	P53420	p.Arg653Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227077923C>T	NCI-TCGA
COL4A4	P53420	p.Gly654Asp	rs1158615890	missense variant	-	NC_000002.12:g.227077920C>T	NCI-TCGA
COL4A4	P53420	p.Gly654Asp	rs1158615890	missense variant	-	NC_000002.12:g.227077920C>T	gnomAD
COL4A4	P53420	p.Pro655Ser	RCV000308008	missense variant	Alport syndrome	NC_000002.12:g.227077918G>A	ClinVar
COL4A4	P53420	p.Pro655Ser	rs886055726	missense variant	-	NC_000002.12:g.227077918G>A	NCI-TCGA
COL4A4	P53420	p.Pro655Leu	rs1400871758	missense variant	-	NC_000002.12:g.227077917G>A	TOPMed
COL4A4	P53420	p.Pro655Ser	rs886055726	missense variant	-	NC_000002.12:g.227077918G>A	TOPMed
COL4A4	P53420	p.Asp656Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227077915C>T	NCI-TCGA
COL4A4	P53420	p.Asp656Gly	rs1387537859	missense variant	-	NC_000002.12:g.227077914T>C	TOPMed,gnomAD
COL4A4	P53420	p.Asp656Ala	rs1387537859	missense variant	-	NC_000002.12:g.227077914T>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly657Ala	rs755233004	missense variant	-	NC_000002.12:g.227077911C>G	ExAC,gnomAD
COL4A4	P53420	p.Leu658Met	rs754175083	missense variant	-	NC_000002.12:g.227077909A>T	ExAC,gnomAD
COL4A4	P53420	p.Gly660Cys	rs951795075	missense variant	-	NC_000002.12:g.227077903C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly660Cys	rs951795075	missense variant	-	NC_000002.12:g.227077903C>A	-
COL4A4	P53420	p.Gly663Asp	rs1471894276	missense variant	-	NC_000002.12:g.227062598C>T	TOPMed
COL4A4	P53420	p.Asp664Asn	rs201181725	missense variant	-	NC_000002.12:g.227062596C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ile666Val	rs1206960358	missense variant	-	NC_000002.12:g.227062590T>C	gnomAD
COL4A4	P53420	p.Ser667Tyr	rs1027545000	missense variant	-	NC_000002.12:g.227062586G>T	TOPMed
COL4A4	P53420	p.Val670Ile	RCV000401997	missense variant	Alport syndrome	NC_000002.12:g.227062578C>T	ClinVar
COL4A4	P53420	p.Val670Ile	rs34236495	missense variant	-	NC_000002.12:g.227062578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Thr671Ser	rs1224239459	missense variant	-	NC_000002.12:g.227062574G>C	gnomAD
COL4A4	P53420	p.Pro673Ala	rs772759757	missense variant	-	NC_000002.12:g.227062569G>C	ExAC,gnomAD
COL4A4	P53420	p.Pro673Ser	rs772759757	missense variant	-	NC_000002.12:g.227062569G>A	ExAC,gnomAD
COL4A4	P53420	p.Arg675Gly	rs1018765959	missense variant	-	NC_000002.12:g.227062563T>C	TOPMed,gnomAD
COL4A4	P53420	p.His676Arg	rs369522855	missense variant	-	NC_000002.12:g.227062559T>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.His676Pro	rs369522855	missense variant	-	NC_000002.12:g.227062559T>G	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly677Asp	COSM379243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227062556C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly680Ser	rs868455763	missense variant	-	NC_000002.12:g.227062548C>T	NCI-TCGA
COL4A4	P53420	p.Gly680Asp	RCV000516278	missense variant	-	NC_000002.12:g.227062547C>T	ClinVar
COL4A4	P53420	p.Gly680Ser	rs868455763	missense variant	-	NC_000002.12:g.227062548C>T	-
COL4A4	P53420	p.Gly680Asp	rs1553646081	missense variant	-	NC_000002.12:g.227062547C>T	-
COL4A4	P53420	p.Phe681Cys	rs1460723752	missense variant	-	NC_000002.12:g.227062544A>C	gnomAD
COL4A4	P53420	p.Asp682Gly	RCV000490277	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227062541T>C	ClinVar
COL4A4	P53420	p.Asp682Asn	rs1397709159	missense variant	-	NC_000002.12:g.227062542C>T	gnomAD
COL4A4	P53420	p.Asp682Gly	rs142093416	missense variant	-	NC_000002.12:g.227062541T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro684Leu	rs775537879	missense variant	-	NC_000002.12:g.227062535G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro684Arg	rs775537879	missense variant	-	NC_000002.12:g.227062535G>C	ExAC,gnomAD
COL4A4	P53420	p.Pro685Ser	rs770025316	missense variant	-	NC_000002.12:g.227062533G>A	ExAC,gnomAD
COL4A4	P53420	p.Gly686Asp	rs1156323870	missense variant	-	NC_000002.12:g.227060243C>T	TOPMed
COL4A4	P53420	p.Pro687Leu	rs776718481	missense variant	-	NC_000002.12:g.227060240G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro687Arg	rs776718481	missense variant	-	NC_000002.12:g.227060240G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly689Arg	rs1419631048	missense variant	-	NC_000002.12:g.227060235C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly689Arg	rs1419631048	missense variant	-	NC_000002.12:g.227060235C>T	TOPMed
COL4A4	P53420	p.Pro691Leu	rs193063790	missense variant	-	NC_000002.12:g.227060228G>A	1000Genomes,TOPMed
COL4A4	P53420	p.Gly692Arg	rs1353512742	missense variant	-	NC_000002.12:g.227060226C>G	gnomAD
COL4A4	P53420	p.Pro693Ser	rs572923977	missense variant	-	NC_000002.12:g.227060223G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Pro693Ser	rs572923977	missense variant	-	NC_000002.12:g.227060223G>A	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Pro693Leu	rs1454854538	missense variant	-	NC_000002.12:g.227060222G>A	gnomAD
COL4A4	P53420	p.Gly695Cys	COSM74223	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227060217C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly695Asp	RCV000673938	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227060216C>T	ClinVar
COL4A4	P53420	p.Gly695Asp	rs1553644402	missense variant	-	NC_000002.12:g.227060216C>T	-
COL4A4	P53420	p.Ala696Asp	rs1394976876	missense variant	-	NC_000002.12:g.227060213G>T	NCI-TCGA
COL4A4	P53420	p.Ala696Asp	rs1394976876	missense variant	-	NC_000002.12:g.227060213G>T	gnomAD
COL4A4	P53420	p.Pro697His	COSM6090721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227060210G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly698Arg	rs1241404192	missense variant	-	NC_000002.12:g.227060208C>T	TOPMed
COL4A4	P53420	p.Gly698Arg	RCV000681925	missense variant	-	NC_000002.12:g.227060208C>T	ClinVar
COL4A4	P53420	p.Gly701Val	rs781014928	missense variant	-	NC_000002.12:g.227060198C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly704Arg	rs1379525680	missense variant	-	NC_000002.12:g.227060190C>T	gnomAD
COL4A4	P53420	p.Gly704Arg	RCV000518448	missense variant	-	NC_000002.12:g.227060190C>T	ClinVar
COL4A4	P53420	p.His705Gln	rs375898877	missense variant	-	NC_000002.12:g.227060185A>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.His705Arg	rs751084682	missense variant	-	NC_000002.12:g.227060186T>C	ExAC,gnomAD
COL4A4	P53420	p.Lys706Thr	rs763538915	missense variant	-	NC_000002.12:g.227060183T>G	ExAC,gnomAD
COL4A4	P53420	p.Lys706Asn	rs1187070950	missense variant	-	NC_000002.12:g.227060182T>G	gnomAD
COL4A4	P53420	p.Arg708Ile	rs759828394	missense variant	-	NC_000002.12:g.227060177C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro712Leu	rs944601920	missense variant	-	NC_000002.12:g.227060165G>A	TOPMed,gnomAD
COL4A4	P53420	p.Pro712Arg	rs944601920	missense variant	-	NC_000002.12:g.227060165G>C	TOPMed,gnomAD
COL4A4	P53420	p.Ala715Val	rs76636743	missense variant	-	NC_000002.12:g.227060156G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu716Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227060154C>T	NCI-TCGA
COL4A4	P53420	p.Pro718Leu	rs1354637374	missense variant	-	NC_000002.12:g.227060147G>A	TOPMed,gnomAD
COL4A4	P53420	p.Pro718Leu	rs1354637374	missense variant	-	NC_000002.12:g.227060147G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro718Thr	rs772209566	missense variant	-	NC_000002.12:g.227060148G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro720Ser	rs1282108781	missense variant	-	NC_000002.12:g.227060142G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro720Ser	rs1282108781	missense variant	-	NC_000002.12:g.227060142G>A	gnomAD
COL4A4	P53420	p.Pro720Arg	rs749186337	missense variant	-	NC_000002.12:g.227060141G>C	ExAC,gnomAD
COL4A4	P53420	p.Pro720Leu	rs749186337	missense variant	-	NC_000002.12:g.227060141G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro720Leu	RCV000292890	missense variant	Alport syndrome	NC_000002.12:g.227060141G>A	ClinVar
COL4A4	P53420	p.Pro721Ser	rs200759521	missense variant	-	NC_000002.12:g.227060139G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro721Arg	rs1379168086	missense variant	-	NC_000002.12:g.227060138G>C	TOPMed
COL4A4	P53420	p.Arg724His	RCV000483855	missense variant	-	NC_000002.12:g.227059617C>T	ClinVar
COL4A4	P53420	p.Arg724Ser	COSM1017298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059618G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg724His	RCV000625621	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227059617C>T	ClinVar
COL4A4	P53420	p.Arg724Cys	rs754398956	missense variant	-	NC_000002.12:g.227059618G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg724Cys	rs754398956	missense variant	-	NC_000002.12:g.227059618G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg724His	rs200146486	missense variant	-	NC_000002.12:g.227059617C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp726Gly	rs1455477268	missense variant	-	NC_000002.12:g.227059611T>C	TOPMed,gnomAD
COL4A4	P53420	p.Met727Val	rs1259639203	missense variant	-	NC_000002.12:g.227059609T>C	gnomAD
COL4A4	P53420	p.Gly728Arg	rs202243658	missense variant	-	NC_000002.12:g.227059606C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp729Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059603C>A	NCI-TCGA
COL4A4	P53420	p.Asp729Asn	rs757875990	missense variant	-	NC_000002.12:g.227059603C>T	ExAC,gnomAD
COL4A4	P53420	p.Pro730Ser	COSM1017296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059600G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro730Leu	rs747641722	missense variant	-	NC_000002.12:g.227059599G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro730Ala	rs1263214485	missense variant	-	NC_000002.12:g.227059600G>C	gnomAD
COL4A4	P53420	p.Phe732Tyr	rs1471579492	missense variant	-	NC_000002.12:g.227059593A>T	TOPMed
COL4A4	P53420	p.Gly734Ser	rs1050293057	missense variant	-	NC_000002.12:g.227059588C>T	gnomAD
COL4A4	P53420	p.Glu735Lys	rs267599229	missense variant	-	NC_000002.12:g.227059585C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Glu735Lys	rs267599229	missense variant	-	NC_000002.12:g.227059585C>T	-
COL4A4	P53420	p.Gly737Arg	rs755416327	missense variant	-	NC_000002.12:g.227059579C>G	ExAC,gnomAD
COL4A4	P53420	p.Ser738Phe	COSM3578413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059575G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Ser738Tyr	rs1162166664	missense variant	-	NC_000002.12:g.227059575G>T	TOPMed
COL4A4	P53420	p.Ser738Ala	rs754410974	missense variant	-	NC_000002.12:g.227059576A>C	ExAC,gnomAD
COL4A4	P53420	p.Ser739Pro	rs1178327075	missense variant	-	NC_000002.12:g.227059573A>G	TOPMed,gnomAD
COL4A4	P53420	p.Ser739Phe	rs1190375982	missense variant	-	NC_000002.12:g.227059572G>A	gnomAD
COL4A4	P53420	p.Pro744Ser	rs764547396	missense variant	-	NC_000002.12:g.227059558G>A	gnomAD
COL4A4	P53420	p.Pro744Ala	rs764547396	missense variant	-	NC_000002.12:g.227059558G>C	gnomAD
COL4A4	P53420	p.Pro744Thr	rs764547396	missense variant	-	NC_000002.12:g.227059558G>T	gnomAD
COL4A4	P53420	p.Gly745Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059554C>T	NCI-TCGA
COL4A4	P53420	p.Pro747Leu	rs1300646978	missense variant	-	NC_000002.12:g.227059548G>A	TOPMed
COL4A4	P53420	p.Gly748Ser	rs762139460	missense variant	-	NC_000002.12:g.227059546C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Gly748Ser	rs762139460	missense variant	-	NC_000002.12:g.227059546C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly748Ala	rs1482809155	missense variant	-	NC_000002.12:g.227059545C>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly748Ser	RCV000673217	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227059546C>T	ClinVar
COL4A4	P53420	p.Ser749Ter	COSM3798693	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227059542G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Ser749Leu	COSM418843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059542G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly751Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227059537C>A	NCI-TCGA
COL4A4	P53420	p.Val752Leu	rs764295374	missense variant	-	NC_000002.12:g.227059534C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val752Met	rs764295374	missense variant	-	NC_000002.12:g.227059534C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asn753Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059530T>A	NCI-TCGA
COL4A4	P53420	p.Asn753Ser	rs1351571404	missense variant	-	NC_000002.12:g.227059530T>C	TOPMed
COL4A4	P53420	p.Gly754Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059527C>T	NCI-TCGA
COL4A4	P53420	p.Gln755Glu	rs1211648246	missense variant	-	NC_000002.12:g.227059525G>C	gnomAD
COL4A4	P53420	p.Gln755Arg	rs776710976	missense variant	-	NC_000002.12:g.227059524T>C	ExAC,gnomAD
COL4A4	P53420	p.Gly757Glu	COSM3047072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059518C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro759Leu	RCV000250969	missense variant	-	NC_000002.12:g.227059512G>A	ClinVar
COL4A4	P53420	p.Pro759Leu	rs36121515	missense variant	-	NC_000002.12:g.227059512G>A	UniProt,dbSNP
COL4A4	P53420	p.Pro759Leu	VAR_055682	missense variant	-	NC_000002.12:g.227059512G>A	UniProt
COL4A4	P53420	p.Pro759Leu	rs36121515	missense variant	-	NC_000002.12:g.227059512G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp761Ter	RCV000681761	frameshift	-	NC_000002.12:g.227059511dup	ClinVar
COL4A4	P53420	p.Asp761Ter	RCV000671532	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227059511dup	ClinVar
COL4A4	P53420	p.Asp761His	rs772959882	missense variant	-	NC_000002.12:g.227059507C>G	ExAC,gnomAD
COL4A4	P53420	p.Pro762Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059504G>T	NCI-TCGA
COL4A4	P53420	p.Pro762Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059504G>A	NCI-TCGA
COL4A4	P53420	p.Phe764Leu	rs904773552	missense variant	-	NC_000002.12:g.227059496A>C	TOPMed,gnomAD
COL4A4	P53420	p.Phe764Leu	rs771592467	missense variant	-	NC_000002.12:g.227059498A>G	ExAC,gnomAD
COL4A4	P53420	p.Gly765Val	rs747881404	missense variant	-	NC_000002.12:g.227059494C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly768Val	COSM1017295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059485C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly768Ter	rs1289891228	stop gained	-	NC_000002.12:g.227059486C>A	gnomAD
COL4A4	P53420	p.Pro769Ser	rs754523110	missense variant	-	NC_000002.12:g.227059483G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro769Leu	rs1186335206	missense variant	-	NC_000002.12:g.227059482G>A	TOPMed
COL4A4	P53420	p.Pro770Leu	rs374356930	missense variant	-	NC_000002.12:g.227059479G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Pro770Leu	rs374356930	missense variant	-	NC_000002.12:g.227059479G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly771Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227059477C>A	NCI-TCGA
COL4A4	P53420	p.Gly771Arg	rs1422059045	missense variant	-	NC_000002.12:g.227059477C>T	gnomAD
COL4A4	P53420	p.Gly771Glu	rs781660254	missense variant	-	NC_000002.12:g.227059476C>T	ExAC,gnomAD
COL4A4	P53420	p.Arg773Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059470C>A	NCI-TCGA
COL4A4	P53420	p.Arg773Thr	rs1441070476	missense variant	-	NC_000002.12:g.227059470C>G	TOPMed
COL4A4	P53420	p.Gly774Arg	RCV000626595	missense variant	Myopia	NC_000002.12:g.227059468C>G	ClinVar
COL4A4	P53420	p.Gly774Arg	RCV000665888	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227059468C>G	ClinVar
COL4A4	P53420	p.Gly774Arg	rs569681869	missense variant	-	NC_000002.12:g.227059468C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu775Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059465G>T	NCI-TCGA
COL4A4	P53420	p.Ser776Leu	COSM442416	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227059461G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro779Ala	RCV000371664	missense variant	Alport syndrome	NC_000002.12:g.227059453G>C	ClinVar
COL4A4	P53420	p.Pro779Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059452G>T	NCI-TCGA
COL4A4	P53420	p.Pro779Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059452G>A	NCI-TCGA
COL4A4	P53420	p.Pro779Ala	rs886055725	missense variant	-	NC_000002.12:g.227059453G>C	-
COL4A4	P53420	p.Gly783Ter	COSM1017294	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227059441C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly783Arg	rs879255339	missense variant	-	NC_000002.12:g.227059441C>T	TOPMed
COL4A4	P53420	p.Gly783Arg	RCV000239054	missense variant	-	NC_000002.12:g.227059441C>T	ClinVar
COL4A4	P53420	p.Arg785Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059434C>A	NCI-TCGA
COL4A4	P53420	p.Arg785Gly	rs1283723044	missense variant	-	NC_000002.12:g.227059435T>C	gnomAD
COL4A4	P53420	p.Gly786Ser	rs939081940	missense variant	-	NC_000002.12:g.227059432C>T	TOPMed
COL4A4	P53420	p.Asp787Val	rs1215651633	missense variant	-	NC_000002.12:g.227059428T>A	gnomAD
COL4A4	P53420	p.Pro788Leu	rs760734394	missense variant	-	NC_000002.12:g.227059425G>A	NCI-TCGA
COL4A4	P53420	p.Pro788Leu	rs760734394	missense variant	-	NC_000002.12:g.227059425G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly789Glu	rs1315169587	missense variant	-	NC_000002.12:g.227059422C>T	gnomAD
COL4A4	P53420	p.Cys790Tyr	rs761306857	missense variant	-	NC_000002.12:g.227059419C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly792Arg	rs768003309	missense variant	-	NC_000002.12:g.227059414C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly792Glu	rs538043516	missense variant	-	NC_000002.12:g.227059413C>T	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Gly792Arg	RCV000672416	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227059414C>T	ClinVar
COL4A4	P53420	p.Ala793Val	rs377676207	missense variant	-	NC_000002.12:g.227059410G>A	ESP,gnomAD
COL4A4	P53420	p.Ala793Val	RCV000261710	missense variant	Alport syndrome	NC_000002.12:g.227059410G>A	ClinVar
COL4A4	P53420	p.Glu794Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227059408C>T	NCI-TCGA
COL4A4	P53420	p.Gly795Arg	rs779584531	missense variant	-	NC_000002.12:g.227059405C>G	ExAC,gnomAD
COL4A4	P53420	p.Gly798Ser	rs760803228	missense variant	-	NC_000002.12:g.227057592C>T	TOPMed,gnomAD
COL4A4	P53420	p.Ile799Val	rs1021274942	missense variant	-	NC_000002.12:g.227057589T>C	TOPMed
COL4A4	P53420	p.Pro800Leu	rs200714000	missense variant	-	NC_000002.12:g.227057585G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro800Ser	rs773835909	missense variant	-	NC_000002.12:g.227057586G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro800Leu	rs200714000	missense variant	-	NC_000002.12:g.227057585G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro800Arg	rs200714000	missense variant	-	NC_000002.12:g.227057585G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro800Arg	RCV000320304	missense variant	Alport syndrome	NC_000002.12:g.227057585G>C	ClinVar
COL4A4	P53420	p.Gly801Ala	rs200814061	missense variant	-	NC_000002.12:g.227057582C>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly804Ser	rs891673170	missense variant	-	NC_000002.12:g.227057574C>T	TOPMed,gnomAD
COL4A4	P53420	p.Gly804Arg	rs891673170	missense variant	-	NC_000002.12:g.227057574C>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly807Ter	RCV000171505	frameshift	-	NC_000002.12:g.227057565del	ClinVar
COL4A4	P53420	p.Gly810Asp	rs774970509	missense variant	-	NC_000002.12:g.227057555C>T	ExAC,gnomAD
COL4A4	P53420	p.Arg811Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227057552C>T	NCI-TCGA
COL4A4	P53420	p.Arg811Gly	rs1386590600	missense variant	-	NC_000002.12:g.227057553T>C	gnomAD
COL4A4	P53420	p.Arg811Thr	rs1002702539	missense variant	-	NC_000002.12:g.227057552C>G	TOPMed
COL4A4	P53420	p.Glu812Ala	rs553409887	missense variant	-	NC_000002.12:g.227057549T>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu812Lys	rs907309781	missense variant	-	NC_000002.12:g.227057550C>T	TOPMed
COL4A4	P53420	p.Gly813Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227057547C>A	NCI-TCGA
COL4A4	P53420	p.Ala815Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227057541C>T	NCI-TCGA
COL4A4	P53420	p.Ala815Ser	rs771148902	missense variant	-	NC_000002.12:g.227057541C>A	ExAC,gnomAD
COL4A4	P53420	p.Ala815Val	rs1466061793	missense variant	-	NC_000002.12:g.227057540G>A	gnomAD
COL4A4	P53420	p.Gly816Glu	rs371817534	missense variant	-	NC_000002.12:g.227057537C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly816Val	rs371817534	missense variant	-	NC_000002.12:g.227057537C>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro818Arg	rs1432433857	missense variant	-	NC_000002.12:g.227057531G>C	gnomAD
COL4A4	P53420	p.Pro818Ser	rs1365404056	missense variant	-	NC_000002.12:g.227057532G>A	TOPMed
COL4A4	P53420	p.Pro821Ser	rs1180820053	missense variant	-	NC_000002.12:g.227057523G>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly822Cys	COSM4092071	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227057520C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly822Arg	rs1324890649	missense variant	-	NC_000002.12:g.227057520C>G	TOPMed
COL4A4	P53420	p.Pro824Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227057513G>A	NCI-TCGA
COL4A4	P53420	p.Gly825Asp	rs1397321824	missense variant	-	NC_000002.12:g.227057510C>T	TOPMed,gnomAD
COL4A4	P53420	p.His826Tyr	rs748437341	missense variant	-	NC_000002.12:g.227057508G>A	ExAC,gnomAD
COL4A4	P53420	p.Ser827Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227057504G>A	NCI-TCGA
COL4A4	P53420	p.Cys828Tyr	rs779129753	missense variant	-	NC_000002.12:g.227057501C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly831Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227057493C>T	NCI-TCGA
COL4A4	P53420	p.Gly831Ala	rs1484252868	missense variant	-	NC_000002.12:g.227057492C>G	TOPMed,gnomAD
COL4A4	P53420	p.Ala832Asp	rs755124629	missense variant	-	NC_000002.12:g.227057489G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala832Val	rs755124629	missense variant	-	NC_000002.12:g.227057489G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro833Leu	rs1290930254	missense variant	-	NC_000002.12:g.227057486G>A	TOPMed
COL4A4	P53420	p.Gly834Arg	COSM3578410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227057484C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro836Arg	rs1206644449	missense variant	-	NC_000002.12:g.227057477G>C	TOPMed
COL4A4	P53420	p.Gly837Ala	rs201648982	missense variant	-	NC_000002.12:g.227057474C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly837Ala	RCV000669439	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227057474C>G	ClinVar
COL4A4	P53420	p.Pro839Leu	RCV000305177	missense variant	Alport syndrome	NC_000002.12:g.227057468G>A	ClinVar
COL4A4	P53420	p.Pro839Leu	rs199562472	missense variant	-	NC_000002.12:g.227057468G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Pro839Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227057469G>A	NCI-TCGA
COL4A4	P53420	p.Pro839Leu	rs199562472	missense variant	-	NC_000002.12:g.227057468G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly843Glu	RCV000681759	missense variant	-	NC_000002.12:g.227057456C>T	ClinVar
COL4A4	P53420	p.Pro845Thr	rs775678728	missense variant	-	NC_000002.12:g.227057451G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro845Leu	rs1403694164	missense variant	-	NC_000002.12:g.227057450G>A	gnomAD
COL4A4	P53420	p.Pro845Ser	rs775678728	missense variant	-	NC_000002.12:g.227057451G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly846Ser	rs1431303701	missense variant	-	NC_000002.12:g.227057448C>T	TOPMed,gnomAD
COL4A4	P53420	p.Ala850Val	RCV000449584	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227056112G>A	ClinVar
COL4A4	P53420	p.Ala850Val	rs758199486	missense variant	-	NC_000002.12:g.227056112G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro851Ser	rs1186965101	missense variant	-	NC_000002.12:g.227056110G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro851Ser	rs1186965101	missense variant	-	NC_000002.12:g.227056110G>A	gnomAD
COL4A4	P53420	p.Gly853Glu	COSM3578407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056103C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly853Arg	rs752296059	missense variant	-	NC_000002.12:g.227056104C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly855Arg	rs1397058659	missense variant	-	NC_000002.12:g.227056098C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly855Arg	rs1397058659	missense variant	-	NC_000002.12:g.227056098C>T	TOPMed
COL4A4	P53420	p.Pro857Leu	rs533602128	missense variant	-	NC_000002.12:g.227056091G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly858Arg	rs1488202851	missense variant	-	NC_000002.12:g.227056089C>T	gnomAD
COL4A4	P53420	p.Val860Gly	rs776182609	missense variant	-	NC_000002.12:g.227056082A>C	ExAC,gnomAD
COL4A4	P53420	p.Val860Ala	rs776182609	missense variant	-	NC_000002.12:g.227056082A>G	ExAC,gnomAD
COL4A4	P53420	p.Pro862Thr	rs1211933950	missense variant	-	NC_000002.12:g.227056077G>T	gnomAD
COL4A4	P53420	p.Pro862Arg	rs765863709	missense variant	-	NC_000002.12:g.227056076G>C	ExAC,gnomAD
COL4A4	P53420	p.Pro863Ser	rs773858171	missense variant	-	NC_000002.12:g.227056074G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro863His	rs1405239064	missense variant	-	NC_000002.12:g.227056073G>T	TOPMed
COL4A4	P53420	p.Gly864Trp	COSM574033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056071C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly864Glu	COSM5934490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056070C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly864Arg	RCV000665368	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227056071C>T	ClinVar
COL4A4	P53420	p.Gly864Arg	rs937550597	missense variant	-	NC_000002.12:g.227056071C>T	gnomAD
COL4A4	P53420	p.Pro865Thr	rs762302461	missense variant	-	NC_000002.12:g.227056068G>T	ExAC,gnomAD
COL4A4	P53420	p.Gly867Arg	COSM6157237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056062C>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly867Arg	rs768902127	missense variant	-	NC_000002.12:g.227056062C>T	ExAC,gnomAD
COL4A4	P53420	p.Met868Thr	rs1323986358	missense variant	-	NC_000002.12:g.227056058A>G	gnomAD
COL4A4	P53420	p.Lys869Asn	rs1406834186	missense variant	-	NC_000002.12:g.227056054T>G	gnomAD
COL4A4	P53420	p.Gly870Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227056052C>A	NCI-TCGA
COL4A4	P53420	p.Gly873Arg	rs929684384	missense variant	-	NC_000002.12:g.227056044C>T	NCI-TCGA
COL4A4	P53420	p.Gly873Arg	rs929684384	missense variant	-	NC_000002.12:g.227056044C>T	TOPMed
COL4A4	P53420	p.Leu874Phe	COSM3909728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227056041G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Leu874Ile	rs1425859536	missense variant	-	NC_000002.12:g.227056041G>T	TOPMed,gnomAD
COL4A4	P53420	p.Pro875Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227056037G>A	NCI-TCGA
COL4A4	P53420	p.Arg877Gln	RCV000364192	missense variant	Alport syndrome	NC_000002.12:g.227056031C>T	ClinVar
COL4A4	P53420	p.Arg877Trp	rs55948916	missense variant	-	NC_000002.12:g.227056032G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg877Trp	rs55948916	missense variant	-	NC_000002.12:g.227056032G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg877Gln	rs150979437	missense variant	-	NC_000002.12:g.227056031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala880Ter	RCV000509590	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227056022_227056023del	ClinVar
COL4A4	P53420	p.Ala880Thr	rs920502780	missense variant	-	NC_000002.12:g.227056023C>T	TOPMed
COL4A4	P53420	p.Ala880Glu	rs754644077	missense variant	-	NC_000002.12:g.227056022G>T	ExAC
COL4A4	P53420	p.Ala880Ter	RCV000665226	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227056026del	ClinVar
COL4A4	P53420	p.Pro883Leu	rs866023922	missense variant	-	NC_000002.12:g.227056013G>A	gnomAD
COL4A4	P53420	p.Pro883Ser	rs200761108	missense variant	-	NC_000002.12:g.227056014G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro883Thr	rs200761108	missense variant	-	NC_000002.12:g.227056014G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly885Asp	rs1425028482	missense variant	-	NC_000002.12:g.227056007C>T	NCI-TCGA
COL4A4	P53420	p.Gly885ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227056008_227056009insT	NCI-TCGA
COL4A4	P53420	p.Gly885Asp	rs1425028482	missense variant	-	NC_000002.12:g.227056007C>T	TOPMed
COL4A4	P53420	p.Gly888Arg	RCV000505643	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227055999C>T	ClinVar
COL4A4	P53420	p.Gly888Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227055998C>T	NCI-TCGA
COL4A4	P53420	p.Gly888Arg	rs1363277825	missense variant	-	NC_000002.12:g.227055999C>T	TOPMed
COL4A4	P53420	p.Pro890Ala	rs762460101	missense variant	-	NC_000002.12:g.227055993G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro890Ser	rs762460101	missense variant	-	NC_000002.12:g.227055993G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro892Leu	COSM3578405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227055986G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro892His	rs774847155	missense variant	-	NC_000002.12:g.227055986G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly894Glu	COSM3578404	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227055980C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly897Glu	RCV000666567	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227055971C>T	ClinVar
COL4A4	P53420	p.Gly897Glu	rs121912860	missense variant	-	NC_000002.12:g.227055971C>T	TOPMed
COL4A4	P53420	p.Gly897Glu	rs121912860	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227055971C>T	UniProt,dbSNP
COL4A4	P53420	p.Gly897Glu	VAR_001912	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227055971C>T	UniProt
COL4A4	P53420	p.Leu898Ile	COSM1017293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227055969G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro899Arg	rs957909859	missense variant	-	NC_000002.12:g.227055965G>C	gnomAD
COL4A4	P53420	p.Pro899Ser	rs987568149	missense variant	-	NC_000002.12:g.227055966G>A	TOPMed
COL4A4	P53420	p.Pro899Leu	rs957909859	missense variant	-	NC_000002.12:g.227055965G>A	gnomAD
COL4A4	P53420	p.Gly900Ala	rs1296045337	missense variant	-	NC_000002.12:g.227055962C>G	TOPMed
COL4A4	P53420	p.Pro901Ala	rs868307078	missense variant	-	NC_000002.12:g.227055960G>C	TOPMed
COL4A4	P53420	p.Pro901Ser	rs868307078	missense variant	-	NC_000002.12:g.227055960G>A	TOPMed
COL4A4	P53420	p.Pro904Ala	rs201108212	missense variant	-	NC_000002.12:g.227055951G>C	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Gly906Arg	rs1325550228	missense variant	-	NC_000002.12:g.227055945C>T	gnomAD
COL4A4	P53420	p.Pro907Ser	rs749931284	missense variant	-	NC_000002.12:g.227054735G>A	ExAC,TOPMed
COL4A4	P53420	p.Pro907Thr	rs749931284	missense variant	-	NC_000002.12:g.227054735G>T	ExAC,TOPMed
COL4A4	P53420	p.Arg908Trp	rs767194693	missense variant	-	NC_000002.12:g.227054732G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg908Gln	rs762409067	missense variant	-	NC_000002.12:g.227054731C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg908Trp	rs767194693	missense variant	-	NC_000002.12:g.227054732G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu910Arg	rs1381828124	missense variant	-	NC_000002.12:g.227054725A>C	gnomAD
COL4A4	P53420	p.Pro911Arg	rs764465049	missense variant	-	NC_000002.12:g.227054722G>C	ExAC,gnomAD
COL4A4	P53420	p.Pro911Ser	rs1368366310	missense variant	-	NC_000002.12:g.227054723G>A	TOPMed
COL4A4	P53420	p.Gly912Ser	rs1553640846	missense variant	-	NC_000002.12:g.227054720C>T	-
COL4A4	P53420	p.Gly912Ser	RCV000658121	missense variant	-	NC_000002.12:g.227054720C>T	ClinVar
COL4A4	P53420	p.Phe913Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227054715G>T	NCI-TCGA
COL4A4	P53420	p.Pro914Gln	rs1469234661	missense variant	-	NC_000002.12:g.227054713G>T	gnomAD
COL4A4	P53420	p.Pro917Ser	rs1237546505	missense variant	-	NC_000002.12:g.227054705G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro917Ser	rs1237546505	missense variant	-	NC_000002.12:g.227054705G>A	gnomAD
COL4A4	P53420	p.Gly918Arg	rs372606845	missense variant	-	NC_000002.12:g.227054702C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Gly918Arg	rs372606845	missense variant	-	NC_000002.12:g.227054702C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu919Lys	COSM3578402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054699C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Glu919Gly	RCV000735696	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227054698T>C	ClinVar
COL4A4	P53420	p.Glu919Gly	rs753208968	missense variant	-	NC_000002.12:g.227054698T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg920Ile	COSM1405934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054695C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg920Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227054695C>G	NCI-TCGA
COL4A4	P53420	p.Gly921Arg	COSM3909727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054693C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Lys922Asn	rs377626576	missense variant	-	NC_000002.12:g.227054688C>G	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu926Lys	rs771064865	missense variant	-	NC_000002.12:g.227054678C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly927Glu	COSM4092068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054674C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Cys928Arg	rs1307409094	missense variant	-	NC_000002.12:g.227054672A>G	gnomAD
COL4A4	P53420	p.Pro929Ser	COSM4092067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054669G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly930Asp	COSM1017291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054665C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly930Ser	rs748011297	missense variant	-	NC_000002.12:g.227054666C>T	ExAC,gnomAD
COL4A4	P53420	p.Ala931Thr	rs75875272	missense variant	-	NC_000002.12:g.227054663C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala931Thr	rs75875272	missense variant	-	NC_000002.12:g.227054663C>T	UniProt,dbSNP
COL4A4	P53420	p.Ala931Thr	VAR_008151	missense variant	-	NC_000002.12:g.227054663C>T	UniProt
COL4A4	P53420	p.Ala931Val	rs940183582	missense variant	-	NC_000002.12:g.227054662G>A	TOPMed
COL4A4	P53420	p.Ala931Thr	RCV000604388	missense variant	-	NC_000002.12:g.227054663C>T	ClinVar
COL4A4	P53420	p.Ala931Ser	rs75875272	missense variant	-	NC_000002.12:g.227054663C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly933Arg	rs745586762	missense variant	-	NC_000002.12:g.227054657C>G	ExAC,gnomAD
COL4A4	P53420	p.Pro935Leu	rs201901241	missense variant	-	NC_000002.12:g.227054650G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro935His	rs201901241	missense variant	-	NC_000002.12:g.227054650G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu937Lys	COSM3578401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054645C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Met940Thr	rs752058872	missense variant	-	NC_000002.12:g.227054635A>G	ExAC,gnomAD
COL4A4	P53420	p.Met940Ile	rs1399760920	missense variant	-	NC_000002.12:g.227054634C>T	gnomAD
COL4A4	P53420	p.Ser941Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227054632G>A	NCI-TCGA
COL4A4	P53420	p.Leu943Ter	RCV000681900	frameshift	-	NC_000002.12:g.227054628_227054629insTG	ClinVar
COL4A4	P53420	p.Pro944Thr	COSM477008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227054624G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly945Arg	rs1303057809	missense variant	-	NC_000002.12:g.227054621C>T	gnomAD
COL4A4	P53420	p.Arg947Gln	rs373540400	missense variant	-	NC_000002.12:g.227054614C>T	NCI-TCGA
COL4A4	P53420	p.Arg947Gln	rs373540400	missense variant	-	NC_000002.12:g.227054614C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg947Trp	rs572872038	missense variant	-	NC_000002.12:g.227054615G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg947Gln	RCV000673027	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227054614C>T	ClinVar
COL4A4	P53420	p.Gly948Val	rs752977862	missense variant	-	NC_000002.12:g.227054611C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly948Ala	rs752977862	missense variant	-	NC_000002.12:g.227054611C>G	ExAC,gnomAD
COL4A4	P53420	p.Leu949Gln	rs779716354	missense variant	-	NC_000002.12:g.227054608A>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu949Arg	rs779716354	missense variant	-	NC_000002.12:g.227054608A>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu949Pro	rs779716354	missense variant	-	NC_000002.12:g.227054608A>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly951Trp	rs1194269620	missense variant	-	NC_000002.12:g.227054603C>A	gnomAD
COL4A4	P53420	p.Ala952Val	rs766386122	missense variant	-	NC_000002.12:g.227054599G>A	NCI-TCGA
COL4A4	P53420	p.Ala952Val	rs766386122	missense variant	-	NC_000002.12:g.227054599G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala952Gly	rs766386122	missense variant	-	NC_000002.12:g.227054599G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala952Ser	rs867280793	missense variant	-	NC_000002.12:g.227054600C>A	TOPMed
COL4A4	P53420	p.Ala952Thr	rs867280793	missense variant	-	NC_000002.12:g.227054600C>T	TOPMed
COL4A4	P53420	p.Gly954Glu	COSM3578400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227052412C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly954Ter	COSM4092066	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227054594C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly957Ter	COSM1017290	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227052404C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly957Val	RCV000681725	missense variant	-	NC_000002.12:g.227052403C>A	ClinVar
COL4A4	P53420	p.Gly960Arg	RCV000710842	missense variant	-	NC_000002.12:g.227052395C>T	ClinVar
COL4A4	P53420	p.Gly960Arg	rs769783985	missense variant	-	NC_000002.12:g.227052395C>T	TOPMed,gnomAD
COL4A4	P53420	p.Gly960Arg	rs769783985	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227052395C>T	UniProt,dbSNP
COL4A4	P53420	p.Gly960Arg	VAR_031624	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227052395C>T	UniProt
COL4A4	P53420	p.Asp961His	rs758813778	missense variant	-	NC_000002.12:g.227052392C>G	ExAC,gnomAD
COL4A4	P53420	p.Asp961Gly	rs753311400	missense variant	-	NC_000002.12:g.227052391T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly963Glu	rs1396467090	missense variant	-	NC_000002.12:g.227052385C>T	TOPMed
COL4A4	P53420	p.Glu964Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227052383C>T	NCI-TCGA
COL4A4	P53420	p.Ala966Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227052377C>T	NCI-TCGA
COL4A4	P53420	p.Ala966Val	rs1220486993	missense variant	-	NC_000002.12:g.227052376G>A	gnomAD
COL4A4	P53420	p.Ile967Val	RCV000352823	missense variant	Alport syndrome	NC_000002.12:g.227052374T>C	ClinVar
COL4A4	P53420	p.Ile967Val	rs80243096	missense variant	-	NC_000002.12:g.227052374T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ile968Val	rs766076896	missense variant	-	NC_000002.12:g.227052371T>C	TOPMed,gnomAD
COL4A4	P53420	p.Ser969Ter	RCV000522361	nonsense	-	NC_000002.12:g.227052367G>C	ClinVar
COL4A4	P53420	p.Ser969Ter	RCV000763076	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227052367G>C	ClinVar
COL4A4	P53420	p.Ser969Ter	rs35138315	stop gained	-	NC_000002.12:g.227052367G>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln970Ter	rs372413045	stop gained	-	NC_000002.12:g.227052365G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln970Glu	rs372413045	missense variant	-	NC_000002.12:g.227052365G>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly972Arg	rs767704202	missense variant	-	NC_000002.12:g.227052359C>T	ExAC,gnomAD
COL4A4	P53420	p.Thr973Ile	rs1466685743	missense variant	-	NC_000002.12:g.227052355G>A	gnomAD
COL4A4	P53420	p.Thr973Ile	rs1466685743	missense variant	-	NC_000002.12:g.227052355G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly975Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227052349C>A	NCI-TCGA
COL4A4	P53420	p.Gly975Arg	rs1169633213	missense variant	-	NC_000002.12:g.227052350C>T	gnomAD
COL4A4	P53420	p.Pro977Leu	COSM4092065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227052343G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro977Ala	rs769300622	missense variant	-	NC_000002.12:g.227052344G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly978Arg	rs759439914	missense variant	-	NC_000002.12:g.227052341C>T	ExAC,gnomAD
COL4A4	P53420	p.Pro980Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227052335G>T	NCI-TCGA
COL4A4	P53420	p.Pro980Arg	rs199772236	missense variant	-	NC_000002.12:g.227052334G>C	gnomAD
COL4A4	P53420	p.Asp982Gly	rs776605007	missense variant	-	NC_000002.12:g.227052328T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu988Gly	RCV000592130	missense variant	-	NC_000002.12:g.227052310T>C	ClinVar
COL4A4	P53420	p.Glu988Gly	rs1200638480	missense variant	-	NC_000002.12:g.227052310T>C	gnomAD
COL4A4	P53420	p.Gly990Ala	rs759591544	missense variant	-	NC_000002.12:g.227051158C>G	ExAC,gnomAD
COL4A4	P53420	p.Gly990Asp	rs759591544	missense variant	-	NC_000002.12:g.227051158C>T	ExAC,gnomAD
COL4A4	P53420	p.Asp991Asn	COSM3578399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051156C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly993Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227051149C>T	NCI-TCGA
COL4A4	P53420	p.Pro995Ser	rs932615071	missense variant	-	NC_000002.12:g.227051144G>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly996Arg	RCV000207754	missense variant	Benign familial hematuria (BFH)	NC_000002.12:g.227051141C>T	ClinVar
COL4A4	P53420	p.Gly996Arg	rs370474706	missense variant	-	NC_000002.12:g.227051141C>T	NCI-TCGA
COL4A4	P53420	p.Gly996Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227051140C>T	NCI-TCGA
COL4A4	P53420	p.Gly996Trp	rs370474706	missense variant	-	NC_000002.12:g.227051141C>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly996Arg	rs370474706	missense variant	-	NC_000002.12:g.227051141C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Met997Arg	rs1274307934	missense variant	-	NC_000002.12:g.227051137A>C	TOPMed
COL4A4	P53420	p.Gly999Glu	RCV000246929	missense variant	-	NC_000002.12:g.227051131C>T	ClinVar
COL4A4	P53420	p.Gly999Glu	rs13027659	missense variant	-	NC_000002.12:g.227051131C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly999Glu	rs13027659	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227051131C>T	UniProt,dbSNP
COL4A4	P53420	p.Gly999Glu	VAR_031625	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227051131C>T	UniProt
COL4A4	P53420	p.Glu1003Ala	rs1310963588	missense variant	-	NC_000002.12:g.227051119T>G	gnomAD
COL4A4	P53420	p.Pro1004Leu	RCV000389933	missense variant	Alport syndrome	NC_000002.12:g.227051116G>A	ClinVar
COL4A4	P53420	p.Pro1004Leu	RCV000251893	missense variant	-	NC_000002.12:g.227051116G>A	ClinVar
COL4A4	P53420	p.Pro1004Leu	RCV000576626	missense variant	-	NC_000002.12:g.227051116G>A	ClinVar
COL4A4	P53420	p.Pro1004Gln	rs1800517	missense variant	-	NC_000002.12:g.227051116G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1004Leu	rs1800517	missense variant	-	NC_000002.12:g.227051116G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1005Glu	rs769138971	missense variant	-	NC_000002.12:g.227051113C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1006Lys	COSM3909726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051110C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg1006Ile	rs1451901507	missense variant	-	NC_000002.12:g.227051110C>A	gnomAD
COL4A4	P53420	p.Arg1006Ser	rs531161419	missense variant	-	NC_000002.12:g.227051109T>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Tyr1007His	rs780331862	missense variant	-	NC_000002.12:g.227051108A>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1008Arg	RCV000667417	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227051105C>T	ClinVar
COL4A4	P53420	p.Gly1008Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227051104C>T	NCI-TCGA
COL4A4	P53420	p.Gly1008Arg	rs371172166	missense variant	-	NC_000002.12:g.227051105C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1010Arg	rs201227345	missense variant	-	NC_000002.12:g.227051098G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1010Leu	rs201227345	missense variant	-	NC_000002.12:g.227051098G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1011Glu	COSM3578397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051095C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.His1013Tyr	rs751663801	missense variant	-	NC_000002.12:g.227051090G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.His1013Tyr	rs751663801	missense variant	-	NC_000002.12:g.227051090G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1014Ser	rs1265801605	missense variant	-	NC_000002.12:g.227051085T>A	gnomAD
COL4A4	P53420	p.Gly1015Glu	rs764323652	missense variant	-	NC_000002.12:g.227051083C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1015Glu	RCV000673247	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227051083C>T	ClinVar
COL4A4	P53420	p.Gly1018Arg	rs533469199	missense variant	-	NC_000002.12:g.227051075C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1018Ala	rs1259742546	missense variant	-	NC_000002.12:g.227051074C>G	gnomAD
COL4A4	P53420	p.Glu1019Gln	RCV000415007	missense variant	Hypertension	NC_000002.12:g.227051072C>G	ClinVar
COL4A4	P53420	p.Glu1019Gln	rs1057518854	missense variant	-	NC_000002.12:g.227051072C>G	-
COL4A4	P53420	p.Lys1020Gln	rs1244937877	missense variant	-	NC_000002.12:g.227051069T>G	gnomAD
COL4A4	P53420	p.Gly1021Arg	rs1164069094	missense variant	-	NC_000002.12:g.227051066C>G	TOPMed
COL4A4	P53420	p.Pro1023Ser	COSM272524	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051060G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1025Arg	COSM1326375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051053G>C	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1025Thr	rs753828699	missense variant	-	NC_000002.12:g.227051054G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1026Ser	rs1198659988	missense variant	-	NC_000002.12:g.227051051G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1026Ser	rs1198659988	missense variant	-	NC_000002.12:g.227051051G>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly1027Glu	COSM1531076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051047C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1027Ala	rs766028963	missense variant	-	NC_000002.12:g.227051047C>G	ExAC,gnomAD
COL4A4	P53420	p.Pro1028Leu	rs1403780482	missense variant	-	NC_000002.12:g.227051044G>A	TOPMed
COL4A4	P53420	p.Pro1029Ser	rs760539669	missense variant	-	NC_000002.12:g.227051042G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1030Asp	RCV000505652	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227051038C>T	ClinVar
COL4A4	P53420	p.Gly1030Val	RCV000668043	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227051038C>A	ClinVar
COL4A4	P53420	p.Gly1030Val	rs772699709	missense variant	-	NC_000002.12:g.227051038C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1030Val	rs772699709	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227051038C>A	UniProt,dbSNP
COL4A4	P53420	p.Gly1030Val	VAR_008153	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227051038C>A	UniProt
COL4A4	P53420	p.Gly1030Asp	rs772699709	missense variant	-	NC_000002.12:g.227051038C>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1031Thr	COSM720454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051036G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Ser1034Pro	COSM3578395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051027A>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Thr1035Ala	RCV000625560	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227051024T>C	ClinVar
COL4A4	P53420	p.Thr1035Ala	rs1553638898	missense variant	-	NC_000002.12:g.227051024T>C	-
COL4A4	P53420	p.Gly1036Val	rs767166460	missense variant	-	NC_000002.12:g.227051020C>A	ExAC,gnomAD
COL4A4	P53420	p.Leu1037Ter	RCV000681896	frameshift	-	NC_000002.12:g.227051018_227051019del	ClinVar
COL4A4	P53420	p.Arg1038Lys	COSM3578394	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227051014C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg1038Gly	rs770930167	missense variant	-	NC_000002.12:g.227051015T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1039Arg	rs1245186753	missense variant	-	NC_000002.12:g.227051012C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1039Arg	rs1245186753	missense variant	-	NC_000002.12:g.227051012C>T	TOPMed
COL4A4	P53420	p.Phe1040Leu	rs1478442466	missense variant	-	NC_000002.12:g.227051009A>G	gnomAD
COL4A4	P53420	p.Phe1040Leu	rs749738744	missense variant	-	NC_000002.12:g.227051007G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1042Val	rs1208856562	missense variant	-	NC_000002.12:g.227051002C>A	TOPMed
COL4A4	P53420	p.Pro1044Ser	rs1007654771	missense variant	-	NC_000002.12:g.227050997G>A	-
COL4A4	P53420	p.Pro1044Ser	rs1007654771	missense variant	-	NC_000002.12:g.227050997G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Leu1046Pro	rs1191531524	missense variant	-	NC_000002.12:g.227050990A>G	gnomAD
COL4A4	P53420	p.Pro1047Ser	rs776002982	missense variant	-	NC_000002.12:g.227050988G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1047Ser	rs776002982	missense variant	-	NC_000002.12:g.227050988G>A	ExAC,gnomAD
COL4A4	P53420	p.Asp1049Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227050981T>C	NCI-TCGA
COL4A4	P53420	p.Gln1050Ter	rs1260668396	stop gained	-	NC_000002.12:g.227050979G>A	gnomAD
COL4A4	P53420	p.Gly1051Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227050130C>A	NCI-TCGA
COL4A4	P53420	p.Gly1051Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227050131C>A	NCI-TCGA
COL4A4	P53420	p.Gly1051Ser	rs1161763333	missense variant	-	NC_000002.12:g.227050131C>T	gnomAD
COL4A4	P53420	p.Gly1051Ser	rs1161763333	missense variant	-	NC_000002.12:g.227050131C>T	NCI-TCGA
COL4A4	P53420	p.Glu1052Ala	COSM1405933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227050127T>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Ser1055Cys	rs553814126	missense variant	-	NC_000002.12:g.227050118G>C	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Pro1056Ala	rs902831328	missense variant	-	NC_000002.12:g.227050116G>C	TOPMed
COL4A4	P53420	p.Gly1057Cys	rs774907866	missense variant	-	NC_000002.12:g.227050113C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1057Ser	rs774907866	missense variant	-	NC_000002.12:g.227050113C>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1058Thr	rs770315777	missense variant	-	NC_000002.12:g.227050110G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1059LeuPheSerTerUnkUnk	COSM3047044	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227050106G>-	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1059Ala	COSM3578390	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227050107G>C	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1060Val	rs1409898186	missense variant	-	NC_000002.12:g.227050103C>A	gnomAD
COL4A4	P53420	p.Ile1064Thr	rs777045098	missense variant	-	NC_000002.12:g.227050091A>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ile1064Val	rs746417033	missense variant	-	NC_000002.12:g.227050092T>C	ExAC
COL4A4	P53420	p.Asp1065Glu	rs541835572	missense variant	-	NC_000002.12:g.227050087A>T	1000Genomes,gnomAD
COL4A4	P53420	p.Gly1066Val	rs771202106	missense variant	-	NC_000002.12:g.227050085C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1066Ter	rs1333536476	stop gained	-	NC_000002.12:g.227050086C>A	TOPMed
COL4A4	P53420	p.Ala1067Gly	rs1392922149	missense variant	-	NC_000002.12:g.227050082G>C	gnomAD
COL4A4	P53420	p.Gly1072Ter	COSM1326376	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227050068C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1072Arg	rs1192591713	missense variant	-	NC_000002.12:g.227050068C>T	gnomAD
COL4A4	P53420	p.Gly1072Glu	rs1295713821	missense variant	-	NC_000002.12:g.227047549C>T	gnomAD
COL4A4	P53420	p.Gly1072Glu	rs1295713821	missense variant	-	NC_000002.12:g.227047549C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asn1073Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227047545G>C	NCI-TCGA
COL4A4	P53420	p.Gly1075Ter	RCV000018953	frameshift	Benign familial hematuria (BFH)	NC_000002.12:g.227047544dup	ClinVar
COL4A4	P53420	p.Gly1075Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227047540C>T	NCI-TCGA
COL4A4	P53420	p.Gly1075Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227047541C>T	NCI-TCGA
COL4A4	P53420	p.Asp1076Ala	rs772400302	missense variant	-	NC_000002.12:g.227047537T>G	ExAC,gnomAD
COL4A4	P53420	p.Ala1078Val	RCV000604963	missense variant	-	NC_000002.12:g.227047531G>A	ClinVar
COL4A4	P53420	p.Ala1078Thr	rs77277077	missense variant	-	NC_000002.12:g.227047532C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1078Val	rs79143859	missense variant	-	NC_000002.12:g.227047531G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ser1079Gly	rs768632760	missense variant	-	NC_000002.12:g.227047529T>C	ExAC,gnomAD
COL4A4	P53420	p.Ser1079Asn	rs1346643218	missense variant	-	NC_000002.12:g.227047528C>T	gnomAD
COL4A4	P53420	p.Pro1083Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227047517G>T	NCI-TCGA
COL4A4	P53420	p.Pro1083Leu	rs1248447789	missense variant	-	NC_000002.12:g.227047516G>A	TOPMed,gnomAD
COL4A4	P53420	p.Pro1084Leu	rs1412136320	missense variant	-	NC_000002.12:g.227047513G>A	TOPMed
COL4A4	P53420	p.Pro1086Ser	rs1286834392	missense variant	-	NC_000002.12:g.227047508G>A	TOPMed
COL4A4	P53420	p.Lys1087Thr	rs745770378	missense variant	-	NC_000002.12:g.227047504T>G	ExAC,gnomAD
COL4A4	P53420	p.Glu1089Lys	rs1328768228	missense variant	-	NC_000002.12:g.227047499C>T	TOPMed
COL4A4	P53420	p.Cys1095Trp	rs908532580	missense variant	-	NC_000002.12:g.227047479A>C	TOPMed,gnomAD
COL4A4	P53420	p.Cys1095Tyr	rs1257866975	missense variant	-	NC_000002.12:g.227047480C>T	TOPMed
COL4A4	P53420	p.Phe1099Ser	rs1430145246	missense variant	-	NC_000002.12:g.227043178A>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly1100Arg	rs1229097842	missense variant	-	NC_000002.12:g.227043176C>G	gnomAD
COL4A4	P53420	p.Gly1103Arg	RCV000666144	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227043167C>T	ClinVar
COL4A4	P53420	p.Gly1103Glu	rs780160887	missense variant	-	NC_000002.12:g.227043166C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly1103Arg	rs749299357	missense variant	-	NC_000002.12:g.227043167C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1103Ala	rs780160887	missense variant	-	NC_000002.12:g.227043166C>G	ExAC,gnomAD
COL4A4	P53420	p.Glu1104Asp	rs777474133	missense variant	-	NC_000002.12:g.227043162C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu1104Gln	rs781622589	missense variant	-	NC_000002.12:g.227043164C>G	TOPMed
COL4A4	P53420	p.Glu1104Ala	rs770845937	missense variant	-	NC_000002.12:g.227043163T>G	ExAC,gnomAD
COL4A4	P53420	p.Glu1104Lys	rs781622589	missense variant	-	NC_000002.12:g.227043164C>T	TOPMed
COL4A4	P53420	p.Glu1104Asp	rs777474133	missense variant	-	NC_000002.12:g.227043162C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1106Asp	RCV000710845	missense variant	-	NC_000002.12:g.227043157C>T	ClinVar
COL4A4	P53420	p.Gly1106Ser	rs1468072598	missense variant	-	NC_000002.12:g.227043158C>T	gnomAD
COL4A4	P53420	p.Ile1110Val	rs371595632	missense variant	-	NC_000002.12:g.227043146T>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln1111Ter	COSM3578388	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227043143G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1115Ter	COSM260231	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227043131C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1117His	COSM1017287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227043124G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1117Leu	rs1295322368	missense variant	-	NC_000002.12:g.227043124G>A	gnomAD
COL4A4	P53420	p.Gly1118Arg	rs77170039	missense variant	-	NC_000002.12:g.227043122C>T	1000Genomes,gnomAD
COL4A4	P53420	p.Arg1119Ser	rs754697085	missense variant	-	NC_000002.12:g.227043117C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1119Thr	rs1323096940	missense variant	-	NC_000002.12:g.227043118C>G	TOPMed,gnomAD
COL4A4	P53420	p.Arg1119Gly	rs778458961	missense variant	-	NC_000002.12:g.227043119T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1121Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227043113C>T	NCI-TCGA
COL4A4	P53420	p.Pro1122Thr	rs1433426991	missense variant	-	NC_000002.12:g.227043110G>T	TOPMed,gnomAD
COL4A4	P53420	p.Pro1122Leu	rs912045008	missense variant	-	NC_000002.12:g.227043109G>A	TOPMed,gnomAD
COL4A4	P53420	p.Pro1123Leu	rs753264064	missense variant	-	NC_000002.12:g.227043106G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1123Leu	rs753264064	missense variant	-	NC_000002.12:g.227043106G>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1124Ser	rs955111226	missense variant	-	NC_000002.12:g.227043104C>T	TOPMed
COL4A4	P53420	p.Ser1125Phe	COSM3909725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227043100G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Ser1125Tyr	rs766044583	missense variant	-	NC_000002.12:g.227043100G>T	ExAC,gnomAD
COL4A4	P53420	p.Ser1126Thr	rs756683938	missense variant	-	NC_000002.12:g.227043098A>T	ExAC,gnomAD
COL4A4	P53420	p.Ser1126Phe	rs750980978	missense variant	-	NC_000002.12:g.227043097G>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1127Glu	COSM1017286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227043094C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1129Arg	rs762116418	missense variant	-	NC_000002.12:g.227043088G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1129Leu	rs762116418	missense variant	-	NC_000002.12:g.227043088G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Cys1131Phe	rs1178969462	missense variant	-	NC_000002.12:g.227043082C>A	gnomAD
COL4A4	P53420	p.Pro1132Ala	rs367878725	missense variant	-	NC_000002.12:g.227043080G>C	ESP,gnomAD
COL4A4	P53420	p.Pro1132Ser	rs367878725	missense variant	-	NC_000002.12:g.227043080G>A	ESP,gnomAD
COL4A4	P53420	p.Pro1132Leu	VAR_031626	Missense	Hematuria, benign familial (BFH) [MIM:141200]	-	UniProt
COL4A4	P53420	p.Asp1134Gly	rs1417361503	missense variant	-	NC_000002.12:g.227042252T>C	gnomAD
COL4A4	P53420	p.Gly1136Arg	rs749015646	missense variant	-	NC_000002.12:g.227042247C>G	ExAC,gnomAD
COL4A4	P53420	p.Gly1136Ala	rs779653241	missense variant	-	NC_000002.12:g.227042246C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1136Arg	rs749015646	missense variant	-	NC_000002.12:g.227042247C>T	ExAC,gnomAD
COL4A4	P53420	p.Leu1140Val	rs1255850500	missense variant	-	NC_000002.12:g.227042235G>C	TOPMed,gnomAD
COL4A4	P53420	p.Gly1142AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227042228C>-	NCI-TCGA
COL4A4	P53420	p.Pro1144Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227042222G>A	NCI-TCGA
COL4A4	P53420	p.Pro1144Ser	rs1197869884	missense variant	-	NC_000002.12:g.227042223G>A	TOPMed
COL4A4	P53420	p.Gly1145Glu	rs1260916310	missense variant	-	NC_000002.12:g.227042219C>T	TOPMed,gnomAD
COL4A4	P53420	p.Met1147Ile	rs1223467343	missense variant	-	NC_000002.12:g.227042212C>T	TOPMed
COL4A4	P53420	p.Met1147Leu	rs1240622081	missense variant	-	NC_000002.12:g.227042214T>G	TOPMed,gnomAD
COL4A4	P53420	p.Asp1149Glu	rs768108632	missense variant	-	NC_000002.12:g.227042206G>T	ExAC,gnomAD
COL4A4	P53420	p.Gly1151Ala	rs371803356	missense variant	-	NC_000002.12:g.227042201C>G	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1151Arg	rs899227425	missense variant	-	NC_000002.12:g.227042202C>T	TOPMed,gnomAD
COL4A4	P53420	p.Gly1154Asp	rs775698697	missense variant	-	NC_000002.12:g.227042192C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu1155Phe	rs1476281366	missense variant	-	NC_000002.12:g.227042190G>A	TOPMed
COL4A4	P53420	p.Gly1157Arg	COSM3578386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042184C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1157Val	rs1451789108	missense variant	-	NC_000002.12:g.227042183C>A	gnomAD
COL4A4	P53420	p.Asp1158Asn	COSM3047036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042181C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp1158Tyr	COSM4941120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042181C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp1158IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227042181C>-	NCI-TCGA
COL4A4	P53420	p.Pro1159Ser	rs1395462000	missense variant	-	NC_000002.12:g.227042178G>A	NCI-TCGA
COL4A4	P53420	p.Pro1159Ser	rs1395462000	missense variant	-	NC_000002.12:g.227042178G>A	TOPMed
COL4A4	P53420	p.Gly1160Glu	COSM3909724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042174C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1162Leu	rs1247108959	missense variant	-	NC_000002.12:g.227042168G>A	gnomAD
COL4A4	P53420	p.Pro1164Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227042163G>T	NCI-TCGA
COL4A4	P53420	p.Pro1165Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227042160G>T	NCI-TCGA
COL4A4	P53420	p.Pro1165Leu	rs374343979	missense variant	-	NC_000002.12:g.227042159G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1166Glu	COSM5908080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227042156C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1169Ser	rs1447917919	missense variant	-	NC_000002.12:g.227042148C>T	gnomAD
COL4A4	P53420	p.Pro1170Thr	COSM3578385	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227033479G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1170Arg	rs774368416	missense variant	-	NC_000002.12:g.227033478G>C	ExAC,gnomAD
COL4A4	P53420	p.Ser1171Cys	rs370914840	missense variant	-	NC_000002.12:g.227033475G>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1172Ter	rs1364773011	stop gained	-	NC_000002.12:g.227033473C>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly1172Arg	rs1364773011	missense variant	-	NC_000002.12:g.227033473C>T	TOPMed,gnomAD
COL4A4	P53420	p.Gly1172Arg	rs1364773011	missense variant	-	NC_000002.12:g.227033473C>G	TOPMed,gnomAD
COL4A4	P53420	p.Ser1173Leu	rs1483793897	missense variant	-	NC_000002.12:g.227033469G>A	TOPMed
COL4A4	P53420	p.Pro1174Leu	COSM70258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227033466G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1174Ser	rs1304413396	missense variant	-	NC_000002.12:g.227033467G>A	gnomAD
COL4A4	P53420	p.Gly1175Ser	rs769559810	missense variant	-	NC_000002.12:g.227033464C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly1178Ser	rs780504632	missense variant	-	NC_000002.12:g.227033455C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.His1180Asn	rs1166551481	missense variant	-	NC_000002.12:g.227033449G>T	gnomAD
COL4A4	P53420	p.His1180Gln	rs1474988306	missense variant	-	NC_000002.12:g.227033447A>T	TOPMed
COL4A4	P53420	p.Leu1182Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227033441C>A	NCI-TCGA
COL4A4	P53420	p.Leu1182Phe	rs1389215539	missense variant	-	NC_000002.12:g.227033441C>G	TOPMed,gnomAD
COL4A4	P53420	p.Leu1182Ter	rs527832060	stop gained	-	NC_000002.12:g.227033442A>T	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Lys1183Arg	rs374638599	missense variant	-	NC_000002.12:g.227033439T>C	ESP,ExAC,gnomAD
COL4A4	P53420	p.Lys1186Arg	rs1455243860	missense variant	-	NC_000002.12:g.227033430T>C	gnomAD
COL4A4	P53420	p.Gly1187Arg	COSM3909723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227033428C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1187Val	rs1197476541	missense variant	-	NC_000002.12:g.227033427C>A	gnomAD
COL4A4	P53420	p.Gly1190Asp	rs1274978546	missense variant	-	NC_000002.12:g.227033418C>T	gnomAD
COL4A4	P53420	p.Gly1190Cys	rs758940930	missense variant	-	NC_000002.12:g.227033419C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1190Ser	rs758940930	missense variant	-	NC_000002.12:g.227033419C>T	ExAC,gnomAD
COL4A4	P53420	p.Ala1191Val	rs1193908235	missense variant	-	NC_000002.12:g.227033415G>A	gnomAD
COL4A4	P53420	p.Gly1193Cys	RCV000710847	missense variant	-	NC_000002.12:g.227033410C>A	ClinVar
COL4A4	P53420	p.Gly1193Val	rs776364771	missense variant	-	NC_000002.12:g.227032276C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1193Arg	rs1158350974	missense variant	-	NC_000002.12:g.227033410C>G	TOPMed
COL4A4	P53420	p.Leu1194Ser	rs554736387	missense variant	-	NC_000002.12:g.227032273A>G	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.His1195Tyr	rs746500135	missense variant	-	NC_000002.12:g.227032271G>A	ExAC,gnomAD
COL4A4	P53420	p.Asp1196Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227032268C>A	NCI-TCGA
COL4A4	P53420	p.Val1197Ala	rs946572297	missense variant	-	NC_000002.12:g.227032264A>G	TOPMed
COL4A4	P53420	p.Gly1198Arg	rs1278360882	missense variant	-	NC_000002.12:g.227032262C>T	NCI-TCGA
COL4A4	P53420	p.Gly1198Arg	rs1278360882	missense variant	-	NC_000002.12:g.227032262C>T	gnomAD
COL4A4	P53420	p.Gly1201Asp	rs1315209980	missense variant	-	NC_000002.12:g.227032252C>T	gnomAD
COL4A4	P53420	p.Gly1201Ser	RCV000018947	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227032253C>T	ClinVar
COL4A4	P53420	p.Gly1201Ser	rs121912858	missense variant	-	NC_000002.12:g.227032253C>T	-
COL4A4	P53420	p.Gly1201Ser	rs121912858	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227032253C>T	UniProt,dbSNP
COL4A4	P53420	p.Gly1201Ser	VAR_001913	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227032253C>T	UniProt
COL4A4	P53420	p.Pro1202Leu	rs779182761	missense variant	-	NC_000002.12:g.227032249G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val1203Ala	rs377266142	missense variant	-	NC_000002.12:g.227032246A>G	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1204Glu	COSM3578383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227032243C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Leu1208Val	rs780290586	missense variant	-	NC_000002.12:g.227032232G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu1211Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227032221C>G	NCI-TCGA
COL4A4	P53420	p.Glu1211Ala	rs1472238633	missense variant	-	NC_000002.12:g.227032222T>G	gnomAD
COL4A4	P53420	p.Glu1211Lys	rs750501128	missense variant	-	NC_000002.12:g.227032223C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu1211Asp	rs767770757	missense variant	-	NC_000002.12:g.227032221C>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1212Gly	rs374164087	missense variant	-	NC_000002.12:g.227032220T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1213Val	RCV000735722	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227032216C>A	ClinVar
COL4A4	P53420	p.Asp1214Glu	rs1213324947	missense variant	-	NC_000002.12:g.227032212G>T	TOPMed
COL4A4	P53420	p.Pro1215Ser	rs765071781	missense variant	-	NC_000002.12:g.227032211G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1215Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227032211G>T	NCI-TCGA
COL4A4	P53420	p.Pro1215Leu	rs189847470	missense variant	-	NC_000002.12:g.227032210G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1215Ser	rs765071781	missense variant	-	NC_000002.12:g.227032211G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro1218Ser	rs1448886711	missense variant	-	NC_000002.12:g.227032202G>A	gnomAD
COL4A4	P53420	p.Gly1219Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227032199C>A	NCI-TCGA
COL4A4	P53420	p.Ile1220Val	rs766035577	missense variant	-	NC_000002.12:g.227032196T>C	ExAC,gnomAD
COL4A4	P53420	p.Pro1222Leu	rs377230950	missense variant	-	NC_000002.12:g.227032189G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1223Leu	rs748597555	missense variant	-	NC_000002.12:g.227032186G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1223Ser	rs771575941	missense variant	-	NC_000002.12:g.227032187G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro1225Leu	rs1431031337	missense variant	-	NC_000002.12:g.227032180G>A	TOPMed,gnomAD
COL4A4	P53420	p.Arg1226Gly	rs769191749	missense variant	-	NC_000002.12:g.227032178G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1226Cys	rs769191749	missense variant	-	NC_000002.12:g.227032178G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1226His	rs751169399	missense variant	-	NC_000002.12:g.227032177C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1226Cys	rs769191749	missense variant	-	NC_000002.12:g.227032178G>A	NCI-TCGA
COL4A4	P53420	p.Lys1228Met	rs1456222789	missense variant	-	NC_000002.12:g.227032171T>A	gnomAD
COL4A4	P53420	p.Lys1229Arg	rs756353061	missense variant	-	NC_000002.12:g.227032168T>C	ExAC,gnomAD
COL4A4	P53420	p.Gly1230ValPheSerTerUnkUnk	COSM1405931	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227032170C>-	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1230Ser	rs781360383	missense variant	-	NC_000002.12:g.227032166C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1230Ser	rs781360383	missense variant	-	NC_000002.12:g.227032166C>T	ExAC
COL4A4	P53420	p.Pro1231Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227032163G>A	NCI-TCGA
COL4A4	P53420	p.Pro1232Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227032160G>A	NCI-TCGA
COL4A4	P53420	p.Gly1233Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227032156C>T	NCI-TCGA
COL4A4	P53420	p.Pro1234Ser	rs757430966	missense variant	-	NC_000002.12:g.227032154G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1234Ser	rs757430966	missense variant	-	NC_000002.12:g.227032154G>A	ExAC,gnomAD
COL4A4	P53420	p.Ser1238Ter	RCV000018948	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227032049G>T	ClinVar
COL4A4	P53420	p.Ser1238Ter	rs121912859	stop gained	-	NC_000002.12:g.227032049G>T	-
COL4A4	P53420	p.Gly1239Ala	rs1394140383	missense variant	-	NC_000002.12:g.227032046C>G	TOPMed
COL4A4	P53420	p.Pro1240Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227032043G>A	NCI-TCGA
COL4A4	P53420	p.Pro1240Thr	rs1429970817	missense variant	-	NC_000002.12:g.227032044G>T	TOPMed
COL4A4	P53420	p.Pro1241Leu	rs781591540	missense variant	-	NC_000002.12:g.227032040G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro1241Ser	rs746049853	missense variant	-	NC_000002.12:g.227032041G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro1243Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227032034G>A	NCI-TCGA
COL4A4	P53420	p.Pro1243Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227032035G>A	NCI-TCGA
COL4A4	P53420	p.Ala1244Thr	rs946603420	missense variant	-	NC_000002.12:g.227032032C>T	TOPMed,gnomAD
COL4A4	P53420	p.Gly1245Val	rs1189502123	missense variant	-	NC_000002.12:g.227032028C>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly1245Val	RCV000516720	missense variant	-	NC_000002.12:g.227032028C>A	ClinVar
COL4A4	P53420	p.Gly1248Glu	rs548799639	missense variant	-	NC_000002.12:g.227032019C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1248Arg	rs867439682	missense variant	-	NC_000002.12:g.227032020C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1248Glu	rs548799639	missense variant	-	NC_000002.12:g.227032019C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1248Arg	rs867439682	missense variant	-	NC_000002.12:g.227032020C>T	-
COL4A4	P53420	p.Arg1249Ser	rs778059619	missense variant	-	NC_000002.12:g.227032015T>G	ExAC,gnomAD
COL4A4	P53420	p.Pro1251Ser	rs1207127546	missense variant	-	NC_000002.12:g.227032011G>A	gnomAD
COL4A4	P53420	p.Pro1255Ser	COSM1482817	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227031999G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1255Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227031999G>C	NCI-TCGA
COL4A4	P53420	p.Pro1255Leu	rs1340467301	missense variant	-	NC_000002.12:g.227031998G>A	gnomAD
COL4A4	P53420	p.Asp1256Asn	rs1272126046	missense variant	-	NC_000002.12:g.227031996C>T	gnomAD
COL4A4	P53420	p.Asp1256Glu	rs1227212275	missense variant	-	NC_000002.12:g.227031994G>C	gnomAD
COL4A4	P53420	p.Pro1257Leu	RCV000380424	missense variant	Alport syndrome	NC_000002.12:g.227031992G>A	ClinVar
COL4A4	P53420	p.Pro1257Leu	rs755884665	missense variant	-	NC_000002.12:g.227031992G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1257Ser	rs374113580	missense variant	-	NC_000002.12:g.227031993G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1257Thr	rs374113580	missense variant	-	NC_000002.12:g.227031993G>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1257Arg	rs755884665	missense variant	-	NC_000002.12:g.227031992G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1257Ala	rs374113580	missense variant	-	NC_000002.12:g.227031993G>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1258Arg	rs750038586	missense variant	-	NC_000002.12:g.227031990C>G	ExAC,gnomAD
COL4A4	P53420	p.Pro1259Ser	rs1370656313	missense variant	-	NC_000002.12:g.227031987G>A	TOPMed
COL4A4	P53420	p.Pro1260Ser	COSM4092064	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227031984G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1261Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227031980C>A	NCI-TCGA
COL4A4	P53420	p.Asp1262His	rs1444188086	missense variant	-	NC_000002.12:g.227031978C>G	gnomAD
COL4A4	P53420	p.Gln1263Ter	COSM221983	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227031975G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gln1263Arg	rs1368476351	missense variant	-	NC_000002.12:g.227031974T>C	gnomAD
COL4A4	P53420	p.Gly1264Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227031971C>T	NCI-TCGA
COL4A4	P53420	p.Gly1264Val	rs371915593	missense variant	-	NC_000002.12:g.227031971C>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1265Ser	rs751062903	missense variant	-	NC_000002.12:g.227031969G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp1269His	rs763515232	missense variant	-	NC_000002.12:g.227031957C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp1269Gly	rs530188385	missense variant	-	NC_000002.12:g.227031956T>C	1000Genomes,TOPMed,gnomAD
COL4A4	P53420	p.Pro1271Gln	rs368414659	missense variant	-	NC_000002.12:g.227031950G>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1273Glu	COSM3578377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030598C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1273Arg	rs1482757506	missense variant	-	NC_000002.12:g.227031945C>T	gnomAD
COL4A4	P53420	p.Ala1274Glu	rs757873496	missense variant	-	NC_000002.12:g.227030595G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1274Val	rs757873496	missense variant	-	NC_000002.12:g.227030595G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1275Ala	rs752287593	missense variant	-	NC_000002.12:g.227030593G>C	ExAC,gnomAD
COL4A4	P53420	p.Pro1275Arg	rs1260825949	missense variant	-	NC_000002.12:g.227030592G>C	gnomAD
COL4A4	P53420	p.Pro1275Ser	rs752287593	missense variant	-	NC_000002.12:g.227030593G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro1275Thr	rs752287593	missense variant	-	NC_000002.12:g.227030593G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1277Ser	RCV000625552	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227030587G>A	ClinVar
COL4A4	P53420	p.Pro1277Ser	rs1037084154	missense variant	-	NC_000002.12:g.227030587G>A	TOPMed
COL4A4	P53420	p.Gly1279Ter	RCV000625680	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227030582dup	ClinVar
COL4A4	P53420	p.Leu1280Phe	rs1476400266	missense variant	-	NC_000002.12:g.227030578G>A	TOPMed
COL4A4	P53420	p.Leu1280His	rs760182467	missense variant	-	NC_000002.12:g.227030577A>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1281Thr	COSM720457	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030575G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1282Arg	rs777134408	missense variant	-	NC_000002.12:g.227030572C>T	ExAC,gnomAD
COL4A4	P53420	p.Ser1283Arg	RCV000673569	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227030567A>T	ClinVar
COL4A4	P53420	p.Ser1283Asn	rs1395689063	missense variant	-	NC_000002.12:g.227030568C>T	TOPMed,gnomAD
COL4A4	P53420	p.Ser1283Arg	rs1553625644	missense variant	-	NC_000002.12:g.227030567A>T	-
COL4A4	P53420	p.Ser1283Arg	rs1310236431	missense variant	-	NC_000002.12:g.227030569T>G	gnomAD
COL4A4	P53420	p.Asp1285Tyr	rs539288541	missense variant	-	NC_000002.12:g.227030563C>A	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Leu1286Phe	rs1290745310	missense variant	-	NC_000002.12:g.227030560G>A	gnomAD
COL4A4	P53420	p.Leu1287Val	rs571869797	missense variant	-	NC_000002.12:g.227030557G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1288Ter	RCV000681861	frameshift	-	NC_000002.12:g.227030554_227030555insGA	ClinVar
COL4A4	P53420	p.Gly1289Ala	rs772151223	missense variant	-	NC_000002.12:g.227030550C>G	ExAC,gnomAD
COL4A4	P53420	p.Glu1290Lys	rs865923173	missense variant	-	NC_000002.12:g.227030548C>T	NCI-TCGA
COL4A4	P53420	p.Glu1290Lys	rs865923173	missense variant	-	NC_000002.12:g.227030548C>T	TOPMed
COL4A4	P53420	p.Pro1291Ala	rs34728338	missense variant	-	NC_000002.12:g.227030545G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1292Asp	RCV000735720	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227030541C>T	ClinVar
COL4A4	P53420	p.Gly1292Asp	rs971779449	missense variant	-	NC_000002.12:g.227030541C>T	TOPMed
COL4A4	P53420	p.Asp1293Asn	COSM4831293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030539C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp1293Gly	RCV000735742	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227030538T>C	ClinVar
COL4A4	P53420	p.Gly1295Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227030533C>A	NCI-TCGA
COL4A4	P53420	p.Gly1295Val	rs1367092134	missense variant	-	NC_000002.12:g.227030532C>A	TOPMed,gnomAD
COL4A4	P53420	p.Pro1297Arg	rs769717906	missense variant	-	NC_000002.12:g.227030526G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1297Leu	rs769717906	missense variant	-	NC_000002.12:g.227030526G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1299Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227030521G>A	NCI-TCGA
COL4A4	P53420	p.Pro1299Thr	rs1397570837	missense variant	-	NC_000002.12:g.227030521G>T	TOPMed
COL4A4	P53420	p.Gly1301Val	rs780906076	missense variant	-	NC_000002.12:g.227030514C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1301Asp	rs780906076	missense variant	-	NC_000002.12:g.227030514C>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1302Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227030511G>A	NCI-TCGA
COL4A4	P53420	p.Pro1303Ser	rs1317824051	missense variant	-	NC_000002.12:g.227030509G>A	TOPMed
COL4A4	P53420	p.Pro1303Leu	rs1267498600	missense variant	-	NC_000002.12:g.227030508G>A	gnomAD
COL4A4	P53420	p.Gly1304Ala	COSM1017285	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030505C>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1304Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227030505C>T	NCI-TCGA
COL4A4	P53420	p.Pro1305Leu	rs746621296	missense variant	-	NC_000002.12:g.227030502G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1305Ala	rs757063002	missense variant	-	NC_000002.12:g.227030503G>C	ExAC,gnomAD
COL4A4	P53420	p.Gly1307Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227030496C>T	NCI-TCGA
COL4A4	P53420	p.Pro1308Leu	rs1327291312	missense variant	-	NC_000002.12:g.227030493G>A	gnomAD
COL4A4	P53420	p.Pro1309Ser	COSM3909722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030491G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1310Arg	COSM720458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030488C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Tyr1311Ter	rs1433065763	stop gained	-	NC_000002.12:g.227030483G>T	gnomAD
COL4A4	P53420	p.Tyr1311Ter	rs1433065763	stop gained	-	NC_000002.12:g.227030483G>C	gnomAD
COL4A4	P53420	p.Gly1313Cys	rs1209789082	missense variant	-	NC_000002.12:g.227030479C>A	gnomAD
COL4A4	P53420	p.Pro1315Ser	COSM228901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030473G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1315Leu	rs1466510291	missense variant	-	NC_000002.12:g.227030472G>A	gnomAD
COL4A4	P53420	p.Gly1319Glu	COSM3909721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227030460C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp1321His	rs1326584789	missense variant	-	NC_000002.12:g.227030455C>G	TOPMed,gnomAD
COL4A4	P53420	p.Gln1323Ter	RCV000673590	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227030449G>A	ClinVar
COL4A4	P53420	p.Gln1323Ter	rs1489351299	stop gained	-	NC_000002.12:g.227030449G>A	TOPMed
COL4A4	P53420	p.Gly1325Arg	rs764872559	missense variant	-	NC_000002.12:g.227030443C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1326Thr	RCV000669402	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227028007G>T	ClinVar
COL4A4	P53420	p.Pro1326Thr	rs754359129	missense variant	-	NC_000002.12:g.227028007G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1326Arg	rs1466958282	missense variant	-	NC_000002.12:g.227028006G>C	TOPMed
COL4A4	P53420	p.Val1327Met	RCV000171504	missense variant	-	NC_000002.12:g.227028004C>T	ClinVar
COL4A4	P53420	p.Val1327Met	RCV000246048	missense variant	-	NC_000002.12:g.227028004C>T	ClinVar
COL4A4	P53420	p.Val1327Leu	rs2229813	missense variant	-	NC_000002.12:g.227028004C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val1327Met	rs2229813	missense variant	-	NC_000002.12:g.227028004C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val1327Met	RCV000271269	missense variant	Alport syndrome	NC_000002.12:g.227028004C>T	ClinVar
COL4A4	P53420	p.Gly1328Glu	COSM3578376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227028000C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1328Ala	RCV000664545	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227028000C>G	ClinVar
COL4A4	P53420	p.Gly1328Ala	rs1553624173	missense variant	-	NC_000002.12:g.227028000C>G	-
COL4A4	P53420	p.Pro1330Leu	rs201578201	missense variant	-	NC_000002.12:g.227027994G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1332Gln	rs200860702	missense variant	-	NC_000002.12:g.227027988G>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1332Leu	rs200860702	missense variant	-	NC_000002.12:g.227027988G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln1333His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227027984C>A	NCI-TCGA
COL4A4	P53420	p.Pro1335Ala	RCV000668833	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027980G>C	ClinVar
COL4A4	P53420	p.Pro1335Ala	rs1331634432	missense variant	-	NC_000002.12:g.227027980G>C	TOPMed
COL4A4	P53420	p.Pro1335Ser	rs1331634432	missense variant	-	NC_000002.12:g.227027980G>A	TOPMed
COL4A4	P53420	p.His1336Ter	RCV000670267	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027978_227027981dup	ClinVar
COL4A4	P53420	p.His1336Arg	rs764116548	missense variant	-	NC_000002.12:g.227027976T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1339Ser	COSM5922145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227027968G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1340Glu	rs1240399600	missense variant	-	NC_000002.12:g.227027964C>T	gnomAD
COL4A4	P53420	p.Pro1341Thr	RCV000670328	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027962G>T	ClinVar
COL4A4	P53420	p.Pro1341Gln	rs775592135	missense variant	-	NC_000002.12:g.227027961G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1341Thr	rs539867676	missense variant	-	NC_000002.12:g.227027962G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1342Arg	rs1453250949	missense variant	-	NC_000002.12:g.227027958G>C	TOPMed,gnomAD
COL4A4	P53420	p.Pro1342Leu	rs1453250949	missense variant	-	NC_000002.12:g.227027958G>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly1343Ala	rs1350561484	missense variant	-	NC_000002.12:g.227027955C>G	gnomAD
COL4A4	P53420	p.Lys1345Thr	rs1409570670	missense variant	-	NC_000002.12:g.227027949T>G	gnomAD
COL4A4	P53420	p.Lys1345Asn	rs1369617472	missense variant	-	NC_000002.12:g.227027948C>G	gnomAD
COL4A4	P53420	p.Lys1345Asn	RCV000670055	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027948C>G	ClinVar
COL4A4	P53420	p.Lys1345Met	rs1409570670	missense variant	-	NC_000002.12:g.227027949T>A	gnomAD
COL4A4	P53420	p.Gly1346Cys	rs770838029	missense variant	-	NC_000002.12:g.227027947C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1346Val	rs933331654	missense variant	-	NC_000002.12:g.227027946C>A	TOPMed,gnomAD
COL4A4	P53420	p.Leu1347Phe	rs16823077	missense variant	-	NC_000002.12:g.227027942T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu1347Phe	RCV000671641	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027942T>A	ClinVar
COL4A4	P53420	p.Pro1350Leu	RCV000669928	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027934G>A	ClinVar
COL4A4	P53420	p.Pro1350Leu	rs771916354	missense variant	-	NC_000002.12:g.227027934G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1350Ser	rs1010057124	missense variant	-	NC_000002.12:g.227027935G>A	TOPMed
COL4A4	P53420	p.Pro1351Ala	rs895648453	missense variant	-	NC_000002.12:g.227027932G>C	TOPMed
COL4A4	P53420	p.Arg1353Lys	rs747708741	missense variant	-	NC_000002.12:g.227027925C>T	ExAC,gnomAD
COL4A4	P53420	p.Arg1353Lys	RCV000670002	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027925C>T	ClinVar
COL4A4	P53420	p.Arg1353Lys	rs747708741	missense variant	-	NC_000002.12:g.227027925C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Lys1354Ile	rs1179808279	missense variant	-	NC_000002.12:g.227027922T>A	gnomAD
COL4A4	P53420	p.Gly1355Val	COSM4092063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227027919C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1355Arg	RCV000625557	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227027920C>T	ClinVar
COL4A4	P53420	p.Gly1355Arg	rs1553624029	missense variant	-	NC_000002.12:g.227027920C>T	-
COL4A4	P53420	p.Pro1356Ala	rs1202146866	missense variant	-	NC_000002.12:g.227027917G>C	TOPMed
COL4A4	P53420	p.Pro1356Leu	rs1472133934	missense variant	-	NC_000002.12:g.227027916G>A	gnomAD
COL4A4	P53420	p.Thr1357Ile	RCV000672532	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227027913G>A	ClinVar
COL4A4	P53420	p.Thr1357Ile	rs1258564025	missense variant	-	NC_000002.12:g.227027913G>A	gnomAD
COL4A4	P53420	p.Pro1360Leu	rs773111563	missense variant	-	NC_000002.12:g.227027904G>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1361Cys	rs748786524	missense variant	-	NC_000002.12:g.227027902C>A	ExAC,gnomAD
COL4A4	P53420	p.Gly1364Cys	RCV000625562	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227025802C>A	ClinVar
COL4A4	P53420	p.Gly1364Cys	rs1553622675	missense variant	-	NC_000002.12:g.227025802C>A	-
COL4A4	P53420	p.Gly1364Val	rs770364064	missense variant	-	NC_000002.12:g.227022173C>A	ExAC,gnomAD
COL4A4	P53420	p.Glu1365Gly	rs1162000074	missense variant	-	NC_000002.12:g.227022170T>C	gnomAD
COL4A4	P53420	p.Pro1366Leu	rs578099704	missense variant	-	NC_000002.12:g.227022167G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1366Ser	rs1456054185	missense variant	-	NC_000002.12:g.227022168G>A	gnomAD
COL4A4	P53420	p.Pro1368Leu	rs1424064501	missense variant	-	NC_000002.12:g.227022161G>A	gnomAD
COL4A4	P53420	p.Pro1369Thr	COSM3695312	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022159G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1369Arg	rs748491239	missense variant	-	NC_000002.12:g.227022158G>C	ExAC,gnomAD
COL4A4	P53420	p.Ala1370Val	rs779203537	missense variant	-	NC_000002.12:g.227022155G>A	ExAC,gnomAD
COL4A4	P53420	p.Val1372Met	rs768920533	missense variant	-	NC_000002.12:g.227022150C>T	ExAC,gnomAD
COL4A4	P53420	p.Asp1373Asn	COSM3578373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022147C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp1373Ala	rs1326928157	missense variant	-	NC_000002.12:g.227022146T>G	gnomAD
COL4A4	P53420	p.Asp1374Glu	rs117181365	missense variant	-	NC_000002.12:g.227022142G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Cys1375Ter	RCV000681886	frameshift	-	NC_000002.12:g.227022142del	ClinVar
COL4A4	P53420	p.Pro1376Arg	COSM442415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022137G>C	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1376Ser	rs780131074	missense variant	-	NC_000002.12:g.227022138G>A	ExAC,gnomAD
COL4A4	P53420	p.Arg1377Ter	RCV000018950	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227022135G>A	ClinVar
COL4A4	P53420	p.Arg1377Gln	rs559719653	missense variant	-	NC_000002.12:g.227022134C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg1377Ter	rs121912861	stop gained	-	NC_000002.12:g.227022135G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1377Gln	rs559719653	missense variant	-	NC_000002.12:g.227022134C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1377Ter	RCV000681673	nonsense	-	NC_000002.12:g.227022135G>A	ClinVar
COL4A4	P53420	p.Arg1377Ter	RCV000787008	nonsense	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227022135G>A	ClinVar
COL4A4	P53420	p.Pro1379Gln	COSM418844	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022128G>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1379Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227022129G>A	NCI-TCGA
COL4A4	P53420	p.Leu1381Phe	rs1303758821	missense variant	-	NC_000002.12:g.227022123G>A	TOPMed,gnomAD
COL4A4	P53420	p.Leu1381Pro	rs1359554403	missense variant	-	NC_000002.12:g.227022122A>G	TOPMed
COL4A4	P53420	p.Pro1382Ser	COSM3578372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022120G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1383Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227022116C>A	NCI-TCGA
COL4A4	P53420	p.Ala1384Val	rs199911379	missense variant	-	NC_000002.12:g.227022113G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1384Thr	rs1385235884	missense variant	-	NC_000002.12:g.227022114C>T	gnomAD
COL4A4	P53420	p.Pro1385Arg	rs1284160579	missense variant	-	NC_000002.12:g.227022110G>C	TOPMed
COL4A4	P53420	p.Met1387Thr	COSM720460	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022104A>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg1388Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227022101C>G	NCI-TCGA
COL4A4	P53420	p.Arg1388Lys	rs1378236626	missense variant	-	NC_000002.12:g.227022101C>T	TOPMed
COL4A4	P53420	p.Gly1389Glu	rs759174203	missense variant	-	NC_000002.12:g.227022098C>T	ExAC
COL4A4	P53420	p.Glu1391Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227022093C>T	NCI-TCGA
COL4A4	P53420	p.Gly1392Ala	RCV000681903	missense variant	-	NC_000002.12:g.227022089C>G	ClinVar
COL4A4	P53420	p.Ala1393Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227022087C>T	NCI-TCGA
COL4A4	P53420	p.Met1394Ile	COSM6157242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227022082C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Met1394Leu	rs1433560212	missense variant	-	NC_000002.12:g.227022084T>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly1395Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227022081C>T	NCI-TCGA
COL4A4	P53420	p.Gly1395Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227022080C>T	NCI-TCGA
COL4A4	P53420	p.Leu1396Ile	rs772758486	missense variant	-	NC_000002.12:g.227022078G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1397Ser	rs1353346845	missense variant	-	NC_000002.12:g.227022075G>A	TOPMed
COL4A4	P53420	p.Gly1398Val	rs555333692	missense variant	-	NC_000002.12:g.227022071C>A	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Gly1398Ala	rs555333692	missense variant	-	NC_000002.12:g.227022071C>G	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Met1399Leu	RCV000314501	missense variant	Alport syndrome	NC_000002.12:g.227022069T>A	ClinVar
COL4A4	P53420	p.Met1399Leu	rs149117087	missense variant	-	NC_000002.12:g.227022069T>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1400Lys	rs780107139	missense variant	-	NC_000002.12:g.227022065C>T	ExAC,gnomAD
COL4A4	P53420	p.Arg1400Gly	rs749483911	missense variant	-	NC_000002.12:g.227022066T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1402Arg	rs745926070	missense variant	-	NC_000002.12:g.227022059G>C	ExAC,gnomAD
COL4A4	P53420	p.Pro1402Leu	rs745926070	missense variant	-	NC_000002.12:g.227022059G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro1402Leu	rs745926070	missense variant	-	NC_000002.12:g.227022059G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1402Ser	VAR_008154	Missense	-	-	UniProt
COL4A4	P53420	p.Ser1403Pro	RCV000710851	missense variant	-	NC_000002.12:g.227022057A>G	ClinVar
COL4A4	P53420	p.Ser1403Pro	RCV000407614	missense variant	Alport syndrome	NC_000002.12:g.227022057A>G	ClinVar
COL4A4	P53420	p.Ser1403Pro	RCV000249698	missense variant	-	NC_000002.12:g.227022057A>G	ClinVar
COL4A4	P53420	p.Ser1403Pro	rs3752895	missense variant	-	NC_000002.12:g.227022057A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1404Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227022053C>T	NCI-TCGA
COL4A4	P53420	p.Gly1406Ala	RCV000670286	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227012297C>G	ClinVar
COL4A4	P53420	p.Gly1406Arg	rs1441442750	missense variant	-	NC_000002.12:g.227022048C>T	TOPMed
COL4A4	P53420	p.Gly1406Ala	rs1364711591	missense variant	-	NC_000002.12:g.227012297C>G	TOPMed
COL4A4	P53420	p.Gly1409Arg	rs771160320	missense variant	-	NC_000002.12:g.227012289C>T	NCI-TCGA
COL4A4	P53420	p.Gly1409Ala	rs748081832	missense variant	-	NC_000002.12:g.227012288C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1409Arg	rs771160320	missense variant	-	NC_000002.12:g.227012289C>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1411Ala	rs1030987912	missense variant	-	NC_000002.12:g.227012283G>C	TOPMed
COL4A4	P53420	p.Gly1412Glu	rs201996712	missense variant	-	NC_000002.12:g.227012279C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp1414Glu	rs374946510	missense variant	-	NC_000002.12:g.227012272A>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1415Ser	COSM3578369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227012271C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Arg1416Lys	rs370734150	missense variant	-	NC_000002.12:g.227012267C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg1416Lys	rs370734150	missense variant	-	NC_000002.12:g.227012267C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1417Trp	rs1467555264	missense variant	-	NC_000002.12:g.227012265T>A	gnomAD
COL4A4	P53420	p.Arg1417Lys	rs1375833616	missense variant	-	NC_000002.12:g.227012264C>T	gnomAD
COL4A4	P53420	p.Gly1418Ala	rs1198485647	missense variant	-	NC_000002.12:g.227012261C>G	TOPMed,gnomAD
COL4A4	P53420	p.Gly1421Asp	rs1472788346	missense variant	-	NC_000002.12:g.227012252C>T	gnomAD
COL4A4	P53420	p.Val1422Ile	rs368105222	missense variant	-	NC_000002.12:g.227012250C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Val1422Ile	rs368105222	missense variant	-	NC_000002.12:g.227012250C>T	1000Genomes,ESP,ExAC,gnomAD
COL4A4	P53420	p.Pro1423Ser	rs1262718137	missense variant	-	NC_000002.12:g.227012247G>A	TOPMed
COL4A4	P53420	p.Pro1423Arg	rs756690138	missense variant	-	NC_000002.12:g.227012246G>C	ExAC,gnomAD
COL4A4	P53420	p.Gly1424Arg	rs1279460245	missense variant	-	NC_000002.12:g.227012244C>T	gnomAD
COL4A4	P53420	p.Ser1425Pro	rs764494474	missense variant	-	NC_000002.12:g.227012241A>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1426Ala	rs1263044125	missense variant	-	NC_000002.12:g.227012238G>C	TOPMed,gnomAD
COL4A4	P53420	p.Pro1429Ser	rs1025601519	missense variant	-	NC_000002.12:g.227012229G>A	TOPMed,gnomAD
COL4A4	P53420	p.Gly1430Arg	rs775926807	missense variant	-	NC_000002.12:g.227012226C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1431Cys	rs536570392	missense variant	-	NC_000002.12:g.227012223G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg1431Ser	rs536570392	missense variant	-	NC_000002.12:g.227012223G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1431His	rs777028184	missense variant	-	NC_000002.12:g.227012222C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1431Cys	rs536570392	missense variant	-	NC_000002.12:g.227012223G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1433Cys	COSM1017282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227012217C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1433Asp	rs1553614863	missense variant	-	NC_000002.12:g.227012216C>T	-
COL4A4	P53420	p.Gly1433Asp	RCV000671292	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227012216C>T	ClinVar
COL4A4	P53420	p.Asp1438Glu	rs373331310	missense variant	-	NC_000002.12:g.227012200G>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1439Ter	RCV000681933	frameshift	-	NC_000002.12:g.227012199_227012203dup	ClinVar
COL4A4	P53420	p.Gly1439Asp	rs1175615518	missense variant	-	NC_000002.12:g.227012198C>T	gnomAD
COL4A4	P53420	p.Pro1441Arg	rs192942886	missense variant	-	NC_000002.12:g.227012192G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1441Ser	rs773403188	missense variant	-	NC_000002.12:g.227012193G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro1441Leu	rs192942886	missense variant	-	NC_000002.12:g.227012192G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1442Val	COSM720462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227012189C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1443Arg	rs779769090	missense variant	-	NC_000002.12:g.227012187C>G	ExAC,gnomAD
COL4A4	P53420	p.Gly1443Arg	rs779769090	missense variant	-	NC_000002.12:g.227012187C>T	ExAC,gnomAD
COL4A4	P53420	p.Gly1445Glu	RCV000710853	missense variant	-	NC_000002.12:g.227010501C>T	ClinVar
COL4A4	P53420	p.Pro1446Leu	rs775373551	missense variant	-	NC_000002.12:g.227010498G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro1447Ser	rs1215595212	missense variant	-	NC_000002.12:g.227010496G>A	gnomAD
COL4A4	P53420	p.Pro1449Arg	rs1452546964	missense variant	-	NC_000002.12:g.227010489G>C	TOPMed,gnomAD
COL4A4	P53420	p.Ile1450Asn	rs72969704	missense variant	-	NC_000002.12:g.227010486A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ile1450Thr	rs72969704	missense variant	-	NC_000002.12:g.227010486A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ile1450Thr	RCV000299569	missense variant	Alport syndrome	NC_000002.12:g.227010486A>G	ClinVar
COL4A4	P53420	p.Asp1452Asn	rs1356773062	missense variant	-	NC_000002.12:g.227010481C>T	gnomAD
COL4A4	P53420	p.Pro1455Ala	rs1313789894	missense variant	-	NC_000002.12:g.227010472G>C	gnomAD
COL4A4	P53420	p.Lys1456Arg	rs770419378	missense variant	-	NC_000002.12:g.227010468T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Lys1456Ile	rs770419378	missense variant	-	NC_000002.12:g.227010468T>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1457Arg	rs746683977	missense variant	-	NC_000002.12:g.227010466C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1457Arg	rs746683977	missense variant	-	NC_000002.12:g.227010466C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1457Arg	rs746683977	missense variant	-	NC_000002.12:g.227010466C>G	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Phe1458Val	rs1189137447	missense variant	-	NC_000002.12:g.227010463A>C	TOPMed
COL4A4	P53420	p.Gly1459Val	rs1287040507	missense variant	-	NC_000002.12:g.227010459C>A	TOPMed,gnomAD
COL4A4	P53420	p.Tyr1462Cys	rs777095266	missense variant	-	NC_000002.12:g.227010450T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1464Ser	rs372558522	missense variant	-	NC_000002.12:g.227010445C>T	NCI-TCGA
COL4A4	P53420	p.Gly1464Ser	rs372558522	missense variant	-	NC_000002.12:g.227010445C>T	1000Genomes,ESP,ExAC,gnomAD
COL4A4	P53420	p.Gly1465Ser	COSM3578366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227010442C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1465Asp	RCV000673767	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227010441C>T	ClinVar
COL4A4	P53420	p.Gly1465Cys	rs1423011929	missense variant	-	NC_000002.12:g.227010442C>A	gnomAD
COL4A4	P53420	p.Gly1465Asp	rs533297350	missense variant	-	NC_000002.12:g.227010441C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val1469Phe	rs1459095382	missense variant	-	NC_000002.12:g.227010430C>A	TOPMed
COL4A4	P53420	p.Leu1470Phe	COSM3578365	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227010427G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.His1471Gln	rs1478610555	missense variant	-	NC_000002.12:g.227010422G>C	TOPMed,gnomAD
COL4A4	P53420	p.His1471Tyr	rs754254861	missense variant	-	NC_000002.12:g.227010424G>A	ExAC,gnomAD
COL4A4	P53420	p.Gln1473Lys	rs766771700	missense variant	-	NC_000002.12:g.227010418G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln1473Lys	RCV000625679	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227010418G>T	ClinVar
COL4A4	P53420	p.Thr1474Met	RCV000407621	missense variant	Alport syndrome	NC_000002.12:g.227010414G>A	ClinVar
COL4A4	P53420	p.Thr1474Met	rs201615111	missense variant	-	NC_000002.12:g.227010414G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Thr1474Met	rs201615111	missense variant	-	NC_000002.12:g.227010414G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Asp1475Tyr	rs767457222	missense variant	-	NC_000002.12:g.227010412C>A	ExAC,gnomAD
COL4A4	P53420	p.Asp1475Tyr	RCV000672936	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227010412C>A	ClinVar
COL4A4	P53420	p.Glu1477Ter	RCV000681885	nonsense	-	NC_000002.12:g.227010406C>A	ClinVar
COL4A4	P53420	p.Glu1477Lys	rs1367906290	missense variant	-	NC_000002.12:g.227010406C>T	TOPMed
COL4A4	P53420	p.Pro1478Leu	rs761857469	missense variant	-	NC_000002.12:g.227010402G>A	ExAC,gnomAD
COL4A4	P53420	p.Cys1480Ter	rs774471575	stop gained	-	NC_000002.12:g.227010395G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1481Leu	rs1433385826	missense variant	-	NC_000002.12:g.227010393G>A	TOPMed
COL4A4	P53420	p.Leu1482Arg	rs776227562	missense variant	-	NC_000002.12:g.227010390A>C	ExAC,TOPMed
COL4A4	P53420	p.Leu1482Pro	rs776227562	missense variant	-	NC_000002.12:g.227010390A>G	ExAC,TOPMed
COL4A4	P53420	p.Gly1483Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227010388C>A	NCI-TCGA
COL4A4	P53420	p.Leu1487Phe	rs746599360	missense variant	-	NC_000002.12:g.227010376G>A	ExAC,gnomAD
COL4A4	P53420	p.Trp1488Ser	rs777452956	missense variant	-	NC_000002.12:g.227010372C>G	ExAC,gnomAD
COL4A4	P53420	p.Tyr1491Cys	RCV000625691	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227010363T>C	ClinVar
COL4A4	P53420	p.Tyr1491His	rs771902480	missense variant	-	NC_000002.12:g.227010364A>G	ExAC,gnomAD
COL4A4	P53420	p.Tyr1491Cys	rs1553613772	missense variant	-	NC_000002.12:g.227010363T>C	-
COL4A4	P53420	p.Tyr1495Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227010352A>T	NCI-TCGA
COL4A4	P53420	p.Leu1496Val	rs964039621	missense variant	-	NC_000002.12:g.227010349G>C	gnomAD
COL4A4	P53420	p.Glu1497Lys	rs1263829643	missense variant	-	NC_000002.12:g.227010346C>T	TOPMed
COL4A4	P53420	p.Gln1499Glu	rs778637720	missense variant	-	NC_000002.12:g.227010340G>C	ExAC,gnomAD
COL4A4	P53420	p.Glu1500Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227010335C>A	NCI-TCGA
COL4A4	P53420	p.Ala1502Pro	rs1197786869	missense variant	-	NC_000002.12:g.227010331C>G	TOPMed,gnomAD
COL4A4	P53420	p.Ala1502Gly	rs1022726727	missense variant	-	NC_000002.12:g.227010330G>C	gnomAD
COL4A4	P53420	p.Asn1504Ile	rs892576800	missense variant	-	NC_000002.12:g.227010324T>A	TOPMed
COL4A4	P53420	p.Asn1504Ser	rs892576800	missense variant	-	NC_000002.12:g.227010324T>C	TOPMed
COL4A4	P53420	p.Asn1504Tyr	rs780234545	missense variant	-	NC_000002.12:g.227010325T>A	ExAC,gnomAD
COL4A4	P53420	p.Asn1504Asp	rs780234545	missense variant	-	NC_000002.12:g.227010325T>C	ExAC,gnomAD
COL4A4	P53420	p.Gln1505Glu	rs756535060	missense variant	-	NC_000002.12:g.227010322G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu1507Phe	rs1182462611	missense variant	-	NC_000002.12:g.227010316G>A	gnomAD
COL4A4	P53420	p.Gly1508Ser	rs1003748020	missense variant	-	NC_000002.12:g.227010313C>T	gnomAD
COL4A4	P53420	p.Gly1508Ser	rs1003748020	missense variant	-	NC_000002.12:g.227010313C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Ala1510Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227008298G>A	NCI-TCGA
COL4A4	P53420	p.Ala1510Thr	rs767433627	missense variant	-	NC_000002.12:g.227008299C>T	ExAC,gnomAD
COL4A4	P53420	p.Ala1510Gly	rs1308981445	missense variant	-	NC_000002.12:g.227008298G>C	TOPMed
COL4A4	P53420	p.Gly1511Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227008296C>G	NCI-TCGA
COL4A4	P53420	p.Val1516Glu	rs748815893	missense variant	-	NC_000002.12:g.227008280A>T	ExAC,gnomAD
COL4A4	P53420	p.Val1516Ile	rs199517662	missense variant	-	NC_000002.12:g.227008281C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val1516Ala	rs748815893	missense variant	-	NC_000002.12:g.227008280A>G	ExAC,gnomAD
COL4A4	P53420	p.Thr1519Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227008271G>T	NCI-TCGA
COL4A4	P53420	p.Thr1519Met	rs770268591	missense variant	-	NC_000002.12:g.227008271G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1521Ser	COSM3838753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227008266G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1521Leu	rs1222616093	missense variant	-	NC_000002.12:g.227008265G>A	NCI-TCGA
COL4A4	P53420	p.Pro1521Leu	rs1222616093	missense variant	-	NC_000002.12:g.227008265G>A	gnomAD
COL4A4	P53420	p.Phe1522Val	rs1361807560	missense variant	-	NC_000002.12:g.227008263A>C	gnomAD
COL4A4	P53420	p.Asn1526Ser	COSM6157244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227008250T>C	NCI-TCGA Cosmic
COL4A4	P53420	p.Gln1529Glu	rs1253225024	missense variant	-	NC_000002.12:g.227008242G>C	TOPMed
COL4A4	P53420	p.His1532Arg	rs747411581	missense variant	-	NC_000002.12:g.227008232T>C	ExAC,gnomAD
COL4A4	P53420	p.Tyr1533Ter	RCV000673399	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008228A>C	ClinVar
COL4A4	P53420	p.Tyr1533Ter	rs369922627	stop gained	-	NC_000002.12:g.227008228A>C	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1536Ile	rs1012782965	missense variant	-	NC_000002.12:g.227008220C>A	TOPMed,gnomAD
COL4A4	P53420	p.Asn1537Lys	rs1458127052	missense variant	-	NC_000002.12:g.227008216G>C	TOPMed,gnomAD
COL4A4	P53420	p.Asn1537Ser	rs1294440853	missense variant	-	NC_000002.12:g.227008217T>C	TOPMed,gnomAD
COL4A4	P53420	p.Asp1538Glu	rs1366389265	missense variant	-	NC_000002.12:g.227008213G>C	gnomAD
COL4A4	P53420	p.Asp1538Asn	rs376401228	missense variant	-	NC_000002.12:g.227008215C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1539Lys	rs1299842916	missense variant	-	NC_000002.12:g.227008211C>T	TOPMed
COL4A4	P53420	p.Tyr1541Ter	RCV000674209	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008204G>C	ClinVar
COL4A4	P53420	p.Tyr1541Ter	rs891854419	stop gained	-	NC_000002.12:g.227008204G>C	TOPMed
COL4A4	P53420	p.Trp1542Ter	RCV000681809	frameshift	-	NC_000002.12:g.227008203_227008206dup	ClinVar
COL4A4	P53420	p.Trp1542Arg	rs1161192021	missense variant	-	NC_000002.12:g.227008203A>G	gnomAD
COL4A4	P53420	p.Ala1544Thr	rs752821065	missense variant	-	NC_000002.12:g.227008197C>T	ExAC,gnomAD
COL4A4	P53420	p.Ser1545Cys	rs1053152794	missense variant	-	NC_000002.12:g.227008194T>A	TOPMed,gnomAD
COL4A4	P53420	p.Ala1546Thr	rs371599457	missense variant	-	NC_000002.12:g.227008191C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1547Val	RCV000625647	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227008187G>A	ClinVar
COL4A4	P53420	p.Ala1547Val	RCV000825910	missense variant	-	NC_000002.12:g.227008187G>A	ClinVar
COL4A4	P53420	p.Ala1547Val	rs780916516	missense variant	-	NC_000002.12:g.227008187G>A	NCI-TCGA
COL4A4	P53420	p.Ala1547Val	rs780916516	missense variant	-	NC_000002.12:g.227008187G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1548Leu	rs761671093	missense variant	-	NC_000002.12:g.227008184G>A	ExAC,gnomAD
COL4A4	P53420	p.Leu1549Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227008182G>T	NCI-TCGA
COL4A4	P53420	p.Leu1549Pro	rs1342970530	missense variant	-	NC_000002.12:g.227008181A>G	gnomAD
COL4A4	P53420	p.Leu1549Phe	rs763832994	missense variant	-	NC_000002.12:g.227008182G>A	ExAC,gnomAD
COL4A4	P53420	p.Met1551Leu	rs1225912653	missense variant	-	NC_000002.12:g.227008176T>G	gnomAD
COL4A4	P53420	p.Met1551Lys	rs1326320251	missense variant	-	NC_000002.12:g.227008175A>T	TOPMed,gnomAD
COL4A4	P53420	p.Met1551Thr	rs1326320251	missense variant	-	NC_000002.12:g.227008175A>G	TOPMed,gnomAD
COL4A4	P53420	p.Met1552Ile	RCV000842036	missense variant	-	NC_000002.12:g.227008171C>T	ClinVar
COL4A4	P53420	p.Met1552Ile	rs77104306	missense variant	-	NC_000002.12:g.227008171C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Met1552Ile	RCV000517669	missense variant	-	NC_000002.12:g.227008171C>T	ClinVar
COL4A4	P53420	p.Glu1556Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227008160T>G	NCI-TCGA
COL4A4	P53420	p.Ala1558Val	RCV000674978	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008154G>A	ClinVar
COL4A4	P53420	p.Ala1558Val	rs760044982	missense variant	-	NC_000002.12:g.227008154G>A	NCI-TCGA
COL4A4	P53420	p.Ala1558Val	rs760044982	missense variant	-	NC_000002.12:g.227008154G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ile1559Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227008150G>C	NCI-TCGA
COL4A4	P53420	p.Arg1560Cys	RCV000342956	missense variant	Alport syndrome	NC_000002.12:g.227008149G>A	ClinVar
COL4A4	P53420	p.Arg1560His	rs747362746	missense variant	-	NC_000002.12:g.227008148C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1560Cys	rs200973262	missense variant	-	NC_000002.12:g.227008149G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1560His	rs747362746	missense variant	-	NC_000002.12:g.227008148C>T	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg1560Ter	RCV000672397	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008146_227008150del	ClinVar
COL4A4	P53420	p.Pro1561Ser	rs778178541	missense variant	-	NC_000002.12:g.227008146G>A	ExAC,gnomAD
COL4A4	P53420	p.Tyr1562His	rs1192004113	missense variant	-	NC_000002.12:g.227008143A>G	TOPMed
COL4A4	P53420	p.Arg1565Cys	rs372161135	missense variant	-	NC_000002.12:g.227008134G>A	NCI-TCGA
COL4A4	P53420	p.Arg1565His	rs200109045	missense variant	-	NC_000002.12:g.227008133C>T	NCI-TCGA
COL4A4	P53420	p.Arg1565Cys	rs372161135	missense variant	-	NC_000002.12:g.227008134G>A	ESP,ExAC,gnomAD
COL4A4	P53420	p.Arg1565His	rs200109045	missense variant	-	NC_000002.12:g.227008133C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1565Ter	RCV000625630	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008117_227008136del	ClinVar
COL4A4	P53420	p.Cys1566Gly	rs1252796737	missense variant	-	NC_000002.12:g.227008131A>C	gnomAD
COL4A4	P53420	p.Ala1567Val	rs779005474	missense variant	-	NC_000002.12:g.227008127G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Ala1567Val	rs779005474	missense variant	-	NC_000002.12:g.227008127G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Cys1569Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227008122A>T	NCI-TCGA
COL4A4	P53420	p.Cys1569Phe	rs370917166	missense variant	-	NC_000002.12:g.227008121C>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu1570Lys	rs757328549	missense variant	-	NC_000002.12:g.227008119C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu1570Gln	rs757328549	missense variant	-	NC_000002.12:g.227008119C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Glu1570Gly	rs1161613714	missense variant	-	NC_000002.12:g.227008118T>C	gnomAD
COL4A4	P53420	p.Glu1570Asp	rs1443445766	missense variant	-	NC_000002.12:g.227008117C>A	TOPMed
COL4A4	P53420	p.Ala1571Val	rs1403985290	missense variant	-	NC_000002.12:g.227008115G>A	gnomAD
COL4A4	P53420	p.Pro1572Leu	RCV000825912	missense variant	-	NC_000002.12:g.227008112G>A	ClinVar
COL4A4	P53420	p.Pro1572Leu	rs121912863	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227008112G>A	UniProt,dbSNP
COL4A4	P53420	p.Pro1572Leu	VAR_008155	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227008112G>A	UniProt
COL4A4	P53420	p.Pro1572Leu	rs121912863	missense variant	-	NC_000002.12:g.227008112G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1573Val	rs762613810	missense variant	-	NC_000002.12:g.227008109G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1575Val	rs199760323	missense variant	-	NC_000002.12:g.227008103G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Ala1575Val	rs199760323	missense variant	-	NC_000002.12:g.227008103G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1575Glu	rs199760323	missense variant	-	NC_000002.12:g.227008103G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val1576Ala	rs936251750	missense variant	-	NC_000002.12:g.227008100A>G	gnomAD
COL4A4	P53420	p.Ala1577Val	rs758945837	missense variant	-	NC_000002.12:g.227008097G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Val1578Leu	rs1175400080	missense variant	-	NC_000002.12:g.227008095C>A	gnomAD
COL4A4	P53420	p.His1579Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227008091T>C	NCI-TCGA
COL4A4	P53420	p.Ser1580Asn	rs771426359	missense variant	-	NC_000002.12:g.227008088C>T	ExAC,gnomAD
COL4A4	P53420	p.Gln1583Leu	rs761176815	missense variant	-	NC_000002.12:g.227008079T>A	ExAC,gnomAD
COL4A4	P53420	p.Ser1584Phe	COSM4900140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227008076G>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Ile1585Thr	COSM3991115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227008073A>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Pro1587Leu	RCV000517177	missense variant	-	NC_000002.12:g.227008067G>A	ClinVar
COL4A4	P53420	p.Pro1587HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227008067G>-	NCI-TCGA
COL4A4	P53420	p.Pro1587Ala	rs773508075	missense variant	-	NC_000002.12:g.227008068G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1587Ser	rs773508075	missense variant	-	NC_000002.12:g.227008068G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1587Arg	rs190148408	missense variant	-	NC_000002.12:g.227008067G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1587Gln	rs190148408	missense variant	-	NC_000002.12:g.227008067G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1587Ter	RCV000684750	frameshift	-	NC_000002.12:g.227008072del	ClinVar
COL4A4	P53420	p.Pro1587Leu	rs190148408	missense variant	-	NC_000002.12:g.227008067G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Pro1587Arg	RCV000835693	missense variant	-	NC_000002.12:g.227008067G>C	ClinVar
COL4A4	P53420	p.Pro1587Ter	RCV000667142	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227008072del	ClinVar
COL4A4	P53420	p.Pro1589Leu	rs768974023	missense variant	-	NC_000002.12:g.227008061G>A	ExAC,gnomAD
COL4A4	P53420	p.Pro1589Leu	rs768974023	missense variant	-	NC_000002.12:g.227008061G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Gln1590Ter	RCV000681827	nonsense	-	NC_000002.12:g.227008059G>A	ClinVar
COL4A4	P53420	p.Trp1592Arg	rs780283211	missense variant	-	NC_000002.12:g.227008053A>G	ExAC,gnomAD
COL4A4	P53420	p.Arg1593Lys	rs1011809976	missense variant	-	NC_000002.12:g.227008049C>T	TOPMed,gnomAD
COL4A4	P53420	p.Ser1594Arg	rs200799557	missense variant	-	NC_000002.12:g.227008045G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Leu1595Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227008044G>T	NCI-TCGA
COL4A4	P53420	p.Trp1596Ter	rs1222429942	stop gained	-	NC_000002.12:g.227008040C>T	gnomAD
COL4A4	P53420	p.Trp1596Ter	rs758096259	stop gained	-	NC_000002.12:g.227008039C>T	ExAC,gnomAD
COL4A4	P53420	p.Ile1597Met	rs752585800	missense variant	-	NC_000002.12:g.227008036G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1598Arg	rs1403779580	missense variant	-	NC_000002.12:g.227008035C>T	gnomAD
COL4A4	P53420	p.Tyr1599Ser	rs1343446001	missense variant	-	NC_000002.12:g.227008031T>G	gnomAD
COL4A4	P53420	p.Met1603Thr	rs377058706	missense variant	-	NC_000002.12:g.227008019A>G	ESP,ExAC,gnomAD
COL4A4	P53420	p.Met1603Leu	rs1409801920	missense variant	-	NC_000002.12:g.227008020T>A	TOPMed,gnomAD
COL4A4	P53420	p.Thr1605Ile	rs374167724	missense variant	-	NC_000002.12:g.227007584G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1606Glu	rs767901025	missense variant	-	NC_000002.12:g.227007581C>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gly1606Arg	rs750001630	missense variant	-	NC_000002.12:g.227007582C>G	ExAC,gnomAD
COL4A4	P53420	p.Gly1606Glu	RCV000667621	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007581C>T	ClinVar
COL4A4	P53420	p.Ala1607Ter	RCV000735681	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227007578del	ClinVar
COL4A4	P53420	p.Asp1609Asn	COSM3578362	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007573C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Asp1609Tyr	rs1429753305	missense variant	-	NC_000002.12:g.227007573C>A	gnomAD
COL4A4	P53420	p.Gln1610Arg	rs369714481	missense variant	-	NC_000002.12:g.227007569T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln1610Glu	rs762452355	missense variant	-	NC_000002.12:g.227007570G>C	ExAC,gnomAD
COL4A4	P53420	p.Gly1612Glu	COSM3578361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007563C>T	NCI-TCGA Cosmic
COL4A4	P53420	p.Gly1612Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007564C>T	NCI-TCGA
COL4A4	P53420	p.Gly1613Arg	rs377233046	missense variant	-	NC_000002.12:g.227007561C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1615Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007555C>T	NCI-TCGA
COL4A4	P53420	p.Leu1616Arg	rs1417970160	missense variant	-	NC_000002.12:g.227007551A>C	TOPMed,gnomAD
COL4A4	P53420	p.Met1617Thr	rs775820438	missense variant	-	NC_000002.12:g.227007548A>G	ExAC,gnomAD
COL4A4	P53420	p.Gly1620Ser	rs1271416659	missense variant	-	NC_000002.12:g.227007540C>T	gnomAD
COL4A4	P53420	p.Ser1621Asn	rs886055723	missense variant	-	NC_000002.12:g.227007536C>T	TOPMed,gnomAD
COL4A4	P53420	p.Ser1621Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007535G>T	NCI-TCGA
COL4A4	P53420	p.Ser1621Asn	RCV000327870	missense variant	Alport syndrome	NC_000002.12:g.227007536C>T	ClinVar
COL4A4	P53420	p.Leu1623Pro	rs776835720	missense variant	-	NC_000002.12:g.227007530A>G	ExAC,gnomAD
COL4A4	P53420	p.Leu1623Val	rs745928196	missense variant	-	NC_000002.12:g.227007531G>C	ExAC,gnomAD
COL4A4	P53420	p.Leu1623Met	rs745928196	missense variant	-	NC_000002.12:g.227007531G>T	ExAC,gnomAD
COL4A4	P53420	p.Leu1623Met	rs745928196	missense variant	-	NC_000002.12:g.227007531G>T	NCI-TCGA
COL4A4	P53420	p.Glu1624Lys	rs539801258	missense variant	-	NC_000002.12:g.227007528C>T	1000Genomes,ExAC,gnomAD
COL4A4	P53420	p.Asp1625His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007525C>G	NCI-TCGA
COL4A4	P53420	p.Asp1625Tyr	rs748131225	missense variant	-	NC_000002.12:g.227007525C>A	ExAC,gnomAD
COL4A4	P53420	p.Asp1625Glu	rs1213850422	missense variant	-	NC_000002.12:g.227007523A>C	gnomAD
COL4A4	P53420	p.Arg1627Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007518C>T	NCI-TCGA
COL4A4	P53420	p.Arg1627Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007518C>G	NCI-TCGA
COL4A4	P53420	p.Ala1628Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007516C>T	NCI-TCGA
COL4A4	P53420	p.Ala1629Thr	rs1324597548	missense variant	-	NC_000002.12:g.227007513C>T	TOPMed
COL4A4	P53420	p.Ala1629Gly	rs1324013467	missense variant	-	NC_000002.12:g.227007512G>C	gnomAD
COL4A4	P53420	p.Pro1630Gln	rs778524414	missense variant	-	NC_000002.12:g.227007509G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1630Ala	rs1049474076	missense variant	-	NC_000002.12:g.227007510G>C	TOPMed
COL4A4	P53420	p.Leu1632Val	rs1278880176	missense variant	-	NC_000002.12:g.227007504G>C	TOPMed
COL4A4	P53420	p.Cys1634Tyr	rs1345086570	missense variant	-	NC_000002.12:g.227007497C>T	gnomAD
COL4A4	P53420	p.Gln1635Ter	RCV000669796	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007495G>A	ClinVar
COL4A4	P53420	p.Gln1635Ter	rs1553611947	stop gained	-	NC_000002.12:g.227007495G>A	-
COL4A4	P53420	p.Gly1636Ala	rs749126012	missense variant	-	NC_000002.12:g.227007491C>G	ExAC,gnomAD
COL4A4	P53420	p.Gly1636Asp	rs749126012	missense variant	-	NC_000002.12:g.227007491C>T	ExAC,gnomAD
COL4A4	P53420	p.Arg1637Trp	rs779662741	missense variant	-	NC_000002.12:g.227007489G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1637Gln	rs937092831	missense variant	-	NC_000002.12:g.227007488C>T	gnomAD
COL4A4	P53420	p.Arg1637Leu	rs937092831	missense variant	-	NC_000002.12:g.227007488C>A	gnomAD
COL4A4	P53420	p.Arg1637Pro	rs937092831	missense variant	-	NC_000002.12:g.227007488C>G	gnomAD
COL4A4	P53420	p.Gln1638Lys	rs755824478	missense variant	-	NC_000002.12:g.227007486G>T	ExAC,gnomAD
COL4A4	P53420	p.Gln1638Glu	rs755824478	missense variant	-	NC_000002.12:g.227007486G>C	ExAC,gnomAD
COL4A4	P53420	p.Gly1639Arg	rs749899964	missense variant	-	NC_000002.12:g.227007483C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Cys1641Ter	RCV000018951	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007475G>T	ClinVar
COL4A4	P53420	p.Cys1641Arg	rs1479278183	missense variant	-	NC_000002.12:g.227007477A>G	gnomAD
COL4A4	P53420	p.Cys1641Ter	rs121912862	stop gained	-	NC_000002.12:g.227007475G>T	-
COL4A4	P53420	p.His1642Arg	rs1177348012	missense variant	-	NC_000002.12:g.227007473T>C	gnomAD
COL4A4	P53420	p.His1642Tyr	rs200450557	missense variant	-	NC_000002.12:g.227007474G>A	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1645Ter	RCV000673823	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007466delinsAA	ClinVar
COL4A4	P53420	p.Ala1645Thr	rs752134510	missense variant	-	NC_000002.12:g.227007465C>T	ExAC,gnomAD
COL4A4	P53420	p.Asn1646Ser	rs764734415	missense variant	-	NC_000002.12:g.227007461T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Lys1647Thr	rs1221443043	missense variant	-	NC_000002.12:g.227007458T>G	NCI-TCGA
COL4A4	P53420	p.Lys1647Thr	rs1221443043	missense variant	-	NC_000002.12:g.227007458T>G	gnomAD
COL4A4	P53420	p.Lys1647Glu	rs1264816671	missense variant	-	NC_000002.12:g.227007459T>C	gnomAD
COL4A4	P53420	p.Tyr1648Cys	rs763387095	missense variant	-	NC_000002.12:g.227007455T>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ser1649Ile	rs1225616968	missense variant	-	NC_000002.12:g.227007452C>A	gnomAD
COL4A4	P53420	p.Ser1649Gly	rs192411379	missense variant	-	NC_000002.12:g.227007453T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Phe1650Leu	RCV000625631	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007450A>G	ClinVar
COL4A4	P53420	p.Phe1650Ser	rs1263213656	missense variant	-	NC_000002.12:g.227007449A>G	TOPMed
COL4A4	P53420	p.Phe1650Leu	rs1553611876	missense variant	-	NC_000002.12:g.227007450A>G	-
COL4A4	P53420	p.Phe1650Leu	rs542384685	missense variant	-	NC_000002.12:g.227007448G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Trp1651Ter	rs1408907127	stop gained	-	NC_000002.12:g.227007445C>T	gnomAD
COL4A4	P53420	p.Trp1651Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007446C>A	NCI-TCGA
COL4A4	P53420	p.Trp1651Arg	rs1454018885	missense variant	-	NC_000002.12:g.227007447A>G	gnomAD
COL4A4	P53420	p.Thr1654Met	rs771066050	missense variant	-	NC_000002.12:g.227007437G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Thr1654Met	rs771066050	missense variant	-	NC_000002.12:g.227007437G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1657Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007428G>A	NCI-TCGA
COL4A4	P53420	p.Ala1657Thr	rs768633939	missense variant	-	NC_000002.12:g.227007429C>T	ExAC
COL4A4	P53420	p.Asp1658His	rs749073740	missense variant	-	NC_000002.12:g.227007426C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Gln1660Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007419T>C	NCI-TCGA
COL4A4	P53420	p.Gln1660Lys	rs769372058	missense variant	-	NC_000002.12:g.227007420G>T	ExAC,gnomAD
COL4A4	P53420	p.Phe1661Tyr	RCV000735763	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227007416A>T	ClinVar
COL4A4	P53420	p.Phe1661Tyr	RCV000825906	missense variant	-	NC_000002.12:g.227007416A>T	ClinVar
COL4A4	P53420	p.Phe1661Tyr	rs374119389	missense variant	-	NC_000002.12:g.227007416A>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ser1663Cys	rs780525036	missense variant	-	NC_000002.12:g.227007410G>C	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ala1664Pro	rs1201612577	missense variant	-	NC_000002.12:g.227007408C>G	gnomAD
COL4A4	P53420	p.Pro1665Thr	rs756756825	missense variant	-	NC_000002.12:g.227007405G>T	ExAC,gnomAD
COL4A4	P53420	p.Pro1667Ser	rs1218247424	missense variant	-	NC_000002.12:g.227007399G>A	gnomAD
COL4A4	P53420	p.Asp1668His	rs778411061	missense variant	-	NC_000002.12:g.227007396C>G	ExAC,gnomAD
COL4A4	P53420	p.Glu1672Ala	RCV000735779	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227007383T>G	ClinVar
COL4A4	P53420	p.Glu1672Ala	rs1354826968	missense variant	-	NC_000002.12:g.227007383T>G	TOPMed
COL4A4	P53420	p.Ser1673Asn	rs1385708518	missense variant	-	NC_000002.12:g.227007380C>T	gnomAD
COL4A4	P53420	p.Gln1674His	COSM5079341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007376C>A	NCI-TCGA Cosmic
COL4A4	P53420	p.Gln1674Ter	rs1023012302	stop gained	-	NC_000002.12:g.227007378G>A	TOPMed
COL4A4	P53420	p.Ala1675Thr	rs187786164	missense variant	-	NC_000002.12:g.227007375C>T	1000Genomes
COL4A4	P53420	p.Ala1675Asp	rs1238651473	missense variant	-	NC_000002.12:g.227007374G>T	TOPMed
COL4A4	P53420	p.Gln1676His	rs1386161762	missense variant	-	NC_000002.12:g.227007370T>G	gnomAD
COL4A4	P53420	p.Arg1677Cys	rs759631057	missense variant	-	NC_000002.12:g.227007369G>A	NCI-TCGA,NCI-TCGA Cosmic
COL4A4	P53420	p.Arg1677Ser	rs759631057	missense variant	-	NC_000002.12:g.227007369G>T	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1677His	rs754121251	missense variant	-	NC_000002.12:g.227007368C>T	ExAC,gnomAD
COL4A4	P53420	p.Arg1677Cys	rs759631057	missense variant	-	NC_000002.12:g.227007369G>A	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1677Cys	RCV000665534	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007369G>A	ClinVar
COL4A4	P53420	p.Lys1679Arg	COSM1405927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007362T>C	NCI-TCGA Cosmic
COL4A4	P53420	p.Ile1680Thr	rs1343051499	missense variant	-	NC_000002.12:g.227007359A>G	gnomAD
COL4A4	P53420	p.Ser1681Arg	COSM1017278	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227007357T>G	NCI-TCGA Cosmic
COL4A4	P53420	p.Ser1681Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227007357T>A	NCI-TCGA
COL4A4	P53420	p.Arg1682Gln	RCV000516925	missense variant	-	NC_000002.12:g.227007353C>T	ClinVar
COL4A4	P53420	p.Arg1682Gln	rs368404711	missense variant	-	NC_000002.12:g.227007353C>T	ESP,ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Arg1682Trp	rs766550724	missense variant	-	NC_000002.12:g.227007354G>A	ExAC,gnomAD
COL4A4	P53420	p.Arg1682Trp	RCV000735753	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227007354G>A	ClinVar
COL4A4	P53420	p.Cys1683Tyr	RCV000669331	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007350C>T	ClinVar
COL4A4	P53420	p.Cys1683Tyr	rs1386495377	missense variant	-	NC_000002.12:g.227007350C>T	TOPMed,gnomAD
COL4A4	P53420	p.Val1687Leu	rs773342435	missense variant	-	NC_000002.12:g.227007339C>G	ExAC,gnomAD
COL4A4	P53420	p.Val1687Met	rs773342435	missense variant	-	NC_000002.12:g.227007339C>T	ExAC,gnomAD
COL4A4	P53420	p.Lys1688Asn	rs768552485	missense variant	-	NC_000002.12:g.227007334C>A	ExAC,gnomAD
COL4A4	P53420	p.Ser1690Arg	rs762885668	missense variant	-	NC_000002.12:g.227007328G>C	ExAC,gnomAD
COL4A4	P53420	p.Ter1691Tyr	RCV000667473	stop lost	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227007325C>G	ClinVar
COL4A4	P53420	p.Ter1691Tyr	rs769660371	stop lost	-	NC_000002.12:g.227007325C>G	ExAC,TOPMed,gnomAD
COL4A4	P53420	p.Ter1691Gln	rs374497352	stop lost	-	NC_000002.12:g.227007327A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Met1Leu	RCV000674307	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747393A>C	ClinVar
BLM	P54132	p.Met1Thr	RCV000412038	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747394T>C	ClinVar
BLM	P54132	p.Ala3Gly	rs200399224	missense variant	-	NC_000015.10:g.90747400C>G	ExAC,gnomAD
BLM	P54132	p.Val4Asp	rs144706057	missense variant	-	NC_000015.10:g.90747403T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Val4Ile	rs1466614215	missense variant	-	NC_000015.10:g.90747402G>A	gnomAD
BLM	P54132	p.Val4Ala	RCV000210906	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747403T>C	ClinVar
BLM	P54132	p.Val4Ala	rs144706057	missense variant	-	NC_000015.10:g.90747403T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Val4Phe	COSM3505417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90747402G>T	NCI-TCGA Cosmic
BLM	P54132	p.Pro5Leu	RCV000709353	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747406C>T	ClinVar
BLM	P54132	p.Pro5Ser	rs760982604	missense variant	-	NC_000015.10:g.90747405C>T	ExAC
BLM	P54132	p.Gln6Arg	rs1248128883	missense variant	-	NC_000015.10:g.90747409A>G	gnomAD
BLM	P54132	p.Asn8Lys	RCV000469793	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747416T>G	ClinVar
BLM	P54132	p.Asn8Lys	rs1060500635	missense variant	-	NC_000015.10:g.90747416T>G	-
BLM	P54132	p.Leu9Pro	rs1189105027	missense variant	-	NC_000015.10:g.90747418T>C	gnomAD
BLM	P54132	p.Gln10Ter	rs776826506	stop gained	-	NC_000015.10:g.90747420C>T	ExAC,gnomAD
BLM	P54132	p.Glu14Gly	rs759714714	missense variant	-	NC_000015.10:g.90747433A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg15Cys	rs148545569	missense variant	-	NC_000015.10:g.90747435C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg15His	RCV000779839	missense variant	-	NC_000015.10:g.90747436G>A	ClinVar
BLM	P54132	p.Arg15Ser	rs148545569	missense variant	-	NC_000015.10:g.90747435C>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg15His	rs752755503	missense variant	-	NC_000015.10:g.90747436G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg15His	RCV000463869	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747436G>A	ClinVar
BLM	P54132	p.Arg15Cys	rs148545569	missense variant	-	NC_000015.10:g.90747435C>T	NCI-TCGA
BLM	P54132	p.Arg15Cys	RCV000227410	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747435C>T	ClinVar
BLM	P54132	p.Arg19Ser	RCV000560243	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747449A>T	ClinVar
BLM	P54132	p.Arg19Ser	rs1555418008	missense variant	-	NC_000015.10:g.90747449A>T	-
BLM	P54132	p.Asn22Asp	rs1370338581	missense variant	-	NC_000015.10:g.90747456A>G	gnomAD
BLM	P54132	p.Leu27Ile	rs1368566341	missense variant	-	NC_000015.10:g.90747471C>A	gnomAD
BLM	P54132	p.Pro30Gln	rs1223618819	missense variant	-	NC_000015.10:g.90747481C>A	gnomAD
BLM	P54132	p.Pro30Leu	COSM217089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90747481C>T	NCI-TCGA Cosmic
BLM	P54132	p.Pro30Arg	COSM120022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90747481C>G	NCI-TCGA Cosmic
BLM	P54132	p.Ser33Leu	RCV000531703	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90747490C>T	ClinVar
BLM	P54132	p.Ser33Pro	rs1286825856	missense variant	-	NC_000015.10:g.90747489T>C	gnomAD
BLM	P54132	p.Ser33Leu	rs139282091	missense variant	-	NC_000015.10:g.90747490C>T	NCI-TCGA
BLM	P54132	p.Ser33Leu	rs139282091	missense variant	-	NC_000015.10:g.90747490C>T	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser33Leu	RCV000568835	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90747490C>T	ClinVar
BLM	P54132	p.Thr41Ile	rs533736036	missense variant	-	NC_000015.10:g.90749390C>T	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser42Tyr	rs763065919	missense variant	-	NC_000015.10:g.90749393C>A	ExAC,gnomAD
BLM	P54132	p.Ser42Pro	rs1291378382	missense variant	-	NC_000015.10:g.90749392T>C	gnomAD
BLM	P54132	p.Ser42Pro	RCV000628623	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749392T>C	ClinVar
BLM	P54132	p.Ser42Pro	RCV000575777	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749392T>C	ClinVar
BLM	P54132	p.Asp44Tyr	RCV000670432	insertion	Bloom syndrome (BLM)	NC_000015.10:g.90749397_90749398insTAT	ClinVar
BLM	P54132	p.Asp44Tyr	rs1249086421	missense variant	-	NC_000015.10:g.90749398G>T	gnomAD
BLM	P54132	p.Asn45Ser	RCV000529582	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749402A>G	ClinVar
BLM	P54132	p.Asn45Ser	rs1555418242	missense variant	-	NC_000015.10:g.90749402A>G	-
BLM	P54132	p.Asn46Ser	rs1237910576	missense variant	-	NC_000015.10:g.90749405A>G	TOPMed
BLM	P54132	p.Asn46Ser	RCV000699899	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749405A>G	ClinVar
BLM	P54132	p.Ser48Phe	COSM3505418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749411C>T	NCI-TCGA Cosmic
BLM	P54132	p.Val49Ile	rs558379347	missense variant	-	NC_000015.10:g.90749413G>A	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Ser53Thr	rs1555418248	missense variant	-	NC_000015.10:g.90749425T>A	-
BLM	P54132	p.Ser53Thr	RCV000525338	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749425T>A	ClinVar
BLM	P54132	p.Lys56Arg	rs1222785570	missense variant	-	NC_000015.10:g.90749435A>G	TOPMed,gnomAD
BLM	P54132	p.Leu60Ile	RCV000330317	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749446T>A	ClinVar
BLM	P54132	p.Leu60Ile	rs138542210	missense variant	-	NC_000015.10:g.90749446T>A	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg61Ile	RCV000465204	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749450G>T	ClinVar
BLM	P54132	p.Arg61Thr	rs1060500644	missense variant	-	NC_000015.10:g.90749450G>C	gnomAD
BLM	P54132	p.Arg61Ile	rs1060500644	missense variant	-	NC_000015.10:g.90749450G>T	gnomAD
BLM	P54132	p.Arg61Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749450G>A	NCI-TCGA
BLM	P54132	p.Asn62Lys	rs146735953	missense variant	-	NC_000015.10:g.90749454T>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn62Lys	RCV000546483	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749454T>G	ClinVar
BLM	P54132	p.Asp64Ala	rs140382474	missense variant	-	NC_000015.10:g.90749459A>C	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp64Ala	RCV000552084	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749459A>C	ClinVar
BLM	P54132	p.Asp64Val	rs140382474	missense variant	-	NC_000015.10:g.90749459A>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp64Gly	rs140382474	missense variant	-	NC_000015.10:g.90749459A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp64Gly	RCV000503861	missense variant	-	NC_000015.10:g.90749459A>G	ClinVar
BLM	P54132	p.Asp64Val	RCV000574815	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749459A>T	ClinVar
BLM	P54132	p.Asp64Ala	RCV000360928	missense variant	-	NC_000015.10:g.90749459A>C	ClinVar
BLM	P54132	p.Val67Asp	RCV000564482	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749468T>A	ClinVar
BLM	P54132	p.Val67Asp	rs1555418261	missense variant	-	NC_000015.10:g.90749468T>A	-
BLM	P54132	p.Thr68Asn	rs144134597	missense variant	-	NC_000015.10:g.90749471C>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu69Ter	rs746195311	stop gained	-	NC_000015.10:g.90749473G>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu69Lys	rs746195311	missense variant	-	NC_000015.10:g.90749473G>A	NCI-TCGA,NCI-TCGA Cosmic
BLM	P54132	p.Glu69Lys	RCV000171242	missense variant	-	NC_000015.10:g.90749473G>A	ClinVar
BLM	P54132	p.Glu69Lys	rs746195311	missense variant	-	NC_000015.10:g.90749473G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu69Ter	RCV000579258	nonsense	-	NC_000015.10:g.90749473G>T	ClinVar
BLM	P54132	p.Asp70Asn	rs769957028	missense variant	-	NC_000015.10:g.90749476G>A	ExAC,gnomAD
BLM	P54132	p.Asp70Asn	RCV000628617	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749476G>A	ClinVar
BLM	P54132	p.Asp70Tyr	rs769957028	missense variant	-	NC_000015.10:g.90749476G>T	ExAC,gnomAD
BLM	P54132	p.Ser72Ter	RCV000534534	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749481_90749482del	ClinVar
BLM	P54132	p.Ser72Ala	rs146521411	missense variant	-	NC_000015.10:g.90749482T>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser74Ile	rs763193533	missense variant	-	NC_000015.10:g.90749489G>T	ExAC,gnomAD
BLM	P54132	p.Glu75Gln	rs1205667946	missense variant	-	NC_000015.10:g.90749491G>C	gnomAD
BLM	P54132	p.Glu75Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749491G>A	NCI-TCGA
BLM	P54132	p.Pro76Ser	rs768843912	missense variant	-	NC_000015.10:g.90749494C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro76Leu	rs774515970	missense variant	-	NC_000015.10:g.90749495C>T	ExAC,gnomAD
BLM	P54132	p.Pro76Ser	RCV000628621	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749494C>T	ClinVar
BLM	P54132	p.Pro76Thr	rs768843912	missense variant	-	NC_000015.10:g.90749494C>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro76Ser	RCV000565575	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749494C>T	ClinVar
BLM	P54132	p.Pro76Thr	RCV000547942	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749494C>A	ClinVar
BLM	P54132	p.Leu77Val	RCV000628647	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749497C>G	ClinVar
BLM	P54132	p.Leu77Arg	rs1189540324	missense variant	-	NC_000015.10:g.90749498T>G	gnomAD
BLM	P54132	p.Leu77Val	rs1555418283	missense variant	-	NC_000015.10:g.90749497C>G	-
BLM	P54132	p.Pro78Ser	rs1449002455	missense variant	-	NC_000015.10:g.90749500C>T	gnomAD
BLM	P54132	p.Thr80Ala	RCV000555676	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749506A>G	ClinVar
BLM	P54132	p.Thr80Asn	rs766303926	missense variant	-	NC_000015.10:g.90749507C>A	ExAC,gnomAD
BLM	P54132	p.Thr80Ala	rs1555418290	missense variant	-	NC_000015.10:g.90749506A>G	-
BLM	P54132	p.Thr81Ala	RCV000457396	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749509A>G	ClinVar
BLM	P54132	p.Thr81Ala	rs1060500637	missense variant	-	NC_000015.10:g.90749509A>G	-
BLM	P54132	p.Asn82Ser	RCV000628614	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749513A>G	ClinVar
BLM	P54132	p.Asn82Ser	rs1555418292	missense variant	-	NC_000015.10:g.90749513A>G	-
BLM	P54132	p.Gln83Arg	rs377192173	missense variant	-	NC_000015.10:g.90749516A>G	ESP,TOPMed,gnomAD
BLM	P54132	p.Gln83Arg	RCV000628616	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749516A>G	ClinVar
BLM	P54132	p.Arg85Thr	rs141503266	missense variant	-	NC_000015.10:g.90749522G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg85Thr	RCV000226920	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749522G>C	ClinVar
BLM	P54132	p.Arg85Ser	COSM69824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749523G>T	NCI-TCGA Cosmic
BLM	P54132	p.Asp88Glu	rs757984551	missense variant	-	NC_000015.10:g.90749532C>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp88Glu	RCV000812053	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749532C>A	ClinVar
BLM	P54132	p.Asp88Tyr	rs752379441	missense variant	-	NC_000015.10:g.90749530G>T	ExAC,gnomAD
BLM	P54132	p.Asp88Glu	RCV000572396	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749532C>A	ClinVar
BLM	P54132	p.Phe89Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749533T>C	NCI-TCGA
BLM	P54132	p.Asn92Asp	rs200690226	missense variant	-	NC_000015.10:g.90749542A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn92Asp	RCV000203080	missense variant	-	NC_000015.10:g.90749542A>G	ClinVar
BLM	P54132	p.Asn92Asp	RCV000561733	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749542A>G	ClinVar
BLM	P54132	p.Asn92Asp	RCV000656777	missense variant	-	NC_000015.10:g.90749542A>G	ClinVar
BLM	P54132	p.Asn92Asp	RCV000462198	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749542A>G	ClinVar
BLM	P54132	p.Ala93Asp	COSM966521	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749546C>A	NCI-TCGA Cosmic
BLM	P54132	p.Pro94Ser	RCV000706284	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749548C>T	ClinVar
BLM	P54132	p.Pro94Ser	rs1417089374	missense variant	-	NC_000015.10:g.90749548C>T	TOPMed
BLM	P54132	p.Ala95Glu	rs751028188	missense variant	-	NC_000015.10:g.90749552C>A	ExAC,gnomAD
BLM	P54132	p.Gln97His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749559G>T	NCI-TCGA
BLM	P54132	p.Glu98Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749561A>G	NCI-TCGA
BLM	P54132	p.Thr99Ala	rs757784182	missense variant	-	NC_000015.10:g.90749563A>G	ExAC,gnomAD
BLM	P54132	p.Gln100GluPheSerTerUnkUnk	rs745807085	frameshift	-	NC_000015.10:g.90749563_90749564AC>-	NCI-TCGA
BLM	P54132	p.Gln100Leu	rs1201949546	missense variant	-	NC_000015.10:g.90749567A>T	gnomAD
BLM	P54132	p.Gln100His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749568G>T	NCI-TCGA
BLM	P54132	p.Gln100Ter	RCV000411055	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749564_90749565CA[1]	ClinVar
BLM	P54132	p.Arg101Lys	rs781707344	missense variant	-	NC_000015.10:g.90749570G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg101Thr	rs781707344	missense variant	-	NC_000015.10:g.90749570G>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly102Ser	rs1215126785	missense variant	-	NC_000015.10:g.90749572G>A	TOPMed
BLM	P54132	p.Gly102Asp	rs1186813751	missense variant	-	NC_000015.10:g.90749573G>A	gnomAD
BLM	P54132	p.Ser104Leu	RCV000463860	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749579C>T	ClinVar
BLM	P54132	p.Ser106Leu	rs1250007850	missense variant	-	NC_000015.10:g.90749585C>T	gnomAD
BLM	P54132	p.Leu107Ter	RCV000477306	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749588dup	ClinVar
BLM	P54132	p.Leu108Phe	rs1198433222	missense variant	-	NC_000015.10:g.90749592G>T	gnomAD
BLM	P54132	p.Leu108Phe	rs1198433222	missense variant	-	NC_000015.10:g.90749592G>C	gnomAD
BLM	P54132	p.Leu108Phe	rs1198433222	missense variant	-	NC_000015.10:g.90749592G>T	NCI-TCGA
BLM	P54132	p.Pro109Arg	RCV000628668	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749594C>G	ClinVar
BLM	P54132	p.Pro109Arg	rs1555418317	missense variant	-	NC_000015.10:g.90749594C>G	-
BLM	P54132	p.Asp110Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749596G>A	NCI-TCGA
BLM	P54132	p.Asp110Gly	rs1292239409	missense variant	-	NC_000015.10:g.90749597A>G	TOPMed
BLM	P54132	p.Thr114Ile	rs1376113548	missense variant	-	NC_000015.10:g.90749609C>T	gnomAD
BLM	P54132	p.Pro115Thr	rs1173491187	missense variant	-	NC_000015.10:g.90749611C>A	TOPMed,gnomAD
BLM	P54132	p.Pro115Ser	rs1173491187	missense variant	-	NC_000015.10:g.90749611C>T	TOPMed,gnomAD
BLM	P54132	p.Pro115Ser	RCV000696119	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749611C>T	ClinVar
BLM	P54132	p.Pro115Leu	rs371100621	missense variant	-	NC_000015.10:g.90749612C>T	ESP,ExAC,gnomAD
BLM	P54132	p.Lys116Asn	rs749535664	missense variant	-	NC_000015.10:g.90749616G>C	ExAC
BLM	P54132	p.Val118Ala	rs768933887	missense variant	-	NC_000015.10:g.90749621T>C	ExAC,gnomAD
BLM	P54132	p.Thr121Ser	RCV000702659	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749630C>G	ClinVar
BLM	P54132	p.Thr121Pro	rs774608080	missense variant	-	NC_000015.10:g.90749629A>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln123Arg	RCV000473466	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749636A>G	ClinVar
BLM	P54132	p.Gln123Arg	RCV000115311	missense variant	-	NC_000015.10:g.90749636A>G	ClinVar
BLM	P54132	p.Gln123Arg	rs371223446	missense variant	-	NC_000015.10:g.90749636A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn124Ser	rs770825975	missense variant	-	NC_000015.10:g.90749639A>G	ExAC,gnomAD
BLM	P54132	p.Asn124LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90749635_90749636insA	NCI-TCGA
BLM	P54132	p.Asn124Ser	RCV000628679	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749639A>G	ClinVar
BLM	P54132	p.Thr125Ile	rs1275199681	missense variant	-	NC_000015.10:g.90749642C>T	gnomAD
BLM	P54132	p.Thr125Pro	COSM471242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749641A>C	NCI-TCGA Cosmic
BLM	P54132	p.Pro126Ser	rs587778106	missense variant	-	NC_000015.10:g.90749644C>T	TOPMed
BLM	P54132	p.Pro126Leu	RCV000466017	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749645C>T	ClinVar
BLM	P54132	p.Pro126Leu	rs1060500650	missense variant	-	NC_000015.10:g.90749645C>T	TOPMed,gnomAD
BLM	P54132	p.Pro126Ala	rs587778106	missense variant	-	NC_000015.10:g.90749644C>G	TOPMed
BLM	P54132	p.Pro126Ala	RCV000120238	missense variant	-	NC_000015.10:g.90749644C>G	ClinVar
BLM	P54132	p.Thr127Ala	rs528474170	missense variant	-	NC_000015.10:g.90749647A>G	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Val128Leu	rs1269873284	missense variant	-	NC_000015.10:g.90749650G>C	TOPMed,gnomAD
BLM	P54132	p.Val128Ile	rs1269873284	missense variant	-	NC_000015.10:g.90749650G>A	TOPMed,gnomAD
BLM	P54132	p.Lys130Asn	rs1050583942	missense variant	-	NC_000015.10:g.90749658A>T	gnomAD
BLM	P54132	p.Arg132Trp	rs765089689	missense variant	-	NC_000015.10:g.90749662C>T	NCI-TCGA,NCI-TCGA Cosmic
BLM	P54132	p.Arg132Trp	rs765089689	missense variant	-	NC_000015.10:g.90749662C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg132Gln	rs775197136	missense variant	-	NC_000015.10:g.90749663G>A	ExAC,gnomAD
BLM	P54132	p.Asp133Asn	rs762621627	missense variant	-	NC_000015.10:g.90749665G>A	ExAC,gnomAD
BLM	P54132	p.Ala135Ser	rs373832397	missense variant	-	NC_000015.10:g.90749671G>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala135Ser	RCV000465705	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749671G>T	ClinVar
BLM	P54132	p.Ala135Ser	RCV000566329	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749671G>T	ClinVar
BLM	P54132	p.Ala135Ser	RCV000115316	missense variant	-	NC_000015.10:g.90749671G>T	ClinVar
BLM	P54132	p.Lys137Arg	rs28384988	missense variant	-	NC_000015.10:g.90749678A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys137Arg	RCV000437672	missense variant	-	NC_000015.10:g.90749678A>G	ClinVar
BLM	P54132	p.Glu140Gly	rs35886055	missense variant	-	NC_000015.10:g.90749687A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu140Gly	RCV000234547	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749687A>G	ClinVar
BLM	P54132	p.Ser142IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90749692_90749693insTCAG	NCI-TCGA
BLM	P54132	p.Ser143Tyr	rs1488217859	missense variant	-	NC_000015.10:g.90749696C>A	TOPMed,gnomAD
BLM	P54132	p.Ser143Thr	rs1478358253	missense variant	-	NC_000015.10:g.90749695T>A	TOPMed
BLM	P54132	p.Pro145Ala	rs1555418335	missense variant	-	NC_000015.10:g.90749701C>G	-
BLM	P54132	p.Pro145Ala	RCV000547133	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749701C>G	ClinVar
BLM	P54132	p.Asp146Val	rs902876126	missense variant	-	NC_000015.10:g.90749705A>T	TOPMed,gnomAD
BLM	P54132	p.Asp146Val	RCV000564374	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749705A>T	ClinVar
BLM	P54132	p.Asp146Val	RCV000791833	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749705A>T	ClinVar
BLM	P54132	p.Ser147Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749708C>A	NCI-TCGA
BLM	P54132	p.Leu148Ter	RCV000411717	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749711dup	ClinVar
BLM	P54132	p.Ser149Asn	rs750929735	missense variant	-	NC_000015.10:g.90749714G>A	ExAC,gnomAD
BLM	P54132	p.Thr150Ala	RCV000704430	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749716A>G	ClinVar
BLM	P54132	p.Thr150Ile	COSM471243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749717C>T	NCI-TCGA Cosmic
BLM	P54132	p.Ile151Val	RCV000231372	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749719A>G	ClinVar
BLM	P54132	p.Ile151Val	rs780472557	missense variant	-	NC_000015.10:g.90749719A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn152Ser	rs749633106	missense variant	-	NC_000015.10:g.90749723A>G	ExAC,gnomAD
BLM	P54132	p.Asp153His	RCV000557191	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749725G>C	ClinVar
BLM	P54132	p.Asp153His	rs368158276	missense variant	-	NC_000015.10:g.90749725G>C	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp153Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749725G>T	NCI-TCGA
BLM	P54132	p.Trp154Arg	rs1226287991	missense variant	-	NC_000015.10:g.90749728T>C	gnomAD
BLM	P54132	p.Asp156Gly	rs772175681	missense variant	-	NC_000015.10:g.90749735A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Met157Thr	rs773103759	missense variant	-	NC_000015.10:g.90749738T>C	ExAC,gnomAD
BLM	P54132	p.Met157Ile	rs1489481588	missense variant	-	NC_000015.10:g.90749739G>A	gnomAD
BLM	P54132	p.Asp158Asn	rs1210664602	missense variant	-	NC_000015.10:g.90749740G>A	gnomAD
BLM	P54132	p.Asp159Ter	RCV000673428	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90749747_90749748del	ClinVar
BLM	P54132	p.Asp159Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749745C>A	NCI-TCGA
BLM	P54132	p.Phe160Ser	rs147084654	missense variant	-	NC_000015.10:g.90749747T>C	1000Genomes,ESP,TOPMed
BLM	P54132	p.Ser163Phe	rs745819553	missense variant	-	NC_000015.10:g.90749756C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser163Phe	RCV000460104	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749756C>T	ClinVar
BLM	P54132	p.Glu164Ala	rs1555418365	missense variant	-	NC_000015.10:g.90749759A>C	-
BLM	P54132	p.Glu164Ter	rs1052258023	stop gained	-	NC_000015.10:g.90749758G>T	TOPMed
BLM	P54132	p.Glu164Ala	RCV000628615	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749759A>C	ClinVar
BLM	P54132	p.Thr165Ser	rs769575660	missense variant	-	NC_000015.10:g.90749761A>T	ExAC,gnomAD
BLM	P54132	p.Ser166Leu	rs896357448	missense variant	-	NC_000015.10:g.90749765C>T	TOPMed
BLM	P54132	p.Lys167Glu	rs775285496	missense variant	-	NC_000015.10:g.90749767A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys167Glu	RCV000628641	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749767A>G	ClinVar
BLM	P54132	p.Phe169Cys	rs1013299710	missense variant	-	NC_000015.10:g.90749774T>G	TOPMed
BLM	P54132	p.Phe169Cys	RCV000535364	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749774T>G	ClinVar
BLM	P54132	p.Pro172Leu	rs1366240473	missense variant	-	NC_000015.10:g.90749783C>T	gnomAD
BLM	P54132	p.Pro172Ala	rs1163233988	missense variant	-	NC_000015.10:g.90749782C>G	gnomAD
BLM	P54132	p.Pro173His	rs762713320	missense variant	-	NC_000015.10:g.90749786C>A	ExAC,gnomAD
BLM	P54132	p.Pro173Leu	rs762713320	missense variant	-	NC_000015.10:g.90749786C>T	ExAC,gnomAD
BLM	P54132	p.Pro173Ser	rs1458936595	missense variant	-	NC_000015.10:g.90749785C>T	gnomAD
BLM	P54132	p.Ser175Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749792G>T	NCI-TCGA
BLM	P54132	p.Phe177Val	rs1369548679	missense variant	-	NC_000015.10:g.90749797T>G	gnomAD
BLM	P54132	p.Val178Ile	RCV000709355	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749800G>A	ClinVar
BLM	P54132	p.Val178Ile	rs1191794374	missense variant	-	NC_000015.10:g.90749800G>A	TOPMed
BLM	P54132	p.Arg179Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749804G>T	NCI-TCGA
BLM	P54132	p.Ser181Ile	rs587779893	missense variant	-	NC_000015.10:g.90749810G>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser181Arg	rs761288442	missense variant	-	NC_000015.10:g.90749811C>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser181Ile	RCV000567877	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749810G>T	ClinVar
BLM	P54132	p.Ser181Arg	RCV000472724	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749811C>A	ClinVar
BLM	P54132	p.Ser181Ile	RCV000464245	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749810G>T	ClinVar
BLM	P54132	p.Ser181Ter	RCV000674476	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749811del	ClinVar
BLM	P54132	p.Ser181Ile	RCV000115320	missense variant	-	NC_000015.10:g.90749810G>T	ClinVar
BLM	P54132	p.Thr182Ile	rs749838731	missense variant	-	NC_000015.10:g.90749813C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr182Ala	RCV000473044	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749812A>G	ClinVar
BLM	P54132	p.Thr182Ser	rs749838731	missense variant	-	NC_000015.10:g.90749813C>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr182Ala	rs1060500643	missense variant	-	NC_000015.10:g.90749812A>G	gnomAD
BLM	P54132	p.Thr182Ile	RCV000563326	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749813C>T	ClinVar
BLM	P54132	p.Ala183Asp	rs756676685	missense variant	-	NC_000015.10:g.90749816C>A	ExAC,gnomAD
BLM	P54132	p.Ala183Val	rs756676685	missense variant	-	NC_000015.10:g.90749816C>T	ExAC,gnomAD
BLM	P54132	p.Gln184Lys	rs971200482	missense variant	-	NC_000015.10:g.90749818C>A	gnomAD
BLM	P54132	p.Gln184Glu	rs971200482	missense variant	-	NC_000015.10:g.90749818C>G	gnomAD
BLM	P54132	p.Gln184Glu	rs971200482	missense variant	-	NC_000015.10:g.90749818C>G	NCI-TCGA Cosmic
BLM	P54132	p.Gln184Leu	COSM702120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749819A>T	NCI-TCGA Cosmic
BLM	P54132	p.Lys185Asn	rs766947105	missense variant	-	NC_000015.10:g.90749823A>T	ExAC,gnomAD
BLM	P54132	p.Ser186Pro	rs1253019128	missense variant	-	NC_000015.10:g.90749824T>C	gnomAD
BLM	P54132	p.SerLys186Ter	rs367543035	stop gained	Bloom syndrome (blm)	NC_000015.10:g.90749825_90749827del	-
BLM	P54132	p.Ser186Ter	RCV000005788	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90749825_90749827del	ClinVar
BLM	P54132	p.Ser186Thr	rs1253019128	missense variant	-	NC_000015.10:g.90749824T>A	gnomAD
BLM	P54132	p.Ser186Ter	rs1342383599	stop gained	-	NC_000015.10:g.90749825C>A	TOPMed,gnomAD
BLM	P54132	p.Lys188Arg	rs907949967	missense variant	-	NC_000015.10:g.90749831A>G	NCI-TCGA
BLM	P54132	p.Lys188Arg	rs907949967	missense variant	-	NC_000015.10:g.90749831A>G	gnomAD
BLM	P54132	p.Gly189Ser	rs1180631656	missense variant	-	NC_000015.10:g.90749833G>A	gnomAD
BLM	P54132	p.Gly189Asp	rs754306004	missense variant	-	NC_000015.10:g.90749834G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly189Cys	rs1180631656	missense variant	-	NC_000015.10:g.90749833G>T	gnomAD
BLM	P54132	p.Arg191Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749839A>G	NCI-TCGA
BLM	P54132	p.Arg191Ile	rs569086568	missense variant	-	NC_000015.10:g.90749840G>T	NCI-TCGA
BLM	P54132	p.Arg191Ile	RCV000545717	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749840G>T	ClinVar
BLM	P54132	p.Arg191Ile	rs569086568	missense variant	-	NC_000015.10:g.90749840G>T	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Phe193Leu	rs779348937	missense variant	-	NC_000015.10:g.90749845T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Phe193Ter	RCV000169422	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90749849_90749850del	ClinVar
BLM	P54132	p.Ala196Thr	RCV000693622	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749854G>A	ClinVar
BLM	P54132	p.Leu198Val	rs1346738369	missense variant	-	NC_000015.10:g.90749860C>G	TOPMed
BLM	P54132	p.Thr201Ile	rs1448734613	missense variant	-	NC_000015.10:g.90749870C>T	TOPMed
BLM	P54132	p.Thr201Lys	rs1448734613	missense variant	-	NC_000015.10:g.90749870C>A	TOPMed
BLM	P54132	p.Asn202Asp	rs587779894	missense variant	-	NC_000015.10:g.90749872A>G	-
BLM	P54132	p.Asn202Asp	RCV000115321	missense variant	-	NC_000015.10:g.90749872A>G	ClinVar
BLM	P54132	p.Thr203Ala	rs1060500633	missense variant	-	NC_000015.10:g.90749875A>G	TOPMed,gnomAD
BLM	P54132	p.Thr203Ala	RCV000469358	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749875A>G	ClinVar
BLM	P54132	p.Thr203Ter	RCV000669465	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749874_90749875CA[1]	ClinVar
BLM	P54132	p.Val204Ile	rs1360806507	missense variant	-	NC_000015.10:g.90749878G>A	TOPMed
BLM	P54132	p.Thr206Asn	rs932261711	missense variant	-	NC_000015.10:g.90749885C>A	gnomAD
BLM	P54132	p.Leu208Trp	rs1555418411	missense variant	-	NC_000015.10:g.90749891T>G	-
BLM	P54132	p.Leu208Trp	RCV000534140	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749891T>G	ClinVar
BLM	P54132	p.Pro210Ala	rs1301077071	missense variant	-	NC_000015.10:g.90749896C>G	gnomAD
BLM	P54132	p.Pro211Leu	rs758478914	missense variant	-	NC_000015.10:g.90749900C>T	ExAC,gnomAD
BLM	P54132	p.Pro211Ala	rs1434144399	missense variant	-	NC_000015.10:g.90749899C>G	TOPMed
BLM	P54132	p.Ser212Phe	rs777938065	missense variant	-	NC_000015.10:g.90749903C>T	NCI-TCGA
BLM	P54132	p.Ser212Phe	RCV000628652	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749903C>T	ClinVar
BLM	P54132	p.Ser212Phe	rs777938065	missense variant	-	NC_000015.10:g.90749903C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu214Gly	rs1230930956	missense variant	-	NC_000015.10:g.90749909A>G	gnomAD
BLM	P54132	p.Ser215Arg	rs56218710	missense variant	-	NC_000015.10:g.90749913C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu216Lys	rs779934502	missense variant	-	NC_000015.10:g.90749914G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu216Lys	RCV000527173	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749914G>A	ClinVar
BLM	P54132	p.Gln217His	RCV000692452	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749919A>C	ClinVar
BLM	P54132	p.Gln217His	rs1258361408	missense variant	-	NC_000015.10:g.90749919A>T	gnomAD
BLM	P54132	p.Ile218Val	rs749148385	missense variant	-	NC_000015.10:g.90749920A>G	ExAC,gnomAD
BLM	P54132	p.Asp219Glu	RCV000686276	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749925T>G	ClinVar
BLM	P54132	p.Asp219Gly	rs1246909789	missense variant	-	NC_000015.10:g.90749924A>G	gnomAD
BLM	P54132	p.Asp219Ala	RCV000628655	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749924A>C	ClinVar
BLM	P54132	p.Asp219His	rs190228320	missense variant	-	NC_000015.10:g.90749923G>C	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Asp219Ala	rs1246909789	missense variant	-	NC_000015.10:g.90749924A>C	gnomAD
BLM	P54132	p.Asp219Glu	rs1447056195	missense variant	-	NC_000015.10:g.90749925T>G	gnomAD
BLM	P54132	p.Thr221Ter	RCV000411857	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90749930_90749933del	ClinVar
BLM	P54132	p.Thr221Asn	rs1407804704	missense variant	-	NC_000015.10:g.90749930C>A	TOPMed
BLM	P54132	p.Glu222Lys	rs774075577	missense variant	-	NC_000015.10:g.90749932G>A	ExAC,gnomAD
BLM	P54132	p.Glu223Ter	rs761533210	stop gained	-	NC_000015.10:g.90749935G>T	ExAC,gnomAD
BLM	P54132	p.Gln224Arg	rs770111029	missense variant	-	NC_000015.10:g.90749939A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln224Pro	rs770111029	missense variant	-	NC_000015.10:g.90749939A>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln224Ter	rs918752814	stop gained	-	NC_000015.10:g.90749938C>T	TOPMed
BLM	P54132	p.Gln224Pro	RCV000471562	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749939A>C	ClinVar
BLM	P54132	p.Gln224Arg	RCV000229061	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749939A>G	ClinVar
BLM	P54132	p.Asp227Asn	RCV000537210	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749947G>A	ClinVar
BLM	P54132	p.Asp227Asn	rs1555418427	missense variant	-	NC_000015.10:g.90749947G>A	-
BLM	P54132	p.Glu229Gln	RCV000628677	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749953G>C	ClinVar
BLM	P54132	p.Glu229Asp	rs1255971909	missense variant	-	NC_000015.10:g.90749955A>C	TOPMed
BLM	P54132	p.Glu229Gln	rs1555418428	missense variant	-	NC_000015.10:g.90749953G>C	-
BLM	P54132	p.Glu229Lys	COSM434540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90749953G>A	NCI-TCGA Cosmic
BLM	P54132	p.Trp230Arg	rs760084762	missense variant	-	NC_000015.10:g.90749956T>C	ExAC,gnomAD
BLM	P54132	p.Ser232Asn	rs1208103589	missense variant	-	NC_000015.10:g.90749963G>A	TOPMed
BLM	P54132	p.Ser232Arg	rs201845548	missense variant	-	NC_000015.10:g.90749964C>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser232Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90749962A>T	NCI-TCGA
BLM	P54132	p.Ser232Arg	RCV000115322	missense variant	-	NC_000015.10:g.90749964C>A	ClinVar
BLM	P54132	p.Ser232Arg	RCV000326657	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749964C>A	ClinVar
BLM	P54132	p.Asp234Asn	RCV000573223	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90749968G>A	ClinVar
BLM	P54132	p.Asp234Glu	rs1271054585	missense variant	-	NC_000015.10:g.90749970T>A	gnomAD
BLM	P54132	p.Asp234Asn	rs878853555	missense variant	-	NC_000015.10:g.90749968G>A	gnomAD
BLM	P54132	p.Asp234Asn	RCV000231511	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749968G>A	ClinVar
BLM	P54132	p.Val235Met	rs765696829	missense variant	-	NC_000015.10:g.90749971G>A	ExAC,gnomAD
BLM	P54132	p.Cys237Ser	rs1303887290	missense variant	-	NC_000015.10:g.90749978G>C	gnomAD
BLM	P54132	p.Asp239Asn	rs200756519	missense variant	-	NC_000015.10:g.90749983G>A	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp239Gly	rs751699247	missense variant	-	NC_000015.10:g.90749984A>G	ExAC,gnomAD
BLM	P54132	p.Asp239Gly	RCV000234230	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749984A>G	ClinVar
BLM	P54132	p.Asp239His	RCV000540527	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749983G>C	ClinVar
BLM	P54132	p.Asp239Asn	RCV000120240	missense variant	-	NC_000015.10:g.90749983G>A	ClinVar
BLM	P54132	p.Asp239His	rs200756519	missense variant	-	NC_000015.10:g.90749983G>C	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp240Gly	rs757324067	missense variant	-	NC_000015.10:g.90749987A>G	ExAC,gnomAD
BLM	P54132	p.Gly241Asp	rs200897029	missense variant	-	NC_000015.10:g.90749990G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly241Asp	RCV000628619	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749990G>A	ClinVar
BLM	P54132	p.Pro242Arg	RCV000458587	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749993C>G	ClinVar
BLM	P54132	p.Pro242Ser	rs768513523	missense variant	-	NC_000015.10:g.90749992C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro242Arg	rs1060500642	missense variant	-	NC_000015.10:g.90749993C>G	gnomAD
BLM	P54132	p.Ile243Val	rs201722470	missense variant	-	NC_000015.10:g.90749995A>G	ExAC,gnomAD
BLM	P54132	p.Ile243Thr	rs200000438	missense variant	-	NC_000015.10:g.90749996T>C	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile243Val	RCV000228074	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90749995A>G	ClinVar
BLM	P54132	p.Ala244Val	rs771809777	missense variant	-	NC_000015.10:g.90749999C>T	ExAC,gnomAD
BLM	P54132	p.Glu245Lys	rs772711706	missense variant	-	NC_000015.10:g.90750001G>A	ExAC
BLM	P54132	p.Glu245Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.90750001G>T	NCI-TCGA
BLM	P54132	p.Ile248Thr	rs1319055340	missense variant	-	NC_000015.10:g.90750011T>C	gnomAD
BLM	P54132	p.Ile248Leu	rs558524280	missense variant	-	NC_000015.10:g.90750010A>T	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile248Val	rs558524280	missense variant	-	NC_000015.10:g.90750010A>G	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn249Asp	rs1349320132	missense variant	-	NC_000015.10:g.90750013A>G	gnomAD
BLM	P54132	p.Asp251Val	RCV000628640	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90750020A>T	ClinVar
BLM	P54132	p.Asp251Val	rs1555418456	missense variant	-	NC_000015.10:g.90750020A>T	-
BLM	P54132	p.Glu254Lys	rs181892828	missense variant	-	NC_000015.10:g.90750028G>A	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Glu254Gln	rs181892828	missense variant	-	NC_000015.10:g.90750028G>C	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Ser255Gly	RCV000688739	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90750031A>G	ClinVar
BLM	P54132	p.Asp256Glu	rs765788538	missense variant	-	NC_000015.10:g.90750036C>A	ExAC,gnomAD
BLM	P54132	p.Leu258Ter	RCV000034918	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90750036_90750037CT[2]	ClinVar
BLM	P54132	p.His261Arg	RCV000526725	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90750050A>G	ClinVar
BLM	P54132	p.His261Arg	rs763166861	missense variant	-	NC_000015.10:g.90750050A>G	-
BLM	P54132	p.Asp264Asn	rs763195731	missense variant	-	NC_000015.10:g.90750058G>A	ExAC,gnomAD
BLM	P54132	p.Glu265Ter	rs751718191	stop gained	-	NC_000015.10:g.90750061G>T	ExAC,gnomAD
BLM	P54132	p.Glu265Gln	COSM3817060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90750061G>C	NCI-TCGA Cosmic
BLM	P54132	p.Asn268Ser	rs763432949	missense variant	-	NC_000015.10:g.90751790A>G	ExAC,gnomAD
BLM	P54132	p.Ser269Gly	rs141411463	missense variant	-	NC_000015.10:g.90751792A>G	ESP,ExAC,gnomAD
BLM	P54132	p.Ser269Gly	RCV000460269	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751792A>G	ClinVar
BLM	P54132	p.Ser269Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90751793G>C	NCI-TCGA
BLM	P54132	p.Glu270Lys	rs762053925	missense variant	-	NC_000015.10:g.90751795G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu270Lys	RCV000588275	missense variant	-	NC_000015.10:g.90751795G>A	ClinVar
BLM	P54132	p.Glu270Lys	RCV000570422	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90751795G>A	ClinVar
BLM	P54132	p.Glu270Lys	RCV000541320	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751795G>A	ClinVar
BLM	P54132	p.Lys273Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90751805A>G	NCI-TCGA
BLM	P54132	p.Lys273Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90751806G>T	NCI-TCGA
BLM	P54132	p.Asn274Asp	rs750551907	missense variant	-	NC_000015.10:g.90751807A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn274Tyr	rs750551907	missense variant	-	NC_000015.10:g.90751807A>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Leu275Phe	rs1386158170	missense variant	-	NC_000015.10:g.90751812G>C	TOPMed,gnomAD
BLM	P54132	p.Ala278Thr	rs1236952637	missense variant	-	NC_000015.10:g.90751819G>A	TOPMed
BLM	P54132	p.Glu279Ter	RCV000706208	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90751822G>T	ClinVar
BLM	P54132	p.Glu279Ala	rs1429363042	missense variant	-	NC_000015.10:g.90751823A>C	gnomAD
BLM	P54132	p.Glu279Ter	RCV000698648	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90751826_90751875del	ClinVar
BLM	P54132	p.Glu279Lys	COSM471244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90751822G>A	NCI-TCGA Cosmic
BLM	P54132	p.His281Arg	rs202042636	missense variant	-	NC_000015.10:g.90751829A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.His281Pro	rs202042636	missense variant	-	NC_000015.10:g.90751829A>C	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.His281Gln	RCV000691005	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751830T>G	ClinVar
BLM	P54132	p.His281Arg	RCV000529811	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751829A>G	ClinVar
BLM	P54132	p.His281Pro	RCV000120242	missense variant	-	NC_000015.10:g.90751829A>C	ClinVar
BLM	P54132	p.Thr283Ala	RCV000540157	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751834A>G	ClinVar
BLM	P54132	p.Thr283Ala	rs149598003	missense variant	-	NC_000015.10:g.90751834A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr283Ser	RCV000700387	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751835C>G	ClinVar
BLM	P54132	p.Thr283Ala	RCV000569169	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90751834A>G	ClinVar
BLM	P54132	p.Lys285Glu	rs1334137414	missense variant	-	NC_000015.10:g.90751840A>G	gnomAD
BLM	P54132	p.Val286Phe	rs758301305	missense variant	-	NC_000015.10:g.90751843G>T	ExAC,gnomAD
BLM	P54132	p.Val286Ile	rs758301305	missense variant	-	NC_000015.10:g.90751843G>A	ExAC,gnomAD
BLM	P54132	p.Pro287Ala	rs746748670	missense variant	-	NC_000015.10:g.90751846C>G	ExAC,gnomAD
BLM	P54132	p.Cys288Tyr	rs1260150929	missense variant	-	NC_000015.10:g.90751850G>A	TOPMed
BLM	P54132	p.Asp292Gly	COSM4057906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90751862A>G	NCI-TCGA Cosmic
BLM	P54132	p.Asp295Asn	rs146096923	missense variant	-	NC_000015.10:g.90751870G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp295Tyr	rs146096923	missense variant	-	NC_000015.10:g.90751870G>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp295Gly	rs769172522	missense variant	-	NC_000015.10:g.90751871A>G	ExAC,gnomAD
BLM	P54132	p.Asp295Tyr	rs146096923	missense variant	-	NC_000015.10:g.90751870G>T	NCI-TCGA
BLM	P54132	p.Tyr296Cys	RCV000460689	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751874A>G	ClinVar
BLM	P54132	p.Tyr296Cys	rs775005766	missense variant	-	NC_000015.10:g.90751874A>G	ExAC,gnomAD
BLM	P54132	p.Tyr296Phe	rs775005766	missense variant	-	NC_000015.10:g.90751874A>T	ExAC,gnomAD
BLM	P54132	p.Asp297Tyr	rs1196128608	missense variant	-	NC_000015.10:g.90751876G>T	gnomAD
BLM	P54132	p.Thr298Met	RCV000381515	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751880C>T	ClinVar
BLM	P54132	p.Thr298Met	rs28384991	missense variant	-	NC_000015.10:g.90751880C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp299Gly	rs1418306226	missense variant	-	NC_000015.10:g.90751883A>G	TOPMed,gnomAD
BLM	P54132	p.Asp299Asn	rs1243827792	missense variant	-	NC_000015.10:g.90751882G>A	TOPMed,gnomAD
BLM	P54132	p.Phe300Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90751886T>G	NCI-TCGA
BLM	P54132	p.Pro303Leu	rs1448898003	missense variant	-	NC_000015.10:g.90751895C>T	gnomAD
BLM	P54132	p.Ser304Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90751898C>A	NCI-TCGA
BLM	P54132	p.Pro305Arg	rs773421970	missense variant	-	NC_000015.10:g.90751901C>G	ExAC,gnomAD
BLM	P54132	p.Glu307Lys	rs766386787	missense variant	-	NC_000015.10:g.90751906G>A	ExAC,gnomAD
BLM	P54132	p.Ile308Asn	rs1400762946	missense variant	-	NC_000015.10:g.90751910T>A	gnomAD
BLM	P54132	p.Ser310Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90751916C>G	NCI-TCGA
BLM	P54132	p.Ser310CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90751915_90751916insG	NCI-TCGA
BLM	P54132	p.Ala311Ser	rs753911420	missense variant	-	NC_000015.10:g.90751918G>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala311Ser	RCV000572354	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90751918G>T	ClinVar
BLM	P54132	p.Ala311Ser	RCV000706298	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751918G>T	ClinVar
BLM	P54132	p.Ser312Ala	rs372454889	missense variant	-	NC_000015.10:g.90751921T>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser312Ala	RCV000543241	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90751921T>G	ClinVar
BLM	P54132	p.Ser314Phe	rs751438275	missense variant	-	NC_000015.10:g.90751928C>T	ExAC,gnomAD
BLM	P54132	p.Ser315Ter	RCV000674509	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90751929del	ClinVar
BLM	P54132	p.Leu319Phe	RCV000708673	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90751942C>T	ClinVar
BLM	P54132	p.Ser320Thr	rs757112333	missense variant	-	NC_000015.10:g.90751946G>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr321Met	rs755724766	missense variant	-	NC_000015.10:g.90754813C>T	ExAC,gnomAD
BLM	P54132	p.Lys323Arg	RCV000120244	missense variant	-	NC_000015.10:g.90754819A>G	ClinVar
BLM	P54132	p.Lys323Arg	rs146504061	missense variant	-	NC_000015.10:g.90754819A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp324Glu	rs769094708	missense variant	-	NC_000015.10:g.90754823C>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp326Asn	rs1013220474	missense variant	-	NC_000015.10:g.90754827G>A	TOPMed
BLM	P54132	p.Thr327Ser	rs748581308	missense variant	-	NC_000015.10:g.90754831C>G	ExAC,gnomAD
BLM	P54132	p.Thr327Asn	rs748581308	missense variant	-	NC_000015.10:g.90754831C>A	ExAC,gnomAD
BLM	P54132	p.Ser328Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90754834C>G	NCI-TCGA
BLM	P54132	p.Arg330Ser	rs1033769525	missense variant	-	NC_000015.10:g.90754841A>C	TOPMed,gnomAD
BLM	P54132	p.Lys331Thr	RCV000690690	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754843A>C	ClinVar
BLM	P54132	p.Lys331Ter	RCV000169224	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90754842_90754846del	ClinVar
BLM	P54132	p.Lys331Thr	rs1351404875	missense variant	-	NC_000015.10:g.90754843A>C	TOPMed,gnomAD
BLM	P54132	p.Asp333Gly	rs772415449	missense variant	-	NC_000015.10:g.90754849A>G	ExAC,gnomAD
BLM	P54132	p.Val334Ile	COSM966529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90754851G>A	NCI-TCGA Cosmic
BLM	P54132	p.LeuSer335LeuThrTerUnk	rs1057517359	stop gained	-	NC_000015.10:g.90754854_90754857dup	-
BLM	P54132	p.Leu335Val	rs1265514490	missense variant	-	NC_000015.10:g.90754854C>G	TOPMed,gnomAD
BLM	P54132	p.Leu335Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90754854C>T	NCI-TCGA
BLM	P54132	p.Ser336Gly	RCV000704784	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754857A>G	ClinVar
BLM	P54132	p.Ser336ThrTer	RCV000410940	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90754854_90754857dup	ClinVar
BLM	P54132	p.Thr337Ile	rs1176242752	missense variant	-	NC_000015.10:g.90754861C>T	TOPMed
BLM	P54132	p.Asp340Tyr	COSM966531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90754869G>T	NCI-TCGA Cosmic
BLM	P54132	p.Ser343Leu	rs759626611	missense variant	-	NC_000015.10:g.90754879C>T	ExAC,gnomAD
BLM	P54132	p.Ser343Ala	rs776620199	missense variant	-	NC_000015.10:g.90754878T>G	ExAC,gnomAD
BLM	P54132	p.Ser343Ala	RCV000556843	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754878T>G	ClinVar
BLM	P54132	p.Lys344Asn	rs148701303	missense variant	-	NC_000015.10:g.90754883A>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu346Ter	rs1162333482	stop gained	-	NC_000015.10:g.90754887G>T	gnomAD
BLM	P54132	p.Lys347Glu	rs375250788	missense variant	-	NC_000015.10:g.90754890A>G	ESP,TOPMed
BLM	P54132	p.Met348Val	rs1363297446	missense variant	-	NC_000015.10:g.90754893A>G	NCI-TCGA
BLM	P54132	p.Met348Ter	RCV000709358	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90754894dup	ClinVar
BLM	P54132	p.Met348Ile	RCV000461960	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754895G>A	ClinVar
BLM	P54132	p.Met348Ile	rs184657475	missense variant	-	NC_000015.10:g.90754895G>A	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Met348Val	rs1363297446	missense variant	-	NC_000015.10:g.90754893A>G	gnomAD
BLM	P54132	p.Met348Ile	rs184657475	missense variant	-	NC_000015.10:g.90754895G>T	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser349Asn	rs761783430	missense variant	-	NC_000015.10:g.90754897G>A	ExAC,gnomAD
BLM	P54132	p.Met350Ile	rs745469404	missense variant	-	NC_000015.10:g.90754901G>A	gnomAD
BLM	P54132	p.Met350Ile	rs745469404	missense variant	-	NC_000015.10:g.90754901G>A	NCI-TCGA,NCI-TCGA Cosmic
BLM	P54132	p.Gln351Arg	rs1389607101	missense variant	-	NC_000015.10:g.90754903A>G	TOPMed,gnomAD
BLM	P54132	p.Glu352Gly	rs767423456	missense variant	-	NC_000015.10:g.90754906A>G	ExAC,gnomAD
BLM	P54132	p.Glu352Lys	rs369583279	missense variant	-	NC_000015.10:g.90754905G>A	ESP
BLM	P54132	p.Pro355Arg	RCV000535187	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754915C>G	ClinVar
BLM	P54132	p.Pro355Arg	rs1022898915	missense variant	-	NC_000015.10:g.90754915C>G	TOPMed
BLM	P54132	p.Thr357Ile	rs1555419001	missense variant	-	NC_000015.10:g.90754921C>T	-
BLM	P54132	p.Thr357Ile	RCV000674782	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754921C>T	ClinVar
BLM	P54132	p.Ser358Asn	rs750203166	missense variant	-	NC_000015.10:g.90754924G>A	ExAC,gnomAD
BLM	P54132	p.Ser358Arg	rs1336484885	missense variant	-	NC_000015.10:g.90754923A>C	gnomAD
BLM	P54132	p.Thr359Pro	rs1332024999	missense variant	-	NC_000015.10:g.90754926A>C	gnomAD
BLM	P54132	p.Cys361Ter	RCV000412101	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90754932_90754933TG[1]	ClinVar
BLM	P54132	p.CysAsp361Ter	rs1057517030	stop gained	-	NC_000015.10:g.90754934_90754935del	gnomAD
BLM	P54132	p.Ala363Thr	rs200364297	missense variant	-	NC_000015.10:g.90754938G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala363Val	RCV000685874	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760147C>T	ClinVar
BLM	P54132	p.Ala363Thr	RCV000549947	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90754938G>A	ClinVar
BLM	P54132	p.Arg364Lys	rs1374291628	missense variant	-	NC_000015.10:g.90760150G>A	TOPMed
BLM	P54132	p.Arg364Ter	RCV000779836	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760149A>T	ClinVar
BLM	P54132	p.Arg364Lys	RCV000687553	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760150G>A	ClinVar
BLM	P54132	p.Ile366Leu	rs552913880	missense variant	-	NC_000015.10:g.90760155A>C	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile366Val	rs552913880	missense variant	-	NC_000015.10:g.90760155A>G	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile366Thr	rs571152089	missense variant	-	NC_000015.10:g.90760156T>C	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile366Thr	RCV000477302	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760156T>C	ClinVar
BLM	P54132	p.Ile366Thr	RCV000115278	missense variant	-	NC_000015.10:g.90760156T>C	ClinVar
BLM	P54132	p.Ile366Leu	RCV000628658	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760155A>C	ClinVar
BLM	P54132	p.Ile366Thr	RCV000574582	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760156T>C	ClinVar
BLM	P54132	p.Ser367Asn	rs772176483	missense variant	-	NC_000015.10:g.90760159G>A	ExAC,gnomAD
BLM	P54132	p.Ser367Asn	RCV000571670	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760159G>A	ClinVar
BLM	P54132	p.Gln369Glu	rs1049658021	missense variant	-	NC_000015.10:g.90760164C>G	TOPMed
BLM	P54132	p.Gln370Pro	rs773198283	missense variant	-	NC_000015.10:g.90760168A>C	ExAC,gnomAD
BLM	P54132	p.Leu372Val	rs1480729955	missense variant	-	NC_000015.10:g.90760173C>G	gnomAD
BLM	P54132	p.Ile373Asn	rs1060500630	missense variant	-	NC_000015.10:g.90760177T>A	-
BLM	P54132	p.Ile373Asn	RCV000464575	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760177T>A	ClinVar
BLM	P54132	p.Ile373Val	rs766212032	missense variant	-	NC_000015.10:g.90760176A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile373Ter	RCV000664785	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760173del	ClinVar
BLM	P54132	p.His374Arg	RCV000628642	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760180A>G	ClinVar
BLM	P54132	p.His374Arg	rs776225502	missense variant	-	NC_000015.10:g.90760180A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu377Ter	RCV000528231	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760188del	ClinVar
BLM	P54132	p.Glu377Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760188G>C	NCI-TCGA
BLM	P54132	p.His378Tyr	RCV000548596	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760191_90760193delinsTAT	ClinVar
BLM	P54132	p.His378Tyr	rs752240971	missense variant	-	NC_000015.10:g.90760191C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.His378Tyr	rs1555419713	missense variant	-	NC_000015.10:g.90760191_90760193delinsTAT	-
BLM	P54132	p.Ile379Ser	rs1408233877	missense variant	-	NC_000015.10:g.90760195T>G	TOPMed
BLM	P54132	p.Ile379Met	rs1178783782	missense variant	-	NC_000015.10:g.90760196C>G	TOPMed
BLM	P54132	p.Ile383Thr	rs556577644	missense variant	-	NC_000015.10:g.90760207T>C	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp384Ter	RCV000668935	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760210del	ClinVar
BLM	P54132	p.Thr385Asn	rs202009716	missense variant	-	NC_000015.10:g.90760213C>A	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Ile386Val	rs757636363	missense variant	-	NC_000015.10:g.90760215A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro387Leu	rs781643015	missense variant	-	NC_000015.10:g.90760219C>T	ExAC,gnomAD
BLM	P54132	p.Asp389Gly	rs1555419732	missense variant	-	NC_000015.10:g.90760225A>G	-
BLM	P54132	p.Asp389Gly	RCV000628612	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760225A>G	ClinVar
BLM	P54132	p.Asp389His	rs746170218	missense variant	-	NC_000015.10:g.90760224G>C	ExAC,gnomAD
BLM	P54132	p.Glu399Lys	rs538728271	missense variant	-	NC_000015.10:g.90760254G>A	ExAC,gnomAD
BLM	P54132	p.Glu399Lys	RCV000628690	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760254G>A	ClinVar
BLM	P54132	p.Glu399Lys	RCV000565340	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760254G>A	ClinVar
BLM	P54132	p.Leu401Phe	RCV000539301	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760260C>T	ClinVar
BLM	P54132	p.Leu401Phe	rs151150267	missense variant	-	NC_000015.10:g.90760260C>T	ESP,ExAC,gnomAD
BLM	P54132	p.Gln402Leu	rs1317810142	missense variant	-	NC_000015.10:g.90760264A>T	TOPMed
BLM	P54132	p.Gln403His	rs1555419741	missense variant	-	NC_000015.10:g.90760268G>C	-
BLM	P54132	p.Gln403Arg	rs375342874	missense variant	-	NC_000015.10:g.90760267A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln403Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.90760266C>T	NCI-TCGA
BLM	P54132	p.Gln403His	RCV000562284	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760268G>C	ClinVar
BLM	P54132	p.Arg404Trp	rs770721765	missense variant	-	NC_000015.10:g.90760269C>T	ExAC,gnomAD
BLM	P54132	p.Arg404Gln	rs776516663	missense variant	-	NC_000015.10:g.90760270G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg404Gln	RCV000563361	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760270G>A	ClinVar
BLM	P54132	p.Arg404Ter	RCV000670863	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760269del	ClinVar
BLM	P54132	p.Arg404Trp	RCV000554002	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760269C>T	ClinVar
BLM	P54132	p.Arg404Gln	RCV000532308	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760270G>A	ClinVar
BLM	P54132	p.Asn405Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760273A>G	NCI-TCGA
BLM	P54132	p.Ile406Val	rs769498398	missense variant	-	NC_000015.10:g.90760275A>G	ExAC,gnomAD
BLM	P54132	p.Arg407Ile	rs1350192744	missense variant	-	NC_000015.10:g.90760279G>T	TOPMed
BLM	P54132	p.Arg408Lys	RCV000628688	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760596G>A	ClinVar
BLM	P54132	p.Arg408Lys	rs1338335954	missense variant	-	NC_000015.10:g.90760596G>A	gnomAD
BLM	P54132	p.Leu410Phe	rs200688933	missense variant	-	NC_000015.10:g.90760601C>T	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Leu410Val	rs200688933	missense variant	-	NC_000015.10:g.90760601C>G	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Leu411Val	RCV000702571	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760604C>G	ClinVar
BLM	P54132	p.Thr412Met	RCV000462668	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760608C>T	ClinVar
BLM	P54132	p.Thr412Met	rs775209685	missense variant	-	NC_000015.10:g.90760608C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu413Val	rs1215111361	missense variant	-	NC_000015.10:g.90760611A>T	gnomAD
BLM	P54132	p.Glu413Lys	RCV000530944	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760610G>A	ClinVar
BLM	P54132	p.Glu413Lys	rs887921909	missense variant	-	NC_000015.10:g.90760610G>A	TOPMed,gnomAD
BLM	P54132	p.Asp420Gly	rs773952896	missense variant	-	NC_000015.10:g.90760632A>G	ExAC,gnomAD
BLM	P54132	p.Asp420Val	rs773952896	missense variant	-	NC_000015.10:g.90760632A>T	ExAC,gnomAD
BLM	P54132	p.Ala421Thr	rs587779879	missense variant	-	NC_000015.10:g.90760634G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala421Ser	rs587779879	missense variant	-	NC_000015.10:g.90760634G>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala421Thr	RCV000115280	missense variant	-	NC_000015.10:g.90760634G>A	ClinVar
BLM	P54132	p.Gly425Val	rs1244225539	missense variant	-	NC_000015.10:g.90760647G>T	gnomAD
BLM	P54132	p.Ser426Leu	rs768127491	missense variant	-	NC_000015.10:g.90760650C>T	ExAC,gnomAD
BLM	P54132	p.Leu427Trp	rs750960910	missense variant	-	NC_000015.10:g.90760653T>G	ExAC,gnomAD
BLM	P54132	p.Trp428Ter	RCV000410691	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760657G>A	ClinVar
BLM	P54132	p.Trp428Ter	rs1057516964	stop gained	-	NC_000015.10:g.90760657G>A	-
BLM	P54132	p.Arg429Lys	rs761195071	missense variant	-	NC_000015.10:g.90760659G>A	ExAC
BLM	P54132	p.Tyr430Ter	rs749512704	stop gained	-	NC_000015.10:g.90760662_90760663insAT	ExAC,gnomAD
BLM	P54132	p.Tyr430His	rs1314473930	missense variant	-	NC_000015.10:g.90760661T>C	gnomAD
BLM	P54132	p.ArgPro431ArgProProTerGlyUnk	rs757530461	stop gained	-	NC_000015.10:g.90760669_90760670insCCATAGGGCCT	ExAC,gnomAD
BLM	P54132	p.Arg431Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760665G>A	NCI-TCGA
BLM	P54132	p.Pro432Ter	RCV000560371	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760668dup	ClinVar
BLM	P54132	p.Pro432Ser	rs371682827	missense variant	-	NC_000015.10:g.90760667C>T	ESP,TOPMed
BLM	P54132	p.Asp433His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760670G>C	NCI-TCGA
BLM	P54132	p.Ser434Ter	RCV000671593	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760674C>G	ClinVar
BLM	P54132	p.Ser434Ter	rs754203833	stop gained	-	NC_000015.10:g.90760674C>G	ExAC
BLM	P54132	p.Leu435Pro	rs1315734510	missense variant	-	NC_000015.10:g.90760677T>C	gnomAD
BLM	P54132	p.Leu435Phe	rs755256088	missense variant	-	NC_000015.10:g.90760676C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly437Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760683G>T	NCI-TCGA
BLM	P54132	p.Pro438Ser	rs752884341	missense variant	-	NC_000015.10:g.90760685C>T	ExAC,gnomAD
BLM	P54132	p.Pro438His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760686C>A	NCI-TCGA
BLM	P54132	p.Met439Val	rs201231857	missense variant	-	NC_000015.10:g.90760688A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Met439Ile	rs1450277471	missense variant	-	NC_000015.10:g.90760690G>T	TOPMed
BLM	P54132	p.Met439Val	RCV000574443	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760688A>G	ClinVar
BLM	P54132	p.Met439Ter	RCV000670355	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760689del	ClinVar
BLM	P54132	p.Glu440Lys	rs777845306	missense variant	-	NC_000015.10:g.90760691G>A	ExAC,gnomAD
BLM	P54132	p.Glu440Gly	RCV000686664	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760692A>G	ClinVar
BLM	P54132	p.Cys444Phe	RCV000628632	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760704G>T	ClinVar
BLM	P54132	p.Cys444Ser	rs745820610	missense variant	-	NC_000015.10:g.90760703T>A	ExAC,gnomAD
BLM	P54132	p.Cys444Phe	rs1555419834	missense variant	-	NC_000015.10:g.90760704G>T	-
BLM	P54132	p.Thr446Ser	RCV000690956	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760709A>T	ClinVar
BLM	P54132	p.Thr446Lys	rs1447973805	missense variant	-	NC_000015.10:g.90760710C>A	TOPMed,gnomAD
BLM	P54132	p.Gly447Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760712G>A	NCI-TCGA
BLM	P54132	p.Asn448Asp	rs755998510	missense variant	-	NC_000015.10:g.90760715A>G	ExAC,gnomAD
BLM	P54132	p.Asn448Thr	rs1196726372	missense variant	-	NC_000015.10:g.90760716A>C	TOPMed
BLM	P54132	p.Ser449Cys	RCV000628620	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760719C>G	ClinVar
BLM	P54132	p.Ser449Cys	rs967698170	missense variant	-	NC_000015.10:g.90760719C>G	-
BLM	P54132	p.Ser449Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760719C>A	NCI-TCGA
BLM	P54132	p.Met450Val	rs200385935	missense variant	-	NC_000015.10:g.90760721A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Met450Val	RCV000115282	missense variant	-	NC_000015.10:g.90760721A>G	ClinVar
BLM	P54132	p.Lys451Thr	rs749051692	missense variant	-	NC_000015.10:g.90760725A>C	ExAC,gnomAD
BLM	P54132	p.Glu452Lys	rs768403689	missense variant	-	NC_000015.10:g.90760727G>A	ExAC
BLM	P54132	p.Leu453Ter	RCV000544365	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760731T>G	ClinVar
BLM	P54132	p.Leu453Ter	rs730881428	stop gained	-	NC_000015.10:g.90760731T>G	-
BLM	P54132	p.Asn454Lys	rs1156488243	missense variant	-	NC_000015.10:g.90760735T>G	gnomAD
BLM	P54132	p.His457Gln	rs1225553532	missense variant	-	NC_000015.10:g.90760744C>A	TOPMed
BLM	P54132	p.Leu458Phe	rs1386680498	missense variant	-	NC_000015.10:g.90760745C>T	gnomAD
BLM	P54132	p.Pro459Leu	rs1302320494	missense variant	-	NC_000015.10:g.90760749C>T	gnomAD
BLM	P54132	p.Asn461Asp	rs1216457741	missense variant	-	NC_000015.10:g.90760754A>G	gnomAD
BLM	P54132	p.Ser462Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760758C>A	NCI-TCGA
BLM	P54132	p.Ser462Ter	RCV000159830	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760758del	ClinVar
BLM	P54132	p.Val463Ile	rs1028963834	missense variant	-	NC_000015.10:g.90760760G>A	TOPMed
BLM	P54132	p.Val463Gly	rs1555419857	missense variant	-	NC_000015.10:g.90760761T>G	-
BLM	P54132	p.Val463Gly	RCV000628638	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760761T>G	ClinVar
BLM	P54132	p.Ser464Phe	rs1303724070	missense variant	-	NC_000015.10:g.90760764C>T	TOPMed
BLM	P54132	p.Pro465Leu	rs561545349	missense variant	-	NC_000015.10:g.90760767C>T	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Gly466Glu	RCV000687149	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760770G>A	ClinVar
BLM	P54132	p.Gly466Arg	rs747760482	missense variant	-	NC_000015.10:g.90760769G>A	ExAC,gnomAD
BLM	P54132	p.Asp467Ter	RCV000666095	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760772dup	ClinVar
BLM	P54132	p.Thr471Ile	rs1281556342	missense variant	-	NC_000015.10:g.90760785C>T	gnomAD
BLM	P54132	p.Thr472Asn	rs368967327	missense variant	-	NC_000015.10:g.90760788C>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr473Ile	rs761284618	missense variant	-	NC_000015.10:g.90760791C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr477Ter	RCV000668814	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760802_90760805del	ClinVar
BLM	P54132	p.Thr477Ile	RCV000699198	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760803C>T	ClinVar
BLM	P54132	p.Gly478Arg	RCV000628678	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760805G>C	ClinVar
BLM	P54132	p.Gly478Ala	rs759810567	missense variant	-	NC_000015.10:g.90760806G>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly478Arg	rs1490929990	missense variant	-	NC_000015.10:g.90760805G>C	TOPMed,gnomAD
BLM	P54132	p.Gly478Arg	rs1490929990	missense variant	-	NC_000015.10:g.90760805G>A	TOPMed,gnomAD
BLM	P54132	p.Gly478Ala	RCV000537347	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760806G>C	ClinVar
BLM	P54132	p.Gly478Ala	RCV000566609	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760806G>C	ClinVar
BLM	P54132	p.Phe479Leu	RCV000689409	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760810C>G	ClinVar
BLM	P54132	p.Phe479Leu	rs1250395176	missense variant	-	NC_000015.10:g.90760808T>C	gnomAD
BLM	P54132	p.Phe479Cys	rs1418071613	missense variant	-	NC_000015.10:g.90760809T>G	TOPMed,gnomAD
BLM	P54132	p.Phe479Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760810C>A	NCI-TCGA
BLM	P54132	p.Phe479Cys	RCV000542996	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760809T>G	ClinVar
BLM	P54132	p.Ser480Pro	RCV000567157	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760811T>C	ClinVar
BLM	P54132	p.Ser480Pro	rs1555419877	missense variant	-	NC_000015.10:g.90760811T>C	-
BLM	P54132	p.Thr482Ala	rs1179030077	missense variant	-	NC_000015.10:g.90760817A>G	gnomAD
BLM	P54132	p.Lys484Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760825G>T	NCI-TCGA
BLM	P54132	p.Phe487Leu	rs765565919	missense variant	-	NC_000015.10:g.90760832T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Phe487Val	rs765565919	missense variant	-	NC_000015.10:g.90760832T>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Phe487Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760833T>G	NCI-TCGA
BLM	P54132	p.Glu488Ter	RCV000700601	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90760835G>T	ClinVar
BLM	P54132	p.Glu488Lys	RCV000557690	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760835G>A	ClinVar
BLM	P54132	p.Glu488Lys	rs1477193473	missense variant	-	NC_000015.10:g.90760835G>A	TOPMed
BLM	P54132	p.Glu488Gln	COSM458932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90760835G>C	NCI-TCGA Cosmic
BLM	P54132	p.Arg489Gly	rs752869722	missense variant	-	NC_000015.10:g.90760838A>G	ExAC,gnomAD
BLM	P54132	p.Pro490Ser	RCV000706973	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760841C>T	ClinVar
BLM	P54132	p.Pro490Arg	RCV000232143	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760842C>G	ClinVar
BLM	P54132	p.Pro490Arg	rs878853553	missense variant	-	NC_000015.10:g.90760842C>G	-
BLM	P54132	p.Phe492Leu	RCV000628667	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760847T>C	ClinVar
BLM	P54132	p.Phe492Leu	rs764182382	missense variant	-	NC_000015.10:g.90760847T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn493Ser	COSM4057907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90760851A>G	NCI-TCGA Cosmic
BLM	P54132	p.Thr494Ile	rs751600686	missense variant	-	NC_000015.10:g.90760854C>T	ExAC,gnomAD
BLM	P54132	p.Thr494Asn	rs751600686	missense variant	-	NC_000015.10:g.90760854C>A	ExAC,gnomAD
BLM	P54132	p.Thr494Ile	RCV000535993	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760854C>T	ClinVar
BLM	P54132	p.Thr494Ter	RCV000409376	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760852_90760853del	ClinVar
BLM	P54132	p.Gln497Arg	rs368547042	missense variant	-	NC_000015.10:g.90760863A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln497Pro	rs368547042	missense variant	-	NC_000015.10:g.90760863A>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln497Pro	RCV000550747	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760863A>C	ClinVar
BLM	P54132	p.Lys498Arg	rs749164590	missense variant	-	NC_000015.10:g.90760866A>G	ExAC,gnomAD
BLM	P54132	p.Ser499Thr	rs371965329	missense variant	-	NC_000015.10:g.90760868T>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser499Phe	rs778700833	missense variant	-	NC_000015.10:g.90760869C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser499Phe	RCV000226684	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760869C>T	ClinVar
BLM	P54132	p.Ser499Thr	RCV000526747	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760868T>A	ClinVar
BLM	P54132	p.Phe500Ter	RCV000574589	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760873del	ClinVar
BLM	P54132	p.Val501Glu	rs1247170438	missense variant	-	NC_000015.10:g.90760875T>A	gnomAD
BLM	P54132	p.Ser502Thr	rs908599703	missense variant	-	NC_000015.10:g.90760878G>C	TOPMed
BLM	P54132	p.Ser502Thr	RCV000536857	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760878G>C	ClinVar
BLM	P54132	p.Ser502Asn	rs908599703	missense variant	-	NC_000015.10:g.90760878G>A	TOPMed
BLM	P54132	p.Ser502Arg	rs771703657	missense variant	-	NC_000015.10:g.90760877A>C	ExAC,gnomAD
BLM	P54132	p.Ser503Asn	rs1352036324	missense variant	-	NC_000015.10:g.90760881G>A	TOPMed
BLM	P54132	p.Trp505Cys	RCV000628626	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760888G>T	ClinVar
BLM	P54132	p.Trp505Ter	rs1286401716	stop gained	-	NC_000015.10:g.90760888G>A	TOPMed
BLM	P54132	p.Trp505Cys	rs1286401716	missense variant	-	NC_000015.10:g.90760888G>T	TOPMed
BLM	P54132	p.Trp505Arg	rs772877648	missense variant	-	NC_000015.10:g.90760886T>C	ExAC,gnomAD
BLM	P54132	p.Glu507Lys	RCV000574215	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760892G>A	ClinVar
BLM	P54132	p.Glu507Lys	rs192491153	missense variant	-	NC_000015.10:g.90760892G>A	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro509Thr	rs771610207	missense variant	-	NC_000015.10:g.90760898C>A	ExAC,gnomAD
BLM	P54132	p.Pro509Gln	rs1457782246	missense variant	-	NC_000015.10:g.90760899C>A	gnomAD
BLM	P54132	p.Arg510Lys	rs1182650678	missense variant	-	NC_000015.10:g.90760902G>A	gnomAD
BLM	P54132	p.Leu511Ile	rs1382968714	missense variant	-	NC_000015.10:g.90760904C>A	gnomAD
BLM	P54132	p.Leu511Gln	rs1446287900	missense variant	-	NC_000015.10:g.90760905T>A	gnomAD
BLM	P54132	p.Gly512Arg	rs1165197763	missense variant	-	NC_000015.10:g.90760907G>A	gnomAD
BLM	P54132	p.Lys513Ter	rs1412833703	stop gained	-	NC_000015.10:g.90760910A>T	TOPMed
BLM	P54132	p.Lys514Arg	rs550463714	missense variant	-	NC_000015.10:g.90760914A>G	ExAC,gnomAD
BLM	P54132	p.Asn515MetPheSerTerUnkUnk	rs772495493	frameshift	-	NC_000015.10:g.90760909A>-	NCI-TCGA,NCI-TCGA Cosmic
BLM	P54132	p.Asn515Ter	RCV000415444	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760917del	ClinVar
BLM	P54132	p.Asn515Thr	rs765536045	missense variant	-	NC_000015.10:g.90760917A>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn515Ter	RCV000034890	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760917dup	ClinVar
BLM	P54132	p.Glu516Gly	rs1159306009	missense variant	-	NC_000015.10:g.90760920A>G	TOPMed
BLM	P54132	p.Ser517Ter	RCV000668337	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90760922dup	ClinVar
BLM	P54132	p.Ser518Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90760926C>G	NCI-TCGA
BLM	P54132	p.Tyr519Cys	RCV000708665	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90760929A>G	ClinVar
BLM	P54132	p.Phe520Ser	rs1410283592	missense variant	-	NC_000015.10:g.90760932T>C	-
BLM	P54132	p.Phe520Ser	RCV000686503	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760932T>C	ClinVar
BLM	P54132	p.Pro521Leu	rs1473790026	missense variant	-	NC_000015.10:g.90760935C>T	TOPMed
BLM	P54132	p.Pro521Ser	rs1451973495	missense variant	-	NC_000015.10:g.90760934C>T	gnomAD
BLM	P54132	p.Asn523Ile	RCV000703283	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760941A>T	ClinVar
BLM	P54132	p.Asn523Ile	rs1385248707	missense variant	-	NC_000015.10:g.90760941A>T	TOPMed,gnomAD
BLM	P54132	p.Leu525Arg	rs764271899	missense variant	-	NC_000015.10:g.90760947T>G	ExAC,gnomAD
BLM	P54132	p.Leu525Pro	rs764271899	missense variant	-	NC_000015.10:g.90760947T>C	ExAC,gnomAD
BLM	P54132	p.Thr526Ala	rs757315907	missense variant	-	NC_000015.10:g.90760949A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys531Asn	rs1239709333	missense variant	-	NC_000015.10:g.90760966A>T	TOPMed
BLM	P54132	p.Asp532Asn	rs753723424	missense variant	-	NC_000015.10:g.90760967G>A	ExAC,gnomAD
BLM	P54132	p.Asn534Ser	RCV000465434	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760974A>G	ClinVar
BLM	P54132	p.Asn534Ser	rs35224686	missense variant	-	NC_000015.10:g.90760974A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys535Gln	COSM471245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90760976A>C	NCI-TCGA Cosmic
BLM	P54132	p.Thr537Asn	RCV000540055	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760983C>A	ClinVar
BLM	P54132	p.Thr537Asn	rs1555419928	missense variant	-	NC_000015.10:g.90760983C>A	-
BLM	P54132	p.Ala538Pro	rs1318049766	missense variant	-	NC_000015.10:g.90760985G>C	gnomAD
BLM	P54132	p.Ala538Val	RCV000472437	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760986C>T	ClinVar
BLM	P54132	p.Ala538Asp	rs778593808	missense variant	-	NC_000015.10:g.90760986C>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala538Val	rs778593808	missense variant	-	NC_000015.10:g.90760986C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile540Val	rs1060500641	missense variant	-	NC_000015.10:g.90760991A>G	-
BLM	P54132	p.Ile540Val	RCV000463091	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760991A>G	ClinVar
BLM	P54132	p.Asn541Ser	rs1240946873	missense variant	-	NC_000015.10:g.90760995A>G	gnomAD
BLM	P54132	p.Asp542Tyr	rs1555419932	missense variant	-	NC_000015.10:g.90760997G>T	-
BLM	P54132	p.Asp542Tyr	RCV000674920	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90760997G>T	ClinVar
BLM	P54132	p.Glu544Gly	RCV000693981	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761004A>G	ClinVar
BLM	P54132	p.Glu544Lys	rs752494229	missense variant	-	NC_000015.10:g.90761003G>A	ExAC,gnomAD
BLM	P54132	p.Arg545Ser	rs1260807193	missense variant	-	NC_000015.10:g.90761008A>C	gnomAD
BLM	P54132	p.Glu546Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90761009G>C	NCI-TCGA
BLM	P54132	p.Thr547Ile	rs758161226	missense variant	-	NC_000015.10:g.90761013C>T	ExAC,gnomAD
BLM	P54132	p.Thr547Ile	RCV000472965	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761013C>T	ClinVar
BLM	P54132	p.Thr547Ala	rs1426499355	missense variant	-	NC_000015.10:g.90761012A>G	gnomAD
BLM	P54132	p.Gln548Ter	RCV000144577	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90761015C>T	ClinVar
BLM	P54132	p.Gln548Ter	rs200389141	stop gained	-	NC_000015.10:g.90761015C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr551Cys	rs746571244	missense variant	-	NC_000015.10:g.90761025A>G	ExAC,gnomAD
BLM	P54132	p.Tyr551Cys	RCV000462089	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761025A>G	ClinVar
BLM	P54132	p.Asp554Val	rs1266070433	missense variant	-	NC_000015.10:g.90761034A>T	TOPMed
BLM	P54132	p.Ile558Thr	rs1469407831	missense variant	-	NC_000015.10:g.90761046T>C	gnomAD
BLM	P54132	p.Asp559Glu	rs780794194	missense variant	-	NC_000015.10:g.90761050T>A	ExAC,gnomAD
BLM	P54132	p.Asp560His	rs746386524	missense variant	-	NC_000015.10:g.90761051G>C	ExAC,gnomAD
BLM	P54132	p.Asp563Val	rs1288457938	missense variant	-	NC_000015.10:g.90761061A>T	gnomAD
BLM	P54132	p.Asp563Val	RCV000700932	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761061A>T	ClinVar
BLM	P54132	p.Asp564Gly	rs1555419944	missense variant	-	NC_000015.10:g.90761064A>G	-
BLM	P54132	p.Asp564Gly	RCV000628627	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761064A>G	ClinVar
BLM	P54132	p.Asp565Asn	COSM434542	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90761066G>A	NCI-TCGA Cosmic
BLM	P54132	p.Trp567Ter	rs1356090839	stop gained	-	NC_000015.10:g.90761074G>A	TOPMed
BLM	P54132	p.Glu568Gln	rs1360373872	missense variant	-	NC_000015.10:g.90761075G>C	TOPMed,gnomAD
BLM	P54132	p.Ile570Val	rs775758928	missense variant	-	NC_000015.10:g.90761081A>G	ExAC,gnomAD
BLM	P54132	p.Ile570Leu	rs775758928	missense variant	-	NC_000015.10:g.90761081A>T	ExAC,gnomAD
BLM	P54132	p.Met571Thr	RCV000120248	missense variant	-	NC_000015.10:g.90761085T>C	ClinVar
BLM	P54132	p.His572Arg	rs763355238	missense variant	-	NC_000015.10:g.90761088A>G	ExAC,gnomAD
BLM	P54132	p.His572Pro	rs763355238	missense variant	-	NC_000015.10:g.90761088A>C	ExAC,gnomAD
BLM	P54132	p.His572Tyr	rs1445931282	missense variant	-	NC_000015.10:g.90761087C>T	TOPMed
BLM	P54132	p.LeuAla574PheLys	rs587778107	missense variant	-	NC_000015.10:g.90761095_90761097delinsTAA	-
BLM	P54132	p.Leu574PheLys	RCV000120245	missense variant	-	NC_000015.10:g.90761095_90761097delinsTAA	ClinVar
BLM	P54132	p.Ala575Ter	RCV000411275	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761093_90761108del	ClinVar
BLM	P54132	p.Ala575Val	rs774551420	missense variant	-	NC_000015.10:g.90761097C>T	ExAC,gnomAD
BLM	P54132	p.Ala576Ter	RCV000409598	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761095_90761098delinsGGC	ClinVar
BLM	P54132	p.Ser577Arg	rs761955701	missense variant	-	NC_000015.10:g.90761102A>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser577Gly	rs761955701	missense variant	-	NC_000015.10:g.90761102A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser577Asn	RCV000705217	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761103G>A	ClinVar
BLM	P54132	p.Thr581Ter	RCV000412340	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761113del	ClinVar
BLM	P54132	p.Thr581Ala	rs587778108	missense variant	-	NC_000015.10:g.90761114A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr581Ala	RCV000689681	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761114A>G	ClinVar
BLM	P54132	p.Ala583Ser	rs1043484811	missense variant	-	NC_000015.10:g.90761120G>T	TOPMed
BLM	P54132	p.Tyr584Cys	rs765187809	missense variant	-	NC_000015.10:g.90761124A>G	ExAC,gnomAD
BLM	P54132	p.Gln585Ter	RCV000671163	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761125del	ClinVar
BLM	P54132	p.Gln585Arg	rs752479366	missense variant	-	NC_000015.10:g.90761127A>G	ExAC,gnomAD
BLM	P54132	p.Lys588Ter	RCV000410100	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761137_90761150del	ClinVar
BLM	P54132	p.Glu589Ter	COSM434543	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.90761138G>T	NCI-TCGA Cosmic
BLM	P54132	p.Gly590Ala	rs758250947	missense variant	-	NC_000015.10:g.90761142G>C	ExAC,gnomAD
BLM	P54132	p.Arg591Gly	rs777647725	missense variant	-	NC_000015.10:g.90761144C>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg591Trp	rs777647725	missense variant	-	NC_000015.10:g.90761144C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg591Gln	rs28385012	missense variant	-	NC_000015.10:g.90761145G>A	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro592Ser	rs1197143678	missense variant	-	NC_000015.10:g.90761147C>T	gnomAD
BLM	P54132	p.Ser595Leu	rs138943954	missense variant	-	NC_000015.10:g.90761157C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser595Ter	rs138943954	stop gained	-	NC_000015.10:g.90761157C>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg599Ter	RCV000411246	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761168del	ClinVar
BLM	P54132	p.Leu600Phe	rs1466022684	missense variant	-	NC_000015.10:g.90761171C>T	TOPMed
BLM	P54132	p.Ala603Gly	RCV000705396	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761181C>G	ClinVar
BLM	P54132	p.Asp606Ter	RCV000668805	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90761190_90761193del	ClinVar
BLM	P54132	p.Asp606Glu	rs1343649830	missense variant	-	NC_000015.10:g.90761191C>G	TOPMed,gnomAD
BLM	P54132	p.Cys607Trp	rs1207886252	missense variant	-	NC_000015.10:g.90761194T>G	TOPMed
BLM	P54132	p.Pro609Thr	rs770255643	missense variant	-	NC_000015.10:g.90761198C>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro609Thr	RCV000553465	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761198C>A	ClinVar
BLM	P54132	p.Thr613Ile	rs550417200	missense variant	-	NC_000015.10:g.90761211C>T	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala614Val	rs1285727934	missense variant	-	NC_000015.10:g.90761214C>T	TOPMed,gnomAD
BLM	P54132	p.Ile617Leu	rs1219301379	missense variant	-	NC_000015.10:g.90761222A>T	gnomAD
BLM	P54132	p.Ile617TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90761221_90761222insTATCAATATC	NCI-TCGA
BLM	P54132	p.Ile617Thr	rs868510206	missense variant	-	NC_000015.10:g.90761223T>C	-
BLM	P54132	p.Ile617Thr	RCV000628628	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761223T>C	ClinVar
BLM	P54132	p.Asn618Lys	rs371519654	missense variant	-	NC_000015.10:g.90761227C>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Phe619Leu	rs1218260888	missense variant	-	NC_000015.10:g.90761230C>G	gnomAD
BLM	P54132	p.Phe619Cys	rs1314782111	missense variant	-	NC_000015.10:g.90761229T>G	gnomAD
BLM	P54132	p.Glu621Asp	rs374965438	missense variant	-	NC_000015.10:g.90761236G>C	ESP,gnomAD
BLM	P54132	p.Glu621Asp	RCV000628689	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761236G>C	ClinVar
BLM	P54132	p.Ser622Pro	rs1033751385	missense variant	-	NC_000015.10:g.90761237T>C	TOPMed,gnomAD
BLM	P54132	p.Ile623Thr	RCV000703064	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761241T>C	ClinVar
BLM	P54132	p.Gln624Ter	rs774639456	stop gained	-	NC_000015.10:g.90761243C>T	ExAC,gnomAD
BLM	P54132	p.Asn625Asp	rs1248352364	missense variant	-	NC_000015.10:g.90761246A>G	gnomAD
BLM	P54132	p.Tyr626Ter	rs1176677177	stop gained	-	NC_000015.10:g.90761251T>G	TOPMed,gnomAD
BLM	P54132	p.Tyr626Phe	rs374569385	missense variant	-	NC_000015.10:g.90761250A>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr626Phe	RCV000628657	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90761250A>T	ClinVar
BLM	P54132	p.Asp628Gly	rs773466486	missense variant	-	NC_000015.10:g.90762966A>G	ExAC,gnomAD
BLM	P54132	p.Ser630Pro	RCV000709360	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90762971T>C	ClinVar
BLM	P54132	p.Gln632Lys	rs746857727	missense variant	-	NC_000015.10:g.90762977C>A	-
BLM	P54132	p.Gln632Lys	RCV000628624	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90762977C>A	ClinVar
BLM	P54132	p.Asn633His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90762980A>C	NCI-TCGA
BLM	P54132	p.Arg637Ile	COSM3817062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90762993G>T	NCI-TCGA Cosmic
BLM	P54132	p.Asn638Ser	rs587778110	missense variant	-	NC_000015.10:g.90762996A>G	TOPMed,gnomAD
BLM	P54132	p.Asn638Thr	rs587778110	missense variant	-	NC_000015.10:g.90762996A>C	TOPMed,gnomAD
BLM	P54132	p.Asn638Thr	RCV000628673	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90762996A>C	ClinVar
BLM	P54132	p.Asn638Ser	RCV000470527	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90762996A>G	ClinVar
BLM	P54132	p.Glu642Lys	rs201458487	missense variant	-	NC_000015.10:g.90763007G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu642Lys	RCV000530372	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763007G>A	ClinVar
BLM	P54132	p.Arg643His	rs12720097	missense variant	-	NC_000015.10:g.90763011G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg643Cys	rs373090621	missense variant	-	NC_000015.10:g.90763010C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg643His	RCV000211548	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763011G>A	ClinVar
BLM	P54132	p.Arg643Cys	RCV000459068	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763010C>T	ClinVar
BLM	P54132	p.Phe644Tyr	rs371023654	missense variant	-	NC_000015.10:g.90763014T>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln645His	rs1270762599	missense variant	-	NC_000015.10:g.90763018A>T	gnomAD
BLM	P54132	p.Gln645Leu	rs377563699	missense variant	-	NC_000015.10:g.90763017A>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln645Ter	rs373525781	stop gained	-	NC_000015.10:g.90763016C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln645Arg	rs377563699	missense variant	-	NC_000015.10:g.90763017A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln645Ter	RCV000545144	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90763016C>T	ClinVar
BLM	P54132	p.Gln645Arg	RCV000463716	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763017A>G	ClinVar
BLM	P54132	p.Gln645Arg	RCV000569839	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763017A>G	ClinVar
BLM	P54132	p.Gln645Ter	RCV000576060	nonsense	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763016C>T	ClinVar
BLM	P54132	p.Ser646Gly	rs370293537	missense variant	-	NC_000015.10:g.90763019A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser646Gly	RCV000468403	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763019A>G	ClinVar
BLM	P54132	p.Ser646Gly	RCV000561975	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763019A>G	ClinVar
BLM	P54132	p.Leu647Pro	rs1555420162	missense variant	-	NC_000015.10:g.90763023T>C	-
BLM	P54132	p.Leu647Pro	RCV000628622	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763023T>C	ClinVar
BLM	P54132	p.Leu647Ile	COSM279174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90763022C>A	NCI-TCGA Cosmic
BLM	P54132	p.Ser648Cys	rs753303865	missense variant	-	NC_000015.10:g.90763025A>T	ExAC,gnomAD
BLM	P54132	p.His651Tyr	rs1460158045	missense variant	-	NC_000015.10:g.90763034C>T	gnomAD
BLM	P54132	p.Thr652Ala	rs779368359	missense variant	-	NC_000015.10:g.90763037A>G	ExAC,gnomAD
BLM	P54132	p.Thr652Arg	rs1475280501	missense variant	-	NC_000015.10:g.90763038C>G	gnomAD
BLM	P54132	p.Lys653Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90763042G>T	NCI-TCGA
BLM	P54132	p.Lys653Met	COSM1301577	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90763041A>T	NCI-TCGA Cosmic
BLM	P54132	p.Met655Thr	rs748567176	missense variant	-	NC_000015.10:g.90763047T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Met655Thr	RCV000573356	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763047T>C	ClinVar
BLM	P54132	p.Met655Thr	RCV000628613	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763047T>C	ClinVar
BLM	P54132	p.Lys657Glu	rs758782238	missense variant	-	NC_000015.10:g.90763052A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys657Ter	RCV000586500	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90763051dup	ClinVar
BLM	P54132	p.Lys657Glu	RCV000561947	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90763052A>G	ClinVar
BLM	P54132	p.Ile658Thr	rs187379039	missense variant	-	NC_000015.10:g.90763056T>C	1000Genomes,ExAC
BLM	P54132	p.Ile658Val	RCV000709361	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763055A>G	ClinVar
BLM	P54132	p.His660Tyr	rs139688226	missense variant	-	NC_000015.10:g.90763061C>T	gnomAD
BLM	P54132	p.His660Tyr	RCV000667667	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763061C>T	ClinVar
BLM	P54132	p.Lys662Ter	RCV000668966	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90763068_90763069del	ClinVar
BLM	P54132	p.Gln672Arg	RCV000169338	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763098A>G	ClinVar
BLM	P54132	p.Gln672Arg	rs747281324	missense variant	-	NC_000015.10:g.90763098A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu674Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90763103G>C	NCI-TCGA
BLM	P54132	p.Ile676Val	rs776893468	missense variant	-	NC_000015.10:g.90763109A>G	ExAC,gnomAD
BLM	P54132	p.Asn677Ser	rs745922014	missense variant	-	NC_000015.10:g.90763113A>G	ExAC,gnomAD
BLM	P54132	p.Leu681Phe	rs768774375	missense variant	-	NC_000015.10:g.90763124C>T	ExAC,gnomAD
BLM	P54132	p.Gly682Asp	RCV000687150	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763128G>A	ClinVar
BLM	P54132	p.Gly682Asp	rs1342307269	missense variant	-	NC_000015.10:g.90763128G>A	TOPMed,gnomAD
BLM	P54132	p.Asp684Ala	rs1262628899	missense variant	-	NC_000015.10:g.90763134A>C	gnomAD
BLM	P54132	p.Asp684Ala	RCV000692722	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763134A>C	ClinVar
BLM	P54132	p.Asp684Tyr	COSM4057908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90763133G>T	NCI-TCGA Cosmic
BLM	P54132	p.Pro690Leu	rs761589072	missense variant	-	NC_000015.10:g.90763152C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro690Leu	RCV000535832	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90763152C>T	ClinVar
BLM	P54132	p.Gly692Val	rs1200392081	missense variant	-	NC_000015.10:g.90765296G>T	gnomAD
BLM	P54132	p.Gly693Asp	rs771864442	missense variant	-	NC_000015.10:g.90765299G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly693Ser	rs565078630	missense variant	-	NC_000015.10:g.90765298G>A	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Ser696Asn	rs773097986	missense variant	-	NC_000015.10:g.90765308G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.CysTyr698CysTerLeuUnk	rs753973474	stop gained	-	NC_000015.10:g.90765314_90765317dup	ExAC,gnomAD
BLM	P54132	p.Tyr699Cys	rs1420055119	missense variant	-	NC_000015.10:g.90765317A>G	gnomAD
BLM	P54132	p.Gln700Ter	rs367543028	stop gained	-	NC_000015.10:g.90765319C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln700Ter	RCV000034893	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90765319C>T	ClinVar
BLM	P54132	p.Gln700Ter	RCV000317685	nonsense	-	NC_000015.10:g.90765319C>T	ClinVar
BLM	P54132	p.Pro702Leu	rs770625327	missense variant	-	NC_000015.10:g.90765326C>T	ExAC,gnomAD
BLM	P54132	p.Ala703Pro	rs1246483498	missense variant	-	NC_000015.10:g.90765328G>C	TOPMed
BLM	P54132	p.Pro707Ser	RCV000563887	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90765340C>T	ClinVar
BLM	P54132	p.Pro707Ser	rs146077918	missense variant	-	NC_000015.10:g.90765340C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro707Ser	RCV000115288	missense variant	-	NC_000015.10:g.90765340C>T	ClinVar
BLM	P54132	p.Gly708Arg	rs1555420390	missense variant	-	NC_000015.10:g.90765343G>C	-
BLM	P54132	p.Gly708Glu	rs763559820	missense variant	-	NC_000015.10:g.90765344G>A	ExAC,gnomAD
BLM	P54132	p.Gly708Arg	RCV000628674	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765343G>C	ClinVar
BLM	P54132	p.Val709Phe	rs1311709933	missense variant	-	NC_000015.10:g.90765346G>T	gnomAD
BLM	P54132	p.Ser714Cys	rs764488484	missense variant	-	NC_000015.10:g.90765362C>G	ExAC,gnomAD
BLM	P54132	p.Pro715Ser	rs1060500636	missense variant	-	NC_000015.10:g.90765364C>T	-
BLM	P54132	p.Pro715Ser	RCV000457824	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765364C>T	ClinVar
BLM	P54132	p.Pro715Leu	COSM4477336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90765365C>T	NCI-TCGA Cosmic
BLM	P54132	p.Arg717Ser	rs1020963657	missense variant	-	NC_000015.10:g.90765372A>T	TOPMed
BLM	P54132	p.Arg717Thr	rs28406486	missense variant	-	NC_000015.10:g.90765371G>C	-
BLM	P54132	p.Arg717Thr	RCV000628666	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765371G>C	ClinVar
BLM	P54132	p.Leu719Phe	rs587779881	missense variant	-	NC_000015.10:g.90765376C>T	-
BLM	P54132	p.Leu719Phe	RCV000115289	missense variant	-	NC_000015.10:g.90765376C>T	ClinVar
BLM	P54132	p.Leu719Phe	RCV000549316	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765376C>T	ClinVar
BLM	P54132	p.Val721Ala	rs1436706002	missense variant	-	NC_000015.10:g.90765383T>C	gnomAD
BLM	P54132	p.Val721Ile	rs559554788	missense variant	-	NC_000015.10:g.90765382G>A	ExAC,gnomAD
BLM	P54132	p.Val721Ile	RCV000527567	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765382G>A	ClinVar
BLM	P54132	p.Val724Ala	rs750687788	missense variant	-	NC_000015.10:g.90765392T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr728Ser	RCV000706704	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90765404C>G	ClinVar
BLM	P54132	p.Thr728Ala	rs1440142847	missense variant	-	NC_000015.10:g.90765403A>G	TOPMed,gnomAD
BLM	P54132	p.Ser729Phe	rs866243946	missense variant	-	NC_000015.10:g.90765407C>T	TOPMed
BLM	P54132	p.Leu730CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90765409_90765410insG	NCI-TCGA
BLM	P54132	p.Asp731Asn	rs1459619445	missense variant	-	NC_000015.10:g.90765412G>A	TOPMed
BLM	P54132	p.Asp731Glu	rs756354696	missense variant	-	NC_000015.10:g.90765414T>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile732Phe	rs1555420546	missense variant	-	NC_000015.10:g.90766910A>T	-
BLM	P54132	p.Ile732Phe	RCV000628639	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90766910A>T	ClinVar
BLM	P54132	p.Pro733Ser	rs940792839	missense variant	-	NC_000015.10:g.90766913C>T	TOPMed,gnomAD
BLM	P54132	p.Ala734Ser	rs1301298294	missense variant	-	NC_000015.10:g.90766916G>T	gnomAD
BLM	P54132	p.Tyr736Ter	RCV000005787	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90766923_90766928delinsTAGATTC	ClinVar
BLM	P54132	p.Tyr736Ter	RCV000562115	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90766923_90766928delinsTAGATTC	ClinVar
BLM	P54132	p.Tyr736Ter	RCV000058933	frameshift	-	NC_000015.10:g.90766923_90766928delinsTAGATTC	ClinVar
BLM	P54132	p.Tyr736Ter	rs865899765	stop gained	-	NC_000015.10:g.90766924T>G	TOPMed
BLM	P54132	p.Tyr736Ter	RCV000336886	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90766922dup	ClinVar
BLM	P54132	p.Tyr736Cys	rs781008303	missense variant	-	NC_000015.10:g.90766923A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Leu737Met	rs901867383	missense variant	-	NC_000015.10:g.90766925C>A	TOPMed
BLM	P54132	p.Thr738Arg	rs1474290499	missense variant	-	NC_000015.10:g.90766929C>G	TOPMed
BLM	P54132	p.Thr738Arg	RCV000628670	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90766929C>G	ClinVar
BLM	P54132	p.Thr738Pro	rs1050741211	missense variant	-	NC_000015.10:g.90766928A>C	TOPMed
BLM	P54132	p.Gly739Ser	rs745642690	missense variant	-	NC_000015.10:g.90766931G>A	ExAC,gnomAD
BLM	P54132	p.Gly739Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90766932G>T	NCI-TCGA
BLM	P54132	p.Lys741Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90766939G>T	NCI-TCGA
BLM	P54132	p.Asp743Asn	COSM6078039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90766943G>A	NCI-TCGA Cosmic
BLM	P54132	p.Ala746Val	rs769498533	missense variant	-	NC_000015.10:g.90766953C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala746Val	RCV000461321	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90766953C>T	ClinVar
BLM	P54132	p.Thr747Ile	rs775004288	missense variant	-	NC_000015.10:g.90766956C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr747Lys	rs775004288	missense variant	-	NC_000015.10:g.90766956C>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr747Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90766955A>G	NCI-TCGA
BLM	P54132	p.Ile749Thr	rs748905577	missense variant	-	NC_000015.10:g.90766962T>C	ExAC,gnomAD
BLM	P54132	p.Ile749Val	rs1200806527	missense variant	-	NC_000015.10:g.90766961A>G	gnomAD
BLM	P54132	p.Ile749Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90766962T>A	NCI-TCGA
BLM	P54132	p.Leu751Ter	RCV000169119	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90766966_90766967insAAAT	ClinVar
BLM	P54132	p.Leu751Phe	rs1292127075	missense variant	-	NC_000015.10:g.90766967C>T	TOPMed
BLM	P54132	p.Gln752Lys	rs1424485988	missense variant	-	NC_000015.10:g.90766970C>A	gnomAD
BLM	P54132	p.Leu753Ter	RCV000709362	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90766974T>A	ClinVar
BLM	P54132	p.Leu753Ter	rs1400231534	stop gained	-	NC_000015.10:g.90766974T>A	TOPMed
BLM	P54132	p.Lys755Glu	rs142551229	missense variant	-	NC_000015.10:g.90766979A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys755Glu	RCV000120225	missense variant	-	NC_000015.10:g.90766979A>G	ClinVar
BLM	P54132	p.Lys756Arg	rs762439709	missense variant	-	NC_000015.10:g.90766983A>G	ExAC,gnomAD
BLM	P54132	p.Asp757ThrPheSerTerUnk	rs747341586	frameshift	-	NC_000015.10:g.90766978A>-	NCI-TCGA,NCI-TCGA Cosmic
BLM	P54132	p.Asp757Glu	rs773761682	missense variant	-	NC_000015.10:g.90766987C>G	ExAC,gnomAD
BLM	P54132	p.Asp757ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90766977_90766978insA	NCI-TCGA
BLM	P54132	p.Lys761Glu	rs1555420599	missense variant	-	NC_000015.10:g.90766997A>G	-
BLM	P54132	p.Lys761Glu	RCV000572987	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90766997A>G	ClinVar
BLM	P54132	p.Leu763Ile	rs896043726	missense variant	-	NC_000015.10:g.90767003C>A	gnomAD
BLM	P54132	p.Tyr764Ter	RCV000673943	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90767005_90767006AT[1]	ClinVar
BLM	P54132	p.Val765Ile	rs191789336	missense variant	-	NC_000015.10:g.90767009G>A	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Val765Ile	RCV000526205	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90767009G>A	ClinVar
BLM	P54132	p.Thr766Ser	rs1340640018	missense variant	-	NC_000015.10:g.90767013C>G	gnomAD
BLM	P54132	p.Glu768Lys	rs1060500640	missense variant	-	NC_000015.10:g.90767018G>A	-
BLM	P54132	p.Glu768Lys	RCV000477040	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90767018G>A	ClinVar
BLM	P54132	p.Lys769Asn	rs754007141	missense variant	-	NC_000015.10:g.90767023G>T	ExAC,gnomAD
BLM	P54132	p.Lys769Gln	rs1218122851	missense variant	-	NC_000015.10:g.90767021A>C	gnomAD
BLM	P54132	p.Ile770Val	rs777003918	missense variant	-	NC_000015.10:g.90769133A>G	ExAC,gnomAD
BLM	P54132	p.Cys771Tyr	rs1555420831	missense variant	-	NC_000015.10:g.90769137G>A	-
BLM	P54132	p.Cys771Tyr	RCV000628653	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769137G>A	ClinVar
BLM	P54132	p.Cys771Ter	COSM1375444	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.90769138T>A	NCI-TCGA Cosmic
BLM	P54132	p.Ala772Thr	rs1236574926	missense variant	-	NC_000015.10:g.90769139G>A	gnomAD
BLM	P54132	p.Ala772Val	rs765478171	missense variant	-	NC_000015.10:g.90769140C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn774Asp	rs1476764085	missense variant	-	NC_000015.10:g.90769145A>G	TOPMed
BLM	P54132	p.Asn774Ser	rs1245556905	missense variant	-	NC_000015.10:g.90769146A>G	TOPMed
BLM	P54132	p.Leu776Phe	rs1483824560	missense variant	-	NC_000015.10:g.90769151C>T	TOPMed
BLM	P54132	p.Ile777Val	rs764097842	missense variant	-	NC_000015.10:g.90769154A>G	ExAC,gnomAD
BLM	P54132	p.Ser778Cys	rs139610577	missense variant	-	NC_000015.10:g.90769158C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser778Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90769158C>T	NCI-TCGA
BLM	P54132	p.Ser778Cys	RCV000233226	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769158C>G	ClinVar
BLM	P54132	p.Asn782Ter	RCV000467746	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769166_90769167GA[3]	ClinVar
BLM	P54132	p.Leu783Phe	rs1430052148	missense variant	-	NC_000015.10:g.90769172C>T	gnomAD
BLM	P54132	p.Tyr784Phe	rs753635754	missense variant	-	NC_000015.10:g.90769176A>T	ExAC,gnomAD
BLM	P54132	p.Tyr784Ter	RCV000665636	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769172_90769173CT[3]	ClinVar
BLM	P54132	p.Tyr784Asn	rs779746222	missense variant	-	NC_000015.10:g.90769175T>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr784Cys	rs753635754	missense variant	-	NC_000015.10:g.90769176A>G	ExAC,gnomAD
BLM	P54132	p.Tyr784Ter	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90769175_90769176TA>-	NCI-TCGA
BLM	P54132	p.Tyr784Cys	RCV000540918	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769176A>G	ClinVar
BLM	P54132	p.Glu785Ter	RCV000696140	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769178_90769179insTT	ClinVar
BLM	P54132	p.Arg786Lys	rs369065966	missense variant	-	NC_000015.10:g.90769182G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys787Arg	rs778695045	missense variant	-	NC_000015.10:g.90769185A>G	ExAC,gnomAD
BLM	P54132	p.Leu788Ile	RCV000564057	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90769187C>A	ClinVar
BLM	P54132	p.Leu788Ile	RCV000115292	missense variant	-	NC_000015.10:g.90769187C>A	ClinVar
BLM	P54132	p.Leu788Ile	rs149754073	missense variant	-	NC_000015.10:g.90769187C>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Leu788Phe	rs149754073	missense variant	-	NC_000015.10:g.90769187C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Leu789Phe	rs1060500651	missense variant	-	NC_000015.10:g.90769192G>C	-
BLM	P54132	p.Leu789Phe	RCV000473419	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769192G>C	ClinVar
BLM	P54132	p.Ala790Thr	rs777355959	missense variant	-	NC_000015.10:g.90769193G>A	ExAC,gnomAD
BLM	P54132	p.Arg791Cys	rs55880859	missense variant	-	NC_000015.10:g.90769196C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg791His	rs1322472868	missense variant	-	NC_000015.10:g.90769197G>A	TOPMed,gnomAD
BLM	P54132	p.Arg791Cys	RCV000120226	missense variant	-	NC_000015.10:g.90769196C>T	ClinVar
BLM	P54132	p.Arg791Cys	RCV000628631	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769196C>T	ClinVar
BLM	P54132	p.Arg791Cys	RCV000568596	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90769196C>T	ClinVar
BLM	P54132	p.Val793Ile	rs1198070682	missense variant	-	NC_000015.10:g.90769202G>A	gnomAD
BLM	P54132	p.Ile794Thr	rs373819952	missense variant	-	NC_000015.10:g.90769206T>C	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala797Ser	rs1459262395	missense variant	-	NC_000015.10:g.90769214G>T	gnomAD
BLM	P54132	p.Ala797Pro	rs1459262395	missense variant	-	NC_000015.10:g.90769214G>C	gnomAD
BLM	P54132	p.His798Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90769217C>T	NCI-TCGA
BLM	P54132	p.Ser801Thr	rs1348827963	missense variant	-	NC_000015.10:g.90769227G>C	TOPMed
BLM	P54132	p.Ser801Gly	rs775698338	missense variant	-	NC_000015.10:g.90769226A>G	ExAC,gnomAD
BLM	P54132	p.Trp803Arg	rs148394770	missense variant	-	NC_000015.10:g.90769438T>C	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Trp803Leu	rs761938011	missense variant	-	NC_000015.10:g.90769439G>T	ExAC,gnomAD
BLM	P54132	p.Trp803Ter	RCV000035004	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769438dup	ClinVar
BLM	P54132	p.Trp803Ter	RCV000598767	frameshift	-	NC_000015.10:g.90769438dup	ClinVar
BLM	P54132	p.Gly804Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90769442G>T	NCI-TCGA
BLM	P54132	p.Gly804Ter	rs1412341951	stop gained	-	NC_000015.10:g.90769441G>T	gnomAD
BLM	P54132	p.His805Leu	rs766292814	missense variant	-	NC_000015.10:g.90769445A>T	ExAC,gnomAD
BLM	P54132	p.Asp806Asn	rs776635210	missense variant	-	NC_000015.10:g.90769447G>A	ExAC
BLM	P54132	p.Arg808Cys	rs759330541	missense variant	-	NC_000015.10:g.90769453C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg808His	rs1399382807	missense variant	-	NC_000015.10:g.90769454G>A	gnomAD
BLM	P54132	p.Arg808Cys	RCV000471360	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769453C>T	ClinVar
BLM	P54132	p.Gln809Pro	rs1415761543	missense variant	-	NC_000015.10:g.90769457A>C	TOPMed
BLM	P54132	p.Asp810His	rs765143263	missense variant	-	NC_000015.10:g.90769459G>C	ExAC,TOPMed
BLM	P54132	p.Asp810His	RCV000466282	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769459G>C	ClinVar
BLM	P54132	p.Asp810Asn	rs765143263	missense variant	-	NC_000015.10:g.90769459G>A	ExAC,TOPMed
BLM	P54132	p.Tyr811Cys	rs145029382	missense variant	-	NC_000015.10:g.90769463A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr811Cys	RCV000477499	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769463A>G	ClinVar
BLM	P54132	p.Lys812Gln	rs763827222	missense variant	-	NC_000015.10:g.90769465A>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys812Gln	RCV000628656	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769465A>C	ClinVar
BLM	P54132	p.Arg813Thr	rs1274275865	missense variant	-	NC_000015.10:g.90769469G>C	gnomAD
BLM	P54132	p.Met816Ile	rs756799764	missense variant	-	NC_000015.10:g.90769479G>A	ExAC,gnomAD
BLM	P54132	p.Met816Val	rs751100504	missense variant	-	NC_000015.10:g.90769477A>G	ExAC,gnomAD
BLM	P54132	p.Arg818Pro	rs780514723	missense variant	-	NC_000015.10:g.90769484G>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg818His	rs780514723	missense variant	-	NC_000015.10:g.90769484G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg818Cys	rs1279814185	missense variant	-	NC_000015.10:g.90769483C>T	TOPMed,gnomAD
BLM	P54132	p.Arg818Cys	RCV000554341	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769483C>T	ClinVar
BLM	P54132	p.Arg818Gly	rs1279814185	missense variant	-	NC_000015.10:g.90769483C>G	TOPMed,gnomAD
BLM	P54132	p.Arg818Gly	rs587779882	missense variant	-	NC_000015.10:g.90769483_90769485delinsGGG	-
BLM	P54132	p.Arg818His	RCV000532627	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769484G>A	ClinVar
BLM	P54132	p.Arg818Gly	RCV000628675	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769483C>G	ClinVar
BLM	P54132	p.Arg818Gly	RCV000115293	missense variant	-	NC_000015.10:g.90769483_90769485delinsGGG	ClinVar
BLM	P54132	p.Gln819Arg	rs1265964518	missense variant	-	NC_000015.10:g.90769487A>G	TOPMed,gnomAD
BLM	P54132	p.Phe821Cys	rs756574799	missense variant	-	NC_000015.10:g.90769493T>G	ExAC,gnomAD
BLM	P54132	p.Phe821Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90769493T>C	NCI-TCGA
BLM	P54132	p.Ser823Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90769499C>G	NCI-TCGA
BLM	P54132	p.Ser823Phe	COSM702119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90769499C>T	NCI-TCGA Cosmic
BLM	P54132	p.Pro825Leu	rs749632465	missense variant	-	NC_000015.10:g.90769505C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro825Leu	RCV000477248	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769505C>T	ClinVar
BLM	P54132	p.Pro825Gln	COSM966539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90769505C>A	NCI-TCGA Cosmic
BLM	P54132	p.Val826Gly	rs1476854295	missense variant	-	NC_000015.10:g.90769508T>G	gnomAD
BLM	P54132	p.Val826Leu	rs1319281718	missense variant	-	NC_000015.10:g.90769507G>T	TOPMed
BLM	P54132	p.Met827Lys	RCV000628648	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769511T>A	ClinVar
BLM	P54132	p.Met827Lys	rs748250819	missense variant	-	NC_000015.10:g.90769511T>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Met827Thr	rs748250819	missense variant	-	NC_000015.10:g.90769511T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Met827Ile	COSM6078038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90769512G>A	NCI-TCGA Cosmic
BLM	P54132	p.Leu829Arg	rs773112117	missense variant	-	NC_000015.10:g.90769517T>G	ExAC,gnomAD
BLM	P54132	p.Leu829Phe	rs1408373309	missense variant	-	NC_000015.10:g.90769516C>T	gnomAD
BLM	P54132	p.Thr830Met	rs759545027	missense variant	-	NC_000015.10:g.90769520C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr830Ter	RCV000035005	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769519dup	ClinVar
BLM	P54132	p.Thr832Ile	rs775471367	missense variant	-	NC_000015.10:g.90769526C>T	ExAC,gnomAD
BLM	P54132	p.Ala833Thr	rs763918749	missense variant	-	NC_000015.10:g.90769528G>A	ExAC,gnomAD
BLM	P54132	p.Asn834Tyr	COSM3402011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90769531A>T	NCI-TCGA Cosmic
BLM	P54132	p.Pro835Leu	rs1453740725	missense variant	-	NC_000015.10:g.90769535C>T	gnomAD
BLM	P54132	p.Arg836Gly	rs577806633	missense variant	-	NC_000015.10:g.90769537A>G	1000Genomes
BLM	P54132	p.Arg836Ter	RCV000574956	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90769537_90769538del	ClinVar
BLM	P54132	p.Arg836Gly	RCV000628669	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769537A>G	ClinVar
BLM	P54132	p.Arg836Ter	RCV000034897	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769537_90769538del	ClinVar
BLM	P54132	p.Arg836Ter	RCV000705086	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769537del	ClinVar
BLM	P54132	p.Lys839Met	rs756815062	missense variant	-	NC_000015.10:g.90769547A>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys839Arg	rs756815062	missense variant	-	NC_000015.10:g.90769547A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys839Glu	RCV000543633	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769546A>G	ClinVar
BLM	P54132	p.Lys839Glu	RCV000264848	missense variant	-	NC_000015.10:g.90769546A>G	ClinVar
BLM	P54132	p.Lys839Glu	rs201427280	missense variant	-	NC_000015.10:g.90769546A>G	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys839Arg	RCV000558307	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769547A>G	ClinVar
BLM	P54132	p.Lys839Glu	RCV000565904	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90769546A>G	ClinVar
BLM	P54132	p.Asp840His	rs1238410843	missense variant	-	NC_000015.10:g.90769549G>C	TOPMed,gnomAD
BLM	P54132	p.Asp840Asn	rs1238410843	missense variant	-	NC_000015.10:g.90769549G>A	TOPMed,gnomAD
BLM	P54132	p.Ile841Thr	rs767086502	missense variant	-	NC_000015.10:g.90769553T>C	ExAC,gnomAD
BLM	P54132	p.Ile841Thr	rs767086502	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769553T>C	UniProt,dbSNP
BLM	P54132	p.Ile841Thr	VAR_016032	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769553T>C	UniProt
BLM	P54132	p.Ile841ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90769552_90769553insC	NCI-TCGA
BLM	P54132	p.Leu842Met	rs1209722688	missense variant	-	NC_000015.10:g.90769555C>A	TOPMed,gnomAD
BLM	P54132	p.Leu842Pro	rs369535442	missense variant	-	NC_000015.10:g.90769556T>C	ESP
BLM	P54132	p.Leu842Met	RCV000532085	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769555C>A	ClinVar
BLM	P54132	p.Leu842ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90769553_90769554insTAGACATGTAAAAA	NCI-TCGA
BLM	P54132	p.Thr843Ile	rs137853152	missense variant	-	NC_000015.10:g.90769559C>T	-
BLM	P54132	p.Thr843Ile	rs137853152	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769559C>T	UniProt,dbSNP
BLM	P54132	p.Thr843Ile	VAR_006902	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769559C>T	UniProt
BLM	P54132	p.Gln844Pro	rs749871386	missense variant	-	NC_000015.10:g.90769562A>C	ExAC,gnomAD
BLM	P54132	p.Leu845Pro	rs981608488	missense variant	-	NC_000015.10:g.90769565T>C	TOPMed
BLM	P54132	p.Ile847Ser	rs756664681	missense variant	-	NC_000015.10:g.90769571T>G	ExAC,gnomAD
BLM	P54132	p.Ile847Ter	RCV000628660	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90769570del	ClinVar
BLM	P54132	p.Leu848Phe	rs1253226305	missense variant	-	NC_000015.10:g.90769573C>T	gnomAD
BLM	P54132	p.Arg849Lys	rs780523899	missense variant	-	NC_000015.10:g.90769577G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg849Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90769577G>C	NCI-TCGA
BLM	P54132	p.Gln851Glu	rs767638712	missense variant	-	NC_000015.10:g.90769582C>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln851Arg	RCV000687305	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90769583A>G	ClinVar
BLM	P54132	p.Gln851Arg	rs1454270314	missense variant	-	NC_000015.10:g.90769583A>G	gnomAD
BLM	P54132	p.Gln851Arg	RCV000592778	missense variant	-	NC_000015.10:g.90769583A>G	ClinVar
BLM	P54132	p.Ser854Asn	rs758692622	missense variant	-	NC_000015.10:g.90782827G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser854Gly	rs752969832	missense variant	-	NC_000015.10:g.90782826A>G	ExAC,gnomAD
BLM	P54132	p.Ser854Asn	RCV000628681	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782827G>A	ClinVar
BLM	P54132	p.Met855Val	RCV000703461	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782829A>G	ClinVar
BLM	P54132	p.Phe857Ser	RCV000709366	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782836T>C	ClinVar
BLM	P54132	p.Asn858Asp	RCV000546813	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782838A>G	ClinVar
BLM	P54132	p.Asn858Asp	rs1555422355	missense variant	-	NC_000015.10:g.90782838A>G	-
BLM	P54132	p.Arg859Ter	RCV000709367	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90782842_90782843del	ClinVar
BLM	P54132	p.His860Ter	RCV000204244	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90782846_90782847del	ClinVar
BLM	P54132	p.Tyr865Ser	rs777842626	missense variant	-	NC_000015.10:g.90782860A>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr865Cys	rs777842626	missense variant	-	NC_000015.10:g.90782860A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr865Cys	RCV000556974	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782860A>G	ClinVar
BLM	P54132	p.Val866Leu	rs1316728192	missense variant	-	NC_000015.10:g.90782862G>T	gnomAD
BLM	P54132	p.Pro868Arg	rs2227935	missense variant	-	NC_000015.10:g.90782869C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro868Leu	rs2227935	missense variant	-	NC_000015.10:g.90782869C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro868Leu	RCV000568944	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90782869C>T	ClinVar
BLM	P54132	p.Pro868Leu	RCV000586013	missense variant	-	NC_000015.10:g.90782869C>T	ClinVar
BLM	P54132	p.Pro868Leu	RCV000078058	missense variant	-	NC_000015.10:g.90782869C>T	ClinVar
BLM	P54132	p.Lys869Gln	RCV000628635	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782871A>C	ClinVar
BLM	P54132	p.Lys869Gln	rs1555422363	missense variant	-	NC_000015.10:g.90782871A>C	-
BLM	P54132	p.Lys873Asn	rs146723808	missense variant	-	NC_000015.10:g.90782885G>C	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys873Met	rs771826270	missense variant	-	NC_000015.10:g.90782884A>T	ExAC,gnomAD
BLM	P54132	p.Lys873Asn	RCV000469889	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782885G>C	ClinVar
BLM	P54132	p.Lys873Asn	RCV000570597	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90782885G>C	ClinVar
BLM	P54132	p.Phe876Leu	rs1173168035	missense variant	-	NC_000015.10:g.90782894T>G	gnomAD
BLM	P54132	p.Asp877Ala	rs1373872204	missense variant	-	NC_000015.10:g.90782896A>C	TOPMed,gnomAD
BLM	P54132	p.Asp877Gly	rs1373872204	missense variant	-	NC_000015.10:g.90782896A>G	TOPMed,gnomAD
BLM	P54132	p.Cys878Ser	rs966788239	missense variant	-	NC_000015.10:g.90782899G>C	TOPMed,gnomAD
BLM	P54132	p.Cys878Arg	VAR_016033	Missense	Bloom syndrome (BLM) [MIM:210900]	-	UniProt
BLM	P54132	p.Leu879Val	rs1461606733	missense variant	-	NC_000015.10:g.90782901C>G	TOPMed
BLM	P54132	p.Leu879Val	RCV000700665	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782901C>G	ClinVar
BLM	P54132	p.Glu880Gln	rs201770808	missense variant	-	NC_000015.10:g.90782904G>C	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu880Gln	RCV000120227	missense variant	-	NC_000015.10:g.90782904G>C	ClinVar
BLM	P54132	p.Trp881Ter	rs367543039	stop gained	-	NC_000015.10:g.90782909G>A	ExAC,gnomAD
BLM	P54132	p.His886Pro	rs1420145471	missense variant	-	NC_000015.10:g.90782923A>C	TOPMed
BLM	P54132	p.His886Tyr	rs765636566	missense variant	-	NC_000015.10:g.90782922C>T	ExAC,gnomAD
BLM	P54132	p.His886Asn	rs765636566	missense variant	-	NC_000015.10:g.90782922C>A	ExAC,gnomAD
BLM	P54132	p.His886Asn	RCV000628618	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782922C>A	ClinVar
BLM	P54132	p.Tyr888His	rs758696992	missense variant	-	NC_000015.10:g.90782928T>C	ExAC,gnomAD
BLM	P54132	p.Tyr888His	RCV000560159	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90782928T>C	ClinVar
BLM	P54132	p.Gly891Val	rs763471784	missense variant	-	NC_000015.10:g.90784930G>T	ExAC,gnomAD
BLM	P54132	p.Gly891Glu	rs763471784	missense variant	-	NC_000015.10:g.90784930G>A	ExAC,gnomAD
BLM	P54132	p.Gly891Glu	RCV000628643	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784930G>A	ClinVar
BLM	P54132	p.Gly891Arg	rs1391076273	missense variant	-	NC_000015.10:g.90784929G>A	TOPMed
BLM	P54132	p.Gly891Glu	VAR_009138	Missense	Bloom syndrome (BLM) [MIM:210900]	-	UniProt
BLM	P54132	p.Ile892Val	rs764587569	missense variant	-	NC_000015.10:g.90784932A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile892Met	rs1284962627	missense variant	-	NC_000015.10:g.90784934A>G	gnomAD
BLM	P54132	p.Ile892Val	RCV000628644	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784932A>G	ClinVar
BLM	P54132	p.Ile892Val	RCV000562947	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90784932A>G	ClinVar
BLM	P54132	p.Ile893Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90784937T>G	NCI-TCGA
BLM	P54132	p.Cys895Gly	rs587779883	missense variant	-	NC_000015.10:g.90784941T>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Cys895Gly	RCV000115297	missense variant	-	NC_000015.10:g.90784941T>G	ClinVar
BLM	P54132	p.Leu896Val	rs151309611	missense variant	-	NC_000015.10:g.90784944C>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Leu896Phe	rs151309611	missense variant	-	NC_000015.10:g.90784944C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser897Cys	rs750600011	missense variant	-	NC_000015.10:g.90784948C>G	ExAC,gnomAD
BLM	P54132	p.Arg899Ter	rs587779884	stop gained	-	NC_000015.10:g.90784953C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg899Gln	RCV000526943	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784954G>A	ClinVar
BLM	P54132	p.Arg899Gln	rs748054605	missense variant	-	NC_000015.10:g.90784954G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg899Ter	RCV000169191	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90784953C>T	ClinVar
BLM	P54132	p.Cys901Tyr	rs758311406	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784960G>A	UniProt,dbSNP
BLM	P54132	p.Cys901Tyr	VAR_009139	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784960G>A	UniProt
BLM	P54132	p.Cys901Tyr	rs758311406	missense variant	-	NC_000015.10:g.90784960G>A	ExAC,gnomAD
BLM	P54132	p.Asp902His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90784962G>C	NCI-TCGA
BLM	P54132	p.Thr903Ile	rs777584683	missense variant	-	NC_000015.10:g.90784966C>T	ExAC,gnomAD
BLM	P54132	p.Met904Thr	rs1160442115	missense variant	-	NC_000015.10:g.90784969T>C	gnomAD
BLM	P54132	p.Thr907Met	rs367953471	missense variant	-	NC_000015.10:g.90784978C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr907Ter	RCV000409206	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90784978_90784984del	ClinVar
BLM	P54132	p.Thr907Met	RCV000115299	missense variant	-	NC_000015.10:g.90784978C>T	ClinVar
BLM	P54132	p.Thr907Met	RCV000461478	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784978C>T	ClinVar
BLM	P54132	p.Thr907Met	RCV000566952	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90784978C>T	ClinVar
BLM	P54132	p.Leu908Val	rs1359674419	missense variant	-	NC_000015.10:g.90784980T>G	TOPMed
BLM	P54132	p.Gln909Arg	rs770627241	missense variant	-	NC_000015.10:g.90784984A>G	ExAC,gnomAD
BLM	P54132	p.Gln909Glu	rs1456964727	missense variant	-	NC_000015.10:g.90784983C>G	gnomAD
BLM	P54132	p.Arg910Thr	RCV000695718	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784987G>C	ClinVar
BLM	P54132	p.Leu913Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90784996T>G	NCI-TCGA
BLM	P54132	p.Ala914Thr	rs372013507	missense variant	-	NC_000015.10:g.90784998G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala914Thr	RCV000628649	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90784998G>A	ClinVar
BLM	P54132	p.Ala915Val	rs775026151	missense variant	-	NC_000015.10:g.90785002C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala915Val	RCV000541692	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785002C>T	ClinVar
BLM	P54132	p.Leu916Val	RCV000547337	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785004C>G	ClinVar
BLM	P54132	p.Leu916Phe	rs1424143421	missense variant	-	NC_000015.10:g.90785004C>T	TOPMed
BLM	P54132	p.Leu916Val	rs1424143421	missense variant	-	NC_000015.10:g.90785004C>G	TOPMed
BLM	P54132	p.His919Tyr	rs1284859576	missense variant	-	NC_000015.10:g.90785013C>T	gnomAD
BLM	P54132	p.Ala920Gly	rs1371241049	missense variant	-	NC_000015.10:g.90785017C>G	TOPMed
BLM	P54132	p.Gly921Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90785020G>T	NCI-TCGA
BLM	P54132	p.Leu922Pro	rs201432297	missense variant	-	NC_000015.10:g.90785023T>C	1000Genomes
BLM	P54132	p.Ser923Asn	rs1219485932	missense variant	-	NC_000015.10:g.90785026G>A	gnomAD
BLM	P54132	p.Ser923Thr	rs1219485932	missense variant	-	NC_000015.10:g.90785026G>C	gnomAD
BLM	P54132	p.Ser923Thr	RCV000628680	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785026G>C	ClinVar
BLM	P54132	p.Arg927Ser	rs1275060845	missense variant	-	NC_000015.10:g.90785039A>C	gnomAD
BLM	P54132	p.Asp928Glu	rs1032746564	missense variant	-	NC_000015.10:g.90785042T>A	gnomAD
BLM	P54132	p.Glu929Asp	rs764679551	missense variant	-	NC_000015.10:g.90785045A>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu929Gly	rs1198196712	missense variant	-	NC_000015.10:g.90785044A>G	TOPMed,gnomAD
BLM	P54132	p.Glu929Asp	RCV000542711	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785045A>C	ClinVar
BLM	P54132	p.Gln931Lys	rs1471344734	missense variant	-	NC_000015.10:g.90785049C>A	gnomAD
BLM	P54132	p.Gln931Arg	rs1178355159	missense variant	-	NC_000015.10:g.90785050A>G	gnomAD
BLM	P54132	p.Gln932Arg	rs1427273201	missense variant	-	NC_000015.10:g.90785053A>G	gnomAD
BLM	P54132	p.Ile935Val	rs774916971	missense variant	-	NC_000015.10:g.90785061A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn936Asp	RCV000628646	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785064A>G	ClinVar
BLM	P54132	p.Asn936Asp	rs1422513540	missense variant	-	NC_000015.10:g.90785064A>G	TOPMed,gnomAD
BLM	P54132	p.Asn936Ter	RCV000671509	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90785065del	ClinVar
BLM	P54132	p.Cys940Ser	rs1162125957	missense variant	-	NC_000015.10:g.90785077G>C	gnomAD
BLM	P54132	p.Gln941Ter	rs1057516700	stop gained	-	NC_000015.10:g.90785079C>T	-
BLM	P54132	p.Gln941Arg	rs762267785	missense variant	-	NC_000015.10:g.90785080A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln941Arg	RCV000232781	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90785080A>G	ClinVar
BLM	P54132	p.Gln941Ter	RCV000410779	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90785079C>T	ClinVar
BLM	P54132	p.Ile943Val	rs1301812486	missense variant	-	NC_000015.10:g.90790652A>G	TOPMed
BLM	P54132	p.Thr946Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90790662C>A	NCI-TCGA
BLM	P54132	p.Ile947Thr	rs1024172175	missense variant	-	NC_000015.10:g.90790665T>C	gnomAD
BLM	P54132	p.Ile947Val	rs189925962	missense variant	-	NC_000015.10:g.90790664A>G	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile947Thr	RCV000674804	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790665T>C	ClinVar
BLM	P54132	p.Ile947Val	RCV000541196	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790664A>G	ClinVar
BLM	P54132	p.Ala948Glu	rs1156545383	missense variant	-	NC_000015.10:g.90790668C>A	TOPMed
BLM	P54132	p.Gly950Ter	rs1215334301	stop gained	-	NC_000015.10:g.90790673G>T	TOPMed,gnomAD
BLM	P54132	p.Gly950Glu	rs575498961	missense variant	-	NC_000015.10:g.90790674G>A	1000Genomes,TOPMed
BLM	P54132	p.Met951Ter	RCV000694716	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90790676_90790682del	ClinVar
BLM	P54132	p.Gly952Val	rs367543034	missense variant	-	NC_000015.10:g.90790680G>T	gnomAD
BLM	P54132	p.Ile953Thr	RCV000573639	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90790683T>C	ClinVar
BLM	P54132	p.Ile953Thr	RCV000686394	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790683T>C	ClinVar
BLM	P54132	p.Pro956Leu	rs962069708	missense variant	-	NC_000015.10:g.90790692C>T	gnomAD
BLM	P54132	p.Val958Glu	RCV000556048	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790698T>A	ClinVar
BLM	P54132	p.Val958Glu	rs1555423088	missense variant	-	NC_000015.10:g.90790698T>A	-
BLM	P54132	p.Val958Met	rs775006576	missense variant	-	NC_000015.10:g.90790697G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg959Gln	rs772585415	missense variant	-	NC_000015.10:g.90790701G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg959Ter	rs762354041	stop gained	-	NC_000015.10:g.90790700C>T	ExAC,gnomAD
BLM	P54132	p.Arg959Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90790701G>T	NCI-TCGA
BLM	P54132	p.Arg959Ter	RCV000469284	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90790700C>T	ClinVar
BLM	P54132	p.Phe960Leu	rs760842454	missense variant	-	NC_000015.10:g.90790703T>C	ExAC,gnomAD
BLM	P54132	p.Val961Leu	rs1060500639	missense variant	-	NC_000015.10:g.90790706G>T	-
BLM	P54132	p.Val961Leu	RCV000467402	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790706G>T	ClinVar
BLM	P54132	p.Val961Ala	RCV000703486	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790707T>C	ClinVar
BLM	P54132	p.Leu966Pro	rs572734846	missense variant	-	NC_000015.10:g.90790722T>C	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Leu966Phe	rs554564999	missense variant	-	NC_000015.10:g.90790721C>T	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Lys968Glu	rs1267672804	missense variant	-	NC_000015.10:g.90790727A>G	TOPMed
BLM	P54132	p.Val970Leu	rs1243051560	missense variant	-	NC_000015.10:g.90790733G>T	TOPMed
BLM	P54132	p.Gly972Val	rs150475674	missense variant	-	NC_000015.10:g.90790740G>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr973Asn	RCV000628633	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790742T>A	ClinVar
BLM	P54132	p.Tyr973Asn	rs1555423104	missense variant	-	NC_000015.10:g.90790742T>A	-
BLM	P54132	p.Gln975Glu	rs757148522	missense variant	-	NC_000015.10:g.90790748C>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln975Ter	RCV000115301	frameshift	-	NC_000015.10:g.90790748del	ClinVar
BLM	P54132	p.Gln975Ter	RCV000571923	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90790748del	ClinVar
BLM	P54132	p.Gln975Ter	RCV000034902	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90790748del	ClinVar
BLM	P54132	p.Glu976Ter	rs780890722	stop gained	-	NC_000015.10:g.90790751G>T	ExAC,gnomAD
BLM	P54132	p.Gly978Val	rs750210123	missense variant	-	NC_000015.10:g.90790758G>T	ExAC,gnomAD
BLM	P54132	p.Arg979Thr	COSM1301578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90790761G>C	NCI-TCGA Cosmic
BLM	P54132	p.Ala980Pro	rs1041847799	missense variant	-	NC_000015.10:g.90790763G>C	gnomAD
BLM	P54132	p.Ala980Val	rs1215029737	missense variant	-	NC_000015.10:g.90790764C>T	gnomAD
BLM	P54132	p.Ala980Thr	rs1041847799	missense variant	-	NC_000015.10:g.90790763G>A	gnomAD
BLM	P54132	p.Arg982AsnIlePheIleIle	NCI-TCGA novel	insertion	-	NC_000015.10:g.90790770_90790771insGAACATTTTCATAAT	NCI-TCGA
BLM	P54132	p.Arg982Lys	rs1281589498	missense variant	-	NC_000015.10:g.90790770G>A	gnomAD
BLM	P54132	p.Gly984Arg	rs755784410	missense variant	-	NC_000015.10:g.90790775G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly984Arg	RCV000234425	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790775G>A	ClinVar
BLM	P54132	p.Gly984Val	COSM6143138	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90790776G>T	NCI-TCGA Cosmic
BLM	P54132	p.Glu985Asp	rs138329850	missense variant	-	NC_000015.10:g.90790780A>C	ESP,TOPMed
BLM	P54132	p.Ile986Thr	RCV000456674	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790782T>C	ClinVar
BLM	P54132	p.Ile986Thr	rs1060500631	missense variant	-	NC_000015.10:g.90790782T>C	-
BLM	P54132	p.Ile986Val	RCV000699725	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790781A>G	ClinVar
BLM	P54132	p.Ser987Cys	rs1555423111	missense variant	-	NC_000015.10:g.90790785C>G	-
BLM	P54132	p.Ser987Phe	rs1555423111	missense variant	-	NC_000015.10:g.90790785C>T	-
BLM	P54132	p.Ser987Cys	RCV000628637	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790785C>G	ClinVar
BLM	P54132	p.Ser987Phe	RCV000529683	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790785C>T	ClinVar
BLM	P54132	p.Cys989Arg	rs1555423112	missense variant	-	NC_000015.10:g.90790790T>C	-
BLM	P54132	p.Cys989Arg	RCV000544576	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790790T>C	ClinVar
BLM	P54132	p.Phe992Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90790799T>G	NCI-TCGA
BLM	P54132	p.Phe992Ser	rs371418699	missense variant	-	NC_000015.10:g.90790800T>C	ESP,TOPMed,gnomAD
BLM	P54132	p.Tyr993Cys	rs1245758227	missense variant	-	NC_000015.10:g.90790803A>G	gnomAD
BLM	P54132	p.Thr994Ala	RCV000466196	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790805A>G	ClinVar
BLM	P54132	p.Thr994Ala	rs1060500632	missense variant	-	NC_000015.10:g.90790805A>G	-
BLM	P54132	p.Tyr995His	RCV000628665	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790808T>C	ClinVar
BLM	P54132	p.Tyr995His	rs142723411	missense variant	-	NC_000015.10:g.90790808T>C	ESP,TOPMed
BLM	P54132	p.Tyr995Cys	rs779755994	missense variant	-	NC_000015.10:g.90790809A>G	ExAC,gnomAD
BLM	P54132	p.Tyr995Phe	rs779755994	missense variant	-	NC_000015.10:g.90790809A>T	ExAC,gnomAD
BLM	P54132	p.His996Tyr	rs1195271909	missense variant	-	NC_000015.10:g.90790811C>T	TOPMed,gnomAD
BLM	P54132	p.His996Arg	rs1451226538	missense variant	-	NC_000015.10:g.90790812A>G	TOPMed
BLM	P54132	p.Thr999Ser	RCV000700982	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790821C>G	ClinVar
BLM	P54132	p.Arg1000Ser	rs1395403568	missense variant	-	NC_000015.10:g.90790825A>T	gnomAD
BLM	P54132	p.Arg1000Ser	RCV000688420	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790825A>T	ClinVar
BLM	P54132	p.Lys1002Glu	rs768296840	missense variant	-	NC_000015.10:g.90790829A>G	ExAC,gnomAD
BLM	P54132	p.Leu1004Phe	rs778515103	missense variant	-	NC_000015.10:g.90790835C>T	ExAC,gnomAD
BLM	P54132	p.Ile1005Thr	rs772671554	missense variant	-	NC_000015.10:g.90790839T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile1005Met	RCV000692961	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790840A>G	ClinVar
BLM	P54132	p.Ile1005Arg	rs772671554	missense variant	-	NC_000015.10:g.90790839T>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile1005Val	rs201829983	missense variant	-	NC_000015.10:g.90790838A>G	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile1005Val	RCV000465861	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90790838A>G	ClinVar
BLM	P54132	p.Met1006Ter	RCV000672550	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90790841_90790842del	ClinVar
BLM	P54132	p.Met1006Val	rs1269752252	missense variant	-	NC_000015.10:g.90790841A>G	TOPMed
BLM	P54132	p.Met1006Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90790843G>A	NCI-TCGA
BLM	P54132	p.Met1006Ter	RCV000190641	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90790839_90790840insTATCA	ClinVar
BLM	P54132	p.Met1007Ile	RCV000705545	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794168G>A	ClinVar
BLM	P54132	p.Met1007Ile	rs1244649224	missense variant	-	NC_000015.10:g.90794168G>A	TOPMed,gnomAD
BLM	P54132	p.Glu1008Ter	RCV000409280	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90794169del	ClinVar
BLM	P54132	p.Asp1010Ter	RCV000574982	frameshift	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794175del	ClinVar
BLM	P54132	p.Asp1010Val	rs1459742200	missense variant	-	NC_000015.10:g.90794176A>T	-
BLM	P54132	p.Asp1010Ter	RCV000169440	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90794175del	ClinVar
BLM	P54132	p.Asp1010Val	RCV000699029	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794176A>T	ClinVar
BLM	P54132	p.Gly1011Arg	rs370073229	missense variant	-	NC_000015.10:g.90794178G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly1011Arg	RCV000467591	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794178G>A	ClinVar
BLM	P54132	p.Asn1012Asp	rs778338724	missense variant	-	NC_000015.10:g.90794181A>G	ExAC,gnomAD
BLM	P54132	p.Asn1012Lys	rs553767830	missense variant	-	NC_000015.10:g.90794183C>G	1000Genomes
BLM	P54132	p.His1014Arg	rs145022945	missense variant	-	NC_000015.10:g.90794188A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.His1014Arg	RCV000563912	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794188A>G	ClinVar
BLM	P54132	p.Thr1015Ile	RCV000473191	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794191C>T	ClinVar
BLM	P54132	p.Thr1015Arg	rs202196488	missense variant	-	NC_000015.10:g.90794191C>G	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr1015Ile	rs202196488	missense variant	-	NC_000015.10:g.90794191C>T	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr1015Ile	RCV000570913	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794191C>T	ClinVar
BLM	P54132	p.Thr1015Ile	RCV000115302	missense variant	-	NC_000015.10:g.90794191C>T	ClinVar
BLM	P54132	p.Arg1016Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90794194G>T	NCI-TCGA
BLM	P54132	p.Glu1017Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90794196G>A	NCI-TCGA
BLM	P54132	p.His1019Pro	rs769982824	missense variant	-	NC_000015.10:g.90794203A>C	ExAC
BLM	P54132	p.Phe1020Leu	rs763020597	missense variant	-	NC_000015.10:g.90794207C>A	ExAC,gnomAD
BLM	P54132	p.Asn1021Asp	rs374105075	missense variant	-	NC_000015.10:g.90794208A>G	ESP,TOPMed
BLM	P54132	p.Asn1021Ser	rs369629509	missense variant	-	NC_000015.10:g.90794209A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn1021Asp	RCV000575877	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794208A>G	ClinVar
BLM	P54132	p.Asn1021Ile	RCV000557879	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794209A>T	ClinVar
BLM	P54132	p.Asn1021Ser	RCV000543071	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794209A>G	ClinVar
BLM	P54132	p.Asn1021Ile	rs369629509	missense variant	-	NC_000015.10:g.90794209A>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn1022Thr	RCV000709369	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794212A>C	ClinVar
BLM	P54132	p.Tyr1024Cys	rs201676342	missense variant	-	NC_000015.10:g.90794218A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr1024Cys	RCV000312131	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794218A>G	ClinVar
BLM	P54132	p.Met1026Val	rs766225961	missense variant	-	NC_000015.10:g.90794223A>G	ExAC,gnomAD
BLM	P54132	p.Val1027Ile	rs1300299815	missense variant	-	NC_000015.10:g.90794226G>A	TOPMed,gnomAD
BLM	P54132	p.Val1027Ile	RCV000628636	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794226G>A	ClinVar
BLM	P54132	p.Val1027Ile	RCV000567485	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794226G>A	ClinVar
BLM	P54132	p.His1028Arg	RCV000697671	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794230A>G	ClinVar
BLM	P54132	p.His1028Arg	rs1487267563	missense variant	-	NC_000015.10:g.90794230A>G	TOPMed
BLM	P54132	p.His1028Leu	rs1487267563	missense variant	-	NC_000015.10:g.90794230A>T	TOPMed
BLM	P54132	p.His1028Tyr	COSM1375448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90794229C>T	NCI-TCGA Cosmic
BLM	P54132	p.Cys1030Tyr	rs1397630614	missense variant	-	NC_000015.10:g.90794236G>A	gnomAD
BLM	P54132	p.Cys1030Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90794236G>T	NCI-TCGA
BLM	P54132	p.Glu1031Ter	rs1396000294	stop gained	-	NC_000015.10:g.90794238G>T	TOPMed,gnomAD
BLM	P54132	p.Glu1031Lys	rs1396000294	missense variant	-	NC_000015.10:g.90794238G>A	TOPMed,gnomAD
BLM	P54132	p.Glu1031Lys	RCV000703268	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794238G>A	ClinVar
BLM	P54132	p.Asn1032His	rs1311585637	missense variant	-	NC_000015.10:g.90794241A>C	gnomAD
BLM	P54132	p.Ile1033Thr	rs1060500647	missense variant	-	NC_000015.10:g.90794245T>C	-
BLM	P54132	p.Ile1033Thr	RCV000467993	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794245T>C	ClinVar
BLM	P54132	p.Thr1034Met	rs753652339	missense variant	-	NC_000015.10:g.90794248C>T	ExAC,gnomAD
BLM	P54132	p.Thr1034Met	RCV000562962	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794248C>T	ClinVar
BLM	P54132	p.Glu1035Gln	rs764965627	missense variant	-	NC_000015.10:g.90794250G>C	ExAC,gnomAD
BLM	P54132	p.Glu1035Gly	rs1288025724	missense variant	-	NC_000015.10:g.90794251A>G	TOPMed
BLM	P54132	p.Glu1035Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.90794250G>T	NCI-TCGA
BLM	P54132	p.Cys1036Phe	rs137853153	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794254G>T	UniProt,dbSNP
BLM	P54132	p.Cys1036Phe	VAR_009140	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794254G>T	UniProt
BLM	P54132	p.Cys1036Phe	rs137853153	missense variant	Bloom syndrome (blm)	NC_000015.10:g.90794254G>T	-
BLM	P54132	p.Cys1036Phe	RCV000005790	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794254G>T	ClinVar
BLM	P54132	p.Arg1037Lys	rs990520268	missense variant	-	NC_000015.10:g.90794257G>A	TOPMed
BLM	P54132	p.Arg1038Thr	RCV000550933	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794260G>C	ClinVar
BLM	P54132	p.Arg1038Thr	rs1555423425	missense variant	-	NC_000015.10:g.90794260G>C	-
BLM	P54132	p.Ile1039Met	rs576199850	missense variant	-	NC_000015.10:g.90794264A>G	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile1039Met	RCV000469707	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794264A>G	ClinVar
BLM	P54132	p.Leu1041Phe	rs1224723855	missense variant	-	NC_000015.10:g.90794268C>T	gnomAD
BLM	P54132	p.Ala1043Val	rs2229035	missense variant	-	NC_000015.10:g.90794275C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala1043Asp	rs2229035	missense variant	-	NC_000015.10:g.90794275C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala1043Asp	RCV000572905	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90794275C>A	ClinVar
BLM	P54132	p.Tyr1044Cys	rs747571272	missense variant	-	NC_000015.10:g.90794278A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr1044Cys	RCV000556376	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794278A>G	ClinVar
BLM	P54132	p.Gly1046Ser	rs373241803	missense variant	-	NC_000015.10:g.90794283G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu1047Lys	rs781586548	missense variant	-	NC_000015.10:g.90794286G>A	ExAC,gnomAD
BLM	P54132	p.Gly1049Ter	rs1188753950	stop gained	-	NC_000015.10:g.90794292G>T	gnomAD
BLM	P54132	p.Asn1051Lys	rs1262516507	missense variant	-	NC_000015.10:g.90794300T>A	gnomAD
BLM	P54132	p.Cys1055Tyr	rs367543029	missense variant	-	NC_000015.10:g.90794311G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Cys1055Arg	RCV000664476	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794310T>C	ClinVar
BLM	P54132	p.Cys1055Ser	rs367543029	missense variant	-	NC_000015.10:g.90794311G>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Cys1055Ser	rs367543029	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794311G>C	UniProt,dbSNP
BLM	P54132	p.Cys1055Ser	VAR_006903	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794311G>C	UniProt
BLM	P54132	p.Cys1055Arg	rs746218707	missense variant	-	NC_000015.10:g.90794310T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Cys1055Ser	RCV000034904	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794311G>C	ClinVar
BLM	P54132	p.Lys1056Arg	RCV000701463	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794314A>G	ClinVar
BLM	P54132	p.Lys1056Arg	rs1465842377	missense variant	-	NC_000015.10:g.90794314A>G	gnomAD
BLM	P54132	p.His1058Asp	rs1351087442	missense variant	-	NC_000015.10:g.90794319C>G	TOPMed
BLM	P54132	p.His1058Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90794320A>G	NCI-TCGA
BLM	P54132	p.Pro1059Leu	rs775698524	missense variant	-	NC_000015.10:g.90794323C>T	ExAC,gnomAD
BLM	P54132	p.Asp1060Val	rs1377802274	missense variant	-	NC_000015.10:g.90794326A>T	gnomAD
BLM	P54132	p.Ser1062Ala	rs768806041	missense variant	-	NC_000015.10:g.90794331T>G	ExAC,gnomAD
BLM	P54132	p.Asp1064Gly	rs367543032	missense variant	-	NC_000015.10:g.90794338A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp1064Val	rs367543032	missense variant	-	NC_000015.10:g.90794338A>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp1064Gly	RCV000534857	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90794338A>G	ClinVar
BLM	P54132	p.Cys1067Tyr	rs587779885	missense variant	-	NC_000015.10:g.90794347G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Cys1067Tyr	RCV000115304	missense variant	-	NC_000015.10:g.90794347G>A	ClinVar
BLM	P54132	p.Asp1071Tyr	rs794727180	missense variant	-	NC_000015.10:g.90798190G>T	gnomAD
BLM	P54132	p.Asp1071Asn	rs794727180	missense variant	-	NC_000015.10:g.90798190G>A	gnomAD
BLM	P54132	p.Asp1071Tyr	RCV000175117	missense variant	-	NC_000015.10:g.90798190G>T	ClinVar
BLM	P54132	p.Thr1074Ile	rs144021705	missense variant	-	NC_000015.10:g.90798200C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg1075Lys	rs749559270	missense variant	-	NC_000015.10:g.90798203G>A	ExAC,gnomAD
BLM	P54132	p.Arg1075Thr	COSM4605113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90798203G>C	NCI-TCGA Cosmic
BLM	P54132	p.Asp1076Asn	rs1306187879	missense variant	-	NC_000015.10:g.90798205G>A	gnomAD
BLM	P54132	p.Asp1076Ter	RCV000666852	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90798201_90798202del	ClinVar
BLM	P54132	p.Asp1076Gly	COSM6078037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90798206A>G	NCI-TCGA Cosmic
BLM	P54132	p.Val1077Met	RCV000551724	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798208G>A	ClinVar
BLM	P54132	p.Val1077Met	rs779096973	missense variant	-	NC_000015.10:g.90798208G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Val1077Ala	rs748158921	missense variant	-	NC_000015.10:g.90798209T>C	ExAC,gnomAD
BLM	P54132	p.Asp1079His	rs771055974	missense variant	-	NC_000015.10:g.90798214G>C	ExAC,gnomAD
BLM	P54132	p.Asp1079Gly	RCV000475328	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798215A>G	ClinVar
BLM	P54132	p.Asp1079Gly	rs776714693	missense variant	-	NC_000015.10:g.90798215A>G	ExAC,gnomAD
BLM	P54132	p.Asp1079Asn	COSM1301579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90798214G>A	NCI-TCGA Cosmic
BLM	P54132	p.Asp1080Asn	rs771767745	missense variant	-	NC_000015.10:g.90798217G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp1080His	RCV000628676	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798217G>C	ClinVar
BLM	P54132	p.Asp1080Val	rs775383361	missense variant	-	NC_000015.10:g.90798218A>T	ExAC,gnomAD
BLM	P54132	p.Asp1080His	rs771767745	missense variant	-	NC_000015.10:g.90798217G>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp1080Asn	RCV000228367	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798217G>A	ClinVar
BLM	P54132	p.Val1081Glu	rs762716289	missense variant	-	NC_000015.10:g.90798221T>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Val1081Glu	RCV000232488	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798221T>A	ClinVar
BLM	P54132	p.Ile1084Val	rs1421330208	missense variant	-	NC_000015.10:g.90798229A>G	gnomAD
BLM	P54132	p.Val1085Leu	rs761235042	missense variant	-	NC_000015.10:g.90798232G>T	ExAC,gnomAD
BLM	P54132	p.Phe1087Ter	RCV000525613	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90798240del	ClinVar
BLM	P54132	p.Phe1087Cys	COSM256403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90798239T>G	NCI-TCGA Cosmic
BLM	P54132	p.Val1088Leu	rs934966838	missense variant	-	NC_000015.10:g.90798241G>C	gnomAD
BLM	P54132	p.Val1088Ile	rs934966838	missense variant	-	NC_000015.10:g.90798241G>A	gnomAD
BLM	P54132	p.Val1088Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90798241G>T	NCI-TCGA
BLM	P54132	p.Val1088LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90798237_90798238insTT	NCI-TCGA
BLM	P54132	p.Gln1089Ter	rs1406087403	stop gained	-	NC_000015.10:g.90798244C>T	TOPMed
BLM	P54132	p.His1091Arg	rs750954124	missense variant	-	NC_000015.10:g.90798251A>G	ExAC,gnomAD
BLM	P54132	p.His1091Arg	RCV000226325	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798251A>G	ClinVar
BLM	P54132	p.His1091Tyr	rs766959096	missense variant	-	NC_000015.10:g.90798250C>T	ExAC,gnomAD
BLM	P54132	p.His1091Arg	RCV000499533	missense variant	-	NC_000015.10:g.90798251A>G	ClinVar
BLM	P54132	p.Ser1092Arg	rs756576705	missense variant	-	NC_000015.10:g.90798255T>A	ExAC,gnomAD
BLM	P54132	p.Ser1093Leu	RCV000120229	missense variant	-	NC_000015.10:g.90798257C>T	ClinVar
BLM	P54132	p.Ser1093Leu	rs367543017	missense variant	-	NC_000015.10:g.90798257C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser1093Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.90798257C>A	NCI-TCGA
BLM	P54132	p.Ser1093Ter	rs367543017	stop gained	-	NC_000015.10:g.90798257C>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser1094Ter	rs1472603091	stop gained	-	NC_000015.10:g.90798260C>A	TOPMed
BLM	P54132	p.Gln1095Lys	rs754127572	missense variant	-	NC_000015.10:g.90798262C>A	ExAC,gnomAD
BLM	P54132	p.Gly1096Val	RCV000458942	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798266G>T	ClinVar
BLM	P54132	p.Gly1096Arg	rs1334208387	missense variant	-	NC_000015.10:g.90798265G>A	TOPMed,gnomAD
BLM	P54132	p.Gly1096Val	rs893352310	missense variant	-	NC_000015.10:g.90798266G>T	TOPMed,gnomAD
BLM	P54132	p.Gly1096Arg	RCV000550356	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798265G>A	ClinVar
BLM	P54132	p.Arg1098Lys	rs912777535	missense variant	-	NC_000015.10:g.90798272G>A	TOPMed,gnomAD
BLM	P54132	p.Ile1100Arg	rs755282763	missense variant	-	NC_000015.10:g.90798278T>G	ExAC,gnomAD
BLM	P54132	p.Lys1101Glu	rs1248013291	missense variant	-	NC_000015.10:g.90798280A>G	TOPMed
BLM	P54132	p.His1102Gln	rs1204277225	missense variant	-	NC_000015.10:g.90798285T>A	gnomAD
BLM	P54132	p.His1102Tyr	rs1214857956	missense variant	-	NC_000015.10:g.90798283C>T	TOPMed
BLM	P54132	p.His1102Ter	RCV000411218	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90798284_90798285del	ClinVar
BLM	P54132	p.His1102Arg	rs778994524	missense variant	-	NC_000015.10:g.90798284A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Val1103Ala	rs1481919924	missense variant	-	NC_000015.10:g.90798287T>C	gnomAD
BLM	P54132	p.Val1103Ile	rs748331529	missense variant	-	NC_000015.10:g.90798286G>A	ExAC,gnomAD
BLM	P54132	p.Gly1104Ser	RCV000229039	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798289G>A	ClinVar
BLM	P54132	p.Gly1104Ser	rs141269464	missense variant	-	NC_000015.10:g.90798289G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly1104Asp	RCV000528775	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798290G>A	ClinVar
BLM	P54132	p.Gly1104Asp	rs150784889	missense variant	-	NC_000015.10:g.90798290G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro1105Ala	rs369142038	missense variant	-	NC_000015.10:g.90798292C>G	ESP,TOPMed
BLM	P54132	p.Pro1105Ser	rs369142038	missense variant	-	NC_000015.10:g.90798292C>T	ESP,TOPMed
BLM	P54132	p.Ser1106Cys	rs769834593	missense variant	-	NC_000015.10:g.90798296C>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg1108Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90798302G>C	NCI-TCGA
BLM	P54132	p.Phe1109Ser	rs775415040	missense variant	-	NC_000015.10:g.90798305T>C	ExAC,gnomAD
BLM	P54132	p.Thr1110Ala	rs749033343	missense variant	-	NC_000015.10:g.90798307A>G	ExAC,gnomAD
BLM	P54132	p.Met1111Val	rs1169507483	missense variant	-	NC_000015.10:g.90798310A>G	TOPMed,gnomAD
BLM	P54132	p.Asn1112His	rs1352520577	missense variant	-	NC_000015.10:g.90798313A>C	gnomAD
BLM	P54132	p.Leu1114Pro	RCV000538795	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798320T>C	ClinVar
BLM	P54132	p.Leu1114Pro	rs1444338168	missense variant	-	NC_000015.10:g.90798320T>C	gnomAD
BLM	P54132	p.Val1115Ala	rs768432133	missense variant	-	NC_000015.10:g.90798323T>C	ExAC,gnomAD
BLM	P54132	p.Asp1116His	RCV000466894	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798325G>C	ClinVar
BLM	P54132	p.Asp1116Asn	rs936749145	missense variant	-	NC_000015.10:g.90798325G>A	TOPMed
BLM	P54132	p.Asp1116His	rs936749145	missense variant	-	NC_000015.10:g.90798325G>C	TOPMed
BLM	P54132	p.Phe1118Leu	RCV000628630	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798333C>A	ClinVar
BLM	P54132	p.Phe1118Leu	rs1351493073	missense variant	-	NC_000015.10:g.90798333C>A	TOPMed
BLM	P54132	p.Gly1120Arg	rs139773499	missense variant	-	NC_000015.10:g.90798337G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly1120Glu	rs753072653	missense variant	-	NC_000015.10:g.90803521G>A	ExAC,gnomAD
BLM	P54132	p.Gly1120Arg	RCV000553710	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90798337G>A	ClinVar
BLM	P54132	p.Ser1121Asn	rs758753168	missense variant	-	NC_000015.10:g.90803524G>A	ExAC,gnomAD
BLM	P54132	p.Ser1121Ile	rs758753168	missense variant	-	NC_000015.10:g.90803524G>T	ExAC,gnomAD
BLM	P54132	p.Lys1122Glu	rs374557999	missense variant	-	NC_000015.10:g.90803526A>G	ESP,ExAC
BLM	P54132	p.Lys1122Thr	rs1175406197	missense variant	-	NC_000015.10:g.90803527A>C	gnomAD
BLM	P54132	p.Ala1124Val	rs751765688	missense variant	-	NC_000015.10:g.90803533C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala1124Gly	rs751765688	missense variant	-	NC_000015.10:g.90803533C>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln1127His	COSM434545	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90803543G>T	NCI-TCGA Cosmic
BLM	P54132	p.Gly1129Val	rs375841213	missense variant	-	NC_000015.10:g.90803548G>T	gnomAD
BLM	P54132	p.Gly1129Asp	rs375841213	missense variant	-	NC_000015.10:g.90803548G>A	gnomAD
BLM	P54132	p.Gly1129Arg	rs781287681	missense variant	-	NC_000015.10:g.90803547G>C	ExAC,gnomAD
BLM	P54132	p.Gly1129Asp	RCV000527258	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803548G>A	ClinVar
BLM	P54132	p.Phe1131Ser	rs1303187650	missense variant	-	NC_000015.10:g.90803554T>C	gnomAD
BLM	P54132	p.Gly1132Val	rs754915610	missense variant	-	NC_000015.10:g.90803557G>T	ExAC,gnomAD
BLM	P54132	p.Gly1132Arg	rs749219353	missense variant	-	NC_000015.10:g.90803556G>C	ExAC,gnomAD
BLM	P54132	p.Lys1133Glu	RCV000542140	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803559A>G	ClinVar
BLM	P54132	p.Lys1133Glu	RCV000115306	missense variant	-	NC_000015.10:g.90803559A>G	ClinVar
BLM	P54132	p.Lys1133Glu	rs145027663	missense variant	-	NC_000015.10:g.90803559A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly1134Glu	rs1555424286	missense variant	-	NC_000015.10:g.90803563G>A	-
BLM	P54132	p.Gly1134Ter	rs1057516774	stop gained	-	NC_000015.10:g.90803562G>T	-
BLM	P54132	p.Gly1134Ter	RCV000412132	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90803562G>T	ClinVar
BLM	P54132	p.Gly1134Glu	RCV000628684	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803563G>A	ClinVar
BLM	P54132	p.Arg1139Pro	rs771776126	missense variant	-	NC_000015.10:g.90803578G>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg1139Gln	RCV000628686	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803578G>A	ClinVar
BLM	P54132	p.Arg1139Ter	rs587783037	stop gained	-	NC_000015.10:g.90803577C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg1139Pro	RCV000475513	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803578G>C	ClinVar
BLM	P54132	p.Arg1139Pro	RCV000708668	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803578G>C	ClinVar
BLM	P54132	p.Arg1139Gln	rs771776126	missense variant	-	NC_000015.10:g.90803578G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg1139Ter	RCV000144576	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90803577C>T	ClinVar
BLM	P54132	p.His1140Tyr	rs746602812	missense variant	-	NC_000015.10:g.90803580C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.His1140Tyr	RCV000327819	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803580C>T	ClinVar
BLM	P54132	p.His1140Gln	COSM471248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90803582C>A	NCI-TCGA Cosmic
BLM	P54132	p.Asn1141Ser	rs770370129	missense variant	-	NC_000015.10:g.90803584A>G	ExAC,gnomAD
BLM	P54132	p.Glu1143Lys	RCV000475273	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803589G>A	ClinVar
BLM	P54132	p.Glu1143Lys	rs140387675	missense variant	-	NC_000015.10:g.90803589G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu1143Lys	RCV000566047	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803589G>A	ClinVar
BLM	P54132	p.Glu1143Lys	RCV000115307	missense variant	-	NC_000015.10:g.90803589G>A	ClinVar
BLM	P54132	p.Arg1144Ile	COSM274139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90803593G>T	NCI-TCGA Cosmic
BLM	P54132	p.Leu1145Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90803596T>G	NCI-TCGA
BLM	P54132	p.Phe1146Ser	rs1407593661	missense variant	-	NC_000015.10:g.90803599T>C	TOPMed
BLM	P54132	p.Lys1147Ter	rs770311534	stop gained	-	NC_000015.10:g.90803601A>T	ExAC,TOPMed
BLM	P54132	p.Lys1148Ter	RCV000657840	nonsense	-	NC_000015.10:g.90803607del	ClinVar
BLM	P54132	p.Leu1149Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90803607C>A	NCI-TCGA
BLM	P54132	p.Ile1150Thr	RCV000574403	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803611T>C	ClinVar
BLM	P54132	p.Ile1150Thr	rs1378138456	missense variant	-	NC_000015.10:g.90803611T>C	TOPMed,gnomAD
BLM	P54132	p.Ile1150Thr	RCV000686504	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803611T>C	ClinVar
BLM	P54132	p.Leu1151Phe	rs1469527799	missense variant	-	NC_000015.10:g.90803613C>T	gnomAD
BLM	P54132	p.Asp1152Tyr	rs1156919580	missense variant	-	NC_000015.10:g.90803616G>T	gnomAD
BLM	P54132	p.Lys1153Asn	rs776065910	missense variant	-	NC_000015.10:g.90803621G>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp1156Asn	rs1458000028	missense variant	-	NC_000015.10:g.90803628G>A	gnomAD
BLM	P54132	p.Glu1157Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90803631G>A	NCI-TCGA
BLM	P54132	p.Asp1158Asn	RCV000691225	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803634G>A	ClinVar
BLM	P54132	p.Asp1158Gly	COSM4912699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90803635A>G	NCI-TCGA Cosmic
BLM	P54132	p.Leu1159Ter	RCV000034910	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90803637_90803638del	ClinVar
BLM	P54132	p.Tyr1160His	rs752389778	missense variant	-	NC_000015.10:g.90803640T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asn1162Ser	rs1237460907	missense variant	-	NC_000015.10:g.90803647A>G	TOPMed,gnomAD
BLM	P54132	p.Asn1162Ser	RCV000552185	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803647A>G	ClinVar
BLM	P54132	p.Asn1164Ser	rs751855048	missense variant	-	NC_000015.10:g.90803653A>G	ExAC,gnomAD
BLM	P54132	p.Gln1166Arg	rs371774802	missense variant	-	NC_000015.10:g.90803659A>G	ESP,ExAC,gnomAD
BLM	P54132	p.Gln1166Leu	rs371774802	missense variant	-	NC_000015.10:g.90803659A>T	ESP,ExAC,gnomAD
BLM	P54132	p.Gln1166Leu	RCV000797814	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803659A>T	ClinVar
BLM	P54132	p.Gln1166Leu	RCV000570286	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803659A>T	ClinVar
BLM	P54132	p.Ala1167Gly	rs987150263	missense variant	-	NC_000015.10:g.90803662C>G	TOPMed
BLM	P54132	p.Ala1167Glu	rs987150263	missense variant	-	NC_000015.10:g.90803662C>A	TOPMed
BLM	P54132	p.Ala1167Thr	rs778901209	missense variant	-	NC_000015.10:g.90803661G>A	ExAC,gnomAD
BLM	P54132	p.Ala1167Gly	RCV000628685	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803662C>G	ClinVar
BLM	P54132	p.Ala1167Ter	RCV000665331	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90803661del	ClinVar
BLM	P54132	p.Ala1169Thr	RCV000628682	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803667G>A	ClinVar
BLM	P54132	p.Ala1169Thr	rs777492549	missense variant	-	NC_000015.10:g.90803667G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr1170Phe	rs746692894	missense variant	-	NC_000015.10:g.90803671A>T	ExAC,gnomAD
BLM	P54132	p.Tyr1170Ser	rs746692894	missense variant	-	NC_000015.10:g.90803671A>C	ExAC,gnomAD
BLM	P54132	p.Tyr1170Ter	RCV000674492	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90803670del	ClinVar
BLM	P54132	p.Val1171Met	rs770585247	missense variant	-	NC_000015.10:g.90803673G>A	ExAC,gnomAD
BLM	P54132	p.Val1171Met	RCV000628629	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90803673G>A	ClinVar
BLM	P54132	p.Met1172Thr	rs1455140376	missense variant	-	NC_000015.10:g.90803677T>C	gnomAD
BLM	P54132	p.Met1172Leu	rs745380387	missense variant	-	NC_000015.10:g.90803676A>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Met1172Val	rs745380387	missense variant	-	NC_000015.10:g.90803676A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly1174Arg	rs776156059	missense variant	-	NC_000015.10:g.90803682G>A	ExAC,gnomAD
BLM	P54132	p.Thr1179Ile	RCV000567776	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90803698C>T	ClinVar
BLM	P54132	p.Thr1179Ile	rs1555424324	missense variant	-	NC_000015.10:g.90803698C>T	-
BLM	P54132	p.Thr1179Ala	rs1344786638	missense variant	-	NC_000015.10:g.90803697A>G	TOPMed
BLM	P54132	p.Val1180Ile	rs1324479116	missense variant	-	NC_000015.10:g.90803700G>A	TOPMed
BLM	P54132	p.Val1180Ala	rs774828730	missense variant	-	NC_000015.10:g.90803701T>C	ExAC,gnomAD
BLM	P54132	p.Asn1182Thr	rs767771169	missense variant	-	NC_000015.10:g.90803707A>C	ExAC,gnomAD
BLM	P54132	p.Asn1184His	rs1463025227	missense variant	-	NC_000015.10:g.90803712A>C	TOPMed
BLM	P54132	p.Lys1186Glu	rs750532596	missense variant	-	NC_000015.10:g.90803718A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Val1187Ile	rs547814390	missense variant	-	NC_000015.10:g.90804167G>A	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Val1187Leu	COSM966551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90804167G>T	NCI-TCGA Cosmic
BLM	P54132	p.Asp1188Gly	rs899745787	missense variant	-	NC_000015.10:g.90804171A>G	TOPMed
BLM	P54132	p.Phe1189Ter	RCV000672249	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804174_90804175del	ClinVar
BLM	P54132	p.Met1190Ter	RCV000704332	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804177delinsAA	ClinVar
BLM	P54132	p.Met1190Val	rs764005828	missense variant	-	NC_000015.10:g.90804176A>G	ExAC,gnomAD
BLM	P54132	p.Met1190Thr	rs1555424373	missense variant	-	NC_000015.10:g.90804177T>C	-
BLM	P54132	p.Met1190Thr	RCV000571162	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804177T>C	ClinVar
BLM	P54132	p.Met1190Thr	RCV000628663	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804177T>C	ClinVar
BLM	P54132	p.Glu1193Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90804185G>C	NCI-TCGA
BLM	P54132	p.Asn1194His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90804188A>C	NCI-TCGA
BLM	P54132	p.Ser1195Thr	rs1426895981	missense variant	-	NC_000015.10:g.90804191T>A	gnomAD
BLM	P54132	p.Ser1197Ter	RCV000666859	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804197del	ClinVar
BLM	P54132	p.Val1198Met	RCV000563035	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804200G>A	ClinVar
BLM	P54132	p.Val1198Met	rs142928725	missense variant	-	NC_000015.10:g.90804200G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Val1198Met	RCV000471443	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804200G>A	ClinVar
BLM	P54132	p.Val1198Met	RCV000115308	missense variant	-	NC_000015.10:g.90804200G>A	ClinVar
BLM	P54132	p.Ala1203Val	RCV000575453	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804216C>T	ClinVar
BLM	P54132	p.Ala1203Pro	rs1335563585	missense variant	-	NC_000015.10:g.90804215G>C	TOPMed
BLM	P54132	p.Ala1203Val	rs757088548	missense variant	-	NC_000015.10:g.90804216C>T	ExAC,gnomAD
BLM	P54132	p.Ala1203Val	RCV000686959	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804216C>T	ClinVar
BLM	P54132	p.Leu1204Phe	rs1231990786	missense variant	-	NC_000015.10:g.90804220A>T	TOPMed
BLM	P54132	p.Val1205Ile	rs28385141	missense variant	-	NC_000015.10:g.90804221G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Val1205Ile	RCV000226406	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804221G>A	ClinVar
BLM	P54132	p.Ala1206Glu	rs1319362226	missense variant	-	NC_000015.10:g.90804225C>A	TOPMed
BLM	P54132	p.Ser1209Thr	RCV000564629	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804233T>A	ClinVar
BLM	P54132	p.Ser1209Thr	rs1801256	missense variant	-	NC_000015.10:g.90804233T>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Gln1210His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90804238G>C	NCI-TCGA
BLM	P54132	p.Glu1213Lys	rs28385142	missense variant	-	NC_000015.10:g.90804245G>A	TOPMed,gnomAD
BLM	P54132	p.Glu1213Lys	RCV000569262	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804245G>A	ClinVar
BLM	P54132	p.Glu1213Lys	RCV000727387	missense variant	-	NC_000015.10:g.90804245G>A	ClinVar
BLM	P54132	p.Glu1213Ter	RCV000412256	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804246del	ClinVar
BLM	P54132	p.Met1214Ile	rs377253486	missense variant	-	NC_000015.10:g.90804250G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Met1214Ile	RCV000628672	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804250G>A	ClinVar
BLM	P54132	p.Val1215Phe	rs1025108238	missense variant	-	NC_000015.10:g.90804251G>T	TOPMed
BLM	P54132	p.Lys1216Arg	rs748798772	missense variant	-	NC_000015.10:g.90804255A>G	ExAC,gnomAD
BLM	P54132	p.Lys1217Asn	rs587779887	missense variant	-	NC_000015.10:g.90804259A>T	ExAC
BLM	P54132	p.Lys1217Asn	RCV000115310	missense variant	-	NC_000015.10:g.90804259A>T	ClinVar
BLM	P54132	p.Lys1217Asn	RCV000700971	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804259A>T	ClinVar
BLM	P54132	p.Lys1217AsnPheSerTerUnkUnk	COSM1375449	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.90804254A>-	NCI-TCGA Cosmic
BLM	P54132	p.Leu1219Val	rs960821931	missense variant	-	NC_000015.10:g.90804263C>G	TOPMed,gnomAD
BLM	P54132	p.Gly1220Arg	RCV000688281	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804266G>A	ClinVar
BLM	P54132	p.Gly1220ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90804264_90804265insACCTTTA	NCI-TCGA
BLM	P54132	p.Thr1223Arg	rs772506214	missense variant	-	NC_000015.10:g.90804276C>G	ExAC,gnomAD
BLM	P54132	p.Thr1223Ter	RCV000410178	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804275dup	ClinVar
BLM	P54132	p.Glu1224Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.90804278G>T	NCI-TCGA
BLM	P54132	p.Leu1229Val	rs1555424395	missense variant	-	NC_000015.10:g.90804293C>G	-
BLM	P54132	p.Leu1229Val	RCV000628671	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804293C>G	ClinVar
BLM	P54132	p.Lys1231Ter	RCV000670866	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90804300_90804301del	ClinVar
BLM	P54132	p.Phe1233Ile	rs1260166264	missense variant	-	NC_000015.10:g.90804305T>A	gnomAD
BLM	P54132	p.Thr1243Ile	RCV000569151	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90804336C>T	ClinVar
BLM	P54132	p.Thr1243Ile	rs972145772	missense variant	-	NC_000015.10:g.90804336C>T	TOPMed
BLM	P54132	p.Val1244Ile	rs1249106324	missense variant	-	NC_000015.10:g.90804338G>A	gnomAD
BLM	P54132	p.Val1244Gly	rs771117920	missense variant	-	NC_000015.10:g.90804339T>G	ExAC,gnomAD
BLM	P54132	p.Thr1245Ser	rs1555424403	missense variant	-	NC_000015.10:g.90804341A>T	-
BLM	P54132	p.Thr1245Ser	RCV000545255	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804341A>T	ClinVar
BLM	P54132	p.Lys1248Met	rs1555424404	missense variant	-	NC_000015.10:g.90804351A>T	-
BLM	P54132	p.Lys1248Met	RCV000555534	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90804351A>T	ClinVar
BLM	P54132	p.Leu1249Phe	rs1250193368	missense variant	-	NC_000015.10:g.90804353C>T	gnomAD
BLM	P54132	p.Glu1251Ter	RCV000670350	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90809138del	ClinVar
BLM	P54132	p.Glu1251Gln	rs587779888	missense variant	-	NC_000015.10:g.90804359G>C	ExAC,gnomAD
BLM	P54132	p.Glu1251Gln	RCV000115312	missense variant	-	NC_000015.10:g.90804359G>C	ClinVar
BLM	P54132	p.Ser1252Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90809140C>T	NCI-TCGA
BLM	P54132	p.Ser1252Tyr	COSM3420718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90809140C>A	NCI-TCGA Cosmic
BLM	P54132	p.Leu1253Val	rs1249288071	missense variant	-	NC_000015.10:g.90809142T>G	gnomAD
BLM	P54132	p.Ser1254Ala	rs781396294	missense variant	-	NC_000015.10:g.90809145T>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp1256Glu	COSM3505423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90809153T>G	NCI-TCGA Cosmic
BLM	P54132	p.Pro1257Ala	rs144964365	missense variant	-	NC_000015.10:g.90809154C>G	ESP
BLM	P54132	p.Pro1257Ser	rs144964365	missense variant	-	NC_000015.10:g.90809154C>T	ESP
BLM	P54132	p.Pro1257Leu	rs372134818	missense variant	-	NC_000015.10:g.90809155C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu1258Ala	rs1369324978	missense variant	-	NC_000015.10:g.90809158A>C	TOPMed
BLM	P54132	p.Glu1258Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90809159G>T	NCI-TCGA
BLM	P54132	p.Glu1258Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90809157G>A	NCI-TCGA
BLM	P54132	p.Val1259Ala	rs769895470	missense variant	-	NC_000015.10:g.90809161T>C	ExAC,gnomAD
BLM	P54132	p.Leu1261Phe	RCV000692408	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809166C>T	ClinVar
BLM	P54132	p.Ala1276Glu	rs760554566	missense variant	-	NC_000015.10:g.90809212C>A	ExAC,gnomAD
BLM	P54132	p.Ala1276Val	rs760554566	missense variant	-	NC_000015.10:g.90809212C>T	ExAC,gnomAD
BLM	P54132	p.Ala1276Val	RCV000570830	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90809212C>T	ClinVar
BLM	P54132	p.Ala1276Val	RCV000224500	missense variant	-	NC_000015.10:g.90809212C>T	ClinVar
BLM	P54132	p.Ala1276Glu	RCV000324132	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809212C>A	ClinVar
BLM	P54132	p.Ala1276Thr	RCV000704807	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809211G>A	ClinVar
BLM	P54132	p.Val1278Met	rs753563391	missense variant	-	NC_000015.10:g.90809217G>A	ExAC,gnomAD
BLM	P54132	p.Ile1279Val	COSM69826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90809220A>G	NCI-TCGA Cosmic
BLM	P54132	p.Ser1280Leu	COSM434546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90809224C>T	NCI-TCGA Cosmic
BLM	P54132	p.Val1281Leu	rs1018540956	missense variant	-	NC_000015.10:g.90809226G>C	TOPMed
BLM	P54132	p.Gln1283Ter	rs367543031	stop gained	-	NC_000015.10:g.90809232C>T	gnomAD
BLM	P54132	p.Gln1283Ter	RCV000034915	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90809232C>T	ClinVar
BLM	P54132	p.Tyr1285Ter	rs1057516728	stop gained	-	NC_000015.10:g.90809240C>A	TOPMed
BLM	P54132	p.Tyr1285Ter	RCV000409908	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90809240C>A	ClinVar
BLM	P54132	p.Ser1286Tyr	rs1423327905	missense variant	-	NC_000015.10:g.90809242C>A	TOPMed
BLM	P54132	p.Thr1289Ser	rs1060500645	missense variant	-	NC_000015.10:g.90809250A>T	-
BLM	P54132	p.Thr1289Ser	RCV000467518	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809250A>T	ClinVar
BLM	P54132	p.Ser1290Leu	rs1031421025	missense variant	-	NC_000015.10:g.90809254C>T	TOPMed,gnomAD
BLM	P54132	p.Ser1290Leu	RCV000534742	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809254C>T	ClinVar
BLM	P54132	p.Pro1291Thr	rs1234718913	missense variant	-	NC_000015.10:g.90809256C>A	TOPMed
BLM	P54132	p.Pro1291Arg	rs373003917	missense variant	-	NC_000015.10:g.90809257C>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro1291Leu	RCV000628654	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90809257C>T	ClinVar
BLM	P54132	p.Pro1291Leu	rs373003917	missense variant	-	NC_000015.10:g.90809257C>T	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala1292Thr	rs757641454	missense variant	-	NC_000015.10:g.90809259G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala1292Asp	RCV000701067	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811205C>A	ClinVar
BLM	P54132	p.Glu1293Gly	rs746979958	missense variant	-	NC_000015.10:g.90811208A>G	ExAC,TOPMed,gnomAD
BLM	P54132	p.Asp1294His	rs560132774	missense variant	-	NC_000015.10:g.90811210G>C	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Ser1295Gly	rs1344988437	missense variant	-	NC_000015.10:g.90811213A>G	gnomAD
BLM	P54132	p.Pro1297Ter	RCV000670228	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811220del	ClinVar
BLM	P54132	p.Gly1298Arg	rs587779889	missense variant	-	NC_000015.10:g.90811222G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly1298Arg	RCV000561783	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90811222G>A	ClinVar
BLM	P54132	p.Ser1300Arg	rs769564626	missense variant	-	NC_000015.10:g.90811230C>G	ExAC,gnomAD
BLM	P54132	p.Leu1301Ter	RCV000671125	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811231del	ClinVar
BLM	P54132	p.Ser1304Asn	rs763554007	missense variant	-	NC_000015.10:g.90811241G>A	ExAC
BLM	P54132	p.Gly1306Ter	RCV000675024	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811247del	ClinVar
BLM	P54132	p.Pro1307Ser	rs773830810	missense variant	-	NC_000015.10:g.90811249C>T	ExAC,gnomAD
BLM	P54132	p.Gly1308Arg	RCV000628625	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811252G>A	ClinVar
BLM	P54132	p.Gly1308Glu	RCV000456520	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811253G>A	ClinVar
BLM	P54132	p.Gly1308Arg	rs768010078	missense variant	-	NC_000015.10:g.90811252G>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly1308Arg	rs768010078	missense variant	-	NC_000015.10:g.90811252G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Gly1308Glu	rs750865930	missense variant	-	NC_000015.10:g.90811253G>A	ExAC,gnomAD
BLM	P54132	p.Gly1308ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.90811252_90811279GGAAGAAGTGCCGCTGAGGAGCTCGACG>-	NCI-TCGA
BLM	P54132	p.Arg1309Thr	rs1280067298	missense variant	-	NC_000015.10:g.90811256G>C	gnomAD
BLM	P54132	p.Arg1309Thr	RCV000693843	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811256G>C	ClinVar
BLM	P54132	p.Ser1310Arg	RCV000265527	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811260T>G	ClinVar
BLM	P54132	p.Ser1310Arg	rs886051552	missense variant	-	NC_000015.10:g.90811260T>G	gnomAD
BLM	P54132	p.Ala1312Thr	rs527291754	missense variant	-	NC_000015.10:g.90811264G>A	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala1312Thr	RCV000559638	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811264G>A	ClinVar
BLM	P54132	p.Ala1312Thr	RCV000115314	missense variant	-	NC_000015.10:g.90811264G>A	ClinVar
BLM	P54132	p.Glu1313Ter	RCV000664850	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90811267G>T	ClinVar
BLM	P54132	p.Glu1313Ala	rs754033839	missense variant	-	NC_000015.10:g.90811268A>C	ExAC,gnomAD
BLM	P54132	p.Glu1313Ter	rs1555425074	stop gained	-	NC_000015.10:g.90811267G>T	-
BLM	P54132	p.Glu1313Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90811269G>T	NCI-TCGA
BLM	P54132	p.Leu1315Phe	rs959925706	missense variant	-	NC_000015.10:g.90811273C>T	gnomAD
BLM	P54132	p.Leu1315Pro	rs1271612269	missense variant	-	NC_000015.10:g.90811274T>C	TOPMed
BLM	P54132	p.Leu1315Pro	RCV000695601	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811274_90811275delinsCT	ClinVar
BLM	P54132	p.Asp1316Asn	rs779179608	missense variant	-	NC_000015.10:g.90811276G>A	ExAC,gnomAD
BLM	P54132	p.Asp1316Glu	rs375896520	missense variant	-	NC_000015.10:g.90811278C>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu1317Lys	rs730880251	missense variant	-	NC_000015.10:g.90811279G>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Glu1317Lys	RCV000157586	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811279G>A	ClinVar
BLM	P54132	p.Glu1317Lys	RCV000561536	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90811279G>A	ClinVar
BLM	P54132	p.Ile1319Ter	RCV000669899	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811286del	ClinVar
BLM	P54132	p.Pro1320Ser	COSM3817064	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811288C>T	NCI-TCGA Cosmic
BLM	P54132	p.Val1321Ile	rs7167216	missense variant	-	NC_000015.10:g.90811291G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Val1321Ile	RCV000281046	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811291G>A	ClinVar
BLM	P54132	p.Val1321Ter	RCV000684874	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811290dup	ClinVar
BLM	P54132	p.Ser1322Phe	rs1362006078	missense variant	-	NC_000015.10:g.90811295C>T	gnomAD
BLM	P54132	p.Ser1323Pro	rs1439192800	missense variant	-	NC_000015.10:g.90811297T>C	gnomAD
BLM	P54132	p.Ser1323Phe	rs1276145488	missense variant	-	NC_000015.10:g.90811298C>T	gnomAD
BLM	P54132	p.His1324Tyr	RCV000708669	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90811300C>T	ClinVar
BLM	P54132	p.His1324Tyr	rs748943489	missense variant	-	NC_000015.10:g.90811300C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.His1324Tyr	RCV000548110	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811300C>T	ClinVar
BLM	P54132	p.Phe1326Ile	RCV000526229	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811306T>A	ClinVar
BLM	P54132	p.Phe1326Ile	rs1222912167	missense variant	-	NC_000015.10:g.90811306T>A	TOPMed,gnomAD
BLM	P54132	p.Ser1328Asn	rs1330693236	missense variant	-	NC_000015.10:g.90811313G>A	gnomAD
BLM	P54132	p.Lys1329Glu	rs190652985	missense variant	-	NC_000015.10:g.90811315A>G	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr1330Pro	rs1173538137	missense variant	-	NC_000015.10:g.90811318A>C	TOPMed
BLM	P54132	p.Arg1331Gly	RCV000115315	missense variant	-	NC_000015.10:g.90811321A>G	ClinVar
BLM	P54132	p.Arg1331Lys	RCV000471638	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811322G>A	ClinVar
BLM	P54132	p.Arg1331Gly	rs150631940	missense variant	-	NC_000015.10:g.90811321A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg1331Gly	RCV000536540	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811321A>G	ClinVar
BLM	P54132	p.Arg1331Lys	rs1060500648	missense variant	-	NC_000015.10:g.90811322G>A	-
BLM	P54132	p.Arg1334Ter	RCV000412153	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811330_90811334del	ClinVar
BLM	P54132	p.Lys1338Asn	COSM1375451	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811344G>T	NCI-TCGA Cosmic
BLM	P54132	p.Met1339Thr	rs761320085	missense variant	-	NC_000015.10:g.90811346T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Met1339Ile	rs1247422719	missense variant	-	NC_000015.10:g.90811347G>C	TOPMed,gnomAD
BLM	P54132	p.Met1339Ile	rs1247422719	missense variant	-	NC_000015.10:g.90811347G>A	TOPMed,gnomAD
BLM	P54132	p.Pro1340Leu	rs766959130	missense variant	-	NC_000015.10:g.90811349C>T	ExAC,gnomAD
BLM	P54132	p.Pro1340Leu	RCV000525035	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811349C>T	ClinVar
BLM	P54132	p.Pro1340Ser	COSM966555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811348C>T	NCI-TCGA Cosmic
BLM	P54132	p.Pro1340Thr	COSM4057913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811348C>A	NCI-TCGA Cosmic
BLM	P54132	p.Ala1341Val	rs201149857	missense variant	-	NC_000015.10:g.90811352C>T	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ala1341Val	RCV000628645	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811352C>T	ClinVar
BLM	P54132	p.Ser1342Phe	rs761200006	missense variant	-	NC_000015.10:g.90811355C>T	ExAC,gnomAD
BLM	P54132	p.Arg1344Trp	rs754205010	missense variant	-	NC_000015.10:g.90811360A>T	ExAC,gnomAD
BLM	P54132	p.Arg1347Ter	RCV000669071	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90811369_90811378del	ClinVar
BLM	P54132	p.Arg1347Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90811370G>A	NCI-TCGA
BLM	P54132	p.Ser1352Phe	COSM434547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90811385C>T	NCI-TCGA Cosmic
BLM	P54132	p.Ser1353Arg	rs1060500646	missense variant	-	NC_000015.10:g.90811389T>A	TOPMed,gnomAD
BLM	P54132	p.Ser1353Arg	RCV000472912	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811389T>A	ClinVar
BLM	P54132	p.Gly1354Ser	rs1210439019	missense variant	-	NC_000015.10:g.90811390G>A	TOPMed
BLM	P54132	p.Gly1354Ala	rs891751726	missense variant	-	NC_000015.10:g.90811391G>C	TOPMed,gnomAD
BLM	P54132	p.Gly1354Ala	RCV000473259	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90811391G>C	ClinVar
BLM	P54132	p.Gly1354Cys	rs1210439019	missense variant	-	NC_000015.10:g.90811390G>T	TOPMed
BLM	P54132	p.Lys1356Arg	RCV000568146	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90811397A>G	ClinVar
BLM	P54132	p.Lys1356Arg	rs945181516	missense variant	-	NC_000015.10:g.90811397A>G	TOPMed,gnomAD
BLM	P54132	p.Lys1356Asn	RCV000115317	missense variant	-	NC_000015.10:g.90811398G>C	ClinVar
BLM	P54132	p.Lys1356Asn	rs587779890	missense variant	-	NC_000015.10:g.90811398G>C	TOPMed
BLM	P54132	p.Ala1357Pro	rs587778103	missense variant	-	NC_000015.10:g.90811399G>C	-
BLM	P54132	p.Ala1357Pro	RCV000120233	missense variant	-	NC_000015.10:g.90811399G>C	ClinVar
BLM	P54132	p.Gly1359Glu	rs1308799871	missense variant	-	NC_000015.10:g.90811406G>A	TOPMed
BLM	P54132	p.Gly1360Val	rs1258712808	missense variant	-	NC_000015.10:g.90815104G>T	TOPMed
BLM	P54132	p.Thr1363Ile	rs1060500649	missense variant	-	NC_000015.10:g.90815113C>T	TOPMed
BLM	P54132	p.Thr1363Ile	RCV000456940	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815113C>T	ClinVar
BLM	P54132	p.Arg1365Lys	rs753011288	missense variant	-	NC_000015.10:g.90815119G>A	ExAC,gnomAD
BLM	P54132	p.Arg1365Gly	rs759982203	missense variant	-	NC_000015.10:g.90815118A>G	ExAC,gnomAD
BLM	P54132	p.Arg1365Gly	RCV000700117	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815118A>G	ClinVar
BLM	P54132	p.Arg1365Gly	RCV000571956	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90815118A>G	ClinVar
BLM	P54132	p.Lys1366Asn	rs752989757	missense variant	-	NC_000015.10:g.90815123G>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys1366Asn	rs752989757	missense variant	-	NC_000015.10:g.90815123G>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ile1367Val	rs912021682	missense variant	-	NC_000015.10:g.90815124A>G	TOPMed
BLM	P54132	p.Ser1368Pro	rs587778104	missense variant	-	NC_000015.10:g.90815127T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser1368Phe	rs1330629127	missense variant	-	NC_000015.10:g.90815128C>T	TOPMed
BLM	P54132	p.Ser1368Thr	rs587778104	missense variant	-	NC_000015.10:g.90815127T>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser1368Pro	RCV000806844	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815127T>C	ClinVar
BLM	P54132	p.Lys1370Arg	rs1338721724	missense variant	-	NC_000015.10:g.90815134A>G	gnomAD
BLM	P54132	p.Thr1371Met	rs587779891	missense variant	-	NC_000015.10:g.90815137C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Thr1371Met	RCV000567738	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90815137C>T	ClinVar
BLM	P54132	p.Thr1371Met	RCV000115318	missense variant	-	NC_000015.10:g.90815137C>T	ClinVar
BLM	P54132	p.Thr1371Met	RCV000554495	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815137C>T	ClinVar
BLM	P54132	p.Lys1372Asn	rs753664070	missense variant	-	NC_000015.10:g.90815141A>C	ExAC,gnomAD
BLM	P54132	p.Ser1375Ter	RCV000669066	frameshift	Bloom syndrome (BLM)	NC_000015.10:g.90815148del	ClinVar
BLM	P54132	p.Ser1375Asn	rs139115275	missense variant	-	NC_000015.10:g.90815149G>A	ESP,ExAC,gnomAD
BLM	P54132	p.Ile1376Val	rs587779892	missense variant	-	NC_000015.10:g.90815151A>G	TOPMed,gnomAD
BLM	P54132	p.Ile1376Val	RCV000553041	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815151A>G	ClinVar
BLM	P54132	p.Ile1376Val	RCV000115319	missense variant	-	NC_000015.10:g.90815151A>G	ClinVar
BLM	P54132	p.Ile1377Thr	RCV000531472	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815155T>C	ClinVar
BLM	P54132	p.Ile1377Thr	rs1555425416	missense variant	-	NC_000015.10:g.90815155T>C	-
BLM	P54132	p.Gly1378Ter	rs1555425417	stop gained	-	NC_000015.10:g.90815157G>T	-
BLM	P54132	p.Gly1378Ter	RCV000666358	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90815157G>T	ClinVar
BLM	P54132	p.Ser1380Arg	rs747834576	missense variant	-	NC_000015.10:g.90815165T>G	ExAC,gnomAD
BLM	P54132	p.Ser1380Gly	rs377153391	missense variant	-	NC_000015.10:g.90815163A>G	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser1380Arg	RCV000414956	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815165T>G	ClinVar
BLM	P54132	p.Ala1382Pro	rs771686396	missense variant	-	NC_000015.10:g.90815169G>C	ExAC,gnomAD
BLM	P54132	p.Ser1383Ter	RCV000709372	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90815173C>G	ClinVar
BLM	P54132	p.His1384Arg	rs199592406	missense variant	-	NC_000015.10:g.90815176A>G	1000Genomes,ExAC,gnomAD
BLM	P54132	p.Thr1385Ala	rs1382270916	missense variant	-	NC_000015.10:g.90815178A>G	TOPMed
BLM	P54132	p.Gln1387Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90815184C>G	NCI-TCGA
BLM	P54132	p.Ala1388Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90815187G>A	NCI-TCGA
BLM	P54132	p.Gly1391Ala	rs770278313	missense variant	-	NC_000015.10:g.90815197G>C	ExAC,gnomAD
BLM	P54132	p.Ala1392Val	rs1397394866	missense variant	-	NC_000015.10:g.90815200C>T	TOPMed,gnomAD
BLM	P54132	p.Asn1393Asp	rs548600410	missense variant	-	NC_000015.10:g.90815202A>G	TOPMed,gnomAD
BLM	P54132	p.Leu1396Ter	COSM966559	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.90815212T>A	NCI-TCGA Cosmic
BLM	P54132	p.Met1399Thr	RCV000709373	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815221T>C	ClinVar
BLM	P54132	p.Ala1400Thr	rs370588118	missense variant	-	NC_000015.10:g.90815223G>A	ESP,ExAC,TOPMed,gnomAD
BLM	P54132	p.Pro1402Ala	rs1370764537	missense variant	-	NC_000015.10:g.90815229C>G	TOPMed
BLM	P54132	p.Pro1402Leu	rs770313956	missense variant	-	NC_000015.10:g.90815230C>T	ExAC,TOPMed,gnomAD
BLM	P54132	p.Lys1403Asn	rs1254277623	missense variant	-	NC_000015.10:g.90815234G>T	gnomAD
BLM	P54132	p.Pro1404Ser	RCV000699095	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815235C>T	ClinVar
BLM	P54132	p.Ile1405Thr	rs763323767	missense variant	-	NC_000015.10:g.90815239T>C	ExAC,gnomAD
BLM	P54132	p.Ile1405Lys	rs763323767	missense variant	-	NC_000015.10:g.90815239T>A	ExAC,gnomAD
BLM	P54132	p.Ile1405Thr	RCV000708670	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90815239T>C	ClinVar
BLM	P54132	p.Ile1405Thr	RCV000464369	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815239T>C	ClinVar
BLM	P54132	p.Ile1405Ter	RCV000685063	nonsense	Bloom syndrome (BLM)	NC_000015.10:g.90815241_90815242del	ClinVar
BLM	P54132	p.Arg1407Ser	RCV000696478	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815246A>C	ClinVar
BLM	P54132	p.Arg1407Lys	rs557057587	missense variant	-	NC_000015.10:g.90815245G>A	1000Genomes,ExAC,TOPMed,gnomAD
BLM	P54132	p.Arg1407Lys	RCV000543803	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815245G>A	ClinVar
BLM	P54132	p.Pro1408Arg	rs1022266595	missense variant	-	NC_000015.10:g.90815248C>G	gnomAD
BLM	P54132	p.Pro1408Arg	RCV000554096	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815248C>G	ClinVar
BLM	P54132	p.Pro1408Leu	rs1022266595	missense variant	-	NC_000015.10:g.90815248C>T	gnomAD
BLM	P54132	p.Phe1409Cys	rs761964212	missense variant	-	NC_000015.10:g.90815251T>G	ExAC,gnomAD
BLM	P54132	p.Leu1410Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90815253C>A	NCI-TCGA
BLM	P54132	p.Leu1410Arg	COSM4057915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.90815254T>G	NCI-TCGA Cosmic
BLM	P54132	p.Pro1412Ser	rs1249221595	missense variant	-	NC_000015.10:g.90815259C>T	gnomAD
BLM	P54132	p.Ser1413Pro	rs767443059	missense variant	-	NC_000015.10:g.90815262T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser1413Thr	rs767443059	missense variant	-	NC_000015.10:g.90815262T>A	ExAC,TOPMed,gnomAD
BLM	P54132	p.Ser1413Leu	rs1225968082	missense variant	-	NC_000015.10:g.90815263C>T	gnomAD
BLM	P54132	p.Tyr1414His	rs753800694	missense variant	-	NC_000015.10:g.90815265T>C	ExAC,TOPMed,gnomAD
BLM	P54132	p.Tyr1414His	RCV000532261	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815265T>C	ClinVar
BLM	P54132	p.Tyr1414His	RCV000571399	missense variant	Hereditary cancer-predisposing syndrome	NC_000015.10:g.90815265T>C	ClinVar
BLM	P54132	p.Phe1416Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.90815273C>A	NCI-TCGA
BLM	P54132	p.Phe1416Leu	RCV000686450	missense variant	Bloom syndrome (BLM)	NC_000015.10:g.90815273C>G	ClinVar
BLM	P54132	p.Ter1418Lys	RCV000665192	stop lost	Bloom syndrome (BLM)	NC_000015.10:g.90815277T>A	ClinVar
BLM	P54132	p.Ter1418Lys	rs1555425441	stop lost	-	NC_000015.10:g.90815277T>A	-
RAD23B	P54727	p.Thr4Ile	rs1182543787	missense variant	-	NC_000009.12:g.107283640C>T	gnomAD
RAD23B	P54727	p.Leu5Val	rs758392805	missense variant	-	NC_000009.12:g.107283642C>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Thr7Asn	rs1174873515	missense variant	-	NC_000009.12:g.107283649C>A	TOPMed,gnomAD
RAD23B	P54727	p.Thr7Ile	rs1174873515	missense variant	-	NC_000009.12:g.107283649C>T	TOPMed,gnomAD
RAD23B	P54727	p.Leu8Val	rs1465390576	missense variant	-	NC_000009.12:g.107283651C>G	gnomAD
RAD23B	P54727	p.Gln11Arg	rs1264249597	missense variant	-	NC_000009.12:g.107283661A>G	TOPMed
RAD23B	P54727	p.Thr12Ile	rs1329772380	missense variant	-	NC_000009.12:g.107283664C>T	gnomAD
RAD23B	P54727	p.Phe13Leu	rs755530025	missense variant	-	NC_000009.12:g.107283668C>A	ExAC,gnomAD
RAD23B	P54727	p.Lys14Met	rs781683465	missense variant	-	NC_000009.12:g.107283670A>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Lys14Arg	rs781683465	missense variant	-	NC_000009.12:g.107283670A>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Lys14Thr	rs781683465	missense variant	-	NC_000009.12:g.107283670A>C	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ile15Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107283672A>G	NCI-TCGA
RAD23B	P54727	p.Asp16Asn	rs1230946595	missense variant	-	NC_000009.12:g.107283675G>A	gnomAD
RAD23B	P54727	p.Asp16Glu	rs868532415	missense variant	-	NC_000009.12:g.107283677C>A	TOPMed,gnomAD
RAD23B	P54727	p.Asp16Ala	rs1264871577	missense variant	-	NC_000009.12:g.107283676A>C	gnomAD
RAD23B	P54727	p.Ile17Val	rs748424653	missense variant	-	NC_000009.12:g.107283678A>G	ExAC,gnomAD
RAD23B	P54727	p.Asp18Gly	rs1481733080	missense variant	-	NC_000009.12:g.107283682A>G	TOPMed,gnomAD
RAD23B	P54727	p.Glu20Lys	rs922886223	missense variant	-	NC_000009.12:g.107283687G>A	TOPMed,gnomAD
RAD23B	P54727	p.Lys24Arg	rs771718228	missense variant	-	NC_000009.12:g.107300145A>G	ExAC,gnomAD
RAD23B	P54727	p.Glu33Gly	rs1409602868	missense variant	-	NC_000009.12:g.107300172A>G	gnomAD
RAD23B	P54727	p.Lys34Arg	rs760729054	missense variant	-	NC_000009.12:g.107300175A>G	ExAC,gnomAD
RAD23B	P54727	p.Lys36Asn	COSM1103632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107300182A>C	NCI-TCGA Cosmic
RAD23B	P54727	p.Asp37Gly	rs1403843166	missense variant	-	NC_000009.12:g.107300184A>G	gnomAD
RAD23B	P54727	p.Ala38Gly	rs1244948800	missense variant	-	NC_000009.12:g.107300187C>G	TOPMed
RAD23B	P54727	p.Val41Leu	rs768301757	missense variant	-	NC_000009.12:g.107300195G>C	ExAC,gnomAD
RAD23B	P54727	p.Lys45AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.107300205A>-	NCI-TCGA
RAD23B	P54727	p.Tyr48Phe	rs776541236	missense variant	-	NC_000009.12:g.107300217A>T	ExAC,gnomAD
RAD23B	P54727	p.Tyr48Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107300217A>G	NCI-TCGA
RAD23B	P54727	p.Ala49Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107300219G>A	NCI-TCGA
RAD23B	P54727	p.Asn54Ser	rs781760113	missense variant	-	NC_000009.12:g.107302047A>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Asn54His	rs1389288527	missense variant	-	NC_000009.12:g.107302046A>C	gnomAD
RAD23B	P54727	p.Asp56Gly	rs201722512	missense variant	-	NC_000009.12:g.107302053A>G	1000Genomes,ExAC,gnomAD
RAD23B	P54727	p.Thr57Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107302055A>G	NCI-TCGA
RAD23B	P54727	p.Ala58Pro	rs1161721301	missense variant	-	NC_000009.12:g.107302058G>C	gnomAD
RAD23B	P54727	p.Leu59Val	rs757678716	missense variant	-	NC_000009.12:g.107302061C>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Glu61Ter	COSM1222994	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.107302067G>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Glu61Asp	rs765760139	missense variant	-	NC_000009.12:g.107302069A>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Asp65Val	rs1298067283	missense variant	-	NC_000009.12:g.107302080A>T	gnomAD
RAD23B	P54727	p.Asn68ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.107302085A>-	NCI-TCGA
RAD23B	P54727	p.Val80Leu	rs1346689700	missense variant	-	NC_000009.12:g.107306388G>T	TOPMed
RAD23B	P54727	p.Val80Gly	rs376878974	missense variant	-	NC_000009.12:g.107306389T>G	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Thr82Lys	rs765992287	missense variant	-	NC_000009.12:g.107306395C>A	ExAC,gnomAD
RAD23B	P54727	p.Thr87Ala	rs1348422706	missense variant	-	NC_000009.12:g.107306409A>G	TOPMed,gnomAD
RAD23B	P54727	p.Ser91Leu	rs754501431	missense variant	-	NC_000009.12:g.107306422C>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ala92Pro	rs1441579574	missense variant	-	NC_000009.12:g.107306424G>C	gnomAD
RAD23B	P54727	p.Ser95Asn	rs1181533322	missense variant	-	NC_000009.12:g.107306434G>A	gnomAD
RAD23B	P54727	p.Thr96Ile	rs780635159	missense variant	-	NC_000009.12:g.107306437C>T	ExAC,gnomAD
RAD23B	P54727	p.Ala98Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107306442G>T	NCI-TCGA
RAD23B	P54727	p.Ser102Pro	rs79639067	missense variant	-	NC_000009.12:g.107306454T>C	ESP,ExAC,TOPMed
RAD23B	P54727	p.Ser102Ala	rs79639067	missense variant	-	NC_000009.12:g.107306454T>G	ESP,ExAC,TOPMed
RAD23B	P54727	p.Thr103Ile	rs749014621	missense variant	-	NC_000009.12:g.107306458C>T	ExAC,gnomAD
RAD23B	P54727	p.Thr105Ile	rs1159712312	missense variant	-	NC_000009.12:g.107306464C>T	gnomAD
RAD23B	P54727	p.Thr106Ala	rs780308925	missense variant	-	NC_000009.12:g.107306466A>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Val107Met	rs747257394	missense variant	-	NC_000009.12:g.107306469G>A	ExAC,gnomAD
RAD23B	P54727	p.Ala108Ser	rs1339139628	missense variant	-	NC_000009.12:g.107306472G>T	gnomAD
RAD23B	P54727	p.Ala108Gly	rs1407780373	missense variant	-	NC_000009.12:g.107306473C>G	gnomAD
RAD23B	P54727	p.Gln109Ter	COSM4853535	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.107306475C>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Pro111Ser	rs950956301	missense variant	-	NC_000009.12:g.107306481C>T	TOPMed,gnomAD
RAD23B	P54727	p.Pro111Ala	rs950956301	missense variant	-	NC_000009.12:g.107306481C>G	TOPMed,gnomAD
RAD23B	P54727	p.Thr112Asn	rs776897206	missense variant	-	NC_000009.12:g.107306485C>A	ExAC,gnomAD
RAD23B	P54727	p.Thr112Ala	rs1207439891	missense variant	-	NC_000009.12:g.107306484A>G	TOPMed
RAD23B	P54727	p.Pro113His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107306488C>A	NCI-TCGA
RAD23B	P54727	p.Pro113Ser	rs1280004247	missense variant	-	NC_000009.12:g.107306487C>T	gnomAD
RAD23B	P54727	p.Pro113Arg	rs763010277	missense variant	-	NC_000009.12:g.107306488C>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Pro113Leu	rs763010277	missense variant	-	NC_000009.12:g.107306488C>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Pro115His	COSM1459176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107306494C>A	NCI-TCGA Cosmic
RAD23B	P54727	p.Ala116Ser	rs917424064	missense variant	-	NC_000009.12:g.107306496G>T	TOPMed,gnomAD
RAD23B	P54727	p.Ala116Val	rs773862253	missense variant	-	NC_000009.12:g.107306497C>T	ExAC,gnomAD
RAD23B	P54727	p.Leu117Ser	rs1461920343	missense variant	-	NC_000009.12:g.107306500T>C	TOPMed,gnomAD
RAD23B	P54727	p.Pro119His	rs55815226	missense variant	-	NC_000009.12:g.107306506C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Pro119Arg	rs55815226	missense variant	-	NC_000009.12:g.107306506C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Pro119Ser	rs1248493574	missense variant	-	NC_000009.12:g.107306505C>T	TOPMed,gnomAD
RAD23B	P54727	p.Thr120Ala	rs1434356414	missense variant	-	NC_000009.12:g.107306508A>G	TOPMed
RAD23B	P54727	p.Thr122Ile	rs759152448	missense variant	-	NC_000009.12:g.107306515C>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Thr122Ala	rs751220555	missense variant	-	NC_000009.12:g.107306514A>G	ExAC,gnomAD
RAD23B	P54727	p.Ala124Glu	COSM6114465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107306521C>A	NCI-TCGA Cosmic
RAD23B	P54727	p.Ala124Val	rs111972101	missense variant	-	NC_000009.12:g.107306521C>T	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ser125Pro	rs755623960	missense variant	-	NC_000009.12:g.107306523T>C	ExAC,gnomAD
RAD23B	P54727	p.Ile126Asn	rs1469987484	missense variant	-	NC_000009.12:g.107306527T>A	gnomAD
RAD23B	P54727	p.Ile126Leu	rs1375952090	missense variant	-	NC_000009.12:g.107306526A>C	TOPMed
RAD23B	P54727	p.Pro128Ser	rs777629375	missense variant	-	NC_000009.12:g.107306532C>T	ExAC,gnomAD
RAD23B	P54727	p.Ala129Val	rs753831088	missense variant	-	NC_000009.12:g.107306536C>T	ExAC,gnomAD
RAD23B	P54727	p.Ala131Val	rs200509488	missense variant	-	NC_000009.12:g.107306542C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Thr132Ala	rs1422182733	missense variant	-	NC_000009.12:g.107306544A>G	TOPMed
RAD23B	P54727	p.Thr132Ile	rs747228381	missense variant	-	NC_000009.12:g.107306545C>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ala138Gly	rs548841376	missense variant	-	NC_000009.12:g.107306563C>G	1000Genomes,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ala138Val	rs548841376	missense variant	-	NC_000009.12:g.107306563C>T	1000Genomes,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ala140Thr	rs773845845	missense variant	-	NC_000009.12:g.107306568G>A	ExAC,gnomAD
RAD23B	P54727	p.Ser141Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107306571A>T	NCI-TCGA
RAD23B	P54727	p.Ser141Asn	rs141800980	missense variant	-	NC_000009.12:g.107306572G>A	ESP,TOPMed,gnomAD
RAD23B	P54727	p.Ala142Ser	rs1481759589	missense variant	-	NC_000009.12:g.107306574G>T	gnomAD
RAD23B	P54727	p.Ala143Ser	rs749832557	missense variant	-	NC_000009.12:g.107306577G>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ala143Thr	rs749832557	missense variant	-	NC_000009.12:g.107306577G>A	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Lys144Gln	rs374011602	missense variant	-	NC_000009.12:g.107306580A>C	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Lys144Glu	rs374011602	missense variant	-	NC_000009.12:g.107306580A>G	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Gln145Arg	rs1202306409	missense variant	-	NC_000009.12:g.107306584A>G	gnomAD
RAD23B	P54727	p.Lys147Asn	rs767087752	missense variant	-	NC_000009.12:g.107306591G>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Pro148Ser	rs1159305210	missense variant	-	NC_000009.12:g.107306592C>T	TOPMed,gnomAD
RAD23B	P54727	p.Pro148Arg	rs1428226150	missense variant	-	NC_000009.12:g.107306593C>G	TOPMed,gnomAD
RAD23B	P54727	p.Pro148Leu	rs1428226150	missense variant	-	NC_000009.12:g.107306593C>T	TOPMed,gnomAD
RAD23B	P54727	p.Ala149Thr	rs775135855	missense variant	-	NC_000009.12:g.107306595G>A	ExAC,gnomAD
RAD23B	P54727	p.Glu150Lys	COSM4836899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107306598G>A	NCI-TCGA Cosmic
RAD23B	P54727	p.Lys151Glu	rs760163367	missense variant	-	NC_000009.12:g.107306601A>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Pro152Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107306604C>G	NCI-TCGA
RAD23B	P54727	p.Ala153Gly	rs1459302950	missense variant	-	NC_000009.12:g.107306608C>G	gnomAD
RAD23B	P54727	p.Glu154Gln	rs138257027	missense variant	-	NC_000009.12:g.107306610G>C	ESP,ExAC,gnomAD
RAD23B	P54727	p.Thr155Ile	rs376087685	missense variant	-	NC_000009.12:g.107306614C>T	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Pro156Ala	rs765239059	missense variant	-	NC_000009.12:g.107306616C>G	ExAC,gnomAD
RAD23B	P54727	p.Pro156Leu	rs750142843	missense variant	-	NC_000009.12:g.107306617C>T	ExAC,gnomAD
RAD23B	P54727	p.Pro156Ser	COSM1103635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107306616C>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Val157Leu	rs758219436	missense variant	-	NC_000009.12:g.107306619G>C	ExAC,gnomAD
RAD23B	P54727	p.Thr159Asn	rs1293204156	missense variant	-	NC_000009.12:g.107306626C>A	gnomAD
RAD23B	P54727	p.Pro161Leu	rs1039142546	missense variant	-	NC_000009.12:g.107306632C>T	TOPMed
RAD23B	P54727	p.Pro161Ser	rs781509755	missense variant	-	NC_000009.12:g.107306631C>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Thr162Lys	rs748443238	missense variant	-	NC_000009.12:g.107306635C>A	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Thr162Ala	rs1228476488	missense variant	-	NC_000009.12:g.107306634A>G	gnomAD
RAD23B	P54727	p.Thr164Ala	rs1224829968	missense variant	-	NC_000009.12:g.107306640A>G	TOPMed,gnomAD
RAD23B	P54727	p.Asp165Asn	rs1386224950	missense variant	-	NC_000009.12:g.107306643G>A	TOPMed
RAD23B	P54727	p.Thr167Ile	rs1478993300	missense variant	-	NC_000009.12:g.107311684C>T	TOPMed
RAD23B	P54727	p.Ser168Leu	rs189555517	missense variant	-	NC_000009.12:g.107311687C>T	1000Genomes,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Gly169Val	rs763025606	missense variant	-	NC_000009.12:g.107311690G>T	ExAC,gnomAD
RAD23B	P54727	p.Asp170Asn	rs1443425269	missense variant	-	NC_000009.12:g.107311692G>A	TOPMed
RAD23B	P54727	p.Asp170Gly	rs766258521	missense variant	-	NC_000009.12:g.107311693A>G	ExAC,gnomAD
RAD23B	P54727	p.Ser171Cys	rs759438239	missense variant	-	NC_000009.12:g.107311696C>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Arg173Trp	rs764157337	missense variant	-	NC_000009.12:g.107311701C>T	ExAC,gnomAD
RAD23B	P54727	p.Ser174Thr	rs1174975812	missense variant	-	NC_000009.12:g.107311704T>A	gnomAD
RAD23B	P54727	p.Asn175Asp	rs754145429	missense variant	-	NC_000009.12:g.107311707A>G	ExAC,gnomAD
RAD23B	P54727	p.Thr181Ala	COSM6182118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107311725A>G	NCI-TCGA Cosmic
RAD23B	P54727	p.Thr181Met	rs1035806432	missense variant	-	NC_000009.12:g.107311726C>T	gnomAD
RAD23B	P54727	p.Thr186Met	rs1490827120	missense variant	-	NC_000009.12:g.107318755C>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Thr186Met	rs1490827120	missense variant	-	NC_000009.12:g.107318755C>T	TOPMed,gnomAD
RAD23B	P54727	p.Ser189Tyr	COSM3925855	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107318764C>A	NCI-TCGA Cosmic
RAD23B	P54727	p.Glu191Lys	rs558671424	missense variant	-	NC_000009.12:g.107318769G>A	1000Genomes,ExAC,gnomAD
RAD23B	P54727	p.Thr195Ile	COSM76155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107318782C>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Glu196Lys	COSM3847282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107318784G>A	NCI-TCGA Cosmic
RAD23B	P54727	p.Met198Leu	rs368633787	missense variant	-	NC_000009.12:g.107318790A>T	ESP,ExAC,gnomAD
RAD23B	P54727	p.Met198Val	rs368633787	missense variant	-	NC_000009.12:g.107318790A>G	ESP,ExAC,gnomAD
RAD23B	P54727	p.Ser199Leu	rs752120411	missense variant	-	NC_000009.12:g.107318794C>T	ExAC,gnomAD
RAD23B	P54727	p.Met200Val	rs755295616	missense variant	-	NC_000009.12:g.107318796A>G	ExAC,gnomAD
RAD23B	P54727	p.Met200Leu	rs755295616	missense variant	-	NC_000009.12:g.107318796A>T	ExAC,gnomAD
RAD23B	P54727	p.Arg204Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.107318808C>T	NCI-TCGA
RAD23B	P54727	p.Arg204Gln	rs747733273	missense variant	-	NC_000009.12:g.107318809G>A	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Glu205Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.107318811G>T	NCI-TCGA
RAD23B	P54727	p.Val207Ala	rs1406504932	missense variant	-	NC_000009.12:g.107318818T>C	gnomAD
RAD23B	P54727	p.Ile208Met	rs1318073143	missense variant	-	NC_000009.12:g.107318822T>G	gnomAD
RAD23B	P54727	p.Ala209Ser	rs755747068	missense variant	-	NC_000009.12:g.107318823G>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ala210Val	COSM267305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107318827C>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Leu211Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107318829C>A	NCI-TCGA
RAD23B	P54727	p.Leu211Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107318830T>C	NCI-TCGA
RAD23B	P54727	p.Ala213Thr	rs1355110072	missense variant	-	NC_000009.12:g.107318835G>A	TOPMed
RAD23B	P54727	p.Asn217Ser	COSM3902834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107318848A>G	NCI-TCGA Cosmic
RAD23B	P54727	p.Pro218Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107318850C>G	NCI-TCGA
RAD23B	P54727	p.Tyr224Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107318869A>C	NCI-TCGA
RAD23B	P54727	p.Tyr224His	rs201643333	missense variant	-	NC_000009.12:g.107318868T>C	1000Genomes
RAD23B	P54727	p.Leu226Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107318875T>C	NCI-TCGA
RAD23B	P54727	p.Met227Val	rs576814919	missense variant	-	NC_000009.12:g.107318877A>G	1000Genomes
RAD23B	P54727	p.Gly228Arg	rs756793941	missense variant	-	NC_000009.12:g.107321983G>A	ExAC,gnomAD
RAD23B	P54727	p.Gly231Glu	rs1012270808	missense variant	-	NC_000009.12:g.107321993G>A	TOPMed
RAD23B	P54727	p.Arg233Ser	rs1362516465	missense variant	-	NC_000009.12:g.107322000A>T	gnomAD
RAD23B	P54727	p.Arg233Thr	rs1051208451	missense variant	-	NC_000009.12:g.107321999G>C	TOPMed,gnomAD
RAD23B	P54727	p.Arg233Lys	rs1051208451	missense variant	-	NC_000009.12:g.107321999G>A	TOPMed,gnomAD
RAD23B	P54727	p.Glu234Asp	rs377517847	missense variant	-	NC_000009.12:g.107322003A>T	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Gln236Lys	rs1160326564	missense variant	-	NC_000009.12:g.107322007C>A	gnomAD
RAD23B	P54727	p.Ala237Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107322011C>T	NCI-TCGA
RAD23B	P54727	p.Ala237Thr	rs1429107999	missense variant	-	NC_000009.12:g.107322010G>A	gnomAD
RAD23B	P54727	p.Val239Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107322016G>A	NCI-TCGA
RAD23B	P54727	p.Pro241Arg	rs146092388	missense variant	-	NC_000009.12:g.107322023C>G	ESP,ExAC,TOPMed
RAD23B	P54727	p.Pro241Ser	rs768496304	missense variant	-	NC_000009.12:g.107322022C>T	ExAC,gnomAD
RAD23B	P54727	p.Pro242Ala	rs759569833	missense variant	-	NC_000009.12:g.107322025C>G	ExAC,gnomAD
RAD23B	P54727	p.Pro242Ser	rs759569833	missense variant	-	NC_000009.12:g.107322025C>T	ExAC,gnomAD
RAD23B	P54727	p.Pro242His	rs1411623808	missense variant	-	NC_000009.12:g.107322026C>A	gnomAD
RAD23B	P54727	p.Gln243Ter	COSM3413227	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.107322028C>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Ala245Val	rs1322498116	missense variant	-	NC_000009.12:g.107322035C>T	TOPMed,gnomAD
RAD23B	P54727	p.Ser246Thr	rs1221472751	missense variant	-	NC_000009.12:g.107322038G>C	gnomAD
RAD23B	P54727	p.Ser246Gly	rs1423546846	missense variant	-	NC_000009.12:g.107322037A>G	gnomAD
RAD23B	P54727	p.Thr247Ala	rs1257943170	missense variant	-	NC_000009.12:g.107322040A>G	gnomAD
RAD23B	P54727	p.Ala249Val	rs1805329	missense variant	-	NC_000009.12:g.107322047C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ala249Val	rs1805329	missense variant	-	NC_000009.12:g.107322047C>T	UniProt,dbSNP
RAD23B	P54727	p.Ala249Val	VAR_014350	missense variant	-	NC_000009.12:g.107322047C>T	UniProt
RAD23B	P54727	p.Pro250Ser	rs149794634	missense variant	-	NC_000009.12:g.107322049C>T	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ser252Cys	rs1484321441	missense variant	-	NC_000009.12:g.107322056C>G	gnomAD
RAD23B	P54727	p.Ala257Thr	rs144801847	missense variant	-	NC_000009.12:g.107322070G>A	ESP,ExAC,gnomAD
RAD23B	P54727	p.Ala257Gly	rs756916777	missense variant	-	NC_000009.12:g.107322071C>G	ExAC,gnomAD
RAD23B	P54727	p.Ala259Thr	rs148559163	missense variant	-	NC_000009.12:g.107322076G>A	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ala260Thr	rs1195024005	missense variant	-	NC_000009.12:g.107322079G>A	TOPMed
RAD23B	P54727	p.Thr261Ala	rs201887317	missense variant	-	NC_000009.12:g.107322082A>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Thr262Met	rs372514872	missense variant	-	NC_000009.12:g.107322086C>T	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Thr262Ala	rs780025783	missense variant	-	NC_000009.12:g.107322085A>G	ExAC,gnomAD
RAD23B	P54727	p.Thr263Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107322089C>T	NCI-TCGA
RAD23B	P54727	p.Thr263Ala	rs1308492422	missense variant	-	NC_000009.12:g.107322088A>G	gnomAD
RAD23B	P54727	p.Ala264Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107322092C>T	NCI-TCGA
RAD23B	P54727	p.Thr265Ala	rs747959796	missense variant	-	NC_000009.12:g.107322094A>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Thr265Arg	rs985132401	missense variant	-	NC_000009.12:g.107322095C>G	TOPMed,gnomAD
RAD23B	P54727	p.Thr265Ile	rs985132401	missense variant	-	NC_000009.12:g.107322095C>T	TOPMed,gnomAD
RAD23B	P54727	p.Thr269Arg	rs56157506	missense variant	-	NC_000009.12:g.107322107C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ser271Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107322113C>A	NCI-TCGA
RAD23B	P54727	p.Ser271Phe	rs776063038	missense variant	-	NC_000009.12:g.107322113C>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.His274Tyr	rs1421977074	missense variant	-	NC_000009.12:g.107323892C>T	gnomAD
RAD23B	P54727	p.Pro275Leu	COSM3652681	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107323896C>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Pro275Ser	rs1166756938	missense variant	-	NC_000009.12:g.107323895C>T	gnomAD
RAD23B	P54727	p.Arg280Trp	rs144174357	missense variant	-	NC_000009.12:g.107323910C>T	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Gln284Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107323922C>G	NCI-TCGA
RAD23B	P54727	p.Met288Ile	rs1340466231	missense variant	-	NC_000009.12:g.107323936G>A	TOPMed
RAD23B	P54727	p.Arg289Lys	COSM455109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107323938G>A	NCI-TCGA Cosmic
RAD23B	P54727	p.Gln290His	rs1294499471	missense variant	-	NC_000009.12:g.107323942A>T	TOPMed
RAD23B	P54727	p.Ile291Val	rs760865069	missense variant	-	NC_000009.12:g.107323943A>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Ile292Thr	rs1436136403	missense variant	-	NC_000009.12:g.107323947T>C	gnomAD
RAD23B	P54727	p.Gln293Arg	rs769215825	missense variant	-	NC_000009.12:g.107323950A>G	ExAC,gnomAD
RAD23B	P54727	p.Pro296Leu	COSM3652682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107323959C>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Ser297Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107323962C>T	NCI-TCGA
RAD23B	P54727	p.Ala301Val	rs777289896	missense variant	-	NC_000009.12:g.107323974C>T	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Gln305His	COSM3779515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107323987G>C	NCI-TCGA Cosmic
RAD23B	P54727	p.Ile306Met	rs1391588245	missense variant	-	NC_000009.12:g.107323990A>G	gnomAD
RAD23B	P54727	p.Arg308Gln	rs140228782	missense variant	-	NC_000009.12:g.107323995G>A	ESP,ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Arg308Ter	rs1167069133	stop gained	-	NC_000009.12:g.107323994C>T	TOPMed
RAD23B	P54727	p.Glu309Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107323999G>T	NCI-TCGA
RAD23B	P54727	p.Gln312Glu	COSM3847283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107324006C>G	NCI-TCGA Cosmic
RAD23B	P54727	p.Gln315Glu	rs767388236	missense variant	-	NC_000009.12:g.107324015C>G	ExAC,gnomAD
RAD23B	P54727	p.Gln316His	rs1179993104	missense variant	-	NC_000009.12:g.107324836A>C	gnomAD
RAD23B	P54727	p.Ser318Gly	rs1253902557	missense variant	-	NC_000009.12:g.107324840A>G	gnomAD
RAD23B	P54727	p.Gln319Arg	rs1284381289	missense variant	-	NC_000009.12:g.107324844A>G	TOPMed,gnomAD
RAD23B	P54727	p.His323Asp	rs755952661	missense variant	-	NC_000009.12:g.107324855C>G	ExAC,gnomAD
RAD23B	P54727	p.His323Tyr	rs755952661	missense variant	-	NC_000009.12:g.107324855C>T	ExAC,gnomAD
RAD23B	P54727	p.Gln326His	rs1477360038	missense variant	-	NC_000009.12:g.107324866G>C	TOPMed
RAD23B	P54727	p.Gly336Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107324895G>T	NCI-TCGA
RAD23B	P54727	p.Gly337Ser	rs757084565	missense variant	-	NC_000009.12:g.107324897G>A	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Gly337Ala	rs1427920102	missense variant	-	NC_000009.12:g.107324898G>C	gnomAD
RAD23B	P54727	p.Gly339Ala	COSM4822540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107324904G>C	NCI-TCGA Cosmic
RAD23B	P54727	p.Gly339Glu	rs1351678324	missense variant	-	NC_000009.12:g.107324904G>A	gnomAD
RAD23B	P54727	p.Gly341Ter	rs780125343	stop gained	-	NC_000009.12:g.107324909G>T	ExAC,gnomAD
RAD23B	P54727	p.Gly341Glu	rs1040382251	missense variant	-	NC_000009.12:g.107324910G>A	TOPMed
RAD23B	P54727	p.Gly343Glu	rs755075731	missense variant	-	NC_000009.12:g.107324916G>A	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Gly343Arg	rs1365012593	missense variant	-	NC_000009.12:g.107324915G>A	gnomAD
RAD23B	P54727	p.Gly344Asp	rs781468979	missense variant	-	NC_000009.12:g.107324919G>A	ExAC,gnomAD
RAD23B	P54727	p.Gly345Asp	COSM3432744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107324922G>A	NCI-TCGA Cosmic
RAD23B	P54727	p.Ile349Thr	rs770162049	missense variant	-	NC_000009.12:g.107324934T>C	ExAC,gnomAD
RAD23B	P54727	p.Ile349Val	rs748261610	missense variant	-	NC_000009.12:g.107324933A>G	ExAC,TOPMed,gnomAD
RAD23B	P54727	p.Glu351Gly	rs1483371594	missense variant	-	NC_000009.12:g.107324940A>G	gnomAD
RAD23B	P54727	p.Ala352Ser	COSM1103638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107324942G>T	NCI-TCGA Cosmic
RAD23B	P54727	p.Ala352Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107324942G>A	NCI-TCGA
RAD23B	P54727	p.Ser354Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107324950T>G	NCI-TCGA
RAD23B	P54727	p.Ser354Asn	rs773774956	missense variant	-	NC_000009.12:g.107324949G>A	ExAC,gnomAD
RAD23B	P54727	p.Gly355Val	rs1244831507	missense variant	-	NC_000009.12:g.107324952G>T	gnomAD
RAD23B	P54727	p.His356Arg	rs749558086	missense variant	-	NC_000009.12:g.107324955A>G	ExAC,gnomAD
RAD23B	P54727	p.Gln361Glu	rs1419081449	missense variant	-	NC_000009.12:g.107324969C>G	gnomAD
RAD23B	P54727	p.Pro364Ala	rs773992502	missense variant	-	NC_000009.12:g.107324978C>G	ExAC,gnomAD
RAD23B	P54727	p.Gln365Ter	rs201813616	stop gained	-	NC_000009.12:g.107324981C>T	1000Genomes
RAD23B	P54727	p.Glu366Ala	rs1170587715	missense variant	-	NC_000009.12:g.107324985A>C	gnomAD
RAD23B	P54727	p.Glu371Asp	rs1468474780	missense variant	-	NC_000009.12:g.107325001A>C	gnomAD
RAD23B	P54727	p.Ala375Pro	rs768029751	missense variant	-	NC_000009.12:g.107329549G>C	ExAC,gnomAD
RAD23B	P54727	p.Gly377Arg	COSM1222993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107329555G>A	NCI-TCGA Cosmic
RAD23B	P54727	p.Val383Ala	COSM1103639	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107329574T>C	NCI-TCGA Cosmic
RAD23B	P54727	p.Ala386Val	rs1184982125	missense variant	-	NC_000009.12:g.107329583C>T	TOPMed
RAD23B	P54727	p.Tyr387His	COSM1103640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107329585T>C	NCI-TCGA Cosmic
RAD23B	P54727	p.Glu394Lys	COSM3847284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.107329606G>A	NCI-TCGA Cosmic
RAD23B	P54727	p.Ala398Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107329618G>A	NCI-TCGA
RAD23B	P54727	p.Leu401Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107329627C>T	NCI-TCGA
RAD23B	P54727	p.Leu402Ile	rs1270526977	missense variant	-	NC_000009.12:g.107329630C>A	gnomAD
RAD23B	P54727	p.Asn405Lys	rs769787918	missense variant	-	NC_000009.12:g.107329641C>G	ExAC,gnomAD
RAD23B	P54727	p.Asp407Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.107329645G>A	NCI-TCGA
RAD23B	P54727	p.Ter410LeuGluUnkThrTerUnkUnk	NCI-TCGA novel	stop lost	-	NC_000009.12:g.107329655G>T	NCI-TCGA
EPHB3	P54753	p.Arg3Ser	rs1467550827	missense variant	-	NC_000003.12:g.184562244A>C	TOPMed,gnomAD
EPHB3	P54753	p.Arg5His	rs1164820191	missense variant	-	NC_000003.12:g.184562249G>A	TOPMed,gnomAD
EPHB3	P54753	p.Pro6Leu	rs930603848	missense variant	-	NC_000003.12:g.184562252C>T	TOPMed,gnomAD
EPHB3	P54753	p.Pro7Leu	rs1454392123	missense variant	-	NC_000003.12:g.184562255C>T	TOPMed
EPHB3	P54753	p.Pro8Leu	rs1400881855	missense variant	-	NC_000003.12:g.184562258C>T	TOPMed
EPHB3	P54753	p.Ser11Pro	rs760420980	missense variant	-	NC_000003.12:g.184562266T>C	ExAC,TOPMed
EPHB3	P54753	p.Ser11Leu	rs1324171275	missense variant	-	NC_000003.12:g.184562267C>T	TOPMed,gnomAD
EPHB3	P54753	p.Ser11Ter	rs1324171275	stop gained	-	NC_000003.12:g.184562267C>A	TOPMed,gnomAD
EPHB3	P54753	p.Pro12Leu	rs1402465049	missense variant	-	NC_000003.12:g.184562270C>T	TOPMed,gnomAD
EPHB3	P54753	p.Leu16Arg	rs376974166	missense variant	-	NC_000003.12:g.184562282T>G	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Leu16Pro	rs376974166	missense variant	-	NC_000003.12:g.184562282T>C	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro21Ser	rs1490254791	missense variant	-	NC_000003.12:g.184562296C>T	gnomAD
EPHB3	P54753	p.Leu23Val	rs1356133376	missense variant	-	NC_000003.12:g.184562302C>G	gnomAD
EPHB3	P54753	p.Leu28Pro	rs1429789406	missense variant	-	NC_000003.12:g.184562318T>C	gnomAD
EPHB3	P54753	p.Ala33Thr	rs1363161312	missense variant	-	NC_000003.12:g.184562332G>A	gnomAD
EPHB3	P54753	p.Gly34Ser	rs1385124373	missense variant	-	NC_000003.12:g.184562335G>A	TOPMed
EPHB3	P54753	p.Cys35Trp	rs570761224	missense variant	-	NC_000003.12:g.184562340C>G	gnomAD
EPHB3	P54753	p.Arg36Gln	rs776518476	missense variant	-	NC_000003.12:g.184562342G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg36Pro	rs776518476	missense variant	-	NC_000003.12:g.184562342G>C	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg36Trp	rs1417292568	missense variant	-	NC_000003.12:g.184562341C>T	gnomAD
EPHB3	P54753	p.Ala37Val	rs1240594736	missense variant	-	NC_000003.12:g.184562345C>T	TOPMed
EPHB3	P54753	p.Ala37Gly	rs1240594736	missense variant	-	NC_000003.12:g.184562345C>G	TOPMed
EPHB3	P54753	p.Glu39Gln	rs1220327412	missense variant	-	NC_000003.12:g.184562350G>C	TOPMed
EPHB3	P54753	p.Thr41Asn	rs1443864241	missense variant	-	NC_000003.12:g.184571321C>A	gnomAD
EPHB3	P54753	p.Thr49Ala	rs1415275697	missense variant	-	NC_000003.12:g.184571344A>G	TOPMed,gnomAD
EPHB3	P54753	p.Ser50Thr	rs369718915	missense variant	-	NC_000003.12:g.184571347T>A	gnomAD
EPHB3	P54753	p.Glu51Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184571350G>C	NCI-TCGA
EPHB3	P54753	p.Ala53Ser	rs1456787514	missense variant	-	NC_000003.12:g.184571356G>T	TOPMed
EPHB3	P54753	p.Ala53Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184571357C>T	NCI-TCGA
EPHB3	P54753	p.Ala53Glu	rs1237986709	missense variant	-	NC_000003.12:g.184571357C>A	TOPMed
EPHB3	P54753	p.Thr55Ala	rs1467499500	missense variant	-	NC_000003.12:g.184571362A>G	gnomAD
EPHB3	P54753	p.Thr55Pro	rs1467499500	missense variant	-	NC_000003.12:g.184571362A>C	gnomAD
EPHB3	P54753	p.Thr55Ile	rs183760285	missense variant	-	NC_000003.12:g.184571363C>T	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Pro58Leu	COSM3590807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184571372C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Glu59Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184571374G>A	NCI-TCGA
EPHB3	P54753	p.Ser60Asn	rs200523648	missense variant	-	NC_000003.12:g.184571378G>A	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Val65Met	rs1219793158	missense variant	-	NC_000003.12:g.184572513G>A	gnomAD
EPHB3	P54753	p.Tyr68Ter	rs747856336	stop gained	-	NC_000003.12:g.184572524C>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp69Asn	rs1171159383	missense variant	-	NC_000003.12:g.184572525G>A	TOPMed
EPHB3	P54753	p.Ala71Ser	rs142960558	missense variant	-	NC_000003.12:g.184572531G>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Met72Val	rs1489084532	missense variant	-	NC_000003.12:g.184572534A>G	gnomAD
EPHB3	P54753	p.Met72Leu	rs1489084532	missense variant	-	NC_000003.12:g.184572534A>T	gnomAD
EPHB3	P54753	p.Pro74His	COSM117012	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572541C>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg76Cys	rs762788708	missense variant	-	NC_000003.12:g.184572546C>T	ExAC,gnomAD
EPHB3	P54753	p.Arg76His	rs770916588	missense variant	-	NC_000003.12:g.184572547G>A	ExAC,gnomAD
EPHB3	P54753	p.Arg84Cys	rs1302758661	missense variant	-	NC_000003.12:g.184572570C>T	gnomAD
EPHB3	P54753	p.Arg84His	rs373498027	missense variant	-	NC_000003.12:g.184572571G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu85Gln	rs144873693	missense variant	-	NC_000003.12:g.184572573G>C	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu85Lys	rs144873693	missense variant	-	NC_000003.12:g.184572573G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser87Gly	rs766763901	missense variant	-	NC_000003.12:g.184572579A>G	ExAC,TOPMed
EPHB3	P54753	p.Ser87Thr	rs752066516	missense variant	-	NC_000003.12:g.184572580G>C	ExAC,gnomAD
EPHB3	P54753	p.Arg93Cys	COSM1042086	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572597C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg93His	rs755491313	missense variant	-	NC_000003.12:g.184572598G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr94Met	COSM1205517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572601C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Gly95Ala	rs747621686	missense variant	-	NC_000003.12:g.184572604G>C	ExAC
EPHB3	P54753	p.Ile97Val	rs1241015168	missense variant	-	NC_000003.12:g.184572609A>G	TOPMed
EPHB3	P54753	p.Trp98GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184572611_184572639CTGGCGGCGGGATGTGCAGCGGGTCTACG>-	NCI-TCGA
EPHB3	P54753	p.Arg99Trp	rs777512461	missense variant	-	NC_000003.12:g.184572615C>T	ExAC,gnomAD
EPHB3	P54753	p.Arg100Gln	rs376603901	missense variant	-	NC_000003.12:g.184572619G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg100Trp	rs141682247	missense variant	-	NC_000003.12:g.184572618C>T	ESP,ExAC,gnomAD
EPHB3	P54753	p.Asp101Asn	rs915979381	missense variant	-	NC_000003.12:g.184572621G>A	TOPMed
EPHB3	P54753	p.Val102Leu	rs1201476030	missense variant	-	NC_000003.12:g.184572624G>C	gnomAD
EPHB3	P54753	p.Gln103Arg	rs774182718	missense variant	-	NC_000003.12:g.184572628A>G	ExAC,gnomAD
EPHB3	P54753	p.Arg104Gln	rs772010344	missense variant	-	NC_000003.12:g.184572631G>A	ExAC,gnomAD
EPHB3	P54753	p.Arg104Trp	rs745841437	missense variant	-	NC_000003.12:g.184572630C>T	ExAC,gnomAD
EPHB3	P54753	p.Arg104Leu	rs772010344	missense variant	-	NC_000003.12:g.184572631G>T	ExAC,gnomAD
EPHB3	P54753	p.Tyr106Asp	rs776719941	missense variant	-	NC_000003.12:g.184572636T>G	ExAC,gnomAD
EPHB3	P54753	p.Val107Leu	rs761829006	missense variant	-	NC_000003.12:g.184572639G>C	ExAC,gnomAD
EPHB3	P54753	p.Val107Met	rs761829006	missense variant	-	NC_000003.12:g.184572639G>A	ExAC,gnomAD
EPHB3	P54753	p.Lys110Arg	rs1325313342	missense variant	-	NC_000003.12:g.184572649A>G	gnomAD
EPHB3	P54753	p.Lys110Glu	rs1310681804	missense variant	-	NC_000003.12:g.184572648A>G	TOPMed
EPHB3	P54753	p.Val113Ala	rs1309867845	missense variant	-	NC_000003.12:g.184572658T>C	gnomAD
EPHB3	P54753	p.Val113Met	rs1441448893	missense variant	-	NC_000003.12:g.184572657G>A	gnomAD
EPHB3	P54753	p.Arg114His	COSM4115803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572661G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg114Pro	rs751926113	missense variant	-	NC_000003.12:g.184572661G>C	ExAC,gnomAD
EPHB3	P54753	p.Arg114Cys	rs1243140106	missense variant	-	NC_000003.12:g.184572660C>T	TOPMed,gnomAD
EPHB3	P54753	p.Arg114Ser	rs1243140106	missense variant	-	NC_000003.12:g.184572660C>A	TOPMed,gnomAD
EPHB3	P54753	p.Cys116Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184572666T>A	NCI-TCGA
EPHB3	P54753	p.Ser118Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184572673G>T	NCI-TCGA
EPHB3	P54753	p.Pro120Ser	rs755471082	missense variant	-	NC_000003.12:g.184572678C>T	ExAC,gnomAD
EPHB3	P54753	p.Ile122Phe	rs908381311	missense variant	-	NC_000003.12:g.184572684A>T	TOPMed
EPHB3	P54753	p.Ile122Thr	rs1211227977	missense variant	-	NC_000003.12:g.184572685T>C	gnomAD
EPHB3	P54753	p.Ser125Pro	rs777415226	missense variant	-	NC_000003.12:g.184572693T>C	ExAC,gnomAD
EPHB3	P54753	p.Thr129Asn	rs749005451	missense variant	-	NC_000003.12:g.184572706C>A	ExAC,gnomAD
EPHB3	P54753	p.Phe130Leu	rs1473920369	missense variant	-	NC_000003.12:g.184572708T>C	gnomAD
EPHB3	P54753	p.Ala137Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184572730C>G	NCI-TCGA
EPHB3	P54753	p.Ser139Gly	rs1331709573	missense variant	-	NC_000003.12:g.184572735A>G	gnomAD
EPHB3	P54753	p.Asp140Asn	rs771921950	missense variant	-	NC_000003.12:g.184572738G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser143Thr	rs779906102	missense variant	-	NC_000003.12:g.184572747T>A	ExAC,gnomAD
EPHB3	P54753	p.Ser146Pro	rs769922257	missense variant	-	NC_000003.12:g.184572756T>C	ExAC,gnomAD
EPHB3	P54753	p.Pro147His	rs773256225	missense variant	-	NC_000003.12:g.184572760C>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro147Arg	rs773256225	missense variant	-	NC_000003.12:g.184572760C>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Trp149Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184572767G>T	NCI-TCGA
EPHB3	P54753	p.Met150Leu	rs150396958	missense variant	-	NC_000003.12:g.184572768A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu151Gly	rs1199670978	missense variant	-	NC_000003.12:g.184572772A>G	gnomAD
EPHB3	P54753	p.Asn152Lys	rs1260332028	missense variant	-	NC_000003.12:g.184572776C>A	TOPMed,gnomAD
EPHB3	P54753	p.Asn152Ser	rs1052769868	missense variant	-	NC_000003.12:g.184572775A>G	TOPMed
EPHB3	P54753	p.Pro153His	rs768143669	missense variant	-	NC_000003.12:g.184572778C>A	ExAC,gnomAD
EPHB3	P54753	p.Tyr154Cys	rs1034934013	missense variant	-	NC_000003.12:g.184572781A>G	TOPMed
EPHB3	P54753	p.Tyr154Ter	rs530601246	stop gained	-	NC_000003.12:g.184572782C>G	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val155Leu	rs761249780	missense variant	-	NC_000003.12:g.184572783G>T	ExAC,gnomAD
EPHB3	P54753	p.Val155Met	rs761249780	missense variant	-	NC_000003.12:g.184572783G>A	ExAC,gnomAD
EPHB3	P54753	p.Val157Ter	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184572782_184572783insGTGAA	NCI-TCGA
EPHB3	P54753	p.Val157Met	rs1425615630	missense variant	-	NC_000003.12:g.184572789G>A	gnomAD
EPHB3	P54753	p.Pro162Ser	rs753356805	missense variant	-	NC_000003.12:g.184572804C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp163Asn	rs1394989797	missense variant	-	NC_000003.12:g.184572807G>A	gnomAD
EPHB3	P54753	p.Arg168Gln	rs145171419	missense variant	-	NC_000003.12:g.184572823G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg168Trp	rs374662963	missense variant	-	NC_000003.12:g.184572822C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg168Leu	VAR_042176	Missense	-	-	UniProt
EPHB3	P54753	p.Leu169Pro	rs768554029	missense variant	-	NC_000003.12:g.184572826T>C	ExAC,gnomAD
EPHB3	P54753	p.Ala171Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184572832C>T	NCI-TCGA
EPHB3	P54753	p.Gly172Ser	rs149143236	missense variant	-	NC_000003.12:g.184572834G>A	ESP,ExAC,gnomAD
EPHB3	P54753	p.Arg173Cys	rs1315526756	missense variant	-	NC_000003.12:g.184572837C>T	TOPMed,gnomAD
EPHB3	P54753	p.Arg173His	rs1325504589	missense variant	-	NC_000003.12:g.184572838G>A	gnomAD
EPHB3	P54753	p.Thr176Ile	rs771073306	missense variant	-	NC_000003.12:g.184572847C>T	ExAC,gnomAD
EPHB3	P54753	p.Thr176Ala	rs1161002948	missense variant	-	NC_000003.12:g.184572846A>G	gnomAD
EPHB3	P54753	p.Val178Met	rs1321825879	missense variant	-	NC_000003.12:g.184572852G>A	gnomAD
EPHB3	P54753	p.Arg179Leu	COSM6097133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572856G>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg179Cys	rs376915139	missense variant	-	NC_000003.12:g.184572855C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg179Ser	rs376915139	missense variant	-	NC_000003.12:g.184572855C>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg179His	rs1257091260	missense variant	-	NC_000003.12:g.184572856G>A	gnomAD
EPHB3	P54753	p.Ser180Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184572859G>A	NCI-TCGA
EPHB3	P54753	p.Pro183Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184572867C>A	NCI-TCGA
EPHB3	P54753	p.Leu184Val	rs1484485077	missense variant	-	NC_000003.12:g.184572870C>G	gnomAD
EPHB3	P54753	p.Ala187Ser	rs759675909	missense variant	-	NC_000003.12:g.184572879G>T	ExAC,gnomAD
EPHB3	P54753	p.Leu191Pro	rs772620531	missense variant	-	NC_000003.12:g.184572892T>C	ExAC,gnomAD
EPHB3	P54753	p.Ala192Thr	COSM1042089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572894G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Asp195Asn	rs1479327666	missense variant	-	NC_000003.12:g.184572903G>A	gnomAD
EPHB3	P54753	p.Gly197Cys	rs1270981122	missense variant	-	NC_000003.12:g.184572909G>T	TOPMed
EPHB3	P54753	p.Ala198Thr	rs371321162	missense variant	-	NC_000003.12:g.184572912G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser201Leu	rs1453510930	missense variant	-	NC_000003.12:g.184572922C>T	gnomAD
EPHB3	P54753	p.Leu202Ile	rs764652577	missense variant	-	NC_000003.12:g.184572924C>A	ExAC,gnomAD
EPHB3	P54753	p.Val205Met	rs267599717	missense variant	-	NC_000003.12:g.184572933G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg206Ser	rs1325345728	missense variant	-	NC_000003.12:g.184572936C>A	TOPMed
EPHB3	P54753	p.Arg206His	rs1344093500	missense variant	-	NC_000003.12:g.184572937G>A	TOPMed,gnomAD
EPHB3	P54753	p.Ala207Thr	rs758025687	missense variant	-	NC_000003.12:g.184572939G>A	ExAC,gnomAD
EPHB3	P54753	p.Cys212Ser	rs1314485177	missense variant	-	NC_000003.12:g.184572954T>A	gnomAD
EPHB3	P54753	p.Thr215Ile	rs1260263685	missense variant	-	NC_000003.12:g.184572964C>T	gnomAD
EPHB3	P54753	p.Thr216Ala	rs779865356	missense variant	-	NC_000003.12:g.184572966A>G	ExAC,gnomAD
EPHB3	P54753	p.Ala217Thr	rs187877110	missense variant	-	NC_000003.12:g.184572969G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala217Ser	rs187877110	missense variant	-	NC_000003.12:g.184572969G>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gly218Val	COSM4913751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572973G>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Ala220Thr	COSM1743275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184572978G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Ala220Ser	rs1190422204	missense variant	-	NC_000003.12:g.184572978G>T	TOPMed,gnomAD
EPHB3	P54753	p.Leu221Phe	rs1053717016	missense variant	-	NC_000003.12:g.184572981C>T	gnomAD
EPHB3	P54753	p.Leu221Val	rs1053717016	missense variant	-	NC_000003.12:g.184572981C>G	gnomAD
EPHB3	P54753	p.Phe222Leu	rs577684335	missense variant	-	NC_000003.12:g.184572986C>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro223Ser	rs757427786	missense variant	-	NC_000003.12:g.184572987C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro223Thr	rs757427786	missense variant	-	NC_000003.12:g.184572987C>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu224Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184572991A>G	NCI-TCGA
EPHB3	P54753	p.Glu224Lys	rs772389628	missense variant	-	NC_000003.12:g.184572990G>A	ExAC,gnomAD
EPHB3	P54753	p.Leu226Arg	rs776024993	missense variant	-	NC_000003.12:g.184572997T>G	ExAC,gnomAD
EPHB3	P54753	p.Leu226Val	rs1288096728	missense variant	-	NC_000003.12:g.184572996C>G	gnomAD
EPHB3	P54753	p.Thr227Ala	rs1363340143	missense variant	-	NC_000003.12:g.184572999A>G	gnomAD
EPHB3	P54753	p.Ala229Val	rs1457050797	missense variant	-	NC_000003.12:g.184573006C>T	gnomAD
EPHB3	P54753	p.Pro238Ser	rs1377834133	missense variant	-	NC_000003.12:g.184573032C>T	gnomAD
EPHB3	P54753	p.Thr240Ile	rs762220469	missense variant	-	NC_000003.12:g.184573039C>T	ExAC,gnomAD
EPHB3	P54753	p.Thr240Ser	rs762220469	missense variant	-	NC_000003.12:g.184573039C>G	ExAC,gnomAD
EPHB3	P54753	p.Ala245Ser	rs772566853	missense variant	-	NC_000003.12:g.184573053G>T	ExAC,gnomAD
EPHB3	P54753	p.Val246Met	rs765968450	missense variant	-	NC_000003.12:g.184573056G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu247Asp	COSM1042091	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184573061G>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Glu247Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.184573059G>T	NCI-TCGA
EPHB3	P54753	p.Glu247Lys	rs1489331903	missense variant	-	NC_000003.12:g.184573059G>A	gnomAD
EPHB3	P54753	p.Ser249Leu	rs1194071164	missense variant	-	NC_000003.12:g.184573066C>T	gnomAD
EPHB3	P54753	p.Tyr255His	rs1382805863	missense variant	-	NC_000003.12:g.184573083T>C	TOPMed,gnomAD
EPHB3	P54753	p.Gly258Ser	rs752741261	missense variant	-	NC_000003.12:g.184573092G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp259Gly	COSM1421388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184573096A>G	NCI-TCGA Cosmic
EPHB3	P54753	p.Asp259Asn	rs1460787359	missense variant	-	NC_000003.12:g.184573095G>A	TOPMed,gnomAD
EPHB3	P54753	p.Asp259Tyr	rs1460787359	missense variant	-	NC_000003.12:g.184573095G>T	TOPMed,gnomAD
EPHB3	P54753	p.Val264Gly	rs745899529	missense variant	-	NC_000003.12:g.184573111T>G	ExAC,gnomAD
EPHB3	P54753	p.Pro265Ala	rs758712318	missense variant	-	NC_000003.12:g.184573113C>G	ExAC,gnomAD
EPHB3	P54753	p.Val266Ala	rs780365062	missense variant	-	NC_000003.12:g.184573117T>C	ExAC,gnomAD
EPHB3	P54753	p.Val266Gly	rs780365062	missense variant	-	NC_000003.12:g.184573117T>G	ExAC,gnomAD
EPHB3	P54753	p.Val266Met	rs1313052497	missense variant	-	NC_000003.12:g.184573116G>A	gnomAD
EPHB3	P54753	p.Ala272Thr	rs1305914728	missense variant	-	NC_000003.12:g.184573134G>A	gnomAD
EPHB3	P54753	p.Gly274Ser	rs1257133837	missense variant	-	NC_000003.12:g.184573140G>A	gnomAD
EPHB3	P54753	p.His275Tyr	rs770161870	missense variant	-	NC_000003.12:g.184573143C>T	ExAC,gnomAD
EPHB3	P54753	p.Glu276Asp	rs772802555	missense variant	-	NC_000003.12:g.184573148G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu276Lys	rs941073049	missense variant	-	NC_000003.12:g.184573146G>A	TOPMed
EPHB3	P54753	p.Ala279Thr	rs1482637829	missense variant	-	NC_000003.12:g.184573155G>A	gnomAD
EPHB3	P54753	p.Lys280Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184573159A>T	NCI-TCGA
EPHB3	P54753	p.Arg285Cys	rs1381534970	missense variant	-	NC_000003.12:g.184573173C>T	gnomAD
EPHB3	P54753	p.Arg285His	rs759178144	missense variant	-	NC_000003.12:g.184573174G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro286Ser	rs767397230	missense variant	-	NC_000003.12:g.184573176C>T	ExAC,gnomAD
EPHB3	P54753	p.Pro288Ala	rs775374120	missense variant	-	NC_000003.12:g.184575835C>G	ExAC,gnomAD
EPHB3	P54753	p.Pro288Ser	rs775374120	missense variant	-	NC_000003.12:g.184575835C>T	ExAC,gnomAD
EPHB3	P54753	p.Pro288Leu	rs145160947	missense variant	-	NC_000003.12:g.184575836C>T	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Pro288Thr	rs775374120	missense variant	-	NC_000003.12:g.184575835C>A	ExAC,gnomAD
EPHB3	P54753	p.Gly290Glu	rs1272804494	missense variant	-	NC_000003.12:g.184575842G>A	gnomAD
EPHB3	P54753	p.Ser291Asn	rs533462780	missense variant	-	NC_000003.12:g.184575845G>A	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Lys293Arg	rs751651488	missense variant	-	NC_000003.12:g.184575851A>G	ExAC,gnomAD
EPHB3	P54753	p.Ala294Val	rs370076639	missense variant	-	NC_000003.12:g.184575854C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala294Ser	rs1343454160	missense variant	-	NC_000003.12:g.184575853G>T	TOPMed
EPHB3	P54753	p.Lys295Arg	rs753111235	missense variant	-	NC_000003.12:g.184575857A>G	ExAC,gnomAD
EPHB3	P54753	p.Glu298Lys	rs778100986	missense variant	-	NC_000003.12:g.184575865G>A	ExAC,gnomAD
EPHB3	P54753	p.Gly299Arg	rs749846196	missense variant	-	NC_000003.12:g.184575868G>C	ExAC,gnomAD
EPHB3	P54753	p.Gly299Glu	rs771399895	missense variant	-	NC_000003.12:g.184575869G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gly299Val	rs771399895	missense variant	-	NC_000003.12:g.184575869G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro300Ser	COSM3915484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184575871C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Pro303Ala	rs182804854	missense variant	-	NC_000003.12:g.184575880C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro303Ser	rs182804854	missense variant	-	NC_000003.12:g.184575880C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro306Arg	rs376039794	missense variant	-	NC_000003.12:g.184575890C>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro306Leu	rs376039794	missense variant	-	NC_000003.12:g.184575890C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro306His	rs376039794	missense variant	-	NC_000003.12:g.184575890C>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asn307Ser	rs1437170309	missense variant	-	NC_000003.12:g.184575893A>G	gnomAD
EPHB3	P54753	p.Ser308Asn	rs1276534495	missense variant	-	NC_000003.12:g.184575896G>A	gnomAD
EPHB3	P54753	p.Arg309His	rs549078813	missense variant	-	NC_000003.12:g.184575899G>A	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Arg309Cys	rs768629190	missense variant	-	NC_000003.12:g.184575898C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr310Ser	rs751702691	missense variant	-	NC_000003.12:g.184575902C>G	ExAC,gnomAD
EPHB3	P54753	p.Thr310Ile	rs751702691	missense variant	-	NC_000003.12:g.184575902C>T	ExAC,gnomAD
EPHB3	P54753	p.Thr310Pro	rs765218907	missense variant	-	NC_000003.12:g.184575901A>C	ExAC,gnomAD
EPHB3	P54753	p.Thr311Pro	rs759467668	missense variant	-	NC_000003.12:g.184575904A>C	ExAC,gnomAD
EPHB3	P54753	p.Thr311Ala	rs759467668	missense variant	-	NC_000003.12:g.184575904A>G	ExAC,gnomAD
EPHB3	P54753	p.Ser312Pro	rs752924603	missense variant	-	NC_000003.12:g.184575907T>C	ExAC,gnomAD
EPHB3	P54753	p.Ala314Val	rs1372211311	missense variant	-	NC_000003.12:g.184575914C>T	TOPMed
EPHB3	P54753	p.Ala315Thr	rs141695759	missense variant	-	NC_000003.12:g.184575916G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala315Ser	rs141695759	missense variant	-	NC_000003.12:g.184575916G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ile317Phe	rs754159266	missense variant	-	NC_000003.12:g.184575922A>T	ExAC
EPHB3	P54753	p.Ile317Leu	rs754159266	missense variant	-	NC_000003.12:g.184575922A>C	ExAC
EPHB3	P54753	p.Cys318Phe	rs745384535	missense variant	-	NC_000003.12:g.184575926G>T	ExAC,gnomAD
EPHB3	P54753	p.Cys318Ser	rs745384535	missense variant	-	NC_000003.12:g.184575926G>C	ExAC,gnomAD
EPHB3	P54753	p.Thr319Pro	rs779602166	missense variant	-	NC_000003.12:g.184575928A>C	ExAC,gnomAD
EPHB3	P54753	p.Thr319Asn	rs746687191	missense variant	-	NC_000003.12:g.184575929C>A	ExAC,gnomAD
EPHB3	P54753	p.Thr319Ile	rs746687191	missense variant	-	NC_000003.12:g.184575929C>T	ExAC,gnomAD
EPHB3	P54753	p.His321Tyr	rs768390764	missense variant	-	NC_000003.12:g.184575934C>T	ExAC,gnomAD
EPHB3	P54753	p.Asn323Lys	rs1266194550	missense variant	-	NC_000003.12:g.184575942C>A	TOPMed
EPHB3	P54753	p.Asn323Ile	rs1176017829	missense variant	-	NC_000003.12:g.184575941A>T	gnomAD
EPHB3	P54753	p.Arg326His	rs1389820335	missense variant	-	NC_000003.12:g.184575950G>A	TOPMed,gnomAD
EPHB3	P54753	p.Ser329Leu	rs747895201	missense variant	-	NC_000003.12:g.184575959C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp330Val	rs372695676	missense variant	-	NC_000003.12:g.184575962A>T	ESP,ExAC,gnomAD
EPHB3	P54753	p.Ser331Tyr	rs375556795	missense variant	-	NC_000003.12:g.184575965C>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser331Cys	rs375556795	missense variant	-	NC_000003.12:g.184575965C>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala332Val	rs767547020	missense variant	-	NC_000003.12:g.184575968C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala332Gly	rs767547020	missense variant	-	NC_000003.12:g.184575968C>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser334Asn	rs1283229897	missense variant	-	NC_000003.12:g.184575974G>A	gnomAD
EPHB3	P54753	p.Ala335Val	rs760921373	missense variant	-	NC_000003.12:g.184575977C>T	ExAC,gnomAD
EPHB3	P54753	p.Thr338Ile	rs1477368352	missense variant	-	NC_000003.12:g.184576842C>T	gnomAD
EPHB3	P54753	p.Val339Met	rs149247223	missense variant	-	NC_000003.12:g.184576844G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser341Ala	rs763398988	missense variant	-	NC_000003.12:g.184576850T>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser341Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184576851C>A	NCI-TCGA
EPHB3	P54753	p.Pro342Leu	rs1256335446	missense variant	-	NC_000003.12:g.184576854C>T	gnomAD
EPHB3	P54753	p.Arg344Ter	rs372575808	stop gained	-	NC_000003.12:g.184576859C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg344Gln	rs562993499	missense variant	-	NC_000003.12:g.184576860G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg344GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184576856C>-	NCI-TCGA
EPHB3	P54753	p.Arg344Gly	rs372575808	missense variant	-	NC_000003.12:g.184576859C>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gly345Asp	rs1188006452	missense variant	-	NC_000003.12:g.184576863G>A	TOPMed
EPHB3	P54753	p.Asn349Ser	rs1400999427	missense variant	-	NC_000003.12:g.184576875A>G	gnomAD
EPHB3	P54753	p.Ser354Leu	rs1233121524	missense variant	-	NC_000003.12:g.184576890C>T	gnomAD
EPHB3	P54753	p.Ile356Val	rs1256715336	missense variant	-	NC_000003.12:g.184576895A>G	gnomAD
EPHB3	P54753	p.Glu358Ala	COSM4115806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184576902A>C	NCI-TCGA Cosmic
EPHB3	P54753	p.Glu358Lys	rs201322151	missense variant	-	NC_000003.12:g.184576901G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser360Arg	rs777462615	missense variant	-	NC_000003.12:g.184576909T>A	ExAC,gnomAD
EPHB3	P54753	p.Arg363Pro	rs781759967	missense variant	-	NC_000003.12:g.184576917G>C	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg363Trp	rs549325655	missense variant	-	NC_000003.12:g.184576916C>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg363GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184576913C>-	NCI-TCGA
EPHB3	P54753	p.Arg363Gln	rs781759967	missense variant	-	NC_000003.12:g.184576917G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gly367Arg	rs1168221094	missense variant	-	NC_000003.12:g.184576928G>C	gnomAD
EPHB3	P54753	p.Arg368Trp	rs1198054446	missense variant	-	NC_000003.12:g.184576931C>T	gnomAD
EPHB3	P54753	p.Asp369Asn	rs746388630	missense variant	-	NC_000003.12:g.184576934G>A	ExAC,gnomAD
EPHB3	P54753	p.Asp370Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184576937G>A	NCI-TCGA
EPHB3	P54753	p.Leu371Val	rs768778880	missense variant	-	NC_000003.12:g.184576940C>G	ExAC,gnomAD
EPHB3	P54753	p.Val375Ile	rs776669177	missense variant	-	NC_000003.12:g.184576952G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Cys377Trp	rs1386759161	missense variant	-	NC_000003.12:g.184576960C>G	gnomAD
EPHB3	P54753	p.Cys377Tyr	rs762060127	missense variant	-	NC_000003.12:g.184576959G>A	ExAC,gnomAD
EPHB3	P54753	p.Lys378Gln	rs1353353673	missense variant	-	NC_000003.12:g.184576961A>C	gnomAD
EPHB3	P54753	p.Lys378Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184576961A>G	NCI-TCGA
EPHB3	P54753	p.Gly385Arg	rs1354729210	missense variant	-	NC_000003.12:g.184576982G>A	gnomAD
EPHB3	P54753	p.Ala386Pro	rs763312420	missense variant	-	NC_000003.12:g.184576985G>C	ExAC,gnomAD
EPHB3	P54753	p.Ala386Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184576986C>T	NCI-TCGA
EPHB3	P54753	p.Ser387Leu	rs752170254	missense variant	-	NC_000003.12:g.184576989C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala388Thr	rs200601511	missense variant	-	NC_000003.12:g.184576991G>A	ESP,TOPMed,gnomAD
EPHB3	P54753	p.Cys389Ser	rs767180194	missense variant	-	NC_000003.12:g.184576995G>C	ExAC,gnomAD
EPHB3	P54753	p.Cys389Tyr	rs767180194	missense variant	-	NC_000003.12:g.184576995G>A	ExAC,gnomAD
EPHB3	P54753	p.Arg391Cys	rs566350665	missense variant	-	NC_000003.12:g.184577000C>T	TOPMed,gnomAD
EPHB3	P54753	p.Arg391His	rs141064214	missense variant	-	NC_000003.12:g.184577001G>A	ESP,TOPMed,gnomAD
EPHB3	P54753	p.Asn395Asp	rs755747537	missense variant	-	NC_000003.12:g.184577012A>G	ExAC,gnomAD
EPHB3	P54753	p.Asn395Ser	rs777423504	missense variant	-	NC_000003.12:g.184577013A>G	ExAC,gnomAD
EPHB3	P54753	p.Val396Leu	rs144807386	missense variant	-	NC_000003.12:g.184577015G>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val396Met	rs144807386	missense variant	-	NC_000003.12:g.184577015G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val399Met	rs375763872	missense variant	-	NC_000003.12:g.184577024G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg401Trp	rs1365994557	missense variant	-	NC_000003.12:g.184577030C>T	TOPMed
EPHB3	P54753	p.Arg401Gln	rs140106380	missense variant	-	NC_000003.12:g.184577031G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gln402His	COSM6164094	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577035G>C	NCI-TCGA Cosmic
EPHB3	P54753	p.Gln402Lys	rs1377714208	missense variant	-	NC_000003.12:g.184577033C>A	gnomAD
EPHB3	P54753	p.Gly404Cys	COSM6164093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577039G>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Thr406Met	rs769913740	missense variant	-	NC_000003.12:g.184577046C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu407Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577048G>A	NCI-TCGA
EPHB3	P54753	p.Glu407Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.184577048G>T	NCI-TCGA
EPHB3	P54753	p.Arg408His	rs535315602	missense variant	-	NC_000003.12:g.184577052G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg408Cys	rs370364618	missense variant	-	NC_000003.12:g.184577051C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg409Trp	rs773741899	missense variant	-	NC_000003.12:g.184577054C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg409Gly	rs773741899	missense variant	-	NC_000003.12:g.184577054C>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg409Gln	rs768092104	missense variant	-	NC_000003.12:g.184577055G>A	ExAC,gnomAD
EPHB3	P54753	p.Val410Phe	rs1351314275	missense variant	-	NC_000003.12:g.184577057G>T	TOPMed
EPHB3	P54753	p.Ile412Asn	rs760161735	missense variant	-	NC_000003.12:g.184577064T>A	ExAC
EPHB3	P54753	p.Ile412Phe	rs775157731	missense variant	-	NC_000003.12:g.184577063A>T	ExAC
EPHB3	P54753	p.Ser413Asn	rs1334916359	missense variant	-	NC_000003.12:g.184577067G>A	TOPMed
EPHB3	P54753	p.Ala417Thr	COSM4856832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577078G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Thr419Arg	rs763505156	missense variant	-	NC_000003.12:g.184577085C>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr419Ala	rs951062210	missense variant	-	NC_000003.12:g.184577084A>G	TOPMed,gnomAD
EPHB3	P54753	p.Thr419Met	rs763505156	missense variant	-	NC_000003.12:g.184577085C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg420Cys	rs142854760	missense variant	-	NC_000003.12:g.184577087C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg420His	rs373788594	missense variant	-	NC_000003.12:g.184577088G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr422Ser	rs1401207898	missense variant	-	NC_000003.12:g.184577094C>G	gnomAD
EPHB3	P54753	p.Glu424Val	rs569320067	missense variant	-	NC_000003.12:g.184577100A>T	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Ala427Val	rs1301108594	missense variant	-	NC_000003.12:g.184577109C>T	TOPMed,gnomAD
EPHB3	P54753	p.Gly430Asp	rs1336653894	missense variant	-	NC_000003.12:g.184577118G>A	gnomAD
EPHB3	P54753	p.Gly430Ser	rs1293729077	missense variant	-	NC_000003.12:g.184577117G>A	TOPMed,gnomAD
EPHB3	P54753	p.Ser432Leu	rs756275485	missense variant	-	NC_000003.12:g.184577124C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro436Leu	rs779216599	missense variant	-	NC_000003.12:g.184577136C>T	gnomAD
EPHB3	P54753	p.Pro438Ser	rs749567734	missense variant	-	NC_000003.12:g.184577141C>T	ExAC,gnomAD
EPHB3	P54753	p.Arg440Leu	rs370732996	missense variant	-	NC_000003.12:g.184577148G>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg440His	rs370732996	missense variant	-	NC_000003.12:g.184577148G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg440Pro	rs370732996	missense variant	-	NC_000003.12:g.184577148G>C	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg440Cys	rs56029711	missense variant	-	NC_000003.12:g.184577147C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg440Cys	rs56029711	missense variant	-	NC_000003.12:g.184577147C>T	UniProt,dbSNP
EPHB3	P54753	p.Arg440Cys	VAR_042177	missense variant	-	NC_000003.12:g.184577147C>T	UniProt
EPHB3	P54753	p.Ala442Val	rs776201525	missense variant	-	NC_000003.12:g.184577154C>T	ExAC,gnomAD
EPHB3	P54753	p.Val444Met	rs753545856	missense variant	-	NC_000003.12:g.184577159G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala451Val	COSM3590810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577181C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Ala452Val	rs1215405583	missense variant	-	NC_000003.12:g.184577343C>T	gnomAD
EPHB3	P54753	p.Ala452Thr	rs1412087677	missense variant	-	NC_000003.12:g.184577183G>A	gnomAD
EPHB3	P54753	p.Pro453Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577345C>A	NCI-TCGA
EPHB3	P54753	p.Pro453Ser	rs772907622	missense variant	-	NC_000003.12:g.184577345C>T	ExAC,gnomAD
EPHB3	P54753	p.Val456Leu	rs766204022	missense variant	-	NC_000003.12:g.184577354G>C	ExAC,gnomAD
EPHB3	P54753	p.Thr458Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577360A>G	NCI-TCGA
EPHB3	P54753	p.Arg460His	rs367551424	missense variant	-	NC_000003.12:g.184577367G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg460Cys	rs1378516773	missense variant	-	NC_000003.12:g.184577366C>T	TOPMed,gnomAD
EPHB3	P54753	p.Arg460Leu	rs367551424	missense variant	-	NC_000003.12:g.184577367G>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.His462Gln	rs753960972	missense variant	-	NC_000003.12:g.184577374C>A	ExAC,gnomAD
EPHB3	P54753	p.Ser463Asn	rs976448749	missense variant	-	NC_000003.12:g.184577376G>A	TOPMed,gnomAD
EPHB3	P54753	p.Ser464Ile	rs1489826786	missense variant	-	NC_000003.12:g.184577379G>T	TOPMed
EPHB3	P54753	p.Ser465Leu	rs1402238373	missense variant	-	NC_000003.12:g.184577382C>T	gnomAD
EPHB3	P54753	p.Gly466Asp	rs1349252295	missense variant	-	NC_000003.12:g.184577385G>A	gnomAD
EPHB3	P54753	p.Ser467Gly	rs1441501555	missense variant	-	NC_000003.12:g.184577387A>G	gnomAD
EPHB3	P54753	p.Ser468Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577392C>G	NCI-TCGA
EPHB3	P54753	p.Leu469Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577393C>A	NCI-TCGA
EPHB3	P54753	p.Thr470Ile	rs750720535	missense variant	-	NC_000003.12:g.184577397C>T	ExAC,gnomAD
EPHB3	P54753	p.Trp473Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577407G>T	NCI-TCGA
EPHB3	P54753	p.Ala474Thr	COSM5994734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577408G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Pro475Leu	rs1352317421	missense variant	-	NC_000003.12:g.184577412C>T	gnomAD
EPHB3	P54753	p.Glu477Gly	rs780497068	missense variant	-	NC_000003.12:g.184577418A>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg478Trp	rs747285934	missense variant	-	NC_000003.12:g.184577420C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg478Gln	rs375496102	missense variant	-	NC_000003.12:g.184577421G>A	ESP,gnomAD
EPHB3	P54753	p.Pro479Ser	rs564635010	missense variant	-	NC_000003.12:g.184577423C>T	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Asn480Lys	rs1182532667	missense variant	-	NC_000003.12:g.184577428C>A	TOPMed,gnomAD
EPHB3	P54753	p.Asn480Ser	rs748640806	missense variant	-	NC_000003.12:g.184577427A>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp485Tyr	COSM4115807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577441G>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Asp485Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577442A>G	NCI-TCGA
EPHB3	P54753	p.Tyr486Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577445A>G	NCI-TCGA
EPHB3	P54753	p.Glu487Lys	rs770525111	missense variant	-	NC_000003.12:g.184577447G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu487Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.184577447G>T	NCI-TCGA
EPHB3	P54753	p.Tyr490Phe	rs774211642	missense variant	-	NC_000003.12:g.184577457A>T	ExAC,gnomAD
EPHB3	P54753	p.Glu492Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577462G>C	NCI-TCGA
EPHB3	P54753	p.Glu495Lys	rs531602325	missense variant	-	NC_000003.12:g.184577661G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gly496Cys	rs1355627786	missense variant	-	NC_000003.12:g.184577664G>T	gnomAD
EPHB3	P54753	p.Ala498Thr	rs571726697	missense variant	-	NC_000003.12:g.184577670G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gln504Ter	rs745516888	stop gained	-	NC_000003.12:g.184577688C>T	ExAC,gnomAD
EPHB3	P54753	p.Met505Ile	COSM232259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577693G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Val508Leu	rs976708397	missense variant	-	NC_000003.12:g.184577700G>C	TOPMed,gnomAD
EPHB3	P54753	p.Val508Met	rs976708397	missense variant	-	NC_000003.12:g.184577700G>A	TOPMed,gnomAD
EPHB3	P54753	p.Val508Leu	rs976708397	missense variant	-	NC_000003.12:g.184577700G>T	TOPMed,gnomAD
EPHB3	P54753	p.Gln509Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.184577703C>T	NCI-TCGA
EPHB3	P54753	p.Gly512Arg	rs921207057	missense variant	-	NC_000003.12:g.184577712G>A	TOPMed,gnomAD
EPHB3	P54753	p.Leu513Phe	COSM3915486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577715C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg514Gln	rs773436930	missense variant	-	NC_000003.12:g.184577719G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg514Leu	rs773436930	missense variant	-	NC_000003.12:g.184577719G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg514Trp	rs137990292	missense variant	-	NC_000003.12:g.184577718C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro515Ser	rs1476759332	missense variant	-	NC_000003.12:g.184577721C>T	gnomAD
EPHB3	P54753	p.Ala517Thr	rs372320884	missense variant	-	NC_000003.12:g.184577727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala517Ser	rs372320884	missense variant	-	NC_000003.12:g.184577727G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala517Val	rs767806437	missense variant	-	NC_000003.12:g.184577728C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg518Cys	rs144538024	missense variant	-	NC_000003.12:g.184577730C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg518His	rs756630127	missense variant	-	NC_000003.12:g.184577731G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg518Leu	rs756630127	missense variant	-	NC_000003.12:g.184577731G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val523Ile	rs1298374767	missense variant	-	NC_000003.12:g.184577745G>A	gnomAD
EPHB3	P54753	p.Arg524Cys	rs749795926	missense variant	-	NC_000003.12:g.184577748C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg524His	rs1232648223	missense variant	-	NC_000003.12:g.184577749G>A	gnomAD
EPHB3	P54753	p.Arg526His	rs756778465	missense variant	-	NC_000003.12:g.184577755G>A	ExAC,gnomAD
EPHB3	P54753	p.Val528Ile	rs1238216819	missense variant	-	NC_000003.12:g.184577760G>A	gnomAD
EPHB3	P54753	p.Gly530Asp	rs745543009	missense variant	-	NC_000003.12:g.184577767G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Tyr534Ter	rs775444676	stop gained	-	NC_000003.12:g.184577780C>G	ExAC,gnomAD
EPHB3	P54753	p.Arg536His	rs200203653	missense variant	-	NC_000003.12:g.184577785G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg536Pro	rs200203653	missense variant	-	NC_000003.12:g.184577785G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg536Cys	rs554953614	missense variant	-	NC_000003.12:g.184577784C>T	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Arg536Leu	rs200203653	missense variant	-	NC_000003.12:g.184577785G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro537Ser	rs1395133189	missense variant	-	NC_000003.12:g.184577787C>T	TOPMed,gnomAD
EPHB3	P54753	p.Pro537Ala	rs1395133189	missense variant	-	NC_000003.12:g.184577787C>G	TOPMed,gnomAD
EPHB3	P54753	p.Glu539Lys	rs1156449323	missense variant	-	NC_000003.12:g.184577793G>A	gnomAD
EPHB3	P54753	p.Phe540Ser	rs1363655393	missense variant	-	NC_000003.12:g.184577797T>C	gnomAD
EPHB3	P54753	p.Glu541Gly	COSM4115808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577800A>G	NCI-TCGA Cosmic
EPHB3	P54753	p.Thr542Asn	rs1454640254	missense variant	-	NC_000003.12:g.184577803C>A	gnomAD
EPHB3	P54753	p.Ser544Gly	rs368047857	missense variant	-	NC_000003.12:g.184577808A>G	ESP,TOPMed,gnomAD
EPHB3	P54753	p.Gly547Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577898G>T	NCI-TCGA
EPHB3	P54753	p.Gly549Glu	rs1393331336	missense variant	-	NC_000003.12:g.184577904G>A	gnomAD
EPHB3	P54753	p.Gly549Trp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184577903G>T	NCI-TCGA
EPHB3	P54753	p.Ala550ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184577903G>-	NCI-TCGA
EPHB3	P54753	p.Ala550Thr	rs558140041	missense variant	-	NC_000003.12:g.184577906G>A	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Gln552His	rs375352858	missense variant	-	NC_000003.12:g.184577914G>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gln552Leu	rs769723157	missense variant	-	NC_000003.12:g.184577913A>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gln552Ter	rs1273747541	stop gained	-	NC_000003.12:g.184577912C>T	gnomAD
EPHB3	P54753	p.Leu553Phe	rs1182474348	missense variant	-	NC_000003.12:g.184577915C>T	gnomAD
EPHB3	P54753	p.Gln554Lys	rs1250232728	missense variant	-	NC_000003.12:g.184577918C>A	gnomAD
EPHB3	P54753	p.Glu555Gly	rs143057646	missense variant	-	NC_000003.12:g.184577922A>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro558Leu	rs1254594162	missense variant	-	NC_000003.12:g.184577931C>T	gnomAD
EPHB3	P54753	p.Leu559Phe	rs775751510	missense variant	-	NC_000003.12:g.184577933C>T	ExAC,gnomAD
EPHB3	P54753	p.Leu559ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184577929_184577930insC	NCI-TCGA
EPHB3	P54753	p.Ile560Val	rs148220856	missense variant	-	NC_000003.12:g.184577936A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ile560Phe	rs148220856	missense variant	-	NC_000003.12:g.184577936A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val561Met	rs757650148	missense variant	-	NC_000003.12:g.184577939G>A	ExAC,gnomAD
EPHB3	P54753	p.Ala564Thr	rs141148443	missense variant	-	NC_000003.12:g.184577948G>A	ESP,ExAC,gnomAD
EPHB3	P54753	p.Thr565Ala	rs1367250993	missense variant	-	NC_000003.12:g.184577951A>G	TOPMed
EPHB3	P54753	p.Thr565Ile	rs1375009510	missense variant	-	NC_000003.12:g.184577952C>T	TOPMed,gnomAD
EPHB3	P54753	p.Ala566Thr	COSM3590813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184577954G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Gly567Val	rs751305478	missense variant	-	NC_000003.12:g.184577958G>T	ExAC,gnomAD
EPHB3	P54753	p.Leu568Phe	rs1212711281	missense variant	-	NC_000003.12:g.184577960C>T	gnomAD
EPHB3	P54753	p.Val571Leu	rs147361564	missense variant	-	NC_000003.12:g.184577969G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val571Met	rs147361564	missense variant	-	NC_000003.12:g.184577969G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala573Asp	rs1423604887	missense variant	-	NC_000003.12:g.184577976C>A	TOPMed
EPHB3	P54753	p.Val575Met	rs781716924	missense variant	-	NC_000003.12:g.184577981G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val575Ala	rs1267231212	missense variant	-	NC_000003.12:g.184577982T>C	TOPMed
EPHB3	P54753	p.Val575Leu	rs781716924	missense variant	-	NC_000003.12:g.184577981G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val576Ile	rs777836963	missense variant	-	NC_000003.12:g.184577984G>A	ExAC,gnomAD
EPHB3	P54753	p.Ala578Thr	rs772193071	missense variant	-	NC_000003.12:g.184577990G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ile579Val	rs56103851	missense variant	-	NC_000003.12:g.184577993A>G	UniProt,dbSNP
EPHB3	P54753	p.Ile579Val	VAR_042178	missense variant	-	NC_000003.12:g.184577993A>G	UniProt
EPHB3	P54753	p.Ile579Val	rs56103851	missense variant	-	NC_000003.12:g.184577993A>G	-
EPHB3	P54753	p.Val580Ile	rs139326780	missense variant	-	NC_000003.12:g.184577996G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Cys581Phe	rs1430391535	missense variant	-	NC_000003.12:g.184578000G>T	gnomAD
EPHB3	P54753	p.Gln585His	rs373243700	missense variant	-	NC_000003.12:g.184578420G>C	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg586Gln	rs1441268317	missense variant	-	NC_000003.12:g.184578422G>A	TOPMed,gnomAD
EPHB3	P54753	p.His587Gln	rs143288110	missense variant	-	NC_000003.12:g.184578426C>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.His587Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184578424C>T	NCI-TCGA
EPHB3	P54753	p.His587Gln	rs143288110	missense variant	-	NC_000003.12:g.184578426C>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gly588Ser	rs558627644	missense variant	-	NC_000003.12:g.184578427G>A	ExAC,gnomAD
EPHB3	P54753	p.Ser591Leu	rs376314906	missense variant	-	NC_000003.12:g.184578437C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr594Met	rs184970361	missense variant	-	NC_000003.12:g.184578446C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu595Val	rs1212349187	missense variant	-	NC_000003.12:g.184578449A>T	gnomAD
EPHB3	P54753	p.Lys596Asn	rs1252525335	missense variant	-	NC_000003.12:g.184578453G>C	gnomAD
EPHB3	P54753	p.Ile601Thr	rs1473454730	missense variant	-	NC_000003.12:g.184579477T>C	gnomAD
EPHB3	P54753	p.Ile601Leu	rs56129875	missense variant	-	NC_000003.12:g.184578466A>C	-
EPHB3	P54753	p.Ile601Leu	rs56129875	missense variant	-	NC_000003.12:g.184578466A>C	UniProt,dbSNP
EPHB3	P54753	p.Ile601Leu	VAR_042179	missense variant	-	NC_000003.12:g.184578466A>C	UniProt
EPHB3	P54753	p.Ala602Val	rs1185462418	missense variant	-	NC_000003.12:g.184579480C>T	gnomAD
EPHB3	P54753	p.Gly604Val	rs1290115860	missense variant	-	NC_000003.12:g.184579486G>T	TOPMed
EPHB3	P54753	p.Met605Val	rs758237101	missense variant	-	NC_000003.12:g.184579488A>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val607Phe	rs1475474154	missense variant	-	NC_000003.12:g.184579494G>T	gnomAD
EPHB3	P54753	p.Ile609Phe	rs540556062	missense variant	-	NC_000003.12:g.184579500A>T	1000Genomes,TOPMed,gnomAD
EPHB3	P54753	p.Ile609Val	rs540556062	missense variant	-	NC_000003.12:g.184579500A>G	1000Genomes,TOPMed,gnomAD
EPHB3	P54753	p.Ile609Thr	rs1292077521	missense variant	-	NC_000003.12:g.184579501T>C	TOPMed
EPHB3	P54753	p.Pro611His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184579507C>A	NCI-TCGA
EPHB3	P54753	p.Phe612Val	rs200910901	missense variant	-	NC_000003.12:g.184579509T>G	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Thr613Ile	rs147540989	missense variant	-	NC_000003.12:g.184579513C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu615Lys	rs112385651	missense variant	-	NC_000003.12:g.184579518G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asn618Lys	COSM730185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579529T>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Asn618Asp	rs779386061	missense variant	-	NC_000003.12:g.184579527A>G	ExAC,gnomAD
EPHB3	P54753	p.Glu619Lys	COSM4604587	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579530G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Val621Ile	rs772413999	missense variant	-	NC_000003.12:g.184579536G>A	ExAC,gnomAD
EPHB3	P54753	p.Arg622Gln	rs763019589	missense variant	-	NC_000003.12:g.184579540G>A	ExAC,gnomAD
EPHB3	P54753	p.Arg622Trp	rs1268552150	missense variant	-	NC_000003.12:g.184579539C>T	TOPMed,gnomAD
EPHB3	P54753	p.Glu627Gln	COSM6097132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579554G>C	NCI-TCGA Cosmic
EPHB3	P54753	p.Asp629Asn	rs768211202	missense variant	-	NC_000003.12:g.184579560G>A	ExAC,gnomAD
EPHB3	P54753	p.Val630Met	rs150037161	missense variant	-	NC_000003.12:g.184579563G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val630Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184579563G>T	NCI-TCGA
EPHB3	P54753	p.Val633SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184579572G>-	NCI-TCGA
EPHB3	P54753	p.Val633Ile	rs767600371	missense variant	-	NC_000003.12:g.184579572G>A	ExAC,gnomAD
EPHB3	P54753	p.Val633Ala	rs766161845	missense variant	-	NC_000003.12:g.184579573T>C	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu636Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184579581G>A	NCI-TCGA
EPHB3	P54753	p.Val638Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184579588T>C	NCI-TCGA
EPHB3	P54753	p.Ile639Met	rs148754015	missense variant	-	NC_000003.12:g.184579592C>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gly640Arg	rs1312705730	missense variant	-	NC_000003.12:g.184579593G>A	gnomAD
EPHB3	P54753	p.Glu643Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184579691A>C	NCI-TCGA
EPHB3	P54753	p.Gly645Glu	rs753916557	missense variant	-	NC_000003.12:g.184579696G>A	ExAC,gnomAD
EPHB3	P54753	p.Val647Met	rs369750575	missense variant	-	NC_000003.12:g.184579701G>A	ESP
EPHB3	P54753	p.Arg649Pro	COSM446109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579708G>C	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg649His	rs534204009	missense variant	-	NC_000003.12:g.184579708G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg649Cys	rs980639494	missense variant	-	NC_000003.12:g.184579707C>T	TOPMed,gnomAD
EPHB3	P54753	p.Arg649Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184579707C>A	NCI-TCGA
EPHB3	P54753	p.Gly650Ser	rs377144155	missense variant	-	NC_000003.12:g.184579710G>A	ESP,ExAC,gnomAD
EPHB3	P54753	p.Gly650Asp	rs1251977584	missense variant	-	NC_000003.12:g.184579711G>A	TOPMed
EPHB3	P54753	p.Arg651Gln	rs758750221	missense variant	-	NC_000003.12:g.184579714G>A	ExAC,gnomAD
EPHB3	P54753	p.Arg651Leu	rs758750221	missense variant	-	NC_000003.12:g.184579714G>T	ExAC,gnomAD
EPHB3	P54753	p.Gln654Pro	rs922729287	missense variant	-	NC_000003.12:g.184579723A>C	TOPMed,gnomAD
EPHB3	P54753	p.Pro655Ser	rs1235285565	missense variant	-	NC_000003.12:g.184579725C>T	gnomAD
EPHB3	P54753	p.Arg657Leu	rs756380352	missense variant	-	NC_000003.12:g.184579732G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg657Cys	rs369095387	missense variant	-	NC_000003.12:g.184579731C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg657His	rs756380352	missense variant	-	NC_000003.12:g.184579732G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg658Ter	rs780703655	stop gained	-	NC_000003.12:g.184579734C>T	ExAC,gnomAD
EPHB3	P54753	p.Arg658Gln	rs200994037	missense variant	-	NC_000003.12:g.184579735G>A	TOPMed,gnomAD
EPHB3	P54753	p.Val660Leu	rs1310221097	missense variant	-	NC_000003.12:g.184579740G>T	TOPMed
EPHB3	P54753	p.Ile664Leu	rs772797431	missense variant	-	NC_000003.12:g.184579752A>C	ExAC,gnomAD
EPHB3	P54753	p.Lys665Arg	rs1242528938	missense variant	-	NC_000003.12:g.184579756A>G	TOPMed
EPHB3	P54753	p.Thr666Met	rs766794354	missense variant	-	NC_000003.12:g.184579759C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Tyr671His	rs1297621055	missense variant	-	NC_000003.12:g.184579773T>C	TOPMed
EPHB3	P54753	p.Tyr671Cys	rs1382279108	missense variant	-	NC_000003.12:g.184579774A>G	gnomAD
EPHB3	P54753	p.Thr672Ile	rs776860405	missense variant	-	NC_000003.12:g.184579777C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr672Asn	rs776860405	missense variant	-	NC_000003.12:g.184579777C>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu673Lys	rs754275959	missense variant	-	NC_000003.12:g.184579779G>A	-
EPHB3	P54753	p.Arg674Thr	rs547253938	missense variant	-	NC_000003.12:g.184579783G>C	1000Genomes
EPHB3	P54753	p.Gln675Glu	rs1412525112	missense variant	-	NC_000003.12:g.184579785C>G	TOPMed
EPHB3	P54753	p.Arg676Trp	rs55824948	missense variant	-	NC_000003.12:g.184579788C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg677Trp	rs376071253	missense variant	-	NC_000003.12:g.184579791C>T	ESP,TOPMed,gnomAD
EPHB3	P54753	p.Arg677Gln	rs1389769224	missense variant	-	NC_000003.12:g.184579792G>A	TOPMed,gnomAD
EPHB3	P54753	p.Asp678Tyr	rs758617087	missense variant	-	NC_000003.12:g.184579794G>T	ExAC,gnomAD
EPHB3	P54753	p.Ser681Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184579804G>A	NCI-TCGA
EPHB3	P54753	p.Met686Val	rs1212644824	missense variant	-	NC_000003.12:g.184579818A>G	gnomAD
EPHB3	P54753	p.Gly687Ser	rs1273458201	missense variant	-	NC_000003.12:g.184579821G>A	gnomAD
EPHB3	P54753	p.Asp690Asn	rs1193582660	missense variant	-	NC_000003.12:g.184579830G>A	gnomAD
EPHB3	P54753	p.Pro692Ala	rs748640484	missense variant	-	NC_000003.12:g.184579836C>G	ExAC,gnomAD
EPHB3	P54753	p.Asn693Ser	rs755668878	missense variant	-	NC_000003.12:g.184579840A>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ile695Thr	rs371900672	missense variant	-	NC_000003.12:g.184579846T>C	ESP,ExAC,gnomAD
EPHB3	P54753	p.Arg696Trp	rs1475104653	missense variant	-	NC_000003.12:g.184579848C>T	TOPMed,gnomAD
EPHB3	P54753	p.Arg696Gln	rs748921352	missense variant	-	NC_000003.12:g.184579849G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Glu698Lys	rs371079069	missense variant	-	NC_000003.12:g.184579854G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val700Met	rs771992201	missense variant	-	NC_000003.12:g.184579860G>A	ExAC,gnomAD
EPHB3	P54753	p.Val701Phe	rs1290179963	missense variant	-	NC_000003.12:g.184579863G>T	gnomAD
EPHB3	P54753	p.Lys703Arg	rs760669239	missense variant	-	NC_000003.12:g.184579870A>G	ExAC,gnomAD
EPHB3	P54753	p.Ser704Ile	rs746516826	missense variant	-	NC_000003.12:g.184579873G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser704Asn	rs746516826	missense variant	-	NC_000003.12:g.184579873G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg705Trp	rs773303627	missense variant	-	NC_000003.12:g.184579875C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg705Gln	rs1224865732	missense variant	-	NC_000003.12:g.184579876G>A	gnomAD
EPHB3	P54753	p.Pro706Thr	rs1259662067	missense variant	-	NC_000003.12:g.184579878C>A	gnomAD
EPHB3	P54753	p.Pro706Leu	rs757806643	missense variant	-	NC_000003.12:g.184579879C>T	ExAC,gnomAD
EPHB3	P54753	p.Ile709Leu	COSM4115810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579887A>C	NCI-TCGA Cosmic
EPHB3	P54753	p.Ile709Val	rs766565475	missense variant	-	NC_000003.12:g.184579887A>G	ExAC,gnomAD
EPHB3	P54753	p.Phe713Leu	rs1485516479	missense variant	-	NC_000003.12:g.184579899T>C	gnomAD
EPHB3	P54753	p.Phe713Ile	rs1485516479	missense variant	-	NC_000003.12:g.184579899T>A	gnomAD
EPHB3	P54753	p.Met714Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184579902A>C	NCI-TCGA
EPHB3	P54753	p.Met714Thr	rs767844481	missense variant	-	NC_000003.12:g.184579903T>C	ExAC,gnomAD
EPHB3	P54753	p.Glu715Lys	rs753240727	missense variant	-	NC_000003.12:g.184579905G>A	ExAC,gnomAD
EPHB3	P54753	p.Cys717Arg	rs1426946874	missense variant	-	NC_000003.12:g.184579911T>C	gnomAD
EPHB3	P54753	p.Cys717Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.184579913C>A	NCI-TCGA
EPHB3	P54753	p.Ala718Ser	COSM730184	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184579914G>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Ala718Thr	rs777166808	missense variant	-	NC_000003.12:g.184579914G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp720His	rs753327984	missense variant	-	NC_000003.12:g.184579920G>C	ExAC,gnomAD
EPHB3	P54753	p.Arg724Trp	rs371378866	missense variant	-	NC_000003.12:g.184579932C>T	1000Genomes,ESP,ExAC,gnomAD
EPHB3	P54753	p.Arg724Trp	rs371378866	missense variant	-	NC_000003.12:g.184579932C>T	UniProt,dbSNP
EPHB3	P54753	p.Arg724Trp	VAR_042180	missense variant	-	NC_000003.12:g.184579932C>T	UniProt
EPHB3	P54753	p.Arg724Gln	rs368055350	missense variant	-	NC_000003.12:g.184579933G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg724Leu	rs368055350	missense variant	-	NC_000003.12:g.184579933G>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asn726Lys	COSM4115811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580407C>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Asn726Lys	rs367573706	missense variant	-	NC_000003.12:g.184580407C>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp727Tyr	rs34170386	missense variant	-	NC_000003.12:g.184580408G>T	ExAC,gnomAD
EPHB3	P54753	p.Asp727Asn	rs34170386	missense variant	-	NC_000003.12:g.184580408G>A	ExAC,gnomAD
EPHB3	P54753	p.Gln729Pro	rs1326494826	missense variant	-	NC_000003.12:g.184580415A>C	gnomAD
EPHB3	P54753	p.Phe730Leu	rs1370218915	missense variant	-	NC_000003.12:g.184580419C>A	TOPMed,gnomAD
EPHB3	P54753	p.Thr731Ala	rs1217426361	missense variant	-	NC_000003.12:g.184580420A>G	gnomAD
EPHB3	P54753	p.Thr731Met	rs1261462043	missense variant	-	NC_000003.12:g.184580421C>T	TOPMed,gnomAD
EPHB3	P54753	p.Val732Ala	rs1209726404	missense variant	-	NC_000003.12:g.184580424T>C	TOPMed
EPHB3	P54753	p.Met738Leu	COSM730183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580441A>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Met738Thr	rs781247528	missense variant	-	NC_000003.12:g.184580442T>C	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Leu739Phe	COSM70634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580446G>C	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg740Trp	COSM4968838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580447C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg740Gln	rs1317296938	missense variant	-	NC_000003.12:g.184580448G>A	gnomAD
EPHB3	P54753	p.Ile742Val	rs1236240465	missense variant	-	NC_000003.12:g.184580453A>G	TOPMed
EPHB3	P54753	p.Ala744Thr	rs1398671390	missense variant	-	NC_000003.12:g.184580459G>A	gnomAD
EPHB3	P54753	p.Gly745Ser	rs1266529706	missense variant	-	NC_000003.12:g.184580462G>A	gnomAD
EPHB3	P54753	p.Gly745Val	rs774373853	missense variant	-	NC_000003.12:g.184580463G>T	ExAC,gnomAD
EPHB3	P54753	p.Leu749Gln	COSM4931102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580475T>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Leu749Met	COSM1042098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580474C>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Glu751Lys	rs764357218	missense variant	-	NC_000003.12:g.184580480G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Met752Ile	COSM1205519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580485G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Met752Thr	rs777247629	missense variant	-	NC_000003.12:g.184580484T>C	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Tyr754Asp	rs762197883	missense variant	-	NC_000003.12:g.184580489T>G	ExAC,gnomAD
EPHB3	P54753	p.Arg757Cys	rs1289356410	missense variant	-	NC_000003.12:g.184580498C>T	TOPMed,gnomAD
EPHB3	P54753	p.Asp758Gly	rs1212017391	missense variant	-	NC_000003.12:g.184580502A>G	gnomAD
EPHB3	P54753	p.Arg762Cys	COSM1421396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580513C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg762His	rs1452194148	missense variant	-	NC_000003.12:g.184580514G>A	gnomAD
EPHB3	P54753	p.Ile764Asn	rs1231317780	missense variant	-	NC_000003.12:g.184580520T>A	TOPMed,gnomAD
EPHB3	P54753	p.Val766Ala	rs758138726	missense variant	-	NC_000003.12:g.184580526T>C	ExAC,gnomAD
EPHB3	P54753	p.Asn769Asp	rs1162284145	missense variant	-	NC_000003.12:g.184580534A>G	gnomAD
EPHB3	P54753	p.Leu770Val	rs754850312	missense variant	-	NC_000003.12:g.184580537C>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val771Ala	rs780819080	missense variant	-	NC_000003.12:g.184580541T>C	ExAC,gnomAD
EPHB3	P54753	p.Ser775Leu	COSM3590817	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580553C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Asp776ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184580554A>-	NCI-TCGA
EPHB3	P54753	p.Gly778Cys	COSM6164091	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580561G>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg781Cys	rs372396917	missense variant	-	NC_000003.12:g.184580570C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg781His	rs745879472	missense variant	-	NC_000003.12:g.184580571G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Phe782Val	rs772129945	missense variant	-	NC_000003.12:g.184580573T>G	ExAC
EPHB3	P54753	p.Asp785Asn	rs1036010431	missense variant	-	NC_000003.12:g.184580582G>A	TOPMed,gnomAD
EPHB3	P54753	p.Asp785Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184580583A>G	NCI-TCGA
EPHB3	P54753	p.Asp786Gly	rs1357317283	missense variant	-	NC_000003.12:g.184580586A>G	gnomAD
EPHB3	P54753	p.Asp786Asn	rs747181480	missense variant	-	NC_000003.12:g.184580585G>A	ExAC,gnomAD
EPHB3	P54753	p.Pro787Ser	COSM3590818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580588C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Ser788Tyr	rs146519815	missense variant	-	NC_000003.12:g.184580592C>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser788Phe	rs146519815	missense variant	-	NC_000003.12:g.184580592C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser788Cys	rs146519815	missense variant	-	NC_000003.12:g.184580592C>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp789Asn	COSM4115814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580594G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Pro790Leu	rs1204301997	missense variant	-	NC_000003.12:g.184580598C>T	gnomAD
EPHB3	P54753	p.Thr791Ala	rs772853395	missense variant	-	NC_000003.12:g.184580600A>G	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ser795Phe	COSM3590819	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580613C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Gly797Asp	rs1173606859	missense variant	-	NC_000003.12:g.184580730G>A	gnomAD
EPHB3	P54753	p.Gly797Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184580729G>T	NCI-TCGA
EPHB3	P54753	p.Gly798Arg	rs752387778	missense variant	-	NC_000003.12:g.184580732G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ile800Leu	rs150152730	missense variant	-	NC_000003.12:g.184580738A>C	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ile802Leu	rs763850697	missense variant	-	NC_000003.12:g.184580744A>C	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg803His	rs753817157	missense variant	-	NC_000003.12:g.184580748G>A	ExAC,gnomAD
EPHB3	P54753	p.Arg803Cys	rs928574732	missense variant	-	NC_000003.12:g.184580747C>T	TOPMed,gnomAD
EPHB3	P54753	p.Arg803Leu	rs753817157	missense variant	-	NC_000003.12:g.184580748G>T	ExAC,gnomAD
EPHB3	P54753	p.Trp804Cys	COSM6097131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580752G>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Ala806Gly	rs757148735	missense variant	-	NC_000003.12:g.184580757C>G	ExAC,gnomAD
EPHB3	P54753	p.Pro807Ser	rs575214989	missense variant	-	NC_000003.12:g.184580759C>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg813Trp	rs374567246	missense variant	-	NC_000003.12:g.184580777C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg813Gly	rs374567246	missense variant	-	NC_000003.12:g.184580777C>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg813Gln	rs781335594	missense variant	-	NC_000003.12:g.184580778G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Phe815Val	rs1464152374	missense variant	-	NC_000003.12:g.184580783T>G	gnomAD
EPHB3	P54753	p.Ala818Val	rs964094229	missense variant	-	NC_000003.12:g.184580793C>T	TOPMed
EPHB3	P54753	p.Ser819Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184580796G>C	NCI-TCGA
EPHB3	P54753	p.Asp820Asn	COSM1484921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184580798G>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Trp822Ter	rs770322127	stop gained	-	NC_000003.12:g.184580805G>A	ExAC,gnomAD
EPHB3	P54753	p.Gly825Arg	rs749833291	missense variant	-	NC_000003.12:g.184580813G>A	ExAC,gnomAD
EPHB3	P54753	p.Val827Ile	rs920048509	missense variant	-	NC_000003.12:g.184580819G>A	gnomAD
EPHB3	P54753	p.Met828Thr	rs771505755	missense variant	-	NC_000003.12:g.184580823T>C	ExAC,gnomAD
EPHB3	P54753	p.Trp829Arg	rs201145215	missense variant	-	NC_000003.12:g.184580825T>C	1000Genomes,gnomAD
EPHB3	P54753	p.Val831Gly	rs1457942350	missense variant	-	NC_000003.12:g.184580832T>G	gnomAD
EPHB3	P54753	p.Met832Thr	rs200524500	missense variant	-	NC_000003.12:g.184580835T>C	1000Genomes
EPHB3	P54753	p.Ser833Arg	rs773914022	missense variant	-	NC_000003.12:g.184580839C>G	ExAC,gnomAD
EPHB3	P54753	p.Tyr834Cys	rs759032023	missense variant	-	NC_000003.12:g.184580841A>G	ExAC,gnomAD
EPHB3	P54753	p.Glu836Asp	rs1331610227	missense variant	-	NC_000003.12:g.184580848G>T	gnomAD
EPHB3	P54753	p.Glu836Lys	rs1300428807	missense variant	-	NC_000003.12:g.184580846G>A	gnomAD
EPHB3	P54753	p.Arg837Gln	rs1235401341	missense variant	-	NC_000003.12:g.184580850G>A	TOPMed,gnomAD
EPHB3	P54753	p.Met842Leu	rs1234028773	missense variant	-	NC_000003.12:g.184580864A>C	gnomAD
EPHB3	P54753	p.Met842Lys	rs775050966	missense variant	-	NC_000003.12:g.184580865T>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Met842Ile	rs1377817962	missense variant	-	NC_000003.12:g.184580866G>C	TOPMed
EPHB3	P54753	p.Gln845Ter	rs1328272606	stop gained	-	NC_000003.12:g.184580873C>T	gnomAD
EPHB3	P54753	p.Asp846Asn	rs1269650298	missense variant	-	NC_000003.12:g.184580876G>A	gnomAD
EPHB3	P54753	p.Ala850Val	rs771519161	missense variant	-	NC_000003.12:g.184580982C>T	ExAC,gnomAD
EPHB3	P54753	p.Ala850Thr	rs746361056	missense variant	-	NC_000003.12:g.184580981G>A	ExAC,TOPMed
EPHB3	P54753	p.Val851Leu	rs746690662	missense variant	-	NC_000003.12:g.184580984G>C	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val851Met	rs746690662	missense variant	-	NC_000003.12:g.184580984G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gln853Glu	rs776416091	missense variant	-	NC_000003.12:g.184580990C>G	ExAC,gnomAD
EPHB3	P54753	p.Arg856Gln	rs563209426	missense variant	-	NC_000003.12:g.184581000G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg856Trp	rs761663522	missense variant	-	NC_000003.12:g.184580999C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro859Leu	rs370476366	missense variant	-	NC_000003.12:g.184581009C>T	ESP,TOPMed
EPHB3	P54753	p.Pro859Ser	rs773074850	missense variant	-	NC_000003.12:g.184581008C>T	ExAC,gnomAD
EPHB3	P54753	p.Pro860Ser	rs762906708	missense variant	-	NC_000003.12:g.184581011C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro860Thr	rs762906708	missense variant	-	NC_000003.12:g.184581011C>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro860Leu	rs1165799669	missense variant	-	NC_000003.12:g.184581012C>T	gnomAD
EPHB3	P54753	p.Met861Thr	COSM1421398	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581015T>C	NCI-TCGA Cosmic
EPHB3	P54753	p.Met861Ile	rs1166574205	missense variant	-	NC_000003.12:g.184581016G>A	gnomAD
EPHB3	P54753	p.Met861Leu	rs752766874	missense variant	-	NC_000003.12:g.184581014A>C	ExAC,gnomAD
EPHB3	P54753	p.Ala866Glu	rs756408034	missense variant	-	NC_000003.12:g.184581030C>A	ExAC,gnomAD
EPHB3	P54753	p.Leu870His	rs1309605764	missense variant	-	NC_000003.12:g.184581042T>A	gnomAD
EPHB3	P54753	p.Asp873Gly	rs1395057131	missense variant	-	NC_000003.12:g.184581051A>G	gnomAD
EPHB3	P54753	p.Asp873Tyr	rs754095515	missense variant	-	NC_000003.12:g.184581050G>T	ExAC,gnomAD
EPHB3	P54753	p.Val876Gly	COSM4924851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581060T>G	NCI-TCGA Cosmic
EPHB3	P54753	p.Val876Met	rs1313022937	missense variant	-	NC_000003.12:g.184581059G>A	gnomAD
EPHB3	P54753	p.Arg877Gln	rs779302587	missense variant	-	NC_000003.12:g.184581063G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg877Trp	rs373987540	missense variant	-	NC_000003.12:g.184581062C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp878ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184581064_184581065insACTGCTGGGTGTGT	NCI-TCGA
EPHB3	P54753	p.Arg879Trp	rs367858130	missense variant	-	NC_000003.12:g.184581068C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg879Gln	rs779557910	missense variant	-	NC_000003.12:g.184581069G>A	ExAC,gnomAD
EPHB3	P54753	p.Asn880Thr	rs1255811150	missense variant	-	NC_000003.12:g.184581072A>C	gnomAD
EPHB3	P54753	p.Leu881His	COSM1484922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581075T>A	NCI-TCGA Cosmic
EPHB3	P54753	p.Phe885Leu	rs776323145	missense variant	-	NC_000003.12:g.184581086T>C	ExAC,gnomAD
EPHB3	P54753	p.Phe885Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184581088C>A	NCI-TCGA
EPHB3	P54753	p.Gln887His	rs1375491503	missense variant	-	NC_000003.12:g.184581094G>T	TOPMed
EPHB3	P54753	p.Ile888Val	rs1426740311	missense variant	-	NC_000003.12:g.184581095A>G	gnomAD
EPHB3	P54753	p.Ile888Thr	rs1277732227	missense variant	-	NC_000003.12:g.184581096T>C	TOPMed
EPHB3	P54753	p.Ile888Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184581096T>A	NCI-TCGA
EPHB3	P54753	p.Val889Leu	rs1415559393	missense variant	-	NC_000003.12:g.184581098G>C	gnomAD
EPHB3	P54753	p.Thr891Asn	rs1188001455	missense variant	-	NC_000003.12:g.184581105C>A	gnomAD
EPHB3	P54753	p.Lys894Glu	COSM730182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581113A>G	NCI-TCGA Cosmic
EPHB3	P54753	p.Lys894Asn	rs769518076	missense variant	-	NC_000003.12:g.184581115G>C	ExAC,gnomAD
EPHB3	P54753	p.Leu895Phe	rs760955586	missense variant	-	NC_000003.12:g.184581116C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Leu895Ile	rs760955586	missense variant	-	NC_000003.12:g.184581116C>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg897Leu	rs1357171765	missense variant	-	NC_000003.12:g.184581123G>T	TOPMed,gnomAD
EPHB3	P54753	p.Arg897Cys	rs762809259	missense variant	-	NC_000003.12:g.184581122C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg897His	rs1357171765	missense variant	-	NC_000003.12:g.184581123G>A	TOPMed,gnomAD
EPHB3	P54753	p.Asn898Ser	rs774425967	missense variant	-	NC_000003.12:g.184581126A>G	ExAC,gnomAD
EPHB3	P54753	p.Ala899Gly	rs1374461997	missense variant	-	NC_000003.12:g.184581129C>G	TOPMed
EPHB3	P54753	p.Ala900Val	rs199632514	missense variant	-	NC_000003.12:g.184581132C>T	1000Genomes,gnomAD
EPHB3	P54753	p.Val904Ile	rs764242189	missense variant	-	NC_000003.12:g.184581143G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ile905Val	rs893591288	missense variant	-	NC_000003.12:g.184581146A>G	gnomAD
EPHB3	P54753	p.Ala906Thr	rs754150783	missense variant	-	NC_000003.12:g.184581149G>A	ExAC,gnomAD
EPHB3	P54753	p.Ser907Arg	rs551443278	missense variant	-	NC_000003.12:g.184581154C>G	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala908Thr	rs765545961	missense variant	-	NC_000003.12:g.184581155G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala908Ser	rs765545961	missense variant	-	NC_000003.12:g.184581155G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gln909Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.184581158C>T	NCI-TCGA
EPHB3	P54753	p.Ser910Pro	rs758837913	missense variant	-	NC_000003.12:g.184581161T>C	ExAC,gnomAD
EPHB3	P54753	p.Gly911Arg	rs147185039	missense variant	-	NC_000003.12:g.184581164G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Met912Val	rs1208298412	missense variant	-	NC_000003.12:g.184581254A>G	TOPMed,gnomAD
EPHB3	P54753	p.Met912Leu	rs1208298412	missense variant	-	NC_000003.12:g.184581254A>T	TOPMed,gnomAD
EPHB3	P54753	p.Met912Ile	rs768884957	missense variant	-	NC_000003.12:g.184581256G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Met912Thr	rs759513444	missense variant	-	NC_000003.12:g.184581255T>C	ExAC,gnomAD
EPHB3	P54753	p.Arg919Cys	rs776806796	missense variant	-	NC_000003.12:g.184581275C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg919Leu	rs761956753	missense variant	-	NC_000003.12:g.184581276G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg919His	rs761956753	missense variant	-	NC_000003.12:g.184581276G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr920Met	rs1488106731	missense variant	-	NC_000003.12:g.184581279C>T	TOPMed,gnomAD
EPHB3	P54753	p.Val921Ile	rs750610363	missense variant	-	NC_000003.12:g.184581281G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro922Ser	rs1471500854	missense variant	-	NC_000003.12:g.184581284C>T	gnomAD
EPHB3	P54753	p.Asp923Tyr	rs1157884908	missense variant	-	NC_000003.12:g.184581287G>T	gnomAD
EPHB3	P54753	p.Tyr924Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184581291A>G	NCI-TCGA
EPHB3	P54753	p.Thr926Ser	rs143430250	missense variant	-	NC_000003.12:g.184581297C>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr926Asn	rs143430250	missense variant	-	NC_000003.12:g.184581297C>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr926Ile	rs143430250	missense variant	-	NC_000003.12:g.184581297C>T	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr926Ala	rs372221231	missense variant	-	NC_000003.12:g.184581296A>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr928Met	rs752102362	missense variant	-	NC_000003.12:g.184581303C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Val930Ala	rs1357687152	missense variant	-	NC_000003.12:g.184581309T>C	gnomAD
EPHB3	P54753	p.Val930Ile	rs1295829988	missense variant	-	NC_000003.12:g.184581308G>A	gnomAD
EPHB3	P54753	p.Asp932Gly	rs1228175728	missense variant	-	NC_000003.12:g.184581315A>G	gnomAD
EPHB3	P54753	p.Asp932Asn	rs1484978796	missense variant	-	NC_000003.12:g.184581314G>A	TOPMed
EPHB3	P54753	p.Gly940Glu	rs202198661	missense variant	-	NC_000003.12:g.184581339G>A	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Gly940Ala	rs202198661	missense variant	-	NC_000003.12:g.184581339G>C	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg941Gln	rs571252781	missense variant	-	NC_000003.12:g.184581342G>A	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg941Trp	rs770886313	missense variant	-	NC_000003.12:g.184581341C>T	ExAC,gnomAD
EPHB3	P54753	p.Tyr942Phe	rs745819860	missense variant	-	NC_000003.12:g.184581345A>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Lys943Glu	rs1481913744	missense variant	-	NC_000003.12:g.184581347A>G	gnomAD
EPHB3	P54753	p.Ser945Asn	rs942981661	missense variant	-	NC_000003.12:g.184581354G>A	TOPMed
EPHB3	P54753	p.Ser945Arg	rs557737284	missense variant	-	NC_000003.12:g.184581355C>G	1000Genomes,gnomAD
EPHB3	P54753	p.Val947Ile	rs201579004	missense variant	-	NC_000003.12:g.184581359G>A	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Val947Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184581359G>T	NCI-TCGA
EPHB3	P54753	p.Ala949Thr	rs1405463515	missense variant	-	NC_000003.12:g.184581365G>A	gnomAD
EPHB3	P54753	p.Ala949Val	rs773532061	missense variant	-	NC_000003.12:g.184581366C>T	ExAC,gnomAD
EPHB3	P54753	p.Gly950Glu	rs1308996395	missense variant	-	NC_000003.12:g.184581369G>A	gnomAD
EPHB3	P54753	p.Gly950Arg	rs766762619	missense variant	-	NC_000003.12:g.184581368G>A	ExAC,gnomAD
EPHB3	P54753	p.Phe951Cys	COSM4892564	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581372T>G	NCI-TCGA Cosmic
EPHB3	P54753	p.Ser953Phe	COSM3590823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581378C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Asp955Val	rs1283844442	missense variant	-	NC_000003.12:g.184581384A>T	gnomAD
EPHB3	P54753	p.Asp955Glu	rs1357073362	missense variant	-	NC_000003.12:g.184581385C>G	gnomAD
EPHB3	P54753	p.Leu956ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184581384_184581385insC	NCI-TCGA
EPHB3	P54753	p.Met960Thr	rs1339954996	missense variant	-	NC_000003.12:g.184581399T>C	gnomAD
EPHB3	P54753	p.Met960Ile	rs753131023	missense variant	-	NC_000003.12:g.184581400G>T	ExAC,gnomAD
EPHB3	P54753	p.Thr961Met	rs574118020	missense variant	-	NC_000003.12:g.184581402C>T	1000Genomes,ExAC,gnomAD
EPHB3	P54753	p.Ala962Ser	rs763476526	missense variant	-	NC_000003.12:g.184581404G>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala962Thr	rs763476526	missense variant	-	NC_000003.12:g.184581404G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asp964Glu	rs753227216	missense variant	-	NC_000003.12:g.184581517C>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Leu965Val	rs756976275	missense variant	-	NC_000003.12:g.184581518C>G	ExAC,gnomAD
EPHB3	P54753	p.Arg967Leu	COSM1308900	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581525G>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Arg967Cys	rs779683047	missense variant	-	NC_000003.12:g.184581524C>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg967His	rs890270833	missense variant	-	NC_000003.12:g.184581525G>A	TOPMed,gnomAD
EPHB3	P54753	p.Val970Ile	rs749686296	missense variant	-	NC_000003.12:g.184581533G>A	TOPMed
EPHB3	P54753	p.Thr971Ala	rs746999423	missense variant	-	NC_000003.12:g.184581536A>G	ExAC,gnomAD
EPHB3	P54753	p.Leu972Pro	rs754824776	missense variant	-	NC_000003.12:g.184581540T>C	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Ala973Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184581542G>A	NCI-TCGA
EPHB3	P54753	p.His975Arg	rs971902193	missense variant	-	NC_000003.12:g.184581549A>G	TOPMed,gnomAD
EPHB3	P54753	p.His975Tyr	rs1231049158	missense variant	-	NC_000003.12:g.184581548C>T	gnomAD
EPHB3	P54753	p.Ile979Asn	rs749436110	missense variant	-	NC_000003.12:g.184581561T>A	ExAC,gnomAD
EPHB3	P54753	p.Ser982Thr	rs1224921793	missense variant	-	NC_000003.12:g.184581570G>C	TOPMed,gnomAD
EPHB3	P54753	p.Ser982Asn	rs1224921793	missense variant	-	NC_000003.12:g.184581570G>A	TOPMed,gnomAD
EPHB3	P54753	p.Gln984Glu	rs1250491402	missense variant	-	NC_000003.12:g.184581575C>G	TOPMed
EPHB3	P54753	p.Met986Leu	rs770984953	missense variant	-	NC_000003.12:g.184581581A>T	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Met986Thr	rs774604679	missense variant	-	NC_000003.12:g.184581582T>C	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg987Trp	rs539714486	missense variant	-	NC_000003.12:g.184581584C>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Arg987Gln	rs775664957	missense variant	-	NC_000003.12:g.184581585G>A	ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Met990Val	rs370131010	missense variant	-	NC_000003.12:g.184581593A>G	ESP,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Asn991Ser	rs764445140	missense variant	-	NC_000003.12:g.184581597A>G	ExAC,gnomAD
EPHB3	P54753	p.Asn991Lys	rs1378532830	missense variant	-	NC_000003.12:g.184581598C>G	gnomAD
EPHB3	P54753	p.Thr993Arg	rs200546160	missense variant	-	NC_000003.12:g.184581603C>G	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Thr993Met	rs200546160	missense variant	-	NC_000003.12:g.184581603C>T	1000Genomes,ExAC,TOPMed,gnomAD
EPHB3	P54753	p.Pro995Ser	COSM3846902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184581608C>T	NCI-TCGA Cosmic
EPHB3	P54753	p.Pro995Leu	rs764822427	missense variant	-	NC_000003.12:g.184581609C>T	ExAC,gnomAD
EPHB3	P54753	p.Val996Met	rs750141705	missense variant	-	NC_000003.12:g.184581611G>A	ExAC,gnomAD
EPHB3	P54753	p.Gln997His	rs1388719047	missense variant	-	NC_000003.12:g.184581616G>C	TOPMed,gnomAD
EPHB3	P54753	p.Gln997Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184581614C>A	NCI-TCGA
PRRX1	P54821	p.Ser4Arg	rs980757253	missense variant	-	NC_000001.11:g.170664230C>G	TOPMed,gnomAD
PRRX1	P54821	p.Ser4Thr	rs938234243	missense variant	-	NC_000001.11:g.170664229G>C	TOPMed,gnomAD
PRRX1	P54821	p.Tyr5Ser	rs1476502323	missense variant	-	NC_000001.11:g.170664232A>C	gnomAD
PRRX1	P54821	p.Tyr5Cys	rs1476502323	missense variant	-	NC_000001.11:g.170664232A>G	gnomAD
PRRX1	P54821	p.Gly6Arg	rs748513691	missense variant	-	NC_000001.11:g.170664234G>C	ExAC,gnomAD
PRRX1	P54821	p.Gly6Arg	rs748513691	missense variant	-	NC_000001.11:g.170664234G>A	ExAC,gnomAD
PRRX1	P54821	p.His7Asn	rs1417001664	missense variant	-	NC_000001.11:g.170664237C>A	TOPMed
PRRX1	P54821	p.His7Gln	rs1462039714	missense variant	-	NC_000001.11:g.170664239C>A	gnomAD
PRRX1	P54821	p.Val8Ile	rs772523348	missense variant	-	NC_000001.11:g.170664240G>A	ExAC,gnomAD
PRRX1	P54821	p.Arg11Gln	rs1296706757	missense variant	-	NC_000001.11:g.170664250G>A	gnomAD
PRRX1	P54821	p.Arg11Leu	rs1296706757	missense variant	-	NC_000001.11:g.170664250G>T	gnomAD
PRRX1	P54821	p.Arg11Gly	rs778274576	missense variant	-	NC_000001.11:g.170664249C>G	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg11Trp	rs778274576	missense variant	-	NC_000001.11:g.170664249C>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Pro13Arg	rs200885791	missense variant	-	NC_000001.11:g.170664256C>G	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Pro13Leu	rs200885791	missense variant	-	NC_000001.11:g.170664256C>T	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Pro13Ser	rs775130367	missense variant	-	NC_000001.11:g.170664255C>T	ExAC,gnomAD
PRRX1	P54821	p.Ala14Thr	rs768368980	missense variant	-	NC_000001.11:g.170664258G>A	ExAC,gnomAD
PRRX1	P54821	p.Ala14Val	rs1464363985	missense variant	-	NC_000001.11:g.170664259C>T	gnomAD
PRRX1	P54821	p.Leu15Arg	rs1440483766	missense variant	-	NC_000001.11:g.170664262T>G	gnomAD
PRRX1	P54821	p.Gly16Ser	rs761732223	missense variant	-	NC_000001.11:g.170664264G>A	ExAC,gnomAD
PRRX1	P54821	p.Gly17Ser	rs370044964	missense variant	-	NC_000001.11:g.170664267G>A	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg18His	rs1409882371	missense variant	-	NC_000001.11:g.170664271G>A	gnomAD
PRRX1	P54821	p.Arg18Leu	rs1409882371	missense variant	-	NC_000001.11:g.170664271G>T	gnomAD
PRRX1	P54821	p.Ser21Asn	rs1453606467	missense variant	-	NC_000001.11:g.170664280G>A	gnomAD
PRRX1	P54821	p.Gly23Val	rs1319221832	missense variant	-	NC_000001.11:g.170664286G>T	TOPMed
PRRX1	P54821	p.Asn24His	rs750366855	missense variant	-	NC_000001.11:g.170664288A>C	ExAC,gnomAD
PRRX1	P54821	p.Thr27Ile	rs1355740920	missense variant	-	NC_000001.11:g.170664298C>T	gnomAD
PRRX1	P54821	p.Ala30Glu	rs1213848347	missense variant	-	NC_000001.11:g.170664307C>A	gnomAD
PRRX1	P54821	p.Lys31Ile	rs1315825158	missense variant	-	NC_000001.11:g.170664310A>T	gnomAD
PRRX1	P54821	p.Lys32Asn	rs1262486932	missense variant	-	NC_000001.11:g.170664314G>T	gnomAD
PRRX1	P54821	p.Asn33Lys	rs766353805	missense variant	-	NC_000001.11:g.170664317C>A	ExAC,gnomAD
PRRX1	P54821	p.Asn33Lys	rs766353805	missense variant	-	NC_000001.11:g.170664317C>G	ExAC,gnomAD
PRRX1	P54821	p.Ser35Cys	rs373448980	missense variant	-	NC_000001.11:g.170664322C>G	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Ser35Phe	rs373448980	missense variant	-	NC_000001.11:g.170664322C>T	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Val36Phe	COSM4912091	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170664324G>T	NCI-TCGA Cosmic
PRRX1	P54821	p.Ser37Gly	rs1486095295	missense variant	-	NC_000001.11:g.170664327A>G	gnomAD
PRRX1	P54821	p.Glu43Gly	rs1160454259	missense variant	-	NC_000001.11:g.170664346A>G	gnomAD
PRRX1	P54821	p.Glu43Lys	rs753011444	missense variant	-	NC_000001.11:g.170664345G>A	ExAC,gnomAD
PRRX1	P54821	p.Glu44Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170664349A>G	NCI-TCGA
PRRX1	P54821	p.Asp47Asn	rs1464830991	missense variant	-	NC_000001.11:g.170664357G>A	gnomAD
PRRX1	P54821	p.Met48Leu	rs945516523	missense variant	-	NC_000001.11:g.170664360A>C	gnomAD
PRRX1	P54821	p.Met48Ile	rs1376467098	missense variant	-	NC_000001.11:g.170664362G>A	gnomAD
PRRX1	P54821	p.Met48Lys	rs758738720	missense variant	-	NC_000001.11:g.170664361T>A	ExAC,gnomAD
PRRX1	P54821	p.Val49Gly	rs1441023849	missense variant	-	NC_000001.11:g.170664364T>G	TOPMed
PRRX1	P54821	p.Ala51Val	rs1371971212	missense variant	-	NC_000001.11:g.170664370C>T	gnomAD
PRRX1	P54821	p.Ala51Thr	rs1305797582	missense variant	-	NC_000001.11:g.170664369G>A	TOPMed,gnomAD
PRRX1	P54821	p.Ala51Ser	rs1305797582	missense variant	-	NC_000001.11:g.170664369G>T	TOPMed,gnomAD
PRRX1	P54821	p.Ala53Thr	rs1309024586	missense variant	-	NC_000001.11:g.170664375G>A	gnomAD
PRRX1	P54821	p.Asp54His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170664378G>C	NCI-TCGA
PRRX1	P54821	p.Glu55Lys	rs1465629020	missense variant	-	NC_000001.11:g.170664381G>A	TOPMed
PRRX1	P54821	p.Asn56Lys	rs370202431	missense variant	-	NC_000001.11:g.170664386C>A	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Val57Met	rs748836293	missense variant	-	NC_000001.11:g.170664387G>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Val57Leu	rs748836293	missense variant	-	NC_000001.11:g.170664387G>C	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Gly58Ser	rs1406921492	missense variant	-	NC_000001.11:g.170664390G>A	TOPMed
PRRX1	P54821	p.Glu59Lys	rs1213289345	missense variant	-	NC_000001.11:g.170664393G>A	gnomAD
PRRX1	P54821	p.Gly61Ala	rs932931451	missense variant	-	NC_000001.11:g.170664400G>C	TOPMed,gnomAD
PRRX1	P54821	p.Arg62Gln	rs74674242	missense variant	-	NC_000001.11:g.170664403G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg62Trp	rs570603113	missense variant	-	NC_000001.11:g.170664402C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Ser63Asn	rs547151958	missense variant	-	NC_000001.11:g.170664406G>A	1000Genomes,ExAC,gnomAD
PRRX1	P54821	p.Leu64Pro	rs1458232191	missense variant	-	NC_000001.11:g.170664409T>C	TOPMed
PRRX1	P54821	p.Ser67Leu	rs753817917	missense variant	-	NC_000001.11:g.170664418C>T	ExAC
PRRX1	P54821	p.Pro68Gln	rs1353607741	missense variant	-	NC_000001.11:g.170664421C>A	gnomAD
PRRX1	P54821	p.Gly69Glu	rs201153811	missense variant	-	NC_000001.11:g.170664424G>A	1000Genomes,ExAC,gnomAD
PRRX1	P54821	p.Thr71Ile	rs1439996918	missense variant	-	NC_000001.11:g.170664430C>T	gnomAD
PRRX1	P54821	p.Ser74Asn	rs1054346061	missense variant	-	NC_000001.11:g.170664439G>A	TOPMed
PRRX1	P54821	p.Thr76Ser	rs1372893101	missense variant	-	NC_000001.11:g.170664445C>G	gnomAD
PRRX1	P54821	p.Thr76Asn	rs1372893101	missense variant	-	NC_000001.11:g.170664445C>A	gnomAD
PRRX1	P54821	p.Gln78Glu	rs575268204	missense variant	-	NC_000001.11:g.170664450C>G	1000Genomes,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Gln78Lys	rs575268204	missense variant	-	NC_000001.11:g.170664450C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Gln78Arg	rs970789095	missense variant	-	NC_000001.11:g.170664451A>G	TOPMed
PRRX1	P54821	p.Gln79His	rs200693185	missense variant	-	NC_000001.11:g.170664455G>C	1000Genomes,ExAC,gnomAD
PRRX1	P54821	p.Asp80Asn	rs1323852736	missense variant	-	NC_000001.11:g.170664456G>A	TOPMed
PRRX1	P54821	p.Asp82Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170719730C>G	NCI-TCGA
PRRX1	P54821	p.Ser86Leu	COSM4837885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170719741C>T	NCI-TCGA Cosmic
PRRX1	P54821	p.Glu88Gly	rs944046701	missense variant	-	NC_000001.11:g.170719747A>G	TOPMed,gnomAD
PRRX1	P54821	p.Lys90Ter	RCV000043529	frameshift	Dysgnathia complex (AGOTC)	NC_000001.11:g.170719753del	ClinVar
PRRX1	P54821	p.Lys90Asn	rs1218432646	missense variant	-	NC_000001.11:g.170719754G>T	TOPMed,gnomAD
PRRX1	P54821	p.Lys90Arg	rs79567938	missense variant	-	NC_000001.11:g.170719753A>G	ESP
PRRX1	P54821	p.Arg92Ter	RCV000043530	frameshift	Dysgnathia complex (AGOTC)	NC_000001.11:g.170719750_170719753dup	ClinVar
PRRX1	P54821	p.Arg92Ile	rs147354859	missense variant	-	NC_000001.11:g.170719759G>T	ESP,ExAC
PRRX1	P54821	p.Lys93Asn	rs374406599	missense variant	-	NC_000001.11:g.170719763G>T	ESP,TOPMed
PRRX1	P54821	p.Gln94Ter	COSM1583734	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.170719764C>T	NCI-TCGA Cosmic
PRRX1	P54821	p.Arg95Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170719768G>T	NCI-TCGA
PRRX1	P54821	p.Arg95Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.170719767C>T	NCI-TCGA
PRRX1	P54821	p.Arg95Gln	rs1485111813	missense variant	-	NC_000001.11:g.170719768G>A	TOPMed,gnomAD
PRRX1	P54821	p.Arg96Met	rs1172618535	missense variant	-	NC_000001.11:g.170719771G>T	TOPMed
PRRX1	P54821	p.Asn102Ser	rs1157912949	missense variant	-	NC_000001.11:g.170719789A>G	gnomAD
PRRX1	P54821	p.Ser104Gly	rs75715275	missense variant	-	NC_000001.11:g.170719794A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Gln105His	rs536563046	missense variant	-	NC_000001.11:g.170719799G>C	TOPMed
PRRX1	P54821	p.Ala108Val	rs1414329830	missense variant	-	NC_000001.11:g.170719807C>T	TOPMed,gnomAD
PRRX1	P54821	p.Arg111Cys	rs761985508	missense variant	-	NC_000001.11:g.170719815C>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg111His	rs767923329	missense variant	-	NC_000001.11:g.170719816G>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Phe113Ser	rs387906667	missense variant	Agnathia-otocephaly complex (AGOTC)	NC_000001.11:g.170719822T>C	UniProt,dbSNP
PRRX1	P54821	p.Phe113Ser	VAR_066414	missense variant	Agnathia-otocephaly complex (AGOTC)	NC_000001.11:g.170719822T>C	UniProt
PRRX1	P54821	p.Phe113Ser	rs387906667	missense variant	-	NC_000001.11:g.170719822T>C	-
PRRX1	P54821	p.Phe113Ser	RCV000022701	missense variant	Dysgnathia complex (AGOTC)	NC_000001.11:g.170719822T>C	ClinVar
PRRX1	P54821	p.Glu114Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170719824G>C	NCI-TCGA
PRRX1	P54821	p.Glu114Lys	COSM1295466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170719824G>A	NCI-TCGA Cosmic
PRRX1	P54821	p.Arg115Trp	rs756620309	missense variant	-	NC_000001.11:g.170719827C>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg115Gln	rs1400715118	missense variant	-	NC_000001.11:g.170719828G>A	gnomAD
PRRX1	P54821	p.His117Gln	rs752202563	missense variant	-	NC_000001.11:g.170719835C>A	ExAC,gnomAD
PRRX1	P54821	p.His117Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170719833C>T	NCI-TCGA
PRRX1	P54821	p.Pro119Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170719840C>G	NCI-TCGA
PRRX1	P54821	p.Ala121Gly	rs931929789	missense variant	-	NC_000001.11:g.170719846C>G	TOPMed
PRRX1	P54821	p.Ala121Asp	COSM1583733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170719846C>A	NCI-TCGA Cosmic
PRRX1	P54821	p.Val123Ala	rs1282088171	missense variant	-	NC_000001.11:g.170719852T>C	TOPMed,gnomAD
PRRX1	P54821	p.Arg124Ter	rs1435541934	stop gained	-	NC_000001.11:g.170719854C>T	gnomAD
PRRX1	P54821	p.Glu125LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.170719856A>-	NCI-TCGA
PRRX1	P54821	p.Leu127Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170719863C>A	NCI-TCGA
PRRX1	P54821	p.Leu127Val	COSM1146036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170719863C>G	NCI-TCGA Cosmic
PRRX1	P54821	p.Arg129His	rs780981143	missense variant	-	NC_000001.11:g.170719870G>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg129Cys	rs756917059	missense variant	-	NC_000001.11:g.170719869C>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg129Leu	rs780981143	missense variant	-	NC_000001.11:g.170719870G>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg129Gly	rs756917059	missense variant	-	NC_000001.11:g.170719869C>G	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg130Gln	rs747075971	missense variant	-	NC_000001.11:g.170719873G>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg130Gly	rs1471089409	missense variant	-	NC_000001.11:g.170719872C>G	gnomAD
PRRX1	P54821	p.Glu135Ala	rs774365443	missense variant	-	NC_000001.11:g.170719888A>C	ExAC,gnomAD
PRRX1	P54821	p.Val138Gly	rs1336441834	missense variant	-	NC_000001.11:g.170719897T>G	gnomAD
PRRX1	P54821	p.Phe142Leu	COSM1134763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726226T>C	NCI-TCGA Cosmic
PRRX1	P54821	p.Gln143Ter	COSM4835040	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.170726229C>T	NCI-TCGA Cosmic
PRRX1	P54821	p.Asn144Lys	COSM6122786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726234C>A	NCI-TCGA Cosmic
PRRX1	P54821	p.Arg145Gln	rs1270473736	missense variant	-	NC_000001.11:g.170726236G>A	gnomAD
PRRX1	P54821	p.Ala147Thr	rs1340836613	missense variant	-	NC_000001.11:g.170726241G>A	gnomAD
PRRX1	P54821	p.Lys148Thr	rs1272026144	missense variant	-	NC_000001.11:g.170726245A>C	gnomAD
PRRX1	P54821	p.Lys148Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170726245A>G	NCI-TCGA
PRRX1	P54821	p.Phe149Leu	rs1468821005	missense variant	-	NC_000001.11:g.170726247T>C	gnomAD
PRRX1	P54821	p.Arg150Cys	rs1191024290	missense variant	-	NC_000001.11:g.170726250C>T	TOPMed
PRRX1	P54821	p.Glu153Gln	COSM6059636	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726259G>C	NCI-TCGA Cosmic
PRRX1	P54821	p.Ala155Thr	rs773280049	missense variant	-	NC_000001.11:g.170726265G>A	ExAC,gnomAD
PRRX1	P54821	p.Met156Val	rs147184063	missense variant	-	NC_000001.11:g.170726268A>G	ESP,ExAC,TOPMed
PRRX1	P54821	p.Met156Thr	rs771417715	missense variant	-	NC_000001.11:g.170726269T>C	ExAC,gnomAD
PRRX1	P54821	p.Met156Leu	rs147184063	missense variant	-	NC_000001.11:g.170726268A>T	ESP,ExAC,TOPMed
PRRX1	P54821	p.Met156Ile	rs777193663	missense variant	-	NC_000001.11:g.170726270G>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Met156Ile	rs777193663	missense variant	-	NC_000001.11:g.170726270G>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Leu157Ile	COSM284305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726271C>A	NCI-TCGA Cosmic
PRRX1	P54821	p.Ala158Thr	rs149731143	missense variant	-	NC_000001.11:g.170726274G>A	ESP,TOPMed,gnomAD
PRRX1	P54821	p.Asn161Lys	rs751042611	missense variant	-	NC_000001.11:g.170726285C>A	ExAC,gnomAD
PRRX1	P54821	p.Ala162Thr	rs761253714	missense variant	-	NC_000001.11:g.170726286G>A	ExAC,gnomAD
PRRX1	P54821	p.Ala162Pro	rs761253714	missense variant	-	NC_000001.11:g.170726286G>C	ExAC,gnomAD
PRRX1	P54821	p.Ala162Val	rs1352996112	missense variant	-	NC_000001.11:g.170726287C>T	TOPMed
PRRX1	P54821	p.Ser163Phe	COSM3478166	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726290C>T	NCI-TCGA Cosmic
PRRX1	P54821	p.Leu164Ile	rs767104891	missense variant	-	NC_000001.11:g.170726292C>A	ExAC,gnomAD
PRRX1	P54821	p.Leu165Ile	rs1241390485	missense variant	-	NC_000001.11:g.170726295C>A	TOPMed
PRRX1	P54821	p.Leu165His	rs755834640	missense variant	-	NC_000001.11:g.170726296T>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Ser167Cys	rs753649456	missense variant	-	NC_000001.11:g.170726302C>G	ExAC,gnomAD
PRRX1	P54821	p.Ser167Thr	rs1341946248	missense variant	-	NC_000001.11:g.170726301T>A	gnomAD
PRRX1	P54821	p.Ser167Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170726302C>T	NCI-TCGA
PRRX1	P54821	p.Tyr168Ser	rs201661471	missense variant	-	NC_000001.11:g.170726305A>C	TOPMed
PRRX1	P54821	p.Gly170Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170726311G>C	NCI-TCGA
PRRX1	P54821	p.Gly170Arg	rs1292072443	missense variant	-	NC_000001.11:g.170726310G>A	gnomAD
PRRX1	P54821	p.Asp171Glu	rs374262561	missense variant	-	NC_000001.11:g.170726315C>G	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Val172Met	rs1246892874	missense variant	-	NC_000001.11:g.170726316G>A	gnomAD
PRRX1	P54821	p.Val172Leu	COSM1146037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726316G>T	NCI-TCGA Cosmic
PRRX1	P54821	p.Ala174Thr	rs748163693	missense variant	-	NC_000001.11:g.170726322G>A	ExAC,gnomAD
PRRX1	P54821	p.Val175Leu	rs201365132	missense variant	-	NC_000001.11:g.170726325G>T	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Val175Met	rs201365132	missense variant	-	NC_000001.11:g.170726325G>A	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Glu176Gln	rs747220791	missense variant	-	NC_000001.11:g.170726328G>C	ExAC,gnomAD
PRRX1	P54821	p.Glu176Lys	rs747220791	missense variant	-	NC_000001.11:g.170726328G>A	ExAC,gnomAD
PRRX1	P54821	p.Glu176Asp	COSM1583731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726330G>T	NCI-TCGA Cosmic
PRRX1	P54821	p.Gln177Glu	rs771291245	missense variant	-	NC_000001.11:g.170726331C>G	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Pro178Leu	rs1475611608	missense variant	-	NC_000001.11:g.170726335C>T	gnomAD
PRRX1	P54821	p.Ile179Val	rs1167505948	missense variant	-	NC_000001.11:g.170726337A>G	TOPMed,gnomAD
PRRX1	P54821	p.Val180Ala	COSM4025023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726341T>C	NCI-TCGA Cosmic
PRRX1	P54821	p.Val180Ile	COSM1336163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726340G>A	NCI-TCGA Cosmic
PRRX1	P54821	p.Arg182Pro	rs746264594	missense variant	-	NC_000001.11:g.170726347G>C	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg182His	rs746264594	missense variant	-	NC_000001.11:g.170726347G>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Arg182Cys	rs1453716808	missense variant	-	NC_000001.11:g.170726346C>T	gnomAD
PRRX1	P54821	p.Pro183His	COSM6059632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726350C>A	NCI-TCGA Cosmic
PRRX1	P54821	p.Pro185Leu	rs770288919	missense variant	-	NC_000001.11:g.170726356C>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Pro185Gln	rs770288919	missense variant	-	NC_000001.11:g.170726356C>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Pro187Leu	rs1397318312	missense variant	-	NC_000001.11:g.170726362C>T	gnomAD
PRRX1	P54821	p.Pro187Ser	rs766933694	missense variant	-	NC_000001.11:g.170726361C>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Pro187Ala	rs766933694	missense variant	-	NC_000001.11:g.170726361C>G	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Pro187Thr	rs766933694	missense variant	-	NC_000001.11:g.170726361C>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Asp189Asn	rs372098442	missense variant	-	NC_000001.11:g.170726367G>A	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Leu191Phe	COSM4893985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726373C>T	NCI-TCGA Cosmic
PRRX1	P54821	p.Ser192Cys	rs1171806058	missense variant	-	NC_000001.11:g.170726377C>G	gnomAD
PRRX1	P54821	p.Trp193Ter	COSM1472972	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.170726381G>A	NCI-TCGA Cosmic
PRRX1	P54821	p.Gly194Arg	rs760267315	missense variant	-	NC_000001.11:g.170726382G>C	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Gly194Glu	rs766027745	missense variant	-	NC_000001.11:g.170726383G>A	ExAC,gnomAD
PRRX1	P54821	p.Thr195Arg	rs1423298383	missense variant	-	NC_000001.11:g.170726386C>G	TOPMed,gnomAD
PRRX1	P54821	p.Thr195Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170726386C>A	NCI-TCGA
PRRX1	P54821	p.Ala196Gly	rs765116280	missense variant	-	NC_000001.11:g.170726389C>G	ExAC,gnomAD
PRRX1	P54821	p.Ala196Glu	rs765116280	missense variant	-	NC_000001.11:g.170726389C>A	ExAC,gnomAD
PRRX1	P54821	p.Ala196Val	COSM1133889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.170726389C>T	NCI-TCGA Cosmic
PRRX1	P54821	p.Ser197Phe	rs1483603880	missense variant	-	NC_000001.11:g.170726392C>T	gnomAD
PRRX1	P54821	p.Pro198Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170726395C>G	NCI-TCGA
PRRX1	P54821	p.Pro198Leu	rs1464419142	missense variant	-	NC_000001.11:g.170726395C>T	TOPMed,gnomAD
PRRX1	P54821	p.Ser200Arg	rs151333816	missense variant	-	NC_000001.11:g.170736048C>A	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Ala201Thr	rs755301434	missense variant	-	NC_000001.11:g.170736049G>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Met202Thr	rs1182355391	missense variant	-	NC_000001.11:g.170736053T>C	gnomAD
PRRX1	P54821	p.Tyr205Cys	rs368848007	missense variant	-	NC_000001.11:g.170736062A>G	ESP,TOPMed,gnomAD
PRRX1	P54821	p.Ser206Pro	rs748638512	missense variant	-	NC_000001.11:g.170736064T>C	ExAC,gnomAD
PRRX1	P54821	p.Ala207Val	rs1360944632	missense variant	-	NC_000001.11:g.170736068C>T	gnomAD
PRRX1	P54821	p.Ala210Thr	rs1353625176	missense variant	-	NC_000001.11:g.170736076G>A	gnomAD
PRRX1	P54821	p.Asn212His	rs373373102	missense variant	-	NC_000001.11:g.170736082A>C	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Asn212Ser	rs775185451	missense variant	-	NC_000001.11:g.170736083A>G	ExAC,gnomAD
PRRX1	P54821	p.Ser213Arg	rs531624636	missense variant	-	NC_000001.11:g.170736087C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Ser213Gly	rs762735513	missense variant	-	NC_000001.11:g.170736085A>G	ExAC,gnomAD
PRRX1	P54821	p.Pro214His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170736089C>A	NCI-TCGA
PRRX1	P54821	p.Pro214Ser	rs140550541	missense variant	-	NC_000001.11:g.170736088C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Ala215Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170736092C>T	NCI-TCGA
PRRX1	P54821	p.Gln216Pro	rs1374699350	missense variant	-	NC_000001.11:g.170736095A>C	TOPMed
PRRX1	P54821	p.Gly217Val	rs761785582	missense variant	-	NC_000001.11:g.170736098G>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Gly217Asp	rs761785582	missense variant	-	NC_000001.11:g.170736098G>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Ile218Thr	rs1460822653	missense variant	-	NC_000001.11:g.170736101T>C	TOPMed
PRRX1	P54821	p.Asn219Asp	rs1297444584	missense variant	-	NC_000001.11:g.170736103A>G	TOPMed,gnomAD
PRRX1	P54821	p.Met220Arg	rs760835136	missense variant	-	NC_000001.11:g.170736107T>G	ExAC,gnomAD
PRRX1	P54821	p.Ala221Thr	rs766421515	missense variant	-	NC_000001.11:g.170736109G>A	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Ala221Ser	rs766421515	missense variant	-	NC_000001.11:g.170736109G>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Ser223Asn	rs754082400	missense variant	-	NC_000001.11:g.170736116G>A	ExAC,gnomAD
PRRX1	P54821	p.Ala225Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170736121G>C	NCI-TCGA
PRRX1	P54821	p.Asn226Asp	rs1338416766	missense variant	-	NC_000001.11:g.170736124A>G	gnomAD
PRRX1	P54821	p.Leu227Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170736128T>A	NCI-TCGA
PRRX1	P54821	p.Lys230Asn	rs1176551020	missense variant	-	NC_000001.11:g.170736138G>T	gnomAD
PRRX1	P54821	p.Glu233Lys	rs755246526	missense variant	-	NC_000001.11:g.170736145G>A	ExAC
PRRX1	P54821	p.Tyr234Cys	rs765524769	missense variant	-	NC_000001.11:g.170736149A>G	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Gln237Ter	rs1160655825	stop gained	-	NC_000001.11:g.170736157C>T	gnomAD
PRRX1	P54821	p.Arg238Met	rs758861054	missense variant	-	NC_000001.11:g.170736161G>T	ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Gln240His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.170736168G>T	NCI-TCGA
PRRX1	P54821	p.Val241Leu	rs1334855472	missense variant	-	NC_000001.11:g.170736169G>T	gnomAD
PRRX1	P54821	p.Pro242Ser	rs201359953	missense variant	-	NC_000001.11:g.170736172C>T	ESP,ExAC,TOPMed,gnomAD
PRRX1	P54821	p.Thr243Arg	rs1341271119	missense variant	-	NC_000001.11:g.170736176C>G	gnomAD
GAS1	P54826	p.Ala3Val	rs1218187902	missense variant	-	NC_000009.12:g.86946772G>A	TOPMed,gnomAD
GAS1	P54826	p.Ala4Thr	rs1488388762	missense variant	-	NC_000009.12:g.86946770C>T	TOPMed,gnomAD
GAS1	P54826	p.Leu6Val	rs902885236	missense variant	-	NC_000009.12:g.86946764G>C	TOPMed,gnomAD
GAS1	P54826	p.Gly8Ser	rs1244207601	missense variant	-	NC_000009.12:g.86946758C>T	gnomAD
GAS1	P54826	p.Gly9Val	rs1023936786	missense variant	-	NC_000009.12:g.86946754C>A	TOPMed,gnomAD
GAS1	P54826	p.Glu11Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.86946749C>A	NCI-TCGA
GAS1	P54826	p.Glu11Gly	rs1352692407	missense variant	-	NC_000009.12:g.86946748T>C	TOPMed
GAS1	P54826	p.Ala12Val	rs1055916094	missense variant	-	NC_000009.12:g.86946745G>A	TOPMed,gnomAD
GAS1	P54826	p.Arg13Pro	rs941573406	missense variant	-	NC_000009.12:g.86946742C>G	TOPMed,gnomAD
GAS1	P54826	p.Gly14Val	rs1361845958	missense variant	-	NC_000009.12:g.86946739C>A	TOPMed,gnomAD
GAS1	P54826	p.Gly14Arg	rs1325223940	missense variant	-	NC_000009.12:g.86946740C>T	gnomAD
GAS1	P54826	p.Gly15Arg	rs746167176	missense variant	-	NC_000009.12:g.86946737C>T	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Gly15Glu	rs1051215514	missense variant	-	NC_000009.12:g.86946736C>T	gnomAD
GAS1	P54826	p.Thr16Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.86946733G>T	NCI-TCGA
GAS1	P54826	p.Thr16Ile	rs1400733341	missense variant	-	NC_000009.12:g.86946733G>A	gnomAD
GAS1	P54826	p.Pro18Ser	rs1346605821	missense variant	-	NC_000009.12:g.86946728G>A	TOPMed
GAS1	P54826	p.Pro18Leu	rs1437660315	missense variant	-	NC_000009.12:g.86946727G>A	gnomAD
GAS1	P54826	p.Leu22Met	rs1301589881	missense variant	-	NC_000009.12:g.86946716G>T	gnomAD
GAS1	P54826	p.Leu24Val	rs1293801374	missense variant	-	NC_000009.12:g.86946710G>C	TOPMed
GAS1	P54826	p.Ser33Leu	rs1320726884	missense variant	-	NC_000009.12:g.86946682G>A	TOPMed,gnomAD
GAS1	P54826	p.Ala34Val	rs934239304	missense variant	-	NC_000009.12:g.86946679G>A	TOPMed
GAS1	P54826	p.Pro35Arg	rs779176912	missense variant	-	NC_000009.12:g.86946676G>C	ExAC,gnomAD
GAS1	P54826	p.Arg36Trp	rs1477888822	missense variant	-	NC_000009.12:g.86946674G>A	TOPMed,gnomAD
GAS1	P54826	p.Arg36Pro	rs1267714849	missense variant	-	NC_000009.12:g.86946673C>G	TOPMed,gnomAD
GAS1	P54826	p.Arg36Gln	rs1267714849	missense variant	-	NC_000009.12:g.86946673C>T	TOPMed,gnomAD
GAS1	P54826	p.Gly37Val	rs1430288821	missense variant	-	NC_000009.12:g.86946670C>A	TOPMed
GAS1	P54826	p.Ala41Val	rs1452978295	missense variant	-	NC_000009.12:g.86946658G>A	gnomAD
GAS1	P54826	p.His42Arg	rs1290964158	missense variant	-	NC_000009.12:g.86946655T>C	gnomAD
GAS1	P54826	p.His42Gln	rs1195620086	missense variant	-	NC_000009.12:g.86946654G>C	TOPMed,gnomAD
GAS1	P54826	p.Gly43Ser	rs1337981800	missense variant	-	NC_000009.12:g.86946653C>T	gnomAD
GAS1	P54826	p.Arg44Cys	rs1365818087	missense variant	-	NC_000009.12:g.86946650G>A	TOPMed
GAS1	P54826	p.Arg44His	rs1219315557	missense variant	-	NC_000009.12:g.86946649C>T	TOPMed,gnomAD
GAS1	P54826	p.Arg45Gly	rs922820794	missense variant	-	NC_000009.12:g.86946647G>C	TOPMed,gnomAD
GAS1	P54826	p.Leu46Phe	rs1438800108	missense variant	-	NC_000009.12:g.86946644G>A	gnomAD
GAS1	P54826	p.Leu46Arg	rs1166261618	missense variant	-	NC_000009.12:g.86946643A>C	gnomAD
GAS1	P54826	p.Ile47Phe	rs1418656911	missense variant	-	NC_000009.12:g.86946641T>A	TOPMed,gnomAD
GAS1	P54826	p.Ile47Leu	rs1418656911	missense variant	-	NC_000009.12:g.86946641T>G	TOPMed,gnomAD
GAS1	P54826	p.Ile47Thr	rs1292539022	missense variant	-	NC_000009.12:g.86946640A>G	TOPMed
GAS1	P54826	p.Ala51Val	rs1323927695	missense variant	-	NC_000009.12:g.86946628G>A	gnomAD
GAS1	P54826	p.Leu53Val	rs1409202005	missense variant	-	NC_000009.12:g.86946623G>C	gnomAD
GAS1	P54826	p.Gly57Trp	rs1451036525	missense variant	-	NC_000009.12:g.86946611C>A	TOPMed,gnomAD
GAS1	P54826	p.Glu58Ter	rs1465687278	stop gained	-	NC_000009.12:g.86946608C>A	gnomAD
GAS1	P54826	p.Glu58Asp	rs976798250	missense variant	-	NC_000009.12:g.86946606C>A	TOPMed,gnomAD
GAS1	P54826	p.Glu60Gln	rs748874081	missense variant	-	NC_000009.12:g.86946602C>G	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Glu60Lys	rs748874081	missense variant	-	NC_000009.12:g.86946602C>T	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Glu60Ala	rs1418749353	missense variant	-	NC_000009.12:g.86946601T>G	TOPMed
GAS1	P54826	p.Asn66Tyr	rs1431946935	missense variant	-	NC_000009.12:g.86946584T>A	TOPMed
GAS1	P54826	p.Tyr68Ser	rs1302561777	missense variant	-	NC_000009.12:g.86946577T>G	TOPMed
GAS1	P54826	p.Ala69Ser	rs1260544074	missense variant	-	NC_000009.12:g.86946575C>A	TOPMed,gnomAD
GAS1	P54826	p.Ala69Pro	rs1260544074	missense variant	-	NC_000009.12:g.86946575C>G	TOPMed,gnomAD
GAS1	P54826	p.Glu70Gln	rs1323465801	missense variant	-	NC_000009.12:g.86946572C>G	gnomAD
GAS1	P54826	p.Cys72Ser	rs777526325	missense variant	-	NC_000009.12:g.86946565C>G	ExAC,gnomAD
GAS1	P54826	p.Ala73Glu	rs1221050677	missense variant	-	NC_000009.12:g.86946562G>T	gnomAD
GAS1	P54826	p.Pro74Leu	rs568303782	missense variant	-	NC_000009.12:g.86946559G>A	1000Genomes,TOPMed,gnomAD
GAS1	P54826	p.Pro74Arg	rs568303782	missense variant	-	NC_000009.12:g.86946559G>C	1000Genomes,TOPMed,gnomAD
GAS1	P54826	p.Val75Met	rs1459945620	missense variant	-	NC_000009.12:g.86946557C>T	TOPMed
GAS1	P54826	p.Leu76Val	rs1032793536	missense variant	-	NC_000009.12:g.86946554G>C	TOPMed,gnomAD
GAS1	P54826	p.Ala77Thr	rs1469167397	missense variant	-	NC_000009.12:g.86946551C>T	TOPMed
GAS1	P54826	p.Ala77Pro	rs1469167397	missense variant	-	NC_000009.12:g.86946551C>G	TOPMed
GAS1	P54826	p.Ala77Glu	rs1374473470	missense variant	-	NC_000009.12:g.86946550G>T	gnomAD
GAS1	P54826	p.Gly80Ala	rs755684527	missense variant	-	NC_000009.12:g.86946541C>G	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Gly80Ser	rs1271427940	missense variant	-	NC_000009.12:g.86946542C>T	gnomAD
GAS1	P54826	p.Gly82Ser	rs1303109897	missense variant	-	NC_000009.12:g.86946536C>T	TOPMed,gnomAD
GAS1	P54826	p.Gly82Asp	rs1173303864	missense variant	-	NC_000009.12:g.86946535C>T	gnomAD
GAS1	P54826	p.Asp83Glu	rs781205733	missense variant	-	NC_000009.12:g.86946531G>C	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Asp83Tyr	rs1415730292	missense variant	-	NC_000009.12:g.86946533C>A	TOPMed,gnomAD
GAS1	P54826	p.Asp83Asn	rs1415730292	missense variant	-	NC_000009.12:g.86946533C>T	TOPMed,gnomAD
GAS1	P54826	p.Asp83His	rs1415730292	missense variant	-	NC_000009.12:g.86946533C>G	TOPMed,gnomAD
GAS1	P54826	p.Gly86Arg	rs754995675	missense variant	-	NC_000009.12:g.86946524C>T	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Ala87Asp	rs1282456773	missense variant	-	NC_000009.12:g.86946520G>T	TOPMed
GAS1	P54826	p.Ala87Val	rs1282456773	missense variant	-	NC_000009.12:g.86946520G>A	TOPMed
GAS1	P54826	p.Ala87Thr	rs1013928267	missense variant	-	NC_000009.12:g.86946521C>T	TOPMed,gnomAD
GAS1	P54826	p.Ala87Ser	rs1013928267	missense variant	-	NC_000009.12:g.86946521C>A	TOPMed,gnomAD
GAS1	P54826	p.Ala88Thr	rs1240348643	missense variant	-	NC_000009.12:g.86946518C>T	TOPMed,gnomAD
GAS1	P54826	p.Ala89Thr	rs1201859811	missense variant	-	NC_000009.12:g.86946515C>T	TOPMed
GAS1	P54826	p.Ala89Pro	rs1201859811	missense variant	-	NC_000009.12:g.86946515C>G	TOPMed
GAS1	P54826	p.Ala90Ser	rs1236278230	missense variant	-	NC_000009.12:g.86946512C>A	TOPMed,gnomAD
GAS1	P54826	p.Ala90Thr	rs1236278230	missense variant	-	NC_000009.12:g.86946512C>T	TOPMed,gnomAD
GAS1	P54826	p.Ala90Val	rs1427719389	missense variant	-	NC_000009.12:g.86946511G>A	TOPMed
GAS1	P54826	p.Ala91Thr	rs1312910961	missense variant	-	NC_000009.12:g.86946509C>T	TOPMed,gnomAD
GAS1	P54826	p.Ala91Val	rs1396419913	missense variant	-	NC_000009.12:g.86946508G>A	TOPMed
GAS1	P54826	p.Ala91Pro	rs1312910961	missense variant	-	NC_000009.12:g.86946509C>G	TOPMed,gnomAD
GAS1	P54826	p.Pro93Leu	rs1283824513	missense variant	-	NC_000009.12:g.86946502G>A	gnomAD
GAS1	P54826	p.Ala94Val	rs888648250	missense variant	-	NC_000009.12:g.86946499G>A	TOPMed
GAS1	P54826	p.Ser95Trp	rs766061802	missense variant	-	NC_000009.12:g.86946496G>C	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Ser95Leu	rs766061802	missense variant	-	NC_000009.12:g.86946496G>A	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Ala96Val	rs1447297488	missense variant	-	NC_000009.12:g.86946493G>A	gnomAD
GAS1	P54826	p.Ala96Thr	rs1311119475	missense variant	-	NC_000009.12:g.86946494C>T	gnomAD
GAS1	P54826	p.Ala97Ser	rs1301076077	missense variant	-	NC_000009.12:g.86946491C>A	TOPMed,gnomAD
GAS1	P54826	p.Ala97Thr	rs1301076077	missense variant	-	NC_000009.12:g.86946491C>T	TOPMed,gnomAD
GAS1	P54826	p.Ser98Phe	rs1449575282	missense variant	-	NC_000009.12:g.86946487G>A	gnomAD
GAS1	P54826	p.Ser100Pro	rs901428369	missense variant	-	NC_000009.12:g.86946482A>G	TOPMed
GAS1	P54826	p.Ser100Leu	rs1359167957	missense variant	-	NC_000009.12:g.86946481G>A	TOPMed,gnomAD
GAS1	P54826	p.Ser100Trp	rs1359167957	missense variant	-	NC_000009.12:g.86946481G>C	TOPMed,gnomAD
GAS1	P54826	p.Trp103Cys	rs762845548	missense variant	-	NC_000009.12:g.86946471C>G	ExAC,gnomAD
GAS1	P54826	p.Arg104His	rs1159601806	missense variant	-	NC_000009.12:g.86946469C>T	gnomAD
GAS1	P54826	p.Cys105Tyr	rs1444462168	missense variant	-	NC_000009.12:g.86946466C>T	gnomAD
GAS1	P54826	p.Pro106Arg	rs1184183811	missense variant	-	NC_000009.12:g.86946463G>C	gnomAD
GAS1	P54826	p.Ser107Asn	rs1483868630	missense variant	-	NC_000009.12:g.86946460C>T	gnomAD
GAS1	P54826	p.Cys109Tyr	rs1241534196	missense variant	-	NC_000009.12:g.86946454C>T	gnomAD
GAS1	P54826	p.Ile114Val	rs1489370929	missense variant	-	NC_000009.12:g.86946440T>C	gnomAD
GAS1	P54826	p.His118Arg	rs1424108116	missense variant	-	NC_000009.12:g.86946427T>C	TOPMed
GAS1	P54826	p.His118Asp	rs1420407216	missense variant	-	NC_000009.12:g.86946428G>C	TOPMed
GAS1	P54826	p.Arg121Leu	rs760688479	missense variant	-	NC_000009.12:g.86946418C>A	ExAC,gnomAD
GAS1	P54826	p.Arg121Cys	rs764355861	missense variant	-	NC_000009.12:g.86946419G>A	ExAC,gnomAD
GAS1	P54826	p.Pro123His	rs942754517	missense variant	-	NC_000009.12:g.86946412G>T	TOPMed,gnomAD
GAS1	P54826	p.Pro123Leu	rs942754517	missense variant	-	NC_000009.12:g.86946412G>A	TOPMed,gnomAD
GAS1	P54826	p.Ala124Val	rs1301312985	missense variant	-	NC_000009.12:g.86946409G>A	TOPMed
GAS1	P54826	p.Leu125Val	rs1367711842	missense variant	-	NC_000009.12:g.86946407G>C	TOPMed
GAS1	P54826	p.Asp127Tyr	rs1424420919	missense variant	-	NC_000009.12:g.86946401C>A	gnomAD
GAS1	P54826	p.Asp129Glu	rs1348435065	missense variant	-	NC_000009.12:g.86946393G>C	gnomAD
GAS1	P54826	p.Gln132Glu	rs772529497	missense variant	-	NC_000009.12:g.86946386G>C	ExAC,gnomAD
GAS1	P54826	p.Gln132His	rs759982942	missense variant	-	NC_000009.12:g.86946384C>A	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Asp133Asn	rs1478876505	missense variant	-	NC_000009.12:g.86946383C>T	gnomAD
GAS1	P54826	p.Glu134Lys	rs774972884	missense variant	-	NC_000009.12:g.86946380C>T	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Glu134Gln	rs774972884	missense variant	-	NC_000009.12:g.86946380C>G	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Glu134Asp	rs771173456	missense variant	-	NC_000009.12:g.86946378C>G	ExAC,gnomAD
GAS1	P54826	p.Asn135Lys	rs1487634769	missense variant	-	NC_000009.12:g.86946375G>C	TOPMed,gnomAD
GAS1	P54826	p.Lys137Glu	rs1288896245	missense variant	-	NC_000009.12:g.86946371T>C	TOPMed
GAS1	P54826	p.Thr139Ile	rs749732161	missense variant	-	NC_000009.12:g.86946364G>A	ExAC,gnomAD
GAS1	P54826	p.Arg141Gly	rs924002473	missense variant	-	NC_000009.12:g.86946359G>C	TOPMed
GAS1	P54826	p.Arg141His	rs1223529596	missense variant	-	NC_000009.12:g.86946358C>T	gnomAD
GAS1	P54826	p.Ile143Thr	rs1277548531	missense variant	-	NC_000009.12:g.86946352A>G	gnomAD
GAS1	P54826	p.Glu144Gly	rs1216245443	missense variant	-	NC_000009.12:g.86946349T>C	TOPMed,gnomAD
GAS1	P54826	p.Pro145Arg	rs1278286175	missense variant	-	NC_000009.12:g.86946346G>C	gnomAD
GAS1	P54826	p.Leu147Met	rs977225070	missense variant	-	NC_000009.12:g.86946341G>T	TOPMed
GAS1	P54826	p.Arg149Trp	rs1280120201	missense variant	-	NC_000009.12:g.86946335G>A	gnomAD
GAS1	P54826	p.Thr150Arg	rs1365080461	missense variant	-	NC_000009.12:g.86946331G>C	TOPMed,gnomAD
GAS1	P54826	p.Thr150Lys	rs1365080461	missense variant	-	NC_000009.12:g.86946331G>T	TOPMed,gnomAD
GAS1	P54826	p.Thr150Met	rs1365080461	missense variant	-	NC_000009.12:g.86946331G>A	TOPMed,gnomAD
GAS1	P54826	p.Gly152Arg	rs1295614158	missense variant	-	NC_000009.12:g.86946326C>G	gnomAD
GAS1	P54826	p.Gly152Ser	rs1295614158	missense variant	-	NC_000009.12:g.86946326C>T	gnomAD
GAS1	P54826	p.Ala155Ser	rs1354450082	missense variant	-	NC_000009.12:g.86946317C>A	gnomAD
GAS1	P54826	p.Gly157Ser	rs1424351822	missense variant	-	NC_000009.12:g.86946311C>T	TOPMed,gnomAD
GAS1	P54826	p.Gly157Arg	rs1424351822	missense variant	-	NC_000009.12:g.86946311C>G	TOPMed,gnomAD
GAS1	P54826	p.Pro158Thr	rs993153385	missense variant	-	NC_000009.12:g.86946308G>T	TOPMed
GAS1	P54826	p.Pro158Arg	rs1365866741	missense variant	-	NC_000009.12:g.86946307G>C	TOPMed
GAS1	P54826	p.Pro158Leu	rs1365866741	missense variant	-	NC_000009.12:g.86946307G>A	TOPMed
GAS1	P54826	p.Pro158Ala	rs993153385	missense variant	-	NC_000009.12:g.86946308G>C	TOPMed
GAS1	P54826	p.Gly161Val	rs769586642	missense variant	-	NC_000009.12:g.86946298C>A	ExAC,gnomAD
GAS1	P54826	p.Gly162Val	rs1192681620	missense variant	-	NC_000009.12:g.86946295C>A	gnomAD
GAS1	P54826	p.Gly162Arg	rs1269782536	missense variant	-	NC_000009.12:g.86946296C>T	gnomAD
GAS1	P54826	p.Met164Arg	rs1196608625	missense variant	-	NC_000009.12:g.86946289A>C	gnomAD
GAS1	P54826	p.Thr167Ile	rs1259794190	missense variant	-	NC_000009.12:g.86946280G>A	TOPMed
GAS1	P54826	p.Arg170Trp	rs1005191877	missense variant	-	NC_000009.12:g.86946272G>A	TOPMed
GAS1	P54826	p.Arg171Gln	rs1319933422	missense variant	-	NC_000009.12:g.86946268C>T	gnomAD
GAS1	P54826	p.Arg172His	rs1258090972	missense variant	-	NC_000009.12:g.86946265C>T	gnomAD
GAS1	P54826	p.Ser177Arg	rs1387704325	missense variant	-	NC_000009.12:g.86946251T>G	gnomAD
GAS1	P54826	p.Arg178His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.86946247C>T	NCI-TCGA
GAS1	P54826	p.Asn180His	rs1329745070	missense variant	-	NC_000009.12:g.86946242T>G	TOPMed,gnomAD
GAS1	P54826	p.Ala182Val	rs1449588314	missense variant	-	NC_000009.12:g.86946235G>A	gnomAD
GAS1	P54826	p.Leu183Val	rs1464302014	missense variant	-	NC_000009.12:g.86946233G>C	TOPMed,gnomAD
GAS1	P54826	p.Ser184Arg	rs780104648	missense variant	-	NC_000009.12:g.86946228G>C	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Arg185Gly	rs1464648622	missense variant	-	NC_000009.12:g.86946227G>C	gnomAD
GAS1	P54826	p.Tyr186Ser	rs758112692	missense variant	-	NC_000009.12:g.86946223T>G	ExAC,gnomAD
GAS1	P54826	p.Tyr186Cys	rs758112692	missense variant	-	NC_000009.12:g.86946223T>C	ExAC,gnomAD
GAS1	P54826	p.Thr188Ala	rs764235371	missense variant	-	NC_000009.12:g.86946218T>C	ExAC,gnomAD
GAS1	P54826	p.Thr188Ile	rs549876121	missense variant	-	NC_000009.12:g.86946217G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAS1	P54826	p.Tyr189Cys	rs1025359669	missense variant	-	NC_000009.12:g.86946214T>C	TOPMed,gnomAD
GAS1	P54826	p.Tyr189Asp	rs1238757584	missense variant	-	NC_000009.12:g.86946215A>C	gnomAD
GAS1	P54826	p.Gly191Ser	rs1233444559	missense variant	-	NC_000009.12:g.86946209C>T	gnomAD
GAS1	P54826	p.Gly191Asp	rs1352555335	missense variant	-	NC_000009.12:g.86946208C>T	gnomAD
GAS1	P54826	p.Asn195Lys	rs759704477	missense variant	-	NC_000009.12:g.86946195G>C	ExAC,gnomAD
GAS1	P54826	p.Arg198Leu	rs1394363847	missense variant	-	NC_000009.12:g.86946187C>A	gnomAD
GAS1	P54826	p.Thr200Arg	rs387907165	missense variant	-	NC_000009.12:g.86946181G>C	ExAC,gnomAD
GAS1	P54826	p.Thr200Arg	RCV000024280	missense variant	Holoprosencephaly 1 (HPE1)	NC_000009.12:g.86946181G>C	ClinVar
GAS1	P54826	p.Asp201Val	rs994346671	missense variant	-	NC_000009.12:g.86946178T>A	TOPMed,gnomAD
GAS1	P54826	p.Glu202Lys	rs771528019	missense variant	-	NC_000009.12:g.86946176C>T	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Glu202Gln	rs771528019	missense variant	-	NC_000009.12:g.86946176C>G	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Cys203Ser	rs763173224	missense variant	-	NC_000009.12:g.86946173A>T	ExAC,gnomAD
GAS1	P54826	p.Cys203Phe	COSM6183780	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86946172C>A	NCI-TCGA Cosmic
GAS1	P54826	p.Arg204His	rs773739552	missense variant	-	NC_000009.12:g.86946169C>T	ExAC,gnomAD
GAS1	P54826	p.Arg204Leu	rs773739552	missense variant	-	NC_000009.12:g.86946169C>A	ExAC,gnomAD
GAS1	P54826	p.Val206Ile	rs1483685788	missense variant	-	NC_000009.12:g.86946164C>T	TOPMed,gnomAD
GAS1	P54826	p.Glu208Lys	COSM2155284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86946158C>T	NCI-TCGA Cosmic
GAS1	P54826	p.Glu208Gly	COSM3908658	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86946157T>C	NCI-TCGA Cosmic
GAS1	P54826	p.Asp209Gly	rs1380836972	missense variant	-	NC_000009.12:g.86946154T>C	gnomAD
GAS1	P54826	p.Met210Ile	rs1440641780	missense variant	-	NC_000009.12:g.86946150C>T	gnomAD
GAS1	P54826	p.Ala212Val	rs768276315	missense variant	-	NC_000009.12:g.86946145G>A	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Ala212Gly	rs768276315	missense variant	-	NC_000009.12:g.86946145G>C	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Met213Val	rs1202404573	missense variant	-	NC_000009.12:g.86946143T>C	TOPMed
GAS1	P54826	p.Met213Ile	rs1487738496	missense variant	-	NC_000009.12:g.86946141C>T	gnomAD
GAS1	P54826	p.Met213Leu	rs1202404573	missense variant	-	NC_000009.12:g.86946143T>G	TOPMed
GAS1	P54826	p.Lys215Asn	rs533125798	missense variant	-	NC_000009.12:g.86946135C>A	1000Genomes,ExAC,gnomAD
GAS1	P54826	p.Lys215Glu	rs1265547559	missense variant	-	NC_000009.12:g.86946137T>C	TOPMed
GAS1	P54826	p.Ala216Val	rs1354960372	missense variant	-	NC_000009.12:g.86946133G>A	gnomAD
GAS1	P54826	p.Ala217Thr	rs757093506	missense variant	-	NC_000009.12:g.86946131C>T	ExAC,gnomAD
GAS1	P54826	p.Ala217Val	rs1342809719	missense variant	-	NC_000009.12:g.86946130G>A	TOPMed,gnomAD
GAS1	P54826	p.Leu218Met	rs201726102	missense variant	-	NC_000009.12:g.86946128G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAS1	P54826	p.Asn220Lys	rs372617898	missense variant	-	NC_000009.12:g.86946120G>T	ESP,ExAC,TOPMed,gnomAD
GAS1	P54826	p.Asn220Lys	rs372617898	missense variant	-	NC_000009.12:g.86946120G>C	ESP,ExAC,TOPMed,gnomAD
GAS1	P54826	p.Asn220Asp	rs1421147281	missense variant	-	NC_000009.12:g.86946122T>C	TOPMed
GAS1	P54826	p.Asp221Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.86946118T>A	NCI-TCGA
GAS1	P54826	p.Asp221Glu	rs1420543153	missense variant	-	NC_000009.12:g.86946117G>C	gnomAD
GAS1	P54826	p.Asp221His	rs572692316	missense variant	-	NC_000009.12:g.86946119C>G	1000Genomes,ExAC,gnomAD
GAS1	P54826	p.Asp221Asn	rs572692316	missense variant	-	NC_000009.12:g.86946119C>T	1000Genomes,ExAC,gnomAD
GAS1	P54826	p.Val223Gly	rs1162453855	missense variant	-	NC_000009.12:g.86946112A>C	gnomAD
GAS1	P54826	p.Val223Leu	rs1412508990	missense variant	-	NC_000009.12:g.86946113C>G	TOPMed
GAS1	P54826	p.Leu227Phe	rs1477240562	missense variant	-	NC_000009.12:g.86946101G>A	TOPMed,gnomAD
GAS1	P54826	p.Glu228Gln	rs1218260974	missense variant	-	NC_000009.12:g.86946098C>G	gnomAD
GAS1	P54826	p.Ile231Met	rs746435777	missense variant	-	NC_000009.12:g.86946087G>C	ExAC,gnomAD
GAS1	P54826	p.Glu233Gln	rs1199108492	missense variant	-	NC_000009.12:g.86946083C>G	gnomAD
GAS1	P54826	p.Glu237Lys	rs771856590	missense variant	-	NC_000009.12:g.86946071C>T	ExAC,gnomAD
GAS1	P54826	p.Met239Thr	rs1484404740	missense variant	-	NC_000009.12:g.86946064A>G	gnomAD
GAS1	P54826	p.Ala240Thr	rs1218077694	missense variant	-	NC_000009.12:g.86946062C>T	gnomAD
GAS1	P54826	p.Arg241Leu	rs745783505	missense variant	-	NC_000009.12:g.86946058C>A	ExAC,gnomAD
GAS1	P54826	p.Cys243Tyr	rs1322610934	missense variant	-	NC_000009.12:g.86946052C>T	gnomAD
GAS1	P54826	p.Ala246Gly	COSM3375300	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86946043G>C	NCI-TCGA Cosmic
GAS1	P54826	p.Gly249Asp	rs1475516358	missense variant	-	NC_000009.12:g.86946034C>T	gnomAD
GAS1	P54826	p.Gly249Arg	rs749142292	missense variant	-	NC_000009.12:g.86946035C>G	ExAC,gnomAD
GAS1	P54826	p.Asn250Lys	rs141672448	missense variant	-	NC_000009.12:g.86946030G>C	ESP,ExAC,TOPMed,gnomAD
GAS1	P54826	p.Gly251Arg	rs1308257542	missense variant	-	NC_000009.12:g.86946029C>G	TOPMed
GAS1	P54826	p.Gly251Ser	rs1308257542	missense variant	-	NC_000009.12:g.86946029C>T	TOPMed
GAS1	P54826	p.Gly253Ser	rs1453746921	missense variant	-	NC_000009.12:g.86946023C>T	TOPMed,gnomAD
GAS1	P54826	p.Gly253Arg	rs1453746921	missense variant	-	NC_000009.12:g.86946023C>G	TOPMed,gnomAD
GAS1	P54826	p.Ser255Arg	rs936633922	missense variant	-	NC_000009.12:g.86946015G>T	TOPMed,gnomAD
GAS1	P54826	p.Gly256Val	rs1285964404	missense variant	-	NC_000009.12:g.86946013C>A	TOPMed,gnomAD
GAS1	P54826	p.Ser257Leu	rs766456958	missense variant	-	NC_000009.12:g.86946010G>A	ExAC,gnomAD
GAS1	P54826	p.Asp258Asn	rs1219370330	missense variant	-	NC_000009.12:g.86946008C>T	TOPMed,gnomAD
GAS1	P54826	p.Gly259Glu	RCV000024281	missense variant	Holoprosencephaly 1 (HPE1)	NC_000009.12:g.86946004C>T	ClinVar
GAS1	P54826	p.Gly259Glu	rs387907166	missense variant	-	NC_000009.12:g.86946004C>T	-
GAS1	P54826	p.Gly260Asp	rs750958937	missense variant	-	NC_000009.12:g.86946001C>T	ExAC,gnomAD
GAS1	P54826	p.Asp262Asn	rs1042442624	missense variant	-	NC_000009.12:g.86945996C>T	TOPMed
GAS1	P54826	p.Asp262Tyr	rs1042442624	missense variant	-	NC_000009.12:g.86945996C>A	TOPMed
GAS1	P54826	p.Asp263Gly	COSM3908656	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86945992T>C	NCI-TCGA Cosmic
GAS1	P54826	p.Tyr264Cys	rs1326352147	missense variant	-	NC_000009.12:g.86945989T>C	gnomAD
GAS1	P54826	p.Asp266Asn	COSM3908655	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86945984C>T	NCI-TCGA Cosmic
GAS1	P54826	p.Asp266Glu	rs1398069734	missense variant	-	NC_000009.12:g.86945982A>C	TOPMed,gnomAD
GAS1	P54826	p.Glu267Asp	rs1172157999	missense variant	-	NC_000009.12:g.86945979C>A	TOPMed,gnomAD
GAS1	P54826	p.Asp271Glu	rs762208724	missense variant	-	NC_000009.12:g.86945967G>C	ExAC,gnomAD
GAS1	P54826	p.Glu272Lys	rs1424014661	missense variant	-	NC_000009.12:g.86945966C>T	gnomAD
GAS1	P54826	p.Arg274Cys	rs1478813231	missense variant	-	NC_000009.12:g.86945960G>A	gnomAD
GAS1	P54826	p.Arg274His	rs777140389	missense variant	-	NC_000009.12:g.86945959C>T	ExAC,gnomAD
GAS1	P54826	p.Gly276Val	rs759114609	missense variant	-	NC_000009.12:g.86945953C>A	ExAC,gnomAD
GAS1	P54826	p.Gly276Glu	rs759114609	missense variant	-	NC_000009.12:g.86945953C>T	ExAC,gnomAD
GAS1	P54826	p.Gly276Arg	rs1052051022	missense variant	-	NC_000009.12:g.86945954C>T	gnomAD
GAS1	P54826	p.Gly277Val	rs774261663	missense variant	-	NC_000009.12:g.86945950C>A	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Gly277Asp	rs774261663	missense variant	-	NC_000009.12:g.86945950C>T	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Gly277Ser	rs1276591869	missense variant	-	NC_000009.12:g.86945951C>T	gnomAD
GAS1	P54826	p.Gly279Val	rs770870737	missense variant	-	NC_000009.12:g.86945944C>A	ExAC,gnomAD
GAS1	P54826	p.Gly280Asp	rs1374544560	missense variant	-	NC_000009.12:g.86945941C>T	gnomAD
GAS1	P54826	p.Glu281Asp	rs777659028	missense variant	-	NC_000009.12:g.86945937C>G	ExAC
GAS1	P54826	p.Glu281Lys	rs1229661103	missense variant	-	NC_000009.12:g.86945939C>T	gnomAD
GAS1	P54826	p.Glu281Gly	rs749020654	missense variant	-	NC_000009.12:g.86945938T>C	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Pro283Ser	rs1442298211	missense variant	-	NC_000009.12:g.86945933G>A	gnomAD
GAS1	P54826	p.Pro283Leu	rs999199419	missense variant	-	NC_000009.12:g.86945932G>A	gnomAD
GAS1	P54826	p.Pro283Gln	rs999199419	missense variant	-	NC_000009.12:g.86945932G>T	gnomAD
GAS1	P54826	p.Leu284Pro	rs769522122	missense variant	-	NC_000009.12:g.86945929A>G	ExAC,gnomAD
GAS1	P54826	p.Asp286Glu	rs758487819	missense variant	-	NC_000009.12:g.86945922G>T	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Asp286Tyr	rs780204293	missense variant	-	NC_000009.12:g.86945924C>A	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Asp286Asn	rs780204293	missense variant	-	NC_000009.12:g.86945924C>T	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Asp287Glu	rs1382691912	missense variant	-	NC_000009.12:g.86945919G>T	TOPMed,gnomAD
GAS1	P54826	p.Asp287Asn	rs750542611	missense variant	-	NC_000009.12:g.86945921C>T	ExAC,gnomAD
GAS1	P54826	p.Asp288Gly	rs1472763904	missense variant	-	NC_000009.12:g.86945917T>C	TOPMed,gnomAD
GAS1	P54826	p.Asp288His	rs779493377	missense variant	-	NC_000009.12:g.86945918C>G	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Gly289Asp	COSM3908653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.86945914C>T	NCI-TCGA Cosmic
GAS1	P54826	p.Gly289Ser	rs1235761889	missense variant	-	NC_000009.12:g.86945915C>T	gnomAD
GAS1	P54826	p.Pro291Ser	rs1161490251	missense variant	-	NC_000009.12:g.86945909G>A	gnomAD
GAS1	P54826	p.Pro294Ser	rs1472926478	missense variant	-	NC_000009.12:g.86945900G>A	TOPMed,gnomAD
GAS1	P54826	p.Arg295Leu	rs1215610871	missense variant	-	NC_000009.12:g.86945896C>A	gnomAD
GAS1	P54826	p.Arg295His	rs1215610871	missense variant	-	NC_000009.12:g.86945896C>T	gnomAD
GAS1	P54826	p.Ser298Gly	rs1311193365	missense variant	-	NC_000009.12:g.86945888T>C	gnomAD
GAS1	P54826	p.Gly299Arg	rs1378388213	missense variant	-	NC_000009.12:g.86945885C>G	TOPMed,gnomAD
GAS1	P54826	p.Gly299Cys	rs1378388213	missense variant	-	NC_000009.12:g.86945885C>A	TOPMed,gnomAD
GAS1	P54826	p.Ala300Gly	rs1281893748	missense variant	-	NC_000009.12:g.86945881G>C	TOPMed,gnomAD
GAS1	P54826	p.Ala300Thr	rs983792142	missense variant	-	NC_000009.12:g.86945882C>T	TOPMed
GAS1	P54826	p.Ala301Thr	rs752594353	missense variant	-	NC_000009.12:g.86945879C>T	gnomAD
GAS1	P54826	p.Ala302Pro	rs1257362876	missense variant	-	NC_000009.12:g.86945876C>G	TOPMed,gnomAD
GAS1	P54826	p.Ser303Ala	rs1464187677	missense variant	-	NC_000009.12:g.86945873A>C	gnomAD
GAS1	P54826	p.Ser303Leu	rs1297267367	missense variant	-	NC_000009.12:g.86945872G>A	gnomAD
GAS1	P54826	p.Gly304Asp	rs1364740970	missense variant	-	NC_000009.12:g.86945869C>T	TOPMed
GAS1	P54826	p.Gly307Arg	rs1039928712	missense variant	-	NC_000009.12:g.86945861C>T	TOPMed,gnomAD
GAS1	P54826	p.Pro310Ser	rs556261075	missense variant	-	NC_000009.12:g.86945852G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAS1	P54826	p.Tyr311Cys	rs1475610572	missense variant	-	NC_000009.12:g.86945848T>C	gnomAD
GAS1	P54826	p.Gly312Glu	rs1262737489	missense variant	-	NC_000009.12:g.86945845C>T	TOPMed,gnomAD
GAS1	P54826	p.Pro313Leu	rs1489402492	missense variant	-	NC_000009.12:g.86945842G>A	gnomAD
GAS1	P54826	p.Arg315Leu	rs981927518	missense variant	-	NC_000009.12:g.86945836C>A	TOPMed,gnomAD
GAS1	P54826	p.Arg315His	rs981927518	missense variant	-	NC_000009.12:g.86945836C>T	TOPMed,gnomAD
GAS1	P54826	p.Arg316Ser	rs764497889	missense variant	-	NC_000009.12:g.86945832C>A	ExAC,gnomAD
GAS1	P54826	p.Ser317Asn	rs1287712502	missense variant	-	NC_000009.12:g.86945830C>T	gnomAD
GAS1	P54826	p.Ser318Gly	rs760987855	missense variant	-	NC_000009.12:g.86945828T>C	ExAC,TOPMed,gnomAD
GAS1	P54826	p.Ser318Arg	rs1442233370	missense variant	-	NC_000009.12:g.86945826G>C	TOPMed
GAS1	P54826	p.Gly319Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.86945825C>T	NCI-TCGA
GAS1	P54826	p.Gly319Asp	rs1355462021	missense variant	-	NC_000009.12:g.86945824C>T	TOPMed,gnomAD
GAS1	P54826	p.Gly320Ala	rs1023906043	missense variant	-	NC_000009.12:g.86945821C>G	TOPMed,gnomAD
GAS1	P54826	p.Gly320Cys	rs969219103	missense variant	-	NC_000009.12:g.86945822C>A	TOPMed,gnomAD
GAS1	P54826	p.Gly322Arg	rs1347299119	missense variant	-	NC_000009.12:g.86945816C>G	TOPMed
GAS1	P54826	p.Arg323Cys	rs1336648218	missense variant	-	NC_000009.12:g.86945813G>A	TOPMed
GAS1	P54826	p.Pro326Ser	rs1457765003	missense variant	-	NC_000009.12:g.86945804G>A	TOPMed,gnomAD
GAS1	P54826	p.Pro326Leu	rs1348636199	missense variant	-	NC_000009.12:g.86945803G>A	gnomAD
GAS1	P54826	p.Arg327Gly	rs1010781529	missense variant	-	NC_000009.12:g.86945801G>C	TOPMed,gnomAD
GAS1	P54826	p.Ala329Val	rs1322731786	missense variant	-	NC_000009.12:g.86945794G>A	gnomAD
GAS1	P54826	p.Ala334Val	rs1168653525	missense variant	-	NC_000009.12:g.86945779G>A	gnomAD
GAS1	P54826	p.Ala334Thr	rs752391786	missense variant	-	NC_000009.12:g.86945780C>T	ExAC,gnomAD
GAS1	P54826	p.Leu337Phe	rs1478906898	missense variant	-	NC_000009.12:g.86945769C>G	gnomAD
GAS1	P54826	p.Leu338Pro	rs1304660313	missense variant	-	NC_000009.12:g.86945767A>G	TOPMed
GAS1	P54826	p.Leu344His	rs958204986	missense variant	-	NC_000009.12:g.86945749A>T	TOPMed,gnomAD
GAS1	P54826	p.Leu344Pro	rs958204986	missense variant	-	NC_000009.12:g.86945749A>G	TOPMed,gnomAD
GAS1	P54826	p.Phe345Ile	rs1211642467	missense variant	-	NC_000009.12:g.86945747A>T	TOPMed
FGF8	P55075	p.Gly2Cys	rs1395337720	missense variant	-	NC_000010.11:g.101775897C>A	gnomAD
FGF8	P55075	p.Gly2Asp	rs1167692966	missense variant	-	NC_000010.11:g.101775896C>T	TOPMed,gnomAD
FGF8	P55075	p.Gly2Ser	rs1395337720	missense variant	-	NC_000010.11:g.101775897C>T	gnomAD
FGF8	P55075	p.Gly2Val	rs1167692966	missense variant	-	NC_000010.11:g.101775896C>A	TOPMed,gnomAD
FGF8	P55075	p.Ser3SerValArgCysValTerGluThrGly	rs1193891206	stop gained	-	NC_000010.11:g.101775893_101775894insCTGTCTCTTATACACATCTGACGC	gnomAD
FGF8	P55075	p.Pro4Leu	rs1441770973	missense variant	-	NC_000010.11:g.101775890G>A	gnomAD
FGF8	P55075	p.Arg5Pro	rs1170351413	missense variant	-	NC_000010.11:g.101775887C>G	TOPMed
FGF8	P55075	p.Arg5Cys	rs1476982198	missense variant	-	NC_000010.11:g.101775888G>A	TOPMed
FGF8	P55075	p.Ser6Cys	rs1430177564	missense variant	-	NC_000010.11:g.101775884G>C	gnomAD
FGF8	P55075	p.Ala7Val	rs1407510754	missense variant	-	NC_000010.11:g.101775881G>A	TOPMed
FGF8	P55075	p.Ala7Thr	rs1395687641	missense variant	-	NC_000010.11:g.101775882C>T	TOPMed
FGF8	P55075	p.Ala7ValGlySerValArgCysValTerGluThrGlyUnk	rs1274243943	stop gained	-	NC_000010.11:g.101775882_101775883insCTGTCTCTTATACACATCTGACGCTGCCGAC	gnomAD
FGF8	P55075	p.Leu8Arg	rs1341984861	missense variant	-	NC_000010.11:g.101775878A>C	gnomAD
FGF8	P55075	p.Cys10Ser	rs1271282337	missense variant	-	NC_000010.11:g.101775873A>T	gnomAD
FGF8	P55075	p.Leu13Val	rs780259162	missense variant	-	NC_000010.11:g.101775772A>C	ExAC,gnomAD
FGF8	P55075	p.Leu13Trp	rs948801248	missense variant	-	NC_000010.11:g.101775771A>C	TOPMed,gnomAD
FGF8	P55075	p.His14Asn	rs137852659	missense variant	-	NC_000010.11:g.101775769G>T	-
FGF8	P55075	p.His14Asn	rs137852659	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775769G>T	UniProt,dbSNP
FGF8	P55075	p.His14Asn	VAR_057962	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775769G>T	UniProt
FGF8	P55075	p.His14Pro	rs1216137645	missense variant	-	NC_000010.11:g.101775768T>G	TOPMed
FGF8	P55075	p.His14Asn	RCV000030886	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101775769G>T	ClinVar
FGF8	P55075	p.Leu16Val	rs1467459536	missense variant	-	NC_000010.11:g.101775763G>C	TOPMed,gnomAD
FGF8	P55075	p.Leu16Met	rs1467459536	missense variant	-	NC_000010.11:g.101775763G>T	TOPMed,gnomAD
FGF8	P55075	p.Val17Ile	rs1275593194	missense variant	-	NC_000010.11:g.101775760C>T	gnomAD
FGF8	P55075	p.Leu18Ile	rs1329087018	missense variant	-	NC_000010.11:g.101775757G>T	gnomAD
FGF8	P55075	p.Leu20Arg	rs921814082	missense variant	-	NC_000010.11:g.101775750A>C	TOPMed,gnomAD
FGF8	P55075	p.Leu20His	rs921814082	missense variant	-	NC_000010.11:g.101775750A>T	TOPMed,gnomAD
FGF8	P55075	p.Ala22Ser	rs1375025822	missense variant	-	NC_000010.11:g.101775745C>A	gnomAD
FGF8	P55075	p.Gln23Arg	rs1279824419	missense variant	-	NC_000010.11:g.101775741T>C	TOPMed,gnomAD
FGF8	P55075	p.Pro26Leu	rs137852660	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775209G>A	UniProt,dbSNP
FGF8	P55075	p.Pro26Leu	VAR_057963	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775209G>A	UniProt
FGF8	P55075	p.Pro26Leu	rs137852660	missense variant	-	NC_000010.11:g.101775209G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Pro26Leu	RCV000239300	missense variant	-	NC_000010.11:g.101775209G>A	ClinVar
FGF8	P55075	p.Pro26Ala	rs1429510876	missense variant	-	NC_000010.11:g.101775210G>C	gnomAD
FGF8	P55075	p.Pro26Leu	RCV000767027	missense variant	-	NC_000010.11:g.101775209G>A	ClinVar
FGF8	P55075	p.Arg28Ser	rs199858724	missense variant	-	NC_000010.11:g.101775202C>A	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Pro30Leu	rs1413742406	missense variant	-	NC_000010.11:g.101775197G>A	gnomAD
FGF8	P55075	p.Ala31Val	rs544494562	missense variant	-	NC_000010.11:g.101775194G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Ala31Glu	rs544494562	missense variant	-	NC_000010.11:g.101775194G>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Gly33Ser	rs1259170786	missense variant	-	NC_000010.11:g.101775189C>T	gnomAD
FGF8	P55075	p.Gly33Val	rs771618872	missense variant	-	NC_000010.11:g.101775188C>A	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg34Lys	rs1480112204	missense variant	-	NC_000010.11:g.101775185C>T	gnomAD
FGF8	P55075	p.Leu36Ile	COSM1561004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101775180G>T	NCI-TCGA Cosmic
FGF8	P55075	p.Ala37Pro	rs749761471	missense variant	-	NC_000010.11:g.101775177C>G	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Ala37Thr	rs749761471	missense variant	-	NC_000010.11:g.101775177C>T	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Phe40Leu	rs137852661	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775168A>G	UniProt,dbSNP
FGF8	P55075	p.Phe40Leu	VAR_057964	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101775168A>G	UniProt
FGF8	P55075	p.Phe40Leu	rs137852661	missense variant	-	NC_000010.11:g.101775168A>G	-
FGF8	P55075	p.Phe40Leu	RCV000030887	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101775168A>G	ClinVar
FGF8	P55075	p.Arg41Gln	rs776130344	missense variant	-	NC_000010.11:g.101775164C>T	ExAC,TOPMed
FGF8	P55075	p.Ala42Gly	rs770042960	missense variant	-	NC_000010.11:g.101775161G>C	ExAC,gnomAD
FGF8	P55075	p.Arg44Trp	rs781205876	missense variant	-	NC_000010.11:g.101775156G>A	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg44Trp	RCV000656428	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101775156G>A	ClinVar
FGF8	P55075	p.Arg44Gln	rs1293990615	missense variant	-	NC_000010.11:g.101775155C>T	gnomAD
FGF8	P55075	p.Glu45Asp	rs1390982549	missense variant	-	NC_000010.11:g.101775151C>A	gnomAD
FGF8	P55075	p.Gln47His	rs1371482909	missense variant	-	NC_000010.11:g.101775145C>G	gnomAD
FGF8	P55075	p.Gln52Arg	rs1456334435	missense variant	-	NC_000010.11:g.101775131T>C	TOPMed
FGF8	P55075	p.Glu56Gln	rs1252084221	missense variant	-	NC_000010.11:g.101774870C>G	gnomAD
FGF8	P55075	p.Thr61Met	rs1474057032	missense variant	-	NC_000010.11:g.101774854G>A	TOPMed
FGF8	P55075	p.Gln63Ter	COSM4822908	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.101774849G>A	NCI-TCGA Cosmic
FGF8	P55075	p.Leu64Phe	rs184500788	missense variant	-	NC_000010.11:g.101774846G>A	1000Genomes,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Ser65Arg	rs1358184628	missense variant	-	NC_000010.11:g.101774841G>T	TOPMed
FGF8	P55075	p.Arg67His	rs1204612800	missense variant	-	NC_000010.11:g.101774836C>T	gnomAD
FGF8	P55075	p.Arg67Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101774837G>A	NCI-TCGA
FGF8	P55075	p.Ile69Val	rs777079870	missense variant	-	NC_000010.11:g.101774831T>C	ExAC,gnomAD
FGF8	P55075	p.Thr71Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101774825T>A	NCI-TCGA
FGF8	P55075	p.Tyr72His	rs375117193	missense variant	-	NC_000010.11:g.101774822A>G	ESP,ExAC,gnomAD
FGF8	P55075	p.Ser76Arg	rs1554834876	missense variant	-	NC_000010.11:g.101774808G>C	-
FGF8	P55075	p.Ser76Arg	RCV000503695	missense variant	-	NC_000010.11:g.101774808G>C	ClinVar
FGF8	P55075	p.Thr78Ile	rs748261973	missense variant	-	NC_000010.11:g.101774803G>A	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Gly80Glu	rs1382060873	missense variant	-	NC_000010.11:g.101774797C>T	gnomAD
FGF8	P55075	p.Gln84Arg	rs1171493759	missense variant	-	NC_000010.11:g.101774785T>C	gnomAD
FGF8	P55075	p.Val85Asp	RCV000419587	missense variant	-	NC_000010.11:g.101774782A>T	ClinVar
FGF8	P55075	p.Val85Asp	rs1057524676	missense variant	-	NC_000010.11:g.101774782A>T	-
FGF8	P55075	p.Leu86Pro	rs537681304	missense variant	-	NC_000010.11:g.101774779A>G	1000Genomes,ExAC,gnomAD
FGF8	P55075	p.Lys89Glu	rs137852662	missense variant	-	NC_000010.11:g.101774771T>C	-
FGF8	P55075	p.Lys89Glu	rs137852662	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101774771T>C	UniProt,dbSNP
FGF8	P55075	p.Lys89Glu	VAR_057965	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101774771T>C	UniProt
FGF8	P55075	p.Lys89Glu	RCV000030888	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101774771T>C	ClinVar
FGF8	P55075	p.Arg90Leu	rs1445221357	missense variant	-	NC_000010.11:g.101774767C>A	TOPMed,gnomAD
FGF8	P55075	p.Arg90Ser	rs767171479	missense variant	-	NC_000010.11:g.101774768G>T	ExAC,gnomAD
FGF8	P55075	p.Arg90His	rs1445221357	missense variant	-	NC_000010.11:g.101774767C>T	TOPMed,gnomAD
FGF8	P55075	p.Asn92Tyr	rs761163547	missense variant	-	NC_000010.11:g.101774762T>A	ExAC,gnomAD
FGF8	P55075	p.Asn92Lys	COSM914058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101774760G>T	NCI-TCGA Cosmic
FGF8	P55075	p.Asn92Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101774762T>C	NCI-TCGA
FGF8	P55075	p.Met94Val	rs765613892	missense variant	-	NC_000010.11:g.101774756T>C	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Met94Leu	rs765613892	missense variant	-	NC_000010.11:g.101774756T>A	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Met94Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101774754C>A	NCI-TCGA
FGF8	P55075	p.Ala95Glu	rs876661328	missense variant	-	NC_000010.11:g.101774752G>T	-
FGF8	P55075	p.Ala95Glu	RCV000223804	missense variant	-	NC_000010.11:g.101774752G>T	ClinVar
FGF8	P55075	p.Glu96Lys	rs1278519475	missense variant	-	NC_000010.11:g.101774750C>T	gnomAD
FGF8	P55075	p.Glu96Gly	rs1213447388	missense variant	-	NC_000010.11:g.101774749T>C	gnomAD
FGF8	P55075	p.Glu96Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101774750C>G	NCI-TCGA
FGF8	P55075	p.Asp97Glu	rs760069691	missense variant	-	NC_000010.11:g.101774745G>T	ExAC,gnomAD
FGF8	P55075	p.Gly98Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101774744C>T	NCI-TCGA
FGF8	P55075	p.Pro100His	rs1328732578	missense variant	-	NC_000010.11:g.101774737G>T	gnomAD
FGF8	P55075	p.Pro100Ser	rs777322506	missense variant	-	NC_000010.11:g.101774738G>A	ExAC,gnomAD
FGF8	P55075	p.Phe101Leu	rs369110952	missense variant	-	NC_000010.11:g.101774733G>C	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Phe101Leu	rs369110952	missense variant	-	NC_000010.11:g.101774733G>T	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Ile105Val	rs1473226986	missense variant	-	NC_000010.11:g.101771561T>C	gnomAD
FGF8	P55075	p.Val106Met	rs774503381	missense variant	-	NC_000010.11:g.101771558C>T	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Val106Leu	rs774503381	missense variant	-	NC_000010.11:g.101771558C>A	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Thr108Met	rs876661329	missense variant	-	NC_000010.11:g.101771551G>A	-
FGF8	P55075	p.Thr108Met	RCV000223893	missense variant	-	NC_000010.11:g.101771551G>A	ClinVar
FGF8	P55075	p.Thr108Met	RCV000661903	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101771551G>A	ClinVar
FGF8	P55075	p.Gly112Arg	rs1213544634	missense variant	-	NC_000010.11:g.101771540C>T	gnomAD
FGF8	P55075	p.Gly112Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101771539C>A	NCI-TCGA
FGF8	P55075	p.Val115Ile	rs749382906	missense variant	-	NC_000010.11:g.101771531C>T	ExAC,gnomAD
FGF8	P55075	p.Arg116Gln	rs779901890	missense variant	-	NC_000010.11:g.101771527C>T	ExAC,gnomAD
FGF8	P55075	p.Arg116Gly	rs137852663	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101771528G>C	UniProt,dbSNP
FGF8	P55075	p.Arg116Gly	VAR_057966	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101771528G>C	UniProt
FGF8	P55075	p.Arg116Gly	rs137852663	missense variant	-	NC_000010.11:g.101771528G>C	TOPMed,gnomAD
FGF8	P55075	p.Arg116Gly	RCV000009695	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101771528G>C	ClinVar
FGF8	P55075	p.Arg116Ter	RCV000735418	nonsense	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101771528G>A	ClinVar
FGF8	P55075	p.Arg118Gln	rs769756528	missense variant	-	NC_000010.11:g.101771521C>T	ExAC,gnomAD
FGF8	P55075	p.Arg118Ter	rs876661330	stop gained	-	NC_000010.11:g.101771522G>A	gnomAD
FGF8	P55075	p.Arg118Ter	RCV000223728	nonsense	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101771522G>A	ClinVar
FGF8	P55075	p.Ala120Thr	rs1439746417	missense variant	-	NC_000010.11:g.101771516C>T	gnomAD
FGF8	P55075	p.Glu121Lys	rs781019978	missense variant	-	NC_000010.11:g.101771513C>T	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Thr122Arg	rs61730334	missense variant	-	NC_000010.11:g.101771509G>C	gnomAD
FGF8	P55075	p.Thr122Met	rs61730334	missense variant	-	NC_000010.11:g.101771509G>A	gnomAD
FGF8	P55075	p.Thr122Met	RCV000656425	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101771509G>A	ClinVar
FGF8	P55075	p.Gly123Asp	rs746673772	missense variant	-	NC_000010.11:g.101771506C>T	ExAC
FGF8	P55075	p.Tyr125Phe	rs575711617	missense variant	-	NC_000010.11:g.101771500T>A	1000Genomes,ExAC,gnomAD
FGF8	P55075	p.Ile126Met	COSM415195	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101771496G>C	NCI-TCGA Cosmic
FGF8	P55075	p.Cys127Tyr	COSM1317496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101771494C>T	NCI-TCGA Cosmic
FGF8	P55075	p.Met128Val	rs752284353	missense variant	-	NC_000010.11:g.101771492T>C	ExAC,gnomAD
FGF8	P55075	p.Met128Ile	COSM415196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101771490C>T	NCI-TCGA Cosmic
FGF8	P55075	p.Lys130Asn	rs201793069	missense variant	-	NC_000010.11:g.101771484C>G	1000Genomes,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Leu134Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101771473A>G	NCI-TCGA
FGF8	P55075	p.Ile135Met	rs767919104	missense variant	-	NC_000010.11:g.101771469G>C	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Ala136Thr	rs904069647	missense variant	-	NC_000010.11:g.101771468C>T	TOPMed,gnomAD
FGF8	P55075	p.Ser138Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101770618C>A	NCI-TCGA
FGF8	P55075	p.Asn139Asp	rs746765787	missense variant	-	NC_000010.11:g.101770616T>C	ExAC,gnomAD
FGF8	P55075	p.Asn139Lys	rs772856803	missense variant	-	NC_000010.11:g.101770614G>T	ExAC,gnomAD
FGF8	P55075	p.Gly140Ser	RCV000128828	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101770613C>T	ClinVar
FGF8	P55075	p.Gly140Ser	rs606231407	missense variant	-	NC_000010.11:g.101770613C>T	ExAC,gnomAD
FGF8	P55075	p.Gly142Asp	rs778764638	missense variant	-	NC_000010.11:g.101770606C>T	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Val146Phe	rs139565972	missense variant	-	NC_000010.11:g.101770595C>A	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Val146Ile	rs139565972	missense variant	-	NC_000010.11:g.101770595C>T	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Val146Phe	RCV000656423	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101770595C>A	ClinVar
FGF8	P55075	p.Thr148Met	rs150575389	missense variant	-	NC_000010.11:g.101770588G>A	ESP,TOPMed,gnomAD
FGF8	P55075	p.Glu149Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101770584C>A	NCI-TCGA
FGF8	P55075	p.Val151Leu	rs1367620386	missense variant	-	NC_000010.11:g.101770580C>A	TOPMed
FGF8	P55075	p.Glu153Lys	rs1186700485	missense variant	-	NC_000010.11:g.101770574C>T	gnomAD
FGF8	P55075	p.Asn155Lys	rs1322823531	missense variant	-	NC_000010.11:g.101770566G>T	TOPMed
FGF8	P55075	p.Asn155Ser	rs778082287	missense variant	-	NC_000010.11:g.101770567T>C	ExAC,gnomAD
FGF8	P55075	p.Asn155Ser	RCV000656427	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101770567T>C	ClinVar
FGF8	P55075	p.Ala158Val	COSM3433672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101770558G>A	NCI-TCGA Cosmic
FGF8	P55075	p.Gln160His	rs1306822945	missense variant	-	NC_000010.11:g.101770551C>G	gnomAD
FGF8	P55075	p.Lys163Asn	rs759549803	missense variant	-	NC_000010.11:g.101770542C>G	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Tyr164Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101770540T>C	NCI-TCGA
FGF8	P55075	p.Glu165Lys	rs201979353	missense variant	-	NC_000010.11:g.101770538C>T	1000Genomes,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Tyr168Asn	rs1447358308	missense variant	-	NC_000010.11:g.101770529A>T	TOPMed
FGF8	P55075	p.Tyr168Ter	rs1357635254	stop gained	-	NC_000010.11:g.101770527G>T	gnomAD
FGF8	P55075	p.Ala170Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101770522G>A	NCI-TCGA
FGF8	P55075	p.Arg173Cys	rs369967262	missense variant	-	NC_000010.11:g.101770514G>A	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg173His	rs761712063	missense variant	-	NC_000010.11:g.101770513C>T	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Lys174Asn	rs1466609464	missense variant	-	NC_000010.11:g.101770509C>A	gnomAD
FGF8	P55075	p.Gly175Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.101770507C>T	NCI-TCGA
FGF8	P55075	p.Arg176Gln	rs138208879	missense variant	-	NC_000010.11:g.101770504C>T	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg176Trp	rs774080225	missense variant	-	NC_000010.11:g.101770505G>A	ExAC,gnomAD
FGF8	P55075	p.Arg178His	rs377240055	missense variant	-	NC_000010.11:g.101770498C>T	ESP,TOPMed
FGF8	P55075	p.Arg178Cys	rs1257891978	missense variant	-	NC_000010.11:g.101770499G>A	gnomAD
FGF8	P55075	p.Thr183Met	rs1480224305	missense variant	-	NC_000010.11:g.101770483G>A	TOPMed,gnomAD
FGF8	P55075	p.Thr183Lys	rs1480224305	missense variant	-	NC_000010.11:g.101770483G>T	TOPMed,gnomAD
FGF8	P55075	p.Arg184Trp	rs548987968	missense variant	-	NC_000010.11:g.101770481G>A	1000Genomes,ExAC,gnomAD
FGF8	P55075	p.Arg184Gln	rs1318539900	missense variant	-	NC_000010.11:g.101770480C>T	gnomAD
FGF8	P55075	p.His186Gln	rs1231574123	missense variant	-	NC_000010.11:g.101770473G>C	gnomAD
FGF8	P55075	p.Arg188His	rs753068830	missense variant	-	NC_000010.11:g.101770468C>T	ExAC,gnomAD
FGF8	P55075	p.Arg188Pro	rs753068830	missense variant	-	NC_000010.11:g.101770468C>G	ExAC,gnomAD
FGF8	P55075	p.Arg188Cys	rs770066142	missense variant	-	NC_000010.11:g.101770469G>A	ExAC,gnomAD
FGF8	P55075	p.Val190Ile	rs1391175985	missense variant	-	NC_000010.11:g.101770463C>T	gnomAD
FGF8	P55075	p.His191Gln	rs1333810364	missense variant	-	NC_000010.11:g.101770458G>T	gnomAD
FGF8	P55075	p.Phe192Leu	rs755130209	missense variant	-	NC_000010.11:g.101770457A>G	ExAC,gnomAD
FGF8	P55075	p.Arg195Gln	rs876661331	missense variant	-	NC_000010.11:g.101770447C>T	-
FGF8	P55075	p.Arg195Gln	RCV000223812	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.101770447C>T	ClinVar
FGF8	P55075	p.Pro197Ser	rs1324602839	missense variant	-	NC_000010.11:g.101770442G>A	gnomAD
FGF8	P55075	p.Pro197Leu	rs766362194	missense variant	-	NC_000010.11:g.101770441G>A	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg198Pro	rs1418159217	missense variant	-	NC_000010.11:g.101770438C>G	TOPMed,gnomAD
FGF8	P55075	p.Arg198Trp	rs367593833	missense variant	-	NC_000010.11:g.101770439G>A	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg198Gln	rs1418159217	missense variant	-	NC_000010.11:g.101770438C>T	TOPMed,gnomAD
FGF8	P55075	p.Gly199Asp	rs1405458381	missense variant	-	NC_000010.11:g.101770435C>T	gnomAD
FGF8	P55075	p.His200Gln	rs1180309083	missense variant	-	NC_000010.11:g.101770431G>C	TOPMed,gnomAD
FGF8	P55075	p.His200Ter	RCV000501421	frameshift	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101770437_101770438dup	ClinVar
FGF8	P55075	p.His201Gln	rs761660781	missense variant	-	NC_000010.11:g.101770428G>T	ExAC,gnomAD
FGF8	P55075	p.Thr202Ala	rs1053073612	missense variant	-	NC_000010.11:g.101770427T>C	TOPMed,gnomAD
FGF8	P55075	p.Thr202Asn	rs1252351111	missense variant	-	NC_000010.11:g.101770426G>T	TOPMed,gnomAD
FGF8	P55075	p.Thr202Ile	rs1252351111	missense variant	-	NC_000010.11:g.101770426G>A	TOPMed,gnomAD
FGF8	P55075	p.Thr203Ala	rs1211886346	missense variant	-	NC_000010.11:g.101770424T>C	gnomAD
FGF8	P55075	p.Glu204Lys	rs768621428	missense variant	-	NC_000010.11:g.101770421C>T	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Ser206Thr	rs1368630910	missense variant	-	NC_000010.11:g.101770414C>G	TOPMed,gnomAD
FGF8	P55075	p.Ser206Gly	rs1459130163	missense variant	-	NC_000010.11:g.101770415T>C	TOPMed,gnomAD
FGF8	P55075	p.Leu207Pro	rs1238533333	missense variant	-	NC_000010.11:g.101770411A>G	gnomAD
FGF8	P55075	p.Arg208Ser	rs138682882	missense variant	-	NC_000010.11:g.101770409G>T	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg208His	rs769174862	missense variant	-	NC_000010.11:g.101770408C>T	ExAC,gnomAD
FGF8	P55075	p.Arg208Cys	rs138682882	missense variant	-	NC_000010.11:g.101770409G>A	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Phe209Leu	rs745400628	missense variant	-	NC_000010.11:g.101770404G>C	ExAC,gnomAD
FGF8	P55075	p.Glu210Lys	rs1370886145	missense variant	-	NC_000010.11:g.101770403C>T	gnomAD
FGF8	P55075	p.Pro215Leu	rs772602922	missense variant	-	NC_000010.11:g.101770387G>A	ExAC,gnomAD
FGF8	P55075	p.Pro215Ser	COSM3806318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.101770388G>A	NCI-TCGA Cosmic
FGF8	P55075	p.Phe217Cys	rs1293627483	missense variant	-	NC_000010.11:g.101770381A>C	gnomAD
FGF8	P55075	p.Thr218Lys	rs137852664	missense variant	-	NC_000010.11:g.101770378G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Thr218Met	rs137852664	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101770378G>A	UniProt,dbSNP
FGF8	P55075	p.Thr218Met	VAR_057967	missense variant	Hypogonadotropic hypogonadism 6 with or without anosmia (HH6)	NC_000010.11:g.101770378G>A	UniProt
FGF8	P55075	p.Thr218Met	rs137852664	missense variant	-	NC_000010.11:g.101770378G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Thr218Met	RCV000009697	missense variant	Kallmann syndrome 6 (KAL6)	NC_000010.11:g.101770378G>A	ClinVar
FGF8	P55075	p.Arg219Cys	rs370899813	missense variant	-	NC_000010.11:g.101770376G>A	ESP,ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg219His	rs1440146511	missense variant	-	NC_000010.11:g.101770375C>T	gnomAD
FGF8	P55075	p.Ser220Gly	rs1394398993	missense variant	-	NC_000010.11:g.101770373T>C	gnomAD
FGF8	P55075	p.Ser220Arg	rs1191598934	missense variant	-	NC_000010.11:g.101770371G>C	gnomAD
FGF8	P55075	p.Arg222Cys	rs780335350	missense variant	-	NC_000010.11:g.101770367G>A	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg222His	rs756078879	missense variant	-	NC_000010.11:g.101770366C>T	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Gly223Ala	rs767513127	missense variant	-	NC_000010.11:g.101770363C>G	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Gly223Asp	rs767513127	missense variant	-	NC_000010.11:g.101770363C>T	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Gly223Ser	rs1217798504	missense variant	-	NC_000010.11:g.101770364C>T	TOPMed,gnomAD
FGF8	P55075	p.Ser224Asn	rs1289650216	missense variant	-	NC_000010.11:g.101770360C>T	TOPMed
FGF8	P55075	p.Gln225Lys	rs757239246	missense variant	-	NC_000010.11:g.101770358G>T	ExAC,gnomAD
FGF8	P55075	p.Thr227Asn	rs1332207532	missense variant	-	NC_000010.11:g.101770351G>T	gnomAD
FGF8	P55075	p.Trp228Ter	rs1301318493	stop gained	-	NC_000010.11:g.101770348C>T	gnomAD
FGF8	P55075	p.Trp228Cys	rs1381209498	missense variant	-	NC_000010.11:g.101770347C>A	gnomAD
FGF8	P55075	p.Ala229Val	rs1299728031	missense variant	-	NC_000010.11:g.101770345G>A	gnomAD
FGF8	P55075	p.Ala229Ser	rs763794275	missense variant	-	NC_000010.11:g.101770346C>A	ExAC,gnomAD
FGF8	P55075	p.Glu231Gly	rs1170621482	missense variant	-	NC_000010.11:g.101770339T>C	gnomAD
FGF8	P55075	p.Glu231Lys	rs1374564961	missense variant	-	NC_000010.11:g.101770340C>T	TOPMed,gnomAD
FGF8	P55075	p.Pro232Ser	rs1049735997	missense variant	-	NC_000010.11:g.101770337G>A	TOPMed,gnomAD
FGF8	P55075	p.Pro232Ala	rs1049735997	missense variant	-	NC_000010.11:g.101770337G>C	TOPMed,gnomAD
FGF8	P55075	p.Arg233Gly	rs774950983	missense variant	-	NC_000010.11:g.101770334G>C	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg233Ter	rs774950983	stop gained	-	NC_000010.11:g.101770334G>A	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg233Gln	rs746008415	missense variant	-	NC_000010.11:g.101770333C>T	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Arg233Leu	rs746008415	missense variant	-	NC_000010.11:g.101770333C>A	ExAC,TOPMed,gnomAD
FGF8	P55075	p.Ter234Glu	rs1483322770	stop lost	-	NC_000010.11:g.101770331A>C	TOPMed
FOXG1	P55316	p.Leu2Met	rs776244220	missense variant	-	NC_000014.9:g.28767283C>A	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Asp3Val	rs761420014	missense variant	-	NC_000014.9:g.28767287A>T	ExAC,gnomAD
FOXG1	P55316	p.Asp3Ala	rs761420014	missense variant	-	NC_000014.9:g.28767287A>C	ExAC,gnomAD
FOXG1	P55316	p.Met4Val	rs1466463571	missense variant	-	NC_000014.9:g.28767289A>G	TOPMed,gnomAD
FOXG1	P55316	p.Met4Leu	rs1466463571	missense variant	-	NC_000014.9:g.28767289A>T	TOPMed,gnomAD
FOXG1	P55316	p.Gly5Val	rs1333660434	missense variant	-	NC_000014.9:g.28767293G>T	gnomAD
FOXG1	P55316	p.Asp6Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767295G>A	NCI-TCGA
FOXG1	P55316	p.Glu9Ala	rs772990946	missense variant	-	NC_000014.9:g.28767305A>C	ExAC,gnomAD
FOXG1	P55316	p.Glu9Gln	COSM4829530	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767304G>C	NCI-TCGA Cosmic
FOXG1	P55316	p.Glu9Lys	rs1390986068	missense variant	-	NC_000014.9:g.28767304G>A	gnomAD
FOXG1	P55316	p.Val10Met	rs1235342890	missense variant	-	NC_000014.9:g.28767307G>A	gnomAD
FOXG1	P55316	p.Lys15Thr	rs1259645564	missense variant	-	NC_000014.9:g.28767323A>C	gnomAD
FOXG1	P55316	p.Ser19Asn	rs1176748250	missense variant	-	NC_000014.9:g.28767335G>A	TOPMed
FOXG1	P55316	p.Ala27Gly	rs1344440643	missense variant	-	NC_000014.9:g.28767359C>G	gnomAD
FOXG1	P55316	p.Asn30Ser	rs1053995886	missense variant	-	NC_000014.9:g.28767368A>G	TOPMed,gnomAD
FOXG1	P55316	p.Asn32Ser	rs1429160286	missense variant	-	NC_000014.9:g.28767374A>G	gnomAD
FOXG1	P55316	p.Asn32Thr	rs1429160286	missense variant	-	NC_000014.9:g.28767374A>C	gnomAD
FOXG1	P55316	p.His33Tyr	rs895309846	missense variant	-	NC_000014.9:g.28767376C>T	TOPMed
FOXG1	P55316	p.His33Arg	rs1478379479	missense variant	-	NC_000014.9:g.28767377A>G	gnomAD
FOXG1	P55316	p.His33Asn	rs895309846	missense variant	-	NC_000014.9:g.28767376C>A	TOPMed
FOXG1	P55316	p.His33Pro	rs1478379479	missense variant	-	NC_000014.9:g.28767377A>C	gnomAD
FOXG1	P55316	p.Ala35Thr	rs767463607	missense variant	-	NC_000014.9:g.28767382G>A	ExAC,gnomAD
FOXG1	P55316	p.Ala35Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767383C>T	NCI-TCGA
FOXG1	P55316	p.Ala35Gly	rs1485562256	missense variant	-	NC_000014.9:g.28767383C>G	TOPMed
FOXG1	P55316	p.Gly38Val	rs543211742	missense variant	-	NC_000014.9:g.28767392G>T	1000Genomes,ExAC,TOPMed
FOXG1	P55316	p.His39Arg	rs1221581928	missense variant	-	NC_000014.9:g.28767395A>G	TOPMed
FOXG1	P55316	p.His39Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767394C>T	NCI-TCGA
FOXG1	P55316	p.His40Asn	rs1047101653	missense variant	-	NC_000014.9:g.28767397C>A	TOPMed,gnomAD
FOXG1	P55316	p.Ser42Thr	rs565419356	missense variant	-	NC_000014.9:g.28767404G>C	1000Genomes,ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Ser42Asn	rs565419356	missense variant	-	NC_000014.9:g.28767404G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXG1	P55316	p.His44Pro	rs1555321183	missense variant	-	NC_000014.9:g.28767410A>C	-
FOXG1	P55316	p.His44Gln	rs796052446	missense variant	-	NC_000014.9:g.28767411C>A	-
FOXG1	P55316	p.His44Tyr	rs758601231	missense variant	-	NC_000014.9:g.28767409C>T	ExAC,gnomAD
FOXG1	P55316	p.His44Pro	RCV000522323	missense variant	-	NC_000014.9:g.28767410A>C	ClinVar
FOXG1	P55316	p.His44Gln	RCV000187426	missense variant	-	NC_000014.9:g.28767411C>A	ClinVar
FOXG1	P55316	p.Pro45Leu	rs780437753	missense variant	-	NC_000014.9:g.28767413C>T	ExAC
FOXG1	P55316	p.Gln46Ter	rs786205000	stop gained	-	NC_000014.9:g.28767415C>T	-
FOXG1	P55316	p.Gln46Ter	RCV000170071	nonsense	-	NC_000014.9:g.28767415C>T	ClinVar
FOXG1	P55316	p.Gln46Ter	RCV000187470	frameshift	-	NC_000014.9:g.28767415dup	ClinVar
FOXG1	P55316	p.Gln46Ter	RCV000145981	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767414_28767415dup	ClinVar
FOXG1	P55316	p.His48Asp	rs1183504841	missense variant	-	NC_000014.9:g.28767421C>G	TOPMed
FOXG1	P55316	p.His49Tyr	rs769147287	missense variant	-	NC_000014.9:g.28767424C>T	ExAC,gnomAD
FOXG1	P55316	p.His50Pro	rs1255838501	missense variant	-	NC_000014.9:g.28767428A>C	TOPMed
FOXG1	P55316	p.His51Gln	rs963161057	missense variant	-	NC_000014.9:g.28767432C>G	TOPMed
FOXG1	P55316	p.His57Ter	RCV000145983	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767449_28767458del	ClinVar
FOXG1	P55316	p.His57Gln	RCV000441568	missense variant	-	NC_000014.9:g.28767450C>A	ClinVar
FOXG1	P55316	p.His57Gln	rs1057522121	missense variant	-	NC_000014.9:g.28767450C>A	-
FOXG1	P55316	p.Pro59Leu	rs772898039	missense variant	-	NC_000014.9:g.28767455C>T	ExAC
FOXG1	P55316	p.Pro60Ser	rs1219590722	missense variant	-	NC_000014.9:g.28767457C>T	gnomAD
FOXG1	P55316	p.Pro61Leu	rs1488919198	missense variant	-	NC_000014.9:g.28767461C>T	gnomAD
FOXG1	P55316	p.Pro61Ser	rs762634382	missense variant	-	NC_000014.9:g.28767460C>T	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Pro61Ser	RCV000584984	missense variant	-	NC_000014.9:g.28767460C>T	ClinVar
FOXG1	P55316	p.Ala62Asp	rs1403129906	missense variant	-	NC_000014.9:g.28767464C>A	TOPMed
FOXG1	P55316	p.Ala62Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767464C>T	NCI-TCGA
FOXG1	P55316	p.Pro63Ser	rs1288532385	missense variant	-	NC_000014.9:g.28767466C>T	TOPMed
FOXG1	P55316	p.Pro63Arg	rs796052478	missense variant	-	NC_000014.9:g.28767467C>G	TOPMed,gnomAD
FOXG1	P55316	p.Pro63Arg	RCV000187480	missense variant	-	NC_000014.9:g.28767467C>G	ClinVar
FOXG1	P55316	p.Pro63Ter	RCV000524001	frameshift	-	NC_000014.9:g.28767456_28767465dup	ClinVar
FOXG1	P55316	p.Pro63Ter	RCV000648316	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767456_28767465dup	ClinVar
FOXG1	P55316	p.Pro65Ser	rs1165833768	missense variant	-	NC_000014.9:g.28767472C>T	gnomAD
FOXG1	P55316	p.Pro65Arg	rs770519636	missense variant	-	NC_000014.9:g.28767473C>G	ExAC,TOPMed
FOXG1	P55316	p.Pro67Leu	rs1422876736	missense variant	-	NC_000014.9:g.28767479C>T	TOPMed,gnomAD
FOXG1	P55316	p.Pro68Ser	rs796052479	missense variant	-	NC_000014.9:g.28767481C>T	gnomAD
FOXG1	P55316	p.Pro68Ser	RCV000439868	missense variant	-	NC_000014.9:g.28767481C>T	ClinVar
FOXG1	P55316	p.Pro69Gln	rs727503933	missense variant	-	NC_000014.9:g.28767485C>A	ExAC,TOPMed
FOXG1	P55316	p.Pro69Gln	RCV000552489	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767485C>A	ClinVar
FOXG1	P55316	p.Gln70Arg	rs587783633	missense variant	-	NC_000014.9:g.28767488A>G	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Gln70Pro	RCV000576256	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767488A>C	ClinVar
FOXG1	P55316	p.Gln70Pro	rs587783633	missense variant	-	NC_000014.9:g.28767488A>C	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Gln72Ter	rs1555321237	stop gained	-	NC_000014.9:g.28767493C>T	-
FOXG1	P55316	p.Gln72Ter	RCV000576162	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28767493C>T	ClinVar
FOXG1	P55316	p.Gln73Pro	rs760663911	missense variant	-	NC_000014.9:g.28767497A>C	ExAC,TOPMed
FOXG1	P55316	p.Gln73Ter	RCV000187450	nonsense	-	NC_000014.9:g.28767496C>T	ClinVar
FOXG1	P55316	p.Gln73Ter	rs796052458	stop gained	-	NC_000014.9:g.28767496C>T	-
FOXG1	P55316	p.Gln73Pro	RCV000724697	missense variant	-	NC_000014.9:g.28767497A>C	ClinVar
FOXG1	P55316	p.Pro74Gln	rs796052452	missense variant	-	NC_000014.9:g.28767500C>A	TOPMed,gnomAD
FOXG1	P55316	p.Pro74Gln	RCV000187437	missense variant	-	NC_000014.9:g.28767500C>A	ClinVar
FOXG1	P55316	p.Pro74Leu	rs796052452	missense variant	-	NC_000014.9:g.28767500C>T	TOPMed,gnomAD
FOXG1	P55316	p.Pro75Thr	rs924025541	missense variant	-	NC_000014.9:g.28767502C>A	TOPMed
FOXG1	P55316	p.Pro76Gln	rs1381438340	missense variant	-	NC_000014.9:g.28767506C>A	gnomAD
FOXG1	P55316	p.Pro77Leu	rs1313046455	missense variant	-	NC_000014.9:g.28767509C>T	TOPMed,gnomAD
FOXG1	P55316	p.Pro77Gln	rs1313046455	missense variant	-	NC_000014.9:g.28767509C>A	TOPMed,gnomAD
FOXG1	P55316	p.Pro77Ter	RCV000187487	frameshift	-	NC_000014.9:g.28767504_28767505delinsACCG	ClinVar
FOXG1	P55316	p.Pro78Ala	rs1210322995	missense variant	-	NC_000014.9:g.28767511C>G	TOPMed
FOXG1	P55316	p.Pro78Leu	rs936732769	missense variant	-	NC_000014.9:g.28767512C>T	TOPMed,gnomAD
FOXG1	P55316	p.Pro78Gln	rs936732769	missense variant	-	NC_000014.9:g.28767512C>A	TOPMed,gnomAD
FOXG1	P55316	p.Pro79His	rs1353726915	missense variant	-	NC_000014.9:g.28767515C>A	gnomAD
FOXG1	P55316	p.Pro79Ser	rs1054291031	missense variant	-	NC_000014.9:g.28767514C>T	TOPMed,gnomAD
FOXG1	P55316	p.Pro79Thr	rs1054291031	missense variant	-	NC_000014.9:g.28767514C>A	TOPMed,gnomAD
FOXG1	P55316	p.Ala81Thr	rs1240859292	missense variant	-	NC_000014.9:g.28767520G>A	gnomAD
FOXG1	P55316	p.Ala81Ter	RCV000187474	frameshift	-	NC_000014.9:g.28767518dup	ClinVar
FOXG1	P55316	p.Pro82Gln	rs796052453	missense variant	-	NC_000014.9:g.28767524C>A	TOPMed,gnomAD
FOXG1	P55316	p.Pro82Gln	RCV000716271	missense variant	History of neurodevelopmental disorder	NC_000014.9:g.28767524C>A	ClinVar
FOXG1	P55316	p.Pro82Gln	RCV000648322	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767524C>A	ClinVar
FOXG1	P55316	p.Pro84Leu	rs866815665	missense variant	-	NC_000014.9:g.28767530C>T	TOPMed,gnomAD
FOXG1	P55316	p.Pro84Arg	RCV000312432	missense variant	-	NC_000014.9:g.28767530C>G	ClinVar
FOXG1	P55316	p.Pro84Arg	RCV000544943	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767530C>G	ClinVar
FOXG1	P55316	p.Pro84His	RCV000585314	missense variant	-	NC_000014.9:g.28767530C>A	ClinVar
FOXG1	P55316	p.Pro84Arg	rs866815665	missense variant	-	NC_000014.9:g.28767530C>G	TOPMed,gnomAD
FOXG1	P55316	p.Pro84His	rs866815665	missense variant	-	NC_000014.9:g.28767530C>A	TOPMed,gnomAD
FOXG1	P55316	p.Gln86Glu	rs398124202	missense variant	-	NC_000014.9:g.28767535C>G	TOPMed
FOXG1	P55316	p.Gln86Lys	RCV000081279	missense variant	-	NC_000014.9:g.28767535C>A	ClinVar
FOXG1	P55316	p.Gln86Glu	RCV000436439	missense variant	-	NC_000014.9:g.28767535C>G	ClinVar
FOXG1	P55316	p.Gln86Ter	RCV000187488	frameshift	-	NC_000014.9:g.28767535dup	ClinVar
FOXG1	P55316	p.Gln86Lys	RCV000692323	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767535C>A	ClinVar
FOXG1	P55316	p.Gln86Ter	RCV000170072	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28767535C>T	ClinVar
FOXG1	P55316	p.Gln86Ter	RCV000170073	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767535del	ClinVar
FOXG1	P55316	p.Gln86Lys	rs398124202	missense variant	-	NC_000014.9:g.28767535C>A	TOPMed
FOXG1	P55316	p.Gln86Ter	RCV000187475	frameshift	-	NC_000014.9:g.28767535del	ClinVar
FOXG1	P55316	p.Gln86Ter	RCV000170074	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767535dup	ClinVar
FOXG1	P55316	p.Gln86Ter	rs398124202	stop gained	-	NC_000014.9:g.28767535C>T	TOPMed
FOXG1	P55316	p.Thr87Pro	RCV000716686	missense variant	History of neurodevelopmental disorder	NC_000014.9:g.28767538A>C	ClinVar
FOXG1	P55316	p.Arg88Gln	rs1046668279	missense variant	-	NC_000014.9:g.28767542G>A	TOPMed
FOXG1	P55316	p.Arg88Ter	RCV000145987	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767542_28767557del	ClinVar
FOXG1	P55316	p.Arg88Gln	RCV000607252	missense variant	-	NC_000014.9:g.28767542G>A	ClinVar
FOXG1	P55316	p.Ala90Thr	rs906816341	missense variant	-	NC_000014.9:g.28767547G>A	TOPMed
FOXG1	P55316	p.Ala90Ser	RCV000440344	missense variant	-	NC_000014.9:g.28767547G>T	ClinVar
FOXG1	P55316	p.Ala90Ser	rs906816341	missense variant	-	NC_000014.9:g.28767547G>T	TOPMed
FOXG1	P55316	p.Pro91Thr	rs1555321245	missense variant	-	NC_000014.9:g.28767550C>A	-
FOXG1	P55316	p.Pro91Thr	RCV000542747	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767550C>A	ClinVar
FOXG1	P55316	p.Ala92Val	rs1057520147	missense variant	-	NC_000014.9:g.28767554C>T	TOPMed
FOXG1	P55316	p.Ala92Val	RCV000685886	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767554C>T	ClinVar
FOXG1	P55316	p.Ala92Val	RCV000429748	missense variant	-	NC_000014.9:g.28767554C>T	ClinVar
FOXG1	P55316	p.Ala93Thr	rs1443045749	missense variant	-	NC_000014.9:g.28767556G>A	gnomAD
FOXG1	P55316	p.Asp94Ala	rs1206977063	missense variant	-	NC_000014.9:g.28767560A>C	TOPMed
FOXG1	P55316	p.Asp94Asn	rs1386898320	missense variant	-	NC_000014.9:g.28767559G>A	TOPMed,gnomAD
FOXG1	P55316	p.Asp94Ala	RCV000701496	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767560A>C	ClinVar
FOXG1	P55316	p.Asp96Gly	rs1384097436	missense variant	-	NC_000014.9:g.28767566A>G	TOPMed,gnomAD
FOXG1	P55316	p.Asp96Ala	rs1384097436	missense variant	-	NC_000014.9:g.28767566A>C	TOPMed,gnomAD
FOXG1	P55316	p.Pro99Leu	rs1233841978	missense variant	-	NC_000014.9:g.28767575C>T	TOPMed
FOXG1	P55316	p.Gln100Ter	RCV000187476	frameshift	-	NC_000014.9:g.28767577del	ClinVar
FOXG1	P55316	p.Gln100Ter	RCV000145988	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767577del	ClinVar
FOXG1	P55316	p.Gln101His	rs1161288100	missense variant	-	NC_000014.9:g.28767582G>T	gnomAD
FOXG1	P55316	p.Leu103Gln	rs1276635464	missense variant	-	NC_000014.9:g.28767587T>A	TOPMed
FOXG1	P55316	p.Pro107Thr	rs765282843	missense variant	-	NC_000014.9:g.28767598C>A	ExAC,gnomAD
FOXG1	P55316	p.Pro109Thr	rs1313908557	missense variant	-	NC_000014.9:g.28767604C>A	TOPMed,gnomAD
FOXG1	P55316	p.Pro109Leu	RCV000723692	missense variant	-	NC_000014.9:g.28767605C>T	ClinVar
FOXG1	P55316	p.Pro109Leu	rs398124203	missense variant	-	NC_000014.9:g.28767605C>T	TOPMed,gnomAD
FOXG1	P55316	p.Pro109Ser	rs1313908557	missense variant	-	NC_000014.9:g.28767604C>T	TOPMed,gnomAD
FOXG1	P55316	p.Pro112Leu	rs1285352804	missense variant	-	NC_000014.9:g.28767614C>T	gnomAD
FOXG1	P55316	p.Pro112Leu	RCV000612307	missense variant	-	NC_000014.9:g.28767614C>T	ClinVar
FOXG1	P55316	p.Ala115Val	rs796052454	missense variant	-	NC_000014.9:g.28767623C>T	TOPMed,gnomAD
FOXG1	P55316	p.Ala115Val	RCV000187440	missense variant	-	NC_000014.9:g.28767623C>T	ClinVar
FOXG1	P55316	p.Ala115Gly	rs796052454	missense variant	-	NC_000014.9:g.28767623C>G	TOPMed,gnomAD
FOXG1	P55316	p.Asp117Asn	rs1282829898	missense variant	-	NC_000014.9:g.28767628G>A	gnomAD
FOXG1	P55316	p.Gly118Arg	rs1316867873	missense variant	-	NC_000014.9:g.28767631G>A	gnomAD
FOXG1	P55316	p.Ala119Ser	rs796052459	missense variant	-	NC_000014.9:g.28767634G>T	TOPMed,gnomAD
FOXG1	P55316	p.Ala119Ser	RCV000187452	missense variant	-	NC_000014.9:g.28767634G>T	ClinVar
FOXG1	P55316	p.Lys120Ile	rs1460217602	missense variant	-	NC_000014.9:g.28767638A>T	gnomAD
FOXG1	P55316	p.Ala121Ser	rs1184220259	missense variant	-	NC_000014.9:g.28767640G>T	TOPMed
FOXG1	P55316	p.Gly123Arg	rs758610493	missense variant	-	NC_000014.9:g.28767646G>A	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Gly123Arg	rs758610493	missense variant	-	NC_000014.9:g.28767646G>C	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Gly126Ser	rs796052455	missense variant	-	NC_000014.9:g.28767655G>A	TOPMed,gnomAD
FOXG1	P55316	p.Gly126Ser	RCV000695180	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767655G>A	ClinVar
FOXG1	P55316	p.Gly128Cys	rs1029176730	missense variant	-	NC_000014.9:g.28767661G>T	TOPMed
FOXG1	P55316	p.Glu129Ter	rs1555321264	stop gained	-	NC_000014.9:g.28767664G>T	-
FOXG1	P55316	p.Glu129Ter	RCV000519730	nonsense	-	NC_000014.9:g.28767664G>T	ClinVar
FOXG1	P55316	p.Glu129Ter	RCV000187478	frameshift	-	NC_000014.9:g.28767662dup	ClinVar
FOXG1	P55316	p.Pro134Ser	RCV000761871	missense variant	-	NC_000014.9:g.28767679C>T	ClinVar
FOXG1	P55316	p.Pro134Ter	RCV000187479	frameshift	-	NC_000014.9:g.28767678del	ClinVar
FOXG1	P55316	p.Gly135Val	rs1350013753	missense variant	-	NC_000014.9:g.28767683G>T	TOPMed
FOXG1	P55316	p.Glu136Ter	RCV000702418	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767686_28767737del	ClinVar
FOXG1	P55316	p.Glu136Ter	RCV000425305	nonsense	-	NC_000014.9:g.28767685G>T	ClinVar
FOXG1	P55316	p.Glu136Ter	rs1057520663	stop gained	-	NC_000014.9:g.28767685G>T	-
FOXG1	P55316	p.Ala138Thr	rs1230766273	missense variant	-	NC_000014.9:g.28767691G>A	TOPMed
FOXG1	P55316	p.Pro139Ser	rs1335718381	missense variant	-	NC_000014.9:g.28767694C>T	gnomAD
FOXG1	P55316	p.Val140Ile	rs1400545711	missense variant	-	NC_000014.9:g.28767697G>A	gnomAD
FOXG1	P55316	p.Asp143Glu	rs755388144	missense variant	-	NC_000014.9:g.28767708C>G	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Asp143Glu	rs755388144	missense variant	-	NC_000014.9:g.28767708C>A	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Glu144Lys	rs797045583	missense variant	-	NC_000014.9:g.28767709G>A	-
FOXG1	P55316	p.Glu144Asp	RCV000704363	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767711G>C	ClinVar
FOXG1	P55316	p.Glu144Asp	rs547825816	missense variant	-	NC_000014.9:g.28767711G>C	1000Genomes,TOPMed,gnomAD
FOXG1	P55316	p.Glu144Lys	RCV000766682	missense variant	-	NC_000014.9:g.28767709G>A	ClinVar
FOXG1	P55316	p.Glu144Lys	RCV000192946	missense variant	-	NC_000014.9:g.28767709G>A	ClinVar
FOXG1	P55316	p.Glu146Ter	rs1555321279	stop gained	-	NC_000014.9:g.28767715G>T	-
FOXG1	P55316	p.Glu146Ter	RCV000497737	nonsense	-	NC_000014.9:g.28767715G>T	ClinVar
FOXG1	P55316	p.Glu146Gly	RCV000437019	missense variant	-	NC_000014.9:g.28767716A>G	ClinVar
FOXG1	P55316	p.Glu146Val	rs923912596	missense variant	-	NC_000014.9:g.28767716A>T	TOPMed
FOXG1	P55316	p.Glu146Gly	rs923912596	missense variant	-	NC_000014.9:g.28767716A>G	TOPMed
FOXG1	P55316	p.Lys147Arg	rs1417091060	missense variant	-	NC_000014.9:g.28767719A>G	TOPMed
FOXG1	P55316	p.Gly148Val	rs781726187	missense variant	-	NC_000014.9:g.28767722G>T	ExAC,gnomAD
FOXG1	P55316	p.Gly148Cys	rs1439805594	missense variant	-	NC_000014.9:g.28767721G>T	gnomAD
FOXG1	P55316	p.Gly148Asp	rs781726187	missense variant	-	NC_000014.9:g.28767722G>A	ExAC,gnomAD
FOXG1	P55316	p.Ala149Val	rs748639652	missense variant	-	NC_000014.9:g.28767725C>T	ExAC,gnomAD
FOXG1	P55316	p.Gly150Ser	rs1191765711	missense variant	-	NC_000014.9:g.28767727G>A	gnomAD
FOXG1	P55316	p.Ala151Val	rs1237893902	missense variant	-	NC_000014.9:g.28767731C>T	TOPMed
FOXG1	P55316	p.Gly152Glu	rs796052460	missense variant	-	NC_000014.9:g.28767734G>A	TOPMed,gnomAD
FOXG1	P55316	p.Gly152Arg	rs1365260962	missense variant	-	NC_000014.9:g.28767733G>A	gnomAD
FOXG1	P55316	p.Gly152Ala	RCV000648317	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767734G>C	ClinVar
FOXG1	P55316	p.Gly152Glu	RCV000187453	missense variant	-	NC_000014.9:g.28767734G>A	ClinVar
FOXG1	P55316	p.Gly152Ala	rs796052460	missense variant	-	NC_000014.9:g.28767734G>C	TOPMed,gnomAD
FOXG1	P55316	p.Gly153Val	rs1555321286	missense variant	-	NC_000014.9:g.28767737G>T	-
FOXG1	P55316	p.Gly153Val	RCV000585847	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767737G>T	ClinVar
FOXG1	P55316	p.Glu154Gly	rs1289828874	missense variant	-	NC_000014.9:g.28767740A>G	TOPMed
FOXG1	P55316	p.Glu154Ter	rs1057520780	stop gained	-	NC_000014.9:g.28767739G>T	-
FOXG1	P55316	p.Glu154Ter	RCV000715099	frameshift	History of neurodevelopmental disorder	NC_000014.9:g.28767739dup	ClinVar
FOXG1	P55316	p.Glu154Ter	RCV000170075	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767739dup	ClinVar
FOXG1	P55316	p.Glu154Ter	RCV000209851	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767739del	ClinVar
FOXG1	P55316	p.Glu154Ter	RCV000414502	frameshift	-	NC_000014.9:g.28767739del	ClinVar
FOXG1	P55316	p.Glu154Ter	RCV000081281	frameshift	-	NC_000014.9:g.28767739dup	ClinVar
FOXG1	P55316	p.Glu154Ter	RCV000429306	nonsense	-	NC_000014.9:g.28767739G>T	ClinVar
FOXG1	P55316	p.Lys156Glu	rs1411303171	missense variant	-	NC_000014.9:g.28767745A>G	TOPMed,gnomAD
FOXG1	P55316	p.Lys157Asn	rs398124205	missense variant	-	NC_000014.9:g.28767750G>T	TOPMed,gnomAD
FOXG1	P55316	p.Lys157Arg	rs1326381429	missense variant	-	NC_000014.9:g.28767749A>G	gnomAD
FOXG1	P55316	p.Lys157Asn	RCV000681508	missense variant	-	NC_000014.9:g.28767750G>T	ClinVar
FOXG1	P55316	p.Ala159Ser	rs1436573424	missense variant	-	NC_000014.9:g.28767754G>T	gnomAD
FOXG1	P55316	p.Ala159Val	rs773880966	missense variant	-	NC_000014.9:g.28767755C>T	ExAC,gnomAD
FOXG1	P55316	p.Gly160Asp	rs1344152865	missense variant	-	NC_000014.9:g.28767758G>A	gnomAD
FOXG1	P55316	p.Gly162Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767763G>T	NCI-TCGA
FOXG1	P55316	p.Asp165Glu	rs775314145	missense variant	-	NC_000014.9:g.28767774C>A	ExAC,gnomAD
FOXG1	P55316	p.Gly166Arg	rs1403385097	missense variant	-	NC_000014.9:g.28767775G>A	gnomAD
FOXG1	P55316	p.Gly166Glu	rs760578111	missense variant	-	NC_000014.9:g.28767776G>A	ExAC,gnomAD
FOXG1	P55316	p.Glu167Asp	rs773297334	missense variant	-	NC_000014.9:g.28767780G>T	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Glu167Ter	RCV000525648	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767779del	ClinVar
FOXG1	P55316	p.Glu167Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767778G>C	NCI-TCGA
FOXG1	P55316	p.Gly168Ala	rs148157138	missense variant	-	NC_000014.9:g.28767782G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Gly168Val	rs148157138	missense variant	-	NC_000014.9:g.28767782G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Gly168Ala	RCV000719539	missense variant	History of neurodevelopmental disorder	NC_000014.9:g.28767782G>C	ClinVar
FOXG1	P55316	p.Gly168Ala	RCV000187444	missense variant	-	NC_000014.9:g.28767782G>C	ClinVar
FOXG1	P55316	p.Gly168Val	RCV000187454	missense variant	-	NC_000014.9:g.28767782G>T	ClinVar
FOXG1	P55316	p.Gly168Ala	RCV000540363	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767782G>C	ClinVar
FOXG1	P55316	p.Gly169Ser	rs530084654	missense variant	-	NC_000014.9:g.28767784G>A	1000Genomes
FOXG1	P55316	p.Gly169Val	rs796052480	missense variant	-	NC_000014.9:g.28767785G>T	TOPMed,gnomAD
FOXG1	P55316	p.Gly169Asp	rs796052480	missense variant	-	NC_000014.9:g.28767785G>A	TOPMed,gnomAD
FOXG1	P55316	p.Gly169Ter	RCV000502824	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767784_28767785delinsC	ClinVar
FOXG1	P55316	p.Gly169Ter	RCV000170076	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767784_28767785delinsT	ClinVar
FOXG1	P55316	p.Gly169Ala	RCV000187482	missense variant	-	NC_000014.9:g.28767785G>C	ClinVar
FOXG1	P55316	p.Gly169Val	RCV000603964	missense variant	-	NC_000014.9:g.28767785G>T	ClinVar
FOXG1	P55316	p.Gly169Ala	rs796052480	missense variant	-	NC_000014.9:g.28767785G>C	TOPMed,gnomAD
FOXG1	P55316	p.Gly169Ter	RCV000541926	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767785del	ClinVar
FOXG1	P55316	p.Lys170Ter	RCV000599217	frameshift	-	NC_000014.9:g.28767785dup	ClinVar
FOXG1	P55316	p.Glu171Ter	rs1057517859	stop gained	-	NC_000014.9:g.28767790G>T	-
FOXG1	P55316	p.Glu171Ter	RCV000413843	nonsense	-	NC_000014.9:g.28767790G>T	ClinVar
FOXG1	P55316	p.Gly172Asp	rs766545074	missense variant	-	NC_000014.9:g.28767794G>A	ExAC,gnomAD
FOXG1	P55316	p.Lys174Arg	rs751714163	missense variant	-	NC_000014.9:g.28767800A>G	ExAC,gnomAD
FOXG1	P55316	p.Lys175Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767803A>G	NCI-TCGA
FOXG1	P55316	p.Lys178Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767812A>C	NCI-TCGA
FOXG1	P55316	p.Tyr179Ter	RCV000519246	nonsense	-	NC_000014.9:g.28767816C>G	ClinVar
FOXG1	P55316	p.Tyr179Ter	rs1555321301	stop gained	-	NC_000014.9:g.28767816C>G	-
FOXG1	P55316	p.Glu180Ter	rs1555321302	stop gained	-	NC_000014.9:g.28767817G>T	-
FOXG1	P55316	p.Glu180Ter	RCV000498138	nonsense	-	NC_000014.9:g.28767817G>T	ClinVar
FOXG1	P55316	p.Lys181Asn	rs767961672	missense variant	-	NC_000014.9:g.28767822G>T	ExAC,gnomAD
FOXG1	P55316	p.Lys181Asn	RCV000408627	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767822G>T	ClinVar
FOXG1	P55316	p.Pro182Leu	rs796052461	missense variant	-	NC_000014.9:g.28767824C>T	-
FOXG1	P55316	p.Pro182Leu	RCV000414887	missense variant	Severe intellectual deficiency	NC_000014.9:g.28767824C>T	ClinVar
FOXG1	P55316	p.Pro183Arg	rs1167165807	missense variant	-	NC_000014.9:g.28767827C>G	TOPMed
FOXG1	P55316	p.Pro183Leu	COSM1369447	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767827C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Phe184Leu	COSM3793634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767831C>G	NCI-TCGA Cosmic
FOXG1	P55316	p.Ser185Cys	rs879255530	missense variant	-	NC_000014.9:g.28767832A>T	-
FOXG1	P55316	p.Ser185Cys	RCV000239423	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767832A>T	ClinVar
FOXG1	P55316	p.Ser185Ile	RCV000408825	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767833G>T	ClinVar
FOXG1	P55316	p.Ser185Ile	rs1057516138	missense variant	-	NC_000014.9:g.28767833G>T	-
FOXG1	P55316	p.Ser185Ter	RCV000170077	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28767831dup	ClinVar
FOXG1	P55316	p.Asn187Lys	rs796052462	missense variant	-	NC_000014.9:g.28767840C>G	-
FOXG1	P55316	p.Asn187Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767839A>C	NCI-TCGA
FOXG1	P55316	p.Asn187Lys	RCV000624779	missense variant	Inborn genetic diseases	NC_000014.9:g.28767840C>G	ClinVar
FOXG1	P55316	p.Asn187Lys	RCV000255136	missense variant	-	NC_000014.9:g.28767840C>G	ClinVar
FOXG1	P55316	p.Asn187Lys	RCV000190704	missense variant	Inborn genetic diseases	NC_000014.9:g.28767840C>A	ClinVar
FOXG1	P55316	p.Asn187Lys	rs796052462	missense variant	-	NC_000014.9:g.28767840C>A	-
FOXG1	P55316	p.Asn187Lys	RCV000187456	missense variant	-	NC_000014.9:g.28767840C>A	ClinVar
FOXG1	P55316	p.Ala188Gly	rs587783638	missense variant	-	NC_000014.9:g.28767842C>G	-
FOXG1	P55316	p.Ala188Gly	RCV000145992	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767842C>G	ClinVar
FOXG1	P55316	p.Ala188Val	COSM1252704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767842C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Ala188Thr	COSM1207416	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767841G>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Leu189Val	RCV000659679	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767844C>G	ClinVar
FOXG1	P55316	p.Leu189Val	rs1555321308	missense variant	-	NC_000014.9:g.28767844C>G	-
FOXG1	P55316	p.Met191Ile	rs1555321311	missense variant	-	NC_000014.9:g.28767852G>A	-
FOXG1	P55316	p.Met191Ile	RCV000522911	missense variant	-	NC_000014.9:g.28767852G>A	ClinVar
FOXG1	P55316	p.Met191Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767852G>C	NCI-TCGA
FOXG1	P55316	p.Met191Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767850A>G	NCI-TCGA
FOXG1	P55316	p.Met191Arg	VAR_078715	Missense	-	-	UniProt
FOXG1	P55316	p.Ala193Thr	rs786205005	missense variant	-	NC_000014.9:g.28767856G>A	-
FOXG1	P55316	p.Ala193Thr	RCV000170078	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767856G>A	ClinVar
FOXG1	P55316	p.Ala193Thr	RCV000624178	missense variant	Inborn genetic diseases	NC_000014.9:g.28767856G>A	ClinVar
FOXG1	P55316	p.Arg195Trp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767862C>T	NCI-TCGA
FOXG1	P55316	p.ArgGln195ArgTer	rs1064797030	stop gained	-	NC_000014.9:g.28767864_28767865delinsTT	-
FOXG1	P55316	p.Gln196Ter	rs796052463	stop gained	-	NC_000014.9:g.28767865C>T	-
FOXG1	P55316	p.Gln196Ter	RCV000480058	nonsense	-	NC_000014.9:g.28767864_28767865delinsTT	ClinVar
FOXG1	P55316	p.Gln196Ter	RCV000187457	nonsense	-	NC_000014.9:g.28767865C>T	ClinVar
FOXG1	P55316	p.Arg201Gly	rs745486814	missense variant	-	NC_000014.9:g.28767880C>G	ExAC,gnomAD
FOXG1	P55316	p.Leu204Phe	rs786205006	missense variant	-	NC_000014.9:g.28767889C>T	-
FOXG1	P55316	p.Leu204Phe	RCV000170079	missense variant	-	NC_000014.9:g.28767889C>T	ClinVar
FOXG1	P55316	p.Gly206Ser	rs1284868040	missense variant	-	NC_000014.9:g.28767895G>A	gnomAD
FOXG1	P55316	p.Tyr208Ter	RCV000014883	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28767903C>G	ClinVar
FOXG1	P55316	p.Tyr208Ter	RCV000550163	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28767903C>A	ClinVar
FOXG1	P55316	p.Tyr208Ter	rs267606826	stop gained	-	NC_000014.9:g.28767903C>A	ExAC,gnomAD
FOXG1	P55316	p.Tyr208Ter	rs267606826	stop gained	-	NC_000014.9:g.28767903C>G	ExAC,gnomAD
FOXG1	P55316	p.Tyr208Ter	RCV000760384	nonsense	-	NC_000014.9:g.28767903C>G	ClinVar
FOXG1	P55316	p.Glu209Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767905A>G	NCI-TCGA
FOXG1	P55316	p.Glu209Lys	COSM260984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767904G>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Phe210Leu	COSM3782835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767907T>C	NCI-TCGA Cosmic
FOXG1	P55316	p.Ile211Thr	COSM4050369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767911T>C	NCI-TCGA Cosmic
FOXG1	P55316	p.Met212Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767915G>T	NCI-TCGA
FOXG1	P55316	p.Lys213Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767918G>T	NCI-TCGA
FOXG1	P55316	p.Phe215Leu	RCV000014884	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767922T>C	ClinVar
FOXG1	P55316	p.Phe215Ser	rs786204998	missense variant	-	NC_000014.9:g.28767923_28767924delinsCT	-
FOXG1	P55316	p.Phe215Leu	RCV000414314	missense variant	-	NC_000014.9:g.28767924C>G	ClinVar
FOXG1	P55316	p.Phe215Ser	RCV000170068	missense variant	-	NC_000014.9:g.28767923_28767924delinsCT	ClinVar
FOXG1	P55316	p.Phe215Leu	rs1057518165	missense variant	-	NC_000014.9:g.28767924C>G	gnomAD
FOXG1	P55316	p.Phe215Leu	rs267606828	missense variant	-	NC_000014.9:g.28767922T>C	-
FOXG1	P55316	p.Phe215Leu	rs267606828	missense variant	Rett syndrome congenital variant (RTTCV)	NC_000014.9:g.28767922T>C	UniProt,dbSNP
FOXG1	P55316	p.Phe215Leu	VAR_063885	missense variant	Rett syndrome congenital variant (RTTCV)	NC_000014.9:g.28767922T>C	UniProt
FOXG1	P55316	p.Pro216Ser	rs548935590	missense variant	-	NC_000014.9:g.28767925C>T	1000Genomes,ExAC,gnomAD
FOXG1	P55316	p.Tyr217Ter	RCV000187458	nonsense	-	NC_000014.9:g.28767930C>G	ClinVar
FOXG1	P55316	p.Tyr217Ter	RCV000339867	frameshift	-	NC_000014.9:g.28767927_28767934del	ClinVar
FOXG1	P55316	p.Tyr217Ter	rs796052464	stop gained	-	NC_000014.9:g.28767930C>G	-
FOXG1	P55316	p.Tyr217_His489del	VAR_078716	inframe_deletion	Rett syndrome congenital variant (RTTCV) [MIM:613454]	-	UniProt
FOXG1	P55316	p.Arg219Gly	rs1555321323	missense variant	-	NC_000014.9:g.28767934C>G	-
FOXG1	P55316	p.Arg219Gly	RCV000585867	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767934C>G	ClinVar
FOXG1	P55316	p.Glu220Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767937G>A	NCI-TCGA
FOXG1	P55316	p.Gln223Ter	RCV000187459	nonsense	-	NC_000014.9:g.28767946C>T	ClinVar
FOXG1	P55316	p.Gln223His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767948G>T	NCI-TCGA
FOXG1	P55316	p.Gln223Ter	rs796052465	stop gained	-	NC_000014.9:g.28767946C>T	-
FOXG1	P55316	p.Gly224Asp	rs796052481	missense variant	-	NC_000014.9:g.28767950G>A	-
FOXG1	P55316	p.Gly224Asp	RCV000187483	missense variant	-	NC_000014.9:g.28767950G>A	ClinVar
FOXG1	P55316	p.Gly224Ser	RCV000500932	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767949G>A	ClinVar
FOXG1	P55316	p.Gly224Ser	rs727503935	missense variant	-	NC_000014.9:g.28767949G>A	-
FOXG1	P55316	p.Trp225Ser	RCV000488331	missense variant	-	NC_000014.9:g.28767953G>C	ClinVar
FOXG1	P55316	p.Trp225Ser	rs1064797185	missense variant	-	NC_000014.9:g.28767953G>C	-
FOXG1	P55316	p.Gln226Ter	rs1131691540	stop gained	-	NC_000014.9:g.28767955C>T	-
FOXG1	P55316	p.Gln226Ter	RCV000493262	nonsense	-	NC_000014.9:g.28767955C>T	ClinVar
FOXG1	P55316	p.Asn227Lys	RCV000170086	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767960C>G	ClinVar
FOXG1	P55316	p.Asn227Lys	rs786205012	missense variant	-	NC_000014.9:g.28767960C>G	-
FOXG1	P55316	p.Ser228Pro	rs1423445999	missense variant	-	NC_000014.9:g.28767961T>C	gnomAD
FOXG1	P55316	p.Ile229Asn	rs199502880	missense variant	-	NC_000014.9:g.28767965T>A	gnomAD
FOXG1	P55316	p.Ile229Leu	rs1064797186	missense variant	-	NC_000014.9:g.28767964A>C	-
FOXG1	P55316	p.Ile229Leu	RCV000503039	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767964A>C	ClinVar
FOXG1	P55316	p.Ile229Thr	rs199502880	missense variant	-	NC_000014.9:g.28767965T>C	gnomAD
FOXG1	P55316	p.Arg230Leu	RCV000395229	missense variant	-	NC_000014.9:g.28767968G>T	ClinVar
FOXG1	P55316	p.Arg230His	RCV000170080	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767968G>A	ClinVar
FOXG1	P55316	p.Arg230Leu	rs786205007	missense variant	-	NC_000014.9:g.28767968G>T	-
FOXG1	P55316	p.Arg230His	rs786205007	missense variant	-	NC_000014.9:g.28767968G>A	-
FOXG1	P55316	p.Arg230Gly	COSM4050370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767967C>G	NCI-TCGA Cosmic
FOXG1	P55316	p.Asn232Asp	rs786205486	missense variant	-	NC_000014.9:g.28767973A>G	-
FOXG1	P55316	p.Asn232Tyr	rs786205486	missense variant	-	NC_000014.9:g.28767973A>T	-
FOXG1	P55316	p.Asn232Asp	RCV000648315	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767973A>G	ClinVar
FOXG1	P55316	p.Asn232Tyr	RCV000171221	missense variant	-	NC_000014.9:g.28767973A>T	ClinVar
FOXG1	P55316	p.Asn232Ser	VAR_078717	Missense	-	-	UniProt
FOXG1	P55316	p.Ser234Pro	rs786205008	missense variant	-	NC_000014.9:g.28767979T>C	-
FOXG1	P55316	p.Ser234Pro	RCV000170081	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767979T>C	ClinVar
FOXG1	P55316	p.Ser234Ala	COSM3401280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767979T>G	NCI-TCGA Cosmic
FOXG1	P55316	p.Leu235Ter	RCV000485796	frameshift	-	NC_000014.9:g.28767982del	ClinVar
FOXG1	P55316	p.Leu235Phe	RCV000706347	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767982C>T	ClinVar
FOXG1	P55316	p.Asn236Lys	RCV000187464	missense variant	-	NC_000014.9:g.28767987C>A	ClinVar
FOXG1	P55316	p.Asn236Lys	rs796052468	missense variant	-	NC_000014.9:g.28767987C>A	-
FOXG1	P55316	p.Lys237Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767989A>G	NCI-TCGA
FOXG1	P55316	p.Cys238Tyr	RCV000504441	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28767992G>A	ClinVar
FOXG1	P55316	p.Cys238Tyr	rs1555321337	missense variant	-	NC_000014.9:g.28767992G>A	-
FOXG1	P55316	p.Cys238Ser	COSM4050371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28767991T>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Phe239Leu	rs1555321339	missense variant	-	NC_000014.9:g.28767996C>G	-
FOXG1	P55316	p.Phe239Leu	RCV000622701	missense variant	Inborn genetic diseases	NC_000014.9:g.28767996C>G	ClinVar
FOXG1	P55316	p.Phe239Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28767994T>C	NCI-TCGA
FOXG1	P55316	p.Val240Gly	rs1064796823	missense variant	-	NC_000014.9:g.28767998T>G	-
FOXG1	P55316	p.Val240Gly	RCV000480860	missense variant	-	NC_000014.9:g.28767998T>G	ClinVar
FOXG1	P55316	p.Val242Met	COSM3690052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768003G>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Pro243Arg	rs1454795723	missense variant	-	NC_000014.9:g.28768007C>G	gnomAD
FOXG1	P55316	p.Pro243Ser	COSM5078085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768006C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Pro243Leu	COSM4050372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768007C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Arg244Cys	rs786205009	missense variant	-	NC_000014.9:g.28768009C>T	-
FOXG1	P55316	p.Arg244His	RCV000481314	missense variant	-	NC_000014.9:g.28768010G>A	ClinVar
FOXG1	P55316	p.Arg244Cys	RCV000170082	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768009C>T	ClinVar
FOXG1	P55316	p.Arg244Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768009C>A	NCI-TCGA
FOXG1	P55316	p.Arg244His	rs796052484	missense variant	-	NC_000014.9:g.28768010G>A	-
FOXG1	P55316	p.His245Ter	RCV000623057	frameshift	Inborn genetic diseases	NC_000014.9:g.28768011_28768020del	ClinVar
FOXG1	P55316	p.His245Asn	COSM698036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768012C>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Asp248Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768022A>G	NCI-TCGA
FOXG1	P55316	p.Asp248Asn	COSM698035	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768021G>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Gly250Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768027G>T	NCI-TCGA
FOXG1	P55316	p.Gly252Val	rs587783640	missense variant	-	NC_000014.9:g.28768034G>T	-
FOXG1	P55316	p.Gly252Val	RCV000170083	missense variant	-	NC_000014.9:g.28768034G>T	ClinVar
FOXG1	P55316	p.Asn253Asp	RCV000145995	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768036A>G	ClinVar
FOXG1	P55316	p.Asn253Asp	rs587783641	missense variant	-	NC_000014.9:g.28768036A>G	-
FOXG1	P55316	p.Tyr254Cys	rs1085307966	missense variant	-	NC_000014.9:g.28768040A>G	-
FOXG1	P55316	p.Tyr254Ter	rs587783642	stop gained	-	NC_000014.9:g.28768041C>G	-
FOXG1	P55316	p.Tyr254Cys	RCV000489969	missense variant	-	NC_000014.9:g.28768040A>G	ClinVar
FOXG1	P55316	p.Tyr254Ter	RCV000145996	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768041C>G	ClinVar
FOXG1	P55316	p.Trp255Cys	rs121913678	missense variant	-	NC_000014.9:g.28768044G>T	-
FOXG1	P55316	p.Trp255Ter	rs121913678	stop gained	-	NC_000014.9:g.28768044G>A	-
FOXG1	P55316	p.Trp255Ter	rs1555321351	stop gained	-	NC_000014.9:g.28768043G>A	-
FOXG1	P55316	p.Trp255Cys	RCV000145997	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768044G>T	ClinVar
FOXG1	P55316	p.Trp255Ter	RCV000014881	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768044G>A	ClinVar
FOXG1	P55316	p.Trp255Arg	RCV000760276	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768042T>A	ClinVar
FOXG1	P55316	p.Trp255Ter	RCV000585809	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768043G>A	ClinVar
FOXG1	P55316	p.Leu257Pro	RCV000656311	missense variant	-	NC_000014.9:g.28768049T>C	ClinVar
FOXG1	P55316	p.Leu257Pro	rs1555321353	missense variant	-	NC_000014.9:g.28768049T>C	-
FOXG1	P55316	p.Pro259Arg	RCV000210671	missense variant	Inborn genetic diseases	NC_000014.9:g.28768055C>G	ClinVar
FOXG1	P55316	p.Pro259Arg	rs869312961	missense variant	-	NC_000014.9:g.28768055C>G	-
FOXG1	P55316	p.Asp263Ter	RCV000170084	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28768067_28768071del	ClinVar
FOXG1	P55316	p.Val264Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768069G>A	NCI-TCGA
FOXG1	P55316	p.Ile266Asn	rs886041744	missense variant	-	NC_000014.9:g.28768076T>A	-
FOXG1	P55316	p.Ile266Asn	RCV000325789	missense variant	-	NC_000014.9:g.28768076T>A	ClinVar
FOXG1	P55316	p.Gly267Ser	rs587783643	missense variant	-	NC_000014.9:g.28768078G>A	-
FOXG1	P55316	p.Gly267Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768079G>A	NCI-TCGA
FOXG1	P55316	p.Gly267Ser	RCV000480864	missense variant	-	NC_000014.9:g.28768078G>A	ClinVar
FOXG1	P55316	p.Gly268Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768082G>A	NCI-TCGA
FOXG1	P55316	p.Gly268Arg	COSM6140353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768081G>C	NCI-TCGA Cosmic
FOXG1	P55316	p.Thr269Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768085C>T	NCI-TCGA
FOXG1	P55316	p.Thr269Pro	COSM3885990	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768084A>C	NCI-TCGA Cosmic
FOXG1	P55316	p.Thr270Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768087A>C	NCI-TCGA
FOXG1	P55316	p.Thr270Ala	rs1461591340	missense variant	-	NC_000014.9:g.28768087A>G	gnomAD
FOXG1	P55316	p.Gly271Asp	rs796052469	missense variant	-	NC_000014.9:g.28768091G>A	-
FOXG1	P55316	p.Gly271Asp	RCV000803740	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768091G>A	ClinVar
FOXG1	P55316	p.Gly271Asp	RCV000187466	missense variant	-	NC_000014.9:g.28768091G>A	ClinVar
FOXG1	P55316	p.Arg274Gln	rs869312700	missense variant	-	NC_000014.9:g.28768100G>A	-
FOXG1	P55316	p.Arg274Gln	RCV000209877	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768100G>A	ClinVar
FOXG1	P55316	p.Arg274Trp	COSM266557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768099C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Arg275Pro	rs1555321361	missense variant	-	NC_000014.9:g.28768103G>C	-
FOXG1	P55316	p.Arg275Pro	RCV000505226	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768103G>C	ClinVar
FOXG1	P55316	p.Arg275His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768103G>A	NCI-TCGA
FOXG1	P55316	p.Arg275Cys	COSM5342443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768102C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Arg276His	rs1181932231	missense variant	-	NC_000014.9:g.28768106G>A	gnomAD
FOXG1	P55316	p.Thr278Ala	COSM4050374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768111A>G	NCI-TCGA Cosmic
FOXG1	P55316	p.Arg281Pro	COSM6075627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768121G>C	NCI-TCGA Cosmic
FOXG1	P55316	p.Ala282Ser	rs796052470	missense variant	-	NC_000014.9:g.28768123G>T	gnomAD
FOXG1	P55316	p.Ala282ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.28768121G>-	NCI-TCGA
FOXG1	P55316	p.Ala282Thr	RCV000187467	missense variant	-	NC_000014.9:g.28768123G>A	ClinVar
FOXG1	P55316	p.Ala282Thr	rs796052470	missense variant	-	NC_000014.9:g.28768123G>A	gnomAD
FOXG1	P55316	p.Ala282Val	COSM3690053	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768124C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Lys283Arg	COSM4050375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768127A>G	NCI-TCGA Cosmic
FOXG1	P55316	p.Phe286Leu	rs745418016	missense variant	-	NC_000014.9:g.28768137C>A	ExAC,gnomAD
FOXG1	P55316	p.Phe286Ter	RCV000627534	frameshift	-	NC_000014.9:g.28768134del	ClinVar
FOXG1	P55316	p.Lys287Ter	RCV000623492	nonsense	Inborn genetic diseases	NC_000014.9:g.28768138A>T	ClinVar
FOXG1	P55316	p.Lys287Ter	rs1555321367	stop gained	-	NC_000014.9:g.28768138A>T	-
FOXG1	P55316	p.Arg288Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768141C>T	NCI-TCGA
FOXG1	P55316	p.Arg288Ser	rs1309285440	missense variant	-	NC_000014.9:g.28768141C>A	gnomAD
FOXG1	P55316	p.Arg288His	COSM4920095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768142G>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Gly289Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768145G>A	NCI-TCGA
FOXG1	P55316	p.Thr293Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768156A>G	NCI-TCGA
FOXG1	P55316	p.Ser294Pro	rs796052471	missense variant	-	NC_000014.9:g.28768159T>C	-
FOXG1	P55316	p.Ser294Pro	RCV000187468	missense variant	-	NC_000014.9:g.28768159T>C	ClinVar
FOXG1	P55316	p.Gly296Ter	RCV000416103	frameshift	-	NC_000014.9:g.28768164dup	ClinVar
FOXG1	P55316	p.Gly296Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768166G>T	NCI-TCGA
FOXG1	P55316	p.Met300Ile	rs866923607	missense variant	-	NC_000014.9:g.28768179G>A	-
FOXG1	P55316	p.Met300Ile	RCV000624756	missense variant	Inborn genetic diseases	NC_000014.9:g.28768179G>A	ClinVar
FOXG1	P55316	p.Arg302His	COSM3782836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768184G>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Ala303Thr	RCV000428532	missense variant	-	NC_000014.9:g.28768186G>A	ClinVar
FOXG1	P55316	p.Ala303Thr	rs779697567	missense variant	-	NC_000014.9:g.28768186G>A	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Ala303Ser	rs779697567	missense variant	-	NC_000014.9:g.28768186G>T	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Gly304Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768189G>A	NCI-TCGA
FOXG1	P55316	p.Ser305Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768193C>T	NCI-TCGA
FOXG1	P55316	p.Leu306Phe	rs998702635	missense variant	-	NC_000014.9:g.28768195C>T	TOPMed
FOXG1	P55316	p.Trp308Ter	rs267606827	stop gained	-	NC_000014.9:g.28768203G>A	-
FOXG1	P55316	p.Trp308Ter	RCV000014885	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768203G>A	ClinVar
FOXG1	P55316	p.Pro309Ser	rs1430574065	missense variant	-	NC_000014.9:g.28768204C>T	gnomAD
FOXG1	P55316	p.Ser311Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768210T>A	NCI-TCGA
FOXG1	P55316	p.Ser315Ala	rs1427613291	missense variant	-	NC_000014.9:g.28768222T>G	TOPMed
FOXG1	P55316	p.Leu316Ter	RCV000648318	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28768225del	ClinVar
FOXG1	P55316	p.Leu316Pro	COSM4050377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768226T>C	NCI-TCGA Cosmic
FOXG1	P55316	p.Pro319Arg	rs768320307	missense variant	-	NC_000014.9:g.28768235C>G	ExAC,gnomAD
FOXG1	P55316	p.Arg320Ter	RCV000599579	frameshift	-	NC_000014.9:g.28768237del	ClinVar
FOXG1	P55316	p.Arg320Ser	rs1462696621	missense variant	-	NC_000014.9:g.28768237C>A	gnomAD
FOXG1	P55316	p.Arg320Cys	rs1462696621	missense variant	-	NC_000014.9:g.28768237C>T	gnomAD
FOXG1	P55316	p.Ala321Thr	rs1268930064	missense variant	-	NC_000014.9:g.28768240G>A	gnomAD
FOXG1	P55316	p.Ser323Ter	RCV000170085	frameshift	Rett syndrome, congenital variant	NC_000014.9:g.28768248del	ClinVar
FOXG1	P55316	p.Ser326Thr	rs748001255	missense variant	-	NC_000014.9:g.28768256G>C	ExAC,gnomAD
FOXG1	P55316	p.Ser326Asn	RCV000490189	missense variant	-	NC_000014.9:g.28768256G>A	ClinVar
FOXG1	P55316	p.Ser326Asn	rs748001255	missense variant	-	NC_000014.9:g.28768256G>A	ExAC,gnomAD
FOXG1	P55316	p.Ser326Gly	rs1482445491	missense variant	-	NC_000014.9:g.28768255A>G	gnomAD
FOXG1	P55316	p.Gly329Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768264G>A	NCI-TCGA
FOXG1	P55316	p.Thr330Ser	rs150277632	missense variant	-	NC_000014.9:g.28768268C>G	ESP,TOPMed,gnomAD
FOXG1	P55316	p.Thr330Asn	rs150277632	missense variant	-	NC_000014.9:g.28768268C>A	ESP,TOPMed,gnomAD
FOXG1	P55316	p.Thr331Ala	rs759699805	missense variant	-	NC_000014.9:g.28768270A>G	ExAC,gnomAD
FOXG1	P55316	p.Ser332Ala	rs775851487	missense variant	-	NC_000014.9:g.28768273T>G	ExAC,gnomAD
FOXG1	P55316	p.Ser332Leu	COSM4050379	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768274C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Ala333Val	rs1322496307	missense variant	-	NC_000014.9:g.28768277C>T	gnomAD
FOXG1	P55316	p.Tyr334Ter	COSM5065408	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.28768281C>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Pro335Ala	rs531378284	missense variant	-	NC_000014.9:g.28768282C>G	-
FOXG1	P55316	p.His337Asn	COSM6075626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768288C>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Met339Ile	rs1252698560	missense variant	-	NC_000014.9:g.28768296G>A	gnomAD
FOXG1	P55316	p.Pro340Ser	rs1336929504	missense variant	-	NC_000014.9:g.28768297C>T	gnomAD
FOXG1	P55316	p.Pro340His	COSM6140352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768298C>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Ser343Phe	rs1490993865	missense variant	-	NC_000014.9:g.28768307C>T	gnomAD
FOXG1	P55316	p.Val344Met	rs372086115	missense variant	-	NC_000014.9:g.28768309G>A	ESP,ExAC,gnomAD
FOXG1	P55316	p.Thr346Ile	COSM3495611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768316C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Asn348His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768321A>C	NCI-TCGA
FOXG1	P55316	p.Ser349Ala	rs796052472	missense variant	-	NC_000014.9:g.28768324T>G	TOPMed,gnomAD
FOXG1	P55316	p.Ser349Ala	RCV000428947	missense variant	-	NC_000014.9:g.28768324T>G	ClinVar
FOXG1	P55316	p.Ser349Leu	COSM955144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768325C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Asn352Thr	rs1371530117	missense variant	-	NC_000014.9:g.28768334A>C	gnomAD
FOXG1	P55316	p.Asn353Ser	rs749879411	missense variant	-	NC_000014.9:g.28768337A>G	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Asn353Ter	RCV000478170	frameshift	-	NC_000014.9:g.28768337dup	ClinVar
FOXG1	P55316	p.Ser355Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768342T>G	NCI-TCGA
FOXG1	P55316	p.Phe356Ter	RCV000626877	frameshift	-	NC_000014.9:g.28768346del	ClinVar
FOXG1	P55316	p.Phe356Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768347C>A	NCI-TCGA
FOXG1	P55316	p.Ala359Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768354G>A	NCI-TCGA
FOXG1	P55316	p.Asn360Lys	COSM552819	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768359C>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Leu362Ter	RCV000624871	frameshift	Inborn genetic diseases	NC_000014.9:g.28768361dup	ClinVar
FOXG1	P55316	p.Val364Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768369G>T	NCI-TCGA
FOXG1	P55316	p.Val368Gly	rs754695105	missense variant	-	NC_000014.9:g.28768382T>G	ExAC,gnomAD
FOXG1	P55316	p.Glu371Asp	COSM955145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768392G>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Ile372Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768393A>T	NCI-TCGA
FOXG1	P55316	p.Tyr374His	COSM4050380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768399T>C	NCI-TCGA Cosmic
FOXG1	P55316	p.Ala375Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768402G>T	NCI-TCGA
FOXG1	P55316	p.Thr376Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768405A>G	NCI-TCGA
FOXG1	P55316	p.His378Pro	rs1291647299	missense variant	-	NC_000014.9:g.28768412A>C	gnomAD
FOXG1	P55316	p.Ala382Val	COSM5369518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768424C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Ala382Thr	COSM6001128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768423G>A	NCI-TCGA Cosmic
FOXG1	P55316	p.Ala383Thr	rs202157686	missense variant	-	NC_000014.9:g.28768426G>A	1000Genomes,ExAC,gnomAD
FOXG1	P55316	p.Ala383Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768427C>T	NCI-TCGA
FOXG1	P55316	p.Ser387Ter	RCV000414221	frameshift	-	NC_000014.9:g.28768439_28768440delinsGTC	ClinVar
FOXG1	P55316	p.Ser387Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.28768439C>A	NCI-TCGA
FOXG1	P55316	p.Pro389Ser	rs369673538	missense variant	-	NC_000014.9:g.28768444C>T	ESP,TOPMed
FOXG1	P55316	p.Gly391Val	rs1471936774	missense variant	-	NC_000014.9:g.28768451G>T	TOPMed
FOXG1	P55316	p.Ser393Trp	rs1085307753	missense variant	-	NC_000014.9:g.28768457C>G	-
FOXG1	P55316	p.Ser393Trp	RCV000489047	missense variant	-	NC_000014.9:g.28768457C>G	ClinVar
FOXG1	P55316	p.Ser393Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768457C>T	NCI-TCGA
FOXG1	P55316	p.Pro395Leu	rs1359529468	missense variant	-	NC_000014.9:g.28768463C>T	gnomAD
FOXG1	P55316	p.Cys396_His489del	VAR_078718	inframe_deletion	Rett syndrome congenital variant (RTTCV) [MIM:613454]	-	UniProt
FOXG1	P55316	p.Ser397Phe	rs1057521783	missense variant	-	NC_000014.9:g.28768469C>T	-
FOXG1	P55316	p.Ser397Phe	RCV000439955	missense variant	-	NC_000014.9:g.28768469C>T	ClinVar
FOXG1	P55316	p.Gly398Ala	rs1482684269	missense variant	-	NC_000014.9:g.28768472G>C	TOPMed
FOXG1	P55316	p.Thr399Ser	rs765839485	missense variant	-	NC_000014.9:g.28768474A>T	ExAC,gnomAD
FOXG1	P55316	p.Tyr400Ter	rs138747073	stop gained	-	NC_000014.9:g.28768479C>A	ESP,ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Tyr400Ter	rs138747073	stop gained	-	NC_000014.9:g.28768479C>G	ESP,ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Tyr400Ter	RCV000014886	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768479C>G	ClinVar
FOXG1	P55316	p.Tyr400Ter	RCV000170069	nonsense	-	NC_000014.9:g.28768479C>A	ClinVar
FOXG1	P55316	p.Ser401Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768480T>A	NCI-TCGA
FOXG1	P55316	p.Ser401Phe	COSM3495612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768481C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Leu402Phe	COSM416219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768483C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Asn403Ser	rs972290676	missense variant	-	NC_000014.9:g.28768487A>G	TOPMed
FOXG1	P55316	p.Val407Ile	rs1287203413	missense variant	-	NC_000014.9:g.28768498G>A	TOPMed
FOXG1	P55316	p.Leu410Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768507C>A	NCI-TCGA
FOXG1	P55316	p.Leu410Arg	COSM698031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768508T>G	NCI-TCGA Cosmic
FOXG1	P55316	p.Ala411Val	COSM1207417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768511C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Ser415Gly	rs1485738472	missense variant	-	NC_000014.9:g.28768522A>G	TOPMed,gnomAD
FOXG1	P55316	p.Ser415Asn	rs1201821930	missense variant	-	NC_000014.9:g.28768523G>A	gnomAD
FOXG1	P55316	p.Tyr416Ter	rs786204999	stop gained	-	NC_000014.9:g.28768527C>G	gnomAD
FOXG1	P55316	p.Tyr416Ter	RCV000170070	nonsense	Rett syndrome, congenital variant	NC_000014.9:g.28768527C>G	ClinVar
FOXG1	P55316	p.Phe417Leu	rs755931562	missense variant	-	NC_000014.9:g.28768528T>C	ExAC,gnomAD
FOXG1	P55316	p.Phe418SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.28768528T>-	NCI-TCGA
FOXG1	P55316	p.Pro419Leu	rs1555321437	missense variant	-	NC_000014.9:g.28768535C>T	-
FOXG1	P55316	p.Pro419Leu	RCV000623586	missense variant	Inborn genetic diseases	NC_000014.9:g.28768535C>T	ClinVar
FOXG1	P55316	p.Val421Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768540G>A	NCI-TCGA
FOXG1	P55316	p.Pro422Ser	COSM3495614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768543C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.His423Arg	rs1480907486	missense variant	-	NC_000014.9:g.28768547A>G	gnomAD
FOXG1	P55316	p.Ser425Pro	rs780242359	missense variant	-	NC_000014.9:g.28768552T>C	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Ser425Pro	RCV000711707	missense variant	-	NC_000014.9:g.28768552T>C	ClinVar
FOXG1	P55316	p.Met426Ile	RCV000187447	missense variant	-	NC_000014.9:g.28768557G>A	ClinVar
FOXG1	P55316	p.Met426Val	rs1161131663	missense variant	-	NC_000014.9:g.28768555A>G	gnomAD
FOXG1	P55316	p.Met426Ile	rs747138265	missense variant	-	NC_000014.9:g.28768557G>A	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Met426Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768556T>C	NCI-TCGA
FOXG1	P55316	p.Met426Ile	COSM6075625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768557G>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Ser428Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768562C>T	NCI-TCGA
FOXG1	P55316	p.Ser430AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.28768566G>-	NCI-TCGA
FOXG1	P55316	p.Ser430Gly	rs1337035001	missense variant	-	NC_000014.9:g.28768567A>G	gnomAD
FOXG1	P55316	p.Ser431AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.28768570A>-	NCI-TCGA
FOXG1	P55316	p.Thr432Met	rs1040115321	missense variant	-	NC_000014.9:g.28768574C>T	TOPMed
FOXG1	P55316	p.Thr432SerPheSerTerUnk	COSM955147	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.28768574C>-	NCI-TCGA Cosmic
FOXG1	P55316	p.Met434Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768579A>C	NCI-TCGA
FOXG1	P55316	p.Met434Val	rs1449961023	missense variant	-	NC_000014.9:g.28768579A>G	gnomAD
FOXG1	P55316	p.Ala436Thr	rs1301757713	missense variant	-	NC_000014.9:g.28768585G>A	gnomAD
FOXG1	P55316	p.Arg437Ser	COSM6140349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768590G>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Ala438Val	rs376242569	missense variant	-	NC_000014.9:g.28768592C>T	ESP,ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Ala438Val	RCV000602401	missense variant	-	NC_000014.9:g.28768592C>T	ClinVar
FOXG1	P55316	p.Ala439Val	rs770118439	missense variant	-	NC_000014.9:g.28768595C>T	ExAC,gnomAD
FOXG1	P55316	p.Ser444Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.28768610C>A	NCI-TCGA
FOXG1	P55316	p.Ser444Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768610C>T	NCI-TCGA
FOXG1	P55316	p.Pro445Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768612C>A	NCI-TCGA
FOXG1	P55316	p.Pro445Ser	COSM955148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768612C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Gln446Leu	rs1233541390	missense variant	-	NC_000014.9:g.28768616A>T	TOPMed,gnomAD
FOXG1	P55316	p.Gln446Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768615C>A	NCI-TCGA
FOXG1	P55316	p.Ala447Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768618G>C	NCI-TCGA
FOXG1	P55316	p.Ser449Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768625C>T	NCI-TCGA
FOXG1	P55316	p.Leu451Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768631T>A	NCI-TCGA
FOXG1	P55316	p.Pro452Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768634C>T	NCI-TCGA
FOXG1	P55316	p.Pro452Ala	rs1483410570	missense variant	-	NC_000014.9:g.28768633C>G	TOPMed
FOXG1	P55316	p.Glu454Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768639G>C	NCI-TCGA
FOXG1	P55316	p.Ser455Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768643C>T	NCI-TCGA
FOXG1	P55316	p.Arg457Ile	COSM260985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768649G>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Pro458Arg	rs767003141	missense variant	-	NC_000014.9:g.28768652C>G	ExAC,gnomAD
FOXG1	P55316	p.Ser459Ala	rs796052473	missense variant	-	NC_000014.9:g.28768654T>G	-
FOXG1	P55316	p.Ser459Ala	RCV000187472	missense variant	-	NC_000014.9:g.28768654T>G	ClinVar
FOXG1	P55316	p.Ser459Cys	RCV000702369	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768655C>G	ClinVar
FOXG1	P55316	p.Ser459Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768655C>A	NCI-TCGA
FOXG1	P55316	p.Ser462Gly	RCV000194286	missense variant	-	NC_000014.9:g.28768663A>G	ClinVar
FOXG1	P55316	p.Ser462Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768663A>C	NCI-TCGA
FOXG1	P55316	p.Ser462Gly	rs752379833	missense variant	-	NC_000014.9:g.28768663A>G	ExAC,TOPMed,gnomAD
FOXG1	P55316	p.Thr464Ala	rs1268719113	missense variant	-	NC_000014.9:g.28768669A>G	TOPMed
FOXG1	P55316	p.Thr464Met	rs1431069138	missense variant	-	NC_000014.9:g.28768670C>T	gnomAD
FOXG1	P55316	p.Thr465Met	COSM955149	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768673C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Gly466Glu	RCV000679987	missense variant	Rett syndrome, congenital variant	NC_000014.9:g.28768676G>A	ClinVar
FOXG1	P55316	p.Leu467Pro	rs779009924	missense variant	-	NC_000014.9:g.28768679T>C	ExAC,gnomAD
FOXG1	P55316	p.Ser468Ter	RCV000187489	frameshift	-	NC_000014.9:g.28768681_28768684del	ClinVar
FOXG1	P55316	p.Gly469Trp	COSM698030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768684G>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Gly470AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.28768684G>-	NCI-TCGA
FOXG1	P55316	p.Leu471ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.28768683_28768684insG	NCI-TCGA
FOXG1	P55316	p.Ser472Pro	rs781189964	missense variant	-	NC_000014.9:g.28768693T>C	ExAC,gnomAD
FOXG1	P55316	p.Asp473Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768698T>G	NCI-TCGA
FOXG1	P55316	p.Asp473Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768696G>T	NCI-TCGA
FOXG1	P55316	p.Tyr474His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768699T>C	NCI-TCGA
FOXG1	P55316	p.His477Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768708C>T	NCI-TCGA
FOXG1	P55316	p.Gln478Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768711C>G	NCI-TCGA
FOXG1	P55316	p.Gln480Arg	RCV000187473	missense variant	-	NC_000014.9:g.28768718A>G	ClinVar
FOXG1	P55316	p.Gln480Arg	rs148410675	missense variant	-	NC_000014.9:g.28768718A>G	ESP,ExAC,gnomAD
FOXG1	P55316	p.Ser483Phe	rs1273933625	missense variant	-	NC_000014.9:g.28768727C>T	gnomAD
FOXG1	P55316	p.Ser484Phe	COSM3495616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.28768730C>T	NCI-TCGA Cosmic
FOXG1	P55316	p.Asn485Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768733A>T	NCI-TCGA
FOXG1	P55316	p.Pro486Ser	rs1383814555	missense variant	-	NC_000014.9:g.28768735C>T	TOPMed
FOXG1	P55316	p.Ile488Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.28768741A>G	NCI-TCGA
PAX9	P55771	p.Ala4Asp	rs1418777481	missense variant	-	NC_000014.9:g.36662903C>A	gnomAD
PAX9	P55771	p.Phe5Leu	COSM6140619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36662907C>A	NCI-TCGA Cosmic
PAX9	P55771	p.Val8Gly	rs530304091	missense variant	-	NC_000014.9:g.36662915T>G	1000Genomes
PAX9	P55771	p.Asn9Asp	rs1468664204	missense variant	-	NC_000014.9:g.36662917A>G	gnomAD
PAX9	P55771	p.Gln10His	rs146561842	missense variant	-	NC_000014.9:g.36662922G>C	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gln10Lys	rs1373680338	missense variant	-	NC_000014.9:g.36662920C>A	TOPMed
PAX9	P55771	p.Val14Met	rs770506286	missense variant	-	NC_000014.9:g.36662932G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly18Trp	rs1247129323	missense variant	-	NC_000014.9:g.36662944G>T	TOPMed,gnomAD
PAX9	P55771	p.Pro20Leu	RCV000656432	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662951C>T	ClinVar
PAX9	P55771	p.Pro20Leu	rs1555316697	missense variant	-	NC_000014.9:g.36662951C>T	-
PAX9	P55771	p.Leu21Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36662953C>A	NCI-TCGA
PAX9	P55771	p.Leu21Pro	rs28933970	missense variant	-	NC_000014.9:g.36662954T>C	-
PAX9	P55771	p.Leu21Pro	RCV000014781	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662954T>C	ClinVar
PAX9	P55771	p.Asn23Lys	rs1302711614	missense variant	-	NC_000014.9:g.36662961C>A	TOPMed,gnomAD
PAX9	P55771	p.Asn23Ser	rs1219499046	missense variant	-	NC_000014.9:g.36662960A>G	gnomAD
PAX9	P55771	p.Ala24Gly	rs1158167937	missense variant	-	NC_000014.9:g.36662963C>G	gnomAD
PAX9	P55771	p.Ala24Ser	rs775325094	missense variant	-	NC_000014.9:g.36662962G>T	ExAC,gnomAD
PAX9	P55771	p.Ala24Thr	rs775325094	missense variant	-	NC_000014.9:g.36662962G>A	ExAC,gnomAD
PAX9	P55771	p.Arg26Trp	rs28933972	missense variant	-	NC_000014.9:g.36662968C>T	-
PAX9	P55771	p.Arg26Trp	RCV000014784	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662968C>T	ClinVar
PAX9	P55771	p.Arg28Pro	RCV000014783	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662975G>C	ClinVar
PAX9	P55771	p.Arg28Pro	rs28933971	missense variant	-	NC_000014.9:g.36662975G>C	-
PAX9	P55771	p.Gln34Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36662993A>G	NCI-TCGA
PAX9	P55771	p.Gln34Ter	COSM4050721	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.36662992C>T	NCI-TCGA Cosmic
PAX9	P55771	p.Leu35Val	rs1234482564	missense variant	-	NC_000014.9:g.36662995C>G	TOPMed
PAX9	P55771	p.Gly36Arg	rs1406085818	missense variant	-	NC_000014.9:g.36662998G>C	gnomAD
PAX9	P55771	p.Ile37Thr	rs776496826	missense variant	-	NC_000014.9:g.36663002T>C	ExAC,gnomAD
PAX9	P55771	p.Ile37Leu	rs1196510076	missense variant	-	NC_000014.9:g.36663001A>C	gnomAD
PAX9	P55771	p.Arg38Ter	rs763028737	stop gained	-	NC_000014.9:g.36663004C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro39Leu	rs1192028741	missense variant	-	NC_000014.9:g.36663008C>T	gnomAD
PAX9	P55771	p.Cys40Ter	RCV000478656	frameshift	-	NC_000014.9:g.36663006_36663009dup	ClinVar
PAX9	P55771	p.Gln45Arg	rs1424964137	missense variant	-	NC_000014.9:g.36663026A>G	gnomAD
PAX9	P55771	p.Gln45His	rs1485081477	missense variant	-	NC_000014.9:g.36663027G>T	TOPMed
PAX9	P55771	p.Arg47Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663032G>A	NCI-TCGA
PAX9	P55771	p.Arg47Trp	rs121917720	missense variant	-	NC_000014.9:g.36663031C>T	-
PAX9	P55771	p.Arg47Trp	RCV000014791	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663031C>T	ClinVar
PAX9	P55771	p.Val48Ala	COSM4050723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663035T>C	NCI-TCGA Cosmic
PAX9	P55771	p.Ser49Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663038C>T	NCI-TCGA
PAX9	P55771	p.Gly51Cys	rs104894469	missense variant	-	NC_000014.9:g.36663043G>T	gnomAD
PAX9	P55771	p.Gly51Ser	RCV000014789	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663043G>A	ClinVar
PAX9	P55771	p.Gly51Ser	rs104894469	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663043G>A	UniProt,dbSNP
PAX9	P55771	p.Gly51Ser	VAR_015698	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663043G>A	UniProt
PAX9	P55771	p.Gly51Ser	rs104894469	missense variant	-	NC_000014.9:g.36663043G>A	gnomAD
PAX9	P55771	p.Cys52Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663046T>A	NCI-TCGA
PAX9	P55771	p.Lys55GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.36663054_36663061CAAGATCC>-	NCI-TCGA
PAX9	P55771	p.Ile56Val	rs1035361992	missense variant	-	NC_000014.9:g.36663058A>G	TOPMed
PAX9	P55771	p.Ala58Thr	rs1312345937	missense variant	-	NC_000014.9:g.36663064G>A	TOPMed
PAX9	P55771	p.Ala58Val	rs1284027470	missense variant	-	NC_000014.9:g.36663065C>T	TOPMed
PAX9	P55771	p.Arg59Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.36663067C>T	NCI-TCGA
PAX9	P55771	p.Tyr60Ter	RCV000631386	nonsense	Partial congenital absence of teeth	NC_000014.9:g.36663072C>A	ClinVar
PAX9	P55771	p.Tyr60Ter	rs1555316704	stop gained	-	NC_000014.9:g.36663072C>A	-
PAX9	P55771	p.Tyr60His	COSM4050725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663070T>C	NCI-TCGA Cosmic
PAX9	P55771	p.Asn61Lys	rs1222366464	missense variant	-	NC_000014.9:g.36663075C>A	gnomAD
PAX9	P55771	p.Glu62Gln	rs778437280	missense variant	-	NC_000014.9:g.36663076G>C	ExAC,gnomAD
PAX9	P55771	p.Glu62Lys	rs778437280	missense variant	-	NC_000014.9:g.36663076G>A	ExAC,gnomAD
PAX9	P55771	p.Glu62Asp	rs1319882418	missense variant	-	NC_000014.9:g.36663078G>C	gnomAD
PAX9	P55771	p.Thr63Arg	rs749743496	missense variant	-	NC_000014.9:g.36663080C>G	ExAC,TOPMed
PAX9	P55771	p.Thr63Arg	RCV000623787	missense variant	Inborn genetic diseases	NC_000014.9:g.36663080C>G	ClinVar
PAX9	P55771	p.Gly64Ser	COSM4050726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663082G>A	NCI-TCGA Cosmic
PAX9	P55771	p.Ala70Ser	rs916637723	missense variant	-	NC_000014.9:g.36663100G>T	TOPMed,gnomAD
PAX9	P55771	p.Gly73Cys	RCV000622623	missense variant	Inborn genetic diseases	NC_000014.9:g.36663109G>T	ClinVar
PAX9	P55771	p.Gly73Val	rs1264059790	missense variant	-	NC_000014.9:g.36663110G>T	gnomAD
PAX9	P55771	p.Gly73Cys	rs1555316711	missense variant	-	NC_000014.9:g.36663109G>T	-
PAX9	P55771	p.Arg77Trp	rs1406324571	missense variant	-	NC_000014.9:g.36663121C>T	gnomAD
PAX9	P55771	p.Thr80Ile	COSM1369732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663131C>T	NCI-TCGA Cosmic
PAX9	P55771	p.Pro81Ser	rs1363313388	missense variant	-	NC_000014.9:g.36663133C>T	gnomAD
PAX9	P55771	p.Thr82Ser	COSM5504041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663136A>T	NCI-TCGA Cosmic
PAX9	P55771	p.Val83Met	rs1298237496	missense variant	-	NC_000014.9:g.36663139G>A	gnomAD
PAX9	P55771	p.His86Pro	COSM4398245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663149A>C	NCI-TCGA Cosmic
PAX9	P55771	p.Ile87Phe	RCV000704798	missense variant	Partial congenital absence of teeth	NC_000014.9:g.36663151A>T	ClinVar
PAX9	P55771	p.Arg88Gln	rs1428496379	missense variant	-	NC_000014.9:g.36663155G>A	gnomAD
PAX9	P55771	p.Tyr90Cys	rs1269537934	missense variant	-	NC_000014.9:g.36663161A>G	gnomAD
PAX9	P55771	p.Lys91Glu	RCV000530457	missense variant	Partial congenital absence of teeth	NC_000014.9:g.36663163A>G	ClinVar
PAX9	P55771	p.Lys91Glu	rs28933373	missense variant	-	NC_000014.9:g.36663163A>G	gnomAD
PAX9	P55771	p.Lys91Arg	rs979569485	missense variant	-	NC_000014.9:g.36663164A>G	TOPMed,gnomAD
PAX9	P55771	p.Gln92Lys	rs761722767	missense variant	-	NC_000014.9:g.36663166C>A	ExAC,gnomAD
PAX9	P55771	p.Asp94Glu	rs766415264	missense variant	-	NC_000014.9:g.36663174C>A	ExAC,gnomAD
PAX9	P55771	p.Ile97Leu	RCV000280795	missense variant	-	NC_000014.9:g.36663181A>C	ClinVar
PAX9	P55771	p.Ile97Leu	rs886050492	missense variant	-	NC_000014.9:g.36663181A>C	-
PAX9	P55771	p.Ala99Val	rs1441977733	missense variant	-	NC_000014.9:g.36663188C>T	gnomAD
PAX9	P55771	p.Ala99Ser	rs759490130	missense variant	-	NC_000014.9:g.36663187G>T	ExAC,gnomAD
PAX9	P55771	p.Glu101Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663193G>A	NCI-TCGA
PAX9	P55771	p.Arg105Leu	rs752908209	missense variant	-	NC_000014.9:g.36663206G>T	ExAC,gnomAD
PAX9	P55771	p.Arg105His	rs752908209	missense variant	-	NC_000014.9:g.36663206G>A	ExAC,gnomAD
PAX9	P55771	p.Ala108Val	rs748361932	missense variant	-	NC_000014.9:g.36663215C>T	gnomAD
PAX9	P55771	p.Asp109Glu	rs1383818528	missense variant	-	NC_000014.9:g.36663219C>G	gnomAD
PAX9	P55771	p.Gly110Asp	rs1051322345	missense variant	-	NC_000014.9:g.36663221G>A	TOPMed
PAX9	P55771	p.Val111Ter	RCV000413232	frameshift	-	NC_000014.9:g.36663217_36663223dup	ClinVar
PAX9	P55771	p.Cys112Trp	RCV000144943	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663228C>G	ClinVar
PAX9	P55771	p.Cys112Trp	rs587776350	missense variant	-	NC_000014.9:g.36663228C>G	-
PAX9	P55771	p.Cys112Phe	rs1277360021	missense variant	-	NC_000014.9:g.36663227G>T	gnomAD
PAX9	P55771	p.Asp113His	rs375546483	missense variant	-	NC_000014.9:g.36663229G>C	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Asp113Asn	rs375546483	missense variant	-	NC_000014.9:g.36663229G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Lys114Ter	rs104894467	stop gained	-	NC_000014.9:g.36663232A>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Lys114Ter	RCV000014778	nonsense	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663232A>T	ClinVar
PAX9	P55771	p.Lys114Gln	rs104894467	missense variant	-	NC_000014.9:g.36663232A>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Tyr115His	rs779248666	missense variant	-	NC_000014.9:g.36663235T>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Asn116His	rs1398460057	missense variant	-	NC_000014.9:g.36663238A>C	gnomAD
PAX9	P55771	p.Asn116Thr	rs915914943	missense variant	-	NC_000014.9:g.36663239A>C	TOPMed,gnomAD
PAX9	P55771	p.Asn116Ser	COSM4392360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663239A>G	NCI-TCGA Cosmic
PAX9	P55771	p.Val120Met	rs779689583	missense variant	-	NC_000014.9:g.36663250G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ile123Val	rs746663945	missense variant	-	NC_000014.9:g.36663259A>G	ExAC,gnomAD
PAX9	P55771	p.Ser124Gly	rs768500570	missense variant	-	NC_000014.9:g.36663262A>G	ExAC,gnomAD
PAX9	P55771	p.Ile126Thr	rs1353191222	missense variant	-	NC_000014.9:g.36663269T>C	gnomAD
PAX9	P55771	p.Arg128Ser	rs780940855	missense variant	-	NC_000014.9:g.36663274C>A	ExAC,gnomAD
PAX9	P55771	p.Arg128Cys	rs780940855	missense variant	-	NC_000014.9:g.36663274C>T	ExAC,gnomAD
PAX9	P55771	p.Asn129Lys	rs769798510	missense variant	-	NC_000014.9:g.36663279C>A	ExAC,gnomAD
PAX9	P55771	p.Lys130Arg	rs1396627161	missense variant	-	NC_000014.9:g.36663281A>G	TOPMed
PAX9	P55771	p.Ile131Met	rs772970706	missense variant	-	NC_000014.9:g.36663285C>G	ExAC,gnomAD
PAX9	P55771	p.Gly132Cys	rs1241635384	missense variant	-	NC_000014.9:g.36663286G>T	gnomAD
PAX9	P55771	p.Asn133Ser	rs771977086	missense variant	-	NC_000014.9:g.36663290A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Leu134Phe	rs775918897	missense variant	-	NC_000014.9:g.36663294G>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala135Thr	rs760959243	missense variant	-	NC_000014.9:g.36663295G>A	ExAC,gnomAD
PAX9	P55771	p.Ala135Gly	rs1433127643	missense variant	-	NC_000014.9:g.36663296C>G	TOPMed
PAX9	P55771	p.Gln137Ter	rs764595344	stop gained	-	NC_000014.9:g.36663301C>T	ExAC,gnomAD
PAX9	P55771	p.Gln137Pro	rs1390634538	missense variant	-	NC_000014.9:g.36663302A>C	TOPMed
PAX9	P55771	p.His139Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663307C>A	NCI-TCGA
PAX9	P55771	p.His139Arg	rs754287422	missense variant	-	NC_000014.9:g.36663308A>G	ExAC,gnomAD
PAX9	P55771	p.Ser142Thr	rs1320971893	missense variant	-	NC_000014.9:g.36663316T>A	TOPMed
PAX9	P55771	p.Tyr143Cys	rs139008563	missense variant	-	NC_000014.9:g.36663320A>G	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Tyr143His	rs1402348460	missense variant	-	NC_000014.9:g.36663319T>C	gnomAD
PAX9	P55771	p.His146Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663330C>A	NCI-TCGA
PAX9	P55771	p.His146Asp	rs765791266	missense variant	-	NC_000014.9:g.36663328C>G	ExAC,gnomAD
PAX9	P55771	p.His146Gln	rs757996388	missense variant	-	NC_000014.9:g.36663330C>G	ExAC,gnomAD
PAX9	P55771	p.His146Pro	rs750832505	missense variant	-	NC_000014.9:g.36663329A>C	ExAC,gnomAD
PAX9	P55771	p.Gln147Arg	rs369478673	missense variant	-	NC_000014.9:g.36663332A>G	ESP,TOPMed
PAX9	P55771	p.Gln147Lys	rs1337728121	missense variant	-	NC_000014.9:g.36663331C>A	TOPMed,gnomAD
PAX9	P55771	p.Pro148Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663334C>T	NCI-TCGA
PAX9	P55771	p.Pro148Gln	rs974072582	missense variant	-	NC_000014.9:g.36663335C>A	TOPMed,gnomAD
PAX9	P55771	p.Pro148Leu	rs974072582	missense variant	-	NC_000014.9:g.36663335C>T	TOPMed,gnomAD
PAX9	P55771	p.Thr149Met	rs1215426320	missense variant	-	NC_000014.9:g.36663338C>T	gnomAD
PAX9	P55771	p.Pro150Arg	rs1436963184	missense variant	-	NC_000014.9:g.36663341C>G	TOPMed,gnomAD
PAX9	P55771	p.Pro150Leu	COSM4711371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663341C>T	NCI-TCGA Cosmic
PAX9	P55771	p.Gln151Lys	rs1261824175	missense variant	-	NC_000014.9:g.36663343C>A	gnomAD
PAX9	P55771	p.Pro152Ser	rs779529500	missense variant	-	NC_000014.9:g.36663346C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala153Val	rs773508045	missense variant	-	NC_000014.9:g.36663350C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala153Glu	rs773508045	missense variant	-	NC_000014.9:g.36663350C>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro155Ala	rs747994128	missense variant	-	NC_000014.9:g.36663355C>G	ExAC,gnomAD
PAX9	P55771	p.Tyr156Ter	RCV000623432	frameshift	Inborn genetic diseases	NC_000014.9:g.36663356_36663357dup	ClinVar
PAX9	P55771	p.His158Arg	rs769417655	missense variant	-	NC_000014.9:g.36663365A>G	ExAC,gnomAD
PAX9	P55771	p.Ile159Val	rs1275548945	missense variant	-	NC_000014.9:g.36663367A>G	TOPMed
PAX9	P55771	p.Ile159Asn	rs1428500752	missense variant	-	NC_000014.9:g.36663368T>A	gnomAD
PAX9	P55771	p.Tyr160Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.36663372C>A	NCI-TCGA
PAX9	P55771	p.Tyr160His	rs1246127494	missense variant	-	NC_000014.9:g.36663370T>C	TOPMed
PAX9	P55771	p.Pro165Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663386C>T	NCI-TCGA
PAX9	P55771	p.Pro165Arg	rs1417181500	missense variant	-	NC_000014.9:g.36663386C>G	gnomAD
PAX9	P55771	p.Ile166Val	COSM697886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663388A>G	NCI-TCGA Cosmic
PAX9	P55771	p.Thr167Lys	rs769021972	missense variant	-	NC_000014.9:g.36663392C>A	ExAC,gnomAD
PAX9	P55771	p.Ala169Ser	rs1459944015	missense variant	-	NC_000014.9:g.36663397G>T	gnomAD
PAX9	P55771	p.Ala169Gly	rs1323425581	missense variant	-	NC_000014.9:g.36663398C>G	TOPMed,gnomAD
PAX9	P55771	p.Ala169Val	rs1323425581	missense variant	-	NC_000014.9:g.36663398C>T	TOPMed,gnomAD
PAX9	P55771	p.Ala170Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663401C>T	NCI-TCGA
PAX9	P55771	p.Ala171Thr	RCV000317164	missense variant	-	NC_000014.9:g.36663403G>A	ClinVar
PAX9	P55771	p.Ala171Thr	rs143020311	missense variant	-	NC_000014.9:g.36663403G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala171Val	COSM469946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663404C>T	NCI-TCGA Cosmic
PAX9	P55771	p.Lys172Gln	rs763349761	missense variant	-	NC_000014.9:g.36663406A>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr175Met	RCV000286437	missense variant	-	NC_000014.9:g.36663416C>T	ClinVar
PAX9	P55771	p.Thr175Met	rs370909756	missense variant	-	NC_000014.9:g.36663416C>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro176Thr	rs767167192	missense variant	-	NC_000014.9:g.36663418C>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro176Ser	rs767167192	missense variant	-	NC_000014.9:g.36663418C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro177Leu	rs752223751	missense variant	-	NC_000014.9:g.36663422C>T	ExAC,gnomAD
PAX9	P55771	p.Gly178Arg	rs1327319164	missense variant	-	NC_000014.9:g.36663424G>A	gnomAD
PAX9	P55771	p.Gly178Ala	rs1355919130	missense variant	-	NC_000014.9:g.36663425G>C	TOPMed,gnomAD
PAX9	P55771	p.Val179Met	rs376393242	missense variant	-	NC_000014.9:g.36663427G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Val179Leu	rs376393242	missense variant	-	NC_000014.9:g.36663427G>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro180Ser	rs757294221	missense variant	-	NC_000014.9:g.36663430C>T	ExAC,gnomAD
PAX9	P55771	p.Gly184Ser	rs778946289	missense variant	-	NC_000014.9:g.36663442G>A	ExAC,gnomAD
PAX9	P55771	p.Ser185Trp	rs370477014	missense variant	-	NC_000014.9:g.36663446C>G	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala187Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663452C>T	NCI-TCGA
PAX9	P55771	p.Ala187Thr	rs554969436	missense variant	-	NC_000014.9:g.36663451G>A	1000Genomes,TOPMed,gnomAD
PAX9	P55771	p.Met188Val	rs776983499	missense variant	-	NC_000014.9:g.36663454A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro189Ser	rs1298394734	missense variant	-	NC_000014.9:g.36663457C>T	gnomAD
PAX9	P55771	p.Arg190Leu	rs368669343	missense variant	-	NC_000014.9:g.36663461G>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg190His	rs368669343	missense variant	-	NC_000014.9:g.36663461G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr191Ala	rs763261408	missense variant	-	NC_000014.9:g.36663463A>G	ExAC,gnomAD
PAX9	P55771	p.Trp192Arg	rs766889588	missense variant	-	NC_000014.9:g.36663466T>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Trp192Ser	rs956843855	missense variant	-	NC_000014.9:g.36663467G>C	TOPMed,gnomAD
PAX9	P55771	p.Pro193Ala	rs774778386	missense variant	-	NC_000014.9:g.36663469C>G	ExAC,gnomAD
PAX9	P55771	p.Ser195Leu	rs371143144	missense variant	-	NC_000014.9:g.36663476C>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.His196Tyr	rs767010050	missense variant	-	NC_000014.9:g.36663478C>T	ExAC,gnomAD
PAX9	P55771	p.Ser197Pro	rs987375990	missense variant	-	NC_000014.9:g.36663481T>C	TOPMed
PAX9	P55771	p.Val198Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663484G>A	NCI-TCGA
PAX9	P55771	p.Asp200Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36663491A>G	NCI-TCGA
PAX9	P55771	p.Asp200His	rs1161932041	missense variant	-	NC_000014.9:g.36663490G>C	TOPMed,gnomAD
PAX9	P55771	p.Asp200Asn	rs1161932041	missense variant	-	NC_000014.9:g.36663490G>A	TOPMed,gnomAD
PAX9	P55771	p.Asp200Tyr	rs1161932041	missense variant	-	NC_000014.9:g.36663490G>T	TOPMed,gnomAD
PAX9	P55771	p.Ile201Leu	rs1370600054	missense variant	-	NC_000014.9:g.36663493A>C	TOPMed
PAX9	P55771	p.Leu202Met	COSM1369736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36663496C>A	NCI-TCGA Cosmic
PAX9	P55771	p.Gly203Cys	rs757061208	missense variant	-	NC_000014.9:g.36663499G>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly203Ser	rs757061208	missense variant	-	NC_000014.9:g.36663499G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly203Val	rs1382192095	missense variant	-	NC_000014.9:g.36663500G>T	gnomAD
PAX9	P55771	p.Arg205Pro	rs374534090	missense variant	-	NC_000014.9:g.36663506G>C	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg205Leu	rs374534090	missense variant	-	NC_000014.9:g.36663506G>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg205His	rs374534090	missense variant	-	NC_000014.9:g.36663506G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg205Cys	rs755171552	missense variant	-	NC_000014.9:g.36663505C>T	ExAC,gnomAD
PAX9	P55771	p.Ile207Val	rs748445890	missense variant	-	NC_000014.9:g.36663511A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ile207Asn	rs1354058584	missense variant	-	NC_000014.9:g.36663512T>A	gnomAD
PAX9	P55771	p.Thr208Ser	RCV000533935	missense variant	Partial congenital absence of teeth	NC_000014.9:g.36663515C>G	ClinVar
PAX9	P55771	p.Thr208Asn	rs116676854	missense variant	-	NC_000014.9:g.36663515C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr208Ser	rs116676854	missense variant	-	NC_000014.9:g.36663515C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Asp209Glu	rs1257119692	missense variant	-	NC_000014.9:g.36663519C>A	gnomAD
PAX9	P55771	p.Asp209His	rs749662886	missense variant	-	NC_000014.9:g.36663517G>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser212Arg	rs910966729	missense variant	-	NC_000014.9:g.36666466C>A	TOPMed,gnomAD
PAX9	P55771	p.Ser212Asn	COSM4050730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36666465G>A	NCI-TCGA Cosmic
PAX9	P55771	p.Ser214Gly	rs375436662	missense variant	-	NC_000014.9:g.36666470A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser214Ile	rs1258408690	missense variant	-	NC_000014.9:g.36666471G>T	TOPMed,gnomAD
PAX9	P55771	p.Ser215Phe	rs1206808645	missense variant	-	NC_000014.9:g.36666474C>T	TOPMed,gnomAD
PAX9	P55771	p.Pro216Leu	rs751443373	missense variant	-	NC_000014.9:g.36666477C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.His218Tyr	rs1271193210	missense variant	-	NC_000014.9:g.36666482C>T	gnomAD
PAX9	P55771	p.His218Arg	rs756212377	missense variant	-	NC_000014.9:g.36666483A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser219Asn	rs777895216	missense variant	-	NC_000014.9:g.36666486G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro220Ser	rs757438363	missense variant	-	NC_000014.9:g.36666488C>T	ExAC,gnomAD
PAX9	P55771	p.Lys221Arg	rs779059411	missense variant	-	NC_000014.9:g.36666492A>G	ExAC,gnomAD
PAX9	P55771	p.Lys221Thr	rs779059411	missense variant	-	NC_000014.9:g.36666492A>C	ExAC,gnomAD
PAX9	P55771	p.Glu223Asp	rs746246932	missense variant	-	NC_000014.9:g.36666499G>C	ExAC,gnomAD
PAX9	P55771	p.Ser227Arg	rs199777734	missense variant	-	NC_000014.9:g.36666509A>C	1000Genomes,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser227Arg	rs1343116306	missense variant	-	NC_000014.9:g.36666511C>G	gnomAD
PAX9	P55771	p.Ser227Thr	rs1441276453	missense variant	-	NC_000014.9:g.36666510G>C	TOPMed
PAX9	P55771	p.Leu228Pro	rs780494094	missense variant	-	NC_000014.9:g.36666513T>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly229Asp	rs896951220	missense variant	-	NC_000014.9:g.36666516G>A	TOPMed,gnomAD
PAX9	P55771	p.Gly229Arg	rs768103405	missense variant	-	NC_000014.9:g.36666515G>C	ExAC,gnomAD
PAX9	P55771	p.Arg230Gly	rs776254475	missense variant	-	NC_000014.9:g.36666518C>G	ExAC,gnomAD
PAX9	P55771	p.Arg230Ser	rs776254475	missense variant	-	NC_000014.9:g.36666518C>A	ExAC,gnomAD
PAX9	P55771	p.Arg230Cys	rs776254475	missense variant	-	NC_000014.9:g.36666518C>T	ExAC,gnomAD
PAX9	P55771	p.Arg230Leu	rs368787836	missense variant	-	NC_000014.9:g.36666519G>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg230His	rs368787836	missense variant	-	NC_000014.9:g.36666519G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Phe233Leu	rs200733091	missense variant	-	NC_000014.9:g.36666527T>C	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro234Leu	rs1199249859	missense variant	-	NC_000014.9:g.36666531C>T	gnomAD
PAX9	P55771	p.Ala235Thr	rs1425488171	missense variant	-	NC_000014.9:g.36666533G>A	TOPMed
PAX9	P55771	p.Pro238Gln	rs759493655	missense variant	-	NC_000014.9:g.36666543C>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro238Thr	rs774212071	missense variant	-	NC_000014.9:g.36666542C>A	ExAC
PAX9	P55771	p.Pro238Arg	rs759493655	missense variant	-	NC_000014.9:g.36666543C>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.His239Asn	rs1165096156	missense variant	-	NC_000014.9:g.36666545C>A	TOPMed,gnomAD
PAX9	P55771	p.His239Gln	rs12881240	missense variant	-	NC_000014.9:g.36666547C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.His239Tyr	rs1165096156	missense variant	-	NC_000014.9:g.36666545C>T	TOPMed,gnomAD
PAX9	P55771	p.Ala240Pro	RCV000600885	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36666548G>C	ClinVar
PAX9	P55771	p.Ala240Pro	RCV000247763	missense variant	-	NC_000014.9:g.36666548G>C	ClinVar
PAX9	P55771	p.Ala240Val	rs529235901	missense variant	-	NC_000014.9:g.36666549C>T	1000Genomes,ExAC,gnomAD
PAX9	P55771	p.Ala240Pro	rs4904210	missense variant	-	NC_000014.9:g.36666548G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Val241Met	rs750655844	missense variant	-	NC_000014.9:g.36666551G>A	ExAC
PAX9	P55771	p.Asn242Lys	rs1055255967	missense variant	-	NC_000014.9:g.36666556C>G	TOPMed
PAX9	P55771	p.Gly243Trp	rs1428602414	missense variant	-	NC_000014.9:g.36666557G>T	gnomAD
PAX9	P55771	p.Glu245Gln	rs1269338640	missense variant	-	NC_000014.9:g.36666563G>C	gnomAD
PAX9	P55771	p.Gly247Arg	rs1246917136	missense variant	-	NC_000014.9:g.36666569G>A	gnomAD
PAX9	P55771	p.Ala248Pro	rs1357648227	missense variant	-	NC_000014.9:g.36666572G>C	gnomAD
PAX9	P55771	p.Ala248Val	rs1311113788	missense variant	-	NC_000014.9:g.36666573C>T	TOPMed
PAX9	P55771	p.Glu250Asp	rs200344655	missense variant	-	NC_000014.9:g.36666580G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala253Ser	rs1449195856	missense variant	-	NC_000014.9:g.36666587G>T	gnomAD
PAX9	P55771	p.Lys254Thr	rs1381996308	missense variant	-	NC_000014.9:g.36666591A>C	TOPMed
PAX9	P55771	p.Lys254Arg	COSM4391299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36666591A>G	NCI-TCGA Cosmic
PAX9	P55771	p.Tyr255Phe	rs1214299184	missense variant	-	NC_000014.9:g.36666594A>T	gnomAD
PAX9	P55771	p.Pro259Ser	rs145974094	missense variant	-	NC_000014.9:g.36676201C>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly261Ser	rs766474912	missense variant	-	NC_000014.9:g.36676207G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly261Ala	rs751979591	missense variant	-	NC_000014.9:g.36676208G>C	ExAC,gnomAD
PAX9	P55771	p.Gly261Cys	rs766474912	missense variant	-	NC_000014.9:g.36676207G>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Phe268Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36676230T>A	NCI-TCGA
PAX9	P55771	p.Val269Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36676231G>A	NCI-TCGA
PAX9	P55771	p.Val269Leu	rs1398880348	missense variant	-	NC_000014.9:g.36676231G>C	gnomAD
PAX9	P55771	p.Ser272Cys	rs1307454237	missense variant	-	NC_000014.9:g.36676241C>G	gnomAD
PAX9	P55771	p.Ser272Pro	rs1408470378	missense variant	-	NC_000014.9:g.36676240T>C	gnomAD
PAX9	P55771	p.Met274Thr	rs1457710579	missense variant	-	NC_000014.9:g.36676247T>C	TOPMed
PAX9	P55771	p.Met274Val	rs1346257646	missense variant	-	NC_000014.9:g.36676246A>G	gnomAD
PAX9	P55771	p.Pro276Ser	rs866470249	missense variant	-	NC_000014.9:g.36676252C>T	-
PAX9	P55771	p.Tyr277His	rs755333152	missense variant	-	NC_000014.9:g.36676255T>C	ExAC,gnomAD
PAX9	P55771	p.Pro278Ala	rs1331104175	missense variant	-	NC_000014.9:g.36676258C>G	gnomAD
PAX9	P55771	p.Ala281Asp	rs1256308432	missense variant	-	NC_000014.9:g.36676268C>A	TOPMed
PAX9	P55771	p.Gln282Ter	COSM3793683	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.36676270C>T	NCI-TCGA Cosmic
PAX9	P55771	p.Ser284Thr	rs748658101	missense variant	-	NC_000014.9:g.36676276T>A	ExAC,gnomAD
PAX9	P55771	p.Ser284Leu	rs1435281638	missense variant	-	NC_000014.9:g.36676277C>T	gnomAD
PAX9	P55771	p.Pro285Leu	rs777314709	missense variant	-	NC_000014.9:g.36676280C>T	ExAC,gnomAD
PAX9	P55771	p.Tyr286Ser	rs1291792613	missense variant	-	NC_000014.9:g.36676283A>C	gnomAD
PAX9	P55771	p.Met287Arg	rs770648636	missense variant	-	NC_000014.9:g.36676286T>G	ExAC,gnomAD
PAX9	P55771	p.Met287Val	rs201709294	missense variant	-	NC_000014.9:g.36676285A>G	1000Genomes,ExAC,gnomAD
PAX9	P55771	p.Met287Lys	rs770648636	missense variant	-	NC_000014.9:g.36676286T>A	ExAC,gnomAD
PAX9	P55771	p.Met287Ile	COSM697885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36676287G>C	NCI-TCGA Cosmic
PAX9	P55771	p.Thr288Asn	rs1220508893	missense variant	-	NC_000014.9:g.36676289C>A	TOPMed
PAX9	P55771	p.Ser290Cys	rs1266569973	missense variant	-	NC_000014.9:g.36676294A>T	gnomAD
PAX9	P55771	p.Ala292Thr	rs773825763	missense variant	-	NC_000014.9:g.36676300G>A	ExAC,gnomAD
PAX9	P55771	p.Ala292Gly	rs745682184	missense variant	-	NC_000014.9:g.36676301C>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro293Ser	rs771849784	missense variant	-	NC_000014.9:g.36676303C>T	ExAC,gnomAD
PAX9	P55771	p.Ser294Ala	rs760586017	missense variant	-	NC_000014.9:g.36676306T>G	ExAC,gnomAD
PAX9	P55771	p.His300Leu	rs773374693	missense variant	-	NC_000014.9:g.36676325A>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.His300Arg	rs773374693	missense variant	-	NC_000014.9:g.36676325A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly301Arg	rs1301440769	missense variant	-	NC_000014.9:g.36676327G>A	TOPMed,gnomAD
PAX9	P55771	p.Trp302Arg	rs762897043	missense variant	-	NC_000014.9:g.36676330T>C	ExAC,gnomAD
PAX9	P55771	p.Gln303Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.36676333C>T	NCI-TCGA
PAX9	P55771	p.Gly307AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.36676342G>-	NCI-TCGA
PAX9	P55771	p.Thr308Asn	rs1383311522	missense variant	-	NC_000014.9:g.36676349C>A	TOPMed,gnomAD
PAX9	P55771	p.Thr308Ile	rs1383311522	missense variant	-	NC_000014.9:g.36676349C>T	TOPMed,gnomAD
PAX9	P55771	p.Ser309Leu	rs766641150	missense variant	-	NC_000014.9:g.36676352C>T	ExAC,gnomAD
PAX9	P55771	p.Leu310Phe	rs116602527	missense variant	-	NC_000014.9:g.36676356G>T	1000Genomes,TOPMed,gnomAD
PAX9	P55771	p.Leu310Phe	rs116602527	missense variant	-	NC_000014.9:g.36676356G>C	1000Genomes,TOPMed,gnomAD
PAX9	P55771	p.Leu310Trp	rs543851630	missense variant	-	NC_000014.9:g.36676355T>G	gnomAD
PAX9	P55771	p.Ser311Phe	rs760041338	missense variant	-	NC_000014.9:g.36676358C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser311Ala	rs751662995	missense variant	-	NC_000014.9:g.36676357T>G	ExAC,gnomAD
PAX9	P55771	p.Ser311Cys	rs760041338	missense variant	-	NC_000014.9:g.36676358C>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro312Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36676360C>T	NCI-TCGA
PAX9	P55771	p.Pro312Arg	rs1174935100	missense variant	-	NC_000014.9:g.36676361C>G	TOPMed
PAX9	P55771	p.His313Tyr	rs1243108043	missense variant	-	NC_000014.9:g.36676363C>T	gnomAD
PAX9	P55771	p.Ile317Phe	rs139883801	missense variant	-	NC_000014.9:g.36676375A>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ile317Asn	rs1160799367	missense variant	-	NC_000014.9:g.36676376T>A	TOPMed,gnomAD
PAX9	P55771	p.Ile317Val	rs139883801	missense variant	-	NC_000014.9:g.36676375A>G	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro318Ser	rs756657081	missense variant	-	NC_000014.9:g.36676378C>T	ExAC,gnomAD
PAX9	P55771	p.Pro318Leu	rs372101496	missense variant	-	NC_000014.9:g.36676379C>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala319Val	rs1460911849	missense variant	-	NC_000014.9:g.36676382C>T	gnomAD
PAX9	P55771	p.Ser320Trp	rs771366081	missense variant	-	NC_000014.9:g.36676385C>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser320Leu	rs771366081	missense variant	-	NC_000014.9:g.36676385C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala322Val	rs1446726204	missense variant	-	NC_000014.9:g.36676391C>T	gnomAD
PAX9	P55771	p.Lys324Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36676398G>T	NCI-TCGA
PAX9	P55771	p.Met326Leu	rs1041320826	missense variant	-	NC_000014.9:g.36676402A>C	TOPMed,gnomAD
PAX9	P55771	p.Met326Leu	rs1041320826	missense variant	-	NC_000014.9:g.36676402A>T	TOPMed,gnomAD
PAX9	P55771	p.Gln327Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36676406A>G	NCI-TCGA
PAX9	P55771	p.Gln327Ter	rs745507886	stop gained	-	NC_000014.9:g.36676405C>T	ExAC,gnomAD
PAX9	P55771	p.Ala328Val	rs1383515076	missense variant	-	NC_000014.9:g.36676409C>T	gnomAD
PAX9	P55771	p.Ala328Thr	rs1291143513	missense variant	-	NC_000014.9:g.36676408G>A	gnomAD
PAX9	P55771	p.Ala329Thr	rs771904928	missense variant	-	NC_000014.9:g.36676411G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly332Cys	rs779795962	missense variant	-	NC_000014.9:g.36676420G>T	ExAC,gnomAD
PAX9	P55771	p.Gly332Ser	rs779795962	missense variant	-	NC_000014.9:g.36676420G>A	ExAC,gnomAD
PAX9	P55771	p.His334Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36676426C>T	NCI-TCGA
PAX9	P55771	p.His334Arg	rs1314150744	missense variant	-	NC_000014.9:g.36676427A>G	TOPMed
PAX9	P55771	p.Val336Ala	rs768607356	missense variant	-	NC_000014.9:g.36676433T>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Val336Leu	rs746768464	missense variant	-	NC_000014.9:g.36676432G>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr337Lys	rs776377834	missense variant	-	NC_000014.9:g.36676436C>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr337Met	rs776377834	missense variant	-	NC_000014.9:g.36676436C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr337Ala	rs1317002348	missense variant	-	NC_000014.9:g.36676435A>G	gnomAD
PAX9	P55771	p.Ala338Val	rs763088741	missense variant	-	NC_000014.9:g.36676439C>T	ExAC,gnomAD
PAX9	P55771	p.Ser339Ala	rs1307023672	missense variant	-	NC_000014.9:g.36676441T>G	TOPMed
PAX9	P55771	p.Ser339Phe	COSM6015499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36676442C>T	NCI-TCGA Cosmic
PAX9	P55771	p.Ala340Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.36676444G>A	NCI-TCGA
PAX9	P55771	p.Leu341Val	COSM3814768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.36676447C>G	NCI-TCGA Cosmic
PAX9	P55771	p.Ala4Asp	rs1418777481	missense variant	-	NC_000014.9:g.36662903C>A	gnomAD
PAX9	P55771	p.Val8Gly	rs530304091	missense variant	-	NC_000014.9:g.36662915T>G	1000Genomes
PAX9	P55771	p.Asn9Asp	rs1468664204	missense variant	-	NC_000014.9:g.36662917A>G	gnomAD
PAX9	P55771	p.Gln10His	rs146561842	missense variant	-	NC_000014.9:g.36662922G>C	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gln10Lys	rs1373680338	missense variant	-	NC_000014.9:g.36662920C>A	TOPMed
PAX9	P55771	p.Val14Met	rs770506286	missense variant	-	NC_000014.9:g.36662932G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly18Trp	rs1247129323	missense variant	-	NC_000014.9:g.36662944G>T	TOPMed,gnomAD
PAX9	P55771	p.Pro20Leu	RCV000656432	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662951C>T	ClinVar
PAX9	P55771	p.Pro20Leu	rs1555316697	missense variant	-	NC_000014.9:g.36662951C>T	-
PAX9	P55771	p.Leu21Pro	rs28933970	missense variant	-	NC_000014.9:g.36662954T>C	-
PAX9	P55771	p.Leu21Pro	RCV000014781	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662954T>C	ClinVar
PAX9	P55771	p.Asn23Lys	rs1302711614	missense variant	-	NC_000014.9:g.36662961C>A	TOPMed,gnomAD
PAX9	P55771	p.Asn23Ser	rs1219499046	missense variant	-	NC_000014.9:g.36662960A>G	gnomAD
PAX9	P55771	p.Ala24Gly	rs1158167937	missense variant	-	NC_000014.9:g.36662963C>G	gnomAD
PAX9	P55771	p.Ala24Ser	rs775325094	missense variant	-	NC_000014.9:g.36662962G>T	ExAC,gnomAD
PAX9	P55771	p.Ala24Thr	rs775325094	missense variant	-	NC_000014.9:g.36662962G>A	ExAC,gnomAD
PAX9	P55771	p.Arg26Trp	rs28933972	missense variant	-	NC_000014.9:g.36662968C>T	-
PAX9	P55771	p.Arg26Trp	RCV000014784	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662968C>T	ClinVar
PAX9	P55771	p.Arg28Pro	RCV000014783	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36662975G>C	ClinVar
PAX9	P55771	p.Arg28Pro	rs28933971	missense variant	-	NC_000014.9:g.36662975G>C	-
PAX9	P55771	p.Leu35Val	rs1234482564	missense variant	-	NC_000014.9:g.36662995C>G	TOPMed
PAX9	P55771	p.Gly36Arg	rs1406085818	missense variant	-	NC_000014.9:g.36662998G>C	gnomAD
PAX9	P55771	p.Ile37Thr	rs776496826	missense variant	-	NC_000014.9:g.36663002T>C	ExAC,gnomAD
PAX9	P55771	p.Ile37Leu	rs1196510076	missense variant	-	NC_000014.9:g.36663001A>C	gnomAD
PAX9	P55771	p.Arg38Ter	rs763028737	stop gained	-	NC_000014.9:g.36663004C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro39Leu	rs1192028741	missense variant	-	NC_000014.9:g.36663008C>T	gnomAD
PAX9	P55771	p.Cys40Ter	RCV000478656	frameshift	-	NC_000014.9:g.36663006_36663009dup	ClinVar
PAX9	P55771	p.Gln45Arg	rs1424964137	missense variant	-	NC_000014.9:g.36663026A>G	gnomAD
PAX9	P55771	p.Gln45His	rs1485081477	missense variant	-	NC_000014.9:g.36663027G>T	TOPMed
PAX9	P55771	p.Arg47Trp	rs121917720	missense variant	-	NC_000014.9:g.36663031C>T	-
PAX9	P55771	p.Arg47Trp	RCV000014791	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663031C>T	ClinVar
PAX9	P55771	p.Gly51Ser	RCV000014789	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663043G>A	ClinVar
PAX9	P55771	p.Gly51Cys	rs104894469	missense variant	-	NC_000014.9:g.36663043G>T	gnomAD
PAX9	P55771	p.Gly51Ser	rs104894469	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663043G>A	UniProt,dbSNP
PAX9	P55771	p.Gly51Ser	VAR_015698	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663043G>A	UniProt
PAX9	P55771	p.Gly51Ser	rs104894469	missense variant	-	NC_000014.9:g.36663043G>A	gnomAD
PAX9	P55771	p.Ile56Val	rs1035361992	missense variant	-	NC_000014.9:g.36663058A>G	TOPMed
PAX9	P55771	p.Ala58Thr	rs1312345937	missense variant	-	NC_000014.9:g.36663064G>A	TOPMed
PAX9	P55771	p.Ala58Val	rs1284027470	missense variant	-	NC_000014.9:g.36663065C>T	TOPMed
PAX9	P55771	p.Tyr60Ter	RCV000631386	nonsense	Partial congenital absence of teeth	NC_000014.9:g.36663072C>A	ClinVar
PAX9	P55771	p.Tyr60Ter	rs1555316704	stop gained	-	NC_000014.9:g.36663072C>A	-
PAX9	P55771	p.Asn61Lys	rs1222366464	missense variant	-	NC_000014.9:g.36663075C>A	gnomAD
PAX9	P55771	p.Glu62Gln	rs778437280	missense variant	-	NC_000014.9:g.36663076G>C	ExAC,gnomAD
PAX9	P55771	p.Glu62Lys	rs778437280	missense variant	-	NC_000014.9:g.36663076G>A	ExAC,gnomAD
PAX9	P55771	p.Glu62Asp	rs1319882418	missense variant	-	NC_000014.9:g.36663078G>C	gnomAD
PAX9	P55771	p.Thr63Arg	rs749743496	missense variant	-	NC_000014.9:g.36663080C>G	ExAC,TOPMed
PAX9	P55771	p.Thr63Arg	RCV000623787	missense variant	Inborn genetic diseases	NC_000014.9:g.36663080C>G	ClinVar
PAX9	P55771	p.Ala70Ser	rs916637723	missense variant	-	NC_000014.9:g.36663100G>T	TOPMed,gnomAD
PAX9	P55771	p.Gly73Cys	RCV000622623	missense variant	Inborn genetic diseases	NC_000014.9:g.36663109G>T	ClinVar
PAX9	P55771	p.Gly73Cys	rs1555316711	missense variant	-	NC_000014.9:g.36663109G>T	-
PAX9	P55771	p.Gly73Val	rs1264059790	missense variant	-	NC_000014.9:g.36663110G>T	gnomAD
PAX9	P55771	p.Arg77Trp	rs1406324571	missense variant	-	NC_000014.9:g.36663121C>T	gnomAD
PAX9	P55771	p.Pro81Ser	rs1363313388	missense variant	-	NC_000014.9:g.36663133C>T	gnomAD
PAX9	P55771	p.Val83Met	rs1298237496	missense variant	-	NC_000014.9:g.36663139G>A	gnomAD
PAX9	P55771	p.Ile87Phe	RCV000704798	missense variant	Partial congenital absence of teeth	NC_000014.9:g.36663151A>T	ClinVar
PAX9	P55771	p.Ile87Phe	rs104894468	missense variant	-	NC_000014.9:g.36663151A>T	-
PAX9	P55771	p.Arg88Gln	rs1428496379	missense variant	-	NC_000014.9:g.36663155G>A	gnomAD
PAX9	P55771	p.Tyr90Cys	rs1269537934	missense variant	-	NC_000014.9:g.36663161A>G	gnomAD
PAX9	P55771	p.Lys91Glu	RCV000530457	missense variant	Partial congenital absence of teeth	NC_000014.9:g.36663163A>G	ClinVar
PAX9	P55771	p.Lys91Arg	rs979569485	missense variant	-	NC_000014.9:g.36663164A>G	TOPMed,gnomAD
PAX9	P55771	p.Lys91Glu	rs28933373	missense variant	-	NC_000014.9:g.36663163A>G	gnomAD
PAX9	P55771	p.Gln92Lys	rs761722767	missense variant	-	NC_000014.9:g.36663166C>A	ExAC,gnomAD
PAX9	P55771	p.Asp94Glu	rs766415264	missense variant	-	NC_000014.9:g.36663174C>A	ExAC,gnomAD
PAX9	P55771	p.Ile97Leu	RCV000280795	missense variant	-	NC_000014.9:g.36663181A>C	ClinVar
PAX9	P55771	p.Ile97Leu	rs886050492	missense variant	-	NC_000014.9:g.36663181A>C	-
PAX9	P55771	p.Ala99Ser	rs759490130	missense variant	-	NC_000014.9:g.36663187G>T	ExAC,gnomAD
PAX9	P55771	p.Ala99Val	rs1441977733	missense variant	-	NC_000014.9:g.36663188C>T	gnomAD
PAX9	P55771	p.Arg105His	rs752908209	missense variant	-	NC_000014.9:g.36663206G>A	ExAC,gnomAD
PAX9	P55771	p.Arg105Leu	rs752908209	missense variant	-	NC_000014.9:g.36663206G>T	ExAC,gnomAD
PAX9	P55771	p.Ala108Val	rs748361932	missense variant	-	NC_000014.9:g.36663215C>T	gnomAD
PAX9	P55771	p.Asp109Glu	rs1383818528	missense variant	-	NC_000014.9:g.36663219C>G	gnomAD
PAX9	P55771	p.Gly110Asp	rs1051322345	missense variant	-	NC_000014.9:g.36663221G>A	TOPMed
PAX9	P55771	p.Val111Ter	RCV000413232	frameshift	-	NC_000014.9:g.36663217_36663223dup	ClinVar
PAX9	P55771	p.Cys112Trp	RCV000144943	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663228C>G	ClinVar
PAX9	P55771	p.Cys112Trp	rs587776350	missense variant	-	NC_000014.9:g.36663228C>G	-
PAX9	P55771	p.Cys112Phe	rs1277360021	missense variant	-	NC_000014.9:g.36663227G>T	gnomAD
PAX9	P55771	p.Asp113Asn	rs375546483	missense variant	-	NC_000014.9:g.36663229G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Asp113His	rs375546483	missense variant	-	NC_000014.9:g.36663229G>C	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Lys114Ter	rs104894467	stop gained	-	NC_000014.9:g.36663232A>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Lys114Ter	RCV000014778	nonsense	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36663232A>T	ClinVar
PAX9	P55771	p.Lys114Gln	rs104894467	missense variant	-	NC_000014.9:g.36663232A>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Tyr115His	rs779248666	missense variant	-	NC_000014.9:g.36663235T>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Asn116His	rs1398460057	missense variant	-	NC_000014.9:g.36663238A>C	gnomAD
PAX9	P55771	p.Asn116Thr	rs915914943	missense variant	-	NC_000014.9:g.36663239A>C	TOPMed,gnomAD
PAX9	P55771	p.Val120Met	rs779689583	missense variant	-	NC_000014.9:g.36663250G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ile123Val	rs746663945	missense variant	-	NC_000014.9:g.36663259A>G	ExAC,gnomAD
PAX9	P55771	p.Ser124Gly	rs768500570	missense variant	-	NC_000014.9:g.36663262A>G	ExAC,gnomAD
PAX9	P55771	p.Ile126Thr	rs1353191222	missense variant	-	NC_000014.9:g.36663269T>C	gnomAD
PAX9	P55771	p.Arg128Cys	rs780940855	missense variant	-	NC_000014.9:g.36663274C>T	ExAC,gnomAD
PAX9	P55771	p.Arg128Ser	rs780940855	missense variant	-	NC_000014.9:g.36663274C>A	ExAC,gnomAD
PAX9	P55771	p.Asn129Lys	rs769798510	missense variant	-	NC_000014.9:g.36663279C>A	ExAC,gnomAD
PAX9	P55771	p.Lys130Arg	rs1396627161	missense variant	-	NC_000014.9:g.36663281A>G	TOPMed
PAX9	P55771	p.Ile131Met	rs772970706	missense variant	-	NC_000014.9:g.36663285C>G	ExAC,gnomAD
PAX9	P55771	p.Gly132Cys	rs1241635384	missense variant	-	NC_000014.9:g.36663286G>T	gnomAD
PAX9	P55771	p.Asn133Ser	rs771977086	missense variant	-	NC_000014.9:g.36663290A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Leu134Phe	rs775918897	missense variant	-	NC_000014.9:g.36663294G>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala135Thr	rs760959243	missense variant	-	NC_000014.9:g.36663295G>A	ExAC,gnomAD
PAX9	P55771	p.Ala135Gly	rs1433127643	missense variant	-	NC_000014.9:g.36663296C>G	TOPMed
PAX9	P55771	p.Gln137Ter	rs764595344	stop gained	-	NC_000014.9:g.36663301C>T	ExAC,gnomAD
PAX9	P55771	p.Gln137Pro	rs1390634538	missense variant	-	NC_000014.9:g.36663302A>C	TOPMed
PAX9	P55771	p.His139Arg	rs754287422	missense variant	-	NC_000014.9:g.36663308A>G	ExAC,gnomAD
PAX9	P55771	p.Ser142Thr	rs1320971893	missense variant	-	NC_000014.9:g.36663316T>A	TOPMed
PAX9	P55771	p.Tyr143Cys	rs139008563	missense variant	-	NC_000014.9:g.36663320A>G	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Tyr143His	rs1402348460	missense variant	-	NC_000014.9:g.36663319T>C	gnomAD
PAX9	P55771	p.His146Asp	rs765791266	missense variant	-	NC_000014.9:g.36663328C>G	ExAC,gnomAD
PAX9	P55771	p.His146Pro	rs750832505	missense variant	-	NC_000014.9:g.36663329A>C	ExAC,gnomAD
PAX9	P55771	p.His146Gln	rs757996388	missense variant	-	NC_000014.9:g.36663330C>G	ExAC,gnomAD
PAX9	P55771	p.Gln147Arg	rs369478673	missense variant	-	NC_000014.9:g.36663332A>G	ESP,TOPMed
PAX9	P55771	p.Gln147Lys	rs1337728121	missense variant	-	NC_000014.9:g.36663331C>A	TOPMed,gnomAD
PAX9	P55771	p.Pro148Leu	rs974072582	missense variant	-	NC_000014.9:g.36663335C>T	TOPMed,gnomAD
PAX9	P55771	p.Pro148Gln	rs974072582	missense variant	-	NC_000014.9:g.36663335C>A	TOPMed,gnomAD
PAX9	P55771	p.Thr149Met	rs1215426320	missense variant	-	NC_000014.9:g.36663338C>T	gnomAD
PAX9	P55771	p.Pro150Arg	rs1436963184	missense variant	-	NC_000014.9:g.36663341C>G	TOPMed,gnomAD
PAX9	P55771	p.Gln151Lys	rs1261824175	missense variant	-	NC_000014.9:g.36663343C>A	gnomAD
PAX9	P55771	p.Pro152Ser	rs779529500	missense variant	-	NC_000014.9:g.36663346C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala153Val	rs773508045	missense variant	-	NC_000014.9:g.36663350C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala153Glu	rs773508045	missense variant	-	NC_000014.9:g.36663350C>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro155Ala	rs747994128	missense variant	-	NC_000014.9:g.36663355C>G	ExAC,gnomAD
PAX9	P55771	p.Tyr156Ter	RCV000623432	frameshift	Inborn genetic diseases	NC_000014.9:g.36663356_36663357dup	ClinVar
PAX9	P55771	p.His158Arg	rs769417655	missense variant	-	NC_000014.9:g.36663365A>G	ExAC,gnomAD
PAX9	P55771	p.Ile159Asn	rs1428500752	missense variant	-	NC_000014.9:g.36663368T>A	gnomAD
PAX9	P55771	p.Ile159Val	rs1275548945	missense variant	-	NC_000014.9:g.36663367A>G	TOPMed
PAX9	P55771	p.Tyr160His	rs1246127494	missense variant	-	NC_000014.9:g.36663370T>C	TOPMed
PAX9	P55771	p.Pro165Arg	rs1417181500	missense variant	-	NC_000014.9:g.36663386C>G	gnomAD
PAX9	P55771	p.Thr167Lys	rs769021972	missense variant	-	NC_000014.9:g.36663392C>A	ExAC,gnomAD
PAX9	P55771	p.Ala169Ser	rs1459944015	missense variant	-	NC_000014.9:g.36663397G>T	gnomAD
PAX9	P55771	p.Ala169Gly	rs1323425581	missense variant	-	NC_000014.9:g.36663398C>G	TOPMed,gnomAD
PAX9	P55771	p.Ala169Val	rs1323425581	missense variant	-	NC_000014.9:g.36663398C>T	TOPMed,gnomAD
PAX9	P55771	p.Ala171Thr	RCV000317164	missense variant	-	NC_000014.9:g.36663403G>A	ClinVar
PAX9	P55771	p.Ala171Thr	rs143020311	missense variant	-	NC_000014.9:g.36663403G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Lys172Gln	rs763349761	missense variant	-	NC_000014.9:g.36663406A>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr175Met	RCV000286437	missense variant	-	NC_000014.9:g.36663416C>T	ClinVar
PAX9	P55771	p.Thr175Met	rs370909756	missense variant	-	NC_000014.9:g.36663416C>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro176Thr	rs767167192	missense variant	-	NC_000014.9:g.36663418C>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro176Ser	rs767167192	missense variant	-	NC_000014.9:g.36663418C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro177Leu	rs752223751	missense variant	-	NC_000014.9:g.36663422C>T	ExAC,gnomAD
PAX9	P55771	p.Gly178Arg	rs1327319164	missense variant	-	NC_000014.9:g.36663424G>A	gnomAD
PAX9	P55771	p.Gly178Ala	rs1355919130	missense variant	-	NC_000014.9:g.36663425G>C	TOPMed,gnomAD
PAX9	P55771	p.Val179Met	rs376393242	missense variant	-	NC_000014.9:g.36663427G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Val179Leu	rs376393242	missense variant	-	NC_000014.9:g.36663427G>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro180Ser	rs757294221	missense variant	-	NC_000014.9:g.36663430C>T	ExAC,gnomAD
PAX9	P55771	p.Gly184Ser	rs778946289	missense variant	-	NC_000014.9:g.36663442G>A	ExAC,gnomAD
PAX9	P55771	p.Ser185Trp	rs370477014	missense variant	-	NC_000014.9:g.36663446C>G	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala187Thr	rs554969436	missense variant	-	NC_000014.9:g.36663451G>A	1000Genomes,TOPMed,gnomAD
PAX9	P55771	p.Met188Val	rs776983499	missense variant	-	NC_000014.9:g.36663454A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro189Ser	rs1298394734	missense variant	-	NC_000014.9:g.36663457C>T	gnomAD
PAX9	P55771	p.Arg190Leu	rs368669343	missense variant	-	NC_000014.9:g.36663461G>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg190His	rs368669343	missense variant	-	NC_000014.9:g.36663461G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr191Ala	rs763261408	missense variant	-	NC_000014.9:g.36663463A>G	ExAC,gnomAD
PAX9	P55771	p.Trp192Ser	rs956843855	missense variant	-	NC_000014.9:g.36663467G>C	TOPMed,gnomAD
PAX9	P55771	p.Trp192Arg	rs766889588	missense variant	-	NC_000014.9:g.36663466T>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro193Ala	rs774778386	missense variant	-	NC_000014.9:g.36663469C>G	ExAC,gnomAD
PAX9	P55771	p.Ser195Leu	rs371143144	missense variant	-	NC_000014.9:g.36663476C>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.His196Tyr	rs767010050	missense variant	-	NC_000014.9:g.36663478C>T	ExAC,gnomAD
PAX9	P55771	p.Ser197Pro	rs987375990	missense variant	-	NC_000014.9:g.36663481T>C	TOPMed
PAX9	P55771	p.Asp200His	rs1161932041	missense variant	-	NC_000014.9:g.36663490G>C	TOPMed,gnomAD
PAX9	P55771	p.Asp200Tyr	rs1161932041	missense variant	-	NC_000014.9:g.36663490G>T	TOPMed,gnomAD
PAX9	P55771	p.Asp200Asn	rs1161932041	missense variant	-	NC_000014.9:g.36663490G>A	TOPMed,gnomAD
PAX9	P55771	p.Ile201Leu	rs1370600054	missense variant	-	NC_000014.9:g.36663493A>C	TOPMed
PAX9	P55771	p.Gly203Cys	rs757061208	missense variant	-	NC_000014.9:g.36663499G>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly203Val	rs1382192095	missense variant	-	NC_000014.9:g.36663500G>T	gnomAD
PAX9	P55771	p.Gly203Ser	rs757061208	missense variant	-	NC_000014.9:g.36663499G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg205Pro	rs374534090	missense variant	-	NC_000014.9:g.36663506G>C	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg205Leu	rs374534090	missense variant	-	NC_000014.9:g.36663506G>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg205His	rs374534090	missense variant	-	NC_000014.9:g.36663506G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg205Cys	rs755171552	missense variant	-	NC_000014.9:g.36663505C>T	ExAC,gnomAD
PAX9	P55771	p.Ile207Val	rs748445890	missense variant	-	NC_000014.9:g.36663511A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ile207Asn	rs1354058584	missense variant	-	NC_000014.9:g.36663512T>A	gnomAD
PAX9	P55771	p.Thr208Ser	RCV000533935	missense variant	Partial congenital absence of teeth	NC_000014.9:g.36663515C>G	ClinVar
PAX9	P55771	p.Thr208Asn	rs116676854	missense variant	-	NC_000014.9:g.36663515C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr208Ser	rs116676854	missense variant	-	NC_000014.9:g.36663515C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Asp209Glu	rs1257119692	missense variant	-	NC_000014.9:g.36663519C>A	gnomAD
PAX9	P55771	p.Asp209His	rs749662886	missense variant	-	NC_000014.9:g.36663517G>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser212Arg	rs910966729	missense variant	-	NC_000014.9:g.36666466C>A	TOPMed,gnomAD
PAX9	P55771	p.Ser214Gly	rs375436662	missense variant	-	NC_000014.9:g.36666470A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser214Ile	rs1258408690	missense variant	-	NC_000014.9:g.36666471G>T	TOPMed,gnomAD
PAX9	P55771	p.Ser215Phe	rs1206808645	missense variant	-	NC_000014.9:g.36666474C>T	TOPMed,gnomAD
PAX9	P55771	p.Pro216Leu	rs751443373	missense variant	-	NC_000014.9:g.36666477C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.His218Tyr	rs1271193210	missense variant	-	NC_000014.9:g.36666482C>T	gnomAD
PAX9	P55771	p.His218Arg	rs756212377	missense variant	-	NC_000014.9:g.36666483A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser219Asn	rs777895216	missense variant	-	NC_000014.9:g.36666486G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro220Ser	rs757438363	missense variant	-	NC_000014.9:g.36666488C>T	ExAC,gnomAD
PAX9	P55771	p.Lys221Arg	rs779059411	missense variant	-	NC_000014.9:g.36666492A>G	ExAC,gnomAD
PAX9	P55771	p.Lys221Thr	rs779059411	missense variant	-	NC_000014.9:g.36666492A>C	ExAC,gnomAD
PAX9	P55771	p.Glu223Asp	rs746246932	missense variant	-	NC_000014.9:g.36666499G>C	ExAC,gnomAD
PAX9	P55771	p.Ser227Arg	rs1343116306	missense variant	-	NC_000014.9:g.36666511C>G	gnomAD
PAX9	P55771	p.Ser227Arg	rs199777734	missense variant	-	NC_000014.9:g.36666509A>C	1000Genomes,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser227Thr	rs1441276453	missense variant	-	NC_000014.9:g.36666510G>C	TOPMed
PAX9	P55771	p.Leu228Pro	rs780494094	missense variant	-	NC_000014.9:g.36666513T>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly229Asp	rs896951220	missense variant	-	NC_000014.9:g.36666516G>A	TOPMed,gnomAD
PAX9	P55771	p.Gly229Arg	rs768103405	missense variant	-	NC_000014.9:g.36666515G>C	ExAC,gnomAD
PAX9	P55771	p.Arg230Gly	rs776254475	missense variant	-	NC_000014.9:g.36666518C>G	ExAC,gnomAD
PAX9	P55771	p.Arg230Cys	rs776254475	missense variant	-	NC_000014.9:g.36666518C>T	ExAC,gnomAD
PAX9	P55771	p.Arg230Ser	rs776254475	missense variant	-	NC_000014.9:g.36666518C>A	ExAC,gnomAD
PAX9	P55771	p.Arg230Leu	rs368787836	missense variant	-	NC_000014.9:g.36666519G>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Arg230His	rs368787836	missense variant	-	NC_000014.9:g.36666519G>A	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Phe233Leu	rs200733091	missense variant	-	NC_000014.9:g.36666527T>C	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro234Leu	rs1199249859	missense variant	-	NC_000014.9:g.36666531C>T	gnomAD
PAX9	P55771	p.Ala235Thr	rs1425488171	missense variant	-	NC_000014.9:g.36666533G>A	TOPMed
PAX9	P55771	p.Pro238Gln	rs759493655	missense variant	-	NC_000014.9:g.36666543C>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro238Thr	rs774212071	missense variant	-	NC_000014.9:g.36666542C>A	ExAC
PAX9	P55771	p.Pro238Arg	rs759493655	missense variant	-	NC_000014.9:g.36666543C>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.His239Asn	rs1165096156	missense variant	-	NC_000014.9:g.36666545C>A	TOPMed,gnomAD
PAX9	P55771	p.His239Tyr	rs1165096156	missense variant	-	NC_000014.9:g.36666545C>T	TOPMed,gnomAD
PAX9	P55771	p.His239Gln	rs12881240	missense variant	-	NC_000014.9:g.36666547C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala240Pro	RCV000600885	missense variant	Tooth agenesis, selective, 3 (STHAG3)	NC_000014.9:g.36666548G>C	ClinVar
PAX9	P55771	p.Ala240Pro	RCV000247763	missense variant	-	NC_000014.9:g.36666548G>C	ClinVar
PAX9	P55771	p.Ala240Val	rs529235901	missense variant	-	NC_000014.9:g.36666549C>T	1000Genomes,ExAC,gnomAD
PAX9	P55771	p.Ala240Pro	rs4904210	missense variant	-	NC_000014.9:g.36666548G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Val241Met	rs750655844	missense variant	-	NC_000014.9:g.36666551G>A	ExAC
PAX9	P55771	p.Asn242Lys	rs1055255967	missense variant	-	NC_000014.9:g.36666556C>G	TOPMed
PAX9	P55771	p.Gly243Trp	rs1428602414	missense variant	-	NC_000014.9:g.36666557G>T	gnomAD
PAX9	P55771	p.Glu245Gln	rs1269338640	missense variant	-	NC_000014.9:g.36666563G>C	gnomAD
PAX9	P55771	p.Gly247Arg	rs1246917136	missense variant	-	NC_000014.9:g.36666569G>A	gnomAD
PAX9	P55771	p.Ala248Pro	rs1357648227	missense variant	-	NC_000014.9:g.36666572G>C	gnomAD
PAX9	P55771	p.Ala248Val	rs1311113788	missense variant	-	NC_000014.9:g.36666573C>T	TOPMed
PAX9	P55771	p.Glu250Asp	rs200344655	missense variant	-	NC_000014.9:g.36666580G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala253Ser	rs1449195856	missense variant	-	NC_000014.9:g.36666587G>T	gnomAD
PAX9	P55771	p.Lys254Thr	rs1381996308	missense variant	-	NC_000014.9:g.36666591A>C	TOPMed
PAX9	P55771	p.Tyr255Phe	rs1214299184	missense variant	-	NC_000014.9:g.36666594A>T	gnomAD
PAX9	P55771	p.Pro259Ser	rs145974094	missense variant	-	NC_000014.9:g.36676201C>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly261Ser	rs766474912	missense variant	-	NC_000014.9:g.36676207G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly261Ala	rs751979591	missense variant	-	NC_000014.9:g.36676208G>C	ExAC,gnomAD
PAX9	P55771	p.Gly261Cys	rs766474912	missense variant	-	NC_000014.9:g.36676207G>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Val269Leu	rs1398880348	missense variant	-	NC_000014.9:g.36676231G>C	gnomAD
PAX9	P55771	p.Ser272Cys	rs1307454237	missense variant	-	NC_000014.9:g.36676241C>G	gnomAD
PAX9	P55771	p.Ser272Pro	rs1408470378	missense variant	-	NC_000014.9:g.36676240T>C	gnomAD
PAX9	P55771	p.Met274Thr	rs1457710579	missense variant	-	NC_000014.9:g.36676247T>C	TOPMed
PAX9	P55771	p.Met274Val	rs1346257646	missense variant	-	NC_000014.9:g.36676246A>G	gnomAD
PAX9	P55771	p.Pro276Ser	rs866470249	missense variant	-	NC_000014.9:g.36676252C>T	-
PAX9	P55771	p.Tyr277His	rs755333152	missense variant	-	NC_000014.9:g.36676255T>C	ExAC,gnomAD
PAX9	P55771	p.Pro278Ala	rs1331104175	missense variant	-	NC_000014.9:g.36676258C>G	gnomAD
PAX9	P55771	p.Ala281Asp	rs1256308432	missense variant	-	NC_000014.9:g.36676268C>A	TOPMed
PAX9	P55771	p.Ser284Thr	rs748658101	missense variant	-	NC_000014.9:g.36676276T>A	ExAC,gnomAD
PAX9	P55771	p.Ser284Leu	rs1435281638	missense variant	-	NC_000014.9:g.36676277C>T	gnomAD
PAX9	P55771	p.Pro285Leu	rs777314709	missense variant	-	NC_000014.9:g.36676280C>T	ExAC,gnomAD
PAX9	P55771	p.Tyr286Ser	rs1291792613	missense variant	-	NC_000014.9:g.36676283A>C	gnomAD
PAX9	P55771	p.Met287Arg	rs770648636	missense variant	-	NC_000014.9:g.36676286T>G	ExAC,gnomAD
PAX9	P55771	p.Met287Val	rs201709294	missense variant	-	NC_000014.9:g.36676285A>G	1000Genomes,ExAC,gnomAD
PAX9	P55771	p.Met287Lys	rs770648636	missense variant	-	NC_000014.9:g.36676286T>A	ExAC,gnomAD
PAX9	P55771	p.Thr288Asn	rs1220508893	missense variant	-	NC_000014.9:g.36676289C>A	TOPMed
PAX9	P55771	p.Ser290Cys	rs1266569973	missense variant	-	NC_000014.9:g.36676294A>T	gnomAD
PAX9	P55771	p.Ala292Thr	rs773825763	missense variant	-	NC_000014.9:g.36676300G>A	ExAC,gnomAD
PAX9	P55771	p.Ala292Gly	rs745682184	missense variant	-	NC_000014.9:g.36676301C>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro293Ser	rs771849784	missense variant	-	NC_000014.9:g.36676303C>T	ExAC,gnomAD
PAX9	P55771	p.Ser294Ala	rs760586017	missense variant	-	NC_000014.9:g.36676306T>G	ExAC,gnomAD
PAX9	P55771	p.His300Leu	rs773374693	missense variant	-	NC_000014.9:g.36676325A>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.His300Arg	rs773374693	missense variant	-	NC_000014.9:g.36676325A>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly301Arg	rs1301440769	missense variant	-	NC_000014.9:g.36676327G>A	TOPMed,gnomAD
PAX9	P55771	p.Trp302Arg	rs762897043	missense variant	-	NC_000014.9:g.36676330T>C	ExAC,gnomAD
PAX9	P55771	p.Thr308Asn	rs1383311522	missense variant	-	NC_000014.9:g.36676349C>A	TOPMed,gnomAD
PAX9	P55771	p.Thr308Ile	rs1383311522	missense variant	-	NC_000014.9:g.36676349C>T	TOPMed,gnomAD
PAX9	P55771	p.Ser309Leu	rs766641150	missense variant	-	NC_000014.9:g.36676352C>T	ExAC,gnomAD
PAX9	P55771	p.Leu310Phe	rs116602527	missense variant	-	NC_000014.9:g.36676356G>T	1000Genomes,TOPMed,gnomAD
PAX9	P55771	p.Leu310Trp	rs543851630	missense variant	-	NC_000014.9:g.36676355T>G	gnomAD
PAX9	P55771	p.Leu310Phe	rs116602527	missense variant	-	NC_000014.9:g.36676356G>C	1000Genomes,TOPMed,gnomAD
PAX9	P55771	p.Ser311Phe	rs760041338	missense variant	-	NC_000014.9:g.36676358C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser311Ala	rs751662995	missense variant	-	NC_000014.9:g.36676357T>G	ExAC,gnomAD
PAX9	P55771	p.Ser311Cys	rs760041338	missense variant	-	NC_000014.9:g.36676358C>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro312Arg	rs1174935100	missense variant	-	NC_000014.9:g.36676361C>G	TOPMed
PAX9	P55771	p.His313Tyr	rs1243108043	missense variant	-	NC_000014.9:g.36676363C>T	gnomAD
PAX9	P55771	p.Ile317Phe	rs139883801	missense variant	-	NC_000014.9:g.36676375A>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ile317Asn	rs1160799367	missense variant	-	NC_000014.9:g.36676376T>A	TOPMed,gnomAD
PAX9	P55771	p.Ile317Val	rs139883801	missense variant	-	NC_000014.9:g.36676375A>G	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro318Leu	rs372101496	missense variant	-	NC_000014.9:g.36676379C>T	ESP,ExAC,TOPMed,gnomAD
PAX9	P55771	p.Pro318Ser	rs756657081	missense variant	-	NC_000014.9:g.36676378C>T	ExAC,gnomAD
PAX9	P55771	p.Ala319Val	rs1460911849	missense variant	-	NC_000014.9:g.36676382C>T	gnomAD
PAX9	P55771	p.Ser320Trp	rs771366081	missense variant	-	NC_000014.9:g.36676385C>G	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ser320Leu	rs771366081	missense variant	-	NC_000014.9:g.36676385C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Ala322Val	rs1446726204	missense variant	-	NC_000014.9:g.36676391C>T	gnomAD
PAX9	P55771	p.Met326Leu	rs1041320826	missense variant	-	NC_000014.9:g.36676402A>C	TOPMed,gnomAD
PAX9	P55771	p.Met326Leu	rs1041320826	missense variant	-	NC_000014.9:g.36676402A>T	TOPMed,gnomAD
PAX9	P55771	p.Gln327Ter	rs745507886	stop gained	-	NC_000014.9:g.36676405C>T	ExAC,gnomAD
PAX9	P55771	p.Ala328Val	rs1383515076	missense variant	-	NC_000014.9:g.36676409C>T	gnomAD
PAX9	P55771	p.Ala328Thr	rs1291143513	missense variant	-	NC_000014.9:g.36676408G>A	gnomAD
PAX9	P55771	p.Ala329Thr	rs771904928	missense variant	-	NC_000014.9:g.36676411G>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Gly332Cys	rs779795962	missense variant	-	NC_000014.9:g.36676420G>T	ExAC,gnomAD
PAX9	P55771	p.Gly332Ser	rs779795962	missense variant	-	NC_000014.9:g.36676420G>A	ExAC,gnomAD
PAX9	P55771	p.His334Arg	rs1314150744	missense variant	-	NC_000014.9:g.36676427A>G	TOPMed
PAX9	P55771	p.Val336Ala	rs768607356	missense variant	-	NC_000014.9:g.36676433T>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Val336Leu	rs746768464	missense variant	-	NC_000014.9:g.36676432G>C	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr337Lys	rs776377834	missense variant	-	NC_000014.9:g.36676436C>A	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr337Met	rs776377834	missense variant	-	NC_000014.9:g.36676436C>T	ExAC,TOPMed,gnomAD
PAX9	P55771	p.Thr337Ala	rs1317002348	missense variant	-	NC_000014.9:g.36676435A>G	gnomAD
PAX9	P55771	p.Ala338Val	rs763088741	missense variant	-	NC_000014.9:g.36676439C>T	ExAC,gnomAD
PAX9	P55771	p.Ser339Ala	rs1307023672	missense variant	-	NC_000014.9:g.36676441T>G	TOPMed
DLX1	P56177	p.Thr2Ile	rs745500906	missense variant	-	NC_000002.12:g.172085682C>T	ExAC,gnomAD
DLX1	P56177	p.Met3Lys	COSM4086773	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172085685T>A	NCI-TCGA Cosmic
DLX1	P56177	p.Thr4Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172085688C>G	NCI-TCGA
DLX1	P56177	p.Leu10Arg	rs1045343815	missense variant	-	NC_000002.12:g.172085706T>G	TOPMed
DLX1	P56177	p.Leu10Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172085705C>T	NCI-TCGA
DLX1	P56177	p.Asn11Asp	rs1418085191	missense variant	-	NC_000002.12:g.172085708A>G	gnomAD
DLX1	P56177	p.Asn11Lys	rs1200622733	missense variant	-	NC_000002.12:g.172085710C>A	gnomAD
DLX1	P56177	p.Ser12Asn	rs1431842655	missense variant	-	NC_000002.12:g.172085712G>A	gnomAD
DLX1	P56177	p.Pro13Ser	rs1468732626	missense variant	-	NC_000002.12:g.172085714C>T	gnomAD
DLX1	P56177	p.Val14Leu	rs961436892	missense variant	-	NC_000002.12:g.172085717G>T	gnomAD
DLX1	P56177	p.Val14Leu	rs961436892	missense variant	-	NC_000002.12:g.172085717G>C	gnomAD
DLX1	P56177	p.Val14Met	rs961436892	missense variant	-	NC_000002.12:g.172085717G>A	gnomAD
DLX1	P56177	p.Lys17Arg	rs768424631	missense variant	-	NC_000002.12:g.172085727A>G	ExAC,gnomAD
DLX1	P56177	p.Val19Ala	rs776516857	missense variant	-	NC_000002.12:g.172085733T>C	ExAC,TOPMed,gnomAD
DLX1	P56177	p.Phe20Val	rs1347202723	missense variant	-	NC_000002.12:g.172085735T>G	gnomAD
DLX1	P56177	p.Met21Thr	rs1221439628	missense variant	-	NC_000002.12:g.172085739T>C	gnomAD
DLX1	P56177	p.Gly24Ala	rs1300579344	missense variant	-	NC_000002.12:g.172085748G>C	gnomAD
DLX1	P56177	p.Pro25Gln	rs761445680	missense variant	-	NC_000002.12:g.172085751C>A	ExAC,gnomAD
DLX1	P56177	p.Asn27Thr	rs1249056203	missense variant	-	NC_000002.12:g.172085757A>C	TOPMed,gnomAD
DLX1	P56177	p.Asn27Ser	rs1249056203	missense variant	-	NC_000002.12:g.172085757A>G	TOPMed,gnomAD
DLX1	P56177	p.Met30Lys	rs759727510	missense variant	-	NC_000002.12:g.172085766T>A	ExAC,gnomAD
DLX1	P56177	p.Met30Ile	rs1270557986	missense variant	-	NC_000002.12:g.172085767G>T	gnomAD
DLX1	P56177	p.Met30Thr	COSM4086774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172085766T>C	NCI-TCGA Cosmic
DLX1	P56177	p.Ser31Thr	rs1479690750	missense variant	-	NC_000002.12:g.172085768T>A	gnomAD
DLX1	P56177	p.Ser31Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172085769C>A	NCI-TCGA
DLX1	P56177	p.Pro34Ser	rs752675263	missense variant	-	NC_000002.12:g.172085777C>T	ExAC,gnomAD
DLX1	P56177	p.Pro34Leu	rs1168453209	missense variant	-	NC_000002.12:g.172085778C>T	gnomAD
DLX1	P56177	p.Met35Thr	rs756676482	missense variant	-	NC_000002.12:g.172085781T>C	ExAC,TOPMed,gnomAD
DLX1	P56177	p.His37Gln	rs377533627	missense variant	-	NC_000002.12:g.172085788C>G	ESP,ExAC,TOPMed,gnomAD
DLX1	P56177	p.Gly38Arg	rs754243945	missense variant	-	NC_000002.12:g.172085789G>A	ExAC,TOPMed,gnomAD
DLX1	P56177	p.Gly38Trp	rs754243945	missense variant	-	NC_000002.12:g.172085789G>T	ExAC,TOPMed,gnomAD
DLX1	P56177	p.His39Arg	rs757622093	missense variant	-	NC_000002.12:g.172085793A>G	ExAC,gnomAD
DLX1	P56177	p.Ala48Pro	rs745554362	missense variant	-	NC_000002.12:g.172085819G>C	ExAC,gnomAD
DLX1	P56177	p.Asp54Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172085839C>A	NCI-TCGA
DLX1	P56177	p.Gly55Ser	rs746459212	missense variant	-	NC_000002.12:g.172085840G>A	ExAC,gnomAD
DLX1	P56177	p.Ala56Thr	rs776371692	missense variant	-	NC_000002.12:g.172085843G>A	ExAC,TOPMed,gnomAD
DLX1	P56177	p.Ala56Ser	rs776371692	missense variant	-	NC_000002.12:g.172085843G>T	ExAC,TOPMed,gnomAD
DLX1	P56177	p.Ser58Gly	rs1489680807	missense variant	-	NC_000002.12:g.172085849A>G	gnomAD
DLX1	P56177	p.Ser59Ala	rs370746183	missense variant	-	NC_000002.12:g.172085852T>G	ESP
DLX1	P56177	p.Ala60Val	rs772973657	missense variant	-	NC_000002.12:g.172085856C>T	ExAC,gnomAD
DLX1	P56177	p.Ala60Gly	rs772973657	missense variant	-	NC_000002.12:g.172085856C>G	ExAC,gnomAD
DLX1	P56177	p.Ser61Trp	rs1030164191	missense variant	-	NC_000002.12:g.172085859C>G	TOPMed
DLX1	P56177	p.Arg65Leu	rs1445372863	missense variant	-	NC_000002.12:g.172085871G>T	gnomAD
DLX1	P56177	p.Pro66Arg	rs775644107	missense variant	-	NC_000002.12:g.172085874C>G	ExAC,gnomAD
DLX1	P56177	p.Pro66Ser	rs1165545209	missense variant	-	NC_000002.12:g.172085873C>T	gnomAD
DLX1	P56177	p.Leu67Val	rs764222229	missense variant	-	NC_000002.12:g.172085876C>G	ExAC,gnomAD
DLX1	P56177	p.Pro70Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172085885C>T	NCI-TCGA
DLX1	P56177	p.Ser77Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172085907G>T	NCI-TCGA
DLX1	P56177	p.His78Gln	rs750767486	missense variant	-	NC_000002.12:g.172085911C>A	ExAC,gnomAD
DLX1	P56177	p.Ala79Ser	rs758150939	missense variant	-	NC_000002.12:g.172085912G>T	ExAC,gnomAD
DLX1	P56177	p.Ala79Thr	rs758150939	missense variant	-	NC_000002.12:g.172085912G>A	ExAC,gnomAD
DLX1	P56177	p.Ser80Pro	rs1268925130	missense variant	-	NC_000002.12:g.172085915T>C	TOPMed
DLX1	P56177	p.Tyr83His	rs1284481950	missense variant	-	NC_000002.12:g.172085924T>C	TOPMed,gnomAD
DLX1	P56177	p.Ile84Val	rs141673847	missense variant	-	NC_000002.12:g.172085927A>G	ESP,ExAC,TOPMed,gnomAD
DLX1	P56177	p.Ser85Asn	rs374426875	missense variant	-	NC_000002.12:g.172085931G>A	ESP,ExAC,gnomAD
DLX1	P56177	p.Val87Met	rs1416804461	missense variant	-	NC_000002.12:g.172085936G>A	gnomAD
DLX1	P56177	p.Ser89Pro	rs1286746789	missense variant	-	NC_000002.12:g.172085942T>C	TOPMed
DLX1	P56177	p.Pro91Arg	rs1472610182	missense variant	-	NC_000002.12:g.172085949C>G	gnomAD
DLX1	P56177	p.Pro91Ala	rs780725545	missense variant	-	NC_000002.12:g.172085948C>G	ExAC,TOPMed,gnomAD
DLX1	P56177	p.Ser95Ile	rs1402292318	missense variant	-	NC_000002.12:g.172085961G>T	TOPMed,gnomAD
DLX1	P56177	p.Ala97Ser	rs920037932	missense variant	-	NC_000002.12:g.172085966G>T	TOPMed,gnomAD
DLX1	P56177	p.Arg100His	rs1379991738	missense variant	-	NC_000002.12:g.172085976G>A	gnomAD
DLX1	P56177	p.Arg100Cys	rs769673494	missense variant	-	NC_000002.12:g.172085975C>T	ExAC,gnomAD
DLX1	P56177	p.Leu101Val	COSM4086775	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172085978C>G	NCI-TCGA Cosmic
DLX1	P56177	p.Glu102Lys	rs1289931029	missense variant	-	NC_000002.12:g.172085981G>A	TOPMed
DLX1	P56177	p.Ala106Pro	rs756053801	missense variant	-	NC_000002.12:g.172086656G>C	ExAC,gnomAD
DLX1	P56177	p.Ser111Gly	rs1168016460	missense variant	-	NC_000002.12:g.172086671A>G	gnomAD
DLX1	P56177	p.Ser111Arg	rs1273928670	missense variant	-	NC_000002.12:g.172086673C>A	gnomAD
DLX1	P56177	p.Val113Met	rs1322206937	missense variant	-	NC_000002.12:g.172086677G>A	gnomAD
DLX1	P56177	p.Val114Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086680G>T	NCI-TCGA
DLX1	P56177	p.Gly116Ser	rs747241111	missense variant	-	NC_000002.12:g.172086686G>A	ExAC,gnomAD
DLX1	P56177	p.Gly117Asp	rs1365800722	missense variant	-	NC_000002.12:g.172086690G>A	gnomAD
DLX1	P56177	p.Glu118Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086694A>C	NCI-TCGA
DLX1	P56177	p.Arg120Ser	rs1321917026	missense variant	-	NC_000002.12:g.172086698C>A	TOPMed,gnomAD
DLX1	P56177	p.Gly125Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086714G>A	NCI-TCGA
DLX1	P56177	p.Lys127ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.172086715A>-	NCI-TCGA
DLX1	P56177	p.Ile128Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086722A>C	NCI-TCGA
DLX1	P56177	p.Ile134Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086740A>C	NCI-TCGA
DLX1	P56177	p.Ile134Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086742T>G	NCI-TCGA
DLX1	P56177	p.Ser136Cys	rs17853565	missense variant	-	NC_000002.12:g.172086747C>G	-
DLX1	P56177	p.Ser136Cys	rs17853565	missense variant	-	NC_000002.12:g.172086747C>G	UniProt,dbSNP
DLX1	P56177	p.Ser136Cys	VAR_028443	missense variant	-	NC_000002.12:g.172086747C>G	UniProt
DLX1	P56177	p.Ser137Asn	rs200145287	missense variant	-	NC_000002.12:g.172086750G>A	1000Genomes,ExAC,gnomAD
DLX1	P56177	p.Leu140Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086759T>C	NCI-TCGA
DLX1	P56177	p.Asn144Ser	rs1258669882	missense variant	-	NC_000002.12:g.172086771A>G	gnomAD
DLX1	P56177	p.Arg145Gln	rs1224459219	missense variant	-	NC_000002.12:g.172086774G>A	gnomAD
DLX1	P56177	p.Glu157Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086811G>T	NCI-TCGA
DLX1	P56177	p.Glu157Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086811G>C	NCI-TCGA
DLX1	P56177	p.Glu160Asp	rs751903911	missense variant	-	NC_000002.12:g.172086820G>T	ExAC,TOPMed,gnomAD
DLX1	P56177	p.Leu161Val	rs759144022	missense variant	-	NC_000002.12:g.172086821C>G	ExAC,gnomAD
DLX1	P56177	p.Ser164Cys	rs1194192200	missense variant	-	NC_000002.12:g.172086831C>G	TOPMed,gnomAD
DLX1	P56177	p.Leu165GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.172086832_172086833TT>-	NCI-TCGA
DLX1	P56177	p.Thr168Ile	rs1026206196	missense variant	-	NC_000002.12:g.172086843C>T	TOPMed,gnomAD
DLX1	P56177	p.Thr168Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172086842A>G	NCI-TCGA
DLX1	P56177	p.Val172Ile	rs751413970	missense variant	-	NC_000002.12:g.172088003G>A	ExAC,gnomAD
DLX1	P56177	p.Phe176Tyr	rs1226930755	missense variant	-	NC_000002.12:g.172088016T>A	gnomAD
DLX1	P56177	p.Arg180Ter	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172088027C>T	NCI-TCGA
DLX1	P56177	p.Lys182Asn	rs1221030903	missense variant	-	NC_000002.12:g.172088035G>T	gnomAD
DLX1	P56177	p.Phe183Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172088037T>G	NCI-TCGA
DLX1	P56177	p.Met187Ile	rs376171844	missense variant	-	NC_000002.12:g.172088050G>A	ESP,ExAC,TOPMed,gnomAD
DLX1	P56177	p.Met187ThrLeuValGlnGluTrpPheTerIleGlnArgGluValGlnGlnAsnLeu	rs768152552	stop gained	-	NC_000002.12:g.172088048_172088049insCACTAGTGCAAGAATGGTTTTGAATCCAAAGAGAAGTTCAGCAAAACC	ExAC
DLX1	P56177	p.Ala192Glu	rs1040620446	missense variant	-	NC_000002.12:g.172088064C>A	TOPMed,gnomAD
DLX1	P56177	p.Ala192Val	rs1040620446	missense variant	-	NC_000002.12:g.172088064C>T	TOPMed,gnomAD
DLX1	P56177	p.Ala192Ser	rs1442095232	missense variant	-	NC_000002.12:g.172088063G>T	gnomAD
DLX1	P56177	p.Ala192Pro	COSM6088357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088063G>C	NCI-TCGA Cosmic
DLX1	P56177	p.Ser197Gly	rs138502787	missense variant	-	NC_000002.12:g.172088078A>G	ESP,ExAC,TOPMed,gnomAD
DLX1	P56177	p.Ser197Thr	rs1258981343	missense variant	-	NC_000002.12:g.172088079G>C	TOPMed
DLX1	P56177	p.Ala198Val	rs1478285655	missense variant	-	NC_000002.12:g.172088082C>T	gnomAD
DLX1	P56177	p.Ala198Thr	rs898067787	missense variant	-	NC_000002.12:g.172088081G>A	TOPMed
DLX1	P56177	p.Ala200Thr	rs1173850140	missense variant	-	NC_000002.12:g.172088087G>A	gnomAD
DLX1	P56177	p.Ala200Val	rs779074889	missense variant	-	NC_000002.12:g.172088088C>T	ExAC,TOPMed,gnomAD
DLX1	P56177	p.Asn201Ser	rs1168898692	missense variant	-	NC_000002.12:g.172088091A>G	gnomAD
DLX1	P56177	p.Arg203Pro	rs758908128	missense variant	-	NC_000002.12:g.172088097G>C	ExAC,gnomAD
DLX1	P56177	p.Gly208Val	rs1458562472	missense variant	-	NC_000002.12:g.172088112G>T	TOPMed,gnomAD
DLX1	P56177	p.Pro210Ala	rs747497909	missense variant	-	NC_000002.12:g.172088117C>G	ExAC,gnomAD
DLX1	P56177	p.Pro210Ser	COSM4896813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088117C>T	NCI-TCGA Cosmic
DLX1	P56177	p.Pro211His	rs1273553981	missense variant	-	NC_000002.12:g.172088121C>A	TOPMed,gnomAD
DLX1	P56177	p.Val212Leu	rs1215230348	missense variant	-	NC_000002.12:g.172088123G>T	gnomAD
DLX1	P56177	p.Pro213Leu	rs747883157	missense variant	-	NC_000002.12:g.172088127C>T	ExAC,gnomAD
DLX1	P56177	p.Gly215Cys	rs1250744657	missense variant	-	NC_000002.12:g.172088132G>T	gnomAD
DLX1	P56177	p.Gly215Ser	rs1250744657	missense variant	-	NC_000002.12:g.172088132G>A	gnomAD
DLX1	P56177	p.Pro218Thr	rs199592485	missense variant	-	NC_000002.12:g.172088141C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX1	P56177	p.Pro218Leu	rs1244895794	missense variant	-	NC_000002.12:g.172088142C>T	gnomAD
DLX1	P56177	p.Pro218Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172088141C>T	NCI-TCGA
DLX1	P56177	p.Asn219Asp	rs774501591	missense variant	-	NC_000002.12:g.172088144A>G	ExAC,gnomAD
DLX1	P56177	p.Asn219Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172088145A>C	NCI-TCGA
DLX1	P56177	p.Ser221Ala	rs759519725	missense variant	-	NC_000002.12:g.172088150T>G	ExAC,gnomAD
DLX1	P56177	p.Ser222Phe	rs1394180707	missense variant	-	NC_000002.12:g.172088154C>T	TOPMed
DLX1	P56177	p.Ser222Thr	rs767472300	missense variant	-	NC_000002.12:g.172088153T>A	ExAC,TOPMed,gnomAD
DLX1	P56177	p.Ser222AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.172088151_172088152insTG	NCI-TCGA
DLX1	P56177	p.Gly223Arg	rs927180879	missense variant	-	NC_000002.12:g.172088156G>A	TOPMed
DLX1	P56177	p.Gly223Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172088157G>A	NCI-TCGA
DLX1	P56177	p.Gly225Ala	rs1419038406	missense variant	-	NC_000002.12:g.172088163G>C	TOPMed,gnomAD
DLX1	P56177	p.Ser226Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172088165T>G	NCI-TCGA
DLX1	P56177	p.Gly228Val	rs960341904	missense variant	-	NC_000002.12:g.172088172G>T	gnomAD
DLX1	P56177	p.Gly228Glu	COSM3570014	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088172G>A	NCI-TCGA Cosmic
DLX1	P56177	p.Ala230Val	rs1401140731	missense variant	-	NC_000002.12:g.172088178C>T	gnomAD
DLX1	P56177	p.Ala230Thr	rs1172559031	missense variant	-	NC_000002.12:g.172088177G>A	gnomAD
DLX1	P56177	p.Gly231Ser	rs1322214897	missense variant	-	NC_000002.12:g.172088180G>A	gnomAD
DLX1	P56177	p.Ile234Val	rs750525757	missense variant	-	NC_000002.12:g.172088189A>G	ExAC,gnomAD
DLX1	P56177	p.Pro235Ser	rs1363322593	missense variant	-	NC_000002.12:g.172088192C>T	TOPMed,gnomAD
DLX1	P56177	p.Ser236Asn	rs752100178	missense variant	-	NC_000002.12:g.172088196G>A	ExAC,gnomAD
DLX1	P56177	p.Ser236Arg	rs377685238	missense variant	-	NC_000002.12:g.172088197C>A	ESP,TOPMed,gnomAD
DLX1	P56177	p.Tyr237Cys	rs1356859511	missense variant	-	NC_000002.12:g.172088199A>G	gnomAD
DLX1	P56177	p.Thr238Lys	rs1211408844	missense variant	-	NC_000002.12:g.172088202C>A	TOPMed,gnomAD
DLX1	P56177	p.Ser239Leu	COSM244057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088205C>T	NCI-TCGA Cosmic
DLX1	P56177	p.Trp240Arg	COSM4086776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172088207T>C	NCI-TCGA Cosmic
DLX1	P56177	p.Pro242Leu	rs1450905549	missense variant	-	NC_000002.12:g.172088214C>T	gnomAD
DLX1	P56177	p.Ala244Val	rs1188668689	missense variant	-	NC_000002.12:g.172088220C>T	gnomAD
DLX1	P56177	p.Ala248Ser	rs748395831	missense variant	-	NC_000002.12:g.172088231G>T	ExAC,gnomAD
DLX1	P56177	p.Pro252Ser	rs777348613	missense variant	-	NC_000002.12:g.172088243C>T	ExAC,gnomAD
DLX1	P56177	p.Leu254Ile	rs1275261201	missense variant	-	NC_000002.12:g.172088249C>A	TOPMed,gnomAD
DLX1	P56177	p.Leu254Pro	rs1323098440	missense variant	-	NC_000002.12:g.172088250T>C	gnomAD
DLX1	P56177	p.Met255Leu	rs1374760175	missense variant	-	NC_000002.12:g.172088252A>C	TOPMed
DLX1	P56177	p.Ter256Trp	rs1386607248	stop lost	-	NC_000002.12:g.172088257A>G	gnomAD
DLX5	P56178	p.Gly3Arg	rs780335780	missense variant	-	NC_000007.14:g.97024617C>T	ExAC,gnomAD
DLX5	P56178	p.Val4Met	rs758818059	missense variant	-	NC_000007.14:g.97024614C>T	ExAC,gnomAD
DLX5	P56178	p.Arg8Thr	rs546551494	missense variant	-	NC_000007.14:g.97024601C>G	1000Genomes,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ser11Gly	rs1386029295	missense variant	-	NC_000007.14:g.97024593T>C	TOPMed
DLX5	P56178	p.Arg13Ter	rs753811703	stop gained	-	NC_000007.14:g.97024587G>A	ExAC,gnomAD
DLX5	P56178	p.Arg13Gln	rs1019627015	missense variant	-	NC_000007.14:g.97024586C>T	TOPMed
DLX5	P56178	p.Arg13Pro	rs1019627015	missense variant	-	NC_000007.14:g.97024586C>G	TOPMed
DLX5	P56178	p.Gly15Asp	rs1460070802	missense variant	-	NC_000007.14:g.97024580C>T	gnomAD
DLX5	P56178	p.Asp16Tyr	rs1481565343	missense variant	-	NC_000007.14:g.97024578C>A	gnomAD
DLX5	P56178	p.Asp16Gly	rs1209966732	missense variant	-	NC_000007.14:g.97024577T>C	gnomAD
DLX5	P56178	p.Phe17Leu	rs1282604706	missense variant	-	NC_000007.14:g.97024573G>C	gnomAD
DLX5	P56178	p.Ala19Thr	rs1358516425	missense variant	-	NC_000007.14:g.97024569C>T	TOPMed
DLX5	P56178	p.Ala19Asp	rs751606335	missense variant	-	NC_000007.14:g.97024568G>T	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ala19Gly	rs751606335	missense variant	-	NC_000007.14:g.97024568G>C	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro20Arg	rs1380318930	missense variant	-	NC_000007.14:g.97024565G>C	TOPMed,gnomAD
DLX5	P56178	p.Ala26Gly	rs1380008091	missense variant	-	NC_000007.14:g.97024547G>C	gnomAD
DLX5	P56178	p.Ala26Thr	rs762883258	missense variant	-	NC_000007.14:g.97024548C>T	ExAC,gnomAD
DLX5	P56178	p.Met27Thr	rs772980357	missense variant	-	NC_000007.14:g.97024544A>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.His29Arg	rs1321899766	missense variant	-	NC_000007.14:g.97024538T>C	gnomAD
DLX5	P56178	p.Pro30Arg	rs1351019836	missense variant	-	NC_000007.14:g.97024535G>C	TOPMed
DLX5	P56178	p.Ser31Ala	rs1387762480	missense variant	-	NC_000007.14:g.97024533A>C	gnomAD
DLX5	P56178	p.Gln32Glu	rs1156699150	missense variant	-	NC_000007.14:g.97024530G>C	gnomAD
DLX5	P56178	p.Ser34Trp	rs1241641626	missense variant	-	NC_000007.14:g.97024523G>C	TOPMed
DLX5	P56178	p.Pro35Arg	rs1488221689	missense variant	-	NC_000007.14:g.97024520G>C	TOPMed
DLX5	P56178	p.Thr36Asn	rs1027144136	missense variant	-	NC_000007.14:g.97024517G>T	TOPMed
DLX5	P56178	p.Pro38Arg	rs775940925	missense variant	-	NC_000007.14:g.97024511G>C	ExAC
DLX5	P56178	p.Pro38Ser	rs761561778	missense variant	-	NC_000007.14:g.97024512G>A	ExAC,gnomAD
DLX5	P56178	p.Glu39Ter	RCV000144533	nonsense	Split-hand/foot malformation 1 (SHFM1)	NC_000007.14:g.97024509C>A	ClinVar
DLX5	P56178	p.Glu39Ter	rs587777842	stop gained	-	NC_000007.14:g.97024509C>A	-
DLX5	P56178	p.Ser40Ala	rs1442997651	missense variant	-	NC_000007.14:g.97024506A>C	gnomAD
DLX5	P56178	p.Ser41Leu	rs1249997837	missense variant	-	NC_000007.14:g.97024502G>A	gnomAD
DLX5	P56178	p.Thr43Asn	rs529675199	missense variant	-	NC_000007.14:g.97024496G>T	1000Genomes,ExAC,gnomAD
DLX5	P56178	p.Asp44Ala	rs747497977	missense variant	-	NC_000007.14:g.97024493T>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ser45Pro	rs780601695	missense variant	-	NC_000007.14:g.97024491A>G	ExAC,gnomAD
DLX5	P56178	p.Asp46Glu	rs370973096	missense variant	-	NC_000007.14:g.97024486G>T	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Asp46Ala	rs746277945	missense variant	-	NC_000007.14:g.97024487T>G	ExAC,gnomAD
DLX5	P56178	p.Thr51Arg	rs754104569	missense variant	-	NC_000007.14:g.97024472G>C	ExAC,gnomAD
DLX5	P56178	p.Thr51Ala	rs897341603	missense variant	-	NC_000007.14:g.97024473T>C	TOPMed
DLX5	P56178	p.Thr51Met	rs754104569	missense variant	-	NC_000007.14:g.97024472G>A	ExAC,gnomAD
DLX5	P56178	p.Gly52Arg	rs756330186	missense variant	-	NC_000007.14:g.97024470C>G	ExAC,gnomAD
DLX5	P56178	p.Pro55Gln	rs1438523956	missense variant	-	NC_000007.14:g.97024460G>T	gnomAD
DLX5	P56178	p.Pro55Ser	rs1287089023	missense variant	-	NC_000007.14:g.97024461G>A	gnomAD
DLX5	P56178	p.Pro55Leu	rs1438523956	missense variant	-	NC_000007.14:g.97024460G>A	gnomAD
DLX5	P56178	p.His56Gln	rs1322581475	missense variant	-	NC_000007.14:g.97024456G>C	gnomAD
DLX5	P56178	p.His56Pro	rs766476023	missense variant	-	NC_000007.14:g.97024457T>G	ExAC,gnomAD
DLX5	P56178	p.Gly57Ser	rs1054920289	missense variant	-	NC_000007.14:g.97024455C>T	TOPMed
DLX5	P56178	p.Gly57Val	rs1422981819	missense variant	-	NC_000007.14:g.97024454C>A	gnomAD
DLX5	P56178	p.Tyr58Phe	rs763009516	missense variant	-	NC_000007.14:g.97024451T>A	ExAC,gnomAD
DLX5	P56178	p.Cys59Arg	rs750148914	missense variant	-	NC_000007.14:g.97024449A>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro61Leu	rs765089599	missense variant	-	NC_000007.14:g.97024442G>A	ExAC,gnomAD
DLX5	P56178	p.Thr62Pro	rs776399251	missense variant	-	NC_000007.14:g.97024440T>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Thr62Ala	rs776399251	missense variant	-	NC_000007.14:g.97024440T>C	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Thr62Ile	rs1298056608	missense variant	-	NC_000007.14:g.97024439G>A	TOPMed,gnomAD
DLX5	P56178	p.Ser63Thr	rs140706964	missense variant	-	NC_000007.14:g.97024437A>T	ESP,TOPMed,gnomAD
DLX5	P56178	p.Ala64Val	rs924964248	missense variant	-	NC_000007.14:g.97024433G>A	gnomAD
DLX5	P56178	p.Ala64Gly	rs924964248	missense variant	-	NC_000007.14:g.97024433G>C	gnomAD
DLX5	P56178	p.Ser65Phe	rs768147070	missense variant	-	NC_000007.14:g.97024430G>A	ExAC,gnomAD
DLX5	P56178	p.Ala69Thr	rs1335939391	missense variant	-	NC_000007.14:g.97024419C>T	TOPMed
DLX5	P56178	p.Leu70Phe	rs1489731491	missense variant	-	NC_000007.14:g.97024416G>A	gnomAD
DLX5	P56178	p.Pro72Leu	rs1306382731	missense variant	-	NC_000007.14:g.97024409G>A	TOPMed
DLX5	P56178	p.Gln74Arg	rs760216169	missense variant	-	NC_000007.14:g.97024403T>C	ExAC,gnomAD
DLX5	P56178	p.Tyr75Cys	rs1292811136	missense variant	-	NC_000007.14:g.97024400T>C	gnomAD
DLX5	P56178	p.Tyr77His	rs746404550	missense variant	-	NC_000007.14:g.97024395A>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Tyr77Cys	rs147255037	missense variant	-	NC_000007.14:g.97024394T>C	ESP,ExAC
DLX5	P56178	p.Gly79Cys	rs1402821348	missense variant	-	NC_000007.14:g.97024389C>A	gnomAD
DLX5	P56178	p.Val80Ala	rs149635296	missense variant	-	NC_000007.14:g.97024385A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Val80Glu	rs149635296	missense variant	-	NC_000007.14:g.97024385A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Gly82Ser	rs748192072	missense variant	-	NC_000007.14:g.97024380C>T	ExAC,gnomAD
DLX5	P56178	p.Ser83Phe	rs781456431	missense variant	-	NC_000007.14:g.97024376G>A	ExAC,gnomAD
DLX5	P56178	p.Ala84Pro	rs758348857	missense variant	-	NC_000007.14:g.97024374C>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ala84Val	rs750391934	missense variant	-	NC_000007.14:g.97024373G>A	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ala84Thr	rs758348857	missense variant	-	NC_000007.14:g.97024374C>T	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Gly85Arg	rs753398910	missense variant	-	NC_000007.14:g.97024371C>T	ExAC,gnomAD
DLX5	P56178	p.Gly85Ala	rs1252989005	missense variant	-	NC_000007.14:g.97024370C>G	TOPMed,gnomAD
DLX5	P56178	p.Ser86Arg	rs150866607	missense variant	-	NC_000007.14:g.97024366G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Tyr87His	rs767020052	missense variant	-	NC_000007.14:g.97024365A>G	ExAC,gnomAD
DLX5	P56178	p.Pro88Ser	rs376161860	missense variant	-	NC_000007.14:g.97024362G>A	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro88Thr	rs376161860	missense variant	-	NC_000007.14:g.97024362G>T	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro88Ala	rs376161860	missense variant	-	NC_000007.14:g.97024362G>C	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ala89Asp	rs141521941	missense variant	-	NC_000007.14:g.97024358G>T	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ala91Ser	rs749709560	missense variant	-	NC_000007.14:g.97024353C>A	ExAC,gnomAD
DLX5	P56178	p.Tyr92Ter	rs1221605189	stop gained	-	NC_000007.14:g.97024348A>C	TOPMed,gnomAD
DLX5	P56178	p.Ser96Thr	rs1288684596	missense variant	-	NC_000007.14:g.97024337C>G	gnomAD
DLX5	P56178	p.Ser96Arg	rs773469855	missense variant	-	NC_000007.14:g.97024336G>C	ExAC
DLX5	P56178	p.Ala98Pro	rs1448447256	missense variant	-	NC_000007.14:g.97024332C>G	TOPMed
DLX5	P56178	p.Ser99Thr	rs1371401203	missense variant	-	NC_000007.14:g.97024328C>G	gnomAD
DLX5	P56178	p.Ser100Phe	rs770097670	missense variant	-	NC_000007.14:g.97024325G>A	ExAC,gnomAD
DLX5	P56178	p.Tyr101His	rs1405406449	missense variant	-	NC_000007.14:g.97024323A>G	gnomAD
DLX5	P56178	p.His102Tyr	rs1214446522	missense variant	-	NC_000007.14:g.97024320G>A	TOPMed,gnomAD
DLX5	P56178	p.Tyr104Cys	rs781358596	missense variant	-	NC_000007.14:g.97024313T>C	ExAC,gnomAD
DLX5	P56178	p.Gly105Ser	rs267601653	missense variant	-	NC_000007.14:g.97024311C>T	gnomAD
DLX5	P56178	p.Ala107Thr	rs778952255	missense variant	-	NC_000007.14:g.97024305C>T	ExAC,gnomAD
DLX5	P56178	p.Ala107Ser	rs778952255	missense variant	-	NC_000007.14:g.97024305C>A	ExAC,gnomAD
DLX5	P56178	p.Tyr108Cys	rs371127948	missense variant	-	NC_000007.14:g.97024301T>C	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Arg110Cys	rs753621536	missense variant	-	NC_000007.14:g.97024296G>A	ExAC,gnomAD
DLX5	P56178	p.Arg110His	rs763909664	missense variant	-	NC_000007.14:g.97024295C>T	ExAC,gnomAD
DLX5	P56178	p.Val111Ala	rs755697591	missense variant	-	NC_000007.14:g.97024292A>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro112Arg	rs1201703397	missense variant	-	NC_000007.14:g.97024289G>C	gnomAD
DLX5	P56178	p.Pro112Ala	rs1329819450	missense variant	-	NC_000007.14:g.97024290G>C	TOPMed
DLX5	P56178	p.Ser113Gly	rs201841970	missense variant	-	NC_000007.14:g.97024287T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Asn116Ser	rs766857960	missense variant	-	NC_000007.14:g.97024277T>C	ExAC,gnomAD
DLX5	P56178	p.Asn116His	rs1314884805	missense variant	-	NC_000007.14:g.97024278T>G	gnomAD
DLX5	P56178	p.Glu119Lys	rs773641315	missense variant	-	NC_000007.14:g.97024269C>T	ExAC,gnomAD
DLX5	P56178	p.Glu119Gln	rs773641315	missense variant	-	NC_000007.14:g.97024269C>G	ExAC,gnomAD
DLX5	P56178	p.Lys120Asn	rs752314719	missense variant	-	NC_000007.14:g.97022365T>G	ExAC,gnomAD
DLX5	P56178	p.Val122Met	rs201233212	missense variant	-	NC_000007.14:g.97022361C>T	1000Genomes,ExAC,gnomAD
DLX5	P56178	p.Val122Leu	rs201233212	missense variant	-	NC_000007.14:g.97022361C>G	1000Genomes,ExAC,gnomAD
DLX5	P56178	p.Glu124Gly	rs372558150	missense variant	-	NC_000007.14:g.97022354T>C	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Glu124Lys	rs1373151196	missense variant	-	NC_000007.14:g.97022355C>T	gnomAD
DLX5	P56178	p.Pro125Leu	rs765808270	missense variant	-	NC_000007.14:g.97022351G>A	ExAC,gnomAD
DLX5	P56178	p.Pro125Ala	rs751038558	missense variant	-	NC_000007.14:g.97022352G>C	ExAC,gnomAD
DLX5	P56178	p.Val127Met	rs1490255348	missense variant	-	NC_000007.14:g.97022346C>T	gnomAD
DLX5	P56178	p.Arg128Ser	rs1207525482	missense variant	-	NC_000007.14:g.97022341T>A	gnomAD
DLX5	P56178	p.Gly132Ser	rs185529928	missense variant	-	NC_000007.14:g.97022331C>T	1000Genomes,ExAC,gnomAD
DLX5	P56178	p.Pro134Ala	rs765696769	missense variant	-	NC_000007.14:g.97022325G>C	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Arg138Gly	rs1302438635	missense variant	-	NC_000007.14:g.97022313G>C	gnomAD
DLX5	P56178	p.Tyr144Phe	rs1364069713	missense variant	-	NC_000007.14:g.97022294T>A	gnomAD
DLX5	P56178	p.Ser145Cys	rs1431242250	missense variant	-	NC_000007.14:g.97022291G>C	gnomAD
DLX5	P56178	p.Ser145Thr	rs1300979300	missense variant	-	NC_000007.14:g.97022292A>T	gnomAD
DLX5	P56178	p.Leu149Arg	rs999619472	missense variant	-	NC_000007.14:g.97022279A>C	TOPMed
DLX5	P56178	p.Ala150Val	rs1474403800	missense variant	-	NC_000007.14:g.97022276G>A	gnomAD
DLX5	P56178	p.Ala150Ser	rs1166739375	missense variant	-	NC_000007.14:g.97022277C>A	gnomAD
DLX5	P56178	p.Ala151Ser	rs867714415	missense variant	-	NC_000007.14:g.97022274C>A	gnomAD
DLX5	P56178	p.Ala151Thr	rs867714415	missense variant	-	NC_000007.14:g.97022274C>T	gnomAD
DLX5	P56178	p.Leu152Phe	rs369530818	missense variant	-	NC_000007.14:g.97022269T>A	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Gln153His	rs1172649256	missense variant	-	NC_000007.14:g.97022266C>G	TOPMed
DLX5	P56178	p.Lys158Asn	rs760840290	missense variant	-	NC_000007.14:g.97022251C>G	ExAC,gnomAD
DLX5	P56178	p.Thr159Ile	rs1438538117	missense variant	-	NC_000007.14:g.97022249G>A	TOPMed,gnomAD
DLX5	P56178	p.Pro165Leu	rs1347188617	missense variant	-	NC_000007.14:g.97022231G>A	gnomAD
DLX5	P56178	p.Glu166Lys	rs376488297	missense variant	-	NC_000007.14:g.97022229C>T	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Glu166Gln	rs376488297	missense variant	-	NC_000007.14:g.97022229C>G	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Glu169Lys	rs769554704	missense variant	-	NC_000007.14:g.97022220C>T	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Glu169Ala	rs747888005	missense variant	-	NC_000007.14:g.97022219T>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Glu169Ter	rs769554704	stop gained	-	NC_000007.14:g.97022220C>A	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ala172Val	rs754590576	missense variant	-	NC_000007.14:g.97022210G>A	ExAC,gnomAD
DLX5	P56178	p.Ser173Leu	rs779599860	missense variant	-	NC_000007.14:g.97022207G>A	ExAC
DLX5	P56178	p.Gln178Pro	RCV000022921	missense variant	Split-hand/foot malformation 1 with sensorineural hearing loss (SHFM1D)	NC_000007.14:g.97022192T>G	ClinVar
DLX5	P56178	p.Gln178Pro	rs387906737	missense variant	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D)	NC_000007.14:g.97022192T>G	UniProt,dbSNP
DLX5	P56178	p.Gln178Pro	VAR_067413	missense variant	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D)	NC_000007.14:g.97022192T>G	UniProt
DLX5	P56178	p.Gln178Pro	rs387906737	missense variant	Split-hand/foot malformation 1 with sensorineural hearing loss (shfm1d)	NC_000007.14:g.97022192T>G	-
DLX5	P56178	p.Thr179Ile	rs765898430	missense variant	-	NC_000007.14:g.97022189G>A	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Gln186His	RCV000144532	missense variant	Split-hand/foot malformation 1 (SHFM1)	NC_000007.14:g.97021048C>A	ClinVar
DLX5	P56178	p.Gln186His	RCV000077764	missense variant	-	NC_000007.14:g.97021048C>A	ClinVar
DLX5	P56178	p.Gln186His	rs398122527	missense variant	-	NC_000007.14:g.97021048C>A	-
DLX5	P56178	p.Lys194Gln	rs199567160	missense variant	-	NC_000007.14:g.97021026T>G	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Met196Arg	rs1224132623	missense variant	-	NC_000007.14:g.97021019A>C	TOPMed
DLX5	P56178	p.Asn198Tyr	rs745523370	missense variant	-	NC_000007.14:g.97021014T>A	ExAC,gnomAD
DLX5	P56178	p.Met201Ile	rs1257847065	missense variant	-	NC_000007.14:g.97021003C>A	TOPMed
DLX5	P56178	p.Pro202Leu	rs1356717816	missense variant	-	NC_000007.14:g.97021001G>A	gnomAD
DLX5	P56178	p.Pro203Leu	rs145966633	missense variant	-	NC_000007.14:g.97020998G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro203Ser	rs146762155	missense variant	-	NC_000007.14:g.97020999G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro203Ala	rs146762155	missense variant	-	NC_000007.14:g.97020999G>C	1000Genomes,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro203Arg	rs145966633	missense variant	-	NC_000007.14:g.97020998G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Glu204Lys	rs1406598149	missense variant	-	NC_000007.14:g.97020996C>T	gnomAD
DLX5	P56178	p.Glu204Gly	rs752961858	missense variant	-	NC_000007.14:g.97020995T>C	ExAC,gnomAD
DLX5	P56178	p.Glu204Asp	rs554250076	missense variant	-	NC_000007.14:g.97020994C>G	1000Genomes,ExAC,gnomAD
DLX5	P56178	p.Glu204Ala	rs752961858	missense variant	-	NC_000007.14:g.97020995T>G	ExAC,gnomAD
DLX5	P56178	p.Ser209Phe	rs751835694	missense variant	-	NC_000007.14:g.97020980G>A	ExAC,gnomAD
DLX5	P56178	p.Asp211Asn	rs867858414	missense variant	-	NC_000007.14:g.97020975C>T	TOPMed,gnomAD
DLX5	P56178	p.Asp211Tyr	rs867858414	missense variant	-	NC_000007.14:g.97020975C>A	TOPMed,gnomAD
DLX5	P56178	p.Met213Lys	rs1207061831	missense variant	-	NC_000007.14:g.97020968A>T	TOPMed
DLX5	P56178	p.Met213Val	rs1418047352	missense variant	-	NC_000007.14:g.97020969T>C	gnomAD
DLX5	P56178	p.Trp224Arg	rs753795231	missense variant	-	NC_000007.14:g.97020936A>T	ExAC,gnomAD
DLX5	P56178	p.Pro226Ser	rs1252587922	missense variant	-	NC_000007.14:g.97020930G>A	TOPMed,gnomAD
DLX5	P56178	p.Pro226Ala	rs1252587922	missense variant	-	NC_000007.14:g.97020930G>C	TOPMed,gnomAD
DLX5	P56178	p.Ser229Pro	rs760699921	missense variant	-	NC_000007.14:g.97020921A>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ser229Leu	rs1270845196	missense variant	-	NC_000007.14:g.97020920G>A	gnomAD
DLX5	P56178	p.Arg231His	rs142492086	missense variant	-	NC_000007.14:g.97020914C>T	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Arg231Leu	rs142492086	missense variant	-	NC_000007.14:g.97020914C>A	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ser232Leu	rs867328272	missense variant	-	NC_000007.14:g.97020911G>A	gnomAD
DLX5	P56178	p.Ser232Ter	rs867328272	stop gained	-	NC_000007.14:g.97020911G>T	gnomAD
DLX5	P56178	p.Ser234Arg	rs35273378	missense variant	-	NC_000007.14:g.97020904G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ser234Arg	rs35273378	missense variant	-	NC_000007.14:g.97020904G>T	UniProt,dbSNP
DLX5	P56178	p.Ser234Arg	VAR_033874	missense variant	-	NC_000007.14:g.97020904G>T	UniProt
DLX5	P56178	p.Ser234Asn	rs1370130757	missense variant	-	NC_000007.14:g.97020905C>T	TOPMed
DLX5	P56178	p.Ser234Arg	rs35273378	missense variant	-	NC_000007.14:g.97020904G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.His236Tyr	rs1461577184	missense variant	-	NC_000007.14:g.97020900G>A	gnomAD
DLX5	P56178	p.His236Gln	rs143457052	missense variant	-	NC_000007.14:g.97020898G>T	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.His238Asn	rs148894146	missense variant	-	NC_000007.14:g.97020894G>T	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.His238Leu	rs758672181	missense variant	-	NC_000007.14:g.97020893T>A	ExAC,gnomAD
DLX5	P56178	p.His238Pro	rs758672181	missense variant	-	NC_000007.14:g.97020893T>G	ExAC,gnomAD
DLX5	P56178	p.Ala239Gly	rs200799043	missense variant	-	NC_000007.14:g.97020890G>C	1000Genomes,ExAC,gnomAD
DLX5	P56178	p.Ala239Val	rs200799043	missense variant	-	NC_000007.14:g.97020890G>A	1000Genomes,ExAC,gnomAD
DLX5	P56178	p.His240Tyr	rs201666211	missense variant	-	NC_000007.14:g.97020888G>A	1000Genomes,ExAC,gnomAD
DLX5	P56178	p.Pro241Ser	rs1342821834	missense variant	-	NC_000007.14:g.97020885G>A	TOPMed
DLX5	P56178	p.Thr243Ser	rs760475226	missense variant	-	NC_000007.14:g.97020878G>C	ExAC,gnomAD
DLX5	P56178	p.Ser244Cys	rs1480065692	missense variant	-	NC_000007.14:g.97020875G>C	gnomAD
DLX5	P56178	p.Gln246Arg	rs759444253	missense variant	-	NC_000007.14:g.97020869T>C	ExAC,gnomAD
DLX5	P56178	p.Pro248Arg	rs770665967	missense variant	-	NC_000007.14:g.97020863G>C	ExAC,gnomAD
DLX5	P56178	p.Pro248Leu	rs770665967	missense variant	-	NC_000007.14:g.97020863G>A	ExAC,gnomAD
DLX5	P56178	p.Ala249Val	rs762671104	missense variant	-	NC_000007.14:g.97020860G>A	ExAC,gnomAD
DLX5	P56178	p.Ser251Asn	rs376879283	missense variant	-	NC_000007.14:g.97020854C>T	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Tyr252His	rs747295818	missense variant	-	NC_000007.14:g.97020852A>G	TOPMed,gnomAD
DLX5	P56178	p.Glu254Asp	rs768983389	missense variant	-	NC_000007.14:g.97020844C>G	ExAC,gnomAD
DLX5	P56178	p.Glu254Gln	rs199725569	missense variant	-	NC_000007.14:g.97020846C>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Asn255Ser	rs369140826	missense variant	-	NC_000007.14:g.97020842T>C	ESP,TOPMed
DLX5	P56178	p.Trp259Cys	rs1405931883	missense variant	-	NC_000007.14:g.97020829C>A	gnomAD
DLX5	P56178	p.Thr261Ala	rs1374073922	missense variant	-	NC_000007.14:g.97020825T>C	TOPMed
DLX5	P56178	p.Ser262Arg	rs760947489	missense variant	-	NC_000007.14:g.97020822T>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ser262Arg	rs780431973	missense variant	-	NC_000007.14:g.97020820A>T	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ala263Val	rs1389940522	missense variant	-	NC_000007.14:g.97020818G>A	TOPMed
DLX5	P56178	p.Ala264Ser	rs758485182	missense variant	-	NC_000007.14:g.97020816C>A	ExAC,gnomAD
DLX5	P56178	p.Ser266Pro	rs1159460574	missense variant	-	NC_000007.14:g.97020810A>G	gnomAD
DLX5	P56178	p.Ser266Ter	rs1418095385	stop gained	-	NC_000007.14:g.97020809G>C	gnomAD
DLX5	P56178	p.Ile267Val	rs750674456	missense variant	-	NC_000007.14:g.97020807T>C	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Asn268Ser	rs778847173	missense variant	-	NC_000007.14:g.97020803T>C	ExAC,TOPMed,gnomAD
DLX5	P56178	p.His270Tyr	rs532759180	missense variant	-	NC_000007.14:g.97020798G>A	1000Genomes,ExAC,gnomAD
DLX5	P56178	p.His270Arg	rs752650484	missense variant	-	NC_000007.14:g.97020797T>C	ExAC,TOPMed,gnomAD
DLX5	P56178	p.His270Pro	rs752650484	missense variant	-	NC_000007.14:g.97020797T>G	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro272Leu	rs563982917	missense variant	-	NC_000007.14:g.97020791G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro274Leu	rs751332130	missense variant	-	NC_000007.14:g.97020785G>A	ExAC,gnomAD
DLX5	P56178	p.Pro274Ala	rs199678276	missense variant	-	NC_000007.14:g.97020786G>C	1000Genomes,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Gly275Val	rs762498461	missense variant	-	NC_000007.14:g.97020782C>A	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Gly275Asp	rs762498461	missense variant	-	NC_000007.14:g.97020782C>T	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ser276Cys	rs761431045	missense variant	-	NC_000007.14:g.97020779G>C	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Ser276Phe	rs761431045	missense variant	-	NC_000007.14:g.97020779G>A	ExAC,TOPMed,gnomAD
DLX5	P56178	p.Leu277Ser	rs887777137	missense variant	-	NC_000007.14:g.97020776A>G	TOPMed,gnomAD
DLX5	P56178	p.Gln278Glu	rs1288589440	missense variant	-	NC_000007.14:g.97020774G>C	gnomAD
DLX5	P56178	p.His279Tyr	rs138650319	missense variant	-	NC_000007.14:g.97020771G>A	ESP,ExAC,TOPMed,gnomAD
DLX5	P56178	p.Pro280Leu	rs929373566	missense variant	-	NC_000007.14:g.97020767G>A	TOPMed,gnomAD
DLX5	P56178	p.Pro280Arg	rs929373566	missense variant	-	NC_000007.14:g.97020767G>C	TOPMed,gnomAD
DLX5	P56178	p.Leu283Val	rs747524363	missense variant	-	NC_000007.14:g.97020759G>C	ExAC,gnomAD
DLX5	P56178	p.Gly286Glu	rs1430165038	missense variant	-	NC_000007.14:g.97020749C>T	gnomAD
DLX5	P56178	p.Gly286Arg	rs1187192866	missense variant	-	NC_000007.14:g.97020750C>G	TOPMed
DLX5	P56178	p.Thr287Arg	rs772549093	missense variant	-	NC_000007.14:g.97020746G>C	ExAC,gnomAD
DLX5	P56178	p.Thr287Ser	rs775776434	missense variant	-	NC_000007.14:g.97020747T>A	ExAC,gnomAD
DLX5	P56178	p.Leu288Phe	rs547131001	missense variant	-	NC_000007.14:g.97020744G>A	ExAC,gnomAD
DLX5	P56178	p.Leu288His	rs1294274714	missense variant	-	NC_000007.14:g.97020743A>T	gnomAD
WNT3	P56703	p.His4Tyr	rs1308722818	missense variant	-	NC_000017.11:g.46818588G>A	gnomAD
WNT3	P56703	p.Leu5Met	rs140453711	missense variant	-	NC_000017.11:g.46818585G>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Leu6Phe	rs896697492	missense variant	-	NC_000017.11:g.46818582G>A	gnomAD
WNT3	P56703	p.Gly7Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46818578C>A	NCI-TCGA
WNT3	P56703	p.Leu8Gln	rs201405122	missense variant	-	NC_000017.11:g.46818575A>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Leu9Phe	rs368670499	missense variant	-	NC_000017.11:g.46818573G>A	ESP,ExAC,gnomAD
WNT3	P56703	p.Gly11Cys	rs1483817376	missense variant	-	NC_000017.11:g.46818567C>A	TOPMed,gnomAD
WNT3	P56703	p.Gly11Asp	rs1443853881	missense variant	-	NC_000017.11:g.46818566C>T	gnomAD
WNT3	P56703	p.Leu14Phe	rs1353647597	missense variant	-	NC_000017.11:g.46818558G>A	TOPMed
WNT3	P56703	p.Gly15Ser	rs373944077	missense variant	-	NC_000017.11:g.46818555C>T	ESP,TOPMed,gnomAD
WNT3	P56703	p.Gly15Asp	rs1411800344	missense variant	-	NC_000017.11:g.46818554C>T	gnomAD
WNT3	P56703	p.Gly16Asp	rs1302729316	missense variant	-	NC_000017.11:g.46818551C>T	TOPMed,gnomAD
WNT3	P56703	p.Gly16Ser	rs898700816	missense variant	-	NC_000017.11:g.46818552C>T	gnomAD
WNT3	P56703	p.Gly16Val	rs1302729316	missense variant	-	NC_000017.11:g.46818551C>A	TOPMed,gnomAD
WNT3	P56703	p.Thr17Ser	rs886044337	missense variant	-	NC_000017.11:g.46818548G>C	-
WNT3	P56703	p.Thr17Ser	RCV000367585	missense variant	-	NC_000017.11:g.46818548G>C	ClinVar
WNT3	P56703	p.Arg18Ser	rs781416274	missense variant	-	NC_000017.11:g.46818544C>G	ExAC,gnomAD
WNT3	P56703	p.Val19Leu	rs1400620052	missense variant	-	NC_000017.11:g.46818543C>G	gnomAD
WNT3	P56703	p.Val19Gly	rs1413404583	missense variant	-	NC_000017.11:g.46818542A>C	gnomAD
WNT3	P56703	p.Gly22Ser	rs747436207	missense variant	-	NC_000017.11:g.46818534C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Pro24Ser	rs1488607151	missense variant	-	NC_000017.11:g.46818528G>A	gnomAD
WNT3	P56703	p.Ile25Val	rs778078174	missense variant	-	NC_000017.11:g.46818525T>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ile25Met	rs1327582900	missense variant	-	NC_000017.11:g.46818523A>C	gnomAD
WNT3	P56703	p.Trp26Leu	rs1213455330	missense variant	-	NC_000017.11:g.46818521C>A	gnomAD
WNT3	P56703	p.Leu31Val	COSM706056	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773899G>C	NCI-TCGA Cosmic
WNT3	P56703	p.Gly32Asp	COSM980341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773895C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Gly32Ser	rs370016891	missense variant	-	NC_000017.11:g.46773896C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gln34Ter	rs1300279028	stop gained	-	NC_000017.11:g.46773890G>A	gnomAD
WNT3	P56703	p.Tyr35His	rs939897615	missense variant	-	NC_000017.11:g.46773887A>G	TOPMed
WNT3	P56703	p.Thr36Ile	rs771221427	missense variant	-	NC_000017.11:g.46773883G>A	ExAC,gnomAD
WNT3	P56703	p.Ser37Tyr	rs939134415	missense variant	-	NC_000017.11:g.46773880G>T	TOPMed,gnomAD
WNT3	P56703	p.Gly39Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46773875C>A	NCI-TCGA
WNT3	P56703	p.Gly39Asp	rs747207186	missense variant	-	NC_000017.11:g.46773874C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ser40Leu	rs1466142390	missense variant	-	NC_000017.11:g.46773871G>A	gnomAD
WNT3	P56703	p.Leu43Pro	rs1224474746	missense variant	-	NC_000017.11:g.46773862A>G	TOPMed
WNT3	P56703	p.Gly46Ser	rs376610330	missense variant	-	NC_000017.11:g.46773854C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Pro49Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46773845G>A	NCI-TCGA
WNT3	P56703	p.Pro53Leu	rs755426927	missense variant	-	NC_000017.11:g.46773832G>A	ExAC,gnomAD
WNT3	P56703	p.Lys54Gln	rs745450126	missense variant	-	NC_000017.11:g.46773830T>G	ExAC,gnomAD
WNT3	P56703	p.Lys54Arg	rs1285314376	missense variant	-	NC_000017.11:g.46773829T>C	gnomAD
WNT3	P56703	p.Arg57Pro	rs757020950	missense variant	-	NC_000017.11:g.46773820C>G	ExAC,gnomAD
WNT3	P56703	p.Arg57His	COSM4067189	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773820C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Phe58Leu	rs1277199971	missense variant	-	NC_000017.11:g.46773818A>G	gnomAD
WNT3	P56703	p.Arg60His	rs758209963	missense variant	-	NC_000017.11:g.46773811C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg60Cys	rs766987789	missense variant	-	NC_000017.11:g.46773812G>A	ExAC,gnomAD
WNT3	P56703	p.Asn61Asp	COSM3402953	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773809T>C	NCI-TCGA Cosmic
WNT3	P56703	p.Ile63Val	rs1314013087	missense variant	-	NC_000017.11:g.46773803T>C	gnomAD
WNT3	P56703	p.Met66Ile	COSM3819797	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773792C>A	NCI-TCGA Cosmic
WNT3	P56703	p.Met66Ile	COSM1270501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773792C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Ala70Val	COSM3889780	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773781G>A	NCI-TCGA Cosmic
WNT3	P56703	p.Glu71Lys	rs765281954	missense variant	-	NC_000017.11:g.46773779C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ile77Val	rs759357140	missense variant	-	NC_000017.11:g.46773761T>C	ExAC,gnomAD
WNT3	P56703	p.Cys80Gly	rs1248506791	missense variant	-	NC_000017.11:g.46773752A>C	gnomAD
WNT3	P56703	p.Gln83Ter	rs104894653	stop gained	-	NC_000017.11:g.46773743G>A	-
WNT3	P56703	p.Gln83Ter	RCV000014823	nonsense	Tetraamelia, autosomal recessive (TETAMS1)	NC_000017.11:g.46773743G>A	ClinVar
WNT3	P56703	p.Arg85Gln	rs1483494147	missense variant	-	NC_000017.11:g.46773736C>T	TOPMed,gnomAD
WNT3	P56703	p.Arg85Trp	rs776819489	missense variant	-	NC_000017.11:g.46773737G>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gly86Ala	rs766394226	missense variant	-	NC_000017.11:g.46773733C>G	ExAC,gnomAD
WNT3	P56703	p.Gly86Val	rs766394226	missense variant	-	NC_000017.11:g.46773733C>A	ExAC,gnomAD
WNT3	P56703	p.Arg87His	rs772443949	missense variant	-	NC_000017.11:g.46773730C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg87Cys	rs773358698	missense variant	-	NC_000017.11:g.46773731G>A	ExAC,gnomAD
WNT3	P56703	p.Cys91Arg	RCV000172899	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000017.11:g.46773719A>G	ClinVar
WNT3	P56703	p.Cys91Arg	rs786205887	missense variant	-	NC_000017.11:g.46773719A>G	-
WNT3	P56703	p.Ile94Thr	rs1315719628	missense variant	-	NC_000017.11:g.46773709A>G	TOPMed,gnomAD
WNT3	P56703	p.Ile94Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46773710T>A	NCI-TCGA
WNT3	P56703	p.Asp96His	rs1452765136	missense variant	-	NC_000017.11:g.46773704C>G	gnomAD
WNT3	P56703	p.Asp96Asn	COSM3518413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46773704C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Leu98Gln	rs774576666	missense variant	-	NC_000017.11:g.46773697A>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Val104Ile	rs780778750	missense variant	-	NC_000017.11:g.46773680C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp106Asn	rs746671229	missense variant	-	NC_000017.11:g.46773674C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp106Tyr	rs746671229	missense variant	-	NC_000017.11:g.46773674C>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Glu111Lys	rs1362697335	missense variant	-	NC_000017.11:g.46770040C>T	gnomAD
WNT3	P56703	p.Ala113Ser	rs1435705558	missense variant	-	NC_000017.11:g.46770034C>A	gnomAD
WNT3	P56703	p.His116ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.46770023_46770024GT>-	NCI-TCGA
WNT3	P56703	p.Ile118Val	rs1428067168	missense variant	-	NC_000017.11:g.46770019T>C	gnomAD
WNT3	P56703	p.Gly122Ala	rs756045478	missense variant	-	NC_000017.11:g.46770006C>G	ExAC,gnomAD
WNT3	P56703	p.Gly122Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46770006C>T	NCI-TCGA
WNT3	P56703	p.Phe125Tyr	rs1441287140	missense variant	-	NC_000017.11:g.46769997A>T	TOPMed,gnomAD
WNT3	P56703	p.Ala126Thr	rs751693839	missense variant	-	NC_000017.11:g.46769995C>T	ExAC,gnomAD
WNT3	P56703	p.Ala126Val	rs1339718933	missense variant	-	NC_000017.11:g.46769994G>A	gnomAD
WNT3	P56703	p.Thr128Ile	rs1228917258	missense variant	-	NC_000017.11:g.46769988G>A	gnomAD
WNT3	P56703	p.Ser130Phe	rs954922524	missense variant	-	NC_000017.11:g.46769982G>A	TOPMed,gnomAD
WNT3	P56703	p.Cys131Tyr	rs1341068511	missense variant	-	NC_000017.11:g.46769979C>T	gnomAD
WNT3	P56703	p.Ala132Ser	rs765884429	missense variant	-	NC_000017.11:g.46769977C>A	ExAC,gnomAD
WNT3	P56703	p.Ala132Thr	rs765884429	missense variant	-	NC_000017.11:g.46769977C>T	ExAC,gnomAD
WNT3	P56703	p.Gly134Asp	rs760094608	missense variant	-	NC_000017.11:g.46769970C>T	ExAC,gnomAD
WNT3	P56703	p.Thr135Ala	rs771441245	missense variant	-	NC_000017.11:g.46769968T>C	ExAC,gnomAD
WNT3	P56703	p.Thr137Pro	rs1163127102	missense variant	-	NC_000017.11:g.46769962T>G	gnomAD
WNT3	P56703	p.Ile138Thr	rs1473415899	missense variant	-	NC_000017.11:g.46769958A>G	TOPMed,gnomAD
WNT3	P56703	p.Gly140Ala	rs1237548572	missense variant	-	NC_000017.11:g.46769952C>G	gnomAD
WNT3	P56703	p.Gly140Ser	rs1232484872	missense variant	-	NC_000017.11:g.46769953C>T	TOPMed
WNT3	P56703	p.Asp142Glu	rs1189503846	missense variant	-	NC_000017.11:g.46769945G>C	gnomAD
WNT3	P56703	p.Ser143Leu	rs374646467	missense variant	-	NC_000017.11:g.46769943G>A	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.His144Pro	rs768344495	missense variant	-	NC_000017.11:g.46769940T>G	ExAC,gnomAD
WNT3	P56703	p.His145Tyr	rs1343963521	missense variant	-	NC_000017.11:g.46769938G>A	gnomAD
WNT3	P56703	p.Lys146Glu	rs749108256	missense variant	-	NC_000017.11:g.46769935T>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Lys146Asn	rs779793771	missense variant	-	NC_000017.11:g.46769933C>A	ExAC
WNT3	P56703	p.Glu151Lys	rs1286011024	missense variant	-	NC_000017.11:g.46769920C>T	gnomAD
WNT3	P56703	p.Glu151Asp	rs781282951	missense variant	-	NC_000017.11:g.46769918T>A	ExAC,gnomAD
WNT3	P56703	p.Trp153Cys	rs1452528986	missense variant	-	NC_000017.11:g.46769912C>A	TOPMed
WNT3	P56703	p.Cys158Gly	rs1349987904	missense variant	-	NC_000017.11:g.46769899A>C	gnomAD
WNT3	P56703	p.Cys158Tyr	rs1395471029	missense variant	-	NC_000017.11:g.46769898C>T	TOPMed
WNT3	P56703	p.Glu160Lys	rs757224064	missense variant	-	NC_000017.11:g.46769893C>T	ExAC,gnomAD
WNT3	P56703	p.Asp161Tyr	rs1408996739	missense variant	-	NC_000017.11:g.46769890C>A	TOPMed
WNT3	P56703	p.Ala162Val	COSM4067187	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769886G>A	NCI-TCGA Cosmic
WNT3	P56703	p.Asp163Asn	rs985420838	missense variant	-	NC_000017.11:g.46769884C>T	gnomAD
WNT3	P56703	p.Asp163Glu	rs751644315	missense variant	-	NC_000017.11:g.46769882G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp163Tyr	rs985420838	missense variant	-	NC_000017.11:g.46769884C>A	gnomAD
WNT3	P56703	p.Val168Leu	rs143350900	missense variant	-	NC_000017.11:g.46769869C>A	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Glu171Lys	COSM3518412	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769860C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Ala173Val	rs139902701	missense variant	-	NC_000017.11:g.46769853G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg176His	COSM4741407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769844C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Glu177Lys	COSM1383862	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769842C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Asn178Tyr	rs1244749716	missense variant	-	NC_000017.11:g.46769839T>A	gnomAD
WNT3	P56703	p.Asn178Lys	rs773911958	missense variant	-	NC_000017.11:g.46769837G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asn178Lys	rs773911958	missense variant	-	NC_000017.11:g.46769837G>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Pro180Leu	rs1346223556	missense variant	-	NC_000017.11:g.46769832G>A	TOPMed
WNT3	P56703	p.Asp181His	rs1271201049	missense variant	-	NC_000017.11:g.46769830C>G	TOPMed
WNT3	P56703	p.Ala182Val	COSM5473901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46769826G>A	NCI-TCGA Cosmic
WNT3	P56703	p.Arg183His	rs146457750	missense variant	-	NC_000017.11:g.46769823C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ser184Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46769820G>A	NCI-TCGA
WNT3	P56703	p.Met186Thr	rs1289072372	missense variant	-	NC_000017.11:g.46769814A>G	gnomAD
WNT3	P56703	p.Asn190Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46769802T>C	NCI-TCGA
WNT3	P56703	p.Glu192Lys	rs949357754	missense variant	-	NC_000017.11:g.46769797C>T	TOPMed
WNT3	P56703	p.Glu192Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46769797C>G	NCI-TCGA
WNT3	P56703	p.Gly194Arg	rs747097936	missense variant	-	NC_000017.11:g.46769791C>G	ExAC,gnomAD
WNT3	P56703	p.Arg195His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46769787C>T	NCI-TCGA
WNT3	P56703	p.Ile198Leu	rs772208937	missense variant	-	NC_000017.11:g.46768796T>G	ExAC,gnomAD
WNT3	P56703	p.Ile198Val	rs772208937	missense variant	-	NC_000017.11:g.46768796T>C	ExAC,gnomAD
WNT3	P56703	p.Leu204Phe	rs1166453534	missense variant	-	NC_000017.11:g.46768778G>A	gnomAD
WNT3	P56703	p.Gly210Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768760C>T	NCI-TCGA
WNT3	P56703	p.Gly210Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768760C>A	NCI-TCGA
WNT3	P56703	p.Gly213Asp	rs786205889	missense variant	-	NC_000017.11:g.46768750C>T	-
WNT3	P56703	p.Gly213Asp	RCV000172906	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000017.11:g.46768750C>T	ClinVar
WNT3	P56703	p.Gly213Ser	rs1255537902	missense variant	-	NC_000017.11:g.46768751C>T	gnomAD
WNT3	P56703	p.Glu216Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768742C>G	NCI-TCGA
WNT3	P56703	p.Val217Ala	rs1244561458	missense variant	-	NC_000017.11:g.46768738A>G	gnomAD
WNT3	P56703	p.Val217Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768739C>G	NCI-TCGA
WNT3	P56703	p.Thr219Ser	rs1486757249	missense variant	-	NC_000017.11:g.46768733T>A	gnomAD
WNT3	P56703	p.Trp222Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.46768723C>T	NCI-TCGA
WNT3	P56703	p.Ala223Val	rs754298042	missense variant	-	NC_000017.11:g.46768720G>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ala223Val	rs754298042	missense variant	-	NC_000017.11:g.46768720G>A	NCI-TCGA,NCI-TCGA Cosmic
WNT3	P56703	p.Asp226His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768712C>G	NCI-TCGA
WNT3	P56703	p.Arg228Cys	rs1253456656	missense variant	-	NC_000017.11:g.46768706G>A	gnomAD
WNT3	P56703	p.Arg228His	rs780448017	missense variant	-	NC_000017.11:g.46768705C>T	NCI-TCGA,NCI-TCGA Cosmic
WNT3	P56703	p.Arg228His	rs780448017	missense variant	-	NC_000017.11:g.46768705C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ala229Thr	rs1297668559	missense variant	-	NC_000017.11:g.46768703C>T	gnomAD
WNT3	P56703	p.Ile230Val	rs375210034	missense variant	-	NC_000017.11:g.46768700T>C	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gly231Ser	rs1233413311	missense variant	-	NC_000017.11:g.46768697C>T	gnomAD
WNT3	P56703	p.Gly231Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768696C>T	NCI-TCGA
WNT3	P56703	p.Asp232Gly	rs763517587	missense variant	-	NC_000017.11:g.46768693T>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Lys235Asn	rs1408840375	missense variant	-	NC_000017.11:g.46768683C>G	gnomAD
WNT3	P56703	p.Ser240Arg	rs764908004	missense variant	-	NC_000017.11:g.46768668G>T	ExAC,gnomAD
WNT3	P56703	p.Ser240Thr	rs752197956	missense variant	-	NC_000017.11:g.46768669C>G	ExAC,gnomAD
WNT3	P56703	p.Ala241Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768666G>A	NCI-TCGA
WNT3	P56703	p.Ala241Thr	rs759165713	missense variant	-	NC_000017.11:g.46768667C>T	ExAC,gnomAD
WNT3	P56703	p.Ala241Thr	rs759165713	missense variant	-	NC_000017.11:g.46768667C>T	NCI-TCGA
WNT3	P56703	p.Ser242Trp	rs770718548	missense variant	-	NC_000017.11:g.46768663G>C	ExAC,gnomAD
WNT3	P56703	p.Glu243Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768659C>A	NCI-TCGA
WNT3	P56703	p.Arg250Leu	rs760532705	missense variant	-	NC_000017.11:g.46768639C>A	ExAC,gnomAD
WNT3	P56703	p.Arg250His	COSM1270502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768639C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Arg253Gln	rs1444493326	missense variant	-	NC_000017.11:g.46768630C>T	TOPMed
WNT3	P56703	p.Arg253Ter	rs1335027382	stop gained	-	NC_000017.11:g.46768631G>A	NCI-TCGA Cosmic
WNT3	P56703	p.Arg253Ter	rs1335027382	stop gained	-	NC_000017.11:g.46768631G>A	TOPMed
WNT3	P56703	p.Gly254Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768627C>A	NCI-TCGA
WNT3	P56703	p.Val256Met	rs773142859	missense variant	-	NC_000017.11:g.46768622C>T	ExAC,gnomAD
WNT3	P56703	p.Arg260Gln	rs1488424377	missense variant	-	NC_000017.11:g.46768609C>T	gnomAD
WNT3	P56703	p.Arg260Gly	rs1208483398	missense variant	-	NC_000017.11:g.46768610G>C	gnomAD
WNT3	P56703	p.Ala261Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768607C>G	NCI-TCGA
WNT3	P56703	p.Lys262Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768602C>A	NCI-TCGA
WNT3	P56703	p.Ser264Trp	rs1266510350	missense variant	-	NC_000017.11:g.46768597G>C	gnomAD
WNT3	P56703	p.Lys267Arg	rs886053073	missense variant	-	NC_000017.11:g.46768588T>C	gnomAD
WNT3	P56703	p.Lys267Arg	RCV000349916	missense variant	Tetraamelia, autosomal recessive (TETAMS1)	NC_000017.11:g.46768588T>C	ClinVar
WNT3	P56703	p.Thr270Met	rs1253932905	missense variant	-	NC_000017.11:g.46768579G>A	TOPMed
WNT3	P56703	p.Glu271Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768577C>T	NCI-TCGA
WNT3	P56703	p.Arg272Lys	rs1227379658	missense variant	-	NC_000017.11:g.46768573C>T	gnomAD
WNT3	P56703	p.Tyr276Asn	rs1384823983	missense variant	-	NC_000017.11:g.46768562A>T	gnomAD
WNT3	P56703	p.Pro281Ser	rs1389773314	missense variant	-	NC_000017.11:g.46768547G>A	gnomAD
WNT3	P56703	p.Glu285Lys	COSM980336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768535C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Glu289Val	rs749481789	missense variant	-	NC_000017.11:g.46768522T>A	ExAC,gnomAD
WNT3	P56703	p.Gly291Asp	rs780318283	missense variant	-	NC_000017.11:g.46768516C>T	ExAC,gnomAD
WNT3	P56703	p.Gly294Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768508C>T	NCI-TCGA
WNT3	P56703	p.Asp297Asn	COSM3518411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768499C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Arg298Gln	COSM4067185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768495C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Arg298Trp	COSM188343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768496G>A	NCI-TCGA Cosmic
WNT3	P56703	p.Thr299Ile	rs1240376838	missense variant	-	NC_000017.11:g.46768492G>A	TOPMed
WNT3	P56703	p.Asn301Ser	rs1043363244	missense variant	-	NC_000017.11:g.46768486T>C	TOPMed,gnomAD
WNT3	P56703	p.Ser304Phe	rs1376092571	missense variant	-	NC_000017.11:g.46768477G>A	TOPMed
WNT3	P56703	p.His305Pro	rs536348987	missense variant	-	NC_000017.11:g.46768474T>G	1000Genomes,ExAC,gnomAD
WNT3	P56703	p.His305Gln	rs200319318	missense variant	-	NC_000017.11:g.46768473G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.His305Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768475G>A	NCI-TCGA
WNT3	P56703	p.Gly306Ser	rs757727243	missense variant	-	NC_000017.11:g.46768472C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gly306Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768471C>T	NCI-TCGA
WNT3	P56703	p.Gly306Ser	rs757727243	missense variant	-	NC_000017.11:g.46768472C>T	NCI-TCGA
WNT3	P56703	p.Ile307Thr	rs1463977312	missense variant	-	NC_000017.11:g.46768468A>G	gnomAD
WNT3	P56703	p.Asp308His	rs754656610	missense variant	-	NC_000017.11:g.46768466C>G	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp308Asn	rs754656610	missense variant	-	NC_000017.11:g.46768466C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gly309Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768462C>T	NCI-TCGA
WNT3	P56703	p.Asp311Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768457C>T	NCI-TCGA
WNT3	P56703	p.Gly318Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768435C>T	NCI-TCGA
WNT3	P56703	p.His319Pro	rs760574450	missense variant	-	NC_000017.11:g.46768432T>G	ExAC,gnomAD
WNT3	P56703	p.His319Tyr	rs766100258	missense variant	-	NC_000017.11:g.46768433G>A	ExAC,gnomAD
WNT3	P56703	p.His319Arg	rs760574450	missense variant	-	NC_000017.11:g.46768432T>C	ExAC,gnomAD
WNT3	P56703	p.Thr321Met	rs1303969028	missense variant	-	NC_000017.11:g.46768426G>A	NCI-TCGA Cosmic
WNT3	P56703	p.Thr321Met	rs1303969028	missense variant	-	NC_000017.11:g.46768426G>A	TOPMed,gnomAD
WNT3	P56703	p.Arg322Gly	rs1363009249	missense variant	-	NC_000017.11:g.46768424T>C	gnomAD
WNT3	P56703	p.Thr323Met	rs1319940652	missense variant	-	NC_000017.11:g.46768420G>A	gnomAD
WNT3	P56703	p.Lys325Asn	rs761820418	missense variant	-	NC_000017.11:g.46768413C>A	ExAC,gnomAD
WNT3	P56703	p.Arg326Gly	rs774595709	missense variant	-	NC_000017.11:g.46768412G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg326Gln	rs768821285	missense variant	-	NC_000017.11:g.46768411C>T	ExAC,gnomAD
WNT3	P56703	p.Arg326Trp	rs774595709	missense variant	-	NC_000017.11:g.46768412G>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Lys329Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768402T>G	NCI-TCGA
WNT3	P56703	p.Cys330Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768399C>T	NCI-TCGA
WNT3	P56703	p.His331Tyr	rs141597258	missense variant	-	NC_000017.11:g.46768397G>A	ESP,ExAC
WNT3	P56703	p.Ile333Val	rs370821059	missense variant	-	NC_000017.11:g.46768391T>C	ESP,gnomAD
WNT3	P56703	p.Phe334Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.46768387A>T	NCI-TCGA
WNT3	P56703	p.Trp336Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.46768380C>T	NCI-TCGA
WNT3	P56703	p.Cys337Arg	COSM4067184	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768379A>G	NCI-TCGA Cosmic
WNT3	P56703	p.Cys338Tyr	rs1247905509	missense variant	-	NC_000017.11:g.46768375C>T	gnomAD
WNT3	P56703	p.Cys338Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.46768374G>T	NCI-TCGA
WNT3	P56703	p.Tyr339Asn	rs1233589568	missense variant	-	NC_000017.11:g.46768373A>T	TOPMed
WNT3	P56703	p.Val340Ile	rs1447018286	missense variant	-	NC_000017.11:g.46768370C>T	gnomAD
WNT3	P56703	p.Val340Ile	rs1447018286	missense variant	-	NC_000017.11:g.46768370C>T	NCI-TCGA Cosmic
WNT3	P56703	p.Cys342Phe	rs1197275644	missense variant	-	NC_000017.11:g.46768363C>A	TOPMed
WNT3	P56703	p.Glu344Gly	rs747471187	missense variant	-	NC_000017.11:g.46768357T>C	ExAC,gnomAD
WNT3	P56703	p.Ile346Met	rs1208822915	missense variant	-	NC_000017.11:g.46768350A>C	gnomAD
WNT3	P56703	p.Arg347His	rs778399124	missense variant	-	NC_000017.11:g.46768348C>T	ExAC,gnomAD
WNT3	P56703	p.Arg347Cys	COSM3518410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.46768349G>A	NCI-TCGA Cosmic
WNT3	P56703	p.Arg347His	rs778399124	missense variant	-	NC_000017.11:g.46768348C>T	NCI-TCGA
WNT3	P56703	p.Asp350Asn	rs147306984	missense variant	-	NC_000017.11:g.46768340C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Val351Met	rs1265723023	missense variant	-	NC_000017.11:g.46768337C>T	TOPMed
WNT3	P56703	p.His352Asn	rs766125270	missense variant	-	NC_000017.11:g.46768334G>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Thr353Asn	rs755692563	missense variant	-	NC_000017.11:g.46768330G>T	ExAC,gnomAD
WNT3	P56703	p.Ter356Gln	rs1376336260	stop lost	-	NC_000017.11:g.46768322A>G	gnomAD
WNT3	P56703	p.His4Tyr	rs1308722818	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113812G>A	gnomAD
WNT3	P56703	p.Leu5Met	rs140453711	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113809G>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Leu6Phe	rs896697492	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113806G>A	gnomAD
WNT3	P56703	p.Leu8Gln	rs201405122	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113799A>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Leu9Phe	rs368670499	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113797G>A	ESP,ExAC,gnomAD
WNT3	P56703	p.Gly11Cys	rs1483817376	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113791C>A	TOPMed,gnomAD
WNT3	P56703	p.Gly11Asp	rs1443853881	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113790C>T	gnomAD
WNT3	P56703	p.Leu14Phe	rs1353647597	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113782G>A	TOPMed
WNT3	P56703	p.Gly15Asp	rs1411800344	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113778C>T	gnomAD
WNT3	P56703	p.Gly15Ser	rs373944077	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113779C>T	ESP,TOPMed,gnomAD
WNT3	P56703	p.Gly16Asp	rs1302729316	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113775C>T	TOPMed,gnomAD
WNT3	P56703	p.Gly16Ser	rs898700816	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113776C>T	gnomAD
WNT3	P56703	p.Gly16Val	rs1302729316	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113775C>A	TOPMed,gnomAD
WNT3	P56703	p.Thr17Ser	RCV000367585	missense variant	-	NC_000017.11:g.46818548G>C	ClinVar
WNT3	P56703	p.Arg18Ser	rs781416274	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113768C>G	ExAC,gnomAD
WNT3	P56703	p.Val19Leu	rs1400620052	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113767C>G	gnomAD
WNT3	P56703	p.Val19Gly	rs1413404583	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113766A>C	gnomAD
WNT3	P56703	p.Gly22Ser	rs747436207	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113758C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Pro24Ser	rs1488607151	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113752G>A	gnomAD
WNT3	P56703	p.Ile25Val	rs778078174	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113749T>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ile25Met	rs1327582900	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113747A>C	gnomAD
WNT3	P56703	p.Trp26Leu	rs1213455330	missense variant	-	CHR_HSCHR17_1_CTG5:g.47113745C>A	gnomAD
WNT3	P56703	p.Gly32Ser	rs370016891	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069267C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gln34Ter	rs1300279028	stop gained	-	CHR_HSCHR17_1_CTG5:g.47069261G>A	gnomAD
WNT3	P56703	p.Tyr35His	rs939897615	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069258A>G	TOPMed
WNT3	P56703	p.Thr36Ile	rs771221427	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069254G>A	ExAC,gnomAD
WNT3	P56703	p.Ser37Tyr	rs939134415	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069251G>T	TOPMed,gnomAD
WNT3	P56703	p.Gly39Asp	rs747207186	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069245C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ser40Leu	rs1466142390	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069242G>A	gnomAD
WNT3	P56703	p.Leu43Pro	rs1224474746	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069233A>G	TOPMed
WNT3	P56703	p.Gly46Ser	rs376610330	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069225C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Pro53Leu	rs755426927	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069203G>A	ExAC,gnomAD
WNT3	P56703	p.Lys54Gln	rs745450126	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069201T>G	ExAC,gnomAD
WNT3	P56703	p.Lys54Arg	rs1285314376	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069200T>C	gnomAD
WNT3	P56703	p.Arg57Pro	rs757020950	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069191C>G	ExAC,gnomAD
WNT3	P56703	p.Phe58Leu	rs1277199971	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069189A>G	gnomAD
WNT3	P56703	p.Arg60His	rs758209963	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069182C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg60Cys	rs766987789	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069183G>A	ExAC,gnomAD
WNT3	P56703	p.Ile63Val	rs1314013087	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069174T>C	gnomAD
WNT3	P56703	p.Glu71Lys	rs765281954	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069150C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ile77Val	rs759357140	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069132T>C	ExAC,gnomAD
WNT3	P56703	p.Cys80Gly	rs1248506791	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069123A>C	gnomAD
WNT3	P56703	p.Gln83Ter	RCV000014823	nonsense	Tetraamelia, autosomal recessive (TETAMS1)	NC_000017.11:g.46773743G>A	ClinVar
WNT3	P56703	p.Arg85Trp	rs776819489	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069108G>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg85Gln	rs1483494147	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069107C>T	TOPMed,gnomAD
WNT3	P56703	p.Gly86Ala	rs766394226	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069104C>G	ExAC,gnomAD
WNT3	P56703	p.Gly86Val	rs766394226	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069104C>A	ExAC,gnomAD
WNT3	P56703	p.Arg87His	rs772443949	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069101C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg87Cys	rs773358698	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069102G>A	ExAC,gnomAD
WNT3	P56703	p.Cys91Arg	RCV000172899	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000017.11:g.46773719A>G	ClinVar
WNT3	P56703	p.Ile94Thr	rs1315719628	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069080A>G	TOPMed,gnomAD
WNT3	P56703	p.Asp96His	rs1452765136	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069075C>G	gnomAD
WNT3	P56703	p.Leu98Gln	rs774576666	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069068A>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Val104Ile	rs780778750	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069051C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp106Tyr	rs746671229	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069045C>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp106Asn	rs746671229	missense variant	-	CHR_HSCHR17_1_CTG5:g.47069045C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Glu111Lys	rs1362697335	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065416C>T	gnomAD
WNT3	P56703	p.Ala113Ser	rs1435705558	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065410C>A	gnomAD
WNT3	P56703	p.Ile118Val	rs1428067168	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065395T>C	gnomAD
WNT3	P56703	p.Gly122Ala	rs756045478	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065382C>G	ExAC,gnomAD
WNT3	P56703	p.Phe125Tyr	rs1441287140	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065373A>T	TOPMed,gnomAD
WNT3	P56703	p.Ala126Val	rs1339718933	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065370G>A	gnomAD
WNT3	P56703	p.Ala126Thr	rs751693839	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065371C>T	ExAC,gnomAD
WNT3	P56703	p.Thr128Ile	rs1228917258	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065364G>A	gnomAD
WNT3	P56703	p.Ser130Phe	rs954922524	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065358G>A	TOPMed,gnomAD
WNT3	P56703	p.Cys131Tyr	rs1341068511	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065355C>T	gnomAD
WNT3	P56703	p.Ala132Thr	rs765884429	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065353C>T	ExAC,gnomAD
WNT3	P56703	p.Ala132Ser	rs765884429	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065353C>A	ExAC,gnomAD
WNT3	P56703	p.Gly134Asp	rs760094608	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065346C>T	ExAC,gnomAD
WNT3	P56703	p.Thr135Ala	rs771441245	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065344T>C	ExAC,gnomAD
WNT3	P56703	p.Thr137Pro	rs1163127102	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065338T>G	gnomAD
WNT3	P56703	p.Ile138Thr	rs1473415899	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065334A>G	TOPMed,gnomAD
WNT3	P56703	p.Gly140Ser	rs1232484872	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065329C>T	TOPMed
WNT3	P56703	p.Gly140Ala	rs1237548572	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065328C>G	gnomAD
WNT3	P56703	p.Asp142Glu	rs1189503846	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065321G>C	gnomAD
WNT3	P56703	p.Ser143Leu	rs374646467	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065319G>A	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.His144Pro	rs768344495	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065316T>G	ExAC,gnomAD
WNT3	P56703	p.His145Tyr	rs1343963521	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065314G>A	gnomAD
WNT3	P56703	p.Lys146Glu	rs749108256	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065311T>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Lys146Asn	rs779793771	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065309C>A	ExAC
WNT3	P56703	p.Glu151Asp	rs781282951	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065294T>A	ExAC,gnomAD
WNT3	P56703	p.Glu151Lys	rs1286011024	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065296C>T	gnomAD
WNT3	P56703	p.Trp153Cys	rs1452528986	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065288C>A	TOPMed
WNT3	P56703	p.Cys158Gly	rs1349987904	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065275A>C	gnomAD
WNT3	P56703	p.Cys158Tyr	rs1395471029	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065274C>T	TOPMed
WNT3	P56703	p.Glu160Lys	rs757224064	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065269C>T	ExAC,gnomAD
WNT3	P56703	p.Asp161Tyr	rs1408996739	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065266C>A	TOPMed
WNT3	P56703	p.Asp163Asn	rs985420838	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065260C>T	gnomAD
WNT3	P56703	p.Asp163Tyr	rs985420838	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065260C>A	gnomAD
WNT3	P56703	p.Asp163Glu	rs751644315	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065258G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Val168Leu	rs143350900	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065245C>A	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ala173Val	rs139902701	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065229G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asn178Lys	rs773911958	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065213G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asn178Tyr	rs1244749716	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065215T>A	gnomAD
WNT3	P56703	p.Asn178Lys	rs773911958	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065213G>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Pro180Leu	rs1346223556	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065208G>A	TOPMed
WNT3	P56703	p.Asp181His	rs1271201049	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065206C>G	TOPMed
WNT3	P56703	p.Arg183His	rs146457750	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065199C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Met186Thr	rs1289072372	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065190A>G	gnomAD
WNT3	P56703	p.Glu192Lys	rs949357754	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065173C>T	TOPMed
WNT3	P56703	p.Gly194Arg	rs747097936	missense variant	-	CHR_HSCHR17_1_CTG5:g.47065167C>G	ExAC,gnomAD
WNT3	P56703	p.Ile198Leu	rs772208937	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064172T>G	ExAC,gnomAD
WNT3	P56703	p.Ile198Val	rs772208937	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064172T>C	ExAC,gnomAD
WNT3	P56703	p.Leu204Phe	rs1166453534	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064154G>A	gnomAD
WNT3	P56703	p.Gly213Ser	rs1255537902	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064127C>T	gnomAD
WNT3	P56703	p.Gly213Asp	RCV000172906	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000017.11:g.46768750C>T	ClinVar
WNT3	P56703	p.Val217Ala	rs1244561458	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064114A>G	gnomAD
WNT3	P56703	p.Thr219Ser	rs1486757249	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064109T>A	gnomAD
WNT3	P56703	p.Ala223Val	rs754298042	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064096G>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg228Cys	rs1253456656	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064082G>A	gnomAD
WNT3	P56703	p.Arg228His	rs780448017	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064081C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ala229Thr	rs1297668559	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064079C>T	gnomAD
WNT3	P56703	p.Ile230Val	rs375210034	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064076T>C	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gly231Ser	rs1233413311	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064073C>T	gnomAD
WNT3	P56703	p.Asp232Gly	rs763517587	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064069T>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Lys235Asn	rs1408840375	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064059C>G	gnomAD
WNT3	P56703	p.Ser240Arg	rs764908004	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064044G>T	ExAC,gnomAD
WNT3	P56703	p.Ser240Thr	rs752197956	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064045C>G	ExAC,gnomAD
WNT3	P56703	p.Ala241Thr	rs759165713	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064043C>T	ExAC,gnomAD
WNT3	P56703	p.Ser242Trp	rs770718548	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064039G>C	ExAC,gnomAD
WNT3	P56703	p.Arg250Leu	rs760532705	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064015C>A	ExAC,gnomAD
WNT3	P56703	p.Arg253Gln	rs1444493326	missense variant	-	CHR_HSCHR17_1_CTG5:g.47064006C>T	TOPMed
WNT3	P56703	p.Arg253Ter	rs1335027382	stop gained	-	CHR_HSCHR17_1_CTG5:g.47064007G>A	TOPMed
WNT3	P56703	p.Val256Met	rs773142859	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063998C>T	ExAC,gnomAD
WNT3	P56703	p.Arg260Gln	rs1488424377	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063985C>T	gnomAD
WNT3	P56703	p.Arg260Gly	rs1208483398	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063986G>C	gnomAD
WNT3	P56703	p.Ser264Trp	rs1266510350	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063973G>C	gnomAD
WNT3	P56703	p.Lys267Arg	rs886053073	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063964T>C	gnomAD
WNT3	P56703	p.Lys267Arg	RCV000349916	missense variant	Tetraamelia, autosomal recessive (TETAMS1)	NC_000017.11:g.46768588T>C	ClinVar
WNT3	P56703	p.Thr270Met	rs1253932905	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063955G>A	TOPMed
WNT3	P56703	p.Arg272Lys	rs1227379658	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063949C>T	gnomAD
WNT3	P56703	p.Tyr276Asn	rs1384823983	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063938A>T	gnomAD
WNT3	P56703	p.Pro281Ser	rs1389773314	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063923G>A	gnomAD
WNT3	P56703	p.Glu289Val	rs749481789	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063898T>A	ExAC,gnomAD
WNT3	P56703	p.Gly291Asp	rs780318283	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063892C>T	ExAC,gnomAD
WNT3	P56703	p.Thr299Ile	rs1240376838	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063868G>A	TOPMed
WNT3	P56703	p.Asn301Ser	rs1043363244	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063862T>C	TOPMed,gnomAD
WNT3	P56703	p.Ser304Phe	rs1376092571	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063853G>A	TOPMed
WNT3	P56703	p.His305Pro	rs536348987	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063850T>G	1000Genomes,ExAC,gnomAD
WNT3	P56703	p.His305Gln	rs200319318	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063849G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gly306Ser	rs757727243	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063848C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ile307Thr	rs1463977312	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063844A>G	gnomAD
WNT3	P56703	p.Asp308His	rs754656610	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063842C>G	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp308Asn	rs754656610	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063842C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.His319Arg	rs760574450	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063808T>C	ExAC,gnomAD
WNT3	P56703	p.His319Tyr	rs766100258	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063809G>A	ExAC,gnomAD
WNT3	P56703	p.His319Pro	rs760574450	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063808T>G	ExAC,gnomAD
WNT3	P56703	p.Thr321Met	rs1303969028	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063802G>A	TOPMed,gnomAD
WNT3	P56703	p.Arg322Gly	rs1363009249	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063800T>C	gnomAD
WNT3	P56703	p.Thr323Met	rs1319940652	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063796G>A	gnomAD
WNT3	P56703	p.Lys325Asn	rs761820418	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063789C>A	ExAC,gnomAD
WNT3	P56703	p.Arg326Trp	rs774595709	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063788G>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg326Gln	rs768821285	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063787C>T	ExAC,gnomAD
WNT3	P56703	p.Arg326Gly	rs774595709	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063788G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.His331Tyr	rs141597258	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063773G>A	ESP,ExAC
WNT3	P56703	p.Ile333Val	rs370821059	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063767T>C	ESP,gnomAD
WNT3	P56703	p.Cys338Tyr	rs1247905509	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063751C>T	gnomAD
WNT3	P56703	p.Tyr339Asn	rs1233589568	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063749A>T	TOPMed
WNT3	P56703	p.Val340Ile	rs1447018286	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063746C>T	gnomAD
WNT3	P56703	p.Cys342Phe	rs1197275644	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063739C>A	TOPMed
WNT3	P56703	p.Glu344Gly	rs747471187	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063733T>C	ExAC,gnomAD
WNT3	P56703	p.Ile346Met	rs1208822915	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063726A>C	gnomAD
WNT3	P56703	p.Arg347His	rs778399124	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063724C>T	ExAC,gnomAD
WNT3	P56703	p.Asp350Asn	rs147306984	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063716C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Val351Met	rs1265723023	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063713C>T	TOPMed
WNT3	P56703	p.His352Asn	rs766125270	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063710G>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Thr353Asn	rs755692563	missense variant	-	CHR_HSCHR17_1_CTG5:g.47063706G>T	ExAC,gnomAD
WNT3	P56703	p.Ter356Gln	rs1376336260	stop lost	-	CHR_HSCHR17_1_CTG5:g.47063698A>G	gnomAD
WNT3	P56703	p.His4Tyr	rs1308722818	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647525G>A	gnomAD
WNT3	P56703	p.Leu5Met	rs140453711	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647522G>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Leu6Phe	rs896697492	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647519G>A	gnomAD
WNT3	P56703	p.Leu8Gln	rs201405122	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647512A>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Leu9Phe	rs368670499	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647510G>A	ESP,ExAC,gnomAD
WNT3	P56703	p.Gly11Asp	rs1443853881	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647503C>T	gnomAD
WNT3	P56703	p.Gly11Cys	rs1483817376	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647504C>A	TOPMed,gnomAD
WNT3	P56703	p.Leu14Phe	rs1353647597	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647495G>A	TOPMed
WNT3	P56703	p.Gly15Ser	rs373944077	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647492C>T	ESP,TOPMed,gnomAD
WNT3	P56703	p.Gly15Asp	rs1411800344	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647491C>T	gnomAD
WNT3	P56703	p.Gly16Val	rs1302729316	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647488C>A	TOPMed,gnomAD
WNT3	P56703	p.Gly16Ser	rs898700816	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647489C>T	gnomAD
WNT3	P56703	p.Gly16Asp	rs1302729316	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647488C>T	TOPMed,gnomAD
WNT3	P56703	p.Thr17Ser	RCV000367585	missense variant	-	NC_000017.11:g.46818548G>C	ClinVar
WNT3	P56703	p.Arg18Ser	rs781416274	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647481C>G	ExAC,gnomAD
WNT3	P56703	p.Val19Gly	rs1413404583	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647479A>C	gnomAD
WNT3	P56703	p.Val19Leu	rs1400620052	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647480C>G	gnomAD
WNT3	P56703	p.Gly22Ser	rs747436207	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647471C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Pro24Ser	rs1488607151	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647465G>A	gnomAD
WNT3	P56703	p.Ile25Met	rs1327582900	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647460A>C	gnomAD
WNT3	P56703	p.Ile25Val	rs778078174	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647462T>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Trp26Leu	rs1213455330	missense variant	-	CHR_HSCHR17_2_CTG5:g.46647458C>A	gnomAD
WNT3	P56703	p.Gly32Ser	rs370016891	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602800C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gln34Ter	rs1300279028	stop gained	-	CHR_HSCHR17_2_CTG5:g.46602794G>A	gnomAD
WNT3	P56703	p.Tyr35His	rs939897615	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602791A>G	TOPMed
WNT3	P56703	p.Thr36Ile	rs771221427	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602787G>A	ExAC,gnomAD
WNT3	P56703	p.Ser37Tyr	rs939134415	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602784G>T	TOPMed,gnomAD
WNT3	P56703	p.Gly39Asp	rs747207186	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602778C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ser40Leu	rs1466142390	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602775G>A	gnomAD
WNT3	P56703	p.Leu43Pro	rs1224474746	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602766A>G	TOPMed
WNT3	P56703	p.Gly46Ser	rs376610330	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602758C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Pro53Leu	rs755426927	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602736G>A	ExAC,gnomAD
WNT3	P56703	p.Lys54Arg	rs1285314376	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602733T>C	gnomAD
WNT3	P56703	p.Lys54Gln	rs745450126	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602734T>G	ExAC,gnomAD
WNT3	P56703	p.Arg57Pro	rs757020950	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602724C>G	ExAC,gnomAD
WNT3	P56703	p.Phe58Leu	rs1277199971	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602722A>G	gnomAD
WNT3	P56703	p.Arg60Cys	rs766987789	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602716G>A	ExAC,gnomAD
WNT3	P56703	p.Arg60His	rs758209963	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602715C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ile63Val	rs1314013087	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602707T>C	gnomAD
WNT3	P56703	p.Glu71Lys	rs765281954	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602683C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ile77Val	rs759357140	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602665T>C	ExAC,gnomAD
WNT3	P56703	p.Cys80Gly	rs1248506791	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602656A>C	gnomAD
WNT3	P56703	p.Gln83Ter	RCV000014823	nonsense	Tetraamelia, autosomal recessive (TETAMS1)	NC_000017.11:g.46773743G>A	ClinVar
WNT3	P56703	p.Arg85Trp	rs776819489	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602641G>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg85Gln	rs1483494147	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602640C>T	TOPMed,gnomAD
WNT3	P56703	p.Gly86Val	rs766394226	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602637C>A	ExAC,gnomAD
WNT3	P56703	p.Gly86Ala	rs766394226	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602637C>G	ExAC,gnomAD
WNT3	P56703	p.Arg87Cys	rs773358698	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602635G>A	ExAC,gnomAD
WNT3	P56703	p.Arg87His	rs772443949	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602634C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Cys91Arg	RCV000172899	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000017.11:g.46773719A>G	ClinVar
WNT3	P56703	p.Ile94Thr	rs1315719628	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602613A>G	TOPMed,gnomAD
WNT3	P56703	p.Asp96His	rs1452765136	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602608C>G	gnomAD
WNT3	P56703	p.Leu98Gln	rs774576666	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602601A>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Val104Ile	rs780778750	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602584C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp106Asn	rs746671229	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602578C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp106Tyr	rs746671229	missense variant	-	CHR_HSCHR17_2_CTG5:g.46602578C>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Glu111Lys	rs1362697335	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598949C>T	gnomAD
WNT3	P56703	p.Ala113Ser	rs1435705558	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598943C>A	gnomAD
WNT3	P56703	p.Ile118Val	rs1428067168	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598928T>C	gnomAD
WNT3	P56703	p.Gly122Ala	rs756045478	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598915C>G	ExAC,gnomAD
WNT3	P56703	p.Phe125Tyr	rs1441287140	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598906A>T	TOPMed,gnomAD
WNT3	P56703	p.Ala126Thr	rs751693839	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598904C>T	ExAC,gnomAD
WNT3	P56703	p.Ala126Val	rs1339718933	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598903G>A	gnomAD
WNT3	P56703	p.Thr128Ile	rs1228917258	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598897G>A	gnomAD
WNT3	P56703	p.Ser130Phe	rs954922524	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598891G>A	TOPMed,gnomAD
WNT3	P56703	p.Cys131Tyr	rs1341068511	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598888C>T	gnomAD
WNT3	P56703	p.Ala132Thr	rs765884429	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598886C>T	ExAC,gnomAD
WNT3	P56703	p.Ala132Ser	rs765884429	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598886C>A	ExAC,gnomAD
WNT3	P56703	p.Gly134Asp	rs760094608	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598879C>T	ExAC,gnomAD
WNT3	P56703	p.Thr135Ala	rs771441245	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598877T>C	ExAC,gnomAD
WNT3	P56703	p.Thr137Pro	rs1163127102	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598871T>G	gnomAD
WNT3	P56703	p.Ile138Thr	rs1473415899	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598867A>G	TOPMed,gnomAD
WNT3	P56703	p.Gly140Ala	rs1237548572	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598861C>G	gnomAD
WNT3	P56703	p.Gly140Ser	rs1232484872	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598862C>T	TOPMed
WNT3	P56703	p.Asp142Glu	rs1189503846	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598854G>C	gnomAD
WNT3	P56703	p.Ser143Leu	rs374646467	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598852G>A	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.His144Pro	rs768344495	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598849T>G	ExAC,gnomAD
WNT3	P56703	p.His145Tyr	rs1343963521	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598847G>A	gnomAD
WNT3	P56703	p.Lys146Asn	rs779793771	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598842C>A	ExAC
WNT3	P56703	p.Lys146Glu	rs749108256	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598844T>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Glu151Asp	rs781282951	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598827T>A	ExAC,gnomAD
WNT3	P56703	p.Glu151Lys	rs1286011024	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598829C>T	gnomAD
WNT3	P56703	p.Trp153Cys	rs1452528986	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598821C>A	TOPMed
WNT3	P56703	p.Cys158Gly	rs1349987904	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598808A>C	gnomAD
WNT3	P56703	p.Cys158Tyr	rs1395471029	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598807C>T	TOPMed
WNT3	P56703	p.Glu160Lys	rs757224064	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598802C>T	ExAC,gnomAD
WNT3	P56703	p.Asp161Tyr	rs1408996739	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598799C>A	TOPMed
WNT3	P56703	p.Asp163Tyr	rs985420838	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598793C>A	gnomAD
WNT3	P56703	p.Asp163Asn	rs985420838	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598793C>T	gnomAD
WNT3	P56703	p.Asp163Glu	rs751644315	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598791G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Val168Leu	rs143350900	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598778C>A	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ala173Val	rs139902701	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598762G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asn178Tyr	rs1244749716	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598748T>A	gnomAD
WNT3	P56703	p.Asn178Lys	rs773911958	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598746G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asn178Lys	rs773911958	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598746G>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Pro180Leu	rs1346223556	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598741G>A	TOPMed
WNT3	P56703	p.Asp181His	rs1271201049	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598739C>G	TOPMed
WNT3	P56703	p.Arg183His	rs146457750	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598732C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Met186Thr	rs1289072372	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598723A>G	gnomAD
WNT3	P56703	p.Glu192Lys	rs949357754	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598706C>T	TOPMed
WNT3	P56703	p.Gly194Arg	rs747097936	missense variant	-	CHR_HSCHR17_2_CTG5:g.46598700C>G	ExAC,gnomAD
WNT3	P56703	p.Ile198Leu	rs772208937	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597706T>G	ExAC,gnomAD
WNT3	P56703	p.Ile198Val	rs772208937	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597706T>C	ExAC,gnomAD
WNT3	P56703	p.Leu204Phe	rs1166453534	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597688G>A	gnomAD
WNT3	P56703	p.Gly213Ser	rs1255537902	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597661C>T	gnomAD
WNT3	P56703	p.Gly213Asp	RCV000172906	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000017.11:g.46768750C>T	ClinVar
WNT3	P56703	p.Val217Ala	rs1244561458	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597648A>G	gnomAD
WNT3	P56703	p.Thr219Ser	rs1486757249	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597643T>A	gnomAD
WNT3	P56703	p.Ala223Val	rs754298042	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597630G>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg228His	rs780448017	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597615C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg228Cys	rs1253456656	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597616G>A	gnomAD
WNT3	P56703	p.Ala229Thr	rs1297668559	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597613C>T	gnomAD
WNT3	P56703	p.Ile230Val	rs375210034	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597610T>C	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Gly231Ser	rs1233413311	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597607C>T	gnomAD
WNT3	P56703	p.Asp232Gly	rs763517587	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597603T>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Lys235Asn	rs1408840375	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597593C>G	gnomAD
WNT3	P56703	p.Ser240Thr	rs752197956	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597579C>G	ExAC,gnomAD
WNT3	P56703	p.Ser240Arg	rs764908004	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597578G>T	ExAC,gnomAD
WNT3	P56703	p.Ala241Thr	rs759165713	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597577C>T	ExAC,gnomAD
WNT3	P56703	p.Ser242Trp	rs770718548	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597573G>C	ExAC,gnomAD
WNT3	P56703	p.Arg250Leu	rs760532705	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597549C>A	ExAC,gnomAD
WNT3	P56703	p.Arg253Gln	rs1444493326	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597540C>T	TOPMed
WNT3	P56703	p.Arg253Ter	rs1335027382	stop gained	-	CHR_HSCHR17_2_CTG5:g.46597541G>A	TOPMed
WNT3	P56703	p.Val256Met	rs773142859	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597532C>T	ExAC,gnomAD
WNT3	P56703	p.Arg260Gln	rs1488424377	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597519C>T	gnomAD
WNT3	P56703	p.Arg260Gly	rs1208483398	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597520G>C	gnomAD
WNT3	P56703	p.Ser264Trp	rs1266510350	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597507G>C	gnomAD
WNT3	P56703	p.Lys267Arg	RCV000349916	missense variant	Tetraamelia, autosomal recessive (TETAMS1)	NC_000017.11:g.46768588T>C	ClinVar
WNT3	P56703	p.Lys267Arg	rs886053073	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597498T>C	gnomAD
WNT3	P56703	p.Thr270Met	rs1253932905	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597489G>A	TOPMed
WNT3	P56703	p.Arg272Lys	rs1227379658	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597483C>T	gnomAD
WNT3	P56703	p.Tyr276Asn	rs1384823983	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597472A>T	gnomAD
WNT3	P56703	p.Pro281Ser	rs1389773314	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597457G>A	gnomAD
WNT3	P56703	p.Glu289Val	rs749481789	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597432T>A	ExAC,gnomAD
WNT3	P56703	p.Gly291Asp	rs780318283	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597426C>T	ExAC,gnomAD
WNT3	P56703	p.Thr299Ile	rs1240376838	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597402G>A	TOPMed
WNT3	P56703	p.Asn301Ser	rs1043363244	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597396T>C	TOPMed,gnomAD
WNT3	P56703	p.Ser304Phe	rs1376092571	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597387G>A	TOPMed
WNT3	P56703	p.His305Gln	rs200319318	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597383G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.His305Pro	rs536348987	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597384T>G	1000Genomes,ExAC,gnomAD
WNT3	P56703	p.Gly306Ser	rs757727243	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597382C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Ile307Thr	rs1463977312	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597378A>G	gnomAD
WNT3	P56703	p.Asp308His	rs754656610	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597376C>G	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Asp308Asn	rs754656610	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597376C>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.His319Pro	rs760574450	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597342T>G	ExAC,gnomAD
WNT3	P56703	p.His319Tyr	rs766100258	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597343G>A	ExAC,gnomAD
WNT3	P56703	p.His319Arg	rs760574450	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597342T>C	ExAC,gnomAD
WNT3	P56703	p.Thr321Met	rs1303969028	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597336G>A	TOPMed,gnomAD
WNT3	P56703	p.Arg322Gly	rs1363009249	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597334T>C	gnomAD
WNT3	P56703	p.Thr323Met	rs1319940652	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597330G>A	gnomAD
WNT3	P56703	p.Lys325Asn	rs761820418	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597323C>A	ExAC,gnomAD
WNT3	P56703	p.Arg326Gly	rs774595709	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597322G>C	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg326Trp	rs774595709	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597322G>A	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Arg326Gln	rs768821285	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597321C>T	ExAC,gnomAD
WNT3	P56703	p.His331Tyr	rs141597258	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597307G>A	ESP,ExAC
WNT3	P56703	p.Ile333Val	rs370821059	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597301T>C	ESP,gnomAD
WNT3	P56703	p.Cys338Tyr	rs1247905509	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597285C>T	gnomAD
WNT3	P56703	p.Tyr339Asn	rs1233589568	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597283A>T	TOPMed
WNT3	P56703	p.Val340Ile	rs1447018286	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597280C>T	gnomAD
WNT3	P56703	p.Cys342Phe	rs1197275644	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597273C>A	TOPMed
WNT3	P56703	p.Glu344Gly	rs747471187	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597267T>C	ExAC,gnomAD
WNT3	P56703	p.Ile346Met	rs1208822915	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597260A>C	gnomAD
WNT3	P56703	p.Arg347His	rs778399124	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597258C>T	ExAC,gnomAD
WNT3	P56703	p.Asp350Asn	rs147306984	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597250C>T	ESP,ExAC,TOPMed,gnomAD
WNT3	P56703	p.Val351Met	rs1265723023	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597247C>T	TOPMed
WNT3	P56703	p.His352Asn	rs766125270	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597244G>T	ExAC,TOPMed,gnomAD
WNT3	P56703	p.Thr353Asn	rs755692563	missense variant	-	CHR_HSCHR17_2_CTG5:g.46597240G>T	ExAC,gnomAD
WNT3	P56703	p.Ter356Gln	rs1376336260	stop lost	-	CHR_HSCHR17_2_CTG5:g.46597232A>G	gnomAD
WNT3A	P56704	p.Pro3Ser	rs769083925	missense variant	-	NC_000001.11:g.228007135C>T	ExAC,gnomAD
WNT3A	P56704	p.Leu4Pro	rs1369668727	missense variant	-	NC_000001.11:g.228007139T>C	gnomAD
WNT3A	P56704	p.Gly5Arg	rs1244397785	missense variant	-	NC_000001.11:g.228007141G>C	gnomAD
WNT3A	P56704	p.Leu10Phe	rs1219061838	missense variant	-	NC_000001.11:g.228007156C>T	gnomAD
WNT3A	P56704	p.Ser12Asn	rs773485951	missense variant	-	NC_000001.11:g.228007163G>A	ExAC,gnomAD
WNT3A	P56704	p.Ser12Ile	rs773485951	missense variant	-	NC_000001.11:g.228007163G>T	ExAC,gnomAD
WNT3A	P56704	p.Ala16Thr	rs747083898	missense variant	-	NC_000001.11:g.228007174G>A	ExAC,gnomAD
WNT3A	P56704	p.Ala16Val	rs989317880	missense variant	-	NC_000001.11:g.228007175C>T	TOPMed,gnomAD
WNT3A	P56704	p.Ala16Ser	rs747083898	missense variant	-	NC_000001.11:g.228007174G>T	ExAC,gnomAD
WNT3A	P56704	p.Gly18Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228007180G>C	NCI-TCGA
WNT3A	P56704	p.Ser19Asn	rs771033634	missense variant	-	NC_000001.11:g.228007184G>A	ExAC,gnomAD
WNT3A	P56704	p.Ser19Cys	rs1314260795	missense variant	-	NC_000001.11:g.228007183A>T	TOPMed
WNT3A	P56704	p.Ile22Met	rs532168900	missense variant	-	NC_000001.11:g.228007194C>G	1000Genomes,ExAC,gnomAD
WNT3A	P56704	p.Ser25Leu	rs745831522	missense variant	-	NC_000001.11:g.228022669C>T	NCI-TCGA,NCI-TCGA Cosmic
WNT3A	P56704	p.Ser25Trp	rs745831522	missense variant	-	NC_000001.11:g.228022669C>G	ExAC,gnomAD
WNT3A	P56704	p.Ser25Leu	rs745831522	missense variant	-	NC_000001.11:g.228022669C>T	ExAC,gnomAD
WNT3A	P56704	p.Ala27Val	COSM1962695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228022675C>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Val28Ala	COSM293041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228022678T>C	NCI-TCGA Cosmic
WNT3A	P56704	p.Pro30Leu	rs192966556	missense variant	-	NC_000001.11:g.228022684C>T	1000Genomes,ExAC,gnomAD
WNT3A	P56704	p.Pro30Ser	rs1329090456	missense variant	-	NC_000001.11:g.228022683C>T	gnomAD
WNT3A	P56704	p.Ser34Phe	rs1186454652	missense variant	-	NC_000001.11:g.228022696C>T	gnomAD
WNT3A	P56704	p.Gly36Asp	rs1354332166	missense variant	-	NC_000001.11:g.228022702G>A	gnomAD
WNT3A	P56704	p.Ser37Leu	rs761411292	missense variant	-	NC_000001.11:g.228022705C>T	NCI-TCGA,NCI-TCGA Cosmic
WNT3A	P56704	p.Ser37Leu	rs761411292	missense variant	-	NC_000001.11:g.228022705C>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Pro39Ser	rs755569705	missense variant	-	NC_000001.11:g.228022710C>T	NCI-TCGA,NCI-TCGA Cosmic
WNT3A	P56704	p.Pro39Ser	rs755569705	missense variant	-	NC_000001.11:g.228022710C>T	ExAC
WNT3A	P56704	p.Ser44Arg	rs1421075800	missense variant	-	NC_000001.11:g.228022727C>A	gnomAD
WNT3A	P56704	p.Pro46Leu	rs1156613570	missense variant	-	NC_000001.11:g.228022732C>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Pro46Leu	rs1156613570	missense variant	-	NC_000001.11:g.228022732C>T	TOPMed,gnomAD
WNT3A	P56704	p.Gly47Val	rs139491436	missense variant	-	NC_000001.11:g.228022735G>T	ESP
WNT3A	P56704	p.Pro50His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228022744C>A	NCI-TCGA
WNT3A	P56704	p.Lys51Met	rs145797401	missense variant	-	NC_000001.11:g.228022747A>T	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Lys51Arg	rs145797401	missense variant	-	NC_000001.11:g.228022747A>G	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg54His	rs1335028571	missense variant	-	NC_000001.11:g.228022756G>A	NCI-TCGA Cosmic
WNT3A	P56704	p.Arg54Cys	rs908046368	missense variant	-	NC_000001.11:g.228022755C>T	TOPMed,gnomAD
WNT3A	P56704	p.Arg54His	rs1335028571	missense variant	-	NC_000001.11:g.228022756G>A	TOPMed
WNT3A	P56704	p.Arg54Cys	rs908046368	missense variant	-	NC_000001.11:g.228022755C>T	NCI-TCGA
WNT3A	P56704	p.Arg57Lys	rs1442903743	missense variant	-	NC_000001.11:g.228022765G>A	TOPMed
WNT3A	P56704	p.Tyr59Phe	rs1466538942	missense variant	-	NC_000001.11:g.228022771A>T	gnomAD
WNT3A	P56704	p.Val60Met	rs199976080	missense variant	-	NC_000001.11:g.228022773G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Glu61Asp	COSM3789572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228022778G>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Ile62Val	rs1399260520	missense variant	-	NC_000001.11:g.228022779A>G	gnomAD
WNT3A	P56704	p.Ile62Met	rs779941062	missense variant	-	NC_000001.11:g.228022781C>G	ExAC,gnomAD
WNT3A	P56704	p.Met63Thr	rs749172940	missense variant	-	NC_000001.11:g.228022783T>C	ExAC,gnomAD
WNT3A	P56704	p.Pro64His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228022786C>A	NCI-TCGA
WNT3A	P56704	p.Pro64Ala	rs1324848850	missense variant	-	NC_000001.11:g.228022785C>G	TOPMed
WNT3A	P56704	p.Ser65Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228022790C>A	NCI-TCGA
WNT3A	P56704	p.Val66Leu	rs774063132	missense variant	-	NC_000001.11:g.228022791G>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Val66Met	rs774063132	missense variant	-	NC_000001.11:g.228022791G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Glu68Lys	rs548478697	missense variant	-	NC_000001.11:g.228022797G>A	NCI-TCGA,NCI-TCGA Cosmic
WNT3A	P56704	p.Glu68Lys	rs548478697	missense variant	-	NC_000001.11:g.228022797G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ile70Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228022804T>C	NCI-TCGA
WNT3A	P56704	p.Lys71Arg	COSM1339434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228022807A>G	NCI-TCGA Cosmic
WNT3A	P56704	p.Ile72Ser	rs760074981	missense variant	-	NC_000001.11:g.228022810T>G	ExAC,gnomAD
WNT3A	P56704	p.Ile72Val	rs772847803	missense variant	-	NC_000001.11:g.228022809A>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ile72Thr	rs760074981	missense variant	-	NC_000001.11:g.228022810T>C	ExAC,gnomAD
WNT3A	P56704	p.Glu76Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228022822A>T	NCI-TCGA
WNT3A	P56704	p.Glu76Ter	rs1346108878	stop gained	-	NC_000001.11:g.228022821G>T	TOPMed,gnomAD
WNT3A	P56704	p.Cys77Arg	rs1280235364	missense variant	-	NC_000001.11:g.228022824T>C	gnomAD
WNT3A	P56704	p.His79Tyr	rs147742383	missense variant	-	NC_000001.11:g.228022830C>T	ESP,TOPMed
WNT3A	P56704	p.Arg82His	rs142644449	missense variant	-	NC_000001.11:g.228022840G>A	NCI-TCGA
WNT3A	P56704	p.Arg82His	rs142644449	missense variant	-	NC_000001.11:g.228022840G>A	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg82Cys	rs753280205	missense variant	-	NC_000001.11:g.228022839C>T	ExAC,gnomAD
WNT3A	P56704	p.Gly83Ser	rs371989231	missense variant	-	NC_000001.11:g.228022842G>A	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg84His	rs750564361	missense variant	-	NC_000001.11:g.228022846G>A	ExAC,gnomAD
WNT3A	P56704	p.Arg84His	rs750564361	missense variant	-	NC_000001.11:g.228022846G>A	NCI-TCGA,NCI-TCGA Cosmic
WNT3A	P56704	p.Arg84Gly	rs757565394	missense variant	-	NC_000001.11:g.228022845C>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg84Cys	rs757565394	missense variant	-	NC_000001.11:g.228022845C>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg85Trp	rs780065621	missense variant	-	NC_000001.11:g.228022848C>T	NCI-TCGA
WNT3A	P56704	p.Arg85Trp	rs780065621	missense variant	-	NC_000001.11:g.228022848C>T	ExAC,gnomAD
WNT3A	P56704	p.Arg85Gln	rs749224268	missense variant	-	NC_000001.11:g.228022849G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Trp86Ter	COSM3484405	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.228022853G>A	NCI-TCGA Cosmic
WNT3A	P56704	p.Trp86Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228022853G>T	NCI-TCGA
WNT3A	P56704	p.Trp86Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.228022852G>A	NCI-TCGA
WNT3A	P56704	p.Asn87Lys	COSM6061613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228022856C>G	NCI-TCGA Cosmic
WNT3A	P56704	p.Thr90Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228022863A>G	NCI-TCGA
WNT3A	P56704	p.Val91Ile	rs572229142	missense variant	-	NC_000001.11:g.228022866G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Asp93Asn	rs201274685	missense variant	-	NC_000001.11:g.228022872G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Leu95Gln	rs760328956	missense variant	-	NC_000001.11:g.228022879T>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ala96Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228022882C>T	NCI-TCGA
WNT3A	P56704	p.Ala96Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228022881G>A	NCI-TCGA
WNT3A	P56704	p.Ala96Ser	rs371944998	missense variant	-	NC_000001.11:g.228022881G>T	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ile97Val	rs776215625	missense variant	-	NC_000001.11:g.228022884A>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Phe98Leu	rs763611956	missense variant	-	NC_000001.11:g.228022887T>C	ExAC,gnomAD
WNT3A	P56704	p.Pro100Leu	rs762060880	missense variant	-	NC_000001.11:g.228022894C>T	ExAC,gnomAD
WNT3A	P56704	p.Pro100Ser	rs752010161	missense variant	-	NC_000001.11:g.228022893C>T	ExAC,gnomAD
WNT3A	P56704	p.Val101Met	rs756289627	missense variant	-	NC_000001.11:g.228022896G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Glu108Asp	rs1444107117	missense variant	-	NC_000001.11:g.228050666G>T	gnomAD
WNT3A	P56704	p.Ser109Leu	rs752609956	missense variant	-	NC_000001.11:g.228050668C>T	NCI-TCGA
WNT3A	P56704	p.Ser109Leu	rs752609956	missense variant	-	NC_000001.11:g.228050668C>T	ExAC,gnomAD
WNT3A	P56704	p.Ala110Gly	rs1246405858	missense variant	-	NC_000001.11:g.228050671C>G	gnomAD
WNT3A	P56704	p.Phe111Cys	COSM6124808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228050674T>G	NCI-TCGA Cosmic
WNT3A	P56704	p.Phe111Ser	rs1416614180	missense variant	-	NC_000001.11:g.228050674T>C	TOPMed
WNT3A	P56704	p.His113Tyr	COSM3484407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228050679C>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Ala114Thr	rs757010599	missense variant	-	NC_000001.11:g.228050682G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ile115Met	rs745466989	missense variant	-	NC_000001.11:g.228050687T>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ser117Ter	COSM6124806	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.228050692C>A	NCI-TCGA Cosmic
WNT3A	P56704	p.Gly119Asp	rs753888521	missense variant	-	NC_000001.11:g.228050698G>A	ExAC,gnomAD
WNT3A	P56704	p.Gly119Ser	rs774995569	missense variant	-	NC_000001.11:g.228050697G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Val120Met	rs1402544448	missense variant	-	NC_000001.11:g.228050700G>A	gnomAD
WNT3A	P56704	p.Ala121Asp	COSM6061611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228050704C>A	NCI-TCGA Cosmic
WNT3A	P56704	p.Ala121Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228050704C>T	NCI-TCGA
WNT3A	P56704	p.Val124Met	rs1243774748	missense variant	-	NC_000001.11:g.228050712G>A	TOPMed
WNT3A	P56704	p.Thr125Arg	rs1417726750	missense variant	-	NC_000001.11:g.228050716C>G	gnomAD
WNT3A	P56704	p.Arg126Cys	rs773519307	missense variant	-	NC_000001.11:g.228050718C>T	NCI-TCGA
WNT3A	P56704	p.Arg126His	rs370854032	missense variant	-	NC_000001.11:g.228050719G>A	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg126Cys	rs773519307	missense variant	-	NC_000001.11:g.228050718C>T	ExAC,gnomAD
WNT3A	P56704	p.Ser127Leu	rs766639977	missense variant	-	NC_000001.11:g.228050722C>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Cys128Arg	rs1297226194	missense variant	-	NC_000001.11:g.228050724T>C	gnomAD
WNT3A	P56704	p.Glu130Val	rs1343957348	missense variant	-	NC_000001.11:g.228050731A>T	TOPMed
WNT3A	P56704	p.Thr132Met	rs776863772	missense variant	-	NC_000001.11:g.228050737C>T	NCI-TCGA
WNT3A	P56704	p.Thr132Ala	rs150424650	missense variant	-	NC_000001.11:g.228050736A>G	ESP,TOPMed
WNT3A	P56704	p.Thr132Lys	rs776863772	missense variant	-	NC_000001.11:g.228050737C>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Thr132Met	rs776863772	missense variant	-	NC_000001.11:g.228050737C>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ala133Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228050740C>T	NCI-TCGA
WNT3A	P56704	p.Ala134Thr	rs61743220	missense variant	-	NC_000001.11:g.228050742G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Cys138Trp	rs1259994744	missense variant	-	NC_000001.11:g.228050756C>G	gnomAD
WNT3A	P56704	p.Ser140Asn	rs149537631	missense variant	-	NC_000001.11:g.228050761G>A	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg141Cys	rs751360123	missense variant	-	NC_000001.11:g.228050763C>T	NCI-TCGA,NCI-TCGA Cosmic
WNT3A	P56704	p.Arg141Cys	rs751360123	missense variant	-	NC_000001.11:g.228050763C>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg141Leu	rs148616293	missense variant	-	NC_000001.11:g.228050764G>T	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg141Pro	rs148616293	missense variant	-	NC_000001.11:g.228050764G>C	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg141His	rs148616293	missense variant	-	NC_000001.11:g.228050764G>A	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.His142Asn	rs1484378284	missense variant	-	NC_000001.11:g.228050766C>A	gnomAD
WNT3A	P56704	p.Ser145Leu	rs1478227750	missense variant	-	NC_000001.11:g.228050776C>T	gnomAD
WNT3A	P56704	p.Pro146Ala	rs956380865	missense variant	-	NC_000001.11:g.228050778C>G	TOPMed
WNT3A	P56704	p.Pro146Leu	rs988241577	missense variant	-	NC_000001.11:g.228050779C>T	TOPMed
WNT3A	P56704	p.Gly147Asp	rs1196429845	missense variant	-	NC_000001.11:g.228050782G>A	TOPMed,gnomAD
WNT3A	P56704	p.Lys148Met	rs779484095	missense variant	-	NC_000001.11:g.228050785A>T	ExAC
WNT3A	P56704	p.Lys148Asn	rs866676661	missense variant	-	NC_000001.11:g.228050786G>T	TOPMed
WNT3A	P56704	p.Lys151Arg	rs748823923	missense variant	-	NC_000001.11:g.228050794A>G	ExAC,gnomAD
WNT3A	P56704	p.Gly153Ser	rs772499033	missense variant	-	NC_000001.11:g.228050799G>A	ExAC,gnomAD
WNT3A	P56704	p.Gly154Asp	rs1021976426	missense variant	-	NC_000001.11:g.228050803G>A	TOPMed,gnomAD
WNT3A	P56704	p.Ser156Arg	rs1467269448	missense variant	-	NC_000001.11:g.228050810C>A	TOPMed,gnomAD
WNT3A	P56704	p.Glu157Asp	COSM5106771	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228050813G>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Glu157Lys	rs778326387	missense variant	-	NC_000001.11:g.228050811G>A	NCI-TCGA,NCI-TCGA Cosmic
WNT3A	P56704	p.Glu157Lys	rs778326387	missense variant	-	NC_000001.11:g.228050811G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Asp158Gly	COSM4028840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228050815A>G	NCI-TCGA Cosmic
WNT3A	P56704	p.Asp158His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228050814G>C	NCI-TCGA
WNT3A	P56704	p.Asp158Asn	rs1488574529	missense variant	-	NC_000001.11:g.228050814G>A	NCI-TCGA
WNT3A	P56704	p.Asp158Val	rs1291558728	missense variant	-	NC_000001.11:g.228050815A>T	TOPMed
WNT3A	P56704	p.Asp158Asn	rs1488574529	missense variant	-	NC_000001.11:g.228050814G>A	TOPMed,gnomAD
WNT3A	P56704	p.Glu160Lys	rs375627842	missense variant	-	NC_000001.11:g.228050820G>A	NCI-TCGA
WNT3A	P56704	p.Glu160Lys	rs375627842	missense variant	-	NC_000001.11:g.228050820G>A	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Glu160Gln	rs375627842	missense variant	-	NC_000001.11:g.228050820G>C	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Gly163Arg	rs759770474	missense variant	-	NC_000001.11:g.228050829G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Met164Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228050832A>G	NCI-TCGA
WNT3A	P56704	p.Met164Ile	rs1003822634	missense variant	-	NC_000001.11:g.228050834G>A	TOPMed,gnomAD
WNT3A	P56704	p.Met164Ile	rs1003822634	missense variant	-	NC_000001.11:g.228050834G>C	TOPMed,gnomAD
WNT3A	P56704	p.Val165Glu	rs1352751814	missense variant	-	NC_000001.11:g.228050836T>A	TOPMed
WNT3A	P56704	p.Ser166Cys	rs529067103	missense variant	-	NC_000001.11:g.228050839C>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg167Trp	rs775470850	missense variant	-	NC_000001.11:g.228050841C>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg167Gln	rs1208275108	missense variant	-	NC_000001.11:g.228050842G>A	TOPMed,gnomAD
WNT3A	P56704	p.Glu168Asp	rs1279931043	missense variant	-	NC_000001.11:g.228050846G>C	gnomAD
WNT3A	P56704	p.Phe169Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228050847T>C	NCI-TCGA
WNT3A	P56704	p.Phe169Leu	rs141170201	missense variant	-	NC_000001.11:g.228050849C>A	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ala170Thr	rs1218915358	missense variant	-	NC_000001.11:g.228050850G>A	TOPMed,gnomAD
WNT3A	P56704	p.Asp171Asn	rs1485828508	missense variant	-	NC_000001.11:g.228050853G>A	NCI-TCGA Cosmic
WNT3A	P56704	p.Asp171Asn	rs1485828508	missense variant	-	NC_000001.11:g.228050853G>A	TOPMed,gnomAD
WNT3A	P56704	p.Asp171Glu	rs61742275	missense variant	-	NC_000001.11:g.228050855C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ala172Thr	rs761771501	missense variant	-	NC_000001.11:g.228050856G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ala172Ser	rs761771501	missense variant	-	NC_000001.11:g.228050856G>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg173Trp	rs767429545	missense variant	-	NC_000001.11:g.228050859C>T	ExAC,TOPMed
WNT3A	P56704	p.Arg173Gln	rs750227757	missense variant	-	NC_000001.11:g.228050860G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg173Leu	rs750227757	missense variant	-	NC_000001.11:g.228050860G>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg176Trp	rs755786376	missense variant	-	NC_000001.11:g.228050868C>T	ExAC,gnomAD
WNT3A	P56704	p.Arg176Gln	rs779729203	missense variant	-	NC_000001.11:g.228050869G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Pro177Leu	rs1229666623	missense variant	-	NC_000001.11:g.228050872C>T	TOPMed
WNT3A	P56704	p.Pro177Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228050871C>T	NCI-TCGA
WNT3A	P56704	p.Asp178Gly	rs1343293977	missense variant	-	NC_000001.11:g.228050875A>G	gnomAD
WNT3A	P56704	p.Ala179Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228050878C>T	NCI-TCGA
WNT3A	P56704	p.Ala179Gly	rs753339916	missense variant	-	NC_000001.11:g.228050878C>G	ExAC,gnomAD
WNT3A	P56704	p.Arg180Cys	COSM4899749	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228050880C>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Arg180His	rs147719804	missense variant	-	NC_000001.11:g.228050881G>A	ESP,ExAC,gnomAD
WNT3A	P56704	p.Ala182Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228050887C>T	NCI-TCGA
WNT3A	P56704	p.Asn184Ser	rs1217311405	missense variant	-	NC_000001.11:g.228050893A>G	TOPMed,gnomAD
WNT3A	P56704	p.Asn184Thr	rs1217311405	missense variant	-	NC_000001.11:g.228050893A>C	TOPMed,gnomAD
WNT3A	P56704	p.Arg185Cys	rs778250375	missense variant	-	NC_000001.11:g.228050895C>T	NCI-TCGA
WNT3A	P56704	p.Arg185His	rs747520416	missense variant	-	NC_000001.11:g.228050896G>A	NCI-TCGA,NCI-TCGA Cosmic
WNT3A	P56704	p.Arg185His	rs747520416	missense variant	-	NC_000001.11:g.228050896G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg185Cys	rs778250375	missense variant	-	NC_000001.11:g.228050895C>T	ExAC,gnomAD
WNT3A	P56704	p.Asn188Ser	rs771369579	missense variant	-	NC_000001.11:g.228050905A>G	ExAC,gnomAD
WNT3A	P56704	p.Arg192Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228050916C>T	NCI-TCGA
WNT3A	P56704	p.Arg192His	rs746228586	missense variant	-	NC_000001.11:g.228050917G>A	NCI-TCGA
WNT3A	P56704	p.Arg192His	rs746228586	missense variant	-	NC_000001.11:g.228050917G>A	ExAC,gnomAD
WNT3A	P56704	p.Gln193Ter	rs769957066	stop gained	-	NC_000001.11:g.228050919C>T	ExAC,gnomAD
WNT3A	P56704	p.Ala196Val	COSM4028844	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228058993C>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Ala196Asp	rs913365692	missense variant	-	NC_000001.11:g.228058993C>A	gnomAD
WNT3A	P56704	p.Ser197Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228058996G>C	NCI-TCGA
WNT3A	P56704	p.Met199Thr	rs1210134207	missense variant	-	NC_000001.11:g.228059002T>C	TOPMed,gnomAD
WNT3A	P56704	p.Met199Leu	rs752245358	missense variant	-	NC_000001.11:g.228059001A>C	ExAC,gnomAD
WNT3A	P56704	p.His200Asn	rs757925292	missense variant	-	NC_000001.11:g.228059004C>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Leu201Pro	rs763552773	missense variant	-	NC_000001.11:g.228059008T>C	ExAC,gnomAD
WNT3A	P56704	p.Cys205Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228059020G>A	NCI-TCGA
WNT3A	P56704	p.Gly207Arg	COSM1339435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228059025G>A	NCI-TCGA Cosmic
WNT3A	P56704	p.Ser209Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228059032C>T	NCI-TCGA
WNT3A	P56704	p.Gly210Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228059034G>A	NCI-TCGA
WNT3A	P56704	p.Glu213Asp	COSM5134716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228059045G>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Glu213Lys	rs374568174	missense variant	-	NC_000001.11:g.228059043G>A	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Trp218Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228059058T>A	NCI-TCGA
WNT3A	P56704	p.Trp218Arg	rs1478654890	missense variant	-	NC_000001.11:g.228059058T>C	gnomAD
WNT3A	P56704	p.Trp219Arg	rs756519375	missense variant	-	NC_000001.11:g.228059061T>C	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Trp219Cys	rs1415269833	missense variant	-	NC_000001.11:g.228059063G>T	gnomAD
WNT3A	P56704	p.Trp219Ser	rs780521544	missense variant	-	NC_000001.11:g.228059062G>C	ExAC,gnomAD
WNT3A	P56704	p.Pro222Thr	rs972949582	missense variant	-	NC_000001.11:g.228059070C>A	TOPMed
WNT3A	P56704	p.Pro222Ala	rs972949582	missense variant	-	NC_000001.11:g.228059070C>G	TOPMed
WNT3A	P56704	p.Asp223Tyr	COSM464076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228059073G>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Asp223His	rs749607111	missense variant	-	NC_000001.11:g.228059073G>C	ExAC,gnomAD
WNT3A	P56704	p.Asp223Gly	rs755288390	missense variant	-	NC_000001.11:g.228059074A>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ala226Thr	rs779252848	missense variant	-	NC_000001.11:g.228059082G>A	ExAC,gnomAD
WNT3A	P56704	p.Ile227Met	rs1306538398	missense variant	-	NC_000001.11:g.228059087C>G	TOPMed
WNT3A	P56704	p.Gly228Arg	rs1279333399	missense variant	-	NC_000001.11:g.228059088G>C	TOPMed,gnomAD
WNT3A	P56704	p.Gly228Ser	rs1279333399	missense variant	-	NC_000001.11:g.228059088G>A	TOPMed,gnomAD
WNT3A	P56704	p.Gly228Cys	rs1279333399	missense variant	-	NC_000001.11:g.228059088G>T	TOPMed,gnomAD
WNT3A	P56704	p.Asp229Tyr	rs528410256	missense variant	-	NC_000001.11:g.228059091G>T	1000Genomes
WNT3A	P56704	p.Leu231Phe	rs918805028	missense variant	-	NC_000001.11:g.228059097C>T	TOPMed
WNT3A	P56704	p.Lys234Met	rs540131703	missense variant	-	NC_000001.11:g.228059107A>T	1000Genomes,gnomAD
WNT3A	P56704	p.Lys234Glu	rs748335041	missense variant	-	NC_000001.11:g.228059106A>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Tyr235Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228059110A>G	NCI-TCGA
WNT3A	P56704	p.Asp236Gly	rs773363110	missense variant	-	NC_000001.11:g.228059113A>G	ExAC,gnomAD
WNT3A	P56704	p.Asp236Asn	rs772312947	missense variant	-	NC_000001.11:g.228059112G>A	ExAC,gnomAD
WNT3A	P56704	p.Ser237Arg	rs148923278	missense variant	-	NC_000001.11:g.228059115A>C	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ser237Gly	rs148923278	missense variant	-	NC_000001.11:g.228059115A>G	ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ser239Leu	rs759222295	missense variant	-	NC_000001.11:g.228059122C>T	ExAC,gnomAD
WNT3A	P56704	p.Met241Ile	rs1372749020	missense variant	-	NC_000001.11:g.228059129G>T	TOPMed
WNT3A	P56704	p.Arg247Trp	rs1489235025	missense variant	-	NC_000001.11:g.228059145C>T	gnomAD
WNT3A	P56704	p.Ser249Phe	rs1425651353	missense variant	-	NC_000001.11:g.228059152C>T	TOPMed
WNT3A	P56704	p.Arg250His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228059155G>A	NCI-TCGA
WNT3A	P56704	p.Trp252Leu	rs1478273314	missense variant	-	NC_000001.11:g.228059161G>T	gnomAD
WNT3A	P56704	p.Val253Leu	rs762526284	missense variant	-	NC_000001.11:g.228059163G>C	ExAC,gnomAD
WNT3A	P56704	p.Glu254Asp	rs1393525016	missense variant	-	NC_000001.11:g.228059168G>T	gnomAD
WNT3A	P56704	p.Thr255Ile	rs1244824420	missense variant	-	NC_000001.11:g.228059170C>T	TOPMed,gnomAD
WNT3A	P56704	p.Pro258Ser	rs1434140543	missense variant	-	NC_000001.11:g.228059178C>T	gnomAD
WNT3A	P56704	p.Pro258Leu	rs763607191	missense variant	-	NC_000001.11:g.228059179C>T	ExAC,gnomAD
WNT3A	P56704	p.Arg259Cys	COSM4028846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228059181C>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Arg259Leu	rs768601883	missense variant	-	NC_000001.11:g.228059182G>T	gnomAD
WNT3A	P56704	p.Thr261Pro	rs1318316656	missense variant	-	NC_000001.11:g.228059187A>C	gnomAD
WNT3A	P56704	p.Tyr262Ser	rs761306494	missense variant	-	NC_000001.11:g.228059191A>C	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Phe263Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228059195C>A	NCI-TCGA
WNT3A	P56704	p.Lys264Met	rs766763034	missense variant	-	NC_000001.11:g.228059197A>T	ExAC,gnomAD
WNT3A	P56704	p.Val265Met	rs754274567	missense variant	-	NC_000001.11:g.228059199G>A	ExAC,gnomAD
WNT3A	P56704	p.Pro266Leu	rs755419088	missense variant	-	NC_000001.11:g.228059203C>T	ExAC,gnomAD
WNT3A	P56704	p.Thr267Met	COSM4028848	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228059206C>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Thr267Ala	rs1286126766	missense variant	-	NC_000001.11:g.228059205A>G	gnomAD
WNT3A	P56704	p.Thr267Lys	rs1352290312	missense variant	-	NC_000001.11:g.228059206C>A	gnomAD
WNT3A	P56704	p.Glu268Asp	rs758639003	missense variant	-	NC_000001.11:g.228059210G>T	ExAC,gnomAD
WNT3A	P56704	p.Arg269Ser	rs1451915997	missense variant	-	NC_000001.11:g.228059211C>A	gnomAD
WNT3A	P56704	p.Asp270Asn	rs942761890	missense variant	-	NC_000001.11:g.228059214G>A	TOPMed,gnomAD
WNT3A	P56704	p.Val272Ile	rs1200771051	missense variant	-	NC_000001.11:g.228059220G>A	gnomAD
WNT3A	P56704	p.Tyr273Phe	rs777968701	missense variant	-	NC_000001.11:g.228059224A>T	ExAC,gnomAD
WNT3A	P56704	p.Glu275Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228059229G>A	NCI-TCGA
WNT3A	P56704	p.Ala276Asp	rs770943239	missense variant	-	NC_000001.11:g.228059233C>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Ser277Leu	COSM6124800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228059236C>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Pro278Ser	rs1451769077	missense variant	-	NC_000001.11:g.228059238C>T	gnomAD
WNT3A	P56704	p.Asn279Asp	rs1158471028	missense variant	-	NC_000001.11:g.228059241A>G	gnomAD
WNT3A	P56704	p.Glu282Lys	rs1392112871	missense variant	-	NC_000001.11:g.228059250G>A	gnomAD
WNT3A	P56704	p.Pro283Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.228059254C>T	NCI-TCGA
WNT3A	P56704	p.Asn284Thr	rs745763393	missense variant	-	NC_000001.11:g.228059257A>C	ExAC,gnomAD
WNT3A	P56704	p.Pro285His	rs1439692173	missense variant	-	NC_000001.11:g.228059260C>A	gnomAD
WNT3A	P56704	p.Phe290Ser	rs762651977	missense variant	-	NC_000001.11:g.228059275T>C	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Gly291Arg	rs890467543	missense variant	-	NC_000001.11:g.228059277G>C	TOPMed
WNT3A	P56704	p.Arg293Cys	COSM6045370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.228059283C>T	NCI-TCGA Cosmic
WNT3A	P56704	p.Arg293His	rs768290043	missense variant	-	NC_000001.11:g.228059284G>A	ExAC,gnomAD
WNT3A	P56704	p.Asp294Tyr	rs1414615240	missense variant	-	NC_000001.11:g.228059286G>T	gnomAD
WNT3A	P56704	p.Arg295His	rs1356967553	missense variant	-	NC_000001.11:g.228059290G>A	gnomAD
WNT3A	P56704	p.Thr296Pro	rs773948729	missense variant	-	NC_000001.11:g.228059292A>C	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Thr296Ile	rs1467916568	missense variant	-	NC_000001.11:g.228059293C>T	gnomAD
WNT3A	P56704	p.Val299Ile	rs145403278	missense variant	-	NC_000001.11:g.228059301G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Val299Gly	rs1349702366	missense variant	-	NC_000001.11:g.228059302T>G	gnomAD
WNT3A	P56704	p.Ser300Asn	rs1019954452	missense variant	-	NC_000001.11:g.228059305G>A	TOPMed,gnomAD
WNT3A	P56704	p.Ser300Arg	rs767000954	missense variant	-	NC_000001.11:g.228059306C>G	ExAC,gnomAD
WNT3A	P56704	p.Ser301Ala	rs1181222661	missense variant	-	NC_000001.11:g.228059307T>G	gnomAD
WNT3A	P56704	p.Ser301Thr	rs1181222661	missense variant	-	NC_000001.11:g.228059307T>A	gnomAD
WNT3A	P56704	p.His302Asp	rs760055965	missense variant	-	NC_000001.11:g.228059310C>G	ExAC,gnomAD
WNT3A	P56704	p.Gly303Ser	rs765713241	missense variant	-	NC_000001.11:g.228059313G>A	ExAC,gnomAD
WNT3A	P56704	p.Ile304Val	rs1394201325	missense variant	-	NC_000001.11:g.228059316A>G	TOPMed,gnomAD
WNT3A	P56704	p.Gly306Arg	rs1459640996	missense variant	-	NC_000001.11:g.228059322G>C	TOPMed
WNT3A	P56704	p.Gly306Val	rs1331586023	missense variant	-	NC_000001.11:g.228059323G>T	gnomAD
WNT3A	P56704	p.Leu310Met	rs1398220132	missense variant	-	NC_000001.11:g.228059334C>A	gnomAD
WNT3A	P56704	p.Gly313Arg	rs902409625	missense variant	-	NC_000001.11:g.228059343G>C	TOPMed,gnomAD
WNT3A	P56704	p.Gly313Ser	rs902409625	missense variant	-	NC_000001.11:g.228059343G>A	TOPMed,gnomAD
WNT3A	P56704	p.Gly315Asp	rs1235051533	missense variant	-	NC_000001.11:g.228059350G>A	gnomAD
WNT3A	P56704	p.Ala318Pro	rs1000804649	missense variant	-	NC_000001.11:g.228059358G>C	TOPMed,gnomAD
WNT3A	P56704	p.Arg319Gln	rs1267785518	missense variant	-	NC_000001.11:g.228059362G>A	TOPMed
WNT3A	P56704	p.Glu321Gln	rs1199059579	missense variant	-	NC_000001.11:g.228059367G>C	gnomAD
WNT3A	P56704	p.Arg322Gln	rs1211326543	missense variant	-	NC_000001.11:g.228059371G>A	TOPMed
WNT3A	P56704	p.Arg322Gln	rs1211326543	missense variant	-	NC_000001.11:g.228059371G>A	NCI-TCGA
WNT3A	P56704	p.Arg322Gly	rs1339111495	missense variant	-	NC_000001.11:g.228059370C>G	gnomAD
WNT3A	P56704	p.Arg323His	rs1253254692	missense variant	-	NC_000001.11:g.228059374G>A	gnomAD
WNT3A	P56704	p.Arg324Trp	rs199932668	missense variant	-	NC_000001.11:g.228059376C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg324Gln	rs751711828	missense variant	-	NC_000001.11:g.228059377G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg324Gly	rs199932668	missense variant	-	NC_000001.11:g.228059376C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg324Leu	rs751711828	missense variant	-	NC_000001.11:g.228059377G>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg324Pro	rs751711828	missense variant	-	NC_000001.11:g.228059377G>C	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Glu325Asp	rs1476266555	missense variant	-	NC_000001.11:g.228059381G>T	TOPMed,gnomAD
WNT3A	P56704	p.Lys326Gln	rs757311204	missense variant	-	NC_000001.11:g.228059382A>C	ExAC,gnomAD
WNT3A	P56704	p.Arg328His	rs745818320	missense variant	-	NC_000001.11:g.228059389G>A	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Arg328Cys	rs781265731	missense variant	-	NC_000001.11:g.228059388C>T	ExAC,gnomAD
WNT3A	P56704	p.Arg328Gly	rs781265731	missense variant	-	NC_000001.11:g.228059388C>G	ExAC,gnomAD
WNT3A	P56704	p.Cys329Arg	rs1173276571	missense variant	-	NC_000001.11:g.228059391T>C	gnomAD
WNT3A	P56704	p.His332Leu	rs779887551	missense variant	-	NC_000001.11:g.228059401A>T	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.His332Arg	rs779887551	missense variant	-	NC_000001.11:g.228059401A>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Trp333Ter	rs1297319205	stop gained	-	NC_000001.11:g.228059404G>A	gnomAD
WNT3A	P56704	p.Cys334Phe	rs749047485	missense variant	-	NC_000001.11:g.228059407G>T	ExAC
WNT3A	P56704	p.Ser338Asn	rs1457857286	missense variant	-	NC_000001.11:g.228059419G>A	TOPMed
WNT3A	P56704	p.Gln340Arg	rs761489951	missense variant	-	NC_000001.11:g.228059425A>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Glu341Gly	rs772794103	missense variant	-	NC_000001.11:g.228059428A>G	ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Glu341Gln	rs771490465	missense variant	-	NC_000001.11:g.228059427G>C	ExAC,gnomAD
WNT3A	P56704	p.Val345Ile	rs375339690	missense variant	-	NC_000001.11:g.228059439G>A	NCI-TCGA
WNT3A	P56704	p.Val345Ala	rs1257348180	missense variant	-	NC_000001.11:g.228059440T>C	gnomAD
WNT3A	P56704	p.Val345Phe	rs375339690	missense variant	-	NC_000001.11:g.228059439G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Val345Ile	rs375339690	missense variant	-	NC_000001.11:g.228059439G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT3A	P56704	p.Asp347Glu	rs1488910356	missense variant	-	NC_000001.11:g.228059447C>A	gnomAD
WNT3A	P56704	p.Val348Met	rs776037564	missense variant	-	NC_000001.11:g.228059448G>A	ExAC,gnomAD
WNT3A	P56704	p.Val348Leu	rs776037564	missense variant	-	NC_000001.11:g.228059448G>T	ExAC,gnomAD
WNT3A	P56704	p.Thr350Ile	rs1428330715	missense variant	-	NC_000001.11:g.228059455C>T	gnomAD
WNT3A	P56704	p.Lys352Arg	rs763389055	missense variant	-	NC_000001.11:g.228059461A>G	ExAC,TOPMed,gnomAD
GSC	P56915	p.Pro2Leu	rs1379514100	missense variant	-	NC_000014.9:g.94770011G>A	gnomAD
GSC	P56915	p.Pro2Thr	rs868545171	missense variant	-	NC_000014.9:g.94770012G>T	TOPMed
GSC	P56915	p.Pro2Ser	rs868545171	missense variant	-	NC_000014.9:g.94770012G>A	TOPMed
GSC	P56915	p.Ala3Thr	rs1480263027	missense variant	-	NC_000014.9:g.94770009C>T	gnomAD
GSC	P56915	p.Ser7Asn	rs747285885	missense variant	-	NC_000014.9:g.94769996C>T	ExAC,gnomAD
GSC	P56915	p.Ile8Thr	rs778230655	missense variant	-	NC_000014.9:g.94769993A>G	ExAC,gnomAD
GSC	P56915	p.Asp9Tyr	rs1029759374	missense variant	-	NC_000014.9:g.94769991C>A	gnomAD
GSC	P56915	p.Asn10Ser	rs753305679	missense variant	-	NC_000014.9:g.94769987T>C	ExAC,gnomAD
GSC	P56915	p.Leu12Pro	rs764836563	missense variant	-	NC_000014.9:g.94769981A>G	ExAC,gnomAD
GSC	P56915	p.Ala13Val	rs1288594053	missense variant	-	NC_000014.9:g.94769978G>A	gnomAD
GSC	P56915	p.Arg15Trp	rs1240851072	missense variant	-	NC_000014.9:g.94769973G>A	gnomAD
GSC	P56915	p.Arg17Leu	rs1333825291	missense variant	-	NC_000014.9:g.94769966C>A	gnomAD
GSC	P56915	p.Lys19Glu	rs868242635	missense variant	-	NC_000014.9:g.94769961T>C	TOPMed
GSC	P56915	p.Lys19Asn	rs1328098437	missense variant	-	NC_000014.9:g.94769959C>G	gnomAD
GSC	P56915	p.Ser21Leu	rs1396581310	missense variant	-	NC_000014.9:g.94769954G>A	gnomAD
GSC	P56915	p.Val22Gly	rs1300245006	missense variant	-	NC_000014.9:g.94769951A>C	TOPMed
GSC	P56915	p.Val22Met	rs1334733197	missense variant	-	NC_000014.9:g.94769952C>T	gnomAD
GSC	P56915	p.Leu23Phe	rs753414164	missense variant	-	NC_000014.9:g.94769947C>G	ExAC,TOPMed,gnomAD
GSC	P56915	p.Pro24Leu	rs1412894670	missense variant	-	NC_000014.9:g.94769945G>A	gnomAD
GSC	P56915	p.Val25Met	rs1468916690	missense variant	-	NC_000014.9:g.94769943C>T	gnomAD
GSC	P56915	p.Ala26Val	rs1006202219	missense variant	-	NC_000014.9:g.94769939G>A	TOPMed,gnomAD
GSC	P56915	p.Ala26Pro	rs1196608911	missense variant	-	NC_000014.9:g.94769940C>G	TOPMed
GSC	P56915	p.His27Arg	rs1444585049	missense variant	-	NC_000014.9:g.94769936T>C	gnomAD
GSC	P56915	p.Ser28Asn	rs1241865372	missense variant	-	NC_000014.9:g.94769933C>T	gnomAD
GSC	P56915	p.Ala29Val	rs1385061223	missense variant	-	NC_000014.9:g.94769930G>A	gnomAD
GSC	P56915	p.Ala30Val	rs760439922	missense variant	-	NC_000014.9:g.94769927G>A	ExAC,gnomAD
GSC	P56915	p.Ala31Thr	rs767391192	missense variant	-	NC_000014.9:g.94769925C>T	ExAC
GSC	P56915	p.Pro32Ser	rs761638109	missense variant	-	NC_000014.9:g.94769922G>A	ExAC,TOPMed,gnomAD
GSC	P56915	p.Val33Ile	rs1478894684	missense variant	-	NC_000014.9:g.94769919C>T	TOPMed
GSC	P56915	p.Val34Ile	rs1348239887	missense variant	-	NC_000014.9:g.94769916C>T	TOPMed,gnomAD
GSC	P56915	p.Pro36Gln	rs1245276938	missense variant	-	NC_000014.9:g.94769909G>T	gnomAD
GSC	P56915	p.Ala37Asp	rs1350971326	missense variant	-	NC_000014.9:g.94769906G>T	TOPMed
GSC	P56915	p.Leu38Met	rs1451984437	missense variant	-	NC_000014.9:g.94769904G>T	TOPMed,gnomAD
GSC	P56915	p.Gly40Arg	rs771101600	missense variant	-	NC_000014.9:g.94769898C>T	ExAC,TOPMed,gnomAD
GSC	P56915	p.Gly40Glu	rs1220047294	missense variant	-	NC_000014.9:g.94769897C>T	TOPMed
GSC	P56915	p.Gly40Arg	rs771101600	missense variant	-	NC_000014.9:g.94769898C>G	ExAC,TOPMed,gnomAD
GSC	P56915	p.Asp41Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94769895C>T	NCI-TCGA
GSC	P56915	p.Gly45Asp	rs1292028524	missense variant	-	NC_000014.9:g.94769882C>T	TOPMed
GSC	P56915	p.Gly45Cys	rs1216243523	missense variant	-	NC_000014.9:g.94769883C>A	TOPMed
GSC	P56915	p.Ala46Asp	rs777988148	missense variant	-	NC_000014.9:g.94769879G>T	ExAC,gnomAD
GSC	P56915	p.Ala46Ser	rs747295443	missense variant	-	NC_000014.9:g.94769880C>A	ExAC,TOPMed,gnomAD
GSC	P56915	p.Ala46Thr	rs747295443	missense variant	-	NC_000014.9:g.94769880C>T	ExAC,TOPMed,gnomAD
GSC	P56915	p.Gly48Asp	rs772555300	missense variant	-	NC_000014.9:g.94769873C>T	ExAC,TOPMed,gnomAD
GSC	P56915	p.Gly49Cys	rs531310446	missense variant	-	NC_000014.9:g.94769871C>A	1000Genomes,ExAC,TOPMed,gnomAD
GSC	P56915	p.Gly49Ser	rs531310446	missense variant	-	NC_000014.9:g.94769871C>T	1000Genomes,ExAC,TOPMed,gnomAD
GSC	P56915	p.Gly49Val	rs1489394553	missense variant	-	NC_000014.9:g.94769870C>A	TOPMed
GSC	P56915	p.Ser51Phe	rs1476920780	missense variant	-	NC_000014.9:g.94769864G>A	TOPMed
GSC	P56915	p.Ser51Pro	rs1444877483	missense variant	-	NC_000014.9:g.94769865A>G	gnomAD
GSC	P56915	p.Asp53His	rs1283160997	missense variant	-	NC_000014.9:g.94769859C>G	gnomAD
GSC	P56915	p.Asp53Val	rs1165043427	missense variant	-	NC_000014.9:g.94769858T>A	TOPMed
GSC	P56915	p.Tyr54Ser	rs755567297	missense variant	-	NC_000014.9:g.94769855T>G	ExAC,TOPMed,gnomAD
GSC	P56915	p.Arg60Leu	rs1298497051	missense variant	-	NC_000014.9:g.94769837C>A	TOPMed
GSC	P56915	p.Pro64Ser	rs572177972	missense variant	-	NC_000014.9:g.94769826G>A	1000Genomes
GSC	P56915	p.Gly65Ser	rs1324470038	missense variant	-	NC_000014.9:g.94769823C>T	gnomAD
GSC	P56915	p.Gly66Ter	RCV000114411	frameshift	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)	NC_000014.9:g.94769810_94769826del	ClinVar
GSC	P56915	p.Ala67Ser	rs1364172180	missense variant	-	NC_000014.9:g.94769817C>A	gnomAD
GSC	P56915	p.Ala72Thr	rs145932252	missense variant	-	NC_000014.9:g.94769802C>T	1000Genomes,ExAC,TOPMed,gnomAD
GSC	P56915	p.Ser74Asn	rs1217058294	missense variant	-	NC_000014.9:g.94769795C>T	TOPMed
GSC	P56915	p.Gly75Ala	rs1487417555	missense variant	-	NC_000014.9:g.94769792C>G	TOPMed
GSC	P56915	p.Gly75Arg	rs761600442	missense variant	-	NC_000014.9:g.94769793C>G	ExAC,TOPMed,gnomAD
GSC	P56915	p.Gly75Ser	rs761600442	missense variant	-	NC_000014.9:g.94769793C>T	ExAC,TOPMed,gnomAD
GSC	P56915	p.Arg77His	rs751365495	missense variant	-	NC_000014.9:g.94769786C>T	ExAC,gnomAD
GSC	P56915	p.Arg77Cys	rs1189735421	missense variant	-	NC_000014.9:g.94769787G>A	TOPMed
GSC	P56915	p.Arg77Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94769786C>A	NCI-TCGA
GSC	P56915	p.Gly79Cys	rs1472761671	missense variant	-	NC_000014.9:g.94769781C>A	TOPMed
GSC	P56915	p.Phe84Tyr	rs1382690744	missense variant	-	NC_000014.9:g.94769765A>T	TOPMed
GSC	P56915	p.Gly86Trp	rs951684427	missense variant	-	NC_000014.9:g.94769760C>A	TOPMed
GSC	P56915	p.His89Gln	rs1380125441	missense variant	-	NC_000014.9:g.94769749G>C	TOPMed
GSC	P56915	p.His89Tyr	rs1304027611	missense variant	-	NC_000014.9:g.94769751G>A	TOPMed,gnomAD
GSC	P56915	p.Val90Ala	rs866018623	missense variant	-	NC_000014.9:g.94769747A>G	TOPMed
GSC	P56915	p.Pro94Leu	rs574191507	missense variant	-	NC_000014.9:g.94769735G>A	1000Genomes,gnomAD
GSC	P56915	p.Val95Gly	rs1446632653	missense variant	-	NC_000014.9:g.94769732A>C	TOPMed
GSC	P56915	p.Val95Met	rs1342735228	missense variant	-	NC_000014.9:g.94769733C>T	gnomAD
GSC	P56915	p.Gly96Ala	rs776660853	missense variant	-	NC_000014.9:g.94769729C>G	ExAC,gnomAD
GSC	P56915	p.Ala98Thr	rs1338888397	missense variant	-	NC_000014.9:g.94769724C>T	TOPMed,gnomAD
GSC	P56915	p.Gly101Val	rs1407039749	missense variant	-	NC_000014.9:g.94769714C>A	gnomAD
GSC	P56915	p.Gly101Arg	rs1025867069	missense variant	-	NC_000014.9:g.94769715C>T	TOPMed,gnomAD
GSC	P56915	p.Gly101Arg	rs1025867069	missense variant	-	NC_000014.9:g.94769715C>G	TOPMed,gnomAD
GSC	P56915	p.Ala102Pro	rs1344004949	missense variant	-	NC_000014.9:g.94769712C>G	gnomAD
GSC	P56915	p.Val103Leu	rs771046649	missense variant	-	NC_000014.9:g.94769709C>A	ExAC,TOPMed,gnomAD
GSC	P56915	p.Val103Leu	rs771046649	missense variant	-	NC_000014.9:g.94769709C>G	ExAC,TOPMed,gnomAD
GSC	P56915	p.Pro104Gln	rs1356744173	missense variant	-	NC_000014.9:g.94769705G>T	gnomAD
GSC	P56915	p.Pro105Leu	rs1168976593	missense variant	-	NC_000014.9:g.94769702G>A	TOPMed,gnomAD
GSC	P56915	p.Gln109His	rs952294613	missense variant	-	NC_000014.9:g.94769689C>A	TOPMed
GSC	P56915	p.Gln109Ter	rs1407685841	stop gained	-	NC_000014.9:g.94769691G>A	gnomAD
GSC	P56915	p.Gln110His	rs1178440114	missense variant	-	NC_000014.9:g.94769686C>G	TOPMed
GSC	P56915	p.Gln110Ter	rs1440827298	stop gained	-	NC_000014.9:g.94769688G>A	TOPMed
GSC	P56915	p.Cys111Gly	rs1378776285	missense variant	-	NC_000014.9:g.94769685A>C	TOPMed
GSC	P56915	p.Cys113Arg	rs1468647753	missense variant	-	NC_000014.9:g.94769679A>G	TOPMed,gnomAD
GSC	P56915	p.Val114Ile	rs1481182094	missense variant	-	NC_000014.9:g.94769676C>T	gnomAD
GSC	P56915	p.Pro115Arg	rs1026972712	missense variant	-	NC_000014.9:g.94769672G>C	TOPMed,gnomAD
GSC	P56915	p.Pro115Leu	rs1026972712	missense variant	-	NC_000014.9:g.94769672G>A	TOPMed,gnomAD
GSC	P56915	p.Pro117Ala	rs972380535	missense variant	-	NC_000014.9:g.94769667G>C	TOPMed,gnomAD
GSC	P56915	p.Glu121Val	rs1380479580	missense variant	-	NC_000014.9:g.94769211T>A	gnomAD
GSC	P56915	p.Glu121Lys	rs749863959	missense variant	-	NC_000014.9:g.94769212C>T	ExAC,gnomAD
GSC	P56915	p.Gly122Ser	rs1317804947	missense variant	-	NC_000014.9:g.94769209C>T	TOPMed,gnomAD
GSC	P56915	p.Pro123Ser	rs755714120	missense variant	-	NC_000014.9:g.94769206G>A	ExAC,gnomAD
GSC	P56915	p.Val126Met	rs1335668055	missense variant	-	NC_000014.9:g.94769197C>T	gnomAD
GSC	P56915	p.Val128Leu	rs1454045075	missense variant	-	NC_000014.9:g.94769191C>A	gnomAD
GSC	P56915	p.Val128Leu	rs1454045075	missense variant	-	NC_000014.9:g.94769191C>G	gnomAD
GSC	P56915	p.Ser129Phe	rs1156583612	missense variant	-	NC_000014.9:g.94769187G>A	gnomAD
GSC	P56915	p.Ser129Ala	rs1346612042	missense variant	-	NC_000014.9:g.94769188A>C	gnomAD
GSC	P56915	p.Ser129Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94769188A>G	NCI-TCGA
GSC	P56915	p.Pro130Gln	rs1185392823	missense variant	-	NC_000014.9:g.94769184G>T	gnomAD
GSC	P56915	p.Pro130Ala	rs1385729985	missense variant	-	NC_000014.9:g.94769185G>C	gnomAD
GSC	P56915	p.Val131Gly	rs1242676736	missense variant	-	NC_000014.9:g.94769181A>C	gnomAD
GSC	P56915	p.Val131Leu	rs376420400	missense variant	-	NC_000014.9:g.94769182C>A	ESP,ExAC,TOPMed,gnomAD
GSC	P56915	p.His133Pro	rs1187203180	missense variant	-	NC_000014.9:g.94769175T>G	gnomAD
GSC	P56915	p.His133Gln	rs919228928	missense variant	-	NC_000014.9:g.94769174G>T	TOPMed,gnomAD
GSC	P56915	p.Gln134Lys	rs587777289	missense variant	-	NC_000014.9:g.94769173G>T	gnomAD
GSC	P56915	p.Gln134Ter	rs587777289	stop gained	-	NC_000014.9:g.94769173G>A	gnomAD
GSC	P56915	p.Gln134Ter	RCV000114412	nonsense	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS)	NC_000014.9:g.94769173G>A	ClinVar
GSC	P56915	p.Met139Ile	rs1294547935	missense variant	-	NC_000014.9:g.94769156C>T	gnomAD
GSC	P56915	p.Met139Val	rs756880471	missense variant	-	NC_000014.9:g.94769158T>C	ExAC,gnomAD
GSC	P56915	p.Met139Thr	rs751314200	missense variant	-	NC_000014.9:g.94769157A>G	ExAC,TOPMed,gnomAD
GSC	P56915	p.Met139Leu	rs756880471	missense variant	-	NC_000014.9:g.94769158T>G	ExAC,gnomAD
GSC	P56915	p.Thr143Met	rs752698866	missense variant	-	NC_000014.9:g.94769145G>A	ExAC,gnomAD
GSC	P56915	p.Ser145Thr	rs916846613	missense variant	-	NC_000014.9:g.94769140A>T	TOPMed
GSC	P56915	p.Arg146His	rs765091352	missense variant	-	NC_000014.9:g.94769136C>T	ExAC,gnomAD
GSC	P56915	p.Arg146Gly	rs1286775634	missense variant	-	NC_000014.9:g.94769137G>C	gnomAD
GSC	P56915	p.Thr147Ala	rs990862083	missense variant	-	NC_000014.9:g.94769134T>C	TOPMed
GSC	P56915	p.Glu148Lys	rs527327953	missense variant	-	NC_000014.9:g.94769131C>T	1000Genomes,ExAC,TOPMed,gnomAD
GSC	P56915	p.Gln150His	rs767740982	missense variant	-	NC_000014.9:g.94769123C>G	ExAC,gnomAD
GSC	P56915	p.Gln154Arg	rs1430405915	missense variant	-	NC_000014.9:g.94769112T>C	gnomAD
GSC	P56915	p.Gln154His	rs149410963	missense variant	-	NC_000014.9:g.94769111C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSC	P56915	p.Gln154His	rs149410963	missense variant	-	NC_000014.9:g.94769111C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSC	P56915	p.His156Arg	rs1490614477	missense variant	-	NC_000014.9:g.94769106T>C	TOPMed,gnomAD
GSC	P56915	p.His156Leu	rs1490614477	missense variant	-	NC_000014.9:g.94769106T>A	TOPMed,gnomAD
GSC	P56915	p.Arg158Trp	rs765088049	missense variant	-	NC_000014.9:g.94769101G>A	TOPMed,gnomAD
GSC	P56915	p.Arg159Gln	rs1220736807	missense variant	-	NC_000014.9:g.94769097C>T	TOPMed,gnomAD
GSC	P56915	p.Arg159Leu	rs1220736807	missense variant	-	NC_000014.9:g.94769097C>A	TOPMed,gnomAD
GSC	P56915	p.Arg159Trp	COSM3690263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94769098G>A	NCI-TCGA Cosmic
GSC	P56915	p.Arg161Trp	rs1359265713	missense variant	-	NC_000014.9:g.94769092G>A	gnomAD
GSC	P56915	p.His163Arg	rs966481476	missense variant	-	NC_000014.9:g.94769085T>C	TOPMed,gnomAD
GSC	P56915	p.Arg164Gly	rs1478883993	missense variant	-	NC_000014.9:g.94769083G>C	TOPMed
GSC	P56915	p.Thr165Ile	rs1399080377	missense variant	-	NC_000014.9:g.94769079G>A	gnomAD
GSC	P56915	p.Ile166Val	rs1304664618	missense variant	-	NC_000014.9:g.94769077T>C	gnomAD
GSC	P56915	p.Asp169Gly	rs1408647165	missense variant	-	NC_000014.9:g.94769067T>C	TOPMed
GSC	P56915	p.Glu170Gly	rs1475607815	missense variant	-	NC_000014.9:g.94769064T>C	TOPMed,gnomAD
GSC	P56915	p.Glu170Val	rs1475607815	missense variant	-	NC_000014.9:g.94769064T>A	TOPMed,gnomAD
GSC	P56915	p.Leu172Arg	COSM1371840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94769058A>C	NCI-TCGA Cosmic
GSC	P56915	p.Glu173Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94769056C>T	NCI-TCGA
GSC	P56915	p.Ala174Thr	rs1298728944	missense variant	-	NC_000014.9:g.94769053C>T	TOPMed,gnomAD
GSC	P56915	p.Ala174Gly	rs1436180696	missense variant	-	NC_000014.9:g.94769052G>C	TOPMed
GSC	P56915	p.Leu175Phe	rs1463563715	missense variant	-	NC_000014.9:g.94769050G>A	gnomAD
GSC	P56915	p.Glu176Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94769045C>A	NCI-TCGA
GSC	P56915	p.Asn177Thr	rs1241350234	missense variant	-	NC_000014.9:g.94769043T>G	gnomAD
GSC	P56915	p.Leu178Val	rs1169991794	missense variant	-	NC_000014.9:g.94769041G>C	gnomAD
GSC	P56915	p.Leu178Phe	rs1169991794	missense variant	-	NC_000014.9:g.94769041G>A	gnomAD
GSC	P56915	p.Glu181Lys	rs1431721337	missense variant	-	NC_000014.9:g.94769032C>T	TOPMed,gnomAD
GSC	P56915	p.Asp186Glu	rs777531321	missense variant	-	NC_000014.9:g.94769015G>C	ExAC,TOPMed,gnomAD
GSC	P56915	p.Val187Leu	rs369844550	missense variant	-	NC_000014.9:g.94769014C>A	ESP,gnomAD
GSC	P56915	p.Val187Leu	rs369844550	missense variant	-	NC_000014.9:g.94769014C>G	ESP,gnomAD
GSC	P56915	p.Thr189Ala	rs562169265	missense variant	-	NC_000014.9:g.94769008T>C	1000Genomes,ExAC,gnomAD
GSC	P56915	p.Thr189Met	rs1217492242	missense variant	-	NC_000014.9:g.94769007G>A	gnomAD
GSC	P56915	p.Arg190Ser	rs1291786221	missense variant	-	NC_000014.9:g.94769005G>T	TOPMed
GSC	P56915	p.Glu191Lys	rs750487062	missense variant	-	NC_000014.9:g.94769002C>T	ExAC,gnomAD
GSC	P56915	p.Glu191Gln	rs750487062	missense variant	-	NC_000014.9:g.94769002C>G	ExAC,gnomAD
GSC	P56915	p.Ala194Thr	rs1307614548	missense variant	-	NC_000014.9:g.94768993C>T	gnomAD
GSC	P56915	p.Ala194Gly	rs1289945233	missense variant	-	NC_000014.9:g.94768992G>C	TOPMed
GSC	P56915	p.Ala194Val	rs1289945233	missense variant	-	NC_000014.9:g.94768992G>A	TOPMed
GSC	P56915	p.Arg195Gln	rs1393127035	missense variant	-	NC_000014.9:g.94768989C>T	gnomAD
GSC	P56915	p.Val197Ala	rs1297615827	missense variant	-	NC_000014.9:g.94768983A>G	gnomAD
GSC	P56915	p.Val197Ala	rs1297615827	missense variant	-	NC_000014.9:g.94768983A>G	NCI-TCGA Cosmic
GSC	P56915	p.His198Tyr	rs1470361138	missense variant	-	NC_000014.9:g.94768981G>A	gnomAD
GSC	P56915	p.Arg200His	rs774777528	missense variant	-	NC_000014.9:g.94768974C>T	ExAC,TOPMed,gnomAD
GSC	P56915	p.Arg200Leu	rs774777528	missense variant	-	NC_000014.9:g.94768974C>A	ExAC,TOPMed,gnomAD
GSC	P56915	p.Arg200His	rs774777528	missense variant	-	NC_000014.9:g.94768974C>T	NCI-TCGA Cosmic
GSC	P56915	p.Glu201Ter	rs1174607751	stop gained	-	NC_000014.9:g.94768972C>A	gnomAD
GSC	P56915	p.Glu201Lys	COSM1371839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94768972C>T	NCI-TCGA Cosmic
GSC	P56915	p.Glu202Asp	rs376810813	missense variant	-	NC_000014.9:g.94768967C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GSC	P56915	p.Val204Glu	rs763348360	missense variant	-	NC_000014.9:g.94768962A>T	ExAC,gnomAD
GSC	P56915	p.Arg211His	rs1360367196	missense variant	-	NC_000014.9:g.94768633C>T	gnomAD
GSC	P56915	p.Arg212Gly	rs1427043700	missense variant	-	NC_000014.9:g.94768631G>C	gnomAD
GSC	P56915	p.Arg212His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94768630C>T	NCI-TCGA
GSC	P56915	p.Ala213Ser	rs1160908761	missense variant	-	NC_000014.9:g.94768628C>A	TOPMed,gnomAD
GSC	P56915	p.Ala213Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94768627G>C	NCI-TCGA
GSC	P56915	p.Gln218Pro	rs778759721	missense variant	-	NC_000014.9:g.94768612T>G	ExAC,gnomAD
GSC	P56915	p.Gln218Arg	rs778759721	missense variant	-	NC_000014.9:g.94768612T>C	ExAC,gnomAD
GSC	P56915	p.Gln218Ter	rs1472190021	stop gained	-	NC_000014.9:g.94768613G>A	gnomAD
GSC	P56915	p.Arg220Gly	rs768406079	missense variant	-	NC_000014.9:g.94768607G>C	ExAC,gnomAD
GSC	P56915	p.Ser223Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94768597G>A	NCI-TCGA
GSC	P56915	p.Ser226Ter	rs1459306477	stop gained	-	NC_000014.9:g.94768588G>T	TOPMed
GSC	P56915	p.Asn228Ser	rs1361458704	missense variant	-	NC_000014.9:g.94768582T>C	TOPMed,gnomAD
GSC	P56915	p.Ala229Ser	rs543612146	missense variant	-	NC_000014.9:g.94768580C>A	1000Genomes,ExAC,gnomAD
GSC	P56915	p.Glu230Gly	rs751647283	missense variant	-	NC_000014.9:g.94768576T>C	ExAC,TOPMed,gnomAD
GSC	P56915	p.Lys231Arg	rs778037023	missense variant	-	NC_000014.9:g.94768573T>C	ExAC,gnomAD
GSC	P56915	p.Trp232Ter	rs1300142965	stop gained	-	NC_000014.9:g.94768569C>T	TOPMed
GSC	P56915	p.Trp232Ter	rs1300142965	stop gained	-	NC_000014.9:g.94768569C>T	NCI-TCGA Cosmic
GSC	P56915	p.Asn233Lys	rs1304063152	missense variant	-	NC_000014.9:g.94768566G>T	gnomAD
GSC	P56915	p.Asn233Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94768568T>A	NCI-TCGA
GSC	P56915	p.Lys234Arg	rs758669591	missense variant	-	NC_000014.9:g.94768564T>C	ExAC,gnomAD
GSC	P56915	p.Lys234Glu	rs1407179343	missense variant	-	NC_000014.9:g.94768565T>C	gnomAD
GSC	P56915	p.Ser236Leu	rs759761613	missense variant	-	NC_000014.9:g.94768558G>A	NCI-TCGA
GSC	P56915	p.Ser236Ter	rs759761613	stop gained	-	NC_000014.9:g.94768558G>T	ExAC,gnomAD
GSC	P56915	p.Ser236Leu	rs759761613	missense variant	-	NC_000014.9:g.94768558G>A	ExAC,gnomAD
GSC	P56915	p.Ala240Val	rs1422472460	missense variant	-	NC_000014.9:g.94768546G>A	NCI-TCGA
GSC	P56915	p.Ala240Val	rs1422472460	missense variant	-	NC_000014.9:g.94768546G>A	gnomAD
GSC	P56915	p.Ser241Ter	rs761213502	stop gained	-	NC_000014.9:g.94768543G>T	ExAC,gnomAD
GSC	P56915	p.Pro242Ala	rs1220834068	missense variant	-	NC_000014.9:g.94768541G>C	gnomAD
GSC	P56915	p.Glu246Asp	rs773813335	missense variant	-	NC_000014.9:g.94768527T>A	ExAC,gnomAD
GSC	P56915	p.Glu246Asp	rs773813335	missense variant	-	NC_000014.9:g.94768527T>G	ExAC,gnomAD
GSC	P56915	p.Glu246Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94768529C>T	NCI-TCGA
GSC	P56915	p.Glu247Asp	rs199891655	missense variant	-	NC_000014.9:g.94768524C>G	1000Genomes,ExAC,TOPMed,gnomAD
GSC	P56915	p.Glu247Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.94768524C>A	NCI-TCGA
GSC	P56915	p.Glu248Asp	rs1284191040	missense variant	-	NC_000014.9:g.94768521T>G	TOPMed,gnomAD
GSC	P56915	p.Glu248Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.94768523C>A	NCI-TCGA
GSC	P56915	p.Gly249Asp	rs748984329	missense variant	-	NC_000014.9:g.94768519C>T	ExAC,gnomAD
GSC	P56915	p.Lys250Arg	COSM3499480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94768516T>C	NCI-TCGA Cosmic
GSC	P56915	p.Ser251Asn	rs1344067407	missense variant	-	NC_000014.9:g.94768513C>T	gnomAD
GSC	P56915	p.Asp252Tyr	rs780023183	missense variant	-	NC_000014.9:g.94768511C>A	ExAC,TOPMed,gnomAD
GSC	P56915	p.Leu253Trp	rs1443629216	missense variant	-	NC_000014.9:g.94768507A>C	gnomAD
GSC	P56915	p.Leu253Phe	COSM1323312	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94768506C>G	NCI-TCGA Cosmic
GSC	P56915	p.Asp254Gly	rs1485930466	missense variant	-	NC_000014.9:g.94768504T>C	TOPMed
HSD17B7	P56937	p.Arg2Ter	rs778918459	stop gained	-	NC_000001.11:g.162790804C>T	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Arg2Gly	rs778918459	missense variant	-	NC_000001.11:g.162790804C>G	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Val4Ala	rs1224870633	missense variant	-	NC_000001.11:g.162790811T>C	gnomAD
HSD17B7	P56937	p.Ile7Leu	rs1339594346	missense variant	-	NC_000001.11:g.162790819A>C	gnomAD
HSD17B7	P56937	p.Thr8Ser	rs138228498	missense variant	-	NC_000001.11:g.162790823C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Gly9Val	rs780864653	missense variant	-	NC_000001.11:g.162790826G>T	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ser11Thr	rs116929795	missense variant	-	NC_000001.11:g.162790832G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ser11Gly	rs769592375	missense variant	-	NC_000001.11:g.162790831A>G	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ser12Asn	rs762552227	missense variant	-	NC_000001.11:g.162790835G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Gly13Asp	rs1458530307	missense variant	-	NC_000001.11:g.162792661G>A	TOPMed,gnomAD
HSD17B7	P56937	p.Leu16Val	rs748791077	missense variant	-	NC_000001.11:g.162792669C>G	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ala17Val	rs747429092	missense variant	-	NC_000001.11:g.162792673C>T	ExAC,gnomAD
HSD17B7	P56937	p.Cys19Gly	rs577874939	missense variant	-	NC_000001.11:g.162792678T>G	1000Genomes,ExAC,gnomAD
HSD17B7	P56937	p.Lys20Asn	rs1261720715	missense variant	-	NC_000001.11:g.162792683G>C	gnomAD
HSD17B7	P56937	p.Lys20Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.162792681A>T	NCI-TCGA
HSD17B7	P56937	p.Arg21Gln	rs1202072484	missense variant	-	NC_000001.11:g.162792685G>A	TOPMed,gnomAD
HSD17B7	P56937	p.Arg21Trp	rs543708667	missense variant	-	NC_000001.11:g.162792684C>T	1000Genomes,ExAC,gnomAD
HSD17B7	P56937	p.Arg21Leu	rs1202072484	missense variant	-	NC_000001.11:g.162792685G>T	TOPMed,gnomAD
HSD17B7	P56937	p.Leu23Met	rs773491571	missense variant	-	NC_000001.11:g.162792690C>A	ExAC,gnomAD
HSD17B7	P56937	p.Leu23Pro	rs1303238868	missense variant	-	NC_000001.11:g.162792691T>C	TOPMed,gnomAD
HSD17B7	P56937	p.Ala24Val	rs373109770	missense variant	-	NC_000001.11:g.162792694C>T	NCI-TCGA
HSD17B7	P56937	p.Ala24Val	rs373109770	missense variant	-	NC_000001.11:g.162792694C>T	ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu28Gln	rs752373083	missense variant	-	NC_000001.11:g.162792705G>C	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu28Lys	rs752373083	missense variant	-	NC_000001.11:g.162792705G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Leu29Phe	rs376077033	missense variant	-	NC_000001.11:g.162792708C>T	ESP,ExAC,gnomAD
HSD17B7	P56937	p.His30Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162792713T>A	NCI-TCGA
HSD17B7	P56937	p.Ala34Pro	rs1330410584	missense variant	-	NC_000001.11:g.162792723G>C	TOPMed
HSD17B7	P56937	p.Ala34Val	rs748999552	missense variant	-	NC_000001.11:g.162792724C>T	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Cys35Gly	rs1304123778	missense variant	-	NC_000001.11:g.162792726T>G	gnomAD
HSD17B7	P56937	p.Arg36Gly	rs372712048	missense variant	-	NC_000001.11:g.162792729A>G	ESP,TOPMed,gnomAD
HSD17B7	P56937	p.Met38Leu	rs778250388	missense variant	-	NC_000001.11:g.162792735A>C	ExAC,gnomAD
HSD17B7	P56937	p.Met38Val	rs778250388	missense variant	-	NC_000001.11:g.162792735A>G	ExAC,gnomAD
HSD17B7	P56937	p.Met38Arg	rs1391389687	missense variant	-	NC_000001.11:g.162792736T>G	gnomAD
HSD17B7	P56937	p.Lys40Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162792743G>C	NCI-TCGA
HSD17B7	P56937	p.Cys45Tyr	rs140205611	missense variant	-	NC_000001.11:g.162792757G>A	ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Cys45Ser	rs140205611	missense variant	-	NC_000001.11:g.162792757G>C	ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ala46Ser	rs1222074190	missense variant	-	NC_000001.11:g.162792759G>T	gnomAD
HSD17B7	P56937	p.Leu49Arg	rs1324565073	missense variant	-	NC_000001.11:g.162792769T>G	TOPMed,gnomAD
HSD17B7	P56937	p.His52Arg	rs1212485748	missense variant	-	NC_000001.11:g.162792778A>G	gnomAD
HSD17B7	P56937	p.Pro53Ser	rs748509639	missense variant	-	NC_000001.11:g.162792780C>T	ExAC,gnomAD
HSD17B7	P56937	p.Ala55Thr	rs1480349246	missense variant	-	NC_000001.11:g.162792786G>A	gnomAD
HSD17B7	P56937	p.Val57Ile	rs770185985	missense variant	-	NC_000001.11:g.162792792G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Val57Leu	rs770185985	missense variant	-	NC_000001.11:g.162792792G>C	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Thr58Ala	rs889485276	missense variant	-	NC_000001.11:g.162792795A>G	TOPMed
HSD17B7	P56937	p.Ile59Val	rs1007812807	missense variant	-	NC_000001.11:g.162792798A>G	TOPMed
HSD17B7	P56937	p.Ile59Met	rs181183638	missense variant	-	NC_000001.11:g.162792800T>G	1000Genomes,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Gln61Ter	rs1196033356	stop gained	-	NC_000001.11:g.162792804C>T	TOPMed
HSD17B7	P56937	p.Gln61Arg	rs771215070	missense variant	-	NC_000001.11:g.162792805A>G	ExAC
HSD17B7	P56937	p.Asn66Ser	rs1247761784	missense variant	-	NC_000001.11:g.162792820A>G	TOPMed
HSD17B7	P56937	p.Ser69Leu	rs1370898605	missense variant	-	NC_000001.11:g.162792829C>T	TOPMed,gnomAD
HSD17B7	P56937	p.Arg72Trp	rs763935491	missense variant	-	NC_000001.11:g.162792837C>T	ExAC,gnomAD
HSD17B7	P56937	p.Arg72Gln	rs1403586392	missense variant	-	NC_000001.11:g.162792838G>A	gnomAD
HSD17B7	P56937	p.Arg72Gln	rs1403586392	missense variant	-	NC_000001.11:g.162792838G>A	NCI-TCGA Cosmic
HSD17B7	P56937	p.Ser74Cys	rs756796880	missense variant	-	NC_000001.11:g.162792844C>G	ExAC,gnomAD
HSD17B7	P56937	p.Ser74Cys	rs756796880	missense variant	-	NC_000001.11:g.162792844C>G	NCI-TCGA
HSD17B7	P56937	p.Lys75Glu	rs778641456	missense variant	-	NC_000001.11:g.162792846A>G	ExAC,gnomAD
HSD17B7	P56937	p.Glu76Lys	rs1221222889	missense variant	-	NC_000001.11:g.162792849G>A	gnomAD
HSD17B7	P56937	p.Glu76Gly	rs749888119	missense variant	-	NC_000001.11:g.162792850A>G	ExAC,gnomAD
HSD17B7	P56937	p.Lys78Arg	rs963632785	missense variant	-	NC_000001.11:g.162792856A>G	TOPMed,gnomAD
HSD17B7	P56937	p.Gln79Ter	rs781521567	stop gained	-	NC_000001.11:g.162792858C>T	ExAC,gnomAD
HSD17B7	P56937	p.Gln79Arg	rs149698797	missense variant	-	NC_000001.11:g.162792859A>G	ESP,TOPMed
HSD17B7	P56937	p.Arg80Thr	rs1319620430	missense variant	-	NC_000001.11:g.162792862G>C	TOPMed
HSD17B7	P56937	p.Arg80Ser	rs139465501	missense variant	-	NC_000001.11:g.162796585G>C	ESP,TOPMed,gnomAD
HSD17B7	P56937	p.Arg80Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162792862G>T	NCI-TCGA
HSD17B7	P56937	p.Phe81Cys	COSM4024618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162796587T>G	NCI-TCGA Cosmic
HSD17B7	P56937	p.Cys86Gly	rs779488692	missense variant	-	NC_000001.11:g.162796601T>G	ExAC,gnomAD
HSD17B7	P56937	p.Ile87Met	rs1287101952	missense variant	-	NC_000001.11:g.162796606A>G	TOPMed
HSD17B7	P56937	p.Ile87Val	rs888715942	missense variant	-	NC_000001.11:g.162796604A>G	TOPMed
HSD17B7	P56937	p.Tyr88Cys	rs751099503	missense variant	-	NC_000001.11:g.162796608A>G	ExAC,gnomAD
HSD17B7	P56937	p.Gly92Arg	rs756546235	missense variant	-	NC_000001.11:g.162796619G>C	ExAC,gnomAD
HSD17B7	P56937	p.Gly92Trp	rs756546235	missense variant	-	NC_000001.11:g.162796619G>T	ExAC,gnomAD
HSD17B7	P56937	p.Ile93Thr	rs1004761907	missense variant	-	NC_000001.11:g.162796623T>C	TOPMed,gnomAD
HSD17B7	P56937	p.Met94Val	rs142312007	missense variant	-	NC_000001.11:g.162796625A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Met94Lys	rs1277689870	missense variant	-	NC_000001.11:g.162796626T>A	gnomAD
HSD17B7	P56937	p.Pro97Ala	rs771390638	missense variant	-	NC_000001.11:g.162796634C>G	ExAC,gnomAD
HSD17B7	P56937	p.Pro97Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162796635C>T	NCI-TCGA
HSD17B7	P56937	p.Gln98Arg	rs1289944497	missense variant	-	NC_000001.11:g.162796638A>G	gnomAD
HSD17B7	P56937	p.Ala103Thr	rs772217944	missense variant	-	NC_000001.11:g.162796652G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Phe105Leu	COSM898800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162796660C>A	NCI-TCGA Cosmic
HSD17B7	P56937	p.Leu108His	rs775648816	missense variant	-	NC_000001.11:g.162796668T>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Leu108Pro	rs775648816	missense variant	-	NC_000001.11:g.162796668T>C	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Leu108Phe	rs1278790389	missense variant	-	NC_000001.11:g.162796667C>T	gnomAD
HSD17B7	P56937	p.Ser110Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162796674C>T	NCI-TCGA
HSD17B7	P56937	p.Arg111Ile	COSM4830624	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162796677G>T	NCI-TCGA Cosmic
HSD17B7	P56937	p.Met116Ile	rs199782980	missense variant	-	NC_000001.11:g.162797817G>A	TOPMed
HSD17B7	P56937	p.Met116Val	rs779298649	missense variant	-	NC_000001.11:g.162797815A>G	ExAC,gnomAD
HSD17B7	P56937	p.Phe117Leu	rs1360942285	missense variant	-	NC_000001.11:g.162797820C>A	TOPMed
HSD17B7	P56937	p.Ser118Tyr	rs746226895	missense variant	-	NC_000001.11:g.162797822C>A	ExAC,TOPMed
HSD17B7	P56937	p.Thr119Ala	rs368354621	missense variant	-	NC_000001.11:g.162797824A>G	ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ala120Asp	COSM898801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162797828C>A	NCI-TCGA Cosmic
HSD17B7	P56937	p.Gly122Asp	rs1384999939	missense variant	-	NC_000001.11:g.162797834G>A	gnomAD
HSD17B7	P56937	p.Thr125Ile	rs143124291	missense variant	-	NC_000001.11:g.162797843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Gln126His	rs747081962	missense variant	-	NC_000001.11:g.162797847G>C	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Gly127Val	rs768897372	missense variant	-	NC_000001.11:g.162797849G>T	ExAC,gnomAD
HSD17B7	P56937	p.Asp128Val	rs1167435653	missense variant	-	NC_000001.11:g.162797852A>T	gnomAD
HSD17B7	P56937	p.Val138Ala	rs748071862	missense variant	-	NC_000001.11:g.162797882T>C	ExAC,gnomAD
HSD17B7	P56937	p.Phe139Leu	rs1428302112	missense variant	-	NC_000001.11:g.162797884T>C	TOPMed
HSD17B7	P56937	p.Glu140Ala	rs772991812	missense variant	-	NC_000001.11:g.162797888A>C	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu140Gln	rs769649157	missense variant	-	NC_000001.11:g.162797887G>C	ExAC,gnomAD
HSD17B7	P56937	p.Asn142Tyr	rs2257864	missense variant	-	NC_000001.11:g.162797893A>T	TOPMed
HSD17B7	P56937	p.Asn142His	rs2257864	missense variant	-	NC_000001.11:g.162797893A>C	TOPMed
HSD17B7	P56937	p.Asn142Asp	rs2257864	missense variant	-	NC_000001.11:g.162797893A>G	TOPMed
HSD17B7	P56937	p.Ile148Phe	rs1428189337	missense variant	-	NC_000001.11:g.162797911A>T	gnomAD
HSD17B7	P56937	p.Ile148Val	rs1428189337	missense variant	-	NC_000001.11:g.162797911A>G	gnomAD
HSD17B7	P56937	p.Leu149Pro	rs370157486	missense variant	-	NC_000001.11:g.162797915T>C	ESP,ExAC,gnomAD
HSD17B7	P56937	p.Ile150Met	rs760162468	missense variant	-	NC_000001.11:g.162799745T>G	ExAC,gnomAD
HSD17B7	P56937	p.Arg151Gln	rs756309267	missense variant	-	NC_000001.11:g.162799747G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Arg151Trp	rs765770658	missense variant	-	NC_000001.11:g.162799746C>T	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu154Asp	rs1483611906	missense variant	-	NC_000001.11:g.162799757G>C	gnomAD
HSD17B7	P56937	p.Leu157Val	rs763391153	missense variant	-	NC_000001.11:g.162799764C>G	ExAC,gnomAD
HSD17B7	P56937	p.Leu157His	rs1258189084	missense variant	-	NC_000001.11:g.162799765T>A	gnomAD
HSD17B7	P56937	p.Leu157HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.162799762_162799780TCCTCTGTCACAGTGACAA>-	NCI-TCGA
HSD17B7	P56937	p.Ser160Gly	rs766803267	missense variant	-	NC_000001.11:g.162799773A>G	ExAC,gnomAD
HSD17B7	P56937	p.Asp161Gly	rs752006436	missense variant	-	NC_000001.11:g.162799777A>G	ExAC,gnomAD
HSD17B7	P56937	p.Asp161Glu	rs755181917	missense variant	-	NC_000001.11:g.162799778C>G	ExAC,gnomAD
HSD17B7	P56937	p.Asn162Ser	rs528471207	missense variant	-	NC_000001.11:g.162799780A>G	1000Genomes,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Gln165Ter	rs752804774	stop gained	-	NC_000001.11:g.162799788C>T	ExAC,gnomAD
HSD17B7	P56937	p.Gln165His	rs1376653937	missense variant	-	NC_000001.11:g.162799790G>C	TOPMed,gnomAD
HSD17B7	P56937	p.Gln165Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162799788C>G	NCI-TCGA
HSD17B7	P56937	p.Leu166Ile	rs1348532331	missense variant	-	NC_000001.11:g.162799791C>A	TOPMed
HSD17B7	P56937	p.Ile167Val	rs777734754	missense variant	-	NC_000001.11:g.162799794A>G	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ile167Leu	rs777734754	missense variant	-	NC_000001.11:g.162799794A>C	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ser170Leu	rs770876579	missense variant	-	NC_000001.11:g.162799804C>T	ExAC,gnomAD
HSD17B7	P56937	p.Arg172His	rs745677556	missense variant	-	NC_000001.11:g.162799810G>A	ExAC,gnomAD
HSD17B7	P56937	p.Arg172Cys	rs372923913	missense variant	-	NC_000001.11:g.162799809C>T	ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Arg172Leu	rs745677556	missense variant	-	NC_000001.11:g.162799810G>T	ExAC,gnomAD
HSD17B7	P56937	p.Ser173Asn	rs775073403	missense variant	-	NC_000001.11:g.162799813G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ala174Val	rs1350663171	missense variant	-	NC_000001.11:g.162799816C>T	TOPMed
HSD17B7	P56937	p.Ala174Thr	rs1312925755	missense variant	-	NC_000001.11:g.162799815G>A	gnomAD
HSD17B7	P56937	p.Arg175Met	rs1235553323	missense variant	-	NC_000001.11:g.162799819G>T	gnomAD
HSD17B7	P56937	p.Phe179Cys	rs1340032718	missense variant	-	NC_000001.11:g.162799831T>G	gnomAD
HSD17B7	P56937	p.Ser180Thr	rs776230521	missense variant	-	NC_000001.11:g.162799834G>C	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu182Lys	rs766995976	missense variant	-	NC_000001.11:g.162799839G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu182Ala	rs751912398	missense variant	-	NC_000001.11:g.162799840A>C	ExAC,gnomAD
HSD17B7	P56937	p.Glu182Ter	rs766995976	stop gained	-	NC_000001.11:g.162799839G>T	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Gln185Ter	rs1177656238	stop gained	-	NC_000001.11:g.162799848C>T	gnomAD
HSD17B7	P56937	p.His186Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162799851C>T	NCI-TCGA
HSD17B7	P56937	p.Gly189Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162799861G>A	NCI-TCGA
HSD17B7	P56937	p.Lys190Gln	rs1169778683	missense variant	-	NC_000001.11:g.162799863A>C	TOPMed,gnomAD
HSD17B7	P56937	p.Pro192Ser	rs752902389	missense variant	-	NC_000001.11:g.162799869C>T	ExAC,gnomAD
HSD17B7	P56937	p.Tyr193His	rs142760869	missense variant	-	NC_000001.11:g.162799872T>C	ESP
HSD17B7	P56937	p.Ser194Asn	rs756195832	missense variant	-	NC_000001.11:g.162799876G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Lys197Arg	rs1388708713	missense variant	-	NC_000001.11:g.162799885A>G	gnomAD
HSD17B7	P56937	p.Tyr198His	rs764029991	missense variant	-	NC_000001.11:g.162799887T>C	ExAC,gnomAD
HSD17B7	P56937	p.Ala199Thr	COSM4024619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162799890G>A	NCI-TCGA Cosmic
HSD17B7	P56937	p.Asp201Glu	rs757130488	missense variant	-	NC_000001.11:g.162799898C>A	ExAC,gnomAD
HSD17B7	P56937	p.Leu202Phe	rs376635741	missense variant	-	NC_000001.11:g.162799899C>T	ESP,ExAC,gnomAD
HSD17B7	P56937	p.Ser204Arg	rs374550756	missense variant	-	NC_000001.11:g.162799905A>C	ESP,ExAC,gnomAD
HSD17B7	P56937	p.Val205Glu	rs1209232726	missense variant	-	NC_000001.11:g.162799909T>A	TOPMed
HSD17B7	P56937	p.Ala206Ser	rs1219150287	missense variant	-	NC_000001.11:g.162799911G>T	gnomAD
HSD17B7	P56937	p.Leu207Met	rs758167858	missense variant	-	NC_000001.11:g.162799914T>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Phe211Ser	rs779739322	missense variant	-	NC_000001.11:g.162799927T>C	ExAC,gnomAD
HSD17B7	P56937	p.Asn212Ser	rs746597194	missense variant	-	NC_000001.11:g.162799930A>G	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Gln214Ter	rs1218394855	stop gained	-	NC_000001.11:g.162799935C>T	TOPMed
HSD17B7	P56937	p.Gln214Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162799935C>A	NCI-TCGA
HSD17B7	P56937	p.Gly215Val	rs901583968	missense variant	-	NC_000001.11:g.162803432G>T	TOPMed
HSD17B7	P56937	p.Tyr217Asp	COSM4829048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803437T>G	NCI-TCGA Cosmic
HSD17B7	P56937	p.Ser218Ala	rs751296658	missense variant	-	NC_000001.11:g.162803440T>G	ExAC,gnomAD
HSD17B7	P56937	p.Ser218Tyr	rs754866497	missense variant	-	NC_000001.11:g.162803441C>A	ExAC,gnomAD
HSD17B7	P56937	p.Asn219Ser	rs1477799364	missense variant	-	NC_000001.11:g.162803444A>G	TOPMed,gnomAD
HSD17B7	P56937	p.Val220Met	rs780957752	missense variant	-	NC_000001.11:g.162803446G>A	ExAC,gnomAD
HSD17B7	P56937	p.Val220Glu	rs752442127	missense variant	-	NC_000001.11:g.162803447T>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ala221Gly	rs1353849676	missense variant	-	NC_000001.11:g.162803450C>G	TOPMed
HSD17B7	P56937	p.Ala221Pro	rs1427327470	missense variant	-	NC_000001.11:g.162803449G>C	TOPMed,gnomAD
HSD17B7	P56937	p.Cys222Tyr	rs1436565170	missense variant	-	NC_000001.11:g.162803453G>A	gnomAD
HSD17B7	P56937	p.Cys222Arg	rs1005857756	missense variant	-	NC_000001.11:g.162803452T>C	TOPMed
HSD17B7	P56937	p.Cys222Ser	rs1436565170	missense variant	-	NC_000001.11:g.162803453G>C	gnomAD
HSD17B7	P56937	p.Thr225Ile	rs755852918	missense variant	-	NC_000001.11:g.162803462C>T	ExAC,gnomAD
HSD17B7	P56937	p.Thr225Ala	rs1166632802	missense variant	-	NC_000001.11:g.162803461A>G	TOPMed,gnomAD
HSD17B7	P56937	p.Leu227Ser	COSM4024620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803468T>C	NCI-TCGA Cosmic
HSD17B7	P56937	p.Leu227Phe	COSM898802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803469G>T	NCI-TCGA Cosmic
HSD17B7	P56937	p.Asn229Ser	rs780680589	missense variant	-	NC_000001.11:g.162803474A>G	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Asn229Asp	rs540197074	missense variant	-	NC_000001.11:g.162803473A>G	1000Genomes,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Leu230Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162803478G>T	NCI-TCGA
HSD17B7	P56937	p.Tyr232His	rs372913041	missense variant	-	NC_000001.11:g.162803482T>C	ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Gly233Ala	rs769059069	missense variant	-	NC_000001.11:g.162803486G>C	ExAC,gnomAD
HSD17B7	P56937	p.Pro236Leu	rs761986410	missense variant	-	NC_000001.11:g.162803495C>T	ExAC,gnomAD
HSD17B7	P56937	p.Pro237Leu	rs560193106	missense variant	-	NC_000001.11:g.162803498C>T	1000Genomes,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Pro237Ser	COSM3477490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803497C>T	NCI-TCGA Cosmic
HSD17B7	P56937	p.Ile239Thr	rs1199833908	missense variant	-	NC_000001.11:g.162803504T>C	gnomAD
HSD17B7	P56937	p.Thr241Ala	rs1248593979	missense variant	-	NC_000001.11:g.162803509A>G	TOPMed,gnomAD
HSD17B7	P56937	p.Thr241Met	rs148144473	missense variant	-	NC_000001.11:g.162803510C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Leu242Val	rs147380085	missense variant	-	NC_000001.11:g.162803512C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Leu242Met	rs147380085	missense variant	-	NC_000001.11:g.162803512C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Leu242Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162803513T>C	NCI-TCGA
HSD17B7	P56937	p.Met244Ile	rs755758553	missense variant	-	NC_000001.11:g.162803520G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Pro245Leu	rs563074340	missense variant	-	NC_000001.11:g.162803522C>T	1000Genomes,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ala246Thr	COSM898803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162803524G>A	NCI-TCGA Cosmic
HSD17B7	P56937	p.Ile247Val	rs927413092	missense variant	-	NC_000001.11:g.162803527A>G	TOPMed,gnomAD
HSD17B7	P56937	p.Leu248Phe	rs1331910859	missense variant	-	NC_000001.11:g.162803532G>C	TOPMed
HSD17B7	P56937	p.Leu250Phe	rs763624588	missense variant	-	NC_000001.11:g.162804267C>T	ExAC,gnomAD
HSD17B7	P56937	p.Arg251Cys	rs753578254	missense variant	-	NC_000001.11:g.162804270C>T	ExAC,gnomAD
HSD17B7	P56937	p.Arg251His	rs756882481	missense variant	-	NC_000001.11:g.162804271G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Phe253Leu	rs749944458	missense variant	-	NC_000001.11:g.162804278T>G	ExAC,gnomAD
HSD17B7	P56937	p.Phe253Ser	rs764764777	missense variant	-	NC_000001.11:g.162804277T>C	ExAC,gnomAD
HSD17B7	P56937	p.Ala254Pro	rs755424114	missense variant	-	NC_000001.11:g.162804279G>C	ExAC,gnomAD
HSD17B7	P56937	p.Ala254CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.162804272_162804273insT	NCI-TCGA
HSD17B7	P56937	p.Asn255Asp	rs907474898	missense variant	-	NC_000001.11:g.162804282A>G	TOPMed,gnomAD
HSD17B7	P56937	p.Thr258Ser	rs531919953	missense variant	-	NC_000001.11:g.162804291A>T	1000Genomes,ExAC,gnomAD
HSD17B7	P56937	p.Thr258Ile	COSM3477491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162804292C>T	NCI-TCGA Cosmic
HSD17B7	P56937	p.Pro261Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162804300C>T	NCI-TCGA
HSD17B7	P56937	p.Tyr262Cys	rs1471439243	missense variant	-	NC_000001.11:g.162804304A>G	gnomAD
HSD17B7	P56937	p.Tyr262His	rs1259326843	missense variant	-	NC_000001.11:g.162804303T>C	gnomAD
HSD17B7	P56937	p.Asn263Asp	rs371366005	missense variant	-	NC_000001.11:g.162804306A>G	ESP,ExAC,gnomAD
HSD17B7	P56937	p.Gly264Glu	rs774421811	missense variant	-	NC_000001.11:g.162804310G>A	ExAC,gnomAD
HSD17B7	P56937	p.Thr265Ala	rs775610195	missense variant	-	NC_000001.11:g.162804312A>G	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu266Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.162804315G>T	NCI-TCGA
HSD17B7	P56937	p.Ala267Thr	COSM676561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.162804318G>A	NCI-TCGA Cosmic
HSD17B7	P56937	p.Trp270Arg	rs1339912878	missense variant	-	NC_000001.11:g.162805397T>C	gnomAD
HSD17B7	P56937	p.Leu271Phe	rs1204210991	missense variant	-	NC_000001.11:g.162805400C>T	gnomAD
HSD17B7	P56937	p.His273Gln	rs768483707	missense variant	-	NC_000001.11:g.162805408C>A	ExAC,gnomAD
HSD17B7	P56937	p.Lys275Asn	rs1481446153	missense variant	-	NC_000001.11:g.162805414G>T	TOPMed,gnomAD
HSD17B7	P56937	p.Pro276Leu	rs769485031	missense variant	-	NC_000001.11:g.162805416C>T	ExAC,gnomAD
HSD17B7	P56937	p.Pro276Thr	rs372744996	missense variant	-	NC_000001.11:g.162805415C>A	ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Pro276Ala	rs372744996	missense variant	-	NC_000001.11:g.162805415C>G	ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu277Ala	rs1403221361	missense variant	-	NC_000001.11:g.162805419A>C	TOPMed
HSD17B7	P56937	p.Leu282Val	rs762426126	missense variant	-	NC_000001.11:g.162805433C>G	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ile283Met	rs971861472	missense variant	-	NC_000001.11:g.162805438C>G	TOPMed
HSD17B7	P56937	p.Ser287Ile	rs1388895908	missense variant	-	NC_000001.11:g.162805449G>T	gnomAD
HSD17B7	P56937	p.Ala288Pro	rs765822799	missense variant	-	NC_000001.11:g.162805451G>C	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Thr289Ser	rs1169679928	missense variant	-	NC_000001.11:g.162805455C>G	gnomAD
HSD17B7	P56937	p.Gly291Asp	rs1456643454	missense variant	-	NC_000001.11:g.162805461G>A	gnomAD
HSD17B7	P56937	p.Gly293Ala	rs1293164324	missense variant	-	NC_000001.11:g.162805467G>C	TOPMed,gnomAD
HSD17B7	P56937	p.Arg294Ile	rs1391649170	missense variant	-	NC_000001.11:g.162805470G>T	gnomAD
HSD17B7	P56937	p.Asn295Ile	rs751097341	missense variant	-	NC_000001.11:g.162805473A>T	ExAC,gnomAD
HSD17B7	P56937	p.Asn295Ser	rs751097341	missense variant	-	NC_000001.11:g.162805473A>G	ExAC,gnomAD
HSD17B7	P56937	p.Met298Thr	rs1309979608	missense variant	-	NC_000001.11:g.162805482T>C	gnomAD
HSD17B7	P56937	p.Thr299Ser	rs764521164	missense variant	-	NC_000001.11:g.162805484A>T	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Asp305Asn	rs562732511	missense variant	-	NC_000001.11:g.162812307G>A	1000Genomes,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Asp305Val	rs754342101	missense variant	-	NC_000001.11:g.162812308A>T	ExAC,gnomAD
HSD17B7	P56937	p.Asp305Gly	rs754342101	missense variant	-	NC_000001.11:g.162812308A>G	ExAC,gnomAD
HSD17B7	P56937	p.Thr308Ser	rs1265768593	missense variant	-	NC_000001.11:g.162812317C>G	gnomAD
HSD17B7	P56937	p.Ala309Thr	rs762407211	missense variant	-	NC_000001.11:g.162812319G>A	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu310Asp	rs1159848732	missense variant	-	NC_000001.11:g.162812324A>C	TOPMed
HSD17B7	P56937	p.Lys311Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162812325A>C	NCI-TCGA
HSD17B7	P56937	p.Phe312Leu	rs765659828	missense variant	-	NC_000001.11:g.162812330T>G	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Glu318Lys	rs750824430	missense variant	-	NC_000001.11:g.162812346G>A	ExAC,gnomAD
HSD17B7	P56937	p.Glu318Asp	rs758636818	missense variant	-	NC_000001.11:g.162812348A>C	ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Leu319Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.162812350T>C	NCI-TCGA
HSD17B7	P56937	p.Lys321Glu	rs2684875	missense variant	-	NC_000001.11:g.162812355A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSD17B7	P56937	p.Ile323Phe	rs1260712952	missense variant	-	NC_000001.11:g.162812361A>T	TOPMed
HSD17B7	P56937	p.Arg324Ser	rs1476340891	missense variant	-	NC_000001.11:g.162812366G>C	gnomAD
HSD17B7	P56937	p.Val325Ile	rs878978992	missense variant	-	NC_000001.11:g.162812367G>A	TOPMed,gnomAD
HSD17B7	P56937	p.Ile327Val	rs755056811	missense variant	-	NC_000001.11:g.162812373A>G	ExAC,gnomAD
HSD17B7	P56937	p.Thr330Ser	rs1445704473	missense variant	-	NC_000001.11:g.162812382A>T	TOPMed,gnomAD
HSD17B7	P56937	p.Thr330AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.162812376_162812377insA	NCI-TCGA
HSD17B7	P56937	p.Asp331Asn	rs747982937	missense variant	-	NC_000001.11:g.162812385G>A	ExAC,gnomAD
HSD17B7	P56937	p.Asn332His	rs201944635	missense variant	-	NC_000001.11:g.162812388A>C	ExAC,gnomAD
HSD17B7	P56937	p.Asn332Asp	rs201944635	missense variant	-	NC_000001.11:g.162812388A>G	ExAC,gnomAD
HSD17B7	P56937	p.Gln333Arg	rs777474508	missense variant	-	NC_000001.11:g.162812392A>G	ExAC,gnomAD
HSD17B7	P56937	p.Gly338Ser	rs1344317510	missense variant	-	NC_000001.11:g.162812406G>A	TOPMed
EVC	P57679	p.Met1Lys	RCV000674216	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711382T>A	ClinVar
EVC	P57679	p.Ala2Thr	rs931021445	missense variant	-	NC_000004.12:g.5711384G>A	TOPMed
EVC	P57679	p.Arg3Gly	rs1374278910	missense variant	-	NC_000004.12:g.5711387C>G	TOPMed
EVC	P57679	p.Arg3Pro	RCV000637035	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711388G>C	ClinVar
EVC	P57679	p.Arg3Pro	rs756852655	missense variant	-	NC_000004.12:g.5711388G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg3Pro	RCV000173582	missense variant	-	NC_000004.12:g.5711388G>C	ClinVar
EVC	P57679	p.Arg3Pro	RCV000724435	missense variant	-	NC_000004.12:g.5711388G>C	ClinVar
EVC	P57679	p.Gly5Val	rs939779373	missense variant	-	NC_000004.12:g.5711394G>T	TOPMed,gnomAD
EVC	P57679	p.Gly5Arg	rs1250299379	missense variant	-	NC_000004.12:g.5711393G>C	gnomAD
EVC	P57679	p.Ala6Val	rs1280664058	missense variant	-	NC_000004.12:g.5711397C>T	gnomAD
EVC	P57679	p.Ala7Thr	rs1319153350	missense variant	-	NC_000004.12:g.5711399G>A	gnomAD
EVC	P57679	p.Ala7Ter	RCV000667482	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711404del	ClinVar
EVC	P57679	p.Cys8Tyr	rs1218743213	missense variant	-	NC_000004.12:g.5711403G>A	gnomAD
EVC	P57679	p.Lys9Gln	rs1425513399	missense variant	-	NC_000004.12:g.5711405A>C	TOPMed
EVC	P57679	p.Lys9Arg	rs1186282355	missense variant	-	NC_000004.12:g.5711406A>G	TOPMed
EVC	P57679	p.Lys9Asn	rs1474600088	missense variant	-	NC_000004.12:g.5711407G>C	TOPMed
EVC	P57679	p.Asp11Asn	rs1041162288	missense variant	-	NC_000004.12:g.5711411G>A	TOPMed,gnomAD
EVC	P57679	p.Ala12Val	rs901355701	missense variant	-	NC_000004.12:g.5711415C>T	TOPMed
EVC	P57679	p.Ala12Ser	rs1369066723	missense variant	-	NC_000004.12:g.5711414G>T	TOPMed,gnomAD
EVC	P57679	p.Arg13Leu	rs562502590	missense variant	-	NC_000004.12:g.5711418G>T	1000Genomes,TOPMed
EVC	P57679	p.Arg13Trp	rs1164098333	missense variant	-	NC_000004.12:g.5711417C>T	gnomAD
EVC	P57679	p.Arg13Gln	rs562502590	missense variant	-	NC_000004.12:g.5711418G>A	1000Genomes,TOPMed
EVC	P57679	p.Arg18Leu	rs997054588	missense variant	-	NC_000004.12:g.5711433G>T	TOPMed,gnomAD
EVC	P57679	p.Ala20Glu	rs893797487	missense variant	-	NC_000004.12:g.5711439C>A	TOPMed
EVC	P57679	p.Ala20Pro	rs1359522467	missense variant	-	NC_000004.12:g.5711438G>C	TOPMed
EVC	P57679	p.Ala20Val	rs893797487	missense variant	-	NC_000004.12:g.5711439C>T	TOPMed
EVC	P57679	p.Arg22Trp	rs1267604048	missense variant	-	NC_000004.12:g.5711444C>T	gnomAD
EVC	P57679	p.Pro23Arg	rs1010882648	missense variant	-	NC_000004.12:g.5711448C>G	TOPMed
EVC	P57679	p.Pro23Leu	rs1010882648	missense variant	-	NC_000004.12:g.5711448C>T	TOPMed
EVC	P57679	p.Ala24Glu	rs966782465	missense variant	-	NC_000004.12:g.5711451C>A	TOPMed,gnomAD
EVC	P57679	p.Ala24Ser	rs1449662223	missense variant	-	NC_000004.12:g.5711450G>T	TOPMed
EVC	P57679	p.Pro25Leu	rs1426172267	missense variant	-	NC_000004.12:g.5711454C>T	TOPMed
EVC	P57679	p.Pro25Ser	rs1395518976	missense variant	-	NC_000004.12:g.5711453C>T	TOPMed,gnomAD
EVC	P57679	p.Ala26Pro	rs1171886869	missense variant	-	NC_000004.12:g.5711456G>C	TOPMed
EVC	P57679	p.Ala26Val	rs1035520087	missense variant	-	NC_000004.12:g.5711457C>T	TOPMed,gnomAD
EVC	P57679	p.Leu28Pro	rs1256100832	missense variant	-	NC_000004.12:g.5711463T>C	TOPMed
EVC	P57679	p.Ala29Val	rs1314509668	missense variant	-	NC_000004.12:g.5711466C>T	TOPMed,gnomAD
EVC	P57679	p.Pro30Thr	rs991390298	missense variant	-	NC_000004.12:g.5711468C>A	TOPMed
EVC	P57679	p.Pro30Leu	RCV000536411	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711469C>T	ClinVar
EVC	P57679	p.Pro30Ala	rs991390298	missense variant	-	NC_000004.12:g.5711468C>G	TOPMed
EVC	P57679	p.Pro30Arg	rs886044558	missense variant	-	NC_000004.12:g.5711469C>G	TOPMed,gnomAD
EVC	P57679	p.Pro30Leu	rs886044558	missense variant	-	NC_000004.12:g.5711469C>T	TOPMed,gnomAD
EVC	P57679	p.Pro30Leu	RCV000398177	missense variant	-	NC_000004.12:g.5711469C>T	ClinVar
EVC	P57679	p.Ala31Thr	rs952757087	missense variant	-	NC_000004.12:g.5711471G>A	TOPMed,gnomAD
EVC	P57679	p.Leu33Met	rs1371458418	missense variant	-	NC_000004.12:g.5711477C>A	gnomAD
EVC	P57679	p.Gly35Asp	RCV000688131	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711484G>A	ClinVar
EVC	P57679	p.Ala36Gly	rs1219807707	missense variant	-	NC_000004.12:g.5711487C>G	TOPMed,gnomAD
EVC	P57679	p.Ala37Pro	rs939747914	missense variant	-	NC_000004.12:g.5711489G>C	TOPMed
EVC	P57679	p.Ala37Val	rs1251052449	missense variant	-	NC_000004.12:g.5711490C>T	gnomAD
EVC	P57679	p.Leu38Pro	rs1416158950	missense variant	-	NC_000004.12:g.5711493T>C	TOPMed
EVC	P57679	p.Gly41Arg	rs1175605093	missense variant	-	NC_000004.12:g.5711501G>C	TOPMed
EVC	P57679	p.Leu42Ile	rs1202392804	missense variant	-	NC_000004.12:g.5711504C>A	TOPMed,gnomAD
EVC	P57679	p.Leu44Pro	rs1403513535	missense variant	-	NC_000004.12:g.5711511T>C	gnomAD
EVC	P57679	p.Leu44Phe	rs1467815235	missense variant	-	NC_000004.12:g.5711510C>T	TOPMed
EVC	P57679	p.Trp45Ter	rs1553857995	stop gained	-	NC_000004.12:g.5711514G>A	-
EVC	P57679	p.Trp45Arg	rs1271073773	missense variant	-	NC_000004.12:g.5711513T>C	TOPMed
EVC	P57679	p.Trp45Ter	RCV000674011	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5711514G>A	ClinVar
EVC	P57679	p.Leu46Phe	rs1246844384	missense variant	-	NC_000004.12:g.5711516C>T	TOPMed
EVC	P57679	p.Arg49Leu	rs922768547	missense variant	-	NC_000004.12:g.5711526G>T	TOPMed
EVC	P57679	p.Ala50Thr	rs1341486053	missense variant	-	NC_000004.12:g.5711528G>A	gnomAD
EVC	P57679	p.Arg52His	rs1399978558	missense variant	-	NC_000004.12:g.5711535G>A	gnomAD
EVC	P57679	p.Arg52Cys	rs932851648	missense variant	-	NC_000004.12:g.5711534C>T	TOPMed,gnomAD
EVC	P57679	p.Arg54His	rs1294037476	missense variant	-	NC_000004.12:g.5711541G>A	gnomAD
EVC	P57679	p.Gln58Ter	RCV000413234	nonsense	-	NC_000004.12:g.5711552C>T	ClinVar
EVC	P57679	p.Gln58Ter	rs1057517899	stop gained	-	NC_000004.12:g.5711552C>T	-
EVC	P57679	p.Asp60His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5719251G>C	NCI-TCGA
EVC	P57679	p.Asp60Asn	rs749978268	missense variant	-	NC_000004.12:g.5719251G>A	ExAC,gnomAD
EVC	P57679	p.Asp61Asn	rs779857768	missense variant	-	NC_000004.12:g.5719254G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp61Gly	rs753561059	missense variant	-	NC_000004.12:g.5719255A>G	ExAC,gnomAD
EVC	P57679	p.Asp61His	rs779857768	missense variant	-	NC_000004.12:g.5719254G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr62Ile	rs147280107	missense variant	-	NC_000004.12:g.5719258C>T	NCI-TCGA,NCI-TCGA Cosmic
EVC	P57679	p.Thr62Ile	rs147280107	missense variant	-	NC_000004.12:g.5719258C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr62Ala	rs143898721	missense variant	-	NC_000004.12:g.5719257A>G	ESP,ExAC,TOPMed
EVC	P57679	p.Thr62Pro	rs143898721	missense variant	-	NC_000004.12:g.5719257A>C	ESP,ExAC,TOPMed
EVC	P57679	p.Gln63Glu	rs371329240	missense variant	-	NC_000004.12:g.5719260C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln63Arg	rs772017175	missense variant	-	NC_000004.12:g.5719261A>G	ExAC,gnomAD
EVC	P57679	p.Leu65Met	rs140697525	missense variant	-	NC_000004.12:g.5719266C>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys67Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5719273A>T	NCI-TCGA
EVC	P57679	p.Lys67Asn	rs747092718	missense variant	-	NC_000004.12:g.5719274G>T	NCI-TCGA
EVC	P57679	p.Lys67Asn	rs747092718	missense variant	-	NC_000004.12:g.5719274G>T	ExAC
EVC	P57679	p.Lys67Asn	COSM3604643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5719274G>C	NCI-TCGA Cosmic
EVC	P57679	p.Asn72Asp	rs771087271	missense variant	-	NC_000004.12:g.5719287A>G	ExAC,gnomAD
EVC	P57679	p.Ala73Glu	rs1361442490	missense variant	-	NC_000004.12:g.5719291C>A	TOPMed,gnomAD
EVC	P57679	p.Ala73Val	rs1361442490	missense variant	-	NC_000004.12:g.5719291C>T	TOPMed,gnomAD
EVC	P57679	p.Ala73Val	rs1361442490	missense variant	-	NC_000004.12:g.5719291C>T	NCI-TCGA Cosmic
EVC	P57679	p.Gln74Pro	RCV000254126	missense variant	-	NC_000004.12:g.5719294A>C	ClinVar
EVC	P57679	p.Gln74Pro	RCV000303964	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5719294A>C	ClinVar
EVC	P57679	p.Gln74Pro	rs2291157	missense variant	-	NC_000004.12:g.5719294A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln74Pro	RCV000398734	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5719294A>C	ClinVar
EVC	P57679	p.Thr75Ile	rs763507888	missense variant	-	NC_000004.12:g.5719297C>T	ExAC,gnomAD
EVC	P57679	p.Thr75Asn	rs763507888	missense variant	-	NC_000004.12:g.5719297C>A	ExAC,gnomAD
EVC	P57679	p.Thr75Ile	rs763507888	missense variant	-	NC_000004.12:g.5719297C>T	NCI-TCGA Cosmic
EVC	P57679	p.Pro76Ser	rs760319292	missense variant	-	NC_000004.12:g.5719299C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro76Ala	rs760319292	missense variant	-	NC_000004.12:g.5719299C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser77Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5719303C>A	NCI-TCGA
EVC	P57679	p.Ser77Leu	rs766938849	missense variant	-	NC_000004.12:g.5719303C>T	ExAC,gnomAD
EVC	P57679	p.Glu78Asp	rs754706204	missense variant	-	NC_000004.12:g.5719307A>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr79Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5719308A>T	NCI-TCGA
EVC	P57679	p.Ser81Phe	rs752462640	missense variant	-	NC_000004.12:g.5719315C>T	ExAC,gnomAD
EVC	P57679	p.Pro82Ala	rs777697300	missense variant	-	NC_000004.12:g.5719317C>G	ExAC,gnomAD
EVC	P57679	p.Ser83Leu	rs886059495	missense variant	-	NC_000004.12:g.5719321C>T	-
EVC	P57679	p.Ser83Leu	RCV000393028	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5719321C>T	ClinVar
EVC	P57679	p.Ser83Leu	RCV000340204	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5719321C>T	ClinVar
EVC	P57679	p.Arg85Ter	RCV000723255	frameshift	-	NC_000004.12:g.5719325del	ClinVar
EVC	P57679	p.Arg86Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5719330G>T	NCI-TCGA
EVC	P57679	p.Lys87Glu	rs771068713	missense variant	-	NC_000004.12:g.5719332A>G	ExAC,gnomAD
EVC	P57679	p.Lys87Glu	rs771068713	missense variant	-	NC_000004.12:g.5719332A>G	NCI-TCGA,NCI-TCGA Cosmic
EVC	P57679	p.Arg88Thr	rs1026879773	missense variant	-	NC_000004.12:g.5719336G>C	TOPMed,gnomAD
EVC	P57679	p.Glu89Gly	rs781244755	missense variant	-	NC_000004.12:g.5719339A>G	ExAC,TOPMed
EVC	P57679	p.Val90Glu	rs1178129562	missense variant	-	NC_000004.12:g.5719342T>A	TOPMed
EVC	P57679	p.Met92Ile	rs1467789013	missense variant	-	NC_000004.12:g.5719349G>A	gnomAD
EVC	P57679	p.Met92Val	rs1468764381	missense variant	-	NC_000004.12:g.5719347A>G	TOPMed
EVC	P57679	p.Ser93Leu	rs1234856967	missense variant	-	NC_000004.12:g.5719351C>T	TOPMed
EVC	P57679	p.Ser93Leu	rs1234856967	missense variant	-	NC_000004.12:g.5719351C>T	NCI-TCGA
EVC	P57679	p.Lys94Ter	COSM6100790	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5719353A>T	NCI-TCGA Cosmic
EVC	P57679	p.Asp95Gly	RCV000175994	missense variant	-	NC_000004.12:g.5719357A>G	ClinVar
EVC	P57679	p.Asp95Gly	rs41269547	missense variant	-	NC_000004.12:g.5719357A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp95Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5719356G>A	NCI-TCGA
EVC	P57679	p.Lys96Arg	rs763416267	missense variant	-	NC_000004.12:g.5719360A>G	ExAC,gnomAD
EVC	P57679	p.Val99Ala	rs769228482	missense variant	-	NC_000004.12:g.5719369T>C	ExAC,gnomAD
EVC	P57679	p.Asp100Gly	rs1282571678	missense variant	-	NC_000004.12:g.5719372A>G	TOPMed,gnomAD
EVC	P57679	p.Glu101Ala	rs775193215	missense variant	-	NC_000004.12:g.5729308A>C	ExAC,gnomAD
EVC	P57679	p.Glu101Lys	rs1421283944	missense variant	-	NC_000004.12:g.5729307G>A	gnomAD
EVC	P57679	p.Cys102Tyr	rs1428753157	missense variant	-	NC_000004.12:g.5729311G>A	TOPMed,gnomAD
EVC	P57679	p.Glu103Ter	rs1285992043	stop gained	-	NC_000004.12:g.5729313G>T	gnomAD
EVC	P57679	p.Glu103Asp	rs763380800	missense variant	-	NC_000004.12:g.5729315G>C	gnomAD
EVC	P57679	p.Pro104Ser	rs866940441	missense variant	-	NC_000004.12:g.5729316C>T	TOPMed
EVC	P57679	p.Pro104Arg	rs201640469	missense variant	-	NC_000004.12:g.5729317C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro104Leu	rs201640469	missense variant	-	NC_000004.12:g.5729317C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro105His	rs751381591	missense variant	-	NC_000004.12:g.5729320C>A	ExAC,gnomAD
EVC	P57679	p.Ser106Cys	rs200668643	missense variant	-	NC_000004.12:g.5729323C>G	TOPMed,gnomAD
EVC	P57679	p.Ser106Phe	rs200668643	missense variant	-	NC_000004.12:g.5729323C>T	TOPMed,gnomAD
EVC	P57679	p.Asn107His	rs1034459378	missense variant	-	NC_000004.12:g.5729325A>C	gnomAD
EVC	P57679	p.Asn107Lys	rs757180182	missense variant	-	NC_000004.12:g.5729327C>A	ExAC,gnomAD
EVC	P57679	p.Asn109Ser	rs1270028243	missense variant	-	NC_000004.12:g.5729332A>G	TOPMed
EVC	P57679	p.Asn109Asp	rs1212823200	missense variant	-	NC_000004.12:g.5729331A>G	TOPMed,gnomAD
EVC	P57679	p.Ile110Met	rs767361058	missense variant	-	NC_000004.12:g.5729336C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala112Ser	COSM280881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5729340G>T	NCI-TCGA Cosmic
EVC	P57679	p.Ala114Val	RCV000370500	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5729347C>T	ClinVar
EVC	P57679	p.Ala114Val	rs16837598	missense variant	-	NC_000004.12:g.5729347C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala114Val	RCV000533219	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5729347C>T	ClinVar
EVC	P57679	p.Ala114Val	RCV000246605	missense variant	-	NC_000004.12:g.5729347C>T	ClinVar
EVC	P57679	p.Ala114Gly	rs16837598	missense variant	-	NC_000004.12:g.5729347C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala114Ser	rs756208272	missense variant	-	NC_000004.12:g.5729346G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala114Thr	rs756208272	missense variant	-	NC_000004.12:g.5729346G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala114Val	RCV000277753	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5729347C>T	ClinVar
EVC	P57679	p.Ala114Thr	rs756208272	missense variant	-	NC_000004.12:g.5729346G>A	NCI-TCGA
EVC	P57679	p.Leu115Val	rs755273705	missense variant	-	NC_000004.12:g.5729349C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys116Glu	COSM4125291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5729352A>G	NCI-TCGA Cosmic
EVC	P57679	p.Ala117Ser	rs779379855	missense variant	-	NC_000004.12:g.5729355G>T	ExAC,gnomAD
EVC	P57679	p.Ile120Val	rs1398927619	missense variant	-	NC_000004.12:g.5729364A>G	TOPMed,gnomAD
EVC	P57679	p.Tyr121Ter	rs748523193	stop gained	-	NC_000004.12:g.5729369C>A	ExAC,gnomAD
EVC	P57679	p.Tyr121Ter	RCV000516149	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000004.12:g.5729369C>A	ClinVar
EVC	P57679	p.Pro122Ser	rs1407007311	missense variant	-	NC_000004.12:g.5729370C>T	gnomAD
EVC	P57679	p.Pro122Ser	RCV000672061	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5729370C>T	ClinVar
EVC	P57679	p.Ile123Val	rs772569904	missense variant	-	NC_000004.12:g.5729373A>G	ExAC,gnomAD
EVC	P57679	p.Lys126Met	rs1334984151	missense variant	-	NC_000004.12:g.5729383A>T	gnomAD
EVC	P57679	p.Phe127Leu	rs1259074504	missense variant	-	NC_000004.12:g.5729387C>G	gnomAD
EVC	P57679	p.Arg128Gln	rs773647675	missense variant	-	NC_000004.12:g.5729389G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro129Thr	rs1394529980	missense variant	-	NC_000004.12:g.5731425C>A	gnomAD
EVC	P57679	p.Leu130Pro	COSM3392918	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5731429T>C	NCI-TCGA Cosmic
EVC	P57679	p.Asp132Asn	rs1345242139	missense variant	-	NC_000004.12:g.5731434G>A	gnomAD
EVC	P57679	p.Asp132Ter	RCV000761603	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5731433del	ClinVar
EVC	P57679	p.Ser134Tyr	rs1403693257	missense variant	-	NC_000004.12:g.5731441C>A	gnomAD
EVC	P57679	p.Asn136Ser	rs1280640315	missense variant	-	NC_000004.12:g.5731447A>G	TOPMed,gnomAD
EVC	P57679	p.Asn136Ile	rs1280640315	missense variant	-	NC_000004.12:g.5731447A>T	TOPMed,gnomAD
EVC	P57679	p.Pro137Thr	rs752906200	missense variant	-	NC_000004.12:g.5731449C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro137Thr	RCV000594368	missense variant	-	NC_000004.12:g.5731449C>A	ClinVar
EVC	P57679	p.Pro137Thr	RCV000271782	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731449C>A	ClinVar
EVC	P57679	p.Pro137Thr	RCV000329078	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731449C>A	ClinVar
EVC	P57679	p.Pro137Leu	COSM4681873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5731450C>T	NCI-TCGA Cosmic
EVC	P57679	p.Ser138Phe	rs1243380410	missense variant	-	NC_000004.12:g.5731453C>T	TOPMed
EVC	P57679	p.Leu139Val	rs1336997702	missense variant	-	NC_000004.12:g.5731455C>G	gnomAD
EVC	P57679	p.His140Leu	rs1224211672	missense variant	-	NC_000004.12:g.5731459A>T	TOPMed,gnomAD
EVC	P57679	p.His140Pro	rs1224211672	missense variant	-	NC_000004.12:g.5731459A>C	TOPMed,gnomAD
EVC	P57679	p.His140Gln	rs751989549	missense variant	-	NC_000004.12:g.5731460T>G	ExAC,gnomAD
EVC	P57679	p.His140Arg	rs1224211672	missense variant	-	NC_000004.12:g.5731459A>G	TOPMed,gnomAD
EVC	P57679	p.Asn142Lys	rs954653405	missense variant	-	NC_000004.12:g.5731466C>G	TOPMed,gnomAD
EVC	P57679	p.Gln145Arg	rs757694707	missense variant	-	NC_000004.12:g.5731474A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln145Pro	rs757694707	missense variant	-	NC_000004.12:g.5731474A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala146Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5731477C>T	NCI-TCGA
EVC	P57679	p.Val147Ile	rs748785587	missense variant	-	NC_000004.12:g.5731479G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Val147Phe	rs748785587	missense variant	-	NC_000004.12:g.5731479G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Val147Leu	rs748785587	missense variant	-	NC_000004.12:g.5731479G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Val147Ile	rs748785587	missense variant	-	NC_000004.12:g.5731479G>A	NCI-TCGA
EVC	P57679	p.Leu148Ser	rs200052003	missense variant	-	NC_000004.12:g.5731483T>C	gnomAD
EVC	P57679	p.Leu148Trp	rs200052003	missense variant	-	NC_000004.12:g.5731483T>G	gnomAD
EVC	P57679	p.Leu148Phe	rs778604572	missense variant	-	NC_000004.12:g.5731484G>C	ExAC
EVC	P57679	p.His150Pro	rs200403488	missense variant	-	NC_000004.12:g.5731489A>C	ExAC,gnomAD
EVC	P57679	p.Pro152Leu	rs371671127	missense variant	-	NC_000004.12:g.5731495C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu154Gly	rs1386247667	missense variant	-	NC_000004.12:g.5731501A>G	TOPMed,gnomAD
EVC	P57679	p.Glu154Gln	COSM1310157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5731500G>C	NCI-TCGA Cosmic
EVC	P57679	p.Ser156Phe	rs1294279906	missense variant	-	NC_000004.12:g.5731507C>T	gnomAD
EVC	P57679	p.Pro157Leu	rs763048870	missense variant	-	NC_000004.12:g.5731510C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro157Ser	rs146729456	missense variant	-	NC_000004.12:g.5731509C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro157Ala	rs146729456	missense variant	-	NC_000004.12:g.5731509C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro157Ala	RCV000341901	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731509C>G	ClinVar
EVC	P57679	p.Pro157Ala	RCV000178397	missense variant	-	NC_000004.12:g.5731509C>G	ClinVar
EVC	P57679	p.Pro157Ala	RCV000380019	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731509C>G	ClinVar
EVC	P57679	p.Ser158Cys	rs150284356	missense variant	-	NC_000004.12:g.5731513C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser158Cys	RCV000283215	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731513C>G	ClinVar
EVC	P57679	p.Ser158Cys	RCV000340602	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731513C>G	ClinVar
EVC	P57679	p.Leu161Val	rs757677978	missense variant	-	NC_000004.12:g.5731521C>G	ExAC,gnomAD
EVC	P57679	p.Leu161Pro	rs750970340	missense variant	-	NC_000004.12:g.5731522T>C	ExAC,gnomAD
EVC	P57679	p.Ser163Arg	rs1490742182	missense variant	-	NC_000004.12:g.5731529C>A	TOPMed
EVC	P57679	p.Ser163Ile	COSM4125292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5731528G>T	NCI-TCGA Cosmic
EVC	P57679	p.Ser165Arg	rs1259803475	missense variant	-	NC_000004.12:g.5731533A>C	NCI-TCGA
EVC	P57679	p.Ser165Arg	rs1259803475	missense variant	-	NC_000004.12:g.5731533A>C	gnomAD
EVC	P57679	p.Gly167Ser	rs567701930	missense variant	-	NC_000004.12:g.5731539G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu168Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5731543A>G	NCI-TCGA
EVC	P57679	p.Lys169Met	rs1184442129	missense variant	-	NC_000004.12:g.5731546A>T	gnomAD
EVC	P57679	p.Lys169Glu	rs1281612038	missense variant	-	NC_000004.12:g.5731545A>G	TOPMed
EVC	P57679	p.Lys169Asn	rs560865556	missense variant	-	NC_000004.12:g.5731547G>T	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Asp170Gly	rs1240414431	missense variant	-	NC_000004.12:g.5731549A>G	TOPMed
EVC	P57679	p.Asp171Tyr	rs199904401	missense variant	-	NC_000004.12:g.5731551G>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp171Asn	rs199904401	missense variant	-	NC_000004.12:g.5731551G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp171Asn	rs199904401	missense variant	-	NC_000004.12:g.5731551G>A	NCI-TCGA
EVC	P57679	p.Cys172Trp	rs1364707022	missense variant	-	NC_000004.12:g.5731556C>G	gnomAD
EVC	P57679	p.Ser173Ile	rs770888314	missense variant	-	NC_000004.12:g.5731558G>T	ExAC,gnomAD
EVC	P57679	p.Ser175Leu	rs915228880	missense variant	-	NC_000004.12:g.5731564C>T	gnomAD
EVC	P57679	p.Ser176Cys	rs769804808	missense variant	-	NC_000004.12:g.5731567C>G	ExAC,gnomAD
EVC	P57679	p.Ser177Arg	rs542910336	missense variant	-	NC_000004.12:g.5731571C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Val178Ile	rs144897690	missense variant	-	NC_000004.12:g.5731572G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Val178Ile	RCV000389976	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731572G>A	ClinVar
EVC	P57679	p.Val178Ile	RCV000300922	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731572G>A	ClinVar
EVC	P57679	p.Val178Ile	RCV000637048	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731572G>A	ClinVar
EVC	P57679	p.Val178Ile	rs144897690	missense variant	-	NC_000004.12:g.5731572G>A	NCI-TCGA,NCI-TCGA Cosmic
EVC	P57679	p.His179Tyr	rs1462719842	missense variant	-	NC_000004.12:g.5731575C>T	gnomAD
EVC	P57679	p.Ser180Leu	rs762136199	missense variant	-	NC_000004.12:g.5731579C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser183Gly	rs941367607	missense variant	-	NC_000004.12:g.5731587A>G	TOPMed
EVC	P57679	p.Asp184Asn	RCV000391771	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5731590G>A	ClinVar
EVC	P57679	p.Asp184Asn	rs41269549	missense variant	-	NC_000004.12:g.5731590G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp184Asn	RCV000334802	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5731590G>A	ClinVar
EVC	P57679	p.Arg186Lys	rs1409247307	missense variant	-	NC_000004.12:g.5731597G>A	gnomAD
EVC	P57679	p.Leu188Phe	rs766923110	missense variant	-	NC_000004.12:g.5731602C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser189Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5731605A>G	NCI-TCGA
EVC	P57679	p.Arg190His	rs113002470	missense variant	-	NC_000004.12:g.5731609G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg190Leu	RCV000178396	missense variant	-	NC_000004.12:g.5731609G>T	ClinVar
EVC	P57679	p.Arg190Leu	rs113002470	missense variant	-	NC_000004.12:g.5731609G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg190Cys	rs1286815295	missense variant	-	NC_000004.12:g.5731608C>T	TOPMed
EVC	P57679	p.Arg190Cys	rs1286815295	missense variant	-	NC_000004.12:g.5731608C>T	NCI-TCGA Cosmic
EVC	P57679	p.Thr191Ser	rs1261882121	missense variant	-	NC_000004.12:g.5731612C>G	TOPMed
EVC	P57679	p.Phe192Cys	rs1470683132	missense variant	-	NC_000004.12:g.5731615T>G	gnomAD
EVC	P57679	p.Arg194Pro	rs777256784	missense variant	-	NC_000004.12:g.5731621G>C	ExAC,gnomAD
EVC	P57679	p.Arg194Leu	rs777256784	missense variant	-	NC_000004.12:g.5731621G>T	ExAC,gnomAD
EVC	P57679	p.Arg194Trp	rs757990300	missense variant	-	NC_000004.12:g.5731620C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg194Gln	rs777256784	missense variant	-	NC_000004.12:g.5731621G>A	ExAC,gnomAD
EVC	P57679	p.Arg194Leu	rs777256784	missense variant	-	NC_000004.12:g.5731621G>T	NCI-TCGA Cosmic
EVC	P57679	p.Asn196Ile	rs1390544058	missense variant	-	NC_000004.12:g.5731627A>T	gnomAD
EVC	P57679	p.Asn196Asp	rs41269551	missense variant	-	NC_000004.12:g.5731626A>G	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Ala197Ser	rs115507440	missense variant	-	NC_000004.12:g.5731629G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala197Thr	rs115507440	missense variant	-	NC_000004.12:g.5731629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro199Leu	rs1401131325	missense variant	-	NC_000004.12:g.5731636C>T	TOPMed
EVC	P57679	p.Glu205Asp	rs1233601345	missense variant	-	NC_000004.12:g.5731655G>C	gnomAD
EVC	P57679	p.Glu205Lys	rs775555999	missense variant	-	NC_000004.12:g.5731653G>A	ExAC,gnomAD
EVC	P57679	p.Ser206Asn	rs1017946059	missense variant	-	NC_000004.12:g.5731657G>A	TOPMed,gnomAD
EVC	P57679	p.Ser206Asn	RCV000673804	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5731657G>A	ClinVar
EVC	P57679	p.Val209Ile	rs202026284	missense variant	-	NC_000004.12:g.5733358G>A	NCI-TCGA,NCI-TCGA Cosmic
EVC	P57679	p.Val209Ile	RCV000766746	missense variant	-	NC_000004.12:g.5733358G>A	ClinVar
EVC	P57679	p.Val209Ala	rs1230866971	missense variant	-	NC_000004.12:g.5733359T>C	gnomAD
EVC	P57679	p.Val209Ile	rs202026284	missense variant	-	NC_000004.12:g.5733358G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Val209Ile	RCV000435250	missense variant	-	NC_000004.12:g.5733358G>A	ClinVar
EVC	P57679	p.Asp210Tyr	rs376818413	missense variant	-	NC_000004.12:g.5733361G>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp210Asn	rs376818413	missense variant	-	NC_000004.12:g.5733361G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu211Gln	rs982677323	missense variant	-	NC_000004.12:g.5733365T>A	TOPMed
EVC	P57679	p.Ile213Val	rs772174934	missense variant	-	NC_000004.12:g.5733370A>G	ExAC,gnomAD
EVC	P57679	p.Tyr214Cys	rs1215091473	missense variant	-	NC_000004.12:g.5733374A>G	TOPMed
EVC	P57679	p.Tyr214His	rs777946797	missense variant	-	NC_000004.12:g.5733373T>C	ExAC,gnomAD
EVC	P57679	p.Ser215Arg	rs747203423	missense variant	-	NC_000004.12:g.5733378C>G	ExAC,gnomAD
EVC	P57679	p.Leu216Val	rs373002232	missense variant	-	NC_000004.12:g.5733379C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.His217Arg	rs776989981	missense variant	-	NC_000004.12:g.5733383A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp220Glu	rs200294295	missense variant	-	NC_000004.12:g.5733393C>G	TOPMed,gnomAD
EVC	P57679	p.Asp220Glu	rs200294295	missense variant	-	NC_000004.12:g.5733393C>A	TOPMed,gnomAD
EVC	P57679	p.Asp220Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5733391G>T	NCI-TCGA
EVC	P57679	p.Asp220Gly	rs1318878744	missense variant	-	NC_000004.12:g.5733392A>G	TOPMed,gnomAD
EVC	P57679	p.Leu221Val	rs770414518	missense variant	-	NC_000004.12:g.5733394C>G	ExAC,TOPMed
EVC	P57679	p.Leu221Met	COSM297284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5733394C>A	NCI-TCGA Cosmic
EVC	P57679	p.His223Pro	rs776205592	missense variant	-	NC_000004.12:g.5733401A>C	ExAC,gnomAD
EVC	P57679	p.His223Arg	rs776205592	missense variant	-	NC_000004.12:g.5733401A>G	ExAC,gnomAD
EVC	P57679	p.His223Leu	rs776205592	missense variant	-	NC_000004.12:g.5733401A>T	ExAC,gnomAD
EVC	P57679	p.Asp225Gly	rs1420664714	missense variant	-	NC_000004.12:g.5733407A>G	gnomAD
EVC	P57679	p.Thr226Met	rs201583621	missense variant	-	NC_000004.12:g.5733410C>T	NCI-TCGA,NCI-TCGA Cosmic
EVC	P57679	p.Thr226Met	RCV000390476	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5733410C>T	ClinVar
EVC	P57679	p.Thr226Met	RCV000351265	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5733410C>T	ClinVar
EVC	P57679	p.Thr226Met	rs201583621	missense variant	-	NC_000004.12:g.5733410C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr226Lys	rs201583621	missense variant	-	NC_000004.12:g.5733410C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala227Val	rs1245476089	missense variant	-	NC_000004.12:g.5733413C>T	gnomAD
EVC	P57679	p.Ala227Thr	COSM1430358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5733412G>A	NCI-TCGA Cosmic
EVC	P57679	p.Leu228Met	rs760306552	missense variant	-	NC_000004.12:g.5733415C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu228Val	rs760306552	missense variant	-	NC_000004.12:g.5733415C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys232Asn	rs371664035	missense variant	-	NC_000004.12:g.5733429G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys232Glu	rs754792099	missense variant	-	NC_000004.12:g.5733427A>G	ExAC,gnomAD
EVC	P57679	p.Lys232SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5733425A>-	NCI-TCGA
EVC	P57679	p.His233Arg	rs769431829	missense variant	-	NC_000004.12:g.5733431A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.His233Pro	rs769431829	missense variant	-	NC_000004.12:g.5733431A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.His233Ter	RCV000664817	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5733431dup	ClinVar
EVC	P57679	p.His233Leu	rs769431829	missense variant	-	NC_000004.12:g.5733431A>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Met234Ile	rs190661824	missense variant	-	NC_000004.12:g.5733435G>C	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Met234Ile	rs190661824	missense variant	-	NC_000004.12:g.5733435G>A	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Met234Val	rs758352741	missense variant	-	NC_000004.12:g.5733433A>G	ExAC,gnomAD
EVC	P57679	p.Met235Ile	rs1254905640	missense variant	-	NC_000004.12:g.5741718G>A	TOPMed
EVC	P57679	p.Met235Thr	rs746493687	missense variant	-	NC_000004.12:g.5741717T>C	ExAC,gnomAD
EVC	P57679	p.Phe236Tyr	COSM734059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5741720T>A	NCI-TCGA Cosmic
EVC	P57679	p.Gln238Ter	rs770396892	stop gained	-	NC_000004.12:g.5741725C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln238His	rs1195994043	missense variant	-	NC_000004.12:g.5741727G>C	gnomAD
EVC	P57679	p.Gln238Glu	rs770396892	missense variant	-	NC_000004.12:g.5741725C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Phe240Ter	RCV000674924	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5741733del	ClinVar
EVC	P57679	p.Met242Ile	rs759147384	missense variant	-	NC_000004.12:g.5741739G>A	ExAC,gnomAD
EVC	P57679	p.Cys243Phe	rs1224632863	missense variant	-	NC_000004.12:g.5741741G>T	TOPMed,gnomAD
EVC	P57679	p.Cys243Tyr	rs1224632863	missense variant	-	NC_000004.12:g.5741741G>A	TOPMed,gnomAD
EVC	P57679	p.Leu245Phe	rs1213332263	missense variant	-	NC_000004.12:g.5741746C>T	TOPMed
EVC	P57679	p.Asp246Tyr	rs144029167	missense variant	-	NC_000004.12:g.5741749G>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp246Ter	RCV000005669	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5741748del	ClinVar
EVC	P57679	p.Lys252Ter	RCV000672688	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5741765dup	ClinVar
EVC	P57679	p.Ser253Ala	rs775209681	missense variant	-	NC_000004.12:g.5741770T>G	ExAC,gnomAD
EVC	P57679	p.Ser253Ter	rs762795511	stop gained	-	NC_000004.12:g.5741771C>G	ExAC,gnomAD
EVC	P57679	p.Asp254Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5741773G>A	NCI-TCGA
EVC	P57679	p.Asp254Gly	rs1286224731	missense variant	-	NC_000004.12:g.5741774A>G	TOPMed
EVC	P57679	p.Asp255Tyr	rs751491143	missense variant	-	NC_000004.12:g.5741776G>T	ExAC,gnomAD
EVC	P57679	p.Glu256Lys	rs761935549	missense variant	-	NC_000004.12:g.5741779G>A	ExAC,gnomAD
EVC	P57679	p.LeuTyr257LeuHis	rs1553871815	missense variant	-	NC_000004.12:g.5741782_5741785delinsTTAC	-
EVC	P57679	p.Leu257Pro	rs750565190	missense variant	-	NC_000004.12:g.5741783T>C	ExAC,gnomAD
EVC	P57679	p.Leu257Gln	rs750565190	missense variant	-	NC_000004.12:g.5741783T>A	ExAC,gnomAD
EVC	P57679	p.Leu257Gln	RCV000171373	missense variant	-	NC_000004.12:g.5741783T>A	ClinVar
EVC	P57679	p.Tyr258His	RCV000297646	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5741785T>C	ClinVar
EVC	P57679	p.Tyr258Cys	rs754248576	missense variant	-	NC_000004.12:g.5741786A>G	ExAC,gnomAD
EVC	P57679	p.Tyr258His	RCV000179558	missense variant	-	NC_000004.12:g.5741785T>C	ClinVar
EVC	P57679	p.Tyr258His	RCV000400923	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5741785T>C	ClinVar
EVC	P57679	p.Tyr258His	RCV000506662	missense variant	-	NC_000004.12:g.5741782_5741785delinsTTAC	ClinVar
EVC	P57679	p.Tyr258His	rs6414624	missense variant	-	NC_000004.12:g.5741785T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Tyr258Ter	rs748201094	stop gained	-	NC_000004.12:g.5741786dup	ExAC
EVC	P57679	p.Gln259Lys	rs1327859684	missense variant	-	NC_000004.12:g.5741788C>A	TOPMed
EVC	P57679	p.Gln259Arg	rs554073675	missense variant	-	NC_000004.12:g.5741789A>G	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Lys260Gln	rs779448920	missense variant	-	NC_000004.12:g.5741791A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys260Arg	rs748555065	missense variant	-	NC_000004.12:g.5741792A>G	ExAC,gnomAD
EVC	P57679	p.Ile261Ser	rs369832780	missense variant	-	NC_000004.12:g.5741795T>G	ESP,ExAC
EVC	P57679	p.Ile261Thr	rs369832780	missense variant	-	NC_000004.12:g.5741795T>C	ESP,ExAC
EVC	P57679	p.Lys264Ile	rs1292447793	missense variant	-	NC_000004.12:g.5741804A>T	gnomAD
EVC	P57679	p.Lys267Glu	rs1264020517	missense variant	-	NC_000004.12:g.5741812A>G	TOPMed,gnomAD
EVC	P57679	p.Asp268Tyr	rs915103359	missense variant	-	NC_000004.12:g.5745204G>T	gnomAD
EVC	P57679	p.Asp268Asn	rs915103359	missense variant	-	NC_000004.12:g.5745204G>A	gnomAD
EVC	P57679	p.Asp268Ala	rs747991962	missense variant	-	NC_000004.12:g.5745205A>C	ExAC,gnomAD
EVC	P57679	p.Leu269Ter	rs1255567860	stop gained	-	NC_000004.12:g.5745208T>A	gnomAD
EVC	P57679	p.Glu270Lys	rs1279239113	missense variant	-	NC_000004.12:g.5745210G>A	TOPMed,gnomAD
EVC	P57679	p.Glu271Lys	rs771897142	missense variant	-	NC_000004.12:g.5745213G>A	ExAC,TOPMed
EVC	P57679	p.Lys274ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5745220A>-	NCI-TCGA
EVC	P57679	p.Lys274Thr	rs1037859021	missense variant	-	NC_000004.12:g.5745223A>C	TOPMed
EVC	P57679	p.Lys274Glu	rs1345094264	missense variant	-	NC_000004.12:g.5745222A>G	gnomAD
EVC	P57679	p.Gly275Arg	rs1206421778	missense variant	-	NC_000004.12:g.5745225G>A	TOPMed,gnomAD
EVC	P57679	p.Gly275Val	rs565481068	missense variant	-	NC_000004.12:g.5745226G>T	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Gln277Ter	rs1251648799	stop gained	-	NC_000004.12:g.5745231C>T	gnomAD
EVC	P57679	p.Lys279Arg	rs1472579214	missense variant	-	NC_000004.12:g.5745238A>G	gnomAD
EVC	P57679	p.Ser281Leu	rs1180633826	missense variant	-	NC_000004.12:g.5745244C>T	gnomAD
EVC	P57679	p.Asn282Asp	rs760812070	missense variant	-	NC_000004.12:g.5745246A>G	ExAC,gnomAD
EVC	P57679	p.Thr283Ala	rs367702379	missense variant	-	NC_000004.12:g.5745249A>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr283Lys	rs1176727775	missense variant	-	NC_000004.12:g.5745250C>A	gnomAD
EVC	P57679	p.Glu284Lys	rs370643731	missense variant	-	NC_000004.12:g.5745252G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Met285Val	rs1464387798	missense variant	-	NC_000004.12:g.5745255A>G	gnomAD
EVC	P57679	p.Ser286Trp	rs139263450	missense variant	-	NC_000004.12:g.5745259C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser286Leu	rs139263450	missense variant	-	NC_000004.12:g.5745259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala288Ser	rs1286304794	missense variant	-	NC_000004.12:g.5745264G>T	TOPMed,gnomAD
EVC	P57679	p.Ala288Thr	rs1286304794	missense variant	-	NC_000004.12:g.5745264G>A	TOPMed,gnomAD
EVC	P57679	p.Gly289Ala	rs1347479870	missense variant	-	NC_000004.12:g.5745268G>C	gnomAD
EVC	P57679	p.Asp290Gly	rs764555992	missense variant	-	NC_000004.12:g.5745271A>G	ExAC
EVC	P57679	p.Ser291Pro	rs752110410	missense variant	-	NC_000004.12:g.5745273T>C	ExAC,gnomAD
EVC	P57679	p.Ser291Phe	rs757788315	missense variant	-	NC_000004.12:g.5745274C>T	ExAC
EVC	P57679	p.Glu292Ter	RCV000666798	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745275dup	ClinVar
EVC	P57679	p.Glu292Asp	rs902304992	missense variant	-	NC_000004.12:g.5745278G>C	TOPMed,gnomAD
EVC	P57679	p.Glu292Ter	RCV000695327	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745275dup	ClinVar
EVC	P57679	p.Tyr293His	rs890722382	missense variant	-	NC_000004.12:g.5745279T>C	TOPMed
EVC	P57679	p.Tyr293Cys	rs1252316234	missense variant	-	NC_000004.12:g.5745280A>G	TOPMed,gnomAD
EVC	P57679	p.Ile294Val	rs779502889	missense variant	-	NC_000004.12:g.5745282A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr295Asn	rs754532508	missense variant	-	NC_000004.12:g.5745286C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr295Ser	rs754532508	missense variant	-	NC_000004.12:g.5745286C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr295Ile	rs754532508	missense variant	-	NC_000004.12:g.5745286C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr295Ser	RCV000673355	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745286C>G	ClinVar
EVC	P57679	p.Val299Glu	rs1344717487	missense variant	-	NC_000004.12:g.5745298T>A	TOPMed
EVC	P57679	p.Val299Ala	rs1344717487	missense variant	-	NC_000004.12:g.5745298T>C	TOPMed
EVC	P57679	p.Glu300Ala	rs149529742	missense variant	-	NC_000004.12:g.5745301A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu300Ala	RCV000309528	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5745301A>C	ClinVar
EVC	P57679	p.Glu300Ala	RCV000275488	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5745301A>C	ClinVar
EVC	P57679	p.Glu300Asp	COSM280882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5745302A>C	NCI-TCGA Cosmic
EVC	P57679	p.Lys301Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5745304A>G	NCI-TCGA
EVC	P57679	p.Lys302Arg	rs1432388146	missense variant	-	NC_000004.12:g.5745307A>G	TOPMed
EVC	P57679	p.Lys302Glu	rs1172079164	missense variant	-	NC_000004.12:g.5745306A>G	TOPMed,gnomAD
EVC	P57679	p.Glu305Lys	rs772037385	missense variant	-	NC_000004.12:g.5745315G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Tyr306Cys	rs1478294705	missense variant	-	NC_000004.12:g.5745319A>G	TOPMed
EVC	P57679	p.Tyr306Ter	RCV000779446	nonsense	EVC-Related Disorders	NC_000004.12:g.5745320C>A	ClinVar
EVC	P57679	p.Ser307Cys	rs372548610	missense variant	-	NC_000004.12:g.5745322C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser307Pro	rs121908426	missense variant	-	NC_000004.12:g.5745321T>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser307Pro	rs121908426	missense variant	Acrofacial dysostosis, Weyers type (WAD)	NC_000004.12:g.5745321T>C	UniProt,dbSNP
EVC	P57679	p.Ser307Pro	VAR_009944	missense variant	Acrofacial dysostosis, Weyers type (WAD)	NC_000004.12:g.5745321T>C	UniProt
EVC	P57679	p.Ser307Pro	RCV000005671	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5745321T>C	ClinVar
EVC	P57679	p.Ser307Cys	RCV000366486	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5745322C>G	ClinVar
EVC	P57679	p.Ser307Cys	RCV000269572	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5745322C>G	ClinVar
EVC	P57679	p.Glu308Gly	rs1032117694	missense variant	-	NC_000004.12:g.5745325A>G	TOPMed,gnomAD
EVC	P57679	p.Gln309Ter	rs1365560975	stop gained	-	NC_000004.12:g.5745327C>T	gnomAD
EVC	P57679	p.Leu310Val	rs145300726	missense variant	-	NC_000004.12:g.5745330C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu310Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5745331T>G	NCI-TCGA
EVC	P57679	p.Leu310Val	RCV000689940	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745330C>G	ClinVar
EVC	P57679	p.Leu310Val	RCV000665471	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5745330C>G	ClinVar
EVC	P57679	p.Ile311Met	rs759718572	missense variant	-	NC_000004.12:g.5745335C>G	ExAC,gnomAD
EVC	P57679	p.Asp312Tyr	rs115275195	missense variant	-	NC_000004.12:g.5745336G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp312Gly	rs1396392046	missense variant	-	NC_000004.12:g.5745337A>G	gnomAD
EVC	P57679	p.Asp312Asn	rs115275195	missense variant	-	NC_000004.12:g.5745336G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp312Asn	RCV000327158	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5745336G>A	ClinVar
EVC	P57679	p.Asp312Asn	RCV000379481	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5745336G>A	ClinVar
EVC	P57679	p.Asn313Lys	rs764394644	missense variant	-	NC_000004.12:g.5745341T>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Met314Ile	rs757159611	missense variant	-	NC_000004.12:g.5748150G>A	ExAC,gnomAD
EVC	P57679	p.Met314Val	rs557010916	missense variant	-	NC_000004.12:g.5748148A>G	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Glu315Val	rs1387932988	missense variant	-	NC_000004.12:g.5748152A>T	gnomAD
EVC	P57679	p.Met321Ile	rs1338864424	missense variant	-	NC_000004.12:g.5748171G>C	gnomAD
EVC	P57679	p.Met321Thr	rs780972401	missense variant	-	NC_000004.12:g.5748170T>C	ExAC,gnomAD
EVC	P57679	p.Ile324Val	rs769651463	missense variant	-	NC_000004.12:g.5748178A>G	ExAC,gnomAD
EVC	P57679	p.Gln325Arg	COSM1430359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748182A>G	NCI-TCGA Cosmic
EVC	P57679	p.His326Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5748186C>G	NCI-TCGA
EVC	P57679	p.His326Pro	rs1449245290	missense variant	-	NC_000004.12:g.5748185A>C	TOPMed
EVC	P57679	p.Phe327Leu	rs1287282169	missense variant	-	NC_000004.12:g.5748187T>C	TOPMed
EVC	P57679	p.Leu328Phe	RCV000673224	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748190C>T	ClinVar
EVC	P57679	p.Leu328Phe	rs199916502	missense variant	-	NC_000004.12:g.5748190C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu328Pro	rs1224780540	missense variant	-	NC_000004.12:g.5748191T>C	gnomAD
EVC	P57679	p.Asp330Tyr	rs768854884	missense variant	-	NC_000004.12:g.5748196G>T	ExAC,gnomAD
EVC	P57679	p.Gln331Glu	rs1327792447	missense variant	-	NC_000004.12:g.5748199C>G	gnomAD
EVC	P57679	p.Phe332Tyr	rs1345794075	missense variant	-	NC_000004.12:g.5748203T>A	TOPMed
EVC	P57679	p.Lys333Gln	rs774625199	missense variant	-	NC_000004.12:g.5748205A>C	ExAC,gnomAD
EVC	P57679	p.Cys334Ser	rs762140246	missense variant	-	NC_000004.12:g.5748209G>C	ExAC,gnomAD
EVC	P57679	p.Ser335Pro	rs772431066	missense variant	-	NC_000004.12:g.5748211T>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser335Cys	rs1220070018	missense variant	-	NC_000004.12:g.5748212C>G	TOPMed
EVC	P57679	p.Ala339Thr	rs377390727	missense variant	-	NC_000004.12:g.5748223G>A	ESP,TOPMed
EVC	P57679	p.Arg340Ter	rs121908425	stop gained	-	NC_000004.12:g.5748226C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg340Ter	RCV000807465	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748226C>T	ClinVar
EVC	P57679	p.Arg340Ter	RCV000255270	nonsense	-	NC_000004.12:g.5748226C>T	ClinVar
EVC	P57679	p.Arg340Gln	rs775052481	missense variant	-	NC_000004.12:g.5748227G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg340Ter	RCV000516113	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000004.12:g.5748226C>T	ClinVar
EVC	P57679	p.Arg340Ter	RCV000005668	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748226C>T	ClinVar
EVC	P57679	p.Met343Val	rs763807443	missense variant	-	NC_000004.12:g.5748235A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Met343Thr	rs1414084679	missense variant	-	NC_000004.12:g.5748236T>C	gnomAD
EVC	P57679	p.Met344Thr	rs1332636947	missense variant	-	NC_000004.12:g.5748239T>C	gnomAD
EVC	P57679	p.Leu346Val	rs1388312435	missense variant	-	NC_000004.12:g.5748244C>G	gnomAD
EVC	P57679	p.Leu346Ter	RCV000414675	frameshift	-	NC_000004.12:g.5748242_5748243CT[1]	ClinVar
EVC	P57679	p.Thr347Met	RCV000595526	missense variant	-	NC_000004.12:g.5748248C>T	ClinVar
EVC	P57679	p.Thr347Met	rs34947207	missense variant	-	NC_000004.12:g.5748248C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Met350Val	rs1185144992	missense variant	-	NC_000004.12:g.5748256A>G	TOPMed
EVC	P57679	p.Met350Thr	rs1226015091	missense variant	-	NC_000004.12:g.5748257T>C	TOPMed,gnomAD
EVC	P57679	p.Ala352Val	rs750190123	missense variant	-	NC_000004.12:g.5748263C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala352Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5748262G>A	NCI-TCGA
EVC	P57679	p.Ala352Ser	COSM3775910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748262G>T	NCI-TCGA Cosmic
EVC	P57679	p.Glu354Ter	rs779915989	stop gained	-	NC_000004.12:g.5748268G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu354Ter	RCV000671655	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748264_5748267dup	ClinVar
EVC	P57679	p.Glu354Ter	RCV000807466	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748264_5748267dup	ClinVar
EVC	P57679	p.Glu354Ter	RCV000667721	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5748268G>T	ClinVar
EVC	P57679	p.Glu354Lys	rs779915989	missense variant	-	NC_000004.12:g.5748268G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly355Glu	rs755096874	missense variant	-	NC_000004.12:g.5748272G>A	ExAC,gnomAD
EVC	P57679	p.Gly355Arg	rs1276257484	missense variant	-	NC_000004.12:g.5748271G>A	gnomAD
EVC	P57679	p.Cys358Trp	rs921573510	missense variant	-	NC_000004.12:g.5748282C>G	TOPMed,gnomAD
EVC	P57679	p.Asp359Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5748283G>T	NCI-TCGA
EVC	P57679	p.Asp359Asn	rs150923920	missense variant	-	NC_000004.12:g.5748283G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp359Asn	RCV000302177	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5748283G>A	ClinVar
EVC	P57679	p.Asp359Asn	RCV000390980	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5748283G>A	ClinVar
EVC	P57679	p.Ser360Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5748287C>T	NCI-TCGA
EVC	P57679	p.Ser360Tyr	COSM1056306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748287C>A	NCI-TCGA Cosmic
EVC	P57679	p.Gln361Arg	rs886043999	missense variant	-	NC_000004.12:g.5748290A>G	TOPMed
EVC	P57679	p.Gln361His	rs772185282	missense variant	-	NC_000004.12:g.5748291G>C	ExAC,gnomAD
EVC	P57679	p.Gln361Arg	RCV000393137	missense variant	-	NC_000004.12:g.5748290A>G	ClinVar
EVC	P57679	p.Leu363Val	rs1233221140	missense variant	-	NC_000004.12:g.5748295C>G	TOPMed,gnomAD
EVC	P57679	p.Gln364Arg	rs1170972234	missense variant	-	NC_000004.12:g.5748299A>G	TOPMed,gnomAD
EVC	P57679	p.Ala365Asp	rs771462565	missense variant	-	NC_000004.12:g.5748302C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala365Thr	rs370388849	missense variant	-	NC_000004.12:g.5748301G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala365Ser	COSM6100779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748301G>T	NCI-TCGA Cosmic
EVC	P57679	p.Ala365Val	COSM4125305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5748302C>T	NCI-TCGA Cosmic
EVC	P57679	p.Asp367Gly	rs765215512	missense variant	-	NC_000004.12:g.5752837A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala368Thr	rs145645536	missense variant	-	NC_000004.12:g.5752839G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala368Asp	rs1314116531	missense variant	-	NC_000004.12:g.5752840C>A	gnomAD
EVC	P57679	p.Ala368Thr	RCV000345171	missense variant	-	NC_000004.12:g.5752839G>A	ClinVar
EVC	P57679	p.Leu369Pro	rs1429210509	missense variant	-	NC_000004.12:g.5752843T>C	TOPMed
EVC	P57679	p.Glu370Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5752845G>T	NCI-TCGA
EVC	P57679	p.Glu370Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5752847G>T	NCI-TCGA
EVC	P57679	p.Glu370Val	rs778032532	missense variant	-	NC_000004.12:g.5752846A>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu370Ala	rs778032532	missense variant	-	NC_000004.12:g.5752846A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg371Thr	rs1456808638	missense variant	-	NC_000004.12:g.5752849G>C	gnomAD
EVC	P57679	p.Arg371Ser	rs1160976282	missense variant	-	NC_000004.12:g.5752850G>C	TOPMed,gnomAD
EVC	P57679	p.Thr372Met	RCV000755524	missense variant	-	NC_000004.12:g.5752852C>T	ClinVar
EVC	P57679	p.Thr372Met	RCV000251776	missense variant	-	NC_000004.12:g.5752852C>T	ClinVar
EVC	P57679	p.Thr372Met	RCV000317189	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5752852C>T	ClinVar
EVC	P57679	p.Thr372Met	RCV000353262	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5752852C>T	ClinVar
EVC	P57679	p.Thr372Lys	rs28483498	missense variant	-	NC_000004.12:g.5752852C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr372Met	rs28483498	missense variant	-	NC_000004.12:g.5752852C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Met373Ile	rs1397539769	missense variant	-	NC_000004.12:g.5752856G>A	TOPMed,gnomAD
EVC	P57679	p.Met373Ile	rs1397539769	missense variant	-	NC_000004.12:g.5752856G>C	TOPMed,gnomAD
EVC	P57679	p.Met373Leu	rs1319469297	missense variant	-	NC_000004.12:g.5752854A>T	gnomAD
EVC	P57679	p.Met373Thr	rs746250083	missense variant	-	NC_000004.12:g.5752855T>C	ExAC,gnomAD
EVC	P57679	p.Gly374Glu	rs1313399444	missense variant	-	NC_000004.12:g.5752858G>A	gnomAD
EVC	P57679	p.Arg375Gln	rs780775899	missense variant	-	NC_000004.12:g.5752861G>A	ExAC,gnomAD
EVC	P57679	p.Arg375Trp	rs368492656	missense variant	-	NC_000004.12:g.5752860C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala376Val	rs142535134	missense variant	-	NC_000004.12:g.5752864C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala376Val	RCV000180707	missense variant	-	NC_000004.12:g.5752864C>T	ClinVar
EVC	P57679	p.His377Tyr	COSM4125308	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5752866C>T	NCI-TCGA Cosmic
EVC	P57679	p.Met378Val	rs952842883	missense variant	-	NC_000004.12:g.5752869A>G	TOPMed,gnomAD
EVC	P57679	p.Ala379Thr	rs760174792	missense variant	-	NC_000004.12:g.5752872G>A	ExAC,gnomAD
EVC	P57679	p.Ala379Glu	rs770580557	missense variant	-	NC_000004.12:g.5752873C>A	ExAC,gnomAD
EVC	P57679	p.Ala379Val	rs770580557	missense variant	-	NC_000004.12:g.5752873C>T	ExAC,gnomAD
EVC	P57679	p.Lys380Asn	rs1307577075	missense variant	-	NC_000004.12:g.5752877A>C	TOPMed
EVC	P57679	p.Val381Ala	rs1292131570	missense variant	-	NC_000004.12:g.5752879T>C	TOPMed
EVC	P57679	p.Ile382Thr	rs886059505	missense variant	-	NC_000004.12:g.5752882T>C	-
EVC	P57679	p.Ile382Thr	RCV000292576	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5752882T>C	ClinVar
EVC	P57679	p.Ile382Thr	RCV000386985	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5752882T>C	ClinVar
EVC	P57679	p.Glu383Gly	rs1201423468	missense variant	-	NC_000004.12:g.5752885A>G	gnomAD
EVC	P57679	p.Leu387Pro	rs200370960	missense variant	-	NC_000004.12:g.5752897T>C	1000Genomes
EVC	P57679	p.Gln388His	rs375511470	missense variant	-	NC_000004.12:g.5752901A>C	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Val389Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5752902G>A	NCI-TCGA
EVC	P57679	p.Glu392Asp	rs752626166	missense variant	-	NC_000004.12:g.5752913G>T	ExAC,gnomAD
EVC	P57679	p.Arg396Gly	rs762412181	missense variant	-	NC_000004.12:g.5752923C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg396Pro	rs542667023	missense variant	-	NC_000004.12:g.5752924G>C	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg396Gln	rs542667023	missense variant	-	NC_000004.12:g.5752924G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg396Trp	rs762412181	missense variant	-	NC_000004.12:g.5752923C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala399Thr	rs1462940541	missense variant	-	NC_000004.12:g.5752932G>A	TOPMed
EVC	P57679	p.Ile400Val	rs781622764	missense variant	-	NC_000004.12:g.5752935A>G	ExAC,gnomAD
EVC	P57679	p.Ser401Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5752939C>T	NCI-TCGA
EVC	P57679	p.His402Gln	rs756589627	missense variant	-	NC_000004.12:g.5752943C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.His402Tyr	rs1303234245	missense variant	-	NC_000004.12:g.5752941C>T	gnomAD
EVC	P57679	p.Gly403Ser	rs183114391	missense variant	-	NC_000004.12:g.5752944G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly403Arg	rs183114391	missense variant	-	NC_000004.12:g.5752944G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala408Pro	rs1430269582	missense variant	-	NC_000004.12:g.5752959G>C	TOPMed,gnomAD
EVC	P57679	p.Ala408Val	rs1351243545	missense variant	-	NC_000004.12:g.5752960C>T	gnomAD
EVC	P57679	p.Ala408Ser	rs1430269582	missense variant	-	NC_000004.12:g.5752959G>T	TOPMed,gnomAD
EVC	P57679	p.Ala408Thr	COSM4125310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5752959G>A	NCI-TCGA Cosmic
EVC	P57679	p.Gly411Arg	rs1015770093	missense variant	-	NC_000004.12:g.5752968G>C	TOPMed
EVC	P57679	p.Gly411Glu	rs749715176	missense variant	-	NC_000004.12:g.5752969G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu413Gln	rs1286728209	missense variant	-	NC_000004.12:g.5752975T>A	gnomAD
EVC	P57679	p.Ser414Phe	rs976762492	missense variant	-	NC_000004.12:g.5752978C>T	TOPMed
EVC	P57679	p.Gly415Arg	rs778330232	missense variant	-	NC_000004.12:g.5752980G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly415Arg	rs778330232	missense variant	-	NC_000004.12:g.5752980G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg416Trp	rs113986714	missense variant	-	NC_000004.12:g.5752983C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg416Gln	rs745640537	missense variant	-	NC_000004.12:g.5752984G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg416Gln	RCV000305653	missense variant	-	NC_000004.12:g.5752984G>A	ClinVar
EVC	P57679	p.Gln417Arg	rs1293538371	missense variant	-	NC_000004.12:g.5752987A>G	TOPMed
EVC	P57679	p.Glu420Lys	RCV000333682	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5752995G>A	ClinVar
EVC	P57679	p.Glu420Lys	RCV000388139	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5752995G>A	ClinVar
EVC	P57679	p.Glu420Asp	rs985917734	missense variant	-	NC_000004.12:g.5752997G>C	TOPMed,gnomAD
EVC	P57679	p.Glu420Lys	rs373502728	missense variant	-	NC_000004.12:g.5752995G>A	ESP,ExAC,gnomAD
EVC	P57679	p.Glu420Ter	rs373502728	stop gained	-	NC_000004.12:g.5752995G>T	ESP,ExAC,gnomAD
EVC	P57679	p.Leu421Val	rs775388162	missense variant	-	NC_000004.12:g.5752998C>G	ExAC,gnomAD
EVC	P57679	p.Thr423Met	rs764108542	missense variant	-	NC_000004.12:g.5753005C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln424His	rs1464342632	missense variant	-	NC_000004.12:g.5753009G>T	gnomAD
EVC	P57679	p.Lys427Arg	rs762053519	missense variant	-	NC_000004.12:g.5753017A>G	ExAC,gnomAD
EVC	P57679	p.Ala428Thr	rs767819783	missense variant	-	NC_000004.12:g.5753019G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala428Val	rs1409088904	missense variant	-	NC_000004.12:g.5753020C>T	gnomAD
EVC	P57679	p.Glu432Lys	rs1369739494	missense variant	-	NC_000004.12:g.5753031G>A	gnomAD
EVC	P57679	p.Ala433Gly	rs1300834404	missense variant	-	NC_000004.12:g.5753035C>G	gnomAD
EVC	P57679	p.Ala433Ser	rs374813665	missense variant	-	NC_000004.12:g.5753034G>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala433Val	rs1300834404	missense variant	-	NC_000004.12:g.5753035C>T	gnomAD
EVC	P57679	p.Arg435His	rs138898694	missense variant	-	NC_000004.12:g.5753041G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg435Cys	rs756430334	missense variant	-	NC_000004.12:g.5753040C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser437Thr	rs1275747678	missense variant	-	NC_000004.12:g.5753047G>C	TOPMed,gnomAD
EVC	P57679	p.Ser437Ile	rs1275747678	missense variant	-	NC_000004.12:g.5753047G>T	TOPMed,gnomAD
EVC	P57679	p.Arg438Gln	RCV000288633	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753050G>A	ClinVar
EVC	P57679	p.Arg438Gln	RCV000343630	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753050G>A	ClinVar
EVC	P57679	p.Arg438Leu	rs373718642	missense variant	-	NC_000004.12:g.5753050G>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg438Gly	rs754239541	missense variant	-	NC_000004.12:g.5753049C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg438Trp	rs754239541	missense variant	-	NC_000004.12:g.5753049C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg438Gln	rs373718642	missense variant	-	NC_000004.12:g.5753050G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg438Ter	RCV000693001	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753049del	ClinVar
EVC	P57679	p.Glu439Val	rs766679717	missense variant	-	NC_000004.12:g.5753785A>T	ExAC,gnomAD
EVC	P57679	p.Phe440Leu	rs1342709827	missense variant	-	NC_000004.12:g.5753787T>C	TOPMed
EVC	P57679	p.Phe440Leu	RCV000153203	missense variant	-	NC_000004.12:g.5753789T>A	ClinVar
EVC	P57679	p.Phe440Leu	RCV000397131	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753789T>A	ClinVar
EVC	P57679	p.Phe440Leu	RCV000290222	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753789T>A	ClinVar
EVC	P57679	p.Phe440Leu	rs60582583	missense variant	-	NC_000004.12:g.5753789T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Phe440Leu	RCV000548805	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753789T>A	ClinVar
EVC	P57679	p.Val441Ile	rs202150959	missense variant	-	NC_000004.12:g.5753790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln442Ter	rs753152908	stop gained	-	NC_000004.12:g.5753793C>T	ExAC,gnomAD
EVC	P57679	p.Arg443Gln	rs35953626	missense variant	-	NC_000004.12:g.5753797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg443Gln	rs35953626	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5753797G>A	UniProt,dbSNP
EVC	P57679	p.Arg443Gln	VAR_009946	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5753797G>A	UniProt
EVC	P57679	p.Arg443Gln	RCV000005670	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753797G>A	ClinVar
EVC	P57679	p.Lys445Gln	rs116952023	missense variant	-	NC_000004.12:g.5753802A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys445Gln	RCV000305375	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753802A>C	ClinVar
EVC	P57679	p.Lys445Gln	RCV000399659	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753802A>C	ClinVar
EVC	P57679	p.Asp446Tyr	rs1286504042	missense variant	-	NC_000004.12:g.5753805G>T	gnomAD
EVC	P57679	p.Thr449Ala	rs745395865	missense variant	-	NC_000004.12:g.5753814A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr449Lys	RCV000360127	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753815C>A	ClinVar
EVC	P57679	p.Thr449Lys	RCV000153204	missense variant	-	NC_000004.12:g.5753815C>A	ClinVar
EVC	P57679	p.Thr449Lys	rs2302075	missense variant	-	NC_000004.12:g.5753815C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr449Lys	rs2302075	missense variant	-	NC_000004.12:g.5753815C>A	UniProt,dbSNP
EVC	P57679	p.Thr449Lys	VAR_009947	missense variant	-	NC_000004.12:g.5753815C>A	UniProt
EVC	P57679	p.Thr449Met	rs2302075	missense variant	-	NC_000004.12:g.5753815C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr449Arg	rs2302075	missense variant	-	NC_000004.12:g.5753815C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr449Lys	RCV000390155	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753815C>A	ClinVar
EVC	P57679	p.Ala450Val	rs749008952	missense variant	-	NC_000004.12:g.5753818C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala450Val	RCV000306837	missense variant	-	NC_000004.12:g.5753818C>T	ClinVar
EVC	P57679	p.Ala450Glu	COSM3373523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5753818C>A	NCI-TCGA Cosmic
EVC	P57679	p.Ala453Gly	rs778599838	missense variant	-	NC_000004.12:g.5753827C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.His454Tyr	rs748062945	missense variant	-	NC_000004.12:g.5753829C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Val456Ala	rs773408319	missense variant	-	NC_000004.12:g.5753836T>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu457Lys	rs141859946	missense variant	-	NC_000004.12:g.5753838G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu457Lys	RCV000542079	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753838G>A	ClinVar
EVC	P57679	p.Gly458Ter	RCV000671758	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753842del	ClinVar
EVC	P57679	p.Thr459Arg	rs146028983	missense variant	-	NC_000004.12:g.5753845C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr459Met	rs146028983	missense variant	-	NC_000004.12:g.5753845C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala460Val	rs1309149029	missense variant	-	NC_000004.12:g.5753848C>T	TOPMed,gnomAD
EVC	P57679	p.Lys461Asn	rs202205463	missense variant	-	NC_000004.12:g.5753852A>C	1000Genomes,TOPMed
EVC	P57679	p.Thr463Arg	rs1473605830	missense variant	-	NC_000004.12:g.5753857C>G	gnomAD
EVC	P57679	p.Thr463Met	rs1473605830	missense variant	-	NC_000004.12:g.5753857C>T	gnomAD
EVC	P57679	p.Ala465Val	rs1388137619	missense variant	-	NC_000004.12:g.5753863C>T	gnomAD
EVC	P57679	p.Gln466Glu	rs753064604	missense variant	-	NC_000004.12:g.5753865C>G	ExAC,gnomAD
EVC	P57679	p.Glu467Ala	rs1448153672	missense variant	-	NC_000004.12:g.5753869A>C	TOPMed
EVC	P57679	p.Glu467Lys	rs763393820	missense variant	-	NC_000004.12:g.5753868G>A	ExAC,gnomAD
EVC	P57679	p.Glu468Asp	rs764643954	missense variant	-	NC_000004.12:g.5753873G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu469Lys	rs1448031323	missense variant	-	NC_000004.12:g.5753874G>A	gnomAD
EVC	P57679	p.Gln470Arg	rs779553464	missense variant	-	NC_000004.12:g.5753878A>G	ExAC,gnomAD
EVC	P57679	p.Arg471Lys	COSM447976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5753881G>A	NCI-TCGA Cosmic
EVC	P57679	p.Ser472Ter	RCV000534638	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753874_5753884dup	ClinVar
EVC	P57679	p.Phe473Leu	rs1391751541	missense variant	-	NC_000004.12:g.5753886T>C	TOPMed
EVC	P57679	p.Phe473Ter	RCV000756096	frameshift	-	NC_000004.12:g.5753885del	ClinVar
EVC	P57679	p.Leu474Pro	rs1452792407	missense variant	-	NC_000004.12:g.5753890T>C	TOPMed
EVC	P57679	p.Leu474Met	COSM3696696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5753889C>A	NCI-TCGA Cosmic
EVC	P57679	p.Ala475Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5753892G>T	NCI-TCGA
EVC	P57679	p.Glu476Asp	RCV000275335	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753897G>C	ClinVar
EVC	P57679	p.Glu476Asp	rs571637567	missense variant	-	NC_000004.12:g.5753897G>C	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu476Asp	RCV000330181	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753897G>C	ClinVar
EVC	P57679	p.Gln478Ter	rs778787222	stop gained	-	NC_000004.12:g.5753901C>T	ExAC,gnomAD
EVC	P57679	p.Pro479Leu	rs748009991	missense variant	-	NC_000004.12:g.5753905C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr480Ser	rs372893834	missense variant	-	NC_000004.12:g.5753908C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr480Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5753908C>T	NCI-TCGA
EVC	P57679	p.Ala481Pro	rs1484098544	missense variant	-	NC_000004.12:g.5753910G>C	TOPMed,gnomAD
EVC	P57679	p.Asp482Asn	rs1183020554	missense variant	-	NC_000004.12:g.5753913G>A	gnomAD
EVC	P57679	p.Asp482Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5753913G>T	NCI-TCGA
EVC	P57679	p.Pro483Leu	RCV000547448	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5753917C>T	ClinVar
EVC	P57679	p.Pro483Leu	rs376440801	missense variant	-	NC_000004.12:g.5753917C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys485Asn	rs754316550	missense variant	-	NC_000004.12:g.5753924G>C	gnomAD
EVC	P57679	p.Leu487Ile	COSM1430362	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5753928C>A	NCI-TCGA Cosmic
EVC	P57679	p.Glu488Ala	rs764556070	missense variant	-	NC_000004.12:g.5753932A>C	ExAC,gnomAD
EVC	P57679	p.Glu488Lys	rs146232611	missense variant	-	NC_000004.12:g.5753931G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu488Lys	RCV000276458	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753931G>A	ClinVar
EVC	P57679	p.Glu488Gly	rs764556070	missense variant	-	NC_000004.12:g.5753932A>G	ExAC,gnomAD
EVC	P57679	p.Glu488Lys	RCV000370878	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753931G>A	ClinVar
EVC	P57679	p.Glu488Gly	RCV000326791	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5753932A>G	ClinVar
EVC	P57679	p.Glu488Gly	RCV000381659	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5753932A>G	ClinVar
EVC	P57679	p.His491Arg	rs763914751	missense variant	-	NC_000004.12:g.5756271A>G	ExAC,gnomAD
EVC	P57679	p.His491Pro	rs763914751	missense variant	-	NC_000004.12:g.5756271A>C	ExAC,gnomAD
EVC	P57679	p.His491Gln	rs768749804	missense variant	-	NC_000004.12:g.5756272T>G	TOPMed,gnomAD
EVC	P57679	p.Glu492Ter	RCV000672495	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5756272dup	ClinVar
EVC	P57679	p.Glu495Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5756282G>T	NCI-TCGA
EVC	P57679	p.Glu495Gln	rs1223331343	missense variant	-	NC_000004.12:g.5756282G>C	gnomAD
EVC	P57679	p.Arg496Ser	rs1390748682	missense variant	-	NC_000004.12:g.5756287G>T	gnomAD
EVC	P57679	p.Gln497Ter	rs1460597472	stop gained	-	NC_000004.12:g.5756288C>T	gnomAD
EVC	P57679	p.Gln497Ter	RCV000779447	nonsense	EVC-Related Disorders	NC_000004.12:g.5756288C>T	ClinVar
EVC	P57679	p.Leu499Val	rs139157869	missense variant	-	NC_000004.12:g.5756294C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Met500Val	rs1390628791	missense variant	-	NC_000004.12:g.5756297A>G	gnomAD
EVC	P57679	p.Met500Ile	rs149898884	missense variant	-	NC_000004.12:g.5756299G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Met500Ile	RCV000603958	missense variant	-	NC_000004.12:g.5756299G>A	ClinVar
EVC	P57679	p.Gln501Glu	rs373088008	missense variant	-	NC_000004.12:g.5756300C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu505Gln	rs138171411	missense variant	-	NC_000004.12:g.5756312G>C	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Glu507Gly	rs202068809	missense variant	-	NC_000004.12:g.5756319A>G	ESP,TOPMed,gnomAD
EVC	P57679	p.Glu507Lys	rs749475050	missense variant	-	NC_000004.12:g.5756318G>A	ExAC,gnomAD
EVC	P57679	p.Glu507Gln	COSM4817131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5756318G>C	NCI-TCGA Cosmic
EVC	P57679	p.Glu508Gly	RCV000291987	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5756322A>G	ClinVar
EVC	P57679	p.Glu508Gly	RCV000328120	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5756322A>G	ClinVar
EVC	P57679	p.Glu508Gly	rs370721640	missense variant	-	NC_000004.12:g.5756322A>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Val510Leu	rs143971158	missense variant	-	NC_000004.12:g.5756327G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Val510Ala	rs748524352	missense variant	-	NC_000004.12:g.5756328T>C	ExAC,gnomAD
EVC	P57679	p.Val510Ile	rs143971158	missense variant	-	NC_000004.12:g.5756327G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Val510Ile	RCV000283807	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5756327G>A	ClinVar
EVC	P57679	p.Val510Ile	RCV000378158	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5756327G>A	ClinVar
EVC	P57679	p.Val510Ile	RCV000756095	missense variant	-	NC_000004.12:g.5756327G>A	ClinVar
EVC	P57679	p.Val510Ile	RCV000613661	missense variant	-	NC_000004.12:g.5756327G>A	ClinVar
EVC	P57679	p.Glu514Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5756339G>T	NCI-TCGA
EVC	P57679	p.Glu514Lys	rs141896077	missense variant	-	NC_000004.12:g.5756339G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu514Lys	RCV000260082	missense variant	-	NC_000004.12:g.5756339G>A	ClinVar
EVC	P57679	p.Glu514Ter	RCV000527392	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5756338del	ClinVar
EVC	P57679	p.Val517Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5756349T>G	NCI-TCGA
EVC	P57679	p.Leu519Ter	RCV000625588	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5756353dup	ClinVar
EVC	P57679	p.Gln521Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5756361A>G	NCI-TCGA
EVC	P57679	p.Gln521His	rs1162403519	missense variant	-	NC_000004.12:g.5756362G>C	gnomAD
EVC	P57679	p.Phe525Cys	rs771560788	missense variant	-	NC_000004.12:g.5783562T>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Phe525Leu	rs1472113917	missense variant	-	NC_000004.12:g.5783561T>C	gnomAD
EVC	P57679	p.Ser526Gly	rs781774727	missense variant	-	NC_000004.12:g.5783564A>G	ExAC,gnomAD
EVC	P57679	p.Val528Met	rs144252684	missense variant	-	NC_000004.12:g.5783570G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Val528Leu	rs144252684	missense variant	-	NC_000004.12:g.5783570G>C	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr530Ala	rs761329283	missense variant	-	NC_000004.12:g.5783576A>G	ExAC,gnomAD
EVC	P57679	p.Phe531Cys	rs1475565623	missense variant	-	NC_000004.12:g.5783580T>G	TOPMed,gnomAD
EVC	P57679	p.Phe531Leu	rs771775185	missense variant	-	NC_000004.12:g.5783581C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Phe531Leu	rs771775185	missense variant	-	NC_000004.12:g.5783581C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Phe531Ser	rs1475565623	missense variant	-	NC_000004.12:g.5783580T>C	TOPMed,gnomAD
EVC	P57679	p.Phe534Leu	rs760498505	missense variant	-	NC_000004.12:g.5783588T>C	ExAC,gnomAD
EVC	P57679	p.Phe534Leu	rs766294209	missense variant	-	NC_000004.12:g.5783590C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Val535Met	rs753720935	missense variant	-	NC_000004.12:g.5783591G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Val535Leu	rs753720935	missense variant	-	NC_000004.12:g.5783591G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu538Val	rs147772724	missense variant	-	NC_000004.12:g.5783600C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Phe539Leu	rs1262044602	missense variant	-	NC_000004.12:g.5783605C>A	TOPMed
EVC	P57679	p.Phe539Ser	rs1484590084	missense variant	-	NC_000004.12:g.5783604T>C	TOPMed
EVC	P57679	p.Thr542Met	rs764417990	missense variant	-	NC_000004.12:g.5783613C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu543Phe	rs751967791	missense variant	-	NC_000004.12:g.5783615C>T	ExAC,gnomAD
EVC	P57679	p.Gly545Cys	rs142600114	missense variant	-	NC_000004.12:g.5783621G>T	ESP,ExAC,gnomAD
EVC	P57679	p.Met546Val	RCV000280364	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5783624A>G	ClinVar
EVC	P57679	p.Met546Val	RCV000334261	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5783624A>G	ClinVar
EVC	P57679	p.Met546Val	rs112608085	missense variant	-	NC_000004.12:g.5783624A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Met546Ile	rs1225766769	missense variant	-	NC_000004.12:g.5783626G>T	TOPMed
EVC	P57679	p.Met546Val	RCV000756097	missense variant	-	NC_000004.12:g.5783624A>G	ClinVar
EVC	P57679	p.Met546Val	RCV000441601	missense variant	-	NC_000004.12:g.5783624A>G	ClinVar
EVC	P57679	p.Pro550Ala	rs778234206	missense variant	-	NC_000004.12:g.5783636C>G	ExAC,gnomAD
EVC	P57679	p.Pro550His	rs747739985	missense variant	-	NC_000004.12:g.5783637C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro551Ser	rs1255415484	missense variant	-	NC_000004.12:g.5783639C>T	TOPMed,gnomAD
EVC	P57679	p.Pro551Leu	rs371682994	missense variant	-	NC_000004.12:g.5783640C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro551Arg	rs371682994	missense variant	-	NC_000004.12:g.5783640C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro551Gln	rs371682994	missense variant	-	NC_000004.12:g.5783640C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro551Leu	RCV000792557	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783640C>T	ClinVar
EVC	P57679	p.Pro551Leu	RCV000591470	missense variant	-	NC_000004.12:g.5783640C>T	ClinVar
EVC	P57679	p.Pro551ArgPheSerTerUnk	COSM1430365	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5783635C>-	NCI-TCGA Cosmic
EVC	P57679	p.Glu553Gly	rs140567069	missense variant	-	NC_000004.12:g.5783646A>G	ESP,ExAC
EVC	P57679	p.Glu553Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5783646A>T	NCI-TCGA
EVC	P57679	p.GluCysAsp553GluTerUnk	rs1429789444	stop gained	-	NC_000004.12:g.5783650_5783651del	TOPMed
EVC	P57679	p.Glu553Asp	rs150425919	missense variant	-	NC_000004.12:g.5783647G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu553Lys	rs770649751	missense variant	-	NC_000004.12:g.5783645G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Tyr556Ser	rs200641549	missense variant	-	NC_000004.12:g.5783655A>C	gnomAD
EVC	P57679	p.Tyr556Ter	rs765269619	stop gained	-	NC_000004.12:g.5783656C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Tyr556Phe	rs200641549	missense variant	-	NC_000004.12:g.5783655A>T	gnomAD
EVC	P57679	p.Tyr556Ter	RCV000516024	nonsense	Ellis-van Creveld Syndrome	NC_000004.12:g.5783656C>G	ClinVar
EVC	P57679	p.Tyr556Cys	COSM1430366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5783655A>G	NCI-TCGA Cosmic
EVC	P57679	p.Leu557Phe	rs1376618009	missense variant	-	NC_000004.12:g.5783659G>C	TOPMed,gnomAD
EVC	P57679	p.Arg558Thr	rs775402958	missense variant	-	NC_000004.12:g.5783661G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg558Met	rs775402958	missense variant	-	NC_000004.12:g.5783661G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg558Lys	rs775402958	missense variant	-	NC_000004.12:g.5783661G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln559Arg	rs763159754	missense variant	-	NC_000004.12:g.5783664A>G	ExAC,gnomAD
EVC	P57679	p.Glu560Val	rs1444005675	missense variant	-	NC_000004.12:g.5783667A>T	gnomAD
EVC	P57679	p.Glu560Ter	rs764397417	stop gained	-	NC_000004.12:g.5783666G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu560Ter	RCV000668673	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783666G>T	ClinVar
EVC	P57679	p.Gln562Ter	rs751772225	stop gained	-	NC_000004.12:g.5783672C>T	ExAC,gnomAD
EVC	P57679	p.Gln562Arg	rs757556019	missense variant	-	NC_000004.12:g.5783673A>G	ExAC,gnomAD
EVC	P57679	p.Gln562Ter	RCV000537700	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783672C>T	ClinVar
EVC	P57679	p.Glu563Ter	rs539010490	stop gained	-	NC_000004.12:g.5783675G>T	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Glu563Lys	rs539010490	missense variant	-	NC_000004.12:g.5783675G>A	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Asn564Ser	rs1278366226	missense variant	-	NC_000004.12:g.5783679A>G	gnomAD
EVC	P57679	p.Asn564Lys	rs138242443	missense variant	-	NC_000004.12:g.5783680C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala565Val	rs141299077	missense variant	-	NC_000004.12:g.5783682C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala565Gly	rs141299077	missense variant	-	NC_000004.12:g.5783682C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala565Thr	rs926749491	missense variant	-	NC_000004.12:g.5783681G>A	TOPMed,gnomAD
EVC	P57679	p.Ala565Ter	RCV000804230	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783682del	ClinVar
EVC	P57679	p.Ala565Ter	RCV000666228	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5783682del	ClinVar
EVC	P57679	p.Ala566Pro	rs144943762	missense variant	-	NC_000004.12:g.5783684G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala566Thr	RCV000300276	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5783684G>A	ClinVar
EVC	P57679	p.Ala566Thr	RCV000400680	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5783684G>A	ClinVar
EVC	P57679	p.Ala566Thr	rs144943762	missense variant	-	NC_000004.12:g.5783684G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Trp567Ter	rs1468759490	stop gained	-	NC_000004.12:g.5783688G>A	gnomAD
EVC	P57679	p.Gln568Lys	rs1193301611	missense variant	-	NC_000004.12:g.5783690C>A	gnomAD
EVC	P57679	p.Gln568Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5783690C>T	NCI-TCGA
EVC	P57679	p.Leu569Val	rs138821019	missense variant	-	NC_000004.12:g.5783693C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asn573Asp	rs1373148885	missense variant	-	NC_000004.12:g.5783705A>G	gnomAD
EVC	P57679	p.Arg574Gly	rs141820870	missense variant	-	NC_000004.12:g.5783708C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg574Cys	rs141820870	missense variant	-	NC_000004.12:g.5783708C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg574His	rs1328905724	missense variant	-	NC_000004.12:g.5783709G>A	TOPMed,gnomAD
EVC	P57679	p.Arg574Leu	rs1328905724	missense variant	-	NC_000004.12:g.5783709G>T	TOPMed,gnomAD
EVC	P57679	p.Arg574Ser	rs141820870	missense variant	-	NC_000004.12:g.5783708C>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg576Leu	rs1383180	missense variant	-	NC_000004.12:g.5783715G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg576Gly	rs769614620	missense variant	-	NC_000004.12:g.5783714C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg576Trp	rs769614620	missense variant	-	NC_000004.12:g.5783714C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg576Gln	rs1383180	missense variant	-	NC_000004.12:g.5783715G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg576Gln	RCV000369969	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5783715G>A	ClinVar
EVC	P57679	p.Arg576Gln	RCV000254232	missense variant	-	NC_000004.12:g.5783715G>A	ClinVar
EVC	P57679	p.Arg576Gln	RCV000315414	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5783715G>A	ClinVar
EVC	P57679	p.Gln579His	rs768788576	missense variant	-	NC_000004.12:g.5783725G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu582Val	RCV000523262	missense variant	-	NC_000004.12:g.5783732C>G	ClinVar
EVC	P57679	p.Leu582Val	rs367863826	missense variant	-	NC_000004.12:g.5783732C>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Phe583Leu	rs1244390887	missense variant	-	NC_000004.12:g.5783737C>G	TOPMed
EVC	P57679	p.Leu586Ile	rs1301130028	missense variant	-	NC_000004.12:g.5783744C>A	gnomAD
EVC	P57679	p.Leu586His	rs1344456682	missense variant	-	NC_000004.12:g.5783745T>A	gnomAD
EVC	P57679	p.Gln591His	rs1224044727	missense variant	-	NC_000004.12:g.5783761G>C	gnomAD
EVC	P57679	p.Val593Glu	rs1205106531	missense variant	-	NC_000004.12:g.5793609T>A	TOPMed,gnomAD
EVC	P57679	p.Val593Met	rs150535483	missense variant	-	NC_000004.12:g.5793608G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Trp594Cys	rs950225821	missense variant	-	NC_000004.12:g.5793613G>T	gnomAD
EVC	P57679	p.Trp594Ter	rs1486916945	stop gained	-	NC_000004.12:g.5793612G>A	gnomAD
EVC	P57679	p.Met595Ile	rs1047264452	missense variant	-	NC_000004.12:g.5793616G>A	gnomAD
EVC	P57679	p.Met595Thr	COSM1486023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5793615T>C	NCI-TCGA Cosmic
EVC	P57679	p.Glu596Ala	rs1460341166	missense variant	-	NC_000004.12:g.5793618A>C	TOPMed
EVC	P57679	p.Glu597Ter	rs897410017	stop gained	-	NC_000004.12:g.5793620G>T	TOPMed
EVC	P57679	p.Ala599Val	rs887398519	missense variant	-	NC_000004.12:g.5793627C>T	TOPMed,gnomAD
EVC	P57679	p.Ala599Thr	rs1193571870	missense variant	-	NC_000004.12:g.5793626G>A	TOPMed
EVC	P57679	p.Leu600Pro	rs1382732614	missense variant	-	NC_000004.12:g.5793630T>C	gnomAD
EVC	P57679	p.Ser601Pro	rs755751747	missense variant	-	NC_000004.12:g.5793632T>C	ExAC
EVC	P57679	p.Ser602Arg	rs779847840	missense variant	-	NC_000004.12:g.5793635A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser602Ile	rs1313567958	missense variant	-	NC_000004.12:g.5793636G>T	gnomAD
EVC	P57679	p.Val603Met	RCV000261132	missense variant	-	NC_000004.12:g.5793638G>A	ClinVar
EVC	P57679	p.Val603Met	rs886042994	missense variant	-	NC_000004.12:g.5793638G>A	TOPMed,gnomAD
EVC	P57679	p.Leu604Gln	rs1309387390	missense variant	-	NC_000004.12:g.5793642T>A	TOPMed,gnomAD
EVC	P57679	p.Gln605Ter	rs1553889992	stop gained	-	NC_000004.12:g.5793644C>T	-
EVC	P57679	p.Gln605Ter	RCV000671523	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5793644C>T	ClinVar
EVC	P57679	p.His607Gln	rs779056864	missense variant	-	NC_000004.12:g.5793652C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.His607Gln	RCV000322242	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5793652C>G	ClinVar
EVC	P57679	p.His607Gln	RCV000376625	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5793652C>G	ClinVar
EVC	P57679	p.Arg609Gln	RCV000174617	missense variant	-	NC_000004.12:g.5793657G>A	ClinVar
EVC	P57679	p.Arg609Trp	rs748220728	missense variant	-	NC_000004.12:g.5793656C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg609Gln	rs41269557	missense variant	-	NC_000004.12:g.5793657G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp611Glu	rs1415619792	missense variant	-	NC_000004.12:g.5793664C>G	TOPMed
EVC	P57679	p.His612Pro	rs773199764	missense variant	-	NC_000004.12:g.5793666A>C	ExAC,gnomAD
EVC	P57679	p.His612Arg	rs773199764	missense variant	-	NC_000004.12:g.5793666A>G	ExAC,gnomAD
EVC	P57679	p.Glu613Asp	rs1419257094	missense variant	-	NC_000004.12:g.5793670G>C	TOPMed,gnomAD
EVC	P57679	p.Glu613Lys	rs1020877502	missense variant	-	NC_000004.12:g.5793668G>A	TOPMed,gnomAD
EVC	P57679	p.Ile616Val	rs1180841558	missense variant	-	NC_000004.12:g.5793677A>G	gnomAD
EVC	P57679	p.Arg617Cys	rs747207963	missense variant	-	NC_000004.12:g.5793680C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg617Ser	rs747207963	missense variant	-	NC_000004.12:g.5793680C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg617His	rs771110251	missense variant	-	NC_000004.12:g.5793681G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly618Ser	rs777024713	missense variant	-	NC_000004.12:g.5793683G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly618Asp	rs759962630	missense variant	-	NC_000004.12:g.5793684G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly618Ser	RCV000281932	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5793683G>A	ClinVar
EVC	P57679	p.Gly618Ser	RCV000373289	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5793683G>A	ClinVar
EVC	P57679	p.Val619Ile	RCV000174618	missense variant	-	NC_000004.12:g.5793686G>A	ClinVar
EVC	P57679	p.Val619Ile	rs111293777	missense variant	-	NC_000004.12:g.5793686G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu620Phe	rs1397510232	missense variant	-	NC_000004.12:g.5793691G>T	gnomAD
EVC	P57679	p.Arg622Gly	rs1329006994	missense variant	-	NC_000004.12:g.5793695C>G	TOPMed,gnomAD
EVC	P57679	p.Arg622Gln	rs767013073	missense variant	-	NC_000004.12:g.5793696G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg622Ter	rs1329006994	stop gained	-	NC_000004.12:g.5793695C>T	TOPMed,gnomAD
EVC	P57679	p.Leu623Pro	rs1373632260	missense variant	-	NC_000004.12:g.5793699T>C	gnomAD
EVC	P57679	p.Leu623Pro	RCV000668661	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5793699T>C	ClinVar
EVC	P57679	p.Gly625Ser	rs574626879	missense variant	-	NC_000004.12:g.5793704G>A	1000Genomes,TOPMed,gnomAD
EVC	P57679	p.Gly625Asp	rs1207445139	missense variant	-	NC_000004.12:g.5793705G>A	gnomAD
EVC	P57679	p.Leu626Phe	rs755767633	missense variant	-	NC_000004.12:g.5793707C>T	ExAC,gnomAD
EVC	P57679	p.Glu628Asp	rs1194874013	missense variant	-	NC_000004.12:g.5793715A>T	gnomAD
EVC	P57679	p.Glu629Asp	rs760166925	missense variant	-	NC_000004.12:g.5797022G>T	ExAC,gnomAD
EVC	P57679	p.Thr631Pro	rs374566317	missense variant	-	NC_000004.12:g.5797026A>C	ESP,ExAC,gnomAD
EVC	P57679	p.Thr631Met	rs139481521	missense variant	-	NC_000004.12:g.5797027C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr631Met	RCV000343430	missense variant	-	NC_000004.12:g.5797027C>T	ClinVar
EVC	P57679	p.Arg632Trp	rs368940435	missense variant	-	NC_000004.12:g.5797029C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg632Gln	rs535632933	missense variant	-	NC_000004.12:g.5797030G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Cys633Tyr	rs1419748236	missense variant	-	NC_000004.12:g.5797033G>A	gnomAD
EVC	P57679	p.Val634Phe	rs1275700686	missense variant	-	NC_000004.12:g.5797035G>T	TOPMed,gnomAD
EVC	P57679	p.Gln636Pro	rs757227773	missense variant	-	NC_000004.12:g.5797042A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln636Arg	rs757227773	missense variant	-	NC_000004.12:g.5797042A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly637Glu	rs781254333	missense variant	-	NC_000004.12:g.5797045G>A	ExAC,gnomAD
EVC	P57679	p.His638Arg	rs1483614570	missense variant	-	NC_000004.12:g.5797048A>G	TOPMed
EVC	P57679	p.Asp639Val	rs770025753	missense variant	-	NC_000004.12:g.5797051A>T	ExAC,gnomAD
EVC	P57679	p.Leu640Val	rs780372693	missense variant	-	NC_000004.12:g.5797053C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu642Phe	rs1191617444	missense variant	-	NC_000004.12:g.5797061G>C	gnomAD
EVC	P57679	p.Arg643Cys	rs749653724	missense variant	-	NC_000004.12:g.5797062C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg643Leu	rs144906677	missense variant	-	NC_000004.12:g.5797063G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg643His	rs144906677	missense variant	-	NC_000004.12:g.5797063G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg643Pro	rs144906677	missense variant	-	NC_000004.12:g.5797063G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg643His	RCV000174813	missense variant	-	NC_000004.12:g.5797063G>A	ClinVar
EVC	P57679	p.Ser644Leu	rs774775333	missense variant	-	NC_000004.12:g.5797066C>T	ExAC,gnomAD
EVC	P57679	p.Ala645Gly	rs1312460621	missense variant	-	NC_000004.12:g.5797069C>G	TOPMed
EVC	P57679	p.Leu646Val	rs762391134	missense variant	-	NC_000004.12:g.5797071C>G	ExAC,gnomAD
EVC	P57679	p.Arg647Pro	rs35401386	missense variant	-	NC_000004.12:g.5797075G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg647Gln	RCV000597585	missense variant	-	NC_000004.12:g.5797075G>A	ClinVar
EVC	P57679	p.Arg647Leu	rs35401386	missense variant	-	NC_000004.12:g.5797075G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg647Gln	rs35401386	missense variant	-	NC_000004.12:g.5797075G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg647Trp	rs770276380	missense variant	-	NC_000004.12:g.5797074C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg648Gly	rs1418345759	missense variant	-	NC_000004.12:g.5797077A>G	gnomAD
EVC	P57679	p.Leu651Phe	rs1295814362	missense variant	-	NC_000004.12:g.5797086C>T	gnomAD
EVC	P57679	p.Arg652His	rs765024763	missense variant	-	NC_000004.12:g.5797090G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg652Cys	rs759245991	missense variant	-	NC_000004.12:g.5797089C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly653Ser	rs762716384	missense variant	-	NC_000004.12:g.5797092G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala655Thr	rs149344570	missense variant	-	NC_000004.12:g.5797098G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala655Thr	RCV000757227	missense variant	-	NC_000004.12:g.5797098G>A	ClinVar
EVC	P57679	p.Ala657Pro	rs909084300	missense variant	-	NC_000004.12:g.5797104G>C	TOPMed,gnomAD
EVC	P57679	p.Ala657Thr	rs909084300	missense variant	-	NC_000004.12:g.5797104G>A	TOPMed,gnomAD
EVC	P57679	p.Thr658Asn	rs781199126	missense variant	-	NC_000004.12:g.5797108C>A	ExAC,gnomAD
EVC	P57679	p.Thr660Lys	rs550100215	missense variant	-	NC_000004.12:g.5797114C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr660Met	rs550100215	missense variant	-	NC_000004.12:g.5797114C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln661His	rs201123831	missense variant	-	NC_000004.12:g.5797118G>T	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Gln661Glu	rs1276607070	missense variant	-	NC_000004.12:g.5797116C>G	TOPMed
EVC	P57679	p.Arg663Pro	rs372089496	missense variant	-	NC_000004.12:g.5797123G>C	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg663Gln	rs372089496	missense variant	-	NC_000004.12:g.5797123G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg663Trp	rs867240492	missense variant	-	NC_000004.12:g.5797122C>T	TOPMed,gnomAD
EVC	P57679	p.Ser665Leu	rs375340438	missense variant	-	NC_000004.12:g.5797129C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys667Gln	rs776252465	missense variant	-	NC_000004.12:g.5797134A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys668Asn	rs759187395	missense variant	-	NC_000004.12:g.5797139G>T	ExAC,gnomAD
EVC	P57679	p.Lys668Asn	rs759187395	missense variant	-	NC_000004.12:g.5797139G>C	ExAC,gnomAD
EVC	P57679	p.Leu670His	rs1404936868	missense variant	-	NC_000004.12:g.5797144T>A	TOPMed
EVC	P57679	p.Leu670Val	rs1279993290	missense variant	-	NC_000004.12:g.5797143C>G	gnomAD
EVC	P57679	p.Gln672Ter	rs774949132	stop gained	-	NC_000004.12:g.5797149C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln672Arg	rs762671207	missense variant	-	NC_000004.12:g.5797150A>G	ExAC,gnomAD
EVC	P57679	p.Arg675Gln	rs143728868	missense variant	-	NC_000004.12:g.5797159G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg675Trp	rs372267517	missense variant	-	NC_000004.12:g.5797158C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu676Lys	rs367968708	missense variant	-	NC_000004.12:g.5797161G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg678Leu	rs750496555	missense variant	-	NC_000004.12:g.5797168G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg678Pro	rs750496555	missense variant	-	NC_000004.12:g.5797168G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg678Cys	rs767480367	missense variant	-	NC_000004.12:g.5797167C>T	ExAC,gnomAD
EVC	P57679	p.Arg678His	rs750496555	missense variant	-	NC_000004.12:g.5797168G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu681Gln	rs201877358	missense variant	-	NC_000004.12:g.5797176G>C	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu681Gly	rs1179899572	missense variant	-	NC_000004.12:g.5797177A>G	gnomAD
EVC	P57679	p.Glu681Lys	rs201877358	missense variant	-	NC_000004.12:g.5797176G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu681Asp	COSM4125342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5797178G>T	NCI-TCGA Cosmic
EVC	P57679	p.Gln682Glu	rs763683606	missense variant	-	NC_000004.12:g.5797179C>G	ExAC,gnomAD
EVC	P57679	p.Gly683Glu	rs573160908	missense variant	-	NC_000004.12:g.5797183G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser685Phe	rs778484721	missense variant	-	NC_000004.12:g.5797189C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Cys687Phe	rs769365090	missense variant	-	NC_000004.12:g.5797195G>T	ExAC,gnomAD
EVC	P57679	p.Cys687Tyr	rs769365090	missense variant	-	NC_000004.12:g.5797195G>A	ExAC,gnomAD
EVC	P57679	p.Leu688Met	rs775097507	missense variant	-	NC_000004.12:g.5797197C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp689Gly	rs748843712	missense variant	-	NC_000004.12:g.5797201A>G	ExAC,gnomAD
EVC	P57679	p.Glu690Gly	rs1273222229	missense variant	-	NC_000004.12:g.5797204A>G	gnomAD
EVC	P57679	p.Glu690Lys	rs773983356	missense variant	-	NC_000004.12:g.5797203G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu690Ala	rs1273222229	missense variant	-	NC_000004.12:g.5797204A>C	gnomAD
EVC	P57679	p.His691Tyr	rs1186502799	missense variant	-	NC_000004.12:g.5797206C>T	TOPMed,gnomAD
EVC	P57679	p.His691Asn	rs1186502799	missense variant	-	NC_000004.12:g.5797206C>A	TOPMed,gnomAD
EVC	P57679	p.Gln692Arg	rs1341542072	missense variant	-	NC_000004.12:g.5797210A>G	gnomAD
EVC	P57679	p.Trp693Cys	rs1344124533	missense variant	-	NC_000004.12:g.5797214G>C	TOPMed
EVC	P57679	p.Trp693Arg	rs1215431129	missense variant	-	NC_000004.12:g.5797212T>A	gnomAD
EVC	P57679	p.Arg697Ser	rs767425169	missense variant	-	NC_000004.12:g.5797226G>T	ExAC,gnomAD
EVC	P57679	p.Ala701Val	rs571809727	missense variant	-	NC_000004.12:g.5798590C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala701Val	RCV000305465	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798590C>T	ClinVar
EVC	P57679	p.Ala701Ser	rs1418368750	missense variant	-	NC_000004.12:g.5798589G>T	gnomAD
EVC	P57679	p.Ala701Glu	rs571809727	missense variant	-	NC_000004.12:g.5798590C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala701Val	RCV000264413	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798590C>T	ClinVar
EVC	P57679	p.Arg702Cys	RCV000260777	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798592C>T	ClinVar
EVC	P57679	p.Arg702Cys	RCV000360217	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798592C>T	ClinVar
EVC	P57679	p.Arg702His	rs200899957	missense variant	-	NC_000004.12:g.5798593G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg702Ser	rs545087909	missense variant	-	NC_000004.12:g.5798592C>A	TOPMed,gnomAD
EVC	P57679	p.Arg702Leu	rs200899957	missense variant	-	NC_000004.12:g.5798593G>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg702Gly	rs545087909	missense variant	-	NC_000004.12:g.5798592C>G	TOPMed,gnomAD
EVC	P57679	p.Arg702Cys	rs545087909	missense variant	-	NC_000004.12:g.5798592C>T	TOPMed,gnomAD
EVC	P57679	p.Val703Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5798596T>A	NCI-TCGA
EVC	P57679	p.Val703Met	rs759723939	missense variant	-	NC_000004.12:g.5798595G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu705Gly	rs765248751	missense variant	-	NC_000004.12:g.5798602A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu706Ala	rs752901623	missense variant	-	NC_000004.12:g.5798605A>C	ExAC,gnomAD
EVC	P57679	p.Ser708Asn	rs758724820	missense variant	-	NC_000004.12:g.5798611G>A	ExAC,gnomAD
EVC	P57679	p.Arg709Pro	rs752020764	missense variant	-	NC_000004.12:g.5798614G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg709Trp	rs764505769	missense variant	-	NC_000004.12:g.5798613C>T	ExAC,TOPMed
EVC	P57679	p.Arg709Gln	rs752020764	missense variant	-	NC_000004.12:g.5798614G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu710Pro	rs1216511929	missense variant	-	NC_000004.12:g.5798617T>C	gnomAD
EVC	P57679	p.Glu711Gly	rs373726507	missense variant	-	NC_000004.12:g.5798620A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu711Lys	rs1430134537	missense variant	-	NC_000004.12:g.5798619G>A	gnomAD
EVC	P57679	p.Glu712Asp	rs1487009045	missense variant	-	NC_000004.12:g.5798624G>C	gnomAD
EVC	P57679	p.Glu713Gln	rs781755628	missense variant	-	NC_000004.12:g.5798625G>C	ExAC,gnomAD
EVC	P57679	p.Ala714Gly	rs753274263	missense variant	-	NC_000004.12:g.5798629C>G	ExAC,gnomAD
EVC	P57679	p.Gln715Lys	rs971647538	missense variant	-	NC_000004.12:g.5798631C>A	TOPMed,gnomAD
EVC	P57679	p.Gln715Glu	rs971647538	missense variant	-	NC_000004.12:g.5798631C>G	TOPMed,gnomAD
EVC	P57679	p.Gln716His	rs1470506115	missense variant	-	NC_000004.12:g.5798636G>T	gnomAD
EVC	P57679	p.Thr717Ile	rs754450020	missense variant	-	NC_000004.12:g.5798638C>T	ExAC,gnomAD
EVC	P57679	p.Arg718Trp	rs778287269	missense variant	-	NC_000004.12:g.5798640C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg718Gln	rs747756961	missense variant	-	NC_000004.12:g.5798641G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln720Arg	rs375793050	missense variant	-	NC_000004.12:g.5798647A>G	ESP,TOPMed,gnomAD
EVC	P57679	p.Gln722Ter	rs1553891936	stop gained	-	NC_000004.12:g.5798652C>T	-
EVC	P57679	p.Gln722Ter	RCV000522119	nonsense	-	NC_000004.12:g.5798652C>T	ClinVar
EVC	P57679	p.Gln722Ter	RCV000674284	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5798652C>T	ClinVar
EVC	P57679	p.Gln723His	rs771731311	missense variant	-	NC_000004.12:g.5798657G>T	ExAC,gnomAD
EVC	P57679	p.Arg724Gln	rs537663112	missense variant	-	NC_000004.12:g.5798659G>A	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Arg724Trp	rs73077515	missense variant	-	NC_000004.12:g.5798658C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu725Phe	rs1227431641	missense variant	-	NC_000004.12:g.5798661C>T	TOPMed
EVC	P57679	p.Leu726Gln	rs776577907	missense variant	-	NC_000004.12:g.5798665T>A	ExAC,gnomAD
EVC	P57679	p.Leu726Ter	RCV000411885	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5798664dup	ClinVar
EVC	P57679	p.Glu728Lys	rs769878309	missense variant	-	NC_000004.12:g.5798670G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln730Arg	rs775736804	missense variant	-	NC_000004.12:g.5798677A>G	ExAC,gnomAD
EVC	P57679	p.Val732Met	rs763247420	missense variant	-	NC_000004.12:g.5798682G>A	ExAC,gnomAD
EVC	P57679	p.Val732Gly	rs1482763088	missense variant	-	NC_000004.12:g.5798683T>G	gnomAD
EVC	P57679	p.Gly733Glu	rs764450324	missense variant	-	NC_000004.12:g.5798686G>A	ExAC,gnomAD
EVC	P57679	p.Leu735Pro	rs762296832	missense variant	-	NC_000004.12:g.5798692T>C	ExAC,gnomAD
EVC	P57679	p.Gln737Pro	rs1177737631	missense variant	-	NC_000004.12:g.5798698A>C	gnomAD
EVC	P57679	p.His739Tyr	rs767786117	missense variant	-	NC_000004.12:g.5798703C>T	ExAC,gnomAD
EVC	P57679	p.Met740Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5798706A>G	NCI-TCGA
EVC	P57679	p.Glu741Lys	rs1017124177	missense variant	-	NC_000004.12:g.5798709G>A	TOPMed
EVC	P57679	p.Glu741Ala	COSM734031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5798710A>C	NCI-TCGA Cosmic
EVC	P57679	p.Ala743Val	rs1376630547	missense variant	-	NC_000004.12:g.5798716C>T	TOPMed
EVC	P57679	p.Ala743Thr	rs574651183	missense variant	-	NC_000004.12:g.5798715G>A	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Ile744Phe	rs756605293	missense variant	-	NC_000004.12:g.5798718A>T	ExAC,gnomAD
EVC	P57679	p.Ile744Val	rs756605293	missense variant	-	NC_000004.12:g.5798718A>G	ExAC,gnomAD
EVC	P57679	p.Ile744Thr	rs778342193	missense variant	-	NC_000004.12:g.5798719T>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly745Trp	rs752249506	missense variant	-	NC_000004.12:g.5798721G>T	ExAC,gnomAD
EVC	P57679	p.Gly745Arg	rs752249506	missense variant	-	NC_000004.12:g.5798721G>A	ExAC,gnomAD
EVC	P57679	p.Gln746Ter	rs1446547358	stop gained	-	NC_000004.12:g.5798724C>T	TOPMed,gnomAD
EVC	P57679	p.Gln746Ter	RCV000637036	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5798724C>T	ClinVar
EVC	P57679	p.Ala747Val	rs151091776	missense variant	-	NC_000004.12:g.5798728C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu749Val	rs1301432035	missense variant	-	NC_000004.12:g.5798733C>G	TOPMed,gnomAD
EVC	P57679	p.Val750Ala	rs1311084523	missense variant	-	NC_000004.12:g.5798737T>C	gnomAD
EVC	P57679	p.Val750Leu	rs1411776741	missense variant	-	NC_000004.12:g.5798736G>T	TOPMed
EVC	P57679	p.His751Arg	rs1230662303	missense variant	-	NC_000004.12:g.5798740A>G	TOPMed,gnomAD
EVC	P57679	p.Ala752Thr	rs1252737744	missense variant	-	NC_000004.12:g.5798742G>A	gnomAD
EVC	P57679	p.Arg753Gly	rs770696062	missense variant	-	NC_000004.12:g.5798745C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg753Gln	rs146739019	missense variant	-	NC_000004.12:g.5798746G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg753Leu	rs146739019	missense variant	-	NC_000004.12:g.5798746G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg753Trp	rs770696062	missense variant	-	NC_000004.12:g.5798745C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala756Ser	rs1191689703	missense variant	-	NC_000004.12:g.5798754G>T	gnomAD
EVC	P57679	p.Ala756Asp	rs1266821384	missense variant	-	NC_000004.12:g.5798755C>A	gnomAD
EVC	P57679	p.Lys758Asn	rs199611644	missense variant	-	NC_000004.12:g.5798762G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser759Asn	RCV000262359	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798764G>A	ClinVar
EVC	P57679	p.Ser759Asn	rs201776972	missense variant	-	NC_000004.12:g.5798764G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser759Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5798763A>T	NCI-TCGA
EVC	P57679	p.Ser759Thr	rs201776972	missense variant	-	NC_000004.12:g.5798764G>C	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser759Asn	RCV000331568	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798764G>A	ClinVar
EVC	P57679	p.Arg760Trp	RCV000296500	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798766C>T	ClinVar
EVC	P57679	p.Arg760Gln	RCV000332723	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798767G>A	ClinVar
EVC	P57679	p.Arg760Trp	RCV000386103	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5798766C>T	ClinVar
EVC	P57679	p.Arg760Trp	rs200479973	missense variant	-	NC_000004.12:g.5798766C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg760Gln	rs2279252	missense variant	-	NC_000004.12:g.5798767G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg760Gln	rs2279252	missense variant	-	NC_000004.12:g.5798767G>A	UniProt,dbSNP
EVC	P57679	p.Arg760Gln	VAR_009949	missense variant	-	NC_000004.12:g.5798767G>A	UniProt
EVC	P57679	p.Arg760Gln	RCV000382625	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5798767G>A	ClinVar
EVC	P57679	p.Asp763Gly	rs1288272995	missense variant	-	NC_000004.12:g.5798776A>G	TOPMed
EVC	P57679	p.Arg764Ser	rs1397126408	missense variant	-	NC_000004.12:g.5798780G>C	gnomAD
EVC	P57679	p.Asp765Gly	rs1408380648	missense variant	-	NC_000004.12:g.5798782A>G	TOPMed
EVC	P57679	p.Lys768Asn	rs1293427559	missense variant	-	NC_000004.12:g.5798792G>T	gnomAD
EVC	P57679	p.Thr770Ala	rs1295761643	missense variant	-	NC_000004.12:g.5801953A>G	gnomAD
EVC	P57679	p.Leu771Pro	rs373312910	missense variant	-	NC_000004.12:g.5801957T>C	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu771Met	rs763546632	missense variant	-	NC_000004.12:g.5801956C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Met772Ile	rs1225432816	missense variant	-	NC_000004.12:g.5801961G>A	gnomAD
EVC	P57679	p.Met772Val	rs1264370520	missense variant	-	NC_000004.12:g.5801959A>G	TOPMed
EVC	P57679	p.Ala774Val	rs767144263	missense variant	-	NC_000004.12:g.5801966C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu777Lys	rs780000441	missense variant	-	NC_000004.12:g.5801974G>A	ExAC,gnomAD
EVC	P57679	p.Val779Ile	rs376396220	missense variant	-	NC_000004.12:g.5801980G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Val779Phe	rs376396220	missense variant	-	NC_000004.12:g.5801980G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Tyr780Cys	rs773252806	missense variant	-	NC_000004.12:g.5801984A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Tyr780Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5801985C>A	NCI-TCGA
EVC	P57679	p.Tyr780Ser	rs773252806	missense variant	-	NC_000004.12:g.5801984A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Tyr780His	rs772327206	missense variant	-	NC_000004.12:g.5801983T>C	ExAC,gnomAD
EVC	P57679	p.Val781Met	RCV000339884	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5801986G>A	ClinVar
EVC	P57679	p.Val781Met	rs370514515	missense variant	-	NC_000004.12:g.5801986G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Val781Met	RCV000398397	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5801986G>A	ClinVar
EVC	P57679	p.Thr782Ile	rs374146790	missense variant	-	NC_000004.12:g.5801990C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser783Thr	rs760015762	missense variant	-	NC_000004.12:g.5801993G>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser783Asn	rs760015762	missense variant	-	NC_000004.12:g.5801993G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala784Thr	rs149537641	missense variant	-	NC_000004.12:g.5801995G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala784Thr	RCV000355126	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5801995G>A	ClinVar
EVC	P57679	p.Ala784Thr	RCV000304958	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5801995G>A	ClinVar
EVC	P57679	p.Arg788His	rs73795088	missense variant	-	NC_000004.12:g.5802008G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg788Cys	rs761286195	missense variant	-	NC_000004.12:g.5802007C>T	ExAC,gnomAD
EVC	P57679	p.Arg788Leu	rs73795088	missense variant	-	NC_000004.12:g.5802008G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg788His	RCV000555430	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5802008G>A	ClinVar
EVC	P57679	p.Val790Met	rs749975914	missense variant	-	NC_000004.12:g.5802013G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala792Glu	rs753732049	missense variant	-	NC_000004.12:g.5802020C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala792Val	rs753732049	missense variant	-	NC_000004.12:g.5802020C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ile797Met	rs202236029	missense variant	-	NC_000004.12:g.5802036C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ile797Val	rs1309436240	missense variant	-	NC_000004.12:g.5802034A>G	TOPMed,gnomAD
EVC	P57679	p.Gly798Arg	rs142738089	missense variant	-	NC_000004.12:g.5802037G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly798Arg	rs142738089	missense variant	-	NC_000004.12:g.5802037G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Met801Ile	rs1196026308	missense variant	-	NC_000004.12:g.5802048G>A	gnomAD
EVC	P57679	p.Met801Thr	rs1473199751	missense variant	-	NC_000004.12:g.5802047T>C	TOPMed,gnomAD
EVC	P57679	p.Met801Val	rs376241761	missense variant	-	NC_000004.12:g.5802046A>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Met801Arg	rs1473199751	missense variant	-	NC_000004.12:g.5802047T>G	TOPMed,gnomAD
EVC	P57679	p.Asp803Asn	rs1478086711	missense variant	-	NC_000004.12:g.5802052G>A	gnomAD
EVC	P57679	p.Glu805Gln	rs781506461	missense variant	-	NC_000004.12:g.5802058G>C	ExAC,gnomAD
EVC	P57679	p.Glu805Asp	RCV000269534	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5802060G>T	ClinVar
EVC	P57679	p.Glu805Lys	rs781506461	missense variant	-	NC_000004.12:g.5802058G>A	ExAC,gnomAD
EVC	P57679	p.Glu805Asp	rs886059506	missense variant	-	NC_000004.12:g.5802060G>T	-
EVC	P57679	p.Glu805Asp	RCV000327046	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5802060G>T	ClinVar
EVC	P57679	p.Glu806Asp	rs1299666972	missense variant	-	NC_000004.12:g.5802063G>T	TOPMed
EVC	P57679	p.Arg807Gly	rs746300042	missense variant	-	NC_000004.12:g.5802064A>G	ExAC,gnomAD
EVC	P57679	p.Arg807Thr	COSM3826037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5802065G>C	NCI-TCGA Cosmic
EVC	P57679	p.Lys808Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5802069A>C	NCI-TCGA
EVC	P57679	p.Leu809Arg	rs200839198	missense variant	-	NC_000004.12:g.5802071T>G	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Lys813Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5802084G>T	NCI-TCGA
EVC	P57679	p.Lys813Asn	rs771441586	missense variant	-	NC_000004.12:g.5802084G>C	ExAC,gnomAD
EVC	P57679	p.Leu815Val	rs772800724	missense variant	-	NC_000004.12:g.5802088C>G	ExAC,gnomAD
EVC	P57679	p.Gln816His	rs1342618312	missense variant	-	NC_000004.12:g.5802093G>T	gnomAD
EVC	P57679	p.Gln816Arg	rs558599051	missense variant	-	NC_000004.12:g.5802092A>G	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Gln816Ter	rs374752679	stop gained	-	NC_000004.12:g.5802091C>T	ESP,TOPMed,gnomAD
EVC	P57679	p.Gly817Cys	rs766172347	missense variant	-	NC_000004.12:g.5802094G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu818Asp	rs775144960	missense variant	-	NC_000004.12:g.5804734G>C	ExAC,gnomAD
EVC	P57679	p.Met820Ter	RCV000005673	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5804737del	ClinVar
EVC	P57679	p.Asn822Asp	rs763891488	missense variant	-	NC_000004.12:g.5804744A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Asn822Ser	rs1054189401	missense variant	-	NC_000004.12:g.5804745A>G	TOPMed
EVC	P57679	p.Asn822His	rs763891488	missense variant	-	NC_000004.12:g.5804744A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Tyr823His	rs761769488	missense variant	-	NC_000004.12:g.5804747T>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Tyr823Asp	rs761769488	missense variant	-	NC_000004.12:g.5804747T>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys824Gln	rs994935575	missense variant	-	NC_000004.12:g.5804750A>C	gnomAD
EVC	P57679	p.Leu825Met	rs767535365	missense variant	-	NC_000004.12:g.5804753C>A	ExAC,gnomAD
EVC	P57679	p.Arg826Gln	rs756255427	missense variant	-	NC_000004.12:g.5804757G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg826Trp	rs369800853	missense variant	-	NC_000004.12:g.5804756C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys828SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5804759A>-	NCI-TCGA
EVC	P57679	p.Leu831Arg	rs766686254	missense variant	-	NC_000004.12:g.5804772T>G	ExAC,gnomAD
EVC	P57679	p.Asn833Asp	rs754135892	missense variant	-	NC_000004.12:g.5804777A>G	ExAC,gnomAD
EVC	P57679	p.Pro834Leu	rs755309296	missense variant	-	NC_000004.12:g.5804781C>T	ExAC,gnomAD
EVC	P57679	p.Pro834Ser	rs1395596111	missense variant	-	NC_000004.12:g.5804780C>T	TOPMed
EVC	P57679	p.Ser835Ter	RCV000722826	nonsense	-	NC_000004.12:g.5804784C>A	ClinVar
EVC	P57679	p.Ser835Thr	rs1483123374	missense variant	-	NC_000004.12:g.5804783T>A	gnomAD
EVC	P57679	p.Ser835Leu	COSM1430370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5804784C>T	NCI-TCGA Cosmic
EVC	P57679	p.Ser836Ter	rs748620929	stop gained	-	NC_000004.12:g.5804787C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser836Leu	rs748620929	missense variant	-	NC_000004.12:g.5804787C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly837Ser	rs1160139769	missense variant	-	NC_000004.12:g.5804789G>A	TOPMed
EVC	P57679	p.Gly837Asp	rs1474071640	missense variant	-	NC_000004.12:g.5804790G>A	gnomAD
EVC	P57679	p.Arg839Gly	rs1002792571	missense variant	-	NC_000004.12:g.5804795A>G	TOPMed,gnomAD
EVC	P57679	p.Arg839Ser	rs769319527	missense variant	-	NC_000004.12:g.5804797G>T	ExAC,gnomAD
EVC	P57679	p.Arg839Lys	rs745451709	missense variant	-	NC_000004.12:g.5804796G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg839Met	rs745451709	missense variant	-	NC_000004.12:g.5804796G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Thr840Met	rs143464806	missense variant	-	NC_000004.12:g.5804799C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala841Val	rs1378303023	missense variant	-	NC_000004.12:g.5804802C>T	gnomAD
EVC	P57679	p.Gly842Ser	rs1446692986	missense variant	-	NC_000004.12:g.5804804G>A	gnomAD
EVC	P57679	p.Gly842Asp	rs768398433	missense variant	-	NC_000004.12:g.5804805G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly843Ser	rs774153178	missense variant	-	NC_000004.12:g.5804807G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala844Thr	rs541895869	missense variant	-	NC_000004.12:g.5804810G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.His845Gln	rs773156946	missense variant	-	NC_000004.12:g.5804815T>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln849Arg	rs1221419873	missense variant	-	NC_000004.12:g.5804826A>G	TOPMed
EVC	P57679	p.Gln849Glu	rs561852174	missense variant	-	NC_000004.12:g.5804825C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala850Val	rs150509782	missense variant	-	NC_000004.12:g.5804829C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.His852Leu	rs951188954	missense variant	-	NC_000004.12:g.5804835A>T	TOPMed,gnomAD
EVC	P57679	p.His852Asp	rs574669392	missense variant	-	NC_000004.12:g.5804834C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg854Gly	rs372917743	missense variant	-	NC_000004.12:g.5804840A>G	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu856Gln	rs150065352	missense variant	-	NC_000004.12:g.5808206T>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu856Met	COSM1056392	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5808205C>A	NCI-TCGA Cosmic
EVC	P57679	p.Gln859Arg	rs1264510675	missense variant	-	NC_000004.12:g.5808215A>G	TOPMed
EVC	P57679	p.Lys860Asn	rs1264987350	missense variant	-	NC_000004.12:g.5808219G>C	TOPMed,gnomAD
EVC	P57679	p.Phe862Val	rs1230001139	missense variant	-	NC_000004.12:g.5808223T>G	TOPMed
EVC	P57679	p.Phe862Leu	rs1327449417	missense variant	-	NC_000004.12:g.5808225C>A	TOPMed
EVC	P57679	p.Leu863Val	rs1333749968	missense variant	-	NC_000004.12:g.5808226C>G	TOPMed
EVC	P57679	p.Ala864Gly	rs770010759	missense variant	-	NC_000004.12:g.5808230C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala864Val	rs770010759	missense variant	-	NC_000004.12:g.5808230C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Phe866Leu	rs775791873	missense variant	-	NC_000004.12:g.5808235T>C	ExAC,gnomAD
EVC	P57679	p.Val868Met	rs763301589	missense variant	-	NC_000004.12:g.5808241G>A	ExAC,gnomAD
EVC	P57679	p.His869Tyr	rs764467481	missense variant	-	NC_000004.12:g.5808244C>T	ExAC,gnomAD
EVC	P57679	p.Met872Ile	rs1310991540	missense variant	-	NC_000004.12:g.5808255G>A	gnomAD
EVC	P57679	p.Arg873His	rs767972554	missense variant	-	NC_000004.12:g.5808257G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg873Cys	rs762346358	missense variant	-	NC_000004.12:g.5808256C>T	ExAC,gnomAD
EVC	P57679	p.Arg873Leu	rs767972554	missense variant	-	NC_000004.12:g.5808257G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.His875Leu	rs200403160	missense variant	-	NC_000004.12:g.5808263A>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.His875Tyr	rs1399011348	missense variant	-	NC_000004.12:g.5808262C>T	gnomAD
EVC	P57679	p.Ala876Thr	rs752304551	missense variant	-	NC_000004.12:g.5808265G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln877Glu	rs758038673	missense variant	-	NC_000004.12:g.5808268C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln877Lys	rs758038673	missense variant	-	NC_000004.12:g.5808268C>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln878His	rs757206813	missense variant	-	NC_000004.12:g.5808273G>T	ExAC,TOPMed
EVC	P57679	p.Gln879Ter	rs121908424	stop gained	-	NC_000004.12:g.5808274C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln879Ter	RCV000005667	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5808274C>T	ClinVar
EVC	P57679	p.Gln880Glu	rs745807857	missense variant	-	NC_000004.12:g.5808277C>G	ExAC,gnomAD
EVC	P57679	p.Ala881Ser	rs574700297	missense variant	-	NC_000004.12:g.5808280G>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala881Val	rs1478418087	missense variant	-	NC_000004.12:g.5808281C>T	TOPMed,gnomAD
EVC	P57679	p.Val883Asp	rs1172095316	missense variant	-	NC_000004.12:g.5808287T>A	gnomAD
EVC	P57679	p.Met884Thr	rs749497030	missense variant	-	NC_000004.12:g.5808290T>C	ExAC,gnomAD
EVC	P57679	p.Asp885Gly	rs540660500	missense variant	-	NC_000004.12:g.5808293A>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp885Asn	rs1241844907	missense variant	-	NC_000004.12:g.5808292G>A	gnomAD
EVC	P57679	p.Leu886Val	rs187506181	missense variant	-	NC_000004.12:g.5808295C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu887Val	rs767937586	missense variant	-	NC_000004.12:g.5808298C>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Glu888Asp	rs1161036004	missense variant	-	NC_000004.12:g.5808303A>T	gnomAD
EVC	P57679	p.Ala889Thr	COSM4895721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5808304G>A	NCI-TCGA Cosmic
EVC	P57679	p.Gln890Ter	RCV000666044	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5808307del	ClinVar
EVC	P57679	p.Gln890Lys	rs1156454852	missense variant	-	NC_000004.12:g.5808307C>A	gnomAD
EVC	P57679	p.Leu891Val	rs1360497935	missense variant	-	NC_000004.12:g.5808310C>G	TOPMed,gnomAD
EVC	P57679	p.Glu892Lys	rs773640948	missense variant	-	NC_000004.12:g.5808313G>A	ExAC,gnomAD
EVC	P57679	p.Thr893Ile	rs948949808	missense variant	-	NC_000004.12:g.5808317C>T	TOPMed,gnomAD
EVC	P57679	p.Gln894His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5808321G>C	NCI-TCGA
EVC	P57679	p.Leu895Val	rs1352902370	missense variant	-	NC_000004.12:g.5808322C>G	TOPMed
EVC	P57679	p.Gln896Ter	rs1326731095	stop gained	-	NC_000004.12:g.5808325C>T	TOPMed
EVC	P57679	p.Glu897Lys	rs369105803	missense variant	-	NC_000004.12:g.5809518G>A	ESP,ExAC,gnomAD
EVC	P57679	p.Gln900His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5809529G>T	NCI-TCGA
EVC	P57679	p.Gln900Glu	rs1039706882	missense variant	-	NC_000004.12:g.5809527C>G	TOPMed
EVC	P57679	p.Asn901Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5809531A>C	NCI-TCGA
EVC	P57679	p.Asn901Ile	rs939003422	missense variant	-	NC_000004.12:g.5809531A>T	TOPMed,gnomAD
EVC	P57679	p.Phe902Ser	rs1189233313	missense variant	-	NC_000004.12:g.5809534T>C	TOPMed
EVC	P57679	p.Ile903Val	rs143678893	missense variant	-	NC_000004.12:g.5809536A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ser904Cys	rs1258006198	missense variant	-	NC_000004.12:g.5809540C>G	gnomAD
EVC	P57679	p.Glu905Lys	rs892954050	missense variant	-	NC_000004.12:g.5809542G>A	TOPMed,gnomAD
EVC	P57679	p.Leu906Pro	rs1313721194	missense variant	-	NC_000004.12:g.5809546T>C	TOPMed
EVC	P57679	p.Ala910Thr	rs372956133	missense variant	-	NC_000004.12:g.5809557G>A	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Ala910Val	rs761553327	missense variant	-	NC_000004.12:g.5809558C>T	ExAC,gnomAD
EVC	P57679	p.Arg911Ter	rs767400887	stop gained	-	NC_000004.12:g.5809560C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg911Gln	rs930402783	missense variant	-	NC_000004.12:g.5809561G>A	gnomAD
EVC	P57679	p.Val912Glu	rs1171049525	missense variant	-	NC_000004.12:g.5809564T>A	TOPMed,gnomAD
EVC	P57679	p.Pro913Leu	rs148823298	missense variant	-	NC_000004.12:g.5809567C>T	-
EVC	P57679	p.Pro913Ser	rs140508599	missense variant	-	NC_000004.12:g.5809566C>T	ESP,TOPMed,gnomAD
EVC	P57679	p.Leu914Phe	RCV000399748	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5809569C>T	ClinVar
EVC	P57679	p.Leu914Phe	rs370825749	missense variant	-	NC_000004.12:g.5809569C>T	ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu914Phe	RCV000314837	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5809569C>T	ClinVar
EVC	P57679	p.Ala915Pro	rs1350522989	missense variant	-	NC_000004.12:g.5809572G>C	gnomAD
EVC	P57679	p.Lys918Ile	rs780194870	missense variant	-	NC_000004.12:g.5809582A>T	ExAC,gnomAD
EVC	P57679	p.Lys918Ter	rs780968816	stop gained	-	NC_000004.12:g.5809581A>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys918Arg	rs780194870	missense variant	-	NC_000004.12:g.5809582A>G	ExAC,gnomAD
EVC	P57679	p.Lys918Glu	rs780968816	missense variant	-	NC_000004.12:g.5809581A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys918Glu	RCV000269867	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5809581A>G	ClinVar
EVC	P57679	p.Lys918Glu	RCV000362580	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5809581A>G	ClinVar
EVC	P57679	p.Leu920Trp	rs548820371	missense variant	-	NC_000004.12:g.5809588T>G	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Ala922Val	rs779080824	missense variant	-	NC_000004.12:g.5809594C>T	ExAC,gnomAD
EVC	P57679	p.Ala922Pro	rs754946373	missense variant	-	NC_000004.12:g.5809593G>C	ExAC,gnomAD
EVC	P57679	p.Lys923Thr	rs748268896	missense variant	-	NC_000004.12:g.5809597A>C	ExAC,gnomAD
EVC	P57679	p.Arg924Cys	rs772327981	missense variant	-	NC_000004.12:g.5809599C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg924His	rs778108920	missense variant	-	NC_000004.12:g.5809600G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu927Gln	rs1392243130	missense variant	-	NC_000004.12:g.5809609T>A	TOPMed
EVC	P57679	p.Glu928Gly	rs561888939	missense variant	-	NC_000004.12:g.5810339A>G	gnomAD
EVC	P57679	p.Glu928Gln	rs1489027267	missense variant	-	NC_000004.12:g.5809611G>C	gnomAD
EVC	P57679	p.Glu928Asp	COSM1430372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5810340G>T	NCI-TCGA Cosmic
EVC	P57679	p.Leu931Pro	rs757581914	missense variant	-	NC_000004.12:g.5810348T>C	ExAC,gnomAD
EVC	P57679	p.Arg932Trp	rs781640041	missense variant	-	NC_000004.12:g.5810350A>T	ExAC,gnomAD
EVC	P57679	p.Arg932Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5810351G>T	NCI-TCGA
EVC	P57679	p.Thr933Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5810354C>T	NCI-TCGA
EVC	P57679	p.Thr933Ser	rs1335190832	missense variant	-	NC_000004.12:g.5810354C>G	TOPMed,gnomAD
EVC	P57679	p.Lys934Thr	rs200214299	missense variant	-	NC_000004.12:g.5810357A>C	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Lys937Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5810366A>C	NCI-TCGA
EVC	P57679	p.Pro938Ser	rs747715305	missense variant	-	NC_000004.12:g.5810368C>T	ExAC,gnomAD
EVC	P57679	p.Pro940Leu	rs772929452	missense variant	-	NC_000004.12:g.5810375C>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Pro940Ser	COSM1430373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5810374C>T	NCI-TCGA Cosmic
EVC	P57679	p.Gln941Ter	RCV000513812	nonsense	-	NC_000004.12:g.5810377C>T	ClinVar
EVC	P57679	p.Gln941Ter	rs896581899	stop gained	-	NC_000004.12:g.5810377C>T	TOPMed,gnomAD
EVC	P57679	p.Arg943Gly	rs760434057	missense variant	-	NC_000004.12:g.5810383A>G	ExAC,gnomAD
EVC	P57679	p.Asp945Gly	rs201797767	missense variant	-	NC_000004.12:g.5810390A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp945Ter	RCV000668915	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810383_5810384AG[1]	ClinVar
EVC	P57679	p.Leu946Val	rs1440423656	missense variant	-	NC_000004.12:g.5810392C>G	TOPMed,gnomAD
EVC	P57679	p.Leu946Arg	rs776536940	missense variant	-	NC_000004.12:g.5810393T>G	ExAC,TOPMed
EVC	P57679	p.Leu946Pro	COSM269121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5810393T>C	NCI-TCGA Cosmic
EVC	P57679	p.Gly947Val	rs765277897	missense variant	-	NC_000004.12:g.5810396G>T	ExAC,TOPMed,gnomAD
EVC	P57679	p.Val948Leu	rs752591755	missense variant	-	NC_000004.12:g.5810398G>T	ExAC,gnomAD
EVC	P57679	p.Val948Ter	RCV000669239	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810398dup	ClinVar
EVC	P57679	p.Val948CysPheSerTerUnkUnk	COSM3302396	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5810394G>-	NCI-TCGA Cosmic
EVC	P57679	p.Asn950Ile	rs760314747	missense variant	-	NC_000004.12:g.5810405A>T	gnomAD
EVC	P57679	p.Asn951Lys	rs371561252	missense variant	-	NC_000004.12:g.5810409T>G	ESP,gnomAD
EVC	P57679	p.Glu952Ter	rs758406345	stop gained	-	NC_000004.12:g.5810410G>T	ExAC,gnomAD
EVC	P57679	p.Asp953Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5810414A>G	NCI-TCGA
EVC	P57679	p.Asp953Glu	rs751735837	missense variant	-	NC_000004.12:g.5810415C>A	ExAC,gnomAD
EVC	P57679	p.Asp953Val	rs544720936	missense variant	-	NC_000004.12:g.5810414A>T	1000Genomes,ExAC,gnomAD
EVC	P57679	p.Asp953Gly	VAR_009950	Missense	-	-	UniProt
EVC	P57679	p.Leu954Val	rs1305591957	missense variant	-	NC_000004.12:g.5810416C>G	gnomAD
EVC	P57679	p.Gly957Arg	rs35926225	missense variant	-	NC_000004.12:g.5810425G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly957Arg	RCV000327257	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5810425G>A	ClinVar
EVC	P57679	p.Gly957Arg	rs35926225	missense variant	-	NC_000004.12:g.5810425G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly957Glu	rs1322589866	missense variant	-	NC_000004.12:g.5810426G>A	TOPMed,gnomAD
EVC	P57679	p.Gly957Arg	RCV000366129	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5810425G>A	ClinVar
EVC	P57679	p.Asp958Asn	RCV000321865	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5810428G>A	ClinVar
EVC	P57679	p.Asp958Asn	RCV000264485	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5810428G>A	ClinVar
EVC	P57679	p.Asp958Asn	rs35287723	missense variant	-	NC_000004.12:g.5810428G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp958Tyr	rs35287723	missense variant	-	NC_000004.12:g.5810428G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Gln959Glu	rs1259932360	missense variant	-	NC_000004.12:g.5810431C>G	gnomAD
EVC	P57679	p.Gln959Ter	rs1259932360	stop gained	-	NC_000004.12:g.5810431C>T	gnomAD
EVC	P57679	p.Thr960Ser	rs780548102	missense variant	-	NC_000004.12:g.5810435C>G	ExAC,gnomAD
EVC	P57679	p.Thr960Asn	rs780548102	missense variant	-	NC_000004.12:g.5810435C>A	ExAC,gnomAD
EVC	P57679	p.Ser961Leu	rs749814632	missense variant	-	NC_000004.12:g.5810438C>T	ExAC,gnomAD
EVC	P57679	p.Ser963Leu	rs200792019	missense variant	-	NC_000004.12:g.5810444C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC	P57679	p.Leu964Phe	rs1200375114	missense variant	-	NC_000004.12:g.5810446C>T	gnomAD
EVC	P57679	p.Ser965Cys	rs1479676242	missense variant	-	NC_000004.12:g.5810449A>T	gnomAD
EVC	P57679	p.Ser965Ter	RCV000667658	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810449dup	ClinVar
EVC	P57679	p.Ser965del	VAR_009951	inframe_deletion	-	-	UniProt
EVC	P57679	p.Lys967Arg	rs753263392	missense variant	-	NC_000004.12:g.5810958A>G	ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys967Asn	rs1381337375	missense variant	-	NC_000004.12:g.5810959A>C	TOPMed,gnomAD
EVC	P57679	p.Lys967Glu	rs1452806908	missense variant	-	NC_000004.12:g.5810957A>G	gnomAD
EVC	P57679	p.Arg968Lys	rs1453274701	missense variant	-	NC_000004.12:g.5810961G>A	gnomAD
EVC	P57679	p.Ser970Ile	rs756750818	missense variant	-	NC_000004.12:g.5810967G>T	ExAC,gnomAD
EVC	P57679	p.Gln971Pro	rs780590402	missense variant	-	NC_000004.12:g.5810970A>C	ExAC,gnomAD
EVC	P57679	p.Gln972Ter	rs1242343349	stop gained	-	NC_000004.12:g.5810972C>T	gnomAD
EVC	P57679	p.Glu973Ter	RCV000672575	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810974_5810993del	ClinVar
EVC	P57679	p.Ser974Ter	RCV000723261	frameshift	-	NC_000004.12:g.5810955_5810976dup	ClinVar
EVC	P57679	p.Ser974Ter	RCV000674172	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810978del	ClinVar
EVC	P57679	p.Ala976Pro	rs1015506431	missense variant	-	NC_000004.12:g.5810984G>C	TOPMed,gnomAD
EVC	P57679	p.Ala976Thr	rs1015506431	missense variant	-	NC_000004.12:g.5810984G>A	TOPMed,gnomAD
EVC	P57679	p.Gly977Glu	rs749142395	missense variant	-	NC_000004.12:g.5810988G>A	ExAC,TOPMed,gnomAD
EVC	P57679	p.Gly977Arg	rs779822434	missense variant	-	NC_000004.12:g.5810987G>A	ExAC,gnomAD
EVC	P57679	p.Gly977Glu	RCV000348991	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5810988G>A	ClinVar
EVC	P57679	p.Gly977Glu	RCV000280799	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5810988G>A	ClinVar
EVC	P57679	p.Asp978Asn	rs150173231	missense variant	-	NC_000004.12:g.5810990G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp978Tyr	rs150173231	missense variant	-	NC_000004.12:g.5810990G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Asp978Tyr	RCV000554752	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5810990G>T	ClinVar
EVC	P57679	p.Ser979Asn	rs761683022	missense variant	-	NC_000004.12:g.5810994G>A	ExAC,gnomAD
EVC	P57679	p.Gly980Arg	rs375360718	missense variant	-	NC_000004.12:g.5810996G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC	P57679	p.Lys984Ter	rs1156741604	stop gained	-	NC_000004.12:g.5811008A>T	gnomAD
EVC	P57679	p.Met985Thr	rs1258624511	missense variant	-	NC_000004.12:g.5811012T>C	TOPMed
EVC	P57679	p.Arg988Gly	rs777122018	missense variant	-	NC_000004.12:g.5811020A>G	ExAC,gnomAD
EVC	P57679	p.Arg989Lys	rs866836081	missense variant	-	NC_000004.12:g.5811024G>A	gnomAD
EVC	P57679	p.Arg989Ser	rs759914595	missense variant	-	NC_000004.12:g.5811025A>C	ExAC,TOPMed,gnomAD
EVC	P57679	p.Arg989Thr	rs866836081	missense variant	-	NC_000004.12:g.5811024G>C	gnomAD
EVC	P57679	p.Ser990Asn	rs1403739426	missense variant	-	NC_000004.12:g.5811027G>A	TOPMed,gnomAD
EVC	P57679	p.Ser990Ile	rs1403739426	missense variant	-	NC_000004.12:g.5811027G>T	TOPMed,gnomAD
EVC	P57679	p.Asn991Ser	rs765727621	missense variant	-	NC_000004.12:g.5811030A>G	ExAC,gnomAD
EVC	P57679	p.Asn991Asp	rs1444464669	missense variant	-	NC_000004.12:g.5811029A>G	gnomAD
EVC	P57679	p.Leu992Ser	rs1372947352	missense variant	-	NC_000004.12:g.5811033T>C	gnomAD
EVC	P57679	p.Ter993Gln	rs1222257047	stop lost	-	NC_000004.12:g.5811035T>C	gnomAD
LOXL3	P58215	p.Arg2Ter	rs370437226	stop gained	-	NC_000002.12:g.74552631G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg2Gln	rs748632204	missense variant	-	NC_000002.12:g.74552630C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val6Ala	rs753385364	missense variant	-	NC_000002.12:g.74552618A>G	ExAC,gnomAD
LOXL3	P58215	p.Trp7Arg	rs1184764688	missense variant	-	NC_000002.12:g.74552616A>G	gnomAD
LOXL3	P58215	p.Gln8Arg	rs1251364945	missense variant	-	NC_000002.12:g.74552612T>C	gnomAD
LOXL3	P58215	p.Gln8Lys	rs1473080063	missense variant	-	NC_000002.12:g.74552613G>T	gnomAD
LOXL3	P58215	p.Ser10Asn	rs1453420346	missense variant	-	NC_000002.12:g.74552606C>T	TOPMed,gnomAD
LOXL3	P58215	p.Pro11His	rs1210397222	missense variant	-	NC_000002.12:g.74552603G>T	gnomAD
LOXL3	P58215	p.Pro11Ser	rs761181300	missense variant	-	NC_000002.12:g.74552604G>A	ExAC,gnomAD
LOXL3	P58215	p.Pro11Thr	rs761181300	missense variant	-	NC_000002.12:g.74552604G>T	ExAC,gnomAD
LOXL3	P58215	p.Trp12Ser	rs1271103629	missense variant	-	NC_000002.12:g.74552600C>G	gnomAD
LOXL3	P58215	p.Gly13Val	rs767899612	missense variant	-	NC_000002.12:g.74552597C>A	ExAC,gnomAD
LOXL3	P58215	p.Gly13Arg	rs367916769	missense variant	-	NC_000002.12:g.74552598C>T	ESP,ExAC,gnomAD
LOXL3	P58215	p.Leu14Met	rs374069539	missense variant	-	NC_000002.12:g.74552595G>T	ESP,ExAC,TOPMed
LOXL3	P58215	p.Ser21Ile	rs1392912954	missense variant	-	NC_000002.12:g.74552573C>A	gnomAD
LOXL3	P58215	p.Ser22Leu	rs1161916684	missense variant	-	NC_000002.12:g.74552570G>A	gnomAD
LOXL3	P58215	p.Leu24Met	rs917981983	missense variant	-	NC_000002.12:g.74552565A>T	TOPMed,gnomAD
LOXL3	P58215	p.Pro27Ala	rs146972503	missense variant	-	NC_000002.12:g.74552556G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Pro27Leu	rs773238218	missense variant	-	NC_000002.12:g.74552555G>A	ExAC,gnomAD
LOXL3	P58215	p.Pro27Ala	RCV000244293	missense variant	-	NC_000002.12:g.74552556G>C	ClinVar
LOXL3	P58215	p.Ser28Cys	rs747921472	missense variant	-	NC_000002.12:g.74552552G>C	ExAC,gnomAD
LOXL3	P58215	p.Pro29His	rs1028685948	missense variant	-	NC_000002.12:g.74552549G>T	TOPMed
LOXL3	P58215	p.Thr31Ala	rs1413086034	missense variant	-	NC_000002.12:g.74552544T>C	TOPMed
LOXL3	P58215	p.Thr31Lys	rs754646119	missense variant	-	NC_000002.12:g.74552543G>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Thr31Pro	rs1413086034	missense variant	-	NC_000002.12:g.74552544T>G	TOPMed
LOXL3	P58215	p.Thr31Met	rs754646119	missense variant	-	NC_000002.12:g.74552543G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly32Ser	rs748837090	missense variant	-	NC_000002.12:g.74552541C>T	ExAC,gnomAD
LOXL3	P58215	p.Pro33Leu	rs1221755751	missense variant	-	NC_000002.12:g.74552537G>A	gnomAD
LOXL3	P58215	p.Pro33Ser	rs779618483	missense variant	-	NC_000002.12:g.74552538G>A	ExAC,gnomAD
LOXL3	P58215	p.Glu34Lys	rs755580751	missense variant	-	NC_000002.12:g.74552535C>T	ExAC,gnomAD
LOXL3	P58215	p.Ala37Pro	rs1247284618	missense variant	-	NC_000002.12:g.74552526C>G	TOPMed
LOXL3	P58215	p.Gly38Arg	rs767989657	missense variant	-	NC_000002.12:g.74552523C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly38Trp	rs767989657	missense variant	-	NC_000002.12:g.74552523C>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gln40Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74552517G>C	NCI-TCGA
LOXL3	P58215	p.Gly41Arg	rs751944822	missense variant	-	NC_000002.12:g.74552514C>T	ExAC,gnomAD
LOXL3	P58215	p.Arg43Gln	rs765433257	missense variant	-	NC_000002.12:g.74552507C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg43Trp	rs755080038	missense variant	-	NC_000002.12:g.74552508G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg45Gln	rs202057346	missense variant	-	NC_000002.12:g.74552501C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg45Trp	rs1429584079	missense variant	-	NC_000002.12:g.74552502G>A	TOPMed
LOXL3	P58215	p.Lys52Glu	rs1433412630	missense variant	-	NC_000002.12:g.74552481T>C	TOPMed
LOXL3	P58215	p.Lys52Met	COSM3583415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74552480T>A	NCI-TCGA Cosmic
LOXL3	P58215	p.Lys52Arg	rs954633340	missense variant	-	NC_000002.12:g.74552480T>C	TOPMed,gnomAD
LOXL3	P58215	p.Pro53Leu	rs1241356218	missense variant	-	NC_000002.12:g.74552477G>A	gnomAD
LOXL3	P58215	p.Tyr54His	rs773322576	missense variant	-	NC_000002.12:g.74552475A>G	ExAC,TOPMed
LOXL3	P58215	p.Tyr54Cys	rs1213377664	missense variant	-	NC_000002.12:g.74552474T>C	TOPMed,gnomAD
LOXL3	P58215	p.Glu55Asp	rs1364714746	missense variant	-	NC_000002.12:g.74552470C>G	TOPMed
LOXL3	P58215	p.Glu55Lys	rs1278906628	missense variant	-	NC_000002.12:g.74552472C>T	gnomAD
LOXL3	P58215	p.Glu55Ala	rs748016046	missense variant	-	NC_000002.12:g.74552471T>G	ExAC,gnomAD
LOXL3	P58215	p.Arg57Gly	rs373368024	missense variant	-	NC_000002.12:g.74552466G>C	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg57His	rs779522901	missense variant	-	NC_000002.12:g.74552465C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg57Cys	rs373368024	missense variant	-	NC_000002.12:g.74552466G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg57Leu	rs779522901	missense variant	-	NC_000002.12:g.74552465C>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val58Met	rs371316114	missense variant	-	NC_000002.12:g.74552463C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu59Lys	rs745346730	missense variant	-	NC_000002.12:g.74552460C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu59Ter	rs745346730	stop gained	-	NC_000002.12:g.74552460C>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg62Gln	rs543052981	missense variant	-	NC_000002.12:g.74552450C>T	gnomAD
LOXL3	P58215	p.Arg62Ter	rs150838046	stop gained	-	NC_000002.12:g.74552451G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg62Pro	rs543052981	missense variant	-	NC_000002.12:g.74552450C>G	gnomAD
LOXL3	P58215	p.Ala63Ser	rs1260692288	missense variant	-	NC_000002.12:g.74552448C>A	TOPMed
LOXL3	P58215	p.Glu65Val	rs751949995	missense variant	-	NC_000002.12:g.74552441T>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu65Ala	rs751949995	missense variant	-	NC_000002.12:g.74552441T>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly67Val	rs905074850	missense variant	-	NC_000002.12:g.74552435C>A	TOPMed
LOXL3	P58215	p.Gly67Asp	rs905074850	missense variant	-	NC_000002.12:g.74552435C>T	TOPMed
LOXL3	P58215	p.Thr68Ile	rs1045315730	missense variant	-	NC_000002.12:g.74552432G>A	TOPMed
LOXL3	P58215	p.Ile69Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74552429A>G	NCI-TCGA
LOXL3	P58215	p.Cys70Gly	COSM1023065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74552427A>C	NCI-TCGA Cosmic
LOXL3	P58215	p.Asp71Asn	rs143357774	missense variant	-	NC_000002.12:g.74552424C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Asp72Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74552419A>T	NCI-TCGA
LOXL3	P58215	p.Thr75Met	rs374759905	missense variant	-	NC_000002.12:g.74552411G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Leu76Val	rs1387914909	missense variant	-	NC_000002.12:g.74552409G>C	TOPMed
LOXL3	P58215	p.Ala78Val	rs1184647546	missense variant	-	NC_000002.12:g.74552402G>A	gnomAD
LOXL3	P58215	p.Ala79Thr	rs1436116054	missense variant	-	NC_000002.12:g.74552400C>T	TOPMed
LOXL3	P58215	p.His80Tyr	rs759757754	missense variant	-	NC_000002.12:g.74552397G>A	ExAC,gnomAD
LOXL3	P58215	p.Leu82Phe	rs1237794034	missense variant	-	NC_000002.12:g.74552391G>A	gnomAD
LOXL3	P58215	p.Arg84Gly	rs370340732	missense variant	-	NC_000002.12:g.74552385G>C	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg84Gln	rs372708796	missense variant	-	NC_000002.12:g.74552384C>T	1000Genomes,ExAC,gnomAD
LOXL3	P58215	p.Arg84Trp	rs370340732	missense variant	-	NC_000002.12:g.74552385G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu90Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74552365C>A	NCI-TCGA
LOXL3	P58215	p.Glu90Asp	rs774114007	missense variant	-	NC_000002.12:g.74552365C>G	ExAC,gnomAD
LOXL3	P58215	p.Glu90Gln	rs1271526877	missense variant	-	NC_000002.12:g.74552367C>G	gnomAD
LOXL3	P58215	p.Ala91Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74552363G>A	NCI-TCGA
LOXL3	P58215	p.Gly93Ala	rs762632876	missense variant	-	NC_000002.12:g.74552357C>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly93Asp	rs762632876	missense variant	-	NC_000002.12:g.74552357C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala98Thr	rs775248732	missense variant	-	NC_000002.12:g.74552343C>T	ExAC,gnomAD
LOXL3	P58215	p.Pro102Leu	rs1352551175	missense variant	-	NC_000002.12:g.74552330G>A	gnomAD
LOXL3	P58215	p.Pro102Arg	rs1352551175	missense variant	-	NC_000002.12:g.74552330G>C	gnomAD
LOXL3	P58215	p.Thr104Arg	rs917726288	missense variant	-	NC_000002.12:g.74552324G>C	TOPMed,gnomAD
LOXL3	P58215	p.Arg106His	rs73949682	missense variant	-	NC_000002.12:g.74550345C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg106Cys	rs770526303	missense variant	-	NC_000002.12:g.74550346G>A	ExAC,gnomAD
LOXL3	P58215	p.Arg106Leu	rs73949682	missense variant	-	NC_000002.12:g.74550345C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Asn111Ser	rs1381675584	missense variant	-	NC_000002.12:g.74550330T>C	gnomAD
LOXL3	P58215	p.Ser115Arg	rs1195873134	missense variant	-	NC_000002.12:g.74550317A>C	TOPMed
LOXL3	P58215	p.Glu118Lys	rs748631958	missense variant	-	NC_000002.12:g.74550310C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ser120Asn	rs755357456	missense variant	-	NC_000002.12:g.74550303C>T	ExAC,gnomAD
LOXL3	P58215	p.Thr122Ala	rs754132327	missense variant	-	NC_000002.12:g.74550298T>C	ExAC,gnomAD
LOXL3	P58215	p.Ser126Ala	rs1186343174	missense variant	-	NC_000002.12:g.74550286A>C	TOPMed
LOXL3	P58215	p.Arg127Gln	rs1015611082	missense variant	-	NC_000002.12:g.74550282C>T	TOPMed,gnomAD
LOXL3	P58215	p.Arg127Trp	rs1219893637	missense variant	-	NC_000002.12:g.74550283G>A	gnomAD
LOXL3	P58215	p.Gly128Asp	rs1438579657	missense variant	-	NC_000002.12:g.74550279C>T	gnomAD
LOXL3	P58215	p.Trp129Ter	rs750461615	stop gained	-	NC_000002.12:g.74550276C>T	ExAC,gnomAD
LOXL3	P58215	p.Gly130Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74550273C>T	NCI-TCGA
LOXL3	P58215	p.Ser132Gly	rs376265928	missense variant	-	NC_000002.12:g.74550268T>C	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Cys134Arg	rs1461859213	missense variant	-	NC_000002.12:g.74550262A>G	TOPMed
LOXL3	P58215	p.Thr135Met	rs762811068	missense variant	-	NC_000002.12:g.74550258G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Thr135Arg	rs762811068	missense variant	-	NC_000002.12:g.74550258G>C	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Thr135Lys	rs762811068	missense variant	-	NC_000002.12:g.74550258G>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Asp137Asn	rs759306602	missense variant	-	NC_000002.12:g.74550253C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Asp137His	rs759306602	missense variant	-	NC_000002.12:g.74550253C>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu138Lys	rs765944400	missense variant	-	NC_000002.12:g.74550250C>T	ExAC,gnomAD
LOXL3	P58215	p.Val142Phe	rs1247886962	missense variant	-	NC_000002.12:g.74550238C>A	TOPMed
LOXL3	P58215	p.Asp146Asn	rs760294558	missense variant	-	NC_000002.12:g.74550226C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gln147Ter	rs772615508	stop gained	-	NC_000002.12:g.74550223G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gln147Glu	rs772615508	missense variant	-	NC_000002.12:g.74550223G>C	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gln147Lys	rs772615508	missense variant	-	NC_000002.12:g.74550223G>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg148His	rs575389607	missense variant	-	NC_000002.12:g.74550219C>T	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg148Ser	rs373321712	missense variant	-	NC_000002.12:g.74550220G>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg148Cys	rs373321712	missense variant	-	NC_000002.12:g.74550220G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Pro150Thr	rs1211028948	missense variant	-	NC_000002.12:g.74550214G>T	gnomAD
LOXL3	P58215	p.Gly151Asp	rs769189437	missense variant	-	NC_000002.12:g.74550210C>T	ExAC,gnomAD
LOXL3	P58215	p.Ser153Leu	rs749635165	missense variant	-	NC_000002.12:g.74550204G>A	ExAC,gnomAD
LOXL3	P58215	p.Asn156Ser	rs756276203	missense variant	-	NC_000002.12:g.74550195T>C	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val157Ile	rs1296117039	missense variant	-	NC_000002.12:g.74550193C>T	gnomAD
LOXL3	P58215	p.Ile158Val	rs1163168814	missense variant	-	NC_000002.12:g.74550190T>C	gnomAD
LOXL3	P58215	p.Glu159Gly	rs1381447228	missense variant	-	NC_000002.12:g.74550186T>C	gnomAD
LOXL3	P58215	p.Val160Leu	rs559018104	missense variant	-	NC_000002.12:g.74549583C>G	1000Genomes,ExAC,gnomAD
LOXL3	P58215	p.Glu161Lys	rs755891381	missense variant	-	NC_000002.12:g.74549580C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.His162Arg	rs1249867066	missense variant	-	NC_000002.12:g.74549576T>C	gnomAD
LOXL3	P58215	p.Leu164Pro	rs1195206226	missense variant	-	NC_000002.12:g.74549570A>G	gnomAD
LOXL3	P58215	p.Gln165Arg	rs1337348227	missense variant	-	NC_000002.12:g.74549567T>C	gnomAD
LOXL3	P58215	p.Val166Met	rs540709903	missense variant	-	NC_000002.12:g.74549565C>T	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu167Asp	rs934234883	missense variant	-	NC_000002.12:g.74549560C>G	TOPMed,gnomAD
LOXL3	P58215	p.Arg172Gln	rs375565645	missense variant	-	NC_000002.12:g.74549546C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg172Ter	rs751096939	stop gained	-	NC_000002.12:g.74549547G>A	ExAC,gnomAD
LOXL3	P58215	p.Val175Ile	rs776024001	missense variant	-	NC_000002.12:g.74549538C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly176Val	rs199751441	missense variant	-	NC_000002.12:g.74549534C>A	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly176Glu	rs199751441	missense variant	-	NC_000002.12:g.74549534C>T	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Trp177Ter	rs776786029	stop gained	-	NC_000002.12:g.74549531C>T	ExAC,gnomAD
LOXL3	P58215	p.Gly178Asp	rs926024104	missense variant	-	NC_000002.12:g.74549528C>T	gnomAD
LOXL3	P58215	p.Arg179Lys	rs1470620333	missense variant	-	NC_000002.12:g.74549525C>T	TOPMed,gnomAD
LOXL3	P58215	p.Arg179Ile	rs1470620333	missense variant	-	NC_000002.12:g.74549525C>A	TOPMed,gnomAD
LOXL3	P58215	p.Arg179Gly	rs1161694184	missense variant	-	NC_000002.12:g.74549526T>C	TOPMed,gnomAD
LOXL3	P58215	p.Arg180Gln	rs771130039	missense variant	-	NC_000002.12:g.74549522C>T	ExAC,gnomAD
LOXL3	P58215	p.Pro181Leu	rs150977936	missense variant	-	NC_000002.12:g.74549519G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Pro183Thr	rs1024273215	missense variant	-	NC_000002.12:g.74549514G>T	TOPMed,gnomAD
LOXL3	P58215	p.Thr185Met	rs1467895088	missense variant	-	NC_000002.12:g.74549507G>A	gnomAD
LOXL3	P58215	p.Leu188Pro	rs749209218	missense variant	-	NC_000002.12:g.74549498A>G	ExAC,gnomAD
LOXL3	P58215	p.Val189Leu	rs1285411015	missense variant	-	NC_000002.12:g.74549496C>G	TOPMed
LOXL3	P58215	p.Val189Glu	rs1367577170	missense variant	-	NC_000002.12:g.74549495A>T	gnomAD
LOXL3	P58215	p.Val191Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74549489A>G	NCI-TCGA
LOXL3	P58215	p.Val191Ile	rs1348354520	missense variant	-	NC_000002.12:g.74549490C>T	TOPMed
LOXL3	P58215	p.Gly196Ser	rs201296491	missense variant	-	NC_000002.12:g.74549475C>T	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly196Arg	rs201296491	missense variant	-	NC_000002.12:g.74549475C>G	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly196Cys	rs201296491	missense variant	-	NC_000002.12:g.74549475C>A	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Trp197Ter	rs750226039	stop gained	-	NC_000002.12:g.74549471C>T	ExAC,gnomAD
LOXL3	P58215	p.Ser198Leu	rs1236265183	missense variant	-	NC_000002.12:g.74549468G>A	gnomAD
LOXL3	P58215	p.Ser198Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74549468G>C	NCI-TCGA
LOXL3	P58215	p.Cys201Ter	rs899044321	stop gained	-	NC_000002.12:g.74549458G>T	gnomAD
LOXL3	P58215	p.Gly204Ser	rs756979973	missense variant	-	NC_000002.12:g.74549451C>T	ExAC,gnomAD
LOXL3	P58215	p.Trp205Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74549446C>G	NCI-TCGA
LOXL3	P58215	p.Trp205Ter	rs751190820	stop gained	-	NC_000002.12:g.74549447C>T	ExAC,gnomAD
LOXL3	P58215	p.His208Gln	rs1007223061	missense variant	-	NC_000002.12:g.74549437G>C	gnomAD
LOXL3	P58215	p.His208Pro	rs763728218	missense variant	-	NC_000002.12:g.74549438T>G	ExAC
LOXL3	P58215	p.Val212Met	rs762502885	missense variant	-	NC_000002.12:g.74549427C>T	ExAC,gnomAD
LOXL3	P58215	p.Gly215Arg	rs1384532589	missense variant	-	NC_000002.12:g.74549418C>T	gnomAD
LOXL3	P58215	p.Leu217Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74549412G>T	NCI-TCGA
LOXL3	P58215	p.Leu217Val	rs753192396	missense variant	-	NC_000002.12:g.74549412G>C	ExAC,gnomAD
LOXL3	P58215	p.Gly218Asp	rs1479059838	missense variant	-	NC_000002.12:g.74549408C>T	gnomAD
LOXL3	P58215	p.Pro220Ser	rs765772693	missense variant	-	NC_000002.12:g.74549403G>A	ExAC,gnomAD
LOXL3	P58215	p.Glu222Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74549396T>G	NCI-TCGA
LOXL3	P58215	p.Glu222Lys	rs759876701	missense variant	-	NC_000002.12:g.74549397C>T	ExAC,gnomAD
LOXL3	P58215	p.Lys223Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74549394T>G	NCI-TCGA
LOXL3	P58215	p.Arg224Gly	rs886995147	missense variant	-	NC_000002.12:g.74549391T>C	TOPMed
LOXL3	P58215	p.Asn226Asp	rs1447301456	missense variant	-	NC_000002.12:g.74549385T>C	gnomAD
LOXL3	P58215	p.Asn226Ser	rs143485735	missense variant	-	NC_000002.12:g.74549384T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala227Val	rs760921521	missense variant	-	NC_000002.12:g.74549381G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala227Ser	rs771222328	missense variant	-	NC_000002.12:g.74549382C>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala227Thr	rs771222328	missense variant	-	NC_000002.12:g.74549382C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Tyr230Cys	rs1234268782	missense variant	-	NC_000002.12:g.74549372T>C	gnomAD
LOXL3	P58215	p.Arg231Trp	rs373973191	missense variant	-	NC_000002.12:g.74549370T>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Leu233Val	rs745848046	missense variant	-	NC_000002.12:g.74536924G>C	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg236Gln	rs746767459	missense variant	-	NC_000002.12:g.74536914C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg236Trp	rs200536773	missense variant	-	NC_000002.12:g.74536915G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.His239Tyr	rs1165931416	missense variant	-	NC_000002.12:g.74536906G>A	gnomAD
LOXL3	P58215	p.Ser240Cys	rs1476025076	missense variant	-	NC_000002.12:g.74536902G>C	gnomAD
LOXL3	P58215	p.His244Arg	rs1257799499	missense variant	-	NC_000002.12:g.74536890T>C	gnomAD
LOXL3	P58215	p.His244Gln	rs199982409	missense variant	-	NC_000002.12:g.74536889A>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val246Met	rs1171453817	missense variant	-	NC_000002.12:g.74536885C>T	TOPMed
LOXL3	P58215	p.Val249Met	rs778516841	missense variant	-	NC_000002.12:g.74536876C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly250Val	rs754394481	missense variant	-	NC_000002.12:g.74536872C>A	ExAC,gnomAD
LOXL3	P58215	p.Thr251Met	rs375983669	missense variant	-	NC_000002.12:g.74536869G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala253Val	rs1375675422	missense variant	-	NC_000002.12:g.74536863G>A	gnomAD
LOXL3	P58215	p.His254Asp	rs1298802352	missense variant	-	NC_000002.12:g.74536861G>C	TOPMed,gnomAD
LOXL3	P58215	p.His254Tyr	rs1298802352	missense variant	-	NC_000002.12:g.74536861G>A	TOPMed,gnomAD
LOXL3	P58215	p.Leu255Val	rs750770185	missense variant	-	NC_000002.12:g.74536858G>C	ExAC,gnomAD
LOXL3	P58215	p.Leu255Phe	rs750770185	missense variant	-	NC_000002.12:g.74536858G>A	ExAC,gnomAD
LOXL3	P58215	p.Cys258Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.74536847A>T	NCI-TCGA
LOXL3	P58215	p.Ser259Pro	COSM282463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536846A>G	NCI-TCGA Cosmic
LOXL3	P58215	p.Leu260Arg	rs767712589	missense variant	-	NC_000002.12:g.74536842A>C	ExAC,gnomAD
LOXL3	P58215	p.Leu260Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74536842A>G	NCI-TCGA
LOXL3	P58215	p.Tyr263Cys	rs371775212	missense variant	-	NC_000002.12:g.74536833T>C	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg264His	rs370157678	missense variant	-	NC_000002.12:g.74536830C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg264Cys	rs774395905	missense variant	-	NC_000002.12:g.74536831G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Asn266Ser	rs139468475	missense variant	-	NC_000002.12:g.74536824T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Asp267Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74536821T>A	NCI-TCGA
LOXL3	P58215	p.Ala269Gly	rs1177269714	missense variant	-	NC_000002.12:g.74536815G>C	gnomAD
LOXL3	P58215	p.Ala269Thr	rs770980565	missense variant	-	NC_000002.12:g.74536816C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg270Ser	rs746887803	missense variant	-	NC_000002.12:g.74536811C>A	ExAC,gnomAD
LOXL3	P58215	p.Pro272Arg	rs1216048852	missense variant	-	NC_000002.12:g.74536806G>C	gnomAD
LOXL3	P58215	p.Gly273Val	rs368213503	missense variant	-	NC_000002.12:g.74536803C>A	ESP,TOPMed,gnomAD
LOXL3	P58215	p.Gly273Trp	rs1192497341	missense variant	-	NC_000002.12:g.74536804C>A	TOPMed
LOXL3	P58215	p.Gly274Arg	rs1212115196	missense variant	-	NC_000002.12:g.74536801C>T	gnomAD
LOXL3	P58215	p.Gly274Glu	COSM3910674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536800C>T	NCI-TCGA Cosmic
LOXL3	P58215	p.Gly275Cys	rs778411968	missense variant	-	NC_000002.12:g.74536798C>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly275Ala	rs1223302011	missense variant	-	NC_000002.12:g.74536797C>G	gnomAD
LOXL3	P58215	p.Gly275AlaPheSerTerUnk	rs746133895	frameshift	-	NC_000002.12:g.74536797C>-	NCI-TCGA,NCI-TCGA Cosmic
LOXL3	P58215	p.Gly275Arg	rs778411968	missense variant	-	NC_000002.12:g.74536798C>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Pro276LeuPheSerTerUnk	COSM1023063	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.74536794G>-	NCI-TCGA Cosmic
LOXL3	P58215	p.Val278Ala	rs573740131	missense variant	-	NC_000002.12:g.74536788A>G	1000Genomes,ExAC,gnomAD
LOXL3	P58215	p.Val279Gly	rs756624083	missense variant	-	NC_000002.12:g.74536785A>C	ExAC,gnomAD
LOXL3	P58215	p.Val279Met	rs780593318	missense variant	-	NC_000002.12:g.74536786C>T	ExAC,gnomAD
LOXL3	P58215	p.Ser280Ile	rs1324959069	missense variant	-	NC_000002.12:g.74536782C>A	gnomAD
LOXL3	P58215	p.Ser280Gly	COSM3910673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536783T>C	NCI-TCGA Cosmic
LOXL3	P58215	p.Cys281Ser	rs1175338195	missense variant	-	NC_000002.12:g.74536779C>G	TOPMed
LOXL3	P58215	p.Gly284Asp	rs750858016	missense variant	-	NC_000002.12:g.74536770C>T	ExAC,gnomAD
LOXL3	P58215	p.Gly284Val	rs750858016	missense variant	-	NC_000002.12:g.74536770C>A	ExAC,gnomAD
LOXL3	P58215	p.Tyr287Cys	rs757513331	missense variant	-	NC_000002.12:g.74536761T>C	ExAC,gnomAD
LOXL3	P58215	p.Ala288Val	rs186579568	missense variant	-	NC_000002.12:g.74536758G>A	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala288Thr	rs764189744	missense variant	-	NC_000002.12:g.74536759C>T	ExAC,gnomAD
LOXL3	P58215	p.Gly292Asp	rs1487018529	missense variant	-	NC_000002.12:g.74536746C>T	gnomAD
LOXL3	P58215	p.Lys295Gln	rs377049786	missense variant	-	NC_000002.12:g.74536738T>G	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Lys295Glu	rs377049786	missense variant	-	NC_000002.12:g.74536738T>C	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gln297Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74536732G>C	NCI-TCGA
LOXL3	P58215	p.Gln298Pro	rs966618502	missense variant	-	NC_000002.12:g.74536728T>G	TOPMed,gnomAD
LOXL3	P58215	p.Gln298Ter	rs1371636666	stop gained	-	NC_000002.12:g.74536729G>A	gnomAD
LOXL3	P58215	p.Ser299Leu	rs1020801673	missense variant	-	NC_000002.12:g.74536725G>A	TOPMed,gnomAD
LOXL3	P58215	p.Ser299Pro	rs1384877002	missense variant	-	NC_000002.12:g.74536726A>G	gnomAD
LOXL3	P58215	p.Lys300IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.74536722_74536723insA	NCI-TCGA
LOXL3	P58215	p.Gln302His	rs1358134591	missense variant	-	NC_000002.12:g.74536715C>G	TOPMed,gnomAD
LOXL3	P58215	p.Gly303Trp	rs1254326849	missense variant	-	NC_000002.12:g.74536714C>A	gnomAD
LOXL3	P58215	p.Glu304Ter	rs1434720691	stop gained	-	NC_000002.12:g.74536711C>A	gnomAD
LOXL3	P58215	p.Arg306His	rs190924518	missense variant	-	NC_000002.12:g.74536467C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg306Pro	rs190924518	missense variant	-	NC_000002.12:g.74536467C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg306Cys	rs753208381	missense variant	-	NC_000002.12:g.74536468G>A	TOPMed
LOXL3	P58215	p.Val307Ile	rs777259784	missense variant	-	NC_000002.12:g.74536465C>T	ExAC,gnomAD
LOXL3	P58215	p.Arg308His	rs1315777875	missense variant	-	NC_000002.12:g.74536461C>T	TOPMed,gnomAD
LOXL3	P58215	p.Arg308Cys	rs551168798	missense variant	-	NC_000002.12:g.74536462G>A	TOPMed,gnomAD
LOXL3	P58215	p.Leu309Pro	rs1338721909	missense variant	-	NC_000002.12:g.74536458A>G	TOPMed
LOXL3	P58215	p.Lys310Thr	rs771328763	missense variant	-	NC_000002.12:g.74536455T>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly312Ser	rs747485090	missense variant	-	NC_000002.12:g.74536450C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly312Asp	rs1354324410	missense variant	-	NC_000002.12:g.74536449C>T	gnomAD
LOXL3	P58215	p.Ala313Thr	rs758787890	missense variant	-	NC_000002.12:g.74536447C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.His314Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74536444G>C	NCI-TCGA
LOXL3	P58215	p.His314Asn	rs1397843593	missense variant	-	NC_000002.12:g.74536444G>T	gnomAD
LOXL3	P58215	p.His314Gln	rs748431088	missense variant	-	NC_000002.12:g.74536442G>T	ExAC,gnomAD
LOXL3	P58215	p.Gly316Glu	rs755179913	missense variant	-	NC_000002.12:g.74536437C>T	ExAC,gnomAD
LOXL3	P58215	p.Gly316Arg	COSM115719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536438C>G	NCI-TCGA Cosmic
LOXL3	P58215	p.Gly316Val	rs755179913	missense variant	-	NC_000002.12:g.74536437C>A	ExAC,gnomAD
LOXL3	P58215	p.Glu317Lys	rs753852653	missense variant	-	NC_000002.12:g.74536435C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu317Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74536433C>A	NCI-TCGA
LOXL3	P58215	p.Glu317Asp	rs1190465936	missense variant	-	NC_000002.12:g.74536433C>G	TOPMed
LOXL3	P58215	p.Arg319Gln	rs766420467	missense variant	-	NC_000002.12:g.74536428C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg319Trp	rs1474992303	missense variant	-	NC_000002.12:g.74536429G>A	gnomAD
LOXL3	P58215	p.Val320Leu	rs1419686797	missense variant	-	NC_000002.12:g.74536426C>A	gnomAD
LOXL3	P58215	p.Val322Ile	rs1251179417	missense variant	-	NC_000002.12:g.74536420C>T	gnomAD
LOXL3	P58215	p.Leu323Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74536417G>T	NCI-TCGA
LOXL3	P58215	p.Lys324Arg	rs751469919	missense variant	-	NC_000002.12:g.74536413T>C	ExAC,gnomAD
LOXL3	P58215	p.Ala325Pro	rs1372808477	missense variant	-	NC_000002.12:g.74536411C>G	TOPMed
LOXL3	P58215	p.Trp328Leu	rs762713525	missense variant	-	NC_000002.12:g.74536401C>A	ExAC,gnomAD
LOXL3	P58215	p.Gly329Ser	rs186371653	missense variant	-	NC_000002.12:g.74536399C>T	1000Genomes,ExAC,gnomAD
LOXL3	P58215	p.Gly329Arg	rs186371653	missense variant	-	NC_000002.12:g.74536399C>G	1000Genomes,ExAC,gnomAD
LOXL3	P58215	p.Arg334His	rs138480120	missense variant	-	NC_000002.12:g.74536383C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg334Cys	rs201446673	missense variant	-	NC_000002.12:g.74536384G>A	ExAC,gnomAD
LOXL3	P58215	p.Trp336Ter	rs1356378361	stop gained	-	NC_000002.12:g.74536376C>T	TOPMed
LOXL3	P58215	p.Asp337Asn	rs1397835263	missense variant	-	NC_000002.12:g.74536375C>T	TOPMed
LOXL3	P58215	p.His339Tyr	rs770436498	missense variant	-	NC_000002.12:g.74536369G>A	ExAC,gnomAD
LOXL3	P58215	p.His339Gln	rs1293550393	missense variant	-	NC_000002.12:g.74536367A>C	TOPMed
LOXL3	P58215	p.Ala341Val	rs747492537	missense variant	-	NC_000002.12:g.74536362G>A	ExAC,gnomAD
LOXL3	P58215	p.Ser342Arg	rs148186148	missense variant	-	NC_000002.12:g.74536358G>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ser342Arg	rs1461186557	missense variant	-	NC_000002.12:g.74536360T>G	gnomAD
LOXL3	P58215	p.Val343Met	rs200579857	missense variant	-	NC_000002.12:g.74536357C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val344Ala	rs755267872	missense variant	-	NC_000002.12:g.74536353A>G	ExAC,gnomAD
LOXL3	P58215	p.Arg346Gln	rs762973031	missense variant	-	NC_000002.12:g.74536347C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg346Trp	rs367718984	missense variant	-	NC_000002.12:g.74536348G>A	ESP
LOXL3	P58215	p.Leu348Pro	rs1177992128	missense variant	-	NC_000002.12:g.74536341A>G	TOPMed,gnomAD
LOXL3	P58215	p.Gly351Arg	rs756167221	missense variant	-	NC_000002.12:g.74536333C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg354Gln	rs77262790	missense variant	-	NC_000002.12:g.74536323C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg354Ter	rs1450765743	stop gained	-	NC_000002.12:g.74536324G>A	TOPMed,gnomAD
LOXL3	P58215	p.Ala356Thr	rs201617146	missense variant	-	NC_000002.12:g.74536318C>T	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Leu357Pro	rs1350815387	missense variant	-	NC_000002.12:g.74536314A>G	gnomAD
LOXL3	P58215	p.Gly359Val	rs1452923144	missense variant	-	NC_000002.12:g.74536308C>A	TOPMed
LOXL3	P58215	p.Ala360Thr	rs374619238	missense variant	-	NC_000002.12:g.74536306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala360Asp	rs759143975	missense variant	-	NC_000002.12:g.74536305G>T	ExAC,gnomAD
LOXL3	P58215	p.Arg361Cys	rs865846469	missense variant	-	NC_000002.12:g.74536303G>A	TOPMed,gnomAD
LOXL3	P58215	p.Arg361His	rs765857380	missense variant	-	NC_000002.12:g.74536302C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Met362Ile	rs760202534	missense variant	-	NC_000002.12:g.74536298C>T	ExAC,gnomAD
LOXL3	P58215	p.Gly365Ser	rs143457594	missense variant	-	NC_000002.12:g.74536291C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly365Arg	rs143457594	missense variant	-	NC_000002.12:g.74536291C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Met366Val	rs1169427067	missense variant	-	NC_000002.12:g.74536148T>C	gnomAD
LOXL3	P58215	p.Ile369Val	rs770187289	missense variant	-	NC_000002.12:g.74536139T>C	ExAC,gnomAD
LOXL3	P58215	p.His370Tyr	rs1422495159	missense variant	-	NC_000002.12:g.74536136G>A	gnomAD
LOXL3	P58215	p.Val374Leu	rs148743316	missense variant	-	NC_000002.12:g.74536124C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val374Phe	rs148743316	missense variant	-	NC_000002.12:g.74536124C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg375His	rs77706750	missense variant	-	NC_000002.12:g.74536120C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg375Cys	rs114785633	missense variant	-	NC_000002.12:g.74536121G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg375Gly	rs114785633	missense variant	-	NC_000002.12:g.74536121G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg375His	RCV000247543	missense variant	-	NC_000002.12:g.74536120C>T	ClinVar
LOXL3	P58215	p.Gln379Arg	rs1473059709	missense variant	-	NC_000002.12:g.74536108T>C	TOPMed
LOXL3	P58215	p.Leu381Phe	rs768947832	missense variant	-	NC_000002.12:g.74536103G>A	ExAC,gnomAD
LOXL3	P58215	p.Trp384Arg	rs775640190	missense variant	-	NC_000002.12:g.74536094A>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Lys385Met	rs1356232828	missense variant	-	NC_000002.12:g.74536090T>A	gnomAD
LOXL3	P58215	p.His388Asn	rs553574295	missense variant	-	NC_000002.12:g.74536082G>T	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.His388Gln	rs969774550	missense variant	-	NC_000002.12:g.74536080G>T	TOPMed
LOXL3	P58215	p.Lys389Asn	COSM3583413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536077C>G	NCI-TCGA Cosmic
LOXL3	P58215	p.Lys389Arg	rs1351583971	missense variant	-	NC_000002.12:g.74536078T>C	TOPMed
LOXL3	P58215	p.Ile391Leu	rs746031886	missense variant	-	NC_000002.12:g.74536073T>G	ExAC,gnomAD
LOXL3	P58215	p.Ile391Met	rs1357367352	missense variant	-	NC_000002.12:g.74536071G>C	TOPMed,gnomAD
LOXL3	P58215	p.Asp395Val	rs1410350908	missense variant	-	NC_000002.12:g.74536060T>A	gnomAD
LOXL3	P58215	p.Cys396Arg	rs748133530	missense variant	-	NC_000002.12:g.74536058A>G	ExAC,gnomAD
LOXL3	P58215	p.Cys396Phe	rs1339553328	missense variant	-	NC_000002.12:g.74536057C>A	gnomAD
LOXL3	P58215	p.His398Gln	COSM477653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74536050A>C	NCI-TCGA Cosmic
LOXL3	P58215	p.His398Gln	rs778880659	missense variant	-	NC_000002.12:g.74536050A>T	ExAC,gnomAD
LOXL3	P58215	p.Gly403Glu	rs1290840534	missense variant	-	NC_000002.12:g.74536036C>T	TOPMed
LOXL3	P58215	p.Gly403Arg	rs753657092	missense variant	-	NC_000002.12:g.74536037C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val404Ile	rs755800115	missense variant	-	NC_000002.12:g.74536034C>T	ExAC,gnomAD
LOXL3	P58215	p.Arg405Gln	rs199834184	missense variant	-	NC_000002.12:g.74536030C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg405Trp	rs995890167	missense variant	-	NC_000002.12:g.74536031G>A	TOPMed,gnomAD
LOXL3	P58215	p.Asn407Lys	rs150084938	missense variant	-	NC_000002.12:g.74536023G>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Thr411Asn	rs1026411131	missense variant	-	NC_000002.12:g.74536012G>T	TOPMed,gnomAD
LOXL3	P58215	p.Gly412Arg	rs1335724227	missense variant	-	NC_000002.12:g.74536010C>G	gnomAD
LOXL3	P58215	p.Ala413Thr	rs1226699915	missense variant	-	NC_000002.12:g.74536007C>T	gnomAD
LOXL3	P58215	p.Glu414Asp	rs1390515264	missense variant	-	NC_000002.12:g.74536002C>A	TOPMed,gnomAD
LOXL3	P58215	p.Thr415Ser	rs1375568938	missense variant	-	NC_000002.12:g.74536000G>C	gnomAD
LOXL3	P58215	p.Arg416Ser	rs1447393207	missense variant	-	NC_000002.12:g.74535996C>G	gnomAD
LOXL3	P58215	p.Arg416Lys	rs752149505	missense variant	-	NC_000002.12:g.74535997C>T	ExAC
LOXL3	P58215	p.Ile417Thr	rs1433826439	missense variant	-	NC_000002.12:g.74535754A>G	gnomAD
LOXL3	P58215	p.Arg418Leu	rs145303536	missense variant	-	NC_000002.12:g.74535751C>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg418Gln	rs145303536	missense variant	-	NC_000002.12:g.74535751C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg418Ter	rs548268627	stop gained	-	NC_000002.12:g.74535752G>A	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly422Ser	rs1418492742	missense variant	-	NC_000002.12:g.74535740C>T	gnomAD
LOXL3	P58215	p.Arg423Cys	rs371670966	missense variant	-	NC_000002.12:g.74535737G>A	ExAC,gnomAD
LOXL3	P58215	p.Arg423Leu	rs763157434	missense variant	-	NC_000002.12:g.74535736C>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg423Ser	rs371670966	missense variant	-	NC_000002.12:g.74535737G>T	ExAC,gnomAD
LOXL3	P58215	p.Arg423His	rs763157434	missense variant	-	NC_000002.12:g.74535736C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ser424Asn	rs759864482	missense variant	-	NC_000002.12:g.74535733C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ser424Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74535732G>C	NCI-TCGA
LOXL3	P58215	p.His426Asn	rs369058623	missense variant	-	NC_000002.12:g.74535728G>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu427Gln	rs766576618	missense variant	-	NC_000002.12:g.74535725C>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu427Lys	rs766576618	missense variant	-	NC_000002.12:g.74535725C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg429Leu	rs772009677	missense variant	-	NC_000002.12:g.74535718C>A	ExAC,gnomAD
LOXL3	P58215	p.Arg429Ter	rs144818330	stop gained	-	NC_000002.12:g.74535719G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg429Gln	rs772009677	missense variant	-	NC_000002.12:g.74535718C>T	ExAC,gnomAD
LOXL3	P58215	p.Val430Ile	COSM443238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535716C>T	NCI-TCGA Cosmic
LOXL3	P58215	p.Val430Ala	rs749274248	missense variant	-	NC_000002.12:g.74535715A>G	ExAC,gnomAD
LOXL3	P58215	p.Glu431Lys	rs775264232	missense variant	-	NC_000002.12:g.74535713C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val432Met	rs1017236072	missense variant	-	NC_000002.12:g.74535710C>T	TOPMed,gnomAD
LOXL3	P58215	p.Ile434Val	rs1299252092	missense variant	-	NC_000002.12:g.74535704T>C	gnomAD
LOXL3	P58215	p.Gly435Ala	rs1324233550	missense variant	-	NC_000002.12:g.74535700C>G	TOPMed
LOXL3	P58215	p.Gly436Glu	rs756982019	missense variant	-	NC_000002.12:g.74535697C>T	ExAC,gnomAD
LOXL3	P58215	p.Gly436Arg	rs781047693	missense variant	-	NC_000002.12:g.74535698C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly436Ala	rs756982019	missense variant	-	NC_000002.12:g.74535697C>G	ExAC,gnomAD
LOXL3	P58215	p.Pro437Arg	rs1466120938	missense variant	-	NC_000002.12:g.74535694G>C	gnomAD
LOXL3	P58215	p.Pro439Ser	rs777373456	missense variant	-	NC_000002.12:g.74535689G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Pro439His	rs1276796621	missense variant	-	NC_000002.12:g.74535688G>T	TOPMed
LOXL3	P58215	p.Leu440Phe	rs907408938	missense variant	-	NC_000002.12:g.74535686G>A	TOPMed,gnomAD
LOXL3	P58215	p.Arg441His	rs753287287	missense variant	-	NC_000002.12:g.74535682C>T	ExAC,gnomAD
LOXL3	P58215	p.Arg441Cys	rs750072073	missense variant	-	NC_000002.12:g.74535683G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly443Val	COSM443237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535676C>A	NCI-TCGA Cosmic
LOXL3	P58215	p.Asp448Gly	rs1259557207	missense variant	-	NC_000002.12:g.74535661T>C	gnomAD
LOXL3	P58215	p.Asp449Asn	COSM1307010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535659C>T	NCI-TCGA Cosmic
LOXL3	P58215	p.Trp450Arg	rs1483621185	missense variant	-	NC_000002.12:g.74535656A>T	gnomAD
LOXL3	P58215	p.Thr452Ile	rs767139916	missense variant	-	NC_000002.12:g.74535649G>A	TOPMed
LOXL3	P58215	p.Thr452ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.74535649_74535650GT>-	NCI-TCGA
LOXL3	P58215	p.Thr452Asn	rs767139916	missense variant	-	NC_000002.12:g.74535649G>T	TOPMed
LOXL3	P58215	p.Val457Leu	rs376233864	missense variant	-	NC_000002.12:g.74535635C>G	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala458Thr	COSM1326957	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535632C>T	NCI-TCGA Cosmic
LOXL3	P58215	p.Leu462Gln	rs754216835	missense variant	-	NC_000002.12:g.74535619A>T	ExAC,gnomAD
LOXL3	P58215	p.Gly465Asp	rs1309534254	missense variant	-	NC_000002.12:g.74535610C>T	gnomAD
LOXL3	P58215	p.Gly465Ala	rs1309534254	missense variant	-	NC_000002.12:g.74535610C>G	gnomAD
LOXL3	P58215	p.Ala467Asp	COSM1409609	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535604G>T	NCI-TCGA Cosmic
LOXL3	P58215	p.Ala467Thr	rs1218437521	missense variant	-	NC_000002.12:g.74535605C>T	gnomAD
LOXL3	P58215	p.His469Arg	rs750567337	missense variant	-	NC_000002.12:g.74535598T>C	ExAC,gnomAD
LOXL3	P58215	p.His469Tyr	rs1230767257	missense variant	-	NC_000002.12:g.74535599G>A	TOPMed
LOXL3	P58215	p.Gly470Ser	rs761764571	missense variant	-	NC_000002.12:g.74535596C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly470Cys	rs761764571	missense variant	-	NC_000002.12:g.74535596C>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly470Val	rs1300621939	missense variant	-	NC_000002.12:g.74535595C>A	gnomAD
LOXL3	P58215	p.Thr474Ile	rs759576983	missense variant	-	NC_000002.12:g.74535450G>A	ExAC,gnomAD
LOXL3	P58215	p.Ile482Val	rs776660493	missense variant	-	NC_000002.12:g.74535427T>C	ExAC,gnomAD
LOXL3	P58215	p.Glu484Lys	rs1178246345	missense variant	-	NC_000002.12:g.74535421C>T	gnomAD
LOXL3	P58215	p.Ser488Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74535408C>A	NCI-TCGA
LOXL3	P58215	p.Arg491His	rs772977368	missense variant	-	NC_000002.12:g.74535399C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg491Cys	rs555821491	missense variant	-	NC_000002.12:g.74535400G>A	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly494Arg	rs1356205386	missense variant	-	NC_000002.12:g.74535391C>T	gnomAD
LOXL3	P58215	p.Glu496Lys	rs1264218210	missense variant	-	NC_000002.12:g.74535385C>T	gnomAD
LOXL3	P58215	p.Asp500Gly	rs771639460	missense variant	-	NC_000002.12:g.74535372T>C	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gln501His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74535368C>A	NCI-TCGA
LOXL3	P58215	p.His504Tyr	rs1386074090	missense variant	-	NC_000002.12:g.74535361G>A	gnomAD
LOXL3	P58215	p.His505Pro	rs747772829	missense variant	-	NC_000002.12:g.74535357T>G	ExAC,gnomAD
LOXL3	P58215	p.His505Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74535357T>C	NCI-TCGA
LOXL3	P58215	p.Gly506Ser	rs778429679	missense variant	-	NC_000002.12:g.74535355C>T	ExAC,gnomAD
LOXL3	P58215	p.Thr507Asn	rs1386026810	missense variant	-	NC_000002.12:g.74535351G>T	gnomAD
LOXL3	P58215	p.His508Arg	rs145420599	missense variant	-	NC_000002.12:g.74535348T>C	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ile509Thr	rs756565572	missense variant	-	NC_000002.12:g.74535345A>G	ExAC,gnomAD
LOXL3	P58215	p.Cys511Phe	rs1380978373	missense variant	-	NC_000002.12:g.74535339C>A	gnomAD
LOXL3	P58215	p.Lys512Glu	rs750738016	missense variant	-	NC_000002.12:g.74535337T>C	ExAC,gnomAD
LOXL3	P58215	p.Arg513Lys	rs1438020493	missense variant	-	NC_000002.12:g.74535333C>T	gnomAD
LOXL3	P58215	p.Thr514Ile	rs781559258	missense variant	-	NC_000002.12:g.74535330G>A	ExAC,gnomAD
LOXL3	P58215	p.Gly515Glu	rs1199955943	missense variant	-	NC_000002.12:g.74535327C>T	gnomAD
LOXL3	P58215	p.Thr516Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74535324G>T	NCI-TCGA
LOXL3	P58215	p.Thr516Ile	rs757423150	missense variant	-	NC_000002.12:g.74535324G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg517His	rs758529496	missense variant	-	NC_000002.12:g.74535321C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg517Cys	rs147506172	missense variant	-	NC_000002.12:g.74535322G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg517Ser	rs147506172	missense variant	-	NC_000002.12:g.74535322G>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg517Pro	rs758529496	missense variant	-	NC_000002.12:g.74535321C>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Thr519Ile	rs1057381232	missense variant	-	NC_000002.12:g.74535315G>A	gnomAD
LOXL3	P58215	p.Ala520Val	rs753894081	missense variant	-	NC_000002.12:g.74535312G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val522Ile	rs143253564	missense variant	-	NC_000002.12:g.74535307C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ile523Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74535303A>T	NCI-TCGA
LOXL3	P58215	p.Glu526Val	rs760605034	missense variant	-	NC_000002.12:g.74535294T>A	ExAC,gnomAD
LOXL3	P58215	p.Glu526Gln	COSM4826995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74535295C>G	NCI-TCGA Cosmic
LOXL3	P58215	p.Glu526Asp	rs767305617	missense variant	-	NC_000002.12:g.74535293C>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala528Thr	rs763719633	missense variant	-	NC_000002.12:g.74534772C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Asp530Tyr	rs1045827309	missense variant	-	NC_000002.12:g.74534766C>A	TOPMed
LOXL3	P58215	p.Leu533Pro	rs922973106	missense variant	-	NC_000002.12:g.74534756A>G	TOPMed,gnomAD
LOXL3	P58215	p.His534Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534753T>C	NCI-TCGA
LOXL3	P58215	p.Ser535Thr	rs1466479462	missense variant	-	NC_000002.12:g.74534751A>T	gnomAD
LOXL3	P58215	p.Ala536Val	rs1192116622	missense variant	-	NC_000002.12:g.74534747G>A	gnomAD
LOXL3	P58215	p.Ala536Pro	rs774864986	missense variant	-	NC_000002.12:g.74534748C>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ala542Thr	rs368911743	missense variant	-	NC_000002.12:g.74534730C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ile544Leu	rs1440293220	missense variant	-	NC_000002.12:g.74534724T>G	gnomAD
LOXL3	P58215	p.Glu545Lys	rs747365929	missense variant	-	NC_000002.12:g.74534721C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Asp546Val	rs1317067301	missense variant	-	NC_000002.12:g.74534717T>A	gnomAD
LOXL3	P58215	p.Arg547Trp	rs1255981248	missense variant	-	NC_000002.12:g.74534715G>A	TOPMed,gnomAD
LOXL3	P58215	p.Arg547Gln	rs200922742	missense variant	-	NC_000002.12:g.74534714C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Pro548His	rs1379854381	missense variant	-	NC_000002.12:g.74534711G>T	TOPMed,gnomAD
LOXL3	P58215	p.Leu549Pro	rs144364530	missense variant	-	NC_000002.12:g.74534708A>G	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Leu549Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534709G>T	NCI-TCGA
LOXL3	P58215	p.His550Leu	rs748343116	missense variant	-	NC_000002.12:g.74534705T>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.His550Asp	rs1380779977	missense variant	-	NC_000002.12:g.74534706G>C	gnomAD
LOXL3	P58215	p.His550Arg	rs748343116	missense variant	-	NC_000002.12:g.74534705T>C	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Met551Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534703T>A	NCI-TCGA
LOXL3	P58215	p.Leu552Ser	RCV000513664	missense variant	-	NC_000002.12:g.74534699A>G	ClinVar
LOXL3	P58215	p.Leu552Ser	rs1553396476	missense variant	-	NC_000002.12:g.74534699A>G	-
LOXL3	P58215	p.Tyr553Ser	rs778884153	missense variant	-	NC_000002.12:g.74534696T>G	ExAC,gnomAD
LOXL3	P58215	p.Tyr553Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.74534695G>C	NCI-TCGA
LOXL3	P58215	p.Tyr553His	rs199744071	missense variant	-	NC_000002.12:g.74534697A>G	1000Genomes,gnomAD
LOXL3	P58215	p.Ala556Val	rs145278325	missense variant	-	NC_000002.12:g.74534687G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu557Lys	rs781190080	missense variant	-	NC_000002.12:g.74534685C>T	ExAC,gnomAD
LOXL3	P58215	p.Glu558Lys	rs1471526390	missense variant	-	NC_000002.12:g.74534682C>T	gnomAD
LOXL3	P58215	p.Asn559Asp	rs1239536770	missense variant	-	NC_000002.12:g.74534679T>C	gnomAD
LOXL3	P58215	p.Cys560Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.74534674G>T	NCI-TCGA
LOXL3	P58215	p.Leu561Met	rs1437473218	missense variant	-	NC_000002.12:g.74534673G>T	TOPMed
LOXL3	P58215	p.Leu561Pro	rs1285493910	missense variant	-	NC_000002.12:g.74534672A>G	TOPMed
LOXL3	P58215	p.Ser563Asn	rs1370249917	missense variant	-	NC_000002.12:g.74534666C>T	gnomAD
LOXL3	P58215	p.Arg566His	rs370672032	missense variant	-	NC_000002.12:g.74534657C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg566Cys	rs1223533478	missense variant	-	NC_000002.12:g.74534658G>A	TOPMed,gnomAD
LOXL3	P58215	p.Arg566Ser	rs1223533478	missense variant	-	NC_000002.12:g.74534658G>T	TOPMed,gnomAD
LOXL3	P58215	p.Asn569Lys	rs763808433	missense variant	-	NC_000002.12:g.74534647G>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Tyr572Cys	rs1227742150	missense variant	-	NC_000002.12:g.74534639T>C	gnomAD
LOXL3	P58215	p.His574Tyr	rs1357361152	missense variant	-	NC_000002.12:g.74534634G>A	gnomAD
LOXL3	P58215	p.Arg575Trp	rs1311623928	missense variant	-	NC_000002.12:g.74534631G>A	TOPMed,gnomAD
LOXL3	P58215	p.Arg575Gln	rs762623422	missense variant	-	NC_000002.12:g.74534630C>T	ExAC,gnomAD
LOXL3	P58215	p.Arg576His	rs368390904	missense variant	-	NC_000002.12:g.74534627C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg576Cys	rs779607152	missense variant	-	NC_000002.12:g.74534628G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg579Gln	rs138622685	missense variant	-	NC_000002.12:g.74534618C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Phe580Ile	rs1223314250	missense variant	-	NC_000002.12:g.74534616A>T	TOPMed
LOXL3	P58215	p.Ser581Pro	COSM4403890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74534613A>G	NCI-TCGA Cosmic
LOXL3	P58215	p.His585Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534601G>T	NCI-TCGA
LOXL3	P58215	p.Arg589Ter	rs144775651	stop gained	-	NC_000002.12:g.74534589G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg589Gln	rs916033845	missense variant	-	NC_000002.12:g.74534588C>T	gnomAD
LOXL3	P58215	p.Ala590Thr	rs771577454	missense variant	-	NC_000002.12:g.74534586C>T	ExAC,gnomAD
LOXL3	P58215	p.Phe592Leu	rs370971636	missense variant	-	NC_000002.12:g.74534580A>G	ESP,ExAC,gnomAD
LOXL3	P58215	p.Arg593Ser	rs773741483	missense variant	-	NC_000002.12:g.74534575C>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Pro594His	rs991535122	missense variant	-	NC_000002.12:g.74534573G>T	gnomAD
LOXL3	P58215	p.Pro594Leu	rs991535122	missense variant	-	NC_000002.12:g.74534573G>A	gnomAD
LOXL3	P58215	p.Lys595Asn	rs1245974379	missense variant	-	NC_000002.12:g.74534569C>A	gnomAD
LOXL3	P58215	p.Arg598His	rs755626043	missense variant	-	NC_000002.12:g.74534561C>T	TOPMed,gnomAD
LOXL3	P58215	p.Arg598Cys	rs748365123	missense variant	-	NC_000002.12:g.74534562G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val602Met	rs779161522	missense variant	-	NC_000002.12:g.74534550C>T	ExAC,gnomAD
LOXL3	P58215	p.Trp603Cys	rs779944234	missense variant	-	NC_000002.12:g.74534545C>G	ExAC,gnomAD
LOXL3	P58215	p.Trp603Ter	rs779944234	stop gained	-	NC_000002.12:g.74534545C>T	ExAC,gnomAD
LOXL3	P58215	p.Glu605Gln	COSM3799206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74534541C>G	NCI-TCGA Cosmic
LOXL3	P58215	p.Glu605Lys	rs751461263	missense variant	-	NC_000002.12:g.74534541C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Cys606Tyr	COSM1023058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74534537C>T	NCI-TCGA Cosmic
LOXL3	P58215	p.His607Asp	rs377574350	missense variant	-	NC_000002.12:g.74534535G>C	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.His607Gln	rs372589604	missense variant	-	NC_000002.12:g.74534533A>C	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.His609GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.74534421_74534428TGTGGTAA>-	NCI-TCGA
LOXL3	P58215	p.Tyr610His	rs777658017	missense variant	-	NC_000002.12:g.74534427A>G	ExAC,gnomAD
LOXL3	P58215	p.Tyr610Ter	rs1255641757	stop gained	-	NC_000002.12:g.74534425G>C	gnomAD
LOXL3	P58215	p.Asp614Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534414T>C	NCI-TCGA
LOXL3	P58215	p.Asp614Asn	rs758256615	missense variant	-	NC_000002.12:g.74534415C>T	ExAC
LOXL3	P58215	p.Ile615Phe	RCV000252508	missense variant	-	NC_000002.12:g.74534412T>A	ClinVar
LOXL3	P58215	p.Ile615Thr	rs904517258	missense variant	-	NC_000002.12:g.74534411A>G	TOPMed,gnomAD
LOXL3	P58215	p.Ile615Phe	rs17010021	missense variant	-	NC_000002.12:g.74534412T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.His618MetPheSerTerUnkUnk	COSM1023056	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.74534400_74534403AGTG>-	NCI-TCGA Cosmic
LOXL3	P58215	p.His618Tyr	rs1257522607	missense variant	-	NC_000002.12:g.74534403G>A	gnomAD
LOXL3	P58215	p.Asp620Gly	rs202011389	missense variant	-	NC_000002.12:g.74534396T>C	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ile621Leu	rs1314189368	missense variant	-	NC_000002.12:g.74534394T>G	gnomAD
LOXL3	P58215	p.Leu622Pro	rs753380842	missense variant	-	NC_000002.12:g.74534390A>G	ExAC,gnomAD
LOXL3	P58215	p.Gly626Ser	rs768120899	missense variant	-	NC_000002.12:g.74534379C>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Lys628Ter	rs929424088	stop gained	-	NC_000002.12:g.74534373T>A	TOPMed
LOXL3	P58215	p.Gly632Ser	rs1411923252	missense variant	-	NC_000002.12:g.74534361C>T	gnomAD
LOXL3	P58215	p.His633Gln	rs1169749481	missense variant	-	NC_000002.12:g.74534356G>C	TOPMed,gnomAD
LOXL3	P58215	p.Lys634Ile	rs1460365711	missense variant	-	NC_000002.12:g.74534354T>A	gnomAD
LOXL3	P58215	p.Ala635Pro	rs774786906	missense variant	-	NC_000002.12:g.74534352C>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Cys638Ser	rs764328902	missense variant	-	NC_000002.12:g.74534343A>T	ExAC,gnomAD
LOXL3	P58215	p.Cys638Ser	rs763262128	missense variant	-	NC_000002.12:g.74534342C>G	ExAC,gnomAD
LOXL3	P58215	p.Glu640Ter	rs745944878	stop gained	-	NC_000002.12:g.74534337C>A	ExAC,gnomAD
LOXL3	P58215	p.Glu640Lys	rs745944878	missense variant	-	NC_000002.12:g.74534337C>T	ExAC,gnomAD
LOXL3	P58215	p.Thr642Ile	rs773192522	missense variant	-	NC_000002.12:g.74534330G>A	ExAC
LOXL3	P58215	p.Glu643Val	rs747995192	missense variant	-	NC_000002.12:g.74534327T>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu643Ala	rs747995192	missense variant	-	NC_000002.12:g.74534327T>G	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Cys644Ter	rs1246556909	stop gained	-	NC_000002.12:g.74534323A>T	TOPMed
LOXL3	P58215	p.Glu646Lys	rs916087535	missense variant	-	NC_000002.12:g.74534319C>T	gnomAD
LOXL3	P58215	p.Glu646Gln	rs916087535	missense variant	-	NC_000002.12:g.74534319C>G	gnomAD
LOXL3	P58215	p.Asp647Gly	rs1288911326	missense variant	-	NC_000002.12:g.74534236T>C	gnomAD
LOXL3	P58215	p.Lys650Thr	rs551992223	missense variant	-	NC_000002.12:g.74534227T>G	1000Genomes,ExAC,gnomAD
LOXL3	P58215	p.Arg651Trp	rs1353900393	missense variant	-	NC_000002.12:g.74534225G>A	gnomAD
LOXL3	P58215	p.Arg651Gln	rs1024141954	missense variant	-	NC_000002.12:g.74534224C>T	TOPMed,gnomAD
LOXL3	P58215	p.Glu653Lys	rs768559100	missense variant	-	NC_000002.12:g.74534219C>T	ExAC,gnomAD
LOXL3	P58215	p.Cys654Tyr	rs1332589127	missense variant	-	NC_000002.12:g.74534215C>T	gnomAD
LOXL3	P58215	p.Ala655Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534212G>T	NCI-TCGA
LOXL3	P58215	p.Ala655Thr	rs147915651	missense variant	-	NC_000002.12:g.74534213C>T	ESP,TOPMed
LOXL3	P58215	p.Glu659Gly	rs1016152170	missense variant	-	NC_000002.12:g.74534200T>C	gnomAD
LOXL3	P58215	p.Glu659Lys	rs749074923	missense variant	-	NC_000002.12:g.74534201C>T	ExAC,gnomAD
LOXL3	P58215	p.Thr663Pro	rs769578496	missense variant	-	NC_000002.12:g.74534189T>G	ExAC,gnomAD
LOXL3	P58215	p.Leu669Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534171G>T	NCI-TCGA
LOXL3	P58215	p.Arg671Gln	rs756702540	missense variant	-	NC_000002.12:g.74534164C>T	ExAC,gnomAD
LOXL3	P58215	p.Arg671Gly	rs368539606	missense variant	-	NC_000002.12:g.74534165G>C	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Arg671Trp	rs368539606	missense variant	-	NC_000002.12:g.74534165G>A	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Asp673Gly	rs891628709	missense variant	-	NC_000002.12:g.74534158T>C	TOPMed
LOXL3	P58215	p.Ile674Val	rs1200065113	missense variant	-	NC_000002.12:g.74534156T>C	TOPMed,gnomAD
LOXL3	P58215	p.Ile674Asn	rs752150504	missense variant	-	NC_000002.12:g.74534155A>T	ExAC,gnomAD
LOXL3	P58215	p.Asp675Glu	rs778140028	missense variant	-	NC_000002.12:g.74534151G>C	ExAC,gnomAD
LOXL3	P58215	p.Cys676Tyr	rs786204838	missense variant	-	NC_000002.12:g.74534149C>T	UniProt,dbSNP
LOXL3	P58215	p.Cys676Tyr	VAR_077909	missense variant	-	NC_000002.12:g.74534149C>T	UniProt
LOXL3	P58215	p.Cys676Tyr	rs786204838	missense variant	-	NC_000002.12:g.74534149C>T	TOPMed
LOXL3	P58215	p.Cys676Tyr	RCV000169743	missense variant	-	NC_000002.12:g.74534149C>T	ClinVar
LOXL3	P58215	p.Gln677Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534147G>T	NCI-TCGA
LOXL3	P58215	p.Trp678Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.74534142C>T	NCI-TCGA
LOXL3	P58215	p.Ile679Thr	rs758822068	missense variant	-	NC_000002.12:g.74534140A>G	ExAC,gnomAD
LOXL3	P58215	p.Thr682Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534131G>T	NCI-TCGA
LOXL3	P58215	p.Thr682Met	rs765545235	missense variant	-	NC_000002.12:g.74534131G>A	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Val684Met	rs1156821859	missense variant	-	NC_000002.12:g.74534126C>T	TOPMed
LOXL3	P58215	p.Lys685Arg	rs1222689600	missense variant	-	NC_000002.12:g.74534122T>C	gnomAD
LOXL3	P58215	p.Gly687Ala	rs766518527	missense variant	-	NC_000002.12:g.74534116C>G	ExAC,gnomAD
LOXL3	P58215	p.Asn688Asp	rs774401306	missense variant	-	NC_000002.12:g.74534114T>C	ExAC,gnomAD
LOXL3	P58215	p.Ile690Val	rs762913695	missense variant	-	NC_000002.12:g.74534108T>C	ExAC,gnomAD
LOXL3	P58215	p.Ile690Asn	rs374003067	missense variant	-	NC_000002.12:g.74534107A>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Leu691Phe	COSM3695615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74534105G>A	NCI-TCGA Cosmic
LOXL3	P58215	p.Leu691Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74534105G>T	NCI-TCGA
LOXL3	P58215	p.Val693Ile	rs374700981	missense variant	-	NC_000002.12:g.74533993C>T	ESP,TOPMed,gnomAD
LOXL3	P58215	p.Val694Asp	COSM443236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74533989A>T	NCI-TCGA Cosmic
LOXL3	P58215	p.Asn696Ser	rs1239731671	missense variant	-	NC_000002.12:g.74533983T>C	gnomAD
LOXL3	P58215	p.Asn698Asp	rs759403031	missense variant	-	NC_000002.12:g.74533978T>C	ExAC,gnomAD
LOXL3	P58215	p.Glu700Ala	rs1437104786	missense variant	-	NC_000002.12:g.74533971T>G	gnomAD
LOXL3	P58215	p.Val701Glu	rs535514021	missense variant	-	NC_000002.12:g.74533968A>T	ExAC,gnomAD
LOXL3	P58215	p.Val701Gly	rs535514021	missense variant	-	NC_000002.12:g.74533968A>C	ExAC,gnomAD
LOXL3	P58215	p.Thr707Ile	rs1203038187	missense variant	-	NC_000002.12:g.74533950G>A	TOPMed
LOXL3	P58215	p.Met711Ile	rs1245476050	missense variant	-	NC_000002.12:g.74533937C>A	gnomAD
LOXL3	P58215	p.Lys712Gln	rs1251151886	missense variant	-	NC_000002.12:g.74533936T>G	TOPMed
LOXL3	P58215	p.Lys716Gln	rs1481037984	missense variant	-	NC_000002.12:g.74533924T>G	TOPMed
LOXL3	P58215	p.Tyr717His	rs1333726895	missense variant	-	NC_000002.12:g.74533921A>G	gnomAD
LOXL3	P58215	p.Asp718Glu	rs772619628	missense variant	-	NC_000002.12:g.74533916A>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Gly719Glu	rs1354389622	missense variant	-	NC_000002.12:g.74533914C>T	gnomAD
LOXL3	P58215	p.His720Arg	rs371469750	missense variant	-	NC_000002.12:g.74533911T>C	ESP,ExAC,gnomAD
LOXL3	P58215	p.Ile722Leu	rs779386943	missense variant	-	NC_000002.12:g.74533906T>G	ExAC,gnomAD
LOXL3	P58215	p.Ile722Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74533905A>G	NCI-TCGA
LOXL3	P58215	p.Val724Glu	rs1442343938	missense variant	-	NC_000002.12:g.74533899A>T	gnomAD
LOXL3	P58215	p.Val724Met	rs755391218	missense variant	-	NC_000002.12:g.74533900C>T	ExAC,gnomAD
LOXL3	P58215	p.His725Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74533895G>T	NCI-TCGA
LOXL3	P58215	p.Asn726Ser	rs1031488108	missense variant	-	NC_000002.12:g.74533893T>C	TOPMed,gnomAD
LOXL3	P58215	p.Ile729Thr	rs569744999	missense variant	-	NC_000002.12:g.74533884A>G	1000Genomes,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ile729Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74533885T>G	NCI-TCGA
LOXL3	P58215	p.Ile729Val	rs1469431760	missense variant	-	NC_000002.12:g.74533885T>C	gnomAD
LOXL3	P58215	p.Asp731Asn	rs1357874197	missense variant	-	NC_000002.12:g.74533677C>T	TOPMed
LOXL3	P58215	p.Ser734Cys	rs1465968004	missense variant	-	NC_000002.12:g.74533668T>A	TOPMed
LOXL3	P58215	p.Glu735Asp	rs200529711	missense variant	-	NC_000002.12:g.74533663T>G	1000Genomes,ExAC,gnomAD
LOXL3	P58215	p.Glu735Lys	rs1341811424	missense variant	-	NC_000002.12:g.74533665C>T	TOPMed,gnomAD
LOXL3	P58215	p.Glu736Lys	rs1452548000	missense variant	-	NC_000002.12:g.74533662C>T	gnomAD
LOXL3	P58215	p.Asn738Asp	rs1177892506	missense variant	-	NC_000002.12:g.74533656T>C	gnomAD
LOXL3	P58215	p.Phe741Ser	rs374373616	missense variant	-	NC_000002.12:g.74533646A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Phe741Leu	rs907373680	missense variant	-	NC_000002.12:g.74533647A>G	TOPMed
LOXL3	P58215	p.Phe741Tyr	rs374373616	missense variant	-	NC_000002.12:g.74533646A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Phe741Val	rs907373680	missense variant	-	NC_000002.12:g.74533647A>C	TOPMed
LOXL3	P58215	p.Phe741Leu	rs766127175	missense variant	-	NC_000002.12:g.74533645A>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Glu742Lys	rs760513035	missense variant	-	NC_000002.12:g.74533644C>T	ExAC,gnomAD
LOXL3	P58215	p.Arg743Cys	rs1187213459	missense variant	-	NC_000002.12:g.74533641G>A	TOPMed,gnomAD
LOXL3	P58215	p.Arg743His	rs372712761	missense variant	-	NC_000002.12:g.74533640C>T	ESP,ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Tyr744Cys	rs1311742846	missense variant	-	NC_000002.12:g.74533637T>C	TOPMed
LOXL3	P58215	p.Gln747Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.74533629G>A	NCI-TCGA
LOXL3	P58215	p.Asn750Ser	rs773877944	missense variant	-	NC_000002.12:g.74533619T>C	ExAC,gnomAD
LOXL3	P58215	p.Gln751Lys	rs768102119	missense variant	-	NC_000002.12:g.74533617G>T	ExAC,TOPMed,gnomAD
LOXL3	P58215	p.Ile753Met	rs763423249	missense variant	-	NC_000002.12:g.74533609G>C	ExAC,gnomAD
CDC42	P60953	p.Ile4Met	rs1385478360	missense variant	-	NC_000001.11:g.22078490T>G	gnomAD
CDC42	P60953	p.Asp11Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22078509G>A	NCI-TCGA
CDC42	P60953	p.Ala13Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22078516C>T	NCI-TCGA
CDC42	P60953	p.Ala13Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22078515G>C	NCI-TCGA
CDC42	P60953	p.Lys16Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22078525A>G	NCI-TCGA
CDC42	P60953	p.Thr17Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22078528C>T	NCI-TCGA
CDC42	P60953	p.Ile21Thr	RCV000601771	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22078540T>C	ClinVar
CDC42	P60953	p.Tyr23Cys	rs797044916	missense variant	-	NC_000001.11:g.22078546A>G	-
CDC42	P60953	p.Tyr23Cys	RCV000190749	missense variant	Inborn genetic diseases	NC_000001.11:g.22078546A>G	ClinVar
CDC42	P60953	p.Lys27Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22078558A>C	NCI-TCGA
CDC42	P60953	p.Val36Phe	rs1216194784	missense variant	-	NC_000001.11:g.22081722G>T	gnomAD
CDC42	P60953	p.Ala41Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22081737G>A	NCI-TCGA
CDC42	P60953	p.Val42Ile	rs1057518022	missense variant	-	NC_000001.11:g.22081740G>A	-
CDC42	P60953	p.Val42Ile	RCV000414468	missense variant	-	NC_000001.11:g.22081740G>A	ClinVar
CDC42	P60953	p.Glu49Lys	rs1156458920	missense variant	-	NC_000001.11:g.22081761G>A	gnomAD
CDC42	P60953	p.Pro50HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.22081764C>-	NCI-TCGA
CDC42	P60953	p.Tyr51His	rs1401679863	missense variant	-	NC_000001.11:g.22081767T>C	gnomAD
CDC42	P60953	p.Gly54Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.22081776G>T	NCI-TCGA
CDC42	P60953	p.Gly54Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22081777G>A	NCI-TCGA
CDC42	P60953	p.Asp57Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22081785G>T	NCI-TCGA
CDC42	P60953	p.Asp57Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22081786A>G	NCI-TCGA
CDC42	P60953	p.Glu62Asp	COSM904473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086446G>T	NCI-TCGA Cosmic
CDC42	P60953	p.Asp63Val	COSM3369555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086448A>T	NCI-TCGA Cosmic
CDC42	P60953	p.Tyr64Cys	RCV000489915	missense variant	-	NC_000001.11:g.22086451A>G	ClinVar
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt,dbSNP
CDC42	P60953	p.Tyr64Cys	VAR_076337	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	-	NC_000001.11:g.22086451A>G	-
CDC42	P60953	p.Asp65Val	COSM3484163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086454A>T	NCI-TCGA Cosmic
CDC42	P60953	p.Arg66Lys	COSM3484165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086457G>A	NCI-TCGA Cosmic
CDC42	P60953	p.Arg66Gly	RCV000601199	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg66Gly	rs797044870	missense variant	-	NC_000001.11:g.22086456A>G	-
CDC42	P60953	p.Arg66Gly	RCV000190678	missense variant	Inborn genetic diseases	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg68Gln	RCV000519757	missense variant	-	NC_000001.11:g.22086463G>A	ClinVar
CDC42	P60953	p.Arg68Gln	rs1553196096	missense variant	-	NC_000001.11:g.22086463G>A	-
CDC42	P60953	p.Pro69Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22086466C>T	NCI-TCGA
CDC42	P60953	p.Pro73Leu	COSM4477843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086478C>T	NCI-TCGA Cosmic
CDC42	P60953	p.Val77Leu	rs372264403	missense variant	-	NC_000001.11:g.22086489G>C	ESP
CDC42	P60953	p.Val80Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22086498G>T	NCI-TCGA
CDC42	P60953	p.Cys81Phe	RCV000497401	missense variant	-	NC_000001.11:g.22086502G>T	ClinVar
CDC42	P60953	p.Cys81Phe	rs1553196100	missense variant	-	NC_000001.11:g.22086502G>T	-
CDC42	P60953	p.Ser83Leu	COSM4842328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086508C>T	NCI-TCGA Cosmic
CDC42	P60953	p.Ser83GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.22086503T>-	NCI-TCGA
CDC42	P60953	p.Ser83Pro	RCV000611080	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Ser83Pro	rs1553196101	missense variant	-	NC_000001.11:g.22086507T>C	-
CDC42	P60953	p.Ser83Pro	RCV000577866	missense variant	-	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Glu95Gln	COSM679405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086543G>C	NCI-TCGA Cosmic
CDC42	P60953	p.Val98Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22086672G>A	NCI-TCGA
CDC42	P60953	p.His104Tyr	COSM3484167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086690C>T	NCI-TCGA Cosmic
CDC42	P60953	p.Phe110Tyr	rs1174303286	missense variant	-	NC_000001.11:g.22086709T>A	gnomAD
CDC42	P60953	p.Gln116Glu	RCV000520976	missense variant	-	NC_000001.11:g.22086726C>G	ClinVar
CDC42	P60953	p.Gln116Glu	rs1553196119	missense variant	-	NC_000001.11:g.22086726C>G	-
CDC42	P60953	p.Ile117Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22086730T>G	NCI-TCGA
CDC42	P60953	p.Asp118ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.22086732_22086733insTTAAAAGC	NCI-TCGA
CDC42	P60953	p.Asp122Asn	COSM6061713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086744G>A	NCI-TCGA Cosmic
CDC42	P60953	p.Asp122Glu	rs766033563	missense variant	-	NC_000001.11:g.22086746C>A	ExAC,gnomAD
CDC42	P60953	p.Ser124Phe	rs1326906815	missense variant	-	NC_000001.11:g.22086751C>T	gnomAD
CDC42	P60953	p.Thr125Ala	rs1401746062	missense variant	-	NC_000001.11:g.22086753A>G	gnomAD
CDC42	P60953	p.Ile126Thr	rs773774873	missense variant	-	NC_000001.11:g.22086757T>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Glu127Asp	COSM904475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086761G>T	NCI-TCGA Cosmic
CDC42	P60953	p.Ala130Val	rs1235149233	missense variant	-	NC_000001.11:g.22086769C>T	TOPMed
CDC42	P60953	p.Ala130Ser	rs1299595884	missense variant	-	NC_000001.11:g.22086768G>T	gnomAD
CDC42	P60953	p.Lys131Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22086773G>T	NCI-TCGA
CDC42	P60953	p.Pro136Thr	rs759084319	missense variant	-	NC_000001.11:g.22086786C>A	ExAC,gnomAD
CDC42	P60953	p.Ile137Val	rs142108830	missense variant	-	NC_000001.11:g.22086789A>G	ESP,ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ile137Met	rs752627715	missense variant	-	NC_000001.11:g.22086791C>G	ExAC,gnomAD
CDC42	P60953	p.Pro139Ala	rs1405901539	missense variant	-	NC_000001.11:g.22086795C>G	TOPMed
CDC42	P60953	p.Glu143Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22086807G>A	NCI-TCGA
CDC42	P60953	p.Arg147His	rs1449280793	missense variant	-	NC_000001.11:g.22086820G>A	gnomAD
CDC42	P60953	p.Lys150Asn	COSM904476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22086830G>T	NCI-TCGA Cosmic
CDC42	P60953	p.Lys153Arg	rs1199858455	missense variant	-	NC_000001.11:g.22086838A>G	gnomAD
CDC42	P60953	p.Tyr154Cys	rs779188342	missense variant	-	NC_000001.11:g.22086841A>G	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Glu156Asp	rs758444709	missense variant	-	NC_000001.11:g.22086848G>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ala159Val	RCV000577829	missense variant	-	NC_000001.11:g.22086856C>T	ClinVar
CDC42	P60953	p.Ala159Val	rs1553196134	missense variant	-	NC_000001.11:g.22086856C>T	-
CDC42	P60953	p.Leu160Val	rs1362240044	missense variant	-	NC_000001.11:g.22086858C>G	gnomAD
CDC42	P60953	p.Lys166Glu	COSM4028616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22091437A>G	NCI-TCGA Cosmic
CDC42	P60953	p.Lys166Asn	COSM1339175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.22091439G>T	NCI-TCGA Cosmic
CDC42	P60953	p.Glu171Lys	RCV000577848	missense variant	Noonan-Like Syndrome Disorder	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Glu171Lys	rs1553196539	missense variant	-	NC_000001.11:g.22091452G>A	-
CDC42	P60953	p.Glu171Lys	RCV000607619	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Ala176Gly	rs774487946	missense variant	-	NC_000001.11:g.22091468C>G	ExAC,gnomAD
CDC42	P60953	p.Leu177Gln	rs1263922660	missense variant	-	NC_000001.11:g.22091471T>A	gnomAD
CDC42	P60953	p.Glu181Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22091482G>C	NCI-TCGA
CDC42	P60953	p.Glu181GlnSerIle	NCI-TCGA novel	insertion	-	NC_000001.11:g.22091483_22091484insGCAAAGTAT	NCI-TCGA
CDC42	P60953	p.Glu181Gly	rs767533290	missense variant	-	NC_000001.11:g.22091483A>G	ExAC,gnomAD
CDC42	P60953	p.Pro182Leu	rs1240303878	missense variant	-	NC_000001.11:g.22091486C>T	gnomAD
CDC42	P60953	p.Arg186His	rs756680625	missense variant	-	NC_000001.11:g.22091498G>A	ExAC,gnomAD
CDC42	P60953	p.Arg187Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22091501G>T	NCI-TCGA
CDC42	P60953	p.Val189Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.22091507T>G	NCI-TCGA
CDC42	P60953	p.Val189Ala	rs754298921	missense variant	-	NC_000001.11:g.22091507T>C	ExAC,gnomAD
CDC42	P60953	p.Ile4Met	rs1385478360	missense variant	-	NC_000001.11:g.22078490T>G	gnomAD
CDC42	P60953	p.Ile21Thr	RCV000601771	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22078540T>C	ClinVar
CDC42	P60953	p.Ile21Thr	rs1064795845	missense variant	-	NC_000001.11:g.22078540T>C	-
CDC42	P60953	p.Tyr23Cys	RCV000190749	missense variant	Inborn genetic diseases	NC_000001.11:g.22078546A>G	ClinVar
CDC42	P60953	p.Tyr23Cys	rs797044916	missense variant	-	NC_000001.11:g.22078546A>G	-
CDC42	P60953	p.Val36Phe	rs1216194784	missense variant	-	NC_000001.11:g.22081722G>T	gnomAD
CDC42	P60953	p.Val42Ile	RCV000414468	missense variant	-	NC_000001.11:g.22081740G>A	ClinVar
CDC42	P60953	p.Val42Ile	rs1057518022	missense variant	-	NC_000001.11:g.22081740G>A	-
CDC42	P60953	p.Glu49Lys	rs1156458920	missense variant	-	NC_000001.11:g.22081761G>A	gnomAD
CDC42	P60953	p.Tyr51His	rs1401679863	missense variant	-	NC_000001.11:g.22081767T>C	gnomAD
CDC42	P60953	p.Tyr64Cys	RCV000489915	missense variant	-	NC_000001.11:g.22086451A>G	ClinVar
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt,dbSNP
CDC42	P60953	p.Tyr64Cys	VAR_076337	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	-	NC_000001.11:g.22086451A>G	-
CDC42	P60953	p.Arg66Gly	rs797044870	missense variant	-	NC_000001.11:g.22086456A>G	-
CDC42	P60953	p.Arg66Gly	RCV000601199	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg66Gly	RCV000190678	missense variant	Inborn genetic diseases	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg68Gln	rs1553196096	missense variant	-	NC_000001.11:g.22086463G>A	-
CDC42	P60953	p.Arg68Gln	RCV000519757	missense variant	-	NC_000001.11:g.22086463G>A	ClinVar
CDC42	P60953	p.Val77Leu	rs372264403	missense variant	-	NC_000001.11:g.22086489G>C	ESP
CDC42	P60953	p.Cys81Phe	RCV000497401	missense variant	-	NC_000001.11:g.22086502G>T	ClinVar
CDC42	P60953	p.Ser83Pro	RCV000577866	missense variant	-	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Ser83Pro	rs1553196101	missense variant	-	NC_000001.11:g.22086507T>C	-
CDC42	P60953	p.Ser83Pro	RCV000611080	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Phe110Tyr	rs1174303286	missense variant	-	NC_000001.11:g.22086709T>A	gnomAD
CDC42	P60953	p.Gln116Glu	rs1553196119	missense variant	-	NC_000001.11:g.22086726C>G	-
CDC42	P60953	p.Gln116Glu	RCV000520976	missense variant	-	NC_000001.11:g.22086726C>G	ClinVar
CDC42	P60953	p.Asp122Glu	rs766033563	missense variant	-	NC_000001.11:g.22086746C>A	ExAC,gnomAD
CDC42	P60953	p.Ser124Phe	rs1326906815	missense variant	-	NC_000001.11:g.22086751C>T	gnomAD
CDC42	P60953	p.Thr125Ala	rs1401746062	missense variant	-	NC_000001.11:g.22086753A>G	gnomAD
CDC42	P60953	p.Ile126Thr	rs773774873	missense variant	-	NC_000001.11:g.22086757T>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ala130Val	rs1235149233	missense variant	-	NC_000001.11:g.22086769C>T	TOPMed
CDC42	P60953	p.Ala130Ser	rs1299595884	missense variant	-	NC_000001.11:g.22086768G>T	gnomAD
CDC42	P60953	p.Pro136Thr	rs759084319	missense variant	-	NC_000001.11:g.22086786C>A	ExAC,gnomAD
CDC42	P60953	p.Ile137Met	rs752627715	missense variant	-	NC_000001.11:g.22086791C>G	ExAC,gnomAD
CDC42	P60953	p.Ile137Val	rs142108830	missense variant	-	NC_000001.11:g.22086789A>G	ESP,ExAC,TOPMed,gnomAD
CDC42	P60953	p.Pro139Ala	rs1405901539	missense variant	-	NC_000001.11:g.22086795C>G	TOPMed
CDC42	P60953	p.Arg147His	rs1449280793	missense variant	-	NC_000001.11:g.22086820G>A	gnomAD
CDC42	P60953	p.Lys153Arg	rs1199858455	missense variant	-	NC_000001.11:g.22086838A>G	gnomAD
CDC42	P60953	p.Tyr154Cys	rs779188342	missense variant	-	NC_000001.11:g.22086841A>G	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Glu156Asp	rs758444709	missense variant	-	NC_000001.11:g.22086848G>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ala159Val	RCV000577829	missense variant	-	NC_000001.11:g.22086856C>T	ClinVar
CDC42	P60953	p.Ala159Val	rs1553196134	missense variant	-	NC_000001.11:g.22086856C>T	-
CDC42	P60953	p.Leu160Val	rs1362240044	missense variant	-	NC_000001.11:g.22086858C>G	gnomAD
CDC42	P60953	p.Glu171Lys	RCV000577848	missense variant	Noonan-Like Syndrome Disorder	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Glu171Lys	RCV000607619	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Glu171Lys	rs1553196539	missense variant	-	NC_000001.11:g.22091452G>A	-
CDC42	P60953	p.Ala176Gly	rs774487946	missense variant	-	NC_000001.11:g.22091468C>G	ExAC,gnomAD
CDC42	P60953	p.Leu177Gln	rs1263922660	missense variant	-	NC_000001.11:g.22091471T>A	gnomAD
CDC42	P60953	p.Glu181Gly	rs767533290	missense variant	-	NC_000001.11:g.22091483A>G	ExAC,gnomAD
CDC42	P60953	p.Pro182Leu	rs1240303878	missense variant	-	NC_000001.11:g.22091486C>T	gnomAD
CDC42	P60953	p.Arg186His	rs756680625	missense variant	-	NC_000001.11:g.22091498G>A	ExAC,gnomAD
CDC42	P60953	p.Val189Ala	rs754298921	missense variant	-	NC_000001.11:g.22091507T>C	ExAC,gnomAD
CDC42	P60953	p.Ile4Met	rs1385478360	missense variant	-	NC_000001.11:g.22078490T>G	gnomAD
CDC42	P60953	p.Ile21Thr	RCV000601771	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22078540T>C	ClinVar
CDC42	P60953	p.Tyr23Cys	rs797044916	missense variant	-	NC_000001.11:g.22078546A>G	-
CDC42	P60953	p.Tyr23Cys	RCV000190749	missense variant	Inborn genetic diseases	NC_000001.11:g.22078546A>G	ClinVar
CDC42	P60953	p.Val36Phe	rs1216194784	missense variant	-	NC_000001.11:g.22081722G>T	gnomAD
CDC42	P60953	p.Val42Ile	RCV000414468	missense variant	-	NC_000001.11:g.22081740G>A	ClinVar
CDC42	P60953	p.Val42Ile	rs1057518022	missense variant	-	NC_000001.11:g.22081740G>A	-
CDC42	P60953	p.Glu49Lys	rs1156458920	missense variant	-	NC_000001.11:g.22081761G>A	gnomAD
CDC42	P60953	p.Tyr51His	rs1401679863	missense variant	-	NC_000001.11:g.22081767T>C	gnomAD
CDC42	P60953	p.Tyr64Cys	RCV000489915	missense variant	-	NC_000001.11:g.22086451A>G	ClinVar
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt,dbSNP
CDC42	P60953	p.Tyr64Cys	VAR_076337	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	-	NC_000001.11:g.22086451A>G	-
CDC42	P60953	p.Arg66Gly	RCV000601199	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg66Gly	rs797044870	missense variant	-	NC_000001.11:g.22086456A>G	-
CDC42	P60953	p.Arg66Gly	RCV000190678	missense variant	Inborn genetic diseases	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg68Gln	rs1553196096	missense variant	-	NC_000001.11:g.22086463G>A	-
CDC42	P60953	p.Arg68Gln	RCV000519757	missense variant	-	NC_000001.11:g.22086463G>A	ClinVar
CDC42	P60953	p.Val77Leu	rs372264403	missense variant	-	NC_000001.11:g.22086489G>C	ESP
CDC42	P60953	p.Cys81Phe	RCV000497401	missense variant	-	NC_000001.11:g.22086502G>T	ClinVar
CDC42	P60953	p.Ser83Pro	rs1553196101	missense variant	-	NC_000001.11:g.22086507T>C	-
CDC42	P60953	p.Ser83Pro	RCV000577866	missense variant	-	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Ser83Pro	RCV000611080	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Phe110Tyr	rs1174303286	missense variant	-	NC_000001.11:g.22086709T>A	gnomAD
CDC42	P60953	p.Gln116Glu	rs1553196119	missense variant	-	NC_000001.11:g.22086726C>G	-
CDC42	P60953	p.Gln116Glu	RCV000520976	missense variant	-	NC_000001.11:g.22086726C>G	ClinVar
CDC42	P60953	p.Asp122Glu	rs766033563	missense variant	-	NC_000001.11:g.22086746C>A	ExAC,gnomAD
CDC42	P60953	p.Ser124Phe	rs1326906815	missense variant	-	NC_000001.11:g.22086751C>T	gnomAD
CDC42	P60953	p.Thr125Ala	rs1401746062	missense variant	-	NC_000001.11:g.22086753A>G	gnomAD
CDC42	P60953	p.Ile126Thr	rs773774873	missense variant	-	NC_000001.11:g.22086757T>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ala130Ser	rs1299595884	missense variant	-	NC_000001.11:g.22086768G>T	gnomAD
CDC42	P60953	p.Ala130Val	rs1235149233	missense variant	-	NC_000001.11:g.22086769C>T	TOPMed
CDC42	P60953	p.Pro136Thr	rs759084319	missense variant	-	NC_000001.11:g.22086786C>A	ExAC,gnomAD
CDC42	P60953	p.Ile137Met	rs752627715	missense variant	-	NC_000001.11:g.22086791C>G	ExAC,gnomAD
CDC42	P60953	p.Ile137Val	rs142108830	missense variant	-	NC_000001.11:g.22086789A>G	ESP,ExAC,TOPMed,gnomAD
CDC42	P60953	p.Pro139Ala	rs1405901539	missense variant	-	NC_000001.11:g.22086795C>G	TOPMed
CDC42	P60953	p.Arg147His	rs1449280793	missense variant	-	NC_000001.11:g.22086820G>A	gnomAD
CDC42	P60953	p.Lys153Arg	rs1199858455	missense variant	-	NC_000001.11:g.22086838A>G	gnomAD
CDC42	P60953	p.Tyr154Cys	rs779188342	missense variant	-	NC_000001.11:g.22086841A>G	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Glu156Asp	rs758444709	missense variant	-	NC_000001.11:g.22086848G>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ala159Val	rs1553196134	missense variant	-	NC_000001.11:g.22086856C>T	-
CDC42	P60953	p.Ala159Val	RCV000577829	missense variant	-	NC_000001.11:g.22086856C>T	ClinVar
CDC42	P60953	p.Leu160Val	rs1362240044	missense variant	-	NC_000001.11:g.22086858C>G	gnomAD
CDC42	P60953	p.Glu171Lys	rs1553196539	missense variant	-	NC_000001.11:g.22091452G>A	-
CDC42	P60953	p.Glu171Lys	RCV000577848	missense variant	Noonan-Like Syndrome Disorder	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Glu171Lys	RCV000607619	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Ala176Gly	rs774487946	missense variant	-	NC_000001.11:g.22091468C>G	ExAC,gnomAD
CDC42	P60953	p.Leu177Gln	rs1263922660	missense variant	-	NC_000001.11:g.22091471T>A	gnomAD
CDC42	P60953	p.Glu181Gly	rs767533290	missense variant	-	NC_000001.11:g.22091483A>G	ExAC,gnomAD
CDC42	P60953	p.Pro182Leu	rs1240303878	missense variant	-	NC_000001.11:g.22091486C>T	gnomAD
CDC42	P60953	p.Arg186His	rs756680625	missense variant	-	NC_000001.11:g.22091498G>A	ExAC,gnomAD
CDC42	P60953	p.Val189Ala	rs754298921	missense variant	-	NC_000001.11:g.22091507T>C	ExAC,gnomAD
CDC42	P60953	p.Ile4Met	rs1385478360	missense variant	-	NC_000001.11:g.22078490T>G	gnomAD
CDC42	P60953	p.Ile21Thr	RCV000601771	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22078540T>C	ClinVar
CDC42	P60953	p.Tyr23Cys	RCV000190749	missense variant	Inborn genetic diseases	NC_000001.11:g.22078546A>G	ClinVar
CDC42	P60953	p.Tyr23Cys	rs797044916	missense variant	-	NC_000001.11:g.22078546A>G	-
CDC42	P60953	p.Val36Phe	rs1216194784	missense variant	-	NC_000001.11:g.22081722G>T	gnomAD
CDC42	P60953	p.Val42Ile	RCV000414468	missense variant	-	NC_000001.11:g.22081740G>A	ClinVar
CDC42	P60953	p.Val42Ile	rs1057518022	missense variant	-	NC_000001.11:g.22081740G>A	-
CDC42	P60953	p.Glu49Lys	rs1156458920	missense variant	-	NC_000001.11:g.22081761G>A	gnomAD
CDC42	P60953	p.Tyr51His	rs1401679863	missense variant	-	NC_000001.11:g.22081767T>C	gnomAD
CDC42	P60953	p.Tyr64Cys	RCV000489915	missense variant	-	NC_000001.11:g.22086451A>G	ClinVar
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt,dbSNP
CDC42	P60953	p.Tyr64Cys	VAR_076337	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	-	NC_000001.11:g.22086451A>G	-
CDC42	P60953	p.Arg66Gly	rs797044870	missense variant	-	NC_000001.11:g.22086456A>G	-
CDC42	P60953	p.Arg66Gly	RCV000601199	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg66Gly	RCV000190678	missense variant	Inborn genetic diseases	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg68Gln	RCV000519757	missense variant	-	NC_000001.11:g.22086463G>A	ClinVar
CDC42	P60953	p.Arg68Gln	rs1553196096	missense variant	-	NC_000001.11:g.22086463G>A	-
CDC42	P60953	p.Val77Leu	rs372264403	missense variant	-	NC_000001.11:g.22086489G>C	ESP
CDC42	P60953	p.Cys81Phe	RCV000497401	missense variant	-	NC_000001.11:g.22086502G>T	ClinVar
CDC42	P60953	p.Ser83Pro	RCV000611080	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Ser83Pro	RCV000577866	missense variant	-	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Ser83Pro	rs1553196101	missense variant	-	NC_000001.11:g.22086507T>C	-
CDC42	P60953	p.Phe110Tyr	rs1174303286	missense variant	-	NC_000001.11:g.22086709T>A	gnomAD
CDC42	P60953	p.Gln116Glu	RCV000520976	missense variant	-	NC_000001.11:g.22086726C>G	ClinVar
CDC42	P60953	p.Gln116Glu	rs1553196119	missense variant	-	NC_000001.11:g.22086726C>G	-
CDC42	P60953	p.Asp122Glu	rs766033563	missense variant	-	NC_000001.11:g.22086746C>A	ExAC,gnomAD
CDC42	P60953	p.Ser124Phe	rs1326906815	missense variant	-	NC_000001.11:g.22086751C>T	gnomAD
CDC42	P60953	p.Thr125Ala	rs1401746062	missense variant	-	NC_000001.11:g.22086753A>G	gnomAD
CDC42	P60953	p.Ile126Thr	rs773774873	missense variant	-	NC_000001.11:g.22086757T>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ala130Ser	rs1299595884	missense variant	-	NC_000001.11:g.22086768G>T	gnomAD
CDC42	P60953	p.Ala130Val	rs1235149233	missense variant	-	NC_000001.11:g.22086769C>T	TOPMed
CDC42	P60953	p.Pro136Thr	rs759084319	missense variant	-	NC_000001.11:g.22086786C>A	ExAC,gnomAD
CDC42	P60953	p.Ile137Met	rs752627715	missense variant	-	NC_000001.11:g.22086791C>G	ExAC,gnomAD
CDC42	P60953	p.Ile137Val	rs142108830	missense variant	-	NC_000001.11:g.22086789A>G	ESP,ExAC,TOPMed,gnomAD
CDC42	P60953	p.Pro139Ala	rs1405901539	missense variant	-	NC_000001.11:g.22086795C>G	TOPMed
CDC42	P60953	p.Arg147His	rs1449280793	missense variant	-	NC_000001.11:g.22086820G>A	gnomAD
CDC42	P60953	p.Lys153Arg	rs1199858455	missense variant	-	NC_000001.11:g.22086838A>G	gnomAD
CDC42	P60953	p.Tyr154Cys	rs779188342	missense variant	-	NC_000001.11:g.22086841A>G	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Glu156Asp	rs758444709	missense variant	-	NC_000001.11:g.22086848G>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ala159Val	rs1553196134	missense variant	-	NC_000001.11:g.22086856C>T	-
CDC42	P60953	p.Ala159Val	RCV000577829	missense variant	-	NC_000001.11:g.22086856C>T	ClinVar
CDC42	P60953	p.Leu160Val	rs1362240044	missense variant	-	NC_000001.11:g.22086858C>G	gnomAD
CDC42	P60953	p.Glu171Lys	RCV000607619	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Glu171Lys	rs1553196539	missense variant	-	NC_000001.11:g.22091452G>A	-
CDC42	P60953	p.Glu171Lys	RCV000577848	missense variant	Noonan-Like Syndrome Disorder	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Ala176Gly	rs774487946	missense variant	-	NC_000001.11:g.22091468C>G	ExAC,gnomAD
CDC42	P60953	p.Leu177Gln	rs1263922660	missense variant	-	NC_000001.11:g.22091471T>A	gnomAD
CDC42	P60953	p.Glu181Gly	rs767533290	missense variant	-	NC_000001.11:g.22091483A>G	ExAC,gnomAD
CDC42	P60953	p.Pro182Leu	rs1240303878	missense variant	-	NC_000001.11:g.22091486C>T	gnomAD
CDC42	P60953	p.Arg186His	rs756680625	missense variant	-	NC_000001.11:g.22091498G>A	ExAC,gnomAD
CDC42	P60953	p.Val189Ala	rs754298921	missense variant	-	NC_000001.11:g.22091507T>C	ExAC,gnomAD
CDC42	P60953	p.Ile4Met	rs1385478360	missense variant	-	NC_000001.11:g.22078490T>G	gnomAD
CDC42	P60953	p.Ile21Thr	rs1064795845	missense variant	-	NC_000001.11:g.22078540T>C	-
CDC42	P60953	p.Ile21Thr	RCV000601771	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22078540T>C	ClinVar
CDC42	P60953	p.Tyr23Cys	rs797044916	missense variant	-	NC_000001.11:g.22078546A>G	-
CDC42	P60953	p.Tyr23Cys	RCV000190749	missense variant	Inborn genetic diseases	NC_000001.11:g.22078546A>G	ClinVar
CDC42	P60953	p.Val36Phe	rs1216194784	missense variant	-	NC_000001.11:g.22081722G>T	gnomAD
CDC42	P60953	p.Val42Ile	rs1057518022	missense variant	-	NC_000001.11:g.22081740G>A	-
CDC42	P60953	p.Val42Ile	RCV000414468	missense variant	-	NC_000001.11:g.22081740G>A	ClinVar
CDC42	P60953	p.Glu49Lys	rs1156458920	missense variant	-	NC_000001.11:g.22081761G>A	gnomAD
CDC42	P60953	p.Tyr51His	rs1401679863	missense variant	-	NC_000001.11:g.22081767T>C	gnomAD
CDC42	P60953	p.Tyr64Cys	RCV000489915	missense variant	-	NC_000001.11:g.22086451A>G	ClinVar
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt,dbSNP
CDC42	P60953	p.Tyr64Cys	VAR_076337	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086451A>G	UniProt
CDC42	P60953	p.Tyr64Cys	rs864309721	missense variant	-	NC_000001.11:g.22086451A>G	-
CDC42	P60953	p.Arg66Gly	RCV000601199	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg66Gly	rs797044870	missense variant	-	NC_000001.11:g.22086456A>G	-
CDC42	P60953	p.Arg66Gly	RCV000190678	missense variant	Inborn genetic diseases	NC_000001.11:g.22086456A>G	ClinVar
CDC42	P60953	p.Arg68Gln	RCV000519757	missense variant	-	NC_000001.11:g.22086463G>A	ClinVar
CDC42	P60953	p.Arg68Gln	rs1553196096	missense variant	-	NC_000001.11:g.22086463G>A	-
CDC42	P60953	p.Val77Leu	rs372264403	missense variant	-	NC_000001.11:g.22086489G>C	ESP
CDC42	P60953	p.Cys81Phe	RCV000497401	missense variant	-	NC_000001.11:g.22086502G>T	ClinVar
CDC42	P60953	p.Ser83Pro	RCV000611080	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Ser83Pro	rs1553196101	missense variant	-	NC_000001.11:g.22086507T>C	-
CDC42	P60953	p.Ser83Pro	RCV000577866	missense variant	-	NC_000001.11:g.22086507T>C	ClinVar
CDC42	P60953	p.Phe110Tyr	rs1174303286	missense variant	-	NC_000001.11:g.22086709T>A	gnomAD
CDC42	P60953	p.Gln116Glu	RCV000520976	missense variant	-	NC_000001.11:g.22086726C>G	ClinVar
CDC42	P60953	p.Gln116Glu	rs1553196119	missense variant	-	NC_000001.11:g.22086726C>G	-
CDC42	P60953	p.Asp122Glu	rs766033563	missense variant	-	NC_000001.11:g.22086746C>A	ExAC,gnomAD
CDC42	P60953	p.Ser124Phe	rs1326906815	missense variant	-	NC_000001.11:g.22086751C>T	gnomAD
CDC42	P60953	p.Thr125Ala	rs1401746062	missense variant	-	NC_000001.11:g.22086753A>G	gnomAD
CDC42	P60953	p.Ile126Thr	rs773774873	missense variant	-	NC_000001.11:g.22086757T>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ala130Val	rs1235149233	missense variant	-	NC_000001.11:g.22086769C>T	TOPMed
CDC42	P60953	p.Ala130Ser	rs1299595884	missense variant	-	NC_000001.11:g.22086768G>T	gnomAD
CDC42	P60953	p.Pro136Thr	rs759084319	missense variant	-	NC_000001.11:g.22086786C>A	ExAC,gnomAD
CDC42	P60953	p.Ile137Val	rs142108830	missense variant	-	NC_000001.11:g.22086789A>G	ESP,ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ile137Met	rs752627715	missense variant	-	NC_000001.11:g.22086791C>G	ExAC,gnomAD
CDC42	P60953	p.Pro139Ala	rs1405901539	missense variant	-	NC_000001.11:g.22086795C>G	TOPMed
CDC42	P60953	p.Arg147His	rs1449280793	missense variant	-	NC_000001.11:g.22086820G>A	gnomAD
CDC42	P60953	p.Lys153Arg	rs1199858455	missense variant	-	NC_000001.11:g.22086838A>G	gnomAD
CDC42	P60953	p.Tyr154Cys	rs779188342	missense variant	-	NC_000001.11:g.22086841A>G	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Glu156Asp	rs758444709	missense variant	-	NC_000001.11:g.22086848G>C	ExAC,TOPMed,gnomAD
CDC42	P60953	p.Ala159Val	RCV000577829	missense variant	-	NC_000001.11:g.22086856C>T	ClinVar
CDC42	P60953	p.Ala159Val	rs1553196134	missense variant	-	NC_000001.11:g.22086856C>T	-
CDC42	P60953	p.Leu160Val	rs1362240044	missense variant	-	NC_000001.11:g.22086858C>G	gnomAD
CDC42	P60953	p.Glu171Lys	RCV000577848	missense variant	Noonan-Like Syndrome Disorder	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Glu171Lys	rs1553196539	missense variant	-	NC_000001.11:g.22091452G>A	-
CDC42	P60953	p.Glu171Lys	RCV000607619	missense variant	Takenouchi-Kosaki syndrome (TKS)	NC_000001.11:g.22091452G>A	ClinVar
CDC42	P60953	p.Ala176Gly	rs774487946	missense variant	-	NC_000001.11:g.22091468C>G	ExAC,gnomAD
CDC42	P60953	p.Leu177Gln	rs1263922660	missense variant	-	NC_000001.11:g.22091471T>A	gnomAD
CDC42	P60953	p.Glu181Gly	rs767533290	missense variant	-	NC_000001.11:g.22091483A>G	ExAC,gnomAD
CDC42	P60953	p.Pro182Leu	rs1240303878	missense variant	-	NC_000001.11:g.22091486C>T	gnomAD
CDC42	P60953	p.Arg186His	rs756680625	missense variant	-	NC_000001.11:g.22091498G>A	ExAC,gnomAD
CDC42	P60953	p.Val189Ala	rs754298921	missense variant	-	NC_000001.11:g.22091507T>C	ExAC,gnomAD
HAND2	P61296	p.Gly5Ser	rs550068906	missense variant	-	NC_000004.12:g.173529277C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Pro8Ser	rs905723042	missense variant	-	NC_000004.12:g.173529268G>A	TOPMed,gnomAD
HAND2	P61296	p.His10Gln	rs896779887	missense variant	-	NC_000004.12:g.173529260G>C	TOPMed,gnomAD
HAND2	P61296	p.His14Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173529249T>C	NCI-TCGA
HAND2	P61296	p.Pro19Ala	rs774429970	missense variant	-	NC_000004.12:g.173529235G>C	ExAC,gnomAD
HAND2	P61296	p.Ala21Val	rs1439012129	missense variant	-	NC_000004.12:g.173529228G>A	TOPMed
HAND2	P61296	p.Ala21Thr	rs567960889	missense variant	-	NC_000004.12:g.173529229C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ala22Pro	rs867226231	missense variant	-	NC_000004.12:g.173529226C>G	TOPMed,gnomAD
HAND2	P61296	p.Ala22Thr	rs867226231	missense variant	-	NC_000004.12:g.173529226C>T	TOPMed,gnomAD
HAND2	P61296	p.Ala22Gly	rs1332467249	missense variant	-	NC_000004.12:g.173529225G>C	TOPMed,gnomAD
HAND2	P61296	p.Ala23Thr	COSM4648777	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529223C>T	NCI-TCGA Cosmic
HAND2	P61296	p.Ala23Val	rs1429239453	missense variant	-	NC_000004.12:g.173529222G>A	gnomAD
HAND2	P61296	p.Ala28Val	rs1362459325	missense variant	-	NC_000004.12:g.173529207G>A	gnomAD
HAND2	P61296	p.Ala30Pro	rs754791452	missense variant	-	NC_000004.12:g.173529202C>G	ExAC,gnomAD
HAND2	P61296	p.Ser33Arg	rs1365269294	missense variant	-	NC_000004.12:g.173529191G>C	TOPMed
HAND2	P61296	p.Arg34Cys	rs979011359	missense variant	-	NC_000004.12:g.173529190G>A	TOPMed
HAND2	P61296	p.Arg34Ser	rs979011359	missense variant	-	NC_000004.12:g.173529190G>T	TOPMed
HAND2	P61296	p.Ser36Asn	rs547459770	missense variant	-	NC_000004.12:g.173529183C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Glu38Gln	rs1273179865	missense variant	-	NC_000004.12:g.173529178C>G	gnomAD
HAND2	P61296	p.Glu39Gly	rs1292865331	missense variant	-	NC_000004.12:g.173529174T>C	gnomAD
HAND2	P61296	p.Glu39Lys	rs1308700093	missense variant	-	NC_000004.12:g.173529175C>T	gnomAD
HAND2	P61296	p.Pro41Ser	rs1277911492	missense variant	-	NC_000004.12:g.173529169G>A	TOPMed
HAND2	P61296	p.Pro41Ala	rs1277911492	missense variant	-	NC_000004.12:g.173529169G>C	TOPMed
HAND2	P61296	p.Tyr42Asn	COSM3993551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529166A>T	NCI-TCGA Cosmic
HAND2	P61296	p.Tyr42Cys	rs1358575528	missense variant	-	NC_000004.12:g.173529165T>C	TOPMed
HAND2	P61296	p.Phe43Ser	rs756686416	missense variant	-	NC_000004.12:g.173529162A>G	ExAC,gnomAD
HAND2	P61296	p.Phe43Cys	rs756686416	missense variant	-	NC_000004.12:g.173529162A>C	ExAC,gnomAD
HAND2	P61296	p.His44Arg	rs200710796	missense variant	-	NC_000004.12:g.173529159T>C	1000Genomes,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly45Cys	COSM733104	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529157C>A	NCI-TCGA Cosmic
HAND2	P61296	p.Ile48Leu	rs764644474	missense variant	-	NC_000004.12:g.173529148T>G	ExAC,gnomAD
HAND2	P61296	p.His50Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173529142G>T	NCI-TCGA
HAND2	P61296	p.His50Tyr	rs1171360005	missense variant	-	NC_000004.12:g.173529142G>A	gnomAD
HAND2	P61296	p.Pro55Leu	COSM3602062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529126G>A	NCI-TCGA Cosmic
HAND2	P61296	p.Pro55Ser	rs767645308	missense variant	-	NC_000004.12:g.173529127G>A	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Pro56Leu	rs1428082252	missense variant	-	NC_000004.12:g.173529123G>A	gnomAD
HAND2	P61296	p.Asp57Asn	rs759859247	missense variant	-	NC_000004.12:g.173529121C>T	ExAC
HAND2	P61296	p.Ser59Asn	rs774432570	missense variant	-	NC_000004.12:g.173529114C>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ser59Thr	rs774432570	missense variant	-	NC_000004.12:g.173529114C>G	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ser59Arg	rs1395977416	missense variant	-	NC_000004.12:g.173529115T>G	gnomAD
HAND2	P61296	p.Met60Val	rs1467445458	missense variant	-	NC_000004.12:g.173529112T>C	gnomAD
HAND2	P61296	p.Met60Ile	rs1252893762	missense variant	-	NC_000004.12:g.173529110C>A	gnomAD
HAND2	P61296	p.Leu62Arg	rs1035725877	missense variant	-	NC_000004.12:g.173529105A>C	TOPMed,gnomAD
HAND2	P61296	p.Ser63Phe	COSM3602061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173529102G>A	NCI-TCGA Cosmic
HAND2	P61296	p.Ser63Tyr	rs771092361	missense variant	-	NC_000004.12:g.173529102G>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ser63Cys	rs771092361	missense variant	-	NC_000004.12:g.173529102G>C	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Tyr64Cys	rs374157343	missense variant	-	NC_000004.12:g.173529099T>C	ESP,TOPMed,gnomAD
HAND2	P61296	p.Ser65Ile	rs749318216	missense variant	-	NC_000004.12:g.173529096C>A	ExAC,gnomAD
HAND2	P61296	p.Ser65Thr	rs749318216	missense variant	-	NC_000004.12:g.173529096C>G	ExAC,gnomAD
HAND2	P61296	p.Glu67Ter	RCV000656722	nonsense	Dilated cardiomyopathy 1A (CMD1A)	NC_000004.12:g.173529091C>A	ClinVar
HAND2	P61296	p.Glu67Ter	rs1553974835	stop gained	-	NC_000004.12:g.173529091C>A	-
HAND2	P61296	p.Ala69Asp	rs768515588	missense variant	-	NC_000004.12:g.173529084G>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ala72Thr	rs779885625	missense variant	-	NC_000004.12:g.173529076C>T	ExAC,gnomAD
HAND2	P61296	p.Ala72Val	rs758127022	missense variant	-	NC_000004.12:g.173529075G>A	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ala73Thr	rs745578357	missense variant	-	NC_000004.12:g.173529073C>T	ExAC,gnomAD
HAND2	P61296	p.Ala73Val	rs1395886093	missense variant	-	NC_000004.12:g.173529072G>A	TOPMed,gnomAD
HAND2	P61296	p.Gly74Ser	rs778403813	missense variant	-	NC_000004.12:g.173529070C>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly74Cys	rs778403813	missense variant	-	NC_000004.12:g.173529070C>A	ExAC,TOPMed,gnomAD
HAND2	P61296	p.His79Arg	rs1394789783	missense variant	-	NC_000004.12:g.173529054T>C	gnomAD
HAND2	P61296	p.His79Leu	rs1394789783	missense variant	-	NC_000004.12:g.173529054T>A	gnomAD
HAND2	P61296	p.Gly81Arg	rs753355279	missense variant	-	NC_000004.12:g.173529049C>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly81Arg	rs753355279	missense variant	-	NC_000004.12:g.173529049C>G	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly81Trp	rs753355279	missense variant	-	NC_000004.12:g.173529049C>A	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly82Arg	rs1194709906	missense variant	-	NC_000004.12:g.173529046C>T	gnomAD
HAND2	P61296	p.Val83CysPheSerTerUnkUnk	COSM3336804	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.173529043C>-	NCI-TCGA Cosmic
HAND2	P61296	p.Val83Leu	rs756632787	missense variant	-	NC_000004.12:g.173529043C>G	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Val83Met	rs756632787	missense variant	-	NC_000004.12:g.173529043C>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Val83Leu	rs756632787	missense variant	-	NC_000004.12:g.173529043C>A	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Pro85Leu	rs1346705580	missense variant	-	NC_000004.12:g.173529036G>A	gnomAD
HAND2	P61296	p.Gly86Ser	rs1240987894	missense variant	-	NC_000004.12:g.173529034C>T	gnomAD
HAND2	P61296	p.Gly86Ala	rs767992646	missense variant	-	NC_000004.12:g.173529033C>G	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ala87Asp	rs759798066	missense variant	-	NC_000004.12:g.173529030G>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ala87Val	rs759798066	missense variant	-	NC_000004.12:g.173529030G>A	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ala87Ser	rs1306248326	missense variant	-	NC_000004.12:g.173529031C>A	TOPMed,gnomAD
HAND2	P61296	p.Gly88Arg	rs932408458	missense variant	-	NC_000004.12:g.173529028C>T	TOPMed,gnomAD
HAND2	P61296	p.Gly88Trp	rs932408458	missense variant	-	NC_000004.12:g.173529028C>A	TOPMed,gnomAD
HAND2	P61296	p.Pro89Ser	rs1433031333	missense variant	-	NC_000004.12:g.173529025G>A	gnomAD
HAND2	P61296	p.Pro90Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173529022G>A	NCI-TCGA
HAND2	P61296	p.Pro90ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.173529021G>-	NCI-TCGA
HAND2	P61296	p.Pro90Arg	rs766470524	missense variant	-	NC_000004.12:g.173529021G>C	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Pro90Leu	rs766470524	missense variant	-	NC_000004.12:g.173529021G>A	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly91Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173529019C>A	NCI-TCGA
HAND2	P61296	p.Leu92Arg	rs769848533	missense variant	-	NC_000004.12:g.173529015A>C	ExAC,gnomAD
HAND2	P61296	p.Gly93Arg	rs529197560	missense variant	-	NC_000004.12:g.173529013C>T	1000Genomes,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly93Arg	rs529197560	missense variant	-	NC_000004.12:g.173529013C>G	1000Genomes,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly93Ala	rs1475839567	missense variant	-	NC_000004.12:g.173529012C>G	gnomAD
HAND2	P61296	p.Gly93Trp	rs529197560	missense variant	-	NC_000004.12:g.173529013C>A	1000Genomes,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly94Glu	rs140589459	missense variant	-	NC_000004.12:g.173529009C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly94Ala	rs140589459	missense variant	-	NC_000004.12:g.173529009C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Gly94Val	rs140589459	missense variant	-	NC_000004.12:g.173529009C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Pro95Arg	rs970062302	missense variant	-	NC_000004.12:g.173529006G>C	TOPMed,gnomAD
HAND2	P61296	p.Pro95ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.173529008C>-	NCI-TCGA
HAND2	P61296	p.Pro95Leu	rs970062302	missense variant	-	NC_000004.12:g.173529006G>A	TOPMed,gnomAD
HAND2	P61296	p.Pro95Gln	rs970062302	missense variant	-	NC_000004.12:g.173529006G>T	TOPMed,gnomAD
HAND2	P61296	p.Pro95Ala	rs75152023	missense variant	-	NC_000004.12:g.173529007G>C	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Arg96Leu	rs1284601345	missense variant	-	NC_000004.12:g.173529003C>A	gnomAD
HAND2	P61296	p.Pro97Gln	rs751803965	missense variant	-	NC_000004.12:g.173529000G>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Pro97Arg	rs751803965	missense variant	-	NC_000004.12:g.173529000G>C	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Val98Leu	rs763216425	missense variant	-	NC_000004.12:g.173528998C>A	ExAC,gnomAD
HAND2	P61296	p.Arg100His	rs897228645	missense variant	-	NC_000004.12:g.173528991C>T	gnomAD
HAND2	P61296	p.Arg100Cys	rs1357304858	missense variant	-	NC_000004.12:g.173528992G>A	gnomAD
HAND2	P61296	p.Arg100Pro	rs897228645	missense variant	-	NC_000004.12:g.173528991C>G	gnomAD
HAND2	P61296	p.Arg101Gly	rs750637353	missense variant	-	NC_000004.12:g.173528989G>C	ExAC,gnomAD
HAND2	P61296	p.Ala104Asp	COSM447613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528979G>T	NCI-TCGA Cosmic
HAND2	P61296	p.Ala104Thr	rs761855385	missense variant	-	NC_000004.12:g.173528980C>T	ExAC,gnomAD
HAND2	P61296	p.Ala104Ser	rs761855385	missense variant	-	NC_000004.12:g.173528980C>A	ExAC,gnomAD
HAND2	P61296	p.Arg106Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528974G>A	NCI-TCGA
HAND2	P61296	p.Arg106Ser	rs1383210936	missense variant	-	NC_000004.12:g.173528974G>T	gnomAD
HAND2	P61296	p.Arg106Gly	rs1383210936	missense variant	-	NC_000004.12:g.173528974G>C	gnomAD
HAND2	P61296	p.Arg110Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528962G>A	NCI-TCGA
HAND2	P61296	p.Gln113His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528951C>A	NCI-TCGA
HAND2	P61296	p.Ser117Arg	rs771868475	missense variant	-	NC_000004.12:g.173528939G>T	ExAC,gnomAD
HAND2	P61296	p.Ser117Gly	rs1420723364	missense variant	-	NC_000004.12:g.173528941T>C	gnomAD
HAND2	P61296	p.Ser117Asn	rs1162160014	missense variant	-	NC_000004.12:g.173528940C>T	gnomAD
HAND2	P61296	p.Ala118Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528938C>T	NCI-TCGA
HAND2	P61296	p.Ala120Thr	rs1429418429	missense variant	-	NC_000004.12:g.173528932C>T	gnomAD
HAND2	P61296	p.Glu121Asp	COSM3602060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528927T>A	NCI-TCGA Cosmic
HAND2	P61296	p.Glu124Gln	COSM1309904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528920C>G	NCI-TCGA Cosmic
HAND2	P61296	p.Ile126Thr	rs770837533	missense variant	-	NC_000004.12:g.173528913A>G	ExAC,gnomAD
HAND2	P61296	p.Asn128ThrPheSerTerUnkUnk	COSM4689463	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.173528909G>-	NCI-TCGA Cosmic
HAND2	P61296	p.Val129Leu	rs199503638	missense variant	-	NC_000004.12:g.173528905C>A	1000Genomes,ExAC,gnomAD
HAND2	P61296	p.Leu135Phe	rs1355675033	missense variant	-	NC_000004.12:g.173528887G>A	gnomAD
HAND2	P61296	p.Ser136Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528883G>A	NCI-TCGA
HAND2	P61296	p.Lys139Arg	rs1324921033	missense variant	-	NC_000004.12:g.173528874T>C	gnomAD
HAND2	P61296	p.Thr140Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528872T>C	NCI-TCGA
HAND2	P61296	p.Leu141Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528869G>T	NCI-TCGA
HAND2	P61296	p.Arg142Cys	COSM3729286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528866G>A	NCI-TCGA Cosmic
HAND2	P61296	p.Arg142His	COSM586680	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528865C>T	NCI-TCGA Cosmic
HAND2	P61296	p.Leu143Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528863G>T	NCI-TCGA
HAND2	P61296	p.Ala149Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528845C>A	NCI-TCGA
HAND2	P61296	p.Ala149Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528845C>T	NCI-TCGA
HAND2	P61296	p.Met152Ile	COSM6167019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528834C>A	NCI-TCGA Cosmic
HAND2	P61296	p.Asp153Gly	rs750688415	missense variant	-	NC_000004.12:g.173528832T>C	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ala156Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528823G>A	NCI-TCGA
HAND2	P61296	p.Ala156Ser	rs576414861	missense variant	-	NC_000004.12:g.173528824C>A	1000Genomes,ExAC,gnomAD
HAND2	P61296	p.Lys157Asn	rs1372215619	missense variant	-	NC_000004.12:g.173528819C>A	gnomAD
HAND2	P61296	p.Asp158Asn	rs767505770	missense variant	-	NC_000004.12:g.173528818C>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Asp159Tyr	rs369169952	missense variant	-	NC_000004.12:g.173528815C>A	ESP,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Asp159Asn	rs369169952	missense variant	-	NC_000004.12:g.173528815C>T	ESP,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Asn161Lys	rs1432074141	missense variant	-	NC_000004.12:g.173528807A>C	TOPMed
HAND2	P61296	p.Gly162Asp	rs1212950364	missense variant	-	NC_000004.12:g.173528805C>T	gnomAD
HAND2	P61296	p.Gly162Ser	rs932886269	missense variant	-	NC_000004.12:g.173528806C>T	TOPMed,gnomAD
HAND2	P61296	p.Gly162Ala	rs1212950364	missense variant	-	NC_000004.12:g.173528805C>G	gnomAD
HAND2	P61296	p.Glu163Gln	rs200277716	missense variant	-	NC_000004.12:g.173528803C>G	NCI-TCGA
HAND2	P61296	p.Glu163Val	rs980174389	missense variant	-	NC_000004.12:g.173528802T>A	TOPMed
HAND2	P61296	p.Glu163Gln	rs200277716	missense variant	-	NC_000004.12:g.173528803C>G	1000Genomes,ExAC,gnomAD
HAND2	P61296	p.Glu163Ter	rs200277716	stop gained	-	NC_000004.12:g.173528803C>A	1000Genomes,ExAC,gnomAD
HAND2	P61296	p.Ala164Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528799G>A	NCI-TCGA
HAND2	P61296	p.Glu165Lys	rs773029738	missense variant	-	NC_000004.12:g.173528797C>T	ExAC,gnomAD
HAND2	P61296	p.Ala166Asp	rs1042697968	missense variant	-	NC_000004.12:g.173528793G>T	TOPMed
HAND2	P61296	p.Ala166Thr	rs751134778	missense variant	-	NC_000004.12:g.173528794C>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ala166Gly	rs1042697968	missense variant	-	NC_000004.12:g.173528793G>C	TOPMed
HAND2	P61296	p.Lys168Asn	rs776061276	missense variant	-	NC_000004.12:g.173528786C>A	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Lys168Asn	rs776061276	missense variant	-	NC_000004.12:g.173528786C>A	NCI-TCGA
HAND2	P61296	p.Ala169GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.173528786_173528787insT	NCI-TCGA
HAND2	P61296	p.Ala169Val	rs1235452646	missense variant	-	NC_000004.12:g.173528784G>A	gnomAD
HAND2	P61296	p.Glu170Lys	rs1214669150	missense variant	-	NC_000004.12:g.173528782C>T	gnomAD
HAND2	P61296	p.Glu170Lys	rs1214669150	missense variant	-	NC_000004.12:g.173528782C>T	NCI-TCGA Cosmic
HAND2	P61296	p.Asp175Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173528767C>T	NCI-TCGA
HAND2	P61296	p.Val176Met	rs780513534	missense variant	-	NC_000004.12:g.173528764C>T	NCI-TCGA
HAND2	P61296	p.Val176Met	rs780513534	missense variant	-	NC_000004.12:g.173528764C>T	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Val176Leu	rs780513534	missense variant	-	NC_000004.12:g.173528764C>G	ExAC,TOPMed,gnomAD
HAND2	P61296	p.Glu178Lys	rs758781153	missense variant	-	NC_000004.12:g.173528758C>T	ExAC,gnomAD
HAND2	P61296	p.Lys180Asn	COSM447612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173528750C>G	NCI-TCGA Cosmic
HAND2	P61296	p.Asn186Lys	rs1309873792	missense variant	-	NC_000004.12:g.173527373G>C	TOPMed,gnomAD
HAND2	P61296	p.Glu187Lys	rs866374463	missense variant	-	NC_000004.12:g.173527372C>T	-
HAND2	P61296	p.Glu187Lys	rs866374463	missense variant	-	NC_000004.12:g.173527372C>T	NCI-TCGA Cosmic
HAND2	P61296	p.Ile188Met	rs771323605	missense variant	-	NC_000004.12:g.173527367G>C	ExAC,gnomAD
HAND2	P61296	p.Leu189Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173527366A>T	NCI-TCGA
HAND2	P61296	p.Leu189Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173527364C>G	NCI-TCGA
HAND2	P61296	p.Leu189Ser	rs1278510134	missense variant	-	NC_000004.12:g.173527365A>G	gnomAD
HAND2	P61296	p.Thr192Pro	rs377126398	missense variant	-	NC_000004.12:g.173527357T>G	ESP,TOPMed,gnomAD
HAND2	P61296	p.Ser194Gly	rs752758523	missense variant	-	NC_000004.12:g.173527351T>C	ExAC,gnomAD
HAND2	P61296	p.Ser194Cys	rs752758523	missense variant	-	NC_000004.12:g.173527351T>A	ExAC,gnomAD
HAND2	P61296	p.Ser195Arg	rs368269900	missense variant	-	NC_000004.12:g.173527346G>T	ESP,ExAC,TOPMed,gnomAD
HAND2	P61296	p.Ser195Asn	rs1329095136	missense variant	-	NC_000004.12:g.173527347C>T	gnomAD
HAND2	P61296	p.Asn196Lys	rs758466235	missense variant	-	NC_000004.12:g.173527343G>T	ExAC,gnomAD
HAND2	P61296	p.Asp197His	rs1353144419	missense variant	-	NC_000004.12:g.173527342C>G	gnomAD
HAND2	P61296	p.Lys198Asn	rs79728781	missense variant	-	NC_000004.12:g.173527337C>G	ExAC,gnomAD
HAND2	P61296	p.Thr200Ile	rs1239151504	missense variant	-	NC_000004.12:g.173527332G>A	TOPMed
HAND2	P61296	p.Thr200Ile	rs1239151504	missense variant	-	NC_000004.12:g.173527332G>A	NCI-TCGA Cosmic
HAND2	P61296	p.Gly202Cys	COSM733105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173527327C>A	NCI-TCGA Cosmic
HAND2	P61296	p.Arg203Gln	COSM3428340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173527323C>T	NCI-TCGA Cosmic
HAND2	P61296	p.Arg203Trp	rs1283528814	missense variant	-	NC_000004.12:g.173527324G>A	TOPMed
HAND2	P61296	p.Thr204Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.173527321T>A	NCI-TCGA
HAND2	P61296	p.Gly205Cys	COSM6167020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.173527318C>A	NCI-TCGA Cosmic
HAND2	P61296	p.His209Tyr	rs763758141	missense variant	-	NC_000004.12:g.173527306G>A	ExAC,gnomAD
HAND2	P61296	p.His209Gln	rs1449357347	missense variant	-	NC_000004.12:g.173527304G>T	TOPMed
HAND2	P61296	p.Glu214Asp	rs1165712738	missense variant	-	NC_000004.12:g.173527289C>A	gnomAD
HAND2	P61296	p.Leu215Ile	rs998181198	missense variant	-	NC_000004.12:g.173527288G>T	TOPMed
HAND2	P61296	p.Lys216Asn	rs998090089	missense variant	-	NC_000004.12:g.173527283C>G	TOPMed,gnomAD
HAND2	P61296	p.Gln217Pro	rs140861359	missense variant	-	NC_000004.12:g.173527281T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.His2Arg	rs187697359	missense variant	-	NC_000001.11:g.218346706A>G	1000Genomes,ExAC,gnomAD
TGFB2	P61812	p.Cys4Tyr	rs776628524	missense variant	-	NC_000001.11:g.218346712G>A	ExAC,gnomAD
TGFB2	P61812	p.Leu6Pro	rs1553292060	missense variant	-	NC_000001.11:g.218346718T>C	-
TGFB2	P61812	p.Leu6Pro	RCV000634159	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218346718T>C	ClinVar
TGFB2	P61812	p.Ser7Asn	rs765477784	missense variant	-	NC_000001.11:g.218346721G>A	ExAC,gnomAD
TGFB2	P61812	p.Ala8Val	rs763141894	missense variant	-	NC_000001.11:g.218346724C>T	ExAC,TOPMed
TGFB2	P61812	p.Ala8Ser	rs752870701	missense variant	-	NC_000001.11:g.218346723G>T	ExAC,TOPMed
TGFB2	P61812	p.Ile11Thr	COSM4392068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218346733T>C	NCI-TCGA Cosmic
TGFB2	P61812	p.His13Asn	RCV000634163	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218346738C>A	ClinVar
TGFB2	P61812	p.His13Asn	rs763918203	missense variant	-	NC_000001.11:g.218346738C>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.His13Asn	RCV000347838	missense variant	Loeys-Dietz syndrome (LDS)	NC_000001.11:g.218346738C>A	ClinVar
TGFB2	P61812	p.Thr16Met	rs1173342696	missense variant	-	NC_000001.11:g.218346748C>T	TOPMed
TGFB2	P61812	p.Thr16Ala	rs1423446403	missense variant	-	NC_000001.11:g.218346747A>G	TOPMed
TGFB2	P61812	p.Val17Ile	rs1334873734	missense variant	-	NC_000001.11:g.218346750G>A	gnomAD
TGFB2	P61812	p.Ala18Thr	RCV000395786	missense variant	Loeys-Dietz syndrome (LDS)	NC_000001.11:g.218346753G>A	ClinVar
TGFB2	P61812	p.Ala18Thr	rs886045975	missense variant	-	NC_000001.11:g.218346753G>A	TOPMed
TGFB2	P61812	p.Ala18Val	rs757201195	missense variant	-	NC_000001.11:g.218346754C>T	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Leu19Phe	rs1305579825	missense variant	-	NC_000001.11:g.218346756C>T	gnomAD
TGFB2	P61812	p.Leu27Phe	rs1209272897	missense variant	-	NC_000001.11:g.218346780C>T	TOPMed
TGFB2	P61812	p.Asp28Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218346784A>G	NCI-TCGA
TGFB2	P61812	p.Asp30Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218346789G>A	NCI-TCGA
TGFB2	P61812	p.Phe32Leu	rs779872141	missense variant	-	NC_000001.11:g.218346795T>C	ExAC,gnomAD
TGFB2	P61812	p.Met33Ile	rs748995213	missense variant	-	NC_000001.11:g.218346800G>A	ExAC,gnomAD
TGFB2	P61812	p.Met33Arg	RCV000769553	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000001.11:g.218346799T>G	ClinVar
TGFB2	P61812	p.Arg34His	RCV000484113	missense variant	-	NC_000001.11:g.218346802G>A	ClinVar
TGFB2	P61812	p.Arg34His	rs1064796462	missense variant	-	NC_000001.11:g.218346802G>A	-
TGFB2	P61812	p.Ser46Asn	rs1318854254	missense variant	-	NC_000001.11:g.218346838G>A	TOPMed
TGFB2	P61812	p.Leu48Arg	RCV000786410	missense variant	-	NC_000001.11:g.218346844T>G	ClinVar
TGFB2	P61812	p.Leu48Arg	rs1553292088	missense variant	-	NC_000001.11:g.218346844T>G	-
TGFB2	P61812	p.Leu48Arg	RCV000620162	missense variant	-	NC_000001.11:g.218346844T>G	ClinVar
TGFB2	P61812	p.Ser52Gly	RCV000524041	missense variant	-	NC_000001.11:g.218346855A>G	ClinVar
TGFB2	P61812	p.Ser52Arg	rs1431335293	missense variant	-	NC_000001.11:g.218346857T>G	gnomAD
TGFB2	P61812	p.Ser52Thr	rs777159486	missense variant	-	NC_000001.11:g.218346856G>C	ExAC,gnomAD
TGFB2	P61812	p.Ser52Gly	rs771351240	missense variant	-	NC_000001.11:g.218346855A>G	ExAC,gnomAD
TGFB2	P61812	p.Pro53Leu	rs745960678	missense variant	-	NC_000001.11:g.218346859C>T	ExAC,gnomAD
TGFB2	P61812	p.Pro54Ter	RCV000493273	frameshift	-	NC_000001.11:g.218346857del	ClinVar
TGFB2	P61812	p.Glu55ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.218346857_218346858insC	NCI-TCGA
TGFB2	P61812	p.Pro58Ser	rs1359839189	missense variant	-	NC_000001.11:g.218346873C>T	gnomAD
TGFB2	P61812	p.Glu61Lys	rs763228811	missense variant	-	NC_000001.11:g.218346882G>A	ExAC,gnomAD
TGFB2	P61812	p.Val63Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218346889T>G	NCI-TCGA
TGFB2	P61812	p.Pro64Leu	rs1317014757	missense variant	-	NC_000001.11:g.218346892C>T	gnomAD
TGFB2	P61812	p.Pro64Ser	rs761602500	missense variant	-	NC_000001.11:g.218346891C>T	ExAC,gnomAD
TGFB2	P61812	p.Pro65Ser	RCV000546758	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218346894C>T	ClinVar
TGFB2	P61812	p.Pro65Leu	RCV000200048	missense variant	-	NC_000001.11:g.218346895C>T	ClinVar
TGFB2	P61812	p.Pro65Ser	rs747128130	missense variant	-	NC_000001.11:g.218346894C>T	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Pro65Leu	rs750324465	missense variant	-	NC_000001.11:g.218346895C>T	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Pro65Ala	rs747128130	missense variant	-	NC_000001.11:g.218346894C>G	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Pro65Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218346895C>A	NCI-TCGA
TGFB2	P61812	p.Pro65Leu	RCV000765072	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218346895C>T	ClinVar
TGFB2	P61812	p.Glu66Ala	rs1202024276	missense variant	-	NC_000001.11:g.218346898A>C	gnomAD
TGFB2	P61812	p.Val67Met	RCV000765073	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218346900G>A	ClinVar
TGFB2	P61812	p.Val67Met	rs201761868	missense variant	-	NC_000001.11:g.218346900G>A	ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Val67Met	RCV000249446	missense variant	-	NC_000001.11:g.218346900G>A	ClinVar
TGFB2	P61812	p.Val67Met	RCV000696533	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218346900G>A	ClinVar
TGFB2	P61812	p.Val67Met	RCV000200774	missense variant	-	NC_000001.11:g.218346900G>A	ClinVar
TGFB2	P61812	p.Ile70Thr	RCV000477625	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218346910T>C	ClinVar
TGFB2	P61812	p.Ile70Thr	rs1027195424	missense variant	-	NC_000001.11:g.218346910T>C	TOPMed,gnomAD
TGFB2	P61812	p.Tyr71Ter	RCV000428017	nonsense	-	NC_000001.11:g.218346914C>A	ClinVar
TGFB2	P61812	p.Tyr71Ter	rs766024374	stop gained	-	NC_000001.11:g.218346914C>A	ExAC
TGFB2	P61812	p.Ser73Gly	rs753391734	missense variant	-	NC_000001.11:g.218346918A>G	ExAC,gnomAD
TGFB2	P61812	p.Thr74Ser	rs1400029652	missense variant	-	NC_000001.11:g.218346921A>T	TOPMed
TGFB2	P61812	p.Arg75Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218346925G>T	NCI-TCGA
TGFB2	P61812	p.Leu77Ter	RCV000623776	frameshift	Inborn genetic diseases	NC_000001.11:g.218346930_218346946del	ClinVar
TGFB2	P61812	p.Gln79Arg	rs371241859	missense variant	-	NC_000001.11:g.218346937A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Gln79Arg	RCV000621812	missense variant	-	NC_000001.11:g.218346937A>G	ClinVar
TGFB2	P61812	p.Gln79Arg	RCV000196118	missense variant	-	NC_000001.11:g.218346937A>G	ClinVar
TGFB2	P61812	p.Gln79Arg	RCV000557999	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218346937A>G	ClinVar
TGFB2	P61812	p.Glu80Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.218346939G>T	NCI-TCGA
TGFB2	P61812	p.Lys81Arg	rs1358538309	missense variant	-	NC_000001.11:g.218346943A>G	gnomAD
TGFB2	P61812	p.Ala82Ser	rs1426532619	missense variant	-	NC_000001.11:g.218346945G>T	gnomAD
TGFB2	P61812	p.Ser83Arg	rs757596095	missense variant	-	NC_000001.11:g.218346950C>A	ExAC,gnomAD
TGFB2	P61812	p.Ser83Arg	rs757596095	missense variant	-	NC_000001.11:g.218346950C>G	ExAC,gnomAD
TGFB2	P61812	p.Arg84Leu	rs781392453	missense variant	-	NC_000001.11:g.218346952G>T	ExAC,gnomAD
TGFB2	P61812	p.Arg84Gln	rs781392453	missense variant	-	NC_000001.11:g.218346952G>A	ExAC,gnomAD
TGFB2	P61812	p.Arg85Ter	RCV000472775	frameshift	Holt-Oram syndrome (HOS)	NC_000001.11:g.218346953dup	ClinVar
TGFB2	P61812	p.Ala86Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218346958C>T	NCI-TCGA
TGFB2	P61812	p.Cys89Phe	rs775606572	missense variant	-	NC_000001.11:g.218346967G>T	ExAC,gnomAD
TGFB2	P61812	p.Cys89Arg	rs770283888	missense variant	-	NC_000001.11:g.218346966T>C	ExAC,gnomAD
TGFB2	P61812	p.Glu90Lys	rs749309877	missense variant	-	NC_000001.11:g.218346969G>A	ExAC,gnomAD
TGFB2	P61812	p.Arg91His	RCV000508622	missense variant	Hirschsprung disease 1 (HSCR1)	NC_000001.11:g.218346973G>A	ClinVar
TGFB2	P61812	p.Arg91His	rs10482721	missense variant	-	NC_000001.11:g.218346973G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Glu92Ala	rs774592518	missense variant	-	NC_000001.11:g.218346976A>C	ExAC,gnomAD
TGFB2	P61812	p.Arg93Thr	rs761533776	missense variant	-	NC_000001.11:g.218346979G>C	ExAC,gnomAD
TGFB2	P61812	p.Ser94Ter	RCV000622134	frameshift	-	NC_000001.11:g.218346981del	ClinVar
TGFB2	P61812	p.Asp95Glu	rs767393318	missense variant	-	NC_000001.11:g.218346986C>G	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Asp95Glu	rs767393318	missense variant	-	NC_000001.11:g.218346986C>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Tyr99Ter	RCV000210467	nonsense	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218346998C>A	ClinVar
TGFB2	P61812	p.Tyr99Ter	rs760759052	stop gained	-	NC_000001.11:g.218346998C>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Ala100Pro	rs959815933	missense variant	-	NC_000001.11:g.218346999G>C	TOPMed
TGFB2	P61812	p.Ala100Gly	rs992485773	missense variant	-	NC_000001.11:g.218347000C>G	TOPMed
TGFB2	P61812	p.Ala100_Tyr104del	VAR_068931	inframe_deletion	Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]	-	UniProt
TGFB2	P61812	p.Lys101Gln	rs766401610	missense variant	-	NC_000001.11:g.218347002A>C	ExAC,gnomAD
TGFB2	P61812	p.Glu102Gly	rs967581444	missense variant	-	NC_000001.11:g.218347006A>G	TOPMed,gnomAD
TGFB2	P61812	p.Glu102_Ser414del	VAR_080342	inframe_deletion	Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]	-	UniProt
TGFB2	P61812	p.Tyr104Cys	rs1403363066	missense variant	-	NC_000001.11:g.218347012A>G	gnomAD
TGFB2	P61812	p.Met108Leu	RCV000462439	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218347023A>T	ClinVar
TGFB2	P61812	p.Met108Leu	rs1060501982	missense variant	-	NC_000001.11:g.218347023A>T	-
TGFB2	P61812	p.Pro110His	rs1354740126	missense variant	-	NC_000001.11:g.218347030C>A	gnomAD
TGFB2	P61812	p.Phe111Val	rs757959311	missense variant	-	NC_000001.11:g.218347032T>G	ExAC,gnomAD
TGFB2	P61812	p.Phe111SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.218347028G>-	NCI-TCGA
TGFB2	P61812	p.Phe112Leu	rs370808888	missense variant	-	NC_000001.11:g.218347037C>G	ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Phe112Leu	rs1553292141	missense variant	-	NC_000001.11:g.218347035T>C	-
TGFB2	P61812	p.Phe112Leu	RCV000546519	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218347035T>C	ClinVar
TGFB2	P61812	p.Pro113Leu	RCV000444603	missense variant	-	NC_000001.11:g.218347039C>T	ClinVar
TGFB2	P61812	p.Pro113Leu	rs1057524627	missense variant	-	NC_000001.11:g.218347039C>T	TOPMed,gnomAD
TGFB2	P61812	p.Ser114Pro	rs1316319151	missense variant	-	NC_000001.11:g.218347041T>C	gnomAD
TGFB2	P61812	p.Ala117Val	rs146933799	missense variant	-	NC_000001.11:g.218405172C>T	1000Genomes
TGFB2	P61812	p.Pro119Leu	rs149533093	missense variant	-	NC_000001.11:g.218405178C>T	ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Pro119Ter	RCV000198360	frameshift	-	NC_000001.11:g.218405178del	ClinVar
TGFB2	P61812	p.Pro119Leu	RCV000769556	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000001.11:g.218405178C>T	ClinVar
TGFB2	P61812	p.Pro119Leu	RCV000415640	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218405178C>T	ClinVar
TGFB2	P61812	p.Pro119Leu	RCV000621239	missense variant	-	NC_000001.11:g.218405178C>T	ClinVar
TGFB2	P61812	p.Pro119Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218405177C>T	NCI-TCGA
TGFB2	P61812	p.Pro119Leu	RCV000583868	missense variant	Aortic aneurysm	NC_000001.11:g.218405178C>T	ClinVar
TGFB2	P61812	p.Thr121Ser	rs1300823855	missense variant	-	NC_000001.11:g.218405184C>G	TOPMed,gnomAD
TGFB2	P61812	p.Thr121Ser	RCV000520853	missense variant	-	NC_000001.11:g.218405184C>G	ClinVar
TGFB2	P61812	p.Thr121Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218405184C>T	NCI-TCGA
TGFB2	P61812	p.Thr121Ser	RCV000707281	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218405184C>G	ClinVar
TGFB2	P61812	p.Tyr123Cys	rs755563719	missense variant	-	NC_000001.11:g.218405190A>G	ExAC,gnomAD
TGFB2	P61812	p.Arg124Ter	RCV000208163	frameshift	Loeys-Dietz syndrome (LDS)	NC_000001.11:g.218405192dup	ClinVar
TGFB2	P61812	p.Arg124Lys	RCV000200239	missense variant	-	NC_000001.11:g.218405193G>A	ClinVar
TGFB2	P61812	p.Arg124Lys	rs863223789	missense variant	-	NC_000001.11:g.218405193G>A	TOPMed
TGFB2	P61812	p.Pro125Arg	rs779228043	missense variant	-	NC_000001.11:g.218405196C>G	ExAC,gnomAD
TGFB2	P61812	p.Ile129Thr	rs752823052	missense variant	-	NC_000001.11:g.218405208T>C	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Arg131Ter	RCV000634164	nonsense	Holt-Oram syndrome (HOS)	NC_000001.11:g.218405213C>T	ClinVar
TGFB2	P61812	p.Arg131Ter	rs869025531	stop gained	-	NC_000001.11:g.218405213C>T	-
TGFB2	P61812	p.Arg131Gln	rs758366080	missense variant	-	NC_000001.11:g.218405214G>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Phe132Ile	rs777980933	missense variant	-	NC_000001.11:g.218405216T>A	ExAC,gnomAD
TGFB2	P61812	p.Val134Ile	rs757551766	missense variant	-	NC_000001.11:g.218405222G>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Ala136Thr	rs1209069485	missense variant	-	NC_000001.11:g.218405228G>A	gnomAD
TGFB2	P61812	p.Met137Thr	rs1264824521	missense variant	-	NC_000001.11:g.218405232T>C	gnomAD
TGFB2	P61812	p.Met137Ile	rs967408802	missense variant	-	NC_000001.11:g.218405233G>A	TOPMed
TGFB2	P61812	p.Met137Thr	RCV000618744	missense variant	-	NC_000001.11:g.218405232T>C	ClinVar
TGFB2	P61812	p.Asn140Ter	RCV000414052	frameshift	-	NC_000001.11:g.218405241del	ClinVar
TGFB2	P61812	p.Asn143Ser	rs141548795	missense variant	-	NC_000001.11:g.218405250A>G	ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Leu144Phe	rs1362716412	missense variant	-	NC_000001.11:g.218405254G>C	gnomAD
TGFB2	P61812	p.Val145Met	rs1439580016	missense variant	-	NC_000001.11:g.218405255G>A	gnomAD
TGFB2	P61812	p.Glu148Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218405264G>C	NCI-TCGA
TGFB2	P61812	p.Phe149Val	RCV000534948	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218405267T>G	ClinVar
TGFB2	P61812	p.Phe149Val	rs896156575	missense variant	-	NC_000001.11:g.218405267T>G	-
TGFB2	P61812	p.Arg150Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218405271G>T	NCI-TCGA
TGFB2	P61812	p.Arg153Cys	COSM1229084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218405279C>T	NCI-TCGA Cosmic
TGFB2	P61812	p.Arg153His	RCV000414990	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218405280G>A	ClinVar
TGFB2	P61812	p.Arg153His	rs1057518684	missense variant	-	NC_000001.11:g.218405280G>A	TOPMed
TGFB2	P61812	p.Gln155Lys	rs1425658948	missense variant	-	NC_000001.11:g.218405285C>A	TOPMed,gnomAD
TGFB2	P61812	p.Gln155Pro	rs1293375727	missense variant	-	NC_000001.11:g.218405286A>C	gnomAD
TGFB2	P61812	p.Lys158Asn	RCV000617492	missense variant	-	NC_000001.11:g.218405296A>T	ClinVar
TGFB2	P61812	p.Lys158Glu	rs1445749036	missense variant	-	NC_000001.11:g.218405294A>G	gnomAD
TGFB2	P61812	p.Lys158Asn	rs775251473	missense variant	-	NC_000001.11:g.218405296A>T	ExAC,gnomAD
TGFB2	P61812	p.Arg160Thr	rs748852886	missense variant	-	NC_000001.11:g.218405301G>C	ExAC,gnomAD
TGFB2	P61812	p.Val161Gly	rs1160416926	missense variant	-	NC_000001.11:g.218405304T>G	TOPMed
TGFB2	P61812	p.Pro162Leu	rs768202434	missense variant	-	NC_000001.11:g.218405307C>T	ExAC,gnomAD
TGFB2	P61812	p.Arg165Trp	RCV000619100	missense variant	-	NC_000001.11:g.218405315C>T	ClinVar
TGFB2	P61812	p.Arg165Trp	RCV000467653	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218405315C>T	ClinVar
TGFB2	P61812	p.Arg165Trp	rs773820426	missense variant	-	NC_000001.11:g.218405315C>T	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Leu172Phe	rs1291056000	missense variant	-	NC_000001.11:g.218434085C>T	gnomAD
TGFB2	P61812	p.Leu172Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218434085C>A	NCI-TCGA
TGFB2	P61812	p.Lys173Thr	COSM4028310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218434089A>C	NCI-TCGA Cosmic
TGFB2	P61812	p.Lys173Arg	rs749692412	missense variant	-	NC_000001.11:g.218434089A>G	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Asp176Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218434097G>T	NCI-TCGA
TGFB2	P61812	p.Leu177Val	COSM3803920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218434100T>G	NCI-TCGA Cosmic
TGFB2	P61812	p.Leu177Ter	COSM265868	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.218434101T>G	NCI-TCGA Cosmic
TGFB2	P61812	p.Thr178Ile	rs774826853	missense variant	-	NC_000001.11:g.218434104C>T	ExAC,gnomAD
TGFB2	P61812	p.Ser179Cys	rs929597621	missense variant	-	NC_000001.11:g.218434107C>G	TOPMed,gnomAD
TGFB2	P61812	p.Ser179Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218434107C>T	NCI-TCGA
TGFB2	P61812	p.Thr181Ala	COSM1290118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218434112A>G	NCI-TCGA Cosmic
TGFB2	P61812	p.Thr181Ile	rs772616801	missense variant	-	NC_000001.11:g.218434113C>T	ExAC,gnomAD
TGFB2	P61812	p.Gln182Ter	RCV000157514	nonsense	Loeys-Dietz syndrome (LDS)	NC_000001.11:g.218434115C>T	ClinVar
TGFB2	P61812	p.Gln182Ter	rs730880221	stop gained	-	NC_000001.11:g.218434115C>T	-
TGFB2	P61812	p.Arg183His	RCV000619024	missense variant	-	NC_000001.11:g.218434119G>A	ClinVar
TGFB2	P61812	p.Arg183Cys	rs1436552875	missense variant	-	NC_000001.11:g.218434118C>T	TOPMed,gnomAD
TGFB2	P61812	p.Arg183His	rs773177511	missense variant	-	NC_000001.11:g.218434119G>A	ExAC,gnomAD
TGFB2	P61812	p.Arg183Cys	RCV000660311	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218434118C>T	ClinVar
TGFB2	P61812	p.Arg183His	RCV000817127	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218434119G>A	ClinVar
TGFB2	P61812	p.Ile185Val	RCV000696874	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218434124A>G	ClinVar
TGFB2	P61812	p.Asp186Gly	rs754008150	missense variant	-	NC_000001.11:g.218434128A>G	ExAC,gnomAD
TGFB2	P61812	p.Asp186Asn	rs766536496	missense variant	-	NC_000001.11:g.218434127G>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Ser187Gly	rs759729701	missense variant	-	NC_000001.11:g.218434130A>G	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Val189GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.218434137_218434140TTGT>-	NCI-TCGA
TGFB2	P61812	p.Arg193Ter	RCV000482233	frameshift	-	NC_000001.11:g.218434147_218434148del	ClinVar
TGFB2	P61812	p.Arg193Ter	RCV000617310	frameshift	-	NC_000001.11:g.218434147_218434148del	ClinVar
TGFB2	P61812	p.Arg193Thr	rs765086663	missense variant	-	NC_000001.11:g.218434149G>C	ExAC,gnomAD
TGFB2	P61812	p.Ala194Ser	rs1375258583	missense variant	-	NC_000001.11:g.218434151G>T	gnomAD
TGFB2	P61812	p.Ala194Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218434152C>A	NCI-TCGA
TGFB2	P61812	p.Glu195Val	COSM4930325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218434155A>T	NCI-TCGA Cosmic
TGFB2	P61812	p.Glu195Ter	rs863223790	stop gained	-	NC_000001.11:g.218434154G>T	-
TGFB2	P61812	p.Glu195Ter	RCV000634160	nonsense	Holt-Oram syndrome (HOS)	NC_000001.11:g.218434154G>T	ClinVar
TGFB2	P61812	p.Glu195Ter	RCV000199064	nonsense	-	NC_000001.11:g.218434154G>T	ClinVar
TGFB2	P61812	p.Glu197Lys	RCV000275080	missense variant	Loeys-Dietz syndrome (LDS)	NC_000001.11:g.218434160G>A	ClinVar
TGFB2	P61812	p.Glu197Lys	rs764028978	missense variant	-	NC_000001.11:g.218434160G>A	ExAC,gnomAD
TGFB2	P61812	p.Glu197AspIlePheTer	NCI-TCGA novel	stop gained	-	NC_000001.11:g.218434160_218434161insACATATTTT	NCI-TCGA
TGFB2	P61812	p.Glu197Lys	RCV000536008	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218434160G>A	ClinVar
TGFB2	P61812	p.Trp198Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.218434165G>A	NCI-TCGA
TGFB2	P61812	p.Ser200Phe	rs1015033324	missense variant	-	NC_000001.11:g.218434170C>T	TOPMed
TGFB2	P61812	p.Asp202Asn	rs1275341384	missense variant	-	NC_000001.11:g.218434175G>A	gnomAD
TGFB2	P61812	p.Asp205Val	COSM6061074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218434185A>T	NCI-TCGA Cosmic
TGFB2	P61812	p.Asp205His	rs796790344	missense variant	-	NC_000001.11:g.218434184G>C	gnomAD
TGFB2	P61812	p.Ala206Asp	COSM904013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218434188C>A	NCI-TCGA Cosmic
TGFB2	P61812	p.Val207Leu	RCV000415676	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218434190G>C	ClinVar
TGFB2	P61812	p.Val207Leu	rs10482810	missense variant	-	NC_000001.11:g.218434190G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Val207Ala	rs745557994	missense variant	-	NC_000001.11:g.218434191T>C	ExAC,gnomAD
TGFB2	P61812	p.His208Arg	COSM4028314	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218434194A>G	NCI-TCGA Cosmic
TGFB2	P61812	p.His208Gln	rs755821914	missense variant	-	NC_000001.11:g.218434195T>G	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.His208Tyr	rs916820522	missense variant	-	NC_000001.11:g.218434193C>T	TOPMed
TGFB2	P61812	p.Trp210Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218434201G>C	NCI-TCGA
TGFB2	P61812	p.Leu211Ile	rs779476673	missense variant	-	NC_000001.11:g.218434202C>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.His213Gln	rs773724269	missense variant	-	NC_000001.11:g.218434210T>A	ExAC,gnomAD
TGFB2	P61812	p.His213Gln	rs773724269	missense variant	-	NC_000001.11:g.218434210T>G	ExAC,gnomAD
TGFB2	P61812	p.His213Arg	rs772460840	missense variant	-	NC_000001.11:g.218434209A>G	ExAC,gnomAD
TGFB2	P61812	p.His213Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218434208C>A	NCI-TCGA
TGFB2	P61812	p.Asp215Glu	rs1342706944	missense variant	-	NC_000001.11:g.218434339C>G	TOPMed,gnomAD
TGFB2	P61812	p.Arg216Ter	RCV000195595	frameshift	-	NC_000001.11:g.218434338_218434339insT	ClinVar
TGFB2	P61812	p.Gly219Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218434350G>A	NCI-TCGA
TGFB2	P61812	p.Lys221Asn	RCV000195866	missense variant	-	NC_000001.11:g.218434357A>T	ClinVar
TGFB2	P61812	p.Lys221Asn	rs863223791	missense variant	-	NC_000001.11:g.218434357A>T	-
TGFB2	P61812	p.Ser223Asn	rs957164399	missense variant	-	NC_000001.11:g.218434362G>A	TOPMed,gnomAD
TGFB2	P61812	p.Ser223Ile	rs957164399	missense variant	-	NC_000001.11:g.218434362G>T	TOPMed,gnomAD
TGFB2	P61812	p.Leu224Val	RCV000389271	missense variant	Loeys-Dietz syndrome (LDS)	NC_000001.11:g.218434364T>G	ClinVar
TGFB2	P61812	p.Leu224Val	rs886045978	missense variant	-	NC_000001.11:g.218434364T>G	TOPMed
TGFB2	P61812	p.Pro227Ala	rs766148763	missense variant	-	NC_000001.11:g.218434373C>G	ExAC,gnomAD
TGFB2	P61812	p.Cys228Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.218434378C>A	NCI-TCGA
TGFB2	P61812	p.Cys229Phe	rs1185241582	missense variant	-	NC_000001.11:g.218434380G>T	TOPMed
TGFB2	P61812	p.Cys229Ter	rs398122885	stop gained	Loeys-dietz syndrome 4 (lds4)	NC_000001.11:g.218434381C>A	gnomAD
TGFB2	P61812	p.Cys229Ter	RCV000030735	nonsense	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218434381C>A	ClinVar
TGFB2	P61812	p.Cys229_Ser414del	VAR_080343	inframe_deletion	Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]	-	UniProt
TGFB2	P61812	p.Thr230Ala	rs1197477871	missense variant	-	NC_000001.11:g.218434382A>G	gnomAD
TGFB2	P61812	p.Pro233Ser	rs753572174	missense variant	-	NC_000001.11:g.218434391C>T	ExAC,gnomAD
TGFB2	P61812	p.Pro233Leu	rs1477299082	missense variant	-	NC_000001.11:g.218434392C>T	gnomAD
TGFB2	P61812	p.Asn235Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218434398A>C	NCI-TCGA
TGFB2	P61812	p.Ile239Phe	RCV000494411	missense variant	-	NC_000001.11:g.218434409A>T	ClinVar
TGFB2	P61812	p.Ile239Phe	rs1131691445	missense variant	-	NC_000001.11:g.218434409A>T	-
TGFB2	P61812	p.Lys242Asn	COSM4028316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218434420A>C	NCI-TCGA Cosmic
TGFB2	P61812	p.Glu247Lys	RCV000695724	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218434433G>A	ClinVar
TGFB2	P61812	p.Glu247Lys	RCV000826057	missense variant	-	NC_000001.11:g.218434433G>A	ClinVar
TGFB2	P61812	p.Ala248Val	rs751816387	missense variant	-	NC_000001.11:g.218434437C>T	ExAC,gnomAD
TGFB2	P61812	p.Ala248Thr	rs778265133	missense variant	-	NC_000001.11:g.218434436G>A	ExAC,gnomAD
TGFB2	P61812	p.Arg249Ile	rs781637645	missense variant	-	NC_000001.11:g.218434440G>T	ExAC,gnomAD
TGFB2	P61812	p.Ala251Ser	rs769911912	missense variant	-	NC_000001.11:g.218434445G>T	ExAC,gnomAD
TGFB2	P61812	p.Ala251Gly	rs1309844427	missense variant	-	NC_000001.11:g.218434446C>G	gnomAD
TGFB2	P61812	p.Ile253Thr	rs1322126863	missense variant	-	NC_000001.11:g.218435973T>C	gnomAD
TGFB2	P61812	p.IleAsp253IleTyr	rs1553303162	missense variant	-	NC_000001.11:g.218435974_218435975delinsAT	-
TGFB2	P61812	p.Asp254Tyr	RCV000634161	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218435974_218435975delinsAT	ClinVar
TGFB2	P61812	p.Gly255Asp	RCV000619487	missense variant	-	NC_000001.11:g.218435979G>A	ClinVar
TGFB2	P61812	p.Gly255Asp	rs781514831	missense variant	-	NC_000001.11:g.218435979G>A	ExAC,gnomAD
TGFB2	P61812	p.Ser257Phe	rs1263309543	missense variant	-	NC_000001.11:g.218435985C>T	gnomAD
TGFB2	P61812	p.Thr258Ile	RCV000688014	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218435988C>T	ClinVar
TGFB2	P61812	p.Thr258Ile	rs373352179	missense variant	-	NC_000001.11:g.218435988C>T	ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Thr258Ile	RCV000419049	missense variant	-	NC_000001.11:g.218435988C>T	ClinVar
TGFB2	P61812	p.Tyr259Asp	RCV000769560	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000001.11:g.218435990T>G	ClinVar
TGFB2	P61812	p.Tyr259Asp	rs1212341043	missense variant	-	NC_000001.11:g.218435990T>G	TOPMed
TGFB2	P61812	p.Ser261Asn	rs191509998	missense variant	-	NC_000001.11:g.218435997G>A	1000Genomes,ExAC,gnomAD
TGFB2	P61812	p.Asp263Glu	rs1256878861	missense variant	-	NC_000001.11:g.218436004T>G	gnomAD
TGFB2	P61812	p.Lys265Glu	RCV000246433	missense variant	-	NC_000001.11:g.218436008A>G	ClinVar
TGFB2	P61812	p.Lys265Glu	rs886038965	missense variant	-	NC_000001.11:g.218436008A>G	-
TGFB2	P61812	p.Thr266Asn	rs1356922676	missense variant	-	NC_000001.11:g.218436012C>A	TOPMed
TGFB2	P61812	p.Thr266Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218436011A>G	NCI-TCGA
TGFB2	P61812	p.Ile267Val	rs1300063075	missense variant	-	NC_000001.11:g.218436014A>G	gnomAD
TGFB2	P61812	p.Lys268Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218436019G>C	NCI-TCGA
TGFB2	P61812	p.Ser269Phe	COSM3360673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218436021C>T	NCI-TCGA Cosmic
TGFB2	P61812	p.Thr270Pro	rs749266746	missense variant	-	NC_000001.11:g.218436023A>C	ExAC,gnomAD
TGFB2	P61812	p.Thr270Ser	rs947761185	missense variant	-	NC_000001.11:g.218436024C>G	TOPMed,gnomAD
TGFB2	P61812	p.Thr270Ala	rs749266746	missense variant	-	NC_000001.11:g.218436023A>G	ExAC,gnomAD
TGFB2	P61812	p.Arg271Lys	rs370439281	missense variant	-	NC_000001.11:g.218436027G>A	ESP,TOPMed,gnomAD
TGFB2	P61812	p.Lys272Asn	rs1415933135	missense variant	-	NC_000001.11:g.218436031A>C	gnomAD
TGFB2	P61812	p.Lys272Glu	rs1187360350	missense variant	-	NC_000001.11:g.218436029A>G	gnomAD
TGFB2	P61812	p.Lys273Arg	rs747979194	missense variant	-	NC_000001.11:g.218436033A>G	ExAC,gnomAD
TGFB2	P61812	p.Lys273Glu	rs1467391590	missense variant	-	NC_000001.11:g.218436032A>G	TOPMed,gnomAD
TGFB2	P61812	p.Asn274LysPheSerTerUnkUnk	COSM4613307	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.218436028_218436029insA	NCI-TCGA Cosmic
TGFB2	P61812	p.Asn274ThrPheSerTerUnkUnk	COSM1180713	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.218436029A>-	NCI-TCGA Cosmic
TGFB2	P61812	p.Asn274Ter	RCV000197799	frameshift	-	NC_000001.11:g.218436036dup	ClinVar
TGFB2	P61812	p.Asn274Ser	rs559315266	missense variant	-	NC_000001.11:g.218436036A>G	1000Genomes,ExAC,gnomAD
TGFB2	P61812	p.Asn274Thr	rs559315266	missense variant	-	NC_000001.11:g.218436036A>C	1000Genomes,ExAC,gnomAD
TGFB2	P61812	p.Asn274Ter	RCV000507174	frameshift	-	NC_000001.11:g.218436036dup	ClinVar
TGFB2	P61812	p.Ser275Gly	RCV000542520	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218436038A>G	ClinVar
TGFB2	P61812	p.Ser275Gly	rs139825195	missense variant	-	NC_000001.11:g.218436038A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Gly276Arg	rs1169804851	missense variant	-	NC_000001.11:g.218436041G>A	TOPMed
TGFB2	P61812	p.Lys277Asn	rs1304484008	missense variant	-	NC_000001.11:g.218436046G>T	gnomAD
TGFB2	P61812	p.Thr278Ile	rs1395226344	missense variant	-	NC_000001.11:g.218436048C>T	TOPMed,gnomAD
TGFB2	P61812	p.Thr278Ala	rs760758897	missense variant	-	NC_000001.11:g.218436047A>G	ExAC,gnomAD
TGFB2	P61812	p.Leu281Phe	rs1310329224	missense variant	-	NC_000001.11:g.218436056C>T	gnomAD
TGFB2	P61812	p.Leu282Pro	RCV000686958	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218436060T>C	ClinVar
TGFB2	P61812	p.Tyr289Cys	rs1276969502	missense variant	-	NC_000001.11:g.218436081A>G	gnomAD
TGFB2	P61812	p.Arg290Ile	rs1373735073	missense variant	-	NC_000001.11:g.218436084G>T	gnomAD
TGFB2	P61812	p.Leu291Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218436087T>C	NCI-TCGA
TGFB2	P61812	p.Glu292Lys	rs1420202420	missense variant	-	NC_000001.11:g.218436089G>A	TOPMed
TGFB2	P61812	p.Ser293Leu	rs758931687	missense variant	-	NC_000001.11:g.218436093C>T	ExAC,gnomAD
TGFB2	P61812	p.Gln294Arg	rs1165937586	missense variant	-	NC_000001.11:g.218436096A>G	TOPMed
TGFB2	P61812	p.Arg298Ter	RCV000550583	frameshift	Holt-Oram syndrome (HOS)	NC_000001.11:g.218436107_218436116del	ClinVar
TGFB2	P61812	p.Arg298Trp	rs1200175663	missense variant	-	NC_000001.11:g.218436107C>T	TOPMed,gnomAD
TGFB2	P61812	p.Arg298Gln	rs762561484	missense variant	-	NC_000001.11:g.218436108G>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Arg298Gln	RCV000806655	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218436108G>A	ClinVar
TGFB2	P61812	p.Arg298Gln	RCV000198949	missense variant	-	NC_000001.11:g.218436108G>A	ClinVar
TGFB2	P61812	p.Arg299Leu	COSM6061072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218436111G>T	NCI-TCGA Cosmic
TGFB2	P61812	p.Arg299Gln	rs1057521150	missense variant	-	NC_000001.11:g.218436111G>A	-
TGFB2	P61812	p.Arg299Gln	RCV000660312	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218436111G>A	ClinVar
TGFB2	P61812	p.Arg299Trp	RCV000811636	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218436110C>T	ClinVar
TGFB2	P61812	p.Arg299Trp	rs863223792	missense variant	-	NC_000001.11:g.218436110C>T	-
TGFB2	P61812	p.Arg299Trp	RCV000210465	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218436110C>T	ClinVar
TGFB2	P61812	p.Lys300Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218436114A>C	NCI-TCGA
TGFB2	P61812	p.Arg302Cys	rs869312903	missense variant	-	NC_000001.11:g.218436119C>T	-
TGFB2	P61812	p.Arg302Ser	rs869312903	missense variant	-	NC_000001.11:g.218436119C>A	-
TGFB2	P61812	p.Arg302His	RCV000509486	missense variant	-	NC_000001.11:g.218436120G>A	ClinVar
TGFB2	P61812	p.Arg302His	rs1553303213	missense variant	-	NC_000001.11:g.218436120G>A	-
TGFB2	P61812	p.Arg302Cys	RCV000688826	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218436119C>T	ClinVar
TGFB2	P61812	p.Arg302Ser	RCV000229032	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218436119C>A	ClinVar
TGFB2	P61812	p.Arg302Cys	RCV000255040	missense variant	-	NC_000001.11:g.218436119C>T	ClinVar
TGFB2	P61812	p.Leu304Val	rs1478901182	missense variant	-	NC_000001.11:g.218436125T>G	gnomAD
TGFB2	P61812	p.Asp305Glu	RCV000526438	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218436130T>A	ClinVar
TGFB2	P61812	p.AspAlaAlaTyrCysPheArg305AspAlaAlaTyrCysPheArgCysGlyLeuLeuLeuTerUnk	rs1194682711	stop gained	-	NC_000001.11:g.218436147_218436148insATGCGGCCTATTGCTTTAG	gnomAD
TGFB2	P61812	p.Asp305Glu	rs1553303217	missense variant	-	NC_000001.11:g.218436130T>A	-
TGFB2	P61812	p.Ala306Val	rs989462091	missense variant	-	NC_000001.11:g.218436132C>T	TOPMed,gnomAD
TGFB2	P61812	p.Ala306Glu	rs989462091	missense variant	-	NC_000001.11:g.218436132C>A	TOPMed,gnomAD
TGFB2	P61812	p.Ala307Thr	rs1178400838	missense variant	-	NC_000001.11:g.218436134G>A	gnomAD
TGFB2	P61812	p.Tyr308Ser	rs750774144	missense variant	-	NC_000001.11:g.218436138A>C	ExAC,gnomAD
TGFB2	P61812	p.Arg311Lys	RCV000479243	missense variant	-	NC_000001.11:g.218436147G>A	ClinVar
TGFB2	P61812	p.Arg311Lys	rs1064793278	missense variant	-	NC_000001.11:g.218436147G>A	-
TGFB2	P61812	p.Arg311Ser	rs1241255536	missense variant	-	NC_000001.11:g.218437343A>C	gnomAD
TGFB2	P61812	p.Val313Leu	rs200149375	missense variant	-	NC_000001.11:g.218437347G>C	1000Genomes,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Val313Met	rs200149375	missense variant	-	NC_000001.11:g.218437347G>A	1000Genomes,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Asn316Ser	rs754350645	missense variant	-	NC_000001.11:g.218437357A>G	ExAC,gnomAD
TGFB2	P61812	p.Cys317Ser	rs1553303351	missense variant	-	NC_000001.11:g.218437360G>C	-
TGFB2	P61812	p.Cys317Ser	RCV000539015	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218437360G>C	ClinVar
TGFB2	P61812	p.Cys318Tyr	COSM6124212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218437363G>A	NCI-TCGA Cosmic
TGFB2	P61812	p.Cys318Phe	RCV000197949	missense variant	-	NC_000001.11:g.218437363G>T	ClinVar
TGFB2	P61812	p.Cys318Phe	rs863223793	missense variant	-	NC_000001.11:g.218437363G>T	-
TGFB2	P61812	p.Arg320Cys	RCV000585795	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218437368C>T	ClinVar
TGFB2	P61812	p.Arg320His	rs896426406	missense variant	-	NC_000001.11:g.218437369G>A	TOPMed,gnomAD
TGFB2	P61812	p.Arg320Cys	rs1553303352	missense variant	-	NC_000001.11:g.218437368C>T	UniProt,dbSNP
TGFB2	P61812	p.Arg320Cys	VAR_072740	missense variant	-	NC_000001.11:g.218437368C>T	UniProt
TGFB2	P61812	p.Arg320Cys	rs1553303352	missense variant	Loeys-dietz syndrome 4 (lds4)	NC_000001.11:g.218437368C>T	-
TGFB2	P61812	p.Pro321Thr	rs765295855	missense variant	-	NC_000001.11:g.218437371C>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Tyr323Cys	COSM6061070	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218437378A>G	NCI-TCGA Cosmic
TGFB2	P61812	p.Tyr323His	rs752807885	missense variant	-	NC_000001.11:g.218437377T>C	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Ile324Val	RCV000756773	missense variant	-	NC_000001.11:g.218437380A>G	ClinVar
TGFB2	P61812	p.Ile324Val	rs866788278	missense variant	-	NC_000001.11:g.218437380A>G	-
TGFB2	P61812	p.Lys327Asn	RCV000489022	missense variant	-	NC_000001.11:g.218437391G>T	ClinVar
TGFB2	P61812	p.Lys327Asn	rs1085307561	missense variant	-	NC_000001.11:g.218437391G>T	-
TGFB2	P61812	p.Arg328Lys	rs758704356	missense variant	-	NC_000001.11:g.218437393G>A	ExAC,gnomAD
TGFB2	P61812	p.Asp329His	rs1348984007	missense variant	-	NC_000001.11:g.218437395G>C	gnomAD
TGFB2	P61812	p.Gly331Arg	rs746826425	missense variant	-	NC_000001.11:g.218437401G>A	ExAC,gnomAD
TGFB2	P61812	p.Lys333Asn	rs1190246942	missense variant	-	NC_000001.11:g.218437409A>T	TOPMed
TGFB2	P61812	p.Trp334Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218437412G>T	NCI-TCGA
TGFB2	P61812	p.His336Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218437418C>G	NCI-TCGA
TGFB2	P61812	p.Glu337Gly	rs575279686	missense variant	-	NC_000001.11:g.218437420A>G	1000Genomes,ExAC,gnomAD
TGFB2	P61812	p.Pro338His	rs387907278	missense variant	Loeys-dietz syndrome 4 (lds4)	NC_000001.11:g.218437423C>A	-
TGFB2	P61812	p.Pro338His	rs387907278	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218437423C>A	UniProt,dbSNP
TGFB2	P61812	p.Pro338His	VAR_068934	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218437423C>A	UniProt
TGFB2	P61812	p.Pro338His	RCV000030732	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218437423C>A	ClinVar
TGFB2	P61812	p.Gly340Glu	rs745859904	missense variant	-	NC_000001.11:g.218437429G>A	ExAC,gnomAD
TGFB2	P61812	p.Gly340Arg	rs781013995	missense variant	-	NC_000001.11:g.218437428G>A	ExAC,gnomAD
TGFB2	P61812	p.Tyr341Ter	RCV000210478	frameshift	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218437432_218437436del	ClinVar
TGFB2	P61812	p.Tyr341Ter	rs1553303357	stop gained	-	NC_000001.11:g.218437433C>A	-
TGFB2	P61812	p.Tyr341Ter	RCV000618984	nonsense	-	NC_000001.11:g.218437433C>A	ClinVar
TGFB2	P61812	p.Asn342Ser	rs968289881	missense variant	-	NC_000001.11:g.218437435A>G	TOPMed
TGFB2	P61812	p.Ala343Thr	rs779554274	missense variant	-	NC_000001.11:g.218437437G>A	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Phe345Leu	rs748732392	missense variant	-	NC_000001.11:g.218437443T>C	ExAC,gnomAD
TGFB2	P61812	p.Phe345Leu	rs768326808	missense variant	-	NC_000001.11:g.218437445C>A	ExAC,TOPMed
TGFB2	P61812	p.Ala349Thr	rs1000597477	missense variant	-	NC_000001.11:g.218437455G>A	TOPMed
TGFB2	P61812	p.Cys350Tyr	RCV000697705	missense variant	Holt-Oram syndrome (HOS)	NC_000001.11:g.218437459G>A	ClinVar
TGFB2	P61812	p.Pro351Leu	rs773943154	missense variant	-	NC_000001.11:g.218437462C>T	ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Leu353Val	rs777045186	missense variant	-	NC_000001.11:g.218437467T>G	ExAC,gnomAD
TGFB2	P61812	p.Trp354Ter	RCV000699164	nonsense	Holt-Oram syndrome (HOS)	NC_000001.11:g.218437472G>A	ClinVar
TGFB2	P61812	p.Ser355Asn	rs1373261825	missense variant	-	NC_000001.11:g.218437474G>A	TOPMed
TGFB2	P61812	p.Ser356Ala	COSM1338914	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218437476T>G	NCI-TCGA Cosmic
TGFB2	P61812	p.Val363Leu	rs1423949415	missense variant	-	NC_000001.11:g.218441204G>C	gnomAD
TGFB2	P61812	p.Tyr367His	rs768202390	missense variant	-	NC_000001.11:g.218441216T>C	ExAC,gnomAD
TGFB2	P61812	p.Tyr367Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.218441218T>A	NCI-TCGA
TGFB2	P61812	p.Asn368Asp	rs1417916795	missense variant	-	NC_000001.11:g.218441219A>G	gnomAD
TGFB2	P61812	p.Thr369Ile	rs374045359	missense variant	-	NC_000001.11:g.218441223C>T	ESP
TGFB2	P61812	p.Ile370Arg	rs1335224039	missense variant	-	NC_000001.11:g.218441226T>G	gnomAD
TGFB2	P61812	p.Asn371Tyr	rs1375241926	missense variant	-	NC_000001.11:g.218441228A>T	gnomAD
TGFB2	P61812	p.Glu373Asp	rs577318480	missense variant	-	NC_000001.11:g.218441236A>C	1000Genomes,ExAC,gnomAD
TGFB2	P61812	p.Ala376Ser	rs201788738	missense variant	-	NC_000001.11:g.218441243G>T	TOPMed,gnomAD
TGFB2	P61812	p.Ala376Thr	rs201788738	missense variant	-	NC_000001.11:g.218441243G>A	TOPMed,gnomAD
TGFB2	P61812	p.Cys379Ser	COSM6061068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218441252T>A	NCI-TCGA Cosmic
TGFB2	P61812	p.Cys379Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.218441254C>A	NCI-TCGA
TGFB2	P61812	p.Cys380Phe	rs1553303745	missense variant	-	NC_000001.11:g.218441256G>T	-
TGFB2	P61812	p.Cys380Trp	RCV000441929	missense variant	-	NC_000001.11:g.218441257C>G	ClinVar
TGFB2	P61812	p.Cys380Phe	RCV000617436	missense variant	-	NC_000001.11:g.218441256G>T	ClinVar
TGFB2	P61812	p.Cys380Trp	rs201129153	missense variant	-	NC_000001.11:g.218441257C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TGFB2	P61812	p.Val381Met	rs376159002	missense variant	-	NC_000001.11:g.218441258G>A	ESP,ExAC,gnomAD
TGFB2	P61812	p.Val381Met	RCV000624548	missense variant	Inborn genetic diseases	NC_000001.11:g.218441258G>A	ClinVar
TGFB2	P61812	p.Val381Met	RCV000621154	missense variant	-	NC_000001.11:g.218441258G>A	ClinVar
TGFB2	P61812	p.Ser382Phe	rs1217563256	missense variant	-	NC_000001.11:g.218441262C>T	gnomAD
TGFB2	P61812	p.Gln383Arg	rs1411651558	missense variant	-	NC_000001.11:g.218441265A>G	TOPMed
TGFB2	P61812	p.Asp384Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218441267G>T	NCI-TCGA
TGFB2	P61812	p.Glu386Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.218441273G>T	NCI-TCGA
TGFB2	P61812	p.Pro387Arg	rs1167424381	missense variant	-	NC_000001.11:g.218441277C>G	TOPMed
TGFB2	P61812	p.Thr389Ile	rs776191174	missense variant	-	NC_000001.11:g.218441283C>T	ExAC,gnomAD
TGFB2	P61812	p.Leu391Val	COSM1320474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218441288C>G	NCI-TCGA Cosmic
TGFB2	P61812	p.Tyr392Cys	rs1218609815	missense variant	-	NC_000001.11:g.218441292A>G	gnomAD
TGFB2	P61812	p.Ile394Thr	RCV000380797	missense variant	Loeys-Dietz syndrome (LDS)	NC_000001.11:g.218441298T>C	ClinVar
TGFB2	P61812	p.Ile394Thr	rs886045980	missense variant	-	NC_000001.11:g.218441298T>C	TOPMed,gnomAD
TGFB2	P61812	p.Gly395Asp	rs1190307366	missense variant	-	NC_000001.11:g.218441301G>A	gnomAD
TGFB2	P61812	p.Gly395Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218441301G>T	NCI-TCGA
TGFB2	P61812	p.Lys396Gln	rs751650226	missense variant	-	NC_000001.11:g.218441303A>C	ExAC,gnomAD
TGFB2	P61812	p.Glu401Gln	COSM678488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218441318G>C	NCI-TCGA Cosmic
TGFB2	P61812	p.Leu403Val	rs1447245776	missense variant	-	NC_000001.11:g.218441324C>G	TOPMed
TGFB2	P61812	p.Leu403Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218441324C>A	NCI-TCGA
TGFB2	P61812	p.Met406Thr	COSM904021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.218441334T>C	NCI-TCGA Cosmic
TGFB2	P61812	p.Met406Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218441333A>G	NCI-TCGA
TGFB2	P61812	p.Ile407Val	rs1183873092	missense variant	-	NC_000001.11:g.218441336A>G	TOPMed
TGFB2	P61812	p.Lys409Arg	rs750218692	missense variant	-	NC_000001.11:g.218441343A>G	ExAC,gnomAD
TGFB2	P61812	p.Ser410Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.218441345T>A	NCI-TCGA
TGFB2	P61812	p.Cys411Ser	RCV000656710	missense variant	Loeys-Dietz syndrome 4 (LDS4)	NC_000001.11:g.218441349G>C	ClinVar
TGFB2	P61812	p.Cys411Ser	rs1553303761	missense variant	-	NC_000001.11:g.218441349G>C	-
TGFB2	P61812	p.Cys413Ser	rs869025532	missense variant	-	NC_000001.11:g.218441354T>A	-
TGFB2	P61812	p.Cys413Ser	RCV000208019	missense variant	Thoracic aortic aneurysm and aortic dissection (TAAD)	NC_000001.11:g.218441354T>A	ClinVar
DCAF7	P61962	p.Lys6Arg	rs768561024	missense variant	-	NC_000017.11:g.63550694A>G	ExAC,gnomAD
DCAF7	P61962	p.Pro16Leu	rs1479094740	missense variant	-	NC_000017.11:g.63550724C>T	gnomAD
DCAF7	P61962	p.Pro16Ser	rs772876029	missense variant	-	NC_000017.11:g.63550723C>T	ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Thr18Ala	rs1464847698	missense variant	-	NC_000017.11:g.63550729A>G	gnomAD
DCAF7	P61962	p.Thr18Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550729A>C	NCI-TCGA
DCAF7	P61962	p.Ala21Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550739C>T	NCI-TCGA
DCAF7	P61962	p.Asn23Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550744A>T	NCI-TCGA
DCAF7	P61962	p.Trp24Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550749G>C	NCI-TCGA
DCAF7	P61962	p.Trp24Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550748G>T	NCI-TCGA
DCAF7	P61962	p.Ser25Gly	rs199661608	missense variant	-	NC_000017.11:g.63550750A>G	ESP,ExAC,gnomAD
DCAF7	P61962	p.Arg27Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550756C>T	NCI-TCGA
DCAF7	P61962	p.Lys30Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550766A>G	NCI-TCGA
DCAF7	P61962	p.Lys30Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63550765A>T	NCI-TCGA
DCAF7	P61962	p.Lys30Asn	rs189209549	missense variant	-	NC_000017.11:g.63550767G>T	1000Genomes
DCAF7	P61962	p.Ala35Val	rs897241140	missense variant	-	NC_000017.11:g.63550781C>T	TOPMed
DCAF7	P61962	p.Ser38Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550789A>G	NCI-TCGA
DCAF7	P61962	p.Val40Met	rs767941373	missense variant	-	NC_000017.11:g.63550795G>A	ExAC,gnomAD
DCAF7	P61962	p.Tyr43Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550805A>G	NCI-TCGA
DCAF7	P61962	p.Asn45Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63550811A>G	NCI-TCGA
DCAF7	P61962	p.Val47Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63578471T>C	NCI-TCGA
DCAF7	P61962	p.Val50Ile	rs571745269	missense variant	-	NC_000017.11:g.63578479G>A	1000Genomes,ExAC,gnomAD
DCAF7	P61962	p.Asp53Gly	rs760995880	missense variant	-	NC_000017.11:g.63578489A>G	ExAC,gnomAD
DCAF7	P61962	p.Ser56Gly	rs1175281235	missense variant	-	NC_000017.11:g.63578497A>G	gnomAD
DCAF7	P61962	p.Glu58Gly	rs1454397308	missense variant	-	NC_000017.11:g.63578504A>G	TOPMed,gnomAD
DCAF7	P61962	p.Thr64Ser	rs992575433	missense variant	-	NC_000017.11:g.63578522C>G	TOPMed
DCAF7	P61962	p.Phe65Val	rs1290747077	missense variant	-	NC_000017.11:g.63578524T>G	gnomAD
DCAF7	P61962	p.His67Gln	rs754408924	missense variant	-	NC_000017.11:g.63578532C>G	ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Pro70Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63578539C>A	NCI-TCGA
DCAF7	P61962	p.Gly82Asp	rs1347783127	missense variant	-	NC_000017.11:g.63578576G>A	gnomAD
DCAF7	P61962	p.Val83Asp	rs950826751	missense variant	-	NC_000017.11:g.63578579T>A	TOPMed
DCAF7	P61962	p.Val83Ile	rs1301213649	missense variant	-	NC_000017.11:g.63578578G>A	gnomAD
DCAF7	P61962	p.Tyr84Cys	rs750400387	missense variant	-	NC_000017.11:g.63578582A>G	ExAC,gnomAD
DCAF7	P61962	p.Asp86Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63578587G>T	NCI-TCGA
DCAF7	P61962	p.Ala89Ser	rs1352316406	missense variant	-	NC_000017.11:g.63578596G>T	gnomAD
DCAF7	P61962	p.Thr90Ala	rs1267712031	missense variant	-	NC_000017.11:g.63578599A>G	TOPMed
DCAF7	P61962	p.Arg96His	rs909429261	missense variant	-	NC_000017.11:g.63578618G>A	TOPMed,gnomAD
DCAF7	P61962	p.Val100Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63579338T>C	NCI-TCGA
DCAF7	P61962	p.Gly101Val	rs1184243532	missense variant	-	NC_000017.11:g.63579341G>T	gnomAD
DCAF7	P61962	p.Thr105Asn	rs1213221378	missense variant	-	NC_000017.11:g.63579353C>A	TOPMed
DCAF7	P61962	p.Leu111Pro	rs1403862974	missense variant	-	NC_000017.11:g.63579371T>C	gnomAD
DCAF7	P61962	p.Asn114Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63579380A>G	NCI-TCGA
DCAF7	P61962	p.Trp128Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63579422G>T	NCI-TCGA
DCAF7	P61962	p.Trp128Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63579421T>C	NCI-TCGA
DCAF7	P61962	p.Pro133Ser	rs1452776427	missense variant	-	NC_000017.11:g.63579436C>T	gnomAD
DCAF7	P61962	p.Leu150TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63579858G>-	NCI-TCGA
DCAF7	P61962	p.Val155Met	rs778766031	missense variant	-	NC_000017.11:g.63579878G>A	ExAC,gnomAD
DCAF7	P61962	p.Leu156Ser	rs372129328	missense variant	-	NC_000017.11:g.63579882T>C	ESP,ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Arg158Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63579887C>T	NCI-TCGA
DCAF7	P61962	p.Val162Met	rs746481906	missense variant	-	NC_000017.11:g.63579899G>A	ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Gly164Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63579906G>A	NCI-TCGA
DCAF7	P61962	p.Lys175Arg	rs1348148386	missense variant	-	NC_000017.11:g.63579939A>G	TOPMed
DCAF7	P61962	p.Tyr178His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583505T>C	NCI-TCGA
DCAF7	P61962	p.Ala181Thr	rs1317199627	missense variant	-	NC_000017.11:g.63583514G>A	TOPMed
DCAF7	P61962	p.Arg184Gln	rs769425548	missense variant	-	NC_000017.11:g.63583524G>A	ExAC,gnomAD
DCAF7	P61962	p.Arg184Trp	rs1238032182	missense variant	-	NC_000017.11:g.63583523C>T	gnomAD
DCAF7	P61962	p.Gly186Arg	rs1359636592	missense variant	-	NC_000017.11:g.63583529G>A	gnomAD
DCAF7	P61962	p.Gly187Arg	rs1222461603	missense variant	-	NC_000017.11:g.63583532G>C	TOPMed
DCAF7	P61962	p.Met191Ile	rs1441268776	missense variant	-	NC_000017.11:g.63583546G>A	gnomAD
DCAF7	P61962	p.Val195Ala	rs771179636	missense variant	-	NC_000017.11:g.63583557T>C	ExAC,gnomAD
DCAF7	P61962	p.Ser200Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583572C>T	NCI-TCGA
DCAF7	P61962	p.Arg202Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583578G>A	NCI-TCGA
DCAF7	P61962	p.Arg202Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583578G>T	NCI-TCGA
DCAF7	P61962	p.Arg202Trp	rs373483895	missense variant	-	NC_000017.11:g.63583577C>T	ESP,ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Arg207Cys	rs1473585777	missense variant	-	NC_000017.11:g.63583592C>T	gnomAD
DCAF7	P61962	p.Arg207His	rs775653005	missense variant	-	NC_000017.11:g.63583593G>A	ExAC,gnomAD
DCAF7	P61962	p.Ile214Val	rs1333344740	missense variant	-	NC_000017.11:g.63583613A>G	gnomAD
DCAF7	P61962	p.Tyr216ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63583617_63583618TT>-	NCI-TCGA
DCAF7	P61962	p.Glu217Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583622G>A	NCI-TCGA
DCAF7	P61962	p.Pro219Ala	rs376094329	missense variant	-	NC_000017.11:g.63583628C>G	ESP,ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Arg226His	rs762853328	missense variant	-	NC_000017.11:g.63583650G>A	ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Arg226Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583649C>T	NCI-TCGA
DCAF7	P61962	p.Cys228Ter	rs1160993626	stop gained	-	NC_000017.11:g.63583657C>A	TOPMed
DCAF7	P61962	p.Trp229Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583660G>C	NCI-TCGA
DCAF7	P61962	p.Lys231Asn	rs1417103898	missense variant	-	NC_000017.11:g.63583666G>C	TOPMed
DCAF7	P61962	p.Pro234His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583674C>A	NCI-TCGA
DCAF7	P61962	p.Ala238Ser	rs754893586	missense variant	-	NC_000017.11:g.63583685G>T	ExAC,gnomAD
DCAF7	P61962	p.Ala238Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583686C>T	NCI-TCGA
DCAF7	P61962	p.Thr239Ile	rs1240338015	missense variant	-	NC_000017.11:g.63583689C>T	TOPMed,gnomAD
DCAF7	P61962	p.Ala241Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583695C>T	NCI-TCGA
DCAF7	P61962	p.Asp243Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583700G>A	NCI-TCGA
DCAF7	P61962	p.Glu246Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63583709G>A	NCI-TCGA
DCAF7	P61962	p.Asp251His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63585223G>C	NCI-TCGA
DCAF7	P61962	p.Val252Ile	rs925624922	missense variant	-	NC_000017.11:g.63585226G>A	TOPMed
DCAF7	P61962	p.Val259Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63585247G>A	NCI-TCGA
DCAF7	P61962	p.Ala260Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63585250G>A	NCI-TCGA
DCAF7	P61962	p.Asn264Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63585263A>G	NCI-TCGA
DCAF7	P61962	p.Arg266Ter	rs1479068747	stop gained	-	NC_000017.11:g.63585268C>T	TOPMed,gnomAD
DCAF7	P61962	p.Arg266Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63585269G>A	NCI-TCGA
DCAF7	P61962	p.Arg266Pro	rs1401522873	missense variant	-	NC_000017.11:g.63585269G>C	gnomAD
DCAF7	P61962	p.Cys268Arg	rs1425855323	missense variant	-	NC_000017.11:g.63585274T>C	gnomAD
DCAF7	P61962	p.Val269Ile	rs746192971	missense variant	-	NC_000017.11:g.63585277G>A	ExAC,gnomAD
DCAF7	P61962	p.Val269Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63585278T>C	NCI-TCGA
DCAF7	P61962	p.Asn270Ser	rs758995656	missense variant	-	NC_000017.11:g.63585281A>G	ExAC,gnomAD
DCAF7	P61962	p.Ser279Pro	rs78760999	missense variant	-	NC_000017.11:g.63585307T>C	ExAC,gnomAD
DCAF7	P61962	p.Ala286Val	rs1274925480	missense variant	-	NC_000017.11:g.63589000C>T	gnomAD
DCAF7	P61962	p.His289Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63589008C>T	NCI-TCGA
DCAF7	P61962	p.Gln290Arg	rs771961083	missense variant	-	NC_000017.11:g.63589012A>G	ExAC,gnomAD
DCAF7	P61962	p.Arg301Gly	rs1157190737	missense variant	-	NC_000017.11:g.63589044C>G	gnomAD
DCAF7	P61962	p.Arg301Gln	rs768436828	missense variant	-	NC_000017.11:g.63589045G>A	ExAC,gnomAD
DCAF7	P61962	p.Thr311Ala	rs761458805	missense variant	-	NC_000017.11:g.63589074A>G	ExAC,gnomAD
DCAF7	P61962	p.Thr311Ser	rs761458805	missense variant	-	NC_000017.11:g.63589074A>T	ExAC,gnomAD
DCAF7	P61962	p.Asn317Ser	rs764808179	missense variant	-	NC_000017.11:g.63589093A>G	ExAC,gnomAD
DCAF7	P61962	p.Ala330Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63589131G>A	NCI-TCGA
DCAF7	P61962	p.Ile331Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63589136C>G	NCI-TCGA
DCAF7	P61962	p.Cys332Phe	rs1459054523	missense variant	-	NC_000017.11:g.63589138G>T	gnomAD
DCAF7	P61962	p.Cys336Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63589150G>T	NCI-TCGA
DCAF7	P61962	p.Leu337Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63589153T>C	NCI-TCGA
DCAF7	P61962	p.Lys6Arg	rs768561024	missense variant	-	NC_000017.11:g.63550694A>G	ExAC,gnomAD
DCAF7	P61962	p.Pro16Leu	rs1479094740	missense variant	-	NC_000017.11:g.63550724C>T	gnomAD
DCAF7	P61962	p.Pro16Ser	rs772876029	missense variant	-	NC_000017.11:g.63550723C>T	ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Thr18Ala	rs1464847698	missense variant	-	NC_000017.11:g.63550729A>G	gnomAD
DCAF7	P61962	p.Ser25Gly	rs199661608	missense variant	-	NC_000017.11:g.63550750A>G	ESP,ExAC,gnomAD
DCAF7	P61962	p.Lys30Asn	rs189209549	missense variant	-	NC_000017.11:g.63550767G>T	1000Genomes
DCAF7	P61962	p.Ala35Val	rs897241140	missense variant	-	NC_000017.11:g.63550781C>T	TOPMed
DCAF7	P61962	p.Val40Met	rs767941373	missense variant	-	NC_000017.11:g.63550795G>A	ExAC,gnomAD
DCAF7	P61962	p.Val50Ile	rs571745269	missense variant	-	NC_000017.11:g.63578479G>A	1000Genomes,ExAC,gnomAD
DCAF7	P61962	p.Asp53Gly	rs760995880	missense variant	-	NC_000017.11:g.63578489A>G	ExAC,gnomAD
DCAF7	P61962	p.Ser56Gly	rs1175281235	missense variant	-	NC_000017.11:g.63578497A>G	gnomAD
DCAF7	P61962	p.Glu58Gly	rs1454397308	missense variant	-	NC_000017.11:g.63578504A>G	TOPMed,gnomAD
DCAF7	P61962	p.Thr64Ser	rs992575433	missense variant	-	NC_000017.11:g.63578522C>G	TOPMed
DCAF7	P61962	p.Phe65Val	rs1290747077	missense variant	-	NC_000017.11:g.63578524T>G	gnomAD
DCAF7	P61962	p.His67Gln	rs754408924	missense variant	-	NC_000017.11:g.63578532C>G	ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Gly82Asp	rs1347783127	missense variant	-	NC_000017.11:g.63578576G>A	gnomAD
DCAF7	P61962	p.Val83Asp	rs950826751	missense variant	-	NC_000017.11:g.63578579T>A	TOPMed
DCAF7	P61962	p.Val83Ile	rs1301213649	missense variant	-	NC_000017.11:g.63578578G>A	gnomAD
DCAF7	P61962	p.Tyr84Cys	rs750400387	missense variant	-	NC_000017.11:g.63578582A>G	ExAC,gnomAD
DCAF7	P61962	p.Ala89Ser	rs1352316406	missense variant	-	NC_000017.11:g.63578596G>T	gnomAD
DCAF7	P61962	p.Thr90Ala	rs1267712031	missense variant	-	NC_000017.11:g.63578599A>G	TOPMed
DCAF7	P61962	p.Arg96His	rs909429261	missense variant	-	NC_000017.11:g.63578618G>A	TOPMed,gnomAD
DCAF7	P61962	p.Gly101Val	rs1184243532	missense variant	-	NC_000017.11:g.63579341G>T	gnomAD
DCAF7	P61962	p.Thr105Asn	rs1213221378	missense variant	-	NC_000017.11:g.63579353C>A	TOPMed
DCAF7	P61962	p.Leu111Pro	rs1403862974	missense variant	-	NC_000017.11:g.63579371T>C	gnomAD
DCAF7	P61962	p.Pro133Ser	rs1452776427	missense variant	-	NC_000017.11:g.63579436C>T	gnomAD
DCAF7	P61962	p.Val155Met	rs778766031	missense variant	-	NC_000017.11:g.63579878G>A	ExAC,gnomAD
DCAF7	P61962	p.Leu156Ser	rs372129328	missense variant	-	NC_000017.11:g.63579882T>C	ESP,ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Val162Met	rs746481906	missense variant	-	NC_000017.11:g.63579899G>A	ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Lys175Arg	rs1348148386	missense variant	-	NC_000017.11:g.63579939A>G	TOPMed
DCAF7	P61962	p.Ala181Thr	rs1317199627	missense variant	-	NC_000017.11:g.63583514G>A	TOPMed
DCAF7	P61962	p.Arg184Trp	rs1238032182	missense variant	-	NC_000017.11:g.63583523C>T	gnomAD
DCAF7	P61962	p.Arg184Gln	rs769425548	missense variant	-	NC_000017.11:g.63583524G>A	ExAC,gnomAD
DCAF7	P61962	p.Gly186Arg	rs1359636592	missense variant	-	NC_000017.11:g.63583529G>A	gnomAD
DCAF7	P61962	p.Gly187Arg	rs1222461603	missense variant	-	NC_000017.11:g.63583532G>C	TOPMed
DCAF7	P61962	p.Met191Ile	rs1441268776	missense variant	-	NC_000017.11:g.63583546G>A	gnomAD
DCAF7	P61962	p.Val195Ala	rs771179636	missense variant	-	NC_000017.11:g.63583557T>C	ExAC,gnomAD
DCAF7	P61962	p.Arg202Trp	rs373483895	missense variant	-	NC_000017.11:g.63583577C>T	ESP,ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Arg207Cys	rs1473585777	missense variant	-	NC_000017.11:g.63583592C>T	gnomAD
DCAF7	P61962	p.Arg207His	rs775653005	missense variant	-	NC_000017.11:g.63583593G>A	ExAC,gnomAD
DCAF7	P61962	p.Ile214Val	rs1333344740	missense variant	-	NC_000017.11:g.63583613A>G	gnomAD
DCAF7	P61962	p.Pro219Ala	rs376094329	missense variant	-	NC_000017.11:g.63583628C>G	ESP,ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Arg226His	rs762853328	missense variant	-	NC_000017.11:g.63583650G>A	ExAC,TOPMed,gnomAD
DCAF7	P61962	p.Cys228Ter	rs1160993626	stop gained	-	NC_000017.11:g.63583657C>A	TOPMed
DCAF7	P61962	p.Lys231Asn	rs1417103898	missense variant	-	NC_000017.11:g.63583666G>C	TOPMed
DCAF7	P61962	p.Ala238Ser	rs754893586	missense variant	-	NC_000017.11:g.63583685G>T	ExAC,gnomAD
DCAF7	P61962	p.Thr239Ile	rs1240338015	missense variant	-	NC_000017.11:g.63583689C>T	TOPMed,gnomAD
DCAF7	P61962	p.Val252Ile	rs925624922	missense variant	-	NC_000017.11:g.63585226G>A	TOPMed
DCAF7	P61962	p.Arg266Ter	rs1479068747	stop gained	-	NC_000017.11:g.63585268C>T	TOPMed,gnomAD
DCAF7	P61962	p.Arg266Pro	rs1401522873	missense variant	-	NC_000017.11:g.63585269G>C	gnomAD
DCAF7	P61962	p.Cys268Arg	rs1425855323	missense variant	-	NC_000017.11:g.63585274T>C	gnomAD
DCAF7	P61962	p.Val269Ile	rs746192971	missense variant	-	NC_000017.11:g.63585277G>A	ExAC,gnomAD
DCAF7	P61962	p.Asn270Ser	rs758995656	missense variant	-	NC_000017.11:g.63585281A>G	ExAC,gnomAD
DCAF7	P61962	p.Ser279Pro	rs78760999	missense variant	-	NC_000017.11:g.63585307T>C	ExAC,gnomAD
DCAF7	P61962	p.Ala286Val	rs1274925480	missense variant	-	NC_000017.11:g.63589000C>T	gnomAD
DCAF7	P61962	p.Gln290Arg	rs771961083	missense variant	-	NC_000017.11:g.63589012A>G	ExAC,gnomAD
DCAF7	P61962	p.Arg301Gln	rs768436828	missense variant	-	NC_000017.11:g.63589045G>A	ExAC,gnomAD
DCAF7	P61962	p.Arg301Gly	rs1157190737	missense variant	-	NC_000017.11:g.63589044C>G	gnomAD
DCAF7	P61962	p.Thr311Ser	rs761458805	missense variant	-	NC_000017.11:g.63589074A>T	ExAC,gnomAD
DCAF7	P61962	p.Thr311Ala	rs761458805	missense variant	-	NC_000017.11:g.63589074A>G	ExAC,gnomAD
DCAF7	P61962	p.Asn317Ser	rs764808179	missense variant	-	NC_000017.11:g.63589093A>G	ExAC,gnomAD
DCAF7	P61962	p.Cys332Phe	rs1459054523	missense variant	-	NC_000017.11:g.63589138G>T	gnomAD
ESRRG	P62508	p.Asp2Gly	rs1453652160	missense variant	-	NC_000001.11:g.216723295T>C	gnomAD
ESRRG	P62508	p.Ser3Leu	rs1260342254	missense variant	-	NC_000001.11:g.216723292G>A	TOPMed,gnomAD
ESRRG	P62508	p.Val4Leu	rs1381782847	missense variant	-	NC_000001.11:g.216723290C>A	TOPMed
ESRRG	P62508	p.Glu5Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216723287C>T	NCI-TCGA
ESRRG	P62508	p.Leu6Phe	rs753168939	missense variant	-	NC_000001.11:g.216723284G>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Leu6Val	rs753168939	missense variant	-	NC_000001.11:g.216723284G>C	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Pro9His	rs779481832	missense variant	-	NC_000001.11:g.216723274G>T	TOPMed,gnomAD
ESRRG	P62508	p.Phe12Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216723264A>C	NCI-TCGA
ESRRG	P62508	p.Phe12Leu	rs1268215854	missense variant	-	NC_000001.11:g.216723264A>T	gnomAD
ESRRG	P62508	p.Ser13Pro	rs765802592	missense variant	-	NC_000001.11:g.216723263A>G	ExAC,gnomAD
ESRRG	P62508	p.Leu14Gln	rs1282220595	missense variant	-	NC_000001.11:g.216723259A>T	TOPMed,gnomAD
ESRRG	P62508	p.Leu14Pro	rs1282220595	missense variant	-	NC_000001.11:g.216723259A>G	TOPMed,gnomAD
ESRRG	P62508	p.His15Tyr	rs771206130	missense variant	-	NC_000001.11:g.216723257G>A	ExAC,gnomAD
ESRRG	P62508	p.His15Asn	rs771206130	missense variant	-	NC_000001.11:g.216723257G>T	ExAC,gnomAD
ESRRG	P62508	p.Tyr16Ter	rs761486279	stop gained	-	NC_000001.11:g.216723252G>T	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Glu17Lys	rs573749790	missense variant	-	NC_000001.11:g.216723251C>T	1000Genomes,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Glu17Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.216723251C>A	NCI-TCGA
ESRRG	P62508	p.Glu17Gln	rs573749790	missense variant	-	NC_000001.11:g.216723251C>G	1000Genomes,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Glu18Lys	rs972031090	missense variant	-	NC_000001.11:g.216723248C>T	TOPMed
ESRRG	P62508	p.Glu18Gln	rs972031090	missense variant	-	NC_000001.11:g.216723248C>G	TOPMed
ESRRG	P62508	p.Glu19Gly	COSM290649	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216723244T>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Glu19Gln	COSM425326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216723245C>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Glu19Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216723245C>T	NCI-TCGA
ESRRG	P62508	p.Cys22Tyr	rs1331544359	missense variant	-	NC_000001.11:g.216677483C>T	gnomAD
ESRRG	P62508	p.Met24Val	rs1281591694	missense variant	-	NC_000001.11:g.216677478T>C	gnomAD
ESRRG	P62508	p.Met24Ile	rs1386623374	missense variant	-	NC_000001.11:g.216677476C>A	gnomAD
ESRRG	P62508	p.Ser25Pro	rs779156008	missense variant	-	NC_000001.11:g.216677475A>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Asn26Asp	rs768751167	missense variant	-	NC_000001.11:g.216677472T>C	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Asn26Lys	rs749396484	missense variant	-	NC_000001.11:g.216677470G>T	ExAC,gnomAD
ESRRG	P62508	p.Lys27Arg	rs780194226	missense variant	-	NC_000001.11:g.216677468T>C	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Asp28Asn	COSM5280065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677466C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Asp28Gly	rs1360236618	missense variant	-	NC_000001.11:g.216677465T>C	TOPMed
ESRRG	P62508	p.Arg29Gln	rs756510778	missense variant	-	NC_000001.11:g.216677462C>T	ExAC,gnomAD
ESRRG	P62508	p.Arg29Ter	COSM5845495	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216677463G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Ile31Val	rs750997414	missense variant	-	NC_000001.11:g.216677457T>C	ExAC,gnomAD
ESRRG	P62508	p.Ile31Thr	rs781648588	missense variant	-	NC_000001.11:g.216677456A>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Asp32Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677454C>T	NCI-TCGA
ESRRG	P62508	p.Ser33Phe	COSM4401510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677450G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Ser34ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.216677449_216677450insTT	NCI-TCGA
ESRRG	P62508	p.Cys35Tyr	rs1425611774	missense variant	-	NC_000001.11:g.216677444C>T	TOPMed,gnomAD
ESRRG	P62508	p.Cys35Ser	rs1425611774	missense variant	-	NC_000001.11:g.216677444C>G	TOPMed,gnomAD
ESRRG	P62508	p.Ser36Pro	COSM414627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677442A>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Ser36Leu	rs149827805	missense variant	-	NC_000001.11:g.216677441G>A	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ser37Phe	rs764861816	missense variant	-	NC_000001.11:g.216677438G>A	ExAC,gnomAD
ESRRG	P62508	p.Ser37Thr	rs1247313691	missense variant	-	NC_000001.11:g.216677439A>T	gnomAD
ESRRG	P62508	p.Ile39Val	rs759070220	missense variant	-	NC_000001.11:g.216677433T>C	ExAC,gnomAD
ESRRG	P62508	p.Lys40Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677428C>G	NCI-TCGA
ESRRG	P62508	p.Thr41Met	rs753231523	missense variant	-	NC_000001.11:g.216677426G>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Glu42Gln	COSM4858919	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677424C>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Pro43Ser	rs773155899	missense variant	-	NC_000001.11:g.216677421G>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Pro43Ala	rs773155899	missense variant	-	NC_000001.11:g.216677421G>C	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Pro43Thr	rs773155899	missense variant	-	NC_000001.11:g.216677421G>T	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Pro43Leu	rs771833321	missense variant	-	NC_000001.11:g.216677420G>A	ExAC,gnomAD
ESRRG	P62508	p.Pro46Thr	COSM425325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677412G>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Ala47Val	rs375119868	missense variant	-	NC_000001.11:g.216677408G>A	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ala47Ser	COSM6124225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677409C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Ser48Phe	rs1435255843	missense variant	-	NC_000001.11:g.216677405G>A	gnomAD
ESRRG	P62508	p.Thr50Ser	rs1030492080	missense variant	-	NC_000001.11:g.216677400T>A	TOPMed,gnomAD
ESRRG	P62508	p.Thr50Met	rs11572693	missense variant	-	NC_000001.11:g.216677399G>A	UniProt,dbSNP
ESRRG	P62508	p.Thr50Met	VAR_019229	missense variant	-	NC_000001.11:g.216677399G>A	UniProt
ESRRG	P62508	p.Thr50Met	rs11572693	missense variant	-	NC_000001.11:g.216677399G>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ser52Ile	rs1343867107	missense variant	-	NC_000001.11:g.216677393C>A	TOPMed
ESRRG	P62508	p.Ser52Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677393C>T	NCI-TCGA
ESRRG	P62508	p.Val53Ile	rs199995809	missense variant	-	NC_000001.11:g.216677391C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ser57Arg	NCI-TCGA novel	insertion	-	NC_000001.11:g.216677375_216677376insGGC	NCI-TCGA
ESRRG	P62508	p.Gly60Asp	rs1451183108	missense variant	-	NC_000001.11:g.216677369C>T	gnomAD
ESRRG	P62508	p.Gly60Cys	rs1189135819	missense variant	-	NC_000001.11:g.216677370C>A	gnomAD
ESRRG	P62508	p.Ser61Tyr	rs1043414431	missense variant	-	NC_000001.11:g.216677366G>T	gnomAD
ESRRG	P62508	p.Ser61Phe	rs1043414431	missense variant	-	NC_000001.11:g.216677366G>A	gnomAD
ESRRG	P62508	p.Asp63Asn	rs1281353824	missense variant	-	NC_000001.11:g.216677361C>T	TOPMed
ESRRG	P62508	p.Ala64Thr	rs141125727	missense variant	-	NC_000001.11:g.216677358C>T	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Gly66Val	COSM4860276	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677351C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Gly66Arg	COSM4920737	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677352C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Ser69Gly	rs1231258999	missense variant	-	NC_000001.11:g.216677343T>C	gnomAD
ESRRG	P62508	p.Thr71Ala	rs1381146333	missense variant	-	NC_000001.11:g.216677337T>C	gnomAD
ESRRG	P62508	p.Thr71Ile	rs1204090774	missense variant	-	NC_000001.11:g.216677336G>A	TOPMed
ESRRG	P62508	p.Met72Thr	COSM4875258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677333A>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Gly74Val	rs753562164	missense variant	-	NC_000001.11:g.216677327C>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Gly74Asp	rs753562164	missense variant	-	NC_000001.11:g.216677327C>T	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.His75Gln	rs765761272	missense variant	-	NC_000001.11:g.216677323A>T	ExAC,gnomAD
ESRRG	P62508	p.Asn77Lys	rs760228315	missense variant	-	NC_000001.11:g.216677317G>T	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Gly78Arg	rs750331242	missense variant	-	NC_000001.11:g.216677316C>T	ExAC,gnomAD
ESRRG	P62508	p.Gly78Ter	COSM4028275	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216677316C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Gly78Glu	COSM3483720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677315C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Leu79Phe	rs1363931948	missense variant	-	NC_000001.11:g.216677313G>A	TOPMed
ESRRG	P62508	p.Leu79Arg	COSM4028273	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677312A>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Asp80Gly	rs1469175816	missense variant	-	NC_000001.11:g.216677309T>C	TOPMed
ESRRG	P62508	p.Ser81Leu	rs761583933	missense variant	-	NC_000001.11:g.216677306G>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Pro82Leu	COSM1338894	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677303G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Pro83Ser	rs1405723810	missense variant	-	NC_000001.11:g.216677301G>A	TOPMed
ESRRG	P62508	p.Pro83Leu	COSM4028271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677300G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Leu84Val	rs1366606146	missense variant	-	NC_000001.11:g.216677298G>C	TOPMed,gnomAD
ESRRG	P62508	p.Pro89Ser	rs1424450808	missense variant	-	NC_000001.11:g.216677283G>A	gnomAD
ESRRG	P62508	p.Pro89Leu	COSM3483718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677282G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Ile90Val	rs775830011	missense variant	-	NC_000001.11:g.216677280T>C	ExAC,gnomAD
ESRRG	P62508	p.Gly92Ala	rs1044865582	missense variant	-	NC_000001.11:g.216677273C>G	TOPMed
ESRRG	P62508	p.Gly92Glu	rs1044865582	missense variant	-	NC_000001.11:g.216677273C>T	TOPMed
ESRRG	P62508	p.Gly92Arg	COSM4862815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677274C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Gly92GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.216677273C>-	NCI-TCGA
ESRRG	P62508	p.Gly93Cys	COSM4860941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677271C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Ser94Gly	rs769959488	missense variant	-	NC_000001.11:g.216677268T>C	ExAC,gnomAD
ESRRG	P62508	p.Ser94Asn	COSM3483714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677267C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Gly95Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677265C>A	NCI-TCGA
ESRRG	P62508	p.Gly95Glu	rs746008005	missense variant	-	NC_000001.11:g.216677264C>T	ExAC,gnomAD
ESRRG	P62508	p.Pro96Thr	rs948860619	missense variant	-	NC_000001.11:g.216677262G>T	TOPMed,gnomAD
ESRRG	P62508	p.Arg98Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677255C>T	NCI-TCGA
ESRRG	P62508	p.Tyr101Ter	rs777963595	stop gained	-	NC_000001.11:g.216677245A>C	ExAC,gnomAD
ESRRG	P62508	p.Asp102Gly	rs201364177	missense variant	-	NC_000001.11:g.216677243T>C	1000Genomes
ESRRG	P62508	p.Asp102Asn	rs1321791080	missense variant	-	NC_000001.11:g.216677244C>T	gnomAD
ESRRG	P62508	p.Asp103Asn	COSM1958554	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677241C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Ser105Thr	rs1407629514	missense variant	-	NC_000001.11:g.216677235A>T	gnomAD
ESRRG	P62508	p.Ser105Tyr	rs758817078	missense variant	-	NC_000001.11:g.216677234G>T	ExAC,gnomAD
ESRRG	P62508	p.Ser106Gly	COSM4028269	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677232T>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Ser106Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677231C>T	NCI-TCGA
ESRRG	P62508	p.Thr107Asn	rs1308442598	missense variant	-	NC_000001.11:g.216677228G>T	gnomAD
ESRRG	P62508	p.Ile108Thr	rs748870142	missense variant	-	NC_000001.11:g.216677225A>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Glu110Gly	rs1321135889	missense variant	-	NC_000001.11:g.216677219T>C	TOPMed
ESRRG	P62508	p.Glu110IleCysLeuCysProPheLysLeuValIleTyr	NCI-TCGA novel	insertion	-	NC_000001.11:g.216677217_216677218insGTAGATTACCAGTTTAAAAGGGCATAAACAAAT	NCI-TCGA
ESRRG	P62508	p.Glu110Lys	rs779796920	missense variant	-	NC_000001.11:g.216677220C>T	ExAC,gnomAD
ESRRG	P62508	p.Pro112Leu	rs1162572337	missense variant	-	NC_000001.11:g.216677213G>A	gnomAD
ESRRG	P62508	p.Pro112Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677214G>C	NCI-TCGA
ESRRG	P62508	p.Pro112Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677214G>A	NCI-TCGA
ESRRG	P62508	p.Gln113Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.216677211G>A	NCI-TCGA
ESRRG	P62508	p.Gln113Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677210T>A	NCI-TCGA
ESRRG	P62508	p.Thr114Pro	rs909475660	missense variant	-	NC_000001.11:g.216677208T>G	TOPMed
ESRRG	P62508	p.Lys115Asn	rs755617893	missense variant	-	NC_000001.11:g.216677203C>G	ExAC,gnomAD
ESRRG	P62508	p.Met119Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677191C>T	NCI-TCGA
ESRRG	P62508	p.Asn121Thr	COSM1251517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677186T>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Asn121Ser	rs749995633	missense variant	-	NC_000001.11:g.216677186T>C	ExAC,gnomAD
ESRRG	P62508	p.Ser122Leu	rs984154691	missense variant	-	NC_000001.11:g.216677183G>A	TOPMed,gnomAD
ESRRG	P62508	p.Ser122Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.216677183G>T	NCI-TCGA
ESRRG	P62508	p.Met123Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677179C>T	NCI-TCGA
ESRRG	P62508	p.Lys125Arg	rs751537343	missense variant	-	NC_000001.11:g.216677174T>C	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Leu127Pro	rs1359013418	missense variant	-	NC_000001.11:g.216677168A>G	gnomAD
ESRRG	P62508	p.Leu127Val	rs1210966198	missense variant	-	NC_000001.11:g.216677169G>C	gnomAD
ESRRG	P62508	p.Leu127Arg	rs1359013418	missense variant	-	NC_000001.11:g.216677168A>C	gnomAD
ESRRG	P62508	p.Leu129Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677162A>G	NCI-TCGA
ESRRG	P62508	p.Asp133Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677149G>C	NCI-TCGA
ESRRG	P62508	p.Ile134Val	rs745526622	missense variant	-	NC_000001.11:g.216677148T>C	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ile134Thr	COSM4028267	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677147A>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Gly137Trp	COSM1473409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677139C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Tyr138Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.216677134G>C	NCI-TCGA
ESRRG	P62508	p.Ala143Thr	rs1387291735	missense variant	-	NC_000001.11:g.216677121C>T	TOPMed,gnomAD
ESRRG	P62508	p.Ser144Leu	COSM3483710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677117G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Cys145Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677114C>T	NCI-TCGA
ESRRG	P62508	p.Glu146Lys	COSM4858742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677112C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Lys149Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216677102T>C	NCI-TCGA
ESRRG	P62508	p.Ala150Thr	COSM1338891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216677100C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Gln157Ter	COSM6061083	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216677079G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Ser163Gly	rs1194634049	missense variant	-	NC_000001.11:g.216651075T>C	TOPMed,gnomAD
ESRRG	P62508	p.Thr167Met	rs774655818	missense variant	-	NC_000001.11:g.216651062G>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Glu171Lys	COSM3483708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651051C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Thr173Lys	COSM4862662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651044G>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Arg175Cys	rs1365779917	missense variant	-	NC_000001.11:g.216651039G>A	TOPMed,gnomAD
ESRRG	P62508	p.Arg175His	rs746586110	missense variant	-	NC_000001.11:g.216651038C>T	ExAC,gnomAD
ESRRG	P62508	p.Lys178Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216651030T>C	NCI-TCGA
ESRRG	P62508	p.Ser179Pro	COSM6061085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651027A>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Cys183Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216651015A>T	NCI-TCGA
ESRRG	P62508	p.Arg184His	rs777160519	missense variant	-	NC_000001.11:g.216651011C>T	ExAC,gnomAD
ESRRG	P62508	p.Arg184Ser	COSM6061087	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651012G>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Met186Ile	COSM4869544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216651004C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Lys190Gln	rs1369099726	missense variant	-	NC_000001.11:g.216650994T>G	gnomAD
ESRRG	P62508	p.Arg199Cys	rs1476998088	missense variant	-	NC_000001.11:g.216568093G>A	TOPMed
ESRRG	P62508	p.Arg199His	COSM1958540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216568092C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Arg199Ser	COSM4028265	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216568093G>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Arg204His	rs184409476	missense variant	-	NC_000001.11:g.216568077C>T	1000Genomes
ESRRG	P62508	p.Arg204Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216568078G>A	NCI-TCGA
ESRRG	P62508	p.Arg207Trp	rs866598529	missense variant	-	NC_000001.11:g.216568069G>A	gnomAD
ESRRG	P62508	p.Arg207Gln	rs757317087	missense variant	-	NC_000001.11:g.216568068C>T	ExAC
ESRRG	P62508	p.Gln208Lys	rs752053042	missense variant	-	NC_000001.11:g.216568066G>T	ExAC,gnomAD
ESRRG	P62508	p.Tyr210Cys	rs764642258	missense variant	-	NC_000001.11:g.216568059T>C	ExAC,gnomAD
ESRRG	P62508	p.Tyr210Ter	COSM4861639	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216568058G>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Arg212His	rs760328973	missense variant	-	NC_000001.11:g.216568053C>T	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Arg212Ser	rs775763985	missense variant	-	NC_000001.11:g.216568054G>T	ExAC,gnomAD
ESRRG	P62508	p.Arg212Cys	rs775763985	missense variant	-	NC_000001.11:g.216568054G>A	ExAC,gnomAD
ESRRG	P62508	p.Arg212Leu	rs760328973	missense variant	-	NC_000001.11:g.216568053C>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Arg213Ser	COSM4874083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216568049C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Arg213Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216568050C>A	NCI-TCGA
ESRRG	P62508	p.Ile214Val	rs772791297	missense variant	-	NC_000001.11:g.216568048T>C	ExAC
ESRRG	P62508	p.Ala216Val	rs370360195	missense variant	-	NC_000001.11:g.216568041G>A	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ala216Gly	rs370360195	missense variant	-	NC_000001.11:g.216568041G>C	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ala216Glu	rs370360195	missense variant	-	NC_000001.11:g.216568041G>T	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Glu217Asp	rs768660193	missense variant	-	NC_000001.11:g.216568037C>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Glu217Gln	rs1436424414	missense variant	-	NC_000001.11:g.216568039C>G	gnomAD
ESRRG	P62508	p.Tyr221His	rs779860388	missense variant	-	NC_000001.11:g.216568027A>G	ExAC,gnomAD
ESRRG	P62508	p.Asn223Thr	rs1472676949	missense variant	-	NC_000001.11:g.216568020T>G	gnomAD
ESRRG	P62508	p.Asn223Tyr	rs201478526	missense variant	-	NC_000001.11:g.216568021T>A	1000Genomes,ExAC
ESRRG	P62508	p.Pro224Leu	rs1409902413	missense variant	-	NC_000001.11:g.216568017G>A	gnomAD
ESRRG	P62508	p.Pro224Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216568017G>C	NCI-TCGA
ESRRG	P62508	p.Pro224Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216568018G>T	NCI-TCGA
ESRRG	P62508	p.Leu226Val	rs1189192398	missense variant	-	NC_000001.11:g.216568012G>C	gnomAD
ESRRG	P62508	p.Leu226Gln	rs1477674632	missense variant	-	NC_000001.11:g.216568011A>T	gnomAD
ESRRG	P62508	p.Gln228Glu	rs1247182076	missense variant	-	NC_000001.11:g.216568006G>C	gnomAD
ESRRG	P62508	p.Pro229Gln	rs781333180	missense variant	-	NC_000001.11:g.216568002G>T	ExAC,gnomAD
ESRRG	P62508	p.Lys231Thr	rs751580504	missense variant	-	NC_000001.11:g.216567996T>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Lys232Asn	rs79583553	missense variant	-	NC_000001.11:g.216567992C>A	ExAC,gnomAD
ESRRG	P62508	p.Lys232Asn	rs79583553	missense variant	-	NC_000001.11:g.216567992C>G	ExAC,gnomAD
ESRRG	P62508	p.Pro233Ser	rs1299686557	missense variant	-	NC_000001.11:g.216567991G>A	gnomAD
ESRRG	P62508	p.Tyr234Asn	rs144069220	missense variant	-	NC_000001.11:g.216567988A>T	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Asn235Asp	rs1203404952	missense variant	-	NC_000001.11:g.216564378T>C	gnomAD
ESRRG	P62508	p.Ser239Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.216564365G>C	NCI-TCGA
ESRRG	P62508	p.Ser239Ala	rs761520035	missense variant	-	NC_000001.11:g.216564366A>C	ExAC,gnomAD
ESRRG	P62508	p.Leu241Met	COSM280872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564360A>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Leu242Val	rs149670038	missense variant	-	NC_000001.11:g.216564357A>C	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ala244Pro	COSM4860078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564351C>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Pro246Leu	rs763664788	missense variant	-	NC_000001.11:g.216564344G>A	ExAC,gnomAD
ESRRG	P62508	p.Pro246Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216564345G>T	NCI-TCGA
ESRRG	P62508	p.Lys248Arg	rs1395102544	missense variant	-	NC_000001.11:g.216564338T>C	gnomAD
ESRRG	P62508	p.Tyr250Cys	rs201435029	missense variant	-	NC_000001.11:g.216564332T>C	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Met252Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216564325C>G	NCI-TCGA
ESRRG	P62508	p.Met252Thr	rs1036013279	missense variant	-	NC_000001.11:g.216564326A>G	TOPMed
ESRRG	P62508	p.Pro253Leu	rs1400967760	missense variant	-	NC_000001.11:g.216564323G>A	TOPMed
ESRRG	P62508	p.Pro253Ser	rs1314537875	missense variant	-	NC_000001.11:g.216564324G>A	gnomAD
ESRRG	P62508	p.Asp254Asn	COSM1295873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564321C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Val257Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216564312C>T	NCI-TCGA
ESRRG	P62508	p.Asp259Asn	rs200261491	missense variant	-	NC_000001.11:g.216564306C>T	1000Genomes,ExAC,gnomAD
ESRRG	P62508	p.Asp261His	rs770733689	missense variant	-	NC_000001.11:g.216564300C>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ile262Val	rs1294175256	missense variant	-	NC_000001.11:g.216564297T>C	TOPMed
ESRRG	P62508	p.Ile262Thr	COSM4861540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564296A>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Thr266Ala	rs747209048	missense variant	-	NC_000001.11:g.216564285T>C	ExAC,gnomAD
ESRRG	P62508	p.Leu268Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216564279G>C	NCI-TCGA
ESRRG	P62508	p.Cys269Ser	COSM4028263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564276A>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Leu271Phe	rs1246586332	missense variant	-	NC_000001.11:g.216564268C>G	TOPMed
ESRRG	P62508	p.Asp273Asn	rs970280342	missense variant	-	NC_000001.11:g.216564264C>T	TOPMed,gnomAD
ESRRG	P62508	p.Asp273Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216564264C>A	NCI-TCGA
ESRRG	P62508	p.Arg274Gln	rs1265254562	missense variant	-	NC_000001.11:g.216564260C>T	TOPMed
ESRRG	P62508	p.Glu275Gln	rs748236147	missense variant	-	NC_000001.11:g.216564258C>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ile279Val	COSM4858853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564246T>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Ile280Thr	rs754403371	missense variant	-	NC_000001.11:g.216564242A>G	ExAC,gnomAD
ESRRG	P62508	p.Trp282Ter	COSM3864513	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216564235C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Ala283Val	rs1243398576	missense variant	-	NC_000001.11:g.216564233G>A	gnomAD
ESRRG	P62508	p.His285Asn	COSM6061093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216564228G>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Pro287Leu	rs756583718	missense variant	-	NC_000001.11:g.216564221G>A	ExAC,gnomAD
ESRRG	P62508	p.Gly288Ala	rs781691330	missense variant	-	NC_000001.11:g.216519421C>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Gly288Asp	rs781691330	missense variant	-	NC_000001.11:g.216519421C>T	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Gly288Val	rs781691330	missense variant	-	NC_000001.11:g.216519421C>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Phe289Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216519417G>T	NCI-TCGA
ESRRG	P62508	p.Ser290Phe	COSM4874899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519415G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Thr291Met	rs371851129	missense variant	-	NC_000001.11:g.216519412G>A	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Leu292Met	COSM4681776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519410G>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Ala295Glu	rs752416358	missense variant	-	NC_000001.11:g.216519400G>T	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ala295Val	rs752416358	missense variant	-	NC_000001.11:g.216519400G>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Met298Arg	COSM4028260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519391A>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Ser299Arg	rs754555777	missense variant	-	NC_000001.11:g.216519387G>C	ExAC,gnomAD
ESRRG	P62508	p.Leu300Ile	rs1158517684	missense variant	-	NC_000001.11:g.216519386G>T	TOPMed
ESRRG	P62508	p.Gln302His	rs760619098	missense variant	-	NC_000001.11:g.216519378C>G	ExAC,gnomAD
ESRRG	P62508	p.Gln302Ter	rs766363602	stop gained	-	NC_000001.11:g.216519380G>A	ExAC
ESRRG	P62508	p.Ser303Arg	rs772925003	missense variant	-	NC_000001.11:g.216519375A>C	ExAC,gnomAD
ESRRG	P62508	p.Ser303Gly	rs1254361401	missense variant	-	NC_000001.11:g.216519377T>C	gnomAD
ESRRG	P62508	p.Ser303Arg	rs772925003	missense variant	-	NC_000001.11:g.216519375A>C	NCI-TCGA,NCI-TCGA Cosmic
ESRRG	P62508	p.Trp305Cys	COSM903968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519369C>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Trp305Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216519369C>A	NCI-TCGA
ESRRG	P62508	p.Met306Val	rs767380807	missense variant	-	NC_000001.11:g.216519368T>C	ExAC,gnomAD
ESRRG	P62508	p.Met306Ile	COSM1689864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519366C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Ile308Met	rs1284490715	missense variant	-	NC_000001.11:g.216519360A>C	gnomAD
ESRRG	P62508	p.Ile308Met	rs1284490715	missense variant	-	NC_000001.11:g.216519360A>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Leu309Val	rs1206734214	missense variant	-	NC_000001.11:g.216519359A>C	gnomAD
ESRRG	P62508	p.Leu309Val	rs1206734214	missense variant	-	NC_000001.11:g.216519359A>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Ile310Val	COSM4868530	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519356T>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Gly312Ser	rs768590148	missense variant	-	NC_000001.11:g.216519350C>T	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Gly312Arg	COSM6061095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519350C>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Val313Ile	rs1064199	missense variant	-	NC_000001.11:g.216519347C>T	TOPMed
ESRRG	P62508	p.Val313Phe	rs1064199	missense variant	-	NC_000001.11:g.216519347C>A	TOPMed
ESRRG	P62508	p.Val314Ile	rs1349900590	missense variant	-	NC_000001.11:g.216519344C>T	gnomAD
ESRRG	P62508	p.Val314Ala	rs1332797323	missense variant	-	NC_000001.11:g.216519343A>G	TOPMed
ESRRG	P62508	p.Val314Ile	rs1349900590	missense variant	-	NC_000001.11:g.216519344C>T	NCI-TCGA
ESRRG	P62508	p.Tyr315His	rs1295534816	missense variant	-	NC_000001.11:g.216519341A>G	gnomAD
ESRRG	P62508	p.Arg316Trp	rs1443396687	missense variant	-	NC_000001.11:g.216519338G>A	TOPMed
ESRRG	P62508	p.Arg316Gln	rs775720774	missense variant	-	NC_000001.11:g.216519337C>T	ExAC,gnomAD
ESRRG	P62508	p.Ser319Ala	rs770354970	missense variant	-	NC_000001.11:g.216519329A>C	ExAC,gnomAD
ESRRG	P62508	p.Ser319Leu	rs866478481	missense variant	-	NC_000001.11:g.216519328G>A	TOPMed
ESRRG	P62508	p.Ser319Leu	rs866478481	missense variant	-	NC_000001.11:g.216519328G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Glu323Gly	rs1276131699	missense variant	-	NC_000001.11:g.216519316T>C	gnomAD
ESRRG	P62508	p.Val325Ile	rs368438663	missense variant	-	NC_000001.11:g.216519311C>T	ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ile331Thr	rs778694763	missense variant	-	NC_000001.11:g.216519292A>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ile331Leu	COSM4028254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519293T>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Met332Lys	rs1242407337	missense variant	-	NC_000001.11:g.216519289A>T	gnomAD
ESRRG	P62508	p.Glu334Lys	rs267598381	missense variant	-	NC_000001.11:g.216519284C>T	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Glu334Lys	rs267598381	missense variant	-	NC_000001.11:g.216519284C>T	NCI-TCGA,NCI-TCGA Cosmic
ESRRG	P62508	p.Asp335Val	rs765878912	missense variant	-	NC_000001.11:g.216519280T>A	ExAC,gnomAD
ESRRG	P62508	p.Gln336Lys	rs756008892	missense variant	-	NC_000001.11:g.216519278G>T	ExAC,gnomAD
ESRRG	P62508	p.Lys338Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216519271T>C	NCI-TCGA
ESRRG	P62508	p.Gly341Cys	COSM4873316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519263C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Leu343Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216519257G>T	NCI-TCGA
ESRRG	P62508	p.Asp344Gly	rs374379737	missense variant	-	NC_000001.11:g.216519253T>C	ESP,TOPMed
ESRRG	P62508	p.Asn346Ser	rs1288208522	missense variant	-	NC_000001.11:g.216519247T>C	gnomAD
ESRRG	P62508	p.Ile349Val	rs370879764	missense variant	-	NC_000001.11:g.216519239T>C	TOPMed,gnomAD
ESRRG	P62508	p.Val353Leu	COSM3418759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519227C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Lys354Glu	rs761711106	missense variant	-	NC_000001.11:g.216519224T>C	ExAC,gnomAD
ESRRG	P62508	p.Tyr356Cys	rs1430017283	missense variant	-	NC_000001.11:g.216519217T>C	TOPMed
ESRRG	P62508	p.Tyr356Cys	rs1430017283	missense variant	-	NC_000001.11:g.216519217T>C	NCI-TCGA
ESRRG	P62508	p.Tyr356Cys	RCV000766138	missense variant	-	NC_000001.11:g.216519217T>C	ClinVar
ESRRG	P62508	p.Met359Thr	rs1355017212	missense variant	-	NC_000001.11:g.216519208A>G	gnomAD
ESRRG	P62508	p.Met359Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216519207C>T	NCI-TCGA
ESRRG	P62508	p.Lys360Glu	COSM256875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519206T>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Glu362Lys	COSM1689862	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519200C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Lys363Glu	rs138701648	missense variant	-	NC_000001.11:g.216519197T>C	ESP,ExAC
ESRRG	P62508	p.Glu364Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216519194C>G	NCI-TCGA
ESRRG	P62508	p.Glu365Lys	rs1313915177	missense variant	-	NC_000001.11:g.216519191C>T	gnomAD
ESRRG	P62508	p.Leu369Phe	COSM3483703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216519179G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Lys370Gln	rs1416987858	missense variant	-	NC_000001.11:g.216519176T>G	gnomAD
ESRRG	P62508	p.Ala373Val	rs764316284	missense variant	-	NC_000001.11:g.216519166G>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ser379Cys	rs994779706	missense variant	-	NC_000001.11:g.216507180G>C	TOPMed
ESRRG	P62508	p.Met380Thr	rs1468085364	missense variant	-	NC_000001.11:g.216507177A>G	gnomAD
ESRRG	P62508	p.His381Asn	rs763823306	missense variant	-	NC_000001.11:g.216507175G>T	ExAC,gnomAD
ESRRG	P62508	p.Ile382Thr	rs763216993	missense variant	-	NC_000001.11:g.216507171A>G	ExAC,gnomAD
ESRRG	P62508	p.Ile382Leu	rs1215799375	missense variant	-	NC_000001.11:g.216507172T>A	gnomAD
ESRRG	P62508	p.Val385Ala	rs753016428	missense variant	-	NC_000001.11:g.216507162A>G	ExAC,gnomAD
ESRRG	P62508	p.Val385Ile	rs1303681282	missense variant	-	NC_000001.11:g.216507163C>T	TOPMed
ESRRG	P62508	p.Val385Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216507163C>A	NCI-TCGA
ESRRG	P62508	p.Glu386Ala	rs765374487	missense variant	-	NC_000001.11:g.216507159T>G	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Val388Ile	rs141423098	missense variant	-	NC_000001.11:g.216507154C>T	NCI-TCGA,NCI-TCGA Cosmic
ESRRG	P62508	p.Val388Phe	rs141423098	missense variant	-	NC_000001.11:g.216507154C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Val388Ile	rs141423098	missense variant	-	NC_000001.11:g.216507154C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Gln392Arg	rs1203770683	missense variant	-	NC_000001.11:g.216507141T>C	gnomAD
ESRRG	P62508	p.Val394Ile	rs761091969	missense variant	-	NC_000001.11:g.216507136C>T	ExAC,gnomAD
ESRRG	P62508	p.Val394Ala	rs1327852196	missense variant	-	NC_000001.11:g.216507135A>G	TOPMed,gnomAD
ESRRG	P62508	p.Ala398Val	rs779724222	missense variant	-	NC_000001.11:g.216507123G>A	ExAC,TOPMed,gnomAD
ESRRG	P62508	p.Ala398Thr	rs748920741	missense variant	-	NC_000001.11:g.216507124C>T	ExAC,gnomAD
ESRRG	P62508	p.Ala398Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216507123G>T	NCI-TCGA
ESRRG	P62508	p.Ala398Thr	rs748920741	missense variant	-	NC_000001.11:g.216507124C>T	NCI-TCGA
ESRRG	P62508	p.Ala398Val	rs779724222	missense variant	-	NC_000001.11:g.216507123G>A	NCI-TCGA
ESRRG	P62508	p.Gln400Arg	rs1189401364	missense variant	-	NC_000001.11:g.216507117T>C	gnomAD
ESRRG	P62508	p.Tyr402His	COSM4871824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216507112A>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Met408Val	rs1195535339	missense variant	-	NC_000001.11:g.216507094T>C	TOPMed,gnomAD
ESRRG	P62508	p.Glu409Lys	COSM3864511	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216507091C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Asp410Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216507088C>A	NCI-TCGA
ESRRG	P62508	p.Arg412Cys	rs777601840	missense variant	-	NC_000001.11:g.216507082G>A	ExAC,gnomAD
ESRRG	P62508	p.Arg412His	rs1217025239	missense variant	-	NC_000001.11:g.216507081C>T	TOPMed,gnomAD
ESRRG	P62508	p.Arg412His	rs1217025239	missense variant	-	NC_000001.11:g.216507081C>T	NCI-TCGA Cosmic
ESRRG	P62508	p.Arg412Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216507082G>T	NCI-TCGA
ESRRG	P62508	p.Arg413Ter	rs1175042812	stop gained	-	NC_000001.11:g.216507079G>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Arg413Gln	rs1319112255	missense variant	-	NC_000001.11:g.216507078C>T	NCI-TCGA
ESRRG	P62508	p.Arg413Gln	rs1319112255	missense variant	-	NC_000001.11:g.216507078C>T	gnomAD
ESRRG	P62508	p.Arg413Ter	rs1175042812	stop gained	-	NC_000001.11:g.216507079G>A	TOPMed
ESRRG	P62508	p.Ala414Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216507076C>G	NCI-TCGA
ESRRG	P62508	p.Met417Ile	rs1234232225	missense variant	-	NC_000001.11:g.216507065C>A	gnomAD
ESRRG	P62508	p.Met419Ile	COSM4864152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216507059C>A	NCI-TCGA Cosmic
ESRRG	P62508	p.Lys430Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216507026C>A	NCI-TCGA
ESRRG	P62508	p.Lys430Arg	rs1287921361	missense variant	-	NC_000001.11:g.216507027T>C	gnomAD
ESRRG	P62508	p.Ala431Val	rs1430921691	missense variant	-	NC_000001.11:g.216507024G>A	NCI-TCGA
ESRRG	P62508	p.Ala431Val	rs1430921691	missense variant	-	NC_000001.11:g.216507024G>A	gnomAD
ESRRG	P62508	p.Val432Met	rs1171465044	missense variant	-	NC_000001.11:g.216507022C>T	TOPMed,gnomAD
ESRRG	P62508	p.Tyr436Cys	rs1343852674	missense variant	-	NC_000001.11:g.216507009T>C	TOPMed
ESRRG	P62508	p.Asn437His	rs1338874641	missense variant	-	NC_000001.11:g.216507007T>G	TOPMed,gnomAD
ESRRG	P62508	p.Lys439Asn	rs1213269380	missense variant	-	NC_000001.11:g.216506999T>A	TOPMed
ESRRG	P62508	p.Gly442Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.216506992C>A	NCI-TCGA
ESRRG	P62508	p.Gly442Asp	rs1156920483	missense variant	-	NC_000001.11:g.216506991C>T	gnomAD
ESRRG	P62508	p.Lys443Arg	COSM4872313	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216506988T>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Met446Val	rs1272932911	missense variant	-	NC_000001.11:g.216506980T>C	TOPMed
ESRRG	P62508	p.Leu451TrpPheSerTerUnkUnk	COSM4612865	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.216506964A>-	NCI-TCGA Cosmic
ESRRG	P62508	p.Leu451PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.216506963_216506964insA	NCI-TCGA
ESRRG	P62508	p.Glu455Gln	rs1198308881	missense variant	-	NC_000001.11:g.216506953C>G	TOPMed
ESRRG	P62508	p.Ala456Ser	rs1408576320	missense variant	-	NC_000001.11:g.216506950C>A	gnomAD
ESRRG	P62508	p.Lys457Thr	COSM1338888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216506946T>G	NCI-TCGA Cosmic
ESRRG	P62508	p.Lys457Arg	COSM4028248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.216506946T>C	NCI-TCGA Cosmic
ESRRG	P62508	p.Val458Phe	rs761196018	missense variant	-	NC_000001.11:g.216506944C>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Met1Val	RCV000006496	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042167A>G	ClinVar
RPS26	P62854	p.Met1Leu	RCV000006497	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042167A>T	ClinVar
RPS26	P62854	p.Arg6Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.56042437A>G	NCI-TCGA
RPS26	P62854	p.Asn8Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.56042444A>G	NCI-TCGA
RPS26	P62854	p.Ala11Ser	rs1192679912	missense variant	-	NC_000012.12:g.56042452G>T	gnomAD
RPS26	P62854	p.Ala11Ter	RCV000006499	frameshift	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042452dup	ClinVar
RPS26	P62854	p.Arg15Ser	rs554573812	missense variant	-	NC_000012.12:g.56042464C>A	1000Genomes,ExAC,gnomAD
RPS26	P62854	p.Arg15Cys	rs554573812	missense variant	-	NC_000012.12:g.56042464C>T	1000Genomes,ExAC,gnomAD
RPS26	P62854	p.Gln19Ter	RCV000195166	nonsense	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042476C>T	ClinVar
RPS26	P62854	p.Gln19Arg	rs1373140707	missense variant	-	NC_000012.12:g.56042477A>G	TOPMed
RPS26	P62854	p.Gln19Ter	rs797045919	stop gained	-	NC_000012.12:g.56042476C>T	-
RPS26	P62854	p.Ile21Leu	rs1392801928	missense variant	-	NC_000012.12:g.56042482A>C	gnomAD
RPS26	P62854	p.Ile21Thr	rs1440564331	missense variant	-	NC_000012.12:g.56042483T>C	gnomAD
RPS26	P62854	p.Arg22Gly	rs762701251	missense variant	-	NC_000012.12:g.56042485C>G	ExAC,gnomAD
RPS26	P62854	p.Arg22Leu	rs1440126385	missense variant	-	NC_000012.12:g.56042486G>T	gnomAD
RPS26	P62854	p.Cys23Tyr	rs1279094371	missense variant	-	NC_000012.12:g.56042489G>A	gnomAD
RPS26	P62854	p.Arg28Gln	rs767205458	missense variant	-	NC_000012.12:g.56042504G>A	ExAC,gnomAD
RPS26	P62854	p.Arg28Gly	rs142032466	missense variant	-	NC_000012.12:g.56042503C>G	ESP,ExAC,TOPMed,gnomAD
RPS26	P62854	p.Arg28Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.56042504G>T	NCI-TCGA
RPS26	P62854	p.Cys29Tyr	rs1439136228	missense variant	-	NC_000012.12:g.56042507G>A	gnomAD
RPS26	P62854	p.Lys32Glu	rs765640589	missense variant	-	NC_000012.12:g.56042515A>G	ExAC,gnomAD
RPS26	P62854	p.Asp33Asn	rs267607023	missense variant	Diamond-blackfan anemia 10 (dba10)	NC_000012.12:g.56042518G>A	-
RPS26	P62854	p.Asp33Asn	rs267607023	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042518G>A	UniProt,dbSNP
RPS26	P62854	p.Asp33Asn	VAR_063580	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042518G>A	UniProt
RPS26	P62854	p.Asp33Asn	RCV000006498	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042518G>A	ClinVar
RPS26	P62854	p.Ala35Thr	rs1308342580	missense variant	-	NC_000012.12:g.56042524G>A	gnomAD
RPS26	P62854	p.Val40Ile	rs1461249724	missense variant	-	NC_000012.12:g.56042539G>A	gnomAD
RPS26	P62854	p.Ile41Leu	rs778224908	missense variant	-	NC_000012.12:g.56042542A>C	ExAC,gnomAD
RPS26	P62854	p.Ile41Met	COSM694517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.56042544T>G	NCI-TCGA Cosmic
RPS26	P62854	p.Arg42Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.56042546G>T	NCI-TCGA
RPS26	P62854	p.Arg42Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.56042545C>T	NCI-TCGA
RPS26	P62854	p.Ile44SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.56042551_56042552AT>-	NCI-TCGA
RPS26	P62854	p.Ile53Val	rs1295092646	missense variant	-	NC_000012.12:g.56042578A>G	gnomAD
RPS26	P62854	p.Val58Ile	rs769953745	missense variant	-	NC_000012.12:g.56042593G>A	ExAC,gnomAD
RPS26	P62854	p.Leu64Phe	COSM1935353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.56043371C>T	NCI-TCGA Cosmic
RPS26	P62854	p.Tyr68Cys	COSM941483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.56043384A>G	NCI-TCGA Cosmic
RPS26	P62854	p.Tyr73Ter	RCV000578766	nonsense	-	NC_000012.12:g.56043400C>G	ClinVar
RPS26	P62854	p.Tyr73Ter	rs150229551	stop gained	-	NC_000012.12:g.56043400C>G	-
RPS26	P62854	p.Val75Ter	RCV000559583	frameshift	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56043401_56043402TG[2]	ClinVar
RPS26	P62854	p.Arg87Ter	rs148942765	stop gained	Diamond-blackfan anemia 10 (dba10)	NC_000012.12:g.56043440C>T	ExAC,gnomAD
RPS26	P62854	p.Arg87Ter	RCV000191914	nonsense	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (DBA15)	NC_000012.12:g.56043440C>T	ClinVar
RPS26	P62854	p.Arg87Ter	RCV000167574	nonsense	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56043440C>T	ClinVar
RPS26	P62854	p.Arg89His	rs764673368	missense variant	-	NC_000012.12:g.56043447G>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Arg89Pro	RCV000855401	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56043447G>C	ClinVar
RPS26	P62854	p.Arg92His	rs767978509	missense variant	-	NC_000012.12:g.56043456G>A	ExAC,gnomAD
RPS26	P62854	p.Arg92Gly	rs762075522	missense variant	-	NC_000012.12:g.56043455C>G	ExAC,gnomAD
RPS26	P62854	p.Arg95Ter	rs1470083202	stop gained	-	NC_000012.12:g.56043464C>T	TOPMed,gnomAD
RPS26	P62854	p.Arg95Pro	rs1192007587	missense variant	-	NC_000012.12:g.56043465G>C	gnomAD
RPS26	P62854	p.Pro98HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.56043470C>-	NCI-TCGA
RPS26	P62854	p.Arg100Ter	rs755101044	stop gained	-	NC_000012.12:g.56043479C>T	ExAC,gnomAD
RPS26	P62854	p.Arg100Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.56043480G>A	NCI-TCGA
RPS26	P62854	p.Pro103Ser	rs1428147741	missense variant	-	NC_000012.12:g.56043488C>T	TOPMed
RPS26	P62854	p.Ala104Val	rs778791702	missense variant	-	NC_000012.12:g.56043492C>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Ala106Thr	rs759607404	missense variant	-	NC_000012.12:g.56044122G>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Ala106Ser	rs759607404	missense variant	-	NC_000012.12:g.56044122G>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro108Ser	COSM3463317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.56044128C>T	NCI-TCGA Cosmic
RPS26	P62854	p.Arg109His	rs1294448241	missense variant	-	NC_000012.12:g.56044132G>A	gnomAD
RPS26	P62854	p.Arg109Cys	rs765416321	missense variant	-	NC_000012.12:g.56044131C>T	ExAC,gnomAD
RPS26	P62854	p.Pro110Ala	rs758315355	missense variant	-	NC_000012.12:g.56044134C>G	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro110Thr	rs758315355	missense variant	-	NC_000012.12:g.56044134C>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro110Leu	COSM4488228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.56044135C>T	NCI-TCGA Cosmic
RPS26	P62854	p.Pro111Leu	rs777591468	missense variant	-	NC_000012.12:g.56044138C>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro114Ser	rs751376747	missense variant	-	NC_000012.12:g.56044146C>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Met115Thr	VAR_063581	Missense	Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]	-	UniProt
RPS26	P62854	p.Met1Val	RCV000006496	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042167A>G	ClinVar
RPS26	P62854	p.Met1Leu	RCV000006497	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042167A>T	ClinVar
RPS26	P62854	p.Ala11Ser	rs1192679912	missense variant	-	NC_000012.12:g.56042452G>T	gnomAD
RPS26	P62854	p.Ala11Ter	RCV000006499	frameshift	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042452dup	ClinVar
RPS26	P62854	p.Arg15Cys	rs554573812	missense variant	-	NC_000012.12:g.56042464C>T	1000Genomes,ExAC,gnomAD
RPS26	P62854	p.Arg15Ser	rs554573812	missense variant	-	NC_000012.12:g.56042464C>A	1000Genomes,ExAC,gnomAD
RPS26	P62854	p.Gln19Ter	RCV000195166	nonsense	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042476C>T	ClinVar
RPS26	P62854	p.Gln19Ter	rs797045919	stop gained	-	NC_000012.12:g.56042476C>T	-
RPS26	P62854	p.Gln19Arg	rs1373140707	missense variant	-	NC_000012.12:g.56042477A>G	TOPMed
RPS26	P62854	p.Ile21Leu	rs1392801928	missense variant	-	NC_000012.12:g.56042482A>C	gnomAD
RPS26	P62854	p.Ile21Thr	rs1440564331	missense variant	-	NC_000012.12:g.56042483T>C	gnomAD
RPS26	P62854	p.Arg22Leu	rs1440126385	missense variant	-	NC_000012.12:g.56042486G>T	gnomAD
RPS26	P62854	p.Arg22Gly	rs762701251	missense variant	-	NC_000012.12:g.56042485C>G	ExAC,gnomAD
RPS26	P62854	p.Cys23Tyr	rs1279094371	missense variant	-	NC_000012.12:g.56042489G>A	gnomAD
RPS26	P62854	p.Arg28Gly	rs142032466	missense variant	-	NC_000012.12:g.56042503C>G	ESP,ExAC,TOPMed,gnomAD
RPS26	P62854	p.Arg28Gln	rs767205458	missense variant	-	NC_000012.12:g.56042504G>A	ExAC,gnomAD
RPS26	P62854	p.Cys29Tyr	rs1439136228	missense variant	-	NC_000012.12:g.56042507G>A	gnomAD
RPS26	P62854	p.Lys32Glu	rs765640589	missense variant	-	NC_000012.12:g.56042515A>G	ExAC,gnomAD
RPS26	P62854	p.Asp33Asn	RCV000006498	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042518G>A	ClinVar
RPS26	P62854	p.Asp33Asn	rs267607023	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042518G>A	UniProt,dbSNP
RPS26	P62854	p.Asp33Asn	VAR_063580	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042518G>A	UniProt
RPS26	P62854	p.Asp33Asn	rs267607023	missense variant	Diamond-blackfan anemia 10 (dba10)	NC_000012.12:g.56042518G>A	-
RPS26	P62854	p.Ala35Thr	rs1308342580	missense variant	-	NC_000012.12:g.56042524G>A	gnomAD
RPS26	P62854	p.Val40Ile	rs1461249724	missense variant	-	NC_000012.12:g.56042539G>A	gnomAD
RPS26	P62854	p.Ile41Leu	rs778224908	missense variant	-	NC_000012.12:g.56042542A>C	ExAC,gnomAD
RPS26	P62854	p.Ile53Val	rs1295092646	missense variant	-	NC_000012.12:g.56042578A>G	gnomAD
RPS26	P62854	p.Val58Ile	rs769953745	missense variant	-	NC_000012.12:g.56042593G>A	ExAC,gnomAD
RPS26	P62854	p.Tyr73Ter	RCV000578766	nonsense	-	NC_000012.12:g.56043400C>G	ClinVar
RPS26	P62854	p.Tyr73Ter	rs150229551	stop gained	-	NC_000012.12:g.56043400C>G	-
RPS26	P62854	p.Val75Ter	RCV000559583	frameshift	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56043401_56043402TG[2]	ClinVar
RPS26	P62854	p.Arg87Ter	rs148942765	stop gained	Diamond-blackfan anemia 10 (dba10)	NC_000012.12:g.56043440C>T	ExAC,gnomAD
RPS26	P62854	p.Arg87Ter	RCV000167574	nonsense	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56043440C>T	ClinVar
RPS26	P62854	p.Arg87Ter	RCV000191914	nonsense	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (DBA15)	NC_000012.12:g.56043440C>T	ClinVar
RPS26	P62854	p.Arg89His	rs764673368	missense variant	-	NC_000012.12:g.56043447G>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Arg89Pro	RCV000855401	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56043447G>C	ClinVar
RPS26	P62854	p.Arg92Gly	rs762075522	missense variant	-	NC_000012.12:g.56043455C>G	ExAC,gnomAD
RPS26	P62854	p.Arg92His	rs767978509	missense variant	-	NC_000012.12:g.56043456G>A	ExAC,gnomAD
RPS26	P62854	p.Arg95Pro	rs1192007587	missense variant	-	NC_000012.12:g.56043465G>C	gnomAD
RPS26	P62854	p.Arg95Ter	rs1470083202	stop gained	-	NC_000012.12:g.56043464C>T	TOPMed,gnomAD
RPS26	P62854	p.Arg100Ter	rs755101044	stop gained	-	NC_000012.12:g.56043479C>T	ExAC,gnomAD
RPS26	P62854	p.Pro103Ser	rs1428147741	missense variant	-	NC_000012.12:g.56043488C>T	TOPMed
RPS26	P62854	p.Ala104Val	rs778791702	missense variant	-	NC_000012.12:g.56043492C>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Ala106Thr	rs759607404	missense variant	-	NC_000012.12:g.56044122G>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Ala106Ser	rs759607404	missense variant	-	NC_000012.12:g.56044122G>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Arg109Cys	rs765416321	missense variant	-	NC_000012.12:g.56044131C>T	ExAC,gnomAD
RPS26	P62854	p.Arg109His	rs1294448241	missense variant	-	NC_000012.12:g.56044132G>A	gnomAD
RPS26	P62854	p.Pro110Ala	rs758315355	missense variant	-	NC_000012.12:g.56044134C>G	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro110Thr	rs758315355	missense variant	-	NC_000012.12:g.56044134C>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro111Leu	rs777591468	missense variant	-	NC_000012.12:g.56044138C>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro114Ser	rs751376747	missense variant	-	NC_000012.12:g.56044146C>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Met115Thr	VAR_063581	Missense	Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]	-	UniProt
RPS26	P62854	p.Met1Leu	RCV000006497	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042167A>T	ClinVar
RPS26	P62854	p.Met1Val	RCV000006496	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042167A>G	ClinVar
RPS26	P62854	p.Ala11Ser	rs1192679912	missense variant	-	NC_000012.12:g.56042452G>T	gnomAD
RPS26	P62854	p.Ala11Ter	RCV000006499	frameshift	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042452dup	ClinVar
RPS26	P62854	p.Arg15Cys	rs554573812	missense variant	-	NC_000012.12:g.56042464C>T	1000Genomes,ExAC,gnomAD
RPS26	P62854	p.Arg15Ser	rs554573812	missense variant	-	NC_000012.12:g.56042464C>A	1000Genomes,ExAC,gnomAD
RPS26	P62854	p.Gln19Ter	RCV000195166	nonsense	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042476C>T	ClinVar
RPS26	P62854	p.Gln19Arg	rs1373140707	missense variant	-	NC_000012.12:g.56042477A>G	TOPMed
RPS26	P62854	p.Gln19Ter	rs797045919	stop gained	-	NC_000012.12:g.56042476C>T	-
RPS26	P62854	p.Ile21Thr	rs1440564331	missense variant	-	NC_000012.12:g.56042483T>C	gnomAD
RPS26	P62854	p.Ile21Leu	rs1392801928	missense variant	-	NC_000012.12:g.56042482A>C	gnomAD
RPS26	P62854	p.Arg22Leu	rs1440126385	missense variant	-	NC_000012.12:g.56042486G>T	gnomAD
RPS26	P62854	p.Arg22Gly	rs762701251	missense variant	-	NC_000012.12:g.56042485C>G	ExAC,gnomAD
RPS26	P62854	p.Cys23Tyr	rs1279094371	missense variant	-	NC_000012.12:g.56042489G>A	gnomAD
RPS26	P62854	p.Arg28Gly	rs142032466	missense variant	-	NC_000012.12:g.56042503C>G	ESP,ExAC,TOPMed,gnomAD
RPS26	P62854	p.Arg28Gln	rs767205458	missense variant	-	NC_000012.12:g.56042504G>A	ExAC,gnomAD
RPS26	P62854	p.Cys29Tyr	rs1439136228	missense variant	-	NC_000012.12:g.56042507G>A	gnomAD
RPS26	P62854	p.Lys32Glu	rs765640589	missense variant	-	NC_000012.12:g.56042515A>G	ExAC,gnomAD
RPS26	P62854	p.Asp33Asn	RCV000006498	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042518G>A	ClinVar
RPS26	P62854	p.Asp33Asn	rs267607023	missense variant	Diamond-blackfan anemia 10 (dba10)	NC_000012.12:g.56042518G>A	-
RPS26	P62854	p.Asp33Asn	rs267607023	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042518G>A	UniProt,dbSNP
RPS26	P62854	p.Asp33Asn	VAR_063580	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56042518G>A	UniProt
RPS26	P62854	p.Ala35Thr	rs1308342580	missense variant	-	NC_000012.12:g.56042524G>A	gnomAD
RPS26	P62854	p.Val40Ile	rs1461249724	missense variant	-	NC_000012.12:g.56042539G>A	gnomAD
RPS26	P62854	p.Ile41Leu	rs778224908	missense variant	-	NC_000012.12:g.56042542A>C	ExAC,gnomAD
RPS26	P62854	p.Ile53Val	rs1295092646	missense variant	-	NC_000012.12:g.56042578A>G	gnomAD
RPS26	P62854	p.Val58Ile	rs769953745	missense variant	-	NC_000012.12:g.56042593G>A	ExAC,gnomAD
RPS26	P62854	p.Tyr73Ter	RCV000578766	nonsense	-	NC_000012.12:g.56043400C>G	ClinVar
RPS26	P62854	p.Tyr73Ter	rs150229551	stop gained	-	NC_000012.12:g.56043400C>G	-
RPS26	P62854	p.Val75Ter	RCV000559583	frameshift	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56043401_56043402TG[2]	ClinVar
RPS26	P62854	p.Arg87Ter	rs148942765	stop gained	Diamond-blackfan anemia 10 (dba10)	NC_000012.12:g.56043440C>T	ExAC,gnomAD
RPS26	P62854	p.Arg87Ter	RCV000191914	nonsense	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis (DBA15)	NC_000012.12:g.56043440C>T	ClinVar
RPS26	P62854	p.Arg87Ter	RCV000167574	nonsense	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56043440C>T	ClinVar
RPS26	P62854	p.Arg89His	rs764673368	missense variant	-	NC_000012.12:g.56043447G>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Arg89Pro	RCV000855401	missense variant	Diamond-Blackfan anemia 10 (DBA10)	NC_000012.12:g.56043447G>C	ClinVar
RPS26	P62854	p.Arg92Gly	rs762075522	missense variant	-	NC_000012.12:g.56043455C>G	ExAC,gnomAD
RPS26	P62854	p.Arg92His	rs767978509	missense variant	-	NC_000012.12:g.56043456G>A	ExAC,gnomAD
RPS26	P62854	p.Arg95Ter	rs1470083202	stop gained	-	NC_000012.12:g.56043464C>T	TOPMed,gnomAD
RPS26	P62854	p.Arg95Pro	rs1192007587	missense variant	-	NC_000012.12:g.56043465G>C	gnomAD
RPS26	P62854	p.Arg100Ter	rs755101044	stop gained	-	NC_000012.12:g.56043479C>T	ExAC,gnomAD
RPS26	P62854	p.Pro103Ser	rs1428147741	missense variant	-	NC_000012.12:g.56043488C>T	TOPMed
RPS26	P62854	p.Ala104Val	rs778791702	missense variant	-	NC_000012.12:g.56043492C>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Ala106Ser	rs759607404	missense variant	-	NC_000012.12:g.56044122G>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Ala106Thr	rs759607404	missense variant	-	NC_000012.12:g.56044122G>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Arg109His	rs1294448241	missense variant	-	NC_000012.12:g.56044132G>A	gnomAD
RPS26	P62854	p.Arg109Cys	rs765416321	missense variant	-	NC_000012.12:g.56044131C>T	ExAC,gnomAD
RPS26	P62854	p.Pro110Thr	rs758315355	missense variant	-	NC_000012.12:g.56044134C>A	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro110Ala	rs758315355	missense variant	-	NC_000012.12:g.56044134C>G	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro111Leu	rs777591468	missense variant	-	NC_000012.12:g.56044138C>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Pro114Ser	rs751376747	missense variant	-	NC_000012.12:g.56044146C>T	ExAC,TOPMed,gnomAD
RPS26	P62854	p.Met115Thr	VAR_063581	Missense	Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]	-	UniProt
GRB2	P62993	p.Ala3Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75393621G>A	NCI-TCGA
GRB2	P62993	p.Ile4Val	rs768682842	missense variant	-	NC_000017.11:g.75393619T>C	ExAC,gnomAD
GRB2	P62993	p.Ala5Gly	rs1456069170	missense variant	-	NC_000017.11:g.75393615G>C	TOPMed
GRB2	P62993	p.Tyr7Asn	rs1370066638	missense variant	-	NC_000017.11:g.75393610A>T	gnomAD
GRB2	P62993	p.Tyr7MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.75393610A>-	NCI-TCGA
GRB2	P62993	p.Tyr7Asp	COSM4069545	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75393610A>C	NCI-TCGA Cosmic
GRB2	P62993	p.Lys10Arg	rs778762890	missense variant	-	NC_000017.11:g.75393600T>C	ExAC,gnomAD
GRB2	P62993	p.Lys10Thr	rs778762890	missense variant	-	NC_000017.11:g.75393600T>G	ExAC,gnomAD
GRB2	P62993	p.Ala13Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75393591G>A	NCI-TCGA
GRB2	P62993	p.Lys20Arg	rs776356926	missense variant	-	NC_000017.11:g.75393570T>C	gnomAD
GRB2	P62993	p.Asp23Asn	rs1264906633	missense variant	-	NC_000017.11:g.75393562C>T	gnomAD
GRB2	P62993	p.Ile24Phe	rs1192603825	missense variant	-	NC_000017.11:g.75393559T>A	gnomAD
GRB2	P62993	p.Glu30Lys	rs149945676	missense variant	-	NC_000017.11:g.75332788C>T	ESP,TOPMed,gnomAD
GRB2	P62993	p.Glu30Asp	rs1325913225	missense variant	-	NC_000017.11:g.75332786T>G	gnomAD
GRB2	P62993	p.Glu31Lys	rs1245281557	missense variant	-	NC_000017.11:g.75332785C>T	TOPMed
GRB2	P62993	p.Cys32Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.75332781_75332782insTGGGATGGATGTCATACTTTTT	NCI-TCGA
GRB2	P62993	p.Leu41Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75332755G>T	NCI-TCGA
GRB2	P62993	p.Lys50Asn	rs1474828505	missense variant	-	NC_000017.11:g.75332726C>G	gnomAD
GRB2	P62993	p.Tyr52Cys	rs1467933469	missense variant	-	NC_000017.11:g.75332721T>C	gnomAD
GRB2	P62993	p.Ile53Thr	rs150762903	missense variant	-	NC_000017.11:g.75332718A>G	ESP,ExAC,gnomAD
GRB2	P62993	p.Ile53Val	rs1368485004	missense variant	-	NC_000017.11:g.75332719T>C	gnomAD
GRB2	P62993	p.Ile53Met	rs1444599555	missense variant	-	NC_000017.11:g.75332717T>C	gnomAD
GRB2	P62993	p.Ile53Arg	COSM6082062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75332718A>C	NCI-TCGA Cosmic
GRB2	P62993	p.His58Arg	rs754676096	missense variant	-	NC_000017.11:g.75332703T>C	ExAC,gnomAD
GRB2	P62993	p.Pro59Leu	rs55726696	missense variant	-	NC_000017.11:g.75332700G>A	gnomAD
GRB2	P62993	p.Phe61Cys	rs1300552478	missense variant	-	NC_000017.11:g.75326015A>C	gnomAD
GRB2	P62993	p.Phe62Leu	rs746624401	missense variant	-	NC_000017.11:g.75326011A>C	ExAC,gnomAD
GRB2	P62993	p.Gly63Ser	rs1439531650	missense variant	-	NC_000017.11:g.75326010C>T	gnomAD
GRB2	P62993	p.Lys64Arg	rs1441058334	missense variant	-	NC_000017.11:g.75326006T>C	gnomAD
GRB2	P62993	p.Pro66Ser	rs779784380	missense variant	-	NC_000017.11:g.75326001G>A	ExAC,gnomAD
GRB2	P62993	p.Met73Val	rs1393017493	missense variant	-	NC_000017.11:g.75325980T>C	gnomAD
GRB2	P62993	p.Arg78Trp	rs1458191451	missense variant	-	NC_000017.11:g.75325965G>A	gnomAD
GRB2	P62993	p.Arg78Gln	rs749962653	missense variant	-	NC_000017.11:g.75325964C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.His79Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75325962G>A	NCI-TCGA
GRB2	P62993	p.Asp80Asn	COSM984354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75325959C>T	NCI-TCGA Cosmic
GRB2	P62993	p.Ala82Thr	COSM984353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75325953C>T	NCI-TCGA Cosmic
GRB2	P62993	p.Ile85Thr	rs757755769	missense variant	-	NC_000017.11:g.75325943A>G	ExAC,gnomAD
GRB2	P62993	p.Phe95Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75325912G>C	NCI-TCGA
GRB2	P62993	p.Lys100Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75325899T>C	NCI-TCGA
GRB2	P62993	p.Asp104Asn	rs756413472	missense variant	-	NC_000017.11:g.75321817C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Asp104His	rs756413472	missense variant	-	NC_000017.11:g.75321817C>G	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Lys109Arg	rs1216139865	missense variant	-	NC_000017.11:g.75321801T>C	TOPMed
GRB2	P62993	p.Arg112Gln	rs1487234599	missense variant	-	NC_000017.11:g.75321792C>T	TOPMed
GRB2	P62993	p.Arg112Ter	rs759793650	stop gained	-	NC_000017.11:g.75321793G>A	ExAC,gnomAD
GRB2	P62993	p.Gly116Arg	rs1359241313	missense variant	-	NC_000017.11:g.75321781C>T	gnomAD
GRB2	P62993	p.Lys117Arg	COSM984352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75321777T>C	NCI-TCGA Cosmic
GRB2	P62993	p.Tyr118Phe	rs1287646174	missense variant	-	NC_000017.11:g.75321774T>A	gnomAD
GRB2	P62993	p.Leu120Ile	rs1430561495	missense variant	-	NC_000017.11:g.75321769G>T	TOPMed,gnomAD
GRB2	P62993	p.Leu120Phe	rs1430561495	missense variant	-	NC_000017.11:g.75321769G>A	TOPMed,gnomAD
GRB2	P62993	p.Val122Met	rs1181904019	missense variant	-	NC_000017.11:g.75321763C>T	TOPMed
GRB2	P62993	p.Asn126Lys	rs776658070	missense variant	-	NC_000017.11:g.75321749A>T	ExAC,gnomAD
GRB2	P62993	p.Asn126Ser	rs147175500	missense variant	-	NC_000017.11:g.75321750T>C	ESP,ExAC,TOPMed,gnomAD
GRB2	P62993	p.Ser127Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75321747G>T	NCI-TCGA
GRB2	P62993	p.Glu130Asp	rs1433224486	missense variant	-	NC_000017.11:g.75321737C>A	TOPMed,gnomAD
GRB2	P62993	p.Glu130Asp	COSM70974	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75321737C>G	NCI-TCGA Cosmic
GRB2	P62993	p.Val132Leu	rs768727425	missense variant	-	NC_000017.11:g.75321733C>A	ExAC,gnomAD
GRB2	P62993	p.Asp133Asn	rs760319998	missense variant	-	NC_000017.11:g.75321730C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Val140Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75321709C>G	NCI-TCGA
GRB2	P62993	p.Arg142Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75321702C>T	NCI-TCGA
GRB2	P62993	p.Asn143Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75321698G>T	NCI-TCGA
GRB2	P62993	p.Phe147Leu	rs1417381613	missense variant	-	NC_000017.11:g.75321688A>G	gnomAD
GRB2	P62993	p.Arg149Trp	rs1185887918	missense variant	-	NC_000017.11:g.75321682G>A	gnomAD
GRB2	P62993	p.Arg149Gln	rs745504425	missense variant	-	NC_000017.11:g.75321681C>T	ExAC,gnomAD
GRB2	P62993	p.Ile151Met	COSM6147942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75321674T>C	NCI-TCGA Cosmic
GRB2	P62993	p.Val154Leu	COSM6082063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75321667C>A	NCI-TCGA Cosmic
GRB2	P62993	p.Gln156His	rs1305943510	missense variant	-	NC_000017.11:g.75321659C>G	TOPMed
GRB2	P62993	p.Gln156Arg	COSM275366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75321660T>C	NCI-TCGA Cosmic
GRB2	P62993	p.Pro158Leu	rs1231922914	missense variant	-	NC_000017.11:g.75320549G>A	gnomAD
GRB2	P62993	p.Pro158Ser	rs1275609833	missense variant	-	NC_000017.11:g.75320550G>A	TOPMed,gnomAD
GRB2	P62993	p.Val161Phe	COSM6147943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75320541C>A	NCI-TCGA Cosmic
GRB2	P62993	p.Leu164PhePheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.75320532_75320533insTCAAGAAGCAATTATTTAAA	NCI-TCGA
GRB2	P62993	p.Leu164SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.75320533_75320534insAA	NCI-TCGA
GRB2	P62993	p.Phe165ThrPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.75320532_75320533insTCAA	NCI-TCGA
GRB2	P62993	p.Asp168Glu	rs1371499761	missense variant	-	NC_000017.11:g.75320518A>C	gnomAD
GRB2	P62993	p.Asp168Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75320520C>A	NCI-TCGA
GRB2	P62993	p.Gln170Ter	rs770576272	stop gained	-	NC_000017.11:g.75320514G>A	ExAC,gnomAD
GRB2	P62993	p.Arg178Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75320490G>T	NCI-TCGA
GRB2	P62993	p.Arg179Leu	rs749010443	missense variant	-	NC_000017.11:g.75320486C>A	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg179Gln	rs749010443	missense variant	-	NC_000017.11:g.75320486C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Phe182Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75320477A>G	NCI-TCGA
GRB2	P62993	p.His184Arg	rs772698801	missense variant	-	NC_000017.11:g.75320471T>C	ExAC,TOPMed,gnomAD
GRB2	P62993	p.His184Tyr	rs1162708794	missense variant	-	NC_000017.11:g.75320472G>A	gnomAD
GRB2	P62993	p.Met186Ile	rs769240235	missense variant	-	NC_000017.11:g.75320464C>T	ExAC,gnomAD
GRB2	P62993	p.Asn188Asp	rs748660687	missense variant	-	NC_000017.11:g.75320460T>C	ExAC,gnomAD
GRB2	P62993	p.Gly196GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.75320437T>-	NCI-TCGA
GRB2	P62993	p.Gly200Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75320424C>A	NCI-TCGA
GRB2	P62993	p.Gln201Leu	COSM6082064	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.75320420T>A	NCI-TCGA Cosmic
GRB2	P62993	p.Arg207Cys	rs767443992	missense variant	-	NC_000017.11:g.75320403G>A	TOPMed,gnomAD
GRB2	P62993	p.Arg207His	rs547957878	missense variant	-	NC_000017.11:g.75320402C>T	1000Genomes,ExAC,gnomAD
GRB2	P62993	p.Val210Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75320393A>T	NCI-TCGA
GRB2	P62993	p.Thr211Asn	rs758687779	missense variant	-	NC_000017.11:g.75320390G>T	ExAC,gnomAD
GRB2	P62993	p.Pro212Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.75320387G>A	NCI-TCGA
GRB2	P62993	p.Val213Met	rs765384707	missense variant	-	NC_000017.11:g.75320385C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Val213Leu	rs765384707	missense variant	-	NC_000017.11:g.75320385C>A	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Val213Glu	rs1315492591	missense variant	-	NC_000017.11:g.75320384A>T	gnomAD
GRB2	P62993	p.Val213Ter	COSM2978846	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.75320386G>-	NCI-TCGA Cosmic
GRB2	P62993	p.Arg215Trp	rs1306575458	missense variant	-	NC_000017.11:g.75320379G>A	gnomAD
GRB2	P62993	p.Arg215Gln	rs371871562	missense variant	-	NC_000017.11:g.75320378C>T	ESP,ExAC,TOPMed,gnomAD
GRB2	P62993	p.Val217Ile	rs767371260	missense variant	-	NC_000017.11:g.75320373C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Ile4Val	rs768682842	missense variant	-	NC_000017.11:g.75393619T>C	ExAC,gnomAD
GRB2	P62993	p.Ala5Gly	rs1456069170	missense variant	-	NC_000017.11:g.75393615G>C	TOPMed
GRB2	P62993	p.Tyr7Asn	rs1370066638	missense variant	-	NC_000017.11:g.75393610A>T	gnomAD
GRB2	P62993	p.Lys10Arg	rs778762890	missense variant	-	NC_000017.11:g.75393600T>C	ExAC,gnomAD
GRB2	P62993	p.Lys10Thr	rs778762890	missense variant	-	NC_000017.11:g.75393600T>G	ExAC,gnomAD
GRB2	P62993	p.Lys20Arg	rs776356926	missense variant	-	NC_000017.11:g.75393570T>C	gnomAD
GRB2	P62993	p.Asp23Asn	rs1264906633	missense variant	-	NC_000017.11:g.75393562C>T	gnomAD
GRB2	P62993	p.Ile24Phe	rs1192603825	missense variant	-	NC_000017.11:g.75393559T>A	gnomAD
GRB2	P62993	p.Glu30Lys	rs149945676	missense variant	-	NC_000017.11:g.75332788C>T	ESP,TOPMed,gnomAD
GRB2	P62993	p.Glu30Asp	rs1325913225	missense variant	-	NC_000017.11:g.75332786T>G	gnomAD
GRB2	P62993	p.Glu31Lys	rs1245281557	missense variant	-	NC_000017.11:g.75332785C>T	TOPMed
GRB2	P62993	p.Lys50Asn	rs1474828505	missense variant	-	NC_000017.11:g.75332726C>G	gnomAD
GRB2	P62993	p.Tyr52Cys	rs1467933469	missense variant	-	NC_000017.11:g.75332721T>C	gnomAD
GRB2	P62993	p.Ile53Thr	rs150762903	missense variant	-	NC_000017.11:g.75332718A>G	ESP,ExAC,gnomAD
GRB2	P62993	p.Ile53Met	rs1444599555	missense variant	-	NC_000017.11:g.75332717T>C	gnomAD
GRB2	P62993	p.Ile53Val	rs1368485004	missense variant	-	NC_000017.11:g.75332719T>C	gnomAD
GRB2	P62993	p.His58Arg	rs754676096	missense variant	-	NC_000017.11:g.75332703T>C	ExAC,gnomAD
GRB2	P62993	p.Pro59Leu	rs55726696	missense variant	-	NC_000017.11:g.75332700G>A	gnomAD
GRB2	P62993	p.Phe61Cys	rs1300552478	missense variant	-	NC_000017.11:g.75326015A>C	gnomAD
GRB2	P62993	p.Phe62Leu	rs746624401	missense variant	-	NC_000017.11:g.75326011A>C	ExAC,gnomAD
GRB2	P62993	p.Gly63Ser	rs1439531650	missense variant	-	NC_000017.11:g.75326010C>T	gnomAD
GRB2	P62993	p.Lys64Arg	rs1441058334	missense variant	-	NC_000017.11:g.75326006T>C	gnomAD
GRB2	P62993	p.Pro66Ser	rs779784380	missense variant	-	NC_000017.11:g.75326001G>A	ExAC,gnomAD
GRB2	P62993	p.Met73Val	rs1393017493	missense variant	-	NC_000017.11:g.75325980T>C	gnomAD
GRB2	P62993	p.Arg78Trp	rs1458191451	missense variant	-	NC_000017.11:g.75325965G>A	gnomAD
GRB2	P62993	p.Arg78Gln	rs749962653	missense variant	-	NC_000017.11:g.75325964C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Ile85Thr	rs757755769	missense variant	-	NC_000017.11:g.75325943A>G	ExAC,gnomAD
GRB2	P62993	p.Asp104His	rs756413472	missense variant	-	NC_000017.11:g.75321817C>G	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Asp104Asn	rs756413472	missense variant	-	NC_000017.11:g.75321817C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Lys109Arg	rs1216139865	missense variant	-	NC_000017.11:g.75321801T>C	TOPMed
GRB2	P62993	p.Arg112Ter	rs759793650	stop gained	-	NC_000017.11:g.75321793G>A	ExAC,gnomAD
GRB2	P62993	p.Arg112Gln	rs1487234599	missense variant	-	NC_000017.11:g.75321792C>T	TOPMed
GRB2	P62993	p.Gly116Arg	rs1359241313	missense variant	-	NC_000017.11:g.75321781C>T	gnomAD
GRB2	P62993	p.Tyr118Phe	rs1287646174	missense variant	-	NC_000017.11:g.75321774T>A	gnomAD
GRB2	P62993	p.Leu120Phe	rs1430561495	missense variant	-	NC_000017.11:g.75321769G>A	TOPMed,gnomAD
GRB2	P62993	p.Leu120Ile	rs1430561495	missense variant	-	NC_000017.11:g.75321769G>T	TOPMed,gnomAD
GRB2	P62993	p.Val122Met	rs1181904019	missense variant	-	NC_000017.11:g.75321763C>T	TOPMed
GRB2	P62993	p.Asn126Lys	rs776658070	missense variant	-	NC_000017.11:g.75321749A>T	ExAC,gnomAD
GRB2	P62993	p.Asn126Ser	rs147175500	missense variant	-	NC_000017.11:g.75321750T>C	ESP,ExAC,TOPMed,gnomAD
GRB2	P62993	p.Glu130Asp	rs1433224486	missense variant	-	NC_000017.11:g.75321737C>A	TOPMed,gnomAD
GRB2	P62993	p.Val132Leu	rs768727425	missense variant	-	NC_000017.11:g.75321733C>A	ExAC,gnomAD
GRB2	P62993	p.Asp133Asn	rs760319998	missense variant	-	NC_000017.11:g.75321730C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Phe147Leu	rs1417381613	missense variant	-	NC_000017.11:g.75321688A>G	gnomAD
GRB2	P62993	p.Arg149Gln	rs745504425	missense variant	-	NC_000017.11:g.75321681C>T	ExAC,gnomAD
GRB2	P62993	p.Arg149Trp	rs1185887918	missense variant	-	NC_000017.11:g.75321682G>A	gnomAD
GRB2	P62993	p.Gln156His	rs1305943510	missense variant	-	NC_000017.11:g.75321659C>G	TOPMed
GRB2	P62993	p.Pro158Ser	rs1275609833	missense variant	-	NC_000017.11:g.75320550G>A	TOPMed,gnomAD
GRB2	P62993	p.Pro158Leu	rs1231922914	missense variant	-	NC_000017.11:g.75320549G>A	gnomAD
GRB2	P62993	p.Asp168Glu	rs1371499761	missense variant	-	NC_000017.11:g.75320518A>C	gnomAD
GRB2	P62993	p.Gln170Ter	rs770576272	stop gained	-	NC_000017.11:g.75320514G>A	ExAC,gnomAD
GRB2	P62993	p.Arg179Leu	rs749010443	missense variant	-	NC_000017.11:g.75320486C>A	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg179Gln	rs749010443	missense variant	-	NC_000017.11:g.75320486C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.His184Arg	rs772698801	missense variant	-	NC_000017.11:g.75320471T>C	ExAC,TOPMed,gnomAD
GRB2	P62993	p.His184Tyr	rs1162708794	missense variant	-	NC_000017.11:g.75320472G>A	gnomAD
GRB2	P62993	p.Met186Ile	rs769240235	missense variant	-	NC_000017.11:g.75320464C>T	ExAC,gnomAD
GRB2	P62993	p.Asn188Asp	rs748660687	missense variant	-	NC_000017.11:g.75320460T>C	ExAC,gnomAD
GRB2	P62993	p.Arg207Cys	rs767443992	missense variant	-	NC_000017.11:g.75320403G>A	TOPMed,gnomAD
GRB2	P62993	p.Arg207His	rs547957878	missense variant	-	NC_000017.11:g.75320402C>T	1000Genomes,ExAC,gnomAD
GRB2	P62993	p.Thr211Asn	rs758687779	missense variant	-	NC_000017.11:g.75320390G>T	ExAC,gnomAD
GRB2	P62993	p.Val213Met	rs765384707	missense variant	-	NC_000017.11:g.75320385C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Val213Glu	rs1315492591	missense variant	-	NC_000017.11:g.75320384A>T	gnomAD
GRB2	P62993	p.Val213Leu	rs765384707	missense variant	-	NC_000017.11:g.75320385C>A	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg215Gln	rs371871562	missense variant	-	NC_000017.11:g.75320378C>T	ESP,ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg215Trp	rs1306575458	missense variant	-	NC_000017.11:g.75320379G>A	gnomAD
GRB2	P62993	p.Val217Ile	rs767371260	missense variant	-	NC_000017.11:g.75320373C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Ile4Val	rs768682842	missense variant	-	NC_000017.11:g.75393619T>C	ExAC,gnomAD
GRB2	P62993	p.Ala5Gly	rs1456069170	missense variant	-	NC_000017.11:g.75393615G>C	TOPMed
GRB2	P62993	p.Tyr7Asn	rs1370066638	missense variant	-	NC_000017.11:g.75393610A>T	gnomAD
GRB2	P62993	p.Lys10Thr	rs778762890	missense variant	-	NC_000017.11:g.75393600T>G	ExAC,gnomAD
GRB2	P62993	p.Lys10Arg	rs778762890	missense variant	-	NC_000017.11:g.75393600T>C	ExAC,gnomAD
GRB2	P62993	p.Lys20Arg	rs776356926	missense variant	-	NC_000017.11:g.75393570T>C	gnomAD
GRB2	P62993	p.Asp23Asn	rs1264906633	missense variant	-	NC_000017.11:g.75393562C>T	gnomAD
GRB2	P62993	p.Ile24Phe	rs1192603825	missense variant	-	NC_000017.11:g.75393559T>A	gnomAD
GRB2	P62993	p.Glu30Lys	rs149945676	missense variant	-	NC_000017.11:g.75332788C>T	ESP,TOPMed,gnomAD
GRB2	P62993	p.Glu30Asp	rs1325913225	missense variant	-	NC_000017.11:g.75332786T>G	gnomAD
GRB2	P62993	p.Glu31Lys	rs1245281557	missense variant	-	NC_000017.11:g.75332785C>T	TOPMed
GRB2	P62993	p.Lys50Asn	rs1474828505	missense variant	-	NC_000017.11:g.75332726C>G	gnomAD
GRB2	P62993	p.Tyr52Cys	rs1467933469	missense variant	-	NC_000017.11:g.75332721T>C	gnomAD
GRB2	P62993	p.Ile53Met	rs1444599555	missense variant	-	NC_000017.11:g.75332717T>C	gnomAD
GRB2	P62993	p.Ile53Val	rs1368485004	missense variant	-	NC_000017.11:g.75332719T>C	gnomAD
GRB2	P62993	p.Ile53Thr	rs150762903	missense variant	-	NC_000017.11:g.75332718A>G	ESP,ExAC,gnomAD
GRB2	P62993	p.His58Arg	rs754676096	missense variant	-	NC_000017.11:g.75332703T>C	ExAC,gnomAD
GRB2	P62993	p.Pro59Leu	rs55726696	missense variant	-	NC_000017.11:g.75332700G>A	gnomAD
GRB2	P62993	p.Phe61Cys	rs1300552478	missense variant	-	NC_000017.11:g.75326015A>C	gnomAD
GRB2	P62993	p.Phe62Leu	rs746624401	missense variant	-	NC_000017.11:g.75326011A>C	ExAC,gnomAD
GRB2	P62993	p.Gly63Ser	rs1439531650	missense variant	-	NC_000017.11:g.75326010C>T	gnomAD
GRB2	P62993	p.Lys64Arg	rs1441058334	missense variant	-	NC_000017.11:g.75326006T>C	gnomAD
GRB2	P62993	p.Pro66Ser	rs779784380	missense variant	-	NC_000017.11:g.75326001G>A	ExAC,gnomAD
GRB2	P62993	p.Met73Val	rs1393017493	missense variant	-	NC_000017.11:g.75325980T>C	gnomAD
GRB2	P62993	p.Arg78Gln	rs749962653	missense variant	-	NC_000017.11:g.75325964C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg78Trp	rs1458191451	missense variant	-	NC_000017.11:g.75325965G>A	gnomAD
GRB2	P62993	p.Ile85Thr	rs757755769	missense variant	-	NC_000017.11:g.75325943A>G	ExAC,gnomAD
GRB2	P62993	p.Asp104Asn	rs756413472	missense variant	-	NC_000017.11:g.75321817C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Asp104His	rs756413472	missense variant	-	NC_000017.11:g.75321817C>G	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Lys109Arg	rs1216139865	missense variant	-	NC_000017.11:g.75321801T>C	TOPMed
GRB2	P62993	p.Arg112Ter	rs759793650	stop gained	-	NC_000017.11:g.75321793G>A	ExAC,gnomAD
GRB2	P62993	p.Arg112Gln	rs1487234599	missense variant	-	NC_000017.11:g.75321792C>T	TOPMed
GRB2	P62993	p.Gly116Arg	rs1359241313	missense variant	-	NC_000017.11:g.75321781C>T	gnomAD
GRB2	P62993	p.Tyr118Phe	rs1287646174	missense variant	-	NC_000017.11:g.75321774T>A	gnomAD
GRB2	P62993	p.Leu120Phe	rs1430561495	missense variant	-	NC_000017.11:g.75321769G>A	TOPMed,gnomAD
GRB2	P62993	p.Leu120Ile	rs1430561495	missense variant	-	NC_000017.11:g.75321769G>T	TOPMed,gnomAD
GRB2	P62993	p.Val122Met	rs1181904019	missense variant	-	NC_000017.11:g.75321763C>T	TOPMed
GRB2	P62993	p.Asn126Ser	rs147175500	missense variant	-	NC_000017.11:g.75321750T>C	ESP,ExAC,TOPMed,gnomAD
GRB2	P62993	p.Asn126Lys	rs776658070	missense variant	-	NC_000017.11:g.75321749A>T	ExAC,gnomAD
GRB2	P62993	p.Glu130Asp	rs1433224486	missense variant	-	NC_000017.11:g.75321737C>A	TOPMed,gnomAD
GRB2	P62993	p.Val132Leu	rs768727425	missense variant	-	NC_000017.11:g.75321733C>A	ExAC,gnomAD
GRB2	P62993	p.Asp133Asn	rs760319998	missense variant	-	NC_000017.11:g.75321730C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Phe147Leu	rs1417381613	missense variant	-	NC_000017.11:g.75321688A>G	gnomAD
GRB2	P62993	p.Arg149Trp	rs1185887918	missense variant	-	NC_000017.11:g.75321682G>A	gnomAD
GRB2	P62993	p.Arg149Gln	rs745504425	missense variant	-	NC_000017.11:g.75321681C>T	ExAC,gnomAD
GRB2	P62993	p.Gln156His	rs1305943510	missense variant	-	NC_000017.11:g.75321659C>G	TOPMed
GRB2	P62993	p.Pro158Leu	rs1231922914	missense variant	-	NC_000017.11:g.75320549G>A	gnomAD
GRB2	P62993	p.Pro158Ser	rs1275609833	missense variant	-	NC_000017.11:g.75320550G>A	TOPMed,gnomAD
GRB2	P62993	p.Asp168Glu	rs1371499761	missense variant	-	NC_000017.11:g.75320518A>C	gnomAD
GRB2	P62993	p.Gln170Ter	rs770576272	stop gained	-	NC_000017.11:g.75320514G>A	ExAC,gnomAD
GRB2	P62993	p.Arg179Gln	rs749010443	missense variant	-	NC_000017.11:g.75320486C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg179Leu	rs749010443	missense variant	-	NC_000017.11:g.75320486C>A	ExAC,TOPMed,gnomAD
GRB2	P62993	p.His184Arg	rs772698801	missense variant	-	NC_000017.11:g.75320471T>C	ExAC,TOPMed,gnomAD
GRB2	P62993	p.His184Tyr	rs1162708794	missense variant	-	NC_000017.11:g.75320472G>A	gnomAD
GRB2	P62993	p.Met186Ile	rs769240235	missense variant	-	NC_000017.11:g.75320464C>T	ExAC,gnomAD
GRB2	P62993	p.Asn188Asp	rs748660687	missense variant	-	NC_000017.11:g.75320460T>C	ExAC,gnomAD
GRB2	P62993	p.Arg207His	rs547957878	missense variant	-	NC_000017.11:g.75320402C>T	1000Genomes,ExAC,gnomAD
GRB2	P62993	p.Arg207Cys	rs767443992	missense variant	-	NC_000017.11:g.75320403G>A	TOPMed,gnomAD
GRB2	P62993	p.Thr211Asn	rs758687779	missense variant	-	NC_000017.11:g.75320390G>T	ExAC,gnomAD
GRB2	P62993	p.Val213Leu	rs765384707	missense variant	-	NC_000017.11:g.75320385C>A	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Val213Glu	rs1315492591	missense variant	-	NC_000017.11:g.75320384A>T	gnomAD
GRB2	P62993	p.Val213Met	rs765384707	missense variant	-	NC_000017.11:g.75320385C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg215Gln	rs371871562	missense variant	-	NC_000017.11:g.75320378C>T	ESP,ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg215Trp	rs1306575458	missense variant	-	NC_000017.11:g.75320379G>A	gnomAD
GRB2	P62993	p.Val217Ile	rs767371260	missense variant	-	NC_000017.11:g.75320373C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Ile4Val	rs768682842	missense variant	-	NC_000017.11:g.75393619T>C	ExAC,gnomAD
GRB2	P62993	p.Ala5Gly	rs1456069170	missense variant	-	NC_000017.11:g.75393615G>C	TOPMed
GRB2	P62993	p.Tyr7Asn	rs1370066638	missense variant	-	NC_000017.11:g.75393610A>T	gnomAD
GRB2	P62993	p.Lys10Arg	rs778762890	missense variant	-	NC_000017.11:g.75393600T>C	ExAC,gnomAD
GRB2	P62993	p.Lys10Thr	rs778762890	missense variant	-	NC_000017.11:g.75393600T>G	ExAC,gnomAD
GRB2	P62993	p.Lys20Arg	rs776356926	missense variant	-	NC_000017.11:g.75393570T>C	gnomAD
GRB2	P62993	p.Asp23Asn	rs1264906633	missense variant	-	NC_000017.11:g.75393562C>T	gnomAD
GRB2	P62993	p.Ile24Phe	rs1192603825	missense variant	-	NC_000017.11:g.75393559T>A	gnomAD
GRB2	P62993	p.Glu30Lys	rs149945676	missense variant	-	NC_000017.11:g.75332788C>T	ESP,TOPMed,gnomAD
GRB2	P62993	p.Glu30Asp	rs1325913225	missense variant	-	NC_000017.11:g.75332786T>G	gnomAD
GRB2	P62993	p.Glu31Lys	rs1245281557	missense variant	-	NC_000017.11:g.75332785C>T	TOPMed
GRB2	P62993	p.Lys50Asn	rs1474828505	missense variant	-	NC_000017.11:g.75332726C>G	gnomAD
GRB2	P62993	p.Tyr52Cys	rs1467933469	missense variant	-	NC_000017.11:g.75332721T>C	gnomAD
GRB2	P62993	p.Ile53Met	rs1444599555	missense variant	-	NC_000017.11:g.75332717T>C	gnomAD
GRB2	P62993	p.Ile53Val	rs1368485004	missense variant	-	NC_000017.11:g.75332719T>C	gnomAD
GRB2	P62993	p.Ile53Thr	rs150762903	missense variant	-	NC_000017.11:g.75332718A>G	ESP,ExAC,gnomAD
GRB2	P62993	p.His58Arg	rs754676096	missense variant	-	NC_000017.11:g.75332703T>C	ExAC,gnomAD
GRB2	P62993	p.Pro59Leu	rs55726696	missense variant	-	NC_000017.11:g.75332700G>A	gnomAD
GRB2	P62993	p.Phe61Cys	rs1300552478	missense variant	-	NC_000017.11:g.75326015A>C	gnomAD
GRB2	P62993	p.Phe62Leu	rs746624401	missense variant	-	NC_000017.11:g.75326011A>C	ExAC,gnomAD
GRB2	P62993	p.Gly63Ser	rs1439531650	missense variant	-	NC_000017.11:g.75326010C>T	gnomAD
GRB2	P62993	p.Lys64Arg	rs1441058334	missense variant	-	NC_000017.11:g.75326006T>C	gnomAD
GRB2	P62993	p.Pro66Ser	rs779784380	missense variant	-	NC_000017.11:g.75326001G>A	ExAC,gnomAD
GRB2	P62993	p.Met73Val	rs1393017493	missense variant	-	NC_000017.11:g.75325980T>C	gnomAD
GRB2	P62993	p.Arg78Trp	rs1458191451	missense variant	-	NC_000017.11:g.75325965G>A	gnomAD
GRB2	P62993	p.Arg78Gln	rs749962653	missense variant	-	NC_000017.11:g.75325964C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Ile85Thr	rs757755769	missense variant	-	NC_000017.11:g.75325943A>G	ExAC,gnomAD
GRB2	P62993	p.Asp104Asn	rs756413472	missense variant	-	NC_000017.11:g.75321817C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Asp104His	rs756413472	missense variant	-	NC_000017.11:g.75321817C>G	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Lys109Arg	rs1216139865	missense variant	-	NC_000017.11:g.75321801T>C	TOPMed
GRB2	P62993	p.Arg112Gln	rs1487234599	missense variant	-	NC_000017.11:g.75321792C>T	TOPMed
GRB2	P62993	p.Arg112Ter	rs759793650	stop gained	-	NC_000017.11:g.75321793G>A	ExAC,gnomAD
GRB2	P62993	p.Gly116Arg	rs1359241313	missense variant	-	NC_000017.11:g.75321781C>T	gnomAD
GRB2	P62993	p.Tyr118Phe	rs1287646174	missense variant	-	NC_000017.11:g.75321774T>A	gnomAD
GRB2	P62993	p.Leu120Ile	rs1430561495	missense variant	-	NC_000017.11:g.75321769G>T	TOPMed,gnomAD
GRB2	P62993	p.Leu120Phe	rs1430561495	missense variant	-	NC_000017.11:g.75321769G>A	TOPMed,gnomAD
GRB2	P62993	p.Val122Met	rs1181904019	missense variant	-	NC_000017.11:g.75321763C>T	TOPMed
GRB2	P62993	p.Asn126Ser	rs147175500	missense variant	-	NC_000017.11:g.75321750T>C	ESP,ExAC,TOPMed,gnomAD
GRB2	P62993	p.Asn126Lys	rs776658070	missense variant	-	NC_000017.11:g.75321749A>T	ExAC,gnomAD
GRB2	P62993	p.Glu130Asp	rs1433224486	missense variant	-	NC_000017.11:g.75321737C>A	TOPMed,gnomAD
GRB2	P62993	p.Val132Leu	rs768727425	missense variant	-	NC_000017.11:g.75321733C>A	ExAC,gnomAD
GRB2	P62993	p.Asp133Asn	rs760319998	missense variant	-	NC_000017.11:g.75321730C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Phe147Leu	rs1417381613	missense variant	-	NC_000017.11:g.75321688A>G	gnomAD
GRB2	P62993	p.Arg149Trp	rs1185887918	missense variant	-	NC_000017.11:g.75321682G>A	gnomAD
GRB2	P62993	p.Arg149Gln	rs745504425	missense variant	-	NC_000017.11:g.75321681C>T	ExAC,gnomAD
GRB2	P62993	p.Gln156His	rs1305943510	missense variant	-	NC_000017.11:g.75321659C>G	TOPMed
GRB2	P62993	p.Pro158Leu	rs1231922914	missense variant	-	NC_000017.11:g.75320549G>A	gnomAD
GRB2	P62993	p.Pro158Ser	rs1275609833	missense variant	-	NC_000017.11:g.75320550G>A	TOPMed,gnomAD
GRB2	P62993	p.Asp168Glu	rs1371499761	missense variant	-	NC_000017.11:g.75320518A>C	gnomAD
GRB2	P62993	p.Gln170Ter	rs770576272	stop gained	-	NC_000017.11:g.75320514G>A	ExAC,gnomAD
GRB2	P62993	p.Arg179Leu	rs749010443	missense variant	-	NC_000017.11:g.75320486C>A	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg179Gln	rs749010443	missense variant	-	NC_000017.11:g.75320486C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.His184Tyr	rs1162708794	missense variant	-	NC_000017.11:g.75320472G>A	gnomAD
GRB2	P62993	p.His184Arg	rs772698801	missense variant	-	NC_000017.11:g.75320471T>C	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Met186Ile	rs769240235	missense variant	-	NC_000017.11:g.75320464C>T	ExAC,gnomAD
GRB2	P62993	p.Asn188Asp	rs748660687	missense variant	-	NC_000017.11:g.75320460T>C	ExAC,gnomAD
GRB2	P62993	p.Arg207Cys	rs767443992	missense variant	-	NC_000017.11:g.75320403G>A	TOPMed,gnomAD
GRB2	P62993	p.Arg207His	rs547957878	missense variant	-	NC_000017.11:g.75320402C>T	1000Genomes,ExAC,gnomAD
GRB2	P62993	p.Thr211Asn	rs758687779	missense variant	-	NC_000017.11:g.75320390G>T	ExAC,gnomAD
GRB2	P62993	p.Val213Leu	rs765384707	missense variant	-	NC_000017.11:g.75320385C>A	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Val213Met	rs765384707	missense variant	-	NC_000017.11:g.75320385C>T	ExAC,TOPMed,gnomAD
GRB2	P62993	p.Val213Glu	rs1315492591	missense variant	-	NC_000017.11:g.75320384A>T	gnomAD
GRB2	P62993	p.Arg215Gln	rs371871562	missense variant	-	NC_000017.11:g.75320378C>T	ESP,ExAC,TOPMed,gnomAD
GRB2	P62993	p.Arg215Trp	rs1306575458	missense variant	-	NC_000017.11:g.75320379G>A	gnomAD
GRB2	P62993	p.Val217Ile	rs767371260	missense variant	-	NC_000017.11:g.75320373C>T	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Thr2Ile	rs774327541	missense variant	-	NC_000017.11:g.35594035C>T	ExAC,gnomAD
AP2B1	P63010	p.Asp3Gly	rs896314463	missense variant	-	NC_000017.11:g.35594038A>G	TOPMed,gnomAD
AP2B1	P63010	p.Asp3Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35594038A>C	NCI-TCGA
AP2B1	P63010	p.Lys5Arg	rs1455592958	missense variant	-	NC_000017.11:g.35594044A>G	TOPMed,gnomAD
AP2B1	P63010	p.Asn10Ile	rs761290352	missense variant	-	NC_000017.11:g.35594059A>T	ExAC,gnomAD
AP2B1	P63010	p.Gly13Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.35594067G>T	NCI-TCGA
AP2B1	P63010	p.Glu14Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.35598232G>T	NCI-TCGA
AP2B1	P63010	p.Glu21Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35598255A>T	NCI-TCGA
AP2B1	P63010	p.Lys27Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35598272A>C	NCI-TCGA
AP2B1	P63010	p.Arg30GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.35598279G>-	NCI-TCGA
AP2B1	P63010	p.Arg30Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35598281G>T	NCI-TCGA
AP2B1	P63010	p.Lys31Arg	rs1438126887	missense variant	-	NC_000017.11:g.35598284A>G	gnomAD
AP2B1	P63010	p.Ala40Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35598311C>A	NCI-TCGA
AP2B1	P63010	p.Met41Val	rs1165855428	missense variant	-	NC_000017.11:g.35598313A>G	gnomAD
AP2B1	P63010	p.Val43Met	rs770755535	missense variant	-	NC_000017.11:g.35598319G>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asp46Glu	rs776332490	missense variant	-	NC_000017.11:g.35598330T>G	ExAC,gnomAD
AP2B1	P63010	p.Ser49Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35605707C>A	NCI-TCGA
AP2B1	P63010	p.Leu50Val	rs370502932	missense variant	-	NC_000017.11:g.35605709C>G	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Phe51Leu	rs1476009928	missense variant	-	NC_000017.11:g.35605712T>C	gnomAD
AP2B1	P63010	p.Pro52Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35605715C>T	NCI-TCGA
AP2B1	P63010	p.Pro52Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35605715C>G	NCI-TCGA
AP2B1	P63010	p.Asp53Glu	rs575183143	missense variant	-	NC_000017.11:g.35605720C>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Val54Ile	rs1422145750	missense variant	-	NC_000017.11:g.35605721G>A	gnomAD
AP2B1	P63010	p.Met74Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35605781A>T	NCI-TCGA
AP2B1	P63010	p.Ser79Asn	rs752585201	missense variant	-	NC_000017.11:g.35605797G>A	ExAC,gnomAD
AP2B1	P63010	p.Met83Val	rs758253002	missense variant	-	NC_000017.11:g.35605808A>G	ExAC,gnomAD
AP2B1	P63010	p.Ala84Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35605812C>T	NCI-TCGA
AP2B1	P63010	p.Met86Ile	rs1005166885	missense variant	-	NC_000017.11:g.35605819G>A	-
AP2B1	P63010	p.Ala87Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35605820G>T	NCI-TCGA
AP2B1	P63010	p.Lys93Arg	rs746875747	missense variant	-	NC_000017.11:g.35605839A>G	ExAC,gnomAD
AP2B1	P63010	p.Asp94Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608142G>T	NCI-TCGA
AP2B1	P63010	p.Asp97Tyr	rs751564830	missense variant	-	NC_000017.11:g.35608151G>T	ExAC,gnomAD
AP2B1	P63010	p.Pro98Thr	rs1413705125	missense variant	-	NC_000017.11:g.35608154C>A	TOPMed
AP2B1	P63010	p.Arg103Ter	rs1231191557	stop gained	-	NC_000017.11:g.35608169C>T	gnomAD
AP2B1	P63010	p.Arg103Gln	rs757180229	missense variant	-	NC_000017.11:g.35608170G>A	ExAC,gnomAD
AP2B1	P63010	p.Val107Ile	rs1239857349	missense variant	-	NC_000017.11:g.35608181G>A	gnomAD
AP2B1	P63010	p.Cys112Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608196T>A	NCI-TCGA
AP2B1	P63010	p.Arg114Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608203G>A	NCI-TCGA
AP2B1	P63010	p.Cys123Gly	rs1196142328	missense variant	-	NC_000017.11:g.35608229T>G	gnomAD
AP2B1	P63010	p.Pro125Leu	rs1026818842	missense variant	-	NC_000017.11:g.35608236C>T	TOPMed,gnomAD
AP2B1	P63010	p.Leu126Phe	rs142074091	missense variant	-	NC_000017.11:g.35608238C>T	1000Genomes
AP2B1	P63010	p.Arg127His	rs1249030356	missense variant	-	NC_000017.11:g.35608242G>A	TOPMed
AP2B1	P63010	p.Arg127Cys	rs1400984122	missense variant	-	NC_000017.11:g.35608241C>T	TOPMed,gnomAD
AP2B1	P63010	p.Pro135Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608265C>T	NCI-TCGA
AP2B1	P63010	p.Arg138Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608275G>A	NCI-TCGA
AP2B1	P63010	p.Ala142Thr	rs1280937938	missense variant	-	NC_000017.11:g.35608286G>A	TOPMed
AP2B1	P63010	p.Val145Leu	rs773576208	missense variant	-	NC_000017.11:g.35608295G>T	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Val145Leu	rs773576208	missense variant	-	NC_000017.11:g.35608295G>C	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Val145Met	rs773576208	missense variant	-	NC_000017.11:g.35608295G>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ala146Thr	rs1307498129	missense variant	-	NC_000017.11:g.35608298G>A	gnomAD
AP2B1	P63010	p.His149Arg	rs1387061715	missense variant	-	NC_000017.11:g.35608308A>G	gnomAD
AP2B1	P63010	p.Asp150Gly	rs1265299702	missense variant	-	NC_000017.11:g.35608311A>G	TOPMed,gnomAD
AP2B1	P63010	p.Asp150Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608311A>T	NCI-TCGA
AP2B1	P63010	p.Ile151Thr	rs751440438	missense variant	-	NC_000017.11:g.35608314T>C	ExAC,gnomAD
AP2B1	P63010	p.Ile151Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608313A>G	NCI-TCGA
AP2B1	P63010	p.Asn152Ser	rs534967720	missense variant	-	NC_000017.11:g.35608317A>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Val156Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608329T>C	NCI-TCGA
AP2B1	P63010	p.Gln159His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608339G>T	NCI-TCGA
AP2B1	P63010	p.Ser164Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608353C>A	NCI-TCGA
AP2B1	P63010	p.Leu165Val	rs963954568	missense variant	-	NC_000017.11:g.35608355C>G	TOPMed,gnomAD
AP2B1	P63010	p.Arg166Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608358C>T	NCI-TCGA
AP2B1	P63010	p.Ile169Val	rs750326789	missense variant	-	NC_000017.11:g.35608367A>G	ExAC,gnomAD
AP2B1	P63010	p.Asp171Gly	rs1320904577	missense variant	-	NC_000017.11:g.35608374A>G	TOPMed,gnomAD
AP2B1	P63010	p.Pro174Ser	rs1367805694	missense variant	-	NC_000017.11:g.35608382C>T	gnomAD
AP2B1	P63010	p.Met175Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35608385A>G	NCI-TCGA
AP2B1	P63010	p.Val176Leu	rs781759240	missense variant	-	NC_000017.11:g.35624397G>C	ExAC,gnomAD
AP2B1	P63010	p.Ala180Val	rs1479558274	missense variant	-	NC_000017.11:g.35624410C>T	gnomAD
AP2B1	P63010	p.Val181Ile	rs180860333	missense variant	-	NC_000017.11:g.35624412G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ala182Thr	rs775788814	missense variant	-	NC_000017.11:g.35624415G>A	ExAC,gnomAD
AP2B1	P63010	p.Ala182Val	rs763030515	missense variant	-	NC_000017.11:g.35624416C>T	ExAC,gnomAD
AP2B1	P63010	p.Glu186Lys	rs1412742494	missense variant	-	NC_000017.11:g.35624427G>A	TOPMed
AP2B1	P63010	p.Ile187Met	rs1396803580	missense variant	-	NC_000017.11:g.35624432C>G	TOPMed
AP2B1	P63010	p.Ser188Thr	rs1467176849	missense variant	-	NC_000017.11:g.35624434G>C	gnomAD
AP2B1	P63010	p.Ser194Gly	rs771928156	missense variant	-	NC_000017.11:g.35624451A>G	ExAC,gnomAD
AP2B1	P63010	p.Asn195Ser	rs760436832	missense variant	-	NC_000017.11:g.35624455A>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asn195Ile	rs760436832	missense variant	-	NC_000017.11:g.35624455A>T	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asn195Asp	rs772846719	missense variant	-	NC_000017.11:g.35624454A>G	ExAC,gnomAD
AP2B1	P63010	p.Ile204Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35624482T>A	NCI-TCGA
AP2B1	P63010	p.Ala210Gly	rs764666800	missense variant	-	NC_000017.11:g.35624500C>G	ExAC,gnomAD
AP2B1	P63010	p.Ile220Val	rs751918992	missense variant	-	NC_000017.11:g.35624529A>G	ExAC,gnomAD
AP2B1	P63010	p.Ile222Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35624535A>T	NCI-TCGA
AP2B1	P63010	p.Ile222Val	rs757684565	missense variant	-	NC_000017.11:g.35624535A>G	ExAC,gnomAD
AP2B1	P63010	p.Asp224His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35624541G>C	NCI-TCGA
AP2B1	P63010	p.Asn228Ser	rs1254967077	missense variant	-	NC_000017.11:g.35624554A>G	TOPMed
AP2B1	P63010	p.Asn230Ser	rs1248410459	missense variant	-	NC_000017.11:g.35624560A>G	TOPMed,gnomAD
AP2B1	P63010	p.Asp234Val	rs927997306	missense variant	-	NC_000017.11:g.35624572A>T	TOPMed,gnomAD
AP2B1	P63010	p.Arg235Gln	rs779952468	missense variant	-	NC_000017.11:g.35624575G>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Arg235Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35624574C>T	NCI-TCGA
AP2B1	P63010	p.Glu236Gly	rs749559407	missense variant	-	NC_000017.11:g.35624578A>G	ExAC,gnomAD
AP2B1	P63010	p.Gln238Arg	rs1159595674	missense variant	-	NC_000017.11:g.35624584A>G	gnomAD
AP2B1	P63010	p.Gln238His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35624585G>C	NCI-TCGA
AP2B1	P63010	p.Ser239Ile	rs375608434	missense variant	-	NC_000017.11:g.35624587G>T	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ile240Val	rs368666592	missense variant	-	NC_000017.11:g.35626622A>G	ESP,ExAC,gnomAD
AP2B1	P63010	p.Arg243Gln	rs775484633	missense variant	-	NC_000017.11:g.35626632G>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Pro246Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35626640C>A	NCI-TCGA
AP2B1	P63010	p.Ala259Val	rs1271504512	missense variant	-	NC_000017.11:g.35626680C>T	gnomAD
AP2B1	P63010	p.Glu268Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35626706G>C	NCI-TCGA
AP2B1	P63010	p.Pro271Ser	rs1170787476	missense variant	-	NC_000017.11:g.35626715C>T	gnomAD
AP2B1	P63010	p.Asp273Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35626721G>A	NCI-TCGA
AP2B1	P63010	p.Asn278Asp	rs1335913117	missense variant	-	NC_000017.11:g.35626736A>G	TOPMed,gnomAD
AP2B1	P63010	p.Met279Val	rs1294246855	missense variant	-	NC_000017.11:g.35626739A>G	TOPMed
AP2B1	P63010	p.Leu280Val	rs1048534213	missense variant	-	NC_000017.11:g.35626742C>G	TOPMed
AP2B1	P63010	p.Lys282Asn	rs1359473343	missense variant	-	NC_000017.11:g.35626750G>T	gnomAD
AP2B1	P63010	p.Leu284Ser	rs371706064	missense variant	-	NC_000017.11:g.35626755T>C	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ala285Ser	rs1300943228	missense variant	-	NC_000017.11:g.35626757G>T	TOPMed,gnomAD
AP2B1	P63010	p.Pro286Leu	rs1307364903	missense variant	-	NC_000017.11:g.35626761C>T	gnomAD
AP2B1	P63010	p.Val289Ile	rs750861510	missense variant	-	NC_000017.11:g.35626769G>A	ExAC,gnomAD
AP2B1	P63010	p.Thr290Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35626773C>A	NCI-TCGA
AP2B1	P63010	p.Leu292Pro	rs761083349	missense variant	-	NC_000017.11:g.35626779T>C	ExAC,gnomAD
AP2B1	P63010	p.Ser293Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35626782C>T	NCI-TCGA
AP2B1	P63010	p.Glu297Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35626793G>A	NCI-TCGA
AP2B1	P63010	p.Ala302Ser	rs1040111727	missense variant	-	NC_000017.11:g.35626808G>T	TOPMed
AP2B1	P63010	p.Leu308Val	rs1208472809	missense variant	-	NC_000017.11:g.35626826T>G	gnomAD
AP2B1	P63010	p.Gln311His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35626837G>C	NCI-TCGA
AP2B1	P63010	p.Gln319Ter	rs1279319092	stop gained	-	NC_000017.11:g.35627401C>T	TOPMed
AP2B1	P63010	p.Gln319Arg	rs768667063	missense variant	-	NC_000017.11:g.35627402A>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Glu320Ala	rs778942254	missense variant	-	NC_000017.11:g.35627405A>C	ExAC,gnomAD
AP2B1	P63010	p.Ile321Met	rs1166701445	missense variant	-	NC_000017.11:g.35627409C>G	gnomAD
AP2B1	P63010	p.Val326Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627422G>T	NCI-TCGA
AP2B1	P63010	p.Lys327Asn	rs1382707690	missense variant	-	NC_000017.11:g.35627427G>C	gnomAD
AP2B1	P63010	p.Asn329Ser	rs771708181	missense variant	-	NC_000017.11:g.35627432A>G	ExAC
AP2B1	P63010	p.Tyr333Cys	rs373073122	missense variant	-	NC_000017.11:g.35627444A>G	ESP,TOPMed,gnomAD
AP2B1	P63010	p.Tyr333Phe	rs373073122	missense variant	-	NC_000017.11:g.35627444A>T	ESP,TOPMed,gnomAD
AP2B1	P63010	p.Asp340Gly	rs201391290	missense variant	-	NC_000017.11:g.35627465A>G	1000Genomes
AP2B1	P63010	p.Ile341Val	rs1284430403	missense variant	-	NC_000017.11:g.35627467A>G	gnomAD
AP2B1	P63010	p.Ile341Thr	rs200611678	missense variant	-	NC_000017.11:g.35627468T>C	1000Genomes
AP2B1	P63010	p.Met342Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627470A>G	NCI-TCGA
AP2B1	P63010	p.Arg344Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627476C>T	NCI-TCGA
AP2B1	P63010	p.Arg344Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627476C>G	NCI-TCGA
AP2B1	P63010	p.Gln348His	rs765747346	missense variant	-	NC_000017.11:g.35627490A>T	ExAC,gnomAD
AP2B1	P63010	p.Ala349Ser	rs775909100	missense variant	-	NC_000017.11:g.35627491G>T	ExAC,gnomAD
AP2B1	P63010	p.Ala349Asp	rs763086165	missense variant	-	NC_000017.11:g.35627492C>A	ExAC,gnomAD
AP2B1	P63010	p.Ala349Thr	rs775909100	missense variant	-	NC_000017.11:g.35627491G>A	ExAC,gnomAD
AP2B1	P63010	p.Ala349Val	rs763086165	missense variant	-	NC_000017.11:g.35627492C>T	ExAC,gnomAD
AP2B1	P63010	p.Asn350Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627494A>G	NCI-TCGA
AP2B1	P63010	p.Asn350Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627495A>C	NCI-TCGA
AP2B1	P63010	p.Ile351Val	rs757468439	missense variant	-	NC_000017.11:g.35627497A>G	ExAC,gnomAD
AP2B1	P63010	p.Ala352Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627501C>T	NCI-TCGA
AP2B1	P63010	p.Gln353His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627505G>T	NCI-TCGA
AP2B1	P63010	p.Val354Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627631G>A	NCI-TCGA
AP2B1	P63010	p.Ala356Thr	rs1286379240	missense variant	-	NC_000017.11:g.35627637G>A	TOPMed
AP2B1	P63010	p.Arg371Ter	rs1404738425	stop gained	-	NC_000017.11:g.35627682C>T	TOPMed,gnomAD
AP2B1	P63010	p.Ala381Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35627713C>T	NCI-TCGA
AP2B1	P63010	p.Glu389Asp	rs1301553798	missense variant	-	NC_000017.11:g.35636352G>C	TOPMed
AP2B1	P63010	p.Arg390His	rs1374169851	missense variant	-	NC_000017.11:g.35636354G>A	gnomAD
AP2B1	P63010	p.Arg390Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35636353C>T	NCI-TCGA
AP2B1	P63010	p.Thr401Ile	rs780964830	missense variant	-	NC_000017.11:g.35636387C>T	ExAC,gnomAD
AP2B1	P63010	p.Asn404Thr	rs932574938	missense variant	-	NC_000017.11:g.35636396A>C	TOPMed
AP2B1	P63010	p.Asn404Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35636397T>G	NCI-TCGA
AP2B1	P63010	p.Ile417Val	rs912726039	missense variant	-	NC_000017.11:g.35636434A>G	TOPMed
AP2B1	P63010	p.Arg419His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35636441G>A	NCI-TCGA
AP2B1	P63010	p.Lys424Arg	rs769169713	missense variant	-	NC_000017.11:g.35636456A>G	ExAC,gnomAD
AP2B1	P63010	p.Tyr425Phe	rs1309818925	missense variant	-	NC_000017.11:g.35639597A>T	gnomAD
AP2B1	P63010	p.Tyr425Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35639597A>G	NCI-TCGA
AP2B1	P63010	p.Ile428Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35639607C>G	NCI-TCGA
AP2B1	P63010	p.Thr431Ala	rs964975378	missense variant	-	NC_000017.11:g.35639614A>G	TOPMed
AP2B1	P63010	p.Glu434Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35639625G>T	NCI-TCGA
AP2B1	P63010	p.Arg445Gly	rs779631571	missense variant	-	NC_000017.11:g.35639656C>G	ExAC,gnomAD
AP2B1	P63010	p.Arg445Ter	rs779631571	stop gained	-	NC_000017.11:g.35639656C>T	ExAC,gnomAD
AP2B1	P63010	p.Ala446Ser	rs749663219	missense variant	-	NC_000017.11:g.35639659G>T	ExAC,gnomAD
AP2B1	P63010	p.Gly453Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35639680G>A	NCI-TCGA
AP2B1	P63010	p.Glu457Gly	rs1179054320	missense variant	-	NC_000017.11:g.35639693A>G	TOPMed,gnomAD
AP2B1	P63010	p.Glu457Lys	rs779536706	missense variant	-	NC_000017.11:g.35639692G>A	ExAC,gnomAD
AP2B1	P63010	p.Ala462Thr	rs1156280579	missense variant	-	NC_000017.11:g.35639707G>A	gnomAD
AP2B1	P63010	p.Glu464Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35639713G>A	NCI-TCGA
AP2B1	P63010	p.Leu465Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35639718A>C	NCI-TCGA
AP2B1	P63010	p.Glu467Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35639722G>C	NCI-TCGA
AP2B1	P63010	p.His474Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35639743C>T	NCI-TCGA
AP2B1	P63010	p.Ser477Asn	rs773459580	missense variant	-	NC_000017.11:g.35639753G>A	ExAC,gnomAD
AP2B1	P63010	p.Ser477Gly	rs976327787	missense variant	-	NC_000017.11:g.35639752A>G	gnomAD
AP2B1	P63010	p.Ile488Val	rs777052577	missense variant	-	NC_000017.11:g.35641901A>G	ExAC
AP2B1	P63010	p.Pro496Leu	rs774044212	missense variant	-	NC_000017.11:g.35641926C>T	ExAC,gnomAD
AP2B1	P63010	p.Pro496Ser	rs768536257	missense variant	-	NC_000017.11:g.35641925C>T	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ser497Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35641929C>T	NCI-TCGA
AP2B1	P63010	p.Glu498Gly	rs761618935	missense variant	-	NC_000017.11:g.35641932A>G	ExAC,gnomAD
AP2B1	P63010	p.Gln500Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35641938A>G	NCI-TCGA
AP2B1	P63010	p.Glu501Asp	rs1277882629	missense variant	-	NC_000017.11:g.35641942G>T	TOPMed
AP2B1	P63010	p.Glu501Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35641940G>A	NCI-TCGA
AP2B1	P63010	p.Val503Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35641946G>A	NCI-TCGA
AP2B1	P63010	p.Gln505Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.35641952C>T	NCI-TCGA
AP2B1	P63010	p.Leu507Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35641960G>C	NCI-TCGA
AP2B1	P63010	p.Ser514Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650534C>A	NCI-TCGA
AP2B1	P63010	p.Pro517Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650543C>G	NCI-TCGA
AP2B1	P63010	p.Pro517Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650543C>T	NCI-TCGA
AP2B1	P63010	p.Leu519Val	rs776030560	missense variant	-	NC_000017.11:g.35650548C>G	ExAC
AP2B1	P63010	p.Arg520Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.35650551C>T	NCI-TCGA
AP2B1	P63010	p.Asp521Glu	rs1275687805	missense variant	-	NC_000017.11:g.35650556C>A	gnomAD
AP2B1	P63010	p.Arg522Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650557C>T	NCI-TCGA
AP2B1	P63010	p.Gly523AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.35650558G>-	NCI-TCGA
AP2B1	P63010	p.Tyr524Cys	rs759031459	missense variant	-	NC_000017.11:g.35650564A>G	ExAC,gnomAD
AP2B1	P63010	p.Arg528His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650576G>A	NCI-TCGA
AP2B1	P63010	p.Leu529Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650578C>A	NCI-TCGA
AP2B1	P63010	p.Thr532Ala	rs1355124123	missense variant	-	NC_000017.11:g.35650587A>G	TOPMed,gnomAD
AP2B1	P63010	p.Pro534Leu	rs758748077	missense variant	-	NC_000017.11:g.35650594C>T	ExAC,gnomAD
AP2B1	P63010	p.Lys538Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.35650603_35650604insA	NCI-TCGA
AP2B1	P63010	p.Glu539Gly	rs752151532	missense variant	-	NC_000017.11:g.35650609A>G	ExAC,gnomAD
AP2B1	P63010	p.Glu539Ter	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650608G>T	NCI-TCGA
AP2B1	P63010	p.Val540Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650611G>A	NCI-TCGA
AP2B1	P63010	p.Val541Ala	rs199884245	missense variant	-	NC_000017.11:g.35650615T>C	1000Genomes
AP2B1	P63010	p.Ser549Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650638T>C	NCI-TCGA
AP2B1	P63010	p.Ile555Leu	rs777580316	missense variant	-	NC_000017.11:g.35650656A>C	ExAC
AP2B1	P63010	p.Asp561Tyr	rs775055212	missense variant	-	NC_000017.11:g.35650674G>T	ExAC,gnomAD
AP2B1	P63010	p.Leu563Gln	rs762662078	missense variant	-	NC_000017.11:g.35650681T>A	ExAC,gnomAD
AP2B1	P63010	p.His566Asn	rs1238895393	missense variant	-	NC_000017.11:g.35650689C>A	gnomAD
AP2B1	P63010	p.Ile567Val	rs763799850	missense variant	-	NC_000017.11:g.35650692A>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Gly568Asp	rs751992403	missense variant	-	NC_000017.11:g.35650696G>A	ExAC,gnomAD
AP2B1	P63010	p.Ser569Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650699C>A	NCI-TCGA
AP2B1	P63010	p.Leu570Ser	rs762208856	missense variant	-	NC_000017.11:g.35650702T>C	ExAC,gnomAD
AP2B1	P63010	p.Leu570Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650703G>T	NCI-TCGA
AP2B1	P63010	p.Ser572Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650708C>T	NCI-TCGA
AP2B1	P63010	p.Tyr574Cys	rs1273410678	missense variant	-	NC_000017.11:g.35650714A>G	gnomAD
AP2B1	P63010	p.His575Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650716C>T	NCI-TCGA
AP2B1	P63010	p.Pro577Leu	rs750935310	missense variant	-	NC_000017.11:g.35650723C>T	ExAC
AP2B1	P63010	p.Asn579Ser	rs377040347	missense variant	-	NC_000017.11:g.35650729A>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ser585Gly	rs369933211	missense variant	-	NC_000017.11:g.35650746A>G	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.His586Arg	rs753824400	missense variant	-	NC_000017.11:g.35650750A>G	ExAC,gnomAD
AP2B1	P63010	p.Gly587Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650753G>A	NCI-TCGA
AP2B1	P63010	p.Ile588Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650755A>G	NCI-TCGA
AP2B1	P63010	p.Arg590His	rs1180949069	missense variant	-	NC_000017.11:g.35650762G>A	gnomAD
AP2B1	P63010	p.Ile595Phe	rs755219613	missense variant	-	NC_000017.11:g.35650776A>T	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ile595Val	rs755219613	missense variant	-	NC_000017.11:g.35650776A>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Gly598Arg	rs1473787168	missense variant	-	NC_000017.11:g.35650785G>A	gnomAD
AP2B1	P63010	p.Gly598Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35650786G>A	NCI-TCGA
AP2B1	P63010	p.Asp601Glu	rs774080002	missense variant	-	NC_000017.11:g.35657605T>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asp601Asn	rs1188713319	missense variant	-	NC_000017.11:g.35657603G>A	gnomAD
AP2B1	P63010	p.Ala602Val	rs1342134014	missense variant	-	NC_000017.11:g.35657607C>T	TOPMed
AP2B1	P63010	p.Gly603Ser	rs1196026752	missense variant	-	NC_000017.11:g.35657609G>A	gnomAD
AP2B1	P63010	p.Asp604Gly	rs1252435583	missense variant	-	NC_000017.11:g.35657613A>G	TOPMed
AP2B1	P63010	p.Ser605Thr	rs1373867619	missense variant	-	NC_000017.11:g.35657616G>C	gnomAD
AP2B1	P63010	p.Pro606Thr	rs1166586737	missense variant	-	NC_000017.11:g.35657618C>A	gnomAD
AP2B1	P63010	p.Val607Leu	rs1404939760	missense variant	-	NC_000017.11:g.35657621G>C	gnomAD
AP2B1	P63010	p.Thr611Pro	rs762331462	missense variant	-	NC_000017.11:g.35657633A>C	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Thr611Ala	rs762331462	missense variant	-	NC_000017.11:g.35657633A>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Thr613Lys	rs761350585	missense variant	-	NC_000017.11:g.35657640C>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Thr613Ala	rs146369983	missense variant	-	NC_000017.11:g.35657639A>G	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Thr613Met	rs761350585	missense variant	-	NC_000017.11:g.35657640C>T	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asn614Lys	rs754986816	missense variant	-	NC_000017.11:g.35657644C>A	ExAC,gnomAD
AP2B1	P63010	p.Leu615Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35657646T>C	NCI-TCGA
AP2B1	P63010	p.Leu615Val	rs951303237	missense variant	-	NC_000017.11:g.35657645C>G	TOPMed
AP2B1	P63010	p.Glu616Gln	rs1226419185	missense variant	-	NC_000017.11:g.35657648G>C	TOPMed,gnomAD
AP2B1	P63010	p.Gln617Glu	rs1349809467	missense variant	-	NC_000017.11:g.35657651C>G	gnomAD
AP2B1	P63010	p.Gln617His	rs1211451001	missense variant	-	NC_000017.11:g.35657653G>C	gnomAD
AP2B1	P63010	p.Gln617Arg	rs200482175	missense variant	-	NC_000017.11:g.35657652A>G	1000Genomes
AP2B1	P63010	p.Gln619Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.35657657C>T	NCI-TCGA
AP2B1	P63010	p.Gln619Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35657657C>A	NCI-TCGA
AP2B1	P63010	p.Ser623Phe	rs765514137	missense variant	-	NC_000017.11:g.35657670C>T	ExAC,gnomAD
AP2B1	P63010	p.Leu628Ile	rs1262688733	missense variant	-	NC_000017.11:g.35657684C>A	TOPMed,gnomAD
AP2B1	P63010	p.Gly637Ser	rs1337313119	missense variant	-	NC_000017.11:g.35657711G>A	gnomAD
AP2B1	P63010	p.Pro638Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35657715C>T	NCI-TCGA
AP2B1	P63010	p.Pro639Ala	rs1457297243	missense variant	-	NC_000017.11:g.35657717C>G	TOPMed
AP2B1	P63010	p.Asn641Ser	rs765060464	missense variant	-	NC_000017.11:g.35657724A>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Val642Ala	rs1173490738	missense variant	-	NC_000017.11:g.35657727T>C	gnomAD
AP2B1	P63010	p.Pro643Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35657729C>A	NCI-TCGA
AP2B1	P63010	p.Pro643Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35657729C>T	NCI-TCGA
AP2B1	P63010	p.Gln644Ter	rs867138054	stop gained	-	NC_000017.11:g.35657732C>T	TOPMed
AP2B1	P63010	p.Gln644His	rs773149136	missense variant	-	NC_000017.11:g.35657734G>C	TOPMed,gnomAD
AP2B1	P63010	p.Ser646Pro	rs1432315410	missense variant	-	NC_000017.11:g.35657738T>C	gnomAD
AP2B1	P63010	p.Met648Val	rs779795416	missense variant	-	NC_000017.11:g.35657744A>G	ExAC,gnomAD
AP2B1	P63010	p.Met648Thr	rs1179516303	missense variant	-	NC_000017.11:g.35657745T>C	TOPMed
AP2B1	P63010	p.Met648Ile	rs1439064991	missense variant	-	NC_000017.11:g.35657746G>A	TOPMed
AP2B1	P63010	p.Met650Leu	rs748809472	missense variant	-	NC_000017.11:g.35657750A>T	ExAC,gnomAD
AP2B1	P63010	p.Leu655Pro	rs1293032524	missense variant	-	NC_000017.11:g.35657766T>C	gnomAD
AP2B1	P63010	p.Gly659Ala	rs1209773428	missense variant	-	NC_000017.11:g.35657778G>C	TOPMed
AP2B1	P63010	p.Asp661Gly	rs774202744	missense variant	-	NC_000017.11:g.35657784A>G	ExAC,gnomAD
AP2B1	P63010	p.Val664Ala	rs1156650265	missense variant	-	NC_000017.11:g.35671755T>C	TOPMed
AP2B1	P63010	p.Gln666His	rs757846710	missense variant	-	NC_000017.11:g.35671762A>C	ExAC,gnomAD
AP2B1	P63010	p.Thr676Ile	rs1447002263	missense variant	-	NC_000017.11:g.35671791C>T	TOPMed
AP2B1	P63010	p.Thr676Ala	rs746621449	missense variant	-	NC_000017.11:g.35671790A>G	ExAC,gnomAD
AP2B1	P63010	p.Ala678Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35671796G>A	NCI-TCGA
AP2B1	P63010	p.Pro681His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35671806C>A	NCI-TCGA
AP2B1	P63010	p.Pro681Ala	rs1207351504	missense variant	-	NC_000017.11:g.35671805C>G	TOPMed
AP2B1	P63010	p.Pro683Ser	rs1476214337	missense variant	-	NC_000017.11:g.35671811C>T	gnomAD
AP2B1	P63010	p.Ala684Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35671815C>A	NCI-TCGA
AP2B1	P63010	p.Val685Met	rs1186868935	missense variant	-	NC_000017.11:g.35671817G>A	gnomAD
AP2B1	P63010	p.Val685Ala	rs146573316	missense variant	-	NC_000017.11:g.35671818T>C	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ser687Gly	rs770296519	missense variant	-	NC_000017.11:g.35671823A>G	ExAC,gnomAD
AP2B1	P63010	p.Asn691Ser	rs1175369422	missense variant	-	NC_000017.11:g.35671836A>G	gnomAD
AP2B1	P63010	p.Asp692Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35671838G>A	NCI-TCGA
AP2B1	P63010	p.Phe694Tyr	rs775906970	missense variant	-	NC_000017.11:g.35671845T>A	ExAC,gnomAD
AP2B1	P63010	p.Phe694Ser	rs775906970	missense variant	-	NC_000017.11:g.35671845T>C	ExAC,gnomAD
AP2B1	P63010	p.Thr698Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35671857C>A	NCI-TCGA
AP2B1	P63010	p.Gly699Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35671859G>A	NCI-TCGA
AP2B1	P63010	p.Ile700Val	rs774678846	missense variant	-	NC_000017.11:g.35671862A>G	ExAC,gnomAD
AP2B1	P63010	p.Gly701Ser	rs1431690845	missense variant	-	NC_000017.11:g.35671865G>A	gnomAD
AP2B1	P63010	p.Gly701Val	rs1269861869	missense variant	-	NC_000017.11:g.35671866G>T	gnomAD
AP2B1	P63010	p.Ala703Val	rs1236976524	missense variant	-	NC_000017.11:g.35671872C>T	gnomAD
AP2B1	P63010	p.Pro704Ala	rs1262855720	missense variant	-	NC_000017.11:g.35671874C>G	TOPMed
AP2B1	P63010	p.Gly705Asp	rs140959021	missense variant	-	NC_000017.11:g.35671878G>A	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Val708Leu	rs753705561	missense variant	-	NC_000017.11:g.35671886G>T	ExAC,gnomAD
AP2B1	P63010	p.Val708Met	rs753705561	missense variant	-	NC_000017.11:g.35671886G>A	ExAC,gnomAD
AP2B1	P63010	p.Ala709Val	rs145680535	missense variant	-	NC_000017.11:g.35671890C>T	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ala709Ser	rs1430084302	missense variant	-	NC_000017.11:g.35671889G>T	TOPMed
AP2B1	P63010	p.Pro710Leu	rs752568925	missense variant	-	NC_000017.11:g.35671893C>T	ExAC,gnomAD
AP2B1	P63010	p.Ala712Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35671899C>T	NCI-TCGA
AP2B1	P63010	p.Val713Ile	rs764045264	missense variant	-	NC_000017.11:g.35674176G>A	ExAC,gnomAD
AP2B1	P63010	p.Trp714Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35674180G>C	NCI-TCGA
AP2B1	P63010	p.Gly727Arg	rs1473879610	missense variant	-	NC_000017.11:g.35674218G>A	TOPMed
AP2B1	P63010	p.Thr728Ser	rs756781595	missense variant	-	NC_000017.11:g.35674221A>T	gnomAD
AP2B1	P63010	p.Thr728Ala	rs756781595	missense variant	-	NC_000017.11:g.35674221A>G	gnomAD
AP2B1	P63010	p.Thr730Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35674228C>A	NCI-TCGA
AP2B1	P63010	p.Thr730Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35674227A>T	NCI-TCGA
AP2B1	P63010	p.Thr730Ala	rs147829807	missense variant	-	NC_000017.11:g.35674227A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Arg732His	rs141309963	missense variant	-	NC_000017.11:g.35674234G>A	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Arg732Cys	rs746818676	missense variant	-	NC_000017.11:g.35674233C>T	gnomAD
AP2B1	P63010	p.His735Pro	rs1438210350	missense variant	-	NC_000017.11:g.35674243A>C	TOPMed
AP2B1	P63010	p.Ile736Val	rs755459569	missense variant	-	NC_000017.11:g.35674245A>G	ExAC,gnomAD
AP2B1	P63010	p.Tyr737Cys	rs748308397	missense variant	-	NC_000017.11:g.35674249A>G	ExAC,gnomAD
AP2B1	P63010	p.Met738Val	rs1273429846	missense variant	-	NC_000017.11:g.35674251A>G	TOPMed,gnomAD
AP2B1	P63010	p.Met740Val	rs772268190	missense variant	-	NC_000017.11:g.35674257A>G	ExAC,gnomAD
AP2B1	P63010	p.Met740Thr	rs773622642	missense variant	-	NC_000017.11:g.35674258T>C	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asn741Lys	rs1275022140	missense variant	-	NC_000017.11:g.35674262C>G	gnomAD
AP2B1	P63010	p.Phe742Leu	rs988536829	missense variant	-	NC_000017.11:g.35674265C>A	TOPMed
AP2B1	P63010	p.Ala746Pro	rs1181148994	missense variant	-	NC_000017.11:g.35674275G>C	gnomAD
AP2B1	P63010	p.His749Tyr	rs1227247249	missense variant	-	NC_000017.11:g.35674284C>T	TOPMed
AP2B1	P63010	p.Met750Val	rs1249652103	missense variant	-	NC_000017.11:g.35674287A>G	gnomAD
AP2B1	P63010	p.Ile755Val	rs945947297	missense variant	-	NC_000017.11:g.35674302A>G	TOPMed,gnomAD
AP2B1	P63010	p.Asn760Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35674319T>A	NCI-TCGA
AP2B1	P63010	p.Asn760IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.35674314A>-	NCI-TCGA
AP2B1	P63010	p.Ile765Met	rs948626862	missense variant	-	NC_000017.11:g.35682707C>G	TOPMed,gnomAD
AP2B1	P63010	p.Ala771Ser	rs186795042	missense variant	-	NC_000017.11:g.35682723G>T	1000Genomes
AP2B1	P63010	p.Ala771Gly	rs1349199501	missense variant	-	NC_000017.11:g.35682724C>G	TOPMed
AP2B1	P63010	p.Pro775Ser	rs779350508	missense variant	-	NC_000017.11:g.35682735C>T	ExAC,gnomAD
AP2B1	P63010	p.Met777Thr	rs1167196588	missense variant	-	NC_000017.11:g.35682742T>C	gnomAD
AP2B1	P63010	p.Ser781Gly	rs748647573	missense variant	-	NC_000017.11:g.35682753A>G	ExAC,gnomAD
AP2B1	P63010	p.Val784Ile	rs758595766	missense variant	-	NC_000017.11:g.35682762G>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ser785Cys	rs1393883963	missense variant	-	NC_000017.11:g.35682766C>G	gnomAD
AP2B1	P63010	p.Pro787Leu	rs928540729	missense variant	-	NC_000017.11:g.35682772C>T	TOPMed
AP2B1	P63010	p.Pro787Thr	rs778030836	missense variant	-	NC_000017.11:g.35682771C>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Leu788Val	rs747037239	missense variant	-	NC_000017.11:g.35682774C>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asn789Ser	rs1295278120	missense variant	-	NC_000017.11:g.35682778A>G	gnomAD
AP2B1	P63010	p.Thr790Ser	rs1350051560	missense variant	-	NC_000017.11:g.35682781C>G	TOPMed,gnomAD
AP2B1	P63010	p.Leu791Phe	rs1251662865	missense variant	-	NC_000017.11:g.35682785G>T	TOPMed
AP2B1	P63010	p.Pro793Arg	rs1235102935	missense variant	-	NC_000017.11:g.35682790C>G	gnomAD
AP2B1	P63010	p.Met795Ile	rs1482321754	missense variant	-	NC_000017.11:g.35682797G>A	gnomAD
AP2B1	P63010	p.Met797Thr	rs781410234	missense variant	-	NC_000017.11:g.35682802T>C	ExAC,gnomAD
AP2B1	P63010	p.Met797Val	rs373853532	missense variant	-	NC_000017.11:g.35682801A>G	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asn802Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35682817A>G	NCI-TCGA
AP2B1	P63010	p.Ala806Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35709228C>T	NCI-TCGA
AP2B1	P63010	p.Val807Met	rs1555586246	missense variant	-	NC_000017.11:g.35709230G>A	gnomAD
AP2B1	P63010	p.Cys818Gly	rs1488321166	missense variant	-	NC_000017.11:g.35709263T>G	TOPMed
AP2B1	P63010	p.Cys818Ser	rs1488321166	missense variant	-	NC_000017.11:g.35709263T>A	TOPMed
AP2B1	P63010	p.Leu819Val	rs782263404	missense variant	-	NC_000017.11:g.35709266C>G	ExAC,gnomAD
AP2B1	P63010	p.Pro821Ser	rs782384569	missense variant	-	NC_000017.11:g.35709272C>T	ExAC,gnomAD
AP2B1	P63010	p.Pro821Gln	rs781979941	missense variant	-	NC_000017.11:g.35709273C>A	ExAC,gnomAD
AP2B1	P63010	p.Leu825Phe	rs782084650	missense variant	-	NC_000017.11:g.35709284C>T	ExAC,gnomAD
AP2B1	P63010	p.Val827Ile	rs782165005	missense variant	-	NC_000017.11:g.35709290G>A	ExAC,gnomAD
AP2B1	P63010	p.Glu828Gln	rs1555586321	missense variant	-	NC_000017.11:g.35709293G>C	gnomAD
AP2B1	P63010	p.Asp829Val	rs1555586325	missense variant	-	NC_000017.11:g.35709297A>T	gnomAD
AP2B1	P63010	p.Lys831Arg	rs1322825448	missense variant	-	NC_000017.11:g.35709303A>G	TOPMed
AP2B1	P63010	p.Lys842Glu	rs1555586854	missense variant	-	NC_000017.11:g.35710260A>G	gnomAD
AP2B1	P63010	p.Asp843Gly	rs1555586863	missense variant	-	NC_000017.11:g.35710264A>G	gnomAD
AP2B1	P63010	p.Asn848Ser	rs782017586	missense variant	-	NC_000017.11:g.35710279A>G	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Glu849Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.35710281G>T	NCI-TCGA
AP2B1	P63010	p.Leu850His	rs368490814	missense variant	-	NC_000017.11:g.35710285T>A	ESP,ExAC,gnomAD
AP2B1	P63010	p.His858Arg	rs1555586892	missense variant	-	NC_000017.11:g.35710309A>G	gnomAD
AP2B1	P63010	p.Ala861Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35710318C>A	NCI-TCGA
AP2B1	P63010	p.Asp862Ala	rs1555590364	missense variant	-	NC_000017.11:g.35717195A>C	gnomAD
AP2B1	P63010	p.Thr863Ala	rs781999602	missense variant	-	NC_000017.11:g.35717197A>G	TOPMed
AP2B1	P63010	p.Ser865Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35717204C>T	NCI-TCGA
AP2B1	P63010	p.Ser865Ala	rs782623891	missense variant	-	NC_000017.11:g.35717203T>G	ExAC,gnomAD
AP2B1	P63010	p.Ser866Asn	rs782225194	missense variant	-	NC_000017.11:g.35717207G>A	ExAC,gnomAD
AP2B1	P63010	p.Leu868Met	rs141653744	missense variant	-	NC_000017.11:g.35717212T>A	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asn871Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35717222A>G	NCI-TCGA
AP2B1	P63010	p.Asn872Lys	rs782240837	missense variant	-	NC_000017.11:g.35717226T>G	ExAC,gnomAD
AP2B1	P63010	p.Asn872Ser	rs150087874	missense variant	-	NC_000017.11:g.35717225A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Thr875Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35717233A>G	NCI-TCGA
AP2B1	P63010	p.Ile876Val	rs1555590435	missense variant	-	NC_000017.11:g.35717236A>G	gnomAD
AP2B1	P63010	p.Gly883Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35717258G>T	NCI-TCGA
AP2B1	P63010	p.Leu893Phe	rs138358422	missense variant	-	NC_000017.11:g.35717287C>T	ESP,ExAC,gnomAD
AP2B1	P63010	p.Thr894Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35717291C>A	NCI-TCGA
AP2B1	P63010	p.Gly896Ser	rs781828320	missense variant	-	NC_000017.11:g.35717296G>A	ExAC,gnomAD
AP2B1	P63010	p.Ile897Val	rs1278397475	missense variant	-	NC_000017.11:g.35717299A>G	TOPMed
AP2B1	P63010	p.Ile899Thr	rs1232350606	missense variant	-	NC_000017.11:g.35717306T>C	TOPMed
AP2B1	P63010	p.Leu900Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.35717309T>A	NCI-TCGA
AP2B1	P63010	p.Glu902Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35717314G>A	NCI-TCGA
AP2B1	P63010	p.Arg904Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35717321G>T	NCI-TCGA
AP2B1	P63010	p.Arg904Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35717321G>C	NCI-TCGA
AP2B1	P63010	p.Arg904Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.35717320C>T	NCI-TCGA
AP2B1	P63010	p.Ile905Met	rs782691619	missense variant	-	NC_000017.11:g.35717325C>G	ExAC,gnomAD
AP2B1	P63010	p.Pro910Thr	rs1053750128	missense variant	-	NC_000017.11:g.35717338C>A	TOPMed
AP2B1	P63010	p.Pro910Ala	rs1053750128	missense variant	-	NC_000017.11:g.35717338C>G	TOPMed
AP2B1	P63010	p.Asn911Ser	rs782541289	missense variant	-	NC_000017.11:g.35717342A>G	ExAC,gnomAD
AP2B1	P63010	p.Ala920Ser	rs1361613421	missense variant	-	NC_000017.11:g.35723643G>T	TOPMed,gnomAD
AP2B1	P63010	p.Pro921Leu	rs1160808279	missense variant	-	NC_000017.11:g.35723647C>T	TOPMed
AP2B1	P63010	p.Val923Ile	rs782471762	missense variant	-	NC_000017.11:g.35723652G>A	ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Tyr928His	rs1191455992	missense variant	-	NC_000017.11:g.35723667T>C	TOPMed,gnomAD
AP2B1	P63010	p.Tyr928Cys	rs149437317	missense variant	-	NC_000017.11:g.35723668A>G	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Gln929Arg	rs1555593998	missense variant	-	NC_000017.11:g.35723671A>G	gnomAD
AP2B1	P63010	p.Asp932Asn	rs146388051	missense variant	-	NC_000017.11:g.35723679G>A	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Asp932His	rs146388051	missense variant	-	NC_000017.11:g.35723679G>C	ESP,ExAC,TOPMed,gnomAD
AP2B1	P63010	p.Ter938Gln	rs1354606177	stop lost	-	NC_000017.11:g.35723697T>C	TOPMed
SUMO1	P63165	p.Ser2Cys	rs142025459	missense variant	-	NC_000002.12:g.202238447G>C	ESP,ExAC,TOPMed,gnomAD
SUMO1	P63165	p.Asp3Glu	rs1183133930	missense variant	-	NC_000002.12:g.202238443G>C	TOPMed
SUMO1	P63165	p.Asp3Ala	rs1360385299	missense variant	-	NC_000002.12:g.202238444T>G	gnomAD
SUMO1	P63165	p.Gln4His	rs1246545175	missense variant	-	NC_000002.12:g.202238440C>A	TOPMed
SUMO1	P63165	p.Glu5ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.202220106C>-	NCI-TCGA
SUMO1	P63165	p.Ala6Val	rs1466085744	missense variant	-	NC_000002.12:g.202220102G>A	gnomAD
SUMO1	P63165	p.Lys7Gln	rs762396174	missense variant	-	NC_000002.12:g.202220100T>G	ExAC,gnomAD
SUMO1	P63165	p.Lys7Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202220100T>C	NCI-TCGA
SUMO1	P63165	p.Pro8Leu	rs1258744066	missense variant	-	NC_000002.12:g.202220096G>A	gnomAD
SUMO1	P63165	p.Ser9Ter	COSM4833179	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.202220093G>C	NCI-TCGA Cosmic
SUMO1	P63165	p.Leu13Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202220080C>A	NCI-TCGA
SUMO1	P63165	p.Asp15IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.202220076C>-	NCI-TCGA
SUMO1	P63165	p.Lys16Asn	COSM1134537	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202220071C>G	NCI-TCGA Cosmic
SUMO1	P63165	p.Gly19Val	rs769332103	missense variant	-	NC_000002.12:g.202220063C>A	ExAC,gnomAD
SUMO1	P63165	p.Gly19Asp	rs769332103	missense variant	-	NC_000002.12:g.202220063C>T	ExAC,gnomAD
SUMO1	P63165	p.Glu20Asp	COSM4583094	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202220059T>G	NCI-TCGA Cosmic
SUMO1	P63165	p.Glu20Asp	rs1279066314	missense variant	-	NC_000002.12:g.202220059T>A	gnomAD
SUMO1	P63165	p.Lys23Thr	rs952329386	missense variant	-	NC_000002.12:g.202220051T>G	TOPMed
SUMO1	P63165	p.Gly28Arg	rs1286710471	missense variant	-	NC_000002.12:g.202220037C>T	gnomAD
SUMO1	P63165	p.Asp30His	COSM1134536	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202214434C>G	NCI-TCGA Cosmic
SUMO1	P63165	p.Thr41Ile	rs139098088	missense variant	-	NC_000002.12:g.202214400G>A	ESP,TOPMed
SUMO1	P63165	p.Lys45Glu	rs1235297281	missense variant	-	NC_000002.12:g.202214389T>C	gnomAD
SUMO1	P63165	p.Glu49Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.202214377C>A	NCI-TCGA
SUMO1	P63165	p.Ser50Ter	COSM1482659	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.202214373G>T	NCI-TCGA Cosmic
SUMO1	P63165	p.Gln55Glu	rs759040827	missense variant	-	NC_000002.12:g.202214359G>C	ExAC,gnomAD
SUMO1	P63165	p.Gly56Ser	COSM5917805	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202210806C>T	NCI-TCGA Cosmic
SUMO1	P63165	p.Val57Ile	rs1293611839	missense variant	-	NC_000002.12:g.202210803C>T	gnomAD
SUMO1	P63165	p.Pro58Leu	COSM3576399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.202210799G>A	NCI-TCGA Cosmic
SUMO1	P63165	p.Met59Leu	rs757518063	missense variant	-	NC_000002.12:g.202210797T>A	ExAC,TOPMed,gnomAD
SUMO1	P63165	p.Met59Val	rs757518063	missense variant	-	NC_000002.12:g.202210797T>C	ExAC,TOPMed,gnomAD
SUMO1	P63165	p.Leu62Phe	rs751409542	missense variant	-	NC_000002.12:g.202210788G>A	ExAC,gnomAD
SUMO1	P63165	p.Arg70Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202210763C>A	NCI-TCGA
SUMO1	P63165	p.Arg70Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202210764T>C	NCI-TCGA
SUMO1	P63165	p.Asp73Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202210755C>T	NCI-TCGA
SUMO1	P63165	p.Asn74Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202210752T>C	NCI-TCGA
SUMO1	P63165	p.His75Arg	rs758112346	missense variant	-	NC_000002.12:g.202210748T>C	ExAC,gnomAD
SUMO1	P63165	p.Glu79Ter	COSM1591707	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.202210737C>A	NCI-TCGA Cosmic
SUMO1	P63165	p.Gly81GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.202207317C>-	NCI-TCGA
SUMO1	P63165	p.Met82Val	rs753349557	missense variant	-	NC_000002.12:g.202207315T>C	ExAC,gnomAD
SUMO1	P63165	p.Glu85Asp	rs1384477352	missense variant	-	NC_000002.12:g.202207304T>A	gnomAD
SUMO1	P63165	p.Glu89Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.202207294C>G	NCI-TCGA
SUMO1	P63165	p.Gln92Pro	rs765931862	missense variant	-	NC_000002.12:g.202207284T>G	ExAC,TOPMed,gnomAD
SUMO1	P63165	p.Thr95Met	rs1320311472	missense variant	-	NC_000002.12:g.202207275G>A	gnomAD
SUMO1	P63165	p.Gly97Asp	rs1163101525	missense variant	-	NC_000002.12:g.202207269C>T	gnomAD
SUMO1	P63165	p.Ser99Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.202207263G>C	NCI-TCGA
SUMO1	P63165	p.Thr100Ala	rs767056612	missense variant	-	NC_000002.12:g.202207261T>C	ExAC,gnomAD
SUMO1	P63165	p.Thr100Ile	rs1373778471	missense variant	-	NC_000002.12:g.202207260G>A	gnomAD
SUMO1	P63165	p.Ter102Gln	rs763400377	stop lost	-	NC_000002.12:g.202207255A>G	ExAC,gnomAD
SUMO1	P63165	p.Ser2Cys	rs142025459	missense variant	-	NC_000002.12:g.202238447G>C	ESP,ExAC,TOPMed,gnomAD
SUMO1	P63165	p.Asp3Glu	rs1183133930	missense variant	-	NC_000002.12:g.202238443G>C	TOPMed
SUMO1	P63165	p.Asp3Ala	rs1360385299	missense variant	-	NC_000002.12:g.202238444T>G	gnomAD
SUMO1	P63165	p.Gln4His	rs1246545175	missense variant	-	NC_000002.12:g.202238440C>A	TOPMed
SUMO1	P63165	p.Ala6Val	rs1466085744	missense variant	-	NC_000002.12:g.202220102G>A	gnomAD
SUMO1	P63165	p.Lys7Gln	rs762396174	missense variant	-	NC_000002.12:g.202220100T>G	ExAC,gnomAD
SUMO1	P63165	p.Pro8Leu	rs1258744066	missense variant	-	NC_000002.12:g.202220096G>A	gnomAD
SUMO1	P63165	p.Gly19Val	rs769332103	missense variant	-	NC_000002.12:g.202220063C>A	ExAC,gnomAD
SUMO1	P63165	p.Gly19Asp	rs769332103	missense variant	-	NC_000002.12:g.202220063C>T	ExAC,gnomAD
SUMO1	P63165	p.Glu20Asp	rs1279066314	missense variant	-	NC_000002.12:g.202220059T>A	gnomAD
SUMO1	P63165	p.Lys23Thr	rs952329386	missense variant	-	NC_000002.12:g.202220051T>G	TOPMed
SUMO1	P63165	p.Gly28Arg	rs1286710471	missense variant	-	NC_000002.12:g.202220037C>T	gnomAD
SUMO1	P63165	p.Thr41Ile	rs139098088	missense variant	-	NC_000002.12:g.202214400G>A	ESP,TOPMed
SUMO1	P63165	p.Lys45Glu	rs1235297281	missense variant	-	NC_000002.12:g.202214389T>C	gnomAD
SUMO1	P63165	p.Gln55Glu	rs759040827	missense variant	-	NC_000002.12:g.202214359G>C	ExAC,gnomAD
SUMO1	P63165	p.Val57Ile	rs1293611839	missense variant	-	NC_000002.12:g.202210803C>T	gnomAD
SUMO1	P63165	p.Met59Val	rs757518063	missense variant	-	NC_000002.12:g.202210797T>C	ExAC,TOPMed,gnomAD
SUMO1	P63165	p.Met59Leu	rs757518063	missense variant	-	NC_000002.12:g.202210797T>A	ExAC,TOPMed,gnomAD
SUMO1	P63165	p.Leu62Phe	rs751409542	missense variant	-	NC_000002.12:g.202210788G>A	ExAC,gnomAD
SUMO1	P63165	p.His75Arg	rs758112346	missense variant	-	NC_000002.12:g.202210748T>C	ExAC,gnomAD
SUMO1	P63165	p.Met82Val	rs753349557	missense variant	-	NC_000002.12:g.202207315T>C	ExAC,gnomAD
SUMO1	P63165	p.Glu85Asp	rs1384477352	missense variant	-	NC_000002.12:g.202207304T>A	gnomAD
SUMO1	P63165	p.Gln92Pro	rs765931862	missense variant	-	NC_000002.12:g.202207284T>G	ExAC,TOPMed,gnomAD
SUMO1	P63165	p.Thr95Met	rs1320311472	missense variant	-	NC_000002.12:g.202207275G>A	gnomAD
SUMO1	P63165	p.Gly97Asp	rs1163101525	missense variant	-	NC_000002.12:g.202207269C>T	gnomAD
SUMO1	P63165	p.Thr100Ile	rs1373778471	missense variant	-	NC_000002.12:g.202207260G>A	gnomAD
SUMO1	P63165	p.Thr100Ala	rs767056612	missense variant	-	NC_000002.12:g.202207261T>C	ExAC,gnomAD
SUMO1	P63165	p.Ter102Gln	rs763400377	stop lost	-	NC_000002.12:g.202207255A>G	ExAC,gnomAD
RPL38	P63173	p.Arg3Gly	rs370477439	missense variant	-	NC_000017.11:g.74204133C>G	ESP,TOPMed
RPL38	P63173	p.Ile5Met	rs780455460	missense variant	-	NC_000017.11:g.74204141T>G	ExAC,gnomAD
RPL38	P63173	p.Phe11Leu	rs768453680	missense variant	-	NC_000017.11:g.74204159C>A	ExAC,gnomAD
RPL38	P63173	p.Leu13Phe	rs1475507258	missense variant	-	NC_000017.11:g.74204163C>T	TOPMed,gnomAD
RPL38	P63173	p.Lys18Arg	rs770849321	missense variant	-	NC_000017.11:g.74204179A>G	ExAC,gnomAD
RPL38	P63173	p.Asp19GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.74204182_74204183insGATCC	NCI-TCGA
RPL38	P63173	p.Lys24Arg	rs1354265641	missense variant	-	NC_000017.11:g.74209193A>G	TOPMed
RPL38	P63173	p.Asn28Ser	rs753553262	missense variant	-	NC_000017.11:g.74209205A>G	ExAC,gnomAD
RPL38	P63173	p.Asp30Asn	rs1488214406	missense variant	-	NC_000017.11:g.74209210G>A	gnomAD
RPL38	P63173	p.Asn31Lys	rs193162687	missense variant	-	NC_000017.11:g.74209215C>G	1000Genomes,ExAC,TOPMed,gnomAD
RPL38	P63173	p.Val32Met	rs949286588	missense variant	-	NC_000017.11:g.74209216G>A	TOPMed,gnomAD
RPL38	P63173	p.Val32Ala	rs1357345239	missense variant	-	NC_000017.11:g.74209217T>C	TOPMed
RPL38	P63173	p.Lys33Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.74209220A>C	NCI-TCGA
RPL38	P63173	p.Phe34Leu	rs1347240859	missense variant	-	NC_000017.11:g.74209224T>G	gnomAD
RPL38	P63173	p.Val36Ala	rs1203917058	missense variant	-	NC_000017.11:g.74209229T>C	gnomAD
RPL38	P63173	p.Arg37Ter	COSM983944	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.74209231C>T	NCI-TCGA Cosmic
RPL38	P63173	p.Ser39Gly	rs1399242429	missense variant	-	NC_000017.11:g.74209237A>G	TOPMed
RPL38	P63173	p.Tyr41Cys	rs1366077330	missense variant	-	NC_000017.11:g.74209244A>G	gnomAD
RPL38	P63173	p.Gly63ArgPheSerTerUnkUnk	rs758386023	frameshift	-	NC_000017.11:g.74209302_74209303insC	NCI-TCGA,NCI-TCGA Cosmic
RPL38	P63173	p.Leu64Phe	rs1334766176	missense variant	-	NC_000017.11:g.74209808G>C	TOPMed
RPL38	P63173	p.Ala65Ser	rs1336975339	missense variant	-	NC_000017.11:g.74209809G>T	TOPMed,gnomAD
RPL38	P63173	p.Val66Met	rs1336308786	missense variant	-	NC_000017.11:g.74209812G>A	gnomAD
RPL38	P63173	p.Arg3Gly	rs370477439	missense variant	-	NC_000017.11:g.74204133C>G	ESP,TOPMed
RPL38	P63173	p.Ile5Met	rs780455460	missense variant	-	NC_000017.11:g.74204141T>G	ExAC,gnomAD
RPL38	P63173	p.Phe11Leu	rs768453680	missense variant	-	NC_000017.11:g.74204159C>A	ExAC,gnomAD
RPL38	P63173	p.Leu13Phe	rs1475507258	missense variant	-	NC_000017.11:g.74204163C>T	TOPMed,gnomAD
RPL38	P63173	p.Lys18Arg	rs770849321	missense variant	-	NC_000017.11:g.74204179A>G	ExAC,gnomAD
RPL38	P63173	p.Lys24Arg	rs1354265641	missense variant	-	NC_000017.11:g.74209193A>G	TOPMed
RPL38	P63173	p.Asn28Ser	rs753553262	missense variant	-	NC_000017.11:g.74209205A>G	ExAC,gnomAD
RPL38	P63173	p.Asp30Asn	rs1488214406	missense variant	-	NC_000017.11:g.74209210G>A	gnomAD
RPL38	P63173	p.Asn31Lys	rs193162687	missense variant	-	NC_000017.11:g.74209215C>G	1000Genomes,ExAC,TOPMed,gnomAD
RPL38	P63173	p.Val32Met	rs949286588	missense variant	-	NC_000017.11:g.74209216G>A	TOPMed,gnomAD
RPL38	P63173	p.Val32Ala	rs1357345239	missense variant	-	NC_000017.11:g.74209217T>C	TOPMed
RPL38	P63173	p.Phe34Leu	rs1347240859	missense variant	-	NC_000017.11:g.74209224T>G	gnomAD
RPL38	P63173	p.Val36Ala	rs1203917058	missense variant	-	NC_000017.11:g.74209229T>C	gnomAD
RPL38	P63173	p.Ser39Gly	rs1399242429	missense variant	-	NC_000017.11:g.74209237A>G	TOPMed
RPL38	P63173	p.Tyr41Cys	rs1366077330	missense variant	-	NC_000017.11:g.74209244A>G	gnomAD
RPL38	P63173	p.Leu64Phe	rs1334766176	missense variant	-	NC_000017.11:g.74209808G>C	TOPMed
RPL38	P63173	p.Ala65Ser	rs1336975339	missense variant	-	NC_000017.11:g.74209809G>T	TOPMed,gnomAD
RPL38	P63173	p.Val66Met	rs1336308786	missense variant	-	NC_000017.11:g.74209812G>A	gnomAD
RPL38	P63173	p.Arg3Gly	rs370477439	missense variant	-	NC_000017.11:g.74204133C>G	ESP,TOPMed
RPL38	P63173	p.Ile5Met	rs780455460	missense variant	-	NC_000017.11:g.74204141T>G	ExAC,gnomAD
RPL38	P63173	p.Phe11Leu	rs768453680	missense variant	-	NC_000017.11:g.74204159C>A	ExAC,gnomAD
RPL38	P63173	p.Leu13Phe	rs1475507258	missense variant	-	NC_000017.11:g.74204163C>T	TOPMed,gnomAD
RPL38	P63173	p.Lys18Arg	rs770849321	missense variant	-	NC_000017.11:g.74204179A>G	ExAC,gnomAD
RPL38	P63173	p.Lys24Arg	rs1354265641	missense variant	-	NC_000017.11:g.74209193A>G	TOPMed
RPL38	P63173	p.Asn28Ser	rs753553262	missense variant	-	NC_000017.11:g.74209205A>G	ExAC,gnomAD
RPL38	P63173	p.Asp30Asn	rs1488214406	missense variant	-	NC_000017.11:g.74209210G>A	gnomAD
RPL38	P63173	p.Asn31Lys	rs193162687	missense variant	-	NC_000017.11:g.74209215C>G	1000Genomes,ExAC,TOPMed,gnomAD
RPL38	P63173	p.Val32Met	rs949286588	missense variant	-	NC_000017.11:g.74209216G>A	TOPMed,gnomAD
RPL38	P63173	p.Val32Ala	rs1357345239	missense variant	-	NC_000017.11:g.74209217T>C	TOPMed
RPL38	P63173	p.Phe34Leu	rs1347240859	missense variant	-	NC_000017.11:g.74209224T>G	gnomAD
RPL38	P63173	p.Val36Ala	rs1203917058	missense variant	-	NC_000017.11:g.74209229T>C	gnomAD
RPL38	P63173	p.Ser39Gly	rs1399242429	missense variant	-	NC_000017.11:g.74209237A>G	TOPMed
RPL38	P63173	p.Tyr41Cys	rs1366077330	missense variant	-	NC_000017.11:g.74209244A>G	gnomAD
RPL38	P63173	p.Leu64Phe	rs1334766176	missense variant	-	NC_000017.11:g.74209808G>C	TOPMed
RPL38	P63173	p.Ala65Ser	rs1336975339	missense variant	-	NC_000017.11:g.74209809G>T	TOPMed,gnomAD
RPL38	P63173	p.Val66Met	rs1336308786	missense variant	-	NC_000017.11:g.74209812G>A	gnomAD
KCNJ2	P63252	p.Met1Thr	RCV000170969	missense variant	-	NC_000017.11:g.70175041T>C	ClinVar
KCNJ2	P63252	p.Gly2Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175044G>A	NCI-TCGA
KCNJ2	P63252	p.Val4Met	rs756248184	missense variant	-	NC_000017.11:g.70175049G>A	ExAC,gnomAD
KCNJ2	P63252	p.Arg5Ter	rs1042485	stop gained	-	NC_000017.11:g.70175052C>T	NCI-TCGA
KCNJ2	P63252	p.Arg5Gly	rs1042485	missense variant	-	NC_000017.11:g.70175052C>G	gnomAD
KCNJ2	P63252	p.Arg5Ter	rs1042485	stop gained	-	NC_000017.11:g.70175052C>T	gnomAD
KCNJ2	P63252	p.Arg5Gln	rs764311511	missense variant	-	NC_000017.11:g.70175053G>A	ExAC,gnomAD
KCNJ2	P63252	p.Thr6Ile	rs754091630	missense variant	-	NC_000017.11:g.70175056C>T	ExAC,gnomAD
KCNJ2	P63252	p.Arg8His	rs140090605	missense variant	-	NC_000017.11:g.70175062G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg8Cys	rs529080615	missense variant	-	NC_000017.11:g.70175061C>T	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg8Cys	rs529080615	missense variant	-	NC_000017.11:g.70175061C>T	NCI-TCGA
KCNJ2	P63252	p.Ser10Asn	rs1187051577	missense variant	-	NC_000017.11:g.70175068G>A	TOPMed,gnomAD
KCNJ2	P63252	p.Ser10Gly	rs1252050049	missense variant	-	NC_000017.11:g.70175067A>G	TOPMed
KCNJ2	P63252	p.Val12Ile	COSM983652	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175073G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Ser13Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175076T>A	NCI-TCGA
KCNJ2	P63252	p.Ser14Leu	COSM1303267	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175080C>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Glu15Asp	COSM4894348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175084A>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Glu15Ter	COSM3796013	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.70175082G>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Glu16Gln	rs1203915572	missense variant	-	NC_000017.11:g.70175085G>C	TOPMed
KCNJ2	P63252	p.Glu16Asp	rs1470684052	missense variant	-	NC_000017.11:g.70175087A>C	TOPMed,gnomAD
KCNJ2	P63252	p.Glu16Gly	rs758776917	missense variant	-	NC_000017.11:g.70175086A>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp17Asn	RCV000656202	missense variant	Wolff-Parkinson-White pattern	NC_000017.11:g.70175088G>A	ClinVar
KCNJ2	P63252	p.Asp17His	rs1331601602	missense variant	-	NC_000017.11:g.70175088G>C	gnomAD
KCNJ2	P63252	p.Asp17Gly	rs780600986	missense variant	-	NC_000017.11:g.70175089A>G	ExAC,gnomAD
KCNJ2	P63252	p.Asp17Asn	rs1331601602	missense variant	-	NC_000017.11:g.70175088G>A	gnomAD
KCNJ2	P63252	p.Gly18Ser	rs947488726	missense variant	-	NC_000017.11:g.70175091G>A	TOPMed,gnomAD
KCNJ2	P63252	p.Gly18Ser	RCV000644778	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175091G>A	ClinVar
KCNJ2	P63252	p.Gly18Cys	COSM1521864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175091G>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Gly18Ser	rs947488726	missense variant	-	NC_000017.11:g.70175091G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Met24Thr	rs1332633060	missense variant	-	NC_000017.11:g.70175110T>C	TOPMed
KCNJ2	P63252	p.Met24Val	rs1441314140	missense variant	-	NC_000017.11:g.70175109A>G	TOPMed
KCNJ2	P63252	p.Ala25Pro	rs1316063007	missense variant	-	NC_000017.11:g.70175112G>C	TOPMed
KCNJ2	P63252	p.Ala27Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175118G>T	NCI-TCGA
KCNJ2	P63252	p.Asn28Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175122A>G	NCI-TCGA
KCNJ2	P63252	p.Gly33Arg	rs375727662	missense variant	-	NC_000017.11:g.70175136G>C	ESP,TOPMed,gnomAD
KCNJ2	P63252	p.Gly33Arg	rs375727662	missense variant	-	NC_000017.11:g.70175136G>A	ESP,TOPMed,gnomAD
KCNJ2	P63252	p.Lys34Asn	rs1476737505	missense variant	-	NC_000017.11:g.70175141G>C	gnomAD
KCNJ2	P63252	p.Lys34Arg	rs772815957	missense variant	-	NC_000017.11:g.70175140A>G	ExAC,gnomAD
KCNJ2	P63252	p.Lys34Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175139A>G	NCI-TCGA
KCNJ2	P63252	p.Ser35Thr	rs762818989	missense variant	-	NC_000017.11:g.70175143G>C	ExAC,gnomAD
KCNJ2	P63252	p.Ser35Gly	rs1192608882	missense variant	-	NC_000017.11:g.70175142A>G	gnomAD
KCNJ2	P63252	p.Ser35Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175144T>G	NCI-TCGA
KCNJ2	P63252	p.Thr39Ile	rs1367740803	missense variant	-	NC_000017.11:g.70175155C>T	gnomAD
KCNJ2	P63252	p.Arg40Gln	RCV000795350	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Gln	RCV000347359	missense variant	Familial atrial fibrillation	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Gln	RCV000489623	missense variant	-	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Pro	RCV000473222	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175158G>C	ClinVar
KCNJ2	P63252	p.Arg40Pro	rs766143485	missense variant	-	NC_000017.11:g.70175158G>C	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg40Gln	rs766143485	missense variant	-	NC_000017.11:g.70175158G>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg40Ter	rs786205811	stop gained	-	NC_000017.11:g.70175157C>T	TOPMed,gnomAD
KCNJ2	P63252	p.Arg40Gln	RCV000308982	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Gln	RCV000406881	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Ter	RCV000170970	nonsense	-	NC_000017.11:g.70175157C>T	ClinVar
KCNJ2	P63252	p.Cys43Arg	rs1170369013	missense variant	-	NC_000017.11:g.70175166T>C	gnomAD
KCNJ2	P63252	p.Cys43Tyr	rs774424161	missense variant	-	NC_000017.11:g.70175167G>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Cys43Phe	rs774424161	missense variant	-	NC_000017.11:g.70175167G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg46His	rs1271319212	missense variant	-	NC_000017.11:g.70175176G>A	gnomAD
KCNJ2	P63252	p.Arg46Cys	COSM5030540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175175C>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Gly52Val	RCV000627123	missense variant	-	NC_000017.11:g.70175194G>T	ClinVar
KCNJ2	P63252	p.Gly52Val	rs1555603894	missense variant	-	NC_000017.11:g.70175194G>T	-
KCNJ2	P63252	p.Gly52Val	rs1555603894	missense variant	-	NC_000017.11:g.70175194G>T	NCI-TCGA
KCNJ2	P63252	p.Cys54Phe	rs199473650	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175200G>T	UniProt,dbSNP
KCNJ2	P63252	p.Cys54Phe	VAR_065861	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175200G>T	UniProt
KCNJ2	P63252	p.Cys54Phe	RCV000058293	missense variant	Familial periodic paralysis	NC_000017.11:g.70175200G>T	ClinVar
KCNJ2	P63252	p.Asn55Ile	rs1277940062	missense variant	-	NC_000017.11:g.70175203A>T	gnomAD
KCNJ2	P63252	p.Val56Ile	rs1264595509	missense variant	-	NC_000017.11:g.70175205G>A	TOPMed
KCNJ2	P63252	p.Val56Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175206T>C	NCI-TCGA
KCNJ2	P63252	p.Gln57Arg	rs1273518954	missense variant	-	NC_000017.11:g.70175209A>G	gnomAD
KCNJ2	P63252	p.Asn60Ser	rs1484750176	missense variant	-	NC_000017.11:g.70175218A>G	TOPMed
KCNJ2	P63252	p.Glu63Ter	COSM6147434	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.70175226G>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Glu63Gly	COSM1303268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175227A>G	NCI-TCGA Cosmic
KCNJ2	P63252	p.Arg67Gln	RCV000058295	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175239G>A	ClinVar
KCNJ2	P63252	p.Arg67Trp	rs104894580	missense variant	-	NC_000017.11:g.70175238C>T	ExAC,gnomAD
KCNJ2	P63252	p.Arg67Gln	rs199473368	missense variant	-	NC_000017.11:g.70175239G>A	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Arg67Trp	rs104894580	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175238C>T	UniProt,dbSNP
KCNJ2	P63252	p.Arg67Trp	VAR_017851	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175238C>T	UniProt
KCNJ2	P63252	p.Arg67Gln	rs199473368	missense variant	-	NC_000017.11:g.70175239G>A	ExAC,TOPMed
KCNJ2	P63252	p.Arg67Trp	rs104894580	missense variant	-	NC_000017.11:g.70175238C>T	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Arg67Trp	RCV000058294	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175238C>T	ClinVar
KCNJ2	P63252	p.Tyr68Asp	rs199473651	missense variant	-	NC_000017.11:g.70175241T>G	-
KCNJ2	P63252	p.Tyr68Asp	RCV000058296	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175241T>G	ClinVar
KCNJ2	P63252	p.Ala70Thr	rs375605948	missense variant	-	NC_000017.11:g.70175247G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ala70Ser	rs375605948	missense variant	-	NC_000017.11:g.70175247G>T	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ala70Ser	RCV000459178	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175247G>T	ClinVar
KCNJ2	P63252	p.Ala70Thr	RCV000170973	missense variant	-	NC_000017.11:g.70175247G>A	ClinVar
KCNJ2	P63252	p.Ala70Thr	rs375605948	missense variant	-	NC_000017.11:g.70175247G>A	NCI-TCGA
KCNJ2	P63252	p.Asp71Val	rs104894575	missense variant	-	NC_000017.11:g.70175251A>T	-
KCNJ2	P63252	p.Asp71Val	rs104894575	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175251A>T	UniProt,dbSNP
KCNJ2	P63252	p.Asp71Val	VAR_017852	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175251A>T	UniProt
KCNJ2	P63252	p.Asp71Asn	rs199473369	missense variant	-	NC_000017.11:g.70175250G>A	-
KCNJ2	P63252	p.Asp71His	rs199473369	missense variant	-	NC_000017.11:g.70175250G>C	-
KCNJ2	P63252	p.Asp71Asn	RCV000058297	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175250G>A	ClinVar
KCNJ2	P63252	p.Asp71Val	RCV000058298	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175251A>T	ClinVar
KCNJ2	P63252	p.Asp71His	RCV000208360	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175250G>C	ClinVar
KCNJ2	P63252	p.Ile72Met	rs780636530	missense variant	-	NC_000017.11:g.70175255C>G	ExAC,gnomAD
KCNJ2	P63252	p.Ile72Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175254T>C	NCI-TCGA
KCNJ2	P63252	p.Phe73Leu	COSM5789675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175258C>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Thr74Ala	rs199473652	missense variant	-	NC_000017.11:g.70175259A>G	-
KCNJ2	P63252	p.Thr74Ala	RCV000058299	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175259A>G	ClinVar
KCNJ2	P63252	p.Thr75Met	RCV000644783	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175263C>T	ClinVar
KCNJ2	P63252	p.Thr75Ala	RCV000058300	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175262A>G	ClinVar
KCNJ2	P63252	p.Thr75Met	rs104894585	missense variant	-	NC_000017.11:g.70175263C>T	-
KCNJ2	P63252	p.Thr75Arg	rs104894585	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175263C>G	UniProt,dbSNP
KCNJ2	P63252	p.Thr75Arg	VAR_065862	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175263C>G	UniProt
KCNJ2	P63252	p.Thr75Arg	rs104894585	missense variant	-	NC_000017.11:g.70175263C>G	-
KCNJ2	P63252	p.Thr75Lys	COSM707435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175263C>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Thr75Met	RCV000170993	missense variant	-	NC_000017.11:g.70175263C>T	ClinVar
KCNJ2	P63252	p.Thr75Ala	rs199473370	missense variant	-	NC_000017.11:g.70175262A>G	-
KCNJ2	P63252	p.Thr75Arg	RCV000009483	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175263C>G	ClinVar
KCNJ2	P63252	p.Cys76Gly	rs786205812	missense variant	-	NC_000017.11:g.70175265T>G	-
KCNJ2	P63252	p.Cys76Gly	RCV000471851	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175265T>G	ClinVar
KCNJ2	P63252	p.Asp78Gly	RCV000157272	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175272A>G	ClinVar
KCNJ2	P63252	p.Asp78Tyr	RCV000058303	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175271G>T	ClinVar
KCNJ2	P63252	p.Asp78Gly	rs199473371	missense variant	-	NC_000017.11:g.70175272A>G	-
KCNJ2	P63252	p.Asp78Gly	rs199473371	missense variant	-	NC_000017.11:g.70175272A>G	NCI-TCGA
KCNJ2	P63252	p.Asp78Tyr	rs199473372	missense variant	-	NC_000017.11:g.70175271G>T	-
KCNJ2	P63252	p.Ile79Thr	RCV000170975	missense variant	-	NC_000017.11:g.70175275T>C	ClinVar
KCNJ2	P63252	p.Ile79Thr	rs786205813	missense variant	-	NC_000017.11:g.70175275T>C	TOPMed
KCNJ2	P63252	p.Arg80His	COSM983655	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175278G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Arg80Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175277C>T	NCI-TCGA
KCNJ2	P63252	p.Arg82Trp	RCV000678808	missense variant	-	NC_000017.11:g.70175283C>T	ClinVar
KCNJ2	P63252	p.Arg82Gln	rs199473653	missense variant	-	NC_000017.11:g.70175284G>A	NCI-TCGA
KCNJ2	P63252	p.Arg82Trp	rs199473373	missense variant	-	NC_000017.11:g.70175283C>T	NCI-TCGA
KCNJ2	P63252	p.Arg82Trp	rs199473373	missense variant	-	NC_000017.11:g.70175283C>T	-
KCNJ2	P63252	p.Arg82Gln	rs199473653	missense variant	-	NC_000017.11:g.70175284G>A	-
KCNJ2	P63252	p.Arg82Trp	RCV000535797	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175283C>T	ClinVar
KCNJ2	P63252	p.Arg82Gln	RCV000619060	missense variant	-	NC_000017.11:g.70175284G>A	ClinVar
KCNJ2	P63252	p.Met84Thr	rs1415820562	missense variant	-	NC_000017.11:g.70175290T>C	TOPMed
KCNJ2	P63252	p.Val86Phe	rs786205814	missense variant	-	NC_000017.11:g.70175295G>T	TOPMed
KCNJ2	P63252	p.Val86Phe	RCV000170977	missense variant	-	NC_000017.11:g.70175295G>T	ClinVar
KCNJ2	P63252	p.Ile87Val	rs748958117	missense variant	-	NC_000017.11:g.70175298A>G	ExAC,gnomAD
KCNJ2	P63252	p.Ala91Val	rs538004651	missense variant	-	NC_000017.11:g.70175311C>T	1000Genomes,ExAC,gnomAD
KCNJ2	P63252	p.Val93Ile	RCV000148540	missense variant	Atrial fibrillation	NC_000017.11:g.70175316G>A	ClinVar
KCNJ2	P63252	p.Val93Ile	RCV000544361	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175316G>A	ClinVar
KCNJ2	P63252	p.Val93Ile	RCV000023029	missense variant	Atrial fibrillation, familial, 9 (ATFB9)	NC_000017.11:g.70175316G>A	ClinVar
KCNJ2	P63252	p.Val93Ala	rs1025972346	missense variant	-	NC_000017.11:g.70175317T>C	TOPMed
KCNJ2	P63252	p.Val93Ile	rs147750704	missense variant	Atrial fibrillation, familial, 9 (atfb9)	NC_000017.11:g.70175316G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Val93Ile	rs147750704	missense variant	Atrial fibrillation, familial, 9 (ATFB9)	NC_000017.11:g.70175316G>A	UniProt,dbSNP
KCNJ2	P63252	p.Val93Ile	VAR_065863	missense variant	Atrial fibrillation, familial, 9 (ATFB9)	NC_000017.11:g.70175316G>A	UniProt
KCNJ2	P63252	p.Val93Ile	rs147750704	missense variant	-	NC_000017.11:g.70175316G>A	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Ser95Thr	rs1256902994	missense variant	-	NC_000017.11:g.70175322T>A	TOPMed
KCNJ2	P63252	p.Ser95_Phe98del	VAR_017853	inframe_deletion	Long QT syndrome 7 (LQT7) [MIM:170390]	-	UniProt
KCNJ2	P63252	p.Leu97Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175328C>G	NCI-TCGA
KCNJ2	P63252	p.Phe98Ile	rs79650811	missense variant	-	NC_000017.11:g.70175331T>A	ExAC,gnomAD
KCNJ2	P63252	p.Phe98Val	rs79650811	missense variant	-	NC_000017.11:g.70175331T>G	ExAC,gnomAD
KCNJ2	P63252	p.Phe99LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.70175331T>-	NCI-TCGA
KCNJ2	P63252	p.Cys101Arg	rs199473374	missense variant	-	NC_000017.11:g.70175340T>C	-
KCNJ2	P63252	p.Cys101Phe	rs750630010	missense variant	-	NC_000017.11:g.70175341G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Cys101Phe	RCV000522222	missense variant	-	NC_000017.11:g.70175341G>T	ClinVar
KCNJ2	P63252	p.Cys101Arg	RCV000058308	missense variant	Ventricular tachycardia	NC_000017.11:g.70175340T>C	ClinVar
KCNJ2	P63252	p.Val102Met	rs766678770	missense variant	-	NC_000017.11:g.70175343G>A	ExAC,gnomAD
KCNJ2	P63252	p.Trp104Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.70175350G>A	NCI-TCGA
KCNJ2	P63252	p.Leu105Met	rs751948464	missense variant	-	NC_000017.11:g.70175352T>A	ExAC,gnomAD
KCNJ2	P63252	p.Ile106Thr	rs1239684338	missense variant	-	NC_000017.11:g.70175356T>C	gnomAD
KCNJ2	P63252	p.Leu108Val	rs371331394	missense variant	-	NC_000017.11:g.70175361C>G	NCI-TCGA Cosmic
KCNJ2	P63252	p.Leu108Val	rs371331394	missense variant	-	NC_000017.11:g.70175361C>G	ESP,TOPMed,gnomAD
KCNJ2	P63252	p.Leu109Phe	rs1207805290	missense variant	-	NC_000017.11:g.70175364C>T	gnomAD
KCNJ2	P63252	p.Leu109Pro	RCV000685772	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175365T>C	ClinVar
KCNJ2	P63252	p.His110Arg	rs781674038	missense variant	-	NC_000017.11:g.70175368A>G	ExAC,gnomAD
KCNJ2	P63252	p.His110Tyr	rs786205815	missense variant	-	NC_000017.11:g.70175367C>T	-
KCNJ2	P63252	p.His110Tyr	RCV000170979	missense variant	-	NC_000017.11:g.70175367C>T	ClinVar
KCNJ2	P63252	p.Asp114Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175379G>T	NCI-TCGA
KCNJ2	P63252	p.Asp114Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175379G>A	NCI-TCGA
KCNJ2	P63252	p.Ala115Val	RCV000402714	missense variant	Familial atrial fibrillation	NC_000017.11:g.70175383C>T	ClinVar
KCNJ2	P63252	p.Ala115Val	RCV000369248	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70175383C>T	ClinVar
KCNJ2	P63252	p.Ala115Val	rs886053323	missense variant	-	NC_000017.11:g.70175383C>T	-
KCNJ2	P63252	p.Ala115Val	rs886053323	missense variant	-	NC_000017.11:g.70175383C>T	NCI-TCGA
KCNJ2	P63252	p.Ala115Val	RCV000312265	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175383C>T	ClinVar
KCNJ2	P63252	p.Glu118Asp	rs538725136	missense variant	-	NC_000017.11:g.70175393G>C	1000Genomes,ExAC,gnomAD
KCNJ2	P63252	p.Lys120Thr	rs375646186	missense variant	-	NC_000017.11:g.70175398A>C	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Lys120Thr	RCV000497313	missense variant	-	NC_000017.11:g.70175398A>C	ClinVar
KCNJ2	P63252	p.Cys122Tyr	rs1555603931	missense variant	-	NC_000017.11:g.70175404G>A	-
KCNJ2	P63252	p.Cys122Tyr	RCV000618249	missense variant	-	NC_000017.11:g.70175404G>A	ClinVar
KCNJ2	P63252	p.Val123Gly	RCV000058309	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175407T>G	ClinVar
KCNJ2	P63252	p.Val123Gly	rs199473375	missense variant	-	NC_000017.11:g.70175407T>G	-
KCNJ2	P63252	p.Phe129Ser	rs1383215658	missense variant	-	NC_000017.11:g.70175425T>C	gnomAD
KCNJ2	P63252	p.Phe129SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.70175423C>-	NCI-TCGA
KCNJ2	P63252	p.Phe129Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175424T>A	NCI-TCGA
KCNJ2	P63252	p.Thr130Ala	rs1555603936	missense variant	-	NC_000017.11:g.70175427A>G	-
KCNJ2	P63252	p.Thr130Met	rs151168735	missense variant	-	NC_000017.11:g.70175428C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr130Ala	RCV000515675	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175427A>G	ClinVar
KCNJ2	P63252	p.Thr130Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175428C>A	NCI-TCGA
KCNJ2	P63252	p.Ala131Thr	COSM1479927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175430G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Ala132Gly	rs1161792828	missense variant	-	NC_000017.11:g.70175434C>G	gnomAD
KCNJ2	P63252	p.Leu134Ile	rs1390704358	missense variant	-	NC_000017.11:g.70175439C>A	gnomAD
KCNJ2	P63252	p.Ser136PhePhe	RCV000206325	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175446_70175448delinsTTT	ClinVar
KCNJ2	P63252	p.Ser136Phe	rs199473376	missense variant	-	NC_000017.11:g.70175446C>T	-
KCNJ2	P63252	p.SerIle136PhePhe	rs864622292	missense variant	-	NC_000017.11:g.70175446_70175448delinsTTT	-
KCNJ2	P63252	p.Ser136Phe	RCV000058310	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175446C>T	ClinVar
KCNJ2	P63252	p.Ile137Asn	RCV000545299	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175449T>A	ClinVar
KCNJ2	P63252	p.Ile137Thr	rs772055408	missense variant	-	NC_000017.11:g.70175449T>C	ExAC,gnomAD
KCNJ2	P63252	p.Ile137Asn	rs772055408	missense variant	-	NC_000017.11:g.70175449T>A	ExAC,gnomAD
KCNJ2	P63252	p.Glu138Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175451G>A	NCI-TCGA
KCNJ2	P63252	p.Thr139Ile	rs1060500052	missense variant	-	NC_000017.11:g.70175455C>T	-
KCNJ2	P63252	p.Thr139Ile	RCV000462204	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175455C>T	ClinVar
KCNJ2	P63252	p.Gly144Ser	rs199473378	missense variant	-	NC_000017.11:g.70175469G>A	-
KCNJ2	P63252	p.Gly144Asp	RCV000644780	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175470G>A	ClinVar
KCNJ2	P63252	p.Gly144Asp	rs199473377	missense variant	-	NC_000017.11:g.70175470G>A	-
KCNJ2	P63252	p.Gly144Ala	rs199473377	missense variant	-	NC_000017.11:g.70175470G>C	-
KCNJ2	P63252	p.Gly144Ser	RCV000058311	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175469G>A	ClinVar
KCNJ2	P63252	p.Gly144Ala	RCV000058313	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175470G>C	ClinVar
KCNJ2	P63252	p.Gly146Ser	RCV000058314	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175475G>A	ClinVar
KCNJ2	P63252	p.Gly146Asp	RCV000058315	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175476G>A	ClinVar
KCNJ2	P63252	p.Gly146Ala	RCV000058316	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175476G>C	ClinVar
KCNJ2	P63252	p.Gly146Ser	rs199473654	missense variant	-	NC_000017.11:g.70175475G>A	-
KCNJ2	P63252	p.Gly146Asp	rs199473379	missense variant	-	NC_000017.11:g.70175476G>A	-
KCNJ2	P63252	p.Gly146Ala	rs199473379	missense variant	-	NC_000017.11:g.70175476G>C	-
KCNJ2	P63252	p.Arg148Ile	COSM6147432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175482G>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Thr151Met	rs766588803	missense variant	-	NC_000017.11:g.70175491C>T	ExAC,gnomAD
KCNJ2	P63252	p.Cys154Phe	RCV000058317	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175500G>T	ClinVar
KCNJ2	P63252	p.Cys154Phe	rs199473380	missense variant	-	NC_000017.11:g.70175500G>T	NCI-TCGA
KCNJ2	P63252	p.Cys154Phe	rs199473380	missense variant	-	NC_000017.11:g.70175500G>T	-
KCNJ2	P63252	p.Ile156Val	rs767934529	missense variant	-	NC_000017.11:g.70175505A>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ala157Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175509C>A	NCI-TCGA
KCNJ2	P63252	p.Val158Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175512T>C	NCI-TCGA
KCNJ2	P63252	p.Phe159Ser	rs1236228202	missense variant	-	NC_000017.11:g.70175515T>C	TOPMed,gnomAD
KCNJ2	P63252	p.Phe159Leu	rs753215455	missense variant	-	NC_000017.11:g.70175516C>A	ExAC,gnomAD
KCNJ2	P63252	p.Met160Leu	rs1183624780	missense variant	-	NC_000017.11:g.70175517A>T	TOPMed,gnomAD
KCNJ2	P63252	p.Met160Val	rs1183624780	missense variant	-	NC_000017.11:g.70175517A>G	TOPMed,gnomAD
KCNJ2	P63252	p.Ile166Val	rs1257883069	missense variant	-	NC_000017.11:g.70175535A>G	gnomAD
KCNJ2	P63252	p.Val167Met	rs140147979	missense variant	-	NC_000017.11:g.70175538G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Val167Met	rs140147979	missense variant	-	NC_000017.11:g.70175538G>A	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Ile170Met	rs1555603943	missense variant	-	NC_000017.11:g.70175549C>G	-
KCNJ2	P63252	p.Ile170Met	RCV000617655	missense variant	-	NC_000017.11:g.70175549C>G	ClinVar
KCNJ2	P63252	p.Ile171Val	rs150326473	missense variant	-	NC_000017.11:g.70175550A>G	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Ile171Val	rs150326473	missense variant	-	NC_000017.11:g.70175550A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ile171Met	COSM437252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175552C>G	NCI-TCGA Cosmic
KCNJ2	P63252	p.Asp172Asn	rs104894584	missense variant	Short qt syndrome 3 (sqt3)	NC_000017.11:g.70175553G>A	-
KCNJ2	P63252	p.Asp172Asn	rs104894584	missense variant	Short QT syndrome 3 (SQT3)	NC_000017.11:g.70175553G>A	UniProt,dbSNP
KCNJ2	P63252	p.Asp172Asn	VAR_023842	missense variant	Short QT syndrome 3 (SQT3)	NC_000017.11:g.70175553G>A	UniProt
KCNJ2	P63252	p.Asp172Asn	RCV000058318	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70175553G>A	ClinVar
KCNJ2	P63252	p.Ala173Thr	rs778699148	missense variant	-	NC_000017.11:g.70175556G>A	ExAC
KCNJ2	P63252	p.Ile175Leu	rs761209037	missense variant	-	NC_000017.11:g.70175562A>C	gnomAD
KCNJ2	P63252	p.Ile175Thr	COSM707433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175563T>C	NCI-TCGA Cosmic
KCNJ2	P63252	p.Gly177Ser	rs1555603949	missense variant	-	NC_000017.11:g.70175568G>A	-
KCNJ2	P63252	p.Gly177Ser	RCV000520397	missense variant	-	NC_000017.11:g.70175568G>A	ClinVar
KCNJ2	P63252	p.Gly177Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175568G>T	NCI-TCGA
KCNJ2	P63252	p.Ala178Thr	rs771965504	missense variant	-	NC_000017.11:g.70175571G>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ala178Ser	rs771965504	missense variant	-	NC_000017.11:g.70175571G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ala178Thr	rs771965504	missense variant	-	NC_000017.11:g.70175571G>A	NCI-TCGA
KCNJ2	P63252	p.Ala178Ser	rs771965504	missense variant	-	NC_000017.11:g.70175571G>T	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Val179Ile	rs779764704	missense variant	-	NC_000017.11:g.70175574G>A	ExAC,gnomAD
KCNJ2	P63252	p.Met180Ile	COSM6147431	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175579G>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Met183GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.70175580_70175593GCCAAGATGGCAAA>-	NCI-TCGA
KCNJ2	P63252	p.Lys185Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175592A>C	NCI-TCGA
KCNJ2	P63252	p.Pro186Leu	rs104894581	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175596C>T	UniProt,dbSNP
KCNJ2	P63252	p.Pro186Leu	VAR_017854	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175596C>T	UniProt
KCNJ2	P63252	p.Pro186Leu	rs104894581	missense variant	-	NC_000017.11:g.70175596C>T	-
KCNJ2	P63252	p.Pro186Leu	RCV000058319	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175596C>T	ClinVar
KCNJ2	P63252	p.Arg189Gly	RCV000493398	missense variant	-	NC_000017.11:g.70175604A>G	ClinVar
KCNJ2	P63252	p.Arg189Lys	RCV000170980	missense variant	-	NC_000017.11:g.70175605G>A	ClinVar
KCNJ2	P63252	p.Arg189Ile	RCV000058320	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175605G>T	ClinVar
KCNJ2	P63252	p.Arg189Ile	rs199473381	missense variant	-	NC_000017.11:g.70175605G>T	-
KCNJ2	P63252	p.Arg189Gly	rs1131691475	missense variant	-	NC_000017.11:g.70175604A>G	-
KCNJ2	P63252	p.Arg189Lys	rs199473381	missense variant	-	NC_000017.11:g.70175605G>A	-
KCNJ2	P63252	p.Asn190Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175609C>A	NCI-TCGA
KCNJ2	P63252	p.Glu191Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175610G>A	NCI-TCGA
KCNJ2	P63252	p.Thr192Ala	RCV000058321	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175613A>G	ClinVar
KCNJ2	P63252	p.Thr192Ile	RCV000058322	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175614C>T	ClinVar
KCNJ2	P63252	p.Thr192Ile	rs199473655	missense variant	-	NC_000017.11:g.70175614C>T	-
KCNJ2	P63252	p.Thr192Ala	rs199473382	missense variant	-	NC_000017.11:g.70175613A>G	-
KCNJ2	P63252	p.Thr192Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175614C>A	NCI-TCGA
KCNJ2	P63252	p.Leu193His	RCV000518683	missense variant	-	NC_000017.11:g.70175617T>A	ClinVar
KCNJ2	P63252	p.Leu193His	rs1555603955	missense variant	-	NC_000017.11:g.70175617T>A	-
KCNJ2	P63252	p.Leu193His	RCV000807719	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175617T>A	ClinVar
KCNJ2	P63252	p.Ala199Val	COSM5937721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175635C>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Ala199Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175634G>T	NCI-TCGA
KCNJ2	P63252	p.Ala202Thr	rs759793133	missense variant	-	NC_000017.11:g.70175643G>A	ExAC,gnomAD
KCNJ2	P63252	p.Met203Thr	rs1447067995	missense variant	-	NC_000017.11:g.70175647T>C	TOPMed
KCNJ2	P63252	p.Asp205Gly	rs1378737445	missense variant	-	NC_000017.11:g.70175653A>G	TOPMed
KCNJ2	P63252	p.Asp205Glu	rs767844416	missense variant	-	NC_000017.11:g.70175654C>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp205Glu	COSM707431	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175654C>G	NCI-TCGA Cosmic
KCNJ2	P63252	p.Asp205Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175652G>T	NCI-TCGA
KCNJ2	P63252	p.Gly206Ser	RCV000724926	missense variant	-	NC_000017.11:g.70175655G>A	ClinVar
KCNJ2	P63252	p.Gly206Ser	RCV000340562	missense variant	-	NC_000017.11:g.70175655G>A	ClinVar
KCNJ2	P63252	p.Gly206Asp	rs370571312	missense variant	-	NC_000017.11:g.70175656G>A	ESP,TOPMed
KCNJ2	P63252	p.Gly206Ser	rs141035459	missense variant	-	NC_000017.11:g.70175655G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Gly206Arg	rs141035459	missense variant	-	NC_000017.11:g.70175655G>C	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Gly206Val	COSM983659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175656G>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Gly206Ser	RCV000644781	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175655G>A	ClinVar
KCNJ2	P63252	p.Arg213Gln	rs1277440117	missense variant	-	NC_000017.11:g.70175677G>A	TOPMed,gnomAD
KCNJ2	P63252	p.Arg213Ter	rs764523123	stop gained	-	NC_000017.11:g.70175676C>T	ExAC,gnomAD
KCNJ2	P63252	p.Val214Leu	COSM6081592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175679G>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Gly215Asp	RCV000458761	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175683G>A	ClinVar
KCNJ2	P63252	p.Gly215Asp	rs199473383	missense variant	-	NC_000017.11:g.70175683G>A	-
KCNJ2	P63252	p.Asn216His	RCV000009481	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175685A>C	ClinVar
KCNJ2	P63252	p.Asn216His	rs104894583	missense variant	-	NC_000017.11:g.70175685A>C	-
KCNJ2	P63252	p.Asn216His	rs104894583	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175685A>C	UniProt,dbSNP
KCNJ2	P63252	p.Asn216His	VAR_017855	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175685A>C	UniProt
KCNJ2	P63252	p.Leu217Ile	rs1218827971	missense variant	-	NC_000017.11:g.70175688C>A	-
KCNJ2	P63252	p.Leu217Pro	rs199473656	missense variant	-	NC_000017.11:g.70175689T>C	-
KCNJ2	P63252	p.Leu217Phe	COSM6147429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175688C>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Leu217Ile	rs1218827971	missense variant	-	NC_000017.11:g.70175688C>A	NCI-TCGA
KCNJ2	P63252	p.Leu217Pro	RCV000058325	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175689T>C	ClinVar
KCNJ2	P63252	p.Arg218Gln	rs199473384	missense variant	-	NC_000017.11:g.70175692G>A	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Arg218Leu	rs199473384	missense variant	-	NC_000017.11:g.70175692G>T	-
KCNJ2	P63252	p.Arg218Pro	rs199473384	missense variant	-	NC_000017.11:g.70175692G>C	-
KCNJ2	P63252	p.Arg218Gln	rs199473384	missense variant	-	NC_000017.11:g.70175692G>A	-
KCNJ2	P63252	p.Arg218Trp	rs104894578	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175691C>T	UniProt,dbSNP
KCNJ2	P63252	p.Arg218Trp	VAR_017856	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175691C>T	UniProt
KCNJ2	P63252	p.Arg218Trp	rs104894578	missense variant	-	NC_000017.11:g.70175691C>T	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Arg218Leu	RCV000170983	missense variant	-	NC_000017.11:g.70175692G>T	ClinVar
KCNJ2	P63252	p.Arg218Trp	RCV000009474	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175691C>T	ClinVar
KCNJ2	P63252	p.Arg218Trp	RCV000170982	missense variant	-	NC_000017.11:g.70175691C>T	ClinVar
KCNJ2	P63252	p.Arg218Trp	RCV000684775	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175691C>T	ClinVar
KCNJ2	P63252	p.Arg218Leu	RCV000470921	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175692G>T	ClinVar
KCNJ2	P63252	p.Arg218Gln	RCV000058327	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175692G>A	ClinVar
KCNJ2	P63252	p.Arg218Pro	RCV000493695	missense variant	-	NC_000017.11:g.70175692G>C	ClinVar
KCNJ2	P63252	p.Ser220Asn	COSM4580032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175698G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Leu222Ser	RCV000657962	missense variant	-	NC_000017.11:g.70175704T>C	ClinVar
KCNJ2	P63252	p.Leu222Ser	rs1555603968	missense variant	-	NC_000017.11:g.70175704T>C	-
KCNJ2	P63252	p.Val223Gly	rs1555603969	missense variant	-	NC_000017.11:g.70175707T>G	-
KCNJ2	P63252	p.Val223Gly	RCV000547269	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175707T>G	ClinVar
KCNJ2	P63252	p.Val227Phe	rs199473657	missense variant	-	NC_000017.11:g.70175718G>T	-
KCNJ2	P63252	p.Val227Phe	RCV000058328	missense variant	Ventricular tachycardia	NC_000017.11:g.70175718G>T	ClinVar
KCNJ2	P63252	p.Arg228Gln	rs1234083049	missense variant	-	NC_000017.11:g.70175722G>A	-
KCNJ2	P63252	p.Arg228Ter	rs1060500053	stop gained	-	NC_000017.11:g.70175721C>T	gnomAD
KCNJ2	P63252	p.Arg228Gln	rs1234083049	missense variant	-	NC_000017.11:g.70175722G>A	NCI-TCGA
KCNJ2	P63252	p.Arg228Ter	RCV000457313	nonsense	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175721C>T	ClinVar
KCNJ2	P63252	p.Ala229Ser	rs1401657394	missense variant	-	NC_000017.11:g.70175724G>T	gnomAD
KCNJ2	P63252	p.Ala229Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175725C>A	NCI-TCGA
KCNJ2	P63252	p.Leu232Phe	rs779856198	missense variant	-	NC_000017.11:g.70175733C>T	ExAC,gnomAD
KCNJ2	P63252	p.Arg235Gly	rs1467895883	missense variant	-	NC_000017.11:g.70175742A>G	TOPMed
KCNJ2	P63252	p.Thr237Ile	rs746781024	missense variant	-	NC_000017.11:g.70175749C>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Glu239Ter	rs1555603974	stop gained	-	NC_000017.11:g.70175754G>T	-
KCNJ2	P63252	p.Glu239Asp	rs943311933	missense variant	-	NC_000017.11:g.70175756A>T	TOPMed
KCNJ2	P63252	p.Glu239Ter	RCV000550694	nonsense	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175754G>T	ClinVar
KCNJ2	P63252	p.Glu239Asp	rs943311933	missense variant	-	NC_000017.11:g.70175756A>T	NCI-TCGA
KCNJ2	P63252	p.Gly240Arg	COSM707430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175757G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Glu241Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175760G>A	NCI-TCGA
KCNJ2	P63252	p.Pro244Leu	COSM3890283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175770C>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Asp246Tyr	rs748150144	missense variant	-	NC_000017.11:g.70175775G>T	ExAC,gnomAD
KCNJ2	P63252	p.Gln247Glu	rs1240310788	missense variant	-	NC_000017.11:g.70175778C>G	TOPMed
KCNJ2	P63252	p.Ile248Arg	rs1489055848	missense variant	-	NC_000017.11:g.70175782T>G	TOPMed,gnomAD
KCNJ2	P63252	p.Ile248Met	rs770964805	missense variant	-	NC_000017.11:g.70175783A>G	ExAC,gnomAD
KCNJ2	P63252	p.Ile248Thr	rs1489055848	missense variant	-	NC_000017.11:g.70175782T>C	TOPMed,gnomAD
KCNJ2	P63252	p.Asn251Ser	RCV000523981	missense variant	-	NC_000017.11:g.70175791A>G	ClinVar
KCNJ2	P63252	p.Asn251Ser	rs1261477163	missense variant	-	NC_000017.11:g.70175791A>G	gnomAD
KCNJ2	P63252	p.Val252Ala	rs1367370027	missense variant	-	NC_000017.11:g.70175794T>C	TOPMed
KCNJ2	P63252	p.Asp255Asn	rs1488131137	missense variant	-	NC_000017.11:g.70175802G>A	gnomAD
KCNJ2	P63252	p.Ile258Thr	rs587781007	missense variant	-	NC_000017.11:g.70175812T>C	-
KCNJ2	P63252	p.Ile258Met	rs1057524125	missense variant	-	NC_000017.11:g.70175813C>G	TOPMed,gnomAD
KCNJ2	P63252	p.Ile258Thr	RCV000126416	missense variant	-	NC_000017.11:g.70175812T>C	ClinVar
KCNJ2	P63252	p.Asp259Asn	rs1037493754	missense variant	-	NC_000017.11:g.70175814G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Asp259Asn	rs1037493754	missense variant	-	NC_000017.11:g.70175814G>A	TOPMed,gnomAD
KCNJ2	P63252	p.Arg260His	rs199473385	missense variant	-	NC_000017.11:g.70175818G>A	gnomAD
KCNJ2	P63252	p.Arg260Pro	rs199473385	missense variant	-	NC_000017.11:g.70175818G>C	gnomAD
KCNJ2	P63252	p.Arg260Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175817C>G	NCI-TCGA
KCNJ2	P63252	p.Arg260Pro	RCV000058329	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175818G>C	ClinVar
KCNJ2	P63252	p.Ile261Val	rs774461588	missense variant	-	NC_000017.11:g.70175820A>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ile267Val	rs746052198	missense variant	-	NC_000017.11:g.70175838A>G	ExAC,gnomAD
KCNJ2	P63252	p.Ile269Lys	rs886042211	missense variant	-	NC_000017.11:g.70175845T>A	-
KCNJ2	P63252	p.Ile269Val	rs930806279	missense variant	-	NC_000017.11:g.70175844A>G	gnomAD
KCNJ2	P63252	p.Ile269Lys	RCV000364962	missense variant	-	NC_000017.11:g.70175845T>A	ClinVar
KCNJ2	P63252	p.Val270Ala	rs1359665656	missense variant	-	NC_000017.11:g.70175848T>C	gnomAD
KCNJ2	P63252	p.Asp274Val	RCV000170985	missense variant	-	NC_000017.11:g.70175860A>T	ClinVar
KCNJ2	P63252	p.Asp274Val	rs786205816	missense variant	-	NC_000017.11:g.70175860A>T	-
KCNJ2	P63252	p.Asp276Gly	rs1201835791	missense variant	-	NC_000017.11:g.70175866A>G	gnomAD
KCNJ2	P63252	p.Ser277Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175869G>A	NCI-TCGA
KCNJ2	P63252	p.Pro278Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175871C>T	NCI-TCGA
KCNJ2	P63252	p.Pro278Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175872C>T	NCI-TCGA
KCNJ2	P63252	p.Leu279Phe	rs772189737	missense variant	-	NC_000017.11:g.70175876A>C	ExAC,gnomAD
KCNJ2	P63252	p.Asp281Ala	rs527277177	missense variant	-	NC_000017.11:g.70175881A>C	1000Genomes
KCNJ2	P63252	p.Leu282Trp	rs758092571	missense variant	-	NC_000017.11:g.70175884T>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Leu282Trp	RCV000559682	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175884T>G	ClinVar
KCNJ2	P63252	p.Ser283Asn	rs764589989	missense variant	-	NC_000017.11:g.70175887G>A	ExAC,gnomAD
KCNJ2	P63252	p.Gln285Ter	RCV000598639	nonsense	-	NC_000017.11:g.70175892C>T	ClinVar
KCNJ2	P63252	p.Gln285Ter	rs776976697	stop gained	-	NC_000017.11:g.70175892C>T	ExAC,gnomAD
KCNJ2	P63252	p.Gln285Glu	rs776976697	missense variant	-	NC_000017.11:g.70175892C>G	ExAC,gnomAD
KCNJ2	P63252	p.Asp286Glu	rs142750807	missense variant	-	NC_000017.11:g.70175897C>G	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp286Gly	rs762462064	missense variant	-	NC_000017.11:g.70175896A>G	ExAC,gnomAD
KCNJ2	P63252	p.Ile287Leu	rs758054840	missense variant	-	NC_000017.11:g.70175898A>C	ExAC,gnomAD
KCNJ2	P63252	p.Ile287Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175899T>C	NCI-TCGA
KCNJ2	P63252	p.Ala290Thr	rs895505794	missense variant	-	NC_000017.11:g.70175907G>A	gnomAD
KCNJ2	P63252	p.Ala290Thr	rs895505794	missense variant	-	NC_000017.11:g.70175907G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Ala290Ser	rs895505794	missense variant	-	NC_000017.11:g.70175907G>T	gnomAD
KCNJ2	P63252	p.Val295Ala	RCV000171667	missense variant	-	NC_000017.11:g.70175923T>C	ClinVar
KCNJ2	P63252	p.Val295Gly	rs201162707	missense variant	-	NC_000017.11:g.70175923T>G	ExAC,gnomAD
KCNJ2	P63252	p.Val295Ala	rs201162707	missense variant	-	NC_000017.11:g.70175923T>C	ExAC,gnomAD
KCNJ2	P63252	p.Val295Ala	rs201162707	missense variant	-	NC_000017.11:g.70175923T>C	NCI-TCGA
KCNJ2	P63252	p.Val295Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175922G>A	NCI-TCGA
KCNJ2	P63252	p.Glu299Val	rs786205817	missense variant	-	NC_000017.11:g.70175935A>T	-
KCNJ2	P63252	p.Glu299Val	RCV000170986	missense variant	-	NC_000017.11:g.70175935A>T	ClinVar
KCNJ2	P63252	p.Gly300Val	RCV000058332	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175938G>T	ClinVar
KCNJ2	P63252	p.Gly300Ala	RCV000058331	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175938G>C	ClinVar
KCNJ2	P63252	p.Gly300Val	rs104894579	missense variant	-	NC_000017.11:g.70175938G>T	-
KCNJ2	P63252	p.Gly300Val	rs104894579	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175938G>T	UniProt,dbSNP
KCNJ2	P63252	p.Gly300Val	VAR_017857	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175938G>T	UniProt
KCNJ2	P63252	p.Gly300Asp	rs104894579	missense variant	-	NC_000017.11:g.70175938G>A	-
KCNJ2	P63252	p.Gly300Ala	rs104894579	missense variant	-	NC_000017.11:g.70175938G>C	-
KCNJ2	P63252	p.Gly300Asp	RCV000058330	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175938G>A	ClinVar
KCNJ2	P63252	p.Met301Arg	rs876661184	missense variant	-	NC_000017.11:g.70175941T>G	-
KCNJ2	P63252	p.Met301Val	rs786205818	missense variant	-	NC_000017.11:g.70175940A>G	-
KCNJ2	P63252	p.Met301Leu	rs786205818	missense variant	-	NC_000017.11:g.70175940A>C	-
KCNJ2	P63252	p.Met301Leu	RCV000435544	missense variant	-	NC_000017.11:g.70175940A>C	ClinVar
KCNJ2	P63252	p.Met301Arg	RCV000221740	missense variant	-	NC_000017.11:g.70175941T>G	ClinVar
KCNJ2	P63252	p.Met301Val	RCV000702725	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175940A>G	ClinVar
KCNJ2	P63252	p.Val302Met	rs104894582	missense variant	-	NC_000017.11:g.70175943G>A	-
KCNJ2	P63252	p.Val302Met	rs104894582	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175943G>A	UniProt,dbSNP
KCNJ2	P63252	p.Val302Met	VAR_017858	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175943G>A	UniProt
KCNJ2	P63252	p.Val302Met	RCV000009480	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175943G>A	ClinVar
KCNJ2	P63252	p.Val302Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70175943G>T	NCI-TCGA
KCNJ2	P63252	p.Glu303Lys	RCV000058334	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175946G>A	ClinVar
KCNJ2	P63252	p.Glu303Lys	rs199473386	missense variant	-	NC_000017.11:g.70175946G>A	ExAC,gnomAD
KCNJ2	P63252	p.Thr305Pro	rs199473387	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175952A>C	UniProt,dbSNP
KCNJ2	P63252	p.Thr305Pro	VAR_065864	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175952A>C	UniProt
KCNJ2	P63252	p.Thr305Pro	rs199473387	missense variant	-	NC_000017.11:g.70175952A>C	-
KCNJ2	P63252	p.Thr305Pro	RCV000058335	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175952A>C	ClinVar
KCNJ2	P63252	p.Thr305Ala	RCV000678809	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175952A>G	ClinVar
KCNJ2	P63252	p.Ala306Thr	rs1453511355	missense variant	-	NC_000017.11:g.70175955G>A	TOPMed
KCNJ2	P63252	p.Met307Ile	rs199473658	missense variant	-	NC_000017.11:g.70175960G>A	-
KCNJ2	P63252	p.Met307Ile	RCV000058337	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175960G>A	ClinVar
KCNJ2	P63252	p.Met307Val	rs1555603994	missense variant	-	NC_000017.11:g.70175958A>G	-
KCNJ2	P63252	p.Met307Val	RCV000644782	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175958A>G	ClinVar
KCNJ2	P63252	p.Thr308Met	rs748053853	missense variant	-	NC_000017.11:g.70175962C>T	ExAC,gnomAD
KCNJ2	P63252	p.Thr308Met	rs748053853	missense variant	-	NC_000017.11:g.70175962C>T	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Thr309Ile	rs199473388	missense variant	-	NC_000017.11:g.70175965C>T	-
KCNJ2	P63252	p.Thr309Ile	RCV000058338	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175965C>T	ClinVar
KCNJ2	P63252	p.Cys311SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.70175971G>-	NCI-TCGA
KCNJ2	P63252	p.Arg312Cys	rs199473389	missense variant	-	NC_000017.11:g.70175973C>T	gnomAD
KCNJ2	P63252	p.Arg312His	rs786205820	missense variant	-	NC_000017.11:g.70175974G>A	-
KCNJ2	P63252	p.Arg312His	rs786205820	missense variant	-	NC_000017.11:g.70175974G>A	NCI-TCGA
KCNJ2	P63252	p.Arg312His	RCV000644779	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175974G>A	ClinVar
KCNJ2	P63252	p.Arg312Cys	RCV000443262	missense variant	-	NC_000017.11:g.70175973C>T	ClinVar
KCNJ2	P63252	p.Ser313Asn	rs1241493359	missense variant	-	NC_000017.11:g.70175977G>A	TOPMed
KCNJ2	P63252	p.Ser314_Tyr315del	VAR_017859	inframe_deletion	Long QT syndrome 7 (LQT7) [MIM:170390]	-	UniProt
KCNJ2	P63252	p.Ala317Thr	rs778898178	missense variant	-	NC_000017.11:g.70175988G>A	ExAC,gnomAD
KCNJ2	P63252	p.Asn318Ser	RCV000148541	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175992A>G	ClinVar
KCNJ2	P63252	p.Asn318Ser	rs367560052	missense variant	-	NC_000017.11:g.70175992A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Leu321Val	rs1489001971	missense variant	-	NC_000017.11:g.70176000C>G	TOPMed
KCNJ2	P63252	p.Trp322Cys	rs797044842	missense variant	-	NC_000017.11:g.70176005G>C	-
KCNJ2	P63252	p.Trp322Cys	RCV000193904	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176005G>C	ClinVar
KCNJ2	P63252	p.Arg325Cys	RCV000170995	missense variant	-	NC_000017.11:g.70176012C>T	ClinVar
KCNJ2	P63252	p.Arg325Cys	RCV000496264	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176012C>T	ClinVar
KCNJ2	P63252	p.Arg325Cys	RCV000816436	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176012C>T	ClinVar
KCNJ2	P63252	p.Arg325His	rs1555604000	missense variant	-	NC_000017.11:g.70176013G>A	-
KCNJ2	P63252	p.Arg325His	rs1555604000	missense variant	-	NC_000017.11:g.70176013G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Arg325Cys	rs202067116	missense variant	-	NC_000017.11:g.70176012C>T	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg325His	RCV000498871	missense variant	-	NC_000017.11:g.70176013G>A	ClinVar
KCNJ2	P63252	p.Arg325Cys	RCV000208475	missense variant	Ventricular fibrillation	NC_000017.11:g.70176012C>T	ClinVar
KCNJ2	P63252	p.Tyr326Asn	rs786205819	missense variant	-	NC_000017.11:g.70176015T>A	-
KCNJ2	P63252	p.Tyr326Asn	RCV000170989	missense variant	-	NC_000017.11:g.70176015T>A	ClinVar
KCNJ2	P63252	p.Tyr326Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.70176017T>A	NCI-TCGA
KCNJ2	P63252	p.Glu327Lys	rs1378491441	missense variant	-	NC_000017.11:g.70176018G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Glu327Lys	rs1378491441	missense variant	-	NC_000017.11:g.70176018G>A	gnomAD
KCNJ2	P63252	p.Pro328Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176021C>G	NCI-TCGA
KCNJ2	P63252	p.Val329Leu	rs747299642	missense variant	-	NC_000017.11:g.70176024G>C	ExAC,gnomAD
KCNJ2	P63252	p.Leu330Phe	rs768884407	missense variant	-	NC_000017.11:g.70176027C>T	ExAC,TOPMed
KCNJ2	P63252	p.Glu332Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176033G>A	NCI-TCGA
KCNJ2	P63252	p.Glu333Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.70176036G>T	NCI-TCGA
KCNJ2	P63252	p.Glu333Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176038G>T	NCI-TCGA
KCNJ2	P63252	p.Lys334Thr	rs1356573793	missense variant	-	NC_000017.11:g.70176040A>C	gnomAD
KCNJ2	P63252	p.His335Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176044C>A	NCI-TCGA
KCNJ2	P63252	p.Tyr341Asn	COSM1385611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176060T>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Ser342Cys	rs1320510274	missense variant	-	NC_000017.11:g.70176064C>G	TOPMed,gnomAD
KCNJ2	P63252	p.Ser342Phe	rs1320510274	missense variant	-	NC_000017.11:g.70176064C>T	TOPMed,gnomAD
KCNJ2	P63252	p.Ser342Phe	rs1320510274	missense variant	-	NC_000017.11:g.70176064C>T	NCI-TCGA
KCNJ2	P63252	p.Tyr348Ter	rs764729208	stop gained	-	NC_000017.11:g.70176082dup	ExAC,gnomAD
KCNJ2	P63252	p.Glu349Lys	RCV000170990	missense variant	-	NC_000017.11:g.70176084G>A	ClinVar
KCNJ2	P63252	p.Glu349Lys	rs375330016	missense variant	-	NC_000017.11:g.70176084G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Glu349Lys	RCV000689013	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176084G>A	ClinVar
KCNJ2	P63252	p.Pro351Ser	rs199473659	missense variant	-	NC_000017.11:g.70176090C>T	-
KCNJ2	P63252	p.Pro351Ser	RCV000058291	missense variant	Congenital long QT syndrome	NC_000017.11:g.70176090C>T	ClinVar
KCNJ2	P63252	p.Thr353Ile	rs1183452643	missense variant	-	NC_000017.11:g.70176097C>T	gnomAD
KCNJ2	P63252	p.Thr353Ala	rs765979891	missense variant	-	NC_000017.11:g.70176096A>G	ExAC
KCNJ2	P63252	p.Leu355Phe	rs1411366891	missense variant	-	NC_000017.11:g.70176102C>T	gnomAD
KCNJ2	P63252	p.Cys356Phe	rs368406938	missense variant	-	NC_000017.11:g.70176106G>T	ESP,gnomAD
KCNJ2	P63252	p.Asp360Asn	COSM983663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176117G>A	NCI-TCGA Cosmic
KCNJ2	P63252	p.Asp360Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176117G>T	NCI-TCGA
KCNJ2	P63252	p.Ala362Gly	rs1340759524	missense variant	-	NC_000017.11:g.70176124C>G	gnomAD
KCNJ2	P63252	p.Ala362Thr	rs752494731	missense variant	-	NC_000017.11:g.70176123G>A	ExAC,gnomAD
KCNJ2	P63252	p.Glu363Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176126G>A	NCI-TCGA
KCNJ2	P63252	p.Lys364Arg	RCV000786146	missense variant	-	NC_000017.11:g.70176130A>G	ClinVar
KCNJ2	P63252	p.Lys364Asn	rs755990211	missense variant	-	NC_000017.11:g.70176131G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Lys364Arg	rs1060500054	missense variant	-	NC_000017.11:g.70176130A>G	-
KCNJ2	P63252	p.Lys364Arg	RCV000464347	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176130A>G	ClinVar
KCNJ2	P63252	p.Lys365Gln	rs777674628	missense variant	-	NC_000017.11:g.70176132A>C	ExAC,gnomAD
KCNJ2	P63252	p.Ile367Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176138A>G	NCI-TCGA
KCNJ2	P63252	p.Leu368Ter	RCV000689975	frameshift	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176141del	ClinVar
KCNJ2	P63252	p.Leu368Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176142T>C	NCI-TCGA
KCNJ2	P63252	p.Asn370Lys	rs758380748	missense variant	-	NC_000017.11:g.70176149T>G	ExAC
KCNJ2	P63252	p.Ala371Glu	rs780233256	missense variant	-	NC_000017.11:g.70176151C>A	ExAC,gnomAD
KCNJ2	P63252	p.Ala371Glu	RCV000539970	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176151C>A	ClinVar
KCNJ2	P63252	p.Asn372Ser	rs1279418065	missense variant	-	NC_000017.11:g.70176154A>G	gnomAD
KCNJ2	P63252	p.Phe374Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176160T>C	NCI-TCGA
KCNJ2	P63252	p.Tyr376Cys	rs1320580224	missense variant	-	NC_000017.11:g.70176166A>G	gnomAD
KCNJ2	P63252	p.Glu387Lys	rs1443012108	missense variant	-	NC_000017.11:g.70176198G>A	NCI-TCGA
KCNJ2	P63252	p.Glu387Lys	rs1443012108	missense variant	-	NC_000017.11:g.70176198G>A	gnomAD
KCNJ2	P63252	p.Asp389Gly	rs781633153	missense variant	-	NC_000017.11:g.70176205A>G	ExAC,gnomAD
KCNJ2	P63252	p.Asp389Asn	rs140053197	missense variant	-	NC_000017.11:g.70176204G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp389His	rs140053197	missense variant	-	NC_000017.11:g.70176204G>C	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ser390Ile	rs748535146	missense variant	-	NC_000017.11:g.70176208G>T	ExAC,gnomAD
KCNJ2	P63252	p.Ser390Cys	COSM6147428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176207A>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Ser390Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176208G>A	NCI-TCGA
KCNJ2	P63252	p.Val394Ala	rs1476792410	missense variant	-	NC_000017.11:g.70176220T>C	gnomAD
KCNJ2	P63252	p.Ser397Asn	RCV000685930	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176229G>A	ClinVar
KCNJ2	P63252	p.Ser399Gly	rs1282460632	missense variant	-	NC_000017.11:g.70176234A>G	gnomAD
KCNJ2	P63252	p.Thr400Met	RCV000170991	missense variant	-	NC_000017.11:g.70176238C>T	ClinVar
KCNJ2	P63252	p.Thr400Met	RCV000148542	missense variant	Long QT syndrome (LQTS)	NC_000017.11:g.70176238C>T	ClinVar
KCNJ2	P63252	p.Thr400Met	rs144022753	missense variant	-	NC_000017.11:g.70176238C>T	NCI-TCGA,NCI-TCGA Cosmic
KCNJ2	P63252	p.Thr400Ala	rs1402297652	missense variant	-	NC_000017.11:g.70176237A>G	gnomAD
KCNJ2	P63252	p.Thr400Arg	rs144022753	missense variant	-	NC_000017.11:g.70176238C>G	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr400Met	rs144022753	missense variant	-	NC_000017.11:g.70176238C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr400Met	RCV000621624	missense variant	-	NC_000017.11:g.70176238C>T	ClinVar
KCNJ2	P63252	p.Asp401Gly	rs1358172761	missense variant	-	NC_000017.11:g.70176241A>G	gnomAD
KCNJ2	P63252	p.Thr402Met	RCV000627126	missense variant	-	NC_000017.11:g.70176244C>T	ClinVar
KCNJ2	P63252	p.Thr402Met	RCV000698640	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176244C>T	ClinVar
KCNJ2	P63252	p.Thr402Met	rs759070406	missense variant	-	NC_000017.11:g.70176244C>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr402Lys	rs759070406	missense variant	-	NC_000017.11:g.70176244C>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr402Arg	COSM6081591	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176244C>G	NCI-TCGA Cosmic
KCNJ2	P63252	p.Thr402Met	RCV000619357	missense variant	-	NC_000017.11:g.70176244C>T	ClinVar
KCNJ2	P63252	p.Pro403Thr	rs752406680	missense variant	-	NC_000017.11:g.70176246C>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro404Arg	rs760459401	missense variant	-	NC_000017.11:g.70176250C>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro404Ser	COSM1710714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176249C>T	NCI-TCGA Cosmic
KCNJ2	P63252	p.Pro404LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.70176246C>-	NCI-TCGA
KCNJ2	P63252	p.Asp405Tyr	rs1195342933	missense variant	-	NC_000017.11:g.70176252G>T	gnomAD
KCNJ2	P63252	p.Ile406Thr	rs202149686	missense variant	-	NC_000017.11:g.70176256T>C	-
KCNJ2	P63252	p.Ile406Thr	RCV000171668	missense variant	-	NC_000017.11:g.70176256T>C	ClinVar
KCNJ2	P63252	p.Leu408Val	rs753757610	missense variant	-	NC_000017.11:g.70176261C>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asn410Ser	rs141069645	missense variant	-	NC_000017.11:g.70176268A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asn410Ser	RCV000755556	missense variant	-	NC_000017.11:g.70176268A>G	ClinVar
KCNJ2	P63252	p.Ala412Ser	rs1485455146	missense variant	-	NC_000017.11:g.70176273G>T	TOPMed,gnomAD
KCNJ2	P63252	p.Ser413Cys	rs910587867	missense variant	-	NC_000017.11:g.70176276A>T	TOPMed
KCNJ2	P63252	p.Ser413Ile	rs779960704	missense variant	-	NC_000017.11:g.70176277G>T	ExAC,gnomAD
KCNJ2	P63252	p.Ser413Asn	rs779960704	missense variant	-	NC_000017.11:g.70176277G>A	ExAC,gnomAD
KCNJ2	P63252	p.Pro415His	rs373799322	missense variant	-	NC_000017.11:g.70176283C>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro415Leu	rs373799322	missense variant	-	NC_000017.11:g.70176283C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro415Leu	RCV000757418	missense variant	-	NC_000017.11:g.70176283C>T	ClinVar
KCNJ2	P63252	p.Pro420Leu	RCV000350551	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176298C>T	ClinVar
KCNJ2	P63252	p.Pro420Leu	rs749707062	missense variant	-	NC_000017.11:g.70176298C>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro420Leu	RCV000293237	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70176298C>T	ClinVar
KCNJ2	P63252	p.Pro420Leu	RCV000407751	missense variant	Familial atrial fibrillation	NC_000017.11:g.70176298C>T	ClinVar
KCNJ2	P63252	p.Pro420Leu	RCV000248675	missense variant	-	NC_000017.11:g.70176298C>T	ClinVar
KCNJ2	P63252	p.Arg422Leu	RCV000058292	missense variant	Congenital long QT syndrome	NC_000017.11:g.70176304G>T	ClinVar
KCNJ2	P63252	p.Arg422Pro	rs199473390	missense variant	-	NC_000017.11:g.70176304G>C	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg422Leu	rs199473390	missense variant	-	NC_000017.11:g.70176304G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg422Gln	rs199473390	missense variant	-	NC_000017.11:g.70176304G>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg422Trp	rs1478741381	missense variant	-	NC_000017.11:g.70176303C>T	gnomAD
KCNJ2	P63252	p.Arg423Gln	rs745372216	missense variant	-	NC_000017.11:g.70176307G>A	ExAC,gnomAD
KCNJ2	P63252	p.Arg423Gln	RCV000208186	missense variant	Long QT syndrome (LQTS)	NC_000017.11:g.70176307G>A	ClinVar
KCNJ2	P63252	p.Arg423Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176306C>G	NCI-TCGA
KCNJ2	P63252	p.Glu424Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.70176309G>A	NCI-TCGA
KCNJ2	P63252	p.Ser425Leu	rs768959311	missense variant	-	NC_000017.11:g.70176313C>T	ExAC,gnomAD
KCNJ2	P63252	p.Met1Thr	RCV000170969	missense variant	-	NC_000017.11:g.70175041T>C	ClinVar
KCNJ2	P63252	p.Val4Met	rs756248184	missense variant	-	NC_000017.11:g.70175049G>A	ExAC,gnomAD
KCNJ2	P63252	p.Arg5Gly	rs1042485	missense variant	-	NC_000017.11:g.70175052C>G	gnomAD
KCNJ2	P63252	p.Arg5Gln	rs764311511	missense variant	-	NC_000017.11:g.70175053G>A	ExAC,gnomAD
KCNJ2	P63252	p.Arg5Ter	rs1042485	stop gained	-	NC_000017.11:g.70175052C>T	gnomAD
KCNJ2	P63252	p.Thr6Ile	rs754091630	missense variant	-	NC_000017.11:g.70175056C>T	ExAC,gnomAD
KCNJ2	P63252	p.Arg8His	rs140090605	missense variant	-	NC_000017.11:g.70175062G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg8Cys	rs529080615	missense variant	-	NC_000017.11:g.70175061C>T	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ser10Asn	rs1187051577	missense variant	-	NC_000017.11:g.70175068G>A	TOPMed,gnomAD
KCNJ2	P63252	p.Ser10Gly	rs1252050049	missense variant	-	NC_000017.11:g.70175067A>G	TOPMed
KCNJ2	P63252	p.Glu16Gln	rs1203915572	missense variant	-	NC_000017.11:g.70175085G>C	TOPMed
KCNJ2	P63252	p.Glu16Asp	rs1470684052	missense variant	-	NC_000017.11:g.70175087A>C	TOPMed,gnomAD
KCNJ2	P63252	p.Glu16Gly	rs758776917	missense variant	-	NC_000017.11:g.70175086A>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp17Asn	RCV000656202	missense variant	Wolff-Parkinson-White pattern	NC_000017.11:g.70175088G>A	ClinVar
KCNJ2	P63252	p.Asp17His	rs1331601602	missense variant	-	NC_000017.11:g.70175088G>C	gnomAD
KCNJ2	P63252	p.Asp17Gly	rs780600986	missense variant	-	NC_000017.11:g.70175089A>G	ExAC,gnomAD
KCNJ2	P63252	p.Asp17Asn	rs1331601602	missense variant	-	NC_000017.11:g.70175088G>A	gnomAD
KCNJ2	P63252	p.Gly18Ser	rs947488726	missense variant	-	NC_000017.11:g.70175091G>A	TOPMed,gnomAD
KCNJ2	P63252	p.Gly18Ser	RCV000644778	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175091G>A	ClinVar
KCNJ2	P63252	p.Met24Thr	rs1332633060	missense variant	-	NC_000017.11:g.70175110T>C	TOPMed
KCNJ2	P63252	p.Met24Val	rs1441314140	missense variant	-	NC_000017.11:g.70175109A>G	TOPMed
KCNJ2	P63252	p.Ala25Pro	rs1316063007	missense variant	-	NC_000017.11:g.70175112G>C	TOPMed
KCNJ2	P63252	p.Gly33Arg	rs375727662	missense variant	-	NC_000017.11:g.70175136G>C	ESP,TOPMed,gnomAD
KCNJ2	P63252	p.Gly33Arg	rs375727662	missense variant	-	NC_000017.11:g.70175136G>A	ESP,TOPMed,gnomAD
KCNJ2	P63252	p.Lys34Asn	rs1476737505	missense variant	-	NC_000017.11:g.70175141G>C	gnomAD
KCNJ2	P63252	p.Lys34Arg	rs772815957	missense variant	-	NC_000017.11:g.70175140A>G	ExAC,gnomAD
KCNJ2	P63252	p.Ser35Gly	rs1192608882	missense variant	-	NC_000017.11:g.70175142A>G	gnomAD
KCNJ2	P63252	p.Ser35Thr	rs762818989	missense variant	-	NC_000017.11:g.70175143G>C	ExAC,gnomAD
KCNJ2	P63252	p.Thr39Ile	rs1367740803	missense variant	-	NC_000017.11:g.70175155C>T	gnomAD
KCNJ2	P63252	p.Arg40Gln	RCV000489623	missense variant	-	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Pro	RCV000473222	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175158G>C	ClinVar
KCNJ2	P63252	p.Arg40Gln	RCV000795350	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Gln	RCV000347359	missense variant	Familial atrial fibrillation	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Ter	rs786205811	stop gained	-	NC_000017.11:g.70175157C>T	TOPMed,gnomAD
KCNJ2	P63252	p.Arg40Pro	rs766143485	missense variant	-	NC_000017.11:g.70175158G>C	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg40Gln	rs766143485	missense variant	-	NC_000017.11:g.70175158G>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg40Gln	RCV000308982	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Gln	RCV000406881	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70175158G>A	ClinVar
KCNJ2	P63252	p.Arg40Ter	RCV000170970	nonsense	-	NC_000017.11:g.70175157C>T	ClinVar
KCNJ2	P63252	p.Cys43Arg	rs1170369013	missense variant	-	NC_000017.11:g.70175166T>C	gnomAD
KCNJ2	P63252	p.Cys43Tyr	rs774424161	missense variant	-	NC_000017.11:g.70175167G>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Cys43Phe	rs774424161	missense variant	-	NC_000017.11:g.70175167G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg46His	rs1271319212	missense variant	-	NC_000017.11:g.70175176G>A	gnomAD
KCNJ2	P63252	p.Gly52Val	rs1555603894	missense variant	-	NC_000017.11:g.70175194G>T	-
KCNJ2	P63252	p.Gly52Val	RCV000627123	missense variant	-	NC_000017.11:g.70175194G>T	ClinVar
KCNJ2	P63252	p.Cys54Phe	rs199473650	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175200G>T	UniProt,dbSNP
KCNJ2	P63252	p.Cys54Phe	VAR_065861	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175200G>T	UniProt
KCNJ2	P63252	p.Cys54Phe	rs199473650	missense variant	-	NC_000017.11:g.70175200G>T	-
KCNJ2	P63252	p.Cys54Phe	RCV000058293	missense variant	Familial periodic paralysis	NC_000017.11:g.70175200G>T	ClinVar
KCNJ2	P63252	p.Asn55Ile	rs1277940062	missense variant	-	NC_000017.11:g.70175203A>T	gnomAD
KCNJ2	P63252	p.Val56Ile	rs1264595509	missense variant	-	NC_000017.11:g.70175205G>A	TOPMed
KCNJ2	P63252	p.Gln57Arg	rs1273518954	missense variant	-	NC_000017.11:g.70175209A>G	gnomAD
KCNJ2	P63252	p.Asn60Ser	rs1484750176	missense variant	-	NC_000017.11:g.70175218A>G	TOPMed
KCNJ2	P63252	p.Arg67Gln	RCV000058295	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175239G>A	ClinVar
KCNJ2	P63252	p.Arg67Trp	rs104894580	missense variant	-	NC_000017.11:g.70175238C>T	ExAC,gnomAD
KCNJ2	P63252	p.Arg67Trp	rs104894580	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175238C>T	UniProt,dbSNP
KCNJ2	P63252	p.Arg67Trp	VAR_017851	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175238C>T	UniProt
KCNJ2	P63252	p.Arg67Gln	rs199473368	missense variant	-	NC_000017.11:g.70175239G>A	ExAC,TOPMed
KCNJ2	P63252	p.Arg67Trp	RCV000058294	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175238C>T	ClinVar
KCNJ2	P63252	p.Tyr68Asp	RCV000058296	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175241T>G	ClinVar
KCNJ2	P63252	p.Tyr68Asp	rs199473651	missense variant	-	NC_000017.11:g.70175241T>G	-
KCNJ2	P63252	p.Ala70Thr	rs375605948	missense variant	-	NC_000017.11:g.70175247G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ala70Ser	RCV000459178	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175247G>T	ClinVar
KCNJ2	P63252	p.Ala70Ser	rs375605948	missense variant	-	NC_000017.11:g.70175247G>T	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ala70Thr	RCV000170973	missense variant	-	NC_000017.11:g.70175247G>A	ClinVar
KCNJ2	P63252	p.Asp71Val	rs104894575	missense variant	-	NC_000017.11:g.70175251A>T	-
KCNJ2	P63252	p.Asp71Val	rs104894575	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175251A>T	UniProt,dbSNP
KCNJ2	P63252	p.Asp71Val	VAR_017852	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175251A>T	UniProt
KCNJ2	P63252	p.Asp71Asn	rs199473369	missense variant	-	NC_000017.11:g.70175250G>A	-
KCNJ2	P63252	p.Asp71His	rs199473369	missense variant	-	NC_000017.11:g.70175250G>C	-
KCNJ2	P63252	p.Asp71Asn	RCV000058297	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175250G>A	ClinVar
KCNJ2	P63252	p.Asp71His	RCV000208360	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175250G>C	ClinVar
KCNJ2	P63252	p.Asp71Val	RCV000058298	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175251A>T	ClinVar
KCNJ2	P63252	p.Ile72Met	rs780636530	missense variant	-	NC_000017.11:g.70175255C>G	ExAC,gnomAD
KCNJ2	P63252	p.Thr74Ala	rs199473652	missense variant	-	NC_000017.11:g.70175259A>G	-
KCNJ2	P63252	p.Thr74Ala	RCV000058299	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175259A>G	ClinVar
KCNJ2	P63252	p.Thr75Met	RCV000644783	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175263C>T	ClinVar
KCNJ2	P63252	p.Thr75Ala	RCV000058300	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175262A>G	ClinVar
KCNJ2	P63252	p.Thr75Met	RCV000170993	missense variant	-	NC_000017.11:g.70175263C>T	ClinVar
KCNJ2	P63252	p.Thr75Met	rs104894585	missense variant	-	NC_000017.11:g.70175263C>T	-
KCNJ2	P63252	p.Thr75Arg	rs104894585	missense variant	-	NC_000017.11:g.70175263C>G	-
KCNJ2	P63252	p.Thr75Arg	rs104894585	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175263C>G	UniProt,dbSNP
KCNJ2	P63252	p.Thr75Arg	VAR_065862	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175263C>G	UniProt
KCNJ2	P63252	p.Thr75Ala	rs199473370	missense variant	-	NC_000017.11:g.70175262A>G	-
KCNJ2	P63252	p.Thr75Arg	RCV000009483	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175263C>G	ClinVar
KCNJ2	P63252	p.Cys76Gly	rs786205812	missense variant	-	NC_000017.11:g.70175265T>G	-
KCNJ2	P63252	p.Cys76Gly	RCV000471851	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175265T>G	ClinVar
KCNJ2	P63252	p.Asp78Gly	rs199473371	missense variant	-	NC_000017.11:g.70175272A>G	-
KCNJ2	P63252	p.Asp78Gly	RCV000157272	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175272A>G	ClinVar
KCNJ2	P63252	p.Asp78Tyr	RCV000058303	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175271G>T	ClinVar
KCNJ2	P63252	p.Asp78Tyr	rs199473372	missense variant	-	NC_000017.11:g.70175271G>T	-
KCNJ2	P63252	p.Ile79Thr	RCV000170975	missense variant	-	NC_000017.11:g.70175275T>C	ClinVar
KCNJ2	P63252	p.Ile79Thr	rs786205813	missense variant	-	NC_000017.11:g.70175275T>C	TOPMed
KCNJ2	P63252	p.Arg82Trp	RCV000678808	missense variant	-	NC_000017.11:g.70175283C>T	ClinVar
KCNJ2	P63252	p.Arg82Gln	rs199473653	missense variant	-	NC_000017.11:g.70175284G>A	-
KCNJ2	P63252	p.Arg82Trp	rs199473373	missense variant	-	NC_000017.11:g.70175283C>T	-
KCNJ2	P63252	p.Arg82Trp	RCV000535797	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175283C>T	ClinVar
KCNJ2	P63252	p.Arg82Gln	RCV000619060	missense variant	-	NC_000017.11:g.70175284G>A	ClinVar
KCNJ2	P63252	p.Met84Thr	rs1415820562	missense variant	-	NC_000017.11:g.70175290T>C	TOPMed
KCNJ2	P63252	p.Val86Phe	rs786205814	missense variant	-	NC_000017.11:g.70175295G>T	TOPMed
KCNJ2	P63252	p.Val86Phe	RCV000170977	missense variant	-	NC_000017.11:g.70175295G>T	ClinVar
KCNJ2	P63252	p.Ile87Val	rs748958117	missense variant	-	NC_000017.11:g.70175298A>G	ExAC,gnomAD
KCNJ2	P63252	p.Ala91Val	rs538004651	missense variant	-	NC_000017.11:g.70175311C>T	1000Genomes,ExAC,gnomAD
KCNJ2	P63252	p.Val93Ile	RCV000544361	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175316G>A	ClinVar
KCNJ2	P63252	p.Val93Ile	RCV000148540	missense variant	Atrial fibrillation	NC_000017.11:g.70175316G>A	ClinVar
KCNJ2	P63252	p.Val93Ile	RCV000023029	missense variant	Atrial fibrillation, familial, 9 (ATFB9)	NC_000017.11:g.70175316G>A	ClinVar
KCNJ2	P63252	p.Val93Ala	rs1025972346	missense variant	-	NC_000017.11:g.70175317T>C	TOPMed
KCNJ2	P63252	p.Val93Ile	rs147750704	missense variant	Atrial fibrillation, familial, 9 (atfb9)	NC_000017.11:g.70175316G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Val93Ile	rs147750704	missense variant	Atrial fibrillation, familial, 9 (ATFB9)	NC_000017.11:g.70175316G>A	UniProt,dbSNP
KCNJ2	P63252	p.Val93Ile	VAR_065863	missense variant	Atrial fibrillation, familial, 9 (ATFB9)	NC_000017.11:g.70175316G>A	UniProt
KCNJ2	P63252	p.Ser95Thr	rs1256902994	missense variant	-	NC_000017.11:g.70175322T>A	TOPMed
KCNJ2	P63252	p.Ser95_Phe98del	VAR_017853	inframe_deletion	Long QT syndrome 7 (LQT7) [MIM:170390]	-	UniProt
KCNJ2	P63252	p.Phe98Ile	rs79650811	missense variant	-	NC_000017.11:g.70175331T>A	ExAC,gnomAD
KCNJ2	P63252	p.Phe98Val	rs79650811	missense variant	-	NC_000017.11:g.70175331T>G	ExAC,gnomAD
KCNJ2	P63252	p.Cys101Arg	rs199473374	missense variant	-	NC_000017.11:g.70175340T>C	-
KCNJ2	P63252	p.Cys101Phe	rs750630010	missense variant	-	NC_000017.11:g.70175341G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Cys101Phe	RCV000522222	missense variant	-	NC_000017.11:g.70175341G>T	ClinVar
KCNJ2	P63252	p.Cys101Arg	RCV000058308	missense variant	Ventricular tachycardia	NC_000017.11:g.70175340T>C	ClinVar
KCNJ2	P63252	p.Val102Met	rs766678770	missense variant	-	NC_000017.11:g.70175343G>A	ExAC,gnomAD
KCNJ2	P63252	p.Leu105Met	rs751948464	missense variant	-	NC_000017.11:g.70175352T>A	ExAC,gnomAD
KCNJ2	P63252	p.Ile106Thr	rs1239684338	missense variant	-	NC_000017.11:g.70175356T>C	gnomAD
KCNJ2	P63252	p.Leu108Val	rs371331394	missense variant	-	NC_000017.11:g.70175361C>G	ESP,TOPMed,gnomAD
KCNJ2	P63252	p.Leu109Phe	rs1207805290	missense variant	-	NC_000017.11:g.70175364C>T	gnomAD
KCNJ2	P63252	p.Leu109Pro	RCV000685772	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175365T>C	ClinVar
KCNJ2	P63252	p.His110Arg	rs781674038	missense variant	-	NC_000017.11:g.70175368A>G	ExAC,gnomAD
KCNJ2	P63252	p.His110Tyr	rs786205815	missense variant	-	NC_000017.11:g.70175367C>T	-
KCNJ2	P63252	p.His110Tyr	RCV000170979	missense variant	-	NC_000017.11:g.70175367C>T	ClinVar
KCNJ2	P63252	p.Ala115Val	RCV000369248	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70175383C>T	ClinVar
KCNJ2	P63252	p.Ala115Val	RCV000402714	missense variant	Familial atrial fibrillation	NC_000017.11:g.70175383C>T	ClinVar
KCNJ2	P63252	p.Ala115Val	rs886053323	missense variant	-	NC_000017.11:g.70175383C>T	-
KCNJ2	P63252	p.Ala115Val	RCV000312265	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175383C>T	ClinVar
KCNJ2	P63252	p.Glu118Asp	rs538725136	missense variant	-	NC_000017.11:g.70175393G>C	1000Genomes,ExAC,gnomAD
KCNJ2	P63252	p.Lys120Thr	RCV000497313	missense variant	-	NC_000017.11:g.70175398A>C	ClinVar
KCNJ2	P63252	p.Lys120Thr	rs375646186	missense variant	-	NC_000017.11:g.70175398A>C	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Cys122Tyr	RCV000618249	missense variant	-	NC_000017.11:g.70175404G>A	ClinVar
KCNJ2	P63252	p.Cys122Tyr	rs1555603931	missense variant	-	NC_000017.11:g.70175404G>A	-
KCNJ2	P63252	p.Val123Gly	rs199473375	missense variant	-	NC_000017.11:g.70175407T>G	-
KCNJ2	P63252	p.Val123Gly	RCV000058309	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175407T>G	ClinVar
KCNJ2	P63252	p.Phe129Ser	rs1383215658	missense variant	-	NC_000017.11:g.70175425T>C	gnomAD
KCNJ2	P63252	p.Thr130Ala	rs1555603936	missense variant	-	NC_000017.11:g.70175427A>G	-
KCNJ2	P63252	p.Thr130Met	rs151168735	missense variant	-	NC_000017.11:g.70175428C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr130Ala	RCV000515675	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175427A>G	ClinVar
KCNJ2	P63252	p.Ala132Gly	rs1161792828	missense variant	-	NC_000017.11:g.70175434C>G	gnomAD
KCNJ2	P63252	p.Leu134Ile	rs1390704358	missense variant	-	NC_000017.11:g.70175439C>A	gnomAD
KCNJ2	P63252	p.Ser136PhePhe	RCV000206325	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175446_70175448delinsTTT	ClinVar
KCNJ2	P63252	p.Ser136Phe	rs199473376	missense variant	-	NC_000017.11:g.70175446C>T	-
KCNJ2	P63252	p.SerIle136PhePhe	rs864622292	missense variant	-	NC_000017.11:g.70175446_70175448delinsTTT	-
KCNJ2	P63252	p.Ser136Phe	RCV000058310	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175446C>T	ClinVar
KCNJ2	P63252	p.Ile137Asn	RCV000545299	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175449T>A	ClinVar
KCNJ2	P63252	p.Ile137Thr	rs772055408	missense variant	-	NC_000017.11:g.70175449T>C	ExAC,gnomAD
KCNJ2	P63252	p.Ile137Asn	rs772055408	missense variant	-	NC_000017.11:g.70175449T>A	ExAC,gnomAD
KCNJ2	P63252	p.Thr139Ile	rs1060500052	missense variant	-	NC_000017.11:g.70175455C>T	-
KCNJ2	P63252	p.Thr139Ile	RCV000462204	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175455C>T	ClinVar
KCNJ2	P63252	p.Gly144Ser	rs199473378	missense variant	-	NC_000017.11:g.70175469G>A	-
KCNJ2	P63252	p.Gly144Asp	RCV000644780	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175470G>A	ClinVar
KCNJ2	P63252	p.Gly144Asp	rs199473377	missense variant	-	NC_000017.11:g.70175470G>A	-
KCNJ2	P63252	p.Gly144Ala	rs199473377	missense variant	-	NC_000017.11:g.70175470G>C	-
KCNJ2	P63252	p.Gly144Ala	RCV000058313	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175470G>C	ClinVar
KCNJ2	P63252	p.Gly144Ser	RCV000058311	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175469G>A	ClinVar
KCNJ2	P63252	p.Gly146Asp	RCV000058315	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175476G>A	ClinVar
KCNJ2	P63252	p.Gly146Ser	RCV000058314	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175475G>A	ClinVar
KCNJ2	P63252	p.Gly146Ala	RCV000058316	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175476G>C	ClinVar
KCNJ2	P63252	p.Gly146Ser	rs199473654	missense variant	-	NC_000017.11:g.70175475G>A	-
KCNJ2	P63252	p.Gly146Asp	rs199473379	missense variant	-	NC_000017.11:g.70175476G>A	-
KCNJ2	P63252	p.Gly146Ala	rs199473379	missense variant	-	NC_000017.11:g.70175476G>C	-
KCNJ2	P63252	p.Thr151Met	rs766588803	missense variant	-	NC_000017.11:g.70175491C>T	ExAC,gnomAD
KCNJ2	P63252	p.Cys154Phe	RCV000058317	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175500G>T	ClinVar
KCNJ2	P63252	p.Cys154Phe	rs199473380	missense variant	-	NC_000017.11:g.70175500G>T	-
KCNJ2	P63252	p.Ile156Val	rs767934529	missense variant	-	NC_000017.11:g.70175505A>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Phe159Ser	rs1236228202	missense variant	-	NC_000017.11:g.70175515T>C	TOPMed,gnomAD
KCNJ2	P63252	p.Phe159Leu	rs753215455	missense variant	-	NC_000017.11:g.70175516C>A	ExAC,gnomAD
KCNJ2	P63252	p.Met160Leu	rs1183624780	missense variant	-	NC_000017.11:g.70175517A>T	TOPMed,gnomAD
KCNJ2	P63252	p.Met160Val	rs1183624780	missense variant	-	NC_000017.11:g.70175517A>G	TOPMed,gnomAD
KCNJ2	P63252	p.Ile166Val	rs1257883069	missense variant	-	NC_000017.11:g.70175535A>G	gnomAD
KCNJ2	P63252	p.Val167Met	rs140147979	missense variant	-	NC_000017.11:g.70175538G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ile170Met	rs1555603943	missense variant	-	NC_000017.11:g.70175549C>G	-
KCNJ2	P63252	p.Ile170Met	RCV000617655	missense variant	-	NC_000017.11:g.70175549C>G	ClinVar
KCNJ2	P63252	p.Ile171Val	rs150326473	missense variant	-	NC_000017.11:g.70175550A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp172Asn	rs104894584	missense variant	Short QT syndrome 3 (SQT3)	NC_000017.11:g.70175553G>A	UniProt,dbSNP
KCNJ2	P63252	p.Asp172Asn	VAR_023842	missense variant	Short QT syndrome 3 (SQT3)	NC_000017.11:g.70175553G>A	UniProt
KCNJ2	P63252	p.Asp172Asn	RCV000058318	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70175553G>A	ClinVar
KCNJ2	P63252	p.Ala173Thr	rs778699148	missense variant	-	NC_000017.11:g.70175556G>A	ExAC
KCNJ2	P63252	p.Ile175Leu	rs761209037	missense variant	-	NC_000017.11:g.70175562A>C	gnomAD
KCNJ2	P63252	p.Gly177Ser	rs1555603949	missense variant	-	NC_000017.11:g.70175568G>A	-
KCNJ2	P63252	p.Gly177Ser	RCV000520397	missense variant	-	NC_000017.11:g.70175568G>A	ClinVar
KCNJ2	P63252	p.Ala178Ser	rs771965504	missense variant	-	NC_000017.11:g.70175571G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ala178Thr	rs771965504	missense variant	-	NC_000017.11:g.70175571G>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Val179Ile	rs779764704	missense variant	-	NC_000017.11:g.70175574G>A	ExAC,gnomAD
KCNJ2	P63252	p.Pro186Leu	rs104894581	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175596C>T	UniProt,dbSNP
KCNJ2	P63252	p.Pro186Leu	VAR_017854	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175596C>T	UniProt
KCNJ2	P63252	p.Pro186Leu	rs104894581	missense variant	-	NC_000017.11:g.70175596C>T	-
KCNJ2	P63252	p.Pro186Leu	RCV000058319	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175596C>T	ClinVar
KCNJ2	P63252	p.Arg189Gly	RCV000493398	missense variant	-	NC_000017.11:g.70175604A>G	ClinVar
KCNJ2	P63252	p.Arg189Lys	RCV000170980	missense variant	-	NC_000017.11:g.70175605G>A	ClinVar
KCNJ2	P63252	p.Arg189Ile	RCV000058320	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175605G>T	ClinVar
KCNJ2	P63252	p.Arg189Ile	rs199473381	missense variant	-	NC_000017.11:g.70175605G>T	-
KCNJ2	P63252	p.Arg189Gly	rs1131691475	missense variant	-	NC_000017.11:g.70175604A>G	-
KCNJ2	P63252	p.Arg189Lys	rs199473381	missense variant	-	NC_000017.11:g.70175605G>A	-
KCNJ2	P63252	p.Thr192Ile	RCV000058322	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175614C>T	ClinVar
KCNJ2	P63252	p.Thr192Ala	RCV000058321	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175613A>G	ClinVar
KCNJ2	P63252	p.Thr192Ile	rs199473655	missense variant	-	NC_000017.11:g.70175614C>T	-
KCNJ2	P63252	p.Thr192Ala	rs199473382	missense variant	-	NC_000017.11:g.70175613A>G	-
KCNJ2	P63252	p.Leu193His	RCV000518683	missense variant	-	NC_000017.11:g.70175617T>A	ClinVar
KCNJ2	P63252	p.Leu193His	rs1555603955	missense variant	-	NC_000017.11:g.70175617T>A	-
KCNJ2	P63252	p.Leu193His	RCV000807719	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175617T>A	ClinVar
KCNJ2	P63252	p.Ala202Thr	rs759793133	missense variant	-	NC_000017.11:g.70175643G>A	ExAC,gnomAD
KCNJ2	P63252	p.Met203Thr	rs1447067995	missense variant	-	NC_000017.11:g.70175647T>C	TOPMed
KCNJ2	P63252	p.Asp205Glu	rs767844416	missense variant	-	NC_000017.11:g.70175654C>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp205Gly	rs1378737445	missense variant	-	NC_000017.11:g.70175653A>G	TOPMed
KCNJ2	P63252	p.Gly206Ser	RCV000724926	missense variant	-	NC_000017.11:g.70175655G>A	ClinVar
KCNJ2	P63252	p.Gly206Ser	RCV000340562	missense variant	-	NC_000017.11:g.70175655G>A	ClinVar
KCNJ2	P63252	p.Gly206Asp	rs370571312	missense variant	-	NC_000017.11:g.70175656G>A	ESP,TOPMed
KCNJ2	P63252	p.Gly206Ser	rs141035459	missense variant	-	NC_000017.11:g.70175655G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Gly206Arg	rs141035459	missense variant	-	NC_000017.11:g.70175655G>C	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Gly206Ser	RCV000644781	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175655G>A	ClinVar
KCNJ2	P63252	p.Arg213Ter	rs764523123	stop gained	-	NC_000017.11:g.70175676C>T	ExAC,gnomAD
KCNJ2	P63252	p.Arg213Gln	rs1277440117	missense variant	-	NC_000017.11:g.70175677G>A	TOPMed,gnomAD
KCNJ2	P63252	p.Gly215Asp	RCV000458761	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175683G>A	ClinVar
KCNJ2	P63252	p.Gly215Asp	rs199473383	missense variant	-	NC_000017.11:g.70175683G>A	-
KCNJ2	P63252	p.Asn216His	RCV000009481	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175685A>C	ClinVar
KCNJ2	P63252	p.Asn216His	rs104894583	missense variant	-	NC_000017.11:g.70175685A>C	-
KCNJ2	P63252	p.Asn216His	rs104894583	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175685A>C	UniProt,dbSNP
KCNJ2	P63252	p.Asn216His	VAR_017855	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175685A>C	UniProt
KCNJ2	P63252	p.Leu217Pro	rs199473656	missense variant	-	NC_000017.11:g.70175689T>C	-
KCNJ2	P63252	p.Leu217Ile	rs1218827971	missense variant	-	NC_000017.11:g.70175688C>A	-
KCNJ2	P63252	p.Leu217Pro	RCV000058325	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175689T>C	ClinVar
KCNJ2	P63252	p.Arg218Trp	RCV000009474	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175691C>T	ClinVar
KCNJ2	P63252	p.Arg218Leu	rs199473384	missense variant	-	NC_000017.11:g.70175692G>T	-
KCNJ2	P63252	p.Arg218Pro	rs199473384	missense variant	-	NC_000017.11:g.70175692G>C	-
KCNJ2	P63252	p.Arg218Trp	rs104894578	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175691C>T	UniProt,dbSNP
KCNJ2	P63252	p.Arg218Trp	VAR_017856	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175691C>T	UniProt
KCNJ2	P63252	p.Arg218Trp	rs104894578	missense variant	-	NC_000017.11:g.70175691C>T	-
KCNJ2	P63252	p.Arg218Gln	rs199473384	missense variant	-	NC_000017.11:g.70175692G>A	-
KCNJ2	P63252	p.Arg218Leu	RCV000170983	missense variant	-	NC_000017.11:g.70175692G>T	ClinVar
KCNJ2	P63252	p.Arg218Leu	RCV000470921	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175692G>T	ClinVar
KCNJ2	P63252	p.Arg218Gln	RCV000058327	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175692G>A	ClinVar
KCNJ2	P63252	p.Arg218Pro	RCV000493695	missense variant	-	NC_000017.11:g.70175692G>C	ClinVar
KCNJ2	P63252	p.Arg218Trp	RCV000684775	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175691C>T	ClinVar
KCNJ2	P63252	p.Arg218Trp	RCV000170982	missense variant	-	NC_000017.11:g.70175691C>T	ClinVar
KCNJ2	P63252	p.Leu222Ser	RCV000657962	missense variant	-	NC_000017.11:g.70175704T>C	ClinVar
KCNJ2	P63252	p.Leu222Ser	rs1555603968	missense variant	-	NC_000017.11:g.70175704T>C	-
KCNJ2	P63252	p.Val223Gly	rs1555603969	missense variant	-	NC_000017.11:g.70175707T>G	-
KCNJ2	P63252	p.Val223Gly	RCV000547269	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175707T>G	ClinVar
KCNJ2	P63252	p.Val227Phe	rs199473657	missense variant	-	NC_000017.11:g.70175718G>T	-
KCNJ2	P63252	p.Val227Phe	RCV000058328	missense variant	Ventricular tachycardia	NC_000017.11:g.70175718G>T	ClinVar
KCNJ2	P63252	p.Arg228Gln	rs1234083049	missense variant	-	NC_000017.11:g.70175722G>A	-
KCNJ2	P63252	p.Arg228Ter	rs1060500053	stop gained	-	NC_000017.11:g.70175721C>T	gnomAD
KCNJ2	P63252	p.Arg228Ter	RCV000457313	nonsense	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175721C>T	ClinVar
KCNJ2	P63252	p.Ala229Ser	rs1401657394	missense variant	-	NC_000017.11:g.70175724G>T	gnomAD
KCNJ2	P63252	p.Leu232Phe	rs779856198	missense variant	-	NC_000017.11:g.70175733C>T	ExAC,gnomAD
KCNJ2	P63252	p.Arg235Gly	rs1467895883	missense variant	-	NC_000017.11:g.70175742A>G	TOPMed
KCNJ2	P63252	p.Thr237Ile	rs746781024	missense variant	-	NC_000017.11:g.70175749C>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Glu239Ter	rs1555603974	stop gained	-	NC_000017.11:g.70175754G>T	-
KCNJ2	P63252	p.Glu239Asp	rs943311933	missense variant	-	NC_000017.11:g.70175756A>T	TOPMed
KCNJ2	P63252	p.Glu239Ter	RCV000550694	nonsense	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175754G>T	ClinVar
KCNJ2	P63252	p.Asp246Tyr	rs748150144	missense variant	-	NC_000017.11:g.70175775G>T	ExAC,gnomAD
KCNJ2	P63252	p.Gln247Glu	rs1240310788	missense variant	-	NC_000017.11:g.70175778C>G	TOPMed
KCNJ2	P63252	p.Ile248Arg	rs1489055848	missense variant	-	NC_000017.11:g.70175782T>G	TOPMed,gnomAD
KCNJ2	P63252	p.Ile248Met	rs770964805	missense variant	-	NC_000017.11:g.70175783A>G	ExAC,gnomAD
KCNJ2	P63252	p.Ile248Thr	rs1489055848	missense variant	-	NC_000017.11:g.70175782T>C	TOPMed,gnomAD
KCNJ2	P63252	p.Asn251Ser	RCV000523981	missense variant	-	NC_000017.11:g.70175791A>G	ClinVar
KCNJ2	P63252	p.Asn251Ser	rs1261477163	missense variant	-	NC_000017.11:g.70175791A>G	gnomAD
KCNJ2	P63252	p.Val252Ala	rs1367370027	missense variant	-	NC_000017.11:g.70175794T>C	TOPMed
KCNJ2	P63252	p.Asp255Asn	rs1488131137	missense variant	-	NC_000017.11:g.70175802G>A	gnomAD
KCNJ2	P63252	p.Ile258Thr	rs587781007	missense variant	-	NC_000017.11:g.70175812T>C	-
KCNJ2	P63252	p.Ile258Met	rs1057524125	missense variant	-	NC_000017.11:g.70175813C>G	TOPMed,gnomAD
KCNJ2	P63252	p.Ile258Thr	RCV000126416	missense variant	-	NC_000017.11:g.70175812T>C	ClinVar
KCNJ2	P63252	p.Asp259Asn	rs1037493754	missense variant	-	NC_000017.11:g.70175814G>A	TOPMed,gnomAD
KCNJ2	P63252	p.Arg260His	rs199473385	missense variant	-	NC_000017.11:g.70175818G>A	gnomAD
KCNJ2	P63252	p.Arg260Pro	RCV000058329	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175818G>C	ClinVar
KCNJ2	P63252	p.Arg260Pro	rs199473385	missense variant	-	NC_000017.11:g.70175818G>C	gnomAD
KCNJ2	P63252	p.Ile261Val	rs774461588	missense variant	-	NC_000017.11:g.70175820A>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ile267Val	rs746052198	missense variant	-	NC_000017.11:g.70175838A>G	ExAC,gnomAD
KCNJ2	P63252	p.Ile269Lys	rs886042211	missense variant	-	NC_000017.11:g.70175845T>A	-
KCNJ2	P63252	p.Ile269Val	rs930806279	missense variant	-	NC_000017.11:g.70175844A>G	gnomAD
KCNJ2	P63252	p.Ile269Lys	RCV000364962	missense variant	-	NC_000017.11:g.70175845T>A	ClinVar
KCNJ2	P63252	p.Val270Ala	rs1359665656	missense variant	-	NC_000017.11:g.70175848T>C	gnomAD
KCNJ2	P63252	p.Asp274Val	RCV000170985	missense variant	-	NC_000017.11:g.70175860A>T	ClinVar
KCNJ2	P63252	p.Asp274Val	rs786205816	missense variant	-	NC_000017.11:g.70175860A>T	-
KCNJ2	P63252	p.Asp276Gly	rs1201835791	missense variant	-	NC_000017.11:g.70175866A>G	gnomAD
KCNJ2	P63252	p.Leu279Phe	rs772189737	missense variant	-	NC_000017.11:g.70175876A>C	ExAC,gnomAD
KCNJ2	P63252	p.Asp281Ala	rs527277177	missense variant	-	NC_000017.11:g.70175881A>C	1000Genomes
KCNJ2	P63252	p.Leu282Trp	RCV000559682	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175884T>G	ClinVar
KCNJ2	P63252	p.Leu282Trp	rs758092571	missense variant	-	NC_000017.11:g.70175884T>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ser283Asn	rs764589989	missense variant	-	NC_000017.11:g.70175887G>A	ExAC,gnomAD
KCNJ2	P63252	p.Gln285Ter	RCV000598639	nonsense	-	NC_000017.11:g.70175892C>T	ClinVar
KCNJ2	P63252	p.Gln285Ter	rs776976697	stop gained	-	NC_000017.11:g.70175892C>T	ExAC,gnomAD
KCNJ2	P63252	p.Gln285Glu	rs776976697	missense variant	-	NC_000017.11:g.70175892C>G	ExAC,gnomAD
KCNJ2	P63252	p.Asp286Glu	rs142750807	missense variant	-	NC_000017.11:g.70175897C>G	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp286Gly	rs762462064	missense variant	-	NC_000017.11:g.70175896A>G	ExAC,gnomAD
KCNJ2	P63252	p.Ile287Leu	rs758054840	missense variant	-	NC_000017.11:g.70175898A>C	ExAC,gnomAD
KCNJ2	P63252	p.Ala290Thr	rs895505794	missense variant	-	NC_000017.11:g.70175907G>A	gnomAD
KCNJ2	P63252	p.Ala290Ser	rs895505794	missense variant	-	NC_000017.11:g.70175907G>T	gnomAD
KCNJ2	P63252	p.Val295Ala	RCV000171667	missense variant	-	NC_000017.11:g.70175923T>C	ClinVar
KCNJ2	P63252	p.Val295Gly	rs201162707	missense variant	-	NC_000017.11:g.70175923T>G	ExAC,gnomAD
KCNJ2	P63252	p.Val295Ala	rs201162707	missense variant	-	NC_000017.11:g.70175923T>C	ExAC,gnomAD
KCNJ2	P63252	p.Glu299Val	rs786205817	missense variant	-	NC_000017.11:g.70175935A>T	-
KCNJ2	P63252	p.Glu299Val	RCV000170986	missense variant	-	NC_000017.11:g.70175935A>T	ClinVar
KCNJ2	P63252	p.Gly300Ala	RCV000058331	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175938G>C	ClinVar
KCNJ2	P63252	p.Gly300Val	RCV000058332	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175938G>T	ClinVar
KCNJ2	P63252	p.Gly300Val	rs104894579	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175938G>T	UniProt,dbSNP
KCNJ2	P63252	p.Gly300Val	VAR_017857	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175938G>T	UniProt
KCNJ2	P63252	p.Gly300Val	rs104894579	missense variant	-	NC_000017.11:g.70175938G>T	-
KCNJ2	P63252	p.Gly300Ala	rs104894579	missense variant	-	NC_000017.11:g.70175938G>C	-
KCNJ2	P63252	p.Gly300Asp	RCV000058330	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175938G>A	ClinVar
KCNJ2	P63252	p.Met301Arg	rs876661184	missense variant	-	NC_000017.11:g.70175941T>G	-
KCNJ2	P63252	p.Met301Leu	rs786205818	missense variant	-	NC_000017.11:g.70175940A>C	-
KCNJ2	P63252	p.Met301Val	rs786205818	missense variant	-	NC_000017.11:g.70175940A>G	-
KCNJ2	P63252	p.Met301Leu	RCV000435544	missense variant	-	NC_000017.11:g.70175940A>C	ClinVar
KCNJ2	P63252	p.Met301Arg	RCV000221740	missense variant	-	NC_000017.11:g.70175941T>G	ClinVar
KCNJ2	P63252	p.Met301Val	RCV000702725	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175940A>G	ClinVar
KCNJ2	P63252	p.Val302Met	rs104894582	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175943G>A	UniProt,dbSNP
KCNJ2	P63252	p.Val302Met	VAR_017858	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175943G>A	UniProt
KCNJ2	P63252	p.Val302Met	rs104894582	missense variant	-	NC_000017.11:g.70175943G>A	-
KCNJ2	P63252	p.Val302Met	RCV000009480	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175943G>A	ClinVar
KCNJ2	P63252	p.Glu303Lys	rs199473386	missense variant	-	NC_000017.11:g.70175946G>A	ExAC,gnomAD
KCNJ2	P63252	p.Glu303Lys	RCV000058334	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175946G>A	ClinVar
KCNJ2	P63252	p.Thr305Pro	rs199473387	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175952A>C	UniProt,dbSNP
KCNJ2	P63252	p.Thr305Pro	VAR_065864	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175952A>C	UniProt
KCNJ2	P63252	p.Thr305Pro	rs199473387	missense variant	-	NC_000017.11:g.70175952A>C	-
KCNJ2	P63252	p.Thr305Pro	RCV000058335	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175952A>C	ClinVar
KCNJ2	P63252	p.Thr305Ala	rs199473387	missense variant	-	NC_000017.11:g.70175952A>G	-
KCNJ2	P63252	p.Thr305Ala	RCV000678809	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175952A>G	ClinVar
KCNJ2	P63252	p.Ala306Thr	rs1453511355	missense variant	-	NC_000017.11:g.70175955G>A	TOPMed
KCNJ2	P63252	p.Met307Ile	rs199473658	missense variant	-	NC_000017.11:g.70175960G>A	-
KCNJ2	P63252	p.Met307Ile	RCV000058337	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175960G>A	ClinVar
KCNJ2	P63252	p.Met307Val	RCV000644782	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175958A>G	ClinVar
KCNJ2	P63252	p.Met307Val	rs1555603994	missense variant	-	NC_000017.11:g.70175958A>G	-
KCNJ2	P63252	p.Thr308Met	rs748053853	missense variant	-	NC_000017.11:g.70175962C>T	ExAC,gnomAD
KCNJ2	P63252	p.Thr309Ile	rs199473388	missense variant	-	NC_000017.11:g.70175965C>T	-
KCNJ2	P63252	p.Thr309Ile	RCV000058338	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175965C>T	ClinVar
KCNJ2	P63252	p.Arg312Cys	rs199473389	missense variant	-	NC_000017.11:g.70175973C>T	gnomAD
KCNJ2	P63252	p.Arg312His	rs786205820	missense variant	-	NC_000017.11:g.70175974G>A	-
KCNJ2	P63252	p.Arg312Cys	RCV000443262	missense variant	-	NC_000017.11:g.70175973C>T	ClinVar
KCNJ2	P63252	p.Arg312His	RCV000644779	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175974G>A	ClinVar
KCNJ2	P63252	p.Ser313Asn	rs1241493359	missense variant	-	NC_000017.11:g.70175977G>A	TOPMed
KCNJ2	P63252	p.Ser314_Tyr315del	VAR_017859	inframe_deletion	Long QT syndrome 7 (LQT7) [MIM:170390]	-	UniProt
KCNJ2	P63252	p.Ala317Thr	rs778898178	missense variant	-	NC_000017.11:g.70175988G>A	ExAC,gnomAD
KCNJ2	P63252	p.Asn318Ser	RCV000148541	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175992A>G	ClinVar
KCNJ2	P63252	p.Asn318Ser	rs367560052	missense variant	-	NC_000017.11:g.70175992A>G	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Leu321Val	rs1489001971	missense variant	-	NC_000017.11:g.70176000C>G	TOPMed
KCNJ2	P63252	p.Trp322Cys	rs797044842	missense variant	-	NC_000017.11:g.70176005G>C	-
KCNJ2	P63252	p.Trp322Cys	RCV000193904	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176005G>C	ClinVar
KCNJ2	P63252	p.Arg325Cys	RCV000496264	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176012C>T	ClinVar
KCNJ2	P63252	p.Arg325Cys	RCV000816436	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176012C>T	ClinVar
KCNJ2	P63252	p.Arg325Cys	RCV000170995	missense variant	-	NC_000017.11:g.70176012C>T	ClinVar
KCNJ2	P63252	p.Arg325His	rs1555604000	missense variant	-	NC_000017.11:g.70176013G>A	-
KCNJ2	P63252	p.Arg325Cys	rs202067116	missense variant	-	NC_000017.11:g.70176012C>T	1000Genomes,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg325Cys	RCV000208475	missense variant	Ventricular fibrillation	NC_000017.11:g.70176012C>T	ClinVar
KCNJ2	P63252	p.Arg325His	RCV000498871	missense variant	-	NC_000017.11:g.70176013G>A	ClinVar
KCNJ2	P63252	p.Tyr326Asn	rs786205819	missense variant	-	NC_000017.11:g.70176015T>A	-
KCNJ2	P63252	p.Tyr326Asn	RCV000170989	missense variant	-	NC_000017.11:g.70176015T>A	ClinVar
KCNJ2	P63252	p.Glu327Lys	rs1378491441	missense variant	-	NC_000017.11:g.70176018G>A	gnomAD
KCNJ2	P63252	p.Val329Leu	rs747299642	missense variant	-	NC_000017.11:g.70176024G>C	ExAC,gnomAD
KCNJ2	P63252	p.Leu330Phe	rs768884407	missense variant	-	NC_000017.11:g.70176027C>T	ExAC,TOPMed
KCNJ2	P63252	p.Lys334Thr	rs1356573793	missense variant	-	NC_000017.11:g.70176040A>C	gnomAD
KCNJ2	P63252	p.Ser342Cys	rs1320510274	missense variant	-	NC_000017.11:g.70176064C>G	TOPMed,gnomAD
KCNJ2	P63252	p.Ser342Phe	rs1320510274	missense variant	-	NC_000017.11:g.70176064C>T	TOPMed,gnomAD
KCNJ2	P63252	p.Tyr348Ter	rs764729208	stop gained	-	NC_000017.11:g.70176082dup	ExAC,gnomAD
KCNJ2	P63252	p.Glu349Lys	RCV000170990	missense variant	-	NC_000017.11:g.70176084G>A	ClinVar
KCNJ2	P63252	p.Glu349Lys	RCV000689013	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176084G>A	ClinVar
KCNJ2	P63252	p.Glu349Lys	rs375330016	missense variant	-	NC_000017.11:g.70176084G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro351Ser	rs199473659	missense variant	-	NC_000017.11:g.70176090C>T	-
KCNJ2	P63252	p.Pro351Ser	RCV000058291	missense variant	Congenital long QT syndrome	NC_000017.11:g.70176090C>T	ClinVar
KCNJ2	P63252	p.Thr353Ile	rs1183452643	missense variant	-	NC_000017.11:g.70176097C>T	gnomAD
KCNJ2	P63252	p.Thr353Ala	rs765979891	missense variant	-	NC_000017.11:g.70176096A>G	ExAC
KCNJ2	P63252	p.Leu355Phe	rs1411366891	missense variant	-	NC_000017.11:g.70176102C>T	gnomAD
KCNJ2	P63252	p.Cys356Phe	rs368406938	missense variant	-	NC_000017.11:g.70176106G>T	ESP,gnomAD
KCNJ2	P63252	p.Ala362Gly	rs1340759524	missense variant	-	NC_000017.11:g.70176124C>G	gnomAD
KCNJ2	P63252	p.Ala362Thr	rs752494731	missense variant	-	NC_000017.11:g.70176123G>A	ExAC,gnomAD
KCNJ2	P63252	p.Lys364Arg	RCV000786146	missense variant	-	NC_000017.11:g.70176130A>G	ClinVar
KCNJ2	P63252	p.Lys364Asn	rs755990211	missense variant	-	NC_000017.11:g.70176131G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Lys364Arg	rs1060500054	missense variant	-	NC_000017.11:g.70176130A>G	-
KCNJ2	P63252	p.Lys364Arg	RCV000464347	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176130A>G	ClinVar
KCNJ2	P63252	p.Lys365Gln	rs777674628	missense variant	-	NC_000017.11:g.70176132A>C	ExAC,gnomAD
KCNJ2	P63252	p.Leu368Ter	RCV000689975	frameshift	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176141del	ClinVar
KCNJ2	P63252	p.Asn370Lys	rs758380748	missense variant	-	NC_000017.11:g.70176149T>G	ExAC
KCNJ2	P63252	p.Ala371Glu	rs780233256	missense variant	-	NC_000017.11:g.70176151C>A	ExAC,gnomAD
KCNJ2	P63252	p.Ala371Glu	RCV000539970	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176151C>A	ClinVar
KCNJ2	P63252	p.Asn372Ser	rs1279418065	missense variant	-	NC_000017.11:g.70176154A>G	gnomAD
KCNJ2	P63252	p.Tyr376Cys	rs1320580224	missense variant	-	NC_000017.11:g.70176166A>G	gnomAD
KCNJ2	P63252	p.Glu387Lys	rs1443012108	missense variant	-	NC_000017.11:g.70176198G>A	gnomAD
KCNJ2	P63252	p.Asp389Gly	rs781633153	missense variant	-	NC_000017.11:g.70176205A>G	ExAC,gnomAD
KCNJ2	P63252	p.Asp389Asn	rs140053197	missense variant	-	NC_000017.11:g.70176204G>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp389His	rs140053197	missense variant	-	NC_000017.11:g.70176204G>C	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Ser390Ile	rs748535146	missense variant	-	NC_000017.11:g.70176208G>T	ExAC,gnomAD
KCNJ2	P63252	p.Val394Ala	rs1476792410	missense variant	-	NC_000017.11:g.70176220T>C	gnomAD
KCNJ2	P63252	p.Ser397Asn	RCV000685930	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176229G>A	ClinVar
KCNJ2	P63252	p.Ser399Gly	rs1282460632	missense variant	-	NC_000017.11:g.70176234A>G	gnomAD
KCNJ2	P63252	p.Thr400Met	RCV000148542	missense variant	Long QT syndrome (LQTS)	NC_000017.11:g.70176238C>T	ClinVar
KCNJ2	P63252	p.Thr400Met	RCV000170991	missense variant	-	NC_000017.11:g.70176238C>T	ClinVar
KCNJ2	P63252	p.Thr400Ala	rs1402297652	missense variant	-	NC_000017.11:g.70176237A>G	gnomAD
KCNJ2	P63252	p.Thr400Arg	rs144022753	missense variant	-	NC_000017.11:g.70176238C>G	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr400Met	rs144022753	missense variant	-	NC_000017.11:g.70176238C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr400Met	RCV000621624	missense variant	-	NC_000017.11:g.70176238C>T	ClinVar
KCNJ2	P63252	p.Asp401Gly	rs1358172761	missense variant	-	NC_000017.11:g.70176241A>G	gnomAD
KCNJ2	P63252	p.Thr402Met	RCV000698640	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176244C>T	ClinVar
KCNJ2	P63252	p.Thr402Met	RCV000627126	missense variant	-	NC_000017.11:g.70176244C>T	ClinVar
KCNJ2	P63252	p.Thr402Met	rs759070406	missense variant	-	NC_000017.11:g.70176244C>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr402Lys	rs759070406	missense variant	-	NC_000017.11:g.70176244C>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Thr402Met	RCV000619357	missense variant	-	NC_000017.11:g.70176244C>T	ClinVar
KCNJ2	P63252	p.Pro403Thr	rs752406680	missense variant	-	NC_000017.11:g.70176246C>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro404Arg	rs760459401	missense variant	-	NC_000017.11:g.70176250C>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asp405Tyr	rs1195342933	missense variant	-	NC_000017.11:g.70176252G>T	gnomAD
KCNJ2	P63252	p.Ile406Thr	rs202149686	missense variant	-	NC_000017.11:g.70176256T>C	-
KCNJ2	P63252	p.Ile406Thr	RCV000171668	missense variant	-	NC_000017.11:g.70176256T>C	ClinVar
KCNJ2	P63252	p.Leu408Val	rs753757610	missense variant	-	NC_000017.11:g.70176261C>G	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asn410Ser	rs141069645	missense variant	-	NC_000017.11:g.70176268A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Asn410Ser	RCV000755556	missense variant	-	NC_000017.11:g.70176268A>G	ClinVar
KCNJ2	P63252	p.Ala412Ser	rs1485455146	missense variant	-	NC_000017.11:g.70176273G>T	TOPMed,gnomAD
KCNJ2	P63252	p.Ser413Cys	rs910587867	missense variant	-	NC_000017.11:g.70176276A>T	TOPMed
KCNJ2	P63252	p.Ser413Ile	rs779960704	missense variant	-	NC_000017.11:g.70176277G>T	ExAC,gnomAD
KCNJ2	P63252	p.Ser413Asn	rs779960704	missense variant	-	NC_000017.11:g.70176277G>A	ExAC,gnomAD
KCNJ2	P63252	p.Pro415His	rs373799322	missense variant	-	NC_000017.11:g.70176283C>A	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro415Leu	rs373799322	missense variant	-	NC_000017.11:g.70176283C>T	ESP,ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro415Leu	RCV000757418	missense variant	-	NC_000017.11:g.70176283C>T	ClinVar
KCNJ2	P63252	p.Pro420Leu	RCV000248675	missense variant	-	NC_000017.11:g.70176298C>T	ClinVar
KCNJ2	P63252	p.Pro420Leu	RCV000350551	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176298C>T	ClinVar
KCNJ2	P63252	p.Pro420Leu	rs749707062	missense variant	-	NC_000017.11:g.70176298C>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Pro420Leu	RCV000293237	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70176298C>T	ClinVar
KCNJ2	P63252	p.Pro420Leu	RCV000407751	missense variant	Familial atrial fibrillation	NC_000017.11:g.70176298C>T	ClinVar
KCNJ2	P63252	p.Arg422Pro	rs199473390	missense variant	-	NC_000017.11:g.70176304G>C	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg422Leu	RCV000058292	missense variant	Congenital long QT syndrome	NC_000017.11:g.70176304G>T	ClinVar
KCNJ2	P63252	p.Arg422Leu	rs199473390	missense variant	-	NC_000017.11:g.70176304G>T	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg422Gln	rs199473390	missense variant	-	NC_000017.11:g.70176304G>A	ExAC,TOPMed,gnomAD
KCNJ2	P63252	p.Arg422Trp	rs1478741381	missense variant	-	NC_000017.11:g.70176303C>T	gnomAD
KCNJ2	P63252	p.Arg423Gln	RCV000208186	missense variant	Long QT syndrome (LQTS)	NC_000017.11:g.70176307G>A	ClinVar
KCNJ2	P63252	p.Arg423Gln	rs745372216	missense variant	-	NC_000017.11:g.70176307G>A	ExAC,gnomAD
KCNJ2	P63252	p.Ser425Leu	rs768959311	missense variant	-	NC_000017.11:g.70176313C>T	ExAC,gnomAD
PITX1	P78337	p.Asp2Asn	rs1225728215	missense variant	-	NC_000005.10:g.135033878C>T	TOPMed
PITX1	P78337	p.Ala3Thr	rs574730283	missense variant	-	NC_000005.10:g.135033875C>T	1000Genomes,ExAC,gnomAD
PITX1	P78337	p.Ala3Val	rs748627311	missense variant	-	NC_000005.10:g.135033874G>A	ExAC,gnomAD
PITX1	P78337	p.Ala3Ser	rs574730283	missense variant	-	NC_000005.10:g.135033875C>A	1000Genomes,ExAC,gnomAD
PITX1	P78337	p.Gly6Arg	rs553290196	missense variant	-	NC_000005.10:g.135033866C>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly6Ala	rs1256022922	missense variant	-	NC_000005.10:g.135033865C>G	TOPMed
PITX1	P78337	p.Gly6Arg	rs553290196	missense variant	-	NC_000005.10:g.135033866C>T	1000Genomes,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly7Val	rs1300560831	missense variant	-	NC_000005.10:g.135033862C>A	TOPMed,gnomAD
PITX1	P78337	p.Gly7Asp	rs1300560831	missense variant	-	NC_000005.10:g.135033862C>T	TOPMed,gnomAD
PITX1	P78337	p.Gly7Cys	rs1441167153	missense variant	-	NC_000005.10:g.135033863C>A	TOPMed
PITX1	P78337	p.Ser9Asn	rs780936376	missense variant	-	NC_000005.10:g.135033856C>T	ExAC,gnomAD
PITX1	P78337	p.Glu11Gly	rs942423669	missense variant	-	NC_000005.10:g.135033850T>C	TOPMed,gnomAD
PITX1	P78337	p.Arg12Gly	rs1166881422	missense variant	-	NC_000005.10:g.135033848G>C	TOPMed
PITX1	P78337	p.Leu13Val	rs535018917	missense variant	-	NC_000005.10:g.135033845G>C	1000Genomes,TOPMed,gnomAD
PITX1	P78337	p.Pro14Ala	rs564413063	missense variant	-	NC_000005.10:g.135033842G>C	TOPMed,gnomAD
PITX1	P78337	p.Gly16Trp	rs1454748987	missense variant	-	NC_000005.10:g.135033836C>A	gnomAD
PITX1	P78337	p.Pro19Arg	rs1399864891	missense variant	-	NC_000005.10:g.135033826G>C	TOPMed
PITX1	P78337	p.Pro21Ser	rs751390239	missense variant	-	NC_000005.10:g.135033821G>A	ExAC,gnomAD
PITX1	P78337	p.Pro23Leu	rs763753483	missense variant	-	NC_000005.10:g.135033814G>A	ExAC,gnomAD
PITX1	P78337	p.His25Pro	rs758332384	missense variant	-	NC_000005.10:g.135033808T>G	ExAC,gnomAD
PITX1	P78337	p.His25Tyr	rs1277707678	missense variant	-	NC_000005.10:g.135033809G>A	gnomAD
PITX1	P78337	p.Gly28Trp	rs1312444477	missense variant	-	NC_000005.10:g.135033800C>A	TOPMed
PITX1	P78337	p.Ala30Thr	rs765150075	missense variant	-	NC_000005.10:g.135033794C>T	ExAC,gnomAD
PITX1	P78337	p.Phe31Leu	rs1326372885	missense variant	-	NC_000005.10:g.135033789G>T	gnomAD
PITX1	P78337	p.Ala34Thr	rs1354010951	missense variant	-	NC_000005.10:g.135033782C>T	gnomAD
PITX1	P78337	p.Ala34Asp	rs1312487179	missense variant	-	NC_000005.10:g.135033781G>T	gnomAD
PITX1	P78337	p.Arg35Gly	rs776544846	missense variant	-	NC_000005.10:g.135033779G>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg35Pro	rs1377286597	missense variant	-	NC_000005.10:g.135033778C>G	TOPMed,gnomAD
PITX1	P78337	p.Arg35Gln	rs1377286597	missense variant	-	NC_000005.10:g.135033778C>T	TOPMed,gnomAD
PITX1	P78337	p.Arg35Trp	rs776544846	missense variant	-	NC_000005.10:g.135033779G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ala37Thr	rs1166246760	missense variant	-	NC_000005.10:g.135033773C>T	TOPMed,gnomAD
PITX1	P78337	p.Asp38Glu	rs1372460130	missense variant	-	NC_000005.10:g.135033768G>T	gnomAD
PITX1	P78337	p.Pro39Ala	rs766675727	missense variant	-	NC_000005.10:g.135033767G>C	ExAC,gnomAD
PITX1	P78337	p.Arg40Leu	rs772499567	missense variant	-	NC_000005.10:g.135033763C>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg40Cys	rs760760729	missense variant	-	NC_000005.10:g.135033764G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg40His	rs772499567	missense variant	-	NC_000005.10:g.135033763C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg40Gly	rs760760729	missense variant	-	NC_000005.10:g.135033764G>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Glu41Lys	rs1485796234	missense variant	-	NC_000005.10:g.135033761C>T	gnomAD
PITX1	P78337	p.Pro42Leu	rs1375721728	missense variant	-	NC_000005.10:g.135033757G>A	TOPMed
PITX1	P78337	p.Pro42Ala	COSM3850221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135033758G>C	NCI-TCGA Cosmic
PITX1	P78337	p.Glu44Asp	rs1338227833	missense variant	-	NC_000005.10:g.135033750C>A	gnomAD
PITX1	P78337	p.Asn45Lys	rs989679028	missense variant	-	NC_000005.10:g.135033747G>C	TOPMed,gnomAD
PITX1	P78337	p.Ser46Pro	rs1230333301	missense variant	-	NC_000005.10:g.135033746A>G	gnomAD
PITX1	P78337	p.Ala47Ser	rs780516973	missense variant	-	NC_000005.10:g.135033743C>A	ExAC,gnomAD
PITX1	P78337	p.Ser48Thr	rs1357631864	missense variant	-	NC_000005.10:g.135033739C>G	gnomAD
PITX1	P78337	p.Ser48Gly	rs1415568856	missense variant	-	NC_000005.10:g.135033740T>C	gnomAD
PITX1	P78337	p.Ser50Pro	rs746572751	missense variant	-	NC_000005.10:g.135033734A>G	ExAC,gnomAD
PITX1	P78337	p.Ser50Thr	rs746572751	missense variant	-	NC_000005.10:g.135033734A>T	ExAC,gnomAD
PITX1	P78337	p.Asp52Glu	rs200290396	missense variant	-	NC_000005.10:g.135033726G>C	TOPMed,gnomAD
PITX1	P78337	p.Asp52Asn	rs1390857984	missense variant	-	NC_000005.10:g.135033728C>T	gnomAD
PITX1	P78337	p.Thr53Met	rs777634577	missense variant	-	NC_000005.10:g.135033724G>A	ExAC,gnomAD
PITX1	P78337	p.Glu54Asp	rs1294797416	missense variant	-	NC_000005.10:g.135033720C>G	TOPMed
PITX1	P78337	p.Leu55Arg	rs1367740243	missense variant	-	NC_000005.10:g.135033718A>C	TOPMed
PITX1	P78337	p.Pro56Arg	rs1385869878	missense variant	-	NC_000005.10:g.135033715G>C	TOPMed
PITX1	P78337	p.Arg60His	rs1192736152	missense variant	-	NC_000005.10:g.135031499C>T	TOPMed,gnomAD
PITX1	P78337	p.Arg60Ser	rs779923896	missense variant	-	NC_000005.10:g.135031500G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg60Cys	rs779923896	missense variant	-	NC_000005.10:g.135031500G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly61Ser	rs756056039	missense variant	-	NC_000005.10:g.135031497C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly62Trp	rs1056762111	missense variant	-	NC_000005.10:g.135031494C>A	TOPMed
PITX1	P78337	p.Pro67Leu	rs1301233293	missense variant	-	NC_000005.10:g.135031478G>A	gnomAD
PITX1	P78337	p.Glu68Lys	rs757554141	missense variant	-	NC_000005.10:g.135031476C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ser70Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135031469C>T	NCI-TCGA
PITX1	P78337	p.Gly71Asp	rs775734536	missense variant	-	NC_000005.10:g.135031466C>T	TOPMed,gnomAD
PITX1	P78337	p.Ala72Val	rs139844695	missense variant	-	NC_000005.10:g.135031463G>A	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly73Glu	rs1365985651	missense variant	-	NC_000005.10:g.135031460C>T	gnomAD
PITX1	P78337	p.Gly76Ser	rs758752422	missense variant	-	NC_000005.10:g.135031452C>T	ExAC,gnomAD
PITX1	P78337	p.Cys77Trp	rs753078578	missense variant	-	NC_000005.10:g.135031447G>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly78Ser	rs765717973	missense variant	-	NC_000005.10:g.135031446C>T	ExAC,gnomAD
PITX1	P78337	p.Gly79Cys	rs772743808	missense variant	-	NC_000005.10:g.135031443C>A	ExAC,gnomAD
PITX1	P78337	p.Ala80Thr	rs1378101551	missense variant	-	NC_000005.10:g.135031440C>T	gnomAD
PITX1	P78337	p.Asp82Asn	rs766948741	missense variant	-	NC_000005.10:g.135031434C>T	ExAC,gnomAD
PITX1	P78337	p.Ala84Asp	RCV000306490	missense variant	-	NC_000005.10:g.135031427G>T	ClinVar
PITX1	P78337	p.Ala84Asp	rs201133610	missense variant	-	NC_000005.10:g.135031427G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Lys86Thr	rs1246339922	missense variant	-	NC_000005.10:g.135031421T>G	TOPMed
PITX1	P78337	p.Lys86Gln	rs1260855740	missense variant	-	NC_000005.10:g.135031422T>G	gnomAD
PITX1	P78337	p.Lys88Gln	rs200888898	missense variant	-	NC_000005.10:g.135031416T>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Lys88Gln	RCV000319849	missense variant	-	NC_000005.10:g.135031416T>G	ClinVar
PITX1	P78337	p.Gln89Glu	rs1013698423	missense variant	-	NC_000005.10:g.135031413G>C	TOPMed
PITX1	P78337	p.Arg91Gln	rs1254713180	missense variant	-	NC_000005.10:g.135031406C>T	TOPMed,gnomAD
PITX1	P78337	p.Arg93His	COSM273112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135031400C>T	NCI-TCGA Cosmic
PITX1	P78337	p.His95Gln	rs1477746070	missense variant	-	NC_000005.10:g.135031393G>T	TOPMed,gnomAD
PITX1	P78337	p.Thr97Lys	rs749085613	missense variant	-	NC_000005.10:g.135031388G>T	ExAC,gnomAD
PITX1	P78337	p.Thr97Ala	rs1375931542	missense variant	-	NC_000005.10:g.135031389T>C	gnomAD
PITX1	P78337	p.Ser98Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135031386T>C	NCI-TCGA
PITX1	P78337	p.Glu105Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135031363C>A	NCI-TCGA
PITX1	P78337	p.Glu105Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135031365C>T	NCI-TCGA
PITX1	P78337	p.Ala106Thr	rs1353831820	missense variant	-	NC_000005.10:g.135031362C>T	gnomAD
PITX1	P78337	p.Thr107Met	rs1312538588	missense variant	-	NC_000005.10:g.135031358G>A	gnomAD
PITX1	P78337	p.Gln109Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135031352T>C	NCI-TCGA
PITX1	P78337	p.Arg112Gly	rs1404510232	missense variant	-	NC_000005.10:g.135031344G>C	gnomAD
PITX1	P78337	p.Asp115Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135031335C>T	NCI-TCGA
PITX1	P78337	p.Met116Ile	rs1422587604	missense variant	-	NC_000005.10:g.135031330C>A	gnomAD
PITX1	P78337	p.Met116Ile	rs1422587604	missense variant	-	NC_000005.10:g.135031330C>T	gnomAD
PITX1	P78337	p.Ser117Gly	rs1262985450	missense variant	-	NC_000005.10:g.135031329T>C	gnomAD
PITX1	P78337	p.Met118Val	rs571940665	missense variant	-	NC_000005.10:g.135031326T>C	1000Genomes,ExAC,gnomAD
PITX1	P78337	p.Arg119Thr	rs1397161276	missense variant	-	NC_000005.10:g.135031322C>G	TOPMed
PITX1	P78337	p.Glu120Asp	rs550233065	missense variant	-	NC_000005.10:g.135031318C>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Val124Leu	rs753029316	missense variant	-	NC_000005.10:g.135031308C>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Val124Met	rs753029316	missense variant	-	NC_000005.10:g.135031308C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Val124Leu	rs753029316	missense variant	-	NC_000005.10:g.135031308C>G	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Val124Ala	rs1340197341	missense variant	-	NC_000005.10:g.135031307A>G	TOPMed
PITX1	P78337	p.Trp125Leu	rs1257740467	missense variant	-	NC_000005.10:g.135031304C>A	gnomAD
PITX1	P78337	p.Asn127Asp	rs1480604875	missense variant	-	NC_000005.10:g.135031299T>C	gnomAD
PITX1	P78337	p.Asn127Lys	rs1243111381	missense variant	-	NC_000005.10:g.135031297G>T	TOPMed
PITX1	P78337	p.Glu130Lys	rs121909109	missense variant	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)	NC_000005.10:g.135031290C>T	UniProt,dbSNP
PITX1	P78337	p.Glu130Lys	VAR_058113	missense variant	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)	NC_000005.10:g.135031290C>T	UniProt
PITX1	P78337	p.Glu130Lys	rs121909109	missense variant	-	NC_000005.10:g.135031290C>T	-
PITX1	P78337	p.Glu130Lys	RCV000007934	missense variant	Talipes equinovarus (CCF)	NC_000005.10:g.135031290C>T	ClinVar
PITX1	P78337	p.Pro131Ser	rs1200875885	missense variant	-	NC_000005.10:g.135031287G>A	TOPMed,gnomAD
PITX1	P78337	p.Pro131Leu	rs754287927	missense variant	-	NC_000005.10:g.135031286G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg132Cys	rs761379519	missense variant	-	NC_000005.10:g.135031284G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg132His	rs1342270668	missense variant	-	NC_000005.10:g.135031283C>T	TOPMed,gnomAD
PITX1	P78337	p.Arg134Gln	rs987364689	missense variant	-	NC_000005.10:g.135031277C>T	TOPMed
PITX1	P78337	p.Val135Ile	rs1476602015	missense variant	-	NC_000005.10:g.135029321C>T	gnomAD
PITX1	P78337	p.Val135Ala	rs1345681080	missense variant	-	NC_000005.10:g.135029320A>G	gnomAD
PITX1	P78337	p.Asn139Thr	RCV000177164	missense variant	-	NC_000005.10:g.135029308T>G	ClinVar
PITX1	P78337	p.Asn139Thr	rs794727495	missense variant	-	NC_000005.10:g.135029308T>G	-
PITX1	P78337	p.Arg141Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.135029303G>A	NCI-TCGA
PITX1	P78337	p.Arg145His	rs1399013260	missense variant	-	NC_000005.10:g.135029290C>T	gnomAD
PITX1	P78337	p.Lys146Ter	NCI-TCGA novel	frameshift	-	NC_000005.10:g.135029288_135029289insA	NCI-TCGA
PITX1	P78337	p.Arg147His	rs1360539859	missense variant	-	NC_000005.10:g.135029284C>T	TOPMed,gnomAD
PITX1	P78337	p.Arg147Ser	COSM735648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029285G>T	NCI-TCGA Cosmic
PITX1	P78337	p.Arg147Cys	COSM1060971	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029285G>A	NCI-TCGA Cosmic
PITX1	P78337	p.Arg147Pro	rs1360539859	missense variant	-	NC_000005.10:g.135029284C>G	TOPMed,gnomAD
PITX1	P78337	p.Arg149His	rs1433362036	missense variant	-	NC_000005.10:g.135029278C>T	TOPMed,gnomAD
PITX1	P78337	p.Arg149Cys	rs1347444403	missense variant	-	NC_000005.10:g.135029279G>A	TOPMed
PITX1	P78337	p.Gln152Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.135029270G>A	NCI-TCGA
PITX1	P78337	p.Cys156Trp	rs1279414350	missense variant	-	NC_000005.10:g.135029256G>C	TOPMed
PITX1	P78337	p.Cys156AlaPheSerTerUnkUnk	COSM1060969	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.135029259C>-	NCI-TCGA Cosmic
PITX1	P78337	p.Gly158Ser	rs1173728974	missense variant	-	NC_000005.10:g.135029252C>T	gnomAD
PITX1	P78337	p.Gly159Ser	rs752113290	missense variant	-	NC_000005.10:g.135029249C>T	ExAC,gnomAD
PITX1	P78337	p.Gly159Val	rs1218709956	missense variant	-	NC_000005.10:g.135029248C>A	TOPMed
PITX1	P78337	p.Tyr160Cys	rs765028752	missense variant	-	NC_000005.10:g.135029245T>C	ExAC,gnomAD
PITX1	P78337	p.Pro162Gln	rs1265370549	missense variant	-	NC_000005.10:g.135029239G>T	TOPMed,gnomAD
PITX1	P78337	p.Gln163Pro	rs1441963613	missense variant	-	NC_000005.10:g.135029236T>G	gnomAD
PITX1	P78337	p.Gln163His	rs1277812715	missense variant	-	NC_000005.10:g.135029235C>G	TOPMed,gnomAD
PITX1	P78337	p.Val168Ala	rs1219808304	missense variant	-	NC_000005.10:g.135029221A>G	gnomAD
PITX1	P78337	p.Tyr171Ter	RCV000760809	nonsense	-	NC_000005.10:g.135029211G>C	ClinVar
PITX1	P78337	p.Tyr171Ter	COSM6101923	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.135029211G>T	NCI-TCGA Cosmic
PITX1	P78337	p.Glu172Lys	rs766215212	missense variant	-	NC_000005.10:g.135029210C>T	ExAC,gnomAD
PITX1	P78337	p.Val174Met	rs1217579831	missense variant	-	NC_000005.10:g.135029204C>T	gnomAD
PITX1	P78337	p.Tyr175His	rs760706230	missense variant	-	NC_000005.10:g.135029201A>G	ExAC,gnomAD
PITX1	P78337	p.Ala176Thr	rs773259804	missense variant	-	NC_000005.10:g.135029198C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Trp184Arg	rs933528781	missense variant	-	NC_000005.10:g.135029174A>G	TOPMed,gnomAD
PITX1	P78337	p.Trp184Ser	rs1212664689	missense variant	-	NC_000005.10:g.135029173C>G	gnomAD
PITX1	P78337	p.Ala186Thr	rs774275193	missense variant	-	NC_000005.10:g.135029168C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ala186Ser	rs774275193	missense variant	-	NC_000005.10:g.135029168C>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Lys187Glu	rs1417744334	missense variant	-	NC_000005.10:g.135029165T>C	gnomAD
PITX1	P78337	p.Lys187Arg	rs1270507178	missense variant	-	NC_000005.10:g.135029164T>C	gnomAD
PITX1	P78337	p.Ser188Gly	rs768895777	missense variant	-	NC_000005.10:g.135029162T>C	ExAC,gnomAD
PITX1	P78337	p.Leu189Pro	rs749444294	missense variant	-	NC_000005.10:g.135029158A>G	ExAC,gnomAD
PITX1	P78337	p.Ala190GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.135029157_135029158insA	NCI-TCGA
PITX1	P78337	p.Pro191Thr	COSM6101924	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029153G>T	NCI-TCGA Cosmic
PITX1	P78337	p.Ala192Val	rs201656428	missense variant	-	NC_000005.10:g.135029149G>A	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Pro193Gln	rs1472506383	missense variant	-	NC_000005.10:g.135029146G>T	gnomAD
PITX1	P78337	p.Leu194Val	rs770201995	missense variant	-	NC_000005.10:g.135029144G>C	ExAC,gnomAD
PITX1	P78337	p.Lys197Asn	rs1470337405	missense variant	-	NC_000005.10:g.135029133C>G	gnomAD
PITX1	P78337	p.Phe199Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135029129A>G	NCI-TCGA
PITX1	P78337	p.Phe201Ser	rs1399567797	missense variant	-	NC_000005.10:g.135029122A>G	gnomAD
PITX1	P78337	p.Phe201Leu	rs370544754	missense variant	-	NC_000005.10:g.135029123A>G	ESP,ExAC,TOPMed
PITX1	P78337	p.Phe202Leu	rs886765208	missense variant	-	NC_000005.10:g.135029120A>G	gnomAD
PITX1	P78337	p.Ser204Phe	COSM3608612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029113G>A	NCI-TCGA Cosmic
PITX1	P78337	p.Ser204Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135029113G>T	NCI-TCGA
PITX1	P78337	p.Met205Arg	rs766120302	missense variant	-	NC_000005.10:g.135029110A>C	ExAC,gnomAD
PITX1	P78337	p.Met205Leu	rs149498254	missense variant	-	NC_000005.10:g.135029111T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Met205Val	rs149498254	missense variant	-	NC_000005.10:g.135029111T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Pro207Leu	rs147021244	missense variant	-	NC_000005.10:g.135029104G>A	1000Genomes,gnomAD
PITX1	P78337	p.Pro207Ala	rs1450755660	missense variant	-	NC_000005.10:g.135029105G>C	gnomAD
PITX1	P78337	p.Pro207Gln	rs147021244	missense variant	-	NC_000005.10:g.135029104G>T	1000Genomes,gnomAD
PITX1	P78337	p.Ser209Pro	rs1349932321	missense variant	-	NC_000005.10:g.135029099A>G	TOPMed
PITX1	P78337	p.Ser209Leu	COSM3918644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029098G>A	NCI-TCGA Cosmic
PITX1	P78337	p.Gln211Arg	rs1466455949	missense variant	-	NC_000005.10:g.135029092T>C	gnomAD
PITX1	P78337	p.Ser212Thr	rs756005087	missense variant	-	NC_000005.10:g.135029090A>T	ExAC
PITX1	P78337	p.Met213Val	rs138042194	missense variant	-	NC_000005.10:g.135029087T>C	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Met213Lys	rs373267473	missense variant	-	NC_000005.10:g.135029086A>T	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Phe214Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135029082G>T	NCI-TCGA
PITX1	P78337	p.Ala216Ser	rs373526031	missense variant	-	NC_000005.10:g.135029078C>A	ESP,TOPMed,gnomAD
PITX1	P78337	p.Thr224Ser	rs1452998414	missense variant	-	NC_000005.10:g.135029054T>A	TOPMed
PITX1	P78337	p.Thr224Asn	rs943518762	missense variant	-	NC_000005.10:g.135029053G>T	TOPMed,gnomAD
PITX1	P78337	p.Met225Val	rs774492516	missense variant	-	NC_000005.10:g.135029051T>C	ExAC,gnomAD
PITX1	P78337	p.Pro226Ser	rs764101680	missense variant	-	NC_000005.10:g.135029048G>A	ExAC,gnomAD
PITX1	P78337	p.Pro226Gln	rs763006479	missense variant	-	NC_000005.10:g.135029047G>T	ExAC,gnomAD
PITX1	P78337	p.Met229Thr	rs1240871076	missense variant	-	NC_000005.10:g.135029038A>G	TOPMed,gnomAD
PITX1	P78337	p.Met229Ile	rs775755663	missense variant	-	NC_000005.10:g.135029037C>T	ExAC,gnomAD
PITX1	P78337	p.Met229Leu	rs1453741800	missense variant	-	NC_000005.10:g.135029039T>A	TOPMed
PITX1	P78337	p.Pro231Thr	rs769968771	missense variant	-	NC_000005.10:g.135029033G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly232Ser	rs746291345	missense variant	-	NC_000005.10:g.135029030C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ala233Thr	COSM1060965	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029027C>T	NCI-TCGA Cosmic
PITX1	P78337	p.Val234Gly	rs1309164541	missense variant	-	NC_000005.10:g.135029023A>C	gnomAD
PITX1	P78337	p.Val234Ala	rs1309164541	missense variant	-	NC_000005.10:g.135029023A>G	gnomAD
PITX1	P78337	p.Val234Met	rs776808560	missense variant	-	NC_000005.10:g.135029024C>T	ExAC,gnomAD
PITX1	P78337	p.Pro235Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135029021G>A	NCI-TCGA
PITX1	P78337	p.Pro238Ser	rs1448173070	missense variant	-	NC_000005.10:g.135029012G>A	gnomAD
PITX1	P78337	p.Ser240Leu	rs1379498261	missense variant	-	NC_000005.10:g.135029005G>A	gnomAD
PITX1	P78337	p.Asn246Ser	rs1369105726	missense variant	-	NC_000005.10:g.135028987T>C	TOPMed
PITX1	P78337	p.Asn247Ser	rs747410643	missense variant	-	NC_000005.10:g.135028984T>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Leu248Val	rs778584550	missense variant	-	NC_000005.10:g.135028982G>C	ExAC,TOPMed
PITX1	P78337	p.Thr249Pro	rs1167236058	missense variant	-	NC_000005.10:g.135028979T>G	gnomAD
PITX1	P78337	p.Thr249Ala	COSM3850219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028979T>C	NCI-TCGA Cosmic
PITX1	P78337	p.Gly250Asp	rs1236802730	missense variant	-	NC_000005.10:g.135028975C>T	TOPMed
PITX1	P78337	p.Gly250Ser	rs748803285	missense variant	-	NC_000005.10:g.135028976C>T	ExAC,gnomAD
PITX1	P78337	p.Asn254Ser	rs1239721690	missense variant	-	NC_000005.10:g.135028963T>C	gnomAD
PITX1	P78337	p.Ser255Leu	COSM1060963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028960G>A	NCI-TCGA Cosmic
PITX1	P78337	p.Ala256Val	rs1236988076	missense variant	-	NC_000005.10:g.135028957G>A	TOPMed,gnomAD
PITX1	P78337	p.Ala256Thr	rs372494047	missense variant	-	NC_000005.10:g.135028958C>T	ESP
PITX1	P78337	p.Ala256Ter	RCV000030814	frameshift	Talipes equinovarus (CCF)	NC_000005.10:g.135028929_135028963del	ClinVar
PITX1	P78337	p.Met257Lys	rs767150308	missense variant	-	NC_000005.10:g.135028954A>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Met257Arg	rs767150308	missense variant	-	NC_000005.10:g.135028954A>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Met257Thr	rs767150308	missense variant	-	NC_000005.10:g.135028954A>G	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ser258Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135028951G>A	NCI-TCGA
PITX1	P78337	p.Pro259Leu	rs1458849350	missense variant	-	NC_000005.10:g.135028948G>A	TOPMed
PITX1	P78337	p.Gly260Ser	rs568284959	missense variant	-	NC_000005.10:g.135028946C>T	1000Genomes,TOPMed,gnomAD
PITX1	P78337	p.Gly260Asp	rs1273502568	missense variant	-	NC_000005.10:g.135028945C>T	gnomAD
PITX1	P78337	p.Pro263Leu	rs764013997	missense variant	-	NC_000005.10:g.135028936G>A	ExAC,TOPMed
PITX1	P78337	p.Pro263Arg	rs764013997	missense variant	-	NC_000005.10:g.135028936G>C	ExAC,TOPMed
PITX1	P78337	p.Gly265Asp	rs1299866342	missense variant	-	NC_000005.10:g.135028930C>T	gnomAD
PITX1	P78337	p.Gly265Arg	rs141612135	missense variant	-	NC_000005.10:g.135028931C>G	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly265Ser	rs141612135	missense variant	-	NC_000005.10:g.135028931C>T	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Thr266Ala	rs1386538357	missense variant	-	NC_000005.10:g.135028928T>C	gnomAD
PITX1	P78337	p.Ser269Leu	rs1317444283	missense variant	-	NC_000005.10:g.135028918G>A	gnomAD
PITX1	P78337	p.Ser269Trp	COSM462078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028918G>C	NCI-TCGA Cosmic
PITX1	P78337	p.Ser272Gly	rs528345689	missense variant	-	NC_000005.10:g.135028910T>C	1000Genomes,ExAC,gnomAD
PITX1	P78337	p.Val273Phe	rs747391523	missense variant	-	NC_000005.10:g.135028907C>A	ExAC,gnomAD
PITX1	P78337	p.Val273Ile	COSM72185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028907C>T	NCI-TCGA Cosmic
PITX1	P78337	p.Tyr274Cys	rs773927273	missense variant	-	NC_000005.10:g.135028903T>C	ExAC,gnomAD
PITX1	P78337	p.Arg275Pro	rs1013032115	missense variant	-	NC_000005.10:g.135028900C>G	TOPMed,gnomAD
PITX1	P78337	p.Asp276Asn	rs1432380066	missense variant	-	NC_000005.10:g.135028898C>T	gnomAD
PITX1	P78337	p.Asn279Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.135028887G>C	NCI-TCGA
PITX1	P78337	p.Ser284Arg	rs1487114718	missense variant	-	NC_000005.10:g.135028874T>G	gnomAD
PITX1	P78337	p.Arg286Gln	rs769519435	missense variant	-	NC_000005.10:g.135028867C>T	ExAC,gnomAD
PITX1	P78337	p.Leu287Arg	rs780883053	missense variant	-	NC_000005.10:g.135028864A>C	ExAC,gnomAD
PITX1	P78337	p.Lys288Glu	rs1298472078	missense variant	-	NC_000005.10:g.135028862T>C	TOPMed
PITX1	P78337	p.Ser289Ala	rs902010938	missense variant	-	NC_000005.10:g.135028859A>C	TOPMed
PITX1	P78337	p.Gln291Ter	rs1313082228	stop gained	-	NC_000005.10:g.135028853G>A	gnomAD
PITX1	P78337	p.Gln291Pro	rs1296477476	missense variant	-	NC_000005.10:g.135028852T>G	gnomAD
PITX1	P78337	p.Ser293Leu	rs1303886235	missense variant	-	NC_000005.10:g.135028846G>A	gnomAD
PITX1	P78337	p.Ser293Ter	rs1303886235	stop gained	-	NC_000005.10:g.135028846G>T	gnomAD
PITX1	P78337	p.Ser294Leu	rs758279008	missense variant	-	NC_000005.10:g.135028843G>A	ExAC,gnomAD
PITX1	P78337	p.Ser294Ter	rs758279008	stop gained	-	NC_000005.10:g.135028843G>T	ExAC,gnomAD
PITX1	P78337	p.Phe295Leu	rs765166800	missense variant	-	NC_000005.10:g.135028841A>G	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly296Val	rs1300941744	missense variant	-	NC_000005.10:g.135028837C>A	gnomAD
PITX1	P78337	p.Tyr297Asn	rs1359475063	missense variant	-	NC_000005.10:g.135028835A>T	gnomAD
PITX1	P78337	p.Gly298Asp	rs1319547128	missense variant	-	NC_000005.10:g.135028831C>T	TOPMed
PITX1	P78337	p.Gly299Ser	rs759820239	missense variant	-	NC_000005.10:g.135028829C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly299Ala	rs479632	missense variant	-	NC_000005.10:g.135028828C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly299Ala	RCV000327204	missense variant	-	NC_000005.10:g.135028828C>G	ClinVar
PITX1	P78337	p.Gln301Arg	rs1258847740	missense variant	-	NC_000005.10:g.135028822T>C	TOPMed
PITX1	P78337	p.Gln301Ter	rs367566700	stop gained	-	NC_000005.10:g.135028823G>A	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly302Asp	COSM3608611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028819C>T	NCI-TCGA Cosmic
PITX1	P78337	p.Gly302Ser	rs1165114591	missense variant	-	NC_000005.10:g.135028820C>T	gnomAD
PITX1	P78337	p.Pro303Ala	rs773690157	missense variant	-	NC_000005.10:g.135028817G>C	ExAC,gnomAD
PITX1	P78337	p.Ala304Asp	rs1197107893	missense variant	-	NC_000005.10:g.135028813G>T	TOPMed,gnomAD
PITX1	P78337	p.Gly306Ser	rs1279071053	missense variant	-	NC_000005.10:g.135028808C>T	TOPMed,gnomAD
PITX1	P78337	p.Leu307Phe	rs1220699278	missense variant	-	NC_000005.10:g.135028805G>A	gnomAD
PITX1	P78337	p.Asn308Ser	rs1312123736	missense variant	-	NC_000005.10:g.135028801T>C	TOPMed,gnomAD
PITX1	P78337	p.Asn308Lys	rs745378528	missense variant	-	NC_000005.10:g.135028800G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ala309Glu	rs535075716	missense variant	-	NC_000005.10:g.135028798G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ala309Thr	rs140746945	missense variant	-	NC_000005.10:g.135028799C>T	ESP,ExAC,gnomAD
PITX1	P78337	p.Ala309Gly	rs535075716	missense variant	-	NC_000005.10:g.135028798G>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gln311Ter	rs752576335	stop gained	-	NC_000005.10:g.135028793G>A	ExAC,gnomAD
PITX1	P78337	p.Ser314Arg	rs374745950	missense variant	-	NC_000005.10:g.135028782G>C	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ter315Cys	rs766560623	stop lost	-	NC_000005.10:g.135028779T>G	ExAC,gnomAD
PITX1	P78337	p.Asp2Asn	rs1225728215	missense variant	-	NC_000005.10:g.135033878C>T	TOPMed
PITX1	P78337	p.Ala3Thr	rs574730283	missense variant	-	NC_000005.10:g.135033875C>T	1000Genomes,ExAC,gnomAD
PITX1	P78337	p.Ala3Val	rs748627311	missense variant	-	NC_000005.10:g.135033874G>A	ExAC,gnomAD
PITX1	P78337	p.Ala3Ser	rs574730283	missense variant	-	NC_000005.10:g.135033875C>A	1000Genomes,ExAC,gnomAD
PITX1	P78337	p.Gly6Arg	rs553290196	missense variant	-	NC_000005.10:g.135033866C>T	1000Genomes,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly6Arg	rs553290196	missense variant	-	NC_000005.10:g.135033866C>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly6Ala	rs1256022922	missense variant	-	NC_000005.10:g.135033865C>G	TOPMed
PITX1	P78337	p.Gly7Asp	rs1300560831	missense variant	-	NC_000005.10:g.135033862C>T	TOPMed,gnomAD
PITX1	P78337	p.Gly7Val	rs1300560831	missense variant	-	NC_000005.10:g.135033862C>A	TOPMed,gnomAD
PITX1	P78337	p.Gly7Cys	rs1441167153	missense variant	-	NC_000005.10:g.135033863C>A	TOPMed
PITX1	P78337	p.Ser9Asn	rs780936376	missense variant	-	NC_000005.10:g.135033856C>T	ExAC,gnomAD
PITX1	P78337	p.Glu11Gly	rs942423669	missense variant	-	NC_000005.10:g.135033850T>C	TOPMed,gnomAD
PITX1	P78337	p.Arg12Gly	rs1166881422	missense variant	-	NC_000005.10:g.135033848G>C	TOPMed
PITX1	P78337	p.Leu13Val	rs535018917	missense variant	-	NC_000005.10:g.135033845G>C	1000Genomes,TOPMed,gnomAD
PITX1	P78337	p.Pro14Ala	rs564413063	missense variant	-	NC_000005.10:g.135033842G>C	TOPMed,gnomAD
PITX1	P78337	p.Gly16Trp	rs1454748987	missense variant	-	NC_000005.10:g.135033836C>A	gnomAD
PITX1	P78337	p.Pro19Arg	rs1399864891	missense variant	-	NC_000005.10:g.135033826G>C	TOPMed
PITX1	P78337	p.Pro21Ser	rs751390239	missense variant	-	NC_000005.10:g.135033821G>A	ExAC,gnomAD
PITX1	P78337	p.Pro23Leu	rs763753483	missense variant	-	NC_000005.10:g.135033814G>A	ExAC,gnomAD
PITX1	P78337	p.His25Pro	rs758332384	missense variant	-	NC_000005.10:g.135033808T>G	ExAC,gnomAD
PITX1	P78337	p.His25Tyr	rs1277707678	missense variant	-	NC_000005.10:g.135033809G>A	gnomAD
PITX1	P78337	p.Gly28Trp	rs1312444477	missense variant	-	NC_000005.10:g.135033800C>A	TOPMed
PITX1	P78337	p.Ala30Thr	rs765150075	missense variant	-	NC_000005.10:g.135033794C>T	ExAC,gnomAD
PITX1	P78337	p.Phe31Leu	rs1326372885	missense variant	-	NC_000005.10:g.135033789G>T	gnomAD
PITX1	P78337	p.Ala34Thr	rs1354010951	missense variant	-	NC_000005.10:g.135033782C>T	gnomAD
PITX1	P78337	p.Ala34Asp	rs1312487179	missense variant	-	NC_000005.10:g.135033781G>T	gnomAD
PITX1	P78337	p.Arg35Trp	rs776544846	missense variant	-	NC_000005.10:g.135033779G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg35Gly	rs776544846	missense variant	-	NC_000005.10:g.135033779G>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg35Pro	rs1377286597	missense variant	-	NC_000005.10:g.135033778C>G	TOPMed,gnomAD
PITX1	P78337	p.Arg35Gln	rs1377286597	missense variant	-	NC_000005.10:g.135033778C>T	TOPMed,gnomAD
PITX1	P78337	p.Ala37Thr	rs1166246760	missense variant	-	NC_000005.10:g.135033773C>T	TOPMed,gnomAD
PITX1	P78337	p.Asp38Glu	rs1372460130	missense variant	-	NC_000005.10:g.135033768G>T	gnomAD
PITX1	P78337	p.Pro39Ala	rs766675727	missense variant	-	NC_000005.10:g.135033767G>C	ExAC,gnomAD
PITX1	P78337	p.Arg40Leu	rs772499567	missense variant	-	NC_000005.10:g.135033763C>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg40His	rs772499567	missense variant	-	NC_000005.10:g.135033763C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg40Cys	rs760760729	missense variant	-	NC_000005.10:g.135033764G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg40Gly	rs760760729	missense variant	-	NC_000005.10:g.135033764G>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Glu41Lys	rs1485796234	missense variant	-	NC_000005.10:g.135033761C>T	gnomAD
PITX1	P78337	p.Pro42Leu	rs1375721728	missense variant	-	NC_000005.10:g.135033757G>A	TOPMed
PITX1	P78337	p.Glu44Asp	rs1338227833	missense variant	-	NC_000005.10:g.135033750C>A	gnomAD
PITX1	P78337	p.Asn45Lys	rs989679028	missense variant	-	NC_000005.10:g.135033747G>C	TOPMed,gnomAD
PITX1	P78337	p.Ser46Pro	rs1230333301	missense variant	-	NC_000005.10:g.135033746A>G	gnomAD
PITX1	P78337	p.Ala47Ser	rs780516973	missense variant	-	NC_000005.10:g.135033743C>A	ExAC,gnomAD
PITX1	P78337	p.Ser48Thr	rs1357631864	missense variant	-	NC_000005.10:g.135033739C>G	gnomAD
PITX1	P78337	p.Ser48Gly	rs1415568856	missense variant	-	NC_000005.10:g.135033740T>C	gnomAD
PITX1	P78337	p.Ser50Pro	rs746572751	missense variant	-	NC_000005.10:g.135033734A>G	ExAC,gnomAD
PITX1	P78337	p.Ser50Thr	rs746572751	missense variant	-	NC_000005.10:g.135033734A>T	ExAC,gnomAD
PITX1	P78337	p.Asp52Glu	rs200290396	missense variant	-	NC_000005.10:g.135033726G>C	TOPMed,gnomAD
PITX1	P78337	p.Asp52Asn	rs1390857984	missense variant	-	NC_000005.10:g.135033728C>T	gnomAD
PITX1	P78337	p.Thr53Met	rs777634577	missense variant	-	NC_000005.10:g.135033724G>A	ExAC,gnomAD
PITX1	P78337	p.Glu54Asp	rs1294797416	missense variant	-	NC_000005.10:g.135033720C>G	TOPMed
PITX1	P78337	p.Leu55Arg	rs1367740243	missense variant	-	NC_000005.10:g.135033718A>C	TOPMed
PITX1	P78337	p.Pro56Arg	rs1385869878	missense variant	-	NC_000005.10:g.135033715G>C	TOPMed
PITX1	P78337	p.Arg60Cys	rs779923896	missense variant	-	NC_000005.10:g.135031500G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg60Ser	rs779923896	missense variant	-	NC_000005.10:g.135031500G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg60His	rs1192736152	missense variant	-	NC_000005.10:g.135031499C>T	TOPMed,gnomAD
PITX1	P78337	p.Gly61Ser	rs756056039	missense variant	-	NC_000005.10:g.135031497C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly62Trp	rs1056762111	missense variant	-	NC_000005.10:g.135031494C>A	TOPMed
PITX1	P78337	p.Pro67Leu	rs1301233293	missense variant	-	NC_000005.10:g.135031478G>A	gnomAD
PITX1	P78337	p.Glu68Lys	rs757554141	missense variant	-	NC_000005.10:g.135031476C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly71Asp	rs775734536	missense variant	-	NC_000005.10:g.135031466C>T	TOPMed,gnomAD
PITX1	P78337	p.Ala72Val	rs139844695	missense variant	-	NC_000005.10:g.135031463G>A	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly73Glu	rs1365985651	missense variant	-	NC_000005.10:g.135031460C>T	gnomAD
PITX1	P78337	p.Gly76Ser	rs758752422	missense variant	-	NC_000005.10:g.135031452C>T	ExAC,gnomAD
PITX1	P78337	p.Cys77Trp	rs753078578	missense variant	-	NC_000005.10:g.135031447G>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly78Ser	rs765717973	missense variant	-	NC_000005.10:g.135031446C>T	ExAC,gnomAD
PITX1	P78337	p.Gly79Cys	rs772743808	missense variant	-	NC_000005.10:g.135031443C>A	ExAC,gnomAD
PITX1	P78337	p.Ala80Thr	rs1378101551	missense variant	-	NC_000005.10:g.135031440C>T	gnomAD
PITX1	P78337	p.Asp82Asn	rs766948741	missense variant	-	NC_000005.10:g.135031434C>T	ExAC,gnomAD
PITX1	P78337	p.Ala84Asp	RCV000306490	missense variant	-	NC_000005.10:g.135031427G>T	ClinVar
PITX1	P78337	p.Ala84Asp	rs201133610	missense variant	-	NC_000005.10:g.135031427G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Lys86Gln	rs1260855740	missense variant	-	NC_000005.10:g.135031422T>G	gnomAD
PITX1	P78337	p.Lys86Thr	rs1246339922	missense variant	-	NC_000005.10:g.135031421T>G	TOPMed
PITX1	P78337	p.Lys88Gln	RCV000319849	missense variant	-	NC_000005.10:g.135031416T>G	ClinVar
PITX1	P78337	p.Lys88Gln	rs200888898	missense variant	-	NC_000005.10:g.135031416T>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gln89Glu	rs1013698423	missense variant	-	NC_000005.10:g.135031413G>C	TOPMed
PITX1	P78337	p.Arg91Gln	rs1254713180	missense variant	-	NC_000005.10:g.135031406C>T	TOPMed,gnomAD
PITX1	P78337	p.His95Gln	rs1477746070	missense variant	-	NC_000005.10:g.135031393G>T	TOPMed,gnomAD
PITX1	P78337	p.Thr97Ala	rs1375931542	missense variant	-	NC_000005.10:g.135031389T>C	gnomAD
PITX1	P78337	p.Thr97Lys	rs749085613	missense variant	-	NC_000005.10:g.135031388G>T	ExAC,gnomAD
PITX1	P78337	p.Ala106Thr	rs1353831820	missense variant	-	NC_000005.10:g.135031362C>T	gnomAD
PITX1	P78337	p.Thr107Met	rs1312538588	missense variant	-	NC_000005.10:g.135031358G>A	gnomAD
PITX1	P78337	p.Arg112Gly	rs1404510232	missense variant	-	NC_000005.10:g.135031344G>C	gnomAD
PITX1	P78337	p.Met116Ile	rs1422587604	missense variant	-	NC_000005.10:g.135031330C>A	gnomAD
PITX1	P78337	p.Met116Ile	rs1422587604	missense variant	-	NC_000005.10:g.135031330C>T	gnomAD
PITX1	P78337	p.Ser117Gly	rs1262985450	missense variant	-	NC_000005.10:g.135031329T>C	gnomAD
PITX1	P78337	p.Met118Val	rs571940665	missense variant	-	NC_000005.10:g.135031326T>C	1000Genomes,ExAC,gnomAD
PITX1	P78337	p.Arg119Thr	rs1397161276	missense variant	-	NC_000005.10:g.135031322C>G	TOPMed
PITX1	P78337	p.Glu120Asp	rs550233065	missense variant	-	NC_000005.10:g.135031318C>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Val124Leu	rs753029316	missense variant	-	NC_000005.10:g.135031308C>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Val124Met	rs753029316	missense variant	-	NC_000005.10:g.135031308C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Val124Leu	rs753029316	missense variant	-	NC_000005.10:g.135031308C>G	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Val124Ala	rs1340197341	missense variant	-	NC_000005.10:g.135031307A>G	TOPMed
PITX1	P78337	p.Trp125Leu	rs1257740467	missense variant	-	NC_000005.10:g.135031304C>A	gnomAD
PITX1	P78337	p.Asn127Lys	rs1243111381	missense variant	-	NC_000005.10:g.135031297G>T	TOPMed
PITX1	P78337	p.Asn127Asp	rs1480604875	missense variant	-	NC_000005.10:g.135031299T>C	gnomAD
PITX1	P78337	p.Glu130Lys	rs121909109	missense variant	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)	NC_000005.10:g.135031290C>T	UniProt,dbSNP
PITX1	P78337	p.Glu130Lys	VAR_058113	missense variant	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)	NC_000005.10:g.135031290C>T	UniProt
PITX1	P78337	p.Glu130Lys	rs121909109	missense variant	-	NC_000005.10:g.135031290C>T	-
PITX1	P78337	p.Glu130Lys	RCV000007934	missense variant	Talipes equinovarus (CCF)	NC_000005.10:g.135031290C>T	ClinVar
PITX1	P78337	p.Pro131Ser	rs1200875885	missense variant	-	NC_000005.10:g.135031287G>A	TOPMed,gnomAD
PITX1	P78337	p.Pro131Leu	rs754287927	missense variant	-	NC_000005.10:g.135031286G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg132Cys	rs761379519	missense variant	-	NC_000005.10:g.135031284G>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Arg132His	rs1342270668	missense variant	-	NC_000005.10:g.135031283C>T	TOPMed,gnomAD
PITX1	P78337	p.Arg134Gln	rs987364689	missense variant	-	NC_000005.10:g.135031277C>T	TOPMed
PITX1	P78337	p.Val135Ile	rs1476602015	missense variant	-	NC_000005.10:g.135029321C>T	gnomAD
PITX1	P78337	p.Val135Ala	rs1345681080	missense variant	-	NC_000005.10:g.135029320A>G	gnomAD
PITX1	P78337	p.Asn139Thr	RCV000177164	missense variant	-	NC_000005.10:g.135029308T>G	ClinVar
PITX1	P78337	p.Asn139Thr	rs794727495	missense variant	-	NC_000005.10:g.135029308T>G	-
PITX1	P78337	p.Arg145His	rs1399013260	missense variant	-	NC_000005.10:g.135029290C>T	gnomAD
PITX1	P78337	p.Arg147Pro	rs1360539859	missense variant	-	NC_000005.10:g.135029284C>G	TOPMed,gnomAD
PITX1	P78337	p.Arg147His	rs1360539859	missense variant	-	NC_000005.10:g.135029284C>T	TOPMed,gnomAD
PITX1	P78337	p.Arg149His	rs1433362036	missense variant	-	NC_000005.10:g.135029278C>T	TOPMed,gnomAD
PITX1	P78337	p.Arg149Cys	rs1347444403	missense variant	-	NC_000005.10:g.135029279G>A	TOPMed
PITX1	P78337	p.Cys156Trp	rs1279414350	missense variant	-	NC_000005.10:g.135029256G>C	TOPMed
PITX1	P78337	p.Gly158Ser	rs1173728974	missense variant	-	NC_000005.10:g.135029252C>T	gnomAD
PITX1	P78337	p.Gly159Val	rs1218709956	missense variant	-	NC_000005.10:g.135029248C>A	TOPMed
PITX1	P78337	p.Gly159Ser	rs752113290	missense variant	-	NC_000005.10:g.135029249C>T	ExAC,gnomAD
PITX1	P78337	p.Tyr160Cys	rs765028752	missense variant	-	NC_000005.10:g.135029245T>C	ExAC,gnomAD
PITX1	P78337	p.Pro162Gln	rs1265370549	missense variant	-	NC_000005.10:g.135029239G>T	TOPMed,gnomAD
PITX1	P78337	p.Gln163His	rs1277812715	missense variant	-	NC_000005.10:g.135029235C>G	TOPMed,gnomAD
PITX1	P78337	p.Gln163Pro	rs1441963613	missense variant	-	NC_000005.10:g.135029236T>G	gnomAD
PITX1	P78337	p.Val168Ala	rs1219808304	missense variant	-	NC_000005.10:g.135029221A>G	gnomAD
PITX1	P78337	p.Tyr171Ter	RCV000760809	nonsense	-	NC_000005.10:g.135029211G>C	ClinVar
PITX1	P78337	p.Glu172Lys	rs766215212	missense variant	-	NC_000005.10:g.135029210C>T	ExAC,gnomAD
PITX1	P78337	p.Val174Met	rs1217579831	missense variant	-	NC_000005.10:g.135029204C>T	gnomAD
PITX1	P78337	p.Tyr175His	rs760706230	missense variant	-	NC_000005.10:g.135029201A>G	ExAC,gnomAD
PITX1	P78337	p.Ala176Thr	rs773259804	missense variant	-	NC_000005.10:g.135029198C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Trp184Arg	rs933528781	missense variant	-	NC_000005.10:g.135029174A>G	TOPMed,gnomAD
PITX1	P78337	p.Trp184Ser	rs1212664689	missense variant	-	NC_000005.10:g.135029173C>G	gnomAD
PITX1	P78337	p.Ala186Thr	rs774275193	missense variant	-	NC_000005.10:g.135029168C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ala186Ser	rs774275193	missense variant	-	NC_000005.10:g.135029168C>A	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Lys187Glu	rs1417744334	missense variant	-	NC_000005.10:g.135029165T>C	gnomAD
PITX1	P78337	p.Lys187Arg	rs1270507178	missense variant	-	NC_000005.10:g.135029164T>C	gnomAD
PITX1	P78337	p.Ser188Gly	rs768895777	missense variant	-	NC_000005.10:g.135029162T>C	ExAC,gnomAD
PITX1	P78337	p.Leu189Pro	rs749444294	missense variant	-	NC_000005.10:g.135029158A>G	ExAC,gnomAD
PITX1	P78337	p.Ala192Val	rs201656428	missense variant	-	NC_000005.10:g.135029149G>A	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Pro193Gln	rs1472506383	missense variant	-	NC_000005.10:g.135029146G>T	gnomAD
PITX1	P78337	p.Leu194Val	rs770201995	missense variant	-	NC_000005.10:g.135029144G>C	ExAC,gnomAD
PITX1	P78337	p.Lys197Asn	rs1470337405	missense variant	-	NC_000005.10:g.135029133C>G	gnomAD
PITX1	P78337	p.Phe201Ser	rs1399567797	missense variant	-	NC_000005.10:g.135029122A>G	gnomAD
PITX1	P78337	p.Phe201Leu	rs370544754	missense variant	-	NC_000005.10:g.135029123A>G	ESP,ExAC,TOPMed
PITX1	P78337	p.Phe202Leu	rs886765208	missense variant	-	NC_000005.10:g.135029120A>G	gnomAD
PITX1	P78337	p.Met205Arg	rs766120302	missense variant	-	NC_000005.10:g.135029110A>C	ExAC,gnomAD
PITX1	P78337	p.Met205Leu	rs149498254	missense variant	-	NC_000005.10:g.135029111T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Met205Val	rs149498254	missense variant	-	NC_000005.10:g.135029111T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Pro207Gln	rs147021244	missense variant	-	NC_000005.10:g.135029104G>T	1000Genomes,gnomAD
PITX1	P78337	p.Pro207Leu	rs147021244	missense variant	-	NC_000005.10:g.135029104G>A	1000Genomes,gnomAD
PITX1	P78337	p.Pro207Ala	rs1450755660	missense variant	-	NC_000005.10:g.135029105G>C	gnomAD
PITX1	P78337	p.Ser209Pro	rs1349932321	missense variant	-	NC_000005.10:g.135029099A>G	TOPMed
PITX1	P78337	p.Gln211Arg	rs1466455949	missense variant	-	NC_000005.10:g.135029092T>C	gnomAD
PITX1	P78337	p.Ser212Thr	rs756005087	missense variant	-	NC_000005.10:g.135029090A>T	ExAC
PITX1	P78337	p.Met213Val	rs138042194	missense variant	-	NC_000005.10:g.135029087T>C	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Met213Lys	rs373267473	missense variant	-	NC_000005.10:g.135029086A>T	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ala216Ser	rs373526031	missense variant	-	NC_000005.10:g.135029078C>A	ESP,TOPMed,gnomAD
PITX1	P78337	p.Thr224Ser	rs1452998414	missense variant	-	NC_000005.10:g.135029054T>A	TOPMed
PITX1	P78337	p.Thr224Asn	rs943518762	missense variant	-	NC_000005.10:g.135029053G>T	TOPMed,gnomAD
PITX1	P78337	p.Met225Val	rs774492516	missense variant	-	NC_000005.10:g.135029051T>C	ExAC,gnomAD
PITX1	P78337	p.Pro226Gln	rs763006479	missense variant	-	NC_000005.10:g.135029047G>T	ExAC,gnomAD
PITX1	P78337	p.Pro226Ser	rs764101680	missense variant	-	NC_000005.10:g.135029048G>A	ExAC,gnomAD
PITX1	P78337	p.Met229Ile	rs775755663	missense variant	-	NC_000005.10:g.135029037C>T	ExAC,gnomAD
PITX1	P78337	p.Met229Thr	rs1240871076	missense variant	-	NC_000005.10:g.135029038A>G	TOPMed,gnomAD
PITX1	P78337	p.Met229Leu	rs1453741800	missense variant	-	NC_000005.10:g.135029039T>A	TOPMed
PITX1	P78337	p.Pro231Thr	rs769968771	missense variant	-	NC_000005.10:g.135029033G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly232Ser	rs746291345	missense variant	-	NC_000005.10:g.135029030C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Val234Ala	rs1309164541	missense variant	-	NC_000005.10:g.135029023A>G	gnomAD
PITX1	P78337	p.Val234Gly	rs1309164541	missense variant	-	NC_000005.10:g.135029023A>C	gnomAD
PITX1	P78337	p.Val234Met	rs776808560	missense variant	-	NC_000005.10:g.135029024C>T	ExAC,gnomAD
PITX1	P78337	p.Pro238Ser	rs1448173070	missense variant	-	NC_000005.10:g.135029012G>A	gnomAD
PITX1	P78337	p.Ser240Leu	rs1379498261	missense variant	-	NC_000005.10:g.135029005G>A	gnomAD
PITX1	P78337	p.Asn246Ser	rs1369105726	missense variant	-	NC_000005.10:g.135028987T>C	TOPMed
PITX1	P78337	p.Asn247Ser	rs747410643	missense variant	-	NC_000005.10:g.135028984T>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Leu248Val	rs778584550	missense variant	-	NC_000005.10:g.135028982G>C	ExAC,TOPMed
PITX1	P78337	p.Thr249Pro	rs1167236058	missense variant	-	NC_000005.10:g.135028979T>G	gnomAD
PITX1	P78337	p.Gly250Ser	rs748803285	missense variant	-	NC_000005.10:g.135028976C>T	ExAC,gnomAD
PITX1	P78337	p.Gly250Asp	rs1236802730	missense variant	-	NC_000005.10:g.135028975C>T	TOPMed
PITX1	P78337	p.Asn254Ser	rs1239721690	missense variant	-	NC_000005.10:g.135028963T>C	gnomAD
PITX1	P78337	p.Ala256Val	rs1236988076	missense variant	-	NC_000005.10:g.135028957G>A	TOPMed,gnomAD
PITX1	P78337	p.Ala256Thr	rs372494047	missense variant	-	NC_000005.10:g.135028958C>T	ESP
PITX1	P78337	p.Ala256Ter	RCV000030814	frameshift	Talipes equinovarus (CCF)	NC_000005.10:g.135028929_135028963del	ClinVar
PITX1	P78337	p.Met257Lys	rs767150308	missense variant	-	NC_000005.10:g.135028954A>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Met257Thr	rs767150308	missense variant	-	NC_000005.10:g.135028954A>G	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Met257Arg	rs767150308	missense variant	-	NC_000005.10:g.135028954A>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Pro259Leu	rs1458849350	missense variant	-	NC_000005.10:g.135028948G>A	TOPMed
PITX1	P78337	p.Gly260Ser	rs568284959	missense variant	-	NC_000005.10:g.135028946C>T	1000Genomes,TOPMed,gnomAD
PITX1	P78337	p.Gly260Asp	rs1273502568	missense variant	-	NC_000005.10:g.135028945C>T	gnomAD
PITX1	P78337	p.Pro263Leu	rs764013997	missense variant	-	NC_000005.10:g.135028936G>A	ExAC,TOPMed
PITX1	P78337	p.Pro263Arg	rs764013997	missense variant	-	NC_000005.10:g.135028936G>C	ExAC,TOPMed
PITX1	P78337	p.Gly265Asp	rs1299866342	missense variant	-	NC_000005.10:g.135028930C>T	gnomAD
PITX1	P78337	p.Gly265Arg	rs141612135	missense variant	-	NC_000005.10:g.135028931C>G	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly265Ser	rs141612135	missense variant	-	NC_000005.10:g.135028931C>T	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Thr266Ala	rs1386538357	missense variant	-	NC_000005.10:g.135028928T>C	gnomAD
PITX1	P78337	p.Ser269Leu	rs1317444283	missense variant	-	NC_000005.10:g.135028918G>A	gnomAD
PITX1	P78337	p.Ser272Gly	rs528345689	missense variant	-	NC_000005.10:g.135028910T>C	1000Genomes,ExAC,gnomAD
PITX1	P78337	p.Val273Phe	rs747391523	missense variant	-	NC_000005.10:g.135028907C>A	ExAC,gnomAD
PITX1	P78337	p.Tyr274Cys	rs773927273	missense variant	-	NC_000005.10:g.135028903T>C	ExAC,gnomAD
PITX1	P78337	p.Arg275Pro	rs1013032115	missense variant	-	NC_000005.10:g.135028900C>G	TOPMed,gnomAD
PITX1	P78337	p.Asp276Asn	rs1432380066	missense variant	-	NC_000005.10:g.135028898C>T	gnomAD
PITX1	P78337	p.Ser284Arg	rs1487114718	missense variant	-	NC_000005.10:g.135028874T>G	gnomAD
PITX1	P78337	p.Arg286Gln	rs769519435	missense variant	-	NC_000005.10:g.135028867C>T	ExAC,gnomAD
PITX1	P78337	p.Leu287Arg	rs780883053	missense variant	-	NC_000005.10:g.135028864A>C	ExAC,gnomAD
PITX1	P78337	p.Lys288Glu	rs1298472078	missense variant	-	NC_000005.10:g.135028862T>C	TOPMed
PITX1	P78337	p.Ser289Ala	rs902010938	missense variant	-	NC_000005.10:g.135028859A>C	TOPMed
PITX1	P78337	p.Gln291Ter	rs1313082228	stop gained	-	NC_000005.10:g.135028853G>A	gnomAD
PITX1	P78337	p.Gln291Pro	rs1296477476	missense variant	-	NC_000005.10:g.135028852T>G	gnomAD
PITX1	P78337	p.Ser293Leu	rs1303886235	missense variant	-	NC_000005.10:g.135028846G>A	gnomAD
PITX1	P78337	p.Ser293Ter	rs1303886235	stop gained	-	NC_000005.10:g.135028846G>T	gnomAD
PITX1	P78337	p.Ser294Leu	rs758279008	missense variant	-	NC_000005.10:g.135028843G>A	ExAC,gnomAD
PITX1	P78337	p.Ser294Ter	rs758279008	stop gained	-	NC_000005.10:g.135028843G>T	ExAC,gnomAD
PITX1	P78337	p.Phe295Leu	rs765166800	missense variant	-	NC_000005.10:g.135028841A>G	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly296Val	rs1300941744	missense variant	-	NC_000005.10:g.135028837C>A	gnomAD
PITX1	P78337	p.Tyr297Asn	rs1359475063	missense variant	-	NC_000005.10:g.135028835A>T	gnomAD
PITX1	P78337	p.Gly298Asp	rs1319547128	missense variant	-	NC_000005.10:g.135028831C>T	TOPMed
PITX1	P78337	p.Gly299Ala	rs479632	missense variant	-	NC_000005.10:g.135028828C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly299Ser	rs759820239	missense variant	-	NC_000005.10:g.135028829C>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly299Ala	RCV000327204	missense variant	-	NC_000005.10:g.135028828C>G	ClinVar
PITX1	P78337	p.Gln301Arg	rs1258847740	missense variant	-	NC_000005.10:g.135028822T>C	TOPMed
PITX1	P78337	p.Gln301Ter	rs367566700	stop gained	-	NC_000005.10:g.135028823G>A	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gly302Ser	rs1165114591	missense variant	-	NC_000005.10:g.135028820C>T	gnomAD
PITX1	P78337	p.Pro303Ala	rs773690157	missense variant	-	NC_000005.10:g.135028817G>C	ExAC,gnomAD
PITX1	P78337	p.Ala304Asp	rs1197107893	missense variant	-	NC_000005.10:g.135028813G>T	TOPMed,gnomAD
PITX1	P78337	p.Gly306Ser	rs1279071053	missense variant	-	NC_000005.10:g.135028808C>T	TOPMed,gnomAD
PITX1	P78337	p.Leu307Phe	rs1220699278	missense variant	-	NC_000005.10:g.135028805G>A	gnomAD
PITX1	P78337	p.Asn308Ser	rs1312123736	missense variant	-	NC_000005.10:g.135028801T>C	TOPMed,gnomAD
PITX1	P78337	p.Asn308Lys	rs745378528	missense variant	-	NC_000005.10:g.135028800G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ala309Gly	rs535075716	missense variant	-	NC_000005.10:g.135028798G>C	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ala309Thr	rs140746945	missense variant	-	NC_000005.10:g.135028799C>T	ESP,ExAC,gnomAD
PITX1	P78337	p.Ala309Glu	rs535075716	missense variant	-	NC_000005.10:g.135028798G>T	ExAC,TOPMed,gnomAD
PITX1	P78337	p.Gln311Ter	rs752576335	stop gained	-	NC_000005.10:g.135028793G>A	ExAC,gnomAD
PITX1	P78337	p.Ser314Arg	rs374745950	missense variant	-	NC_000005.10:g.135028782G>C	ESP,ExAC,TOPMed,gnomAD
PITX1	P78337	p.Ter315Cys	rs766560623	stop lost	-	NC_000005.10:g.135028779T>G	ExAC,gnomAD
GTF2I	P78347	p.Ala2Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74689132G>A	NCI-TCGA
GTF2I	P78347	p.Val4Ala	rs1554396182	missense variant	-	NC_000007.14:g.74689139T>C	gnomAD
GTF2I	P78347	p.Ala5Gly	rs1437851275	missense variant	-	NC_000007.14:g.74689142C>G	TOPMed
GTF2I	P78347	p.Met6Thr	rs781807761	missense variant	-	NC_000007.14:g.74689145T>C	ExAC,gnomAD
GTF2I	P78347	p.Thr8Ala	rs1554396201	missense variant	-	NC_000007.14:g.74689150A>G	gnomAD
GTF2I	P78347	p.Leu9Ile	rs1554396209	missense variant	-	NC_000007.14:g.74689153C>A	gnomAD
GTF2I	P78347	p.Pro10Ser	rs782767960	missense variant	-	NC_000007.14:g.74689156C>T	ExAC,gnomAD
GTF2I	P78347	p.Val11Ile	rs782542929	missense variant	-	NC_000007.14:g.74689159G>A	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Glu14Asp	rs1178011726	missense variant	-	NC_000007.14:g.74689170G>C	TOPMed,gnomAD
GTF2I	P78347	p.Ser17Leu	rs782177453	missense variant	-	NC_000007.14:g.74689178C>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Glu18Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74689180G>A	NCI-TCGA
GTF2I	P78347	p.Arg20Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74689188G>C	NCI-TCGA
GTF2I	P78347	p.Met21Ile	rs1451194266	missense variant	-	NC_000007.14:g.74689191G>T	TOPMed
GTF2I	P78347	p.Met21Val	rs782238246	missense variant	-	NC_000007.14:g.74689189A>G	ExAC
GTF2I	P78347	p.Met27Thr	rs782199279	missense variant	-	NC_000007.14:g.74689208T>C	ExAC,gnomAD
GTF2I	P78347	p.Met27Leu	rs1554396246	missense variant	-	NC_000007.14:g.74689207A>C	gnomAD
GTF2I	P78347	p.Ser28Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74689211C>T	NCI-TCGA
GTF2I	P78347	p.Ala29Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74689214C>A	NCI-TCGA
GTF2I	P78347	p.Leu30Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74689216C>G	NCI-TCGA
GTF2I	P78347	p.Met33Thr	rs1554396253	missense variant	-	NC_000007.14:g.74689226T>C	-
GTF2I	P78347	p.Ser40Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74690992C>T	NCI-TCGA
GTF2I	P78347	p.Lys41Thr	rs782225301	missense variant	-	NC_000007.14:g.74690995A>C	ExAC,gnomAD
GTF2I	P78347	p.Lys41Glu	rs587739841	missense variant	-	NC_000007.14:g.74690994A>G	1000Genomes
GTF2I	P78347	p.Ala42Gly	rs201580003	missense variant	-	NC_000007.14:g.74690998C>G	1000Genomes
GTF2I	P78347	p.Glu43Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74691000G>A	NCI-TCGA
GTF2I	P78347	p.Ile47Val	rs1554396888	missense variant	-	NC_000007.14:g.74691012A>G	gnomAD
GTF2I	P78347	p.Asp53Gly	rs782022638	missense variant	-	NC_000007.14:g.74691031A>G	ExAC,gnomAD
GTF2I	P78347	p.Val54Met	rs368759932	missense variant	-	NC_000007.14:g.74691033G>A	ESP,TOPMed
GTF2I	P78347	p.Val54Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74691034T>C	NCI-TCGA
GTF2I	P78347	p.Phe55Leu	rs979904437	missense variant	-	NC_000007.14:g.74691038T>A	gnomAD
GTF2I	P78347	p.Val56Leu	rs1261533732	missense variant	-	NC_000007.14:g.74691039G>C	TOPMed
GTF2I	P78347	p.Val57Ala	rs1283124989	missense variant	-	NC_000007.14:g.74691043T>C	TOPMed
GTF2I	P78347	p.Val57Ile	rs1486175636	missense variant	-	NC_000007.14:g.74691042G>A	TOPMed
GTF2I	P78347	p.Arg63His	rs781967568	missense variant	-	NC_000007.14:g.74691061G>A	ExAC,gnomAD
GTF2I	P78347	p.Arg63Cys	rs924091625	missense variant	-	NC_000007.14:g.74691060C>T	gnomAD
GTF2I	P78347	p.Val66Leu	rs1309950856	missense variant	-	NC_000007.14:g.74691069G>C	TOPMed
GTF2I	P78347	p.Val66Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74691069G>A	NCI-TCGA
GTF2I	P78347	p.Asn67Asp	rs782088030	missense variant	-	NC_000007.14:g.74691072A>G	ExAC,gnomAD
GTF2I	P78347	p.Lys70Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74691083G>T	NCI-TCGA
GTF2I	P78347	p.Asp71Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74691084G>T	NCI-TCGA
GTF2I	P78347	p.Asp75Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74691096G>T	NCI-TCGA
GTF2I	P78347	p.Lys78Glu	rs782142169	missense variant	-	NC_000007.14:g.74691105A>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Lys78Thr	rs1554396930	missense variant	-	NC_000007.14:g.74691106A>C	gnomAD
GTF2I	P78347	p.Val81Leu	rs200063075	missense variant	-	NC_000007.14:g.74698963G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Glu83Val	rs1245840914	missense variant	-	NC_000007.14:g.74698970A>T	TOPMed,gnomAD
GTF2I	P78347	p.Glu85Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.74698975G>T	NCI-TCGA
GTF2I	P78347	p.Met90Thr	rs1323681403	missense variant	-	NC_000007.14:g.74698991T>C	TOPMed
GTF2I	P78347	p.Met93Val	rs1554399155	missense variant	-	NC_000007.14:g.74698999A>G	gnomAD
GTF2I	P78347	p.Lys94Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74699003A>C	NCI-TCGA
GTF2I	P78347	p.Ser95Cys	rs1554399160	missense variant	-	NC_000007.14:g.74699006C>G	gnomAD
GTF2I	P78347	p.Ser95Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74699006C>A	NCI-TCGA
GTF2I	P78347	p.Thr96Ala	rs782230656	missense variant	-	NC_000007.14:g.74699008A>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Thr97Ala	rs1554399163	missense variant	-	NC_000007.14:g.74699011A>G	gnomAD
GTF2I	P78347	p.Asn100His	rs1554399167	missense variant	-	NC_000007.14:g.74699020A>C	gnomAD
GTF2I	P78347	p.Arg101Gln	rs782120808	missense variant	-	NC_000007.14:g.74699024G>A	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg101Trp	rs782003787	missense variant	-	NC_000007.14:g.74699023C>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg101Gly	rs782003787	missense variant	-	NC_000007.14:g.74699023C>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Ser103Asn	rs1445142239	missense variant	-	NC_000007.14:g.74699030G>A	TOPMed
GTF2I	P78347	p.Val104Ile	rs906057032	missense variant	-	NC_000007.14:g.74699032G>A	TOPMed,gnomAD
GTF2I	P78347	p.Asp105His	rs782413639	missense variant	-	NC_000007.14:g.74699035G>C	ExAC,gnomAD
GTF2I	P78347	p.Ala106Thr	rs1458112170	missense variant	-	NC_000007.14:g.74699038G>A	TOPMed
GTF2I	P78347	p.Val107Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74699041G>C	NCI-TCGA
GTF2I	P78347	p.Ile109Leu	rs1369813298	missense variant	-	NC_000007.14:g.74699047A>C	TOPMed
GTF2I	P78347	p.Tyr119Cys	rs150259949	missense variant	-	NC_000007.14:g.74699078A>G	ESP,TOPMed,gnomAD
GTF2I	P78347	p.Tyr119His	rs782737598	missense variant	-	NC_000007.14:g.74699077T>C	ExAC,gnomAD
GTF2I	P78347	p.Tyr119Cys	RCV000489869	missense variant	-	NC_000007.14:g.74699078A>G	ClinVar
GTF2I	P78347	p.Phe122Tyr	rs1554399211	missense variant	-	NC_000007.14:g.74699087T>A	gnomAD
GTF2I	P78347	p.Cys123Trp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74699091C>G	NCI-TCGA
GTF2I	P78347	p.Leu128Phe	rs782799288	missense variant	-	NC_000007.14:g.74700257A>C	ExAC,gnomAD
GTF2I	P78347	p.Thr132TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.74700266_74700278CACAGTGGTACCT>-	NCI-TCGA
GTF2I	P78347	p.Val133Met	rs782057203	missense variant	-	NC_000007.14:g.74700270G>A	ExAC,gnomAD
GTF2I	P78347	p.Val134Leu	rs1378271459	missense variant	-	NC_000007.14:g.74700273G>T	TOPMed
GTF2I	P78347	p.Pro135Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74700276C>A	NCI-TCGA
GTF2I	P78347	p.Lys140Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74700291A>G	NCI-TCGA
GTF2I	P78347	p.Arg143Gln	rs145729076	missense variant	-	NC_000007.14:g.74700301G>A	ESP,ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg143Gly	rs1064765	missense variant	-	NC_000007.14:g.74700300C>G	ExAC,gnomAD
GTF2I	P78347	p.Arg143Ter	rs1064765	stop gained	-	NC_000007.14:g.74700300C>T	ExAC,gnomAD
GTF2I	P78347	p.Gln145His	rs782450205	missense variant	-	NC_000007.14:g.74700308G>T	ExAC,gnomAD
GTF2I	P78347	p.Gln145His	rs782450205	missense variant	-	NC_000007.14:g.74700308G>C	ExAC,gnomAD
GTF2I	P78347	p.Ser146Leu	rs782481420	missense variant	-	NC_000007.14:g.74700310C>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Ser146Pro	rs782228824	missense variant	-	NC_000007.14:g.74700309T>C	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Val148Met	rs782411031	missense variant	-	NC_000007.14:g.74700315G>A	ExAC,gnomAD
GTF2I	P78347	p.Val148Leu	rs782411031	missense variant	-	NC_000007.14:g.74700315G>C	ExAC,gnomAD
GTF2I	P78347	p.Gln151Arg	rs782015737	missense variant	-	NC_000007.14:g.74700325A>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Pro154Arg	rs782204993	missense variant	-	NC_000007.14:g.74700334C>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Pro154Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74700334C>T	NCI-TCGA
GTF2I	P78347	p.Pro154Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74700333C>T	NCI-TCGA
GTF2I	P78347	p.Ala158Val	rs782793898	missense variant	-	NC_000007.14:g.74700346C>T	ExAC
GTF2I	P78347	p.Glu163Asp	rs781788087	missense variant	-	NC_000007.14:g.74700362G>C	ExAC,gnomAD
GTF2I	P78347	p.Glu163Lys	rs587656081	missense variant	-	NC_000007.14:g.74700360G>A	1000Genomes,ExAC,gnomAD
GTF2I	P78347	p.Asn164Tyr	rs1554399541	missense variant	-	NC_000007.14:g.74700363A>T	gnomAD
GTF2I	P78347	p.Leu167Val	rs1417416844	missense variant	-	NC_000007.14:g.74700372C>G	TOPMed,gnomAD
GTF2I	P78347	p.Leu167His	rs1554399550	missense variant	-	NC_000007.14:g.74700373T>A	gnomAD
GTF2I	P78347	p.Trp172Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74700389G>T	NCI-TCGA
GTF2I	P78347	p.Leu174Val	rs1057896	missense variant	-	NC_000007.14:g.74700393T>G	UniProt,dbSNP
GTF2I	P78347	p.Leu174Val	VAR_051026	missense variant	-	NC_000007.14:g.74700393T>G	UniProt
GTF2I	P78347	p.Leu174Val	rs1057896	missense variant	-	NC_000007.14:g.74700393T>G	-
GTF2I	P78347	p.Glu175Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74700398G>C	NCI-TCGA
GTF2I	P78347	p.Phe182Leu	rs1249824042	missense variant	-	NC_000007.14:g.74700419C>A	TOPMed,gnomAD
GTF2I	P78347	p.Phe182HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.74700416_74700417insCACTCGGCTAATTTTTTTTT	NCI-TCGA
GTF2I	P78347	p.Phe182IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.74700415_74700416insT	NCI-TCGA
GTF2I	P78347	p.Lys185Glu	rs1489561711	missense variant	-	NC_000007.14:g.74700426A>G	TOPMed
GTF2I	P78347	p.Pro187Ser	rs1259679158	missense variant	-	NC_000007.14:g.74700607C>T	TOPMed
GTF2I	P78347	p.Leu189Ter	NCI-TCGA novel	frameshift	-	NC_000007.14:g.74700609T>-	NCI-TCGA
GTF2I	P78347	p.His194Asn	rs782702015	missense variant	-	NC_000007.14:g.74700628C>A	ExAC,gnomAD
GTF2I	P78347	p.His194Asp	rs782702015	missense variant	-	NC_000007.14:g.74700628C>G	ExAC,gnomAD
GTF2I	P78347	p.His194Leu	rs1554399641	missense variant	-	NC_000007.14:g.74700629A>T	gnomAD
GTF2I	P78347	p.His194Gln	rs147069558	missense variant	-	NC_000007.14:g.74700630T>A	ESP,ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Val195Ala	rs782431867	missense variant	-	NC_000007.14:g.74700632T>C	TOPMed,gnomAD
GTF2I	P78347	p.Gly196Val	rs781936472	missense variant	-	NC_000007.14:g.74705164G>T	ExAC,gnomAD
GTF2I	P78347	p.Gly197Cys	rs373330111	missense variant	-	NC_000007.14:g.74705166G>T	ESP,ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg198His	rs202085514	missense variant	-	NC_000007.14:g.74705170G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg198Cys	rs1163463075	missense variant	-	NC_000007.14:g.74705169C>T	TOPMed
GTF2I	P78347	p.Val199Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74705172G>C	NCI-TCGA
GTF2I	P78347	p.Thr202Ile	rs782134662	missense variant	-	NC_000007.14:g.74705182C>T	ExAC,gnomAD
GTF2I	P78347	p.Ala204Ser	rs781911148	missense variant	-	NC_000007.14:g.74705187G>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Ala204Thr	rs781911148	missense variant	-	NC_000007.14:g.74705187G>A	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg206Gly	rs782580708	missense variant	-	NC_000007.14:g.74705193A>G	ExAC,gnomAD
GTF2I	P78347	p.Arg206Lys	rs781834137	missense variant	-	NC_000007.14:g.74705194G>A	ExAC,gnomAD
GTF2I	P78347	p.Ser207Leu	rs368674948	missense variant	-	NC_000007.14:g.74705197C>T	ESP,ExAC,gnomAD
GTF2I	P78347	p.Ser207Thr	rs587751698	missense variant	-	NC_000007.14:g.74705196T>A	1000Genomes,ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Ser210Tyr	rs1554401029	missense variant	-	NC_000007.14:g.74705206C>A	gnomAD
GTF2I	P78347	p.Pro211Thr	rs1554401032	missense variant	-	NC_000007.14:g.74705208C>A	gnomAD
GTF2I	P78347	p.Pro211Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74705208C>G	NCI-TCGA
GTF2I	P78347	p.Gly212Ser	rs886875869	missense variant	-	NC_000007.14:g.74705211G>A	TOPMed
GTF2I	P78347	p.Gly213Ala	rs1554401036	missense variant	-	NC_000007.14:g.74705215G>C	gnomAD
GTF2I	P78347	p.Pro217Ser	rs1049146200	missense variant	-	NC_000007.14:g.74706397C>T	gnomAD
GTF2I	P78347	p.Ile218Met	rs1554401414	missense variant	-	NC_000007.14:g.74706402C>G	gnomAD
GTF2I	P78347	p.Lys219Ile	rs1554401416	missense variant	-	NC_000007.14:g.74706404A>T	gnomAD
GTF2I	P78347	p.Val220Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74706406G>T	NCI-TCGA
GTF2I	P78347	p.Glu223Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74706415G>A	NCI-TCGA
GTF2I	P78347	p.Thr225Ile	rs1554401421	missense variant	-	NC_000007.14:g.74706422C>T	gnomAD
GTF2I	P78347	p.Asp227Gly	rs782450272	missense variant	-	NC_000007.14:g.74706428A>G	ExAC,gnomAD
GTF2I	P78347	p.Ser228Ala	rs782564844	missense variant	-	NC_000007.14:g.74706430T>G	ExAC,gnomAD
GTF2I	P78347	p.Ser228Cys	rs1554401426	missense variant	-	NC_000007.14:g.74706431C>G	gnomAD
GTF2I	P78347	p.Ile230Ser	rs143885919	missense variant	-	NC_000007.14:g.74711035T>G	1000Genomes,ExAC,gnomAD
GTF2I	P78347	p.Ser231Phe	rs1554402418	missense variant	-	NC_000007.14:g.74711038C>T	gnomAD
GTF2I	P78347	p.Leu232Pro	rs781878557	missense variant	-	NC_000007.14:g.74711041T>C	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Ala235Pro	rs1554402432	missense variant	-	NC_000007.14:g.74711049G>C	gnomAD
GTF2I	P78347	p.Ala236Thr	rs1554402435	missense variant	-	NC_000007.14:g.74711052G>A	gnomAD
GTF2I	P78347	p.Thr238Ser	rs782675626	missense variant	-	NC_000007.14:g.74711058A>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Gln250Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74711094C>G	NCI-TCGA
GTF2I	P78347	p.Tyr251Cys	rs1554402445	missense variant	-	NC_000007.14:g.74711098A>G	gnomAD
GTF2I	P78347	p.Pro257Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74714863C>G	NCI-TCGA
GTF2I	P78347	p.Asp261Glu	rs782392915	missense variant	-	NC_000007.14:g.74714876T>G	ExAC,gnomAD
GTF2I	P78347	p.Val263Ala	rs782167572	missense variant	-	NC_000007.14:g.74714881T>C	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Val263Ile	rs781987759	missense variant	-	NC_000007.14:g.74714880G>A	ExAC,gnomAD
GTF2I	P78347	p.Asp264Glu	rs782406901	missense variant	-	NC_000007.14:g.74714885T>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Lys266Asn	rs782057494	missense variant	-	NC_000007.14:g.74714891A>C	ExAC,gnomAD
GTF2I	P78347	p.Ser270Leu	rs781866719	missense variant	-	NC_000007.14:g.74714902C>T	ExAC,gnomAD
GTF2I	P78347	p.Ser270Trp	rs781866719	missense variant	-	NC_000007.14:g.74714902C>G	ExAC,gnomAD
GTF2I	P78347	p.Lys271Glu	rs374288797	missense variant	-	NC_000007.14:g.74714904A>G	ExAC,gnomAD
GTF2I	P78347	p.Lys271Gln	rs374288797	missense variant	-	NC_000007.14:g.74714904A>C	ExAC,gnomAD
GTF2I	P78347	p.Gly275Arg	rs1284748851	missense variant	-	NC_000007.14:g.74714916G>C	TOPMed
GTF2I	P78347	p.Gly275Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74716894G>A	NCI-TCGA
GTF2I	P78347	p.His277Asn	rs1554403740	missense variant	-	NC_000007.14:g.74716899C>A	gnomAD
GTF2I	P78347	p.His278Gln	rs1554403745	missense variant	-	NC_000007.14:g.74716904T>G	gnomAD
GTF2I	P78347	p.His278Tyr	rs1554403742	missense variant	-	NC_000007.14:g.74716902C>T	gnomAD
GTF2I	P78347	p.Gly282Val	rs781919341	missense variant	-	NC_000007.14:g.74716915G>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Val290Ala	rs782819986	missense variant	-	NC_000007.14:g.74716939T>C	ExAC,gnomAD
GTF2I	P78347	p.Asp294Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74716950G>A	NCI-TCGA
GTF2I	P78347	p.Ser295Phe	rs1554404076	missense variant	-	NC_000007.14:g.74718882C>T	gnomAD
GTF2I	P78347	p.Thr296Asn	rs1554404078	missense variant	-	NC_000007.14:g.74718885C>A	gnomAD
GTF2I	P78347	p.Thr296Ser	rs1554404077	missense variant	-	NC_000007.14:g.74718884A>T	gnomAD
GTF2I	P78347	p.Gln297His	rs1554404079	missense variant	-	NC_000007.14:g.74718889A>T	gnomAD
GTF2I	P78347	p.Val299Ile	rs202059251	missense variant	-	NC_000007.14:g.74718893G>A	ESP,ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Val299Ala	rs951680847	missense variant	-	NC_000007.14:g.74718894T>C	TOPMed
GTF2I	P78347	p.Pro300His	rs781952004	missense variant	-	NC_000007.14:g.74718897C>A	ExAC,gnomAD
GTF2I	P78347	p.Thr303Ala	rs201733311	missense variant	-	NC_000007.14:g.74718905A>G	1000Genomes
GTF2I	P78347	p.Glu308Lys	rs1554404092	missense variant	-	NC_000007.14:g.74718920G>A	gnomAD
GTF2I	P78347	p.Glu310Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74718926G>A	NCI-TCGA
GTF2I	P78347	p.Val311Glu	rs1554404093	missense variant	-	NC_000007.14:g.74718930T>A	gnomAD
GTF2I	P78347	p.Ile313Ser	rs782779434	missense variant	-	NC_000007.14:g.74718936T>G	ExAC,gnomAD
GTF2I	P78347	p.Ile313Val	rs782130738	missense variant	-	NC_000007.14:g.74718935A>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Asp316Gly	rs1554406188	missense variant	-	NC_000007.14:g.74728789A>G	gnomAD
GTF2I	P78347	p.Tyr318Asp	rs1554406191	missense variant	-	NC_000007.14:g.74728794T>G	gnomAD
GTF2I	P78347	p.Pro321Leu	rs1554406192	missense variant	-	NC_000007.14:g.74728804C>T	gnomAD
GTF2I	P78347	p.Pro331Leu	rs1554406198	missense variant	-	NC_000007.14:g.74728834C>T	gnomAD
GTF2I	P78347	p.Pro336Leu	rs1195145913	missense variant	-	NC_000007.14:g.74728849C>T	TOPMed,gnomAD
GTF2I	P78347	p.Asn340Ser	rs1251817960	missense variant	-	NC_000007.14:g.74728861A>G	TOPMed,gnomAD
GTF2I	P78347	p.Asn340His	rs1466700180	missense variant	-	NC_000007.14:g.74728860A>C	TOPMed
GTF2I	P78347	p.Gln364Lys	rs1337735458	missense variant	-	NC_000007.14:g.74730264C>A	TOPMed
GTF2I	P78347	p.Ala374Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74732479C>T	NCI-TCGA
GTF2I	P78347	p.Gln375Lys	rs782443780	missense variant	-	NC_000007.14:g.74732481C>A	ExAC,gnomAD
GTF2I	P78347	p.Lys378Arg	rs782608384	missense variant	-	NC_000007.14:g.74732491A>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Pro382Leu	rs782215532	missense variant	-	NC_000007.14:g.74732503C>T	ExAC,gnomAD
GTF2I	P78347	p.Thr384Met	rs782631790	missense variant	-	NC_000007.14:g.74732509C>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Pro388Ala	rs782048314	missense variant	-	NC_000007.14:g.74732520C>G	ExAC,gnomAD
GTF2I	P78347	p.Pro388Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74732520C>A	NCI-TCGA
GTF2I	P78347	p.Leu389Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74732523C>G	NCI-TCGA
GTF2I	P78347	p.Gln391Ter	rs1614448	stop gained	-	NC_000007.14:g.74732529C>T	gnomAD
GTF2I	P78347	p.Gly401Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74732559G>C	NCI-TCGA
GTF2I	P78347	p.Leu402HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.74732554_74732581TAGAAGGACTTCCTGAAGGAATTCCTTT>-	NCI-TCGA
GTF2I	P78347	p.Ser412Cys	rs782139658	missense variant	-	NC_000007.14:g.74732593C>G	ExAC,gnomAD
GTF2I	P78347	p.Tyr414Ter	rs1404561582	stop gained	-	NC_000007.14:g.74732599dup	TOPMed
GTF2I	P78347	p.Tyr414Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.74732598_74732599insA	NCI-TCGA
GTF2I	P78347	p.Glu420Gly	rs1417975794	missense variant	-	NC_000007.14:g.74732617A>G	TOPMed
GTF2I	P78347	p.Leu424His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74732629T>A	NCI-TCGA
GTF2I	P78347	p.Glu427Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.74732637G>T	NCI-TCGA
GTF2I	P78347	p.Arg428Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74732641G>C	NCI-TCGA
GTF2I	P78347	p.Arg430Cys	rs782059244	missense variant	-	NC_000007.14:g.74732646C>T	ExAC,gnomAD
GTF2I	P78347	p.Arg430His	rs782683917	missense variant	-	NC_000007.14:g.74732647G>A	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Glu437Ala	rs782319002	missense variant	-	NC_000007.14:g.74733928A>C	ExAC,gnomAD
GTF2I	P78347	p.Glu437Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74733927G>C	NCI-TCGA
GTF2I	P78347	p.Asn440Ser	rs1135649	missense variant	-	NC_000007.14:g.74733937A>G	ExAC,gnomAD
GTF2I	P78347	p.Ser441Ala	rs782742467	missense variant	-	NC_000007.14:g.74733939T>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Ser441Pro	rs782742467	missense variant	-	NC_000007.14:g.74733939T>C	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Thr442Ala	rs1554407205	missense variant	-	NC_000007.14:g.74733942A>G	gnomAD
GTF2I	P78347	p.Arg443Cys	rs587719538	missense variant	-	NC_000007.14:g.74733945C>T	1000Genomes,ExAC,gnomAD
GTF2I	P78347	p.Arg443His	rs782113008	missense variant	-	NC_000007.14:g.74733946G>A	ExAC,gnomAD
GTF2I	P78347	p.Leu446Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74733954T>G	NCI-TCGA
GTF2I	P78347	p.Leu448Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74733960C>T	NCI-TCGA
GTF2I	P78347	p.Asp449His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74733963G>C	NCI-TCGA
GTF2I	P78347	p.Lys450Asn	rs1554407207	missense variant	-	NC_000007.14:g.74733968G>C	gnomAD
GTF2I	P78347	p.Pro451Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74733969C>T	NCI-TCGA
GTF2I	P78347	p.Ser453Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74733976C>T	NCI-TCGA
GTF2I	P78347	p.Thr464Ser	rs1554407395	missense variant	-	NC_000007.14:g.74735488C>G	gnomAD
GTF2I	P78347	p.Ile528Val	rs1554407468	missense variant	-	NC_000007.14:g.74736646A>G	TOPMed
GTF2I	P78347	p.Asn532Ser	rs1472417767	missense variant	-	NC_000007.14:g.74736659A>G	TOPMed,gnomAD
GTF2I	P78347	p.Leu544Arg	rs781923720	missense variant	-	NC_000007.14:g.74738056T>G	ExAC,gnomAD
GTF2I	P78347	p.His546Arg	rs782735877	missense variant	-	NC_000007.14:g.74738062A>G	ExAC,gnomAD
GTF2I	P78347	p.His546Asp	rs782103148	missense variant	-	NC_000007.14:g.74738061C>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Thr549Ala	rs1554407674	missense variant	-	NC_000007.14:g.74738070A>G	gnomAD
GTF2I	P78347	p.Thr549Ile	rs782521291	missense variant	-	NC_000007.14:g.74738071C>T	ExAC,gnomAD
GTF2I	P78347	p.Thr552Ala	rs1554407677	missense variant	-	NC_000007.14:g.74738079A>G	gnomAD
GTF2I	P78347	p.Gln553Glu	rs141809495	missense variant	-	NC_000007.14:g.74738082C>G	ESP,ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Gln553His	rs781797507	missense variant	-	NC_000007.14:g.74738084G>C	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Gln553His	rs781797507	missense variant	-	NC_000007.14:g.74738084G>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Thr556Met	rs782615736	missense variant	-	NC_000007.14:g.74738092C>T	ExAC,gnomAD
GTF2I	P78347	p.Thr558Ala	rs782516515	missense variant	-	NC_000007.14:g.74738097A>G	ExAC,gnomAD
GTF2I	P78347	p.Pro559Ala	rs782637508	missense variant	-	NC_000007.14:g.74738100C>G	ExAC,gnomAD
GTF2I	P78347	p.Lys561Arg	rs1439328322	missense variant	-	NC_000007.14:g.74743452A>G	TOPMed
GTF2I	P78347	p.Asn565Ser	rs1270640072	missense variant	-	NC_000007.14:g.74743464A>G	TOPMed
GTF2I	P78347	p.Thr569Ser	rs1554408523	missense variant	-	NC_000007.14:g.74743476C>G	gnomAD
GTF2I	P78347	p.Arg572Gln	rs782552411	missense variant	-	NC_000007.14:g.74743485G>A	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg572Trp	rs1554408524	missense variant	-	NC_000007.14:g.74743484C>T	gnomAD
GTF2I	P78347	p.Leu581Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74743513G>C	NCI-TCGA
GTF2I	P78347	p.Phe583Cys	rs1354973364	missense variant	-	NC_000007.14:g.74743518T>G	TOPMed,gnomAD
GTF2I	P78347	p.Leu587Phe	rs200729390	missense variant	-	NC_000007.14:g.74744766C>T	1000Genomes,ExAC,gnomAD
GTF2I	P78347	p.Pro596Arg	rs1554408829	missense variant	-	NC_000007.14:g.74744794C>G	gnomAD
GTF2I	P78347	p.Pro596Leu	rs1554408829	missense variant	-	NC_000007.14:g.74744794C>T	gnomAD
GTF2I	P78347	p.Tyr597His	rs1554408832	missense variant	-	NC_000007.14:g.74744796T>C	gnomAD
GTF2I	P78347	p.Pro598Ala	rs1554408833	missense variant	-	NC_000007.14:g.74744799C>G	gnomAD
GTF2I	P78347	p.Pro604Ser	rs1554408835	missense variant	-	NC_000007.14:g.74744817C>T	gnomAD
GTF2I	P78347	p.Pro604Arg	rs1554408837	missense variant	-	NC_000007.14:g.74744818C>G	TOPMed,gnomAD
GTF2I	P78347	p.Pro604Leu	rs1554408837	missense variant	-	NC_000007.14:g.74744818C>T	TOPMed,gnomAD
GTF2I	P78347	p.Leu607Phe	rs201985028	missense variant	-	NC_000007.14:g.74744828G>C	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Glu614Gln	rs1554408844	missense variant	-	NC_000007.14:g.74744847G>C	gnomAD
GTF2I	P78347	p.Pro617Ala	rs782219254	missense variant	-	NC_000007.14:g.74744856C>G	ExAC,gnomAD
GTF2I	P78347	p.Pro617Ser	rs782219254	missense variant	-	NC_000007.14:g.74744856C>T	ExAC,gnomAD
GTF2I	P78347	p.Arg619Ter	rs1554408856	stop gained	-	NC_000007.14:g.74744862C>T	gnomAD
GTF2I	P78347	p.Arg619Gln	rs782305536	missense variant	-	NC_000007.14:g.74744863G>A	ExAC,gnomAD
GTF2I	P78347	p.Ser620Arg	rs1554408858	missense variant	-	NC_000007.14:g.74744867C>G	gnomAD
GTF2I	P78347	p.Thr622Ser	rs782412315	missense variant	-	NC_000007.14:g.74744872C>G	ExAC,gnomAD
GTF2I	P78347	p.Pro627Leu	rs1554408861	missense variant	-	NC_000007.14:g.74744887C>T	gnomAD
GTF2I	P78347	p.Arg628Ter	rs1554408866	stop gained	-	NC_000007.14:g.74744889C>T	gnomAD
GTF2I	P78347	p.Arg628Gln	rs1554408868	missense variant	-	NC_000007.14:g.74744890G>A	gnomAD
GTF2I	P78347	p.Ile632Asn	rs782334160	missense variant	-	NC_000007.14:g.74744902T>A	ExAC,gnomAD
GTF2I	P78347	p.Val633Ile	rs139477988	missense variant	-	NC_000007.14:g.74744904G>A	1000Genomes,ESP,ExAC,gnomAD
GTF2I	P78347	p.Arg634Cys	rs587647930	missense variant	-	NC_000007.14:g.74744907C>T	1000Genomes,ExAC,gnomAD
GTF2I	P78347	p.Arg634His	rs1554408877	missense variant	-	NC_000007.14:g.74744908G>A	gnomAD
GTF2I	P78347	p.Gly635Arg	rs782067111	missense variant	-	NC_000007.14:g.74744910G>A	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Ser636Cys	rs782708791	missense variant	-	NC_000007.14:g.74744913A>T	ExAC,gnomAD
GTF2I	P78347	p.Val642Ile	rs1554408879	missense variant	-	NC_000007.14:g.74744931G>A	gnomAD
GTF2I	P78347	p.Glu647Gly	rs782253272	missense variant	-	NC_000007.14:g.74745888A>G	ExAC,gnomAD
GTF2I	P78347	p.Ile650Val	rs1554409026	missense variant	-	NC_000007.14:g.74745896A>G	gnomAD
GTF2I	P78347	p.Ile650Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74745896A>T	NCI-TCGA
GTF2I	P78347	p.Tyr652Asp	rs1554409030	missense variant	-	NC_000007.14:g.74745902T>G	gnomAD
GTF2I	P78347	p.Tyr652Cys	rs1554409033	missense variant	-	NC_000007.14:g.74745903A>G	gnomAD
GTF2I	P78347	p.Pro655His	rs587597791	missense variant	-	NC_000007.14:g.74745912C>A	1000Genomes
GTF2I	P78347	p.Gly656Glu	rs782031290	missense variant	-	NC_000007.14:g.74745915G>A	ExAC,gnomAD
GTF2I	P78347	p.Ala658Ser	rs1554409041	missense variant	-	NC_000007.14:g.74745920G>T	gnomAD
GTF2I	P78347	p.Thr663Ile	rs1330426057	missense variant	-	NC_000007.14:g.74745936C>T	TOPMed
GTF2I	P78347	p.Lys664Glu	rs1554409043	missense variant	-	NC_000007.14:g.74745938A>G	gnomAD
GTF2I	P78347	p.Lys664Arg	rs782325579	missense variant	-	NC_000007.14:g.74745939A>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg673Gln	rs1554409118	missense variant	-	NC_000007.14:g.74746361G>A	gnomAD
GTF2I	P78347	p.Val688Met	rs1250627760	missense variant	-	NC_000007.14:g.74746405G>A	TOPMed,gnomAD
GTF2I	P78347	p.Asn693Ser	rs782621842	missense variant	-	NC_000007.14:g.74748024A>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg702Gln	rs1221518361	missense variant	-	NC_000007.14:g.74748051G>A	TOPMed,gnomAD
GTF2I	P78347	p.Thr703Ala	rs1488726890	missense variant	-	NC_000007.14:g.74748053A>G	TOPMed,gnomAD
GTF2I	P78347	p.Thr703Ile	rs1554409427	missense variant	-	NC_000007.14:g.74748054C>T	gnomAD
GTF2I	P78347	p.Pro704Leu	rs1554409431	missense variant	-	NC_000007.14:g.74748057C>T	gnomAD
GTF2I	P78347	p.Thr707Ile	rs200224470	missense variant	-	NC_000007.14:g.74748066C>T	1000Genomes,ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Gly709Ser	rs1554409438	missense variant	-	NC_000007.14:g.74748071G>A	gnomAD
GTF2I	P78347	p.Val712Leu	rs1344216605	missense variant	-	NC_000007.14:g.74748080G>C	TOPMed,gnomAD
GTF2I	P78347	p.Val712Ile	rs1344216605	missense variant	-	NC_000007.14:g.74748080G>A	TOPMed,gnomAD
GTF2I	P78347	p.Arg717Ter	rs1401055646	stop gained	-	NC_000007.14:g.74748095C>T	TOPMed,gnomAD
GTF2I	P78347	p.Ala725Ser	rs1411232624	missense variant	-	NC_000007.14:g.74749027G>T	TOPMed
GTF2I	P78347	p.Ile730Val	rs1199881888	missense variant	-	NC_000007.14:g.74749042A>G	TOPMed
GTF2I	P78347	p.Ala760Thr	rs1322085555	missense variant	-	NC_000007.14:g.74749309G>A	TOPMed,gnomAD
GTF2I	P78347	p.Tyr770Phe	rs1228687461	missense variant	-	NC_000007.14:g.74749340A>T	TOPMed,gnomAD
GTF2I	P78347	p.Ser784Leu	rs1307717022	missense variant	-	NC_000007.14:g.74749382C>T	TOPMed
GTF2I	P78347	p.Pro789Leu	rs1554409610	missense variant	-	NC_000007.14:g.74749397C>T	gnomAD
GTF2I	P78347	p.Ile805Val	rs1363861905	missense variant	-	NC_000007.14:g.74749444A>G	TOPMed
GTF2I	P78347	p.Glu812Gly	rs1554409943	missense variant	-	NC_000007.14:g.74751375A>G	gnomAD
GTF2I	P78347	p.Thr813Met	rs1554409946	missense variant	-	NC_000007.14:g.74751378C>T	gnomAD
GTF2I	P78347	p.Ala814Val	rs1554409948	missense variant	-	NC_000007.14:g.74751381C>T	gnomAD
GTF2I	P78347	p.Ser818Asn	rs1554409953	missense variant	-	NC_000007.14:g.74751393G>A	gnomAD
GTF2I	P78347	p.Ile828Val	rs1232358974	missense variant	-	NC_000007.14:g.74752095A>G	TOPMed
GTF2I	P78347	p.Pro832His	rs1554410010	missense variant	-	NC_000007.14:g.74752108C>A	gnomAD
GTF2I	P78347	p.Asn833Asp	rs1323958246	missense variant	-	NC_000007.14:g.74752110A>G	TOPMed,gnomAD
GTF2I	P78347	p.Asn833His	rs1323958246	missense variant	-	NC_000007.14:g.74752110A>C	TOPMed,gnomAD
GTF2I	P78347	p.Asn833Ser	rs781951551	missense variant	-	NC_000007.14:g.74752111A>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Ser839Leu	rs782261089	missense variant	-	NC_000007.14:g.74752129C>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Ser839Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.74752129C>G	NCI-TCGA
GTF2I	P78347	p.Gly840Arg	rs782382396	missense variant	-	NC_000007.14:g.74752131G>C	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Asp843Glu	rs782036223	missense variant	-	NC_000007.14:g.74752142C>G	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Thr850Ala	rs782149583	missense variant	-	NC_000007.14:g.74752161A>G	ExAC,gnomAD
GTF2I	P78347	p.Asp853Tyr	rs1554410018	missense variant	-	NC_000007.14:g.74752170G>T	gnomAD
GTF2I	P78347	p.Asp853Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753094A>G	NCI-TCGA
GTF2I	P78347	p.Asp854Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753096G>A	NCI-TCGA
GTF2I	P78347	p.Asp855Tyr	rs782601028	missense variant	-	NC_000007.14:g.74753099G>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Glu857Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.74753105G>T	NCI-TCGA
GTF2I	P78347	p.Leu859Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753111C>A	NCI-TCGA
GTF2I	P78347	p.Ser860Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753115C>T	NCI-TCGA
GTF2I	P78347	p.Ser860Trp	rs782184501	missense variant	-	NC_000007.14:g.74753115C>G	ExAC,gnomAD
GTF2I	P78347	p.Val862Ala	rs1554410253	missense variant	-	NC_000007.14:g.74753121T>C	gnomAD
GTF2I	P78347	p.Val862Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753121T>A	NCI-TCGA
GTF2I	P78347	p.Lys864Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753128A>T	NCI-TCGA
GTF2I	P78347	p.Ala865SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.74753123_74753124insA	NCI-TCGA
GTF2I	P78347	p.Gln867Ter	rs1554410257	stop gained	-	NC_000007.14:g.74753135C>T	gnomAD
GTF2I	P78347	p.Gln871Ter	rs1443752038	stop gained	-	NC_000007.14:g.74753147C>T	TOPMed
GTF2I	P78347	p.Val872Ala	rs781998365	missense variant	-	NC_000007.14:g.74753151T>C	ExAC,gnomAD
GTF2I	P78347	p.Asn873Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753154A>C	NCI-TCGA
GTF2I	P78347	p.Phe876Ile	rs1554410265	missense variant	-	NC_000007.14:g.74753162T>A	gnomAD
GTF2I	P78347	p.Arg878Gln	rs782012327	missense variant	-	NC_000007.14:g.74753169G>A	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Arg878Trp	rs782419989	missense variant	-	NC_000007.14:g.74753168C>T	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Lys879Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753171A>G	NCI-TCGA
GTF2I	P78347	p.Phe880Ser	rs782688212	missense variant	-	NC_000007.14:g.74753175T>C	ExAC,gnomAD
GTF2I	P78347	p.Ile899Val	rs1353189544	missense variant	-	NC_000007.14:g.74753899A>G	TOPMed
GTF2I	P78347	p.Pro911ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.74753932C>-	NCI-TCGA
GTF2I	P78347	p.Glu922Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753969A>G	NCI-TCGA
GTF2I	P78347	p.Ser932Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74753999C>G	NCI-TCGA
GTF2I	P78347	p.Leu953Pro	rs1377780079	missense variant	-	NC_000007.14:g.74756823T>C	TOPMed
GTF2I	P78347	p.Val954Ile	rs1554410763	missense variant	-	NC_000007.14:g.74756825G>A	gnomAD
GTF2I	P78347	p.Asp955His	rs1279686438	missense variant	-	NC_000007.14:g.74756828G>C	TOPMed
GTF2I	P78347	p.Ser957Asn	rs1554410765	missense variant	-	NC_000007.14:g.74756835G>A	gnomAD
GTF2I	P78347	p.Ser959Thr	rs1554410769	missense variant	-	NC_000007.14:g.74756840T>A	gnomAD
GTF2I	P78347	p.Ser959Leu	rs373687583	missense variant	-	NC_000007.14:g.74756841C>T	ESP,ExAC,gnomAD
GTF2I	P78347	p.Gly961Val	rs1554410770	missense variant	-	NC_000007.14:g.74756847G>T	gnomAD
GTF2I	P78347	p.Val963Met	rs782277108	missense variant	-	NC_000007.14:g.74756852G>A	ExAC,TOPMed,gnomAD
GTF2I	P78347	p.Pro970Gln	rs1554410915	missense variant	-	NC_000007.14:g.74757971C>A	gnomAD
GTF2I	P78347	p.Pro976Leu	rs1554410921	missense variant	-	NC_000007.14:g.74757989C>T	gnomAD
GTF2I	P78347	p.Ala977Asp	rs1554410923	missense variant	-	NC_000007.14:g.74757992C>A	gnomAD
GTF2I	P78347	p.Glu980Lys	rs782593847	missense variant	-	NC_000007.14:g.74758000G>A	ExAC,gnomAD
GTF2I	P78347	p.Glu980Gly	rs1253960859	missense variant	-	NC_000007.14:g.74758780A>G	TOPMed,gnomAD
GTF2I	P78347	p.Ile981Met	rs1554411118	missense variant	-	NC_000007.14:g.74758784A>G	gnomAD
GTF2I	P78347	p.Ile981Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74758782A>G	NCI-TCGA
GTF2I	P78347	p.Thr984Pro	rs1209186099	missense variant	-	NC_000007.14:g.74758791A>C	TOPMed
GTF2I	P78347	p.Asp985Asn	rs1554411119	missense variant	-	NC_000007.14:g.74758794G>A	gnomAD
GTF2I	P78347	p.Ser987Gly	rs1554411125	missense variant	-	NC_000007.14:g.74758800A>G	gnomAD
GTF2I	P78347	p.Gln989Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.74758806C>G	NCI-TCGA
GTF2I	P78347	p.Ile990Val	rs1554411127	missense variant	-	NC_000007.14:g.74758809A>G	gnomAD
GTF2I	P78347	p.Pro996His	rs1260199641	missense variant	-	NC_000007.14:g.74758828C>A	TOPMed
GTF2I	P78347	p.Pro996Thr	rs1554411135	missense variant	-	NC_000007.14:g.74758827C>A	gnomAD
GTF2I	P78347	p.Thr997Met	rs1339916973	missense variant	-	NC_000007.14:g.74758831C>T	TOPMed
LACTB	P83111	p.Tyr2Phe	rs745611187	missense variant	-	NC_000015.10:g.63121876A>T	ExAC,gnomAD
LACTB	P83111	p.Tyr2Ter	rs1318497200	stop gained	-	NC_000015.10:g.63121877C>A	gnomAD
LACTB	P83111	p.Arg3Gln	rs1260013052	missense variant	-	NC_000015.10:g.63121879G>A	gnomAD
LACTB	P83111	p.Arg3Trp	rs771795019	missense variant	-	NC_000015.10:g.63121878C>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Leu4Ile	rs775466256	missense variant	-	NC_000015.10:g.63121881C>A	ExAC,gnomAD
LACTB	P83111	p.Leu4Phe	rs775466256	missense variant	-	NC_000015.10:g.63121881C>T	ExAC,gnomAD
LACTB	P83111	p.Met5Leu	rs34317102	missense variant	-	NC_000015.10:g.63121884A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Met5Ile	rs556450517	missense variant	-	NC_000015.10:g.63121886G>T	1000Genomes,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Met5Thr	rs1453922185	missense variant	-	NC_000015.10:g.63121885T>C	gnomAD
LACTB	P83111	p.Met5Ile	rs556450517	missense variant	-	NC_000015.10:g.63121886G>A	1000Genomes,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ser6Ter	rs1410523635	stop gained	-	NC_000015.10:g.63121888C>G	gnomAD
LACTB	P83111	p.Ser6Ter	rs1410523635	stop gained	-	NC_000015.10:g.63121888C>A	gnomAD
LACTB	P83111	p.Ser6Leu	rs1410523635	missense variant	-	NC_000015.10:g.63121888C>T	gnomAD
LACTB	P83111	p.Ala7Glu	rs776188282	missense variant	-	NC_000015.10:g.63121891C>A	ExAC,gnomAD
LACTB	P83111	p.Thr9Ala	rs1350934455	missense variant	-	NC_000015.10:g.63121896A>G	gnomAD
LACTB	P83111	p.Ala10Asp	rs1368111153	missense variant	-	NC_000015.10:g.63121900C>A	gnomAD
LACTB	P83111	p.Ala10Thr	rs1324528387	missense variant	-	NC_000015.10:g.63121899G>A	gnomAD
LACTB	P83111	p.Ala10Val	rs1368111153	missense variant	-	NC_000015.10:g.63121900C>T	gnomAD
LACTB	P83111	p.Arg11Gln	rs1019486651	missense variant	-	NC_000015.10:g.63121903G>A	TOPMed,gnomAD
LACTB	P83111	p.Arg11Trp	rs761314159	missense variant	-	NC_000015.10:g.63121902C>T	ExAC,gnomAD
LACTB	P83111	p.Arg11Gly	rs761314159	missense variant	-	NC_000015.10:g.63121902C>G	ExAC,gnomAD
LACTB	P83111	p.Ala12Thr	rs764809586	missense variant	-	NC_000015.10:g.63121905G>A	ExAC,gnomAD
LACTB	P83111	p.Ala13Thr	rs750094530	missense variant	-	NC_000015.10:g.63121908G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ala13Val	rs1215464278	missense variant	-	NC_000015.10:g.63121909C>T	gnomAD
LACTB	P83111	p.Ala14Asp	rs767825159	missense variant	-	NC_000015.10:g.63121912C>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Pro15Thr	rs1234763364	missense variant	-	NC_000015.10:g.63121914C>A	gnomAD
LACTB	P83111	p.Pro15His	rs1468824714	missense variant	-	NC_000015.10:g.63121915C>A	gnomAD
LACTB	P83111	p.Gly16Arg	RCV000201410	missense variant	-	NC_000015.10:g.63121917G>C	ClinVar
LACTB	P83111	p.Gly16Arg	rs34925488	missense variant	-	NC_000015.10:g.63121917G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gly16Arg	rs34925488	missense variant	-	NC_000015.10:g.63121917G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gly17Ser	rs139879323	missense variant	-	NC_000015.10:g.63121920G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gly17Asp	rs778350908	missense variant	-	NC_000015.10:g.63121921G>A	ExAC,gnomAD
LACTB	P83111	p.Gly17AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63121912C>-	NCI-TCGA
LACTB	P83111	p.Ser21Thr	rs757436737	missense variant	-	NC_000015.10:g.63121933G>C	ExAC,gnomAD
LACTB	P83111	p.Ser21Gly	rs753912650	missense variant	-	NC_000015.10:g.63121932A>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ser21Asn	rs757436737	missense variant	-	NC_000015.10:g.63121933G>A	ExAC,gnomAD
LACTB	P83111	p.Arg24Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63121942G>A	NCI-TCGA
LACTB	P83111	p.Arg25Cys	rs34297800	missense variant	-	NC_000015.10:g.63121944C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Arg25Ser	rs34297800	missense variant	-	NC_000015.10:g.63121944C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Val27Ile	rs926506385	missense variant	-	NC_000015.10:g.63121950G>A	TOPMed
LACTB	P83111	p.Arg30Cys	rs1439603440	missense variant	-	NC_000015.10:g.63121959C>T	gnomAD
LACTB	P83111	p.Leu33Val	rs1048982587	missense variant	-	NC_000015.10:g.63121968C>G	TOPMed
LACTB	P83111	p.Pro34Arg	rs779768860	missense variant	-	NC_000015.10:g.63121972C>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Pro34Thr	rs1409806641	missense variant	-	NC_000015.10:g.63121971C>A	TOPMed
LACTB	P83111	p.Gly37Asp	rs1334088859	missense variant	-	NC_000015.10:g.63121981G>A	TOPMed,gnomAD
LACTB	P83111	p.Gly37Ser	rs1291347840	missense variant	-	NC_000015.10:g.63121980G>A	TOPMed,gnomAD
LACTB	P83111	p.Gly37Arg	rs1291347840	missense variant	-	NC_000015.10:g.63121980G>C	TOPMed,gnomAD
LACTB	P83111	p.His38Arg	rs1487375349	missense variant	-	NC_000015.10:g.63121984A>G	TOPMed
LACTB	P83111	p.Trp40Cys	rs768408264	missense variant	-	NC_000015.10:g.63121991G>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Trp40Arg	rs1275231905	missense variant	-	NC_000015.10:g.63121989T>A	gnomAD
LACTB	P83111	p.Trp40Cys	rs768408264	missense variant	-	NC_000015.10:g.63121991G>C	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gly47Arg	rs1330668515	missense variant	-	NC_000015.10:g.63122010G>C	TOPMed
LACTB	P83111	p.Ala51Val	rs1417685394	missense variant	-	NC_000015.10:g.63122023C>T	gnomAD
LACTB	P83111	p.Ala51Ser	rs1040216846	missense variant	-	NC_000015.10:g.63122022G>T	TOPMed,gnomAD
LACTB	P83111	p.Leu52Ile	rs1454778096	missense variant	-	NC_000015.10:g.63122025C>A	gnomAD
LACTB	P83111	p.Gly53Glu	rs901669698	missense variant	-	NC_000015.10:g.63122029G>A	gnomAD
LACTB	P83111	p.Gly53Arg	rs761260684	missense variant	-	NC_000015.10:g.63122028G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gly53Ala	rs901669698	missense variant	-	NC_000015.10:g.63122029G>C	gnomAD
LACTB	P83111	p.Gly53Trp	rs761260684	missense variant	-	NC_000015.10:g.63122028G>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gly53Arg	rs761260684	missense variant	-	NC_000015.10:g.63122028G>C	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gly59Arg	rs1421003653	missense variant	-	NC_000015.10:g.63122046G>A	gnomAD
LACTB	P83111	p.Arg61Gly	rs1455519051	missense variant	-	NC_000015.10:g.63122052A>G	TOPMed
LACTB	P83111	p.Ala64Gly	rs769320798	missense variant	-	NC_000015.10:g.63122062C>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Pro65Leu	rs1008166998	missense variant	-	NC_000015.10:g.63122065C>T	TOPMed
LACTB	P83111	p.Ser68Cys	rs966582560	missense variant	-	NC_000015.10:g.63122074C>G	TOPMed,gnomAD
LACTB	P83111	p.Ser68Phe	rs966582560	missense variant	-	NC_000015.10:g.63122074C>T	TOPMed,gnomAD
LACTB	P83111	p.Ala70Glu	rs762573699	missense variant	-	NC_000015.10:g.63122080C>A	ExAC,gnomAD
LACTB	P83111	p.Ala70Thr	rs772833685	missense variant	-	NC_000015.10:g.63122079G>A	ExAC,gnomAD
LACTB	P83111	p.Ala71Val	rs1214119006	missense variant	-	NC_000015.10:g.63122083C>T	gnomAD
LACTB	P83111	p.Ala71Ser	rs1337522339	missense variant	-	NC_000015.10:g.63122082G>T	gnomAD
LACTB	P83111	p.Pro72Leu	rs1033334829	missense variant	-	NC_000015.10:g.63122086C>T	gnomAD
LACTB	P83111	p.Pro72Thr	rs1434681792	missense variant	-	NC_000015.10:g.63122085C>A	gnomAD
LACTB	P83111	p.Asp73Asn	rs1209124514	missense variant	-	NC_000015.10:g.63122088G>A	gnomAD
LACTB	P83111	p.Pro74Thr	rs1257289041	missense variant	-	NC_000015.10:g.63122091C>A	gnomAD
LACTB	P83111	p.Ser77Thr	rs959647146	missense variant	-	NC_000015.10:g.63122100T>A	TOPMed,gnomAD
LACTB	P83111	p.Leu79Val	rs1240934900	missense variant	-	NC_000015.10:g.63122106C>G	TOPMed,gnomAD
LACTB	P83111	p.Ala80Thr	rs1465997745	missense variant	-	NC_000015.10:g.63122109G>A	TOPMed
LACTB	P83111	p.Ala80Val	rs1371217657	missense variant	-	NC_000015.10:g.63122110C>T	gnomAD
LACTB	P83111	p.Glu81Lys	rs1474135633	missense variant	-	NC_000015.10:g.63122112G>A	TOPMed,gnomAD
LACTB	P83111	p.Gln84His	rs1231666157	missense variant	-	NC_000015.10:g.63122123G>C	TOPMed
LACTB	P83111	p.Gln84Leu	rs1258352731	missense variant	-	NC_000015.10:g.63122122A>T	TOPMed
LACTB	P83111	p.Ser87Pro	rs1330933766	missense variant	-	NC_000015.10:g.63122130T>C	TOPMed
LACTB	P83111	p.Ala89Ser	rs1395243046	missense variant	-	NC_000015.10:g.63122136G>T	gnomAD
LACTB	P83111	p.Pro90Leu	rs767923145	missense variant	-	NC_000015.10:g.63122140C>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Pro90Arg	rs767923145	missense variant	-	NC_000015.10:g.63122140C>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ser92Phe	rs761116317	missense variant	-	NC_000015.10:g.63122146C>T	ExAC,gnomAD
LACTB	P83111	p.Pro93Arg	rs1324631782	missense variant	-	NC_000015.10:g.63122149C>G	gnomAD
LACTB	P83111	p.Pro93Thr	rs1320187078	missense variant	-	NC_000015.10:g.63122148C>A	gnomAD
LACTB	P83111	p.Pro93Ala	rs1320187078	missense variant	-	NC_000015.10:g.63122148C>G	gnomAD
LACTB	P83111	p.Thr95Asn	rs931376974	missense variant	-	NC_000015.10:g.63122155C>A	TOPMed,gnomAD
LACTB	P83111	p.Pro96Ser	rs757381709	missense variant	-	NC_000015.10:g.63122157C>T	ExAC,gnomAD
LACTB	P83111	p.Pro96Thr	rs757381709	missense variant	-	NC_000015.10:g.63122157C>A	ExAC,gnomAD
LACTB	P83111	p.Pro96Gln	rs943328168	missense variant	-	NC_000015.10:g.63122158C>A	TOPMed,gnomAD
LACTB	P83111	p.Pro96Leu	rs943328168	missense variant	-	NC_000015.10:g.63122158C>T	TOPMed,gnomAD
LACTB	P83111	p.Ala97Val	rs1354862239	missense variant	-	NC_000015.10:g.63122161C>T	gnomAD
LACTB	P83111	p.Ala97Glu	rs1354862239	missense variant	-	NC_000015.10:g.63122161C>A	gnomAD
LACTB	P83111	p.Pro99Ser	rs1282705282	missense variant	-	NC_000015.10:g.63122166C>T	gnomAD
LACTB	P83111	p.Ser101Cys	rs750643781	missense variant	-	NC_000015.10:g.63122173C>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Cys103Tyr	rs780326976	missense variant	-	NC_000015.10:g.63122179G>A	ExAC,gnomAD
LACTB	P83111	p.Cys103Trp	rs992430035	missense variant	-	NC_000015.10:g.63122180C>G	TOPMed
LACTB	P83111	p.Ala105Val	rs917770897	missense variant	-	NC_000015.10:g.63122185C>T	TOPMed
LACTB	P83111	p.Ala105Ser	rs1319732758	missense variant	-	NC_000015.10:g.63122184G>T	TOPMed,gnomAD
LACTB	P83111	p.Arg106Gly	rs746721789	missense variant	-	NC_000015.10:g.63122187A>G	ExAC,gnomAD
LACTB	P83111	p.Ala107Thr	rs781063730	missense variant	-	NC_000015.10:g.63122190G>A	ExAC,gnomAD
LACTB	P83111	p.Ile108Thr	rs1382642791	missense variant	-	NC_000015.10:g.63122194T>C	gnomAD
LACTB	P83111	p.Ile108Met	rs1400065234	missense variant	-	NC_000015.10:g.63122195C>G	TOPMed,gnomAD
LACTB	P83111	p.Ile108Ser	rs1382642791	missense variant	-	NC_000015.10:g.63122194T>G	gnomAD
LACTB	P83111	p.Ile108Phe	rs1160089168	missense variant	-	NC_000015.10:g.63122193A>T	TOPMed,gnomAD
LACTB	P83111	p.Glu109Val	rs748119566	missense variant	-	NC_000015.10:g.63122197A>T	ExAC,gnomAD
LACTB	P83111	p.Ser110Gly	rs1396751227	missense variant	-	NC_000015.10:g.63122199A>G	gnomAD
LACTB	P83111	p.Ser111Asn	rs1344931866	missense variant	-	NC_000015.10:g.63122203G>A	TOPMed
LACTB	P83111	p.Asp113Tyr	rs1302936074	missense variant	-	NC_000015.10:g.63122208G>T	gnomAD
LACTB	P83111	p.His116Arg	rs748838431	missense variant	-	NC_000015.10:g.63122218A>G	ExAC,gnomAD
LACTB	P83111	p.His116Leu	rs748838431	missense variant	-	NC_000015.10:g.63122218A>T	ExAC,gnomAD
LACTB	P83111	p.Arg117Trp	rs201581882	missense variant	-	NC_000015.10:g.63122220A>T	1000Genomes,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Arg117Gly	rs201581882	missense variant	-	NC_000015.10:g.63122220A>G	1000Genomes,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ile118Val	rs1214827658	missense variant	-	NC_000015.10:g.63122223A>G	gnomAD
LACTB	P83111	p.Lys119Asn	rs1275670265	missense variant	-	NC_000015.10:g.63122228G>C	TOPMed,gnomAD
LACTB	P83111	p.Lys119Glu	rs1236422103	missense variant	-	NC_000015.10:g.63122226A>G	gnomAD
LACTB	P83111	p.Val122Met	rs1368705030	missense variant	-	NC_000015.10:g.63122642G>A	TOPMed
LACTB	P83111	p.Gly123Ser	rs553328061	missense variant	-	NC_000015.10:g.63122645G>A	1000Genomes,ExAC,gnomAD
LACTB	P83111	p.Gly126Ser	rs1229053497	missense variant	-	NC_000015.10:g.63122654G>A	gnomAD
LACTB	P83111	p.Ile127Met	rs1456599781	missense variant	-	NC_000015.10:g.63122659A>G	TOPMed
LACTB	P83111	p.Ile127Leu	rs775511153	missense variant	-	NC_000015.10:g.63122657A>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ile127Val	rs775511153	missense variant	-	NC_000015.10:g.63122657A>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Val129LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63122662G>-	NCI-TCGA
LACTB	P83111	p.Val131Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63122669G>T	NCI-TCGA
LACTB	P83111	p.Asp134Val	rs1211288563	missense variant	-	NC_000015.10:g.63122679A>T	gnomAD
LACTB	P83111	p.Asp134Asn	rs910930306	missense variant	-	NC_000015.10:g.63122678G>A	TOPMed
LACTB	P83111	p.Gly135Glu	rs1259387551	missense variant	-	NC_000015.10:g.63122682G>A	gnomAD
LACTB	P83111	p.Glu137LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63122683A>-	NCI-TCGA
LACTB	P83111	p.Glu137Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63122687G>A	NCI-TCGA
LACTB	P83111	p.Ser140Ter	rs1458834497	stop gained	-	NC_000015.10:g.63122697C>G	TOPMed
LACTB	P83111	p.Glu141Asp	rs767735544	missense variant	-	NC_000015.10:g.63122701A>T	ExAC,gnomAD
LACTB	P83111	p.Gly144Val	rs759627744	missense variant	-	NC_000015.10:g.63126865G>T	ExAC,gnomAD
LACTB	P83111	p.Gly144Ser	rs1194766963	missense variant	-	NC_000015.10:g.63126864G>A	TOPMed
LACTB	P83111	p.Ala146Thr	rs767680456	missense variant	-	NC_000015.10:g.63126870G>A	ExAC,gnomAD
LACTB	P83111	p.Asp147Glu	rs1472079411	missense variant	-	NC_000015.10:g.63126875T>A	gnomAD
LACTB	P83111	p.Asp147Val	rs752950180	missense variant	-	NC_000015.10:g.63126874A>T	ExAC,gnomAD
LACTB	P83111	p.Val148Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63126876G>T	NCI-TCGA
LACTB	P83111	p.Glu149Gln	rs1444806023	missense variant	-	NC_000015.10:g.63126879G>C	TOPMed
LACTB	P83111	p.Glu149Asp	rs1347424920	missense variant	-	NC_000015.10:g.63126881G>C	gnomAD
LACTB	P83111	p.Arg151His	rs760433188	missense variant	-	NC_000015.10:g.63126886G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Val152Ile	rs528872860	missense variant	-	NC_000015.10:g.63126888G>A	1000Genomes
LACTB	P83111	p.Pro153Ala	rs1387240178	missense variant	-	NC_000015.10:g.63126891C>G	gnomAD
LACTB	P83111	p.Cys154Trp	rs1419045863	missense variant	-	NC_000015.10:g.63126896T>G	gnomAD
LACTB	P83111	p.Lys155Glu	rs1261729823	missense variant	-	NC_000015.10:g.63126897A>G	TOPMed
LACTB	P83111	p.Glu157Asp	rs1368336615	missense variant	-	NC_000015.10:g.63126905G>C	gnomAD
LACTB	P83111	p.Glu157Ala	rs994505528	missense variant	-	NC_000015.10:g.63126904A>C	gnomAD
LACTB	P83111	p.Glu157Gly	rs994505528	missense variant	-	NC_000015.10:g.63126904A>G	gnomAD
LACTB	P83111	p.Thr158Ile	rs1223247483	missense variant	-	NC_000015.10:g.63126907C>T	TOPMed
LACTB	P83111	p.Met160Thr	rs1218382630	missense variant	-	NC_000015.10:g.63126913T>C	gnomAD
LACTB	P83111	p.Arg161Gln	rs1318554352	missense variant	-	NC_000015.10:g.63126916G>A	gnomAD
LACTB	P83111	p.Arg161Ter	rs763998435	stop gained	-	NC_000015.10:g.63126915C>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ala163Val	rs141345466	missense variant	-	NC_000015.10:g.63126922C>T	ESP
LACTB	P83111	p.Ser164Gly	rs1213516285	missense variant	-	NC_000015.10:g.63126924A>G	gnomAD
LACTB	P83111	p.Ser166Arg	rs1428842499	missense variant	-	NC_000015.10:g.63126930A>C	TOPMed
LACTB	P83111	p.Lys167Glu	rs753707105	missense variant	-	NC_000015.10:g.63126933A>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ser168ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63126933A>-	NCI-TCGA
LACTB	P83111	p.Leu169Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63126939C>A	NCI-TCGA
LACTB	P83111	p.Leu169HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63126933_63126934AA>-	NCI-TCGA
LACTB	P83111	p.Met171Ile	rs1408206470	missense variant	-	NC_000015.10:g.63126947G>C	TOPMed
LACTB	P83111	p.Met171Val	rs1215652228	missense variant	-	NC_000015.10:g.63126945A>G	TOPMed,gnomAD
LACTB	P83111	p.Ala175Pro	rs757284857	missense variant	-	NC_000015.10:g.63126957G>C	ExAC,gnomAD
LACTB	P83111	p.Lys176Thr	rs1488296899	missense variant	-	NC_000015.10:g.63126961A>C	TOPMed,gnomAD
LACTB	P83111	p.Leu177Val	rs778720573	missense variant	-	NC_000015.10:g.63126963T>G	ExAC,gnomAD
LACTB	P83111	p.Gly181Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63126975G>A	NCI-TCGA
LACTB	P83111	p.Leu185Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63126987C>A	NCI-TCGA
LACTB	P83111	p.Pro188Leu	rs1020479854	missense variant	-	NC_000015.10:g.63126997C>T	TOPMed,gnomAD
LACTB	P83111	p.Pro188Ser	rs753526102	missense variant	-	NC_000015.10:g.63126996C>T	ExAC,gnomAD
LACTB	P83111	p.Val189Ala	rs1327364159	missense variant	-	NC_000015.10:g.63127000T>C	gnomAD
LACTB	P83111	p.Val189Ile	rs779810437	missense variant	-	NC_000015.10:g.63126999G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Val193Ile	rs1347702142	missense variant	-	NC_000015.10:g.63127011G>A	gnomAD
LACTB	P83111	p.Glu195Lys	rs746697600	missense variant	-	NC_000015.10:g.63127017G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Glu200Val	rs376443763	missense variant	-	NC_000015.10:g.63127033A>T	ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Glu200Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.63127032G>T	NCI-TCGA
LACTB	P83111	p.Tyr201Ter	rs76611228	stop gained	-	NC_000015.10:g.63127037T>G	1000Genomes,gnomAD
LACTB	P83111	p.Tyr201Cys	rs1319073824	missense variant	-	NC_000015.10:g.63127036A>G	TOPMed
LACTB	P83111	p.Glu202Gly	rs1260320609	missense variant	-	NC_000015.10:g.63127039A>G	TOPMed
LACTB	P83111	p.Gly203Asp	rs771415441	missense variant	-	NC_000015.10:g.63127042G>A	ExAC,gnomAD
LACTB	P83111	p.Gly203Arg	rs749623514	missense variant	-	NC_000015.10:g.63127041G>C	ExAC,gnomAD
LACTB	P83111	p.Lys205Asn	rs774864003	missense variant	-	NC_000015.10:g.63127049G>C	ExAC
LACTB	P83111	p.Val206Ala	rs1416524119	missense variant	-	NC_000015.10:g.63127354T>C	gnomAD
LACTB	P83111	p.Thr210Ala	rs1291411758	missense variant	-	NC_000015.10:g.63127365A>G	gnomAD
LACTB	P83111	p.Arg211Gly	rs368829983	missense variant	-	NC_000015.10:g.63127368A>G	ESP,ExAC,gnomAD
LACTB	P83111	p.Arg211Ser	rs751240045	missense variant	-	NC_000015.10:g.63127370A>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Arg211Ile	rs766032294	missense variant	-	NC_000015.10:g.63127369G>T	ExAC,gnomAD
LACTB	P83111	p.Leu213Pro	rs754596627	missense variant	-	NC_000015.10:g.63127375T>C	ExAC,gnomAD
LACTB	P83111	p.His216Gln	rs780725423	missense variant	-	NC_000015.10:g.63127385T>A	ExAC,gnomAD
LACTB	P83111	p.Ile220Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63127397T>G	NCI-TCGA
LACTB	P83111	p.Arg221His	rs142422927	missense variant	-	NC_000015.10:g.63127399G>A	ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Arg221Cys	rs1486880436	missense variant	-	NC_000015.10:g.63127398C>T	gnomAD
LACTB	P83111	p.His222Pro	rs755533365	missense variant	-	NC_000015.10:g.63127402A>C	gnomAD
LACTB	P83111	p.His222Arg	rs755533365	missense variant	-	NC_000015.10:g.63127402A>G	gnomAD
LACTB	P83111	p.Tyr223Ser	rs779362563	missense variant	-	NC_000015.10:g.63127405A>C	ExAC,gnomAD
LACTB	P83111	p.Tyr223Asp	rs757597249	missense variant	-	NC_000015.10:g.63127404T>G	ExAC,gnomAD
LACTB	P83111	p.Lys225Asn	rs746424994	missense variant	-	NC_000015.10:g.63127412G>T	ExAC,gnomAD
LACTB	P83111	p.Lys228Glu	rs772125791	missense variant	-	NC_000015.10:g.63127419A>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Glu232Lys	COSM1373921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63127431G>A	NCI-TCGA Cosmic
LACTB	P83111	p.Glu233Lys	rs1339821752	missense variant	-	NC_000015.10:g.63127434G>A	TOPMed,gnomAD
LACTB	P83111	p.Glu233Gln	rs1339821752	missense variant	-	NC_000015.10:g.63127434G>C	TOPMed,gnomAD
LACTB	P83111	p.Ala235Asp	rs1291212766	missense variant	-	NC_000015.10:g.63127441C>A	TOPMed
LACTB	P83111	p.Ala235Thr	rs768865373	missense variant	-	NC_000015.10:g.63127440G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Tyr236His	rs776738955	missense variant	-	NC_000015.10:g.63127443T>C	ExAC,gnomAD
LACTB	P83111	p.Ala238Thr	rs1227904284	missense variant	-	NC_000015.10:g.63127449G>A	gnomAD
LACTB	P83111	p.Ala238Val	rs1304528542	missense variant	-	NC_000015.10:g.63127450C>T	gnomAD
LACTB	P83111	p.Leu239Phe	rs761627317	missense variant	-	NC_000015.10:g.63127454G>C	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Lys240Arg	rs1317496435	missense variant	-	NC_000015.10:g.63127456A>G	TOPMed
LACTB	P83111	p.Met241Ile	rs765161553	missense variant	-	NC_000015.10:g.63127460G>T	ExAC,gnomAD
LACTB	P83111	p.Met242Lys	rs773258779	missense variant	-	NC_000015.10:g.63127462T>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Lys243Gln	rs930437390	missense variant	-	NC_000015.10:g.63127464A>C	TOPMed
LACTB	P83111	p.Phe248IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63127477_63127478insT	NCI-TCGA
LACTB	P83111	p.Glu249Lys	rs763038053	missense variant	-	NC_000015.10:g.63127482G>A	ExAC,gnomAD
LACTB	P83111	p.Glu249Gln	rs763038053	missense variant	-	NC_000015.10:g.63127482G>C	ExAC,gnomAD
LACTB	P83111	p.Gln250Glu	rs765980175	missense variant	-	NC_000015.10:g.63127485C>G	ExAC,gnomAD
LACTB	P83111	p.Glu251Gln	rs984588886	missense variant	-	NC_000015.10:g.63127488G>C	TOPMed,gnomAD
LACTB	P83111	p.Lys252Arg	rs751058328	missense variant	-	NC_000015.10:g.63127492A>G	ExAC,gnomAD
LACTB	P83111	p.Glu253LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63127489A>-	NCI-TCGA
LACTB	P83111	p.Gly254Val	rs754471151	missense variant	-	NC_000015.10:g.63127498G>T	ExAC,gnomAD
LACTB	P83111	p.Lys255Gln	rs34536322	missense variant	-	NC_000015.10:g.63127500A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Lys255Arg	rs752336094	missense variant	-	NC_000015.10:g.63127501A>G	ExAC,gnomAD
LACTB	P83111	p.Asn257Lys	rs750803911	missense variant	-	NC_000015.10:g.63127508T>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Lys259AsnSerIleThrIleLeuThrTerLysIleUnk	rs1401193349	stop gained	-	NC_000015.10:g.63127513_63127514insTTCAATTACAATATTAACCTGAAAAATA	gnomAD
LACTB	P83111	p.Lys259Asn	rs779309517	missense variant	-	NC_000015.10:g.63127514G>C	ExAC
LACTB	P83111	p.Asn260Lys	rs746371664	missense variant	-	NC_000015.10:g.63127517T>A	ExAC
LACTB	P83111	p.Asp261Tyr	rs758834671	missense variant	-	NC_000015.10:g.63127518G>T	ExAC,gnomAD
LACTB	P83111	p.Asp261Val	rs1386537785	missense variant	-	NC_000015.10:g.63127519A>T	gnomAD
LACTB	P83111	p.Asp261Asn	rs758834671	missense variant	-	NC_000015.10:g.63127518G>A	ExAC,gnomAD
LACTB	P83111	p.Phe262Val	rs780550541	missense variant	-	NC_000015.10:g.63127521T>G	ExAC,gnomAD
LACTB	P83111	p.Lys264Arg	rs1486870661	missense variant	-	NC_000015.10:g.63127528A>G	gnomAD
LACTB	P83111	p.Phe265LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000015.10:g.63127531_63127532insAACCTGAAAAA	NCI-TCGA
LACTB	P83111	p.Phe265Leu	rs182421897	missense variant	-	NC_000015.10:g.63127532T>G	1000Genomes,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Lys266ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63127533_63127534insG	NCI-TCGA
LACTB	P83111	p.Thr267Lys	rs896127135	missense variant	-	NC_000015.10:g.63127537C>A	TOPMed,gnomAD
LACTB	P83111	p.Thr267Ala	rs140622762	missense variant	-	NC_000015.10:g.63127536A>G	ESP,TOPMed,gnomAD
LACTB	P83111	p.Glu268Lys	rs748363340	missense variant	-	NC_000015.10:g.63127539G>A	ExAC,gnomAD
LACTB	P83111	p.Gln269Ter	rs535481475	stop gained	-	NC_000015.10:g.63127542C>T	1000Genomes,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gln269Glu	rs535481475	missense variant	-	NC_000015.10:g.63127542C>G	1000Genomes,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Glu270Ala	rs773205311	missense variant	-	NC_000015.10:g.63127546A>C	ExAC,gnomAD
LACTB	P83111	p.Asn271Ser	rs762857350	missense variant	-	NC_000015.10:g.63127549A>G	ExAC,gnomAD
LACTB	P83111	p.Glu272Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63127553A>T	NCI-TCGA
LACTB	P83111	p.Ala273Val	rs1400570916	missense variant	-	NC_000015.10:g.63127555C>T	TOPMed
LACTB	P83111	p.Arg276Gln	rs201235539	missense variant	-	NC_000015.10:g.63127564G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Arg276Trp	rs774191436	missense variant	-	NC_000015.10:g.63127563C>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Asn277Tyr	rs766986822	missense variant	-	NC_000015.10:g.63127566A>T	ExAC,gnomAD
LACTB	P83111	p.Ser278Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.63127570C>G	NCI-TCGA
LACTB	P83111	p.Lys283Arg	rs1160210142	missense variant	-	NC_000015.10:g.63127585A>G	gnomAD
LACTB	P83111	p.Lys284Arg	rs572687558	missense variant	-	NC_000015.10:g.63127588A>G	1000Genomes,ExAC,gnomAD
LACTB	P83111	p.Glu288Val	rs763742169	missense variant	-	NC_000015.10:g.63127600A>T	ExAC,gnomAD
LACTB	P83111	p.Gln289His	rs1385287756	missense variant	-	NC_000015.10:g.63127604A>T	gnomAD
LACTB	P83111	p.Gln289Lys	rs750727023	missense variant	-	NC_000015.10:g.63127602C>A	ExAC,gnomAD
LACTB	P83111	p.Gly290Val	rs758783221	missense variant	-	NC_000015.10:g.63127606G>T	ExAC,gnomAD
LACTB	P83111	p.Glu291Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.63127608G>T	NCI-TCGA
LACTB	P83111	p.Glu291Lys	rs755059722	missense variant	-	NC_000015.10:g.63127608G>A	ExAC,gnomAD
LACTB	P83111	p.Glu296Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.63127623G>T	NCI-TCGA
LACTB	P83111	p.Phe298Leu	rs1486906885	missense variant	-	NC_000015.10:g.63127631T>A	TOPMed
LACTB	P83111	p.Asn300Lys	rs770071147	missense variant	-	NC_000015.10:g.63127637T>G	ExAC,gnomAD
LACTB	P83111	p.Ser301Ter	rs1357893330	stop gained	-	NC_000015.10:g.63127639C>A	gnomAD
LACTB	P83111	p.Ile302Met	COSM4916163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63127643T>G	NCI-TCGA Cosmic
LACTB	P83111	p.Ile302Val	rs142381405	missense variant	-	NC_000015.10:g.63127641A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ile302Phe	rs142381405	missense variant	-	NC_000015.10:g.63127641A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Arg306Thr	rs1183728548	missense variant	-	NC_000015.10:g.63127654G>C	gnomAD
LACTB	P83111	p.Leu307Ile	rs1249478616	missense variant	-	NC_000015.10:g.63127656T>A	gnomAD
LACTB	P83111	p.Asp311Gly	rs1225087331	missense variant	-	NC_000015.10:g.63127669A>G	TOPMed
LACTB	P83111	p.Pro312His	rs1343308021	missense variant	-	NC_000015.10:g.63127672C>A	TOPMed
LACTB	P83111	p.Lys316Ile	rs774327364	missense variant	-	NC_000015.10:g.63127684A>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Lys316Arg	rs774327364	missense variant	-	NC_000015.10:g.63127684A>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Pro317Leu	rs889186456	missense variant	-	NC_000015.10:g.63127687C>T	TOPMed,gnomAD
LACTB	P83111	p.Pro317Ser	rs771607460	missense variant	-	NC_000015.10:g.63127686C>T	ExAC,gnomAD
LACTB	P83111	p.Gly318Ala	rs199835006	missense variant	-	NC_000015.10:g.63129485G>C	1000Genomes,ExAC,gnomAD
LACTB	P83111	p.Ser319Cys	rs146546670	missense variant	-	NC_000015.10:g.63129487A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ser319Asn	rs111861955	missense variant	-	NC_000015.10:g.63129488G>A	gnomAD
LACTB	P83111	p.Ser319Arg	rs1281724293	missense variant	-	NC_000015.10:g.63129489T>A	TOPMed,gnomAD
LACTB	P83111	p.Leu322Phe	rs778114499	missense variant	-	NC_000015.10:g.63129498G>C	ExAC,gnomAD
LACTB	P83111	p.Tyr328His	rs1186944065	missense variant	-	NC_000015.10:g.63129514T>C	gnomAD
LACTB	P83111	p.Tyr328Cys	rs370595558	missense variant	-	NC_000015.10:g.63129515A>G	ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Thr329Asn	rs1166988026	missense variant	-	NC_000015.10:g.63129518C>A	gnomAD
LACTB	P83111	p.Ala332Ser	rs139183549	missense variant	-	NC_000015.10:g.63129526G>T	ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ala333Gly	rs775519108	missense variant	-	NC_000015.10:g.63129530C>G	ExAC,gnomAD
LACTB	P83111	p.Ile334Val	rs915088572	missense variant	-	NC_000015.10:g.63129532A>G	TOPMed
LACTB	P83111	p.Val335Ile	rs1261449932	missense variant	-	NC_000015.10:g.63129535G>A	gnomAD
LACTB	P83111	p.Glu336Ala	rs1400694052	missense variant	-	NC_000015.10:g.63129539A>C	gnomAD
LACTB	P83111	p.Arg337Thr	rs746480283	missense variant	-	NC_000015.10:g.63129542G>C	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Arg337Lys	rs746480283	missense variant	-	NC_000015.10:g.63129542G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ala338Thr	rs186932521	missense variant	-	NC_000015.10:g.63129544G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Tyr343Phe	rs1453297412	missense variant	-	NC_000015.10:g.63129560A>T	gnomAD
LACTB	P83111	p.Tyr346His	rs930221220	missense variant	-	NC_000015.10:g.63129568T>C	gnomAD
LACTB	P83111	p.Met347Ile	rs533248895	missense variant	-	NC_000015.10:g.63129573G>A	1000Genomes,ExAC,gnomAD
LACTB	P83111	p.Gln348Arg	rs759955286	missense variant	-	NC_000015.10:g.63129575A>G	ExAC,gnomAD
LACTB	P83111	p.Gln348Glu	rs368235977	missense variant	-	NC_000015.10:g.63129574C>G	gnomAD
LACTB	P83111	p.Gln348Ter	rs368235977	stop gained	-	NC_000015.10:g.63129574C>T	gnomAD
LACTB	P83111	p.Ile350Met	rs1199898241	missense variant	-	NC_000015.10:g.63129582A>G	gnomAD
LACTB	P83111	p.His352Arg	rs1396651361	missense variant	-	NC_000015.10:g.63129587A>G	TOPMed
LACTB	P83111	p.Thr358Met	rs756244410	missense variant	-	NC_000015.10:g.63129605C>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Val360Met	rs754109761	missense variant	-	NC_000015.10:g.63129610G>A	ExAC,gnomAD
LACTB	P83111	p.Gln361Glu	rs1454926520	missense variant	-	NC_000015.10:g.63129613C>G	TOPMed,gnomAD
LACTB	P83111	p.Gln361Ter	rs1454926520	stop gained	-	NC_000015.10:g.63129613C>T	TOPMed,gnomAD
LACTB	P83111	p.Glu362Lys	rs757488085	missense variant	-	NC_000015.10:g.63129616G>A	ExAC,gnomAD
LACTB	P83111	p.Glu363Lys	rs912011979	missense variant	-	NC_000015.10:g.63129619G>A	gnomAD
LACTB	P83111	p.Asn364Lys	rs745599979	missense variant	-	NC_000015.10:g.63129624C>G	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Asn364Asp	rs779210852	missense variant	-	NC_000015.10:g.63129622A>G	ExAC,gnomAD
LACTB	P83111	p.Glu365Lys	rs368633373	missense variant	-	NC_000015.10:g.63129625G>A	ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Pro366Ser	rs1005141365	missense variant	-	NC_000015.10:g.63129628C>T	TOPMed
LACTB	P83111	p.Val367Met	rs779823983	missense variant	-	NC_000015.10:g.63129631G>A	ExAC,gnomAD
LACTB	P83111	p.Asn370Ser	rs148264247	missense variant	-	NC_000015.10:g.63129641A>G	ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ala372Thr	COSM963666	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63129646G>A	NCI-TCGA Cosmic
LACTB	P83111	p.Tyr375Cys	rs1246443177	missense variant	-	NC_000015.10:g.63141285A>G	TOPMed
LACTB	P83111	p.Tyr375Ter	rs777272720	stop gained	-	NC_000015.10:g.63141286T>A	ExAC,gnomAD
LACTB	P83111	p.Val376Asp	rs749030611	missense variant	-	NC_000015.10:g.63141288T>A	ExAC,gnomAD
LACTB	P83111	p.Tyr377Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.63141292C>A	NCI-TCGA
LACTB	P83111	p.Lys380Asn	COSM4818334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141301G>C	NCI-TCGA Cosmic
LACTB	P83111	p.Arg382Cys	rs1216816022	missense variant	-	NC_000015.10:g.63141305C>T	TOPMed
LACTB	P83111	p.Arg382His	rs772322623	missense variant	-	NC_000015.10:g.63141306G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Thr386Arg	rs1282311705	missense variant	-	NC_000015.10:g.63141318C>G	TOPMed
LACTB	P83111	p.Pro387Ser	rs775930879	missense variant	-	NC_000015.10:g.63141320C>T	ExAC,gnomAD
LACTB	P83111	p.Pro387Arg	rs1026377051	missense variant	-	NC_000015.10:g.63141321C>G	TOPMed,gnomAD
LACTB	P83111	p.Tyr388Asn	rs1352977343	missense variant	-	NC_000015.10:g.63141323T>A	TOPMed
LACTB	P83111	p.Val389Glu	rs1238624473	missense variant	-	NC_000015.10:g.63141327T>A	TOPMed,gnomAD
LACTB	P83111	p.Val389Met	rs566925626	missense variant	-	NC_000015.10:g.63141326G>A	1000Genomes,ExAC,gnomAD
LACTB	P83111	p.Asp390His	rs777310393	missense variant	-	NC_000015.10:g.63141329G>C	ExAC,gnomAD
LACTB	P83111	p.Asn391Ile	rs1347758143	missense variant	-	NC_000015.10:g.63141333A>T	gnomAD
LACTB	P83111	p.Asn391Asp	rs761766710	missense variant	-	NC_000015.10:g.63141332A>G	ExAC,gnomAD
LACTB	P83111	p.Ser392Phe	rs1457182235	missense variant	-	NC_000015.10:g.63141336C>T	gnomAD
LACTB	P83111	p.Lys394Asn	rs765406619	missense variant	-	NC_000015.10:g.63141343A>T	ExAC,gnomAD
LACTB	P83111	p.Trp395Leu	rs750598000	missense variant	-	NC_000015.10:g.63141345G>T	ExAC,gnomAD
LACTB	P83111	p.Ala396Val	rs1365248997	missense variant	-	NC_000015.10:g.63141348C>T	TOPMed
LACTB	P83111	p.Ser402Cys	rs1287723878	missense variant	-	NC_000015.10:g.63141366C>G	TOPMed,gnomAD
LACTB	P83111	p.Thr403Ala	rs766589039	missense variant	-	NC_000015.10:g.63141368A>G	ExAC,gnomAD
LACTB	P83111	p.Val404Ala	rs1230115734	missense variant	-	NC_000015.10:g.63141372T>C	gnomAD
LACTB	P83111	p.Lys409Arg	rs1346572766	missense variant	-	NC_000015.10:g.63141387A>G	TOPMed
LACTB	P83111	p.Asn412Ser	rs1156366533	missense variant	-	NC_000015.10:g.63141396A>G	TOPMed
LACTB	P83111	p.Ala413Val	rs754787506	missense variant	-	NC_000015.10:g.63141399C>T	ExAC,gnomAD
LACTB	P83111	p.Met414Ile	rs200127857	missense variant	-	NC_000015.10:g.63141403G>C	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Met414Val	rs1418566096	missense variant	-	NC_000015.10:g.63141401A>G	TOPMed
LACTB	P83111	p.Leu415Ile	COSM963668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141404C>A	NCI-TCGA Cosmic
LACTB	P83111	p.Leu415Phe	rs752732965	missense variant	-	NC_000015.10:g.63141404C>T	ExAC,gnomAD
LACTB	P83111	p.Tyr416Ser	rs1482304544	missense variant	-	NC_000015.10:g.63141408A>C	gnomAD
LACTB	P83111	p.Gly417Cys	rs755570176	missense variant	-	NC_000015.10:g.63141410G>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gly417Asp	rs966030279	missense variant	-	NC_000015.10:g.63141411G>A	gnomAD
LACTB	P83111	p.Tyr418His	rs748753368	missense variant	-	NC_000015.10:g.63141413T>C	ExAC,gnomAD
LACTB	P83111	p.Gly421Arg	rs770651278	missense variant	-	NC_000015.10:g.63141422G>C	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Gly421Arg	rs770651278	missense variant	-	NC_000015.10:g.63141422G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Phe423LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000015.10:g.63141429_63141430insGACAAGACGTTTCTTTTTATTGTAAACA	NCI-TCGA
LACTB	P83111	p.Phe423Leu	rs778731900	missense variant	-	NC_000015.10:g.63141430T>G	ExAC,gnomAD
LACTB	P83111	p.Phe423Leu	rs1372171353	missense variant	-	NC_000015.10:g.63141428T>C	gnomAD
LACTB	P83111	p.Ser426Leu	rs1307276532	missense variant	-	NC_000015.10:g.63141438C>T	gnomAD
LACTB	P83111	p.Asn427Asp	rs747339663	missense variant	-	NC_000015.10:g.63141440A>G	ExAC,gnomAD
LACTB	P83111	p.Asn429Ser	rs1216086833	missense variant	-	NC_000015.10:g.63141447A>G	TOPMed
LACTB	P83111	p.Leu430Ile	COSM963670	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141449C>A	NCI-TCGA Cosmic
LACTB	P83111	p.Leu430Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63141450T>G	NCI-TCGA
LACTB	P83111	p.Gly433Glu	rs777253275	missense variant	-	NC_000015.10:g.63141459G>A	ExAC,gnomAD
LACTB	P83111	p.Tyr434Cys	rs1215356924	missense variant	-	NC_000015.10:g.63141462A>G	gnomAD
LACTB	P83111	p.Pro437Leu	COSM3502960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141471C>T	NCI-TCGA Cosmic
LACTB	P83111	p.Glu438Asp	rs773272640	missense variant	-	NC_000015.10:g.63141475A>C	ExAC,gnomAD
LACTB	P83111	p.Thr439Ile	rs144012110	missense variant	-	NC_000015.10:g.63141477C>T	ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Met440Val	rs1310337345	missense variant	-	NC_000015.10:g.63141479A>G	TOPMed
LACTB	P83111	p.Val441Ile	rs766535919	missense variant	-	NC_000015.10:g.63141482G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Val441Phe	rs766535919	missense variant	-	NC_000015.10:g.63141482G>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Met443Thr	rs1281616840	missense variant	-	NC_000015.10:g.63141489T>C	gnomAD
LACTB	P83111	p.Met443Leu	rs751809066	missense variant	-	NC_000015.10:g.63141488A>C	ExAC
LACTB	P83111	p.Trp444Ter	rs759306733	stop gained	-	NC_000015.10:g.63141492G>A	ExAC,gnomAD
LACTB	P83111	p.Pro448Leu	rs1208693558	missense variant	-	NC_000015.10:g.63141504C>T	gnomAD
LACTB	P83111	p.Thr450Lys	rs1214927582	missense variant	-	NC_000015.10:g.63141510C>A	TOPMed
LACTB	P83111	p.Glu451Asp	rs1482676416	missense variant	-	NC_000015.10:g.63141514G>C	gnomAD
LACTB	P83111	p.Glu451Lys	rs767361464	missense variant	-	NC_000015.10:g.63141512G>A	ExAC,gnomAD
LACTB	P83111	p.Met452Ile	rs1188799070	missense variant	-	NC_000015.10:g.63141517G>T	gnomAD
LACTB	P83111	p.Asp455Gly	rs1363719580	missense variant	-	NC_000015.10:g.63141525A>G	TOPMed
LACTB	P83111	p.Lys456Asn	rs1391635467	missense variant	-	NC_000015.10:g.63141529A>C	gnomAD
LACTB	P83111	p.Glu457Lys	COSM3794296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141530G>A	NCI-TCGA Cosmic
LACTB	P83111	p.Glu457Asp	rs1161209543	missense variant	-	NC_000015.10:g.63141532G>C	gnomAD
LACTB	P83111	p.Gly458Asp	rs1295977948	missense variant	-	NC_000015.10:g.63141534G>A	TOPMed
LACTB	P83111	p.Ala461Thr	rs756017281	missense variant	-	NC_000015.10:g.63141542G>A	ExAC,gnomAD
LACTB	P83111	p.Met462Val	rs1375553290	missense variant	-	NC_000015.10:g.63141545A>G	TOPMed
LACTB	P83111	p.Ala463Val	rs1314145412	missense variant	-	NC_000015.10:g.63141549C>T	TOPMed
LACTB	P83111	p.Gly465Asp	rs753340432	missense variant	-	NC_000015.10:g.63141555G>A	ExAC,gnomAD
LACTB	P83111	p.Gly465Cys	rs1416066398	missense variant	-	NC_000015.10:g.63141554G>T	gnomAD
LACTB	P83111	p.Gly465Val	rs753340432	missense variant	-	NC_000015.10:g.63141555G>T	ExAC,gnomAD
LACTB	P83111	p.Val466Leu	rs756859717	missense variant	-	NC_000015.10:g.63141557G>C	ExAC,gnomAD
LACTB	P83111	p.Val467Met	rs1465023956	missense variant	-	NC_000015.10:g.63141560G>A	TOPMed
LACTB	P83111	p.Glu468Gly	COSM2153270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141564A>G	NCI-TCGA Cosmic
LACTB	P83111	p.Arg469Lys	rs2729835	missense variant	-	NC_000015.10:g.63141567G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Arg469Lys	rs2729835	missense variant	-	NC_000015.10:g.63141567G>A	UniProt,dbSNP
LACTB	P83111	p.Arg469Lys	VAR_018299	missense variant	-	NC_000015.10:g.63141567G>A	UniProt
LACTB	P83111	p.Lys470Asn	rs1171636891	missense variant	-	NC_000015.10:g.63141571A>T	TOPMed
LACTB	P83111	p.Lys470Arg	rs1363318456	missense variant	-	NC_000015.10:g.63141570A>G	gnomAD
LACTB	P83111	p.Thr472Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63141576C>A	NCI-TCGA
LACTB	P83111	p.Thr472Met	rs746733829	missense variant	-	NC_000015.10:g.63141576C>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Tyr473Phe	rs1217965488	missense variant	-	NC_000015.10:g.63141579A>T	gnomAD
LACTB	P83111	p.Gly474Val	rs1441269797	missense variant	-	NC_000015.10:g.63141582G>T	gnomAD
LACTB	P83111	p.Gly474Arg	rs1278619260	missense variant	-	NC_000015.10:g.63141581G>C	gnomAD
LACTB	P83111	p.Gly474Ser	rs1278619260	missense variant	-	NC_000015.10:g.63141581G>A	gnomAD
LACTB	P83111	p.Ser475Leu	rs556545187	missense variant	-	NC_000015.10:g.63141585C>T	1000Genomes,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Cys476Phe	rs1463291764	missense variant	-	NC_000015.10:g.63141588G>T	gnomAD
LACTB	P83111	p.Cys476Arg	rs1259751471	missense variant	-	NC_000015.10:g.63141587T>C	TOPMed
LACTB	P83111	p.Gln479Arg	rs773611217	missense variant	-	NC_000015.10:g.63141597A>G	ExAC,gnomAD
LACTB	P83111	p.Arg480Trp	rs771050457	missense variant	-	NC_000015.10:g.63141599C>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Arg480Gln	rs148995972	missense variant	-	NC_000015.10:g.63141600G>A	ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Tyr482His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63141605T>C	NCI-TCGA
LACTB	P83111	p.Ala483Val	rs1276022933	missense variant	-	NC_000015.10:g.63141609C>T	TOPMed
LACTB	P83111	p.Ala483Thr	rs565191477	missense variant	-	NC_000015.10:g.63141608G>A	TOPMed,gnomAD
LACTB	P83111	p.Ser484Pro	rs767735522	missense variant	-	NC_000015.10:g.63141611T>C	ExAC,gnomAD
LACTB	P83111	p.Gly487Ala	rs1213945081	missense variant	-	NC_000015.10:g.63141621G>C	gnomAD
LACTB	P83111	p.Ala489Thr	rs200480788	missense variant	-	NC_000015.10:g.63141626G>A	ExAC,gnomAD
LACTB	P83111	p.Gly491Arg	rs367940459	missense variant	-	NC_000015.10:g.63141632G>C	ESP,ExAC,gnomAD
LACTB	P83111	p.Gly491Asp	rs764053537	missense variant	-	NC_000015.10:g.63141633G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ala492Asp	rs756804133	missense variant	-	NC_000015.10:g.63141636C>A	ExAC,gnomAD
LACTB	P83111	p.Ala492Thr	rs753760490	missense variant	-	NC_000015.10:g.63141635G>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ala492Ser	rs753760490	missense variant	-	NC_000015.10:g.63141635G>T	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ser493Asn	rs1330450786	missense variant	-	NC_000015.10:g.63141639G>A	gnomAD
LACTB	P83111	p.Ser493Arg	rs369446060	missense variant	-	NC_000015.10:g.63141640T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Glu502Asp	rs1207694084	missense variant	-	NC_000015.10:g.63141667A>C	TOPMed,gnomAD
LACTB	P83111	p.Glu502Ter	rs1326516034	stop gained	-	NC_000015.10:g.63141665G>T	gnomAD
LACTB	P83111	p.Leu503Met	rs1290225341	missense variant	-	NC_000015.10:g.63141668C>A	gnomAD
LACTB	P83111	p.Asp504Asn	rs372475477	missense variant	-	NC_000015.10:g.63141671G>A	ESP,ExAC,TOPMed,gnomAD
LACTB	P83111	p.Asp504Gly	rs1463939302	missense variant	-	NC_000015.10:g.63141672A>G	TOPMed
LACTB	P83111	p.Glu506Lys	rs778310160	missense variant	-	NC_000015.10:g.63141677G>A	ExAC,gnomAD
LACTB	P83111	p.Glu506Asp	rs770997369	missense variant	-	NC_000015.10:g.63141679G>T	ExAC,gnomAD
LACTB	P83111	p.Glu506Gln	rs778310160	missense variant	-	NC_000015.10:g.63141677G>C	ExAC,gnomAD
LACTB	P83111	p.Thr507Pro	rs377555615	missense variant	-	NC_000015.10:g.63141680A>C	1000Genomes,ExAC,gnomAD
LACTB	P83111	p.Thr507Ala	rs377555615	missense variant	-	NC_000015.10:g.63141680A>G	1000Genomes,ExAC,gnomAD
LACTB	P83111	p.Ile508Val	rs1184322607	missense variant	-	NC_000015.10:g.63141683A>G	gnomAD
LACTB	P83111	p.Asn509His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63141686A>C	NCI-TCGA
LACTB	P83111	p.Lys511Asn	rs1163985910	missense variant	-	NC_000015.10:g.63141694G>C	gnomAD
LACTB	P83111	p.Lys511Thr	rs1456842586	missense variant	-	NC_000015.10:g.63141693A>C	gnomAD
LACTB	P83111	p.Val512Ile	rs1040866866	missense variant	-	NC_000015.10:g.63141695G>A	TOPMed,gnomAD
LACTB	P83111	p.Val512Leu	rs1040866866	missense variant	-	NC_000015.10:g.63141695G>C	TOPMed,gnomAD
LACTB	P83111	p.Pro514Thr	rs775607481	missense variant	-	NC_000015.10:g.63141701C>A	ExAC,gnomAD
LACTB	P83111	p.Pro514GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.63141698C>-	NCI-TCGA
LACTB	P83111	p.Pro514Gln	rs760488771	missense variant	-	NC_000015.10:g.63141702C>A	ExAC,gnomAD
LACTB	P83111	p.Val519Ala	COSM434119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141717T>C	NCI-TCGA Cosmic
LACTB	P83111	p.Val519Ile	rs1185596927	missense variant	-	NC_000015.10:g.63141716G>A	TOPMed
LACTB	P83111	p.Val519Leu	rs1185596927	missense variant	-	NC_000015.10:g.63141716G>C	TOPMed
LACTB	P83111	p.Ser520Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63141720C>G	NCI-TCGA
LACTB	P83111	p.Ser520Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.63141720C>T	NCI-TCGA
LACTB	P83111	p.Ile522Val	rs1287065271	missense variant	-	NC_000015.10:g.63141725A>G	TOPMed,gnomAD
LACTB	P83111	p.Gln526Lys	rs761908040	missense variant	-	NC_000015.10:g.63141737C>A	ExAC,TOPMed,gnomAD
LACTB	P83111	p.Ser527Phe	rs1358070384	missense variant	-	NC_000015.10:g.63141741C>T	gnomAD
LACTB	P83111	p.Leu530Phe	rs749890606	missense variant	-	NC_000015.10:g.63141749C>T	ExAC,gnomAD
LACTB	P83111	p.Ser532Cys	rs1483294303	missense variant	-	NC_000015.10:g.63141755A>T	gnomAD
LACTB	P83111	p.Ser532Gly	rs1483294303	missense variant	-	NC_000015.10:g.63141755A>G	gnomAD
LACTB	P83111	p.Leu535Val	rs991619952	missense variant	-	NC_000015.10:g.63141764T>G	TOPMed
LACTB	P83111	p.Lys536Met	COSM4056101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141768A>T	NCI-TCGA Cosmic
LACTB	P83111	p.Asp542His	COSM700769	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.63141785G>C	NCI-TCGA Cosmic
LACTB	P83111	p.Arg545Ser	rs1471914250	missense variant	-	NC_000015.10:g.63141796A>T	gnomAD
LACTB	P83111	p.Arg545Ile	rs1370376699	missense variant	-	NC_000015.10:g.63141795G>T	gnomAD
LACTB	P83111	p.Ser546Ter	rs1242081508	stop gained	-	NC_000015.10:g.63141798C>G	TOPMed
LACTB	P83111	p.Asp547Asn	rs1024403619	missense variant	-	NC_000015.10:g.63141800G>A	TOPMed
LACTB	P83111	p.Asp547Gly	rs766012269	missense variant	-	NC_000015.10:g.63141801A>G	ExAC,gnomAD
EFNB1	P98172	p.Ala2Pro	rs1301370944	missense variant	-	NC_000023.11:g.68829780G>C	TOPMed,gnomAD
EFNB1	P98172	p.Ala2Thr	rs1301370944	missense variant	-	NC_000023.11:g.68829780G>A	TOPMed,gnomAD
EFNB1	P98172	p.Ala2Val	rs748401151	missense variant	-	NC_000023.11:g.68829781C>T	ExAC,gnomAD
EFNB1	P98172	p.Arg3Trp	rs772228172	missense variant	-	NC_000023.11:g.68829783C>T	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Arg3Pro	rs373904459	missense variant	-	NC_000023.11:g.68829784G>C	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Pro4Ser	rs925572507	missense variant	-	NC_000023.11:g.68829786C>T	TOPMed,gnomAD
EFNB1	P98172	p.Arg7His	rs866037171	missense variant	-	NC_000023.11:g.68829796G>A	TOPMed,gnomAD
EFNB1	P98172	p.Arg7Leu	rs866037171	missense variant	-	NC_000023.11:g.68829796G>T	TOPMed,gnomAD
EFNB1	P98172	p.Arg7Cys	rs1317038004	missense variant	-	NC_000023.11:g.68829795C>T	gnomAD
EFNB1	P98172	p.Gly10Ala	rs866889834	missense variant	-	NC_000023.11:g.68829805G>C	gnomAD
EFNB1	P98172	p.Gly10Asp	rs866889834	missense variant	-	NC_000023.11:g.68829805G>A	gnomAD
EFNB1	P98172	p.Trp12Ter	rs1482772814	stop gained	-	NC_000023.11:g.68829811G>A	gnomAD
EFNB1	P98172	p.Val14Leu	rs760050554	missense variant	-	NC_000023.11:g.68829816G>T	ExAC,gnomAD
EFNB1	P98172	p.Trp19Ter	rs1181430849	stop gained	-	NC_000023.11:g.68829833G>A	gnomAD
EFNB1	P98172	p.Ala20Val	NCI-TCGA novel	missense variant	-	chrX:g.68829835C>T	NCI-TCGA
EFNB1	P98172	p.Ala20Ser	rs763647626	missense variant	-	NC_000023.11:g.68829834G>T	ExAC,gnomAD
EFNB1	P98172	p.Arg23Gly	rs1174138217	missense variant	-	NC_000023.11:g.68829843C>G	gnomAD
EFNB1	P98172	p.Leu24Phe	rs759194644	missense variant	-	NC_000023.11:g.68829846C>T	1000Genomes,ExAC,gnomAD
EFNB1	P98172	p.Ala25Pro	rs1315222017	missense variant	-	NC_000023.11:g.68829849G>C	gnomAD
EFNB1	P98172	p.Pro27Arg	VAR_023127	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Ala29Ter	RCV000340660	frameshift	-	NC_000023.11:g.68829861dup	ClinVar
EFNB1	P98172	p.Ala29Ser	rs767027730	missense variant	-	NC_000023.11:g.68829861G>T	ExAC,gnomAD
EFNB1	P98172	p.Glu33Asp	rs750127847	missense variant	-	NC_000023.11:g.68829875G>T	ExAC,gnomAD
EFNB1	P98172	p.Pro34Ser	rs1373344087	missense variant	-	NC_000023.11:g.68829876C>T	gnomAD
EFNB1	P98172	p.Val35Ile	rs1044255052	missense variant	-	NC_000023.11:g.68829879G>A	gnomAD
EFNB1	P98172	p.Trp37Ter	RCV000012480	nonsense	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68829886G>A	ClinVar
EFNB1	P98172	p.Trp37Gly	RCV000012479	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68829885T>G	ClinVar
EFNB1	P98172	p.Trp37Gly	rs104894802	missense variant	-	NC_000023.11:g.68829885T>G	-
EFNB1	P98172	p.Trp37Ter	rs104894803	stop gained	-	NC_000023.11:g.68829886G>A	-
EFNB1	P98172	p.Ser39Ter	RCV000224501	frameshift	-	NC_000023.11:g.68829877_68829890dup	ClinVar
EFNB1	P98172	p.Ser39Tyr	rs1311286566	missense variant	-	NC_000023.11:g.68829892C>A	gnomAD
EFNB1	P98172	p.Leu40Phe	rs1281054425	missense variant	-	NC_000023.11:g.68829894C>T	TOPMed
EFNB1	P98172	p.Lys43Asn	rs1375248219	missense variant	-	NC_000023.11:g.68838617G>T	gnomAD
EFNB1	P98172	p.Phe44Ser	rs1556105849	missense variant	-	NC_000023.11:g.68838619T>C	-
EFNB1	P98172	p.Phe44Ser	RCV000503680	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838619T>C	ClinVar
EFNB1	P98172	p.Lys48Ter	RCV000622395	nonsense	Inborn genetic diseases	NC_000023.11:g.68838630A>T	ClinVar
EFNB1	P98172	p.Lys48Ter	rs1556105875	stop gained	-	NC_000023.11:g.68838630A>T	-
EFNB1	P98172	p.Pro54Leu	rs104894801	missense variant	-	chrX:g.68838649C>T	NCI-TCGA,NCI-TCGA Cosmic
EFNB1	P98172	p.Pro54Leu	RCV000012474	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838649C>T	ClinVar
EFNB1	P98172	p.Pro54Arg	RCV000523021	missense variant	-	NC_000023.11:g.68838649C>G	ClinVar
EFNB1	P98172	p.Pro54Leu	RCV000478350	missense variant	-	NC_000023.11:g.68838649C>T	ClinVar
EFNB1	P98172	p.Pro54Leu	rs104894801	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68838649C>T	UniProt,dbSNP
EFNB1	P98172	p.Pro54Leu	VAR_023128	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68838649C>T	UniProt
EFNB1	P98172	p.Pro54Leu	rs104894801	missense variant	-	NC_000023.11:g.68838649C>T	ExAC
EFNB1	P98172	p.Pro54Arg	rs104894801	missense variant	-	NC_000023.11:g.68838649C>G	ExAC
EFNB1	P98172	p.Pro54Gln	rs104894801	missense variant	-	NC_000023.11:g.68838649C>A	ExAC
EFNB1	P98172	p.Lys55Arg	rs771228253	missense variant	-	NC_000023.11:g.68838652A>G	ExAC,gnomAD
EFNB1	P98172	p.Lys59Gln	RCV000193305	missense variant	-	NC_000023.11:g.68838663A>C	ClinVar
EFNB1	P98172	p.Lys59Gln	rs797045549	missense variant	-	NC_000023.11:g.68838663A>C	-
EFNB1	P98172	p.Ile62Thr	VAR_023129	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Arg66Gln	rs748103349	missense variant	-	chrX:g.68838685G>A	NCI-TCGA
EFNB1	P98172	p.Arg66Ter	RCV000012481	nonsense	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838684C>T	ClinVar
EFNB1	P98172	p.Arg66Ter	RCV000224877	nonsense	-	NC_000023.11:g.68838684C>T	ClinVar
EFNB1	P98172	p.Arg66Ter	rs104894804	stop gained	-	NC_000023.11:g.68838684C>T	-
EFNB1	P98172	p.Arg66Gln	rs748103349	missense variant	-	NC_000023.11:g.68838685G>A	1000Genomes,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Glu68Lys	NCI-TCGA novel	missense variant	-	chrX:g.68838690G>A	NCI-TCGA
EFNB1	P98172	p.Ala69Val	rs776085390	missense variant	-	NC_000023.11:g.68838694C>T	ExAC,gnomAD
EFNB1	P98172	p.Ala69Thr	rs765712163	missense variant	-	NC_000023.11:g.68838693G>A	ExAC,gnomAD
EFNB1	P98172	p.Arg71Trp	rs367996552	missense variant	-	chrX:g.68838699C>T	NCI-TCGA,NCI-TCGA Cosmic
EFNB1	P98172	p.Arg71Gln	rs767055938	missense variant	-	chrX:g.68838700G>A	NCI-TCGA
EFNB1	P98172	p.Arg71Trp	rs367996552	missense variant	-	NC_000023.11:g.68838699C>T	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Arg71Gln	rs767055938	missense variant	-	NC_000023.11:g.68838700G>A	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Pro72His	COSM757757	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68838703C>A	NCI-TCGA Cosmic
EFNB1	P98172	p.Tyr73Ter	RCV000326061	nonsense	-	NC_000023.11:g.68838707T>G	ClinVar
EFNB1	P98172	p.Tyr73Ter	rs886041800	stop gained	-	NC_000023.11:g.68838707T>G	-
EFNB1	P98172	p.Leu78Val	rs1195726156	missense variant	-	NC_000023.11:g.68838720C>G	gnomAD
EFNB1	P98172	p.Arg82Trp	rs1187504267	missense variant	-	NC_000023.11:g.68838732C>T	gnomAD
EFNB1	P98172	p.Arg82Gln	rs370637906	missense variant	-	NC_000023.11:g.68838733G>A	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Arg82Pro	NCI-TCGA novel	missense variant	-	chrX:g.68838733G>C	NCI-TCGA
EFNB1	P98172	p.Ala87Val	NCI-TCGA novel	missense variant	-	chrX:g.68838748C>T	NCI-TCGA
EFNB1	P98172	p.Ala88Thr	rs143648191	missense variant	-	NC_000023.11:g.68838750G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Thr91Pro	RCV000415505	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838759A>C	ClinVar
EFNB1	P98172	p.Thr91Pro	rs1057519032	missense variant	-	NC_000023.11:g.68838759A>C	-
EFNB1	P98172	p.Val92Ile	rs1164769308	missense variant	-	NC_000023.11:g.68838762G>A	gnomAD
EFNB1	P98172	p.Leu93Val	rs1245010559	missense variant	-	NC_000023.11:g.68838765C>G	TOPMed
EFNB1	P98172	p.Leu93Ile	NCI-TCGA novel	missense variant	-	chrX:g.68838765C>A	NCI-TCGA
EFNB1	P98172	p.Asp94Asn	rs778669520	missense variant	-	chrX:g.68838768G>A	NCI-TCGA
EFNB1	P98172	p.Asp94Asn	rs778669520	missense variant	-	NC_000023.11:g.68838768G>A	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Asn96Lys	rs1362605865	missense variant	-	NC_000023.11:g.68838776C>A	gnomAD
EFNB1	P98172	p.Val97Met	COSM4680340	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68838777G>A	NCI-TCGA Cosmic
EFNB1	P98172	p.Leu98Ser	VAR_023130	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Val99Ala	NCI-TCGA novel	missense variant	-	chrX:g.68838784T>C	NCI-TCGA
EFNB1	P98172	p.Val99Ile	rs758345370	missense variant	-	NC_000023.11:g.68838783G>A	ExAC,gnomAD
EFNB1	P98172	p.Pro104Gln	NCI-TCGA novel	missense variant	-	chrX:g.68838799C>A	NCI-TCGA
EFNB1	P98172	p.Ile108Leu	rs978792532	missense variant	-	NC_000023.11:g.68838810A>C	TOPMed
EFNB1	P98172	p.Arg109Cys	COSM3786766	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68838813C>T	NCI-TCGA Cosmic
EFNB1	P98172	p.Arg109Gly	rs1556106222	missense variant	-	NC_000023.11:g.68838813C>G	-
EFNB1	P98172	p.Arg109His	rs747219481	missense variant	-	NC_000023.11:g.68838814G>A	ExAC,gnomAD
EFNB1	P98172	p.Arg109Gly	RCV000622267	missense variant	Inborn genetic diseases	NC_000023.11:g.68838813C>G	ClinVar
EFNB1	P98172	p.Phe110Leu	rs1266806148	missense variant	-	NC_000023.11:g.68838816T>C	TOPMed,gnomAD
EFNB1	P98172	p.Thr111Ile	RCV000012473	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68838820C>T	ClinVar
EFNB1	P98172	p.Thr111Ile	rs104894796	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68838820C>T	UniProt,dbSNP
EFNB1	P98172	p.Thr111Ile	VAR_023131	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68838820C>T	UniProt
EFNB1	P98172	p.Thr111Ile	rs104894796	missense variant	-	NC_000023.11:g.68838820C>T	-
EFNB1	P98172	p.Gln115Pro	VAR_023132	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Pro119His	VAR_023133	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Pro119Thr	VAR_023135	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Pro119Ser	VAR_023134	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Met122Thr	RCV000519575	missense variant	-	NC_000023.11:g.68838853T>C	ClinVar
EFNB1	P98172	p.Met122Thr	rs1556106318	missense variant	-	NC_000023.11:g.68838853T>C	-
EFNB1	P98172	p.His130Arg	rs1244183650	missense variant	-	NC_000023.11:g.68838877A>G	TOPMed,gnomAD
EFNB1	P98172	p.Asp131Asn	rs770225645	missense variant	-	NC_000023.11:g.68838879G>A	ExAC,gnomAD
EFNB1	P98172	p.Tyr133Ter	NCI-TCGA novel	stop gained	-	chrX:g.68838887C>A	NCI-TCGA
EFNB1	P98172	p.Ser136Leu	RCV000415481	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839664C>T	ClinVar
EFNB1	P98172	p.Ser136Leu	rs1057519033	missense variant	-	NC_000023.11:g.68839664C>T	-
EFNB1	P98172	p.Thr137Ala	VAR_023136	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Ser138Phe	VAR_023137	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Asn139Ile	rs148094474	missense variant	-	NC_000023.11:g.68839673A>T	ESP,ExAC,gnomAD
EFNB1	P98172	p.Asn139Ser	rs148094474	missense variant	-	NC_000023.11:g.68839673A>G	ESP,ExAC,gnomAD
EFNB1	P98172	p.Ser141Thr	rs142430452	missense variant	-	NC_000023.11:g.68839679G>C	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Leu142Pro	rs748061613	missense variant	-	NC_000023.11:g.68839682T>C	1000Genomes,ExAC,gnomAD
EFNB1	P98172	p.Glu146Lys	COSM3562907	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839693G>A	NCI-TCGA Cosmic
EFNB1	P98172	p.Arg148Gln	COSM1124293	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839700G>A	NCI-TCGA Cosmic
EFNB1	P98172	p.Arg148Trp	rs780521355	missense variant	-	NC_000023.11:g.68839699C>T	ExAC,gnomAD
EFNB1	P98172	p.Gly150Asp	rs1281462803	missense variant	-	NC_000023.11:g.68839706G>A	gnomAD
EFNB1	P98172	p.Gly151Val	RCV000012476	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839709G>T	ClinVar
EFNB1	P98172	p.Gly151Ser	rs28936069	missense variant	-	chrX:g.68839708G>A	NCI-TCGA
EFNB1	P98172	p.Gly151Ser	RCV000012475	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839708G>A	ClinVar
EFNB1	P98172	p.Gly151Ser	rs28936069	missense variant	-	NC_000023.11:g.68839708G>A	-
EFNB1	P98172	p.Gly151Val	rs28936070	missense variant	-	NC_000023.11:g.68839709G>T	-
EFNB1	P98172	p.Cys153Ser	VAR_023140	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Cys153Tyr	VAR_023141	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Arg154His	rs146636295	missense variant	-	NC_000023.11:g.68839718G>A	UniProt,dbSNP
EFNB1	P98172	p.Arg154His	VAR_023142	missense variant	-	NC_000023.11:g.68839718G>A	UniProt
EFNB1	P98172	p.Arg154His	rs146636295	missense variant	-	NC_000023.11:g.68839718G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Arg154Cys	NCI-TCGA novel	missense variant	-	chrX:g.68839717C>T	NCI-TCGA
EFNB1	P98172	p.Thr155Arg	COSM1124294	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839721C>G	NCI-TCGA Cosmic
EFNB1	P98172	p.Thr155Ser	rs931712091	missense variant	-	NC_000023.11:g.68839720A>T	TOPMed
EFNB1	P98172	p.Thr155Pro	VAR_023143	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Arg156Pro	NCI-TCGA novel	missense variant	-	chrX:g.68839724G>C	NCI-TCGA
EFNB1	P98172	p.Arg156Cys	RCV000415493	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839723C>T	ClinVar
EFNB1	P98172	p.Arg156Ser	COSM6119275	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839723C>A	NCI-TCGA Cosmic
EFNB1	P98172	p.Arg156His	COSM1331734	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68839724G>A	NCI-TCGA Cosmic
EFNB1	P98172	p.Arg156Cys	rs1057519034	missense variant	-	NC_000023.11:g.68839723C>T	gnomAD
EFNB1	P98172	p.Met158Ile	RCV000012478	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839731G>T	ClinVar
EFNB1	P98172	p.Met158Val	RCV000012477	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839729A>G	ClinVar
EFNB1	P98172	p.Met158Leu	rs28936071	missense variant	-	NC_000023.11:g.68839729A>C	TOPMed
EFNB1	P98172	p.Met158Ile	rs28935170	missense variant	-	NC_000023.11:g.68839731G>T	-
EFNB1	P98172	p.Met158Ile	rs28935170	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68839731G>T	UniProt,dbSNP
EFNB1	P98172	p.Met158Ile	VAR_023144	missense variant	Craniofrontonasal syndrome (CFNS)	NC_000023.11:g.68839731G>T	UniProt
EFNB1	P98172	p.Met158Val	rs28936071	missense variant	-	NC_000023.11:g.68839729A>G	TOPMed
EFNB1	P98172	p.Lys159Arg	rs772828931	missense variant	-	NC_000023.11:g.68839733A>G	ExAC,gnomAD
EFNB1	P98172	p.Ile160Val	rs1436665759	missense variant	-	NC_000023.11:g.68839735A>G	gnomAD
EFNB1	P98172	p.Gln166Ter	RCV000087027	nonsense	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839753C>T	ClinVar
EFNB1	P98172	p.Gln166Ter	rs587777109	stop gained	-	NC_000023.11:g.68839753C>T	-
EFNB1	P98172	p.Asn169Ser	rs959897469	missense variant	-	NC_000023.11:g.68839966A>G	TOPMed
EFNB1	P98172	p.Asn169His	rs1274482805	missense variant	-	NC_000023.11:g.68839965A>C	gnomAD
EFNB1	P98172	p.Ala170Val	RCV000444789	missense variant	-	NC_000023.11:g.68839969C>T	ClinVar
EFNB1	P98172	p.Ala170Val	rs147599832	missense variant	-	NC_000023.11:g.68839969C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Val171Leu	rs779526112	missense variant	-	NC_000023.11:g.68839971G>C	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Val171Met	rs779526112	missense variant	-	NC_000023.11:g.68839971G>A	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Thr172Met	rs7889678	missense variant	-	NC_000023.11:g.68839975C>T	ExAC,gnomAD
EFNB1	P98172	p.Gln175Ter	rs1556107856	stop gained	-	NC_000023.11:g.68839983C>T	-
EFNB1	P98172	p.Gln175Ter	RCV000502264	nonsense	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68839983C>T	ClinVar
EFNB1	P98172	p.Leu176Val	rs762345929	missense variant	-	NC_000023.11:g.68839986C>G	1000Genomes,ExAC,gnomAD
EFNB1	P98172	p.Arg180Ser	rs143162125	missense variant	-	NC_000023.11:g.68840000G>T	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Ser182Gly	rs767884649	missense variant	-	NC_000023.11:g.68840004A>G	1000Genomes,ExAC,gnomAD
EFNB1	P98172	p.Ser182Arg	NCI-TCGA novel	missense variant	-	chrX:g.68840006C>A	NCI-TCGA
EFNB1	P98172	p.Ser182Arg	VAR_023146	Missense	Craniofrontonasal syndrome (CFNS) [MIM:304110]	-	UniProt
EFNB1	P98172	p.Lys183Asn	rs762694943	missense variant	-	NC_000023.11:g.68840009G>T	ExAC,gnomAD
EFNB1	P98172	p.Asn187Ter	RCV000415511	frameshift	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68840021del	ClinVar
EFNB1	P98172	p.Asn187Ser	rs763881049	missense variant	-	NC_000023.11:g.68840020A>G	ExAC,gnomAD
EFNB1	P98172	p.Val189Ala	RCV000415485	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68840026T>C	ClinVar
EFNB1	P98172	p.Val189Ile	rs150883256	missense variant	-	NC_000023.11:g.68840025G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Val189Ala	rs16989105	missense variant	-	NC_000023.11:g.68840026T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Ala192Val	COSM280736	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840035C>T	NCI-TCGA Cosmic
EFNB1	P98172	p.Thr193Ile	rs1486924849	missense variant	-	NC_000023.11:g.68840038C>T	TOPMed
EFNB1	P98172	p.Ala195Ser	COSM757754	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840043G>T	NCI-TCGA Cosmic
EFNB1	P98172	p.Ala195Asp	rs974195266	missense variant	-	NC_000023.11:g.68840044C>A	TOPMed
EFNB1	P98172	p.Arg199Trp	rs546056194	missense variant	-	chrX:g.68840055C>T	NCI-TCGA,NCI-TCGA Cosmic
EFNB1	P98172	p.Arg199Trp	rs546056194	missense variant	-	NC_000023.11:g.68840055C>T	TOPMed,gnomAD
EFNB1	P98172	p.Arg199Gln	rs1295277661	missense variant	-	NC_000023.11:g.68840056G>A	gnomAD
EFNB1	P98172	p.Gly200Ser	rs1230258197	missense variant	-	NC_000023.11:g.68840058G>A	gnomAD
EFNB1	P98172	p.Gly200Ala	rs149648624	missense variant	-	NC_000023.11:g.68840059G>C	ESP
EFNB1	P98172	p.Leu202TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.68840062C>-	NCI-TCGA
EFNB1	P98172	p.Gly203Val	rs766918704	missense variant	-	NC_000023.11:g.68840068G>T	1000Genomes,ExAC,gnomAD
EFNB1	P98172	p.Asp206His	rs756265628	missense variant	-	NC_000023.11:g.68840076G>C	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Asp206Gly	rs1225271532	missense variant	-	NC_000023.11:g.68840077A>G	TOPMed
EFNB1	P98172	p.Gly207Ser	rs754048678	missense variant	-	NC_000023.11:g.68840079G>A	1000Genomes,ExAC
EFNB1	P98172	p.Gly207Asp	NCI-TCGA novel	missense variant	-	chrX:g.68840080G>A	NCI-TCGA
EFNB1	P98172	p.Gln214Ter	RCV000760830	nonsense	-	NC_000023.11:g.68840253C>T	ClinVar
EFNB1	P98172	p.Glu215Lys	rs768426785	missense variant	-	NC_000023.11:g.68840256G>A	ExAC
EFNB1	P98172	p.Gly221Val	rs772092082	missense variant	-	NC_000023.11:g.68840275G>T	ExAC
EFNB1	P98172	p.Ala222Val	rs1332721196	missense variant	-	NC_000023.11:g.68840278C>T	gnomAD
EFNB1	P98172	p.Gly224Arg	rs1287553334	missense variant	-	NC_000023.11:g.68840283G>C	TOPMed
EFNB1	P98172	p.Gly228Arg	rs766378296	missense variant	-	NC_000023.11:g.68840295G>A	ExAC,gnomAD
EFNB1	P98172	p.Asp229Tyr	rs139138728	missense variant	-	NC_000023.11:g.68840298G>T	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Asp229ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.68840295G>-	NCI-TCGA
EFNB1	P98172	p.Pro230Leu	COSM1315642	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840302C>T	NCI-TCGA Cosmic
EFNB1	P98172	p.Pro230Ala	rs1236422765	missense variant	-	NC_000023.11:g.68840301C>G	gnomAD
EFNB1	P98172	p.Asp231Asn	rs1259786723	missense variant	-	NC_000023.11:g.68840304G>A	gnomAD
EFNB1	P98172	p.Gly232Asp	rs1291294998	missense variant	-	NC_000023.11:g.68840308G>A	TOPMed
EFNB1	P98172	p.Phe233Leu	NCI-TCGA novel	missense variant	-	chrX:g.68840312C>A	NCI-TCGA
EFNB1	P98172	p.Asn235Thr	rs369393911	missense variant	-	NC_000023.11:g.68840317A>C	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Ser236CysPheSerTerUnkUnk	COSM1469019	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.68840320_68840327CCAAGGTG>-	NCI-TCGA Cosmic
EFNB1	P98172	p.Ser236Ala	rs753155032	missense variant	-	NC_000023.11:g.68840319T>G	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Val238Leu	rs1485291517	missense variant	-	NC_000023.11:g.68840325G>T	gnomAD
EFNB1	P98172	p.Ala239Thr	rs758811344	missense variant	-	NC_000023.11:g.68840328G>A	ExAC
EFNB1	P98172	p.Phe241Leu	rs778301964	missense variant	-	NC_000023.11:g.68840336C>G	ExAC,gnomAD
EFNB1	P98172	p.Ala242Ser	rs755591908	missense variant	-	NC_000023.11:g.68840337G>T	ExAC,TOPMed
EFNB1	P98172	p.Ala242Thr	rs755591908	missense variant	-	chrX:g.68840337G>A	NCI-TCGA,NCI-TCGA Cosmic
EFNB1	P98172	p.Ala242Thr	rs755591908	missense variant	-	NC_000023.11:g.68840337G>A	ExAC,TOPMed
EFNB1	P98172	p.Ala242Val	rs779487954	missense variant	-	NC_000023.11:g.68840338C>T	ExAC,gnomAD
EFNB1	P98172	p.Ala243Thr	rs201249059	missense variant	-	NC_000023.11:g.68840340G>A	gnomAD
EFNB1	P98172	p.Val244Gly	rs768333182	missense variant	-	NC_000023.11:g.68840344T>G	ExAC,gnomAD
EFNB1	P98172	p.Ala246Val	NCI-TCGA novel	missense variant	-	chrX:g.68840350C>T	NCI-TCGA
EFNB1	P98172	p.Gly247Ser	NCI-TCGA novel	missense variant	-	chrX:g.68840352G>A	NCI-TCGA
EFNB1	P98172	p.Gly247Ser	rs1415919196	missense variant	-	NC_000023.11:g.68840352G>A	gnomAD
EFNB1	P98172	p.Cys248Arg	rs1463282981	missense variant	-	NC_000023.11:g.68840355T>C	TOPMed
EFNB1	P98172	p.Val249Leu	rs369662868	missense variant	-	NC_000023.11:g.68840358G>C	ESP,ExAC,gnomAD
EFNB1	P98172	p.Val249Ile	rs369662868	missense variant	-	NC_000023.11:g.68840358G>A	ESP,ExAC,gnomAD
EFNB1	P98172	p.Val249Phe	rs369662868	missense variant	-	NC_000023.11:g.68840358G>T	ESP,ExAC,gnomAD
EFNB1	P98172	p.Ile250Ser	RCV000785111	missense variant	Craniofrontonasal dysplasia (CFNS)	NC_000023.11:g.68840362T>G	ClinVar
EFNB1	P98172	p.Ile250Val	rs1389189354	missense variant	-	NC_000023.11:g.68840361A>G	TOPMed,gnomAD
EFNB1	P98172	p.Ile250Met	rs1305787789	missense variant	-	NC_000023.11:g.68840363C>G	gnomAD
EFNB1	P98172	p.Leu252Val	NCI-TCGA novel	insertion	-	chrX:g.68840369_68840370insGTT	NCI-TCGA
EFNB1	P98172	p.Leu253His	NCI-TCGA novel	missense variant	-	chrX:g.68840371T>A	NCI-TCGA
EFNB1	P98172	p.Ile254Met	rs752991896	missense variant	-	NC_000023.11:g.68840375C>G	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Ile254Val	rs765607277	missense variant	-	NC_000023.11:g.68840373A>G	ExAC,gnomAD
EFNB1	P98172	p.Ile254Thr	rs1211427569	missense variant	-	NC_000023.11:g.68840374T>C	TOPMed,gnomAD
EFNB1	P98172	p.Phe257Leu	rs1463319199	missense variant	-	NC_000023.11:g.68840382T>C	TOPMed
EFNB1	P98172	p.Thr259Met	COSM1124297	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840389C>T	NCI-TCGA Cosmic
EFNB1	P98172	p.Thr259Met	rs1251392015	missense variant	-	NC_000023.11:g.68840389C>T	gnomAD
EFNB1	P98172	p.Val260Phe	NCI-TCGA novel	missense variant	-	chrX:g.68840391G>T	NCI-TCGA
EFNB1	P98172	p.Leu263Pro	rs752091564	missense variant	-	NC_000023.11:g.68840401T>C	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Lys264Ter	COSM1497352	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.68840403A>T	NCI-TCGA Cosmic
EFNB1	P98172	p.Lys264Arg	rs779503158	missense variant	-	NC_000023.11:g.68840404A>G	ExAC,gnomAD
EFNB1	P98172	p.Arg266Cys	rs754504608	missense variant	-	chrX:g.68840409C>T	NCI-TCGA,NCI-TCGA Cosmic
EFNB1	P98172	p.Arg266Cys	rs754504608	missense variant	-	NC_000023.11:g.68840409C>T	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Arg266His	rs1459990098	missense variant	-	NC_000023.11:g.68840410G>A	TOPMed,gnomAD
EFNB1	P98172	p.Arg268Trp	rs778499542	missense variant	-	NC_000023.11:g.68840415C>T	ExAC,gnomAD
EFNB1	P98172	p.Arg268Gln	rs747763749	missense variant	-	NC_000023.11:g.68840416G>A	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.His269Tyr	rs771846578	missense variant	-	NC_000023.11:g.68840418C>T	ExAC,gnomAD
EFNB1	P98172	p.Arg270Cys	rs777491240	missense variant	-	NC_000023.11:g.68840421C>T	ExAC,gnomAD
EFNB1	P98172	p.Arg270His	rs1234782645	missense variant	-	NC_000023.11:g.68840422G>A	TOPMed,gnomAD
EFNB1	P98172	p.Arg270His	NCI-TCGA novel	missense variant	-	chrX:g.68840422G>A	NCI-TCGA
EFNB1	P98172	p.Lys271Thr	rs1282336664	missense variant	-	NC_000023.11:g.68840425A>C	gnomAD
EFNB1	P98172	p.Thr273Arg	rs770815723	missense variant	-	NC_000023.11:g.68840431C>G	ExAC,gnomAD
EFNB1	P98172	p.Gln274Arg	rs1481695723	missense variant	-	NC_000023.11:g.68840434A>G	gnomAD
EFNB1	P98172	p.Arg276Gln	rs139877825	missense variant	-	NC_000023.11:g.68840440G>A	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Arg276Trp	rs1013245198	missense variant	-	NC_000023.11:g.68840439C>T	TOPMed,gnomAD
EFNB1	P98172	p.Ala277Val	rs758554867	missense variant	-	chrX:g.68840443C>T	NCI-TCGA
EFNB1	P98172	p.Ala277Val	rs758554867	missense variant	-	NC_000023.11:g.68840443C>T	1000Genomes,ExAC,gnomAD
EFNB1	P98172	p.Ser281Leu	rs1171813858	missense variant	-	NC_000023.11:g.68840455C>T	gnomAD
EFNB1	P98172	p.Ser287Asn	rs1375281574	missense variant	-	NC_000023.11:g.68840473G>A	TOPMed
EFNB1	P98172	p.Pro288Leu	COSM3562908	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840476C>T	NCI-TCGA Cosmic
EFNB1	P98172	p.Gly290Arg	rs778402835	missense variant	-	NC_000023.11:g.68840481G>A	ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Gly291AlaPheSerTerUnkUnk	COSM1469020	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.68840480G>-	NCI-TCGA Cosmic
EFNB1	P98172	p.Gly291Asp	rs1305180253	missense variant	-	NC_000023.11:g.68840485G>A	gnomAD
EFNB1	P98172	p.Gly291Ser	rs1447065742	missense variant	-	NC_000023.11:g.68840484G>A	TOPMed
EFNB1	P98172	p.Ser292GlnPheSerTerUnkUnk	COSM1181095	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.68840479_68840480insG	NCI-TCGA Cosmic
EFNB1	P98172	p.Ser292Asn	rs1376430043	missense variant	-	NC_000023.11:g.68840488G>A	TOPMed,gnomAD
EFNB1	P98172	p.Thr294Arg	rs1393321263	missense variant	-	NC_000023.11:g.68840494C>G	TOPMed,gnomAD
EFNB1	P98172	p.Thr294Ala	rs376456176	missense variant	-	NC_000023.11:g.68840493A>G	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Thr294Ile	rs1393321263	missense variant	-	NC_000023.11:g.68840494C>T	TOPMed,gnomAD
EFNB1	P98172	p.Ala295Thr	NCI-TCGA novel	missense variant	-	chrX:g.68840496G>A	NCI-TCGA
EFNB1	P98172	p.Ala295Val	rs369967894	missense variant	-	NC_000023.11:g.68840497C>T	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Thr297Ile	rs1252934182	missense variant	-	NC_000023.11:g.68840503C>T	TOPMed
EFNB1	P98172	p.Glu298Lys	NCI-TCGA novel	missense variant	-	chrX:g.68840505G>A	NCI-TCGA
EFNB1	P98172	p.Ser300Gly	rs1296210840	missense variant	-	NC_000023.11:g.68840511A>G	TOPMed,gnomAD
EFNB1	P98172	p.Ile303Val	rs1211924515	missense variant	-	NC_000023.11:g.68840520A>G	gnomAD
EFNB1	P98172	p.Ile304Val	rs1272736137	missense variant	-	NC_000023.11:g.68840523A>G	gnomAD
EFNB1	P98172	p.Arg307Gln	COSM1469021	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840533G>A	NCI-TCGA Cosmic
EFNB1	P98172	p.Thr308Ile	COSM1124299	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.68840536C>T	NCI-TCGA Cosmic
EFNB1	P98172	p.Asn312Lys	rs1214594126	missense variant	-	NC_000023.11:g.68840549C>A	gnomAD
EFNB1	P98172	p.Cys314Tyr	rs777593766	missense variant	-	NC_000023.11:g.68840554G>A	ExAC,gnomAD
EFNB1	P98172	p.Pro315Leu	rs746829979	missense variant	-	NC_000023.11:g.68840557C>T	ExAC
EFNB1	P98172	p.His316Tyr	rs757141230	missense variant	-	NC_000023.11:g.68840559C>T	ExAC,gnomAD
EFNB1	P98172	p.His316Arg	rs781238120	missense variant	-	NC_000023.11:g.68840560A>G	ExAC
EFNB1	P98172	p.Glu318Gly	NCI-TCGA novel	missense variant	-	chrX:g.68840566A>G	NCI-TCGA
EFNB1	P98172	p.LysValSerGly319LysValSerGlyTerValUnk	rs1323390789	stop gained	-	NC_000023.11:g.68840579_68840580insTGAGTGGG	TOPMed
EFNB1	P98172	p.Val320Met	NCI-TCGA novel	missense variant	-	chrX:g.68840571G>A	NCI-TCGA
EFNB1	P98172	p.Ser321Cys	NCI-TCGA novel	missense variant	-	chrX:g.68840574A>T	NCI-TCGA
EFNB1	P98172	p.Gly322Glu	rs1422303104	missense variant	-	NC_000023.11:g.68840578G>A	gnomAD
EFNB1	P98172	p.His326Gln	rs372510064	missense variant	-	NC_000023.11:g.68840591C>A	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.His326Asn	rs1162137787	missense variant	-	NC_000023.11:g.68840589C>A	gnomAD
EFNB1	P98172	p.Ile330Val	rs749494191	missense variant	-	NC_000023.11:g.68840601A>G	ExAC,gnomAD
EFNB1	P98172	p.Val331Phe	rs376262683	missense variant	-	NC_000023.11:g.68840604G>T	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Val331Ile	rs376262683	missense variant	-	NC_000023.11:g.68840604G>A	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Gln332Arg	rs1389059847	missense variant	-	NC_000023.11:g.68840608A>G	TOPMed
EFNB1	P98172	p.Pro335Leu	rs370690590	missense variant	-	chrX:g.68840617C>T	NCI-TCGA,NCI-TCGA Cosmic
EFNB1	P98172	p.Pro335Leu	rs370690590	missense variant	-	NC_000023.11:g.68840617C>T	ESP,ExAC,TOPMed,gnomAD
EFNB1	P98172	p.Pro339Leu	rs1342326823	missense variant	-	NC_000023.11:g.68840629C>T	TOPMed,gnomAD
EFNB1	P98172	p.Ala340Val	rs761232213	missense variant	-	chrX:g.68840632C>T	NCI-TCGA
EFNB1	P98172	p.Ala340Val	rs761232213	missense variant	-	NC_000023.11:g.68840632C>T	ExAC,gnomAD
EFNB1	P98172	p.Ile342Val	rs752189120	missense variant	-	NC_000023.11:g.68840637A>G	ExAC,gnomAD
MDM2	Q00987	p.Thr4Ile	rs1347430167	missense variant	-	NC_000012.12:g.68809222C>T	gnomAD
MDM2	Q00987	p.Ser7Phe	rs781195441	missense variant	-	NC_000012.12:g.68809231C>T	ExAC,gnomAD
MDM2	Q00987	p.Pro9Leu	rs201821879	missense variant	-	NC_000012.12:g.68809237C>T	ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Thr10Ala	rs1450828029	missense variant	-	NC_000012.12:g.68809239A>G	gnomAD
MDM2	Q00987	p.Asp11Glu	rs199663735	missense variant	-	NC_000012.12:g.68809244T>A	ExAC,gnomAD
MDM2	Q00987	p.Ala13Val	rs991848363	missense variant	-	NC_000012.12:g.68809249C>T	TOPMed,gnomAD
MDM2	Q00987	p.Val14Gly	rs1183704933	missense variant	-	NC_000012.12:g.68809252T>G	TOPMed
MDM2	Q00987	p.Thr16Ala	rs749406013	missense variant	-	NC_000012.12:g.68809257A>G	ExAC,gnomAD
MDM2	Q00987	p.Ile19Thr	rs771046322	missense variant	-	NC_000012.12:g.68809267T>C	ExAC,gnomAD
MDM2	Q00987	p.Glu23Lys	rs1361311287	missense variant	-	NC_000012.12:g.68809278G>A	gnomAD
MDM2	Q00987	p.Glu23Gln	rs1361311287	missense variant	-	NC_000012.12:g.68809278G>C	gnomAD
MDM2	Q00987	p.Glu25Gln	rs1246173207	missense variant	-	NC_000012.12:g.68809284G>C	TOPMed
MDM2	Q00987	p.Glu25Gly	rs746439458	missense variant	-	NC_000012.12:g.68809285A>G	ExAC,gnomAD
MDM2	Q00987	p.Thr26Ile	rs772554005	missense variant	-	NC_000012.12:g.68809288C>T	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Thr26Asn	rs772554005	missense variant	-	NC_000012.12:g.68809288C>A	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Leu27Val	rs1295572460	missense variant	-	NC_000012.12:g.68809290C>G	gnomAD
MDM2	Q00987	p.Val28Ile	rs1470334779	missense variant	-	NC_000012.12:g.68813554G>A	TOPMed
MDM2	Q00987	p.Arg29Lys	rs1330733959	missense variant	-	NC_000012.12:g.68813558G>A	gnomAD
MDM2	Q00987	p.Leu35Ser	rs1226240451	missense variant	-	NC_000012.12:g.68813576T>C	gnomAD
MDM2	Q00987	p.Val41Ala	rs777599995	missense variant	-	NC_000012.12:g.68813594T>C	ExAC
MDM2	Q00987	p.Val41Ile	rs1321827832	missense variant	-	NC_000012.12:g.68813593G>A	gnomAD
MDM2	Q00987	p.Asp46Glu	rs563762756	missense variant	-	NC_000012.12:g.68813610C>G	1000Genomes,ExAC,gnomAD
MDM2	Q00987	p.Thr47Ser	rs1487823798	missense variant	-	NC_000012.12:g.68813611A>T	gnomAD
MDM2	Q00987	p.Arg65Gln	rs1385829631	missense variant	-	NC_000012.12:g.68816849G>A	TOPMed,gnomAD
MDM2	Q00987	p.Lys70Met	rs759244097	missense variant	-	NC_000012.12:g.68816864A>T	ExAC,gnomAD
MDM2	Q00987	p.Lys70Gln	rs774100788	missense variant	-	NC_000012.12:g.68816863A>C	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Leu81Val	rs1229293747	missense variant	-	NC_000012.12:g.68816896C>G	gnomAD
MDM2	Q00987	p.Gly83Glu	rs764034976	missense variant	-	NC_000012.12:g.68816903G>A	ExAC,gnomAD
MDM2	Q00987	p.Phe86Cys	rs753663917	missense variant	-	NC_000012.12:g.68816912T>G	ExAC,gnomAD
MDM2	Q00987	p.Gly87Arg	rs761546875	missense variant	-	NC_000012.12:g.68816914G>C	ExAC,gnomAD
MDM2	Q00987	p.Tyr104Cys	rs751618188	missense variant	-	NC_000012.12:g.68820345A>G	ExAC,gnomAD
MDM2	Q00987	p.Asn111Lys	rs1257607973	missense variant	-	NC_000012.12:g.68820367T>G	gnomAD
MDM2	Q00987	p.Asn111Ser	rs767475639	missense variant	-	NC_000012.12:g.68820366A>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ser115Pro	rs1287052048	missense variant	-	NC_000012.12:g.68824365T>C	gnomAD
MDM2	Q00987	p.Ser116Leu	rs567563488	missense variant	-	NC_000012.12:g.68824369C>T	1000Genomes,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Gly119Arg	rs1267194269	missense variant	-	NC_000012.12:g.68824377G>C	TOPMed
MDM2	Q00987	p.Thr120Ile	rs1320937462	missense variant	-	NC_000012.12:g.68824381C>T	gnomAD
MDM2	Q00987	p.Val122Met	rs1330649346	missense variant	-	NC_000012.12:g.68824386G>A	gnomAD
MDM2	Q00987	p.Asn125Ser	rs777635548	missense variant	-	NC_000012.12:g.68824396A>G	ExAC,gnomAD
MDM2	Q00987	p.Leu129Phe	rs770802264	missense variant	-	NC_000012.12:g.68824407C>T	ExAC,gnomAD
MDM2	Q00987	p.Gly132Arg	rs1318570880	missense variant	-	NC_000012.12:g.68824416G>C	TOPMed
MDM2	Q00987	p.Ser133Thr	rs774014032	missense variant	-	NC_000012.12:g.68824420G>C	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Asp134Val	rs1227694909	missense variant	-	NC_000012.12:g.68824423A>T	TOPMed
MDM2	Q00987	p.Gln135Glu	rs759861388	missense variant	-	NC_000012.12:g.68824425C>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Glu141Asp	rs1189496985	missense variant	-	NC_000012.12:g.68824569G>T	TOPMed
MDM2	Q00987	p.Leu142Pro	rs375992646	missense variant	-	NC_000012.12:g.68824571T>C	ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Glu145Gln	rs752222682	missense variant	-	NC_000012.12:g.68824579G>C	ExAC,gnomAD
MDM2	Q00987	p.Glu145Gly	rs1294351700	missense variant	-	NC_000012.12:g.68824580A>G	gnomAD
MDM2	Q00987	p.Pro147Thr	rs1313246462	missense variant	-	NC_000012.12:g.68824585C>A	gnomAD
MDM2	Q00987	p.His151Arg	rs1225544458	missense variant	-	NC_000012.12:g.68824598A>G	TOPMed
MDM2	Q00987	p.Ser157Cys	rs1340897471	missense variant	-	NC_000012.12:g.68824616C>G	TOPMed
MDM2	Q00987	p.Thr158Ser	rs770763010	missense variant	-	NC_000012.12:g.68824618A>T	ExAC,gnomAD
MDM2	Q00987	p.Arg162Thr	rs1424278368	missense variant	-	NC_000012.12:g.68824631G>C	gnomAD
MDM2	Q00987	p.Ala164Ser	rs1297853240	missense variant	-	NC_000012.12:g.68824636G>T	TOPMed
MDM2	Q00987	p.Glu167Asp	rs778784299	missense variant	-	NC_000012.12:g.68824647G>C	ExAC,gnomAD
MDM2	Q00987	p.Thr168Ile	rs745584012	missense variant	-	NC_000012.12:g.68824649C>T	ExAC,gnomAD
MDM2	Q00987	p.Glu169Gly	rs1373817480	missense variant	-	NC_000012.12:g.68828771A>G	TOPMed
MDM2	Q00987	p.Asn171Asp	rs745680967	missense variant	-	NC_000012.12:g.68828776A>G	ExAC,gnomAD
MDM2	Q00987	p.Asn171Ser	rs375746507	missense variant	-	NC_000012.12:g.68828777A>G	ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ser172Leu	rs764554024	missense variant	-	NC_000012.12:g.68828780C>T	gnomAD
MDM2	Q00987	p.Asp173Gly	rs138567205	missense variant	-	NC_000012.12:g.68828783A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Gly177Ser	rs372899015	missense variant	-	NC_000012.12:g.68828794G>A	ESP,TOPMed
MDM2	Q00987	p.Arg179Gln	rs576062594	missense variant	-	NC_000012.12:g.68828801G>A	1000Genomes,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Arg179Pro	rs576062594	missense variant	-	NC_000012.12:g.68828801G>C	1000Genomes,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Arg181Lys	rs776774609	missense variant	-	NC_000012.12:g.68828807G>A	ExAC,gnomAD
MDM2	Q00987	p.Arg183His	rs1194693256	missense variant	-	NC_000012.12:g.68828813G>A	TOPMed
MDM2	Q00987	p.Arg183Cys	rs1555187172	missense variant	-	NC_000012.12:g.68828812C>T	-
MDM2	Q00987	p.Arg183Cys	RCV000649880	missense variant	Accelerated tumor formation, susceptibility to (ACTFS)	NC_000012.12:g.68828812C>T	ClinVar
MDM2	Q00987	p.His184Asn	rs748134261	missense variant	-	NC_000012.12:g.68828815C>A	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.His184Tyr	rs748134261	missense variant	-	NC_000012.12:g.68828815C>T	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Asp187Gly	rs1252636313	missense variant	-	NC_000012.12:g.68828825A>G	TOPMed
MDM2	Q00987	p.Ile189Val	rs1241409542	missense variant	-	NC_000012.12:g.68828830A>G	gnomAD
MDM2	Q00987	p.Ile189Ser	rs370504060	missense variant	-	NC_000012.12:g.68828831T>G	ESP,ExAC,gnomAD
MDM2	Q00987	p.Ser192Cys	rs1369872407	missense variant	-	NC_000012.12:g.68828840C>G	TOPMed
MDM2	Q00987	p.Glu195Gly	rs766801308	missense variant	-	NC_000012.12:g.68828849A>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Glu195Lys	rs763423670	missense variant	-	NC_000012.12:g.68828848G>A	ExAC,gnomAD
MDM2	Q00987	p.Ser196Asn	rs774688124	missense variant	-	NC_000012.12:g.68828852G>A	ExAC,gnomAD
MDM2	Q00987	p.Leu199Val	rs763587937	missense variant	-	NC_000012.12:g.68828860C>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Val201Gly	rs756673959	missense variant	-	NC_000012.12:g.68828867T>G	ExAC,gnomAD
MDM2	Q00987	p.Ile202Val	rs764783109	missense variant	-	NC_000012.12:g.68828869A>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Glu204Asp	rs1321816960	missense variant	-	NC_000012.12:g.68828877G>T	gnomAD
MDM2	Q00987	p.Ile205Leu	rs750452466	missense variant	-	NC_000012.12:g.68828878A>T	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ile205Leu	rs750452466	missense variant	-	NC_000012.12:g.68828878A>C	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ile205Val	rs750452466	missense variant	-	NC_000012.12:g.68828878A>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ile205Leu	RCV000531653	missense variant	Accelerated tumor formation, susceptibility to (ACTFS)	NC_000012.12:g.68828878A>C	ClinVar
MDM2	Q00987	p.Cys206Arg	rs1429670022	missense variant	-	NC_000012.12:g.68828881T>C	gnomAD
MDM2	Q00987	p.Cys207Tyr	rs1429051105	missense variant	-	NC_000012.12:g.68828885G>A	gnomAD
MDM2	Q00987	p.Arg209Gly	rs1464729148	missense variant	-	NC_000012.12:g.68828890A>G	TOPMed
MDM2	Q00987	p.Ser210Thr	rs1270017676	missense variant	-	NC_000012.12:g.68828894G>C	gnomAD
MDM2	Q00987	p.Ser211Arg	rs758396646	missense variant	-	NC_000012.12:g.68828896A>C	ExAC,gnomAD
MDM2	Q00987	p.Ser212Gly	rs780006768	missense variant	-	NC_000012.12:g.68828899A>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ser212Asn	rs1261288897	missense variant	-	NC_000012.12:g.68828900G>A	gnomAD
MDM2	Q00987	p.Ser213Asn	rs1322919983	missense variant	-	NC_000012.12:g.68828903G>A	gnomAD
MDM2	Q00987	p.Thr218Ala	rs746732648	missense variant	-	NC_000012.12:g.68828917A>G	ExAC,gnomAD
MDM2	Q00987	p.Thr218Met	rs755256189	missense variant	-	NC_000012.12:g.68828918C>T	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Pro222Leu	rs1387843274	missense variant	-	NC_000012.12:g.68828930C>T	gnomAD
MDM2	Q00987	p.Leu224Arg	rs1352233718	missense variant	-	NC_000012.12:g.68835833T>G	TOPMed
MDM2	Q00987	p.Leu224Val	rs758413036	missense variant	-	NC_000012.12:g.68835832C>G	ExAC,gnomAD
MDM2	Q00987	p.Ala226Thr	rs766375101	missense variant	-	NC_000012.12:g.68835838G>A	ExAC,gnomAD
MDM2	Q00987	p.Ala226Ser	rs766375101	missense variant	-	NC_000012.12:g.68835838G>T	ExAC,gnomAD
MDM2	Q00987	p.Gly227Ala	rs1392233926	missense variant	-	NC_000012.12:g.68835842G>C	TOPMed,gnomAD
MDM2	Q00987	p.Gly227Cys	rs1365155028	missense variant	-	NC_000012.12:g.68835841G>T	gnomAD
MDM2	Q00987	p.Ser232Ala	rs751419968	missense variant	-	NC_000012.12:g.68835856T>G	ExAC,gnomAD
MDM2	Q00987	p.Leu236Met	rs1375531162	missense variant	-	NC_000012.12:g.68835868T>A	TOPMed
MDM2	Q00987	p.Asp239His	rs1334092635	missense variant	-	NC_000012.12:g.68835877G>C	gnomAD
MDM2	Q00987	p.Asp255Asn	rs549965230	missense variant	-	NC_000012.12:g.68835925G>A	1000Genomes,ExAC,gnomAD
MDM2	Q00987	p.Asp255His	rs549965230	missense variant	-	NC_000012.12:g.68835925G>C	1000Genomes,ExAC,gnomAD
MDM2	Q00987	p.Leu261Phe	rs1436736107	missense variant	-	NC_000012.12:g.68835943C>T	gnomAD
MDM2	Q00987	p.Glu263Asp	rs779345987	missense variant	-	NC_000012.12:g.68835951A>C	ExAC,gnomAD
MDM2	Q00987	p.Glu264Asp	rs568134347	missense variant	-	NC_000012.12:g.68835954A>C	1000Genomes
MDM2	Q00987	p.Gln266Glu	rs1254586249	missense variant	-	NC_000012.12:g.68835958C>G	TOPMed
MDM2	Q00987	p.Glu267Lys	rs1386405599	missense variant	-	NC_000012.12:g.68835961G>A	gnomAD
MDM2	Q00987	p.Glu267Ala	rs371801914	missense variant	-	NC_000012.12:g.68835962A>C	ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Leu268Phe	rs1162032400	missense variant	-	NC_000012.12:g.68835964C>T	gnomAD
MDM2	Q00987	p.Leu268Pro	rs1385029841	missense variant	-	NC_000012.12:g.68835965T>C	gnomAD
MDM2	Q00987	p.Asp270Glu	rs1300121209	missense variant	-	NC_000012.12:g.68835972T>A	TOPMed,gnomAD
MDM2	Q00987	p.Val275Leu	rs371657669	missense variant	-	NC_000012.12:g.68836672G>T	ESP,TOPMed,gnomAD
MDM2	Q00987	p.Gln282His	rs373451300	missense variant	-	NC_000012.12:g.68836695G>C	ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ala283Thr	rs758860429	missense variant	-	NC_000012.12:g.68836696G>A	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ser290Ala	rs1286851604	missense variant	-	NC_000012.12:g.68836717T>G	gnomAD
MDM2	Q00987	p.Ser298Pro	rs755429424	missense variant	-	NC_000012.12:g.68836741T>C	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Leu299Val	rs547696481	missense variant	-	NC_000012.12:g.68836744T>G	1000Genomes,ExAC,gnomAD
MDM2	Q00987	p.Asp301Gly	rs748459725	missense variant	-	NC_000012.12:g.68839275A>G	ExAC,gnomAD
MDM2	Q00987	p.Cys308Tyr	rs1161921915	missense variant	-	NC_000012.12:g.68839296G>A	TOPMed
MDM2	Q00987	p.Glu310Asp	rs778582378	missense variant	-	NC_000012.12:g.68839303A>C	ExAC,gnomAD
MDM2	Q00987	p.Pro313Arg	rs1353702185	missense variant	-	NC_000012.12:g.68839311C>G	gnomAD
MDM2	Q00987	p.Pro313Ser	rs577942747	missense variant	-	NC_000012.12:g.68839310C>T	1000Genomes,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Pro313Thr	rs577942747	missense variant	-	NC_000012.12:g.68839310C>A	1000Genomes,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Pro314Ser	rs1247132124	missense variant	-	NC_000012.12:g.68839313C>T	gnomAD
MDM2	Q00987	p.Leu315Val	rs78419579	missense variant	-	NC_000012.12:g.68839316C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Leu315Phe	rs78419579	missense variant	-	NC_000012.12:g.68839316C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Pro316Leu	rs867680779	missense variant	-	NC_000012.12:g.68839320C>T	-
MDM2	Q00987	p.Pro316Ser	rs1221150148	missense variant	-	NC_000012.12:g.68839319C>T	gnomAD
MDM2	Q00987	p.Asn320Asp	rs776440409	missense variant	-	NC_000012.12:g.68839331A>G	ExAC,gnomAD
MDM2	Q00987	p.Arg321Lys	rs372778876	missense variant	-	NC_000012.12:g.68839335G>A	ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Cys322Arg	rs764918809	missense variant	-	NC_000012.12:g.68839337T>C	ExAC,gnomAD
MDM2	Q00987	p.Trp323Cys	rs1165217954	missense variant	-	NC_000012.12:g.68839342G>T	gnomAD
MDM2	Q00987	p.Leu325Arg	rs1451286579	missense variant	-	NC_000012.12:g.68839347T>G	TOPMed
MDM2	Q00987	p.Arg326Cys	rs773519801	missense variant	-	NC_000012.12:g.68839349C>T	ExAC,gnomAD
MDM2	Q00987	p.Arg326His	rs763077439	missense variant	-	NC_000012.12:g.68839350G>A	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Glu327Asp	rs377647994	missense variant	-	NC_000012.12:g.68839354G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Asp333Ala	rs760127492	missense variant	-	NC_000012.12:g.68839371A>C	ExAC,gnomAD
MDM2	Q00987	p.Asp333Glu	rs1454005555	missense variant	-	NC_000012.12:g.68839372T>G	gnomAD
MDM2	Q00987	p.Gly335Arg	rs1317562896	missense variant	-	NC_000012.12:g.68839376G>C	gnomAD
MDM2	Q00987	p.Glu340Asp	rs1250840344	missense variant	-	NC_000012.12:g.68839393A>C	gnomAD
MDM2	Q00987	p.Ile341Val	rs768100456	missense variant	-	NC_000012.12:g.68839394A>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ile341Asn	rs187882006	missense variant	-	NC_000012.12:g.68839395T>A	1000Genomes
MDM2	Q00987	p.Lys344Arg	rs753138941	missense variant	-	NC_000012.12:g.68839404A>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ala345Asp	rs777969898	missense variant	-	NC_000012.12:g.68839407C>A	ExAC,gnomAD
MDM2	Q00987	p.Ala345Gly	rs777969898	missense variant	-	NC_000012.12:g.68839407C>G	ExAC,gnomAD
MDM2	Q00987	p.Ala345Thr	rs1360489429	missense variant	-	NC_000012.12:g.68839406G>A	TOPMed
MDM2	Q00987	p.Glu348Gly	rs1237701932	missense variant	-	NC_000012.12:g.68839416A>G	TOPMed,gnomAD
MDM2	Q00987	p.Ser350Ala	rs757975502	missense variant	-	NC_000012.12:g.68839421T>G	ExAC,gnomAD
MDM2	Q00987	p.Thr351Lys	rs542860790	missense variant	-	NC_000012.12:g.68839425C>A	1000Genomes,ExAC,gnomAD
MDM2	Q00987	p.Thr351Ile	rs542860790	missense variant	-	NC_000012.12:g.68839425C>T	1000Genomes,ExAC,gnomAD
MDM2	Q00987	p.Val359Leu	rs1472333807	missense variant	-	NC_000012.12:g.68839448G>C	gnomAD
MDM2	Q00987	p.Thr365Ala	rs1421160509	missense variant	-	NC_000012.12:g.68839466A>G	gnomAD
MDM2	Q00987	p.Thr365Ile	rs1407906280	missense variant	-	NC_000012.12:g.68839467C>T	TOPMed,gnomAD
MDM2	Q00987	p.Ile366Thr	rs996214975	missense variant	-	NC_000012.12:g.68839470T>C	TOPMed
MDM2	Q00987	p.Ile366Val	rs562818818	missense variant	-	NC_000012.12:g.68839469A>G	1000Genomes,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ile366Leu	rs562818818	missense variant	-	NC_000012.12:g.68839469A>T	1000Genomes,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Asn368Ser	rs553794444	missense variant	-	NC_000012.12:g.68839476A>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Asp369Gly	rs1470551216	missense variant	-	NC_000012.12:g.68839479A>G	gnomAD
MDM2	Q00987	p.Arg371Thr	rs1408066737	missense variant	-	NC_000012.12:g.68839485G>C	TOPMed
MDM2	Q00987	p.Glu377Ala	rs1381283438	missense variant	-	NC_000012.12:g.68839503A>C	gnomAD
MDM2	Q00987	p.Asp379Asn	rs769693191	missense variant	-	NC_000012.12:g.68839508G>A	ExAC,gnomAD
MDM2	Q00987	p.Ala385Pro	rs772867033	missense variant	-	NC_000012.12:g.68839526G>C	ExAC,gnomAD
MDM2	Q00987	p.Gln387Glu	rs763246240	missense variant	-	NC_000012.12:g.68839532C>G	ExAC,gnomAD
MDM2	Q00987	p.Glu390Gly	rs1476086953	missense variant	-	NC_000012.12:g.68839542A>G	TOPMed
MDM2	Q00987	p.Ser391Asn	rs377036953	missense variant	-	NC_000012.12:g.68839545G>A	1000Genomes,ExAC,gnomAD
MDM2	Q00987	p.Ser391Arg	rs759644422	missense variant	-	NC_000012.12:g.68839546T>G	ExAC,gnomAD
MDM2	Q00987	p.Asp393Gly	rs1261148726	missense variant	-	NC_000012.12:g.68839551A>G	TOPMed,gnomAD
MDM2	Q00987	p.Asp393His	rs767686947	missense variant	-	NC_000012.12:g.68839550G>C	ExAC,gnomAD
MDM2	Q00987	p.Asp393Val	rs1261148726	missense variant	-	NC_000012.12:g.68839551A>T	TOPMed,gnomAD
MDM2	Q00987	p.Tyr394Cys	rs753298202	missense variant	-	NC_000012.12:g.68839554A>G	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ser395Phe	rs1293117772	missense variant	-	NC_000012.12:g.68839557C>T	TOPMed,gnomAD
MDM2	Q00987	p.Thr399Ala	rs1293580721	missense variant	-	NC_000012.12:g.68839568A>G	TOPMed
MDM2	Q00987	p.Ser401Gly	rs570992498	missense variant	-	NC_000012.12:g.68839574A>G	1000Genomes,ExAC,gnomAD
MDM2	Q00987	p.Ser402Gly	rs1173684536	missense variant	-	NC_000012.12:g.68839577A>G	gnomAD
MDM2	Q00987	p.Tyr405Cys	rs367597251	missense variant	-	NC_000012.12:g.68839587A>G	ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ser406Ile	rs754521846	missense variant	-	NC_000012.12:g.68839590G>T	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ser407Asn	rs1347318671	missense variant	-	NC_000012.12:g.68839593G>A	gnomAD
MDM2	Q00987	p.Ser407Gly	rs780673045	missense variant	-	NC_000012.12:g.68839592A>G	ExAC,gnomAD
MDM2	Q00987	p.Gln408Leu	rs201788800	missense variant	-	NC_000012.12:g.68839596A>T	ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Gln408His	rs201686188	missense variant	-	NC_000012.12:g.68839597A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Val411Leu	rs1404470503	missense variant	-	NC_000012.12:g.68839604G>T	TOPMed
MDM2	Q00987	p.Glu413Gly	rs200828111	missense variant	-	NC_000012.12:g.68839611A>G	1000Genomes
MDM2	Q00987	p.Phe414Ser	rs200081348	missense variant	-	NC_000012.12:g.68839614T>C	1000Genomes
MDM2	Q00987	p.Glu415Gly	rs771210713	missense variant	-	NC_000012.12:g.68839617A>G	ExAC,gnomAD
MDM2	Q00987	p.Glu415Lys	rs1225427397	missense variant	-	NC_000012.12:g.68839616G>A	gnomAD
MDM2	Q00987	p.Glu417Gln	rs1292651740	missense variant	-	NC_000012.12:g.68839622G>C	TOPMed,gnomAD
MDM2	Q00987	p.Asp421Glu	rs774767562	missense variant	-	NC_000012.12:g.68839636C>G	ExAC,gnomAD
MDM2	Q00987	p.Asp421Glu	rs774767562	missense variant	-	NC_000012.12:g.68839636C>A	ExAC,gnomAD
MDM2	Q00987	p.Glu424Gln	rs1205651053	missense variant	-	NC_000012.12:g.68839643G>C	gnomAD
MDM2	Q00987	p.Glu424Val	rs1286039833	missense variant	-	NC_000012.12:g.68839644A>T	gnomAD
MDM2	Q00987	p.Ser425Asn	rs1215689092	missense variant	-	NC_000012.12:g.68839647G>A	gnomAD
MDM2	Q00987	p.Ser425Cys	rs1445090126	missense variant	-	NC_000012.12:g.68839646A>T	gnomAD
MDM2	Q00987	p.Ser428Cys	rs1269114698	missense variant	-	NC_000012.12:g.68839656C>G	gnomAD
MDM2	Q00987	p.Ser429Arg	rs1376586613	missense variant	-	NC_000012.12:g.68839660T>G	TOPMed,gnomAD
MDM2	Q00987	p.Ser429Arg	rs747786956	missense variant	-	NC_000012.12:g.68839658A>C	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Ser429Asn	rs775699841	missense variant	-	NC_000012.12:g.68839659G>A	ExAC,gnomAD
MDM2	Q00987	p.Pro431Ser	rs761259297	missense variant	-	NC_000012.12:g.68839664C>T	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Leu432Phe	rs764465968	missense variant	-	NC_000012.12:g.68839667C>T	ExAC,gnomAD
MDM2	Q00987	p.Ile435Val	rs777075587	missense variant	-	NC_000012.12:g.68839676A>G	ExAC,gnomAD
MDM2	Q00987	p.Ile435Met	rs762132706	missense variant	-	NC_000012.12:g.68839678T>G	ExAC,gnomAD
MDM2	Q00987	p.Cys438Tyr	rs765555199	missense variant	-	NC_000012.12:g.68839686G>A	ExAC,gnomAD
MDM2	Q00987	p.Gly453Asp	rs1475420873	missense variant	-	NC_000012.12:g.68839731G>A	gnomAD
MDM2	Q00987	p.Lys454Arg	rs993369688	missense variant	-	NC_000012.12:g.68839734A>G	TOPMed
MDM2	Q00987	p.Met459Ile	rs767024509	missense variant	-	NC_000012.12:g.68839750G>C	ExAC,gnomAD
MDM2	Q00987	p.Thr463Ser	rs756110138	missense variant	-	NC_000012.12:g.68839760A>T	ExAC,TOPMed,gnomAD
MDM2	Q00987	p.Lys466Gln	rs1183456367	missense variant	-	NC_000012.12:g.68839769A>C	gnomAD
MDM2	Q00987	p.Asn472His	rs1044633873	missense variant	-	NC_000012.12:g.68839787A>C	TOPMed,gnomAD
MDM2	Q00987	p.Cys475Ser	rs550783815	missense variant	-	NC_000012.12:g.68839797G>C	1000Genomes
MDM2	Q00987	p.Val477Leu	rs777525974	missense variant	-	NC_000012.12:g.68839802G>T	ExAC,gnomAD
MDM2	Q00987	p.Gln483Glu	rs1183412415	missense variant	-	NC_000012.12:g.68839820C>G	gnomAD
E2F1	Q01094	p.Gly5Arg	rs1329261524	missense variant	-	NC_000020.11:g.33686252C>T	gnomAD
E2F1	Q01094	p.Ala6Ser	rs1467155271	missense variant	-	NC_000020.11:g.33686249C>A	TOPMed,gnomAD
E2F1	Q01094	p.Pro7Ser	rs1463146837	missense variant	-	NC_000020.11:g.33686246G>A	TOPMed
E2F1	Q01094	p.Ala8Glu	rs974575261	missense variant	-	NC_000020.11:g.33686242G>T	TOPMed,gnomAD
E2F1	Q01094	p.Ala8Val	rs974575261	missense variant	-	NC_000020.11:g.33686242G>A	TOPMed,gnomAD
E2F1	Q01094	p.Gly9Asp	rs1397093511	missense variant	-	NC_000020.11:g.33686239C>T	TOPMed,gnomAD
E2F1	Q01094	p.Pro11Ala	rs1336775242	missense variant	-	NC_000020.11:g.33686234G>C	TOPMed
E2F1	Q01094	p.Cys12Ser	rs574523664	missense variant	-	NC_000020.11:g.33686231A>T	1000Genomes,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Cys12Arg	rs574523664	missense variant	-	NC_000020.11:g.33686231A>G	1000Genomes,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Ala15Val	rs1281052952	missense variant	-	NC_000020.11:g.33686221G>A	gnomAD
E2F1	Q01094	p.Glu17Val	rs1185589452	missense variant	-	NC_000020.11:g.33686215T>A	TOPMed,gnomAD
E2F1	Q01094	p.Gly21Arg	rs1019744956	missense variant	-	NC_000020.11:g.33686204C>G	TOPMed
E2F1	Q01094	p.Gly23Asp	rs1367513756	missense variant	-	NC_000020.11:g.33686197C>T	gnomAD
E2F1	Q01094	p.Gly23Ser	rs1405640419	missense variant	-	NC_000020.11:g.33686198C>T	TOPMed,gnomAD
E2F1	Q01094	p.Ala24Thr	rs1237692050	missense variant	-	NC_000020.11:g.33686195C>T	gnomAD
E2F1	Q01094	p.Leu25Pro	rs1405256181	missense variant	-	NC_000020.11:g.33686191A>G	gnomAD
E2F1	Q01094	p.Arg26Trp	rs1386191320	missense variant	-	NC_000020.11:g.33686189G>A	gnomAD
E2F1	Q01094	p.Leu28Phe	rs1160676980	missense variant	-	NC_000020.11:g.33686183G>A	gnomAD
E2F1	Q01094	p.Asp29Glu	rs1008300493	missense variant	-	NC_000020.11:g.33686178G>T	TOPMed
E2F1	Q01094	p.Ser31Ter	rs1452027367	stop gained	-	NC_000020.11:g.33686173G>T	gnomAD
E2F1	Q01094	p.Val34Leu	rs1456437519	missense variant	-	NC_000020.11:g.33686165C>G	TOPMed
E2F1	Q01094	p.Ile35Val	rs1300481628	missense variant	-	NC_000020.11:g.33686162T>C	TOPMed
E2F1	Q01094	p.Ser43Arg	rs1011962033	missense variant	-	NC_000020.11:g.33686136G>C	TOPMed
E2F1	Q01094	p.Pro45Ser	rs1209626586	missense variant	-	NC_000020.11:g.33686132G>A	gnomAD
E2F1	Q01094	p.Pro48Ser	rs1354620926	missense variant	-	NC_000020.11:g.33686123G>A	gnomAD
E2F1	Q01094	p.Ala52Ser	rs1320649718	missense variant	-	NC_000020.11:g.33686111C>A	TOPMed
E2F1	Q01094	p.Ala53Thr	rs1218731737	missense variant	-	NC_000020.11:g.33686108C>T	TOPMed
E2F1	Q01094	p.Pro54Leu	rs1252483725	missense variant	-	NC_000020.11:g.33686104G>A	TOPMed
E2F1	Q01094	p.Ala55Ser	rs13041707	missense variant	-	NC_000020.11:g.33686102C>A	gnomAD
E2F1	Q01094	p.Pro58Ser	rs1045481159	missense variant	-	NC_000020.11:g.33686093G>A	TOPMed,gnomAD
E2F1	Q01094	p.Pro58Leu	rs1249387152	missense variant	-	NC_000020.11:g.33686092G>A	TOPMed
E2F1	Q01094	p.Leu65Phe	rs940463871	missense variant	-	NC_000020.11:g.33686072G>A	TOPMed
E2F1	Q01094	p.Pro76Arg	rs1163948608	missense variant	-	NC_000020.11:g.33686038G>C	TOPMed,gnomAD
E2F1	Q01094	p.Pro76Ser	rs907590073	missense variant	-	NC_000020.11:g.33686039G>A	TOPMed,gnomAD
E2F1	Q01094	p.Ser77Gly	rs1429701584	missense variant	-	NC_000020.11:g.33686036T>C	TOPMed
E2F1	Q01094	p.Ala78Ser	rs1306675586	missense variant	-	NC_000020.11:g.33686033C>A	TOPMed
E2F1	Q01094	p.Arg80Gln	rs1415762835	missense variant	-	NC_000020.11:g.33686026C>T	TOPMed
E2F1	Q01094	p.Ala82Glu	rs1226199249	missense variant	-	NC_000020.11:g.33686020G>T	TOPMed
E2F1	Q01094	p.Ala82Thr	rs930265454	missense variant	-	NC_000020.11:g.33686021C>T	TOPMed
E2F1	Q01094	p.Leu83Phe	rs1297124529	missense variant	-	NC_000020.11:g.33686018G>A	TOPMed
E2F1	Q01094	p.Gly84Ser	rs1307523848	missense variant	-	NC_000020.11:g.33686015C>T	TOPMed
E2F1	Q01094	p.Pro87Arg	rs1447539203	missense variant	-	NC_000020.11:g.33686005G>C	gnomAD
E2F1	Q01094	p.Lys89Arg	rs757413708	missense variant	-	NC_000020.11:g.33680412T>C	ExAC,gnomAD
E2F1	Q01094	p.Arg90Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33680410G>A	NCI-TCGA
E2F1	Q01094	p.Asp93Glu	rs560305222	missense variant	-	NC_000020.11:g.33680399G>T	1000Genomes,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Asp93Asn	rs1445293021	missense variant	-	NC_000020.11:g.33680401C>T	TOPMed
E2F1	Q01094	p.Asp97His	rs758760049	missense variant	-	NC_000020.11:g.33680389C>G	ExAC,gnomAD
E2F1	Q01094	p.His98Tyr	COSM3545490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33680386G>A	NCI-TCGA Cosmic
E2F1	Q01094	p.Gln99Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.33680383G>A	NCI-TCGA
E2F1	Q01094	p.Tyr100Cys	rs753190783	missense variant	-	NC_000020.11:g.33680379T>C	ExAC,gnomAD
E2F1	Q01094	p.Tyr100Phe	rs753190783	missense variant	-	NC_000020.11:g.33680379T>A	ExAC,gnomAD
E2F1	Q01094	p.Leu101Pro	rs1434158366	missense variant	-	NC_000020.11:g.33680376A>G	TOPMed,gnomAD
E2F1	Q01094	p.Ala102Thr	rs145741678	missense variant	-	NC_000020.11:g.33680374C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Glu103Lys	rs747305116	missense variant	-	NC_000020.11:g.33680371C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Glu103Asp	rs577941795	missense variant	-	NC_000020.11:g.33680369C>G	1000Genomes,ExAC,gnomAD
E2F1	Q01094	p.Pro107Arg	rs767288307	missense variant	-	NC_000020.11:g.33680358G>C	ExAC,gnomAD
E2F1	Q01094	p.Ala108Asp	rs1159129500	missense variant	-	NC_000020.11:g.33680355G>T	TOPMed
E2F1	Q01094	p.Ala108Val	rs1159129500	missense variant	-	NC_000020.11:g.33680355G>A	TOPMed
E2F1	Q01094	p.Arg109Trp	rs149803612	missense variant	-	NC_000020.11:g.33680353G>A	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Arg109Gln	rs199740633	missense variant	-	NC_000020.11:g.33680352C>T	1000Genomes,TOPMed,gnomAD
E2F1	Q01094	p.Arg109Pro	rs199740633	missense variant	-	NC_000020.11:g.33680352C>G	1000Genomes,TOPMed,gnomAD
E2F1	Q01094	p.Gly110Ser	COSM3545488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33680350C>T	NCI-TCGA Cosmic
E2F1	Q01094	p.Arg113Cys	rs774045899	missense variant	-	NC_000020.11:g.33680341G>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Arg113His	rs768373441	missense variant	-	NC_000020.11:g.33680340C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Pro115Thr	rs1439667088	missense variant	-	NC_000020.11:g.33680335G>T	TOPMed
E2F1	Q01094	p.Ser121PhePheSerTerUnk	COSM1483556	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.33679965_33679966insA	NCI-TCGA Cosmic
E2F1	Q01094	p.Pro122Leu	rs200324089	missense variant	-	NC_000020.11:g.33679962G>A	1000Genomes,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Pro122Gln	rs200324089	missense variant	-	NC_000020.11:g.33679962G>T	1000Genomes,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Glu124ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.33679957C>-	NCI-TCGA
E2F1	Q01094	p.Glu124Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33679957C>G	NCI-TCGA
E2F1	Q01094	p.Glu124Gly	rs748471303	missense variant	-	NC_000020.11:g.33679956T>C	ExAC,gnomAD
E2F1	Q01094	p.Arg127His	COSM244178	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33679947C>T	NCI-TCGA Cosmic
E2F1	Q01094	p.Tyr128Phe	rs1349182634	missense variant	-	NC_000020.11:g.33679944T>A	TOPMed,gnomAD
E2F1	Q01094	p.Thr130Ser	rs779392416	missense variant	-	NC_000020.11:g.33679938G>C	ExAC,gnomAD
E2F1	Q01094	p.Ser131Ter	COSM1025974	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.33679935G>C	NCI-TCGA Cosmic
E2F1	Q01094	p.Asn133Ser	rs1485295370	missense variant	-	NC_000020.11:g.33679929T>C	TOPMed
E2F1	Q01094	p.Thr135Ile	rs755388533	missense variant	-	NC_000020.11:g.33679923G>A	ExAC,gnomAD
E2F1	Q01094	p.Arg138Cys	COSM2757824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33679915G>A	NCI-TCGA Cosmic
E2F1	Q01094	p.Ser144Arg	COSM1025973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33679897T>G	NCI-TCGA Cosmic
E2F1	Q01094	p.Ala147Val	rs751015434	missense variant	-	NC_000020.11:g.33679887G>A	ExAC,gnomAD
E2F1	Q01094	p.Asp148ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.33679881_33679884CCGT>-	NCI-TCGA
E2F1	Q01094	p.Asp148Asn	COSM724002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33679885C>T	NCI-TCGA Cosmic
E2F1	Q01094	p.Val151Ala	rs752291306	missense variant	-	NC_000020.11:g.33679875A>G	ExAC,gnomAD
E2F1	Q01094	p.Val151Ile	rs758127423	missense variant	-	NC_000020.11:g.33679876C>T	ExAC,gnomAD
E2F1	Q01094	p.Glu158Lys	rs759306871	missense variant	-	NC_000020.11:g.33679855C>T	ExAC,gnomAD
E2F1	Q01094	p.Val159Met	rs371120550	missense variant	-	NC_000020.11:g.33679852C>T	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Arg165Gln	COSM577076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33679833C>T	NCI-TCGA Cosmic
E2F1	Q01094	p.Arg165Trp	COSM443676	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33679834G>A	NCI-TCGA Cosmic
E2F1	Q01094	p.Arg166His	rs864622017	missense variant	-	NC_000020.11:g.33679830C>T	-
E2F1	Q01094	p.Arg166His	RCV000204567	missense variant	Malignant tumor of prostate	NC_000020.11:g.33679830C>T	ClinVar
E2F1	Q01094	p.Tyr168Cys	COSM443675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33679824T>C	NCI-TCGA Cosmic
E2F1	Q01094	p.Asn172Ser	rs1413440731	missense variant	-	NC_000020.11:g.33679812T>C	TOPMed
E2F1	Q01094	p.Leu174Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33679807G>T	NCI-TCGA
E2F1	Q01094	p.Ile180Val	rs377425346	missense variant	-	NC_000020.11:g.33679789T>C	ESP,ExAC,gnomAD
E2F1	Q01094	p.Lys185GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.33679773_33679774TT>-	NCI-TCGA
E2F1	Q01094	p.Gln189Ter	COSM3545487	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.33679762G>A	NCI-TCGA Cosmic
E2F1	Q01094	p.Gly192Ala	rs776055929	missense variant	-	NC_000020.11:g.33678351C>G	ExAC,gnomAD
E2F1	Q01094	p.Ser193Arg	rs1315185562	missense variant	-	NC_000020.11:g.33678347G>C	TOPMed,gnomAD
E2F1	Q01094	p.His194Tyr	rs770049550	missense variant	-	NC_000020.11:g.33678346G>A	ExAC,gnomAD
E2F1	Q01094	p.Val199Ile	rs771638059	missense variant	-	NC_000020.11:g.33678331C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Val199Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33678330A>G	NCI-TCGA
E2F1	Q01094	p.Val199Phe	rs771638059	missense variant	-	NC_000020.11:g.33678331C>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Gly200Asp	rs754564586	missense variant	-	NC_000020.11:g.33678327C>T	ExAC,gnomAD
E2F1	Q01094	p.Gly200Ser	rs35385772	missense variant	-	NC_000020.11:g.33678328C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Gly200Ser	rs35385772	missense variant	-	NC_000020.11:g.33678328C>T	UniProt,dbSNP
E2F1	Q01094	p.Gly200Ser	VAR_048907	missense variant	-	NC_000020.11:g.33678328C>T	UniProt
E2F1	Q01094	p.Gly201Arg	rs753472103	missense variant	-	NC_000020.11:g.33678325C>T	ExAC,gnomAD
E2F1	Q01094	p.Arg202Gln	rs373902244	missense variant	-	NC_000020.11:g.33678321C>T	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Arg202Trp	rs377637237	missense variant	-	NC_000020.11:g.33678322G>A	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Leu203His	rs546049774	missense variant	-	NC_000020.11:g.33678318A>T	1000Genomes,gnomAD
E2F1	Q01094	p.Gly205Glu	rs750422437	missense variant	-	NC_000020.11:g.33678312C>T	ExAC,gnomAD
E2F1	Q01094	p.Leu206Trp	rs1273903227	missense variant	-	NC_000020.11:g.33678309A>C	gnomAD
E2F1	Q01094	p.Gln208Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33678303T>A	NCI-TCGA
E2F1	Q01094	p.Gln208His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33678302C>A	NCI-TCGA
E2F1	Q01094	p.Gln208Arg	rs1463764539	missense variant	-	NC_000020.11:g.33678303T>C	TOPMed
E2F1	Q01094	p.Arg211Gln	rs767306081	missense variant	-	NC_000020.11:g.33678294C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Arg211Ter	rs1223127537	stop gained	-	NC_000020.11:g.33678295G>A	gnomAD
E2F1	Q01094	p.Gln212Leu	rs200658903	missense variant	-	NC_000020.11:g.33678291T>A	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Ser216Asn	rs764256438	missense variant	-	NC_000020.11:g.33678279C>T	ExAC,gnomAD
E2F1	Q01094	p.His222Arg	rs1411810755	missense variant	-	NC_000020.11:g.33678261T>C	gnomAD
E2F1	Q01094	p.Met224Ile	rs199745489	missense variant	-	NC_000020.11:g.33678254C>T	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Met224Thr	rs1308009438	missense variant	-	NC_000020.11:g.33678255A>G	gnomAD
E2F1	Q01094	p.Asn225Ser	rs1161856955	missense variant	-	NC_000020.11:g.33678252T>C	gnomAD
E2F1	Q01094	p.Asn225Asp	rs759773652	missense variant	-	NC_000020.11:g.33678253T>C	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Cys227Phe	COSM724004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33678246C>A	NCI-TCGA Cosmic
E2F1	Q01094	p.Thr229Met	rs771273717	missense variant	-	NC_000020.11:g.33678240G>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Thr229Arg	rs771273717	missense variant	-	NC_000020.11:g.33678240G>C	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Thr229Lys	rs771273717	missense variant	-	NC_000020.11:g.33678240G>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Gln230His	rs201920937	missense variant	-	NC_000020.11:g.33678236C>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Gln230Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.33678238G>A	NCI-TCGA
E2F1	Q01094	p.Arg232His	rs1372237664	missense variant	-	NC_000020.11:g.33678231C>T	TOPMed
E2F1	Q01094	p.Arg232Cys	rs531113927	missense variant	-	NC_000020.11:g.33678232G>A	1000Genomes,ExAC,gnomAD
E2F1	Q01094	p.Glu236Lys	rs1200120018	missense variant	-	NC_000020.11:g.33678220C>T	gnomAD
E2F1	Q01094	p.Asp237Val	rs1453289243	missense variant	-	NC_000020.11:g.33678216T>A	gnomAD
E2F1	Q01094	p.Thr238Asn	rs1217897911	missense variant	-	NC_000020.11:g.33678213G>T	gnomAD
E2F1	Q01094	p.Ser240Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33678207C>T	NCI-TCGA
E2F1	Q01094	p.Gln241Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.33678205G>A	NCI-TCGA
E2F1	Q01094	p.Arg242His	rs745608299	missense variant	-	NC_000020.11:g.33678201C>T	ExAC,gnomAD
E2F1	Q01094	p.Val246Ala	COSM1025970	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33677529A>G	NCI-TCGA Cosmic
E2F1	Q01094	p.Thr247Met	rs913895798	missense variant	-	NC_000020.11:g.33677526G>A	gnomAD
E2F1	Q01094	p.Gln249Glu	rs376645897	missense variant	-	NC_000020.11:g.33677521G>C	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Asp250Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33677518C>T	NCI-TCGA
E2F1	Q01094	p.Arg252His	rs3213172	missense variant	-	NC_000020.11:g.33677511C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Arg252Cys	COSM122751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33677512G>A	NCI-TCGA Cosmic
E2F1	Q01094	p.Ile254Thr	rs373383167	missense variant	-	NC_000020.11:g.33677505A>G	ESP,ExAC,gnomAD
E2F1	Q01094	p.Ala255Val	rs1448591564	missense variant	-	NC_000020.11:g.33677502G>A	TOPMed,gnomAD
E2F1	Q01094	p.Ala255Gly	rs1448591564	missense variant	-	NC_000020.11:g.33677502G>C	TOPMed,gnomAD
E2F1	Q01094	p.Asp256Asn	rs758585438	missense variant	-	NC_000020.11:g.33677500C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Asp256His	rs758585438	missense variant	-	NC_000020.11:g.33677500C>G	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Glu259Asp	rs34468325	missense variant	-	NC_000020.11:g.33677489C>A	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Gln260Arg	rs1444239480	missense variant	-	NC_000020.11:g.33677487T>C	gnomAD
E2F1	Q01094	p.Val262Ile	rs765506787	missense variant	-	NC_000020.11:g.33677482C>T	ExAC,gnomAD
E2F1	Q01094	p.Met263Leu	rs1370578502	missense variant	-	NC_000020.11:g.33677479T>G	TOPMed
E2F1	Q01094	p.Val264Leu	rs1199894772	missense variant	-	NC_000020.11:g.33677476C>G	TOPMed,gnomAD
E2F1	Q01094	p.Lys266Arg	rs755210188	missense variant	-	NC_000020.11:g.33677469T>C	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Ala267Val	rs1226721709	missense variant	-	NC_000020.11:g.33677466G>A	gnomAD
E2F1	Q01094	p.Ala267Thr	rs1300371237	missense variant	-	NC_000020.11:g.33677467C>T	gnomAD
E2F1	Q01094	p.Pro268Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33677464G>C	NCI-TCGA
E2F1	Q01094	p.Pro269Arg	rs917803687	missense variant	-	NC_000020.11:g.33677460G>C	TOPMed
E2F1	Q01094	p.Gln272His	rs541956472	missense variant	-	NC_000020.11:g.33677450C>G	1000Genomes,ExAC,gnomAD
E2F1	Q01094	p.Gln272Leu	COSM4915933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33677451T>A	NCI-TCGA Cosmic
E2F1	Q01094	p.Val276Met	rs3213173	missense variant	-	NC_000020.11:g.33677440C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Asp277His	rs1409977256	missense variant	-	NC_000020.11:g.33677437C>G	TOPMed,gnomAD
E2F1	Q01094	p.Asp277Tyr	rs1409977256	missense variant	-	NC_000020.11:g.33677437C>A	TOPMed,gnomAD
E2F1	Q01094	p.Ser279Pro	rs767969405	missense variant	-	NC_000020.11:g.33677431A>G	ExAC,gnomAD
E2F1	Q01094	p.Ser279Leu	rs183250565	missense variant	-	NC_000020.11:g.33677430G>A	1000Genomes,TOPMed,gnomAD
E2F1	Q01094	p.Glu280Gln	COSM1025969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33677428C>G	NCI-TCGA Cosmic
E2F1	Q01094	p.Leu286Phe	rs1411968038	missense variant	-	NC_000020.11:g.33677315G>A	TOPMed,gnomAD
E2F1	Q01094	p.Lys289Gln	rs1254039207	missense variant	-	NC_000020.11:g.33677306T>G	gnomAD
E2F1	Q01094	p.Gln290Arg	rs1031106445	missense variant	-	NC_000020.11:g.33677302T>C	TOPMed
E2F1	Q01094	p.Gly291Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33677299C>A	NCI-TCGA
E2F1	Q01094	p.Pro292Leu	rs867122904	missense variant	-	NC_000020.11:g.33677296G>A	TOPMed
E2F1	Q01094	p.Ile293Val	rs1483031461	missense variant	-	NC_000020.11:g.33677294T>C	gnomAD
E2F1	Q01094	p.Asp294Glu	rs752075116	missense variant	-	NC_000020.11:g.33677289A>T	ExAC,gnomAD
E2F1	Q01094	p.Asp294Asn	rs762296081	missense variant	-	NC_000020.11:g.33677291C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Val295Asp	COSM1025967	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33677287A>T	NCI-TCGA Cosmic
E2F1	Q01094	p.Pro299His	COSM1025966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33677275G>T	NCI-TCGA Cosmic
E2F1	Q01094	p.Thr302Ser	rs1330667209	missense variant	-	NC_000020.11:g.33677267T>A	gnomAD
E2F1	Q01094	p.Val303Ile	rs770643353	missense variant	-	NC_000020.11:g.33677264C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Ile306Asn	rs1295204827	missense variant	-	NC_000020.11:g.33677254A>T	TOPMed,gnomAD
E2F1	Q01094	p.Ile306Val	COSM6092803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33677255T>C	NCI-TCGA Cosmic
E2F1	Q01094	p.Pro308Ser	rs773197012	missense variant	-	NC_000020.11:g.33677249G>A	ExAC,gnomAD
E2F1	Q01094	p.Gly309Glu	rs535573433	missense variant	-	NC_000020.11:g.33677245C>T	1000Genomes,ExAC,gnomAD
E2F1	Q01094	p.Thr311Asn	rs3213174	missense variant	-	NC_000020.11:g.33677239G>T	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Pro312Leu	rs778884599	missense variant	-	NC_000020.11:g.33677236G>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Ser313Pro	rs768640915	missense variant	-	NC_000020.11:g.33677234A>G	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Gln314His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33677229C>A	NCI-TCGA
E2F1	Q01094	p.Ser318Phe	rs749348639	missense variant	-	NC_000020.11:g.33677218G>A	ExAC
E2F1	Q01094	p.Ser318Thr	rs1163087475	missense variant	-	NC_000020.11:g.33677219A>T	TOPMed,gnomAD
E2F1	Q01094	p.Glu320Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.33677213C>A	NCI-TCGA
E2F1	Q01094	p.Glu321Asp	COSM1025965	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33677208C>A	NCI-TCGA Cosmic
E2F1	Q01094	p.Asn322Tyr	rs1426219585	missense variant	-	NC_000020.11:g.33677207T>A	gnomAD
E2F1	Q01094	p.Arg323Lys	rs144481343	missense variant	-	NC_000020.11:g.33677203C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Ala324Thr	rs553413048	missense variant	-	NC_000020.11:g.33677201C>T	1000Genomes,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Ala324Gly	rs1437203114	missense variant	-	NC_000020.11:g.33677200G>C	gnomAD
E2F1	Q01094	p.Ser327Cys	rs1218719606	missense variant	-	NC_000020.11:g.33677191G>C	TOPMed
E2F1	Q01094	p.Ala328Gly	rs1276667126	missense variant	-	NC_000020.11:g.33677188G>C	TOPMed
E2F1	Q01094	p.Val331Leu	rs1209699253	missense variant	-	NC_000020.11:g.33677180C>G	gnomAD
E2F1	Q01094	p.Pro334Ser	rs1331442679	missense variant	-	NC_000020.11:g.33677171G>A	TOPMed
E2F1	Q01094	p.Pro334Gln	rs750641087	missense variant	-	NC_000020.11:g.33677170G>T	ExAC,gnomAD
E2F1	Q01094	p.Pro335Arg	rs1227306281	missense variant	-	NC_000020.11:g.33677167G>C	gnomAD
E2F1	Q01094	p.Pro335Ala	rs149272498	missense variant	-	NC_000020.11:g.33677168G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Ser336Pro	rs1268470913	missense variant	-	NC_000020.11:g.33677165A>G	TOPMed
E2F1	Q01094	p.Pro338Ser	rs757620294	missense variant	-	NC_000020.11:g.33677159G>A	ExAC,gnomAD
E2F1	Q01094	p.Pro339Leu	rs764626563	missense variant	-	NC_000020.11:g.33677155G>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Pro339Ala	rs752029737	missense variant	-	NC_000020.11:g.33677156G>C	ExAC,gnomAD
E2F1	Q01094	p.Ser340LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.33677153_33677154insG	NCI-TCGA
E2F1	Q01094	p.Ser340Leu	rs1478347951	missense variant	-	NC_000020.11:g.33677152G>A	TOPMed
E2F1	Q01094	p.Thr343Pro	rs765976516	missense variant	-	NC_000020.11:g.33677144T>G	ExAC,gnomAD
E2F1	Q01094	p.Thr343Ile	rs564825532	missense variant	-	NC_000020.11:g.33677143G>A	ExAC,gnomAD
E2F1	Q01094	p.Thr344Arg	rs771807428	missense variant	-	NC_000020.11:g.33677140G>C	ExAC,gnomAD
E2F1	Q01094	p.Asp345Gly	rs761616906	missense variant	-	NC_000020.11:g.33677137T>C	ExAC,gnomAD
E2F1	Q01094	p.Pro346Ser	rs145759508	missense variant	-	NC_000020.11:g.33677135G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Pro346Leu	COSM3545484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33677134G>A	NCI-TCGA Cosmic
E2F1	Q01094	p.Ser349Tyr	rs1458453215	missense variant	-	NC_000020.11:g.33677125G>T	TOPMed
E2F1	Q01094	p.Leu350Val	rs749340138	missense variant	-	NC_000020.11:g.33677123G>C	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Pro357Leu	rs745908531	missense variant	-	NC_000020.11:g.33676976G>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Arg361Trp	rs747187347	missense variant	-	NC_000020.11:g.33676965G>A	ExAC,gnomAD
E2F1	Q01094	p.Arg361Gln	rs778271263	missense variant	-	NC_000020.11:g.33676964C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Arg361Pro	rs778271263	missense variant	-	NC_000020.11:g.33676964C>G	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Gly363Cys	rs1167700961	missense variant	-	NC_000020.11:g.33676959C>A	gnomAD
E2F1	Q01094	p.Gly363Arg	COSM1307298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33676959C>G	NCI-TCGA Cosmic
E2F1	Q01094	p.Leu365Pro	rs1392564339	missense variant	-	NC_000020.11:g.33676952A>G	TOPMed
E2F1	Q01094	p.Arg366Gln	rs755713339	missense variant	-	NC_000020.11:g.33676949C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Arg366Trp	rs779509637	missense variant	-	NC_000020.11:g.33676950G>A	ExAC,gnomAD
E2F1	Q01094	p.Arg366Leu	rs755713339	missense variant	-	NC_000020.11:g.33676949C>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Ala367Thr	rs1183655268	missense variant	-	NC_000020.11:g.33676947C>T	gnomAD
E2F1	Q01094	p.Pro368Ser	rs1249650575	missense variant	-	NC_000020.11:g.33676944G>A	gnomAD
E2F1	Q01094	p.Pro368Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33676943G>A	NCI-TCGA
E2F1	Q01094	p.Val369Leu	rs367723468	missense variant	-	NC_000020.11:g.33676941C>G	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Val369Met	rs367723468	missense variant	-	NC_000020.11:g.33676941C>T	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Glu371Lys	rs373587139	missense variant	-	NC_000020.11:g.33676935C>T	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Glu371Asp	rs762689168	missense variant	-	NC_000020.11:g.33676933C>A	ExAC,gnomAD
E2F1	Q01094	p.Asp372Asn	rs1230230127	missense variant	-	NC_000020.11:g.33676932C>T	gnomAD
E2F1	Q01094	p.Arg373Cys	rs915788985	missense variant	-	NC_000020.11:g.33676929G>A	TOPMed,gnomAD
E2F1	Q01094	p.Arg373His	rs796465642	missense variant	-	NC_000020.11:g.33676928C>T	TOPMed,gnomAD
E2F1	Q01094	p.Arg373Leu	rs796465642	missense variant	-	NC_000020.11:g.33676928C>A	TOPMed,gnomAD
E2F1	Q01094	p.Pro376Leu	rs1387771403	missense variant	-	NC_000020.11:g.33676919G>A	TOPMed,gnomAD
E2F1	Q01094	p.Val378Met	rs371155232	missense variant	-	NC_000020.11:g.33676914C>T	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Val378Leu	rs371155232	missense variant	-	NC_000020.11:g.33676914C>A	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Val378Leu	rs371155232	missense variant	-	NC_000020.11:g.33676914C>G	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Val378Glu	rs1412203811	missense variant	-	NC_000020.11:g.33676913A>T	gnomAD
E2F1	Q01094	p.Ala379Val	rs1160751229	missense variant	-	NC_000020.11:g.33676910G>A	gnomAD
E2F1	Q01094	p.Ala380Val	rs770915873	missense variant	-	NC_000020.11:g.33676907G>A	ExAC,gnomAD
E2F1	Q01094	p.Asp381Asn	rs1453160857	missense variant	-	NC_000020.11:g.33676905C>T	TOPMed,gnomAD
E2F1	Q01094	p.Ser382Leu	rs773280034	missense variant	-	NC_000020.11:g.33676901G>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Glu385Asp	rs748480309	missense variant	-	NC_000020.11:g.33676891C>A	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Glu385Gln	rs1182100979	missense variant	-	NC_000020.11:g.33676893C>G	TOPMed
E2F1	Q01094	p.Arg388Trp	rs779566653	missense variant	-	NC_000020.11:g.33676884G>A	ExAC,gnomAD
E2F1	Q01094	p.Arg388Leu	rs769226220	missense variant	-	NC_000020.11:g.33676883C>A	ExAC,gnomAD
E2F1	Q01094	p.Arg388Gln	rs769226220	missense variant	-	NC_000020.11:g.33676883C>T	ExAC,gnomAD
E2F1	Q01094	p.Glu389Lys	rs560760846	missense variant	-	NC_000020.11:g.33676881C>T	1000Genomes,ExAC,gnomAD
E2F1	Q01094	p.Phe391Leu	rs1333288110	missense variant	-	NC_000020.11:g.33676873G>C	TOPMed,gnomAD
E2F1	Q01094	p.Ser392Tyr	rs760692854	missense variant	-	NC_000020.11:g.33676871G>T	gnomAD
E2F1	Q01094	p.Gly393Ser	rs3213176	missense variant	-	NC_000020.11:g.33676869C>T	1000Genomes,ESP,TOPMed,gnomAD
E2F1	Q01094	p.Leu395Phe	rs1322122446	missense variant	-	NC_000020.11:g.33676863G>A	TOPMed,gnomAD
E2F1	Q01094	p.Glu398Lys	rs751247203	missense variant	-	NC_000020.11:g.33676854C>T	ExAC,gnomAD
E2F1	Q01094	p.Ile400Phe	rs1450772669	missense variant	-	NC_000020.11:g.33676848T>A	TOPMed
E2F1	Q01094	p.Leu402Phe	rs1346488069	missense variant	-	NC_000020.11:g.33676842G>A	gnomAD
E2F1	Q01094	p.His406Asp	rs373228968	missense variant	-	NC_000020.11:g.33676830G>C	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.His406Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33676829T>G	NCI-TCGA
E2F1	Q01094	p.His406Gln	rs553240434	missense variant	-	NC_000020.11:g.33676828G>C	1000Genomes,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.His406Asn	rs373228968	missense variant	-	NC_000020.11:g.33676830G>T	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.His406Tyr	rs373228968	missense variant	-	NC_000020.11:g.33676830G>A	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Glu407Lys	rs1210786388	missense variant	-	NC_000020.11:g.33676827C>T	gnomAD
E2F1	Q01094	p.Asp410Glu	rs1278743140	missense variant	-	NC_000020.11:g.33676816G>C	gnomAD
E2F1	Q01094	p.Asp410Asn	rs760618502	missense variant	-	NC_000020.11:g.33676818C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Tyr411His	rs1234094782	missense variant	-	NC_000020.11:g.33676815A>G	gnomAD
E2F1	Q01094	p.His412Gln	rs1012010770	missense variant	-	NC_000020.11:g.33676810G>T	TOPMed
E2F1	Q01094	p.Phe413Leu	rs535111025	missense variant	-	NC_000020.11:g.33676807G>C	1000Genomes,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Phe413Leu	rs1299418903	missense variant	-	NC_000020.11:g.33676809A>G	gnomAD
E2F1	Q01094	p.Gly414Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33676806C>T	NCI-TCGA
E2F1	Q01094	p.Leu415Phe	rs772350151	missense variant	-	NC_000020.11:g.33676803G>A	ExAC,gnomAD
E2F1	Q01094	p.Glu416Lys	rs1400047527	missense variant	-	NC_000020.11:g.33676800C>T	gnomAD
E2F1	Q01094	p.Glu416Gln	rs1400047527	missense variant	-	NC_000020.11:g.33676800C>G	gnomAD
E2F1	Q01094	p.Gly418Ser	rs774912473	missense variant	-	NC_000020.11:g.33676794C>T	ExAC,gnomAD
E2F1	Q01094	p.Glu419Lys	rs1465634263	missense variant	-	NC_000020.11:g.33676791C>T	TOPMed
E2F1	Q01094	p.Gly420Asp	rs749840514	missense variant	-	NC_000020.11:g.33676787C>T	ExAC,gnomAD
E2F1	Q01094	p.Ile421Val	rs1241680411	missense variant	-	NC_000020.11:g.33676785T>C	gnomAD
E2F1	Q01094	p.Leu424Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.33676775A>C	NCI-TCGA
E2F1	Q01094	p.Phe425ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.33676755_33676773CCCCAAAGTCACAGTCGAA>-	NCI-TCGA
E2F1	Q01094	p.Asp426His	rs777420006	missense variant	-	NC_000020.11:g.33676770C>G	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Asp426Asn	rs777420006	missense variant	-	NC_000020.11:g.33676770C>T	ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Cys427Arg	rs1277250317	missense variant	-	NC_000020.11:g.33676767A>G	gnomAD
E2F1	Q01094	p.Phe429Tyr	rs758107340	missense variant	-	NC_000020.11:g.33676760A>T	ExAC,gnomAD
E2F1	Q01094	p.Gly430Glu	rs1284406098	missense variant	-	NC_000020.11:g.33676757C>T	gnomAD
E2F1	Q01094	p.Asp431Asn	rs1449665581	missense variant	-	NC_000020.11:g.33676755C>T	gnomAD
E2F1	Q01094	p.Thr433Ala	rs1312246924	missense variant	-	NC_000020.11:g.33676749T>C	gnomAD
E2F1	Q01094	p.Thr433Asn	rs151195835	missense variant	-	NC_000020.11:g.33676748G>T	ESP,ExAC,gnomAD
E2F1	Q01094	p.Thr433Ile	rs151195835	missense variant	-	NC_000020.11:g.33676748G>A	ESP,ExAC,gnomAD
E2F1	Q01094	p.Pro434Arg	rs267605891	missense variant	-	NC_000020.11:g.33676745G>C	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Pro434Leu	rs267605891	missense variant	-	NC_000020.11:g.33676745G>A	ESP,ExAC,TOPMed,gnomAD
E2F1	Q01094	p.Leu435TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.33676743G>-	NCI-TCGA
E2F1	Q01094	p.Phe437Leu	COSM6159347	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.33676735G>C	NCI-TCGA Cosmic
E2F1	Q01094	p.Ter438Trp	rs766184341	stop lost	-	NC_000020.11:g.33676732T>C	ExAC,gnomAD
COL4A3	Q01955	p.Met1Leu	RCV000670747	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227164727A>C	ClinVar
COL4A3	Q01955	p.Met1Thr	RCV000673067	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227164728T>C	ClinVar
COL4A3	Q01955	p.Ser2Arg	rs1385822999	missense variant	-	NC_000002.12:g.227164732C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Arg4Gln	rs921905047	missense variant	-	NC_000002.12:g.227164737G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Ala6Val	rs1317800639	missense variant	-	NC_000002.12:g.227164743C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Ala6Ser	rs770024296	missense variant	-	NC_000002.12:g.227164742G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro7Ser	rs776115817	missense variant	-	NC_000002.12:g.227164745C>T	ExAC,gnomAD
COL4A3	Q01955	p.Arg8Lys	rs944020939	missense variant	-	NC_000002.12:g.227164749G>A	TOPMed
COL4A3	Q01955	p.Pro9Leu	rs773820821	missense variant	-	NC_000002.12:g.227164752C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Pro9Ser	rs890999119	missense variant	-	NC_000002.12:g.227164751C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gln10Ter	rs1453590085	stop gained	-	NC_000002.12:g.227164754C>T	gnomAD
COL4A3	Q01955	p.Gln10Arg	rs769170197	missense variant	-	NC_000002.12:g.227164755A>G	ExAC
COL4A3	Q01955	p.Val11Met	rs774004775	missense variant	-	NC_000002.12:g.227164757G>A	ExAC
COL4A3	Q01955	p.Pro15Arg	rs1260966222	missense variant	-	NC_000002.12:g.227164770C>G	TOPMed
COL4A3	Q01955	p.Leu17Gln	rs1286962739	missense variant	-	NC_000002.12:g.227164776T>A	TOPMed
COL4A3	Q01955	p.Leu17Met	rs1392367404	missense variant	-	NC_000002.12:g.227164775C>A	gnomAD
COL4A3	Q01955	p.Leu18Pro	rs767333630	missense variant	-	NC_000002.12:g.227164779T>C	ExAC
COL4A3	Q01955	p.Ala22Glu	rs898269106	missense variant	-	NC_000002.12:g.227164791C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Ala24Gly	RCV000591094	missense variant	-	NC_000002.12:g.227164797C>G	ClinVar
COL4A3	Q01955	p.Ala24Gly	rs184704920	missense variant	-	NC_000002.12:g.227164797C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro25Ser	rs139271412	missense variant	-	NC_000002.12:g.227164799C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro25Ser	RCV000243130	missense variant	-	NC_000002.12:g.227164799C>T	ClinVar
COL4A3	Q01955	p.Ala26Glu	rs1361533883	missense variant	-	NC_000002.12:g.227164803C>A	TOPMed
COL4A3	Q01955	p.Ala26Thr	rs1298369205	missense variant	-	NC_000002.12:g.227164802G>A	gnomAD
COL4A3	Q01955	p.Ala27Asp	rs1244132148	missense variant	-	NC_000002.12:g.227164806C>A	gnomAD
COL4A3	Q01955	p.Ala27Thr	rs1327569810	missense variant	-	NC_000002.12:g.227164805G>A	gnomAD
COL4A3	Q01955	p.Lys29Met	rs999240932	missense variant	-	NC_000002.12:g.227164812A>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gly30Arg	RCV000681943	missense variant	-	NC_000002.12:g.227237968G>C	ClinVar
COL4A3	Q01955	p.Asp35His	COSM720443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227237983G>C	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly37Asp	COSM1565019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227237990G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gln38Glu	rs201607115	missense variant	-	NC_000002.12:g.227237992C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln38Glu	RCV000380561	missense variant	Alport syndrome	NC_000002.12:g.227237992C>G	ClinVar
COL4A3	Q01955	p.Gln38His	rs772640950	missense variant	-	NC_000002.12:g.227237994G>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gln38Arg	rs774982255	missense variant	-	NC_000002.12:g.227237993A>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Cys39Ser	rs1463080946	missense variant	-	NC_000002.12:g.227237995T>A	TOPMed
COL4A3	Q01955	p.Cys41Tyr	rs921708396	missense variant	-	NC_000002.12:g.227238002G>A	gnomAD
COL4A3	Q01955	p.Asp42Gly	rs747725232	missense variant	-	NC_000002.12:g.227238005A>G	ExAC,gnomAD
COL4A3	Q01955	p.Gly43Arg	RCV000283989	missense variant	Alport syndrome	NC_000002.12:g.227238007G>C	ClinVar
COL4A3	Q01955	p.Gly43Arg	RCV000576763	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227238007G>C	ClinVar
COL4A3	Q01955	p.Gly43Arg	RCV000253119	missense variant	-	NC_000002.12:g.227238007G>C	ClinVar
COL4A3	Q01955	p.Gly43Arg	rs13424243	missense variant	-	NC_000002.12:g.227238007G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly43Glu	rs776294835	missense variant	-	NC_000002.12:g.227238008G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly43Arg	rs13424243	missense variant	-	NC_000002.12:g.227238007G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly43Trp	rs13424243	missense variant	-	NC_000002.12:g.227238007G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala44Asp	rs759316147	missense variant	-	NC_000002.12:g.227238011C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Lys45Arg	COSM1017311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227238014A>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly46Arg	rs200866082	missense variant	-	NC_000002.12:g.227238016G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Glu47Gln	rs1441187266	missense variant	-	NC_000002.12:g.227238019G>C	gnomAD
COL4A3	Q01955	p.Glu47Gly	rs370204395	missense variant	-	NC_000002.12:g.227238020A>G	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Lys48Ter	rs1207493576	stop gained	-	NC_000002.12:g.227238022A>T	TOPMed
COL4A3	Q01955	p.Lys48Arg	rs1364744117	missense variant	-	NC_000002.12:g.227238023A>G	gnomAD
COL4A3	Q01955	p.Gly49Arg	rs1553749403	missense variant	-	NC_000002.12:g.227240143G>A	-
COL4A3	Q01955	p.Gly49Arg	RCV000674278	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227240143G>A	ClinVar
COL4A3	Q01955	p.Glu50Lys	rs776332720	missense variant	-	NC_000002.12:g.227240146G>A	ExAC,gnomAD
COL4A3	Q01955	p.Phe53Leu	rs1217941846	missense variant	-	NC_000002.12:g.227240157T>G	TOPMed,gnomAD
COL4A3	Q01955	p.Pro54Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227240159C>T	NCI-TCGA
COL4A3	Q01955	p.Pro54Ser	COSM4469623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227240158C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro56Thr	rs1204689662	missense variant	-	NC_000002.12:g.227240164C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Pro56Ser	rs1204689662	missense variant	-	NC_000002.12:g.227240164C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Pro57Leu	rs759289956	missense variant	-	NC_000002.12:g.227240168C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly58Ser	RCV000681942	missense variant	-	NC_000002.12:g.227240170G>A	ClinVar
COL4A3	Q01955	p.Gly58Ser	rs184730597	missense variant	-	NC_000002.12:g.227240170G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly58Asp	rs1007587977	missense variant	-	NC_000002.12:g.227240171G>A	TOPMed
COL4A3	Q01955	p.Gly58ValPheSerTerUnkUnk	COSM3047137	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227240164C>-	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro60Ser	rs1481014951	missense variant	-	NC_000002.12:g.227240176C>T	gnomAD
COL4A3	Q01955	p.Gln62Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227240182C>A	NCI-TCGA
COL4A3	Q01955	p.Gly64Arg	rs917643323	missense variant	-	NC_000002.12:g.227240188G>A	gnomAD
COL4A3	Q01955	p.Gly64Arg	rs917643323	missense variant	-	NC_000002.12:g.227240188G>C	gnomAD
COL4A3	Q01955	p.Thr66Ser	rs1411699280	missense variant	-	NC_000002.12:g.227240194A>T	gnomAD
COL4A3	Q01955	p.Thr66Ile	rs760798559	missense variant	-	NC_000002.12:g.227240195C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro68Arg	rs766573165	missense variant	-	NC_000002.12:g.227240201C>G	ExAC,gnomAD
COL4A3	Q01955	p.Glu69Ala	rs755344973	missense variant	-	NC_000002.12:g.227240204A>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly70Val	rs779439998	missense variant	-	NC_000002.12:g.227240207G>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly73Glu	rs758977038	missense variant	-	NC_000002.12:g.227240216G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro74Leu	RCV000374898	missense variant	Alport syndrome	NC_000002.12:g.227240219C>T	ClinVar
COL4A3	Q01955	p.Pro74Leu	RCV000735745	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227240219C>T	ClinVar
COL4A3	Q01955	p.Pro74Leu	rs373975901	missense variant	-	NC_000002.12:g.227240219C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln75His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227240223G>T	NCI-TCGA
COL4A3	Q01955	p.Gln75Lys	rs1288558822	missense variant	-	NC_000002.12:g.227240221C>A	gnomAD
COL4A3	Q01955	p.Gly76Glu	rs985132802	missense variant	-	NC_000002.12:g.227240225G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly76Val	rs985132802	missense variant	-	NC_000002.12:g.227240225G>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gly76Arg	rs1000732481	missense variant	-	NC_000002.12:g.227240224G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Pro77His	rs1049642928	missense variant	-	NC_000002.12:g.227240228C>A	gnomAD
COL4A3	Q01955	p.Lys78Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227240231A>C	NCI-TCGA
COL4A3	Q01955	p.Lys78Gln	rs760637313	missense variant	-	NC_000002.12:g.227240230A>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro81Thr	rs765487317	missense variant	-	NC_000002.12:g.227244326C>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro81Ser	rs765487317	missense variant	-	NC_000002.12:g.227244326C>T	ExAC,gnomAD
COL4A3	Q01955	p.Leu83Phe	rs372621387	missense variant	-	NC_000002.12:g.227244332C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu83Ile	rs372621387	missense variant	-	NC_000002.12:g.227244332C>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu83Val	rs372621387	missense variant	-	NC_000002.12:g.227244332C>G	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu83His	rs778209649	missense variant	-	NC_000002.12:g.227244333T>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro84Gln	rs1407306739	missense variant	-	NC_000002.12:g.227244336C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Pro84Thr	RCV000735648	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227244335C>A	ClinVar
COL4A3	Q01955	p.Pro84Ser	rs572059687	missense variant	-	NC_000002.12:g.227244335C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro84Thr	rs572059687	missense variant	-	NC_000002.12:g.227244335C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr87Met	rs377136253	missense variant	-	NC_000002.12:g.227244345C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr87Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227244345C>A	NCI-TCGA
COL4A3	Q01955	p.Gly88Cys	rs1361337681	missense variant	-	NC_000002.12:g.227244347G>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gly88Ser	rs1361337681	missense variant	-	NC_000002.12:g.227244347G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Ser89Phe	rs1454096543	missense variant	-	NC_000002.12:g.227244351C>T	gnomAD
COL4A3	Q01955	p.Gly91Asp	rs1414411811	missense variant	-	NC_000002.12:g.227244357G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Val92Leu	rs200873401	missense variant	-	NC_000002.12:g.227244359G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val92Glu	rs768404745	missense variant	-	NC_000002.12:g.227244360T>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val92Ile	rs200873401	missense variant	-	NC_000002.12:g.227244359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg93Trp	rs1208980444	missense variant	-	NC_000002.12:g.227244362A>T	TOPMed
COL4A3	Q01955	p.Gly94Glu	rs780287240	missense variant	-	NC_000002.12:g.227244952G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly94Val	rs780287240	missense variant	-	NC_000002.12:g.227244952G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly94Ala	rs780287240	missense variant	-	NC_000002.12:g.227244952G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile95Leu	rs201222896	missense variant	-	NC_000002.12:g.227244954A>C	TOPMed,gnomAD
COL4A3	Q01955	p.Ile95Val	COSM297862	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227244954A>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly97Arg	rs1381056489	missense variant	-	NC_000002.12:g.227244960G>A	gnomAD
COL4A3	Q01955	p.Leu98Trp	rs768983795	missense variant	-	NC_000002.12:g.227244964T>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro99Ser	rs774434848	missense variant	-	NC_000002.12:g.227244966C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly100Arg	rs762282540	missense variant	-	NC_000002.12:g.227244969G>A	ExAC,gnomAD
COL4A3	Q01955	p.Ser102Pro	rs375028468	missense variant	-	NC_000002.12:g.227244975T>C	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly106Ala	rs1043352257	missense variant	-	NC_000002.12:g.227244988G>C	TOPMed
COL4A3	Q01955	p.Thr110Ile	rs543390575	missense variant	-	NC_000002.12:g.227245958C>T	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Thr110Ser	rs543390575	missense variant	-	NC_000002.12:g.227245958C>G	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Gly112Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227245964G>A	NCI-TCGA
COL4A3	Q01955	p.Thr114Ser	rs1469741957	missense variant	-	NC_000002.12:g.227245970C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Thr114Asn	rs1469741957	missense variant	-	NC_000002.12:g.227245970C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Thr114Ile	rs1469741957	missense variant	-	NC_000002.12:g.227245970C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gly115Arg	rs202147112	missense variant	-	NC_000002.12:g.227245972G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly115Ala	rs1408412826	missense variant	-	NC_000002.12:g.227245973G>C	gnomAD
COL4A3	Q01955	p.Gly115Arg	RCV000735661	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227245972G>A	ClinVar
COL4A3	Q01955	p.Pro116Ter	RCV000669553	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227245974del	ClinVar
COL4A3	Q01955	p.Pro116Thr	rs115324397	missense variant	-	NC_000002.12:g.227245975C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro116Ser	rs115324397	missense variant	-	NC_000002.12:g.227245975C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro116Thr	RCV000710817	missense variant	-	NC_000002.12:g.227245975C>A	ClinVar
COL4A3	Q01955	p.Gly118Arg	RCV000668134	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227245981G>A	ClinVar
COL4A3	Q01955	p.Gly118Arg	rs1293137291	missense variant	-	NC_000002.12:g.227245981G>A	TOPMed
COL4A3	Q01955	p.Gly121Ser	RCV000625594	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227245990G>A	ClinVar
COL4A3	Q01955	p.Gly121Asp	rs1230199187	missense variant	-	NC_000002.12:g.227245991G>A	TOPMed
COL4A3	Q01955	p.Gly121Ser	rs778886174	missense variant	-	NC_000002.12:g.227245990G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val122Ala	rs766935732	missense variant	-	NC_000002.12:g.227245994T>C	TOPMed
COL4A3	Q01955	p.Gly124Glu	rs748188535	missense variant	-	NC_000002.12:g.227246000G>A	ExAC,gnomAD
COL4A3	Q01955	p.Ser126Ile	rs758630119	missense variant	-	NC_000002.12:g.227246006G>T	ExAC,gnomAD
COL4A3	Q01955	p.Ser126Asn	rs758630119	missense variant	-	NC_000002.12:g.227246006G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly127Arg	rs1221637579	missense variant	-	NC_000002.12:g.227246008G>C	gnomAD
COL4A3	Q01955	p.Lys129Thr	rs886055737	missense variant	-	NC_000002.12:g.227246015A>C	-
COL4A3	Q01955	p.Lys129Thr	RCV000280473	missense variant	Alport syndrome	NC_000002.12:g.227246015A>C	ClinVar
COL4A3	Q01955	p.Gly130Ser	rs1285110083	missense variant	-	NC_000002.12:g.227246685G>A	gnomAD
COL4A3	Q01955	p.Glu131Ter	RCV000674775	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227246688G>T	ClinVar
COL4A3	Q01955	p.Glu131Ter	rs1346138010	stop gained	-	NC_000002.12:g.227246688G>T	TOPMed,gnomAD
COL4A3	Q01955	p.Glu131Asp	rs1213416591	missense variant	-	NC_000002.12:g.227246690G>C	gnomAD
COL4A3	Q01955	p.Gln132Ter	rs372041612	stop gained	-	NC_000002.12:g.227246691C>T	ESP,ExAC,gnomAD
COL4A3	Q01955	p.Gly133Val	rs750189238	missense variant	-	NC_000002.12:g.227246695G>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly133Arg	rs1490478725	missense variant	-	NC_000002.12:g.227246694G>A	TOPMed
COL4A3	Q01955	p.Pro138Arg	rs766279179	missense variant	-	NC_000002.12:g.227246710C>G	ExAC,gnomAD
COL4A3	Q01955	p.Thr140Ile	rs555034953	missense variant	-	NC_000002.12:g.227246716C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu141Pro	RCV000576655	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227246719T>C	ClinVar
COL4A3	Q01955	p.Leu141Gln	rs10178458	missense variant	-	NC_000002.12:g.227246719T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu141Pro	rs10178458	missense variant	-	NC_000002.12:g.227246719T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu141Pro	RCV000710820	missense variant	-	NC_000002.12:g.227246719T>C	ClinVar
COL4A3	Q01955	p.Leu141Pro	RCV000399711	missense variant	Alport syndrome	NC_000002.12:g.227246719T>C	ClinVar
COL4A3	Q01955	p.Leu141Pro	RCV000245465	missense variant	-	NC_000002.12:g.227246719T>C	ClinVar
COL4A3	Q01955	p.Gly142Ser	rs1185966176	missense variant	-	NC_000002.12:g.227246721G>A	gnomAD
COL4A3	Q01955	p.Pro144Gln	rs1430429868	missense variant	-	NC_000002.12:g.227246728C>A	gnomAD
COL4A3	Q01955	p.Pro147Leu	rs781415019	missense variant	-	NC_000002.12:g.227246737C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro147Arg	rs781415019	missense variant	-	NC_000002.12:g.227246737C>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly148Val	rs775373641	missense variant	-	NC_000002.12:g.227247559G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly148Val	RCV000786994	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227247559G>T	ClinVar
COL4A3	Q01955	p.Ala149Thr	rs1179349925	missense variant	-	NC_000002.12:g.227247561G>A	gnomAD
COL4A3	Q01955	p.Leu152Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227247571T>C	NCI-TCGA
COL4A3	Q01955	p.Gly154Arg	rs761846274	missense variant	-	NC_000002.12:g.227247576G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly157Arg	rs764451365	missense variant	-	NC_000002.12:g.227248443G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly157Arg	RCV000665296	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227248443G>C	ClinVar
COL4A3	Q01955	p.Gly157Arg	RCV000730376	missense variant	-	NC_000002.12:g.227248443G>C	ClinVar
COL4A3	Q01955	p.Ala158Val	rs1384951637	missense variant	-	NC_000002.12:g.227248447C>T	gnomAD
COL4A3	Q01955	p.Pro159Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227248449C>G	NCI-TCGA
COL4A3	Q01955	p.Ala160Asp	rs1380544231	missense variant	-	NC_000002.12:g.227248453C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Lys161Glu	rs369945847	missense variant	-	NC_000002.12:g.227248455A>G	ESP,ExAC,gnomAD
COL4A3	Q01955	p.Glu162Gly	rs6436669	missense variant	-	NC_000002.12:g.227248459A>G	UniProt,dbSNP
COL4A3	Q01955	p.Glu162Gly	VAR_011203	missense variant	-	NC_000002.12:g.227248459A>G	UniProt
COL4A3	Q01955	p.Glu162Gly	rs6436669	missense variant	-	NC_000002.12:g.227248459A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Glu162Gly	RCV000576783	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227248459A>G	ClinVar
COL4A3	Q01955	p.Glu162Gly	RCV000242416	missense variant	-	NC_000002.12:g.227248459A>G	ClinVar
COL4A3	Q01955	p.Glu162Gly	RCV000710826	missense variant	-	NC_000002.12:g.227248459A>G	ClinVar
COL4A3	Q01955	p.Glu162Gly	RCV000295878	missense variant	Alport syndrome	NC_000002.12:g.227248459A>G	ClinVar
COL4A3	Q01955	p.Asp164Glu	rs1313252073	missense variant	-	NC_000002.12:g.227248466T>A	TOPMed,gnomAD
COL4A3	Q01955	p.Asp164Asn	rs1452221624	missense variant	-	NC_000002.12:g.227248464G>A	gnomAD
COL4A3	Q01955	p.Ile165Thr	rs144036466	missense variant	-	NC_000002.12:g.227248468T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile165Met	rs745540374	missense variant	-	NC_000002.12:g.227248469A>G	ExAC,gnomAD
COL4A3	Q01955	p.Glu166Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227248470G>T	NCI-TCGA
COL4A3	Q01955	p.Glu166Gly	rs369769279	missense variant	-	NC_000002.12:g.227248471A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu167Pro	rs779826337	missense variant	-	NC_000002.12:g.227248474T>C	ExAC,gnomAD
COL4A3	Q01955	p.Leu167Val	rs1156342964	missense variant	-	NC_000002.12:g.227248473C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Ala169Pro	rs768701718	missense variant	-	NC_000002.12:g.227248479G>C	ExAC,gnomAD
COL4A3	Q01955	p.Lys170Asn	rs774154890	missense variant	-	NC_000002.12:g.227248484A>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Lys170Asn	rs774154890	missense variant	-	NC_000002.12:g.227248484A>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly171Arg	rs1172581939	missense variant	-	NC_000002.12:g.227248485G>C	TOPMed
COL4A3	Q01955	p.Gly171Ala	rs1310205680	missense variant	-	NC_000002.12:g.227248486G>C	TOPMed
COL4A3	Q01955	p.Gly171Asp	rs1310205680	missense variant	-	NC_000002.12:g.227248486G>A	TOPMed
COL4A3	Q01955	p.Asp172Asn	rs377575924	missense variant	-	NC_000002.12:g.227248488G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp172Glu	rs759455097	missense variant	-	NC_000002.12:g.227248490C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly174Arg	RCV000517824	missense variant	-	NC_000002.12:g.227248494G>A	ClinVar
COL4A3	Q01955	p.Gly174Arg	rs1014839148	missense variant	-	NC_000002.12:g.227248494G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly174Glu	rs1469388795	missense variant	-	NC_000002.12:g.227248495G>A	gnomAD
COL4A3	Q01955	p.Pro176Arg	rs759869958	missense variant	-	NC_000002.12:g.227248501C>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala178Thr	rs188324379	missense variant	-	NC_000002.12:g.227248506G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro179Leu	COSM1306494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227248510C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly180Arg	rs1318595759	missense variant	-	NC_000002.12:g.227248512G>A	TOPMed
COL4A3	Q01955	p.Pro181Leu	rs775936375	missense variant	-	NC_000002.12:g.227248516C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro181His	rs775936375	missense variant	-	NC_000002.12:g.227248516C>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly183Asp	rs775544184	missense variant	-	NC_000002.12:g.227251141G>A	ExAC,gnomAD
COL4A3	Q01955	p.Leu184Phe	rs763422994	missense variant	-	NC_000002.12:g.227251145G>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly186ThrProGlyPheProGlyLeuProGly	NCI-TCGA novel	insertion	-	NC_000002.12:g.227251139_227251140insGGTTTGCCAGGCACTCCAGGTTTTCCT	NCI-TCGA
COL4A3	Q01955	p.Gly186Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227251150G>A	NCI-TCGA
COL4A3	Q01955	p.Gly186Ser	COSM5590317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227251149G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Phe190Ile	rs371173786	missense variant	-	NC_000002.12:g.227251161T>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Phe190Leu	rs371173786	missense variant	-	NC_000002.12:g.227251161T>C	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro191Ala	rs1356975221	missense variant	-	NC_000002.12:g.227251164C>G	TOPMed
COL4A3	Q01955	p.Pro193Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227251170C>G	NCI-TCGA
COL4A3	Q01955	p.Pro193Arg	rs1382090125	missense variant	-	NC_000002.12:g.227251171C>G	TOPMed
COL4A3	Q01955	p.Val194Leu	rs749989473	missense variant	-	NC_000002.12:g.227251173G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val194Ile	rs749989473	missense variant	-	NC_000002.12:g.227251173G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro197Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227251182C>T	NCI-TCGA
COL4A3	Q01955	p.Pro197Arg	rs1308419924	missense variant	-	NC_000002.12:g.227251183C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Gly198Ser	rs1403052940	missense variant	-	NC_000002.12:g.227251185G>A	gnomAD
COL4A3	Q01955	p.Pro199Thr	COSM720438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227251188C>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro200Leu	rs368480491	missense variant	-	NC_000002.12:g.227251192C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly201Glu	rs1192698671	missense variant	-	NC_000002.12:g.227251195G>A	TOPMed
COL4A3	Q01955	p.Phe202Ser	rs1343871396	missense variant	-	NC_000002.12:g.227251198T>C	gnomAD
COL4A3	Q01955	p.Phe202Leu	rs754613272	missense variant	-	NC_000002.12:g.227251197T>C	ExAC,gnomAD
COL4A3	Q01955	p.Pro206Thr	rs1286616395	missense variant	-	NC_000002.12:g.227251342C>A	gnomAD
COL4A3	Q01955	p.Gly207Val	rs1366863434	missense variant	-	NC_000002.12:g.227251346G>T	gnomAD
COL4A3	Q01955	p.Ala208Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227251348G>A	NCI-TCGA
COL4A3	Q01955	p.Pro211Ala	rs768853275	missense variant	-	NC_000002.12:g.227251357C>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro211Ser	rs768853275	missense variant	-	NC_000002.12:g.227251357C>T	ExAC,gnomAD
COL4A3	Q01955	p.Arg212Thr	rs774589394	missense variant	-	NC_000002.12:g.227251361G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly213Arg	RCV000518723	missense variant	-	NC_000002.12:g.227251363G>A	ClinVar
COL4A3	Q01955	p.Gly213Arg	rs1553752192	missense variant	-	NC_000002.12:g.227251363G>A	-
COL4A3	Q01955	p.Pro214Ser	rs1382453187	missense variant	-	NC_000002.12:g.227251366C>T	gnomAD
COL4A3	Q01955	p.Pro214His	rs914548534	missense variant	-	NC_000002.12:g.227251367C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly216Ser	rs1169752185	missense variant	-	NC_000002.12:g.227253296G>A	TOPMed
COL4A3	Q01955	p.His217Tyr	rs1262681864	missense variant	-	NC_000002.12:g.227253299C>T	gnomAD
COL4A3	Q01955	p.Gly219Cys	rs1316826351	missense variant	-	NC_000002.12:g.227253305G>T	gnomAD
COL4A3	Q01955	p.Glu220Lys	rs779098331	missense variant	-	NC_000002.12:g.227253308G>A	ExAC,gnomAD
COL4A3	Q01955	p.Val222Met	rs748548607	missense variant	-	NC_000002.12:g.227253314G>A	ExAC,gnomAD
COL4A3	Q01955	p.Ile223Thr	rs772407219	missense variant	-	NC_000002.12:g.227253318T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.His225Arg	rs1269093075	missense variant	-	NC_000002.12:g.227253324A>G	TOPMed
COL4A3	Q01955	p.His225Gln	rs367635426	missense variant	-	NC_000002.12:g.227253325T>G	ESP,ExAC,gnomAD
COL4A3	Q01955	p.Lys226Glu	rs771403339	missense variant	-	NC_000002.12:g.227253326A>G	ExAC,gnomAD
COL4A3	Q01955	p.Gly227Arg	COSM3578458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227253329G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Glu228Gln	rs1203851108	missense variant	-	NC_000002.12:g.227253332G>C	TOPMed
COL4A3	Q01955	p.Arg229Leu	RCV000658171	missense variant	-	NC_000002.12:g.227253336G>T	ClinVar
COL4A3	Q01955	p.Arg229Trp	rs759074046	missense variant	-	NC_000002.12:g.227253335C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg229Leu	rs188942711	missense variant	-	NC_000002.12:g.227253336G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg229Gln	rs188942711	missense variant	-	NC_000002.12:g.227253336G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly230Val	rs1387958698	missense variant	-	NC_000002.12:g.227253562G>T	gnomAD
COL4A3	Q01955	p.Val231Ala	rs747868845	missense variant	-	NC_000002.12:g.227253565T>C	ExAC,gnomAD
COL4A3	Q01955	p.Val231Met	rs1455775497	missense variant	-	NC_000002.12:g.227253564G>A	gnomAD
COL4A3	Q01955	p.Gly233Glu	rs1453982069	missense variant	-	NC_000002.12:g.227253571G>A	TOPMed
COL4A3	Q01955	p.Leu234Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227253574T>C	NCI-TCGA
COL4A3	Q01955	p.Thr235Lys	rs746794832	missense variant	-	NC_000002.12:g.227253577C>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro237Ser	rs1310347317	missense variant	-	NC_000002.12:g.227253582C>T	gnomAD
COL4A3	Q01955	p.Pro237Thr	COSM720436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227253582C>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro238Leu	rs776059644	missense variant	-	NC_000002.12:g.227253586C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro238Arg	rs776059644	missense variant	-	NC_000002.12:g.227253586C>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro238Ser	rs1404300672	missense variant	-	NC_000002.12:g.227253585C>T	TOPMed
COL4A3	Q01955	p.Pro240Ter	RCV000669524	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227253586dup	ClinVar
COL4A3	Q01955	p.Pro241Ser	rs1210114948	missense variant	-	NC_000002.12:g.227253594C>T	gnomAD
COL4A3	Q01955	p.Pro241Ala	rs1210114948	missense variant	-	NC_000002.12:g.227253594C>G	gnomAD
COL4A3	Q01955	p.Val244Ala	rs774226506	missense variant	-	NC_000002.12:g.227253604T>C	ExAC,gnomAD
COL4A3	Q01955	p.Ile245Asn	rs767620544	missense variant	-	NC_000002.12:g.227253607T>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile245Thr	rs767620544	missense variant	-	NC_000002.12:g.227253607T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile245Val	rs762108915	missense variant	-	NC_000002.12:g.227253606A>G	ExAC,gnomAD
COL4A3	Q01955	p.Val246Met	rs756512062	missense variant	-	NC_000002.12:g.227253609G>A	ExAC,gnomAD
COL4A3	Q01955	p.Val246Leu	rs756512062	missense variant	-	NC_000002.12:g.227253609G>C	ExAC,gnomAD
COL4A3	Q01955	p.Val246Leu	rs756512062	missense variant	-	NC_000002.12:g.227253609G>T	ExAC,gnomAD
COL4A3	Q01955	p.Thr247Asn	rs1425969633	missense variant	-	NC_000002.12:g.227253613C>A	gnomAD
COL4A3	Q01955	p.Leu248Val	rs910343678	missense variant	-	NC_000002.12:g.227253615C>G	TOPMed
COL4A3	Q01955	p.Thr249Ile	rs1246728008	missense variant	-	NC_000002.12:g.227253619C>T	TOPMed
COL4A3	Q01955	p.Thr249Ser	rs976897521	missense variant	-	NC_000002.12:g.227253618A>T	TOPMed,gnomAD
COL4A3	Q01955	p.Thr249Ala	rs976897521	missense variant	-	NC_000002.12:g.227253618A>G	TOPMed,gnomAD
COL4A3	Q01955	p.Asp252Glu	RCV000516996	missense variant	-	NC_000002.12:g.227253629T>A	ClinVar
COL4A3	Q01955	p.Asp252Glu	rs1412919917	missense variant	-	NC_000002.12:g.227253629T>A	TOPMed,gnomAD
COL4A3	Q01955	p.Asn253Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227253630A>G	NCI-TCGA
COL4A3	Q01955	p.Arg254Lys	rs755505644	missense variant	-	NC_000002.12:g.227253634G>A	ExAC,gnomAD
COL4A3	Q01955	p.Arg254Thr	rs755505644	missense variant	-	NC_000002.12:g.227253634G>C	ExAC,gnomAD
COL4A3	Q01955	p.Thr255Met	RCV000770773	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227253637C>T	ClinVar
COL4A3	Q01955	p.Thr255Met	rs573527081	missense variant	-	NC_000002.12:g.227253637C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr255Lys	rs573527081	missense variant	-	NC_000002.12:g.227253637C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp256Glu	rs966583523	missense variant	-	NC_000002.12:g.227254114C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Asp256Gly	rs756835803	missense variant	-	NC_000002.12:g.227254113A>G	ExAC,gnomAD
COL4A3	Q01955	p.Leu257Ile	COSM1017318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227254115C>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Lys258Arg	rs999826591	missense variant	-	NC_000002.12:g.227254119A>G	gnomAD
COL4A3	Q01955	p.Gly259Arg	rs780977535	missense variant	-	NC_000002.12:g.227254121G>A	ExAC,gnomAD
COL4A3	Q01955	p.Glu260Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227254125A>G	NCI-TCGA
COL4A3	Q01955	p.Lys261ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227254125A>-	NCI-TCGA
COL4A3	Q01955	p.Lys261Arg	rs769837137	missense variant	-	NC_000002.12:g.227254128A>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly262Arg	rs866653520	missense variant	-	NC_000002.12:g.227254130G>A	-
COL4A3	Q01955	p.Asp263Glu	rs779821655	missense variant	-	NC_000002.12:g.227254135C>G	ExAC,gnomAD
COL4A3	Q01955	p.Gly265Arg	rs374787000	missense variant	-	NC_000002.12:g.227254139G>A	ESP
COL4A3	Q01955	p.Gly265Glu	COSM3578459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227254140G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Met267Thr	rs772064733	missense variant	-	NC_000002.12:g.227254146T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met267Val	rs748304803	missense variant	-	NC_000002.12:g.227254145A>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met267Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227254147G>T	NCI-TCGA
COL4A3	Q01955	p.Gly268Asp	rs1448108531	missense variant	-	NC_000002.12:g.227254149G>A	TOPMed
COL4A3	Q01955	p.Glu269Lys	RCV000391399	missense variant	Alport syndrome	NC_000002.12:g.227254151G>A	ClinVar
COL4A3	Q01955	p.Glu269Lys	rs80109666	missense variant	-	NC_000002.12:g.227254151G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro270Thr	rs1428766417	missense variant	-	NC_000002.12:g.227254154C>A	TOPMed
COL4A3	Q01955	p.Pro273Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227254163C>A	NCI-TCGA
COL4A3	Q01955	p.Pro275Thr	rs1294995743	missense variant	-	NC_000002.12:g.227254169C>A	gnomAD
COL4A3	Q01955	p.Pro275Leu	rs372626966	missense variant	-	NC_000002.12:g.227254170C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser276Leu	rs1219659689	missense variant	-	NC_000002.12:g.227254173C>T	TOPMed
COL4A3	Q01955	p.Leu278Gln	COSM6090716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227254660T>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro279Ter	RCV000490447	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227254660dup	ClinVar
COL4A3	Q01955	p.Pro279Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227254662C>A	NCI-TCGA
COL4A3	Q01955	p.Pro279Ala	COSM3838759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227254662C>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly280Glu	rs551480904	missense variant	-	NC_000002.12:g.227254666G>A	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Gly280Val	rs551480904	missense variant	-	NC_000002.12:g.227254666G>T	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Tyr283His	rs1216183431	missense variant	-	NC_000002.12:g.227254674T>C	gnomAD
COL4A3	Q01955	p.Tyr283Cys	rs1236660987	missense variant	-	NC_000002.12:g.227254675A>G	gnomAD
COL4A3	Q01955	p.Tyr283Phe	rs1236660987	missense variant	-	NC_000002.12:g.227254675A>T	gnomAD
COL4A3	Q01955	p.Glu286Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227254683G>C	NCI-TCGA
COL4A3	Q01955	p.Ala289Val	rs775885177	missense variant	-	NC_000002.12:g.227254693C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro290Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227254695C>A	NCI-TCGA
COL4A3	Q01955	p.Gly291Glu	RCV000681788	missense variant	-	NC_000002.12:g.227254699G>A	ClinVar
COL4A3	Q01955	p.Gly291Ala	rs1425230568	missense variant	-	NC_000002.12:g.227254699G>C	TOPMed
COL4A3	Q01955	p.Gly294Asp	RCV000519688	missense variant	-	NC_000002.12:g.227254708G>A	ClinVar
COL4A3	Q01955	p.Gly294Asp	rs1553753137	missense variant	-	NC_000002.12:g.227254708G>A	-
COL4A3	Q01955	p.Gly297Glu	rs1422638161	missense variant	-	NC_000002.12:g.227256027G>A	gnomAD
COL4A3	Q01955	p.Gly297Glu	RCV000664514	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227256027G>A	ClinVar
COL4A3	Q01955	p.Gly297Glu	VAR_011204	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
COL4A3	Q01955	p.Lys298Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227256031A>T	NCI-TCGA
COL4A3	Q01955	p.Gly300Arg	rs772708743	missense variant	-	NC_000002.12:g.227256035G>A	ExAC,gnomAD
COL4A3	Q01955	p.Asp302His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227256041G>C	NCI-TCGA
COL4A3	Q01955	p.Gly303Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227256045G>A	NCI-TCGA
COL4A3	Q01955	p.Val304Phe	rs766043773	missense variant	-	NC_000002.12:g.227256047G>T	ExAC,gnomAD
COL4A3	Q01955	p.Val304Ile	rs766043773	missense variant	-	NC_000002.12:g.227256047G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro305Ser	rs754792573	missense variant	-	NC_000002.12:g.227256050C>T	ExAC,gnomAD
COL4A3	Q01955	p.Phe307Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227256057T>C	NCI-TCGA
COL4A3	Q01955	p.Pro308Ser	rs765318949	missense variant	-	NC_000002.12:g.227256059C>T	ExAC,gnomAD
COL4A3	Q01955	p.Glu311Asp	COSM1405950	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227256070G>C	NCI-TCGA Cosmic
COL4A3	Q01955	p.Val313Ala	rs765155738	missense variant	-	NC_000002.12:g.227256347T>C	ExAC,gnomAD
COL4A3	Q01955	p.Lys314Thr	rs752474805	missense variant	-	NC_000002.12:g.227256350A>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly315Val	rs1287109722	missense variant	-	NC_000002.12:g.227256353G>T	gnomAD
COL4A3	Q01955	p.Arg317Ter	RCV000668719	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227256358_227256359del	ClinVar
COL4A3	Q01955	p.Gly318Asp	RCV000681798	missense variant	-	NC_000002.12:g.227256362G>A	ClinVar
COL4A3	Q01955	p.Phe319Leu	rs1024211291	missense variant	-	NC_000002.12:g.227256366C>A	TOPMed
COL4A3	Q01955	p.Leu322Ile	COSM442418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227256373T>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly324Asp	rs566993466	missense variant	-	NC_000002.12:g.227256380G>A	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Glu325Ala	rs1401162986	missense variant	-	NC_000002.12:g.227256383A>C	TOPMed
COL4A3	Q01955	p.Glu325Gly	COSM4092076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227256383A>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Asp326Asn	rs55703767	missense variant	-	NC_000002.12:g.227256385G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp326Tyr	RCV000306912	missense variant	Alport syndrome	NC_000002.12:g.227256385G>T	ClinVar
COL4A3	Q01955	p.Asp326Tyr	rs55703767	missense variant	-	NC_000002.12:g.227256385G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp326Tyr	rs55703767	missense variant	-	NC_000002.12:g.227256385G>T	UniProt,dbSNP
COL4A3	Q01955	p.Asp326Tyr	VAR_011205	missense variant	-	NC_000002.12:g.227256385G>T	UniProt
COL4A3	Q01955	p.Gly327Ala	rs779948497	missense variant	-	NC_000002.12:g.227256389G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly330Arg	rs1435232414	missense variant	-	NC_000002.12:g.227257603G>C	gnomAD
COL4A3	Q01955	p.Gln331His	rs369701669	missense variant	-	NC_000002.12:g.227257608G>C	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln331His	rs369701669	missense variant	-	NC_000002.12:g.227257608G>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln331Ter	rs768527987	stop gained	-	NC_000002.12:g.227257606C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly333Arg	rs761819520	missense variant	-	NC_000002.12:g.227257612G>A	ExAC
COL4A3	Q01955	p.Gly333Ala	rs1057519376	missense variant	-	NC_000002.12:g.227257613G>C	-
COL4A3	Q01955	p.Gly333Ala	RCV000416934	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227257613G>C	ClinVar
COL4A3	Q01955	p.Asp334His	rs767340735	missense variant	-	NC_000002.12:g.227257615G>C	ExAC,gnomAD
COL4A3	Q01955	p.Asp334Asn	rs767340735	missense variant	-	NC_000002.12:g.227257615G>A	ExAC,gnomAD
COL4A3	Q01955	p.Asp334Gly	COSM1017321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227257616A>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly336Cys	RCV000681935	missense variant	-	NC_000002.12:g.227257621G>T	ClinVar
COL4A3	Q01955	p.Pro337His	rs934552387	missense variant	-	NC_000002.12:g.227257625C>A	TOPMed
COL4A3	Q01955	p.Pro337Leu	COSM3578461	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227257625C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly339Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227257630G>A	NCI-TCGA
COL4A3	Q01955	p.Arg341His	rs200738124	missense variant	-	NC_000002.12:g.227257637G>A	TOPMed
COL4A3	Q01955	p.Arg341Ser	rs778166354	missense variant	-	NC_000002.12:g.227257636C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg341His	RCV000735662	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227257637G>A	ClinVar
COL4A3	Q01955	p.Arg341Pro	rs200738124	missense variant	-	NC_000002.12:g.227257637G>C	TOPMed
COL4A3	Q01955	p.Arg341Cys	rs778166354	missense variant	-	NC_000002.12:g.227257636C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr344Ser	rs565527848	missense variant	-	NC_000002.12:g.227259793A>T	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Glu345Lys	rs760561462	missense variant	-	NC_000002.12:g.227259796G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Tyr347Cys	rs1485715311	missense variant	-	NC_000002.12:g.227259803A>G	TOPMed
COL4A3	Q01955	p.Tyr347Asn	rs765336013	missense variant	-	NC_000002.12:g.227259802T>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln351Pro	rs764210323	missense variant	-	NC_000002.12:g.227259815A>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln351Ter	rs1218470259	stop gained	-	NC_000002.12:g.227259814C>T	TOPMed
COL4A3	Q01955	p.Glu356Lys	rs752030126	missense variant	-	NC_000002.12:g.227259829G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro359Ala	rs757538073	missense variant	-	NC_000002.12:g.227259838C>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro362Ser	rs767943108	missense variant	-	NC_000002.12:g.227259847C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly363Arg	RCV000681934	missense variant	-	NC_000002.12:g.227259850G>A	ClinVar
COL4A3	Q01955	p.Pro364Ala	rs756618387	missense variant	-	NC_000002.12:g.227259853C>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro364Leu	rs779724492	missense variant	-	NC_000002.12:g.227259854C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly366Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227259860G>A	NCI-TCGA
COL4A3	Q01955	p.Gly366Arg	rs539765620	missense variant	-	NC_000002.12:g.227259859G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg368His	rs748026747	missense variant	-	NC_000002.12:g.227259866G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg368Cys	rs778397487	missense variant	-	NC_000002.12:g.227259865C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro370Leu	COSM3578462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227259872C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gln371Leu	rs199543633	missense variant	-	NC_000002.12:g.227259875A>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gln371His	rs1330087669	missense variant	-	NC_000002.12:g.227259876A>C	TOPMed,gnomAD
COL4A3	Q01955	p.Gln371Arg	rs199543633	missense variant	-	NC_000002.12:g.227259875A>G	TOPMed,gnomAD
COL4A3	Q01955	p.Gly372Ser	rs1275209481	missense variant	-	NC_000002.12:g.227259877G>A	gnomAD
COL4A3	Q01955	p.Pro373Leu	rs1274556576	missense variant	-	NC_000002.12:g.227261085C>T	gnomAD
COL4A3	Q01955	p.Pro376Arg	rs760049264	missense variant	-	NC_000002.12:g.227261094C>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro376Leu	rs760049264	missense variant	-	NC_000002.12:g.227261094C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro376Leu	RCV000518062	missense variant	-	NC_000002.12:g.227261094C>T	ClinVar
COL4A3	Q01955	p.Pro377Ser	rs1458310517	missense variant	-	NC_000002.12:g.227261096C>T	TOPMed
COL4A3	Q01955	p.Pro377Arg	rs1412082820	missense variant	-	NC_000002.12:g.227261097C>G	TOPMed
COL4A3	Q01955	p.Gly378GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227261093C>-	NCI-TCGA
COL4A3	Q01955	p.Pro380Ser	rs1437973419	missense variant	-	NC_000002.12:g.227261105C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Pro380Thr	rs1437973419	missense variant	-	NC_000002.12:g.227261105C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly381Arg	RCV000681752	missense variant	-	NC_000002.12:g.227261108G>C	ClinVar
COL4A3	Q01955	p.Ser386Leu	rs1383954433	missense variant	-	NC_000002.12:g.227263786C>T	gnomAD
COL4A3	Q01955	p.Gly389Ala	rs1380325246	missense variant	-	NC_000002.12:g.227263795G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Gly389Asp	rs1380325246	missense variant	-	NC_000002.12:g.227263795G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Arg391Lys	COSM3578464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227263801G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly392Glu	rs1114167371	missense variant	-	NC_000002.12:g.227263804G>A	-
COL4A3	Q01955	p.Gly392Glu	RCV000490752	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227263804G>A	ClinVar
COL4A3	Q01955	p.Ala393Ser	rs1320127585	missense variant	-	NC_000002.12:g.227263806G>T	gnomAD
COL4A3	Q01955	p.Gly395Glu	RCV000493906	missense variant	-	NC_000002.12:g.227263813G>A	ClinVar
COL4A3	Q01955	p.Gly395Glu	rs1131691738	missense variant	-	NC_000002.12:g.227263813G>A	-
COL4A3	Q01955	p.Trp396Cys	rs1348174898	missense variant	-	NC_000002.12:g.227263817G>T	TOPMed
COL4A3	Q01955	p.Pro397Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227263818C>T	NCI-TCGA
COL4A3	Q01955	p.Lys400Arg	rs1240263729	missense variant	-	NC_000002.12:g.227263828A>G	TOPMed
COL4A3	Q01955	p.Gly401Ala	rs1405861501	missense variant	-	NC_000002.12:g.227263831G>C	gnomAD
COL4A3	Q01955	p.Gly401Arg	RCV000681888	missense variant	-	NC_000002.12:g.227263830G>A	ClinVar
COL4A3	Q01955	p.Gly401Glu	COSM4901490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227263831G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Arg406Ter	RCV000589718	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227263845C>T	ClinVar
COL4A3	Q01955	p.Arg406Gln	rs373952897	missense variant	-	NC_000002.12:g.227263846G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg406Ter	rs371334239	stop gained	-	NC_000002.12:g.227263845C>T	ESP,TOPMed,gnomAD
COL4A3	Q01955	p.Gly407Arg	RCV000779311	missense variant	COL4A3-Related Disorders	NC_000002.12:g.227263848G>C	ClinVar
COL4A3	Q01955	p.Gly407Arg	VAR_011206	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
COL4A3	Q01955	p.Arg408Cys	rs756863324	missense variant	-	NC_000002.12:g.227263851C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg408His	RCV000267017	missense variant	Alport syndrome	NC_000002.12:g.227263852G>A	ClinVar
COL4A3	Q01955	p.Arg408His	rs34505188	missense variant	-	NC_000002.12:g.227263852G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly410Glu	rs1350342816	missense variant	-	NC_000002.12:g.227263858G>A	gnomAD
COL4A3	Q01955	p.Ala413Thr	rs756073120	missense variant	-	NC_000002.12:g.227263866G>A	ExAC,gnomAD
COL4A3	Q01955	p.Met414Ile	COSM230959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227263871G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly415Arg	rs780107628	missense variant	-	NC_000002.12:g.227263872G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro417Ser	rs373390728	missense variant	-	NC_000002.12:g.227263878C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser419Tyr	RCV000324429	missense variant	Alport syndrome	NC_000002.12:g.227263885C>A	ClinVar
COL4A3	Q01955	p.Ser419Tyr	rs201031986	missense variant	-	NC_000002.12:g.227263885C>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser419Cys	rs201031986	missense variant	-	NC_000002.12:g.227263885C>G	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly421Ser	rs1363441287	missense variant	-	NC_000002.12:g.227263890G>A	gnomAD
COL4A3	Q01955	p.Gly421Val	rs771127389	missense variant	-	NC_000002.12:g.227263891G>T	ExAC,gnomAD
COL4A3	Q01955	p.Cys422Tyr	rs1160105048	missense variant	-	NC_000002.12:g.227263894G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Ala423Gly	rs1385457679	missense variant	-	NC_000002.12:g.227263897C>G	gnomAD
COL4A3	Q01955	p.Gly424Cys	rs776919202	missense variant	-	NC_000002.12:g.227263899G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu428Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227263912T>C	NCI-TCGA
COL4A3	Q01955	p.Ser431Pro	rs1230346166	missense variant	-	NC_000002.12:g.227263920T>C	TOPMed,gnomAD
COL4A3	Q01955	p.Pro432Leu	rs534253913	missense variant	-	NC_000002.12:g.227263924C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro432Leu	RCV000665542	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227263924C>T	ClinVar
COL4A3	Q01955	p.Pro434Leu	rs1333655108	missense variant	-	NC_000002.12:g.227263930C>T	gnomAD
COL4A3	Q01955	p.Gly436Ala	rs1237274947	missense variant	-	NC_000002.12:g.227263936G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Gly436Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227263936G>A	NCI-TCGA
COL4A3	Q01955	p.Gly436Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227263935G>A	NCI-TCGA
COL4A3	Q01955	p.Pro437Arg	rs148686474	missense variant	-	NC_000002.12:g.227263939C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro437Leu	rs148686474	missense variant	-	NC_000002.12:g.227263939C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro437Ser	rs763403545	missense variant	-	NC_000002.12:g.227263938C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro437Ser	RCV000516321	missense variant	-	NC_000002.12:g.227263938C>T	ClinVar
COL4A3	Q01955	p.Gly439Ser	RCV000666899	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227263944G>A	ClinVar
COL4A3	Q01955	p.Gly439Val	rs770219564	missense variant	-	NC_000002.12:g.227266417G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly439Ser	rs1553755124	missense variant	-	NC_000002.12:g.227263944G>A	-
COL4A3	Q01955	p.Gly439Asp	rs770219564	missense variant	-	NC_000002.12:g.227266417G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp440Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227266419G>A	NCI-TCGA
COL4A3	Q01955	p.Val442Ile	rs749806341	missense variant	-	NC_000002.12:g.227266425G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Phe443Ser	rs769134662	missense variant	-	NC_000002.12:g.227266429T>C	ExAC,gnomAD
COL4A3	Q01955	p.Arg444Pro	rs761355107	missense variant	-	NC_000002.12:g.227266432G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg444His	rs761355107	missense variant	-	NC_000002.12:g.227266432G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg444Cys	rs773914532	missense variant	-	NC_000002.12:g.227266431C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg444Ser	rs773914532	missense variant	-	NC_000002.12:g.227266431C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly446Ala	rs771670523	missense variant	-	NC_000002.12:g.227266438G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly446Val	rs771670523	missense variant	-	NC_000002.12:g.227266438G>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro447Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227266441C>A	NCI-TCGA
COL4A3	Q01955	p.Pro448His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227266444C>A	NCI-TCGA
COL4A3	Q01955	p.Gly449Arg	rs760203599	missense variant	-	NC_000002.12:g.227266446G>C	ExAC,gnomAD
COL4A3	Q01955	p.Asp450GluArg	RCV000722807	missense variant	-	NC_000002.12:g.227266451_227266453delinsACG	ClinVar
COL4A3	Q01955	p.His451Arg	rs11677877	missense variant	-	NC_000002.12:g.227266453A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.His451Asn	rs1370839845	missense variant	-	NC_000002.12:g.227266452C>A	gnomAD
COL4A3	Q01955	p.His451Arg	RCV000357978	missense variant	Alport syndrome	NC_000002.12:g.227266453A>G	ClinVar
COL4A3	Q01955	p.Gly452Arg	rs772958162	missense variant	-	NC_000002.12:g.227266455G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly452Arg	RCV000666502	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227266455G>A	ClinVar
COL4A3	Q01955	p.Gly452Arg	RCV000681919	missense variant	-	NC_000002.12:g.227266455G>A	ClinVar
COL4A3	Q01955	p.Gly452Ter	rs772958162	stop gained	-	NC_000002.12:g.227266455G>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro454Gln	rs374905404	missense variant	-	NC_000002.12:g.227266462C>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro454Thr	rs983894945	missense variant	-	NC_000002.12:g.227266461C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly455Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227266464G>T	NCI-TCGA
COL4A3	Q01955	p.Gly458Arg	rs757341933	missense variant	-	NC_000002.12:g.227266473G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly458Arg	RCV000763078	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227266473G>C	ClinVar
COL4A3	Q01955	p.Gly458Arg	rs757341933	missense variant	-	NC_000002.12:g.227266473G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly458Arg	RCV000517256	missense variant	-	NC_000002.12:g.227266473G>C	ClinVar
COL4A3	Q01955	p.Ser459Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227266477C>A	NCI-TCGA
COL4A3	Q01955	p.Pro460Leu	rs371585017	missense variant	-	NC_000002.12:g.227266480C>T	ESP,TOPMed,gnomAD
COL4A3	Q01955	p.Gly461Arg	rs1135401954	missense variant	-	NC_000002.12:g.227266482G>C	-
COL4A3	Q01955	p.Gly461Arg	RCV000496506	missense variant	Alport syndrome	NC_000002.12:g.227266482G>C	ClinVar
COL4A3	Q01955	p.Pro463Ser	rs781085205	missense variant	-	NC_000002.12:g.227266488C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val465Ile	rs750692670	missense variant	-	NC_000002.12:g.227266494G>A	ExAC,gnomAD
COL4A3	Q01955	p.Asp466Asn	rs541071302	missense variant	-	NC_000002.12:g.227266497G>A	TOPMed
COL4A3	Q01955	p.Gly467Arg	rs201088233	missense variant	-	NC_000002.12:g.227266500G>C	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Lys469Arg	rs1201002988	missense variant	-	NC_000002.12:g.227266507A>G	TOPMed
COL4A3	Q01955	p.Lys469Asn	rs1488723436	missense variant	-	NC_000002.12:g.227266508A>C	gnomAD
COL4A3	Q01955	p.Pro472Thr	rs1374913023	missense variant	-	NC_000002.12:g.227266998C>A	gnomAD
COL4A3	Q01955	p.Gly473Asp	rs1413028515	missense variant	-	NC_000002.12:g.227267002G>A	gnomAD
COL4A3	Q01955	p.Leu474Pro	rs766554081	missense variant	-	NC_000002.12:g.227267005T>C	ExAC,gnomAD
COL4A3	Q01955	p.Leu475Val	rs886055738	missense variant	-	NC_000002.12:g.227267007C>G	gnomAD
COL4A3	Q01955	p.Leu475Gln	rs754249385	missense variant	-	NC_000002.12:g.227267008T>A	ExAC,gnomAD
COL4A3	Q01955	p.Leu475Val	RCV000318428	missense variant	Alport syndrome	NC_000002.12:g.227267007C>G	ClinVar
COL4A3	Q01955	p.Cys476Tyr	rs1041119510	missense variant	-	NC_000002.12:g.227267011G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Cys476Ser	rs1041119510	missense variant	-	NC_000002.12:g.227267011G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Cys479Gly	rs755356916	missense variant	-	NC_000002.12:g.227267019T>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Cys479Arg	rs755356916	missense variant	-	NC_000002.12:g.227267019T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Tyr481His	rs758774822	missense variant	-	NC_000002.12:g.227267025T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly484Arg	rs777401300	missense variant	-	NC_000002.12:g.227267034G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly484Val	COSM3991116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227267035G>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro486Leu	rs372903565	missense variant	-	NC_000002.12:g.227267041C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly487Cys	rs745472969	missense variant	-	NC_000002.12:g.227267043G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly487Ser	rs745472969	missense variant	-	NC_000002.12:g.227267043G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly487Arg	rs745472969	missense variant	-	NC_000002.12:g.227267043G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly487Cys	RCV000673812	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227267043G>T	ClinVar
COL4A3	Q01955	p.Leu488Ile	rs1402044849	missense variant	-	NC_000002.12:g.227267046C>A	gnomAD
COL4A3	Q01955	p.Gly490Val	rs1159721123	missense variant	-	NC_000002.12:g.227267053G>T	gnomAD
COL4A3	Q01955	p.Gly490Arg	rs1256505387	missense variant	-	NC_000002.12:g.227267052G>C	TOPMed
COL4A3	Q01955	p.His495Tyr	RCV000519515	missense variant	-	NC_000002.12:g.227267067C>T	ClinVar
COL4A3	Q01955	p.His495Tyr	RCV000259762	missense variant	Alport syndrome	NC_000002.12:g.227267067C>T	ClinVar
COL4A3	Q01955	p.His495Tyr	rs200510532	missense variant	-	NC_000002.12:g.227267067C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.His495Arg	rs763002740	missense variant	-	NC_000002.12:g.227267068A>G	ExAC,gnomAD
COL4A3	Q01955	p.Val497Ile	rs1317246081	missense variant	-	NC_000002.12:g.227267073G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Lys498Asn	rs200207635	missense variant	-	NC_000002.12:g.227267078A>C	gnomAD
COL4A3	Q01955	p.Pro501Leu	rs1369808489	missense variant	-	NC_000002.12:g.227267086C>T	TOPMed
COL4A3	Q01955	p.Arg503Ile	rs1434266764	missense variant	-	NC_000002.12:g.227269913G>T	TOPMed
COL4A3	Q01955	p.Ala506Thr	RCV000317299	missense variant	Alport syndrome	NC_000002.12:g.227269921G>A	ClinVar
COL4A3	Q01955	p.Ala506Thr	rs188967260	missense variant	-	NC_000002.12:g.227269921G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala507Pro	rs1425935146	missense variant	-	NC_000002.12:g.227269924G>C	gnomAD
COL4A3	Q01955	p.Gly508Ser	rs1466313487	missense variant	-	NC_000002.12:g.227269927G>A	gnomAD
COL4A3	Q01955	p.Gly508Asp	rs757774756	missense variant	-	NC_000002.12:g.227269928G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Lys510Asn	rs780865844	missense variant	-	NC_000002.12:g.227269935A>C	ExAC
COL4A3	Q01955	p.Gly511Arg	rs921768118	missense variant	-	NC_000002.12:g.227269936G>A	TOPMed
COL4A3	Q01955	p.Leu521Phe	rs1325817960	missense variant	-	NC_000002.12:g.227269966C>T	gnomAD
COL4A3	Q01955	p.Leu521Val	COSM4834123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227269966C>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro522Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227269969C>T	NCI-TCGA
COL4A3	Q01955	p.Gly526Ser	COSM4092082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227270770G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Phe527Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227270774T>C	NCI-TCGA
COL4A3	Q01955	p.Pro528Leu	rs367868483	missense variant	-	NC_000002.12:g.227270777C>T	ESP,TOPMed
COL4A3	Q01955	p.Gly532Arg	rs779575469	missense variant	-	NC_000002.12:g.227270788G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly532Asp	rs371405814	missense variant	-	NC_000002.12:g.227270789G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly532Asp	rs371405814	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227270789G>A	UniProt,dbSNP
COL4A3	Q01955	p.Gly532Asp	VAR_030945	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227270789G>A	UniProt
COL4A3	Q01955	p.Gly532Ser	rs779575469	missense variant	-	NC_000002.12:g.227270788G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro534Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227270795C>G	NCI-TCGA
COL4A3	Q01955	p.Pro534Gln	COSM720432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227270795C>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Leu536Phe	rs1310273340	missense variant	-	NC_000002.12:g.227270800C>T	gnomAD
COL4A3	Q01955	p.Lys537Asn	rs778736621	missense variant	-	NC_000002.12:g.227270805A>T	ExAC
COL4A3	Q01955	p.Glu539Ter	COSM1017327	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227270809G>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly541Ala	rs1288801444	missense variant	-	NC_000002.12:g.227270816G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Glu542Lys	rs532699116	missense variant	-	NC_000002.12:g.227270818G>A	1000Genomes,TOPMed
COL4A3	Q01955	p.Leu544Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227270824C>A	NCI-TCGA
COL4A3	Q01955	p.Leu544Pro	rs1210299367	missense variant	-	NC_000002.12:g.227270825T>C	gnomAD
COL4A3	Q01955	p.Leu544Phe	rs1488620484	missense variant	-	NC_000002.12:g.227270824C>T	gnomAD
COL4A3	Q01955	p.Pro546Leu	rs772037798	missense variant	-	NC_000002.12:g.227270831C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val550Gly	rs746917074	missense variant	-	NC_000002.12:g.227270843T>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro553Ser	rs1160313671	missense variant	-	NC_000002.12:g.227270851C>T	gnomAD
COL4A3	Q01955	p.Asp555Glu	rs375766511	missense variant	-	NC_000002.12:g.227270859C>G	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro556Leu	rs768989338	missense variant	-	NC_000002.12:g.227270861C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro556Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227270861C>A	NCI-TCGA
COL4A3	Q01955	p.Gly557Arg	rs1457269547	missense variant	-	NC_000002.12:g.227270863G>A	gnomAD
COL4A3	Q01955	p.Arg559Gly	rs767941255	missense variant	-	NC_000002.12:g.227270869A>G	ExAC,gnomAD
COL4A3	Q01955	p.Gln561His	rs1188215723	missense variant	-	NC_000002.12:g.227270877A>C	TOPMed
COL4A3	Q01955	p.Pro562Arg	rs773619513	missense variant	-	NC_000002.12:g.227270879C>G	ExAC,gnomAD
COL4A3	Q01955	p.Gly563Arg	RCV000674357	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227270881G>A	ClinVar
COL4A3	Q01955	p.Gly563Arg	rs1553757060	missense variant	-	NC_000002.12:g.227270881G>A	-
COL4A3	Q01955	p.Asp568Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227270898T>A	NCI-TCGA
COL4A3	Q01955	p.Asp568Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227270896G>A	NCI-TCGA
COL4A3	Q01955	p.Gly572Val	rs1234251751	missense variant	-	NC_000002.12:g.227270909G>T	gnomAD
COL4A3	Q01955	p.Pro574Leu	RCV000247531	missense variant	-	NC_000002.12:g.227270915C>T	ClinVar
COL4A3	Q01955	p.Pro574Leu	RCV000710811	missense variant	-	NC_000002.12:g.227270915C>T	ClinVar
COL4A3	Q01955	p.Pro574Leu	RCV000576573	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227270915C>T	ClinVar
COL4A3	Q01955	p.Pro574Leu	RCV000296144	missense variant	Alport syndrome	NC_000002.12:g.227270915C>T	ClinVar
COL4A3	Q01955	p.Pro574Leu	rs28381984	missense variant	-	NC_000002.12:g.227270915C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro574Gln	rs28381984	missense variant	-	NC_000002.12:g.227270915C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val576Met	rs752539537	missense variant	-	NC_000002.12:g.227270920G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly578Glu	rs1210472222	missense variant	-	NC_000002.12:g.227270927G>A	TOPMed
COL4A3	Q01955	p.Pro580Arg	rs1486154582	missense variant	-	NC_000002.12:g.227270933C>G	TOPMed
COL4A3	Q01955	p.Pro582Ser	rs758213592	missense variant	-	NC_000002.12:g.227270938C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro582Arg	rs777507103	missense variant	-	NC_000002.12:g.227270939C>G	ExAC,gnomAD
COL4A3	Q01955	p.Lys583Ter	rs920504687	stop gained	-	NC_000002.12:g.227270941A>T	TOPMed
COL4A3	Q01955	p.Glu585Lys	rs757164307	missense variant	-	NC_000002.12:g.227270947G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala587Ser	rs764680234	missense variant	-	NC_000002.12:g.227272949G>T	ExAC,gnomAD
COL4A3	Q01955	p.Ala587Thr	rs764680234	missense variant	-	NC_000002.12:g.227272949G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly590Ser	rs1370893147	missense variant	-	NC_000002.12:g.227272958G>A	gnomAD
COL4A3	Q01955	p.Glu591Gly	rs757982551	missense variant	-	NC_000002.12:g.227272962A>G	ExAC,gnomAD
COL4A3	Q01955	p.Lys592Gln	rs377125283	missense variant	-	NC_000002.12:g.227272964A>C	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly593Ala	rs751361421	missense variant	-	NC_000002.12:g.227272968G>C	ExAC,gnomAD
COL4A3	Q01955	p.Asp594Asn	rs757211772	missense variant	-	NC_000002.12:g.227272970G>A	ExAC,gnomAD
COL4A3	Q01955	p.Asp594Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227272972C>A	NCI-TCGA
COL4A3	Q01955	p.Pro597Ala	rs1370386326	missense variant	-	NC_000002.12:g.227272979C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Pro597Leu	rs781163705	missense variant	-	NC_000002.12:g.227272980C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro597His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227272980C>A	NCI-TCGA
COL4A3	Q01955	p.Pro597Thr	rs1370386326	missense variant	-	NC_000002.12:g.227272979C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Pro598Ser	COSM3578470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227272982C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly599Ala	COSM3798696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227272986G>C	NCI-TCGA Cosmic
COL4A3	Q01955	p.Asp600Val	rs1277449259	missense variant	-	NC_000002.12:g.227272989A>T	TOPMed
COL4A3	Q01955	p.Asp600Asn	rs781224368	missense variant	-	NC_000002.12:g.227272988G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro601Ser	rs1258967071	missense variant	-	NC_000002.12:g.227272991C>T	gnomAD
COL4A3	Q01955	p.Pro601Leu	rs369567469	missense variant	-	NC_000002.12:g.227272992C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser603Phe	rs1336598219	missense variant	-	NC_000002.12:g.227272998C>T	TOPMed
COL4A3	Q01955	p.Ser606Tyr	rs779066867	missense variant	-	NC_000002.12:g.227273007C>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly608Glu	COSM3578472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227273013G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro609Ser	rs1468699642	missense variant	-	NC_000002.12:g.227273015C>T	TOPMed
COL4A3	Q01955	p.Pro609Arg	rs1488754515	missense variant	-	NC_000002.12:g.227273016C>G	gnomAD
COL4A3	Q01955	p.Ala610Ser	rs1204528209	missense variant	-	NC_000002.12:g.227273018G>T	gnomAD
COL4A3	Q01955	p.Pro612Leu	rs1408313223	missense variant	-	NC_000002.12:g.227273025C>T	TOPMed
COL4A3	Q01955	p.Pro616Leu	rs1193846733	missense variant	-	NC_000002.12:g.227273037C>T	gnomAD
COL4A3	Q01955	p.Gly619Arg	rs773515249	missense variant	-	NC_000002.12:g.227273045G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly619Arg	RCV000625624	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227273045G>A	ClinVar
COL4A3	Q01955	p.Gly619Arg	RCV000681773	missense variant	-	NC_000002.12:g.227273045G>A	ClinVar
COL4A3	Q01955	p.Gln621His	rs771390525	missense variant	-	NC_000002.12:g.227273053A>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly622Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227273055G>T	NCI-TCGA
COL4A3	Q01955	p.Gly622Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227273054G>A	NCI-TCGA
COL4A3	Q01955	p.Gly622Glu	COSM229984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227273055G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro624Ala	rs1238595904	missense variant	-	NC_000002.12:g.227273060C>G	TOPMed
COL4A3	Q01955	p.Gln627His	COSM6157230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227273071G>C	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly628Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227273072G>A	NCI-TCGA
COL4A3	Q01955	p.Thr629Met	RCV000727017	missense variant	-	NC_000002.12:g.227273076C>T	ClinVar
COL4A3	Q01955	p.Thr629Met	rs139361545	missense variant	-	NC_000002.12:g.227273076C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly631Val	RCV000755746	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227273082G>T	ClinVar
COL4A3	Q01955	p.Gly631Val	rs1315862965	missense variant	-	NC_000002.12:g.227273082G>T	TOPMed
COL4A3	Q01955	p.Gly631Val	VAR_080826	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
COL4A3	Q01955	p.Val632Ala	rs762656208	missense variant	-	NC_000002.12:g.227273085T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro633Thr	rs1365798663	missense variant	-	NC_000002.12:g.227273087C>A	gnomAD
COL4A3	Q01955	p.Gly634Arg	RCV000449541	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227273090G>A	ClinVar
COL4A3	Q01955	p.Gly634Arg	rs1060499696	missense variant	-	NC_000002.12:g.227273090G>A	-
COL4A3	Q01955	p.Ala635Val	rs1225143206	missense variant	-	NC_000002.12:g.227273094C>T	TOPMed
COL4A3	Q01955	p.Pro636Ser	rs763801141	missense variant	-	NC_000002.12:g.227273096C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly637Arg	rs761686437	missense variant	-	NC_000002.12:g.227273099G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly637AspPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227273094C>-	NCI-TCGA
COL4A3	Q01955	p.Gly637Arg	RCV000256394	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227273099G>A	ClinVar
COL4A3	Q01955	p.Pro638Ser	rs767174856	missense variant	-	NC_000002.12:g.227273102C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro638Leu	rs950849463	missense variant	-	NC_000002.12:g.227273103C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Pro639Thr	rs750387239	missense variant	-	NC_000002.12:g.227273105C>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly640Arg	RCV000489873	missense variant	-	NC_000002.12:g.227273108G>A	ClinVar
COL4A3	Q01955	p.Gly640Arg	rs200672668	missense variant	-	NC_000002.12:g.227273108G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly640Arg	rs200672668	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227273108G>A	UniProt,dbSNP
COL4A3	Q01955	p.Gly640Arg	VAR_011210	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227273108G>A	UniProt
COL4A3	Q01955	p.Gly640Arg	RCV000410611	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227273108G>A	ClinVar
COL4A3	Q01955	p.Glu641Lys	rs1482051609	missense variant	-	NC_000002.12:g.227273111G>A	gnomAD
COL4A3	Q01955	p.Glu641Asp	rs752819997	missense variant	-	NC_000002.12:g.227273113A>C	ExAC,gnomAD
COL4A3	Q01955	p.Glu641Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227273112A>T	NCI-TCGA
COL4A3	Q01955	p.Gly643Ser	rs778034451	missense variant	-	NC_000002.12:g.227273117G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly643Ser	RCV000348330	missense variant	Alport syndrome	NC_000002.12:g.227273117G>A	ClinVar
COL4A3	Q01955	p.Pro644Leu	rs1220487318	missense variant	-	NC_000002.12:g.227276388C>T	gnomAD
COL4A3	Q01955	p.Arg645Ter	RCV000710812	frameshift	-	NC_000002.12:g.227276390del	ClinVar
COL4A3	Q01955	p.Gly646Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227276393G>T	NCI-TCGA
COL4A3	Q01955	p.Leu648Ile	rs1273999671	missense variant	-	NC_000002.12:g.227276399C>A	TOPMed
COL4A3	Q01955	p.Ser649Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227276404T>G	NCI-TCGA
COL4A3	Q01955	p.Ser649Gly	rs1202024408	missense variant	-	NC_000002.12:g.227276402A>G	gnomAD
COL4A3	Q01955	p.Val650Ala	rs1293134993	missense variant	-	NC_000002.12:g.227276406T>C	TOPMed
COL4A3	Q01955	p.Ser651Ter	rs1042357811	stop gained	-	NC_000002.12:g.227276409C>G	TOPMed
COL4A3	Q01955	p.Val654Leu	rs1459418110	missense variant	-	NC_000002.12:g.227276417G>C	gnomAD
COL4A3	Q01955	p.Val654Ile	rs1459418110	missense variant	-	NC_000002.12:g.227276417G>A	gnomAD
COL4A3	Q01955	p.Pro655Ser	rs370768231	missense variant	-	NC_000002.12:g.227276420C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro658Ala	rs749751219	missense variant	-	NC_000002.12:g.227276429C>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro658Leu	rs770397467	missense variant	-	NC_000002.12:g.227276430C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro660Thr	rs773674552	missense variant	-	NC_000002.12:g.227276435C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro660Leu	rs1326057654	missense variant	-	NC_000002.12:g.227276436C>T	TOPMed
COL4A3	Q01955	p.Pro660Thr	RCV000735711	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227276435C>A	ClinVar
COL4A3	Q01955	p.Gly662Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227276442G>A	NCI-TCGA
COL4A3	Q01955	p.Pro663Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227276445C>T	NCI-TCGA
COL4A3	Q01955	p.Pro663Thr	rs747891356	missense variant	-	NC_000002.12:g.227276444C>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro664Ser	rs1168872602	missense variant	-	NC_000002.12:g.227276447C>T	gnomAD
COL4A3	Q01955	p.Gly665Ala	rs1465952147	missense variant	-	NC_000002.12:g.227276451G>C	gnomAD
COL4A3	Q01955	p.His666Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227276453C>T	NCI-TCGA
COL4A3	Q01955	p.His666Leu	rs771617412	missense variant	-	NC_000002.12:g.227276454A>T	ExAC,gnomAD
COL4A3	Q01955	p.His666Gln	COSM3578476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227276455T>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly668Arg	RCV000735710	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227276459G>C	ClinVar
COL4A3	Q01955	p.Pro669Ser	rs760523928	missense variant	-	NC_000002.12:g.227276462C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro669Arg	rs766227789	missense variant	-	NC_000002.12:g.227276463C>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro669Ala	rs760523928	missense variant	-	NC_000002.12:g.227276462C>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro669Leu	rs766227789	missense variant	-	NC_000002.12:g.227276463C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly671Ser	rs759326548	missense variant	-	NC_000002.12:g.227276468G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly671Asp	rs1085307955	missense variant	-	NC_000002.12:g.227276469G>A	TOPMed
COL4A3	Q01955	p.Gly671Asp	RCV000489100	missense variant	-	NC_000002.12:g.227276469G>A	ClinVar
COL4A3	Q01955	p.Pro673Ala	rs1198131772	missense variant	-	NC_000002.12:g.227276474C>G	TOPMed
COL4A3	Q01955	p.Gly674Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227277449G>A	NCI-TCGA
COL4A3	Q01955	p.Ile675Leu	rs1232338023	missense variant	-	NC_000002.12:g.227277451A>C	gnomAD
COL4A3	Q01955	p.Ser678Cys	rs1354756195	missense variant	-	NC_000002.12:g.227277461C>G	gnomAD
COL4A3	Q01955	p.Leu679Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227277464T>A	NCI-TCGA
COL4A3	Q01955	p.Gly680Ter	RCV000671890	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227277451_227277458ATCCCTGG[3]	ClinVar
COL4A3	Q01955	p.Cys682Arg	rs913719303	missense variant	-	NC_000002.12:g.227277472T>C	gnomAD
COL4A3	Q01955	p.Cys682Tyr	rs1214574322	missense variant	-	NC_000002.12:g.227277473G>A	gnomAD
COL4A3	Q01955	p.Asp684Ala	rs1227180382	missense variant	-	NC_000002.12:g.227277479A>C	gnomAD
COL4A3	Q01955	p.Pro685Leu	rs759579342	missense variant	-	NC_000002.12:g.227277482C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu687Ile	rs765085029	missense variant	-	NC_000002.12:g.227277487C>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly689Arg	RCV000664680	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227277493G>A	ClinVar
COL4A3	Q01955	p.Gly689Arg	rs1553758919	missense variant	-	NC_000002.12:g.227277493G>A	-
COL4A3	Q01955	p.Asp691Asn	rs1158524505	missense variant	-	NC_000002.12:g.227277499G>A	TOPMed
COL4A3	Q01955	p.Gly692Ser	rs761780956	missense variant	-	NC_000002.12:g.227277502G>A	ExAC
COL4A3	Q01955	p.Pro694Ser	rs920326958	missense variant	-	NC_000002.12:g.227277508C>T	TOPMed
COL4A3	Q01955	p.Gly695Arg	rs200287952	missense variant	-	NC_000002.12:g.227277511G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly695Arg	RCV000408794	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227277511G>A	ClinVar
COL4A3	Q01955	p.Gly695Glu	rs544999908	missense variant	-	NC_000002.12:g.227277512G>A	1000Genomes
COL4A3	Q01955	p.Pro697Ser	COSM3578478	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227277517C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly698Arg	rs756268290	missense variant	-	NC_000002.12:g.227277520G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile699Thr	rs754146345	missense variant	-	NC_000002.12:g.227277524T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly700Glu	rs1331805495	missense variant	-	NC_000002.12:g.227277527G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly700Val	rs1331805495	missense variant	-	NC_000002.12:g.227277527G>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gly703Arg	rs895264273	missense variant	-	NC_000002.12:g.227277535G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Pro704Ser	rs376083145	missense variant	-	NC_000002.12:g.227277538C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro704Leu	rs1256071852	missense variant	-	NC_000002.12:g.227277539C>T	TOPMed
COL4A3	Q01955	p.Gly706Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227277545G>A	NCI-TCGA
COL4A3	Q01955	p.Pro707Ser	rs368429205	missense variant	-	NC_000002.12:g.227277547C>T	ESP,ExAC,gnomAD
COL4A3	Q01955	p.Gly709Glu	RCV000516433	missense variant	-	NC_000002.12:g.227279793G>A	ClinVar
COL4A3	Q01955	p.Gly709Glu	rs1553759430	missense variant	-	NC_000002.12:g.227279793G>A	-
COL4A3	Q01955	p.Gln711Leu	rs1462592333	missense variant	-	NC_000002.12:g.227279799A>T	TOPMed
COL4A3	Q01955	p.Gln711His	rs527383673	missense variant	-	NC_000002.12:g.227279800A>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly715Ser	rs1196105825	missense variant	-	NC_000002.12:g.227279810G>A	gnomAD
COL4A3	Q01955	p.Thr716Ile	rs759585383	missense variant	-	NC_000002.12:g.227279814C>T	ExAC,gnomAD
COL4A3	Q01955	p.Thr716Arg	rs759585383	missense variant	-	NC_000002.12:g.227279814C>G	ExAC,gnomAD
COL4A3	Q01955	p.Lys717Arg	rs1446634445	missense variant	-	NC_000002.12:g.227279817A>G	gnomAD
COL4A3	Q01955	p.Gly718Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227279819G>T	NCI-TCGA
COL4A3	Q01955	p.Ser719Pro	rs751113129	missense variant	-	NC_000002.12:g.227279822T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser719Leu	rs1164505506	missense variant	-	NC_000002.12:g.227279823C>T	gnomAD
COL4A3	Q01955	p.Gly721Asp	rs1464399784	missense variant	-	NC_000002.12:g.227279829G>A	gnomAD
COL4A3	Q01955	p.Pro723His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227279835C>A	NCI-TCGA
COL4A3	Q01955	p.Pro723Leu	rs201198284	missense variant	-	NC_000002.12:g.227279835C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro723Ser	rs780690343	missense variant	-	NC_000002.12:g.227279834C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly724Glu	rs1299273722	missense variant	-	NC_000002.12:g.227279838G>A	gnomAD
COL4A3	Q01955	p.Lys725Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227279841A>T	NCI-TCGA
COL4A3	Q01955	p.Lys725Arg	rs199734116	missense variant	-	NC_000002.12:g.227279841A>G	1000Genomes
COL4A3	Q01955	p.Met726Thr	rs1224292796	missense variant	-	NC_000002.12:g.227279844T>C	TOPMed,gnomAD
COL4A3	Q01955	p.Met726Ter	RCV000710813	frameshift	-	NC_000002.12:g.227279843dup	ClinVar
COL4A3	Q01955	p.Glu728Asp	rs779837475	missense variant	-	NC_000002.12:g.227279851G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro729Leu	rs749279118	missense variant	-	NC_000002.12:g.227279853C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly733Ala	rs768574539	missense variant	-	NC_000002.12:g.227279865G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly736Asp	rs773317939	missense variant	-	NC_000002.12:g.227279874G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly736Val	rs773317939	missense variant	-	NC_000002.12:g.227279874G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu737His	rs760719817	missense variant	-	NC_000002.12:g.227279877T>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu737Phe	rs985672803	missense variant	-	NC_000002.12:g.227279876C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Pro738Leu	rs1421064735	missense variant	-	NC_000002.12:g.227279880C>T	gnomAD
COL4A3	Q01955	p.Gly739Arg	rs375040636	missense variant	-	NC_000002.12:g.227279882G>A	ESP,TOPMed,gnomAD
COL4A3	Q01955	p.Gly739Arg	rs375040636	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227279882G>A	UniProt,dbSNP
COL4A3	Q01955	p.Gly739Arg	VAR_030946	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227279882G>A	UniProt
COL4A3	Q01955	p.Gly739Arg	RCV000411680	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227279882G>A	ClinVar
COL4A3	Q01955	p.Ala740Gly	rs1457828414	missense variant	-	NC_000002.12:g.227279886C>G	gnomAD
COL4A3	Q01955	p.Ala740Thr	rs1374057361	missense variant	-	NC_000002.12:g.227279885G>A	gnomAD
COL4A3	Q01955	p.Glu743Lys	COSM3909740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227280443G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro744Thr	rs1355241282	missense variant	-	NC_000002.12:g.227280446C>A	gnomAD
COL4A3	Q01955	p.Pro744Leu	rs1215979363	missense variant	-	NC_000002.12:g.227280447C>T	gnomAD
COL4A3	Q01955	p.Val746Ala	rs976794410	missense variant	-	NC_000002.12:g.227280453T>C	TOPMed
COL4A3	Q01955	p.Met748Thr	rs1236567213	missense variant	-	NC_000002.12:g.227280459T>C	gnomAD
COL4A3	Q01955	p.Met748Ile	rs748037608	missense variant	-	NC_000002.12:g.227280460G>A	ExAC
COL4A3	Q01955	p.Pro749His	rs918245943	missense variant	-	NC_000002.12:g.227280462C>A	-
COL4A3	Q01955	p.Pro755Ser	rs770920210	missense variant	-	NC_000002.12:g.227280479C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly756Ala	rs1308023279	missense variant	-	NC_000002.12:g.227280483G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Phe757Leu	rs564627125	missense variant	-	NC_000002.12:g.227280485T>C	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Gly759Ala	rs1168114749	missense variant	-	NC_000002.12:g.227280492G>C	TOPMed
COL4A3	Q01955	p.Glu760Val	rs368940964	missense variant	-	NC_000002.12:g.227280495A>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg761Lys	rs747356302	missense variant	-	NC_000002.12:g.227280498G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly762Ser	rs983885088	missense variant	-	NC_000002.12:g.227280500G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly762Arg	RCV000735783	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227280500G>C	ClinVar
COL4A3	Q01955	p.Asn763Ser	rs1378494393	missense variant	-	NC_000002.12:g.227280504A>G	gnomAD
COL4A3	Q01955	p.Ser764Tyr	rs776039489	missense variant	-	NC_000002.12:g.227280507C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly765Ala	rs764491513	missense variant	-	NC_000002.12:g.227280510G>C	ExAC,gnomAD
COL4A3	Q01955	p.Glu766Lys	rs769177741	missense variant	-	NC_000002.12:g.227280512G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.His767Arg	rs1304361843	missense variant	-	NC_000002.12:g.227280516A>G	gnomAD
COL4A3	Q01955	p.Ile770Thr	rs762337737	missense variant	-	NC_000002.12:g.227280525T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile770Ser	rs762337737	missense variant	-	NC_000002.12:g.227280525T>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu772Phe	rs766989068	missense variant	-	NC_000002.12:g.227280530C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly780Val	COSM3991118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227280555G>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Thr781Pro	rs1321738280	missense variant	-	NC_000002.12:g.227280557A>C	TOPMed
COL4A3	Q01955	p.Thr781Ser	rs1277359310	missense variant	-	NC_000002.12:g.227280558C>G	gnomAD
COL4A3	Q01955	p.Gly783Arg	rs1310041969	missense variant	-	NC_000002.12:g.227280563G>A	gnomAD
COL4A3	Q01955	p.Asn784Asp	rs909666135	missense variant	-	NC_000002.12:g.227280566A>G	gnomAD
COL4A3	Q01955	p.Asn784His	rs909666135	missense variant	-	NC_000002.12:g.227280566A>C	gnomAD
COL4A3	Q01955	p.Glu785Lys	rs755792441	missense variant	-	NC_000002.12:g.227280569G>A	ExAC,gnomAD
COL4A3	Q01955	p.Leu787Phe	rs937124617	missense variant	-	NC_000002.12:g.227280575C>T	TOPMed
COL4A3	Q01955	p.Leu787Pro	rs766043724	missense variant	-	NC_000002.12:g.227280576T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg791Gln	rs781635651	missense variant	-	NC_000002.12:g.227280588G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Arg791Ter	rs1060499654	stop gained	-	NC_000002.12:g.227280587C>T	gnomAD
COL4A3	Q01955	p.Arg791Ter	RCV000763472	nonsense	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227280587C>T	ClinVar
COL4A3	Q01955	p.Pro794Leu	RCV000710814	missense variant	-	NC_000002.12:g.227280899C>T	ClinVar
COL4A3	Q01955	p.Pro797Arg	rs1283533086	missense variant	-	NC_000002.12:g.227280908C>G	gnomAD
COL4A3	Q01955	p.Glu802Lys	rs1256619919	missense variant	-	NC_000002.12:g.227280922G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Pro805Thr	rs1205896711	missense variant	-	NC_000002.12:g.227280931C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Pro805His	rs1293246002	missense variant	-	NC_000002.12:g.227280932C>A	TOPMed
COL4A3	Q01955	p.Pro806Gln	rs775865576	missense variant	-	NC_000002.12:g.227280935C>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro806Leu	rs775865576	missense variant	-	NC_000002.12:g.227280935C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly807Ter	RCV000667462	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227280935dup	ClinVar
COL4A3	Q01955	p.Arg808Ser	rs759352023	missense variant	-	NC_000002.12:g.227280942G>T	ExAC,gnomAD
COL4A3	Q01955	p.Cys809Gly	rs1201806587	missense variant	-	NC_000002.12:g.227280943T>G	gnomAD
COL4A3	Q01955	p.Ile810Thr	rs1430269347	missense variant	-	NC_000002.12:g.227280947T>C	gnomAD
COL4A3	Q01955	p.Gly812Ser	rs774838919	missense variant	-	NC_000002.12:g.227280952G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg814Gly	rs1421475586	missense variant	-	NC_000002.12:g.227280958A>G	gnomAD
COL4A3	Q01955	p.Gln817Arg	rs374735941	missense variant	-	NC_000002.12:g.227280968A>G	ESP,ExAC,gnomAD
COL4A3	Q01955	p.Gly818Arg	RCV000517367	missense variant	-	NC_000002.12:g.227280970G>A	ClinVar
COL4A3	Q01955	p.Gly818Arg	RCV000668107	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227280970G>A	ClinVar
COL4A3	Q01955	p.Gly818Arg	rs868002181	missense variant	-	NC_000002.12:g.227280970G>A	gnomAD
COL4A3	Q01955	p.Gly818Ter	rs868002181	stop gained	-	NC_000002.12:g.227280970G>T	gnomAD
COL4A3	Q01955	p.Pro820Leu	rs1303333190	missense variant	-	NC_000002.12:g.227280977C>T	gnomAD
COL4A3	Q01955	p.Asn823Ser	rs1339422678	missense variant	-	NC_000002.12:g.227280986A>G	gnomAD
COL4A3	Q01955	p.Leu825Phe	rs192027050	missense variant	-	NC_000002.12:g.227280993G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly827Arg	rs765810654	missense variant	-	NC_000002.12:g.227280997G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gln828His	rs1216014403	missense variant	-	NC_000002.12:g.227281002A>C	TOPMed
COL4A3	Q01955	p.Gln829Glu	rs1215600092	missense variant	-	NC_000002.12:g.227281003C>G	gnomAD
COL4A3	Q01955	p.Gly830Ser	rs1283119232	missense variant	-	NC_000002.12:g.227281006G>A	TOPMed
COL4A3	Q01955	p.Gly833Asp	rs779489401	missense variant	-	NC_000002.12:g.227282374G>A	ExAC,gnomAD
COL4A3	Q01955	p.Lys834Arg	RCV000710815	missense variant	-	NC_000002.12:g.227282377A>G	ClinVar
COL4A3	Q01955	p.Lys834Arg	rs56226424	missense variant	-	NC_000002.12:g.227282377A>G	UniProt,dbSNP
COL4A3	Q01955	p.Lys834Arg	VAR_061118	missense variant	-	NC_000002.12:g.227282377A>G	UniProt
COL4A3	Q01955	p.Lys834Arg	rs56226424	missense variant	-	NC_000002.12:g.227282377A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr835Met	rs374379775	missense variant	-	NC_000002.12:g.227282380C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly836Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227282383G>A	NCI-TCGA
COL4A3	Q01955	p.Lys838Asn	rs770451401	missense variant	-	NC_000002.12:g.227282390G>C	ExAC,TOPMed
COL4A3	Q01955	p.Gly839Glu	rs267599233	missense variant	-	NC_000002.12:g.227282392G>A	TOPMed
COL4A3	Q01955	p.Asp840Asn	rs1199126229	missense variant	-	NC_000002.12:g.227282394G>A	TOPMed
COL4A3	Q01955	p.Pro841Ser	rs759226767	missense variant	-	NC_000002.12:g.227282397C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly842Glu	COSM4398207	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282401G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Ile843Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227282404T>A	NCI-TCGA
COL4A3	Q01955	p.Pro844Leu	rs1385197225	missense variant	-	NC_000002.12:g.227282407C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Leu846Ter	RCV000668688	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227282411del	ClinVar
COL4A3	Q01955	p.Arg848Thr	rs1381114441	missense variant	-	NC_000002.12:g.227282419G>C	gnomAD
COL4A3	Q01955	p.Gly850Val	rs1454995836	missense variant	-	NC_000002.12:g.227282425G>T	gnomAD
COL4A3	Q01955	p.Phe851Tyr	rs762816967	missense variant	-	NC_000002.12:g.227282428T>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly853Ter	rs763726708	stop gained	-	NC_000002.12:g.227282433G>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly853Arg	rs763726708	missense variant	-	NC_000002.12:g.227282433G>A	ExAC,gnomAD
COL4A3	Q01955	p.Glu854Lys	rs1281398240	missense variant	-	NC_000002.12:g.227282436G>A	gnomAD
COL4A3	Q01955	p.Thr855LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227282437A>-	NCI-TCGA
COL4A3	Q01955	p.Gly856Glu	COSM1017343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282443G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Ser857Pro	rs757208504	missense variant	-	NC_000002.12:g.227282445T>C	ExAC,gnomAD
COL4A3	Q01955	p.Pro858Leu	COSM70257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282449C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Ile860Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227282456T>G	NCI-TCGA
COL4A3	Q01955	p.Pro861Ala	rs1305817169	missense variant	-	NC_000002.12:g.227282457C>G	TOPMed
COL4A3	Q01955	p.Pro861Leu	rs1276231358	missense variant	-	NC_000002.12:g.227282458C>T	gnomAD
COL4A3	Q01955	p.His863Tyr	rs1204172430	missense variant	-	NC_000002.12:g.227282463C>T	gnomAD
COL4A3	Q01955	p.Gln864Arg	COSM1017345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282467A>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly865Ser	RCV000710816	missense variant	-	NC_000002.12:g.227282469G>A	ClinVar
COL4A3	Q01955	p.Glu866Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227282472G>A	NCI-TCGA
COL4A3	Q01955	p.Met867Ile	rs1237514825	missense variant	-	NC_000002.12:g.227282477G>A	gnomAD
COL4A3	Q01955	p.Pro869Thr	rs1444212051	missense variant	-	NC_000002.12:g.227282481C>A	TOPMed
COL4A3	Q01955	p.Gly871Ala	rs1402894646	missense variant	-	NC_000002.12:g.227282488G>C	TOPMed
COL4A3	Q01955	p.Pro876Thr	rs1400717937	missense variant	-	NC_000002.12:g.227282502C>A	TOPMed
COL4A3	Q01955	p.Gly877Glu	COSM3578480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282506G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro879Leu	rs368342782	missense variant	-	NC_000002.12:g.227282512C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly880Glu	COSM3578482	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227282515G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly883Arg	RCV000681728	missense variant	-	NC_000002.12:g.227282523G>A	ClinVar
COL4A3	Q01955	p.Pro884Ser	rs1363365346	missense variant	-	NC_000002.12:g.227282526C>T	TOPMed
COL4A3	Q01955	p.Pro885Ser	rs1404282904	missense variant	-	NC_000002.12:g.227282529C>T	gnomAD
COL4A3	Q01955	p.Glu887Lys	rs1460910053	missense variant	-	NC_000002.12:g.227283769G>A	gnomAD
COL4A3	Q01955	p.Glu887Val	COSM1306496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227283770A>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Asp888Glu	rs755114611	missense variant	-	NC_000002.12:g.227283774T>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp888Asn	rs376762135	missense variant	-	NC_000002.12:g.227283772G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile891Thr	rs765193194	missense variant	-	NC_000002.12:g.227283782T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly892Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227283785G>A	NCI-TCGA
COL4A3	Q01955	p.Met893Thr	rs758527772	missense variant	-	NC_000002.12:g.227283788T>C	ExAC,gnomAD
COL4A3	Q01955	p.Met893Ile	COSM720424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227283789G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Met894Thr	rs778240614	missense variant	-	NC_000002.12:g.227283791T>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly895Asp	rs1553760558	missense variant	-	NC_000002.12:g.227283794G>A	-
COL4A3	Q01955	p.Gly895Asp	RCV000625572	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227283794G>A	ClinVar
COL4A3	Q01955	p.Phe896Ile	rs747329097	missense variant	-	NC_000002.12:g.227283796T>A	ExAC,gnomAD
COL4A3	Q01955	p.Ile900Thr	RCV000595829	missense variant	-	NC_000002.12:g.227283809T>C	ClinVar
COL4A3	Q01955	p.Ile900Thr	rs201665434	missense variant	-	NC_000002.12:g.227283809T>C	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro902Leu	rs1400069211	missense variant	-	NC_000002.12:g.227283815C>T	TOPMed
COL4A3	Q01955	p.Pro902Thr	rs1219595266	missense variant	-	NC_000002.12:g.227283814C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Pro902Ser	rs1219595266	missense variant	-	NC_000002.12:g.227283814C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gly904Glu	rs1174417447	missense variant	-	NC_000002.12:g.227283821G>A	TOPMed
COL4A3	Q01955	p.Pro905Ser	rs1281787819	missense variant	-	NC_000002.12:g.227283823C>T	gnomAD
COL4A3	Q01955	p.Pro905Leu	rs1490410896	missense variant	-	NC_000002.12:g.227283824C>T	gnomAD
COL4A3	Q01955	p.Pro906Thr	rs1157123820	missense variant	-	NC_000002.12:g.227283826C>A	TOPMed
COL4A3	Q01955	p.Gly907Glu	rs1427118369	missense variant	-	NC_000002.12:g.227283830G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly910Cys	rs749014254	missense variant	-	NC_000002.12:g.227283838G>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly910Asp	COSM3719000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227283839G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro912Ala	rs774264149	missense variant	-	NC_000002.12:g.227283844C>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro912Ser	rs774264149	missense variant	-	NC_000002.12:g.227283844C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly913Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227283847G>T	NCI-TCGA
COL4A3	Q01955	p.Gln914Lys	rs761717909	missense variant	-	NC_000002.12:g.227283850C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln914His	COSM6157226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227283852G>C	NCI-TCGA Cosmic
COL4A3	Q01955	p.Arg915Thr	rs1425473176	missense variant	-	NC_000002.12:g.227283854G>C	gnomAD
COL4A3	Q01955	p.Ser917Asn	RCV000483341	missense variant	-	NC_000002.12:g.227284214G>A	ClinVar
COL4A3	Q01955	p.Ser917Asn	rs773119622	missense variant	-	NC_000002.12:g.227284214G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro918Leu	rs770768915	missense variant	-	NC_000002.12:g.227284217C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro918Ser	rs760736325	missense variant	-	NC_000002.12:g.227284216C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly919Val	rs1445819062	missense variant	-	NC_000002.12:g.227284220G>T	gnomAD
COL4A3	Q01955	p.Pro921Ala	rs775697039	missense variant	-	NC_000002.12:g.227284225C>G	ExAC,gnomAD
COL4A3	Q01955	p.Gly922Glu	rs920413118	missense variant	-	NC_000002.12:g.227284229G>A	TOPMed
COL4A3	Q01955	p.Gly922Arg	rs1405970656	missense variant	-	NC_000002.12:g.227284228G>C	gnomAD
COL4A3	Q01955	p.Gly922Val	rs920413118	missense variant	-	NC_000002.12:g.227284229G>T	TOPMed
COL4A3	Q01955	p.Gly922Val	RCV000674326	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227284229G>T	ClinVar
COL4A3	Q01955	p.Val923Ter	RCV000666969	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227284232_227284242del	ClinVar
COL4A3	Q01955	p.Val923Ile	rs917860017	missense variant	-	NC_000002.12:g.227284231G>A	TOPMed
COL4A3	Q01955	p.Val923Ter	RCV000729022	frameshift	-	NC_000002.12:g.227284232_227284242del	ClinVar
COL4A3	Q01955	p.Lys924Thr	rs1160128164	missense variant	-	NC_000002.12:g.227284235A>C	gnomAD
COL4A3	Q01955	p.Gln926His	rs1376792630	missense variant	-	NC_000002.12:g.227284242G>C	gnomAD
COL4A3	Q01955	p.Thr929Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227284249A>G	NCI-TCGA
COL4A3	Q01955	p.Gly931Glu	rs1468070875	missense variant	-	NC_000002.12:g.227284256G>A	gnomAD
COL4A3	Q01955	p.Ala932Ser	rs1338508417	missense variant	-	NC_000002.12:g.227284258G>T	TOPMed,gnomAD
COL4A3	Q01955	p.Lys933ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227284261A>-	NCI-TCGA
COL4A3	Q01955	p.Gly934Arg	rs199956740	missense variant	-	NC_000002.12:g.227284264G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Glu935AsnPheSerTerUnkUnk	rs751695390	frameshift	-	NC_000002.12:g.227284263G>-	NCI-TCGA
COL4A3	Q01955	p.Glu935Val	rs751807485	missense variant	-	NC_000002.12:g.227284268A>T	ExAC,gnomAD
COL4A3	Q01955	p.Gln936Ter	rs540666025	stop gained	-	NC_000002.12:g.227284270C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln936Lys	rs540666025	missense variant	-	NC_000002.12:g.227284270C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly937Glu	RCV000681806	missense variant	-	NC_000002.12:g.227284274G>A	ClinVar
COL4A3	Q01955	p.Gly937Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227284273G>T	NCI-TCGA
COL4A3	Q01955	p.Asp938Gly	rs202161876	missense variant	-	NC_000002.12:g.227284277A>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly940Glu	COSM3578486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227284283G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Asn941Lys	rs1323214141	missense variant	-	NC_000002.12:g.227284287T>A	TOPMed,gnomAD
COL4A3	Q01955	p.Pro942Arg	rs947902380	missense variant	-	NC_000002.12:g.227284289C>G	TOPMed
COL4A3	Q01955	p.Gly943Arg	RCV000669556	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227284291G>A	ClinVar
COL4A3	Q01955	p.Gly943Arg	rs1265432530	missense variant	-	NC_000002.12:g.227284291G>A	gnomAD
COL4A3	Q01955	p.Pro944Ser	rs780443142	missense variant	-	NC_000002.12:g.227284294C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro944His	COSM1017347	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227284295C>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Ser945Ala	rs754307075	missense variant	-	NC_000002.12:g.227284297T>G	ExAC,gnomAD
COL4A3	Q01955	p.Glu946Lys	rs1481663157	missense variant	-	NC_000002.12:g.227284300G>A	gnomAD
COL4A3	Q01955	p.His949Pro	rs754481221	missense variant	-	NC_000002.12:g.227284310A>C	ExAC,gnomAD
COL4A3	Q01955	p.Val950Ile	rs200044988	missense variant	-	NC_000002.12:g.227284312G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile951Lys	rs1429805281	missense variant	-	NC_000002.12:g.227284316T>A	TOPMed,gnomAD
COL4A3	Q01955	p.Ile951Met	rs1409239403	missense variant	-	NC_000002.12:g.227284317A>G	gnomAD
COL4A3	Q01955	p.Ile951Thr	rs1429805281	missense variant	-	NC_000002.12:g.227284316T>C	TOPMed,gnomAD
COL4A3	Q01955	p.Gly952Glu	rs1168237406	missense variant	-	NC_000002.12:g.227284319G>A	gnomAD
COL4A3	Q01955	p.Asp953His	rs1350367419	missense variant	-	NC_000002.12:g.227284321G>C	TOPMed
COL4A3	Q01955	p.Gly955Arg	rs771818723	missense variant	-	NC_000002.12:g.227284327G>A	ExAC,gnomAD
COL4A3	Q01955	p.Glu956Asp	rs777778320	missense variant	-	NC_000002.12:g.227284332A>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro957Arg	rs1343220469	missense variant	-	NC_000002.12:g.227284334C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Pro957Gln	rs1343220469	missense variant	-	NC_000002.12:g.227284334C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Pro957Thr	rs1292486017	missense variant	-	NC_000002.12:g.227284333C>A	gnomAD
COL4A3	Q01955	p.Pro957Leu	rs1343220469	missense variant	-	NC_000002.12:g.227284334C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gly958Val	rs1375959023	missense variant	-	NC_000002.12:g.227284337G>T	TOPMed
COL4A3	Q01955	p.Lys960Glu	rs746766677	missense variant	-	NC_000002.12:g.227284342A>G	ExAC,gnomAD
COL4A3	Q01955	p.Gly961Ala	rs1357390455	missense variant	-	NC_000002.12:g.227289150G>C	gnomAD
COL4A3	Q01955	p.Gly961Glu	rs1357390455	missense variant	-	NC_000002.12:g.227289150G>A	gnomAD
COL4A3	Q01955	p.Gly961Arg	rs1285576172	missense variant	-	NC_000002.12:g.227284345G>A	gnomAD
COL4A3	Q01955	p.Ala963Pro	rs200801946	missense variant	-	NC_000002.12:g.227289155G>C	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala963Thr	rs200801946	missense variant	-	NC_000002.12:g.227289155G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly964Arg	rs1446680986	missense variant	-	NC_000002.12:g.227289158G>A	gnomAD
COL4A3	Q01955	p.Gly964Glu	COSM3578490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227289159G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro966Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227289164C>T	NCI-TCGA
COL4A3	Q01955	p.Gly970Glu	COSM3909742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227289177G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly973Ser	rs529090890	missense variant	-	NC_000002.12:g.227289185G>A	1000Genomes
COL4A3	Q01955	p.Val974Ile	rs777581994	missense variant	-	NC_000002.12:g.227289188G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro975Ala	rs746604076	missense variant	-	NC_000002.12:g.227289191C>G	ExAC,gnomAD
COL4A3	Q01955	p.Gly976Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227289195G>A	NCI-TCGA
COL4A3	Q01955	p.Pro978Gln	rs1205708798	missense variant	-	NC_000002.12:g.227289201C>A	TOPMed
COL4A3	Q01955	p.Gly982Asp	rs371185804	missense variant	-	NC_000002.12:g.227289213G>A	ESP
COL4A3	Q01955	p.Gly982Ser	rs1445946933	missense variant	-	NC_000002.12:g.227289212G>A	gnomAD
COL4A3	Q01955	p.Leu983His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227289216T>A	NCI-TCGA
COL4A3	Q01955	p.Gly985Val	RCV000485138	missense variant	-	NC_000002.12:g.227289222G>T	ClinVar
COL4A3	Q01955	p.Gly985Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227289221G>A	NCI-TCGA
COL4A3	Q01955	p.Gly985Glu	rs121912827	missense variant	-	NC_000002.12:g.227289222G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly985Val	rs121912827	missense variant	-	NC_000002.12:g.227289222G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly985Val	rs121912827	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227289222G>T	UniProt,dbSNP
COL4A3	Q01955	p.Gly985Val	VAR_030948	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227289222G>T	UniProt
COL4A3	Q01955	p.Gly988Arg	rs769683665	missense variant	-	NC_000002.12:g.227289230G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro989Gln	rs748243984	missense variant	-	NC_000002.12:g.227289234C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro989Ala	rs774477588	missense variant	-	NC_000002.12:g.227289233C>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro989Ser	rs774477588	missense variant	-	NC_000002.12:g.227289233C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro989Leu	rs748243984	missense variant	-	NC_000002.12:g.227289234C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala990Val	rs1270902917	missense variant	-	NC_000002.12:g.227289237C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Pro992Gln	rs772076791	missense variant	-	NC_000002.12:g.227289243C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro992Leu	rs772076791	missense variant	-	NC_000002.12:g.227289243C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg996Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227290005G>A	NCI-TCGA
COL4A3	Q01955	p.Arg996Thr	rs1222637411	missense variant	-	NC_000002.12:g.227290005G>C	gnomAD
COL4A3	Q01955	p.Gly997Glu	RCV000667045	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227290008G>A	ClinVar
COL4A3	Q01955	p.Gly997Glu	rs1553762113	missense variant	-	NC_000002.12:g.227290008G>A	-
COL4A3	Q01955	p.Gly1000Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227290017G>A	NCI-TCGA
COL4A3	Q01955	p.Thr1002Ile	rs756098644	missense variant	-	NC_000002.12:g.227290023C>T	ExAC
COL4A3	Q01955	p.Gly1003Arg	rs1214122319	missense variant	-	NC_000002.12:g.227290025G>A	TOPMed
COL4A3	Q01955	p.Pro1008Gln	rs981689853	missense variant	-	NC_000002.12:g.227290041C>A	TOPMed
COL4A3	Q01955	p.Gly1009Ala	rs1204230457	missense variant	-	NC_000002.12:g.227290044G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Arg1011Cys	rs73996408	missense variant	-	NC_000002.12:g.227290049C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1011His	rs772164474	missense variant	-	NC_000002.12:g.227290050G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1011Ser	rs73996408	missense variant	-	NC_000002.12:g.227290049C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1011Cys	RCV000252602	missense variant	-	NC_000002.12:g.227290049C>T	ClinVar
COL4A3	Q01955	p.Pro1014Ala	rs773321281	missense variant	-	NC_000002.12:g.227290058C>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro1014Ser	rs773321281	missense variant	-	NC_000002.12:g.227290058C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly1015Glu	rs121912826	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227290062G>A	UniProt,dbSNP
COL4A3	Q01955	p.Gly1015Glu	VAR_030949	missense variant	Hematuria, benign familial (BFH)	NC_000002.12:g.227290062G>A	UniProt
COL4A3	Q01955	p.Gly1015Glu	rs121912826	missense variant	-	NC_000002.12:g.227290062G>A	-
COL4A3	Q01955	p.Gly1015Glu	RCV000019041	missense variant	Benign familial hematuria (BFH)	NC_000002.12:g.227290062G>A	ClinVar
COL4A3	Q01955	p.Ser1016Asn	rs1479935022	missense variant	-	NC_000002.12:g.227290065G>A	gnomAD
COL4A3	Q01955	p.Met1017Thr	rs367691204	missense variant	-	NC_000002.12:g.227290068T>C	ESP,TOPMed,gnomAD
COL4A3	Q01955	p.Met1020Thr	rs202071907	missense variant	-	NC_000002.12:g.227290077T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met1020Lys	rs202071907	missense variant	-	NC_000002.12:g.227290077T>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met1020Val	COSM4092088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290076A>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Met1022Val	rs771180263	missense variant	-	NC_000002.12:g.227290082A>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1023Ter	RCV000485204	frameshift	-	NC_000002.12:g.227290086_227290087del	ClinVar
COL4A3	Q01955	p.Gly1024Arg	rs1478328374	missense variant	-	NC_000002.12:g.227290088G>C	TOPMed
COL4A3	Q01955	p.Gly1024Val	rs1219734287	missense variant	-	NC_000002.12:g.227290747G>T	gnomAD
COL4A3	Q01955	p.Ser1025Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227290750C>A	NCI-TCGA
COL4A3	Q01955	p.Gly1027Glu	COSM5903386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290756G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Lys1028Arg	COSM4893088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290759A>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Arg1029Lys	COSM4092090	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290762G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1030Glu	COSM3578492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290765G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Thr1031Ser	rs1293530920	missense variant	-	NC_000002.12:g.227290767A>T	gnomAD
COL4A3	Q01955	p.Gly1033GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227290773_227290774insA	NCI-TCGA
COL4A3	Q01955	p.Phe1034Ile	rs376750724	missense variant	-	NC_000002.12:g.227290776T>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1035Ser	rs773788933	missense variant	-	NC_000002.12:g.227290779C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro1035Leu	rs761396322	missense variant	-	NC_000002.12:g.227290780C>T	ExAC,gnomAD
COL4A3	Q01955	p.Arg1037Ter	rs766900945	stop gained	-	NC_000002.12:g.227290785C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1037Gln	rs760302213	missense variant	-	NC_000002.12:g.227290786G>A	ExAC,gnomAD
COL4A3	Q01955	p.Arg1037Ter	RCV000669678	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227290785C>T	ClinVar
COL4A3	Q01955	p.Arg1037Ter	RCV000735743	nonsense	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227290785C>T	ClinVar
COL4A3	Q01955	p.Ala1038Thr	rs766203944	missense variant	-	NC_000002.12:g.227290788G>A	ExAC,gnomAD
COL4A3	Q01955	p.Arg1040Thr	rs187864249	missense variant	-	NC_000002.12:g.227290795G>C	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Arg1040Lys	rs187864249	missense variant	-	NC_000002.12:g.227290795G>A	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Gly1042Ser	rs1383417789	missense variant	-	NC_000002.12:g.227290800G>A	gnomAD
COL4A3	Q01955	p.Pro1044Arg	rs1458658746	missense variant	-	NC_000002.12:g.227290807C>G	gnomAD
COL4A3	Q01955	p.Ile1046Val	rs1478306242	missense variant	-	NC_000002.12:g.227290812A>G	TOPMed
COL4A3	Q01955	p.Ile1046Thr	rs1382516119	missense variant	-	NC_000002.12:g.227290813T>C	gnomAD
COL4A3	Q01955	p.Gly1048Arg	RCV000681689	missense variant	-	NC_000002.12:g.227290818G>C	ClinVar
COL4A3	Q01955	p.Gln1050Ter	rs1553762279	stop gained	-	NC_000002.12:g.227290824C>T	-
COL4A3	Q01955	p.Gln1050Ter	RCV000667832	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227290824C>T	ClinVar
COL4A3	Q01955	p.Gly1051Ala	rs757387115	missense variant	-	NC_000002.12:g.227290828G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1051Glu	COSM3578494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290828G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1054Arg	rs1316595667	missense variant	-	NC_000002.12:g.227290836G>A	gnomAD
COL4A3	Q01955	p.Ser1059Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227290851T>A	NCI-TCGA
COL4A3	Q01955	p.Gly1061Cys	rs906000783	missense variant	-	NC_000002.12:g.227290857G>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1061Ala	rs202078295	missense variant	-	NC_000002.12:g.227290858G>C	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1061Ser	rs906000783	missense variant	-	NC_000002.12:g.227290857G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1061Asp	rs202078295	missense variant	-	NC_000002.12:g.227290858G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr1062Ala	rs749655271	missense variant	-	NC_000002.12:g.227290860A>G	ExAC,gnomAD
COL4A3	Q01955	p.Arg1063Lys	rs768841565	missense variant	-	NC_000002.12:g.227290864G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1065Glu	COSM1733946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227290870G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro1066Ser	RCV000392593	missense variant	Alport syndrome	NC_000002.12:g.227290872C>T	ClinVar
COL4A3	Q01955	p.Pro1066Ser	rs377003650	missense variant	-	NC_000002.12:g.227290872C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1066Leu	rs1181815898	missense variant	-	NC_000002.12:g.227290873C>T	gnomAD
COL4A3	Q01955	p.Pro1067Leu	rs55849096	missense variant	-	NC_000002.12:g.227290876C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1067Arg	RCV000625595	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227290876C>G	ClinVar
COL4A3	Q01955	p.Pro1067Arg	rs55849096	missense variant	-	NC_000002.12:g.227290876C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1067Ser	rs762181333	missense variant	-	NC_000002.12:g.227290875C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr1070Met	rs373628122	missense variant	-	NC_000002.12:g.227290885C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr1070Ala	rs766003244	missense variant	-	NC_000002.12:g.227290884A>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr1070Lys	rs373628122	missense variant	-	NC_000002.12:g.227290885C>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1071Glu	rs765128550	missense variant	-	NC_000002.12:g.227293192G>A	ExAC
COL4A3	Q01955	p.Leu1075Arg	rs775116314	missense variant	-	NC_000002.12:g.227293204T>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1076Leu	rs200984988	missense variant	-	NC_000002.12:g.227293207C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1077Asp	RCV000735738	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227293210G>A	ClinVar
COL4A3	Q01955	p.Gly1077Arg	rs756264539	missense variant	-	NC_000002.12:g.227293209G>C	ExAC,gnomAD
COL4A3	Q01955	p.Asp1078Ala	rs766520935	missense variant	-	NC_000002.12:g.227293213A>C	ExAC,gnomAD
COL4A3	Q01955	p.Met1079Lys	rs762799043	missense variant	-	NC_000002.12:g.227293216T>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met1079Ile	rs1183162500	missense variant	-	NC_000002.12:g.227293217G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Met1079Ile	rs1183162500	missense variant	-	NC_000002.12:g.227293217G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1080Arg	rs1267839034	missense variant	-	NC_000002.12:g.227293218G>A	gnomAD
COL4A3	Q01955	p.Gly1080Glu	rs755128292	missense variant	-	NC_000002.12:g.227293219G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly1080Ala	rs755128292	missense variant	-	NC_000002.12:g.227293219G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1083Glu	COSM720422	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227293228G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Glu1084Asp	rs766420056	missense variant	-	NC_000002.12:g.227293232A>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Glu1084Ter	rs1192750535	stop gained	-	NC_000002.12:g.227293230G>T	TOPMed,gnomAD
COL4A3	Q01955	p.Glu1084Lys	COSM3578500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227293230G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Glu1084Ter	RCV000517710	nonsense	-	NC_000002.12:g.227293230G>T	ClinVar
COL4A3	Q01955	p.Met1085Thr	rs769395979	missense variant	-	NC_000002.12:g.227293234T>C	TOPMed,gnomAD
COL4A3	Q01955	p.Met1085Ile	rs374427586	missense variant	-	NC_000002.12:g.227293235G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met1085Arg	rs769395979	missense variant	-	NC_000002.12:g.227293234T>G	TOPMed,gnomAD
COL4A3	Q01955	p.Pro1088Arg	rs747475655	missense variant	-	NC_000002.12:g.227293243C>G	ExAC
COL4A3	Q01955	p.Gly1089Ser	rs776095159	missense variant	-	NC_000002.12:g.227293245G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly1089Asp	COSM3578502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227293246G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1092Val	RCV000681714	missense variant	-	NC_000002.12:g.227293255G>T	ClinVar
COL4A3	Q01955	p.His1093Arg	rs1403456385	missense variant	-	NC_000002.12:g.227293258A>G	gnomAD
COL4A3	Q01955	p.Leu1094Ser	rs775409074	missense variant	-	NC_000002.12:g.227293261T>C	ExAC,gnomAD
COL4A3	Q01955	p.Pro1096Ser	rs1293438194	missense variant	-	NC_000002.12:g.227293266C>T	gnomAD
COL4A3	Q01955	p.Ala1097Gly	rs762665490	missense variant	-	NC_000002.12:g.227293270C>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1099Leu	rs1291280333	missense variant	-	NC_000002.12:g.227293276C>T	gnomAD
COL4A3	Q01955	p.Glu1100Lys	rs915171770	missense variant	-	NC_000002.12:g.227293278G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1101Glu	rs560592940	missense variant	-	NC_000002.12:g.227293282G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1102Asp	rs1475004950	missense variant	-	NC_000002.12:g.227293285C>A	gnomAD
COL4A3	Q01955	p.Ala1102Thr	rs368275495	missense variant	-	NC_000002.12:g.227293284G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1104Arg	rs766608954	missense variant	-	NC_000002.12:g.227293290G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser1105Asn	rs753862998	missense variant	-	NC_000002.12:g.227293294G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1107Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227293300G>A	NCI-TCGA
COL4A3	Q01955	p.Pro1109Ser	rs55816283	missense variant	-	NC_000002.12:g.227293305C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1109Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227293306C>T	NCI-TCGA
COL4A3	Q01955	p.Pro1109Ser	RCV000243309	missense variant	-	NC_000002.12:g.227293305C>T	ClinVar
COL4A3	Q01955	p.Pro1109Arg	rs373982111	missense variant	-	NC_000002.12:g.227293306C>G	1000Genomes,ESP,ExAC,gnomAD
COL4A3	Q01955	p.Gly1110Arg	rs752898968	missense variant	-	NC_000002.12:g.227293308G>C	ExAC,gnomAD
COL4A3	Q01955	p.Leu1111Ile	rs758795519	missense variant	-	NC_000002.12:g.227293311C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1112Leu	rs367929808	missense variant	-	NC_000002.12:g.227293315C>T	ESP
COL4A3	Q01955	p.Gly1113Ala	rs570327652	missense variant	-	NC_000002.12:g.227294490G>C	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Gly1116Ser	rs1468756313	missense variant	-	NC_000002.12:g.227294498G>A	gnomAD
COL4A3	Q01955	p.Pro1117Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227294502C>T	NCI-TCGA
COL4A3	Q01955	p.His1118Arg	rs763137687	missense variant	-	NC_000002.12:g.227294505A>G	ExAC,gnomAD
COL4A3	Q01955	p.His1118Gln	rs1435651752	missense variant	-	NC_000002.12:g.227294506T>A	gnomAD
COL4A3	Q01955	p.Gly1119Asp	rs764480728	missense variant	-	NC_000002.12:g.227294508G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly1125Ala	rs1473142299	missense variant	-	NC_000002.12:g.227294526G>C	gnomAD
COL4A3	Q01955	p.Ile1126Thr	rs756086396	missense variant	-	NC_000002.12:g.227294529T>C	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1128Ser	COSM3578504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227294534G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Leu1129Pro	rs751915745	missense variant	-	NC_000002.12:g.227294538T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu1129His	rs751915745	missense variant	-	NC_000002.12:g.227294538T>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1132Ser	rs781560058	missense variant	-	NC_000002.12:g.227294546C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro1132His	rs893516153	missense variant	-	NC_000002.12:g.227294547C>A	TOPMed
COL4A3	Q01955	p.Gly1137Asp	RCV000207687	missense variant	Benign familial hematuria (BFH)	NC_000002.12:g.227294562G>A	ClinVar
COL4A3	Q01955	p.Gly1137Asp	rs869025327	missense variant	-	NC_000002.12:g.227294562G>A	-
COL4A3	Q01955	p.Pro1139Leu	rs1057516186	missense variant	-	NC_000002.12:g.227294568C>T	-
COL4A3	Q01955	p.Pro1139Leu	RCV000408836	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227294568C>T	ClinVar
COL4A3	Q01955	p.Leu1141Phe	rs1242167042	missense variant	-	NC_000002.12:g.227294966C>T	gnomAD
COL4A3	Q01955	p.Pro1142Ser	rs1263987743	missense variant	-	NC_000002.12:g.227294969C>T	gnomAD
COL4A3	Q01955	p.Gly1143Arg	rs1489682011	missense variant	-	NC_000002.12:g.227294972G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Phe1144Tyr	rs1268707728	missense variant	-	NC_000002.12:g.227294976T>A	gnomAD
COL4A3	Q01955	p.Pro1145Ser	rs1210914620	missense variant	-	NC_000002.12:g.227294978C>T	gnomAD
COL4A3	Q01955	p.Gly1146Ala	COSM4845312	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227294982G>C	NCI-TCGA Cosmic
COL4A3	Q01955	p.Ser1147Phe	RCV000778596	missense variant	COL4A3-Related Disorders	NC_000002.12:g.227294985C>T	ClinVar
COL4A3	Q01955	p.Ser1147Phe	rs200107989	missense variant	-	NC_000002.12:g.227294985C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser1147Ala	rs777604057	missense variant	-	NC_000002.12:g.227294984T>G	ExAC,gnomAD
COL4A3	Q01955	p.Pro1148Ala	rs1190790049	missense variant	-	NC_000002.12:g.227294987C>G	TOPMed
COL4A3	Q01955	p.Pro1150Leu	rs1444179511	missense variant	-	NC_000002.12:g.227294994C>T	gnomAD
COL4A3	Q01955	p.Met1151Thr	rs775604302	missense variant	-	NC_000002.12:g.227294997T>C	ExAC
COL4A3	Q01955	p.Gly1152Arg	rs749383170	missense variant	-	NC_000002.12:g.227294999G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1152Ser	rs749383170	missense variant	-	NC_000002.12:g.227294999G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly1152Arg	RCV000672753	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227294999G>C	ClinVar
COL4A3	Q01955	p.Ile1153Val	rs768652257	missense variant	-	NC_000002.12:g.227295002A>G	ExAC,gnomAD
COL4A3	Q01955	p.Gly1155Ser	rs774583962	missense variant	-	NC_000002.12:g.227295008G>A	ExAC,gnomAD
COL4A3	Q01955	p.Asp1156Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227295011G>A	NCI-TCGA
COL4A3	Q01955	p.Gln1157His	rs761971869	missense variant	-	NC_000002.12:g.227295016A>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1158Arg	rs914878176	missense variant	-	NC_000002.12:g.227295017G>C	TOPMed
COL4A3	Q01955	p.Gly1158Arg	RCV000672819	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227295017G>C	ClinVar
COL4A3	Q01955	p.Arg1159His	rs145948549	missense variant	-	NC_000002.12:g.227295021G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1159Ser	rs142376694	missense variant	-	NC_000002.12:g.227295020C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1159Cys	rs142376694	missense variant	-	NC_000002.12:g.227295020C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp1160Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227295023G>A	NCI-TCGA
COL4A3	Q01955	p.Pro1165Ser	rs1381421185	missense variant	-	NC_000002.12:g.227295038C>T	gnomAD
COL4A3	Q01955	p.Ala1166Pro	rs574443391	missense variant	-	NC_000002.12:g.227295041G>C	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Ala1166Val	COSM1017349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227295042C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1167Arg	RCV000681815	missense variant	-	NC_000002.12:g.227295044G>A	ClinVar
COL4A3	Q01955	p.Gly1167Arg	rs267606745	missense variant	-	NC_000002.12:g.227295044G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Lys1169Arg	rs1245954589	missense variant	-	NC_000002.12:g.227295051A>G	gnomAD
COL4A3	Q01955	p.Glu1171Asp	rs1211143950	missense variant	-	NC_000002.12:g.227295058A>C	gnomAD
COL4A3	Q01955	p.Thr1172Met	rs373950389	missense variant	-	NC_000002.12:g.227295060C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1173Val	rs763820297	missense variant	-	NC_000002.12:g.227295269G>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly1173Asp	COSM1017353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227295269G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Leu1174Val	rs886396005	missense variant	-	NC_000002.12:g.227295271T>G	TOPMed,gnomAD
COL4A3	Q01955	p.Arg1176Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227295279G>T	NCI-TCGA
COL4A3	Q01955	p.Ala1177Ser	rs1431423014	missense variant	-	NC_000002.12:g.227295280G>T	gnomAD
COL4A3	Q01955	p.Asn1184Lys	rs374145134	missense variant	-	NC_000002.12:g.227295303C>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1185Leu	rs1427036025	missense variant	-	NC_000002.12:g.227295305C>T	TOPMed
COL4A3	Q01955	p.Pro1185Ser	rs780912446	missense variant	-	NC_000002.12:g.227295304C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly1186Arg	rs1305836268	missense variant	-	NC_000002.12:g.227295307G>C	gnomAD
COL4A3	Q01955	p.Ala1190Thr	rs1295568138	missense variant	-	NC_000002.12:g.227297676G>A	gnomAD
COL4A3	Q01955	p.Ala1190Ser	rs1295568138	missense variant	-	NC_000002.12:g.227297676G>T	gnomAD
COL4A3	Q01955	p.Asp1193Asn	RCV000600771	missense variant	-	NC_000002.12:g.227297685G>A	ClinVar
COL4A3	Q01955	p.Asp1193Asn	rs972796332	missense variant	-	NC_000002.12:g.227297685G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Arg1194Ser	rs761347389	missense variant	-	NC_000002.12:g.227297690G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1195Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227297692G>A	NCI-TCGA
COL4A3	Q01955	p.Ala1196Val	rs1288823583	missense variant	-	NC_000002.12:g.227297695C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Pro1197Gln	COSM720420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227297698C>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1198Asp	rs755849032	missense variant	-	NC_000002.12:g.227297701G>A	ExAC,gnomAD
COL4A3	Q01955	p.Phe1199Ile	rs779975412	missense variant	-	NC_000002.12:g.227297703T>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Phe1199Leu	rs779975412	missense variant	-	NC_000002.12:g.227297703T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1203Gln	rs758528330	missense variant	-	NC_000002.12:g.227297716C>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1203Ser	rs200884685	missense variant	-	NC_000002.12:g.227297715C>T	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Pro1203Leu	rs758528330	missense variant	-	NC_000002.12:g.227297716C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro1203Arg	rs758528330	missense variant	-	NC_000002.12:g.227297716C>G	ExAC,gnomAD
COL4A3	Q01955	p.Arg1205Thr	rs747299532	missense variant	-	NC_000002.12:g.227297722G>C	ExAC
COL4A3	Q01955	p.Arg1205Gly	rs1403919583	missense variant	-	NC_000002.12:g.227297721A>G	gnomAD
COL4A3	Q01955	p.Gly1207Arg	rs1167411352	missense variant	-	NC_000002.12:g.227297727G>C	gnomAD
COL4A3	Q01955	p.Gly1207Glu	rs1553764136	missense variant	-	NC_000002.12:g.227297728G>A	-
COL4A3	Q01955	p.Gly1207Glu	RCV000518270	missense variant	-	NC_000002.12:g.227297728G>A	ClinVar
COL4A3	Q01955	p.Gly1207Glu	VAR_011212	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
COL4A3	Q01955	p.Met1209Ile	rs200562865	missense variant	-	NC_000002.12:g.227297735G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met1209Ile	RCV000614650	missense variant	-	NC_000002.12:g.227297735G>A	ClinVar
COL4A3	Q01955	p.Asp1211Gly	rs376091129	missense variant	-	NC_000002.12:g.227297740A>G	ESP,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1214Leu	rs1480138301	missense variant	-	NC_000002.12:g.227297749C>T	TOPMed
COL4A3	Q01955	p.Arg1215Ter	rs368434069	stop gained	-	NC_000002.12:g.227297751C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1215Gln	rs200443942	missense variant	-	NC_000002.12:g.227297752G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1215Ter	RCV000760445	nonsense	-	NC_000002.12:g.227297751C>T	ClinVar
COL4A3	Q01955	p.Gly1216Ala	rs1283786496	missense variant	-	NC_000002.12:g.227297755G>C	gnomAD
COL4A3	Q01955	p.Gly1216Arg	VAR_030950	Missense	Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]	-	UniProt
COL4A3	Q01955	p.Gly1219Val	rs1377308421	missense variant	-	NC_000002.12:g.227297764G>T	gnomAD
COL4A3	Q01955	p.Ile1220Thr	rs1229811135	missense variant	-	NC_000002.12:g.227297767T>C	gnomAD
COL4A3	Q01955	p.Ile1220Met	rs776091606	missense variant	-	NC_000002.12:g.227297768A>G	ExAC,gnomAD
COL4A3	Q01955	p.Ile1220Arg	rs1229811135	missense variant	-	NC_000002.12:g.227297767T>G	gnomAD
COL4A3	Q01955	p.Glu1221Val	rs975313876	missense variant	-	NC_000002.12:g.227297770A>T	TOPMed
COL4A3	Q01955	p.Glu1221Lys	rs957295374	missense variant	-	NC_000002.12:g.227297769G>A	TOPMed
COL4A3	Q01955	p.Phe1223Ile	rs763319182	missense variant	-	NC_000002.12:g.227297775T>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly1225Glu	rs1464979875	missense variant	-	NC_000002.12:g.227297782G>A	gnomAD
COL4A3	Q01955	p.Gly1225Arg	rs1269422297	missense variant	-	NC_000002.12:g.227297781G>A	gnomAD
COL4A3	Q01955	p.Gly1225Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227297781G>T	NCI-TCGA
COL4A3	Q01955	p.Pro1226Ser	rs1186273561	missense variant	-	NC_000002.12:g.227297784C>T	gnomAD
COL4A3	Q01955	p.Pro1226Leu	rs762149708	missense variant	-	NC_000002.12:g.227297785C>T	gnomAD
COL4A3	Q01955	p.Pro1227Ala	rs1473607802	missense variant	-	NC_000002.12:g.227297787C>G	gnomAD
COL4A3	Q01955	p.Pro1227Ser	COSM3838765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227297787C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1228Arg	RCV000761269	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227297790G>C	ClinVar
COL4A3	Q01955	p.Gly1228Asp	rs1183958961	missense variant	-	NC_000002.12:g.227297791G>A	gnomAD
COL4A3	Q01955	p.Gly1228Val	rs1183958961	missense variant	-	NC_000002.12:g.227297791G>T	gnomAD
COL4A3	Q01955	p.Pro1230Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227297796C>A	NCI-TCGA
COL4A3	Q01955	p.Gly1231Ser	rs761518401	missense variant	-	NC_000002.12:g.227297799G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1231Asp	COSM1017355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227297800G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1231Ser	RCV000670065	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227297799G>A	ClinVar
COL4A3	Q01955	p.Ala1232Val	rs767171618	missense variant	-	NC_000002.12:g.227297803C>T	ExAC,gnomAD
COL4A3	Q01955	p.Ile1234Met	rs766113758	missense variant	-	NC_000002.12:g.227297810C>G	ExAC,gnomAD
COL4A3	Q01955	p.Ile1234Asn	rs55825399	missense variant	-	NC_000002.12:g.227297809T>A	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Ile1234Thr	rs55825399	missense variant	-	NC_000002.12:g.227297809T>C	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Pro1235Arg	rs955042051	missense variant	-	NC_000002.12:g.227297812C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Thr1238Lys	rs528758931	missense variant	-	NC_000002.12:g.227297821C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr1238Arg	rs528758931	missense variant	-	NC_000002.12:g.227297821C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1241Cys	rs369551948	missense variant	-	NC_000002.12:g.227297829C>T	ESP,ExAC,gnomAD
COL4A3	Q01955	p.Arg1241His	rs201841428	missense variant	-	NC_000002.12:g.227297830G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1245Asp	rs1275973987	missense variant	-	NC_000002.12:g.227297842G>A	gnomAD
COL4A3	Q01955	p.Ser1246Ter	rs1400784100	stop gained	-	NC_000002.12:g.227297845C>G	TOPMed
COL4A3	Q01955	p.Arg1247Ser	rs1443717801	missense variant	-	NC_000002.12:g.227297849A>T	gnomAD
COL4A3	Q01955	p.Ala1252Glu	rs761179248	missense variant	-	NC_000002.12:g.227298685C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1252Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227298684G>A	NCI-TCGA
COL4A3	Q01955	p.Ala1252Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227298684G>T	NCI-TCGA
COL4A3	Q01955	p.Ala1252Val	rs761179248	missense variant	-	NC_000002.12:g.227298685C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1253Thr	rs1241462554	missense variant	-	NC_000002.12:g.227298687C>A	gnomAD
COL4A3	Q01955	p.Gly1254Arg	rs1273438729	missense variant	-	NC_000002.12:g.227298690G>C	gnomAD
COL4A3	Q01955	p.Pro1255His	rs759579368	missense variant	-	NC_000002.12:g.227298694C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1255Leu	rs759579368	missense variant	-	NC_000002.12:g.227298694C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1258Thr	rs752611633	missense variant	-	NC_000002.12:g.227298702C>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1258Leu	rs757440842	missense variant	-	NC_000002.12:g.227298703C>T	ExAC,gnomAD
COL4A3	Q01955	p.Ser1261Asn	rs1375956660	missense variant	-	NC_000002.12:g.227298712G>A	TOPMed,gnomAD
COL4A3	Q01955	p.His1262Gln	rs768991487	missense variant	-	NC_000002.12:g.227298716T>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val1263Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227298717G>A	NCI-TCGA
COL4A3	Q01955	p.Ile1264Val	rs1553764410	missense variant	-	NC_000002.12:g.227298720A>G	-
COL4A3	Q01955	p.Ile1264Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227298720A>C	NCI-TCGA
COL4A3	Q01955	p.Ile1264Val	RCV000505537	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227298720A>G	ClinVar
COL4A3	Q01955	p.Ile1264Thr	rs780533498	missense variant	-	NC_000002.12:g.227298721T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile1266Leu	rs1309549929	missense variant	-	NC_000002.12:g.227298726A>C	gnomAD
COL4A3	Q01955	p.Ile1266Thr	rs1396962991	missense variant	-	NC_000002.12:g.227298727T>C	gnomAD
COL4A3	Q01955	p.Gly1268Ala	COSM418840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227298733G>C	NCI-TCGA Cosmic
COL4A3	Q01955	p.Asp1269His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227298735G>C	NCI-TCGA
COL4A3	Q01955	p.Asp1269Glu	RCV000385929	missense variant	Alport syndrome	NC_000002.12:g.227298737C>A	ClinVar
COL4A3	Q01955	p.Asp1269Glu	rs57611801	missense variant	-	NC_000002.12:g.227298737C>A	UniProt,dbSNP
COL4A3	Q01955	p.Asp1269Glu	VAR_011214	missense variant	-	NC_000002.12:g.227298737C>A	UniProt
COL4A3	Q01955	p.Asp1269Glu	rs57611801	missense variant	-	NC_000002.12:g.227298737C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp1269Val	rs749600773	missense variant	-	NC_000002.12:g.227298736A>T	ExAC,gnomAD
COL4A3	Q01955	p.Ser1272Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227298745C>A	NCI-TCGA
COL4A3	Q01955	p.Ser1272Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227298745C>T	NCI-TCGA
COL4A3	Q01955	p.Ser1272Ter	RCV000735672	frameshift	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227298743del	ClinVar
COL4A3	Q01955	p.Met1273Ile	rs1001960472	missense variant	-	NC_000002.12:g.227298749G>T	TOPMed
COL4A3	Q01955	p.Gly1274Ser	RCV000681946	missense variant	-	NC_000002.12:g.227298750G>A	ClinVar
COL4A3	Q01955	p.His1275Gln	rs143380907	missense variant	-	NC_000002.12:g.227298755C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1276Leu	rs746735368	missense variant	-	NC_000002.12:g.227298757C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly1277Ser	RCV000727653	missense variant	-	NC_000002.12:g.227298759G>A	ClinVar
COL4A3	Q01955	p.Gly1277Ser	rs190598500	missense variant	-	NC_000002.12:g.227298759G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Lys1279Thr	rs776291901	missense variant	-	NC_000002.12:g.227298766A>C	ExAC,gnomAD
COL4A3	Q01955	p.Pro1281Leu	rs1334185849	missense variant	-	NC_000002.12:g.227298772C>T	gnomAD
COL4A3	Q01955	p.Gly1283Arg	rs1436860005	missense variant	-	NC_000002.12:g.227298777G>A	TOPMed
COL4A3	Q01955	p.Thr1284PheSerThrSerSerSerCysTyrLeuVal	NCI-TCGA novel	insertion	-	NC_000002.12:g.227298781_227298782insGTTTTCAACCTCCTCCTCATGTTACCTTGT	NCI-TCGA
COL4A3	Q01955	p.Thr1284Ala	rs1209658021	missense variant	-	NC_000002.12:g.227298780A>G	gnomAD
COL4A3	Q01955	p.Gly1286Arg	rs759251186	missense variant	-	NC_000002.12:g.227298786G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met1288Ile	rs1194331336	missense variant	-	NC_000002.12:g.227298794G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Pro1290Ser	rs956480982	missense variant	-	NC_000002.12:g.227298798C>T	TOPMed
COL4A3	Q01955	p.Gly1292Ser	rs1247495101	missense variant	-	NC_000002.12:g.227298804G>A	gnomAD
COL4A3	Q01955	p.Arg1293His	rs201095498	missense variant	-	NC_000002.12:g.227298808G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1293Cys	COSM4092096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227298807C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Ala1296Thr	rs1044185049	missense variant	-	NC_000002.12:g.227303041G>A	gnomAD
COL4A3	Q01955	p.Ala1296Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227303041G>T	NCI-TCGA
COL4A3	Q01955	p.Gly1301Cys	rs780735618	missense variant	-	NC_000002.12:g.227303056G>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly1301Ala	rs1475469085	missense variant	-	NC_000002.12:g.227303057G>C	gnomAD
COL4A3	Q01955	p.Gly1301Asp	rs1475469085	missense variant	-	NC_000002.12:g.227303057G>A	gnomAD
COL4A3	Q01955	p.Leu1302Phe	rs905632374	missense variant	-	NC_000002.12:g.227303059C>T	TOPMed
COL4A3	Q01955	p.Leu1302Ile	rs905632374	missense variant	-	NC_000002.12:g.227303059C>A	TOPMed
COL4A3	Q01955	p.Pro1303Arg	rs1158379307	missense variant	-	NC_000002.12:g.227303063C>G	gnomAD
COL4A3	Q01955	p.Pro1303Leu	rs1158379307	missense variant	-	NC_000002.12:g.227303063C>T	gnomAD
COL4A3	Q01955	p.Gly1307Asp	rs745473187	missense variant	-	NC_000002.12:g.227303075G>A	ExAC,gnomAD
COL4A3	Q01955	p.Asp1308Asn	rs1458335122	missense variant	-	NC_000002.12:g.227303077G>A	gnomAD
COL4A3	Q01955	p.Pro1309Ser	rs769522094	missense variant	-	NC_000002.12:g.227303080C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro1309Leu	rs775393699	missense variant	-	NC_000002.12:g.227303081C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1310Glu	rs1393930878	missense variant	-	NC_000002.12:g.227303084G>A	gnomAD
COL4A3	Q01955	p.Phe1311Val	rs557715458	missense variant	-	NC_000002.12:g.227303086T>G	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Phe1314Leu	rs774371026	missense variant	-	NC_000002.12:g.227303095T>C	ExAC,gnomAD
COL4A3	Q01955	p.Pro1315Ser	rs760703010	missense variant	-	NC_000002.12:g.227303098C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1316Ser	rs1462802406	missense variant	-	NC_000002.12:g.227303101G>A	gnomAD
COL4A3	Q01955	p.Val1317Met	rs200017859	missense variant	-	NC_000002.12:g.227303104G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1319Arg	RCV000415440	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227303110G>A	ClinVar
COL4A3	Q01955	p.Gly1319Arg	rs765661521	missense variant	-	NC_000002.12:g.227303110G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly1319Arg	rs765661521	missense variant	-	NC_000002.12:g.227303110G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1319Glu	rs1178734829	missense variant	-	NC_000002.12:g.227303859G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Lys1321Glu	rs375278276	missense variant	-	NC_000002.12:g.227303864A>G	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1322Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227303868G>T	NCI-TCGA
COL4A3	Q01955	p.Gly1322Cys	rs759739044	missense variant	-	NC_000002.12:g.227303867G>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly1322Ser	rs759739044	missense variant	-	NC_000002.12:g.227303867G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly1322Ser	RCV000171335	missense variant	-	NC_000002.12:g.227303867G>A	ClinVar
COL4A3	Q01955	p.Asn1323Lys	rs765460835	missense variant	-	NC_000002.12:g.227303872T>A	ExAC,gnomAD
COL4A3	Q01955	p.Asn1323Tyr	COSM6157224	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227303870A>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro1324Leu	rs1014469152	missense variant	-	NC_000002.12:g.227303874C>T	TOPMed
COL4A3	Q01955	p.Gly1325Arg	rs368351146	missense variant	-	NC_000002.12:g.227303876G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Phe1326Ser	rs201056180	missense variant	-	NC_000002.12:g.227303880T>C	1000Genomes
COL4A3	Q01955	p.Leu1327Ile	COSM1017361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227303882C>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1328Ala	rs372237167	missense variant	-	NC_000002.12:g.227303886G>C	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1328Arg	rs1168289818	missense variant	-	NC_000002.12:g.227303885G>A	gnomAD
COL4A3	Q01955	p.Gly1328Val	rs372237167	missense variant	-	NC_000002.12:g.227303886G>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser1329Cys	rs1390815554	missense variant	-	NC_000002.12:g.227303889C>G	TOPMed
COL4A3	Q01955	p.Ile1330Thr	rs767033956	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227303892T>C	UniProt,dbSNP
COL4A3	Q01955	p.Ile1330Thr	VAR_011216	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227303892T>C	UniProt
COL4A3	Q01955	p.Ile1330Thr	rs767033956	missense variant	-	NC_000002.12:g.227303892T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1332Arg	rs757747350	missense variant	-	NC_000002.12:g.227303898C>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1332Leu	rs757747350	missense variant	-	NC_000002.12:g.227303898C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1334Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227303903G>A	NCI-TCGA
COL4A3	Q01955	p.Gly1334Glu	rs375290088	missense variant	-	NC_000002.12:g.227303904G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1335Gln	rs749935887	missense variant	-	NC_000002.12:g.227303907C>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1335Leu	rs749935887	missense variant	-	NC_000002.12:g.227303907C>T	ExAC,gnomAD
COL4A3	Q01955	p.Ile1336Thr	rs1227955412	missense variant	-	NC_000002.12:g.227303910T>C	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1337Glu	rs779855573	missense variant	-	NC_000002.12:g.227303913G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1338Leu	rs1202995913	missense variant	-	NC_000002.12:g.227303916C>T	TOPMed
COL4A3	Q01955	p.Gly1340Glu	RCV000505590	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227303922G>A	ClinVar
COL4A3	Q01955	p.Gly1340Glu	rs748901402	missense variant	-	NC_000002.12:g.227303922G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1342Ala	rs1484007813	missense variant	-	NC_000002.12:g.227303927C>G	TOPMed
COL4A3	Q01955	p.Pro1342Leu	rs1487504289	missense variant	-	NC_000002.12:g.227303928C>T	gnomAD
COL4A3	Q01955	p.Arg1345Cys	rs369088928	missense variant	-	NC_000002.12:g.227304024C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1345His	rs553185617	missense variant	-	NC_000002.12:g.227304025G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp1347Glu	rs73996414	missense variant	-	NC_000002.12:g.227304032C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asp1347Glu	RCV000576378	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227304032C>A	ClinVar
COL4A3	Q01955	p.Asp1347Glu	RCV000600297	missense variant	-	NC_000002.12:g.227304032C>A	ClinVar
COL4A3	Q01955	p.Lys1352Arg	rs1404615907	missense variant	-	NC_000002.12:g.227304046A>G	TOPMed
COL4A3	Q01955	p.Ile1353Val	rs779233761	missense variant	-	NC_000002.12:g.227304048A>G	ExAC,gnomAD
COL4A3	Q01955	p.Leu1356Val	COSM1017363	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227304057C>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro1360Arg	rs1179787677	missense variant	-	NC_000002.12:g.227304070C>G	TOPMed
COL4A3	Q01955	p.Gly1361Glu	rs1474483369	missense variant	-	NC_000002.12:g.227304073G>A	gnomAD
COL4A3	Q01955	p.Pro1363Ala	rs1167775872	missense variant	-	NC_000002.12:g.227304078C>G	gnomAD
COL4A3	Q01955	p.Pro1363His	rs1395903328	missense variant	-	NC_000002.12:g.227304079C>A	TOPMed,gnomAD
COL4A3	Q01955	p.Thr1365Ile	rs992519969	missense variant	-	NC_000002.12:g.227304085C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1367Ala	rs886055742	missense variant	-	NC_000002.12:g.227304091G>C	TOPMed
COL4A3	Q01955	p.Gly1367Arg	rs778634875	missense variant	-	NC_000002.12:g.227304090G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1367Ala	RCV000379461	missense variant	Alport syndrome	NC_000002.12:g.227304091G>C	ClinVar
COL4A3	Q01955	p.Glu1368Ala	rs747992363	missense variant	-	NC_000002.12:g.227304094A>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1370Trp	rs1431769783	missense variant	-	NC_000002.12:g.227304099G>T	gnomAD
COL4A3	Q01955	p.Gly1370Arg	rs1431769783	missense variant	-	NC_000002.12:g.227304099G>A	gnomAD
COL4A3	Q01955	p.Met1371Arg	rs1376744193	missense variant	-	NC_000002.12:g.227304103T>G	gnomAD
COL4A3	Q01955	p.Met1371Leu	rs1280257668	missense variant	-	NC_000002.12:g.227304102A>T	TOPMed
COL4A3	Q01955	p.Gln1372Arg	rs1203857767	missense variant	-	NC_000002.12:g.227304106A>G	TOPMed
COL4A3	Q01955	p.Pro1375Arg	rs932178501	missense variant	-	NC_000002.12:g.227304115C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1376Arg	rs1266557600	missense variant	-	NC_000002.12:g.227304117G>A	TOPMed
COL4A3	Q01955	p.Pro1378Thr	rs1480056281	missense variant	-	NC_000002.12:g.227304123C>A	gnomAD
COL4A3	Q01955	p.Gly1379Arg	rs1328474979	missense variant	-	NC_000002.12:g.227304126G>A	gnomAD
COL4A3	Q01955	p.Asn1383Ser	rs1285748210	missense variant	-	NC_000002.12:g.227304139A>G	gnomAD
COL4A3	Q01955	p.Gly1385Glu	rs752254472	missense variant	-	NC_000002.12:g.227304985G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1386Thr	rs1482987456	missense variant	-	NC_000002.12:g.227304987C>A	gnomAD
COL4A3	Q01955	p.Pro1386Ser	rs1482987456	missense variant	-	NC_000002.12:g.227304987C>T	gnomAD
COL4A3	Q01955	p.Pro1389Thr	rs1281887494	missense variant	-	NC_000002.12:g.227304996C>A	gnomAD
COL4A3	Q01955	p.Gly1391Ala	rs758237901	missense variant	-	NC_000002.12:g.227305003G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1391Ser	COSM3578510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227305002G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1391Asp	COSM4396036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227305003G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro1393Leu	rs370516752	missense variant	-	NC_000002.12:g.227305009C>T	ESP,ExAC,gnomAD
COL4A3	Q01955	p.Lys1395Glu	rs751535104	missense variant	-	NC_000002.12:g.227305014A>G	ExAC,gnomAD
COL4A3	Q01955	p.Gly1397Glu	rs780162952	missense variant	-	NC_000002.12:g.227305021G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1399Ser	rs768549375	missense variant	-	NC_000002.12:g.227305026C>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly1400Glu	rs1369737800	missense variant	-	NC_000002.12:g.227305030G>A	gnomAD
COL4A3	Q01955	p.Thr1401Pro	rs1233988362	missense variant	-	NC_000002.12:g.227305032A>C	TOPMed,gnomAD
COL4A3	Q01955	p.Pro1402Ser	rs199548916	missense variant	-	NC_000002.12:g.227305035C>T	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Pro1402Thr	rs199548916	missense variant	-	NC_000002.12:g.227305035C>A	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Gly1403Ala	rs773708527	missense variant	-	NC_000002.12:g.227305039G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1403Glu	rs773708527	missense variant	-	NC_000002.12:g.227305039G>A	ExAC,gnomAD
COL4A3	Q01955	p.Gly1403Ter	rs772528863	stop gained	-	NC_000002.12:g.227305038G>T	ExAC,gnomAD
COL4A3	Q01955	p.Gly1403Arg	rs772528863	missense variant	-	NC_000002.12:g.227305038G>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1404Leu	rs1435107745	missense variant	-	NC_000002.12:g.227305042C>T	gnomAD
COL4A3	Q01955	p.Glu1407Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227305051A>G	NCI-TCGA
COL4A3	Q01955	p.Glu1407Asp	rs771581605	missense variant	-	NC_000002.12:g.227305052A>T	ExAC,gnomAD
COL4A3	Q01955	p.Glu1407Asp	rs771581605	missense variant	-	NC_000002.12:g.227305052A>C	ExAC,gnomAD
COL4A3	Q01955	p.Glu1407Ter	COSM1405969	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227305050G>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1409AlaPheSerTerUnkUnk	COSM1614470	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227305051A>-	NCI-TCGA Cosmic
COL4A3	Q01955	p.Gly1412Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227305066G>A	NCI-TCGA
COL4A3	Q01955	p.Ser1413Phe	rs373382431	missense variant	-	NC_000002.12:g.227305069C>T	ESP
COL4A3	Q01955	p.Gly1415Glu	COSM3578512	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227305075G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Glu1416Gln	rs777216105	missense variant	-	NC_000002.12:g.227305077G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1417Ser	rs1369973412	missense variant	-	NC_000002.12:g.227305080C>T	TOPMed
COL4A3	Q01955	p.Pro1419Leu	rs1453558790	missense variant	-	NC_000002.12:g.227307713C>T	TOPMed
COL4A3	Q01955	p.Pro1426Gln	rs375858137	missense variant	-	NC_000002.12:g.227307734C>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1430Ala	rs774856700	missense variant	-	NC_000002.12:g.227307746G>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1430Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227307745G>A	NCI-TCGA
COL4A3	Q01955	p.Arg1432Cys	rs762720289	missense variant	-	NC_000002.12:g.227307751C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1432His	RCV000764365	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227307752G>A	ClinVar
COL4A3	Q01955	p.Arg1432His	RCV000597767	missense variant	-	NC_000002.12:g.227307752G>A	ClinVar
COL4A3	Q01955	p.Arg1432His	rs200509072	missense variant	-	NC_000002.12:g.227307752G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1432Ser	rs762720289	missense variant	-	NC_000002.12:g.227307751C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1436Val	rs1213637962	missense variant	-	NC_000002.12:g.227307764G>T	gnomAD
COL4A3	Q01955	p.Ser1437Pro	rs1271304293	missense variant	-	NC_000002.12:g.227307766T>C	gnomAD
COL4A3	Q01955	p.Ser1437Ter	rs773926698	stop gained	-	NC_000002.12:g.227307767C>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1438Thr	rs767249276	missense variant	-	NC_000002.12:g.227307769C>A	ExAC,gnomAD
COL4A3	Q01955	p.Pro1438His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227307770C>A	NCI-TCGA
COL4A3	Q01955	p.Pro1438Leu	rs930028848	missense variant	-	NC_000002.12:g.227307770C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Ala1439Val	rs756003401	missense variant	-	NC_000002.12:g.227307773C>T	ExAC,gnomAD
COL4A3	Q01955	p.Thr1440Ile	rs752734671	missense variant	-	NC_000002.12:g.227307776C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr1440Ala	rs765416165	missense variant	-	NC_000002.12:g.227307775A>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr1440Pro	rs765416165	missense variant	-	NC_000002.12:g.227307775A>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Trp1441Ter	COSM3798700	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.227307780G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Thr1443Met	rs568766226	missense variant	-	NC_000002.12:g.227307785C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val1447Ala	rs747184144	missense variant	-	NC_000002.12:g.227307797T>C	ExAC,gnomAD
COL4A3	Q01955	p.Phe1448Leu	rs757748389	missense variant	-	NC_000002.12:g.227307799T>C	ExAC,gnomAD
COL4A3	Q01955	p.Thr1449Pro	rs781659889	missense variant	-	NC_000002.12:g.227307802A>C	ExAC,gnomAD
COL4A3	Q01955	p.Arg1450Ter	rs1189607438	stop gained	-	NC_000002.12:g.227307805C>T	TOPMed
COL4A3	Q01955	p.Arg1450Gln	rs746450762	missense variant	-	NC_000002.12:g.227307806G>A	ExAC,gnomAD
COL4A3	Q01955	p.Arg1450Ter	RCV000665013	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227307804_227307810del	ClinVar
COL4A3	Q01955	p.His1451Asp	RCV000727884	missense variant	-	NC_000002.12:g.227307808C>G	ClinVar
COL4A3	Q01955	p.His1451Asp	rs1291948462	missense variant	-	NC_000002.12:g.227307808C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Thr1454Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227307817A>C	NCI-TCGA
COL4A3	Q01955	p.Thr1455Lys	rs776005423	missense variant	-	NC_000002.12:g.227307821C>A	ExAC,gnomAD
COL4A3	Q01955	p.Ala1456Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227307823G>T	NCI-TCGA
COL4A3	Q01955	p.Ala1456Glu	rs768112443	missense variant	-	NC_000002.12:g.227307824C>A	ExAC,gnomAD
COL4A3	Q01955	p.Ala1456Pro	rs1457115624	missense variant	-	NC_000002.12:g.227307823G>C	TOPMed
COL4A3	Q01955	p.Ala1456Thr	COSM1017365	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227307823G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Ile1457Thr	rs1207151551	missense variant	-	NC_000002.12:g.227307827T>C	gnomAD
COL4A3	Q01955	p.Pro1458Ser	rs1003342095	missense variant	-	NC_000002.12:g.227307829C>T	TOPMed
COL4A3	Q01955	p.Pro1461Leu	rs760462252	missense variant	-	NC_000002.12:g.227307839C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1461Ser	rs767367726	missense variant	-	NC_000002.12:g.227307838C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro1461Leu	RCV000416721	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227307839C>T	ClinVar
COL4A3	Q01955	p.Pro1461Thr	rs767367726	missense variant	-	NC_000002.12:g.227307838C>A	ExAC,gnomAD
COL4A3	Q01955	p.Glu1462Gly	rs1299981128	missense variant	-	NC_000002.12:g.227307842A>G	TOPMed
COL4A3	Q01955	p.Gly1463Arg	COSM3578514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227307844G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Val1465Ala	rs753771653	missense variant	-	NC_000002.12:g.227307851T>C	ExAC,gnomAD
COL4A3	Q01955	p.Leu1467His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227307857T>A	NCI-TCGA
COL4A3	Q01955	p.Leu1467Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227307856C>A	NCI-TCGA
COL4A3	Q01955	p.Phe1471Ser	rs757545559	missense variant	-	NC_000002.12:g.227307869T>C	ExAC,gnomAD
COL4A3	Q01955	p.Phe1471Leu	rs1401112697	missense variant	-	NC_000002.12:g.227307870T>G	gnomAD
COL4A3	Q01955	p.Ser1472Phe	rs781726141	missense variant	-	NC_000002.12:g.227307872C>T	ExAC,gnomAD
COL4A3	Q01955	p.Leu1474Pro	RCV000778597	missense variant	COL4A3-Related Disorders	NC_000002.12:g.227307878T>C	ClinVar
COL4A3	Q01955	p.Leu1474Phe	rs750764641	missense variant	-	NC_000002.12:g.227307877C>T	ExAC
COL4A3	Q01955	p.Leu1474Pro	rs200302125	missense variant	-	NC_000002.12:g.227307878T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu1474Val	COSM4836146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227307877C>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Phe1475Ser	rs780455423	missense variant	-	NC_000002.12:g.227307881T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln1477Arg	rs1466592212	missense variant	-	NC_000002.12:g.227307887A>G	TOPMed
COL4A3	Q01955	p.Arg1481Ter	RCV000019036	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227307898C>T	ClinVar
COL4A3	Q01955	p.Arg1481Ter	RCV000760446	nonsense	-	NC_000002.12:g.227307898C>T	ClinVar
COL4A3	Q01955	p.Arg1481Ter	RCV000763473	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227307898C>T	ClinVar
COL4A3	Q01955	p.Arg1481Ter	rs121912824	stop gained	-	NC_000002.12:g.227307898C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1481Gln	rs768203978	missense variant	-	NC_000002.12:g.227307899G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1482Val	rs199755408	missense variant	-	NC_000002.12:g.227307902C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1482Gly	rs199755408	missense variant	-	NC_000002.12:g.227307902C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1482Val	RCV000825738	missense variant	-	NC_000002.12:g.227307902C>T	ClinVar
COL4A3	Q01955	p.Gly1484Arg	rs976882559	missense variant	-	NC_000002.12:g.227307907G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Leu1487Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227307916C>A	NCI-TCGA
COL4A3	Q01955	p.Gly1488Ala	rs1307804666	missense variant	-	NC_000002.12:g.227308899G>C	gnomAD
COL4A3	Q01955	p.Thr1489Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227308902C>A	NCI-TCGA
COL4A3	Q01955	p.Thr1489Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227308901A>T	NCI-TCGA
COL4A3	Q01955	p.Thr1489Ile	rs200818438	missense variant	-	NC_000002.12:g.227308902C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1491AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227308907G>-	NCI-TCGA
COL4A3	Q01955	p.Gly1491Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227308907G>C	NCI-TCGA
COL4A3	Q01955	p.Gly1491Asp	rs374353882	missense variant	-	NC_000002.12:g.227308908G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser1492Cys	rs1057519377	missense variant	-	NC_000002.12:g.227308910A>T	-
COL4A3	Q01955	p.Ser1492Cys	RCV000416827	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227308910A>T	ClinVar
COL4A3	Q01955	p.Gln1495Arg	rs77964815	missense variant	-	NC_000002.12:g.227308920A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gln1495Arg	RCV000253369	missense variant	-	NC_000002.12:g.227308920A>G	ClinVar
COL4A3	Q01955	p.Arg1496Gln	rs776086781	missense variant	-	NC_000002.12:g.227308923G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1496Ter	rs769863513	stop gained	-	NC_000002.12:g.227308922C>T	ExAC,gnomAD
COL4A3	Q01955	p.Arg1496Ter	RCV000670558	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308922C>T	ClinVar
COL4A3	Q01955	p.Met1500Ile	COSM477010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227308936G>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.Met1500Val	rs1452130451	missense variant	-	NC_000002.12:g.227308934A>G	gnomAD
COL4A3	Q01955	p.Pro1501Gln	RCV000666813	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308938C>A	ClinVar
COL4A3	Q01955	p.Pro1501Gln	rs1553766363	missense variant	-	NC_000002.12:g.227308938C>A	-
COL4A3	Q01955	p.Pro1501Thr	rs1195144676	missense variant	-	NC_000002.12:g.227308937C>A	gnomAD
COL4A3	Q01955	p.Pro1501Ser	RCV000723192	missense variant	-	NC_000002.12:g.227308937C>T	ClinVar
COL4A3	Q01955	p.Phe1502Leu	RCV000667153	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308940T>C	ClinVar
COL4A3	Q01955	p.Phe1502Leu	rs1553766367	missense variant	-	NC_000002.12:g.227308940T>C	-
COL4A3	Q01955	p.Phe1504Leu	rs201671013	missense variant	-	NC_000002.12:g.227308946T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Phe1504Leu	RCV000597276	missense variant	-	NC_000002.12:g.227308946T>C	ClinVar
COL4A3	Q01955	p.Phe1504Leu	RCV000825318	missense variant	-	NC_000002.12:g.227308946T>C	ClinVar
COL4A3	Q01955	p.Phe1504Leu	RCV000764366	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227308946T>C	ClinVar
COL4A3	Q01955	p.Cys1505Ser	rs74333012	missense variant	-	NC_000002.12:g.227308950G>C	gnomAD
COL4A3	Q01955	p.Cys1505Phe	rs74333012	missense variant	-	NC_000002.12:g.227308950G>T	gnomAD
COL4A3	Q01955	p.Asn1506Asp	rs766712248	missense variant	-	NC_000002.12:g.227308952A>G	ExAC,gnomAD
COL4A3	Q01955	p.Asn1506Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227308953A>G	NCI-TCGA
COL4A3	Q01955	p.Asn1506Lys	rs754214748	missense variant	-	NC_000002.12:g.227308954T>A	ExAC,gnomAD
COL4A3	Q01955	p.Asn1508Thr	rs200512461	missense variant	-	NC_000002.12:g.227308959A>C	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asn1508Ser	rs200512461	missense variant	-	NC_000002.12:g.227308959A>G	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Asn1508Ser	RCV000825316	missense variant	-	NC_000002.12:g.227308959A>G	ClinVar
COL4A3	Q01955	p.Asn1508Ser	RCV000337893	missense variant	Alport syndrome	NC_000002.12:g.227308959A>G	ClinVar
COL4A3	Q01955	p.Asn1508Ser	RCV000673190	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308959A>G	ClinVar
COL4A3	Q01955	p.Val1510Leu	rs1322053797	missense variant	-	NC_000002.12:g.227308964G>T	gnomAD
COL4A3	Q01955	p.Cys1511Arg	rs1298774711	missense variant	-	NC_000002.12:g.227308967T>C	gnomAD
COL4A3	Q01955	p.Phe1513Ser	rs765765769	missense variant	-	NC_000002.12:g.227308974T>C	ExAC,gnomAD
COL4A3	Q01955	p.Arg1516Gln	rs368726092	missense variant	-	NC_000002.12:g.227308983G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1516Ter	rs759873621	stop gained	-	NC_000002.12:g.227308982C>T	gnomAD
COL4A3	Q01955	p.Arg1516Ter	RCV000667489	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227308982C>T	ClinVar
COL4A3	Q01955	p.Asn1517Lys	COSM1017367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227308987T>G	NCI-TCGA Cosmic
COL4A3	Q01955	p.Asp1518His	RCV000722405	missense variant	-	NC_000002.12:g.227308988G>C	ClinVar
COL4A3	Q01955	p.Tyr1519Cys	rs1273836306	missense variant	-	NC_000002.12:g.227308992A>G	TOPMed
COL4A3	Q01955	p.Trp1522Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227309002G>A	NCI-TCGA
COL4A3	Q01955	p.Ser1524Ter	rs121912825	stop gained	-	NC_000002.12:g.227309007C>G	gnomAD
COL4A3	Q01955	p.Ser1524Leu	rs121912825	missense variant	-	NC_000002.12:g.227309007C>T	gnomAD
COL4A3	Q01955	p.Ser1524Ter	RCV000019037	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227309007C>G	ClinVar
COL4A3	Q01955	p.Pro1526Ala	rs1433853870	missense variant	-	NC_000002.12:g.227309012C>G	TOPMed
COL4A3	Q01955	p.Ala1527Pro	rs1205164666	missense variant	-	NC_000002.12:g.227309015G>C	gnomAD
COL4A3	Q01955	p.Met1529Thr	rs777310696	missense variant	-	NC_000002.12:g.227309022T>C	ExAC,gnomAD
COL4A3	Q01955	p.Pro1530Thr	rs746709648	missense variant	-	NC_000002.12:g.227309024C>A	ExAC,gnomAD
COL4A3	Q01955	p.Met1531Val	rs1327058426	missense variant	-	NC_000002.12:g.227309027A>G	TOPMed
COL4A3	Q01955	p.Met1533Thr	rs756916479	missense variant	-	NC_000002.12:g.227309034T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1535Arg	rs1253233469	missense variant	-	NC_000002.12:g.227309040C>G	gnomAD
COL4A3	Q01955	p.Ile1536Thr	rs780647456	missense variant	-	NC_000002.12:g.227309043T>C	ExAC,gnomAD
COL4A3	Q01955	p.Ile1536Val	rs1474879040	missense variant	-	NC_000002.12:g.227309042A>G	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1538Ser	rs1417837330	missense variant	-	NC_000002.12:g.227309048G>A	gnomAD
COL4A3	Q01955	p.Ala1540Val	rs745660430	missense variant	-	NC_000002.12:g.227309055C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1540Gly	rs745660430	missense variant	-	NC_000002.12:g.227309055C>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1543Leu	rs1331156059	missense variant	-	NC_000002.12:g.227309064C>T	gnomAD
COL4A3	Q01955	p.Ser1546Cys	rs1459932746	missense variant	-	NC_000002.12:g.227309072A>T	gnomAD
COL4A3	Q01955	p.Cys1548Tyr	rs745466617	missense variant	-	NC_000002.12:g.227309206G>A	ExAC,gnomAD
COL4A3	Q01955	p.Cys1548Gly	rs781021007	missense variant	-	NC_000002.12:g.227309205T>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val1550Ala	rs200655479	missense variant	-	NC_000002.12:g.227309212T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val1550Gly	rs200655479	missense variant	-	NC_000002.12:g.227309212T>G	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val1550Ile	rs756020666	missense variant	-	NC_000002.12:g.227309211G>A	ExAC,gnomAD
COL4A3	Q01955	p.Cys1551Arg	rs768624338	missense variant	-	NC_000002.12:g.227309214T>C	ExAC,gnomAD
COL4A3	Q01955	p.Gly1553Asp	rs1436811964	missense variant	-	NC_000002.12:g.227309221G>A	TOPMed
COL4A3	Q01955	p.Pro1554Arg	rs1221621618	missense variant	-	NC_000002.12:g.227309224C>G	gnomAD
COL4A3	Q01955	p.Pro1554Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227309223C>T	NCI-TCGA
COL4A3	Q01955	p.Ala1555Val	rs369575989	missense variant	-	NC_000002.12:g.227309227C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1555Glu	rs369575989	missense variant	-	NC_000002.12:g.227309227C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1555Thr	rs774089446	missense variant	-	NC_000002.12:g.227309226G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1557Asp	rs555790926	missense variant	-	NC_000002.12:g.227309233C>A	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Ala1557Thr	rs775823265	missense variant	-	NC_000002.12:g.227309232G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ala1557Pro	rs775823265	missense variant	-	NC_000002.12:g.227309232G>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Val1560Ile	rs574102153	missense variant	-	NC_000002.12:g.227309241G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.His1561Tyr	rs1175623035	missense variant	-	NC_000002.12:g.227309244C>T	gnomAD
COL4A3	Q01955	p.Thr1564Ile	rs886055743	missense variant	-	NC_000002.12:g.227309254C>T	-
COL4A3	Q01955	p.Thr1564Ile	RCV000406972	missense variant	Alport syndrome	NC_000002.12:g.227309254C>T	ClinVar
COL4A3	Q01955	p.Thr1565Ala	rs1486435471	missense variant	-	NC_000002.12:g.227309256A>G	TOPMed
COL4A3	Q01955	p.Ile1567Thr	rs371452712	missense variant	-	NC_000002.12:g.227309263T>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile1567Ser	rs371452712	missense variant	-	NC_000002.12:g.227309263T>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Pro1568Leu	rs267599234	missense variant	-	NC_000002.12:g.227309266C>T	TOPMed
COL4A3	Q01955	p.Pro1568His	COSM1017375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227309266C>A	NCI-TCGA Cosmic
COL4A3	Q01955	p.His1572Tyr	rs1224815411	missense variant	-	NC_000002.12:g.227309277C>T	TOPMed
COL4A3	Q01955	p.Gly1573Ser	rs761262391	missense variant	-	NC_000002.12:g.227309280G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ile1575Val	rs1334712897	missense variant	-	NC_000002.12:g.227309286A>G	gnomAD
COL4A3	Q01955	p.Ile1575Thr	rs754689850	missense variant	-	NC_000002.12:g.227309287T>C	ExAC,gnomAD
COL4A3	Q01955	p.Ser1576Cys	rs1439393606	missense variant	-	NC_000002.12:g.227309290C>G	gnomAD
COL4A3	Q01955	p.Lys1579Glu	rs778933603	missense variant	-	NC_000002.12:g.227309298A>G	ExAC,gnomAD
COL4A3	Q01955	p.Met1585Val	rs541108316	missense variant	-	NC_000002.12:g.227309316A>G	TOPMed,gnomAD
COL4A3	Q01955	p.Met1585Leu	rs541108316	missense variant	-	NC_000002.12:g.227309316A>C	TOPMed,gnomAD
COL4A3	Q01955	p.Met1585Ile	rs748015560	missense variant	-	NC_000002.12:g.227309318G>A	ExAC,gnomAD
COL4A3	Q01955	p.Ser1588Thr	rs1396148189	missense variant	-	NC_000002.12:g.227310783G>C	gnomAD
COL4A3	Q01955	p.Gly1590Asp	rs749447224	missense variant	-	NC_000002.12:g.227310789G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Ser1591Phe	rs558813497	missense variant	-	NC_000002.12:g.227310792C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Glu1592Asp	rs370000381	missense variant	-	NC_000002.12:g.227310796G>C	ESP,ExAC,gnomAD
COL4A3	Q01955	p.Glu1592Lys	rs774573040	missense variant	-	NC_000002.12:g.227310794G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1593Val	rs373407763	missense variant	-	NC_000002.12:g.227310798G>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr1594Ser	rs760284809	missense variant	-	NC_000002.12:g.227310801C>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Thr1594Ile	rs760284809	missense variant	-	NC_000002.12:g.227310801C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1595Arg	RCV000761225	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310803G>A	ClinVar
COL4A3	Q01955	p.Gly1595Trp	rs766208466	missense variant	-	NC_000002.12:g.227310803G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Gly1595Arg	rs766208466	missense variant	-	NC_000002.12:g.227310803G>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu1598Arg	rs752452590	missense variant	-	NC_000002.12:g.227310813T>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Leu1598Arg	RCV000665574	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310813T>G	ClinVar
COL4A3	Q01955	p.Ser1600Phe	rs897404585	missense variant	-	NC_000002.12:g.227310819C>T	TOPMed,gnomAD
COL4A3	Q01955	p.Pro1601Ter	RCV000674928	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310822del	ClinVar
COL4A3	Q01955	p.Gly1602Ala	rs1034231913	missense variant	-	NC_000002.12:g.227310825G>C	TOPMed
COL4A3	Q01955	p.Cys1604Trp	rs1064796314	missense variant	-	NC_000002.12:g.227310832C>G	TOPMed,gnomAD
COL4A3	Q01955	p.Cys1604Trp	RCV000480481	missense variant	-	NC_000002.12:g.227310832C>G	ClinVar
COL4A3	Q01955	p.Glu1607Ter	rs764046610	stop gained	-	NC_000002.12:g.227310839G>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Glu1607Ter	RCV000517806	nonsense	-	NC_000002.12:g.227310839G>T	ClinVar
COL4A3	Q01955	p.Phe1608Leu	rs751446794	missense variant	-	NC_000002.12:g.227310844C>A	ExAC,gnomAD
COL4A3	Q01955	p.Arg1609Ter	rs756231749	stop gained	-	NC_000002.12:g.227310845C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1609Gln	rs1380878336	missense variant	-	NC_000002.12:g.227310846G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Arg1609Ter	RCV000668781	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310845C>T	ClinVar
COL4A3	Q01955	p.Ala1610Asp	rs749589880	missense variant	-	NC_000002.12:g.227310849C>A	ExAC,gnomAD
COL4A3	Q01955	p.Leu1614Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227310860C>G	NCI-TCGA
COL4A3	Q01955	p.Cys1616Tyr	rs1202018331	missense variant	-	NC_000002.12:g.227310867G>A	TOPMed
COL4A3	Q01955	p.His1617Gln	rs74379096	missense variant	-	NC_000002.12:g.227310871T>G	TOPMed,gnomAD
COL4A3	Q01955	p.His1617Asn	rs779137269	missense variant	-	NC_000002.12:g.227310869C>A	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1619Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227310876G>T	NCI-TCGA
COL4A3	Q01955	p.Thr1621Met	rs748527311	missense variant	-	NC_000002.12:g.227310882C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Tyr1624Ter	RCV000671855	nonsense	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227310892C>G	ClinVar
COL4A3	Q01955	p.Tyr1624Ter	rs1351781261	stop gained	-	NC_000002.12:g.227310892C>G	TOPMed
COL4A3	Q01955	p.Tyr1625Cys	rs1288500420	missense variant	-	NC_000002.12:g.227310894A>G	TOPMed
COL4A3	Q01955	p.Ser1626Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.227310897C>G	NCI-TCGA
COL4A3	Q01955	p.Ser1628Ala	rs773905198	missense variant	-	NC_000002.12:g.227310902T>G	ExAC,gnomAD
COL4A3	Q01955	p.Ser1628Thr	rs773905198	missense variant	-	NC_000002.12:g.227310902T>A	ExAC,gnomAD
COL4A3	Q01955	p.Ser1628Ala	RCV000449509	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227310902T>G	ClinVar
COL4A3	Q01955	p.TyrSer1629Ter	rs1260353732	stop gained	-	NC_000002.12:g.227310907_227310908del	gnomAD
COL4A3	Q01955	p.Ser1630Asn	rs1348892751	missense variant	-	NC_000002.12:g.227310909G>A	gnomAD
COL4A3	Q01955	p.Leu1633Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227310917C>A	NCI-TCGA
COL4A3	Q01955	p.Leu1636Ser	rs1485280121	missense variant	-	NC_000002.12:g.227310927T>C	gnomAD
COL4A3	Q01955	p.Pro1638Ser	rs759033068	missense variant	-	NC_000002.12:g.227310932C>T	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Phe1642Leu	COSM1017377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227310944T>C	NCI-TCGA Cosmic
COL4A3	Q01955	p.Pro1645His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227311791C>A	NCI-TCGA
COL4A3	Q01955	p.Pro1645Leu	rs775168660	missense variant	-	NC_000002.12:g.227311791C>T	ExAC,gnomAD
COL4A3	Q01955	p.Pro1645Ser	COSM477012	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.227311790C>T	NCI-TCGA Cosmic
COL4A3	Q01955	p.Thr1649Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227311803C>T	NCI-TCGA
COL4A3	Q01955	p.Gly1653Ala	rs1361338552	missense variant	-	NC_000002.12:g.227311815G>C	TOPMed,gnomAD
COL4A3	Q01955	p.Gly1653Glu	rs1361338552	missense variant	-	NC_000002.12:g.227311815G>A	TOPMed,gnomAD
COL4A3	Q01955	p.Glu1654Gly	rs1467017246	missense variant	-	NC_000002.12:g.227311818A>G	gnomAD
COL4A3	Q01955	p.Glu1654AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.227311814G>-	NCI-TCGA
COL4A3	Q01955	p.Glu1656Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227311823G>A	NCI-TCGA
COL4A3	Q01955	p.Glu1656Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227311823G>C	NCI-TCGA
COL4A3	Q01955	p.Ile1659Val	rs193076251	missense variant	-	NC_000002.12:g.227311832A>G	1000Genomes,ExAC,gnomAD
COL4A3	Q01955	p.Ile1659Thr	rs75042602	missense variant	-	NC_000002.12:g.227311833T>C	1000Genomes
COL4A3	Q01955	p.Ser1660Ter	RCV000670405	frameshift	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227311833dup	ClinVar
COL4A3	Q01955	p.Ser1660Arg	RCV000671333	insertion	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227311834_227311836dup	ClinVar
COL4A3	Q01955	p.Ser1660Arg	rs768504613	missense variant	-	NC_000002.12:g.227311835A>C	ExAC,gnomAD
COL4A3	Q01955	p.Ser1660Arg	rs1310243946	missense variant	-	NC_000002.12:g.227311837T>A	gnomAD
COL4A3	Q01955	p.Arg1661Cys	RCV000677316	missense variant	Alport syndrome 3, autosomal dominant (ATS3)	NC_000002.12:g.227311838C>T	ClinVar
COL4A3	Q01955	p.Arg1661Cys	rs201697532	missense variant	-	NC_000002.12:g.227311838C>T	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Arg1661Cys	rs201697532	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227311838C>T	UniProt,dbSNP
COL4A3	Q01955	p.Arg1661Cys	VAR_011219	missense variant	Alport syndrome 2, autosomal recessive (ATS2)	NC_000002.12:g.227311838C>T	UniProt
COL4A3	Q01955	p.Arg1661His	rs374158562	missense variant	-	NC_000002.12:g.227311839G>A	ESP,ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Cys1662Tyr	RCV000722347	missense variant	-	NC_000002.12:g.227311842G>A	ClinVar
COL4A3	Q01955	p.Cys1662Tyr	rs1339780318	missense variant	-	NC_000002.12:g.227311842G>A	TOPMed
COL4A3	Q01955	p.Gln1663Glu	rs1303148556	missense variant	-	NC_000002.12:g.227311844C>G	gnomAD
COL4A3	Q01955	p.Val1664Leu	rs767360877	missense variant	-	NC_000002.12:g.227311847G>T	ExAC,gnomAD
COL4A3	Q01955	p.Val1664Met	rs767360877	missense variant	-	NC_000002.12:g.227311847G>A	ExAC,gnomAD
COL4A3	Q01955	p.Cys1665Tyr	RCV000673499	missense variant	Alport syndrome, autosomal recessive (ATS2)	NC_000002.12:g.227311851G>A	ClinVar
COL4A3	Q01955	p.Cys1665Tyr	rs376550779	missense variant	-	NC_000002.12:g.227311851G>A	ESP,ExAC,gnomAD
COL4A3	Q01955	p.Met1666Lys	rs910068114	missense variant	-	NC_000002.12:g.227311854T>A	TOPMed
COL4A3	Q01955	p.Met1666Val	rs759583948	missense variant	-	NC_000002.12:g.227311853A>G	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met1666Leu	rs759583948	missense variant	-	NC_000002.12:g.227311853A>C	ExAC,TOPMed,gnomAD
COL4A3	Q01955	p.Met1666Arg	rs910068114	missense variant	-	NC_000002.12:g.227311854T>G	TOPMed
COL4A3	Q01955	p.Lys1668Thr	rs1251988107	missense variant	-	NC_000002.12:g.227311860A>C	gnomAD
COL4A3	Q01955	p.Arg1669Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.227311863G>C	NCI-TCGA
COL4A3	Q01955	p.His1670Gln	rs753032877	missense variant	-	NC_000002.12:g.227311867C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.His2Tyr	rs781021505	missense variant	-	NC_000015.10:g.28081871G>A	ExAC,gnomAD
OCA2	Q04671	p.His2Asn	rs781021505	missense variant	-	NC_000015.10:g.28081871G>T	ExAC,gnomAD
OCA2	Q04671	p.Gly5Cys	rs1429007465	missense variant	-	NC_000015.10:g.28081862C>A	gnomAD
OCA2	Q04671	p.Arg6Thr	rs757294992	missense variant	-	NC_000015.10:g.28081858C>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly8Ser	rs574772268	missense variant	-	NC_000015.10:g.28081853C>T	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Arg10Trp	rs554862186	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28081847G>A	UniProt,dbSNP
OCA2	Q04671	p.Arg10Trp	VAR_020622	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28081847G>A	UniProt
OCA2	Q04671	p.Arg10Trp	rs554862186	missense variant	-	NC_000015.10:g.28081847G>A	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Arg10Gln	rs199752361	missense variant	-	NC_000015.10:g.28081846C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg10Gln	rs199752361	missense variant	-	NC_000015.10:g.28081846C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Pro12Ala	rs759852184	missense variant	-	NC_000015.10:g.28081841G>C	ExAC,gnomAD
OCA2	Q04671	p.Pro12Thr	rs759852184	missense variant	-	NC_000015.10:g.28081841G>T	ExAC,gnomAD
OCA2	Q04671	p.Pro12Leu	rs1029264707	missense variant	-	NC_000015.10:g.28081840G>A	TOPMed
OCA2	Q04671	p.Gly13Arg	rs201554429	missense variant	-	NC_000015.10:g.28081838C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly13Ser	RCV000302507	missense variant	-	NC_000015.10:g.28081838C>T	ClinVar
OCA2	Q04671	p.Gly13Ser	rs201554429	missense variant	-	NC_000015.10:g.28081838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala14Thr	rs368928996	missense variant	-	NC_000015.10:g.28081835C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Ala14Val	rs763734477	missense variant	-	NC_000015.10:g.28081834G>A	NCI-TCGA
OCA2	Q04671	p.Ala14Val	rs763734477	missense variant	-	NC_000015.10:g.28081834G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala14Thr	rs368928996	missense variant	-	NC_000015.10:g.28081835C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro15Leu	rs201291702	missense variant	-	NC_000015.10:g.28081831G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro15Ser	rs775303364	missense variant	-	NC_000015.10:g.28081832G>A	ExAC,gnomAD
OCA2	Q04671	p.Pro15Leu	rs201291702	missense variant	-	NC_000015.10:g.28081831G>A	NCI-TCGA
OCA2	Q04671	p.Ala16Val	rs776573914	missense variant	-	NC_000015.10:g.28081828G>A	ExAC,gnomAD
OCA2	Q04671	p.Ala16Val	rs776573914	missense variant	-	NC_000015.10:g.28081828G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Val17Glu	rs1237182917	missense variant	-	NC_000015.10:g.28081825A>T	TOPMed
OCA2	Q04671	p.Val17Glu	rs1237182917	missense variant	-	NC_000015.10:g.28081825A>T	NCI-TCGA
OCA2	Q04671	p.Glu18Gly	rs747007633	missense variant	-	NC_000015.10:g.28081822T>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu20Val	rs748332005	missense variant	-	NC_000015.10:g.28081817G>C	ExAC,gnomAD
OCA2	Q04671	p.Leu20Met	rs748332005	missense variant	-	NC_000015.10:g.28081817G>T	ExAC,gnomAD
OCA2	Q04671	p.Gln21His	rs61742223	missense variant	-	NC_000015.10:g.28081812C>A	gnomAD
OCA2	Q04671	p.Gln21His	rs61742223	missense variant	-	NC_000015.10:g.28081812C>G	gnomAD
OCA2	Q04671	p.Thr22Met	rs779114740	missense variant	-	NC_000015.10:g.28081810G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val24Met	rs766829294	missense variant	-	NC_000015.10:g.28081805C>T	ExAC,gnomAD
OCA2	Q04671	p.Pro25Ser	rs1426141034	missense variant	-	NC_000015.10:g.28081802G>A	gnomAD
OCA2	Q04671	p.Pro25Leu	rs756543761	missense variant	-	NC_000015.10:g.28081801G>A	ExAC,gnomAD
OCA2	Q04671	p.Gly27Arg	RCV000727245	missense variant	-	NC_000015.10:g.28081796C>T	ClinVar
OCA2	Q04671	p.Gly27Arg	rs61738394	missense variant	-	NC_000015.10:g.28081796C>T	1000Genomes,ESP,ExAC,TOPMed
OCA2	Q04671	p.Gly27Arg	rs61738394	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28081796C>T	UniProt,dbSNP
OCA2	Q04671	p.Gly27Arg	VAR_006117	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28081796C>T	UniProt
OCA2	Q04671	p.Gly27Arg	rs61738394	missense variant	-	NC_000015.10:g.28081796C>G	1000Genomes,ESP,ExAC,TOPMed
OCA2	Q04671	p.Gly27Glu	rs762581976	missense variant	-	NC_000015.10:g.28081795C>T	ExAC,gnomAD
OCA2	Q04671	p.Ala29Thr	rs759291231	missense variant	-	NC_000015.10:g.28081790C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala29Asp	rs776260039	missense variant	-	NC_000015.10:g.28081789G>T	ExAC,gnomAD
OCA2	Q04671	p.Ala29Thr	RCV000264722	missense variant	Oculocutaneous albinism	NC_000015.10:g.28081790C>T	ClinVar
OCA2	Q04671	p.Ala29Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28081790C>A	NCI-TCGA
OCA2	Q04671	p.Glu30Ala	rs746874901	missense variant	-	NC_000015.10:g.28081786T>G	ExAC,gnomAD
OCA2	Q04671	p.Glu30Lys	rs770810288	missense variant	-	NC_000015.10:g.28081787C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu30Gln	rs770810288	missense variant	-	NC_000015.10:g.28081787C>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu31Phe	rs772076517	missense variant	-	NC_000015.10:g.28081784G>A	ExAC,gnomAD
OCA2	Q04671	p.Leu31Val	rs772076517	missense variant	-	NC_000015.10:g.28081784G>C	ExAC,gnomAD
OCA2	Q04671	p.Leu31Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28081783A>C	NCI-TCGA
OCA2	Q04671	p.Val32Leu	rs1321894065	missense variant	-	NC_000015.10:g.28081781C>A	TOPMed,gnomAD
OCA2	Q04671	p.Ala33Ser	rs748244078	missense variant	-	NC_000015.10:g.28081778C>A	ExAC,gnomAD
OCA2	Q04671	p.Ala33Val	rs548427771	missense variant	-	NC_000015.10:g.28081777G>A	1000Genomes
OCA2	Q04671	p.Gly34Ser	rs367553582	missense variant	-	NC_000015.10:g.28081775C>T	NCI-TCGA
OCA2	Q04671	p.Gly34Ser	rs367553582	missense variant	-	NC_000015.10:g.28081775C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Lys35Glu	rs749561420	missense variant	-	NC_000015.10:g.28081772T>C	ExAC,gnomAD
OCA2	Q04671	p.Arg36Pro	rs143429491	missense variant	-	NC_000015.10:g.28081768C>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg36Leu	rs143429491	missense variant	-	NC_000015.10:g.28081768C>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg36Cys	rs148066812	missense variant	-	NC_000015.10:g.28081769G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg36His	rs143429491	missense variant	-	NC_000015.10:g.28081768C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg36Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28081769G>T	NCI-TCGA
OCA2	Q04671	p.Arg37Lys	rs1175658810	missense variant	-	NC_000015.10:g.28081765C>T	gnomAD
OCA2	Q04671	p.Arg37Ser	rs41309258	missense variant	-	NC_000015.10:g.28081764C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu38Phe	rs1426918298	missense variant	-	NC_000015.10:g.28081763G>A	TOPMed,gnomAD
OCA2	Q04671	p.Arg40Gln	rs1212574604	missense variant	-	NC_000015.10:g.28081756C>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg40Gln	rs1212574604	missense variant	-	NC_000015.10:g.28081756C>T	TOPMed
OCA2	Q04671	p.Arg40Trp	rs757923752	missense variant	-	NC_000015.10:g.28081757G>A	ExAC,gnomAD
OCA2	Q04671	p.Gly41Ter	RCV000500286	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28081750_28081757del	ClinVar
OCA2	Q04671	p.Gly43Ser	rs545820701	missense variant	-	NC_000015.10:g.28081748C>T	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly44Ter	RCV000622436	frameshift	Inborn genetic diseases	NC_000015.10:g.28081745del	ClinVar
OCA2	Q04671	p.Gly44Val	rs1198832011	missense variant	-	NC_000015.10:g.28081744C>A	TOPMed
OCA2	Q04671	p.Asp46Gly	rs766051204	missense variant	-	NC_000015.10:g.28081738T>C	ExAC,gnomAD
OCA2	Q04671	p.Asp46Glu	rs1459745609	missense variant	-	NC_000015.10:g.28081737G>T	gnomAD
OCA2	Q04671	p.Asp46Val	rs766051204	missense variant	-	NC_000015.10:g.28081738T>A	ExAC,gnomAD
OCA2	Q04671	p.Pro47Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28081735G>A	NCI-TCGA
OCA2	Q04671	p.Ser48Leu	rs576846193	missense variant	-	NC_000015.10:g.28081732G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ser50Phe	rs549983090	missense variant	-	NC_000015.10:g.28081726G>A	gnomAD
OCA2	Q04671	p.Ser50Cys	rs549983090	missense variant	-	NC_000015.10:g.28081726G>C	gnomAD
OCA2	Q04671	p.Cys51Gly	rs1423303674	missense variant	-	NC_000015.10:g.28081724A>C	TOPMed
OCA2	Q04671	p.Pro52Arg	rs200885801	missense variant	-	NC_000015.10:g.28081720G>C	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro52Leu	rs200885801	missense variant	-	NC_000015.10:g.28081720G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg53Lys	rs1034863880	missense variant	-	NC_000015.10:g.28081717C>T	TOPMed
OCA2	Q04671	p.Arg53Ser	rs1379944735	missense variant	-	NC_000015.10:g.28081716C>A	gnomAD
OCA2	Q04671	p.Arg53Gly	rs761810483	missense variant	-	NC_000015.10:g.28081718T>C	ExAC,gnomAD
OCA2	Q04671	p.Arg53Trp	rs761810483	missense variant	-	NC_000015.10:g.28081718T>A	ExAC,gnomAD
OCA2	Q04671	p.Gly54Arg	rs774380004	missense variant	-	NC_000015.10:g.28081715C>T	ExAC,gnomAD
OCA2	Q04671	p.Gly54Glu	rs965907142	missense variant	-	NC_000015.10:g.28081714C>T	gnomAD
OCA2	Q04671	p.Ala55Thr	rs749418896	missense variant	-	NC_000015.10:g.28081712C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala55Ser	rs749418896	missense variant	-	NC_000015.10:g.28081712C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala56Gly	rs867941204	missense variant	-	NC_000015.10:g.28081708G>C	TOPMed
OCA2	Q04671	p.Ala56Val	rs867941204	missense variant	-	NC_000015.10:g.28081708G>A	TOPMed
OCA2	Q04671	p.Ala56Ser	rs1457587922	missense variant	-	NC_000015.10:g.28081709C>A	gnomAD
OCA2	Q04671	p.Gly57Ala	rs746247850	missense variant	-	NC_000015.10:g.28081705C>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly57Arg	rs372901106	missense variant	-	NC_000015.10:g.28081706C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly57Glu	rs746247850	missense variant	-	NC_000015.10:g.28081705C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly57Arg	rs372901106	missense variant	-	NC_000015.10:g.28081706C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Gln58His	COSM6076975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28081701C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Gln58Arg	rs1182516404	missense variant	-	NC_000015.10:g.28081702T>C	gnomAD
OCA2	Q04671	p.Gln58Ter	rs781727577	stop gained	-	NC_000015.10:g.28081703G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gln58Lys	rs781727577	missense variant	-	NC_000015.10:g.28081703G>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gln58Ter	RCV000500321	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28081706del	ClinVar
OCA2	Q04671	p.Ser60Pro	rs1482513844	missense variant	-	NC_000015.10:g.28081697A>G	gnomAD
OCA2	Q04671	p.Trp61Ter	rs752161782	stop gained	-	NC_000015.10:g.28081693C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Trp61Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28081693C>A	NCI-TCGA
OCA2	Q04671	p.Ala62Val	rs1209695913	missense variant	-	NC_000015.10:g.28081690G>A	gnomAD
OCA2	Q04671	p.Pro63Ala	rs754549783	missense variant	-	NC_000015.10:g.28081688G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro63Ser	rs754549783	missense variant	-	NC_000015.10:g.28081688G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala64Thr	rs753368228	missense variant	-	NC_000015.10:g.28081685C>T	ExAC,gnomAD
OCA2	Q04671	p.Ala64Pro	rs753368228	missense variant	-	NC_000015.10:g.28081685C>G	ExAC,gnomAD
OCA2	Q04671	p.Gln66Arg	rs1322917049	missense variant	-	NC_000015.10:g.28081678T>C	TOPMed,gnomAD
OCA2	Q04671	p.Ala69Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28081670C>A	NCI-TCGA
OCA2	Q04671	p.Arg76Lys	rs1367553457	missense variant	-	NC_000015.10:g.28081648C>T	gnomAD
OCA2	Q04671	p.Arg76Trp	rs147785669	missense variant	-	NC_000015.10:g.28081649T>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg76Thr	rs1367553457	missense variant	-	NC_000015.10:g.28081648C>G	gnomAD
OCA2	Q04671	p.His78Tyr	rs531777637	missense variant	-	NC_000015.10:g.28032159G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ser79Tyr	COSM1301008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28032155G>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Pro82Ala	rs1406242149	missense variant	-	NC_000015.10:g.28032147G>C	TOPMed
OCA2	Q04671	p.Met84Ile	COSM1372226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28032139C>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Ser85Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28032137G>T	NCI-TCGA
OCA2	Q04671	p.Ser86Thr	rs1024467465	missense variant	-	NC_000015.10:g.28032134C>G	gnomAD
OCA2	Q04671	p.Ser86Arg	rs772243109	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28032133G>T	UniProt,dbSNP
OCA2	Q04671	p.Ser86Arg	VAR_006118	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28032133G>T	UniProt
OCA2	Q04671	p.Ser86Arg	rs772243109	missense variant	-	NC_000015.10:g.28032133G>T	-
OCA2	Q04671	p.Arg88Ser	rs1404087528	missense variant	-	NC_000015.10:g.28032127C>G	TOPMed,gnomAD
OCA2	Q04671	p.Lys90Thr	rs1168047336	missense variant	-	NC_000015.10:g.28032122T>G	gnomAD
OCA2	Q04671	p.Asp91Glu	rs755736455	missense variant	-	NC_000015.10:g.28032118A>T	ExAC,gnomAD
OCA2	Q04671	p.Asp91Tyr	rs560935571	missense variant	-	NC_000015.10:g.28032120C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asp91Val	rs542571783	missense variant	-	NC_000015.10:g.28032119T>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Cys93Tyr	rs750120991	missense variant	-	NC_000015.10:g.28032113C>T	ExAC,gnomAD
OCA2	Q04671	p.Cys93Ser	rs750120991	missense variant	-	NC_000015.10:g.28032113C>G	ExAC,gnomAD
OCA2	Q04671	p.Glu96Lys	rs372184971	missense variant	-	NC_000015.10:g.28032105C>T	ESP,TOPMed
OCA2	Q04671	p.Glu96Ala	rs748287294	missense variant	-	NC_000015.10:g.28032104T>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu96Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.28032105C>A	NCI-TCGA
OCA2	Q04671	p.Thr98Ala	rs1183314534	missense variant	-	NC_000015.10:g.28032099T>C	NCI-TCGA
OCA2	Q04671	p.Thr98Ala	rs1183314534	missense variant	-	NC_000015.10:g.28032099T>C	gnomAD
OCA2	Q04671	p.Pro99Ala	rs757072925	missense variant	-	NC_000015.10:g.28032096G>C	ExAC,gnomAD
OCA2	Q04671	p.Pro99Thr	rs757072925	missense variant	-	NC_000015.10:g.28032096G>T	ExAC,gnomAD
OCA2	Q04671	p.Leu101Pro	rs764104457	missense variant	-	NC_000015.10:g.28032089A>G	ExAC,gnomAD
OCA2	Q04671	p.Arg102Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28032085C>A	NCI-TCGA
OCA2	Q04671	p.Ser104Phe	rs1235091618	missense variant	-	NC_000015.10:g.28032080G>A	gnomAD
OCA2	Q04671	p.Gln106Arg	rs1282448249	missense variant	-	NC_000015.10:g.28032074T>C	gnomAD
OCA2	Q04671	p.Glu107Asp	rs1225371196	missense variant	-	NC_000015.10:g.28032070C>A	TOPMed
OCA2	Q04671	p.Lys108Asn	rs1403009794	missense variant	-	NC_000015.10:g.28032067T>G	gnomAD
OCA2	Q04671	p.Gly109Ala	rs1352327430	missense variant	-	NC_000015.10:g.28032065C>G	gnomAD
OCA2	Q04671	p.Gly109Arg	rs904727427	missense variant	-	NC_000015.10:g.28032066C>G	TOPMed
OCA2	Q04671	p.Ser110Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28028057G>A	NCI-TCGA
OCA2	Q04671	p.Arg111Gln	COSM1372224	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28028054C>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg111Trp	rs1280092718	missense variant	-	NC_000015.10:g.28028055G>A	gnomAD
OCA2	Q04671	p.Arg111Trp	rs1280092718	missense variant	-	NC_000015.10:g.28028055G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Cys112Phe	rs562649990	missense variant	-	NC_000015.10:g.28028051C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile113Val	rs529695988	missense variant	-	NC_000015.10:g.28028049T>C	1000Genomes,TOPMed,gnomAD
OCA2	Q04671	p.Ile113Leu	rs529695988	missense variant	-	NC_000015.10:g.28028049T>A	1000Genomes,TOPMed,gnomAD
OCA2	Q04671	p.Pro114Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28028045G>A	NCI-TCGA
OCA2	Q04671	p.Val115Ala	COSM4870992	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28028042A>G	NCI-TCGA Cosmic
OCA2	Q04671	p.Val115Ile	rs1314312278	missense variant	-	NC_000015.10:g.28028043C>T	gnomAD
OCA2	Q04671	p.Thr122Ile	rs34385677	missense variant	-	NC_000015.10:g.28028021G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala123Asp	rs370230176	missense variant	-	NC_000015.10:g.28028018G>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala123Val	rs370230176	missense variant	-	NC_000015.10:g.28028018G>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu124Ala	rs368106059	missense variant	-	NC_000015.10:g.28028015T>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ser126Phe	rs1490438033	missense variant	-	NC_000015.10:g.28028009G>A	TOPMed
OCA2	Q04671	p.Ser131Phe	rs759691635	missense variant	-	NC_000015.10:g.28027994G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ser131Cys	rs759691635	missense variant	-	NC_000015.10:g.28027994G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu135Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28027983C>T	NCI-TCGA
OCA2	Q04671	p.Arg136Gln	rs35764631	missense variant	-	NC_000015.10:g.28027979C>T	NCI-TCGA
OCA2	Q04671	p.Arg136Ter	rs201791790	stop gained	-	NC_000015.10:g.28027980G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg136Gln	rs35764631	missense variant	-	NC_000015.10:g.28027979C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Tyr138His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28027974A>G	NCI-TCGA
OCA2	Q04671	p.Leu140Gln	COSM3969048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28027967A>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Leu140Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28027968G>C	NCI-TCGA
OCA2	Q04671	p.Ser141Asn	rs1284747104	missense variant	-	NC_000015.10:g.28027964C>T	TOPMed,gnomAD
OCA2	Q04671	p.Arg142Ser	rs1348526174	missense variant	-	NC_000015.10:g.28027960C>A	gnomAD
OCA2	Q04671	p.Arg142Trp	rs772367330	missense variant	-	NC_000015.10:g.28027962T>A	ExAC,gnomAD
OCA2	Q04671	p.Glu143Val	rs375241880	missense variant	-	NC_000015.10:g.28027958T>A	ESP,ExAC,gnomAD
OCA2	Q04671	p.Gly146Val	rs1246082851	missense variant	-	NC_000015.10:g.28027949C>A	gnomAD
OCA2	Q04671	p.Ser148Thr	rs1366455690	missense variant	-	NC_000015.10:g.28027944A>T	TOPMed
OCA2	Q04671	p.Ser148Ter	RCV000414559	frameshift	-	NC_000015.10:g.28027946dup	ClinVar
OCA2	Q04671	p.Ser148Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28027943G>C	NCI-TCGA
OCA2	Q04671	p.Ala149Thr	rs1390969502	missense variant	-	NC_000015.10:g.28027941C>T	gnomAD
OCA2	Q04671	p.Ser150Phe	rs1436880387	missense variant	-	NC_000015.10:g.28027937G>A	gnomAD
OCA2	Q04671	p.Ala151Thr	rs745397950	missense variant	-	NC_000015.10:g.28027935C>T	ExAC,gnomAD
OCA2	Q04671	p.Ser152Pro	rs780740527	missense variant	-	NC_000015.10:g.28027932A>G	ExAC,gnomAD
OCA2	Q04671	p.Ser152Phe	rs756930764	missense variant	-	NC_000015.10:g.28027931G>A	ExAC,gnomAD
OCA2	Q04671	p.Ser153Phe	COSM3500266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28027928G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Ser153Thr	rs943845807	missense variant	-	NC_000015.10:g.28027929A>T	TOPMed,gnomAD
OCA2	Q04671	p.Ser153Pro	rs943845807	missense variant	-	NC_000015.10:g.28027929A>G	TOPMed,gnomAD
OCA2	Q04671	p.Glu154Lys	rs746681064	missense variant	-	NC_000015.10:g.28027926C>T	ExAC,gnomAD
OCA2	Q04671	p.Lys155Asn	rs777602121	missense variant	-	NC_000015.10:g.28027921C>A	ExAC,gnomAD
OCA2	Q04671	p.Asp157His	rs1432167731	missense variant	-	NC_000015.10:g.28027917C>G	TOPMed
OCA2	Q04671	p.Asp157Asn	rs1432167731	missense variant	-	NC_000015.10:g.28027917C>T	TOPMed
OCA2	Q04671	p.Leu159Pro	rs1475892910	missense variant	-	NC_000015.10:g.28027910A>G	gnomAD
OCA2	Q04671	p.Leu159Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28027911G>T	NCI-TCGA
OCA2	Q04671	p.Ser161Gly	rs758157709	missense variant	-	NC_000015.10:g.28027905T>C	ExAC,gnomAD
OCA2	Q04671	p.Pro162Leu	rs779005824	missense variant	-	NC_000015.10:g.28027901G>A	ExAC,gnomAD
OCA2	Q04671	p.Pro162Ser	rs139950883	missense variant	-	NC_000015.10:g.28027902G>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.His163Tyr	rs755020630	missense variant	-	NC_000015.10:g.28027899G>A	ExAC,gnomAD
OCA2	Q04671	p.His163Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28027898T>A	NCI-TCGA
OCA2	Q04671	p.Ile164Asn	rs766602770	missense variant	-	NC_000015.10:g.28027895A>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg165Gln	rs371349719	missense variant	-	NC_000015.10:g.28027892C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg165Pro	rs371349719	missense variant	-	NC_000015.10:g.28027892C>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg165Gln	rs371349719	missense variant	-	NC_000015.10:g.28027892C>T	NCI-TCGA
OCA2	Q04671	p.Arg167Cys	rs1429075390	missense variant	-	NC_000015.10:g.28027887G>A	TOPMed,gnomAD
OCA2	Q04671	p.Arg167Cys	rs1429075390	missense variant	-	NC_000015.10:g.28027887G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg167His	rs151118268	missense variant	-	NC_000015.10:g.28027886C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Arg167His	rs151118268	missense variant	-	NC_000015.10:g.28027886C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu168Pro	rs1216461156	missense variant	-	NC_000015.10:g.28027883A>G	TOPMed
OCA2	Q04671	p.Ser169Ala	rs767886586	missense variant	-	NC_000015.10:g.28027881A>C	ExAC,gnomAD
OCA2	Q04671	p.Ser169Phe	rs1188916762	missense variant	-	NC_000015.10:g.28027880G>A	gnomAD
OCA2	Q04671	p.Lys170Asn	rs1404927443	missense variant	-	NC_000015.10:g.28027876C>A	gnomAD
OCA2	Q04671	p.Arg172Thr	rs762091768	missense variant	-	NC_000015.10:g.28027871C>G	ExAC,gnomAD
OCA2	Q04671	p.Arg173His	rs368907318	missense variant	-	NC_000015.10:g.28024900C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Arg173His	rs368907318	missense variant	-	NC_000015.10:g.28024900C>T	ESP,ExAC,gnomAD
OCA2	Q04671	p.Arg173Cys	rs538576672	missense variant	-	NC_000015.10:g.28024901G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Arg173Cys	rs538576672	missense variant	-	NC_000015.10:g.28024901G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Cys174Arg	rs1278188372	missense variant	-	NC_000015.10:g.28024898A>G	TOPMed
OCA2	Q04671	p.Lys179Glu	RCV000503665	missense variant	-	NC_000015.10:g.28024883T>C	ClinVar
OCA2	Q04671	p.Lys179Glu	rs1277911369	missense variant	-	NC_000015.10:g.28024883T>C	gnomAD
OCA2	Q04671	p.Met181Thr	rs375044814	missense variant	-	NC_000015.10:g.28024876A>G	ESP,TOPMed
OCA2	Q04671	p.Leu183Pro	rs372681761	missense variant	-	NC_000015.10:g.28024870A>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu183Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28024871G>T	NCI-TCGA
OCA2	Q04671	p.Ala185Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28024865C>T	NCI-TCGA
OCA2	Q04671	p.Cys190Tyr	rs781401728	missense variant	-	NC_000015.10:g.28024849C>T	ExAC,gnomAD
OCA2	Q04671	p.Ser191Phe	rs1158730024	missense variant	-	NC_000015.10:g.28024846G>A	TOPMed
OCA2	Q04671	p.Leu193Ter	rs1244040411	stop gained	-	NC_000015.10:g.28022569A>T	gnomAD
OCA2	Q04671	p.Ser195Arg	rs1382588408	missense variant	-	NC_000015.10:g.28022562G>T	gnomAD
OCA2	Q04671	p.Ser195Asn	rs1325595972	missense variant	-	NC_000015.10:g.28022563C>T	TOPMed
OCA2	Q04671	p.Ser195Gly	rs767092342	missense variant	-	NC_000015.10:g.28022564T>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu196Arg	rs144175965	missense variant	-	NC_000015.10:g.28022560A>C	ESP
OCA2	Q04671	p.Tyr197Ser	COSM470468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28022557T>G	NCI-TCGA Cosmic
OCA2	Q04671	p.Tyr197Ter	rs774094276	stop gained	-	NC_000015.10:g.28022556A>C	ExAC
OCA2	Q04671	p.Tyr197Phe	rs1377454425	missense variant	-	NC_000015.10:g.28022557T>A	TOPMed,gnomAD
OCA2	Q04671	p.Pro198Leu	rs183487020	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28022554G>A	UniProt,dbSNP
OCA2	Q04671	p.Pro198Leu	VAR_020623	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28022554G>A	UniProt
OCA2	Q04671	p.Pro198Leu	rs183487020	missense variant	-	NC_000015.10:g.28022554G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro198Leu	RCV000604129	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28022554G>A	ClinVar
OCA2	Q04671	p.Asp199Gly	rs1365641768	missense variant	-	NC_000015.10:g.28022551T>C	gnomAD
OCA2	Q04671	p.Gln200Glu	rs769681202	missense variant	-	NC_000015.10:g.28022549G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gln200His	rs139562520	missense variant	-	NC_000015.10:g.28022547T>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gln200Arg	rs745745058	missense variant	-	NC_000015.10:g.28022548T>C	ExAC,gnomAD
OCA2	Q04671	p.Gly201Arg	rs770939956	missense variant	-	NC_000015.10:g.28022546C>T	ExAC,gnomAD
OCA2	Q04671	p.Leu203Pro	rs1255736031	missense variant	-	NC_000015.10:g.28022539A>G	TOPMed
OCA2	Q04671	p.Gln205His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28022532C>A	NCI-TCGA
OCA2	Q04671	p.Leu206_Pro211del	VAR_006120	inframe_deletion	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Ala208Thr	rs757022651	missense variant	-	NC_000015.10:g.28022525C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu209Phe	rs1202202492	missense variant	-	NC_000015.10:g.28022520T>A	gnomAD
OCA2	Q04671	p.Pro211Leu	rs190612616	missense variant	-	NC_000015.10:g.28022515G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro211Ala	rs777893926	missense variant	-	NC_000015.10:g.28022516G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro211Leu	RCV000179281	missense variant	-	NC_000015.10:g.28022515G>A	ClinVar
OCA2	Q04671	p.Leu212Met	rs748448103	missense variant	-	NC_000015.10:g.28022513G>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu213Val	rs779096530	missense variant	-	NC_000015.10:g.28022509T>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ser216Thr	rs1227842181	missense variant	-	NC_000015.10:g.28022501A>T	gnomAD
OCA2	Q04671	p.Val217Met	rs773252077	missense variant	-	NC_000015.10:g.28018555C>T	ExAC,gnomAD
OCA2	Q04671	p.Leu219Phe	rs552997127	missense variant	-	NC_000015.10:g.28018549G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.His222Gln	rs751309779	missense variant	-	NC_000015.10:g.28018538G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val223Met	rs1390458631	missense variant	-	NC_000015.10:g.28018537C>T	gnomAD
OCA2	Q04671	p.Asp224Gly	rs1339041321	missense variant	-	NC_000015.10:g.28018533T>C	gnomAD
OCA2	Q04671	p.Asp224Tyr	rs1397679702	missense variant	-	NC_000015.10:g.28018534C>A	gnomAD
OCA2	Q04671	p.Ser225Phe	rs1190540714	missense variant	-	NC_000015.10:g.28018530G>A	TOPMed
OCA2	Q04671	p.Ser225Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018530G>T	NCI-TCGA
OCA2	Q04671	p.Thr226Lys	rs377617821	missense variant	-	NC_000015.10:g.28018527G>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Thr226Met	rs377617821	missense variant	-	NC_000015.10:g.28018527G>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu228Ter	RCV000778424	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28018523del	ClinVar
OCA2	Q04671	p.Gln229Lys	rs756661240	missense variant	-	NC_000015.10:g.28018519G>T	ExAC,gnomAD
OCA2	Q04671	p.Val230Leu	rs148659233	missense variant	-	NC_000015.10:g.28018516C>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val230Met	rs148659233	missense variant	-	NC_000015.10:g.28018516C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asp231Asn	rs1158901124	missense variant	-	NC_000015.10:g.28018513C>T	TOPMed
OCA2	Q04671	p.Ala233Val	rs757957606	missense variant	-	NC_000015.10:g.28018506G>A	ExAC
OCA2	Q04671	p.Ala233Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018506G>T	NCI-TCGA
OCA2	Q04671	p.Gly234Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018503C>A	NCI-TCGA
OCA2	Q04671	p.Ala235Ser	rs764929500	missense variant	-	NC_000015.10:g.28018501C>A	ExAC,gnomAD
OCA2	Q04671	p.Leu236Ile	rs759177084	missense variant	-	NC_000015.10:g.28018498G>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu236Pro	rs753597266	missense variant	-	NC_000015.10:g.28018497A>G	ExAC,gnomAD
OCA2	Q04671	p.Val237Leu	rs1362087744	missense variant	-	NC_000015.10:g.28018495C>G	TOPMed
OCA2	Q04671	p.Ala238Thr	rs1352835566	missense variant	-	NC_000015.10:g.28018492C>T	gnomAD
OCA2	Q04671	p.Gly240Val	COSM4053804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28018485C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Pro241Arg	rs2305253	missense variant	-	NC_000015.10:g.28018482G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro241Arg	rs2305253	missense variant	-	NC_000015.10:g.28018482G>C	UniProt,dbSNP
OCA2	Q04671	p.Pro241Arg	VAR_022019	missense variant	-	NC_000015.10:g.28018482G>C	UniProt
OCA2	Q04671	p.Pro241Leu	rs2305253	missense variant	-	NC_000015.10:g.28018482G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro241Arg	RCV000366803	missense variant	Oculocutaneous albinism	NC_000015.10:g.28018482G>C	ClinVar
OCA2	Q04671	p.Ser242Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018479C>A	NCI-TCGA
OCA2	Q04671	p.Ser242Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018479C>T	NCI-TCGA
OCA2	Q04671	p.Arg243His	rs766911058	missense variant	-	NC_000015.10:g.28018476C>T	gnomAD
OCA2	Q04671	p.Arg243Cys	RCV000179741	missense variant	-	NC_000015.10:g.28018477G>A	ClinVar
OCA2	Q04671	p.Arg243Cys	rs138065338	missense variant	-	NC_000015.10:g.28018477G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg243Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018476C>A	NCI-TCGA
OCA2	Q04671	p.Pro244Ser	rs1267286176	missense variant	-	NC_000015.10:g.28018474G>A	TOPMed
OCA2	Q04671	p.Gly245Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018471C>T	NCI-TCGA
OCA2	Q04671	p.Arg246Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018466C>A	NCI-TCGA
OCA2	Q04671	p.His249Gln	NCI-TCGA novel	inframe deletion	-	NC_000015.10:g.28018443_28018457AGCTCCACCACGATG>-	NCI-TCGA
OCA2	Q04671	p.Ile250Thr	rs1204744192	missense variant	-	NC_000015.10:g.28018455A>G	gnomAD
OCA2	Q04671	p.Ile250Val	rs555796333	missense variant	-	NC_000015.10:g.28018456T>C	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val251Ala	rs775978192	missense variant	-	NC_000015.10:g.28018452A>G	ExAC,gnomAD
OCA2	Q04671	p.Val251Met	rs147432138	missense variant	-	NC_000015.10:g.28018453C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu254Arg	rs1258451850	missense variant	-	NC_000015.10:g.28018443A>C	TOPMed
OCA2	Q04671	p.Thr255Ile	rs535681042	missense variant	-	NC_000015.10:g.28018440G>A	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Gln256His	rs1387203745	missense variant	-	NC_000015.10:g.28018436C>G	gnomAD
OCA2	Q04671	p.Asp258Glu	rs757789602	missense variant	-	NC_000015.10:g.28018430G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asp258Val	rs781765892	missense variant	-	NC_000015.10:g.28018431T>A	ExAC,gnomAD
OCA2	Q04671	p.Asp258Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018430G>T	NCI-TCGA
OCA2	Q04671	p.Ala259Thr	rs747689027	missense variant	-	NC_000015.10:g.28018429C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala259Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28018429C>A	NCI-TCGA
OCA2	Q04671	p.Gly261Asp	rs754635524	missense variant	-	NC_000015.10:g.28018422C>T	ExAC,gnomAD
OCA2	Q04671	p.Gly261Val	rs754635524	missense variant	-	NC_000015.10:g.28018422C>A	ExAC,gnomAD
OCA2	Q04671	p.Ser262Phe	rs201304818	missense variant	-	NC_000015.10:g.28018419G>A	gnomAD
OCA2	Q04671	p.Arg263Ser	rs766119766	missense variant	-	NC_000015.10:g.28018415C>A	ExAC,gnomAD
OCA2	Q04671	p.Trp264Cys	rs755904696	missense variant	-	NC_000015.10:g.28018412C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg265Trp	rs750298814	missense variant	-	NC_000015.10:g.28018411G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg265Gln	rs567007076	missense variant	-	NC_000015.10:g.28018410C>T	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Arg266Trp	RCV000247649	missense variant	-	NC_000015.10:g.28018408G>A	ClinVar
OCA2	Q04671	p.Arg266Pro	rs774460527	missense variant	-	NC_000015.10:g.28018407C>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg266Gln	rs774460527	missense variant	-	NC_000015.10:g.28018407C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg266Trp	rs33929465	missense variant	-	NC_000015.10:g.28018408G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg266Trp	rs33929465	missense variant	-	NC_000015.10:g.28018408G>A	UniProt,dbSNP
OCA2	Q04671	p.Arg266Trp	VAR_032094	missense variant	-	NC_000015.10:g.28018408G>A	UniProt
OCA2	Q04671	p.Pro267Leu	rs900925762	missense variant	-	NC_000015.10:g.28018404G>A	gnomAD
OCA2	Q04671	p.Gln268His	COSM4863800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28018400C>G	NCI-TCGA Cosmic
OCA2	Q04671	p.His272Arg	rs1392180778	missense variant	-	NC_000015.10:g.28016179T>C	gnomAD
OCA2	Q04671	p.Asn273LysVal	RCV000486337	missense variant	-	NC_000015.10:g.28016172_28016175delinsGACC	ClinVar
OCA2	Q04671	p.Asn273Thr	rs1163403912	missense variant	-	NC_000015.10:g.28016176T>G	gnomAD
OCA2	Q04671	p.AsnTrp273LysVal	rs797044784	missense variant	-	NC_000015.10:g.28016172_28016175delinsGACC	-
OCA2	Q04671	p.Asn273Lys	rs558126113	missense variant	-	NC_000015.10:g.28016175G>C	1000Genomes,gnomAD
OCA2	Q04671	p.Trp274Leu	rs569395077	missense variant	-	NC_000015.10:g.28016173C>A	1000Genomes
OCA2	Q04671	p.Trp274Cys	rs549973474	missense variant	-	NC_000015.10:g.28016172C>G	1000Genomes
OCA2	Q04671	p.Trp274Gly	rs538385900	missense variant	-	NC_000015.10:g.28016174A>C	1000Genomes
OCA2	Q04671	p.Trp274Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.28016172C>T	NCI-TCGA
OCA2	Q04671	p.Thr275Met	rs369750458	missense variant	-	NC_000015.10:g.28016170G>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Thr275Arg	rs369750458	missense variant	-	NC_000015.10:g.28016170G>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Tyr277Cys	rs1197161915	missense variant	-	NC_000015.10:g.28016164T>C	TOPMed,gnomAD
OCA2	Q04671	p.Tyr277Ter	rs759876062	stop gained	-	NC_000015.10:g.28016163A>T	ExAC,TOPMed
OCA2	Q04671	p.Pro280Ser	rs777030491	missense variant	-	NC_000015.10:g.28016156G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro280Leu	rs771222516	missense variant	-	NC_000015.10:g.28016155G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ser283Arg	rs143320446	missense variant	-	NC_000015.10:g.28016145G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ser283Asn	rs1365554324	missense variant	-	NC_000015.10:g.28016146C>T	gnomAD
OCA2	Q04671	p.Ser283Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28016147T>C	NCI-TCGA
OCA2	Q04671	p.Glu284Gly	rs200651760	missense variant	-	NC_000015.10:g.28016143T>C	1000Genomes
OCA2	Q04671	p.Glu284Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28016144C>T	NCI-TCGA
OCA2	Q04671	p.His285Arg	rs1436294624	missense variant	-	NC_000015.10:g.28016140T>C	TOPMed,gnomAD
OCA2	Q04671	p.Ser289Ter	RCV000180124	frameshift	-	NC_000015.10:g.28016127del	ClinVar
OCA2	Q04671	p.Ser289Arg	rs779603058	missense variant	-	NC_000015.10:g.28016127G>C	ExAC,gnomAD
OCA2	Q04671	p.Arg290Gly	rs769408559	missense variant	-	NC_000015.10:g.28016126T>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg290Gly	rs769408559	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28016126T>C	UniProt,dbSNP
OCA2	Q04671	p.Arg290Gly	VAR_020625	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28016126T>C	UniProt
OCA2	Q04671	p.Arg290Lys	rs1463893944	missense variant	-	NC_000015.10:g.28016125C>T	gnomAD
OCA2	Q04671	p.Phe292Leu	rs745573222	missense variant	-	NC_000015.10:g.28016120A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu293Gly	rs780995523	missense variant	-	NC_000015.10:g.28016116T>C	ExAC,gnomAD
OCA2	Q04671	p.Glu293Asp	rs757035565	missense variant	-	NC_000015.10:g.28016115C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu293Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28016117C>G	NCI-TCGA
OCA2	Q04671	p.Val294Ile	rs1422437649	missense variant	-	NC_000015.10:g.28016114C>T	gnomAD
OCA2	Q04671	p.Thr299Met	rs746768883	missense variant	-	NC_000015.10:g.28014924G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val300Leu	COSM6076977	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28014922C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Ile302Asn	rs982805430	missense variant	-	NC_000015.10:g.28014915A>T	TOPMed
OCA2	Q04671	p.Ser303Gly	rs1209400995	missense variant	-	NC_000015.10:g.28014913T>C	TOPMed
OCA2	Q04671	p.Ser303Thr	rs1360443204	missense variant	-	NC_000015.10:g.28014912C>G	gnomAD
OCA2	Q04671	p.Ile304Ser	rs752701632	missense variant	-	NC_000015.10:g.28014909A>C	ExAC,gnomAD
OCA2	Q04671	p.Ile304Val	rs758386323	missense variant	-	NC_000015.10:g.28014910T>C	ExAC,gnomAD
OCA2	Q04671	p.Arg305Trp	RCV000001013	missense variant	Skin/hair/eye pigmentation, variation in, 1 (SHEP1)	NC_000015.10:g.28014907G>A	ClinVar
OCA2	Q04671	p.Arg305Gln	rs141603023	missense variant	-	NC_000015.10:g.28014906C>T	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg305Trp	rs1800401	missense variant	Skin/hair/eye pigmentation, variation in, 1 (shep1)	NC_000015.10:g.28014907G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg305Trp	rs1800401	missense variant	Skin/hair/eye pigmentation, variation in, 1 (shep1)	NC_000015.10:g.28014907G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala306Val	rs754030928	missense variant	-	NC_000015.10:g.28014903G>A	ExAC,gnomAD
OCA2	Q04671	p.Ser307Phe	COSM3500264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28014900G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Gln309Ter	COSM1323254	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.28014895G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Gln309Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28014895G>T	NCI-TCGA
OCA2	Q04671	p.Gln309Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28014894T>C	NCI-TCGA
OCA2	Q04671	p.Ala313Val	COSM4053800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.28014882G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Ala313Asp	rs1030027107	missense variant	-	NC_000015.10:g.28014882G>T	TOPMed
OCA2	Q04671	p.Val314Gly	rs762262964	missense variant	-	NC_000015.10:g.28014879A>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val314Leu	rs767921992	missense variant	-	NC_000015.10:g.28014880C>G	ExAC,gnomAD
OCA2	Q04671	p.Pro315Arg	rs1422153276	missense variant	-	NC_000015.10:g.28014876G>C	gnomAD
OCA2	Q04671	p.Pro315Ser	rs201481836	missense variant	-	NC_000015.10:g.28014877G>A	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Leu316Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28014874G>T	NCI-TCGA
OCA2	Q04671	p.Met318Ile	rs529219961	missense variant	-	NC_000015.10:g.28014866C>T	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Met318Thr	rs764662281	missense variant	-	NC_000015.10:g.28014867A>G	ExAC,gnomAD
OCA2	Q04671	p.His320Tyr	rs776265113	missense variant	-	NC_000015.10:g.28014862G>A	ExAC,gnomAD
OCA2	Q04671	p.Gln321Arg	rs1425223093	missense variant	-	NC_000015.10:g.28014858T>C	TOPMed
OCA2	Q04671	p.Gln321Glu	rs542587081	missense variant	-	NC_000015.10:g.28014859G>C	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Gln321Ter	rs542587081	stop gained	-	NC_000015.10:g.28014859G>A	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Tyr322Cys	rs573678989	missense variant	-	NC_000015.10:g.28014855T>C	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Arg324His	rs1199627951	missense variant	-	NC_000015.10:g.28014849C>T	gnomAD
OCA2	Q04671	p.Arg324Cys	rs146795884	missense variant	-	NC_000015.10:g.28014850G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly325Arg	rs987498934	missense variant	-	NC_000015.10:g.28014847C>T	TOPMed,gnomAD
OCA2	Q04671	p.Val327Ala	rs780219028	missense variant	-	NC_000015.10:g.28014840A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val327Leu	rs749321625	missense variant	-	NC_000015.10:g.28014841C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val327Ile	rs749321625	missense variant	-	NC_000015.10:g.28014841C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gln330Ter	RCV000755081	frameshift	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.28014833delinsTCT	ClinVar
OCA2	Q04671	p.Val331Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.28014829C>G	NCI-TCGA
OCA2	Q04671	p.Thr332Pro	rs143615230	missense variant	-	NC_000015.10:g.28014826T>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Thr332Ser	rs1390874457	missense variant	-	NC_000015.10:g.28014825G>C	TOPMed,gnomAD
OCA2	Q04671	p.Ala334Thr	rs1456118236	missense variant	-	NC_000015.10:g.28014820C>T	gnomAD
OCA2	Q04671	p.Ala334Thr	RCV000624441	missense variant	Inborn genetic diseases	NC_000015.10:g.28014820C>T	ClinVar
OCA2	Q04671	p.Ala334Val	RCV000001009	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.28014819G>A	ClinVar
OCA2	Q04671	p.Ala334Val	rs121918168	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28014819G>A	UniProt,dbSNP
OCA2	Q04671	p.Ala334Val	VAR_020626	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.28014819G>A	UniProt
OCA2	Q04671	p.Ala334Val	rs121918168	missense variant	-	NC_000015.10:g.28014819G>A	TOPMed,gnomAD
OCA2	Q04671	p.Thr335Met	rs533988694	missense variant	-	NC_000015.10:g.28014816G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala336Val	RCV000241894	missense variant	-	NC_000015.10:g.28014813G>A	ClinVar
OCA2	Q04671	p.Ala336Val	rs34010619	missense variant	-	NC_000015.10:g.28014813G>A	UniProt,dbSNP
OCA2	Q04671	p.Ala336Val	VAR_032095	missense variant	-	NC_000015.10:g.28014813G>A	UniProt
OCA2	Q04671	p.Ala336Val	rs34010619	missense variant	-	NC_000015.10:g.28014813G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala339Ser	RCV000180483	missense variant	-	NC_000015.10:g.28014805C>A	ClinVar
OCA2	Q04671	p.Ala339Glu	rs747940330	missense variant	-	NC_000015.10:g.28014804G>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala339Thr	rs148468031	missense variant	-	NC_000015.10:g.28014805C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala339Val	rs747940330	missense variant	-	NC_000015.10:g.28014804G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala339Ser	rs148468031	missense variant	-	NC_000015.10:g.28014805C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val341Ile	rs368159473	missense variant	-	NC_000015.10:g.28014799C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val341Ile	RCV000481251	missense variant	-	NC_000015.10:g.28014799C>T	ClinVar
OCA2	Q04671	p.Tyr342Cys	RCV000415383	missense variant	Albinism	NC_000015.10:g.28014795T>C	ClinVar
OCA2	Q04671	p.Tyr342Ser	rs142931246	missense variant	-	NC_000015.10:g.28014795T>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Tyr342Ter	rs1800403	stop gained	-	NC_000015.10:g.28014794G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Tyr342Cys	rs142931246	missense variant	-	NC_000015.10:g.28014795T>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala343Thr	rs756251130	missense variant	-	NC_000015.10:g.28014793C>T	ExAC,gnomAD
OCA2	Q04671	p.Ala343Val	rs746027599	missense variant	-	NC_000015.10:g.28014792G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu344Pro	rs1384647542	missense variant	-	NC_000015.10:g.28014789A>G	gnomAD
OCA2	Q04671	p.Ile346Val	rs1375088412	missense variant	-	NC_000015.10:g.28014784T>C	gnomAD
OCA2	Q04671	p.Ile349Met	rs767182132	missense variant	-	NC_000015.10:g.27990645G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val350Met	rs533478642	missense variant	-	NC_000015.10:g.27990644C>T	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val350Met	rs533478642	missense variant	-	NC_000015.10:g.27990644C>T	UniProt,dbSNP
OCA2	Q04671	p.Val350Met	VAR_020627	missense variant	-	NC_000015.10:g.27990644C>T	UniProt
OCA2	Q04671	p.Val350Leu	COSM4862801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27990644C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg352Ter	COSM6141940	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27990638T>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg352Ser	RCV000755083	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27990636T>G	ClinVar
OCA2	Q04671	p.Thr353Ile	rs1286182158	missense variant	-	NC_000015.10:g.27990634G>A	gnomAD
OCA2	Q04671	p.Leu354Val	rs1238971504	missense variant	-	NC_000015.10:g.27990632G>C	gnomAD
OCA2	Q04671	p.Leu354Pro	rs1008522653	missense variant	-	NC_000015.10:g.27990631A>G	TOPMed,gnomAD
OCA2	Q04671	p.Ala355Val	RCV000755084	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27990628G>A	ClinVar
OCA2	Q04671	p.Ala355Val	rs570914443	missense variant	-	NC_000015.10:g.27990628G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala356Thr	rs1246016828	missense variant	-	NC_000015.10:g.27990626C>T	gnomAD
OCA2	Q04671	p.Ala356Val	rs1340355143	missense variant	-	NC_000015.10:g.27990625G>A	gnomAD
OCA2	Q04671	p.Met357Thr	rs1384475205	missense variant	-	NC_000015.10:g.27990622A>G	TOPMed,gnomAD
OCA2	Q04671	p.Gly359Arg	rs1555368749	missense variant	-	NC_000015.10:g.27990617C>G	-
OCA2	Q04671	p.Gly359Arg	RCV000755085	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27990617C>G	ClinVar
OCA2	Q04671	p.Gly359Asp	rs200398581	missense variant	-	NC_000015.10:g.27990616C>T	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly359Ala	rs200398581	missense variant	-	NC_000015.10:g.27990616C>G	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly359Arg	RCV000520462	missense variant	-	NC_000015.10:g.27990617C>G	ClinVar
OCA2	Q04671	p.Ser360Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27990613G>A	NCI-TCGA
OCA2	Q04671	p.Leu361Ile	rs769767739	missense variant	-	NC_000015.10:g.27990611G>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu361Val	rs769767739	missense variant	-	NC_000015.10:g.27990611G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala362Thr	rs759511199	missense variant	-	NC_000015.10:g.27990608C>T	ExAC,gnomAD
OCA2	Q04671	p.Leu364Val	rs1455772419	missense variant	-	NC_000015.10:g.27990602G>C	TOPMed
OCA2	Q04671	p.Leu364Arg	rs1290121824	missense variant	-	NC_000015.10:g.27990601A>C	TOPMed
OCA2	Q04671	p.Ala365Ser	COSM4859259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27990599C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Ala366Gly	rs562134779	missense variant	-	NC_000015.10:g.27990595G>C	1000Genomes
OCA2	Q04671	p.Ala366Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27990595G>T	NCI-TCGA
OCA2	Q04671	p.Ala366Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27990596C>A	NCI-TCGA
OCA2	Q04671	p.Ala366Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27990596C>T	NCI-TCGA
OCA2	Q04671	p.Ala368Val	RCV000442309	missense variant	-	NC_000015.10:g.27990589G>A	ClinVar
OCA2	Q04671	p.Ala368Val	rs61745150	missense variant	-	NC_000015.10:g.27990589G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala368Val	rs61745150	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27990589G>A	UniProt,dbSNP
OCA2	Q04671	p.Ala368Val	VAR_006124	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27990589G>A	UniProt
OCA2	Q04671	p.Ile370Thr	rs34731820	missense variant	-	NC_000015.10:g.27990583A>G	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile370Thr	rs34731820	missense variant	-	NC_000015.10:g.27990583A>G	UniProt,dbSNP
OCA2	Q04671	p.Ile370Thr	VAR_020628	missense variant	-	NC_000015.10:g.27990583A>G	UniProt
OCA2	Q04671	p.Ile370Thr	RCV000778423	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27990583A>G	ClinVar
OCA2	Q04671	p.Ile370Thr	RCV000766740	missense variant	-	NC_000015.10:g.27990583A>G	ClinVar
OCA2	Q04671	p.Asp372Asn	rs370353320	missense variant	-	NC_000015.10:g.27990578C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg373Ile	rs1444457881	missense variant	-	NC_000015.10:g.27989665C>A	TOPMed
OCA2	Q04671	p.Arg373Ile	rs1444457881	missense variant	-	NC_000015.10:g.27989665C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Leu376Val	rs1467022914	missense variant	-	NC_000015.10:g.27989657G>C	gnomAD
OCA2	Q04671	p.Thr377Ser	rs758047811	missense variant	-	NC_000015.10:g.27989654T>A	ExAC,gnomAD
OCA2	Q04671	p.His378Gln	rs752317540	missense variant	-	NC_000015.10:g.27989649A>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val379Met	rs1464056529	missense variant	-	NC_000015.10:g.27989648C>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Val379Met	rs1464056529	missense variant	-	NC_000015.10:g.27989648C>T	gnomAD
OCA2	Q04671	p.Val379Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27989647A>G	NCI-TCGA
OCA2	Q04671	p.Val380Leu	rs41529845	missense variant	-	NC_000015.10:g.27989645C>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val380Met	rs41529845	missense variant	-	NC_000015.10:g.27989645C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile383Val	rs1322187908	missense variant	-	NC_000015.10:g.27989636T>C	TOPMed
OCA2	Q04671	p.Ile383Thr	rs1477461829	missense variant	-	NC_000015.10:g.27989635A>G	gnomAD
OCA2	Q04671	p.Asp384Gly	rs766300008	missense variant	-	NC_000015.10:g.27989632T>C	ExAC,gnomAD
OCA2	Q04671	p.Asp384Asn	rs1365451718	missense variant	-	NC_000015.10:g.27989633C>T	TOPMed
OCA2	Q04671	p.Phe385Ile	RCV000192434	missense variant	-	NC_000015.10:g.27989630A>T	ClinVar
OCA2	Q04671	p.Phe385Ile	rs137956605	missense variant	-	NC_000015.10:g.27989630A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Phe385Ile	RCV000732449	missense variant	-	NC_000015.10:g.27989630A>T	ClinVar
OCA2	Q04671	p.Thr387Met	rs150335311	missense variant	-	NC_000015.10:g.27989623G>A	UniProt,dbSNP
OCA2	Q04671	p.Thr387Met	VAR_020629	missense variant	-	NC_000015.10:g.27989623G>A	UniProt
OCA2	Q04671	p.Thr387Met	rs150335311	missense variant	-	NC_000015.10:g.27989623G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu391Pro	rs774722293	missense variant	-	NC_000015.10:g.27989611A>G	ExAC,gnomAD
OCA2	Q04671	p.Phe392Leu	rs1276381840	missense variant	-	NC_000015.10:g.27989609A>G	gnomAD
OCA2	Q04671	p.Gly393Cys	COSM4860100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27989606C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Gly393Ser	rs1343090538	missense variant	-	NC_000015.10:g.27989606C>T	gnomAD
OCA2	Q04671	p.Gly393Val	rs749661379	missense variant	-	NC_000015.10:g.27989605C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met394Ile	RCV000001016	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27989601C>T	ClinVar
OCA2	Q04671	p.Met394Ile	rs121918171	missense variant	-	NC_000015.10:g.27989601C>T	ExAC,gnomAD
OCA2	Q04671	p.Met394Ile	rs121918171	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27989601C>T	UniProt,dbSNP
OCA2	Q04671	p.Met394Ile	VAR_020630	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27989601C>T	UniProt
OCA2	Q04671	p.Met395Leu	rs757286784	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27986643T>G	UniProt,dbSNP
OCA2	Q04671	p.Met395Leu	VAR_006126	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27986643T>G	UniProt
OCA2	Q04671	p.Met395Leu	rs757286784	missense variant	-	NC_000015.10:g.27986643T>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met395Leu	RCV000174230	missense variant	-	NC_000015.10:g.27986643T>G	ClinVar
OCA2	Q04671	p.Met395Ile	rs1224081286	missense variant	-	NC_000015.10:g.27986641C>A	gnomAD
OCA2	Q04671	p.Met395Thr	rs913972182	missense variant	-	NC_000015.10:g.27986642A>G	TOPMed,gnomAD
OCA2	Q04671	p.Ile396Met	rs751659462	missense variant	-	NC_000015.10:g.27986638G>C	ExAC,gnomAD
OCA2	Q04671	p.Ile396Phe	rs1323229424	missense variant	-	NC_000015.10:g.27986640T>A	gnomAD
OCA2	Q04671	p.Leu397Ser	rs1353549001	missense variant	-	NC_000015.10:g.27986636A>G	gnomAD
OCA2	Q04671	p.Leu397Phe	rs764323487	missense variant	-	NC_000015.10:g.27986635T>A	ExAC
OCA2	Q04671	p.Val398Ile	rs75208498	missense variant	-	NC_000015.10:g.27986634C>T	ExAC,gnomAD
OCA2	Q04671	p.Val398Leu	rs75208498	missense variant	-	NC_000015.10:g.27986634C>A	ExAC,gnomAD
OCA2	Q04671	p.Val398Ala	rs1233256286	missense variant	-	NC_000015.10:g.27986633A>G	TOPMed
OCA2	Q04671	p.Ala399Thr	rs1400121712	missense variant	-	NC_000015.10:g.27986631C>T	gnomAD
OCA2	Q04671	p.Ile400Met	rs1295906290	missense variant	-	NC_000015.10:g.27986626T>C	gnomAD
OCA2	Q04671	p.Ile400Val	rs138440818	missense variant	-	NC_000015.10:g.27986628T>C	ESP,ExAC,gnomAD
OCA2	Q04671	p.Phe401Leu	rs145880356	missense variant	-	NC_000015.10:g.27986625A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Phe401Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27986624A>G	NCI-TCGA
OCA2	Q04671	p.Ser402Leu	rs777116832	missense variant	-	NC_000015.10:g.27986621G>A	ExAC,gnomAD
OCA2	Q04671	p.Glu403Lys	rs140703213	missense variant	-	NC_000015.10:g.27986619C>T	ESP,TOPMed,gnomAD
OCA2	Q04671	p.Glu403Gln	COSM6141942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27986619C>G	NCI-TCGA Cosmic
OCA2	Q04671	p.Glu403Gly	rs771308386	missense variant	-	NC_000015.10:g.27986618T>C	ExAC,gnomAD
OCA2	Q04671	p.Thr404Met	RCV000193262	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27986615G>A	ClinVar
OCA2	Q04671	p.Thr404Met	rs144812594	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27986615G>A	UniProt,dbSNP
OCA2	Q04671	p.Thr404Met	VAR_006127	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27986615G>A	UniProt
OCA2	Q04671	p.Thr404Met	rs144812594	missense variant	-	NC_000015.10:g.27986615G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Thr404Met	RCV000413048	missense variant	-	NC_000015.10:g.27986615G>A	ClinVar
OCA2	Q04671	p.Thr404Met	RCV000755087	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27986615G>A	ClinVar
OCA2	Q04671	p.Thr404Met	rs144812594	missense variant	-	NC_000015.10:g.27986615G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Gly405Arg	rs768185678	missense variant	-	NC_000015.10:g.27986613C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly405Ala	rs1261144207	missense variant	-	NC_000015.10:g.27986612C>G	gnomAD
OCA2	Q04671	p.Phe407Cys	rs1193068751	missense variant	-	NC_000015.10:g.27986606A>C	gnomAD
OCA2	Q04671	p.Asp408Val	rs1220615392	missense variant	-	NC_000015.10:g.27986603T>A	gnomAD
OCA2	Q04671	p.Asp408Asn	rs769550106	missense variant	-	NC_000015.10:g.27986604C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asp408Tyr	rs769550106	missense variant	-	NC_000015.10:g.27986604C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Tyr409Cys	RCV000174233	missense variant	-	NC_000015.10:g.27986600T>C	ClinVar
OCA2	Q04671	p.Tyr409Cys	rs376863406	missense variant	-	NC_000015.10:g.27986600T>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Cys410Arg	COSM1301007	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27986598A>G	NCI-TCGA Cosmic
OCA2	Q04671	p.Cys410Tyr	rs1219194521	missense variant	-	NC_000015.10:g.27986597C>T	gnomAD
OCA2	Q04671	p.Ala411Asp	rs1454791644	missense variant	-	NC_000015.10:g.27986594G>T	TOPMed
OCA2	Q04671	p.Ala411Asp	rs1454791644	missense variant	-	NC_000015.10:g.27986594G>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Val412Glu	COSM4860334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27986591A>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Val412Ile	rs373759416	missense variant	-	NC_000015.10:g.27986592C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Tyr415Asn	rs1179079179	missense variant	-	NC_000015.10:g.27985185A>T	TOPMed,gnomAD
OCA2	Q04671	p.Tyr415His	rs1179079179	missense variant	-	NC_000015.10:g.27985185A>G	TOPMed,gnomAD
OCA2	Q04671	p.Arg416Gln	rs750843354	missense variant	-	NC_000015.10:g.27985181C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg416Gly	COSM4858984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27985182G>C	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg416Trp	rs756482913	missense variant	-	NC_000015.10:g.27985182G>A	ExAC,gnomAD
OCA2	Q04671	p.Leu417Ile	rs1202132050	missense variant	-	NC_000015.10:g.27985179G>T	gnomAD
OCA2	Q04671	p.Ser418Tyr	rs1022437524	missense variant	-	NC_000015.10:g.27985175G>T	TOPMed
OCA2	Q04671	p.Arg419Gln	rs1800407	missense variant	Skin/hair/eye pigmentation, variation in, 1 (shep1)	NC_000015.10:g.27985172C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg419Gly	rs143218168	missense variant	-	NC_000015.10:g.27985173G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg419Trp	rs143218168	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27985173G>A	UniProt,dbSNP
OCA2	Q04671	p.Arg419Trp	VAR_006129	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27985173G>A	UniProt
OCA2	Q04671	p.Arg419Trp	rs143218168	missense variant	-	NC_000015.10:g.27985173G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg419Trp	RCV000174460	missense variant	-	NC_000015.10:g.27985173G>A	ClinVar
OCA2	Q04671	p.Arg419Gln	RCV000397427	missense variant	Oculocutaneous albinism	NC_000015.10:g.27985172C>T	ClinVar
OCA2	Q04671	p.Arg421Trp	rs372899234	missense variant	-	NC_000015.10:g.27985167G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg421Gln	rs369322694	missense variant	-	NC_000015.10:g.27985166C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg421Trp	rs372899234	missense variant	-	NC_000015.10:g.27985167G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Val422Ala	rs759074829	missense variant	-	NC_000015.10:g.27985163A>G	ExAC,gnomAD
OCA2	Q04671	p.Trp423Ter	rs1397133196	stop gained	-	NC_000015.10:g.27985159C>T	gnomAD
OCA2	Q04671	p.Trp423Ter	rs1397133196	stop gained	-	NC_000015.10:g.27985159C>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Trp423Ter	rs776354621	stop gained	-	NC_000015.10:g.27985160C>T	ExAC,gnomAD
OCA2	Q04671	p.Ala424Thr	rs1401500525	missense variant	-	NC_000015.10:g.27985158C>T	gnomAD
OCA2	Q04671	p.Met425Leu	rs201484597	missense variant	-	NC_000015.10:g.27985155T>G	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met425Ile	rs374919133	missense variant	-	NC_000015.10:g.27985153C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met425Val	rs201484597	missense variant	-	NC_000015.10:g.27985155T>C	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met425Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27985155T>A	NCI-TCGA
OCA2	Q04671	p.Met425Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27985153C>G	NCI-TCGA
OCA2	Q04671	p.Met425del	VAR_006130	inframe_deletion	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Ile426Thr	rs145247627	missense variant	-	NC_000015.10:g.27985151A>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met428Val	rs748135162	missense variant	-	NC_000015.10:g.27985146T>C	ExAC,gnomAD
OCA2	Q04671	p.Cys430Arg	rs778818617	missense variant	-	NC_000015.10:g.27985140A>G	ExAC,gnomAD
OCA2	Q04671	p.Cys430Phe	rs1189453897	missense variant	-	NC_000015.10:g.27985139C>A	gnomAD
OCA2	Q04671	p.Cys430Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27985139C>G	NCI-TCGA
OCA2	Q04671	p.Leu431Val	rs1379621042	missense variant	-	NC_000015.10:g.27985137G>C	TOPMed
OCA2	Q04671	p.Ala433Thr	rs749410903	missense variant	-	NC_000015.10:g.27985131C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala433Val	rs780239785	missense variant	-	NC_000015.10:g.27985130G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala433Thr	rs749410903	missense variant	-	NC_000015.10:g.27985131C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Ala434Ser	rs1215470680	missense variant	-	NC_000015.10:g.27985128C>A	TOPMed,gnomAD
OCA2	Q04671	p.Ala434Val	rs750755829	missense variant	-	NC_000015.10:g.27985127G>A	ExAC,gnomAD
OCA2	Q04671	p.Ala434Thr	rs1215470680	missense variant	-	NC_000015.10:g.27985128C>T	TOPMed,gnomAD
OCA2	Q04671	p.Val435Ile	rs549399707	missense variant	-	NC_000015.10:g.27985125C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val435Ile	RCV000341602	missense variant	Oculocutaneous albinism	NC_000015.10:g.27985125C>T	ClinVar
OCA2	Q04671	p.Val435Leu	COSM6076983	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27985125C>G	NCI-TCGA Cosmic
OCA2	Q04671	p.Ser437Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27985118G>C	NCI-TCGA
OCA2	Q04671	p.Phe439Leu	rs764588411	missense variant	-	NC_000015.10:g.27985111G>C	ExAC,gnomAD
OCA2	Q04671	p.Phe439Ser	rs1291485093	missense variant	-	NC_000015.10:g.27985112A>G	gnomAD
OCA2	Q04671	p.Leu440Phe	RCV000766763	missense variant	-	NC_000015.10:g.27985108C>G	ClinVar
OCA2	Q04671	p.Leu440Phe	rs1800408	missense variant	-	NC_000015.10:g.27985108C>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu440His	VAR_006131	Missense	-	-	UniProt
OCA2	Q04671	p.Asp441Gly	rs147816326	missense variant	-	NC_000015.10:g.27985106T>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asp441Gly	RCV000755088	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27985106T>C	ClinVar
OCA2	Q04671	p.Val443Ile	rs121918166	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27985101C>T	UniProt,dbSNP
OCA2	Q04671	p.Val443Ile	VAR_006132	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27985101C>T	UniProt
OCA2	Q04671	p.Val443Ile	rs121918166	missense variant	-	NC_000015.10:g.27985101C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val443Ala	rs1325388159	missense variant	-	NC_000015.10:g.27985100A>G	gnomAD
OCA2	Q04671	p.Val443Ile	RCV000001006	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27985101C>T	ClinVar
OCA2	Q04671	p.Val443Ile	RCV000623104	missense variant	Inborn genetic diseases	NC_000015.10:g.27985101C>T	ClinVar
OCA2	Q04671	p.Val443Ile	RCV000477815	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27985101C>T	ClinVar
OCA2	Q04671	p.Val443Ile	RCV000310636	missense variant	-	NC_000015.10:g.27985101C>T	ClinVar
OCA2	Q04671	p.Thr445Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27985094G>A	NCI-TCGA
OCA2	Q04671	p.Met446Thr	rs1185751753	missense variant	-	NC_000015.10:g.27985091A>G	TOPMed,gnomAD
OCA2	Q04671	p.Met446Val	rs140566426	missense variant	-	NC_000015.10:g.27985092T>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu447Phe	rs1289790604	missense variant	-	NC_000015.10:g.27985089G>A	gnomAD
OCA2	Q04671	p.Thr450Met	rs772019064	missense variant	-	NC_000015.10:g.27985079G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Thr450Lys	COSM1493409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27985079G>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Thr450Ala	rs1478488720	missense variant	-	NC_000015.10:g.27985080T>C	gnomAD
OCA2	Q04671	p.Thr450Met	rs772019064	missense variant	-	NC_000015.10:g.27985079G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro451His	rs886051024	missense variant	-	NC_000015.10:g.27985076G>T	-
OCA2	Q04671	p.Pro451His	RCV000340647	missense variant	Oculocutaneous albinism	NC_000015.10:g.27985076G>T	ClinVar
OCA2	Q04671	p.Val452Met	rs1444988470	missense variant	-	NC_000015.10:g.27985074C>T	gnomAD
OCA2	Q04671	p.Ile454Thr	rs574602845	missense variant	-	NC_000015.10:g.27985067A>G	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Arg455Gly	RCV000778422	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27985065T>C	ClinVar
OCA2	Q04671	p.Arg455Lys	rs139853866	missense variant	-	NC_000015.10:g.27985064C>T	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg455Ser	rs778045887	missense variant	-	NC_000015.10:g.27983483C>A	ExAC,gnomAD
OCA2	Q04671	p.Arg455Gly	rs200764804	missense variant	-	NC_000015.10:g.27985065T>C	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Cys457Phe	RCV000325523	missense variant	Oculocutaneous albinism	NC_000015.10:g.27983478C>A	ClinVar
OCA2	Q04671	p.Cys457Ser	rs886051023	missense variant	-	NC_000015.10:g.27983478C>G	TOPMed
OCA2	Q04671	p.Cys457Phe	rs886051023	missense variant	-	NC_000015.10:g.27983478C>A	TOPMed
OCA2	Q04671	p.Leu460Arg	rs779636188	missense variant	-	NC_000015.10:g.27983469A>C	ExAC,gnomAD
OCA2	Q04671	p.Leu460Val	rs748692597	missense variant	-	NC_000015.10:g.27983470G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu460Phe	rs748692597	missense variant	-	NC_000015.10:g.27983470G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asn461Ser	rs547514436	missense variant	-	NC_000015.10:g.27983466T>C	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Asp463Asn	rs1463949850	missense variant	-	NC_000015.10:g.27983461C>T	TOPMed
OCA2	Q04671	p.Pro464Leu	COSM4873674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27983457G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg465Gly	rs1346058725	missense variant	-	NC_000015.10:g.27983455T>C	gnomAD
OCA2	Q04671	p.Val467Ile	rs750011165	missense variant	-	NC_000015.10:g.27983449C>T	ExAC,gnomAD
OCA2	Q04671	p.Ala470Glu	rs756898802	missense variant	-	NC_000015.10:g.27983439G>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala470Val	rs756898802	missense variant	-	NC_000015.10:g.27983439G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu471Asp	COSM4053793	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27983435T>G	NCI-TCGA Cosmic
OCA2	Q04671	p.Val472Leu	rs751347619	missense variant	-	NC_000015.10:g.27983434C>A	ExAC,gnomAD
OCA2	Q04671	p.Ile473Ser	VAR_006134	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Phe474Val	COSM4053791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27983428A>C	NCI-TCGA Cosmic
OCA2	Q04671	p.Phe474SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.27983427A>-	NCI-TCGA
OCA2	Q04671	p.Asn476Ser	RCV000192364	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983421T>C	ClinVar
OCA2	Q04671	p.Asn476Ser	rs763819379	missense variant	-	NC_000015.10:g.27983421T>C	ExAC
OCA2	Q04671	p.Asn476Asp	VAR_043700	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Ile477Val	rs1050639691	missense variant	-	NC_000015.10:g.27983419T>C	TOPMed
OCA2	Q04671	p.Ile477Thr	rs148413474	missense variant	-	NC_000015.10:g.27983418A>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile477Met	rs775410609	missense variant	-	NC_000015.10:g.27983417A>C	ExAC,gnomAD
OCA2	Q04671	p.Ala480Pro	rs765246177	missense variant	-	NC_000015.10:g.27983410C>G	ExAC,gnomAD
OCA2	Q04671	p.Ala481Thr	rs74653330	missense variant	-	NC_000015.10:g.27983407C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala481Thr	rs74653330	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27983407C>T	UniProt,dbSNP
OCA2	Q04671	p.Ala481Thr	VAR_007940	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27983407C>T	UniProt
OCA2	Q04671	p.Ala481Thr	RCV000001005	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983407C>T	ClinVar
OCA2	Q04671	p.Thr482Ser	COSM71915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27983403G>C	NCI-TCGA Cosmic
OCA2	Q04671	p.Thr482Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27983404T>G	NCI-TCGA
OCA2	Q04671	p.Ile484Val	rs776760943	missense variant	-	NC_000015.10:g.27983398T>C	ExAC,gnomAD
OCA2	Q04671	p.Gly485Arg	rs747214535	missense variant	-	NC_000015.10:g.27983395C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Gly485Arg	RCV000270433	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983395C>T	ClinVar
OCA2	Q04671	p.Gly485Arg	rs747214535	missense variant	-	NC_000015.10:g.27983395C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asp486Asn	rs772324459	missense variant	-	NC_000015.10:g.27983392C>T	ExAC,gnomAD
OCA2	Q04671	p.Asp486Gly	rs748606976	missense variant	-	NC_000015.10:g.27983391T>C	ExAC,gnomAD
OCA2	Q04671	p.Asp486Tyr	RCV000755089	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27983392C>A	ClinVar
OCA2	Q04671	p.Asp486Tyr	rs772324459	missense variant	-	NC_000015.10:g.27983392C>A	ExAC,gnomAD
OCA2	Q04671	p.Asp486ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.27983392C>-	NCI-TCGA
OCA2	Q04671	p.Asn489Tyr	RCV000513084	missense variant	-	NC_000015.10:g.27983383T>A	ClinVar
OCA2	Q04671	p.Asn489Asp	RCV000413429	missense variant	-	NC_000015.10:g.27983383T>C	ClinVar
OCA2	Q04671	p.Asn489Asp	rs121918170	missense variant	-	NC_000015.10:g.27983383T>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asn489Tyr	rs121918170	missense variant	-	NC_000015.10:g.27983383T>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asn489Asp	RCV000001012	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983383T>C	ClinVar
OCA2	Q04671	p.Asn489Asp	RCV000762940	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27983383T>C	ClinVar
OCA2	Q04671	p.Asn489Asp	rs121918170	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27983383T>C	UniProt,dbSNP
OCA2	Q04671	p.Asn489Asp	VAR_006135	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27983383T>C	UniProt
OCA2	Q04671	p.Val490Ile	rs1217644417	missense variant	-	NC_000015.10:g.27983380C>T	gnomAD
OCA2	Q04671	p.Ile491Phe	rs1252025821	missense variant	-	NC_000015.10:g.27983377T>A	TOPMed
OCA2	Q04671	p.Val493Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27983371C>T	NCI-TCGA
OCA2	Q04671	p.Ser494Phe	rs370239668	missense variant	-	NC_000015.10:g.27983367G>A	ESP,TOPMed
OCA2	Q04671	p.Asn495Lys	rs756887531	missense variant	-	NC_000015.10:g.27983363G>T	ExAC,gnomAD
OCA2	Q04671	p.Asn495Asp	rs202126510	missense variant	-	NC_000015.10:g.27983365T>C	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asn495Ile	rs531606889	missense variant	-	NC_000015.10:g.27983364T>A	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Glu497Asp	rs141015793	missense variant	-	NC_000015.10:g.27983357C>G	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg499Met	rs763883728	missense variant	-	NC_000015.10:g.27983352C>A	ExAC,gnomAD
OCA2	Q04671	p.Lys500Met	rs1353048090	missense variant	-	NC_000015.10:g.27983349T>A	gnomAD
OCA2	Q04671	p.Met501Thr	rs1419933291	missense variant	-	NC_000015.10:g.27983346A>G	gnomAD
OCA2	Q04671	p.Met501Leu	rs1299589816	missense variant	-	NC_000015.10:g.27983347T>A	gnomAD
OCA2	Q04671	p.Gly502Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27966822C>T	NCI-TCGA
OCA2	Q04671	p.Leu503Pro	rs1467127734	missense variant	-	NC_000015.10:g.27966818A>G	gnomAD
OCA2	Q04671	p.Phe505Val	rs754867134	missense variant	-	NC_000015.10:g.27966813A>C	ExAC,gnomAD
OCA2	Q04671	p.Phe505Ser	rs753721437	missense variant	-	NC_000015.10:g.27966812A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala506Ser	COSM4863248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27966810C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Ala506Thr	rs1006252326	missense variant	-	NC_000015.10:g.27966810C>T	gnomAD
OCA2	Q04671	p.Gly507Arg	rs138606284	missense variant	-	NC_000015.10:g.27966807C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly507Arg	rs138606284	missense variant	-	NC_000015.10:g.27966807C>T	NCI-TCGA
OCA2	Q04671	p.Thr509Ala	rs926792583	missense variant	-	NC_000015.10:g.27966801T>C	TOPMed
OCA2	Q04671	p.Ala510Thr	rs201590781	missense variant	-	NC_000015.10:g.27966798C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.His511Leu	rs1271022101	missense variant	-	NC_000015.10:g.27966794T>A	TOPMed
OCA2	Q04671	p.His511Asp	rs1229938803	missense variant	-	NC_000015.10:g.27966795G>C	TOPMed
OCA2	Q04671	p.Met512Leu	rs1439320132	missense variant	-	NC_000015.10:g.27966792T>A	gnomAD
OCA2	Q04671	p.Met512Ile	rs762173959	missense variant	-	NC_000015.10:g.27966790C>T	ExAC,gnomAD
OCA2	Q04671	p.Phe513Leu	rs949612687	missense variant	-	NC_000015.10:g.27966789A>G	TOPMed
OCA2	Q04671	p.Phe513Leu	rs1299274596	missense variant	-	NC_000015.10:g.27966787G>C	gnomAD
OCA2	Q04671	p.Ile514Ser	rs142152913	missense variant	-	NC_000015.10:g.27966785A>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile514Val	rs1220736811	missense variant	-	NC_000015.10:g.27966786T>C	TOPMed
OCA2	Q04671	p.Ile514Thr	rs142152913	missense variant	-	NC_000015.10:g.27966785A>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Cys517Ser	COSM6076985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27966777A>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Leu518His	rs886051021	missense variant	-	NC_000015.10:g.27966773A>T	-
OCA2	Q04671	p.Leu518Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27966774G>A	NCI-TCGA
OCA2	Q04671	p.Leu518His	RCV000274083	missense variant	Oculocutaneous albinism	NC_000015.10:g.27966773A>T	ClinVar
OCA2	Q04671	p.Val519Ala	rs41446944	missense variant	-	NC_000015.10:g.27966770A>G	ESP,TOPMed,gnomAD
OCA2	Q04671	p.Val519Ala	rs41446944	missense variant	-	NC_000015.10:g.27966770A>G	UniProt,dbSNP
OCA2	Q04671	p.Val519Ala	VAR_032096	missense variant	-	NC_000015.10:g.27966770A>G	UniProt
OCA2	Q04671	p.Leu520Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27966768G>A	NCI-TCGA
OCA2	Q04671	p.Leu521Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27966764A>T	NCI-TCGA
OCA2	Q04671	p.Val522Phe	rs771694173	missense variant	-	NC_000015.10:g.27966762C>A	ExAC,gnomAD
OCA2	Q04671	p.Cys523Ser	rs778609798	missense variant	-	NC_000015.10:g.27966758C>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Phe524Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27966754A>T	NCI-TCGA
OCA2	Q04671	p.Pro525Leu	rs754777148	missense variant	-	NC_000015.10:g.27966752G>A	ExAC,gnomAD
OCA2	Q04671	p.Pro525Leu	rs754777148	missense variant	-	NC_000015.10:g.27966752G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Pro525Leu	RCV000520131	missense variant	-	NC_000015.10:g.27966752G>A	ClinVar
OCA2	Q04671	p.Leu526Phe	rs925564947	missense variant	-	NC_000015.10:g.27966750G>A	TOPMed
OCA2	Q04671	p.Leu527Arg	rs779850564	missense variant	-	NC_000015.10:g.27966746A>C	ExAC,gnomAD
OCA2	Q04671	p.Leu529Phe	rs756116239	missense variant	-	NC_000015.10:g.27966741G>A	ExAC
OCA2	Q04671	p.Leu530Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27966738G>A	NCI-TCGA
OCA2	Q04671	p.Tyr531Cys	rs143699063	missense variant	-	NC_000015.10:g.27966734T>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Trp532Arg	COSM6076987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27966732A>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Trp532Arg	rs767726046	missense variant	-	NC_000015.10:g.27966732A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Trp532Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27966730C>A	NCI-TCGA
OCA2	Q04671	p.Asn533Ser	rs1232501960	missense variant	-	NC_000015.10:g.27966728T>C	gnomAD
OCA2	Q04671	p.Arg534Gly	rs757516465	missense variant	-	NC_000015.10:g.27966726T>C	ExAC,gnomAD
OCA2	Q04671	p.Lys535Arg	rs910200898	missense variant	-	NC_000015.10:g.27966722T>C	gnomAD
OCA2	Q04671	p.Leu536Val	rs1394413927	missense variant	-	NC_000015.10:g.27966720G>C	gnomAD
OCA2	Q04671	p.Leu536Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27966720G>T	NCI-TCGA
OCA2	Q04671	p.Asn538Asp	rs1304719929	missense variant	-	NC_000015.10:g.27966714T>C	gnomAD
OCA2	Q04671	p.Lys539Glu	rs1435546245	missense variant	-	NC_000015.10:g.27966711T>C	gnomAD
OCA2	Q04671	p.Ser542Thr	rs763215605	missense variant	-	NC_000015.10:g.27966701C>G	ExAC
OCA2	Q04671	p.Ile544Thr	rs34141095	missense variant	-	NC_000015.10:g.27966695A>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile544Val	rs1172037395	missense variant	-	NC_000015.10:g.27966696T>C	gnomAD
OCA2	Q04671	p.Ile544Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27966695A>C	NCI-TCGA
OCA2	Q04671	p.Val545Phe	rs1381951592	missense variant	-	NC_000015.10:g.27966693C>A	gnomAD
OCA2	Q04671	p.Lys548Asn	COSM6076989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957728C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.His549Gln	COSM4859536	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957725G>T	NCI-TCGA Cosmic
OCA2	Q04671	p.His549Gln	VAR_006136	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Glu550Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27957724C>T	NCI-TCGA
OCA2	Q04671	p.Val553Leu	COSM2149067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957715C>G	NCI-TCGA Cosmic
OCA2	Q04671	p.Val553Ile	rs552418165	missense variant	-	NC_000015.10:g.27957715C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val553Ile	rs552418165	missense variant	-	NC_000015.10:g.27957715C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Trp554Arg	rs1384042381	missense variant	-	NC_000015.10:g.27957712A>G	TOPMed
OCA2	Q04671	p.Trp554Arg	RCV000504873	missense variant	Albinism	NC_000015.10:g.27957712A>G	ClinVar
OCA2	Q04671	p.Trp554Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27957710C>A	NCI-TCGA
OCA2	Q04671	p.Arg555His	rs768169106	missense variant	-	NC_000015.10:g.27957708C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Arg555Gly	rs141611162	missense variant	-	NC_000015.10:g.27957709G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg555His	rs768169106	missense variant	-	NC_000015.10:g.27957708C>T	ExAC,gnomAD
OCA2	Q04671	p.Arg555Cys	rs141611162	missense variant	-	NC_000015.10:g.27957709G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Thr557Ser	rs775106432	missense variant	-	NC_000015.10:g.27957702G>C	ExAC,gnomAD
OCA2	Q04671	p.Ala558Asp	COSM4872886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957699G>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg560His	rs35110389	missense variant	-	NC_000015.10:g.27957693C>T	NCI-TCGA
OCA2	Q04671	p.Arg560Cys	rs147905292	missense variant	-	NC_000015.10:g.27957694G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Arg560Gly	rs147905292	missense variant	-	NC_000015.10:g.27957694G>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg560His	rs35110389	missense variant	-	NC_000015.10:g.27957693C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg560Cys	rs147905292	missense variant	-	NC_000015.10:g.27957694G>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg560His	RCV000502777	missense variant	-	NC_000015.10:g.27957693C>T	ClinVar
OCA2	Q04671	p.Arg560Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27957693C>A	NCI-TCGA
OCA2	Q04671	p.Ser562Asn	rs1162229064	missense variant	-	NC_000015.10:g.27957687C>T	gnomAD
OCA2	Q04671	p.Ser562Gly	rs757332596	missense variant	-	NC_000015.10:g.27957688T>C	ExAC,gnomAD
OCA2	Q04671	p.Ser562Arg	rs757332596	missense variant	-	NC_000015.10:g.27957688T>G	ExAC,gnomAD
OCA2	Q04671	p.Pro563Arg	rs201904219	missense variant	-	NC_000015.10:g.27957684G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro563Leu	rs201904219	missense variant	-	NC_000015.10:g.27957684G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg566Cys	rs1192052771	missense variant	-	NC_000015.10:g.27957676G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg566His	COSM6030685	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957675C>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg566Cys	rs1192052771	missense variant	-	NC_000015.10:g.27957676G>A	TOPMed,gnomAD
OCA2	Q04671	p.Arg566Gly	rs1192052771	missense variant	-	NC_000015.10:g.27957676G>C	TOPMed,gnomAD
OCA2	Q04671	p.Glu567Ter	RCV000779153	nonsense	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27957673C>A	ClinVar
OCA2	Q04671	p.Glu567Lys	rs779086242	missense variant	-	NC_000015.10:g.27957673C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu567Asp	rs1214855230	missense variant	-	NC_000015.10:g.27957671C>G	gnomAD
OCA2	Q04671	p.Glu567Lys	rs779086242	missense variant	-	NC_000015.10:g.27957673C>T	NCI-TCGA
OCA2	Q04671	p.Thr569Arg	rs1468469473	missense variant	-	NC_000015.10:g.27957666G>C	gnomAD
OCA2	Q04671	p.Arg572Pro	rs754265614	missense variant	-	NC_000015.10:g.27957657C>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg572Cys	rs374415755	missense variant	-	NC_000015.10:g.27957658G>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg572His	rs754265614	missense variant	-	NC_000015.10:g.27957657C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg572Cys	rs374415755	missense variant	-	NC_000015.10:g.27957658G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Arg572Pro	rs754265614	missense variant	-	NC_000015.10:g.27957657C>G	NCI-TCGA
OCA2	Q04671	p.Arg572His	rs754265614	missense variant	-	NC_000015.10:g.27957657C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Arg573Cys	rs140556122	missense variant	-	NC_000015.10:g.27957655G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Arg573Cys	rs140556122	missense variant	-	NC_000015.10:g.27957655G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg573His	rs761217860	missense variant	-	NC_000015.10:g.27957654C>T	ExAC,gnomAD
OCA2	Q04671	p.Leu576Pro	rs1225525689	missense variant	-	NC_000015.10:g.27957645A>G	gnomAD
OCA2	Q04671	p.Gly577Val	COSM3500259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957642C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Val579Met	rs1462263661	missense variant	-	NC_000015.10:g.27957637C>T	TOPMed
OCA2	Q04671	p.Leu580Val	rs1324465727	missense variant	-	NC_000015.10:g.27957634G>C	gnomAD
OCA2	Q04671	p.Leu582Pro	rs1393692689	missense variant	-	NC_000015.10:g.27957627A>G	gnomAD
OCA2	Q04671	p.Glu583Lys	rs1160107047	missense variant	-	NC_000015.10:g.27957625C>T	TOPMed
OCA2	Q04671	p.Glu583Gln	rs1160107047	missense variant	-	NC_000015.10:g.27957625C>G	TOPMed
OCA2	Q04671	p.His584Asn	rs762447373	missense variant	-	NC_000015.10:g.27957622G>T	ExAC,gnomAD
OCA2	Q04671	p.Leu586Ile	COSM4832700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27957616G>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Leu586Phe	rs918693810	missense variant	-	NC_000015.10:g.27957616G>A	TOPMed
OCA2	Q04671	p.Ala587Thr	rs759401481	missense variant	-	NC_000015.10:g.27957613C>T	NCI-TCGA
OCA2	Q04671	p.Ala587Thr	rs759401481	missense variant	-	NC_000015.10:g.27957613C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg588Trp	rs150711896	missense variant	-	NC_000015.10:g.27957610G>A	NCI-TCGA
OCA2	Q04671	p.Arg588Pro	rs746969709	missense variant	-	NC_000015.10:g.27957609C>G	ExAC,gnomAD
OCA2	Q04671	p.Arg588Gln	rs746969709	missense variant	-	NC_000015.10:g.27957609C>T	ExAC,gnomAD
OCA2	Q04671	p.Arg588Trp	rs150711896	missense variant	-	NC_000015.10:g.27957610G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg589Trp	rs1251628913	missense variant	-	NC_000015.10:g.27957607T>A	gnomAD
OCA2	Q04671	p.Arg595Gly	rs1194285211	missense variant	-	NC_000015.10:g.27957589T>C	gnomAD
OCA2	Q04671	p.Arg595Ser	rs141159640	missense variant	-	NC_000015.10:g.27955215T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile597Thr	rs1161799204	missense variant	-	NC_000015.10:g.27955210A>G	gnomAD
OCA2	Q04671	p.Asn603Ile	rs1157360128	missense variant	-	NC_000015.10:g.27955192T>A	gnomAD
OCA2	Q04671	p.Asn603Asp	rs1407839994	missense variant	-	NC_000015.10:g.27955193T>C	gnomAD
OCA2	Q04671	p.Trp604Ter	rs752232419	stop gained	-	NC_000015.10:g.27955189C>T	ExAC,gnomAD
OCA2	Q04671	p.Glu605Gln	rs764677895	missense variant	-	NC_000015.10:g.27955187C>G	ExAC,gnomAD
OCA2	Q04671	p.Thr606Ile	rs1440067006	missense variant	-	NC_000015.10:g.27955183G>A	TOPMed,gnomAD
OCA2	Q04671	p.Asn607Asp	rs952383990	missense variant	-	NC_000015.10:g.27955181T>C	TOPMed
OCA2	Q04671	p.Gln609ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.27955176_27955177insT	NCI-TCGA
OCA2	Q04671	p.Glu610Ter	COSM4053786	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27955172C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Leu611Pro	rs766188851	missense variant	-	NC_000015.10:g.27955168A>G	ExAC,gnomAD
OCA2	Q04671	p.Leu611Val	rs753549210	missense variant	-	NC_000015.10:g.27955169G>C	ExAC,gnomAD
OCA2	Q04671	p.Lys613Arg	rs370760182	missense variant	-	NC_000015.10:g.27955162T>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Lys614Arg	rs772917829	missense variant	-	NC_000015.10:g.27955159T>C	ExAC,gnomAD
OCA2	Q04671	p.Lys614SerPheSerTerUnkUnk	COSM1372216	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27955159T>-	NCI-TCGA Cosmic
OCA2	Q04671	p.Lys614Glu	VAR_020631	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Lys614Asn	VAR_006138	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.His615Leu	rs1800414	missense variant	-	NC_000015.10:g.27951891T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.His615Arg	rs1800414	missense variant	-	NC_000015.10:g.27951891T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.His615Tyr	rs755768280	missense variant	-	NC_000015.10:g.27951892G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.His615Arg	RCV000259507	missense variant	Oculocutaneous albinism	NC_000015.10:g.27951891T>C	ClinVar
OCA2	Q04671	p.His615AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.27955158_27955159insT	NCI-TCGA
OCA2	Q04671	p.His615Arg	RCV000245098	missense variant	-	NC_000015.10:g.27951891T>C	ClinVar
OCA2	Q04671	p.Arg616Gly	rs199980244	missense variant	-	NC_000015.10:g.27951889T>C	ExAC,gnomAD
OCA2	Q04671	p.Arg616Ser	rs764077360	missense variant	-	NC_000015.10:g.27951887C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile617Leu	rs763016773	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27951886T>A	UniProt,dbSNP
OCA2	Q04671	p.Ile617Leu	VAR_020632	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27951886T>A	UniProt
OCA2	Q04671	p.Ile617Leu	rs763016773	missense variant	-	NC_000015.10:g.27951886T>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile617Thr	rs775588367	missense variant	-	NC_000015.10:g.27951885A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly620Arg	rs746102630	missense variant	-	NC_000015.10:g.27951877C>T	ExAC,gnomAD
OCA2	Q04671	p.Leu623Pro	rs1284013503	missense variant	-	NC_000015.10:g.27951867A>G	TOPMed,gnomAD
OCA2	Q04671	p.Ala624Thr	rs373739951	missense variant	-	NC_000015.10:g.27951865C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala624Val	rs1186490350	missense variant	-	NC_000015.10:g.27951864G>A	gnomAD
OCA2	Q04671	p.Lys625Asn	rs1455447337	missense variant	-	NC_000015.10:g.27951860T>G	TOPMed,gnomAD
OCA2	Q04671	p.Lys625Asn	RCV000732984	missense variant	-	NC_000015.10:g.27951860T>G	ClinVar
OCA2	Q04671	p.Thr628Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27951853T>C	NCI-TCGA
OCA2	Q04671	p.Leu630Val	COSM4858558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27951847A>C	NCI-TCGA Cosmic
OCA2	Q04671	p.Leu630Trp	rs748782525	missense variant	-	NC_000015.10:g.27951846A>C	ExAC,gnomAD
OCA2	Q04671	p.Leu630Met	rs1204760169	missense variant	-	NC_000015.10:g.27951847A>T	TOPMed,gnomAD
OCA2	Q04671	p.Gly631Arg	RCV000501001	missense variant	-	NC_000015.10:g.27951844C>T	ClinVar
OCA2	Q04671	p.Gly631Ala	rs946624305	missense variant	-	NC_000015.10:g.27951843C>G	TOPMed,gnomAD
OCA2	Q04671	p.Gly631Arg	rs1555440003	missense variant	-	NC_000015.10:g.27951844C>T	-
OCA2	Q04671	p.Val633Ile	rs1372200062	missense variant	-	NC_000015.10:g.27951838C>T	TOPMed,gnomAD
OCA2	Q04671	p.Ile634Thr	rs200692258	missense variant	-	NC_000015.10:g.27951834A>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile634Phe	COSM6076991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27951835T>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Ile634Asn	rs200692258	missense variant	-	NC_000015.10:g.27951834A>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Phe635Leu	rs554843849	missense variant	-	NC_000015.10:g.27951832A>G	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Met636Leu	rs750047317	missense variant	-	NC_000015.10:g.27951829T>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met636Val	rs750047317	missense variant	-	NC_000015.10:g.27951829T>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Phe637Leu	rs1298872216	missense variant	-	NC_000015.10:g.27951826A>G	gnomAD
OCA2	Q04671	p.Leu639Arg	rs960692654	missense variant	-	NC_000015.10:g.27951819A>C	TOPMed
OCA2	Q04671	p.Asn640Ser	rs1035017790	missense variant	-	NC_000015.10:g.27951816T>C	TOPMed
OCA2	Q04671	p.Ser641Leu	RCV000755090	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27951813G>A	ClinVar
OCA2	Q04671	p.Ser641Leu	rs868238523	missense variant	-	NC_000015.10:g.27951813G>A	gnomAD
OCA2	Q04671	p.Ser641Leu	rs868238523	missense variant	-	NC_000015.10:g.27951813G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Pro644Leu	COSM3500254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27951804G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Gly645Asp	rs751422581	missense variant	-	NC_000015.10:g.27951801C>T	ExAC,gnomAD
OCA2	Q04671	p.Gly645Asp	rs751422581	missense variant	-	NC_000015.10:g.27951801C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Ile646Val	rs1252019812	missense variant	-	NC_000015.10:g.27951799T>C	TOPMed,gnomAD
OCA2	Q04671	p.Asp649Val	rs762928598	missense variant	-	NC_000015.10:g.27951789T>A	ExAC,gnomAD
OCA2	Q04671	p.Leu650Phe	rs1480043322	missense variant	-	NC_000015.10:g.27951787G>A	gnomAD
OCA2	Q04671	p.Trp652Arg	RCV000293261	missense variant	-	NC_000015.10:g.27926252A>T	ClinVar
OCA2	Q04671	p.Trp652Arg	rs886043514	missense variant	-	NC_000015.10:g.27926252A>T	gnomAD
OCA2	Q04671	p.Ala654Ter	RCV000001008	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926246del	ClinVar
OCA2	Q04671	p.Ala654Pro	rs778788354	missense variant	-	NC_000015.10:g.27926246C>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala654Val	rs1182502204	missense variant	-	NC_000015.10:g.27926245G>A	TOPMed
OCA2	Q04671	p.Ala654Thr	rs778788354	missense variant	-	NC_000015.10:g.27926246C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala654Thr	rs778788354	missense variant	-	NC_000015.10:g.27926246C>T	NCI-TCGA
OCA2	Q04671	p.Ile655Asn	rs186953916	missense variant	-	NC_000015.10:g.27926242A>T	1000Genomes,ExAC,gnomAD
OCA2	Q04671	p.Gly657Arg	rs879253729	missense variant	-	NC_000015.10:g.27926237C>G	-
OCA2	Q04671	p.Gly657Asp	rs957981838	missense variant	-	NC_000015.10:g.27926236C>T	TOPMed
OCA2	Q04671	p.Gly657Ala	rs957981838	missense variant	-	NC_000015.10:g.27926236C>G	TOPMed
OCA2	Q04671	p.Gly657Arg	RCV000234793	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926237C>G	ClinVar
OCA2	Q04671	p.Ala658Val	rs749249918	missense variant	-	NC_000015.10:g.27926233G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala658Gly	rs749249918	missense variant	-	NC_000015.10:g.27926233G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Trp660Cys	RCV000761902	missense variant	-	NC_000015.10:g.27926226C>A	ClinVar
OCA2	Q04671	p.Trp660Ser	rs1429912526	missense variant	-	NC_000015.10:g.27926227C>G	TOPMed
OCA2	Q04671	p.Leu664Phe	rs1441627192	missense variant	-	NC_000015.10:g.27926214T>G	gnomAD
OCA2	Q04671	p.Asp666Glu	rs1461245685	missense variant	-	NC_000015.10:g.27926208A>C	TOPMed
OCA2	Q04671	p.Ile667Phe	rs779938295	missense variant	-	NC_000015.10:g.27926207T>A	ExAC,gnomAD
OCA2	Q04671	p.His668Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27926202A>T	NCI-TCGA
OCA2	Q04671	p.Asp669Tyr	rs756248244	missense variant	-	NC_000015.10:g.27926201C>A	ExAC,gnomAD
OCA2	Q04671	p.Asp669Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27926201C>T	NCI-TCGA
OCA2	Q04671	p.Glu671Val	RCV000194788	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926194T>A	ClinVar
OCA2	Q04671	p.Glu671Val	rs797045838	missense variant	-	NC_000015.10:g.27926194T>A	gnomAD
OCA2	Q04671	p.Glu671Gly	rs797045838	missense variant	-	NC_000015.10:g.27926194T>C	gnomAD
OCA2	Q04671	p.Ile673Val	rs1428151996	missense variant	-	NC_000015.10:g.27926189T>C	gnomAD
OCA2	Q04671	p.Leu674Val	RCV000175395	missense variant	-	NC_000015.10:g.27926186G>C	ClinVar
OCA2	Q04671	p.Leu674Val	rs371412500	missense variant	-	NC_000015.10:g.27926186G>C	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu674Ile	rs371412500	missense variant	-	NC_000015.10:g.27926186G>T	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg676Gly	COSM6076993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27926180T>C	NCI-TCGA Cosmic
OCA2	Q04671	p.Glu678Lys	VAR_020633	Missense	-	-	UniProt
OCA2	Q04671	p.Trp679Cys	rs121918169	missense variant	-	NC_000015.10:g.27926169C>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Trp679Cys	rs121918169	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27926169C>G	UniProt,dbSNP
OCA2	Q04671	p.Trp679Cys	VAR_020634	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27926169C>G	UniProt
OCA2	Q04671	p.Trp679Arg	rs751822606	missense variant	-	NC_000015.10:g.27926171A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Trp679Cys	RCV000001011	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926169C>G	ClinVar
OCA2	Q04671	p.Leu682Pro	rs1284426737	missense variant	-	NC_000015.10:g.27926161A>G	TOPMed
OCA2	Q04671	p.Leu683Pro	rs765794380	missense variant	-	NC_000015.10:g.27926158A>G	ExAC,gnomAD
OCA2	Q04671	p.Phe684Ile	rs760177484	missense variant	-	NC_000015.10:g.27926156A>T	ExAC
OCA2	Q04671	p.Phe684Cys	rs772754008	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27926155A>C	UniProt,dbSNP
OCA2	Q04671	p.Phe684Cys	VAR_072601	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27926155A>C	UniProt
OCA2	Q04671	p.Phe684Cys	rs772754008	missense variant	-	NC_000015.10:g.27926155A>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Phe684Ser	rs772754008	missense variant	-	NC_000015.10:g.27926155A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Phe685Ter	RCV000496043	frameshift	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27926156del	ClinVar
OCA2	Q04671	p.Phe685LeuPheSerTerUnk	rs772595552	frameshift	-	NC_000015.10:g.27926151A>-	NCI-TCGA
OCA2	Q04671	p.Ala686Glu	rs868252845	missense variant	-	NC_000015.10:g.27926149G>T	gnomAD
OCA2	Q04671	p.Ala686Val	rs868252845	missense variant	-	NC_000015.10:g.27926149G>A	gnomAD
OCA2	Q04671	p.Ala686CysPheSerTerUnkUnk	rs775872950	frameshift	-	NC_000015.10:g.27926150_27926151insA	NCI-TCGA
OCA2	Q04671	p.Ala687Val	rs773980859	missense variant	-	NC_000015.10:g.27926146G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala687Val	rs773980859	missense variant	-	NC_000015.10:g.27926146G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Ala687Thr	rs1344265643	missense variant	-	NC_000015.10:g.27926147C>T	gnomAD
OCA2	Q04671	p.Ala687Glu	rs773980859	missense variant	-	NC_000015.10:g.27926146G>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu688Pro	rs749087766	missense variant	-	NC_000015.10:g.27926143A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu688Phe	VAR_020635	Missense	-	-	UniProt
OCA2	Q04671	p.Val690Ala	rs1267509582	missense variant	-	NC_000015.10:g.27926137A>G	TOPMed
OCA2	Q04671	p.Met692Leu	rs1225147656	missense variant	-	NC_000015.10:g.27926132T>A	TOPMed
OCA2	Q04671	p.Met692Val	rs1225147656	missense variant	-	NC_000015.10:g.27926132T>C	TOPMed
OCA2	Q04671	p.Met692Ile	rs1377631663	missense variant	-	NC_000015.10:g.27926130C>T	gnomAD
OCA2	Q04671	p.Glu693Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27926128T>C	NCI-TCGA
OCA2	Q04671	p.Ala694Thr	rs745803719	missense variant	-	NC_000015.10:g.27871922C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala694Thr	RCV000299479	missense variant	Oculocutaneous albinism	NC_000015.10:g.27871922C>T	ClinVar
OCA2	Q04671	p.His697Tyr	rs771063630	missense variant	-	NC_000015.10:g.27871913G>A	ExAC,gnomAD
OCA2	Q04671	p.His699Asn	rs150391476	missense variant	-	NC_000015.10:g.27871907G>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.His699Tyr	rs150391476	missense variant	-	NC_000015.10:g.27871907G>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu700Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27871903A>G	NCI-TCGA
OCA2	Q04671	p.Glu702Ter	COSM171645	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27871898C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Glu702Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27871898C>T	NCI-TCGA
OCA2	Q04671	p.Tyr703Cys	rs778021996	missense variant	-	NC_000015.10:g.27871894T>C	ExAC,gnomAD
OCA2	Q04671	p.Val704Ala	rs1400493644	missense variant	-	NC_000015.10:g.27871891A>G	TOPMed
OCA2	Q04671	p.Val704Phe	rs758611210	missense variant	-	NC_000015.10:g.27871892C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly705Glu	rs189633442	missense variant	-	NC_000015.10:g.27871888C>T	1000Genomes
OCA2	Q04671	p.Glu706Lys	rs1416576052	missense variant	-	NC_000015.10:g.27871886C>T	TOPMed
OCA2	Q04671	p.Glu706Gly	rs1437129627	missense variant	-	NC_000015.10:g.27871885T>C	gnomAD
OCA2	Q04671	p.Glu706Gly	rs1437129627	missense variant	-	NC_000015.10:g.27871885T>C	NCI-TCGA Cosmic
OCA2	Q04671	p.Thr708Asn	rs1335779460	missense variant	-	NC_000015.10:g.27871879G>T	TOPMed
OCA2	Q04671	p.Thr708Asn	rs1335779460	missense variant	-	NC_000015.10:g.27871879G>T	NCI-TCGA
OCA2	Q04671	p.Thr708Ala	rs1270742157	missense variant	-	NC_000015.10:g.27871880T>C	gnomAD
OCA2	Q04671	p.Ala709Val	rs753088699	missense variant	-	NC_000015.10:g.27871876G>A	ExAC,gnomAD
OCA2	Q04671	p.Lys713Asn	rs1312908957	missense variant	-	NC_000015.10:g.27871863C>G	gnomAD
OCA2	Q04671	p.Met714Thr	rs1190078338	missense variant	-	NC_000015.10:g.27871257A>G	TOPMed,gnomAD
OCA2	Q04671	p.Glu718Asp	rs752419245	missense variant	-	NC_000015.10:g.27871244C>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gln719Lys	rs1205432942	missense variant	-	NC_000015.10:g.27871243G>T	gnomAD
OCA2	Q04671	p.Arg720His	rs776631782	missense variant	-	NC_000015.10:g.27871239C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg720Cys	rs141545475	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871240G>A	UniProt,dbSNP
OCA2	Q04671	p.Arg720Cys	VAR_020636	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871240G>A	UniProt
OCA2	Q04671	p.Arg720Cys	rs141545475	missense variant	-	NC_000015.10:g.27871240G>A	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Arg720Cys	rs141545475	missense variant	-	NC_000015.10:g.27871240G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Ile722Thr	RCV000251137	missense variant	-	NC_000015.10:g.27871233A>G	ClinVar
OCA2	Q04671	p.Ile722Thr	rs1800417	missense variant	-	NC_000015.10:g.27871233A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala723Ser	rs1366662513	missense variant	-	NC_000015.10:g.27871231C>A	TOPMed
OCA2	Q04671	p.Ala724Thr	rs772070952	missense variant	-	NC_000015.10:g.27871228C>T	ExAC,gnomAD
OCA2	Q04671	p.Ala724Thr	rs772070952	missense variant	-	NC_000015.10:g.27871228C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Ala724Pro	VAR_006143	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Ile725Thr	rs1409507253	missense variant	-	NC_000015.10:g.27871224A>G	TOPMed,gnomAD
OCA2	Q04671	p.Val726Ter	RCV000592782	frameshift	-	NC_000015.10:g.27871219_27871223del	ClinVar
OCA2	Q04671	p.Trp730Ter	rs906306917	stop gained	-	NC_000015.10:g.27871208C>T	TOPMed
OCA2	Q04671	p.Ala733Pro	rs1378080763	missense variant	-	NC_000015.10:g.27871201C>G	TOPMed,gnomAD
OCA2	Q04671	p.Leu734Arg	rs768934658	missense variant	-	NC_000015.10:g.27871197A>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu734Arg	RCV000779152	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27871197A>C	ClinVar
OCA2	Q04671	p.Ala735Val	rs972353646	missense variant	-	NC_000015.10:g.27871194G>A	TOPMed,gnomAD
OCA2	Q04671	p.Ser736Leu	RCV000176150	missense variant	-	NC_000015.10:g.27871191G>A	ClinVar
OCA2	Q04671	p.Ser736Leu	RCV000724171	missense variant	-	NC_000015.10:g.27871191G>A	ClinVar
OCA2	Q04671	p.Ser736Leu	rs780296175	missense variant	-	NC_000015.10:g.27871191G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ser736Leu	rs780296175	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871191G>A	UniProt,dbSNP
OCA2	Q04671	p.Ser736Leu	VAR_006144	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871191G>A	UniProt
OCA2	Q04671	p.Ser736Leu	rs780296175	missense variant	-	NC_000015.10:g.27871191G>A	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Leu738Val	rs1250026416	missense variant	-	NC_000015.10:g.27871186G>C	gnomAD
OCA2	Q04671	p.Asp740Gly	rs1483791469	missense variant	-	NC_000015.10:g.27871179T>C	gnomAD
OCA2	Q04671	p.Asp740Tyr	rs1213404912	missense variant	-	NC_000015.10:g.27871180C>A	gnomAD
OCA2	Q04671	p.Asn741His	rs1255853772	missense variant	-	NC_000015.10:g.27871177T>G	TOPMed,gnomAD
OCA2	Q04671	p.Ile742Asn	rs184326694	missense variant	-	NC_000015.10:g.27871173A>T	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ile742Met	rs377210972	missense variant	-	NC_000015.10:g.27871172G>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro743Leu	rs121918167	missense variant	-	NC_000015.10:g.27871170G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro743Leu	rs121918167	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871170G>A	UniProt,dbSNP
OCA2	Q04671	p.Pro743Leu	VAR_006145	missense variant	Albinism, oculocutaneous, 2 (OCA2)	NC_000015.10:g.27871170G>A	UniProt
OCA2	Q04671	p.Pro743Ser	rs1227989474	missense variant	-	NC_000015.10:g.27871171G>A	gnomAD
OCA2	Q04671	p.Pro743Leu	RCV000755092	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27871170G>A	ClinVar
OCA2	Q04671	p.Phe744Ile	rs1401716446	missense variant	-	NC_000015.10:g.27871168A>T	TOPMed
OCA2	Q04671	p.Thr745Ala	rs150990900	missense variant	-	NC_000015.10:g.27871165T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala746Val	rs1358155377	missense variant	-	NC_000015.10:g.27871161G>A	TOPMed
OCA2	Q04671	p.Ala746Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27871162C>T	NCI-TCGA
OCA2	Q04671	p.Thr747Ile	rs760615438	missense variant	-	NC_000015.10:g.27871158G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met748Leu	rs767532456	missense variant	-	NC_000015.10:g.27871156T>A	ExAC,gnomAD
OCA2	Q04671	p.Met748Val	rs767532456	missense variant	-	NC_000015.10:g.27871156T>C	ExAC,gnomAD
OCA2	Q04671	p.Pro750Ser	COSM3886806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851472G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Pro750His	rs1013445454	missense variant	-	NC_000015.10:g.27851471G>T	gnomAD
OCA2	Q04671	p.Val751Leu	rs780969715	missense variant	-	NC_000015.10:g.27851469C>A	ExAC,gnomAD
OCA2	Q04671	p.Val751Met	rs780969715	missense variant	-	NC_000015.10:g.27851469C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Val751Met	rs780969715	missense variant	-	NC_000015.10:g.27851469C>T	ExAC,gnomAD
OCA2	Q04671	p.Leu752Ile	COSM6141949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851466G>T	NCI-TCGA Cosmic
OCA2	Q04671	p.Asn754Lys	COSM4053782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851458G>C	NCI-TCGA Cosmic
OCA2	Q04671	p.Leu755Arg	COSM960073	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851456A>C	NCI-TCGA Cosmic
OCA2	Q04671	p.Leu755Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27851457G>T	NCI-TCGA
OCA2	Q04671	p.His757Gln	rs148894313	missense variant	-	NC_000015.10:g.27851449G>C	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.His757Tyr	rs1389510425	missense variant	-	NC_000015.10:g.27851451G>A	gnomAD
OCA2	Q04671	p.His757Arg	rs751518755	missense variant	-	NC_000015.10:g.27851450T>C	ExAC,gnomAD
OCA2	Q04671	p.Asp758Asn	rs758377459	missense variant	-	NC_000015.10:g.27851448C>T	NCI-TCGA
OCA2	Q04671	p.Asp758Asn	rs758377459	missense variant	-	NC_000015.10:g.27851448C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asp758Val	rs752888326	missense variant	-	NC_000015.10:g.27851447T>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asp758Gly	rs752888326	missense variant	-	NC_000015.10:g.27851447T>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Asp758Gly	RCV000176256	missense variant	-	NC_000015.10:g.27851447T>C	ClinVar
OCA2	Q04671	p.Asp758Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27851448C>A	NCI-TCGA
OCA2	Q04671	p.Pro759Ser	rs765361091	missense variant	-	NC_000015.10:g.27851445G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Glu760Val	rs759815955	missense variant	-	NC_000015.10:g.27851441T>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val761Asp	rs143116542	missense variant	-	NC_000015.10:g.27851438A>T	ESP,ExAC,gnomAD
OCA2	Q04671	p.Leu763Met	rs139837760	missense variant	-	NC_000015.10:g.27851433G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro764Leu	rs756546300	missense variant	-	NC_000015.10:g.27851429G>A	gnomAD
OCA2	Q04671	p.Pro764Ala	rs772775471	missense variant	-	NC_000015.10:g.27851430G>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro764Ser	rs772775471	missense variant	-	NC_000015.10:g.27851430G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala765Thr	rs145968118	missense variant	-	NC_000015.10:g.27851427C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala765Thr	RCV000176257	missense variant	-	NC_000015.10:g.27851427C>T	ClinVar
OCA2	Q04671	p.Pro766Ser	rs144064082	missense variant	-	NC_000015.10:g.27851424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro766Thr	rs144064082	missense variant	-	NC_000015.10:g.27851424G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro766Ala	rs144064082	missense variant	-	NC_000015.10:g.27851424G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro766Leu	rs563235254	missense variant	-	NC_000015.10:g.27851423G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Pro767Thr	rs1420653922	missense variant	-	NC_000015.10:g.27851421G>T	TOPMed
OCA2	Q04671	p.Pro767Leu	rs577826548	missense variant	-	NC_000015.10:g.27851420G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Leu768Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27851418G>T	NCI-TCGA
OCA2	Q04671	p.Met769Val	rs752658965	missense variant	-	NC_000015.10:g.27851415T>C	ExAC,gnomAD
OCA2	Q04671	p.Met769Thr	rs374578342	missense variant	-	NC_000015.10:g.27851414A>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Tyr770Ter	rs755111887	stop gained	-	NC_000015.10:g.27851410A>C	ExAC,gnomAD
OCA2	Q04671	p.Tyr770Cys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27851411T>C	NCI-TCGA
OCA2	Q04671	p.Ala771Val	COSM4384833	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27851408G>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Ala771Thr	rs754093708	missense variant	-	NC_000015.10:g.27851409C>T	ExAC,gnomAD
OCA2	Q04671	p.Ala771Ser	rs754093708	missense variant	-	NC_000015.10:g.27851409C>A	ExAC,gnomAD
OCA2	Q04671	p.Leu772Val	rs773774001	missense variant	-	NC_000015.10:g.27851406G>C	ExAC,gnomAD
OCA2	Q04671	p.Ala773Thr	rs1184589806	missense variant	-	NC_000015.10:g.27851403C>T	gnomAD
OCA2	Q04671	p.Ala773Gly	rs1473065693	missense variant	-	NC_000015.10:g.27851402G>C	gnomAD
OCA2	Q04671	p.Phe774Leu	rs762388937	missense variant	-	NC_000015.10:g.27851398G>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly775Asp	rs987780496	missense variant	-	NC_000015.10:g.27851396C>T	TOPMed
OCA2	Q04671	p.Gly775Ser	rs774822330	missense variant	-	NC_000015.10:g.27851397C>T	ExAC,gnomAD
OCA2	Q04671	p.Gly775Arg	VAR_043701	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Ala776Val	rs769370108	missense variant	-	NC_000015.10:g.27851393G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Cys777Tyr	rs776814755	missense variant	-	NC_000015.10:g.27851390C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Cys777Tyr	RCV000762937	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27851390C>T	ClinVar
OCA2	Q04671	p.Cys777Tyr	RCV000493655	missense variant	-	NC_000015.10:g.27851390C>T	ClinVar
OCA2	Q04671	p.Gly780Asp	RCV000505060	missense variant	Albinism	NC_000015.10:g.27845052C>T	ClinVar
OCA2	Q04671	p.Gly780Asp	rs141949212	missense variant	-	NC_000015.10:g.27845052C>T	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly780Asp	RCV000500809	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27845052C>T	ClinVar
OCA2	Q04671	p.Gly780Asp	RCV000624810	missense variant	Inborn genetic diseases	NC_000015.10:g.27845052C>T	ClinVar
OCA2	Q04671	p.Gly780Asp	RCV000762936	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27845052C>T	ClinVar
OCA2	Q04671	p.Asn781Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27845050T>A	NCI-TCGA
OCA2	Q04671	p.Gly782Arg	RCV000193498	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27845047C>T	ClinVar
OCA2	Q04671	p.Gly782Arg	rs797045839	missense variant	-	NC_000015.10:g.27845047C>T	TOPMed,gnomAD
OCA2	Q04671	p.Leu784Pro	rs1407345721	missense variant	-	NC_000015.10:g.27845040A>G	gnomAD
OCA2	Q04671	p.Leu784Gln	rs1407345721	missense variant	-	NC_000015.10:g.27845040A>T	gnomAD
OCA2	Q04671	p.Ile785Thr	rs148153776	missense variant	-	NC_000015.10:g.27845037A>G	ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala787Val	RCV000755094	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27845031G>A	ClinVar
OCA2	Q04671	p.Ala787Glu	RCV000755093	missense variant	Nonsyndromic Oculocutaneous Albinism	NC_000015.10:g.27845031G>T	ClinVar
OCA2	Q04671	p.Ala787Thr	rs142988897	missense variant	-	NC_000015.10:g.27845032C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Ala787Val	rs200457227	missense variant	-	NC_000015.10:g.27845031G>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala787Thr	rs142988897	missense variant	-	NC_000015.10:g.27845032C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala787Val	RCV000785611	missense variant	Tyrosinase-positive oculocutaneous albinism (OCA2)	NC_000015.10:g.27845031G>A	ClinVar
OCA2	Q04671	p.Ser788Leu	rs147736385	missense variant	-	NC_000015.10:g.27845028G>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala789Thr	rs377517986	missense variant	-	NC_000015.10:g.27845026C>T	ESP,ExAC,TOPMed
OCA2	Q04671	p.Asn790His	rs1323104489	missense variant	-	NC_000015.10:g.27845023T>G	gnomAD
OCA2	Q04671	p.Val791Ala	rs1357741348	missense variant	-	NC_000015.10:g.27845019A>G	gnomAD
OCA2	Q04671	p.Val791Phe	rs183743105	missense variant	-	NC_000015.10:g.27845020C>A	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val791Ile	rs183743105	missense variant	-	NC_000015.10:g.27845020C>T	1000Genomes,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val792Met	rs768651740	missense variant	-	NC_000015.10:g.27845017C>T	NCI-TCGA
OCA2	Q04671	p.Val792Leu	rs768651740	missense variant	-	NC_000015.10:g.27845017C>A	ExAC,gnomAD
OCA2	Q04671	p.Val792Met	rs768651740	missense variant	-	NC_000015.10:g.27845017C>T	ExAC,gnomAD
OCA2	Q04671	p.Cys793Tyr	rs1026811783	missense variant	-	NC_000015.10:g.27845013C>T	TOPMed
OCA2	Q04671	p.Ala794Ser	rs755459907	missense variant	-	NC_000015.10:g.27845011C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Ala794Thr	rs755459907	missense variant	-	NC_000015.10:g.27845011C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Gly795Trp	COSM6076994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27845008C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Gly795Arg	VAR_020637	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Ile796Met	rs775663159	missense variant	-	NC_000015.10:g.27845003A>C	ExAC,gnomAD
OCA2	Q04671	p.Ala797Ser	rs769973912	missense variant	-	NC_000015.10:g.27845002C>A	ExAC,gnomAD
OCA2	Q04671	p.Glu798Ter	COSM4709159	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27844999C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Gln799Ter	rs781471173	stop gained	-	NC_000015.10:g.27844996G>A	ExAC,gnomAD
OCA2	Q04671	p.Gln799Lys	rs781471173	missense variant	-	NC_000015.10:g.27844996G>T	ExAC,gnomAD
OCA2	Q04671	p.Gln799His	VAR_020638	Missense	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.His800Arg	rs1383213839	missense variant	-	NC_000015.10:g.27844992T>C	NCI-TCGA
OCA2	Q04671	p.His800Arg	rs1383213839	missense variant	-	NC_000015.10:g.27844992T>C	gnomAD
OCA2	Q04671	p.Phe804Leu	COSM960072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27844981A>G	NCI-TCGA Cosmic
OCA2	Q04671	p.Phe804Leu	rs747340554	missense variant	-	NC_000015.10:g.27844979G>C	ExAC,gnomAD
OCA2	Q04671	p.Ser805Phe	rs758859062	missense variant	-	NC_000015.10:g.27844977G>A	ExAC,gnomAD
OCA2	Q04671	p.Ser805Thr	rs778004507	missense variant	-	NC_000015.10:g.27844978A>T	ExAC,gnomAD
OCA2	Q04671	p.Met807Thr	rs1220453744	missense variant	-	NC_000015.10:g.27844971A>G	TOPMed,gnomAD
OCA2	Q04671	p.Met807Val	rs1246857246	missense variant	-	NC_000015.10:g.27844972T>C	gnomAD
OCA2	Q04671	p.Met807Lys	rs1220453744	missense variant	-	NC_000015.10:g.27844971A>T	TOPMed,gnomAD
OCA2	Q04671	p.Glu808Ter	COSM960071	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27844969C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Phe809Leu	RCV000487105	missense variant	-	NC_000015.10:g.27844966A>G	ClinVar
OCA2	Q04671	p.Phe809Ile	RCV000176361	missense variant	-	NC_000015.10:g.27844966A>T	ClinVar
OCA2	Q04671	p.Phe809Ile	rs765779905	missense variant	-	NC_000015.10:g.27844966A>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Phe809Leu	rs765779905	missense variant	-	NC_000015.10:g.27844966A>G	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Phe810SerPheSerTerUnk	COSM1372212	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27844962A>-	NCI-TCGA Cosmic
OCA2	Q04671	p.Arg811Lys	rs749961662	missense variant	-	NC_000015.10:g.27844959C>T	ExAC,gnomAD
OCA2	Q04671	p.Arg811Ser	rs779382711	missense variant	-	NC_000015.10:g.27755472C>A	ExAC,gnomAD
OCA2	Q04671	p.Arg811Gly	rs1342026238	missense variant	-	NC_000015.10:g.27844960T>C	gnomAD
OCA2	Q04671	p.Arg811Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27844959C>A	NCI-TCGA
OCA2	Q04671	p.Gly813AlaPheSerTerUnk	COSM4950912	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.27755467C>-	NCI-TCGA Cosmic
OCA2	Q04671	p.Gly813Ser	rs377766646	missense variant	-	NC_000015.10:g.27755468C>T	ESP,ExAC,gnomAD
OCA2	Q04671	p.Phe814Leu	COSM5747618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27755465A>G	NCI-TCGA Cosmic
OCA2	Q04671	p.Pro815Gln	rs749886695	missense variant	-	NC_000015.10:g.27755461G>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met816Leu	COSM700303	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27755459T>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Met816Val	rs766970716	missense variant	-	NC_000015.10:g.27755459T>C	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Met817Ile	COSM6141952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.27755454C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Met817Val	rs1174702147	missense variant	-	NC_000015.10:g.27755456T>C	gnomAD
OCA2	Q04671	p.Met817Ile	rs1267967087	missense variant	-	NC_000015.10:g.27755454C>T	TOPMed
OCA2	Q04671	p.Val819Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27755450C>T	NCI-TCGA
OCA2	Q04671	p.Ser820Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27755447A>G	NCI-TCGA
OCA2	Q04671	p.Cys821Tyr	rs756885633	missense variant	-	NC_000015.10:g.27755443C>T	ExAC,gnomAD
OCA2	Q04671	p.Val823Ala	rs1413642291	missense variant	-	NC_000015.10:g.27755437A>G	gnomAD
OCA2	Q04671	p.Val823Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.27755438C>A	NCI-TCGA
OCA2	Q04671	p.Gly824Val	rs1182457892	missense variant	-	NC_000015.10:g.27755434C>A	gnomAD
OCA2	Q04671	p.Met825Ile	rs1184076304	missense variant	-	NC_000015.10:g.27755430C>T	gnomAD
OCA2	Q04671	p.Met825Lys	rs1477878331	missense variant	-	NC_000015.10:g.27755431A>T	TOPMed
OCA2	Q04671	p.Met825Leu	rs763881975	missense variant	-	NC_000015.10:g.27755432T>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Cys826Gly	rs1483841537	missense variant	-	NC_000015.10:g.27755429A>C	gnomAD
OCA2	Q04671	p.Tyr827His	rs1255943449	missense variant	-	NC_000015.10:g.27755426A>G	TOPMed,gnomAD
OCA2	Q04671	p.Leu828Phe	rs1201787687	missense variant	-	NC_000015.10:g.27755423G>A	gnomAD
OCA2	Q04671	p.Ala831Val	rs1331325072	missense variant	-	NC_000015.10:g.27755413G>A	gnomAD
OCA2	Q04671	p.Ala831Pro	rs183101063	missense variant	-	NC_000015.10:g.27755414C>G	1000Genomes
OCA2	Q04671	p.His832Arg	rs762838711	missense variant	-	NC_000015.10:g.27755410T>C	ExAC,gnomAD
OCA2	Q04671	p.His832Tyr	rs200918662	missense variant	-	NC_000015.10:g.27755411G>A	TOPMed
OCA2	Q04671	p.His832Pro	rs762838711	missense variant	-	NC_000015.10:g.27755410T>G	ExAC,gnomAD
OCA2	Q04671	p.Val833Met	rs200396611	missense variant	-	NC_000015.10:g.27755408C>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val833Leu	rs200396611	missense variant	-	NC_000015.10:g.27755408C>A	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val833Met	rs200396611	missense variant	-	NC_000015.10:g.27755408C>T	NCI-TCGA,NCI-TCGA Cosmic
OCA2	Q04671	p.Val833Leu	rs200396611	missense variant	-	NC_000015.10:g.27755408C>A	NCI-TCGA Cosmic
OCA2	Q04671	p.Val833del	VAR_021682	inframe_deletion	Albinism, oculocutaneous, 2 (OCA2) [MIM:203200]	-	UniProt
OCA2	Q04671	p.Val834Met	rs34704703	missense variant	-	NC_000015.10:g.27755405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val834Glu	rs759396151	missense variant	-	NC_000015.10:g.27755404A>T	ExAC,TOPMed,gnomAD
OCA2	Q04671	p.Val835Gly	rs1232757925	missense variant	-	NC_000015.10:g.27755401A>C	TOPMed
OCA2	Q04671	p.Gly836Arg	rs770934507	missense variant	-	NC_000015.10:g.27755399C>T	ExAC,gnomAD
OCA2	Q04671	p.Gly836Ter	rs770934507	stop gained	-	NC_000015.10:g.27755399C>A	ExAC,gnomAD
OCA2	Q04671	p.Trp837Ter	rs760853582	stop gained	-	NC_000015.10:g.27755395C>T	ExAC,gnomAD
OCA2	Q04671	p.Asn838His	rs1337308789	missense variant	-	NC_000015.10:g.27755393T>G	TOPMed
ACVR1	Q04771	p.Val2Ile	rs1280889930	missense variant	-	NC_000002.12:g.157799490C>T	gnomAD
ACVR1	Q04771	p.Gly4Glu	rs1203606345	missense variant	-	NC_000002.12:g.157799483C>T	gnomAD
ACVR1	Q04771	p.Val5Met	rs756630764	missense variant	-	NC_000002.12:g.157799481C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro9Ser	rs753322618	missense variant	-	NC_000002.12:g.157799469G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile12Val	rs759017686	missense variant	-	NC_000002.12:g.157799460T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met13Arg	rs1315007491	missense variant	-	NC_000002.12:g.157799456A>C	gnomAD
ACVR1	Q04771	p.Ile14Phe	rs773936526	missense variant	-	NC_000002.12:g.157799454T>A	ExAC,gnomAD
ACVR1	Q04771	p.Ala15Gly	rs13406336	missense variant	-	NC_000002.12:g.157799450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala15Gly	RCV000350817	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157799450G>C	ClinVar
ACVR1	Q04771	p.Pro17Ser	COSM3568196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157799445G>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Ser18Thr	rs745444504	missense variant	-	NC_000002.12:g.157799442A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Ala	rs745444504	missense variant	-	NC_000002.12:g.157799442A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Tyr	rs1383805044	missense variant	-	NC_000002.12:g.157799441G>T	gnomAD
ACVR1	Q04771	p.Pro19Ser	rs1158969294	missense variant	-	NC_000002.12:g.157799439G>A	gnomAD
ACVR1	Q04771	p.Ser20Gly	COSM4085822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157799436T>C	NCI-TCGA Cosmic
ACVR1	Q04771	p.Ser20Asn	rs1383193990	missense variant	-	NC_000002.12:g.157799435C>T	gnomAD
ACVR1	Q04771	p.Met21Val	rs1170014341	missense variant	-	NC_000002.12:g.157799433T>C	TOPMed
ACVR1	Q04771	p.Glu22Gln	rs1473120013	missense variant	-	NC_000002.12:g.157799430C>G	gnomAD
ACVR1	Q04771	p.Lys25Arg	rs1157679779	missense variant	-	NC_000002.12:g.157780594T>C	TOPMed
ACVR1	Q04771	p.Pro26Ser	rs377197386	missense variant	-	NC_000002.12:g.157780592G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val28Phe	rs1426099891	missense variant	-	NC_000002.12:g.157780586C>A	TOPMed
ACVR1	Q04771	p.Asn29Ile	rs761642757	missense variant	-	NC_000002.12:g.157780582T>A	ExAC,gnomAD
ACVR1	Q04771	p.Asn29Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157780582T>C	NCI-TCGA
ACVR1	Q04771	p.Pro30Arg	rs1364644712	missense variant	-	NC_000002.12:g.157780579G>C	TOPMed
ACVR1	Q04771	p.Lys31Arg	rs547743970	missense variant	-	NC_000002.12:g.157780576T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu32Pro	rs373607071	missense variant	-	NC_000002.12:g.157780573A>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Tyr33Ter	rs201453468	stop gained	-	NC_000002.12:g.157780569G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met34Thr	rs757848830	missense variant	-	NC_000002.12:g.157780567A>G	ExAC,gnomAD
ACVR1	Q04771	p.Met34Val	rs370437421	missense variant	-	NC_000002.12:g.157780568T>C	ESP
ACVR1	Q04771	p.Met34Arg	rs757848830	missense variant	-	NC_000002.12:g.157780567A>C	ExAC,gnomAD
ACVR1	Q04771	p.Met34Lys	rs757848830	missense variant	-	NC_000002.12:g.157780567A>T	ExAC,gnomAD
ACVR1	Q04771	p.Val36Ala	rs377466501	missense variant	-	NC_000002.12:g.157780561A>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val36Glu	rs377466501	missense variant	-	NC_000002.12:g.157780561A>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu38ValPheSerTerUnkUnk	COSM1008059	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.157780555_157780556insCA	NCI-TCGA Cosmic
ACVR1	Q04771	p.Gly39Ser	rs983884500	missense variant	-	NC_000002.12:g.157780553C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	UniProt,dbSNP
ACVR1	Q04771	p.Ser41Phe	VAR_041393	missense variant	-	NC_000002.12:g.157780546G>A	UniProt
ACVR1	Q04771	p.Gly43Ser	rs112489929	missense variant	-	NC_000002.12:g.157780541C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn44Ser	rs1321405252	missense variant	-	NC_000002.12:g.157780537T>C	TOPMed
ACVR1	Q04771	p.Asn44His	rs1006682010	missense variant	-	NC_000002.12:g.157780538T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Glu45Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157780535C>T	NCI-TCGA
ACVR1	Q04771	p.Asp46Ala	rs1219780031	missense variant	-	NC_000002.12:g.157780531T>G	TOPMed
ACVR1	Q04771	p.His47Tyr	rs889434177	missense variant	-	NC_000002.12:g.157780529G>A	TOPMed,gnomAD
ACVR1	Q04771	p.His47Asn	rs889434177	missense variant	-	NC_000002.12:g.157780529G>T	TOPMed,gnomAD
ACVR1	Q04771	p.His47Asp	rs889434177	missense variant	-	NC_000002.12:g.157780529G>C	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	rs34056189	missense variant	-	NC_000002.12:g.157780527G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	RCV000406342	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157780527G>C	ClinVar
ACVR1	Q04771	p.Glu49Lys	rs1219953789	missense variant	-	NC_000002.12:g.157780523C>T	gnomAD
ACVR1	Q04771	p.Gly50Val	COSM6154652	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157780519C>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Gly50Cys	COSM1008057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157780520C>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Gln51His	rs1320913728	missense variant	-	NC_000002.12:g.157780515C>A	gnomAD
ACVR1	Q04771	p.Gln52His	rs1266976280	missense variant	-	NC_000002.12:g.157780512C>G	gnomAD
ACVR1	Q04771	p.Phe54Ser	rs1300205903	missense variant	-	NC_000002.12:g.157780507A>G	gnomAD
ACVR1	Q04771	p.Ser58Thr	rs779531410	missense variant	-	NC_000002.12:g.157780495C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile59Val	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>C	gnomAD
ACVR1	Q04771	p.Ile59Phe	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>A	gnomAD
ACVR1	Q04771	p.Asn60Ser	COSM4912317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157780489T>C	NCI-TCGA Cosmic
ACVR1	Q04771	p.Asp61Asn	rs772534199	missense variant	-	NC_000002.12:g.157780487C>T	gnomAD
ACVR1	Q04771	p.Asp61Val	rs748590407	missense variant	-	NC_000002.12:g.157780486T>A	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Gly	rs748590407	missense variant	-	NC_000002.12:g.157780486T>C	ExAC,gnomAD
ACVR1	Q04771	p.Gly62Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157780484C>T	NCI-TCGA
ACVR1	Q04771	p.Phe63Ser	rs764818005	missense variant	-	NC_000002.12:g.157780480A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val65Ile	rs370028017	missense variant	-	NC_000002.12:g.157780475C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly69Val	COSM69527	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157780462C>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Glu75Gly	rs1176995618	missense variant	-	NC_000002.12:g.157780444T>C	gnomAD
ACVR1	Q04771	p.Gln76Arg	rs763961607	missense variant	-	NC_000002.12:g.157780441T>C	ExAC,gnomAD
ACVR1	Q04771	p.Gln76Pro	rs763961607	missense variant	-	NC_000002.12:g.157780441T>G	ExAC,gnomAD
ACVR1	Q04771	p.Lys78Glu	rs1240600134	missense variant	-	NC_000002.12:g.157780436T>C	gnomAD
ACVR1	Q04771	p.Met79Ile	rs1403278698	missense variant	-	NC_000002.12:g.157780431C>T	TOPMed
ACVR1	Q04771	p.Cys81Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157780426C>T	NCI-TCGA
ACVR1	Q04771	p.Lys82Glu	rs1354910596	missense variant	-	NC_000002.12:g.157780424T>C	TOPMed
ACVR1	Q04771	p.Pro84Gln	rs775537696	missense variant	-	NC_000002.12:g.157780417G>T	ExAC,gnomAD
ACVR1	Q04771	p.Pro84Leu	rs775537696	missense variant	-	NC_000002.12:g.157780417G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro85Leu	rs1329223493	missense variant	-	NC_000002.12:g.157780414G>A	TOPMed
ACVR1	Q04771	p.Ser86Phe	rs773459224	missense variant	-	NC_000002.12:g.157780411G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro87Leu	rs1036913529	missense variant	-	NC_000002.12:g.157780408G>A	TOPMed
ACVR1	Q04771	p.Gly88Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157780405C>A	NCI-TCGA
ACVR1	Q04771	p.Gln89Arg	rs1033271814	missense variant	-	NC_000002.12:g.157780402T>C	TOPMed
ACVR1	Q04771	p.Ala90Thr	rs1377494192	missense variant	-	NC_000002.12:g.157780400C>T	gnomAD
ACVR1	Q04771	p.Gln95Arg	rs1367397338	missense variant	-	NC_000002.12:g.157780384T>C	gnomAD
ACVR1	Q04771	p.Gly96Glu	rs373678733	missense variant	-	NC_000002.12:g.157780381C>T	ESP
ACVR1	Q04771	p.Gly96Arg	rs748419133	missense variant	-	NC_000002.12:g.157780382C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp98Ter	rs769135409	stop gained	-	NC_000002.12:g.157780374C>T	ExAC,gnomAD
ACVR1	Q04771	p.Asn100Ser	rs747439148	missense variant	-	NC_000002.12:g.157780369T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Gly	rs780585007	missense variant	-	NC_000002.12:g.157780367T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Thr	rs369211520	missense variant	-	NC_000002.12:g.157780366C>G	ESP,TOPMed
ACVR1	Q04771	p.Thr104Met	rs758925804	missense variant	-	NC_000002.12:g.157780357G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln106His	rs376138658	missense variant	-	NC_000002.12:g.157780350C>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro108Ser	rs1423804322	missense variant	-	NC_000002.12:g.157780346G>A	gnomAD
ACVR1	Q04771	p.Lys112Asn	rs138808563	missense variant	-	NC_000002.12:g.157778338T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Lys112Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157778339T>G	NCI-TCGA
ACVR1	Q04771	p.Ser113Thr	rs1303422236	missense variant	-	NC_000002.12:g.157778337A>T	TOPMed
ACVR1	Q04771	p.Pro115Ser	VAR_041395	Missense	-	-	UniProt
ACVR1	Q04771	p.His121Leu	rs1265994310	missense variant	-	NC_000002.12:g.157778312T>A	gnomAD
ACVR1	Q04771	p.His121Tyr	rs756858830	missense variant	-	NC_000002.12:g.157778313G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val124Phe	rs748870121	missense variant	-	NC_000002.12:g.157778304C>A	ExAC,gnomAD
ACVR1	Q04771	p.Val124Ala	rs1278430564	missense variant	-	NC_000002.12:g.157778303A>G	TOPMed
ACVR1	Q04771	p.Ile127Val	rs1277715491	missense variant	-	NC_000002.12:g.157778295T>C	gnomAD
ACVR1	Q04771	p.Ile128Phe	rs1400837052	missense variant	-	NC_000002.12:g.157778292T>A	gnomAD
ACVR1	Q04771	p.Leu129Phe	rs755755509	missense variant	-	NC_000002.12:g.157778289G>A	ExAC
ACVR1	Q04771	p.Ser130Phe	rs1342623415	missense variant	-	NC_000002.12:g.157778285G>A	gnomAD
ACVR1	Q04771	p.Val131Ile	rs767431486	missense variant	-	NC_000002.12:g.157778283C>T	ExAC,gnomAD
ACVR1	Q04771	p.Val131Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157778282A>G	NCI-TCGA
ACVR1	Q04771	p.Val132Ala	rs74905152	missense variant	-	NC_000002.12:g.157778279A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe133Leu	rs1450825927	missense variant	-	NC_000002.12:g.157778277A>G	TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Ser	rs765195676	missense variant	-	NC_000002.12:g.157778274C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Thr	rs765195676	missense variant	-	NC_000002.12:g.157778274C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu141Gln	COSM4085821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157778252A>T	NCI-TCGA Cosmic
ACVR1	Q04771	p.Leu141Pro	rs760813831	missense variant	-	NC_000002.12:g.157778252A>G	ExAC,gnomAD
ACVR1	Q04771	p.Gly143Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.157778247C>A	NCI-TCGA
ACVR1	Q04771	p.Val144Ala	rs775776209	missense variant	-	NC_000002.12:g.157778243A>G	ExAC,gnomAD
ACVR1	Q04771	p.Ala145Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157778241C>T	NCI-TCGA
ACVR1	Q04771	p.Arg147Gln	rs373187352	missense variant	-	NC_000002.12:g.157778234C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Ter	rs1267861432	stop gained	-	NC_000002.12:g.157778235G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Phe149Tyr	rs746369903	missense variant	-	NC_000002.12:g.157778228A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Phe149Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157778228A>C	NCI-TCGA
ACVR1	Q04771	p.Arg151Trp	rs1381732329	missense variant	-	NC_000002.12:g.157778223T>A	TOPMed
ACVR1	Q04771	p.Arg152Cys	rs771363719	missense variant	-	NC_000002.12:g.157778220G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg152His	rs748791232	missense variant	-	NC_000002.12:g.157778219C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn153Asp	rs1281575126	missense variant	-	NC_000002.12:g.157778217T>C	gnomAD
ACVR1	Q04771	p.Gln154Lys	rs1232871090	missense variant	-	NC_000002.12:g.157778214G>T	gnomAD
ACVR1	Q04771	p.Glu155Gln	rs1332027312	missense variant	-	NC_000002.12:g.157778211C>G	gnomAD
ACVR1	Q04771	p.Arg156Leu	rs755732603	missense variant	-	NC_000002.12:g.157778207C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg156Cys	rs777150519	missense variant	-	NC_000002.12:g.157778208G>A	ExAC,TOPMed
ACVR1	Q04771	p.Arg156His	rs755732603	missense variant	-	NC_000002.12:g.157778207C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn158Ser	rs781127308	missense variant	-	NC_000002.12:g.157778201T>C	ExAC,gnomAD
ACVR1	Q04771	p.Pro159Ser	rs374836197	missense variant	-	NC_000002.12:g.157778199G>A	ESP
ACVR1	Q04771	p.Arg160Gly	rs188547477	missense variant	-	NC_000002.12:g.157778196G>C	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Arg160Gln	rs751524299	missense variant	-	NC_000002.12:g.157778195C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp161Glu	rs766295467	missense variant	-	NC_000002.12:g.157778191G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val162Met	rs201452185	missense variant	-	NC_000002.12:g.157778190C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr164Ser	rs1377987645	missense variant	-	NC_000002.12:g.157778183T>G	gnomAD
ACVR1	Q04771	p.Gly165Asp	rs1269251512	missense variant	-	NC_000002.12:g.157778180C>T	gnomAD
ACVR1	Q04771	p.Glu168Lys	rs764097240	missense variant	-	NC_000002.12:g.157778172C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu170Phe	rs979341093	missense variant	-	NC_000002.12:g.157778166G>A	TOPMed
ACVR1	Q04771	p.Ile171Phe	COSM1325846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157778163T>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Ile171Thr	rs1315491312	missense variant	-	NC_000002.12:g.157778162A>G	TOPMed
ACVR1	Q04771	p.Thr172Ser	rs145150729	missense variant	-	NC_000002.12:g.157778159G>C	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Thr173Ile	rs1199234423	missense variant	-	NC_000002.12:g.157778156G>A	gnomAD
ACVR1	Q04771	p.Asn174Ile	rs374178479	missense variant	-	NC_000002.12:g.157778153T>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Ser	rs374178479	missense variant	-	NC_000002.12:g.157778153T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Thr	rs374178479	missense variant	-	NC_000002.12:g.157778153T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser178Arg	rs759844485	missense variant	-	NC_000002.12:g.157778142T>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr179Ala	rs774729034	missense variant	-	NC_000002.12:g.157778139T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu183Val	rs767686530	missense variant	-	NC_000002.12:g.157774184A>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu183Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157774183A>G	NCI-TCGA
ACVR1	Q04771	p.Leu184Phe	rs41265129	missense variant	-	NC_000002.12:g.157774179C>A	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Asp185Gly	COSM1008055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157774177T>C	NCI-TCGA Cosmic
ACVR1	Q04771	p.His186Arg	rs766710069	missense variant	-	NC_000002.12:g.157774174T>C	ExAC,gnomAD
ACVR1	Q04771	p.His186Tyr	rs751891766	missense variant	-	NC_000002.12:g.157774175G>A	ExAC,gnomAD
ACVR1	Q04771	p.Ser187Leu	rs146610930	missense variant	-	NC_000002.12:g.157774171G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys188Tyr	rs769402195	missense variant	-	NC_000002.12:g.157774168C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ser190Leu	COSM3895036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157774162G>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Leu196Pro	RCV000190876	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774144A>G	ClinVar
ACVR1	Q04771	p.Leu196Pro	rs797045135	missense variant	-	NC_000002.12:g.157774144A>G	-
ACVR1	Q04771	p.Pro197_Phe198delinsLeu	VAR_058418	deletion_insertion	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	-	NC_000002.12:g.157774126C>A	-
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt,dbSNP
ACVR1	Q04771	p.Arg202Ile	VAR_058419	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt
ACVR1	Q04771	p.Arg202Ile	RCV000022434	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774126C>A	ClinVar
ACVR1	Q04771	p.Thr203Arg	rs1040973331	missense variant	-	NC_000002.12:g.157774123G>C	TOPMed
ACVR1	Q04771	p.Arg206His	RCV000019971	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt,dbSNP
ACVR1	Q04771	p.Arg206His	VAR_028444	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt
ACVR1	Q04771	p.Arg206Pro	rs121912678	missense variant	-	NC_000002.12:g.157774114C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	-	NC_000002.12:g.157774114C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	RCV000422441	missense variant	-	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Gln207His	rs771829967	missense variant	-	NC_000002.12:g.157774110C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207Pro	rs779886918	missense variant	-	NC_000002.12:g.157774111T>G	ExAC
ACVR1	Q04771	p.Gln207Glu	VAR_058420	Missense	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Glu212Asp	rs201872272	missense variant	-	NC_000002.12:g.157774095C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu212Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157774097C>T	NCI-TCGA
ACVR1	Q04771	p.Cys213Tyr	RCV000658878	missense variant	-	NC_000002.12:g.157774093C>T	ClinVar
ACVR1	Q04771	p.Cys213Tyr	rs778765499	missense variant	-	NC_000002.12:g.157774093C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Ser	rs778765499	missense variant	-	NC_000002.12:g.157774093C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val214Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157774090A>G	NCI-TCGA
ACVR1	Q04771	p.Lys216Asn	rs1396618797	missense variant	-	NC_000002.12:g.157770510T>A	TOPMed,gnomAD
ACVR1	Q04771	p.Tyr219Cys	rs1198591575	missense variant	-	NC_000002.12:g.157770502T>C	TOPMed
ACVR1	Q04771	p.Tyr219Cys	rs1198591575	missense variant	-	NC_000002.12:g.157770502T>C	NCI-TCGA
ACVR1	Q04771	p.Trp223Ter	rs1465199127	stop gained	-	NC_000002.12:g.157770490C>T	gnomAD
ACVR1	Q04771	p.Ser226Asn	rs1401182199	missense variant	-	NC_000002.12:g.157770481C>T	gnomAD
ACVR1	Q04771	p.Ser226Gly	rs902199134	missense variant	-	NC_000002.12:g.157770482T>C	TOPMed
ACVR1	Q04771	p.Trp227Cys	COSM1564743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157770477C>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Gln228His	rs1271017134	missense variant	-	NC_000002.12:g.157770474T>G	gnomAD
ACVR1	Q04771	p.Gly229Glu	rs770796956	missense variant	-	NC_000002.12:g.157770472C>T	ExAC,gnomAD
ACVR1	Q04771	p.Glu230Gly	rs749279563	missense variant	-	NC_000002.12:g.157770469T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ala233Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157770460G>A	NCI-TCGA
ACVR1	Q04771	p.Val234Met	rs1198616498	missense variant	-	NC_000002.12:g.157770458C>T	gnomAD
ACVR1	Q04771	p.Ile236Leu	rs747230014	missense variant	-	NC_000002.12:g.157770452T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Phe237Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.157770448_157770449insTAACTACCTTTGCTTCATGATTCTAGAGTACTTTT	NCI-TCGA
ACVR1	Q04771	p.Arg240Ser	rs750691291	missense variant	-	NC_000002.12:g.157770440G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Cys	rs750691291	missense variant	-	NC_000002.12:g.157770440G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu242Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157770433T>A	NCI-TCGA
ACVR1	Q04771	p.Trp245Ter	rs765713093	stop gained	-	NC_000002.12:g.157770424C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Leu	rs765713093	missense variant	-	NC_000002.12:g.157770424C>A	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs757827984	stop gained	-	NC_000002.12:g.157770423C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Tyr	rs763667205	missense variant	-	NC_000002.12:g.157770421A>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Leu	rs754465233	missense variant	-	NC_000002.12:g.157770422A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157770421A>G	NCI-TCGA
ACVR1	Q04771	p.Arg247Lys	COSM6088277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157770418C>T	NCI-TCGA Cosmic
ACVR1	Q04771	p.Thr249Met	rs760152551	missense variant	-	NC_000002.12:g.157770412G>A	ExAC,gnomAD
ACVR1	Q04771	p.Leu251Ser	COSM1008051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157770406A>G	NCI-TCGA Cosmic
ACVR1	Q04771	p.Val255Leu	rs1177191263	missense variant	-	NC_000002.12:g.157770395C>A	gnomAD
ACVR1	Q04771	p.Met256Arg	rs1236989443	missense variant	-	NC_000002.12:g.157770391A>C	TOPMed
ACVR1	Q04771	p.Arg258Met	rs1057519875	missense variant	-	NC_000002.12:g.157770385C>A	-
ACVR1	Q04771	p.Arg258Met	rs1057519875	missense variant	-	NC_000002.12:g.157770385C>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Arg258Gly	RCV000437179	missense variant	-	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000198218	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	rs863224846	missense variant	-	NC_000002.12:g.157770386T>C	gnomAD
ACVR1	Q04771	p.Arg258Ser	rs121912680	missense variant	-	NC_000002.12:g.157770384C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg258Gly	RCV000426913	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Ser	RCV000019973	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770384C>G	ClinVar
ACVR1	Q04771	p.Arg258Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157770386T>A	NCI-TCGA
ACVR1	Q04771	p.Arg258Met	RCV000444963	missense variant	-	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000426291	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Glu260Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157770380C>T	NCI-TCGA
ACVR1	Q04771	p.Phe265Ile	rs752089024	missense variant	-	NC_000002.12:g.157766194A>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile266Val	rs767113095	missense variant	-	NC_000002.12:g.157766191T>C	ExAC
ACVR1	Q04771	p.Asp269Asn	rs1254939246	missense variant	-	NC_000002.12:g.157766182C>T	gnomAD
ACVR1	Q04771	p.Thr271Ala	rs1188212622	missense variant	-	NC_000002.12:g.157766176T>C	gnomAD
ACVR1	Q04771	p.His274Tyr	rs375487177	missense variant	-	NC_000002.12:g.157766167G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His274Tyr	RCV000266265	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766167G>A	ClinVar
ACVR1	Q04771	p.Ser276Asn	rs1260691632	missense variant	-	NC_000002.12:g.157766160C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ile282Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157766143T>C	NCI-TCGA
ACVR1	Q04771	p.His286Asn	rs766136409	missense variant	-	NC_000002.12:g.157766131G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu287Lys	COSM6154653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157766128C>T	NCI-TCGA Cosmic
ACVR1	Q04771	p.Met288Leu	rs762684873	missense variant	-	NC_000002.12:g.157766125T>G	ExAC,gnomAD
ACVR1	Q04771	p.Met288Val	rs762684873	missense variant	-	NC_000002.12:g.157766125T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ser290Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157766118G>A	NCI-TCGA
ACVR1	Q04771	p.Leu291Met	rs1403640582	missense variant	-	NC_000002.12:g.157766116A>T	gnomAD
ACVR1	Q04771	p.Leu295Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157766104G>T	NCI-TCGA
ACVR1	Q04771	p.Gln296Glu	rs1297924053	missense variant	-	NC_000002.12:g.157766101G>C	gnomAD
ACVR1	Q04771	p.Thr298Ser	rs772263790	missense variant	-	NC_000002.12:g.157766094G>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr299Ala	COSM1400287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157766092T>C	NCI-TCGA Cosmic
ACVR1	Q04771	p.Thr299Ser	rs746058852	missense variant	-	NC_000002.12:g.157766091G>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu300Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157766089G>C	NCI-TCGA
ACVR1	Q04771	p.Thr302Ile	rs779328796	missense variant	-	NC_000002.12:g.157766082G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser304Asn	rs771301363	missense variant	-	NC_000002.12:g.157766076C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ser304Ile	rs771301363	missense variant	-	NC_000002.12:g.157766076C>A	ExAC,gnomAD
ACVR1	Q04771	p.Cys305Ser	rs377300823	missense variant	-	NC_000002.12:g.157766073C>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Arg307Ter	rs778212213	stop gained	-	NC_000002.12:g.157766068G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg307Gln	rs766547414	missense variant	-	NC_000002.12:g.157766067C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Leu	rs766547414	missense variant	-	NC_000002.12:g.157766067C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Gln	rs766547414	missense variant	-	NC_000002.12:g.157766067C>T	NCI-TCGA,NCI-TCGA Cosmic
ACVR1	Q04771	p.Ala317Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157766037G>A	NCI-TCGA
ACVR1	Q04771	p.Gln327Glu	rs1184040818	missense variant	-	NC_000002.12:g.157766008G>C	gnomAD
ACVR1	Q04771	p.Gly328Trp	RCV000022431	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>A	ClinVar
ACVR1	Q04771	p.Gly328Val	RCV000445088	missense variant	-	NC_000002.12:g.157766004C>A	ClinVar
ACVR1	Q04771	p.Gly328Arg	RCV000022430	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>T	ClinVar
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	-	NC_000002.12:g.157766005C>A	-
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Trp	VAR_058423	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Glu	VAR_058421	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	-	NC_000002.12:g.157766005C>T	-
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Arg	VAR_058422	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt
ACVR1	Q04771	p.Gly328Val	rs387906589	missense variant	-	NC_000002.12:g.157766004C>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Gly328Glu	RCV000624246	missense variant	Inborn genetic diseases	NC_000002.12:g.157766004C>T	ClinVar
ACVR1	Q04771	p.Lys329Asn	rs1207985115	missense variant	-	NC_000002.12:g.157766000T>G	gnomAD
ACVR1	Q04771	p.Lys329Ter	rs934382490	stop gained	-	NC_000002.12:g.157766002T>A	TOPMed
ACVR1	Q04771	p.Pro330Ala	rs1471307549	missense variant	-	NC_000002.12:g.157765999G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ala331Ser	rs1273830277	missense variant	-	NC_000002.12:g.157765996C>A	gnomAD
ACVR1	Q04771	p.Ile332Val	rs1215662062	missense variant	-	NC_000002.12:g.157765993T>C	gnomAD
ACVR1	Q04771	p.His334Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157765986T>C	NCI-TCGA
ACVR1	Q04771	p.Arg335Gln	rs1316254232	missense variant	-	NC_000002.12:g.157765983C>T	gnomAD
ACVR1	Q04771	p.Arg335Gln	rs1316254232	missense variant	-	NC_000002.12:g.157765983C>T	NCI-TCGA
ACVR1	Q04771	p.Leu337Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157765977A>G	NCI-TCGA
ACVR1	Q04771	p.Ser339Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157765971C>A	NCI-TCGA
ACVR1	Q04771	p.Val344Gly	rs1328556577	missense variant	-	NC_000002.12:g.157765956A>C	gnomAD
ACVR1	Q04771	p.Val344Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157765956A>T	NCI-TCGA
ACVR1	Q04771	p.Lys345Arg	rs1299645908	missense variant	-	NC_000002.12:g.157765953T>C	gnomAD
ACVR1	Q04771	p.Lys346Asn	rs144048685	missense variant	-	NC_000002.12:g.157765949C>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile352Val	rs1325945796	missense variant	-	NC_000002.12:g.157765933T>C	gnomAD
ACVR1	Q04771	p.Leu355Phe	rs1397562603	missense variant	-	NC_000002.12:g.157765922C>G	gnomAD
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	-	NC_000002.12:g.157761077C>T	-
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly356Asp	VAR_058424	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	-	NC_000002.12:g.157761077C>T	NCI-TCGA,NCI-TCGA Cosmic
ACVR1	Q04771	p.Gly356Asp	RCV000019972	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761077C>T	ClinVar
ACVR1	Q04771	p.Met360Val	rs1374008691	missense variant	-	NC_000002.12:g.157761066T>C	gnomAD
ACVR1	Q04771	p.Asn372Ser	rs1398213948	missense variant	-	NC_000002.12:g.157761029T>C	gnomAD
ACVR1	Q04771	p.Asn373Ser	rs1453500793	missense variant	-	NC_000002.12:g.157761026T>C	TOPMed
ACVR1	Q04771	p.Arg375Pro	RCV000022433	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761020C>G	ClinVar
ACVR1	Q04771	p.Arg375Cys	rs751000395	missense variant	-	NC_000002.12:g.157761021G>A	NCI-TCGA,NCI-TCGA Cosmic
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt,dbSNP
ACVR1	Q04771	p.Arg375Pro	VAR_058425	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	-	NC_000002.12:g.157761020C>G	-
ACVR1	Q04771	p.Arg375Cys	rs751000395	missense variant	-	NC_000002.12:g.157761021G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg375His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157761020C>T	NCI-TCGA
ACVR1	Q04771	p.Arg380Cys	rs984482376	missense variant	-	NC_000002.12:g.157761006G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Arg380His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157761005C>T	NCI-TCGA
ACVR1	Q04771	p.Met382Val	rs1237577558	missense variant	-	NC_000002.12:g.157761000T>C	gnomAD
ACVR1	Q04771	p.Ala383Val	rs750147467	missense variant	-	NC_000002.12:g.157760996G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro384Ser	rs764912823	missense variant	-	NC_000002.12:g.157760994G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro384Ser	rs764912823	missense variant	-	NC_000002.12:g.157760994G>A	NCI-TCGA
ACVR1	Q04771	p.Glu385Lys	rs1034717563	missense variant	-	NC_000002.12:g.157760991C>T	NCI-TCGA
ACVR1	Q04771	p.Glu385Lys	rs1034717563	missense variant	-	NC_000002.12:g.157760991C>T	TOPMed
ACVR1	Q04771	p.Ile391Val	rs1325715485	missense variant	-	NC_000002.12:g.157760973T>C	TOPMed
ACVR1	Q04771	p.Gln392Arg	rs753599813	missense variant	-	NC_000002.12:g.157760969T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392His	rs1282994566	missense variant	-	NC_000002.12:g.157760968C>G	gnomAD
ACVR1	Q04771	p.Gln392Leu	rs753599813	missense variant	-	NC_000002.12:g.157760969T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Pro	rs753599813	missense variant	-	NC_000002.12:g.157760969T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Leu	rs753599813	missense variant	-	NC_000002.12:g.157760969T>A	NCI-TCGA
ACVR1	Q04771	p.Asp394Asn	rs764053318	missense variant	-	NC_000002.12:g.157760964C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe396Ile	rs760693961	missense variant	-	NC_000002.12:g.157760958A>T	ExAC,gnomAD
ACVR1	Q04771	p.Asp397Asn	rs766633229	missense variant	-	NC_000002.12:g.157760955C>T	ExAC,gnomAD
ACVR1	Q04771	p.Tyr399Cys	rs1331769971	missense variant	-	NC_000002.12:g.157760948T>C	gnomAD
ACVR1	Q04771	p.Lys400Glu	rs1064796674	missense variant	-	NC_000002.12:g.157760946T>C	-
ACVR1	Q04771	p.Lys400Glu	RCV000478819	missense variant	-	NC_000002.12:g.157760946T>C	ClinVar
ACVR1	Q04771	p.Arg401Thr	rs1301730759	missense variant	-	NC_000002.12:g.157760942C>G	TOPMed
ACVR1	Q04771	p.Arg401Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157760941C>G	NCI-TCGA
ACVR1	Q04771	p.Val402Phe	rs773531681	missense variant	-	NC_000002.12:g.157760940C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val402Ile	rs773531681	missense variant	-	NC_000002.12:g.157760940C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp403Asn	rs1314502834	missense variant	-	NC_000002.12:g.157760937C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Asp403Asn	rs1314502834	missense variant	-	NC_000002.12:g.157760937C>T	NCI-TCGA
ACVR1	Q04771	p.Ile404Ser	rs1417727949	missense variant	-	NC_000002.12:g.157760933A>C	gnomAD
ACVR1	Q04771	p.Glu413Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157760907C>G	NCI-TCGA
ACVR1	Q04771	p.Ala415Asp	rs1389258569	missense variant	-	NC_000002.12:g.157760900G>T	gnomAD
ACVR1	Q04771	p.Arg417Gln	rs1366850999	missense variant	-	NC_000002.12:g.157760894C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Met418Thr	rs549634108	missense variant	-	NC_000002.12:g.157760891A>G	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>G	TOPMed,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>A	TOPMed,gnomAD
ACVR1	Q04771	p.Val419Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157760889C>T	NCI-TCGA
ACVR1	Q04771	p.Asn421Ser	rs769089859	missense variant	-	NC_000002.12:g.157760882T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile423Thr	rs1420336375	missense variant	-	NC_000002.12:g.157738567A>G	gnomAD
ACVR1	Q04771	p.Glu425Ala	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Glu425Gly	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Glu425Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157738562C>G	NCI-TCGA
ACVR1	Q04771	p.Pro429Leu	rs568204852	missense variant	-	NC_000002.12:g.157738549G>A	1000Genomes
ACVR1	Q04771	p.Pro429Ser	rs761950656	missense variant	-	NC_000002.12:g.157738550G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro430Leu	COSM5860334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157738546G>A	NCI-TCGA Cosmic
ACVR1	Q04771	p.Tyr432Cys	rs769079595	missense variant	-	NC_000002.12:g.157738540T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Asn	rs776029462	missense variant	-	NC_000002.12:g.157738538C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Gly	rs1026045983	missense variant	-	NC_000002.12:g.157738537T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Pro436Ser	rs1262652803	missense variant	-	NC_000002.12:g.157738529G>A	TOPMed
ACVR1	Q04771	p.Asn437Asp	rs1216474559	missense variant	-	NC_000002.12:g.157738526T>C	gnomAD
ACVR1	Q04771	p.Asn437Ser	rs375101352	missense variant	-	NC_000002.12:g.157738525T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser440Gly	rs745343863	missense variant	-	NC_000002.12:g.157738517T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp443Asn	rs1329295647	missense variant	-	NC_000002.12:g.157738508C>T	gnomAD
ACVR1	Q04771	p.Met444Thr	rs1485718076	missense variant	-	NC_000002.12:g.157738504A>G	TOPMed
ACVR1	Q04771	p.Met444Ile	rs1325258776	missense variant	-	NC_000002.12:g.157738503C>T	gnomAD
ACVR1	Q04771	p.Met444Val	rs1243033111	missense variant	-	NC_000002.12:g.157738505T>C	TOPMed
ACVR1	Q04771	p.Arg445LysTerUnk	rs1462003079	stop gained	-	NC_000002.12:g.157738502_157738503insATTT	gnomAD
ACVR1	Q04771	p.Asp451Val	rs1477301509	missense variant	-	NC_000002.12:g.157738483T>A	gnomAD
ACVR1	Q04771	p.Asp451Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157738484C>T	NCI-TCGA
ACVR1	Q04771	p.Gln452Leu	rs756022457	missense variant	-	NC_000002.12:g.157738480T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg454Gly	rs148153887	missense variant	-	NC_000002.12:g.157738475T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile457Val	rs781232217	missense variant	-	NC_000002.12:g.157738466T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile457Lys	rs1244629836	missense variant	-	NC_000002.12:g.157738465A>T	gnomAD
ACVR1	Q04771	p.Asp464Glu	rs886042941	missense variant	-	NC_000002.12:g.157738443G>C	gnomAD
ACVR1	Q04771	p.Asp464Glu	RCV000399910	missense variant	-	NC_000002.12:g.157738443G>C	ClinVar
ACVR1	Q04771	p.Pro465Leu	rs750457181	missense variant	-	NC_000002.12:g.157738441G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr466Ile	rs754926966	missense variant	-	NC_000002.12:g.157737664G>A	ExAC,gnomAD
ACVR1	Q04771	p.Thr468Ile	rs145780526	missense variant	-	NC_000002.12:g.157737658G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs145780526	missense variant	-	NC_000002.12:g.157737658G>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ala	rs751515337	missense variant	-	NC_000002.12:g.157737659T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs751515337	missense variant	-	NC_000002.12:g.157737659T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Cys	rs989403918	missense variant	-	NC_000002.12:g.157737655G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Ala	rs757333055	missense variant	-	NC_000002.12:g.157737656A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala471Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157737650C>A	NCI-TCGA
ACVR1	Q04771	p.Tyr479Cys	rs1178573933	missense variant	-	NC_000002.12:g.157737625T>C	gnomAD
ACVR1	Q04771	p.Pro482Thr	rs1161864114	missense variant	-	NC_000002.12:g.157737617G>T	gnomAD
ACVR1	Q04771	p.Ala484Thr	rs1256476437	missense variant	-	NC_000002.12:g.157737611C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Arg485Ser	rs767830176	missense variant	-	NC_000002.12:g.157737606T>A	ExAC,gnomAD
ACVR1	Q04771	p.Leu486Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157737604A>G	NCI-TCGA
ACVR1	Q04771	p.Arg490His	rs554387941	missense variant	-	NC_000002.12:g.157737592C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg490Pro	rs554387941	missense variant	-	NC_000002.12:g.157737592C>G	ExAC,gnomAD
ACVR1	Q04771	p.Lys493Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157737582C>A	NCI-TCGA
ACVR1	Q04771	p.Leu495Phe	COSM73566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.157737576C>G	NCI-TCGA Cosmic
ACVR1	Q04771	p.Ile498Thr	rs1026520055	missense variant	-	NC_000002.12:g.157737568A>G	TOPMed
ACVR1	Q04771	p.Asp499Asn	rs1226764570	missense variant	-	NC_000002.12:g.157737566C>T	gnomAD
ACVR1	Q04771	p.Asp503Asn	rs769751827	missense variant	-	NC_000002.12:g.157737554C>T	gnomAD
ACVR1	Q04771	p.Lys504Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.157737550T>A	NCI-TCGA
ACVR1	Q04771	p.Asp508Ter	RCV000520774	nonsense	-	NC_000002.12:g.157737540dup	ClinVar
ACVR1	Q04771	p.Cys509Arg	rs747858448	missense variant	-	NC_000002.12:g.157737536A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val2Ile	rs1280889930	missense variant	-	NC_000002.12:g.157799490C>T	gnomAD
ACVR1	Q04771	p.Gly4Glu	rs1203606345	missense variant	-	NC_000002.12:g.157799483C>T	gnomAD
ACVR1	Q04771	p.Val5Met	rs756630764	missense variant	-	NC_000002.12:g.157799481C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro9Ser	rs753322618	missense variant	-	NC_000002.12:g.157799469G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile12Val	rs759017686	missense variant	-	NC_000002.12:g.157799460T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met13Arg	rs1315007491	missense variant	-	NC_000002.12:g.157799456A>C	gnomAD
ACVR1	Q04771	p.Ile14Phe	rs773936526	missense variant	-	NC_000002.12:g.157799454T>A	ExAC,gnomAD
ACVR1	Q04771	p.Ala15Gly	rs13406336	missense variant	-	NC_000002.12:g.157799450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala15Gly	RCV000350817	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157799450G>C	ClinVar
ACVR1	Q04771	p.Ser18Thr	rs745444504	missense variant	-	NC_000002.12:g.157799442A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Tyr	rs1383805044	missense variant	-	NC_000002.12:g.157799441G>T	gnomAD
ACVR1	Q04771	p.Ser18Ala	rs745444504	missense variant	-	NC_000002.12:g.157799442A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro19Ser	rs1158969294	missense variant	-	NC_000002.12:g.157799439G>A	gnomAD
ACVR1	Q04771	p.Ser20Asn	rs1383193990	missense variant	-	NC_000002.12:g.157799435C>T	gnomAD
ACVR1	Q04771	p.Met21Val	rs1170014341	missense variant	-	NC_000002.12:g.157799433T>C	TOPMed
ACVR1	Q04771	p.Glu22Gln	rs1473120013	missense variant	-	NC_000002.12:g.157799430C>G	gnomAD
ACVR1	Q04771	p.Lys25Arg	rs1157679779	missense variant	-	NC_000002.12:g.157780594T>C	TOPMed
ACVR1	Q04771	p.Pro26Ser	rs377197386	missense variant	-	NC_000002.12:g.157780592G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val28Phe	rs1426099891	missense variant	-	NC_000002.12:g.157780586C>A	TOPMed
ACVR1	Q04771	p.Asn29Ile	rs761642757	missense variant	-	NC_000002.12:g.157780582T>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro30Arg	rs1364644712	missense variant	-	NC_000002.12:g.157780579G>C	TOPMed
ACVR1	Q04771	p.Lys31Arg	rs547743970	missense variant	-	NC_000002.12:g.157780576T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu32Pro	rs373607071	missense variant	-	NC_000002.12:g.157780573A>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Tyr33Ter	rs201453468	stop gained	-	NC_000002.12:g.157780569G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met34Lys	rs757848830	missense variant	-	NC_000002.12:g.157780567A>T	ExAC,gnomAD
ACVR1	Q04771	p.Met34Arg	rs757848830	missense variant	-	NC_000002.12:g.157780567A>C	ExAC,gnomAD
ACVR1	Q04771	p.Met34Val	rs370437421	missense variant	-	NC_000002.12:g.157780568T>C	ESP
ACVR1	Q04771	p.Met34Thr	rs757848830	missense variant	-	NC_000002.12:g.157780567A>G	ExAC,gnomAD
ACVR1	Q04771	p.Val36Glu	rs377466501	missense variant	-	NC_000002.12:g.157780561A>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val36Ala	rs377466501	missense variant	-	NC_000002.12:g.157780561A>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly39Ser	rs983884500	missense variant	-	NC_000002.12:g.157780553C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	UniProt,dbSNP
ACVR1	Q04771	p.Ser41Phe	VAR_041393	missense variant	-	NC_000002.12:g.157780546G>A	UniProt
ACVR1	Q04771	p.Gly43Ser	rs112489929	missense variant	-	NC_000002.12:g.157780541C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn44Ser	rs1321405252	missense variant	-	NC_000002.12:g.157780537T>C	TOPMed
ACVR1	Q04771	p.Asn44His	rs1006682010	missense variant	-	NC_000002.12:g.157780538T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asp46Ala	rs1219780031	missense variant	-	NC_000002.12:g.157780531T>G	TOPMed
ACVR1	Q04771	p.His47Tyr	rs889434177	missense variant	-	NC_000002.12:g.157780529G>A	TOPMed,gnomAD
ACVR1	Q04771	p.His47Asn	rs889434177	missense variant	-	NC_000002.12:g.157780529G>T	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	rs34056189	missense variant	-	NC_000002.12:g.157780527G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His47Asp	rs889434177	missense variant	-	NC_000002.12:g.157780529G>C	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	RCV000406342	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157780527G>C	ClinVar
ACVR1	Q04771	p.Glu49Lys	rs1219953789	missense variant	-	NC_000002.12:g.157780523C>T	gnomAD
ACVR1	Q04771	p.Gln51His	rs1320913728	missense variant	-	NC_000002.12:g.157780515C>A	gnomAD
ACVR1	Q04771	p.Gln52His	rs1266976280	missense variant	-	NC_000002.12:g.157780512C>G	gnomAD
ACVR1	Q04771	p.Phe54Ser	rs1300205903	missense variant	-	NC_000002.12:g.157780507A>G	gnomAD
ACVR1	Q04771	p.Ser58Thr	rs779531410	missense variant	-	NC_000002.12:g.157780495C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile59Val	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>C	gnomAD
ACVR1	Q04771	p.Ile59Phe	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>A	gnomAD
ACVR1	Q04771	p.Asp61Asn	rs772534199	missense variant	-	NC_000002.12:g.157780487C>T	gnomAD
ACVR1	Q04771	p.Asp61Gly	rs748590407	missense variant	-	NC_000002.12:g.157780486T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Val	rs748590407	missense variant	-	NC_000002.12:g.157780486T>A	ExAC,gnomAD
ACVR1	Q04771	p.Phe63Ser	rs764818005	missense variant	-	NC_000002.12:g.157780480A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val65Ile	rs370028017	missense variant	-	NC_000002.12:g.157780475C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu75Gly	rs1176995618	missense variant	-	NC_000002.12:g.157780444T>C	gnomAD
ACVR1	Q04771	p.Gln76Pro	rs763961607	missense variant	-	NC_000002.12:g.157780441T>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln76Arg	rs763961607	missense variant	-	NC_000002.12:g.157780441T>C	ExAC,gnomAD
ACVR1	Q04771	p.Lys78Glu	rs1240600134	missense variant	-	NC_000002.12:g.157780436T>C	gnomAD
ACVR1	Q04771	p.Met79Ile	rs1403278698	missense variant	-	NC_000002.12:g.157780431C>T	TOPMed
ACVR1	Q04771	p.Lys82Glu	rs1354910596	missense variant	-	NC_000002.12:g.157780424T>C	TOPMed
ACVR1	Q04771	p.Pro84Gln	rs775537696	missense variant	-	NC_000002.12:g.157780417G>T	ExAC,gnomAD
ACVR1	Q04771	p.Pro84Leu	rs775537696	missense variant	-	NC_000002.12:g.157780417G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro85Leu	rs1329223493	missense variant	-	NC_000002.12:g.157780414G>A	TOPMed
ACVR1	Q04771	p.Ser86Phe	rs773459224	missense variant	-	NC_000002.12:g.157780411G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro87Leu	rs1036913529	missense variant	-	NC_000002.12:g.157780408G>A	TOPMed
ACVR1	Q04771	p.Gln89Arg	rs1033271814	missense variant	-	NC_000002.12:g.157780402T>C	TOPMed
ACVR1	Q04771	p.Ala90Thr	rs1377494192	missense variant	-	NC_000002.12:g.157780400C>T	gnomAD
ACVR1	Q04771	p.Gln95Arg	rs1367397338	missense variant	-	NC_000002.12:g.157780384T>C	gnomAD
ACVR1	Q04771	p.Gly96Glu	rs373678733	missense variant	-	NC_000002.12:g.157780381C>T	ESP
ACVR1	Q04771	p.Gly96Arg	rs748419133	missense variant	-	NC_000002.12:g.157780382C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp98Ter	rs769135409	stop gained	-	NC_000002.12:g.157780374C>T	ExAC,gnomAD
ACVR1	Q04771	p.Asn100Ser	rs747439148	missense variant	-	NC_000002.12:g.157780369T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Gly	rs780585007	missense variant	-	NC_000002.12:g.157780367T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Thr	rs369211520	missense variant	-	NC_000002.12:g.157780366C>G	ESP,TOPMed
ACVR1	Q04771	p.Thr104Met	rs758925804	missense variant	-	NC_000002.12:g.157780357G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln106His	rs376138658	missense variant	-	NC_000002.12:g.157780350C>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro108Ser	rs1423804322	missense variant	-	NC_000002.12:g.157780346G>A	gnomAD
ACVR1	Q04771	p.Lys112Asn	rs138808563	missense variant	-	NC_000002.12:g.157778338T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser113Thr	rs1303422236	missense variant	-	NC_000002.12:g.157778337A>T	TOPMed
ACVR1	Q04771	p.Pro115Ser	VAR_041395	Missense	-	-	UniProt
ACVR1	Q04771	p.His121Leu	rs1265994310	missense variant	-	NC_000002.12:g.157778312T>A	gnomAD
ACVR1	Q04771	p.His121Tyr	rs756858830	missense variant	-	NC_000002.12:g.157778313G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val124Phe	rs748870121	missense variant	-	NC_000002.12:g.157778304C>A	ExAC,gnomAD
ACVR1	Q04771	p.Val124Ala	rs1278430564	missense variant	-	NC_000002.12:g.157778303A>G	TOPMed
ACVR1	Q04771	p.Ile127Val	rs1277715491	missense variant	-	NC_000002.12:g.157778295T>C	gnomAD
ACVR1	Q04771	p.Ile128Phe	rs1400837052	missense variant	-	NC_000002.12:g.157778292T>A	gnomAD
ACVR1	Q04771	p.Leu129Phe	rs755755509	missense variant	-	NC_000002.12:g.157778289G>A	ExAC
ACVR1	Q04771	p.Ser130Phe	rs1342623415	missense variant	-	NC_000002.12:g.157778285G>A	gnomAD
ACVR1	Q04771	p.Val131Ile	rs767431486	missense variant	-	NC_000002.12:g.157778283C>T	ExAC,gnomAD
ACVR1	Q04771	p.Val132Ala	rs74905152	missense variant	-	NC_000002.12:g.157778279A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe133Leu	rs1450825927	missense variant	-	NC_000002.12:g.157778277A>G	TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Thr	rs765195676	missense variant	-	NC_000002.12:g.157778274C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Ser	rs765195676	missense variant	-	NC_000002.12:g.157778274C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu141Pro	rs760813831	missense variant	-	NC_000002.12:g.157778252A>G	ExAC,gnomAD
ACVR1	Q04771	p.Val144Ala	rs775776209	missense variant	-	NC_000002.12:g.157778243A>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Gln	rs373187352	missense variant	-	NC_000002.12:g.157778234C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Ter	rs1267861432	stop gained	-	NC_000002.12:g.157778235G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Phe149Tyr	rs746369903	missense variant	-	NC_000002.12:g.157778228A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg151Trp	rs1381732329	missense variant	-	NC_000002.12:g.157778223T>A	TOPMed
ACVR1	Q04771	p.Arg152Cys	rs771363719	missense variant	-	NC_000002.12:g.157778220G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg152His	rs748791232	missense variant	-	NC_000002.12:g.157778219C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn153Asp	rs1281575126	missense variant	-	NC_000002.12:g.157778217T>C	gnomAD
ACVR1	Q04771	p.Gln154Lys	rs1232871090	missense variant	-	NC_000002.12:g.157778214G>T	gnomAD
ACVR1	Q04771	p.Glu155Gln	rs1332027312	missense variant	-	NC_000002.12:g.157778211C>G	gnomAD
ACVR1	Q04771	p.Arg156Leu	rs755732603	missense variant	-	NC_000002.12:g.157778207C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg156His	rs755732603	missense variant	-	NC_000002.12:g.157778207C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg156Cys	rs777150519	missense variant	-	NC_000002.12:g.157778208G>A	ExAC,TOPMed
ACVR1	Q04771	p.Asn158Ser	rs781127308	missense variant	-	NC_000002.12:g.157778201T>C	ExAC,gnomAD
ACVR1	Q04771	p.Pro159Ser	rs374836197	missense variant	-	NC_000002.12:g.157778199G>A	ESP
ACVR1	Q04771	p.Arg160Gly	rs188547477	missense variant	-	NC_000002.12:g.157778196G>C	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Arg160Gln	rs751524299	missense variant	-	NC_000002.12:g.157778195C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp161Glu	rs766295467	missense variant	-	NC_000002.12:g.157778191G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val162Met	rs201452185	missense variant	-	NC_000002.12:g.157778190C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr164Ser	rs1377987645	missense variant	-	NC_000002.12:g.157778183T>G	gnomAD
ACVR1	Q04771	p.Gly165Asp	rs1269251512	missense variant	-	NC_000002.12:g.157778180C>T	gnomAD
ACVR1	Q04771	p.Glu168Lys	rs764097240	missense variant	-	NC_000002.12:g.157778172C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu170Phe	rs979341093	missense variant	-	NC_000002.12:g.157778166G>A	TOPMed
ACVR1	Q04771	p.Ile171Thr	rs1315491312	missense variant	-	NC_000002.12:g.157778162A>G	TOPMed
ACVR1	Q04771	p.Thr172Ser	rs145150729	missense variant	-	NC_000002.12:g.157778159G>C	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Thr173Ile	rs1199234423	missense variant	-	NC_000002.12:g.157778156G>A	gnomAD
ACVR1	Q04771	p.Asn174Ile	rs374178479	missense variant	-	NC_000002.12:g.157778153T>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Ser	rs374178479	missense variant	-	NC_000002.12:g.157778153T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Thr	rs374178479	missense variant	-	NC_000002.12:g.157778153T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser178Arg	rs759844485	missense variant	-	NC_000002.12:g.157778142T>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr179Ala	rs774729034	missense variant	-	NC_000002.12:g.157778139T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu183Val	rs767686530	missense variant	-	NC_000002.12:g.157774184A>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu184Phe	rs41265129	missense variant	-	NC_000002.12:g.157774179C>A	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.His186Arg	rs766710069	missense variant	-	NC_000002.12:g.157774174T>C	ExAC,gnomAD
ACVR1	Q04771	p.His186Tyr	rs751891766	missense variant	-	NC_000002.12:g.157774175G>A	ExAC,gnomAD
ACVR1	Q04771	p.Ser187Leu	rs146610930	missense variant	-	NC_000002.12:g.157774171G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys188Tyr	rs769402195	missense variant	-	NC_000002.12:g.157774168C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu196Pro	RCV000190876	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774144A>G	ClinVar
ACVR1	Q04771	p.Leu196Pro	rs797045135	missense variant	-	NC_000002.12:g.157774144A>G	-
ACVR1	Q04771	p.Pro197_Phe198delinsLeu	VAR_058418	deletion_insertion	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt,dbSNP
ACVR1	Q04771	p.Arg202Ile	VAR_058419	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	-	NC_000002.12:g.157774126C>A	-
ACVR1	Q04771	p.Arg202Ile	RCV000022434	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774126C>A	ClinVar
ACVR1	Q04771	p.Thr203Arg	rs1040973331	missense variant	-	NC_000002.12:g.157774123G>C	TOPMed
ACVR1	Q04771	p.Arg206His	RCV000422441	missense variant	-	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	RCV000019971	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt,dbSNP
ACVR1	Q04771	p.Arg206His	VAR_028444	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	-	NC_000002.12:g.157774114C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg206Pro	rs121912678	missense variant	-	NC_000002.12:g.157774114C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207His	rs771829967	missense variant	-	NC_000002.12:g.157774110C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207Pro	rs779886918	missense variant	-	NC_000002.12:g.157774111T>G	ExAC
ACVR1	Q04771	p.Gln207Glu	VAR_058420	Missense	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Glu212Asp	rs201872272	missense variant	-	NC_000002.12:g.157774095C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	RCV000658878	missense variant	-	NC_000002.12:g.157774093C>T	ClinVar
ACVR1	Q04771	p.Cys213Tyr	rs778765499	missense variant	-	NC_000002.12:g.157774093C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Ser	rs778765499	missense variant	-	NC_000002.12:g.157774093C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Lys216Asn	rs1396618797	missense variant	-	NC_000002.12:g.157770510T>A	TOPMed,gnomAD
ACVR1	Q04771	p.Tyr219Cys	rs1198591575	missense variant	-	NC_000002.12:g.157770502T>C	TOPMed
ACVR1	Q04771	p.Trp223Ter	rs1465199127	stop gained	-	NC_000002.12:g.157770490C>T	gnomAD
ACVR1	Q04771	p.Ser226Asn	rs1401182199	missense variant	-	NC_000002.12:g.157770481C>T	gnomAD
ACVR1	Q04771	p.Ser226Gly	rs902199134	missense variant	-	NC_000002.12:g.157770482T>C	TOPMed
ACVR1	Q04771	p.Gln228His	rs1271017134	missense variant	-	NC_000002.12:g.157770474T>G	gnomAD
ACVR1	Q04771	p.Gly229Glu	rs770796956	missense variant	-	NC_000002.12:g.157770472C>T	ExAC,gnomAD
ACVR1	Q04771	p.Glu230Gly	rs749279563	missense variant	-	NC_000002.12:g.157770469T>C	ExAC,gnomAD
ACVR1	Q04771	p.Val234Met	rs1198616498	missense variant	-	NC_000002.12:g.157770458C>T	gnomAD
ACVR1	Q04771	p.Ile236Leu	rs747230014	missense variant	-	NC_000002.12:g.157770452T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Cys	rs750691291	missense variant	-	NC_000002.12:g.157770440G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Ser	rs750691291	missense variant	-	NC_000002.12:g.157770440G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs765713093	stop gained	-	NC_000002.12:g.157770424C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Leu	rs765713093	missense variant	-	NC_000002.12:g.157770424C>A	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs757827984	stop gained	-	NC_000002.12:g.157770423C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Tyr	rs763667205	missense variant	-	NC_000002.12:g.157770421A>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Leu	rs754465233	missense variant	-	NC_000002.12:g.157770422A>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr249Met	rs760152551	missense variant	-	NC_000002.12:g.157770412G>A	ExAC,gnomAD
ACVR1	Q04771	p.Val255Leu	rs1177191263	missense variant	-	NC_000002.12:g.157770395C>A	gnomAD
ACVR1	Q04771	p.Met256Arg	rs1236989443	missense variant	-	NC_000002.12:g.157770391A>C	TOPMed
ACVR1	Q04771	p.Arg258Ser	RCV000019973	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770384C>G	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000198218	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000437179	missense variant	-	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Met	rs1057519875	missense variant	-	NC_000002.12:g.157770385C>A	-
ACVR1	Q04771	p.Arg258Gly	rs863224846	missense variant	-	NC_000002.12:g.157770386T>C	gnomAD
ACVR1	Q04771	p.Arg258Ser	rs121912680	missense variant	-	NC_000002.12:g.157770384C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg258Gly	RCV000426913	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000444963	missense variant	-	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000426291	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Phe265Ile	rs752089024	missense variant	-	NC_000002.12:g.157766194A>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile266Val	rs767113095	missense variant	-	NC_000002.12:g.157766191T>C	ExAC
ACVR1	Q04771	p.Asp269Asn	rs1254939246	missense variant	-	NC_000002.12:g.157766182C>T	gnomAD
ACVR1	Q04771	p.Thr271Ala	rs1188212622	missense variant	-	NC_000002.12:g.157766176T>C	gnomAD
ACVR1	Q04771	p.His274Tyr	rs375487177	missense variant	-	NC_000002.12:g.157766167G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His274Tyr	RCV000266265	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766167G>A	ClinVar
ACVR1	Q04771	p.Ser276Asn	rs1260691632	missense variant	-	NC_000002.12:g.157766160C>T	TOPMed,gnomAD
ACVR1	Q04771	p.His286Asn	rs766136409	missense variant	-	NC_000002.12:g.157766131G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met288Leu	rs762684873	missense variant	-	NC_000002.12:g.157766125T>G	ExAC,gnomAD
ACVR1	Q04771	p.Met288Val	rs762684873	missense variant	-	NC_000002.12:g.157766125T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu291Met	rs1403640582	missense variant	-	NC_000002.12:g.157766116A>T	gnomAD
ACVR1	Q04771	p.Gln296Glu	rs1297924053	missense variant	-	NC_000002.12:g.157766101G>C	gnomAD
ACVR1	Q04771	p.Thr298Ser	rs772263790	missense variant	-	NC_000002.12:g.157766094G>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr299Ser	rs746058852	missense variant	-	NC_000002.12:g.157766091G>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr302Ile	rs779328796	missense variant	-	NC_000002.12:g.157766082G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser304Asn	rs771301363	missense variant	-	NC_000002.12:g.157766076C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ser304Ile	rs771301363	missense variant	-	NC_000002.12:g.157766076C>A	ExAC,gnomAD
ACVR1	Q04771	p.Cys305Ser	rs377300823	missense variant	-	NC_000002.12:g.157766073C>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Arg307Ter	rs778212213	stop gained	-	NC_000002.12:g.157766068G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg307Gln	rs766547414	missense variant	-	NC_000002.12:g.157766067C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Leu	rs766547414	missense variant	-	NC_000002.12:g.157766067C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln327Glu	rs1184040818	missense variant	-	NC_000002.12:g.157766008G>C	gnomAD
ACVR1	Q04771	p.Gly328Val	RCV000445088	missense variant	-	NC_000002.12:g.157766004C>A	ClinVar
ACVR1	Q04771	p.Gly328Trp	RCV000022431	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>A	ClinVar
ACVR1	Q04771	p.Gly328Arg	RCV000022430	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>T	ClinVar
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Trp	VAR_058423	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	-	NC_000002.12:g.157766005C>A	-
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Glu	VAR_058421	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	-	NC_000002.12:g.157766005C>T	-
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Arg	VAR_058422	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt
ACVR1	Q04771	p.Gly328Glu	RCV000624246	missense variant	Inborn genetic diseases	NC_000002.12:g.157766004C>T	ClinVar
ACVR1	Q04771	p.Lys329Asn	rs1207985115	missense variant	-	NC_000002.12:g.157766000T>G	gnomAD
ACVR1	Q04771	p.Lys329Ter	rs934382490	stop gained	-	NC_000002.12:g.157766002T>A	TOPMed
ACVR1	Q04771	p.Pro330Ala	rs1471307549	missense variant	-	NC_000002.12:g.157765999G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ala331Ser	rs1273830277	missense variant	-	NC_000002.12:g.157765996C>A	gnomAD
ACVR1	Q04771	p.Ile332Val	rs1215662062	missense variant	-	NC_000002.12:g.157765993T>C	gnomAD
ACVR1	Q04771	p.Arg335Gln	rs1316254232	missense variant	-	NC_000002.12:g.157765983C>T	gnomAD
ACVR1	Q04771	p.Val344Gly	rs1328556577	missense variant	-	NC_000002.12:g.157765956A>C	gnomAD
ACVR1	Q04771	p.Lys345Arg	rs1299645908	missense variant	-	NC_000002.12:g.157765953T>C	gnomAD
ACVR1	Q04771	p.Lys346Asn	rs144048685	missense variant	-	NC_000002.12:g.157765949C>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile352Val	rs1325945796	missense variant	-	NC_000002.12:g.157765933T>C	gnomAD
ACVR1	Q04771	p.Leu355Phe	rs1397562603	missense variant	-	NC_000002.12:g.157765922C>G	gnomAD
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	-	NC_000002.12:g.157761077C>T	-
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly356Asp	VAR_058424	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt
ACVR1	Q04771	p.Gly356Asp	RCV000019972	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761077C>T	ClinVar
ACVR1	Q04771	p.Met360Val	rs1374008691	missense variant	-	NC_000002.12:g.157761066T>C	gnomAD
ACVR1	Q04771	p.Asn372Ser	rs1398213948	missense variant	-	NC_000002.12:g.157761029T>C	gnomAD
ACVR1	Q04771	p.Asn373Ser	rs1453500793	missense variant	-	NC_000002.12:g.157761026T>C	TOPMed
ACVR1	Q04771	p.Arg375Pro	RCV000022433	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761020C>G	ClinVar
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt,dbSNP
ACVR1	Q04771	p.Arg375Pro	VAR_058425	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	-	NC_000002.12:g.157761020C>G	-
ACVR1	Q04771	p.Arg375Cys	rs751000395	missense variant	-	NC_000002.12:g.157761021G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg380Cys	rs984482376	missense variant	-	NC_000002.12:g.157761006G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Met382Val	rs1237577558	missense variant	-	NC_000002.12:g.157761000T>C	gnomAD
ACVR1	Q04771	p.Ala383Val	rs750147467	missense variant	-	NC_000002.12:g.157760996G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro384Ser	rs764912823	missense variant	-	NC_000002.12:g.157760994G>A	ExAC,gnomAD
ACVR1	Q04771	p.Glu385Lys	rs1034717563	missense variant	-	NC_000002.12:g.157760991C>T	TOPMed
ACVR1	Q04771	p.Ile391Val	rs1325715485	missense variant	-	NC_000002.12:g.157760973T>C	TOPMed
ACVR1	Q04771	p.Gln392Leu	rs753599813	missense variant	-	NC_000002.12:g.157760969T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392His	rs1282994566	missense variant	-	NC_000002.12:g.157760968C>G	gnomAD
ACVR1	Q04771	p.Gln392Arg	rs753599813	missense variant	-	NC_000002.12:g.157760969T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Pro	rs753599813	missense variant	-	NC_000002.12:g.157760969T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp394Asn	rs764053318	missense variant	-	NC_000002.12:g.157760964C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe396Ile	rs760693961	missense variant	-	NC_000002.12:g.157760958A>T	ExAC,gnomAD
ACVR1	Q04771	p.Asp397Asn	rs766633229	missense variant	-	NC_000002.12:g.157760955C>T	ExAC,gnomAD
ACVR1	Q04771	p.Tyr399Cys	rs1331769971	missense variant	-	NC_000002.12:g.157760948T>C	gnomAD
ACVR1	Q04771	p.Lys400Glu	rs1064796674	missense variant	-	NC_000002.12:g.157760946T>C	-
ACVR1	Q04771	p.Lys400Glu	RCV000478819	missense variant	-	NC_000002.12:g.157760946T>C	ClinVar
ACVR1	Q04771	p.Arg401Thr	rs1301730759	missense variant	-	NC_000002.12:g.157760942C>G	TOPMed
ACVR1	Q04771	p.Val402Ile	rs773531681	missense variant	-	NC_000002.12:g.157760940C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val402Phe	rs773531681	missense variant	-	NC_000002.12:g.157760940C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp403Asn	rs1314502834	missense variant	-	NC_000002.12:g.157760937C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ile404Ser	rs1417727949	missense variant	-	NC_000002.12:g.157760933A>C	gnomAD
ACVR1	Q04771	p.Ala415Asp	rs1389258569	missense variant	-	NC_000002.12:g.157760900G>T	gnomAD
ACVR1	Q04771	p.Arg417Gln	rs1366850999	missense variant	-	NC_000002.12:g.157760894C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Met418Thr	rs549634108	missense variant	-	NC_000002.12:g.157760891A>G	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>A	TOPMed,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn421Ser	rs769089859	missense variant	-	NC_000002.12:g.157760882T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile423Thr	rs1420336375	missense variant	-	NC_000002.12:g.157738567A>G	gnomAD
ACVR1	Q04771	p.Glu425Ala	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Glu425Gly	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Pro429Leu	rs568204852	missense variant	-	NC_000002.12:g.157738549G>A	1000Genomes
ACVR1	Q04771	p.Pro429Ser	rs761950656	missense variant	-	NC_000002.12:g.157738550G>A	ExAC,gnomAD
ACVR1	Q04771	p.Tyr432Cys	rs769079595	missense variant	-	NC_000002.12:g.157738540T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Asn	rs776029462	missense variant	-	NC_000002.12:g.157738538C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Gly	rs1026045983	missense variant	-	NC_000002.12:g.157738537T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Pro436Ser	rs1262652803	missense variant	-	NC_000002.12:g.157738529G>A	TOPMed
ACVR1	Q04771	p.Asn437Asp	rs1216474559	missense variant	-	NC_000002.12:g.157738526T>C	gnomAD
ACVR1	Q04771	p.Asn437Ser	rs375101352	missense variant	-	NC_000002.12:g.157738525T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser440Gly	rs745343863	missense variant	-	NC_000002.12:g.157738517T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp443Asn	rs1329295647	missense variant	-	NC_000002.12:g.157738508C>T	gnomAD
ACVR1	Q04771	p.Met444Ile	rs1325258776	missense variant	-	NC_000002.12:g.157738503C>T	gnomAD
ACVR1	Q04771	p.Met444Thr	rs1485718076	missense variant	-	NC_000002.12:g.157738504A>G	TOPMed
ACVR1	Q04771	p.Met444Val	rs1243033111	missense variant	-	NC_000002.12:g.157738505T>C	TOPMed
ACVR1	Q04771	p.Arg445LysTerUnk	rs1462003079	stop gained	-	NC_000002.12:g.157738502_157738503insATTT	gnomAD
ACVR1	Q04771	p.Asp451Val	rs1477301509	missense variant	-	NC_000002.12:g.157738483T>A	gnomAD
ACVR1	Q04771	p.Gln452Leu	rs756022457	missense variant	-	NC_000002.12:g.157738480T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg454Gly	rs148153887	missense variant	-	NC_000002.12:g.157738475T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile457Val	rs781232217	missense variant	-	NC_000002.12:g.157738466T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile457Lys	rs1244629836	missense variant	-	NC_000002.12:g.157738465A>T	gnomAD
ACVR1	Q04771	p.Asp464Glu	rs886042941	missense variant	-	NC_000002.12:g.157738443G>C	gnomAD
ACVR1	Q04771	p.Asp464Glu	RCV000399910	missense variant	-	NC_000002.12:g.157738443G>C	ClinVar
ACVR1	Q04771	p.Pro465Leu	rs750457181	missense variant	-	NC_000002.12:g.157738441G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr466Ile	rs754926966	missense variant	-	NC_000002.12:g.157737664G>A	ExAC,gnomAD
ACVR1	Q04771	p.Thr468Ile	rs145780526	missense variant	-	NC_000002.12:g.157737658G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs145780526	missense variant	-	NC_000002.12:g.157737658G>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ala	rs751515337	missense variant	-	NC_000002.12:g.157737659T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs751515337	missense variant	-	NC_000002.12:g.157737659T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Cys	rs989403918	missense variant	-	NC_000002.12:g.157737655G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Ala	rs757333055	missense variant	-	NC_000002.12:g.157737656A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr479Cys	rs1178573933	missense variant	-	NC_000002.12:g.157737625T>C	gnomAD
ACVR1	Q04771	p.Pro482Thr	rs1161864114	missense variant	-	NC_000002.12:g.157737617G>T	gnomAD
ACVR1	Q04771	p.Ala484Thr	rs1256476437	missense variant	-	NC_000002.12:g.157737611C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Arg485Ser	rs767830176	missense variant	-	NC_000002.12:g.157737606T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg490His	rs554387941	missense variant	-	NC_000002.12:g.157737592C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg490Pro	rs554387941	missense variant	-	NC_000002.12:g.157737592C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile498Thr	rs1026520055	missense variant	-	NC_000002.12:g.157737568A>G	TOPMed
ACVR1	Q04771	p.Asp499Asn	rs1226764570	missense variant	-	NC_000002.12:g.157737566C>T	gnomAD
ACVR1	Q04771	p.Asp503Asn	rs769751827	missense variant	-	NC_000002.12:g.157737554C>T	gnomAD
ACVR1	Q04771	p.Asp508Ter	RCV000520774	nonsense	-	NC_000002.12:g.157737540dup	ClinVar
ACVR1	Q04771	p.Cys509Arg	rs747858448	missense variant	-	NC_000002.12:g.157737536A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val2Ile	rs1280889930	missense variant	-	NC_000002.12:g.157799490C>T	gnomAD
ACVR1	Q04771	p.Gly4Glu	rs1203606345	missense variant	-	NC_000002.12:g.157799483C>T	gnomAD
ACVR1	Q04771	p.Val5Met	rs756630764	missense variant	-	NC_000002.12:g.157799481C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro9Ser	rs753322618	missense variant	-	NC_000002.12:g.157799469G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile12Val	rs759017686	missense variant	-	NC_000002.12:g.157799460T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met13Arg	rs1315007491	missense variant	-	NC_000002.12:g.157799456A>C	gnomAD
ACVR1	Q04771	p.Ile14Phe	rs773936526	missense variant	-	NC_000002.12:g.157799454T>A	ExAC,gnomAD
ACVR1	Q04771	p.Ala15Gly	RCV000350817	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157799450G>C	ClinVar
ACVR1	Q04771	p.Ala15Gly	rs13406336	missense variant	-	NC_000002.12:g.157799450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Thr	rs745444504	missense variant	-	NC_000002.12:g.157799442A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Tyr	rs1383805044	missense variant	-	NC_000002.12:g.157799441G>T	gnomAD
ACVR1	Q04771	p.Ser18Ala	rs745444504	missense variant	-	NC_000002.12:g.157799442A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro19Ser	rs1158969294	missense variant	-	NC_000002.12:g.157799439G>A	gnomAD
ACVR1	Q04771	p.Ser20Asn	rs1383193990	missense variant	-	NC_000002.12:g.157799435C>T	gnomAD
ACVR1	Q04771	p.Met21Val	rs1170014341	missense variant	-	NC_000002.12:g.157799433T>C	TOPMed
ACVR1	Q04771	p.Glu22Gln	rs1473120013	missense variant	-	NC_000002.12:g.157799430C>G	gnomAD
ACVR1	Q04771	p.Lys25Arg	rs1157679779	missense variant	-	NC_000002.12:g.157780594T>C	TOPMed
ACVR1	Q04771	p.Pro26Ser	rs377197386	missense variant	-	NC_000002.12:g.157780592G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val28Phe	rs1426099891	missense variant	-	NC_000002.12:g.157780586C>A	TOPMed
ACVR1	Q04771	p.Asn29Ile	rs761642757	missense variant	-	NC_000002.12:g.157780582T>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro30Arg	rs1364644712	missense variant	-	NC_000002.12:g.157780579G>C	TOPMed
ACVR1	Q04771	p.Lys31Arg	rs547743970	missense variant	-	NC_000002.12:g.157780576T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu32Pro	rs373607071	missense variant	-	NC_000002.12:g.157780573A>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Tyr33Ter	rs201453468	stop gained	-	NC_000002.12:g.157780569G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met34Thr	rs757848830	missense variant	-	NC_000002.12:g.157780567A>G	ExAC,gnomAD
ACVR1	Q04771	p.Met34Lys	rs757848830	missense variant	-	NC_000002.12:g.157780567A>T	ExAC,gnomAD
ACVR1	Q04771	p.Met34Val	rs370437421	missense variant	-	NC_000002.12:g.157780568T>C	ESP
ACVR1	Q04771	p.Met34Arg	rs757848830	missense variant	-	NC_000002.12:g.157780567A>C	ExAC,gnomAD
ACVR1	Q04771	p.Val36Ala	rs377466501	missense variant	-	NC_000002.12:g.157780561A>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val36Glu	rs377466501	missense variant	-	NC_000002.12:g.157780561A>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly39Ser	rs983884500	missense variant	-	NC_000002.12:g.157780553C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	UniProt,dbSNP
ACVR1	Q04771	p.Ser41Phe	VAR_041393	missense variant	-	NC_000002.12:g.157780546G>A	UniProt
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly43Ser	rs112489929	missense variant	-	NC_000002.12:g.157780541C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn44Ser	rs1321405252	missense variant	-	NC_000002.12:g.157780537T>C	TOPMed
ACVR1	Q04771	p.Asn44His	rs1006682010	missense variant	-	NC_000002.12:g.157780538T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asp46Ala	rs1219780031	missense variant	-	NC_000002.12:g.157780531T>G	TOPMed
ACVR1	Q04771	p.His47Tyr	rs889434177	missense variant	-	NC_000002.12:g.157780529G>A	TOPMed,gnomAD
ACVR1	Q04771	p.His47Asp	rs889434177	missense variant	-	NC_000002.12:g.157780529G>C	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	rs34056189	missense variant	-	NC_000002.12:g.157780527G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His47Asn	rs889434177	missense variant	-	NC_000002.12:g.157780529G>T	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	RCV000406342	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157780527G>C	ClinVar
ACVR1	Q04771	p.Glu49Lys	rs1219953789	missense variant	-	NC_000002.12:g.157780523C>T	gnomAD
ACVR1	Q04771	p.Gln51His	rs1320913728	missense variant	-	NC_000002.12:g.157780515C>A	gnomAD
ACVR1	Q04771	p.Gln52His	rs1266976280	missense variant	-	NC_000002.12:g.157780512C>G	gnomAD
ACVR1	Q04771	p.Phe54Ser	rs1300205903	missense variant	-	NC_000002.12:g.157780507A>G	gnomAD
ACVR1	Q04771	p.Ser58Thr	rs779531410	missense variant	-	NC_000002.12:g.157780495C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile59Phe	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>A	gnomAD
ACVR1	Q04771	p.Ile59Val	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>C	gnomAD
ACVR1	Q04771	p.Asp61Asn	rs772534199	missense variant	-	NC_000002.12:g.157780487C>T	gnomAD
ACVR1	Q04771	p.Asp61Val	rs748590407	missense variant	-	NC_000002.12:g.157780486T>A	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Gly	rs748590407	missense variant	-	NC_000002.12:g.157780486T>C	ExAC,gnomAD
ACVR1	Q04771	p.Phe63Ser	rs764818005	missense variant	-	NC_000002.12:g.157780480A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val65Ile	rs370028017	missense variant	-	NC_000002.12:g.157780475C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu75Gly	rs1176995618	missense variant	-	NC_000002.12:g.157780444T>C	gnomAD
ACVR1	Q04771	p.Gln76Pro	rs763961607	missense variant	-	NC_000002.12:g.157780441T>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln76Arg	rs763961607	missense variant	-	NC_000002.12:g.157780441T>C	ExAC,gnomAD
ACVR1	Q04771	p.Lys78Glu	rs1240600134	missense variant	-	NC_000002.12:g.157780436T>C	gnomAD
ACVR1	Q04771	p.Met79Ile	rs1403278698	missense variant	-	NC_000002.12:g.157780431C>T	TOPMed
ACVR1	Q04771	p.Lys82Glu	rs1354910596	missense variant	-	NC_000002.12:g.157780424T>C	TOPMed
ACVR1	Q04771	p.Pro84Gln	rs775537696	missense variant	-	NC_000002.12:g.157780417G>T	ExAC,gnomAD
ACVR1	Q04771	p.Pro84Leu	rs775537696	missense variant	-	NC_000002.12:g.157780417G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro85Leu	rs1329223493	missense variant	-	NC_000002.12:g.157780414G>A	TOPMed
ACVR1	Q04771	p.Ser86Phe	rs773459224	missense variant	-	NC_000002.12:g.157780411G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro87Leu	rs1036913529	missense variant	-	NC_000002.12:g.157780408G>A	TOPMed
ACVR1	Q04771	p.Gln89Arg	rs1033271814	missense variant	-	NC_000002.12:g.157780402T>C	TOPMed
ACVR1	Q04771	p.Ala90Thr	rs1377494192	missense variant	-	NC_000002.12:g.157780400C>T	gnomAD
ACVR1	Q04771	p.Gln95Arg	rs1367397338	missense variant	-	NC_000002.12:g.157780384T>C	gnomAD
ACVR1	Q04771	p.Gly96Glu	rs373678733	missense variant	-	NC_000002.12:g.157780381C>T	ESP
ACVR1	Q04771	p.Gly96Arg	rs748419133	missense variant	-	NC_000002.12:g.157780382C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp98Ter	rs769135409	stop gained	-	NC_000002.12:g.157780374C>T	ExAC,gnomAD
ACVR1	Q04771	p.Asn100Ser	rs747439148	missense variant	-	NC_000002.12:g.157780369T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Gly	rs780585007	missense variant	-	NC_000002.12:g.157780367T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Thr	rs369211520	missense variant	-	NC_000002.12:g.157780366C>G	ESP,TOPMed
ACVR1	Q04771	p.Thr104Met	rs758925804	missense variant	-	NC_000002.12:g.157780357G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln106His	rs376138658	missense variant	-	NC_000002.12:g.157780350C>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro108Ser	rs1423804322	missense variant	-	NC_000002.12:g.157780346G>A	gnomAD
ACVR1	Q04771	p.Lys112Asn	rs138808563	missense variant	-	NC_000002.12:g.157778338T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser113Thr	rs1303422236	missense variant	-	NC_000002.12:g.157778337A>T	TOPMed
ACVR1	Q04771	p.Pro115Ser	VAR_041395	Missense	-	-	UniProt
ACVR1	Q04771	p.His121Leu	rs1265994310	missense variant	-	NC_000002.12:g.157778312T>A	gnomAD
ACVR1	Q04771	p.His121Tyr	rs756858830	missense variant	-	NC_000002.12:g.157778313G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val124Ala	rs1278430564	missense variant	-	NC_000002.12:g.157778303A>G	TOPMed
ACVR1	Q04771	p.Val124Phe	rs748870121	missense variant	-	NC_000002.12:g.157778304C>A	ExAC,gnomAD
ACVR1	Q04771	p.Ile127Val	rs1277715491	missense variant	-	NC_000002.12:g.157778295T>C	gnomAD
ACVR1	Q04771	p.Ile128Phe	rs1400837052	missense variant	-	NC_000002.12:g.157778292T>A	gnomAD
ACVR1	Q04771	p.Leu129Phe	rs755755509	missense variant	-	NC_000002.12:g.157778289G>A	ExAC
ACVR1	Q04771	p.Ser130Phe	rs1342623415	missense variant	-	NC_000002.12:g.157778285G>A	gnomAD
ACVR1	Q04771	p.Val131Ile	rs767431486	missense variant	-	NC_000002.12:g.157778283C>T	ExAC,gnomAD
ACVR1	Q04771	p.Val132Ala	rs74905152	missense variant	-	NC_000002.12:g.157778279A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe133Leu	rs1450825927	missense variant	-	NC_000002.12:g.157778277A>G	TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Thr	rs765195676	missense variant	-	NC_000002.12:g.157778274C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Ser	rs765195676	missense variant	-	NC_000002.12:g.157778274C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu141Pro	rs760813831	missense variant	-	NC_000002.12:g.157778252A>G	ExAC,gnomAD
ACVR1	Q04771	p.Val144Ala	rs775776209	missense variant	-	NC_000002.12:g.157778243A>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Gln	rs373187352	missense variant	-	NC_000002.12:g.157778234C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Ter	rs1267861432	stop gained	-	NC_000002.12:g.157778235G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Phe149Tyr	rs746369903	missense variant	-	NC_000002.12:g.157778228A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg151Trp	rs1381732329	missense variant	-	NC_000002.12:g.157778223T>A	TOPMed
ACVR1	Q04771	p.Arg152Cys	rs771363719	missense variant	-	NC_000002.12:g.157778220G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg152His	rs748791232	missense variant	-	NC_000002.12:g.157778219C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn153Asp	rs1281575126	missense variant	-	NC_000002.12:g.157778217T>C	gnomAD
ACVR1	Q04771	p.Gln154Lys	rs1232871090	missense variant	-	NC_000002.12:g.157778214G>T	gnomAD
ACVR1	Q04771	p.Glu155Gln	rs1332027312	missense variant	-	NC_000002.12:g.157778211C>G	gnomAD
ACVR1	Q04771	p.Arg156Leu	rs755732603	missense variant	-	NC_000002.12:g.157778207C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg156Cys	rs777150519	missense variant	-	NC_000002.12:g.157778208G>A	ExAC,TOPMed
ACVR1	Q04771	p.Arg156His	rs755732603	missense variant	-	NC_000002.12:g.157778207C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn158Ser	rs781127308	missense variant	-	NC_000002.12:g.157778201T>C	ExAC,gnomAD
ACVR1	Q04771	p.Pro159Ser	rs374836197	missense variant	-	NC_000002.12:g.157778199G>A	ESP
ACVR1	Q04771	p.Arg160Gly	rs188547477	missense variant	-	NC_000002.12:g.157778196G>C	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Arg160Gln	rs751524299	missense variant	-	NC_000002.12:g.157778195C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp161Glu	rs766295467	missense variant	-	NC_000002.12:g.157778191G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val162Met	rs201452185	missense variant	-	NC_000002.12:g.157778190C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr164Ser	rs1377987645	missense variant	-	NC_000002.12:g.157778183T>G	gnomAD
ACVR1	Q04771	p.Gly165Asp	rs1269251512	missense variant	-	NC_000002.12:g.157778180C>T	gnomAD
ACVR1	Q04771	p.Glu168Lys	rs764097240	missense variant	-	NC_000002.12:g.157778172C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu170Phe	rs979341093	missense variant	-	NC_000002.12:g.157778166G>A	TOPMed
ACVR1	Q04771	p.Ile171Thr	rs1315491312	missense variant	-	NC_000002.12:g.157778162A>G	TOPMed
ACVR1	Q04771	p.Thr172Ser	rs145150729	missense variant	-	NC_000002.12:g.157778159G>C	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Thr173Ile	rs1199234423	missense variant	-	NC_000002.12:g.157778156G>A	gnomAD
ACVR1	Q04771	p.Asn174Ile	rs374178479	missense variant	-	NC_000002.12:g.157778153T>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Ser	rs374178479	missense variant	-	NC_000002.12:g.157778153T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Thr	rs374178479	missense variant	-	NC_000002.12:g.157778153T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser178Arg	rs759844485	missense variant	-	NC_000002.12:g.157778142T>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr179Ala	rs774729034	missense variant	-	NC_000002.12:g.157778139T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu183Val	rs767686530	missense variant	-	NC_000002.12:g.157774184A>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu184Phe	rs41265129	missense variant	-	NC_000002.12:g.157774179C>A	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.His186Arg	rs766710069	missense variant	-	NC_000002.12:g.157774174T>C	ExAC,gnomAD
ACVR1	Q04771	p.His186Tyr	rs751891766	missense variant	-	NC_000002.12:g.157774175G>A	ExAC,gnomAD
ACVR1	Q04771	p.Ser187Leu	rs146610930	missense variant	-	NC_000002.12:g.157774171G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys188Tyr	rs769402195	missense variant	-	NC_000002.12:g.157774168C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu196Pro	RCV000190876	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774144A>G	ClinVar
ACVR1	Q04771	p.Leu196Pro	rs797045135	missense variant	-	NC_000002.12:g.157774144A>G	-
ACVR1	Q04771	p.Pro197_Phe198delinsLeu	VAR_058418	deletion_insertion	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Arg202Ile	RCV000022434	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774126C>A	ClinVar
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt,dbSNP
ACVR1	Q04771	p.Arg202Ile	VAR_058419	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	-	NC_000002.12:g.157774126C>A	-
ACVR1	Q04771	p.Thr203Arg	rs1040973331	missense variant	-	NC_000002.12:g.157774123G>C	TOPMed
ACVR1	Q04771	p.Arg206His	RCV000422441	missense variant	-	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	RCV000019971	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206Pro	rs121912678	missense variant	-	NC_000002.12:g.157774114C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	-	NC_000002.12:g.157774114C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt,dbSNP
ACVR1	Q04771	p.Arg206His	VAR_028444	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt
ACVR1	Q04771	p.Gln207His	rs771829967	missense variant	-	NC_000002.12:g.157774110C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207Pro	rs779886918	missense variant	-	NC_000002.12:g.157774111T>G	ExAC
ACVR1	Q04771	p.Gln207Glu	VAR_058420	Missense	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Glu212Asp	rs201872272	missense variant	-	NC_000002.12:g.157774095C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	rs778765499	missense variant	-	NC_000002.12:g.157774093C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	RCV000658878	missense variant	-	NC_000002.12:g.157774093C>T	ClinVar
ACVR1	Q04771	p.Cys213Ser	rs778765499	missense variant	-	NC_000002.12:g.157774093C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Lys216Asn	rs1396618797	missense variant	-	NC_000002.12:g.157770510T>A	TOPMed,gnomAD
ACVR1	Q04771	p.Tyr219Cys	rs1198591575	missense variant	-	NC_000002.12:g.157770502T>C	TOPMed
ACVR1	Q04771	p.Trp223Ter	rs1465199127	stop gained	-	NC_000002.12:g.157770490C>T	gnomAD
ACVR1	Q04771	p.Ser226Asn	rs1401182199	missense variant	-	NC_000002.12:g.157770481C>T	gnomAD
ACVR1	Q04771	p.Ser226Gly	rs902199134	missense variant	-	NC_000002.12:g.157770482T>C	TOPMed
ACVR1	Q04771	p.Gln228His	rs1271017134	missense variant	-	NC_000002.12:g.157770474T>G	gnomAD
ACVR1	Q04771	p.Gly229Glu	rs770796956	missense variant	-	NC_000002.12:g.157770472C>T	ExAC,gnomAD
ACVR1	Q04771	p.Glu230Gly	rs749279563	missense variant	-	NC_000002.12:g.157770469T>C	ExAC,gnomAD
ACVR1	Q04771	p.Val234Met	rs1198616498	missense variant	-	NC_000002.12:g.157770458C>T	gnomAD
ACVR1	Q04771	p.Ile236Leu	rs747230014	missense variant	-	NC_000002.12:g.157770452T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Ser	rs750691291	missense variant	-	NC_000002.12:g.157770440G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Cys	rs750691291	missense variant	-	NC_000002.12:g.157770440G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs765713093	stop gained	-	NC_000002.12:g.157770424C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs757827984	stop gained	-	NC_000002.12:g.157770423C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Leu	rs765713093	missense variant	-	NC_000002.12:g.157770424C>A	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Tyr	rs763667205	missense variant	-	NC_000002.12:g.157770421A>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Leu	rs754465233	missense variant	-	NC_000002.12:g.157770422A>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr249Met	rs760152551	missense variant	-	NC_000002.12:g.157770412G>A	ExAC,gnomAD
ACVR1	Q04771	p.Val255Leu	rs1177191263	missense variant	-	NC_000002.12:g.157770395C>A	gnomAD
ACVR1	Q04771	p.Met256Arg	rs1236989443	missense variant	-	NC_000002.12:g.157770391A>C	TOPMed
ACVR1	Q04771	p.Arg258Met	RCV000426291	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Ser	RCV000019973	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770384C>G	ClinVar
ACVR1	Q04771	p.Arg258Met	rs1057519875	missense variant	-	NC_000002.12:g.157770385C>A	-
ACVR1	Q04771	p.Arg258Gly	RCV000198218	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000437179	missense variant	-	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Ser	rs121912680	missense variant	-	NC_000002.12:g.157770384C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg258Gly	rs863224846	missense variant	-	NC_000002.12:g.157770386T>C	gnomAD
ACVR1	Q04771	p.Arg258Met	RCV000444963	missense variant	-	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000426913	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Phe265Ile	rs752089024	missense variant	-	NC_000002.12:g.157766194A>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile266Val	rs767113095	missense variant	-	NC_000002.12:g.157766191T>C	ExAC
ACVR1	Q04771	p.Asp269Asn	rs1254939246	missense variant	-	NC_000002.12:g.157766182C>T	gnomAD
ACVR1	Q04771	p.Thr271Ala	rs1188212622	missense variant	-	NC_000002.12:g.157766176T>C	gnomAD
ACVR1	Q04771	p.His274Tyr	rs375487177	missense variant	-	NC_000002.12:g.157766167G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His274Tyr	RCV000266265	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766167G>A	ClinVar
ACVR1	Q04771	p.Ser276Asn	rs1260691632	missense variant	-	NC_000002.12:g.157766160C>T	TOPMed,gnomAD
ACVR1	Q04771	p.His286Asn	rs766136409	missense variant	-	NC_000002.12:g.157766131G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met288Leu	rs762684873	missense variant	-	NC_000002.12:g.157766125T>G	ExAC,gnomAD
ACVR1	Q04771	p.Met288Val	rs762684873	missense variant	-	NC_000002.12:g.157766125T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu291Met	rs1403640582	missense variant	-	NC_000002.12:g.157766116A>T	gnomAD
ACVR1	Q04771	p.Gln296Glu	rs1297924053	missense variant	-	NC_000002.12:g.157766101G>C	gnomAD
ACVR1	Q04771	p.Thr298Ser	rs772263790	missense variant	-	NC_000002.12:g.157766094G>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr299Ser	rs746058852	missense variant	-	NC_000002.12:g.157766091G>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr302Ile	rs779328796	missense variant	-	NC_000002.12:g.157766082G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser304Asn	rs771301363	missense variant	-	NC_000002.12:g.157766076C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ser304Ile	rs771301363	missense variant	-	NC_000002.12:g.157766076C>A	ExAC,gnomAD
ACVR1	Q04771	p.Cys305Ser	rs377300823	missense variant	-	NC_000002.12:g.157766073C>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Arg307Ter	rs778212213	stop gained	-	NC_000002.12:g.157766068G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg307Gln	rs766547414	missense variant	-	NC_000002.12:g.157766067C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Leu	rs766547414	missense variant	-	NC_000002.12:g.157766067C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln327Glu	rs1184040818	missense variant	-	NC_000002.12:g.157766008G>C	gnomAD
ACVR1	Q04771	p.Gly328Arg	RCV000022430	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>T	ClinVar
ACVR1	Q04771	p.Gly328Val	RCV000445088	missense variant	-	NC_000002.12:g.157766004C>A	ClinVar
ACVR1	Q04771	p.Gly328Trp	RCV000022431	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>A	ClinVar
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Trp	VAR_058423	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	-	NC_000002.12:g.157766005C>A	-
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Glu	VAR_058421	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	-	NC_000002.12:g.157766004C>T	-
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Arg	VAR_058422	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	-	NC_000002.12:g.157766005C>T	-
ACVR1	Q04771	p.Gly328Glu	RCV000624246	missense variant	Inborn genetic diseases	NC_000002.12:g.157766004C>T	ClinVar
ACVR1	Q04771	p.Lys329Asn	rs1207985115	missense variant	-	NC_000002.12:g.157766000T>G	gnomAD
ACVR1	Q04771	p.Lys329Ter	rs934382490	stop gained	-	NC_000002.12:g.157766002T>A	TOPMed
ACVR1	Q04771	p.Pro330Ala	rs1471307549	missense variant	-	NC_000002.12:g.157765999G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ala331Ser	rs1273830277	missense variant	-	NC_000002.12:g.157765996C>A	gnomAD
ACVR1	Q04771	p.Ile332Val	rs1215662062	missense variant	-	NC_000002.12:g.157765993T>C	gnomAD
ACVR1	Q04771	p.Arg335Gln	rs1316254232	missense variant	-	NC_000002.12:g.157765983C>T	gnomAD
ACVR1	Q04771	p.Val344Gly	rs1328556577	missense variant	-	NC_000002.12:g.157765956A>C	gnomAD
ACVR1	Q04771	p.Lys345Arg	rs1299645908	missense variant	-	NC_000002.12:g.157765953T>C	gnomAD
ACVR1	Q04771	p.Lys346Asn	rs144048685	missense variant	-	NC_000002.12:g.157765949C>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile352Val	rs1325945796	missense variant	-	NC_000002.12:g.157765933T>C	gnomAD
ACVR1	Q04771	p.Leu355Phe	rs1397562603	missense variant	-	NC_000002.12:g.157765922C>G	gnomAD
ACVR1	Q04771	p.Gly356Asp	RCV000019972	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761077C>T	ClinVar
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly356Asp	VAR_058424	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	-	NC_000002.12:g.157761077C>T	-
ACVR1	Q04771	p.Met360Val	rs1374008691	missense variant	-	NC_000002.12:g.157761066T>C	gnomAD
ACVR1	Q04771	p.Asn372Ser	rs1398213948	missense variant	-	NC_000002.12:g.157761029T>C	gnomAD
ACVR1	Q04771	p.Asn373Ser	rs1453500793	missense variant	-	NC_000002.12:g.157761026T>C	TOPMed
ACVR1	Q04771	p.Arg375Pro	RCV000022433	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761020C>G	ClinVar
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt,dbSNP
ACVR1	Q04771	p.Arg375Pro	VAR_058425	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	-	NC_000002.12:g.157761020C>G	-
ACVR1	Q04771	p.Arg375Cys	rs751000395	missense variant	-	NC_000002.12:g.157761021G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg380Cys	rs984482376	missense variant	-	NC_000002.12:g.157761006G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Met382Val	rs1237577558	missense variant	-	NC_000002.12:g.157761000T>C	gnomAD
ACVR1	Q04771	p.Ala383Val	rs750147467	missense variant	-	NC_000002.12:g.157760996G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro384Ser	rs764912823	missense variant	-	NC_000002.12:g.157760994G>A	ExAC,gnomAD
ACVR1	Q04771	p.Glu385Lys	rs1034717563	missense variant	-	NC_000002.12:g.157760991C>T	TOPMed
ACVR1	Q04771	p.Ile391Val	rs1325715485	missense variant	-	NC_000002.12:g.157760973T>C	TOPMed
ACVR1	Q04771	p.Gln392Leu	rs753599813	missense variant	-	NC_000002.12:g.157760969T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Arg	rs753599813	missense variant	-	NC_000002.12:g.157760969T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392His	rs1282994566	missense variant	-	NC_000002.12:g.157760968C>G	gnomAD
ACVR1	Q04771	p.Gln392Pro	rs753599813	missense variant	-	NC_000002.12:g.157760969T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp394Asn	rs764053318	missense variant	-	NC_000002.12:g.157760964C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe396Ile	rs760693961	missense variant	-	NC_000002.12:g.157760958A>T	ExAC,gnomAD
ACVR1	Q04771	p.Asp397Asn	rs766633229	missense variant	-	NC_000002.12:g.157760955C>T	ExAC,gnomAD
ACVR1	Q04771	p.Tyr399Cys	rs1331769971	missense variant	-	NC_000002.12:g.157760948T>C	gnomAD
ACVR1	Q04771	p.Lys400Glu	rs1064796674	missense variant	-	NC_000002.12:g.157760946T>C	-
ACVR1	Q04771	p.Lys400Glu	RCV000478819	missense variant	-	NC_000002.12:g.157760946T>C	ClinVar
ACVR1	Q04771	p.Arg401Thr	rs1301730759	missense variant	-	NC_000002.12:g.157760942C>G	TOPMed
ACVR1	Q04771	p.Val402Ile	rs773531681	missense variant	-	NC_000002.12:g.157760940C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val402Phe	rs773531681	missense variant	-	NC_000002.12:g.157760940C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp403Asn	rs1314502834	missense variant	-	NC_000002.12:g.157760937C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ile404Ser	rs1417727949	missense variant	-	NC_000002.12:g.157760933A>C	gnomAD
ACVR1	Q04771	p.Ala415Asp	rs1389258569	missense variant	-	NC_000002.12:g.157760900G>T	gnomAD
ACVR1	Q04771	p.Arg417Gln	rs1366850999	missense variant	-	NC_000002.12:g.157760894C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Met418Thr	rs549634108	missense variant	-	NC_000002.12:g.157760891A>G	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>A	TOPMed,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn421Ser	rs769089859	missense variant	-	NC_000002.12:g.157760882T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile423Thr	rs1420336375	missense variant	-	NC_000002.12:g.157738567A>G	gnomAD
ACVR1	Q04771	p.Glu425Ala	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Glu425Gly	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Pro429Leu	rs568204852	missense variant	-	NC_000002.12:g.157738549G>A	1000Genomes
ACVR1	Q04771	p.Pro429Ser	rs761950656	missense variant	-	NC_000002.12:g.157738550G>A	ExAC,gnomAD
ACVR1	Q04771	p.Tyr432Cys	rs769079595	missense variant	-	NC_000002.12:g.157738540T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Asn	rs776029462	missense variant	-	NC_000002.12:g.157738538C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Gly	rs1026045983	missense variant	-	NC_000002.12:g.157738537T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Pro436Ser	rs1262652803	missense variant	-	NC_000002.12:g.157738529G>A	TOPMed
ACVR1	Q04771	p.Asn437Asp	rs1216474559	missense variant	-	NC_000002.12:g.157738526T>C	gnomAD
ACVR1	Q04771	p.Asn437Ser	rs375101352	missense variant	-	NC_000002.12:g.157738525T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser440Gly	rs745343863	missense variant	-	NC_000002.12:g.157738517T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp443Asn	rs1329295647	missense variant	-	NC_000002.12:g.157738508C>T	gnomAD
ACVR1	Q04771	p.Met444Thr	rs1485718076	missense variant	-	NC_000002.12:g.157738504A>G	TOPMed
ACVR1	Q04771	p.Met444Ile	rs1325258776	missense variant	-	NC_000002.12:g.157738503C>T	gnomAD
ACVR1	Q04771	p.Met444Val	rs1243033111	missense variant	-	NC_000002.12:g.157738505T>C	TOPMed
ACVR1	Q04771	p.Arg445LysTerUnk	rs1462003079	stop gained	-	NC_000002.12:g.157738502_157738503insATTT	gnomAD
ACVR1	Q04771	p.Asp451Val	rs1477301509	missense variant	-	NC_000002.12:g.157738483T>A	gnomAD
ACVR1	Q04771	p.Gln452Leu	rs756022457	missense variant	-	NC_000002.12:g.157738480T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg454Gly	rs148153887	missense variant	-	NC_000002.12:g.157738475T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile457Val	rs781232217	missense variant	-	NC_000002.12:g.157738466T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile457Lys	rs1244629836	missense variant	-	NC_000002.12:g.157738465A>T	gnomAD
ACVR1	Q04771	p.Asp464Glu	rs886042941	missense variant	-	NC_000002.12:g.157738443G>C	gnomAD
ACVR1	Q04771	p.Asp464Glu	RCV000399910	missense variant	-	NC_000002.12:g.157738443G>C	ClinVar
ACVR1	Q04771	p.Pro465Leu	rs750457181	missense variant	-	NC_000002.12:g.157738441G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr466Ile	rs754926966	missense variant	-	NC_000002.12:g.157737664G>A	ExAC,gnomAD
ACVR1	Q04771	p.Thr468Ile	rs145780526	missense variant	-	NC_000002.12:g.157737658G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs145780526	missense variant	-	NC_000002.12:g.157737658G>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ala	rs751515337	missense variant	-	NC_000002.12:g.157737659T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs751515337	missense variant	-	NC_000002.12:g.157737659T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Cys	rs989403918	missense variant	-	NC_000002.12:g.157737655G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Ala	rs757333055	missense variant	-	NC_000002.12:g.157737656A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr479Cys	rs1178573933	missense variant	-	NC_000002.12:g.157737625T>C	gnomAD
ACVR1	Q04771	p.Pro482Thr	rs1161864114	missense variant	-	NC_000002.12:g.157737617G>T	gnomAD
ACVR1	Q04771	p.Ala484Thr	rs1256476437	missense variant	-	NC_000002.12:g.157737611C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Arg485Ser	rs767830176	missense variant	-	NC_000002.12:g.157737606T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg490His	rs554387941	missense variant	-	NC_000002.12:g.157737592C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg490Pro	rs554387941	missense variant	-	NC_000002.12:g.157737592C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile498Thr	rs1026520055	missense variant	-	NC_000002.12:g.157737568A>G	TOPMed
ACVR1	Q04771	p.Asp499Asn	rs1226764570	missense variant	-	NC_000002.12:g.157737566C>T	gnomAD
ACVR1	Q04771	p.Asp503Asn	rs769751827	missense variant	-	NC_000002.12:g.157737554C>T	gnomAD
ACVR1	Q04771	p.Asp508Ter	RCV000520774	nonsense	-	NC_000002.12:g.157737540dup	ClinVar
ACVR1	Q04771	p.Cys509Arg	rs747858448	missense variant	-	NC_000002.12:g.157737536A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val2Ile	rs1280889930	missense variant	-	NC_000002.12:g.157799490C>T	gnomAD
ACVR1	Q04771	p.Gly4Glu	rs1203606345	missense variant	-	NC_000002.12:g.157799483C>T	gnomAD
ACVR1	Q04771	p.Val5Met	rs756630764	missense variant	-	NC_000002.12:g.157799481C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro9Ser	rs753322618	missense variant	-	NC_000002.12:g.157799469G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile12Val	rs759017686	missense variant	-	NC_000002.12:g.157799460T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met13Arg	rs1315007491	missense variant	-	NC_000002.12:g.157799456A>C	gnomAD
ACVR1	Q04771	p.Ile14Phe	rs773936526	missense variant	-	NC_000002.12:g.157799454T>A	ExAC,gnomAD
ACVR1	Q04771	p.Ala15Gly	RCV000350817	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157799450G>C	ClinVar
ACVR1	Q04771	p.Ala15Gly	rs13406336	missense variant	-	NC_000002.12:g.157799450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Ala	rs745444504	missense variant	-	NC_000002.12:g.157799442A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Thr	rs745444504	missense variant	-	NC_000002.12:g.157799442A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Tyr	rs1383805044	missense variant	-	NC_000002.12:g.157799441G>T	gnomAD
ACVR1	Q04771	p.Pro19Ser	rs1158969294	missense variant	-	NC_000002.12:g.157799439G>A	gnomAD
ACVR1	Q04771	p.Ser20Asn	rs1383193990	missense variant	-	NC_000002.12:g.157799435C>T	gnomAD
ACVR1	Q04771	p.Met21Val	rs1170014341	missense variant	-	NC_000002.12:g.157799433T>C	TOPMed
ACVR1	Q04771	p.Glu22Gln	rs1473120013	missense variant	-	NC_000002.12:g.157799430C>G	gnomAD
ACVR1	Q04771	p.Lys25Arg	rs1157679779	missense variant	-	NC_000002.12:g.157780594T>C	TOPMed
ACVR1	Q04771	p.Pro26Ser	rs377197386	missense variant	-	NC_000002.12:g.157780592G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val28Phe	rs1426099891	missense variant	-	NC_000002.12:g.157780586C>A	TOPMed
ACVR1	Q04771	p.Asn29Ile	rs761642757	missense variant	-	NC_000002.12:g.157780582T>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro30Arg	rs1364644712	missense variant	-	NC_000002.12:g.157780579G>C	TOPMed
ACVR1	Q04771	p.Lys31Arg	rs547743970	missense variant	-	NC_000002.12:g.157780576T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu32Pro	rs373607071	missense variant	-	NC_000002.12:g.157780573A>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Tyr33Ter	rs201453468	stop gained	-	NC_000002.12:g.157780569G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met34Thr	rs757848830	missense variant	-	NC_000002.12:g.157780567A>G	ExAC,gnomAD
ACVR1	Q04771	p.Met34Arg	rs757848830	missense variant	-	NC_000002.12:g.157780567A>C	ExAC,gnomAD
ACVR1	Q04771	p.Met34Lys	rs757848830	missense variant	-	NC_000002.12:g.157780567A>T	ExAC,gnomAD
ACVR1	Q04771	p.Met34Val	rs370437421	missense variant	-	NC_000002.12:g.157780568T>C	ESP
ACVR1	Q04771	p.Val36Ala	rs377466501	missense variant	-	NC_000002.12:g.157780561A>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val36Glu	rs377466501	missense variant	-	NC_000002.12:g.157780561A>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly39Ser	rs983884500	missense variant	-	NC_000002.12:g.157780553C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	UniProt,dbSNP
ACVR1	Q04771	p.Ser41Phe	VAR_041393	missense variant	-	NC_000002.12:g.157780546G>A	UniProt
ACVR1	Q04771	p.Gly43Ser	rs112489929	missense variant	-	NC_000002.12:g.157780541C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn44His	rs1006682010	missense variant	-	NC_000002.12:g.157780538T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn44Ser	rs1321405252	missense variant	-	NC_000002.12:g.157780537T>C	TOPMed
ACVR1	Q04771	p.Asp46Ala	rs1219780031	missense variant	-	NC_000002.12:g.157780531T>G	TOPMed
ACVR1	Q04771	p.His47Asp	rs889434177	missense variant	-	NC_000002.12:g.157780529G>C	TOPMed,gnomAD
ACVR1	Q04771	p.His47Asn	rs889434177	missense variant	-	NC_000002.12:g.157780529G>T	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	rs34056189	missense variant	-	NC_000002.12:g.157780527G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His47Tyr	rs889434177	missense variant	-	NC_000002.12:g.157780529G>A	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	RCV000406342	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157780527G>C	ClinVar
ACVR1	Q04771	p.Glu49Lys	rs1219953789	missense variant	-	NC_000002.12:g.157780523C>T	gnomAD
ACVR1	Q04771	p.Gln51His	rs1320913728	missense variant	-	NC_000002.12:g.157780515C>A	gnomAD
ACVR1	Q04771	p.Gln52His	rs1266976280	missense variant	-	NC_000002.12:g.157780512C>G	gnomAD
ACVR1	Q04771	p.Phe54Ser	rs1300205903	missense variant	-	NC_000002.12:g.157780507A>G	gnomAD
ACVR1	Q04771	p.Ser58Thr	rs779531410	missense variant	-	NC_000002.12:g.157780495C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile59Val	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>C	gnomAD
ACVR1	Q04771	p.Ile59Phe	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>A	gnomAD
ACVR1	Q04771	p.Asp61Val	rs748590407	missense variant	-	NC_000002.12:g.157780486T>A	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Gly	rs748590407	missense variant	-	NC_000002.12:g.157780486T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Asn	rs772534199	missense variant	-	NC_000002.12:g.157780487C>T	gnomAD
ACVR1	Q04771	p.Phe63Ser	rs764818005	missense variant	-	NC_000002.12:g.157780480A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val65Ile	rs370028017	missense variant	-	NC_000002.12:g.157780475C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu75Gly	rs1176995618	missense variant	-	NC_000002.12:g.157780444T>C	gnomAD
ACVR1	Q04771	p.Gln76Pro	rs763961607	missense variant	-	NC_000002.12:g.157780441T>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln76Arg	rs763961607	missense variant	-	NC_000002.12:g.157780441T>C	ExAC,gnomAD
ACVR1	Q04771	p.Lys78Glu	rs1240600134	missense variant	-	NC_000002.12:g.157780436T>C	gnomAD
ACVR1	Q04771	p.Met79Ile	rs1403278698	missense variant	-	NC_000002.12:g.157780431C>T	TOPMed
ACVR1	Q04771	p.Lys82Glu	rs1354910596	missense variant	-	NC_000002.12:g.157780424T>C	TOPMed
ACVR1	Q04771	p.Pro84Gln	rs775537696	missense variant	-	NC_000002.12:g.157780417G>T	ExAC,gnomAD
ACVR1	Q04771	p.Pro84Leu	rs775537696	missense variant	-	NC_000002.12:g.157780417G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro85Leu	rs1329223493	missense variant	-	NC_000002.12:g.157780414G>A	TOPMed
ACVR1	Q04771	p.Ser86Phe	rs773459224	missense variant	-	NC_000002.12:g.157780411G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro87Leu	rs1036913529	missense variant	-	NC_000002.12:g.157780408G>A	TOPMed
ACVR1	Q04771	p.Gln89Arg	rs1033271814	missense variant	-	NC_000002.12:g.157780402T>C	TOPMed
ACVR1	Q04771	p.Ala90Thr	rs1377494192	missense variant	-	NC_000002.12:g.157780400C>T	gnomAD
ACVR1	Q04771	p.Gln95Arg	rs1367397338	missense variant	-	NC_000002.12:g.157780384T>C	gnomAD
ACVR1	Q04771	p.Gly96Glu	rs373678733	missense variant	-	NC_000002.12:g.157780381C>T	ESP
ACVR1	Q04771	p.Gly96Arg	rs748419133	missense variant	-	NC_000002.12:g.157780382C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp98Ter	rs769135409	stop gained	-	NC_000002.12:g.157780374C>T	ExAC,gnomAD
ACVR1	Q04771	p.Asn100Ser	rs747439148	missense variant	-	NC_000002.12:g.157780369T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Thr	rs369211520	missense variant	-	NC_000002.12:g.157780366C>G	ESP,TOPMed
ACVR1	Q04771	p.Arg101Gly	rs780585007	missense variant	-	NC_000002.12:g.157780367T>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr104Met	rs758925804	missense variant	-	NC_000002.12:g.157780357G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln106His	rs376138658	missense variant	-	NC_000002.12:g.157780350C>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro108Ser	rs1423804322	missense variant	-	NC_000002.12:g.157780346G>A	gnomAD
ACVR1	Q04771	p.Lys112Asn	rs138808563	missense variant	-	NC_000002.12:g.157778338T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser113Thr	rs1303422236	missense variant	-	NC_000002.12:g.157778337A>T	TOPMed
ACVR1	Q04771	p.Pro115Ser	VAR_041395	Missense	-	-	UniProt
ACVR1	Q04771	p.His121Tyr	rs756858830	missense variant	-	NC_000002.12:g.157778313G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His121Leu	rs1265994310	missense variant	-	NC_000002.12:g.157778312T>A	gnomAD
ACVR1	Q04771	p.Val124Phe	rs748870121	missense variant	-	NC_000002.12:g.157778304C>A	ExAC,gnomAD
ACVR1	Q04771	p.Val124Ala	rs1278430564	missense variant	-	NC_000002.12:g.157778303A>G	TOPMed
ACVR1	Q04771	p.Ile127Val	rs1277715491	missense variant	-	NC_000002.12:g.157778295T>C	gnomAD
ACVR1	Q04771	p.Ile128Phe	rs1400837052	missense variant	-	NC_000002.12:g.157778292T>A	gnomAD
ACVR1	Q04771	p.Leu129Phe	rs755755509	missense variant	-	NC_000002.12:g.157778289G>A	ExAC
ACVR1	Q04771	p.Ser130Phe	rs1342623415	missense variant	-	NC_000002.12:g.157778285G>A	gnomAD
ACVR1	Q04771	p.Val131Ile	rs767431486	missense variant	-	NC_000002.12:g.157778283C>T	ExAC,gnomAD
ACVR1	Q04771	p.Val132Ala	rs74905152	missense variant	-	NC_000002.12:g.157778279A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe133Leu	rs1450825927	missense variant	-	NC_000002.12:g.157778277A>G	TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Thr	rs765195676	missense variant	-	NC_000002.12:g.157778274C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Ser	rs765195676	missense variant	-	NC_000002.12:g.157778274C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu141Pro	rs760813831	missense variant	-	NC_000002.12:g.157778252A>G	ExAC,gnomAD
ACVR1	Q04771	p.Val144Ala	rs775776209	missense variant	-	NC_000002.12:g.157778243A>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Gln	rs373187352	missense variant	-	NC_000002.12:g.157778234C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Ter	rs1267861432	stop gained	-	NC_000002.12:g.157778235G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Phe149Tyr	rs746369903	missense variant	-	NC_000002.12:g.157778228A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg151Trp	rs1381732329	missense variant	-	NC_000002.12:g.157778223T>A	TOPMed
ACVR1	Q04771	p.Arg152His	rs748791232	missense variant	-	NC_000002.12:g.157778219C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg152Cys	rs771363719	missense variant	-	NC_000002.12:g.157778220G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn153Asp	rs1281575126	missense variant	-	NC_000002.12:g.157778217T>C	gnomAD
ACVR1	Q04771	p.Gln154Lys	rs1232871090	missense variant	-	NC_000002.12:g.157778214G>T	gnomAD
ACVR1	Q04771	p.Glu155Gln	rs1332027312	missense variant	-	NC_000002.12:g.157778211C>G	gnomAD
ACVR1	Q04771	p.Arg156Cys	rs777150519	missense variant	-	NC_000002.12:g.157778208G>A	ExAC,TOPMed
ACVR1	Q04771	p.Arg156His	rs755732603	missense variant	-	NC_000002.12:g.157778207C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg156Leu	rs755732603	missense variant	-	NC_000002.12:g.157778207C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn158Ser	rs781127308	missense variant	-	NC_000002.12:g.157778201T>C	ExAC,gnomAD
ACVR1	Q04771	p.Pro159Ser	rs374836197	missense variant	-	NC_000002.12:g.157778199G>A	ESP
ACVR1	Q04771	p.Arg160Gln	rs751524299	missense variant	-	NC_000002.12:g.157778195C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg160Gly	rs188547477	missense variant	-	NC_000002.12:g.157778196G>C	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Asp161Glu	rs766295467	missense variant	-	NC_000002.12:g.157778191G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val162Met	rs201452185	missense variant	-	NC_000002.12:g.157778190C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr164Ser	rs1377987645	missense variant	-	NC_000002.12:g.157778183T>G	gnomAD
ACVR1	Q04771	p.Gly165Asp	rs1269251512	missense variant	-	NC_000002.12:g.157778180C>T	gnomAD
ACVR1	Q04771	p.Glu168Lys	rs764097240	missense variant	-	NC_000002.12:g.157778172C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu170Phe	rs979341093	missense variant	-	NC_000002.12:g.157778166G>A	TOPMed
ACVR1	Q04771	p.Ile171Thr	rs1315491312	missense variant	-	NC_000002.12:g.157778162A>G	TOPMed
ACVR1	Q04771	p.Thr172Ser	rs145150729	missense variant	-	NC_000002.12:g.157778159G>C	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Thr173Ile	rs1199234423	missense variant	-	NC_000002.12:g.157778156G>A	gnomAD
ACVR1	Q04771	p.Asn174Ser	rs374178479	missense variant	-	NC_000002.12:g.157778153T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Thr	rs374178479	missense variant	-	NC_000002.12:g.157778153T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Ile	rs374178479	missense variant	-	NC_000002.12:g.157778153T>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser178Arg	rs759844485	missense variant	-	NC_000002.12:g.157778142T>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr179Ala	rs774729034	missense variant	-	NC_000002.12:g.157778139T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu183Val	rs767686530	missense variant	-	NC_000002.12:g.157774184A>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu184Phe	rs41265129	missense variant	-	NC_000002.12:g.157774179C>A	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.His186Tyr	rs751891766	missense variant	-	NC_000002.12:g.157774175G>A	ExAC,gnomAD
ACVR1	Q04771	p.His186Arg	rs766710069	missense variant	-	NC_000002.12:g.157774174T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ser187Leu	rs146610930	missense variant	-	NC_000002.12:g.157774171G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys188Tyr	rs769402195	missense variant	-	NC_000002.12:g.157774168C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu196Pro	rs797045135	missense variant	-	NC_000002.12:g.157774144A>G	-
ACVR1	Q04771	p.Leu196Pro	RCV000190876	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774144A>G	ClinVar
ACVR1	Q04771	p.Pro197_Phe198delinsLeu	VAR_058418	deletion_insertion	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt,dbSNP
ACVR1	Q04771	p.Arg202Ile	VAR_058419	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	-	NC_000002.12:g.157774126C>A	-
ACVR1	Q04771	p.Arg202Ile	RCV000022434	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774126C>A	ClinVar
ACVR1	Q04771	p.Thr203Arg	rs1040973331	missense variant	-	NC_000002.12:g.157774123G>C	TOPMed
ACVR1	Q04771	p.Arg206Pro	rs121912678	missense variant	-	NC_000002.12:g.157774114C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt,dbSNP
ACVR1	Q04771	p.Arg206His	VAR_028444	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	-	NC_000002.12:g.157774114C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	RCV000019971	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	RCV000422441	missense variant	-	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Gln207Pro	rs779886918	missense variant	-	NC_000002.12:g.157774111T>G	ExAC
ACVR1	Q04771	p.Gln207His	rs771829967	missense variant	-	NC_000002.12:g.157774110C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207Glu	VAR_058420	Missense	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Glu212Asp	rs201872272	missense variant	-	NC_000002.12:g.157774095C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Ser	rs778765499	missense variant	-	NC_000002.12:g.157774093C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	rs778765499	missense variant	-	NC_000002.12:g.157774093C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	RCV000658878	missense variant	-	NC_000002.12:g.157774093C>T	ClinVar
ACVR1	Q04771	p.Lys216Asn	rs1396618797	missense variant	-	NC_000002.12:g.157770510T>A	TOPMed,gnomAD
ACVR1	Q04771	p.Tyr219Cys	rs1198591575	missense variant	-	NC_000002.12:g.157770502T>C	TOPMed
ACVR1	Q04771	p.Trp223Ter	rs1465199127	stop gained	-	NC_000002.12:g.157770490C>T	gnomAD
ACVR1	Q04771	p.Ser226Asn	rs1401182199	missense variant	-	NC_000002.12:g.157770481C>T	gnomAD
ACVR1	Q04771	p.Ser226Gly	rs902199134	missense variant	-	NC_000002.12:g.157770482T>C	TOPMed
ACVR1	Q04771	p.Gln228His	rs1271017134	missense variant	-	NC_000002.12:g.157770474T>G	gnomAD
ACVR1	Q04771	p.Gly229Glu	rs770796956	missense variant	-	NC_000002.12:g.157770472C>T	ExAC,gnomAD
ACVR1	Q04771	p.Glu230Gly	rs749279563	missense variant	-	NC_000002.12:g.157770469T>C	ExAC,gnomAD
ACVR1	Q04771	p.Val234Met	rs1198616498	missense variant	-	NC_000002.12:g.157770458C>T	gnomAD
ACVR1	Q04771	p.Ile236Leu	rs747230014	missense variant	-	NC_000002.12:g.157770452T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Cys	rs750691291	missense variant	-	NC_000002.12:g.157770440G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Ser	rs750691291	missense variant	-	NC_000002.12:g.157770440G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs757827984	stop gained	-	NC_000002.12:g.157770423C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs765713093	stop gained	-	NC_000002.12:g.157770424C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Leu	rs765713093	missense variant	-	NC_000002.12:g.157770424C>A	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Leu	rs754465233	missense variant	-	NC_000002.12:g.157770422A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Tyr	rs763667205	missense variant	-	NC_000002.12:g.157770421A>T	ExAC,gnomAD
ACVR1	Q04771	p.Thr249Met	rs760152551	missense variant	-	NC_000002.12:g.157770412G>A	ExAC,gnomAD
ACVR1	Q04771	p.Val255Leu	rs1177191263	missense variant	-	NC_000002.12:g.157770395C>A	gnomAD
ACVR1	Q04771	p.Met256Arg	rs1236989443	missense variant	-	NC_000002.12:g.157770391A>C	TOPMed
ACVR1	Q04771	p.Arg258Gly	rs863224846	missense variant	-	NC_000002.12:g.157770386T>C	gnomAD
ACVR1	Q04771	p.Arg258Ser	rs121912680	missense variant	-	NC_000002.12:g.157770384C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg258Met	rs1057519875	missense variant	-	NC_000002.12:g.157770385C>A	-
ACVR1	Q04771	p.Arg258Met	RCV000426291	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Ser	RCV000019973	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770384C>G	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000437179	missense variant	-	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000198218	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000444963	missense variant	-	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000426913	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Phe265Ile	rs752089024	missense variant	-	NC_000002.12:g.157766194A>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile266Val	rs767113095	missense variant	-	NC_000002.12:g.157766191T>C	ExAC
ACVR1	Q04771	p.Asp269Asn	rs1254939246	missense variant	-	NC_000002.12:g.157766182C>T	gnomAD
ACVR1	Q04771	p.Thr271Ala	rs1188212622	missense variant	-	NC_000002.12:g.157766176T>C	gnomAD
ACVR1	Q04771	p.His274Tyr	rs375487177	missense variant	-	NC_000002.12:g.157766167G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His274Tyr	RCV000266265	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766167G>A	ClinVar
ACVR1	Q04771	p.Ser276Asn	rs1260691632	missense variant	-	NC_000002.12:g.157766160C>T	TOPMed,gnomAD
ACVR1	Q04771	p.His286Asn	rs766136409	missense variant	-	NC_000002.12:g.157766131G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met288Val	rs762684873	missense variant	-	NC_000002.12:g.157766125T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met288Leu	rs762684873	missense variant	-	NC_000002.12:g.157766125T>G	ExAC,gnomAD
ACVR1	Q04771	p.Leu291Met	rs1403640582	missense variant	-	NC_000002.12:g.157766116A>T	gnomAD
ACVR1	Q04771	p.Gln296Glu	rs1297924053	missense variant	-	NC_000002.12:g.157766101G>C	gnomAD
ACVR1	Q04771	p.Thr298Ser	rs772263790	missense variant	-	NC_000002.12:g.157766094G>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr299Ser	rs746058852	missense variant	-	NC_000002.12:g.157766091G>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr302Ile	rs779328796	missense variant	-	NC_000002.12:g.157766082G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser304Asn	rs771301363	missense variant	-	NC_000002.12:g.157766076C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ser304Ile	rs771301363	missense variant	-	NC_000002.12:g.157766076C>A	ExAC,gnomAD
ACVR1	Q04771	p.Cys305Ser	rs377300823	missense variant	-	NC_000002.12:g.157766073C>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Arg307Leu	rs766547414	missense variant	-	NC_000002.12:g.157766067C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Gln	rs766547414	missense variant	-	NC_000002.12:g.157766067C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Ter	rs778212213	stop gained	-	NC_000002.12:g.157766068G>A	ExAC,gnomAD
ACVR1	Q04771	p.Gln327Glu	rs1184040818	missense variant	-	NC_000002.12:g.157766008G>C	gnomAD
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Arg	VAR_058422	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	-	NC_000002.12:g.157766005C>T	-
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Glu	VAR_058421	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	-	NC_000002.12:g.157766004C>T	-
ACVR1	Q04771	p.Gly328Val	rs387906589	missense variant	-	NC_000002.12:g.157766004C>A	-
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Trp	VAR_058423	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	-	NC_000002.12:g.157766005C>A	-
ACVR1	Q04771	p.Gly328Arg	RCV000022430	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>T	ClinVar
ACVR1	Q04771	p.Gly328Val	RCV000445088	missense variant	-	NC_000002.12:g.157766004C>A	ClinVar
ACVR1	Q04771	p.Gly328Trp	RCV000022431	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>A	ClinVar
ACVR1	Q04771	p.Gly328Glu	RCV000624246	missense variant	Inborn genetic diseases	NC_000002.12:g.157766004C>T	ClinVar
ACVR1	Q04771	p.Lys329Ter	rs934382490	stop gained	-	NC_000002.12:g.157766002T>A	TOPMed
ACVR1	Q04771	p.Lys329Asn	rs1207985115	missense variant	-	NC_000002.12:g.157766000T>G	gnomAD
ACVR1	Q04771	p.Pro330Ala	rs1471307549	missense variant	-	NC_000002.12:g.157765999G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ala331Ser	rs1273830277	missense variant	-	NC_000002.12:g.157765996C>A	gnomAD
ACVR1	Q04771	p.Ile332Val	rs1215662062	missense variant	-	NC_000002.12:g.157765993T>C	gnomAD
ACVR1	Q04771	p.Arg335Gln	rs1316254232	missense variant	-	NC_000002.12:g.157765983C>T	gnomAD
ACVR1	Q04771	p.Val344Gly	rs1328556577	missense variant	-	NC_000002.12:g.157765956A>C	gnomAD
ACVR1	Q04771	p.Lys345Arg	rs1299645908	missense variant	-	NC_000002.12:g.157765953T>C	gnomAD
ACVR1	Q04771	p.Lys346Asn	rs144048685	missense variant	-	NC_000002.12:g.157765949C>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile352Val	rs1325945796	missense variant	-	NC_000002.12:g.157765933T>C	gnomAD
ACVR1	Q04771	p.Leu355Phe	rs1397562603	missense variant	-	NC_000002.12:g.157765922C>G	gnomAD
ACVR1	Q04771	p.Gly356Asp	RCV000019972	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761077C>T	ClinVar
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly356Asp	VAR_058424	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	-	NC_000002.12:g.157761077C>T	-
ACVR1	Q04771	p.Met360Val	rs1374008691	missense variant	-	NC_000002.12:g.157761066T>C	gnomAD
ACVR1	Q04771	p.Asn372Ser	rs1398213948	missense variant	-	NC_000002.12:g.157761029T>C	gnomAD
ACVR1	Q04771	p.Asn373Ser	rs1453500793	missense variant	-	NC_000002.12:g.157761026T>C	TOPMed
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	-	NC_000002.12:g.157761020C>G	-
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt,dbSNP
ACVR1	Q04771	p.Arg375Pro	VAR_058425	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt
ACVR1	Q04771	p.Arg375Cys	rs751000395	missense variant	-	NC_000002.12:g.157761021G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg375Pro	RCV000022433	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761020C>G	ClinVar
ACVR1	Q04771	p.Arg380Cys	rs984482376	missense variant	-	NC_000002.12:g.157761006G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Met382Val	rs1237577558	missense variant	-	NC_000002.12:g.157761000T>C	gnomAD
ACVR1	Q04771	p.Ala383Val	rs750147467	missense variant	-	NC_000002.12:g.157760996G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro384Ser	rs764912823	missense variant	-	NC_000002.12:g.157760994G>A	ExAC,gnomAD
ACVR1	Q04771	p.Glu385Lys	rs1034717563	missense variant	-	NC_000002.12:g.157760991C>T	TOPMed
ACVR1	Q04771	p.Ile391Val	rs1325715485	missense variant	-	NC_000002.12:g.157760973T>C	TOPMed
ACVR1	Q04771	p.Gln392His	rs1282994566	missense variant	-	NC_000002.12:g.157760968C>G	gnomAD
ACVR1	Q04771	p.Gln392Leu	rs753599813	missense variant	-	NC_000002.12:g.157760969T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Arg	rs753599813	missense variant	-	NC_000002.12:g.157760969T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Pro	rs753599813	missense variant	-	NC_000002.12:g.157760969T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp394Asn	rs764053318	missense variant	-	NC_000002.12:g.157760964C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe396Ile	rs760693961	missense variant	-	NC_000002.12:g.157760958A>T	ExAC,gnomAD
ACVR1	Q04771	p.Asp397Asn	rs766633229	missense variant	-	NC_000002.12:g.157760955C>T	ExAC,gnomAD
ACVR1	Q04771	p.Tyr399Cys	rs1331769971	missense variant	-	NC_000002.12:g.157760948T>C	gnomAD
ACVR1	Q04771	p.Lys400Glu	rs1064796674	missense variant	-	NC_000002.12:g.157760946T>C	-
ACVR1	Q04771	p.Lys400Glu	RCV000478819	missense variant	-	NC_000002.12:g.157760946T>C	ClinVar
ACVR1	Q04771	p.Arg401Thr	rs1301730759	missense variant	-	NC_000002.12:g.157760942C>G	TOPMed
ACVR1	Q04771	p.Val402Ile	rs773531681	missense variant	-	NC_000002.12:g.157760940C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val402Phe	rs773531681	missense variant	-	NC_000002.12:g.157760940C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp403Asn	rs1314502834	missense variant	-	NC_000002.12:g.157760937C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ile404Ser	rs1417727949	missense variant	-	NC_000002.12:g.157760933A>C	gnomAD
ACVR1	Q04771	p.Ala415Asp	rs1389258569	missense variant	-	NC_000002.12:g.157760900G>T	gnomAD
ACVR1	Q04771	p.Arg417Gln	rs1366850999	missense variant	-	NC_000002.12:g.157760894C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Met418Thr	rs549634108	missense variant	-	NC_000002.12:g.157760891A>G	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>A	TOPMed,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn421Ser	rs769089859	missense variant	-	NC_000002.12:g.157760882T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile423Thr	rs1420336375	missense variant	-	NC_000002.12:g.157738567A>G	gnomAD
ACVR1	Q04771	p.Glu425Ala	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Glu425Gly	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Pro429Ser	rs761950656	missense variant	-	NC_000002.12:g.157738550G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro429Leu	rs568204852	missense variant	-	NC_000002.12:g.157738549G>A	1000Genomes
ACVR1	Q04771	p.Tyr432Cys	rs769079595	missense variant	-	NC_000002.12:g.157738540T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Gly	rs1026045983	missense variant	-	NC_000002.12:g.157738537T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Asn	rs776029462	missense variant	-	NC_000002.12:g.157738538C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro436Ser	rs1262652803	missense variant	-	NC_000002.12:g.157738529G>A	TOPMed
ACVR1	Q04771	p.Asn437Ser	rs375101352	missense variant	-	NC_000002.12:g.157738525T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn437Asp	rs1216474559	missense variant	-	NC_000002.12:g.157738526T>C	gnomAD
ACVR1	Q04771	p.Ser440Gly	rs745343863	missense variant	-	NC_000002.12:g.157738517T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp443Asn	rs1329295647	missense variant	-	NC_000002.12:g.157738508C>T	gnomAD
ACVR1	Q04771	p.Met444Val	rs1243033111	missense variant	-	NC_000002.12:g.157738505T>C	TOPMed
ACVR1	Q04771	p.Met444Thr	rs1485718076	missense variant	-	NC_000002.12:g.157738504A>G	TOPMed
ACVR1	Q04771	p.Met444Ile	rs1325258776	missense variant	-	NC_000002.12:g.157738503C>T	gnomAD
ACVR1	Q04771	p.Arg445LysTerUnk	rs1462003079	stop gained	-	NC_000002.12:g.157738502_157738503insATTT	gnomAD
ACVR1	Q04771	p.Asp451Val	rs1477301509	missense variant	-	NC_000002.12:g.157738483T>A	gnomAD
ACVR1	Q04771	p.Gln452Leu	rs756022457	missense variant	-	NC_000002.12:g.157738480T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg454Gly	rs148153887	missense variant	-	NC_000002.12:g.157738475T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile457Lys	rs1244629836	missense variant	-	NC_000002.12:g.157738465A>T	gnomAD
ACVR1	Q04771	p.Ile457Val	rs781232217	missense variant	-	NC_000002.12:g.157738466T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp464Glu	rs886042941	missense variant	-	NC_000002.12:g.157738443G>C	gnomAD
ACVR1	Q04771	p.Asp464Glu	RCV000399910	missense variant	-	NC_000002.12:g.157738443G>C	ClinVar
ACVR1	Q04771	p.Pro465Leu	rs750457181	missense variant	-	NC_000002.12:g.157738441G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr466Ile	rs754926966	missense variant	-	NC_000002.12:g.157737664G>A	ExAC,gnomAD
ACVR1	Q04771	p.Thr468Ala	rs751515337	missense variant	-	NC_000002.12:g.157737659T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs145780526	missense variant	-	NC_000002.12:g.157737658G>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ile	rs145780526	missense variant	-	NC_000002.12:g.157737658G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs751515337	missense variant	-	NC_000002.12:g.157737659T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Cys	rs989403918	missense variant	-	NC_000002.12:g.157737655G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Ala	rs757333055	missense variant	-	NC_000002.12:g.157737656A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr479Cys	rs1178573933	missense variant	-	NC_000002.12:g.157737625T>C	gnomAD
ACVR1	Q04771	p.Pro482Thr	rs1161864114	missense variant	-	NC_000002.12:g.157737617G>T	gnomAD
ACVR1	Q04771	p.Ala484Thr	rs1256476437	missense variant	-	NC_000002.12:g.157737611C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Arg485Ser	rs767830176	missense variant	-	NC_000002.12:g.157737606T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg490His	rs554387941	missense variant	-	NC_000002.12:g.157737592C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg490Pro	rs554387941	missense variant	-	NC_000002.12:g.157737592C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile498Thr	rs1026520055	missense variant	-	NC_000002.12:g.157737568A>G	TOPMed
ACVR1	Q04771	p.Asp499Asn	rs1226764570	missense variant	-	NC_000002.12:g.157737566C>T	gnomAD
ACVR1	Q04771	p.Asp503Asn	rs769751827	missense variant	-	NC_000002.12:g.157737554C>T	gnomAD
ACVR1	Q04771	p.Asp508Ter	RCV000520774	nonsense	-	NC_000002.12:g.157737540dup	ClinVar
ACVR1	Q04771	p.Cys509Arg	rs747858448	missense variant	-	NC_000002.12:g.157737536A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val2Ile	rs1280889930	missense variant	-	NC_000002.12:g.157799490C>T	gnomAD
ACVR1	Q04771	p.Gly4Glu	rs1203606345	missense variant	-	NC_000002.12:g.157799483C>T	gnomAD
ACVR1	Q04771	p.Val5Met	rs756630764	missense variant	-	NC_000002.12:g.157799481C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro9Ser	rs753322618	missense variant	-	NC_000002.12:g.157799469G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile12Val	rs759017686	missense variant	-	NC_000002.12:g.157799460T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met13Arg	rs1315007491	missense variant	-	NC_000002.12:g.157799456A>C	gnomAD
ACVR1	Q04771	p.Ile14Phe	rs773936526	missense variant	-	NC_000002.12:g.157799454T>A	ExAC,gnomAD
ACVR1	Q04771	p.Ala15Gly	rs13406336	missense variant	-	NC_000002.12:g.157799450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala15Gly	RCV000350817	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157799450G>C	ClinVar
ACVR1	Q04771	p.Ser18Thr	rs745444504	missense variant	-	NC_000002.12:g.157799442A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Ala	rs745444504	missense variant	-	NC_000002.12:g.157799442A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Tyr	rs1383805044	missense variant	-	NC_000002.12:g.157799441G>T	gnomAD
ACVR1	Q04771	p.Pro19Ser	rs1158969294	missense variant	-	NC_000002.12:g.157799439G>A	gnomAD
ACVR1	Q04771	p.Ser20Asn	rs1383193990	missense variant	-	NC_000002.12:g.157799435C>T	gnomAD
ACVR1	Q04771	p.Met21Val	rs1170014341	missense variant	-	NC_000002.12:g.157799433T>C	TOPMed
ACVR1	Q04771	p.Glu22Gln	rs1473120013	missense variant	-	NC_000002.12:g.157799430C>G	gnomAD
ACVR1	Q04771	p.Lys25Arg	rs1157679779	missense variant	-	NC_000002.12:g.157780594T>C	TOPMed
ACVR1	Q04771	p.Pro26Ser	rs377197386	missense variant	-	NC_000002.12:g.157780592G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val28Phe	rs1426099891	missense variant	-	NC_000002.12:g.157780586C>A	TOPMed
ACVR1	Q04771	p.Asn29Ile	rs761642757	missense variant	-	NC_000002.12:g.157780582T>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro30Arg	rs1364644712	missense variant	-	NC_000002.12:g.157780579G>C	TOPMed
ACVR1	Q04771	p.Lys31Arg	rs547743970	missense variant	-	NC_000002.12:g.157780576T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu32Pro	rs373607071	missense variant	-	NC_000002.12:g.157780573A>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Tyr33Ter	rs201453468	stop gained	-	NC_000002.12:g.157780569G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met34Val	rs370437421	missense variant	-	NC_000002.12:g.157780568T>C	ESP
ACVR1	Q04771	p.Met34Thr	rs757848830	missense variant	-	NC_000002.12:g.157780567A>G	ExAC,gnomAD
ACVR1	Q04771	p.Met34Arg	rs757848830	missense variant	-	NC_000002.12:g.157780567A>C	ExAC,gnomAD
ACVR1	Q04771	p.Met34Lys	rs757848830	missense variant	-	NC_000002.12:g.157780567A>T	ExAC,gnomAD
ACVR1	Q04771	p.Val36Ala	rs377466501	missense variant	-	NC_000002.12:g.157780561A>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val36Glu	rs377466501	missense variant	-	NC_000002.12:g.157780561A>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly39Ser	rs983884500	missense variant	-	NC_000002.12:g.157780553C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	UniProt,dbSNP
ACVR1	Q04771	p.Ser41Phe	VAR_041393	missense variant	-	NC_000002.12:g.157780546G>A	UniProt
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly43Ser	rs112489929	missense variant	-	NC_000002.12:g.157780541C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn44His	rs1006682010	missense variant	-	NC_000002.12:g.157780538T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn44Ser	rs1321405252	missense variant	-	NC_000002.12:g.157780537T>C	TOPMed
ACVR1	Q04771	p.Asp46Ala	rs1219780031	missense variant	-	NC_000002.12:g.157780531T>G	TOPMed
ACVR1	Q04771	p.His47Gln	rs34056189	missense variant	-	NC_000002.12:g.157780527G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His47Asn	rs889434177	missense variant	-	NC_000002.12:g.157780529G>T	TOPMed,gnomAD
ACVR1	Q04771	p.His47Asp	rs889434177	missense variant	-	NC_000002.12:g.157780529G>C	TOPMed,gnomAD
ACVR1	Q04771	p.His47Tyr	rs889434177	missense variant	-	NC_000002.12:g.157780529G>A	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	RCV000406342	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157780527G>C	ClinVar
ACVR1	Q04771	p.Glu49Lys	rs1219953789	missense variant	-	NC_000002.12:g.157780523C>T	gnomAD
ACVR1	Q04771	p.Gln51His	rs1320913728	missense variant	-	NC_000002.12:g.157780515C>A	gnomAD
ACVR1	Q04771	p.Gln52His	rs1266976280	missense variant	-	NC_000002.12:g.157780512C>G	gnomAD
ACVR1	Q04771	p.Phe54Ser	rs1300205903	missense variant	-	NC_000002.12:g.157780507A>G	gnomAD
ACVR1	Q04771	p.Ser58Thr	rs779531410	missense variant	-	NC_000002.12:g.157780495C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile59Val	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>C	gnomAD
ACVR1	Q04771	p.Ile59Phe	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>A	gnomAD
ACVR1	Q04771	p.Asp61Gly	rs748590407	missense variant	-	NC_000002.12:g.157780486T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Val	rs748590407	missense variant	-	NC_000002.12:g.157780486T>A	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Asn	rs772534199	missense variant	-	NC_000002.12:g.157780487C>T	gnomAD
ACVR1	Q04771	p.Phe63Ser	rs764818005	missense variant	-	NC_000002.12:g.157780480A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val65Ile	rs370028017	missense variant	-	NC_000002.12:g.157780475C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu75Gly	rs1176995618	missense variant	-	NC_000002.12:g.157780444T>C	gnomAD
ACVR1	Q04771	p.Gln76Pro	rs763961607	missense variant	-	NC_000002.12:g.157780441T>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln76Arg	rs763961607	missense variant	-	NC_000002.12:g.157780441T>C	ExAC,gnomAD
ACVR1	Q04771	p.Lys78Glu	rs1240600134	missense variant	-	NC_000002.12:g.157780436T>C	gnomAD
ACVR1	Q04771	p.Met79Ile	rs1403278698	missense variant	-	NC_000002.12:g.157780431C>T	TOPMed
ACVR1	Q04771	p.Lys82Glu	rs1354910596	missense variant	-	NC_000002.12:g.157780424T>C	TOPMed
ACVR1	Q04771	p.Pro84Gln	rs775537696	missense variant	-	NC_000002.12:g.157780417G>T	ExAC,gnomAD
ACVR1	Q04771	p.Pro84Leu	rs775537696	missense variant	-	NC_000002.12:g.157780417G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro85Leu	rs1329223493	missense variant	-	NC_000002.12:g.157780414G>A	TOPMed
ACVR1	Q04771	p.Ser86Phe	rs773459224	missense variant	-	NC_000002.12:g.157780411G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro87Leu	rs1036913529	missense variant	-	NC_000002.12:g.157780408G>A	TOPMed
ACVR1	Q04771	p.Gln89Arg	rs1033271814	missense variant	-	NC_000002.12:g.157780402T>C	TOPMed
ACVR1	Q04771	p.Ala90Thr	rs1377494192	missense variant	-	NC_000002.12:g.157780400C>T	gnomAD
ACVR1	Q04771	p.Gln95Arg	rs1367397338	missense variant	-	NC_000002.12:g.157780384T>C	gnomAD
ACVR1	Q04771	p.Gly96Glu	rs373678733	missense variant	-	NC_000002.12:g.157780381C>T	ESP
ACVR1	Q04771	p.Gly96Arg	rs748419133	missense variant	-	NC_000002.12:g.157780382C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp98Ter	rs769135409	stop gained	-	NC_000002.12:g.157780374C>T	ExAC,gnomAD
ACVR1	Q04771	p.Asn100Ser	rs747439148	missense variant	-	NC_000002.12:g.157780369T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Thr	rs369211520	missense variant	-	NC_000002.12:g.157780366C>G	ESP,TOPMed
ACVR1	Q04771	p.Arg101Gly	rs780585007	missense variant	-	NC_000002.12:g.157780367T>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr104Met	rs758925804	missense variant	-	NC_000002.12:g.157780357G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln106His	rs376138658	missense variant	-	NC_000002.12:g.157780350C>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro108Ser	rs1423804322	missense variant	-	NC_000002.12:g.157780346G>A	gnomAD
ACVR1	Q04771	p.Lys112Asn	rs138808563	missense variant	-	NC_000002.12:g.157778338T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser113Thr	rs1303422236	missense variant	-	NC_000002.12:g.157778337A>T	TOPMed
ACVR1	Q04771	p.Pro115Ser	VAR_041395	Missense	-	-	UniProt
ACVR1	Q04771	p.His121Tyr	rs756858830	missense variant	-	NC_000002.12:g.157778313G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His121Leu	rs1265994310	missense variant	-	NC_000002.12:g.157778312T>A	gnomAD
ACVR1	Q04771	p.Val124Phe	rs748870121	missense variant	-	NC_000002.12:g.157778304C>A	ExAC,gnomAD
ACVR1	Q04771	p.Val124Ala	rs1278430564	missense variant	-	NC_000002.12:g.157778303A>G	TOPMed
ACVR1	Q04771	p.Ile127Val	rs1277715491	missense variant	-	NC_000002.12:g.157778295T>C	gnomAD
ACVR1	Q04771	p.Ile128Phe	rs1400837052	missense variant	-	NC_000002.12:g.157778292T>A	gnomAD
ACVR1	Q04771	p.Leu129Phe	rs755755509	missense variant	-	NC_000002.12:g.157778289G>A	ExAC
ACVR1	Q04771	p.Ser130Phe	rs1342623415	missense variant	-	NC_000002.12:g.157778285G>A	gnomAD
ACVR1	Q04771	p.Val131Ile	rs767431486	missense variant	-	NC_000002.12:g.157778283C>T	ExAC,gnomAD
ACVR1	Q04771	p.Val132Ala	rs74905152	missense variant	-	NC_000002.12:g.157778279A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe133Leu	rs1450825927	missense variant	-	NC_000002.12:g.157778277A>G	TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Ser	rs765195676	missense variant	-	NC_000002.12:g.157778274C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Thr	rs765195676	missense variant	-	NC_000002.12:g.157778274C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu141Pro	rs760813831	missense variant	-	NC_000002.12:g.157778252A>G	ExAC,gnomAD
ACVR1	Q04771	p.Val144Ala	rs775776209	missense variant	-	NC_000002.12:g.157778243A>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Ter	rs1267861432	stop gained	-	NC_000002.12:g.157778235G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Arg147Gln	rs373187352	missense variant	-	NC_000002.12:g.157778234C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe149Tyr	rs746369903	missense variant	-	NC_000002.12:g.157778228A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg151Trp	rs1381732329	missense variant	-	NC_000002.12:g.157778223T>A	TOPMed
ACVR1	Q04771	p.Arg152His	rs748791232	missense variant	-	NC_000002.12:g.157778219C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg152Cys	rs771363719	missense variant	-	NC_000002.12:g.157778220G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn153Asp	rs1281575126	missense variant	-	NC_000002.12:g.157778217T>C	gnomAD
ACVR1	Q04771	p.Gln154Lys	rs1232871090	missense variant	-	NC_000002.12:g.157778214G>T	gnomAD
ACVR1	Q04771	p.Glu155Gln	rs1332027312	missense variant	-	NC_000002.12:g.157778211C>G	gnomAD
ACVR1	Q04771	p.Arg156His	rs755732603	missense variant	-	NC_000002.12:g.157778207C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg156Cys	rs777150519	missense variant	-	NC_000002.12:g.157778208G>A	ExAC,TOPMed
ACVR1	Q04771	p.Arg156Leu	rs755732603	missense variant	-	NC_000002.12:g.157778207C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn158Ser	rs781127308	missense variant	-	NC_000002.12:g.157778201T>C	ExAC,gnomAD
ACVR1	Q04771	p.Pro159Ser	rs374836197	missense variant	-	NC_000002.12:g.157778199G>A	ESP
ACVR1	Q04771	p.Arg160Gln	rs751524299	missense variant	-	NC_000002.12:g.157778195C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg160Gly	rs188547477	missense variant	-	NC_000002.12:g.157778196G>C	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Asp161Glu	rs766295467	missense variant	-	NC_000002.12:g.157778191G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val162Met	rs201452185	missense variant	-	NC_000002.12:g.157778190C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr164Ser	rs1377987645	missense variant	-	NC_000002.12:g.157778183T>G	gnomAD
ACVR1	Q04771	p.Gly165Asp	rs1269251512	missense variant	-	NC_000002.12:g.157778180C>T	gnomAD
ACVR1	Q04771	p.Glu168Lys	rs764097240	missense variant	-	NC_000002.12:g.157778172C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu170Phe	rs979341093	missense variant	-	NC_000002.12:g.157778166G>A	TOPMed
ACVR1	Q04771	p.Ile171Thr	rs1315491312	missense variant	-	NC_000002.12:g.157778162A>G	TOPMed
ACVR1	Q04771	p.Thr172Ser	rs145150729	missense variant	-	NC_000002.12:g.157778159G>C	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Thr173Ile	rs1199234423	missense variant	-	NC_000002.12:g.157778156G>A	gnomAD
ACVR1	Q04771	p.Asn174Thr	rs374178479	missense variant	-	NC_000002.12:g.157778153T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Ser	rs374178479	missense variant	-	NC_000002.12:g.157778153T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Ile	rs374178479	missense variant	-	NC_000002.12:g.157778153T>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser178Arg	rs759844485	missense variant	-	NC_000002.12:g.157778142T>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr179Ala	rs774729034	missense variant	-	NC_000002.12:g.157778139T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu183Val	rs767686530	missense variant	-	NC_000002.12:g.157774184A>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu184Phe	rs41265129	missense variant	-	NC_000002.12:g.157774179C>A	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.His186Tyr	rs751891766	missense variant	-	NC_000002.12:g.157774175G>A	ExAC,gnomAD
ACVR1	Q04771	p.His186Arg	rs766710069	missense variant	-	NC_000002.12:g.157774174T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ser187Leu	rs146610930	missense variant	-	NC_000002.12:g.157774171G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys188Tyr	rs769402195	missense variant	-	NC_000002.12:g.157774168C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu196Pro	rs797045135	missense variant	-	NC_000002.12:g.157774144A>G	-
ACVR1	Q04771	p.Leu196Pro	RCV000190876	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774144A>G	ClinVar
ACVR1	Q04771	p.Pro197_Phe198delinsLeu	VAR_058418	deletion_insertion	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Arg202Ile	RCV000022434	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774126C>A	ClinVar
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt,dbSNP
ACVR1	Q04771	p.Arg202Ile	VAR_058419	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	-	NC_000002.12:g.157774126C>A	-
ACVR1	Q04771	p.Thr203Arg	rs1040973331	missense variant	-	NC_000002.12:g.157774123G>C	TOPMed
ACVR1	Q04771	p.Arg206Pro	rs121912678	missense variant	-	NC_000002.12:g.157774114C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	-	NC_000002.12:g.157774114C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt,dbSNP
ACVR1	Q04771	p.Arg206His	VAR_028444	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt
ACVR1	Q04771	p.Arg206His	RCV000019971	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	RCV000422441	missense variant	-	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Gln207Pro	rs779886918	missense variant	-	NC_000002.12:g.157774111T>G	ExAC
ACVR1	Q04771	p.Gln207His	rs771829967	missense variant	-	NC_000002.12:g.157774110C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207Glu	VAR_058420	Missense	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Glu212Asp	rs201872272	missense variant	-	NC_000002.12:g.157774095C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Ser	rs778765499	missense variant	-	NC_000002.12:g.157774093C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	rs778765499	missense variant	-	NC_000002.12:g.157774093C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	RCV000658878	missense variant	-	NC_000002.12:g.157774093C>T	ClinVar
ACVR1	Q04771	p.Lys216Asn	rs1396618797	missense variant	-	NC_000002.12:g.157770510T>A	TOPMed,gnomAD
ACVR1	Q04771	p.Tyr219Cys	rs1198591575	missense variant	-	NC_000002.12:g.157770502T>C	TOPMed
ACVR1	Q04771	p.Trp223Ter	rs1465199127	stop gained	-	NC_000002.12:g.157770490C>T	gnomAD
ACVR1	Q04771	p.Ser226Gly	rs902199134	missense variant	-	NC_000002.12:g.157770482T>C	TOPMed
ACVR1	Q04771	p.Ser226Asn	rs1401182199	missense variant	-	NC_000002.12:g.157770481C>T	gnomAD
ACVR1	Q04771	p.Gln228His	rs1271017134	missense variant	-	NC_000002.12:g.157770474T>G	gnomAD
ACVR1	Q04771	p.Gly229Glu	rs770796956	missense variant	-	NC_000002.12:g.157770472C>T	ExAC,gnomAD
ACVR1	Q04771	p.Glu230Gly	rs749279563	missense variant	-	NC_000002.12:g.157770469T>C	ExAC,gnomAD
ACVR1	Q04771	p.Val234Met	rs1198616498	missense variant	-	NC_000002.12:g.157770458C>T	gnomAD
ACVR1	Q04771	p.Ile236Leu	rs747230014	missense variant	-	NC_000002.12:g.157770452T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Cys	rs750691291	missense variant	-	NC_000002.12:g.157770440G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Ser	rs750691291	missense variant	-	NC_000002.12:g.157770440G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs757827984	stop gained	-	NC_000002.12:g.157770423C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs765713093	stop gained	-	NC_000002.12:g.157770424C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Leu	rs765713093	missense variant	-	NC_000002.12:g.157770424C>A	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Leu	rs754465233	missense variant	-	NC_000002.12:g.157770422A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Tyr	rs763667205	missense variant	-	NC_000002.12:g.157770421A>T	ExAC,gnomAD
ACVR1	Q04771	p.Thr249Met	rs760152551	missense variant	-	NC_000002.12:g.157770412G>A	ExAC,gnomAD
ACVR1	Q04771	p.Val255Leu	rs1177191263	missense variant	-	NC_000002.12:g.157770395C>A	gnomAD
ACVR1	Q04771	p.Met256Arg	rs1236989443	missense variant	-	NC_000002.12:g.157770391A>C	TOPMed
ACVR1	Q04771	p.Arg258Gly	RCV000426913	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	rs863224846	missense variant	-	NC_000002.12:g.157770386T>C	gnomAD
ACVR1	Q04771	p.Arg258Ser	rs121912680	missense variant	-	NC_000002.12:g.157770384C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg258Met	rs1057519875	missense variant	-	NC_000002.12:g.157770385C>A	-
ACVR1	Q04771	p.Arg258Met	RCV000426291	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000198218	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000437179	missense variant	-	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Ser	RCV000019973	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770384C>G	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000444963	missense variant	-	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Phe265Ile	rs752089024	missense variant	-	NC_000002.12:g.157766194A>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile266Val	rs767113095	missense variant	-	NC_000002.12:g.157766191T>C	ExAC
ACVR1	Q04771	p.Asp269Asn	rs1254939246	missense variant	-	NC_000002.12:g.157766182C>T	gnomAD
ACVR1	Q04771	p.Thr271Ala	rs1188212622	missense variant	-	NC_000002.12:g.157766176T>C	gnomAD
ACVR1	Q04771	p.His274Tyr	rs375487177	missense variant	-	NC_000002.12:g.157766167G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His274Tyr	RCV000266265	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766167G>A	ClinVar
ACVR1	Q04771	p.Ser276Asn	rs1260691632	missense variant	-	NC_000002.12:g.157766160C>T	TOPMed,gnomAD
ACVR1	Q04771	p.His286Asn	rs766136409	missense variant	-	NC_000002.12:g.157766131G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met288Val	rs762684873	missense variant	-	NC_000002.12:g.157766125T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met288Leu	rs762684873	missense variant	-	NC_000002.12:g.157766125T>G	ExAC,gnomAD
ACVR1	Q04771	p.Leu291Met	rs1403640582	missense variant	-	NC_000002.12:g.157766116A>T	gnomAD
ACVR1	Q04771	p.Gln296Glu	rs1297924053	missense variant	-	NC_000002.12:g.157766101G>C	gnomAD
ACVR1	Q04771	p.Thr298Ser	rs772263790	missense variant	-	NC_000002.12:g.157766094G>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr299Ser	rs746058852	missense variant	-	NC_000002.12:g.157766091G>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr302Ile	rs779328796	missense variant	-	NC_000002.12:g.157766082G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser304Asn	rs771301363	missense variant	-	NC_000002.12:g.157766076C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ser304Ile	rs771301363	missense variant	-	NC_000002.12:g.157766076C>A	ExAC,gnomAD
ACVR1	Q04771	p.Cys305Ser	rs377300823	missense variant	-	NC_000002.12:g.157766073C>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Arg307Leu	rs766547414	missense variant	-	NC_000002.12:g.157766067C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Gln	rs766547414	missense variant	-	NC_000002.12:g.157766067C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Ter	rs778212213	stop gained	-	NC_000002.12:g.157766068G>A	ExAC,gnomAD
ACVR1	Q04771	p.Gln327Glu	rs1184040818	missense variant	-	NC_000002.12:g.157766008G>C	gnomAD
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Glu	VAR_058421	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Arg	VAR_058422	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	-	NC_000002.12:g.157766005C>T	-
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	-	NC_000002.12:g.157766005C>A	-
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Trp	VAR_058423	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt
ACVR1	Q04771	p.Gly328Arg	RCV000022430	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>T	ClinVar
ACVR1	Q04771	p.Gly328Trp	RCV000022431	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>A	ClinVar
ACVR1	Q04771	p.Gly328Val	RCV000445088	missense variant	-	NC_000002.12:g.157766004C>A	ClinVar
ACVR1	Q04771	p.Gly328Glu	RCV000624246	missense variant	Inborn genetic diseases	NC_000002.12:g.157766004C>T	ClinVar
ACVR1	Q04771	p.Lys329Ter	rs934382490	stop gained	-	NC_000002.12:g.157766002T>A	TOPMed
ACVR1	Q04771	p.Lys329Asn	rs1207985115	missense variant	-	NC_000002.12:g.157766000T>G	gnomAD
ACVR1	Q04771	p.Pro330Ala	rs1471307549	missense variant	-	NC_000002.12:g.157765999G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ala331Ser	rs1273830277	missense variant	-	NC_000002.12:g.157765996C>A	gnomAD
ACVR1	Q04771	p.Ile332Val	rs1215662062	missense variant	-	NC_000002.12:g.157765993T>C	gnomAD
ACVR1	Q04771	p.Arg335Gln	rs1316254232	missense variant	-	NC_000002.12:g.157765983C>T	gnomAD
ACVR1	Q04771	p.Val344Gly	rs1328556577	missense variant	-	NC_000002.12:g.157765956A>C	gnomAD
ACVR1	Q04771	p.Lys345Arg	rs1299645908	missense variant	-	NC_000002.12:g.157765953T>C	gnomAD
ACVR1	Q04771	p.Lys346Asn	rs144048685	missense variant	-	NC_000002.12:g.157765949C>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile352Val	rs1325945796	missense variant	-	NC_000002.12:g.157765933T>C	gnomAD
ACVR1	Q04771	p.Leu355Phe	rs1397562603	missense variant	-	NC_000002.12:g.157765922C>G	gnomAD
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly356Asp	VAR_058424	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	-	NC_000002.12:g.157761077C>T	-
ACVR1	Q04771	p.Gly356Asp	RCV000019972	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761077C>T	ClinVar
ACVR1	Q04771	p.Met360Val	rs1374008691	missense variant	-	NC_000002.12:g.157761066T>C	gnomAD
ACVR1	Q04771	p.Asn372Ser	rs1398213948	missense variant	-	NC_000002.12:g.157761029T>C	gnomAD
ACVR1	Q04771	p.Asn373Ser	rs1453500793	missense variant	-	NC_000002.12:g.157761026T>C	TOPMed
ACVR1	Q04771	p.Arg375Cys	rs751000395	missense variant	-	NC_000002.12:g.157761021G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt,dbSNP
ACVR1	Q04771	p.Arg375Pro	VAR_058425	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	-	NC_000002.12:g.157761020C>G	-
ACVR1	Q04771	p.Arg375Pro	RCV000022433	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761020C>G	ClinVar
ACVR1	Q04771	p.Arg380Cys	rs984482376	missense variant	-	NC_000002.12:g.157761006G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Met382Val	rs1237577558	missense variant	-	NC_000002.12:g.157761000T>C	gnomAD
ACVR1	Q04771	p.Ala383Val	rs750147467	missense variant	-	NC_000002.12:g.157760996G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro384Ser	rs764912823	missense variant	-	NC_000002.12:g.157760994G>A	ExAC,gnomAD
ACVR1	Q04771	p.Glu385Lys	rs1034717563	missense variant	-	NC_000002.12:g.157760991C>T	TOPMed
ACVR1	Q04771	p.Ile391Val	rs1325715485	missense variant	-	NC_000002.12:g.157760973T>C	TOPMed
ACVR1	Q04771	p.Gln392Arg	rs753599813	missense variant	-	NC_000002.12:g.157760969T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392His	rs1282994566	missense variant	-	NC_000002.12:g.157760968C>G	gnomAD
ACVR1	Q04771	p.Gln392Leu	rs753599813	missense variant	-	NC_000002.12:g.157760969T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Pro	rs753599813	missense variant	-	NC_000002.12:g.157760969T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp394Asn	rs764053318	missense variant	-	NC_000002.12:g.157760964C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe396Ile	rs760693961	missense variant	-	NC_000002.12:g.157760958A>T	ExAC,gnomAD
ACVR1	Q04771	p.Asp397Asn	rs766633229	missense variant	-	NC_000002.12:g.157760955C>T	ExAC,gnomAD
ACVR1	Q04771	p.Tyr399Cys	rs1331769971	missense variant	-	NC_000002.12:g.157760948T>C	gnomAD
ACVR1	Q04771	p.Lys400Glu	rs1064796674	missense variant	-	NC_000002.12:g.157760946T>C	-
ACVR1	Q04771	p.Lys400Glu	RCV000478819	missense variant	-	NC_000002.12:g.157760946T>C	ClinVar
ACVR1	Q04771	p.Arg401Thr	rs1301730759	missense variant	-	NC_000002.12:g.157760942C>G	TOPMed
ACVR1	Q04771	p.Val402Phe	rs773531681	missense variant	-	NC_000002.12:g.157760940C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val402Ile	rs773531681	missense variant	-	NC_000002.12:g.157760940C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp403Asn	rs1314502834	missense variant	-	NC_000002.12:g.157760937C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ile404Ser	rs1417727949	missense variant	-	NC_000002.12:g.157760933A>C	gnomAD
ACVR1	Q04771	p.Ala415Asp	rs1389258569	missense variant	-	NC_000002.12:g.157760900G>T	gnomAD
ACVR1	Q04771	p.Arg417Gln	rs1366850999	missense variant	-	NC_000002.12:g.157760894C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Met418Thr	rs549634108	missense variant	-	NC_000002.12:g.157760891A>G	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>A	TOPMed,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn421Ser	rs769089859	missense variant	-	NC_000002.12:g.157760882T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile423Thr	rs1420336375	missense variant	-	NC_000002.12:g.157738567A>G	gnomAD
ACVR1	Q04771	p.Glu425Ala	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Glu425Gly	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Pro429Ser	rs761950656	missense variant	-	NC_000002.12:g.157738550G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro429Leu	rs568204852	missense variant	-	NC_000002.12:g.157738549G>A	1000Genomes
ACVR1	Q04771	p.Tyr432Cys	rs769079595	missense variant	-	NC_000002.12:g.157738540T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Gly	rs1026045983	missense variant	-	NC_000002.12:g.157738537T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Asn	rs776029462	missense variant	-	NC_000002.12:g.157738538C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro436Ser	rs1262652803	missense variant	-	NC_000002.12:g.157738529G>A	TOPMed
ACVR1	Q04771	p.Asn437Ser	rs375101352	missense variant	-	NC_000002.12:g.157738525T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn437Asp	rs1216474559	missense variant	-	NC_000002.12:g.157738526T>C	gnomAD
ACVR1	Q04771	p.Ser440Gly	rs745343863	missense variant	-	NC_000002.12:g.157738517T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp443Asn	rs1329295647	missense variant	-	NC_000002.12:g.157738508C>T	gnomAD
ACVR1	Q04771	p.Met444Thr	rs1485718076	missense variant	-	NC_000002.12:g.157738504A>G	TOPMed
ACVR1	Q04771	p.Met444Ile	rs1325258776	missense variant	-	NC_000002.12:g.157738503C>T	gnomAD
ACVR1	Q04771	p.Met444Val	rs1243033111	missense variant	-	NC_000002.12:g.157738505T>C	TOPMed
ACVR1	Q04771	p.Arg445LysTerUnk	rs1462003079	stop gained	-	NC_000002.12:g.157738502_157738503insATTT	gnomAD
ACVR1	Q04771	p.Asp451Val	rs1477301509	missense variant	-	NC_000002.12:g.157738483T>A	gnomAD
ACVR1	Q04771	p.Gln452Leu	rs756022457	missense variant	-	NC_000002.12:g.157738480T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg454Gly	rs148153887	missense variant	-	NC_000002.12:g.157738475T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile457Lys	rs1244629836	missense variant	-	NC_000002.12:g.157738465A>T	gnomAD
ACVR1	Q04771	p.Ile457Val	rs781232217	missense variant	-	NC_000002.12:g.157738466T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp464Glu	RCV000399910	missense variant	-	NC_000002.12:g.157738443G>C	ClinVar
ACVR1	Q04771	p.Asp464Glu	rs886042941	missense variant	-	NC_000002.12:g.157738443G>C	gnomAD
ACVR1	Q04771	p.Pro465Leu	rs750457181	missense variant	-	NC_000002.12:g.157738441G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr466Ile	rs754926966	missense variant	-	NC_000002.12:g.157737664G>A	ExAC,gnomAD
ACVR1	Q04771	p.Thr468Ala	rs751515337	missense variant	-	NC_000002.12:g.157737659T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs145780526	missense variant	-	NC_000002.12:g.157737658G>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ile	rs145780526	missense variant	-	NC_000002.12:g.157737658G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs751515337	missense variant	-	NC_000002.12:g.157737659T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Cys	rs989403918	missense variant	-	NC_000002.12:g.157737655G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Ala	rs757333055	missense variant	-	NC_000002.12:g.157737656A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr479Cys	rs1178573933	missense variant	-	NC_000002.12:g.157737625T>C	gnomAD
ACVR1	Q04771	p.Pro482Thr	rs1161864114	missense variant	-	NC_000002.12:g.157737617G>T	gnomAD
ACVR1	Q04771	p.Ala484Thr	rs1256476437	missense variant	-	NC_000002.12:g.157737611C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Arg485Ser	rs767830176	missense variant	-	NC_000002.12:g.157737606T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg490His	rs554387941	missense variant	-	NC_000002.12:g.157737592C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg490Pro	rs554387941	missense variant	-	NC_000002.12:g.157737592C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile498Thr	rs1026520055	missense variant	-	NC_000002.12:g.157737568A>G	TOPMed
ACVR1	Q04771	p.Asp499Asn	rs1226764570	missense variant	-	NC_000002.12:g.157737566C>T	gnomAD
ACVR1	Q04771	p.Asp503Asn	rs769751827	missense variant	-	NC_000002.12:g.157737554C>T	gnomAD
ACVR1	Q04771	p.Asp508Ter	RCV000520774	nonsense	-	NC_000002.12:g.157737540dup	ClinVar
ACVR1	Q04771	p.Cys509Arg	rs747858448	missense variant	-	NC_000002.12:g.157737536A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val2Ile	rs1280889930	missense variant	-	NC_000002.12:g.157799490C>T	gnomAD
ACVR1	Q04771	p.Gly4Glu	rs1203606345	missense variant	-	NC_000002.12:g.157799483C>T	gnomAD
ACVR1	Q04771	p.Val5Met	rs756630764	missense variant	-	NC_000002.12:g.157799481C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro9Ser	rs753322618	missense variant	-	NC_000002.12:g.157799469G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile12Val	rs759017686	missense variant	-	NC_000002.12:g.157799460T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met13Arg	rs1315007491	missense variant	-	NC_000002.12:g.157799456A>C	gnomAD
ACVR1	Q04771	p.Ile14Phe	rs773936526	missense variant	-	NC_000002.12:g.157799454T>A	ExAC,gnomAD
ACVR1	Q04771	p.Ala15Gly	rs13406336	missense variant	-	NC_000002.12:g.157799450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala15Gly	RCV000350817	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157799450G>C	ClinVar
ACVR1	Q04771	p.Ser18Thr	rs745444504	missense variant	-	NC_000002.12:g.157799442A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Ala	rs745444504	missense variant	-	NC_000002.12:g.157799442A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Tyr	rs1383805044	missense variant	-	NC_000002.12:g.157799441G>T	gnomAD
ACVR1	Q04771	p.Pro19Ser	rs1158969294	missense variant	-	NC_000002.12:g.157799439G>A	gnomAD
ACVR1	Q04771	p.Ser20Asn	rs1383193990	missense variant	-	NC_000002.12:g.157799435C>T	gnomAD
ACVR1	Q04771	p.Met21Val	rs1170014341	missense variant	-	NC_000002.12:g.157799433T>C	TOPMed
ACVR1	Q04771	p.Glu22Gln	rs1473120013	missense variant	-	NC_000002.12:g.157799430C>G	gnomAD
ACVR1	Q04771	p.Lys25Arg	rs1157679779	missense variant	-	NC_000002.12:g.157780594T>C	TOPMed
ACVR1	Q04771	p.Pro26Ser	rs377197386	missense variant	-	NC_000002.12:g.157780592G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val28Phe	rs1426099891	missense variant	-	NC_000002.12:g.157780586C>A	TOPMed
ACVR1	Q04771	p.Asn29Ile	rs761642757	missense variant	-	NC_000002.12:g.157780582T>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro30Arg	rs1364644712	missense variant	-	NC_000002.12:g.157780579G>C	TOPMed
ACVR1	Q04771	p.Lys31Arg	rs547743970	missense variant	-	NC_000002.12:g.157780576T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu32Pro	rs373607071	missense variant	-	NC_000002.12:g.157780573A>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Tyr33Ter	rs201453468	stop gained	-	NC_000002.12:g.157780569G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met34Arg	rs757848830	missense variant	-	NC_000002.12:g.157780567A>C	ExAC,gnomAD
ACVR1	Q04771	p.Met34Val	rs370437421	missense variant	-	NC_000002.12:g.157780568T>C	ESP
ACVR1	Q04771	p.Met34Thr	rs757848830	missense variant	-	NC_000002.12:g.157780567A>G	ExAC,gnomAD
ACVR1	Q04771	p.Met34Lys	rs757848830	missense variant	-	NC_000002.12:g.157780567A>T	ExAC,gnomAD
ACVR1	Q04771	p.Val36Ala	rs377466501	missense variant	-	NC_000002.12:g.157780561A>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val36Glu	rs377466501	missense variant	-	NC_000002.12:g.157780561A>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly39Ser	rs983884500	missense variant	-	NC_000002.12:g.157780553C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	UniProt,dbSNP
ACVR1	Q04771	p.Ser41Phe	VAR_041393	missense variant	-	NC_000002.12:g.157780546G>A	UniProt
ACVR1	Q04771	p.Gly43Ser	rs112489929	missense variant	-	NC_000002.12:g.157780541C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn44Ser	rs1321405252	missense variant	-	NC_000002.12:g.157780537T>C	TOPMed
ACVR1	Q04771	p.Asn44His	rs1006682010	missense variant	-	NC_000002.12:g.157780538T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asp46Ala	rs1219780031	missense variant	-	NC_000002.12:g.157780531T>G	TOPMed
ACVR1	Q04771	p.His47Tyr	rs889434177	missense variant	-	NC_000002.12:g.157780529G>A	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	rs34056189	missense variant	-	NC_000002.12:g.157780527G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His47Asn	rs889434177	missense variant	-	NC_000002.12:g.157780529G>T	TOPMed,gnomAD
ACVR1	Q04771	p.His47Asp	rs889434177	missense variant	-	NC_000002.12:g.157780529G>C	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	RCV000406342	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157780527G>C	ClinVar
ACVR1	Q04771	p.Glu49Lys	rs1219953789	missense variant	-	NC_000002.12:g.157780523C>T	gnomAD
ACVR1	Q04771	p.Gln51His	rs1320913728	missense variant	-	NC_000002.12:g.157780515C>A	gnomAD
ACVR1	Q04771	p.Gln52His	rs1266976280	missense variant	-	NC_000002.12:g.157780512C>G	gnomAD
ACVR1	Q04771	p.Phe54Ser	rs1300205903	missense variant	-	NC_000002.12:g.157780507A>G	gnomAD
ACVR1	Q04771	p.Ser58Thr	rs779531410	missense variant	-	NC_000002.12:g.157780495C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile59Phe	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>A	gnomAD
ACVR1	Q04771	p.Ile59Val	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>C	gnomAD
ACVR1	Q04771	p.Asp61Asn	rs772534199	missense variant	-	NC_000002.12:g.157780487C>T	gnomAD
ACVR1	Q04771	p.Asp61Gly	rs748590407	missense variant	-	NC_000002.12:g.157780486T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Val	rs748590407	missense variant	-	NC_000002.12:g.157780486T>A	ExAC,gnomAD
ACVR1	Q04771	p.Phe63Ser	rs764818005	missense variant	-	NC_000002.12:g.157780480A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val65Ile	rs370028017	missense variant	-	NC_000002.12:g.157780475C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu75Gly	rs1176995618	missense variant	-	NC_000002.12:g.157780444T>C	gnomAD
ACVR1	Q04771	p.Gln76Pro	rs763961607	missense variant	-	NC_000002.12:g.157780441T>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln76Arg	rs763961607	missense variant	-	NC_000002.12:g.157780441T>C	ExAC,gnomAD
ACVR1	Q04771	p.Lys78Glu	rs1240600134	missense variant	-	NC_000002.12:g.157780436T>C	gnomAD
ACVR1	Q04771	p.Met79Ile	rs1403278698	missense variant	-	NC_000002.12:g.157780431C>T	TOPMed
ACVR1	Q04771	p.Lys82Glu	rs1354910596	missense variant	-	NC_000002.12:g.157780424T>C	TOPMed
ACVR1	Q04771	p.Pro84Gln	rs775537696	missense variant	-	NC_000002.12:g.157780417G>T	ExAC,gnomAD
ACVR1	Q04771	p.Pro84Leu	rs775537696	missense variant	-	NC_000002.12:g.157780417G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro85Leu	rs1329223493	missense variant	-	NC_000002.12:g.157780414G>A	TOPMed
ACVR1	Q04771	p.Ser86Phe	rs773459224	missense variant	-	NC_000002.12:g.157780411G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro87Leu	rs1036913529	missense variant	-	NC_000002.12:g.157780408G>A	TOPMed
ACVR1	Q04771	p.Gln89Arg	rs1033271814	missense variant	-	NC_000002.12:g.157780402T>C	TOPMed
ACVR1	Q04771	p.Ala90Thr	rs1377494192	missense variant	-	NC_000002.12:g.157780400C>T	gnomAD
ACVR1	Q04771	p.Gln95Arg	rs1367397338	missense variant	-	NC_000002.12:g.157780384T>C	gnomAD
ACVR1	Q04771	p.Gly96Arg	rs748419133	missense variant	-	NC_000002.12:g.157780382C>T	ExAC,gnomAD
ACVR1	Q04771	p.Gly96Glu	rs373678733	missense variant	-	NC_000002.12:g.157780381C>T	ESP
ACVR1	Q04771	p.Trp98Ter	rs769135409	stop gained	-	NC_000002.12:g.157780374C>T	ExAC,gnomAD
ACVR1	Q04771	p.Asn100Ser	rs747439148	missense variant	-	NC_000002.12:g.157780369T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Gly	rs780585007	missense variant	-	NC_000002.12:g.157780367T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Thr	rs369211520	missense variant	-	NC_000002.12:g.157780366C>G	ESP,TOPMed
ACVR1	Q04771	p.Thr104Met	rs758925804	missense variant	-	NC_000002.12:g.157780357G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln106His	rs376138658	missense variant	-	NC_000002.12:g.157780350C>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro108Ser	rs1423804322	missense variant	-	NC_000002.12:g.157780346G>A	gnomAD
ACVR1	Q04771	p.Lys112Asn	rs138808563	missense variant	-	NC_000002.12:g.157778338T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser113Thr	rs1303422236	missense variant	-	NC_000002.12:g.157778337A>T	TOPMed
ACVR1	Q04771	p.Pro115Ser	VAR_041395	Missense	-	-	UniProt
ACVR1	Q04771	p.His121Leu	rs1265994310	missense variant	-	NC_000002.12:g.157778312T>A	gnomAD
ACVR1	Q04771	p.His121Tyr	rs756858830	missense variant	-	NC_000002.12:g.157778313G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val124Phe	rs748870121	missense variant	-	NC_000002.12:g.157778304C>A	ExAC,gnomAD
ACVR1	Q04771	p.Val124Ala	rs1278430564	missense variant	-	NC_000002.12:g.157778303A>G	TOPMed
ACVR1	Q04771	p.Ile127Val	rs1277715491	missense variant	-	NC_000002.12:g.157778295T>C	gnomAD
ACVR1	Q04771	p.Ile128Phe	rs1400837052	missense variant	-	NC_000002.12:g.157778292T>A	gnomAD
ACVR1	Q04771	p.Leu129Phe	rs755755509	missense variant	-	NC_000002.12:g.157778289G>A	ExAC
ACVR1	Q04771	p.Ser130Phe	rs1342623415	missense variant	-	NC_000002.12:g.157778285G>A	gnomAD
ACVR1	Q04771	p.Val131Ile	rs767431486	missense variant	-	NC_000002.12:g.157778283C>T	ExAC,gnomAD
ACVR1	Q04771	p.Val132Ala	rs74905152	missense variant	-	NC_000002.12:g.157778279A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe133Leu	rs1450825927	missense variant	-	NC_000002.12:g.157778277A>G	TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Ser	rs765195676	missense variant	-	NC_000002.12:g.157778274C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Thr	rs765195676	missense variant	-	NC_000002.12:g.157778274C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu141Pro	rs760813831	missense variant	-	NC_000002.12:g.157778252A>G	ExAC,gnomAD
ACVR1	Q04771	p.Val144Ala	rs775776209	missense variant	-	NC_000002.12:g.157778243A>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Ter	rs1267861432	stop gained	-	NC_000002.12:g.157778235G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Arg147Gln	rs373187352	missense variant	-	NC_000002.12:g.157778234C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe149Tyr	rs746369903	missense variant	-	NC_000002.12:g.157778228A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg151Trp	rs1381732329	missense variant	-	NC_000002.12:g.157778223T>A	TOPMed
ACVR1	Q04771	p.Arg152Cys	rs771363719	missense variant	-	NC_000002.12:g.157778220G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg152His	rs748791232	missense variant	-	NC_000002.12:g.157778219C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn153Asp	rs1281575126	missense variant	-	NC_000002.12:g.157778217T>C	gnomAD
ACVR1	Q04771	p.Gln154Lys	rs1232871090	missense variant	-	NC_000002.12:g.157778214G>T	gnomAD
ACVR1	Q04771	p.Glu155Gln	rs1332027312	missense variant	-	NC_000002.12:g.157778211C>G	gnomAD
ACVR1	Q04771	p.Arg156Leu	rs755732603	missense variant	-	NC_000002.12:g.157778207C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg156Cys	rs777150519	missense variant	-	NC_000002.12:g.157778208G>A	ExAC,TOPMed
ACVR1	Q04771	p.Arg156His	rs755732603	missense variant	-	NC_000002.12:g.157778207C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn158Ser	rs781127308	missense variant	-	NC_000002.12:g.157778201T>C	ExAC,gnomAD
ACVR1	Q04771	p.Pro159Ser	rs374836197	missense variant	-	NC_000002.12:g.157778199G>A	ESP
ACVR1	Q04771	p.Arg160Gly	rs188547477	missense variant	-	NC_000002.12:g.157778196G>C	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Arg160Gln	rs751524299	missense variant	-	NC_000002.12:g.157778195C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp161Glu	rs766295467	missense variant	-	NC_000002.12:g.157778191G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val162Met	rs201452185	missense variant	-	NC_000002.12:g.157778190C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr164Ser	rs1377987645	missense variant	-	NC_000002.12:g.157778183T>G	gnomAD
ACVR1	Q04771	p.Gly165Asp	rs1269251512	missense variant	-	NC_000002.12:g.157778180C>T	gnomAD
ACVR1	Q04771	p.Glu168Lys	rs764097240	missense variant	-	NC_000002.12:g.157778172C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu170Phe	rs979341093	missense variant	-	NC_000002.12:g.157778166G>A	TOPMed
ACVR1	Q04771	p.Ile171Thr	rs1315491312	missense variant	-	NC_000002.12:g.157778162A>G	TOPMed
ACVR1	Q04771	p.Thr172Ser	rs145150729	missense variant	-	NC_000002.12:g.157778159G>C	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Thr173Ile	rs1199234423	missense variant	-	NC_000002.12:g.157778156G>A	gnomAD
ACVR1	Q04771	p.Asn174Ile	rs374178479	missense variant	-	NC_000002.12:g.157778153T>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Ser	rs374178479	missense variant	-	NC_000002.12:g.157778153T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Thr	rs374178479	missense variant	-	NC_000002.12:g.157778153T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser178Arg	rs759844485	missense variant	-	NC_000002.12:g.157778142T>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr179Ala	rs774729034	missense variant	-	NC_000002.12:g.157778139T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu183Val	rs767686530	missense variant	-	NC_000002.12:g.157774184A>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu184Phe	rs41265129	missense variant	-	NC_000002.12:g.157774179C>A	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.His186Arg	rs766710069	missense variant	-	NC_000002.12:g.157774174T>C	ExAC,gnomAD
ACVR1	Q04771	p.His186Tyr	rs751891766	missense variant	-	NC_000002.12:g.157774175G>A	ExAC,gnomAD
ACVR1	Q04771	p.Ser187Leu	rs146610930	missense variant	-	NC_000002.12:g.157774171G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys188Tyr	rs769402195	missense variant	-	NC_000002.12:g.157774168C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu196Pro	rs797045135	missense variant	-	NC_000002.12:g.157774144A>G	-
ACVR1	Q04771	p.Leu196Pro	RCV000190876	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774144A>G	ClinVar
ACVR1	Q04771	p.Pro197_Phe198delinsLeu	VAR_058418	deletion_insertion	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Arg202Ile	RCV000022434	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774126C>A	ClinVar
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	-	NC_000002.12:g.157774126C>A	-
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt,dbSNP
ACVR1	Q04771	p.Arg202Ile	VAR_058419	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt
ACVR1	Q04771	p.Thr203Arg	rs1040973331	missense variant	-	NC_000002.12:g.157774123G>C	TOPMed
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt,dbSNP
ACVR1	Q04771	p.Arg206His	VAR_028444	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt
ACVR1	Q04771	p.Arg206Pro	rs121912678	missense variant	-	NC_000002.12:g.157774114C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	-	NC_000002.12:g.157774114C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	RCV000019971	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	RCV000422441	missense variant	-	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Gln207Pro	rs779886918	missense variant	-	NC_000002.12:g.157774111T>G	ExAC
ACVR1	Q04771	p.Gln207His	rs771829967	missense variant	-	NC_000002.12:g.157774110C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207Glu	VAR_058420	Missense	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Glu212Asp	rs201872272	missense variant	-	NC_000002.12:g.157774095C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	rs778765499	missense variant	-	NC_000002.12:g.157774093C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Ser	rs778765499	missense variant	-	NC_000002.12:g.157774093C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	RCV000658878	missense variant	-	NC_000002.12:g.157774093C>T	ClinVar
ACVR1	Q04771	p.Lys216Asn	rs1396618797	missense variant	-	NC_000002.12:g.157770510T>A	TOPMed,gnomAD
ACVR1	Q04771	p.Tyr219Cys	rs1198591575	missense variant	-	NC_000002.12:g.157770502T>C	TOPMed
ACVR1	Q04771	p.Trp223Ter	rs1465199127	stop gained	-	NC_000002.12:g.157770490C>T	gnomAD
ACVR1	Q04771	p.Ser226Asn	rs1401182199	missense variant	-	NC_000002.12:g.157770481C>T	gnomAD
ACVR1	Q04771	p.Ser226Gly	rs902199134	missense variant	-	NC_000002.12:g.157770482T>C	TOPMed
ACVR1	Q04771	p.Gln228His	rs1271017134	missense variant	-	NC_000002.12:g.157770474T>G	gnomAD
ACVR1	Q04771	p.Gly229Glu	rs770796956	missense variant	-	NC_000002.12:g.157770472C>T	ExAC,gnomAD
ACVR1	Q04771	p.Glu230Gly	rs749279563	missense variant	-	NC_000002.12:g.157770469T>C	ExAC,gnomAD
ACVR1	Q04771	p.Val234Met	rs1198616498	missense variant	-	NC_000002.12:g.157770458C>T	gnomAD
ACVR1	Q04771	p.Ile236Leu	rs747230014	missense variant	-	NC_000002.12:g.157770452T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Ser	rs750691291	missense variant	-	NC_000002.12:g.157770440G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Cys	rs750691291	missense variant	-	NC_000002.12:g.157770440G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Trp245Leu	rs765713093	missense variant	-	NC_000002.12:g.157770424C>A	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs765713093	stop gained	-	NC_000002.12:g.157770424C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs757827984	stop gained	-	NC_000002.12:g.157770423C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Tyr	rs763667205	missense variant	-	NC_000002.12:g.157770421A>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Leu	rs754465233	missense variant	-	NC_000002.12:g.157770422A>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr249Met	rs760152551	missense variant	-	NC_000002.12:g.157770412G>A	ExAC,gnomAD
ACVR1	Q04771	p.Val255Leu	rs1177191263	missense variant	-	NC_000002.12:g.157770395C>A	gnomAD
ACVR1	Q04771	p.Met256Arg	rs1236989443	missense variant	-	NC_000002.12:g.157770391A>C	TOPMed
ACVR1	Q04771	p.Arg258Gly	RCV000426913	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Met	rs1057519875	missense variant	-	NC_000002.12:g.157770385C>A	-
ACVR1	Q04771	p.Arg258Gly	rs863224846	missense variant	-	NC_000002.12:g.157770386T>C	gnomAD
ACVR1	Q04771	p.Arg258Ser	rs121912680	missense variant	-	NC_000002.12:g.157770384C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg258Gly	RCV000437179	missense variant	-	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000198218	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000426291	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000444963	missense variant	-	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Ser	RCV000019973	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770384C>G	ClinVar
ACVR1	Q04771	p.Phe265Ile	rs752089024	missense variant	-	NC_000002.12:g.157766194A>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile266Val	rs767113095	missense variant	-	NC_000002.12:g.157766191T>C	ExAC
ACVR1	Q04771	p.Asp269Asn	rs1254939246	missense variant	-	NC_000002.12:g.157766182C>T	gnomAD
ACVR1	Q04771	p.Thr271Ala	rs1188212622	missense variant	-	NC_000002.12:g.157766176T>C	gnomAD
ACVR1	Q04771	p.His274Tyr	rs375487177	missense variant	-	NC_000002.12:g.157766167G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His274Tyr	RCV000266265	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766167G>A	ClinVar
ACVR1	Q04771	p.Ser276Asn	rs1260691632	missense variant	-	NC_000002.12:g.157766160C>T	TOPMed,gnomAD
ACVR1	Q04771	p.His286Asn	rs766136409	missense variant	-	NC_000002.12:g.157766131G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met288Leu	rs762684873	missense variant	-	NC_000002.12:g.157766125T>G	ExAC,gnomAD
ACVR1	Q04771	p.Met288Val	rs762684873	missense variant	-	NC_000002.12:g.157766125T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu291Met	rs1403640582	missense variant	-	NC_000002.12:g.157766116A>T	gnomAD
ACVR1	Q04771	p.Gln296Glu	rs1297924053	missense variant	-	NC_000002.12:g.157766101G>C	gnomAD
ACVR1	Q04771	p.Thr298Ser	rs772263790	missense variant	-	NC_000002.12:g.157766094G>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr299Ser	rs746058852	missense variant	-	NC_000002.12:g.157766091G>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr302Ile	rs779328796	missense variant	-	NC_000002.12:g.157766082G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser304Asn	rs771301363	missense variant	-	NC_000002.12:g.157766076C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ser304Ile	rs771301363	missense variant	-	NC_000002.12:g.157766076C>A	ExAC,gnomAD
ACVR1	Q04771	p.Cys305Ser	rs377300823	missense variant	-	NC_000002.12:g.157766073C>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Arg307Ter	rs778212213	stop gained	-	NC_000002.12:g.157766068G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg307Leu	rs766547414	missense variant	-	NC_000002.12:g.157766067C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Gln	rs766547414	missense variant	-	NC_000002.12:g.157766067C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln327Glu	rs1184040818	missense variant	-	NC_000002.12:g.157766008G>C	gnomAD
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Trp	VAR_058423	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	-	NC_000002.12:g.157766005C>A	-
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Glu	VAR_058421	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Arg	VAR_058422	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	-	NC_000002.12:g.157766005C>T	-
ACVR1	Q04771	p.Gly328Val	RCV000445088	missense variant	-	NC_000002.12:g.157766004C>A	ClinVar
ACVR1	Q04771	p.Gly328Arg	RCV000022430	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>T	ClinVar
ACVR1	Q04771	p.Gly328Trp	RCV000022431	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>A	ClinVar
ACVR1	Q04771	p.Gly328Glu	RCV000624246	missense variant	Inborn genetic diseases	NC_000002.12:g.157766004C>T	ClinVar
ACVR1	Q04771	p.Lys329Asn	rs1207985115	missense variant	-	NC_000002.12:g.157766000T>G	gnomAD
ACVR1	Q04771	p.Lys329Ter	rs934382490	stop gained	-	NC_000002.12:g.157766002T>A	TOPMed
ACVR1	Q04771	p.Pro330Ala	rs1471307549	missense variant	-	NC_000002.12:g.157765999G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ala331Ser	rs1273830277	missense variant	-	NC_000002.12:g.157765996C>A	gnomAD
ACVR1	Q04771	p.Ile332Val	rs1215662062	missense variant	-	NC_000002.12:g.157765993T>C	gnomAD
ACVR1	Q04771	p.Arg335Gln	rs1316254232	missense variant	-	NC_000002.12:g.157765983C>T	gnomAD
ACVR1	Q04771	p.Val344Gly	rs1328556577	missense variant	-	NC_000002.12:g.157765956A>C	gnomAD
ACVR1	Q04771	p.Lys345Arg	rs1299645908	missense variant	-	NC_000002.12:g.157765953T>C	gnomAD
ACVR1	Q04771	p.Lys346Asn	rs144048685	missense variant	-	NC_000002.12:g.157765949C>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile352Val	rs1325945796	missense variant	-	NC_000002.12:g.157765933T>C	gnomAD
ACVR1	Q04771	p.Leu355Phe	rs1397562603	missense variant	-	NC_000002.12:g.157765922C>G	gnomAD
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly356Asp	VAR_058424	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	-	NC_000002.12:g.157761077C>T	-
ACVR1	Q04771	p.Gly356Asp	RCV000019972	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761077C>T	ClinVar
ACVR1	Q04771	p.Met360Val	rs1374008691	missense variant	-	NC_000002.12:g.157761066T>C	gnomAD
ACVR1	Q04771	p.Asn372Ser	rs1398213948	missense variant	-	NC_000002.12:g.157761029T>C	gnomAD
ACVR1	Q04771	p.Asn373Ser	rs1453500793	missense variant	-	NC_000002.12:g.157761026T>C	TOPMed
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	-	NC_000002.12:g.157761020C>G	-
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt,dbSNP
ACVR1	Q04771	p.Arg375Pro	VAR_058425	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt
ACVR1	Q04771	p.Arg375Cys	rs751000395	missense variant	-	NC_000002.12:g.157761021G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg375Pro	RCV000022433	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761020C>G	ClinVar
ACVR1	Q04771	p.Arg380Cys	rs984482376	missense variant	-	NC_000002.12:g.157761006G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Met382Val	rs1237577558	missense variant	-	NC_000002.12:g.157761000T>C	gnomAD
ACVR1	Q04771	p.Ala383Val	rs750147467	missense variant	-	NC_000002.12:g.157760996G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro384Ser	rs764912823	missense variant	-	NC_000002.12:g.157760994G>A	ExAC,gnomAD
ACVR1	Q04771	p.Glu385Lys	rs1034717563	missense variant	-	NC_000002.12:g.157760991C>T	TOPMed
ACVR1	Q04771	p.Ile391Val	rs1325715485	missense variant	-	NC_000002.12:g.157760973T>C	TOPMed
ACVR1	Q04771	p.Gln392His	rs1282994566	missense variant	-	NC_000002.12:g.157760968C>G	gnomAD
ACVR1	Q04771	p.Gln392Arg	rs753599813	missense variant	-	NC_000002.12:g.157760969T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Pro	rs753599813	missense variant	-	NC_000002.12:g.157760969T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Leu	rs753599813	missense variant	-	NC_000002.12:g.157760969T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp394Asn	rs764053318	missense variant	-	NC_000002.12:g.157760964C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe396Ile	rs760693961	missense variant	-	NC_000002.12:g.157760958A>T	ExAC,gnomAD
ACVR1	Q04771	p.Asp397Asn	rs766633229	missense variant	-	NC_000002.12:g.157760955C>T	ExAC,gnomAD
ACVR1	Q04771	p.Tyr399Cys	rs1331769971	missense variant	-	NC_000002.12:g.157760948T>C	gnomAD
ACVR1	Q04771	p.Lys400Glu	rs1064796674	missense variant	-	NC_000002.12:g.157760946T>C	-
ACVR1	Q04771	p.Lys400Glu	RCV000478819	missense variant	-	NC_000002.12:g.157760946T>C	ClinVar
ACVR1	Q04771	p.Arg401Thr	rs1301730759	missense variant	-	NC_000002.12:g.157760942C>G	TOPMed
ACVR1	Q04771	p.Val402Phe	rs773531681	missense variant	-	NC_000002.12:g.157760940C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val402Ile	rs773531681	missense variant	-	NC_000002.12:g.157760940C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp403Asn	rs1314502834	missense variant	-	NC_000002.12:g.157760937C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ile404Ser	rs1417727949	missense variant	-	NC_000002.12:g.157760933A>C	gnomAD
ACVR1	Q04771	p.Ala415Asp	rs1389258569	missense variant	-	NC_000002.12:g.157760900G>T	gnomAD
ACVR1	Q04771	p.Arg417Gln	rs1366850999	missense variant	-	NC_000002.12:g.157760894C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Met418Thr	rs549634108	missense variant	-	NC_000002.12:g.157760891A>G	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>A	TOPMed,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn421Ser	rs769089859	missense variant	-	NC_000002.12:g.157760882T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile423Thr	rs1420336375	missense variant	-	NC_000002.12:g.157738567A>G	gnomAD
ACVR1	Q04771	p.Glu425Gly	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Glu425Ala	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Pro429Leu	rs568204852	missense variant	-	NC_000002.12:g.157738549G>A	1000Genomes
ACVR1	Q04771	p.Pro429Ser	rs761950656	missense variant	-	NC_000002.12:g.157738550G>A	ExAC,gnomAD
ACVR1	Q04771	p.Tyr432Cys	rs769079595	missense variant	-	NC_000002.12:g.157738540T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Asn	rs776029462	missense variant	-	NC_000002.12:g.157738538C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Gly	rs1026045983	missense variant	-	NC_000002.12:g.157738537T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Pro436Ser	rs1262652803	missense variant	-	NC_000002.12:g.157738529G>A	TOPMed
ACVR1	Q04771	p.Asn437Asp	rs1216474559	missense variant	-	NC_000002.12:g.157738526T>C	gnomAD
ACVR1	Q04771	p.Asn437Ser	rs375101352	missense variant	-	NC_000002.12:g.157738525T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser440Gly	rs745343863	missense variant	-	NC_000002.12:g.157738517T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp443Asn	rs1329295647	missense variant	-	NC_000002.12:g.157738508C>T	gnomAD
ACVR1	Q04771	p.Met444Thr	rs1485718076	missense variant	-	NC_000002.12:g.157738504A>G	TOPMed
ACVR1	Q04771	p.Met444Ile	rs1325258776	missense variant	-	NC_000002.12:g.157738503C>T	gnomAD
ACVR1	Q04771	p.Met444Val	rs1243033111	missense variant	-	NC_000002.12:g.157738505T>C	TOPMed
ACVR1	Q04771	p.Arg445LysTerUnk	rs1462003079	stop gained	-	NC_000002.12:g.157738502_157738503insATTT	gnomAD
ACVR1	Q04771	p.Asp451Val	rs1477301509	missense variant	-	NC_000002.12:g.157738483T>A	gnomAD
ACVR1	Q04771	p.Gln452Leu	rs756022457	missense variant	-	NC_000002.12:g.157738480T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg454Gly	rs148153887	missense variant	-	NC_000002.12:g.157738475T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile457Val	rs781232217	missense variant	-	NC_000002.12:g.157738466T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile457Lys	rs1244629836	missense variant	-	NC_000002.12:g.157738465A>T	gnomAD
ACVR1	Q04771	p.Asp464Glu	RCV000399910	missense variant	-	NC_000002.12:g.157738443G>C	ClinVar
ACVR1	Q04771	p.Asp464Glu	rs886042941	missense variant	-	NC_000002.12:g.157738443G>C	gnomAD
ACVR1	Q04771	p.Pro465Leu	rs750457181	missense variant	-	NC_000002.12:g.157738441G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr466Ile	rs754926966	missense variant	-	NC_000002.12:g.157737664G>A	ExAC,gnomAD
ACVR1	Q04771	p.Thr468Ile	rs145780526	missense variant	-	NC_000002.12:g.157737658G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ala	rs751515337	missense variant	-	NC_000002.12:g.157737659T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs145780526	missense variant	-	NC_000002.12:g.157737658G>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs751515337	missense variant	-	NC_000002.12:g.157737659T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Cys	rs989403918	missense variant	-	NC_000002.12:g.157737655G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Ala	rs757333055	missense variant	-	NC_000002.12:g.157737656A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr479Cys	rs1178573933	missense variant	-	NC_000002.12:g.157737625T>C	gnomAD
ACVR1	Q04771	p.Pro482Thr	rs1161864114	missense variant	-	NC_000002.12:g.157737617G>T	gnomAD
ACVR1	Q04771	p.Ala484Thr	rs1256476437	missense variant	-	NC_000002.12:g.157737611C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Arg485Ser	rs767830176	missense variant	-	NC_000002.12:g.157737606T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg490Pro	rs554387941	missense variant	-	NC_000002.12:g.157737592C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg490His	rs554387941	missense variant	-	NC_000002.12:g.157737592C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile498Thr	rs1026520055	missense variant	-	NC_000002.12:g.157737568A>G	TOPMed
ACVR1	Q04771	p.Asp499Asn	rs1226764570	missense variant	-	NC_000002.12:g.157737566C>T	gnomAD
ACVR1	Q04771	p.Asp503Asn	rs769751827	missense variant	-	NC_000002.12:g.157737554C>T	gnomAD
ACVR1	Q04771	p.Asp508Ter	RCV000520774	nonsense	-	NC_000002.12:g.157737540dup	ClinVar
ACVR1	Q04771	p.Cys509Arg	rs747858448	missense variant	-	NC_000002.12:g.157737536A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val2Ile	rs1280889930	missense variant	-	NC_000002.12:g.157799490C>T	gnomAD
ACVR1	Q04771	p.Gly4Glu	rs1203606345	missense variant	-	NC_000002.12:g.157799483C>T	gnomAD
ACVR1	Q04771	p.Val5Met	rs756630764	missense variant	-	NC_000002.12:g.157799481C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro9Ser	rs753322618	missense variant	-	NC_000002.12:g.157799469G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile12Val	rs759017686	missense variant	-	NC_000002.12:g.157799460T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met13Arg	rs1315007491	missense variant	-	NC_000002.12:g.157799456A>C	gnomAD
ACVR1	Q04771	p.Ile14Phe	rs773936526	missense variant	-	NC_000002.12:g.157799454T>A	ExAC,gnomAD
ACVR1	Q04771	p.Ala15Gly	RCV000350817	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157799450G>C	ClinVar
ACVR1	Q04771	p.Ala15Gly	rs13406336	missense variant	-	NC_000002.12:g.157799450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Thr	rs745444504	missense variant	-	NC_000002.12:g.157799442A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Ala	rs745444504	missense variant	-	NC_000002.12:g.157799442A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Tyr	rs1383805044	missense variant	-	NC_000002.12:g.157799441G>T	gnomAD
ACVR1	Q04771	p.Pro19Ser	rs1158969294	missense variant	-	NC_000002.12:g.157799439G>A	gnomAD
ACVR1	Q04771	p.Ser20Asn	rs1383193990	missense variant	-	NC_000002.12:g.157799435C>T	gnomAD
ACVR1	Q04771	p.Met21Val	rs1170014341	missense variant	-	NC_000002.12:g.157799433T>C	TOPMed
ACVR1	Q04771	p.Glu22Gln	rs1473120013	missense variant	-	NC_000002.12:g.157799430C>G	gnomAD
ACVR1	Q04771	p.Lys25Arg	rs1157679779	missense variant	-	NC_000002.12:g.157780594T>C	TOPMed
ACVR1	Q04771	p.Pro26Ser	rs377197386	missense variant	-	NC_000002.12:g.157780592G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val28Phe	rs1426099891	missense variant	-	NC_000002.12:g.157780586C>A	TOPMed
ACVR1	Q04771	p.Asn29Ile	rs761642757	missense variant	-	NC_000002.12:g.157780582T>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro30Arg	rs1364644712	missense variant	-	NC_000002.12:g.157780579G>C	TOPMed
ACVR1	Q04771	p.Lys31Arg	rs547743970	missense variant	-	NC_000002.12:g.157780576T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu32Pro	rs373607071	missense variant	-	NC_000002.12:g.157780573A>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Tyr33Ter	rs201453468	stop gained	-	NC_000002.12:g.157780569G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met34Arg	rs757848830	missense variant	-	NC_000002.12:g.157780567A>C	ExAC,gnomAD
ACVR1	Q04771	p.Met34Val	rs370437421	missense variant	-	NC_000002.12:g.157780568T>C	ESP
ACVR1	Q04771	p.Met34Lys	rs757848830	missense variant	-	NC_000002.12:g.157780567A>T	ExAC,gnomAD
ACVR1	Q04771	p.Met34Thr	rs757848830	missense variant	-	NC_000002.12:g.157780567A>G	ExAC,gnomAD
ACVR1	Q04771	p.Val36Ala	rs377466501	missense variant	-	NC_000002.12:g.157780561A>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val36Glu	rs377466501	missense variant	-	NC_000002.12:g.157780561A>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly39Ser	rs983884500	missense variant	-	NC_000002.12:g.157780553C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	UniProt,dbSNP
ACVR1	Q04771	p.Ser41Phe	VAR_041393	missense variant	-	NC_000002.12:g.157780546G>A	UniProt
ACVR1	Q04771	p.Gly43Ser	rs112489929	missense variant	-	NC_000002.12:g.157780541C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn44His	rs1006682010	missense variant	-	NC_000002.12:g.157780538T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn44Ser	rs1321405252	missense variant	-	NC_000002.12:g.157780537T>C	TOPMed
ACVR1	Q04771	p.Asp46Ala	rs1219780031	missense variant	-	NC_000002.12:g.157780531T>G	TOPMed
ACVR1	Q04771	p.His47Asn	rs889434177	missense variant	-	NC_000002.12:g.157780529G>T	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	rs34056189	missense variant	-	NC_000002.12:g.157780527G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His47Asp	rs889434177	missense variant	-	NC_000002.12:g.157780529G>C	TOPMed,gnomAD
ACVR1	Q04771	p.His47Tyr	rs889434177	missense variant	-	NC_000002.12:g.157780529G>A	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	RCV000406342	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157780527G>C	ClinVar
ACVR1	Q04771	p.Glu49Lys	rs1219953789	missense variant	-	NC_000002.12:g.157780523C>T	gnomAD
ACVR1	Q04771	p.Gln51His	rs1320913728	missense variant	-	NC_000002.12:g.157780515C>A	gnomAD
ACVR1	Q04771	p.Gln52His	rs1266976280	missense variant	-	NC_000002.12:g.157780512C>G	gnomAD
ACVR1	Q04771	p.Phe54Ser	rs1300205903	missense variant	-	NC_000002.12:g.157780507A>G	gnomAD
ACVR1	Q04771	p.Ser58Thr	rs779531410	missense variant	-	NC_000002.12:g.157780495C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile59Phe	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>A	gnomAD
ACVR1	Q04771	p.Ile59Val	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>C	gnomAD
ACVR1	Q04771	p.Asp61Gly	rs748590407	missense variant	-	NC_000002.12:g.157780486T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Val	rs748590407	missense variant	-	NC_000002.12:g.157780486T>A	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Asn	rs772534199	missense variant	-	NC_000002.12:g.157780487C>T	gnomAD
ACVR1	Q04771	p.Phe63Ser	rs764818005	missense variant	-	NC_000002.12:g.157780480A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val65Ile	rs370028017	missense variant	-	NC_000002.12:g.157780475C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu75Gly	rs1176995618	missense variant	-	NC_000002.12:g.157780444T>C	gnomAD
ACVR1	Q04771	p.Gln76Pro	rs763961607	missense variant	-	NC_000002.12:g.157780441T>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln76Arg	rs763961607	missense variant	-	NC_000002.12:g.157780441T>C	ExAC,gnomAD
ACVR1	Q04771	p.Lys78Glu	rs1240600134	missense variant	-	NC_000002.12:g.157780436T>C	gnomAD
ACVR1	Q04771	p.Met79Ile	rs1403278698	missense variant	-	NC_000002.12:g.157780431C>T	TOPMed
ACVR1	Q04771	p.Lys82Glu	rs1354910596	missense variant	-	NC_000002.12:g.157780424T>C	TOPMed
ACVR1	Q04771	p.Pro84Gln	rs775537696	missense variant	-	NC_000002.12:g.157780417G>T	ExAC,gnomAD
ACVR1	Q04771	p.Pro84Leu	rs775537696	missense variant	-	NC_000002.12:g.157780417G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro85Leu	rs1329223493	missense variant	-	NC_000002.12:g.157780414G>A	TOPMed
ACVR1	Q04771	p.Ser86Phe	rs773459224	missense variant	-	NC_000002.12:g.157780411G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro87Leu	rs1036913529	missense variant	-	NC_000002.12:g.157780408G>A	TOPMed
ACVR1	Q04771	p.Gln89Arg	rs1033271814	missense variant	-	NC_000002.12:g.157780402T>C	TOPMed
ACVR1	Q04771	p.Ala90Thr	rs1377494192	missense variant	-	NC_000002.12:g.157780400C>T	gnomAD
ACVR1	Q04771	p.Gln95Arg	rs1367397338	missense variant	-	NC_000002.12:g.157780384T>C	gnomAD
ACVR1	Q04771	p.Gly96Arg	rs748419133	missense variant	-	NC_000002.12:g.157780382C>T	ExAC,gnomAD
ACVR1	Q04771	p.Gly96Glu	rs373678733	missense variant	-	NC_000002.12:g.157780381C>T	ESP
ACVR1	Q04771	p.Trp98Ter	rs769135409	stop gained	-	NC_000002.12:g.157780374C>T	ExAC,gnomAD
ACVR1	Q04771	p.Asn100Ser	rs747439148	missense variant	-	NC_000002.12:g.157780369T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Thr	rs369211520	missense variant	-	NC_000002.12:g.157780366C>G	ESP,TOPMed
ACVR1	Q04771	p.Arg101Gly	rs780585007	missense variant	-	NC_000002.12:g.157780367T>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr104Met	rs758925804	missense variant	-	NC_000002.12:g.157780357G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln106His	rs376138658	missense variant	-	NC_000002.12:g.157780350C>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro108Ser	rs1423804322	missense variant	-	NC_000002.12:g.157780346G>A	gnomAD
ACVR1	Q04771	p.Lys112Asn	rs138808563	missense variant	-	NC_000002.12:g.157778338T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser113Thr	rs1303422236	missense variant	-	NC_000002.12:g.157778337A>T	TOPMed
ACVR1	Q04771	p.Pro115Ser	VAR_041395	Missense	-	-	UniProt
ACVR1	Q04771	p.His121Leu	rs1265994310	missense variant	-	NC_000002.12:g.157778312T>A	gnomAD
ACVR1	Q04771	p.His121Tyr	rs756858830	missense variant	-	NC_000002.12:g.157778313G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val124Ala	rs1278430564	missense variant	-	NC_000002.12:g.157778303A>G	TOPMed
ACVR1	Q04771	p.Val124Phe	rs748870121	missense variant	-	NC_000002.12:g.157778304C>A	ExAC,gnomAD
ACVR1	Q04771	p.Ile127Val	rs1277715491	missense variant	-	NC_000002.12:g.157778295T>C	gnomAD
ACVR1	Q04771	p.Ile128Phe	rs1400837052	missense variant	-	NC_000002.12:g.157778292T>A	gnomAD
ACVR1	Q04771	p.Leu129Phe	rs755755509	missense variant	-	NC_000002.12:g.157778289G>A	ExAC
ACVR1	Q04771	p.Ser130Phe	rs1342623415	missense variant	-	NC_000002.12:g.157778285G>A	gnomAD
ACVR1	Q04771	p.Val131Ile	rs767431486	missense variant	-	NC_000002.12:g.157778283C>T	ExAC,gnomAD
ACVR1	Q04771	p.Val132Ala	rs74905152	missense variant	-	NC_000002.12:g.157778279A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe133Leu	rs1450825927	missense variant	-	NC_000002.12:g.157778277A>G	TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Ser	rs765195676	missense variant	-	NC_000002.12:g.157778274C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Thr	rs765195676	missense variant	-	NC_000002.12:g.157778274C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu141Pro	rs760813831	missense variant	-	NC_000002.12:g.157778252A>G	ExAC,gnomAD
ACVR1	Q04771	p.Val144Ala	rs775776209	missense variant	-	NC_000002.12:g.157778243A>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Ter	rs1267861432	stop gained	-	NC_000002.12:g.157778235G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Arg147Gln	rs373187352	missense variant	-	NC_000002.12:g.157778234C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe149Tyr	rs746369903	missense variant	-	NC_000002.12:g.157778228A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg151Trp	rs1381732329	missense variant	-	NC_000002.12:g.157778223T>A	TOPMed
ACVR1	Q04771	p.Arg152His	rs748791232	missense variant	-	NC_000002.12:g.157778219C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg152Cys	rs771363719	missense variant	-	NC_000002.12:g.157778220G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn153Asp	rs1281575126	missense variant	-	NC_000002.12:g.157778217T>C	gnomAD
ACVR1	Q04771	p.Gln154Lys	rs1232871090	missense variant	-	NC_000002.12:g.157778214G>T	gnomAD
ACVR1	Q04771	p.Glu155Gln	rs1332027312	missense variant	-	NC_000002.12:g.157778211C>G	gnomAD
ACVR1	Q04771	p.Arg156His	rs755732603	missense variant	-	NC_000002.12:g.157778207C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg156Cys	rs777150519	missense variant	-	NC_000002.12:g.157778208G>A	ExAC,TOPMed
ACVR1	Q04771	p.Arg156Leu	rs755732603	missense variant	-	NC_000002.12:g.157778207C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn158Ser	rs781127308	missense variant	-	NC_000002.12:g.157778201T>C	ExAC,gnomAD
ACVR1	Q04771	p.Pro159Ser	rs374836197	missense variant	-	NC_000002.12:g.157778199G>A	ESP
ACVR1	Q04771	p.Arg160Gln	rs751524299	missense variant	-	NC_000002.12:g.157778195C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg160Gly	rs188547477	missense variant	-	NC_000002.12:g.157778196G>C	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Asp161Glu	rs766295467	missense variant	-	NC_000002.12:g.157778191G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val162Met	rs201452185	missense variant	-	NC_000002.12:g.157778190C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr164Ser	rs1377987645	missense variant	-	NC_000002.12:g.157778183T>G	gnomAD
ACVR1	Q04771	p.Gly165Asp	rs1269251512	missense variant	-	NC_000002.12:g.157778180C>T	gnomAD
ACVR1	Q04771	p.Glu168Lys	rs764097240	missense variant	-	NC_000002.12:g.157778172C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu170Phe	rs979341093	missense variant	-	NC_000002.12:g.157778166G>A	TOPMed
ACVR1	Q04771	p.Ile171Thr	rs1315491312	missense variant	-	NC_000002.12:g.157778162A>G	TOPMed
ACVR1	Q04771	p.Thr172Ser	rs145150729	missense variant	-	NC_000002.12:g.157778159G>C	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Thr173Ile	rs1199234423	missense variant	-	NC_000002.12:g.157778156G>A	gnomAD
ACVR1	Q04771	p.Asn174Ser	rs374178479	missense variant	-	NC_000002.12:g.157778153T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Thr	rs374178479	missense variant	-	NC_000002.12:g.157778153T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Ile	rs374178479	missense variant	-	NC_000002.12:g.157778153T>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser178Arg	rs759844485	missense variant	-	NC_000002.12:g.157778142T>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr179Ala	rs774729034	missense variant	-	NC_000002.12:g.157778139T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu183Val	rs767686530	missense variant	-	NC_000002.12:g.157774184A>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu184Phe	rs41265129	missense variant	-	NC_000002.12:g.157774179C>A	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.His186Tyr	rs751891766	missense variant	-	NC_000002.12:g.157774175G>A	ExAC,gnomAD
ACVR1	Q04771	p.His186Arg	rs766710069	missense variant	-	NC_000002.12:g.157774174T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ser187Leu	rs146610930	missense variant	-	NC_000002.12:g.157774171G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys188Tyr	rs769402195	missense variant	-	NC_000002.12:g.157774168C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu196Pro	rs797045135	missense variant	-	NC_000002.12:g.157774144A>G	-
ACVR1	Q04771	p.Leu196Pro	RCV000190876	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774144A>G	ClinVar
ACVR1	Q04771	p.Pro197_Phe198delinsLeu	VAR_058418	deletion_insertion	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Arg202Ile	RCV000022434	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774126C>A	ClinVar
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	-	NC_000002.12:g.157774126C>A	-
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt,dbSNP
ACVR1	Q04771	p.Arg202Ile	VAR_058419	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt
ACVR1	Q04771	p.Thr203Arg	rs1040973331	missense variant	-	NC_000002.12:g.157774123G>C	TOPMed
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt,dbSNP
ACVR1	Q04771	p.Arg206His	VAR_028444	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt
ACVR1	Q04771	p.Arg206Pro	rs121912678	missense variant	-	NC_000002.12:g.157774114C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	-	NC_000002.12:g.157774114C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg206His	RCV000019971	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	RCV000422441	missense variant	-	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Gln207His	rs771829967	missense variant	-	NC_000002.12:g.157774110C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207Pro	rs779886918	missense variant	-	NC_000002.12:g.157774111T>G	ExAC
ACVR1	Q04771	p.Gln207Glu	VAR_058420	Missense	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Glu212Asp	rs201872272	missense variant	-	NC_000002.12:g.157774095C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	RCV000658878	missense variant	-	NC_000002.12:g.157774093C>T	ClinVar
ACVR1	Q04771	p.Cys213Ser	rs778765499	missense variant	-	NC_000002.12:g.157774093C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	rs778765499	missense variant	-	NC_000002.12:g.157774093C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Lys216Asn	rs1396618797	missense variant	-	NC_000002.12:g.157770510T>A	TOPMed,gnomAD
ACVR1	Q04771	p.Tyr219Cys	rs1198591575	missense variant	-	NC_000002.12:g.157770502T>C	TOPMed
ACVR1	Q04771	p.Trp223Ter	rs1465199127	stop gained	-	NC_000002.12:g.157770490C>T	gnomAD
ACVR1	Q04771	p.Ser226Gly	rs902199134	missense variant	-	NC_000002.12:g.157770482T>C	TOPMed
ACVR1	Q04771	p.Ser226Asn	rs1401182199	missense variant	-	NC_000002.12:g.157770481C>T	gnomAD
ACVR1	Q04771	p.Gln228His	rs1271017134	missense variant	-	NC_000002.12:g.157770474T>G	gnomAD
ACVR1	Q04771	p.Gly229Glu	rs770796956	missense variant	-	NC_000002.12:g.157770472C>T	ExAC,gnomAD
ACVR1	Q04771	p.Glu230Gly	rs749279563	missense variant	-	NC_000002.12:g.157770469T>C	ExAC,gnomAD
ACVR1	Q04771	p.Val234Met	rs1198616498	missense variant	-	NC_000002.12:g.157770458C>T	gnomAD
ACVR1	Q04771	p.Ile236Leu	rs747230014	missense variant	-	NC_000002.12:g.157770452T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Cys	rs750691291	missense variant	-	NC_000002.12:g.157770440G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Ser	rs750691291	missense variant	-	NC_000002.12:g.157770440G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Trp245Leu	rs765713093	missense variant	-	NC_000002.12:g.157770424C>A	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs757827984	stop gained	-	NC_000002.12:g.157770423C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs765713093	stop gained	-	NC_000002.12:g.157770424C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Tyr	rs763667205	missense variant	-	NC_000002.12:g.157770421A>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Leu	rs754465233	missense variant	-	NC_000002.12:g.157770422A>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr249Met	rs760152551	missense variant	-	NC_000002.12:g.157770412G>A	ExAC,gnomAD
ACVR1	Q04771	p.Val255Leu	rs1177191263	missense variant	-	NC_000002.12:g.157770395C>A	gnomAD
ACVR1	Q04771	p.Met256Arg	rs1236989443	missense variant	-	NC_000002.12:g.157770391A>C	TOPMed
ACVR1	Q04771	p.Arg258Gly	RCV000198218	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000437179	missense variant	-	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	rs863224846	missense variant	-	NC_000002.12:g.157770386T>C	gnomAD
ACVR1	Q04771	p.Arg258Ser	rs121912680	missense variant	-	NC_000002.12:g.157770384C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg258Met	rs1057519875	missense variant	-	NC_000002.12:g.157770385C>A	-
ACVR1	Q04771	p.Arg258Gly	RCV000426913	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000426291	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000444963	missense variant	-	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Ser	RCV000019973	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770384C>G	ClinVar
ACVR1	Q04771	p.Phe265Ile	rs752089024	missense variant	-	NC_000002.12:g.157766194A>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile266Val	rs767113095	missense variant	-	NC_000002.12:g.157766191T>C	ExAC
ACVR1	Q04771	p.Asp269Asn	rs1254939246	missense variant	-	NC_000002.12:g.157766182C>T	gnomAD
ACVR1	Q04771	p.Thr271Ala	rs1188212622	missense variant	-	NC_000002.12:g.157766176T>C	gnomAD
ACVR1	Q04771	p.His274Tyr	rs375487177	missense variant	-	NC_000002.12:g.157766167G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His274Tyr	RCV000266265	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766167G>A	ClinVar
ACVR1	Q04771	p.Ser276Asn	rs1260691632	missense variant	-	NC_000002.12:g.157766160C>T	TOPMed,gnomAD
ACVR1	Q04771	p.His286Asn	rs766136409	missense variant	-	NC_000002.12:g.157766131G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met288Val	rs762684873	missense variant	-	NC_000002.12:g.157766125T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met288Leu	rs762684873	missense variant	-	NC_000002.12:g.157766125T>G	ExAC,gnomAD
ACVR1	Q04771	p.Leu291Met	rs1403640582	missense variant	-	NC_000002.12:g.157766116A>T	gnomAD
ACVR1	Q04771	p.Gln296Glu	rs1297924053	missense variant	-	NC_000002.12:g.157766101G>C	gnomAD
ACVR1	Q04771	p.Thr298Ser	rs772263790	missense variant	-	NC_000002.12:g.157766094G>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr299Ser	rs746058852	missense variant	-	NC_000002.12:g.157766091G>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr302Ile	rs779328796	missense variant	-	NC_000002.12:g.157766082G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser304Asn	rs771301363	missense variant	-	NC_000002.12:g.157766076C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ser304Ile	rs771301363	missense variant	-	NC_000002.12:g.157766076C>A	ExAC,gnomAD
ACVR1	Q04771	p.Cys305Ser	rs377300823	missense variant	-	NC_000002.12:g.157766073C>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Arg307Leu	rs766547414	missense variant	-	NC_000002.12:g.157766067C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Gln	rs766547414	missense variant	-	NC_000002.12:g.157766067C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Ter	rs778212213	stop gained	-	NC_000002.12:g.157766068G>A	ExAC,gnomAD
ACVR1	Q04771	p.Gln327Glu	rs1184040818	missense variant	-	NC_000002.12:g.157766008G>C	gnomAD
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Glu	VAR_058421	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Arg	VAR_058422	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	-	NC_000002.12:g.157766005C>T	-
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	-	NC_000002.12:g.157766005C>A	-
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Trp	VAR_058423	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt
ACVR1	Q04771	p.Gly328Val	RCV000445088	missense variant	-	NC_000002.12:g.157766004C>A	ClinVar
ACVR1	Q04771	p.Gly328Arg	RCV000022430	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>T	ClinVar
ACVR1	Q04771	p.Gly328Trp	RCV000022431	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>A	ClinVar
ACVR1	Q04771	p.Gly328Glu	RCV000624246	missense variant	Inborn genetic diseases	NC_000002.12:g.157766004C>T	ClinVar
ACVR1	Q04771	p.Lys329Ter	rs934382490	stop gained	-	NC_000002.12:g.157766002T>A	TOPMed
ACVR1	Q04771	p.Lys329Asn	rs1207985115	missense variant	-	NC_000002.12:g.157766000T>G	gnomAD
ACVR1	Q04771	p.Pro330Ala	rs1471307549	missense variant	-	NC_000002.12:g.157765999G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ala331Ser	rs1273830277	missense variant	-	NC_000002.12:g.157765996C>A	gnomAD
ACVR1	Q04771	p.Ile332Val	rs1215662062	missense variant	-	NC_000002.12:g.157765993T>C	gnomAD
ACVR1	Q04771	p.Arg335Gln	rs1316254232	missense variant	-	NC_000002.12:g.157765983C>T	gnomAD
ACVR1	Q04771	p.Val344Gly	rs1328556577	missense variant	-	NC_000002.12:g.157765956A>C	gnomAD
ACVR1	Q04771	p.Lys345Arg	rs1299645908	missense variant	-	NC_000002.12:g.157765953T>C	gnomAD
ACVR1	Q04771	p.Lys346Asn	rs144048685	missense variant	-	NC_000002.12:g.157765949C>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile352Val	rs1325945796	missense variant	-	NC_000002.12:g.157765933T>C	gnomAD
ACVR1	Q04771	p.Leu355Phe	rs1397562603	missense variant	-	NC_000002.12:g.157765922C>G	gnomAD
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	-	NC_000002.12:g.157761077C>T	-
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly356Asp	VAR_058424	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt
ACVR1	Q04771	p.Gly356Asp	RCV000019972	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761077C>T	ClinVar
ACVR1	Q04771	p.Met360Val	rs1374008691	missense variant	-	NC_000002.12:g.157761066T>C	gnomAD
ACVR1	Q04771	p.Asn372Ser	rs1398213948	missense variant	-	NC_000002.12:g.157761029T>C	gnomAD
ACVR1	Q04771	p.Asn373Ser	rs1453500793	missense variant	-	NC_000002.12:g.157761026T>C	TOPMed
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	-	NC_000002.12:g.157761020C>G	-
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt,dbSNP
ACVR1	Q04771	p.Arg375Pro	VAR_058425	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt
ACVR1	Q04771	p.Arg375Cys	rs751000395	missense variant	-	NC_000002.12:g.157761021G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg375Pro	RCV000022433	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761020C>G	ClinVar
ACVR1	Q04771	p.Arg380Cys	rs984482376	missense variant	-	NC_000002.12:g.157761006G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Met382Val	rs1237577558	missense variant	-	NC_000002.12:g.157761000T>C	gnomAD
ACVR1	Q04771	p.Ala383Val	rs750147467	missense variant	-	NC_000002.12:g.157760996G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro384Ser	rs764912823	missense variant	-	NC_000002.12:g.157760994G>A	ExAC,gnomAD
ACVR1	Q04771	p.Glu385Lys	rs1034717563	missense variant	-	NC_000002.12:g.157760991C>T	TOPMed
ACVR1	Q04771	p.Ile391Val	rs1325715485	missense variant	-	NC_000002.12:g.157760973T>C	TOPMed
ACVR1	Q04771	p.Gln392His	rs1282994566	missense variant	-	NC_000002.12:g.157760968C>G	gnomAD
ACVR1	Q04771	p.Gln392Arg	rs753599813	missense variant	-	NC_000002.12:g.157760969T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Leu	rs753599813	missense variant	-	NC_000002.12:g.157760969T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Pro	rs753599813	missense variant	-	NC_000002.12:g.157760969T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp394Asn	rs764053318	missense variant	-	NC_000002.12:g.157760964C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe396Ile	rs760693961	missense variant	-	NC_000002.12:g.157760958A>T	ExAC,gnomAD
ACVR1	Q04771	p.Asp397Asn	rs766633229	missense variant	-	NC_000002.12:g.157760955C>T	ExAC,gnomAD
ACVR1	Q04771	p.Tyr399Cys	rs1331769971	missense variant	-	NC_000002.12:g.157760948T>C	gnomAD
ACVR1	Q04771	p.Lys400Glu	rs1064796674	missense variant	-	NC_000002.12:g.157760946T>C	-
ACVR1	Q04771	p.Lys400Glu	RCV000478819	missense variant	-	NC_000002.12:g.157760946T>C	ClinVar
ACVR1	Q04771	p.Arg401Thr	rs1301730759	missense variant	-	NC_000002.12:g.157760942C>G	TOPMed
ACVR1	Q04771	p.Val402Phe	rs773531681	missense variant	-	NC_000002.12:g.157760940C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val402Ile	rs773531681	missense variant	-	NC_000002.12:g.157760940C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp403Asn	rs1314502834	missense variant	-	NC_000002.12:g.157760937C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ile404Ser	rs1417727949	missense variant	-	NC_000002.12:g.157760933A>C	gnomAD
ACVR1	Q04771	p.Ala415Asp	rs1389258569	missense variant	-	NC_000002.12:g.157760900G>T	gnomAD
ACVR1	Q04771	p.Arg417Gln	rs1366850999	missense variant	-	NC_000002.12:g.157760894C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Met418Thr	rs549634108	missense variant	-	NC_000002.12:g.157760891A>G	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>A	TOPMed,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn421Ser	rs769089859	missense variant	-	NC_000002.12:g.157760882T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile423Thr	rs1420336375	missense variant	-	NC_000002.12:g.157738567A>G	gnomAD
ACVR1	Q04771	p.Glu425Gly	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Glu425Ala	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Pro429Leu	rs568204852	missense variant	-	NC_000002.12:g.157738549G>A	1000Genomes
ACVR1	Q04771	p.Pro429Ser	rs761950656	missense variant	-	NC_000002.12:g.157738550G>A	ExAC,gnomAD
ACVR1	Q04771	p.Tyr432Cys	rs769079595	missense variant	-	NC_000002.12:g.157738540T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Asn	rs776029462	missense variant	-	NC_000002.12:g.157738538C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Gly	rs1026045983	missense variant	-	NC_000002.12:g.157738537T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Pro436Ser	rs1262652803	missense variant	-	NC_000002.12:g.157738529G>A	TOPMed
ACVR1	Q04771	p.Asn437Ser	rs375101352	missense variant	-	NC_000002.12:g.157738525T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn437Asp	rs1216474559	missense variant	-	NC_000002.12:g.157738526T>C	gnomAD
ACVR1	Q04771	p.Ser440Gly	rs745343863	missense variant	-	NC_000002.12:g.157738517T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp443Asn	rs1329295647	missense variant	-	NC_000002.12:g.157738508C>T	gnomAD
ACVR1	Q04771	p.Met444Thr	rs1485718076	missense variant	-	NC_000002.12:g.157738504A>G	TOPMed
ACVR1	Q04771	p.Met444Ile	rs1325258776	missense variant	-	NC_000002.12:g.157738503C>T	gnomAD
ACVR1	Q04771	p.Met444Val	rs1243033111	missense variant	-	NC_000002.12:g.157738505T>C	TOPMed
ACVR1	Q04771	p.Arg445LysTerUnk	rs1462003079	stop gained	-	NC_000002.12:g.157738502_157738503insATTT	gnomAD
ACVR1	Q04771	p.Asp451Val	rs1477301509	missense variant	-	NC_000002.12:g.157738483T>A	gnomAD
ACVR1	Q04771	p.Gln452Leu	rs756022457	missense variant	-	NC_000002.12:g.157738480T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg454Gly	rs148153887	missense variant	-	NC_000002.12:g.157738475T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile457Lys	rs1244629836	missense variant	-	NC_000002.12:g.157738465A>T	gnomAD
ACVR1	Q04771	p.Ile457Val	rs781232217	missense variant	-	NC_000002.12:g.157738466T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp464Glu	rs886042941	missense variant	-	NC_000002.12:g.157738443G>C	gnomAD
ACVR1	Q04771	p.Asp464Glu	RCV000399910	missense variant	-	NC_000002.12:g.157738443G>C	ClinVar
ACVR1	Q04771	p.Pro465Leu	rs750457181	missense variant	-	NC_000002.12:g.157738441G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr466Ile	rs754926966	missense variant	-	NC_000002.12:g.157737664G>A	ExAC,gnomAD
ACVR1	Q04771	p.Thr468Ala	rs751515337	missense variant	-	NC_000002.12:g.157737659T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs145780526	missense variant	-	NC_000002.12:g.157737658G>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ile	rs145780526	missense variant	-	NC_000002.12:g.157737658G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs751515337	missense variant	-	NC_000002.12:g.157737659T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Cys	rs989403918	missense variant	-	NC_000002.12:g.157737655G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Ala	rs757333055	missense variant	-	NC_000002.12:g.157737656A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr479Cys	rs1178573933	missense variant	-	NC_000002.12:g.157737625T>C	gnomAD
ACVR1	Q04771	p.Pro482Thr	rs1161864114	missense variant	-	NC_000002.12:g.157737617G>T	gnomAD
ACVR1	Q04771	p.Ala484Thr	rs1256476437	missense variant	-	NC_000002.12:g.157737611C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Arg485Ser	rs767830176	missense variant	-	NC_000002.12:g.157737606T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg490Pro	rs554387941	missense variant	-	NC_000002.12:g.157737592C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg490His	rs554387941	missense variant	-	NC_000002.12:g.157737592C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile498Thr	rs1026520055	missense variant	-	NC_000002.12:g.157737568A>G	TOPMed
ACVR1	Q04771	p.Asp499Asn	rs1226764570	missense variant	-	NC_000002.12:g.157737566C>T	gnomAD
ACVR1	Q04771	p.Asp503Asn	rs769751827	missense variant	-	NC_000002.12:g.157737554C>T	gnomAD
ACVR1	Q04771	p.Asp508Ter	RCV000520774	nonsense	-	NC_000002.12:g.157737540dup	ClinVar
ACVR1	Q04771	p.Cys509Arg	rs747858448	missense variant	-	NC_000002.12:g.157737536A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val2Ile	rs1280889930	missense variant	-	NC_000002.12:g.157799490C>T	gnomAD
ACVR1	Q04771	p.Gly4Glu	rs1203606345	missense variant	-	NC_000002.12:g.157799483C>T	gnomAD
ACVR1	Q04771	p.Val5Met	rs756630764	missense variant	-	NC_000002.12:g.157799481C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro9Ser	rs753322618	missense variant	-	NC_000002.12:g.157799469G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile12Val	rs759017686	missense variant	-	NC_000002.12:g.157799460T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met13Arg	rs1315007491	missense variant	-	NC_000002.12:g.157799456A>C	gnomAD
ACVR1	Q04771	p.Ile14Phe	rs773936526	missense variant	-	NC_000002.12:g.157799454T>A	ExAC,gnomAD
ACVR1	Q04771	p.Ala15Gly	RCV000350817	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157799450G>C	ClinVar
ACVR1	Q04771	p.Ala15Gly	rs13406336	missense variant	-	NC_000002.12:g.157799450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Thr	rs745444504	missense variant	-	NC_000002.12:g.157799442A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser18Tyr	rs1383805044	missense variant	-	NC_000002.12:g.157799441G>T	gnomAD
ACVR1	Q04771	p.Ser18Ala	rs745444504	missense variant	-	NC_000002.12:g.157799442A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro19Ser	rs1158969294	missense variant	-	NC_000002.12:g.157799439G>A	gnomAD
ACVR1	Q04771	p.Ser20Asn	rs1383193990	missense variant	-	NC_000002.12:g.157799435C>T	gnomAD
ACVR1	Q04771	p.Met21Val	rs1170014341	missense variant	-	NC_000002.12:g.157799433T>C	TOPMed
ACVR1	Q04771	p.Glu22Gln	rs1473120013	missense variant	-	NC_000002.12:g.157799430C>G	gnomAD
ACVR1	Q04771	p.Lys25Arg	rs1157679779	missense variant	-	NC_000002.12:g.157780594T>C	TOPMed
ACVR1	Q04771	p.Pro26Ser	rs377197386	missense variant	-	NC_000002.12:g.157780592G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val28Phe	rs1426099891	missense variant	-	NC_000002.12:g.157780586C>A	TOPMed
ACVR1	Q04771	p.Asn29Ile	rs761642757	missense variant	-	NC_000002.12:g.157780582T>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro30Arg	rs1364644712	missense variant	-	NC_000002.12:g.157780579G>C	TOPMed
ACVR1	Q04771	p.Lys31Arg	rs547743970	missense variant	-	NC_000002.12:g.157780576T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu32Pro	rs373607071	missense variant	-	NC_000002.12:g.157780573A>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Tyr33Ter	rs201453468	stop gained	-	NC_000002.12:g.157780569G>T	1000Genomes,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met34Arg	rs757848830	missense variant	-	NC_000002.12:g.157780567A>C	ExAC,gnomAD
ACVR1	Q04771	p.Met34Val	rs370437421	missense variant	-	NC_000002.12:g.157780568T>C	ESP
ACVR1	Q04771	p.Met34Thr	rs757848830	missense variant	-	NC_000002.12:g.157780567A>G	ExAC,gnomAD
ACVR1	Q04771	p.Met34Lys	rs757848830	missense variant	-	NC_000002.12:g.157780567A>T	ExAC,gnomAD
ACVR1	Q04771	p.Val36Ala	rs377466501	missense variant	-	NC_000002.12:g.157780561A>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val36Glu	rs377466501	missense variant	-	NC_000002.12:g.157780561A>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gly39Ser	rs983884500	missense variant	-	NC_000002.12:g.157780553C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser41Phe	rs55957214	missense variant	-	NC_000002.12:g.157780546G>A	UniProt,dbSNP
ACVR1	Q04771	p.Ser41Phe	VAR_041393	missense variant	-	NC_000002.12:g.157780546G>A	UniProt
ACVR1	Q04771	p.Gly43Ser	rs112489929	missense variant	-	NC_000002.12:g.157780541C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn44His	rs1006682010	missense variant	-	NC_000002.12:g.157780538T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Asn44Ser	rs1321405252	missense variant	-	NC_000002.12:g.157780537T>C	TOPMed
ACVR1	Q04771	p.Asp46Ala	rs1219780031	missense variant	-	NC_000002.12:g.157780531T>G	TOPMed
ACVR1	Q04771	p.His47Asn	rs889434177	missense variant	-	NC_000002.12:g.157780529G>T	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	rs34056189	missense variant	-	NC_000002.12:g.157780527G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His47Asp	rs889434177	missense variant	-	NC_000002.12:g.157780529G>C	TOPMed,gnomAD
ACVR1	Q04771	p.His47Tyr	rs889434177	missense variant	-	NC_000002.12:g.157780529G>A	TOPMed,gnomAD
ACVR1	Q04771	p.His47Gln	RCV000406342	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157780527G>C	ClinVar
ACVR1	Q04771	p.Glu49Lys	rs1219953789	missense variant	-	NC_000002.12:g.157780523C>T	gnomAD
ACVR1	Q04771	p.Gln51His	rs1320913728	missense variant	-	NC_000002.12:g.157780515C>A	gnomAD
ACVR1	Q04771	p.Gln52His	rs1266976280	missense variant	-	NC_000002.12:g.157780512C>G	gnomAD
ACVR1	Q04771	p.Phe54Ser	rs1300205903	missense variant	-	NC_000002.12:g.157780507A>G	gnomAD
ACVR1	Q04771	p.Ser58Thr	rs779531410	missense variant	-	NC_000002.12:g.157780495C>G	ExAC,gnomAD
ACVR1	Q04771	p.Ile59Val	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>C	gnomAD
ACVR1	Q04771	p.Ile59Phe	rs1296302175	missense variant	-	NC_000002.12:g.157780493T>A	gnomAD
ACVR1	Q04771	p.Asp61Gly	rs748590407	missense variant	-	NC_000002.12:g.157780486T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Val	rs748590407	missense variant	-	NC_000002.12:g.157780486T>A	ExAC,gnomAD
ACVR1	Q04771	p.Asp61Asn	rs772534199	missense variant	-	NC_000002.12:g.157780487C>T	gnomAD
ACVR1	Q04771	p.Phe63Ser	rs764818005	missense variant	-	NC_000002.12:g.157780480A>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val65Ile	rs370028017	missense variant	-	NC_000002.12:g.157780475C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Glu75Gly	rs1176995618	missense variant	-	NC_000002.12:g.157780444T>C	gnomAD
ACVR1	Q04771	p.Gln76Pro	rs763961607	missense variant	-	NC_000002.12:g.157780441T>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln76Arg	rs763961607	missense variant	-	NC_000002.12:g.157780441T>C	ExAC,gnomAD
ACVR1	Q04771	p.Lys78Glu	rs1240600134	missense variant	-	NC_000002.12:g.157780436T>C	gnomAD
ACVR1	Q04771	p.Met79Ile	rs1403278698	missense variant	-	NC_000002.12:g.157780431C>T	TOPMed
ACVR1	Q04771	p.Lys82Glu	rs1354910596	missense variant	-	NC_000002.12:g.157780424T>C	TOPMed
ACVR1	Q04771	p.Pro84Gln	rs775537696	missense variant	-	NC_000002.12:g.157780417G>T	ExAC,gnomAD
ACVR1	Q04771	p.Pro84Leu	rs775537696	missense variant	-	NC_000002.12:g.157780417G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro85Leu	rs1329223493	missense variant	-	NC_000002.12:g.157780414G>A	TOPMed
ACVR1	Q04771	p.Ser86Phe	rs773459224	missense variant	-	NC_000002.12:g.157780411G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro87Leu	rs1036913529	missense variant	-	NC_000002.12:g.157780408G>A	TOPMed
ACVR1	Q04771	p.Gln89Arg	rs1033271814	missense variant	-	NC_000002.12:g.157780402T>C	TOPMed
ACVR1	Q04771	p.Ala90Thr	rs1377494192	missense variant	-	NC_000002.12:g.157780400C>T	gnomAD
ACVR1	Q04771	p.Gln95Arg	rs1367397338	missense variant	-	NC_000002.12:g.157780384T>C	gnomAD
ACVR1	Q04771	p.Gly96Arg	rs748419133	missense variant	-	NC_000002.12:g.157780382C>T	ExAC,gnomAD
ACVR1	Q04771	p.Gly96Glu	rs373678733	missense variant	-	NC_000002.12:g.157780381C>T	ESP
ACVR1	Q04771	p.Trp98Ter	rs769135409	stop gained	-	NC_000002.12:g.157780374C>T	ExAC,gnomAD
ACVR1	Q04771	p.Asn100Ser	rs747439148	missense variant	-	NC_000002.12:g.157780369T>C	ExAC,gnomAD
ACVR1	Q04771	p.Arg101Thr	rs369211520	missense variant	-	NC_000002.12:g.157780366C>G	ESP,TOPMed
ACVR1	Q04771	p.Arg101Gly	rs780585007	missense variant	-	NC_000002.12:g.157780367T>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr104Met	rs758925804	missense variant	-	NC_000002.12:g.157780357G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln106His	rs376138658	missense variant	-	NC_000002.12:g.157780350C>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro108Ser	rs1423804322	missense variant	-	NC_000002.12:g.157780346G>A	gnomAD
ACVR1	Q04771	p.Lys112Asn	rs138808563	missense variant	-	NC_000002.12:g.157778338T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser113Thr	rs1303422236	missense variant	-	NC_000002.12:g.157778337A>T	TOPMed
ACVR1	Q04771	p.Pro115Ser	VAR_041395	Missense	-	-	UniProt
ACVR1	Q04771	p.His121Tyr	rs756858830	missense variant	-	NC_000002.12:g.157778313G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His121Leu	rs1265994310	missense variant	-	NC_000002.12:g.157778312T>A	gnomAD
ACVR1	Q04771	p.Val124Ala	rs1278430564	missense variant	-	NC_000002.12:g.157778303A>G	TOPMed
ACVR1	Q04771	p.Val124Phe	rs748870121	missense variant	-	NC_000002.12:g.157778304C>A	ExAC,gnomAD
ACVR1	Q04771	p.Ile127Val	rs1277715491	missense variant	-	NC_000002.12:g.157778295T>C	gnomAD
ACVR1	Q04771	p.Ile128Phe	rs1400837052	missense variant	-	NC_000002.12:g.157778292T>A	gnomAD
ACVR1	Q04771	p.Leu129Phe	rs755755509	missense variant	-	NC_000002.12:g.157778289G>A	ExAC
ACVR1	Q04771	p.Ser130Phe	rs1342623415	missense variant	-	NC_000002.12:g.157778285G>A	gnomAD
ACVR1	Q04771	p.Val131Ile	rs767431486	missense variant	-	NC_000002.12:g.157778283C>T	ExAC,gnomAD
ACVR1	Q04771	p.Val132Ala	rs74905152	missense variant	-	NC_000002.12:g.157778279A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe133Leu	rs1450825927	missense variant	-	NC_000002.12:g.157778277A>G	TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Ser	rs765195676	missense variant	-	NC_000002.12:g.157778274C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ala134Thr	rs765195676	missense variant	-	NC_000002.12:g.157778274C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Leu141Pro	rs760813831	missense variant	-	NC_000002.12:g.157778252A>G	ExAC,gnomAD
ACVR1	Q04771	p.Val144Ala	rs775776209	missense variant	-	NC_000002.12:g.157778243A>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg147Ter	rs1267861432	stop gained	-	NC_000002.12:g.157778235G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Arg147Gln	rs373187352	missense variant	-	NC_000002.12:g.157778234C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe149Tyr	rs746369903	missense variant	-	NC_000002.12:g.157778228A>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg151Trp	rs1381732329	missense variant	-	NC_000002.12:g.157778223T>A	TOPMed
ACVR1	Q04771	p.Arg152His	rs748791232	missense variant	-	NC_000002.12:g.157778219C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg152Cys	rs771363719	missense variant	-	NC_000002.12:g.157778220G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn153Asp	rs1281575126	missense variant	-	NC_000002.12:g.157778217T>C	gnomAD
ACVR1	Q04771	p.Gln154Lys	rs1232871090	missense variant	-	NC_000002.12:g.157778214G>T	gnomAD
ACVR1	Q04771	p.Glu155Gln	rs1332027312	missense variant	-	NC_000002.12:g.157778211C>G	gnomAD
ACVR1	Q04771	p.Arg156Cys	rs777150519	missense variant	-	NC_000002.12:g.157778208G>A	ExAC,TOPMed
ACVR1	Q04771	p.Arg156His	rs755732603	missense variant	-	NC_000002.12:g.157778207C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg156Leu	rs755732603	missense variant	-	NC_000002.12:g.157778207C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn158Ser	rs781127308	missense variant	-	NC_000002.12:g.157778201T>C	ExAC,gnomAD
ACVR1	Q04771	p.Pro159Ser	rs374836197	missense variant	-	NC_000002.12:g.157778199G>A	ESP
ACVR1	Q04771	p.Arg160Gln	rs751524299	missense variant	-	NC_000002.12:g.157778195C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg160Gly	rs188547477	missense variant	-	NC_000002.12:g.157778196G>C	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Asp161Glu	rs766295467	missense variant	-	NC_000002.12:g.157778191G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val162Met	rs201452185	missense variant	-	NC_000002.12:g.157778190C>T	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr164Ser	rs1377987645	missense variant	-	NC_000002.12:g.157778183T>G	gnomAD
ACVR1	Q04771	p.Gly165Asp	rs1269251512	missense variant	-	NC_000002.12:g.157778180C>T	gnomAD
ACVR1	Q04771	p.Glu168Lys	rs764097240	missense variant	-	NC_000002.12:g.157778172C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu170Phe	rs979341093	missense variant	-	NC_000002.12:g.157778166G>A	TOPMed
ACVR1	Q04771	p.Ile171Thr	rs1315491312	missense variant	-	NC_000002.12:g.157778162A>G	TOPMed
ACVR1	Q04771	p.Thr172Ser	rs145150729	missense variant	-	NC_000002.12:g.157778159G>C	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Thr173Ile	rs1199234423	missense variant	-	NC_000002.12:g.157778156G>A	gnomAD
ACVR1	Q04771	p.Asn174Ser	rs374178479	missense variant	-	NC_000002.12:g.157778153T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Thr	rs374178479	missense variant	-	NC_000002.12:g.157778153T>G	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn174Ile	rs374178479	missense variant	-	NC_000002.12:g.157778153T>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser178Arg	rs759844485	missense variant	-	NC_000002.12:g.157778142T>G	ExAC,gnomAD
ACVR1	Q04771	p.Thr179Ala	rs774729034	missense variant	-	NC_000002.12:g.157778139T>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu183Val	rs767686530	missense variant	-	NC_000002.12:g.157774184A>C	ExAC,gnomAD
ACVR1	Q04771	p.Leu184Phe	rs41265129	missense variant	-	NC_000002.12:g.157774179C>A	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.His186Tyr	rs751891766	missense variant	-	NC_000002.12:g.157774175G>A	ExAC,gnomAD
ACVR1	Q04771	p.His186Arg	rs766710069	missense variant	-	NC_000002.12:g.157774174T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ser187Leu	rs146610930	missense variant	-	NC_000002.12:g.157774171G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys188Tyr	rs769402195	missense variant	-	NC_000002.12:g.157774168C>T	ExAC,gnomAD
ACVR1	Q04771	p.Leu196Pro	rs797045135	missense variant	-	NC_000002.12:g.157774144A>G	-
ACVR1	Q04771	p.Leu196Pro	RCV000190876	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774144A>G	ClinVar
ACVR1	Q04771	p.Pro197_Phe198delinsLeu	VAR_058418	deletion_insertion	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt,dbSNP
ACVR1	Q04771	p.Arg202Ile	VAR_058419	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774126C>A	UniProt
ACVR1	Q04771	p.Arg202Ile	rs387906591	missense variant	-	NC_000002.12:g.157774126C>A	-
ACVR1	Q04771	p.Arg202Ile	RCV000022434	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774126C>A	ClinVar
ACVR1	Q04771	p.Thr203Arg	rs1040973331	missense variant	-	NC_000002.12:g.157774123G>C	TOPMed
ACVR1	Q04771	p.Arg206His	RCV000422441	missense variant	-	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	RCV000019971	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157774114C>T	ClinVar
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt,dbSNP
ACVR1	Q04771	p.Arg206His	VAR_028444	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157774114C>T	UniProt
ACVR1	Q04771	p.Arg206His	rs121912678	missense variant	-	NC_000002.12:g.157774114C>T	ExAC,gnomAD
ACVR1	Q04771	p.Arg206Pro	rs121912678	missense variant	-	NC_000002.12:g.157774114C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207His	rs771829967	missense variant	-	NC_000002.12:g.157774110C>G	ExAC,gnomAD
ACVR1	Q04771	p.Gln207Pro	rs779886918	missense variant	-	NC_000002.12:g.157774111T>G	ExAC
ACVR1	Q04771	p.Gln207Glu	VAR_058420	Missense	Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]	-	UniProt
ACVR1	Q04771	p.Glu212Asp	rs201872272	missense variant	-	NC_000002.12:g.157774095C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Ser	rs778765499	missense variant	-	NC_000002.12:g.157774093C>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Cys213Tyr	RCV000658878	missense variant	-	NC_000002.12:g.157774093C>T	ClinVar
ACVR1	Q04771	p.Cys213Tyr	rs778765499	missense variant	-	NC_000002.12:g.157774093C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Lys216Asn	rs1396618797	missense variant	-	NC_000002.12:g.157770510T>A	TOPMed,gnomAD
ACVR1	Q04771	p.Tyr219Cys	rs1198591575	missense variant	-	NC_000002.12:g.157770502T>C	TOPMed
ACVR1	Q04771	p.Trp223Ter	rs1465199127	stop gained	-	NC_000002.12:g.157770490C>T	gnomAD
ACVR1	Q04771	p.Ser226Asn	rs1401182199	missense variant	-	NC_000002.12:g.157770481C>T	gnomAD
ACVR1	Q04771	p.Ser226Gly	rs902199134	missense variant	-	NC_000002.12:g.157770482T>C	TOPMed
ACVR1	Q04771	p.Gln228His	rs1271017134	missense variant	-	NC_000002.12:g.157770474T>G	gnomAD
ACVR1	Q04771	p.Gly229Glu	rs770796956	missense variant	-	NC_000002.12:g.157770472C>T	ExAC,gnomAD
ACVR1	Q04771	p.Glu230Gly	rs749279563	missense variant	-	NC_000002.12:g.157770469T>C	ExAC,gnomAD
ACVR1	Q04771	p.Val234Met	rs1198616498	missense variant	-	NC_000002.12:g.157770458C>T	gnomAD
ACVR1	Q04771	p.Ile236Leu	rs747230014	missense variant	-	NC_000002.12:g.157770452T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Ser	rs750691291	missense variant	-	NC_000002.12:g.157770440G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg240Cys	rs750691291	missense variant	-	NC_000002.12:g.157770440G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs757827984	stop gained	-	NC_000002.12:g.157770423C>T	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Leu	rs765713093	missense variant	-	NC_000002.12:g.157770424C>A	ExAC,gnomAD
ACVR1	Q04771	p.Trp245Ter	rs765713093	stop gained	-	NC_000002.12:g.157770424C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Leu	rs754465233	missense variant	-	NC_000002.12:g.157770422A>G	ExAC,gnomAD
ACVR1	Q04771	p.Phe246Tyr	rs763667205	missense variant	-	NC_000002.12:g.157770421A>T	ExAC,gnomAD
ACVR1	Q04771	p.Thr249Met	rs760152551	missense variant	-	NC_000002.12:g.157770412G>A	ExAC,gnomAD
ACVR1	Q04771	p.Val255Leu	rs1177191263	missense variant	-	NC_000002.12:g.157770395C>A	gnomAD
ACVR1	Q04771	p.Met256Arg	rs1236989443	missense variant	-	NC_000002.12:g.157770391A>C	TOPMed
ACVR1	Q04771	p.Arg258Ser	RCV000019973	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770384C>G	ClinVar
ACVR1	Q04771	p.Arg258Gly	rs863224846	missense variant	-	NC_000002.12:g.157770386T>C	gnomAD
ACVR1	Q04771	p.Arg258Ser	rs121912680	missense variant	-	NC_000002.12:g.157770384C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg258Gly	RCV000198218	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Gly	RCV000437179	missense variant	-	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Met	rs1057519875	missense variant	-	NC_000002.12:g.157770385C>A	-
ACVR1	Q04771	p.Arg258Gly	RCV000426913	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770386T>C	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000444963	missense variant	-	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Arg258Met	RCV000426291	missense variant	Adenocarcinoma of stomach	NC_000002.12:g.157770385C>A	ClinVar
ACVR1	Q04771	p.Phe265Ile	rs752089024	missense variant	-	NC_000002.12:g.157766194A>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile266Val	rs767113095	missense variant	-	NC_000002.12:g.157766191T>C	ExAC
ACVR1	Q04771	p.Asp269Asn	rs1254939246	missense variant	-	NC_000002.12:g.157766182C>T	gnomAD
ACVR1	Q04771	p.Thr271Ala	rs1188212622	missense variant	-	NC_000002.12:g.157766176T>C	gnomAD
ACVR1	Q04771	p.His274Tyr	rs375487177	missense variant	-	NC_000002.12:g.157766167G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.His274Tyr	RCV000266265	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766167G>A	ClinVar
ACVR1	Q04771	p.Ser276Asn	rs1260691632	missense variant	-	NC_000002.12:g.157766160C>T	TOPMed,gnomAD
ACVR1	Q04771	p.His286Asn	rs766136409	missense variant	-	NC_000002.12:g.157766131G>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Met288Val	rs762684873	missense variant	-	NC_000002.12:g.157766125T>C	ExAC,gnomAD
ACVR1	Q04771	p.Met288Leu	rs762684873	missense variant	-	NC_000002.12:g.157766125T>G	ExAC,gnomAD
ACVR1	Q04771	p.Leu291Met	rs1403640582	missense variant	-	NC_000002.12:g.157766116A>T	gnomAD
ACVR1	Q04771	p.Gln296Glu	rs1297924053	missense variant	-	NC_000002.12:g.157766101G>C	gnomAD
ACVR1	Q04771	p.Thr298Ser	rs772263790	missense variant	-	NC_000002.12:g.157766094G>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr299Ser	rs746058852	missense variant	-	NC_000002.12:g.157766091G>C	ExAC,gnomAD
ACVR1	Q04771	p.Thr302Ile	rs779328796	missense variant	-	NC_000002.12:g.157766082G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser304Asn	rs771301363	missense variant	-	NC_000002.12:g.157766076C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ser304Ile	rs771301363	missense variant	-	NC_000002.12:g.157766076C>A	ExAC,gnomAD
ACVR1	Q04771	p.Cys305Ser	rs377300823	missense variant	-	NC_000002.12:g.157766073C>G	ESP,ExAC,gnomAD
ACVR1	Q04771	p.Arg307Leu	rs766547414	missense variant	-	NC_000002.12:g.157766067C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Gln	rs766547414	missense variant	-	NC_000002.12:g.157766067C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Arg307Ter	rs778212213	stop gained	-	NC_000002.12:g.157766068G>A	ExAC,gnomAD
ACVR1	Q04771	p.Gln327Glu	rs1184040818	missense variant	-	NC_000002.12:g.157766008G>C	gnomAD
ACVR1	Q04771	p.Gly328Glu	rs387906589	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Glu	VAR_058421	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766004C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Arg	VAR_058422	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>T	UniProt
ACVR1	Q04771	p.Gly328Arg	rs387906588	missense variant	-	NC_000002.12:g.157766005C>T	-
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	-	NC_000002.12:g.157766005C>A	-
ACVR1	Q04771	p.Gly328Trp	rs387906588	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt,dbSNP
ACVR1	Q04771	p.Gly328Trp	VAR_058423	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157766005C>A	UniProt
ACVR1	Q04771	p.Gly328Trp	RCV000022431	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>A	ClinVar
ACVR1	Q04771	p.Gly328Val	RCV000445088	missense variant	-	NC_000002.12:g.157766004C>A	ClinVar
ACVR1	Q04771	p.Gly328Arg	RCV000022430	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157766005C>T	ClinVar
ACVR1	Q04771	p.Gly328Glu	RCV000624246	missense variant	Inborn genetic diseases	NC_000002.12:g.157766004C>T	ClinVar
ACVR1	Q04771	p.Lys329Ter	rs934382490	stop gained	-	NC_000002.12:g.157766002T>A	TOPMed
ACVR1	Q04771	p.Lys329Asn	rs1207985115	missense variant	-	NC_000002.12:g.157766000T>G	gnomAD
ACVR1	Q04771	p.Pro330Ala	rs1471307549	missense variant	-	NC_000002.12:g.157765999G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ala331Ser	rs1273830277	missense variant	-	NC_000002.12:g.157765996C>A	gnomAD
ACVR1	Q04771	p.Ile332Val	rs1215662062	missense variant	-	NC_000002.12:g.157765993T>C	gnomAD
ACVR1	Q04771	p.Arg335Gln	rs1316254232	missense variant	-	NC_000002.12:g.157765983C>T	gnomAD
ACVR1	Q04771	p.Val344Gly	rs1328556577	missense variant	-	NC_000002.12:g.157765956A>C	gnomAD
ACVR1	Q04771	p.Lys345Arg	rs1299645908	missense variant	-	NC_000002.12:g.157765953T>C	gnomAD
ACVR1	Q04771	p.Lys346Asn	rs144048685	missense variant	-	NC_000002.12:g.157765949C>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile352Val	rs1325945796	missense variant	-	NC_000002.12:g.157765933T>C	gnomAD
ACVR1	Q04771	p.Leu355Phe	rs1397562603	missense variant	-	NC_000002.12:g.157765922C>G	gnomAD
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	-	NC_000002.12:g.157761077C>T	-
ACVR1	Q04771	p.Gly356Asp	rs121912679	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt,dbSNP
ACVR1	Q04771	p.Gly356Asp	VAR_058424	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761077C>T	UniProt
ACVR1	Q04771	p.Gly356Asp	RCV000019972	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761077C>T	ClinVar
ACVR1	Q04771	p.Met360Val	rs1374008691	missense variant	-	NC_000002.12:g.157761066T>C	gnomAD
ACVR1	Q04771	p.Asn372Ser	rs1398213948	missense variant	-	NC_000002.12:g.157761029T>C	gnomAD
ACVR1	Q04771	p.Asn373Ser	rs1453500793	missense variant	-	NC_000002.12:g.157761026T>C	TOPMed
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt,dbSNP
ACVR1	Q04771	p.Arg375Pro	VAR_058425	missense variant	Fibrodysplasia ossificans progressiva (FOP)	NC_000002.12:g.157761020C>G	UniProt
ACVR1	Q04771	p.Arg375Pro	rs387906590	missense variant	-	NC_000002.12:g.157761020C>G	-
ACVR1	Q04771	p.Arg375Cys	rs751000395	missense variant	-	NC_000002.12:g.157761021G>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg375Pro	RCV000022433	missense variant	Progressive myositis ossificans (FOP)	NC_000002.12:g.157761020C>G	ClinVar
ACVR1	Q04771	p.Arg380Cys	rs984482376	missense variant	-	NC_000002.12:g.157761006G>A	TOPMed,gnomAD
ACVR1	Q04771	p.Met382Val	rs1237577558	missense variant	-	NC_000002.12:g.157761000T>C	gnomAD
ACVR1	Q04771	p.Ala383Val	rs750147467	missense variant	-	NC_000002.12:g.157760996G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro384Ser	rs764912823	missense variant	-	NC_000002.12:g.157760994G>A	ExAC,gnomAD
ACVR1	Q04771	p.Glu385Lys	rs1034717563	missense variant	-	NC_000002.12:g.157760991C>T	TOPMed
ACVR1	Q04771	p.Ile391Val	rs1325715485	missense variant	-	NC_000002.12:g.157760973T>C	TOPMed
ACVR1	Q04771	p.Gln392His	rs1282994566	missense variant	-	NC_000002.12:g.157760968C>G	gnomAD
ACVR1	Q04771	p.Gln392Arg	rs753599813	missense variant	-	NC_000002.12:g.157760969T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Pro	rs753599813	missense variant	-	NC_000002.12:g.157760969T>G	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Gln392Leu	rs753599813	missense variant	-	NC_000002.12:g.157760969T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp394Asn	rs764053318	missense variant	-	NC_000002.12:g.157760964C>T	ExAC,gnomAD
ACVR1	Q04771	p.Phe396Ile	rs760693961	missense variant	-	NC_000002.12:g.157760958A>T	ExAC,gnomAD
ACVR1	Q04771	p.Asp397Asn	rs766633229	missense variant	-	NC_000002.12:g.157760955C>T	ExAC,gnomAD
ACVR1	Q04771	p.Tyr399Cys	rs1331769971	missense variant	-	NC_000002.12:g.157760948T>C	gnomAD
ACVR1	Q04771	p.Lys400Glu	rs1064796674	missense variant	-	NC_000002.12:g.157760946T>C	-
ACVR1	Q04771	p.Lys400Glu	RCV000478819	missense variant	-	NC_000002.12:g.157760946T>C	ClinVar
ACVR1	Q04771	p.Arg401Thr	rs1301730759	missense variant	-	NC_000002.12:g.157760942C>G	TOPMed
ACVR1	Q04771	p.Val402Phe	rs773531681	missense variant	-	NC_000002.12:g.157760940C>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Val402Ile	rs773531681	missense variant	-	NC_000002.12:g.157760940C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp403Asn	rs1314502834	missense variant	-	NC_000002.12:g.157760937C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Ile404Ser	rs1417727949	missense variant	-	NC_000002.12:g.157760933A>C	gnomAD
ACVR1	Q04771	p.Ala415Asp	rs1389258569	missense variant	-	NC_000002.12:g.157760900G>T	gnomAD
ACVR1	Q04771	p.Arg417Gln	rs1366850999	missense variant	-	NC_000002.12:g.157760894C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Met418Thr	rs549634108	missense variant	-	NC_000002.12:g.157760891A>G	1000Genomes,ExAC,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>G	TOPMed,gnomAD
ACVR1	Q04771	p.Val419Leu	rs1035254243	missense variant	-	NC_000002.12:g.157760889C>A	TOPMed,gnomAD
ACVR1	Q04771	p.Asn421Ser	rs769089859	missense variant	-	NC_000002.12:g.157760882T>C	ExAC,gnomAD
ACVR1	Q04771	p.Ile423Thr	rs1420336375	missense variant	-	NC_000002.12:g.157738567A>G	gnomAD
ACVR1	Q04771	p.Glu425Gly	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Glu425Ala	rs1191828453	missense variant	-	NC_000002.12:g.157738561T>G	TOPMed,gnomAD
ACVR1	Q04771	p.Pro429Ser	rs761950656	missense variant	-	NC_000002.12:g.157738550G>A	ExAC,gnomAD
ACVR1	Q04771	p.Pro429Leu	rs568204852	missense variant	-	NC_000002.12:g.157738549G>A	1000Genomes
ACVR1	Q04771	p.Tyr432Cys	rs769079595	missense variant	-	NC_000002.12:g.157738540T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Gly	rs1026045983	missense variant	-	NC_000002.12:g.157738537T>C	TOPMed,gnomAD
ACVR1	Q04771	p.Asp433Asn	rs776029462	missense variant	-	NC_000002.12:g.157738538C>T	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Pro436Ser	rs1262652803	missense variant	-	NC_000002.12:g.157738529G>A	TOPMed
ACVR1	Q04771	p.Asn437Ser	rs375101352	missense variant	-	NC_000002.12:g.157738525T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asn437Asp	rs1216474559	missense variant	-	NC_000002.12:g.157738526T>C	gnomAD
ACVR1	Q04771	p.Ser440Gly	rs745343863	missense variant	-	NC_000002.12:g.157738517T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Asp443Asn	rs1329295647	missense variant	-	NC_000002.12:g.157738508C>T	gnomAD
ACVR1	Q04771	p.Met444Thr	rs1485718076	missense variant	-	NC_000002.12:g.157738504A>G	TOPMed
ACVR1	Q04771	p.Met444Ile	rs1325258776	missense variant	-	NC_000002.12:g.157738503C>T	gnomAD
ACVR1	Q04771	p.Met444Val	rs1243033111	missense variant	-	NC_000002.12:g.157738505T>C	TOPMed
ACVR1	Q04771	p.Arg445LysTerUnk	rs1462003079	stop gained	-	NC_000002.12:g.157738502_157738503insATTT	gnomAD
ACVR1	Q04771	p.Asp451Val	rs1477301509	missense variant	-	NC_000002.12:g.157738483T>A	gnomAD
ACVR1	Q04771	p.Gln452Leu	rs756022457	missense variant	-	NC_000002.12:g.157738480T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg454Gly	rs148153887	missense variant	-	NC_000002.12:g.157738475T>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ile457Lys	rs1244629836	missense variant	-	NC_000002.12:g.157738465A>T	gnomAD
ACVR1	Q04771	p.Ile457Val	rs781232217	missense variant	-	NC_000002.12:g.157738466T>C	ExAC,gnomAD
ACVR1	Q04771	p.Asp464Glu	rs886042941	missense variant	-	NC_000002.12:g.157738443G>C	gnomAD
ACVR1	Q04771	p.Asp464Glu	RCV000399910	missense variant	-	NC_000002.12:g.157738443G>C	ClinVar
ACVR1	Q04771	p.Pro465Leu	rs750457181	missense variant	-	NC_000002.12:g.157738441G>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr466Ile	rs754926966	missense variant	-	NC_000002.12:g.157737664G>A	ExAC,gnomAD
ACVR1	Q04771	p.Thr468Ala	rs751515337	missense variant	-	NC_000002.12:g.157737659T>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs145780526	missense variant	-	NC_000002.12:g.157737658G>C	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ile	rs145780526	missense variant	-	NC_000002.12:g.157737658G>A	ESP,ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Thr468Ser	rs751515337	missense variant	-	NC_000002.12:g.157737659T>A	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Cys	rs989403918	missense variant	-	NC_000002.12:g.157737655G>C	TOPMed,gnomAD
ACVR1	Q04771	p.Ser469Ala	rs757333055	missense variant	-	NC_000002.12:g.157737656A>C	ExAC,TOPMed,gnomAD
ACVR1	Q04771	p.Tyr479Cys	rs1178573933	missense variant	-	NC_000002.12:g.157737625T>C	gnomAD
ACVR1	Q04771	p.Pro482Thr	rs1161864114	missense variant	-	NC_000002.12:g.157737617G>T	gnomAD
ACVR1	Q04771	p.Ala484Thr	rs1256476437	missense variant	-	NC_000002.12:g.157737611C>T	TOPMed,gnomAD
ACVR1	Q04771	p.Arg485Ser	rs767830176	missense variant	-	NC_000002.12:g.157737606T>A	ExAC,gnomAD
ACVR1	Q04771	p.Arg490Pro	rs554387941	missense variant	-	NC_000002.12:g.157737592C>G	ExAC,gnomAD
ACVR1	Q04771	p.Arg490His	rs554387941	missense variant	-	NC_000002.12:g.157737592C>T	ExAC,gnomAD
ACVR1	Q04771	p.Ile498Thr	rs1026520055	missense variant	-	NC_000002.12:g.157737568A>G	TOPMed
ACVR1	Q04771	p.Asp499Asn	rs1226764570	missense variant	-	NC_000002.12:g.157737566C>T	gnomAD
ACVR1	Q04771	p.Asp503Asn	rs769751827	missense variant	-	NC_000002.12:g.157737554C>T	gnomAD
ACVR1	Q04771	p.Asp508Ter	RCV000520774	nonsense	-	NC_000002.12:g.157737540dup	ClinVar
ACVR1	Q04771	p.Cys509Arg	rs747858448	missense variant	-	NC_000002.12:g.157737536A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala2Thr	rs1460668960	missense variant	-	NC_000010.11:g.26216813G>A	gnomAD
GAD2	Q05329	p.Ser3Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26216817C>T	NCI-TCGA
GAD2	Q05329	p.Pro4Ala	rs1357128684	missense variant	-	NC_000010.11:g.26216819C>G	gnomAD
GAD2	Q05329	p.Pro4Leu	rs751813351	missense variant	-	NC_000010.11:g.26216820C>T	ExAC,gnomAD
GAD2	Q05329	p.Ser6Tyr	rs1334270030	missense variant	-	NC_000010.11:g.26216826C>A	gnomAD
GAD2	Q05329	p.Trp9Cys	rs201691653	missense variant	-	NC_000010.11:g.26216836G>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Gly12Arg	rs8190591	missense variant	-	NC_000010.11:g.26216843G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly12Arg	rs8190591	missense variant	-	NC_000010.11:g.26216843G>C	UniProt,dbSNP
GAD2	Q05329	p.Gly12Arg	VAR_018821	missense variant	-	NC_000010.11:g.26216843G>C	UniProt
GAD2	Q05329	p.Ser13Leu	COSM917317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26216847C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Glu14Gln	rs779802271	missense variant	-	NC_000010.11:g.26216849G>C	ExAC,gnomAD
GAD2	Q05329	p.Glu14Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26216849G>T	NCI-TCGA
GAD2	Q05329	p.Asp15Asn	rs532313935	missense variant	-	NC_000010.11:g.26216852G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Gly16Asp	COSM4877804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26216856G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Gly16Val	rs768502950	missense variant	-	NC_000010.11:g.26216856G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly18Val	rs776361193	missense variant	-	NC_000010.11:g.26216862G>T	ExAC,gnomAD
GAD2	Q05329	p.Asp19Val	rs761800765	missense variant	-	NC_000010.11:g.26216865A>T	ExAC,gnomAD
GAD2	Q05329	p.Ser20Phe	rs769669694	missense variant	-	NC_000010.11:g.26216868C>T	ExAC,gnomAD
GAD2	Q05329	p.Glu21Lys	rs769872988	missense variant	-	NC_000010.11:g.26216870G>A	ExAC,gnomAD
GAD2	Q05329	p.Glu21Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26216872G>T	NCI-TCGA
GAD2	Q05329	p.Glu21Asp	rs148577863	missense variant	-	NC_000010.11:g.26216872G>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly24Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26216880G>T	NCI-TCGA
GAD2	Q05329	p.Gly24Ser	rs766470128	missense variant	-	NC_000010.11:g.26216879G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly24Arg	rs766470128	missense variant	-	NC_000010.11:g.26216879G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala26Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26216885G>T	NCI-TCGA
GAD2	Q05329	p.Ala26Val	rs990840170	missense variant	-	NC_000010.11:g.26217610C>T	TOPMed,gnomAD
GAD2	Q05329	p.Ala28Thr	COSM1347379	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26217615G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Ala28Val	rs958697752	missense variant	-	NC_000010.11:g.26217616C>T	TOPMed,gnomAD
GAD2	Q05329	p.Cys30Ter	rs1158975599	stop gained	-	NC_000010.11:g.26217623C>A	gnomAD
GAD2	Q05329	p.Val32Ala	rs774469841	missense variant	-	NC_000010.11:g.26217628T>C	ExAC,gnomAD
GAD2	Q05329	p.Ala33Asp	COSM3414935	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26217631C>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Gln34Glu	rs992710798	missense variant	-	NC_000010.11:g.26217633C>G	TOPMed,gnomAD
GAD2	Q05329	p.Gln34His	rs767671941	missense variant	-	NC_000010.11:g.26217635G>C	ExAC,gnomAD
GAD2	Q05329	p.Lys35Arg	rs1321151133	missense variant	-	NC_000010.11:g.26217637A>G	gnomAD
GAD2	Q05329	p.Phe36Leu	rs775807612	missense variant	-	NC_000010.11:g.26217641C>G	ExAC,gnomAD
GAD2	Q05329	p.Thr37Met	rs1429001547	missense variant	-	NC_000010.11:g.26217643C>T	TOPMed
GAD2	Q05329	p.Gly38Ser	rs1279360536	missense variant	-	NC_000010.11:g.26217645G>A	TOPMed,gnomAD
GAD2	Q05329	p.Gly38Asp	rs1327631130	missense variant	-	NC_000010.11:g.26217646G>A	gnomAD
GAD2	Q05329	p.Gly41Arg	rs764530401	missense variant	-	NC_000010.11:g.26217654G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn42Lys	rs369367874	missense variant	-	NC_000010.11:g.26217659C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn42Ser	rs754328283	missense variant	-	NC_000010.11:g.26217658A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn42Thr	rs754328283	missense variant	-	NC_000010.11:g.26217658A>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn42His	rs375835846	missense variant	-	NC_000010.11:g.26217657A>C	ESP,TOPMed,gnomAD
GAD2	Q05329	p.Cys45Arg	rs1311212033	missense variant	-	NC_000010.11:g.26217666T>C	TOPMed
GAD2	Q05329	p.Cys45Phe	rs765976449	missense variant	-	NC_000010.11:g.26217667G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala46Gly	rs750087314	missense variant	-	NC_000010.11:g.26217842C>G	TOPMed,gnomAD
GAD2	Q05329	p.Ala46Val	rs750087314	missense variant	-	NC_000010.11:g.26217842C>T	TOPMed,gnomAD
GAD2	Q05329	p.Ala46Pro	rs754627728	missense variant	-	NC_000010.11:g.26217669G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala46Thr	rs754627728	missense variant	-	NC_000010.11:g.26217669G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Leu47Val	rs1298501963	missense variant	-	NC_000010.11:g.26217844C>G	TOPMed
GAD2	Q05329	p.Gly50Arg	rs374182148	missense variant	-	NC_000010.11:g.26217853G>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp51Gly	rs1169275792	missense variant	-	NC_000010.11:g.26217857A>G	gnomAD
GAD2	Q05329	p.Asp51Asn	rs762229020	missense variant	-	NC_000010.11:g.26217856G>A	ExAC,gnomAD
GAD2	Q05329	p.Ala52Pro	rs773798708	missense variant	-	NC_000010.11:g.26217859G>C	ExAC,gnomAD
GAD2	Q05329	p.Pro55Leu	rs760213552	missense variant	-	NC_000010.11:g.26217869C>T	ExAC,gnomAD
GAD2	Q05329	p.Pro55Ala	rs752299714	missense variant	-	NC_000010.11:g.26217868C>G	ExAC,gnomAD
GAD2	Q05329	p.Ala56Thr	rs1303039205	missense variant	-	NC_000010.11:g.26217871G>A	gnomAD
GAD2	Q05329	p.Ser58Thr	rs753506834	missense variant	-	NC_000010.11:g.26217878G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser58Arg	rs756985033	missense variant	-	NC_000010.11:g.26217879C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly59Cys	rs1207503880	missense variant	-	NC_000010.11:g.26217880G>T	TOPMed,gnomAD
GAD2	Q05329	p.Gly59Arg	rs1207503880	missense variant	-	NC_000010.11:g.26217880G>C	TOPMed,gnomAD
GAD2	Q05329	p.Gly60Trp	rs773194823	missense variant	-	NC_000010.11:g.26217883G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly60Arg	rs773194823	missense variant	-	NC_000010.11:g.26217883G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser61Gly	rs779979053	missense variant	-	NC_000010.11:g.26217886A>G	ExAC,gnomAD
GAD2	Q05329	p.Ser61Arg	rs567040121	missense variant	-	NC_000010.11:g.26217888C>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser61Arg	rs567040121	missense variant	-	NC_000010.11:g.26217888C>G	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro63His	rs781515916	missense variant	-	NC_000010.11:g.26217893C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro63Ser	rs768892863	missense variant	-	NC_000010.11:g.26217892C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro63Ala	rs768892863	missense variant	-	NC_000010.11:g.26217892C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro63Leu	rs781515916	missense variant	-	NC_000010.11:g.26217893C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro64Leu	rs770218244	missense variant	-	NC_000010.11:g.26217896C>T	ExAC,gnomAD
GAD2	Q05329	p.Pro64Thr	rs1313726527	missense variant	-	NC_000010.11:g.26217895C>A	gnomAD
GAD2	Q05329	p.Arg65Leu	rs532766939	missense variant	-	NC_000010.11:g.26217899G>T	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg65Gln	rs532766939	missense variant	-	NC_000010.11:g.26217899G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg65Pro	rs532766939	missense variant	-	NC_000010.11:g.26217899G>C	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg65Gly	rs1453690175	missense variant	-	NC_000010.11:g.26217898C>G	gnomAD
GAD2	Q05329	p.Ala66Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26217902C>A	NCI-TCGA
GAD2	Q05329	p.Ala68Ser	rs774750698	missense variant	-	NC_000010.11:g.26217907G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala68Val	rs1365808507	missense variant	-	NC_000010.11:g.26217908C>T	gnomAD
GAD2	Q05329	p.Ala68Thr	rs774750698	missense variant	-	NC_000010.11:g.26217907G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg69Gln	rs552818858	missense variant	-	NC_000010.11:g.26217911G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg69Trp	rs977758912	missense variant	-	NC_000010.11:g.26217910C>T	gnomAD
GAD2	Q05329	p.Lys70Met	rs1227718230	missense variant	-	NC_000010.11:g.26217914A>T	TOPMed,gnomAD
GAD2	Q05329	p.Ala72Thr	COSM4686188	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26217919G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Ala72Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26217920C>A	NCI-TCGA
GAD2	Q05329	p.Ala72Val	rs373957704	missense variant	-	NC_000010.11:g.26217920C>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp76Glu	rs1203106878	missense variant	-	NC_000010.11:g.26217933C>A	gnomAD
GAD2	Q05329	p.Gln77His	rs1251690584	missense variant	-	NC_000010.11:g.26217936G>T	gnomAD
GAD2	Q05329	p.Gln77Arg	rs571663605	missense variant	-	NC_000010.11:g.26217935A>G	gnomAD
GAD2	Q05329	p.Lys78Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26217939G>C	NCI-TCGA
GAD2	Q05329	p.Pro79Leu	rs554706175	missense variant	-	NC_000010.11:g.26217941C>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Pro79His	rs554706175	missense variant	-	NC_000010.11:g.26217941C>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Ser81Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26217947G>T	NCI-TCGA
GAD2	Q05329	p.Cys82Phe	rs533984842	missense variant	-	NC_000010.11:g.26217950G>T	1000Genomes,TOPMed,gnomAD
GAD2	Q05329	p.Cys82Ser	rs533984842	missense variant	-	NC_000010.11:g.26217950G>C	1000Genomes,TOPMed,gnomAD
GAD2	Q05329	p.Cys82Arg	rs766303869	missense variant	-	NC_000010.11:g.26217949T>C	ExAC,gnomAD
GAD2	Q05329	p.Cys82Tyr	rs533984842	missense variant	-	NC_000010.11:g.26217950G>A	1000Genomes,TOPMed,gnomAD
GAD2	Q05329	p.Ser83Pro	rs1420713888	missense variant	-	NC_000010.11:g.26217952T>C	gnomAD
GAD2	Q05329	p.Val87Ile	rs1374161085	missense variant	-	NC_000010.11:g.26217964G>A	TOPMed
GAD2	Q05329	p.Asn88Lys	rs755051252	missense variant	-	NC_000010.11:g.26217969C>A	ExAC,gnomAD
GAD2	Q05329	p.Tyr89Cys	rs1195701712	missense variant	-	NC_000010.11:g.26217971A>G	TOPMed
GAD2	Q05329	p.Ala90Val	rs748378088	missense variant	-	NC_000010.11:g.26217974C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala90Thr	rs201987095	missense variant	-	NC_000010.11:g.26217973G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.His93Pro	rs1357321101	missense variant	-	NC_000010.11:g.26217983A>C	TOPMed,gnomAD
GAD2	Q05329	p.His93Arg	rs1357321101	missense variant	-	NC_000010.11:g.26217983A>G	TOPMed,gnomAD
GAD2	Q05329	p.His93Gln	rs1233309313	missense variant	-	NC_000010.11:g.26217984T>A	gnomAD
GAD2	Q05329	p.Ala94Gly	rs777967730	missense variant	-	NC_000010.11:g.26217986C>G	ExAC,gnomAD
GAD2	Q05329	p.Ala94Val	COSM3985568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26217986C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Asp96Gly	COSM917318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26219043A>G	NCI-TCGA Cosmic
GAD2	Q05329	p.Pro99Thr	rs1391525380	missense variant	-	NC_000010.11:g.26219051C>A	TOPMed,gnomAD
GAD2	Q05329	p.Ala100Ser	rs1414884545	missense variant	-	NC_000010.11:g.26219054G>T	TOPMed,gnomAD
GAD2	Q05329	p.Ala100Val	COSM184157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26219055C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Ala100Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219055C>G	NCI-TCGA
GAD2	Q05329	p.Ala100Thr	rs1414884545	missense variant	-	NC_000010.11:g.26219054G>A	TOPMed,gnomAD
GAD2	Q05329	p.Cys101Arg	rs1175243832	missense variant	-	NC_000010.11:g.26219057T>C	gnomAD
GAD2	Q05329	p.Asp102Asn	rs139888003	missense variant	-	NC_000010.11:g.26219060G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg105Ser	rs1432458479	missense variant	-	NC_000010.11:g.26219071G>C	gnomAD
GAD2	Q05329	p.Arg105Lys	rs1363939020	missense variant	-	NC_000010.11:g.26219070G>A	TOPMed,gnomAD
GAD2	Q05329	p.Arg105Gly	rs770759157	missense variant	-	NC_000010.11:g.26219069A>G	ExAC,gnomAD
GAD2	Q05329	p.Arg105Ser	rs1432458479	missense variant	-	NC_000010.11:g.26219071G>T	gnomAD
GAD2	Q05329	p.Pro106Thr	rs774348551	missense variant	-	NC_000010.11:g.26219072C>A	ExAC,gnomAD
GAD2	Q05329	p.Pro106His	COSM6129424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26219073C>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Leu108Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219080G>T	NCI-TCGA
GAD2	Q05329	p.Leu108Val	rs759513504	missense variant	-	NC_000010.11:g.26219078T>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala109Glu	COSM6065956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26219082C>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Gln112Glu	rs767519463	missense variant	-	NC_000010.11:g.26219090C>G	ExAC,gnomAD
GAD2	Q05329	p.Gln112Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219091A>T	NCI-TCGA
GAD2	Q05329	p.Asp113Glu	rs752701261	missense variant	-	NC_000010.11:g.26219095T>G	ExAC,gnomAD
GAD2	Q05329	p.Met115Val	rs1265720771	missense variant	-	NC_000010.11:g.26219099A>G	TOPMed
GAD2	Q05329	p.Met115Thr	rs577703778	missense variant	-	NC_000010.11:g.26219100T>C	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Asn116Tyr	rs144305290	missense variant	-	NC_000010.11:g.26219102A>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn116Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219102A>G	NCI-TCGA
GAD2	Q05329	p.Ile117Val	rs1314652429	missense variant	-	NC_000010.11:g.26219105A>G	TOPMed
GAD2	Q05329	p.Gln120Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26219114C>T	NCI-TCGA
GAD2	Q05329	p.Val122Ala	rs375194565	missense variant	-	NC_000010.11:g.26219121T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val122Met	rs1228879530	missense variant	-	NC_000010.11:g.26219120G>A	TOPMed
GAD2	Q05329	p.Val123Leu	rs369441795	missense variant	-	NC_000010.11:g.26219123G>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val123Met	rs369441795	missense variant	-	NC_000010.11:g.26219123G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Lys124Asn	rs8190600	missense variant	-	NC_000010.11:g.26219128A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Lys124Asn	rs8190600	missense variant	-	NC_000010.11:g.26219128A>C	UniProt,dbSNP
GAD2	Q05329	p.Lys124Asn	VAR_018822	missense variant	-	NC_000010.11:g.26219128A>C	UniProt
GAD2	Q05329	p.Lys124Thr	rs1391709227	missense variant	-	NC_000010.11:g.26219127A>C	TOPMed
GAD2	Q05329	p.Phe126Leu	rs376925031	missense variant	-	NC_000010.11:g.26219132T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp127Asn	rs747528687	missense variant	-	NC_000010.11:g.26219135G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Asp127Asn	rs747528687	missense variant	-	NC_000010.11:g.26219135G>A	ExAC,gnomAD
GAD2	Q05329	p.Asp127His	rs747528687	missense variant	-	NC_000010.11:g.26219135G>C	ExAC,gnomAD
GAD2	Q05329	p.Asp127Gly	rs769286336	missense variant	-	NC_000010.11:g.26219136A>G	ExAC,gnomAD
GAD2	Q05329	p.Ser129Leu	rs562894920	missense variant	-	NC_000010.11:g.26219142C>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Ser129Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26219142C>G	NCI-TCGA
GAD2	Q05329	p.Ser129Leu	rs562894920	missense variant	-	NC_000010.11:g.26219142C>T	NCI-TCGA,NCI-TCGA Cosmic
GAD2	Q05329	p.Val132Leu	rs748959145	missense variant	-	NC_000010.11:g.26219150G>T	ExAC,gnomAD
GAD2	Q05329	p.Val132Met	rs748959145	missense variant	-	NC_000010.11:g.26219150G>A	ExAC,gnomAD
GAD2	Q05329	p.Ile133Thr	rs774176087	missense variant	-	NC_000010.11:g.26219154T>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp134Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219157A>T	NCI-TCGA
GAD2	Q05329	p.Asp134Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219156G>A	NCI-TCGA
GAD2	Q05329	p.Asp134Gly	rs1236664453	missense variant	-	NC_000010.11:g.26219157A>G	TOPMed,gnomAD
GAD2	Q05329	p.Phe135Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219160T>C	NCI-TCGA
GAD2	Q05329	p.Tyr137His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219165T>C	NCI-TCGA
GAD2	Q05329	p.Pro138Ser	COSM1675132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26219168C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Asn139His	rs1198578113	missense variant	-	NC_000010.11:g.26219171A>C	TOPMed
GAD2	Q05329	p.Asn139Lys	rs759352300	missense variant	-	NC_000010.11:g.26219173T>A	ExAC,gnomAD
GAD2	Q05329	p.Leu141Phe	COSM3367997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26219177C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Leu142Phe	rs1224821241	missense variant	-	NC_000010.11:g.26219180C>T	gnomAD
GAD2	Q05329	p.Gln143Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219184A>T	NCI-TCGA
GAD2	Q05329	p.Gln143Arg	rs1268113047	missense variant	-	NC_000010.11:g.26219184A>G	gnomAD
GAD2	Q05329	p.Glu144Ter	rs772002515	stop gained	-	NC_000010.11:g.26219186G>T	ExAC,gnomAD
GAD2	Q05329	p.Glu144Ala	rs1215678092	missense variant	-	NC_000010.11:g.26219187A>C	gnomAD
GAD2	Q05329	p.Tyr145Asn	rs1434166489	missense variant	-	NC_000010.11:g.26219189T>A	TOPMed
GAD2	Q05329	p.Trp147Cys	rs147809083	missense variant	-	NC_000010.11:g.26219197G>C	ESP,ExAC,gnomAD
GAD2	Q05329	p.Glu148Asp	rs1267570341	missense variant	-	NC_000010.11:g.26219200A>C	TOPMed
GAD2	Q05329	p.Glu148Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26219198G>T	NCI-TCGA
GAD2	Q05329	p.Ala150Glu	COSM683570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26219205C>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Ala150Thr	rs1451275808	missense variant	-	NC_000010.11:g.26219204G>A	gnomAD
GAD2	Q05329	p.Pro153Gln	rs2839672	missense variant	-	NC_000010.11:g.26219214C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro153Leu	rs2839672	missense variant	-	NC_000010.11:g.26219214C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gln154Lys	rs764219976	missense variant	-	NC_000010.11:g.26219216C>A	ExAC,gnomAD
GAD2	Q05329	p.Glu157Gly	rs753912290	missense variant	-	NC_000010.11:g.26219226A>G	ExAC,gnomAD
GAD2	Q05329	p.Glu157Lys	rs1411219792	missense variant	-	NC_000010.11:g.26219225G>A	gnomAD
GAD2	Q05329	p.Glu158Gly	rs765338722	missense variant	-	NC_000010.11:g.26219229A>G	ExAC,gnomAD
GAD2	Q05329	p.Ile159Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26219233T>G	NCI-TCGA
GAD2	Q05329	p.Met161Lys	rs750667725	missense variant	-	NC_000010.11:g.26219238T>A	ExAC,gnomAD
GAD2	Q05329	p.His162Leu	rs1321248789	missense variant	-	NC_000010.11:g.26219241A>T	gnomAD
GAD2	Q05329	p.Gln164Glu	rs758705662	missense variant	-	NC_000010.11:g.26219246C>G	ExAC,gnomAD
GAD2	Q05329	p.Ala170Glu	rs182248090	missense variant	-	NC_000010.11:g.26219265C>A	1000Genomes
GAD2	Q05329	p.Ala170Thr	rs1266874480	missense variant	-	NC_000010.11:g.26219264G>A	NCI-TCGA
GAD2	Q05329	p.Ala170Glu	rs182248090	missense variant	-	NC_000010.11:g.26219265C>A	NCI-TCGA,NCI-TCGA Cosmic
GAD2	Q05329	p.Ala170Thr	rs1266874480	missense variant	-	NC_000010.11:g.26219264G>A	TOPMed
GAD2	Q05329	p.Ile171Val	rs1284870040	missense variant	-	NC_000010.11:g.26219267A>G	gnomAD
GAD2	Q05329	p.Gly174Glu	rs984510156	missense variant	-	NC_000010.11:g.26223887G>A	TOPMed
GAD2	Q05329	p.Arg177Gly	rs1173651278	missense variant	-	NC_000010.11:g.26223895A>G	gnomAD
GAD2	Q05329	p.Tyr178Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26223900C>A	NCI-TCGA
GAD2	Q05329	p.Tyr178His	rs1296507492	missense variant	-	NC_000010.11:g.26223898T>C	TOPMed
GAD2	Q05329	p.Phe179Leu	rs745501249	missense variant	-	NC_000010.11:g.26223901T>C	ExAC,gnomAD
GAD2	Q05329	p.Asn180Ser	rs568262065	missense variant	-	NC_000010.11:g.26223905A>G	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Gln181Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26223907C>T	NCI-TCGA
GAD2	Q05329	p.Thr184Ala	rs1366113164	missense variant	-	NC_000010.11:g.26223916A>G	gnomAD
GAD2	Q05329	p.Leu186Phe	rs746740047	missense variant	-	NC_000010.11:g.26223924G>C	ExAC,gnomAD
GAD2	Q05329	p.Met188Val	rs533729819	missense variant	-	NC_000010.11:g.26223928A>G	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Met188Thr	rs776375840	missense variant	-	NC_000010.11:g.26223929T>C	ExAC,gnomAD
GAD2	Q05329	p.Val189Ala	rs375300049	missense variant	-	NC_000010.11:g.26223932T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val189Leu	rs748122759	missense variant	-	NC_000010.11:g.26223931G>C	ExAC,gnomAD
GAD2	Q05329	p.Gly190SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.26223932_26223936TTGGA>-	NCI-TCGA
GAD2	Q05329	p.Ala192Thr	rs1198171592	missense variant	-	NC_000010.11:g.26223940G>A	TOPMed,gnomAD
GAD2	Q05329	p.Trp195Ter	COSM917321	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.26223951G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Trp195Cys	rs1467175955	missense variant	-	NC_000010.11:g.26223951G>T	gnomAD
GAD2	Q05329	p.Thr197Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26223956C>T	NCI-TCGA
GAD2	Q05329	p.Thr197Pro	rs763143772	missense variant	-	NC_000010.11:g.26223955A>C	ExAC,gnomAD
GAD2	Q05329	p.Ser198Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26223959C>A	NCI-TCGA
GAD2	Q05329	p.Thr199Ile	rs774652278	missense variant	-	NC_000010.11:g.26223962C>T	ExAC,gnomAD
GAD2	Q05329	p.Thr202Ala	rs759757632	missense variant	-	NC_000010.11:g.26223970A>G	ExAC,gnomAD
GAD2	Q05329	p.Met204Ile	rs61735922	missense variant	-	NC_000010.11:g.26224539G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met204Leu	rs553646520	missense variant	-	NC_000010.11:g.26223976A>T	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met204Val	rs553646520	missense variant	-	NC_000010.11:g.26223976A>G	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met204Leu	rs553646520	missense variant	-	NC_000010.11:g.26223976A>C	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Tyr207Phe	rs771522366	missense variant	-	NC_000010.11:g.26224547A>T	NCI-TCGA
GAD2	Q05329	p.Tyr207Cys	rs771522366	missense variant	-	NC_000010.11:g.26224547A>G	TOPMed,gnomAD
GAD2	Q05329	p.Tyr207Phe	rs771522366	missense variant	-	NC_000010.11:g.26224547A>T	TOPMed,gnomAD
GAD2	Q05329	p.Glu208Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26224549G>A	NCI-TCGA
GAD2	Q05329	p.Glu208Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26224549G>C	NCI-TCGA
GAD2	Q05329	p.Pro211Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26224558C>A	NCI-TCGA
GAD2	Q05329	p.Pro211Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26224559C>A	NCI-TCGA
GAD2	Q05329	p.Leu215Phe	rs1203283639	missense variant	-	NC_000010.11:g.26224570C>T	TOPMed,gnomAD
GAD2	Q05329	p.Leu216Ser	rs772307886	missense variant	-	NC_000010.11:g.26224574T>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val219Asp	rs77034511	missense variant	-	NC_000010.11:g.26224583T>A	1000Genomes,ExAC
GAD2	Q05329	p.Lys222Asn	COSM3670513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26224593G>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Arg225Lys	COSM3436857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26224601G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Glu226Lys	rs761233439	missense variant	-	NC_000010.11:g.26224603G>A	ExAC,gnomAD
GAD2	Q05329	p.Glu226Lys	rs761233439	missense variant	-	NC_000010.11:g.26224603G>A	NCI-TCGA
GAD2	Q05329	p.Glu226Ter	rs761233439	stop gained	-	NC_000010.11:g.26224603G>T	NCI-TCGA
GAD2	Q05329	p.Glu226Ter	rs761233439	stop gained	-	NC_000010.11:g.26224603G>T	ExAC,gnomAD
GAD2	Q05329	p.Ile227Val	rs1199121907	missense variant	-	NC_000010.11:g.26224606A>G	gnomAD
GAD2	Q05329	p.Ile228Val	rs762496645	missense variant	-	NC_000010.11:g.26224609A>G	ExAC,gnomAD
GAD2	Q05329	p.Ile228Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26224609A>T	NCI-TCGA
GAD2	Q05329	p.Ile228Thr	rs143186590	missense variant	-	NC_000010.11:g.26224610T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile228Thr	rs143186590	missense variant	-	NC_000010.11:g.26224610T>C	NCI-TCGA
GAD2	Q05329	p.Gly229Arg	rs1276993275	missense variant	-	NC_000010.11:g.26224612G>C	TOPMed
GAD2	Q05329	p.Trp230Ter	COSM917322	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.26224617G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Trp230Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26224617G>T	NCI-TCGA
GAD2	Q05329	p.Trp230Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26224616G>C	NCI-TCGA
GAD2	Q05329	p.Pro231Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26224618C>T	NCI-TCGA
GAD2	Q05329	p.Gly232Glu	rs2839673	missense variant	-	NC_000010.11:g.26224622G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly233Cys	rs780831426	missense variant	-	NC_000010.11:g.26224624G>T	ExAC,gnomAD
GAD2	Q05329	p.Gly233Val	rs540733500	missense variant	-	NC_000010.11:g.26224625G>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Gly233Asp	rs540733500	missense variant	-	NC_000010.11:g.26224625G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Asp236Asn	rs779103489	missense variant	-	NC_000010.11:g.26224633G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp236Gly	rs746055295	missense variant	-	NC_000010.11:g.26224634A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile238Thr	rs950190434	missense variant	-	NC_000010.11:g.26224640T>C	TOPMed
GAD2	Q05329	p.Ile238Thr	rs950190434	missense variant	-	NC_000010.11:g.26224640T>C	NCI-TCGA
GAD2	Q05329	p.Gly242Ser	rs1366988930	missense variant	-	NC_000010.11:g.26224651G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Gly242Ser	rs1366988930	missense variant	-	NC_000010.11:g.26224651G>A	gnomAD
GAD2	Q05329	p.Gly242Asp	rs1376448340	missense variant	-	NC_000010.11:g.26229662G>A	gnomAD
GAD2	Q05329	p.Ala244Thr	rs372039859	missense variant	-	NC_000010.11:g.26229667G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala244Ser	rs372039859	missense variant	-	NC_000010.11:g.26229667G>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile245Val	rs1281281237	missense variant	-	NC_000010.11:g.26229670A>G	TOPMed,gnomAD
GAD2	Q05329	p.Asn247Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26229677A>G	NCI-TCGA
GAD2	Q05329	p.Tyr249His	COSM917323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26229682T>C	NCI-TCGA Cosmic
GAD2	Q05329	p.Ala250Val	COSM141286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26229686C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Met251Ile	rs1209422137	missense variant	-	NC_000010.11:g.26229690G>C	gnomAD
GAD2	Q05329	p.Met251Val	rs201461179	missense variant	-	NC_000010.11:g.26229688A>G	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala254Ser	rs758427958	missense variant	-	NC_000010.11:g.26229697G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala254Thr	rs758427958	missense variant	-	NC_000010.11:g.26229697G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg255Ser	rs747241251	missense variant	-	NC_000010.11:g.26229700C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg255Cys	rs747241251	missense variant	-	NC_000010.11:g.26229700C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Lys257Glu	rs1448598250	missense variant	-	NC_000010.11:g.26229706A>G	gnomAD
GAD2	Q05329	p.Met258Val	rs1189585091	missense variant	-	NC_000010.11:g.26229709A>G	TOPMed
GAD2	Q05329	p.Met258Ile	rs981208590	missense variant	-	NC_000010.11:g.26229711G>A	TOPMed
GAD2	Q05329	p.Pro260Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26229715C>T	NCI-TCGA
GAD2	Q05329	p.Glu264Val	rs748643830	missense variant	-	NC_000010.11:g.26229728A>T	ExAC,gnomAD
GAD2	Q05329	p.Glu264Lys	rs1414985700	missense variant	-	NC_000010.11:g.26229727G>A	gnomAD
GAD2	Q05329	p.Lys265Glu	rs770376976	missense variant	-	NC_000010.11:g.26229730A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly266Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26229733G>A	NCI-TCGA
GAD2	Q05329	p.Ala269Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26229743C>T	NCI-TCGA
GAD2	Q05329	p.Ala269Thr	rs52834041	missense variant	-	NC_000010.11:g.26229742G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg272Trp	rs150392847	missense variant	-	NC_000010.11:g.26229751A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg272Ser	rs1055520852	missense variant	-	NC_000010.11:g.26229753G>C	TOPMed,gnomAD
GAD2	Q05329	p.Arg272Gly	rs150392847	missense variant	-	NC_000010.11:g.26229751A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile274Val	rs1308072499	missense variant	-	NC_000010.11:g.26229757A>G	TOPMed
GAD2	Q05329	p.Thr277Met	rs753672041	missense variant	-	NC_000010.11:g.26229767C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Glu279Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26229772G>A	NCI-TCGA
GAD2	Q05329	p.His280Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26229775C>T	NCI-TCGA
GAD2	Q05329	p.Ser281Thr	rs1244885241	missense variant	-	NC_000010.11:g.26245922G>C	TOPMed,gnomAD
GAD2	Q05329	p.His282Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26245924C>A	NCI-TCGA
GAD2	Q05329	p.Ser284Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26245931C>A	NCI-TCGA
GAD2	Q05329	p.Ser284Cys	rs1295046935	missense variant	-	NC_000010.11:g.26245931C>G	TOPMed
GAD2	Q05329	p.Leu285Phe	COSM6129423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26245933C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Lys286Asn	COSM427415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26245938G>C	NCI-TCGA Cosmic
GAD2	Q05329	p.Lys287Thr	rs746471874	missense variant	-	NC_000010.11:g.26245940A>C	ExAC,gnomAD
GAD2	Q05329	p.Gly288Glu	COSM3436860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26245943G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Gly288Ala	rs768167687	missense variant	-	NC_000010.11:g.26245943G>C	ExAC,gnomAD
GAD2	Q05329	p.Ala291Thr	rs776279642	missense variant	-	NC_000010.11:g.26245951G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly293Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26245957G>A	NCI-TCGA
GAD2	Q05329	p.Ile294Thr	rs138151086	missense variant	-	NC_000010.11:g.26245961T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile294Phe	rs1360083988	missense variant	-	NC_000010.11:g.26245960A>T	TOPMed
GAD2	Q05329	p.Thr296Ile	rs769617908	missense variant	-	NC_000010.11:g.26245967C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr296Lys	rs769617908	missense variant	-	NC_000010.11:g.26245967C>A	NCI-TCGA
GAD2	Q05329	p.Thr296Arg	rs769617908	missense variant	-	NC_000010.11:g.26245967C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr296Lys	rs769617908	missense variant	-	NC_000010.11:g.26245967C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr296Ala	rs1421524768	missense variant	-	NC_000010.11:g.26245966A>G	TOPMed
GAD2	Q05329	p.Asp297Asn	COSM3436861	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26245969G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Asp297Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26245969G>T	NCI-TCGA
GAD2	Q05329	p.Ser298Gly	rs1189058925	missense variant	-	NC_000010.11:g.26245972A>G	gnomAD
GAD2	Q05329	p.Ser298Asn	rs772931919	missense variant	-	NC_000010.11:g.26245973G>A	ExAC,gnomAD
GAD2	Q05329	p.Val299Met	rs1161349496	missense variant	-	NC_000010.11:g.26245975G>A	gnomAD
GAD2	Q05329	p.Ile302Leu	COSM917324	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26245984A>C	NCI-TCGA Cosmic
GAD2	Q05329	p.Lys303Asn	rs1269966305	missense variant	-	NC_000010.11:g.26245989A>C	TOPMed
GAD2	Q05329	p.Cys304Phe	COSM427416	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26245991G>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Cys304Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26245991G>A	NCI-TCGA
GAD2	Q05329	p.Cys304Arg	rs766382843	missense variant	-	NC_000010.11:g.26245990T>C	ExAC,gnomAD
GAD2	Q05329	p.Asp305Asn	rs1430846922	missense variant	-	NC_000010.11:g.26245993G>A	gnomAD
GAD2	Q05329	p.Asp305His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26245993G>C	NCI-TCGA
GAD2	Q05329	p.Glu306Gln	COSM683566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26245996G>C	NCI-TCGA Cosmic
GAD2	Q05329	p.Gly308Glu	COSM1686112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26269121G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Met310Ile	rs1294603687	missense variant	-	NC_000010.11:g.26269128G>A	gnomAD
GAD2	Q05329	p.Met310Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26269126A>G	NCI-TCGA
GAD2	Q05329	p.Ile311Asn	rs1362262248	missense variant	-	NC_000010.11:g.26269130T>A	TOPMed
GAD2	Q05329	p.Pro312Ser	COSM5836714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26269132C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Ser313Phe	rs144416490	missense variant	-	NC_000010.11:g.26269136C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp314His	rs754102539	missense variant	-	NC_000010.11:g.26269138G>C	ExAC,gnomAD
GAD2	Q05329	p.Asp314Asn	rs754102539	missense variant	-	NC_000010.11:g.26269138G>A	NCI-TCGA
GAD2	Q05329	p.Asp314Asn	rs754102539	missense variant	-	NC_000010.11:g.26269138G>A	ExAC,gnomAD
GAD2	Q05329	p.Arg318Ser	COSM683565	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26269152G>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Glu321Gln	rs184183531	missense variant	-	NC_000010.11:g.26269159G>C	1000Genomes,ExAC,TOPMed
GAD2	Q05329	p.Lys325Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26269173A>C	NCI-TCGA
GAD2	Q05329	p.Lys325Arg	rs1269582963	missense variant	-	NC_000010.11:g.26269172A>G	gnomAD
GAD2	Q05329	p.Gly326Glu	COSM4013500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26270641G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Phe327Leu	rs758795744	missense variant	-	NC_000010.11:g.26270645T>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val328Ala	rs766748892	missense variant	-	NC_000010.11:g.26270647T>C	ExAC,gnomAD
GAD2	Q05329	p.Pro329Ser	rs1258625807	missense variant	-	NC_000010.11:g.26270649C>T	gnomAD
GAD2	Q05329	p.Pro329Leu	rs1489656438	missense variant	-	NC_000010.11:g.26270650C>T	gnomAD
GAD2	Q05329	p.Phe330Val	COSM1321404	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26270652T>G	NCI-TCGA Cosmic
GAD2	Q05329	p.Phe330Leu	COSM683563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26270654C>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Val332Met	rs182756899	missense variant	-	NC_000010.11:g.26270658G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Ala334Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26270665C>T	NCI-TCGA
GAD2	Q05329	p.Val340Met	rs757006706	missense variant	-	NC_000010.11:g.26270682G>A	ExAC,gnomAD
GAD2	Q05329	p.Val340SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.26270680_26270701CCGTGTACGGAGCATTTGACCC>-	NCI-TCGA
GAD2	Q05329	p.Ala343Thr	rs1157168097	missense variant	-	NC_000010.11:g.26270691G>A	gnomAD
GAD2	Q05329	p.Phe344Leu	rs745607268	missense variant	-	NC_000010.11:g.26270694T>C	ExAC,gnomAD
GAD2	Q05329	p.Asp345Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26270697G>T	NCI-TCGA
GAD2	Q05329	p.Pro346Leu	rs775222691	missense variant	-	NC_000010.11:g.26270701C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro346Arg	rs775222691	missense variant	-	NC_000010.11:g.26270701C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro346Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26270700C>G	NCI-TCGA
GAD2	Q05329	p.Pro346Ser	rs147373152	missense variant	-	NC_000010.11:g.26270700C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Leu347Val	rs747034092	missense variant	-	NC_000010.11:g.26270703C>G	ExAC,gnomAD
GAD2	Q05329	p.Ala351Thr	rs768604380	missense variant	-	NC_000010.11:g.26270715G>A	NCI-TCGA
GAD2	Q05329	p.Ala351Thr	rs768604380	missense variant	-	NC_000010.11:g.26270715G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Cys354Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26270724T>C	NCI-TCGA
GAD2	Q05329	p.Lys355Arg	rs1238881524	missense variant	-	NC_000010.11:g.26270728A>G	TOPMed,gnomAD
GAD2	Q05329	p.Tyr357Cys	rs761992421	missense variant	-	NC_000010.11:g.26270734A>G	ExAC,gnomAD
GAD2	Q05329	p.Tyr357His	rs1350529387	missense variant	-	NC_000010.11:g.26270733T>C	TOPMed,gnomAD
GAD2	Q05329	p.Tyr357Cys	rs761992421	missense variant	-	NC_000010.11:g.26270734A>G	NCI-TCGA
GAD2	Q05329	p.Lys358Glu	rs1232927880	missense variant	-	NC_000010.11:g.26270736A>G	NCI-TCGA Cosmic
GAD2	Q05329	p.Lys358Glu	rs1232927880	missense variant	-	NC_000010.11:g.26270736A>G	gnomAD
GAD2	Q05329	p.Trp367Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26273643G>A	NCI-TCGA
GAD2	Q05329	p.Gly368ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.26273643G>-	NCI-TCGA
GAD2	Q05329	p.Gly369Arg	rs1289575575	missense variant	-	NC_000010.11:g.26273648G>A	gnomAD
GAD2	Q05329	p.Leu371Phe	rs1045840765	missense variant	-	NC_000010.11:g.26273656A>C	TOPMed,gnomAD
GAD2	Q05329	p.Met373Thr	rs781051495	missense variant	-	NC_000010.11:g.26273661T>C	ExAC,gnomAD
GAD2	Q05329	p.Met373Ile	rs748084780	missense variant	-	NC_000010.11:g.26273662G>A	ExAC,gnomAD
GAD2	Q05329	p.Arg375Gln	rs8190730	missense variant	-	NC_000010.11:g.26273667G>A	NCI-TCGA,NCI-TCGA Cosmic
GAD2	Q05329	p.Arg375Leu	rs8190730	missense variant	-	NC_000010.11:g.26273667G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg375Gln	rs8190730	missense variant	-	NC_000010.11:g.26273667G>A	UniProt,dbSNP
GAD2	Q05329	p.Arg375Gln	VAR_018824	missense variant	-	NC_000010.11:g.26273667G>A	UniProt
GAD2	Q05329	p.Arg375Gln	rs8190730	missense variant	-	NC_000010.11:g.26273667G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg375Ter	rs897876627	stop gained	-	NC_000010.11:g.26273666C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Arg375Ter	rs897876627	stop gained	-	NC_000010.11:g.26273666C>T	TOPMed,gnomAD
GAD2	Q05329	p.Lys376Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26273669A>G	NCI-TCGA
GAD2	Q05329	p.Lys376Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26273669A>T	NCI-TCGA
GAD2	Q05329	p.Ser382Ile	rs189305962	missense variant	-	NC_000010.11:g.26273688G>T	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser382Arg	rs1204006170	missense variant	-	NC_000010.11:g.26273689T>A	gnomAD
GAD2	Q05329	p.Gly383Val	COSM116383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26273691G>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Gly383Asp	rs774455272	missense variant	-	NC_000010.11:g.26273691G>A	ExAC,gnomAD
GAD2	Q05329	p.Val384Met	rs772567180	missense variant	-	NC_000010.11:g.26273693G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Glu385Asp	rs1209663550	missense variant	-	NC_000010.11:g.26273698G>T	gnomAD
GAD2	Q05329	p.Arg386Gly	rs776135250	missense variant	-	NC_000010.11:g.26273699A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn388Ile	COSM683561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26281014A>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Ser389Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26281017C>A	NCI-TCGA
GAD2	Q05329	p.Thr391Met	rs1406817819	missense variant	-	NC_000010.11:g.26281023C>T	TOPMed,gnomAD
GAD2	Q05329	p.Pro394Leu	rs758930871	missense variant	-	NC_000010.11:g.26281032C>T	ExAC,gnomAD
GAD2	Q05329	p.Met397Ile	rs1366667416	missense variant	-	NC_000010.11:g.26281042G>A	gnomAD
GAD2	Q05329	p.Met397Ile	rs1366667416	missense variant	-	NC_000010.11:g.26281042G>T	gnomAD
GAD2	Q05329	p.Met398Ile	rs1239661345	missense variant	-	NC_000010.11:g.26281045G>A	TOPMed
GAD2	Q05329	p.Gly399Ala	rs1404877595	missense variant	-	NC_000010.11:g.26281047G>C	gnomAD
GAD2	Q05329	p.Val400Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26281049G>A	NCI-TCGA
GAD2	Q05329	p.Cys404Ser	rs777027610	missense variant	-	NC_000010.11:g.26281061T>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala406Val	rs762468774	missense variant	-	NC_000010.11:g.26281068C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val409Leu	COSM6065953	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26281076G>C	NCI-TCGA Cosmic
GAD2	Q05329	p.Arg410Ile	rs759246972	missense variant	-	NC_000010.11:g.26281080G>T	ExAC,gnomAD
GAD2	Q05329	p.Arg410Gly	rs774051902	missense variant	-	NC_000010.11:g.26281079A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg410Thr	rs759246972	missense variant	-	NC_000010.11:g.26281080G>C	ExAC,gnomAD
GAD2	Q05329	p.Glu411Val	rs767281811	missense variant	-	NC_000010.11:g.26281083A>T	ExAC,gnomAD
GAD2	Q05329	p.Glu412Asp	COSM4013501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26281087G>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Gly413Ala	rs780366876	missense variant	-	NC_000010.11:g.26286346G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly413Ter	COSM1321403	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.26286345G>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Gly413Arg	rs185111133	missense variant	-	NC_000010.11:g.26286345G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn419Ser	rs1405661290	missense variant	-	NC_000010.11:g.26286364A>G	gnomAD
GAD2	Q05329	p.Gln420Lys	rs778287000	missense variant	-	NC_000010.11:g.26286366C>A	NCI-TCGA
GAD2	Q05329	p.Gln420Lys	rs778287000	missense variant	-	NC_000010.11:g.26286366C>A	ExAC,gnomAD
GAD2	Q05329	p.Gln420His	rs1266397210	missense variant	-	NC_000010.11:g.26286368A>T	gnomAD
GAD2	Q05329	p.His422Tyr	rs745321095	missense variant	-	NC_000010.11:g.26286372C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Tyr425Ter	COSM3670515	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.26286383C>G	NCI-TCGA Cosmic
GAD2	Q05329	p.Leu426Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26286384C>T	NCI-TCGA
GAD2	Q05329	p.Gln429Pro	rs771571634	missense variant	-	NC_000010.11:g.26286394A>C	ExAC,gnomAD
GAD2	Q05329	p.Tyr437His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26286417T>C	NCI-TCGA
GAD2	Q05329	p.Tyr437Cys	rs775115743	missense variant	-	NC_000010.11:g.26286418A>G	ExAC,gnomAD
GAD2	Q05329	p.Ala443Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26286435G>A	NCI-TCGA
GAD2	Q05329	p.Cys446Tyr	COSM272709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26286445G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Cys446Ter	rs760375732	stop gained	-	NC_000010.11:g.26286446C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly447Arg	rs376780859	missense variant	-	NC_000010.11:g.26286447G>A	ESP,ExAC,gnomAD
GAD2	Q05329	p.Arg448Cys	rs1263303585	missense variant	-	NC_000010.11:g.26286450C>T	gnomAD
GAD2	Q05329	p.Arg448His	COSM1347382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26286451G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Val450Ile	rs369617935	missense variant	-	NC_000010.11:g.26286456G>A	NCI-TCGA,NCI-TCGA Cosmic
GAD2	Q05329	p.Val450Ile	rs369617935	missense variant	-	NC_000010.11:g.26286456G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp451Gly	rs1388620304	missense variant	-	NC_000010.11:g.26286460A>G	gnomAD
GAD2	Q05329	p.Asp451Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26286460A>T	NCI-TCGA
GAD2	Q05329	p.Val452Leu	COSM6065952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26286462G>C	NCI-TCGA Cosmic
GAD2	Q05329	p.Phe453Tyr	rs765035926	missense variant	-	NC_000010.11:g.26286466T>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Trp459Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26286484G>T	NCI-TCGA
GAD2	Q05329	p.Ala461Thr	COSM3436866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26286489G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Gly463Glu	COSM6129420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26292466G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Thr464Ile	rs1402582913	missense variant	-	NC_000010.11:g.26292469C>T	gnomAD
GAD2	Q05329	p.Thr465Ser	rs764513059	missense variant	-	NC_000010.11:g.26292472C>G	ExAC,gnomAD
GAD2	Q05329	p.Thr465Pro	rs1054381746	missense variant	-	NC_000010.11:g.26292471A>C	TOPMed
GAD2	Q05329	p.Gly466Trp	COSM917329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26292474G>T	NCI-TCGA Cosmic
GAD2	Q05329	p.Ala469Val	rs1259318388	missense variant	-	NC_000010.11:g.26292484C>T	TOPMed,gnomAD
GAD2	Q05329	p.Ala469Val	rs1259318388	missense variant	-	NC_000010.11:g.26292484C>T	NCI-TCGA Cosmic
GAD2	Q05329	p.His470Arg	rs779421004	missense variant	-	NC_000010.11:g.26292487A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp472Gly	rs1291721733	missense variant	-	NC_000010.11:g.26292493A>G	gnomAD
GAD2	Q05329	p.Cys474Arg	rs746462360	missense variant	-	NC_000010.11:g.26292498T>C	ExAC,gnomAD
GAD2	Q05329	p.Leu475Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26292502T>C	NCI-TCGA
GAD2	Q05329	p.Leu477Val	rs1418711112	missense variant	-	NC_000010.11:g.26292507T>G	gnomAD
GAD2	Q05329	p.Ala478Thr	rs1050757379	missense variant	-	NC_000010.11:g.26292510G>A	NCI-TCGA
GAD2	Q05329	p.Ala478Thr	rs1050757379	missense variant	-	NC_000010.11:g.26292510G>A	-
GAD2	Q05329	p.Glu479Lys	rs1180017852	missense variant	-	NC_000010.11:g.26292513G>A	gnomAD
GAD2	Q05329	p.Glu479Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26292515G>T	NCI-TCGA
GAD2	Q05329	p.Leu481Val	rs1187075586	missense variant	-	NC_000010.11:g.26292519T>G	TOPMed
GAD2	Q05329	p.Tyr482Cys	rs761350624	missense variant	-	NC_000010.11:g.26292523A>G	NCI-TCGA,NCI-TCGA Cosmic
GAD2	Q05329	p.Tyr482Cys	rs761350624	missense variant	-	NC_000010.11:g.26292523A>G	TOPMed,gnomAD
GAD2	Q05329	p.Ile484Asn	rs780651528	missense variant	-	NC_000010.11:g.26292529T>A	ExAC,gnomAD
GAD2	Q05329	p.Lys486Asn	COSM917331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26292536A>C	NCI-TCGA Cosmic
GAD2	Q05329	p.Asn487ThrPheSerTerUnkUnk	COSM2134072	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.26292533A>-	NCI-TCGA Cosmic
GAD2	Q05329	p.Asn487LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.26292532_26292533insA	NCI-TCGA
GAD2	Q05329	p.Arg488Ter	rs184027366	stop gained	-	NC_000010.11:g.26292540C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly490Val	rs993166149	missense variant	-	NC_000010.11:g.26292547G>T	TOPMed
GAD2	Q05329	p.Gly490Arg	rs1485837054	missense variant	-	NC_000010.11:g.26292546G>A	TOPMed
GAD2	Q05329	p.Gly490Val	rs993166149	missense variant	-	NC_000010.11:g.26292547G>T	NCI-TCGA
GAD2	Q05329	p.Met493Ile	rs1364914782	missense variant	-	NC_000010.11:g.26292557G>A	gnomAD
GAD2	Q05329	p.Phe495Cys	rs1307034080	missense variant	-	NC_000010.11:g.26292562T>G	TOPMed
GAD2	Q05329	p.Asp496Val	rs375743827	missense variant	-	NC_000010.11:g.26292565A>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Lys498Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26292572G>T	NCI-TCGA
GAD2	Q05329	p.Lys498Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26292570A>G	NCI-TCGA
GAD2	Q05329	p.Pro499His	COSM917332	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26292903C>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Gln500Arg	rs1381133992	missense variant	-	NC_000010.11:g.26292906A>G	gnomAD
GAD2	Q05329	p.Gln500Pro	rs1381133992	missense variant	-	NC_000010.11:g.26292906A>C	gnomAD
GAD2	Q05329	p.Thr502Ser	rs1317838900	missense variant	-	NC_000010.11:g.26292911A>T	TOPMed
GAD2	Q05329	p.Thr502SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.26292908_26292930CACACAAATGTCTGCTTCTGGTA>-	NCI-TCGA
GAD2	Q05329	p.Val504Ala	rs751886371	missense variant	-	NC_000010.11:g.26292918T>C	TOPMed,gnomAD
GAD2	Q05329	p.Cys505Arg	rs1461947257	missense variant	-	NC_000010.11:g.26292920T>C	gnomAD
GAD2	Q05329	p.Phe506Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26292923T>C	NCI-TCGA
GAD2	Q05329	p.Phe506Ser	rs1014503957	missense variant	-	NC_000010.11:g.26292924T>C	gnomAD
GAD2	Q05329	p.Phe506Cys	rs1014503957	missense variant	-	NC_000010.11:g.26292924T>G	gnomAD
GAD2	Q05329	p.Trp507Arg	rs150583361	missense variant	-	NC_000010.11:g.26292926T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile509Leu	rs1482175569	missense variant	-	NC_000010.11:g.26292932A>C	TOPMed,gnomAD
GAD2	Q05329	p.Ile509Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26292932A>T	NCI-TCGA
GAD2	Q05329	p.Ile509Thr	rs1452860008	missense variant	-	NC_000010.11:g.26292933T>C	TOPMed
GAD2	Q05329	p.Ile509Val	rs1482175569	missense variant	-	NC_000010.11:g.26292932A>G	TOPMed,gnomAD
GAD2	Q05329	p.Pro510Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26292936C>T	NCI-TCGA
GAD2	Q05329	p.Pro510Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26292935C>T	NCI-TCGA
GAD2	Q05329	p.Leu513Trp	rs1262383631	missense variant	-	NC_000010.11:g.26292945T>G	gnomAD
GAD2	Q05329	p.Arg514His	rs777588143	missense variant	-	NC_000010.11:g.26292948G>A	ExAC,gnomAD
GAD2	Q05329	p.Arg514Leu	rs777588143	missense variant	-	NC_000010.11:g.26292948G>T	ExAC,gnomAD
GAD2	Q05329	p.Arg514Pro	rs777588143	missense variant	-	NC_000010.11:g.26292948G>C	ExAC,gnomAD
GAD2	Q05329	p.Thr515Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26292950A>G	NCI-TCGA
GAD2	Q05329	p.Asp518Glu	rs967504625	missense variant	-	NC_000010.11:g.26292961C>A	TOPMed
GAD2	Q05329	p.Glu521Lys	rs531350793	missense variant	-	NC_000010.11:g.26292968G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Glu521Gly	rs745888753	missense variant	-	NC_000010.11:g.26292969A>G	ExAC,gnomAD
GAD2	Q05329	p.Arg522Lys	rs377565192	missense variant	-	NC_000010.11:g.26292972G>A	NCI-TCGA,NCI-TCGA Cosmic
GAD2	Q05329	p.Arg522Lys	rs377565192	missense variant	-	NC_000010.11:g.26292972G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met523Thr	rs775690793	missense variant	-	NC_000010.11:g.26292975T>C	ExAC,gnomAD
GAD2	Q05329	p.Met523Ile	rs760768178	missense variant	-	NC_000010.11:g.26292976G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met523Ile	rs760768178	missense variant	-	NC_000010.11:g.26292976G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser524Asn	rs534607306	missense variant	-	NC_000010.11:g.26292978G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg525Ser	rs762107590	missense variant	-	NC_000010.11:g.26292980C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg525His	rs1223100093	missense variant	-	NC_000010.11:g.26292981G>A	gnomAD
GAD2	Q05329	p.Arg525Cys	rs762107590	missense variant	-	NC_000010.11:g.26292980C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser527Leu	rs149742560	missense variant	-	NC_000010.11:g.26292987C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val529Met	rs766866002	missense variant	-	NC_000010.11:g.26300788G>A	ExAC,gnomAD
GAD2	Q05329	p.Ala530Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26300792C>T	NCI-TCGA
GAD2	Q05329	p.Ala530Pro	rs774998726	missense variant	-	NC_000010.11:g.26300791G>C	ExAC,gnomAD
GAD2	Q05329	p.Val532Leu	rs372117780	missense variant	-	NC_000010.11:g.26300797G>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Tyr540Cys	rs756985845	missense variant	-	NC_000010.11:g.26300822A>G	ExAC,gnomAD
GAD2	Q05329	p.Met544Ile	rs1165966398	missense variant	-	NC_000010.11:g.26300835G>T	TOPMed,gnomAD
GAD2	Q05329	p.Met544Leu	rs561824482	missense variant	-	NC_000010.11:g.26300833A>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Met544Ile	rs1165966398	missense variant	-	NC_000010.11:g.26300835G>A	TOPMed,gnomAD
GAD2	Q05329	p.Val545Ile	rs1263175014	missense variant	-	NC_000010.11:g.26300836G>A	TOPMed
GAD2	Q05329	p.Ser546Asn	COSM3436867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26300840G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Gln548Glu	rs750256807	missense variant	-	NC_000010.11:g.26300845C>G	TOPMed
GAD2	Q05329	p.Leu550Ser	rs1485293869	missense variant	-	NC_000010.11:g.26300852T>C	TOPMed
GAD2	Q05329	p.Gly551Arg	rs145658372	missense variant	-	NC_000010.11:g.26300854G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly551Arg	rs145658372	missense variant	-	NC_000010.11:g.26300854G>A	NCI-TCGA
GAD2	Q05329	p.Gly551Ter	rs145658372	stop gained	-	NC_000010.11:g.26300854G>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp552Gly	rs201538283	missense variant	-	NC_000010.11:g.26300858A>G	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Lys553Asn	rs1443166312	missense variant	-	NC_000010.11:g.26300862G>C	gnomAD
GAD2	Q05329	p.Asn555Ser	rs781288492	missense variant	-	NC_000010.11:g.26300867A>G	ExAC,gnomAD
GAD2	Q05329	p.Phe557Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26300872T>A	NCI-TCGA
GAD2	Q05329	p.Phe557Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26300872T>C	NCI-TCGA
GAD2	Q05329	p.Arg558His	rs748346267	missense variant	-	NC_000010.11:g.26300876G>A	NCI-TCGA,NCI-TCGA Cosmic
GAD2	Q05329	p.Arg558Cys	rs200401161	missense variant	-	NC_000010.11:g.26300875C>T	-
GAD2	Q05329	p.Arg558His	rs748346267	missense variant	-	NC_000010.11:g.26300876G>A	ExAC,gnomAD
GAD2	Q05329	p.Arg558Cys	rs200401161	missense variant	-	NC_000010.11:g.26300875C>T	NCI-TCGA
GAD2	Q05329	p.Met559Val	rs770007139	missense variant	-	NC_000010.11:g.26300878A>G	ExAC,gnomAD
GAD2	Q05329	p.Ile561Val	rs773335168	missense variant	-	NC_000010.11:g.26300884A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn563Asp	rs749596408	missense variant	-	NC_000010.11:g.26300890A>G	ExAC,gnomAD
GAD2	Q05329	p.Pro564Thr	rs1311625272	missense variant	-	NC_000010.11:g.26300893C>A	gnomAD
GAD2	Q05329	p.Pro564Leu	rs140328709	missense variant	-	NC_000010.11:g.26300894C>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr567Ala	rs1231976023	missense variant	-	NC_000010.11:g.26300902A>G	gnomAD
GAD2	Q05329	p.His568Tyr	rs1456686894	missense variant	-	NC_000010.11:g.26300905C>T	gnomAD
GAD2	Q05329	p.His568Asn	COSM6129418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26300905C>A	NCI-TCGA Cosmic
GAD2	Q05329	p.His568Gln	rs201622819	missense variant	-	NC_000010.11:g.26300907C>G	gnomAD
GAD2	Q05329	p.Gln569Ter	rs1386313996	stop gained	-	NC_000010.11:g.26300908C>T	gnomAD
GAD2	Q05329	p.Gln569Arg	rs1444558033	missense variant	-	NC_000010.11:g.26300909A>G	gnomAD
GAD2	Q05329	p.Asp570Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26300911G>T	NCI-TCGA
GAD2	Q05329	p.Ile571Thr	rs375149379	missense variant	-	NC_000010.11:g.26300915T>C	ESP,TOPMed
GAD2	Q05329	p.Phe573Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.26300922C>A	NCI-TCGA
GAD2	Q05329	p.Ile575Thr	rs145419731	missense variant	-	NC_000010.11:g.26300927T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Glu576Lys	rs1328392915	missense variant	-	NC_000010.11:g.26300929G>A	gnomAD
GAD2	Q05329	p.Glu576Lys	rs1328392915	missense variant	-	NC_000010.11:g.26300929G>A	NCI-TCGA
GAD2	Q05329	p.Ile578Thr	rs776234244	missense variant	-	NC_000010.11:g.26300936T>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile578Thr	rs776234244	missense variant	-	NC_000010.11:g.26300936T>C	NCI-TCGA
GAD2	Q05329	p.Glu579Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.26300938G>T	NCI-TCGA
GAD2	Q05329	p.Arg580Cys	rs564481006	missense variant	-	NC_000010.11:g.26300941C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg580His	rs1166999159	missense variant	-	NC_000010.11:g.26300942G>A	TOPMed
GAD2	Q05329	p.Arg580Cys	rs564481006	missense variant	-	NC_000010.11:g.26300941C>T	NCI-TCGA,NCI-TCGA Cosmic
GAD2	Q05329	p.Leu581Arg	rs1475511495	missense variant	-	NC_000010.11:g.26300945T>G	TOPMed
GAD2	Q05329	p.Gly582Glu	COSM3436869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26300948G>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Gly582AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.26300947G>-	NCI-TCGA
GAD2	Q05329	p.Gln583Lys	rs1243932259	missense variant	-	NC_000010.11:g.26300950C>A	NCI-TCGA
GAD2	Q05329	p.Gln583Lys	rs1243932259	missense variant	-	NC_000010.11:g.26300950C>A	gnomAD
GAD2	Q05329	p.Gln583Arg	rs1374348922	missense variant	-	NC_000010.11:g.26300951A>G	TOPMed
GAD2	Q05329	p.Asp584Val	rs1282403132	missense variant	-	NC_000010.11:g.26300954A>T	gnomAD
GAD2	Q05329	p.Leu585Ile	COSM3436870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.26300956T>A	NCI-TCGA Cosmic
GAD2	Q05329	p.Ter586Gln	rs760920201	stop lost	-	NC_000010.11:g.26300959T>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala2Thr	rs1460668960	missense variant	-	NC_000010.11:g.26216813G>A	gnomAD
GAD2	Q05329	p.Pro4Ala	rs1357128684	missense variant	-	NC_000010.11:g.26216819C>G	gnomAD
GAD2	Q05329	p.Pro4Leu	rs751813351	missense variant	-	NC_000010.11:g.26216820C>T	ExAC,gnomAD
GAD2	Q05329	p.Ser6Tyr	rs1334270030	missense variant	-	NC_000010.11:g.26216826C>A	gnomAD
GAD2	Q05329	p.Trp9Cys	rs201691653	missense variant	-	NC_000010.11:g.26216836G>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Gly12Arg	rs8190591	missense variant	-	NC_000010.11:g.26216843G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly12Arg	rs8190591	missense variant	-	NC_000010.11:g.26216843G>C	UniProt,dbSNP
GAD2	Q05329	p.Gly12Arg	VAR_018821	missense variant	-	NC_000010.11:g.26216843G>C	UniProt
GAD2	Q05329	p.Glu14Gln	rs779802271	missense variant	-	NC_000010.11:g.26216849G>C	ExAC,gnomAD
GAD2	Q05329	p.Asp15Asn	rs532313935	missense variant	-	NC_000010.11:g.26216852G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Gly16Val	rs768502950	missense variant	-	NC_000010.11:g.26216856G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly18Val	rs776361193	missense variant	-	NC_000010.11:g.26216862G>T	ExAC,gnomAD
GAD2	Q05329	p.Asp19Val	rs761800765	missense variant	-	NC_000010.11:g.26216865A>T	ExAC,gnomAD
GAD2	Q05329	p.Ser20Phe	rs769669694	missense variant	-	NC_000010.11:g.26216868C>T	ExAC,gnomAD
GAD2	Q05329	p.Glu21Lys	rs769872988	missense variant	-	NC_000010.11:g.26216870G>A	ExAC,gnomAD
GAD2	Q05329	p.Glu21Asp	rs148577863	missense variant	-	NC_000010.11:g.26216872G>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly24Ser	rs766470128	missense variant	-	NC_000010.11:g.26216879G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly24Arg	rs766470128	missense variant	-	NC_000010.11:g.26216879G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala26Val	rs990840170	missense variant	-	NC_000010.11:g.26217610C>T	TOPMed,gnomAD
GAD2	Q05329	p.Ala28Val	rs958697752	missense variant	-	NC_000010.11:g.26217616C>T	TOPMed,gnomAD
GAD2	Q05329	p.Cys30Ter	rs1158975599	stop gained	-	NC_000010.11:g.26217623C>A	gnomAD
GAD2	Q05329	p.Val32Ala	rs774469841	missense variant	-	NC_000010.11:g.26217628T>C	ExAC,gnomAD
GAD2	Q05329	p.Gln34Glu	rs992710798	missense variant	-	NC_000010.11:g.26217633C>G	TOPMed,gnomAD
GAD2	Q05329	p.Gln34His	rs767671941	missense variant	-	NC_000010.11:g.26217635G>C	ExAC,gnomAD
GAD2	Q05329	p.Lys35Arg	rs1321151133	missense variant	-	NC_000010.11:g.26217637A>G	gnomAD
GAD2	Q05329	p.Phe36Leu	rs775807612	missense variant	-	NC_000010.11:g.26217641C>G	ExAC,gnomAD
GAD2	Q05329	p.Thr37Met	rs1429001547	missense variant	-	NC_000010.11:g.26217643C>T	TOPMed
GAD2	Q05329	p.Gly38Ser	rs1279360536	missense variant	-	NC_000010.11:g.26217645G>A	TOPMed,gnomAD
GAD2	Q05329	p.Gly38Asp	rs1327631130	missense variant	-	NC_000010.11:g.26217646G>A	gnomAD
GAD2	Q05329	p.Gly41Arg	rs764530401	missense variant	-	NC_000010.11:g.26217654G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn42Ser	rs754328283	missense variant	-	NC_000010.11:g.26217658A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn42His	rs375835846	missense variant	-	NC_000010.11:g.26217657A>C	ESP,TOPMed,gnomAD
GAD2	Q05329	p.Asn42Thr	rs754328283	missense variant	-	NC_000010.11:g.26217658A>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn42Lys	rs369367874	missense variant	-	NC_000010.11:g.26217659C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Cys45Arg	rs1311212033	missense variant	-	NC_000010.11:g.26217666T>C	TOPMed
GAD2	Q05329	p.Cys45Phe	rs765976449	missense variant	-	NC_000010.11:g.26217667G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala46Val	rs750087314	missense variant	-	NC_000010.11:g.26217842C>T	TOPMed,gnomAD
GAD2	Q05329	p.Ala46Gly	rs750087314	missense variant	-	NC_000010.11:g.26217842C>G	TOPMed,gnomAD
GAD2	Q05329	p.Ala46Pro	rs754627728	missense variant	-	NC_000010.11:g.26217669G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala46Thr	rs754627728	missense variant	-	NC_000010.11:g.26217669G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Leu47Val	rs1298501963	missense variant	-	NC_000010.11:g.26217844C>G	TOPMed
GAD2	Q05329	p.Gly50Arg	rs374182148	missense variant	-	NC_000010.11:g.26217853G>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp51Gly	rs1169275792	missense variant	-	NC_000010.11:g.26217857A>G	gnomAD
GAD2	Q05329	p.Asp51Asn	rs762229020	missense variant	-	NC_000010.11:g.26217856G>A	ExAC,gnomAD
GAD2	Q05329	p.Ala52Pro	rs773798708	missense variant	-	NC_000010.11:g.26217859G>C	ExAC,gnomAD
GAD2	Q05329	p.Pro55Ala	rs752299714	missense variant	-	NC_000010.11:g.26217868C>G	ExAC,gnomAD
GAD2	Q05329	p.Pro55Leu	rs760213552	missense variant	-	NC_000010.11:g.26217869C>T	ExAC,gnomAD
GAD2	Q05329	p.Ala56Thr	rs1303039205	missense variant	-	NC_000010.11:g.26217871G>A	gnomAD
GAD2	Q05329	p.Ser58Thr	rs753506834	missense variant	-	NC_000010.11:g.26217878G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser58Arg	rs756985033	missense variant	-	NC_000010.11:g.26217879C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly59Cys	rs1207503880	missense variant	-	NC_000010.11:g.26217880G>T	TOPMed,gnomAD
GAD2	Q05329	p.Gly59Arg	rs1207503880	missense variant	-	NC_000010.11:g.26217880G>C	TOPMed,gnomAD
GAD2	Q05329	p.Gly60Trp	rs773194823	missense variant	-	NC_000010.11:g.26217883G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly60Arg	rs773194823	missense variant	-	NC_000010.11:g.26217883G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser61Gly	rs779979053	missense variant	-	NC_000010.11:g.26217886A>G	ExAC,gnomAD
GAD2	Q05329	p.Ser61Arg	rs567040121	missense variant	-	NC_000010.11:g.26217888C>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser61Arg	rs567040121	missense variant	-	NC_000010.11:g.26217888C>G	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro63His	rs781515916	missense variant	-	NC_000010.11:g.26217893C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro63Leu	rs781515916	missense variant	-	NC_000010.11:g.26217893C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro63Ser	rs768892863	missense variant	-	NC_000010.11:g.26217892C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro63Ala	rs768892863	missense variant	-	NC_000010.11:g.26217892C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro64Leu	rs770218244	missense variant	-	NC_000010.11:g.26217896C>T	ExAC,gnomAD
GAD2	Q05329	p.Pro64Thr	rs1313726527	missense variant	-	NC_000010.11:g.26217895C>A	gnomAD
GAD2	Q05329	p.Arg65Leu	rs532766939	missense variant	-	NC_000010.11:g.26217899G>T	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg65Pro	rs532766939	missense variant	-	NC_000010.11:g.26217899G>C	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg65Gln	rs532766939	missense variant	-	NC_000010.11:g.26217899G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg65Gly	rs1453690175	missense variant	-	NC_000010.11:g.26217898C>G	gnomAD
GAD2	Q05329	p.Ala68Ser	rs774750698	missense variant	-	NC_000010.11:g.26217907G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala68Val	rs1365808507	missense variant	-	NC_000010.11:g.26217908C>T	gnomAD
GAD2	Q05329	p.Ala68Thr	rs774750698	missense variant	-	NC_000010.11:g.26217907G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg69Gln	rs552818858	missense variant	-	NC_000010.11:g.26217911G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg69Trp	rs977758912	missense variant	-	NC_000010.11:g.26217910C>T	gnomAD
GAD2	Q05329	p.Lys70Met	rs1227718230	missense variant	-	NC_000010.11:g.26217914A>T	TOPMed,gnomAD
GAD2	Q05329	p.Ala72Val	rs373957704	missense variant	-	NC_000010.11:g.26217920C>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp76Glu	rs1203106878	missense variant	-	NC_000010.11:g.26217933C>A	gnomAD
GAD2	Q05329	p.Gln77Arg	rs571663605	missense variant	-	NC_000010.11:g.26217935A>G	gnomAD
GAD2	Q05329	p.Gln77His	rs1251690584	missense variant	-	NC_000010.11:g.26217936G>T	gnomAD
GAD2	Q05329	p.Pro79His	rs554706175	missense variant	-	NC_000010.11:g.26217941C>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Pro79Leu	rs554706175	missense variant	-	NC_000010.11:g.26217941C>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Cys82Phe	rs533984842	missense variant	-	NC_000010.11:g.26217950G>T	1000Genomes,TOPMed,gnomAD
GAD2	Q05329	p.Cys82Ser	rs533984842	missense variant	-	NC_000010.11:g.26217950G>C	1000Genomes,TOPMed,gnomAD
GAD2	Q05329	p.Cys82Arg	rs766303869	missense variant	-	NC_000010.11:g.26217949T>C	ExAC,gnomAD
GAD2	Q05329	p.Cys82Tyr	rs533984842	missense variant	-	NC_000010.11:g.26217950G>A	1000Genomes,TOPMed,gnomAD
GAD2	Q05329	p.Ser83Pro	rs1420713888	missense variant	-	NC_000010.11:g.26217952T>C	gnomAD
GAD2	Q05329	p.Val87Ile	rs1374161085	missense variant	-	NC_000010.11:g.26217964G>A	TOPMed
GAD2	Q05329	p.Asn88Lys	rs755051252	missense variant	-	NC_000010.11:g.26217969C>A	ExAC,gnomAD
GAD2	Q05329	p.Tyr89Cys	rs1195701712	missense variant	-	NC_000010.11:g.26217971A>G	TOPMed
GAD2	Q05329	p.Ala90Val	rs748378088	missense variant	-	NC_000010.11:g.26217974C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala90Thr	rs201987095	missense variant	-	NC_000010.11:g.26217973G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.His93Gln	rs1233309313	missense variant	-	NC_000010.11:g.26217984T>A	gnomAD
GAD2	Q05329	p.His93Pro	rs1357321101	missense variant	-	NC_000010.11:g.26217983A>C	TOPMed,gnomAD
GAD2	Q05329	p.His93Arg	rs1357321101	missense variant	-	NC_000010.11:g.26217983A>G	TOPMed,gnomAD
GAD2	Q05329	p.Ala94Gly	rs777967730	missense variant	-	NC_000010.11:g.26217986C>G	ExAC,gnomAD
GAD2	Q05329	p.Pro99Thr	rs1391525380	missense variant	-	NC_000010.11:g.26219051C>A	TOPMed,gnomAD
GAD2	Q05329	p.Ala100Thr	rs1414884545	missense variant	-	NC_000010.11:g.26219054G>A	TOPMed,gnomAD
GAD2	Q05329	p.Ala100Ser	rs1414884545	missense variant	-	NC_000010.11:g.26219054G>T	TOPMed,gnomAD
GAD2	Q05329	p.Cys101Arg	rs1175243832	missense variant	-	NC_000010.11:g.26219057T>C	gnomAD
GAD2	Q05329	p.Asp102Asn	rs139888003	missense variant	-	NC_000010.11:g.26219060G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg105Gly	rs770759157	missense variant	-	NC_000010.11:g.26219069A>G	ExAC,gnomAD
GAD2	Q05329	p.Arg105Ser	rs1432458479	missense variant	-	NC_000010.11:g.26219071G>C	gnomAD
GAD2	Q05329	p.Arg105Lys	rs1363939020	missense variant	-	NC_000010.11:g.26219070G>A	TOPMed,gnomAD
GAD2	Q05329	p.Arg105Ser	rs1432458479	missense variant	-	NC_000010.11:g.26219071G>T	gnomAD
GAD2	Q05329	p.Pro106Thr	rs774348551	missense variant	-	NC_000010.11:g.26219072C>A	ExAC,gnomAD
GAD2	Q05329	p.Leu108Val	rs759513504	missense variant	-	NC_000010.11:g.26219078T>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gln112Glu	rs767519463	missense variant	-	NC_000010.11:g.26219090C>G	ExAC,gnomAD
GAD2	Q05329	p.Asp113Glu	rs752701261	missense variant	-	NC_000010.11:g.26219095T>G	ExAC,gnomAD
GAD2	Q05329	p.Met115Val	rs1265720771	missense variant	-	NC_000010.11:g.26219099A>G	TOPMed
GAD2	Q05329	p.Met115Thr	rs577703778	missense variant	-	NC_000010.11:g.26219100T>C	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Asn116Tyr	rs144305290	missense variant	-	NC_000010.11:g.26219102A>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile117Val	rs1314652429	missense variant	-	NC_000010.11:g.26219105A>G	TOPMed
GAD2	Q05329	p.Val122Ala	rs375194565	missense variant	-	NC_000010.11:g.26219121T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val122Met	rs1228879530	missense variant	-	NC_000010.11:g.26219120G>A	TOPMed
GAD2	Q05329	p.Val123Met	rs369441795	missense variant	-	NC_000010.11:g.26219123G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val123Leu	rs369441795	missense variant	-	NC_000010.11:g.26219123G>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Lys124Asn	rs8190600	missense variant	-	NC_000010.11:g.26219128A>C	UniProt,dbSNP
GAD2	Q05329	p.Lys124Asn	VAR_018822	missense variant	-	NC_000010.11:g.26219128A>C	UniProt
GAD2	Q05329	p.Lys124Asn	rs8190600	missense variant	-	NC_000010.11:g.26219128A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Lys124Thr	rs1391709227	missense variant	-	NC_000010.11:g.26219127A>C	TOPMed
GAD2	Q05329	p.Phe126Leu	rs376925031	missense variant	-	NC_000010.11:g.26219132T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp127His	rs747528687	missense variant	-	NC_000010.11:g.26219135G>C	ExAC,gnomAD
GAD2	Q05329	p.Asp127Asn	rs747528687	missense variant	-	NC_000010.11:g.26219135G>A	ExAC,gnomAD
GAD2	Q05329	p.Asp127Gly	rs769286336	missense variant	-	NC_000010.11:g.26219136A>G	ExAC,gnomAD
GAD2	Q05329	p.Ser129Leu	rs562894920	missense variant	-	NC_000010.11:g.26219142C>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Val132Met	rs748959145	missense variant	-	NC_000010.11:g.26219150G>A	ExAC,gnomAD
GAD2	Q05329	p.Val132Leu	rs748959145	missense variant	-	NC_000010.11:g.26219150G>T	ExAC,gnomAD
GAD2	Q05329	p.Ile133Thr	rs774176087	missense variant	-	NC_000010.11:g.26219154T>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp134Gly	rs1236664453	missense variant	-	NC_000010.11:g.26219157A>G	TOPMed,gnomAD
GAD2	Q05329	p.Asn139Lys	rs759352300	missense variant	-	NC_000010.11:g.26219173T>A	ExAC,gnomAD
GAD2	Q05329	p.Asn139His	rs1198578113	missense variant	-	NC_000010.11:g.26219171A>C	TOPMed
GAD2	Q05329	p.Leu142Phe	rs1224821241	missense variant	-	NC_000010.11:g.26219180C>T	gnomAD
GAD2	Q05329	p.Gln143Arg	rs1268113047	missense variant	-	NC_000010.11:g.26219184A>G	gnomAD
GAD2	Q05329	p.Glu144Ala	rs1215678092	missense variant	-	NC_000010.11:g.26219187A>C	gnomAD
GAD2	Q05329	p.Glu144Ter	rs772002515	stop gained	-	NC_000010.11:g.26219186G>T	ExAC,gnomAD
GAD2	Q05329	p.Tyr145Asn	rs1434166489	missense variant	-	NC_000010.11:g.26219189T>A	TOPMed
GAD2	Q05329	p.Trp147Cys	rs147809083	missense variant	-	NC_000010.11:g.26219197G>C	ESP,ExAC,gnomAD
GAD2	Q05329	p.Glu148Asp	rs1267570341	missense variant	-	NC_000010.11:g.26219200A>C	TOPMed
GAD2	Q05329	p.Ala150Thr	rs1451275808	missense variant	-	NC_000010.11:g.26219204G>A	gnomAD
GAD2	Q05329	p.Pro153Leu	rs2839672	missense variant	-	NC_000010.11:g.26219214C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro153Gln	rs2839672	missense variant	-	NC_000010.11:g.26219214C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gln154Lys	rs764219976	missense variant	-	NC_000010.11:g.26219216C>A	ExAC,gnomAD
GAD2	Q05329	p.Glu157Lys	rs1411219792	missense variant	-	NC_000010.11:g.26219225G>A	gnomAD
GAD2	Q05329	p.Glu157Gly	rs753912290	missense variant	-	NC_000010.11:g.26219226A>G	ExAC,gnomAD
GAD2	Q05329	p.Glu158Gly	rs765338722	missense variant	-	NC_000010.11:g.26219229A>G	ExAC,gnomAD
GAD2	Q05329	p.Met161Lys	rs750667725	missense variant	-	NC_000010.11:g.26219238T>A	ExAC,gnomAD
GAD2	Q05329	p.His162Leu	rs1321248789	missense variant	-	NC_000010.11:g.26219241A>T	gnomAD
GAD2	Q05329	p.Gln164Glu	rs758705662	missense variant	-	NC_000010.11:g.26219246C>G	ExAC,gnomAD
GAD2	Q05329	p.Ala170Glu	rs182248090	missense variant	-	NC_000010.11:g.26219265C>A	1000Genomes
GAD2	Q05329	p.Ala170Thr	rs1266874480	missense variant	-	NC_000010.11:g.26219264G>A	TOPMed
GAD2	Q05329	p.Ile171Val	rs1284870040	missense variant	-	NC_000010.11:g.26219267A>G	gnomAD
GAD2	Q05329	p.Gly174Glu	rs984510156	missense variant	-	NC_000010.11:g.26223887G>A	TOPMed
GAD2	Q05329	p.Arg177Gly	rs1173651278	missense variant	-	NC_000010.11:g.26223895A>G	gnomAD
GAD2	Q05329	p.Tyr178His	rs1296507492	missense variant	-	NC_000010.11:g.26223898T>C	TOPMed
GAD2	Q05329	p.Phe179Leu	rs745501249	missense variant	-	NC_000010.11:g.26223901T>C	ExAC,gnomAD
GAD2	Q05329	p.Asn180Ser	rs568262065	missense variant	-	NC_000010.11:g.26223905A>G	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Thr184Ala	rs1366113164	missense variant	-	NC_000010.11:g.26223916A>G	gnomAD
GAD2	Q05329	p.Leu186Phe	rs746740047	missense variant	-	NC_000010.11:g.26223924G>C	ExAC,gnomAD
GAD2	Q05329	p.Met188Thr	rs776375840	missense variant	-	NC_000010.11:g.26223929T>C	ExAC,gnomAD
GAD2	Q05329	p.Met188Val	rs533729819	missense variant	-	NC_000010.11:g.26223928A>G	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Val189Ala	rs375300049	missense variant	-	NC_000010.11:g.26223932T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val189Leu	rs748122759	missense variant	-	NC_000010.11:g.26223931G>C	ExAC,gnomAD
GAD2	Q05329	p.Ala192Thr	rs1198171592	missense variant	-	NC_000010.11:g.26223940G>A	TOPMed,gnomAD
GAD2	Q05329	p.Trp195Cys	rs1467175955	missense variant	-	NC_000010.11:g.26223951G>T	gnomAD
GAD2	Q05329	p.Thr197Pro	rs763143772	missense variant	-	NC_000010.11:g.26223955A>C	ExAC,gnomAD
GAD2	Q05329	p.Thr199Ile	rs774652278	missense variant	-	NC_000010.11:g.26223962C>T	ExAC,gnomAD
GAD2	Q05329	p.Thr202Ala	rs759757632	missense variant	-	NC_000010.11:g.26223970A>G	ExAC,gnomAD
GAD2	Q05329	p.Met204Leu	rs553646520	missense variant	-	NC_000010.11:g.26223976A>T	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met204Leu	rs553646520	missense variant	-	NC_000010.11:g.26223976A>C	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met204Val	rs553646520	missense variant	-	NC_000010.11:g.26223976A>G	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met204Ile	rs61735922	missense variant	-	NC_000010.11:g.26224539G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Tyr207Cys	rs771522366	missense variant	-	NC_000010.11:g.26224547A>G	TOPMed,gnomAD
GAD2	Q05329	p.Tyr207Phe	rs771522366	missense variant	-	NC_000010.11:g.26224547A>T	TOPMed,gnomAD
GAD2	Q05329	p.Leu215Phe	rs1203283639	missense variant	-	NC_000010.11:g.26224570C>T	TOPMed,gnomAD
GAD2	Q05329	p.Leu216Ser	rs772307886	missense variant	-	NC_000010.11:g.26224574T>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val219Asp	rs77034511	missense variant	-	NC_000010.11:g.26224583T>A	1000Genomes,ExAC
GAD2	Q05329	p.Glu226Lys	rs761233439	missense variant	-	NC_000010.11:g.26224603G>A	ExAC,gnomAD
GAD2	Q05329	p.Glu226Ter	rs761233439	stop gained	-	NC_000010.11:g.26224603G>T	ExAC,gnomAD
GAD2	Q05329	p.Ile227Val	rs1199121907	missense variant	-	NC_000010.11:g.26224606A>G	gnomAD
GAD2	Q05329	p.Ile228Val	rs762496645	missense variant	-	NC_000010.11:g.26224609A>G	ExAC,gnomAD
GAD2	Q05329	p.Ile228Thr	rs143186590	missense variant	-	NC_000010.11:g.26224610T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly229Arg	rs1276993275	missense variant	-	NC_000010.11:g.26224612G>C	TOPMed
GAD2	Q05329	p.Gly232Glu	rs2839673	missense variant	-	NC_000010.11:g.26224622G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly233Cys	rs780831426	missense variant	-	NC_000010.11:g.26224624G>T	ExAC,gnomAD
GAD2	Q05329	p.Gly233Val	rs540733500	missense variant	-	NC_000010.11:g.26224625G>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Gly233Asp	rs540733500	missense variant	-	NC_000010.11:g.26224625G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Asp236Asn	rs779103489	missense variant	-	NC_000010.11:g.26224633G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp236Gly	rs746055295	missense variant	-	NC_000010.11:g.26224634A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile238Thr	rs950190434	missense variant	-	NC_000010.11:g.26224640T>C	TOPMed
GAD2	Q05329	p.Gly242Ser	rs1366988930	missense variant	-	NC_000010.11:g.26224651G>A	gnomAD
GAD2	Q05329	p.Gly242Asp	rs1376448340	missense variant	-	NC_000010.11:g.26229662G>A	gnomAD
GAD2	Q05329	p.Ala244Thr	rs372039859	missense variant	-	NC_000010.11:g.26229667G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala244Ser	rs372039859	missense variant	-	NC_000010.11:g.26229667G>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile245Val	rs1281281237	missense variant	-	NC_000010.11:g.26229670A>G	TOPMed,gnomAD
GAD2	Q05329	p.Met251Ile	rs1209422137	missense variant	-	NC_000010.11:g.26229690G>C	gnomAD
GAD2	Q05329	p.Met251Val	rs201461179	missense variant	-	NC_000010.11:g.26229688A>G	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala254Thr	rs758427958	missense variant	-	NC_000010.11:g.26229697G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala254Ser	rs758427958	missense variant	-	NC_000010.11:g.26229697G>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg255Ser	rs747241251	missense variant	-	NC_000010.11:g.26229700C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg255Cys	rs747241251	missense variant	-	NC_000010.11:g.26229700C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Lys257Glu	rs1448598250	missense variant	-	NC_000010.11:g.26229706A>G	gnomAD
GAD2	Q05329	p.Met258Val	rs1189585091	missense variant	-	NC_000010.11:g.26229709A>G	TOPMed
GAD2	Q05329	p.Met258Ile	rs981208590	missense variant	-	NC_000010.11:g.26229711G>A	TOPMed
GAD2	Q05329	p.Glu264Lys	rs1414985700	missense variant	-	NC_000010.11:g.26229727G>A	gnomAD
GAD2	Q05329	p.Glu264Val	rs748643830	missense variant	-	NC_000010.11:g.26229728A>T	ExAC,gnomAD
GAD2	Q05329	p.Lys265Glu	rs770376976	missense variant	-	NC_000010.11:g.26229730A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala269Thr	rs52834041	missense variant	-	NC_000010.11:g.26229742G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg272Trp	rs150392847	missense variant	-	NC_000010.11:g.26229751A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg272Ser	rs1055520852	missense variant	-	NC_000010.11:g.26229753G>C	TOPMed,gnomAD
GAD2	Q05329	p.Arg272Gly	rs150392847	missense variant	-	NC_000010.11:g.26229751A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile274Val	rs1308072499	missense variant	-	NC_000010.11:g.26229757A>G	TOPMed
GAD2	Q05329	p.Thr277Met	rs753672041	missense variant	-	NC_000010.11:g.26229767C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser281Thr	rs1244885241	missense variant	-	NC_000010.11:g.26245922G>C	TOPMed,gnomAD
GAD2	Q05329	p.Ser284Cys	rs1295046935	missense variant	-	NC_000010.11:g.26245931C>G	TOPMed
GAD2	Q05329	p.Lys287Thr	rs746471874	missense variant	-	NC_000010.11:g.26245940A>C	ExAC,gnomAD
GAD2	Q05329	p.Gly288Ala	rs768167687	missense variant	-	NC_000010.11:g.26245943G>C	ExAC,gnomAD
GAD2	Q05329	p.Ala291Thr	rs776279642	missense variant	-	NC_000010.11:g.26245951G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile294Phe	rs1360083988	missense variant	-	NC_000010.11:g.26245960A>T	TOPMed
GAD2	Q05329	p.Ile294Thr	rs138151086	missense variant	-	NC_000010.11:g.26245961T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr296Ile	rs769617908	missense variant	-	NC_000010.11:g.26245967C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr296Arg	rs769617908	missense variant	-	NC_000010.11:g.26245967C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr296Ala	rs1421524768	missense variant	-	NC_000010.11:g.26245966A>G	TOPMed
GAD2	Q05329	p.Thr296Lys	rs769617908	missense variant	-	NC_000010.11:g.26245967C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser298Asn	rs772931919	missense variant	-	NC_000010.11:g.26245973G>A	ExAC,gnomAD
GAD2	Q05329	p.Ser298Gly	rs1189058925	missense variant	-	NC_000010.11:g.26245972A>G	gnomAD
GAD2	Q05329	p.Val299Met	rs1161349496	missense variant	-	NC_000010.11:g.26245975G>A	gnomAD
GAD2	Q05329	p.Lys303Asn	rs1269966305	missense variant	-	NC_000010.11:g.26245989A>C	TOPMed
GAD2	Q05329	p.Cys304Arg	rs766382843	missense variant	-	NC_000010.11:g.26245990T>C	ExAC,gnomAD
GAD2	Q05329	p.Asp305Asn	rs1430846922	missense variant	-	NC_000010.11:g.26245993G>A	gnomAD
GAD2	Q05329	p.Met310Ile	rs1294603687	missense variant	-	NC_000010.11:g.26269128G>A	gnomAD
GAD2	Q05329	p.Ile311Asn	rs1362262248	missense variant	-	NC_000010.11:g.26269130T>A	TOPMed
GAD2	Q05329	p.Ser313Phe	rs144416490	missense variant	-	NC_000010.11:g.26269136C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp314His	rs754102539	missense variant	-	NC_000010.11:g.26269138G>C	ExAC,gnomAD
GAD2	Q05329	p.Asp314Asn	rs754102539	missense variant	-	NC_000010.11:g.26269138G>A	ExAC,gnomAD
GAD2	Q05329	p.Glu321Gln	rs184183531	missense variant	-	NC_000010.11:g.26269159G>C	1000Genomes,ExAC,TOPMed
GAD2	Q05329	p.Lys325Arg	rs1269582963	missense variant	-	NC_000010.11:g.26269172A>G	gnomAD
GAD2	Q05329	p.Phe327Leu	rs758795744	missense variant	-	NC_000010.11:g.26270645T>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val328Ala	rs766748892	missense variant	-	NC_000010.11:g.26270647T>C	ExAC,gnomAD
GAD2	Q05329	p.Pro329Ser	rs1258625807	missense variant	-	NC_000010.11:g.26270649C>T	gnomAD
GAD2	Q05329	p.Pro329Leu	rs1489656438	missense variant	-	NC_000010.11:g.26270650C>T	gnomAD
GAD2	Q05329	p.Val332Met	rs182756899	missense variant	-	NC_000010.11:g.26270658G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Val340Met	rs757006706	missense variant	-	NC_000010.11:g.26270682G>A	ExAC,gnomAD
GAD2	Q05329	p.Ala343Thr	rs1157168097	missense variant	-	NC_000010.11:g.26270691G>A	gnomAD
GAD2	Q05329	p.Phe344Leu	rs745607268	missense variant	-	NC_000010.11:g.26270694T>C	ExAC,gnomAD
GAD2	Q05329	p.Pro346Arg	rs775222691	missense variant	-	NC_000010.11:g.26270701C>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro346Leu	rs775222691	missense variant	-	NC_000010.11:g.26270701C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Pro346Ser	rs147373152	missense variant	-	NC_000010.11:g.26270700C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Leu347Val	rs747034092	missense variant	-	NC_000010.11:g.26270703C>G	ExAC,gnomAD
GAD2	Q05329	p.Ala351Thr	rs768604380	missense variant	-	NC_000010.11:g.26270715G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Lys355Arg	rs1238881524	missense variant	-	NC_000010.11:g.26270728A>G	TOPMed,gnomAD
GAD2	Q05329	p.Tyr357Cys	rs761992421	missense variant	-	NC_000010.11:g.26270734A>G	ExAC,gnomAD
GAD2	Q05329	p.Tyr357His	rs1350529387	missense variant	-	NC_000010.11:g.26270733T>C	TOPMed,gnomAD
GAD2	Q05329	p.Lys358Glu	rs1232927880	missense variant	-	NC_000010.11:g.26270736A>G	gnomAD
GAD2	Q05329	p.Gly369Arg	rs1289575575	missense variant	-	NC_000010.11:g.26273648G>A	gnomAD
GAD2	Q05329	p.Leu371Phe	rs1045840765	missense variant	-	NC_000010.11:g.26273656A>C	TOPMed,gnomAD
GAD2	Q05329	p.Met373Thr	rs781051495	missense variant	-	NC_000010.11:g.26273661T>C	ExAC,gnomAD
GAD2	Q05329	p.Met373Ile	rs748084780	missense variant	-	NC_000010.11:g.26273662G>A	ExAC,gnomAD
GAD2	Q05329	p.Arg375Gln	rs8190730	missense variant	-	NC_000010.11:g.26273667G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg375Gln	rs8190730	missense variant	-	NC_000010.11:g.26273667G>A	UniProt,dbSNP
GAD2	Q05329	p.Arg375Gln	VAR_018824	missense variant	-	NC_000010.11:g.26273667G>A	UniProt
GAD2	Q05329	p.Arg375Leu	rs8190730	missense variant	-	NC_000010.11:g.26273667G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg375Ter	rs897876627	stop gained	-	NC_000010.11:g.26273666C>T	TOPMed,gnomAD
GAD2	Q05329	p.Ser382Ile	rs189305962	missense variant	-	NC_000010.11:g.26273688G>T	1000Genomes,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser382Arg	rs1204006170	missense variant	-	NC_000010.11:g.26273689T>A	gnomAD
GAD2	Q05329	p.Gly383Asp	rs774455272	missense variant	-	NC_000010.11:g.26273691G>A	ExAC,gnomAD
GAD2	Q05329	p.Val384Met	rs772567180	missense variant	-	NC_000010.11:g.26273693G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Glu385Asp	rs1209663550	missense variant	-	NC_000010.11:g.26273698G>T	gnomAD
GAD2	Q05329	p.Arg386Gly	rs776135250	missense variant	-	NC_000010.11:g.26273699A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr391Met	rs1406817819	missense variant	-	NC_000010.11:g.26281023C>T	TOPMed,gnomAD
GAD2	Q05329	p.Pro394Leu	rs758930871	missense variant	-	NC_000010.11:g.26281032C>T	ExAC,gnomAD
GAD2	Q05329	p.Met397Ile	rs1366667416	missense variant	-	NC_000010.11:g.26281042G>A	gnomAD
GAD2	Q05329	p.Met397Ile	rs1366667416	missense variant	-	NC_000010.11:g.26281042G>T	gnomAD
GAD2	Q05329	p.Met398Ile	rs1239661345	missense variant	-	NC_000010.11:g.26281045G>A	TOPMed
GAD2	Q05329	p.Gly399Ala	rs1404877595	missense variant	-	NC_000010.11:g.26281047G>C	gnomAD
GAD2	Q05329	p.Cys404Ser	rs777027610	missense variant	-	NC_000010.11:g.26281061T>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ala406Val	rs762468774	missense variant	-	NC_000010.11:g.26281068C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg410Gly	rs774051902	missense variant	-	NC_000010.11:g.26281079A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg410Ile	rs759246972	missense variant	-	NC_000010.11:g.26281080G>T	ExAC,gnomAD
GAD2	Q05329	p.Arg410Thr	rs759246972	missense variant	-	NC_000010.11:g.26281080G>C	ExAC,gnomAD
GAD2	Q05329	p.Glu411Val	rs767281811	missense variant	-	NC_000010.11:g.26281083A>T	ExAC,gnomAD
GAD2	Q05329	p.Gly413Ala	rs780366876	missense variant	-	NC_000010.11:g.26286346G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly413Arg	rs185111133	missense variant	-	NC_000010.11:g.26286345G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn419Ser	rs1405661290	missense variant	-	NC_000010.11:g.26286364A>G	gnomAD
GAD2	Q05329	p.Gln420His	rs1266397210	missense variant	-	NC_000010.11:g.26286368A>T	gnomAD
GAD2	Q05329	p.Gln420Lys	rs778287000	missense variant	-	NC_000010.11:g.26286366C>A	ExAC,gnomAD
GAD2	Q05329	p.His422Tyr	rs745321095	missense variant	-	NC_000010.11:g.26286372C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gln429Pro	rs771571634	missense variant	-	NC_000010.11:g.26286394A>C	ExAC,gnomAD
GAD2	Q05329	p.Tyr437Cys	rs775115743	missense variant	-	NC_000010.11:g.26286418A>G	ExAC,gnomAD
GAD2	Q05329	p.Cys446Ter	rs760375732	stop gained	-	NC_000010.11:g.26286446C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly447Arg	rs376780859	missense variant	-	NC_000010.11:g.26286447G>A	ESP,ExAC,gnomAD
GAD2	Q05329	p.Arg448Cys	rs1263303585	missense variant	-	NC_000010.11:g.26286450C>T	gnomAD
GAD2	Q05329	p.Val450Ile	rs369617935	missense variant	-	NC_000010.11:g.26286456G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp451Gly	rs1388620304	missense variant	-	NC_000010.11:g.26286460A>G	gnomAD
GAD2	Q05329	p.Phe453Tyr	rs765035926	missense variant	-	NC_000010.11:g.26286466T>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr464Ile	rs1402582913	missense variant	-	NC_000010.11:g.26292469C>T	gnomAD
GAD2	Q05329	p.Thr465Ser	rs764513059	missense variant	-	NC_000010.11:g.26292472C>G	ExAC,gnomAD
GAD2	Q05329	p.Thr465Pro	rs1054381746	missense variant	-	NC_000010.11:g.26292471A>C	TOPMed
GAD2	Q05329	p.Ala469Val	rs1259318388	missense variant	-	NC_000010.11:g.26292484C>T	TOPMed,gnomAD
GAD2	Q05329	p.His470Arg	rs779421004	missense variant	-	NC_000010.11:g.26292487A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp472Gly	rs1291721733	missense variant	-	NC_000010.11:g.26292493A>G	gnomAD
GAD2	Q05329	p.Cys474Arg	rs746462360	missense variant	-	NC_000010.11:g.26292498T>C	ExAC,gnomAD
GAD2	Q05329	p.Leu477Val	rs1418711112	missense variant	-	NC_000010.11:g.26292507T>G	gnomAD
GAD2	Q05329	p.Ala478Thr	rs1050757379	missense variant	-	NC_000010.11:g.26292510G>A	-
GAD2	Q05329	p.Glu479Lys	rs1180017852	missense variant	-	NC_000010.11:g.26292513G>A	gnomAD
GAD2	Q05329	p.Leu481Val	rs1187075586	missense variant	-	NC_000010.11:g.26292519T>G	TOPMed
GAD2	Q05329	p.Tyr482Cys	rs761350624	missense variant	-	NC_000010.11:g.26292523A>G	TOPMed,gnomAD
GAD2	Q05329	p.Ile484Asn	rs780651528	missense variant	-	NC_000010.11:g.26292529T>A	ExAC,gnomAD
GAD2	Q05329	p.Arg488Ter	rs184027366	stop gained	-	NC_000010.11:g.26292540C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly490Arg	rs1485837054	missense variant	-	NC_000010.11:g.26292546G>A	TOPMed
GAD2	Q05329	p.Gly490Val	rs993166149	missense variant	-	NC_000010.11:g.26292547G>T	TOPMed
GAD2	Q05329	p.Met493Ile	rs1364914782	missense variant	-	NC_000010.11:g.26292557G>A	gnomAD
GAD2	Q05329	p.Phe495Cys	rs1307034080	missense variant	-	NC_000010.11:g.26292562T>G	TOPMed
GAD2	Q05329	p.Asp496Val	rs375743827	missense variant	-	NC_000010.11:g.26292565A>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gln500Pro	rs1381133992	missense variant	-	NC_000010.11:g.26292906A>C	gnomAD
GAD2	Q05329	p.Gln500Arg	rs1381133992	missense variant	-	NC_000010.11:g.26292906A>G	gnomAD
GAD2	Q05329	p.Thr502Ser	rs1317838900	missense variant	-	NC_000010.11:g.26292911A>T	TOPMed
GAD2	Q05329	p.Val504Ala	rs751886371	missense variant	-	NC_000010.11:g.26292918T>C	TOPMed,gnomAD
GAD2	Q05329	p.Cys505Arg	rs1461947257	missense variant	-	NC_000010.11:g.26292920T>C	gnomAD
GAD2	Q05329	p.Phe506Ser	rs1014503957	missense variant	-	NC_000010.11:g.26292924T>C	gnomAD
GAD2	Q05329	p.Phe506Cys	rs1014503957	missense variant	-	NC_000010.11:g.26292924T>G	gnomAD
GAD2	Q05329	p.Trp507Arg	rs150583361	missense variant	-	NC_000010.11:g.26292926T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ile509Leu	rs1482175569	missense variant	-	NC_000010.11:g.26292932A>C	TOPMed,gnomAD
GAD2	Q05329	p.Ile509Val	rs1482175569	missense variant	-	NC_000010.11:g.26292932A>G	TOPMed,gnomAD
GAD2	Q05329	p.Ile509Thr	rs1452860008	missense variant	-	NC_000010.11:g.26292933T>C	TOPMed
GAD2	Q05329	p.Leu513Trp	rs1262383631	missense variant	-	NC_000010.11:g.26292945T>G	gnomAD
GAD2	Q05329	p.Arg514Pro	rs777588143	missense variant	-	NC_000010.11:g.26292948G>C	ExAC,gnomAD
GAD2	Q05329	p.Arg514His	rs777588143	missense variant	-	NC_000010.11:g.26292948G>A	ExAC,gnomAD
GAD2	Q05329	p.Arg514Leu	rs777588143	missense variant	-	NC_000010.11:g.26292948G>T	ExAC,gnomAD
GAD2	Q05329	p.Asp518Glu	rs967504625	missense variant	-	NC_000010.11:g.26292961C>A	TOPMed
GAD2	Q05329	p.Glu521Lys	rs531350793	missense variant	-	NC_000010.11:g.26292968G>A	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Glu521Gly	rs745888753	missense variant	-	NC_000010.11:g.26292969A>G	ExAC,gnomAD
GAD2	Q05329	p.Arg522Lys	rs377565192	missense variant	-	NC_000010.11:g.26292972G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met523Thr	rs775690793	missense variant	-	NC_000010.11:g.26292975T>C	ExAC,gnomAD
GAD2	Q05329	p.Met523Ile	rs760768178	missense variant	-	NC_000010.11:g.26292976G>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Met523Ile	rs760768178	missense variant	-	NC_000010.11:g.26292976G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Ser524Asn	rs534607306	missense variant	-	NC_000010.11:g.26292978G>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg525Cys	rs762107590	missense variant	-	NC_000010.11:g.26292980C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg525Ser	rs762107590	missense variant	-	NC_000010.11:g.26292980C>A	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg525His	rs1223100093	missense variant	-	NC_000010.11:g.26292981G>A	gnomAD
GAD2	Q05329	p.Ser527Leu	rs149742560	missense variant	-	NC_000010.11:g.26292987C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Val529Met	rs766866002	missense variant	-	NC_000010.11:g.26300788G>A	ExAC,gnomAD
GAD2	Q05329	p.Ala530Pro	rs774998726	missense variant	-	NC_000010.11:g.26300791G>C	ExAC,gnomAD
GAD2	Q05329	p.Val532Leu	rs372117780	missense variant	-	NC_000010.11:g.26300797G>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Tyr540Cys	rs756985845	missense variant	-	NC_000010.11:g.26300822A>G	ExAC,gnomAD
GAD2	Q05329	p.Met544Ile	rs1165966398	missense variant	-	NC_000010.11:g.26300835G>T	TOPMed,gnomAD
GAD2	Q05329	p.Met544Leu	rs561824482	missense variant	-	NC_000010.11:g.26300833A>T	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Met544Ile	rs1165966398	missense variant	-	NC_000010.11:g.26300835G>A	TOPMed,gnomAD
GAD2	Q05329	p.Val545Ile	rs1263175014	missense variant	-	NC_000010.11:g.26300836G>A	TOPMed
GAD2	Q05329	p.Gln548Glu	rs750256807	missense variant	-	NC_000010.11:g.26300845C>G	TOPMed
GAD2	Q05329	p.Leu550Ser	rs1485293869	missense variant	-	NC_000010.11:g.26300852T>C	TOPMed
GAD2	Q05329	p.Gly551Ter	rs145658372	stop gained	-	NC_000010.11:g.26300854G>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Gly551Arg	rs145658372	missense variant	-	NC_000010.11:g.26300854G>A	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asp552Gly	rs201538283	missense variant	-	NC_000010.11:g.26300858A>G	1000Genomes,ExAC,gnomAD
GAD2	Q05329	p.Lys553Asn	rs1443166312	missense variant	-	NC_000010.11:g.26300862G>C	gnomAD
GAD2	Q05329	p.Asn555Ser	rs781288492	missense variant	-	NC_000010.11:g.26300867A>G	ExAC,gnomAD
GAD2	Q05329	p.Arg558Cys	rs200401161	missense variant	-	NC_000010.11:g.26300875C>T	-
GAD2	Q05329	p.Arg558His	rs748346267	missense variant	-	NC_000010.11:g.26300876G>A	ExAC,gnomAD
GAD2	Q05329	p.Met559Val	rs770007139	missense variant	-	NC_000010.11:g.26300878A>G	ExAC,gnomAD
GAD2	Q05329	p.Ile561Val	rs773335168	missense variant	-	NC_000010.11:g.26300884A>G	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Asn563Asp	rs749596408	missense variant	-	NC_000010.11:g.26300890A>G	ExAC,gnomAD
GAD2	Q05329	p.Pro564Thr	rs1311625272	missense variant	-	NC_000010.11:g.26300893C>A	gnomAD
GAD2	Q05329	p.Pro564Leu	rs140328709	missense variant	-	NC_000010.11:g.26300894C>T	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Thr567Ala	rs1231976023	missense variant	-	NC_000010.11:g.26300902A>G	gnomAD
GAD2	Q05329	p.His568Tyr	rs1456686894	missense variant	-	NC_000010.11:g.26300905C>T	gnomAD
GAD2	Q05329	p.His568Gln	rs201622819	missense variant	-	NC_000010.11:g.26300907C>G	gnomAD
GAD2	Q05329	p.Gln569Ter	rs1386313996	stop gained	-	NC_000010.11:g.26300908C>T	gnomAD
GAD2	Q05329	p.Gln569Arg	rs1444558033	missense variant	-	NC_000010.11:g.26300909A>G	gnomAD
GAD2	Q05329	p.Ile571Thr	rs375149379	missense variant	-	NC_000010.11:g.26300915T>C	ESP,TOPMed
GAD2	Q05329	p.Ile575Thr	rs145419731	missense variant	-	NC_000010.11:g.26300927T>C	ESP,ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Glu576Lys	rs1328392915	missense variant	-	NC_000010.11:g.26300929G>A	gnomAD
GAD2	Q05329	p.Ile578Thr	rs776234244	missense variant	-	NC_000010.11:g.26300936T>C	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Arg580His	rs1166999159	missense variant	-	NC_000010.11:g.26300942G>A	TOPMed
GAD2	Q05329	p.Arg580Cys	rs564481006	missense variant	-	NC_000010.11:g.26300941C>T	ExAC,TOPMed,gnomAD
GAD2	Q05329	p.Leu581Arg	rs1475511495	missense variant	-	NC_000010.11:g.26300945T>G	TOPMed
GAD2	Q05329	p.Gln583Arg	rs1374348922	missense variant	-	NC_000010.11:g.26300951A>G	TOPMed
GAD2	Q05329	p.Gln583Lys	rs1243932259	missense variant	-	NC_000010.11:g.26300950C>A	gnomAD
GAD2	Q05329	p.Asp584Val	rs1282403132	missense variant	-	NC_000010.11:g.26300954A>T	gnomAD
GAD2	Q05329	p.Ter586Gln	rs760920201	stop lost	-	NC_000010.11:g.26300959T>C	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Thr2Ile	rs267606990	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112419116C>T	-
PTPN11	Q06124	p.Thr2Ile	rs267606990	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112419116C>T	UniProt,dbSNP
PTPN11	Q06124	p.Thr2Ile	VAR_027183	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112419116C>T	UniProt
PTPN11	Q06124	p.Thr2Ile	RCV000211847	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112419116C>T	ClinVar
PTPN11	Q06124	p.Thr2Ile	RCV000033445	missense variant	-	NC_000012.12:g.112419116C>T	ClinVar
PTPN11	Q06124	p.Thr2Ile	RCV000694389	missense variant	Rasopathy	NC_000012.12:g.112419116C>T	ClinVar
PTPN11	Q06124	p.Thr2Ile	RCV000014277	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112419116C>T	ClinVar
PTPN11	Q06124	p.Arg4Gly	rs886041517	missense variant	-	NC_000012.12:g.112419121C>G	-
PTPN11	Q06124	p.Arg4Gly	RCV000353023	missense variant	-	NC_000012.12:g.112419121C>G	ClinVar
PTPN11	Q06124	p.Pro9Ala	rs566068139	missense variant	-	NC_000012.12:g.112446286C>G	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Pro9Arg	rs536503257	missense variant	-	NC_000012.12:g.112446287C>G	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Pro9Ser	rs566068139	missense variant	-	NC_000012.12:g.112446286C>T	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Pro9Gln	rs536503257	missense variant	-	NC_000012.12:g.112446287C>A	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Asn10Asp	rs368633510	missense variant	-	NC_000012.12:g.112446289A>G	ESP,ExAC,gnomAD
PTPN11	Q06124	p.Asn10Ser	rs200613531	missense variant	-	NC_000012.12:g.112446290A>G	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Ile11Val	rs1472357430	missense variant	-	NC_000012.12:g.112446292A>G	gnomAD
PTPN11	Q06124	p.Ile11Thr	rs1181579972	missense variant	-	NC_000012.12:g.112446293T>C	gnomAD
PTPN11	Q06124	p.Thr12Ala	rs1386827892	missense variant	-	NC_000012.12:g.112446295A>G	gnomAD
PTPN11	Q06124	p.Gly13Asp	COSM430369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112446299G>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Asn18Ser	rs587778635	missense variant	-	NC_000012.12:g.112446314A>G	ExAC,gnomAD
PTPN11	Q06124	p.Asn18Asp	rs776089364	missense variant	-	NC_000012.12:g.112446313A>G	ExAC,gnomAD
PTPN11	Q06124	p.Asn18Ser	RCV000353569	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112446314A>G	ClinVar
PTPN11	Q06124	p.Asn18Ser	RCV000261129	missense variant	Metachondromatosis (METCDS)	NC_000012.12:g.112446314A>G	ClinVar
PTPN11	Q06124	p.Asn18Ser	RCV000318336	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112446314A>G	ClinVar
PTPN11	Q06124	p.Leu20Val	rs753951666	missense variant	-	NC_000012.12:g.112446319C>G	ExAC,gnomAD
PTPN11	Q06124	p.Thr22Ala	rs757537175	missense variant	-	NC_000012.12:g.112446325A>G	ExAC,gnomAD
PTPN11	Q06124	p.Asp26Asn	rs750261927	missense variant	-	NC_000012.12:g.112446337G>A	ExAC,gnomAD
PTPN11	Q06124	p.Asp26Val	rs1247363600	missense variant	-	NC_000012.12:g.112446338A>T	gnomAD
PTPN11	Q06124	p.Asp26Tyr	rs750261927	missense variant	-	NC_000012.12:g.112446337G>T	ExAC,gnomAD
PTPN11	Q06124	p.Ser28Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112446343A>C	NCI-TCGA
PTPN11	Q06124	p.Phe29Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112446347T>G	NCI-TCGA
PTPN11	Q06124	p.Pro33Leu	COSM3456258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112446359C>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Lys35Glu	rs934388335	missense variant	-	NC_000012.12:g.112446364A>G	gnomAD
PTPN11	Q06124	p.Asn37Lys	rs1337565783	missense variant	-	NC_000012.12:g.112446372C>A	gnomAD
PTPN11	Q06124	p.Gly39Arg	rs886041585	missense variant	-	NC_000012.12:g.112446376G>A	-
PTPN11	Q06124	p.Gly39Arg	RCV000265572	missense variant	-	NC_000012.12:g.112446376G>A	ClinVar
PTPN11	Q06124	p.Asp40Gly	rs397516795	missense variant	-	NC_000012.12:g.112446380A>G	-
PTPN11	Q06124	p.Asp40Gly	rs397516795	missense variant	-	NC_000012.12:g.112446380A>G	NCI-TCGA
PTPN11	Q06124	p.Asp40Gly	RCV000037607	missense variant	-	NC_000012.12:g.112446380A>G	ClinVar
PTPN11	Q06124	p.Thr42Ala	rs397507501	missense variant	-	NC_000012.12:g.112446385A>G	-
PTPN11	Q06124	p.Thr42Ala	RCV000157675	missense variant	-	NC_000012.12:g.112446385A>G	ClinVar
PTPN11	Q06124	p.Thr42Ala	RCV000227194	missense variant	Rasopathy	NC_000012.12:g.112446385A>G	ClinVar
PTPN11	Q06124	p.Thr42Ala	RCV000157002	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112446385A>G	ClinVar
PTPN11	Q06124	p.Leu43Phe	RCV000680807	missense variant	-	NC_000012.12:g.112446388C>T	ClinVar
PTPN11	Q06124	p.Leu43Phe	RCV000805888	missense variant	Rasopathy	NC_000012.12:g.112446388C>T	ClinVar
PTPN11	Q06124	p.Val45Ile	COSM4718910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112446394G>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Asn48Ser	rs765495843	missense variant	-	NC_000012.12:g.112450323A>G	ExAC,gnomAD
PTPN11	Q06124	p.Ala50Thr	rs587778636	missense variant	-	NC_000012.12:g.112450328G>A	ExAC,gnomAD
PTPN11	Q06124	p.Ala50Thr	RCV000121912	missense variant	-	NC_000012.12:g.112450328G>A	ClinVar
PTPN11	Q06124	p.Thr52Ser	COSM13993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112450335C>G	NCI-TCGA Cosmic
PTPN11	Q06124	p.Thr52Ile	rs397507503	missense variant	-	NC_000012.12:g.112450335C>T	-
PTPN11	Q06124	p.Thr52Ile	RCV000809051	missense variant	Rasopathy	NC_000012.12:g.112450335C>T	ClinVar
PTPN11	Q06124	p.Ile54Thr	COSM1677359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112450341T>C	NCI-TCGA Cosmic
PTPN11	Q06124	p.Lys55Asn	COSM935274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112450345G>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Lys55Arg	rs1261667540	missense variant	-	NC_000012.12:g.112450344A>G	TOPMed
PTPN11	Q06124	p.Ile56Val	RCV000154561	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450346A>G	ClinVar
PTPN11	Q06124	p.Ile56Thr	rs1052382672	missense variant	-	NC_000012.12:g.112450347T>C	TOPMed
PTPN11	Q06124	p.Ile56Thr	RCV000531774	missense variant	Rasopathy	NC_000012.12:g.112450347T>C	ClinVar
PTPN11	Q06124	p.Asn58Tyr	rs397507505	missense variant	-	NC_000012.12:g.112450352A>T	-
PTPN11	Q06124	p.Asn58Asp	rs397507505	missense variant	-	NC_000012.12:g.112450352A>G	-
PTPN11	Q06124	p.Asn58Ser	RCV000780655	missense variant	-	NC_000012.12:g.112450353A>G	ClinVar
PTPN11	Q06124	p.Asn58Ser	RCV000413828	missense variant	-	NC_000012.12:g.112450353A>G	ClinVar
PTPN11	Q06124	p.Asn58His	rs397507505	missense variant	-	NC_000012.12:g.112450352A>C	-
PTPN11	Q06124	p.Asn58Asp	RCV000768061	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450352A>G	ClinVar
PTPN11	Q06124	p.Asn58Lys	RCV000587067	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450354C>A	ClinVar
PTPN11	Q06124	p.Asn58His	RCV000037626	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450352A>C	ClinVar
PTPN11	Q06124	p.Asn58Lys	RCV000556984	missense variant	Rasopathy	NC_000012.12:g.112450354C>A	ClinVar
PTPN11	Q06124	p.Asn58Asp	RCV000033455	missense variant	-	NC_000012.12:g.112450352A>G	ClinVar
PTPN11	Q06124	p.Asn58Asp	RCV000234028	missense variant	Rasopathy	NC_000012.12:g.112450352A>G	ClinVar
PTPN11	Q06124	p.Asn58His	RCV000456871	missense variant	Rasopathy	NC_000012.12:g.112450352A>C	ClinVar
PTPN11	Q06124	p.Asn58Tyr	RCV000159042	missense variant	-	NC_000012.12:g.112450352A>T	ClinVar
PTPN11	Q06124	p.Asn58Lys	RCV000037629	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450354C>A	ClinVar
PTPN11	Q06124	p.Asn58His	RCV000157676	missense variant	-	NC_000012.12:g.112450352A>C	ClinVar
PTPN11	Q06124	p.Asn58Ser	rs751437780	missense variant	-	NC_000012.12:g.112450353A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Asn58Lys	rs397507506	missense variant	-	NC_000012.12:g.112450354C>G	-
PTPN11	Q06124	p.Asn58Asp	RCV000037627	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450352A>G	ClinVar
PTPN11	Q06124	p.Asn58Lys	RCV000037630	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450354C>G	ClinVar
PTPN11	Q06124	p.Asn58Lys	RCV000157677	missense variant	-	NC_000012.12:g.112450354C>A	ClinVar
PTPN11	Q06124	p.Asn58Ser	RCV000691488	missense variant	Rasopathy	NC_000012.12:g.112450353A>G	ClinVar
PTPN11	Q06124	p.Thr59Ala	rs886043790	missense variant	-	NC_000012.12:g.112450355A>G	TOPMed,gnomAD
PTPN11	Q06124	p.Thr59Ala	RCV000390743	missense variant	-	NC_000012.12:g.112450355A>G	ClinVar
PTPN11	Q06124	p.Gly60Ser	rs397507507	missense variant	-	NC_000012.12:g.112450358G>A	-
PTPN11	Q06124	p.Gly60Ala	RCV000033461	missense variant	-	NC_000012.12:g.112450359G>C	ClinVar
PTPN11	Q06124	p.Gly60Arg	RCV000413720	missense variant	-	NC_000012.12:g.112450358G>C	ClinVar
PTPN11	Q06124	p.Gly60Cys	RCV000034327	missense variant	-	NC_000012.12:g.112450358G>T	ClinVar
PTPN11	Q06124	p.GlyAsp60GlyAsn	rs1057517935	missense variant	-	NC_000012.12:g.112450360_112450361delinsAA	-
PTPN11	Q06124	p.Gly60Ser	RCV000157700	missense variant	-	NC_000012.12:g.112450358G>A	ClinVar
PTPN11	Q06124	p.Gly60Ala	RCV000416546	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450359G>C	ClinVar
PTPN11	Q06124	p.Gly60Cys	rs397507507	missense variant	-	NC_000012.12:g.112450358G>T	-
PTPN11	Q06124	p.Gly60Arg	rs397507507	missense variant	-	NC_000012.12:g.112450358G>C	-
PTPN11	Q06124	p.Gly60Ala	RCV000459297	missense variant	Rasopathy	NC_000012.12:g.112450359G>C	ClinVar
PTPN11	Q06124	p.Gly60Val	RCV000049228	missense variant	-	NC_000012.12:g.112450359G>T	ClinVar
PTPN11	Q06124	p.Gly60Ala	RCV000037631	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450359G>C	ClinVar
PTPN11	Q06124	p.Gly60Ser	RCV000151684	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450358G>A	ClinVar
PTPN11	Q06124	p.Gly60Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112450359G>A	NCI-TCGA
PTPN11	Q06124	p.Asp61Asn	rs397507510	missense variant	-	NC_000012.12:g.112450361G>A	-
PTPN11	Q06124	p.Asp61His	rs397507510	missense variant	-	NC_000012.12:g.112450361G>C	-
PTPN11	Q06124	p.Asp61Tyr	RCV000215649	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112450361G>T	ClinVar
PTPN11	Q06124	p.Asp61Val	rs121918461	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450362A>T	UniProt,dbSNP
PTPN11	Q06124	p.Asp61Val	VAR_015991	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450362A>T	UniProt
PTPN11	Q06124	p.Asp61His	RCV000589874	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450361G>C	ClinVar
PTPN11	Q06124	p.Asp61Asn	RCV000033463	missense variant	Rasopathy	NC_000012.12:g.112450361G>A	ClinVar
PTPN11	Q06124	p.Asp61Asn	RCV000576434	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450361G>A	ClinVar
PTPN11	Q06124	p.Asp61Asn	RCV000157678	missense variant	-	NC_000012.12:g.112450361G>A	ClinVar
PTPN11	Q06124	p.Asp61Asn	RCV000586404	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450361G>A	ClinVar
PTPN11	Q06124	p.Asp61Gly	RCV000824738	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450362A>G	ClinVar
PTPN11	Q06124	p.Asp61Gly	RCV000077856	missense variant	-	NC_000012.12:g.112450362A>G	ClinVar
PTPN11	Q06124	p.Asp61Asn	RCV000599619	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450361G>A	ClinVar
PTPN11	Q06124	p.Asp61His	RCV000033462	missense variant	-	NC_000012.12:g.112450361G>C	ClinVar
PTPN11	Q06124	p.Asp61Gly	RCV000156984	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450362A>G	ClinVar
PTPN11	Q06124	p.Asp61Gly	RCV000033464	missense variant	Rasopathy	NC_000012.12:g.112450362A>G	ClinVar
PTPN11	Q06124	p.Asp61Gly	RCV000014258	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450362A>G	ClinVar
PTPN11	Q06124	p.Asp61Gly	RCV000626829	missense variant	-	NC_000012.12:g.112450362A>G	ClinVar
PTPN11	Q06124	p.Asp61Gly	rs121918461	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450362A>G	-
PTPN11	Q06124	p.Asp61Tyr	rs397507510	missense variant	-	NC_000012.12:g.112450361G>T	-
PTPN11	Q06124	p.Asp61Gly	rs121918461	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450362A>G	UniProt,dbSNP
PTPN11	Q06124	p.Asp61Gly	VAR_015603	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450362A>G	UniProt
PTPN11	Q06124	p.Asp61Ala	rs121918461	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450362A>C	-
PTPN11	Q06124	p.Asp61Asn	RCV000412983	missense variant	-	NC_000012.12:g.112450360_112450361delinsAA	ClinVar
PTPN11	Q06124	p.Asp61Ala	RCV000156008	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450362A>C	ClinVar
PTPN11	Q06124	p.Tyr62Asp	rs121918460	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450364T>G	ExAC,gnomAD
PTPN11	Q06124	p.Tyr62Asp	rs121918460	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450364T>G	UniProt,dbSNP
PTPN11	Q06124	p.Tyr62Asp	VAR_015605	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450364T>G	UniProt
PTPN11	Q06124	p.Tyr62Asp	RCV000153794	missense variant	-	NC_000012.12:g.112450364T>G	ClinVar
PTPN11	Q06124	p.Tyr62Asp	RCV000762882	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112450364T>G	ClinVar
PTPN11	Q06124	p.Tyr62Asp	RCV000590972	missense variant	Secundum atrial septal defect	NC_000012.12:g.112450364T>G	ClinVar
PTPN11	Q06124	p.Tyr62Asp	RCV000014257	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450364T>G	ClinVar
PTPN11	Q06124	p.Tyr62Asp	RCV000824739	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450364T>G	ClinVar
PTPN11	Q06124	p.Tyr62Asn	rs121918460	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450364T>A	ExAC,gnomAD
PTPN11	Q06124	p.Tyr62Cys	rs1013419211	missense variant	-	NC_000012.12:g.112450365A>G	TOPMed,gnomAD
PTPN11	Q06124	p.Tyr62Asp	RCV000033466	missense variant	Rasopathy	NC_000012.12:g.112450364T>G	ClinVar
PTPN11	Q06124	p.Tyr62Asp	RCV000156993	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450364T>G	ClinVar
PTPN11	Q06124	p.Tyr62Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.112450366C>G	NCI-TCGA
PTPN11	Q06124	p.Tyr63Cys	rs121918459	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450368A>G	UniProt,dbSNP
PTPN11	Q06124	p.Tyr63Cys	VAR_015606	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450368A>G	UniProt
PTPN11	Q06124	p.Tyr63Cys	rs121918459	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450368A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Tyr63Cys	RCV000077857	missense variant	-	NC_000012.12:g.112450368A>G	ClinVar
PTPN11	Q06124	p.Tyr63Cys	RCV000033468	missense variant	Rasopathy	NC_000012.12:g.112450368A>G	ClinVar
PTPN11	Q06124	p.Tyr63Cys	RCV000588678	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450368A>G	ClinVar
PTPN11	Q06124	p.Tyr63Cys	rs1057517917	missense variant	-	NC_000012.12:g.112450368_112450369delinsGC	-
PTPN11	Q06124	p.Tyr63Cys	RCV000413931	missense variant	-	NC_000012.12:g.112450368_112450369delinsGC	ClinVar
PTPN11	Q06124	p.Tyr63Cys	RCV000722014	missense variant	Lymphoma	NC_000012.12:g.112450368A>G	ClinVar
PTPN11	Q06124	p.Tyr63Cys	RCV000515408	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450368A>G	ClinVar
PTPN11	Q06124	p.Tyr63Cys	RCV000157000	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450368A>G	ClinVar
PTPN11	Q06124	p.Tyr63Cys	RCV000014261	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450368A>G	ClinVar
PTPN11	Q06124	p.Asp64Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112450371A>G	NCI-TCGA
PTPN11	Q06124	p.Glu69Gln	RCV000037633	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450385G>C	ClinVar
PTPN11	Q06124	p.Glu69Gln	RCV000033469	missense variant	Rasopathy	NC_000012.12:g.112450385G>C	ClinVar
PTPN11	Q06124	p.Glu69Val	RCV000589756	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450386A>T	ClinVar
PTPN11	Q06124	p.Glu69Lys	RCV000210038	missense variant	-	NC_000012.12:g.112450385G>A	ClinVar
PTPN11	Q06124	p.Glu69Val	RCV000151687	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450386A>T	ClinVar
PTPN11	Q06124	p.Glu69Gln	RCV000212889	missense variant	-	NC_000012.12:g.112450385G>C	ClinVar
PTPN11	Q06124	p.Glu69Lys	rs397507511	missense variant	-	NC_000012.12:g.112450385G>A	ExAC
PTPN11	Q06124	p.Glu69Gln	rs397507511	missense variant	-	NC_000012.12:g.112450385G>C	ExAC
PTPN11	Q06124	p.Glu69Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112450387G>T	NCI-TCGA
PTPN11	Q06124	p.Lys70Arg	RCV000206837	missense variant	Rasopathy	NC_000012.12:g.112450389A>G	ClinVar
PTPN11	Q06124	p.Lys70Arg	RCV000405696	missense variant	-	NC_000012.12:g.112450389A>G	ClinVar
PTPN11	Q06124	p.Phe71Cys	rs755709231	missense variant	-	NC_000012.12:g.112450392T>G	ExAC,gnomAD
PTPN11	Q06124	p.Phe71Leu	COSM13029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112450393T>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Phe71Leu	RCV000593077	missense variant	-	NC_000012.12:g.112450393T>G	ClinVar
PTPN11	Q06124	p.Phe71Val	RCV000159044	missense variant	-	NC_000012.12:g.112450391T>G	ClinVar
PTPN11	Q06124	p.Phe71Leu	RCV000586528	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450391T>C	ClinVar
PTPN11	Q06124	p.Phe71Val	rs397507512	missense variant	-	NC_000012.12:g.112450391T>G	-
PTPN11	Q06124	p.Phe71Leu	rs397507512	missense variant	-	NC_000012.12:g.112450391T>C	-
PTPN11	Q06124	p.Phe71Leu	rs1555267558	missense variant	-	NC_000012.12:g.112450393T>G	-
PTPN11	Q06124	p.Phe71Leu	RCV000151689	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450391T>C	ClinVar
PTPN11	Q06124	p.Phe71Leu	RCV000534502	missense variant	Rasopathy	NC_000012.12:g.112450393T>G	ClinVar
PTPN11	Q06124	p.Phe71Lys	VAR_015994	Missense	-	-	UniProt
PTPN11	Q06124	p.Ala72Val	rs121918454	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450395C>T	-
PTPN11	Q06124	p.Ala72Val	rs121918454	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450395C>T	UniProt,dbSNP
PTPN11	Q06124	p.Ala72Val	VAR_015997	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450395C>T	UniProt
PTPN11	Q06124	p.Ala72Ser	RCV000212890	missense variant	-	NC_000012.12:g.112450394G>T	ClinVar
PTPN11	Q06124	p.Ala72Ser	RCV000014252	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	ClinVar
PTPN11	Q06124	p.Ala72Ser	RCV000033471	missense variant	Rasopathy	NC_000012.12:g.112450394G>T	ClinVar
PTPN11	Q06124	p.Ala72Asp	RCV000440942	missense variant	Neoplasm of brain	NC_000012.12:g.112450395C>A	ClinVar
PTPN11	Q06124	p.Ala72Gly	RCV000707460	missense variant	Rasopathy	NC_000012.12:g.112450395C>G	ClinVar
PTPN11	Q06124	p.Ala72Asp	RCV000430256	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000012.12:g.112450395C>A	ClinVar
PTPN11	Q06124	p.Ala72Ser	RCV000576667	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	ClinVar
PTPN11	Q06124	p.Ala72Pro	RCV000033472	missense variant	-	NC_000012.12:g.112450394G>C	ClinVar
PTPN11	Q06124	p.Ala72Thr	RCV000680626	missense variant	-	NC_000012.12:g.112450394G>A	ClinVar
PTPN11	Q06124	p.Ala72Gly	RCV000014253	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450395C>G	ClinVar
PTPN11	Q06124	p.Ala72Val	RCV000413699	missense variant	-	NC_000012.12:g.112450395C>T	ClinVar
PTPN11	Q06124	p.Ala72Asp	RCV000441142	missense variant	Neuroblastoma (NBLST1)	NC_000012.12:g.112450395C>A	ClinVar
PTPN11	Q06124	p.Ala72Ser	RCV000157001	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450394G>T	ClinVar
PTPN11	Q06124	p.Ala72Ser	RCV000762883	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	ClinVar
PTPN11	Q06124	p.Ala72Asp	RCV000420417	missense variant	Acute myeloid leukemia (AML)	NC_000012.12:g.112450395C>A	ClinVar
PTPN11	Q06124	p.Ala72Gly	RCV000157006	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450395C>G	ClinVar
PTPN11	Q06124	p.Ala72Gly	rs121918454	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450395C>G	UniProt,dbSNP
PTPN11	Q06124	p.Ala72Gly	VAR_015607	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450395C>G	UniProt
PTPN11	Q06124	p.Ala72Thr	rs121918453	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450394G>A	UniProt,dbSNP
PTPN11	Q06124	p.Ala72Thr	VAR_015996	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450394G>A	UniProt
PTPN11	Q06124	p.Ala72Ser	rs121918453	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	UniProt,dbSNP
PTPN11	Q06124	p.Ala72Ser	VAR_015608	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	UniProt
PTPN11	Q06124	p.Ala72Ser	rs121918453	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450394G>T	-
PTPN11	Q06124	p.Ala72Gly	RCV000157679	missense variant	-	NC_000012.12:g.112450395C>G	ClinVar
PTPN11	Q06124	p.Ala72Gly	RCV000587329	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450395C>G	ClinVar
PTPN11	Q06124	p.Ala72Gly	RCV000515213	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450395C>G	ClinVar
PTPN11	Q06124	p.Thr73Pro	rs397507513	missense variant	-	NC_000012.12:g.112450397A>C	-
PTPN11	Q06124	p.Thr73Ile	RCV000515312	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450398C>T	ClinVar
PTPN11	Q06124	p.Thr73Leu	RCV000037637	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450397_112450398delinsCT	ClinVar
PTPN11	Q06124	p.Thr73Ile	RCV000014262	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450398C>T	ClinVar
PTPN11	Q06124	p.Thr73Ile	RCV000033475	missense variant	Rasopathy	NC_000012.12:g.112450398C>T	ClinVar
PTPN11	Q06124	p.Thr73Leu	rs397516802	missense variant	-	NC_000012.12:g.112450397_112450398delinsCT	-
PTPN11	Q06124	p.Thr73Ile	rs121918462	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450398C>T	-
PTPN11	Q06124	p.Thr73Ile	rs121918462	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450398C>T	UniProt,dbSNP
PTPN11	Q06124	p.Thr73Ile	VAR_015609	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450398C>T	UniProt
PTPN11	Q06124	p.Thr73Pro	RCV000033474	missense variant	-	NC_000012.12:g.112450397A>C	ClinVar
PTPN11	Q06124	p.Thr73Ile	RCV000156985	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450398C>T	ClinVar
PTPN11	Q06124	p.Thr73Ile	RCV000212891	missense variant	-	NC_000012.12:g.112450398C>T	ClinVar
PTPN11	Q06124	p.Thr73Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112450397A>G	NCI-TCGA
PTPN11	Q06124	p.Ala75Pro	RCV000528111	missense variant	Rasopathy	NC_000012.12:g.112450403G>C	ClinVar
PTPN11	Q06124	p.Ala75Gly	rs1456360392	missense variant	-	NC_000012.12:g.112450404C>G	gnomAD
PTPN11	Q06124	p.Ala75Pro	rs1555267561	missense variant	-	NC_000012.12:g.112450403G>C	-
PTPN11	Q06124	p.Glu76Val	rs121918465	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>T	UniProt,dbSNP
PTPN11	Q06124	p.Glu76Val	VAR_016001	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>T	UniProt
PTPN11	Q06124	p.Glu76Asp	RCV000472904	missense variant	Rasopathy	NC_000012.12:g.112450408G>C	ClinVar
PTPN11	Q06124	p.Glu76Asp	RCV000033479	missense variant	-	NC_000012.12:g.112450408G>C	ClinVar
PTPN11	Q06124	p.Glu76Lys	RCV000422851	missense variant	Multiple myeloma (MM)	NC_000012.12:g.112450406G>A	ClinVar
PTPN11	Q06124	p.Glu76Gly	RCV000437931	missense variant	Multiple myeloma (MM)	NC_000012.12:g.112450407A>G	ClinVar
PTPN11	Q06124	p.Glu76Val	RCV000781775	missense variant	Rasopathy	NC_000012.12:g.112450407A>T	ClinVar
PTPN11	Q06124	p.Glu76Gly	RCV000427060	missense variant	Squamous cell lung carcinoma	NC_000012.12:g.112450407A>G	ClinVar
PTPN11	Q06124	p.Glu76Asp	RCV000254683	missense variant	-	NC_000012.12:g.112450408G>T	ClinVar
PTPN11	Q06124	p.Glu76Asp	RCV000033478	missense variant	Rasopathy	NC_000012.12:g.112450408G>T	ClinVar
PTPN11	Q06124	p.Glu76Gly	RCV000419574	missense variant	Neoplasm of the large intestine	NC_000012.12:g.112450407A>G	ClinVar
PTPN11	Q06124	p.Glu76Lys	RCV000432364	missense variant	Astrocytoma	NC_000012.12:g.112450406G>A	ClinVar
PTPN11	Q06124	p.Glu76Val	RCV000788241	missense variant	-	NC_000012.12:g.112450407A>T	ClinVar
PTPN11	Q06124	p.Glu76Gly	RCV000420699	missense variant	Astrocytoma	NC_000012.12:g.112450407A>G	ClinVar
PTPN11	Q06124	p.Glu76Lys	RCV000433549	missense variant	Squamous cell lung carcinoma	NC_000012.12:g.112450406G>A	ClinVar
PTPN11	Q06124	p.Glu76Lys	RCV000422541	missense variant	Neuroblastoma (NBLST1)	NC_000012.12:g.112450406G>A	ClinVar
PTPN11	Q06124	p.Glu76Ala	RCV000033477	missense variant	-	NC_000012.12:g.112450407A>C	ClinVar
PTPN11	Q06124	p.Glu76Asp	rs397507514	missense variant	-	NC_000012.12:g.112450408G>T	-
PTPN11	Q06124	p.Glu76Asp	rs397507514	missense variant	-	NC_000012.12:g.112450408G>C	-
PTPN11	Q06124	p.Glu76Lys	rs121918464	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450406G>A	UniProt,dbSNP
PTPN11	Q06124	p.Glu76Lys	VAR_016000	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450406G>A	UniProt
PTPN11	Q06124	p.Glu76Ala	rs121918465	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>C	UniProt,dbSNP
PTPN11	Q06124	p.Glu76Ala	VAR_015998	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>C	UniProt
PTPN11	Q06124	p.Glu76Asp	RCV000037638	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450408G>C	ClinVar
PTPN11	Q06124	p.Glu76Asp	RCV000762884	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450408G>T	ClinVar
PTPN11	Q06124	p.Glu76Asp	RCV000037639	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450408G>T	ClinVar
PTPN11	Q06124	p.Glu76Gly	rs121918465	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>G	UniProt,dbSNP
PTPN11	Q06124	p.Glu76Gly	VAR_015999	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>G	UniProt
PTPN11	Q06124	p.Glu76Gly	rs121918465	missense variant	Juvenile myelomonocytic leukemia (jmml)	NC_000012.12:g.112450407A>G	-
PTPN11	Q06124	p.Glu76Val	RCV000014265	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112450407A>T	ClinVar
PTPN11	Q06124	p.Glu76Lys	RCV000439757	missense variant	Neoplasm of the large intestine	NC_000012.12:g.112450406G>A	ClinVar
PTPN11	Q06124	p.Glu76Ala	RCV000014267	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112450407A>C	ClinVar
PTPN11	Q06124	p.Glu76Gly	RCV000437713	missense variant	Neuroblastoma (NBLST1)	NC_000012.12:g.112450407A>G	ClinVar
PTPN11	Q06124	p.Glu76Gln	RCV000159045	missense variant	-	NC_000012.12:g.112450406G>C	ClinVar
PTPN11	Q06124	p.Gln79Lys	rs397516803	missense variant	-	NC_000012.12:g.112450415C>A	-
PTPN11	Q06124	p.Gln79Arg	rs121918466	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450416A>G	-
PTPN11	Q06124	p.Gln79Arg	rs121918466	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450416A>G	UniProt,dbSNP
PTPN11	Q06124	p.Gln79Arg	VAR_015611	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450416A>G	UniProt
PTPN11	Q06124	p.Gln79Arg	RCV000515381	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450416A>G	ClinVar
PTPN11	Q06124	p.Gln79Arg	RCV000157680	missense variant	-	NC_000012.12:g.112450416A>G	ClinVar
PTPN11	Q06124	p.Gln79Arg	RCV000590740	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450416A>G	ClinVar
PTPN11	Q06124	p.Gln79Arg	RCV000037641	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450416A>G	ClinVar
PTPN11	Q06124	p.Gln79His	rs748952554	missense variant	-	NC_000012.12:g.112450417G>C	ExAC,gnomAD
PTPN11	Q06124	p.Gln79Lys	RCV000037640	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450415C>A	ClinVar
PTPN11	Q06124	p.Gln79Arg	RCV000033480	missense variant	Rasopathy	NC_000012.12:g.112450416A>G	ClinVar
PTPN11	Q06124	p.Gln79Arg	RCV000014268	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450416A>G	ClinVar
PTPN11	Q06124	p.Gln79Pro	VAR_027186	Missense	Noonan syndrome 1 (NS1) [MIM:163950]	-	UniProt
PTPN11	Q06124	p.Met82Lys	rs1403012975	missense variant	-	NC_000012.12:g.112450425T>A	gnomAD
PTPN11	Q06124	p.Met82Val	rs397507515	missense variant	-	NC_000012.12:g.112450424A>G	gnomAD
PTPN11	Q06124	p.Met82Val	RCV000522529	missense variant	Rasopathy	NC_000012.12:g.112450424A>G	ClinVar
PTPN11	Q06124	p.Met82Val	RCV000724722	missense variant	-	NC_000012.12:g.112450424A>G	ClinVar
PTPN11	Q06124	p.Glu83Lys	rs1319495648	missense variant	-	NC_000012.12:g.112450427G>A	gnomAD
PTPN11	Q06124	p.Gly86Trp	rs925129380	missense variant	-	NC_000012.12:g.112450436G>T	TOPMed
PTPN11	Q06124	p.Gly86Arg	rs925129380	missense variant	-	NC_000012.12:g.112450436G>A	TOPMed
PTPN11	Q06124	p.Lys91Arg	RCV000210044	missense variant	-	NC_000012.12:g.112450452A>G	ClinVar
PTPN11	Q06124	p.Lys91Arg	rs869312744	missense variant	-	NC_000012.12:g.112450452A>G	gnomAD
PTPN11	Q06124	p.Gly93Arg	rs1225001423	missense variant	-	NC_000012.12:g.112450457G>C	TOPMed
PTPN11	Q06124	p.Glu97Gln	RCV000033482	missense variant	-	NC_000012.12:g.112450469G>C	ClinVar
PTPN11	Q06124	p.Glu97Gln	rs397507516	missense variant	-	NC_000012.12:g.112450469G>C	ExAC,gnomAD
PTPN11	Q06124	p.Lys99Ter	RCV000024261	nonsense	Metachondromatosis (METCDS)	NC_000012.12:g.112450475A>T	ClinVar
PTPN11	Q06124	p.Lys99Ter	rs387907158	stop gained	Metachondromatosis (metcds)	NC_000012.12:g.112450475A>T	-
PTPN11	Q06124	p.Pro101Ala	rs747470140	missense variant	-	NC_000012.12:g.112450481C>G	ExAC,gnomAD
PTPN11	Q06124	p.Asp106Ala	RCV000157021	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450497A>C	ClinVar
PTPN11	Q06124	p.Asp106Ala	rs397507517	missense variant	-	NC_000012.12:g.112450497A>C	-
PTPN11	Q06124	p.Asp106Ala	RCV000033483	missense variant	Rasopathy	NC_000012.12:g.112450497A>C	ClinVar
PTPN11	Q06124	p.Asp106Ala	RCV000212893	missense variant	-	NC_000012.12:g.112450497A>C	ClinVar
PTPN11	Q06124	p.Glu110Ala	rs397507519	missense variant	-	NC_000012.12:g.112450509A>C	-
PTPN11	Q06124	p.Glu110Ala	RCV000033485	missense variant	-	NC_000012.12:g.112450509A>C	ClinVar
PTPN11	Q06124	p.Glu110Lys	RCV000589214	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450508G>A	ClinVar
PTPN11	Q06124	p.Glu110Asp	RCV000681127	missense variant	-	NC_000012.12:g.112450510A>C	ClinVar
PTPN11	Q06124	p.His114Tyr	COSM3456259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453202C>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.His116Gln	rs1482410266	missense variant	-	NC_000012.12:g.112453210T>G	gnomAD
PTPN11	Q06124	p.His116Tyr	rs1053009990	missense variant	-	NC_000012.12:g.112453208C>T	gnomAD
PTPN11	Q06124	p.His116Gln	RCV000594318	missense variant	-	NC_000012.12:g.112453210T>A	ClinVar
PTPN11	Q06124	p.His116Gln	rs1482410266	missense variant	-	NC_000012.12:g.112453210T>A	gnomAD
PTPN11	Q06124	p.Leu117Phe	COSM467817	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453211C>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Ser118Ter	RCV000024257	frameshift	Metachondromatosis (METCDS)	NC_000012.12:g.112453211_112453212CT[2]	ClinVar
PTPN11	Q06124	p.Glu123Asp	RCV000288839	missense variant	-	NC_000012.12:g.112453231G>T	ClinVar
PTPN11	Q06124	p.Glu123Asp	RCV000810975	missense variant	Rasopathy	NC_000012.12:g.112453231G>T	ClinVar
PTPN11	Q06124	p.Glu123Asp	rs755619262	missense variant	-	NC_000012.12:g.112453231G>T	ExAC,gnomAD
PTPN11	Q06124	p.Lys129Glu	rs1401305712	missense variant	-	NC_000012.12:g.112453247A>G	TOPMed
PTPN11	Q06124	p.Lys131Arg	rs397516805	missense variant	-	NC_000012.12:g.112453254A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Lys131Arg	RCV000680297	missense variant	-	NC_000012.12:g.112453254A>G	ClinVar
PTPN11	Q06124	p.Leu136His	COSM4038880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453269T>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Val137Ter	RCV000024255	frameshift	Metachondromatosis (METCDS)	NC_000012.12:g.112453271_112453275del	ClinVar
PTPN11	Q06124	p.Arg138Ter	rs267606989	stop gained	Metachondromatosis (metcds)	NC_000012.12:g.112453274C>T	gnomAD
PTPN11	Q06124	p.Arg138Ter	RCV000014276	nonsense	Metachondromatosis (METCDS)	NC_000012.12:g.112453274C>T	ClinVar
PTPN11	Q06124	p.Arg138Gln	rs1385944040	missense variant	-	NC_000012.12:g.112453275G>A	gnomAD
PTPN11	Q06124	p.Glu139Asp	rs397507520	missense variant	-	NC_000012.12:g.112453279G>T	-
PTPN11	Q06124	p.Glu139Asp	RCV000824742	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112453279G>T	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000585988	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000212894	missense variant	-	NC_000012.12:g.112453279G>T	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000157007	missense variant	-	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000824741	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000033491	missense variant	Rasopathy	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000617179	missense variant	-	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000357736	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000623400	missense variant	Inborn genetic diseases	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	rs397507520	missense variant	-	NC_000012.12:g.112453279G>C	-
PTPN11	Q06124	p.Glu139Asp	RCV000626830	missense variant	Hypertrophic cardiomyopathy	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000521568	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000033490	missense variant	Rasopathy	NC_000012.12:g.112453279G>T	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000515221	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Glu139Asp	RCV000077858	missense variant	-	NC_000012.12:g.112453279G>C	ClinVar
PTPN11	Q06124	p.Ser140Cys	RCV000472224	missense variant	Rasopathy	NC_000012.12:g.112453280A>T	ClinVar
PTPN11	Q06124	p.Ser140Cys	rs1060502527	missense variant	-	NC_000012.12:g.112453280A>T	-
PTPN11	Q06124	p.Ser142Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112453287G>A	NCI-TCGA
PTPN11	Q06124	p.His143Arg	rs1296689385	missense variant	-	NC_000012.12:g.112453290A>G	gnomAD
PTPN11	Q06124	p.Asp146Tyr	COSM935275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453298G>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Phe147Cys	rs1179862540	missense variant	-	NC_000012.12:g.112453302T>G	gnomAD
PTPN11	Q06124	p.Phe147Cys	RCV000681211	missense variant	-	NC_000012.12:g.112453302T>G	ClinVar
PTPN11	Q06124	p.Val151Leu	rs768927453	missense variant	-	NC_000012.12:g.112453313G>C	ExAC,gnomAD
PTPN11	Q06124	p.Val151Ala	rs202026962	missense variant	-	NC_000012.12:g.112453314T>C	1000Genomes
PTPN11	Q06124	p.Arg152Cys	rs1395524782	missense variant	-	NC_000012.12:g.112453316C>T	TOPMed
PTPN11	Q06124	p.Arg152His	rs397507521	missense variant	-	NC_000012.12:g.112453317G>A	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Arg152His	RCV000121913	missense variant	-	NC_000012.12:g.112453317G>A	ClinVar
PTPN11	Q06124	p.Thr153Ala	rs1380290210	missense variant	-	NC_000012.12:g.112453319A>G	TOPMed,gnomAD
PTPN11	Q06124	p.Thr153Ter	RCV000024256	frameshift	Metachondromatosis (METCDS)	NC_000012.12:g.112453320_112453325delinsAAGAACACAGGGGAGAGCA	ClinVar
PTPN11	Q06124	p.Gly154Ala	rs376027245	missense variant	-	NC_000012.12:g.112453323G>C	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gly154Ala	RCV000521157	missense variant	-	NC_000012.12:g.112453323G>C	ClinVar
PTPN11	Q06124	p.Asp155Asn	COSM1358893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453325G>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Asp155Tyr	COSM259200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453325G>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Asp156Gly	rs200712424	missense variant	-	NC_000012.12:g.112453329A>G	1000Genomes
PTPN11	Q06124	p.Asp156Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112453328G>A	NCI-TCGA
PTPN11	Q06124	p.Lys157Arg	rs1315568280	missense variant	-	NC_000012.12:g.112453332A>G	gnomAD
PTPN11	Q06124	p.Gly158Ala	rs1555267825	missense variant	-	NC_000012.12:g.112453335G>C	-
PTPN11	Q06124	p.Gly158Ala	RCV000578106	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112453335G>C	ClinVar
PTPN11	Q06124	p.Gly158Ala	RCV000578050	missense variant	Metachondromatosis (METCDS)	NC_000012.12:g.112453335G>C	ClinVar
PTPN11	Q06124	p.Gly158Ala	RCV000577992	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112453335G>C	ClinVar
PTPN11	Q06124	p.Glu159Asp	rs769848611	missense variant	-	NC_000012.12:g.112453339G>C	ExAC,gnomAD
PTPN11	Q06124	p.Gly163Ser	RCV000159047	missense variant	Rasopathy	NC_000012.12:g.112453349G>A	ClinVar
PTPN11	Q06124	p.Gly163Cys	rs730880992	missense variant	-	NC_000012.12:g.112453349G>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gly163Ser	rs730880992	missense variant	-	NC_000012.12:g.112453349G>A	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gly163Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112453350G>A	NCI-TCGA
PTPN11	Q06124	p.Val167Ala	rs1460204712	missense variant	-	NC_000012.12:g.112453362T>C	gnomAD
PTPN11	Q06124	p.Thr168Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112453364A>G	NCI-TCGA
PTPN11	Q06124	p.His169Ter	RCV000681427	frameshift	-	NC_000012.12:g.112453367del	ClinVar
PTPN11	Q06124	p.Arg173Pro	RCV000521204	missense variant	-	NC_000012.12:g.112453380G>C	ClinVar
PTPN11	Q06124	p.Arg173Pro	rs369155025	missense variant	-	NC_000012.12:g.112453380G>C	ESP,ExAC,gnomAD
PTPN11	Q06124	p.Arg173His	rs369155025	missense variant	-	NC_000012.12:g.112453380G>A	ESP,ExAC,gnomAD
PTPN11	Q06124	p.Arg173Leu	rs369155025	missense variant	-	NC_000012.12:g.112453380G>T	ESP,ExAC,gnomAD
PTPN11	Q06124	p.Arg173Cys	rs545138829	missense variant	-	NC_000012.12:g.112453379C>T	ExAC,gnomAD
PTPN11	Q06124	p.Cys174Tyr	rs1324123217	missense variant	-	NC_000012.12:g.112453383G>A	gnomAD
PTPN11	Q06124	p.Gln175Glu	rs1168475393	missense variant	-	NC_000012.12:g.112453385C>G	gnomAD
PTPN11	Q06124	p.Glu176Gly	rs1290487642	missense variant	-	NC_000012.12:g.112454565A>G	gnomAD
PTPN11	Q06124	p.Leu177Val	rs760660964	missense variant	-	NC_000012.12:g.112454567C>G	ExAC,gnomAD
PTPN11	Q06124	p.Asp180Asn	COSM4641621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112454576G>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Val181Ile	COSM935276	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112454579G>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Gly182Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112454583G>A	NCI-TCGA
PTPN11	Q06124	p.Gly184Arg	rs1238453850	missense variant	-	NC_000012.12:g.112454588G>A	TOPMed
PTPN11	Q06124	p.Arg186Gln	rs764663951	missense variant	-	NC_000012.12:g.112454595G>A	ExAC,gnomAD
PTPN11	Q06124	p.Arg186Trp	rs143433437	missense variant	-	NC_000012.12:g.112454594C>T	NCI-TCGA
PTPN11	Q06124	p.Arg186Trp	rs143433437	missense variant	-	NC_000012.12:g.112454594C>T	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Arg186Trp	RCV000037651	missense variant	-	NC_000012.12:g.112454594C>T	ClinVar
PTPN11	Q06124	p.Asp188His	RCV000522506	missense variant	-	NC_000012.12:g.112454600G>C	ClinVar
PTPN11	Q06124	p.Asp188Gly	rs1436513335	missense variant	-	NC_000012.12:g.112454601A>G	TOPMed,gnomAD
PTPN11	Q06124	p.Asp188His	rs1555267939	missense variant	-	NC_000012.12:g.112454600G>C	-
PTPN11	Q06124	p.Asp188Asn	RCV000781777	missense variant	-	NC_000012.12:g.112454600G>A	ClinVar
PTPN11	Q06124	p.Ser189Ala	rs79068130	missense variant	-	NC_000012.12:g.112454603T>G	ExAC,gnomAD
PTPN11	Q06124	p.Thr191Arg	rs370763866	missense variant	-	NC_000012.12:g.112454610C>G	ExAC,gnomAD
PTPN11	Q06124	p.Thr191Lys	rs370763866	missense variant	-	NC_000012.12:g.112454610C>A	ExAC,gnomAD
PTPN11	Q06124	p.Asp192Tyr	rs1488672907	missense variant	-	NC_000012.12:g.112454612G>T	gnomAD
PTPN11	Q06124	p.Glu195Lys	rs1181200121	missense variant	-	NC_000012.12:g.112454621G>A	TOPMed,gnomAD
PTPN11	Q06124	p.Glu195Asp	rs753107691	missense variant	-	NC_000012.12:g.112454623A>C	ExAC,gnomAD
PTPN11	Q06124	p.Tyr197Ter	rs76982592	stop gained	-	NC_000012.12:g.112454629T>G	ExAC,gnomAD
PTPN11	Q06124	p.Tyr197Cys	rs1266830703	missense variant	-	NC_000012.12:g.112454628A>G	gnomAD
PTPN11	Q06124	p.Lys199Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112454635G>T	NCI-TCGA
PTPN11	Q06124	p.Asn200Tyr	RCV000151696	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112454636A>T	ClinVar
PTPN11	Q06124	p.Asn200Tyr	rs727503381	missense variant	-	NC_000012.12:g.112454636A>T	gnomAD
PTPN11	Q06124	p.Val209Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112454664T>C	NCI-TCGA
PTPN11	Q06124	p.Gln214Lys	COSM3986647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112454678C>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Asn217Lys	rs747243342	missense variant	-	NC_000012.12:g.112455958C>G	ExAC,gnomAD
PTPN11	Q06124	p.Thr218Ser	RCV000589400	missense variant	-	NC_000012.12:g.112455959A>T	ClinVar
PTPN11	Q06124	p.Thr218Ala	rs768555552	missense variant	-	NC_000012.12:g.112455959A>G	ExAC,gnomAD
PTPN11	Q06124	p.Thr218Ala	RCV000597366	missense variant	-	NC_000012.12:g.112455959A>G	ClinVar
PTPN11	Q06124	p.Thr218Ser	rs768555552	missense variant	-	NC_000012.12:g.112455959A>T	ExAC,gnomAD
PTPN11	Q06124	p.Thr218Lys	rs1201590326	missense variant	-	NC_000012.12:g.112455960C>A	gnomAD
PTPN11	Q06124	p.Thr219Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112455962A>G	NCI-TCGA
PTPN11	Q06124	p.Arg220Ter	RCV000037654	nonsense	Metachondromatosis (METCDS)	NC_000012.12:g.112455968del	ClinVar
PTPN11	Q06124	p.Arg220His	rs780911423	missense variant	-	NC_000012.12:g.112455966G>A	ExAC,gnomAD
PTPN11	Q06124	p.Ile221Leu	RCV000037653	missense variant	-	NC_000012.12:g.112455968A>T	ClinVar
PTPN11	Q06124	p.Ile221Val	RCV000159048	missense variant	-	NC_000012.12:g.112455968A>G	ClinVar
PTPN11	Q06124	p.Ile221Leu	rs397516806	missense variant	-	NC_000012.12:g.112455968A>T	gnomAD
PTPN11	Q06124	p.Ile221Val	rs397516806	missense variant	-	NC_000012.12:g.112455968A>G	gnomAD
PTPN11	Q06124	p.Glu225Ter	COSM692039	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.112455980G>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Glu225Asp	COSM1222515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112455982A>C	NCI-TCGA Cosmic
PTPN11	Q06124	p.Ser228Ile	RCV000658340	missense variant	-	NC_000012.12:g.112455990G>T	ClinVar
PTPN11	Q06124	p.Ser228Ile	rs748085966	missense variant	-	NC_000012.12:g.112455990G>T	ExAC,gnomAD
PTPN11	Q06124	p.Val230Ile	rs1239878972	missense variant	-	NC_000012.12:g.112455995G>A	gnomAD
PTPN11	Q06124	p.Arg231Gln	rs1223522089	missense variant	-	NC_000012.12:g.112455999G>A	TOPMed
PTPN11	Q06124	p.Glu232Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.112456001G>T	NCI-TCGA
PTPN11	Q06124	p.Ser234Asn	RCV000159506	missense variant	-	NC_000012.12:g.112456008G>A	ClinVar
PTPN11	Q06124	p.Ser234Asn	rs730881220	missense variant	-	NC_000012.12:g.112456008G>A	-
PTPN11	Q06124	p.Ser234Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112456008G>T	NCI-TCGA
PTPN11	Q06124	p.Asp241Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112456029A>G	NCI-TCGA
PTPN11	Q06124	p.Thr253Ala	rs773918720	missense variant	-	NC_000012.12:g.112472944A>G	ExAC,gnomAD
PTPN11	Q06124	p.Gln255Ter	rs771672596	stop gained	-	NC_000012.12:g.112472950C>T	ExAC,gnomAD
PTPN11	Q06124	p.Gln256Arg	RCV000506790	missense variant	-	NC_000012.12:g.112472954A>G	ClinVar
PTPN11	Q06124	p.Gln256Arg	RCV000585640	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112472954A>G	ClinVar
PTPN11	Q06124	p.Gln256Arg	RCV000824743	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112472954A>G	ClinVar
PTPN11	Q06124	p.Gln256Lys	RCV000680808	missense variant	-	NC_000012.12:g.112472953C>A	ClinVar
PTPN11	Q06124	p.Gln256Glu	rs1391791847	missense variant	-	NC_000012.12:g.112472953C>G	gnomAD
PTPN11	Q06124	p.Glu258Gln	rs1279770165	missense variant	-	NC_000012.12:g.112472959G>C	TOPMed,gnomAD
PTPN11	Q06124	p.Glu258Asp	rs397516809	missense variant	-	NC_000012.12:g.112472961G>T	gnomAD
PTPN11	Q06124	p.Glu258Asp	RCV000159049	missense variant	-	NC_000012.12:g.112472961G>T	ClinVar
PTPN11	Q06124	p.Glu258Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.112472959G>T	NCI-TCGA
PTPN11	Q06124	p.Cys259Ter	rs1378752914	stop gained	-	NC_000012.12:g.112472964C>A	gnomAD
PTPN11	Q06124	p.Lys260Arg	rs773417679	missense variant	-	NC_000012.12:g.112472966A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Leu261His	rs765642157	missense variant	-	NC_000012.12:g.112472969T>A	ExAC,gnomAD
PTPN11	Q06124	p.Leu261Phe	RCV000037657	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112472968C>T	ClinVar
PTPN11	Q06124	p.Leu261Phe	RCV000522926	missense variant	Rasopathy	NC_000012.12:g.112472968C>T	ClinVar
PTPN11	Q06124	p.Leu261Arg	RCV000354323	missense variant	-	NC_000012.12:g.112472969T>G	ClinVar
PTPN11	Q06124	p.Leu261Arg	rs765642157	missense variant	-	NC_000012.12:g.112472969T>G	ExAC,gnomAD
PTPN11	Q06124	p.Leu261Phe	rs397507525	missense variant	-	NC_000012.12:g.112472968C>T	gnomAD
PTPN11	Q06124	p.Leu261Phe	RCV000157701	missense variant	-	NC_000012.12:g.112472968C>T	ClinVar
PTPN11	Q06124	p.Leu262Phe	COSM3456261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112472971C>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Leu262Arg	RCV000106324	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112472972T>G	ClinVar
PTPN11	Q06124	p.Leu262Arg	rs397507526	missense variant	-	NC_000012.12:g.112472972T>G	ExAC,gnomAD
PTPN11	Q06124	p.Leu262His	rs397507526	missense variant	-	NC_000012.12:g.112472972T>A	ExAC,gnomAD
PTPN11	Q06124	p.Leu262Phe	VAR_078103	Missense	Noonan syndrome 1 (NS1) [MIM:163950]	-	UniProt
PTPN11	Q06124	p.Tyr263Cys	rs763617831	missense variant	-	NC_000012.12:g.112472975A>G	ExAC,gnomAD
PTPN11	Q06124	p.Ser264Thr	rs1193712005	missense variant	-	NC_000012.12:g.112472978G>C	gnomAD
PTPN11	Q06124	p.Arg265Gln	RCV000723292	missense variant	PTPN11-related disorder	NC_000012.12:g.112472981G>A	ClinVar
PTPN11	Q06124	p.Arg265Gln	RCV000153788	missense variant	-	NC_000012.12:g.112472981G>A	ClinVar
PTPN11	Q06124	p.Arg265Gln	RCV000037658	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112472981G>A	ClinVar
PTPN11	Q06124	p.Arg265Gln	rs376607329	missense variant	-	NC_000012.12:g.112472981G>A	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Arg265Gln	RCV000477501	missense variant	Rasopathy	NC_000012.12:g.112472981G>A	ClinVar
PTPN11	Q06124	p.Glu267Asp	rs755104848	missense variant	-	NC_000012.12:g.112472988G>T	ExAC,gnomAD
PTPN11	Q06124	p.Gly268Ser	rs397507527	missense variant	-	NC_000012.12:g.112472989G>A	ExAC,gnomAD
PTPN11	Q06124	p.Gly268Ser	RCV000159050	missense variant	-	NC_000012.12:g.112472989G>A	ClinVar
PTPN11	Q06124	p.Gly268Cys	RCV000037660	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112472989G>T	ClinVar
PTPN11	Q06124	p.Gly268Ser	RCV000037659	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112472989G>A	ClinVar
PTPN11	Q06124	p.Gly268Cys	rs397507527	missense variant	-	NC_000012.12:g.112472989G>T	ExAC,gnomAD
PTPN11	Q06124	p.Gly268Ser	RCV000587886	missense variant	Rasopathy	NC_000012.12:g.112472989G>A	ClinVar
PTPN11	Q06124	p.Gln269Arg	RCV000179850	missense variant	-	NC_000012.12:g.112472993A>G	ClinVar
PTPN11	Q06124	p.Gln269Arg	rs794727858	missense variant	-	NC_000012.12:g.112472993A>G	-
PTPN11	Q06124	p.Glu272Lys	rs752966396	missense variant	-	NC_000012.12:g.112473001G>A	ExAC
PTPN11	Q06124	p.Asn275Thr	rs397507528	missense variant	-	NC_000012.12:g.112473011A>C	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Asn275His	rs1167080618	missense variant	-	NC_000012.12:g.112473010A>C	gnomAD
PTPN11	Q06124	p.Lys276Arg	RCV000413183	missense variant	-	NC_000012.12:g.112473014A>G	ClinVar
PTPN11	Q06124	p.Lys276Arg	rs777603059	missense variant	-	NC_000012.12:g.112473014A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Tyr279Ser	rs121918456	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112473023A>C	UniProt,dbSNP
PTPN11	Q06124	p.Tyr279Ser	VAR_027188	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112473023A>C	UniProt
PTPN11	Q06124	p.Tyr279Ser	rs121918456	missense variant	-	NC_000012.12:g.112473023A>C	-
PTPN11	Q06124	p.Tyr279Cys	rs121918456	missense variant	-	NC_000012.12:g.112473023A>G	NCI-TCGA,NCI-TCGA Cosmic
PTPN11	Q06124	p.Tyr279Cys	RCV000577894	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473023A>G	ClinVar
PTPN11	Q06124	p.Tyr279Ser	RCV000055889	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112473023A>C	ClinVar
PTPN11	Q06124	p.Tyr279Cys	rs121918456	missense variant	-	NC_000012.12:g.112473023A>G	-
PTPN11	Q06124	p.Tyr279Cys	rs121918456	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473023A>G	UniProt,dbSNP
PTPN11	Q06124	p.Tyr279Cys	VAR_015614	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473023A>G	UniProt
PTPN11	Q06124	p.Ile282Val	rs397507529	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473031A>G	UniProt,dbSNP
PTPN11	Q06124	p.Ile282Val	VAR_015615	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473031A>G	UniProt
PTPN11	Q06124	p.Ile282Val	rs397507529	missense variant	-	NC_000012.12:g.112473031A>G	TOPMed
PTPN11	Q06124	p.Ile282Val	RCV000824745	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112473031A>G	ClinVar
PTPN11	Q06124	p.Ile282Thr	RCV000349409	missense variant	-	NC_000012.12:g.112473032T>C	ClinVar
PTPN11	Q06124	p.Ile282Val	RCV000077860	missense variant	-	NC_000012.12:g.112473031A>G	ClinVar
PTPN11	Q06124	p.Ile282Val	RCV000624312	missense variant	Inborn genetic diseases	NC_000012.12:g.112473031A>G	ClinVar
PTPN11	Q06124	p.Ile282Val	RCV000033505	missense variant	Rasopathy	NC_000012.12:g.112473031A>G	ClinVar
PTPN11	Q06124	p.Ile282Met	rs397507530	missense variant	-	NC_000012.12:g.112473033C>G	NCI-TCGA,NCI-TCGA Cosmic
PTPN11	Q06124	p.Ile282Met	RCV000037661	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112473033C>G	ClinVar
PTPN11	Q06124	p.Ile282Thr	rs886041495	missense variant	-	NC_000012.12:g.112473032T>C	-
PTPN11	Q06124	p.Leu283Met	rs778374689	missense variant	-	NC_000012.12:g.112473034C>A	ExAC,gnomAD
PTPN11	Q06124	p.Pro284Leu	COSM3456262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112473038C>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Phe285Cys	rs121918463	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477651T>G	-
PTPN11	Q06124	p.Phe285Ser	rs121918463	missense variant	-	NC_000012.12:g.112477651T>C	NCI-TCGA,NCI-TCGA Cosmic
PTPN11	Q06124	p.Phe285Ser	rs121918463	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477651T>C	UniProt,dbSNP
PTPN11	Q06124	p.Phe285Ser	VAR_015616	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477651T>C	UniProt
PTPN11	Q06124	p.Phe285Ser	rs121918463	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477651T>C	-
PTPN11	Q06124	p.Phe285Leu	RCV000623706	missense variant	Inborn genetic diseases	NC_000012.12:g.112473040T>C	ClinVar
PTPN11	Q06124	p.Phe285Leu	RCV000037665	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477652T>G	ClinVar
PTPN11	Q06124	p.Phe285Tyr	RCV000159051	missense variant	-	NC_000012.12:g.112477651T>A	ClinVar
PTPN11	Q06124	p.Phe285Cys	RCV000033513	missense variant	Rasopathy	NC_000012.12:g.112477651T>G	ClinVar
PTPN11	Q06124	p.Phe285Leu	RCV000687570	missense variant	Rasopathy	NC_000012.12:g.112477652T>G	ClinVar
PTPN11	Q06124	p.Phe285Leu	RCV000587757	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112477652T>G	ClinVar
PTPN11	Q06124	p.Phe285Leu	RCV000159052	missense variant	-	NC_000012.12:g.112477652T>G	ClinVar
PTPN11	Q06124	p.Phe285Ser	RCV000037663	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477651T>C	ClinVar
PTPN11	Q06124	p.Phe285Cys	RCV000212895	missense variant	-	NC_000012.12:g.112477651T>G	ClinVar
PTPN11	Q06124	p.Phe285Ser	RCV000077862	missense variant	-	NC_000012.12:g.112477651T>C	ClinVar
PTPN11	Q06124	p.Phe285Ser	RCV000458650	missense variant	Rasopathy	NC_000012.12:g.112477651T>C	ClinVar
PTPN11	Q06124	p.Phe285Leu	rs397516810	missense variant	-	NC_000012.12:g.112477652T>G	-
PTPN11	Q06124	p.Phe285Leu	rs397507531	missense variant	-	NC_000012.12:g.112473040T>C	-
PTPN11	Q06124	p.Phe285Leu	rs397507531	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473040T>C	UniProt,dbSNP
PTPN11	Q06124	p.Phe285Leu	VAR_015617	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473040T>C	UniProt
PTPN11	Q06124	p.Phe285Tyr	rs121918463	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477651T>A	-
PTPN11	Q06124	p.Phe285Ser	RCV000014263	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477651T>C	ClinVar
PTPN11	Q06124	p.Phe285Ser	RCV000190417	missense variant	Early T cell progenitor acute lymphoblastic leukemia	NC_000012.12:g.112477651T>C	ClinVar
PTPN11	Q06124	p.Phe285Cys	RCV000037664	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477651T>G	ClinVar
PTPN11	Q06124	p.Asp286Glu	RCV000037666	missense variant	-	NC_000012.12:g.112477655T>A	ClinVar
PTPN11	Q06124	p.Asp286Glu	rs397516811	missense variant	-	NC_000012.12:g.112477655T>A	-
PTPN11	Q06124	p.Val290Ile	rs1555269782	missense variant	-	NC_000012.12:g.112477665G>A	-
PTPN11	Q06124	p.Val290Ile	RCV000590078	missense variant	-	NC_000012.12:g.112477665G>A	ClinVar
PTPN11	Q06124	p.Val290Ala	rs1340811351	missense variant	-	NC_000012.12:g.112477666T>C	gnomAD
PTPN11	Q06124	p.His293Tyr	rs1283049536	missense variant	-	NC_000012.12:g.112477674C>T	gnomAD
PTPN11	Q06124	p.His293Gln	rs117730996	missense variant	-	NC_000012.12:g.112477676C>G	1000Genomes,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.His293Gln	RCV000320986	missense variant	-	NC_000012.12:g.112477676C>G	ClinVar
PTPN11	Q06124	p.Asp294Gly	rs746607246	missense variant	-	NC_000012.12:g.112477678A>G	ExAC,gnomAD
PTPN11	Q06124	p.Asp294Asn	rs376007642	missense variant	-	NC_000012.12:g.112477677G>A	ESP,TOPMed,gnomAD
PTPN11	Q06124	p.Asp294Tyr	rs376007642	missense variant	-	NC_000012.12:g.112477677G>T	ESP,TOPMed,gnomAD
PTPN11	Q06124	p.Pro297Ala	rs1485809548	missense variant	-	NC_000012.12:g.112477686C>G	gnomAD
PTPN11	Q06124	p.Asn298Ser	rs572274623	missense variant	-	NC_000012.12:g.112477690A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Asn298Ser	RCV000208167	missense variant	Cardio-facio-cutaneous syndrome (CFC1)	NC_000012.12:g.112477690A>G	ClinVar
PTPN11	Q06124	p.Asn298Ser	RCV000159053	missense variant	-	NC_000012.12:g.112477690A>G	ClinVar
PTPN11	Q06124	p.Pro300Thr	rs888674339	missense variant	-	NC_000012.12:g.112477695C>A	TOPMed,gnomAD
PTPN11	Q06124	p.Val301Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112477699T>C	NCI-TCGA
PTPN11	Q06124	p.Ile305Val	RCV000159058	missense variant	-	NC_000012.12:g.112477710A>G	ClinVar
PTPN11	Q06124	p.Ile305Val	rs730880995	missense variant	-	NC_000012.12:g.112477710A>G	-
PTPN11	Q06124	p.Asn308Thr	rs121918455	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477720A>C	-
PTPN11	Q06124	p.Asn308Asp	rs28933386	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477719A>G	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Asn308Asp	rs28933386	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	UniProt,dbSNP
PTPN11	Q06124	p.Asn308Asp	VAR_015619	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	UniProt
PTPN11	Q06124	p.Asn308Ser	rs121918455	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477720A>G	-
PTPN11	Q06124	p.Asn308Ser	rs121918455	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477720A>G	UniProt,dbSNP
PTPN11	Q06124	p.Asn308Ser	VAR_015618	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477720A>G	UniProt
PTPN11	Q06124	p.Asn308Asp	RCV000622835	missense variant	Inborn genetic diseases	NC_000012.12:g.112477719A>G	ClinVar
PTPN11	Q06124	p.Asn308Asp	RCV000621227	missense variant	-	NC_000012.12:g.112477719A>G	ClinVar
PTPN11	Q06124	p.Asn308Asp	RCV000033516	missense variant	Rasopathy	NC_000012.12:g.112477719A>G	ClinVar
PTPN11	Q06124	p.Asn308Asp	RCV000576594	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	ClinVar
PTPN11	Q06124	p.Asn308Asp	RCV000014254	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	ClinVar
PTPN11	Q06124	p.Asn308Ser	rs121918455	missense variant	-	NC_000012.12:g.112477720A>G	NCI-TCGA,NCI-TCGA Cosmic
PTPN11	Q06124	p.Asn308Asp	RCV000515324	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	ClinVar
PTPN11	Q06124	p.Asn308Asp	RCV000077863	missense variant	-	NC_000012.12:g.112477719A>G	ClinVar
PTPN11	Q06124	p.Asn308Asp	RCV000156977	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477719A>G	ClinVar
PTPN11	Q06124	p.Asn308Ser	RCV000033518	missense variant	Rasopathy	NC_000012.12:g.112477720A>G	ClinVar
PTPN11	Q06124	p.Asn308Ser	RCV000157682	missense variant	-	NC_000012.12:g.112477720A>G	ClinVar
PTPN11	Q06124	p.Asn308Ser	RCV000588570	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112477720A>G	ClinVar
PTPN11	Q06124	p.Asn308Thr	RCV000037668	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477720A>C	ClinVar
PTPN11	Q06124	p.Asn308Ser	RCV000515421	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477720A>G	ClinVar
PTPN11	Q06124	p.Asn308Ser	RCV000037669	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477720A>G	ClinVar
PTPN11	Q06124	p.Asn308Asp	RCV000850589	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	ClinVar
PTPN11	Q06124	p.Asn308Asp	rs28933386	missense variant	-	NC_000012.12:g.112477719A>G	NCI-TCGA,NCI-TCGA Cosmic
PTPN11	Q06124	p.Asn308Thr	RCV000033517	missense variant	-	NC_000012.12:g.112477720A>C	ClinVar
PTPN11	Q06124	p.Asn308Ser	RCV000014255	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477720A>G	ClinVar
PTPN11	Q06124	p.Ile309Val	RCV000589645	missense variant	-	NC_000012.12:g.112477722A>G	ClinVar
PTPN11	Q06124	p.Ile309Val	rs201787206	missense variant	-	NC_000012.12:g.112477722A>G	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Ile309Val	rs201787206	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477722A>G	UniProt,dbSNP
PTPN11	Q06124	p.Ile309Val	VAR_015620	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477722A>G	UniProt
PTPN11	Q06124	p.Ile309Val	RCV000151704	missense variant	-	NC_000012.12:g.112477722A>G	ClinVar
PTPN11	Q06124	p.Ile309Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112477724C>G	NCI-TCGA
PTPN11	Q06124	p.Met311Thr	rs201226824	missense variant	-	NC_000012.12:g.112477729T>C	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Met311Val	RCV000412738	missense variant	-	NC_000012.12:g.112477728A>G	ClinVar
PTPN11	Q06124	p.Met311Val	RCV000701867	missense variant	Rasopathy	NC_000012.12:g.112477728A>G	ClinVar
PTPN11	Q06124	p.Met311Val	RCV000719260	missense variant	History of neurodevelopmental disorder	NC_000012.12:g.112477728A>G	ClinVar
PTPN11	Q06124	p.Met311Val	rs774939392	missense variant	-	NC_000012.12:g.112477728A>G	ExAC,gnomAD
PTPN11	Q06124	p.Pro312Ala	rs1340471856	missense variant	-	NC_000012.12:g.112477857C>G	TOPMed
PTPN11	Q06124	p.Pro312Leu	rs1294377445	missense variant	-	NC_000012.12:g.112477858C>T	TOPMed
PTPN11	Q06124	p.Glu313Ter	COSM6135786	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.112477860G>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Phe314Leu	RCV000761000	missense variant	Astrocytoma	NC_000012.12:g.112477863T>C	ClinVar
PTPN11	Q06124	p.Phe314Leu	rs968167995	missense variant	-	NC_000012.12:g.112477863T>C	-
PTPN11	Q06124	p.Thr316Ile	rs547041954	missense variant	-	NC_000012.12:g.112477870C>T	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Cys318Tyr	rs747815170	missense variant	-	NC_000012.12:g.112477876G>A	ExAC,gnomAD
PTPN11	Q06124	p.Asn319Ser	rs1333826013	missense variant	-	NC_000012.12:g.112477879A>G	TOPMed
PTPN11	Q06124	p.Asn319Lys	rs771407775	missense variant	-	NC_000012.12:g.112477880C>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Asn320Ser	rs1398859175	missense variant	-	NC_000012.12:g.112477882A>G	TOPMed
PTPN11	Q06124	p.Asn320Ser	RCV000625873	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477882A>G	ClinVar
PTPN11	Q06124	p.Pro323Ser	rs779400765	missense variant	-	NC_000012.12:g.112477890C>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Pro323Thr	rs779400765	missense variant	-	NC_000012.12:g.112477890C>A	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Lys324Arg	rs772684421	missense variant	-	NC_000012.12:g.112477894A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Tyr327Cys	rs1028787542	missense variant	-	NC_000012.12:g.112477903A>G	TOPMed
PTPN11	Q06124	p.Ile328Thr	rs369430257	missense variant	-	NC_000012.12:g.112477906T>C	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Ala329Thr	rs760769867	missense variant	-	NC_000012.12:g.112477908G>A	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Cys333Ser	rs730880993	missense variant	-	NC_000012.12:g.112477920T>A	-
PTPN11	Q06124	p.Cys333Ser	RCV000159054	missense variant	-	NC_000012.12:g.112477920T>A	ClinVar
PTPN11	Q06124	p.Gln335Pro	rs886041622	missense variant	-	NC_000012.12:g.112477927A>C	-
PTPN11	Q06124	p.Gln335Pro	RCV000792044	missense variant	Rasopathy	NC_000012.12:g.112477927A>C	ClinVar
PTPN11	Q06124	p.Gln335Pro	RCV000377606	missense variant	-	NC_000012.12:g.112477927A>C	ClinVar
PTPN11	Q06124	p.Arg343Trp	rs1373621596	missense variant	-	NC_000012.12:g.112477950C>T	TOPMed,gnomAD
PTPN11	Q06124	p.Arg343Gln	rs535800148	missense variant	-	NC_000012.12:g.112477951G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Arg343Gln	RCV000519427	missense variant	Rasopathy	NC_000012.12:g.112477951G>A	ClinVar
PTPN11	Q06124	p.Arg343Gln	RCV000159507	missense variant	-	NC_000012.12:g.112477951G>A	ClinVar
PTPN11	Q06124	p.Arg343Trp	RCV000619897	missense variant	-	NC_000012.12:g.112477950C>T	ClinVar
PTPN11	Q06124	p.Met344Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112477955G>A	NCI-TCGA
PTPN11	Q06124	p.Val345Met	rs1317602687	missense variant	-	NC_000012.12:g.112477956G>A	NCI-TCGA
PTPN11	Q06124	p.Val345Met	rs1317602687	missense variant	-	NC_000012.12:g.112477956G>A	TOPMed
PTPN11	Q06124	p.Glu348Val	rs1287780991	missense variant	-	NC_000012.12:g.112477966A>T	gnomAD
PTPN11	Q06124	p.Asn349Asp	rs1032908020	missense variant	-	NC_000012.12:g.112477968A>G	TOPMed,gnomAD
PTPN11	Q06124	p.Ser350Ala	rs146571700	missense variant	-	NC_000012.12:g.112477971T>G	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Ser350Ala	RCV000763793	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477971T>G	ClinVar
PTPN11	Q06124	p.Ser350Ala	RCV000033523	missense variant	-	NC_000012.12:g.112477971T>G	ClinVar
PTPN11	Q06124	p.Arg351Gln	RCV000373942	missense variant	-	NC_000012.12:g.112477975G>A	ClinVar
PTPN11	Q06124	p.Arg351Ter	RCV000413347	nonsense	-	NC_000012.12:g.112477974C>T	ClinVar
PTPN11	Q06124	p.Arg351Ter	rs923052172	stop gained	-	NC_000012.12:g.112477974C>T	-
PTPN11	Q06124	p.Arg351Gln	rs397507534	missense variant	-	NC_000012.12:g.112477975G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Arg351Leu	rs397507534	missense variant	-	NC_000012.12:g.112477975G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Val352Leu	rs767192602	missense variant	-	NC_000012.12:g.112477977G>C	ExAC,gnomAD
PTPN11	Q06124	p.Ile353Leu	rs752392909	missense variant	-	NC_000012.12:g.112477980A>C	ExAC,gnomAD
PTPN11	Q06124	p.Thr357Ala	rs755871216	missense variant	-	NC_000012.12:g.112477992A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Thr357Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112477993C>T	NCI-TCGA
PTPN11	Q06124	p.Lys358Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112477995A>C	NCI-TCGA
PTPN11	Q06124	p.Glu361Gln	rs1337767914	missense variant	-	NC_000012.12:g.112478004G>C	TOPMed
PTPN11	Q06124	p.Arg362Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112478008G>A	NCI-TCGA
PTPN11	Q06124	p.Lys364Arg	rs988676659	missense variant	-	NC_000012.12:g.112478014A>G	TOPMed,gnomAD
PTPN11	Q06124	p.Ser365Arg	RCV000781776	missense variant	-	NC_000012.12:g.112482074A>C	ClinVar
PTPN11	Q06124	p.Val368Ile	rs758737605	missense variant	-	NC_000012.12:g.112482083G>A	ExAC,gnomAD
PTPN11	Q06124	p.Trp371Ter	rs1555270113	stop gained	-	NC_000012.12:g.112482093G>A	-
PTPN11	Q06124	p.Trp371Ter	RCV000599235	nonsense	-	NC_000012.12:g.112482093G>A	ClinVar
PTPN11	Q06124	p.Asp373Asn	rs1338792040	missense variant	-	NC_000012.12:g.112482098G>A	gnomAD
PTPN11	Q06124	p.Glu374Gly	rs780328721	missense variant	-	NC_000012.12:g.112482102A>G	ExAC,gnomAD
PTPN11	Q06124	p.Tyr375Cys	RCV000037606	missense variant	-	NC_000012.12:g.112482105A>G	ClinVar
PTPN11	Q06124	p.Tyr375Cys	rs41299183	missense variant	-	NC_000012.12:g.112482105A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Tyr380Cys	rs1444455893	missense variant	-	NC_000012.12:g.112482120A>G	TOPMed
PTPN11	Q06124	p.Val382Ile	rs1214510641	missense variant	-	NC_000012.12:g.112482125G>A	gnomAD
PTPN11	Q06124	p.Val382Ile	RCV000733128	missense variant	-	NC_000012.12:g.112482125G>A	ClinVar
PTPN11	Q06124	p.Met383Thr	rs1260386432	missense variant	-	NC_000012.12:g.112482129T>C	gnomAD
PTPN11	Q06124	p.Arg384Cys	rs748162361	missense variant	-	NC_000012.12:g.112482131C>T	ExAC,TOPMed
PTPN11	Q06124	p.Arg384Cys	rs748162361	missense variant	-	NC_000012.12:g.112482131C>T	NCI-TCGA,NCI-TCGA Cosmic
PTPN11	Q06124	p.Val385Ile	rs769798916	missense variant	-	NC_000012.12:g.112482134G>A	ExAC,gnomAD
PTPN11	Q06124	p.Val388Ile	rs749523268	missense variant	-	NC_000012.12:g.112482143G>A	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Val388Ile	rs749523268	missense variant	-	NC_000012.12:g.112482143G>A	NCI-TCGA
PTPN11	Q06124	p.Val388Ile	RCV000412775	missense variant	-	NC_000012.12:g.112482143G>A	ClinVar
PTPN11	Q06124	p.Ala392Thr	RCV000209886	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112482155G>A	ClinVar
PTPN11	Q06124	p.Ala392Thr	rs774356443	missense variant	-	NC_000012.12:g.112482155G>A	ExAC,gnomAD
PTPN11	Q06124	p.Ala393Thr	rs1214118543	missense variant	-	NC_000012.12:g.112482158G>A	gnomAD
PTPN11	Q06124	p.His394Arg	rs1415532476	missense variant	-	NC_000012.12:g.112482162A>G	TOPMed,gnomAD
PTPN11	Q06124	p.His394Arg	RCV000520163	missense variant	-	NC_000012.12:g.112482162A>G	ClinVar
PTPN11	Q06124	p.Thr397Met	rs767503386	missense variant	-	NC_000012.12:g.112482171C>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Thr397Met	RCV000461011	missense variant	Rasopathy	NC_000012.12:g.112482171C>T	ClinVar
PTPN11	Q06124	p.Thr397Arg	rs767503386	missense variant	-	NC_000012.12:g.112482171C>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Thr397Met	RCV000321441	missense variant	-	NC_000012.12:g.112482171C>T	ClinVar
PTPN11	Q06124	p.Glu400Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112482179G>A	NCI-TCGA
PTPN11	Q06124	p.Val406Ala	rs760221298	missense variant	-	NC_000012.12:g.112482198T>C	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gly407TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.112482197_112482198insT	NCI-TCGA
PTPN11	Q06124	p.Gly409Ala	rs201247699	missense variant	-	NC_000012.12:g.112486476G>C	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gly409Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112486475G>T	NCI-TCGA
PTPN11	Q06124	p.Thr411Met	rs121918467	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112486482C>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Thr411Met	rs121918467	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112486482C>T	UniProt,dbSNP
PTPN11	Q06124	p.Thr411Met	VAR_027189	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112486482C>T	UniProt
PTPN11	Q06124	p.Thr411Met	rs121918467	missense variant	-	NC_000012.12:g.112486482C>T	NCI-TCGA,NCI-TCGA Cosmic
PTPN11	Q06124	p.Thr411Lys	rs121918467	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112486482C>A	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Arg413Lys	rs761510407	missense variant	-	NC_000012.12:g.112486488G>A	ExAC,gnomAD
PTPN11	Q06124	p.Gly413Ala	RCV000037608	missense variant	-	NC_000012.12:g.112486476G>C	ClinVar
PTPN11	Q06124	p.Gly413Ala	RCV000626827	missense variant	-	NC_000012.12:g.112486476G>C	ClinVar
PTPN11	Q06124	p.Arg413Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112486488G>T	NCI-TCGA
PTPN11	Q06124	p.Thr414Met	rs1193000800	missense variant	-	NC_000012.12:g.112486491C>T	gnomAD
PTPN11	Q06124	p.Thr415Met	RCV000014269	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112486482C>T	ClinVar
PTPN11	Q06124	p.His419Tyr	rs1306943402	missense variant	-	NC_000012.12:g.112486505C>T	gnomAD
PTPN11	Q06124	p.Arg421Gln	rs1420362815	missense variant	-	NC_000012.12:g.112486512G>A	TOPMed,gnomAD
PTPN11	Q06124	p.Arg421Trp	rs1355732645	missense variant	-	NC_000012.12:g.112486511C>T	TOPMed,gnomAD
PTPN11	Q06124	p.Pro424Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112486520C>T	NCI-TCGA
PTPN11	Q06124	p.Arg425Gln	RCV000587432	missense variant	-	NC_000012.12:g.112486512G>A	ClinVar
PTPN11	Q06124	p.Arg425Trp	RCV000523921	missense variant	-	NC_000012.12:g.112486511C>T	ClinVar
PTPN11	Q06124	p.His426Pro	rs727505389	missense variant	-	NC_000012.12:g.112486527A>C	-
PTPN11	Q06124	p.His426Leu	COSM3456263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112486527A>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Val428Met	rs397507536	missense variant	-	NC_000012.12:g.112486532G>A	TOPMed,gnomAD
PTPN11	Q06124	p.Val428Met	rs397507536	missense variant	-	NC_000012.12:g.112486532G>A	NCI-TCGA,NCI-TCGA Cosmic
PTPN11	Q06124	p.Val428Ala	rs1458141683	missense variant	-	NC_000012.12:g.112486533T>C	gnomAD
PTPN11	Q06124	p.Pro429Ser	rs756647576	missense variant	-	NC_000012.12:g.112486535C>T	ExAC,gnomAD
PTPN11	Q06124	p.His430Pro	RCV000157022	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112486527A>C	ClinVar
PTPN11	Q06124	p.Ser430Arg	rs1178602062	missense variant	-	NC_000012.12:g.112486540C>A	gnomAD
PTPN11	Q06124	p.Val432Met	RCV000033528	missense variant	-	NC_000012.12:g.112486532G>A	ClinVar
PTPN11	Q06124	p.Pro432Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112486544C>T	NCI-TCGA
PTPN11	Q06124	p.Val435Met	rs1054802954	missense variant	-	NC_000012.12:g.112486553G>A	TOPMed,gnomAD
PTPN11	Q06124	p.His443Tyr	rs779236638	missense variant	-	NC_000012.12:g.112486577C>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Leu443Ter	RCV000024259	frameshift	Metachondromatosis (METCDS)	NC_000012.12:g.112486565del	ClinVar
PTPN11	Q06124	p.His447Tyr	RCV000654964	missense variant	Rasopathy	NC_000012.12:g.112486577C>T	ClinVar
PTPN11	Q06124	p.His447Tyr	RCV000306612	missense variant	-	NC_000012.12:g.112486577C>T	ClinVar
PTPN11	Q06124	p.Ile449Val	rs746112827	missense variant	-	NC_000012.12:g.112486595A>G	ExAC,gnomAD
PTPN11	Q06124	p.Ala452Ser	rs1165173231	missense variant	-	NC_000012.12:g.112486604G>T	gnomAD
PTPN11	Q06124	p.Ala452Ser	rs1165173231	missense variant	-	NC_000012.12:g.112486604G>T	NCI-TCGA
PTPN11	Q06124	p.Gly453Arg	rs1464947249	missense variant	-	NC_000012.12:g.112486607G>C	gnomAD
PTPN11	Q06124	p.Val456Leu	rs397516796	missense variant	-	NC_000012.12:g.112486616G>T	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Val456Met	rs397516796	missense variant	-	NC_000012.12:g.112486616G>A	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Pro458Leu	RCV000722780	missense variant	-	NC_000012.12:g.112486611C>T	ClinVar
PTPN11	Q06124	p.His458Gln	rs727504393	missense variant	-	NC_000012.12:g.112486624C>A	-
PTPN11	Q06124	p.Val460Met	RCV000037610	missense variant	-	NC_000012.12:g.112486616G>A	ClinVar
PTPN11	Q06124	p.Val460Met	RCV000461820	missense variant	Rasopathy	NC_000012.12:g.112486616G>A	ClinVar
PTPN11	Q06124	p.Ala461Gly	rs397509344	missense variant	-	NC_000012.12:g.112488445C>G	-
PTPN11	Q06124	p.Ala461Ser	rs121918468	missense variant	-	NC_000012.12:g.112488444G>T	-
PTPN11	Q06124	p.Ala461Thr	rs121918468	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488444G>A	UniProt,dbSNP
PTPN11	Q06124	p.Ala461Thr	VAR_027190	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488444G>A	UniProt
PTPN11	Q06124	p.Ala461Thr	rs121918468	missense variant	-	NC_000012.12:g.112488444G>A	-
PTPN11	Q06124	p.His462Gln	RCV000154559	missense variant	-	NC_000012.12:g.112486624C>A	ClinVar
PTPN11	Q06124	p.Ile463Leu	COSM935283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112488450A>C	NCI-TCGA Cosmic
PTPN11	Q06124	p.Gly464Ala	rs121918469	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488454G>C	UniProt,dbSNP
PTPN11	Q06124	p.Gly464Ala	VAR_027191	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488454G>C	UniProt
PTPN11	Q06124	p.Gly464Ala	rs121918469	missense variant	-	NC_000012.12:g.112488454G>C	-
PTPN11	Q06124	p.Ala465Thr	RCV000037611	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112488444G>A	ClinVar
PTPN11	Q06124	p.Ala465Thr	RCV000055882	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488444G>A	ClinVar
PTPN11	Q06124	p.Ala465Gly	RCV000614347	missense variant	-	NC_000012.12:g.112488445C>G	ClinVar
PTPN11	Q06124	p.Ala465Ser	RCV000033529	missense variant	-	NC_000012.12:g.112488444G>T	ClinVar
PTPN11	Q06124	p.Ala465Thr	RCV000529342	missense variant	Rasopathy	NC_000012.12:g.112488444G>A	ClinVar
PTPN11	Q06124	p.Ala465Thr	RCV000033530	missense variant	-	NC_000012.12:g.112488444G>A	ClinVar
PTPN11	Q06124	p.Ala465Ser	RCV000037612	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112488444G>T	ClinVar
PTPN11	Q06124	p.Ala465Thr	RCV000587622	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112488444G>A	ClinVar
PTPN11	Q06124	p.Arg465Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112488456C>T	NCI-TCGA
PTPN11	Q06124	p.Arg465Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112488457G>A	NCI-TCGA
PTPN11	Q06124	p.Gly468Ala	RCV000033531	missense variant	Rasopathy	NC_000012.12:g.112488454G>C	ClinVar
PTPN11	Q06124	p.Gly468Ala	RCV000077850	missense variant	-	NC_000012.12:g.112488454G>C	ClinVar
PTPN11	Q06124	p.Gly468Ala	RCV000824746	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112488454G>C	ClinVar
PTPN11	Q06124	p.Thr468Glu	rs886039711	missense variant	-	NC_000012.12:g.112488465_112488466delinsGA	-
PTPN11	Q06124	p.Thr468Pro	rs397507537	missense variant	-	NC_000012.12:g.112488465A>C	-
PTPN11	Q06124	p.Thr468Met	rs121918457	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488466C>T	UniProt,dbSNP
PTPN11	Q06124	p.Thr468Met	VAR_015621	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488466C>T	UniProt
PTPN11	Q06124	p.Thr468Met	rs121918457	missense variant	-	NC_000012.12:g.112488466C>T	ExAC,gnomAD
PTPN11	Q06124	p.Gly468Ala	RCV000055883	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488454G>C	ClinVar
PTPN11	Q06124	p.Ile470Val	rs779978269	missense variant	-	NC_000012.12:g.112488471A>G	ExAC,gnomAD
PTPN11	Q06124	p.Thr472Pro	RCV000033532	missense variant	-	NC_000012.12:g.112488465A>C	ClinVar
PTPN11	Q06124	p.Thr472Glu	RCV000254759	missense variant	-	NC_000012.12:g.112488465_112488466delinsGA	ClinVar
PTPN11	Q06124	p.Thr472Pro	RCV000231162	missense variant	Rasopathy	NC_000012.12:g.112488465A>C	ClinVar
PTPN11	Q06124	p.Thr472Met	RCV000077851	missense variant	-	NC_000012.12:g.112488466C>T	ClinVar
PTPN11	Q06124	p.Ile476Thr	rs1276701553	missense variant	-	NC_000012.12:g.112488490T>C	gnomAD
PTPN11	Q06124	p.Ile478Val	rs1320374464	missense variant	-	NC_000012.12:g.112488495A>G	gnomAD
PTPN11	Q06124	p.Ile479Thr	rs1555270590	missense variant	-	NC_000012.12:g.112488499T>C	-
PTPN11	Q06124	p.Ile479Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112488498A>G	NCI-TCGA
PTPN11	Q06124	p.Arg480Lys	rs754837922	missense variant	-	NC_000012.12:g.112488502G>A	ExAC,gnomAD
PTPN11	Q06124	p.Ile483Thr	RCV000518952	missense variant	-	NC_000012.12:g.112488499T>C	ClinVar
PTPN11	Q06124	p.Asp487Gly	rs730880994	missense variant	-	NC_000012.12:g.112489036A>G	-
PTPN11	Q06124	p.Val490Ile	rs781083623	missense variant	-	NC_000012.12:g.112489044G>A	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Pro491Ser	rs397507539	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489047C>T	UniProt,dbSNP
PTPN11	Q06124	p.Pro491Ser	VAR_071706	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489047C>T	UniProt
PTPN11	Q06124	p.Pro491Ser	rs397507539	missense variant	-	NC_000012.12:g.112489047C>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Asp491Gly	RCV000159055	missense variant	-	NC_000012.12:g.112489036A>G	ClinVar
PTPN11	Q06124	p.Pro491His	rs397507540	missense variant	-	NC_000012.12:g.112489048C>A	-
PTPN11	Q06124	p.Pro491Thr	rs397507539	missense variant	-	NC_000012.12:g.112489047C>A	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Pro491Ala	rs397507539	missense variant	-	NC_000012.12:g.112489047C>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Pro491Leu	rs397507540	missense variant	-	NC_000012.12:g.112489048C>T	-
PTPN11	Q06124	p.Pro495Leu	RCV000033538	missense variant	Rasopathy	NC_000012.12:g.112489048C>T	ClinVar
PTPN11	Q06124	p.Pro495Ser	RCV000033536	missense variant	Rasopathy	NC_000012.12:g.112489047C>T	ClinVar
PTPN11	Q06124	p.Pro495Ala	RCV000159056	missense variant	-	NC_000012.12:g.112489047C>G	ClinVar
PTPN11	Q06124	p.Pro495Thr	RCV000208219	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489047C>A	ClinVar
PTPN11	Q06124	p.Pro495Thr	RCV000660240	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489047C>A	ClinVar
PTPN11	Q06124	p.Pro495Leu	RCV000254685	missense variant	-	NC_000012.12:g.112489048C>T	ClinVar
PTPN11	Q06124	p.Pro495Leu	RCV000156989	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489048C>T	ClinVar
PTPN11	Q06124	p.Pro495Thr	RCV000033535	missense variant	-	NC_000012.12:g.112489047C>A	ClinVar
PTPN11	Q06124	p.Pro495His	RCV000037617	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489048C>A	ClinVar
PTPN11	Q06124	p.Pro495Ser	RCV000254684	missense variant	-	NC_000012.12:g.112489047C>T	ClinVar
PTPN11	Q06124	p.Gln495Glu	rs756104635	missense variant	-	NC_000012.12:g.112489059C>G	ExAC,gnomAD
PTPN11	Q06124	p.Pro495His	RCV000033537	missense variant	-	NC_000012.12:g.112489048C>A	ClinVar
PTPN11	Q06124	p.Pro495Ser	RCV000157010	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489047C>T	ClinVar
PTPN11	Q06124	p.Pro495Thr	RCV000694590	missense variant	Rasopathy	NC_000012.12:g.112489047C>A	ClinVar
PTPN11	Q06124	p.Arg498Trp	rs397507541	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489068C>T	UniProt,dbSNP
PTPN11	Q06124	p.Arg498Trp	VAR_027193	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489068C>T	UniProt
PTPN11	Q06124	p.Arg498Trp	rs397507541	missense variant	-	NC_000012.12:g.112489068C>T	TOPMed,gnomAD
PTPN11	Q06124	p.Arg498Leu	rs397507542	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489069G>T	UniProt,dbSNP
PTPN11	Q06124	p.Arg498Leu	VAR_027192	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489069G>T	UniProt
PTPN11	Q06124	p.Arg498Leu	rs397507542	missense variant	-	NC_000012.12:g.112489069G>T	-
PTPN11	Q06124	p.Ser499Cys	rs1264992160	missense variant	-	NC_000012.12:g.112489072C>G	gnomAD
PTPN11	Q06124	p.Gln500Arg	rs1173984843	missense variant	-	NC_000012.12:g.112489075A>G	TOPMed
PTPN11	Q06124	p.Arg501Lys	rs397507543	missense variant	-	NC_000012.12:g.112489078G>A	-
PTPN11	Q06124	p.Arg501Lys	rs397507543	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489078G>A	UniProt,dbSNP
PTPN11	Q06124	p.Arg501Lys	VAR_015622	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489078G>A	UniProt
PTPN11	Q06124	p.Arg502Leu	RCV000055886	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489069G>T	ClinVar
PTPN11	Q06124	p.Arg502Trp	RCV000623675	missense variant	Inborn genetic diseases	NC_000012.12:g.112489068C>T	ClinVar
PTPN11	Q06124	p.Arg502Leu	RCV000824748	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489069G>T	ClinVar
PTPN11	Q06124	p.Arg502Leu	RCV000494687	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489069G>T	ClinVar
PTPN11	Q06124	p.Arg502Trp	RCV000722171	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489068C>T	ClinVar
PTPN11	Q06124	p.Arg502Leu	RCV000212896	missense variant	-	NC_000012.12:g.112489069G>T	ClinVar
PTPN11	Q06124	p.Arg502Trp	RCV000033539	missense variant	Rasopathy	NC_000012.12:g.112489068C>T	ClinVar
PTPN11	Q06124	p.Arg502Leu	RCV000626828	missense variant	-	NC_000012.12:g.112489069G>T	ClinVar
PTPN11	Q06124	p.Arg502Trp	RCV000254686	missense variant	-	NC_000012.12:g.112489068C>T	ClinVar
PTPN11	Q06124	p.Arg502Trp	RCV000055885	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489068C>T	ClinVar
PTPN11	Q06124	p.Arg502Leu	RCV000033540	missense variant	Rasopathy	NC_000012.12:g.112489069G>T	ClinVar
PTPN11	Q06124	p.Arg502Trp	RCV000824747	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489068C>T	ClinVar
PTPN11	Q06124	p.Ser502Ala	rs121918458	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112489080T>G	-
PTPN11	Q06124	p.Ser502Leu	rs397507544	missense variant	-	NC_000012.12:g.112489081C>T	-
PTPN11	Q06124	p.Ser502Thr	rs121918458	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112489080T>A	-
PTPN11	Q06124	p.Ser502Thr	rs121918458	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489080T>A	UniProt,dbSNP
PTPN11	Q06124	p.Ser502Thr	VAR_015623	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489080T>A	UniProt
PTPN11	Q06124	p.Gly503Arg	rs397507545	missense variant	-	NC_000012.12:g.112489083G>C	gnomAD
PTPN11	Q06124	p.Gly503Arg	rs397507545	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489083G>C	UniProt,dbSNP
PTPN11	Q06124	p.Gly503Arg	VAR_016003	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489083G>C	UniProt
PTPN11	Q06124	p.Ser503Thr	RCV000781772	missense variant	-	NC_000012.12:g.112489071T>A	ClinVar
PTPN11	Q06124	p.Gly503Ala	rs397507546	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112489084G>C	UniProt,dbSNP
PTPN11	Q06124	p.Gly503Ala	VAR_016002	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112489084G>C	UniProt
PTPN11	Q06124	p.Gly503Arg	rs397507545	missense variant	-	NC_000012.12:g.112489083G>A	gnomAD
PTPN11	Q06124	p.Met504Ile	rs1379175668	missense variant	-	NC_000012.12:g.112489088G>A	gnomAD
PTPN11	Q06124	p.Met504Val	rs397507547	missense variant	-	NC_000012.12:g.112489086A>G	gnomAD
PTPN11	Q06124	p.Met504Val	rs397507547	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489086A>G	UniProt,dbSNP
PTPN11	Q06124	p.Met504Val	VAR_015624	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489086A>G	UniProt
PTPN11	Q06124	p.Met504Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112489088G>T	NCI-TCGA
PTPN11	Q06124	p.Arg505Lys	RCV000466382	missense variant	Rasopathy	NC_000012.12:g.112489078G>A	ClinVar
PTPN11	Q06124	p.Arg505Lys	RCV000033541	missense variant	-	NC_000012.12:g.112489078G>A	ClinVar
PTPN11	Q06124	p.Arg505Lys	RCV000037618	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489078G>A	ClinVar
PTPN11	Q06124	p.Ser506Leu	RCV000781773	missense variant	Rasopathy	NC_000012.12:g.112489081C>T	ClinVar
PTPN11	Q06124	p.Ser506Thr	RCV000212897	missense variant	-	NC_000012.12:g.112489080T>A	ClinVar
PTPN11	Q06124	p.Ser506Thr	RCV000156995	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489080T>A	ClinVar
PTPN11	Q06124	p.Ser506Thr	RCV000033543	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112489080T>A	ClinVar
PTPN11	Q06124	p.Gln506Pro	rs397509345	missense variant	-	NC_000012.12:g.112489093_112489094delinsCC	-
PTPN11	Q06124	p.Gln506Pro	rs397509345	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489093_112489094delinsCC	UniProt,dbSNP
PTPN11	Q06124	p.Gln506Pro	VAR_027194	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489093_112489094delinsCC	UniProt
PTPN11	Q06124	p.Gln506Ter	rs387907157	stop gained	Metachondromatosis (metcds)	NC_000012.12:g.112489092C>T	-
PTPN11	Q06124	p.Gln506Pro	rs397507548	missense variant	-	NC_000012.12:g.112489093A>C	-
PTPN11	Q06124	p.Ser506Ala	RCV000033542	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112489080T>G	ClinVar
PTPN11	Q06124	p.Ser506Ala	RCV000212898	missense variant	-	NC_000012.12:g.112489080T>G	ClinVar
PTPN11	Q06124	p.Ser506Thr	RCV000014260	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489080T>A	ClinVar
PTPN11	Q06124	p.Gln506Arg	VAR_027195	Missense	Noonan syndrome 1 (NS1) [MIM:163950]	-	UniProt
PTPN11	Q06124	p.Gly507Arg	RCV000824750	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489083G>C	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000157015	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489083G>A	ClinVar
PTPN11	Q06124	p.Gly507Val	RCV000440091	missense variant	Adenocarcinoma of stomach	NC_000012.12:g.112489084G>T	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000210040	missense variant	-	NC_000012.12:g.112489083G>C	ClinVar
PTPN11	Q06124	p.Gly507Glu	RCV000033548	missense variant	-	NC_000012.12:g.112489084G>A	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000033546	missense variant	Rasopathy	NC_000012.12:g.112489083G>A	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000515165	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112489083G>C	ClinVar
PTPN11	Q06124	p.Gly507Val	RCV000430281	missense variant	Lung adenocarcinoma	NC_000012.12:g.112489084G>T	ClinVar
PTPN11	Q06124	p.Gly507Val	RCV000429259	missense variant	Multiple myeloma (MM)	NC_000012.12:g.112489084G>T	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000618529	missense variant	-	NC_000012.12:g.112489083G>A	ClinVar
PTPN11	Q06124	p.Gly507Val	RCV000439943	missense variant	Neoplasm of the large intestine	NC_000012.12:g.112489084G>T	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000156971	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489083G>C	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000660241	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489083G>A	ClinVar
PTPN11	Q06124	p.Gly507Ala	RCV000149849	missense variant	Rasopathy	NC_000012.12:g.112489084G>C	ClinVar
PTPN11	Q06124	p.Thr507Lys	rs886039463	missense variant	-	NC_000012.12:g.112489096C>A	-
PTPN11	Q06124	p.Gly507Arg	RCV000033545	missense variant	Rasopathy	NC_000012.12:g.112489083G>C	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000077852	missense variant	-	NC_000012.12:g.112489083G>A	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000824749	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112489083G>A	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000762886	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489083G>A	ClinVar
PTPN11	Q06124	p.Gly507Val	RCV000419381	missense variant	Squamous cell lung carcinoma	NC_000012.12:g.112489084G>T	ClinVar
PTPN11	Q06124	p.Gly507Arg	RCV000692146	missense variant	Rasopathy	NC_000012.12:g.112489082_112489083delinsCC	ClinVar
PTPN11	Q06124	p.Met508Val	RCV000677652	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489086A>G	ClinVar
PTPN11	Q06124	p.Gln510Pro	rs121918470	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112489105A>C	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gln510Ter	RCV000024258	nonsense	Metachondromatosis (METCDS)	NC_000012.12:g.112489092C>T	ClinVar
PTPN11	Q06124	p.Gln510Pro	RCV000055887	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489093A>C	ClinVar
PTPN11	Q06124	p.Gln510Arg	rs121918470	missense variant	-	NC_000012.12:g.112489105A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gln510His	COSM1948766	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112489106G>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Gln510Leu	COSM1318059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112489105A>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Gln510Pro	RCV000154371	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489093A>C	ClinVar
PTPN11	Q06124	p.Gln510Pro	RCV000033550	missense variant	Rasopathy	NC_000012.12:g.112489093A>C	ClinVar
PTPN11	Q06124	p.Gln510Pro	rs121918470	missense variant	-	NC_000012.12:g.112489105A>C	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gln510His	rs397507550	missense variant	-	NC_000012.12:g.112489106G>C	TOPMed,gnomAD
PTPN11	Q06124	p.Gln510Arg	rs121918470	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112489105A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gln510Pro	rs121918470	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489105A>C	UniProt,dbSNP
PTPN11	Q06124	p.Gln510Pro	VAR_027196	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489105A>C	UniProt
PTPN11	Q06124	p.Gln510Pro	rs121918470	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112489105A>C	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Gln510Glu	rs397507549	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489104C>G	UniProt,dbSNP
PTPN11	Q06124	p.Gln510Glu	VAR_076499	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489104C>G	UniProt
PTPN11	Q06124	p.Gln510Glu	rs397507549	missense variant	-	NC_000012.12:g.112489104C>G	-
PTPN11	Q06124	p.Gln510Pro	RCV000049230	missense variant	Rasopathy	NC_000012.12:g.112489093_112489094delinsCC	ClinVar
PTPN11	Q06124	p.Gln510Pro	RCV000157683	missense variant	-	NC_000012.12:g.112489093A>C	ClinVar
PTPN11	Q06124	p.Thr511Lys	RCV000255951	missense variant	-	NC_000012.12:g.112489096C>A	ClinVar
PTPN11	Q06124	p.Arg512Gln	COSM1358901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112489111G>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Gln514Glu	RCV000589512	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112489104C>G	ClinVar
PTPN11	Q06124	p.Gln514Glu	RCV000679882	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489104C>G	ClinVar
PTPN11	Q06124	p.Gln514Glu	RCV000210041	missense variant	-	NC_000012.12:g.112489104C>G	ClinVar
PTPN11	Q06124	p.Gln514His	RCV000077854	missense variant	-	NC_000012.12:g.112489106G>C	ClinVar
PTPN11	Q06124	p.Gln514Glu	RCV000619738	missense variant	-	NC_000012.12:g.112489104C>G	ClinVar
PTPN11	Q06124	p.Gln514Pro	RCV000033554	missense variant	Rasopathy	NC_000012.12:g.112489105A>C	ClinVar
PTPN11	Q06124	p.Gln514Glu	RCV000033553	missense variant	Rasopathy	NC_000012.12:g.112489104C>G	ClinVar
PTPN11	Q06124	p.Gln514Pro	RCV000824752	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489105A>C	ClinVar
PTPN11	Q06124	p.Gln514Pro	RCV000586289	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112489105A>C	ClinVar
PTPN11	Q06124	p.Gln514Pro	RCV000210036	missense variant	-	NC_000012.12:g.112489105A>C	ClinVar
PTPN11	Q06124	p.Gln514Arg	RCV000014273	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489105A>G	ClinVar
PTPN11	Q06124	p.Gln514Pro	RCV000520822	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489105A>C	ClinVar
PTPN11	Q06124	p.Gln514Glu	RCV000055888	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489104C>G	ClinVar
PTPN11	Q06124	p.Gln514Glu	RCV000824751	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489104C>G	ClinVar
PTPN11	Q06124	p.Gln514Arg	RCV000414743	missense variant	-	NC_000012.12:g.112489105A>G	ClinVar
PTPN11	Q06124	p.Gln514Pro	RCV000014272	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489105A>C	ClinVar
PTPN11	Q06124	p.Met516Val	rs773825880	missense variant	-	NC_000012.12:g.112489122A>G	ExAC
PTPN11	Q06124	p.Met516Thr	rs994514579	missense variant	-	NC_000012.12:g.112489123T>C	gnomAD
PTPN11	Q06124	p.Val518Phe	rs1488010874	missense variant	-	NC_000012.12:g.112489128G>T	TOPMed
PTPN11	Q06124	p.Ile522Val	rs1365861378	missense variant	-	NC_000012.12:g.112489140A>G	gnomAD
PTPN11	Q06124	p.Glu523Gly	rs1389060443	missense variant	-	NC_000012.12:g.112489144A>G	gnomAD
PTPN11	Q06124	p.Gln526His	rs777116808	missense variant	-	NC_000012.12:g.112489154G>C	ExAC,gnomAD
PTPN11	Q06124	p.Gln526His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112489154G>T	NCI-TCGA
PTPN11	Q06124	p.Arg527His	rs770363146	missense variant	-	NC_000012.12:g.112489156G>A	ExAC,gnomAD
PTPN11	Q06124	p.Arg527Cys	rs191525506	missense variant	-	NC_000012.12:g.112489155C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Glu527Asp	RCV000681078	missense variant	-	NC_000012.12:g.112489145A>C	ClinVar
PTPN11	Q06124	p.Arg531Cys	RCV000577961	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489155C>T	ClinVar
PTPN11	Q06124	p.Arg531Cys	RCV000578039	missense variant	Metachondromatosis (METCDS)	NC_000012.12:g.112489155C>T	ClinVar
PTPN11	Q06124	p.Arg531Cys	RCV000578115	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489155C>T	ClinVar
PTPN11	Q06124	p.Glu532Lys	rs587778634	missense variant	-	NC_000012.12:g.112489170G>A	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Glu536Lys	RCV000121910	missense variant	-	NC_000012.12:g.112489170G>A	ClinVar
PTPN11	Q06124	p.Arg537Lys	rs1415569303	missense variant	-	NC_000012.12:g.112502154G>A	gnomAD
PTPN11	Q06124	p.Gly539Trp	rs994138881	missense variant	-	NC_000012.12:g.112502159G>T	TOPMed
PTPN11	Q06124	p.Gly539Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112502159G>C	NCI-TCGA
PTPN11	Q06124	p.Glu541Asp	COSM4038885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502167A>C	NCI-TCGA Cosmic
PTPN11	Q06124	p.Glu541Lys	rs186919241	missense variant	-	NC_000012.12:g.112502165G>A	1000Genomes,ExAC
PTPN11	Q06124	p.Glu541Lys	rs186919241	missense variant	-	NC_000012.12:g.112502165G>A	NCI-TCGA,NCI-TCGA Cosmic
PTPN11	Q06124	p.Glu541Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112502165G>C	NCI-TCGA
PTPN11	Q06124	p.Glu541Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112502166A>T	NCI-TCGA
PTPN11	Q06124	p.Thr543Ile	rs1057520397	missense variant	-	NC_000012.12:g.112502172C>T	-
PTPN11	Q06124	p.Asn544Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112502175A>C	NCI-TCGA
PTPN11	Q06124	p.Ile545Leu	COSM1318057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502177A>C	NCI-TCGA Cosmic
PTPN11	Q06124	p.Thr547Ile	RCV000424480	missense variant	-	NC_000012.12:g.112502172C>T	ClinVar
PTPN11	Q06124	p.Ser548Pro	rs1057517907	missense variant	-	NC_000012.12:g.112502186T>C	TOPMed,gnomAD
PTPN11	Q06124	p.Ser548Cys	rs759551230	missense variant	-	NC_000012.12:g.112502187C>G	ExAC,gnomAD
PTPN11	Q06124	p.Ala550Val	rs767712281	missense variant	-	NC_000012.12:g.112502193C>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Asp551Asn	COSM6071395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502195G>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Ser552Pro	RCV000413414	missense variant	-	NC_000012.12:g.112502186T>C	ClinVar
PTPN11	Q06124	p.Thr553Lys	rs148176616	missense variant	-	NC_000012.12:g.112502202C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Thr553Met	rs148176616	missense variant	-	NC_000012.12:g.112502202C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Ser554Asn	rs1555271397	missense variant	-	NC_000012.12:g.112502205G>A	-
PTPN11	Q06124	p.Ala554Val	RCV000271291	missense variant	-	NC_000012.12:g.112502193C>T	ClinVar
PTPN11	Q06124	p.Gly555Glu	COSM935285	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502208G>A	NCI-TCGA Cosmic
PTPN11	Q06124	p.Thr557Met	RCV000156990	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112502202C>T	ClinVar
PTPN11	Q06124	p.Gln557Arg	rs763926088	missense variant	-	NC_000012.12:g.112502214A>G	ExAC,gnomAD
PTPN11	Q06124	p.Gln557Lys	rs1024227490	missense variant	-	NC_000012.12:g.112502213C>A	gnomAD
PTPN11	Q06124	p.Gln557His	rs753741561	missense variant	-	NC_000012.12:g.112502215G>C	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Ser558Asn	RCV000658375	missense variant	-	NC_000012.12:g.112502205G>A	ClinVar
PTPN11	Q06124	p.Pro559Arg	rs1253971623	missense variant	-	NC_000012.12:g.112502220C>G	TOPMed
PTPN11	Q06124	p.Pro559Ser	rs1060502526	missense variant	-	NC_000012.12:g.112502219C>T	-
PTPN11	Q06124	p.Leu560Phe	rs397516797	missense variant	-	NC_000012.12:g.112502222C>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Leu560Phe	rs397516797	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112502222C>T	UniProt,dbSNP
PTPN11	Q06124	p.Leu560Phe	VAR_027197	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112502222C>T	UniProt
PTPN11	Q06124	p.Pro561Leu	rs141140214	missense variant	-	NC_000012.12:g.112502226C>T	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Cys563Phe	COSM3456266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502232G>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Pro563Arg	RCV000700110	missense variant	Rasopathy	NC_000012.12:g.112502220C>G	ClinVar
PTPN11	Q06124	p.Cys563Tyr	rs1238697234	missense variant	-	NC_000012.12:g.112502232G>A	gnomAD
PTPN11	Q06124	p.Pro563Ser	RCV000467826	missense variant	Rasopathy	NC_000012.12:g.112502219C>T	ClinVar
PTPN11	Q06124	p.Thr564Ser	rs779810329	missense variant	-	NC_000012.12:g.112502234A>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Leu564Phe	RCV000159057	missense variant	Rasopathy	NC_000012.12:g.112502222C>T	ClinVar
PTPN11	Q06124	p.Pro565Leu	RCV000515184	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112502226C>T	ClinVar
PTPN11	Q06124	p.Pro565Leu	RCV000690056	missense variant	Rasopathy	NC_000012.12:g.112502226C>T	ClinVar
PTPN11	Q06124	p.Pro565Gln	rs1315318035	missense variant	-	NC_000012.12:g.112502238C>A	TOPMed
PTPN11	Q06124	p.Thr566Ala	rs746712068	missense variant	-	NC_000012.12:g.112502240A>G	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Thr566Ser	rs746712068	missense variant	-	NC_000012.12:g.112502240A>T	ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Thr566Met	rs150730493	missense variant	-	NC_000012.12:g.112502241C>T	ESP,ExAC,TOPMed,gnomAD
PTPN11	Q06124	p.Cys569Arg	rs1420924484	missense variant	-	NC_000012.12:g.112502249T>C	gnomAD
PTPN11	Q06124	p.Thr570Met	RCV000033559	missense variant	-	NC_000012.12:g.112502241C>T	ClinVar
PTPN11	Q06124	p.Met572Thr	rs1415602777	missense variant	-	NC_000012.12:g.112504697T>C	TOPMed
PTPN11	Q06124	p.Asp575Gly	rs397516799	missense variant	-	NC_000012.12:g.112504706A>G	-
PTPN11	Q06124	p.Ser576Asn	rs781006724	missense variant	-	NC_000012.12:g.112504709G>A	ExAC
PTPN11	Q06124	p.Ser576Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112504709G>T	NCI-TCGA
PTPN11	Q06124	p.Ala577Thr	rs567223058	missense variant	-	NC_000012.12:g.112504711G>A	1000Genomes,ExAC,gnomAD
PTPN11	Q06124	p.Arg578Ile	rs757593532	missense variant	-	NC_000012.12:g.112504715G>T	ExAC
PTPN11	Q06124	p.Arg578Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.112504714A>T	NCI-TCGA
PTPN11	Q06124	p.Asp579Gly	RCV000037625	missense variant	-	NC_000012.12:g.112504706A>G	ClinVar
PTPN11	Q06124	p.Val579Ile	rs746410911	missense variant	-	NC_000012.12:g.112504717G>A	ExAC,gnomAD
PTPN11	Q06124	p.Val579Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.112504718T>G	NCI-TCGA
PTPN11	Q06124	p.Val583Met	rs963465148	missense variant	-	NC_000012.12:g.112504729G>A	TOPMed
PTPN11	Q06124	p.Gln588Arg	rs1283260430	missense variant	-	NC_000012.12:g.112504745A>G	TOPMed,gnomAD
PTPN11	Q06124	p.Gln588His	COSM263160	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112504746G>T	NCI-TCGA Cosmic
PTPN11	Q06124	p.Gln589Arg	rs768805690	missense variant	-	NC_000012.12:g.112504748A>G	ExAC,gnomAD
PTPN11	Q06124	p.Arg593Gly	rs1205297900	missense variant	-	NC_000012.12:g.112504759A>G	gnomAD
REG3A	Q06141	p.Leu2Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79159402G>C	NCI-TCGA
REG3A	Q06141	p.Leu2Pro	COSM6092576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159401A>G	NCI-TCGA Cosmic
REG3A	Q06141	p.Pro3Leu	rs565734557	missense variant	-	NC_000002.12:g.79159398G>A	1000Genomes,ExAC,gnomAD
REG3A	Q06141	p.Pro4Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79159396G>A	NCI-TCGA
REG3A	Q06141	p.Met5Val	rs1444246883	missense variant	-	NC_000002.12:g.79159393T>C	TOPMed
REG3A	Q06141	p.Met5Thr	rs775648232	missense variant	-	NC_000002.12:g.79159392A>G	ExAC,gnomAD
REG3A	Q06141	p.Ala6Val	rs147363673	missense variant	-	NC_000002.12:g.79159389G>A	TOPMed
REG3A	Q06141	p.Ala6Asp	COSM6159115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159389G>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Leu7Met	COSM6033202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159387G>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Pro8Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79159383G>A	NCI-TCGA
REG3A	Q06141	p.Pro8Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79159384G>T	NCI-TCGA
REG3A	Q06141	p.Pro8His	rs936615714	missense variant	-	NC_000002.12:g.79159383G>T	TOPMed,gnomAD
REG3A	Q06141	p.Ser9ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.79159382G>-	NCI-TCGA
REG3A	Q06141	p.Val10Leu	rs1209152267	missense variant	-	NC_000002.12:g.79159378C>A	gnomAD
REG3A	Q06141	p.Ser11Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79159374G>T	NCI-TCGA
REG3A	Q06141	p.Ser11Thr	rs779530381	missense variant	-	NC_000002.12:g.79159375A>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser11Phe	rs547113093	missense variant	-	NC_000002.12:g.79159374G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser11Pro	rs779530381	missense variant	-	NC_000002.12:g.79159375A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Trp12Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.79159370C>T	NCI-TCGA
REG3A	Q06141	p.Met13Ile	rs1339210084	missense variant	-	NC_000002.12:g.79159367C>T	gnomAD
REG3A	Q06141	p.Met13Val	rs533239357	missense variant	-	NC_000002.12:g.79159369T>C	1000Genomes
REG3A	Q06141	p.Leu14Pro	rs780244740	missense variant	-	NC_000002.12:g.79159365A>G	ExAC,gnomAD
REG3A	Q06141	p.Leu15Ile	rs756356041	missense variant	-	NC_000002.12:g.79159363G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Leu15Phe	rs756356041	missense variant	-	NC_000002.12:g.79159363G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser16Phe	rs1370503388	missense variant	-	NC_000002.12:g.79159359G>A	TOPMed
REG3A	Q06141	p.Met19Leu	rs1380521422	missense variant	-	NC_000002.12:g.79159351T>G	gnomAD
REG3A	Q06141	p.Leu20Gln	rs1302690830	missense variant	-	NC_000002.12:g.79159347A>T	TOPMed,gnomAD
REG3A	Q06141	p.Ser22Cys	rs142625281	missense variant	-	NC_000002.12:g.79159341G>C	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln23Glu	rs372505618	missense variant	-	NC_000002.12:g.79159339G>C	ESP,gnomAD
REG3A	Q06141	p.Gln23Arg	rs1158606988	missense variant	-	NC_000002.12:g.79159338T>C	gnomAD
REG3A	Q06141	p.Gln23Ter	rs372505618	stop gained	-	NC_000002.12:g.79159339G>A	ESP,gnomAD
REG3A	Q06141	p.Gln23Leu	COSM6159117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159338T>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Gln23His	rs115863131	missense variant	-	NC_000002.12:g.79159337C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Val24Phe	COSM4095898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79159336C>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Gln25His	rs767560114	missense variant	-	NC_000002.12:g.79159331T>G	TOPMed,gnomAD
REG3A	Q06141	p.Gly26Ser	rs544174610	missense variant	-	NC_000002.12:g.79159330C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Glu27GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.79158753_79158766CCTCTGGGGTTCTT>-	NCI-TCGA
REG3A	Q06141	p.Glu27Lys	rs1488498588	missense variant	-	NC_000002.12:g.79158767C>T	gnomAD
REG3A	Q06141	p.Glu28Gln	rs775928429	missense variant	-	NC_000002.12:g.79158764C>G	ExAC,gnomAD
REG3A	Q06141	p.Glu28Ter	rs775928429	stop gained	-	NC_000002.12:g.79158764C>A	ExAC,gnomAD
REG3A	Q06141	p.Pro29Thr	rs558734956	missense variant	-	NC_000002.12:g.79158761G>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro29Leu	rs374191223	missense variant	-	NC_000002.12:g.79158760G>A	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro29Ser	COSM3583546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158761G>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Gln30His	rs781494401	missense variant	-	NC_000002.12:g.79158756C>A	ExAC,gnomAD
REG3A	Q06141	p.Gln30Glu	COSM722336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158758G>C	NCI-TCGA Cosmic
REG3A	Q06141	p.Arg31Lys	rs757491659	missense variant	-	NC_000002.12:g.79158754C>T	ExAC,gnomAD
REG3A	Q06141	p.Arg31Ser	rs747243184	missense variant	-	NC_000002.12:g.79158753C>A	ExAC,TOPMed
REG3A	Q06141	p.Glu32Lys	rs1334210991	missense variant	-	NC_000002.12:g.79158752C>T	gnomAD
REG3A	Q06141	p.Pro34Arg	COSM722337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158745G>C	NCI-TCGA Cosmic
REG3A	Q06141	p.Ser35Phe	rs778024360	missense variant	-	NC_000002.12:g.79158742G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala36Pro	rs879246680	missense variant	-	NC_000002.12:g.79158740C>G	gnomAD
REG3A	Q06141	p.Ala36Gly	rs758470629	missense variant	-	NC_000002.12:g.79158739G>C	ExAC,gnomAD
REG3A	Q06141	p.Ala36Thr	rs879246680	missense variant	-	NC_000002.12:g.79158740C>T	gnomAD
REG3A	Q06141	p.Arg37Gly	rs538408283	missense variant	-	NC_000002.12:g.79158737G>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg37Trp	rs538408283	missense variant	-	NC_000002.12:g.79158737G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg37Leu	rs138199548	missense variant	-	NC_000002.12:g.79158736C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg37Gln	rs138199548	missense variant	-	NC_000002.12:g.79158736C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile38Asn	rs190379872	missense variant	-	NC_000002.12:g.79158733A>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile38Ser	rs190379872	missense variant	-	NC_000002.12:g.79158733A>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg39His	rs139201953	missense variant	-	NC_000002.12:g.79158730C>T	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg39Ser	rs141740162	missense variant	-	NC_000002.12:g.79158731G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg39Cys	rs141740162	missense variant	-	NC_000002.12:g.79158731G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Cys40Phe	COSM722338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158727C>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Pro41Leu	rs762429049	missense variant	-	NC_000002.12:g.79158724G>A	ExAC,gnomAD
REG3A	Q06141	p.Lys42Glu	rs1322129314	missense variant	-	NC_000002.12:g.79158722T>C	TOPMed
REG3A	Q06141	p.Gly43Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158719C>A	NCI-TCGA
REG3A	Q06141	p.Gly43Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158718C>A	NCI-TCGA
REG3A	Q06141	p.Gly43Ala	rs1446622924	missense variant	-	NC_000002.12:g.79158718C>G	TOPMed
REG3A	Q06141	p.Gly43Ser	rs774925348	missense variant	-	NC_000002.12:g.79158719C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser44Phe	rs1451859704	missense variant	-	NC_000002.12:g.79158715G>A	TOPMed,gnomAD
REG3A	Q06141	p.Ser44Thr	rs770292081	missense variant	-	NC_000002.12:g.79158716A>T	ExAC,gnomAD
REG3A	Q06141	p.Ser44Cys	rs1451859704	missense variant	-	NC_000002.12:g.79158715G>C	TOPMed,gnomAD
REG3A	Q06141	p.Lys45Met	rs1230408336	missense variant	-	NC_000002.12:g.79158712T>A	TOPMed
REG3A	Q06141	p.Lys45Asn	COSM722339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158711C>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Ala46Thr	rs771324295	missense variant	-	NC_000002.12:g.79158710C>T	ExAC,gnomAD
REG3A	Q06141	p.Ala46Val	rs1294222630	missense variant	-	NC_000002.12:g.79158709G>A	TOPMed
REG3A	Q06141	p.Ala46Asp	COSM6159118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158709G>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Gly48Val	rs960792179	missense variant	-	NC_000002.12:g.79158703C>A	-
REG3A	Q06141	p.Gly48Arg	rs1328904894	missense variant	-	NC_000002.12:g.79158704C>G	TOPMed
REG3A	Q06141	p.Ser49Phe	rs1226859955	missense variant	-	NC_000002.12:g.79158700G>A	TOPMed
REG3A	Q06141	p.His50Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158698G>A	NCI-TCGA
REG3A	Q06141	p.His50Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158696G>T	NCI-TCGA
REG3A	Q06141	p.His50Pro	rs201139260	missense variant	-	NC_000002.12:g.79158697T>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.His50Asp	rs747395684	missense variant	-	NC_000002.12:g.79158698G>C	ExAC,gnomAD
REG3A	Q06141	p.His50Asn	COSM267955	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158698G>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Cys51Arg	rs772275781	missense variant	-	NC_000002.12:g.79158695A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Cys51Ser	rs772275781	missense variant	-	NC_000002.12:g.79158695A>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Leu54Phe	rs1281522343	missense variant	-	NC_000002.12:g.79158684C>G	gnomAD
REG3A	Q06141	p.Leu54Phe	rs1281522343	missense variant	-	NC_000002.12:g.79158684C>A	gnomAD
REG3A	Q06141	p.Leu54Met	rs1330740608	missense variant	-	NC_000002.12:g.79158686A>T	gnomAD
REG3A	Q06141	p.Phe55Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158682A>T	NCI-TCGA
REG3A	Q06141	p.Phe55Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158683A>G	NCI-TCGA
REG3A	Q06141	p.Phe55Leu	rs1342300516	missense variant	-	NC_000002.12:g.79158681A>C	gnomAD
REG3A	Q06141	p.Phe55Ile	rs748177286	missense variant	-	NC_000002.12:g.79158683A>T	ExAC,gnomAD
REG3A	Q06141	p.Lys59Asn	rs1399918229	missense variant	-	NC_000002.12:g.79158669T>A	gnomAD
REG3A	Q06141	p.Ser60Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158667G>T	NCI-TCGA
REG3A	Q06141	p.Ser60Phe	rs779093650	missense variant	-	NC_000002.12:g.79158667G>A	ExAC,gnomAD
REG3A	Q06141	p.Trp61Ter	rs961991836	stop gained	-	NC_000002.12:g.79158663C>T	TOPMed
REG3A	Q06141	p.Thr62Ile	rs77686105	missense variant	-	NC_000002.12:g.79158661G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Asp63Tyr	rs185222126	missense variant	-	NC_000002.12:g.79158659C>A	1000Genomes
REG3A	Q06141	p.Ala64Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158656C>G	NCI-TCGA
REG3A	Q06141	p.Ala64Val	COSM6092578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158655G>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Asp65Glu	rs10169162	missense variant	-	NC_000002.12:g.79158651A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Asp65Asn	rs781248357	missense variant	-	NC_000002.12:g.79158653C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala67Thr	rs1444540912	missense variant	-	NC_000002.12:g.79158460C>T	TOPMed,gnomAD
REG3A	Q06141	p.Cys68Arg	rs1191683456	missense variant	-	NC_000002.12:g.79158457A>G	TOPMed,gnomAD
REG3A	Q06141	p.Cys68Ser	rs1191683456	missense variant	-	NC_000002.12:g.79158457A>T	TOPMed,gnomAD
REG3A	Q06141	p.Gln69ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.79158454G>-	NCI-TCGA
REG3A	Q06141	p.Gln69Arg	COSM722341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158453T>C	NCI-TCGA Cosmic
REG3A	Q06141	p.Arg71Trp	rs538840781	missense variant	-	NC_000002.12:g.79158448G>A	ExAC,gnomAD
REG3A	Q06141	p.Arg71Gln	rs372677110	missense variant	-	NC_000002.12:g.79158447C>T	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg71Leu	rs372677110	missense variant	-	NC_000002.12:g.79158447C>A	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro72Ser	rs1202559849	missense variant	-	NC_000002.12:g.79158445G>A	gnomAD
REG3A	Q06141	p.Pro72His	COSM722342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158444G>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Ser73Phe	rs918038567	missense variant	-	NC_000002.12:g.79158441G>A	TOPMed
REG3A	Q06141	p.Gly74Glu	rs865897000	missense variant	-	NC_000002.12:g.79158438C>T	gnomAD
REG3A	Q06141	p.Asn75Lys	rs778546234	missense variant	-	NC_000002.12:g.79158434G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser78Pro	rs754554463	missense variant	-	NC_000002.12:g.79158427A>G	ExAC,gnomAD
REG3A	Q06141	p.Leu80Phe	rs765861996	missense variant	-	NC_000002.12:g.79158421G>A	ExAC,gnomAD
REG3A	Q06141	p.Leu80Ile	rs765861996	missense variant	-	NC_000002.12:g.79158421G>T	ExAC,gnomAD
REG3A	Q06141	p.Leu80Arg	rs1278552938	missense variant	-	NC_000002.12:g.79158420A>C	gnomAD
REG3A	Q06141	p.Ser81Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158417C>A	NCI-TCGA
REG3A	Q06141	p.Ser81Arg	rs755559938	missense variant	-	NC_000002.12:g.79158416A>C	ExAC,gnomAD
REG3A	Q06141	p.Gly82Val	rs190335034	missense variant	-	NC_000002.12:g.79158414C>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly82Glu	rs190335034	missense variant	-	NC_000002.12:g.79158414C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly82Trp	COSM6159121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158415C>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Ala83Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158412C>G	NCI-TCGA
REG3A	Q06141	p.Ala83Ser	rs746972535	missense variant	-	NC_000002.12:g.79158412C>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly85Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158405C>T	NCI-TCGA
REG3A	Q06141	p.Gly85Ter	COSM722345	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.79158406C>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Gly85Arg	COSM6092579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158406C>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Val88Met	rs764419758	missense variant	-	NC_000002.12:g.79158397C>T	ExAC,gnomAD
REG3A	Q06141	p.Ser89Pro	rs1175749117	missense variant	-	NC_000002.12:g.79158394A>G	gnomAD
REG3A	Q06141	p.Ser90Phe	COSM5429617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158390G>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Leu91ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.79158387A>-	NCI-TCGA
REG3A	Q06141	p.Leu91Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158388G>T	NCI-TCGA
REG3A	Q06141	p.Lys93Arg	rs868611127	missense variant	-	NC_000002.12:g.79158381T>C	TOPMed,gnomAD
REG3A	Q06141	p.Ser94Asn	rs938253452	missense variant	-	NC_000002.12:g.79158378C>T	TOPMed
REG3A	Q06141	p.Ile95Val	rs775456518	missense variant	-	NC_000002.12:g.79158376T>C	ExAC,gnomAD
REG3A	Q06141	p.Gly96Ser	rs767916040	missense variant	-	NC_000002.12:g.79158373C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly96Ala	COSM6092580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158372C>G	NCI-TCGA Cosmic
REG3A	Q06141	p.Asn97Lys	COSM722346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158368G>C	NCI-TCGA Cosmic
REG3A	Q06141	p.Ser98Arg	rs745928990	missense variant	-	NC_000002.12:g.79158365G>C	ExAC,gnomAD
REG3A	Q06141	p.Tyr99His	rs773255584	missense variant	-	NC_000002.12:g.79158364A>G	ExAC
REG3A	Q06141	p.Tyr101His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158358A>G	NCI-TCGA
REG3A	Q06141	p.Tyr101Asn	rs771935417	missense variant	-	NC_000002.12:g.79158358A>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Val102Ile	rs199992892	missense variant	-	NC_000002.12:g.79158355C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile104Met	rs754646366	missense variant	-	NC_000002.12:g.79158347A>C	ExAC,gnomAD
REG3A	Q06141	p.Ile104Thr	rs141838256	missense variant	-	NC_000002.12:g.79158348A>G	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly105Glu	rs201022623	missense variant	-	NC_000002.12:g.79158345C>T	1000Genomes
REG3A	Q06141	p.Gly105Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158345C>A	NCI-TCGA
REG3A	Q06141	p.Leu106Phe	rs1403718609	missense variant	-	NC_000002.12:g.79158343G>A	gnomAD
REG3A	Q06141	p.His107Tyr	rs11554092	missense variant	-	NC_000002.12:g.79158340G>A	-
REG3A	Q06141	p.His107Asp	COSM5615131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158340G>C	NCI-TCGA Cosmic
REG3A	Q06141	p.Pro109Leu	rs779543410	missense variant	-	NC_000002.12:g.79158333G>A	ExAC,gnomAD
REG3A	Q06141	p.Pro109Ser	rs749016320	missense variant	-	NC_000002.12:g.79158334G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro109Arg	COSM6159122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158333G>C	NCI-TCGA Cosmic
REG3A	Q06141	p.Pro109Thr	COSM722348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158334G>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Thr110Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79158330G>T	NCI-TCGA
REG3A	Q06141	p.Gln111His	rs755718299	missense variant	-	NC_000002.12:g.79158326C>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln111Lys	COSM323025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79158328G>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Glu114Asp	rs921025329	missense variant	-	NC_000002.12:g.79157690C>A	TOPMed,gnomAD
REG3A	Q06141	p.Glu114Lys	rs372756064	missense variant	-	NC_000002.12:g.79157692C>T	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Asn116Ser	rs758852073	missense variant	-	NC_000002.12:g.79157685T>C	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly117Ala	rs752943154	missense variant	-	NC_000002.12:g.79157682C>G	ExAC,gnomAD
REG3A	Q06141	p.Gly117Glu	rs752943154	missense variant	-	NC_000002.12:g.79157682C>T	ExAC,gnomAD
REG3A	Q06141	p.Glu118Asp	rs962538834	missense variant	-	NC_000002.12:g.79157678T>A	TOPMed,gnomAD
REG3A	Q06141	p.Glu118Lys	COSM1532755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157680C>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Gly119Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157677C>A	NCI-TCGA
REG3A	Q06141	p.Trp120Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157673C>G	NCI-TCGA
REG3A	Q06141	p.Trp120Cys	COSM6159124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157672C>G	NCI-TCGA Cosmic
REG3A	Q06141	p.Ser123Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157663A>T	NCI-TCGA
REG3A	Q06141	p.Ser123Ile	rs1336451112	missense variant	-	NC_000002.12:g.79157664C>A	TOPMed,gnomAD
REG3A	Q06141	p.Ser124Asn	rs759637207	missense variant	-	NC_000002.12:g.79157661C>T	ExAC,gnomAD
REG3A	Q06141	p.Ser124Gly	rs1355287546	missense variant	-	NC_000002.12:g.79157662T>C	TOPMed
REG3A	Q06141	p.Ser124Ile	COSM576168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157661C>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Ser125Thr	rs1440276901	missense variant	-	NC_000002.12:g.79157658C>G	TOPMed
REG3A	Q06141	p.Ser125Ile	COSM6092213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157658C>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Asp126Gly	rs1176214554	missense variant	-	NC_000002.12:g.79157655T>C	gnomAD
REG3A	Q06141	p.Val127Met	rs753973300	missense variant	-	NC_000002.12:g.79157653C>T	ExAC,gnomAD
REG3A	Q06141	p.Val127Leu	COSM722350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157653C>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Met128Leu	rs1298833663	missense variant	-	NC_000002.12:g.79157650T>A	gnomAD
REG3A	Q06141	p.Met128Ile	COSM3910694	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157648C>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Asn129Thr	rs766492988	missense variant	-	NC_000002.12:g.79157646T>G	ExAC,gnomAD
REG3A	Q06141	p.Tyr130Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157643T>C	NCI-TCGA
REG3A	Q06141	p.Tyr130His	rs760712859	missense variant	-	NC_000002.12:g.79157644A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Phe131Leu	rs150496065	missense variant	-	NC_000002.12:g.79157641A>G	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Phe131Ser	rs768568662	missense variant	-	NC_000002.12:g.79157640A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Trp133Ter	rs1442404983	stop gained	-	NC_000002.12:g.79157633C>T	TOPMed,gnomAD
REG3A	Q06141	p.Trp133Arg	rs199733463	missense variant	-	NC_000002.12:g.79157635A>G	gnomAD
REG3A	Q06141	p.Trp133Leu	COSM576171	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157634C>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Glu134Lys	rs1239541266	missense variant	-	NC_000002.12:g.79157632C>T	gnomAD
REG3A	Q06141	p.Arg135Lys	COSM3910693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157628C>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Asn136Ser	rs199647531	missense variant	-	NC_000002.12:g.79157625T>C	1000Genomes
REG3A	Q06141	p.Asn136Tyr	COSM443258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157626T>A	NCI-TCGA Cosmic
REG3A	Q06141	p.Pro137Ser	rs200652760	missense variant	-	NC_000002.12:g.79157623G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro137Ala	rs200652760	missense variant	-	NC_000002.12:g.79157623G>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser138Tyr	COSM6158760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157619G>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Thr139Ala	rs780972303	missense variant	-	NC_000002.12:g.79157617T>C	ExAC,gnomAD
REG3A	Q06141	p.Ser141Leu	rs746501690	missense variant	-	NC_000002.12:g.79157610G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser141Ter	rs746501690	stop gained	-	NC_000002.12:g.79157610G>C	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser142Arg	rs758760547	missense variant	-	NC_000002.12:g.79157606G>T	ExAC,gnomAD
REG3A	Q06141	p.Ser142Arg	COSM6158761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157606G>C	NCI-TCGA Cosmic
REG3A	Q06141	p.Pro143Leu	rs201428369	missense variant	-	NC_000002.12:g.79157604G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro143Ser	rs753136032	missense variant	-	NC_000002.12:g.79157605G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly144Ser	rs199786695	missense variant	-	NC_000002.12:g.79157602C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.His145Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157597G>T	NCI-TCGA
REG3A	Q06141	p.His145Arg	rs1372971620	missense variant	-	NC_000002.12:g.79157598T>C	TOPMed
REG3A	Q06141	p.Cys146Trp	rs766585040	missense variant	-	NC_000002.12:g.79157594A>C	ExAC,gnomAD
REG3A	Q06141	p.Ala147Gly	rs146653158	missense variant	-	NC_000002.12:g.79157592G>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala147Val	rs146653158	missense variant	-	NC_000002.12:g.79157592G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser148Asn	rs762763582	missense variant	-	NC_000002.12:g.79157589C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser148Arg	rs775380448	missense variant	-	NC_000002.12:g.79157588G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Leu149Gln	rs1014018274	missense variant	-	NC_000002.12:g.79157586A>T	TOPMed
REG3A	Q06141	p.Ser150Leu	rs1048512257	missense variant	-	NC_000002.12:g.79157583G>A	gnomAD
REG3A	Q06141	p.Arg151Lys	COSM722351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157580C>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Ser152Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157577C>T	NCI-TCGA
REG3A	Q06141	p.Thr153Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157574G>T	NCI-TCGA
REG3A	Q06141	p.Leu156Arg	rs929798292	missense variant	-	NC_000002.12:g.79157287A>C	TOPMed
REG3A	Q06141	p.Arg157Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157283C>G	NCI-TCGA
REG3A	Q06141	p.Arg157Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157284C>A	NCI-TCGA
REG3A	Q06141	p.Trp158Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157280C>A	NCI-TCGA
REG3A	Q06141	p.Trp158Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.79157280C>G	NCI-TCGA
REG3A	Q06141	p.Trp158Ter	COSM3583541	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.79157281C>T	NCI-TCGA Cosmic
REG3A	Q06141	p.Asp160Tyr	rs926835992	missense variant	-	NC_000002.12:g.79157276C>A	-
REG3A	Q06141	p.Tyr161Cys	rs1382366550	missense variant	-	NC_000002.12:g.79157272T>C	gnomAD
REG3A	Q06141	p.Tyr161His	rs544569659	missense variant	-	NC_000002.12:g.79157273A>G	1000Genomes,ExAC,gnomAD
REG3A	Q06141	p.Val165Leu	rs1469966482	missense variant	-	NC_000002.12:g.79157261C>A	gnomAD
REG3A	Q06141	p.Arg166Trp	rs199719324	missense variant	-	NC_000002.12:g.79157258T>A	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg166Thr	COSM443257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.79157257C>G	NCI-TCGA Cosmic
REG3A	Q06141	p.Tyr169Cys	rs760354285	missense variant	-	NC_000002.12:g.79157248T>C	ExAC,gnomAD
REG3A	Q06141	p.Cys171Trp	rs747687128	missense variant	-	NC_000002.12:g.79157241G>C	ExAC,gnomAD
REG3A	Q06141	p.Thr174Ile	rs145613581	missense variant	-	NC_000002.12:g.79157233G>A	ESP,ExAC,TOPMed
REG3A	Q06141	p.Pro3Leu	rs565734557	missense variant	-	NC_000002.12:g.79159398G>A	1000Genomes,ExAC,gnomAD
REG3A	Q06141	p.Met5Val	rs1444246883	missense variant	-	NC_000002.12:g.79159393T>C	TOPMed
REG3A	Q06141	p.Met5Thr	rs775648232	missense variant	-	NC_000002.12:g.79159392A>G	ExAC,gnomAD
REG3A	Q06141	p.Ala6Val	rs147363673	missense variant	-	NC_000002.12:g.79159389G>A	TOPMed
REG3A	Q06141	p.Pro8His	rs936615714	missense variant	-	NC_000002.12:g.79159383G>T	TOPMed,gnomAD
REG3A	Q06141	p.Val10Leu	rs1209152267	missense variant	-	NC_000002.12:g.79159378C>A	gnomAD
REG3A	Q06141	p.Ser11Thr	rs779530381	missense variant	-	NC_000002.12:g.79159375A>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser11Pro	rs779530381	missense variant	-	NC_000002.12:g.79159375A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser11Phe	rs547113093	missense variant	-	NC_000002.12:g.79159374G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Met13Ile	rs1339210084	missense variant	-	NC_000002.12:g.79159367C>T	gnomAD
REG3A	Q06141	p.Met13Val	rs533239357	missense variant	-	NC_000002.12:g.79159369T>C	1000Genomes
REG3A	Q06141	p.Leu14Pro	rs780244740	missense variant	-	NC_000002.12:g.79159365A>G	ExAC,gnomAD
REG3A	Q06141	p.Leu15Ile	rs756356041	missense variant	-	NC_000002.12:g.79159363G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Leu15Phe	rs756356041	missense variant	-	NC_000002.12:g.79159363G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser16Phe	rs1370503388	missense variant	-	NC_000002.12:g.79159359G>A	TOPMed
REG3A	Q06141	p.Met19Leu	rs1380521422	missense variant	-	NC_000002.12:g.79159351T>G	gnomAD
REG3A	Q06141	p.Leu20Gln	rs1302690830	missense variant	-	NC_000002.12:g.79159347A>T	TOPMed,gnomAD
REG3A	Q06141	p.Ser22Cys	rs142625281	missense variant	-	NC_000002.12:g.79159341G>C	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln23Glu	rs372505618	missense variant	-	NC_000002.12:g.79159339G>C	ESP,gnomAD
REG3A	Q06141	p.Gln23Ter	rs372505618	stop gained	-	NC_000002.12:g.79159339G>A	ESP,gnomAD
REG3A	Q06141	p.Gln23Arg	rs1158606988	missense variant	-	NC_000002.12:g.79159338T>C	gnomAD
REG3A	Q06141	p.Gln23His	rs115863131	missense variant	-	NC_000002.12:g.79159337C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln25His	rs767560114	missense variant	-	NC_000002.12:g.79159331T>G	TOPMed,gnomAD
REG3A	Q06141	p.Gly26Ser	rs544174610	missense variant	-	NC_000002.12:g.79159330C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Glu27Lys	rs1488498588	missense variant	-	NC_000002.12:g.79158767C>T	gnomAD
REG3A	Q06141	p.Glu28Gln	rs775928429	missense variant	-	NC_000002.12:g.79158764C>G	ExAC,gnomAD
REG3A	Q06141	p.Glu28Ter	rs775928429	stop gained	-	NC_000002.12:g.79158764C>A	ExAC,gnomAD
REG3A	Q06141	p.Pro29Thr	rs558734956	missense variant	-	NC_000002.12:g.79158761G>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro29Leu	rs374191223	missense variant	-	NC_000002.12:g.79158760G>A	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln30His	rs781494401	missense variant	-	NC_000002.12:g.79158756C>A	ExAC,gnomAD
REG3A	Q06141	p.Arg31Lys	rs757491659	missense variant	-	NC_000002.12:g.79158754C>T	ExAC,gnomAD
REG3A	Q06141	p.Arg31Ser	rs747243184	missense variant	-	NC_000002.12:g.79158753C>A	ExAC,TOPMed
REG3A	Q06141	p.Glu32Lys	rs1334210991	missense variant	-	NC_000002.12:g.79158752C>T	gnomAD
REG3A	Q06141	p.Ser35Phe	rs778024360	missense variant	-	NC_000002.12:g.79158742G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala36Pro	rs879246680	missense variant	-	NC_000002.12:g.79158740C>G	gnomAD
REG3A	Q06141	p.Ala36Thr	rs879246680	missense variant	-	NC_000002.12:g.79158740C>T	gnomAD
REG3A	Q06141	p.Ala36Gly	rs758470629	missense variant	-	NC_000002.12:g.79158739G>C	ExAC,gnomAD
REG3A	Q06141	p.Arg37Gly	rs538408283	missense variant	-	NC_000002.12:g.79158737G>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg37Leu	rs138199548	missense variant	-	NC_000002.12:g.79158736C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg37Trp	rs538408283	missense variant	-	NC_000002.12:g.79158737G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg37Gln	rs138199548	missense variant	-	NC_000002.12:g.79158736C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile38Asn	rs190379872	missense variant	-	NC_000002.12:g.79158733A>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile38Ser	rs190379872	missense variant	-	NC_000002.12:g.79158733A>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg39Cys	rs141740162	missense variant	-	NC_000002.12:g.79158731G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg39Ser	rs141740162	missense variant	-	NC_000002.12:g.79158731G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg39His	rs139201953	missense variant	-	NC_000002.12:g.79158730C>T	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro41Leu	rs762429049	missense variant	-	NC_000002.12:g.79158724G>A	ExAC,gnomAD
REG3A	Q06141	p.Lys42Glu	rs1322129314	missense variant	-	NC_000002.12:g.79158722T>C	TOPMed
REG3A	Q06141	p.Gly43Ala	rs1446622924	missense variant	-	NC_000002.12:g.79158718C>G	TOPMed
REG3A	Q06141	p.Gly43Ser	rs774925348	missense variant	-	NC_000002.12:g.79158719C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser44Cys	rs1451859704	missense variant	-	NC_000002.12:g.79158715G>C	TOPMed,gnomAD
REG3A	Q06141	p.Ser44Phe	rs1451859704	missense variant	-	NC_000002.12:g.79158715G>A	TOPMed,gnomAD
REG3A	Q06141	p.Ser44Thr	rs770292081	missense variant	-	NC_000002.12:g.79158716A>T	ExAC,gnomAD
REG3A	Q06141	p.Lys45Met	rs1230408336	missense variant	-	NC_000002.12:g.79158712T>A	TOPMed
REG3A	Q06141	p.Ala46Thr	rs771324295	missense variant	-	NC_000002.12:g.79158710C>T	ExAC,gnomAD
REG3A	Q06141	p.Ala46Val	rs1294222630	missense variant	-	NC_000002.12:g.79158709G>A	TOPMed
REG3A	Q06141	p.Gly48Val	rs960792179	missense variant	-	NC_000002.12:g.79158703C>A	-
REG3A	Q06141	p.Gly48Arg	rs1328904894	missense variant	-	NC_000002.12:g.79158704C>G	TOPMed
REG3A	Q06141	p.Ser49Phe	rs1226859955	missense variant	-	NC_000002.12:g.79158700G>A	TOPMed
REG3A	Q06141	p.His50Asp	rs747395684	missense variant	-	NC_000002.12:g.79158698G>C	ExAC,gnomAD
REG3A	Q06141	p.His50Pro	rs201139260	missense variant	-	NC_000002.12:g.79158697T>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Cys51Arg	rs772275781	missense variant	-	NC_000002.12:g.79158695A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Cys51Ser	rs772275781	missense variant	-	NC_000002.12:g.79158695A>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Leu54Phe	rs1281522343	missense variant	-	NC_000002.12:g.79158684C>G	gnomAD
REG3A	Q06141	p.Leu54Phe	rs1281522343	missense variant	-	NC_000002.12:g.79158684C>A	gnomAD
REG3A	Q06141	p.Leu54Met	rs1330740608	missense variant	-	NC_000002.12:g.79158686A>T	gnomAD
REG3A	Q06141	p.Phe55Leu	rs1342300516	missense variant	-	NC_000002.12:g.79158681A>C	gnomAD
REG3A	Q06141	p.Phe55Ile	rs748177286	missense variant	-	NC_000002.12:g.79158683A>T	ExAC,gnomAD
REG3A	Q06141	p.Lys59Asn	rs1399918229	missense variant	-	NC_000002.12:g.79158669T>A	gnomAD
REG3A	Q06141	p.Ser60Phe	rs779093650	missense variant	-	NC_000002.12:g.79158667G>A	ExAC,gnomAD
REG3A	Q06141	p.Trp61Ter	rs961991836	stop gained	-	NC_000002.12:g.79158663C>T	TOPMed
REG3A	Q06141	p.Thr62Ile	rs77686105	missense variant	-	NC_000002.12:g.79158661G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Asp63Tyr	rs185222126	missense variant	-	NC_000002.12:g.79158659C>A	1000Genomes
REG3A	Q06141	p.Asp65Glu	rs10169162	missense variant	-	NC_000002.12:g.79158651A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Asp65Asn	rs781248357	missense variant	-	NC_000002.12:g.79158653C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala67Thr	rs1444540912	missense variant	-	NC_000002.12:g.79158460C>T	TOPMed,gnomAD
REG3A	Q06141	p.Cys68Arg	rs1191683456	missense variant	-	NC_000002.12:g.79158457A>G	TOPMed,gnomAD
REG3A	Q06141	p.Cys68Ser	rs1191683456	missense variant	-	NC_000002.12:g.79158457A>T	TOPMed,gnomAD
REG3A	Q06141	p.Arg71Trp	rs538840781	missense variant	-	NC_000002.12:g.79158448G>A	ExAC,gnomAD
REG3A	Q06141	p.Arg71Leu	rs372677110	missense variant	-	NC_000002.12:g.79158447C>A	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg71Gln	rs372677110	missense variant	-	NC_000002.12:g.79158447C>T	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro72Ser	rs1202559849	missense variant	-	NC_000002.12:g.79158445G>A	gnomAD
REG3A	Q06141	p.Ser73Phe	rs918038567	missense variant	-	NC_000002.12:g.79158441G>A	TOPMed
REG3A	Q06141	p.Gly74Glu	rs865897000	missense variant	-	NC_000002.12:g.79158438C>T	gnomAD
REG3A	Q06141	p.Asn75Lys	rs778546234	missense variant	-	NC_000002.12:g.79158434G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser78Pro	rs754554463	missense variant	-	NC_000002.12:g.79158427A>G	ExAC,gnomAD
REG3A	Q06141	p.Leu80Phe	rs765861996	missense variant	-	NC_000002.12:g.79158421G>A	ExAC,gnomAD
REG3A	Q06141	p.Leu80Ile	rs765861996	missense variant	-	NC_000002.12:g.79158421G>T	ExAC,gnomAD
REG3A	Q06141	p.Leu80Arg	rs1278552938	missense variant	-	NC_000002.12:g.79158420A>C	gnomAD
REG3A	Q06141	p.Ser81Arg	rs755559938	missense variant	-	NC_000002.12:g.79158416A>C	ExAC,gnomAD
REG3A	Q06141	p.Gly82Val	rs190335034	missense variant	-	NC_000002.12:g.79158414C>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly82Glu	rs190335034	missense variant	-	NC_000002.12:g.79158414C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala83Ser	rs746972535	missense variant	-	NC_000002.12:g.79158412C>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Val88Met	rs764419758	missense variant	-	NC_000002.12:g.79158397C>T	ExAC,gnomAD
REG3A	Q06141	p.Ser89Pro	rs1175749117	missense variant	-	NC_000002.12:g.79158394A>G	gnomAD
REG3A	Q06141	p.Lys93Arg	rs868611127	missense variant	-	NC_000002.12:g.79158381T>C	TOPMed,gnomAD
REG3A	Q06141	p.Ser94Asn	rs938253452	missense variant	-	NC_000002.12:g.79158378C>T	TOPMed
REG3A	Q06141	p.Ile95Val	rs775456518	missense variant	-	NC_000002.12:g.79158376T>C	ExAC,gnomAD
REG3A	Q06141	p.Gly96Ser	rs767916040	missense variant	-	NC_000002.12:g.79158373C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser98Arg	rs745928990	missense variant	-	NC_000002.12:g.79158365G>C	ExAC,gnomAD
REG3A	Q06141	p.Tyr99His	rs773255584	missense variant	-	NC_000002.12:g.79158364A>G	ExAC
REG3A	Q06141	p.Tyr101Asn	rs771935417	missense variant	-	NC_000002.12:g.79158358A>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Val102Ile	rs199992892	missense variant	-	NC_000002.12:g.79158355C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile104Thr	rs141838256	missense variant	-	NC_000002.12:g.79158348A>G	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile104Met	rs754646366	missense variant	-	NC_000002.12:g.79158347A>C	ExAC,gnomAD
REG3A	Q06141	p.Gly105Glu	rs201022623	missense variant	-	NC_000002.12:g.79158345C>T	1000Genomes
REG3A	Q06141	p.Leu106Phe	rs1403718609	missense variant	-	NC_000002.12:g.79158343G>A	gnomAD
REG3A	Q06141	p.His107Tyr	rs11554092	missense variant	-	NC_000002.12:g.79158340G>A	-
REG3A	Q06141	p.Pro109Leu	rs779543410	missense variant	-	NC_000002.12:g.79158333G>A	ExAC,gnomAD
REG3A	Q06141	p.Pro109Ser	rs749016320	missense variant	-	NC_000002.12:g.79158334G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln111His	rs755718299	missense variant	-	NC_000002.12:g.79158326C>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Glu114Asp	rs921025329	missense variant	-	NC_000002.12:g.79157690C>A	TOPMed,gnomAD
REG3A	Q06141	p.Glu114Lys	rs372756064	missense variant	-	NC_000002.12:g.79157692C>T	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Asn116Ser	rs758852073	missense variant	-	NC_000002.12:g.79157685T>C	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly117Ala	rs752943154	missense variant	-	NC_000002.12:g.79157682C>G	ExAC,gnomAD
REG3A	Q06141	p.Gly117Glu	rs752943154	missense variant	-	NC_000002.12:g.79157682C>T	ExAC,gnomAD
REG3A	Q06141	p.Glu118Asp	rs962538834	missense variant	-	NC_000002.12:g.79157678T>A	TOPMed,gnomAD
REG3A	Q06141	p.Ser123Ile	rs1336451112	missense variant	-	NC_000002.12:g.79157664C>A	TOPMed,gnomAD
REG3A	Q06141	p.Ser124Asn	rs759637207	missense variant	-	NC_000002.12:g.79157661C>T	ExAC,gnomAD
REG3A	Q06141	p.Ser124Gly	rs1355287546	missense variant	-	NC_000002.12:g.79157662T>C	TOPMed
REG3A	Q06141	p.Ser125Thr	rs1440276901	missense variant	-	NC_000002.12:g.79157658C>G	TOPMed
REG3A	Q06141	p.Asp126Gly	rs1176214554	missense variant	-	NC_000002.12:g.79157655T>C	gnomAD
REG3A	Q06141	p.Val127Met	rs753973300	missense variant	-	NC_000002.12:g.79157653C>T	ExAC,gnomAD
REG3A	Q06141	p.Met128Leu	rs1298833663	missense variant	-	NC_000002.12:g.79157650T>A	gnomAD
REG3A	Q06141	p.Asn129Thr	rs766492988	missense variant	-	NC_000002.12:g.79157646T>G	ExAC,gnomAD
REG3A	Q06141	p.Tyr130His	rs760712859	missense variant	-	NC_000002.12:g.79157644A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Phe131Ser	rs768568662	missense variant	-	NC_000002.12:g.79157640A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Phe131Leu	rs150496065	missense variant	-	NC_000002.12:g.79157641A>G	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Trp133Ter	rs1442404983	stop gained	-	NC_000002.12:g.79157633C>T	TOPMed,gnomAD
REG3A	Q06141	p.Trp133Arg	rs199733463	missense variant	-	NC_000002.12:g.79157635A>G	gnomAD
REG3A	Q06141	p.Glu134Lys	rs1239541266	missense variant	-	NC_000002.12:g.79157632C>T	gnomAD
REG3A	Q06141	p.Asn136Ser	rs199647531	missense variant	-	NC_000002.12:g.79157625T>C	1000Genomes
REG3A	Q06141	p.Pro137Ser	rs200652760	missense variant	-	NC_000002.12:g.79157623G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro137Ala	rs200652760	missense variant	-	NC_000002.12:g.79157623G>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Thr139Ala	rs780972303	missense variant	-	NC_000002.12:g.79157617T>C	ExAC,gnomAD
REG3A	Q06141	p.Ser141Leu	rs746501690	missense variant	-	NC_000002.12:g.79157610G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser141Ter	rs746501690	stop gained	-	NC_000002.12:g.79157610G>C	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser142Arg	rs758760547	missense variant	-	NC_000002.12:g.79157606G>T	ExAC,gnomAD
REG3A	Q06141	p.Pro143Ser	rs753136032	missense variant	-	NC_000002.12:g.79157605G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro143Leu	rs201428369	missense variant	-	NC_000002.12:g.79157604G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly144Ser	rs199786695	missense variant	-	NC_000002.12:g.79157602C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.His145Arg	rs1372971620	missense variant	-	NC_000002.12:g.79157598T>C	TOPMed
REG3A	Q06141	p.Cys146Trp	rs766585040	missense variant	-	NC_000002.12:g.79157594A>C	ExAC,gnomAD
REG3A	Q06141	p.Ala147Gly	rs146653158	missense variant	-	NC_000002.12:g.79157592G>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala147Val	rs146653158	missense variant	-	NC_000002.12:g.79157592G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser148Arg	rs775380448	missense variant	-	NC_000002.12:g.79157588G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser148Asn	rs762763582	missense variant	-	NC_000002.12:g.79157589C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Leu149Gln	rs1014018274	missense variant	-	NC_000002.12:g.79157586A>T	TOPMed
REG3A	Q06141	p.Ser150Leu	rs1048512257	missense variant	-	NC_000002.12:g.79157583G>A	gnomAD
REG3A	Q06141	p.Leu156Arg	rs929798292	missense variant	-	NC_000002.12:g.79157287A>C	TOPMed
REG3A	Q06141	p.Asp160Tyr	rs926835992	missense variant	-	NC_000002.12:g.79157276C>A	-
REG3A	Q06141	p.Tyr161Cys	rs1382366550	missense variant	-	NC_000002.12:g.79157272T>C	gnomAD
REG3A	Q06141	p.Tyr161His	rs544569659	missense variant	-	NC_000002.12:g.79157273A>G	1000Genomes,ExAC,gnomAD
REG3A	Q06141	p.Val165Leu	rs1469966482	missense variant	-	NC_000002.12:g.79157261C>A	gnomAD
REG3A	Q06141	p.Arg166Trp	rs199719324	missense variant	-	NC_000002.12:g.79157258T>A	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Tyr169Cys	rs760354285	missense variant	-	NC_000002.12:g.79157248T>C	ExAC,gnomAD
REG3A	Q06141	p.Cys171Trp	rs747687128	missense variant	-	NC_000002.12:g.79157241G>C	ExAC,gnomAD
REG3A	Q06141	p.Thr174Ile	rs145613581	missense variant	-	NC_000002.12:g.79157233G>A	ESP,ExAC,TOPMed
REG3A	Q06141	p.Pro3Leu	rs565734557	missense variant	-	NC_000002.12:g.79159398G>A	1000Genomes,ExAC,gnomAD
REG3A	Q06141	p.Met5Val	rs1444246883	missense variant	-	NC_000002.12:g.79159393T>C	TOPMed
REG3A	Q06141	p.Met5Thr	rs775648232	missense variant	-	NC_000002.12:g.79159392A>G	ExAC,gnomAD
REG3A	Q06141	p.Ala6Val	rs147363673	missense variant	-	NC_000002.12:g.79159389G>A	TOPMed
REG3A	Q06141	p.Pro8His	rs936615714	missense variant	-	NC_000002.12:g.79159383G>T	TOPMed,gnomAD
REG3A	Q06141	p.Val10Leu	rs1209152267	missense variant	-	NC_000002.12:g.79159378C>A	gnomAD
REG3A	Q06141	p.Ser11Thr	rs779530381	missense variant	-	NC_000002.12:g.79159375A>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser11Phe	rs547113093	missense variant	-	NC_000002.12:g.79159374G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser11Pro	rs779530381	missense variant	-	NC_000002.12:g.79159375A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Met13Ile	rs1339210084	missense variant	-	NC_000002.12:g.79159367C>T	gnomAD
REG3A	Q06141	p.Met13Val	rs533239357	missense variant	-	NC_000002.12:g.79159369T>C	1000Genomes
REG3A	Q06141	p.Leu14Pro	rs780244740	missense variant	-	NC_000002.12:g.79159365A>G	ExAC,gnomAD
REG3A	Q06141	p.Leu15Ile	rs756356041	missense variant	-	NC_000002.12:g.79159363G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Leu15Phe	rs756356041	missense variant	-	NC_000002.12:g.79159363G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser16Phe	rs1370503388	missense variant	-	NC_000002.12:g.79159359G>A	TOPMed
REG3A	Q06141	p.Met19Leu	rs1380521422	missense variant	-	NC_000002.12:g.79159351T>G	gnomAD
REG3A	Q06141	p.Leu20Gln	rs1302690830	missense variant	-	NC_000002.12:g.79159347A>T	TOPMed,gnomAD
REG3A	Q06141	p.Ser22Cys	rs142625281	missense variant	-	NC_000002.12:g.79159341G>C	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln23His	rs115863131	missense variant	-	NC_000002.12:g.79159337C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln23Glu	rs372505618	missense variant	-	NC_000002.12:g.79159339G>C	ESP,gnomAD
REG3A	Q06141	p.Gln23Ter	rs372505618	stop gained	-	NC_000002.12:g.79159339G>A	ESP,gnomAD
REG3A	Q06141	p.Gln23Arg	rs1158606988	missense variant	-	NC_000002.12:g.79159338T>C	gnomAD
REG3A	Q06141	p.Gln25His	rs767560114	missense variant	-	NC_000002.12:g.79159331T>G	TOPMed,gnomAD
REG3A	Q06141	p.Gly26Ser	rs544174610	missense variant	-	NC_000002.12:g.79159330C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Glu27Lys	rs1488498588	missense variant	-	NC_000002.12:g.79158767C>T	gnomAD
REG3A	Q06141	p.Glu28Gln	rs775928429	missense variant	-	NC_000002.12:g.79158764C>G	ExAC,gnomAD
REG3A	Q06141	p.Glu28Ter	rs775928429	stop gained	-	NC_000002.12:g.79158764C>A	ExAC,gnomAD
REG3A	Q06141	p.Pro29Thr	rs558734956	missense variant	-	NC_000002.12:g.79158761G>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro29Leu	rs374191223	missense variant	-	NC_000002.12:g.79158760G>A	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln30His	rs781494401	missense variant	-	NC_000002.12:g.79158756C>A	ExAC,gnomAD
REG3A	Q06141	p.Arg31Lys	rs757491659	missense variant	-	NC_000002.12:g.79158754C>T	ExAC,gnomAD
REG3A	Q06141	p.Arg31Ser	rs747243184	missense variant	-	NC_000002.12:g.79158753C>A	ExAC,TOPMed
REG3A	Q06141	p.Glu32Lys	rs1334210991	missense variant	-	NC_000002.12:g.79158752C>T	gnomAD
REG3A	Q06141	p.Ser35Phe	rs778024360	missense variant	-	NC_000002.12:g.79158742G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala36Thr	rs879246680	missense variant	-	NC_000002.12:g.79158740C>T	gnomAD
REG3A	Q06141	p.Ala36Pro	rs879246680	missense variant	-	NC_000002.12:g.79158740C>G	gnomAD
REG3A	Q06141	p.Ala36Gly	rs758470629	missense variant	-	NC_000002.12:g.79158739G>C	ExAC,gnomAD
REG3A	Q06141	p.Arg37Gly	rs538408283	missense variant	-	NC_000002.12:g.79158737G>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg37Leu	rs138199548	missense variant	-	NC_000002.12:g.79158736C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg37Trp	rs538408283	missense variant	-	NC_000002.12:g.79158737G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg37Gln	rs138199548	missense variant	-	NC_000002.12:g.79158736C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile38Asn	rs190379872	missense variant	-	NC_000002.12:g.79158733A>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile38Ser	rs190379872	missense variant	-	NC_000002.12:g.79158733A>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg39Ser	rs141740162	missense variant	-	NC_000002.12:g.79158731G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg39Cys	rs141740162	missense variant	-	NC_000002.12:g.79158731G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg39His	rs139201953	missense variant	-	NC_000002.12:g.79158730C>T	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro41Leu	rs762429049	missense variant	-	NC_000002.12:g.79158724G>A	ExAC,gnomAD
REG3A	Q06141	p.Lys42Glu	rs1322129314	missense variant	-	NC_000002.12:g.79158722T>C	TOPMed
REG3A	Q06141	p.Gly43Ser	rs774925348	missense variant	-	NC_000002.12:g.79158719C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly43Ala	rs1446622924	missense variant	-	NC_000002.12:g.79158718C>G	TOPMed
REG3A	Q06141	p.Ser44Cys	rs1451859704	missense variant	-	NC_000002.12:g.79158715G>C	TOPMed,gnomAD
REG3A	Q06141	p.Ser44Phe	rs1451859704	missense variant	-	NC_000002.12:g.79158715G>A	TOPMed,gnomAD
REG3A	Q06141	p.Ser44Thr	rs770292081	missense variant	-	NC_000002.12:g.79158716A>T	ExAC,gnomAD
REG3A	Q06141	p.Lys45Met	rs1230408336	missense variant	-	NC_000002.12:g.79158712T>A	TOPMed
REG3A	Q06141	p.Ala46Thr	rs771324295	missense variant	-	NC_000002.12:g.79158710C>T	ExAC,gnomAD
REG3A	Q06141	p.Ala46Val	rs1294222630	missense variant	-	NC_000002.12:g.79158709G>A	TOPMed
REG3A	Q06141	p.Gly48Val	rs960792179	missense variant	-	NC_000002.12:g.79158703C>A	-
REG3A	Q06141	p.Gly48Arg	rs1328904894	missense variant	-	NC_000002.12:g.79158704C>G	TOPMed
REG3A	Q06141	p.Ser49Phe	rs1226859955	missense variant	-	NC_000002.12:g.79158700G>A	TOPMed
REG3A	Q06141	p.His50Pro	rs201139260	missense variant	-	NC_000002.12:g.79158697T>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.His50Asp	rs747395684	missense variant	-	NC_000002.12:g.79158698G>C	ExAC,gnomAD
REG3A	Q06141	p.Cys51Arg	rs772275781	missense variant	-	NC_000002.12:g.79158695A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Cys51Ser	rs772275781	missense variant	-	NC_000002.12:g.79158695A>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Leu54Phe	rs1281522343	missense variant	-	NC_000002.12:g.79158684C>G	gnomAD
REG3A	Q06141	p.Leu54Met	rs1330740608	missense variant	-	NC_000002.12:g.79158686A>T	gnomAD
REG3A	Q06141	p.Leu54Phe	rs1281522343	missense variant	-	NC_000002.12:g.79158684C>A	gnomAD
REG3A	Q06141	p.Phe55Leu	rs1342300516	missense variant	-	NC_000002.12:g.79158681A>C	gnomAD
REG3A	Q06141	p.Phe55Ile	rs748177286	missense variant	-	NC_000002.12:g.79158683A>T	ExAC,gnomAD
REG3A	Q06141	p.Lys59Asn	rs1399918229	missense variant	-	NC_000002.12:g.79158669T>A	gnomAD
REG3A	Q06141	p.Ser60Phe	rs779093650	missense variant	-	NC_000002.12:g.79158667G>A	ExAC,gnomAD
REG3A	Q06141	p.Trp61Ter	rs961991836	stop gained	-	NC_000002.12:g.79158663C>T	TOPMed
REG3A	Q06141	p.Thr62Ile	rs77686105	missense variant	-	NC_000002.12:g.79158661G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Asp63Tyr	rs185222126	missense variant	-	NC_000002.12:g.79158659C>A	1000Genomes
REG3A	Q06141	p.Asp65Glu	rs10169162	missense variant	-	NC_000002.12:g.79158651A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Asp65Asn	rs781248357	missense variant	-	NC_000002.12:g.79158653C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala67Thr	rs1444540912	missense variant	-	NC_000002.12:g.79158460C>T	TOPMed,gnomAD
REG3A	Q06141	p.Cys68Arg	rs1191683456	missense variant	-	NC_000002.12:g.79158457A>G	TOPMed,gnomAD
REG3A	Q06141	p.Cys68Ser	rs1191683456	missense variant	-	NC_000002.12:g.79158457A>T	TOPMed,gnomAD
REG3A	Q06141	p.Arg71Gln	rs372677110	missense variant	-	NC_000002.12:g.79158447C>T	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg71Leu	rs372677110	missense variant	-	NC_000002.12:g.79158447C>A	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Arg71Trp	rs538840781	missense variant	-	NC_000002.12:g.79158448G>A	ExAC,gnomAD
REG3A	Q06141	p.Pro72Ser	rs1202559849	missense variant	-	NC_000002.12:g.79158445G>A	gnomAD
REG3A	Q06141	p.Ser73Phe	rs918038567	missense variant	-	NC_000002.12:g.79158441G>A	TOPMed
REG3A	Q06141	p.Gly74Glu	rs865897000	missense variant	-	NC_000002.12:g.79158438C>T	gnomAD
REG3A	Q06141	p.Asn75Lys	rs778546234	missense variant	-	NC_000002.12:g.79158434G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser78Pro	rs754554463	missense variant	-	NC_000002.12:g.79158427A>G	ExAC,gnomAD
REG3A	Q06141	p.Leu80Phe	rs765861996	missense variant	-	NC_000002.12:g.79158421G>A	ExAC,gnomAD
REG3A	Q06141	p.Leu80Arg	rs1278552938	missense variant	-	NC_000002.12:g.79158420A>C	gnomAD
REG3A	Q06141	p.Leu80Ile	rs765861996	missense variant	-	NC_000002.12:g.79158421G>T	ExAC,gnomAD
REG3A	Q06141	p.Ser81Arg	rs755559938	missense variant	-	NC_000002.12:g.79158416A>C	ExAC,gnomAD
REG3A	Q06141	p.Gly82Glu	rs190335034	missense variant	-	NC_000002.12:g.79158414C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly82Val	rs190335034	missense variant	-	NC_000002.12:g.79158414C>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala83Ser	rs746972535	missense variant	-	NC_000002.12:g.79158412C>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Val88Met	rs764419758	missense variant	-	NC_000002.12:g.79158397C>T	ExAC,gnomAD
REG3A	Q06141	p.Ser89Pro	rs1175749117	missense variant	-	NC_000002.12:g.79158394A>G	gnomAD
REG3A	Q06141	p.Lys93Arg	rs868611127	missense variant	-	NC_000002.12:g.79158381T>C	TOPMed,gnomAD
REG3A	Q06141	p.Ser94Asn	rs938253452	missense variant	-	NC_000002.12:g.79158378C>T	TOPMed
REG3A	Q06141	p.Ile95Val	rs775456518	missense variant	-	NC_000002.12:g.79158376T>C	ExAC,gnomAD
REG3A	Q06141	p.Gly96Ser	rs767916040	missense variant	-	NC_000002.12:g.79158373C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser98Arg	rs745928990	missense variant	-	NC_000002.12:g.79158365G>C	ExAC,gnomAD
REG3A	Q06141	p.Tyr99His	rs773255584	missense variant	-	NC_000002.12:g.79158364A>G	ExAC
REG3A	Q06141	p.Tyr101Asn	rs771935417	missense variant	-	NC_000002.12:g.79158358A>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Val102Ile	rs199992892	missense variant	-	NC_000002.12:g.79158355C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile104Thr	rs141838256	missense variant	-	NC_000002.12:g.79158348A>G	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ile104Met	rs754646366	missense variant	-	NC_000002.12:g.79158347A>C	ExAC,gnomAD
REG3A	Q06141	p.Gly105Glu	rs201022623	missense variant	-	NC_000002.12:g.79158345C>T	1000Genomes
REG3A	Q06141	p.Leu106Phe	rs1403718609	missense variant	-	NC_000002.12:g.79158343G>A	gnomAD
REG3A	Q06141	p.His107Tyr	rs11554092	missense variant	-	NC_000002.12:g.79158340G>A	-
REG3A	Q06141	p.Pro109Leu	rs779543410	missense variant	-	NC_000002.12:g.79158333G>A	ExAC,gnomAD
REG3A	Q06141	p.Pro109Ser	rs749016320	missense variant	-	NC_000002.12:g.79158334G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gln111His	rs755718299	missense variant	-	NC_000002.12:g.79158326C>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Glu114Asp	rs921025329	missense variant	-	NC_000002.12:g.79157690C>A	TOPMed,gnomAD
REG3A	Q06141	p.Glu114Lys	rs372756064	missense variant	-	NC_000002.12:g.79157692C>T	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Asn116Ser	rs758852073	missense variant	-	NC_000002.12:g.79157685T>C	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly117Glu	rs752943154	missense variant	-	NC_000002.12:g.79157682C>T	ExAC,gnomAD
REG3A	Q06141	p.Gly117Ala	rs752943154	missense variant	-	NC_000002.12:g.79157682C>G	ExAC,gnomAD
REG3A	Q06141	p.Glu118Asp	rs962538834	missense variant	-	NC_000002.12:g.79157678T>A	TOPMed,gnomAD
REG3A	Q06141	p.Ser123Ile	rs1336451112	missense variant	-	NC_000002.12:g.79157664C>A	TOPMed,gnomAD
REG3A	Q06141	p.Ser124Asn	rs759637207	missense variant	-	NC_000002.12:g.79157661C>T	ExAC,gnomAD
REG3A	Q06141	p.Ser124Gly	rs1355287546	missense variant	-	NC_000002.12:g.79157662T>C	TOPMed
REG3A	Q06141	p.Ser125Thr	rs1440276901	missense variant	-	NC_000002.12:g.79157658C>G	TOPMed
REG3A	Q06141	p.Asp126Gly	rs1176214554	missense variant	-	NC_000002.12:g.79157655T>C	gnomAD
REG3A	Q06141	p.Val127Met	rs753973300	missense variant	-	NC_000002.12:g.79157653C>T	ExAC,gnomAD
REG3A	Q06141	p.Met128Leu	rs1298833663	missense variant	-	NC_000002.12:g.79157650T>A	gnomAD
REG3A	Q06141	p.Asn129Thr	rs766492988	missense variant	-	NC_000002.12:g.79157646T>G	ExAC,gnomAD
REG3A	Q06141	p.Tyr130His	rs760712859	missense variant	-	NC_000002.12:g.79157644A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Phe131Leu	rs150496065	missense variant	-	NC_000002.12:g.79157641A>G	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Phe131Ser	rs768568662	missense variant	-	NC_000002.12:g.79157640A>G	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Trp133Arg	rs199733463	missense variant	-	NC_000002.12:g.79157635A>G	gnomAD
REG3A	Q06141	p.Trp133Ter	rs1442404983	stop gained	-	NC_000002.12:g.79157633C>T	TOPMed,gnomAD
REG3A	Q06141	p.Glu134Lys	rs1239541266	missense variant	-	NC_000002.12:g.79157632C>T	gnomAD
REG3A	Q06141	p.Asn136Ser	rs199647531	missense variant	-	NC_000002.12:g.79157625T>C	1000Genomes
REG3A	Q06141	p.Pro137Ser	rs200652760	missense variant	-	NC_000002.12:g.79157623G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro137Ala	rs200652760	missense variant	-	NC_000002.12:g.79157623G>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Thr139Ala	rs780972303	missense variant	-	NC_000002.12:g.79157617T>C	ExAC,gnomAD
REG3A	Q06141	p.Ser141Leu	rs746501690	missense variant	-	NC_000002.12:g.79157610G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser141Ter	rs746501690	stop gained	-	NC_000002.12:g.79157610G>C	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser142Arg	rs758760547	missense variant	-	NC_000002.12:g.79157606G>T	ExAC,gnomAD
REG3A	Q06141	p.Pro143Leu	rs201428369	missense variant	-	NC_000002.12:g.79157604G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Pro143Ser	rs753136032	missense variant	-	NC_000002.12:g.79157605G>A	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Gly144Ser	rs199786695	missense variant	-	NC_000002.12:g.79157602C>T	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.His145Arg	rs1372971620	missense variant	-	NC_000002.12:g.79157598T>C	TOPMed
REG3A	Q06141	p.Cys146Trp	rs766585040	missense variant	-	NC_000002.12:g.79157594A>C	ExAC,gnomAD
REG3A	Q06141	p.Ala147Gly	rs146653158	missense variant	-	NC_000002.12:g.79157592G>C	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ala147Val	rs146653158	missense variant	-	NC_000002.12:g.79157592G>A	1000Genomes,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser148Arg	rs775380448	missense variant	-	NC_000002.12:g.79157588G>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Ser148Asn	rs762763582	missense variant	-	NC_000002.12:g.79157589C>T	ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Leu149Gln	rs1014018274	missense variant	-	NC_000002.12:g.79157586A>T	TOPMed
REG3A	Q06141	p.Ser150Leu	rs1048512257	missense variant	-	NC_000002.12:g.79157583G>A	gnomAD
REG3A	Q06141	p.Leu156Arg	rs929798292	missense variant	-	NC_000002.12:g.79157287A>C	TOPMed
REG3A	Q06141	p.Asp160Tyr	rs926835992	missense variant	-	NC_000002.12:g.79157276C>A	-
REG3A	Q06141	p.Tyr161Cys	rs1382366550	missense variant	-	NC_000002.12:g.79157272T>C	gnomAD
REG3A	Q06141	p.Tyr161His	rs544569659	missense variant	-	NC_000002.12:g.79157273A>G	1000Genomes,ExAC,gnomAD
REG3A	Q06141	p.Val165Leu	rs1469966482	missense variant	-	NC_000002.12:g.79157261C>A	gnomAD
REG3A	Q06141	p.Arg166Trp	rs199719324	missense variant	-	NC_000002.12:g.79157258T>A	ESP,ExAC,TOPMed,gnomAD
REG3A	Q06141	p.Tyr169Cys	rs760354285	missense variant	-	NC_000002.12:g.79157248T>C	ExAC,gnomAD
REG3A	Q06141	p.Cys171Trp	rs747687128	missense variant	-	NC_000002.12:g.79157241G>C	ExAC,gnomAD
REG3A	Q06141	p.Thr174Ile	rs145613581	missense variant	-	NC_000002.12:g.79157233G>A	ESP,ExAC,TOPMed
RAD51	Q06609	p.Met3Val	rs751792276	missense variant	-	NC_000015.10:g.40698765A>G	ExAC,TOPMed
RAD51	Q06609	p.Gln4His	rs1335930270	missense variant	-	NC_000015.10:g.40698770G>C	gnomAD
RAD51	Q06609	p.Ala9Val	rs944000401	missense variant	-	NC_000015.10:g.40698784C>T	TOPMed
RAD51	Q06609	p.Ala11Gly	rs1286692919	missense variant	-	NC_000015.10:g.40698790C>G	gnomAD
RAD51	Q06609	p.Asp12Asn	rs1362216112	missense variant	-	NC_000015.10:g.40698792G>A	TOPMed
RAD51	Q06609	p.Asp12Gly	rs1246018948	missense variant	-	NC_000015.10:g.40698793A>G	gnomAD
RAD51	Q06609	p.Asp12Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40698793A>C	NCI-TCGA
RAD51	Q06609	p.Asp12His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40698792G>C	NCI-TCGA
RAD51	Q06609	p.Val15Glu	rs1159091605	missense variant	-	NC_000015.10:g.40698802T>A	TOPMed
RAD51	Q06609	p.Glu18Ter	rs1487695348	stop gained	-	NC_000015.10:g.40698810G>T	gnomAD
RAD51	Q06609	p.Glu18Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40698810G>A	NCI-TCGA
RAD51	Q06609	p.Ser19Gly	rs755132632	missense variant	-	NC_000015.10:g.40698813A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Gln23Arg	rs781383372	missense variant	-	NC_000015.10:g.40698826A>G	ExAC,gnomAD
RAD51	Q06609	p.Ile25Val	rs1200593832	missense variant	-	NC_000015.10:g.40698831A>G	TOPMed
RAD51	Q06609	p.Ser26Leu	rs1180753546	missense variant	-	NC_000015.10:g.40698835C>T	gnomAD
RAD51	Q06609	p.Arg27Gln	rs778132081	missense variant	-	NC_000015.10:g.40698838G>A	ExAC,gnomAD
RAD51	Q06609	p.Arg27Trp	rs756713380	missense variant	-	NC_000015.10:g.40698837C>T	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Glu29Gly	rs1489593050	missense variant	-	NC_000015.10:g.40698844A>G	TOPMed
RAD51	Q06609	p.Glu29Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40698845G>T	NCI-TCGA
RAD51	Q06609	p.Ile33Met	COSM4917851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40701075A>G	NCI-TCGA Cosmic
RAD51	Q06609	p.Asn34Thr	rs751379027	missense variant	-	NC_000015.10:g.40701077A>C	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala35Asp	rs377571591	missense variant	-	NC_000015.10:g.40701080C>A	ESP,TOPMed,gnomAD
RAD51	Q06609	p.Ala35Thr	rs755292488	missense variant	-	NC_000015.10:g.40701079G>A	ExAC,gnomAD
RAD51	Q06609	p.Asp37Ala	rs756092232	missense variant	-	NC_000015.10:g.40701086A>C	ExAC,gnomAD
RAD51	Q06609	p.Asp37Asn	rs1428987216	missense variant	-	NC_000015.10:g.40701085G>A	gnomAD
RAD51	Q06609	p.Asp37Val	rs756092232	missense variant	-	NC_000015.10:g.40701086A>T	ExAC,gnomAD
RAD51	Q06609	p.Leu41Phe	rs757735432	missense variant	-	NC_000015.10:g.40701099G>T	ExAC,gnomAD
RAD51	Q06609	p.Glu42Ter	rs1302486714	stop gained	-	NC_000015.10:g.40701100G>T	gnomAD
RAD51	Q06609	p.Gly45Ala	rs779286806	missense variant	-	NC_000015.10:g.40701110G>C	ExAC,gnomAD
RAD51	Q06609	p.Phe46Cys	rs746224582	missense variant	-	NC_000015.10:g.40701113T>G	ExAC,gnomAD
RAD51	Q06609	p.Phe46Leu	rs1298742495	missense variant	-	NC_000015.10:g.40701114C>G	gnomAD
RAD51	Q06609	p.His47Asn	COSM4878945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40701115C>A	NCI-TCGA Cosmic
RAD51	Q06609	p.His47Arg	RCV000192085	missense variant	Mirror movements 2 (MRMV2)	NC_000015.10:g.40701116A>G	ClinVar
RAD51	Q06609	p.His47Arg	rs768411477	missense variant	-	NC_000015.10:g.40701116A>G	ExAC,gnomAD
RAD51	Q06609	p.Val49Ala	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40701122T>C	NCI-TCGA
RAD51	Q06609	p.Glu50Val	rs999567341	missense variant	-	NC_000015.10:g.40701125A>T	TOPMed
RAD51	Q06609	p.Val52Ile	rs747697371	missense variant	-	NC_000015.10:g.40701130G>A	ExAC,gnomAD
RAD51	Q06609	p.Ala53Thr	rs1313509498	missense variant	-	NC_000015.10:g.40701133G>A	gnomAD
RAD51	Q06609	p.Tyr54Cys	rs769146109	missense variant	-	NC_000015.10:g.40701137A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala55Val	rs145617142	missense variant	-	NC_000015.10:g.40701140C>T	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Pro56Ser	rs45623838	missense variant	-	NC_000015.10:g.40701142C>T	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Lys57Arg	rs1448625265	missense variant	-	NC_000015.10:g.40701146A>G	gnomAD
RAD51	Q06609	p.Lys57Asn	COSM961288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40701147G>T	NCI-TCGA Cosmic
RAD51	Q06609	p.Asn62Asp	rs1371546291	missense variant	-	NC_000015.10:g.40701160A>G	TOPMed
RAD51	Q06609	p.Ile63Thr	rs531275069	missense variant	-	NC_000015.10:g.40701164T>C	1000Genomes,ExAC,gnomAD
RAD51	Q06609	p.Ile63Met	rs1427093630	missense variant	-	NC_000015.10:g.40701165T>G	gnomAD
RAD51	Q06609	p.Ser67Ile	rs1163399253	missense variant	-	NC_000015.10:g.40701176G>T	NCI-TCGA Cosmic
RAD51	Q06609	p.Ser67Asn	rs1163399253	missense variant	-	NC_000015.10:g.40701176G>A	TOPMed
RAD51	Q06609	p.Ser67Ile	rs1163399253	missense variant	-	NC_000015.10:g.40701176G>T	TOPMed
RAD51	Q06609	p.Ala69Pro	rs143055953	missense variant	-	NC_000015.10:g.40701181G>C	ESP,TOPMed
RAD51	Q06609	p.Ala69Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40701181G>T	NCI-TCGA
RAD51	Q06609	p.Asp72Val	rs1164062003	missense variant	-	NC_000015.10:g.40701191A>T	TOPMed
RAD51	Q06609	p.Lys73Arg	rs1415120657	missense variant	-	NC_000015.10:g.40701194A>G	gnomAD
RAD51	Q06609	p.Glu77Gly	rs1218843632	missense variant	-	NC_000015.10:g.40706181A>G	gnomAD
RAD51	Q06609	p.Ala78Ser	rs1335853382	missense variant	-	NC_000015.10:g.40706183G>T	TOPMed,gnomAD
RAD51	Q06609	p.Ala79Val	rs146489542	missense variant	-	NC_000015.10:g.40706187C>T	1000Genomes,ExAC,gnomAD
RAD51	Q06609	p.Lys80Glu	rs1312157762	missense variant	-	NC_000015.10:g.40706189A>G	TOPMed
RAD51	Q06609	p.Lys80Ile	rs751930241	missense variant	-	NC_000015.10:g.40706190A>T	ExAC,gnomAD
RAD51	Q06609	p.Leu81Phe	rs1312603787	missense variant	-	NC_000015.10:g.40706194A>T	gnomAD
RAD51	Q06609	p.Val82Ile	rs1367039588	missense variant	-	NC_000015.10:g.40706195G>A	gnomAD
RAD51	Q06609	p.Met84Val	rs755778442	missense variant	-	NC_000015.10:g.40706201A>G	ExAC,gnomAD
RAD51	Q06609	p.Gly85Asp	rs777561646	missense variant	-	NC_000015.10:g.40706205G>A	ExAC,gnomAD
RAD51	Q06609	p.Phe86Leu	COSM1478082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40706209C>A	NCI-TCGA Cosmic
RAD51	Q06609	p.His93Tyr	rs748809229	missense variant	-	NC_000015.10:g.40706228C>T	ExAC
RAD51	Q06609	p.Gln94Glu	rs376382204	missense variant	-	NC_000015.10:g.40706231C>G	ESP,TOPMed,gnomAD
RAD51	Q06609	p.Arg96Trp	rs1013168760	missense variant	-	NC_000015.10:g.40706237C>T	TOPMed
RAD51	Q06609	p.Glu98Asp	rs1048716857	missense variant	-	NC_000015.10:g.40706245G>C	TOPMed
RAD51	Q06609	p.Glu98Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40706245G>T	NCI-TCGA
RAD51	Q06609	p.Gln101Glu	rs1279669649	missense variant	-	NC_000015.10:g.40706252C>G	gnomAD
RAD51	Q06609	p.Gln101His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40706254G>C	NCI-TCGA
RAD51	Q06609	p.Ile102Val	rs779012045	missense variant	-	NC_000015.10:g.40706255A>G	ExAC
RAD51	Q06609	p.Ile102Met	rs745749160	missense variant	-	NC_000015.10:g.40706257T>G	ExAC
RAD51	Q06609	p.Thr104Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40706262C>T	NCI-TCGA
RAD51	Q06609	p.Lys107Asn	COSM4940196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40706272A>T	NCI-TCGA Cosmic
RAD51	Q06609	p.Lys107Thr	rs1250316987	missense variant	-	NC_000015.10:g.40706271A>C	gnomAD
RAD51	Q06609	p.Glu108Gln	rs775210378	missense variant	-	NC_000015.10:g.40706273G>C	ExAC,gnomAD
RAD51	Q06609	p.Lys111Arg	rs760517215	missense variant	-	NC_000015.10:g.40706283A>G	ExAC,gnomAD
RAD51	Q06609	p.Leu112Ile	rs768873069	missense variant	-	NC_000015.10:g.40706285C>A	ExAC,gnomAD
RAD51	Q06609	p.Ile117Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40709031T>C	NCI-TCGA
RAD51	Q06609	p.Ser121Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40709043C>A	NCI-TCGA
RAD51	Q06609	p.Ile122Val	rs143362775	missense variant	-	NC_000015.10:g.40709045A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Met125Val	rs1388472001	missense variant	-	NC_000015.10:g.40709054A>G	gnomAD
RAD51	Q06609	p.Thr131Pro	VAR_076870	Missense	Fanconi anemia, complementation group R (FANCR) [MIM:617244]	-	UniProt
RAD51	Q06609	p.Ile136Phe	RCV000192086	missense variant	Mirror movements 2 (MRMV2)	NC_000015.10:g.40709087A>T	ClinVar
RAD51	Q06609	p.Ile136Phe	rs797044557	missense variant	-	NC_000015.10:g.40709087A>T	-
RAD51	Q06609	p.Thr139Met	rs148345609	missense variant	-	NC_000015.10:g.40709097C>T	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala141Ser	rs757033061	missense variant	-	NC_000015.10:g.40709102G>T	ExAC,gnomAD
RAD51	Q06609	p.Ala141Val	rs1259366727	missense variant	-	NC_000015.10:g.40709103C>T	gnomAD
RAD51	Q06609	p.Asp149Asn	COSM4844703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40718814G>A	NCI-TCGA Cosmic
RAD51	Q06609	p.Arg150Gln	RCV000014007	missense variant	Familial cancer of breast	NC_000015.10:g.40718818G>A	ClinVar
RAD51	Q06609	p.Arg150Trp	rs1359302940	missense variant	-	NC_000015.10:g.40718817C>T	TOPMed
RAD51	Q06609	p.Arg150Gln	rs121917739	missense variant	Breast cancer (BC)	NC_000015.10:g.40718818G>A	UniProt,dbSNP
RAD51	Q06609	p.Arg150Gln	VAR_010899	missense variant	Breast cancer (BC)	NC_000015.10:g.40718818G>A	UniProt
RAD51	Q06609	p.Arg150Gln	rs121917739	missense variant	-	NC_000015.10:g.40718818G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Gly151Cys	rs1247974770	missense variant	-	NC_000015.10:g.40718820G>T	gnomAD
RAD51	Q06609	p.Gly151Ala	rs1015877091	missense variant	-	NC_000015.10:g.40718821G>C	TOPMed,gnomAD
RAD51	Q06609	p.Gly153Asp	rs1187974177	missense variant	-	NC_000015.10:g.40718827G>A	gnomAD
RAD51	Q06609	p.Met158Ile	rs781102405	missense variant	-	NC_000015.10:g.40718843G>A	ExAC,gnomAD
RAD51	Q06609	p.Met158Thr	rs1440531742	missense variant	-	NC_000015.10:g.40718842T>C	gnomAD
RAD51	Q06609	p.Ile160Val	rs752492487	missense variant	-	NC_000015.10:g.40718847A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Gly164Val	rs1304358961	missense variant	-	NC_000015.10:g.40718860G>T	TOPMed,gnomAD
RAD51	Q06609	p.Glu169Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40718874G>C	NCI-TCGA
RAD51	Q06609	p.Arg170Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40718878G>A	NCI-TCGA
RAD51	Q06609	p.Val174Met	rs1381595625	missense variant	-	NC_000015.10:g.40718889G>A	TOPMed,gnomAD
RAD51	Q06609	p.Glu176Gln	COSM5685612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40718895G>C	NCI-TCGA Cosmic
RAD51	Q06609	p.Tyr178Cys	rs779214128	missense variant	-	NC_000015.10:g.40728713A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Gly179Ser	rs772233325	missense variant	-	NC_000015.10:g.40728715G>A	ExAC,gnomAD
RAD51	Q06609	p.Gly179Asp	rs913824562	missense variant	-	NC_000015.10:g.40728716G>A	gnomAD
RAD51	Q06609	p.Leu180Val	rs1210342872	missense variant	-	NC_000015.10:g.40728718C>G	gnomAD
RAD51	Q06609	p.Asp187Gly	rs769021479	missense variant	-	NC_000015.10:g.40728740A>G	ExAC,gnomAD
RAD51	Q06609	p.Asp187Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40728739G>A	NCI-TCGA
RAD51	Q06609	p.Ala194Val	COSM961290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40728761C>T	NCI-TCGA Cosmic
RAD51	Q06609	p.Thr201Ala	rs1321607563	missense variant	-	NC_000015.10:g.40728781A>G	gnomAD
RAD51	Q06609	p.Gln202Arg	rs1468791932	missense variant	-	NC_000015.10:g.40728785A>G	TOPMed
RAD51	Q06609	p.Gln202Lys	rs773933143	missense variant	-	NC_000015.10:g.40728784C>A	ExAC,gnomAD
RAD51	Q06609	p.Tyr205His	rs1555429486	missense variant	-	NC_000015.10:g.40728793T>C	-
RAD51	Q06609	p.Tyr205His	RCV000499921	missense variant	-	NC_000015.10:g.40728793T>C	ClinVar
RAD51	Q06609	p.Gln206Glu	rs759067637	missense variant	-	NC_000015.10:g.40728796C>G	ExAC,gnomAD
RAD51	Q06609	p.Ala209Val	COSM4054411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40728806C>T	NCI-TCGA Cosmic
RAD51	Q06609	p.Ala209Thr	rs1470830931	missense variant	-	NC_000015.10:g.40728805G>A	gnomAD
RAD51	Q06609	p.Met210Ile	rs1049055390	missense variant	-	NC_000015.10:g.40728810G>C	TOPMed,gnomAD
RAD51	Q06609	p.Val212Ala	rs1223584622	missense variant	-	NC_000015.10:g.40728815T>C	TOPMed,gnomAD
RAD51	Q06609	p.Arg215Lys	COSM3500935	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40728824G>A	NCI-TCGA Cosmic
RAD51	Q06609	p.Tyr216His	rs776385951	missense variant	-	NC_000015.10:g.40729506T>C	ExAC,gnomAD
RAD51	Q06609	p.Leu218Arg	COSM433801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40729513T>G	NCI-TCGA Cosmic
RAD51	Q06609	p.Val221Ile	rs1010252308	missense variant	-	NC_000015.10:g.40729521G>A	TOPMed,gnomAD
RAD51	Q06609	p.Asp222Gly	rs1332437837	missense variant	-	NC_000015.10:g.40729525A>G	gnomAD
RAD51	Q06609	p.Ala224Gly	rs142701178	missense variant	-	NC_000015.10:g.40729531C>G	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala226Thr	rs1249471221	missense variant	-	NC_000015.10:g.40729536G>A	TOPMed
RAD51	Q06609	p.Ser233Leu	rs751662795	missense variant	-	NC_000015.10:g.40729558C>T	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ser233Trp	rs751662795	missense variant	-	NC_000015.10:g.40729558C>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Met243Val	rs1196348842	missense variant	-	NC_000015.10:g.40729587A>G	gnomAD
RAD51	Q06609	p.Met243Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40729589G>A	NCI-TCGA
RAD51	Q06609	p.Leu245Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40729593T>A	NCI-TCGA
RAD51	Q06609	p.Ala246Ser	rs1249286135	missense variant	-	NC_000015.10:g.40729596G>T	gnomAD
RAD51	Q06609	p.Arg247Lys	rs1329200373	missense variant	-	NC_000015.10:g.40729600G>A	gnomAD
RAD51	Q06609	p.Arg250Gln	rs1555429623	missense variant	Mirror movements 2 (mrmv2)	NC_000015.10:g.40729609G>A	-
RAD51	Q06609	p.Arg250Gln	RCV000542570	missense variant	Mirror movements 2 (MRMV2)	NC_000015.10:g.40729609G>A	ClinVar
RAD51	Q06609	p.Leu252Ile	rs1015133204	missense variant	-	NC_000015.10:g.40729614C>A	TOPMed
RAD51	Q06609	p.Leu253Arg	rs376436790	missense variant	-	NC_000015.10:g.40729618T>G	ESP
RAD51	Q06609	p.Arg254Ter	RCV000022747	nonsense	Mirror movements 2 (MRMV2)	NC_000015.10:g.40729620C>T	ClinVar
RAD51	Q06609	p.Arg254Ter	rs199925463	stop gained	Mirror movements 2 (mrmv2)	NC_000015.10:g.40729620C>T	TOPMed,gnomAD
RAD51	Q06609	p.Arg254Gln	rs371150683	missense variant	-	NC_000015.10:g.40729621G>A	ESP,ExAC,gnomAD
RAD51	Q06609	p.Arg254Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40729621G>T	NCI-TCGA
RAD51	Q06609	p.Ala256Thr	rs374507935	missense variant	-	NC_000015.10:g.40729626G>A	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Glu258Lys	RCV000626039	missense variant	Fanconi anemia, complementation group R (FANCR)	NC_000015.10:g.40729632G>A	ClinVar
RAD51	Q06609	p.Glu258Ala	rs191297852	missense variant	-	NC_000015.10:g.40729633A>C	1000Genomes,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Glu258Lys	rs1555429629	missense variant	-	NC_000015.10:g.40729632G>A	-
RAD51	Q06609	p.Ile265Met	rs1202149010	missense variant	-	NC_000015.10:g.40729873C>G	TOPMed,gnomAD
RAD51	Q06609	p.Ala271Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40729889G>T	NCI-TCGA
RAD51	Q06609	p.Gln272Leu	COSM470584	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40729893A>T	NCI-TCGA Cosmic
RAD51	Q06609	p.Val273Ala	rs1006483116	missense variant	-	NC_000015.10:g.40729896T>C	TOPMed
RAD51	Q06609	p.Asp274Gly	rs1372266851	missense variant	-	NC_000015.10:g.40729899A>G	TOPMed
RAD51	Q06609	p.Ala276Thr	rs1297305918	missense variant	-	NC_000015.10:g.40729904G>A	TOPMed
RAD51	Q06609	p.Ala277Val	rs532630164	missense variant	-	NC_000015.10:g.40729908C>T	1000Genomes,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Met278Val	rs760678101	missense variant	-	NC_000015.10:g.40729910A>G	ExAC,gnomAD
RAD51	Q06609	p.Ala281Ser	rs764611353	missense variant	-	NC_000015.10:g.40729919G>T	ExAC,gnomAD
RAD51	Q06609	p.Ala281Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40729919G>C	NCI-TCGA
RAD51	Q06609	p.Pro283Ser	rs1353527989	missense variant	-	NC_000015.10:g.40729925C>T	TOPMed,gnomAD
RAD51	Q06609	p.Lys284Arg	rs754306806	missense variant	-	NC_000015.10:g.40729929A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Pro286Leu	RCV000522398	missense variant	-	NC_000015.10:g.40729935C>T	ClinVar
RAD51	Q06609	p.Pro286Ter	RCV000022748	frameshift	Mirror movements 2 (MRMV2)	NC_000015.10:g.40729933dup	ClinVar
RAD51	Q06609	p.Pro286Leu	rs1555429670	missense variant	-	NC_000015.10:g.40729935C>T	-
RAD51	Q06609	p.Ile287Thr	rs757733241	missense variant	-	NC_000015.10:g.40729938T>C	ExAC,gnomAD
RAD51	Q06609	p.Ile287Val	rs1429537575	missense variant	-	NC_000015.10:g.40729937A>G	TOPMed,gnomAD
RAD51	Q06609	p.Ala293Thr	RCV000412566	missense variant	Fanconi anemia, complementation group R (FANCR)	NC_000015.10:g.40729955G>A	ClinVar
RAD51	Q06609	p.Ala293Thr	RCV000622620	missense variant	Inborn genetic diseases	NC_000015.10:g.40729955G>A	ClinVar
RAD51	Q06609	p.Ala293Thr	rs1057519413	missense variant	-	NC_000015.10:g.40729955G>A	-
RAD51	Q06609	p.Ser296Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40729965C>T	NCI-TCGA
RAD51	Q06609	p.Tyr301Cys	rs1386249322	missense variant	-	NC_000015.10:g.40731060A>G	TOPMed
RAD51	Q06609	p.Gly307Ala	rs762285836	missense variant	-	NC_000015.10:g.40731078G>C	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Gly307Trp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40731077G>T	NCI-TCGA
RAD51	Q06609	p.Cys312Tyr	COSM1301079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.40731093G>A	NCI-TCGA Cosmic
RAD51	Q06609	p.Cys312Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40731092T>A	NCI-TCGA
RAD51	Q06609	p.Lys313Arg	rs767097377	missense variant	-	NC_000015.10:g.40731096A>G	ExAC,gnomAD
RAD51	Q06609	p.Asp316Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40731104G>A	NCI-TCGA
RAD51	Q06609	p.Glu324Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40731128G>A	NCI-TCGA
RAD51	Q06609	p.Met326Ile	rs374679595	missense variant	-	NC_000015.10:g.40731136G>A	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Met326Val	rs755797075	missense variant	-	NC_000015.10:g.40731134A>G	ExAC,gnomAD
RAD51	Q06609	p.Ala328Ser	rs367685211	missense variant	-	NC_000015.10:g.40731140G>T	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala328Thr	rs367685211	missense variant	-	NC_000015.10:g.40731140G>A	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala328Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40731141C>T	NCI-TCGA
RAD51	Q06609	p.Asp332His	rs1263727210	missense variant	-	NC_000015.10:g.40731152G>C	TOPMed
RAD51	Q06609	p.Asp332Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.40731152G>A	NCI-TCGA
RAD51	Q06609	p.Asp339His	rs1391217140	missense variant	-	NC_000015.10:g.40731173G>C	gnomAD
RAD51	Q06609	p.Ter340Arg	rs1484599682	stop lost	-	NC_000015.10:g.40731176T>C	TOPMed
RAD51	Q06609	p.Met3Val	rs751792276	missense variant	-	NC_000015.10:g.40698765A>G	ExAC,TOPMed
RAD51	Q06609	p.Gln4His	rs1335930270	missense variant	-	NC_000015.10:g.40698770G>C	gnomAD
RAD51	Q06609	p.Ala9Val	rs944000401	missense variant	-	NC_000015.10:g.40698784C>T	TOPMed
RAD51	Q06609	p.Ala11Gly	rs1286692919	missense variant	-	NC_000015.10:g.40698790C>G	gnomAD
RAD51	Q06609	p.Asp12Gly	rs1246018948	missense variant	-	NC_000015.10:g.40698793A>G	gnomAD
RAD51	Q06609	p.Asp12Asn	rs1362216112	missense variant	-	NC_000015.10:g.40698792G>A	TOPMed
RAD51	Q06609	p.Val15Glu	rs1159091605	missense variant	-	NC_000015.10:g.40698802T>A	TOPMed
RAD51	Q06609	p.Glu18Ter	rs1487695348	stop gained	-	NC_000015.10:g.40698810G>T	gnomAD
RAD51	Q06609	p.Ser19Gly	rs755132632	missense variant	-	NC_000015.10:g.40698813A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Gln23Arg	rs781383372	missense variant	-	NC_000015.10:g.40698826A>G	ExAC,gnomAD
RAD51	Q06609	p.Ile25Val	rs1200593832	missense variant	-	NC_000015.10:g.40698831A>G	TOPMed
RAD51	Q06609	p.Ser26Leu	rs1180753546	missense variant	-	NC_000015.10:g.40698835C>T	gnomAD
RAD51	Q06609	p.Arg27Gln	rs778132081	missense variant	-	NC_000015.10:g.40698838G>A	ExAC,gnomAD
RAD51	Q06609	p.Arg27Trp	rs756713380	missense variant	-	NC_000015.10:g.40698837C>T	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Glu29Gly	rs1489593050	missense variant	-	NC_000015.10:g.40698844A>G	TOPMed
RAD51	Q06609	p.Asn34Thr	rs751379027	missense variant	-	NC_000015.10:g.40701077A>C	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala35Thr	rs755292488	missense variant	-	NC_000015.10:g.40701079G>A	ExAC,gnomAD
RAD51	Q06609	p.Ala35Asp	rs377571591	missense variant	-	NC_000015.10:g.40701080C>A	ESP,TOPMed,gnomAD
RAD51	Q06609	p.Asp37Ala	rs756092232	missense variant	-	NC_000015.10:g.40701086A>C	ExAC,gnomAD
RAD51	Q06609	p.Asp37Asn	rs1428987216	missense variant	-	NC_000015.10:g.40701085G>A	gnomAD
RAD51	Q06609	p.Asp37Val	rs756092232	missense variant	-	NC_000015.10:g.40701086A>T	ExAC,gnomAD
RAD51	Q06609	p.Leu41Phe	rs757735432	missense variant	-	NC_000015.10:g.40701099G>T	ExAC,gnomAD
RAD51	Q06609	p.Glu42Ter	rs1302486714	stop gained	-	NC_000015.10:g.40701100G>T	gnomAD
RAD51	Q06609	p.Gly45Ala	rs779286806	missense variant	-	NC_000015.10:g.40701110G>C	ExAC,gnomAD
RAD51	Q06609	p.Phe46Cys	rs746224582	missense variant	-	NC_000015.10:g.40701113T>G	ExAC,gnomAD
RAD51	Q06609	p.Phe46Leu	rs1298742495	missense variant	-	NC_000015.10:g.40701114C>G	gnomAD
RAD51	Q06609	p.His47Arg	RCV000192085	missense variant	Mirror movements 2 (MRMV2)	NC_000015.10:g.40701116A>G	ClinVar
RAD51	Q06609	p.His47Arg	rs768411477	missense variant	-	NC_000015.10:g.40701116A>G	ExAC,gnomAD
RAD51	Q06609	p.Glu50Val	rs999567341	missense variant	-	NC_000015.10:g.40701125A>T	TOPMed
RAD51	Q06609	p.Val52Ile	rs747697371	missense variant	-	NC_000015.10:g.40701130G>A	ExAC,gnomAD
RAD51	Q06609	p.Ala53Thr	rs1313509498	missense variant	-	NC_000015.10:g.40701133G>A	gnomAD
RAD51	Q06609	p.Tyr54Cys	rs769146109	missense variant	-	NC_000015.10:g.40701137A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala55Val	rs145617142	missense variant	-	NC_000015.10:g.40701140C>T	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Pro56Ser	rs45623838	missense variant	-	NC_000015.10:g.40701142C>T	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Lys57Arg	rs1448625265	missense variant	-	NC_000015.10:g.40701146A>G	gnomAD
RAD51	Q06609	p.Asn62Asp	rs1371546291	missense variant	-	NC_000015.10:g.40701160A>G	TOPMed
RAD51	Q06609	p.Ile63Thr	rs531275069	missense variant	-	NC_000015.10:g.40701164T>C	1000Genomes,ExAC,gnomAD
RAD51	Q06609	p.Ile63Met	rs1427093630	missense variant	-	NC_000015.10:g.40701165T>G	gnomAD
RAD51	Q06609	p.Ser67Asn	rs1163399253	missense variant	-	NC_000015.10:g.40701176G>A	TOPMed
RAD51	Q06609	p.Ser67Ile	rs1163399253	missense variant	-	NC_000015.10:g.40701176G>T	TOPMed
RAD51	Q06609	p.Ala69Pro	rs143055953	missense variant	-	NC_000015.10:g.40701181G>C	ESP,TOPMed
RAD51	Q06609	p.Asp72Val	rs1164062003	missense variant	-	NC_000015.10:g.40701191A>T	TOPMed
RAD51	Q06609	p.Lys73Arg	rs1415120657	missense variant	-	NC_000015.10:g.40701194A>G	gnomAD
RAD51	Q06609	p.Glu77Gly	rs1218843632	missense variant	-	NC_000015.10:g.40706181A>G	gnomAD
RAD51	Q06609	p.Ala78Ser	rs1335853382	missense variant	-	NC_000015.10:g.40706183G>T	TOPMed,gnomAD
RAD51	Q06609	p.Ala79Val	rs146489542	missense variant	-	NC_000015.10:g.40706187C>T	1000Genomes,ExAC,gnomAD
RAD51	Q06609	p.Lys80Ile	rs751930241	missense variant	-	NC_000015.10:g.40706190A>T	ExAC,gnomAD
RAD51	Q06609	p.Lys80Glu	rs1312157762	missense variant	-	NC_000015.10:g.40706189A>G	TOPMed
RAD51	Q06609	p.Leu81Phe	rs1312603787	missense variant	-	NC_000015.10:g.40706194A>T	gnomAD
RAD51	Q06609	p.Val82Ile	rs1367039588	missense variant	-	NC_000015.10:g.40706195G>A	gnomAD
RAD51	Q06609	p.Met84Val	rs755778442	missense variant	-	NC_000015.10:g.40706201A>G	ExAC,gnomAD
RAD51	Q06609	p.Gly85Asp	rs777561646	missense variant	-	NC_000015.10:g.40706205G>A	ExAC,gnomAD
RAD51	Q06609	p.His93Tyr	rs748809229	missense variant	-	NC_000015.10:g.40706228C>T	ExAC
RAD51	Q06609	p.Gln94Glu	rs376382204	missense variant	-	NC_000015.10:g.40706231C>G	ESP,TOPMed,gnomAD
RAD51	Q06609	p.Arg96Trp	rs1013168760	missense variant	-	NC_000015.10:g.40706237C>T	TOPMed
RAD51	Q06609	p.Glu98Asp	rs1048716857	missense variant	-	NC_000015.10:g.40706245G>C	TOPMed
RAD51	Q06609	p.Gln101Glu	rs1279669649	missense variant	-	NC_000015.10:g.40706252C>G	gnomAD
RAD51	Q06609	p.Ile102Val	rs779012045	missense variant	-	NC_000015.10:g.40706255A>G	ExAC
RAD51	Q06609	p.Ile102Met	rs745749160	missense variant	-	NC_000015.10:g.40706257T>G	ExAC
RAD51	Q06609	p.Lys107Thr	rs1250316987	missense variant	-	NC_000015.10:g.40706271A>C	gnomAD
RAD51	Q06609	p.Glu108Gln	rs775210378	missense variant	-	NC_000015.10:g.40706273G>C	ExAC,gnomAD
RAD51	Q06609	p.Lys111Arg	rs760517215	missense variant	-	NC_000015.10:g.40706283A>G	ExAC,gnomAD
RAD51	Q06609	p.Leu112Ile	rs768873069	missense variant	-	NC_000015.10:g.40706285C>A	ExAC,gnomAD
RAD51	Q06609	p.Ile122Val	rs143362775	missense variant	-	NC_000015.10:g.40709045A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Met125Val	rs1388472001	missense variant	-	NC_000015.10:g.40709054A>G	gnomAD
RAD51	Q06609	p.Thr131Pro	VAR_076870	Missense	Fanconi anemia, complementation group R (FANCR) [MIM:617244]	-	UniProt
RAD51	Q06609	p.Ile136Phe	RCV000192086	missense variant	Mirror movements 2 (MRMV2)	NC_000015.10:g.40709087A>T	ClinVar
RAD51	Q06609	p.Ile136Phe	rs797044557	missense variant	-	NC_000015.10:g.40709087A>T	-
RAD51	Q06609	p.Thr139Met	rs148345609	missense variant	-	NC_000015.10:g.40709097C>T	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala141Ser	rs757033061	missense variant	-	NC_000015.10:g.40709102G>T	ExAC,gnomAD
RAD51	Q06609	p.Ala141Val	rs1259366727	missense variant	-	NC_000015.10:g.40709103C>T	gnomAD
RAD51	Q06609	p.Arg150Gln	RCV000014007	missense variant	Familial cancer of breast	NC_000015.10:g.40718818G>A	ClinVar
RAD51	Q06609	p.Arg150Gln	rs121917739	missense variant	-	NC_000015.10:g.40718818G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Arg150Gln	rs121917739	missense variant	Breast cancer (BC)	NC_000015.10:g.40718818G>A	UniProt,dbSNP
RAD51	Q06609	p.Arg150Gln	VAR_010899	missense variant	Breast cancer (BC)	NC_000015.10:g.40718818G>A	UniProt
RAD51	Q06609	p.Arg150Trp	rs1359302940	missense variant	-	NC_000015.10:g.40718817C>T	TOPMed
RAD51	Q06609	p.Gly151Ala	rs1015877091	missense variant	-	NC_000015.10:g.40718821G>C	TOPMed,gnomAD
RAD51	Q06609	p.Gly151Cys	rs1247974770	missense variant	-	NC_000015.10:g.40718820G>T	gnomAD
RAD51	Q06609	p.Gly153Asp	rs1187974177	missense variant	-	NC_000015.10:g.40718827G>A	gnomAD
RAD51	Q06609	p.Met158Thr	rs1440531742	missense variant	-	NC_000015.10:g.40718842T>C	gnomAD
RAD51	Q06609	p.Met158Ile	rs781102405	missense variant	-	NC_000015.10:g.40718843G>A	ExAC,gnomAD
RAD51	Q06609	p.Ile160Val	rs752492487	missense variant	-	NC_000015.10:g.40718847A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Gly164Val	rs1304358961	missense variant	-	NC_000015.10:g.40718860G>T	TOPMed,gnomAD
RAD51	Q06609	p.Val174Met	rs1381595625	missense variant	-	NC_000015.10:g.40718889G>A	TOPMed,gnomAD
RAD51	Q06609	p.Tyr178Cys	rs779214128	missense variant	-	NC_000015.10:g.40728713A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Gly179Ser	rs772233325	missense variant	-	NC_000015.10:g.40728715G>A	ExAC,gnomAD
RAD51	Q06609	p.Gly179Asp	rs913824562	missense variant	-	NC_000015.10:g.40728716G>A	gnomAD
RAD51	Q06609	p.Leu180Val	rs1210342872	missense variant	-	NC_000015.10:g.40728718C>G	gnomAD
RAD51	Q06609	p.Asp187Gly	rs769021479	missense variant	-	NC_000015.10:g.40728740A>G	ExAC,gnomAD
RAD51	Q06609	p.Thr201Ala	rs1321607563	missense variant	-	NC_000015.10:g.40728781A>G	gnomAD
RAD51	Q06609	p.Gln202Arg	rs1468791932	missense variant	-	NC_000015.10:g.40728785A>G	TOPMed
RAD51	Q06609	p.Gln202Lys	rs773933143	missense variant	-	NC_000015.10:g.40728784C>A	ExAC,gnomAD
RAD51	Q06609	p.Tyr205His	RCV000499921	missense variant	-	NC_000015.10:g.40728793T>C	ClinVar
RAD51	Q06609	p.Tyr205His	rs1555429486	missense variant	-	NC_000015.10:g.40728793T>C	-
RAD51	Q06609	p.Gln206Glu	rs759067637	missense variant	-	NC_000015.10:g.40728796C>G	ExAC,gnomAD
RAD51	Q06609	p.Ala209Thr	rs1470830931	missense variant	-	NC_000015.10:g.40728805G>A	gnomAD
RAD51	Q06609	p.Met210Ile	rs1049055390	missense variant	-	NC_000015.10:g.40728810G>C	TOPMed,gnomAD
RAD51	Q06609	p.Val212Ala	rs1223584622	missense variant	-	NC_000015.10:g.40728815T>C	TOPMed,gnomAD
RAD51	Q06609	p.Tyr216His	rs776385951	missense variant	-	NC_000015.10:g.40729506T>C	ExAC,gnomAD
RAD51	Q06609	p.Val221Ile	rs1010252308	missense variant	-	NC_000015.10:g.40729521G>A	TOPMed,gnomAD
RAD51	Q06609	p.Asp222Gly	rs1332437837	missense variant	-	NC_000015.10:g.40729525A>G	gnomAD
RAD51	Q06609	p.Ala224Gly	rs142701178	missense variant	-	NC_000015.10:g.40729531C>G	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala226Thr	rs1249471221	missense variant	-	NC_000015.10:g.40729536G>A	TOPMed
RAD51	Q06609	p.Ser233Trp	rs751662795	missense variant	-	NC_000015.10:g.40729558C>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ser233Leu	rs751662795	missense variant	-	NC_000015.10:g.40729558C>T	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Met243Val	rs1196348842	missense variant	-	NC_000015.10:g.40729587A>G	gnomAD
RAD51	Q06609	p.Ala246Ser	rs1249286135	missense variant	-	NC_000015.10:g.40729596G>T	gnomAD
RAD51	Q06609	p.Arg247Lys	rs1329200373	missense variant	-	NC_000015.10:g.40729600G>A	gnomAD
RAD51	Q06609	p.Arg250Gln	rs1555429623	missense variant	Mirror movements 2 (mrmv2)	NC_000015.10:g.40729609G>A	-
RAD51	Q06609	p.Arg250Gln	RCV000542570	missense variant	Mirror movements 2 (MRMV2)	NC_000015.10:g.40729609G>A	ClinVar
RAD51	Q06609	p.Leu252Ile	rs1015133204	missense variant	-	NC_000015.10:g.40729614C>A	TOPMed
RAD51	Q06609	p.Leu253Arg	rs376436790	missense variant	-	NC_000015.10:g.40729618T>G	ESP
RAD51	Q06609	p.Arg254Ter	RCV000022747	nonsense	Mirror movements 2 (MRMV2)	NC_000015.10:g.40729620C>T	ClinVar
RAD51	Q06609	p.Arg254Ter	rs199925463	stop gained	Mirror movements 2 (mrmv2)	NC_000015.10:g.40729620C>T	TOPMed,gnomAD
RAD51	Q06609	p.Arg254Gln	rs371150683	missense variant	-	NC_000015.10:g.40729621G>A	ESP,ExAC,gnomAD
RAD51	Q06609	p.Ala256Thr	rs374507935	missense variant	-	NC_000015.10:g.40729626G>A	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Glu258Lys	RCV000626039	missense variant	Fanconi anemia, complementation group R (FANCR)	NC_000015.10:g.40729632G>A	ClinVar
RAD51	Q06609	p.Glu258Lys	rs1555429629	missense variant	-	NC_000015.10:g.40729632G>A	-
RAD51	Q06609	p.Glu258Ala	rs191297852	missense variant	-	NC_000015.10:g.40729633A>C	1000Genomes,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ile265Met	rs1202149010	missense variant	-	NC_000015.10:g.40729873C>G	TOPMed,gnomAD
RAD51	Q06609	p.Val273Ala	rs1006483116	missense variant	-	NC_000015.10:g.40729896T>C	TOPMed
RAD51	Q06609	p.Asp274Gly	rs1372266851	missense variant	-	NC_000015.10:g.40729899A>G	TOPMed
RAD51	Q06609	p.Ala276Thr	rs1297305918	missense variant	-	NC_000015.10:g.40729904G>A	TOPMed
RAD51	Q06609	p.Ala277Val	rs532630164	missense variant	-	NC_000015.10:g.40729908C>T	1000Genomes,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Met278Val	rs760678101	missense variant	-	NC_000015.10:g.40729910A>G	ExAC,gnomAD
RAD51	Q06609	p.Ala281Ser	rs764611353	missense variant	-	NC_000015.10:g.40729919G>T	ExAC,gnomAD
RAD51	Q06609	p.Pro283Ser	rs1353527989	missense variant	-	NC_000015.10:g.40729925C>T	TOPMed,gnomAD
RAD51	Q06609	p.Lys284Arg	rs754306806	missense variant	-	NC_000015.10:g.40729929A>G	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Pro286Leu	RCV000522398	missense variant	-	NC_000015.10:g.40729935C>T	ClinVar
RAD51	Q06609	p.Pro286Ter	RCV000022748	frameshift	Mirror movements 2 (MRMV2)	NC_000015.10:g.40729933dup	ClinVar
RAD51	Q06609	p.Pro286Leu	rs1555429670	missense variant	-	NC_000015.10:g.40729935C>T	-
RAD51	Q06609	p.Ile287Val	rs1429537575	missense variant	-	NC_000015.10:g.40729937A>G	TOPMed,gnomAD
RAD51	Q06609	p.Ile287Thr	rs757733241	missense variant	-	NC_000015.10:g.40729938T>C	ExAC,gnomAD
RAD51	Q06609	p.Ala293Thr	RCV000412566	missense variant	Fanconi anemia, complementation group R (FANCR)	NC_000015.10:g.40729955G>A	ClinVar
RAD51	Q06609	p.Ala293Thr	RCV000622620	missense variant	Inborn genetic diseases	NC_000015.10:g.40729955G>A	ClinVar
RAD51	Q06609	p.Ala293Thr	rs1057519413	missense variant	-	NC_000015.10:g.40729955G>A	-
RAD51	Q06609	p.Tyr301Cys	rs1386249322	missense variant	-	NC_000015.10:g.40731060A>G	TOPMed
RAD51	Q06609	p.Gly307Ala	rs762285836	missense variant	-	NC_000015.10:g.40731078G>C	ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Lys313Arg	rs767097377	missense variant	-	NC_000015.10:g.40731096A>G	ExAC,gnomAD
RAD51	Q06609	p.Met326Ile	rs374679595	missense variant	-	NC_000015.10:g.40731136G>A	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Met326Val	rs755797075	missense variant	-	NC_000015.10:g.40731134A>G	ExAC,gnomAD
RAD51	Q06609	p.Ala328Ser	rs367685211	missense variant	-	NC_000015.10:g.40731140G>T	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Ala328Thr	rs367685211	missense variant	-	NC_000015.10:g.40731140G>A	ESP,ExAC,TOPMed,gnomAD
RAD51	Q06609	p.Asp332His	rs1263727210	missense variant	-	NC_000015.10:g.40731152G>C	TOPMed
RAD51	Q06609	p.Asp339His	rs1391217140	missense variant	-	NC_000015.10:g.40731173G>C	gnomAD
RAD51	Q06609	p.Ter340Arg	rs1484599682	stop lost	-	NC_000015.10:g.40731176T>C	TOPMed
DLX2	Q07687	p.Asp6Glu	rs1355995522	missense variant	-	NC_000002.12:g.172102521G>T	TOPMed
DLX2	Q07687	p.Ser7Asn	rs753039823	missense variant	-	NC_000002.12:g.172102519C>T	ExAC,gnomAD
DLX2	Q07687	p.Val9Ala	rs1443105301	missense variant	-	NC_000002.12:g.172102513A>G	gnomAD
DLX2	Q07687	p.Ser14Leu	COSM1482186	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172102498G>A	NCI-TCGA Cosmic
DLX2	Q07687	p.Thr15Asn	rs893585790	missense variant	-	NC_000002.12:g.172102495G>T	gnomAD
DLX2	Q07687	p.Ala18Thr	rs1292781921	missense variant	-	NC_000002.12:g.172102487C>T	TOPMed
DLX2	Q07687	p.Ala19Ser	rs1328713997	missense variant	-	NC_000002.12:g.172102484C>A	gnomAD
DLX2	Q07687	p.Ser21Arg	rs1227544646	missense variant	-	NC_000002.12:g.172102478T>G	TOPMed
DLX2	Q07687	p.Thr22Met	rs1422322241	missense variant	-	NC_000002.12:g.172102474G>A	gnomAD
DLX2	Q07687	p.Tyr23His	rs767804470	missense variant	-	NC_000002.12:g.172102472A>G	ExAC,gnomAD
DLX2	Q07687	p.Gln25His	rs1195115949	missense variant	-	NC_000002.12:g.172102464C>A	TOPMed,gnomAD
DLX2	Q07687	p.Gln25His	rs1195115949	missense variant	-	NC_000002.12:g.172102464C>G	TOPMed,gnomAD
DLX2	Q07687	p.Gln25Arg	rs760065647	missense variant	-	NC_000002.12:g.172102465T>C	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.His26Tyr	rs1468496097	missense variant	-	NC_000002.12:g.172102463G>A	gnomAD
DLX2	Q07687	p.Pro29Leu	rs1202310127	missense variant	-	NC_000002.12:g.172102453G>A	gnomAD
DLX2	Q07687	p.Pro30ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.172102450G>-	NCI-TCGA
DLX2	Q07687	p.Pro30Thr	rs928131621	missense variant	-	NC_000002.12:g.172102451G>T	TOPMed,gnomAD
DLX2	Q07687	p.Pro30Ser	rs928131621	missense variant	-	NC_000002.12:g.172102451G>A	TOPMed,gnomAD
DLX2	Q07687	p.Ser31Asn	rs1233281377	missense variant	-	NC_000002.12:g.172102447C>T	gnomAD
DLX2	Q07687	p.Ser31Arg	rs1345469741	missense variant	-	NC_000002.12:g.172102446G>T	gnomAD
DLX2	Q07687	p.Gly32Ser	rs1189302391	missense variant	-	NC_000002.12:g.172102445C>T	TOPMed
DLX2	Q07687	p.Gly33Arg	rs1236798470	missense variant	-	NC_000002.12:g.172102442C>G	gnomAD
DLX2	Q07687	p.Gly34Cys	rs996627276	missense variant	-	NC_000002.12:g.172102439C>A	TOPMed,gnomAD
DLX2	Q07687	p.Gly34Ser	rs996627276	missense variant	-	NC_000002.12:g.172102439C>T	TOPMed,gnomAD
DLX2	Q07687	p.Pro37Arg	rs1440177276	missense variant	-	NC_000002.12:g.172102429G>C	gnomAD
DLX2	Q07687	p.Pro37Gln	rs1440177276	missense variant	-	NC_000002.12:g.172102429G>T	gnomAD
DLX2	Q07687	p.Gly38Ser	rs202221844	missense variant	-	NC_000002.12:g.172102427C>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Asn40Lys	rs535876691	missense variant	-	NC_000002.12:g.172102419G>T	1000Genomes,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ser41Gly	rs1175079445	missense variant	-	NC_000002.12:g.172102418T>C	gnomAD
DLX2	Q07687	p.Ser42Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102414C>T	NCI-TCGA
DLX2	Q07687	p.Ser43Gly	rs1406848525	missense variant	-	NC_000002.12:g.172102412T>C	gnomAD
DLX2	Q07687	p.Ser44Ile	rs1364001982	missense variant	-	NC_000002.12:g.172102408C>A	TOPMed
DLX2	Q07687	p.Pro50His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102390G>T	NCI-TCGA
DLX2	Q07687	p.Pro50Ser	rs1470915292	missense variant	-	NC_000002.12:g.172102391G>A	TOPMed,gnomAD
DLX2	Q07687	p.Ser53Pro	rs1215538707	missense variant	-	NC_000002.12:g.172102382A>G	TOPMed
DLX2	Q07687	p.Ser53Leu	rs1259420868	missense variant	-	NC_000002.12:g.172102381G>A	TOPMed
DLX2	Q07687	p.Thr55Pro	rs568536219	missense variant	-	NC_000002.12:g.172102376T>G	1000Genomes
DLX2	Q07687	p.Thr55Ser	rs1211380790	missense variant	-	NC_000002.12:g.172102375G>C	gnomAD
DLX2	Q07687	p.Ser59Pro	rs1171574624	missense variant	-	NC_000002.12:g.172102364A>G	TOPMed,gnomAD
DLX2	Q07687	p.Ala61Thr	rs762049835	missense variant	-	NC_000002.12:g.172102358C>T	ExAC,gnomAD
DLX2	Q07687	p.Ala61Val	rs775302449	missense variant	-	NC_000002.12:g.172102357G>A	ExAC,gnomAD
DLX2	Q07687	p.Asp63Asn	rs1414740291	missense variant	-	NC_000002.12:g.172102352C>T	gnomAD
DLX2	Q07687	p.Ser64Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102348C>T	NCI-TCGA
DLX2	Q07687	p.Tyr66Phe	rs1353914567	missense variant	-	NC_000002.12:g.172102342T>A	gnomAD
DLX2	Q07687	p.Tyr67Cys	COSM1009574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172102339T>C	NCI-TCGA Cosmic
DLX2	Q07687	p.Asn69Asp	rs1238786067	missense variant	-	NC_000002.12:g.172102334T>C	gnomAD
DLX2	Q07687	p.Gln70Lys	rs556631927	missense variant	-	NC_000002.12:g.172102331G>T	1000Genomes,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro73Leu	rs778786016	missense variant	-	NC_000002.12:g.172102321G>A	ExAC,gnomAD
DLX2	Q07687	p.Ala74Val	rs148753457	missense variant	-	NC_000002.12:g.172102318G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gly77Asp	rs1259588647	missense variant	-	NC_000002.12:g.172102309C>T	gnomAD
DLX2	Q07687	p.Gly79Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102303C>T	NCI-TCGA
DLX2	Q07687	p.Gly79Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102303C>G	NCI-TCGA
DLX2	Q07687	p.Gly79Ser	rs1188375974	missense variant	-	NC_000002.12:g.172102304C>T	gnomAD
DLX2	Q07687	p.Gly80Arg	rs1485461137	missense variant	-	NC_000002.12:g.172102301C>T	gnomAD
DLX2	Q07687	p.Gly81Ser	rs1241676832	missense variant	-	NC_000002.12:g.172102298C>T	gnomAD
DLX2	Q07687	p.Gly81Asp	rs781589723	missense variant	-	NC_000002.12:g.172102297C>T	ExAC,gnomAD
DLX2	Q07687	p.Ser82Leu	rs1457752592	missense variant	-	NC_000002.12:g.172102294G>A	TOPMed
DLX2	Q07687	p.Pro83Ala	rs963693630	missense variant	-	NC_000002.12:g.172102292G>C	TOPMed,gnomAD
DLX2	Q07687	p.Tyr84Cys	rs570628974	missense variant	-	NC_000002.12:g.172102288T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ala85Ser	rs552134336	missense variant	-	NC_000002.12:g.172102286C>A	1000Genomes
DLX2	Q07687	p.Met87Leu	rs566464055	missense variant	-	NC_000002.12:g.172102280T>A	1000Genomes,ExAC,gnomAD
DLX2	Q07687	p.Met87Ile	rs1347605817	missense variant	-	NC_000002.12:g.172102278C>T	gnomAD
DLX2	Q07687	p.Met87Val	rs566464055	missense variant	-	NC_000002.12:g.172102280T>C	1000Genomes,ExAC,gnomAD
DLX2	Q07687	p.Gly88Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102277C>A	NCI-TCGA
DLX2	Q07687	p.Gly88Arg	rs149546596	missense variant	-	NC_000002.12:g.172102277C>G	ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gly88Val	rs765319733	missense variant	-	NC_000002.12:g.172102276C>A	ExAC
DLX2	Q07687	p.Gly88Ser	rs149546596	missense variant	-	NC_000002.12:g.172102277C>T	ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Tyr90His	rs1319226097	missense variant	-	NC_000002.12:g.172102271A>G	TOPMed
DLX2	Q07687	p.Gln91His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102266C>G	NCI-TCGA
DLX2	Q07687	p.Gln91Glu	rs762068836	missense variant	-	NC_000002.12:g.172102268G>C	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gln91Arg	rs150778661	missense variant	-	NC_000002.12:g.172102267T>C	ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gln91Lys	rs762068836	missense variant	-	NC_000002.12:g.172102268G>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gln93Lys	rs138602104	missense variant	-	NC_000002.12:g.172102262G>T	ESP,TOPMed
DLX2	Q07687	p.Gln93Arg	rs750199207	missense variant	-	NC_000002.12:g.172102261T>C	TOPMed,gnomAD
DLX2	Q07687	p.Ala94Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102259C>T	NCI-TCGA
DLX2	Q07687	p.Ser95Arg	rs759310365	missense variant	-	NC_000002.12:g.172102254G>T	ExAC,gnomAD
DLX2	Q07687	p.Gly96Cys	rs997972261	missense variant	-	NC_000002.12:g.172102253C>A	TOPMed,gnomAD
DLX2	Q07687	p.Gly96Val	rs547762809	missense variant	-	NC_000002.12:g.172102252C>A	1000Genomes,ExAC,gnomAD
DLX2	Q07687	p.Leu97Pro	COSM1401287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172102249A>G	NCI-TCGA Cosmic
DLX2	Q07687	p.Asn98Ser	rs1259428215	missense variant	-	NC_000002.12:g.172102246T>C	TOPMed,gnomAD
DLX2	Q07687	p.Asn98Ile	rs1259428215	missense variant	-	NC_000002.12:g.172102246T>A	TOPMed,gnomAD
DLX2	Q07687	p.Asn99Lys	rs1486955594	missense variant	-	NC_000002.12:g.172102242G>T	gnomAD
DLX2	Q07687	p.Val100Asp	rs1248937877	missense variant	-	NC_000002.12:g.172102240A>T	gnomAD
DLX2	Q07687	p.Tyr102Cys	rs770927432	missense variant	-	NC_000002.12:g.172102234T>C	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ser103Pro	rs201185401	missense variant	-	NC_000002.12:g.172102232A>G	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ala104Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102228G>A	NCI-TCGA
DLX2	Q07687	p.Lys105Asn	rs142362355	missense variant	-	NC_000002.12:g.172102224C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Lys105Arg	rs1307238251	missense variant	-	NC_000002.12:g.172102225T>C	gnomAD
DLX2	Q07687	p.Ser106Thr	rs1216739922	missense variant	-	NC_000002.12:g.172102222C>G	gnomAD
DLX2	Q07687	p.Ser106Arg	rs747832022	missense variant	-	NC_000002.12:g.172102221G>T	ExAC,gnomAD
DLX2	Q07687	p.Ser107Cys	rs1324883723	missense variant	-	NC_000002.12:g.172102220T>A	TOPMed,gnomAD
DLX2	Q07687	p.Ser107Asn	rs1437996447	missense variant	-	NC_000002.12:g.172102219C>T	gnomAD
DLX2	Q07687	p.Asp109Asn	rs1015299543	missense variant	-	NC_000002.12:g.172102214C>T	TOPMed,gnomAD
DLX2	Q07687	p.Asp109His	rs1015299543	missense variant	-	NC_000002.12:g.172102214C>G	TOPMed,gnomAD
DLX2	Q07687	p.Leu110Met	rs1296777988	missense variant	-	NC_000002.12:g.172102211G>T	TOPMed
DLX2	Q07687	p.Gly111Asp	rs780764135	missense variant	-	NC_000002.12:g.172102207C>T	ExAC,gnomAD
DLX2	Q07687	p.Tyr112Phe	rs1293992646	missense variant	-	NC_000002.12:g.172102204T>A	TOPMed,gnomAD
DLX2	Q07687	p.Tyr112Cys	rs1293992646	missense variant	-	NC_000002.12:g.172102204T>C	TOPMed,gnomAD
DLX2	Q07687	p.Ala114Ser	rs1333337557	missense variant	-	NC_000002.12:g.172102199C>A	TOPMed
DLX2	Q07687	p.Ala114Gly	rs747267616	missense variant	-	NC_000002.12:g.172102198G>C	ExAC,gnomAD
DLX2	Q07687	p.Ala115Val	rs1230095524	missense variant	-	NC_000002.12:g.172102195G>A	TOPMed
DLX2	Q07687	p.Thr117Asn	rs550662278	missense variant	-	NC_000002.12:g.172102189G>T	1000Genomes,ExAC,gnomAD
DLX2	Q07687	p.Ser118Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172102186G>A	NCI-TCGA
DLX2	Q07687	p.Tyr122Asp	rs1290749169	missense variant	-	NC_000002.12:g.172102175A>C	TOPMed
DLX2	Q07687	p.Tyr122Phe	rs1254993513	missense variant	-	NC_000002.12:g.172102174T>A	gnomAD
DLX2	Q07687	p.Thr124Ala	rs764167235	missense variant	-	NC_000002.12:g.172102169T>C	ExAC,gnomAD
DLX2	Q07687	p.Thr124Asn	rs1250183401	missense variant	-	NC_000002.12:g.172102168G>T	TOPMed,gnomAD
DLX2	Q07687	p.Ser125Ile	rs201345810	missense variant	-	NC_000002.12:g.172102165C>A	1000Genomes,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ser126Leu	rs1343325746	missense variant	-	NC_000002.12:g.172102162G>A	gnomAD
DLX2	Q07687	p.Asn130Ser	rs766299353	missense variant	-	NC_000002.12:g.172102150T>C	ExAC,gnomAD
DLX2	Q07687	p.Asn131Ser	COSM1009573	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172102147T>C	NCI-TCGA Cosmic
DLX2	Q07687	p.Asn131Ile	rs762962850	missense variant	-	NC_000002.12:g.172102147T>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Asn131Lys	rs1310690123	missense variant	-	NC_000002.12:g.172102146G>T	gnomAD
DLX2	Q07687	p.Glu132Lys	rs773349011	missense variant	-	NC_000002.12:g.172102145C>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro133Ala	rs769414506	missense variant	-	NC_000002.12:g.172102142G>C	ExAC,gnomAD
DLX2	Q07687	p.Pro133Leu	rs747551701	missense variant	-	NC_000002.12:g.172102141G>A	ExAC,gnomAD
DLX2	Q07687	p.Glu134Gly	rs761631645	missense variant	-	NC_000002.12:g.172101646T>C	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Glu134Val	rs761631645	missense variant	-	NC_000002.12:g.172101646T>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Glu136Lys	COSM3570018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172101641C>T	NCI-TCGA Cosmic
DLX2	Q07687	p.Pro140Ser	rs763503263	missense variant	-	NC_000002.12:g.172101629G>A	ExAC,gnomAD
DLX2	Q07687	p.Arg143Gln	rs760240559	missense variant	-	NC_000002.12:g.172101619C>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ile144Met	rs1291434871	missense variant	-	NC_000002.12:g.172101615T>C	gnomAD
DLX2	Q07687	p.Ile144Arg	rs564867492	missense variant	-	NC_000002.12:g.172101616A>C	1000Genomes,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gly147Arg	rs200908537	missense variant	-	NC_000002.12:g.172101608C>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro149Leu	rs774531942	missense variant	-	NC_000002.12:g.172101601G>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro149Ser	rs759220896	missense variant	-	NC_000002.12:g.172101602G>A	ExAC,gnomAD
DLX2	Q07687	p.Val152Ile	rs1412906164	missense variant	-	NC_000002.12:g.172101593C>T	TOPMed
DLX2	Q07687	p.Pro155Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172101584G>T	NCI-TCGA
DLX2	Q07687	p.Arg156Cys	rs771378355	missense variant	-	NC_000002.12:g.172101581G>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Arg156Ser	rs771378355	missense variant	-	NC_000002.12:g.172101581G>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Arg156His	rs1383128488	missense variant	-	NC_000002.12:g.172101580C>T	gnomAD
DLX2	Q07687	p.Ile158Ser	COSM6088353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172101574A>C	NCI-TCGA Cosmic
DLX2	Q07687	p.Tyr159Cys	rs1457892507	missense variant	-	NC_000002.12:g.172101571T>C	gnomAD
DLX2	Q07687	p.Ser160Phe	rs1417773141	missense variant	-	NC_000002.12:g.172101568G>A	gnomAD
DLX2	Q07687	p.Gln168Arg	rs1192965415	missense variant	-	NC_000002.12:g.172101544T>C	gnomAD
DLX2	Q07687	p.Leu179Phe	rs755198514	missense variant	-	NC_000002.12:g.172101510C>A	ExAC,TOPMed
DLX2	Q07687	p.Pro180Leu	rs1271131667	missense variant	-	NC_000002.12:g.172101508G>A	gnomAD
DLX2	Q07687	p.Pro180Ser	rs1467643680	missense variant	-	NC_000002.12:g.172101509G>A	gnomAD
DLX2	Q07687	p.Glu181Asp	rs1229980856	missense variant	-	NC_000002.12:g.172101504C>G	gnomAD
DLX2	Q07687	p.Arg182Gly	rs747280528	missense variant	-	NC_000002.12:g.172101503G>C	ExAC
DLX2	Q07687	p.Ala183Ser	rs1356740203	missense variant	-	NC_000002.12:g.172101500C>A	gnomAD
DLX2	Q07687	p.Ser188Phe	rs1225034144	missense variant	-	NC_000002.12:g.172101484G>A	gnomAD
DLX2	Q07687	p.Gly190Ala	rs1322885838	missense variant	-	NC_000002.12:g.172101478C>G	gnomAD
DLX2	Q07687	p.Gly190Ser	rs1324898063	missense variant	-	NC_000002.12:g.172101479C>T	gnomAD
DLX2	Q07687	p.Leu191Ile	rs1485612982	missense variant	-	NC_000002.12:g.172101476G>T	TOPMed
DLX2	Q07687	p.Gln193His	COSM1009572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172101468C>A	NCI-TCGA Cosmic
DLX2	Q07687	p.Val196Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172100943A>C	NCI-TCGA
DLX2	Q07687	p.Asn202Thr	rs1352907453	missense variant	-	NC_000002.12:g.172100925T>G	gnomAD
DLX2	Q07687	p.Arg203Leu	rs765989902	missense variant	-	NC_000002.12:g.172100922C>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Arg203His	rs765989902	missense variant	-	NC_000002.12:g.172100922C>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Arg204Trp	rs1414617008	missense variant	-	NC_000002.12:g.172100920G>A	gnomAD
DLX2	Q07687	p.Met210Thr	rs1372752408	missense variant	-	NC_000002.12:g.172100901A>G	TOPMed
DLX2	Q07687	p.Met210Ile	rs762543150	missense variant	-	NC_000002.12:g.172100900C>T	ExAC,gnomAD
DLX2	Q07687	p.Trp211Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.172100898C>T	NCI-TCGA
DLX2	Q07687	p.Trp211Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172100898C>A	NCI-TCGA
DLX2	Q07687	p.Lys212Arg	rs780166978	missense variant	-	NC_000002.12:g.172100895T>C	TOPMed,gnomAD
DLX2	Q07687	p.Lys212Ile	rs780166978	missense variant	-	NC_000002.12:g.172100895T>A	TOPMed,gnomAD
DLX2	Q07687	p.Lys212Glu	rs1414488611	missense variant	-	NC_000002.12:g.172100896T>C	TOPMed,gnomAD
DLX2	Q07687	p.Ser213Asn	rs765743540	missense variant	-	NC_000002.12:g.172100892C>T	ExAC,gnomAD
DLX2	Q07687	p.Ser213Thr	rs765743540	missense variant	-	NC_000002.12:g.172100892C>G	ExAC,gnomAD
DLX2	Q07687	p.Gly214Cys	rs1473516855	missense variant	-	NC_000002.12:g.172100890C>A	TOPMed,gnomAD
DLX2	Q07687	p.Gly214Arg	rs1473516855	missense variant	-	NC_000002.12:g.172100890C>G	TOPMed,gnomAD
DLX2	Q07687	p.Gly214Ser	rs1473516855	missense variant	-	NC_000002.12:g.172100890C>T	TOPMed,gnomAD
DLX2	Q07687	p.Glu215Asp	COSM6154741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100885C>G	NCI-TCGA Cosmic
DLX2	Q07687	p.Pro217Ser	rs768839855	missense variant	-	NC_000002.12:g.172100881G>A	ExAC,gnomAD
DLX2	Q07687	p.Pro217Leu	rs760753513	missense variant	-	NC_000002.12:g.172100880G>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro217Ala	rs768839855	missense variant	-	NC_000002.12:g.172100881G>C	ExAC,gnomAD
DLX2	Q07687	p.Ser218Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172100878A>C	NCI-TCGA
DLX2	Q07687	p.Glu219Gln	rs1235886408	missense variant	-	NC_000002.12:g.172100875C>G	gnomAD
DLX2	Q07687	p.His221Gln	COSM6088355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100867G>T	NCI-TCGA Cosmic
DLX2	Q07687	p.His221Tyr	rs554400639	missense variant	-	NC_000002.12:g.172100869G>A	1000Genomes,ExAC,gnomAD
DLX2	Q07687	p.Pro222Arg	rs772300299	missense variant	-	NC_000002.12:g.172100865G>C	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ala224Thr	rs151259959	missense variant	-	NC_000002.12:g.172100860C>T	ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ala224Gly	rs777523240	missense variant	-	NC_000002.12:g.172100859G>C	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ser225Arg	rs748076206	missense variant	-	NC_000002.12:g.172100855G>T	ExAC,gnomAD
DLX2	Q07687	p.Ser225Gly	rs769618009	missense variant	-	NC_000002.12:g.172100857T>C	ExAC,gnomAD
DLX2	Q07687	p.Ala226Thr	COSM3425459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100854C>T	NCI-TCGA Cosmic
DLX2	Q07687	p.Ser227Phe	rs1232987684	missense variant	-	NC_000002.12:g.172100850G>A	gnomAD
DLX2	Q07687	p.Pro229Ser	rs1304175708	missense variant	-	NC_000002.12:g.172100845G>A	gnomAD
DLX2	Q07687	p.Cys230Tyr	rs1448345918	missense variant	-	NC_000002.12:g.172100841C>T	gnomAD
DLX2	Q07687	p.Cys230Phe	rs1448345918	missense variant	-	NC_000002.12:g.172100841C>A	gnomAD
DLX2	Q07687	p.Cys230Arg	rs1445628753	missense variant	-	NC_000002.12:g.172100842A>G	gnomAD
DLX2	Q07687	p.Pro233Ser	rs1317937931	missense variant	-	NC_000002.12:g.172100833G>A	TOPMed,gnomAD
DLX2	Q07687	p.Pro234Leu	rs1276416481	missense variant	-	NC_000002.12:g.172100829G>A	TOPMed
DLX2	Q07687	p.Ser236Ter	COSM717728	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.172100823G>T	NCI-TCGA Cosmic
DLX2	Q07687	p.Ser236Pro	rs1001589175	missense variant	-	NC_000002.12:g.172100824A>G	TOPMed
DLX2	Q07687	p.Ala237Gly	rs1458417247	missense variant	-	NC_000002.12:g.172100820G>C	gnomAD
DLX2	Q07687	p.Pro238Leu	COSM4086780	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100817G>A	NCI-TCGA Cosmic
DLX2	Q07687	p.Ala239Thr	rs200710841	missense variant	-	NC_000002.12:g.172100815C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Trp241Leu	rs1474074639	missense variant	-	NC_000002.12:g.172100808C>A	TOPMed,gnomAD
DLX2	Q07687	p.Trp241Ter	rs1474074639	stop gained	-	NC_000002.12:g.172100808C>T	TOPMed,gnomAD
DLX2	Q07687	p.Pro246Arg	rs373016866	missense variant	-	NC_000002.12:g.172100793G>C	ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro246Leu	rs373016866	missense variant	-	NC_000002.12:g.172100793G>A	ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro246Gln	rs373016866	missense variant	-	NC_000002.12:g.172100793G>T	ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gln247Lys	rs1450406295	missense variant	-	NC_000002.12:g.172100791G>T	TOPMed
DLX2	Q07687	p.Gln247Pro	rs750079574	missense variant	-	NC_000002.12:g.172100790T>G	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Arg248Leu	rs765688493	missense variant	-	NC_000002.12:g.172100787C>A	ExAC,gnomAD
DLX2	Q07687	p.Arg248Pro	rs765688493	missense variant	-	NC_000002.12:g.172100787C>G	ExAC,gnomAD
DLX2	Q07687	p.Met249Leu	rs1233259593	missense variant	-	NC_000002.12:g.172100785T>A	gnomAD
DLX2	Q07687	p.Ala250Val	rs1320255827	missense variant	-	NC_000002.12:g.172100781G>A	gnomAD
DLX2	Q07687	p.Ala250Ser	rs569101497	missense variant	-	NC_000002.12:g.172100782C>A	1000Genomes
DLX2	Q07687	p.Gly251Val	rs550538048	missense variant	-	NC_000002.12:g.172100778C>A	1000Genomes,ExAC,gnomAD
DLX2	Q07687	p.Gly252Ser	rs1295035593	missense variant	-	NC_000002.12:g.172100776C>T	gnomAD
DLX2	Q07687	p.Gly253Cys	rs775594803	missense variant	-	NC_000002.12:g.172100773C>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gly253Ser	rs775594803	missense variant	-	NC_000002.12:g.172100773C>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro255Ala	rs772095698	missense variant	-	NC_000002.12:g.172100767G>C	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro255Arg	rs1325103506	missense variant	-	NC_000002.12:g.172100766G>C	TOPMed,gnomAD
DLX2	Q07687	p.Pro255Leu	rs1325103506	missense variant	-	NC_000002.12:g.172100766G>A	TOPMed,gnomAD
DLX2	Q07687	p.Pro255Ser	rs772095698	missense variant	-	NC_000002.12:g.172100767G>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro255Gln	rs1325103506	missense variant	-	NC_000002.12:g.172100766G>T	TOPMed,gnomAD
DLX2	Q07687	p.Gly256Ser	rs759773339	missense variant	-	NC_000002.12:g.172100764C>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ser257Asn	rs1427706743	missense variant	-	NC_000002.12:g.172100760C>T	TOPMed,gnomAD
DLX2	Q07687	p.Gly261Ser	rs1210059852	missense variant	-	NC_000002.12:g.172100749C>T	TOPMed
DLX2	Q07687	p.Ala262Thr	rs1186970583	missense variant	-	NC_000002.12:g.172100746C>T	TOPMed,gnomAD
DLX2	Q07687	p.Ala262Pro	rs1186970583	missense variant	-	NC_000002.12:g.172100746C>G	TOPMed,gnomAD
DLX2	Q07687	p.Gly263Arg	rs538274009	missense variant	-	NC_000002.12:g.172100743C>G	1000Genomes,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gly263Cys	rs538274009	missense variant	-	NC_000002.12:g.172100743C>A	1000Genomes,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gly263Ser	rs538274009	missense variant	-	NC_000002.12:g.172100743C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ser264Ile	rs747881738	missense variant	-	NC_000002.12:g.172100739C>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gly266Ser	rs780994188	missense variant	-	NC_000002.12:g.172100734C>T	ExAC,gnomAD
DLX2	Q07687	p.Gly266Ala	rs994949088	missense variant	-	NC_000002.12:g.172100733C>G	TOPMed,gnomAD
DLX2	Q07687	p.Pro269Arg	rs768589495	missense variant	-	NC_000002.12:g.172100724G>C	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro269Leu	rs768589495	missense variant	-	NC_000002.12:g.172100724G>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ser270Arg	rs1272016877	missense variant	-	NC_000002.12:g.172100720G>C	gnomAD
DLX2	Q07687	p.Ser271Arg	rs746967272	missense variant	-	NC_000002.12:g.172100717G>T	ExAC,gnomAD
DLX2	Q07687	p.Ala272Gly	rs112416286	missense variant	-	NC_000002.12:g.172100715G>C	gnomAD
DLX2	Q07687	p.Ala272Val	rs112416286	missense variant	-	NC_000002.12:g.172100715G>A	gnomAD
DLX2	Q07687	p.Ala273Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172100712G>A	NCI-TCGA
DLX2	Q07687	p.Ser274Trp	COSM4847449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100709G>C	NCI-TCGA Cosmic
DLX2	Q07687	p.Ser274Leu	rs779581708	missense variant	-	NC_000002.12:g.172100709G>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Ala275Ser	rs1188506638	missense variant	-	NC_000002.12:g.172100707C>A	gnomAD
DLX2	Q07687	p.Gly278Cys	rs200092634	missense variant	-	NC_000002.12:g.172100698C>A	ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gly278Ser	rs200092634	missense variant	-	NC_000002.12:g.172100698C>T	ESP,ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Gly278Asp	rs1369557173	missense variant	-	NC_000002.12:g.172100697C>T	gnomAD
DLX2	Q07687	p.Tyr280Asp	rs1386459053	missense variant	-	NC_000002.12:g.172100692A>C	TOPMed
DLX2	Q07687	p.Pro281His	rs1461281832	missense variant	-	NC_000002.12:g.172100688G>T	gnomAD
DLX2	Q07687	p.Pro281Ser	rs750084701	missense variant	-	NC_000002.12:g.172100689G>A	ExAC,gnomAD
DLX2	Q07687	p.Trp282Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172100684C>G	NCI-TCGA
DLX2	Q07687	p.Tyr283His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172100683A>G	NCI-TCGA
DLX2	Q07687	p.Tyr283Cys	rs571295299	missense variant	-	NC_000002.12:g.172100682T>C	1000Genomes,ExAC,gnomAD
DLX2	Q07687	p.Tyr283Phe	rs571295299	missense variant	-	NC_000002.12:g.172100682T>A	1000Genomes,ExAC,gnomAD
DLX2	Q07687	p.His284Tyr	rs1166909891	missense variant	-	NC_000002.12:g.172100680G>A	gnomAD
DLX2	Q07687	p.Gln285Leu	rs1431814134	missense variant	-	NC_000002.12:g.172100676T>A	gnomAD
DLX2	Q07687	p.Thr286Ser	rs1391036392	missense variant	-	NC_000002.12:g.172100673G>C	TOPMed,gnomAD
DLX2	Q07687	p.Thr286Asn	rs1391036392	missense variant	-	NC_000002.12:g.172100673G>T	TOPMed,gnomAD
DLX2	Q07687	p.Ala290Ser	rs747099746	missense variant	-	NC_000002.12:g.172100662C>A	ExAC,gnomAD
DLX2	Q07687	p.Ser291Leu	rs756625227	missense variant	-	NC_000002.12:g.172100658G>A	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.His292Asn	rs1207769276	missense variant	-	NC_000002.12:g.172100656G>T	gnomAD
DLX2	Q07687	p.Gln294Lys	rs753186286	missense variant	-	NC_000002.12:g.172100650G>T	ExAC,gnomAD
DLX2	Q07687	p.Ala295Thr	rs1279166165	missense variant	-	NC_000002.12:g.172100647C>T	gnomAD
DLX2	Q07687	p.Pro306Ala	rs1043036799	missense variant	-	NC_000002.12:g.172100614G>C	TOPMed
DLX2	Q07687	p.Pro306Arg	rs1390785268	missense variant	-	NC_000002.12:g.172100613G>C	TOPMed,gnomAD
DLX2	Q07687	p.Pro308Leu	rs766546280	missense variant	-	NC_000002.12:g.172100607G>A	ExAC,gnomAD
DLX2	Q07687	p.His309Leu	rs746958257	missense variant	-	NC_000002.12:g.172100604T>A	ExAC,gnomAD
DLX2	Q07687	p.His309Arg	rs746958257	missense variant	-	NC_000002.12:g.172100604T>C	ExAC,gnomAD
DLX2	Q07687	p.His310Gln	COSM418481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100600G>C	NCI-TCGA Cosmic
DLX2	Q07687	p.His311Tyr	rs998958523	missense variant	-	NC_000002.12:g.172100599G>A	TOPMed
DLX2	Q07687	p.His313Gln	rs989594559	missense variant	-	NC_000002.12:g.172100591G>T	TOPMed
DLX2	Q07687	p.His314Asp	rs1464591996	missense variant	-	NC_000002.12:g.172100590G>C	gnomAD
DLX2	Q07687	p.His315Tyr	rs1184395916	missense variant	-	NC_000002.12:g.172100587G>A	TOPMed
DLX2	Q07687	p.Gly316Arg	rs775343774	missense variant	-	NC_000002.12:g.172100584C>G	ExAC
DLX2	Q07687	p.Gly317Arg	rs1176923623	missense variant	-	NC_000002.12:g.172100581C>G	gnomAD
DLX2	Q07687	p.Gly318Glu	rs1364411529	missense variant	-	NC_000002.12:g.172100577C>T	TOPMed
DLX2	Q07687	p.Gly318Arg	rs1472523234	missense variant	-	NC_000002.12:g.172100578C>T	gnomAD
DLX2	Q07687	p.Gly319Val	rs1470253187	missense variant	-	NC_000002.12:g.172100574C>A	TOPMed,gnomAD
DLX2	Q07687	p.Ala320Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.172100572C>T	NCI-TCGA
DLX2	Q07687	p.Pro321Gln	rs772057247	missense variant	-	NC_000002.12:g.172100568G>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Pro321Arg	rs772057247	missense variant	-	NC_000002.12:g.172100568G>C	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Val322Glu	rs745306871	missense variant	-	NC_000002.12:g.172100565A>T	ExAC,gnomAD
DLX2	Q07687	p.Ser323Arg	rs1042284786	missense variant	-	NC_000002.12:g.172100561G>C	gnomAD
DLX2	Q07687	p.Ser323Ile	rs1256349326	missense variant	-	NC_000002.12:g.172100562C>A	gnomAD
DLX2	Q07687	p.Ala324Thr	COSM4086777	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.172100560C>T	NCI-TCGA Cosmic
DLX2	Q07687	p.Ala324Ser	rs1483927406	missense variant	-	NC_000002.12:g.172100560C>A	gnomAD
DLX2	Q07687	p.Gly325Arg	rs778600887	missense variant	-	NC_000002.12:g.172100557C>T	ExAC,TOPMed,gnomAD
DLX2	Q07687	p.Phe328Cys	rs1405733018	missense variant	-	NC_000002.12:g.172100547A>C	TOPMed
SOS1	Q07889	p.Gln2Leu	rs886056026	missense variant	-	NC_000002.12:g.39120418T>A	-
SOS1	Q07889	p.Gln2Leu	RCV000330632	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39120418T>A	ClinVar
SOS1	Q07889	p.Gln2Leu	RCV000389511	missense variant	-	NC_000002.12:g.39120418T>A	ClinVar
SOS1	Q07889	p.Gln2Glu	rs587781174	missense variant	-	NC_000002.12:g.39120419G>C	ExAC,gnomAD
SOS1	Q07889	p.Gln2Ter	rs587781174	stop gained	-	NC_000002.12:g.39120419G>A	ExAC,gnomAD
SOS1	Q07889	p.Ala3Val	rs745455374	missense variant	-	NC_000002.12:g.39120415G>A	ExAC,gnomAD
SOS1	Q07889	p.Ala3Ser	rs533757634	missense variant	-	NC_000002.12:g.39120416C>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gln4Arg	rs770627276	missense variant	-	NC_000002.12:g.39120412T>C	ExAC,gnomAD
SOS1	Q07889	p.Leu6Pro	rs749077460	missense variant	-	NC_000002.12:g.39120406A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro7Leu	rs755983212	missense variant	-	NC_000002.12:g.39120403G>A	ExAC,gnomAD
SOS1	Q07889	p.Pro7Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39120404G>A	NCI-TCGA
SOS1	Q07889	p.Tyr8Phe	rs781093356	missense variant	-	NC_000002.12:g.39120400T>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Tyr8Cys	rs781093356	missense variant	-	NC_000002.12:g.39120400T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu9Lys	rs1347187972	missense variant	-	NC_000002.12:g.39120398C>T	TOPMed
SOS1	Q07889	p.Glu9Gln	rs1347187972	missense variant	-	NC_000002.12:g.39120398C>G	TOPMed
SOS1	Q07889	p.Glu9Asp	rs765768180	missense variant	-	NC_000002.12:g.39120396C>G	gnomAD
SOS1	Q07889	p.Glu9Lys	RCV000680743	missense variant	-	NC_000002.12:g.39120398C>T	ClinVar
SOS1	Q07889	p.Ser12Arg	rs1454378065	missense variant	-	NC_000002.12:g.39120387G>T	gnomAD
SOS1	Q07889	p.Ser12Gly	rs751776207	missense variant	-	NC_000002.12:g.39120389T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser12Cys	rs751776207	missense variant	-	NC_000002.12:g.39120389T>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu13Gln	rs766698773	missense variant	-	NC_000002.12:g.39120386C>G	ExAC,gnomAD
SOS1	Q07889	p.Glu14Gly	rs750790046	missense variant	-	NC_000002.12:g.39120382T>C	ExAC,gnomAD
SOS1	Q07889	p.Lys18Met	rs777196517	missense variant	-	NC_000002.12:g.39120370T>A	ExAC,gnomAD
SOS1	Q07889	p.Lys18Arg	rs777196517	missense variant	-	NC_000002.12:g.39120370T>C	ExAC,gnomAD
SOS1	Q07889	p.Gly21Arg	rs771423136	missense variant	-	NC_000002.12:g.39120362C>G	ExAC,gnomAD
SOS1	Q07889	p.Leu22Val	rs773916713	missense variant	-	NC_000002.12:g.39120359G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro25Ser	rs139592595	missense variant	-	NC_000002.12:g.39120350G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro25Ser	RCV000521504	missense variant	Rasopathy	NC_000002.12:g.39120350G>A	ClinVar
SOS1	Q07889	p.Ala26Ser	rs1303622703	missense variant	-	NC_000002.12:g.39120347C>A	gnomAD
SOS1	Q07889	p.Lys28Arg	RCV000413861	missense variant	-	NC_000002.12:g.39120340T>C	ClinVar
SOS1	Q07889	p.Lys28Arg	rs1057517867	missense variant	-	NC_000002.12:g.39120340T>C	-
SOS1	Q07889	p.Lys29ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.39120337T>-	NCI-TCGA
SOS1	Q07889	p.Gly32Arg	rs764501046	missense variant	-	NC_000002.12:g.39067747C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.His35Arg	rs886041928	missense variant	-	NC_000002.12:g.39067737T>C	-
SOS1	Q07889	p.His35Arg	RCV000384120	missense variant	-	NC_000002.12:g.39067737T>C	ClinVar
SOS1	Q07889	p.Thr37Ala	RCV000159147	missense variant	Rasopathy	NC_000002.12:g.39067732T>C	ClinVar
SOS1	Q07889	p.Thr37Ala	rs150565592	missense variant	-	NC_000002.12:g.39067732T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr37Ala	rs150565592	missense variant	-	NC_000002.12:g.39067732T>C	UniProt,dbSNP
SOS1	Q07889	p.Thr37Ala	VAR_066031	missense variant	-	NC_000002.12:g.39067732T>C	UniProt
SOS1	Q07889	p.Thr37Ile	rs1295255931	missense variant	-	NC_000002.12:g.39067731G>A	gnomAD
SOS1	Q07889	p.Leu38Phe	rs1242664084	missense variant	-	NC_000002.12:g.39067729G>A	gnomAD
SOS1	Q07889	p.Glu39Val	rs1391761076	missense variant	-	NC_000002.12:g.39067725T>A	gnomAD
SOS1	Q07889	p.Glu39Lys	rs375934353	missense variant	-	NC_000002.12:g.39067726C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu39Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.39067726C>A	NCI-TCGA
SOS1	Q07889	p.Asp42Val	rs1329027771	missense variant	-	NC_000002.12:g.39067716T>A	gnomAD
SOS1	Q07889	p.Asp42Asn	rs1402273679	missense variant	-	NC_000002.12:g.39067717C>T	gnomAD
SOS1	Q07889	p.Asp42His	COSM721017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39067717C>G	NCI-TCGA Cosmic
SOS1	Q07889	p.Asp43His	rs730881052	missense variant	-	NC_000002.12:g.39067714C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp43His	RCV000159184	missense variant	-	NC_000002.12:g.39067714C>G	ClinVar
SOS1	Q07889	p.Ala44Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39067711C>T	NCI-TCGA
SOS1	Q07889	p.Gln46Arg	rs1190714377	missense variant	-	NC_000002.12:g.39067704T>C	TOPMed,gnomAD
SOS1	Q07889	p.Tyr47His	rs1418446263	missense variant	-	NC_000002.12:g.39067702A>G	gnomAD
SOS1	Q07889	p.Val48Ile	rs764909346	missense variant	-	NC_000002.12:g.39067699C>T	ExAC,gnomAD
SOS1	Q07889	p.Val48Ala	rs373898570	missense variant	-	NC_000002.12:g.39067698A>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu50Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.39067693C>A	NCI-TCGA
SOS1	Q07889	p.Leu51Ser	rs1458813036	missense variant	-	NC_000002.12:g.39067689A>G	gnomAD
SOS1	Q07889	p.Gln54His	rs763520126	missense variant	-	NC_000002.12:g.39067679T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn57Tyr	rs765764610	missense variant	-	NC_000002.12:g.39067672T>A	TOPMed,gnomAD
SOS1	Q07889	p.Met58Thr	rs746906388	missense variant	-	NC_000002.12:g.39067668A>G	ExAC,gnomAD
SOS1	Q07889	p.Leu59Ile	rs1442738935	missense variant	-	NC_000002.12:g.39067666G>T	TOPMed
SOS1	Q07889	p.Gln61His	rs1355644577	missense variant	-	NC_000002.12:g.39067658T>G	gnomAD
SOS1	Q07889	p.Gln63Leu	rs557722218	missense variant	-	NC_000002.12:g.39067653T>A	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Arg65Ter	rs1303674298	stop gained	-	NC_000002.12:g.39067648G>A	TOPMed
SOS1	Q07889	p.Arg65Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39067647C>T	NCI-TCGA
SOS1	Q07889	p.Ala67Thr	RCV000159186	missense variant	-	NC_000002.12:g.39067642C>T	ClinVar
SOS1	Q07889	p.Ala67Thr	rs730881053	missense variant	-	NC_000002.12:g.39067642C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala67Val	rs1445719629	missense variant	-	NC_000002.12:g.39067641G>A	gnomAD
SOS1	Q07889	p.Asp69His	rs771172095	missense variant	-	NC_000002.12:g.39067636C>G	ExAC,gnomAD
SOS1	Q07889	p.Arg73Cys	rs772133124	missense variant	-	NC_000002.12:g.39058801G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg73His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39058800C>T	NCI-TCGA
SOS1	Q07889	p.Arg73Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39058800C>G	NCI-TCGA
SOS1	Q07889	p.Val74Ile	RCV000681438	missense variant	-	NC_000002.12:g.39058798C>T	ClinVar
SOS1	Q07889	p.Val74Leu	rs1292587800	missense variant	-	NC_000002.12:g.39058798C>G	gnomAD
SOS1	Q07889	p.Gln75Leu	rs786205522	missense variant	-	NC_000002.12:g.39058794T>A	-
SOS1	Q07889	p.Gln75Leu	RCV000171289	missense variant	-	NC_000002.12:g.39058794T>A	ClinVar
SOS1	Q07889	p.Ser77LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.39058788_39058789insT	NCI-TCGA
SOS1	Q07889	p.Phe78Cys	rs201352584	missense variant	-	NC_000002.12:g.39058785A>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Phe78Cys	RCV000514749	missense variant	-	NC_000002.12:g.39058785A>C	ClinVar
SOS1	Q07889	p.Phe78Cys	RCV000852537	missense variant	Ventricular tachycardia	NC_000002.12:g.39058785A>C	ClinVar
SOS1	Q07889	p.Phe78Cys	RCV000460292	missense variant	Rasopathy	NC_000002.12:g.39058785A>C	ClinVar
SOS1	Q07889	p.Pro79Arg	rs1217237678	missense variant	-	NC_000002.12:g.39058782G>C	TOPMed,gnomAD
SOS1	Q07889	p.His80Arg	COSM3695504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39058779T>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Pro81Ser	rs1170908990	missense variant	-	NC_000002.12:g.39058777G>A	TOPMed
SOS1	Q07889	p.Ile82Val	rs397517157	missense variant	-	NC_000002.12:g.39058774T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile82Thr	rs1278714177	missense variant	-	NC_000002.12:g.39058773A>G	gnomAD
SOS1	Q07889	p.Ile82Val	RCV000038533	missense variant	-	NC_000002.12:g.39058774T>C	ClinVar
SOS1	Q07889	p.Ile82Val	RCV000680318	missense variant	-	NC_000002.12:g.39058774T>C	ClinVar
SOS1	Q07889	p.Ile82Val	RCV000541335	missense variant	Rasopathy	NC_000002.12:g.39058774T>C	ClinVar
SOS1	Q07889	p.Asp83Asn	rs1401325594	missense variant	-	NC_000002.12:g.39058771C>T	gnomAD
SOS1	Q07889	p.Asp83Ala	rs749485750	missense variant	-	NC_000002.12:g.39058770T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp83Gly	rs749485750	missense variant	-	NC_000002.12:g.39058770T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Lys84Glu	rs1319777416	missense variant	-	NC_000002.12:g.39058768T>C	TOPMed
SOS1	Q07889	p.Trp85Arg	rs730881054	missense variant	-	NC_000002.12:g.39058765A>T	gnomAD
SOS1	Q07889	p.Trp85Gly	rs730881054	missense variant	-	NC_000002.12:g.39058765A>C	gnomAD
SOS1	Q07889	p.Trp85Arg	rs730881054	missense variant	-	NC_000002.12:g.39058765A>G	gnomAD
SOS1	Q07889	p.Trp85Ter	COSM3991304	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39058763C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Trp85Arg	RCV000545153	missense variant	Rasopathy	NC_000002.12:g.39058765A>G	ClinVar
SOS1	Q07889	p.Trp85Arg	RCV000159187	missense variant	-	NC_000002.12:g.39058765A>T	ClinVar
SOS1	Q07889	p.Asp89Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39058752T>G	NCI-TCGA
SOS1	Q07889	p.Ala90Thr	COSM721018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39058750C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Ala90Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39058749G>A	NCI-TCGA
SOS1	Q07889	p.Ser92Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39058744A>G	NCI-TCGA
SOS1	Q07889	p.Ala93Asp	COSM1408050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39058740G>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Ile94Val	RCV000523770	missense variant	Rasopathy	NC_000002.12:g.39058738T>C	ClinVar
SOS1	Q07889	p.Ile94Thr	rs397517161	missense variant	-	NC_000002.12:g.39058737A>G	gnomAD
SOS1	Q07889	p.Ile94Val	rs144757941	missense variant	-	NC_000002.12:g.39058738T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile94Thr	RCV000038539	missense variant	-	NC_000002.12:g.39058737A>G	ClinVar
SOS1	Q07889	p.Glu95Lys	rs1558493384	missense variant	-	NC_000002.12:g.39058735C>T	NCI-TCGA
SOS1	Q07889	p.Glu95Lys	RCV000702580	missense variant	Rasopathy	NC_000002.12:g.39058735C>T	ClinVar
SOS1	Q07889	p.Lys98Arg	rs770048860	missense variant	-	NC_000002.12:g.39058725T>C	ExAC,gnomAD
SOS1	Q07889	p.Arg100Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39058719C>A	NCI-TCGA
SOS1	Q07889	p.Asn101Ser	rs781600559	missense variant	-	NC_000002.12:g.39058716T>C	ExAC
SOS1	Q07889	p.Asn101His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39058717T>G	NCI-TCGA
SOS1	Q07889	p.Pro102Arg	rs1553362937	missense variant	-	NC_000002.12:g.39058713G>C	-
SOS1	Q07889	p.Pro102Arg	rs1553362937	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058713G>C	UniProt,dbSNP
SOS1	Q07889	p.Pro102Arg	VAR_066032	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058713G>C	UniProt
SOS1	Q07889	p.Pro102Arg	RCV000544063	missense variant	Rasopathy	NC_000002.12:g.39058713G>C	ClinVar
SOS1	Q07889	p.Leu103Ser	rs1188721742	missense variant	-	NC_000002.12:g.39058710A>G	gnomAD
SOS1	Q07889	p.Ser104Cys	rs752017140	missense variant	-	NC_000002.12:g.39058707G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser104Phe	rs752017140	missense variant	-	NC_000002.12:g.39058707G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu105Ile	rs1230538285	missense variant	-	NC_000002.12:g.39058705G>T	TOPMed
SOS1	Q07889	p.Val107Leu	rs1235907251	missense variant	-	NC_000002.12:g.39058699C>A	gnomAD
SOS1	Q07889	p.Glu108Lys	RCV000537356	missense variant	Rasopathy	NC_000002.12:g.39058696C>T	ClinVar
SOS1	Q07889	p.Glu108Lys	RCV000038546	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39058696C>T	ClinVar
SOS1	Q07889	p.Glu108Gly	RCV000265265	missense variant	-	NC_000002.12:g.39058695T>C	ClinVar
SOS1	Q07889	p.Glu108Gly	rs886041923	missense variant	-	NC_000002.12:g.39058695T>C	-
SOS1	Q07889	p.Glu108Lys	RCV000159144	missense variant	-	NC_000002.12:g.39058696C>T	ClinVar
SOS1	Q07889	p.Glu108Lys	rs397517164	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058696C>T	UniProt,dbSNP
SOS1	Q07889	p.Glu108Lys	VAR_030423	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058696C>T	UniProt
SOS1	Q07889	p.Glu108Lys	rs397517164	missense variant	-	NC_000002.12:g.39058696C>T	-
SOS1	Q07889	p.Ile110Val	rs1276127499	missense variant	-	NC_000002.12:g.39058690T>C	TOPMed
SOS1	Q07889	p.Ile110Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39058689A>T	NCI-TCGA
SOS1	Q07889	p.Pro112Arg	rs397517166	missense variant	-	NC_000002.12:g.39058683G>C	-
SOS1	Q07889	p.Pro112Arg	rs397517166	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058683G>C	UniProt,dbSNP
SOS1	Q07889	p.Pro112Arg	VAR_066033	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058683G>C	UniProt
SOS1	Q07889	p.Pro112Arg	RCV000038549	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39058683G>C	ClinVar
SOS1	Q07889	p.Glu116Gln	rs747505741	missense variant	-	NC_000002.12:g.39056866C>G	ExAC
SOS1	Q07889	p.Val117Leu	rs780406547	missense variant	-	NC_000002.12:g.39056863C>G	ExAC,gnomAD
SOS1	Q07889	p.Val117Gly	RCV000520887	missense variant	Rasopathy	NC_000002.12:g.39056862A>C	ClinVar
SOS1	Q07889	p.Val117Gly	rs201085754	missense variant	-	NC_000002.12:g.39056862A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu118Val	rs748805040	missense variant	-	NC_000002.12:g.39056860G>C	ExAC,gnomAD
SOS1	Q07889	p.Gly119Ala	rs777484168	missense variant	-	NC_000002.12:g.39056856C>G	ExAC,gnomAD
SOS1	Q07889	p.Gly119Asp	rs777484168	missense variant	-	NC_000002.12:g.39056856C>T	ExAC,gnomAD
SOS1	Q07889	p.His124Gln	rs1266876999	missense variant	-	NC_000002.12:g.39056840G>T	gnomAD
SOS1	Q07889	p.His124Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39056841T>C	NCI-TCGA
SOS1	Q07889	p.Gln125His	rs1400246247	missense variant	-	NC_000002.12:g.39056837C>G	gnomAD
SOS1	Q07889	p.Gln125Lys	RCV000038558	missense variant	-	NC_000002.12:g.39056839G>T	ClinVar
SOS1	Q07889	p.Gln125Lys	rs397517170	missense variant	-	NC_000002.12:g.39056839G>T	-
SOS1	Q07889	p.Val126Ile	rs755770649	missense variant	-	NC_000002.12:g.39056836C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val126Leu	rs755770649	missense variant	-	NC_000002.12:g.39056836C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val126Ile	RCV000780745	missense variant	-	NC_000002.12:g.39056836C>T	ClinVar
SOS1	Q07889	p.Val128Ile	rs752402979	missense variant	-	NC_000002.12:g.39056830C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val131Ala	rs754751004	missense variant	-	NC_000002.12:g.39056820A>G	ExAC,gnomAD
SOS1	Q07889	p.Tyr136Cys	rs1437526499	missense variant	-	NC_000002.12:g.39056805T>C	gnomAD
SOS1	Q07889	p.Ile137Leu	rs1249736646	missense variant	-	NC_000002.12:g.39056803T>G	gnomAD
SOS1	Q07889	p.Val145Ile	rs1263221891	missense variant	-	NC_000002.12:g.39056779C>T	TOPMed,gnomAD
SOS1	Q07889	p.Asn147Ser	rs1223107725	missense variant	-	NC_000002.12:g.39056772T>C	gnomAD
SOS1	Q07889	p.Asn151His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39056761T>G	NCI-TCGA
SOS1	Q07889	p.Arg153Gln	rs761951846	missense variant	-	NC_000002.12:g.39056754C>T	ExAC,gnomAD
SOS1	Q07889	p.Arg153Trp	rs952307464	missense variant	-	NC_000002.12:g.39056755G>A	TOPMed,gnomAD
SOS1	Q07889	p.His154Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39056752G>A	NCI-TCGA
SOS1	Q07889	p.Tyr155Cys	rs1188280924	missense variant	-	NC_000002.12:g.39056748T>C	TOPMed
SOS1	Q07889	p.Glu156Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39056746C>G	NCI-TCGA
SOS1	Q07889	p.Thr158Ala	rs1238452977	missense variant	-	NC_000002.12:g.39056740T>C	gnomAD
SOS1	Q07889	p.Thr158Ile	rs776744951	missense variant	-	NC_000002.12:g.39056739G>A	ExAC,gnomAD
SOS1	Q07889	p.Ile162Thr	rs1482721707	missense variant	-	NC_000002.12:g.39056727A>G	TOPMed,gnomAD
SOS1	Q07889	p.Lys163Glu	RCV000764408	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39056725T>C	ClinVar
SOS1	Q07889	p.Lys163Glu	rs886042206	missense variant	-	NC_000002.12:g.39056725T>C	-
SOS1	Q07889	p.Lys163Glu	RCV000329053	missense variant	-	NC_000002.12:g.39056725T>C	ClinVar
SOS1	Q07889	p.Ala165Gly	RCV000680638	missense variant	-	NC_000002.12:g.39056718G>C	ClinVar
SOS1	Q07889	p.Met166Val	rs1389080394	missense variant	-	NC_000002.12:g.39056716T>C	TOPMed,gnomAD
SOS1	Q07889	p.Cys167Tyr	rs768975865	missense variant	-	NC_000002.12:g.39056712C>T	ExAC,gnomAD
SOS1	Q07889	p.Lys170Glu	RCV000624105	missense variant	Inborn genetic diseases	NC_000002.12:g.39056704T>C	ClinVar
SOS1	Q07889	p.Lys170Glu	rs397517172	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39056704T>C	UniProt,dbSNP
SOS1	Q07889	p.Lys170Glu	VAR_066034	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39056704T>C	UniProt
SOS1	Q07889	p.Lys170Glu	rs397517172	missense variant	-	NC_000002.12:g.39056704T>C	-
SOS1	Q07889	p.Lys170Glu	RCV000038560	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39056704T>C	ClinVar
SOS1	Q07889	p.Lys170Glu	RCV000157689	missense variant	-	NC_000002.12:g.39056704T>C	ClinVar
SOS1	Q07889	p.Lys170Glu	RCV000476014	missense variant	Rasopathy	NC_000002.12:g.39056704T>C	ClinVar
SOS1	Q07889	p.Val171Gly	RCV000466303	missense variant	Rasopathy	NC_000002.12:g.39054822A>C	ClinVar
SOS1	Q07889	p.Val171Ala	rs397517174	missense variant	-	NC_000002.12:g.39054822A>G	-
SOS1	Q07889	p.Val171Ala	RCV000038562	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39054822A>G	ClinVar
SOS1	Q07889	p.Val171Ala	RCV000788003	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39054822A>G	ClinVar
SOS1	Q07889	p.Val171Gly	RCV000038563	missense variant	-	NC_000002.12:g.39054822A>C	ClinVar
SOS1	Q07889	p.Asp179Tyr	COSM285268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39054799C>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Glu181Asp	rs201068374	missense variant	-	NC_000002.12:g.39054791T>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp182Asn	RCV000521975	missense variant	-	NC_000002.12:g.39054790C>T	ClinVar
SOS1	Q07889	p.Asp182Asn	rs1553362279	missense variant	-	NC_000002.12:g.39054790C>T	-
SOS1	Q07889	p.Ile183Thr	rs772569423	missense variant	-	NC_000002.12:g.39054786A>G	ExAC,gnomAD
SOS1	Q07889	p.Asn184IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.39054783T>-	NCI-TCGA
SOS1	Q07889	p.Ile185Val	RCV000520723	missense variant	Rasopathy	NC_000002.12:g.39054781T>C	ClinVar
SOS1	Q07889	p.Ile185Val	rs143962515	missense variant	-	NC_000002.12:g.39054781T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile185Arg	rs1310407153	missense variant	-	NC_000002.12:g.39054780A>C	gnomAD
SOS1	Q07889	p.Ile185Met	rs771614273	missense variant	-	NC_000002.12:g.39054779T>C	ExAC,TOPMed
SOS1	Q07889	p.Leu186Ter	RCV000654937	frameshift	Rasopathy	NC_000002.12:g.39054774_39054778del	ClinVar
SOS1	Q07889	p.Ser187Tyr	rs730881038	missense variant	-	NC_000002.12:g.39054774G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu188Ser	rs967765514	missense variant	-	NC_000002.12:g.39054771A>G	TOPMed,gnomAD
SOS1	Q07889	p.Asp190Glu	rs55980502	missense variant	-	NC_000002.12:g.39054764G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu191Lys	RCV000761106	missense variant	Neuroblastoma (NBLST1)	NC_000002.12:g.39054763C>T	ClinVar
SOS1	Q07889	p.Glu191Lys	rs886041241	missense variant	-	NC_000002.12:g.39054763C>T	gnomAD
SOS1	Q07889	p.Glu191Lys	RCV000293469	missense variant	-	NC_000002.12:g.39054763C>T	ClinVar
SOS1	Q07889	p.Pro193Leu	rs1174182802	missense variant	-	NC_000002.12:g.39054756G>A	gnomAD
SOS1	Q07889	p.Ser194Phe	COSM3991303	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39054753G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Thr195Ile	rs1202550799	missense variant	-	NC_000002.12:g.39054750G>A	gnomAD
SOS1	Q07889	p.Ser196Leu	RCV000358698	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39054747G>A	ClinVar
SOS1	Q07889	p.Ser196Leu	rs199898869	missense variant	-	NC_000002.12:g.39054747G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser196Leu	RCV000213944	missense variant	-	NC_000002.12:g.39054747G>A	ClinVar
SOS1	Q07889	p.Ser196Leu	RCV000268538	missense variant	-	NC_000002.12:g.39054747G>A	ClinVar
SOS1	Q07889	p.Gly197Ala	rs1262897249	missense variant	-	NC_000002.12:g.39054744C>G	gnomAD
SOS1	Q07889	p.Gln199His	rs397517175	missense variant	-	NC_000002.12:g.39054737T>G	ExAC,gnomAD
SOS1	Q07889	p.Thr200Ser	rs143007609	missense variant	-	NC_000002.12:g.39054735G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr200Ala	COSM442892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39054736T>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Val205Leu	rs1341328808	missense variant	-	NC_000002.12:g.39054721C>G	gnomAD
SOS1	Q07889	p.Ala207Ser	rs759310872	missense variant	-	NC_000002.12:g.39054715C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala207Val	rs1262404980	missense variant	-	NC_000002.12:g.39054714G>A	TOPMed
SOS1	Q07889	p.Ala207Thr	rs759310872	missense variant	-	NC_000002.12:g.39054715C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met209Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39054709T>G	NCI-TCGA
SOS1	Q07889	p.Ile212Met	rs1397573530	missense variant	-	NC_000002.12:g.39054698A>C	gnomAD
SOS1	Q07889	p.Arg213Gln	RCV000586137	missense variant	-	NC_000002.12:g.39054696C>T	ClinVar
SOS1	Q07889	p.Arg213Gln	rs374761537	missense variant	-	NC_000002.12:g.39054696C>T	ESP,ExAC,gnomAD
SOS1	Q07889	p.Arg213Ter	COSM1408048	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39054697G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Gln214His	RCV000404559	missense variant	-	NC_000002.12:g.39054692T>A	ClinVar
SOS1	Q07889	p.Gln214His	rs886041696	missense variant	-	NC_000002.12:g.39054692T>A	-
SOS1	Q07889	p.Tyr215His	RCV000704276	missense variant	Rasopathy	NC_000002.12:g.39054691A>G	ClinVar
SOS1	Q07889	p.Tyr215His	rs730881039	missense variant	-	NC_000002.12:g.39054691A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Tyr215Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39054690T>C	NCI-TCGA
SOS1	Q07889	p.Ile216Leu	rs752994841	missense variant	-	NC_000002.12:g.39054688T>A	ExAC
SOS1	Q07889	p.Leu221Val	rs1007628403	missense variant	-	NC_000002.12:g.39054673G>C	TOPMed,gnomAD
SOS1	Q07889	p.Leu221Ile	rs1007628403	missense variant	-	NC_000002.12:g.39054673G>T	TOPMed,gnomAD
SOS1	Q07889	p.Leu221Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39054672A>C	NCI-TCGA
SOS1	Q07889	p.Ile223Thr	RCV000038567	missense variant	-	NC_000002.12:g.39054666A>G	ClinVar
SOS1	Q07889	p.Ile223Met	RCV000520677	missense variant	-	NC_000002.12:g.39054665T>C	ClinVar
SOS1	Q07889	p.Ile223Met	rs1553362230	missense variant	-	NC_000002.12:g.39054665T>C	-
SOS1	Q07889	p.Ile223Val	rs759955925	missense variant	-	NC_000002.12:g.39054667T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile223Thr	rs397517176	missense variant	-	NC_000002.12:g.39054666A>G	-
SOS1	Q07889	p.Lys224Glu	rs889231089	missense variant	-	NC_000002.12:g.39054664T>C	gnomAD
SOS1	Q07889	p.Val225Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39054660A>G	NCI-TCGA
SOS1	Q07889	p.Phe230Val	RCV000038568	missense variant	-	NC_000002.12:g.39054646A>C	ClinVar
SOS1	Q07889	p.Phe230Val	rs397517177	missense variant	-	NC_000002.12:g.39054646A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val231Ala	rs775942839	missense variant	-	NC_000002.12:g.39054642A>G	ExAC,gnomAD
SOS1	Q07889	p.Ser232Cys	rs1414554842	missense variant	-	NC_000002.12:g.39054639G>C	TOPMed
SOS1	Q07889	p.Asn233Tyr	rs1057519963	missense variant	-	NC_000002.12:g.39054637T>A	-
SOS1	Q07889	p.Asn233Ser	rs144934321	missense variant	-	NC_000002.12:g.39054636T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn233Tyr	RCV000444257	missense variant	Lung adenocarcinoma	NC_000002.12:g.39054637T>A	ClinVar
SOS1	Q07889	p.Asn233Ser	RCV000724504	missense variant	-	NC_000002.12:g.39054636T>C	ClinVar
SOS1	Q07889	p.Asn233Tyr	RCV000425749	missense variant	Malignant neoplasm of body of uterus	NC_000002.12:g.39054637T>A	ClinVar
SOS1	Q07889	p.Ser234Ter	COSM442891	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39054633G>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Ala239Thr	rs746598933	missense variant	-	NC_000002.12:g.39054619C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn240Lys	rs779699814	missense variant	-	NC_000002.12:g.39054614A>C	ExAC,gnomAD
SOS1	Q07889	p.Val242Leu	rs1240620836	missense variant	-	NC_000002.12:g.39051284C>G	gnomAD
SOS1	Q07889	p.Ile245Val	rs763459953	missense variant	-	NC_000002.12:g.39051275T>C	ExAC,gnomAD
SOS1	Q07889	p.Phe246Tyr	rs760204614	missense variant	-	NC_000002.12:g.39051271A>T	ExAC,gnomAD
SOS1	Q07889	p.Arg248Leu	rs775052125	missense variant	-	NC_000002.12:g.39051265C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg248His	rs775052125	missense variant	-	NC_000002.12:g.39051265C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg248Cys	COSM5989328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39051266G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Ile249Thr	RCV000654921	missense variant	Rasopathy	NC_000002.12:g.39051262A>G	ClinVar
SOS1	Q07889	p.Ile249Thr	rs1324979194	missense variant	-	NC_000002.12:g.39051262A>G	gnomAD
SOS1	Q07889	p.Val250Ala	RCV000228572	missense variant	Rasopathy	NC_000002.12:g.39051259A>G	ClinVar
SOS1	Q07889	p.Val250Ala	rs139290271	missense variant	-	NC_000002.12:g.39051259A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile252Leu	rs1158811958	missense variant	-	NC_000002.12:g.39051254T>G	gnomAD
SOS1	Q07889	p.Ile252Thr	RCV000586619	missense variant	-	NC_000002.12:g.39051253A>G	ClinVar
SOS1	Q07889	p.Ile252Thr	rs142094234	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051253A>G	UniProt,dbSNP
SOS1	Q07889	p.Ile252Thr	VAR_066035	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051253A>G	UniProt
SOS1	Q07889	p.Ile252Thr	rs142094234	missense variant	-	NC_000002.12:g.39051253A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.His253Tyr	RCV000279899	missense variant	-	NC_000002.12:g.39051251G>A	ClinVar
SOS1	Q07889	p.His253Tyr	rs886041934	missense variant	-	NC_000002.12:g.39051251G>A	-
SOS1	Q07889	p.Lys258Met	rs770792180	missense variant	-	NC_000002.12:g.39051235T>A	ExAC,gnomAD
SOS1	Q07889	p.Gly261Arg	rs1307150340	missense variant	-	NC_000002.12:g.39051227C>G	TOPMed
SOS1	Q07889	p.His262Arg	rs749132484	missense variant	-	NC_000002.12:g.39051223T>C	ExAC,gnomAD
SOS1	Q07889	p.His262Gln	rs1393013631	missense variant	-	NC_000002.12:g.39051222A>C	TOPMed
SOS1	Q07889	p.Ile263Thr	RCV000523181	missense variant	-	NC_000002.12:g.39051220A>G	ClinVar
SOS1	Q07889	p.Ile263Thr	rs1310500908	missense variant	-	NC_000002.12:g.39051220A>G	TOPMed
SOS1	Q07889	p.Asp265Asn	COSM6091618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39051215C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Thr266Lys	RCV000038570	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Thr266Lys	RCV000013729	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Thr266Lys	RCV000515403	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Thr266Lys	RCV000213007	missense variant	-	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Thr266Lys	rs137852812	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051211G>T	UniProt,dbSNP
SOS1	Q07889	p.Thr266Lys	VAR_030424	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051211G>T	UniProt
SOS1	Q07889	p.Thr266Lys	rs137852812	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39051211G>T	-
SOS1	Q07889	p.Thr266Lys	RCV000149833	missense variant	Rasopathy	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Val267Ala	rs748234666	missense variant	-	NC_000002.12:g.39051208A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met269Thr	RCV000539275	missense variant	Rasopathy	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Thr	RCV000622587	missense variant	Inborn genetic diseases	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Arg	RCV000013730	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>C	ClinVar
SOS1	Q07889	p.Met269Arg	rs137852813	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>C	UniProt,dbSNP
SOS1	Q07889	p.Met269Arg	VAR_030425	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>C	UniProt
SOS1	Q07889	p.Met269Arg	rs137852813	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39051202A>C	-
SOS1	Q07889	p.Met269Thr	rs137852813	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39051202A>G	-
SOS1	Q07889	p.Met269Thr	rs137852813	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>G	UniProt,dbSNP
SOS1	Q07889	p.Met269Thr	VAR_064504	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>G	UniProt
SOS1	Q07889	p.Met269Thr	RCV000487454	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Arg	RCV000157691	missense variant	-	NC_000002.12:g.39051202A>C	ClinVar
SOS1	Q07889	p.Met269Thr	RCV000157690	missense variant	-	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Arg	RCV000211854	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39051202A>C	ClinVar
SOS1	Q07889	p.Met269Arg	RCV000554031	missense variant	Rasopathy	NC_000002.12:g.39051202A>C	ClinVar
SOS1	Q07889	p.Met269Thr	RCV000208414	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Lys	COSM1690495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39051202A>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Met269Val	COSM6091619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39051203T>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Met269Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39051201C>T	NCI-TCGA
SOS1	Q07889	p.Pro277Thr	rs1057517871	missense variant	-	NC_000002.12:g.39051179G>T	-
SOS1	Q07889	p.Pro277Thr	RCV000414064	missense variant	-	NC_000002.12:g.39051179G>T	ClinVar
SOS1	Q07889	p.Val279Ile	rs188055807	missense variant	-	NC_000002.12:g.39051173C>T	1000Genomes,ExAC
SOS1	Q07889	p.Ser281Gly	RCV000038573	missense variant	-	NC_000002.12:g.39051167T>C	ClinVar
SOS1	Q07889	p.Ser281Gly	rs397517178	missense variant	-	NC_000002.12:g.39051167T>C	TOPMed,gnomAD
SOS1	Q07889	p.Cys282Tyr	rs1281947981	missense variant	-	NC_000002.12:g.39051163C>T	gnomAD
SOS1	Q07889	p.Phe283Leu	rs1222945881	missense variant	-	NC_000002.12:g.39051161A>G	TOPMed,gnomAD
SOS1	Q07889	p.Phe283Leu	RCV000681410	missense variant	-	NC_000002.12:g.39051161A>G	ClinVar
SOS1	Q07889	p.Phe283Leu	rs1484250031	missense variant	-	NC_000002.12:g.39051159A>C	TOPMed
SOS1	Q07889	p.Glu296Asp	rs1335105269	missense variant	-	NC_000002.12:g.39035477T>G	gnomAD
SOS1	Q07889	p.Ser297Leu	RCV000323255	missense variant	-	NC_000002.12:g.39035475G>A	ClinVar
SOS1	Q07889	p.Ser297Leu	rs779162761	missense variant	-	NC_000002.12:g.39035475G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg300Gln	RCV000800167	missense variant	Rasopathy	NC_000002.12:g.39035466C>T	ClinVar
SOS1	Q07889	p.Arg300Gly	rs757720349	missense variant	-	NC_000002.12:g.39035467G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg300Gln	RCV000362251	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39035466C>T	ClinVar
SOS1	Q07889	p.Arg300Gln	rs754374236	missense variant	-	NC_000002.12:g.39035466C>T	ExAC,gnomAD
SOS1	Q07889	p.Arg300Gln	RCV000307592	missense variant	-	NC_000002.12:g.39035466C>T	ClinVar
SOS1	Q07889	p.Arg304Leu	rs886254041	missense variant	-	NC_000002.12:g.39035454C>A	TOPMed,gnomAD
SOS1	Q07889	p.Arg304Gln	rs886254041	missense variant	-	NC_000002.12:g.39035454C>T	TOPMed,gnomAD
SOS1	Q07889	p.Arg304Pro	rs886254041	missense variant	-	NC_000002.12:g.39035454C>G	TOPMed,gnomAD
SOS1	Q07889	p.Arg304Ter	rs766965165	stop gained	-	NC_000002.12:g.39035455G>A	ExAC,gnomAD
SOS1	Q07889	p.Asp309Tyr	rs397517180	missense variant	-	NC_000002.12:g.39035440C>A	-
SOS1	Q07889	p.Asp309Tyr	rs397517180	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39035440C>A	UniProt,dbSNP
SOS1	Q07889	p.Asp309Tyr	VAR_030426	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39035440C>A	UniProt
SOS1	Q07889	p.Asp309Tyr	RCV000038575	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39035440C>A	ClinVar
SOS1	Q07889	p.Asp309Tyr	RCV000255002	missense variant	-	NC_000002.12:g.39035440C>A	ClinVar
SOS1	Q07889	p.Arg310His	RCV000038577	missense variant	-	NC_000002.12:g.39035436C>T	ClinVar
SOS1	Q07889	p.Arg310His	rs143481916	missense variant	-	NC_000002.12:g.39035436C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg310Cys	rs867539471	missense variant	-	NC_000002.12:g.39035437G>A	TOPMed,gnomAD
SOS1	Q07889	p.Arg310His	RCV000349172	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39035436C>T	ClinVar
SOS1	Q07889	p.Arg310His	RCV000394772	missense variant	-	NC_000002.12:g.39035436C>T	ClinVar
SOS1	Q07889	p.Phe311Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39035433A>T	NCI-TCGA
SOS1	Q07889	p.Leu312Arg	rs139274919	missense variant	-	NC_000002.12:g.39035430A>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu312Phe	rs1437202996	missense variant	-	NC_000002.12:g.39035431G>A	TOPMed
SOS1	Q07889	p.Gln314His	rs766049717	missense variant	-	NC_000002.12:g.39035423C>G	ExAC,gnomAD
SOS1	Q07889	p.Ser316Thr	rs762569805	missense variant	-	NC_000002.12:g.39035419A>T	ExAC,gnomAD
SOS1	Q07889	p.Ala321Val	rs148749327	missense variant	-	NC_000002.12:g.39035403G>A	ESP,gnomAD
SOS1	Q07889	p.Ala321Thr	RCV000681134	missense variant	-	NC_000002.12:g.39035404C>T	ClinVar
SOS1	Q07889	p.Gln325His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39035390C>A	NCI-TCGA
SOS1	Q07889	p.Ile327Val	rs758546951	missense variant	-	NC_000002.12:g.39035307T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile327Val	RCV000511020	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39035307T>C	ClinVar
SOS1	Q07889	p.Gly328Ser	rs1215944824	missense variant	-	NC_000002.12:g.39035304C>T	TOPMed
SOS1	Q07889	p.Glu329Lys	rs756679265	missense variant	-	NC_000002.12:g.39035301C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu329Lys	RCV000654955	missense variant	Rasopathy	NC_000002.12:g.39035301C>T	ClinVar
SOS1	Q07889	p.Glu333Asp	rs751065321	missense variant	-	NC_000002.12:g.39035287T>G	ExAC,gnomAD
SOS1	Q07889	p.Ala334Asp	rs762599512	missense variant	-	NC_000002.12:g.39035285G>T	ExAC,gnomAD
SOS1	Q07889	p.Ala334Thr	rs765820430	missense variant	-	NC_000002.12:g.39035286C>T	ExAC,gnomAD
SOS1	Q07889	p.Ala334Val	rs762599512	missense variant	-	NC_000002.12:g.39035285G>A	ExAC,gnomAD
SOS1	Q07889	p.Gln336Arg	RCV000226933	missense variant	Rasopathy	NC_000002.12:g.39035279T>C	ClinVar
SOS1	Q07889	p.Gln336Arg	rs765028553	missense variant	-	NC_000002.12:g.39035279T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Tyr337Cys	rs724160007	missense variant	-	NC_000002.12:g.39035276T>C	ExAC,gnomAD
SOS1	Q07889	p.Tyr337Cys	RCV000154291	missense variant	-	NC_000002.12:g.39035276T>C	ClinVar
SOS1	Q07889	p.Tyr337Cys	RCV000149848	missense variant	Rasopathy	NC_000002.12:g.39035276T>C	ClinVar
SOS1	Q07889	p.Leu339ThrPheSerTerUnkUnk	COSM1408047	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39035270_39035271AA>-	NCI-TCGA Cosmic
SOS1	Q07889	p.Pro340His	rs1367541617	missense variant	-	NC_000002.12:g.39035267G>T	TOPMed
SOS1	Q07889	p.Pro340Ser	rs190222208	missense variant	-	NC_000002.12:g.39035268G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro340Ser	RCV000788014	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39035268G>A	ClinVar
SOS1	Q07889	p.His349Gln	rs1043516636	missense variant	-	NC_000002.12:g.39035239G>C	TOPMed,gnomAD
SOS1	Q07889	p.His349Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39035240T>C	NCI-TCGA
SOS1	Q07889	p.Leu351Phe	rs771185305	missense variant	-	NC_000002.12:g.39035235G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu351Val	rs771185305	missense variant	-	NC_000002.12:g.39035235G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu356Phe	RCV000681172	missense variant	-	NC_000002.12:g.39035220G>A	ClinVar
SOS1	Q07889	p.Leu357Val	rs1489141486	missense variant	-	NC_000002.12:g.39035217A>C	TOPMed,gnomAD
SOS1	Q07889	p.Leu357Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39035215C>G	NCI-TCGA
SOS1	Q07889	p.Lys358Glu	rs1394427827	missense variant	-	NC_000002.12:g.39035214T>C	TOPMed
SOS1	Q07889	p.Glu361Gln	rs1319230923	missense variant	-	NC_000002.12:g.39024131C>G	gnomAD
SOS1	Q07889	p.Glu362Ter	COSM1020880	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39024128C>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Asp366Glu	RCV000680311	missense variant	-	NC_000002.12:g.39024114A>T	ClinVar
SOS1	Q07889	p.Asp366Glu	rs730881040	missense variant	-	NC_000002.12:g.39024114A>T	-
SOS1	Q07889	p.Asp366Val	rs1056080833	missense variant	-	NC_000002.12:g.39024115T>A	TOPMed,gnomAD
SOS1	Q07889	p.Asp366Glu	RCV000764407	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39024114A>T	ClinVar
SOS1	Q07889	p.Cys372Phe	COSM721019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39024097C>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Leu373Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39024093T>A	NCI-TCGA
SOS1	Q07889	p.Lys374Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.39024092T>A	NCI-TCGA
SOS1	Q07889	p.Ala376Gly	rs1347684399	missense variant	-	NC_000002.12:g.39024085G>C	TOPMed
SOS1	Q07889	p.Thr378Ala	rs397517146	missense variant	-	NC_000002.12:g.39024080T>C	UniProt,dbSNP
SOS1	Q07889	p.Thr378Ala	VAR_066036	missense variant	-	NC_000002.12:g.39024080T>C	UniProt
SOS1	Q07889	p.Thr378Ala	rs397517146	missense variant	-	NC_000002.12:g.39024080T>C	-
SOS1	Q07889	p.Thr378Ser	COSM4094176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39024080T>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Thr378Ala	RCV000482668	missense variant	-	NC_000002.12:g.39024080T>C	ClinVar
SOS1	Q07889	p.Val383Leu	rs1313184916	missense variant	-	NC_000002.12:g.39024065C>G	gnomAD
SOS1	Q07889	p.Ser385Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39024058C>T	NCI-TCGA
SOS1	Q07889	p.Ser385Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39024057A>T	NCI-TCGA
SOS1	Q07889	p.Ser385Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39024059T>C	NCI-TCGA
SOS1	Q07889	p.Glu388Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39024048T>A	NCI-TCGA
SOS1	Q07889	p.Ile390Met	rs1380491347	missense variant	-	NC_000002.12:g.39024042T>C	gnomAD
SOS1	Q07889	p.Ile390TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.39024044T>-	NCI-TCGA
SOS1	Q07889	p.Ile390AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.39024043_39024044insT	NCI-TCGA
SOS1	Q07889	p.Ser392Cys	rs749523988	missense variant	-	NC_000002.12:g.39024037G>C	ExAC,gnomAD
SOS1	Q07889	p.Ser392Phe	COSM3426438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39024037G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Ser392Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39024037G>T	NCI-TCGA
SOS1	Q07889	p.Ala404Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39023218C>T	NCI-TCGA
SOS1	Q07889	p.Phe407Tyr	rs1159603423	missense variant	-	NC_000002.12:g.39023208A>T	TOPMed,gnomAD
SOS1	Q07889	p.Gln411Leu	rs1362525333	missense variant	-	NC_000002.12:g.39023196T>A	gnomAD
SOS1	Q07889	p.Met412Ile	COSM4390000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39023192C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Gln416Pro	rs1450272995	missense variant	-	NC_000002.12:g.39023181T>G	TOPMed
SOS1	Q07889	p.Leu417Pro	rs1181175917	missense variant	-	NC_000002.12:g.39023178A>G	gnomAD
SOS1	Q07889	p.Leu417Val	COSM721020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39023179G>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Ala418Pro	rs1361403262	missense variant	-	NC_000002.12:g.39023176C>G	TOPMed
SOS1	Q07889	p.Lys421Met	rs769027463	missense variant	-	NC_000002.12:g.39023166T>A	ExAC,gnomAD
SOS1	Q07889	p.Met422Ile	rs1212129369	missense variant	-	NC_000002.12:g.39023162C>T	gnomAD
SOS1	Q07889	p.Met422Val	VAR_066037	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Asn423Lys	RCV000159188	missense variant	-	NC_000002.12:g.39023159G>C	ClinVar
SOS1	Q07889	p.Asn423Asp	rs747558911	missense variant	-	NC_000002.12:g.39023161T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn423Lys	rs138459502	missense variant	-	NC_000002.12:g.39023159G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu424Gly	RCV000159160	missense variant	-	NC_000002.12:g.39023157T>C	ClinVar
SOS1	Q07889	p.Glu424Gly	RCV000795849	missense variant	Rasopathy	NC_000002.12:g.39023157T>C	ClinVar
SOS1	Q07889	p.Glu424Gly	rs730881042	missense variant	-	NC_000002.12:g.39023157T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu424Lys	rs730881041	missense variant	-	NC_000002.12:g.39023158C>T	ExAC,gnomAD
SOS1	Q07889	p.Glu424Lys	RCV000159159	missense variant	-	NC_000002.12:g.39023158C>T	ClinVar
SOS1	Q07889	p.Gln426Lys	RCV000680953	missense variant	-	NC_000002.12:g.39023152G>T	ClinVar
SOS1	Q07889	p.Gln426Lys	RCV000800990	missense variant	Rasopathy	NC_000002.12:g.39023152G>T	ClinVar
SOS1	Q07889	p.Lys427_Asp430delinsAsn	VAR_066039	deletion_insertion	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Ile429Thr	rs755862687	missense variant	-	NC_000002.12:g.39023142A>G	ExAC,gnomAD
SOS1	Q07889	p.Asp430Ala	COSM1020879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39023139T>G	NCI-TCGA Cosmic
SOS1	Q07889	p.Asp430Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39023140C>A	NCI-TCGA
SOS1	Q07889	p.Gly431Ser	rs1223347034	missense variant	-	NC_000002.12:g.39023137C>T	TOPMed
SOS1	Q07889	p.Gly431Val	rs752423932	missense variant	-	NC_000002.12:g.39023136C>A	ExAC,gnomAD
SOS1	Q07889	p.Trp432Arg	rs267607080	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39023134A>G	-
SOS1	Q07889	p.Trp432Arg	rs267607080	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023134A>G	UniProt,dbSNP
SOS1	Q07889	p.Trp432Arg	VAR_030428	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023134A>G	UniProt
SOS1	Q07889	p.Trp432Arg	RCV000818949	missense variant	Rasopathy	NC_000002.12:g.39023134A>G	ClinVar
SOS1	Q07889	p.Trp432Arg	RCV000211853	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023134A>G	ClinVar
SOS1	Q07889	p.Trp432Arg	RCV000013733	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023134A>G	ClinVar
SOS1	Q07889	p.Trp432Arg	RCV000159161	missense variant	-	NC_000002.12:g.39023134A>G	ClinVar
SOS1	Q07889	p.Trp432_Glu433del	VAR_066040	inframe_deletion	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Glu433Lys	RCV000038513	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023131C>T	ClinVar
SOS1	Q07889	p.Glu433Lys	rs397517147	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023131C>T	UniProt,dbSNP
SOS1	Q07889	p.Glu433Lys	VAR_030429	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023131C>T	UniProt
SOS1	Q07889	p.Glu433Lys	rs397517147	missense variant	-	NC_000002.12:g.39023131C>T	gnomAD
SOS1	Q07889	p.Glu433Lys	RCV000157692	missense variant	-	NC_000002.12:g.39023131C>T	ClinVar
SOS1	Q07889	p.Glu433Lys	RCV000467110	missense variant	Rasopathy	NC_000002.12:g.39023131C>T	ClinVar
SOS1	Q07889	p.Gly434Lys	RCV000159179	missense variant	Rasopathy	NC_000002.12:g.39023127_39023128delinsTT	ClinVar
SOS1	Q07889	p.Gly434Glu	rs1264285931	missense variant	-	NC_000002.12:g.39023127C>T	TOPMed
SOS1	Q07889	p.Gly434Arg	rs397517148	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023128C>T	UniProt,dbSNP
SOS1	Q07889	p.Gly434Arg	VAR_030430	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023128C>T	UniProt
SOS1	Q07889	p.Gly434Arg	rs397517148	missense variant	-	NC_000002.12:g.39023128C>T	-
SOS1	Q07889	p.Gly434Lys	rs730881048	missense variant	-	NC_000002.12:g.39023127_39023128delinsTT	-
SOS1	Q07889	p.Gly434Arg	RCV000788323	missense variant	-	NC_000002.12:g.39023128C>T	ClinVar
SOS1	Q07889	p.Gly434Arg	RCV000781878	missense variant	Rasopathy	NC_000002.12:g.39023128C>T	ClinVar
SOS1	Q07889	p.Gly434Arg	RCV000626886	missense variant	Pulmonic stenosis	NC_000002.12:g.39023128C>T	ClinVar
SOS1	Q07889	p.Gly434Arg	RCV000038514	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023128C>T	ClinVar
SOS1	Q07889	p.Lys435Glu	rs138920742	missense variant	-	NC_000002.12:g.39023125T>C	ESP,TOPMed
SOS1	Q07889	p.Asp436His	rs1402768479	missense variant	-	NC_000002.12:g.39023122C>G	gnomAD
SOS1	Q07889	p.Ile437Thr	RCV000159164	missense variant	-	NC_000002.12:g.39023118A>G	ClinVar
SOS1	Q07889	p.Ile437Ser	rs397517150	missense variant	-	NC_000002.12:g.39023118A>C	-
SOS1	Q07889	p.Ile437Thr	RCV000474085	missense variant	Rasopathy	NC_000002.12:g.39023118A>G	ClinVar
SOS1	Q07889	p.Ile437Ser	RCV000159165	missense variant	-	NC_000002.12:g.39023118A>C	ClinVar
SOS1	Q07889	p.Ile437Thr	rs397517150	missense variant	-	NC_000002.12:g.39023118A>G	-
SOS1	Q07889	p.Ile437Thr	rs397517150	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023118A>G	UniProt,dbSNP
SOS1	Q07889	p.Ile437Thr	VAR_066042	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023118A>G	UniProt
SOS1	Q07889	p.Ile437Thr	RCV000038516	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023118A>G	ClinVar
SOS1	Q07889	p.Gln439Pro	rs1057517861	missense variant	-	NC_000002.12:g.39023112T>G	TOPMed
SOS1	Q07889	p.Gln439Arg	rs1057517861	missense variant	-	NC_000002.12:g.39023112T>C	TOPMed
SOS1	Q07889	p.Gln439Pro	RCV000414005	missense variant	-	NC_000002.12:g.39023112T>G	ClinVar
SOS1	Q07889	p.Cys440Phe	rs1274358093	missense variant	-	NC_000002.12:g.39023109C>A	TOPMed,gnomAD
SOS1	Q07889	p.Cys441Tyr	RCV000154314	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023106C>T	ClinVar
SOS1	Q07889	p.Cys441Tyr	RCV000534974	missense variant	Rasopathy	NC_000002.12:g.39023106C>T	ClinVar
SOS1	Q07889	p.Cys441Tyr	rs727504295	missense variant	-	NC_000002.12:g.39023106C>T	-
SOS1	Q07889	p.Cys441Phe	COSM3581522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39023106C>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Cys441Tyr	RCV000159166	missense variant	-	NC_000002.12:g.39023106C>T	ClinVar
SOS1	Q07889	p.Met446Ile	rs751528749	missense variant	-	NC_000002.12:g.39023090C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met446Leu	COSM721021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39023092T>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Glu447Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39023089C>T	NCI-TCGA
SOS1	Q07889	p.Thr449Asn	rs1299224105	missense variant	-	NC_000002.12:g.39023082G>T	gnomAD
SOS1	Q07889	p.Thr451Lys	rs730880218	missense variant	-	NC_000002.12:g.39023076G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr451Arg	RCV000471377	missense variant	Rasopathy	NC_000002.12:g.39023076G>C	ClinVar
SOS1	Q07889	p.Thr451Ile	rs730880218	missense variant	-	NC_000002.12:g.39023076G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr451Arg	rs730880218	missense variant	-	NC_000002.12:g.39023076G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr451Arg	RCV000587209	missense variant	-	NC_000002.12:g.39023076G>C	ClinVar
SOS1	Q07889	p.Thr451Lys	RCV000157508	missense variant	Multiple cafe-au-lait spots	NC_000002.12:g.39023076G>T	ClinVar
SOS1	Q07889	p.Arg452Cys	rs1158553537	missense variant	-	NC_000002.12:g.39023074G>A	gnomAD
SOS1	Q07889	p.Gly454Glu	COSM4876475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39023067C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.His457Arg	RCV000474019	missense variant	Rasopathy	NC_000002.12:g.39023058T>C	ClinVar
SOS1	Q07889	p.His457Arg	rs1060503524	missense variant	-	NC_000002.12:g.39023058T>C	-
SOS1	Q07889	p.Glu458Asp	RCV000353861	missense variant	-	NC_000002.12:g.39023054C>G	ClinVar
SOS1	Q07889	p.Glu458Asp	rs886042040	missense variant	-	NC_000002.12:g.39023054C>G	-
SOS1	Q07889	p.Glu458Lys	COSM1306789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39023056C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Ile461Val	rs1175506046	missense variant	-	NC_000002.12:g.39023047T>C	TOPMed
SOS1	Q07889	p.Phe462Tyr	RCV000159167	missense variant	-	NC_000002.12:g.39023043A>T	ClinVar
SOS1	Q07889	p.Phe462Tyr	rs730881043	missense variant	-	NC_000002.12:g.39023043A>T	TOPMed,gnomAD
SOS1	Q07889	p.Leu463Val	rs762150157	missense variant	-	NC_000002.12:g.39023041G>C	ExAC,gnomAD
SOS1	Q07889	p.Leu463Ile	COSM1020878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39023041G>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Asp465His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39023035C>G	NCI-TCGA
SOS1	Q07889	p.Leu467Val	COSM3407857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39023029A>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Cys471Tyr	RCV000595629	missense variant	-	NC_000002.12:g.39023016C>T	ClinVar
SOS1	Q07889	p.Cys471Ser	RCV000038517	missense variant	-	NC_000002.12:g.39023016C>G	ClinVar
SOS1	Q07889	p.Cys471Ser	rs397517151	missense variant	-	NC_000002.12:g.39023016C>G	gnomAD
SOS1	Q07889	p.Cys471Tyr	rs397517151	missense variant	-	NC_000002.12:g.39023016C>T	gnomAD
SOS1	Q07889	p.Asn474Ser	rs776796335	missense variant	-	NC_000002.12:g.39023007T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn474Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39023006A>C	NCI-TCGA
SOS1	Q07889	p.Gly476Ala	rs1448577878	missense variant	-	NC_000002.12:g.39023001C>G	gnomAD
SOS1	Q07889	p.Gln477Arg	rs730881044	missense variant	-	NC_000002.12:g.39022998T>C	-
SOS1	Q07889	p.Gln477Arg	RCV000159168	missense variant	-	NC_000002.12:g.39022998T>C	ClinVar
SOS1	Q07889	p.Gln477Lys	rs397517152	missense variant	-	NC_000002.12:g.39022999G>T	-
SOS1	Q07889	p.Gln477Lys	RCV000038518	missense variant	-	NC_000002.12:g.39022999G>T	ClinVar
SOS1	Q07889	p.Pro478Leu	rs1553356111	missense variant	-	NC_000002.12:g.39022995G>A	UniProt,dbSNP
SOS1	Q07889	p.Pro478Leu	VAR_066043	missense variant	-	NC_000002.12:g.39022995G>A	UniProt
SOS1	Q07889	p.Pro478Leu	rs1553356111	missense variant	-	NC_000002.12:g.39022995G>A	-
SOS1	Q07889	p.Pro478Ala	rs769098661	missense variant	-	NC_000002.12:g.39022996G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro478Leu	RCV000612204	missense variant	-	NC_000002.12:g.39022995G>A	ClinVar
SOS1	Q07889	p.Pro478Ser	COSM1020877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39022996G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Pro478Arg	VAR_066044	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Pro481Leu	rs730880383	missense variant	-	NC_000002.12:g.39022986G>A	-
SOS1	Q07889	p.Pro481Leu	RCV000157695	missense variant	-	NC_000002.12:g.39022986G>A	ClinVar
SOS1	Q07889	p.Gly482Arg	rs1431574387	missense variant	-	NC_000002.12:g.39022984C>G	TOPMed
SOS1	Q07889	p.Gly482Arg	rs1431574387	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022984C>G	UniProt,dbSNP
SOS1	Q07889	p.Gly482Arg	VAR_066045	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022984C>G	UniProt
SOS1	Q07889	p.Ser484Arg	rs730880384	missense variant	-	NC_000002.12:g.39022976G>T	ExAC,gnomAD
SOS1	Q07889	p.Ser484Arg	RCV000157696	missense variant	-	NC_000002.12:g.39022976G>T	ClinVar
SOS1	Q07889	p.Asn485Ser	RCV000780746	missense variant	-	NC_000002.12:g.39022974T>C	ClinVar
SOS1	Q07889	p.Asn485Ser	rs140671910	missense variant	-	NC_000002.12:g.39022974T>C	ESP,TOPMed
SOS1	Q07889	p.Ala486Gly	rs373737492	missense variant	-	NC_000002.12:g.39022971G>C	ESP,TOPMed
SOS1	Q07889	p.Glu487Lys	RCV000414536	missense variant	-	NC_000002.12:g.39022969C>T	ClinVar
SOS1	Q07889	p.Glu487Lys	rs1057517897	missense variant	-	NC_000002.12:g.39022969C>T	-
SOS1	Q07889	p.Arg489His	rs994463655	missense variant	-	NC_000002.12:g.39022962C>T	TOPMed
SOS1	Q07889	p.Arg489Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022963G>A	NCI-TCGA
SOS1	Q07889	p.Leu490Arg	VAR_066046	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Glu492Gly	rs1347617225	missense variant	-	NC_000002.12:g.39022953T>C	TOPMed
SOS1	Q07889	p.Glu492Lys	COSM3426437	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39022954C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Glu492Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022954C>G	NCI-TCGA
SOS1	Q07889	p.Phe494Leu	rs560485707	missense variant	-	NC_000002.12:g.39022946A>C	1000Genomes
SOS1	Q07889	p.Phe494ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.39022949_39022950insT	NCI-TCGA
SOS1	Q07889	p.Arg497Gln	RCV000038519	missense variant	-	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Arg497Gln	RCV000801491	missense variant	Rasopathy	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Arg497Gln	rs371314838	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022938C>T	UniProt,dbSNP
SOS1	Q07889	p.Arg497Gln	VAR_064506	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022938C>T	UniProt
SOS1	Q07889	p.Arg497Gln	rs371314838	missense variant	-	NC_000002.12:g.39022938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg497Gln	RCV000761020	missense variant	Low Grade Glioma	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Arg497Ter	COSM1668861	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39022939G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Arg497Gln	RCV000156991	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Arg497Gln	RCV000656980	missense variant	-	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Val499Leu	rs1315811250	missense variant	-	NC_000002.12:g.39022933C>A	TOPMed
SOS1	Q07889	p.Val499Ala	rs747840148	missense variant	-	NC_000002.12:g.39022932A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val499Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022932A>T	NCI-TCGA
SOS1	Q07889	p.Asp503His	rs1264856949	missense variant	-	NC_000002.12:g.39022921C>G	TOPMed
SOS1	Q07889	p.Asp503Val	rs1470603059	missense variant	-	NC_000002.12:g.39022920T>A	gnomAD
SOS1	Q07889	p.Thr507Pro	rs1408893602	missense variant	-	NC_000002.12:g.39022909T>G	gnomAD
SOS1	Q07889	p.Asn508Ser	rs751404198	missense variant	-	NC_000002.12:g.39022905T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn508His	rs754823642	missense variant	-	NC_000002.12:g.39022906T>G	ExAC,gnomAD
SOS1	Q07889	p.Glu509Lys	COSM1020876	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39022903C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Glu509Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022901T>A	NCI-TCGA
SOS1	Q07889	p.Tyr510His	RCV000593003	missense variant	-	NC_000002.12:g.39022900A>G	ClinVar
SOS1	Q07889	p.Tyr510His	rs201404055	missense variant	-	NC_000002.12:g.39022900A>G	ExAC,gnomAD
SOS1	Q07889	p.Tyr510Asn	rs201404055	missense variant	-	NC_000002.12:g.39022900A>T	ExAC,gnomAD
SOS1	Q07889	p.Lys511Arg	rs758393921	missense variant	-	NC_000002.12:g.39022896T>C	ExAC,gnomAD
SOS1	Q07889	p.His512Leu	rs781159925	missense variant	-	NC_000002.12:g.39022893T>A	gnomAD
SOS1	Q07889	p.His512Arg	rs781159925	missense variant	-	NC_000002.12:g.39022893T>C	gnomAD
SOS1	Q07889	p.Ala513Ser	rs368049212	missense variant	-	NC_000002.12:g.39022891C>A	ESP
SOS1	Q07889	p.Phe514Leu	rs561772850	missense variant	-	NC_000002.12:g.39022888A>G	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Lys519Glu	rs1006899351	missense variant	-	NC_000002.12:g.39022873T>C	TOPMed
SOS1	Q07889	p.Asp520Gly	rs1201240700	missense variant	-	NC_000002.12:g.39022869T>C	gnomAD
SOS1	Q07889	p.Asp520Asn	rs754115060	missense variant	-	NC_000002.12:g.39022870C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp520Tyr	rs754115060	missense variant	-	NC_000002.12:g.39022870C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu521Lys	rs764275648	missense variant	-	NC_000002.12:g.39022867C>T	ExAC,gnomAD
SOS1	Q07889	p.Asn522His	rs761094509	missense variant	-	NC_000002.12:g.39022864T>G	ExAC,gnomAD
SOS1	Q07889	p.Asn522His	RCV000764406	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39022864T>G	ClinVar
SOS1	Q07889	p.Asn522His	RCV000217384	missense variant	-	NC_000002.12:g.39022864T>G	ClinVar
SOS1	Q07889	p.Ser523Arg	rs772693927	missense variant	-	NC_000002.12:g.39022859A>C	ExAC,TOPMed
SOS1	Q07889	p.Ser523Asn	rs1156669922	missense variant	-	NC_000002.12:g.39022860C>T	TOPMed
SOS1	Q07889	p.Ile525Thr	RCV000350752	missense variant	-	NC_000002.12:g.39022854A>G	ClinVar
SOS1	Q07889	p.Ile525Thr	rs146722878	missense variant	-	NC_000002.12:g.39022854A>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile525Thr	RCV000578082	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022854A>G	ClinVar
SOS1	Q07889	p.Ile525Val	rs1359371990	missense variant	-	NC_000002.12:g.39022855T>C	gnomAD
SOS1	Q07889	p.Ser527Pro	rs1160582057	missense variant	-	NC_000002.12:g.39022849A>G	TOPMed
SOS1	Q07889	p.Glu533Lys	rs780038520	missense variant	-	NC_000002.12:g.39022831C>T	gnomAD
SOS1	Q07889	p.Asn535Ile	rs772531990	missense variant	-	NC_000002.12:g.39022824T>A	ExAC,gnomAD
SOS1	Q07889	p.Asn535Thr	rs772531990	missense variant	-	NC_000002.12:g.39022824T>G	ExAC,gnomAD
SOS1	Q07889	p.Asn535Ser	COSM6158250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39022824T>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Asn536Ser	rs1363908468	missense variant	-	NC_000002.12:g.39022821T>C	TOPMed
SOS1	Q07889	p.Met538Thr	rs1304003551	missense variant	-	NC_000002.12:g.39022815A>G	TOPMed
SOS1	Q07889	p.Met538Ile	rs1333124172	missense variant	-	NC_000002.12:g.39022814C>T	TOPMed
SOS1	Q07889	p.Ile542Met	rs746798986	missense variant	-	NC_000002.12:g.39022802T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile542Val	rs768230059	missense variant	-	NC_000002.12:g.39022804T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile542Met	RCV000373537	missense variant	-	NC_000002.12:g.39022802T>C	ClinVar
SOS1	Q07889	p.Ser543Pro	rs981234810	missense variant	-	NC_000002.12:g.39022801A>G	gnomAD
SOS1	Q07889	p.Ser543Pro	RCV000588660	missense variant	-	NC_000002.12:g.39022801A>G	ClinVar
SOS1	Q07889	p.Ser543Pro	RCV000414260	missense variant	-	NC_000002.12:g.39022801A>G	ClinVar
SOS1	Q07889	p.Gln545Arg	rs779879442	missense variant	-	NC_000002.12:g.39022794T>C	ExAC,gnomAD
SOS1	Q07889	p.Arg547Gln	rs149775695	missense variant	-	NC_000002.12:g.39022788C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser548Arg	RCV000159171	missense variant	-	NC_000002.12:g.39022784A>T	ClinVar
SOS1	Q07889	p.Ser548Arg	rs397517149	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022786T>G	UniProt,dbSNP
SOS1	Q07889	p.Ser548Arg	VAR_030432	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022786T>G	UniProt
SOS1	Q07889	p.Ser548Arg	rs730881045	missense variant	-	NC_000002.12:g.39022784A>T	-
SOS1	Q07889	p.Ser548Gly	COSM4926301	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39022786T>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Ser548Arg	RCV000623399	missense variant	Inborn genetic diseases	NC_000002.12:g.39022786T>G	ClinVar
SOS1	Q07889	p.Thr549Ala	RCV000681394	missense variant	-	NC_000002.12:g.39022783T>C	ClinVar
SOS1	Q07889	p.Thr549Lys	RCV000696409	missense variant	Rasopathy	NC_000002.12:g.39022782G>T	ClinVar
SOS1	Q07889	p.Thr549Lys	RCV000780747	missense variant	-	NC_000002.12:g.39022782G>T	ClinVar
SOS1	Q07889	p.Leu550Pro	RCV000159172	missense variant	-	NC_000002.12:g.39022779A>G	ClinVar
SOS1	Q07889	p.Leu550Pro	rs397517153	missense variant	-	NC_000002.12:g.39022779A>G	gnomAD
SOS1	Q07889	p.Leu550Pro	rs397517153	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022779A>G	UniProt,dbSNP
SOS1	Q07889	p.Leu550Pro	VAR_030433	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022779A>G	UniProt
SOS1	Q07889	p.Leu550Arg	rs397517153	missense variant	-	NC_000002.12:g.39022779A>C	gnomAD
SOS1	Q07889	p.Leu550Pro	RCV000550001	missense variant	Rasopathy	NC_000002.12:g.39022779A>G	ClinVar
SOS1	Q07889	p.Leu550Pro	RCV000038520	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022779A>G	ClinVar
SOS1	Q07889	p.Glu551Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022777C>T	NCI-TCGA
SOS1	Q07889	p.Arg552Thr	RCV000528274	missense variant	Rasopathy	NC_000002.12:g.39022773C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000013732	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000763086	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000013731	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000159174	missense variant	Rasopathy	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Met	rs397517154	missense variant	-	NC_000002.12:g.39022773C>A	gnomAD
SOS1	Q07889	p.Arg552Met	rs397517154	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>A	UniProt,dbSNP
SOS1	Q07889	p.Arg552Met	VAR_066048	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>A	UniProt
SOS1	Q07889	p.Arg552Trp	rs137852814	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39022774T>A	TOPMed,gnomAD
SOS1	Q07889	p.Arg552Ser	rs267607079	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39022772C>G	-
SOS1	Q07889	p.Arg552Lys	rs397517154	missense variant	-	NC_000002.12:g.39022773C>T	gnomAD
SOS1	Q07889	p.Arg552Lys	rs397517154	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>T	UniProt,dbSNP
SOS1	Q07889	p.Arg552Lys	VAR_030435	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>T	UniProt
SOS1	Q07889	p.Arg552Thr	rs397517154	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>G	UniProt,dbSNP
SOS1	Q07889	p.Arg552Thr	VAR_066049	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>G	UniProt
SOS1	Q07889	p.Arg552Ser	RCV000156992	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000787998	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000654947	missense variant	Rasopathy	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Thr	RCV000626887	missense variant	-	NC_000002.12:g.39022773C>G	ClinVar
SOS1	Q07889	p.Arg552Thr	RCV000159176	missense variant	-	NC_000002.12:g.39022773C>G	ClinVar
SOS1	Q07889	p.Arg552Trp	RCV000787999	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39022774T>A	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000156980	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Thr	RCV000208093	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022773C>G	ClinVar
SOS1	Q07889	p.Arg552Met	RCV000787996	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39022773C>A	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000157693	missense variant	-	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000515160	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000149832	missense variant	Rasopathy	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000038525	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000159177	missense variant	-	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Gly	rs137852814	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022774T>C	UniProt,dbSNP
SOS1	Q07889	p.Arg552Gly	VAR_030434	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022774T>C	UniProt
SOS1	Q07889	p.Arg552Gly	rs137852814	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39022774T>C	TOPMed,gnomAD
SOS1	Q07889	p.Arg552Ser	rs267607079	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39022772C>A	-
SOS1	Q07889	p.Arg552Ser	rs267607079	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022772C>A	UniProt,dbSNP
SOS1	Q07889	p.Arg552Ser	VAR_030436	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022772C>A	UniProt
SOS1	Q07889	p.Arg552Thr	rs397517154	missense variant	-	NC_000002.12:g.39022773C>G	gnomAD
SOS1	Q07889	p.Arg552Lys	RCV000159175	missense variant	-	NC_000002.12:g.39022773C>T	ClinVar
SOS1	Q07889	p.Arg552Lys	RCV000157017	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022773C>T	ClinVar
SOS1	Q07889	p.Arg552Lys	RCV000587705	missense variant	Noonan syndrome 3 (NS3)	NC_000002.12:g.39022773C>T	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000213008	missense variant	-	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000787997	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000515298	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Met553Ile	rs886056025	missense variant	-	NC_000002.12:g.39022769C>T	-
SOS1	Q07889	p.Met553Ile	RCV000375653	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022769C>T	ClinVar
SOS1	Q07889	p.Met553Ile	RCV000337250	missense variant	-	NC_000002.12:g.39022769C>T	ClinVar
SOS1	Q07889	p.Leu554Phe	rs757341897	missense variant	-	NC_000002.12:g.39022768G>A	ExAC,gnomAD
SOS1	Q07889	p.Leu554_Met558delinsLys	VAR_066050	deletion_insertion	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Asp555His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022765C>G	NCI-TCGA
SOS1	Q07889	p.Val556Leu	rs753909912	missense variant	-	NC_000002.12:g.39022762C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val556Leu	rs753909912	missense variant	-	NC_000002.12:g.39022762C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val556Ile	rs753909912	missense variant	-	NC_000002.12:g.39022762C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr557Pro	rs1427526552	missense variant	-	NC_000002.12:g.39022759T>G	TOPMed,gnomAD
SOS1	Q07889	p.Thr557Arg	rs1245953394	missense variant	-	NC_000002.12:g.39022758G>C	gnomAD
SOS1	Q07889	p.Met558Ile	rs753055115	missense variant	-	NC_000002.12:g.39022754C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met558Val	rs371295853	missense variant	-	NC_000002.12:g.39022756T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met558Thr	rs201624023	missense variant	-	NC_000002.12:g.39022755A>G	1000Genomes,TOPMed
SOS1	Q07889	p.Glu561Gly	rs181132805	missense variant	-	NC_000002.12:g.39022746T>C	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Glu561Lys	rs1393222137	missense variant	-	NC_000002.12:g.39022747C>T	TOPMed
SOS1	Q07889	p.Glu562Asp	rs199778219	missense variant	-	NC_000002.12:g.39022742C>G	1000Genomes,TOPMed
SOS1	Q07889	p.Glu562Asp	rs199778219	missense variant	-	NC_000002.12:g.39022742C>A	1000Genomes,TOPMed
SOS1	Q07889	p.Lys563Arg	rs774944155	missense variant	-	NC_000002.12:g.39022740T>C	ExAC,gnomAD
SOS1	Q07889	p.Glu564Ala	rs571743548	missense variant	-	NC_000002.12:g.39022737T>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu564Lys	rs1386900583	missense variant	-	NC_000002.12:g.39022738C>T	gnomAD
SOS1	Q07889	p.Glu564Gly	rs571743548	missense variant	-	NC_000002.12:g.39022737T>C	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu564GlyPheSerTerUnk	COSM1408045	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39022736_39022737CT>-	NCI-TCGA Cosmic
SOS1	Q07889	p.Glu565Lys	rs1423209129	missense variant	-	NC_000002.12:g.39022735C>T	gnomAD
SOS1	Q07889	p.Gln566His	rs1313575751	missense variant	-	NC_000002.12:g.39022730C>G	TOPMed
SOS1	Q07889	p.Met567Thr	rs1408544158	missense variant	-	NC_000002.12:g.39022728A>G	gnomAD
SOS1	Q07889	p.Leu569Val	rs200786705	missense variant	-	NC_000002.12:g.39022723G>C	UniProt,dbSNP
SOS1	Q07889	p.Leu569Val	VAR_066051	missense variant	-	NC_000002.12:g.39022723G>C	UniProt
SOS1	Q07889	p.Leu569Val	rs200786705	missense variant	-	NC_000002.12:g.39022723G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu569Val	RCV000223591	missense variant	-	NC_000002.12:g.39022723G>C	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000155902	missense variant	-	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000284494	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000764405	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	rs727504641	missense variant	-	NC_000002.12:g.39022708C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val574Ile	RCV000586070	missense variant	-	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000376698	missense variant	-	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000654926	missense variant	Rasopathy	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Arg576Ile	rs1553356023	missense variant	-	NC_000002.12:g.39022701C>A	-
SOS1	Q07889	p.Arg576Ile	RCV000596268	missense variant	-	NC_000002.12:g.39022701C>A	ClinVar
SOS1	Q07889	p.Arg576Lys	COSM1565572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39022701C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Ala578Thr	rs1290072717	missense variant	-	NC_000002.12:g.39022696C>T	gnomAD
SOS1	Q07889	p.Asp581Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022687C>T	NCI-TCGA
SOS1	Q07889	p.Glu583Asp	rs1477519893	missense variant	-	NC_000002.12:g.39022679T>G	gnomAD
SOS1	Q07889	p.Glu584Lys	rs771878514	missense variant	-	NC_000002.12:g.39022678C>T	ExAC,TOPMed
SOS1	Q07889	p.Glu584Gly	rs780325631	missense variant	-	NC_000002.12:g.39022677T>C	gnomAD
SOS1	Q07889	p.Asn585Ser	rs973357107	missense variant	-	NC_000002.12:g.39022674T>C	TOPMed,gnomAD
SOS1	Q07889	p.Asn585Thr	COSM1020873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39022674T>G	NCI-TCGA Cosmic
SOS1	Q07889	p.Ile587Thr	rs1553356018	missense variant	-	NC_000002.12:g.39022668A>G	-
SOS1	Q07889	p.Ile587Val	rs1458063607	missense variant	-	NC_000002.12:g.39022669T>C	TOPMed
SOS1	Q07889	p.Ile587Thr	RCV000520823	missense variant	-	NC_000002.12:g.39022668A>G	ClinVar
SOS1	Q07889	p.Phe588Leu	rs745702386	missense variant	-	NC_000002.12:g.39022666A>G	ExAC,gnomAD
SOS1	Q07889	p.Glu590Gln	rs730881047	missense variant	-	NC_000002.12:g.39022660C>G	TOPMed,gnomAD
SOS1	Q07889	p.Asn591Ser	RCV000523182	missense variant	Rasopathy	NC_000002.12:g.39022656T>C	ClinVar
SOS1	Q07889	p.Asn591Ser	rs757213444	missense variant	-	NC_000002.12:g.39022656T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn591Ser	RCV000606527	missense variant	-	NC_000002.12:g.39022656T>C	ClinVar
SOS1	Q07889	p.Lys595Glu	rs1184345251	missense variant	-	NC_000002.12:g.39022645T>C	TOPMed
SOS1	Q07889	p.Lys595Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022643C>A	NCI-TCGA
SOS1	Q07889	p.Ala596Gly	rs749375187	missense variant	-	NC_000002.12:g.39022641G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala596Asp	rs749375187	missense variant	-	NC_000002.12:g.39022641G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gly597Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022638C>G	NCI-TCGA
SOS1	Q07889	p.Ile598Thr	rs777730053	missense variant	-	NC_000002.12:g.39022635A>G	ExAC,gnomAD
SOS1	Q07889	p.Ile598Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022636T>C	NCI-TCGA
SOS1	Q07889	p.Pro599Thr	rs1474528754	missense variant	-	NC_000002.12:g.39022633G>T	TOPMed
SOS1	Q07889	p.Ile600Val	rs373139450	missense variant	-	NC_000002.12:g.39022630T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile600Leu	rs373139450	missense variant	-	NC_000002.12:g.39022630T>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile600Met	rs767942997	missense variant	-	NC_000002.12:g.39022628A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile601Thr	RCV000681051	missense variant	-	NC_000002.12:g.39022626A>G	ClinVar
SOS1	Q07889	p.Gly604Val	COSM4840590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39022617C>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Thr605Asn	rs755371745	missense variant	-	NC_000002.12:g.39022614G>T	ExAC,gnomAD
SOS1	Q07889	p.Ile607Thr	RCV000589437	missense variant	-	NC_000002.12:g.39022608A>G	ClinVar
SOS1	Q07889	p.Ile607Thr	rs758699499	missense variant	-	NC_000002.12:g.39022608A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile610Thr	RCV000654933	missense variant	Rasopathy	NC_000002.12:g.39022599A>G	ClinVar
SOS1	Q07889	p.Ile610Val	rs763425122	missense variant	-	NC_000002.12:g.39022600T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile610Thr	rs776146535	missense variant	-	NC_000002.12:g.39022599A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu613Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022590A>C	NCI-TCGA
SOS1	Q07889	p.His616Tyr	COSM442890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39022582G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.His616Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39022581T>C	NCI-TCGA
SOS1	Q07889	p.Met617Ile	rs771755730	missense variant	-	NC_000002.12:g.39022577C>A	ExAC,gnomAD
SOS1	Q07889	p.Met617Thr	rs775105134	missense variant	-	NC_000002.12:g.39022578A>G	ExAC,gnomAD
SOS1	Q07889	p.Met617Thr	RCV000654972	missense variant	Rasopathy	NC_000002.12:g.39022578A>G	ClinVar
SOS1	Q07889	p.Asp620Gly	rs1057517918	missense variant	-	NC_000002.12:g.39014846T>C	-
SOS1	Q07889	p.Asp620Gly	RCV000414295	missense variant	-	NC_000002.12:g.39014846T>C	ClinVar
SOS1	Q07889	p.Pro621Leu	rs1282835492	missense variant	-	NC_000002.12:g.39014843G>A	TOPMed
SOS1	Q07889	p.Asn622Ser	rs145443784	missense variant	-	NC_000002.12:g.39014840T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Phe623Val	RCV000156537	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39014838A>C	ClinVar
SOS1	Q07889	p.Phe623Leu	rs1168794388	missense variant	-	NC_000002.12:g.39014836A>C	gnomAD
SOS1	Q07889	p.Phe623Val	rs727505093	missense variant	-	NC_000002.12:g.39014838A>C	-
SOS1	Q07889	p.Phe623Val	RCV000414349	missense variant	-	NC_000002.12:g.39014838A>C	ClinVar
SOS1	Q07889	p.Phe623Ile	VAR_066052	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Arg625Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39014832G>A	NCI-TCGA
SOS1	Q07889	p.Phe627Cys	rs1057518197	missense variant	-	NC_000002.12:g.39014825A>C	-
SOS1	Q07889	p.Phe627Cys	RCV000412837	missense variant	-	NC_000002.12:g.39014825A>C	ClinVar
SOS1	Q07889	p.Tyr631Phe	rs770664679	missense variant	-	NC_000002.12:g.39014813T>A	ExAC,gnomAD
SOS1	Q07889	p.Gln638Pro	rs1186009767	missense variant	-	NC_000002.12:g.39014792T>G	gnomAD
SOS1	Q07889	p.Leu641Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39014784G>T	NCI-TCGA
SOS1	Q07889	p.Ser642Asn	rs1255590207	missense variant	-	NC_000002.12:g.39014780C>T	gnomAD
SOS1	Q07889	p.Ile644Thr	rs769891933	missense variant	-	NC_000002.12:g.39014774A>G	ExAC,gnomAD
SOS1	Q07889	p.Ile644Thr	RCV000475259	missense variant	Rasopathy	NC_000002.12:g.39014774A>G	ClinVar
SOS1	Q07889	p.Ile644Val	rs1196416900	missense variant	-	NC_000002.12:g.39014775T>C	gnomAD
SOS1	Q07889	p.Ile645Thr	rs1356040248	missense variant	-	NC_000002.12:g.39014771A>G	gnomAD
SOS1	Q07889	p.Pro651Ser	rs1180625027	missense variant	-	NC_000002.12:g.39013979G>A	TOPMed,gnomAD
SOS1	Q07889	p.Pro651Leu	rs773205186	missense variant	-	NC_000002.12:g.39013978G>A	ExAC,gnomAD
SOS1	Q07889	p.Glu652Gln	rs1408868952	missense variant	-	NC_000002.12:g.39013976C>G	gnomAD
SOS1	Q07889	p.Pro655Leu	rs56219475	missense variant	-	NC_000002.12:g.39013966G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro655Leu	rs56219475	missense variant	-	NC_000002.12:g.39013966G>A	UniProt,dbSNP
SOS1	Q07889	p.Pro655Leu	VAR_030437	missense variant	-	NC_000002.12:g.39013966G>A	UniProt
SOS1	Q07889	p.Pro655Leu	RCV000038527	missense variant	-	NC_000002.12:g.39013966G>A	ClinVar
SOS1	Q07889	p.Pro655Leu	RCV000755394	missense variant	-	NC_000002.12:g.39013966G>A	ClinVar
SOS1	Q07889	p.Pro655Leu	RCV000149843	missense variant	Rasopathy	NC_000002.12:g.39013966G>A	ClinVar
SOS1	Q07889	p.Pro655Leu	RCV000852770	missense variant	Arrhythmogenic right ventricular cardiomyopathy (ARVD)	NC_000002.12:g.39013966G>A	ClinVar
SOS1	Q07889	p.Thr656Ile	rs1390446172	missense variant	-	NC_000002.12:g.39013963G>A	gnomAD
SOS1	Q07889	p.Thr656Ala	rs1198308466	missense variant	-	NC_000002.12:g.39013964T>C	TOPMed
SOS1	Q07889	p.Glu657Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39013959T>G	NCI-TCGA
SOS1	Q07889	p.Ala658Val	rs1159717692	missense variant	-	NC_000002.12:g.39013957G>A	gnomAD
SOS1	Q07889	p.Asp659Glu	RCV000519258	missense variant	-	NC_000002.12:g.39013953A>T	ClinVar
SOS1	Q07889	p.Asp659Glu	rs1362181978	missense variant	-	NC_000002.12:g.39013953A>T	gnomAD
SOS1	Q07889	p.Asp659Asn	rs768647478	missense variant	-	NC_000002.12:g.39013955C>T	ExAC,gnomAD
SOS1	Q07889	p.Asp659Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39013955C>A	NCI-TCGA
SOS1	Q07889	p.Arg660His	rs1258974608	missense variant	-	NC_000002.12:g.39013951C>T	TOPMed
SOS1	Q07889	p.Arg660Cys	COSM3184144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39013952G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Ile661Val	rs1181488319	missense variant	-	NC_000002.12:g.39013949T>C	NCI-TCGA
SOS1	Q07889	p.Ile661Met	rs747203627	missense variant	-	NC_000002.12:g.39013947T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile661Val	rs1181488319	missense variant	-	NC_000002.12:g.39013949T>C	gnomAD
SOS1	Q07889	p.Ile663Val	RCV000159116	missense variant	-	NC_000002.12:g.39013943T>C	ClinVar
SOS1	Q07889	p.Ile663Met	rs587781172	missense variant	-	NC_000002.12:g.39013941T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile663Lys	rs1048869073	missense variant	-	NC_000002.12:g.39013942A>T	TOPMed,gnomAD
SOS1	Q07889	p.Ile663Val	rs730881024	missense variant	-	NC_000002.12:g.39013943T>C	gnomAD
SOS1	Q07889	p.Ile663Thr	rs1048869073	missense variant	-	NC_000002.12:g.39013942A>G	TOPMed,gnomAD
SOS1	Q07889	p.Ile663Leu	rs730881024	missense variant	-	NC_000002.12:g.39013943T>G	gnomAD
SOS1	Q07889	p.Glu664Gln	rs138555160	missense variant	-	NC_000002.12:g.39013940C>G	ESP,TOPMed,gnomAD
SOS1	Q07889	p.Asn665Lys	rs779262456	missense variant	-	NC_000002.12:g.39013935A>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp667Asn	rs757698688	missense variant	-	NC_000002.12:g.39013931C>T	ExAC,gnomAD
SOS1	Q07889	p.Asp667Glu	rs1369733808	missense variant	-	NC_000002.12:g.39013929A>C	TOPMed
SOS1	Q07889	p.Asp667Tyr	rs757698688	missense variant	-	NC_000002.12:g.39013931C>A	ExAC,gnomAD
SOS1	Q07889	p.Gln668Arg	rs1227177181	missense variant	-	NC_000002.12:g.39013927T>C	gnomAD
SOS1	Q07889	p.Leu670Phe	rs200712930	missense variant	-	NC_000002.12:g.39013920C>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu670Trp	rs1284864769	missense variant	-	NC_000002.12:g.39013921A>C	gnomAD
SOS1	Q07889	p.Leu670Phe	RCV000518853	missense variant	Rasopathy	NC_000002.12:g.39013920C>G	ClinVar
SOS1	Q07889	p.Ser671Thr	rs1060503525	missense variant	-	NC_000002.12:g.39013918C>G	gnomAD
SOS1	Q07889	p.Ser671Thr	RCV000461901	missense variant	Rasopathy	NC_000002.12:g.39013918C>G	ClinVar
SOS1	Q07889	p.Ile682Val	rs1402974688	missense variant	-	NC_000002.12:g.39013886T>C	gnomAD
SOS1	Q07889	p.Pro684Leu	rs397517155	missense variant	-	NC_000002.12:g.39013879G>A	gnomAD
SOS1	Q07889	p.Pro684Leu	RCV000038528	missense variant	-	NC_000002.12:g.39013879G>A	ClinVar
SOS1	Q07889	p.Gln686Leu	rs751118433	missense variant	-	NC_000002.12:g.39013873T>A	ExAC,gnomAD
SOS1	Q07889	p.Leu690Phe	rs758056885	missense variant	-	NC_000002.12:g.39013557T>G	ExAC,gnomAD
SOS1	Q07889	p.Arg694Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39013547G>A	NCI-TCGA
SOS1	Q07889	p.Val697Ile	rs966388444	missense variant	-	NC_000002.12:g.39013538C>T	TOPMed,gnomAD
SOS1	Q07889	p.Val697Leu	rs966388444	missense variant	-	NC_000002.12:g.39013538C>A	TOPMed,gnomAD
SOS1	Q07889	p.Glu698Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39013535C>G	NCI-TCGA
SOS1	Q07889	p.Glu698Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39013535C>T	NCI-TCGA
SOS1	Q07889	p.His699Gln	rs765074047	missense variant	-	NC_000002.12:g.39013530G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Phe701Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39013524G>T	NCI-TCGA
SOS1	Q07889	p.Tyr702Cys	RCV000171288	missense variant	-	NC_000002.12:g.39013522T>C	ClinVar
SOS1	Q07889	p.Tyr702His	RCV000817385	missense variant	Rasopathy	NC_000002.12:g.39013523A>G	ClinVar
SOS1	Q07889	p.Tyr702His	RCV000159124	missense variant	-	NC_000002.12:g.39013523A>G	ClinVar
SOS1	Q07889	p.Tyr702His	rs727505381	missense variant	-	NC_000002.12:g.39013523A>G	gnomAD
SOS1	Q07889	p.Tyr702Cys	rs757094189	missense variant	-	NC_000002.12:g.39013522T>C	ExAC,gnomAD
SOS1	Q07889	p.Tyr702His	RCV000156979	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39013523A>G	ClinVar
SOS1	Q07889	p.Glu705Lys	rs730880385	missense variant	-	NC_000002.12:g.39013514C>T	-
SOS1	Q07889	p.Glu705Lys	RCV000157697	missense variant	-	NC_000002.12:g.39013514C>T	ClinVar
SOS1	Q07889	p.Arg706Ter	COSM721023	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39013511T>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Ala708Thr	RCV000272488	missense variant	-	NC_000002.12:g.39013505C>T	ClinVar
SOS1	Q07889	p.Ala708Thr	RCV000157013	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39013505C>T	ClinVar
SOS1	Q07889	p.Ala708Thr	rs140811086	missense variant	-	NC_000002.12:g.39013505C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala708Thr	rs140811086	missense variant	-	NC_000002.12:g.39013505C>T	UniProt,dbSNP
SOS1	Q07889	p.Ala708Thr	VAR_066053	missense variant	-	NC_000002.12:g.39013505C>T	UniProt
SOS1	Q07889	p.Tyr709His	rs1215947792	missense variant	-	NC_000002.12:g.39013502A>G	gnomAD
SOS1	Q07889	p.Leu710Val	rs900337258	missense variant	-	NC_000002.12:g.39013499G>C	TOPMed
SOS1	Q07889	p.Leu711Ser	rs375759761	missense variant	-	NC_000002.12:g.39013495A>G	ESP
SOS1	Q07889	p.Gln712Lys	rs371894968	missense variant	-	NC_000002.12:g.39013493G>T	ESP
SOS1	Q07889	p.Arg713Gln	rs483352826	missense variant	-	NC_000002.12:g.39013489C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg713Gln	RCV000414070	missense variant	-	NC_000002.12:g.39013489C>T	ClinVar
SOS1	Q07889	p.Arg713Leu	COSM3581521	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39013489C>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Arg713Gln	rs483352826	missense variant	-	NC_000002.12:g.39013489C>T	NCI-TCGA,NCI-TCGA Cosmic
SOS1	Q07889	p.Met714Val	rs767671260	missense variant	-	NC_000002.12:g.39013487T>C	ExAC,gnomAD
SOS1	Q07889	p.Glu715Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39013483T>C	NCI-TCGA
SOS1	Q07889	p.Ile718Thr	rs1040115639	missense variant	-	NC_000002.12:g.39013474A>G	TOPMed
SOS1	Q07889	p.Gly719Ala	RCV000231034	missense variant	Rasopathy	NC_000002.12:g.39013471C>G	ClinVar
SOS1	Q07889	p.Gly719Ala	RCV000159125	missense variant	-	NC_000002.12:g.39013471C>G	ClinVar
SOS1	Q07889	p.Gly719Ala	rs200794965	missense variant	-	NC_000002.12:g.39013471C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr720Ala	rs367634525	missense variant	-	NC_000002.12:g.39013469T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val721Leu	rs771185398	missense variant	-	NC_000002.12:g.39013466C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val721Ile	rs771185398	missense variant	-	NC_000002.12:g.39013466C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg722Lys	RCV000552706	missense variant	Rasopathy	NC_000002.12:g.39013462C>T	ClinVar
SOS1	Q07889	p.Arg722Lys	rs142666652	missense variant	-	NC_000002.12:g.39013462C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Lys728Ile	RCV000495874	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39012333T>A	ClinVar
SOS1	Q07889	p.Trp729Leu	VAR_030439	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Val730Phe	RCV000780755	missense variant	-	NC_000002.12:g.39012328C>A	ClinVar
SOS1	Q07889	p.Glu731Lys	rs1162676680	missense variant	-	NC_000002.12:g.39012325C>T	gnomAD
SOS1	Q07889	p.Glu731Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.39012325C>A	NCI-TCGA
SOS1	Q07889	p.Ile733Leu	rs574088829	missense variant	-	NC_000002.12:g.39012319T>G	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Ile733Phe	rs574088829	missense variant	-	NC_000002.12:g.39012319T>A	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Ile733Phe	rs574088829	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39012319T>A	UniProt,dbSNP
SOS1	Q07889	p.Ile733Phe	VAR_030440	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39012319T>A	UniProt
SOS1	Q07889	p.Ile733Phe	RCV000159127	missense variant	-	NC_000002.12:g.39012319T>A	ClinVar
SOS1	Q07889	p.Thr734Pro	RCV000151923	missense variant	-	NC_000002.12:g.39012316T>G	ClinVar
SOS1	Q07889	p.Thr734Pro	rs727503437	missense variant	-	NC_000002.12:g.39012316T>G	-
SOS1	Q07889	p.Thr734Ser	rs1457312009	missense variant	-	NC_000002.12:g.39012315G>C	TOPMed
SOS1	Q07889	p.Ile736Val	rs752706487	missense variant	-	NC_000002.12:g.39012310T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile736Arg	rs1553354396	missense variant	-	NC_000002.12:g.39012309A>C	-
SOS1	Q07889	p.Ile736Arg	RCV000622891	missense variant	Inborn genetic diseases	NC_000002.12:g.39012309A>C	ClinVar
SOS1	Q07889	p.Gln738His	rs1177817358	missense variant	-	NC_000002.12:g.39012302T>G	TOPMed
SOS1	Q07889	p.Gln738Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39012304G>T	NCI-TCGA
SOS1	Q07889	p.Ile742Met	rs1422160829	missense variant	-	NC_000002.12:g.39012290A>C	TOPMed
SOS1	Q07889	p.Ile742Thr	rs767494615	missense variant	-	NC_000002.12:g.39012291A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile742LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.39012292T>-	NCI-TCGA
SOS1	Q07889	p.Ala743Pro	rs759584440	missense variant	-	NC_000002.12:g.39012289C>G	ExAC,gnomAD
SOS1	Q07889	p.Ala743Pro	RCV000328656	missense variant	-	NC_000002.12:g.39012289C>G	ClinVar
SOS1	Q07889	p.Asp745Asn	rs1250543199	missense variant	-	NC_000002.12:g.39012283C>T	gnomAD
SOS1	Q07889	p.Gly747Ala	rs1264018180	missense variant	-	NC_000002.12:g.39012276C>G	gnomAD
SOS1	Q07889	p.Gly747Arg	rs766572354	missense variant	-	NC_000002.12:g.39012277C>T	ExAC,gnomAD
SOS1	Q07889	p.Asn751Lys	RCV000523565	missense variant	-	NC_000002.12:g.39012263A>C	ClinVar
SOS1	Q07889	p.Asn751Ile	rs1317993786	missense variant	-	NC_000002.12:g.39012264T>A	gnomAD
SOS1	Q07889	p.Asn751Lys	rs1553354376	missense variant	-	NC_000002.12:g.39012263A>C	-
SOS1	Q07889	p.Asn751Ser	rs1317993786	missense variant	-	NC_000002.12:g.39012264T>C	gnomAD
SOS1	Q07889	p.Ile752Met	rs1226577240	missense variant	-	NC_000002.12:g.39012260A>C	gnomAD
SOS1	Q07889	p.Ile752Thr	rs1286463703	missense variant	-	NC_000002.12:g.39012261A>G	gnomAD
SOS1	Q07889	p.Phe754Leu	rs1463290793	missense variant	-	NC_000002.12:g.39012256A>G	TOPMed
SOS1	Q07889	p.Gln755Pro	rs1350115335	missense variant	-	NC_000002.12:g.39012252T>G	gnomAD
SOS1	Q07889	p.Ser756Cys	rs1169062075	missense variant	-	NC_000002.12:g.39012250T>A	TOPMed
SOS1	Q07889	p.Ser757Leu	rs1400210399	missense variant	-	NC_000002.12:g.39012246G>A	TOPMed
SOS1	Q07889	p.Thr760Ile	RCV000159128	missense variant	-	NC_000002.12:g.39012237G>A	ClinVar
SOS1	Q07889	p.Thr760Ile	rs730881027	missense variant	-	NC_000002.12:g.39012237G>A	-
SOS1	Q07889	p.Val761Ala	rs770225695	missense variant	-	NC_000002.12:g.39012234A>G	ExAC,gnomAD
SOS1	Q07889	p.Val761Gly	rs770225695	missense variant	-	NC_000002.12:g.39012234A>C	ExAC,gnomAD
SOS1	Q07889	p.Ser766Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39012219C>A	NCI-TCGA
SOS1	Q07889	p.Ile771Leu	rs1160762647	missense variant	-	NC_000002.12:g.39012205T>G	TOPMed,gnomAD
SOS1	Q07889	p.Ile771Thr	rs557328600	missense variant	-	NC_000002.12:g.39012204A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile771Val	rs1160762647	missense variant	-	NC_000002.12:g.39012205T>C	TOPMed,gnomAD
SOS1	Q07889	p.Ile771Arg	rs557328600	missense variant	-	NC_000002.12:g.39012204A>C	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu772Asp	rs1176763588	missense variant	-	NC_000002.12:g.39012200C>G	gnomAD
SOS1	Q07889	p.Glu772Gly	rs745360437	missense variant	-	NC_000002.12:g.39012201T>C	ExAC,gnomAD
SOS1	Q07889	p.Glu772Asp	RCV000723318	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39012200C>G	ClinVar
SOS1	Q07889	p.Ile782Val	rs778580742	missense variant	-	NC_000002.12:g.39012172T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile784Thr	rs1335137808	missense variant	-	NC_000002.12:g.39012165A>G	TOPMed
SOS1	Q07889	p.Leu790Ser	rs139859866	missense variant	-	NC_000002.12:g.39012147A>G	ESP,TOPMed,gnomAD
SOS1	Q07889	p.Leu791Ile	rs142004123	missense variant	-	NC_000002.12:g.39012145G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu791Ile	RCV000233902	missense variant	Rasopathy	NC_000002.12:g.39012145G>T	ClinVar
SOS1	Q07889	p.Leu791Ile	RCV000680310	missense variant	-	NC_000002.12:g.39012145G>T	ClinVar
SOS1	Q07889	p.Asp794Tyr	rs777387313	missense variant	-	NC_000002.12:g.39012136C>A	ExAC,gnomAD
SOS1	Q07889	p.Asp794Glu	rs1317203797	missense variant	-	NC_000002.12:g.39012134A>T	TOPMed
SOS1	Q07889	p.Pro801Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39010693G>A	NCI-TCGA
SOS1	Q07889	p.Ser802Pro	rs1175809874	missense variant	-	NC_000002.12:g.39010690A>G	gnomAD
SOS1	Q07889	p.Glu812Asp	rs773960091	missense variant	-	NC_000002.12:g.39010658T>G	ExAC,gnomAD
SOS1	Q07889	p.Asp813His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39010657C>G	NCI-TCGA
SOS1	Q07889	p.Arg826Ter	COSM3426436	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39010618G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Thr828Ala	COSM4094175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39010612T>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Asn830Ser	RCV000556321	missense variant	Rasopathy	NC_000002.12:g.39010605T>C	ClinVar
SOS1	Q07889	p.Asn830Ile	RCV000038534	missense variant	-	NC_000002.12:g.39010605T>A	ClinVar
SOS1	Q07889	p.Asn830Ile	rs397517158	missense variant	-	NC_000002.12:g.39010605T>A	ExAC,gnomAD
SOS1	Q07889	p.Asn830Ser	RCV000781876	missense variant	-	NC_000002.12:g.39010605T>C	ClinVar
SOS1	Q07889	p.Asn830Ser	rs397517158	missense variant	-	NC_000002.12:g.39010605T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn830Lys	rs730881029	missense variant	-	NC_000002.12:g.39010604G>C	-
SOS1	Q07889	p.Asn830Ser	RCV000159131	missense variant	-	NC_000002.12:g.39010605T>C	ClinVar
SOS1	Q07889	p.Asn830Lys	RCV000159132	missense variant	-	NC_000002.12:g.39010604G>C	ClinVar
SOS1	Q07889	p.Leu833Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39010597G>T	NCI-TCGA
SOS1	Q07889	p.Cys838Tyr	rs747801798	missense variant	-	NC_000002.12:g.39007191C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile839Val	rs1341382516	missense variant	-	NC_000002.12:g.39007189T>C	gnomAD
SOS1	Q07889	p.Glu841Asp	rs1246892881	missense variant	-	NC_000002.12:g.39007181T>A	gnomAD
SOS1	Q07889	p.Asn844His	rs768457896	missense variant	-	NC_000002.12:g.39007174T>G	ExAC,gnomAD
SOS1	Q07889	p.Glu846Lys	RCV000038535	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39007168C>T	ClinVar
SOS1	Q07889	p.Glu846Lys	rs397517159	missense variant	-	NC_000002.12:g.39007168C>T	-
SOS1	Q07889	p.Glu846Lys	rs397517159	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39007168C>T	UniProt,dbSNP
SOS1	Q07889	p.Glu846Lys	VAR_030441	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39007168C>T	UniProt
SOS1	Q07889	p.Glu846Lys	RCV000207492	missense variant	-	NC_000002.12:g.39007168C>T	ClinVar
SOS1	Q07889	p.Glu846Lys	RCV000763085	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39007168C>T	ClinVar
SOS1	Q07889	p.Glu846Lys	RCV000471633	missense variant	Rasopathy	NC_000002.12:g.39007168C>T	ClinVar
SOS1	Q07889	p.Val849Ile	rs957752399	missense variant	-	NC_000002.12:g.39007159C>T	TOPMed,gnomAD
SOS1	Q07889	p.Ala850Ser	COSM3407856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39007156C>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Val851Leu	rs1306577224	missense variant	-	NC_000002.12:g.39007153C>G	gnomAD
SOS1	Q07889	p.Val852Leu	rs1429582356	missense variant	-	NC_000002.12:g.39007150C>A	gnomAD
SOS1	Q07889	p.Arg854Gln	rs771968591	missense variant	-	NC_000002.12:g.39007143C>T	ExAC,gnomAD
SOS1	Q07889	p.Arg854Ter	COSM1227156	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.39007144G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Ile855Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39007140A>C	NCI-TCGA
SOS1	Q07889	p.Ile856Thr	rs778865680	missense variant	-	NC_000002.12:g.39007137A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu857Asp	rs757460662	missense variant	-	NC_000002.12:g.39007133C>G	ExAC,gnomAD
SOS1	Q07889	p.Ile858Thr	rs1221615450	missense variant	-	NC_000002.12:g.39007131A>G	TOPMed
SOS1	Q07889	p.Ile858Val	rs1182574388	missense variant	-	NC_000002.12:g.39007132T>C	gnomAD
SOS1	Q07889	p.Gln863Lys	rs141501083	missense variant	-	NC_000002.12:g.39007117G>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu864Gln	rs778194173	missense variant	-	NC_000002.12:g.39007114C>G	ExAC,gnomAD
SOS1	Q07889	p.Glu864Asp	rs1482643958	missense variant	-	NC_000002.12:g.39007112C>A	TOPMed,gnomAD
SOS1	Q07889	p.Glu864Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39007114C>T	NCI-TCGA
SOS1	Q07889	p.Asn866Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39007107T>C	NCI-TCGA
SOS1	Q07889	p.Asn869Ser	rs730881030	missense variant	-	NC_000002.12:g.39007098T>C	TOPMed
SOS1	Q07889	p.Asn869Ser	RCV000590000	missense variant	-	NC_000002.12:g.39007098T>C	ClinVar
SOS1	Q07889	p.Val871Ile	rs1354107467	missense variant	-	NC_000002.12:g.39007093C>T	gnomAD
SOS1	Q07889	p.Glu873Ter	RCV000591885	frameshift	-	NC_000002.12:g.39007089del	ClinVar
SOS1	Q07889	p.Val875Ile	rs749878971	missense variant	-	NC_000002.12:g.39007081C>T	ExAC,gnomAD
SOS1	Q07889	p.Ser880Leu	COSM6091620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.39007065G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Val883Ile	rs1346595326	missense variant	-	NC_000002.12:g.39007057C>T	gnomAD
SOS1	Q07889	p.His888Tyr	rs761401536	missense variant	-	NC_000002.12:g.39007042G>A	ExAC,gnomAD
SOS1	Q07889	p.Phe890Leu	rs768337141	missense variant	-	NC_000002.12:g.39007034A>T	ExAC,gnomAD
SOS1	Q07889	p.Glu891Gly	rs760457239	missense variant	-	NC_000002.12:g.39007032T>C	ExAC,gnomAD
SOS1	Q07889	p.Glu891Lys	rs1553353452	missense variant	-	NC_000002.12:g.39007033C>T	-
SOS1	Q07889	p.Glu891Lys	RCV000612075	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39007033C>T	ClinVar
SOS1	Q07889	p.Pro894Arg	RCV000680809	missense variant	-	NC_000002.12:g.39006522G>C	ClinVar
SOS1	Q07889	p.Pro894Arg	rs1367714753	missense variant	-	NC_000002.12:g.39006522G>C	TOPMed
SOS1	Q07889	p.Pro894Arg	rs1367714753	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39006522G>C	UniProt,dbSNP
SOS1	Q07889	p.Pro894Arg	VAR_066055	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39006522G>C	UniProt
SOS1	Q07889	p.Ser895Asn	rs1164976822	missense variant	-	NC_000002.12:g.39006519C>T	TOPMed
SOS1	Q07889	p.Ser895Arg	rs1458299436	missense variant	-	NC_000002.12:g.39006520T>G	TOPMed
SOS1	Q07889	p.Arg896Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39006516C>A	NCI-TCGA
SOS1	Q07889	p.Glu909Gly	rs770071107	missense variant	-	NC_000002.12:g.39006477T>C	ExAC,gnomAD
SOS1	Q07889	p.Asp910His	rs369277679	missense variant	-	NC_000002.12:g.39006475C>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp910His	RCV000587071	missense variant	-	NC_000002.12:g.39006475C>G	ClinVar
SOS1	Q07889	p.His911Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.39006470G>T	NCI-TCGA
SOS1	Q07889	p.Lys913Arg	rs755271549	missense variant	-	NC_000002.12:g.39006465T>C	ExAC,gnomAD
SOS1	Q07889	p.Ser921Cys	RCV000598389	missense variant	-	NC_000002.12:g.39006441G>C	ClinVar
SOS1	Q07889	p.Ser921Cys	rs1553353332	missense variant	-	NC_000002.12:g.39006441G>C	-
SOS1	Q07889	p.Ile922Val	rs780420674	missense variant	-	NC_000002.12:g.39006439T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro924Leu	rs1363593816	missense variant	-	NC_000002.12:g.39006432G>A	gnomAD
SOS1	Q07889	p.Val927Met	rs1296970890	missense variant	-	NC_000002.12:g.39006424C>T	gnomAD
SOS1	Q07889	p.Phe930Ser	rs886056024	missense variant	-	NC_000002.12:g.39006414A>G	-
SOS1	Q07889	p.Phe930Ile	RCV000781877	missense variant	-	NC_000002.12:g.39006415A>T	ClinVar
SOS1	Q07889	p.Phe930Ser	RCV000370733	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39006414A>G	ClinVar
SOS1	Q07889	p.Phe930Ser	RCV000313293	missense variant	-	NC_000002.12:g.39006414A>G	ClinVar
SOS1	Q07889	p.Tyr933Cys	rs748306758	missense variant	-	NC_000002.12:g.38997419T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn936Ser	rs776683613	missense variant	-	NC_000002.12:g.38997410T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn936ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38997410_38997411insCAAAG	NCI-TCGA
SOS1	Q07889	p.Asn936Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38997411_38997412insA	NCI-TCGA
SOS1	Q07889	p.Leu938Val	rs566328117	missense variant	-	NC_000002.12:g.38997405A>C	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Leu938Ser	rs1351272513	missense variant	-	NC_000002.12:g.38997404A>G	gnomAD
SOS1	Q07889	p.Leu938Phe	COSM6158252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38997403C>G	NCI-TCGA Cosmic
SOS1	Q07889	p.Lys939Ter	rs1308429073	stop gained	-	NC_000002.12:g.38997402T>A	gnomAD
SOS1	Q07889	p.Glu946Gln	RCV000732278	missense variant	-	NC_000002.12:g.38997381C>G	ClinVar
SOS1	Q07889	p.Arg950Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38997368C>A	NCI-TCGA
SOS1	Q07889	p.His951Gln	rs747320483	missense variant	-	NC_000002.12:g.38997364A>T	ExAC,gnomAD
SOS1	Q07889	p.Glu954Asp	rs1169700752	missense variant	-	NC_000002.12:g.38997355C>G	gnomAD
SOS1	Q07889	p.Glu954Lys	rs780409557	missense variant	-	NC_000002.12:g.38997357C>T	ExAC,gnomAD
SOS1	Q07889	p.Leu955Pro	COSM1408044	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38997353A>G	NCI-TCGA Cosmic
SOS1	Q07889	p.Leu955Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38997354G>A	NCI-TCGA
SOS1	Q07889	p.Ser959Gly	rs746396499	missense variant	-	NC_000002.12:g.38997342T>C	ExAC,gnomAD
SOS1	Q07889	p.Arg962Lys	rs1472263395	missense variant	-	NC_000002.12:g.38997332C>T	gnomAD
SOS1	Q07889	p.Arg962Ser	rs779447717	missense variant	-	NC_000002.12:g.38997331C>G	ExAC
SOS1	Q07889	p.Lys963Arg	rs755549795	missense variant	-	NC_000002.12:g.38997329T>C	ExAC
SOS1	Q07889	p.Glu966Gln	COSM721024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38997321C>G	NCI-TCGA Cosmic
SOS1	Q07889	p.Gln973Leu	rs727505016	missense variant	-	NC_000002.12:g.38997299T>A	-
SOS1	Q07889	p.Gln973Leu	RCV000156440	missense variant	-	NC_000002.12:g.38997299T>A	ClinVar
SOS1	Q07889	p.Gln977Arg	VAR_030442	Missense	-	-	UniProt
SOS1	Q07889	p.Arg982Gln	RCV000588458	missense variant	-	NC_000002.12:g.38997272C>T	ClinVar
SOS1	Q07889	p.Arg982Gln	rs1553351453	missense variant	-	NC_000002.12:g.38997272C>T	-
SOS1	Q07889	p.Ser985Ala	rs754676663	missense variant	-	NC_000002.12:g.38997264A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp986Asn	rs1204444296	missense variant	-	NC_000002.12:g.38997261C>T	TOPMed
SOS1	Q07889	p.Lys988Arg	rs751249845	missense variant	-	NC_000002.12:g.38997254T>C	ExAC,gnomAD
SOS1	Q07889	p.Arg989Lys	RCV000654932	missense variant	Rasopathy	NC_000002.12:g.38997037C>T	ClinVar
SOS1	Q07889	p.Arg989Thr	rs202043599	missense variant	-	NC_000002.12:g.38997037C>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg989Lys	rs202043599	missense variant	-	NC_000002.12:g.38997037C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Phe990Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38997033G>T	NCI-TCGA
SOS1	Q07889	p.Phe991Leu	rs751274973	missense variant	-	NC_000002.12:g.38997030A>C	ExAC,gnomAD
SOS1	Q07889	p.Phe991Met	NCI-TCGA novel	insertion	-	NC_000002.12:g.38997029_38997030insCAT	NCI-TCGA
SOS1	Q07889	p.Phe991Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38997030A>T	NCI-TCGA
SOS1	Q07889	p.Asn993Lys	rs779896678	missense variant	-	NC_000002.12:g.38997024G>C	ExAC,gnomAD
SOS1	Q07889	p.Asn993His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38997026T>G	NCI-TCGA
SOS1	Q07889	p.Pro996Leu	rs200747626	missense variant	-	NC_000002.12:g.38997016G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met997Thr	rs1321926273	missense variant	-	NC_000002.12:g.38997013A>G	gnomAD
SOS1	Q07889	p.Gly998Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.38997011C>A	NCI-TCGA
SOS1	Q07889	p.Asn999Ser	rs765070830	missense variant	-	NC_000002.12:g.38997007T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1000Gly	rs730881031	missense variant	-	NC_000002.12:g.38997005T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1000Asn	RCV000615183	missense variant	-	NC_000002.12:g.38997004C>T	ClinVar
SOS1	Q07889	p.Ser1000Asn	rs891035934	missense variant	-	NC_000002.12:g.38997004C>T	TOPMed
SOS1	Q07889	p.Ser1000Cys	rs730881031	missense variant	-	NC_000002.12:g.38997005T>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1000Cys	RCV000159135	missense variant	-	NC_000002.12:g.38997005T>A	ClinVar
SOS1	Q07889	p.Met1001Val	rs1051002841	missense variant	-	NC_000002.12:g.38997002T>C	TOPMed,gnomAD
SOS1	Q07889	p.Lys1003Ter	rs760717289	stop gained	-	NC_000002.12:g.38996996T>A	ExAC,gnomAD
SOS1	Q07889	p.Lys1003Thr	rs1462821963	missense variant	-	NC_000002.12:g.38996995T>G	TOPMed,gnomAD
SOS1	Q07889	p.Thr1006Ile	rs1193609722	missense variant	-	NC_000002.12:g.38996986G>A	gnomAD
SOS1	Q07889	p.Tyr1008His	rs397517163	missense variant	-	NC_000002.12:g.38996981A>G	-
SOS1	Q07889	p.Tyr1008His	RCV000038544	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38996981A>G	ClinVar
SOS1	Q07889	p.Leu1009Ile	COSM1020870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38996978G>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Asn1011Ser	rs8192671	missense variant	-	NC_000002.12:g.38996971T>C	UniProt,dbSNP
SOS1	Q07889	p.Asn1011Ser	VAR_066056	missense variant	-	NC_000002.12:g.38996971T>C	UniProt
SOS1	Q07889	p.Asn1011Ser	RCV000156997	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38996971T>C	ClinVar
SOS1	Q07889	p.Asn1011Ser	rs8192671	missense variant	-	NC_000002.12:g.38996971T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu1015Lys	rs772348571	missense variant	-	NC_000002.12:g.38996960C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn1020His	rs759883355	missense variant	-	NC_000002.12:g.38996945T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn1020Ser	rs1464623941	missense variant	-	NC_000002.12:g.38996944T>C	gnomAD
SOS1	Q07889	p.Pro1021Leu	rs771279973	missense variant	-	NC_000002.12:g.38996941G>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1026Lys	rs730881032	missense variant	-	NC_000002.12:g.38996926C>T	ExAC,gnomAD
SOS1	Q07889	p.Arg1026Lys	RCV000159136	missense variant	-	NC_000002.12:g.38996926C>T	ClinVar
SOS1	Q07889	p.Arg1026Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38996926C>A	NCI-TCGA
SOS1	Q07889	p.Phe1027Leu	RCV000658013	missense variant	-	NC_000002.12:g.38996922A>T	ClinVar
SOS1	Q07889	p.Phe1027Leu	rs1553351362	missense variant	-	NC_000002.12:g.38996922A>T	-
SOS1	Q07889	p.Lys1030AsnPheSerTerUnk	COSM4615993	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.38995379T>-	NCI-TCGA Cosmic
SOS1	Q07889	p.Tyr1031IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38995378_38995379insT	NCI-TCGA
SOS1	Q07889	p.Tyr1033Cys	rs1483311338	missense variant	-	NC_000002.12:g.38995371T>C	TOPMed
SOS1	Q07889	p.Pro1034Ser	rs1167317994	missense variant	-	NC_000002.12:g.38995369G>A	gnomAD
SOS1	Q07889	p.Pro1034Thr	rs1167317994	missense variant	-	NC_000002.12:g.38995369G>T	gnomAD
SOS1	Q07889	p.Leu1035Ile	rs757046948	missense variant	-	NC_000002.12:g.38995366G>T	ExAC,gnomAD
SOS1	Q07889	p.Ser1037Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38995359G>T	NCI-TCGA
SOS1	Q07889	p.Arg1041His	rs1027223518	missense variant	-	NC_000002.12:g.38995347C>T	TOPMed
SOS1	Q07889	p.Pro1042Gln	rs1166919012	missense variant	-	NC_000002.12:g.38995344G>T	gnomAD
SOS1	Q07889	p.Pro1045Ser	COSM3581518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38995336G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Arg1046Ile	rs1183152828	missense variant	-	NC_000002.12:g.38995332C>A	gnomAD
SOS1	Q07889	p.Gly1048Arg	rs1483281162	missense variant	-	NC_000002.12:g.38995327C>G	gnomAD
SOS1	Q07889	p.Met1050Ile	rs1194032302	missense variant	-	NC_000002.12:g.38995319C>T	gnomAD
SOS1	Q07889	p.Met1050Val	RCV000397079	missense variant	-	NC_000002.12:g.38995321T>C	ClinVar
SOS1	Q07889	p.Met1050Val	rs886041814	missense variant	-	NC_000002.12:g.38995321T>C	TOPMed,gnomAD
SOS1	Q07889	p.Met1050Thr	COSM721025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38995320A>G	NCI-TCGA Cosmic
SOS1	Q07889	p.Arg1051Thr	rs1338626165	missense variant	-	NC_000002.12:g.38995317C>G	gnomAD
SOS1	Q07889	p.Pro1055Thr	rs1246281893	missense variant	-	NC_000002.12:g.38995306G>T	gnomAD
SOS1	Q07889	p.Leu1056CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38995304A>-	NCI-TCGA
SOS1	Q07889	p.Glu1059Gly	rs767619216	missense variant	-	NC_000002.12:g.38995293T>C	ExAC,gnomAD
SOS1	Q07889	p.Ser1066Thr	RCV000681093	missense variant	-	NC_000002.12:g.38995272C>G	ClinVar
SOS1	Q07889	p.Ser1066Arg	rs886041475	missense variant	-	NC_000002.12:g.38995271A>C	-
SOS1	Q07889	p.Ser1066Thr	rs1428068201	missense variant	-	NC_000002.12:g.38995272C>G	TOPMed
SOS1	Q07889	p.Ser1066Gly	rs766546302	missense variant	-	NC_000002.12:g.38995273T>C	ExAC,gnomAD
SOS1	Q07889	p.Ser1066Arg	RCV000380919	missense variant	-	NC_000002.12:g.38995271A>C	ClinVar
SOS1	Q07889	p.Ile1068Met	rs1306515352	missense variant	-	NC_000002.12:g.38995265G>C	gnomAD
SOS1	Q07889	p.Ile1068Asn	COSM4094173	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38995266A>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Ser1071ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38995258T>-	NCI-TCGA
SOS1	Q07889	p.Glu1072Ala	rs142342797	missense variant	-	NC_000002.12:g.38995254T>G	ESP,ExAC,gnomAD
SOS1	Q07889	p.Glu1072Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38995255C>T	NCI-TCGA
SOS1	Q07889	p.Thr1073Lys	rs1391324757	missense variant	-	NC_000002.12:g.38995251G>T	gnomAD
SOS1	Q07889	p.Glu1074Gly	rs773504580	missense variant	-	NC_000002.12:g.38995248T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu1074LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38995248_38995249TC>-	NCI-TCGA
SOS1	Q07889	p.Thr1076Lys	rs762412881	missense variant	-	NC_000002.12:g.38995242G>T	ExAC,gnomAD
SOS1	Q07889	p.Ala1077Thr	rs775100470	missense variant	-	NC_000002.12:g.38995240C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala1079Val	RCV000159137	missense variant	-	NC_000002.12:g.38995233G>A	ClinVar
SOS1	Q07889	p.Ala1079Val	rs730881033	missense variant	-	NC_000002.12:g.38995233G>A	-
SOS1	Q07889	p.Pro1080Ser	rs771728760	missense variant	-	NC_000002.12:g.38995231G>A	ExAC,gnomAD
SOS1	Q07889	p.Ser1082Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38995224G>T	NCI-TCGA
SOS1	Q07889	p.Arg1084Gly	rs1413950512	missense variant	-	NC_000002.12:g.38995219T>C	gnomAD
SOS1	Q07889	p.Arg1084Ter	RCV000013728	frameshift	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.38995222dup	ClinVar
SOS1	Q07889	p.Thr1085Lys	rs745411722	missense variant	-	NC_000002.12:g.38995215G>T	ExAC,gnomAD
SOS1	Q07889	p.Thr1085Ser	rs1332816469	missense variant	-	NC_000002.12:g.38995216T>A	TOPMed
SOS1	Q07889	p.Pro1086Leu	rs730881028	missense variant	-	NC_000002.12:g.38995212G>A	ExAC,gnomAD
SOS1	Q07889	p.Pro1086Ala	rs1057517892	missense variant	-	NC_000002.12:g.38995213G>C	-
SOS1	Q07889	p.Pro1086Ala	RCV000414591	missense variant	-	NC_000002.12:g.38995213G>C	ClinVar
SOS1	Q07889	p.Pro1086Leu	RCV000159130	missense variant	-	NC_000002.12:g.38995212G>A	ClinVar
SOS1	Q07889	p.Leu1087Ter	RCV000703261	frameshift	Rasopathy	NC_000002.12:g.38995210dup	ClinVar
SOS1	Q07889	p.Pro1089Ser	rs749055121	missense variant	-	NC_000002.12:g.38995204G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1090Leu	RCV000590324	missense variant	-	NC_000002.12:g.38995200G>A	ClinVar
SOS1	Q07889	p.Pro1090Ala	rs1271964438	missense variant	-	NC_000002.12:g.38995201G>C	gnomAD
SOS1	Q07889	p.Pro1090Leu	rs730881034	missense variant	-	NC_000002.12:g.38995200G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1090Thr	rs1271964438	missense variant	-	NC_000002.12:g.38995201G>T	gnomAD
SOS1	Q07889	p.Pro1091Ser	rs756008569	missense variant	-	NC_000002.12:g.38995198G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1091Ala	rs756008569	missense variant	-	NC_000002.12:g.38995198G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1091Thr	rs756008569	missense variant	-	NC_000002.12:g.38995198G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1091Ter	RCV000414163	frameshift	-	NC_000002.12:g.38995201dup	ClinVar
SOS1	Q07889	p.Ala1092Thr	rs373948887	missense variant	-	NC_000002.12:g.38995195C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gly1094Asp	rs1238854663	missense variant	-	NC_000002.12:g.38995188C>T	gnomAD
SOS1	Q07889	p.Ala1095Asp	rs755015356	missense variant	-	NC_000002.12:g.38995185G>T	ExAC,gnomAD
SOS1	Q07889	p.Ser1096Thr	RCV000547835	missense variant	Rasopathy	NC_000002.12:g.38995183A>T	ClinVar
SOS1	Q07889	p.Ser1096Thr	RCV000761177	missense variant	B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21	NC_000002.12:g.38995183A>T	ClinVar
SOS1	Q07889	p.Ser1096Thr	RCV000780744	missense variant	-	NC_000002.12:g.38995183A>T	ClinVar
SOS1	Q07889	p.Ser1096Thr	rs376722127	missense variant	-	NC_000002.12:g.38995183A>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1097Thr	RCV000156973	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38995179C>G	ClinVar
SOS1	Q07889	p.Ser1097Thr	RCV000159180	missense variant	-	NC_000002.12:g.38995179C>G	ClinVar
SOS1	Q07889	p.Ser1097Arg	rs758560516	missense variant	-	NC_000002.12:g.38995178A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1097Asn	rs727505379	missense variant	-	NC_000002.12:g.38995179C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1097Thr	rs727505379	missense variant	-	NC_000002.12:g.38995179C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1097Asn	RCV000413425	missense variant	-	NC_000002.12:g.38995179C>T	ClinVar
SOS1	Q07889	p.Thr1099Ala	rs750731426	missense variant	-	NC_000002.12:g.38995174T>C	ExAC,gnomAD
SOS1	Q07889	p.Asp1100His	COSM461024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38995171C>G	NCI-TCGA Cosmic
SOS1	Q07889	p.Val1101Ile	rs1386657291	missense variant	-	NC_000002.12:g.38995168C>T	gnomAD
SOS1	Q07889	p.Ser1103Gly	rs1210824639	missense variant	-	NC_000002.12:g.38995162T>C	TOPMed
SOS1	Q07889	p.Ser1103Asn	COSM477397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38995161C>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Asp1106Gly	rs1406906239	missense variant	-	NC_000002.12:g.38995152T>C	TOPMed,gnomAD
SOS1	Q07889	p.Ser1107Cys	rs1469499065	missense variant	-	NC_000002.12:g.38995149G>C	TOPMed,gnomAD
SOS1	Q07889	p.Ser1107Ala	rs964159537	missense variant	-	NC_000002.12:g.38995150A>C	TOPMed,gnomAD
SOS1	Q07889	p.Ser1107Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38995149G>A	NCI-TCGA
SOS1	Q07889	p.Ser1107Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38995149G>T	NCI-TCGA
SOS1	Q07889	p.Asp1108Asn	rs199856844	missense variant	-	NC_000002.12:g.38995147C>T	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1108Asn	RCV000825457	missense variant	-	NC_000002.12:g.38995147C>T	ClinVar
SOS1	Q07889	p.Asp1108His	RCV000587413	missense variant	-	NC_000002.12:g.38995147C>G	ClinVar
SOS1	Q07889	p.Asp1108Asn	RCV000333119	missense variant	-	NC_000002.12:g.38995147C>T	ClinVar
SOS1	Q07889	p.Asp1108His	rs199856844	missense variant	-	NC_000002.12:g.38995147C>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1108Asn	RCV000234075	missense variant	Rasopathy	NC_000002.12:g.38995147C>T	ClinVar
SOS1	Q07889	p.His1109Tyr	rs1452455488	missense variant	-	NC_000002.12:g.38995144G>A	gnomAD
SOS1	Q07889	p.Ser1110Leu	rs572955351	missense variant	-	NC_000002.12:g.38995140G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1110Trp	rs572955351	missense variant	-	NC_000002.12:g.38995140G>C	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1110Trp	RCV000159139	missense variant	-	NC_000002.12:g.38995140G>C	ClinVar
SOS1	Q07889	p.Ser1110Leu	RCV000413089	missense variant	-	NC_000002.12:g.38995140G>A	ClinVar
SOS1	Q07889	p.Pro1112Ser	rs999553936	missense variant	-	NC_000002.12:g.38995135G>A	TOPMed,gnomAD
SOS1	Q07889	p.Pro1112Ala	rs999553936	missense variant	-	NC_000002.12:g.38995135G>C	TOPMed,gnomAD
SOS1	Q07889	p.His1114Asp	rs1365639175	missense variant	-	NC_000002.12:g.38995129G>C	TOPMed
SOS1	Q07889	p.Ser1116Gly	rs1281786941	missense variant	-	NC_000002.12:g.38995123T>C	gnomAD
SOS1	Q07889	p.Asn1117Ser	rs754314057	missense variant	-	NC_000002.12:g.38989311T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn1117Ser	RCV000363574	missense variant	-	NC_000002.12:g.38989311T>C	ClinVar
SOS1	Q07889	p.Asp1118Tyr	rs1276062555	missense variant	-	NC_000002.12:g.38989309C>A	TOPMed,gnomAD
SOS1	Q07889	p.Thr1119Ala	rs764640296	missense variant	-	NC_000002.12:g.38989306T>C	ExAC,gnomAD
SOS1	Q07889	p.Val1120Ile	rs368767111	missense variant	-	NC_000002.12:g.38989303C>T	ESP,TOPMed
SOS1	Q07889	p.Ile1122Met	rs765832489	missense variant	-	NC_000002.12:g.38989295G>C	ExAC,gnomAD
SOS1	Q07889	p.Val1124Ile	rs1342428273	missense variant	-	NC_000002.12:g.38989291C>T	gnomAD
SOS1	Q07889	p.Thr1125Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38989287G>T	NCI-TCGA
SOS1	Q07889	p.Pro1127Ser	rs1373636855	missense variant	-	NC_000002.12:g.38989282G>A	TOPMed
SOS1	Q07889	p.His1128Arg	rs1434181930	missense variant	-	NC_000002.12:g.38989278T>C	TOPMed
SOS1	Q07889	p.His1128Tyr	rs762576997	missense variant	-	NC_000002.12:g.38989279G>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1131Gly	rs376917176	missense variant	-	NC_000002.12:g.38989270T>C	ESP,ExAC,gnomAD
SOS1	Q07889	p.Arg1131Lys	rs768113420	missense variant	-	NC_000002.12:g.38987591C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg1131Lys	rs768113420	missense variant	-	NC_000002.12:g.38987591C>T	UniProt,dbSNP
SOS1	Q07889	p.Arg1131Lys	VAR_066057	missense variant	-	NC_000002.12:g.38987591C>T	UniProt
SOS1	Q07889	p.Ala1133Pro	rs1162412781	missense variant	-	NC_000002.12:g.38987586C>G	gnomAD
SOS1	Q07889	p.Ala1133Val	rs757838494	missense variant	-	NC_000002.12:g.38987585G>A	ExAC,gnomAD
SOS1	Q07889	p.Ser1134Phe	rs749989638	missense variant	-	NC_000002.12:g.38987582G>A	ExAC,gnomAD
SOS1	Q07889	p.Val1135Ile	rs1486583060	missense variant	-	NC_000002.12:g.38987580C>T	TOPMed
SOS1	Q07889	p.Ser1136Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.38987576G>T	NCI-TCGA
SOS1	Q07889	p.Ser1137Pro	rs147996068	missense variant	-	NC_000002.12:g.38987574A>G	ESP,gnomAD
SOS1	Q07889	p.Ile1138Lys	rs1433351757	missense variant	-	NC_000002.12:g.38987570A>T	TOPMed
SOS1	Q07889	p.Ile1138Leu	rs56248239	missense variant	-	NC_000002.12:g.38987571T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1138Val	rs56248239	missense variant	-	NC_000002.12:g.38987571T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1138Val	RCV000587119	missense variant	-	NC_000002.12:g.38987571T>C	ClinVar
SOS1	Q07889	p.Ile1138Val	RCV000722119	missense variant	-	NC_000002.12:g.38987571T>C	ClinVar
SOS1	Q07889	p.Ile1138Val	RCV000697593	missense variant	Rasopathy	NC_000002.12:g.38987571T>C	ClinVar
SOS1	Q07889	p.Ser1139Arg	rs1201321342	missense variant	-	NC_000002.12:g.38987566A>C	TOPMed
SOS1	Q07889	p.Leu1140Ile	RCV000592644	missense variant	-	NC_000002.12:g.38987565A>T	ClinVar
SOS1	Q07889	p.Leu1140Ile	rs375550588	missense variant	-	NC_000002.12:g.38987565A>T	UniProt,dbSNP
SOS1	Q07889	p.Leu1140Ile	VAR_066058	missense variant	-	NC_000002.12:g.38987565A>T	UniProt
SOS1	Q07889	p.Leu1140Ile	rs375550588	missense variant	-	NC_000002.12:g.38987565A>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu1140Ile	RCV000463473	missense variant	Rasopathy	NC_000002.12:g.38987565A>T	ClinVar
SOS1	Q07889	p.Leu1140Ile	RCV000577966	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.38987565A>T	ClinVar
SOS1	Q07889	p.Thr1144Ile	rs775259671	missense variant	-	NC_000002.12:g.38987552G>A	ExAC,gnomAD
SOS1	Q07889	p.Thr1144Pro	rs1232927548	missense variant	-	NC_000002.12:g.38987553T>G	gnomAD
SOS1	Q07889	p.Thr1144Ser	rs775259671	missense variant	-	NC_000002.12:g.38987552G>C	ExAC,gnomAD
SOS1	Q07889	p.Asp1145Asn	RCV000156982	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38987550C>T	ClinVar
SOS1	Q07889	p.Asp1145Asn	rs727505383	missense variant	-	NC_000002.12:g.38987550C>T	gnomAD
SOS1	Q07889	p.Val1147Ala	RCV000706044	missense variant	Rasopathy	NC_000002.12:g.38987543A>G	ClinVar
SOS1	Q07889	p.Pro1148Ser	rs138966939	missense variant	-	NC_000002.12:g.38987541G>A	ESP,ExAC,gnomAD
SOS1	Q07889	p.Val1149Ile	rs201539241	missense variant	-	NC_000002.12:g.38987538C>T	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Arg1157Thr	rs774579234	missense variant	-	NC_000002.12:g.38987513C>G	ExAC,gnomAD
SOS1	Q07889	p.Arg1158Ter	rs1396062382	stop gained	-	NC_000002.12:g.38987511G>A	gnomAD
SOS1	Q07889	p.Ala1162Val	rs1022820895	missense variant	-	NC_000002.12:g.38987498G>A	gnomAD
SOS1	Q07889	p.Pro1163Ser	rs1388677294	missense variant	-	NC_000002.12:g.38987496G>A	TOPMed
SOS1	Q07889	p.Pro1163Leu	rs771240089	missense variant	-	NC_000002.12:g.38987495G>A	ExAC
SOS1	Q07889	p.Ala1164Thr	rs749546068	missense variant	-	NC_000002.12:g.38987493C>T	ExAC,gnomAD
SOS1	Q07889	p.Ala1164Val	rs1388995840	missense variant	-	NC_000002.12:g.38987492G>A	gnomAD
SOS1	Q07889	p.Ser1167Leu	rs778109739	missense variant	-	NC_000002.12:g.38987483G>A	ExAC,gnomAD
SOS1	Q07889	p.Pro1168Ala	rs756406841	missense variant	-	NC_000002.12:g.38987481G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1171Asn	rs767291758	missense variant	-	NC_000002.12:g.38986314A>T	ExAC,gnomAD
SOS1	Q07889	p.Met1172Thr	rs537874171	missense variant	-	NC_000002.12:g.38986311A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1173Pro	COSM4839675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38986309A>G	NCI-TCGA Cosmic
SOS1	Q07889	p.Lys1174Gln	rs774526240	missense variant	-	NC_000002.12:g.38986306T>G	ExAC,gnomAD
SOS1	Q07889	p.His1175Pro	rs730881035	missense variant	-	NC_000002.12:g.38986302T>G	TOPMed,gnomAD
SOS1	Q07889	p.His1175Pro	RCV000589150	missense variant	-	NC_000002.12:g.38986302T>G	ClinVar
SOS1	Q07889	p.Leu1176Met	rs771115389	missense variant	-	NC_000002.12:g.38986300A>T	ExAC
SOS1	Q07889	p.Asp1177Glu	RCV000159181	missense variant	-	NC_000002.12:g.38986295G>T	ClinVar
SOS1	Q07889	p.Asp1177Glu	rs730881049	missense variant	-	NC_000002.12:g.38986295G>T	ExAC,gnomAD
SOS1	Q07889	p.Ser1178Thr	rs1050237569	missense variant	-	NC_000002.12:g.38986293C>G	TOPMed
SOS1	Q07889	p.Ser1178Gly	rs773306505	missense variant	-	NC_000002.12:g.38986294T>C	ExAC,gnomAD
SOS1	Q07889	p.Ser1178Gly	RCV000519026	missense variant	-	NC_000002.12:g.38986294T>C	ClinVar
SOS1	Q07889	p.Ser1178Arg	rs773306505	missense variant	-	NC_000002.12:g.38986294T>G	ExAC,gnomAD
SOS1	Q07889	p.Pro1179Ser	rs770107427	missense variant	-	NC_000002.12:g.38986291G>A	ExAC
SOS1	Q07889	p.Ala1181Val	rs1392534339	missense variant	-	NC_000002.12:g.38986284G>A	TOPMed
SOS1	Q07889	p.Ala1181GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38986286_38986287insTACCGTACATGTGCGCAATCCTTCA	NCI-TCGA
SOS1	Q07889	p.Pro1183Arg	COSM72762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38986278G>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Pro1184His	COSM76551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38986275G>T	NCI-TCGA Cosmic
SOS1	Q07889	p.Arg1185Lys	rs1349777222	missense variant	-	NC_000002.12:g.38986272C>T	gnomAD
SOS1	Q07889	p.Lys1190Glu	rs1553349579	missense variant	-	NC_000002.12:g.38986258T>C	-
SOS1	Q07889	p.Lys1190Glu	RCV000597747	missense variant	-	NC_000002.12:g.38986258T>C	ClinVar
SOS1	Q07889	p.Pro1194Ser	rs781621330	missense variant	-	NC_000002.12:g.38986246G>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1195Leu	rs368708238	missense variant	-	NC_000002.12:g.38986242C>A	ESP,ExAC,gnomAD
SOS1	Q07889	p.Arg1195Ter	rs914957553	stop gained	-	NC_000002.12:g.38986243G>A	gnomAD
SOS1	Q07889	p.Ser1197Leu	COSM3910320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38986236G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Ile1198Val	rs747534810	missense variant	-	NC_000002.12:g.38986234T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1199Pro	rs112353205	missense variant	-	NC_000002.12:g.38986231A>G	ExAC,gnomAD
SOS1	Q07889	p.Asp1200Glu	RCV000038553	missense variant	-	NC_000002.12:g.38986226G>T	ClinVar
SOS1	Q07889	p.Asp1200Ala	rs753412784	missense variant	-	NC_000002.12:g.38986227T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1200Asn	rs756728233	missense variant	-	NC_000002.12:g.38986228C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1200Glu	rs141594736	missense variant	-	NC_000002.12:g.38986226G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1200Glu	rs141594736	missense variant	-	NC_000002.12:g.38986226G>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1200Glu	RCV000459983	missense variant	Rasopathy	NC_000002.12:g.38986226G>C	ClinVar
SOS1	Q07889	p.Arg1201Trp	rs752395541	missense variant	-	NC_000002.12:g.38986225G>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1201Gln	rs1422169849	missense variant	-	NC_000002.12:g.38986224C>T	TOPMed
SOS1	Q07889	p.Ser1203Cys	rs145705430	missense variant	-	NC_000002.12:g.38986218G>C	ESP,ExAC,TOPMed
SOS1	Q07889	p.Ser1203Ala	rs558665788	missense variant	-	NC_000002.12:g.38986219A>C	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1203Thr	rs558665788	missense variant	-	NC_000002.12:g.38986219A>T	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1204Val	rs374497013	missense variant	-	NC_000002.12:g.38986216T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1205Leu	rs1257208031	missense variant	-	NC_000002.12:g.38986212G>A	gnomAD
SOS1	Q07889	p.Ser1205Ter	rs1257208031	stop gained	-	NC_000002.12:g.38986212G>C	gnomAD
SOS1	Q07889	p.Asp1206Glu	rs766488137	missense variant	-	NC_000002.12:g.38986208G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro1207Arg	RCV000159117	missense variant	-	NC_000002.12:g.38986206G>C	ClinVar
SOS1	Q07889	p.Pro1207Arg	rs730881025	missense variant	-	NC_000002.12:g.38986206G>C	-
SOS1	Q07889	p.Pro1208Ser	rs1486557873	missense variant	-	NC_000002.12:g.38986204G>A	gnomAD
SOS1	Q07889	p.Pro1215Leu	rs730881050	missense variant	-	NC_000002.12:g.38986182G>A	TOPMed
SOS1	Q07889	p.Pro1216Ala	rs762129481	missense variant	-	NC_000002.12:g.38986180G>C	ExAC,gnomAD
SOS1	Q07889	p.Arg1217Ter	rs914233131	stop gained	-	NC_000002.12:g.38986177G>A	TOPMed
SOS1	Q07889	p.Arg1217Ter	RCV000489742	nonsense	-	NC_000002.12:g.38986177G>A	ClinVar
SOS1	Q07889	p.Val1220Met	rs776814547	missense variant	-	NC_000002.12:g.38986168C>T	ExAC,gnomAD
SOS1	Q07889	p.Val1220Leu	RCV000586270	missense variant	-	NC_000002.12:g.38986168C>A	ClinVar
SOS1	Q07889	p.Val1220Leu	rs776814547	missense variant	-	NC_000002.12:g.38986168C>A	ExAC,gnomAD
SOS1	Q07889	p.Val1220Met	RCV000520194	missense variant	Rasopathy	NC_000002.12:g.38986168C>T	ClinVar
SOS1	Q07889	p.Arg1221Thr	rs768987761	missense variant	-	NC_000002.12:g.38986164C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1223Ser	rs1353982573	missense variant	-	NC_000002.12:g.38986159G>A	gnomAD
SOS1	Q07889	p.Asp1224Gly	rs747415691	missense variant	-	NC_000002.12:g.38986155T>C	ExAC,gnomAD
SOS1	Q07889	p.Phe1226Val	rs1225571110	missense variant	-	NC_000002.12:g.38986150A>C	gnomAD
SOS1	Q07889	p.Ser1227Ter	rs1399192088	stop gained	-	NC_000002.12:g.38986146G>C	gnomAD
SOS1	Q07889	p.Pro1230Ser	rs780536002	missense variant	-	NC_000002.12:g.38986138G>A	ExAC,gnomAD
SOS1	Q07889	p.Leu1231Val	COSM76550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38986135G>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Leu1233Ile	rs777373438	missense variant	-	NC_000002.12:g.38986129G>T	ExAC,gnomAD
SOS1	Q07889	p.Leu1233Phe	rs777373438	missense variant	-	NC_000002.12:g.38986129G>A	ExAC,gnomAD
SOS1	Q07889	p.Leu1233Val	rs777373438	missense variant	-	NC_000002.12:g.38986129G>C	ExAC,gnomAD
SOS1	Q07889	p.Leu1233Ile	RCV000371601	missense variant	-	NC_000002.12:g.38986129G>T	ClinVar
SOS1	Q07889	p.Gln1234Arg	rs1474325673	missense variant	-	NC_000002.12:g.38986125T>C	gnomAD
SOS1	Q07889	p.Pro1235Ser	RCV000157509	missense variant	Primary familial hypertrophic cardiomyopathy (HCM)	NC_000002.12:g.38986123G>A	ClinVar
SOS1	Q07889	p.Pro1235Ser	rs397517168	missense variant	-	NC_000002.12:g.38986123G>A	TOPMed,gnomAD
SOS1	Q07889	p.Pro1236Thr	RCV000680364	missense variant	-	NC_000002.12:g.38986120G>T	ClinVar
SOS1	Q07889	p.Pro1236Leu	rs533661246	missense variant	-	NC_000002.12:g.38986119G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1236Thr	rs727504636	missense variant	-	NC_000002.12:g.38986120G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1236Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38986120G>A	NCI-TCGA
SOS1	Q07889	p.Pro1237Ala	RCV000379826	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38986117G>C	ClinVar
SOS1	Q07889	p.Pro1237Ala	RCV000525329	missense variant	Rasopathy	NC_000002.12:g.38986117G>C	ClinVar
SOS1	Q07889	p.Pro1237Ala	RCV000345549	missense variant	-	NC_000002.12:g.38986117G>C	ClinVar
SOS1	Q07889	p.Pro1237Ala	RCV000764404	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.38986117G>C	ClinVar
SOS1	Q07889	p.Pro1237Thr	rs371408734	missense variant	-	NC_000002.12:g.38986117G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1237Thr	RCV000038555	missense variant	-	NC_000002.12:g.38986117G>T	ClinVar
SOS1	Q07889	p.Pro1237Ser	rs371408734	missense variant	-	NC_000002.12:g.38986117G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1237Ala	rs371408734	missense variant	-	NC_000002.12:g.38986117G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu1238Ser	rs766366434	missense variant	-	NC_000002.12:g.38986113A>G	ExAC,gnomAD
SOS1	Q07889	p.Lys1241Glu	rs367693130	missense variant	-	NC_000002.12:g.38986105T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Lys1241Glu	RCV000680313	missense variant	-	NC_000002.12:g.38986105T>C	ClinVar
SOS1	Q07889	p.Lys1241Glu	RCV000540046	missense variant	Rasopathy	NC_000002.12:g.38986105T>C	ClinVar
SOS1	Q07889	p.Lys1241Arg	rs750433247	missense variant	-	NC_000002.12:g.38986104T>C	ExAC,gnomAD
SOS1	Q07889	p.Lys1241Glu	RCV000038556	missense variant	-	NC_000002.12:g.38986105T>C	ClinVar
SOS1	Q07889	p.Ser1242Gly	RCV000587660	missense variant	-	NC_000002.12:g.38986102T>C	ClinVar
SOS1	Q07889	p.Ser1242Thr	rs1229459993	missense variant	-	NC_000002.12:g.38986101C>G	gnomAD
SOS1	Q07889	p.Ser1242Gly	rs1293079271	missense variant	-	NC_000002.12:g.38986102T>C	gnomAD
SOS1	Q07889	p.Ser1242Ter	RCV000778617	frameshift	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.38986108dup	ClinVar
SOS1	Q07889	p.Ser1242ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38986102T>-	NCI-TCGA
SOS1	Q07889	p.Asp1243Glu	RCV000159118	missense variant	-	NC_000002.12:g.38986097G>C	ClinVar
SOS1	Q07889	p.Asp1243Glu	rs730881026	missense variant	-	NC_000002.12:g.38986097G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1243Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38986098T>C	NCI-TCGA
SOS1	Q07889	p.His1244Asp	rs1305553673	missense variant	-	NC_000002.12:g.38986096G>C	gnomAD
SOS1	Q07889	p.His1244Leu	rs761850358	missense variant	-	NC_000002.12:g.38986095T>A	ExAC,gnomAD
SOS1	Q07889	p.His1244Arg	rs761850358	missense variant	-	NC_000002.12:g.38986095T>C	ExAC,gnomAD
SOS1	Q07889	p.Gly1245Val	RCV000038557	missense variant	-	NC_000002.12:g.38986092C>A	ClinVar
SOS1	Q07889	p.Gly1245Val	rs397517169	missense variant	-	NC_000002.12:g.38986092C>A	TOPMed
SOS1	Q07889	p.Asn1246Ser	rs374110460	missense variant	-	NC_000002.12:g.38986089T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala1247Gly	rs768934399	missense variant	-	NC_000002.12:g.38986086G>C	ExAC,gnomAD
SOS1	Q07889	p.Phe1248Leu	rs1186966970	missense variant	-	NC_000002.12:g.38986084A>G	TOPMed
SOS1	Q07889	p.Phe1249Leu	rs775837423	missense variant	-	NC_000002.12:g.38986079G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1250Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38986078G>T	NCI-TCGA
SOS1	Q07889	p.Asn1251Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38986074T>C	NCI-TCGA
SOS1	Q07889	p.Ser1252Thr	rs1160171016	missense variant	-	NC_000002.12:g.38986071C>G	gnomAD
SOS1	Q07889	p.Pro1253Leu	rs772527384	missense variant	-	NC_000002.12:g.38986068G>A	ExAC,gnomAD
SOS1	Q07889	p.Ser1254Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38986066A>G	NCI-TCGA
SOS1	Q07889	p.Pro1255Thr	rs972166211	missense variant	-	NC_000002.12:g.38986063G>T	TOPMed
SOS1	Q07889	p.Pro1255Arg	rs1376446157	missense variant	-	NC_000002.12:g.38986062G>C	TOPMed
SOS1	Q07889	p.Pro1255Thr	RCV000475839	missense variant	Rasopathy	NC_000002.12:g.38986063G>T	ClinVar
SOS1	Q07889	p.Pro1255Thr	RCV000593291	missense variant	-	NC_000002.12:g.38986063G>T	ClinVar
SOS1	Q07889	p.Thr1257Ile	rs962478091	missense variant	-	NC_000002.12:g.38986056G>A	TOPMed
SOS1	Q07889	p.Thr1257Ala	rs553805862	missense variant	-	NC_000002.12:g.38986057T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr1257Ala	rs553805862	missense variant	-	NC_000002.12:g.38986057T>C	UniProt,dbSNP
SOS1	Q07889	p.Thr1257Ala	VAR_066059	missense variant	-	NC_000002.12:g.38986057T>C	UniProt
SOS1	Q07889	p.Thr1257Ala	RCV000176407	missense variant	-	NC_000002.12:g.38986057T>C	ClinVar
SOS1	Q07889	p.Pro1258Thr	rs956446097	missense variant	-	NC_000002.12:g.38986054G>T	gnomAD
SOS1	Q07889	p.Pro1258Arg	rs140991871	missense variant	-	NC_000002.12:g.38986053G>C	ESP,TOPMed,gnomAD
SOS1	Q07889	p.Pro1260Ala	RCV000550544	missense variant	Rasopathy	NC_000002.12:g.38986048G>C	ClinVar
SOS1	Q07889	p.Pro1260Ala	rs779336305	missense variant	-	NC_000002.12:g.38986048G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro1260Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38986047G>C	NCI-TCGA
SOS1	Q07889	p.Pro1260Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38986048G>A	NCI-TCGA
SOS1	Q07889	p.Pro1261Leu	rs1253089461	missense variant	-	NC_000002.12:g.38986044G>A	gnomAD
SOS1	Q07889	p.Pro1264His	rs1194895614	missense variant	-	NC_000002.12:g.38986035G>T	gnomAD
SOS1	Q07889	p.Ser1265Ala	rs886056023	missense variant	-	NC_000002.12:g.38986033A>C	-
SOS1	Q07889	p.Ser1265Ala	RCV000288278	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38986033A>C	ClinVar
SOS1	Q07889	p.Ser1265Ala	RCV000384964	missense variant	-	NC_000002.12:g.38986033A>C	ClinVar
SOS1	Q07889	p.Pro1266Leu	COSM3581516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38986029G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Gly1268Ser	rs730881051	missense variant	-	NC_000002.12:g.38986024C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gly1268Ser	RCV000794937	missense variant	Rasopathy	NC_000002.12:g.38986024C>T	ClinVar
SOS1	Q07889	p.Gly1268Cys	rs730881051	missense variant	-	NC_000002.12:g.38986024C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr1269Arg	rs370528448	missense variant	-	NC_000002.12:g.38986020G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg1271Gly	rs1310200958	missense variant	-	NC_000002.12:g.38986015T>C	TOPMed
SOS1	Q07889	p.Arg1271Thr	rs1267319635	missense variant	-	NC_000002.12:g.38986014C>G	gnomAD
SOS1	Q07889	p.His1272Arg	rs1372284070	missense variant	-	NC_000002.12:g.38986011T>C	gnomAD
SOS1	Q07889	p.Leu1273Val	rs377102744	missense variant	-	NC_000002.12:g.38986009G>C	ESP,ExAC,gnomAD
SOS1	Q07889	p.Leu1273Arg	rs1438882639	missense variant	-	NC_000002.12:g.38986008A>C	gnomAD
SOS1	Q07889	p.Leu1273CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38986009G>-	NCI-TCGA
SOS1	Q07889	p.Pro1274Arg	rs886041565	missense variant	-	NC_000002.12:g.38986005G>C	gnomAD
SOS1	Q07889	p.Pro1274Arg	RCV000303886	missense variant	-	NC_000002.12:g.38986005G>C	ClinVar
SOS1	Q07889	p.Pro1276Ser	RCV000478308	missense variant	-	NC_000002.12:g.38986000G>A	ClinVar
SOS1	Q07889	p.Pro1276Ser	rs1064796575	missense variant	-	NC_000002.12:g.38986000G>A	-
SOS1	Q07889	p.Leu1278Ter	rs1274431996	stop gained	-	NC_000002.12:g.38985993A>T	TOPMed,gnomAD
SOS1	Q07889	p.Thr1279Ile	rs758258471	missense variant	-	NC_000002.12:g.38985990G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gln1280Lys	rs548519280	missense variant	-	NC_000002.12:g.38985988G>T	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1283Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38985979C>T	NCI-TCGA
SOS1	Q07889	p.His1285Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38985971A>C	NCI-TCGA
SOS1	Q07889	p.Ser1286Phe	RCV000781875	missense variant	-	NC_000002.12:g.38985969G>A	ClinVar
SOS1	Q07889	p.Ser1286Cys	rs374341202	missense variant	-	NC_000002.12:g.38985969G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1286Phe	rs374341202	missense variant	-	NC_000002.12:g.38985969G>A	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1286Cys	RCV000589019	missense variant	-	NC_000002.12:g.38985969G>C	ClinVar
SOS1	Q07889	p.Ile1287Thr	rs775782359	missense variant	-	NC_000002.12:g.38985966A>G	ExAC,gnomAD
SOS1	Q07889	p.Ile1287Val	rs760917490	missense variant	-	NC_000002.12:g.38985967T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile1287Val	RCV000616572	missense variant	-	NC_000002.12:g.38985967T>C	ClinVar
SOS1	Q07889	p.Gly1289Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38985960C>A	NCI-TCGA
SOS1	Q07889	p.Pro1290Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38985958G>T	NCI-TCGA
SOS1	Q07889	p.Pro1290Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38985958G>A	NCI-TCGA
SOS1	Q07889	p.Val1292Phe	COSM4094170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38985952C>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Pro1294Ala	COSM419170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.38985946G>C	NCI-TCGA Cosmic
SOS1	Q07889	p.Arg1295Ter	COSM4094169	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.38985943G>A	NCI-TCGA Cosmic
SOS1	Q07889	p.Ser1297ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38985935_38985936insAT	NCI-TCGA
SOS1	Q07889	p.Ser1297Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38985937T>A	NCI-TCGA
SOS1	Q07889	p.Thr1298Pro	rs139676674	missense variant	-	NC_000002.12:g.38985934T>G	ESP,TOPMed,gnomAD
SOS1	Q07889	p.Thr1298Ala	rs139676674	missense variant	-	NC_000002.12:g.38985934T>C	ESP,TOPMed,gnomAD
SOS1	Q07889	p.SerGln1299Ter	rs730881055	stop gained	-	NC_000002.12:g.38985928_38985930del	-
SOS1	Q07889	p.Ser1299Ter	RCV000159189	nonsense	-	NC_000002.12:g.38985928_38985930del	ClinVar
SOS1	Q07889	p.His1301Arg	rs771396497	missense variant	-	NC_000002.12:g.38985924T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1302Thr	rs750296853	missense variant	-	NC_000002.12:g.38985921A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1302Thr	RCV000465195	missense variant	Rasopathy	NC_000002.12:g.38985921A>G	ClinVar
SOS1	Q07889	p.Ile1302Thr	RCV000414348	missense variant	-	NC_000002.12:g.38985921A>G	ClinVar
SOS1	Q07889	p.Lys1304Gln	rs776281207	missense variant	-	NC_000002.12:g.38985916T>G	ExAC
SOS1	Q07889	p.Leu1305Val	rs1347275717	missense variant	-	NC_000002.12:g.38985913G>C	gnomAD
SOS1	Q07889	p.Arg1312Thr	rs768386760	missense variant	-	NC_000002.12:g.38985891C>G	ExAC
SOS1	Q07889	p.Thr1315Arg	rs779904535	missense variant	-	NC_000002.12:g.38985882G>C	ExAC,gnomAD
SOS1	Q07889	p.His1316Asp	RCV000159185	missense variant	-	NC_000002.12:g.38985880G>C	ClinVar
SOS1	Q07889	p.His1316Asp	RCV000461078	missense variant	Rasopathy	NC_000002.12:g.38985880G>C	ClinVar
SOS1	Q07889	p.His1316Gln	rs1399242305	missense variant	-	NC_000002.12:g.38985878G>C	TOPMed,gnomAD
SOS1	Q07889	p.His1316Tyr	rs371024396	missense variant	-	NC_000002.12:g.38985880G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.His1316Asp	rs371024396	missense variant	-	NC_000002.12:g.38985880G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.His1316ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.38985878_38985879GT>-	NCI-TCGA
SOS1	Q07889	p.Ser1318Cys	rs1375806273	missense variant	-	NC_000002.12:g.38985873G>C	gnomAD
SOS1	Q07889	p.Ser1318Thr	RCV000038559	missense variant	-	NC_000002.12:g.38985874A>T	ClinVar
SOS1	Q07889	p.Ser1318Thr	rs397517171	missense variant	-	NC_000002.12:g.38985874A>T	-
SOS1	Q07889	p.Met1319Thr	rs730881036	missense variant	-	NC_000002.12:g.38985870A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met1319Arg	rs730881036	missense variant	-	NC_000002.12:g.38985870A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met1319Arg	RCV000159146	missense variant	-	NC_000002.12:g.38985870A>C	ClinVar
SOS1	Q07889	p.His1320Gln	rs1553349464	missense variant	-	NC_000002.12:g.38985866G>C	-
SOS1	Q07889	p.His1320Pro	rs1404062370	missense variant	-	NC_000002.12:g.38985867T>G	TOPMed
SOS1	Q07889	p.His1320Gln	RCV000521073	missense variant	-	NC_000002.12:g.38985866G>C	ClinVar
SOS1	Q07889	p.His1320Arg	VAR_030443	Missense	-	-	UniProt
SOS1	Q07889	p.Arg1321Ter	rs753874333	stop gained	-	NC_000002.12:g.38985865T>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1321Thr	rs1054147959	missense variant	-	NC_000002.12:g.38985864C>G	TOPMed
SOS1	Q07889	p.Asp1322Asn	rs1167931335	missense variant	-	NC_000002.12:g.38985862C>T	gnomAD
SOS1	Q07889	p.Pro1324Arg	RCV000151916	missense variant	-	NC_000002.12:g.38985855G>C	ClinVar
SOS1	Q07889	p.Pro1324Arg	rs727503434	missense variant	-	NC_000002.12:g.38985855G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro1324Leu	rs727503434	missense variant	-	NC_000002.12:g.38985855G>A	ExAC,gnomAD
SOS1	Q07889	p.Leu1326Val	rs1325516428	missense variant	-	NC_000002.12:g.38985850G>C	TOPMed
SOS1	Q07889	p.Leu1326Arg	rs1371048349	missense variant	-	NC_000002.12:g.38985849A>C	gnomAD
SOS1	Q07889	p.Leu1327Trp	rs1191984233	missense variant	-	NC_000002.12:g.38985846A>C	gnomAD
SOS1	Q07889	p.Asn1329Asp	rs756233638	missense variant	-	NC_000002.12:g.38985841T>C	ExAC,gnomAD
SOS1	Q07889	p.Ala1330Pro	rs1259991779	missense variant	-	NC_000002.12:g.38985838C>G	gnomAD
SOS1	Q07889	p.Ala1330Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.38985837G>A	NCI-TCGA
SOS1	Q07889	p.Gln2Leu	rs886056026	missense variant	-	NC_000002.12:g.39120418T>A	-
SOS1	Q07889	p.Gln2Leu	RCV000330632	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39120418T>A	ClinVar
SOS1	Q07889	p.Gln2Leu	RCV000389511	missense variant	-	NC_000002.12:g.39120418T>A	ClinVar
SOS1	Q07889	p.Gln2Glu	rs587781174	missense variant	-	NC_000002.12:g.39120419G>C	ExAC,gnomAD
SOS1	Q07889	p.Gln2Ter	rs587781174	stop gained	-	NC_000002.12:g.39120419G>A	ExAC,gnomAD
SOS1	Q07889	p.Ala3Val	rs745455374	missense variant	-	NC_000002.12:g.39120415G>A	ExAC,gnomAD
SOS1	Q07889	p.Ala3Ser	rs533757634	missense variant	-	NC_000002.12:g.39120416C>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gln4Arg	rs770627276	missense variant	-	NC_000002.12:g.39120412T>C	ExAC,gnomAD
SOS1	Q07889	p.Leu6Pro	rs749077460	missense variant	-	NC_000002.12:g.39120406A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro7Leu	rs755983212	missense variant	-	NC_000002.12:g.39120403G>A	ExAC,gnomAD
SOS1	Q07889	p.Tyr8Cys	rs781093356	missense variant	-	NC_000002.12:g.39120400T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Tyr8Phe	rs781093356	missense variant	-	NC_000002.12:g.39120400T>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu9Lys	rs1347187972	missense variant	-	NC_000002.12:g.39120398C>T	TOPMed
SOS1	Q07889	p.Glu9Gln	rs1347187972	missense variant	-	NC_000002.12:g.39120398C>G	TOPMed
SOS1	Q07889	p.Glu9Asp	rs765768180	missense variant	-	NC_000002.12:g.39120396C>G	gnomAD
SOS1	Q07889	p.Glu9Lys	RCV000680743	missense variant	-	NC_000002.12:g.39120398C>T	ClinVar
SOS1	Q07889	p.Ser12Arg	rs1454378065	missense variant	-	NC_000002.12:g.39120387G>T	gnomAD
SOS1	Q07889	p.Ser12Gly	rs751776207	missense variant	-	NC_000002.12:g.39120389T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser12Cys	rs751776207	missense variant	-	NC_000002.12:g.39120389T>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu13Gln	rs766698773	missense variant	-	NC_000002.12:g.39120386C>G	ExAC,gnomAD
SOS1	Q07889	p.Glu14Gly	rs750790046	missense variant	-	NC_000002.12:g.39120382T>C	ExAC,gnomAD
SOS1	Q07889	p.Lys18Met	rs777196517	missense variant	-	NC_000002.12:g.39120370T>A	ExAC,gnomAD
SOS1	Q07889	p.Lys18Arg	rs777196517	missense variant	-	NC_000002.12:g.39120370T>C	ExAC,gnomAD
SOS1	Q07889	p.Gly21Arg	rs771423136	missense variant	-	NC_000002.12:g.39120362C>G	ExAC,gnomAD
SOS1	Q07889	p.Leu22Val	rs773916713	missense variant	-	NC_000002.12:g.39120359G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro25Ser	rs139592595	missense variant	-	NC_000002.12:g.39120350G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro25Ser	RCV000521504	missense variant	Rasopathy	NC_000002.12:g.39120350G>A	ClinVar
SOS1	Q07889	p.Ala26Ser	rs1303622703	missense variant	-	NC_000002.12:g.39120347C>A	gnomAD
SOS1	Q07889	p.Lys28Arg	RCV000413861	missense variant	-	NC_000002.12:g.39120340T>C	ClinVar
SOS1	Q07889	p.Lys28Arg	rs1057517867	missense variant	-	NC_000002.12:g.39120340T>C	-
SOS1	Q07889	p.Gly32Arg	rs764501046	missense variant	-	NC_000002.12:g.39067747C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.His35Arg	RCV000384120	missense variant	-	NC_000002.12:g.39067737T>C	ClinVar
SOS1	Q07889	p.His35Arg	rs886041928	missense variant	-	NC_000002.12:g.39067737T>C	-
SOS1	Q07889	p.Thr37Ala	RCV000159147	missense variant	Rasopathy	NC_000002.12:g.39067732T>C	ClinVar
SOS1	Q07889	p.Thr37Ala	rs150565592	missense variant	-	NC_000002.12:g.39067732T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr37Ala	rs150565592	missense variant	-	NC_000002.12:g.39067732T>C	UniProt,dbSNP
SOS1	Q07889	p.Thr37Ala	VAR_066031	missense variant	-	NC_000002.12:g.39067732T>C	UniProt
SOS1	Q07889	p.Thr37Ile	rs1295255931	missense variant	-	NC_000002.12:g.39067731G>A	gnomAD
SOS1	Q07889	p.Leu38Phe	rs1242664084	missense variant	-	NC_000002.12:g.39067729G>A	gnomAD
SOS1	Q07889	p.Glu39Val	rs1391761076	missense variant	-	NC_000002.12:g.39067725T>A	gnomAD
SOS1	Q07889	p.Glu39Lys	rs375934353	missense variant	-	NC_000002.12:g.39067726C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp42Val	rs1329027771	missense variant	-	NC_000002.12:g.39067716T>A	gnomAD
SOS1	Q07889	p.Asp42Asn	rs1402273679	missense variant	-	NC_000002.12:g.39067717C>T	gnomAD
SOS1	Q07889	p.Asp43His	rs730881052	missense variant	-	NC_000002.12:g.39067714C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp43His	RCV000159184	missense variant	-	NC_000002.12:g.39067714C>G	ClinVar
SOS1	Q07889	p.Gln46Arg	rs1190714377	missense variant	-	NC_000002.12:g.39067704T>C	TOPMed,gnomAD
SOS1	Q07889	p.Tyr47His	rs1418446263	missense variant	-	NC_000002.12:g.39067702A>G	gnomAD
SOS1	Q07889	p.Val48Ile	rs764909346	missense variant	-	NC_000002.12:g.39067699C>T	ExAC,gnomAD
SOS1	Q07889	p.Val48Ala	rs373898570	missense variant	-	NC_000002.12:g.39067698A>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu51Ser	rs1458813036	missense variant	-	NC_000002.12:g.39067689A>G	gnomAD
SOS1	Q07889	p.Gln54His	rs763520126	missense variant	-	NC_000002.12:g.39067679T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn57Tyr	rs765764610	missense variant	-	NC_000002.12:g.39067672T>A	TOPMed,gnomAD
SOS1	Q07889	p.Met58Thr	rs746906388	missense variant	-	NC_000002.12:g.39067668A>G	ExAC,gnomAD
SOS1	Q07889	p.Leu59Ile	rs1442738935	missense variant	-	NC_000002.12:g.39067666G>T	TOPMed
SOS1	Q07889	p.Gln61His	rs1355644577	missense variant	-	NC_000002.12:g.39067658T>G	gnomAD
SOS1	Q07889	p.Gln63Leu	rs557722218	missense variant	-	NC_000002.12:g.39067653T>A	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Arg65Ter	rs1303674298	stop gained	-	NC_000002.12:g.39067648G>A	TOPMed
SOS1	Q07889	p.Ala67Thr	RCV000159186	missense variant	-	NC_000002.12:g.39067642C>T	ClinVar
SOS1	Q07889	p.Ala67Thr	rs730881053	missense variant	-	NC_000002.12:g.39067642C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala67Val	rs1445719629	missense variant	-	NC_000002.12:g.39067641G>A	gnomAD
SOS1	Q07889	p.Asp69His	rs771172095	missense variant	-	NC_000002.12:g.39067636C>G	ExAC,gnomAD
SOS1	Q07889	p.Arg73Cys	rs772133124	missense variant	-	NC_000002.12:g.39058801G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val74Ile	RCV000681438	missense variant	-	NC_000002.12:g.39058798C>T	ClinVar
SOS1	Q07889	p.Val74Leu	rs1292587800	missense variant	-	NC_000002.12:g.39058798C>G	gnomAD
SOS1	Q07889	p.Gln75Leu	rs786205522	missense variant	-	NC_000002.12:g.39058794T>A	-
SOS1	Q07889	p.Gln75Leu	RCV000171289	missense variant	-	NC_000002.12:g.39058794T>A	ClinVar
SOS1	Q07889	p.Phe78Cys	RCV000460292	missense variant	Rasopathy	NC_000002.12:g.39058785A>C	ClinVar
SOS1	Q07889	p.Phe78Cys	rs201352584	missense variant	-	NC_000002.12:g.39058785A>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Phe78Cys	RCV000514749	missense variant	-	NC_000002.12:g.39058785A>C	ClinVar
SOS1	Q07889	p.Phe78Cys	RCV000852537	missense variant	Ventricular tachycardia	NC_000002.12:g.39058785A>C	ClinVar
SOS1	Q07889	p.Pro79Arg	rs1217237678	missense variant	-	NC_000002.12:g.39058782G>C	TOPMed,gnomAD
SOS1	Q07889	p.Pro81Ser	rs1170908990	missense variant	-	NC_000002.12:g.39058777G>A	TOPMed
SOS1	Q07889	p.Ile82Val	rs397517157	missense variant	-	NC_000002.12:g.39058774T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile82Thr	rs1278714177	missense variant	-	NC_000002.12:g.39058773A>G	gnomAD
SOS1	Q07889	p.Ile82Val	RCV000038533	missense variant	-	NC_000002.12:g.39058774T>C	ClinVar
SOS1	Q07889	p.Ile82Val	RCV000680318	missense variant	-	NC_000002.12:g.39058774T>C	ClinVar
SOS1	Q07889	p.Ile82Val	RCV000541335	missense variant	Rasopathy	NC_000002.12:g.39058774T>C	ClinVar
SOS1	Q07889	p.Asp83Ala	rs749485750	missense variant	-	NC_000002.12:g.39058770T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp83Asn	rs1401325594	missense variant	-	NC_000002.12:g.39058771C>T	gnomAD
SOS1	Q07889	p.Asp83Gly	rs749485750	missense variant	-	NC_000002.12:g.39058770T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Lys84Glu	rs1319777416	missense variant	-	NC_000002.12:g.39058768T>C	TOPMed
SOS1	Q07889	p.Trp85Arg	rs730881054	missense variant	-	NC_000002.12:g.39058765A>T	gnomAD
SOS1	Q07889	p.Trp85Arg	rs730881054	missense variant	-	NC_000002.12:g.39058765A>G	gnomAD
SOS1	Q07889	p.Trp85Gly	rs730881054	missense variant	-	NC_000002.12:g.39058765A>C	gnomAD
SOS1	Q07889	p.Trp85Arg	RCV000159187	missense variant	-	NC_000002.12:g.39058765A>T	ClinVar
SOS1	Q07889	p.Trp85Arg	RCV000545153	missense variant	Rasopathy	NC_000002.12:g.39058765A>G	ClinVar
SOS1	Q07889	p.Ile94Val	RCV000523770	missense variant	Rasopathy	NC_000002.12:g.39058738T>C	ClinVar
SOS1	Q07889	p.Ile94Thr	rs397517161	missense variant	-	NC_000002.12:g.39058737A>G	gnomAD
SOS1	Q07889	p.Ile94Thr	RCV000038539	missense variant	-	NC_000002.12:g.39058737A>G	ClinVar
SOS1	Q07889	p.Ile94Val	rs144757941	missense variant	-	NC_000002.12:g.39058738T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu95Lys	RCV000702580	missense variant	Rasopathy	NC_000002.12:g.39058735C>T	ClinVar
SOS1	Q07889	p.Lys98Arg	rs770048860	missense variant	-	NC_000002.12:g.39058725T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn101Ser	rs781600559	missense variant	-	NC_000002.12:g.39058716T>C	ExAC
SOS1	Q07889	p.Pro102Arg	rs1553362937	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058713G>C	UniProt,dbSNP
SOS1	Q07889	p.Pro102Arg	VAR_066032	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058713G>C	UniProt
SOS1	Q07889	p.Pro102Arg	rs1553362937	missense variant	-	NC_000002.12:g.39058713G>C	-
SOS1	Q07889	p.Pro102Arg	RCV000544063	missense variant	Rasopathy	NC_000002.12:g.39058713G>C	ClinVar
SOS1	Q07889	p.Leu103Ser	rs1188721742	missense variant	-	NC_000002.12:g.39058710A>G	gnomAD
SOS1	Q07889	p.Ser104Cys	rs752017140	missense variant	-	NC_000002.12:g.39058707G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser104Phe	rs752017140	missense variant	-	NC_000002.12:g.39058707G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu105Ile	rs1230538285	missense variant	-	NC_000002.12:g.39058705G>T	TOPMed
SOS1	Q07889	p.Val107Leu	rs1235907251	missense variant	-	NC_000002.12:g.39058699C>A	gnomAD
SOS1	Q07889	p.Glu108Lys	RCV000038546	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39058696C>T	ClinVar
SOS1	Q07889	p.Glu108Lys	RCV000537356	missense variant	Rasopathy	NC_000002.12:g.39058696C>T	ClinVar
SOS1	Q07889	p.Glu108Gly	RCV000265265	missense variant	-	NC_000002.12:g.39058695T>C	ClinVar
SOS1	Q07889	p.Glu108Gly	rs886041923	missense variant	-	NC_000002.12:g.39058695T>C	-
SOS1	Q07889	p.Glu108Lys	RCV000159144	missense variant	-	NC_000002.12:g.39058696C>T	ClinVar
SOS1	Q07889	p.Glu108Lys	rs397517164	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058696C>T	UniProt,dbSNP
SOS1	Q07889	p.Glu108Lys	VAR_030423	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058696C>T	UniProt
SOS1	Q07889	p.Glu108Lys	rs397517164	missense variant	-	NC_000002.12:g.39058696C>T	-
SOS1	Q07889	p.Ile110Val	rs1276127499	missense variant	-	NC_000002.12:g.39058690T>C	TOPMed
SOS1	Q07889	p.Pro112Arg	rs397517166	missense variant	-	NC_000002.12:g.39058683G>C	-
SOS1	Q07889	p.Pro112Arg	rs397517166	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058683G>C	UniProt,dbSNP
SOS1	Q07889	p.Pro112Arg	VAR_066033	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39058683G>C	UniProt
SOS1	Q07889	p.Pro112Arg	RCV000038549	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39058683G>C	ClinVar
SOS1	Q07889	p.Glu116Gln	rs747505741	missense variant	-	NC_000002.12:g.39056866C>G	ExAC
SOS1	Q07889	p.Val117Leu	rs780406547	missense variant	-	NC_000002.12:g.39056863C>G	ExAC,gnomAD
SOS1	Q07889	p.Val117Gly	RCV000520887	missense variant	Rasopathy	NC_000002.12:g.39056862A>C	ClinVar
SOS1	Q07889	p.Val117Gly	rs201085754	missense variant	-	NC_000002.12:g.39056862A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu118Val	rs748805040	missense variant	-	NC_000002.12:g.39056860G>C	ExAC,gnomAD
SOS1	Q07889	p.Gly119Ala	rs777484168	missense variant	-	NC_000002.12:g.39056856C>G	ExAC,gnomAD
SOS1	Q07889	p.Gly119Asp	rs777484168	missense variant	-	NC_000002.12:g.39056856C>T	ExAC,gnomAD
SOS1	Q07889	p.His124Gln	rs1266876999	missense variant	-	NC_000002.12:g.39056840G>T	gnomAD
SOS1	Q07889	p.Gln125His	rs1400246247	missense variant	-	NC_000002.12:g.39056837C>G	gnomAD
SOS1	Q07889	p.Gln125Lys	RCV000038558	missense variant	-	NC_000002.12:g.39056839G>T	ClinVar
SOS1	Q07889	p.Gln125Lys	rs397517170	missense variant	-	NC_000002.12:g.39056839G>T	-
SOS1	Q07889	p.Val126Ile	rs755770649	missense variant	-	NC_000002.12:g.39056836C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val126Leu	rs755770649	missense variant	-	NC_000002.12:g.39056836C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val126Ile	RCV000780745	missense variant	-	NC_000002.12:g.39056836C>T	ClinVar
SOS1	Q07889	p.Val128Ile	rs752402979	missense variant	-	NC_000002.12:g.39056830C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val131Ala	rs754751004	missense variant	-	NC_000002.12:g.39056820A>G	ExAC,gnomAD
SOS1	Q07889	p.Tyr136Cys	rs1437526499	missense variant	-	NC_000002.12:g.39056805T>C	gnomAD
SOS1	Q07889	p.Ile137Leu	rs1249736646	missense variant	-	NC_000002.12:g.39056803T>G	gnomAD
SOS1	Q07889	p.Val145Ile	rs1263221891	missense variant	-	NC_000002.12:g.39056779C>T	TOPMed,gnomAD
SOS1	Q07889	p.Asn147Ser	rs1223107725	missense variant	-	NC_000002.12:g.39056772T>C	gnomAD
SOS1	Q07889	p.Arg153Gln	rs761951846	missense variant	-	NC_000002.12:g.39056754C>T	ExAC,gnomAD
SOS1	Q07889	p.Arg153Trp	rs952307464	missense variant	-	NC_000002.12:g.39056755G>A	TOPMed,gnomAD
SOS1	Q07889	p.Tyr155Cys	rs1188280924	missense variant	-	NC_000002.12:g.39056748T>C	TOPMed
SOS1	Q07889	p.Thr158Ile	rs776744951	missense variant	-	NC_000002.12:g.39056739G>A	ExAC,gnomAD
SOS1	Q07889	p.Thr158Ala	rs1238452977	missense variant	-	NC_000002.12:g.39056740T>C	gnomAD
SOS1	Q07889	p.Ile162Thr	rs1482721707	missense variant	-	NC_000002.12:g.39056727A>G	TOPMed,gnomAD
SOS1	Q07889	p.Lys163Glu	RCV000329053	missense variant	-	NC_000002.12:g.39056725T>C	ClinVar
SOS1	Q07889	p.Lys163Glu	RCV000764408	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39056725T>C	ClinVar
SOS1	Q07889	p.Lys163Glu	rs886042206	missense variant	-	NC_000002.12:g.39056725T>C	-
SOS1	Q07889	p.Ala165Gly	RCV000680638	missense variant	-	NC_000002.12:g.39056718G>C	ClinVar
SOS1	Q07889	p.Met166Val	rs1389080394	missense variant	-	NC_000002.12:g.39056716T>C	TOPMed,gnomAD
SOS1	Q07889	p.Cys167Tyr	rs768975865	missense variant	-	NC_000002.12:g.39056712C>T	ExAC,gnomAD
SOS1	Q07889	p.Lys170Glu	RCV000624105	missense variant	Inborn genetic diseases	NC_000002.12:g.39056704T>C	ClinVar
SOS1	Q07889	p.Lys170Glu	rs397517172	missense variant	-	NC_000002.12:g.39056704T>C	-
SOS1	Q07889	p.Lys170Glu	rs397517172	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39056704T>C	UniProt,dbSNP
SOS1	Q07889	p.Lys170Glu	VAR_066034	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39056704T>C	UniProt
SOS1	Q07889	p.Lys170Glu	RCV000038560	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39056704T>C	ClinVar
SOS1	Q07889	p.Lys170Glu	RCV000476014	missense variant	Rasopathy	NC_000002.12:g.39056704T>C	ClinVar
SOS1	Q07889	p.Lys170Glu	RCV000157689	missense variant	-	NC_000002.12:g.39056704T>C	ClinVar
SOS1	Q07889	p.Val171Gly	RCV000466303	missense variant	Rasopathy	NC_000002.12:g.39054822A>C	ClinVar
SOS1	Q07889	p.Val171Ala	RCV000038562	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39054822A>G	ClinVar
SOS1	Q07889	p.Val171Gly	rs397517174	missense variant	-	NC_000002.12:g.39054822A>C	-
SOS1	Q07889	p.Val171Ala	RCV000788003	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39054822A>G	ClinVar
SOS1	Q07889	p.Val171Gly	RCV000038563	missense variant	-	NC_000002.12:g.39054822A>C	ClinVar
SOS1	Q07889	p.Glu181Asp	rs201068374	missense variant	-	NC_000002.12:g.39054791T>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp182Asn	RCV000521975	missense variant	-	NC_000002.12:g.39054790C>T	ClinVar
SOS1	Q07889	p.Asp182Asn	rs1553362279	missense variant	-	NC_000002.12:g.39054790C>T	-
SOS1	Q07889	p.Ile183Thr	rs772569423	missense variant	-	NC_000002.12:g.39054786A>G	ExAC,gnomAD
SOS1	Q07889	p.Ile185Val	RCV000520723	missense variant	Rasopathy	NC_000002.12:g.39054781T>C	ClinVar
SOS1	Q07889	p.Ile185Val	rs143962515	missense variant	-	NC_000002.12:g.39054781T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile185Arg	rs1310407153	missense variant	-	NC_000002.12:g.39054780A>C	gnomAD
SOS1	Q07889	p.Ile185Met	rs771614273	missense variant	-	NC_000002.12:g.39054779T>C	ExAC,TOPMed
SOS1	Q07889	p.Leu186Ter	RCV000654937	frameshift	Rasopathy	NC_000002.12:g.39054774_39054778del	ClinVar
SOS1	Q07889	p.Ser187Tyr	rs730881038	missense variant	-	NC_000002.12:g.39054774G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu188Ser	rs967765514	missense variant	-	NC_000002.12:g.39054771A>G	TOPMed,gnomAD
SOS1	Q07889	p.Asp190Glu	rs55980502	missense variant	-	NC_000002.12:g.39054764G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu191Lys	RCV000761106	missense variant	Neuroblastoma (NBLST1)	NC_000002.12:g.39054763C>T	ClinVar
SOS1	Q07889	p.Glu191Lys	rs886041241	missense variant	-	NC_000002.12:g.39054763C>T	gnomAD
SOS1	Q07889	p.Glu191Lys	RCV000293469	missense variant	-	NC_000002.12:g.39054763C>T	ClinVar
SOS1	Q07889	p.Pro193Leu	rs1174182802	missense variant	-	NC_000002.12:g.39054756G>A	gnomAD
SOS1	Q07889	p.Thr195Ile	rs1202550799	missense variant	-	NC_000002.12:g.39054750G>A	gnomAD
SOS1	Q07889	p.Ser196Leu	RCV000213944	missense variant	-	NC_000002.12:g.39054747G>A	ClinVar
SOS1	Q07889	p.Ser196Leu	RCV000268538	missense variant	-	NC_000002.12:g.39054747G>A	ClinVar
SOS1	Q07889	p.Ser196Leu	RCV000358698	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39054747G>A	ClinVar
SOS1	Q07889	p.Ser196Leu	rs199898869	missense variant	-	NC_000002.12:g.39054747G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gly197Ala	rs1262897249	missense variant	-	NC_000002.12:g.39054744C>G	gnomAD
SOS1	Q07889	p.Gln199His	rs397517175	missense variant	-	NC_000002.12:g.39054737T>G	ExAC,gnomAD
SOS1	Q07889	p.Thr200Ser	rs143007609	missense variant	-	NC_000002.12:g.39054735G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val205Leu	rs1341328808	missense variant	-	NC_000002.12:g.39054721C>G	gnomAD
SOS1	Q07889	p.Ala207Ser	rs759310872	missense variant	-	NC_000002.12:g.39054715C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala207Val	rs1262404980	missense variant	-	NC_000002.12:g.39054714G>A	TOPMed
SOS1	Q07889	p.Ala207Thr	rs759310872	missense variant	-	NC_000002.12:g.39054715C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile212Met	rs1397573530	missense variant	-	NC_000002.12:g.39054698A>C	gnomAD
SOS1	Q07889	p.Arg213Gln	RCV000586137	missense variant	-	NC_000002.12:g.39054696C>T	ClinVar
SOS1	Q07889	p.Arg213Gln	rs374761537	missense variant	-	NC_000002.12:g.39054696C>T	ESP,ExAC,gnomAD
SOS1	Q07889	p.Gln214His	RCV000404559	missense variant	-	NC_000002.12:g.39054692T>A	ClinVar
SOS1	Q07889	p.Gln214His	rs886041696	missense variant	-	NC_000002.12:g.39054692T>A	-
SOS1	Q07889	p.Tyr215His	RCV000704276	missense variant	Rasopathy	NC_000002.12:g.39054691A>G	ClinVar
SOS1	Q07889	p.Tyr215His	rs730881039	missense variant	-	NC_000002.12:g.39054691A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile216Leu	rs752994841	missense variant	-	NC_000002.12:g.39054688T>A	ExAC
SOS1	Q07889	p.Leu221Val	rs1007628403	missense variant	-	NC_000002.12:g.39054673G>C	TOPMed,gnomAD
SOS1	Q07889	p.Leu221Ile	rs1007628403	missense variant	-	NC_000002.12:g.39054673G>T	TOPMed,gnomAD
SOS1	Q07889	p.Ile223Thr	RCV000038567	missense variant	-	NC_000002.12:g.39054666A>G	ClinVar
SOS1	Q07889	p.Ile223Met	RCV000520677	missense variant	-	NC_000002.12:g.39054665T>C	ClinVar
SOS1	Q07889	p.Ile223Met	rs1553362230	missense variant	-	NC_000002.12:g.39054665T>C	-
SOS1	Q07889	p.Ile223Val	rs759955925	missense variant	-	NC_000002.12:g.39054667T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile223Thr	rs397517176	missense variant	-	NC_000002.12:g.39054666A>G	-
SOS1	Q07889	p.Lys224Glu	rs889231089	missense variant	-	NC_000002.12:g.39054664T>C	gnomAD
SOS1	Q07889	p.Phe230Val	RCV000038568	missense variant	-	NC_000002.12:g.39054646A>C	ClinVar
SOS1	Q07889	p.Phe230Val	rs397517177	missense variant	-	NC_000002.12:g.39054646A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val231Ala	rs775942839	missense variant	-	NC_000002.12:g.39054642A>G	ExAC,gnomAD
SOS1	Q07889	p.Ser232Cys	rs1414554842	missense variant	-	NC_000002.12:g.39054639G>C	TOPMed
SOS1	Q07889	p.Asn233Ser	rs144934321	missense variant	-	NC_000002.12:g.39054636T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn233Tyr	rs1057519963	missense variant	-	NC_000002.12:g.39054637T>A	-
SOS1	Q07889	p.Asn233Tyr	RCV000444257	missense variant	Lung adenocarcinoma	NC_000002.12:g.39054637T>A	ClinVar
SOS1	Q07889	p.Asn233Ser	RCV000724504	missense variant	-	NC_000002.12:g.39054636T>C	ClinVar
SOS1	Q07889	p.Asn233Tyr	RCV000425749	missense variant	Malignant neoplasm of body of uterus	NC_000002.12:g.39054637T>A	ClinVar
SOS1	Q07889	p.Ala239Thr	rs746598933	missense variant	-	NC_000002.12:g.39054619C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn240Lys	rs779699814	missense variant	-	NC_000002.12:g.39054614A>C	ExAC,gnomAD
SOS1	Q07889	p.Val242Leu	rs1240620836	missense variant	-	NC_000002.12:g.39051284C>G	gnomAD
SOS1	Q07889	p.Ile245Val	rs763459953	missense variant	-	NC_000002.12:g.39051275T>C	ExAC,gnomAD
SOS1	Q07889	p.Phe246Tyr	rs760204614	missense variant	-	NC_000002.12:g.39051271A>T	ExAC,gnomAD
SOS1	Q07889	p.Arg248His	rs775052125	missense variant	-	NC_000002.12:g.39051265C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg248Leu	rs775052125	missense variant	-	NC_000002.12:g.39051265C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile249Thr	rs1324979194	missense variant	-	NC_000002.12:g.39051262A>G	gnomAD
SOS1	Q07889	p.Ile249Thr	RCV000654921	missense variant	Rasopathy	NC_000002.12:g.39051262A>G	ClinVar
SOS1	Q07889	p.Val250Ala	RCV000228572	missense variant	Rasopathy	NC_000002.12:g.39051259A>G	ClinVar
SOS1	Q07889	p.Val250Ala	rs139290271	missense variant	-	NC_000002.12:g.39051259A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile252Leu	rs1158811958	missense variant	-	NC_000002.12:g.39051254T>G	gnomAD
SOS1	Q07889	p.Ile252Thr	RCV000586619	missense variant	-	NC_000002.12:g.39051253A>G	ClinVar
SOS1	Q07889	p.Ile252Thr	rs142094234	missense variant	-	NC_000002.12:g.39051253A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile252Thr	rs142094234	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051253A>G	UniProt,dbSNP
SOS1	Q07889	p.Ile252Thr	VAR_066035	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051253A>G	UniProt
SOS1	Q07889	p.His253Tyr	RCV000279899	missense variant	-	NC_000002.12:g.39051251G>A	ClinVar
SOS1	Q07889	p.His253Tyr	rs886041934	missense variant	-	NC_000002.12:g.39051251G>A	-
SOS1	Q07889	p.Lys258Met	rs770792180	missense variant	-	NC_000002.12:g.39051235T>A	ExAC,gnomAD
SOS1	Q07889	p.Gly261Arg	rs1307150340	missense variant	-	NC_000002.12:g.39051227C>G	TOPMed
SOS1	Q07889	p.His262Arg	rs749132484	missense variant	-	NC_000002.12:g.39051223T>C	ExAC,gnomAD
SOS1	Q07889	p.His262Gln	rs1393013631	missense variant	-	NC_000002.12:g.39051222A>C	TOPMed
SOS1	Q07889	p.Ile263Thr	RCV000523181	missense variant	-	NC_000002.12:g.39051220A>G	ClinVar
SOS1	Q07889	p.Ile263Thr	rs1310500908	missense variant	-	NC_000002.12:g.39051220A>G	TOPMed
SOS1	Q07889	p.Thr266Lys	RCV000515403	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Thr266Lys	RCV000013729	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Thr266Lys	RCV000038570	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Thr266Lys	RCV000213007	missense variant	-	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Thr266Lys	rs137852812	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051211G>T	UniProt,dbSNP
SOS1	Q07889	p.Thr266Lys	VAR_030424	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051211G>T	UniProt
SOS1	Q07889	p.Thr266Lys	rs137852812	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39051211G>T	-
SOS1	Q07889	p.Thr266Lys	RCV000149833	missense variant	Rasopathy	NC_000002.12:g.39051211G>T	ClinVar
SOS1	Q07889	p.Val267Ala	rs748234666	missense variant	-	NC_000002.12:g.39051208A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met269Thr	RCV000622587	missense variant	Inborn genetic diseases	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Thr	RCV000539275	missense variant	Rasopathy	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Arg	RCV000013730	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>C	ClinVar
SOS1	Q07889	p.Met269Thr	rs137852813	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39051202A>G	-
SOS1	Q07889	p.Met269Thr	rs137852813	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>G	UniProt,dbSNP
SOS1	Q07889	p.Met269Thr	VAR_064504	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>G	UniProt
SOS1	Q07889	p.Met269Arg	rs137852813	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>C	UniProt,dbSNP
SOS1	Q07889	p.Met269Arg	VAR_030425	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>C	UniProt
SOS1	Q07889	p.Met269Arg	rs137852813	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39051202A>C	-
SOS1	Q07889	p.Met269Thr	RCV000157690	missense variant	-	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Thr	RCV000487454	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Arg	RCV000157691	missense variant	-	NC_000002.12:g.39051202A>C	ClinVar
SOS1	Q07889	p.Met269Arg	RCV000211854	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39051202A>C	ClinVar
SOS1	Q07889	p.Met269Thr	RCV000208414	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39051202A>G	ClinVar
SOS1	Q07889	p.Met269Arg	RCV000554031	missense variant	Rasopathy	NC_000002.12:g.39051202A>C	ClinVar
SOS1	Q07889	p.Pro277Thr	rs1057517871	missense variant	-	NC_000002.12:g.39051179G>T	-
SOS1	Q07889	p.Pro277Thr	RCV000414064	missense variant	-	NC_000002.12:g.39051179G>T	ClinVar
SOS1	Q07889	p.Val279Ile	rs188055807	missense variant	-	NC_000002.12:g.39051173C>T	1000Genomes,ExAC
SOS1	Q07889	p.Ser281Gly	RCV000038573	missense variant	-	NC_000002.12:g.39051167T>C	ClinVar
SOS1	Q07889	p.Ser281Gly	rs397517178	missense variant	-	NC_000002.12:g.39051167T>C	TOPMed,gnomAD
SOS1	Q07889	p.Cys282Tyr	rs1281947981	missense variant	-	NC_000002.12:g.39051163C>T	gnomAD
SOS1	Q07889	p.Phe283Leu	rs1222945881	missense variant	-	NC_000002.12:g.39051161A>G	TOPMed,gnomAD
SOS1	Q07889	p.Phe283Leu	RCV000681410	missense variant	-	NC_000002.12:g.39051161A>G	ClinVar
SOS1	Q07889	p.Phe283Leu	rs1484250031	missense variant	-	NC_000002.12:g.39051159A>C	TOPMed
SOS1	Q07889	p.Glu296Asp	rs1335105269	missense variant	-	NC_000002.12:g.39035477T>G	gnomAD
SOS1	Q07889	p.Ser297Leu	RCV000323255	missense variant	-	NC_000002.12:g.39035475G>A	ClinVar
SOS1	Q07889	p.Ser297Leu	rs779162761	missense variant	-	NC_000002.12:g.39035475G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg300Gln	RCV000800167	missense variant	Rasopathy	NC_000002.12:g.39035466C>T	ClinVar
SOS1	Q07889	p.Arg300Gly	rs757720349	missense variant	-	NC_000002.12:g.39035467G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg300Gln	RCV000307592	missense variant	-	NC_000002.12:g.39035466C>T	ClinVar
SOS1	Q07889	p.Arg300Gln	RCV000362251	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39035466C>T	ClinVar
SOS1	Q07889	p.Arg300Gln	rs754374236	missense variant	-	NC_000002.12:g.39035466C>T	ExAC,gnomAD
SOS1	Q07889	p.Arg304Leu	rs886254041	missense variant	-	NC_000002.12:g.39035454C>A	TOPMed,gnomAD
SOS1	Q07889	p.Arg304Gln	rs886254041	missense variant	-	NC_000002.12:g.39035454C>T	TOPMed,gnomAD
SOS1	Q07889	p.Arg304Pro	rs886254041	missense variant	-	NC_000002.12:g.39035454C>G	TOPMed,gnomAD
SOS1	Q07889	p.Arg304Ter	rs766965165	stop gained	-	NC_000002.12:g.39035455G>A	ExAC,gnomAD
SOS1	Q07889	p.Asp309Tyr	rs397517180	missense variant	-	NC_000002.12:g.39035440C>A	-
SOS1	Q07889	p.Asp309Tyr	rs397517180	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39035440C>A	UniProt,dbSNP
SOS1	Q07889	p.Asp309Tyr	VAR_030426	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39035440C>A	UniProt
SOS1	Q07889	p.Asp309Tyr	RCV000255002	missense variant	-	NC_000002.12:g.39035440C>A	ClinVar
SOS1	Q07889	p.Asp309Tyr	RCV000038575	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39035440C>A	ClinVar
SOS1	Q07889	p.Arg310His	RCV000038577	missense variant	-	NC_000002.12:g.39035436C>T	ClinVar
SOS1	Q07889	p.Arg310His	rs143481916	missense variant	-	NC_000002.12:g.39035436C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg310Cys	rs867539471	missense variant	-	NC_000002.12:g.39035437G>A	TOPMed,gnomAD
SOS1	Q07889	p.Arg310His	RCV000394772	missense variant	-	NC_000002.12:g.39035436C>T	ClinVar
SOS1	Q07889	p.Arg310His	RCV000349172	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39035436C>T	ClinVar
SOS1	Q07889	p.Leu312Arg	rs139274919	missense variant	-	NC_000002.12:g.39035430A>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu312Phe	rs1437202996	missense variant	-	NC_000002.12:g.39035431G>A	TOPMed
SOS1	Q07889	p.Gln314His	rs766049717	missense variant	-	NC_000002.12:g.39035423C>G	ExAC,gnomAD
SOS1	Q07889	p.Ser316Thr	rs762569805	missense variant	-	NC_000002.12:g.39035419A>T	ExAC,gnomAD
SOS1	Q07889	p.Ala321Val	rs148749327	missense variant	-	NC_000002.12:g.39035403G>A	ESP,gnomAD
SOS1	Q07889	p.Ala321Thr	RCV000681134	missense variant	-	NC_000002.12:g.39035404C>T	ClinVar
SOS1	Q07889	p.Ile327Val	rs758546951	missense variant	-	NC_000002.12:g.39035307T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile327Val	RCV000511020	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39035307T>C	ClinVar
SOS1	Q07889	p.Gly328Ser	rs1215944824	missense variant	-	NC_000002.12:g.39035304C>T	TOPMed
SOS1	Q07889	p.Glu329Lys	rs756679265	missense variant	-	NC_000002.12:g.39035301C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu329Lys	RCV000654955	missense variant	Rasopathy	NC_000002.12:g.39035301C>T	ClinVar
SOS1	Q07889	p.Glu333Asp	rs751065321	missense variant	-	NC_000002.12:g.39035287T>G	ExAC,gnomAD
SOS1	Q07889	p.Ala334Val	rs762599512	missense variant	-	NC_000002.12:g.39035285G>A	ExAC,gnomAD
SOS1	Q07889	p.Ala334Asp	rs762599512	missense variant	-	NC_000002.12:g.39035285G>T	ExAC,gnomAD
SOS1	Q07889	p.Ala334Thr	rs765820430	missense variant	-	NC_000002.12:g.39035286C>T	ExAC,gnomAD
SOS1	Q07889	p.Gln336Arg	RCV000226933	missense variant	Rasopathy	NC_000002.12:g.39035279T>C	ClinVar
SOS1	Q07889	p.Gln336Arg	rs765028553	missense variant	-	NC_000002.12:g.39035279T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Tyr337Cys	rs724160007	missense variant	-	NC_000002.12:g.39035276T>C	ExAC,gnomAD
SOS1	Q07889	p.Tyr337Cys	RCV000154291	missense variant	-	NC_000002.12:g.39035276T>C	ClinVar
SOS1	Q07889	p.Tyr337Cys	RCV000149848	missense variant	Rasopathy	NC_000002.12:g.39035276T>C	ClinVar
SOS1	Q07889	p.Pro340His	rs1367541617	missense variant	-	NC_000002.12:g.39035267G>T	TOPMed
SOS1	Q07889	p.Pro340Ser	RCV000788014	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39035268G>A	ClinVar
SOS1	Q07889	p.Pro340Ser	rs190222208	missense variant	-	NC_000002.12:g.39035268G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.His349Gln	rs1043516636	missense variant	-	NC_000002.12:g.39035239G>C	TOPMed,gnomAD
SOS1	Q07889	p.Leu351Phe	rs771185305	missense variant	-	NC_000002.12:g.39035235G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu351Val	rs771185305	missense variant	-	NC_000002.12:g.39035235G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu356Phe	RCV000681172	missense variant	-	NC_000002.12:g.39035220G>A	ClinVar
SOS1	Q07889	p.Leu357Val	rs1489141486	missense variant	-	NC_000002.12:g.39035217A>C	TOPMed,gnomAD
SOS1	Q07889	p.Lys358Glu	rs1394427827	missense variant	-	NC_000002.12:g.39035214T>C	TOPMed
SOS1	Q07889	p.Glu361Gln	rs1319230923	missense variant	-	NC_000002.12:g.39024131C>G	gnomAD
SOS1	Q07889	p.Asp366Glu	RCV000680311	missense variant	-	NC_000002.12:g.39024114A>T	ClinVar
SOS1	Q07889	p.Asp366Val	rs1056080833	missense variant	-	NC_000002.12:g.39024115T>A	TOPMed,gnomAD
SOS1	Q07889	p.Asp366Glu	rs730881040	missense variant	-	NC_000002.12:g.39024114A>T	-
SOS1	Q07889	p.Asp366Glu	RCV000764407	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39024114A>T	ClinVar
SOS1	Q07889	p.Ala376Gly	rs1347684399	missense variant	-	NC_000002.12:g.39024085G>C	TOPMed
SOS1	Q07889	p.Thr378Ala	rs397517146	missense variant	-	NC_000002.12:g.39024080T>C	UniProt,dbSNP
SOS1	Q07889	p.Thr378Ala	VAR_066036	missense variant	-	NC_000002.12:g.39024080T>C	UniProt
SOS1	Q07889	p.Thr378Ala	RCV000482668	missense variant	-	NC_000002.12:g.39024080T>C	ClinVar
SOS1	Q07889	p.Val383Leu	rs1313184916	missense variant	-	NC_000002.12:g.39024065C>G	gnomAD
SOS1	Q07889	p.Ile390Met	rs1380491347	missense variant	-	NC_000002.12:g.39024042T>C	gnomAD
SOS1	Q07889	p.Ser392Cys	rs749523988	missense variant	-	NC_000002.12:g.39024037G>C	ExAC,gnomAD
SOS1	Q07889	p.Phe407Tyr	rs1159603423	missense variant	-	NC_000002.12:g.39023208A>T	TOPMed,gnomAD
SOS1	Q07889	p.Gln411Leu	rs1362525333	missense variant	-	NC_000002.12:g.39023196T>A	gnomAD
SOS1	Q07889	p.Gln416Pro	rs1450272995	missense variant	-	NC_000002.12:g.39023181T>G	TOPMed
SOS1	Q07889	p.Leu417Pro	rs1181175917	missense variant	-	NC_000002.12:g.39023178A>G	gnomAD
SOS1	Q07889	p.Ala418Pro	rs1361403262	missense variant	-	NC_000002.12:g.39023176C>G	TOPMed
SOS1	Q07889	p.Lys421Met	rs769027463	missense variant	-	NC_000002.12:g.39023166T>A	ExAC,gnomAD
SOS1	Q07889	p.Met422Ile	rs1212129369	missense variant	-	NC_000002.12:g.39023162C>T	gnomAD
SOS1	Q07889	p.Met422Val	VAR_066037	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Asn423Lys	RCV000159188	missense variant	-	NC_000002.12:g.39023159G>C	ClinVar
SOS1	Q07889	p.Asn423Asp	rs747558911	missense variant	-	NC_000002.12:g.39023161T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn423Lys	rs138459502	missense variant	-	NC_000002.12:g.39023159G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu424Gly	RCV000795849	missense variant	Rasopathy	NC_000002.12:g.39023157T>C	ClinVar
SOS1	Q07889	p.Glu424Gly	RCV000159160	missense variant	-	NC_000002.12:g.39023157T>C	ClinVar
SOS1	Q07889	p.Glu424Lys	rs730881041	missense variant	-	NC_000002.12:g.39023158C>T	ExAC,gnomAD
SOS1	Q07889	p.Glu424Gly	rs730881042	missense variant	-	NC_000002.12:g.39023157T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu424Lys	RCV000159159	missense variant	-	NC_000002.12:g.39023158C>T	ClinVar
SOS1	Q07889	p.Gln426Lys	RCV000680953	missense variant	-	NC_000002.12:g.39023152G>T	ClinVar
SOS1	Q07889	p.Gln426Lys	RCV000800990	missense variant	Rasopathy	NC_000002.12:g.39023152G>T	ClinVar
SOS1	Q07889	p.Lys427_Asp430delinsAsn	VAR_066039	deletion_insertion	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Ile429Thr	rs755862687	missense variant	-	NC_000002.12:g.39023142A>G	ExAC,gnomAD
SOS1	Q07889	p.Gly431Ser	rs1223347034	missense variant	-	NC_000002.12:g.39023137C>T	TOPMed
SOS1	Q07889	p.Gly431Val	rs752423932	missense variant	-	NC_000002.12:g.39023136C>A	ExAC,gnomAD
SOS1	Q07889	p.Trp432Arg	RCV000159161	missense variant	-	NC_000002.12:g.39023134A>G	ClinVar
SOS1	Q07889	p.Trp432Arg	RCV000013733	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023134A>G	ClinVar
SOS1	Q07889	p.Trp432Arg	rs267607080	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023134A>G	UniProt,dbSNP
SOS1	Q07889	p.Trp432Arg	VAR_030428	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023134A>G	UniProt
SOS1	Q07889	p.Trp432Arg	rs267607080	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39023134A>G	-
SOS1	Q07889	p.Trp432Arg	RCV000818949	missense variant	Rasopathy	NC_000002.12:g.39023134A>G	ClinVar
SOS1	Q07889	p.Trp432Arg	RCV000211853	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023134A>G	ClinVar
SOS1	Q07889	p.Trp432_Glu433del	VAR_066040	inframe_deletion	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Glu433Lys	RCV000038513	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023131C>T	ClinVar
SOS1	Q07889	p.Glu433Lys	rs397517147	missense variant	-	NC_000002.12:g.39023131C>T	gnomAD
SOS1	Q07889	p.Glu433Lys	rs397517147	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023131C>T	UniProt,dbSNP
SOS1	Q07889	p.Glu433Lys	VAR_030429	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023131C>T	UniProt
SOS1	Q07889	p.Glu433Lys	RCV000157692	missense variant	-	NC_000002.12:g.39023131C>T	ClinVar
SOS1	Q07889	p.Glu433Lys	RCV000467110	missense variant	Rasopathy	NC_000002.12:g.39023131C>T	ClinVar
SOS1	Q07889	p.Gly434Lys	RCV000159179	missense variant	Rasopathy	NC_000002.12:g.39023127_39023128delinsTT	ClinVar
SOS1	Q07889	p.Gly434Glu	rs1264285931	missense variant	-	NC_000002.12:g.39023127C>T	TOPMed
SOS1	Q07889	p.Gly434Lys	rs730881048	missense variant	-	NC_000002.12:g.39023127_39023128delinsTT	-
SOS1	Q07889	p.Gly434Arg	rs397517148	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023128C>T	UniProt,dbSNP
SOS1	Q07889	p.Gly434Arg	VAR_030430	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023128C>T	UniProt
SOS1	Q07889	p.Gly434Arg	rs397517148	missense variant	-	NC_000002.12:g.39023128C>T	-
SOS1	Q07889	p.Gly434Arg	RCV000781878	missense variant	Rasopathy	NC_000002.12:g.39023128C>T	ClinVar
SOS1	Q07889	p.Gly434Arg	RCV000788323	missense variant	-	NC_000002.12:g.39023128C>T	ClinVar
SOS1	Q07889	p.Gly434Arg	RCV000038514	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023128C>T	ClinVar
SOS1	Q07889	p.Gly434Arg	RCV000626886	missense variant	Pulmonic stenosis	NC_000002.12:g.39023128C>T	ClinVar
SOS1	Q07889	p.Lys435Glu	rs138920742	missense variant	-	NC_000002.12:g.39023125T>C	ESP,TOPMed
SOS1	Q07889	p.Asp436His	rs1402768479	missense variant	-	NC_000002.12:g.39023122C>G	gnomAD
SOS1	Q07889	p.Ile437Thr	RCV000159164	missense variant	-	NC_000002.12:g.39023118A>G	ClinVar
SOS1	Q07889	p.Ile437Ser	rs397517150	missense variant	-	NC_000002.12:g.39023118A>C	-
SOS1	Q07889	p.Ile437Ser	RCV000159165	missense variant	-	NC_000002.12:g.39023118A>C	ClinVar
SOS1	Q07889	p.Ile437Thr	RCV000474085	missense variant	Rasopathy	NC_000002.12:g.39023118A>G	ClinVar
SOS1	Q07889	p.Ile437Thr	rs397517150	missense variant	-	NC_000002.12:g.39023118A>G	-
SOS1	Q07889	p.Ile437Thr	rs397517150	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023118A>G	UniProt,dbSNP
SOS1	Q07889	p.Ile437Thr	VAR_066042	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39023118A>G	UniProt
SOS1	Q07889	p.Ile437Thr	RCV000038516	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023118A>G	ClinVar
SOS1	Q07889	p.Gln439Pro	rs1057517861	missense variant	-	NC_000002.12:g.39023112T>G	TOPMed
SOS1	Q07889	p.Gln439Arg	rs1057517861	missense variant	-	NC_000002.12:g.39023112T>C	TOPMed
SOS1	Q07889	p.Gln439Pro	RCV000414005	missense variant	-	NC_000002.12:g.39023112T>G	ClinVar
SOS1	Q07889	p.Cys440Phe	rs1274358093	missense variant	-	NC_000002.12:g.39023109C>A	TOPMed,gnomAD
SOS1	Q07889	p.Cys441Tyr	RCV000154314	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39023106C>T	ClinVar
SOS1	Q07889	p.Cys441Tyr	RCV000534974	missense variant	Rasopathy	NC_000002.12:g.39023106C>T	ClinVar
SOS1	Q07889	p.Cys441Tyr	rs727504295	missense variant	-	NC_000002.12:g.39023106C>T	-
SOS1	Q07889	p.Cys441Tyr	RCV000159166	missense variant	-	NC_000002.12:g.39023106C>T	ClinVar
SOS1	Q07889	p.Met446Ile	rs751528749	missense variant	-	NC_000002.12:g.39023090C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr449Asn	rs1299224105	missense variant	-	NC_000002.12:g.39023082G>T	gnomAD
SOS1	Q07889	p.Thr451Arg	RCV000471377	missense variant	Rasopathy	NC_000002.12:g.39023076G>C	ClinVar
SOS1	Q07889	p.Thr451Lys	rs730880218	missense variant	-	NC_000002.12:g.39023076G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr451Ile	rs730880218	missense variant	-	NC_000002.12:g.39023076G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr451Arg	rs730880218	missense variant	-	NC_000002.12:g.39023076G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr451Arg	RCV000587209	missense variant	-	NC_000002.12:g.39023076G>C	ClinVar
SOS1	Q07889	p.Thr451Lys	RCV000157508	missense variant	Multiple cafe-au-lait spots	NC_000002.12:g.39023076G>T	ClinVar
SOS1	Q07889	p.Arg452Cys	rs1158553537	missense variant	-	NC_000002.12:g.39023074G>A	gnomAD
SOS1	Q07889	p.His457Arg	RCV000474019	missense variant	Rasopathy	NC_000002.12:g.39023058T>C	ClinVar
SOS1	Q07889	p.His457Arg	rs1060503524	missense variant	-	NC_000002.12:g.39023058T>C	-
SOS1	Q07889	p.Glu458Asp	RCV000353861	missense variant	-	NC_000002.12:g.39023054C>G	ClinVar
SOS1	Q07889	p.Glu458Asp	rs886042040	missense variant	-	NC_000002.12:g.39023054C>G	-
SOS1	Q07889	p.Ile461Val	rs1175506046	missense variant	-	NC_000002.12:g.39023047T>C	TOPMed
SOS1	Q07889	p.Phe462Tyr	RCV000159167	missense variant	-	NC_000002.12:g.39023043A>T	ClinVar
SOS1	Q07889	p.Phe462Tyr	rs730881043	missense variant	-	NC_000002.12:g.39023043A>T	TOPMed,gnomAD
SOS1	Q07889	p.Leu463Val	rs762150157	missense variant	-	NC_000002.12:g.39023041G>C	ExAC,gnomAD
SOS1	Q07889	p.Cys471Ser	RCV000038517	missense variant	-	NC_000002.12:g.39023016C>G	ClinVar
SOS1	Q07889	p.Cys471Tyr	RCV000595629	missense variant	-	NC_000002.12:g.39023016C>T	ClinVar
SOS1	Q07889	p.Cys471Tyr	rs397517151	missense variant	-	NC_000002.12:g.39023016C>T	gnomAD
SOS1	Q07889	p.Cys471Ser	rs397517151	missense variant	-	NC_000002.12:g.39023016C>G	gnomAD
SOS1	Q07889	p.Asn474Ser	rs776796335	missense variant	-	NC_000002.12:g.39023007T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gly476Ala	rs1448577878	missense variant	-	NC_000002.12:g.39023001C>G	gnomAD
SOS1	Q07889	p.Gln477Arg	RCV000159168	missense variant	-	NC_000002.12:g.39022998T>C	ClinVar
SOS1	Q07889	p.Gln477Arg	rs730881044	missense variant	-	NC_000002.12:g.39022998T>C	-
SOS1	Q07889	p.Gln477Lys	rs397517152	missense variant	-	NC_000002.12:g.39022999G>T	-
SOS1	Q07889	p.Gln477Lys	RCV000038518	missense variant	-	NC_000002.12:g.39022999G>T	ClinVar
SOS1	Q07889	p.Pro478Leu	rs1553356111	missense variant	-	NC_000002.12:g.39022995G>A	UniProt,dbSNP
SOS1	Q07889	p.Pro478Leu	VAR_066043	missense variant	-	NC_000002.12:g.39022995G>A	UniProt
SOS1	Q07889	p.Pro478Leu	rs1553356111	missense variant	-	NC_000002.12:g.39022995G>A	-
SOS1	Q07889	p.Pro478Ala	rs769098661	missense variant	-	NC_000002.12:g.39022996G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro478Leu	RCV000612204	missense variant	-	NC_000002.12:g.39022995G>A	ClinVar
SOS1	Q07889	p.Pro478Arg	VAR_066044	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Pro481Leu	rs730880383	missense variant	-	NC_000002.12:g.39022986G>A	-
SOS1	Q07889	p.Pro481Leu	RCV000157695	missense variant	-	NC_000002.12:g.39022986G>A	ClinVar
SOS1	Q07889	p.Gly482Arg	rs1431574387	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022984C>G	UniProt,dbSNP
SOS1	Q07889	p.Gly482Arg	VAR_066045	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022984C>G	UniProt
SOS1	Q07889	p.Gly482Arg	rs1431574387	missense variant	-	NC_000002.12:g.39022984C>G	TOPMed
SOS1	Q07889	p.Ser484Arg	rs730880384	missense variant	-	NC_000002.12:g.39022976G>T	ExAC,gnomAD
SOS1	Q07889	p.Ser484Arg	RCV000157696	missense variant	-	NC_000002.12:g.39022976G>T	ClinVar
SOS1	Q07889	p.Asn485Ser	RCV000780746	missense variant	-	NC_000002.12:g.39022974T>C	ClinVar
SOS1	Q07889	p.Asn485Ser	rs140671910	missense variant	-	NC_000002.12:g.39022974T>C	ESP,TOPMed
SOS1	Q07889	p.Ala486Gly	rs373737492	missense variant	-	NC_000002.12:g.39022971G>C	ESP,TOPMed
SOS1	Q07889	p.Glu487Lys	RCV000414536	missense variant	-	NC_000002.12:g.39022969C>T	ClinVar
SOS1	Q07889	p.Glu487Lys	rs1057517897	missense variant	-	NC_000002.12:g.39022969C>T	-
SOS1	Q07889	p.Arg489His	rs994463655	missense variant	-	NC_000002.12:g.39022962C>T	TOPMed
SOS1	Q07889	p.Leu490Arg	VAR_066046	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Glu492Gly	rs1347617225	missense variant	-	NC_000002.12:g.39022953T>C	TOPMed
SOS1	Q07889	p.Phe494Leu	rs560485707	missense variant	-	NC_000002.12:g.39022946A>C	1000Genomes
SOS1	Q07889	p.Arg497Gln	RCV000156991	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Arg497Gln	RCV000656980	missense variant	-	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Arg497Gln	RCV000801491	missense variant	Rasopathy	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Arg497Gln	RCV000038519	missense variant	-	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Arg497Gln	rs371314838	missense variant	-	NC_000002.12:g.39022938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg497Gln	rs371314838	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022938C>T	UniProt,dbSNP
SOS1	Q07889	p.Arg497Gln	VAR_064506	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022938C>T	UniProt
SOS1	Q07889	p.Arg497Gln	RCV000761020	missense variant	Low Grade Glioma	NC_000002.12:g.39022938C>T	ClinVar
SOS1	Q07889	p.Val499Ala	rs747840148	missense variant	-	NC_000002.12:g.39022932A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val499Leu	rs1315811250	missense variant	-	NC_000002.12:g.39022933C>A	TOPMed
SOS1	Q07889	p.Asp503His	rs1264856949	missense variant	-	NC_000002.12:g.39022921C>G	TOPMed
SOS1	Q07889	p.Asp503Val	rs1470603059	missense variant	-	NC_000002.12:g.39022920T>A	gnomAD
SOS1	Q07889	p.Thr507Pro	rs1408893602	missense variant	-	NC_000002.12:g.39022909T>G	gnomAD
SOS1	Q07889	p.Asn508Ser	rs751404198	missense variant	-	NC_000002.12:g.39022905T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn508His	rs754823642	missense variant	-	NC_000002.12:g.39022906T>G	ExAC,gnomAD
SOS1	Q07889	p.Tyr510His	RCV000593003	missense variant	-	NC_000002.12:g.39022900A>G	ClinVar
SOS1	Q07889	p.Tyr510His	rs201404055	missense variant	-	NC_000002.12:g.39022900A>G	ExAC,gnomAD
SOS1	Q07889	p.Tyr510Asn	rs201404055	missense variant	-	NC_000002.12:g.39022900A>T	ExAC,gnomAD
SOS1	Q07889	p.Lys511Arg	rs758393921	missense variant	-	NC_000002.12:g.39022896T>C	ExAC,gnomAD
SOS1	Q07889	p.His512Leu	rs781159925	missense variant	-	NC_000002.12:g.39022893T>A	gnomAD
SOS1	Q07889	p.His512Arg	rs781159925	missense variant	-	NC_000002.12:g.39022893T>C	gnomAD
SOS1	Q07889	p.Ala513Ser	rs368049212	missense variant	-	NC_000002.12:g.39022891C>A	ESP
SOS1	Q07889	p.Phe514Leu	rs561772850	missense variant	-	NC_000002.12:g.39022888A>G	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Lys519Glu	rs1006899351	missense variant	-	NC_000002.12:g.39022873T>C	TOPMed
SOS1	Q07889	p.Asp520Asn	rs754115060	missense variant	-	NC_000002.12:g.39022870C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp520Gly	rs1201240700	missense variant	-	NC_000002.12:g.39022869T>C	gnomAD
SOS1	Q07889	p.Asp520Tyr	rs754115060	missense variant	-	NC_000002.12:g.39022870C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu521Lys	rs764275648	missense variant	-	NC_000002.12:g.39022867C>T	ExAC,gnomAD
SOS1	Q07889	p.Asn522His	RCV000217384	missense variant	-	NC_000002.12:g.39022864T>G	ClinVar
SOS1	Q07889	p.Asn522His	RCV000764406	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39022864T>G	ClinVar
SOS1	Q07889	p.Asn522His	rs761094509	missense variant	-	NC_000002.12:g.39022864T>G	ExAC,gnomAD
SOS1	Q07889	p.Ser523Arg	rs772693927	missense variant	-	NC_000002.12:g.39022859A>C	ExAC,TOPMed
SOS1	Q07889	p.Ser523Asn	rs1156669922	missense variant	-	NC_000002.12:g.39022860C>T	TOPMed
SOS1	Q07889	p.Ile525Thr	RCV000350752	missense variant	-	NC_000002.12:g.39022854A>G	ClinVar
SOS1	Q07889	p.Ile525Thr	rs146722878	missense variant	-	NC_000002.12:g.39022854A>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile525Thr	RCV000578082	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022854A>G	ClinVar
SOS1	Q07889	p.Ile525Val	rs1359371990	missense variant	-	NC_000002.12:g.39022855T>C	gnomAD
SOS1	Q07889	p.Ser527Pro	rs1160582057	missense variant	-	NC_000002.12:g.39022849A>G	TOPMed
SOS1	Q07889	p.Glu533Lys	rs780038520	missense variant	-	NC_000002.12:g.39022831C>T	gnomAD
SOS1	Q07889	p.Asn535Ile	rs772531990	missense variant	-	NC_000002.12:g.39022824T>A	ExAC,gnomAD
SOS1	Q07889	p.Asn535Thr	rs772531990	missense variant	-	NC_000002.12:g.39022824T>G	ExAC,gnomAD
SOS1	Q07889	p.Asn536Ser	rs1363908468	missense variant	-	NC_000002.12:g.39022821T>C	TOPMed
SOS1	Q07889	p.Met538Ile	rs1333124172	missense variant	-	NC_000002.12:g.39022814C>T	TOPMed
SOS1	Q07889	p.Met538Thr	rs1304003551	missense variant	-	NC_000002.12:g.39022815A>G	TOPMed
SOS1	Q07889	p.Ile542Met	rs746798986	missense variant	-	NC_000002.12:g.39022802T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile542Met	RCV000373537	missense variant	-	NC_000002.12:g.39022802T>C	ClinVar
SOS1	Q07889	p.Ile542Val	rs768230059	missense variant	-	NC_000002.12:g.39022804T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser543Pro	rs981234810	missense variant	-	NC_000002.12:g.39022801A>G	gnomAD
SOS1	Q07889	p.Ser543Pro	RCV000588660	missense variant	-	NC_000002.12:g.39022801A>G	ClinVar
SOS1	Q07889	p.Ser543Pro	RCV000414260	missense variant	-	NC_000002.12:g.39022801A>G	ClinVar
SOS1	Q07889	p.Gln545Arg	rs779879442	missense variant	-	NC_000002.12:g.39022794T>C	ExAC,gnomAD
SOS1	Q07889	p.Arg547Gln	rs149775695	missense variant	-	NC_000002.12:g.39022788C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser548Arg	RCV000159171	missense variant	-	NC_000002.12:g.39022784A>T	ClinVar
SOS1	Q07889	p.Ser548Arg	rs730881045	missense variant	-	NC_000002.12:g.39022784A>T	-
SOS1	Q07889	p.Ser548Arg	rs397517149	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022786T>G	UniProt,dbSNP
SOS1	Q07889	p.Ser548Arg	VAR_030432	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022786T>G	UniProt
SOS1	Q07889	p.Ser548Arg	RCV000623399	missense variant	Inborn genetic diseases	NC_000002.12:g.39022786T>G	ClinVar
SOS1	Q07889	p.Thr549Ala	RCV000681394	missense variant	-	NC_000002.12:g.39022783T>C	ClinVar
SOS1	Q07889	p.Thr549Lys	RCV000696409	missense variant	Rasopathy	NC_000002.12:g.39022782G>T	ClinVar
SOS1	Q07889	p.Thr549Lys	RCV000780747	missense variant	-	NC_000002.12:g.39022782G>T	ClinVar
SOS1	Q07889	p.Thr549Lys	rs730881046	missense variant	-	NC_000002.12:g.39022782G>T	-
SOS1	Q07889	p.Leu550Pro	RCV000159172	missense variant	-	NC_000002.12:g.39022779A>G	ClinVar
SOS1	Q07889	p.Leu550Arg	rs397517153	missense variant	-	NC_000002.12:g.39022779A>C	gnomAD
SOS1	Q07889	p.Leu550Pro	rs397517153	missense variant	-	NC_000002.12:g.39022779A>G	gnomAD
SOS1	Q07889	p.Leu550Pro	rs397517153	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022779A>G	UniProt,dbSNP
SOS1	Q07889	p.Leu550Pro	VAR_030433	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022779A>G	UniProt
SOS1	Q07889	p.Leu550Pro	RCV000550001	missense variant	Rasopathy	NC_000002.12:g.39022779A>G	ClinVar
SOS1	Q07889	p.Leu550Pro	RCV000038520	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022779A>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000515298	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000787997	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000213008	missense variant	-	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Arg552Thr	RCV000528274	missense variant	Rasopathy	NC_000002.12:g.39022773C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000763086	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000013732	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000013731	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000159174	missense variant	Rasopathy	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Thr	rs397517154	missense variant	-	NC_000002.12:g.39022773C>G	gnomAD
SOS1	Q07889	p.Arg552Thr	rs397517154	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>G	UniProt,dbSNP
SOS1	Q07889	p.Arg552Thr	VAR_066049	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>G	UniProt
SOS1	Q07889	p.Arg552Lys	rs397517154	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>T	UniProt,dbSNP
SOS1	Q07889	p.Arg552Lys	VAR_030435	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>T	UniProt
SOS1	Q07889	p.Arg552Trp	rs137852814	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39022774T>A	TOPMed,gnomAD
SOS1	Q07889	p.Arg552Met	rs397517154	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>A	UniProt,dbSNP
SOS1	Q07889	p.Arg552Met	VAR_066048	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022773C>A	UniProt
SOS1	Q07889	p.Arg552Met	rs397517154	missense variant	-	NC_000002.12:g.39022773C>A	gnomAD
SOS1	Q07889	p.Arg552Ser	rs267607079	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39022772C>G	-
SOS1	Q07889	p.Arg552Lys	rs397517154	missense variant	-	NC_000002.12:g.39022773C>T	gnomAD
SOS1	Q07889	p.Arg552Ser	RCV000787998	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000156992	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000654947	missense variant	Rasopathy	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000038525	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000159177	missense variant	-	NC_000002.12:g.39022772C>G	ClinVar
SOS1	Q07889	p.Arg552Ser	RCV000149832	missense variant	Rasopathy	NC_000002.12:g.39022772C>A	ClinVar
SOS1	Q07889	p.Arg552Trp	RCV000787999	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39022774T>A	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000156980	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Thr	RCV000159176	missense variant	-	NC_000002.12:g.39022773C>G	ClinVar
SOS1	Q07889	p.Arg552Thr	RCV000626887	missense variant	-	NC_000002.12:g.39022773C>G	ClinVar
SOS1	Q07889	p.Arg552Thr	RCV000208093	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022773C>G	ClinVar
SOS1	Q07889	p.Arg552Met	RCV000787996	missense variant	Noonan syndrome and Noonan-related syndrome	NC_000002.12:g.39022773C>A	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000157693	missense variant	-	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Gly	RCV000515160	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39022774T>C	ClinVar
SOS1	Q07889	p.Arg552Gly	rs137852814	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022774T>C	UniProt,dbSNP
SOS1	Q07889	p.Arg552Gly	VAR_030434	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022774T>C	UniProt
SOS1	Q07889	p.Arg552Gly	rs137852814	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39022774T>C	TOPMed,gnomAD
SOS1	Q07889	p.Arg552Ser	rs267607079	missense variant	Noonan syndrome 4 (ns4)	NC_000002.12:g.39022772C>A	-
SOS1	Q07889	p.Arg552Ser	rs267607079	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022772C>A	UniProt,dbSNP
SOS1	Q07889	p.Arg552Ser	VAR_030436	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39022772C>A	UniProt
SOS1	Q07889	p.Arg552Lys	RCV000157017	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022773C>T	ClinVar
SOS1	Q07889	p.Arg552Lys	RCV000587705	missense variant	Noonan syndrome 3 (NS3)	NC_000002.12:g.39022773C>T	ClinVar
SOS1	Q07889	p.Arg552Lys	RCV000159175	missense variant	-	NC_000002.12:g.39022773C>T	ClinVar
SOS1	Q07889	p.Met553Ile	rs886056025	missense variant	-	NC_000002.12:g.39022769C>T	-
SOS1	Q07889	p.Met553Ile	RCV000375653	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022769C>T	ClinVar
SOS1	Q07889	p.Met553Ile	RCV000337250	missense variant	-	NC_000002.12:g.39022769C>T	ClinVar
SOS1	Q07889	p.Leu554Phe	rs757341897	missense variant	-	NC_000002.12:g.39022768G>A	ExAC,gnomAD
SOS1	Q07889	p.Leu554_Met558delinsLys	VAR_066050	deletion_insertion	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Val556Leu	rs753909912	missense variant	-	NC_000002.12:g.39022762C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val556Leu	rs753909912	missense variant	-	NC_000002.12:g.39022762C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val556Ile	rs753909912	missense variant	-	NC_000002.12:g.39022762C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr557Arg	rs1245953394	missense variant	-	NC_000002.12:g.39022758G>C	gnomAD
SOS1	Q07889	p.Thr557Pro	rs1427526552	missense variant	-	NC_000002.12:g.39022759T>G	TOPMed,gnomAD
SOS1	Q07889	p.Met558Val	rs371295853	missense variant	-	NC_000002.12:g.39022756T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met558Ile	rs753055115	missense variant	-	NC_000002.12:g.39022754C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met558Thr	rs201624023	missense variant	-	NC_000002.12:g.39022755A>G	1000Genomes,TOPMed
SOS1	Q07889	p.Glu561Gly	rs181132805	missense variant	-	NC_000002.12:g.39022746T>C	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Glu561Lys	rs1393222137	missense variant	-	NC_000002.12:g.39022747C>T	TOPMed
SOS1	Q07889	p.Glu562Asp	rs199778219	missense variant	-	NC_000002.12:g.39022742C>G	1000Genomes,TOPMed
SOS1	Q07889	p.Glu562Asp	rs199778219	missense variant	-	NC_000002.12:g.39022742C>A	1000Genomes,TOPMed
SOS1	Q07889	p.Lys563Arg	rs774944155	missense variant	-	NC_000002.12:g.39022740T>C	ExAC,gnomAD
SOS1	Q07889	p.Glu564Ala	rs571743548	missense variant	-	NC_000002.12:g.39022737T>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu564Gly	rs571743548	missense variant	-	NC_000002.12:g.39022737T>C	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu564Lys	rs1386900583	missense variant	-	NC_000002.12:g.39022738C>T	gnomAD
SOS1	Q07889	p.Glu565Lys	rs1423209129	missense variant	-	NC_000002.12:g.39022735C>T	gnomAD
SOS1	Q07889	p.Gln566His	rs1313575751	missense variant	-	NC_000002.12:g.39022730C>G	TOPMed
SOS1	Q07889	p.Met567Thr	rs1408544158	missense variant	-	NC_000002.12:g.39022728A>G	gnomAD
SOS1	Q07889	p.Leu569Val	rs200786705	missense variant	-	NC_000002.12:g.39022723G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu569Val	rs200786705	missense variant	-	NC_000002.12:g.39022723G>C	UniProt,dbSNP
SOS1	Q07889	p.Leu569Val	VAR_066051	missense variant	-	NC_000002.12:g.39022723G>C	UniProt
SOS1	Q07889	p.Leu569Val	RCV000223591	missense variant	-	NC_000002.12:g.39022723G>C	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000155902	missense variant	-	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000284494	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000764405	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000654926	missense variant	Rasopathy	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	rs727504641	missense variant	-	NC_000002.12:g.39022708C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val574Ile	RCV000586070	missense variant	-	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Val574Ile	RCV000376698	missense variant	-	NC_000002.12:g.39022708C>T	ClinVar
SOS1	Q07889	p.Arg576Ile	rs1553356023	missense variant	-	NC_000002.12:g.39022701C>A	-
SOS1	Q07889	p.Arg576Ile	RCV000596268	missense variant	-	NC_000002.12:g.39022701C>A	ClinVar
SOS1	Q07889	p.Ala578Thr	rs1290072717	missense variant	-	NC_000002.12:g.39022696C>T	gnomAD
SOS1	Q07889	p.Glu583Asp	rs1477519893	missense variant	-	NC_000002.12:g.39022679T>G	gnomAD
SOS1	Q07889	p.Glu584Lys	rs771878514	missense variant	-	NC_000002.12:g.39022678C>T	ExAC,TOPMed
SOS1	Q07889	p.Glu584Gly	rs780325631	missense variant	-	NC_000002.12:g.39022677T>C	gnomAD
SOS1	Q07889	p.Asn585Ser	rs973357107	missense variant	-	NC_000002.12:g.39022674T>C	TOPMed,gnomAD
SOS1	Q07889	p.Ile587Thr	rs1553356018	missense variant	-	NC_000002.12:g.39022668A>G	-
SOS1	Q07889	p.Ile587Val	rs1458063607	missense variant	-	NC_000002.12:g.39022669T>C	TOPMed
SOS1	Q07889	p.Ile587Thr	RCV000520823	missense variant	-	NC_000002.12:g.39022668A>G	ClinVar
SOS1	Q07889	p.Phe588Leu	rs745702386	missense variant	-	NC_000002.12:g.39022666A>G	ExAC,gnomAD
SOS1	Q07889	p.Glu590Gln	rs730881047	missense variant	-	NC_000002.12:g.39022660C>G	TOPMed,gnomAD
SOS1	Q07889	p.Asn591Ser	RCV000523182	missense variant	Rasopathy	NC_000002.12:g.39022656T>C	ClinVar
SOS1	Q07889	p.Asn591Ser	rs757213444	missense variant	-	NC_000002.12:g.39022656T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn591Ser	RCV000606527	missense variant	-	NC_000002.12:g.39022656T>C	ClinVar
SOS1	Q07889	p.Lys595Glu	rs1184345251	missense variant	-	NC_000002.12:g.39022645T>C	TOPMed
SOS1	Q07889	p.Ala596Gly	rs749375187	missense variant	-	NC_000002.12:g.39022641G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala596Asp	rs749375187	missense variant	-	NC_000002.12:g.39022641G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile598Thr	rs777730053	missense variant	-	NC_000002.12:g.39022635A>G	ExAC,gnomAD
SOS1	Q07889	p.Pro599Thr	rs1474528754	missense variant	-	NC_000002.12:g.39022633G>T	TOPMed
SOS1	Q07889	p.Ile600Leu	rs373139450	missense variant	-	NC_000002.12:g.39022630T>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile600Val	rs373139450	missense variant	-	NC_000002.12:g.39022630T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile600Met	rs767942997	missense variant	-	NC_000002.12:g.39022628A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile601Thr	RCV000681051	missense variant	-	NC_000002.12:g.39022626A>G	ClinVar
SOS1	Q07889	p.Thr605Asn	rs755371745	missense variant	-	NC_000002.12:g.39022614G>T	ExAC,gnomAD
SOS1	Q07889	p.Ile607Thr	RCV000589437	missense variant	-	NC_000002.12:g.39022608A>G	ClinVar
SOS1	Q07889	p.Ile607Thr	rs758699499	missense variant	-	NC_000002.12:g.39022608A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile610Thr	RCV000654933	missense variant	Rasopathy	NC_000002.12:g.39022599A>G	ClinVar
SOS1	Q07889	p.Ile610Val	rs763425122	missense variant	-	NC_000002.12:g.39022600T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile610Thr	rs776146535	missense variant	-	NC_000002.12:g.39022599A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met617Ile	rs771755730	missense variant	-	NC_000002.12:g.39022577C>A	ExAC,gnomAD
SOS1	Q07889	p.Met617Thr	rs775105134	missense variant	-	NC_000002.12:g.39022578A>G	ExAC,gnomAD
SOS1	Q07889	p.Met617Thr	RCV000654972	missense variant	Rasopathy	NC_000002.12:g.39022578A>G	ClinVar
SOS1	Q07889	p.Asp620Gly	rs1057517918	missense variant	-	NC_000002.12:g.39014846T>C	-
SOS1	Q07889	p.Asp620Gly	RCV000414295	missense variant	-	NC_000002.12:g.39014846T>C	ClinVar
SOS1	Q07889	p.Pro621Leu	rs1282835492	missense variant	-	NC_000002.12:g.39014843G>A	TOPMed
SOS1	Q07889	p.Asn622Ser	rs145443784	missense variant	-	NC_000002.12:g.39014840T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Phe623Val	RCV000156537	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39014838A>C	ClinVar
SOS1	Q07889	p.Phe623Leu	rs1168794388	missense variant	-	NC_000002.12:g.39014836A>C	gnomAD
SOS1	Q07889	p.Phe623Val	rs727505093	missense variant	-	NC_000002.12:g.39014838A>C	-
SOS1	Q07889	p.Phe623Val	RCV000414349	missense variant	-	NC_000002.12:g.39014838A>C	ClinVar
SOS1	Q07889	p.Phe623Ile	VAR_066052	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Phe627Cys	rs1057518197	missense variant	-	NC_000002.12:g.39014825A>C	-
SOS1	Q07889	p.Phe627Cys	RCV000412837	missense variant	-	NC_000002.12:g.39014825A>C	ClinVar
SOS1	Q07889	p.Tyr631Phe	rs770664679	missense variant	-	NC_000002.12:g.39014813T>A	ExAC,gnomAD
SOS1	Q07889	p.Gln638Pro	rs1186009767	missense variant	-	NC_000002.12:g.39014792T>G	gnomAD
SOS1	Q07889	p.Ser642Asn	rs1255590207	missense variant	-	NC_000002.12:g.39014780C>T	gnomAD
SOS1	Q07889	p.Ile644Thr	rs769891933	missense variant	-	NC_000002.12:g.39014774A>G	ExAC,gnomAD
SOS1	Q07889	p.Ile644Thr	RCV000475259	missense variant	Rasopathy	NC_000002.12:g.39014774A>G	ClinVar
SOS1	Q07889	p.Ile644Val	rs1196416900	missense variant	-	NC_000002.12:g.39014775T>C	gnomAD
SOS1	Q07889	p.Ile645Thr	rs1356040248	missense variant	-	NC_000002.12:g.39014771A>G	gnomAD
SOS1	Q07889	p.Pro651Ser	rs1180625027	missense variant	-	NC_000002.12:g.39013979G>A	TOPMed,gnomAD
SOS1	Q07889	p.Pro651Leu	rs773205186	missense variant	-	NC_000002.12:g.39013978G>A	ExAC,gnomAD
SOS1	Q07889	p.Glu652Gln	rs1408868952	missense variant	-	NC_000002.12:g.39013976C>G	gnomAD
SOS1	Q07889	p.Pro655Leu	rs56219475	missense variant	-	NC_000002.12:g.39013966G>A	UniProt,dbSNP
SOS1	Q07889	p.Pro655Leu	VAR_030437	missense variant	-	NC_000002.12:g.39013966G>A	UniProt
SOS1	Q07889	p.Pro655Leu	rs56219475	missense variant	-	NC_000002.12:g.39013966G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro655Leu	RCV000038527	missense variant	-	NC_000002.12:g.39013966G>A	ClinVar
SOS1	Q07889	p.Pro655Leu	RCV000755394	missense variant	-	NC_000002.12:g.39013966G>A	ClinVar
SOS1	Q07889	p.Pro655Leu	RCV000852770	missense variant	Arrhythmogenic right ventricular cardiomyopathy (ARVD)	NC_000002.12:g.39013966G>A	ClinVar
SOS1	Q07889	p.Pro655Leu	RCV000149843	missense variant	Rasopathy	NC_000002.12:g.39013966G>A	ClinVar
SOS1	Q07889	p.Thr656Ile	rs1390446172	missense variant	-	NC_000002.12:g.39013963G>A	gnomAD
SOS1	Q07889	p.Thr656Ala	rs1198308466	missense variant	-	NC_000002.12:g.39013964T>C	TOPMed
SOS1	Q07889	p.Ala658Val	rs1159717692	missense variant	-	NC_000002.12:g.39013957G>A	gnomAD
SOS1	Q07889	p.Asp659Glu	RCV000519258	missense variant	-	NC_000002.12:g.39013953A>T	ClinVar
SOS1	Q07889	p.Asp659Glu	rs1362181978	missense variant	-	NC_000002.12:g.39013953A>T	gnomAD
SOS1	Q07889	p.Asp659Asn	rs768647478	missense variant	-	NC_000002.12:g.39013955C>T	ExAC,gnomAD
SOS1	Q07889	p.Arg660His	rs1258974608	missense variant	-	NC_000002.12:g.39013951C>T	TOPMed
SOS1	Q07889	p.Ile661Met	rs747203627	missense variant	-	NC_000002.12:g.39013947T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile661Val	rs1181488319	missense variant	-	NC_000002.12:g.39013949T>C	gnomAD
SOS1	Q07889	p.Ile663Met	rs587781172	missense variant	-	NC_000002.12:g.39013941T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile663Val	RCV000159116	missense variant	-	NC_000002.12:g.39013943T>C	ClinVar
SOS1	Q07889	p.Ile663Val	rs730881024	missense variant	-	NC_000002.12:g.39013943T>C	gnomAD
SOS1	Q07889	p.Ile663Lys	rs1048869073	missense variant	-	NC_000002.12:g.39013942A>T	TOPMed,gnomAD
SOS1	Q07889	p.Ile663Thr	rs1048869073	missense variant	-	NC_000002.12:g.39013942A>G	TOPMed,gnomAD
SOS1	Q07889	p.Ile663Leu	rs730881024	missense variant	-	NC_000002.12:g.39013943T>G	gnomAD
SOS1	Q07889	p.Glu664Gln	rs138555160	missense variant	-	NC_000002.12:g.39013940C>G	ESP,TOPMed,gnomAD
SOS1	Q07889	p.Asn665Lys	rs779262456	missense variant	-	NC_000002.12:g.39013935A>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp667Asn	rs757698688	missense variant	-	NC_000002.12:g.39013931C>T	ExAC,gnomAD
SOS1	Q07889	p.Asp667Tyr	rs757698688	missense variant	-	NC_000002.12:g.39013931C>A	ExAC,gnomAD
SOS1	Q07889	p.Asp667Glu	rs1369733808	missense variant	-	NC_000002.12:g.39013929A>C	TOPMed
SOS1	Q07889	p.Gln668Arg	rs1227177181	missense variant	-	NC_000002.12:g.39013927T>C	gnomAD
SOS1	Q07889	p.Leu670Phe	rs200712930	missense variant	-	NC_000002.12:g.39013920C>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu670Trp	rs1284864769	missense variant	-	NC_000002.12:g.39013921A>C	gnomAD
SOS1	Q07889	p.Leu670Phe	RCV000518853	missense variant	Rasopathy	NC_000002.12:g.39013920C>G	ClinVar
SOS1	Q07889	p.Ser671Thr	rs1060503525	missense variant	-	NC_000002.12:g.39013918C>G	gnomAD
SOS1	Q07889	p.Ser671Thr	RCV000461901	missense variant	Rasopathy	NC_000002.12:g.39013918C>G	ClinVar
SOS1	Q07889	p.Ile682Val	rs1402974688	missense variant	-	NC_000002.12:g.39013886T>C	gnomAD
SOS1	Q07889	p.Pro684Leu	rs397517155	missense variant	-	NC_000002.12:g.39013879G>A	gnomAD
SOS1	Q07889	p.Pro684Leu	RCV000038528	missense variant	-	NC_000002.12:g.39013879G>A	ClinVar
SOS1	Q07889	p.Gln686Leu	rs751118433	missense variant	-	NC_000002.12:g.39013873T>A	ExAC,gnomAD
SOS1	Q07889	p.Leu690Phe	rs758056885	missense variant	-	NC_000002.12:g.39013557T>G	ExAC,gnomAD
SOS1	Q07889	p.Val697Ile	rs966388444	missense variant	-	NC_000002.12:g.39013538C>T	TOPMed,gnomAD
SOS1	Q07889	p.Val697Leu	rs966388444	missense variant	-	NC_000002.12:g.39013538C>A	TOPMed,gnomAD
SOS1	Q07889	p.His699Gln	rs765074047	missense variant	-	NC_000002.12:g.39013530G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Tyr702Cys	RCV000171288	missense variant	-	NC_000002.12:g.39013522T>C	ClinVar
SOS1	Q07889	p.Tyr702His	RCV000817385	missense variant	Rasopathy	NC_000002.12:g.39013523A>G	ClinVar
SOS1	Q07889	p.Tyr702His	RCV000159124	missense variant	-	NC_000002.12:g.39013523A>G	ClinVar
SOS1	Q07889	p.Tyr702His	rs727505381	missense variant	-	NC_000002.12:g.39013523A>G	gnomAD
SOS1	Q07889	p.Tyr702Cys	rs757094189	missense variant	-	NC_000002.12:g.39013522T>C	ExAC,gnomAD
SOS1	Q07889	p.Tyr702His	RCV000156979	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39013523A>G	ClinVar
SOS1	Q07889	p.Glu705Lys	rs730880385	missense variant	-	NC_000002.12:g.39013514C>T	-
SOS1	Q07889	p.Glu705Lys	RCV000157697	missense variant	-	NC_000002.12:g.39013514C>T	ClinVar
SOS1	Q07889	p.Ala708Thr	RCV000157013	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39013505C>T	ClinVar
SOS1	Q07889	p.Ala708Thr	RCV000272488	missense variant	-	NC_000002.12:g.39013505C>T	ClinVar
SOS1	Q07889	p.Ala708Thr	rs140811086	missense variant	-	NC_000002.12:g.39013505C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala708Thr	rs140811086	missense variant	-	NC_000002.12:g.39013505C>T	UniProt,dbSNP
SOS1	Q07889	p.Ala708Thr	VAR_066053	missense variant	-	NC_000002.12:g.39013505C>T	UniProt
SOS1	Q07889	p.Tyr709His	rs1215947792	missense variant	-	NC_000002.12:g.39013502A>G	gnomAD
SOS1	Q07889	p.Leu710Val	rs900337258	missense variant	-	NC_000002.12:g.39013499G>C	TOPMed
SOS1	Q07889	p.Leu711Ser	rs375759761	missense variant	-	NC_000002.12:g.39013495A>G	ESP
SOS1	Q07889	p.Gln712Lys	rs371894968	missense variant	-	NC_000002.12:g.39013493G>T	ESP
SOS1	Q07889	p.Arg713Gln	rs483352826	missense variant	-	NC_000002.12:g.39013489C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg713Gln	RCV000414070	missense variant	-	NC_000002.12:g.39013489C>T	ClinVar
SOS1	Q07889	p.Met714Val	rs767671260	missense variant	-	NC_000002.12:g.39013487T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile718Thr	rs1040115639	missense variant	-	NC_000002.12:g.39013474A>G	TOPMed
SOS1	Q07889	p.Gly719Ala	RCV000231034	missense variant	Rasopathy	NC_000002.12:g.39013471C>G	ClinVar
SOS1	Q07889	p.Gly719Ala	rs200794965	missense variant	-	NC_000002.12:g.39013471C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gly719Ala	RCV000159125	missense variant	-	NC_000002.12:g.39013471C>G	ClinVar
SOS1	Q07889	p.Thr720Ala	rs367634525	missense variant	-	NC_000002.12:g.39013469T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val721Leu	rs771185398	missense variant	-	NC_000002.12:g.39013466C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Val721Ile	rs771185398	missense variant	-	NC_000002.12:g.39013466C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg722Lys	RCV000552706	missense variant	Rasopathy	NC_000002.12:g.39013462C>T	ClinVar
SOS1	Q07889	p.Arg722Lys	rs142666652	missense variant	-	NC_000002.12:g.39013462C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Lys728Ile	rs397517156	missense variant	-	NC_000002.12:g.39012333T>A	-
SOS1	Q07889	p.Lys728Ile	RCV000495874	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39012333T>A	ClinVar
SOS1	Q07889	p.Trp729Leu	VAR_030439	Missense	Noonan syndrome 4 (NS4) [MIM:610733]	-	UniProt
SOS1	Q07889	p.Val730Phe	RCV000780755	missense variant	-	NC_000002.12:g.39012328C>A	ClinVar
SOS1	Q07889	p.Glu731Lys	rs1162676680	missense variant	-	NC_000002.12:g.39012325C>T	gnomAD
SOS1	Q07889	p.Ile733Leu	rs574088829	missense variant	-	NC_000002.12:g.39012319T>G	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Ile733Phe	rs574088829	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39012319T>A	UniProt,dbSNP
SOS1	Q07889	p.Ile733Phe	VAR_030440	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39012319T>A	UniProt
SOS1	Q07889	p.Ile733Phe	rs574088829	missense variant	-	NC_000002.12:g.39012319T>A	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Ile733Phe	RCV000159127	missense variant	-	NC_000002.12:g.39012319T>A	ClinVar
SOS1	Q07889	p.Thr734Pro	RCV000151923	missense variant	-	NC_000002.12:g.39012316T>G	ClinVar
SOS1	Q07889	p.Thr734Pro	rs727503437	missense variant	-	NC_000002.12:g.39012316T>G	-
SOS1	Q07889	p.Thr734Ser	rs1457312009	missense variant	-	NC_000002.12:g.39012315G>C	TOPMed
SOS1	Q07889	p.Ile736Val	rs752706487	missense variant	-	NC_000002.12:g.39012310T>C	ExAC,gnomAD
SOS1	Q07889	p.Ile736Arg	rs1553354396	missense variant	-	NC_000002.12:g.39012309A>C	-
SOS1	Q07889	p.Ile736Arg	RCV000622891	missense variant	Inborn genetic diseases	NC_000002.12:g.39012309A>C	ClinVar
SOS1	Q07889	p.Gln738His	rs1177817358	missense variant	-	NC_000002.12:g.39012302T>G	TOPMed
SOS1	Q07889	p.Ile742Thr	rs767494615	missense variant	-	NC_000002.12:g.39012291A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile742Met	rs1422160829	missense variant	-	NC_000002.12:g.39012290A>C	TOPMed
SOS1	Q07889	p.Ala743Pro	rs759584440	missense variant	-	NC_000002.12:g.39012289C>G	ExAC,gnomAD
SOS1	Q07889	p.Ala743Pro	RCV000328656	missense variant	-	NC_000002.12:g.39012289C>G	ClinVar
SOS1	Q07889	p.Asp745Asn	rs1250543199	missense variant	-	NC_000002.12:g.39012283C>T	gnomAD
SOS1	Q07889	p.Gly747Arg	rs766572354	missense variant	-	NC_000002.12:g.39012277C>T	ExAC,gnomAD
SOS1	Q07889	p.Gly747Ala	rs1264018180	missense variant	-	NC_000002.12:g.39012276C>G	gnomAD
SOS1	Q07889	p.Asn751Lys	RCV000523565	missense variant	-	NC_000002.12:g.39012263A>C	ClinVar
SOS1	Q07889	p.Asn751Lys	rs1553354376	missense variant	-	NC_000002.12:g.39012263A>C	-
SOS1	Q07889	p.Asn751Ile	rs1317993786	missense variant	-	NC_000002.12:g.39012264T>A	gnomAD
SOS1	Q07889	p.Asn751Ser	rs1317993786	missense variant	-	NC_000002.12:g.39012264T>C	gnomAD
SOS1	Q07889	p.Ile752Met	rs1226577240	missense variant	-	NC_000002.12:g.39012260A>C	gnomAD
SOS1	Q07889	p.Ile752Thr	rs1286463703	missense variant	-	NC_000002.12:g.39012261A>G	gnomAD
SOS1	Q07889	p.Phe754Leu	rs1463290793	missense variant	-	NC_000002.12:g.39012256A>G	TOPMed
SOS1	Q07889	p.Gln755Pro	rs1350115335	missense variant	-	NC_000002.12:g.39012252T>G	gnomAD
SOS1	Q07889	p.Ser756Cys	rs1169062075	missense variant	-	NC_000002.12:g.39012250T>A	TOPMed
SOS1	Q07889	p.Ser757Leu	rs1400210399	missense variant	-	NC_000002.12:g.39012246G>A	TOPMed
SOS1	Q07889	p.Thr760Ile	RCV000159128	missense variant	-	NC_000002.12:g.39012237G>A	ClinVar
SOS1	Q07889	p.Thr760Ile	rs730881027	missense variant	-	NC_000002.12:g.39012237G>A	-
SOS1	Q07889	p.Val761Ala	rs770225695	missense variant	-	NC_000002.12:g.39012234A>G	ExAC,gnomAD
SOS1	Q07889	p.Val761Gly	rs770225695	missense variant	-	NC_000002.12:g.39012234A>C	ExAC,gnomAD
SOS1	Q07889	p.Ile771Val	rs1160762647	missense variant	-	NC_000002.12:g.39012205T>C	TOPMed,gnomAD
SOS1	Q07889	p.Ile771Thr	rs557328600	missense variant	-	NC_000002.12:g.39012204A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile771Leu	rs1160762647	missense variant	-	NC_000002.12:g.39012205T>G	TOPMed,gnomAD
SOS1	Q07889	p.Ile771Arg	rs557328600	missense variant	-	NC_000002.12:g.39012204A>C	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu772Gly	rs745360437	missense variant	-	NC_000002.12:g.39012201T>C	ExAC,gnomAD
SOS1	Q07889	p.Glu772Asp	rs1176763588	missense variant	-	NC_000002.12:g.39012200C>G	gnomAD
SOS1	Q07889	p.Glu772Asp	RCV000723318	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39012200C>G	ClinVar
SOS1	Q07889	p.Ile782Val	rs778580742	missense variant	-	NC_000002.12:g.39012172T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile784Thr	rs1335137808	missense variant	-	NC_000002.12:g.39012165A>G	TOPMed
SOS1	Q07889	p.Leu790Ser	rs139859866	missense variant	-	NC_000002.12:g.39012147A>G	ESP,TOPMed,gnomAD
SOS1	Q07889	p.Leu791Ile	rs142004123	missense variant	-	NC_000002.12:g.39012145G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu791Ile	RCV000233902	missense variant	Rasopathy	NC_000002.12:g.39012145G>T	ClinVar
SOS1	Q07889	p.Leu791Ile	RCV000680310	missense variant	-	NC_000002.12:g.39012145G>T	ClinVar
SOS1	Q07889	p.Asp794Tyr	rs777387313	missense variant	-	NC_000002.12:g.39012136C>A	ExAC,gnomAD
SOS1	Q07889	p.Asp794Glu	rs1317203797	missense variant	-	NC_000002.12:g.39012134A>T	TOPMed
SOS1	Q07889	p.Ser802Pro	rs1175809874	missense variant	-	NC_000002.12:g.39010690A>G	gnomAD
SOS1	Q07889	p.Glu812Asp	rs773960091	missense variant	-	NC_000002.12:g.39010658T>G	ExAC,gnomAD
SOS1	Q07889	p.Asn830Ser	RCV000556321	missense variant	Rasopathy	NC_000002.12:g.39010605T>C	ClinVar
SOS1	Q07889	p.Asn830Ile	RCV000038534	missense variant	-	NC_000002.12:g.39010605T>A	ClinVar
SOS1	Q07889	p.Asn830Ile	rs397517158	missense variant	-	NC_000002.12:g.39010605T>A	ExAC,gnomAD
SOS1	Q07889	p.Asn830Ser	RCV000781876	missense variant	-	NC_000002.12:g.39010605T>C	ClinVar
SOS1	Q07889	p.Asn830Lys	rs730881029	missense variant	-	NC_000002.12:g.39010604G>C	-
SOS1	Q07889	p.Asn830Ser	rs397517158	missense variant	-	NC_000002.12:g.39010605T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn830Ser	RCV000159131	missense variant	-	NC_000002.12:g.39010605T>C	ClinVar
SOS1	Q07889	p.Asn830Lys	RCV000159132	missense variant	-	NC_000002.12:g.39010604G>C	ClinVar
SOS1	Q07889	p.Cys838Tyr	rs747801798	missense variant	-	NC_000002.12:g.39007191C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile839Val	rs1341382516	missense variant	-	NC_000002.12:g.39007189T>C	gnomAD
SOS1	Q07889	p.Glu841Asp	rs1246892881	missense variant	-	NC_000002.12:g.39007181T>A	gnomAD
SOS1	Q07889	p.Asn844His	rs768457896	missense variant	-	NC_000002.12:g.39007174T>G	ExAC,gnomAD
SOS1	Q07889	p.Glu846Lys	RCV000038535	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39007168C>T	ClinVar
SOS1	Q07889	p.Glu846Lys	rs397517159	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39007168C>T	UniProt,dbSNP
SOS1	Q07889	p.Glu846Lys	VAR_030441	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39007168C>T	UniProt
SOS1	Q07889	p.Glu846Lys	rs397517159	missense variant	-	NC_000002.12:g.39007168C>T	-
SOS1	Q07889	p.Glu846Lys	RCV000471633	missense variant	Rasopathy	NC_000002.12:g.39007168C>T	ClinVar
SOS1	Q07889	p.Glu846Lys	RCV000207492	missense variant	-	NC_000002.12:g.39007168C>T	ClinVar
SOS1	Q07889	p.Glu846Lys	RCV000763085	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.39007168C>T	ClinVar
SOS1	Q07889	p.Val849Ile	rs957752399	missense variant	-	NC_000002.12:g.39007159C>T	TOPMed,gnomAD
SOS1	Q07889	p.Val851Leu	rs1306577224	missense variant	-	NC_000002.12:g.39007153C>G	gnomAD
SOS1	Q07889	p.Val852Leu	rs1429582356	missense variant	-	NC_000002.12:g.39007150C>A	gnomAD
SOS1	Q07889	p.Arg854Gln	rs771968591	missense variant	-	NC_000002.12:g.39007143C>T	ExAC,gnomAD
SOS1	Q07889	p.Ile856Thr	rs778865680	missense variant	-	NC_000002.12:g.39007137A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu857Asp	rs757460662	missense variant	-	NC_000002.12:g.39007133C>G	ExAC,gnomAD
SOS1	Q07889	p.Ile858Val	rs1182574388	missense variant	-	NC_000002.12:g.39007132T>C	gnomAD
SOS1	Q07889	p.Ile858Thr	rs1221615450	missense variant	-	NC_000002.12:g.39007131A>G	TOPMed
SOS1	Q07889	p.Gln863Lys	rs141501083	missense variant	-	NC_000002.12:g.39007117G>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Glu864Gln	rs778194173	missense variant	-	NC_000002.12:g.39007114C>G	ExAC,gnomAD
SOS1	Q07889	p.Glu864Asp	rs1482643958	missense variant	-	NC_000002.12:g.39007112C>A	TOPMed,gnomAD
SOS1	Q07889	p.Asn869Ser	rs730881030	missense variant	-	NC_000002.12:g.39007098T>C	TOPMed
SOS1	Q07889	p.Asn869Ser	RCV000590000	missense variant	-	NC_000002.12:g.39007098T>C	ClinVar
SOS1	Q07889	p.Val871Ile	rs1354107467	missense variant	-	NC_000002.12:g.39007093C>T	gnomAD
SOS1	Q07889	p.Glu873Ter	RCV000591885	frameshift	-	NC_000002.12:g.39007089del	ClinVar
SOS1	Q07889	p.Val875Ile	rs749878971	missense variant	-	NC_000002.12:g.39007081C>T	ExAC,gnomAD
SOS1	Q07889	p.Val883Ile	rs1346595326	missense variant	-	NC_000002.12:g.39007057C>T	gnomAD
SOS1	Q07889	p.His888Tyr	rs761401536	missense variant	-	NC_000002.12:g.39007042G>A	ExAC,gnomAD
SOS1	Q07889	p.Phe890Leu	rs768337141	missense variant	-	NC_000002.12:g.39007034A>T	ExAC,gnomAD
SOS1	Q07889	p.Glu891Lys	rs1553353452	missense variant	-	NC_000002.12:g.39007033C>T	-
SOS1	Q07889	p.Glu891Gly	rs760457239	missense variant	-	NC_000002.12:g.39007032T>C	ExAC,gnomAD
SOS1	Q07889	p.Glu891Lys	RCV000612075	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39007033C>T	ClinVar
SOS1	Q07889	p.Pro894Arg	RCV000680809	missense variant	-	NC_000002.12:g.39006522G>C	ClinVar
SOS1	Q07889	p.Pro894Arg	rs1367714753	missense variant	-	NC_000002.12:g.39006522G>C	TOPMed
SOS1	Q07889	p.Pro894Arg	rs1367714753	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39006522G>C	UniProt,dbSNP
SOS1	Q07889	p.Pro894Arg	VAR_066055	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.39006522G>C	UniProt
SOS1	Q07889	p.Ser895Asn	rs1164976822	missense variant	-	NC_000002.12:g.39006519C>T	TOPMed
SOS1	Q07889	p.Ser895Arg	rs1458299436	missense variant	-	NC_000002.12:g.39006520T>G	TOPMed
SOS1	Q07889	p.Glu909Gly	rs770071107	missense variant	-	NC_000002.12:g.39006477T>C	ExAC,gnomAD
SOS1	Q07889	p.Asp910His	RCV000587071	missense variant	-	NC_000002.12:g.39006475C>G	ClinVar
SOS1	Q07889	p.Asp910His	rs369277679	missense variant	-	NC_000002.12:g.39006475C>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Lys913Arg	rs755271549	missense variant	-	NC_000002.12:g.39006465T>C	ExAC,gnomAD
SOS1	Q07889	p.Ser921Cys	RCV000598389	missense variant	-	NC_000002.12:g.39006441G>C	ClinVar
SOS1	Q07889	p.Ser921Cys	rs1553353332	missense variant	-	NC_000002.12:g.39006441G>C	-
SOS1	Q07889	p.Ile922Val	rs780420674	missense variant	-	NC_000002.12:g.39006439T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro924Leu	rs1363593816	missense variant	-	NC_000002.12:g.39006432G>A	gnomAD
SOS1	Q07889	p.Val927Met	rs1296970890	missense variant	-	NC_000002.12:g.39006424C>T	gnomAD
SOS1	Q07889	p.Phe930Ser	rs886056024	missense variant	-	NC_000002.12:g.39006414A>G	-
SOS1	Q07889	p.Phe930Ile	RCV000781877	missense variant	-	NC_000002.12:g.39006415A>T	ClinVar
SOS1	Q07889	p.Phe930Ser	RCV000370733	missense variant	Noonan syndrome (NS)	NC_000002.12:g.39006414A>G	ClinVar
SOS1	Q07889	p.Phe930Ser	RCV000313293	missense variant	-	NC_000002.12:g.39006414A>G	ClinVar
SOS1	Q07889	p.Tyr933Cys	rs748306758	missense variant	-	NC_000002.12:g.38997419T>C	ExAC,gnomAD
SOS1	Q07889	p.Asn936Ser	rs776683613	missense variant	-	NC_000002.12:g.38997410T>C	ExAC,gnomAD
SOS1	Q07889	p.Leu938Val	rs566328117	missense variant	-	NC_000002.12:g.38997405A>C	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Leu938Ser	rs1351272513	missense variant	-	NC_000002.12:g.38997404A>G	gnomAD
SOS1	Q07889	p.Lys939Ter	rs1308429073	stop gained	-	NC_000002.12:g.38997402T>A	gnomAD
SOS1	Q07889	p.Glu946Gln	RCV000732278	missense variant	-	NC_000002.12:g.38997381C>G	ClinVar
SOS1	Q07889	p.His951Gln	rs747320483	missense variant	-	NC_000002.12:g.38997364A>T	ExAC,gnomAD
SOS1	Q07889	p.Glu954Asp	rs1169700752	missense variant	-	NC_000002.12:g.38997355C>G	gnomAD
SOS1	Q07889	p.Glu954Lys	rs780409557	missense variant	-	NC_000002.12:g.38997357C>T	ExAC,gnomAD
SOS1	Q07889	p.Ser959Gly	rs746396499	missense variant	-	NC_000002.12:g.38997342T>C	ExAC,gnomAD
SOS1	Q07889	p.Arg962Ser	rs779447717	missense variant	-	NC_000002.12:g.38997331C>G	ExAC
SOS1	Q07889	p.Arg962Lys	rs1472263395	missense variant	-	NC_000002.12:g.38997332C>T	gnomAD
SOS1	Q07889	p.Lys963Arg	rs755549795	missense variant	-	NC_000002.12:g.38997329T>C	ExAC
SOS1	Q07889	p.Gln973Leu	rs727505016	missense variant	-	NC_000002.12:g.38997299T>A	-
SOS1	Q07889	p.Gln973Leu	RCV000156440	missense variant	-	NC_000002.12:g.38997299T>A	ClinVar
SOS1	Q07889	p.Gln977Arg	VAR_030442	Missense	-	-	UniProt
SOS1	Q07889	p.Arg982Gln	RCV000588458	missense variant	-	NC_000002.12:g.38997272C>T	ClinVar
SOS1	Q07889	p.Arg982Gln	rs1553351453	missense variant	-	NC_000002.12:g.38997272C>T	-
SOS1	Q07889	p.Ser985Ala	rs754676663	missense variant	-	NC_000002.12:g.38997264A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp986Asn	rs1204444296	missense variant	-	NC_000002.12:g.38997261C>T	TOPMed
SOS1	Q07889	p.Lys988Arg	rs751249845	missense variant	-	NC_000002.12:g.38997254T>C	ExAC,gnomAD
SOS1	Q07889	p.Arg989Lys	RCV000654932	missense variant	Rasopathy	NC_000002.12:g.38997037C>T	ClinVar
SOS1	Q07889	p.Arg989Thr	rs202043599	missense variant	-	NC_000002.12:g.38997037C>G	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg989Lys	rs202043599	missense variant	-	NC_000002.12:g.38997037C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Phe991Leu	rs751274973	missense variant	-	NC_000002.12:g.38997030A>C	ExAC,gnomAD
SOS1	Q07889	p.Asn993Lys	rs779896678	missense variant	-	NC_000002.12:g.38997024G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro996Leu	rs200747626	missense variant	-	NC_000002.12:g.38997016G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met997Thr	rs1321926273	missense variant	-	NC_000002.12:g.38997013A>G	gnomAD
SOS1	Q07889	p.Asn999Ser	rs765070830	missense variant	-	NC_000002.12:g.38997007T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1000Asn	rs891035934	missense variant	-	NC_000002.12:g.38997004C>T	TOPMed
SOS1	Q07889	p.Ser1000Gly	rs730881031	missense variant	-	NC_000002.12:g.38997005T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1000Asn	RCV000615183	missense variant	-	NC_000002.12:g.38997004C>T	ClinVar
SOS1	Q07889	p.Ser1000Cys	RCV000159135	missense variant	-	NC_000002.12:g.38997005T>A	ClinVar
SOS1	Q07889	p.Ser1000Cys	rs730881031	missense variant	-	NC_000002.12:g.38997005T>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met1001Val	rs1051002841	missense variant	-	NC_000002.12:g.38997002T>C	TOPMed,gnomAD
SOS1	Q07889	p.Lys1003Ter	rs760717289	stop gained	-	NC_000002.12:g.38996996T>A	ExAC,gnomAD
SOS1	Q07889	p.Lys1003Thr	rs1462821963	missense variant	-	NC_000002.12:g.38996995T>G	TOPMed,gnomAD
SOS1	Q07889	p.Thr1006Ile	rs1193609722	missense variant	-	NC_000002.12:g.38996986G>A	gnomAD
SOS1	Q07889	p.Tyr1008His	rs397517163	missense variant	-	NC_000002.12:g.38996981A>G	-
SOS1	Q07889	p.Tyr1008His	RCV000038544	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38996981A>G	ClinVar
SOS1	Q07889	p.Asn1011Ser	rs8192671	missense variant	-	NC_000002.12:g.38996971T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn1011Ser	rs8192671	missense variant	-	NC_000002.12:g.38996971T>C	UniProt,dbSNP
SOS1	Q07889	p.Asn1011Ser	VAR_066056	missense variant	-	NC_000002.12:g.38996971T>C	UniProt
SOS1	Q07889	p.Asn1011Ser	RCV000156997	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38996971T>C	ClinVar
SOS1	Q07889	p.Glu1015Lys	rs772348571	missense variant	-	NC_000002.12:g.38996960C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn1020Ser	rs1464623941	missense variant	-	NC_000002.12:g.38996944T>C	gnomAD
SOS1	Q07889	p.Asn1020His	rs759883355	missense variant	-	NC_000002.12:g.38996945T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1021Leu	rs771279973	missense variant	-	NC_000002.12:g.38996941G>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1026Lys	rs730881032	missense variant	-	NC_000002.12:g.38996926C>T	ExAC,gnomAD
SOS1	Q07889	p.Arg1026Lys	RCV000159136	missense variant	-	NC_000002.12:g.38996926C>T	ClinVar
SOS1	Q07889	p.Phe1027Leu	RCV000658013	missense variant	-	NC_000002.12:g.38996922A>T	ClinVar
SOS1	Q07889	p.Phe1027Leu	rs1553351362	missense variant	-	NC_000002.12:g.38996922A>T	-
SOS1	Q07889	p.Tyr1033Cys	rs1483311338	missense variant	-	NC_000002.12:g.38995371T>C	TOPMed
SOS1	Q07889	p.Pro1034Thr	rs1167317994	missense variant	-	NC_000002.12:g.38995369G>T	gnomAD
SOS1	Q07889	p.Pro1034Ser	rs1167317994	missense variant	-	NC_000002.12:g.38995369G>A	gnomAD
SOS1	Q07889	p.Leu1035Ile	rs757046948	missense variant	-	NC_000002.12:g.38995366G>T	ExAC,gnomAD
SOS1	Q07889	p.Arg1041His	rs1027223518	missense variant	-	NC_000002.12:g.38995347C>T	TOPMed
SOS1	Q07889	p.Pro1042Gln	rs1166919012	missense variant	-	NC_000002.12:g.38995344G>T	gnomAD
SOS1	Q07889	p.Arg1046Ile	rs1183152828	missense variant	-	NC_000002.12:g.38995332C>A	gnomAD
SOS1	Q07889	p.Gly1048Arg	rs1483281162	missense variant	-	NC_000002.12:g.38995327C>G	gnomAD
SOS1	Q07889	p.Met1050Val	RCV000397079	missense variant	-	NC_000002.12:g.38995321T>C	ClinVar
SOS1	Q07889	p.Met1050Ile	rs1194032302	missense variant	-	NC_000002.12:g.38995319C>T	gnomAD
SOS1	Q07889	p.Met1050Val	rs886041814	missense variant	-	NC_000002.12:g.38995321T>C	TOPMed,gnomAD
SOS1	Q07889	p.Arg1051Thr	rs1338626165	missense variant	-	NC_000002.12:g.38995317C>G	gnomAD
SOS1	Q07889	p.Pro1055Thr	rs1246281893	missense variant	-	NC_000002.12:g.38995306G>T	gnomAD
SOS1	Q07889	p.Glu1059Gly	rs767619216	missense variant	-	NC_000002.12:g.38995293T>C	ExAC,gnomAD
SOS1	Q07889	p.Ser1066Thr	RCV000681093	missense variant	-	NC_000002.12:g.38995272C>G	ClinVar
SOS1	Q07889	p.Ser1066Thr	rs1428068201	missense variant	-	NC_000002.12:g.38995272C>G	TOPMed
SOS1	Q07889	p.Ser1066Arg	rs886041475	missense variant	-	NC_000002.12:g.38995271A>C	-
SOS1	Q07889	p.Ser1066Gly	rs766546302	missense variant	-	NC_000002.12:g.38995273T>C	ExAC,gnomAD
SOS1	Q07889	p.Ser1066Arg	RCV000380919	missense variant	-	NC_000002.12:g.38995271A>C	ClinVar
SOS1	Q07889	p.Ile1068Met	rs1306515352	missense variant	-	NC_000002.12:g.38995265G>C	gnomAD
SOS1	Q07889	p.Glu1072Ala	rs142342797	missense variant	-	NC_000002.12:g.38995254T>G	ESP,ExAC,gnomAD
SOS1	Q07889	p.Thr1073Lys	rs1391324757	missense variant	-	NC_000002.12:g.38995251G>T	gnomAD
SOS1	Q07889	p.Glu1074Gly	rs773504580	missense variant	-	NC_000002.12:g.38995248T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr1076Lys	rs762412881	missense variant	-	NC_000002.12:g.38995242G>T	ExAC,gnomAD
SOS1	Q07889	p.Ala1077Thr	rs775100470	missense variant	-	NC_000002.12:g.38995240C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala1079Val	RCV000159137	missense variant	-	NC_000002.12:g.38995233G>A	ClinVar
SOS1	Q07889	p.Ala1079Val	rs730881033	missense variant	-	NC_000002.12:g.38995233G>A	-
SOS1	Q07889	p.Pro1080Ser	rs771728760	missense variant	-	NC_000002.12:g.38995231G>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1084Gly	rs1413950512	missense variant	-	NC_000002.12:g.38995219T>C	gnomAD
SOS1	Q07889	p.Arg1084Ter	RCV000013728	frameshift	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.38995222dup	ClinVar
SOS1	Q07889	p.Thr1085Lys	rs745411722	missense variant	-	NC_000002.12:g.38995215G>T	ExAC,gnomAD
SOS1	Q07889	p.Thr1085Ser	rs1332816469	missense variant	-	NC_000002.12:g.38995216T>A	TOPMed
SOS1	Q07889	p.Pro1086Leu	rs730881028	missense variant	-	NC_000002.12:g.38995212G>A	ExAC,gnomAD
SOS1	Q07889	p.Pro1086Ala	rs1057517892	missense variant	-	NC_000002.12:g.38995213G>C	-
SOS1	Q07889	p.Pro1086Ala	RCV000414591	missense variant	-	NC_000002.12:g.38995213G>C	ClinVar
SOS1	Q07889	p.Pro1086Leu	RCV000159130	missense variant	-	NC_000002.12:g.38995212G>A	ClinVar
SOS1	Q07889	p.Leu1087Ter	RCV000703261	frameshift	Rasopathy	NC_000002.12:g.38995210dup	ClinVar
SOS1	Q07889	p.Pro1089Ser	rs749055121	missense variant	-	NC_000002.12:g.38995204G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1090Leu	RCV000590324	missense variant	-	NC_000002.12:g.38995200G>A	ClinVar
SOS1	Q07889	p.Pro1090Ala	rs1271964438	missense variant	-	NC_000002.12:g.38995201G>C	gnomAD
SOS1	Q07889	p.Pro1090Thr	rs1271964438	missense variant	-	NC_000002.12:g.38995201G>T	gnomAD
SOS1	Q07889	p.Pro1090Leu	rs730881034	missense variant	-	NC_000002.12:g.38995200G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1091Ser	rs756008569	missense variant	-	NC_000002.12:g.38995198G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1091Ter	RCV000414163	frameshift	-	NC_000002.12:g.38995201dup	ClinVar
SOS1	Q07889	p.Pro1091Thr	rs756008569	missense variant	-	NC_000002.12:g.38995198G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1091Ala	rs756008569	missense variant	-	NC_000002.12:g.38995198G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala1092Thr	rs373948887	missense variant	-	NC_000002.12:g.38995195C>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gly1094Asp	rs1238854663	missense variant	-	NC_000002.12:g.38995188C>T	gnomAD
SOS1	Q07889	p.Ala1095Asp	rs755015356	missense variant	-	NC_000002.12:g.38995185G>T	ExAC,gnomAD
SOS1	Q07889	p.Ser1096Thr	RCV000780744	missense variant	-	NC_000002.12:g.38995183A>T	ClinVar
SOS1	Q07889	p.Ser1096Thr	RCV000761177	missense variant	B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21	NC_000002.12:g.38995183A>T	ClinVar
SOS1	Q07889	p.Ser1096Thr	RCV000547835	missense variant	Rasopathy	NC_000002.12:g.38995183A>T	ClinVar
SOS1	Q07889	p.Ser1096Thr	rs376722127	missense variant	-	NC_000002.12:g.38995183A>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1097Thr	RCV000156973	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38995179C>G	ClinVar
SOS1	Q07889	p.Ser1097Thr	RCV000159180	missense variant	-	NC_000002.12:g.38995179C>G	ClinVar
SOS1	Q07889	p.Ser1097Asn	rs727505379	missense variant	-	NC_000002.12:g.38995179C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1097Arg	rs758560516	missense variant	-	NC_000002.12:g.38995178A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1097Asn	RCV000413425	missense variant	-	NC_000002.12:g.38995179C>T	ClinVar
SOS1	Q07889	p.Ser1097Thr	rs727505379	missense variant	-	NC_000002.12:g.38995179C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr1099Ala	rs750731426	missense variant	-	NC_000002.12:g.38995174T>C	ExAC,gnomAD
SOS1	Q07889	p.Val1101Ile	rs1386657291	missense variant	-	NC_000002.12:g.38995168C>T	gnomAD
SOS1	Q07889	p.Ser1103Gly	rs1210824639	missense variant	-	NC_000002.12:g.38995162T>C	TOPMed
SOS1	Q07889	p.Asp1106Gly	rs1406906239	missense variant	-	NC_000002.12:g.38995152T>C	TOPMed,gnomAD
SOS1	Q07889	p.Ser1107Cys	rs1469499065	missense variant	-	NC_000002.12:g.38995149G>C	TOPMed,gnomAD
SOS1	Q07889	p.Ser1107Ala	rs964159537	missense variant	-	NC_000002.12:g.38995150A>C	TOPMed,gnomAD
SOS1	Q07889	p.Asp1108Asn	RCV000234075	missense variant	Rasopathy	NC_000002.12:g.38995147C>T	ClinVar
SOS1	Q07889	p.Asp1108Asn	rs199856844	missense variant	-	NC_000002.12:g.38995147C>T	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1108Asn	RCV000333119	missense variant	-	NC_000002.12:g.38995147C>T	ClinVar
SOS1	Q07889	p.Asp1108Asn	RCV000825457	missense variant	-	NC_000002.12:g.38995147C>T	ClinVar
SOS1	Q07889	p.Asp1108His	RCV000587413	missense variant	-	NC_000002.12:g.38995147C>G	ClinVar
SOS1	Q07889	p.Asp1108His	rs199856844	missense variant	-	NC_000002.12:g.38995147C>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.His1109Tyr	rs1452455488	missense variant	-	NC_000002.12:g.38995144G>A	gnomAD
SOS1	Q07889	p.Ser1110Leu	rs572955351	missense variant	-	NC_000002.12:g.38995140G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1110Trp	rs572955351	missense variant	-	NC_000002.12:g.38995140G>C	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1110Trp	RCV000159139	missense variant	-	NC_000002.12:g.38995140G>C	ClinVar
SOS1	Q07889	p.Ser1110Leu	RCV000413089	missense variant	-	NC_000002.12:g.38995140G>A	ClinVar
SOS1	Q07889	p.Pro1112Ser	rs999553936	missense variant	-	NC_000002.12:g.38995135G>A	TOPMed,gnomAD
SOS1	Q07889	p.Pro1112Ala	rs999553936	missense variant	-	NC_000002.12:g.38995135G>C	TOPMed,gnomAD
SOS1	Q07889	p.His1114Asp	rs1365639175	missense variant	-	NC_000002.12:g.38995129G>C	TOPMed
SOS1	Q07889	p.Ser1116Gly	rs1281786941	missense variant	-	NC_000002.12:g.38995123T>C	gnomAD
SOS1	Q07889	p.Asn1117Ser	rs754314057	missense variant	-	NC_000002.12:g.38989311T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asn1117Ser	RCV000363574	missense variant	-	NC_000002.12:g.38989311T>C	ClinVar
SOS1	Q07889	p.Asp1118Tyr	rs1276062555	missense variant	-	NC_000002.12:g.38989309C>A	TOPMed,gnomAD
SOS1	Q07889	p.Thr1119Ala	rs764640296	missense variant	-	NC_000002.12:g.38989306T>C	ExAC,gnomAD
SOS1	Q07889	p.Val1120Ile	rs368767111	missense variant	-	NC_000002.12:g.38989303C>T	ESP,TOPMed
SOS1	Q07889	p.Ile1122Met	rs765832489	missense variant	-	NC_000002.12:g.38989295G>C	ExAC,gnomAD
SOS1	Q07889	p.Val1124Ile	rs1342428273	missense variant	-	NC_000002.12:g.38989291C>T	gnomAD
SOS1	Q07889	p.Pro1127Ser	rs1373636855	missense variant	-	NC_000002.12:g.38989282G>A	TOPMed
SOS1	Q07889	p.His1128Arg	rs1434181930	missense variant	-	NC_000002.12:g.38989278T>C	TOPMed
SOS1	Q07889	p.His1128Tyr	rs762576997	missense variant	-	NC_000002.12:g.38989279G>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1131Gly	rs376917176	missense variant	-	NC_000002.12:g.38989270T>C	ESP,ExAC,gnomAD
SOS1	Q07889	p.Arg1131Lys	rs768113420	missense variant	-	NC_000002.12:g.38987591C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg1131Lys	rs768113420	missense variant	-	NC_000002.12:g.38987591C>T	UniProt,dbSNP
SOS1	Q07889	p.Arg1131Lys	VAR_066057	missense variant	-	NC_000002.12:g.38987591C>T	UniProt
SOS1	Q07889	p.Ala1133Pro	rs1162412781	missense variant	-	NC_000002.12:g.38987586C>G	gnomAD
SOS1	Q07889	p.Ala1133Val	rs757838494	missense variant	-	NC_000002.12:g.38987585G>A	ExAC,gnomAD
SOS1	Q07889	p.Ser1134Phe	rs749989638	missense variant	-	NC_000002.12:g.38987582G>A	ExAC,gnomAD
SOS1	Q07889	p.Val1135Ile	rs1486583060	missense variant	-	NC_000002.12:g.38987580C>T	TOPMed
SOS1	Q07889	p.Ser1137Pro	rs147996068	missense variant	-	NC_000002.12:g.38987574A>G	ESP,gnomAD
SOS1	Q07889	p.Ile1138Lys	rs1433351757	missense variant	-	NC_000002.12:g.38987570A>T	TOPMed
SOS1	Q07889	p.Ile1138Val	rs56248239	missense variant	-	NC_000002.12:g.38987571T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1138Leu	rs56248239	missense variant	-	NC_000002.12:g.38987571T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1138Val	RCV000587119	missense variant	-	NC_000002.12:g.38987571T>C	ClinVar
SOS1	Q07889	p.Ile1138Val	RCV000722119	missense variant	-	NC_000002.12:g.38987571T>C	ClinVar
SOS1	Q07889	p.Ile1138Val	RCV000697593	missense variant	Rasopathy	NC_000002.12:g.38987571T>C	ClinVar
SOS1	Q07889	p.Ser1139Arg	rs1201321342	missense variant	-	NC_000002.12:g.38987566A>C	TOPMed
SOS1	Q07889	p.Leu1140Ile	RCV000592644	missense variant	-	NC_000002.12:g.38987565A>T	ClinVar
SOS1	Q07889	p.Leu1140Ile	rs375550588	missense variant	-	NC_000002.12:g.38987565A>T	UniProt,dbSNP
SOS1	Q07889	p.Leu1140Ile	VAR_066058	missense variant	-	NC_000002.12:g.38987565A>T	UniProt
SOS1	Q07889	p.Leu1140Ile	rs375550588	missense variant	-	NC_000002.12:g.38987565A>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu1140Ile	RCV000463473	missense variant	Rasopathy	NC_000002.12:g.38987565A>T	ClinVar
SOS1	Q07889	p.Leu1140Ile	RCV000577966	missense variant	Noonan syndrome 4 (NS4)	NC_000002.12:g.38987565A>T	ClinVar
SOS1	Q07889	p.Thr1144Ile	rs775259671	missense variant	-	NC_000002.12:g.38987552G>A	ExAC,gnomAD
SOS1	Q07889	p.Thr1144Ser	rs775259671	missense variant	-	NC_000002.12:g.38987552G>C	ExAC,gnomAD
SOS1	Q07889	p.Thr1144Pro	rs1232927548	missense variant	-	NC_000002.12:g.38987553T>G	gnomAD
SOS1	Q07889	p.Asp1145Asn	RCV000156982	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38987550C>T	ClinVar
SOS1	Q07889	p.Asp1145Asn	rs727505383	missense variant	-	NC_000002.12:g.38987550C>T	gnomAD
SOS1	Q07889	p.Val1147Ala	RCV000706044	missense variant	Rasopathy	NC_000002.12:g.38987543A>G	ClinVar
SOS1	Q07889	p.Pro1148Ser	rs138966939	missense variant	-	NC_000002.12:g.38987541G>A	ESP,ExAC,gnomAD
SOS1	Q07889	p.Val1149Ile	rs201539241	missense variant	-	NC_000002.12:g.38987538C>T	1000Genomes,ExAC,gnomAD
SOS1	Q07889	p.Arg1157Thr	rs774579234	missense variant	-	NC_000002.12:g.38987513C>G	ExAC,gnomAD
SOS1	Q07889	p.Arg1158Ter	rs1396062382	stop gained	-	NC_000002.12:g.38987511G>A	gnomAD
SOS1	Q07889	p.Ala1162Val	rs1022820895	missense variant	-	NC_000002.12:g.38987498G>A	gnomAD
SOS1	Q07889	p.Pro1163Leu	rs771240089	missense variant	-	NC_000002.12:g.38987495G>A	ExAC
SOS1	Q07889	p.Pro1163Ser	rs1388677294	missense variant	-	NC_000002.12:g.38987496G>A	TOPMed
SOS1	Q07889	p.Ala1164Thr	rs749546068	missense variant	-	NC_000002.12:g.38987493C>T	ExAC,gnomAD
SOS1	Q07889	p.Ala1164Val	rs1388995840	missense variant	-	NC_000002.12:g.38987492G>A	gnomAD
SOS1	Q07889	p.Ser1167Leu	rs778109739	missense variant	-	NC_000002.12:g.38987483G>A	ExAC,gnomAD
SOS1	Q07889	p.Pro1168Ala	rs756406841	missense variant	-	NC_000002.12:g.38987481G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1171Asn	rs767291758	missense variant	-	NC_000002.12:g.38986314A>T	ExAC,gnomAD
SOS1	Q07889	p.Met1172Thr	rs537874171	missense variant	-	NC_000002.12:g.38986311A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Lys1174Gln	rs774526240	missense variant	-	NC_000002.12:g.38986306T>G	ExAC,gnomAD
SOS1	Q07889	p.His1175Pro	rs730881035	missense variant	-	NC_000002.12:g.38986302T>G	TOPMed,gnomAD
SOS1	Q07889	p.His1175Pro	RCV000589150	missense variant	-	NC_000002.12:g.38986302T>G	ClinVar
SOS1	Q07889	p.Leu1176Met	rs771115389	missense variant	-	NC_000002.12:g.38986300A>T	ExAC
SOS1	Q07889	p.Asp1177Glu	RCV000159181	missense variant	-	NC_000002.12:g.38986295G>T	ClinVar
SOS1	Q07889	p.Asp1177Glu	rs730881049	missense variant	-	NC_000002.12:g.38986295G>T	ExAC,gnomAD
SOS1	Q07889	p.Ser1178Gly	rs773306505	missense variant	-	NC_000002.12:g.38986294T>C	ExAC,gnomAD
SOS1	Q07889	p.Ser1178Thr	rs1050237569	missense variant	-	NC_000002.12:g.38986293C>G	TOPMed
SOS1	Q07889	p.Ser1178Gly	RCV000519026	missense variant	-	NC_000002.12:g.38986294T>C	ClinVar
SOS1	Q07889	p.Ser1178Arg	rs773306505	missense variant	-	NC_000002.12:g.38986294T>G	ExAC,gnomAD
SOS1	Q07889	p.Pro1179Ser	rs770107427	missense variant	-	NC_000002.12:g.38986291G>A	ExAC
SOS1	Q07889	p.Ala1181Val	rs1392534339	missense variant	-	NC_000002.12:g.38986284G>A	TOPMed
SOS1	Q07889	p.Arg1185Lys	rs1349777222	missense variant	-	NC_000002.12:g.38986272C>T	gnomAD
SOS1	Q07889	p.Lys1190Glu	rs1553349579	missense variant	-	NC_000002.12:g.38986258T>C	-
SOS1	Q07889	p.Lys1190Glu	RCV000597747	missense variant	-	NC_000002.12:g.38986258T>C	ClinVar
SOS1	Q07889	p.Pro1194Ser	rs781621330	missense variant	-	NC_000002.12:g.38986246G>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1195Leu	rs368708238	missense variant	-	NC_000002.12:g.38986242C>A	ESP,ExAC,gnomAD
SOS1	Q07889	p.Arg1195Ter	rs914957553	stop gained	-	NC_000002.12:g.38986243G>A	gnomAD
SOS1	Q07889	p.Ile1198Val	rs747534810	missense variant	-	NC_000002.12:g.38986234T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1199Pro	rs112353205	missense variant	-	NC_000002.12:g.38986231A>G	ExAC,gnomAD
SOS1	Q07889	p.Asp1200Glu	RCV000038553	missense variant	-	NC_000002.12:g.38986226G>T	ClinVar
SOS1	Q07889	p.Asp1200Asn	rs756728233	missense variant	-	NC_000002.12:g.38986228C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1200Glu	rs141594736	missense variant	-	NC_000002.12:g.38986226G>T	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1200Ala	rs753412784	missense variant	-	NC_000002.12:g.38986227T>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1200Glu	rs141594736	missense variant	-	NC_000002.12:g.38986226G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Asp1200Glu	RCV000459983	missense variant	Rasopathy	NC_000002.12:g.38986226G>C	ClinVar
SOS1	Q07889	p.Arg1201Trp	rs752395541	missense variant	-	NC_000002.12:g.38986225G>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1201Gln	rs1422169849	missense variant	-	NC_000002.12:g.38986224C>T	TOPMed
SOS1	Q07889	p.Ser1203Cys	rs145705430	missense variant	-	NC_000002.12:g.38986218G>C	ESP,ExAC,TOPMed
SOS1	Q07889	p.Ser1203Ala	rs558665788	missense variant	-	NC_000002.12:g.38986219A>C	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1203Thr	rs558665788	missense variant	-	NC_000002.12:g.38986219A>T	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1204Val	rs374497013	missense variant	-	NC_000002.12:g.38986216T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1205Leu	rs1257208031	missense variant	-	NC_000002.12:g.38986212G>A	gnomAD
SOS1	Q07889	p.Ser1205Ter	rs1257208031	stop gained	-	NC_000002.12:g.38986212G>C	gnomAD
SOS1	Q07889	p.Asp1206Glu	rs766488137	missense variant	-	NC_000002.12:g.38986208G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro1207Arg	RCV000159117	missense variant	-	NC_000002.12:g.38986206G>C	ClinVar
SOS1	Q07889	p.Pro1207Arg	rs730881025	missense variant	-	NC_000002.12:g.38986206G>C	-
SOS1	Q07889	p.Pro1208Ser	rs1486557873	missense variant	-	NC_000002.12:g.38986204G>A	gnomAD
SOS1	Q07889	p.Pro1215Leu	rs730881050	missense variant	-	NC_000002.12:g.38986182G>A	TOPMed
SOS1	Q07889	p.Pro1216Ala	rs762129481	missense variant	-	NC_000002.12:g.38986180G>C	ExAC,gnomAD
SOS1	Q07889	p.Arg1217Ter	rs914233131	stop gained	-	NC_000002.12:g.38986177G>A	TOPMed
SOS1	Q07889	p.Arg1217Ter	RCV000489742	nonsense	-	NC_000002.12:g.38986177G>A	ClinVar
SOS1	Q07889	p.Val1220Leu	RCV000586270	missense variant	-	NC_000002.12:g.38986168C>A	ClinVar
SOS1	Q07889	p.Val1220Leu	rs776814547	missense variant	-	NC_000002.12:g.38986168C>A	ExAC,gnomAD
SOS1	Q07889	p.Val1220Met	rs776814547	missense variant	-	NC_000002.12:g.38986168C>T	ExAC,gnomAD
SOS1	Q07889	p.Val1220Met	RCV000520194	missense variant	Rasopathy	NC_000002.12:g.38986168C>T	ClinVar
SOS1	Q07889	p.Arg1221Thr	rs768987761	missense variant	-	NC_000002.12:g.38986164C>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1223Ser	rs1353982573	missense variant	-	NC_000002.12:g.38986159G>A	gnomAD
SOS1	Q07889	p.Asp1224Gly	rs747415691	missense variant	-	NC_000002.12:g.38986155T>C	ExAC,gnomAD
SOS1	Q07889	p.Phe1226Val	rs1225571110	missense variant	-	NC_000002.12:g.38986150A>C	gnomAD
SOS1	Q07889	p.Ser1227Ter	rs1399192088	stop gained	-	NC_000002.12:g.38986146G>C	gnomAD
SOS1	Q07889	p.Pro1230Ser	rs780536002	missense variant	-	NC_000002.12:g.38986138G>A	ExAC,gnomAD
SOS1	Q07889	p.Leu1233Val	rs777373438	missense variant	-	NC_000002.12:g.38986129G>C	ExAC,gnomAD
SOS1	Q07889	p.Leu1233Ile	rs777373438	missense variant	-	NC_000002.12:g.38986129G>T	ExAC,gnomAD
SOS1	Q07889	p.Leu1233Phe	rs777373438	missense variant	-	NC_000002.12:g.38986129G>A	ExAC,gnomAD
SOS1	Q07889	p.Leu1233Ile	RCV000371601	missense variant	-	NC_000002.12:g.38986129G>T	ClinVar
SOS1	Q07889	p.Gln1234Arg	rs1474325673	missense variant	-	NC_000002.12:g.38986125T>C	gnomAD
SOS1	Q07889	p.Pro1235Ser	RCV000157509	missense variant	Primary familial hypertrophic cardiomyopathy (HCM)	NC_000002.12:g.38986123G>A	ClinVar
SOS1	Q07889	p.Pro1235Ser	rs397517168	missense variant	-	NC_000002.12:g.38986123G>A	TOPMed,gnomAD
SOS1	Q07889	p.Pro1236Thr	RCV000680364	missense variant	-	NC_000002.12:g.38986120G>T	ClinVar
SOS1	Q07889	p.Pro1236Leu	rs533661246	missense variant	-	NC_000002.12:g.38986119G>A	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1236Thr	rs727504636	missense variant	-	NC_000002.12:g.38986120G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1237Ala	RCV000764404	missense variant	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.38986117G>C	ClinVar
SOS1	Q07889	p.Pro1237Ala	RCV000345549	missense variant	-	NC_000002.12:g.38986117G>C	ClinVar
SOS1	Q07889	p.Pro1237Ala	RCV000525329	missense variant	Rasopathy	NC_000002.12:g.38986117G>C	ClinVar
SOS1	Q07889	p.Pro1237Ala	RCV000379826	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38986117G>C	ClinVar
SOS1	Q07889	p.Pro1237Thr	rs371408734	missense variant	-	NC_000002.12:g.38986117G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1237Ser	rs371408734	missense variant	-	NC_000002.12:g.38986117G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Pro1237Thr	RCV000038555	missense variant	-	NC_000002.12:g.38986117G>T	ClinVar
SOS1	Q07889	p.Pro1237Ala	rs371408734	missense variant	-	NC_000002.12:g.38986117G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Leu1238Ser	rs766366434	missense variant	-	NC_000002.12:g.38986113A>G	ExAC,gnomAD
SOS1	Q07889	p.Lys1241Glu	RCV000038556	missense variant	-	NC_000002.12:g.38986105T>C	ClinVar
SOS1	Q07889	p.Lys1241Glu	rs367693130	missense variant	-	NC_000002.12:g.38986105T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Lys1241Glu	RCV000680313	missense variant	-	NC_000002.12:g.38986105T>C	ClinVar
SOS1	Q07889	p.Lys1241Glu	RCV000540046	missense variant	Rasopathy	NC_000002.12:g.38986105T>C	ClinVar
SOS1	Q07889	p.Lys1241Arg	rs750433247	missense variant	-	NC_000002.12:g.38986104T>C	ExAC,gnomAD
SOS1	Q07889	p.Ser1242Gly	RCV000587660	missense variant	-	NC_000002.12:g.38986102T>C	ClinVar
SOS1	Q07889	p.Ser1242Thr	rs1229459993	missense variant	-	NC_000002.12:g.38986101C>G	gnomAD
SOS1	Q07889	p.Ser1242Gly	rs1293079271	missense variant	-	NC_000002.12:g.38986102T>C	gnomAD
SOS1	Q07889	p.Ser1242Ter	RCV000778617	frameshift	Gingival fibromatosis 1 (GINGF1)	NC_000002.12:g.38986108dup	ClinVar
SOS1	Q07889	p.Asp1243Glu	RCV000159118	missense variant	-	NC_000002.12:g.38986097G>C	ClinVar
SOS1	Q07889	p.Asp1243Glu	rs730881026	missense variant	-	NC_000002.12:g.38986097G>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.His1244Asp	rs1305553673	missense variant	-	NC_000002.12:g.38986096G>C	gnomAD
SOS1	Q07889	p.His1244Arg	rs761850358	missense variant	-	NC_000002.12:g.38986095T>C	ExAC,gnomAD
SOS1	Q07889	p.His1244Leu	rs761850358	missense variant	-	NC_000002.12:g.38986095T>A	ExAC,gnomAD
SOS1	Q07889	p.Gly1245Val	RCV000038557	missense variant	-	NC_000002.12:g.38986092C>A	ClinVar
SOS1	Q07889	p.Gly1245Val	rs397517169	missense variant	-	NC_000002.12:g.38986092C>A	TOPMed
SOS1	Q07889	p.Asn1246Ser	rs374110460	missense variant	-	NC_000002.12:g.38986089T>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ala1247Gly	rs768934399	missense variant	-	NC_000002.12:g.38986086G>C	ExAC,gnomAD
SOS1	Q07889	p.Phe1248Leu	rs1186966970	missense variant	-	NC_000002.12:g.38986084A>G	TOPMed
SOS1	Q07889	p.Phe1249Leu	rs775837423	missense variant	-	NC_000002.12:g.38986079G>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1252Thr	rs1160171016	missense variant	-	NC_000002.12:g.38986071C>G	gnomAD
SOS1	Q07889	p.Pro1253Leu	rs772527384	missense variant	-	NC_000002.12:g.38986068G>A	ExAC,gnomAD
SOS1	Q07889	p.Pro1255Thr	rs972166211	missense variant	-	NC_000002.12:g.38986063G>T	TOPMed
SOS1	Q07889	p.Pro1255Arg	rs1376446157	missense variant	-	NC_000002.12:g.38986062G>C	TOPMed
SOS1	Q07889	p.Pro1255Thr	RCV000593291	missense variant	-	NC_000002.12:g.38986063G>T	ClinVar
SOS1	Q07889	p.Pro1255Thr	RCV000475839	missense variant	Rasopathy	NC_000002.12:g.38986063G>T	ClinVar
SOS1	Q07889	p.Thr1257Ile	rs962478091	missense variant	-	NC_000002.12:g.38986056G>A	TOPMed
SOS1	Q07889	p.Thr1257Ala	rs553805862	missense variant	-	NC_000002.12:g.38986057T>C	UniProt,dbSNP
SOS1	Q07889	p.Thr1257Ala	VAR_066059	missense variant	-	NC_000002.12:g.38986057T>C	UniProt
SOS1	Q07889	p.Thr1257Ala	rs553805862	missense variant	-	NC_000002.12:g.38986057T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr1257Ala	RCV000176407	missense variant	-	NC_000002.12:g.38986057T>C	ClinVar
SOS1	Q07889	p.Pro1258Thr	rs956446097	missense variant	-	NC_000002.12:g.38986054G>T	gnomAD
SOS1	Q07889	p.Pro1258Arg	rs140991871	missense variant	-	NC_000002.12:g.38986053G>C	ESP,TOPMed,gnomAD
SOS1	Q07889	p.Pro1260Ala	RCV000550544	missense variant	Rasopathy	NC_000002.12:g.38986048G>C	ClinVar
SOS1	Q07889	p.Pro1260Ala	rs779336305	missense variant	-	NC_000002.12:g.38986048G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro1261Leu	rs1253089461	missense variant	-	NC_000002.12:g.38986044G>A	gnomAD
SOS1	Q07889	p.Pro1264His	rs1194895614	missense variant	-	NC_000002.12:g.38986035G>T	gnomAD
SOS1	Q07889	p.Ser1265Ala	rs886056023	missense variant	-	NC_000002.12:g.38986033A>C	-
SOS1	Q07889	p.Ser1265Ala	RCV000288278	missense variant	Noonan syndrome (NS)	NC_000002.12:g.38986033A>C	ClinVar
SOS1	Q07889	p.Ser1265Ala	RCV000384964	missense variant	-	NC_000002.12:g.38986033A>C	ClinVar
SOS1	Q07889	p.Gly1268Ser	rs730881051	missense variant	-	NC_000002.12:g.38986024C>T	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gly1268Ser	RCV000794937	missense variant	Rasopathy	NC_000002.12:g.38986024C>T	ClinVar
SOS1	Q07889	p.Gly1268Cys	rs730881051	missense variant	-	NC_000002.12:g.38986024C>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Thr1269Arg	rs370528448	missense variant	-	NC_000002.12:g.38986020G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Arg1271Gly	rs1310200958	missense variant	-	NC_000002.12:g.38986015T>C	TOPMed
SOS1	Q07889	p.Arg1271Thr	rs1267319635	missense variant	-	NC_000002.12:g.38986014C>G	gnomAD
SOS1	Q07889	p.His1272Arg	rs1372284070	missense variant	-	NC_000002.12:g.38986011T>C	gnomAD
SOS1	Q07889	p.Leu1273Val	rs377102744	missense variant	-	NC_000002.12:g.38986009G>C	ESP,ExAC,gnomAD
SOS1	Q07889	p.Leu1273Arg	rs1438882639	missense variant	-	NC_000002.12:g.38986008A>C	gnomAD
SOS1	Q07889	p.Pro1274Arg	rs886041565	missense variant	-	NC_000002.12:g.38986005G>C	gnomAD
SOS1	Q07889	p.Pro1274Arg	RCV000303886	missense variant	-	NC_000002.12:g.38986005G>C	ClinVar
SOS1	Q07889	p.Pro1276Ser	RCV000478308	missense variant	-	NC_000002.12:g.38986000G>A	ClinVar
SOS1	Q07889	p.Pro1276Ser	rs1064796575	missense variant	-	NC_000002.12:g.38986000G>A	-
SOS1	Q07889	p.Leu1278Ter	rs1274431996	stop gained	-	NC_000002.12:g.38985993A>T	TOPMed,gnomAD
SOS1	Q07889	p.Thr1279Ile	rs758258471	missense variant	-	NC_000002.12:g.38985990G>A	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Gln1280Lys	rs548519280	missense variant	-	NC_000002.12:g.38985988G>T	1000Genomes,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1286Cys	RCV000589019	missense variant	-	NC_000002.12:g.38985969G>C	ClinVar
SOS1	Q07889	p.Ser1286Phe	RCV000781875	missense variant	-	NC_000002.12:g.38985969G>A	ClinVar
SOS1	Q07889	p.Ser1286Cys	rs374341202	missense variant	-	NC_000002.12:g.38985969G>C	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1286Phe	rs374341202	missense variant	-	NC_000002.12:g.38985969G>A	ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1287Thr	rs775782359	missense variant	-	NC_000002.12:g.38985966A>G	ExAC,gnomAD
SOS1	Q07889	p.Ile1287Val	RCV000616572	missense variant	-	NC_000002.12:g.38985967T>C	ClinVar
SOS1	Q07889	p.Ile1287Val	rs760917490	missense variant	-	NC_000002.12:g.38985967T>C	ExAC,gnomAD
SOS1	Q07889	p.Thr1298Pro	rs139676674	missense variant	-	NC_000002.12:g.38985934T>G	ESP,TOPMed,gnomAD
SOS1	Q07889	p.Thr1298Ala	rs139676674	missense variant	-	NC_000002.12:g.38985934T>C	ESP,TOPMed,gnomAD
SOS1	Q07889	p.SerGln1299Ter	rs730881055	stop gained	-	NC_000002.12:g.38985928_38985930del	-
SOS1	Q07889	p.Ser1299Ter	RCV000159189	nonsense	-	NC_000002.12:g.38985928_38985930del	ClinVar
SOS1	Q07889	p.His1301Arg	rs771396497	missense variant	-	NC_000002.12:g.38985924T>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1302Thr	rs750296853	missense variant	-	NC_000002.12:g.38985921A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ile1302Thr	RCV000414348	missense variant	-	NC_000002.12:g.38985921A>G	ClinVar
SOS1	Q07889	p.Ile1302Thr	RCV000465195	missense variant	Rasopathy	NC_000002.12:g.38985921A>G	ClinVar
SOS1	Q07889	p.Lys1304Gln	rs776281207	missense variant	-	NC_000002.12:g.38985916T>G	ExAC
SOS1	Q07889	p.Leu1305Val	rs1347275717	missense variant	-	NC_000002.12:g.38985913G>C	gnomAD
SOS1	Q07889	p.Arg1312Thr	rs768386760	missense variant	-	NC_000002.12:g.38985891C>G	ExAC
SOS1	Q07889	p.Thr1315Arg	rs779904535	missense variant	-	NC_000002.12:g.38985882G>C	ExAC,gnomAD
SOS1	Q07889	p.His1316Asp	RCV000159185	missense variant	-	NC_000002.12:g.38985880G>C	ClinVar
SOS1	Q07889	p.His1316Asp	RCV000461078	missense variant	Rasopathy	NC_000002.12:g.38985880G>C	ClinVar
SOS1	Q07889	p.His1316Gln	rs1399242305	missense variant	-	NC_000002.12:g.38985878G>C	TOPMed,gnomAD
SOS1	Q07889	p.His1316Tyr	rs371024396	missense variant	-	NC_000002.12:g.38985880G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.His1316Asp	rs371024396	missense variant	-	NC_000002.12:g.38985880G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Ser1318Cys	rs1375806273	missense variant	-	NC_000002.12:g.38985873G>C	gnomAD
SOS1	Q07889	p.Ser1318Thr	RCV000038559	missense variant	-	NC_000002.12:g.38985874A>T	ClinVar
SOS1	Q07889	p.Ser1318Thr	rs397517171	missense variant	-	NC_000002.12:g.38985874A>T	-
SOS1	Q07889	p.Met1319Thr	rs730881036	missense variant	-	NC_000002.12:g.38985870A>G	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met1319Arg	rs730881036	missense variant	-	NC_000002.12:g.38985870A>C	ExAC,TOPMed,gnomAD
SOS1	Q07889	p.Met1319Arg	RCV000159146	missense variant	-	NC_000002.12:g.38985870A>C	ClinVar
SOS1	Q07889	p.His1320Gln	rs1553349464	missense variant	-	NC_000002.12:g.38985866G>C	-
SOS1	Q07889	p.His1320Pro	rs1404062370	missense variant	-	NC_000002.12:g.38985867T>G	TOPMed
SOS1	Q07889	p.His1320Gln	RCV000521073	missense variant	-	NC_000002.12:g.38985866G>C	ClinVar
SOS1	Q07889	p.His1320Arg	VAR_030443	Missense	-	-	UniProt
SOS1	Q07889	p.Arg1321Ter	rs753874333	stop gained	-	NC_000002.12:g.38985865T>A	ExAC,gnomAD
SOS1	Q07889	p.Arg1321Thr	rs1054147959	missense variant	-	NC_000002.12:g.38985864C>G	TOPMed
SOS1	Q07889	p.Asp1322Asn	rs1167931335	missense variant	-	NC_000002.12:g.38985862C>T	gnomAD
SOS1	Q07889	p.Pro1324Arg	RCV000151916	missense variant	-	NC_000002.12:g.38985855G>C	ClinVar
SOS1	Q07889	p.Pro1324Arg	rs727503434	missense variant	-	NC_000002.12:g.38985855G>C	ExAC,gnomAD
SOS1	Q07889	p.Pro1324Leu	rs727503434	missense variant	-	NC_000002.12:g.38985855G>A	ExAC,gnomAD
SOS1	Q07889	p.Leu1326Val	rs1325516428	missense variant	-	NC_000002.12:g.38985850G>C	TOPMed
SOS1	Q07889	p.Leu1326Arg	rs1371048349	missense variant	-	NC_000002.12:g.38985849A>C	gnomAD
SOS1	Q07889	p.Leu1327Trp	rs1191984233	missense variant	-	NC_000002.12:g.38985846A>C	gnomAD
SOS1	Q07889	p.Asn1329Asp	rs756233638	missense variant	-	NC_000002.12:g.38985841T>C	ExAC,gnomAD
SOS1	Q07889	p.Ala1330Pro	rs1259991779	missense variant	-	NC_000002.12:g.38985838C>G	gnomAD
MN1	Q10571	p.Gly3Arg	rs1162136841	missense variant	-	NC_000022.11:g.27800537C>T	gnomAD
MN1	Q10571	p.Gly3Ala	rs750826390	missense variant	-	NC_000022.11:g.27800536C>G	ExAC,gnomAD
MN1	Q10571	p.Asp5Gly	rs1424231790	missense variant	-	NC_000022.11:g.27800530T>C	gnomAD
MN1	Q10571	p.Gln6His	rs369603656	missense variant	-	NC_000022.11:g.27800526T>A	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln6Lys	rs1195840796	missense variant	-	NC_000022.11:g.27800528G>T	TOPMed,gnomAD
MN1	Q10571	p.Glu8Gly	rs768901866	missense variant	-	NC_000022.11:g.27800521T>C	ExAC,gnomAD
MN1	Q10571	p.Glu8Asp	rs1210529897	missense variant	-	NC_000022.11:g.27800520C>A	gnomAD
MN1	Q10571	p.Pro9Thr	rs763125504	missense variant	-	NC_000022.11:g.27800519G>T	ExAC,gnomAD
MN1	Q10571	p.Gln10His	rs776436401	missense variant	-	NC_000022.11:g.27800514C>G	ExAC,gnomAD
MN1	Q10571	p.Val11Ile	rs770576840	missense variant	-	NC_000022.11:g.27800513C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Val11Gly	rs376328026	missense variant	-	NC_000022.11:g.27800512A>C	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asn12Asp	rs772034637	missense variant	-	NC_000022.11:g.27800510T>C	ExAC,gnomAD
MN1	Q10571	p.Ser13Asn	COSM1415396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800506C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Ala16Ser	rs747710930	missense variant	-	NC_000022.11:g.27800498C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln18Arg	rs1192122452	missense variant	-	NC_000022.11:g.27800491T>C	TOPMed
MN1	Q10571	p.Gly19Asp	rs200030766	missense variant	-	NC_000022.11:g.27800488C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asn22Asp	rs1296149750	missense variant	-	NC_000022.11:g.27800480T>C	gnomAD
MN1	Q10571	p.Phe23Cys	rs780470201	missense variant	-	NC_000022.11:g.27800476A>C	ExAC,gnomAD
MN1	Q10571	p.Asn24Ile	rs1172569340	missense variant	-	NC_000022.11:g.27800473T>A	gnomAD
MN1	Q10571	p.Thr26Asn	rs771785043	missense variant	-	NC_000022.11:g.27800467G>T	ExAC,gnomAD
MN1	Q10571	p.Gly27Ala	rs750784642	missense variant	-	NC_000022.11:g.27800464C>G	ExAC,gnomAD
MN1	Q10571	p.Ser29Asn	rs1435032107	missense variant	-	NC_000022.11:g.27800458C>T	gnomAD
MN1	Q10571	p.Met30Thr	rs1400142022	missense variant	-	NC_000022.11:g.27800455A>G	TOPMed
MN1	Q10571	p.Asn31Asp	rs1009404304	missense variant	-	NC_000022.11:g.27800453T>C	TOPMed
MN1	Q10571	p.Thr32Pro	rs762346186	missense variant	-	NC_000022.11:g.27800450T>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Thr32Ser	rs762346186	missense variant	-	NC_000022.11:g.27800450T>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Thr32Ile	rs1439053841	missense variant	-	NC_000022.11:g.27800449G>A	TOPMed
MN1	Q10571	p.Lys35Glu	rs563766025	missense variant	-	NC_000022.11:g.27800441T>C	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Ala36Gly	rs763178625	missense variant	-	NC_000022.11:g.27800437G>C	ExAC,gnomAD
MN1	Q10571	p.Ala36Thr	rs764114510	missense variant	-	NC_000022.11:g.27800438C>T	ExAC,gnomAD
MN1	Q10571	p.Phe39Leu	rs1276011005	missense variant	-	NC_000022.11:g.27800429A>G	gnomAD
MN1	Q10571	p.Phe39Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800427G>C	NCI-TCGA
MN1	Q10571	p.Phe39GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27800418_27800430CCCAGTGTGGAAA>-	NCI-TCGA
MN1	Q10571	p.His40Arg	rs1336058498	missense variant	-	NC_000022.11:g.27800425T>C	TOPMed
MN1	Q10571	p.Thr41Ser	rs1291752583	missense variant	-	NC_000022.11:g.27800422G>C	TOPMed,gnomAD
MN1	Q10571	p.Gly43Val	rs1304236061	missense variant	-	NC_000022.11:g.27800416C>A	gnomAD
MN1	Q10571	p.Pro44Leu	rs773038750	missense variant	-	NC_000022.11:g.27800413G>A	ExAC,gnomAD
MN1	Q10571	p.Pro44Ser	rs760446763	missense variant	-	NC_000022.11:g.27800414G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro44Ala	rs760446763	missense variant	-	NC_000022.11:g.27800414G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro44Arg	rs773038750	missense variant	-	NC_000022.11:g.27800413G>C	ExAC,gnomAD
MN1	Q10571	p.Pro45Ser	rs1468072234	missense variant	-	NC_000022.11:g.27800411G>A	gnomAD
MN1	Q10571	p.Pro45Arg	rs748049013	missense variant	-	NC_000022.11:g.27800410G>C	ExAC,gnomAD
MN1	Q10571	p.Pro45Leu	rs748049013	missense variant	-	NC_000022.11:g.27800410G>A	ExAC,gnomAD
MN1	Q10571	p.Pro45LeuPheSerTerUnk	COSM4702776	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27800410G>-	NCI-TCGA Cosmic
MN1	Q10571	p.Pro45LeuPheSerTerUnk	COSM184141	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27800415C>-	NCI-TCGA Cosmic
MN1	Q10571	p.Gly46Arg	rs778578591	missense variant	-	NC_000022.11:g.27800408C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly46Asp	rs1362070900	missense variant	-	NC_000022.11:g.27800407C>T	gnomAD
MN1	Q10571	p.Gly46Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800407C>G	NCI-TCGA
MN1	Q10571	p.Pro47Ser	rs951572274	missense variant	-	NC_000022.11:g.27800405G>A	-
MN1	Q10571	p.Asp49Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800398T>A	NCI-TCGA
MN1	Q10571	p.Asp49Asn	COSM1033032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800399C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Ala51Val	rs748800962	missense variant	-	NC_000022.11:g.27800392G>A	ExAC,gnomAD
MN1	Q10571	p.Met52Thr	rs1202631953	missense variant	-	NC_000022.11:g.27800389A>G	TOPMed,gnomAD
MN1	Q10571	p.Met52Val	rs755765653	missense variant	-	NC_000022.11:g.27800390T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser53Arg	rs1349174278	missense variant	-	NC_000022.11:g.27800385G>T	gnomAD
MN1	Q10571	p.Ala54Glu	rs1258377633	missense variant	-	NC_000022.11:g.27800383G>T	gnomAD
MN1	Q10571	p.Ile60Val	rs781575749	missense variant	-	NC_000022.11:g.27800366T>C	ExAC,gnomAD
MN1	Q10571	p.Leu61Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800363A>C	NCI-TCGA
MN1	Q10571	p.Gly62Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800360C>G	NCI-TCGA
MN1	Q10571	p.Gly62Ser	COSM1033031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800360C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Met63Ile	rs1231633868	missense variant	-	NC_000022.11:g.27800355C>T	TOPMed
MN1	Q10571	p.Met65Leu	rs199615090	missense variant	-	NC_000022.11:g.27800351T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Met65Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800349C>T	NCI-TCGA
MN1	Q10571	p.Glu66Gln	rs752009579	missense variant	-	NC_000022.11:g.27800348C>G	ExAC,gnomAD
MN1	Q10571	p.Glu66Lys	rs752009579	missense variant	-	NC_000022.11:g.27800348C>T	ExAC,gnomAD
MN1	Q10571	p.Pro67Ser	rs1229729997	missense variant	-	NC_000022.11:g.27800345G>A	TOPMed,gnomAD
MN1	Q10571	p.Tyr68Cys	rs575079706	missense variant	-	NC_000022.11:g.27800341T>C	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Tyr68ThrPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27800342A>-	NCI-TCGA
MN1	Q10571	p.Gly69Val	rs758543225	missense variant	-	NC_000022.11:g.27800338C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly69Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800339C>T	NCI-TCGA
MN1	Q10571	p.Phe70Val	rs1278603134	missense variant	-	NC_000022.11:g.27800336A>C	gnomAD
MN1	Q10571	p.Phe70Leu	COSM6162041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800334G>T	NCI-TCGA Cosmic
MN1	Q10571	p.Ala72Glu	rs1158085027	missense variant	-	NC_000022.11:g.27800329G>T	gnomAD
MN1	Q10571	p.Ala72Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800329G>A	NCI-TCGA
MN1	Q10571	p.Arg73Cys	rs946108416	missense variant	-	NC_000022.11:g.27800327G>A	TOPMed,gnomAD
MN1	Q10571	p.Arg73Ser	rs946108416	missense variant	-	NC_000022.11:g.27800327G>T	TOPMed,gnomAD
MN1	Q10571	p.Arg73His	COSM4103230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800326C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Ser76Leu	rs772911698	missense variant	-	NC_000022.11:g.27800317G>A	ExAC,gnomAD
MN1	Q10571	p.Leu78Ser	rs767284915	missense variant	-	NC_000022.11:g.27800311A>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.His79Gln	rs761846672	missense variant	-	NC_000022.11:g.27800307G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala80Ser	rs1263148999	missense variant	-	NC_000022.11:g.27800306C>A	gnomAD
MN1	Q10571	p.Gly81Arg	rs768699089	missense variant	-	NC_000022.11:g.27800303C>G	ExAC,gnomAD
MN1	Q10571	p.Gly81Arg	rs768699089	missense variant	-	NC_000022.11:g.27800303C>T	ExAC,gnomAD
MN1	Q10571	p.Gly81Ala	rs201422000	missense variant	-	NC_000022.11:g.27800302C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly82Arg	rs775031996	missense variant	-	NC_000022.11:g.27800300C>T	ExAC,gnomAD
MN1	Q10571	p.Leu83CysPheSerTerUnkUnkUnk	COSM2935775	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27800298C>-	NCI-TCGA Cosmic
MN1	Q10571	p.Gln86His	rs781427301	missense variant	-	NC_000022.11:g.27800286C>G	ExAC,gnomAD
MN1	Q10571	p.Gln86Pro	rs745479652	missense variant	-	NC_000022.11:g.27800287T>G	ExAC,gnomAD
MN1	Q10571	p.Pro87Leu	rs757553552	missense variant	-	NC_000022.11:g.27800284G>A	ExAC,gnomAD
MN1	Q10571	p.Val88Met	rs1362464693	missense variant	-	NC_000022.11:g.27800282C>T	gnomAD
MN1	Q10571	p.Gly90Ser	rs747372601	missense variant	-	NC_000022.11:g.27800276C>T	ExAC,gnomAD
MN1	Q10571	p.Gly90Ala	rs1404932402	missense variant	-	NC_000022.11:g.27800275C>G	gnomAD
MN1	Q10571	p.Phe91Cys	rs1270367274	missense variant	-	NC_000022.11:g.27800272A>C	TOPMed
MN1	Q10571	p.Phe91Leu	rs1414835067	missense variant	-	NC_000022.11:g.27800273A>G	gnomAD
MN1	Q10571	p.Gly94Cys	rs778311495	missense variant	-	NC_000022.11:g.27800264C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly94Ser	rs778311495	missense variant	-	NC_000022.11:g.27800264C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln95Arg	rs200805240	missense variant	-	NC_000022.11:g.27800260T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro97Leu	rs1271397057	missense variant	-	NC_000022.11:g.27800254G>A	TOPMed
MN1	Q10571	p.Pro97Ser	rs752761105	missense variant	-	NC_000022.11:g.27800255G>A	ExAC,gnomAD
MN1	Q10571	p.His98Tyr	rs765320661	missense variant	-	NC_000022.11:g.27800252G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.His99Tyr	rs1264640955	missense variant	-	NC_000022.11:g.27800249G>A	gnomAD
MN1	Q10571	p.His99Arg	rs755169047	missense variant	-	NC_000022.11:g.27800248T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro102Leu	rs754024849	missense variant	-	NC_000022.11:g.27800239G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro102Gln	rs754024849	missense variant	-	NC_000022.11:g.27800239G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly103Val	rs773965619	missense variant	-	NC_000022.11:g.27800236C>A	gnomAD
MN1	Q10571	p.Gly103Ter	rs558501460	stop gained	-	NC_000022.11:g.27800237C>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Gly103Glu	rs773965619	missense variant	-	NC_000022.11:g.27800236C>T	gnomAD
MN1	Q10571	p.Gly103Arg	rs558501460	missense variant	-	NC_000022.11:g.27800237C>T	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Ser104Asn	rs1478469816	missense variant	-	NC_000022.11:g.27800233C>T	gnomAD
MN1	Q10571	p.His105Arg	rs1248290474	missense variant	-	NC_000022.11:g.27800230T>C	TOPMed,gnomAD
MN1	Q10571	p.His105Tyr	rs774262801	missense variant	-	NC_000022.11:g.27800231G>A	ExAC,gnomAD
MN1	Q10571	p.His108Gln	rs979466925	missense variant	-	NC_000022.11:g.27800220G>C	TOPMed
MN1	Q10571	p.His108Leu	rs1281406721	missense variant	-	NC_000022.11:g.27800221T>A	gnomAD
MN1	Q10571	p.Gln109Ter	rs1435894938	stop gained	-	NC_000022.11:g.27800219G>A	gnomAD
MN1	Q10571	p.Gln109His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800217C>A	NCI-TCGA
MN1	Q10571	p.His110Arg	rs762940355	missense variant	-	NC_000022.11:g.27800215T>C	ExAC,gnomAD
MN1	Q10571	p.His110Tyr	rs1165928169	missense variant	-	NC_000022.11:g.27800216G>A	TOPMed
MN1	Q10571	p.His111Gln	rs1325840496	missense variant	-	NC_000022.11:g.27800211G>T	gnomAD
MN1	Q10571	p.Pro112Leu	rs1408571472	missense variant	-	NC_000022.11:g.27800209G>A	gnomAD
MN1	Q10571	p.His113Tyr	rs769294628	missense variant	-	NC_000022.11:g.27800207G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.His113Asn	rs769294628	missense variant	-	NC_000022.11:g.27800207G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Phe114Leu	rs770559977	missense variant	-	NC_000022.11:g.27800202A>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Phe114Ser	rs776415356	missense variant	-	NC_000022.11:g.27800203A>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asn117Ser	rs983204078	missense variant	-	NC_000022.11:g.27800194T>C	TOPMed,gnomAD
MN1	Q10571	p.Asn117GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27800196_27800197insC	NCI-TCGA
MN1	Q10571	p.Gly119Ser	rs1477438863	missense variant	-	NC_000022.11:g.27800189C>T	gnomAD
MN1	Q10571	p.Gly120Val	rs1223225726	missense variant	-	NC_000022.11:g.27800185C>A	gnomAD
MN1	Q10571	p.Gly120Asp	rs1223225726	missense variant	-	NC_000022.11:g.27800185C>T	gnomAD
MN1	Q10571	p.Gly120Cys	rs747425753	missense variant	-	NC_000022.11:g.27800186C>A	ExAC,gnomAD
MN1	Q10571	p.Pro123Leu	rs570112158	missense variant	-	NC_000022.11:g.27800176G>A	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro123Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27800177G>A	NCI-TCGA
MN1	Q10571	p.Gly124Arg	rs748640233	missense variant	-	NC_000022.11:g.27800174C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser126Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.27800167G>T	NCI-TCGA
MN1	Q10571	p.Leu128Arg	rs1368485143	missense variant	-	NC_000022.11:g.27800161A>C	gnomAD
MN1	Q10571	p.His129Leu	rs1327809917	missense variant	-	NC_000022.11:g.27800158T>A	TOPMed
MN1	Q10571	p.His129Gln	rs1276698686	missense variant	-	NC_000022.11:g.27800157G>T	gnomAD
MN1	Q10571	p.Gly130Ala	rs778861876	missense variant	-	NC_000022.11:g.27800155C>G	ExAC,gnomAD
MN1	Q10571	p.Gly130Arg	rs960588703	missense variant	-	NC_000022.11:g.27800156C>G	TOPMed,gnomAD
MN1	Q10571	p.Gly130Arg	rs960588703	missense variant	-	NC_000022.11:g.27800156C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly131Val	rs753846776	missense variant	-	NC_000022.11:g.27800152C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly131Cys	rs755151921	missense variant	-	NC_000022.11:g.27800153C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg132His	rs994464931	missense variant	-	NC_000022.11:g.27800149C>T	TOPMed,gnomAD
MN1	Q10571	p.Arg132Ser	rs1027359002	missense variant	-	NC_000022.11:g.27800150G>T	TOPMed
MN1	Q10571	p.Arg132Cys	rs1027359002	missense variant	-	NC_000022.11:g.27800150G>A	TOPMed
MN1	Q10571	p.Leu133Val	rs1425186878	missense variant	-	NC_000022.11:g.27800147G>C	gnomAD
MN1	Q10571	p.Gly137Arg	rs756370849	missense variant	-	NC_000022.11:g.27800135C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly137Ser	rs756370849	missense variant	-	NC_000022.11:g.27800135C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly138Asp	rs1458967999	missense variant	-	NC_000022.11:g.27800131C>T	gnomAD
MN1	Q10571	p.Gly138Ser	rs1178995046	missense variant	-	NC_000022.11:g.27800132C>T	gnomAD
MN1	Q10571	p.Ala140Val	rs1209258911	missense variant	-	NC_000022.11:g.27800125G>A	gnomAD
MN1	Q10571	p.Gly141Arg	rs1312718024	missense variant	-	NC_000022.11:g.27800123C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly141Arg	rs1312718024	missense variant	-	NC_000022.11:g.27800123C>G	TOPMed,gnomAD
MN1	Q10571	p.Gly142Val	rs751428267	missense variant	-	NC_000022.11:g.27800119C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly142Ser	rs1280770810	missense variant	-	NC_000022.11:g.27800120C>T	gnomAD
MN1	Q10571	p.Gly144Asp	rs1353220816	missense variant	-	NC_000022.11:g.27800113C>T	gnomAD
MN1	Q10571	p.Pro147Leu	rs763929036	missense variant	-	NC_000022.11:g.27800104G>A	ExAC,gnomAD
MN1	Q10571	p.Pro147Thr	rs1449452450	missense variant	-	NC_000022.11:g.27800105G>T	gnomAD
MN1	Q10571	p.Pro148Ser	rs762815374	missense variant	-	NC_000022.11:g.27800102G>A	ExAC,gnomAD
MN1	Q10571	p.Phe149Leu	rs1015860322	missense variant	-	NC_000022.11:g.27800097G>C	TOPMed,gnomAD
MN1	Q10571	p.Ala150Ser	rs1361437225	missense variant	-	NC_000022.11:g.27800096C>A	gnomAD
MN1	Q10571	p.Glu151Lys	rs1417371995	missense variant	-	NC_000022.11:g.27800093C>T	gnomAD
MN1	Q10571	p.Gly152Val	rs535628380	missense variant	-	NC_000022.11:g.27800089C>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Tyr153Cys	rs1386404274	missense variant	-	NC_000022.11:g.27800086T>C	TOPMed
MN1	Q10571	p.Glu154Gly	rs1158942852	missense variant	-	NC_000022.11:g.27800083T>C	gnomAD
MN1	Q10571	p.His155Tyr	rs776099087	missense variant	-	NC_000022.11:g.27800081G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.His155Gln	rs1343574175	missense variant	-	NC_000022.11:g.27800079G>C	gnomAD
MN1	Q10571	p.Met156Arg	rs760281612	missense variant	-	NC_000022.11:g.27800077A>C	ExAC,gnomAD
MN1	Q10571	p.Met156Thr	rs760281612	missense variant	-	NC_000022.11:g.27800077A>G	ExAC,gnomAD
MN1	Q10571	p.Ala157Val	rs773589784	missense variant	-	NC_000022.11:g.27800074G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala157Glu	rs773589784	missense variant	-	NC_000022.11:g.27800074G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala157Thr	rs1181093500	missense variant	-	NC_000022.11:g.27800075C>T	gnomAD
MN1	Q10571	p.Glu158Lys	rs772354812	missense variant	-	NC_000022.11:g.27800072C>T	ExAC,gnomAD
MN1	Q10571	p.Ser159Asn	rs1214513931	missense variant	-	NC_000022.11:g.27800068C>T	gnomAD
MN1	Q10571	p.Gly161Arg	rs1287008202	missense variant	-	NC_000022.11:g.27800063C>T	gnomAD
MN1	Q10571	p.Pro162Thr	rs1320164866	missense variant	-	NC_000022.11:g.27800060G>T	gnomAD
MN1	Q10571	p.Glu163Asp	rs1229290447	missense variant	-	NC_000022.11:g.27800055C>G	gnomAD
MN1	Q10571	p.Glu163Lys	rs891364169	missense variant	-	NC_000022.11:g.27800057C>T	TOPMed,gnomAD
MN1	Q10571	p.Ser164Thr	rs779530474	missense variant	-	NC_000022.11:g.27800053C>G	ExAC,gnomAD
MN1	Q10571	p.Gly166Cys	rs368391246	missense variant	-	NC_000022.11:g.27800048C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly166Arg	rs368391246	missense variant	-	NC_000022.11:g.27800048C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro170Gln	rs546917584	missense variant	-	NC_000022.11:g.27800035G>T	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Pro170Leu	rs546917584	missense variant	-	NC_000022.11:g.27800035G>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Pro174Leu	rs1366390317	missense variant	-	NC_000022.11:g.27800023G>A	TOPMed,gnomAD
MN1	Q10571	p.Pro174Ala	rs1421091700	missense variant	-	NC_000022.11:g.27800024G>C	gnomAD
MN1	Q10571	p.Asp175Gly	rs1261830542	missense variant	-	NC_000022.11:g.27800020T>C	TOPMed
MN1	Q10571	p.Phe176Tyr	rs1352858038	missense variant	-	NC_000022.11:g.27800017A>T	TOPMed
MN1	Q10571	p.Ser178Arg	rs750612058	missense variant	-	NC_000022.11:g.27800010A>C	ExAC,gnomAD
MN1	Q10571	p.Gly180Cys	rs1191504197	missense variant	-	NC_000022.11:g.27800006C>A	gnomAD
MN1	Q10571	p.Ala181Ser	rs777718995	missense variant	-	NC_000022.11:g.27800003C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala181Val	rs1218927368	missense variant	-	NC_000022.11:g.27800002G>A	gnomAD
MN1	Q10571	p.Ala181Pro	rs777718995	missense variant	-	NC_000022.11:g.27800003C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser182Pro	rs1469107313	missense variant	-	NC_000022.11:g.27800000A>G	TOPMed
MN1	Q10571	p.Val186Leu	rs753379883	missense variant	-	NC_000022.11:g.27799988C>A	ExAC,gnomAD
MN1	Q10571	p.Pro192Arg	rs1388104292	missense variant	-	NC_000022.11:g.27799969G>C	gnomAD
MN1	Q10571	p.Pro192Ser	rs771610867	missense variant	-	NC_000022.11:g.27799970G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro192Leu	rs1388104292	missense variant	-	NC_000022.11:g.27799969G>A	gnomAD
MN1	Q10571	p.Leu193Pro	rs1157824429	missense variant	-	NC_000022.11:g.27799966A>G	TOPMed
MN1	Q10571	p.Asp194Asn	rs1292645652	missense variant	-	NC_000022.11:g.27799964C>T	gnomAD
MN1	Q10571	p.Asp194Ala	rs1458218521	missense variant	-	NC_000022.11:g.27799963T>G	gnomAD
MN1	Q10571	p.Gln195Ter	rs1396322569	stop gained	-	NC_000022.11:g.27799961G>A	gnomAD
MN1	Q10571	p.Ser196Thr	rs762284892	missense variant	-	NC_000022.11:g.27799957C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro197Thr	rs1442721772	missense variant	-	NC_000022.11:g.27799955G>T	TOPMed
MN1	Q10571	p.Arg199Gln	rs1424294730	missense variant	-	NC_000022.11:g.27799948C>T	gnomAD
MN1	Q10571	p.Ala201Ser	rs774546408	missense variant	-	NC_000022.11:g.27799943C>A	ExAC,gnomAD
MN1	Q10571	p.Phe203Ser	rs749706989	missense variant	-	NC_000022.11:g.27799936A>G	ExAC,gnomAD
MN1	Q10571	p.Phe203Leu	rs775720744	missense variant	-	NC_000022.11:g.27799935G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.His204Arg	rs1463472414	missense variant	-	NC_000022.11:g.27799933T>C	gnomAD
MN1	Q10571	p.His204Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799934G>T	NCI-TCGA
MN1	Q10571	p.Gly205Ser	rs1489595143	missense variant	-	NC_000022.11:g.27799931C>T	gnomAD
MN1	Q10571	p.Pro207Leu	rs1198450862	missense variant	-	NC_000022.11:g.27799924G>A	TOPMed,gnomAD
MN1	Q10571	p.Pro207Arg	rs1198450862	missense variant	-	NC_000022.11:g.27799924G>C	TOPMed,gnomAD
MN1	Q10571	p.Ser210Thr	rs769924728	missense variant	-	NC_000022.11:g.27799915C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser212Pro	rs1299999031	missense variant	-	NC_000022.11:g.27799910A>G	gnomAD
MN1	Q10571	p.Ser216Gly	rs1329006349	missense variant	-	NC_000022.11:g.27799898T>C	gnomAD
MN1	Q10571	p.Glu218Asp	rs1400921086	missense variant	-	NC_000022.11:g.27799890C>A	gnomAD
MN1	Q10571	p.Arg220Gln	rs1464486620	missense variant	-	NC_000022.11:g.27799885C>T	gnomAD
MN1	Q10571	p.Arg221Thr	rs1377081671	missense variant	-	NC_000022.11:g.27799882C>G	gnomAD
MN1	Q10571	p.Thr223Lys	rs1199706307	missense variant	-	NC_000022.11:g.27799876G>T	gnomAD
MN1	Q10571	p.Gln225Glu	rs757402494	missense variant	-	NC_000022.11:g.27799871G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln225Lys	rs757402494	missense variant	-	NC_000022.11:g.27799871G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly226Arg	rs1178387281	missense variant	-	NC_000022.11:g.27799868C>T	gnomAD
MN1	Q10571	p.Ala227Asp	rs748016757	missense variant	-	NC_000022.11:g.27799864G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Val228Leu	rs778534551	missense variant	-	NC_000022.11:g.27799862C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Val228Ile	rs778534551	missense variant	-	NC_000022.11:g.27799862C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asp229Asn	rs1344942993	missense variant	-	NC_000022.11:g.27799859C>T	gnomAD
MN1	Q10571	p.Asn234Ser	rs754965822	missense variant	-	NC_000022.11:g.27799843T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Glu238Lys	rs1377278005	missense variant	-	NC_000022.11:g.27799832C>T	gnomAD
MN1	Q10571	p.Ala239Val	rs1394165384	missense variant	-	NC_000022.11:g.27799828G>A	gnomAD
MN1	Q10571	p.Gly242Glu	rs761329146	missense variant	-	NC_000022.11:g.27799819C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly242Val	rs761329146	missense variant	-	NC_000022.11:g.27799819C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly242Arg	rs749910148	missense variant	-	NC_000022.11:g.27799820C>T	ExAC,gnomAD
MN1	Q10571	p.His243Arg	rs1158344981	missense variant	-	NC_000022.11:g.27799816T>C	gnomAD
MN1	Q10571	p.Asp245Glu	rs774798974	missense variant	-	NC_000022.11:g.27799809G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Met246Val	rs1365854327	missense variant	-	NC_000022.11:g.27799808T>C	gnomAD
MN1	Q10571	p.Phe247Leu	rs1185899359	missense variant	-	NC_000022.11:g.27799805A>G	gnomAD
MN1	Q10571	p.Ser248Pro	rs764304064	missense variant	-	NC_000022.11:g.27799802A>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser250Cys	COSM1484128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799795G>C	NCI-TCGA Cosmic
MN1	Q10571	p.Ser252Pro	rs1200516016	missense variant	-	NC_000022.11:g.27799790A>G	gnomAD
MN1	Q10571	p.Ser252Tyr	rs1457685806	missense variant	-	NC_000022.11:g.27799789G>T	TOPMed
MN1	Q10571	p.Ser252Cys	COSM4846489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799789G>C	NCI-TCGA Cosmic
MN1	Q10571	p.Gly254Glu	rs1299141272	missense variant	-	NC_000022.11:g.27799783C>T	TOPMed
MN1	Q10571	p.Leu256Val	rs1283267948	missense variant	-	NC_000022.11:g.27799778G>C	gnomAD
MN1	Q10571	p.Pro257Ser	rs1238898626	missense variant	-	NC_000022.11:g.27799775G>A	gnomAD
MN1	Q10571	p.His258Ter	RCV000786031	frameshift	Chordoma (CHDM)	NC_000022.11:g.27799768_27799772del	ClinVar
MN1	Q10571	p.Ala260Val	rs143732344	missense variant	-	NC_000022.11:g.27799765G>A	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala261Thr	rs1334820333	missense variant	-	NC_000022.11:g.27799763C>T	gnomAD
MN1	Q10571	p.Gly262Asp	rs1358634118	missense variant	-	NC_000022.11:g.27799759C>T	gnomAD
MN1	Q10571	p.Gly262Ter	RCV000786030	frameshift	Chordoma (CHDM)	NC_000022.11:g.27799761del	ClinVar
MN1	Q10571	p.Arg263Leu	rs866357132	missense variant	-	NC_000022.11:g.27799756C>A	gnomAD
MN1	Q10571	p.Arg263His	rs866357132	missense variant	-	NC_000022.11:g.27799756C>T	gnomAD
MN1	Q10571	p.Arg263Cys	rs754663447	missense variant	-	NC_000022.11:g.27799757G>A	ExAC,gnomAD
MN1	Q10571	p.Gln264His	rs749069601	missense variant	-	NC_000022.11:g.27799752C>A	ExAC,gnomAD
MN1	Q10571	p.Pro266His	rs1231316049	missense variant	-	NC_000022.11:g.27799747G>T	TOPMed,gnomAD
MN1	Q10571	p.Pro266Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799748G>A	NCI-TCGA
MN1	Q10571	p.Pro271Ser	rs756012760	missense variant	-	NC_000022.11:g.27799733G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro271Ala	rs756012760	missense variant	-	NC_000022.11:g.27799733G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly272Ser	rs749965197	missense variant	-	NC_000022.11:g.27799730C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly272Asp	rs1447187355	missense variant	-	NC_000022.11:g.27799729C>T	gnomAD
MN1	Q10571	p.Ala273Ser	rs201186821	missense variant	-	NC_000022.11:g.27799727C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser274Trp	rs1015032812	missense variant	-	NC_000022.11:g.27799723G>C	TOPMed,gnomAD
MN1	Q10571	p.Ser274Pro	rs1207830235	missense variant	-	NC_000022.11:g.27799724A>G	TOPMed,gnomAD
MN1	Q10571	p.Ser274Leu	rs1015032812	missense variant	-	NC_000022.11:g.27799723G>A	TOPMed,gnomAD
MN1	Q10571	p.Met276Thr	rs1235003365	missense variant	-	NC_000022.11:g.27799717A>G	gnomAD
MN1	Q10571	p.Met276Val	rs1428801754	missense variant	-	NC_000022.11:g.27799718T>C	TOPMed
MN1	Q10571	p.Met276Lys	rs1235003365	missense variant	-	NC_000022.11:g.27799717A>T	gnomAD
MN1	Q10571	p.Met276Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799716C>T	NCI-TCGA
MN1	Q10571	p.Arg278Lys	rs1338367349	missense variant	-	NC_000022.11:g.27799711C>T	gnomAD
MN1	Q10571	p.Ala279Ser	rs1277603568	missense variant	-	NC_000022.11:g.27799709C>A	gnomAD
MN1	Q10571	p.Ala280Pro	rs1400740143	missense variant	-	NC_000022.11:g.27799706C>G	gnomAD
MN1	Q10571	p.Ala280Val	rs867278977	missense variant	-	NC_000022.11:g.27799705G>A	gnomAD
MN1	Q10571	p.Met282Val	rs756945063	missense variant	-	NC_000022.11:g.27799700T>C	ExAC,gnomAD
MN1	Q10571	p.Met282Leu	rs756945063	missense variant	-	NC_000022.11:g.27799700T>G	ExAC,gnomAD
MN1	Q10571	p.Val283Ala	rs1391836335	missense variant	-	NC_000022.11:g.27799696A>G	gnomAD
MN1	Q10571	p.Gly284Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799693C>T	NCI-TCGA
MN1	Q10571	p.Ser286Thr	rs997024111	missense variant	-	NC_000022.11:g.27799688A>T	TOPMed,gnomAD
MN1	Q10571	p.Lys287Glu	rs1423597588	missense variant	-	NC_000022.11:g.27799685T>C	gnomAD
MN1	Q10571	p.His289Pro	rs1475489343	missense variant	-	NC_000022.11:g.27799678T>G	TOPMed,gnomAD
MN1	Q10571	p.His289Leu	rs1475489343	missense variant	-	NC_000022.11:g.27799678T>A	TOPMed,gnomAD
MN1	Q10571	p.His289Tyr	rs1192275572	missense variant	-	NC_000022.11:g.27799679G>A	gnomAD
MN1	Q10571	p.Gln291His	rs563396290	missense variant	-	NC_000022.11:g.27799671C>G	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln295Pro	rs1339739234	missense variant	-	NC_000022.11:g.27799660T>G	TOPMed
MN1	Q10571	p.Gln296His	rs763473301	missense variant	-	NC_000022.11:g.27799656C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln296His	rs763473301	missense variant	-	NC_000022.11:g.27799656C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln296Pro	rs1426476119	missense variant	-	NC_000022.11:g.27799657T>G	gnomAD
MN1	Q10571	p.Pro297Ser	rs775977953	missense variant	-	NC_000022.11:g.27799655G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro297Thr	rs775977953	missense variant	-	NC_000022.11:g.27799655G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln298Arg	rs1219318095	missense variant	-	NC_000022.11:g.27799651T>C	gnomAD
MN1	Q10571	p.Gln299Pro	rs1187843456	missense variant	-	NC_000022.11:g.27799648T>G	TOPMed
MN1	Q10571	p.Gln299Ter	rs1364080799	stop gained	-	NC_000022.11:g.27799649G>A	gnomAD
MN1	Q10571	p.Gln299His	rs1416971909	missense variant	-	NC_000022.11:g.27799647C>G	TOPMed
MN1	Q10571	p.Gln302Glu	rs765888331	missense variant	-	NC_000022.11:g.27799640G>C	ExAC,gnomAD
MN1	Q10571	p.Pro303Thr	rs760082167	missense variant	-	NC_000022.11:g.27799637G>T	ExAC,TOPMed
MN1	Q10571	p.Pro303Ser	rs760082167	missense variant	-	NC_000022.11:g.27799637G>A	ExAC,TOPMed
MN1	Q10571	p.Gln304Glu	rs1396183447	missense variant	-	NC_000022.11:g.27799634G>C	TOPMed
MN1	Q10571	p.Gln307Arg	rs1174037284	missense variant	-	NC_000022.11:g.27799624T>C	TOPMed
MN1	Q10571	p.His310Arg	rs1290804900	missense variant	-	NC_000022.11:g.27799615T>C	TOPMed
MN1	Q10571	p.Gly311Asp	rs1217475664	missense variant	-	NC_000022.11:g.27799612C>T	TOPMed
MN1	Q10571	p.Phe313Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799605G>T	NCI-TCGA
MN1	Q10571	p.Glu315Gly	rs1172101325	missense variant	-	NC_000022.11:g.27799600T>C	gnomAD
MN1	Q10571	p.Glu315Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799599C>A	NCI-TCGA
MN1	Q10571	p.Arg316Lys	rs1412136422	missense variant	-	NC_000022.11:g.27799597C>T	gnomAD
MN1	Q10571	p.Arg316ValPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27799597_27799598CT>-	NCI-TCGA
MN1	Q10571	p.Gly319Glu	rs1420961832	missense variant	-	NC_000022.11:g.27799588C>T	TOPMed,gnomAD
MN1	Q10571	p.Ala320Thr	rs1254774105	missense variant	-	NC_000022.11:g.27799586C>T	gnomAD
MN1	Q10571	p.Lys322Thr	rs776797040	missense variant	-	NC_000022.11:g.27799579T>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Met323Ile	rs770858733	missense variant	-	NC_000022.11:g.27799575C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Met323Thr	rs1253285822	missense variant	-	NC_000022.11:g.27799576A>G	gnomAD
MN1	Q10571	p.Pro324Leu	rs1209787824	missense variant	-	NC_000022.11:g.27799573G>A	gnomAD
MN1	Q10571	p.Pro324His	COSM1415394	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799573G>T	NCI-TCGA Cosmic
MN1	Q10571	p.Val325Met	rs1456325331	missense variant	-	NC_000022.11:g.27799571C>T	gnomAD
MN1	Q10571	p.Gly326Asp	rs542100085	missense variant	-	NC_000022.11:g.27799567C>T	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro329Ser	rs1205058464	missense variant	-	NC_000022.11:g.27799559G>A	TOPMed,gnomAD
MN1	Q10571	p.Pro329Leu	rs947904585	missense variant	-	NC_000022.11:g.27799558G>A	TOPMed,gnomAD
MN1	Q10571	p.Val331Gly	rs1483168206	missense variant	-	NC_000022.11:g.27799552A>C	gnomAD
MN1	Q10571	p.Val331Leu	rs1479210738	missense variant	-	NC_000022.11:g.27799553C>A	TOPMed
MN1	Q10571	p.Gly332Ser	rs1276540804	missense variant	-	NC_000022.11:g.27799550C>T	gnomAD
MN1	Q10571	p.Pro336Gln	rs1348842309	missense variant	-	NC_000022.11:g.27799537G>T	gnomAD
MN1	Q10571	p.Pro340Leu	rs1445020945	missense variant	-	NC_000022.11:g.27799525G>A	gnomAD
MN1	Q10571	p.Pro341Ser	rs1376540572	missense variant	-	NC_000022.11:g.27799523G>A	gnomAD
MN1	Q10571	p.Gln342His	rs1275842597	missense variant	-	NC_000022.11:g.27799518C>A	gnomAD
MN1	Q10571	p.Gln343Glu	rs1444937888	missense variant	-	NC_000022.11:g.27799517G>C	gnomAD
MN1	Q10571	p.Ala344Val	rs530327845	missense variant	-	NC_000022.11:g.27799513G>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Pro345Arg	rs1331590918	missense variant	-	NC_000022.11:g.27799510G>C	TOPMed,gnomAD
MN1	Q10571	p.Pro347Arg	rs1425112325	missense variant	-	NC_000022.11:g.27799504G>C	TOPMed
MN1	Q10571	p.Pro347Ser	rs749119867	missense variant	-	NC_000022.11:g.27799505G>A	ExAC,gnomAD
MN1	Q10571	p.Pro347Thr	rs749119867	missense variant	-	NC_000022.11:g.27799505G>T	ExAC,gnomAD
MN1	Q10571	p.Pro348Ser	rs986147784	missense variant	-	NC_000022.11:g.27799502G>A	TOPMed,gnomAD
MN1	Q10571	p.Pro348Ala	rs986147784	missense variant	-	NC_000022.11:g.27799502G>C	TOPMed,gnomAD
MN1	Q10571	p.Pro348Thr	COSM1415393	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799502G>T	NCI-TCGA Cosmic
MN1	Q10571	p.Gln351His	rs1386699729	missense variant	-	NC_000022.11:g.27799491C>A	TOPMed
MN1	Q10571	p.Pro353Arg	rs961803567	missense variant	-	NC_000022.11:g.27799486G>C	TOPMed
MN1	Q10571	p.Pro353Leu	rs961803567	missense variant	-	NC_000022.11:g.27799486G>A	TOPMed
MN1	Q10571	p.Pro353Ser	rs955572144	missense variant	-	NC_000022.11:g.27799487G>A	gnomAD
MN1	Q10571	p.Gln355Arg	rs1481556456	missense variant	-	NC_000022.11:g.27799480T>C	gnomAD
MN1	Q10571	p.Gln358Pro	rs868192034	missense variant	-	NC_000022.11:g.27799471T>G	TOPMed
MN1	Q10571	p.Gln358Lys	rs1235713038	missense variant	-	NC_000022.11:g.27799472G>T	gnomAD
MN1	Q10571	p.Gln360Pro	rs1265754402	missense variant	-	NC_000022.11:g.27799465T>G	TOPMed
MN1	Q10571	p.Pro361Gln	rs780754305	missense variant	-	NC_000022.11:g.27799462G>T	ExAC,TOPMed
MN1	Q10571	p.Pro361Leu	rs780754305	missense variant	-	NC_000022.11:g.27799462G>A	ExAC,TOPMed
MN1	Q10571	p.Pro361Ser	rs745732833	missense variant	-	NC_000022.11:g.27799463G>A	ExAC,gnomAD
MN1	Q10571	p.Pro365Ser	rs997075008	missense variant	-	NC_000022.11:g.27799451G>A	TOPMed
MN1	Q10571	p.Arg370Gln	rs1353293636	missense variant	-	NC_000022.11:g.27799435C>T	gnomAD
MN1	Q10571	p.Asn372His	rs1409939953	missense variant	-	NC_000022.11:g.27799430T>G	TOPMed
MN1	Q10571	p.Pro375Leu	rs777344383	missense variant	-	NC_000022.11:g.27799420G>A	ExAC,gnomAD
MN1	Q10571	p.Pro376Leu	rs1415938001	missense variant	-	NC_000022.11:g.27799417G>A	gnomAD
MN1	Q10571	p.Pro376Ser	rs753146931	missense variant	-	NC_000022.11:g.27799418G>A	ExAC,gnomAD
MN1	Q10571	p.Ala377Thr	rs1375456766	missense variant	-	NC_000022.11:g.27799415C>T	TOPMed,gnomAD
MN1	Q10571	p.Ala377Ser	rs1375456766	missense variant	-	NC_000022.11:g.27799415C>A	TOPMed,gnomAD
MN1	Q10571	p.Pro379Ser	rs1022503123	missense variant	-	NC_000022.11:g.27799409G>A	TOPMed,gnomAD
MN1	Q10571	p.Pro379Leu	rs765649603	missense variant	-	NC_000022.11:g.27799408G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg380Pro	rs1159531777	missense variant	-	NC_000022.11:g.27799405C>G	gnomAD
MN1	Q10571	p.Arg380Trp	rs1359546111	missense variant	-	NC_000022.11:g.27799406G>A	gnomAD
MN1	Q10571	p.Pro381Thr	rs1420714164	missense variant	-	NC_000022.11:g.27799403G>T	gnomAD
MN1	Q10571	p.Pro381His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799402G>T	NCI-TCGA
MN1	Q10571	p.Gln382His	rs45589338	missense variant	-	NC_000022.11:g.27799398C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln382His	rs45589338	missense variant	-	NC_000022.11:g.27799398C>A	UniProt,dbSNP
MN1	Q10571	p.Gln382His	VAR_047533	missense variant	-	NC_000022.11:g.27799398C>A	UniProt
MN1	Q10571	p.Gln382His	rs45589338	missense variant	-	NC_000022.11:g.27799398C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Glu385Asp	rs1475502869	missense variant	-	NC_000022.11:g.27799389C>G	gnomAD
MN1	Q10571	p.Glu385Gln	rs1286384611	missense variant	-	NC_000022.11:g.27799391C>G	TOPMed
MN1	Q10571	p.Glu385AspPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27799389_27799390insTACA	NCI-TCGA
MN1	Q10571	p.Ala386Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799387G>C	NCI-TCGA
MN1	Q10571	p.Gly387Asp	rs1214589596	missense variant	-	NC_000022.11:g.27799384C>T	gnomAD
MN1	Q10571	p.Thr388Lys	rs766906739	missense variant	-	NC_000022.11:g.27799381G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Thr388Ala	rs754233954	missense variant	-	NC_000022.11:g.27799382T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser390Gly	rs1407007969	missense variant	-	NC_000022.11:g.27799376T>C	gnomAD
MN1	Q10571	p.Ser390Arg	rs1320219435	missense variant	-	NC_000022.11:g.27799374G>C	gnomAD
MN1	Q10571	p.Gly392Ser	rs1312471411	missense variant	-	NC_000022.11:g.27799370C>T	gnomAD
MN1	Q10571	p.Gln394Arg	rs760715677	missense variant	-	NC_000022.11:g.27799363T>C	ExAC,gnomAD
MN1	Q10571	p.Asp395Glu	rs773309616	missense variant	-	NC_000022.11:g.27799359G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly396Arg	rs1438898275	missense variant	-	NC_000022.11:g.27799358C>T	TOPMed
MN1	Q10571	p.Gly397Asp	rs1397645177	missense variant	-	NC_000022.11:g.27799354C>T	gnomAD
MN1	Q10571	p.Pro398Thr	rs895699778	missense variant	-	NC_000022.11:g.27799352G>T	TOPMed,gnomAD
MN1	Q10571	p.Met399Val	rs1360819614	missense variant	-	NC_000022.11:g.27799349T>C	gnomAD
MN1	Q10571	p.Pro401Ser	rs1455029857	missense variant	-	NC_000022.11:g.27799343G>A	gnomAD
MN1	Q10571	p.Gln403His	rs369476397	missense variant	-	NC_000022.11:g.27799335C>G	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.His404Tyr	rs1419991882	missense variant	-	NC_000022.11:g.27799334G>A	gnomAD
MN1	Q10571	p.Ala405Thr	rs1191573479	missense variant	-	NC_000022.11:g.27799331C>T	TOPMed,gnomAD
MN1	Q10571	p.Ala405Glu	rs1477571904	missense variant	-	NC_000022.11:g.27799330G>T	gnomAD
MN1	Q10571	p.Gln406Glu	rs769506961	missense variant	-	NC_000022.11:g.27799328G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Phe407Tyr	rs745668238	missense variant	-	NC_000022.11:g.27799324A>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Glu408Gln	rs1431411554	missense variant	-	NC_000022.11:g.27799322C>G	TOPMed
MN1	Q10571	p.Glu408Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799322C>T	NCI-TCGA
MN1	Q10571	p.His412Tyr	rs770881977	missense variant	-	NC_000022.11:g.27799310G>A	ExAC,gnomAD
MN1	Q10571	p.His412Arg	rs746543801	missense variant	-	NC_000022.11:g.27799309T>C	ExAC,gnomAD
MN1	Q10571	p.Arg413Trp	rs1256775134	missense variant	-	NC_000022.11:g.27799307G>A	gnomAD
MN1	Q10571	p.Glu415Asp	rs1175056378	missense variant	-	NC_000022.11:g.27799299C>A	gnomAD
MN1	Q10571	p.Glu415Ter	rs758146952	stop gained	-	NC_000022.11:g.27799301C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Glu415Val	rs752339866	missense variant	-	NC_000022.11:g.27799300T>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asn416Ser	rs779427634	missense variant	-	NC_000022.11:g.27799297T>C	ExAC,gnomAD
MN1	Q10571	p.Arg417Gly	rs755462103	missense variant	-	NC_000022.11:g.27799295G>C	ExAC,gnomAD
MN1	Q10571	p.Arg417Gln	rs1324941255	missense variant	-	NC_000022.11:g.27799294C>T	TOPMed,gnomAD
MN1	Q10571	p.Ser418Arg	rs754207040	missense variant	-	NC_000022.11:g.27799292T>G	ExAC,gnomAD
MN1	Q10571	p.Met419Arg	rs1396583416	missense variant	-	NC_000022.11:g.27799288A>C	gnomAD
MN1	Q10571	p.Met419Lys	rs1396583416	missense variant	-	NC_000022.11:g.27799288A>T	gnomAD
MN1	Q10571	p.His420Asp	rs766833734	missense variant	-	NC_000022.11:g.27799286G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.His420Tyr	rs766833734	missense variant	-	NC_000022.11:g.27799286G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro421Leu	rs1270418121	missense variant	-	NC_000022.11:g.27799282G>A	TOPMed
MN1	Q10571	p.Pro421Ser	rs1251099459	missense variant	-	NC_000022.11:g.27799283G>A	TOPMed,gnomAD
MN1	Q10571	p.Ser423Phe	rs1373664139	missense variant	-	NC_000022.11:g.27799276G>A	gnomAD
MN1	Q10571	p.Glu424Lys	rs750490054	missense variant	-	NC_000022.11:g.27799274C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Glu424Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799273T>C	NCI-TCGA
MN1	Q10571	p.His431Gln	rs762023186	missense variant	-	NC_000022.11:g.27799251A>C	ExAC,gnomAD
MN1	Q10571	p.His431Tyr	rs767524875	missense variant	-	NC_000022.11:g.27799253G>A	ExAC,gnomAD
MN1	Q10571	p.Pro432His	rs774620804	missense variant	-	NC_000022.11:g.27799249G>T	ExAC,gnomAD
MN1	Q10571	p.Pro433Ser	rs764284425	missense variant	-	NC_000022.11:g.27799247G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro433Ala	rs764284425	missense variant	-	NC_000022.11:g.27799247G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro434Leu	rs1340710132	missense variant	-	NC_000022.11:g.27799243G>A	gnomAD
MN1	Q10571	p.Gln435Lys	rs759302025	missense variant	-	NC_000022.11:g.27799241G>T	ExAC,gnomAD
MN1	Q10571	p.Gln435His	rs1229031654	missense variant	-	NC_000022.11:g.27799239C>G	gnomAD
MN1	Q10571	p.Ala437Val	rs1310055842	missense variant	-	NC_000022.11:g.27799234G>A	gnomAD
MN1	Q10571	p.Asn439Ser	rs770809748	missense variant	-	NC_000022.11:g.27799228T>C	ExAC,gnomAD
MN1	Q10571	p.Gln440Lys	rs746919150	missense variant	-	NC_000022.11:g.27799226G>T	ExAC,gnomAD
MN1	Q10571	p.Gln440His	rs1258431608	missense variant	-	NC_000022.11:g.27799224C>G	TOPMed
MN1	Q10571	p.Gln440Glu	rs746919150	missense variant	-	NC_000022.11:g.27799226G>C	ExAC,gnomAD
MN1	Q10571	p.Asp446Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799208C>T	NCI-TCGA
MN1	Q10571	p.Asp446Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799208C>A	NCI-TCGA
MN1	Q10571	p.Ala447Thr	rs1464657331	missense variant	-	NC_000022.11:g.27799205C>T	gnomAD
MN1	Q10571	p.Ala447Glu	rs375740551	missense variant	-	NC_000022.11:g.27799204G>T	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro448Ala	rs1455757896	missense variant	-	NC_000022.11:g.27799202G>C	gnomAD
MN1	Q10571	p.Pro448Thr	rs1455757896	missense variant	-	NC_000022.11:g.27799202G>T	gnomAD
MN1	Q10571	p.Pro449Leu	rs543407693	missense variant	-	NC_000022.11:g.27799198G>A	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro449Arg	rs543407693	missense variant	-	NC_000022.11:g.27799198G>C	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro449His	rs543407693	missense variant	-	NC_000022.11:g.27799198G>T	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Tyr450Asn	rs1438870643	missense variant	-	NC_000022.11:g.27799196A>T	gnomAD
MN1	Q10571	p.Tyr450Phe	rs371377096	missense variant	-	NC_000022.11:g.27799195T>A	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Tyr450ThrPheSerTerUnk	COSM4702773	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27799197G>-	NCI-TCGA Cosmic
MN1	Q10571	p.Met451Val	rs1197026364	missense variant	-	NC_000022.11:g.27799193T>C	gnomAD
MN1	Q10571	p.Met451Lys	rs1482029681	missense variant	-	NC_000022.11:g.27799192A>T	gnomAD
MN1	Q10571	p.Met451Ile	COSM3553041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799191C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Asn452Lys	rs1389457453	missense variant	-	NC_000022.11:g.27799188G>C	TOPMed
MN1	Q10571	p.Asn452Ser	rs1279004620	missense variant	-	NC_000022.11:g.27799189T>C	gnomAD
MN1	Q10571	p.Val453Glu	rs756590961	missense variant	-	NC_000022.11:g.27799186A>T	ExAC,gnomAD
MN1	Q10571	p.Val453Leu	rs368968399	missense variant	-	NC_000022.11:g.27799187C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Val453Met	rs368968399	missense variant	-	NC_000022.11:g.27799187C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Val453Ala	rs756590961	missense variant	-	NC_000022.11:g.27799186A>G	ExAC,gnomAD
MN1	Q10571	p.Val453Leu	rs368968399	missense variant	-	NC_000022.11:g.27799187C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala454Thr	rs768003794	missense variant	-	NC_000022.11:g.27799184C>T	ExAC,gnomAD
MN1	Q10571	p.Ala454Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799183G>A	NCI-TCGA
MN1	Q10571	p.Arg456Lys	rs1394222981	missense variant	-	NC_000022.11:g.27799177C>T	gnomAD
MN1	Q10571	p.Pro457Leu	rs1374867520	missense variant	-	NC_000022.11:g.27799174G>A	gnomAD
MN1	Q10571	p.Pro457Thr	rs907624224	missense variant	-	NC_000022.11:g.27799175G>T	TOPMed
MN1	Q10571	p.Pro457Gln	rs1374867520	missense variant	-	NC_000022.11:g.27799174G>T	gnomAD
MN1	Q10571	p.Arg458His	COSM1162257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799171C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Pro462Thr	rs760096510	missense variant	-	NC_000022.11:g.27799160G>T	TOPMed,gnomAD
MN1	Q10571	p.Pro462Ser	rs760096510	missense variant	-	NC_000022.11:g.27799160G>A	TOPMed,gnomAD
MN1	Q10571	p.Ala465Gly	rs1185969756	missense variant	-	NC_000022.11:g.27799150G>C	gnomAD
MN1	Q10571	p.Ala465Ser	rs764343495	missense variant	-	NC_000022.11:g.27799151C>A	ExAC
MN1	Q10571	p.Val467Ala	rs763196629	missense variant	-	NC_000022.11:g.27799144A>G	ExAC,gnomAD
MN1	Q10571	p.Val467Gly	rs763196629	missense variant	-	NC_000022.11:g.27799144A>C	ExAC,gnomAD
MN1	Q10571	p.Asp468Val	rs1211027946	missense variant	-	NC_000022.11:g.27799141T>A	gnomAD
MN1	Q10571	p.Asp468Asn	rs1256140328	missense variant	-	NC_000022.11:g.27799142C>T	gnomAD
MN1	Q10571	p.Arg469Pro	rs1366960883	missense variant	-	NC_000022.11:g.27799138C>G	TOPMed
MN1	Q10571	p.Arg469His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799138C>T	NCI-TCGA
MN1	Q10571	p.Ala471Thr	rs1283508995	missense variant	-	NC_000022.11:g.27799133C>T	gnomAD
MN1	Q10571	p.Ser472Leu	COSM1308031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799129G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Gly475Cys	rs1295931631	missense variant	-	NC_000022.11:g.27799121C>A	TOPMed
MN1	Q10571	p.Met477Ile	COSM1415392	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799113C>T	NCI-TCGA Cosmic
MN1	Q10571	p.His478Pro	rs1389889288	missense variant	-	NC_000022.11:g.27799111T>G	gnomAD
MN1	Q10571	p.His478Gln	rs1204326815	missense variant	-	NC_000022.11:g.27799110G>T	gnomAD
MN1	Q10571	p.His478Asn	COSM726031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799112G>T	NCI-TCGA Cosmic
MN1	Q10571	p.Asn479Asp	rs766141595	missense variant	-	NC_000022.11:g.27799109T>C	ExAC,gnomAD
MN1	Q10571	p.Asn479Ser	rs1262282020	missense variant	-	NC_000022.11:g.27799108T>C	gnomAD
MN1	Q10571	p.Gly480Val	rs1342065664	missense variant	-	NC_000022.11:g.27799105C>A	TOPMed
MN1	Q10571	p.Gly480Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799106C>T	NCI-TCGA
MN1	Q10571	p.Ala481Pro	rs1242456786	missense variant	-	NC_000022.11:g.27799103C>G	TOPMed,gnomAD
MN1	Q10571	p.Ala481Thr	rs1242456786	missense variant	-	NC_000022.11:g.27799103C>T	TOPMed,gnomAD
MN1	Q10571	p.Asp483His	rs372510967	missense variant	-	NC_000022.11:g.27799097C>G	ESP,ExAC,gnomAD
MN1	Q10571	p.Asp483Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799097C>T	NCI-TCGA
MN1	Q10571	p.Asn484Asp	rs747699031	missense variant	-	NC_000022.11:g.27799094T>C	ExAC,gnomAD
MN1	Q10571	p.Leu486Phe	rs1317988037	missense variant	-	NC_000022.11:g.27799088G>A	gnomAD
MN1	Q10571	p.Pro488His	rs1387530096	missense variant	-	NC_000022.11:g.27799081G>T	gnomAD
MN1	Q10571	p.Ser489Phe	rs1161856749	missense variant	-	NC_000022.11:g.27799078G>A	gnomAD
MN1	Q10571	p.Ala490Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27799076C>T	NCI-TCGA
MN1	Q10571	p.Pro492Arg	rs1419267334	missense variant	-	NC_000022.11:g.27799069G>C	gnomAD
MN1	Q10571	p.Gly493Asp	rs768215798	missense variant	-	NC_000022.11:g.27799066C>T	ExAC,gnomAD
MN1	Q10571	p.Leu494Val	rs375280383	missense variant	-	NC_000022.11:g.27799064G>C	ESP,TOPMed
MN1	Q10571	p.Pro495Leu	rs180977192	missense variant	-	NC_000022.11:g.27799060G>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Gly496Ser	rs1263535736	missense variant	-	NC_000022.11:g.27799058C>T	gnomAD
MN1	Q10571	p.Gly496Asp	COSM726032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799057C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Phe498Val	rs1334044627	missense variant	-	NC_000022.11:g.27799052A>C	gnomAD
MN1	Q10571	p.Phe498Ile	rs1334044627	missense variant	-	NC_000022.11:g.27799052A>T	gnomAD
MN1	Q10571	p.Thr499Arg	rs746216271	missense variant	-	NC_000022.11:g.27799048G>C	ExAC,gnomAD
MN1	Q10571	p.Thr499Ile	rs746216271	missense variant	-	NC_000022.11:g.27799048G>A	ExAC,gnomAD
MN1	Q10571	p.Pro500Leu	rs376469878	missense variant	-	NC_000022.11:g.27799045G>A	ESP,ExAC,gnomAD
MN1	Q10571	p.Pro501Arg	rs1431698444	missense variant	-	NC_000022.11:g.27799042G>C	gnomAD
MN1	Q10571	p.Pro501His	rs1431698444	missense variant	-	NC_000022.11:g.27799042G>T	gnomAD
MN1	Q10571	p.Pro501Ser	rs200239973	missense variant	-	NC_000022.11:g.27799043G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Val502Ala	rs1328460107	missense variant	-	NC_000022.11:g.27799039A>G	gnomAD
MN1	Q10571	p.Pro503His	rs758566582	missense variant	-	NC_000022.11:g.27799036G>T	ExAC,gnomAD
MN1	Q10571	p.Asp504Asn	rs1200844687	missense variant	-	NC_000022.11:g.27799034C>T	TOPMed
MN1	Q10571	p.Ser505Arg	rs1395848975	missense variant	-	NC_000022.11:g.27799031T>G	gnomAD
MN1	Q10571	p.Phe506Ile	rs1167644434	missense variant	-	NC_000022.11:g.27799028A>T	gnomAD
MN1	Q10571	p.Pro507Leu	rs370131609	missense variant	-	NC_000022.11:g.27799024G>A	ESP,ExAC,gnomAD
MN1	Q10571	p.Ser508Leu	rs765373379	missense variant	-	NC_000022.11:g.27799021G>A	ExAC,gnomAD
MN1	Q10571	p.Gly509Arg	rs750223477	missense variant	-	NC_000022.11:g.27799019C>T	ExAC,gnomAD
MN1	Q10571	p.Gly509Glu	rs1465077970	missense variant	-	NC_000022.11:g.27799018C>T	TOPMed
MN1	Q10571	p.Pro510Leu	rs1191503753	missense variant	-	NC_000022.11:g.27799015G>A	TOPMed,gnomAD
MN1	Q10571	p.His514Asp	rs1457319768	missense variant	-	NC_000022.11:g.27799004G>C	gnomAD
MN1	Q10571	p.Pro515Ser	rs767593022	missense variant	-	NC_000022.11:g.27799001G>A	ExAC,gnomAD
MN1	Q10571	p.Pro515Leu	rs761791661	missense variant	-	NC_000022.11:g.27799000G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro517Leu	rs768144174	missense variant	-	NC_000022.11:g.27798994G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro517Arg	rs768144174	missense variant	-	NC_000022.11:g.27798994G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.His519Gln	rs762361626	missense variant	-	NC_000022.11:g.27798987G>C	ExAC,gnomAD
MN1	Q10571	p.Gln520Ter	rs1341715257	stop gained	-	NC_000022.11:g.27798986G>A	gnomAD
MN1	Q10571	p.Ser521Cys	rs1329898903	missense variant	-	NC_000022.11:g.27798982G>C	TOPMed
MN1	Q10571	p.Leu522Gln	rs769307303	missense variant	-	NC_000022.11:g.27798979A>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln523Pro	rs1328372805	missense variant	-	NC_000022.11:g.27798976T>G	gnomAD
MN1	Q10571	p.Gln523Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27798976T>C	NCI-TCGA
MN1	Q10571	p.Gln526Arg	rs747461263	missense variant	-	NC_000022.11:g.27798967T>C	ExAC,gnomAD
MN1	Q10571	p.Gln530Leu	rs1421204936	missense variant	-	NC_000022.11:g.27798955T>A	gnomAD
MN1	Q10571	p.Gln534His	COSM1415390	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798942C>A	NCI-TCGA Cosmic
MN1	Q10571	p.Gln535Pro	rs1468512844	missense variant	-	NC_000022.11:g.27798940T>G	gnomAD
MN1	Q10571	p.Gln535Ter	rs1180876503	stop gained	-	NC_000022.11:g.27798941G>A	TOPMed
MN1	Q10571	p.Gln539Pro	rs755210327	missense variant	-	NC_000022.11:g.27798928T>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln543Ter	rs1278300199	stop gained	-	NC_000022.11:g.27798917G>A	gnomAD
MN1	Q10571	p.Gln545Leu	rs750264301	missense variant	-	NC_000022.11:g.27798910T>A	ExAC,gnomAD
MN1	Q10571	p.Gln549Lys	rs974447268	missense variant	-	NC_000022.11:g.27798899G>T	TOPMed,gnomAD
MN1	Q10571	p.Gln550Arg	rs970567987	missense variant	-	NC_000022.11:g.27798895T>C	TOPMed,gnomAD
MN1	Q10571	p.Arg551His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27798892C>T	NCI-TCGA
MN1	Q10571	p.Gln552Pro	rs1355718316	missense variant	-	NC_000022.11:g.27798889T>G	gnomAD
MN1	Q10571	p.Ala554Gly	rs1310572906	missense variant	-	NC_000022.11:g.27798883G>C	gnomAD
MN1	Q10571	p.Ala554Val	rs1310572906	missense variant	-	NC_000022.11:g.27798883G>A	gnomAD
MN1	Q10571	p.Ala555Ser	rs751577015	missense variant	-	NC_000022.11:g.27798881C>A	ExAC,gnomAD
MN1	Q10571	p.Ala555Thr	rs751577015	missense variant	-	NC_000022.11:g.27798881C>T	ExAC,gnomAD
MN1	Q10571	p.Leu556Pro	rs1426520717	missense variant	-	NC_000022.11:g.27798877A>G	TOPMed
MN1	Q10571	p.Leu556Ile	rs1375729564	missense variant	-	NC_000022.11:g.27798878G>T	gnomAD
MN1	Q10571	p.Ser563Leu	rs763921294	missense variant	-	NC_000022.11:g.27798856G>A	ExAC
MN1	Q10571	p.Arg564Gln	rs1406983495	missense variant	-	NC_000022.11:g.27798853C>T	gnomAD
MN1	Q10571	p.Asn565Ser	rs1471131849	missense variant	-	NC_000022.11:g.27798850T>C	gnomAD
MN1	Q10571	p.Asn565Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27798850T>G	NCI-TCGA
MN1	Q10571	p.Arg569Gln	rs1187361029	missense variant	-	NC_000022.11:g.27798838C>T	gnomAD
MN1	Q10571	p.Arg569Trp	COSM1033027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798839G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Arg571Cys	rs1486109355	missense variant	-	NC_000022.11:g.27798833G>A	gnomAD
MN1	Q10571	p.Arg571His	rs1282809542	missense variant	-	NC_000022.11:g.27798832C>T	gnomAD
MN1	Q10571	p.Arg571Leu	rs1282809542	missense variant	-	NC_000022.11:g.27798832C>A	gnomAD
MN1	Q10571	p.Pro573Thr	rs1390275283	missense variant	-	NC_000022.11:g.27798827G>T	gnomAD
MN1	Q10571	p.Leu575Val	rs1316633559	missense variant	-	NC_000022.11:g.27798821G>C	gnomAD
MN1	Q10571	p.Leu575Pro	rs1458025954	missense variant	-	NC_000022.11:g.27798820A>G	TOPMed
MN1	Q10571	p.His580Pro	rs1285413526	missense variant	-	NC_000022.11:g.27798805T>G	gnomAD
MN1	Q10571	p.His580Gln	rs915506533	missense variant	-	NC_000022.11:g.27798804G>T	TOPMed,gnomAD
MN1	Q10571	p.Gly582Trp	rs1225930353	missense variant	-	NC_000022.11:g.27798800C>A	gnomAD
MN1	Q10571	p.Asp583Glu	rs959901947	missense variant	-	NC_000022.11:g.27798795G>C	TOPMed,gnomAD
MN1	Q10571	p.Val584Met	rs762570901	missense variant	-	NC_000022.11:g.27798794C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln586His	rs1329427475	missense variant	-	NC_000022.11:g.27798786C>G	TOPMed
MN1	Q10571	p.Gly588Ser	rs1344335091	missense variant	-	NC_000022.11:g.27798782C>T	gnomAD
MN1	Q10571	p.Leu589Pro	rs1031194144	missense variant	-	NC_000022.11:g.27798778A>G	TOPMed,gnomAD
MN1	Q10571	p.Gly592Ser	rs993380596	missense variant	-	NC_000022.11:g.27798770C>T	gnomAD
MN1	Q10571	p.Gly593Ser	rs774828320	missense variant	-	NC_000022.11:g.27798767C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro594Leu	rs1259709767	missense variant	-	NC_000022.11:g.27798763G>A	TOPMed,gnomAD
MN1	Q10571	p.Val595Met	rs45473596	missense variant	-	NC_000022.11:g.27798761C>T	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly596Ala	rs776996702	missense variant	-	NC_000022.11:g.27798757C>G	ExAC,gnomAD
MN1	Q10571	p.Gly597Ser	rs1333315317	missense variant	-	NC_000022.11:g.27798755C>T	gnomAD
MN1	Q10571	p.Pro601Gln	rs1234440747	missense variant	-	NC_000022.11:g.27798742G>T	gnomAD
MN1	Q10571	p.Pro601Leu	rs1234440747	missense variant	-	NC_000022.11:g.27798742G>A	gnomAD
MN1	Q10571	p.Asn602Ile	rs1314274269	missense variant	-	NC_000022.11:g.27798739T>A	gnomAD
MN1	Q10571	p.Arg605Cys	rs1380128902	missense variant	-	NC_000022.11:g.27798731G>A	gnomAD
MN1	Q10571	p.Arg605His	rs747370551	missense variant	-	NC_000022.11:g.27798730C>T	ExAC,gnomAD
MN1	Q10571	p.Glu606Lys	rs1437082876	missense variant	-	NC_000022.11:g.27798728C>T	gnomAD
MN1	Q10571	p.Gly608Val	rs376119570	missense variant	-	NC_000022.11:g.27798721C>A	ESP,TOPMed,gnomAD
MN1	Q10571	p.Ser609Gly	rs1168469951	missense variant	-	NC_000022.11:g.27798719T>C	gnomAD
MN1	Q10571	p.Thr610Ser	rs1456482916	missense variant	-	NC_000022.11:g.27798716T>A	TOPMed
MN1	Q10571	p.Gly611Cys	rs778402442	missense variant	-	NC_000022.11:g.27798713C>A	ExAC,gnomAD
MN1	Q10571	p.Gly611Asp	rs901375990	missense variant	-	NC_000022.11:g.27798712C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly613Arg	rs1214809970	missense variant	-	NC_000022.11:g.27798707C>T	gnomAD
MN1	Q10571	p.Gly613Arg	rs1214809970	missense variant	-	NC_000022.11:g.27798707C>G	gnomAD
MN1	Q10571	p.Arg614Leu	rs772438176	missense variant	-	NC_000022.11:g.27798703C>A	ExAC,gnomAD
MN1	Q10571	p.Arg614Ser	rs1266663919	missense variant	-	NC_000022.11:g.27798704G>T	gnomAD
MN1	Q10571	p.Leu615Val	rs899142701	missense variant	-	NC_000022.11:g.27798701G>C	TOPMed,gnomAD
MN1	Q10571	p.Gly616Val	rs1295933389	missense variant	-	NC_000022.11:g.27798697C>A	gnomAD
MN1	Q10571	p.Gly616Asp	rs1295933389	missense variant	-	NC_000022.11:g.27798697C>T	gnomAD
MN1	Q10571	p.Thr617Ile	rs1230169529	missense variant	-	NC_000022.11:g.27798694G>A	gnomAD
MN1	Q10571	p.Phe618Tyr	rs778808295	missense variant	-	NC_000022.11:g.27798691A>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Phe618Leu	rs529726950	missense variant	-	NC_000022.11:g.27798690G>T	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Phe618Cys	rs778808295	missense variant	-	NC_000022.11:g.27798691A>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Phe618Leu	rs529726950	missense variant	-	NC_000022.11:g.27798690G>C	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Glu619Lys	rs1392849225	missense variant	-	NC_000022.11:g.27798689C>T	gnomAD
MN1	Q10571	p.Gln621Arg	rs1286033506	missense variant	-	NC_000022.11:g.27798682T>C	TOPMed
MN1	Q10571	p.Ala622Val	rs754046360	missense variant	-	NC_000022.11:g.27798679G>A	ExAC,gnomAD
MN1	Q10571	p.Pro623Arg	rs1170653052	missense variant	-	NC_000022.11:g.27798676G>C	gnomAD
MN1	Q10571	p.Pro623Thr	rs780418398	missense variant	-	NC_000022.11:g.27798677G>T	ExAC,gnomAD
MN1	Q10571	p.Leu625Val	rs1194696037	missense variant	-	NC_000022.11:g.27798671A>C	gnomAD
MN1	Q10571	p.Glu628Lys	rs1193567819	missense variant	-	NC_000022.11:g.27798662C>T	gnomAD
MN1	Q10571	p.Glu628Asp	rs758226718	missense variant	-	NC_000022.11:g.27798660C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Trp631Arg	rs1206798235	missense variant	-	NC_000022.11:g.27798653A>G	gnomAD
MN1	Q10571	p.Trp631Cys	rs1268827844	missense variant	-	NC_000022.11:g.27798651C>A	TOPMed
MN1	Q10571	p.Trp631Ter	rs1345250108	stop gained	-	NC_000022.11:g.27798652C>T	gnomAD
MN1	Q10571	p.Gly634Val	rs1184490778	missense variant	-	NC_000022.11:g.27798643C>A	TOPMed
MN1	Q10571	p.Gly634Arg	rs764672151	missense variant	-	NC_000022.11:g.27798644C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly634Ser	rs764672151	missense variant	-	NC_000022.11:g.27798644C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro635Gln	rs184710088	missense variant	-	NC_000022.11:g.27798640G>T	1000Genomes
MN1	Q10571	p.His636Arg	rs1234684622	missense variant	-	NC_000022.11:g.27798637T>C	TOPMed,gnomAD
MN1	Q10571	p.Pro637Leu	rs1332768927	missense variant	-	NC_000022.11:g.27798634G>A	TOPMed,gnomAD
MN1	Q10571	p.Pro637Gln	rs1332768927	missense variant	-	NC_000022.11:g.27798634G>T	TOPMed,gnomAD
MN1	Q10571	p.Pro638Gln	rs1304875011	missense variant	-	NC_000022.11:g.27798631G>T	gnomAD
MN1	Q10571	p.Pro638Ala	rs1415615852	missense variant	-	NC_000022.11:g.27798632G>C	TOPMed
MN1	Q10571	p.Pro639Leu	rs1374212365	missense variant	-	NC_000022.11:g.27798628G>A	TOPMed,gnomAD
MN1	Q10571	p.Gly640Arg	rs759194922	missense variant	-	NC_000022.11:g.27798626C>T	ExAC,gnomAD
MN1	Q10571	p.Pro644His	rs766003256	missense variant	-	NC_000022.11:g.27798613G>T	ExAC
MN1	Q10571	p.Pro644Thr	rs1411102990	missense variant	-	NC_000022.11:g.27798614G>T	TOPMed
MN1	Q10571	p.Arg645Gly	rs761152707	missense variant	-	NC_000022.11:g.27798611G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg645Cys	rs761152707	missense variant	-	NC_000022.11:g.27798611G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg645Leu	rs773420792	missense variant	-	NC_000022.11:g.27798610C>A	ExAC,gnomAD
MN1	Q10571	p.Arg646Ser	rs774492680	missense variant	-	NC_000022.11:g.27798606C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg646Thr	rs748544919	missense variant	-	NC_000022.11:g.27798607C>G	ExAC,gnomAD
MN1	Q10571	p.Arg646Lys	rs748544919	missense variant	-	NC_000022.11:g.27798607C>T	ExAC,gnomAD
MN1	Q10571	p.Gly648Ser	rs1250662631	missense variant	-	NC_000022.11:g.27798602C>T	gnomAD
MN1	Q10571	p.Gly649Ser	rs1484496351	missense variant	-	NC_000022.11:g.27798599C>T	gnomAD
MN1	Q10571	p.Ser650Leu	rs1211157447	missense variant	-	NC_000022.11:g.27798595G>A	gnomAD
MN1	Q10571	p.Pro653Ala	rs756370971	missense variant	-	NC_000022.11:g.27798587G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala654Thr	rs1485554524	missense variant	-	NC_000022.11:g.27798584C>T	gnomAD
MN1	Q10571	p.Cys656Ser	rs777385399	missense variant	-	NC_000022.11:g.27798577C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Cys656Gly	rs746849682	missense variant	-	NC_000022.11:g.27798578A>C	ExAC,gnomAD
MN1	Q10571	p.Gly657Ala	rs1313788642	missense variant	-	NC_000022.11:g.27798574C>G	gnomAD
MN1	Q10571	p.Pro658Leu	rs1249619713	missense variant	-	NC_000022.11:g.27798571G>A	TOPMed
MN1	Q10571	p.Pro661Leu	rs541205461	missense variant	-	NC_000022.11:g.27798562G>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Pro665Leu	rs766060759	missense variant	-	NC_000022.11:g.27798550G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro666Thr	rs760207442	missense variant	-	NC_000022.11:g.27798548G>T	ExAC,gnomAD
MN1	Q10571	p.Pro666LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27798547G>-	NCI-TCGA
MN1	Q10571	p.Pro668Leu	rs201191310	missense variant	-	NC_000022.11:g.27798541G>A	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro669Ser	rs1259438663	missense variant	-	NC_000022.11:g.27798539G>A	gnomAD
MN1	Q10571	p.Pro669Arg	rs1204277623	missense variant	-	NC_000022.11:g.27798538G>C	gnomAD
MN1	Q10571	p.Ser672Leu	rs200288788	missense variant	-	NC_000022.11:g.27798529G>A	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Leu675Val	rs45542935	missense variant	-	NC_000022.11:g.27798521G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg677Gln	rs769259121	missense variant	-	NC_000022.11:g.27798514C>T	ExAC,gnomAD
MN1	Q10571	p.Gln681Lys	rs1318097548	missense variant	-	NC_000022.11:g.27798503G>T	gnomAD
MN1	Q10571	p.Gln681Pro	rs1383068951	missense variant	-	NC_000022.11:g.27798502T>G	gnomAD
MN1	Q10571	p.Pro683Arg	rs746022602	missense variant	-	NC_000022.11:g.27798496G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro683Leu	rs746022602	missense variant	-	NC_000022.11:g.27798496G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Met684Thr	rs1461361942	missense variant	-	NC_000022.11:g.27798493A>G	TOPMed,gnomAD
MN1	Q10571	p.Arg685Gly	rs532714157	missense variant	-	NC_000022.11:g.27798491T>C	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg685Lys	rs758198222	missense variant	-	NC_000022.11:g.27798490C>T	ExAC,gnomAD
MN1	Q10571	p.Met686Ile	rs565227821	missense variant	-	NC_000022.11:g.27798486C>T	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Met686Ile	rs565227821	missense variant	-	NC_000022.11:g.27798486C>A	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro687Ser	rs1192207684	missense variant	-	NC_000022.11:g.27798485G>A	gnomAD
MN1	Q10571	p.Glu689Gly	rs1465233178	missense variant	-	NC_000022.11:g.27798478T>C	gnomAD
MN1	Q10571	p.His691Arg	rs1023688266	missense variant	-	NC_000022.11:g.27798472T>C	TOPMed
MN1	Q10571	p.Val692Met	rs1211792024	missense variant	-	NC_000022.11:g.27798470C>T	TOPMed,gnomAD
MN1	Q10571	p.Pro693Arg	rs1467950542	missense variant	-	NC_000022.11:g.27798466G>C	gnomAD
MN1	Q10571	p.Gly699Ser	rs755794163	missense variant	-	NC_000022.11:g.27798449C>T	ExAC,gnomAD
MN1	Q10571	p.Gly699Cys	rs755794163	missense variant	-	NC_000022.11:g.27798449C>A	ExAC,gnomAD
MN1	Q10571	p.Gly703Ala	rs1367862555	missense variant	-	NC_000022.11:g.27798436C>G	gnomAD
MN1	Q10571	p.Gly703Arg	rs1228417715	missense variant	-	NC_000022.11:g.27798437C>T	gnomAD
MN1	Q10571	p.Gly704Asp	rs750109978	missense variant	-	NC_000022.11:g.27798433C>T	ExAC,gnomAD
MN1	Q10571	p.Gly704Ser	rs1304297860	missense variant	-	NC_000022.11:g.27798434C>T	gnomAD
MN1	Q10571	p.Gly704Val	rs750109978	missense variant	-	NC_000022.11:g.27798433C>A	ExAC,gnomAD
MN1	Q10571	p.Leu706Met	rs1432467365	missense variant	-	NC_000022.11:g.27798428G>T	TOPMed,gnomAD
MN1	Q10571	p.Gly707Arg	rs1323662445	missense variant	-	NC_000022.11:g.27798425C>G	gnomAD
MN1	Q10571	p.Leu709Val	rs1406537364	missense variant	-	NC_000022.11:g.27798419G>C	gnomAD
MN1	Q10571	p.Gln711His	rs767184865	missense variant	-	NC_000022.11:g.27798411C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln713His	rs1375303292	missense variant	-	NC_000022.11:g.27798405C>A	gnomAD
MN1	Q10571	p.Gln713Arg	rs762130242	missense variant	-	NC_000022.11:g.27798406T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser714Leu	rs1391823974	missense variant	-	NC_000022.11:g.27798403G>A	gnomAD
MN1	Q10571	p.Pro715Leu	rs1191471486	missense variant	-	NC_000022.11:g.27798400G>A	gnomAD
MN1	Q10571	p.Pro715Ser	rs1372397089	missense variant	-	NC_000022.11:g.27798401G>A	TOPMed
MN1	Q10571	p.Gly716Arg	rs1247151797	missense variant	-	NC_000022.11:g.27798398C>T	gnomAD
MN1	Q10571	p.Gly716Glu	rs375254416	missense variant	-	NC_000022.11:g.27798397C>T	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala717Thr	rs1436214785	missense variant	-	NC_000022.11:g.27798395C>T	gnomAD
MN1	Q10571	p.Gly718Val	rs1206192890	missense variant	-	NC_000022.11:g.27798391C>A	gnomAD
MN1	Q10571	p.Val719Leu	rs1344541474	missense variant	-	NC_000022.11:g.27798389C>A	gnomAD
MN1	Q10571	p.Val719Ala	rs1427996514	missense variant	-	NC_000022.11:g.27798388A>G	gnomAD
MN1	Q10571	p.Pro722Thr	rs1389908678	missense variant	-	NC_000022.11:g.27798380G>T	TOPMed
MN1	Q10571	p.Ser726Ala	rs1326310235	missense variant	-	NC_000022.11:g.27798368A>C	TOPMed
MN1	Q10571	p.Glu727Asp	rs763502112	missense variant	-	NC_000022.11:g.27798363C>A	ExAC,gnomAD
MN1	Q10571	p.Glu727Lys	rs1333528688	missense variant	-	NC_000022.11:g.27798365C>T	gnomAD
MN1	Q10571	p.Glu727Gly	rs1327565554	missense variant	-	NC_000022.11:g.27798364T>C	gnomAD
MN1	Q10571	p.Arg728Leu	rs775728511	missense variant	-	NC_000022.11:g.27798361C>A	ExAC,gnomAD
MN1	Q10571	p.Arg728His	rs775728511	missense variant	-	NC_000022.11:g.27798361C>T	ExAC,gnomAD
MN1	Q10571	p.Pro730Ser	rs1425598834	missense variant	-	NC_000022.11:g.27798356G>A	gnomAD
MN1	Q10571	p.Pro730Thr	rs1425598834	missense variant	-	NC_000022.11:g.27798356G>T	gnomAD
MN1	Q10571	p.Pro731Ala	rs1276624695	missense variant	-	NC_000022.11:g.27798353G>C	TOPMed
MN1	Q10571	p.Pro732Leu	rs1192904132	missense variant	-	NC_000022.11:g.27798349G>A	TOPMed,gnomAD
MN1	Q10571	p.Asp734Ala	rs1232408624	missense variant	-	NC_000022.11:g.27798343T>G	TOPMed,gnomAD
MN1	Q10571	p.Thr737Lys	rs759661092	missense variant	-	NC_000022.11:g.27798334G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Thr737Ala	rs1484167641	missense variant	-	NC_000022.11:g.27798335T>C	gnomAD
MN1	Q10571	p.Gly741Arg	rs1281141480	missense variant	-	NC_000022.11:g.27798323C>G	gnomAD
MN1	Q10571	p.Gly742Ser	rs1222602066	missense variant	-	NC_000022.11:g.27798320C>T	gnomAD
MN1	Q10571	p.Gln743His	rs747978272	missense variant	-	NC_000022.11:g.27798315C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly745Cys	rs768605323	missense variant	-	NC_000022.11:g.27798311C>A	ExAC,gnomAD
MN1	Q10571	p.Gly745Ser	rs768605323	missense variant	-	NC_000022.11:g.27798311C>T	ExAC,gnomAD
MN1	Q10571	p.Ala750Val	rs1359570250	missense variant	-	NC_000022.11:g.27798295G>A	gnomAD
MN1	Q10571	p.Gly752Cys	rs892182597	missense variant	-	NC_000022.11:g.27798290C>A	TOPMed,gnomAD
MN1	Q10571	p.Gly752Ser	rs892182597	missense variant	-	NC_000022.11:g.27798290C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly752Asp	rs1407090323	missense variant	-	NC_000022.11:g.27798289C>T	gnomAD
MN1	Q10571	p.Arg753Gln	rs999005910	missense variant	-	NC_000022.11:g.27798286C>T	TOPMed,gnomAD
MN1	Q10571	p.Ser755Pro	rs1255476603	missense variant	-	NC_000022.11:g.27798281A>G	gnomAD
MN1	Q10571	p.Ser755Tyr	rs1413667325	missense variant	-	NC_000022.11:g.27798280G>T	TOPMed
MN1	Q10571	p.Thr756Met	rs755637128	missense variant	-	NC_000022.11:g.27798277G>A	ExAC,gnomAD
MN1	Q10571	p.Pro757Leu	rs1214027780	missense variant	-	NC_000022.11:g.27798274G>A	gnomAD
MN1	Q10571	p.His758Leu	rs1287429901	missense variant	-	NC_000022.11:g.27798271T>A	TOPMed
MN1	Q10571	p.His758Tyr	rs1269244143	missense variant	-	NC_000022.11:g.27798272G>A	gnomAD
MN1	Q10571	p.His758Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27798270G>T	NCI-TCGA
MN1	Q10571	p.Ser759Asn	rs1330671939	missense variant	-	NC_000022.11:g.27798268C>T	TOPMed,gnomAD
MN1	Q10571	p.Ser759Arg	rs904678119	missense variant	-	NC_000022.11:g.27798267G>T	gnomAD
MN1	Q10571	p.Gly760Arg	rs1043351855	missense variant	-	NC_000022.11:g.27798266C>G	TOPMed,gnomAD
MN1	Q10571	p.Gly762Asp	rs866112872	missense variant	-	NC_000022.11:g.27798259C>T	gnomAD
MN1	Q10571	p.Gly762Val	rs866112872	missense variant	-	NC_000022.11:g.27798259C>A	gnomAD
MN1	Q10571	p.Val763Leu	rs756889884	missense variant	-	NC_000022.11:g.27798257C>A	ExAC,gnomAD
MN1	Q10571	p.Val763Met	COSM4103226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798257C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Asn764Lys	rs751992136	missense variant	-	NC_000022.11:g.27798252G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro766Ser	rs1458729211	missense variant	-	NC_000022.11:g.27798248G>A	TOPMed,gnomAD
MN1	Q10571	p.Pro767Leu	rs1415818999	missense variant	-	NC_000022.11:g.27798244G>A	gnomAD
MN1	Q10571	p.Ser768Asn	rs1416156163	missense variant	-	NC_000022.11:g.27798241C>T	gnomAD
MN1	Q10571	p.Ala769Thr	rs1475329066	missense variant	-	NC_000022.11:g.27798239C>T	gnomAD
MN1	Q10571	p.Ala769Gly	rs764493322	missense variant	-	NC_000022.11:g.27798238G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly772Ser	rs1294573254	missense variant	-	NC_000022.11:g.27798230C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly772Val	rs1030625906	missense variant	-	NC_000022.11:g.27798229C>A	TOPMed
MN1	Q10571	p.Gly773Asp	rs1467498749	missense variant	-	NC_000022.11:g.27798226C>T	gnomAD
MN1	Q10571	p.Ser775Gly	rs763561368	missense variant	-	NC_000022.11:g.27798221T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser776Phe	COSM3912549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798217G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Gly777Asp	rs753326507	missense variant	-	NC_000022.11:g.27798214C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly779Ser	rs1057018621	missense variant	-	NC_000022.11:g.27798209C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly781Val	rs1364255164	missense variant	-	NC_000022.11:g.27798202C>A	TOPMed,gnomAD
MN1	Q10571	p.Gly781Ala	rs1364255164	missense variant	-	NC_000022.11:g.27798202C>G	TOPMed,gnomAD
MN1	Q10571	p.Gly782Val	rs776741937	missense variant	-	NC_000022.11:g.27798199C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly782Glu	rs776741937	missense variant	-	NC_000022.11:g.27798199C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly782Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27798200C>T	NCI-TCGA
MN1	Q10571	p.Gly783Arg	rs892879086	missense variant	-	NC_000022.11:g.27798197C>G	TOPMed,gnomAD
MN1	Q10571	p.Gly783Asp	rs372652185	missense variant	-	NC_000022.11:g.27798196C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly783Val	rs372652185	missense variant	-	NC_000022.11:g.27798196C>A	TOPMed,gnomAD
MN1	Q10571	p.Ala784Thr	rs919314477	missense variant	-	NC_000022.11:g.27798194C>T	gnomAD
MN1	Q10571	p.Tyr785Ser	rs905331236	missense variant	-	NC_000022.11:g.27798190T>G	gnomAD
MN1	Q10571	p.Tyr785Cys	rs905331236	missense variant	-	NC_000022.11:g.27798190T>C	gnomAD
MN1	Q10571	p.Pro786Thr	rs774134808	missense variant	-	NC_000022.11:g.27798188G>T	ExAC,gnomAD
MN1	Q10571	p.Pro787Leu	rs1190859150	missense variant	-	NC_000022.11:g.27798184G>A	gnomAD
MN1	Q10571	p.Gln788His	rs768504786	missense variant	-	NC_000022.11:g.27798180C>G	ExAC,TOPMed
MN1	Q10571	p.Gln788Leu	rs1364209888	missense variant	-	NC_000022.11:g.27798181T>A	TOPMed
MN1	Q10571	p.Phe791Ile	rs1252850630	missense variant	-	NC_000022.11:g.27798173A>T	gnomAD
MN1	Q10571	p.Pro793Thr	rs769735331	missense variant	-	NC_000022.11:g.27798167G>T	ExAC,gnomAD
MN1	Q10571	p.Gln795Lys	rs780701186	missense variant	-	NC_000022.11:g.27798161G>T	ExAC,gnomAD
MN1	Q10571	p.Arg796His	rs868435747	missense variant	-	NC_000022.11:g.27798157C>T	gnomAD
MN1	Q10571	p.Arg796Ser	rs1340971543	missense variant	-	NC_000022.11:g.27798158G>T	gnomAD
MN1	Q10571	p.Arg796Cys	rs1340971543	missense variant	-	NC_000022.11:g.27798158G>A	gnomAD
MN1	Q10571	p.Thr797Ile	rs1230266680	missense variant	-	NC_000022.11:g.27798154G>A	gnomAD
MN1	Q10571	p.Ser798Ala	rs756980358	missense variant	-	NC_000022.11:g.27798152A>C	ExAC,gnomAD
MN1	Q10571	p.Ser798Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27798151G>A	NCI-TCGA
MN1	Q10571	p.Ala799Val	rs1387262862	missense variant	-	NC_000022.11:g.27798148G>A	gnomAD
MN1	Q10571	p.Ser800Gly	rs777565577	missense variant	-	NC_000022.11:g.27798146T>C	ExAC,TOPMed
MN1	Q10571	p.Ser800Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27798146T>A	NCI-TCGA
MN1	Q10571	p.Leu802Phe	COSM726033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798138C>A	NCI-TCGA Cosmic
MN1	Q10571	p.Ser806Trp	rs934280115	missense variant	-	NC_000022.11:g.27798127G>C	TOPMed
MN1	Q10571	p.Ser806Pro	rs765707963	missense variant	-	NC_000022.11:g.27798128A>G	ExAC,gnomAD
MN1	Q10571	p.Ser806Leu	COSM3553039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798127G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Gly808Ala	COSM6095201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798121C>G	NCI-TCGA Cosmic
MN1	Q10571	p.Ser809Phe	rs753889561	missense variant	-	NC_000022.11:g.27798118G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro813Ala	rs773477405	missense variant	-	NC_000022.11:g.27798107G>C	ExAC,gnomAD
MN1	Q10571	p.Ser814Gly	rs368952908	missense variant	-	NC_000022.11:g.27798104T>C	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser814Cys	rs368952908	missense variant	-	NC_000022.11:g.27798104T>A	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Lys816Arg	rs1345534879	missense variant	-	NC_000022.11:g.27798097T>C	gnomAD
MN1	Q10571	p.Lys816Glu	rs1206845311	missense variant	-	NC_000022.11:g.27798098T>C	gnomAD
MN1	Q10571	p.Asp817Gly	rs775314916	missense variant	-	NC_000022.11:g.27798094T>C	ExAC
MN1	Q10571	p.Asn818Ser	rs1424791155	missense variant	-	NC_000022.11:g.27798091T>C	TOPMed
MN1	Q10571	p.Asn818Lys	rs1255170657	missense variant	-	NC_000022.11:g.27798090G>C	gnomAD
MN1	Q10571	p.Leu819Val	rs1233928604	missense variant	-	NC_000022.11:g.27798089G>C	gnomAD
MN1	Q10571	p.Phe820Leu	rs1313836059	missense variant	-	NC_000022.11:g.27798084G>T	TOPMed,gnomAD
MN1	Q10571	p.Gly821Ser	COSM2935762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798083C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Gln822His	rs769641013	missense variant	-	NC_000022.11:g.27798078C>A	ExAC,gnomAD
MN1	Q10571	p.Gln822Ter	COSM3553038	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27798080G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Cys824Phe	rs1409219109	missense variant	-	NC_000022.11:g.27798073C>A	gnomAD
MN1	Q10571	p.Ala826Asp	rs1413141281	missense variant	-	NC_000022.11:g.27798067G>T	gnomAD
MN1	Q10571	p.Ser829Phe	rs776007987	missense variant	-	NC_000022.11:g.27798058G>A	ExAC,gnomAD
MN1	Q10571	p.Gln833Arg	rs1372550171	missense variant	-	NC_000022.11:g.27798046T>C	TOPMed
MN1	Q10571	p.Asn834Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27798042G>T	NCI-TCGA
MN1	Q10571	p.Asn834Ser	COSM6162043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798043T>C	NCI-TCGA Cosmic
MN1	Q10571	p.Met835Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27798039C>T	NCI-TCGA
MN1	Q10571	p.Ser838Ile	rs746505688	missense variant	-	NC_000022.11:g.27798031C>A	ExAC,gnomAD
MN1	Q10571	p.Ala841Pro	rs1183955186	missense variant	-	NC_000022.11:g.27798023C>G	gnomAD
MN1	Q10571	p.Ala841Val	rs916769338	missense variant	-	NC_000022.11:g.27798022G>A	TOPMed,gnomAD
MN1	Q10571	p.Ala841Asp	rs916769338	missense variant	-	NC_000022.11:g.27798022G>T	TOPMed,gnomAD
MN1	Q10571	p.Ala841ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27798023C>-	NCI-TCGA
MN1	Q10571	p.Asn843Ile	rs758093453	missense variant	-	NC_000022.11:g.27798016T>A	ExAC,gnomAD
MN1	Q10571	p.Asn843Lys	COSM6095202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798015G>T	NCI-TCGA Cosmic
MN1	Q10571	p.Asn845Lys	rs372574119	missense variant	-	NC_000022.11:g.27798009G>T	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asn845Lys	rs372574119	missense variant	-	NC_000022.11:g.27798009G>C	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Val846Ala	rs1397582242	missense variant	-	NC_000022.11:g.27798007A>G	TOPMed
MN1	Q10571	p.Thr847Ser	COSM1033026	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798004G>C	NCI-TCGA Cosmic
MN1	Q10571	p.Asn849Asp	rs779290623	missense variant	-	NC_000022.11:g.27797999T>C	ExAC,gnomAD
MN1	Q10571	p.Asn849Ser	rs1312564293	missense variant	-	NC_000022.11:g.27797998T>C	TOPMed
MN1	Q10571	p.Lys850Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797994C>G	NCI-TCGA
MN1	Q10571	p.Asn852Ser	rs1227699457	missense variant	-	NC_000022.11:g.27797989T>C	TOPMed,gnomAD
MN1	Q10571	p.Asn852His	rs755457164	missense variant	-	NC_000022.11:g.27797990T>G	ExAC,gnomAD
MN1	Q10571	p.Pro853Leu	COSM1415388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797986G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Gly856Asp	rs1335288667	missense variant	-	NC_000022.11:g.27797977C>T	gnomAD
MN1	Q10571	p.Gly856Ser	rs756231606	missense variant	-	NC_000022.11:g.27797978C>T	ExAC,gnomAD
MN1	Q10571	p.Arg858Gly	rs767758045	missense variant	-	NC_000022.11:g.27797972T>C	ExAC,gnomAD
MN1	Q10571	p.Lys859Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797968T>A	NCI-TCGA
MN1	Q10571	p.Asn863Asp	rs181493013	missense variant	-	NC_000022.11:g.27797957T>C	1000Genomes
MN1	Q10571	p.Glu864Gln	rs1458205467	missense variant	-	NC_000022.11:g.27797954C>G	gnomAD
MN1	Q10571	p.Ala868Ser	rs775159668	missense variant	-	NC_000022.11:g.27797942C>A	ExAC,gnomAD
MN1	Q10571	p.Ala871Val	rs776690759	missense variant	-	NC_000022.11:g.27797932G>A	ExAC,gnomAD
MN1	Q10571	p.Ala871Thr	rs759248065	missense variant	-	NC_000022.11:g.27797933C>T	ExAC,gnomAD
MN1	Q10571	p.Gly872Ser	rs1425399383	missense variant	-	NC_000022.11:g.27797930C>T	gnomAD
MN1	Q10571	p.Gly875Val	rs1208074484	missense variant	-	NC_000022.11:g.27797920C>A	gnomAD
MN1	Q10571	p.Ser876Leu	rs1230953219	missense variant	-	NC_000022.11:g.27797917G>A	gnomAD
MN1	Q10571	p.Asp877Gly	rs1203161294	missense variant	-	NC_000022.11:g.27797914T>C	TOPMed
MN1	Q10571	p.Asp877His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797915C>G	NCI-TCGA
MN1	Q10571	p.Phe879Val	rs772812582	missense variant	-	NC_000022.11:g.27797909A>C	ExAC,gnomAD
MN1	Q10571	p.Phe879Leu	rs1211832836	missense variant	-	NC_000022.11:g.27797907G>T	TOPMed,gnomAD
MN1	Q10571	p.Phe879Cys	rs1256248963	missense variant	-	NC_000022.11:g.27797908A>C	TOPMed
MN1	Q10571	p.Gly882Arg	rs909283714	missense variant	-	NC_000022.11:g.27797900C>T	TOPMed
MN1	Q10571	p.Gly882Ala	rs1285075317	missense variant	-	NC_000022.11:g.27797899C>G	gnomAD
MN1	Q10571	p.Pro885His	rs1297278365	missense variant	-	NC_000022.11:g.27797890G>T	gnomAD
MN1	Q10571	p.Ala887Val	rs769120831	missense variant	-	NC_000022.11:g.27797884G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro890Ser	rs1403168094	missense variant	-	NC_000022.11:g.27797876G>A	gnomAD
MN1	Q10571	p.Gly892Cys	rs1043581902	missense variant	-	NC_000022.11:g.27797870C>A	gnomAD
MN1	Q10571	p.Pro893Leu	rs1327241021	missense variant	-	NC_000022.11:g.27797866G>A	gnomAD
MN1	Q10571	p.Thr896Ile	rs1388123659	missense variant	-	NC_000022.11:g.27797857G>A	gnomAD
MN1	Q10571	p.Ser897Cys	rs780575043	missense variant	-	NC_000022.11:g.27797855T>A	ExAC,gnomAD
MN1	Q10571	p.Ser899Thr	rs372371814	missense variant	-	NC_000022.11:g.27797848C>G	ESP,TOPMed,gnomAD
MN1	Q10571	p.Ser899Asn	rs372371814	missense variant	-	NC_000022.11:g.27797848C>T	ESP,TOPMed,gnomAD
MN1	Q10571	p.Gly900Cys	rs1249739326	missense variant	-	NC_000022.11:g.27797846C>A	gnomAD
MN1	Q10571	p.Lys902Arg	rs750523328	missense variant	-	NC_000022.11:g.27797839T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala903Ser	rs894706519	missense variant	-	NC_000022.11:g.27797837C>A	TOPMed,gnomAD
MN1	Q10571	p.Pro906Ser	rs1274394739	missense variant	-	NC_000022.11:g.27797828G>A	gnomAD
MN1	Q10571	p.Asn908Ser	rs1301964310	missense variant	-	NC_000022.11:g.27797821T>C	gnomAD
MN1	Q10571	p.Pro909Ala	rs201879268	missense variant	-	NC_000022.11:g.27797819G>C	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro909Ser	rs201879268	missense variant	-	NC_000022.11:g.27797819G>A	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro909Leu	rs1330045262	missense variant	-	NC_000022.11:g.27797818G>A	gnomAD
MN1	Q10571	p.Pro910Ser	rs759426207	missense variant	-	NC_000022.11:g.27797816G>A	ExAC,gnomAD
MN1	Q10571	p.Ala911Thr	rs753546292	missense variant	-	NC_000022.11:g.27797813C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly913Glu	rs1167730375	missense variant	-	NC_000022.11:g.27797806C>T	gnomAD
MN1	Q10571	p.Gly913Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797807C>T	NCI-TCGA
MN1	Q10571	p.Asp914Tyr	rs1417246959	missense variant	-	NC_000022.11:g.27797804C>A	gnomAD
MN1	Q10571	p.Gly915Asp	rs760644666	missense variant	-	NC_000022.11:g.27797800C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly915Val	rs760644666	missense variant	-	NC_000022.11:g.27797800C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly915Ala	rs760644666	missense variant	-	NC_000022.11:g.27797800C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly915Ser	COSM1308030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797801C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Thr916Ile	rs1313435023	missense variant	-	NC_000022.11:g.27797797G>A	TOPMed
MN1	Q10571	p.Thr916Pro	rs201995779	missense variant	-	NC_000022.11:g.27797798T>G	ExAC,gnomAD
MN1	Q10571	p.Ser917Gly	rs536903439	missense variant	-	NC_000022.11:g.27797795T>C	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Ser917Asn	rs761227164	missense variant	-	NC_000022.11:g.27797794C>T	ExAC,gnomAD
MN1	Q10571	p.Asn921Ser	rs774099251	missense variant	-	NC_000022.11:g.27797782T>C	ExAC,gnomAD
MN1	Q10571	p.Tyr922Cys	rs768158784	missense variant	-	NC_000022.11:g.27797779T>C	ExAC,gnomAD
MN1	Q10571	p.Glu925Lys	rs1206125603	missense variant	-	NC_000022.11:g.27797771C>T	gnomAD
MN1	Q10571	p.Thr927Met	rs1160258084	missense variant	-	NC_000022.11:g.27797764G>A	TOPMed,gnomAD
MN1	Q10571	p.Ser928Leu	rs746306235	missense variant	-	NC_000022.11:g.27797761G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asn930Asp	rs781660944	missense variant	-	NC_000022.11:g.27797756T>C	ExAC,gnomAD
MN1	Q10571	p.Asp931Glu	rs757417594	missense variant	-	NC_000022.11:g.27797751G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly932Ser	rs1348079246	missense variant	-	NC_000022.11:g.27797750C>T	gnomAD
MN1	Q10571	p.Gly932Asp	rs1307088086	missense variant	-	NC_000022.11:g.27797749C>T	gnomAD
MN1	Q10571	p.Lys933Met	rs778097667	missense variant	-	NC_000022.11:g.27797746T>A	ExAC,gnomAD
MN1	Q10571	p.Pro934Leu	rs758509467	missense variant	-	NC_000022.11:g.27797743G>A	ExAC,gnomAD
MN1	Q10571	p.Val935Ile	rs1425710106	missense variant	-	NC_000022.11:g.27797741C>T	gnomAD
MN1	Q10571	p.Gly937Val	rs1471686574	missense variant	-	NC_000022.11:g.27797734C>A	gnomAD
MN1	Q10571	p.Gly939Asp	rs1183221701	missense variant	-	NC_000022.11:g.27797728C>T	gnomAD
MN1	Q10571	p.Arg941Gln	rs750454755	missense variant	-	NC_000022.11:g.27797722C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg941Trp	rs760696011	missense variant	-	NC_000022.11:g.27797723G>A	ExAC,gnomAD
MN1	Q10571	p.Gly942Arg	rs767537756	missense variant	-	NC_000022.11:g.27797720C>T	ExAC,gnomAD
MN1	Q10571	p.Gly942Glu	rs1281429960	missense variant	-	NC_000022.11:g.27797719C>T	gnomAD
MN1	Q10571	p.Arg943Leu	rs1326517949	missense variant	-	NC_000022.11:g.27797716C>A	TOPMed,gnomAD
MN1	Q10571	p.Arg943Gln	rs1326517949	missense variant	-	NC_000022.11:g.27797716C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly944Asp	rs773690882	missense variant	-	NC_000022.11:g.27797713C>T	ExAC,gnomAD
MN1	Q10571	p.Gly944ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27797713C>-	NCI-TCGA
MN1	Q10571	p.Arg945His	rs768373028	missense variant	-	NC_000022.11:g.27797710C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg945Leu	rs768373028	missense variant	-	NC_000022.11:g.27797710C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg945Cys	rs1228656383	missense variant	-	NC_000022.11:g.27797711G>A	TOPMed,gnomAD
MN1	Q10571	p.Arg946Ser	rs762455386	missense variant	-	NC_000022.11:g.27797706T>G	ExAC,gnomAD
MN1	Q10571	p.Arg948GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27797702T>-	NCI-TCGA
MN1	Q10571	p.Asp949Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797699C>T	NCI-TCGA
MN1	Q10571	p.Ser950Thr	rs775835704	missense variant	-	NC_000022.11:g.27797695C>G	ExAC,gnomAD
MN1	Q10571	p.Gly951Ser	rs1457593854	missense variant	-	NC_000022.11:g.27797693C>T	TOPMed
MN1	Q10571	p.Val953Met	rs746216450	missense variant	-	NC_000022.11:g.27797687C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro955His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797680G>T	NCI-TCGA
MN1	Q10571	p.Gly956Asp	rs747144553	missense variant	-	NC_000022.11:g.27797677C>T	ExAC,gnomAD
MN1	Q10571	p.Gly956Val	rs747144553	missense variant	-	NC_000022.11:g.27797677C>A	ExAC,gnomAD
MN1	Q10571	p.Thr957Asn	rs1411814443	missense variant	-	NC_000022.11:g.27797674G>T	gnomAD
MN1	Q10571	p.Phe958Leu	rs1473362743	missense variant	-	NC_000022.11:g.27797672A>G	gnomAD
MN1	Q10571	p.Asp960Tyr	rs1361891934	missense variant	-	NC_000022.11:g.27797666C>A	gnomAD
MN1	Q10571	p.Lys961Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797661C>A	NCI-TCGA
MN1	Q10571	p.Ser963Ala	rs756034616	missense variant	-	NC_000022.11:g.27797657A>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser963Trp	rs750209523	missense variant	-	NC_000022.11:g.27797656G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala964Glu	rs751093810	missense variant	-	NC_000022.11:g.27797653G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala964Val	rs751093810	missense variant	-	NC_000022.11:g.27797653G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala965Thr	rs1286869831	missense variant	-	NC_000022.11:g.27797651C>T	TOPMed
MN1	Q10571	p.Pro966Leu	rs536374258	missense variant	-	NC_000022.11:g.27797647G>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Pro966Arg	rs536374258	missense variant	-	NC_000022.11:g.27797647G>C	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Pro966Ser	COSM1165420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797648G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Asp967Asn	rs1379678156	missense variant	-	NC_000022.11:g.27797645C>T	gnomAD
MN1	Q10571	p.Ser968Gly	rs775180687	missense variant	-	NC_000022.11:g.27797642T>C	ExAC,gnomAD
MN1	Q10571	p.Gly969Glu	rs759936263	missense variant	-	NC_000022.11:g.27797638C>T	ExAC,gnomAD
MN1	Q10571	p.Gly969Arg	rs764848708	missense variant	-	NC_000022.11:g.27797639C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly970Asp	rs998544458	missense variant	-	NC_000022.11:g.27797635C>T	TOPMed,gnomAD
MN1	Q10571	p.Ala971Thr	rs771492839	missense variant	-	NC_000022.11:g.27797633C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro972Ser	rs1164406783	missense variant	-	NC_000022.11:g.27797630G>A	gnomAD
MN1	Q10571	p.Pro972Arg	rs747420770	missense variant	-	NC_000022.11:g.27797629G>C	ExAC
MN1	Q10571	p.Gln979Glu	rs748228697	missense variant	-	NC_000022.11:g.27797609G>C	ExAC,gnomAD
MN1	Q10571	p.Ala981Thr	rs201376459	missense variant	-	NC_000022.11:g.27797603C>T	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Ala981Ser	rs201376459	missense variant	-	NC_000022.11:g.27797603C>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Ala981Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797602G>C	NCI-TCGA
MN1	Q10571	p.Gly983Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797596C>A	NCI-TCGA
MN1	Q10571	p.Ala984Thr	rs1263136065	missense variant	-	NC_000022.11:g.27797594C>T	TOPMed,gnomAD
MN1	Q10571	p.Ala984Ser	rs1263136065	missense variant	-	NC_000022.11:g.27797594C>A	TOPMed,gnomAD
MN1	Q10571	p.Ala985Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797591C>T	NCI-TCGA
MN1	Q10571	p.Gly987Arg	rs1293691250	missense variant	-	NC_000022.11:g.27797585C>T	gnomAD
MN1	Q10571	p.Gly987Arg	rs1293691250	missense variant	-	NC_000022.11:g.27797585C>G	gnomAD
MN1	Q10571	p.Gly988Glu	rs1405591173	missense variant	-	NC_000022.11:g.27797581C>T	TOPMed
MN1	Q10571	p.Ala991Thr	rs757223133	missense variant	-	NC_000022.11:g.27797573C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala991Ser	rs757223133	missense variant	-	NC_000022.11:g.27797573C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Glu993Asp	rs1278548772	missense variant	-	NC_000022.11:g.27797565C>G	gnomAD
MN1	Q10571	p.Thr994Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797564T>C	NCI-TCGA
MN1	Q10571	p.Arg995Cys	rs1383826053	missense variant	-	NC_000022.11:g.27797561G>A	gnomAD
MN1	Q10571	p.Ala997Pro	rs764903521	missense variant	-	NC_000022.11:g.27797555C>G	ExAC,gnomAD
MN1	Q10571	p.Ala997Thr	rs764903521	missense variant	-	NC_000022.11:g.27797555C>T	ExAC,gnomAD
MN1	Q10571	p.Pro998Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797551G>A	NCI-TCGA
MN1	Q10571	p.Thr999Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797548G>T	NCI-TCGA
MN1	Q10571	p.Thr999Met	COSM3842375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797548G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Pro1000Thr	rs777067619	missense variant	-	NC_000022.11:g.27797546G>T	ExAC,gnomAD
MN1	Q10571	p.His1001Tyr	rs1167101100	missense variant	-	NC_000022.11:g.27797543G>A	TOPMed,gnomAD
MN1	Q10571	p.Ala1004Gly	rs1171082712	missense variant	-	NC_000022.11:g.27797533G>C	gnomAD
MN1	Q10571	p.Leu1005Phe	rs1264686314	missense variant	-	NC_000022.11:g.27797531G>A	TOPMed,gnomAD
MN1	Q10571	p.Thr1006Met	rs761099998	missense variant	-	NC_000022.11:g.27797527G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro1008Arg	rs773652210	missense variant	-	NC_000022.11:g.27797521G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Trp1010Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797514C>G	NCI-TCGA
MN1	Q10571	p.Gly1011Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797512C>A	NCI-TCGA
MN1	Q10571	p.Lys1012Asn	rs762012343	missense variant	-	NC_000022.11:g.27797508C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1014Ser	rs774520445	missense variant	-	NC_000022.11:g.27797504C>A	ExAC,gnomAD
MN1	Q10571	p.Ala1014Thr	rs774520445	missense variant	-	NC_000022.11:g.27797504C>T	ExAC,gnomAD
MN1	Q10571	p.Glu1015Gln	rs374548289	missense variant	-	NC_000022.11:g.27797501C>G	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly1019Arg	rs780318940	missense variant	-	NC_000022.11:g.27797489C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asp1020Asn	rs968161766	missense variant	-	NC_000022.11:g.27797486C>T	TOPMed,gnomAD
MN1	Q10571	p.Asp1020His	rs968161766	missense variant	-	NC_000022.11:g.27797486C>G	TOPMed,gnomAD
MN1	Q10571	p.Gln1021Pro	rs1306465585	missense variant	-	NC_000022.11:g.27797482T>G	TOPMed,gnomAD
MN1	Q10571	p.Asp1023Asn	rs1319032837	missense variant	-	NC_000022.11:g.27797477C>T	TOPMed,gnomAD
MN1	Q10571	p.Asp1023Gly	rs770687348	missense variant	-	NC_000022.11:g.27797476T>C	ExAC,gnomAD
MN1	Q10571	p.Ile1025Thr	rs201955277	missense variant	-	NC_000022.11:g.27797470A>G	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly1026Arg	rs1300217156	missense variant	-	NC_000022.11:g.27797468C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly1026Glu	rs1464999399	missense variant	-	NC_000022.11:g.27797467C>T	gnomAD
MN1	Q10571	p.Gly1026Trp	rs1300217156	missense variant	-	NC_000022.11:g.27797468C>A	TOPMed,gnomAD
MN1	Q10571	p.Ser1027Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797465A>G	NCI-TCGA
MN1	Q10571	p.Asp1029Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797458T>A	NCI-TCGA
MN1	Q10571	p.Gly1030Ser	rs1480513294	missense variant	-	NC_000022.11:g.27797456C>T	TOPMed,gnomAD
MN1	Q10571	p.Gly1030Asp	COSM4103222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797455C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Gly1031Arg	rs758293540	missense variant	-	NC_000022.11:g.27797453C>T	ExAC,gnomAD
MN1	Q10571	p.Gly1031Val	rs1441952942	missense variant	-	NC_000022.11:g.27797452C>A	TOPMed
MN1	Q10571	p.Lys1033Asn	COSM1033022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797445C>G	NCI-TCGA Cosmic
MN1	Q10571	p.Asp1035Glu	rs376420334	missense variant	-	NC_000022.11:g.27797439G>C	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.SerSer1036SerLysTerUnk	rs745719273	stop gained	-	NC_000022.11:g.27797435_27797438dup	ExAC,gnomAD
MN1	Q10571	p.Ser1037Arg	rs1255407757	missense variant	-	NC_000022.11:g.27797433A>C	TOPMed,gnomAD
MN1	Q10571	p.Ser1038Leu	rs1210709233	missense variant	-	NC_000022.11:g.27797431G>A	gnomAD
MN1	Q10571	p.Pro1039Ser	rs754634034	missense variant	-	NC_000022.11:g.27797429G>A	ExAC,gnomAD
MN1	Q10571	p.Val1041Met	COSM245736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797423C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Ala1045Ser	rs753505376	missense variant	-	NC_000022.11:g.27797411C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asp1047Asn	rs1401932496	missense variant	-	NC_000022.11:g.27797405C>T	gnomAD
MN1	Q10571	p.Asp1047Glu	rs750757950	missense variant	-	NC_000022.11:g.27797403G>C	ExAC,gnomAD
MN1	Q10571	p.Asp1047Gly	rs760997957	missense variant	-	NC_000022.11:g.27797404T>C	ExAC,gnomAD
MN1	Q10571	p.Asp1047Glu	rs750757950	missense variant	-	NC_000022.11:g.27797403G>T	ExAC,gnomAD
MN1	Q10571	p.Glu1048Gln	rs768157927	missense variant	-	NC_000022.11:g.27797402C>G	ExAC,gnomAD
MN1	Q10571	p.Glu1048Lys	COSM135915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797402C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Val1049Leu	rs531873464	missense variant	-	NC_000022.11:g.27797399C>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Ser1050Ile	rs1472065809	missense variant	-	NC_000022.11:g.27797395C>A	gnomAD
MN1	Q10571	p.Ser1050Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797396T>C	NCI-TCGA
MN1	Q10571	p.Ser1050Cys	COSM4921933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797396T>A	NCI-TCGA Cosmic
MN1	Q10571	p.Thr1051Met	rs1183529520	missense variant	-	NC_000022.11:g.27797392G>A	TOPMed,gnomAD
MN1	Q10571	p.Thr1051Ala	rs774573491	missense variant	-	NC_000022.11:g.27797393T>C	ExAC,gnomAD
MN1	Q10571	p.Thr1051Lys	rs1183529520	missense variant	-	NC_000022.11:g.27797392G>T	TOPMed,gnomAD
MN1	Q10571	p.Ser1052Asn	rs768923539	missense variant	-	NC_000022.11:g.27797389C>T	ExAC,gnomAD
MN1	Q10571	p.Tyr1053Cys	rs1255185911	missense variant	-	NC_000022.11:g.27797386T>C	gnomAD
MN1	Q10571	p.Ala1054Ser	rs561366930	missense variant	-	NC_000022.11:g.27797384C>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Ala1054Pro	rs561366930	missense variant	-	NC_000022.11:g.27797384C>G	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Ala1054Thr	rs561366930	missense variant	-	NC_000022.11:g.27797384C>T	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Asn1055Ser	rs746813569	missense variant	-	NC_000022.11:g.27797380T>C	ExAC,gnomAD
MN1	Q10571	p.Glu1056Val	rs1182958912	missense variant	-	NC_000022.11:g.27797377T>A	TOPMed
MN1	Q10571	p.Glu1056Lys	rs1208111987	missense variant	-	NC_000022.11:g.27797378C>T	gnomAD
MN1	Q10571	p.Glu1058Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797372C>T	NCI-TCGA
MN1	Q10571	p.Ser1063Cys	rs1313829375	missense variant	-	NC_000022.11:g.27797356G>C	gnomAD
MN1	Q10571	p.Asp1064Gly	rs777577575	missense variant	-	NC_000022.11:g.27797353T>C	ExAC,gnomAD
MN1	Q10571	p.Asp1064Glu	rs1363567188	missense variant	-	NC_000022.11:g.27797352G>T	gnomAD
MN1	Q10571	p.Pro1066Arg	rs201578856	missense variant	-	NC_000022.11:g.27797347G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro1066Leu	rs201578856	missense variant	-	NC_000022.11:g.27797347G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln1067ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27797344T>-	NCI-TCGA
MN1	Q10571	p.Val1070Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797336C>T	NCI-TCGA
MN1	Q10571	p.Lys1071Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797332T>G	NCI-TCGA
MN1	Q10571	p.Ala1072Glu	rs1159987506	missense variant	-	NC_000022.11:g.27797329G>T	gnomAD
MN1	Q10571	p.Ala1072Gly	rs1159987506	missense variant	-	NC_000022.11:g.27797329G>C	gnomAD
MN1	Q10571	p.Ala1072Pro	rs778822088	missense variant	-	NC_000022.11:g.27797330C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1072Ser	rs778822088	missense variant	-	NC_000022.11:g.27797330C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser1073Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797326C>T	NCI-TCGA
MN1	Q10571	p.Pro1076Thr	rs754544394	missense variant	-	NC_000022.11:g.27797318G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro1076Ser	rs754544394	missense variant	-	NC_000022.11:g.27797318G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly1080Arg	rs377232565	missense variant	-	NC_000022.11:g.27797306C>G	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly1080Ser	rs377232565	missense variant	-	NC_000022.11:g.27797306C>T	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly1080Val	rs750764675	missense variant	-	NC_000022.11:g.27797305C>A	ExAC,gnomAD
MN1	Q10571	p.Ser1081Leu	rs767922686	missense variant	-	NC_000022.11:g.27797302G>A	ExAC,gnomAD
MN1	Q10571	p.Leu1084Arg	rs757688741	missense variant	-	NC_000022.11:g.27797293A>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro1085Ser	rs372767958	missense variant	-	NC_000022.11:g.27797291G>A	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro1086Thr	rs1266414680	missense variant	-	NC_000022.11:g.27797288G>T	gnomAD
MN1	Q10571	p.Arg1087His	rs762981381	missense variant	-	NC_000022.11:g.27797284C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg1087Cys	rs1248533642	missense variant	-	NC_000022.11:g.27797285G>A	gnomAD
MN1	Q10571	p.Gly1088Val	rs775600902	missense variant	-	NC_000022.11:g.27797281C>A	ExAC,gnomAD
MN1	Q10571	p.Val1089Leu	rs765402032	missense variant	-	NC_000022.11:g.27797279C>A	ExAC,gnomAD
MN1	Q10571	p.Gly1090Ser	rs1326543347	missense variant	-	NC_000022.11:g.27797276C>T	gnomAD
MN1	Q10571	p.Gly1090Val	rs1338814997	missense variant	-	NC_000022.11:g.27797275C>A	TOPMed
MN1	Q10571	p.Ala1091Ser	rs1384731005	missense variant	-	NC_000022.11:g.27797273C>A	gnomAD
MN1	Q10571	p.Ala1091Thr	rs1384731005	missense variant	-	NC_000022.11:g.27797273C>T	gnomAD
MN1	Q10571	p.Gly1092Trp	rs771925230	missense variant	-	NC_000022.11:g.27797270C>A	ExAC,gnomAD
MN1	Q10571	p.Gly1092Arg	rs771925230	missense variant	-	NC_000022.11:g.27797270C>T	ExAC,gnomAD
MN1	Q10571	p.Glu1093AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27797267C>-	NCI-TCGA
MN1	Q10571	p.Glu1093AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27797271G>-	NCI-TCGA
MN1	Q10571	p.His1094Gln	rs1045841107	missense variant	-	NC_000022.11:g.27797262G>C	TOPMed,gnomAD
MN1	Q10571	p.His1094Leu	rs1426383077	missense variant	-	NC_000022.11:g.27797263T>A	gnomAD
MN1	Q10571	p.Gly1095Arg	rs1167931662	missense variant	-	NC_000022.11:g.27797261C>T	TOPMed,gnomAD
MN1	Q10571	p.Pro1096Leu	rs200506171	missense variant	-	NC_000022.11:g.27797257G>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Ala1098Thr	rs1451254445	missense variant	-	NC_000022.11:g.27797252C>T	gnomAD
MN1	Q10571	p.Ala1098Val	COSM4103219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797251G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Pro1099Ser	rs560561226	missense variant	-	NC_000022.11:g.27797249G>A	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Pro1099Ala	rs560561226	missense variant	-	NC_000022.11:g.27797249G>C	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Pro1100Leu	rs779556948	missense variant	-	NC_000022.11:g.27797245G>A	ExAC,gnomAD
MN1	Q10571	p.Pro1101Ser	rs1342016323	missense variant	-	NC_000022.11:g.27797243G>A	TOPMed,gnomAD
MN1	Q10571	p.Pro1101Thr	rs1342016323	missense variant	-	NC_000022.11:g.27797243G>T	TOPMed,gnomAD
MN1	Q10571	p.Pro1101Ala	rs1342016323	missense variant	-	NC_000022.11:g.27797243G>C	TOPMed,gnomAD
MN1	Q10571	p.Ala1102Val	rs745596738	missense variant	-	NC_000022.11:g.27797239G>A	ExAC,gnomAD
MN1	Q10571	p.Ala1102Thr	rs369164450	missense variant	-	NC_000022.11:g.27797240C>T	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly1106Val	rs1307124885	missense variant	-	NC_000022.11:g.27797227C>A	gnomAD
MN1	Q10571	p.Gly1106Ala	rs1307124885	missense variant	-	NC_000022.11:g.27797227C>G	gnomAD
MN1	Q10571	p.Ile1107Val	rs1410473880	missense variant	-	NC_000022.11:g.27797225T>C	gnomAD
MN1	Q10571	p.Met1108Thr	rs1421482685	missense variant	-	NC_000022.11:g.27797221A>G	gnomAD
MN1	Q10571	p.Ser1109Pro	rs1372056090	missense variant	-	NC_000022.11:g.27797219A>G	TOPMed
MN1	Q10571	p.Asn1110Asp	rs757745858	missense variant	-	NC_000022.11:g.27797216T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser1111Ala	rs764728321	missense variant	-	NC_000022.11:g.27797213A>C	ExAC,gnomAD
MN1	Q10571	p.Ser1113Ala	COSM3800093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797207A>C	NCI-TCGA Cosmic
MN1	Q10571	p.Ser1113Leu	COSM579816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797206G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Thr1114Ala	rs1232796039	missense variant	-	NC_000022.11:g.27797204T>C	gnomAD
MN1	Q10571	p.Thr1114Ile	rs1201910781	missense variant	-	NC_000022.11:g.27797203G>A	gnomAD
MN1	Q10571	p.Pro1115Thr	rs1471709384	missense variant	-	NC_000022.11:g.27797201G>T	TOPMed,gnomAD
MN1	Q10571	p.Ser1117Asn	rs758891220	missense variant	-	NC_000022.11:g.27797194C>T	ExAC,gnomAD
MN1	Q10571	p.Gly1120Ser	rs1277193009	missense variant	-	NC_000022.11:g.27797186C>T	gnomAD
MN1	Q10571	p.Gly1120Asp	rs1200369016	missense variant	-	NC_000022.11:g.27797185C>T	gnomAD
MN1	Q10571	p.Gly1123Asp	rs759531060	missense variant	-	NC_000022.11:g.27797176C>T	ExAC,gnomAD
MN1	Q10571	p.Gly1123Val	rs759531060	missense variant	-	NC_000022.11:g.27797176C>A	ExAC,gnomAD
MN1	Q10571	p.Pro1124Leu	rs776900381	missense variant	-	NC_000022.11:g.27797173G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly1125Ser	rs1287491905	missense variant	-	NC_000022.11:g.27797171C>T	gnomAD
MN1	Q10571	p.His1126Arg	rs1332168219	missense variant	-	NC_000022.11:g.27797167T>C	gnomAD
MN1	Q10571	p.His1126Asn	rs1356046184	missense variant	-	NC_000022.11:g.27797168G>T	gnomAD
MN1	Q10571	p.Pro1127Leu	rs1413806935	missense variant	-	NC_000022.11:g.27797164G>A	gnomAD
MN1	Q10571	p.Thr1129Ser	rs1178607263	missense variant	-	NC_000022.11:g.27797158G>C	gnomAD
MN1	Q10571	p.Gly1131Ser	rs1411592863	missense variant	-	NC_000022.11:g.27797153C>T	gnomAD
MN1	Q10571	p.Gly1131Asp	rs1047875157	missense variant	-	NC_000022.11:g.27797152C>T	TOPMed,gnomAD
MN1	Q10571	p.Glu1133Lys	rs929410393	missense variant	-	NC_000022.11:g.27797147C>T	TOPMed
MN1	Q10571	p.Arg1136Cys	rs774095981	missense variant	-	NC_000022.11:g.27797138G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg1136Leu	rs1263230031	missense variant	-	NC_000022.11:g.27797137C>A	gnomAD
MN1	Q10571	p.Thr1137Ser	rs768488007	missense variant	-	NC_000022.11:g.27797134G>C	ExAC,gnomAD
MN1	Q10571	p.Pro1138Leu	rs1283185960	missense variant	-	NC_000022.11:g.27797131G>A	gnomAD
MN1	Q10571	p.Thr1139Met	rs749180276	missense variant	-	NC_000022.11:g.27797128G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser1140Asn	rs1268602887	missense variant	-	NC_000022.11:g.27797125C>T	TOPMed
MN1	Q10571	p.Ser1141Asn	rs775280777	missense variant	-	NC_000022.11:g.27797122C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ser1142Arg	rs745348338	missense variant	-	NC_000022.11:g.27797118G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly1143Arg	rs781031487	missense variant	-	NC_000022.11:g.27797117C>G	ExAC,TOPMed
MN1	Q10571	p.Gly1143Ser	rs781031487	missense variant	-	NC_000022.11:g.27797117C>T	ExAC,TOPMed
MN1	Q10571	p.Ala1144Thr	rs1455764061	missense variant	-	NC_000022.11:g.27797114C>T	gnomAD
MN1	Q10571	p.Ala1144Gly	rs756929211	missense variant	-	NC_000022.11:g.27797113G>C	ExAC,gnomAD
MN1	Q10571	p.Pro1145Arg	rs758835992	missense variant	-	NC_000022.11:g.27797110G>C	ExAC,gnomAD
MN1	Q10571	p.Pro1145Ser	rs747401031	missense variant	-	NC_000022.11:g.27797111G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro1145Leu	rs758835992	missense variant	-	NC_000022.11:g.27797110G>A	ExAC,gnomAD
MN1	Q10571	p.Pro1146Ser	rs779278915	missense variant	-	NC_000022.11:g.27797108G>A	ExAC,gnomAD
MN1	Q10571	p.Asp1148Asn	rs755137457	missense variant	-	NC_000022.11:g.27797102C>T	ExAC,gnomAD
MN1	Q10571	p.Glu1149Asp	rs1240981820	missense variant	-	NC_000022.11:g.27797097C>A	gnomAD
MN1	Q10571	p.Glu1149Lys	rs753888505	missense variant	-	NC_000022.11:g.27797099C>T	ExAC,gnomAD
MN1	Q10571	p.Pro1152Thr	rs1318295194	missense variant	-	NC_000022.11:g.27797090G>T	gnomAD
MN1	Q10571	p.Pro1152Leu	rs1266340952	missense variant	-	NC_000022.11:g.27797089G>A	TOPMed
MN1	Q10571	p.Pro1152Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797089G>C	NCI-TCGA
MN1	Q10571	p.Leu1153Pro	rs1364790699	missense variant	-	NC_000022.11:g.27797086A>G	TOPMed
MN1	Q10571	p.Leu1153TrpPheSerTerUnkUnk	COSM1415385	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27797087G>-	NCI-TCGA Cosmic
MN1	Q10571	p.Leu1156Pro	rs1432775869	missense variant	-	NC_000022.11:g.27797077A>G	gnomAD
MN1	Q10571	p.Ala1158Val	rs1361403401	missense variant	-	NC_000022.11:g.27797071G>A	TOPMed,gnomAD
MN1	Q10571	p.Gln1159Glu	rs764014470	missense variant	-	NC_000022.11:g.27797069G>C	ExAC,gnomAD
MN1	Q10571	p.Gln1159Leu	rs1348286073	missense variant	-	NC_000022.11:g.27797068T>A	gnomAD
MN1	Q10571	p.Leu1162Val	rs762639138	missense variant	-	NC_000022.11:g.27797060G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln1163Ter	rs1387441487	stop gained	-	NC_000022.11:g.27797057G>A	gnomAD
MN1	Q10571	p.Gln1163His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27797055C>G	NCI-TCGA
MN1	Q10571	p.Gln1166His	rs1449351379	missense variant	-	NC_000022.11:g.27797046C>A	gnomAD
MN1	Q10571	p.Ser1168Thr	rs769585924	missense variant	-	NC_000022.11:g.27797041C>G	ExAC,gnomAD
MN1	Q10571	p.Ile1169Val	rs1003088874	missense variant	-	NC_000022.11:g.27797039T>C	TOPMed
MN1	Q10571	p.Asp1172Asn	rs1343715583	missense variant	-	NC_000022.11:g.27797030C>T	TOPMed
MN1	Q10571	p.Asp1172Tyr	COSM6162045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797030C>A	NCI-TCGA Cosmic
MN1	Q10571	p.Gln1173Arg	rs776231833	missense variant	-	NC_000022.11:g.27797026T>C	ExAC,gnomAD
MN1	Q10571	p.Gln1173Pro	rs776231833	missense variant	-	NC_000022.11:g.27797026T>G	ExAC,gnomAD
MN1	Q10571	p.Gly1176Arg	rs1221250854	missense variant	-	NC_000022.11:g.27797018C>T	gnomAD
MN1	Q10571	p.Gly1176Glu	rs770721124	missense variant	-	NC_000022.11:g.27797017C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Leu1177Arg	rs777289071	missense variant	-	NC_000022.11:g.27797014A>C	ExAC,gnomAD
MN1	Q10571	p.Leu1177Met	rs1226122672	missense variant	-	NC_000022.11:g.27797015G>T	gnomAD
MN1	Q10571	p.Lys1178Asn	rs772547139	missense variant	-	NC_000022.11:g.27797010C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Lys1182Glu	rs748442678	missense variant	-	NC_000022.11:g.27797000T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Glu1184Gln	rs45589739	missense variant	-	NC_000022.11:g.27796994C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1186Gly	rs1490039052	missense variant	-	NC_000022.11:g.27796987G>C	TOPMed
MN1	Q10571	p.Ala1186Pro	rs753939819	missense variant	-	NC_000022.11:g.27796988C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1186Thr	rs753939819	missense variant	-	NC_000022.11:g.27796988C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gly1188Arg	rs1461930903	missense variant	-	NC_000022.11:g.27796982C>T	gnomAD
MN1	Q10571	p.Ala1189Val	rs1355554568	missense variant	-	NC_000022.11:g.27796978G>A	gnomAD
MN1	Q10571	p.Gly1191Ala	rs750700213	missense variant	-	NC_000022.11:g.27796972C>G	ExAC,gnomAD
MN1	Q10571	p.Gly1191Glu	rs750700213	missense variant	-	NC_000022.11:g.27796972C>T	ExAC,gnomAD
MN1	Q10571	p.Ala1192Glu	rs1422408785	missense variant	-	NC_000022.11:g.27796969G>T	gnomAD
MN1	Q10571	p.Ala1192Ser	rs762845346	missense variant	-	NC_000022.11:g.27796970C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1192Thr	rs762845346	missense variant	-	NC_000022.11:g.27796970C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Gln1193ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27796968C>-	NCI-TCGA
MN1	Q10571	p.Asn1194Ser	rs1480534609	missense variant	-	NC_000022.11:g.27796963T>C	gnomAD
MN1	Q10571	p.Gly1195Val	rs1270798843	missense variant	-	NC_000022.11:g.27796960C>A	gnomAD
MN1	Q10571	p.Asp1196Glu	rs759489319	missense variant	-	NC_000022.11:g.27796956G>C	ExAC,gnomAD
MN1	Q10571	p.Asp1196His	rs765241173	missense variant	-	NC_000022.11:g.27796958C>G	ExAC,gnomAD
MN1	Q10571	p.Glu1198Gly	rs776285358	missense variant	-	NC_000022.11:g.27796951T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Leu1199Arg	rs770634832	missense variant	-	NC_000022.11:g.27796948A>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Cys1203Tyr	rs1282678424	missense variant	-	NC_000022.11:g.27796936C>T	gnomAD
MN1	Q10571	p.Cys1203Ter	rs1224377473	stop gained	-	NC_000022.11:g.27796935G>T	gnomAD
MN1	Q10571	p.Glu1205Lys	rs760250049	missense variant	-	NC_000022.11:g.27796931C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1206Val	rs772969426	missense variant	-	NC_000022.11:g.27796927G>A	ExAC,gnomAD
MN1	Q10571	p.Ala1206Glu	rs772969426	missense variant	-	NC_000022.11:g.27796927G>T	ExAC,gnomAD
MN1	Q10571	p.Val1207Phe	rs771594934	missense variant	-	NC_000022.11:g.27796925C>A	ExAC,gnomAD
MN1	Q10571	p.Ala1210Thr	rs1403298199	missense variant	-	NC_000022.11:g.27796916C>T	gnomAD
MN1	Q10571	p.Met1211Val	rs537367608	missense variant	-	NC_000022.11:g.27796913T>C	1000Genomes,ExAC,gnomAD
MN1	Q10571	p.Met1211Ile	COSM3842374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796911C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Ser1212Asn	COSM3553031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796909C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Ile1214Val	rs1470002941	missense variant	-	NC_000022.11:g.27796904T>C	gnomAD
MN1	Q10571	p.Ile1214Thr	rs769153004	missense variant	-	NC_000022.11:g.27796903A>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Leu1216Met	rs1048396618	missense variant	-	NC_000022.11:g.27796898G>T	TOPMed
MN1	Q10571	p.Asp1217His	rs1418330589	missense variant	-	NC_000022.11:g.27796895C>G	gnomAD
MN1	Q10571	p.Asp1217Ala	rs1250930278	missense variant	-	NC_000022.11:g.27796894T>G	TOPMed,gnomAD
MN1	Q10571	p.Ser1218Leu	rs1178907184	missense variant	-	NC_000022.11:g.27796891G>A	gnomAD
MN1	Q10571	p.Ser1218Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27796892A>C	NCI-TCGA
MN1	Q10571	p.Ala1221Ser	rs1389471682	missense variant	-	NC_000022.11:g.27796883C>A	TOPMed
MN1	Q10571	p.Ala1221Val	COSM478838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796882G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Ser1224Asn	rs531489963	missense variant	-	NC_000022.11:g.27796873C>T	TOPMed
MN1	Q10571	p.Ser1224Ile	rs531489963	missense variant	-	NC_000022.11:g.27796873C>A	TOPMed
MN1	Q10571	p.Ser1224Arg	rs901928225	missense variant	-	NC_000022.11:g.27796872G>C	TOPMed
MN1	Q10571	p.Ser1224Gly	rs756233312	missense variant	-	NC_000022.11:g.27796874T>C	ExAC,gnomAD
MN1	Q10571	p.Ala1225Pro	rs781506080	missense variant	-	NC_000022.11:g.27796871C>G	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1225Ser	rs781506080	missense variant	-	NC_000022.11:g.27796871C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1225Thr	rs781506080	missense variant	-	NC_000022.11:g.27796871C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1225Thr	rs781506080	missense variant	-	NC_000022.11:g.27796871C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Met1229Val	rs558028195	missense variant	-	NC_000022.11:g.27796859T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Met1229Leu	rs558028195	missense variant	-	NC_000022.11:g.27796859T>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1231Thr	rs554595460	missense variant	-	NC_000022.11:g.27796853C>T	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1234Val	rs1274323843	missense variant	-	NC_000022.11:g.27796843G>A	TOPMed,gnomAD
MN1	Q10571	p.Val1236Met	rs935251445	missense variant	-	NC_000022.11:g.27796838C>T	TOPMed,gnomAD
MN1	Q10571	p.Val1236Leu	rs935251445	missense variant	-	NC_000022.11:g.27796838C>G	TOPMed,gnomAD
MN1	Q10571	p.Ala1239Gly	rs1216829399	missense variant	-	NC_000022.11:g.27796828G>C	TOPMed,gnomAD
MN1	Q10571	p.Ala1239Val	rs1216829399	missense variant	-	NC_000022.11:g.27796828G>A	TOPMed,gnomAD
MN1	Q10571	p.Ala1239Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27796829C>T	NCI-TCGA
MN1	Q10571	p.Asp1240Glu	rs766399231	missense variant	-	NC_000022.11:g.27796824G>C	ExAC,gnomAD
MN1	Q10571	p.Asp1241Asn	rs760305140	missense variant	-	NC_000022.11:g.27796823C>T	ExAC,gnomAD
MN1	Q10571	p.Asp1242Asn	rs1156484834	missense variant	-	NC_000022.11:g.27796820C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Asp1242Asn	rs1156484834	missense variant	-	NC_000022.11:g.27796820C>T	gnomAD
MN1	Q10571	p.Thr1244Met	rs1160944052	missense variant	-	NC_000022.11:g.27796813G>A	NCI-TCGA
MN1	Q10571	p.Thr1244Ser	rs1364185392	missense variant	-	NC_000022.11:g.27796814T>A	gnomAD
MN1	Q10571	p.Thr1244Lys	rs1160944052	missense variant	-	NC_000022.11:g.27796813G>T	gnomAD
MN1	Q10571	p.Thr1244Met	rs1160944052	missense variant	-	NC_000022.11:g.27796813G>A	gnomAD
MN1	Q10571	p.Ala1246Val	rs772560420	missense variant	-	NC_000022.11:g.27796807G>A	ExAC,gnomAD
MN1	Q10571	p.Pro1247Ala	rs1246225634	missense variant	-	NC_000022.11:g.27796805G>C	TOPMed,gnomAD
MN1	Q10571	p.Pro1247Leu	COSM726034	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796804G>A	NCI-TCGA Cosmic
MN1	Q10571	p.Trp1248Cys	rs1297805962	missense variant	-	NC_000022.11:g.27796800C>G	TOPMed
MN1	Q10571	p.Glu1249Lys	rs761317200	missense variant	-	NC_000022.11:g.27796799C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Glu1249Lys	rs761317200	missense variant	-	NC_000022.11:g.27796799C>T	NCI-TCGA
MN1	Q10571	p.Lys1250Arg	rs769063080	missense variant	-	NC_000022.11:g.27796795T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1251Thr	rs979359888	missense variant	-	NC_000022.11:g.27796793C>T	gnomAD
MN1	Q10571	p.Pro1253His	rs1316408091	missense variant	-	NC_000022.11:g.27796786G>T	gnomAD
MN1	Q10571	p.Pro1253Thr	rs749628293	missense variant	-	NC_000022.11:g.27796787G>T	ExAC,gnomAD
MN1	Q10571	p.Ser1258Arg	rs776013560	missense variant	-	NC_000022.11:g.27796770G>C	ExAC,gnomAD
MN1	Q10571	p.Ser1258Asn	COSM6004984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796771C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Glu1260Gly	rs372548989	missense variant	-	NC_000022.11:g.27796765T>C	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.His1262Arg	rs751180626	missense variant	-	NC_000022.11:g.27751093T>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asp1263Gly	rs759932752	missense variant	-	NC_000022.11:g.27751090T>C	ExAC,gnomAD
MN1	Q10571	p.Asp1263Asn	rs765586902	missense variant	-	NC_000022.11:g.27751091C>T	ExAC,gnomAD
MN1	Q10571	p.Leu1264Arg	rs777054473	missense variant	-	NC_000022.11:g.27751087A>C	ExAC,gnomAD
MN1	Q10571	p.Pro1265Leu	rs1037763694	missense variant	-	NC_000022.11:g.27751084G>A	TOPMed
MN1	Q10571	p.Pro1265His	COSM1033019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27751084G>T	NCI-TCGA Cosmic
MN1	Q10571	p.Ala1266Val	rs771439976	missense variant	-	NC_000022.11:g.27751081G>A	ExAC,gnomAD
MN1	Q10571	p.Lys1268Gln	rs1410421473	missense variant	-	NC_000022.11:g.27751076T>G	gnomAD
MN1	Q10571	p.Lys1268Asn	rs1398750225	missense variant	-	NC_000022.11:g.27751074C>G	gnomAD
MN1	Q10571	p.Ala1271Thr	rs760703202	missense variant	-	NC_000022.11:g.27751067C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1271Thr	rs760703202	missense variant	-	NC_000022.11:g.27751067C>T	NCI-TCGA
MN1	Q10571	p.Gly1275Ser	rs772440856	missense variant	-	NC_000022.11:g.27751055C>T	ExAC,gnomAD
MN1	Q10571	p.Ser1276Asn	rs748318663	missense variant	-	NC_000022.11:g.27751051C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.His1277Tyr	rs1232626097	missense variant	-	NC_000022.11:g.27751049G>A	gnomAD
MN1	Q10571	p.Cys1280Tyr	rs1400633556	missense variant	-	NC_000022.11:g.27751039C>T	TOPMed
MN1	Q10571	p.Leu1281Val	COSM4830220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27751037G>C	NCI-TCGA Cosmic
MN1	Q10571	p.Asp1287Glu	rs745641592	missense variant	-	NC_000022.11:g.27751017G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asp1288Glu	rs757168083	missense variant	-	NC_000022.11:g.27751014G>C	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asp1288Gly	rs1263430260	missense variant	-	NC_000022.11:g.27751015T>C	gnomAD
MN1	Q10571	p.Asp1288Asn	rs370142548	missense variant	-	NC_000022.11:g.27751016C>T	NCI-TCGA
MN1	Q10571	p.Asp1288Glu	rs757168083	missense variant	-	NC_000022.11:g.27751014G>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asp1288Asn	rs370142548	missense variant	-	NC_000022.11:g.27751016C>T	ESP,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Val1289Met	rs751081286	missense variant	-	NC_000022.11:g.27751013C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asp1291Gly	rs942348707	missense variant	-	NC_000022.11:g.27751006T>C	TOPMed
MN1	Q10571	p.Ala1292Ser	rs757899030	missense variant	-	NC_000022.11:g.27751004C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1292Thr	rs757899030	missense variant	-	NC_000022.11:g.27751004C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Ala1292Thr	rs757899030	missense variant	-	NC_000022.11:g.27751004C>T	NCI-TCGA
MN1	Q10571	p.Ala1294Pro	rs1334599737	missense variant	-	NC_000022.11:g.27750998C>G	gnomAD
MN1	Q10571	p.Ala1294Ser	rs1334599737	missense variant	-	NC_000022.11:g.27750998C>A	gnomAD
MN1	Q10571	p.Arg1295Gln	rs764921542	missense variant	-	NC_000022.11:g.27750994C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg1295Leu	rs764921542	missense variant	-	NC_000022.11:g.27750994C>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Arg1295Ter	rs147334255	stop gained	-	NC_000022.11:g.27750995G>A	-
MN1	Q10571	p.Arg1295AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.27750995_27750996insTC	NCI-TCGA
MN1	Q10571	p.Arg1295Ter	rs147334255	stop gained	-	NC_000022.11:g.27750995G>A	NCI-TCGA,NCI-TCGA Cosmic
MN1	Q10571	p.Arg1295Ter	RCV000190793	nonsense	Inborn genetic diseases	NC_000022.11:g.27750995G>A	ClinVar
MN1	Q10571	p.Val1298Met	rs759860030	missense variant	-	NC_000022.11:g.27750986C>T	ExAC,TOPMed,gnomAD
MN1	Q10571	p.Pro1299Arg	rs754192681	missense variant	-	NC_000022.11:g.27750982G>C	ExAC,gnomAD
MN1	Q10571	p.Pro1299Ser	rs1376477525	missense variant	-	NC_000022.11:g.27750983G>A	TOPMed
MN1	Q10571	p.Thr1300Ser	rs912955289	missense variant	-	NC_000022.11:g.27750980T>A	TOPMed
MN1	Q10571	p.Trp1301Ter	COSM4385218	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27750975C>T	NCI-TCGA Cosmic
MN1	Q10571	p.Arg1302Trp	rs773433007	missense variant	-	NC_000022.11:g.27750974G>A	ExAC,TOPMed,gnomAD
MN1	Q10571	p.His1305Arg	rs1211821891	missense variant	-	NC_000022.11:g.27750964T>C	gnomAD
MN1	Q10571	p.Ser1306Phe	rs1444862127	missense variant	-	NC_000022.11:g.27750961G>A	gnomAD
MN1	Q10571	p.Ser1306Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.27750961G>C	NCI-TCGA
MN1	Q10571	p.Asp1307Asn	rs568489325	missense variant	-	NC_000022.11:g.27750959C>T	1000Genomes,ExAC,TOPMed,gnomAD
MN1	Q10571	p.Asp1307Asn	rs568489325	missense variant	-	NC_000022.11:g.27750959C>T	NCI-TCGA,NCI-TCGA Cosmic
MN1	Q10571	p.Ile1308Met	COSM4844933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27750954G>C	NCI-TCGA Cosmic
MN1	Q10571	p.Ser1309Thr	rs768879856	missense variant	-	NC_000022.11:g.27750953A>T	ExAC,gnomAD
MN1	Q10571	p.Arg1311Lys	rs867798991	missense variant	-	NC_000022.11:g.27750946C>T	-
MN1	Q10571	p.Arg1311Lys	rs867798991	missense variant	-	NC_000022.11:g.27750946C>T	NCI-TCGA
MN1	Q10571	p.Phe1312Leu	rs1391662942	missense variant	-	NC_000022.11:g.27750944A>G	TOPMed
MN1	Q10571	p.Thr1314Lys	rs1245117003	missense variant	-	NC_000022.11:g.27750937G>T	gnomAD
MN1	Q10571	p.Thr1314Ala	rs776427712	missense variant	-	NC_000022.11:g.27750938T>C	ExAC,gnomAD
MN1	Q10571	p.Val1316Met	rs747015092	missense variant	-	NC_000022.11:g.27750932C>T	ExAC,gnomAD
MN1	Q10571	p.Val1316Leu	rs747015092	missense variant	-	NC_000022.11:g.27750932C>G	ExAC,gnomAD
MN1	Q10571	p.Thr1320Ile	rs1344901102	missense variant	-	NC_000022.11:g.27750919G>A	gnomAD
PMPCA	Q10713	p.Ala2Gly	rs368853345	missense variant	-	NC_000009.12:g.136410673C>G	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala2Val	rs368853345	missense variant	-	NC_000009.12:g.136410673C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala2Ser	rs1045355167	missense variant	-	NC_000009.12:g.136410672G>T	TOPMed
PMPCA	Q10713	p.Val4Glu	rs76293177	missense variant	-	NC_000009.12:g.136410679T>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val4Gly	rs76293177	missense variant	-	NC_000009.12:g.136410679T>G	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val4Met	rs760975622	missense variant	-	NC_000009.12:g.136410678G>A	ExAC,gnomAD
PMPCA	Q10713	p.Val5Glu	rs561383356	missense variant	-	NC_000009.12:g.136410682T>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val5Ala	rs561383356	missense variant	-	NC_000009.12:g.136410682T>C	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu6Val	rs751427408	missense variant	-	NC_000009.12:g.136410684C>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala7Gly	rs149055087	missense variant	-	NC_000009.12:g.136410688C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala7Glu	rs149055087	missense variant	-	NC_000009.12:g.136410688C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala7Val	rs149055087	missense variant	-	NC_000009.12:g.136410688C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala8Gly	rs748858881	missense variant	-	NC_000009.12:g.136410691C>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala8Val	rs748858881	missense variant	-	NC_000009.12:g.136410691C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala8Thr	rs779615213	missense variant	-	NC_000009.12:g.136410690G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Thr9Lys	rs571540936	missense variant	-	NC_000009.12:g.136410694C>A	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Thr9Met	rs571540936	missense variant	-	NC_000009.12:g.136410694C>T	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Arg10Trp	rs770263035	missense variant	-	NC_000009.12:g.136410696C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg10Pro	rs1007898550	missense variant	-	NC_000009.12:g.136410697G>C	TOPMed,gnomAD
PMPCA	Q10713	p.Leu12Pro	rs771285196	missense variant	-	NC_000009.12:g.136410703T>C	ExAC,gnomAD
PMPCA	Q10713	p.Arg13Trp	rs776679891	missense variant	-	NC_000009.12:g.136410705C>T	ExAC,TOPMed
PMPCA	Q10713	p.Arg13Gln	rs759708108	missense variant	-	NC_000009.12:g.136410706G>A	ExAC,gnomAD
PMPCA	Q10713	p.Arg13Pro	rs759708108	missense variant	-	NC_000009.12:g.136410706G>C	ExAC,gnomAD
PMPCA	Q10713	p.Gly14Val	rs761722598	missense variant	-	NC_000009.12:g.136410709G>T	ExAC,gnomAD
PMPCA	Q10713	p.Gly16Ala	rs767384133	missense variant	-	NC_000009.12:g.136410715G>C	ExAC,gnomAD
PMPCA	Q10713	p.Gly16Val	rs767384133	missense variant	-	NC_000009.12:g.136410715G>T	ExAC,gnomAD
PMPCA	Q10713	p.Ser17Ala	rs750223224	missense variant	-	NC_000009.12:g.136410717T>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Trp18Arg	rs142682572	missense variant	-	NC_000009.12:g.136410720T>C	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser21Leu	rs753411469	missense variant	-	NC_000009.12:g.136410730C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg22Trp	RCV000416418	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136410732C>T	ClinVar
PMPCA	Q10713	p.Arg22Leu	rs374412780	missense variant	-	NC_000009.12:g.136410733G>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg22Gln	rs374412780	missense variant	-	NC_000009.12:g.136410733G>A	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg22Trp	rs1057519454	missense variant	-	NC_000009.12:g.136410732C>T	TOPMed
PMPCA	Q10713	p.Leu23Val	rs996347606	missense variant	-	NC_000009.12:g.136410735C>G	TOPMed
PMPCA	Q10713	p.Arg24Trp	rs778283114	missense variant	-	NC_000009.12:g.136410738A>T	ExAC,gnomAD
PMPCA	Q10713	p.Phe25Val	rs753594951	missense variant	-	NC_000009.12:g.136411998T>G	ExAC,gnomAD
PMPCA	Q10713	p.Pro27Ser	rs754573487	missense variant	-	NC_000009.12:g.136412004C>T	ExAC,gnomAD
PMPCA	Q10713	p.Pro27Thr	rs754573487	missense variant	-	NC_000009.12:g.136412004C>A	ExAC,gnomAD
PMPCA	Q10713	p.Ala29Val	rs185273868	missense variant	-	NC_000009.12:g.136412011C>T	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala29Thr	rs904950671	missense variant	-	NC_000009.12:g.136412010G>A	TOPMed,gnomAD
PMPCA	Q10713	p.Arg32Trp	rs765195885	missense variant	-	NC_000009.12:g.136412019C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg32Gln	rs1193071545	missense variant	-	NC_000009.12:g.136412020G>A	TOPMed
PMPCA	Q10713	p.Ser35Arg	rs148471154	missense variant	-	NC_000009.12:g.136412030T>A	ESP,ExAC,gnomAD
PMPCA	Q10713	p.Gly36Asp	rs769911539	missense variant	-	NC_000009.12:g.136412032G>A	ExAC,gnomAD
PMPCA	Q10713	p.Gly37Ala	rs749391043	missense variant	-	NC_000009.12:g.136412035G>C	ExAC,gnomAD
PMPCA	Q10713	p.Ala38Asp	rs773174464	missense variant	-	NC_000009.12:g.136412038C>A	ExAC,gnomAD
PMPCA	Q10713	p.Ala38Ser	rs200216451	missense variant	-	NC_000009.12:g.136412037G>T	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Ala38Gly	rs773174464	missense variant	-	NC_000009.12:g.136412038C>G	ExAC,gnomAD
PMPCA	Q10713	p.Ala38Pro	rs200216451	missense variant	-	NC_000009.12:g.136412037G>C	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Tyr39Cys	rs201851161	missense variant	-	NC_000009.12:g.136412041A>G	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Tyr39His	rs1483364409	missense variant	-	NC_000009.12:g.136412040T>C	gnomAD
PMPCA	Q10713	p.Pro40Ser	rs1459460411	missense variant	-	NC_000009.12:g.136412043C>T	TOPMed
PMPCA	Q10713	p.Ile42Asn	rs776304951	missense variant	-	NC_000009.12:g.136412050T>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu44Val	rs764833191	missense variant	-	NC_000009.12:g.136412055C>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu44Phe	rs764833191	missense variant	-	NC_000009.12:g.136412055C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu44Pro	rs545672039	missense variant	-	NC_000009.12:g.136412056T>C	ExAC,gnomAD
PMPCA	Q10713	p.Ser46Ala	rs541694322	missense variant	-	NC_000009.12:g.136412061T>G	TOPMed,gnomAD
PMPCA	Q10713	p.Pro47Leu	rs1450652782	missense variant	-	NC_000009.12:g.136412065C>T	gnomAD
PMPCA	Q10713	p.Pro47Ser	rs763689660	missense variant	-	NC_000009.12:g.136412064C>T	ExAC,gnomAD
PMPCA	Q10713	p.Pro49Leu	rs374916460	missense variant	-	NC_000009.12:g.136412071C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val51Ile	rs1290350795	missense variant	-	NC_000009.12:g.136412076G>A	gnomAD
PMPCA	Q10713	p.Pro52Leu	rs750783370	missense variant	-	NC_000009.12:g.136412080C>T	ExAC,gnomAD
PMPCA	Q10713	p.Pro52Ser	rs1217460585	missense variant	-	NC_000009.12:g.136412079C>T	gnomAD
PMPCA	Q10713	p.Val55Ala	rs113080564	missense variant	-	NC_000009.12:g.136412089T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Phe56Val	rs1182230846	missense variant	-	NC_000009.12:g.136412091T>G	gnomAD
PMPCA	Q10713	p.Phe56Tyr	rs1399138004	missense variant	-	NC_000009.12:g.136412092T>A	TOPMed
PMPCA	Q10713	p.Ala57Val	rs778953110	missense variant	-	NC_000009.12:g.136412095C>T	ExAC,gnomAD
PMPCA	Q10713	p.Thr58Lys	rs1172447345	missense variant	-	NC_000009.12:g.136412098C>A	TOPMed,gnomAD
PMPCA	Q10713	p.Thr58Ala	rs367845329	missense variant	-	NC_000009.12:g.136412097A>G	ESP,TOPMed,gnomAD
PMPCA	Q10713	p.Thr58Ile	rs1172447345	missense variant	-	NC_000009.12:g.136412098C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Gly61Glu	rs1426493628	missense variant	-	NC_000009.12:g.136412107G>A	gnomAD
PMPCA	Q10713	p.Glu63Gly	rs770779234	missense variant	-	NC_000009.12:g.136412113A>G	ExAC,gnomAD
PMPCA	Q10713	p.Thr67Ala	COSM3905672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136412124A>G	NCI-TCGA Cosmic
PMPCA	Q10713	p.Thr67Asn	rs1430712591	missense variant	-	NC_000009.12:g.136412125C>A	gnomAD
PMPCA	Q10713	p.Leu72Ter	rs769611692	stop gained	-	NC_000009.12:g.136412140T>A	ExAC,gnomAD
PMPCA	Q10713	p.Leu72Ser	rs769611692	missense variant	-	NC_000009.12:g.136412140T>C	ExAC,gnomAD
PMPCA	Q10713	p.Asp73Asn	rs1363458152	missense variant	-	NC_000009.12:g.136412142G>A	gnomAD
PMPCA	Q10713	p.Arg77Cys	rs143416740	missense variant	-	NC_000009.12:g.136412154C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val78Met	rs761345159	missense variant	-	NC_000009.12:g.136412157G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala79Thr	rs767929938	missense variant	-	NC_000009.12:g.136412160G>A	ExAC,gnomAD
PMPCA	Q10713	p.Gln81Arg	rs987997261	missense variant	-	NC_000009.12:g.136412167A>G	TOPMed
PMPCA	Q10713	p.Gly85Ala	COSM3779814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136412179G>C	NCI-TCGA Cosmic
PMPCA	Q10713	p.Gln86His	rs141305380	missense variant	-	NC_000009.12:g.136412183G>C	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Thr89Ile	rs143542738	missense variant	-	NC_000009.12:g.136412191C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Thr89Ala	rs780393219	missense variant	-	NC_000009.12:g.136412190A>G	ExAC,gnomAD
PMPCA	Q10713	p.Val90Leu	rs755207706	missense variant	-	NC_000009.12:g.136412193G>T	ExAC,gnomAD
PMPCA	Q10713	p.Val90Ile	rs755207706	missense variant	-	NC_000009.12:g.136412193G>A	ExAC,gnomAD
PMPCA	Q10713	p.Ile94Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136412496T>C	NCI-TCGA
PMPCA	Q10713	p.Asn95Ser	rs559122481	missense variant	-	NC_000009.12:g.136412499A>G	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser96Leu	RCV000207255	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136412502C>T	ClinVar
PMPCA	Q10713	p.Ser96Leu	rs869025292	missense variant	-	NC_000009.12:g.136412502C>T	-
PMPCA	Q10713	p.Ser98Ter	rs780097115	stop gained	-	NC_000009.12:g.136412508C>A	ExAC,gnomAD
PMPCA	Q10713	p.Ser98Ala	rs1438925486	missense variant	-	NC_000009.12:g.136412507T>G	TOPMed
PMPCA	Q10713	p.Ser98Leu	rs780097115	missense variant	-	NC_000009.12:g.136412508C>T	ExAC,gnomAD
PMPCA	Q10713	p.Glu101Asp	COSM297611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136412518A>C	NCI-TCGA Cosmic
PMPCA	Q10713	p.Ala102Val	rs577436658	missense variant	-	NC_000009.12:g.136412520C>T	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala102Gly	rs577436658	missense variant	-	NC_000009.12:g.136412520C>G	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Tyr104His	rs1284218657	missense variant	-	NC_000009.12:g.136412525T>C	TOPMed
PMPCA	Q10713	p.Leu105Phe	rs145709638	missense variant	-	NC_000009.12:g.136412528C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu105Arg	rs369266401	missense variant	-	NC_000009.12:g.136412529T>G	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser106Thr	rs1484494218	missense variant	-	NC_000009.12:g.136412532G>C	gnomAD
PMPCA	Q10713	p.Ser106Arg	rs766903950	missense variant	-	NC_000009.12:g.136412531A>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ile108Leu	rs889270643	missense variant	-	NC_000009.12:g.136412537A>C	TOPMed,gnomAD
PMPCA	Q10713	p.Glu113Gln	rs759946294	missense variant	-	NC_000009.12:g.136412552G>C	ExAC,gnomAD
PMPCA	Q10713	p.Lys114Gln	rs765559277	missense variant	-	NC_000009.12:g.136412555A>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser118Leu	rs752932999	missense variant	-	NC_000009.12:g.136412568C>T	ExAC,gnomAD
PMPCA	Q10713	p.Ser119Phe	rs778649107	missense variant	-	NC_000009.12:g.136412811C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser119Tyr	rs778649107	missense variant	-	NC_000009.12:g.136412811C>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala121Ser	rs752569851	missense variant	-	NC_000009.12:g.136412816G>T	ExAC,gnomAD
PMPCA	Q10713	p.Ala121Pro	rs752569851	missense variant	-	NC_000009.12:g.136412816G>C	ExAC,gnomAD
PMPCA	Q10713	p.Ala121Val	COSM1106782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136412817C>T	NCI-TCGA Cosmic
PMPCA	Q10713	p.Arg122Ter	rs187951510	stop gained	-	NC_000009.12:g.136412819C>T	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg122Leu	rs777534357	missense variant	-	NC_000009.12:g.136412820G>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg122Gln	rs777534357	missense variant	-	NC_000009.12:g.136412820G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Phe123Leu	rs1179750949	missense variant	-	NC_000009.12:g.136412824T>G	TOPMed
PMPCA	Q10713	p.Asp124His	rs961600848	missense variant	-	NC_000009.12:g.136412825G>C	gnomAD
PMPCA	Q10713	p.Asp124Tyr	rs961600848	missense variant	-	NC_000009.12:g.136412825G>T	gnomAD
PMPCA	Q10713	p.Ser125Thr	rs770498809	missense variant	-	NC_000009.12:g.136412829G>C	ExAC,gnomAD
PMPCA	Q10713	p.Asp127Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136412834G>A	NCI-TCGA
PMPCA	Q10713	p.Glu128Lys	rs1291324687	missense variant	-	NC_000009.12:g.136412837G>A	gnomAD
PMPCA	Q10713	p.Leu131Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136412846C>T	NCI-TCGA
PMPCA	Q10713	p.Thr132Met	rs377406908	missense variant	-	NC_000009.12:g.136412850C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.His136Tyr	rs763420915	missense variant	-	NC_000009.12:g.136412861C>T	ExAC,gnomAD
PMPCA	Q10713	p.Gly138Asp	rs762112786	missense variant	-	NC_000009.12:g.136412868G>A	ExAC,gnomAD
PMPCA	Q10713	p.Ile139Val	rs1280678675	missense variant	-	NC_000009.12:g.136412870A>G	TOPMed
PMPCA	Q10713	p.Asp141Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136412877A>G	NCI-TCGA
PMPCA	Q10713	p.Thr144Ala	rs1264999669	missense variant	-	NC_000009.12:g.136412885A>G	TOPMed,gnomAD
PMPCA	Q10713	p.Asp147Asn	rs1208381721	missense variant	-	NC_000009.12:g.136414554G>A	TOPMed
PMPCA	Q10713	p.Asp147Gly	rs1446299060	missense variant	-	NC_000009.12:g.136414555A>G	gnomAD
PMPCA	Q10713	p.Asp147Glu	rs756993488	missense variant	-	NC_000009.12:g.136414556C>G	ExAC,gnomAD
PMPCA	Q10713	p.Thr148Ala	rs1380205222	missense variant	-	NC_000009.12:g.136414557A>G	gnomAD
PMPCA	Q10713	p.Thr148Ile	rs576680927	missense variant	-	NC_000009.12:g.136414558C>T	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Thr149Ala	COSM4716103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136414560A>G	NCI-TCGA Cosmic
PMPCA	Q10713	p.Met150Thr	rs760182936	missense variant	-	NC_000009.12:g.136414564T>C	ExAC,gnomAD
PMPCA	Q10713	p.Met150Val	rs750044634	missense variant	-	NC_000009.12:g.136414563A>G	ExAC,gnomAD
PMPCA	Q10713	p.Tyr151Phe	rs779415282	missense variant	-	NC_000009.12:g.136414567A>T	ExAC,gnomAD
PMPCA	Q10713	p.Ala152Ser	rs755444850	missense variant	-	NC_000009.12:g.136414569G>T	ExAC,gnomAD
PMPCA	Q10713	p.Val153Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136414573T>A	NCI-TCGA
PMPCA	Q10713	p.Val153Met	rs1207799197	missense variant	-	NC_000009.12:g.136414572G>A	gnomAD
PMPCA	Q10713	p.Ser154Phe	rs779522057	missense variant	-	NC_000009.12:g.136414576C>T	ExAC,gnomAD
PMPCA	Q10713	p.Ala155Val	rs148940590	missense variant	-	NC_000009.12:g.136414579C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Asp156His	COSM4855541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136414581G>C	NCI-TCGA Cosmic
PMPCA	Q10713	p.Asp156Asn	rs543713243	missense variant	-	NC_000009.12:g.136414581G>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser157Thr	rs773610585	missense variant	-	NC_000009.12:g.136414585G>C	ExAC
PMPCA	Q10713	p.Gly159Val	rs143813417	missense variant	-	NC_000009.12:g.136414591G>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu160Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136414593T>G	NCI-TCGA
PMPCA	Q10713	p.Thr162Ala	rs754438094	missense variant	-	NC_000009.12:g.136414599A>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Thr162Met	rs192764146	missense variant	-	NC_000009.12:g.136414600C>T	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Thr162Lys	rs192764146	missense variant	-	NC_000009.12:g.136414600C>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val163Met	rs774247233	missense variant	-	NC_000009.12:g.136414602G>A	ExAC,gnomAD
PMPCA	Q10713	p.Val164Ala	rs1436877996	missense variant	-	NC_000009.12:g.136414606T>C	gnomAD
PMPCA	Q10713	p.Ala165Thr	rs1311448987	missense variant	-	NC_000009.12:g.136414608G>A	TOPMed
PMPCA	Q10713	p.Ala165Val	rs964477963	missense variant	-	NC_000009.12:g.136414609C>T	gnomAD
PMPCA	Q10713	p.Ala168Thr	rs372911421	missense variant	-	NC_000009.12:g.136414617G>A	ESP,ExAC,gnomAD
PMPCA	Q10713	p.Val170Gly	rs1280013483	missense variant	-	NC_000009.12:g.136414624T>G	gnomAD
PMPCA	Q10713	p.Val170AspPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000009.12:g.136414623_136414624insACTAATTCTACTTCTTTTCCTGTTTGCATGACTT	NCI-TCGA
PMPCA	Q10713	p.Val171Phe	rs1414622818	missense variant	-	NC_000009.12:g.136414626G>T	TOPMed
PMPCA	Q10713	p.Val171Ala	COSM1461074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136414627T>C	NCI-TCGA Cosmic
PMPCA	Q10713	p.Pro174Leu	rs200013425	missense variant	-	NC_000009.12:g.136414636C>T	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Pro174Ser	rs368447845	missense variant	-	NC_000009.12:g.136414635C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Pro174Ala	rs368447845	missense variant	-	NC_000009.12:g.136414635C>G	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg175Gln	rs142513180	missense variant	-	NC_000009.12:g.136414639G>A	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg175Pro	rs142513180	missense variant	-	NC_000009.12:g.136414639G>C	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg175Trp	rs375535519	missense variant	-	NC_000009.12:g.136414638C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Asp178Asn	rs146817048	missense variant	-	NC_000009.12:g.136414647G>A	ESP,ExAC,gnomAD
PMPCA	Q10713	p.Asp178Ala	rs1227261787	missense variant	-	NC_000009.12:g.136416291A>C	gnomAD
PMPCA	Q10713	p.Asp178Glu	rs769918024	missense variant	-	NC_000009.12:g.136416292T>G	ExAC,TOPMed
PMPCA	Q10713	p.Asp178His	rs146817048	missense variant	-	NC_000009.12:g.136414647G>C	ESP,ExAC,gnomAD
PMPCA	Q10713	p.Asp178Tyr	rs146817048	missense variant	-	NC_000009.12:g.136414647G>T	ESP,ExAC,gnomAD
PMPCA	Q10713	p.Glu180Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136416296G>C	NCI-TCGA
PMPCA	Q10713	p.Val181Ile	rs1337651265	missense variant	-	NC_000009.12:g.136416299G>A	gnomAD
PMPCA	Q10713	p.Glu182Lys	RCV000520363	missense variant	-	NC_000009.12:g.136416302G>A	ClinVar
PMPCA	Q10713	p.Glu182Asp	COSM4832832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136416304G>C	NCI-TCGA Cosmic
PMPCA	Q10713	p.Glu182Lys	rs868320996	missense variant	-	NC_000009.12:g.136416302G>A	gnomAD
PMPCA	Q10713	p.Met183Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136416307G>A	NCI-TCGA
PMPCA	Q10713	p.Thr184Met	rs772027681	missense variant	-	NC_000009.12:g.136416309C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg185Gln	RCV000416433	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136416312G>A	ClinVar
PMPCA	Q10713	p.Arg185Gln	rs573267388	missense variant	-	NC_000009.12:g.136416312G>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg185Trp	rs1001253464	missense variant	-	NC_000009.12:g.136416311C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Arg185Leu	rs573267388	missense variant	-	NC_000009.12:g.136416312G>T	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala187Val	rs1472486098	missense variant	-	NC_000009.12:g.136416318C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Ala187Thr	rs1235969290	missense variant	-	NC_000009.12:g.136416317G>A	gnomAD
PMPCA	Q10713	p.Val188Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136416320G>C	NCI-TCGA
PMPCA	Q10713	p.Gln189Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136416324A>G	NCI-TCGA
PMPCA	Q10713	p.Glu191Gly	rs776215231	missense variant	-	NC_000009.12:g.136416330A>G	ExAC,gnomAD
PMPCA	Q10713	p.Glu191Lys	COSM3655731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136416329G>A	NCI-TCGA Cosmic
PMPCA	Q10713	p.Arg198Trp	rs759251899	missense variant	-	NC_000009.12:g.136416350C>T	ExAC,gnomAD
PMPCA	Q10713	p.Arg198Gln	rs138828077	missense variant	-	NC_000009.12:g.136416351G>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Pro199Ser	COSM3905674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136416353C>T	NCI-TCGA Cosmic
PMPCA	Q10713	p.Pro199Arg	rs1413593643	missense variant	-	NC_000009.12:g.136416354C>G	gnomAD
PMPCA	Q10713	p.Glu202Gly	rs202131156	missense variant	-	NC_000009.12:g.136416363A>G	1000Genomes
PMPCA	Q10713	p.Pro203Ser	rs752263915	missense variant	-	NC_000009.12:g.136416365C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu205Val	rs764553676	missense variant	-	NC_000009.12:g.136416371C>G	ExAC,gnomAD
PMPCA	Q10713	p.Glu207Lys	rs1268069725	missense variant	-	NC_000009.12:g.136416377G>A	gnomAD
PMPCA	Q10713	p.Met208Val	rs1351789649	missense variant	-	NC_000009.12:g.136416380A>G	gnomAD
PMPCA	Q10713	p.Met208Lys	rs757626111	missense variant	-	NC_000009.12:g.136416381T>A	ExAC,gnomAD
PMPCA	Q10713	p.Ile209Thr	rs1276731683	missense variant	-	NC_000009.12:g.136416384T>C	gnomAD
PMPCA	Q10713	p.Ile209Asn	rs1276731683	missense variant	-	NC_000009.12:g.136416384T>A	gnomAD
PMPCA	Q10713	p.Ala212Val	rs201344036	missense variant	-	NC_000009.12:g.136416952C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala213Ser	rs747734212	missense variant	-	NC_000009.12:g.136416954G>T	ExAC
PMPCA	Q10713	p.Tyr214Ter	rs771549019	stop gained	-	NC_000009.12:g.136416959C>G	ExAC,gnomAD
PMPCA	Q10713	p.Arg215Gly	rs1233751945	missense variant	-	NC_000009.12:g.136416960A>G	TOPMed,gnomAD
PMPCA	Q10713	p.Thr218Ser	rs1274988424	missense variant	-	NC_000009.12:g.136416969A>T	gnomAD
PMPCA	Q10713	p.Thr218Pro	rs1274988424	missense variant	-	NC_000009.12:g.136416969A>C	gnomAD
PMPCA	Q10713	p.Thr218Ile	rs773765494	missense variant	-	NC_000009.12:g.136416970C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val219Phe	rs1214845306	missense variant	-	NC_000009.12:g.136416972G>T	gnomAD
PMPCA	Q10713	p.His222Arg	rs761164804	missense variant	-	NC_000009.12:g.136416982A>G	ExAC,gnomAD
PMPCA	Q10713	p.Arg223His	rs776990571	missense variant	-	NC_000009.12:g.136416985G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg223Cys	rs771359205	missense variant	-	NC_000009.12:g.136416984C>T	ExAC,gnomAD
PMPCA	Q10713	p.Pro226Leu	rs759767573	missense variant	-	NC_000009.12:g.136416994C>T	ExAC,gnomAD
PMPCA	Q10713	p.Asn229Ser	rs765523253	missense variant	-	NC_000009.12:g.136417003A>G	ExAC,gnomAD
PMPCA	Q10713	p.Val230Ile	rs763155407	missense variant	-	NC_000009.12:g.136417005G>A	ExAC,gnomAD
PMPCA	Q10713	p.Ala231Thr	rs764268524	missense variant	-	NC_000009.12:g.136417008G>A	ExAC,gnomAD
PMPCA	Q10713	p.Ala231Gly	rs370137483	missense variant	-	NC_000009.12:g.136417009C>G	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Lys232Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136417013G>T	NCI-TCGA
PMPCA	Q10713	p.Ile233Val	rs756136045	missense variant	-	NC_000009.12:g.136417014A>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Asn234Asp	rs1340126724	missense variant	-	NC_000009.12:g.136417017A>G	TOPMed
PMPCA	Q10713	p.Asn234Ser	rs780093137	missense variant	-	NC_000009.12:g.136417018A>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg235Gly	rs754699927	missense variant	-	NC_000009.12:g.136417020C>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg235Gln	rs539008499	missense variant	-	NC_000009.12:g.136417021G>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg235Ter	rs754699927	stop gained	-	NC_000009.12:g.136417020C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Glu236Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136417025G>T	NCI-TCGA
PMPCA	Q10713	p.Leu238Val	rs1279192263	missense variant	-	NC_000009.12:g.136417029C>G	gnomAD
PMPCA	Q10713	p.His239Arg	rs1407300614	missense variant	-	NC_000009.12:g.136417033A>G	TOPMed
PMPCA	Q10713	p.Ser240Tyr	rs777268401	missense variant	-	NC_000009.12:g.136417036C>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Tyr241Ser	rs746463496	missense variant	-	NC_000009.12:g.136417039A>C	ExAC,gnomAD
PMPCA	Q10713	p.Tyr241Cys	rs746463496	missense variant	-	NC_000009.12:g.136417039A>G	ExAC,gnomAD
PMPCA	Q10713	p.Leu242Pro	rs767886920	missense variant	-	NC_000009.12:g.136417042T>C	ExAC,gnomAD
PMPCA	Q10713	p.Asn244Ser	rs150706625	missense variant	-	NC_000009.12:g.136417048A>G	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Tyr245Cys	rs763276194	missense variant	-	NC_000009.12:g.136417051A>G	ExAC,gnomAD
PMPCA	Q10713	p.Tyr246Ter	rs752465318	stop gained	-	NC_000009.12:g.136417054dup	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Thr247Ala	rs764356617	missense variant	-	NC_000009.12:g.136417056A>G	ExAC,gnomAD
PMPCA	Q10713	p.Pro248Arg	rs751714654	missense variant	-	NC_000009.12:g.136417060C>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Asp249Asn	rs3812582	missense variant	-	NC_000009.12:g.136417062G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg250His	rs754860344	missense variant	-	NC_000009.12:g.136417066G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg250Cys	rs1231149205	missense variant	-	NC_000009.12:g.136417065C>T	TOPMed
PMPCA	Q10713	p.Val252Met	rs761195169	missense variant	-	NC_000009.12:g.136417071G>A	gnomAD
PMPCA	Q10713	p.Gly255Ser	rs752469291	missense variant	-	NC_000009.12:g.136417080G>A	ExAC,gnomAD
PMPCA	Q10713	p.Val256Met	RCV000207212	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136417083G>A	ClinVar
PMPCA	Q10713	p.Val256Met	rs746549806	missense variant	-	NC_000009.12:g.136417083G>A	ExAC,gnomAD
PMPCA	Q10713	p.Val256Met	rs746549806	missense variant	Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2)	NC_000009.12:g.136417083G>A	UniProt,dbSNP
PMPCA	Q10713	p.Val256Met	VAR_076238	missense variant	Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2)	NC_000009.12:g.136417083G>A	UniProt
PMPCA	Q10713	p.Val258Leu	rs770272761	missense variant	-	NC_000009.12:g.136417089G>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val258Met	rs770272761	missense variant	-	NC_000009.12:g.136417089G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val258Ala	rs749622972	missense variant	-	NC_000009.12:g.136417090T>C	ExAC,gnomAD
PMPCA	Q10713	p.Glu259Gly	rs1225789144	missense variant	-	NC_000009.12:g.136417093A>G	TOPMed
PMPCA	Q10713	p.Glu259Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136417092G>A	NCI-TCGA
PMPCA	Q10713	p.Glu261Lys	rs200586100	missense variant	-	NC_000009.12:g.136417098G>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.His262Leu	rs767481786	missense variant	-	NC_000009.12:g.136417102A>T	ExAC,gnomAD
PMPCA	Q10713	p.His262Arg	rs767481786	missense variant	-	NC_000009.12:g.136417102A>G	ExAC,gnomAD
PMPCA	Q10713	p.Cys266Tyr	rs1325041351	missense variant	-	NC_000009.12:g.136417114G>A	gnomAD
PMPCA	Q10713	p.Ala267Val	rs953796467	missense variant	-	NC_000009.12:g.136417117C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Ala267Thr	rs1159448943	missense variant	-	NC_000009.12:g.136417116G>A	gnomAD
PMPCA	Q10713	p.Ala267Gly	rs953796467	missense variant	-	NC_000009.12:g.136417117C>G	TOPMed,gnomAD
PMPCA	Q10713	p.Arg268Trp	rs868051663	missense variant	-	NC_000009.12:g.136417119C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Arg268Gln	rs758146224	missense variant	-	NC_000009.12:g.136417120G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu271Phe	rs377133704	missense variant	-	NC_000009.12:g.136417128C>T	gnomAD
PMPCA	Q10713	p.Pro276Ser	rs751187226	missense variant	-	NC_000009.12:g.136417143C>T	ExAC,gnomAD
PMPCA	Q10713	p.Pro276Leu	rs1470108417	missense variant	-	NC_000009.12:g.136417144C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Ala277Ser	rs1241778540	missense variant	-	NC_000009.12:g.136417146G>T	gnomAD
PMPCA	Q10713	p.Trp278Ter	rs780575938	stop gained	-	NC_000009.12:g.136417150G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Trp278Ser	rs780575938	missense variant	-	NC_000009.12:g.136417150G>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Gly279Arg	rs745329333	missense variant	-	NC_000009.12:g.136417152G>C	ExAC
PMPCA	Q10713	p.Ser280Arg	rs756603199	missense variant	-	NC_000009.12:g.136417157C>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala281Pro	rs780572652	missense variant	-	NC_000009.12:g.136417158G>C	ExAC,gnomAD
PMPCA	Q10713	p.Ala281Thr	rs780572652	missense variant	-	NC_000009.12:g.136417158G>A	ExAC,gnomAD
PMPCA	Q10713	p.Ala283Val	rs1164135998	missense variant	-	NC_000009.12:g.136417165C>T	gnomAD
PMPCA	Q10713	p.Ala283Ser	rs1181895004	missense variant	-	NC_000009.12:g.136417164G>T	TOPMed
PMPCA	Q10713	p.Val284Leu	rs374905438	missense variant	-	NC_000009.12:g.136417167G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val284Met	rs374905438	missense variant	-	NC_000009.12:g.136417167G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Asp285Asn	rs1205766493	missense variant	-	NC_000009.12:g.136417170G>A	TOPMed
PMPCA	Q10713	p.Asp287Gly	rs1325528506	missense variant	-	NC_000009.12:g.136417177A>G	gnomAD
PMPCA	Q10713	p.Arg288Lys	rs748375932	missense variant	-	NC_000009.12:g.136417180G>A	ExAC,gnomAD
PMPCA	Q10713	p.Ser289Cys	rs777397748	missense variant	-	NC_000009.12:g.136417183C>G	ExAC,gnomAD
PMPCA	Q10713	p.Ser289Phe	rs777397748	missense variant	-	NC_000009.12:g.136417183C>T	ExAC,gnomAD
PMPCA	Q10713	p.Ala291Thr	rs1233134648	missense variant	-	NC_000009.12:g.136417188G>A	TOPMed,gnomAD
PMPCA	Q10713	p.Ala291Val	rs1274364841	missense variant	-	NC_000009.12:g.136417189C>T	gnomAD
PMPCA	Q10713	p.Gln292Glu	rs1353558121	missense variant	-	NC_000009.12:g.136417191C>G	TOPMed
PMPCA	Q10713	p.Thr294Ile	COSM6183173	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136417198C>T	NCI-TCGA Cosmic
PMPCA	Q10713	p.Thr294Ala	rs558684761	missense variant	-	NC_000009.12:g.136417197A>G	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Gly295Ala	rs3812583	missense variant	-	NC_000009.12:g.136417201G>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Gly296Glu	rs1243198327	missense variant	-	NC_000009.12:g.136417204G>A	TOPMed
PMPCA	Q10713	p.Ile297LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136417200G>-	NCI-TCGA
PMPCA	Q10713	p.Ala298Thr	rs1283803895	missense variant	-	NC_000009.12:g.136417209G>A	gnomAD
PMPCA	Q10713	p.Lys299Asn	rs200775950	missense variant	-	NC_000009.12:g.136417214G>C	1000Genomes
PMPCA	Q10713	p.Glu301Gln	COSM4834435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136418020G>C	NCI-TCGA Cosmic
PMPCA	Q10713	p.Glu301Gly	rs1402738387	missense variant	-	NC_000009.12:g.136418021A>G	gnomAD
PMPCA	Q10713	p.Arg302Gly	rs567719340	missense variant	-	NC_000009.12:g.136418023A>G	gnomAD
PMPCA	Q10713	p.Arg302Thr	rs765984319	missense variant	-	NC_000009.12:g.136418024G>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Asp303Asn	rs1195035943	missense variant	-	NC_000009.12:g.136418026G>A	TOPMed
PMPCA	Q10713	p.Met304Thr	rs755555058	missense variant	-	NC_000009.12:g.136418030T>C	ExAC,gnomAD
PMPCA	Q10713	p.Ser305Phe	rs146245454	missense variant	-	NC_000009.12:g.136418033C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser305Pro	rs779511647	missense variant	-	NC_000009.12:g.136418032T>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Asn306Ile	rs199635711	missense variant	-	NC_000009.12:g.136418036A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Asn306Asp	rs1249757103	missense variant	-	NC_000009.12:g.136418035A>G	gnomAD
PMPCA	Q10713	p.Asn306Ser	rs199635711	missense variant	-	NC_000009.12:g.136418036A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val307Ile	rs1250743860	missense variant	-	NC_000009.12:g.136418038G>A	TOPMed,gnomAD
PMPCA	Q10713	p.Gly310Ala	rs775256844	missense variant	-	NC_000009.12:g.136418048G>C	TOPMed,gnomAD
PMPCA	Q10713	p.Pro311Leu	rs781266438	missense variant	-	NC_000009.12:g.136418051C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Thr312Ile	rs1167805415	missense variant	-	NC_000009.12:g.136418054C>T	gnomAD
PMPCA	Q10713	p.Pro313Ser	rs745904011	missense variant	-	NC_000009.12:g.136418056C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ile314Met	rs748925451	missense variant	-	NC_000009.12:g.136418061C>G	ExAC,gnomAD
PMPCA	Q10713	p.Ile314SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136418054C>-	NCI-TCGA
PMPCA	Q10713	p.Ile314Val	COSM4832242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136418059A>G	NCI-TCGA Cosmic
PMPCA	Q10713	p.Pro315Leu	rs1370521408	missense variant	-	NC_000009.12:g.136418063C>T	gnomAD
PMPCA	Q10713	p.Pro315Ser	rs774243384	missense variant	-	NC_000009.12:g.136418062C>T	ExAC,gnomAD
PMPCA	Q10713	p.Pro315Arg	rs1370521408	missense variant	-	NC_000009.12:g.136418063C>G	gnomAD
PMPCA	Q10713	p.Glu316Lys	rs1303691840	missense variant	-	NC_000009.12:g.136418065G>A	gnomAD
PMPCA	Q10713	p.Thr318Met	rs375626355	missense variant	-	NC_000009.12:g.136418072C>T	ESP,ExAC,gnomAD
PMPCA	Q10713	p.Met321Thr	rs766071255	missense variant	-	NC_000009.12:g.136418081T>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Met321Val	rs201495107	missense variant	-	NC_000009.12:g.136418080A>G	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Leu324Pro	rs1217486935	missense variant	-	NC_000009.12:g.136418090T>C	gnomAD
PMPCA	Q10713	p.Glu325Gln	rs1467883332	missense variant	-	NC_000009.12:g.136418092G>C	gnomAD
PMPCA	Q10713	p.Ser328Phe	rs759075216	missense variant	-	NC_000009.12:g.136418102C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu330Pro	rs1255598911	missense variant	-	NC_000009.12:g.136418108T>C	gnomAD
PMPCA	Q10713	p.Asp333Ala	COSM1489807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136418562A>C	NCI-TCGA Cosmic
PMPCA	Q10713	p.Phe334Ile	rs930117382	missense variant	-	NC_000009.12:g.136418564T>A	TOPMed,gnomAD
PMPCA	Q10713	p.Ile335Met	rs1406167357	missense variant	-	NC_000009.12:g.136418569C>G	gnomAD
PMPCA	Q10713	p.Leu340Val	rs1358546481	missense variant	-	NC_000009.12:g.136418582T>G	TOPMed
PMPCA	Q10713	p.Met342Leu	rs769502070	missense variant	-	NC_000009.12:g.136418588A>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Met342Thr	rs775076934	missense variant	-	NC_000009.12:g.136418589T>C	ExAC,gnomAD
PMPCA	Q10713	p.Met342Val	rs769502070	missense variant	-	NC_000009.12:g.136418588A>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Met343Arg	rs142338782	missense variant	-	NC_000009.12:g.136418592T>G	ESP,ExAC,TOPMed
PMPCA	Q10713	p.Met344Ile	rs891374835	missense variant	-	NC_000009.12:g.136418596G>T	gnomAD
PMPCA	Q10713	p.Gly345Asp	rs567377477	missense variant	-	NC_000009.12:g.136418598G>A	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Gly346Arg	rs1304524264	missense variant	-	NC_000009.12:g.136418600G>A	TOPMed,gnomAD
PMPCA	Q10713	p.Ser351Leu	rs762226253	missense variant	-	NC_000009.12:g.136418616C>T	ExAC,gnomAD
PMPCA	Q10713	p.Ser351Ter	rs762226253	stop gained	-	NC_000009.12:g.136418616C>A	ExAC,gnomAD
PMPCA	Q10713	p.Ala352Thr	rs139245364	missense variant	-	NC_000009.12:g.136418618G>A	ESP
PMPCA	Q10713	p.Gly353Ser	rs1238341198	missense variant	-	NC_000009.12:g.136418621G>A	TOPMed
PMPCA	Q10713	p.Gly354Glu	rs1355468386	missense variant	-	NC_000009.12:g.136418625G>A	gnomAD
PMPCA	Q10713	p.Pro355Ala	rs753981396	missense variant	-	NC_000009.12:g.136418627C>G	ExAC,gnomAD
PMPCA	Q10713	p.Gly356Ser	RCV000207220	missense variant	Normal pressure hydrocephalus	NC_000009.12:g.136418630G>A	ClinVar
PMPCA	Q10713	p.Gly356Ser	rs768643552	missense variant	-	NC_000009.12:g.136418630G>A	gnomAD
PMPCA	Q10713	p.Gly356Arg	rs768643552	missense variant	-	NC_000009.12:g.136418630G>C	gnomAD
PMPCA	Q10713	p.Lys357Glu	rs201334936	missense variant	-	NC_000009.12:g.136418633A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Met359Val	rs751526086	missense variant	-	NC_000009.12:g.136418639A>G	ExAC,gnomAD
PMPCA	Q10713	p.Phe360Ser	rs1215303041	missense variant	-	NC_000009.12:g.136418643T>C	TOPMed
PMPCA	Q10713	p.Ser361Phe	rs1179713369	missense variant	-	NC_000009.12:g.136418646C>T	gnomAD
PMPCA	Q10713	p.Arg362Ser	rs546508178	missense variant	-	NC_000009.12:g.136418650G>C	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Tyr364Cys	rs781137425	missense variant	-	NC_000009.12:g.136418655A>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu365Pro	rs769521470	missense variant	-	NC_000009.12:g.136418658T>C	ExAC,gnomAD
PMPCA	Q10713	p.Val367Met	rs1461274243	missense variant	-	NC_000009.12:g.136418663G>A	gnomAD
PMPCA	Q10713	p.Asn369Ser	rs774991147	missense variant	-	NC_000009.12:g.136418670A>G	ExAC,gnomAD
PMPCA	Q10713	p.Arg370Ser	rs1305913853	missense variant	-	NC_000009.12:g.136418828G>C	TOPMed
PMPCA	Q10713	p.His372Pro	rs1165298940	missense variant	-	NC_000009.12:g.136418833A>C	gnomAD
PMPCA	Q10713	p.His372Gln	rs147737752	missense variant	-	NC_000009.12:g.136418834C>G	ESP,TOPMed
PMPCA	Q10713	p.Trp373Ter	rs1315798209	stop gained	-	NC_000009.12:g.136418836G>A	gnomAD
PMPCA	Q10713	p.Trp373Ter	rs1365937480	stop gained	-	NC_000009.12:g.136418837G>A	gnomAD
PMPCA	Q10713	p.Met374Thr	COSM3905678	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136418839T>C	NCI-TCGA Cosmic
PMPCA	Q10713	p.Met374Ile	rs1359292249	missense variant	-	NC_000009.12:g.136418840G>A	TOPMed,gnomAD
PMPCA	Q10713	p.Tyr375Asp	rs1419060729	missense variant	-	NC_000009.12:g.136418841T>G	TOPMed,gnomAD
PMPCA	Q10713	p.Ala377Thr	RCV000207168	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136418847G>A	ClinVar
PMPCA	Q10713	p.Ala377Ser	rs753611141	missense variant	-	NC_000009.12:g.136418847G>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala377Val	RCV000624762	missense variant	Inborn genetic diseases	NC_000009.12:g.136418848C>T	ClinVar
PMPCA	Q10713	p.Ala377Thr	RCV000207133	missense variant	Normal pressure hydrocephalus	NC_000009.12:g.136418847G>A	ClinVar
PMPCA	Q10713	p.Ala377Thr	rs753611141	missense variant	-	NC_000009.12:g.136418847G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala377Val	rs963172852	missense variant	-	NC_000009.12:g.136418848C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Thr378Ile	rs142652706	missense variant	-	NC_000009.12:g.136418851C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.His381Arg	rs778499148	missense variant	-	NC_000009.12:g.136418860A>G	ExAC,gnomAD
PMPCA	Q10713	p.Ser383Thr	rs747695631	missense variant	-	NC_000009.12:g.136418866G>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser383Ile	rs747695631	missense variant	-	NC_000009.12:g.136418866G>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Tyr384Cys	rs1338408845	missense variant	-	NC_000009.12:g.136418869A>G	gnomAD
PMPCA	Q10713	p.Tyr384Ter	rs1237165159	stop gained	-	NC_000009.12:g.136418869dup	TOPMed
PMPCA	Q10713	p.Glu385Gln	rs554330179	missense variant	-	NC_000009.12:g.136418871G>C	TOPMed,gnomAD
PMPCA	Q10713	p.Glu385Lys	rs554330179	missense variant	-	NC_000009.12:g.136418871G>A	TOPMed,gnomAD
PMPCA	Q10713	p.Glu385Asp	rs374496927	missense variant	-	NC_000009.12:g.136418873G>C	ESP,ExAC,gnomAD
PMPCA	Q10713	p.Glu385Asp	rs374496927	missense variant	-	NC_000009.12:g.136418873G>T	ESP,ExAC,gnomAD
PMPCA	Q10713	p.Thr387Pro	rs747465871	missense variant	-	NC_000009.12:g.136418877A>C	ExAC,gnomAD
PMPCA	Q10713	p.Thr387Ala	rs747465871	missense variant	-	NC_000009.12:g.136418877A>G	ExAC,gnomAD
PMPCA	Q10713	p.Leu389Arg	rs1209262204	missense variant	-	NC_000009.12:g.136418884T>G	TOPMed
PMPCA	Q10713	p.Leu390Val	rs1156402838	missense variant	-	NC_000009.12:g.136418886C>G	gnomAD
PMPCA	Q10713	p.Ile392Leu	rs746193266	missense variant	-	NC_000009.12:g.136418892A>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ile392Met	rs141801843	missense variant	-	NC_000009.12:g.136418894C>G	ESP
PMPCA	Q10713	p.Ala394Thr	rs143494427	missense variant	-	NC_000009.12:g.136418898G>A	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser395Gly	rs775836847	missense variant	-	NC_000009.12:g.136418901A>G	ExAC,gnomAD
PMPCA	Q10713	p.Ala396Thr	rs764270309	missense variant	-	NC_000009.12:g.136418904G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Asp397His	rs763357088	missense variant	-	NC_000009.12:g.136418907G>C	TOPMed,gnomAD
PMPCA	Q10713	p.Asp397Asn	rs763357088	missense variant	-	NC_000009.12:g.136418907G>A	TOPMed,gnomAD
PMPCA	Q10713	p.Asp397Glu	rs1302792454	missense variant	-	NC_000009.12:g.136418909C>A	TOPMed
PMPCA	Q10713	p.Asp397Tyr	rs763357088	missense variant	-	NC_000009.12:g.136418907G>T	TOPMed,gnomAD
PMPCA	Q10713	p.Val401Leu	rs780583575	missense variant	-	NC_000009.12:g.136419044G>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val401Phe	rs780583575	missense variant	-	NC_000009.12:g.136419044G>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg402Ter	rs534750502	stop gained	-	NC_000009.12:g.136419047C>T	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg402Gln	rs769031961	missense variant	-	NC_000009.12:g.136419048G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg402Gly	rs534750502	missense variant	-	NC_000009.12:g.136419047C>G	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg402Pro	rs769031961	missense variant	-	NC_000009.12:g.136419048G>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Glu403Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136419050G>A	NCI-TCGA
PMPCA	Q10713	p.Val405Ile	rs779165807	missense variant	-	NC_000009.12:g.136419056G>A	ExAC,gnomAD
PMPCA	Q10713	p.Glu406Asp	rs1324764959	missense variant	-	NC_000009.12:g.136419061A>T	gnomAD
PMPCA	Q10713	p.Ile407Leu	rs1375622647	missense variant	-	NC_000009.12:g.136419062A>C	gnomAD
PMPCA	Q10713	p.Thr409Ile	rs368653146	missense variant	-	NC_000009.12:g.136419069C>T	ExAC,gnomAD
PMPCA	Q10713	p.Lys410Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136419073G>T	NCI-TCGA
PMPCA	Q10713	p.Lys410Glu	rs1383395152	missense variant	-	NC_000009.12:g.136419071A>G	TOPMed
PMPCA	Q10713	p.Glu411Gln	rs1388185881	missense variant	-	NC_000009.12:g.136419074G>C	TOPMed
PMPCA	Q10713	p.Phe412Leu	COSM5153319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136419079T>A	NCI-TCGA Cosmic
PMPCA	Q10713	p.Met415Lys	rs1396338384	missense variant	-	NC_000009.12:g.136419087T>A	TOPMed
PMPCA	Q10713	p.Gly417Ter	rs377031022	stop gained	-	NC_000009.12:g.136419092G>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Gly417Glu	rs369695887	missense variant	-	NC_000009.12:g.136419093G>A	ESP,ExAC,gnomAD
PMPCA	Q10713	p.Gly417Arg	rs377031022	missense variant	-	NC_000009.12:g.136419092G>A	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Val419Met	rs751214293	missense variant	-	NC_000009.12:g.136419098G>A	ExAC,TOPMed
PMPCA	Q10713	p.Asp420Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136419101G>T	NCI-TCGA
PMPCA	Q10713	p.Thr421Ala	rs761300397	missense variant	-	NC_000009.12:g.136419104A>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Thr421Met	rs201305421	missense variant	-	NC_000009.12:g.136419105C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Val422Leu	rs781266365	missense variant	-	NC_000009.12:g.136421832G>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu424Val	rs750424974	missense variant	-	NC_000009.12:g.136421838C>G	ExAC,gnomAD
PMPCA	Q10713	p.Arg426Gln	rs1386521541	missense variant	-	NC_000009.12:g.136421845G>A	TOPMed,gnomAD
PMPCA	Q10713	p.Arg426Ter	rs1402094001	stop gained	-	NC_000009.12:g.136421844C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Ala427Pro	rs778685666	missense variant	-	NC_000009.12:g.136421847G>C	ExAC,gnomAD
PMPCA	Q10713	p.Thr429Met	rs541550189	missense variant	-	NC_000009.12:g.136421854C>T	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser433Pro	rs770649202	missense variant	-	NC_000009.12:g.136421865T>C	ExAC,gnomAD
PMPCA	Q10713	p.Ser433Ter	rs776303342	stop gained	-	NC_000009.12:g.136421866C>G	ExAC,gnomAD
PMPCA	Q10713	p.Ser433Leu	rs776303342	missense variant	-	NC_000009.12:g.136421866C>T	ExAC,gnomAD
PMPCA	Q10713	p.Met434Val	rs560212236	missense variant	-	NC_000009.12:g.136421868A>G	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Met434Ile	rs770368994	missense variant	-	NC_000009.12:g.136421870G>T	ExAC,gnomAD
PMPCA	Q10713	p.Met434Thr	rs1260217140	missense variant	-	NC_000009.12:g.136421869T>C	gnomAD
PMPCA	Q10713	p.Met436Val	rs775834665	missense variant	-	NC_000009.12:g.136421874A>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Met436Thr	rs201569001	missense variant	-	NC_000009.12:g.136421875T>C	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Met437Ile	rs1489517685	missense variant	-	NC_000009.12:g.136421879G>A	gnomAD
PMPCA	Q10713	p.Asn438Lys	rs1201447185	missense variant	-	NC_000009.12:g.136421882C>G	gnomAD
PMPCA	Q10713	p.Asn438Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136421880A>T	NCI-TCGA
PMPCA	Q10713	p.Glu440Asp	rs1477360088	missense variant	-	NC_000009.12:g.136421888A>C	gnomAD
PMPCA	Q10713	p.Arg442Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136421892A>G	NCI-TCGA
PMPCA	Q10713	p.Pro443Ser	rs762047870	missense variant	-	NC_000009.12:g.136421895C>T	ExAC,gnomAD
PMPCA	Q10713	p.Val444Met	rs767690696	missense variant	-	NC_000009.12:g.136421898G>A	ExAC,gnomAD
PMPCA	Q10713	p.Ile445Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136421902T>G	NCI-TCGA
PMPCA	Q10713	p.Phe446Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136421904T>A	NCI-TCGA
PMPCA	Q10713	p.Glu447Lys	rs778968490	missense variant	-	NC_000009.12:g.136421907G>A	ExAC,gnomAD
PMPCA	Q10713	p.Glu447Gly	rs1296866941	missense variant	-	NC_000009.12:g.136421908A>G	gnomAD
PMPCA	Q10713	p.Val453Met	rs958066678	missense variant	-	NC_000009.12:g.136421925G>A	gnomAD
PMPCA	Q10713	p.Leu454Pro	rs988068747	missense variant	-	NC_000009.12:g.136421929T>C	TOPMed,gnomAD
PMPCA	Q10713	p.Thr456Ser	rs758341158	missense variant	-	NC_000009.12:g.136421935C>G	ExAC,gnomAD
PMPCA	Q10713	p.Thr456Ile	rs758341158	missense variant	-	NC_000009.12:g.136421935C>T	ExAC,gnomAD
PMPCA	Q10713	p.Arg457Cys	rs777721128	missense variant	-	NC_000009.12:g.136421937C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg457Gly	rs777721128	missense variant	-	NC_000009.12:g.136421937C>G	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg457His	rs141619490	missense variant	-	NC_000009.12:g.136421938G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser458Phe	rs150094306	missense variant	-	NC_000009.12:g.136421941C>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Lys460Arg	rs1260930994	missense variant	-	NC_000009.12:g.136421947A>G	gnomAD
PMPCA	Q10713	p.Pro462Ser	rs769172549	missense variant	-	NC_000009.12:g.136421952C>T	ExAC,gnomAD
PMPCA	Q10713	p.His463Tyr	rs763384655	missense variant	-	NC_000009.12:g.136421955C>T	ExAC,gnomAD
PMPCA	Q10713	p.Glu464Lys	rs774729360	missense variant	-	NC_000009.12:g.136421958G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Cys466Ser	rs767780538	missense variant	-	NC_000009.12:g.136421964T>A	ExAC,gnomAD
PMPCA	Q10713	p.Cys466Arg	rs767780538	missense variant	-	NC_000009.12:g.136421964T>C	ExAC,gnomAD
PMPCA	Q10713	p.Thr467Met	rs750600439	missense variant	-	NC_000009.12:g.136421968C>T	ExAC,gnomAD
PMPCA	Q10713	p.Thr467Arg	rs750600439	missense variant	-	NC_000009.12:g.136421968C>G	ExAC,gnomAD
PMPCA	Q10713	p.Arg470Cys	rs1420778267	missense variant	-	NC_000009.12:g.136421976C>T	gnomAD
PMPCA	Q10713	p.Asn471Lys	rs746184762	missense variant	-	NC_000009.12:g.136423099C>G	ExAC,gnomAD
PMPCA	Q10713	p.Asn471Tyr	rs781699307	missense variant	-	NC_000009.12:g.136423097A>T	ExAC,gnomAD
PMPCA	Q10713	p.Asn471Ser	rs1163549812	missense variant	-	NC_000009.12:g.136423098A>G	TOPMed
PMPCA	Q10713	p.Val472Ala	rs780401832	missense variant	-	NC_000009.12:g.136423101T>C	ExAC,gnomAD
PMPCA	Q10713	p.Val472Met	rs182007799	missense variant	-	NC_000009.12:g.136423100G>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Lys473Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136423105G>T	NCI-TCGA
PMPCA	Q10713	p.Pro474Leu	rs749386097	missense variant	-	NC_000009.12:g.136423107C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Glu475Gly	rs546087378	missense variant	-	NC_000009.12:g.136423110A>G	1000Genomes
PMPCA	Q10713	p.Glu475Asp	rs564293153	missense variant	-	NC_000009.12:g.136423111A>T	1000Genomes,ExAC,gnomAD
PMPCA	Q10713	p.Glu475Lys	rs774232409	missense variant	-	NC_000009.12:g.136423109G>A	ExAC,gnomAD
PMPCA	Q10713	p.Asp476Gly	rs1205502141	missense variant	-	NC_000009.12:g.136423113A>G	gnomAD
PMPCA	Q10713	p.Asp476Asn	rs1484694087	missense variant	-	NC_000009.12:g.136423112G>A	TOPMed
PMPCA	Q10713	p.Asp476Val	rs1205502141	missense variant	-	NC_000009.12:g.136423113A>T	gnomAD
PMPCA	Q10713	p.Val480Ile	rs770809394	missense variant	-	NC_000009.12:g.136423124G>A	ExAC,gnomAD
PMPCA	Q10713	p.Ala481Pro	rs759294217	missense variant	-	NC_000009.12:g.136423127G>C	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ala481Thr	rs759294217	missense variant	-	NC_000009.12:g.136423127G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ser482Phe	COSM3655734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136423131C>T	NCI-TCGA Cosmic
PMPCA	Q10713	p.Lys483Asn	rs764914117	missense variant	-	NC_000009.12:g.136423135G>C	ExAC,gnomAD
PMPCA	Q10713	p.Lys483Glu	rs1480634867	missense variant	-	NC_000009.12:g.136423133A>G	TOPMed,gnomAD
PMPCA	Q10713	p.Met484Ile	rs370801019	missense variant	-	NC_000009.12:g.136423138G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu485Phe	rs1408951909	missense variant	-	NC_000009.12:g.136423139C>T	gnomAD
PMPCA	Q10713	p.Leu485Ile	rs1408951909	missense variant	-	NC_000009.12:g.136423139C>A	gnomAD
PMPCA	Q10713	p.Arg486Gln	rs750974011	missense variant	-	NC_000009.12:g.136423143G>A	ExAC,gnomAD
PMPCA	Q10713	p.Arg486Ter	rs763664183	stop gained	-	NC_000009.12:g.136423142C>T	ExAC,gnomAD
PMPCA	Q10713	p.Pro489Leu	rs757804177	missense variant	-	NC_000009.12:g.136423152C>T	ExAC,gnomAD
PMPCA	Q10713	p.Ala490Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136423154G>A	NCI-TCGA
PMPCA	Q10713	p.Ala493Thr	rs373832306	missense variant	-	NC_000009.12:g.136423163G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Gly495Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136423169G>T	NCI-TCGA
PMPCA	Q10713	p.Asp496Glu	rs1402044437	missense variant	-	NC_000009.12:g.136423174C>A	TOPMed
PMPCA	Q10713	p.Thr502Met	rs1490474361	missense variant	-	NC_000009.12:g.136423191C>T	gnomAD
PMPCA	Q10713	p.Thr502Lys	rs1490474361	missense variant	-	NC_000009.12:g.136423191C>A	gnomAD
PMPCA	Q10713	p.His505Tyr	rs1260706411	missense variant	-	NC_000009.12:g.136423199C>T	gnomAD
PMPCA	Q10713	p.His505Leu	rs146286285	missense variant	-	NC_000009.12:g.136423200A>T	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.His505Gln	rs1186720733	missense variant	-	NC_000009.12:g.136423201C>A	gnomAD
PMPCA	Q10713	p.Gln507His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136423207G>C	NCI-TCGA
PMPCA	Q10713	p.Thr508Ala	rs745716223	missense variant	-	NC_000009.12:g.136423208A>G	ExAC,gnomAD
PMPCA	Q10713	p.Thr508Pro	rs745716223	missense variant	-	NC_000009.12:g.136423208A>C	ExAC,gnomAD
PMPCA	Q10713	p.Ala509Thr	rs368032224	missense variant	-	NC_000009.12:g.136423211G>A	ESP,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Leu510ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136423208_136423209insCCGC	NCI-TCGA
PMPCA	Q10713	p.Ser511Leu	rs762679492	missense variant	-	NC_000009.12:g.136423218C>T	ExAC,gnomAD
PMPCA	Q10713	p.Ser512Thr	rs1431996460	missense variant	-	NC_000009.12:g.136423221G>C	gnomAD
PMPCA	Q10713	p.Ser512Arg	rs1422287087	missense variant	-	NC_000009.12:g.136423222T>A	TOPMed
PMPCA	Q10713	p.Asp514Gly	rs773942515	missense variant	-	NC_000009.12:g.136423227A>G	ExAC,gnomAD
PMPCA	Q10713	p.Gly515Arg	rs869025293	missense variant	-	NC_000009.12:g.136423229G>A	gnomAD
PMPCA	Q10713	p.Gly515Arg	RCV000207072	missense variant	Spinocerebellar ataxia, autosomal recessive 2 (SCAR2)	NC_000009.12:g.136423229G>A	ClinVar
PMPCA	Q10713	p.Arg516His	rs768196711	missense variant	-	NC_000009.12:g.136423233G>A	ExAC,gnomAD
PMPCA	Q10713	p.Arg516Cys	rs745718181	missense variant	-	NC_000009.12:g.136423232C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Thr520Met	rs756626552	missense variant	-	NC_000009.12:g.136423245C>T	ExAC,gnomAD
PMPCA	Q10713	p.Arg522Gln	rs561780092	missense variant	-	NC_000009.12:g.136423251G>A	1000Genomes,ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg522Trp	rs1024902017	missense variant	-	NC_000009.12:g.136423250C>T	TOPMed,gnomAD
PMPCA	Q10713	p.Leu523Val	rs754105230	missense variant	-	NC_000009.12:g.136423253C>G	ExAC,gnomAD
PMPCA	Q10713	p.Phe524Leu	rs1385264986	missense variant	-	NC_000009.12:g.136423256T>C	gnomAD
PMPCA	Q10713	p.Arg525Trp	rs778968155	missense variant	-	NC_000009.12:g.136423259C>T	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Arg525Gln	rs748306818	missense variant	-	NC_000009.12:g.136423260G>A	ExAC,TOPMed,gnomAD
PMPCA	Q10713	p.Ter526Glu	rs1320619683	stop lost	-	NC_000009.12:g.136423262T>G	gnomAD
FOXF2	Q12947	p.Glu4Gln	rs1366299873	missense variant	-	NC_000006.12:g.1389957G>C	TOPMed,gnomAD
FOXF2	Q12947	p.Glu4Lys	rs1366299873	missense variant	-	NC_000006.12:g.1389957G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Gly5Ser	rs951001033	missense variant	-	NC_000006.12:g.1389960G>A	TOPMed
FOXF2	Q12947	p.Gly6Arg	rs1236608519	missense variant	-	NC_000006.12:g.1389963G>C	TOPMed
FOXF2	Q12947	p.Pro7Thr	rs1306253696	missense variant	-	NC_000006.12:g.1389966C>A	gnomAD
FOXF2	Q12947	p.Arg13His	rs1342030506	missense variant	-	NC_000006.12:g.1389985G>A	gnomAD
FOXF2	Q12947	p.Arg14His	rs1217540703	missense variant	-	NC_000006.12:g.1389988G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ala15Ser	rs1248973502	missense variant	-	NC_000006.12:g.1389990G>T	gnomAD
FOXF2	Q12947	p.Cys16Arg	rs1189009649	missense variant	-	NC_000006.12:g.1389993T>C	gnomAD
FOXF2	Q12947	p.Cys16Phe	rs1315993952	missense variant	-	NC_000006.12:g.1389994G>T	TOPMed
FOXF2	Q12947	p.Pro18Leu	rs939048280	missense variant	-	NC_000006.12:g.1390000C>T	TOPMed
FOXF2	Q12947	p.Pro18Ser	rs927643069	missense variant	-	NC_000006.12:g.1389999C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Pro18Arg	rs939048280	missense variant	-	NC_000006.12:g.1390000C>G	TOPMed
FOXF2	Q12947	p.Pro20Ser	rs1385833913	missense variant	-	NC_000006.12:g.1390005C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Gly21Ser	rs1408338769	missense variant	-	NC_000006.12:g.1390008G>A	TOPMed
FOXF2	Q12947	p.Gly21Arg	rs1408338769	missense variant	-	NC_000006.12:g.1390008G>C	TOPMed
FOXF2	Q12947	p.Gly21Asp	rs990944119	missense variant	-	NC_000006.12:g.1390009G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ala22Thr	rs1172986588	missense variant	-	NC_000006.12:g.1390011G>A	TOPMed
FOXF2	Q12947	p.Ala25Gly	rs916338466	missense variant	-	NC_000006.12:g.1390021C>G	TOPMed,gnomAD
FOXF2	Q12947	p.Ala26Val	rs1377217421	missense variant	-	NC_000006.12:g.1390024C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Pro30Gln	rs1316162278	missense variant	-	NC_000006.12:g.1390036C>A	gnomAD
FOXF2	Q12947	p.Pro31Gln	rs1243149072	missense variant	-	NC_000006.12:g.1390039C>A	TOPMed
FOXF2	Q12947	p.Pro32Leu	rs1226763139	missense variant	-	NC_000006.12:g.1390042C>T	gnomAD
FOXF2	Q12947	p.Ala37Thr	rs1482054990	missense variant	-	NC_000006.12:g.1390056G>A	gnomAD
FOXF2	Q12947	p.Ala38Thr	rs1183438097	missense variant	-	NC_000006.12:g.1390059G>A	gnomAD
FOXF2	Q12947	p.Ala39Val	rs1240095468	missense variant	-	NC_000006.12:g.1390063C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Ala39Thr	rs1243463177	missense variant	-	NC_000006.12:g.1390062G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ala40Pro	rs1163121584	missense variant	-	NC_000006.12:g.1390065G>C	TOPMed
FOXF2	Q12947	p.Ala41Thr	rs778501522	missense variant	-	NC_000006.12:g.1390068G>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala41Ser	rs778501522	missense variant	-	NC_000006.12:g.1390068G>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala41Val	rs890426090	missense variant	-	NC_000006.12:g.1390069C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Pro42Arg	rs1244710115	missense variant	-	NC_000006.12:g.1390072C>G	TOPMed
FOXF2	Q12947	p.Pro42Ser	rs771555576	missense variant	-	NC_000006.12:g.1390071C>T	ExAC,TOPMed
FOXF2	Q12947	p.Glu43Lys	rs1175409141	missense variant	-	NC_000006.12:g.1390074G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Glu43Gly	rs900625813	missense variant	-	NC_000006.12:g.1390075A>G	TOPMed,gnomAD
FOXF2	Q12947	p.Glu43Asp	rs1467764105	missense variant	-	NC_000006.12:g.1390076G>T	gnomAD
FOXF2	Q12947	p.Glu43Gln	rs1175409141	missense variant	-	NC_000006.12:g.1390074G>C	TOPMed,gnomAD
FOXF2	Q12947	p.Ser48Cys	rs1300388694	missense variant	-	NC_000006.12:g.1390090C>G	gnomAD
FOXF2	Q12947	p.Ser50Leu	rs770346297	missense variant	-	NC_000006.12:g.1390096C>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ser51Pro	rs1365776037	missense variant	-	NC_000006.12:g.1390098T>C	TOPMed
FOXF2	Q12947	p.Ser52Phe	rs1417518898	missense variant	-	NC_000006.12:g.1390102C>T	TOPMed
FOXF2	Q12947	p.Ala57Val	rs1263559682	missense variant	-	NC_000006.12:g.1390117C>T	gnomAD
FOXF2	Q12947	p.Ala57Thr	rs1222098625	missense variant	-	NC_000006.12:g.1390116G>A	TOPMed
FOXF2	Q12947	p.Ser59Pro	rs1490467102	missense variant	-	NC_000006.12:g.1390122T>C	TOPMed
FOXF2	Q12947	p.Ser60Leu	rs1249862709	missense variant	-	NC_000006.12:g.1390126C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Ser63Phe	rs1475697083	missense variant	-	NC_000006.12:g.1390135C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Asn64Ser	rs763444640	missense variant	-	NC_000006.12:g.1390138A>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ser65Ala	rs1312117808	missense variant	-	NC_000006.12:g.1390140T>G	TOPMed
FOXF2	Q12947	p.Ala66Thr	rs1423083000	missense variant	-	NC_000006.12:g.1390143G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ser67Cys	rs773094257	missense variant	-	NC_000006.12:g.1390146A>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala68Ser	rs1411723054	missense variant	-	NC_000006.12:g.1390149G>T	TOPMed,gnomAD
FOXF2	Q12947	p.Ala68Val	rs374633411	missense variant	-	NC_000006.12:g.1390150C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala68Gly	rs374633411	missense variant	-	NC_000006.12:g.1390150C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Pro69His	rs1346381007	missense variant	-	NC_000006.12:g.1390153C>A	gnomAD
FOXF2	Q12947	p.Pro69Ser	rs1322938028	missense variant	-	NC_000006.12:g.1390152C>T	gnomAD
FOXF2	Q12947	p.Ser70Ala	rs1292435341	missense variant	-	NC_000006.12:g.1390155T>G	gnomAD
FOXF2	Q12947	p.Cys73Trp	rs1364823583	missense variant	-	NC_000006.12:g.1390166C>G	gnomAD
FOXF2	Q12947	p.Lys74Arg	rs1397687135	missense variant	-	NC_000006.12:g.1390168A>G	TOPMed
FOXF2	Q12947	p.Ser75Arg	rs767494112	missense variant	-	NC_000006.12:g.1390172C>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ser75Arg	rs767494112	missense variant	-	NC_000006.12:g.1390172C>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ser75Asn	rs564550058	missense variant	-	NC_000006.12:g.1390171G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala81Pro	rs935167708	missense variant	-	NC_000006.12:g.1390188G>C	TOPMed,gnomAD
FOXF2	Q12947	p.Gly82Ser	rs1245090174	missense variant	-	NC_000006.12:g.1390191G>A	gnomAD
FOXF2	Q12947	p.Gly84Arg	rs764119941	missense variant	-	NC_000006.12:g.1390197G>A	ExAC,gnomAD
FOXF2	Q12947	p.Ser85Arg	rs1411560832	missense variant	-	NC_000006.12:g.1390202C>G	gnomAD
FOXF2	Q12947	p.Gly87Asp	rs1051419177	missense variant	-	NC_000006.12:g.1390207G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ala88Thr	rs72667003	missense variant	-	NC_000006.12:g.1390209G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Lys90Thr	rs1261376361	missense variant	-	NC_000006.12:g.1390216A>C	TOPMed
FOXF2	Q12947	p.Lys90Glu	rs1482994445	missense variant	-	NC_000006.12:g.1390215A>G	TOPMed
FOXF2	Q12947	p.Lys90Asn	rs778734453	missense variant	-	NC_000006.12:g.1390217G>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Lys90Asn	rs778734453	missense variant	-	NC_000006.12:g.1390217G>C	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala91Val	rs1379841105	missense variant	-	NC_000006.12:g.1390219C>T	gnomAD
FOXF2	Q12947	p.Ser92Asn	rs1406285175	missense variant	-	NC_000006.12:g.1390222G>A	gnomAD
FOXF2	Q12947	p.Ser93Leu	rs758050275	missense variant	-	NC_000006.12:g.1390225C>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ser93Pro	rs1303223823	missense variant	-	NC_000006.12:g.1390224T>C	gnomAD
FOXF2	Q12947	p.Ser93Trp	rs758050275	missense variant	-	NC_000006.12:g.1390225C>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Leu95Arg	rs1351080863	missense variant	-	NC_000006.12:g.1390231T>G	gnomAD
FOXF2	Q12947	p.Arg96Leu	rs1227693674	missense variant	-	NC_000006.12:g.1390234G>T	gnomAD
FOXF2	Q12947	p.Pro98Ser	rs770161700	missense variant	-	NC_000006.12:g.1390239C>T	ExAC,gnomAD
FOXF2	Q12947	p.Lys100Arg	rs1338134340	missense variant	-	NC_000006.12:g.1390246A>G	TOPMed
FOXF2	Q12947	p.Pro102Ala	rs1283978023	missense variant	-	NC_000006.12:g.1390251C>G	gnomAD
FOXF2	Q12947	p.Pro102Leu	rs1482198112	missense variant	-	NC_000006.12:g.1390252C>T	gnomAD
FOXF2	Q12947	p.Ile106Val	rs1470198689	missense variant	-	NC_000006.12:g.1390263A>G	TOPMed
FOXF2	Q12947	p.Ser115Asn	rs1027713266	missense variant	-	NC_000006.12:g.1390291G>A	TOPMed
FOXF2	Q12947	p.Pro117Ser	rs775388948	missense variant	-	NC_000006.12:g.1390296C>T	ExAC,gnomAD
FOXF2	Q12947	p.Arg120Cys	rs764126554	missense variant	-	NC_000006.12:g.1390305C>T	ExAC,gnomAD
FOXF2	Q12947	p.Tyr127Cys	rs1197513535	missense variant	-	NC_000006.12:g.1390327A>G	gnomAD
FOXF2	Q12947	p.Gln131Lys	rs764942770	missense variant	-	NC_000006.12:g.1390338C>A	ExAC,gnomAD
FOXF2	Q12947	p.Ala132Glu	rs757938718	missense variant	-	NC_000006.12:g.1390342C>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala132Gly	rs757938718	missense variant	-	NC_000006.12:g.1390342C>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala132Thr	rs201914560	missense variant	-	NC_000006.12:g.1390341G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala132Val	rs757938718	missense variant	-	NC_000006.12:g.1390342C>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Phe136Leu	rs1188443270	missense variant	-	NC_000006.12:g.1390355C>G	gnomAD
FOXF2	Q12947	p.Phe136Tyr	rs754490997	missense variant	-	NC_000006.12:g.1390354T>A	ExAC,gnomAD
FOXF2	Q12947	p.Gly139Ser	rs1316515876	missense variant	-	NC_000006.12:g.1390362G>A	TOPMed
FOXF2	Q12947	p.Gln142Arg	rs1169116418	missense variant	-	NC_000006.12:g.1390372A>G	gnomAD
FOXF2	Q12947	p.Gly143Cys	rs779367418	missense variant	-	NC_000006.12:g.1390374G>T	ExAC,gnomAD
FOXF2	Q12947	p.Ser147Thr	rs1413545187	missense variant	-	NC_000006.12:g.1390386T>A	gnomAD
FOXF2	Q12947	p.Asn155Ile	rs775754407	missense variant	-	NC_000006.12:g.1390411A>T	ExAC,gnomAD
FOXF2	Q12947	p.Glu156Asp	rs1229791635	missense variant	-	NC_000006.12:g.1390415G>C	gnomAD
FOXF2	Q12947	p.Ile159Val	rs1344594693	missense variant	-	NC_000006.12:g.1390422A>G	TOPMed,gnomAD
FOXF2	Q12947	p.Leu161Val	rs1265424814	missense variant	-	NC_000006.12:g.1390428C>G	gnomAD
FOXF2	Q12947	p.Pro162Ser	rs776695372	missense variant	-	NC_000006.12:g.1390431C>T	ExAC,gnomAD
FOXF2	Q12947	p.Lys163Arg	rs1449234862	missense variant	-	NC_000006.12:g.1390435A>G	gnomAD
FOXF2	Q12947	p.Gly164Cys	rs765180772	missense variant	-	NC_000006.12:g.1390437G>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Pro168Leu	rs1173749640	missense variant	-	NC_000006.12:g.1390450C>T	gnomAD
FOXF2	Q12947	p.Pro168Thr	rs1383690197	missense variant	-	NC_000006.12:g.1390449C>A	TOPMed
FOXF2	Q12947	p.Gly169Ser	rs139305490	missense variant	-	NC_000006.12:g.1390452G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.His172Arg	rs1386432336	missense variant	-	NC_000006.12:g.1390462A>G	gnomAD
FOXF2	Q12947	p.His172Leu	rs1386432336	missense variant	-	NC_000006.12:g.1390462A>T	gnomAD
FOXF2	Q12947	p.Trp174Cys	rs1231368617	missense variant	-	NC_000006.12:g.1390469G>T	gnomAD
FOXF2	Q12947	p.Trp174Leu	rs1330551923	missense variant	-	NC_000006.12:g.1390468G>T	gnomAD
FOXF2	Q12947	p.Thr175Ser	rs1285487547	missense variant	-	NC_000006.12:g.1390470A>T	gnomAD
FOXF2	Q12947	p.Asp177His	rs1180240943	missense variant	-	NC_000006.12:g.1390476G>C	TOPMed
FOXF2	Q12947	p.Ser180Asn	rs1266616076	missense variant	-	NC_000006.12:g.1390486G>A	gnomAD
FOXF2	Q12947	p.Phe182Leu	rs1206173054	missense variant	-	NC_000006.12:g.1390491T>C	gnomAD
FOXF2	Q12947	p.Phe184Ser	rs1450587124	missense variant	-	NC_000006.12:g.1390498T>C	gnomAD
FOXF2	Q12947	p.Glu185Ala	rs1465290405	missense variant	-	NC_000006.12:g.1390501A>C	TOPMed,gnomAD
FOXF2	Q12947	p.Gly187Ser	rs923696923	missense variant	-	NC_000006.12:g.1390506G>A	TOPMed
FOXF2	Q12947	p.Phe189Leu	rs752272028	missense variant	-	NC_000006.12:g.1390514C>G	ExAC,gnomAD
FOXF2	Q12947	p.Arg190Cys	rs1361778079	missense variant	-	NC_000006.12:g.1390515C>T	gnomAD
FOXF2	Q12947	p.Arg190Leu	rs1455309506	missense variant	-	NC_000006.12:g.1390516G>T	gnomAD
FOXF2	Q12947	p.Arg191His	rs1159027740	missense variant	-	NC_000006.12:g.1390519G>A	gnomAD
FOXF2	Q12947	p.Arg194Ser	rs1168702424	missense variant	-	NC_000006.12:g.1390527C>A	TOPMed,gnomAD
FOXF2	Q12947	p.Lys199Gln	rs1346457542	missense variant	-	NC_000006.12:g.1390542A>C	gnomAD
FOXF2	Q12947	p.Cys200Phe	rs1286856082	missense variant	-	NC_000006.12:g.1390546G>T	TOPMed,gnomAD
FOXF2	Q12947	p.Cys200Tyr	rs1286856082	missense variant	-	NC_000006.12:g.1390546G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Gln201Leu	rs1319068605	missense variant	-	NC_000006.12:g.1390549A>T	gnomAD
FOXF2	Q12947	p.Ala202Thr	rs1240176314	missense variant	-	NC_000006.12:g.1390551G>A	gnomAD
FOXF2	Q12947	p.Leu203Ile	rs1354848937	missense variant	-	NC_000006.12:g.1390554C>A	gnomAD
FOXF2	Q12947	p.Met206Ile	rs1180951960	missense variant	-	NC_000006.12:g.1390565G>A	gnomAD
FOXF2	Q12947	p.Met206Leu	rs758774206	missense variant	-	NC_000006.12:g.1390563A>T	ExAC,gnomAD
FOXF2	Q12947	p.Met206Thr	rs747187038	missense variant	-	NC_000006.12:g.1390564T>C	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Met206Arg	rs747187038	missense variant	-	NC_000006.12:g.1390564T>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Met206Leu	rs758774206	missense variant	-	NC_000006.12:g.1390563A>C	ExAC,gnomAD
FOXF2	Q12947	p.Arg209Gly	rs776642543	missense variant	-	NC_000006.12:g.1390572C>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Arg209Ser	rs776642543	missense variant	-	NC_000006.12:g.1390572C>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Val210Met	rs748256575	missense variant	-	NC_000006.12:g.1390575G>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Val210Leu	rs748256575	missense variant	-	NC_000006.12:g.1390575G>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Val211Met	rs1422654240	missense variant	-	NC_000006.12:g.1390578G>A	gnomAD
FOXF2	Q12947	p.Ser212Arg	rs1366202928	missense variant	-	NC_000006.12:g.1390583C>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ser212Asn	rs1165568399	missense variant	-	NC_000006.12:g.1390582G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Gly213Asp	rs769901978	missense variant	-	NC_000006.12:g.1390585G>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Gly213Ala	rs769901978	missense variant	-	NC_000006.12:g.1390585G>C	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Gly217Arg	rs1392397921	missense variant	-	NC_000006.12:g.1390596G>A	gnomAD
FOXF2	Q12947	p.Ala218Thr	rs762858189	missense variant	-	NC_000006.12:g.1390599G>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala218Glu	rs1381241235	missense variant	-	NC_000006.12:g.1390600C>A	gnomAD
FOXF2	Q12947	p.Ala218Pro	rs762858189	missense variant	-	NC_000006.12:g.1390599G>C	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala218Ser	rs762858189	missense variant	-	NC_000006.12:g.1390599G>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Pro222Thr	rs1203785383	missense variant	-	NC_000006.12:g.1390611C>A	gnomAD
FOXF2	Q12947	p.Gly224Asp	rs1249302159	missense variant	-	NC_000006.12:g.1390618G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Gly224Val	rs1249302159	missense variant	-	NC_000006.12:g.1390618G>T	TOPMed,gnomAD
FOXF2	Q12947	p.Ala229Glu	rs759172368	missense variant	-	NC_000006.12:g.1390633C>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala229Gly	rs759172368	missense variant	-	NC_000006.12:g.1390633C>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala229Thr	rs1255152811	missense variant	-	NC_000006.12:g.1390632G>A	gnomAD
FOXF2	Q12947	p.Pro230Leu	rs1448979553	missense variant	-	NC_000006.12:g.1390636C>T	gnomAD
FOXF2	Q12947	p.Pro230Ser	rs567798985	missense variant	-	NC_000006.12:g.1390635C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Pro231Leu	rs760235899	missense variant	-	NC_000006.12:g.1390639C>T	ExAC,gnomAD
FOXF2	Q12947	p.Ser232Trp	rs1294268272	missense variant	-	NC_000006.12:g.1390642C>G	gnomAD
FOXF2	Q12947	p.Ser232Leu	rs1294268272	missense variant	-	NC_000006.12:g.1390642C>T	gnomAD
FOXF2	Q12947	p.Ala233Glu	rs886525649	missense variant	-	NC_000006.12:g.1390645C>A	TOPMed
FOXF2	Q12947	p.Ala233Thr	rs1049098009	missense variant	-	NC_000006.12:g.1390644G>A	TOPMed
FOXF2	Q12947	p.Pro234Thr	rs199884034	missense variant	-	NC_000006.12:g.1390647C>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Cys237Tyr	rs780406929	missense variant	-	NC_000006.12:g.1390657G>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.His238Asn	rs755152441	missense variant	-	NC_000006.12:g.1390659C>A	ExAC,gnomAD
FOXF2	Q12947	p.Ser239Gly	rs1308907938	missense variant	-	NC_000006.12:g.1390662A>G	gnomAD
FOXF2	Q12947	p.Ser239Arg	rs1227618963	missense variant	-	NC_000006.12:g.1390664C>G	gnomAD
FOXF2	Q12947	p.Gly242Val	rs1040644970	missense variant	-	NC_000006.12:g.1390672G>T	TOPMed
FOXF2	Q12947	p.Gly242Cys	rs1459777664	missense variant	-	NC_000006.12:g.1390671G>T	gnomAD
FOXF2	Q12947	p.Tyr243Asn	rs1196328719	missense variant	-	NC_000006.12:g.1390674T>A	gnomAD
FOXF2	Q12947	p.Tyr243Ter	rs1243741752	stop gained	-	NC_000006.12:g.1390675dup	gnomAD
FOXF2	Q12947	p.Gly244Arg	rs896713826	missense variant	-	NC_000006.12:g.1390677G>C	TOPMed
FOXF2	Q12947	p.Leu246Ile	rs1464374409	missense variant	-	NC_000006.12:g.1390683C>A	gnomAD
FOXF2	Q12947	p.Leu246His	rs1200674901	missense variant	-	NC_000006.12:g.1390684T>A	TOPMed
FOXF2	Q12947	p.Asp247Glu	rs1277883043	missense variant	-	NC_000006.12:g.1390688C>A	TOPMed,gnomAD
FOXF2	Q12947	p.Met248Leu	rs1184867249	missense variant	-	NC_000006.12:g.1390689A>T	gnomAD
FOXF2	Q12947	p.Met249Thr	rs1012478738	missense variant	-	NC_000006.12:g.1390693T>C	TOPMed,gnomAD
FOXF2	Q12947	p.Met249Leu	rs1421656539	missense variant	-	NC_000006.12:g.1390692A>T	gnomAD
FOXF2	Q12947	p.Ala251Pro	rs1447031654	missense variant	-	NC_000006.12:g.1390698G>C	TOPMed
FOXF2	Q12947	p.Gly252Cys	rs1027794350	missense variant	-	NC_000006.12:g.1390701G>T	TOPMed
FOXF2	Q12947	p.Gly252Ser	rs1027794350	missense variant	-	NC_000006.12:g.1390701G>A	TOPMed
FOXF2	Q12947	p.Asp254Glu	rs1325600534	missense variant	-	NC_000006.12:g.1390709C>A	TOPMed
FOXF2	Q12947	p.Ala255Thr	rs1023908627	missense variant	-	NC_000006.12:g.1390710G>A	TOPMed
FOXF2	Q12947	p.Ala257Thr	rs1005703101	missense variant	-	NC_000006.12:g.1390716G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Gly258Asp	rs748419763	missense variant	-	NC_000006.12:g.1390720G>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala259Asp	rs769850882	missense variant	-	NC_000006.12:g.1390723C>A	ExAC,gnomAD
FOXF2	Q12947	p.Ser261Arg	rs961332909	missense variant	-	NC_000006.12:g.1390730C>A	TOPMed
FOXF2	Q12947	p.His262Tyr	rs1286620196	missense variant	-	NC_000006.12:g.1390731C>T	gnomAD
FOXF2	Q12947	p.Ala263Val	rs777783638	missense variant	-	NC_000006.12:g.1390735C>T	ExAC
FOXF2	Q12947	p.His264Tyr	rs1363404609	missense variant	-	NC_000006.12:g.1390737C>T	gnomAD
FOXF2	Q12947	p.His266Asn	rs969920347	missense variant	-	NC_000006.12:g.1390743C>A	TOPMed
FOXF2	Q12947	p.His268Tyr	rs1282299944	missense variant	-	NC_000006.12:g.1390749C>T	gnomAD
FOXF2	Q12947	p.His271Arg	rs570065652	missense variant	-	NC_000006.12:g.1390759A>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.His272Asp	rs1191705892	missense variant	-	NC_000006.12:g.1390761C>G	gnomAD
FOXF2	Q12947	p.Val273Leu	rs919848863	missense variant	-	NC_000006.12:g.1390764G>C	TOPMed,gnomAD
FOXF2	Q12947	p.His275Tyr	rs1316271903	missense variant	-	NC_000006.12:g.1390770C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Met276Lys	rs935877865	missense variant	-	NC_000006.12:g.1390774T>A	TOPMed,gnomAD
FOXF2	Q12947	p.Met276Arg	rs935877865	missense variant	-	NC_000006.12:g.1390774T>G	TOPMed,gnomAD
FOXF2	Q12947	p.Met276Leu	rs1216479990	missense variant	-	NC_000006.12:g.1390773A>T	TOPMed
FOXF2	Q12947	p.Met276Ile	rs1243938081	missense variant	-	NC_000006.12:g.1390775G>A	gnomAD
FOXF2	Q12947	p.Pro278Arg	rs747109983	missense variant	-	NC_000006.12:g.1390780C>G	TOPMed
FOXF2	Q12947	p.Pro278His	rs747109983	missense variant	-	NC_000006.12:g.1390780C>A	TOPMed
FOXF2	Q12947	p.Pro278Ser	rs756284004	missense variant	-	NC_000006.12:g.1390779C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Pro280Leu	rs944789166	missense variant	-	NC_000006.12:g.1390786C>T	TOPMed
FOXF2	Q12947	p.Pro280Ser	rs1442162454	missense variant	-	NC_000006.12:g.1390785C>T	TOPMed
FOXF2	Q12947	p.Gly281Val	rs1384292974	missense variant	-	NC_000006.12:g.1390789G>T	TOPMed
FOXF2	Q12947	p.Gly281Ser	rs907956437	missense variant	-	NC_000006.12:g.1390788G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Thr283Asn	rs1040363407	missense variant	-	NC_000006.12:g.1390795C>A	TOPMed
FOXF2	Q12947	p.Met285Val	rs1445979559	missense variant	-	NC_000006.12:g.1390800A>G	TOPMed
FOXF2	Q12947	p.Ala286Val	rs1243241641	missense variant	-	NC_000006.12:g.1390804C>T	TOPMed
FOXF2	Q12947	p.Ser287Asn	rs1176509309	missense variant	-	NC_000006.12:g.1390807G>A	TOPMed
FOXF2	Q12947	p.Val290Met	rs770789563	missense variant	-	NC_000006.12:g.1390815G>A	ExAC,gnomAD
FOXF2	Q12947	p.Pro291Ser	rs1161854825	missense variant	-	NC_000006.12:g.1390818C>T	gnomAD
FOXF2	Q12947	p.Ala292Thr	rs868209723	missense variant	-	NC_000006.12:g.1390821G>A	gnomAD
FOXF2	Q12947	p.Gly293Arg	rs1438577780	missense variant	-	NC_000006.12:g.1390824G>A	TOPMed
FOXF2	Q12947	p.Gly296Asp	rs1343267788	missense variant	-	NC_000006.12:g.1390834G>A	gnomAD
FOXF2	Q12947	p.Ala299Thr	rs932195449	missense variant	-	NC_000006.12:g.1390842G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ala299Val	rs759285624	missense variant	-	NC_000006.12:g.1390843C>T	ExAC,gnomAD
FOXF2	Q12947	p.Ala299Glu	rs759285624	missense variant	-	NC_000006.12:g.1390843C>A	ExAC,gnomAD
FOXF2	Q12947	p.Ala300Gly	RCV000190285	missense variant	-	NC_000006.12:g.1390846C>G	ClinVar
FOXF2	Q12947	p.Ala300Gly	rs587777898	missense variant	-	NC_000006.12:g.1390846C>G	-
FOXF2	Q12947	p.Ala300Ser	rs1286306706	missense variant	-	NC_000006.12:g.1390845G>T	gnomAD
FOXF2	Q12947	p.Gly302Ser	rs772037115	missense variant	-	NC_000006.12:g.1390851G>A	ExAC,gnomAD
FOXF2	Q12947	p.Gly303Ser	rs1289612903	missense variant	-	NC_000006.12:g.1390854G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Asp307Gly	rs1468973102	missense variant	-	NC_000006.12:g.1390867A>G	gnomAD
FOXF2	Q12947	p.Asp307Asn	rs1012838111	missense variant	-	NC_000006.12:g.1390866G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Tyr308Asp	rs1179291891	missense variant	-	NC_000006.12:g.1390869T>G	gnomAD
FOXF2	Q12947	p.Gly309Arg	rs1405225983	missense variant	-	NC_000006.12:g.1390872G>A	gnomAD
FOXF2	Q12947	p.Gly309Ala	rs1162378472	missense variant	-	NC_000006.12:g.1390873G>C	gnomAD
FOXF2	Q12947	p.Pro310Ser	rs775264769	missense variant	-	NC_000006.12:g.1390875C>T	ExAC,gnomAD
FOXF2	Q12947	p.Asp311Asn	rs1353528957	missense variant	-	NC_000006.12:g.1390878G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Asp311His	rs1353528957	missense variant	-	NC_000006.12:g.1390878G>C	TOPMed,gnomAD
FOXF2	Q12947	p.Ser313Asn	rs1399023862	missense variant	-	NC_000006.12:g.1390885G>A	gnomAD
FOXF2	Q12947	p.Ser313Gly	rs760468619	missense variant	-	NC_000006.12:g.1390884A>G	ExAC,gnomAD
FOXF2	Q12947	p.Ser314Arg	rs1049362749	missense variant	-	NC_000006.12:g.1390889C>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ser319Leu	rs1000527471	missense variant	-	NC_000006.12:g.1390903C>T	TOPMed
FOXF2	Q12947	p.Pro321Leu	rs1272619762	missense variant	-	NC_000006.12:g.1390909C>T	gnomAD
FOXF2	Q12947	p.Pro321Ser	rs1223294050	missense variant	-	NC_000006.12:g.1390908C>T	gnomAD
FOXF2	Q12947	p.Met323Val	rs1436290669	missense variant	-	NC_000006.12:g.1390914A>G	gnomAD
FOXF2	Q12947	p.Ala324Ser	rs1207076399	missense variant	-	NC_000006.12:g.1390917G>T	gnomAD
FOXF2	Q12947	p.Ala324Glu	rs753299126	missense variant	-	NC_000006.12:g.1390918C>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala324Pro	rs1207076399	missense variant	-	NC_000006.12:g.1390917G>C	gnomAD
FOXF2	Q12947	p.Ser325Arg	rs766825658	missense variant	-	NC_000006.12:g.1390922C>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ser331Leu	rs1387604207	missense variant	-	NC_000006.12:g.1390939C>T	gnomAD
FOXF2	Q12947	p.Pro332Leu	rs752146693	missense variant	-	NC_000006.12:g.1390942C>T	ExAC,gnomAD
FOXF2	Q12947	p.Thr334Met	rs1266101315	missense variant	-	NC_000006.12:g.1390948C>T	TOPMed
FOXF2	Q12947	p.Ala337Glu	rs1395399878	missense variant	-	NC_000006.12:g.1390957C>A	gnomAD
FOXF2	Q12947	p.Ala337Val	rs1395399878	missense variant	-	NC_000006.12:g.1390957C>T	gnomAD
FOXF2	Q12947	p.Ala338Thr	rs1407799854	missense variant	-	NC_000006.12:g.1390959G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ala338Val	rs1330645178	missense variant	-	NC_000006.12:g.1390960C>T	gnomAD
FOXF2	Q12947	p.Ser342Leu	rs1334673260	missense variant	-	NC_000006.12:g.1390972C>T	gnomAD
FOXF2	Q12947	p.Pro343Leu	rs752913667	missense variant	-	NC_000006.12:g.1390975C>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Gly344Asp	rs1246894016	missense variant	-	NC_000006.12:g.1390978G>A	gnomAD
FOXF2	Q12947	p.Ala345Ser	rs777853676	missense variant	-	NC_000006.12:g.1390980G>T	ExAC,gnomAD
FOXF2	Q12947	p.Ser346Leu	rs1216504833	missense variant	-	NC_000006.12:g.1390984C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Pro347Leu	rs1461182521	missense variant	-	NC_000006.12:g.1390987C>T	gnomAD
FOXF2	Q12947	p.Leu349Ile	rs1245584057	missense variant	-	NC_000006.12:g.1390992C>A	gnomAD
FOXF2	Q12947	p.Gln351Arg	rs778688042	missense variant	-	NC_000006.12:g.1390999A>G	ExAC,gnomAD
FOXF2	Q12947	p.Pro352Ser	rs745854732	missense variant	-	NC_000006.12:g.1391001C>T	ExAC,gnomAD
FOXF2	Q12947	p.Pro352Ala	rs745854732	missense variant	-	NC_000006.12:g.1391001C>G	ExAC,gnomAD
FOXF2	Q12947	p.Ala354Thr	rs1474241073	missense variant	-	NC_000006.12:g.1391007G>A	gnomAD
FOXF2	Q12947	p.Pro357Leu	rs775428059	missense variant	-	NC_000006.12:g.1391017C>T	ExAC,gnomAD
FOXF2	Q12947	p.Pro357Ser	rs771984198	missense variant	-	NC_000006.12:g.1391016C>T	ExAC,gnomAD
FOXF2	Q12947	p.Pro361Thr	rs760343821	missense variant	-	NC_000006.12:g.1391028C>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Pro361Ser	rs760343821	missense variant	-	NC_000006.12:g.1391028C>T	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Pro361Leu	rs1317756945	missense variant	-	NC_000006.12:g.1391029C>T	gnomAD
FOXF2	Q12947	p.Pro361His	rs1317756945	missense variant	-	NC_000006.12:g.1391029C>A	gnomAD
FOXF2	Q12947	p.Ala362Thr	rs776165112	missense variant	-	NC_000006.12:g.1391031G>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ala362Asp	rs1271032233	missense variant	-	NC_000006.12:g.1391032C>A	gnomAD
FOXF2	Q12947	p.Ser364Leu	rs1222127764	missense variant	-	NC_000006.12:g.1391038C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Ala365Thr	rs761196442	missense variant	-	NC_000006.12:g.1391040G>A	ExAC,gnomAD
FOXF2	Q12947	p.Ala365Ser	rs761196442	missense variant	-	NC_000006.12:g.1391040G>T	ExAC,gnomAD
FOXF2	Q12947	p.Ala365Glu	rs1324892741	missense variant	-	NC_000006.12:g.1391041C>A	TOPMed,gnomAD
FOXF2	Q12947	p.Ala365Val	rs1324892741	missense variant	-	NC_000006.12:g.1391041C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Gly366Val	rs764851838	missense variant	-	NC_000006.12:g.1391044G>T	ExAC,gnomAD
FOXF2	Q12947	p.Gly366Ala	rs764851838	missense variant	-	NC_000006.12:g.1391044G>C	ExAC,gnomAD
FOXF2	Q12947	p.Leu367Pro	rs1260464215	missense variant	-	NC_000006.12:g.1391047T>C	TOPMed,gnomAD
FOXF2	Q12947	p.Ser369Cys	rs199606504	missense variant	-	NC_000006.12:g.1391053C>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Met371Lys	rs1209830099	missense variant	-	NC_000006.12:g.1391059T>A	TOPMed
FOXF2	Q12947	p.Tyr374Ser	rs767804919	missense variant	-	NC_000006.12:g.1391068A>C	ExAC,gnomAD
FOXF2	Q12947	p.Ser375Leu	rs753075213	missense variant	-	NC_000006.12:g.1391071C>T	ExAC,gnomAD
FOXF2	Q12947	p.Leu376Gln	rs1261643986	missense variant	-	NC_000006.12:g.1391074T>A	TOPMed
FOXF2	Q12947	p.Gln378Arg	rs754133324	missense variant	-	NC_000006.12:g.1391080A>G	ExAC,gnomAD
FOXF2	Q12947	p.Ser379Thr	rs757266625	missense variant	-	NC_000006.12:g.1391083G>C	ExAC,gnomAD
FOXF2	Q12947	p.His382Tyr	rs1345725822	missense variant	-	NC_000006.12:g.1391091C>T	TOPMed
FOXF2	Q12947	p.His382Pro	rs779111614	missense variant	-	NC_000006.12:g.1391092A>C	ExAC,gnomAD
FOXF2	Q12947	p.Gln383His	rs11759800	missense variant	-	NC_000006.12:g.1391096G>C	TOPMed
FOXF2	Q12947	p.Asn384Ile	rs1402589423	missense variant	-	NC_000006.12:g.1391098A>T	gnomAD
FOXF2	Q12947	p.Ala385Pro	rs745729901	missense variant	-	NC_000006.12:g.1391100G>C	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Arg386Cys	rs1345129732	missense variant	-	NC_000006.12:g.1391103C>T	TOPMed,gnomAD
FOXF2	Q12947	p.Arg386Pro	rs376820659	missense variant	-	NC_000006.12:g.1391104G>C	1000Genomes,ESP,ExAC,gnomAD
FOXF2	Q12947	p.Arg386Gly	rs1345129732	missense variant	-	NC_000006.12:g.1391103C>G	TOPMed,gnomAD
FOXF2	Q12947	p.Glu387Lys	rs150644359	missense variant	-	NC_000006.12:g.1391106G>A	ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Glu387Gly	rs957430052	missense variant	-	NC_000006.12:g.1391107A>G	TOPMed,gnomAD
FOXF2	Q12947	p.Gly392Glu	rs781108073	missense variant	-	NC_000006.12:g.1394699G>A	ExAC,gnomAD
FOXF2	Q12947	p.Leu393Met	rs747690002	missense variant	-	NC_000006.12:g.1394701C>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Pro394Leu	rs770471912	missense variant	-	NC_000006.12:g.1394705C>T	ExAC,gnomAD
FOXF2	Q12947	p.Pro394Thr	rs748830602	missense variant	-	NC_000006.12:g.1394704C>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Arg395Cys	rs774308907	missense variant	-	NC_000006.12:g.1394707C>T	ExAC,gnomAD
FOXF2	Q12947	p.Arg395Gly	rs774308907	missense variant	-	NC_000006.12:g.1394707C>G	ExAC,gnomAD
FOXF2	Q12947	p.Arg395His	rs768831466	missense variant	-	NC_000006.12:g.1394708G>A	ExAC,gnomAD
FOXF2	Q12947	p.Tyr396Ser	rs1325430249	missense variant	-	NC_000006.12:g.1394711A>C	TOPMed
FOXF2	Q12947	p.His398Arg	rs777063525	missense variant	-	NC_000006.12:g.1394717A>G	ExAC,gnomAD
FOXF2	Q12947	p.His399Arg	rs761889267	missense variant	-	NC_000006.12:g.1394720A>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ser400Cys	rs750712370	missense variant	-	NC_000006.12:g.1394723C>G	ExAC,gnomAD
FOXF2	Q12947	p.Thr401Ser	rs763101553	missense variant	-	NC_000006.12:g.1394725A>T	ExAC,gnomAD
FOXF2	Q12947	p.Pro402Ala	rs766623330	missense variant	-	NC_000006.12:g.1394728C>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Val403Ala	rs987131710	missense variant	-	NC_000006.12:g.1394732T>C	TOPMed
FOXF2	Q12947	p.Val403Met	rs932983912	missense variant	-	NC_000006.12:g.1394731G>A	TOPMed
FOXF2	Q12947	p.Asp405Glu	rs754949198	missense variant	-	NC_000006.12:g.1394739C>G	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Asp405Glu	rs754949198	missense variant	-	NC_000006.12:g.1394739C>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Asp408Asn	rs1249426683	missense variant	-	NC_000006.12:g.1394746G>A	gnomAD
FOXF2	Q12947	p.Phe409Ser	rs752561435	missense variant	-	NC_000006.12:g.1394750T>C	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Val410Ile	rs910289542	missense variant	-	NC_000006.12:g.1394752G>A	TOPMed,gnomAD
FOXF2	Q12947	p.Leu411Val	rs1459917173	missense variant	-	NC_000006.12:g.1394755C>G	gnomAD
FOXF2	Q12947	p.Phe413Ser	rs777376635	missense variant	-	NC_000006.12:g.1394762T>C	ExAC,gnomAD
FOXF2	Q12947	p.Asn414Ser	rs547033753	missense variant	-	NC_000006.12:g.1394765A>G	1000Genomes,ExAC,gnomAD
FOXF2	Q12947	p.Ile416Thr	rs1469839544	missense variant	-	NC_000006.12:g.1394771T>C	gnomAD
FOXF2	Q12947	p.Ser417Tyr	rs1191337268	missense variant	-	NC_000006.12:g.1394774C>A	TOPMed
FOXF2	Q12947	p.Ser418Pro	rs1478832606	missense variant	-	NC_000006.12:g.1394776T>C	TOPMed
FOXF2	Q12947	p.His420Tyr	rs770418864	missense variant	-	NC_000006.12:g.1394782C>T	ExAC,gnomAD
FOXF2	Q12947	p.Ser422Ala	rs778395071	missense variant	-	NC_000006.12:g.1394788T>G	ExAC
FOXF2	Q12947	p.SerAlaSer422SerAlaSerTerUnk	rs745752775	stop gained	-	NC_000006.12:g.1394796_1394797insTAGC	ExAC,TOPMed
FOXF2	Q12947	p.Ser424Arg	rs61753348	missense variant	-	NC_000006.12:g.1394796C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Gly425Glu	rs1281365726	missense variant	-	NC_000006.12:g.1394798G>A	TOPMed
FOXF2	Q12947	p.Gly425Arg	rs769225202	missense variant	-	NC_000006.12:g.1394797G>C	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Gly425Arg	rs769225202	missense variant	-	NC_000006.12:g.1394797G>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ser426Leu	rs377282345	missense variant	-	NC_000006.12:g.1394801C>T	ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Ser426Trp	rs377282345	missense variant	-	NC_000006.12:g.1394801C>G	ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.SerTyrTyr426SerTyrTerTyrTyr	rs1201323082	stop gained	-	NC_000006.12:g.1394802_1394807dup	TOPMed
FOXF2	Q12947	p.Tyr427Cys	rs141847147	missense variant	-	NC_000006.12:g.1394804A>G	ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Tyr428Ter	rs2293783	stop gained	-	NC_000006.12:g.1394808T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.His430Pro	rs375909051	missense variant	-	NC_000006.12:g.1394813A>C	ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.His430Arg	rs375909051	missense variant	-	NC_000006.12:g.1394813A>G	ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.His431Pro	rs1379211897	missense variant	-	NC_000006.12:g.1394816A>C	TOPMed,gnomAD
FOXF2	Q12947	p.Gln433Pro	rs370260507	missense variant	-	NC_000006.12:g.1394822A>C	ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Gln433Lys	rs960251606	missense variant	-	NC_000006.12:g.1394821C>A	TOPMed,gnomAD
FOXF2	Q12947	p.Gln433His	rs1319538642	missense variant	-	NC_000006.12:g.1394823G>C	gnomAD
FOXF2	Q12947	p.Gln433Glu	rs960251606	missense variant	-	NC_000006.12:g.1394821C>G	TOPMed,gnomAD
FOXF2	Q12947	p.Val435Leu	rs142547284	missense variant	-	NC_000006.12:g.1394827G>C	ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Val435Ala	rs755919173	missense variant	-	NC_000006.12:g.1394828T>C	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Val435Asp	rs755919173	missense variant	-	NC_000006.12:g.1394828T>A	ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Val435Ile	rs142547284	missense variant	-	NC_000006.12:g.1394827G>A	ESP,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Pro441Ser	rs1023535019	missense variant	-	NC_000006.12:g.1394845C>T	TOPMed
FOXF2	Q12947	p.Val443Ile	rs181428616	missense variant	-	NC_000006.12:g.1394851G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXF2	Q12947	p.Met444Leu	rs745411238	missense variant	-	NC_000006.12:g.1394854A>T	ExAC,TOPMed
FOXF2	Q12947	p.Met444Ile	rs771520920	missense variant	-	NC_000006.12:g.1394856G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro2Gln	rs78766456	missense variant	-	NC_000003.12:g.197297200G>T	TOPMed
DLG1	Q12959	p.Val3Leu	rs1360079948	missense variant	-	NC_000003.12:g.197297198C>G	gnomAD
DLG1	Q12959	p.Arg4Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197297194C>T	NCI-TCGA
DLG1	Q12959	p.Arg4Trp	rs1413258286	missense variant	-	NC_000003.12:g.197297195G>A	gnomAD
DLG1	Q12959	p.Lys5Asn	rs761158636	missense variant	-	NC_000003.12:g.197297190C>G	ExAC,gnomAD
DLG1	Q12959	p.Gln6Glu	COSM1485063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197297189G>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Asp7His	rs1241629571	missense variant	-	NC_000003.12:g.197297186C>G	TOPMed
DLG1	Q12959	p.Thr8Ser	COSM4928022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197296475T>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Thr8Ile	rs1159618844	missense variant	-	NC_000003.12:g.197296474G>A	TOPMed
DLG1	Q12959	p.Gln9Arg	rs1037047320	missense variant	-	NC_000003.12:g.197296471T>C	TOPMed
DLG1	Q12959	p.Arg10Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197296468C>A	NCI-TCGA
DLG1	Q12959	p.His13Gln	rs772746560	missense variant	-	NC_000003.12:g.197296458G>T	ExAC,gnomAD
DLG1	Q12959	p.Leu15Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197296454A>C	NCI-TCGA
DLG1	Q12959	p.Glu16Gly	rs769433622	missense variant	-	NC_000003.12:g.197296450T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg19Leu	rs149422844	missense variant	-	NC_000003.12:g.197296441C>A	ESP,TOPMed,gnomAD
DLG1	Q12959	p.Arg19His	rs149422844	missense variant	-	NC_000003.12:g.197296441C>T	ESP,TOPMed,gnomAD
DLG1	Q12959	p.Ser20Leu	rs761550433	missense variant	-	NC_000003.12:g.197296438G>A	ExAC,gnomAD
DLG1	Q12959	p.Ser20Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197296438G>C	NCI-TCGA
DLG1	Q12959	p.Gln24Arg	rs750624859	missense variant	-	NC_000003.12:g.197296426T>C	ExAC,gnomAD
DLG1	Q12959	p.Gln24Leu	rs750624859	missense variant	-	NC_000003.12:g.197296426T>A	ExAC,gnomAD
DLG1	Q12959	p.Thr25Ala	rs768255606	missense variant	-	NC_000003.12:g.197296424T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu26Ala	rs577307210	missense variant	-	NC_000003.12:g.197296420T>G	1000Genomes,TOPMed
DLG1	Q12959	p.Glu26Ter	rs1369759761	stop gained	-	NC_000003.12:g.197296421C>A	TOPMed
DLG1	Q12959	p.Glu26Lys	COSM4824077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197296421C>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Asp27His	rs780001107	missense variant	-	NC_000003.12:g.197296418C>G	ExAC,gnomAD
DLG1	Q12959	p.Arg28Ser	rs771768390	missense variant	-	NC_000003.12:g.197296413T>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln29His	rs745616960	missense variant	-	NC_000003.12:g.197296410C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser33Phe	rs778558896	missense variant	-	NC_000003.12:g.197296399G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser33Cys	rs778558896	missense variant	-	NC_000003.12:g.197296399G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile34Val	rs757543373	missense variant	-	NC_000003.12:g.197296397T>C	ExAC
DLG1	Q12959	p.Arg36Trp	rs749483264	missense variant	-	NC_000003.12:g.197296391G>A	ExAC,gnomAD
DLG1	Q12959	p.Asn39Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197296381T>C	NCI-TCGA
DLG1	Q12959	p.Ile40Thr	rs1283691085	missense variant	-	NC_000003.12:g.197296378A>G	TOPMed
DLG1	Q12959	p.Phe41Cys	rs1441819158	missense variant	-	NC_000003.12:g.197296375A>C	gnomAD
DLG1	Q12959	p.Ser43Cys	rs188448033	missense variant	-	NC_000003.12:g.197296370T>A	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ser43Arg	rs1457261636	missense variant	-	NC_000003.12:g.197296368G>C	TOPMed,gnomAD
DLG1	Q12959	p.Ser43Arg	rs1457261636	missense variant	-	NC_000003.12:g.197296368G>T	TOPMed,gnomAD
DLG1	Q12959	p.Ser43Asn	rs756139447	missense variant	-	NC_000003.12:g.197296369C>T	ExAC,gnomAD
DLG1	Q12959	p.Asn44Tyr	rs1248338765	missense variant	-	NC_000003.12:g.197296367T>A	gnomAD
DLG1	Q12959	p.Leu45Phe	rs753180157	missense variant	-	NC_000003.12:g.197296364G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu45Val	rs753180157	missense variant	-	NC_000003.12:g.197296364G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln47Glu	rs1468203694	missense variant	-	NC_000003.12:g.197296358G>C	TOPMed
DLG1	Q12959	p.Gln47Ter	COSM1485062	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197296358G>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Asp51Glu	rs1418139795	missense variant	-	NC_000003.12:g.197282844A>T	gnomAD
DLG1	Q12959	p.Ile52Thr	rs1231675229	missense variant	-	NC_000003.12:g.197282842A>G	TOPMed,gnomAD
DLG1	Q12959	p.Glu54Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197282837C>A	NCI-TCGA
DLG1	Q12959	p.Tyr56Cys	rs1174161288	missense variant	-	NC_000003.12:g.197282830T>C	gnomAD
DLG1	Q12959	p.Tyr56Asn	COSM3591929	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197282831A>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Thr59Ile	rs1466482748	missense variant	-	NC_000003.12:g.197282821G>A	gnomAD
DLG1	Q12959	p.Leu61Met	rs1377002963	missense variant	-	NC_000003.12:g.197282816G>T	TOPMed,gnomAD
DLG1	Q12959	p.Leu61Pro	rs1368073847	missense variant	-	NC_000003.12:g.197282815A>G	TOPMed
DLG1	Q12959	p.Asp62Gly	rs1293912265	missense variant	-	NC_000003.12:g.197282812T>C	gnomAD
DLG1	Q12959	p.Asn63Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197282809T>G	NCI-TCGA
DLG1	Q12959	p.Pro64Arg	rs1236133173	missense variant	-	NC_000003.12:g.197282806G>C	TOPMed
DLG1	Q12959	p.Asp68Gly	rs373055195	missense variant	-	NC_000003.12:g.197282794T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp68Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197282795C>A	NCI-TCGA
DLG1	Q12959	p.Arg69Leu	rs775132251	missense variant	-	NC_000003.12:g.197282791C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg69Cys	rs753543349	missense variant	-	NC_000003.12:g.197282792G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg69Pro	rs775132251	missense variant	-	NC_000003.12:g.197282791C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg69His	rs775132251	missense variant	-	NC_000003.12:g.197282791C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser70Leu	rs766907125	missense variant	-	NC_000003.12:g.197282788G>A	ExAC,gnomAD
DLG1	Q12959	p.Lys71Glu	rs368806057	missense variant	-	NC_000003.12:g.197282786T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro72Leu	rs1201452687	missense variant	-	NC_000003.12:g.197282782G>A	TOPMed,gnomAD
DLG1	Q12959	p.Ser73Cys	rs749018763	missense variant	-	NC_000003.12:g.197282779G>C	ExAC,gnomAD
DLG1	Q12959	p.Pro78Leu	rs113378155	missense variant	-	NC_000003.12:g.197282764G>A	ExAC,gnomAD
DLG1	Q12959	p.Val79Met	rs770063351	missense variant	-	NC_000003.12:g.197282762C>T	ExAC,gnomAD
DLG1	Q12959	p.Asn80Ser	rs748318075	missense variant	-	NC_000003.12:g.197282758T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr81Ile	rs1398364706	missense variant	-	NC_000003.12:g.197282755G>A	gnomAD
DLG1	Q12959	p.Glu83Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197282750C>T	NCI-TCGA
DLG1	Q12959	p.Ile84Leu	rs1241678036	missense variant	-	NC_000003.12:g.197282747T>G	TOPMed
DLG1	Q12959	p.Ile84Asn	rs781377410	missense variant	-	NC_000003.12:g.197282746A>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile84Met	COSM1043149	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197282745A>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Leu87Phe	rs199887410	missense variant	-	NC_000003.12:g.197282738G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser89Gly	rs1174224321	missense variant	-	NC_000003.12:g.197282732T>C	gnomAD
DLG1	Q12959	p.Ser89Thr	rs747579335	missense variant	-	NC_000003.12:g.197282731C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser90Ala	rs1423695387	missense variant	-	NC_000003.12:g.197282729A>C	gnomAD
DLG1	Q12959	p.Glu95Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197282714C>G	NCI-TCGA
DLG1	Q12959	p.Thr96Ala	rs1474220632	missense variant	-	NC_000003.12:g.197282711T>C	TOPMed,gnomAD
DLG1	Q12959	p.Thr96Arg	rs1158696537	missense variant	-	NC_000003.12:g.197282710G>C	TOPMed
DLG1	Q12959	p.Pro98Gln	rs150727151	missense variant	-	NC_000003.12:g.197282704G>T	ESP,ExAC,gnomAD
DLG1	Q12959	p.Ser99Gly	rs758845252	missense variant	-	NC_000003.12:g.197282702T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser100Gly	rs750875663	missense variant	-	NC_000003.12:g.197282699T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser100Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197282699T>A	NCI-TCGA
DLG1	Q12959	p.Leu101Ile	COSM3847183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197282696G>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Ser102Arg	rs779415338	missense variant	-	NC_000003.12:g.197282691G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro103Arg	rs755832669	missense variant	-	NC_000003.12:g.197282689G>C	ExAC,gnomAD
DLG1	Q12959	p.Glu106Gln	rs141505047	missense variant	-	NC_000003.12:g.197282681C>G	ESP
DLG1	Q12959	p.Lys107Glu	rs1218460472	missense variant	-	NC_000003.12:g.197194589T>C	gnomAD
DLG1	Q12959	p.Tyr110His	rs765874369	missense variant	-	NC_000003.12:g.197194580A>G	ExAC,gnomAD
DLG1	Q12959	p.Asp112Gly	rs750308804	missense variant	-	NC_000003.12:g.197194573T>C	ExAC,gnomAD
DLG1	Q12959	p.Asp112Asn	COSM4863202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197194574C>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Glu113AspSerTerGlnTerTerIle	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197194569_197194570insATTTATTATTGTTATGAA	NCI-TCGA
DLG1	Q12959	p.Glu113AspPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197194569_197194570insATTTATTATTGTTATGAATTACATATTACTTTTG	NCI-TCGA
DLG1	Q12959	p.Glu113Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197194571C>T	NCI-TCGA
DLG1	Q12959	p.Glu113AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.197194569_197194570insATTTATTATTG	NCI-TCGA
DLG1	Q12959	p.Thr115Ala	rs765108328	missense variant	-	NC_000003.12:g.197194565T>C	ExAC,gnomAD
DLG1	Q12959	p.Thr115Lys	rs1227276096	missense variant	-	NC_000003.12:g.197194564G>T	TOPMed
DLG1	Q12959	p.Pro116Ser	rs761445608	missense variant	-	NC_000003.12:g.197194562G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro116Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197194561G>A	NCI-TCGA
DLG1	Q12959	p.Pro117Ser	rs776924302	missense variant	-	NC_000003.12:g.197194559G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro117Leu	rs1273217820	missense variant	-	NC_000003.12:g.197194558G>A	TOPMed
DLG1	Q12959	p.Glu119Lys	rs367578142	missense variant	-	NC_000003.12:g.197194553C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu119Gly	rs1419972113	missense variant	-	NC_000003.12:g.197194552T>C	gnomAD
DLG1	Q12959	p.His120Arg	rs1157450269	missense variant	-	NC_000003.12:g.197194549T>C	gnomAD
DLG1	Q12959	p.Gln124His	rs1426491971	missense variant	-	NC_000003.12:g.197194536T>A	TOPMed,gnomAD
DLG1	Q12959	p.Gln124Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197194538G>A	NCI-TCGA
DLG1	Q12959	p.Ile125Thr	rs527829647	missense variant	-	NC_000003.12:g.197194534A>G	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn127Lys	rs772257843	missense variant	-	NC_000003.12:g.197194527A>C	ExAC,gnomAD
DLG1	Q12959	p.Val129Met	rs895110045	missense variant	-	NC_000003.12:g.197194523C>T	TOPMed,gnomAD
DLG1	Q12959	p.Ile130Val	rs1488117119	missense variant	-	NC_000003.12:g.197194520T>C	gnomAD
DLG1	Q12959	p.Gly131Ala	rs1241297752	missense variant	-	NC_000003.12:g.197194516C>G	gnomAD
DLG1	Q12959	p.Pro132Thr	rs1038182821	missense variant	-	NC_000003.12:g.197194514G>T	TOPMed,gnomAD
DLG1	Q12959	p.Pro132Leu	rs746399513	missense variant	-	NC_000003.12:g.197194513G>A	ExAC,gnomAD
DLG1	Q12959	p.Glu133Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197194510T>G	NCI-TCGA
DLG1	Q12959	p.Glu133Gln	COSM3408555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197194511C>G	NCI-TCGA Cosmic
DLG1	Q12959	p.Val135Ala	rs1279269818	missense variant	-	NC_000003.12:g.197194504A>G	gnomAD
DLG1	Q12959	p.Val135Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197194505C>T	NCI-TCGA
DLG1	Q12959	p.Ser138Leu	rs774682995	missense variant	-	NC_000003.12:g.197194495G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu139Lys	rs376212918	missense variant	-	NC_000003.12:g.197194493C>T	ESP,ExAC,gnomAD
DLG1	Q12959	p.Lys140Arg	rs1802668	missense variant	-	NC_000003.12:g.197194489T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser143Pro	rs142567887	missense variant	-	NC_000003.12:g.197194481A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu144Lys	rs779558194	missense variant	-	NC_000003.12:g.197194478C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu144Val	rs757859955	missense variant	-	NC_000003.12:g.197194477T>A	ExAC,gnomAD
DLG1	Q12959	p.Glu144Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197194476C>A	NCI-TCGA
DLG1	Q12959	p.Asn147Thr	COSM274792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197194468T>G	NCI-TCGA Cosmic
DLG1	Q12959	p.Val152Ala	rs574735093	missense variant	-	NC_000003.12:g.197194453A>G	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His154Gln	rs1468742252	missense variant	-	NC_000003.12:g.197194446A>C	gnomAD
DLG1	Q12959	p.Ser155Phe	rs1425849751	missense variant	-	NC_000003.12:g.197194444G>A	gnomAD
DLG1	Q12959	p.His156Tyr	rs1171553339	missense variant	-	NC_000003.12:g.197194442G>A	TOPMed,gnomAD
DLG1	Q12959	p.His156Arg	rs765023734	missense variant	-	NC_000003.12:g.197194441T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro159Leu	rs1408781378	missense variant	-	NC_000003.12:g.197194432G>A	TOPMed
DLG1	Q12959	p.Pro159Ser	rs1260212786	missense variant	-	NC_000003.12:g.197194433G>A	gnomAD
DLG1	Q12959	p.Ile160Met	rs757204806	missense variant	-	NC_000003.12:g.197194428T>C	ExAC,gnomAD
DLG1	Q12959	p.Ile160Val	rs1293382424	missense variant	-	NC_000003.12:g.197194430T>C	TOPMed
DLG1	Q12959	p.Pro162Leu	rs201671220	missense variant	-	NC_000003.12:g.197161737G>A	1000Genomes,gnomAD
DLG1	Q12959	p.Thr163Ile	rs200061367	missense variant	-	NC_000003.12:g.197161734G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu164Asp	rs1478596224	missense variant	-	NC_000003.12:g.197161730T>A	gnomAD
DLG1	Q12959	p.Ala165Ser	COSM1043148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197161729C>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Ala165Thr	rs763423341	missense variant	-	NC_000003.12:g.197161729C>T	ExAC,gnomAD
DLG1	Q12959	p.Val166Ile	rs535866775	missense variant	-	NC_000003.12:g.197161726C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu167Phe	rs770144997	missense variant	-	NC_000003.12:g.197161723G>A	ExAC,gnomAD
DLG1	Q12959	p.Ser169Phe	rs762105289	missense variant	-	NC_000003.12:g.197161716G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro170His	rs148027113	missense variant	-	NC_000003.12:g.197161713G>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro170Leu	rs148027113	missense variant	-	NC_000003.12:g.197161713G>A	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro171Ser	rs745500685	missense variant	-	NC_000003.12:g.197161711G>A	ExAC,gnomAD
DLG1	Q12959	p.Val173Ala	COSM4116489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197161704A>G	NCI-TCGA Cosmic
DLG1	Q12959	p.Pro174Leu	rs375133714	missense variant	-	NC_000003.12:g.197161701G>A	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro174Arg	rs375133714	missense variant	-	NC_000003.12:g.197161701G>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro174Ser	rs1261261367	missense variant	-	NC_000003.12:g.197161702G>A	gnomAD
DLG1	Q12959	p.Val175Met	rs770426015	missense variant	-	NC_000003.12:g.197161699C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile176Thr	rs1321490916	missense variant	-	NC_000003.12:g.197161695A>G	TOPMed
DLG1	Q12959	p.Val178Ala	rs749215360	missense variant	-	NC_000003.12:g.197161689A>G	ExAC,gnomAD
DLG1	Q12959	p.Leu179Pro	rs755987767	missense variant	-	NC_000003.12:g.197161686A>G	ExAC,gnomAD
DLG1	Q12959	p.Val181Phe	rs781133340	missense variant	-	NC_000003.12:g.197161681C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val181Leu	rs781133340	missense variant	-	NC_000003.12:g.197161681C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala183Gly	rs1285541064	missense variant	-	NC_000003.12:g.197161674G>C	TOPMed
DLG1	Q12959	p.Glu184Gly	rs987384122	missense variant	-	NC_000003.12:g.197161671T>C	TOPMed
DLG1	Q12959	p.Thr186Ala	rs755197938	missense variant	-	NC_000003.12:g.197161666T>C	ExAC,gnomAD
DLG1	Q12959	p.Thr186Asn	rs751787367	missense variant	-	NC_000003.12:g.197161665G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val187Ile	rs1334106239	missense variant	-	NC_000003.12:g.197161663C>T	gnomAD
DLG1	Q12959	p.Ile192Val	rs377176801	missense variant	-	NC_000003.12:g.197161648T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro193Ser	rs765788178	missense variant	-	NC_000003.12:g.197161645G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro193Ala	rs765788178	missense variant	-	NC_000003.12:g.197161645G>C	ExAC,gnomAD
DLG1	Q12959	p.Pro193Arg	rs1373068965	missense variant	-	NC_000003.12:g.197161644G>C	gnomAD
DLG1	Q12959	p.Gln194Leu	rs762301667	missense variant	-	NC_000003.12:g.197161641T>A	ExAC,gnomAD
DLG1	Q12959	p.Asn196Tyr	rs1232310719	missense variant	-	NC_000003.12:g.197149793T>A	gnomAD
DLG1	Q12959	p.Pro197Leu	rs1220713812	missense variant	-	NC_000003.12:g.197149789G>A	TOPMed
DLG1	Q12959	p.Pro198Ser	rs1179832376	missense variant	-	NC_000003.12:g.197149787G>A	TOPMed,gnomAD
DLG1	Q12959	p.Pro198Leu	rs1481491870	missense variant	-	NC_000003.12:g.197149786G>A	TOPMed
DLG1	Q12959	p.Pro198Thr	rs1179832376	missense variant	-	NC_000003.12:g.197149787G>T	TOPMed,gnomAD
DLG1	Q12959	p.Pro199GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.197149783G>-	NCI-TCGA
DLG1	Q12959	p.Val202Ile	rs1489345588	missense variant	-	NC_000003.12:g.197149775C>T	gnomAD
DLG1	Q12959	p.Asp205Gly	rs750566095	missense variant	-	NC_000003.12:g.197149765T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu207Ter	rs762355011	stop gained	-	NC_000003.12:g.197149759A>T	ExAC,gnomAD
DLG1	Q12959	p.Leu207Ser	rs762355011	missense variant	-	NC_000003.12:g.197149759A>G	ExAC,gnomAD
DLG1	Q12959	p.Glu208Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197149757C>G	NCI-TCGA
DLG1	Q12959	p.Tyr212Ter	rs752247070	stop gained	-	NC_000003.12:g.197149744dup	ExAC
DLG1	Q12959	p.Val213Ile	rs201543784	missense variant	-	NC_000003.12:g.197142768C>T	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Thr216Ile	rs767745159	missense variant	-	NC_000003.12:g.197142758G>A	ExAC,gnomAD
DLG1	Q12959	p.Asp217Gly	rs199703315	missense variant	-	NC_000003.12:g.197142755T>C	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ala218Thr	rs946264612	missense variant	-	NC_000003.12:g.197142753C>T	TOPMed,gnomAD
DLG1	Q12959	p.Asp219Gly	rs764875510	missense variant	-	NC_000003.12:g.197142749T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Tyr220Cys	rs761344305	missense variant	-	NC_000003.12:g.197142746T>C	ExAC,gnomAD
DLG1	Q12959	p.Glu223Gly	rs776264645	missense variant	-	NC_000003.12:g.197142737T>C	ExAC,gnomAD
DLG1	Q12959	p.Glu224Ter	COSM1043147	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197142735C>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Ile225Val	rs562094599	missense variant	-	NC_000003.12:g.197142732T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr226Ile	rs1213491567	missense variant	-	NC_000003.12:g.197142728G>A	gnomAD
DLG1	Q12959	p.Thr226Lys	rs1213491567	missense variant	-	NC_000003.12:g.197142728G>T	gnomAD
DLG1	Q12959	p.Leu227Val	rs746887337	missense variant	-	NC_000003.12:g.197142726G>C	ExAC,gnomAD
DLG1	Q12959	p.Gly230Arg	rs759277835	missense variant	-	NC_000003.12:g.197140264C>T	TOPMed
DLG1	Q12959	p.Phe236Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197140244G>T	NCI-TCGA
DLG1	Q12959	p.Ile238Val	rs1007791071	missense variant	-	NC_000003.12:g.197140240T>C	gnomAD
DLG1	Q12959	p.Gly240Glu	rs1049949665	missense variant	-	NC_000003.12:g.197140233C>T	TOPMed
DLG1	Q12959	p.Gly240Ter	COSM4116487	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197140234C>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Thr242Met	rs888923932	missense variant	-	NC_000003.12:g.197140227G>A	TOPMed,gnomAD
DLG1	Q12959	p.Asp243Tyr	rs753426047	missense variant	-	NC_000003.12:g.197140225C>A	ExAC,gnomAD
DLG1	Q12959	p.Asp243Asn	rs753426047	missense variant	-	NC_000003.12:g.197140225C>T	ExAC,gnomAD
DLG1	Q12959	p.Asn244Thr	COSM1485061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197140221T>G	NCI-TCGA Cosmic
DLG1	Q12959	p.Pro245Leu	rs763501037	missense variant	-	NC_000003.12:g.197140218G>A	ExAC,gnomAD
DLG1	Q12959	p.His246Asn	rs760676689	missense variant	-	NC_000003.12:g.197140216G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile247Phe	rs1298827905	missense variant	-	NC_000003.12:g.197140213T>A	gnomAD
DLG1	Q12959	p.Asp250Glu	rs1461669803	missense variant	-	NC_000003.12:g.197140202G>T	gnomAD
DLG1	Q12959	p.Ile255Val	rs775224987	missense variant	-	NC_000003.12:g.197140189T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys257Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197140181T>G	NCI-TCGA
DLG1	Q12959	p.Ile258Val	rs771932690	missense variant	-	NC_000003.12:g.197140180T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr260Ile	rs1230328994	missense variant	-	NC_000003.12:g.197140173G>A	TOPMed
DLG1	Q12959	p.Thr260Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197140173G>T	NCI-TCGA
DLG1	Q12959	p.Thr260Ala	COSM4677740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197140174T>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Gly261Val	rs759278032	missense variant	-	NC_000003.12:g.197140170C>A	ExAC,gnomAD
DLG1	Q12959	p.Gly262Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197140168C>A	NCI-TCGA
DLG1	Q12959	p.Ala265Thr	rs1279456377	missense variant	-	NC_000003.12:g.197140159C>T	TOPMed
DLG1	Q12959	p.Asp267Gly	rs200110103	missense variant	-	NC_000003.12:g.197140152T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gly268Arg	rs777964838	missense variant	-	NC_000003.12:g.197140150C>T	ExAC,gnomAD
DLG1	Q12959	p.Arg271Trp	rs748689354	missense variant	-	NC_000003.12:g.197140141G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg271Gln	rs781507202	missense variant	-	NC_000003.12:g.197140140C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val272Ala	rs748123958	missense variant	-	NC_000003.12:g.197138389A>G	ExAC,gnomAD
DLG1	Q12959	p.Asn273Ser	rs200751878	missense variant	-	NC_000003.12:g.197138386T>C	ExAC,gnomAD
DLG1	Q12959	p.Cys275Arg	rs200387323	missense variant	-	NC_000003.12:g.197138381A>G	1000Genomes,gnomAD
DLG1	Q12959	p.Cys275Ser	rs200387323	missense variant	-	NC_000003.12:g.197138381A>T	1000Genomes,gnomAD
DLG1	Q12959	p.Arg278Gln	rs1134986	missense variant	-	NC_000003.12:g.197138371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg278Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197138372G>A	NCI-TCGA
DLG1	Q12959	p.Val284Ile	rs375786565	missense variant	-	NC_000003.12:g.197138354C>T	ESP,gnomAD
DLG1	Q12959	p.Val284Leu	rs375786565	missense variant	-	NC_000003.12:g.197138354C>G	ESP,gnomAD
DLG1	Q12959	p.Arg285His	rs545509250	missense variant	-	NC_000003.12:g.197138350C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg285Cys	rs1452989685	missense variant	-	NC_000003.12:g.197138351G>A	gnomAD
DLG1	Q12959	p.Arg285Leu	rs545509250	missense variant	-	NC_000003.12:g.197138350C>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp286Asn	rs1178053626	missense variant	-	NC_000003.12:g.197138348C>T	TOPMed,gnomAD
DLG1	Q12959	p.Asp286Tyr	rs1178053626	missense variant	-	NC_000003.12:g.197138348C>A	TOPMed,gnomAD
DLG1	Q12959	p.Asp286Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197138347T>G	NCI-TCGA
DLG1	Q12959	p.Lys291Glu	rs1197166530	missense variant	-	NC_000003.12:g.197138333T>C	gnomAD
DLG1	Q12959	p.Val293Phe	rs752188815	missense variant	-	NC_000003.12:g.197138327C>A	ExAC,gnomAD
DLG1	Q12959	p.Ala295Val	rs2271822	missense variant	-	NC_000003.12:g.197138320G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala295Thr	rs753983939	missense variant	-	NC_000003.12:g.197138321C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys297Arg	rs762612391	missense variant	-	NC_000003.12:g.197138314T>C	ExAC,gnomAD
DLG1	Q12959	p.Glu298Val	rs765421513	missense variant	-	NC_000003.12:g.197138311T>A	ExAC,gnomAD
DLG1	Q12959	p.Ser301Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197138302G>T	NCI-TCGA
DLG1	Q12959	p.Ile302Val	rs776911663	missense variant	-	NC_000003.12:g.197138300T>C	ExAC,gnomAD
DLG1	Q12959	p.Val303Ile	rs1412517617	missense variant	-	NC_000003.12:g.197138297C>T	TOPMed
DLG1	Q12959	p.Val303Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197138296A>G	NCI-TCGA
DLG1	Q12959	p.Arg304His	rs768801019	missense variant	-	NC_000003.12:g.197138293C>T	ExAC,gnomAD
DLG1	Q12959	p.Arg304Cys	rs201153255	missense variant	-	NC_000003.12:g.197138294G>A	1000Genomes,ESP,TOPMed,gnomAD
DLG1	Q12959	p.Val307Ile	rs566667266	missense variant	-	NC_000003.12:g.197138285C>T	1000Genomes
DLG1	Q12959	p.Lys308Asn	rs914853180	missense variant	-	NC_000003.12:g.197138280T>G	TOPMed,gnomAD
DLG1	Q12959	p.Arg309Thr	rs1398041564	missense variant	-	NC_000003.12:g.197138278C>G	TOPMed
DLG1	Q12959	p.Arg310Lys	rs1445894831	missense variant	-	NC_000003.12:g.197138275C>T	TOPMed
DLG1	Q12959	p.Pro312Leu	rs1170396545	missense variant	-	NC_000003.12:g.197138269G>A	gnomAD
DLG1	Q12959	p.Val313Ala	rs746268013	missense variant	-	NC_000003.12:g.197138266A>G	ExAC,gnomAD
DLG1	Q12959	p.Val313Met	rs772510206	missense variant	-	NC_000003.12:g.197138267C>T	ExAC,gnomAD
DLG1	Q12959	p.Val313Leu	rs772510206	missense variant	-	NC_000003.12:g.197138267C>G	ExAC,gnomAD
DLG1	Q12959	p.Ser314Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197138264A>C	NCI-TCGA
DLG1	Q12959	p.Ile317AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.197138254_197138255insT	NCI-TCGA
DLG1	Q12959	p.Met318Val	rs1245562701	missense variant	-	NC_000003.12:g.197138252T>C	gnomAD
DLG1	Q12959	p.Ile320Val	rs1337187142	missense variant	-	NC_000003.12:g.197138246T>C	TOPMed
DLG1	Q12959	p.Leu322Ile	rs780691676	missense variant	-	NC_000003.12:g.197138240G>T	ExAC,gnomAD
DLG1	Q12959	p.Leu322Pro	rs754416713	missense variant	-	NC_000003.12:g.197138239A>G	ExAC,gnomAD
DLG1	Q12959	p.Leu322Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197138240G>A	NCI-TCGA
DLG1	Q12959	p.Gly325Ser	rs371237523	missense variant	-	NC_000003.12:g.197138231C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gly325Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197138230C>A	NCI-TCGA
DLG1	Q12959	p.Pro326Ser	rs554805815	missense variant	-	NC_000003.12:g.197138228G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser332Asn	rs1319458820	missense variant	-	NC_000003.12:g.197136666C>T	TOPMed
DLG1	Q12959	p.Ser332Gly	COSM4861387	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197136667T>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Gly335Glu	rs1196340610	missense variant	-	NC_000003.12:g.197136657C>T	TOPMed
DLG1	Q12959	p.Gly336Asp	rs1293689559	missense variant	-	NC_000003.12:g.197136654C>T	gnomAD
DLG1	Q12959	p.Val337Ile	rs1246540630	missense variant	-	NC_000003.12:g.197136652C>T	gnomAD
DLG1	Q12959	p.Gln340His	rs779539639	missense variant	-	NC_000003.12:g.197136641C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln340Glu	rs1443802262	missense variant	-	NC_000003.12:g.197136643G>C	TOPMed,gnomAD
DLG1	Q12959	p.Gln340His	rs779539639	missense variant	-	NC_000003.12:g.197136641C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln340Ter	rs1443802262	stop gained	-	NC_000003.12:g.197136643G>A	TOPMed,gnomAD
DLG1	Q12959	p.Asn346Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197136625T>C	NCI-TCGA
DLG1	Q12959	p.Ser347Gly	rs1367779581	missense variant	-	NC_000003.12:g.197136622T>C	gnomAD
DLG1	Q12959	p.Ser347Asn	rs147695740	missense variant	-	NC_000003.12:g.197136621C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile348Val	rs1424577122	missense variant	-	NC_000003.12:g.197136619T>C	gnomAD
DLG1	Q12959	p.Tyr349Asn	rs369164854	missense variant	-	NC_000003.12:g.197136616A>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Tyr349Cys	rs748424022	missense variant	-	NC_000003.12:g.197136615T>C	ExAC,gnomAD
DLG1	Q12959	p.Lys352Gln	rs1478869912	missense variant	-	NC_000003.12:g.197136607T>G	TOPMed
DLG1	Q12959	p.Ile353Val	rs754136465	missense variant	-	NC_000003.12:g.197136604T>C	ExAC,gnomAD
DLG1	Q12959	p.Gly356Val	rs1363326788	missense variant	-	NC_000003.12:g.197136594C>A	gnomAD
DLG1	Q12959	p.Ala358Thr	rs1400660791	missense variant	-	NC_000003.12:g.197136589C>T	gnomAD
DLG1	Q12959	p.His360Gln	rs1168555834	missense variant	-	NC_000003.12:g.197136581A>C	TOPMed
DLG1	Q12959	p.His360Arg	rs764460628	missense variant	-	NC_000003.12:g.197136582T>C	ExAC,gnomAD
DLG1	Q12959	p.Gly363Asp	rs866931281	missense variant	-	NC_000003.12:g.197136573C>T	gnomAD
DLG1	Q12959	p.Ile367Val	rs1354190896	missense variant	-	NC_000003.12:g.197136562T>C	TOPMed
DLG1	Q12959	p.Asp369Tyr	COSM1422082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197136556C>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Lys370Thr	rs1287689935	missense variant	-	NC_000003.12:g.197136552T>G	TOPMed,gnomAD
DLG1	Q12959	p.Ala373Val	rs925129156	missense variant	-	NC_000003.12:g.197136543G>A	TOPMed,gnomAD
DLG1	Q12959	p.Ala373Ser	rs767620325	missense variant	-	NC_000003.12:g.197136544C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn376Asp	rs145398232	missense variant	-	NC_000003.12:g.197130665T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn376LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.197130665_197130666insTGCTTAA	NCI-TCGA
DLG1	Q12959	p.Val377Leu	rs151290819	missense variant	-	NC_000003.12:g.197130662C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val377Ile	rs151290819	missense variant	-	NC_000003.12:g.197130662C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val382Ile	rs1217272197	missense variant	-	NC_000003.12:g.197130647C>T	TOPMed
DLG1	Q12959	p.Glu386Ala	rs749214941	missense variant	-	NC_000003.12:g.197130634T>G	gnomAD
DLG1	Q12959	p.Glu386Lys	rs763415685	missense variant	-	NC_000003.12:g.197130635C>T	ExAC,gnomAD
DLG1	Q12959	p.Ala387Thr	rs1263238877	missense variant	-	NC_000003.12:g.197130632C>T	gnomAD
DLG1	Q12959	p.Ala390Val	rs760326904	missense variant	-	NC_000003.12:g.197130622G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr394Ile	rs1029549769	missense variant	-	NC_000003.12:g.197130610G>A	TOPMed
DLG1	Q12959	p.Ser395Cys	rs571186311	missense variant	-	NC_000003.12:g.197130607G>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser395Pro	rs376762712	missense variant	-	NC_000003.12:g.197130608A>G	ESP,TOPMed,gnomAD
DLG1	Q12959	p.Ser395Tyr	rs571186311	missense variant	-	NC_000003.12:g.197130607G>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp396Tyr	COSM1485060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197130605C>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Phe397Leu	rs936497033	missense variant	-	NC_000003.12:g.197130600A>T	gnomAD
DLG1	Q12959	p.Phe397Leu	rs936497033	missense variant	-	NC_000003.12:g.197130600A>C	gnomAD
DLG1	Q12959	p.Lys401Ile	rs749224526	missense variant	-	NC_000003.12:g.197130589T>A	ExAC,gnomAD
DLG1	Q12959	p.Val402Leu	rs1446080908	missense variant	-	NC_000003.12:g.197130587C>A	gnomAD
DLG1	Q12959	p.Ala403Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197130583G>A	NCI-TCGA
DLG1	Q12959	p.Lys404AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.197130579T>-	NCI-TCGA
DLG1	Q12959	p.Pro405Thr	rs891630940	missense variant	-	NC_000003.12:g.197130578G>T	TOPMed,gnomAD
DLG1	Q12959	p.Thr406Ile	rs1416145145	missense variant	-	NC_000003.12:g.197130574G>A	TOPMed
DLG1	Q12959	p.Thr406Ala	rs777723301	missense variant	-	NC_000003.12:g.197130575T>C	ExAC,gnomAD
DLG1	Q12959	p.Met408Thr	rs748348666	missense variant	-	NC_000003.12:g.197130568A>G	ExAC,gnomAD
DLG1	Q12959	p.Tyr409Phe	rs1446380068	missense variant	-	NC_000003.12:g.197130565T>A	gnomAD
DLG1	Q12959	p.Met410Val	rs781424060	missense variant	-	NC_000003.12:g.197130563T>C	ExAC,gnomAD
DLG1	Q12959	p.Asp412Asn	rs1303784434	missense variant	-	NC_000003.12:g.197130557C>T	gnomAD
DLG1	Q12959	p.Gly413Ser	rs1220046530	missense variant	-	NC_000003.12:g.197130554C>T	gnomAD
DLG1	Q12959	p.Tyr414Ser	rs201830088	missense variant	-	NC_000003.12:g.197130550T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Tyr414Cys	rs201830088	missense variant	-	NC_000003.12:g.197130550T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala415Val	rs1482059233	missense variant	-	NC_000003.12:g.197130547G>A	gnomAD
DLG1	Q12959	p.Asp418Asn	rs1204813889	missense variant	-	NC_000003.12:g.197130539C>T	gnomAD
DLG1	Q12959	p.Asp418Tyr	rs1204813889	missense variant	-	NC_000003.12:g.197130539C>A	gnomAD
DLG1	Q12959	p.Ile419Thr	rs1341836500	missense variant	-	NC_000003.12:g.197130535A>G	gnomAD
DLG1	Q12959	p.Asn421Ser	rs766361825	missense variant	-	NC_000003.12:g.197130529T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser422Pro	rs758922572	missense variant	-	NC_000003.12:g.197130527A>G	ExAC,gnomAD
DLG1	Q12959	p.Ser423Ala	rs1456338992	missense variant	-	NC_000003.12:g.197119528A>C	gnomAD
DLG1	Q12959	p.Ser423Phe	rs556139731	missense variant	-	NC_000003.12:g.197119527G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser423Tyr	rs556139731	missense variant	-	NC_000003.12:g.197119527G>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln425Ter	COSM446274	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197119522G>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Pro426Thr	rs759238456	missense variant	-	NC_000003.12:g.197119519G>T	ExAC,gnomAD
DLG1	Q12959	p.Val427Ile	rs773807571	missense variant	-	NC_000003.12:g.197119516C>T	ExAC,gnomAD
DLG1	Q12959	p.Asp428Val	rs766016229	missense variant	-	NC_000003.12:g.197119512T>A	ExAC,gnomAD
DLG1	Q12959	p.Asp428His	rs1202000734	missense variant	-	NC_000003.12:g.197119513C>G	gnomAD
DLG1	Q12959	p.Asn429Thr	rs1267124914	missense variant	-	NC_000003.12:g.197119509T>G	gnomAD
DLG1	Q12959	p.His430Tyr	rs143253568	missense variant	-	NC_000003.12:g.197119507G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser432Arg	rs201300547	missense variant	-	NC_000003.12:g.197119501T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser432Gly	COSM4116485	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197119501T>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Gln439His	rs776543439	missense variant	-	NC_000003.12:g.197119478C>A	ExAC,gnomAD
DLG1	Q12959	p.Gln439Glu	rs558256686	missense variant	-	NC_000003.12:g.197119480G>C	1000Genomes
DLG1	Q12959	p.Ala442Glu	rs1026224891	missense variant	-	NC_000003.12:g.197119470G>T	TOPMed,gnomAD
DLG1	Q12959	p.Ala442Val	rs1026224891	missense variant	-	NC_000003.12:g.197119470G>A	TOPMed,gnomAD
DLG1	Q12959	p.Tyr447Cys	rs1320612581	missense variant	-	NC_000003.12:g.197119455T>C	gnomAD
DLG1	Q12959	p.Ser448Thr	rs1456285584	missense variant	-	NC_000003.12:g.197119453A>T	gnomAD
DLG1	Q12959	p.Pro449Ser	rs772262678	missense variant	-	NC_000003.12:g.197119450G>A	ExAC,gnomAD
DLG1	Q12959	p.Val450Ile	rs1453482837	missense variant	-	NC_000003.12:g.197119447C>T	TOPMed
DLG1	Q12959	p.Ser451Cys	rs898564562	missense variant	-	NC_000003.12:g.197119443G>C	TOPMed,gnomAD
DLG1	Q12959	p.Val454Ile	rs745989035	missense variant	-	NC_000003.12:g.197119435C>T	ExAC,gnomAD
DLG1	Q12959	p.Gly456Arg	rs778961421	missense variant	-	NC_000003.12:g.197119429C>G	ExAC,gnomAD
DLG1	Q12959	p.Asp457Val	rs1430793106	missense variant	-	NC_000003.12:g.197119425T>A	gnomAD
DLG1	Q12959	p.Asp457Asn	rs1197270598	missense variant	-	NC_000003.12:g.197119426C>T	gnomAD
DLG1	Q12959	p.Asp458Asn	rs911189133	missense variant	-	NC_000003.12:g.197119423C>T	gnomAD
DLG1	Q12959	p.Asp458Tyr	rs911189133	missense variant	-	NC_000003.12:g.197119423C>A	gnomAD
DLG1	Q12959	p.Arg462Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197119411T>C	NCI-TCGA
DLG1	Q12959	p.Arg462Ser	COSM1645864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197116083C>G	NCI-TCGA Cosmic
DLG1	Q12959	p.Pro464Arg	rs772348654	missense variant	-	NC_000003.12:g.197116078G>C	ExAC,gnomAD
DLG1	Q12959	p.Arg465Gly	rs746076966	missense variant	-	NC_000003.12:g.197116076T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg465Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197116075C>A	NCI-TCGA
DLG1	Q12959	p.Val467Leu	rs142394314	missense variant	-	NC_000003.12:g.197116070C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val468Phe	rs770848633	missense variant	-	NC_000003.12:g.197116067C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val468Ile	rs770848633	missense variant	-	NC_000003.12:g.197116067C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val468Leu	rs770848633	missense variant	-	NC_000003.12:g.197116067C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His470Pro	rs749832343	missense variant	-	NC_000003.12:g.197116060T>G	ExAC,gnomAD
DLG1	Q12959	p.Arg471His	rs778091118	missense variant	-	NC_000003.12:g.197116057C>T	ExAC,gnomAD
DLG1	Q12959	p.Thr474Met	rs200331171	missense variant	-	NC_000003.12:g.197116048G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr474Arg	rs200331171	missense variant	-	NC_000003.12:g.197116048G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr474Ala	rs148803946	missense variant	-	NC_000003.12:g.197116049T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr474ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.197116048_197116049insTATCTTCCCTC	NCI-TCGA
DLG1	Q12959	p.Phe478Leu	COSM4390998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197116035G>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Val481Leu	rs764837654	missense variant	-	NC_000003.12:g.197116028C>A	ExAC,gnomAD
DLG1	Q12959	p.Gly482Ter	COSM6164170	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197116025C>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Glu484Lys	rs761182067	missense variant	-	NC_000003.12:g.197116019C>T	ExAC,gnomAD
DLG1	Q12959	p.Ile489Val	rs763982642	missense variant	-	NC_000003.12:g.197116004T>C	ExAC,gnomAD
DLG1	Q12959	p.Phe490Cys	rs1185942783	missense variant	-	NC_000003.12:g.197116000A>C	TOPMed
DLG1	Q12959	p.Ile491Leu	rs1371485177	missense variant	-	NC_000003.12:g.197115998T>G	gnomAD
DLG1	Q12959	p.Ile491Thr	rs1307879103	missense variant	-	NC_000003.12:g.197115997A>G	gnomAD
DLG1	Q12959	p.Ser492Pro	rs760602538	missense variant	-	NC_000003.12:g.197115995A>G	ExAC,gnomAD
DLG1	Q12959	p.Ile494Val	rs775322401	missense variant	-	NC_000003.12:g.197115989T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile494Met	rs1163879679	missense variant	-	NC_000003.12:g.197115987G>C	gnomAD
DLG1	Q12959	p.Gly497Arg	rs1457394848	missense variant	-	NC_000003.12:g.197115980C>T	TOPMed
DLG1	Q12959	p.Gly498Arg	rs1375333660	missense variant	-	NC_000003.12:g.197115977C>T	gnomAD
DLG1	Q12959	p.Gly498Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197115977C>A	NCI-TCGA
DLG1	Q12959	p.Gly498Glu	COSM3591923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197115976C>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Pro499Ser	rs201908156	missense variant	-	NC_000003.12:g.197115974G>A	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ala500Val	rs774514649	missense variant	-	NC_000003.12:g.197115970G>A	ExAC,gnomAD
DLG1	Q12959	p.Glu505Lys	rs1252259293	missense variant	-	NC_000003.12:g.197115956C>T	gnomAD
DLG1	Q12959	p.Glu505Gly	rs749375973	missense variant	-	NC_000003.12:g.197115955T>C	ExAC
DLG1	Q12959	p.Arg507Lys	rs1482015206	missense variant	-	NC_000003.12:g.197115949C>T	gnomAD
DLG1	Q12959	p.Asp510Tyr	rs770267924	missense variant	-	NC_000003.12:g.197115941C>A	ExAC,gnomAD
DLG1	Q12959	p.Arg511His	rs748649814	missense variant	-	NC_000003.12:g.197115937C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg511Ser	COSM1043146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197115938G>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Arg511Cys	rs1210385820	missense variant	-	NC_000003.12:g.197115938G>A	gnomAD
DLG1	Q12959	p.Ile513Met	rs1353102906	missense variant	-	NC_000003.12:g.197115930T>C	gnomAD
DLG1	Q12959	p.Ile513Thr	rs781697856	missense variant	-	NC_000003.12:g.197115931A>G	ExAC,gnomAD
DLG1	Q12959	p.Ser514Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197115928G>A	NCI-TCGA
DLG1	Q12959	p.Ser514Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197115928G>T	NCI-TCGA
DLG1	Q12959	p.Ser517Asn	rs767223219	missense variant	-	NC_000003.12:g.197104998C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser517Gly	rs1388030280	missense variant	-	NC_000003.12:g.197104999T>C	gnomAD
DLG1	Q12959	p.Asp519Asn	rs1055878288	missense variant	-	NC_000003.12:g.197104993C>T	TOPMed
DLG1	Q12959	p.Leu520Phe	rs777154455	missense variant	-	NC_000003.12:g.197104990G>A	ExAC,gnomAD
DLG1	Q12959	p.Ala523Asp	rs1231577930	missense variant	-	NC_000003.12:g.197104980G>T	TOPMed,gnomAD
DLG1	Q12959	p.Ser524Thr	rs1222231682	missense variant	-	NC_000003.12:g.197104977C>G	TOPMed
DLG1	Q12959	p.His525Arg	rs1275889907	missense variant	-	NC_000003.12:g.197104974T>C	TOPMed
DLG1	Q12959	p.Gln527His	rs755582939	missense variant	-	NC_000003.12:g.197104967C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln527Ter	rs1173000501	stop gained	-	NC_000003.12:g.197104969G>A	gnomAD
DLG1	Q12959	p.Ala529Val	rs1175538061	missense variant	-	NC_000003.12:g.197104962G>A	TOPMed
DLG1	Q12959	p.Ala530Pro	rs1249967459	missense variant	-	NC_000003.12:g.197104960C>G	TOPMed
DLG1	Q12959	p.Ala531Ser	rs1354882410	missense variant	-	NC_000003.12:g.197104957C>A	gnomAD
DLG1	Q12959	p.Asn534His	rs1424580938	missense variant	-	NC_000003.12:g.197104948T>G	TOPMed
DLG1	Q12959	p.Gln537Pro	rs937363240	missense variant	-	NC_000003.12:g.197104938T>G	TOPMed
DLG1	Q12959	p.Ala538Val	rs754879193	missense variant	-	NC_000003.12:g.197104935G>A	ExAC,gnomAD
DLG1	Q12959	p.Ala538Thr	rs767490280	missense variant	-	NC_000003.12:g.197104936C>T	ExAC,gnomAD
DLG1	Q12959	p.Thr540Lys	COSM292637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197104929G>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Ile541Val	rs1206363549	missense variant	-	NC_000003.12:g.197104927T>C	gnomAD
DLG1	Q12959	p.Ile541Met	rs766179146	missense variant	-	NC_000003.12:g.197104925A>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val542Asp	rs1423689971	missense variant	-	NC_000003.12:g.197104923A>T	TOPMed
DLG1	Q12959	p.Gln544Lys	rs747276296	missense variant	-	NC_000003.12:g.197104918G>T	TOPMed,gnomAD
DLG1	Q12959	p.Tyr545Cys	rs750589067	missense variant	-	NC_000003.12:g.197104914T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg546Ter	rs765433062	stop gained	-	NC_000003.12:g.197104912G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg546Leu	rs751111390	missense variant	-	NC_000003.12:g.197104911C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg546Gln	rs751111390	missense variant	-	NC_000003.12:g.197104911C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg546Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197104911C>G	NCI-TCGA
DLG1	Q12959	p.Pro547Ser	rs201145407	missense variant	-	NC_000003.12:g.197104909G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro547Leu	COSM3591921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197104908G>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Glu548Gln	rs1397296475	missense variant	-	NC_000003.12:g.197104906C>G	TOPMed
DLG1	Q12959	p.Glu549Ala	rs1156542597	missense variant	-	NC_000003.12:g.197091026T>G	TOPMed
DLG1	Q12959	p.Glu549Gly	rs1156542597	missense variant	-	NC_000003.12:g.197091026T>C	TOPMed
DLG1	Q12959	p.Tyr550Phe	rs750165570	missense variant	-	NC_000003.12:g.197091023T>A	ExAC,gnomAD
DLG1	Q12959	p.Arg552Cys	rs577786990	missense variant	-	NC_000003.12:g.197091018G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg552His	rs141544348	missense variant	-	NC_000003.12:g.197091017C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile557Met	rs374001902	missense variant	-	NC_000003.12:g.197091001T>C	ESP,gnomAD
DLG1	Q12959	p.Arg561Trp	rs754033983	missense variant	-	NC_000003.12:g.197090991G>A	ExAC,gnomAD
DLG1	Q12959	p.Glu562Asp	rs139789027	missense variant	-	NC_000003.12:g.197090986C>G	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Met564Thr	rs776028025	missense variant	-	NC_000003.12:g.197090981A>G	ExAC,gnomAD
DLG1	Q12959	p.Met564Ile	COSM1485057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197090980C>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Asn566Thr	rs1206373253	missense variant	-	NC_000003.12:g.197090975T>G	gnomAD
DLG1	Q12959	p.Ser567Asn	rs772346988	missense variant	-	NC_000003.12:g.197090972C>T	ExAC,gnomAD
DLG1	Q12959	p.Ser567Gly	rs1482995804	missense variant	-	NC_000003.12:g.197090973T>C	TOPMed,gnomAD
DLG1	Q12959	p.Ser568Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197090969C>A	NCI-TCGA
DLG1	Q12959	p.Ser573Pro	rs774665734	missense variant	-	NC_000003.12:g.197090955A>G	ExAC,gnomAD
DLG1	Q12959	p.Gly574Cys	COSM4116483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197090952C>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Ser575Ala	rs1226816219	missense variant	-	NC_000003.12:g.197090949A>C	gnomAD
DLG1	Q12959	p.Ser575Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197090948G>T	NCI-TCGA
DLG1	Q12959	p.Arg577Gln	rs769502806	missense variant	-	NC_000003.12:g.197090942C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg577Pro	rs769502806	missense variant	-	NC_000003.12:g.197090942C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg577Ter	rs1295215276	stop gained	-	NC_000003.12:g.197090943G>A	TOPMed
DLG1	Q12959	p.Ser579Arg	rs747785538	missense variant	-	NC_000003.12:g.197090935G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser579Arg	rs747785538	missense variant	-	NC_000003.12:g.197090935G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln580Arg	rs1276549172	missense variant	-	NC_000003.12:g.197090933T>C	TOPMed
DLG1	Q12959	p.Lys581Arg	rs780689736	missense variant	-	NC_000003.12:g.197090930T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg582Pro	rs746948471	missense variant	-	NC_000003.12:g.197090927C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg582Leu	rs746948471	missense variant	-	NC_000003.12:g.197090927C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg582Gln	rs746948471	missense variant	-	NC_000003.12:g.197090927C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser583Thr	rs974765385	missense variant	-	NC_000003.12:g.197090925A>T	gnomAD
DLG1	Q12959	p.Ser583Pro	rs974765385	missense variant	-	NC_000003.12:g.197090925A>G	gnomAD
DLG1	Q12959	p.Leu584Ile	rs1459388505	missense variant	-	NC_000003.12:g.197090922G>T	gnomAD
DLG1	Q12959	p.Val586Phe	rs534430510	missense variant	-	NC_000003.12:g.197090916C>A	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Arg587Ile	COSM4971575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197090912C>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Ala588Thr	rs1248730462	missense variant	-	NC_000003.12:g.197085755C>T	gnomAD
DLG1	Q12959	p.Leu589Phe	rs774753940	missense variant	-	NC_000003.12:g.197085752G>A	ExAC,gnomAD
DLG1	Q12959	p.Tyr592Asn	rs766668748	missense variant	-	NC_000003.12:g.197085743A>T	ExAC,gnomAD
DLG1	Q12959	p.Thr595Ile	rs761454680	missense variant	-	NC_000003.12:g.197085733G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser598Arg	rs377679247	missense variant	-	NC_000003.12:g.197085723A>T	ESP,ExAC,gnomAD
DLG1	Q12959	p.Gly599Glu	rs1365297716	missense variant	-	NC_000003.12:g.197085721C>T	TOPMed
DLG1	Q12959	p.Pro601Ser	rs1451447881	missense variant	-	NC_000003.12:g.197085716G>A	TOPMed
DLG1	Q12959	p.Leu605Met	rs1320719007	missense variant	-	NC_000003.12:g.197085704G>T	gnomAD
DLG1	Q12959	p.Asn606Lys	rs774861097	missense variant	-	NC_000003.12:g.197085699G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys608Arg	rs772108454	missense variant	-	NC_000003.12:g.197085694T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Phe609Cys	rs142423292	missense variant	-	NC_000003.12:g.197085691A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile612Thr	rs374138843	missense variant	-	NC_000003.12:g.197085682A>G	ESP,ExAC,gnomAD
DLG1	Q12959	p.His614Tyr	rs1172247300	missense variant	-	NC_000003.12:g.197085677G>A	gnomAD
DLG1	Q12959	p.His614Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197085677G>T	NCI-TCGA
DLG1	Q12959	p.Ile616Val	rs1451954843	missense variant	-	NC_000003.12:g.197085671T>C	gnomAD
DLG1	Q12959	p.Ile616Met	COSM4116481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197085669A>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Ala618Gly	rs757079575	missense variant	-	NC_000003.12:g.197085664G>C	ExAC,gnomAD
DLG1	Q12959	p.Ala618Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197085664G>A	NCI-TCGA
DLG1	Q12959	p.Asp620ValPheSerTerUnkUnk	COSM5834651	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197085658T>-	NCI-TCGA Cosmic
DLG1	Q12959	p.Asp621Gly	rs1188066407	missense variant	-	NC_000003.12:g.197085655T>C	gnomAD
DLG1	Q12959	p.Glu622Lys	COSM4898144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197085653C>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Ala626Val	rs1258478182	missense variant	-	NC_000003.12:g.197085640G>A	gnomAD
DLG1	Q12959	p.Arg627Gly	rs1319090431	missense variant	-	NC_000003.12:g.197085638T>C	TOPMed
DLG1	Q12959	p.Gln628Arg	rs1483420316	missense variant	-	NC_000003.12:g.197085634T>C	gnomAD
DLG1	Q12959	p.Val629Phe	rs756257501	missense variant	-	NC_000003.12:g.197085632C>A	ExAC,gnomAD
DLG1	Q12959	p.Thr630Pro	rs1231984587	missense variant	-	NC_000003.12:g.197085629T>G	gnomAD
DLG1	Q12959	p.Pro631Arg	rs1344303376	missense variant	-	NC_000003.12:g.197085625G>C	gnomAD
DLG1	Q12959	p.Asp632His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197085623C>G	NCI-TCGA
DLG1	Q12959	p.Gly633Ser	rs752886711	missense variant	-	NC_000003.12:g.197085620C>T	ExAC,gnomAD
DLG1	Q12959	p.Ser635Arg	rs957670885	missense variant	-	NC_000003.12:g.197085612G>C	gnomAD
DLG1	Q12959	p.Asp636Asn	rs755522594	missense variant	-	NC_000003.12:g.197085611C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp636Gly	rs1047907729	missense variant	-	NC_000003.12:g.197085610T>C	TOPMed
DLG1	Q12959	p.Asp636Tyr	rs755522594	missense variant	-	NC_000003.12:g.197085611C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu637Gly	rs1251193672	missense variant	-	NC_000003.12:g.197085607T>C	TOPMed
DLG1	Q12959	p.Val638Ala	rs1401942383	missense variant	-	NC_000003.12:g.197085604A>G	gnomAD
DLG1	Q12959	p.Val638Ile	rs751993034	missense variant	-	NC_000003.12:g.197085605C>T	ExAC,gnomAD
DLG1	Q12959	p.Gly639Arg	rs369412843	missense variant	-	NC_000003.12:g.197085602C>T	ESP,gnomAD
DLG1	Q12959	p.Gly639Arg	rs369412843	missense variant	-	NC_000003.12:g.197085602C>G	ESP,gnomAD
DLG1	Q12959	p.Ile641Leu	rs763252926	missense variant	-	NC_000003.12:g.197085596T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile641Val	rs763252926	missense variant	-	NC_000003.12:g.197085596T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys644Ile	rs763877437	missense variant	-	NC_000003.12:g.197085586T>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg645Cys	rs1370279637	missense variant	-	NC_000003.12:g.197085584G>A	gnomAD
DLG1	Q12959	p.Arg645Pro	rs1188424272	missense variant	-	NC_000003.12:g.197085583C>G	gnomAD
DLG1	Q12959	p.Arg646Gly	rs760234405	missense variant	-	NC_000003.12:g.197085581T>C	ExAC,gnomAD
DLG1	Q12959	p.Glu648Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197081112T>A	NCI-TCGA
DLG1	Q12959	p.Arg652Gln	rs200616174	missense variant	-	NC_000003.12:g.197081100C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg652Ter	COSM1422078	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.197081101G>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Arg654Gln	rs560145346	missense variant	-	NC_000003.12:g.197081094C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg654Gly	rs767076677	missense variant	-	NC_000003.12:g.197081095G>C	ExAC,gnomAD
DLG1	Q12959	p.Asn661Ser	rs983465160	missense variant	-	NC_000003.12:g.197081073T>C	TOPMed
DLG1	Q12959	p.Asn661Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197081073T>A	NCI-TCGA
DLG1	Q12959	p.Ser662Cys	rs773970168	missense variant	-	NC_000003.12:g.197081070G>C	ExAC,gnomAD
DLG1	Q12959	p.Ser662Tyr	COSM1043144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197081070G>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Thr664Met	rs945330889	missense variant	-	NC_000003.12:g.197081064G>A	TOPMed,gnomAD
DLG1	Q12959	p.Arg665Thr	rs775676371	missense variant	-	NC_000003.12:g.197081061C>G	gnomAD
DLG1	Q12959	p.Asp666Gly	rs952945407	missense variant	-	NC_000003.12:g.197081058T>C	TOPMed,gnomAD
DLG1	Q12959	p.Asp666Glu	rs35430440	missense variant	-	NC_000003.12:g.197081057A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp666Asn	rs1426738053	missense variant	-	NC_000003.12:g.197081059C>T	TOPMed
DLG1	Q12959	p.Glu669Gly	rs200527966	missense variant	-	NC_000003.12:g.197075869T>C	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Pro671Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197075864G>A	NCI-TCGA
DLG1	Q12959	p.Asp672Asn	rs774486492	missense variant	-	NC_000003.12:g.197075861C>T	ExAC,gnomAD
DLG1	Q12959	p.Met674Thr	rs201276458	missense variant	-	NC_000003.12:g.197075854A>G	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gly675Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197075851C>T	NCI-TCGA
DLG1	Q12959	p.Ser676Leu	rs1322528178	missense variant	-	NC_000003.12:g.197075848G>A	TOPMed
DLG1	Q12959	p.Gly678Asp	rs1209314980	missense variant	-	NC_000003.12:g.197075842C>T	TOPMed
DLG1	Q12959	p.Lys680Asn	rs759793588	missense variant	-	NC_000003.12:g.197069259C>G	ExAC,gnomAD
DLG1	Q12959	p.Thr683Ile	rs774306039	missense variant	-	NC_000003.12:g.197069251G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Tyr	rs749786841	missense variant	-	NC_000003.12:g.197069248G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Cys	rs749786841	missense variant	-	NC_000003.12:g.197069248G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Thr	rs770973751	missense variant	-	NC_000003.12:g.197069249A>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Phe	rs749786841	missense variant	-	NC_000003.12:g.197069248G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala686Thr	rs914508596	missense variant	-	NC_000003.12:g.197069243C>T	gnomAD
DLG1	Q12959	p.Asp688Asn	rs773802586	missense variant	-	NC_000003.12:g.197069237C>T	ExAC,gnomAD
DLG1	Q12959	p.Asp688Gly	rs770401999	missense variant	-	NC_000003.12:g.197069236T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser689Thr	rs1204784700	missense variant	-	NC_000003.12:g.197069233C>G	gnomAD
DLG1	Q12959	p.Tyr693Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197069221T>C	NCI-TCGA
DLG1	Q12959	p.Arg694Cys	rs74674649	missense variant	-	NC_000003.12:g.197069219G>A	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gly695Asp	rs766663727	missense variant	-	NC_000003.12:g.197066751C>T	ExAC,gnomAD
DLG1	Q12959	p.Gln696Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197066749G>C	NCI-TCGA
DLG1	Q12959	p.Glu698Asp	rs763262067	missense variant	-	NC_000003.12:g.197066741T>G	ExAC
DLG1	Q12959	p.Tyr699His	rs750587478	missense variant	-	NC_000003.12:g.197066740A>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val700Ile	rs556519100	missense variant	-	NC_000003.12:g.197066737C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser702Pro	rs1162588138	missense variant	-	NC_000003.12:g.197066731A>G	TOPMed,gnomAD
DLG1	Q12959	p.Ser702Phe	rs777149136	missense variant	-	NC_000003.12:g.197066730G>A	ExAC,gnomAD
DLG1	Q12959	p.Tyr703Asn	rs769021454	missense variant	-	NC_000003.12:g.197066728A>T	ExAC,gnomAD
DLG1	Q12959	p.Pro705Ser	rs1213912687	missense variant	-	NC_000003.12:g.197066722G>A	gnomAD
DLG1	Q12959	p.Glu710Val	COSM4863120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197066706T>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Tyr713Cys	rs1346596857	missense variant	-	NC_000003.12:g.197065803T>C	TOPMed
DLG1	Q12959	p.Thr714Ile	rs767805250	missense variant	-	NC_000003.12:g.197065800G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg715Ter	rs1299861705	stop gained	-	NC_000003.12:g.197065798G>A	TOPMed
DLG1	Q12959	p.Arg715Gln	rs537841426	missense variant	-	NC_000003.12:g.197065797C>T	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Val717Ala	rs997668270	missense variant	-	NC_000003.12:g.197065791A>G	TOPMed,gnomAD
DLG1	Q12959	p.Val717Leu	rs148283553	missense variant	-	NC_000003.12:g.197065792C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile719Val	rs747730053	missense variant	-	NC_000003.12:g.197065786T>C	ExAC,gnomAD
DLG1	Q12959	p.Met723Val	rs1317434987	missense variant	-	NC_000003.12:g.197065774T>C	TOPMed,gnomAD
DLG1	Q12959	p.Met723Thr	rs1189203679	missense variant	-	NC_000003.12:g.197065773A>G	TOPMed
DLG1	Q12959	p.Asp725His	COSM1308991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065768C>G	NCI-TCGA Cosmic
DLG1	Q12959	p.Asp725Glu	rs1417747792	missense variant	-	NC_000003.12:g.197065766G>C	gnomAD
DLG1	Q12959	p.Arg726Ser	rs1377150302	missense variant	-	NC_000003.12:g.197065763C>A	gnomAD
DLG1	Q12959	p.Arg726Lys	rs956412267	missense variant	-	NC_000003.12:g.197065764C>T	TOPMed,gnomAD
DLG1	Q12959	p.Asp729His	rs1163188867	missense variant	-	NC_000003.12:g.197065756C>G	gnomAD
DLG1	Q12959	p.Asp729Tyr	COSM3847177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065756C>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Leu731Val	rs1174213132	missense variant	-	NC_000003.12:g.197065750A>C	TOPMed,gnomAD
DLG1	Q12959	p.Leu731Phe	rs776000134	missense variant	-	NC_000003.12:g.197065748C>G	ExAC,gnomAD
DLG1	Q12959	p.Leu731Trp	rs1239607317	missense variant	-	NC_000003.12:g.197065749A>C	gnomAD
DLG1	Q12959	p.Ile732Ser	COSM1422076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065746A>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Ser733Leu	COSM1753127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065743G>A	NCI-TCGA Cosmic
DLG1	Q12959	p.Phe735Leu	rs1180430022	missense variant	-	NC_000003.12:g.197065736A>T	TOPMed
DLG1	Q12959	p.Pro736His	rs768695952	missense variant	-	NC_000003.12:g.197065734G>T	ExAC,gnomAD
DLG1	Q12959	p.Pro736Ala	rs1392733077	missense variant	-	NC_000003.12:g.197065735G>C	gnomAD
DLG1	Q12959	p.Lys738Thr	rs1180060626	missense variant	-	NC_000003.12:g.197065728T>G	gnomAD
DLG1	Q12959	p.Lys738Glu	COSM70454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065729T>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Ser741Thr	rs1191537594	missense variant	-	NC_000003.12:g.197065720A>T	gnomAD
DLG1	Q12959	p.His745Tyr	rs746862777	missense variant	-	NC_000003.12:g.197065708G>A	ExAC,gnomAD
DLG1	Q12959	p.Thr746Lys	COSM1043143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065445G>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Arg751Ter	rs1390220134	stop gained	-	NC_000003.12:g.197065431G>A	-
DLG1	Q12959	p.Tyr753His	rs1293745338	missense variant	-	NC_000003.12:g.197065425A>G	gnomAD
DLG1	Q12959	p.Asp756Asn	COSM5864208	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065416C>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Arg758Gly	rs1200127049	missense variant	-	NC_000003.12:g.197065410T>C	TOPMed,gnomAD
DLG1	Q12959	p.Arg758Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197065409C>G	NCI-TCGA
DLG1	Q12959	p.Asp759Val	rs749406565	missense variant	-	NC_000003.12:g.197065406T>A	ExAC,gnomAD
DLG1	Q12959	p.Asp759Asn	rs556487482	missense variant	-	NC_000003.12:g.197065407C>T	gnomAD
DLG1	Q12959	p.Val763Leu	rs756095854	missense variant	-	NC_000003.12:g.197065395C>G	ExAC,gnomAD
DLG1	Q12959	p.Arg766Gly	rs1353418226	missense variant	-	NC_000003.12:g.197065386T>C	gnomAD
DLG1	Q12959	p.Arg766Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197065385C>A	NCI-TCGA
DLG1	Q12959	p.Glu767Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197065383C>G	NCI-TCGA
DLG1	Q12959	p.Asp772Asn	rs752749827	missense variant	-	NC_000003.12:g.197065368C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp772Glu	COSM6097220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197065366A>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Ile773Val	rs1462741886	missense variant	-	NC_000003.12:g.197065365T>C	gnomAD
DLG1	Q12959	p.Gln774Arg	rs755469316	missense variant	-	NC_000003.12:g.197065361T>C	ExAC,gnomAD
DLG1	Q12959	p.Gln774GlyTerLys	NCI-TCGA novel	stop gained	-	NC_000003.12:g.197065358_197065359insCTTTTCATC	NCI-TCGA
DLG1	Q12959	p.Gln774Glu	rs1164704741	missense variant	-	NC_000003.12:g.197065362G>C	TOPMed,gnomAD
DLG1	Q12959	p.Glu775Gly	NCI-TCGA novel	insertion	-	NC_000003.12:g.197065356_197065357insACC	NCI-TCGA
DLG1	Q12959	p.His776Arg	rs1410733645	missense variant	-	NC_000003.12:g.197065355T>C	gnomAD
DLG1	Q12959	p.Lys777Glu	rs751977122	missense variant	-	NC_000003.12:g.197065353T>C	ExAC,gnomAD
DLG1	Q12959	p.Ile779Leu	rs375924494	missense variant	-	NC_000003.12:g.197065347T>G	ESP,ExAC,gnomAD
DLG1	Q12959	p.Ile779Thr	rs761529133	missense variant	-	NC_000003.12:g.197065346A>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu780Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197065344C>T	NCI-TCGA
DLG1	Q12959	p.Tyr784Cys	rs1215777777	missense variant	-	NC_000003.12:g.197065331T>C	gnomAD
DLG1	Q12959	p.Asn786Ile	rs117248178	missense variant	-	NC_000003.12:g.197065325T>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn786His	rs1469114069	missense variant	-	NC_000003.12:g.197065326T>G	gnomAD
DLG1	Q12959	p.Asn786Ser	rs117248178	missense variant	-	NC_000003.12:g.197065325T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His787Leu	rs760144420	missense variant	-	NC_000003.12:g.197065322T>A	ExAC,gnomAD
DLG1	Q12959	p.Tyr789Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197065316T>C	NCI-TCGA
DLG1	Q12959	p.Gly790Glu	rs371009210	missense variant	-	NC_000003.12:g.197065313C>T	ESP,TOPMed
DLG1	Q12959	p.Ser792Arg	rs772194713	missense variant	-	NC_000003.12:g.197065306A>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val793Leu	rs759493254	missense variant	-	NC_000003.12:g.197065305C>G	ExAC,gnomAD
DLG1	Q12959	p.Val793Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197065305C>T	NCI-TCGA
DLG1	Q12959	p.Gln794His	rs774295386	missense variant	-	NC_000003.12:g.197065300C>A	ExAC,gnomAD
DLG1	Q12959	p.Ser795Phe	rs770595172	missense variant	-	NC_000003.12:g.197065298G>A	ExAC,gnomAD
DLG1	Q12959	p.Val796Ile	rs994269079	missense variant	-	NC_000003.12:g.197065296C>T	TOPMed,gnomAD
DLG1	Q12959	p.Val796Leu	rs994269079	missense variant	-	NC_000003.12:g.197065296C>G	TOPMed,gnomAD
DLG1	Q12959	p.Arg797Gln	rs78190191	missense variant	-	NC_000003.12:g.197065292C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg797Gly	rs749544930	missense variant	-	NC_000003.12:g.197065293G>C	ExAC,gnomAD
DLG1	Q12959	p.Gly803Asp	COSM4116473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197059997C>T	NCI-TCGA Cosmic
DLG1	Q12959	p.His805Tyr	rs1394624305	missense variant	-	NC_000003.12:g.197059992G>A	gnomAD
DLG1	Q12959	p.Leu808Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197059983G>A	NCI-TCGA
DLG1	Q12959	p.Ala814Ser	rs748311393	missense variant	-	NC_000003.12:g.197059965C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile815Met	rs768680905	missense variant	-	NC_000003.12:g.197059960T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg817Thr	COSM1485055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197059955C>G	NCI-TCGA Cosmic
DLG1	Q12959	p.Gln819Arg	rs1487850364	missense variant	-	NC_000003.12:g.197059949T>C	gnomAD
DLG1	Q12959	p.Ile820Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197059946A>C	NCI-TCGA
DLG1	Q12959	p.Leu823Val	rs747535008	missense variant	-	NC_000003.12:g.197059938G>C	ExAC,gnomAD
DLG1	Q12959	p.Pro825Ala	rs746276285	missense variant	-	NC_000003.12:g.197059932G>C	ExAC,gnomAD
DLG1	Q12959	p.Ile826Val	rs779280165	missense variant	-	NC_000003.12:g.197059929T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile826Leu	rs779280165	missense variant	-	NC_000003.12:g.197059929T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile828Val	rs769701427	missense variant	-	NC_000003.12:g.197059923T>C	ExAC,gnomAD
DLG1	Q12959	p.Ile828Leu	rs769701427	missense variant	-	NC_000003.12:g.197059923T>G	ExAC,gnomAD
DLG1	Q12959	p.Ser834Phe	rs752360157	missense variant	-	NC_000003.12:g.197059904G>A	ExAC,gnomAD
DLG1	Q12959	p.Met835Val	rs1338921032	missense variant	-	NC_000003.12:g.197059902T>C	gnomAD
DLG1	Q12959	p.Met835Ile	rs377083623	missense variant	-	NC_000003.12:g.197059900C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn837Ser	rs775565630	missense variant	-	NC_000003.12:g.197059895T>C	gnomAD
DLG1	Q12959	p.Ile838Asn	rs1374901932	missense variant	-	NC_000003.12:g.197059892A>T	TOPMed,gnomAD
DLG1	Q12959	p.Met839Thr	rs754581777	missense variant	-	NC_000003.12:g.197059889A>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Met839Arg	rs754581777	missense variant	-	NC_000003.12:g.197059889A>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu840Gly	COSM4116471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197051666T>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Met841Ile	rs754670124	missense variant	-	NC_000003.12:g.197051662C>T	ExAC,gnomAD
DLG1	Q12959	p.Met841Val	rs1456199282	missense variant	-	NC_000003.12:g.197051664T>C	gnomAD
DLG1	Q12959	p.Met841Ile	COSM1308989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197051662C>G	NCI-TCGA Cosmic
DLG1	Q12959	p.Lys843SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.197051657T>-	NCI-TCGA
DLG1	Q12959	p.Arg844His	rs779555154	missense variant	-	NC_000003.12:g.197051654C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg844Cys	rs751084251	missense variant	-	NC_000003.12:g.197051655G>A	ExAC,gnomAD
DLG1	Q12959	p.Gln849Ter	rs1282868964	stop gained	-	NC_000003.12:g.197051640G>A	gnomAD
DLG1	Q12959	p.Ala850Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197051637C>T	NCI-TCGA
DLG1	Q12959	p.Arg851Lys	COSM420063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197051633C>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Thr853Ala	rs758272031	missense variant	-	NC_000003.12:g.197051628T>C	ExAC,gnomAD
DLG1	Q12959	p.Phe854Tyr	rs1354149750	missense variant	-	NC_000003.12:g.197051624A>T	gnomAD
DLG1	Q12959	p.Glu855Gly	rs1306451100	missense variant	-	NC_000003.12:g.197051621T>C	gnomAD
DLG1	Q12959	p.Glu855Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197051620C>G	NCI-TCGA
DLG1	Q12959	p.Arg856Thr	rs750334615	missense variant	-	NC_000003.12:g.197051618C>G	ExAC,gnomAD
DLG1	Q12959	p.Met858Val	rs368819214	missense variant	-	NC_000003.12:g.197051613T>C	ESP,ExAC,gnomAD
DLG1	Q12959	p.Lys859Thr	rs1311102081	missense variant	-	NC_000003.12:g.197051609T>G	gnomAD
DLG1	Q12959	p.Glu861Asp	rs1326854738	missense variant	-	NC_000003.12:g.197051602T>G	gnomAD
DLG1	Q12959	p.Glu861Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197051604C>T	NCI-TCGA
DLG1	Q12959	p.Glu866Gln	rs1461717180	missense variant	-	NC_000003.12:g.197051589C>G	gnomAD
DLG1	Q12959	p.His867Asp	rs1389756156	missense variant	-	NC_000003.12:g.197051586G>C	gnomAD
DLG1	Q12959	p.Thr869Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197051579G>A	NCI-TCGA
DLG1	Q12959	p.Ile871Val	rs779459646	missense variant	-	NC_000003.12:g.197044727T>C	ExAC,gnomAD
DLG1	Q12959	p.Ile871Asn	COSM1422072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197044726A>T	NCI-TCGA Cosmic
DLG1	Q12959	p.Val872Ala	rs1478761741	missense variant	-	NC_000003.12:g.197044723A>G	gnomAD
DLG1	Q12959	p.Gln873Arg	rs1283231928	missense variant	-	NC_000003.12:g.197044720T>C	TOPMed
DLG1	Q12959	p.Gly874Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197044717C>A	NCI-TCGA
DLG1	Q12959	p.Gly874Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197044717C>T	NCI-TCGA
DLG1	Q12959	p.Asp875His	rs778889719	missense variant	-	NC_000003.12:g.197044715C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp875Asn	rs778889719	missense variant	-	NC_000003.12:g.197044715C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr876Met	rs765371853	missense variant	-	NC_000003.12:g.197044711G>A	TOPMed,gnomAD
DLG1	Q12959	p.Leu877Arg	rs763811548	missense variant	-	NC_000003.12:g.197044708A>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp879Tyr	rs368567166	missense variant	-	NC_000003.12:g.197044703C>A	ExAC,gnomAD
DLG1	Q12959	p.Asp879Asn	rs368567166	missense variant	-	NC_000003.12:g.197044703C>T	ExAC,gnomAD
DLG1	Q12959	p.Asn882Tyr	rs752917348	missense variant	-	NC_000003.12:g.197044694T>A	ExAC,gnomAD
DLG1	Q12959	p.Asn882Ser	COSM3591913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.197044693T>C	NCI-TCGA Cosmic
DLG1	Q12959	p.Gln886Arg	rs1180633741	missense variant	-	NC_000003.12:g.197044681T>C	TOPMed
DLG1	Q12959	p.Gln886His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197044680C>A	NCI-TCGA
DLG1	Q12959	p.Glu889Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.197044673C>T	NCI-TCGA
DLG1	Q12959	p.Gln891Lys	rs1350141676	missense variant	-	NC_000003.12:g.197044667G>T	gnomAD
DLG1	Q12959	p.Gln891Pro	rs776026149	missense variant	-	NC_000003.12:g.197044666T>G	TOPMed,gnomAD
DLG1	Q12959	p.Pro899Leu	rs34492126	missense variant	-	NC_000003.12:g.197044642G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala900Thr	rs770242553	missense variant	-	NC_000003.12:g.197044640C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys901Asn	rs746662289	missense variant	-	NC_000003.12:g.197044635T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys903Asn	rs760593370	missense variant	-	NC_000003.12:g.197044629C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu904Pro	rs1334292456	missense variant	-	NC_000003.12:g.197044627A>G	gnomAD
DLG1	Q12959	p.Pro2Gln	rs78766456	missense variant	-	NC_000003.12:g.197297200G>T	TOPMed
DLG1	Q12959	p.Val3Leu	rs1360079948	missense variant	-	NC_000003.12:g.197297198C>G	gnomAD
DLG1	Q12959	p.Arg4Trp	rs1413258286	missense variant	-	NC_000003.12:g.197297195G>A	gnomAD
DLG1	Q12959	p.Lys5Asn	rs761158636	missense variant	-	NC_000003.12:g.197297190C>G	ExAC,gnomAD
DLG1	Q12959	p.Asp7His	rs1241629571	missense variant	-	NC_000003.12:g.197297186C>G	TOPMed
DLG1	Q12959	p.Thr8Ile	rs1159618844	missense variant	-	NC_000003.12:g.197296474G>A	TOPMed
DLG1	Q12959	p.Gln9Arg	rs1037047320	missense variant	-	NC_000003.12:g.197296471T>C	TOPMed
DLG1	Q12959	p.His13Gln	rs772746560	missense variant	-	NC_000003.12:g.197296458G>T	ExAC,gnomAD
DLG1	Q12959	p.Glu16Gly	rs769433622	missense variant	-	NC_000003.12:g.197296450T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg19His	rs149422844	missense variant	-	NC_000003.12:g.197296441C>T	ESP,TOPMed,gnomAD
DLG1	Q12959	p.Arg19Leu	rs149422844	missense variant	-	NC_000003.12:g.197296441C>A	ESP,TOPMed,gnomAD
DLG1	Q12959	p.Ser20Leu	rs761550433	missense variant	-	NC_000003.12:g.197296438G>A	ExAC,gnomAD
DLG1	Q12959	p.Gln24Arg	rs750624859	missense variant	-	NC_000003.12:g.197296426T>C	ExAC,gnomAD
DLG1	Q12959	p.Gln24Leu	rs750624859	missense variant	-	NC_000003.12:g.197296426T>A	ExAC,gnomAD
DLG1	Q12959	p.Thr25Ala	rs768255606	missense variant	-	NC_000003.12:g.197296424T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu26Ala	rs577307210	missense variant	-	NC_000003.12:g.197296420T>G	1000Genomes,TOPMed
DLG1	Q12959	p.Glu26Ter	rs1369759761	stop gained	-	NC_000003.12:g.197296421C>A	TOPMed
DLG1	Q12959	p.Asp27His	rs780001107	missense variant	-	NC_000003.12:g.197296418C>G	ExAC,gnomAD
DLG1	Q12959	p.Arg28Ser	rs771768390	missense variant	-	NC_000003.12:g.197296413T>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln29His	rs745616960	missense variant	-	NC_000003.12:g.197296410C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser33Cys	rs778558896	missense variant	-	NC_000003.12:g.197296399G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser33Phe	rs778558896	missense variant	-	NC_000003.12:g.197296399G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile34Val	rs757543373	missense variant	-	NC_000003.12:g.197296397T>C	ExAC
DLG1	Q12959	p.Arg36Trp	rs749483264	missense variant	-	NC_000003.12:g.197296391G>A	ExAC,gnomAD
DLG1	Q12959	p.Ile40Thr	rs1283691085	missense variant	-	NC_000003.12:g.197296378A>G	TOPMed
DLG1	Q12959	p.Phe41Cys	rs1441819158	missense variant	-	NC_000003.12:g.197296375A>C	gnomAD
DLG1	Q12959	p.Ser43Cys	rs188448033	missense variant	-	NC_000003.12:g.197296370T>A	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ser43Arg	rs1457261636	missense variant	-	NC_000003.12:g.197296368G>C	TOPMed,gnomAD
DLG1	Q12959	p.Ser43Arg	rs1457261636	missense variant	-	NC_000003.12:g.197296368G>T	TOPMed,gnomAD
DLG1	Q12959	p.Ser43Asn	rs756139447	missense variant	-	NC_000003.12:g.197296369C>T	ExAC,gnomAD
DLG1	Q12959	p.Asn44Tyr	rs1248338765	missense variant	-	NC_000003.12:g.197296367T>A	gnomAD
DLG1	Q12959	p.Leu45Phe	rs753180157	missense variant	-	NC_000003.12:g.197296364G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu45Val	rs753180157	missense variant	-	NC_000003.12:g.197296364G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln47Glu	rs1468203694	missense variant	-	NC_000003.12:g.197296358G>C	TOPMed
DLG1	Q12959	p.Asp51Glu	rs1418139795	missense variant	-	NC_000003.12:g.197282844A>T	gnomAD
DLG1	Q12959	p.Ile52Thr	rs1231675229	missense variant	-	NC_000003.12:g.197282842A>G	TOPMed,gnomAD
DLG1	Q12959	p.Tyr56Cys	rs1174161288	missense variant	-	NC_000003.12:g.197282830T>C	gnomAD
DLG1	Q12959	p.Thr59Ile	rs1466482748	missense variant	-	NC_000003.12:g.197282821G>A	gnomAD
DLG1	Q12959	p.Leu61Met	rs1377002963	missense variant	-	NC_000003.12:g.197282816G>T	TOPMed,gnomAD
DLG1	Q12959	p.Leu61Pro	rs1368073847	missense variant	-	NC_000003.12:g.197282815A>G	TOPMed
DLG1	Q12959	p.Asp62Gly	rs1293912265	missense variant	-	NC_000003.12:g.197282812T>C	gnomAD
DLG1	Q12959	p.Pro64Arg	rs1236133173	missense variant	-	NC_000003.12:g.197282806G>C	TOPMed
DLG1	Q12959	p.Asp68Gly	rs373055195	missense variant	-	NC_000003.12:g.197282794T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg69Leu	rs775132251	missense variant	-	NC_000003.12:g.197282791C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg69Cys	rs753543349	missense variant	-	NC_000003.12:g.197282792G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg69His	rs775132251	missense variant	-	NC_000003.12:g.197282791C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg69Pro	rs775132251	missense variant	-	NC_000003.12:g.197282791C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser70Leu	rs766907125	missense variant	-	NC_000003.12:g.197282788G>A	ExAC,gnomAD
DLG1	Q12959	p.Lys71Glu	rs368806057	missense variant	-	NC_000003.12:g.197282786T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro72Leu	rs1201452687	missense variant	-	NC_000003.12:g.197282782G>A	TOPMed,gnomAD
DLG1	Q12959	p.Ser73Cys	rs749018763	missense variant	-	NC_000003.12:g.197282779G>C	ExAC,gnomAD
DLG1	Q12959	p.Pro78Leu	rs113378155	missense variant	-	NC_000003.12:g.197282764G>A	ExAC,gnomAD
DLG1	Q12959	p.Val79Met	rs770063351	missense variant	-	NC_000003.12:g.197282762C>T	ExAC,gnomAD
DLG1	Q12959	p.Asn80Ser	rs748318075	missense variant	-	NC_000003.12:g.197282758T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr81Ile	rs1398364706	missense variant	-	NC_000003.12:g.197282755G>A	gnomAD
DLG1	Q12959	p.Ile84Asn	rs781377410	missense variant	-	NC_000003.12:g.197282746A>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile84Leu	rs1241678036	missense variant	-	NC_000003.12:g.197282747T>G	TOPMed
DLG1	Q12959	p.Leu87Phe	rs199887410	missense variant	-	NC_000003.12:g.197282738G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser89Thr	rs747579335	missense variant	-	NC_000003.12:g.197282731C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser89Gly	rs1174224321	missense variant	-	NC_000003.12:g.197282732T>C	gnomAD
DLG1	Q12959	p.Ser90Ala	rs1423695387	missense variant	-	NC_000003.12:g.197282729A>C	gnomAD
DLG1	Q12959	p.Thr96Arg	rs1158696537	missense variant	-	NC_000003.12:g.197282710G>C	TOPMed
DLG1	Q12959	p.Thr96Ala	rs1474220632	missense variant	-	NC_000003.12:g.197282711T>C	TOPMed,gnomAD
DLG1	Q12959	p.Pro98Gln	rs150727151	missense variant	-	NC_000003.12:g.197282704G>T	ESP,ExAC,gnomAD
DLG1	Q12959	p.Ser99Gly	rs758845252	missense variant	-	NC_000003.12:g.197282702T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser100Gly	rs750875663	missense variant	-	NC_000003.12:g.197282699T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser102Arg	rs779415338	missense variant	-	NC_000003.12:g.197282691G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro103Arg	rs755832669	missense variant	-	NC_000003.12:g.197282689G>C	ExAC,gnomAD
DLG1	Q12959	p.Glu106Gln	rs141505047	missense variant	-	NC_000003.12:g.197282681C>G	ESP
DLG1	Q12959	p.Lys107Glu	rs1218460472	missense variant	-	NC_000003.12:g.197194589T>C	gnomAD
DLG1	Q12959	p.Tyr110His	rs765874369	missense variant	-	NC_000003.12:g.197194580A>G	ExAC,gnomAD
DLG1	Q12959	p.Asp112Gly	rs750308804	missense variant	-	NC_000003.12:g.197194573T>C	ExAC,gnomAD
DLG1	Q12959	p.Thr115Ala	rs765108328	missense variant	-	NC_000003.12:g.197194565T>C	ExAC,gnomAD
DLG1	Q12959	p.Thr115Lys	rs1227276096	missense variant	-	NC_000003.12:g.197194564G>T	TOPMed
DLG1	Q12959	p.Pro116Ser	rs761445608	missense variant	-	NC_000003.12:g.197194562G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro117Ser	rs776924302	missense variant	-	NC_000003.12:g.197194559G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro117Leu	rs1273217820	missense variant	-	NC_000003.12:g.197194558G>A	TOPMed
DLG1	Q12959	p.Glu119Lys	rs367578142	missense variant	-	NC_000003.12:g.197194553C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu119Gly	rs1419972113	missense variant	-	NC_000003.12:g.197194552T>C	gnomAD
DLG1	Q12959	p.His120Arg	rs1157450269	missense variant	-	NC_000003.12:g.197194549T>C	gnomAD
DLG1	Q12959	p.Gln124His	rs1426491971	missense variant	-	NC_000003.12:g.197194536T>A	TOPMed,gnomAD
DLG1	Q12959	p.Ile125Thr	rs527829647	missense variant	-	NC_000003.12:g.197194534A>G	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn127Lys	rs772257843	missense variant	-	NC_000003.12:g.197194527A>C	ExAC,gnomAD
DLG1	Q12959	p.Val129Met	rs895110045	missense variant	-	NC_000003.12:g.197194523C>T	TOPMed,gnomAD
DLG1	Q12959	p.Ile130Val	rs1488117119	missense variant	-	NC_000003.12:g.197194520T>C	gnomAD
DLG1	Q12959	p.Gly131Ala	rs1241297752	missense variant	-	NC_000003.12:g.197194516C>G	gnomAD
DLG1	Q12959	p.Pro132Thr	rs1038182821	missense variant	-	NC_000003.12:g.197194514G>T	TOPMed,gnomAD
DLG1	Q12959	p.Pro132Leu	rs746399513	missense variant	-	NC_000003.12:g.197194513G>A	ExAC,gnomAD
DLG1	Q12959	p.Val135Ala	rs1279269818	missense variant	-	NC_000003.12:g.197194504A>G	gnomAD
DLG1	Q12959	p.Ser138Leu	rs774682995	missense variant	-	NC_000003.12:g.197194495G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu139Lys	rs376212918	missense variant	-	NC_000003.12:g.197194493C>T	ESP,ExAC,gnomAD
DLG1	Q12959	p.Lys140Arg	rs1802668	missense variant	-	NC_000003.12:g.197194489T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser143Pro	rs142567887	missense variant	-	NC_000003.12:g.197194481A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu144Lys	rs779558194	missense variant	-	NC_000003.12:g.197194478C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu144Val	rs757859955	missense variant	-	NC_000003.12:g.197194477T>A	ExAC,gnomAD
DLG1	Q12959	p.Val152Ala	rs574735093	missense variant	-	NC_000003.12:g.197194453A>G	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His154Gln	rs1468742252	missense variant	-	NC_000003.12:g.197194446A>C	gnomAD
DLG1	Q12959	p.Ser155Phe	rs1425849751	missense variant	-	NC_000003.12:g.197194444G>A	gnomAD
DLG1	Q12959	p.His156Tyr	rs1171553339	missense variant	-	NC_000003.12:g.197194442G>A	TOPMed,gnomAD
DLG1	Q12959	p.His156Arg	rs765023734	missense variant	-	NC_000003.12:g.197194441T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro159Ser	rs1260212786	missense variant	-	NC_000003.12:g.197194433G>A	gnomAD
DLG1	Q12959	p.Pro159Leu	rs1408781378	missense variant	-	NC_000003.12:g.197194432G>A	TOPMed
DLG1	Q12959	p.Ile160Met	rs757204806	missense variant	-	NC_000003.12:g.197194428T>C	ExAC,gnomAD
DLG1	Q12959	p.Ile160Val	rs1293382424	missense variant	-	NC_000003.12:g.197194430T>C	TOPMed
DLG1	Q12959	p.Pro162Leu	rs201671220	missense variant	-	NC_000003.12:g.197161737G>A	1000Genomes,gnomAD
DLG1	Q12959	p.Thr163Ile	rs200061367	missense variant	-	NC_000003.12:g.197161734G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu164Asp	rs1478596224	missense variant	-	NC_000003.12:g.197161730T>A	gnomAD
DLG1	Q12959	p.Ala165Thr	rs763423341	missense variant	-	NC_000003.12:g.197161729C>T	ExAC,gnomAD
DLG1	Q12959	p.Val166Ile	rs535866775	missense variant	-	NC_000003.12:g.197161726C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu167Phe	rs770144997	missense variant	-	NC_000003.12:g.197161723G>A	ExAC,gnomAD
DLG1	Q12959	p.Ser169Phe	rs762105289	missense variant	-	NC_000003.12:g.197161716G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro170His	rs148027113	missense variant	-	NC_000003.12:g.197161713G>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro170Leu	rs148027113	missense variant	-	NC_000003.12:g.197161713G>A	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro171Ser	rs745500685	missense variant	-	NC_000003.12:g.197161711G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro174Ser	rs1261261367	missense variant	-	NC_000003.12:g.197161702G>A	gnomAD
DLG1	Q12959	p.Pro174Arg	rs375133714	missense variant	-	NC_000003.12:g.197161701G>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro174Leu	rs375133714	missense variant	-	NC_000003.12:g.197161701G>A	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val175Met	rs770426015	missense variant	-	NC_000003.12:g.197161699C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile176Thr	rs1321490916	missense variant	-	NC_000003.12:g.197161695A>G	TOPMed
DLG1	Q12959	p.Val178Ala	rs749215360	missense variant	-	NC_000003.12:g.197161689A>G	ExAC,gnomAD
DLG1	Q12959	p.Leu179Pro	rs755987767	missense variant	-	NC_000003.12:g.197161686A>G	ExAC,gnomAD
DLG1	Q12959	p.Val181Phe	rs781133340	missense variant	-	NC_000003.12:g.197161681C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val181Leu	rs781133340	missense variant	-	NC_000003.12:g.197161681C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala183Gly	rs1285541064	missense variant	-	NC_000003.12:g.197161674G>C	TOPMed
DLG1	Q12959	p.Glu184Gly	rs987384122	missense variant	-	NC_000003.12:g.197161671T>C	TOPMed
DLG1	Q12959	p.Thr186Ala	rs755197938	missense variant	-	NC_000003.12:g.197161666T>C	ExAC,gnomAD
DLG1	Q12959	p.Thr186Asn	rs751787367	missense variant	-	NC_000003.12:g.197161665G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val187Ile	rs1334106239	missense variant	-	NC_000003.12:g.197161663C>T	gnomAD
DLG1	Q12959	p.Ile192Val	rs377176801	missense variant	-	NC_000003.12:g.197161648T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro193Ser	rs765788178	missense variant	-	NC_000003.12:g.197161645G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro193Ala	rs765788178	missense variant	-	NC_000003.12:g.197161645G>C	ExAC,gnomAD
DLG1	Q12959	p.Pro193Arg	rs1373068965	missense variant	-	NC_000003.12:g.197161644G>C	gnomAD
DLG1	Q12959	p.Gln194Leu	rs762301667	missense variant	-	NC_000003.12:g.197161641T>A	ExAC,gnomAD
DLG1	Q12959	p.Asn196Tyr	rs1232310719	missense variant	-	NC_000003.12:g.197149793T>A	gnomAD
DLG1	Q12959	p.Pro197Leu	rs1220713812	missense variant	-	NC_000003.12:g.197149789G>A	TOPMed
DLG1	Q12959	p.Pro198Thr	rs1179832376	missense variant	-	NC_000003.12:g.197149787G>T	TOPMed,gnomAD
DLG1	Q12959	p.Pro198Ser	rs1179832376	missense variant	-	NC_000003.12:g.197149787G>A	TOPMed,gnomAD
DLG1	Q12959	p.Pro198Leu	rs1481491870	missense variant	-	NC_000003.12:g.197149786G>A	TOPMed
DLG1	Q12959	p.Val202Ile	rs1489345588	missense variant	-	NC_000003.12:g.197149775C>T	gnomAD
DLG1	Q12959	p.Asp205Gly	rs750566095	missense variant	-	NC_000003.12:g.197149765T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu207Ter	rs762355011	stop gained	-	NC_000003.12:g.197149759A>T	ExAC,gnomAD
DLG1	Q12959	p.Leu207Ser	rs762355011	missense variant	-	NC_000003.12:g.197149759A>G	ExAC,gnomAD
DLG1	Q12959	p.Tyr212Ter	rs752247070	stop gained	-	NC_000003.12:g.197149744dup	ExAC
DLG1	Q12959	p.Val213Ile	rs201543784	missense variant	-	NC_000003.12:g.197142768C>T	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Thr216Ile	rs767745159	missense variant	-	NC_000003.12:g.197142758G>A	ExAC,gnomAD
DLG1	Q12959	p.Asp217Gly	rs199703315	missense variant	-	NC_000003.12:g.197142755T>C	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ala218Thr	rs946264612	missense variant	-	NC_000003.12:g.197142753C>T	TOPMed,gnomAD
DLG1	Q12959	p.Asp219Gly	rs764875510	missense variant	-	NC_000003.12:g.197142749T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Tyr220Cys	rs761344305	missense variant	-	NC_000003.12:g.197142746T>C	ExAC,gnomAD
DLG1	Q12959	p.Glu223Gly	rs776264645	missense variant	-	NC_000003.12:g.197142737T>C	ExAC,gnomAD
DLG1	Q12959	p.Ile225Val	rs562094599	missense variant	-	NC_000003.12:g.197142732T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr226Ile	rs1213491567	missense variant	-	NC_000003.12:g.197142728G>A	gnomAD
DLG1	Q12959	p.Thr226Lys	rs1213491567	missense variant	-	NC_000003.12:g.197142728G>T	gnomAD
DLG1	Q12959	p.Leu227Val	rs746887337	missense variant	-	NC_000003.12:g.197142726G>C	ExAC,gnomAD
DLG1	Q12959	p.Gly230Arg	rs759277835	missense variant	-	NC_000003.12:g.197140264C>T	TOPMed
DLG1	Q12959	p.Ile238Val	rs1007791071	missense variant	-	NC_000003.12:g.197140240T>C	gnomAD
DLG1	Q12959	p.Gly240Glu	rs1049949665	missense variant	-	NC_000003.12:g.197140233C>T	TOPMed
DLG1	Q12959	p.Thr242Met	rs888923932	missense variant	-	NC_000003.12:g.197140227G>A	TOPMed,gnomAD
DLG1	Q12959	p.Asp243Tyr	rs753426047	missense variant	-	NC_000003.12:g.197140225C>A	ExAC,gnomAD
DLG1	Q12959	p.Asp243Asn	rs753426047	missense variant	-	NC_000003.12:g.197140225C>T	ExAC,gnomAD
DLG1	Q12959	p.Pro245Leu	rs763501037	missense variant	-	NC_000003.12:g.197140218G>A	ExAC,gnomAD
DLG1	Q12959	p.His246Asn	rs760676689	missense variant	-	NC_000003.12:g.197140216G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile247Phe	rs1298827905	missense variant	-	NC_000003.12:g.197140213T>A	gnomAD
DLG1	Q12959	p.Asp250Glu	rs1461669803	missense variant	-	NC_000003.12:g.197140202G>T	gnomAD
DLG1	Q12959	p.Ile255Val	rs775224987	missense variant	-	NC_000003.12:g.197140189T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile258Val	rs771932690	missense variant	-	NC_000003.12:g.197140180T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr260Ile	rs1230328994	missense variant	-	NC_000003.12:g.197140173G>A	TOPMed
DLG1	Q12959	p.Gly261Val	rs759278032	missense variant	-	NC_000003.12:g.197140170C>A	ExAC,gnomAD
DLG1	Q12959	p.Ala265Thr	rs1279456377	missense variant	-	NC_000003.12:g.197140159C>T	TOPMed
DLG1	Q12959	p.Asp267Gly	rs200110103	missense variant	-	NC_000003.12:g.197140152T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gly268Arg	rs777964838	missense variant	-	NC_000003.12:g.197140150C>T	ExAC,gnomAD
DLG1	Q12959	p.Arg271Trp	rs748689354	missense variant	-	NC_000003.12:g.197140141G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg271Gln	rs781507202	missense variant	-	NC_000003.12:g.197140140C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val272Ala	rs748123958	missense variant	-	NC_000003.12:g.197138389A>G	ExAC,gnomAD
DLG1	Q12959	p.Asn273Ser	rs200751878	missense variant	-	NC_000003.12:g.197138386T>C	ExAC,gnomAD
DLG1	Q12959	p.Cys275Ser	rs200387323	missense variant	-	NC_000003.12:g.197138381A>T	1000Genomes,gnomAD
DLG1	Q12959	p.Cys275Arg	rs200387323	missense variant	-	NC_000003.12:g.197138381A>G	1000Genomes,gnomAD
DLG1	Q12959	p.Arg278Gln	rs1134986	missense variant	-	NC_000003.12:g.197138371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val284Ile	rs375786565	missense variant	-	NC_000003.12:g.197138354C>T	ESP,gnomAD
DLG1	Q12959	p.Val284Leu	rs375786565	missense variant	-	NC_000003.12:g.197138354C>G	ESP,gnomAD
DLG1	Q12959	p.Arg285His	rs545509250	missense variant	-	NC_000003.12:g.197138350C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg285Cys	rs1452989685	missense variant	-	NC_000003.12:g.197138351G>A	gnomAD
DLG1	Q12959	p.Arg285Leu	rs545509250	missense variant	-	NC_000003.12:g.197138350C>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp286Asn	rs1178053626	missense variant	-	NC_000003.12:g.197138348C>T	TOPMed,gnomAD
DLG1	Q12959	p.Asp286Tyr	rs1178053626	missense variant	-	NC_000003.12:g.197138348C>A	TOPMed,gnomAD
DLG1	Q12959	p.Lys291Glu	rs1197166530	missense variant	-	NC_000003.12:g.197138333T>C	gnomAD
DLG1	Q12959	p.Val293Phe	rs752188815	missense variant	-	NC_000003.12:g.197138327C>A	ExAC,gnomAD
DLG1	Q12959	p.Ala295Thr	rs753983939	missense variant	-	NC_000003.12:g.197138321C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala295Val	rs2271822	missense variant	-	NC_000003.12:g.197138320G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys297Arg	rs762612391	missense variant	-	NC_000003.12:g.197138314T>C	ExAC,gnomAD
DLG1	Q12959	p.Glu298Val	rs765421513	missense variant	-	NC_000003.12:g.197138311T>A	ExAC,gnomAD
DLG1	Q12959	p.Ile302Val	rs776911663	missense variant	-	NC_000003.12:g.197138300T>C	ExAC,gnomAD
DLG1	Q12959	p.Val303Ile	rs1412517617	missense variant	-	NC_000003.12:g.197138297C>T	TOPMed
DLG1	Q12959	p.Arg304His	rs768801019	missense variant	-	NC_000003.12:g.197138293C>T	ExAC,gnomAD
DLG1	Q12959	p.Arg304Cys	rs201153255	missense variant	-	NC_000003.12:g.197138294G>A	1000Genomes,ESP,TOPMed,gnomAD
DLG1	Q12959	p.Val307Ile	rs566667266	missense variant	-	NC_000003.12:g.197138285C>T	1000Genomes
DLG1	Q12959	p.Lys308Asn	rs914853180	missense variant	-	NC_000003.12:g.197138280T>G	TOPMed,gnomAD
DLG1	Q12959	p.Arg309Thr	rs1398041564	missense variant	-	NC_000003.12:g.197138278C>G	TOPMed
DLG1	Q12959	p.Arg310Lys	rs1445894831	missense variant	-	NC_000003.12:g.197138275C>T	TOPMed
DLG1	Q12959	p.Pro312Leu	rs1170396545	missense variant	-	NC_000003.12:g.197138269G>A	gnomAD
DLG1	Q12959	p.Val313Ala	rs746268013	missense variant	-	NC_000003.12:g.197138266A>G	ExAC,gnomAD
DLG1	Q12959	p.Val313Leu	rs772510206	missense variant	-	NC_000003.12:g.197138267C>G	ExAC,gnomAD
DLG1	Q12959	p.Val313Met	rs772510206	missense variant	-	NC_000003.12:g.197138267C>T	ExAC,gnomAD
DLG1	Q12959	p.Met318Val	rs1245562701	missense variant	-	NC_000003.12:g.197138252T>C	gnomAD
DLG1	Q12959	p.Ile320Val	rs1337187142	missense variant	-	NC_000003.12:g.197138246T>C	TOPMed
DLG1	Q12959	p.Leu322Pro	rs754416713	missense variant	-	NC_000003.12:g.197138239A>G	ExAC,gnomAD
DLG1	Q12959	p.Leu322Ile	rs780691676	missense variant	-	NC_000003.12:g.197138240G>T	ExAC,gnomAD
DLG1	Q12959	p.Gly325Ser	rs371237523	missense variant	-	NC_000003.12:g.197138231C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro326Ser	rs554805815	missense variant	-	NC_000003.12:g.197138228G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser332Asn	rs1319458820	missense variant	-	NC_000003.12:g.197136666C>T	TOPMed
DLG1	Q12959	p.Gly335Glu	rs1196340610	missense variant	-	NC_000003.12:g.197136657C>T	TOPMed
DLG1	Q12959	p.Gly336Asp	rs1293689559	missense variant	-	NC_000003.12:g.197136654C>T	gnomAD
DLG1	Q12959	p.Val337Ile	rs1246540630	missense variant	-	NC_000003.12:g.197136652C>T	gnomAD
DLG1	Q12959	p.Gln340His	rs779539639	missense variant	-	NC_000003.12:g.197136641C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln340Glu	rs1443802262	missense variant	-	NC_000003.12:g.197136643G>C	TOPMed,gnomAD
DLG1	Q12959	p.Gln340His	rs779539639	missense variant	-	NC_000003.12:g.197136641C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln340Ter	rs1443802262	stop gained	-	NC_000003.12:g.197136643G>A	TOPMed,gnomAD
DLG1	Q12959	p.Ser347Gly	rs1367779581	missense variant	-	NC_000003.12:g.197136622T>C	gnomAD
DLG1	Q12959	p.Ser347Asn	rs147695740	missense variant	-	NC_000003.12:g.197136621C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile348Val	rs1424577122	missense variant	-	NC_000003.12:g.197136619T>C	gnomAD
DLG1	Q12959	p.Tyr349Asn	rs369164854	missense variant	-	NC_000003.12:g.197136616A>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Tyr349Cys	rs748424022	missense variant	-	NC_000003.12:g.197136615T>C	ExAC,gnomAD
DLG1	Q12959	p.Lys352Gln	rs1478869912	missense variant	-	NC_000003.12:g.197136607T>G	TOPMed
DLG1	Q12959	p.Ile353Val	rs754136465	missense variant	-	NC_000003.12:g.197136604T>C	ExAC,gnomAD
DLG1	Q12959	p.Gly356Val	rs1363326788	missense variant	-	NC_000003.12:g.197136594C>A	gnomAD
DLG1	Q12959	p.Ala358Thr	rs1400660791	missense variant	-	NC_000003.12:g.197136589C>T	gnomAD
DLG1	Q12959	p.His360Gln	rs1168555834	missense variant	-	NC_000003.12:g.197136581A>C	TOPMed
DLG1	Q12959	p.His360Arg	rs764460628	missense variant	-	NC_000003.12:g.197136582T>C	ExAC,gnomAD
DLG1	Q12959	p.Gly363Asp	rs866931281	missense variant	-	NC_000003.12:g.197136573C>T	gnomAD
DLG1	Q12959	p.Ile367Val	rs1354190896	missense variant	-	NC_000003.12:g.197136562T>C	TOPMed
DLG1	Q12959	p.Lys370Thr	rs1287689935	missense variant	-	NC_000003.12:g.197136552T>G	TOPMed,gnomAD
DLG1	Q12959	p.Ala373Val	rs925129156	missense variant	-	NC_000003.12:g.197136543G>A	TOPMed,gnomAD
DLG1	Q12959	p.Ala373Ser	rs767620325	missense variant	-	NC_000003.12:g.197136544C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn376Asp	rs145398232	missense variant	-	NC_000003.12:g.197130665T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val377Leu	rs151290819	missense variant	-	NC_000003.12:g.197130662C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val377Ile	rs151290819	missense variant	-	NC_000003.12:g.197130662C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val382Ile	rs1217272197	missense variant	-	NC_000003.12:g.197130647C>T	TOPMed
DLG1	Q12959	p.Glu386Ala	rs749214941	missense variant	-	NC_000003.12:g.197130634T>G	gnomAD
DLG1	Q12959	p.Glu386Lys	rs763415685	missense variant	-	NC_000003.12:g.197130635C>T	ExAC,gnomAD
DLG1	Q12959	p.Ala387Thr	rs1263238877	missense variant	-	NC_000003.12:g.197130632C>T	gnomAD
DLG1	Q12959	p.Ala390Val	rs760326904	missense variant	-	NC_000003.12:g.197130622G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr394Ile	rs1029549769	missense variant	-	NC_000003.12:g.197130610G>A	TOPMed
DLG1	Q12959	p.Ser395Tyr	rs571186311	missense variant	-	NC_000003.12:g.197130607G>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser395Cys	rs571186311	missense variant	-	NC_000003.12:g.197130607G>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser395Pro	rs376762712	missense variant	-	NC_000003.12:g.197130608A>G	ESP,TOPMed,gnomAD
DLG1	Q12959	p.Phe397Leu	rs936497033	missense variant	-	NC_000003.12:g.197130600A>C	gnomAD
DLG1	Q12959	p.Phe397Leu	rs936497033	missense variant	-	NC_000003.12:g.197130600A>T	gnomAD
DLG1	Q12959	p.Lys401Ile	rs749224526	missense variant	-	NC_000003.12:g.197130589T>A	ExAC,gnomAD
DLG1	Q12959	p.Val402Leu	rs1446080908	missense variant	-	NC_000003.12:g.197130587C>A	gnomAD
DLG1	Q12959	p.Pro405Thr	rs891630940	missense variant	-	NC_000003.12:g.197130578G>T	TOPMed,gnomAD
DLG1	Q12959	p.Thr406Ile	rs1416145145	missense variant	-	NC_000003.12:g.197130574G>A	TOPMed
DLG1	Q12959	p.Thr406Ala	rs777723301	missense variant	-	NC_000003.12:g.197130575T>C	ExAC,gnomAD
DLG1	Q12959	p.Met408Thr	rs748348666	missense variant	-	NC_000003.12:g.197130568A>G	ExAC,gnomAD
DLG1	Q12959	p.Tyr409Phe	rs1446380068	missense variant	-	NC_000003.12:g.197130565T>A	gnomAD
DLG1	Q12959	p.Met410Val	rs781424060	missense variant	-	NC_000003.12:g.197130563T>C	ExAC,gnomAD
DLG1	Q12959	p.Asp412Asn	rs1303784434	missense variant	-	NC_000003.12:g.197130557C>T	gnomAD
DLG1	Q12959	p.Gly413Ser	rs1220046530	missense variant	-	NC_000003.12:g.197130554C>T	gnomAD
DLG1	Q12959	p.Tyr414Ser	rs201830088	missense variant	-	NC_000003.12:g.197130550T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Tyr414Cys	rs201830088	missense variant	-	NC_000003.12:g.197130550T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala415Val	rs1482059233	missense variant	-	NC_000003.12:g.197130547G>A	gnomAD
DLG1	Q12959	p.Asp418Asn	rs1204813889	missense variant	-	NC_000003.12:g.197130539C>T	gnomAD
DLG1	Q12959	p.Asp418Tyr	rs1204813889	missense variant	-	NC_000003.12:g.197130539C>A	gnomAD
DLG1	Q12959	p.Ile419Thr	rs1341836500	missense variant	-	NC_000003.12:g.197130535A>G	gnomAD
DLG1	Q12959	p.Asn421Ser	rs766361825	missense variant	-	NC_000003.12:g.197130529T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser422Pro	rs758922572	missense variant	-	NC_000003.12:g.197130527A>G	ExAC,gnomAD
DLG1	Q12959	p.Ser423Phe	rs556139731	missense variant	-	NC_000003.12:g.197119527G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser423Ala	rs1456338992	missense variant	-	NC_000003.12:g.197119528A>C	gnomAD
DLG1	Q12959	p.Ser423Tyr	rs556139731	missense variant	-	NC_000003.12:g.197119527G>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro426Thr	rs759238456	missense variant	-	NC_000003.12:g.197119519G>T	ExAC,gnomAD
DLG1	Q12959	p.Val427Ile	rs773807571	missense variant	-	NC_000003.12:g.197119516C>T	ExAC,gnomAD
DLG1	Q12959	p.Asp428Val	rs766016229	missense variant	-	NC_000003.12:g.197119512T>A	ExAC,gnomAD
DLG1	Q12959	p.Asp428His	rs1202000734	missense variant	-	NC_000003.12:g.197119513C>G	gnomAD
DLG1	Q12959	p.Asn429Thr	rs1267124914	missense variant	-	NC_000003.12:g.197119509T>G	gnomAD
DLG1	Q12959	p.His430Tyr	rs143253568	missense variant	-	NC_000003.12:g.197119507G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser432Arg	rs201300547	missense variant	-	NC_000003.12:g.197119501T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln439Glu	rs558256686	missense variant	-	NC_000003.12:g.197119480G>C	1000Genomes
DLG1	Q12959	p.Gln439His	rs776543439	missense variant	-	NC_000003.12:g.197119478C>A	ExAC,gnomAD
DLG1	Q12959	p.Ala442Glu	rs1026224891	missense variant	-	NC_000003.12:g.197119470G>T	TOPMed,gnomAD
DLG1	Q12959	p.Ala442Val	rs1026224891	missense variant	-	NC_000003.12:g.197119470G>A	TOPMed,gnomAD
DLG1	Q12959	p.Tyr447Cys	rs1320612581	missense variant	-	NC_000003.12:g.197119455T>C	gnomAD
DLG1	Q12959	p.Ser448Thr	rs1456285584	missense variant	-	NC_000003.12:g.197119453A>T	gnomAD
DLG1	Q12959	p.Pro449Ser	rs772262678	missense variant	-	NC_000003.12:g.197119450G>A	ExAC,gnomAD
DLG1	Q12959	p.Val450Ile	rs1453482837	missense variant	-	NC_000003.12:g.197119447C>T	TOPMed
DLG1	Q12959	p.Ser451Cys	rs898564562	missense variant	-	NC_000003.12:g.197119443G>C	TOPMed,gnomAD
DLG1	Q12959	p.Val454Ile	rs745989035	missense variant	-	NC_000003.12:g.197119435C>T	ExAC,gnomAD
DLG1	Q12959	p.Gly456Arg	rs778961421	missense variant	-	NC_000003.12:g.197119429C>G	ExAC,gnomAD
DLG1	Q12959	p.Asp457Val	rs1430793106	missense variant	-	NC_000003.12:g.197119425T>A	gnomAD
DLG1	Q12959	p.Asp457Asn	rs1197270598	missense variant	-	NC_000003.12:g.197119426C>T	gnomAD
DLG1	Q12959	p.Asp458Tyr	rs911189133	missense variant	-	NC_000003.12:g.197119423C>A	gnomAD
DLG1	Q12959	p.Asp458Asn	rs911189133	missense variant	-	NC_000003.12:g.197119423C>T	gnomAD
DLG1	Q12959	p.Pro464Arg	rs772348654	missense variant	-	NC_000003.12:g.197116078G>C	ExAC,gnomAD
DLG1	Q12959	p.Arg465Gly	rs746076966	missense variant	-	NC_000003.12:g.197116076T>C	ExAC,gnomAD
DLG1	Q12959	p.Val467Leu	rs142394314	missense variant	-	NC_000003.12:g.197116070C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val468Phe	rs770848633	missense variant	-	NC_000003.12:g.197116067C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val468Ile	rs770848633	missense variant	-	NC_000003.12:g.197116067C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val468Leu	rs770848633	missense variant	-	NC_000003.12:g.197116067C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His470Pro	rs749832343	missense variant	-	NC_000003.12:g.197116060T>G	ExAC,gnomAD
DLG1	Q12959	p.Arg471His	rs778091118	missense variant	-	NC_000003.12:g.197116057C>T	ExAC,gnomAD
DLG1	Q12959	p.Thr474Met	rs200331171	missense variant	-	NC_000003.12:g.197116048G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr474Arg	rs200331171	missense variant	-	NC_000003.12:g.197116048G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr474Ala	rs148803946	missense variant	-	NC_000003.12:g.197116049T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val481Leu	rs764837654	missense variant	-	NC_000003.12:g.197116028C>A	ExAC,gnomAD
DLG1	Q12959	p.Glu484Lys	rs761182067	missense variant	-	NC_000003.12:g.197116019C>T	ExAC,gnomAD
DLG1	Q12959	p.Ile489Val	rs763982642	missense variant	-	NC_000003.12:g.197116004T>C	ExAC,gnomAD
DLG1	Q12959	p.Phe490Cys	rs1185942783	missense variant	-	NC_000003.12:g.197116000A>C	TOPMed
DLG1	Q12959	p.Ile491Leu	rs1371485177	missense variant	-	NC_000003.12:g.197115998T>G	gnomAD
DLG1	Q12959	p.Ile491Thr	rs1307879103	missense variant	-	NC_000003.12:g.197115997A>G	gnomAD
DLG1	Q12959	p.Ser492Pro	rs760602538	missense variant	-	NC_000003.12:g.197115995A>G	ExAC,gnomAD
DLG1	Q12959	p.Ile494Met	rs1163879679	missense variant	-	NC_000003.12:g.197115987G>C	gnomAD
DLG1	Q12959	p.Ile494Val	rs775322401	missense variant	-	NC_000003.12:g.197115989T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gly497Arg	rs1457394848	missense variant	-	NC_000003.12:g.197115980C>T	TOPMed
DLG1	Q12959	p.Gly498Arg	rs1375333660	missense variant	-	NC_000003.12:g.197115977C>T	gnomAD
DLG1	Q12959	p.Pro499Ser	rs201908156	missense variant	-	NC_000003.12:g.197115974G>A	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ala500Val	rs774514649	missense variant	-	NC_000003.12:g.197115970G>A	ExAC,gnomAD
DLG1	Q12959	p.Glu505Lys	rs1252259293	missense variant	-	NC_000003.12:g.197115956C>T	gnomAD
DLG1	Q12959	p.Glu505Gly	rs749375973	missense variant	-	NC_000003.12:g.197115955T>C	ExAC
DLG1	Q12959	p.Arg507Lys	rs1482015206	missense variant	-	NC_000003.12:g.197115949C>T	gnomAD
DLG1	Q12959	p.Asp510Tyr	rs770267924	missense variant	-	NC_000003.12:g.197115941C>A	ExAC,gnomAD
DLG1	Q12959	p.Arg511Cys	rs1210385820	missense variant	-	NC_000003.12:g.197115938G>A	gnomAD
DLG1	Q12959	p.Arg511His	rs748649814	missense variant	-	NC_000003.12:g.197115937C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile513Thr	rs781697856	missense variant	-	NC_000003.12:g.197115931A>G	ExAC,gnomAD
DLG1	Q12959	p.Ile513Met	rs1353102906	missense variant	-	NC_000003.12:g.197115930T>C	gnomAD
DLG1	Q12959	p.Ser517Asn	rs767223219	missense variant	-	NC_000003.12:g.197104998C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser517Gly	rs1388030280	missense variant	-	NC_000003.12:g.197104999T>C	gnomAD
DLG1	Q12959	p.Asp519Asn	rs1055878288	missense variant	-	NC_000003.12:g.197104993C>T	TOPMed
DLG1	Q12959	p.Leu520Phe	rs777154455	missense variant	-	NC_000003.12:g.197104990G>A	ExAC,gnomAD
DLG1	Q12959	p.Ala523Asp	rs1231577930	missense variant	-	NC_000003.12:g.197104980G>T	TOPMed,gnomAD
DLG1	Q12959	p.Ser524Thr	rs1222231682	missense variant	-	NC_000003.12:g.197104977C>G	TOPMed
DLG1	Q12959	p.His525Arg	rs1275889907	missense variant	-	NC_000003.12:g.197104974T>C	TOPMed
DLG1	Q12959	p.Gln527Ter	rs1173000501	stop gained	-	NC_000003.12:g.197104969G>A	gnomAD
DLG1	Q12959	p.Gln527His	rs755582939	missense variant	-	NC_000003.12:g.197104967C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala529Val	rs1175538061	missense variant	-	NC_000003.12:g.197104962G>A	TOPMed
DLG1	Q12959	p.Ala530Pro	rs1249967459	missense variant	-	NC_000003.12:g.197104960C>G	TOPMed
DLG1	Q12959	p.Ala531Ser	rs1354882410	missense variant	-	NC_000003.12:g.197104957C>A	gnomAD
DLG1	Q12959	p.Asn534His	rs1424580938	missense variant	-	NC_000003.12:g.197104948T>G	TOPMed
DLG1	Q12959	p.Gln537Pro	rs937363240	missense variant	-	NC_000003.12:g.197104938T>G	TOPMed
DLG1	Q12959	p.Ala538Val	rs754879193	missense variant	-	NC_000003.12:g.197104935G>A	ExAC,gnomAD
DLG1	Q12959	p.Ala538Thr	rs767490280	missense variant	-	NC_000003.12:g.197104936C>T	ExAC,gnomAD
DLG1	Q12959	p.Ile541Met	rs766179146	missense variant	-	NC_000003.12:g.197104925A>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile541Val	rs1206363549	missense variant	-	NC_000003.12:g.197104927T>C	gnomAD
DLG1	Q12959	p.Val542Asp	rs1423689971	missense variant	-	NC_000003.12:g.197104923A>T	TOPMed
DLG1	Q12959	p.Gln544Lys	rs747276296	missense variant	-	NC_000003.12:g.197104918G>T	TOPMed,gnomAD
DLG1	Q12959	p.Tyr545Cys	rs750589067	missense variant	-	NC_000003.12:g.197104914T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg546Ter	rs765433062	stop gained	-	NC_000003.12:g.197104912G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg546Leu	rs751111390	missense variant	-	NC_000003.12:g.197104911C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg546Gln	rs751111390	missense variant	-	NC_000003.12:g.197104911C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro547Ser	rs201145407	missense variant	-	NC_000003.12:g.197104909G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu548Gln	rs1397296475	missense variant	-	NC_000003.12:g.197104906C>G	TOPMed
DLG1	Q12959	p.Glu549Gly	rs1156542597	missense variant	-	NC_000003.12:g.197091026T>C	TOPMed
DLG1	Q12959	p.Glu549Ala	rs1156542597	missense variant	-	NC_000003.12:g.197091026T>G	TOPMed
DLG1	Q12959	p.Tyr550Phe	rs750165570	missense variant	-	NC_000003.12:g.197091023T>A	ExAC,gnomAD
DLG1	Q12959	p.Arg552Cys	rs577786990	missense variant	-	NC_000003.12:g.197091018G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg552His	rs141544348	missense variant	-	NC_000003.12:g.197091017C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile557Met	rs374001902	missense variant	-	NC_000003.12:g.197091001T>C	ESP,gnomAD
DLG1	Q12959	p.Arg561Trp	rs754033983	missense variant	-	NC_000003.12:g.197090991G>A	ExAC,gnomAD
DLG1	Q12959	p.Glu562Asp	rs139789027	missense variant	-	NC_000003.12:g.197090986C>G	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Met564Thr	rs776028025	missense variant	-	NC_000003.12:g.197090981A>G	ExAC,gnomAD
DLG1	Q12959	p.Asn566Thr	rs1206373253	missense variant	-	NC_000003.12:g.197090975T>G	gnomAD
DLG1	Q12959	p.Ser567Asn	rs772346988	missense variant	-	NC_000003.12:g.197090972C>T	ExAC,gnomAD
DLG1	Q12959	p.Ser567Gly	rs1482995804	missense variant	-	NC_000003.12:g.197090973T>C	TOPMed,gnomAD
DLG1	Q12959	p.Ser573Pro	rs774665734	missense variant	-	NC_000003.12:g.197090955A>G	ExAC,gnomAD
DLG1	Q12959	p.Ser575Ala	rs1226816219	missense variant	-	NC_000003.12:g.197090949A>C	gnomAD
DLG1	Q12959	p.Arg577Gln	rs769502806	missense variant	-	NC_000003.12:g.197090942C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg577Pro	rs769502806	missense variant	-	NC_000003.12:g.197090942C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg577Ter	rs1295215276	stop gained	-	NC_000003.12:g.197090943G>A	TOPMed
DLG1	Q12959	p.Ser579Arg	rs747785538	missense variant	-	NC_000003.12:g.197090935G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser579Arg	rs747785538	missense variant	-	NC_000003.12:g.197090935G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln580Arg	rs1276549172	missense variant	-	NC_000003.12:g.197090933T>C	TOPMed
DLG1	Q12959	p.Lys581Arg	rs780689736	missense variant	-	NC_000003.12:g.197090930T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg582Gln	rs746948471	missense variant	-	NC_000003.12:g.197090927C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg582Pro	rs746948471	missense variant	-	NC_000003.12:g.197090927C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg582Leu	rs746948471	missense variant	-	NC_000003.12:g.197090927C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser583Thr	rs974765385	missense variant	-	NC_000003.12:g.197090925A>T	gnomAD
DLG1	Q12959	p.Ser583Pro	rs974765385	missense variant	-	NC_000003.12:g.197090925A>G	gnomAD
DLG1	Q12959	p.Leu584Ile	rs1459388505	missense variant	-	NC_000003.12:g.197090922G>T	gnomAD
DLG1	Q12959	p.Val586Phe	rs534430510	missense variant	-	NC_000003.12:g.197090916C>A	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ala588Thr	rs1248730462	missense variant	-	NC_000003.12:g.197085755C>T	gnomAD
DLG1	Q12959	p.Leu589Phe	rs774753940	missense variant	-	NC_000003.12:g.197085752G>A	ExAC,gnomAD
DLG1	Q12959	p.Tyr592Asn	rs766668748	missense variant	-	NC_000003.12:g.197085743A>T	ExAC,gnomAD
DLG1	Q12959	p.Thr595Ile	rs761454680	missense variant	-	NC_000003.12:g.197085733G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser598Arg	rs377679247	missense variant	-	NC_000003.12:g.197085723A>T	ESP,ExAC,gnomAD
DLG1	Q12959	p.Gly599Glu	rs1365297716	missense variant	-	NC_000003.12:g.197085721C>T	TOPMed
DLG1	Q12959	p.Pro601Ser	rs1451447881	missense variant	-	NC_000003.12:g.197085716G>A	TOPMed
DLG1	Q12959	p.Leu605Met	rs1320719007	missense variant	-	NC_000003.12:g.197085704G>T	gnomAD
DLG1	Q12959	p.Asn606Lys	rs774861097	missense variant	-	NC_000003.12:g.197085699G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys608Arg	rs772108454	missense variant	-	NC_000003.12:g.197085694T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Phe609Cys	rs142423292	missense variant	-	NC_000003.12:g.197085691A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile612Thr	rs374138843	missense variant	-	NC_000003.12:g.197085682A>G	ESP,ExAC,gnomAD
DLG1	Q12959	p.His614Tyr	rs1172247300	missense variant	-	NC_000003.12:g.197085677G>A	gnomAD
DLG1	Q12959	p.Ile616Val	rs1451954843	missense variant	-	NC_000003.12:g.197085671T>C	gnomAD
DLG1	Q12959	p.Ala618Gly	rs757079575	missense variant	-	NC_000003.12:g.197085664G>C	ExAC,gnomAD
DLG1	Q12959	p.Asp621Gly	rs1188066407	missense variant	-	NC_000003.12:g.197085655T>C	gnomAD
DLG1	Q12959	p.Ala626Val	rs1258478182	missense variant	-	NC_000003.12:g.197085640G>A	gnomAD
DLG1	Q12959	p.Arg627Gly	rs1319090431	missense variant	-	NC_000003.12:g.197085638T>C	TOPMed
DLG1	Q12959	p.Gln628Arg	rs1483420316	missense variant	-	NC_000003.12:g.197085634T>C	gnomAD
DLG1	Q12959	p.Val629Phe	rs756257501	missense variant	-	NC_000003.12:g.197085632C>A	ExAC,gnomAD
DLG1	Q12959	p.Thr630Pro	rs1231984587	missense variant	-	NC_000003.12:g.197085629T>G	gnomAD
DLG1	Q12959	p.Pro631Arg	rs1344303376	missense variant	-	NC_000003.12:g.197085625G>C	gnomAD
DLG1	Q12959	p.Gly633Ser	rs752886711	missense variant	-	NC_000003.12:g.197085620C>T	ExAC,gnomAD
DLG1	Q12959	p.Ser635Arg	rs957670885	missense variant	-	NC_000003.12:g.197085612G>C	gnomAD
DLG1	Q12959	p.Asp636Asn	rs755522594	missense variant	-	NC_000003.12:g.197085611C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp636Gly	rs1047907729	missense variant	-	NC_000003.12:g.197085610T>C	TOPMed
DLG1	Q12959	p.Asp636Tyr	rs755522594	missense variant	-	NC_000003.12:g.197085611C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu637Gly	rs1251193672	missense variant	-	NC_000003.12:g.197085607T>C	TOPMed
DLG1	Q12959	p.Val638Ala	rs1401942383	missense variant	-	NC_000003.12:g.197085604A>G	gnomAD
DLG1	Q12959	p.Val638Ile	rs751993034	missense variant	-	NC_000003.12:g.197085605C>T	ExAC,gnomAD
DLG1	Q12959	p.Gly639Arg	rs369412843	missense variant	-	NC_000003.12:g.197085602C>T	ESP,gnomAD
DLG1	Q12959	p.Gly639Arg	rs369412843	missense variant	-	NC_000003.12:g.197085602C>G	ESP,gnomAD
DLG1	Q12959	p.Ile641Leu	rs763252926	missense variant	-	NC_000003.12:g.197085596T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile641Val	rs763252926	missense variant	-	NC_000003.12:g.197085596T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys644Ile	rs763877437	missense variant	-	NC_000003.12:g.197085586T>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg645Cys	rs1370279637	missense variant	-	NC_000003.12:g.197085584G>A	gnomAD
DLG1	Q12959	p.Arg645Pro	rs1188424272	missense variant	-	NC_000003.12:g.197085583C>G	gnomAD
DLG1	Q12959	p.Arg646Gly	rs760234405	missense variant	-	NC_000003.12:g.197085581T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg652Gln	rs200616174	missense variant	-	NC_000003.12:g.197081100C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg654Gly	rs767076677	missense variant	-	NC_000003.12:g.197081095G>C	ExAC,gnomAD
DLG1	Q12959	p.Arg654Gln	rs560145346	missense variant	-	NC_000003.12:g.197081094C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn661Ser	rs983465160	missense variant	-	NC_000003.12:g.197081073T>C	TOPMed
DLG1	Q12959	p.Ser662Cys	rs773970168	missense variant	-	NC_000003.12:g.197081070G>C	ExAC,gnomAD
DLG1	Q12959	p.Thr664Met	rs945330889	missense variant	-	NC_000003.12:g.197081064G>A	TOPMed,gnomAD
DLG1	Q12959	p.Arg665Thr	rs775676371	missense variant	-	NC_000003.12:g.197081061C>G	gnomAD
DLG1	Q12959	p.Asp666Gly	rs952945407	missense variant	-	NC_000003.12:g.197081058T>C	TOPMed,gnomAD
DLG1	Q12959	p.Asp666Asn	rs1426738053	missense variant	-	NC_000003.12:g.197081059C>T	TOPMed
DLG1	Q12959	p.Asp666Glu	rs35430440	missense variant	-	NC_000003.12:g.197081057A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu669Gly	rs200527966	missense variant	-	NC_000003.12:g.197075869T>C	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Asp672Asn	rs774486492	missense variant	-	NC_000003.12:g.197075861C>T	ExAC,gnomAD
DLG1	Q12959	p.Met674Thr	rs201276458	missense variant	-	NC_000003.12:g.197075854A>G	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser676Leu	rs1322528178	missense variant	-	NC_000003.12:g.197075848G>A	TOPMed
DLG1	Q12959	p.Gly678Asp	rs1209314980	missense variant	-	NC_000003.12:g.197075842C>T	TOPMed
DLG1	Q12959	p.Lys680Asn	rs759793588	missense variant	-	NC_000003.12:g.197069259C>G	ExAC,gnomAD
DLG1	Q12959	p.Thr683Ile	rs774306039	missense variant	-	NC_000003.12:g.197069251G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Thr	rs770973751	missense variant	-	NC_000003.12:g.197069249A>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Tyr	rs749786841	missense variant	-	NC_000003.12:g.197069248G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Cys	rs749786841	missense variant	-	NC_000003.12:g.197069248G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Phe	rs749786841	missense variant	-	NC_000003.12:g.197069248G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala686Thr	rs914508596	missense variant	-	NC_000003.12:g.197069243C>T	gnomAD
DLG1	Q12959	p.Asp688Asn	rs773802586	missense variant	-	NC_000003.12:g.197069237C>T	ExAC,gnomAD
DLG1	Q12959	p.Asp688Gly	rs770401999	missense variant	-	NC_000003.12:g.197069236T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser689Thr	rs1204784700	missense variant	-	NC_000003.12:g.197069233C>G	gnomAD
DLG1	Q12959	p.Arg694Cys	rs74674649	missense variant	-	NC_000003.12:g.197069219G>A	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gly695Asp	rs766663727	missense variant	-	NC_000003.12:g.197066751C>T	ExAC,gnomAD
DLG1	Q12959	p.Glu698Asp	rs763262067	missense variant	-	NC_000003.12:g.197066741T>G	ExAC
DLG1	Q12959	p.Tyr699His	rs750587478	missense variant	-	NC_000003.12:g.197066740A>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val700Ile	rs556519100	missense variant	-	NC_000003.12:g.197066737C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser702Pro	rs1162588138	missense variant	-	NC_000003.12:g.197066731A>G	TOPMed,gnomAD
DLG1	Q12959	p.Ser702Phe	rs777149136	missense variant	-	NC_000003.12:g.197066730G>A	ExAC,gnomAD
DLG1	Q12959	p.Tyr703Asn	rs769021454	missense variant	-	NC_000003.12:g.197066728A>T	ExAC,gnomAD
DLG1	Q12959	p.Pro705Ser	rs1213912687	missense variant	-	NC_000003.12:g.197066722G>A	gnomAD
DLG1	Q12959	p.Tyr713Cys	rs1346596857	missense variant	-	NC_000003.12:g.197065803T>C	TOPMed
DLG1	Q12959	p.Thr714Ile	rs767805250	missense variant	-	NC_000003.12:g.197065800G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg715Ter	rs1299861705	stop gained	-	NC_000003.12:g.197065798G>A	TOPMed
DLG1	Q12959	p.Arg715Gln	rs537841426	missense variant	-	NC_000003.12:g.197065797C>T	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Val717Leu	rs148283553	missense variant	-	NC_000003.12:g.197065792C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val717Ala	rs997668270	missense variant	-	NC_000003.12:g.197065791A>G	TOPMed,gnomAD
DLG1	Q12959	p.Ile719Val	rs747730053	missense variant	-	NC_000003.12:g.197065786T>C	ExAC,gnomAD
DLG1	Q12959	p.Met723Thr	rs1189203679	missense variant	-	NC_000003.12:g.197065773A>G	TOPMed
DLG1	Q12959	p.Met723Val	rs1317434987	missense variant	-	NC_000003.12:g.197065774T>C	TOPMed,gnomAD
DLG1	Q12959	p.Asp725Glu	rs1417747792	missense variant	-	NC_000003.12:g.197065766G>C	gnomAD
DLG1	Q12959	p.Arg726Ser	rs1377150302	missense variant	-	NC_000003.12:g.197065763C>A	gnomAD
DLG1	Q12959	p.Arg726Lys	rs956412267	missense variant	-	NC_000003.12:g.197065764C>T	TOPMed,gnomAD
DLG1	Q12959	p.Asp729His	rs1163188867	missense variant	-	NC_000003.12:g.197065756C>G	gnomAD
DLG1	Q12959	p.Leu731Val	rs1174213132	missense variant	-	NC_000003.12:g.197065750A>C	TOPMed,gnomAD
DLG1	Q12959	p.Leu731Phe	rs776000134	missense variant	-	NC_000003.12:g.197065748C>G	ExAC,gnomAD
DLG1	Q12959	p.Leu731Trp	rs1239607317	missense variant	-	NC_000003.12:g.197065749A>C	gnomAD
DLG1	Q12959	p.Phe735Leu	rs1180430022	missense variant	-	NC_000003.12:g.197065736A>T	TOPMed
DLG1	Q12959	p.Pro736His	rs768695952	missense variant	-	NC_000003.12:g.197065734G>T	ExAC,gnomAD
DLG1	Q12959	p.Pro736Ala	rs1392733077	missense variant	-	NC_000003.12:g.197065735G>C	gnomAD
DLG1	Q12959	p.Lys738Thr	rs1180060626	missense variant	-	NC_000003.12:g.197065728T>G	gnomAD
DLG1	Q12959	p.Ser741Thr	rs1191537594	missense variant	-	NC_000003.12:g.197065720A>T	gnomAD
DLG1	Q12959	p.His745Tyr	rs746862777	missense variant	-	NC_000003.12:g.197065708G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg751Ter	rs1390220134	stop gained	-	NC_000003.12:g.197065431G>A	-
DLG1	Q12959	p.Tyr753His	rs1293745338	missense variant	-	NC_000003.12:g.197065425A>G	gnomAD
DLG1	Q12959	p.Arg758Gly	rs1200127049	missense variant	-	NC_000003.12:g.197065410T>C	TOPMed,gnomAD
DLG1	Q12959	p.Asp759Val	rs749406565	missense variant	-	NC_000003.12:g.197065406T>A	ExAC,gnomAD
DLG1	Q12959	p.Asp759Asn	rs556487482	missense variant	-	NC_000003.12:g.197065407C>T	gnomAD
DLG1	Q12959	p.Val763Leu	rs756095854	missense variant	-	NC_000003.12:g.197065395C>G	ExAC,gnomAD
DLG1	Q12959	p.Arg766Gly	rs1353418226	missense variant	-	NC_000003.12:g.197065386T>C	gnomAD
DLG1	Q12959	p.Asp772Asn	rs752749827	missense variant	-	NC_000003.12:g.197065368C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile773Val	rs1462741886	missense variant	-	NC_000003.12:g.197065365T>C	gnomAD
DLG1	Q12959	p.Gln774Arg	rs755469316	missense variant	-	NC_000003.12:g.197065361T>C	ExAC,gnomAD
DLG1	Q12959	p.Gln774Glu	rs1164704741	missense variant	-	NC_000003.12:g.197065362G>C	TOPMed,gnomAD
DLG1	Q12959	p.His776Arg	rs1410733645	missense variant	-	NC_000003.12:g.197065355T>C	gnomAD
DLG1	Q12959	p.Lys777Glu	rs751977122	missense variant	-	NC_000003.12:g.197065353T>C	ExAC,gnomAD
DLG1	Q12959	p.Ile779Leu	rs375924494	missense variant	-	NC_000003.12:g.197065347T>G	ESP,ExAC,gnomAD
DLG1	Q12959	p.Ile779Thr	rs761529133	missense variant	-	NC_000003.12:g.197065346A>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Tyr784Cys	rs1215777777	missense variant	-	NC_000003.12:g.197065331T>C	gnomAD
DLG1	Q12959	p.Asn786Ile	rs117248178	missense variant	-	NC_000003.12:g.197065325T>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn786His	rs1469114069	missense variant	-	NC_000003.12:g.197065326T>G	gnomAD
DLG1	Q12959	p.Asn786Ser	rs117248178	missense variant	-	NC_000003.12:g.197065325T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His787Leu	rs760144420	missense variant	-	NC_000003.12:g.197065322T>A	ExAC,gnomAD
DLG1	Q12959	p.Gly790Glu	rs371009210	missense variant	-	NC_000003.12:g.197065313C>T	ESP,TOPMed
DLG1	Q12959	p.Ser792Arg	rs772194713	missense variant	-	NC_000003.12:g.197065306A>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val793Leu	rs759493254	missense variant	-	NC_000003.12:g.197065305C>G	ExAC,gnomAD
DLG1	Q12959	p.Gln794His	rs774295386	missense variant	-	NC_000003.12:g.197065300C>A	ExAC,gnomAD
DLG1	Q12959	p.Ser795Phe	rs770595172	missense variant	-	NC_000003.12:g.197065298G>A	ExAC,gnomAD
DLG1	Q12959	p.Val796Ile	rs994269079	missense variant	-	NC_000003.12:g.197065296C>T	TOPMed,gnomAD
DLG1	Q12959	p.Val796Leu	rs994269079	missense variant	-	NC_000003.12:g.197065296C>G	TOPMed,gnomAD
DLG1	Q12959	p.Arg797Gln	rs78190191	missense variant	-	NC_000003.12:g.197065292C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg797Gly	rs749544930	missense variant	-	NC_000003.12:g.197065293G>C	ExAC,gnomAD
DLG1	Q12959	p.His805Tyr	rs1394624305	missense variant	-	NC_000003.12:g.197059992G>A	gnomAD
DLG1	Q12959	p.Ala814Ser	rs748311393	missense variant	-	NC_000003.12:g.197059965C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile815Met	rs768680905	missense variant	-	NC_000003.12:g.197059960T>C	ExAC,gnomAD
DLG1	Q12959	p.Gln819Arg	rs1487850364	missense variant	-	NC_000003.12:g.197059949T>C	gnomAD
DLG1	Q12959	p.Leu823Val	rs747535008	missense variant	-	NC_000003.12:g.197059938G>C	ExAC,gnomAD
DLG1	Q12959	p.Pro825Ala	rs746276285	missense variant	-	NC_000003.12:g.197059932G>C	ExAC,gnomAD
DLG1	Q12959	p.Ile826Val	rs779280165	missense variant	-	NC_000003.12:g.197059929T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile826Leu	rs779280165	missense variant	-	NC_000003.12:g.197059929T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile828Leu	rs769701427	missense variant	-	NC_000003.12:g.197059923T>G	ExAC,gnomAD
DLG1	Q12959	p.Ile828Val	rs769701427	missense variant	-	NC_000003.12:g.197059923T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser834Phe	rs752360157	missense variant	-	NC_000003.12:g.197059904G>A	ExAC,gnomAD
DLG1	Q12959	p.Met835Val	rs1338921032	missense variant	-	NC_000003.12:g.197059902T>C	gnomAD
DLG1	Q12959	p.Met835Ile	rs377083623	missense variant	-	NC_000003.12:g.197059900C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn837Ser	rs775565630	missense variant	-	NC_000003.12:g.197059895T>C	gnomAD
DLG1	Q12959	p.Ile838Asn	rs1374901932	missense variant	-	NC_000003.12:g.197059892A>T	TOPMed,gnomAD
DLG1	Q12959	p.Met839Arg	rs754581777	missense variant	-	NC_000003.12:g.197059889A>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Met839Thr	rs754581777	missense variant	-	NC_000003.12:g.197059889A>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Met841Ile	rs754670124	missense variant	-	NC_000003.12:g.197051662C>T	ExAC,gnomAD
DLG1	Q12959	p.Met841Val	rs1456199282	missense variant	-	NC_000003.12:g.197051664T>C	gnomAD
DLG1	Q12959	p.Arg844His	rs779555154	missense variant	-	NC_000003.12:g.197051654C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg844Cys	rs751084251	missense variant	-	NC_000003.12:g.197051655G>A	ExAC,gnomAD
DLG1	Q12959	p.Gln849Ter	rs1282868964	stop gained	-	NC_000003.12:g.197051640G>A	gnomAD
DLG1	Q12959	p.Thr853Ala	rs758272031	missense variant	-	NC_000003.12:g.197051628T>C	ExAC,gnomAD
DLG1	Q12959	p.Phe854Tyr	rs1354149750	missense variant	-	NC_000003.12:g.197051624A>T	gnomAD
DLG1	Q12959	p.Glu855Gly	rs1306451100	missense variant	-	NC_000003.12:g.197051621T>C	gnomAD
DLG1	Q12959	p.Arg856Thr	rs750334615	missense variant	-	NC_000003.12:g.197051618C>G	ExAC,gnomAD
DLG1	Q12959	p.Met858Val	rs368819214	missense variant	-	NC_000003.12:g.197051613T>C	ESP,ExAC,gnomAD
DLG1	Q12959	p.Lys859Thr	rs1311102081	missense variant	-	NC_000003.12:g.197051609T>G	gnomAD
DLG1	Q12959	p.Glu861Asp	rs1326854738	missense variant	-	NC_000003.12:g.197051602T>G	gnomAD
DLG1	Q12959	p.Glu866Gln	rs1461717180	missense variant	-	NC_000003.12:g.197051589C>G	gnomAD
DLG1	Q12959	p.His867Asp	rs1389756156	missense variant	-	NC_000003.12:g.197051586G>C	gnomAD
DLG1	Q12959	p.Ile871Val	rs779459646	missense variant	-	NC_000003.12:g.197044727T>C	ExAC,gnomAD
DLG1	Q12959	p.Val872Ala	rs1478761741	missense variant	-	NC_000003.12:g.197044723A>G	gnomAD
DLG1	Q12959	p.Gln873Arg	rs1283231928	missense variant	-	NC_000003.12:g.197044720T>C	TOPMed
DLG1	Q12959	p.Asp875Asn	rs778889719	missense variant	-	NC_000003.12:g.197044715C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp875His	rs778889719	missense variant	-	NC_000003.12:g.197044715C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr876Met	rs765371853	missense variant	-	NC_000003.12:g.197044711G>A	TOPMed,gnomAD
DLG1	Q12959	p.Leu877Arg	rs763811548	missense variant	-	NC_000003.12:g.197044708A>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp879Asn	rs368567166	missense variant	-	NC_000003.12:g.197044703C>T	ExAC,gnomAD
DLG1	Q12959	p.Asp879Tyr	rs368567166	missense variant	-	NC_000003.12:g.197044703C>A	ExAC,gnomAD
DLG1	Q12959	p.Asn882Tyr	rs752917348	missense variant	-	NC_000003.12:g.197044694T>A	ExAC,gnomAD
DLG1	Q12959	p.Gln886Arg	rs1180633741	missense variant	-	NC_000003.12:g.197044681T>C	TOPMed
DLG1	Q12959	p.Gln891Pro	rs776026149	missense variant	-	NC_000003.12:g.197044666T>G	TOPMed,gnomAD
DLG1	Q12959	p.Gln891Lys	rs1350141676	missense variant	-	NC_000003.12:g.197044667G>T	gnomAD
DLG1	Q12959	p.Pro899Leu	rs34492126	missense variant	-	NC_000003.12:g.197044642G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala900Thr	rs770242553	missense variant	-	NC_000003.12:g.197044640C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys901Asn	rs746662289	missense variant	-	NC_000003.12:g.197044635T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys903Asn	rs760593370	missense variant	-	NC_000003.12:g.197044629C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu904Pro	rs1334292456	missense variant	-	NC_000003.12:g.197044627A>G	gnomAD
DLG1	Q12959	p.Pro2Gln	rs78766456	missense variant	-	NC_000003.12:g.197297200G>T	TOPMed
DLG1	Q12959	p.Val3Leu	rs1360079948	missense variant	-	NC_000003.12:g.197297198C>G	gnomAD
DLG1	Q12959	p.Arg4Trp	rs1413258286	missense variant	-	NC_000003.12:g.197297195G>A	gnomAD
DLG1	Q12959	p.Lys5Asn	rs761158636	missense variant	-	NC_000003.12:g.197297190C>G	ExAC,gnomAD
DLG1	Q12959	p.Asp7His	rs1241629571	missense variant	-	NC_000003.12:g.197297186C>G	TOPMed
DLG1	Q12959	p.Thr8Ile	rs1159618844	missense variant	-	NC_000003.12:g.197296474G>A	TOPMed
DLG1	Q12959	p.Gln9Arg	rs1037047320	missense variant	-	NC_000003.12:g.197296471T>C	TOPMed
DLG1	Q12959	p.His13Gln	rs772746560	missense variant	-	NC_000003.12:g.197296458G>T	ExAC,gnomAD
DLG1	Q12959	p.Glu16Gly	rs769433622	missense variant	-	NC_000003.12:g.197296450T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg19Leu	rs149422844	missense variant	-	NC_000003.12:g.197296441C>A	ESP,TOPMed,gnomAD
DLG1	Q12959	p.Arg19His	rs149422844	missense variant	-	NC_000003.12:g.197296441C>T	ESP,TOPMed,gnomAD
DLG1	Q12959	p.Ser20Leu	rs761550433	missense variant	-	NC_000003.12:g.197296438G>A	ExAC,gnomAD
DLG1	Q12959	p.Gln24Arg	rs750624859	missense variant	-	NC_000003.12:g.197296426T>C	ExAC,gnomAD
DLG1	Q12959	p.Gln24Leu	rs750624859	missense variant	-	NC_000003.12:g.197296426T>A	ExAC,gnomAD
DLG1	Q12959	p.Thr25Ala	rs768255606	missense variant	-	NC_000003.12:g.197296424T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu26Ala	rs577307210	missense variant	-	NC_000003.12:g.197296420T>G	1000Genomes,TOPMed
DLG1	Q12959	p.Glu26Ter	rs1369759761	stop gained	-	NC_000003.12:g.197296421C>A	TOPMed
DLG1	Q12959	p.Asp27His	rs780001107	missense variant	-	NC_000003.12:g.197296418C>G	ExAC,gnomAD
DLG1	Q12959	p.Arg28Ser	rs771768390	missense variant	-	NC_000003.12:g.197296413T>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln29His	rs745616960	missense variant	-	NC_000003.12:g.197296410C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser33Cys	rs778558896	missense variant	-	NC_000003.12:g.197296399G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser33Phe	rs778558896	missense variant	-	NC_000003.12:g.197296399G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile34Val	rs757543373	missense variant	-	NC_000003.12:g.197296397T>C	ExAC
DLG1	Q12959	p.Arg36Trp	rs749483264	missense variant	-	NC_000003.12:g.197296391G>A	ExAC,gnomAD
DLG1	Q12959	p.Ile40Thr	rs1283691085	missense variant	-	NC_000003.12:g.197296378A>G	TOPMed
DLG1	Q12959	p.Phe41Cys	rs1441819158	missense variant	-	NC_000003.12:g.197296375A>C	gnomAD
DLG1	Q12959	p.Ser43Arg	rs1457261636	missense variant	-	NC_000003.12:g.197296368G>C	TOPMed,gnomAD
DLG1	Q12959	p.Ser43Arg	rs1457261636	missense variant	-	NC_000003.12:g.197296368G>T	TOPMed,gnomAD
DLG1	Q12959	p.Ser43Asn	rs756139447	missense variant	-	NC_000003.12:g.197296369C>T	ExAC,gnomAD
DLG1	Q12959	p.Ser43Cys	rs188448033	missense variant	-	NC_000003.12:g.197296370T>A	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Asn44Tyr	rs1248338765	missense variant	-	NC_000003.12:g.197296367T>A	gnomAD
DLG1	Q12959	p.Leu45Val	rs753180157	missense variant	-	NC_000003.12:g.197296364G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu45Phe	rs753180157	missense variant	-	NC_000003.12:g.197296364G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln47Glu	rs1468203694	missense variant	-	NC_000003.12:g.197296358G>C	TOPMed
DLG1	Q12959	p.Asp51Glu	rs1418139795	missense variant	-	NC_000003.12:g.197282844A>T	gnomAD
DLG1	Q12959	p.Ile52Thr	rs1231675229	missense variant	-	NC_000003.12:g.197282842A>G	TOPMed,gnomAD
DLG1	Q12959	p.Tyr56Cys	rs1174161288	missense variant	-	NC_000003.12:g.197282830T>C	gnomAD
DLG1	Q12959	p.Thr59Ile	rs1466482748	missense variant	-	NC_000003.12:g.197282821G>A	gnomAD
DLG1	Q12959	p.Leu61Pro	rs1368073847	missense variant	-	NC_000003.12:g.197282815A>G	TOPMed
DLG1	Q12959	p.Leu61Met	rs1377002963	missense variant	-	NC_000003.12:g.197282816G>T	TOPMed,gnomAD
DLG1	Q12959	p.Asp62Gly	rs1293912265	missense variant	-	NC_000003.12:g.197282812T>C	gnomAD
DLG1	Q12959	p.Pro64Arg	rs1236133173	missense variant	-	NC_000003.12:g.197282806G>C	TOPMed
DLG1	Q12959	p.Asp68Gly	rs373055195	missense variant	-	NC_000003.12:g.197282794T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg69His	rs775132251	missense variant	-	NC_000003.12:g.197282791C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg69Pro	rs775132251	missense variant	-	NC_000003.12:g.197282791C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg69Cys	rs753543349	missense variant	-	NC_000003.12:g.197282792G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg69Leu	rs775132251	missense variant	-	NC_000003.12:g.197282791C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser70Leu	rs766907125	missense variant	-	NC_000003.12:g.197282788G>A	ExAC,gnomAD
DLG1	Q12959	p.Lys71Glu	rs368806057	missense variant	-	NC_000003.12:g.197282786T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro72Leu	rs1201452687	missense variant	-	NC_000003.12:g.197282782G>A	TOPMed,gnomAD
DLG1	Q12959	p.Ser73Cys	rs749018763	missense variant	-	NC_000003.12:g.197282779G>C	ExAC,gnomAD
DLG1	Q12959	p.Pro78Leu	rs113378155	missense variant	-	NC_000003.12:g.197282764G>A	ExAC,gnomAD
DLG1	Q12959	p.Val79Met	rs770063351	missense variant	-	NC_000003.12:g.197282762C>T	ExAC,gnomAD
DLG1	Q12959	p.Asn80Ser	rs748318075	missense variant	-	NC_000003.12:g.197282758T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr81Ile	rs1398364706	missense variant	-	NC_000003.12:g.197282755G>A	gnomAD
DLG1	Q12959	p.Ile84Asn	rs781377410	missense variant	-	NC_000003.12:g.197282746A>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile84Leu	rs1241678036	missense variant	-	NC_000003.12:g.197282747T>G	TOPMed
DLG1	Q12959	p.Leu87Phe	rs199887410	missense variant	-	NC_000003.12:g.197282738G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser89Gly	rs1174224321	missense variant	-	NC_000003.12:g.197282732T>C	gnomAD
DLG1	Q12959	p.Ser89Thr	rs747579335	missense variant	-	NC_000003.12:g.197282731C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser90Ala	rs1423695387	missense variant	-	NC_000003.12:g.197282729A>C	gnomAD
DLG1	Q12959	p.Thr96Arg	rs1158696537	missense variant	-	NC_000003.12:g.197282710G>C	TOPMed
DLG1	Q12959	p.Thr96Ala	rs1474220632	missense variant	-	NC_000003.12:g.197282711T>C	TOPMed,gnomAD
DLG1	Q12959	p.Pro98Gln	rs150727151	missense variant	-	NC_000003.12:g.197282704G>T	ESP,ExAC,gnomAD
DLG1	Q12959	p.Ser99Gly	rs758845252	missense variant	-	NC_000003.12:g.197282702T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser100Gly	rs750875663	missense variant	-	NC_000003.12:g.197282699T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser102Arg	rs779415338	missense variant	-	NC_000003.12:g.197282691G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro103Arg	rs755832669	missense variant	-	NC_000003.12:g.197282689G>C	ExAC,gnomAD
DLG1	Q12959	p.Glu106Gln	rs141505047	missense variant	-	NC_000003.12:g.197282681C>G	ESP
DLG1	Q12959	p.Lys107Glu	rs1218460472	missense variant	-	NC_000003.12:g.197194589T>C	gnomAD
DLG1	Q12959	p.Tyr110His	rs765874369	missense variant	-	NC_000003.12:g.197194580A>G	ExAC,gnomAD
DLG1	Q12959	p.Asp112Gly	rs750308804	missense variant	-	NC_000003.12:g.197194573T>C	ExAC,gnomAD
DLG1	Q12959	p.Thr115Ala	rs765108328	missense variant	-	NC_000003.12:g.197194565T>C	ExAC,gnomAD
DLG1	Q12959	p.Thr115Lys	rs1227276096	missense variant	-	NC_000003.12:g.197194564G>T	TOPMed
DLG1	Q12959	p.Pro116Ser	rs761445608	missense variant	-	NC_000003.12:g.197194562G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro117Leu	rs1273217820	missense variant	-	NC_000003.12:g.197194558G>A	TOPMed
DLG1	Q12959	p.Pro117Ser	rs776924302	missense variant	-	NC_000003.12:g.197194559G>A	ExAC,gnomAD
DLG1	Q12959	p.Glu119Gly	rs1419972113	missense variant	-	NC_000003.12:g.197194552T>C	gnomAD
DLG1	Q12959	p.Glu119Lys	rs367578142	missense variant	-	NC_000003.12:g.197194553C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His120Arg	rs1157450269	missense variant	-	NC_000003.12:g.197194549T>C	gnomAD
DLG1	Q12959	p.Gln124His	rs1426491971	missense variant	-	NC_000003.12:g.197194536T>A	TOPMed,gnomAD
DLG1	Q12959	p.Ile125Thr	rs527829647	missense variant	-	NC_000003.12:g.197194534A>G	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn127Lys	rs772257843	missense variant	-	NC_000003.12:g.197194527A>C	ExAC,gnomAD
DLG1	Q12959	p.Val129Met	rs895110045	missense variant	-	NC_000003.12:g.197194523C>T	TOPMed,gnomAD
DLG1	Q12959	p.Ile130Val	rs1488117119	missense variant	-	NC_000003.12:g.197194520T>C	gnomAD
DLG1	Q12959	p.Gly131Ala	rs1241297752	missense variant	-	NC_000003.12:g.197194516C>G	gnomAD
DLG1	Q12959	p.Pro132Leu	rs746399513	missense variant	-	NC_000003.12:g.197194513G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro132Thr	rs1038182821	missense variant	-	NC_000003.12:g.197194514G>T	TOPMed,gnomAD
DLG1	Q12959	p.Val135Ala	rs1279269818	missense variant	-	NC_000003.12:g.197194504A>G	gnomAD
DLG1	Q12959	p.Ser138Leu	rs774682995	missense variant	-	NC_000003.12:g.197194495G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu139Lys	rs376212918	missense variant	-	NC_000003.12:g.197194493C>T	ESP,ExAC,gnomAD
DLG1	Q12959	p.Lys140Arg	rs1802668	missense variant	-	NC_000003.12:g.197194489T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser143Pro	rs142567887	missense variant	-	NC_000003.12:g.197194481A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu144Val	rs757859955	missense variant	-	NC_000003.12:g.197194477T>A	ExAC,gnomAD
DLG1	Q12959	p.Glu144Lys	rs779558194	missense variant	-	NC_000003.12:g.197194478C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val152Ala	rs574735093	missense variant	-	NC_000003.12:g.197194453A>G	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His154Gln	rs1468742252	missense variant	-	NC_000003.12:g.197194446A>C	gnomAD
DLG1	Q12959	p.Ser155Phe	rs1425849751	missense variant	-	NC_000003.12:g.197194444G>A	gnomAD
DLG1	Q12959	p.His156Arg	rs765023734	missense variant	-	NC_000003.12:g.197194441T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His156Tyr	rs1171553339	missense variant	-	NC_000003.12:g.197194442G>A	TOPMed,gnomAD
DLG1	Q12959	p.Pro159Ser	rs1260212786	missense variant	-	NC_000003.12:g.197194433G>A	gnomAD
DLG1	Q12959	p.Pro159Leu	rs1408781378	missense variant	-	NC_000003.12:g.197194432G>A	TOPMed
DLG1	Q12959	p.Ile160Val	rs1293382424	missense variant	-	NC_000003.12:g.197194430T>C	TOPMed
DLG1	Q12959	p.Ile160Met	rs757204806	missense variant	-	NC_000003.12:g.197194428T>C	ExAC,gnomAD
DLG1	Q12959	p.Pro162Leu	rs201671220	missense variant	-	NC_000003.12:g.197161737G>A	1000Genomes,gnomAD
DLG1	Q12959	p.Thr163Ile	rs200061367	missense variant	-	NC_000003.12:g.197161734G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu164Asp	rs1478596224	missense variant	-	NC_000003.12:g.197161730T>A	gnomAD
DLG1	Q12959	p.Ala165Thr	rs763423341	missense variant	-	NC_000003.12:g.197161729C>T	ExAC,gnomAD
DLG1	Q12959	p.Val166Ile	rs535866775	missense variant	-	NC_000003.12:g.197161726C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu167Phe	rs770144997	missense variant	-	NC_000003.12:g.197161723G>A	ExAC,gnomAD
DLG1	Q12959	p.Ser169Phe	rs762105289	missense variant	-	NC_000003.12:g.197161716G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro170Leu	rs148027113	missense variant	-	NC_000003.12:g.197161713G>A	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro170His	rs148027113	missense variant	-	NC_000003.12:g.197161713G>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro171Ser	rs745500685	missense variant	-	NC_000003.12:g.197161711G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro174Arg	rs375133714	missense variant	-	NC_000003.12:g.197161701G>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro174Ser	rs1261261367	missense variant	-	NC_000003.12:g.197161702G>A	gnomAD
DLG1	Q12959	p.Pro174Leu	rs375133714	missense variant	-	NC_000003.12:g.197161701G>A	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val175Met	rs770426015	missense variant	-	NC_000003.12:g.197161699C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile176Thr	rs1321490916	missense variant	-	NC_000003.12:g.197161695A>G	TOPMed
DLG1	Q12959	p.Val178Ala	rs749215360	missense variant	-	NC_000003.12:g.197161689A>G	ExAC,gnomAD
DLG1	Q12959	p.Leu179Pro	rs755987767	missense variant	-	NC_000003.12:g.197161686A>G	ExAC,gnomAD
DLG1	Q12959	p.Val181Leu	rs781133340	missense variant	-	NC_000003.12:g.197161681C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val181Phe	rs781133340	missense variant	-	NC_000003.12:g.197161681C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala183Gly	rs1285541064	missense variant	-	NC_000003.12:g.197161674G>C	TOPMed
DLG1	Q12959	p.Glu184Gly	rs987384122	missense variant	-	NC_000003.12:g.197161671T>C	TOPMed
DLG1	Q12959	p.Thr186Asn	rs751787367	missense variant	-	NC_000003.12:g.197161665G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr186Ala	rs755197938	missense variant	-	NC_000003.12:g.197161666T>C	ExAC,gnomAD
DLG1	Q12959	p.Val187Ile	rs1334106239	missense variant	-	NC_000003.12:g.197161663C>T	gnomAD
DLG1	Q12959	p.Ile192Val	rs377176801	missense variant	-	NC_000003.12:g.197161648T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro193Arg	rs1373068965	missense variant	-	NC_000003.12:g.197161644G>C	gnomAD
DLG1	Q12959	p.Pro193Ala	rs765788178	missense variant	-	NC_000003.12:g.197161645G>C	ExAC,gnomAD
DLG1	Q12959	p.Pro193Ser	rs765788178	missense variant	-	NC_000003.12:g.197161645G>A	ExAC,gnomAD
DLG1	Q12959	p.Gln194Leu	rs762301667	missense variant	-	NC_000003.12:g.197161641T>A	ExAC,gnomAD
DLG1	Q12959	p.Asn196Tyr	rs1232310719	missense variant	-	NC_000003.12:g.197149793T>A	gnomAD
DLG1	Q12959	p.Pro197Leu	rs1220713812	missense variant	-	NC_000003.12:g.197149789G>A	TOPMed
DLG1	Q12959	p.Pro198Leu	rs1481491870	missense variant	-	NC_000003.12:g.197149786G>A	TOPMed
DLG1	Q12959	p.Pro198Ser	rs1179832376	missense variant	-	NC_000003.12:g.197149787G>A	TOPMed,gnomAD
DLG1	Q12959	p.Pro198Thr	rs1179832376	missense variant	-	NC_000003.12:g.197149787G>T	TOPMed,gnomAD
DLG1	Q12959	p.Val202Ile	rs1489345588	missense variant	-	NC_000003.12:g.197149775C>T	gnomAD
DLG1	Q12959	p.Asp205Gly	rs750566095	missense variant	-	NC_000003.12:g.197149765T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu207Ser	rs762355011	missense variant	-	NC_000003.12:g.197149759A>G	ExAC,gnomAD
DLG1	Q12959	p.Leu207Ter	rs762355011	stop gained	-	NC_000003.12:g.197149759A>T	ExAC,gnomAD
DLG1	Q12959	p.Tyr212Ter	rs752247070	stop gained	-	NC_000003.12:g.197149744dup	ExAC
DLG1	Q12959	p.Val213Ile	rs201543784	missense variant	-	NC_000003.12:g.197142768C>T	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Thr216Ile	rs767745159	missense variant	-	NC_000003.12:g.197142758G>A	ExAC,gnomAD
DLG1	Q12959	p.Asp217Gly	rs199703315	missense variant	-	NC_000003.12:g.197142755T>C	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ala218Thr	rs946264612	missense variant	-	NC_000003.12:g.197142753C>T	TOPMed,gnomAD
DLG1	Q12959	p.Asp219Gly	rs764875510	missense variant	-	NC_000003.12:g.197142749T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Tyr220Cys	rs761344305	missense variant	-	NC_000003.12:g.197142746T>C	ExAC,gnomAD
DLG1	Q12959	p.Glu223Gly	rs776264645	missense variant	-	NC_000003.12:g.197142737T>C	ExAC,gnomAD
DLG1	Q12959	p.Ile225Val	rs562094599	missense variant	-	NC_000003.12:g.197142732T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr226Lys	rs1213491567	missense variant	-	NC_000003.12:g.197142728G>T	gnomAD
DLG1	Q12959	p.Thr226Ile	rs1213491567	missense variant	-	NC_000003.12:g.197142728G>A	gnomAD
DLG1	Q12959	p.Leu227Val	rs746887337	missense variant	-	NC_000003.12:g.197142726G>C	ExAC,gnomAD
DLG1	Q12959	p.Gly230Arg	rs759277835	missense variant	-	NC_000003.12:g.197140264C>T	TOPMed
DLG1	Q12959	p.Ile238Val	rs1007791071	missense variant	-	NC_000003.12:g.197140240T>C	gnomAD
DLG1	Q12959	p.Gly240Glu	rs1049949665	missense variant	-	NC_000003.12:g.197140233C>T	TOPMed
DLG1	Q12959	p.Thr242Met	rs888923932	missense variant	-	NC_000003.12:g.197140227G>A	TOPMed,gnomAD
DLG1	Q12959	p.Asp243Asn	rs753426047	missense variant	-	NC_000003.12:g.197140225C>T	ExAC,gnomAD
DLG1	Q12959	p.Asp243Tyr	rs753426047	missense variant	-	NC_000003.12:g.197140225C>A	ExAC,gnomAD
DLG1	Q12959	p.Pro245Leu	rs763501037	missense variant	-	NC_000003.12:g.197140218G>A	ExAC,gnomAD
DLG1	Q12959	p.His246Asn	rs760676689	missense variant	-	NC_000003.12:g.197140216G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile247Phe	rs1298827905	missense variant	-	NC_000003.12:g.197140213T>A	gnomAD
DLG1	Q12959	p.Asp250Glu	rs1461669803	missense variant	-	NC_000003.12:g.197140202G>T	gnomAD
DLG1	Q12959	p.Ile255Val	rs775224987	missense variant	-	NC_000003.12:g.197140189T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile258Val	rs771932690	missense variant	-	NC_000003.12:g.197140180T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr260Ile	rs1230328994	missense variant	-	NC_000003.12:g.197140173G>A	TOPMed
DLG1	Q12959	p.Gly261Val	rs759278032	missense variant	-	NC_000003.12:g.197140170C>A	ExAC,gnomAD
DLG1	Q12959	p.Ala265Thr	rs1279456377	missense variant	-	NC_000003.12:g.197140159C>T	TOPMed
DLG1	Q12959	p.Asp267Gly	rs200110103	missense variant	-	NC_000003.12:g.197140152T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gly268Arg	rs777964838	missense variant	-	NC_000003.12:g.197140150C>T	ExAC,gnomAD
DLG1	Q12959	p.Arg271Trp	rs748689354	missense variant	-	NC_000003.12:g.197140141G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg271Gln	rs781507202	missense variant	-	NC_000003.12:g.197140140C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val272Ala	rs748123958	missense variant	-	NC_000003.12:g.197138389A>G	ExAC,gnomAD
DLG1	Q12959	p.Asn273Ser	rs200751878	missense variant	-	NC_000003.12:g.197138386T>C	ExAC,gnomAD
DLG1	Q12959	p.Cys275Ser	rs200387323	missense variant	-	NC_000003.12:g.197138381A>T	1000Genomes,gnomAD
DLG1	Q12959	p.Cys275Arg	rs200387323	missense variant	-	NC_000003.12:g.197138381A>G	1000Genomes,gnomAD
DLG1	Q12959	p.Arg278Gln	rs1134986	missense variant	-	NC_000003.12:g.197138371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val284Ile	rs375786565	missense variant	-	NC_000003.12:g.197138354C>T	ESP,gnomAD
DLG1	Q12959	p.Val284Leu	rs375786565	missense variant	-	NC_000003.12:g.197138354C>G	ESP,gnomAD
DLG1	Q12959	p.Arg285Leu	rs545509250	missense variant	-	NC_000003.12:g.197138350C>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg285His	rs545509250	missense variant	-	NC_000003.12:g.197138350C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg285Cys	rs1452989685	missense variant	-	NC_000003.12:g.197138351G>A	gnomAD
DLG1	Q12959	p.Asp286Tyr	rs1178053626	missense variant	-	NC_000003.12:g.197138348C>A	TOPMed,gnomAD
DLG1	Q12959	p.Asp286Asn	rs1178053626	missense variant	-	NC_000003.12:g.197138348C>T	TOPMed,gnomAD
DLG1	Q12959	p.Lys291Glu	rs1197166530	missense variant	-	NC_000003.12:g.197138333T>C	gnomAD
DLG1	Q12959	p.Val293Phe	rs752188815	missense variant	-	NC_000003.12:g.197138327C>A	ExAC,gnomAD
DLG1	Q12959	p.Ala295Val	rs2271822	missense variant	-	NC_000003.12:g.197138320G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala295Thr	rs753983939	missense variant	-	NC_000003.12:g.197138321C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys297Arg	rs762612391	missense variant	-	NC_000003.12:g.197138314T>C	ExAC,gnomAD
DLG1	Q12959	p.Glu298Val	rs765421513	missense variant	-	NC_000003.12:g.197138311T>A	ExAC,gnomAD
DLG1	Q12959	p.Ile302Val	rs776911663	missense variant	-	NC_000003.12:g.197138300T>C	ExAC,gnomAD
DLG1	Q12959	p.Val303Ile	rs1412517617	missense variant	-	NC_000003.12:g.197138297C>T	TOPMed
DLG1	Q12959	p.Arg304His	rs768801019	missense variant	-	NC_000003.12:g.197138293C>T	ExAC,gnomAD
DLG1	Q12959	p.Arg304Cys	rs201153255	missense variant	-	NC_000003.12:g.197138294G>A	1000Genomes,ESP,TOPMed,gnomAD
DLG1	Q12959	p.Val307Ile	rs566667266	missense variant	-	NC_000003.12:g.197138285C>T	1000Genomes
DLG1	Q12959	p.Lys308Asn	rs914853180	missense variant	-	NC_000003.12:g.197138280T>G	TOPMed,gnomAD
DLG1	Q12959	p.Arg309Thr	rs1398041564	missense variant	-	NC_000003.12:g.197138278C>G	TOPMed
DLG1	Q12959	p.Arg310Lys	rs1445894831	missense variant	-	NC_000003.12:g.197138275C>T	TOPMed
DLG1	Q12959	p.Pro312Leu	rs1170396545	missense variant	-	NC_000003.12:g.197138269G>A	gnomAD
DLG1	Q12959	p.Val313Leu	rs772510206	missense variant	-	NC_000003.12:g.197138267C>G	ExAC,gnomAD
DLG1	Q12959	p.Val313Met	rs772510206	missense variant	-	NC_000003.12:g.197138267C>T	ExAC,gnomAD
DLG1	Q12959	p.Val313Ala	rs746268013	missense variant	-	NC_000003.12:g.197138266A>G	ExAC,gnomAD
DLG1	Q12959	p.Met318Val	rs1245562701	missense variant	-	NC_000003.12:g.197138252T>C	gnomAD
DLG1	Q12959	p.Ile320Val	rs1337187142	missense variant	-	NC_000003.12:g.197138246T>C	TOPMed
DLG1	Q12959	p.Leu322Pro	rs754416713	missense variant	-	NC_000003.12:g.197138239A>G	ExAC,gnomAD
DLG1	Q12959	p.Leu322Ile	rs780691676	missense variant	-	NC_000003.12:g.197138240G>T	ExAC,gnomAD
DLG1	Q12959	p.Gly325Ser	rs371237523	missense variant	-	NC_000003.12:g.197138231C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro326Ser	rs554805815	missense variant	-	NC_000003.12:g.197138228G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser332Asn	rs1319458820	missense variant	-	NC_000003.12:g.197136666C>T	TOPMed
DLG1	Q12959	p.Gly335Glu	rs1196340610	missense variant	-	NC_000003.12:g.197136657C>T	TOPMed
DLG1	Q12959	p.Gly336Asp	rs1293689559	missense variant	-	NC_000003.12:g.197136654C>T	gnomAD
DLG1	Q12959	p.Val337Ile	rs1246540630	missense variant	-	NC_000003.12:g.197136652C>T	gnomAD
DLG1	Q12959	p.Gln340Glu	rs1443802262	missense variant	-	NC_000003.12:g.197136643G>C	TOPMed,gnomAD
DLG1	Q12959	p.Gln340His	rs779539639	missense variant	-	NC_000003.12:g.197136641C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln340His	rs779539639	missense variant	-	NC_000003.12:g.197136641C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln340Ter	rs1443802262	stop gained	-	NC_000003.12:g.197136643G>A	TOPMed,gnomAD
DLG1	Q12959	p.Ser347Gly	rs1367779581	missense variant	-	NC_000003.12:g.197136622T>C	gnomAD
DLG1	Q12959	p.Ser347Asn	rs147695740	missense variant	-	NC_000003.12:g.197136621C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile348Val	rs1424577122	missense variant	-	NC_000003.12:g.197136619T>C	gnomAD
DLG1	Q12959	p.Tyr349Cys	rs748424022	missense variant	-	NC_000003.12:g.197136615T>C	ExAC,gnomAD
DLG1	Q12959	p.Tyr349Asn	rs369164854	missense variant	-	NC_000003.12:g.197136616A>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys352Gln	rs1478869912	missense variant	-	NC_000003.12:g.197136607T>G	TOPMed
DLG1	Q12959	p.Ile353Val	rs754136465	missense variant	-	NC_000003.12:g.197136604T>C	ExAC,gnomAD
DLG1	Q12959	p.Gly356Val	rs1363326788	missense variant	-	NC_000003.12:g.197136594C>A	gnomAD
DLG1	Q12959	p.Ala358Thr	rs1400660791	missense variant	-	NC_000003.12:g.197136589C>T	gnomAD
DLG1	Q12959	p.His360Arg	rs764460628	missense variant	-	NC_000003.12:g.197136582T>C	ExAC,gnomAD
DLG1	Q12959	p.His360Gln	rs1168555834	missense variant	-	NC_000003.12:g.197136581A>C	TOPMed
DLG1	Q12959	p.Gly363Asp	rs866931281	missense variant	-	NC_000003.12:g.197136573C>T	gnomAD
DLG1	Q12959	p.Ile367Val	rs1354190896	missense variant	-	NC_000003.12:g.197136562T>C	TOPMed
DLG1	Q12959	p.Lys370Thr	rs1287689935	missense variant	-	NC_000003.12:g.197136552T>G	TOPMed,gnomAD
DLG1	Q12959	p.Ala373Ser	rs767620325	missense variant	-	NC_000003.12:g.197136544C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala373Val	rs925129156	missense variant	-	NC_000003.12:g.197136543G>A	TOPMed,gnomAD
DLG1	Q12959	p.Asn376Asp	rs145398232	missense variant	-	NC_000003.12:g.197130665T>C	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val377Leu	rs151290819	missense variant	-	NC_000003.12:g.197130662C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val377Ile	rs151290819	missense variant	-	NC_000003.12:g.197130662C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val382Ile	rs1217272197	missense variant	-	NC_000003.12:g.197130647C>T	TOPMed
DLG1	Q12959	p.Glu386Ala	rs749214941	missense variant	-	NC_000003.12:g.197130634T>G	gnomAD
DLG1	Q12959	p.Glu386Lys	rs763415685	missense variant	-	NC_000003.12:g.197130635C>T	ExAC,gnomAD
DLG1	Q12959	p.Ala387Thr	rs1263238877	missense variant	-	NC_000003.12:g.197130632C>T	gnomAD
DLG1	Q12959	p.Ala390Val	rs760326904	missense variant	-	NC_000003.12:g.197130622G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr394Ile	rs1029549769	missense variant	-	NC_000003.12:g.197130610G>A	TOPMed
DLG1	Q12959	p.Ser395Pro	rs376762712	missense variant	-	NC_000003.12:g.197130608A>G	ESP,TOPMed,gnomAD
DLG1	Q12959	p.Ser395Cys	rs571186311	missense variant	-	NC_000003.12:g.197130607G>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser395Tyr	rs571186311	missense variant	-	NC_000003.12:g.197130607G>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Phe397Leu	rs936497033	missense variant	-	NC_000003.12:g.197130600A>C	gnomAD
DLG1	Q12959	p.Phe397Leu	rs936497033	missense variant	-	NC_000003.12:g.197130600A>T	gnomAD
DLG1	Q12959	p.Lys401Ile	rs749224526	missense variant	-	NC_000003.12:g.197130589T>A	ExAC,gnomAD
DLG1	Q12959	p.Val402Leu	rs1446080908	missense variant	-	NC_000003.12:g.197130587C>A	gnomAD
DLG1	Q12959	p.Pro405Thr	rs891630940	missense variant	-	NC_000003.12:g.197130578G>T	TOPMed,gnomAD
DLG1	Q12959	p.Thr406Ile	rs1416145145	missense variant	-	NC_000003.12:g.197130574G>A	TOPMed
DLG1	Q12959	p.Thr406Ala	rs777723301	missense variant	-	NC_000003.12:g.197130575T>C	ExAC,gnomAD
DLG1	Q12959	p.Met408Thr	rs748348666	missense variant	-	NC_000003.12:g.197130568A>G	ExAC,gnomAD
DLG1	Q12959	p.Tyr409Phe	rs1446380068	missense variant	-	NC_000003.12:g.197130565T>A	gnomAD
DLG1	Q12959	p.Met410Val	rs781424060	missense variant	-	NC_000003.12:g.197130563T>C	ExAC,gnomAD
DLG1	Q12959	p.Asp412Asn	rs1303784434	missense variant	-	NC_000003.12:g.197130557C>T	gnomAD
DLG1	Q12959	p.Gly413Ser	rs1220046530	missense variant	-	NC_000003.12:g.197130554C>T	gnomAD
DLG1	Q12959	p.Tyr414Ser	rs201830088	missense variant	-	NC_000003.12:g.197130550T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Tyr414Cys	rs201830088	missense variant	-	NC_000003.12:g.197130550T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala415Val	rs1482059233	missense variant	-	NC_000003.12:g.197130547G>A	gnomAD
DLG1	Q12959	p.Asp418Tyr	rs1204813889	missense variant	-	NC_000003.12:g.197130539C>A	gnomAD
DLG1	Q12959	p.Asp418Asn	rs1204813889	missense variant	-	NC_000003.12:g.197130539C>T	gnomAD
DLG1	Q12959	p.Ile419Thr	rs1341836500	missense variant	-	NC_000003.12:g.197130535A>G	gnomAD
DLG1	Q12959	p.Asn421Ser	rs766361825	missense variant	-	NC_000003.12:g.197130529T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser422Pro	rs758922572	missense variant	-	NC_000003.12:g.197130527A>G	ExAC,gnomAD
DLG1	Q12959	p.Ser423Tyr	rs556139731	missense variant	-	NC_000003.12:g.197119527G>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser423Ala	rs1456338992	missense variant	-	NC_000003.12:g.197119528A>C	gnomAD
DLG1	Q12959	p.Ser423Phe	rs556139731	missense variant	-	NC_000003.12:g.197119527G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Pro426Thr	rs759238456	missense variant	-	NC_000003.12:g.197119519G>T	ExAC,gnomAD
DLG1	Q12959	p.Val427Ile	rs773807571	missense variant	-	NC_000003.12:g.197119516C>T	ExAC,gnomAD
DLG1	Q12959	p.Asp428His	rs1202000734	missense variant	-	NC_000003.12:g.197119513C>G	gnomAD
DLG1	Q12959	p.Asp428Val	rs766016229	missense variant	-	NC_000003.12:g.197119512T>A	ExAC,gnomAD
DLG1	Q12959	p.Asn429Thr	rs1267124914	missense variant	-	NC_000003.12:g.197119509T>G	gnomAD
DLG1	Q12959	p.His430Tyr	rs143253568	missense variant	-	NC_000003.12:g.197119507G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser432Arg	rs201300547	missense variant	-	NC_000003.12:g.197119501T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln439Glu	rs558256686	missense variant	-	NC_000003.12:g.197119480G>C	1000Genomes
DLG1	Q12959	p.Gln439His	rs776543439	missense variant	-	NC_000003.12:g.197119478C>A	ExAC,gnomAD
DLG1	Q12959	p.Ala442Val	rs1026224891	missense variant	-	NC_000003.12:g.197119470G>A	TOPMed,gnomAD
DLG1	Q12959	p.Ala442Glu	rs1026224891	missense variant	-	NC_000003.12:g.197119470G>T	TOPMed,gnomAD
DLG1	Q12959	p.Tyr447Cys	rs1320612581	missense variant	-	NC_000003.12:g.197119455T>C	gnomAD
DLG1	Q12959	p.Ser448Thr	rs1456285584	missense variant	-	NC_000003.12:g.197119453A>T	gnomAD
DLG1	Q12959	p.Pro449Ser	rs772262678	missense variant	-	NC_000003.12:g.197119450G>A	ExAC,gnomAD
DLG1	Q12959	p.Val450Ile	rs1453482837	missense variant	-	NC_000003.12:g.197119447C>T	TOPMed
DLG1	Q12959	p.Ser451Cys	rs898564562	missense variant	-	NC_000003.12:g.197119443G>C	TOPMed,gnomAD
DLG1	Q12959	p.Val454Ile	rs745989035	missense variant	-	NC_000003.12:g.197119435C>T	ExAC,gnomAD
DLG1	Q12959	p.Gly456Arg	rs778961421	missense variant	-	NC_000003.12:g.197119429C>G	ExAC,gnomAD
DLG1	Q12959	p.Asp457Val	rs1430793106	missense variant	-	NC_000003.12:g.197119425T>A	gnomAD
DLG1	Q12959	p.Asp457Asn	rs1197270598	missense variant	-	NC_000003.12:g.197119426C>T	gnomAD
DLG1	Q12959	p.Asp458Asn	rs911189133	missense variant	-	NC_000003.12:g.197119423C>T	gnomAD
DLG1	Q12959	p.Asp458Tyr	rs911189133	missense variant	-	NC_000003.12:g.197119423C>A	gnomAD
DLG1	Q12959	p.Pro464Arg	rs772348654	missense variant	-	NC_000003.12:g.197116078G>C	ExAC,gnomAD
DLG1	Q12959	p.Arg465Gly	rs746076966	missense variant	-	NC_000003.12:g.197116076T>C	ExAC,gnomAD
DLG1	Q12959	p.Val467Leu	rs142394314	missense variant	-	NC_000003.12:g.197116070C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val468Leu	rs770848633	missense variant	-	NC_000003.12:g.197116067C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val468Ile	rs770848633	missense variant	-	NC_000003.12:g.197116067C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val468Phe	rs770848633	missense variant	-	NC_000003.12:g.197116067C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His470Pro	rs749832343	missense variant	-	NC_000003.12:g.197116060T>G	ExAC,gnomAD
DLG1	Q12959	p.Arg471His	rs778091118	missense variant	-	NC_000003.12:g.197116057C>T	ExAC,gnomAD
DLG1	Q12959	p.Thr474Arg	rs200331171	missense variant	-	NC_000003.12:g.197116048G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr474Ala	rs148803946	missense variant	-	NC_000003.12:g.197116049T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr474Met	rs200331171	missense variant	-	NC_000003.12:g.197116048G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val481Leu	rs764837654	missense variant	-	NC_000003.12:g.197116028C>A	ExAC,gnomAD
DLG1	Q12959	p.Glu484Lys	rs761182067	missense variant	-	NC_000003.12:g.197116019C>T	ExAC,gnomAD
DLG1	Q12959	p.Ile489Val	rs763982642	missense variant	-	NC_000003.12:g.197116004T>C	ExAC,gnomAD
DLG1	Q12959	p.Phe490Cys	rs1185942783	missense variant	-	NC_000003.12:g.197116000A>C	TOPMed
DLG1	Q12959	p.Ile491Thr	rs1307879103	missense variant	-	NC_000003.12:g.197115997A>G	gnomAD
DLG1	Q12959	p.Ile491Leu	rs1371485177	missense variant	-	NC_000003.12:g.197115998T>G	gnomAD
DLG1	Q12959	p.Ser492Pro	rs760602538	missense variant	-	NC_000003.12:g.197115995A>G	ExAC,gnomAD
DLG1	Q12959	p.Ile494Val	rs775322401	missense variant	-	NC_000003.12:g.197115989T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile494Met	rs1163879679	missense variant	-	NC_000003.12:g.197115987G>C	gnomAD
DLG1	Q12959	p.Gly497Arg	rs1457394848	missense variant	-	NC_000003.12:g.197115980C>T	TOPMed
DLG1	Q12959	p.Gly498Arg	rs1375333660	missense variant	-	NC_000003.12:g.197115977C>T	gnomAD
DLG1	Q12959	p.Pro499Ser	rs201908156	missense variant	-	NC_000003.12:g.197115974G>A	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ala500Val	rs774514649	missense variant	-	NC_000003.12:g.197115970G>A	ExAC,gnomAD
DLG1	Q12959	p.Glu505Lys	rs1252259293	missense variant	-	NC_000003.12:g.197115956C>T	gnomAD
DLG1	Q12959	p.Glu505Gly	rs749375973	missense variant	-	NC_000003.12:g.197115955T>C	ExAC
DLG1	Q12959	p.Arg507Lys	rs1482015206	missense variant	-	NC_000003.12:g.197115949C>T	gnomAD
DLG1	Q12959	p.Asp510Tyr	rs770267924	missense variant	-	NC_000003.12:g.197115941C>A	ExAC,gnomAD
DLG1	Q12959	p.Arg511His	rs748649814	missense variant	-	NC_000003.12:g.197115937C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg511Cys	rs1210385820	missense variant	-	NC_000003.12:g.197115938G>A	gnomAD
DLG1	Q12959	p.Ile513Thr	rs781697856	missense variant	-	NC_000003.12:g.197115931A>G	ExAC,gnomAD
DLG1	Q12959	p.Ile513Met	rs1353102906	missense variant	-	NC_000003.12:g.197115930T>C	gnomAD
DLG1	Q12959	p.Ser517Asn	rs767223219	missense variant	-	NC_000003.12:g.197104998C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser517Gly	rs1388030280	missense variant	-	NC_000003.12:g.197104999T>C	gnomAD
DLG1	Q12959	p.Asp519Asn	rs1055878288	missense variant	-	NC_000003.12:g.197104993C>T	TOPMed
DLG1	Q12959	p.Leu520Phe	rs777154455	missense variant	-	NC_000003.12:g.197104990G>A	ExAC,gnomAD
DLG1	Q12959	p.Ala523Asp	rs1231577930	missense variant	-	NC_000003.12:g.197104980G>T	TOPMed,gnomAD
DLG1	Q12959	p.Ser524Thr	rs1222231682	missense variant	-	NC_000003.12:g.197104977C>G	TOPMed
DLG1	Q12959	p.His525Arg	rs1275889907	missense variant	-	NC_000003.12:g.197104974T>C	TOPMed
DLG1	Q12959	p.Gln527Ter	rs1173000501	stop gained	-	NC_000003.12:g.197104969G>A	gnomAD
DLG1	Q12959	p.Gln527His	rs755582939	missense variant	-	NC_000003.12:g.197104967C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala529Val	rs1175538061	missense variant	-	NC_000003.12:g.197104962G>A	TOPMed
DLG1	Q12959	p.Ala530Pro	rs1249967459	missense variant	-	NC_000003.12:g.197104960C>G	TOPMed
DLG1	Q12959	p.Ala531Ser	rs1354882410	missense variant	-	NC_000003.12:g.197104957C>A	gnomAD
DLG1	Q12959	p.Asn534His	rs1424580938	missense variant	-	NC_000003.12:g.197104948T>G	TOPMed
DLG1	Q12959	p.Gln537Pro	rs937363240	missense variant	-	NC_000003.12:g.197104938T>G	TOPMed
DLG1	Q12959	p.Ala538Thr	rs767490280	missense variant	-	NC_000003.12:g.197104936C>T	ExAC,gnomAD
DLG1	Q12959	p.Ala538Val	rs754879193	missense variant	-	NC_000003.12:g.197104935G>A	ExAC,gnomAD
DLG1	Q12959	p.Ile541Met	rs766179146	missense variant	-	NC_000003.12:g.197104925A>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile541Val	rs1206363549	missense variant	-	NC_000003.12:g.197104927T>C	gnomAD
DLG1	Q12959	p.Val542Asp	rs1423689971	missense variant	-	NC_000003.12:g.197104923A>T	TOPMed
DLG1	Q12959	p.Gln544Lys	rs747276296	missense variant	-	NC_000003.12:g.197104918G>T	TOPMed,gnomAD
DLG1	Q12959	p.Tyr545Cys	rs750589067	missense variant	-	NC_000003.12:g.197104914T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg546Gln	rs751111390	missense variant	-	NC_000003.12:g.197104911C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg546Leu	rs751111390	missense variant	-	NC_000003.12:g.197104911C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg546Ter	rs765433062	stop gained	-	NC_000003.12:g.197104912G>A	ExAC,gnomAD
DLG1	Q12959	p.Pro547Ser	rs201145407	missense variant	-	NC_000003.12:g.197104909G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu548Gln	rs1397296475	missense variant	-	NC_000003.12:g.197104906C>G	TOPMed
DLG1	Q12959	p.Glu549Ala	rs1156542597	missense variant	-	NC_000003.12:g.197091026T>G	TOPMed
DLG1	Q12959	p.Glu549Gly	rs1156542597	missense variant	-	NC_000003.12:g.197091026T>C	TOPMed
DLG1	Q12959	p.Tyr550Phe	rs750165570	missense variant	-	NC_000003.12:g.197091023T>A	ExAC,gnomAD
DLG1	Q12959	p.Arg552Cys	rs577786990	missense variant	-	NC_000003.12:g.197091018G>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg552His	rs141544348	missense variant	-	NC_000003.12:g.197091017C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile557Met	rs374001902	missense variant	-	NC_000003.12:g.197091001T>C	ESP,gnomAD
DLG1	Q12959	p.Arg561Trp	rs754033983	missense variant	-	NC_000003.12:g.197090991G>A	ExAC,gnomAD
DLG1	Q12959	p.Glu562Asp	rs139789027	missense variant	-	NC_000003.12:g.197090986C>G	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Met564Thr	rs776028025	missense variant	-	NC_000003.12:g.197090981A>G	ExAC,gnomAD
DLG1	Q12959	p.Asn566Thr	rs1206373253	missense variant	-	NC_000003.12:g.197090975T>G	gnomAD
DLG1	Q12959	p.Ser567Gly	rs1482995804	missense variant	-	NC_000003.12:g.197090973T>C	TOPMed,gnomAD
DLG1	Q12959	p.Ser567Asn	rs772346988	missense variant	-	NC_000003.12:g.197090972C>T	ExAC,gnomAD
DLG1	Q12959	p.Ser573Pro	rs774665734	missense variant	-	NC_000003.12:g.197090955A>G	ExAC,gnomAD
DLG1	Q12959	p.Ser575Ala	rs1226816219	missense variant	-	NC_000003.12:g.197090949A>C	gnomAD
DLG1	Q12959	p.Arg577Ter	rs1295215276	stop gained	-	NC_000003.12:g.197090943G>A	TOPMed
DLG1	Q12959	p.Arg577Pro	rs769502806	missense variant	-	NC_000003.12:g.197090942C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg577Gln	rs769502806	missense variant	-	NC_000003.12:g.197090942C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser579Arg	rs747785538	missense variant	-	NC_000003.12:g.197090935G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser579Arg	rs747785538	missense variant	-	NC_000003.12:g.197090935G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gln580Arg	rs1276549172	missense variant	-	NC_000003.12:g.197090933T>C	TOPMed
DLG1	Q12959	p.Lys581Arg	rs780689736	missense variant	-	NC_000003.12:g.197090930T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg582Leu	rs746948471	missense variant	-	NC_000003.12:g.197090927C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg582Gln	rs746948471	missense variant	-	NC_000003.12:g.197090927C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg582Pro	rs746948471	missense variant	-	NC_000003.12:g.197090927C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser583Pro	rs974765385	missense variant	-	NC_000003.12:g.197090925A>G	gnomAD
DLG1	Q12959	p.Ser583Thr	rs974765385	missense variant	-	NC_000003.12:g.197090925A>T	gnomAD
DLG1	Q12959	p.Leu584Ile	rs1459388505	missense variant	-	NC_000003.12:g.197090922G>T	gnomAD
DLG1	Q12959	p.Val586Phe	rs534430510	missense variant	-	NC_000003.12:g.197090916C>A	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Ala588Thr	rs1248730462	missense variant	-	NC_000003.12:g.197085755C>T	gnomAD
DLG1	Q12959	p.Leu589Phe	rs774753940	missense variant	-	NC_000003.12:g.197085752G>A	ExAC,gnomAD
DLG1	Q12959	p.Tyr592Asn	rs766668748	missense variant	-	NC_000003.12:g.197085743A>T	ExAC,gnomAD
DLG1	Q12959	p.Thr595Ile	rs761454680	missense variant	-	NC_000003.12:g.197085733G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser598Arg	rs377679247	missense variant	-	NC_000003.12:g.197085723A>T	ESP,ExAC,gnomAD
DLG1	Q12959	p.Gly599Glu	rs1365297716	missense variant	-	NC_000003.12:g.197085721C>T	TOPMed
DLG1	Q12959	p.Pro601Ser	rs1451447881	missense variant	-	NC_000003.12:g.197085716G>A	TOPMed
DLG1	Q12959	p.Leu605Met	rs1320719007	missense variant	-	NC_000003.12:g.197085704G>T	gnomAD
DLG1	Q12959	p.Asn606Lys	rs774861097	missense variant	-	NC_000003.12:g.197085699G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys608Arg	rs772108454	missense variant	-	NC_000003.12:g.197085694T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Phe609Cys	rs142423292	missense variant	-	NC_000003.12:g.197085691A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile612Thr	rs374138843	missense variant	-	NC_000003.12:g.197085682A>G	ESP,ExAC,gnomAD
DLG1	Q12959	p.His614Tyr	rs1172247300	missense variant	-	NC_000003.12:g.197085677G>A	gnomAD
DLG1	Q12959	p.Ile616Val	rs1451954843	missense variant	-	NC_000003.12:g.197085671T>C	gnomAD
DLG1	Q12959	p.Ala618Gly	rs757079575	missense variant	-	NC_000003.12:g.197085664G>C	ExAC,gnomAD
DLG1	Q12959	p.Asp621Gly	rs1188066407	missense variant	-	NC_000003.12:g.197085655T>C	gnomAD
DLG1	Q12959	p.Ala626Val	rs1258478182	missense variant	-	NC_000003.12:g.197085640G>A	gnomAD
DLG1	Q12959	p.Arg627Gly	rs1319090431	missense variant	-	NC_000003.12:g.197085638T>C	TOPMed
DLG1	Q12959	p.Gln628Arg	rs1483420316	missense variant	-	NC_000003.12:g.197085634T>C	gnomAD
DLG1	Q12959	p.Val629Phe	rs756257501	missense variant	-	NC_000003.12:g.197085632C>A	ExAC,gnomAD
DLG1	Q12959	p.Thr630Pro	rs1231984587	missense variant	-	NC_000003.12:g.197085629T>G	gnomAD
DLG1	Q12959	p.Pro631Arg	rs1344303376	missense variant	-	NC_000003.12:g.197085625G>C	gnomAD
DLG1	Q12959	p.Gly633Ser	rs752886711	missense variant	-	NC_000003.12:g.197085620C>T	ExAC,gnomAD
DLG1	Q12959	p.Ser635Arg	rs957670885	missense variant	-	NC_000003.12:g.197085612G>C	gnomAD
DLG1	Q12959	p.Asp636Gly	rs1047907729	missense variant	-	NC_000003.12:g.197085610T>C	TOPMed
DLG1	Q12959	p.Asp636Tyr	rs755522594	missense variant	-	NC_000003.12:g.197085611C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp636Asn	rs755522594	missense variant	-	NC_000003.12:g.197085611C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu637Gly	rs1251193672	missense variant	-	NC_000003.12:g.197085607T>C	TOPMed
DLG1	Q12959	p.Val638Ile	rs751993034	missense variant	-	NC_000003.12:g.197085605C>T	ExAC,gnomAD
DLG1	Q12959	p.Val638Ala	rs1401942383	missense variant	-	NC_000003.12:g.197085604A>G	gnomAD
DLG1	Q12959	p.Gly639Arg	rs369412843	missense variant	-	NC_000003.12:g.197085602C>G	ESP,gnomAD
DLG1	Q12959	p.Gly639Arg	rs369412843	missense variant	-	NC_000003.12:g.197085602C>T	ESP,gnomAD
DLG1	Q12959	p.Ile641Val	rs763252926	missense variant	-	NC_000003.12:g.197085596T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile641Leu	rs763252926	missense variant	-	NC_000003.12:g.197085596T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys644Ile	rs763877437	missense variant	-	NC_000003.12:g.197085586T>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg645Pro	rs1188424272	missense variant	-	NC_000003.12:g.197085583C>G	gnomAD
DLG1	Q12959	p.Arg645Cys	rs1370279637	missense variant	-	NC_000003.12:g.197085584G>A	gnomAD
DLG1	Q12959	p.Arg646Gly	rs760234405	missense variant	-	NC_000003.12:g.197085581T>C	ExAC,gnomAD
DLG1	Q12959	p.Arg652Gln	rs200616174	missense variant	-	NC_000003.12:g.197081100C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg654Gly	rs767076677	missense variant	-	NC_000003.12:g.197081095G>C	ExAC,gnomAD
DLG1	Q12959	p.Arg654Gln	rs560145346	missense variant	-	NC_000003.12:g.197081094C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn661Ser	rs983465160	missense variant	-	NC_000003.12:g.197081073T>C	TOPMed
DLG1	Q12959	p.Ser662Cys	rs773970168	missense variant	-	NC_000003.12:g.197081070G>C	ExAC,gnomAD
DLG1	Q12959	p.Thr664Met	rs945330889	missense variant	-	NC_000003.12:g.197081064G>A	TOPMed,gnomAD
DLG1	Q12959	p.Arg665Thr	rs775676371	missense variant	-	NC_000003.12:g.197081061C>G	gnomAD
DLG1	Q12959	p.Asp666Gly	rs952945407	missense variant	-	NC_000003.12:g.197081058T>C	TOPMed,gnomAD
DLG1	Q12959	p.Asp666Asn	rs1426738053	missense variant	-	NC_000003.12:g.197081059C>T	TOPMed
DLG1	Q12959	p.Asp666Glu	rs35430440	missense variant	-	NC_000003.12:g.197081057A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Glu669Gly	rs200527966	missense variant	-	NC_000003.12:g.197075869T>C	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Asp672Asn	rs774486492	missense variant	-	NC_000003.12:g.197075861C>T	ExAC,gnomAD
DLG1	Q12959	p.Met674Thr	rs201276458	missense variant	-	NC_000003.12:g.197075854A>G	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser676Leu	rs1322528178	missense variant	-	NC_000003.12:g.197075848G>A	TOPMed
DLG1	Q12959	p.Gly678Asp	rs1209314980	missense variant	-	NC_000003.12:g.197075842C>T	TOPMed
DLG1	Q12959	p.Lys680Asn	rs759793588	missense variant	-	NC_000003.12:g.197069259C>G	ExAC,gnomAD
DLG1	Q12959	p.Thr683Ile	rs774306039	missense variant	-	NC_000003.12:g.197069251G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Phe	rs749786841	missense variant	-	NC_000003.12:g.197069248G>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Thr	rs770973751	missense variant	-	NC_000003.12:g.197069249A>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Cys	rs749786841	missense variant	-	NC_000003.12:g.197069248G>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser684Tyr	rs749786841	missense variant	-	NC_000003.12:g.197069248G>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala686Thr	rs914508596	missense variant	-	NC_000003.12:g.197069243C>T	gnomAD
DLG1	Q12959	p.Asp688Asn	rs773802586	missense variant	-	NC_000003.12:g.197069237C>T	ExAC,gnomAD
DLG1	Q12959	p.Asp688Gly	rs770401999	missense variant	-	NC_000003.12:g.197069236T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser689Thr	rs1204784700	missense variant	-	NC_000003.12:g.197069233C>G	gnomAD
DLG1	Q12959	p.Arg694Cys	rs74674649	missense variant	-	NC_000003.12:g.197069219G>A	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Gly695Asp	rs766663727	missense variant	-	NC_000003.12:g.197066751C>T	ExAC,gnomAD
DLG1	Q12959	p.Glu698Asp	rs763262067	missense variant	-	NC_000003.12:g.197066741T>G	ExAC
DLG1	Q12959	p.Tyr699His	rs750587478	missense variant	-	NC_000003.12:g.197066740A>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val700Ile	rs556519100	missense variant	-	NC_000003.12:g.197066737C>T	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ser702Phe	rs777149136	missense variant	-	NC_000003.12:g.197066730G>A	ExAC,gnomAD
DLG1	Q12959	p.Ser702Pro	rs1162588138	missense variant	-	NC_000003.12:g.197066731A>G	TOPMed,gnomAD
DLG1	Q12959	p.Tyr703Asn	rs769021454	missense variant	-	NC_000003.12:g.197066728A>T	ExAC,gnomAD
DLG1	Q12959	p.Pro705Ser	rs1213912687	missense variant	-	NC_000003.12:g.197066722G>A	gnomAD
DLG1	Q12959	p.Tyr713Cys	rs1346596857	missense variant	-	NC_000003.12:g.197065803T>C	TOPMed
DLG1	Q12959	p.Thr714Ile	rs767805250	missense variant	-	NC_000003.12:g.197065800G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg715Ter	rs1299861705	stop gained	-	NC_000003.12:g.197065798G>A	TOPMed
DLG1	Q12959	p.Arg715Gln	rs537841426	missense variant	-	NC_000003.12:g.197065797C>T	1000Genomes,ExAC,gnomAD
DLG1	Q12959	p.Val717Leu	rs148283553	missense variant	-	NC_000003.12:g.197065792C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val717Ala	rs997668270	missense variant	-	NC_000003.12:g.197065791A>G	TOPMed,gnomAD
DLG1	Q12959	p.Ile719Val	rs747730053	missense variant	-	NC_000003.12:g.197065786T>C	ExAC,gnomAD
DLG1	Q12959	p.Met723Thr	rs1189203679	missense variant	-	NC_000003.12:g.197065773A>G	TOPMed
DLG1	Q12959	p.Met723Val	rs1317434987	missense variant	-	NC_000003.12:g.197065774T>C	TOPMed,gnomAD
DLG1	Q12959	p.Asp725Glu	rs1417747792	missense variant	-	NC_000003.12:g.197065766G>C	gnomAD
DLG1	Q12959	p.Arg726Ser	rs1377150302	missense variant	-	NC_000003.12:g.197065763C>A	gnomAD
DLG1	Q12959	p.Arg726Lys	rs956412267	missense variant	-	NC_000003.12:g.197065764C>T	TOPMed,gnomAD
DLG1	Q12959	p.Asp729His	rs1163188867	missense variant	-	NC_000003.12:g.197065756C>G	gnomAD
DLG1	Q12959	p.Leu731Trp	rs1239607317	missense variant	-	NC_000003.12:g.197065749A>C	gnomAD
DLG1	Q12959	p.Leu731Val	rs1174213132	missense variant	-	NC_000003.12:g.197065750A>C	TOPMed,gnomAD
DLG1	Q12959	p.Leu731Phe	rs776000134	missense variant	-	NC_000003.12:g.197065748C>G	ExAC,gnomAD
DLG1	Q12959	p.Phe735Leu	rs1180430022	missense variant	-	NC_000003.12:g.197065736A>T	TOPMed
DLG1	Q12959	p.Pro736Ala	rs1392733077	missense variant	-	NC_000003.12:g.197065735G>C	gnomAD
DLG1	Q12959	p.Pro736His	rs768695952	missense variant	-	NC_000003.12:g.197065734G>T	ExAC,gnomAD
DLG1	Q12959	p.Lys738Thr	rs1180060626	missense variant	-	NC_000003.12:g.197065728T>G	gnomAD
DLG1	Q12959	p.Ser741Thr	rs1191537594	missense variant	-	NC_000003.12:g.197065720A>T	gnomAD
DLG1	Q12959	p.His745Tyr	rs746862777	missense variant	-	NC_000003.12:g.197065708G>A	ExAC,gnomAD
DLG1	Q12959	p.Arg751Ter	rs1390220134	stop gained	-	NC_000003.12:g.197065431G>A	-
DLG1	Q12959	p.Tyr753His	rs1293745338	missense variant	-	NC_000003.12:g.197065425A>G	gnomAD
DLG1	Q12959	p.Arg758Gly	rs1200127049	missense variant	-	NC_000003.12:g.197065410T>C	TOPMed,gnomAD
DLG1	Q12959	p.Asp759Val	rs749406565	missense variant	-	NC_000003.12:g.197065406T>A	ExAC,gnomAD
DLG1	Q12959	p.Asp759Asn	rs556487482	missense variant	-	NC_000003.12:g.197065407C>T	gnomAD
DLG1	Q12959	p.Val763Leu	rs756095854	missense variant	-	NC_000003.12:g.197065395C>G	ExAC,gnomAD
DLG1	Q12959	p.Arg766Gly	rs1353418226	missense variant	-	NC_000003.12:g.197065386T>C	gnomAD
DLG1	Q12959	p.Asp772Asn	rs752749827	missense variant	-	NC_000003.12:g.197065368C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile773Val	rs1462741886	missense variant	-	NC_000003.12:g.197065365T>C	gnomAD
DLG1	Q12959	p.Gln774Arg	rs755469316	missense variant	-	NC_000003.12:g.197065361T>C	ExAC,gnomAD
DLG1	Q12959	p.Gln774Glu	rs1164704741	missense variant	-	NC_000003.12:g.197065362G>C	TOPMed,gnomAD
DLG1	Q12959	p.His776Arg	rs1410733645	missense variant	-	NC_000003.12:g.197065355T>C	gnomAD
DLG1	Q12959	p.Lys777Glu	rs751977122	missense variant	-	NC_000003.12:g.197065353T>C	ExAC,gnomAD
DLG1	Q12959	p.Ile779Thr	rs761529133	missense variant	-	NC_000003.12:g.197065346A>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile779Leu	rs375924494	missense variant	-	NC_000003.12:g.197065347T>G	ESP,ExAC,gnomAD
DLG1	Q12959	p.Tyr784Cys	rs1215777777	missense variant	-	NC_000003.12:g.197065331T>C	gnomAD
DLG1	Q12959	p.Asn786Ser	rs117248178	missense variant	-	NC_000003.12:g.197065325T>C	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asn786His	rs1469114069	missense variant	-	NC_000003.12:g.197065326T>G	gnomAD
DLG1	Q12959	p.Asn786Ile	rs117248178	missense variant	-	NC_000003.12:g.197065325T>A	1000Genomes,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His787Leu	rs760144420	missense variant	-	NC_000003.12:g.197065322T>A	ExAC,gnomAD
DLG1	Q12959	p.Gly790Glu	rs371009210	missense variant	-	NC_000003.12:g.197065313C>T	ESP,TOPMed
DLG1	Q12959	p.Ser792Arg	rs772194713	missense variant	-	NC_000003.12:g.197065306A>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Val793Leu	rs759493254	missense variant	-	NC_000003.12:g.197065305C>G	ExAC,gnomAD
DLG1	Q12959	p.Gln794His	rs774295386	missense variant	-	NC_000003.12:g.197065300C>A	ExAC,gnomAD
DLG1	Q12959	p.Ser795Phe	rs770595172	missense variant	-	NC_000003.12:g.197065298G>A	ExAC,gnomAD
DLG1	Q12959	p.Val796Leu	rs994269079	missense variant	-	NC_000003.12:g.197065296C>G	TOPMed,gnomAD
DLG1	Q12959	p.Val796Ile	rs994269079	missense variant	-	NC_000003.12:g.197065296C>T	TOPMed,gnomAD
DLG1	Q12959	p.Arg797Gly	rs749544930	missense variant	-	NC_000003.12:g.197065293G>C	ExAC,gnomAD
DLG1	Q12959	p.Arg797Gln	rs78190191	missense variant	-	NC_000003.12:g.197065292C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.His805Tyr	rs1394624305	missense variant	-	NC_000003.12:g.197059992G>A	gnomAD
DLG1	Q12959	p.Ala814Ser	rs748311393	missense variant	-	NC_000003.12:g.197059965C>A	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile815Met	rs768680905	missense variant	-	NC_000003.12:g.197059960T>C	ExAC,gnomAD
DLG1	Q12959	p.Gln819Arg	rs1487850364	missense variant	-	NC_000003.12:g.197059949T>C	gnomAD
DLG1	Q12959	p.Leu823Val	rs747535008	missense variant	-	NC_000003.12:g.197059938G>C	ExAC,gnomAD
DLG1	Q12959	p.Pro825Ala	rs746276285	missense variant	-	NC_000003.12:g.197059932G>C	ExAC,gnomAD
DLG1	Q12959	p.Ile826Leu	rs779280165	missense variant	-	NC_000003.12:g.197059929T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile826Val	rs779280165	missense variant	-	NC_000003.12:g.197059929T>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ile828Leu	rs769701427	missense variant	-	NC_000003.12:g.197059923T>G	ExAC,gnomAD
DLG1	Q12959	p.Ile828Val	rs769701427	missense variant	-	NC_000003.12:g.197059923T>C	ExAC,gnomAD
DLG1	Q12959	p.Ser834Phe	rs752360157	missense variant	-	NC_000003.12:g.197059904G>A	ExAC,gnomAD
DLG1	Q12959	p.Met835Ile	rs377083623	missense variant	-	NC_000003.12:g.197059900C>T	ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Met835Val	rs1338921032	missense variant	-	NC_000003.12:g.197059902T>C	gnomAD
DLG1	Q12959	p.Asn837Ser	rs775565630	missense variant	-	NC_000003.12:g.197059895T>C	gnomAD
DLG1	Q12959	p.Ile838Asn	rs1374901932	missense variant	-	NC_000003.12:g.197059892A>T	TOPMed,gnomAD
DLG1	Q12959	p.Met839Arg	rs754581777	missense variant	-	NC_000003.12:g.197059889A>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Met839Thr	rs754581777	missense variant	-	NC_000003.12:g.197059889A>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Met841Val	rs1456199282	missense variant	-	NC_000003.12:g.197051664T>C	gnomAD
DLG1	Q12959	p.Met841Ile	rs754670124	missense variant	-	NC_000003.12:g.197051662C>T	ExAC,gnomAD
DLG1	Q12959	p.Arg844His	rs779555154	missense variant	-	NC_000003.12:g.197051654C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Arg844Cys	rs751084251	missense variant	-	NC_000003.12:g.197051655G>A	ExAC,gnomAD
DLG1	Q12959	p.Gln849Ter	rs1282868964	stop gained	-	NC_000003.12:g.197051640G>A	gnomAD
DLG1	Q12959	p.Thr853Ala	rs758272031	missense variant	-	NC_000003.12:g.197051628T>C	ExAC,gnomAD
DLG1	Q12959	p.Phe854Tyr	rs1354149750	missense variant	-	NC_000003.12:g.197051624A>T	gnomAD
DLG1	Q12959	p.Glu855Gly	rs1306451100	missense variant	-	NC_000003.12:g.197051621T>C	gnomAD
DLG1	Q12959	p.Arg856Thr	rs750334615	missense variant	-	NC_000003.12:g.197051618C>G	ExAC,gnomAD
DLG1	Q12959	p.Met858Val	rs368819214	missense variant	-	NC_000003.12:g.197051613T>C	ESP,ExAC,gnomAD
DLG1	Q12959	p.Lys859Thr	rs1311102081	missense variant	-	NC_000003.12:g.197051609T>G	gnomAD
DLG1	Q12959	p.Glu861Asp	rs1326854738	missense variant	-	NC_000003.12:g.197051602T>G	gnomAD
DLG1	Q12959	p.Glu866Gln	rs1461717180	missense variant	-	NC_000003.12:g.197051589C>G	gnomAD
DLG1	Q12959	p.His867Asp	rs1389756156	missense variant	-	NC_000003.12:g.197051586G>C	gnomAD
DLG1	Q12959	p.Ile871Val	rs779459646	missense variant	-	NC_000003.12:g.197044727T>C	ExAC,gnomAD
DLG1	Q12959	p.Val872Ala	rs1478761741	missense variant	-	NC_000003.12:g.197044723A>G	gnomAD
DLG1	Q12959	p.Gln873Arg	rs1283231928	missense variant	-	NC_000003.12:g.197044720T>C	TOPMed
DLG1	Q12959	p.Asp875His	rs778889719	missense variant	-	NC_000003.12:g.197044715C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp875Asn	rs778889719	missense variant	-	NC_000003.12:g.197044715C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Thr876Met	rs765371853	missense variant	-	NC_000003.12:g.197044711G>A	TOPMed,gnomAD
DLG1	Q12959	p.Leu877Arg	rs763811548	missense variant	-	NC_000003.12:g.197044708A>C	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Asp879Tyr	rs368567166	missense variant	-	NC_000003.12:g.197044703C>A	ExAC,gnomAD
DLG1	Q12959	p.Asp879Asn	rs368567166	missense variant	-	NC_000003.12:g.197044703C>T	ExAC,gnomAD
DLG1	Q12959	p.Asn882Tyr	rs752917348	missense variant	-	NC_000003.12:g.197044694T>A	ExAC,gnomAD
DLG1	Q12959	p.Gln886Arg	rs1180633741	missense variant	-	NC_000003.12:g.197044681T>C	TOPMed
DLG1	Q12959	p.Gln891Lys	rs1350141676	missense variant	-	NC_000003.12:g.197044667G>T	gnomAD
DLG1	Q12959	p.Gln891Pro	rs776026149	missense variant	-	NC_000003.12:g.197044666T>G	TOPMed,gnomAD
DLG1	Q12959	p.Pro899Leu	rs34492126	missense variant	-	NC_000003.12:g.197044642G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Ala900Thr	rs770242553	missense variant	-	NC_000003.12:g.197044640C>T	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys901Asn	rs746662289	missense variant	-	NC_000003.12:g.197044635T>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Lys903Asn	rs760593370	missense variant	-	NC_000003.12:g.197044629C>G	ExAC,TOPMed,gnomAD
DLG1	Q12959	p.Leu904Pro	rs1334292456	missense variant	-	NC_000003.12:g.197044627A>G	gnomAD
NPRL3	Q12980	p.Arg2Pro	rs752487586	missense variant	-	NC_000016.10:g.138263C>G	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg2Trp	rs866916266	missense variant	-	NC_000016.10:g.138264G>A	gnomAD
NPRL3	Q12980	p.Arg2Gln	rs752487586	missense variant	-	NC_000016.10:g.138263C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asp3Ala	rs1429725424	missense variant	-	NC_000016.10:g.138260T>G	TOPMed
NPRL3	Q12980	p.Asp3Glu	rs1478358968	missense variant	-	NC_000016.10:g.138259G>C	gnomAD
NPRL3	Q12980	p.Asn4Ser	rs759212295	missense variant	-	NC_000016.10:g.138257T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asn4Thr	rs759212295	missense variant	-	NC_000016.10:g.138257T>G	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Thr5Ile	rs776554504	missense variant	-	NC_000016.10:g.138254G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro7His	rs770799124	missense variant	-	NC_000016.10:g.138248G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro7Leu	rs770799124	missense variant	-	NC_000016.10:g.138248G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser9Gly	rs760236969	missense variant	-	NC_000016.10:g.138243T>C	ExAC,gnomAD
NPRL3	Q12980	p.Val10Met	rs1256050109	missense variant	-	NC_000016.10:g.138240C>T	gnomAD
NPRL3	Q12980	p.Val10Leu	rs1256050109	missense variant	-	NC_000016.10:g.138240C>G	gnomAD
NPRL3	Q12980	p.Ser14Asn	rs771660247	missense variant	-	NC_000016.10:g.138227C>T	ExAC,gnomAD
NPRL3	Q12980	p.Tyr26Phe	rs574961287	missense variant	-	NC_000016.10:g.138191T>A	gnomAD
NPRL3	Q12980	p.Pro27Leu	rs1303500452	missense variant	-	NC_000016.10:g.138188G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Pro27Ser	rs778379426	missense variant	-	NC_000016.10:g.138189G>A	ExAC,gnomAD
NPRL3	Q12980	p.Pro27His	rs1303500452	missense variant	-	NC_000016.10:g.138188G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Gln29Lys	rs1021394339	missense variant	-	NC_000016.10:g.138183G>T	TOPMed
NPRL3	Q12980	p.Ser31Asn	rs780716774	missense variant	-	NC_000016.10:g.138176C>T	ExAC,gnomAD
NPRL3	Q12980	p.Gln32Ter	RCV000705783	nonsense	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.138174G>A	ClinVar
NPRL3	Q12980	p.Glu33Gly	rs781311988	missense variant	-	NC_000016.10:g.138170T>C	ExAC,gnomAD
NPRL3	Q12980	p.Glu33Lys	rs745987603	missense variant	-	NC_000016.10:g.138171C>T	ExAC,gnomAD
NPRL3	Q12980	p.His34Tyr	rs1183041025	missense variant	-	NC_000016.10:g.138168G>A	gnomAD
NPRL3	Q12980	p.Pro35Ala	rs1163115652	missense variant	-	NC_000016.10:g.138165G>C	gnomAD
NPRL3	Q12980	p.Pro35Leu	rs1262389619	missense variant	-	NC_000016.10:g.138164G>A	gnomAD
NPRL3	Q12980	p.Ala36Thr	rs1418799391	missense variant	-	NC_000016.10:g.138162C>T	gnomAD
NPRL3	Q12980	p.Ala36Val	rs751842451	missense variant	-	NC_000016.10:g.138161G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ser37Phe	rs1249393486	missense variant	-	NC_000016.10:g.138158G>A	gnomAD
NPRL3	Q12980	p.Gln38Leu	COSM5148625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.138155T>A	NCI-TCGA Cosmic
NPRL3	Q12980	p.Ser40Asn	rs1277893899	missense variant	-	NC_000016.10:g.130591C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Lys41Glu	rs1299719512	missense variant	-	NC_000016.10:g.130589T>C	TOPMed
NPRL3	Q12980	p.Pro42Leu	rs762676113	missense variant	-	NC_000016.10:g.130585G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43Pro	rs376476299	missense variant	-	NC_000016.10:g.130582C>G	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43Leu	rs376476299	missense variant	-	NC_000016.10:g.130582C>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43Cys	rs770318147	missense variant	-	NC_000016.10:g.130583G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43His	rs376476299	missense variant	-	NC_000016.10:g.130582C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43Ser	rs770318147	missense variant	-	NC_000016.10:g.130583G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser44Gly	rs1440203625	missense variant	-	NC_000016.10:g.130580T>C	TOPMed,gnomAD
NPRL3	Q12980	p.Tyr46Ter	RCV000653293	nonsense	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.130572G>C	ClinVar
NPRL3	Q12980	p.Tyr46His	rs1364502296	missense variant	-	NC_000016.10:g.130574A>G	gnomAD
NPRL3	Q12980	p.Tyr46Ter	rs1021001959	stop gained	-	NC_000016.10:g.130572G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ala47Thr	rs1401901852	missense variant	-	NC_000016.10:g.130571C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Ala47Ser	rs1401901852	missense variant	-	NC_000016.10:g.130571C>A	TOPMed,gnomAD
NPRL3	Q12980	p.Asn50Lys	rs373761767	missense variant	-	NC_000016.10:g.130560G>C	ESP,TOPMed,gnomAD
NPRL3	Q12980	p.Asn50Lys	RCV000658728	missense variant	-	NC_000016.10:g.130560G>C	ClinVar
NPRL3	Q12980	p.Thr51Met	rs777208794	missense variant	-	NC_000016.10:g.130558G>A	ExAC,gnomAD
NPRL3	Q12980	p.Gly52Asp	rs1180748912	missense variant	-	NC_000016.10:g.130555C>T	TOPMed
NPRL3	Q12980	p.Asp53Asn	rs1268399202	missense variant	-	NC_000016.10:g.130553C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Ala55Gly	rs1217583836	missense variant	-	NC_000016.10:g.130546G>C	gnomAD
NPRL3	Q12980	p.Asp56Val	rs1418498571	missense variant	-	NC_000016.10:g.130543T>A	gnomAD
NPRL3	Q12980	p.Asp56Asn	rs777683049	missense variant	-	NC_000016.10:g.130544C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu57Lys	rs907712162	missense variant	-	NC_000016.10:g.130541C>T	TOPMed
NPRL3	Q12980	p.Gln58Pro	rs1204695345	missense variant	-	NC_000016.10:g.130537T>G	gnomAD
NPRL3	Q12980	p.Asp59Glu	rs1048069050	missense variant	-	NC_000016.10:g.130533G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Asp59Tyr	rs1346241271	missense variant	-	NC_000016.10:g.130535C>A	gnomAD
NPRL3	Q12980	p.Gly60Ser	rs1222017166	missense variant	-	NC_000016.10:g.130532C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Asp61Asn	rs748391280	missense variant	-	NC_000016.10:g.130529C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asp61Val	rs779065782	missense variant	-	NC_000016.10:g.130528T>A	ExAC,gnomAD
NPRL3	Q12980	p.Ser65Ter	RCV000579212	nonsense	-	NC_000016.10:g.119250G>C	ClinVar
NPRL3	Q12980	p.Ser65Ter	rs1555444207	stop gained	-	NC_000016.10:g.119250G>C	-
NPRL3	Q12980	p.Ile68Thr	rs766673462	missense variant	-	NC_000016.10:g.119241A>G	ExAC,gnomAD
NPRL3	Q12980	p.Thr71Ser	rs1345246971	missense variant	-	NC_000016.10:g.119233T>A	gnomAD
NPRL3	Q12980	p.Ile72Val	rs1343443394	missense variant	-	NC_000016.10:g.119230T>C	gnomAD
NPRL3	Q12980	p.Gly81Ser	rs1362999615	missense variant	-	NC_000016.10:g.119203C>T	gnomAD
NPRL3	Q12980	p.Gln82Pro	rs1178301849	missense variant	-	NC_000016.10:g.119199T>G	TOPMed
NPRL3	Q12980	p.Phe84Cys	rs560167568	missense variant	-	NC_000016.10:g.119193A>C	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu86Met	rs1451736465	missense variant	-	NC_000016.10:g.119188G>T	gnomAD
NPRL3	Q12980	p.Lys87Asn	rs1345062988	missense variant	-	NC_000016.10:g.119183C>A	TOPMed,gnomAD
NPRL3	Q12980	p.Asn90Ser	rs551576449	missense variant	-	NC_000016.10:g.119175T>C	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg92Gln	rs367729589	missense variant	-	NC_000016.10:g.119169C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg92Gln	rs367729589	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.119169C>T	UniProt,dbSNP
NPRL3	Q12980	p.Arg92Gln	VAR_077126	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.119169C>T	UniProt
NPRL3	Q12980	p.Arg92Gly	rs1199226176	missense variant	-	NC_000016.10:g.119170G>C	gnomAD
NPRL3	Q12980	p.Arg92Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.119170G>A	NCI-TCGA
NPRL3	Q12980	p.Val94Phe	rs1184200053	missense variant	-	NC_000016.10:g.119164C>A	TOPMed,gnomAD
NPRL3	Q12980	p.Val94Ile	rs1184200053	missense variant	-	NC_000016.10:g.119164C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Val94Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.119163A>G	NCI-TCGA
NPRL3	Q12980	p.His96Tyr	rs374486402	missense variant	-	NC_000016.10:g.119158G>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro97Ala	rs775744150	missense variant	-	NC_000016.10:g.119155G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro97Leu	rs924048126	missense variant	-	NC_000016.10:g.119154G>A	gnomAD
NPRL3	Q12980	p.Pro97Arg	rs924048126	missense variant	-	NC_000016.10:g.119154G>C	gnomAD
NPRL3	Q12980	p.His102Tyr	rs1262273277	missense variant	-	NC_000016.10:g.119140G>A	gnomAD
NPRL3	Q12980	p.Gln106Lys	rs1215657187	missense variant	-	NC_000016.10:g.119128G>T	TOPMed
NPRL3	Q12980	p.Ile107Val	rs1233680517	missense variant	-	NC_000016.10:g.117375T>C	gnomAD
NPRL3	Q12980	p.Ser108Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.117371G>A	NCI-TCGA
NPRL3	Q12980	p.Lys109Arg	rs1323282813	missense variant	-	NC_000016.10:g.117368T>C	gnomAD
NPRL3	Q12980	p.Asp111Glu	rs770047002	missense variant	-	NC_000016.10:g.117361A>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asp111His	COSM3402111	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.117363C>G	NCI-TCGA Cosmic
NPRL3	Q12980	p.Pro112Leu	rs373215354	missense variant	-	NC_000016.10:g.117359G>A	ESP,TOPMed
NPRL3	Q12980	p.Pro112Ala	rs1334111797	missense variant	-	NC_000016.10:g.117360G>C	gnomAD
NPRL3	Q12980	p.Pro114Leu	rs979345384	missense variant	-	NC_000016.10:g.117353G>A	TOPMed
NPRL3	Q12980	p.Pro114Thr	COSM4058659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.117354G>T	NCI-TCGA Cosmic
NPRL3	Q12980	p.Ala118Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.117341G>T	NCI-TCGA
NPRL3	Q12980	p.Leu123Phe	rs1245875822	missense variant	-	NC_000016.10:g.117327G>A	TOPMed
NPRL3	Q12980	p.Leu123Ile	COSM262459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.117327G>T	NCI-TCGA Cosmic
NPRL3	Q12980	p.Phe124Leu	rs772186484	missense variant	-	NC_000016.10:g.117324A>G	ExAC,gnomAD
NPRL3	Q12980	p.Phe124Ser	rs545827828	missense variant	-	NC_000016.10:g.117323A>G	1000Genomes,ExAC,gnomAD
NPRL3	Q12980	p.Phe124LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.117322A>-	NCI-TCGA
NPRL3	Q12980	p.Val126Ala	rs1024335545	missense variant	-	NC_000016.10:g.117317A>G	TOPMed
NPRL3	Q12980	p.Val126Met	rs575270246	missense variant	-	NC_000016.10:g.117318C>T	1000Genomes,ExAC,gnomAD
NPRL3	Q12980	p.Val127Leu	rs1164870312	missense variant	-	NC_000016.10:g.117315C>A	gnomAD
NPRL3	Q12980	p.Phe128Ser	rs748774765	missense variant	-	NC_000016.10:g.117311A>G	ExAC,gnomAD
NPRL3	Q12980	p.Phe128Leu	rs779627025	missense variant	-	NC_000016.10:g.117310A>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala129Val	rs755783739	missense variant	-	NC_000016.10:g.117308G>A	ExAC,gnomAD
NPRL3	Q12980	p.Leu130Val	rs1195082438	missense variant	-	NC_000016.10:g.117306G>C	gnomAD
NPRL3	Q12980	p.Leu130Pro	rs1439082132	missense variant	-	NC_000016.10:g.117305A>G	TOPMed
NPRL3	Q12980	p.Asn133Ser	rs768624471	missense variant	-	NC_000016.10:g.112771T>C	ExAC,gnomAD
NPRL3	Q12980	p.Ala134Thr	rs779581743	missense variant	-	NC_000016.10:g.112769C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala134Gly	rs1205797247	missense variant	-	NC_000016.10:g.112768G>C	TOPMed
NPRL3	Q12980	p.Pro136Thr	rs769482319	missense variant	-	NC_000016.10:g.112763G>T	ExAC,gnomAD
NPRL3	Q12980	p.Pro136Leu	rs547462000	missense variant	-	NC_000016.10:g.112762G>A	ExAC,gnomAD
NPRL3	Q12980	p.Pro136Gln	rs547462000	missense variant	-	NC_000016.10:g.112762G>T	ExAC,gnomAD
NPRL3	Q12980	p.Val138Leu	rs1249139385	missense variant	-	NC_000016.10:g.112757C>G	gnomAD
NPRL3	Q12980	p.Leu142Ter	RCV000700825	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.112746_112749del	ClinVar
NPRL3	Q12980	p.His143Arg	rs959374963	missense variant	-	NC_000016.10:g.112741T>C	TOPMed,gnomAD
NPRL3	Q12980	p.His143Tyr	rs764927474	missense variant	-	NC_000016.10:g.112742G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ser146Ala	rs1429050749	missense variant	-	NC_000016.10:g.112733A>C	TOPMed
NPRL3	Q12980	p.Ser146Ter	RCV000627649	frameshift	-	NC_000016.10:g.112734del	ClinVar
NPRL3	Q12980	p.Arg147Cys	rs202129021	missense variant	-	NC_000016.10:g.112730G>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg147His	rs1470285968	missense variant	-	NC_000016.10:g.112729C>T	gnomAD
NPRL3	Q12980	p.Arg148Cys	rs201069648	missense variant	-	NC_000016.10:g.112727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg148His	rs1470708324	missense variant	-	NC_000016.10:g.112726C>T	TOPMed
NPRL3	Q12980	p.Ala150Thr	rs766649807	missense variant	-	NC_000016.10:g.112721C>T	ExAC,gnomAD
NPRL3	Q12980	p.Val152Met	rs539649449	missense variant	-	NC_000016.10:g.112715C>T	1000Genomes,TOPMed,gnomAD
NPRL3	Q12980	p.Glu156Lys	rs374060440	missense variant	-	NC_000016.10:g.112703C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu156Gly	rs1324954418	missense variant	-	NC_000016.10:g.112702T>C	gnomAD
NPRL3	Q12980	p.Glu157Gly	rs762922931	missense variant	-	NC_000016.10:g.112699T>C	ExAC,gnomAD
NPRL3	Q12980	p.Arg158His	rs1215682749	missense variant	-	NC_000016.10:g.112696C>T	TOPMed
NPRL3	Q12980	p.Arg158Cys	rs775239262	missense variant	-	NC_000016.10:g.112697G>A	ExAC,gnomAD
NPRL3	Q12980	p.Arg158Ser	rs775239262	missense variant	-	NC_000016.10:g.112697G>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg159Cys	rs769300436	missense variant	-	NC_000016.10:g.112694G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg159His	rs370299128	missense variant	-	NC_000016.10:g.112693C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Cys160Tyr	rs1393822175	missense variant	-	NC_000016.10:g.112690C>T	gnomAD
NPRL3	Q12980	p.Arg165Gln	rs770570210	missense variant	-	NC_000016.10:g.112675C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg165Gly	rs1324142773	missense variant	-	NC_000016.10:g.112676G>C	gnomAD
NPRL3	Q12980	p.Ala167Thr	rs569119130	missense variant	-	NC_000016.10:g.112670C>T	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala167Val	rs1408296201	missense variant	-	NC_000016.10:g.112669G>A	gnomAD
NPRL3	Q12980	p.Ala172Val	rs778177582	missense variant	-	NC_000016.10:g.112654G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu173Phe	rs753280871	missense variant	-	NC_000016.10:g.112652G>A	ExAC,gnomAD
NPRL3	Q12980	p.Asp175Asn	COSM4390100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.112646C>T	NCI-TCGA Cosmic
NPRL3	Q12980	p.Ala179Thr	rs755120736	missense variant	-	NC_000016.10:g.112634C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala181Val	rs1452724103	missense variant	-	NC_000016.10:g.112627G>A	gnomAD
NPRL3	Q12980	p.Ala181Thr	rs766774400	missense variant	-	NC_000016.10:g.112628C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly183Ala	COSM3817298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.110606C>G	NCI-TCGA Cosmic
NPRL3	Q12980	p.Asn184His	rs73478320	missense variant	-	NC_000016.10:g.110604T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asn184His	RCV000525689	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.110604T>G	ClinVar
NPRL3	Q12980	p.Asn184Ser	rs1305766338	missense variant	-	NC_000016.10:g.110603T>C	gnomAD
NPRL3	Q12980	p.Glu185Gln	rs1188792699	missense variant	-	NC_000016.10:g.110601C>G	TOPMed
NPRL3	Q12980	p.Pro187Leu	rs1423126301	missense variant	-	NC_000016.10:g.110594G>A	TOPMed
NPRL3	Q12980	p.Gln188Arg	rs191687929	missense variant	-	NC_000016.10:g.110591T>C	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gln188Pro	rs191687929	missense variant	-	NC_000016.10:g.110591T>G	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro190Leu	rs530516163	missense variant	-	NC_000016.10:g.110585G>A	1000Genomes,ExAC,gnomAD
NPRL3	Q12980	p.Phe191Cys	rs752486246	missense variant	-	NC_000016.10:g.110582A>C	ExAC,gnomAD
NPRL3	Q12980	p.His193Tyr	rs1367511037	missense variant	-	NC_000016.10:g.110577G>A	gnomAD
NPRL3	Q12980	p.Cys198Phe	rs956042191	missense variant	-	NC_000016.10:g.110561C>A	gnomAD
NPRL3	Q12980	p.Cys198Tyr	rs956042191	missense variant	-	NC_000016.10:g.110561C>T	gnomAD
NPRL3	Q12980	p.Lys199Asn	rs186859701	missense variant	-	NC_000016.10:g.110557C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg202Lys	rs1199667995	missense variant	-	NC_000016.10:g.110549C>T	gnomAD
NPRL3	Q12980	p.Leu204Ile	rs1490755071	missense variant	-	NC_000016.10:g.110544G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Leu204Phe	rs1490755071	missense variant	-	NC_000016.10:g.110544G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Lys205Met	rs772928538	missense variant	-	NC_000016.10:g.110540T>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Cys212Trp	rs769173039	missense variant	-	NC_000016.10:g.100503G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Cys212Tyr	rs1428801686	missense variant	-	NC_000016.10:g.100504C>T	gnomAD
NPRL3	Q12980	p.Thr213Met	rs776199294	missense variant	-	NC_000016.10:g.100501G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Thr213Ala	rs763341816	missense variant	-	NC_000016.10:g.100502T>C	ExAC,gnomAD
NPRL3	Q12980	p.Thr213Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.100501G>C	NCI-TCGA
NPRL3	Q12980	p.Ser214Leu	rs556232826	missense variant	-	NC_000016.10:g.100498G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser214Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.100499A>G	NCI-TCGA
NPRL3	Q12980	p.Ser214Leu	RCV000555683	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100498G>A	ClinVar
NPRL3	Q12980	p.Val216Ile	rs747266609	missense variant	-	NC_000016.10:g.100493C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg218Pro	rs201341279	missense variant	-	NC_000016.10:g.100486C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg218Gln	rs201341279	missense variant	-	NC_000016.10:g.100486C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg218Trp	rs201957188	missense variant	-	NC_000016.10:g.100487G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.His220Tyr	rs1226289044	missense variant	-	NC_000016.10:g.100481G>A	gnomAD
NPRL3	Q12980	p.Ile221Asn	rs780102496	missense variant	-	NC_000016.10:g.100477A>T	ExAC,gnomAD
NPRL3	Q12980	p.Glu226Lys	rs1400492029	missense variant	-	NC_000016.10:g.100463C>T	gnomAD
NPRL3	Q12980	p.Phe229SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.100453A>-	NCI-TCGA
NPRL3	Q12980	p.Leu231Pro	rs1302696363	missense variant	-	NC_000016.10:g.100447A>G	gnomAD
NPRL3	Q12980	p.Pro232Ala	rs1355924031	missense variant	-	NC_000016.10:g.100445G>C	gnomAD
NPRL3	Q12980	p.Ile235Val	rs1448374665	missense variant	-	NC_000016.10:g.100436T>C	gnomAD
NPRL3	Q12980	p.Ile235Met	rs766958453	missense variant	-	NC_000016.10:g.100434G>C	ExAC,gnomAD
NPRL3	Q12980	p.Ala238Val	rs761366554	missense variant	-	NC_000016.10:g.100426G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala239Asp	rs1215191829	missense variant	-	NC_000016.10:g.100423G>T	TOPMed
NPRL3	Q12980	p.Ser241Arg	rs1255211374	missense variant	-	NC_000016.10:g.100418T>G	gnomAD
NPRL3	Q12980	p.Pro244Ser	rs1225559784	missense variant	-	NC_000016.10:g.100409G>A	TOPMed
NPRL3	Q12980	p.Pro245Gln	rs763479734	missense variant	-	NC_000016.10:g.100405G>T	ExAC,gnomAD
NPRL3	Q12980	p.Pro245Ala	rs763779646	missense variant	-	NC_000016.10:g.100406G>C	ExAC,gnomAD
NPRL3	Q12980	p.Glu246Lys	rs1206603832	missense variant	-	NC_000016.10:g.100403C>T	TOPMed
NPRL3	Q12980	p.Ile248Phe	rs1243726109	missense variant	-	NC_000016.10:g.100397T>A	TOPMed
NPRL3	Q12980	p.Ile248Met	rs375592476	missense variant	-	NC_000016.10:g.100395G>C	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu249Lys	rs200041907	missense variant	-	NC_000016.10:g.100394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu249Lys	rs200041907	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100394C>T	UniProt,dbSNP
NPRL3	Q12980	p.Glu249Lys	VAR_077127	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100394C>T	UniProt
NPRL3	Q12980	p.Arg250Trp	rs577935445	missense variant	-	NC_000016.10:g.100391G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg250Gln	rs947759739	missense variant	-	NC_000016.10:g.100390C>T	TOPMed
NPRL3	Q12980	p.Arg250Trp	RCV000653295	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100391G>A	ClinVar
NPRL3	Q12980	p.Ser251Arg	rs770924192	missense variant	-	NC_000016.10:g.100386G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser251Asn	rs916257624	missense variant	-	NC_000016.10:g.100387C>T	TOPMed
NPRL3	Q12980	p.Leu252Pro	rs747035776	missense variant	-	NC_000016.10:g.100384A>G	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala254Thr	rs772274896	missense variant	-	NC_000016.10:g.100379C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg256His	rs755889116	missense variant	-	NC_000016.10:g.100372C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg256Cys	rs779688768	missense variant	-	NC_000016.10:g.100373G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg256Ser	rs779688768	missense variant	-	NC_000016.10:g.100373G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg256Gly	rs779688768	missense variant	-	NC_000016.10:g.100373G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro257Ala	rs746568841	missense variant	-	NC_000016.10:g.98300G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu261Met	COSM967265	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.98288G>T	NCI-TCGA Cosmic
NPRL3	Q12980	p.Leu263Pro	rs1270808503	missense variant	-	NC_000016.10:g.98281A>G	TOPMed,gnomAD
NPRL3	Q12980	p.Asp266Val	rs777449086	missense variant	-	NC_000016.10:g.98272T>A	ExAC
NPRL3	Q12980	p.Glu267Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.98269T>G	NCI-TCGA
NPRL3	Q12980	p.Glu267Asp	COSM283348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.98268C>A	NCI-TCGA Cosmic
NPRL3	Q12980	p.Gly272Ser	rs1201033319	missense variant	-	NC_000016.10:g.98255C>T	gnomAD
NPRL3	Q12980	p.Gly272Asp	rs375410124	missense variant	-	NC_000016.10:g.98254C>T	1000Genomes,ESP,TOPMed,gnomAD
NPRL3	Q12980	p.Glu273Asp	rs757942313	missense variant	-	NC_000016.10:g.98250C>G	ExAC,gnomAD
NPRL3	Q12980	p.Leu274Phe	rs752301363	missense variant	-	NC_000016.10:g.98249G>A	ExAC,gnomAD
NPRL3	Q12980	p.Pro275Ala	rs1331924887	missense variant	-	NC_000016.10:g.98246G>C	gnomAD
NPRL3	Q12980	p.Pro275His	COSM967263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.98245G>T	NCI-TCGA Cosmic
NPRL3	Q12980	p.Ile276Val	rs764890667	missense variant	-	NC_000016.10:g.98243T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Cys278Tyr	rs1228174298	missense variant	-	NC_000016.10:g.98236C>T	gnomAD
NPRL3	Q12980	p.Ser279Ter	RCV000241451	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.98234dup	ClinVar
NPRL3	Q12980	p.Ser279Phe	rs1376159152	missense variant	-	NC_000016.10:g.98233G>A	TOPMed
NPRL3	Q12980	p.Ala281CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.98229_98230insG	NCI-TCGA
NPRL3	Q12980	p.Ala281Val	rs1399562667	missense variant	-	NC_000016.10:g.98227G>A	TOPMed
NPRL3	Q12980	p.Ala281Thr	rs1323740837	missense variant	-	NC_000016.10:g.98228C>T	gnomAD
NPRL3	Q12980	p.Leu282Val	rs755359263	missense variant	-	NC_000016.10:g.98225G>C	ExAC,gnomAD
NPRL3	Q12980	p.Arg284Trp	rs766908016	missense variant	-	NC_000016.10:g.98219G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg284Leu	rs1437185591	missense variant	-	NC_000016.10:g.98218C>A	gnomAD
NPRL3	Q12980	p.Val285Met	rs373936494	missense variant	-	NC_000016.10:g.98216C>T	ESP,TOPMed
NPRL3	Q12980	p.Ile286Phe	rs369959139	missense variant	-	NC_000016.10:g.98213T>A	ESP,ExAC,gnomAD
NPRL3	Q12980	p.Lys287Thr	rs773656881	missense variant	-	NC_000016.10:g.98209T>G	ExAC,gnomAD
NPRL3	Q12980	p.Thr288Ile	rs774447369	missense variant	-	NC_000016.10:g.98206G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Thr288Asn	rs774447369	missense variant	-	NC_000016.10:g.98206G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser290Cys	rs768908442	missense variant	-	NC_000016.10:g.98200G>C	ExAC,gnomAD
NPRL3	Q12980	p.Ala291Ser	rs1377133061	missense variant	-	NC_000016.10:g.98198C>A	gnomAD
NPRL3	Q12980	p.Asn294Ile	rs776547727	missense variant	-	NC_000016.10:g.98188T>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gln296Arg	rs1231913439	missense variant	-	NC_000016.10:g.98182T>C	TOPMed,gnomAD
NPRL3	Q12980	p.Leu298Val	rs1246746750	missense variant	-	NC_000016.10:g.98177G>C	gnomAD
NPRL3	Q12980	p.Gln300Ter	rs746975723	stop gained	-	NC_000016.10:g.98171G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala302Val	rs777790535	missense variant	-	NC_000016.10:g.98164G>A	ExAC,gnomAD
NPRL3	Q12980	p.Gln308Ter	RCV000653299	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.98146_98147dup	ClinVar
NPRL3	Q12980	p.Leu312Phe	rs1168112146	missense variant	-	NC_000016.10:g.93316G>A	gnomAD
NPRL3	Q12980	p.Leu312Pro	rs1406394405	missense variant	-	NC_000016.10:g.93315A>G	gnomAD
NPRL3	Q12980	p.Ala313Glu	rs1416610172	missense variant	-	NC_000016.10:g.93312G>T	gnomAD
NPRL3	Q12980	p.His315Tyr	rs772044858	missense variant	-	NC_000016.10:g.93307G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val317Met	rs1253043821	missense variant	-	NC_000016.10:g.93301C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Val317Leu	rs1253043821	missense variant	-	NC_000016.10:g.93301C>A	TOPMed,gnomAD
NPRL3	Q12980	p.Gly320Ser	rs375417903	missense variant	-	NC_000016.10:g.93292C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala322Val	rs1222598806	missense variant	-	NC_000016.10:g.93285G>A	gnomAD
NPRL3	Q12980	p.Ile324Met	rs1164974252	missense variant	-	NC_000016.10:g.93278G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ile325Thr	rs1323377923	missense variant	-	NC_000016.10:g.93276A>G	gnomAD
NPRL3	Q12980	p.Cys329Gly	rs748965799	missense variant	-	NC_000016.10:g.93265A>C	ExAC,gnomAD
NPRL3	Q12980	p.Asn331Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.93258T>C	NCI-TCGA
NPRL3	Q12980	p.Asn331Lys	rs1348867235	missense variant	-	NC_000016.10:g.93257G>C	gnomAD
NPRL3	Q12980	p.Asn332Ser	rs1307437472	missense variant	-	NC_000016.10:g.93255T>C	gnomAD
NPRL3	Q12980	p.Asn332Thr	rs1307437472	missense variant	-	NC_000016.10:g.93255T>G	gnomAD
NPRL3	Q12980	p.Val333Ile	rs367664536	missense variant	-	NC_000016.10:g.93253C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val333Ile	RCV000532069	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.93253C>T	ClinVar
NPRL3	Q12980	p.Met335Ile	rs1413146908	missense variant	-	NC_000016.10:g.93245C>T	gnomAD
NPRL3	Q12980	p.Met335Val	rs1405349026	missense variant	-	NC_000016.10:g.93247T>C	gnomAD
NPRL3	Q12980	p.Met335Thr	rs1351072755	missense variant	-	NC_000016.10:g.93246A>G	TOPMed
NPRL3	Q12980	p.Leu336Pro	rs1161911658	missense variant	-	NC_000016.10:g.93243A>G	gnomAD
NPRL3	Q12980	p.Asn339Asp	rs750771818	missense variant	-	NC_000016.10:g.93235T>C	ExAC,gnomAD
NPRL3	Q12980	p.Asn339Ser	rs1250640658	missense variant	-	NC_000016.10:g.93234T>C	gnomAD
NPRL3	Q12980	p.Ala340Ser	rs1191225730	missense variant	-	NC_000016.10:g.93232C>A	gnomAD
NPRL3	Q12980	p.Ser341Cys	rs1436595621	missense variant	-	NC_000016.10:g.93229T>A	TOPMed
NPRL3	Q12980	p.Val342Leu	RCV000653310	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.93226C>A	ClinVar
NPRL3	Q12980	p.Val342Ile	rs11558704	missense variant	-	NC_000016.10:g.93226C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val342Leu	rs11558704	missense variant	-	NC_000016.10:g.93226C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val342Leu	rs11558704	missense variant	-	NC_000016.10:g.93226C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Tyr345Ser	rs1338036697	missense variant	-	NC_000016.10:g.92723T>G	TOPMed,gnomAD
NPRL3	Q12980	p.Ser346Pro	rs1218740557	missense variant	-	NC_000016.10:g.92721A>G	gnomAD
NPRL3	Q12980	p.Ser346Ala	rs1218740557	missense variant	-	NC_000016.10:g.92721A>C	gnomAD
NPRL3	Q12980	p.Pro347Ser	rs765599501	missense variant	-	NC_000016.10:g.92718G>A	ExAC,TOPMed
NPRL3	Q12980	p.Pro347Leu	rs755232774	missense variant	-	NC_000016.10:g.92717G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala349Thr	rs1388346755	missense variant	-	NC_000016.10:g.92712C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Glu350Lys	rs761443880	missense variant	-	NC_000016.10:g.92709C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Phe352Leu	rs1290969293	missense variant	-	NC_000016.10:g.92703A>G	TOPMed
NPRL3	Q12980	p.Ser353Cys	COSM115898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.92699G>C	NCI-TCGA Cosmic
NPRL3	Q12980	p.Gln355His	rs1487183768	missense variant	-	NC_000016.10:g.92692C>G	TOPMed
NPRL3	Q12980	p.Phe356Leu	rs1229321872	missense variant	-	NC_000016.10:g.92689G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Pro357Ter	RCV000241093	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.92689del	ClinVar
NPRL3	Q12980	p.Pro357Leu	rs1357083065	missense variant	-	NC_000016.10:g.92687G>A	gnomAD
NPRL3	Q12980	p.Ser358Phe	rs1039004556	missense variant	-	NC_000016.10:g.92684G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Ser358Cys	rs1039004556	missense variant	-	NC_000016.10:g.92684G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ser358Phe	RCV000558878	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.92684G>A	ClinVar
NPRL3	Q12980	p.Leu361Met	rs1174688982	missense variant	-	NC_000016.10:g.92676G>T	gnomAD
NPRL3	Q12980	p.Pro362Gln	rs763923760	missense variant	-	NC_000016.10:g.92672G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro362Leu	rs763923760	missense variant	-	NC_000016.10:g.92672G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val364Ile	rs769246932	missense variant	-	NC_000016.10:g.92667C>T	ExAC,gnomAD
NPRL3	Q12980	p.Lys367Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.92656C>A	NCI-TCGA
NPRL3	Q12980	p.Lys367Arg	rs776081581	missense variant	-	NC_000016.10:g.92657T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser369Cys	rs1050077507	missense variant	-	NC_000016.10:g.92651G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ser369Phe	rs1050077507	missense variant	-	NC_000016.10:g.92651G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Pro371Leu	rs747324879	missense variant	-	NC_000016.10:g.92645G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val372Ile	rs748290133	missense variant	-	NC_000016.10:g.92643C>T	ExAC
NPRL3	Q12980	p.Ser375Ter	rs1276927890	stop gained	-	NC_000016.10:g.92633G>T	gnomAD
NPRL3	Q12980	p.Glu376Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.92631C>A	NCI-TCGA
NPRL3	Q12980	p.Phe377Leu	rs1192413790	missense variant	-	NC_000016.10:g.92626A>C	gnomAD
NPRL3	Q12980	p.Pro380Leu	rs755067236	missense variant	-	NC_000016.10:g.92618G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala382Thr	rs1311832660	missense variant	-	NC_000016.10:g.92613C>T	TOPMed
NPRL3	Q12980	p.Ala382Val	rs375562061	missense variant	-	NC_000016.10:g.92612G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala384Thr	rs751307143	missense variant	-	NC_000016.10:g.92607C>T	ExAC,gnomAD
NPRL3	Q12980	p.Gln386Glu	rs1371859768	missense variant	-	NC_000016.10:g.92601G>C	gnomAD
NPRL3	Q12980	p.Thr388Ile	rs758123622	missense variant	-	NC_000016.10:g.89901G>A	ExAC,gnomAD
NPRL3	Q12980	p.Thr388Asn	rs758123622	missense variant	-	NC_000016.10:g.89901G>T	ExAC,gnomAD
NPRL3	Q12980	p.Thr388Ser	rs777576598	missense variant	-	NC_000016.10:g.89902T>A	ExAC,gnomAD
NPRL3	Q12980	p.Gln389Lys	RCV000690320	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89899G>T	ClinVar
NPRL3	Q12980	p.Gln389His	rs1212141280	missense variant	-	NC_000016.10:g.89897C>G	gnomAD
NPRL3	Q12980	p.Gln389Lys	rs1331117963	missense variant	-	NC_000016.10:g.89899G>T	TOPMed
NPRL3	Q12980	p.Gln399Ter	RCV000760732	nonsense	-	NC_000016.10:g.89869G>A	ClinVar
NPRL3	Q12980	p.Arg400Cys	rs556683821	missense variant	-	NC_000016.10:g.89866G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg400His	rs535478389	missense variant	-	NC_000016.10:g.89865C>T	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg401Gln	rs868451771	missense variant	-	NC_000016.10:g.89862C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Arg401Trp	rs375530015	missense variant	-	NC_000016.10:g.89863G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu402Phe	rs899497821	missense variant	-	NC_000016.10:g.89860G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Gln405His	RCV000547132	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89849C>G	ClinVar
NPRL3	Q12980	p.Gln405His	rs1426917813	missense variant	-	NC_000016.10:g.89849C>G	gnomAD
NPRL3	Q12980	p.Thr408Asn	rs762208602	missense variant	-	NC_000016.10:g.89841G>T	ExAC,gnomAD
NPRL3	Q12980	p.Tyr409Cys	rs775053528	missense variant	-	NC_000016.10:g.89838T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Cys411Phe	rs769281225	missense variant	-	NC_000016.10:g.89832C>A	ExAC,gnomAD
NPRL3	Q12980	p.Met413Ile	RCV000421348	missense variant	-	NC_000016.10:g.89825C>T	ClinVar
NPRL3	Q12980	p.Met413Ile	rs1057524503	missense variant	-	NC_000016.10:g.89825C>T	gnomAD
NPRL3	Q12980	p.Met413Arg	rs1378274030	missense variant	-	NC_000016.10:g.89826A>C	gnomAD
NPRL3	Q12980	p.Met413Val	rs749424318	missense variant	-	NC_000016.10:g.89827T>C	ExAC,gnomAD
NPRL3	Q12980	p.Ser415Pro	rs546525405	missense variant	-	NC_000016.10:g.89821A>G	1000Genomes,ExAC,gnomAD
NPRL3	Q12980	p.Ser415Pro	RCV000559690	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89821A>G	ClinVar
NPRL3	Q12980	p.Pro416Thr	rs890844593	missense variant	-	NC_000016.10:g.89818G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Pro416Leu	RCV000514367	missense variant	-	NC_000016.10:g.89817G>A	ClinVar
NPRL3	Q12980	p.Pro416Leu	rs746082270	missense variant	-	NC_000016.10:g.89817G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu418Lys	rs547498080	missense variant	-	NC_000016.10:g.89812C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu418Lys	RCV000535363	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89812C>T	ClinVar
NPRL3	Q12980	p.Glu419Gln	rs1183300636	missense variant	-	NC_000016.10:g.89809C>G	gnomAD
NPRL3	Q12980	p.Glu419Gly	rs752486321	missense variant	-	NC_000016.10:g.89808T>C	ExAC,gnomAD
NPRL3	Q12980	p.Glu420Lys	rs374777389	missense variant	-	NC_000016.10:g.89806C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu420Gln	rs374777389	missense variant	-	NC_000016.10:g.89806C>G	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu420Val	rs1228580630	missense variant	-	NC_000016.10:g.89805T>A	TOPMed
NPRL3	Q12980	p.Pro421Ser	rs570335978	missense variant	-	NC_000016.10:g.89803G>A	1000Genomes,ExAC
NPRL3	Q12980	p.Arg422Cys	rs753763592	missense variant	-	NC_000016.10:g.89800G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg422Gly	rs753763592	missense variant	-	NC_000016.10:g.89800G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg422His	rs765841003	missense variant	-	NC_000016.10:g.89799C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg422Pro	COSM6143491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.89799C>G	NCI-TCGA Cosmic
NPRL3	Q12980	p.Pro423Gln	rs200792895	missense variant	-	NC_000016.10:g.89796G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro423Leu	RCV000653297	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89796G>A	ClinVar
NPRL3	Q12980	p.Pro423Leu	rs200792895	missense variant	-	NC_000016.10:g.89796G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg424Gln	rs774824617	missense variant	-	NC_000016.10:g.89793C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg424Ter	RCV000686880	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89794dup	ClinVar
NPRL3	Q12980	p.Arg424Ter	rs886037961	stop gained	-	NC_000016.10:g.89794G>A	gnomAD
NPRL3	Q12980	p.Arg424Ter	RCV000241508	nonsense	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89794G>A	ClinVar
NPRL3	Q12980	p.Asp426Glu	RCV000548406	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89786G>C	ClinVar
NPRL3	Q12980	p.Asp426Gly	rs764744840	missense variant	-	NC_000016.10:g.89787T>C	ExAC
NPRL3	Q12980	p.Asp426Glu	rs74712570	missense variant	-	NC_000016.10:g.89786G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asp427Asn	rs769778379	missense variant	-	NC_000016.10:g.89785C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asp427Val	rs745950066	missense variant	-	NC_000016.10:g.89784T>A	ExAC,gnomAD
NPRL3	Q12980	p.Val428Leu	rs771113936	missense variant	-	NC_000016.10:g.89782C>G	ExAC,gnomAD
NPRL3	Q12980	p.Val428Ile	rs771113936	missense variant	-	NC_000016.10:g.89782C>T	ExAC,gnomAD
NPRL3	Q12980	p.Val428Ala	rs747988593	missense variant	-	NC_000016.10:g.89781A>G	ExAC,gnomAD
NPRL3	Q12980	p.Pro429His	rs1192935252	missense variant	-	NC_000016.10:g.89778G>T	gnomAD
NPRL3	Q12980	p.Pro429Ala	rs1246498899	missense variant	-	NC_000016.10:g.89779G>C	gnomAD
NPRL3	Q12980	p.Arg433Trp	rs372094629	missense variant	-	NC_000016.10:g.89767G>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg433Gln	rs781225056	missense variant	-	NC_000016.10:g.89766C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly435Ser	rs747774969	missense variant	-	NC_000016.10:g.89761C>T	TOPMed
NPRL3	Q12980	p.Gly436Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.89757C>T	NCI-TCGA
NPRL3	Q12980	p.Gly436Ser	rs548390527	missense variant	-	NC_000016.10:g.89758C>T	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly436Val	rs767317111	missense variant	-	NC_000016.10:g.89757C>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg437Cys	rs530150587	missense variant	-	NC_000016.10:g.89755G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg437His	rs751207437	missense variant	-	NC_000016.10:g.89754C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg437Leu	COSM6143494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.89754C>A	NCI-TCGA Cosmic
NPRL3	Q12980	p.Leu439Phe	rs763320453	missense variant	-	NC_000016.10:g.89749G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser440Gly	rs775920155	missense variant	-	NC_000016.10:g.89746T>C	ExAC,gnomAD
NPRL3	Q12980	p.Ser440Asn	rs765772689	missense variant	-	NC_000016.10:g.89745C>T	ExAC,gnomAD
NPRL3	Q12980	p.Thr441Met	rs776673140	missense variant	-	NC_000016.10:g.89742G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala444Thr	rs368198378	missense variant	-	NC_000016.10:g.89734C>T	ESP,ExAC,gnomAD
NPRL3	Q12980	p.Ala444Val	rs1485179848	missense variant	-	NC_000016.10:g.89733G>A	gnomAD
NPRL3	Q12980	p.Leu445Phe	rs1038155546	missense variant	-	NC_000016.10:g.89731G>A	gnomAD
NPRL3	Q12980	p.Leu445Val	rs1038155546	missense variant	-	NC_000016.10:g.89731G>C	gnomAD
NPRL3	Q12980	p.Ser446Arg	rs1555439773	missense variant	-	NC_000016.10:g.89726G>C	-
NPRL3	Q12980	p.Ser446Ile	rs1339919248	missense variant	-	NC_000016.10:g.89727C>A	gnomAD
NPRL3	Q12980	p.Ser446Arg	RCV000513513	missense variant	-	NC_000016.10:g.89726G>C	ClinVar
NPRL3	Q12980	p.Pro450Ser	rs941137627	missense variant	-	NC_000016.10:g.89716G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Thr451Pro	rs1358180656	missense variant	-	NC_000016.10:g.89713T>G	gnomAD
NPRL3	Q12980	p.Ser453Asn	COSM5093753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.88884C>T	NCI-TCGA Cosmic
NPRL3	Q12980	p.Asp455Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.88878T>A	NCI-TCGA
NPRL3	Q12980	p.Met456Ile	rs1213665281	missense variant	-	NC_000016.10:g.88874C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Thr459Ser	rs1283581177	missense variant	-	NC_000016.10:g.88866G>C	gnomAD
NPRL3	Q12980	p.Ser460Ter	RCV000241321	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88867_88868dup	ClinVar
NPRL3	Q12980	p.Ser460Arg	rs1219912132	missense variant	-	NC_000016.10:g.88864T>G	gnomAD
NPRL3	Q12980	p.Met463Val	rs777332376	missense variant	-	NC_000016.10:g.88855T>C	ExAC,gnomAD
NPRL3	Q12980	p.Ser466Phe	rs1301844770	missense variant	-	NC_000016.10:g.88845G>A	gnomAD
NPRL3	Q12980	p.Ser467Asn	rs1328766913	missense variant	-	NC_000016.10:g.88842C>T	gnomAD
NPRL3	Q12980	p.Ala468Thr	rs752246132	missense variant	-	NC_000016.10:g.88840C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu469Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.88837C>A	NCI-TCGA
NPRL3	Q12980	p.Glu469Lys	rs779369917	missense variant	-	NC_000016.10:g.88837C>T	ExAC,gnomAD
NPRL3	Q12980	p.Glu469Asp	rs376589453	missense variant	-	NC_000016.10:g.88835C>G	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly474Arg	rs374687256	missense variant	-	NC_000016.10:g.88822C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly474Glu	rs903336173	missense variant	-	NC_000016.10:g.88821C>T	TOPMed
NPRL3	Q12980	p.Ser476Leu	rs750482582	missense variant	-	NC_000016.10:g.88815G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro477Ser	rs1180529722	missense variant	-	NC_000016.10:g.88813G>A	TOPMed
NPRL3	Q12980	p.Leu478Arg	rs774394208	missense variant	-	NC_000016.10:g.88809A>C	ExAC,gnomAD
NPRL3	Q12980	p.Leu478Pro	rs774394208	missense variant	-	NC_000016.10:g.88809A>G	ExAC,gnomAD
NPRL3	Q12980	p.Gln480Arg	rs1484989339	missense variant	-	NC_000016.10:g.88803T>C	gnomAD
NPRL3	Q12980	p.Met482Ile	rs769714857	missense variant	-	NC_000016.10:g.88796C>T	ExAC,gnomAD
NPRL3	Q12980	p.Thr483Met	rs1055200832	missense variant	-	NC_000016.10:g.88794G>A	gnomAD
NPRL3	Q12980	p.Asn485Lys	rs746552103	missense variant	-	NC_000016.10:g.88787G>T	ExAC,gnomAD
NPRL3	Q12980	p.Asn485Thr	rs770962003	missense variant	-	NC_000016.10:g.88788T>G	ExAC,gnomAD
NPRL3	Q12980	p.Asn485Ser	rs770962003	missense variant	-	NC_000016.10:g.88788T>C	ExAC,gnomAD
NPRL3	Q12980	p.Leu486Met	rs777367602	missense variant	-	NC_000016.10:g.88786G>T	ExAC,gnomAD
NPRL3	Q12980	p.Leu487Arg	rs771445719	missense variant	-	NC_000016.10:g.88782A>C	ExAC,gnomAD
NPRL3	Q12980	p.Leu487Pro	rs771445719	missense variant	-	NC_000016.10:g.88782A>G	ExAC,gnomAD
NPRL3	Q12980	p.Ala488Val	rs755389478	missense variant	-	NC_000016.10:g.88779G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala488Pro	rs778377009	missense variant	-	NC_000016.10:g.88780C>G	ExAC,gnomAD
NPRL3	Q12980	p.Leu490Pro	rs1401753652	missense variant	-	NC_000016.10:g.88773A>G	TOPMed
NPRL3	Q12980	p.Ser491Trp	rs754194124	missense variant	-	NC_000016.10:g.88770G>C	ExAC,gnomAD
NPRL3	Q12980	p.Ser491Leu	rs754194124	missense variant	-	NC_000016.10:g.88770G>A	ExAC,gnomAD
NPRL3	Q12980	p.His493Pro	rs1164696887	missense variant	-	NC_000016.10:g.88764T>G	TOPMed
NPRL3	Q12980	p.Arg495His	rs750844568	missense variant	-	NC_000016.10:g.88758C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg495Cys	rs756589112	missense variant	-	NC_000016.10:g.88759G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala496Thr	rs58036849	missense variant	-	NC_000016.10:g.88756C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala496Thr	RCV000536843	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88756C>T	ClinVar
NPRL3	Q12980	p.Ala497Thr	rs377485939	missense variant	-	NC_000016.10:g.88753C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu499Phe	rs1210279714	missense variant	-	NC_000016.10:g.88747G>A	gnomAD
NPRL3	Q12980	p.Ser500Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.88744T>C	NCI-TCGA
NPRL3	Q12980	p.Ser500Arg	rs1483643181	missense variant	-	NC_000016.10:g.88744T>G	gnomAD
NPRL3	Q12980	p.Val501Ile	rs759446008	missense variant	-	NC_000016.10:g.88741C>T	ExAC,gnomAD
NPRL3	Q12980	p.Ala503Thr	rs372717858	missense variant	-	NC_000016.10:g.88735C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gln505Ter	RCV000653298	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88724_88728delinsAGCCCCAGAA	ClinVar
NPRL3	Q12980	p.Gln505Arg	rs760699855	missense variant	-	NC_000016.10:g.88728T>C	ExAC,gnomAD
NPRL3	Q12980	p.Asn506Tyr	RCV000653305	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88726T>A	ClinVar
NPRL3	Q12980	p.Asn506Tyr	rs202015937	missense variant	-	NC_000016.10:g.88726T>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro507Ala	rs1322990502	missense variant	-	NC_000016.10:g.88723G>C	TOPMed
NPRL3	Q12980	p.Glu508Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.88720C>T	NCI-TCGA
NPRL3	Q12980	p.Arg511His	rs375305549	missense variant	-	NC_000016.10:g.88710C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg511Cys	rs747602641	missense variant	-	NC_000016.10:g.88711G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Met512Val	rs768263296	missense variant	-	NC_000016.10:g.88708T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Phe513Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.88704A>G	NCI-TCGA
NPRL3	Q12980	p.Ala514Gly	rs780415806	missense variant	-	NC_000016.10:g.88701G>C	ExAC,gnomAD
NPRL3	Q12980	p.Arg515Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.88698C>G	NCI-TCGA
NPRL3	Q12980	p.Arg515Met	rs1166664517	missense variant	-	NC_000016.10:g.88698C>A	gnomAD
NPRL3	Q12980	p.His518Arg	rs1237758348	missense variant	-	NC_000016.10:g.86862T>C	gnomAD
NPRL3	Q12980	p.His518Asp	rs888499146	missense variant	-	NC_000016.10:g.86863G>C	TOPMed
NPRL3	Q12980	p.Phe520Leu	rs1331215677	missense variant	-	NC_000016.10:g.86855G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Arg521Cys	rs1305476231	missense variant	-	NC_000016.10:g.86854G>A	gnomAD
NPRL3	Q12980	p.Arg521Leu	rs758488510	missense variant	-	NC_000016.10:g.86853C>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg521His	rs758488510	missense variant	-	NC_000016.10:g.86853C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly522Ser	rs752985390	missense variant	-	NC_000016.10:g.86851C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg523His	rs756009039	missense variant	-	NC_000016.10:g.86847C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg523Cys	rs189283988	missense variant	-	NC_000016.10:g.86848G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Met530Thr	RCV000549345	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.86826A>G	ClinVar
NPRL3	Q12980	p.Met530Thr	rs1453118437	missense variant	-	NC_000016.10:g.86826A>G	gnomAD
NPRL3	Q12980	p.Asn532His	rs767536312	missense variant	-	NC_000016.10:g.86821T>G	ExAC,gnomAD
NPRL3	Q12980	p.Asn532Lys	rs763597112	missense variant	-	NC_000016.10:g.86819G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asn532Ser	rs371517875	missense variant	-	NC_000016.10:g.86820T>C	ESP,ExAC,gnomAD
NPRL3	Q12980	p.Glu533Lys	rs1319822209	missense variant	-	NC_000016.10:g.86818C>T	TOPMed
NPRL3	Q12980	p.Thr535Met	rs762391387	missense variant	-	NC_000016.10:g.86811G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg536Gln	rs759994243	missense variant	-	NC_000016.10:g.86808C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg536Trp	rs769327693	missense variant	-	NC_000016.10:g.86809G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg537His	rs771288626	missense variant	-	NC_000016.10:g.86805C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg537Pro	rs771288626	missense variant	-	NC_000016.10:g.86805C>G	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg537Cys	rs776882707	missense variant	-	NC_000016.10:g.86806G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Met542Thr	rs185556688	missense variant	-	NC_000016.10:g.86790A>G	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Met542Thr	RCV000653311	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.86790A>G	ClinVar
NPRL3	Q12980	p.Phe544Ser	rs748238757	missense variant	-	NC_000016.10:g.86784A>G	ExAC,gnomAD
NPRL3	Q12980	p.Phe547Leu	rs1043235108	missense variant	-	NC_000016.10:g.86774G>C	gnomAD
NPRL3	Q12980	p.Arg548His	rs367598130	missense variant	-	NC_000016.10:g.86772C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg548Leu	rs367598130	missense variant	-	NC_000016.10:g.86772C>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg548Ser	rs193221958	missense variant	-	NC_000016.10:g.86773G>T	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg548Cys	rs193221958	missense variant	-	NC_000016.10:g.86773G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser549Arg	rs1191944943	missense variant	-	NC_000016.10:g.86768G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ser549Gly	rs537555038	missense variant	-	NC_000016.10:g.86770T>C	1000Genomes,gnomAD
NPRL3	Q12980	p.Ser549Arg	rs537555038	missense variant	-	NC_000016.10:g.86770T>G	1000Genomes,gnomAD
NPRL3	Q12980	p.Val550Leu	rs188724206	missense variant	-	NC_000016.10:g.86767C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val550Met	rs188724206	missense variant	-	NC_000016.10:g.86767C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val550Leu	rs188724206	missense variant	-	NC_000016.10:g.86767C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val552Leu	rs1258990698	missense variant	-	NC_000016.10:g.86761C>G	gnomAD
NPRL3	Q12980	p.His556Gln	rs370315887	missense variant	-	NC_000016.10:g.86747G>C	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu557Lys	rs764005661	missense variant	-	NC_000016.10:g.86746C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val560Phe	rs752181668	missense variant	-	NC_000016.10:g.86737C>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val563Ile	rs764756422	missense variant	-	NC_000016.10:g.86728C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gln565Pro	rs1314801614	missense variant	-	NC_000016.10:g.86721T>G	gnomAD
NPRL3	Q12980	p.Gln565Glu	rs759144182	missense variant	-	NC_000016.10:g.86722G>C	ExAC,gnomAD
NPRL3	Q12980	p.Leu568Phe	rs776279336	missense variant	-	NC_000016.10:g.86713G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.ProTer569ProUnk	rs756232589	stop lost	-	NC_000016.10:g.86707_86708del	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro569Ser	rs1330077450	missense variant	-	NC_000016.10:g.86710G>A	gnomAD
NPRL3	Q12980	p.Ter570Ser	RCV000653296	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.86707_86708del	ClinVar
NPRL3	Q12980	p.Arg2Pro	rs752487586	missense variant	-	NC_000016.10:g.138263C>G	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg2Trp	rs866916266	missense variant	-	NC_000016.10:g.138264G>A	gnomAD
NPRL3	Q12980	p.Arg2Gln	rs752487586	missense variant	-	NC_000016.10:g.138263C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asp3Ala	rs1429725424	missense variant	-	NC_000016.10:g.138260T>G	TOPMed
NPRL3	Q12980	p.Asp3Glu	rs1478358968	missense variant	-	NC_000016.10:g.138259G>C	gnomAD
NPRL3	Q12980	p.Asn4Ser	rs759212295	missense variant	-	NC_000016.10:g.138257T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asn4Thr	rs759212295	missense variant	-	NC_000016.10:g.138257T>G	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Thr5Ile	rs776554504	missense variant	-	NC_000016.10:g.138254G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro7Leu	rs770799124	missense variant	-	NC_000016.10:g.138248G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro7His	rs770799124	missense variant	-	NC_000016.10:g.138248G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser9Gly	rs760236969	missense variant	-	NC_000016.10:g.138243T>C	ExAC,gnomAD
NPRL3	Q12980	p.Val10Met	rs1256050109	missense variant	-	NC_000016.10:g.138240C>T	gnomAD
NPRL3	Q12980	p.Val10Leu	rs1256050109	missense variant	-	NC_000016.10:g.138240C>G	gnomAD
NPRL3	Q12980	p.Ser14Asn	rs771660247	missense variant	-	NC_000016.10:g.138227C>T	ExAC,gnomAD
NPRL3	Q12980	p.Tyr26Phe	rs574961287	missense variant	-	NC_000016.10:g.138191T>A	gnomAD
NPRL3	Q12980	p.Pro27Leu	rs1303500452	missense variant	-	NC_000016.10:g.138188G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Pro27Ser	rs778379426	missense variant	-	NC_000016.10:g.138189G>A	ExAC,gnomAD
NPRL3	Q12980	p.Pro27His	rs1303500452	missense variant	-	NC_000016.10:g.138188G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Gln29Lys	rs1021394339	missense variant	-	NC_000016.10:g.138183G>T	TOPMed
NPRL3	Q12980	p.Ser31Asn	rs780716774	missense variant	-	NC_000016.10:g.138176C>T	ExAC,gnomAD
NPRL3	Q12980	p.Gln32Ter	RCV000705783	nonsense	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.138174G>A	ClinVar
NPRL3	Q12980	p.Glu33Gly	rs781311988	missense variant	-	NC_000016.10:g.138170T>C	ExAC,gnomAD
NPRL3	Q12980	p.Glu33Lys	rs745987603	missense variant	-	NC_000016.10:g.138171C>T	ExAC,gnomAD
NPRL3	Q12980	p.His34Tyr	rs1183041025	missense variant	-	NC_000016.10:g.138168G>A	gnomAD
NPRL3	Q12980	p.Pro35Ala	rs1163115652	missense variant	-	NC_000016.10:g.138165G>C	gnomAD
NPRL3	Q12980	p.Pro35Leu	rs1262389619	missense variant	-	NC_000016.10:g.138164G>A	gnomAD
NPRL3	Q12980	p.Ala36Val	rs751842451	missense variant	-	NC_000016.10:g.138161G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala36Thr	rs1418799391	missense variant	-	NC_000016.10:g.138162C>T	gnomAD
NPRL3	Q12980	p.Ser37Phe	rs1249393486	missense variant	-	NC_000016.10:g.138158G>A	gnomAD
NPRL3	Q12980	p.Ser40Asn	rs1277893899	missense variant	-	NC_000016.10:g.130591C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Lys41Glu	rs1299719512	missense variant	-	NC_000016.10:g.130589T>C	TOPMed
NPRL3	Q12980	p.Pro42Leu	rs762676113	missense variant	-	NC_000016.10:g.130585G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43Pro	rs376476299	missense variant	-	NC_000016.10:g.130582C>G	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43Leu	rs376476299	missense variant	-	NC_000016.10:g.130582C>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43Cys	rs770318147	missense variant	-	NC_000016.10:g.130583G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43His	rs376476299	missense variant	-	NC_000016.10:g.130582C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg43Ser	rs770318147	missense variant	-	NC_000016.10:g.130583G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser44Gly	rs1440203625	missense variant	-	NC_000016.10:g.130580T>C	TOPMed,gnomAD
NPRL3	Q12980	p.Tyr46Ter	RCV000653293	nonsense	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.130572G>C	ClinVar
NPRL3	Q12980	p.Tyr46His	rs1364502296	missense variant	-	NC_000016.10:g.130574A>G	gnomAD
NPRL3	Q12980	p.Tyr46Ter	rs1021001959	stop gained	-	NC_000016.10:g.130572G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ala47Thr	rs1401901852	missense variant	-	NC_000016.10:g.130571C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Ala47Ser	rs1401901852	missense variant	-	NC_000016.10:g.130571C>A	TOPMed,gnomAD
NPRL3	Q12980	p.Asn50Lys	rs373761767	missense variant	-	NC_000016.10:g.130560G>C	ESP,TOPMed,gnomAD
NPRL3	Q12980	p.Asn50Lys	RCV000658728	missense variant	-	NC_000016.10:g.130560G>C	ClinVar
NPRL3	Q12980	p.Thr51Met	rs777208794	missense variant	-	NC_000016.10:g.130558G>A	ExAC,gnomAD
NPRL3	Q12980	p.Gly52Asp	rs1180748912	missense variant	-	NC_000016.10:g.130555C>T	TOPMed
NPRL3	Q12980	p.Asp53Asn	rs1268399202	missense variant	-	NC_000016.10:g.130553C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Ala55Gly	rs1217583836	missense variant	-	NC_000016.10:g.130546G>C	gnomAD
NPRL3	Q12980	p.Asp56Val	rs1418498571	missense variant	-	NC_000016.10:g.130543T>A	gnomAD
NPRL3	Q12980	p.Asp56Asn	rs777683049	missense variant	-	NC_000016.10:g.130544C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu57Lys	rs907712162	missense variant	-	NC_000016.10:g.130541C>T	TOPMed
NPRL3	Q12980	p.Gln58Pro	rs1204695345	missense variant	-	NC_000016.10:g.130537T>G	gnomAD
NPRL3	Q12980	p.Asp59Tyr	rs1346241271	missense variant	-	NC_000016.10:g.130535C>A	gnomAD
NPRL3	Q12980	p.Asp59Glu	rs1048069050	missense variant	-	NC_000016.10:g.130533G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Gly60Ser	rs1222017166	missense variant	-	NC_000016.10:g.130532C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Asp61Val	rs779065782	missense variant	-	NC_000016.10:g.130528T>A	ExAC,gnomAD
NPRL3	Q12980	p.Asp61Asn	rs748391280	missense variant	-	NC_000016.10:g.130529C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser65Ter	RCV000579212	nonsense	-	NC_000016.10:g.119250G>C	ClinVar
NPRL3	Q12980	p.Ser65Ter	rs1555444207	stop gained	-	NC_000016.10:g.119250G>C	-
NPRL3	Q12980	p.Ile68Thr	rs766673462	missense variant	-	NC_000016.10:g.119241A>G	ExAC,gnomAD
NPRL3	Q12980	p.Thr71Ser	rs1345246971	missense variant	-	NC_000016.10:g.119233T>A	gnomAD
NPRL3	Q12980	p.Ile72Val	rs1343443394	missense variant	-	NC_000016.10:g.119230T>C	gnomAD
NPRL3	Q12980	p.Gly81Ser	rs1362999615	missense variant	-	NC_000016.10:g.119203C>T	gnomAD
NPRL3	Q12980	p.Gln82Pro	rs1178301849	missense variant	-	NC_000016.10:g.119199T>G	TOPMed
NPRL3	Q12980	p.Phe84Cys	rs560167568	missense variant	-	NC_000016.10:g.119193A>C	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu86Met	rs1451736465	missense variant	-	NC_000016.10:g.119188G>T	gnomAD
NPRL3	Q12980	p.Lys87Asn	rs1345062988	missense variant	-	NC_000016.10:g.119183C>A	TOPMed,gnomAD
NPRL3	Q12980	p.Asn90Ser	rs551576449	missense variant	-	NC_000016.10:g.119175T>C	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg92Gln	rs367729589	missense variant	-	NC_000016.10:g.119169C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg92Gln	rs367729589	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.119169C>T	UniProt,dbSNP
NPRL3	Q12980	p.Arg92Gln	VAR_077126	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.119169C>T	UniProt
NPRL3	Q12980	p.Arg92Gly	rs1199226176	missense variant	-	NC_000016.10:g.119170G>C	gnomAD
NPRL3	Q12980	p.Val94Phe	rs1184200053	missense variant	-	NC_000016.10:g.119164C>A	TOPMed,gnomAD
NPRL3	Q12980	p.Val94Ile	rs1184200053	missense variant	-	NC_000016.10:g.119164C>T	TOPMed,gnomAD
NPRL3	Q12980	p.His96Tyr	rs374486402	missense variant	-	NC_000016.10:g.119158G>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro97Ala	rs775744150	missense variant	-	NC_000016.10:g.119155G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro97Leu	rs924048126	missense variant	-	NC_000016.10:g.119154G>A	gnomAD
NPRL3	Q12980	p.Pro97Arg	rs924048126	missense variant	-	NC_000016.10:g.119154G>C	gnomAD
NPRL3	Q12980	p.His102Tyr	rs1262273277	missense variant	-	NC_000016.10:g.119140G>A	gnomAD
NPRL3	Q12980	p.Gln106Lys	rs1215657187	missense variant	-	NC_000016.10:g.119128G>T	TOPMed
NPRL3	Q12980	p.Ile107Val	rs1233680517	missense variant	-	NC_000016.10:g.117375T>C	gnomAD
NPRL3	Q12980	p.Lys109Arg	rs1323282813	missense variant	-	NC_000016.10:g.117368T>C	gnomAD
NPRL3	Q12980	p.Asp111Glu	rs770047002	missense variant	-	NC_000016.10:g.117361A>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro112Leu	rs373215354	missense variant	-	NC_000016.10:g.117359G>A	ESP,TOPMed
NPRL3	Q12980	p.Pro112Ala	rs1334111797	missense variant	-	NC_000016.10:g.117360G>C	gnomAD
NPRL3	Q12980	p.Pro114Leu	rs979345384	missense variant	-	NC_000016.10:g.117353G>A	TOPMed
NPRL3	Q12980	p.Leu123Phe	rs1245875822	missense variant	-	NC_000016.10:g.117327G>A	TOPMed
NPRL3	Q12980	p.Phe124Leu	rs772186484	missense variant	-	NC_000016.10:g.117324A>G	ExAC,gnomAD
NPRL3	Q12980	p.Phe124Ser	rs545827828	missense variant	-	NC_000016.10:g.117323A>G	1000Genomes,ExAC,gnomAD
NPRL3	Q12980	p.Val126Ala	rs1024335545	missense variant	-	NC_000016.10:g.117317A>G	TOPMed
NPRL3	Q12980	p.Val126Met	rs575270246	missense variant	-	NC_000016.10:g.117318C>T	1000Genomes,ExAC,gnomAD
NPRL3	Q12980	p.Val127Leu	rs1164870312	missense variant	-	NC_000016.10:g.117315C>A	gnomAD
NPRL3	Q12980	p.Phe128Ser	rs748774765	missense variant	-	NC_000016.10:g.117311A>G	ExAC,gnomAD
NPRL3	Q12980	p.Phe128Leu	rs779627025	missense variant	-	NC_000016.10:g.117310A>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala129Val	rs755783739	missense variant	-	NC_000016.10:g.117308G>A	ExAC,gnomAD
NPRL3	Q12980	p.Leu130Val	rs1195082438	missense variant	-	NC_000016.10:g.117306G>C	gnomAD
NPRL3	Q12980	p.Leu130Pro	rs1439082132	missense variant	-	NC_000016.10:g.117305A>G	TOPMed
NPRL3	Q12980	p.Asn133Ser	rs768624471	missense variant	-	NC_000016.10:g.112771T>C	ExAC,gnomAD
NPRL3	Q12980	p.Ala134Thr	rs779581743	missense variant	-	NC_000016.10:g.112769C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala134Gly	rs1205797247	missense variant	-	NC_000016.10:g.112768G>C	TOPMed
NPRL3	Q12980	p.Pro136Thr	rs769482319	missense variant	-	NC_000016.10:g.112763G>T	ExAC,gnomAD
NPRL3	Q12980	p.Pro136Gln	rs547462000	missense variant	-	NC_000016.10:g.112762G>T	ExAC,gnomAD
NPRL3	Q12980	p.Pro136Leu	rs547462000	missense variant	-	NC_000016.10:g.112762G>A	ExAC,gnomAD
NPRL3	Q12980	p.Val138Leu	rs1249139385	missense variant	-	NC_000016.10:g.112757C>G	gnomAD
NPRL3	Q12980	p.Leu142Ter	RCV000700825	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.112746_112749del	ClinVar
NPRL3	Q12980	p.His143Arg	rs959374963	missense variant	-	NC_000016.10:g.112741T>C	TOPMed,gnomAD
NPRL3	Q12980	p.His143Tyr	rs764927474	missense variant	-	NC_000016.10:g.112742G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ser146Ala	rs1429050749	missense variant	-	NC_000016.10:g.112733A>C	TOPMed
NPRL3	Q12980	p.Ser146Ter	RCV000627649	frameshift	-	NC_000016.10:g.112734del	ClinVar
NPRL3	Q12980	p.Arg147Cys	rs202129021	missense variant	-	NC_000016.10:g.112730G>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg147His	rs1470285968	missense variant	-	NC_000016.10:g.112729C>T	gnomAD
NPRL3	Q12980	p.Arg148Cys	rs201069648	missense variant	-	NC_000016.10:g.112727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg148His	rs1470708324	missense variant	-	NC_000016.10:g.112726C>T	TOPMed
NPRL3	Q12980	p.Ala150Thr	rs766649807	missense variant	-	NC_000016.10:g.112721C>T	ExAC,gnomAD
NPRL3	Q12980	p.Val152Met	rs539649449	missense variant	-	NC_000016.10:g.112715C>T	1000Genomes,TOPMed,gnomAD
NPRL3	Q12980	p.Glu156Lys	rs374060440	missense variant	-	NC_000016.10:g.112703C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu156Gly	rs1324954418	missense variant	-	NC_000016.10:g.112702T>C	gnomAD
NPRL3	Q12980	p.Glu157Gly	rs762922931	missense variant	-	NC_000016.10:g.112699T>C	ExAC,gnomAD
NPRL3	Q12980	p.Arg158His	rs1215682749	missense variant	-	NC_000016.10:g.112696C>T	TOPMed
NPRL3	Q12980	p.Arg158Cys	rs775239262	missense variant	-	NC_000016.10:g.112697G>A	ExAC,gnomAD
NPRL3	Q12980	p.Arg158Ser	rs775239262	missense variant	-	NC_000016.10:g.112697G>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg159Cys	rs769300436	missense variant	-	NC_000016.10:g.112694G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg159His	rs370299128	missense variant	-	NC_000016.10:g.112693C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Cys160Tyr	rs1393822175	missense variant	-	NC_000016.10:g.112690C>T	gnomAD
NPRL3	Q12980	p.Arg165Gln	rs770570210	missense variant	-	NC_000016.10:g.112675C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg165Gly	rs1324142773	missense variant	-	NC_000016.10:g.112676G>C	gnomAD
NPRL3	Q12980	p.Ala167Thr	rs569119130	missense variant	-	NC_000016.10:g.112670C>T	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala167Val	rs1408296201	missense variant	-	NC_000016.10:g.112669G>A	gnomAD
NPRL3	Q12980	p.Ala172Val	rs778177582	missense variant	-	NC_000016.10:g.112654G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu173Phe	rs753280871	missense variant	-	NC_000016.10:g.112652G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala179Thr	rs755120736	missense variant	-	NC_000016.10:g.112634C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala181Val	rs1452724103	missense variant	-	NC_000016.10:g.112627G>A	gnomAD
NPRL3	Q12980	p.Ala181Thr	rs766774400	missense variant	-	NC_000016.10:g.112628C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asn184His	RCV000525689	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.110604T>G	ClinVar
NPRL3	Q12980	p.Asn184His	rs73478320	missense variant	-	NC_000016.10:g.110604T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asn184Ser	rs1305766338	missense variant	-	NC_000016.10:g.110603T>C	gnomAD
NPRL3	Q12980	p.Glu185Gln	rs1188792699	missense variant	-	NC_000016.10:g.110601C>G	TOPMed
NPRL3	Q12980	p.Pro187Leu	rs1423126301	missense variant	-	NC_000016.10:g.110594G>A	TOPMed
NPRL3	Q12980	p.Gln188Arg	rs191687929	missense variant	-	NC_000016.10:g.110591T>C	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gln188Pro	rs191687929	missense variant	-	NC_000016.10:g.110591T>G	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro190Leu	rs530516163	missense variant	-	NC_000016.10:g.110585G>A	1000Genomes,ExAC,gnomAD
NPRL3	Q12980	p.Phe191Cys	rs752486246	missense variant	-	NC_000016.10:g.110582A>C	ExAC,gnomAD
NPRL3	Q12980	p.His193Tyr	rs1367511037	missense variant	-	NC_000016.10:g.110577G>A	gnomAD
NPRL3	Q12980	p.Cys198Phe	rs956042191	missense variant	-	NC_000016.10:g.110561C>A	gnomAD
NPRL3	Q12980	p.Cys198Tyr	rs956042191	missense variant	-	NC_000016.10:g.110561C>T	gnomAD
NPRL3	Q12980	p.Lys199Asn	rs186859701	missense variant	-	NC_000016.10:g.110557C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg202Lys	rs1199667995	missense variant	-	NC_000016.10:g.110549C>T	gnomAD
NPRL3	Q12980	p.Leu204Ile	rs1490755071	missense variant	-	NC_000016.10:g.110544G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Leu204Phe	rs1490755071	missense variant	-	NC_000016.10:g.110544G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Lys205Met	rs772928538	missense variant	-	NC_000016.10:g.110540T>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Cys212Tyr	rs1428801686	missense variant	-	NC_000016.10:g.100504C>T	gnomAD
NPRL3	Q12980	p.Cys212Trp	rs769173039	missense variant	-	NC_000016.10:g.100503G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Thr213Met	rs776199294	missense variant	-	NC_000016.10:g.100501G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Thr213Ala	rs763341816	missense variant	-	NC_000016.10:g.100502T>C	ExAC,gnomAD
NPRL3	Q12980	p.Ser214Leu	rs556232826	missense variant	-	NC_000016.10:g.100498G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser214Leu	RCV000555683	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100498G>A	ClinVar
NPRL3	Q12980	p.Val216Ile	rs747266609	missense variant	-	NC_000016.10:g.100493C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg218Pro	rs201341279	missense variant	-	NC_000016.10:g.100486C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg218Gln	rs201341279	missense variant	-	NC_000016.10:g.100486C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg218Trp	rs201957188	missense variant	-	NC_000016.10:g.100487G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.His220Tyr	rs1226289044	missense variant	-	NC_000016.10:g.100481G>A	gnomAD
NPRL3	Q12980	p.Ile221Asn	rs780102496	missense variant	-	NC_000016.10:g.100477A>T	ExAC,gnomAD
NPRL3	Q12980	p.Glu226Lys	rs1400492029	missense variant	-	NC_000016.10:g.100463C>T	gnomAD
NPRL3	Q12980	p.Leu231Pro	rs1302696363	missense variant	-	NC_000016.10:g.100447A>G	gnomAD
NPRL3	Q12980	p.Pro232Ala	rs1355924031	missense variant	-	NC_000016.10:g.100445G>C	gnomAD
NPRL3	Q12980	p.Ile235Val	rs1448374665	missense variant	-	NC_000016.10:g.100436T>C	gnomAD
NPRL3	Q12980	p.Ile235Met	rs766958453	missense variant	-	NC_000016.10:g.100434G>C	ExAC,gnomAD
NPRL3	Q12980	p.Ala238Val	rs761366554	missense variant	-	NC_000016.10:g.100426G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala239Asp	rs1215191829	missense variant	-	NC_000016.10:g.100423G>T	TOPMed
NPRL3	Q12980	p.Ser241Arg	rs1255211374	missense variant	-	NC_000016.10:g.100418T>G	gnomAD
NPRL3	Q12980	p.Pro244Ser	rs1225559784	missense variant	-	NC_000016.10:g.100409G>A	TOPMed
NPRL3	Q12980	p.Pro245Gln	rs763479734	missense variant	-	NC_000016.10:g.100405G>T	ExAC,gnomAD
NPRL3	Q12980	p.Pro245Ala	rs763779646	missense variant	-	NC_000016.10:g.100406G>C	ExAC,gnomAD
NPRL3	Q12980	p.Glu246Lys	rs1206603832	missense variant	-	NC_000016.10:g.100403C>T	TOPMed
NPRL3	Q12980	p.Ile248Phe	rs1243726109	missense variant	-	NC_000016.10:g.100397T>A	TOPMed
NPRL3	Q12980	p.Ile248Met	rs375592476	missense variant	-	NC_000016.10:g.100395G>C	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu249Lys	rs200041907	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100394C>T	UniProt,dbSNP
NPRL3	Q12980	p.Glu249Lys	VAR_077127	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100394C>T	UniProt
NPRL3	Q12980	p.Glu249Lys	rs200041907	missense variant	-	NC_000016.10:g.100394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg250Trp	rs577935445	missense variant	-	NC_000016.10:g.100391G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg250Trp	RCV000653295	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.100391G>A	ClinVar
NPRL3	Q12980	p.Arg250Gln	rs947759739	missense variant	-	NC_000016.10:g.100390C>T	TOPMed
NPRL3	Q12980	p.Ser251Arg	rs770924192	missense variant	-	NC_000016.10:g.100386G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser251Asn	rs916257624	missense variant	-	NC_000016.10:g.100387C>T	TOPMed
NPRL3	Q12980	p.Leu252Pro	rs747035776	missense variant	-	NC_000016.10:g.100384A>G	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala254Thr	rs772274896	missense variant	-	NC_000016.10:g.100379C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg256Cys	rs779688768	missense variant	-	NC_000016.10:g.100373G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg256His	rs755889116	missense variant	-	NC_000016.10:g.100372C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg256Ser	rs779688768	missense variant	-	NC_000016.10:g.100373G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg256Gly	rs779688768	missense variant	-	NC_000016.10:g.100373G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro257Ala	rs746568841	missense variant	-	NC_000016.10:g.98300G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu263Pro	rs1270808503	missense variant	-	NC_000016.10:g.98281A>G	TOPMed,gnomAD
NPRL3	Q12980	p.Asp266Val	rs777449086	missense variant	-	NC_000016.10:g.98272T>A	ExAC
NPRL3	Q12980	p.Gly272Ser	rs1201033319	missense variant	-	NC_000016.10:g.98255C>T	gnomAD
NPRL3	Q12980	p.Gly272Asp	rs375410124	missense variant	-	NC_000016.10:g.98254C>T	1000Genomes,ESP,TOPMed,gnomAD
NPRL3	Q12980	p.Glu273Asp	rs757942313	missense variant	-	NC_000016.10:g.98250C>G	ExAC,gnomAD
NPRL3	Q12980	p.Leu274Phe	rs752301363	missense variant	-	NC_000016.10:g.98249G>A	ExAC,gnomAD
NPRL3	Q12980	p.Pro275Ala	rs1331924887	missense variant	-	NC_000016.10:g.98246G>C	gnomAD
NPRL3	Q12980	p.Ile276Val	rs764890667	missense variant	-	NC_000016.10:g.98243T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Cys278Tyr	rs1228174298	missense variant	-	NC_000016.10:g.98236C>T	gnomAD
NPRL3	Q12980	p.Ser279Phe	rs1376159152	missense variant	-	NC_000016.10:g.98233G>A	TOPMed
NPRL3	Q12980	p.Ser279Ter	RCV000241451	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.98234dup	ClinVar
NPRL3	Q12980	p.Ala281Val	rs1399562667	missense variant	-	NC_000016.10:g.98227G>A	TOPMed
NPRL3	Q12980	p.Ala281Thr	rs1323740837	missense variant	-	NC_000016.10:g.98228C>T	gnomAD
NPRL3	Q12980	p.Leu282Val	rs755359263	missense variant	-	NC_000016.10:g.98225G>C	ExAC,gnomAD
NPRL3	Q12980	p.Arg284Trp	rs766908016	missense variant	-	NC_000016.10:g.98219G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg284Leu	rs1437185591	missense variant	-	NC_000016.10:g.98218C>A	gnomAD
NPRL3	Q12980	p.Val285Met	rs373936494	missense variant	-	NC_000016.10:g.98216C>T	ESP,TOPMed
NPRL3	Q12980	p.Ile286Phe	rs369959139	missense variant	-	NC_000016.10:g.98213T>A	ESP,ExAC,gnomAD
NPRL3	Q12980	p.Lys287Thr	rs773656881	missense variant	-	NC_000016.10:g.98209T>G	ExAC,gnomAD
NPRL3	Q12980	p.Thr288Ile	rs774447369	missense variant	-	NC_000016.10:g.98206G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Thr288Asn	rs774447369	missense variant	-	NC_000016.10:g.98206G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser290Cys	rs768908442	missense variant	-	NC_000016.10:g.98200G>C	ExAC,gnomAD
NPRL3	Q12980	p.Ala291Ser	rs1377133061	missense variant	-	NC_000016.10:g.98198C>A	gnomAD
NPRL3	Q12980	p.Asn294Ile	rs776547727	missense variant	-	NC_000016.10:g.98188T>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gln296Arg	rs1231913439	missense variant	-	NC_000016.10:g.98182T>C	TOPMed,gnomAD
NPRL3	Q12980	p.Leu298Val	rs1246746750	missense variant	-	NC_000016.10:g.98177G>C	gnomAD
NPRL3	Q12980	p.Gln300Ter	rs746975723	stop gained	-	NC_000016.10:g.98171G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala302Val	rs777790535	missense variant	-	NC_000016.10:g.98164G>A	ExAC,gnomAD
NPRL3	Q12980	p.Gln308Ter	RCV000653299	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.98146_98147dup	ClinVar
NPRL3	Q12980	p.Leu312Phe	rs1168112146	missense variant	-	NC_000016.10:g.93316G>A	gnomAD
NPRL3	Q12980	p.Leu312Pro	rs1406394405	missense variant	-	NC_000016.10:g.93315A>G	gnomAD
NPRL3	Q12980	p.Ala313Glu	rs1416610172	missense variant	-	NC_000016.10:g.93312G>T	gnomAD
NPRL3	Q12980	p.His315Tyr	rs772044858	missense variant	-	NC_000016.10:g.93307G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val317Leu	rs1253043821	missense variant	-	NC_000016.10:g.93301C>A	TOPMed,gnomAD
NPRL3	Q12980	p.Val317Met	rs1253043821	missense variant	-	NC_000016.10:g.93301C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Gly320Ser	rs375417903	missense variant	-	NC_000016.10:g.93292C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala322Val	rs1222598806	missense variant	-	NC_000016.10:g.93285G>A	gnomAD
NPRL3	Q12980	p.Ile324Met	rs1164974252	missense variant	-	NC_000016.10:g.93278G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ile325Thr	rs1323377923	missense variant	-	NC_000016.10:g.93276A>G	gnomAD
NPRL3	Q12980	p.Cys329Gly	rs748965799	missense variant	-	NC_000016.10:g.93265A>C	ExAC,gnomAD
NPRL3	Q12980	p.Asn331Lys	rs1348867235	missense variant	-	NC_000016.10:g.93257G>C	gnomAD
NPRL3	Q12980	p.Asn332Ser	rs1307437472	missense variant	-	NC_000016.10:g.93255T>C	gnomAD
NPRL3	Q12980	p.Asn332Thr	rs1307437472	missense variant	-	NC_000016.10:g.93255T>G	gnomAD
NPRL3	Q12980	p.Val333Ile	RCV000532069	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.93253C>T	ClinVar
NPRL3	Q12980	p.Val333Ile	rs367664536	missense variant	-	NC_000016.10:g.93253C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Met335Ile	rs1413146908	missense variant	-	NC_000016.10:g.93245C>T	gnomAD
NPRL3	Q12980	p.Met335Thr	rs1351072755	missense variant	-	NC_000016.10:g.93246A>G	TOPMed
NPRL3	Q12980	p.Met335Val	rs1405349026	missense variant	-	NC_000016.10:g.93247T>C	gnomAD
NPRL3	Q12980	p.Leu336Pro	rs1161911658	missense variant	-	NC_000016.10:g.93243A>G	gnomAD
NPRL3	Q12980	p.Asn339Asp	rs750771818	missense variant	-	NC_000016.10:g.93235T>C	ExAC,gnomAD
NPRL3	Q12980	p.Asn339Ser	rs1250640658	missense variant	-	NC_000016.10:g.93234T>C	gnomAD
NPRL3	Q12980	p.Ala340Ser	rs1191225730	missense variant	-	NC_000016.10:g.93232C>A	gnomAD
NPRL3	Q12980	p.Ser341Cys	rs1436595621	missense variant	-	NC_000016.10:g.93229T>A	TOPMed
NPRL3	Q12980	p.Val342Leu	rs11558704	missense variant	-	NC_000016.10:g.93226C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val342Ile	rs11558704	missense variant	-	NC_000016.10:g.93226C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val342Leu	rs11558704	missense variant	-	NC_000016.10:g.93226C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val342Leu	RCV000653310	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.93226C>A	ClinVar
NPRL3	Q12980	p.Tyr345Ser	rs1338036697	missense variant	-	NC_000016.10:g.92723T>G	TOPMed,gnomAD
NPRL3	Q12980	p.Ser346Pro	rs1218740557	missense variant	-	NC_000016.10:g.92721A>G	gnomAD
NPRL3	Q12980	p.Ser346Ala	rs1218740557	missense variant	-	NC_000016.10:g.92721A>C	gnomAD
NPRL3	Q12980	p.Pro347Ser	rs765599501	missense variant	-	NC_000016.10:g.92718G>A	ExAC,TOPMed
NPRL3	Q12980	p.Pro347Leu	rs755232774	missense variant	-	NC_000016.10:g.92717G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala349Thr	rs1388346755	missense variant	-	NC_000016.10:g.92712C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Glu350Lys	rs761443880	missense variant	-	NC_000016.10:g.92709C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Phe352Leu	rs1290969293	missense variant	-	NC_000016.10:g.92703A>G	TOPMed
NPRL3	Q12980	p.Gln355His	rs1487183768	missense variant	-	NC_000016.10:g.92692C>G	TOPMed
NPRL3	Q12980	p.Phe356Leu	rs1229321872	missense variant	-	NC_000016.10:g.92689G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Pro357Leu	rs1357083065	missense variant	-	NC_000016.10:g.92687G>A	gnomAD
NPRL3	Q12980	p.Pro357Ter	RCV000241093	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.92689del	ClinVar
NPRL3	Q12980	p.Ser358Phe	rs1039004556	missense variant	-	NC_000016.10:g.92684G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Ser358Cys	rs1039004556	missense variant	-	NC_000016.10:g.92684G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ser358Phe	RCV000558878	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.92684G>A	ClinVar
NPRL3	Q12980	p.Leu361Met	rs1174688982	missense variant	-	NC_000016.10:g.92676G>T	gnomAD
NPRL3	Q12980	p.Pro362Gln	rs763923760	missense variant	-	NC_000016.10:g.92672G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro362Leu	rs763923760	missense variant	-	NC_000016.10:g.92672G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val364Ile	rs769246932	missense variant	-	NC_000016.10:g.92667C>T	ExAC,gnomAD
NPRL3	Q12980	p.Lys367Arg	rs776081581	missense variant	-	NC_000016.10:g.92657T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser369Cys	rs1050077507	missense variant	-	NC_000016.10:g.92651G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ser369Phe	rs1050077507	missense variant	-	NC_000016.10:g.92651G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Pro371Leu	rs747324879	missense variant	-	NC_000016.10:g.92645G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val372Ile	rs748290133	missense variant	-	NC_000016.10:g.92643C>T	ExAC
NPRL3	Q12980	p.Ser375Ter	rs1276927890	stop gained	-	NC_000016.10:g.92633G>T	gnomAD
NPRL3	Q12980	p.Phe377Leu	rs1192413790	missense variant	-	NC_000016.10:g.92626A>C	gnomAD
NPRL3	Q12980	p.Pro380Leu	rs755067236	missense variant	-	NC_000016.10:g.92618G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala382Thr	rs1311832660	missense variant	-	NC_000016.10:g.92613C>T	TOPMed
NPRL3	Q12980	p.Ala382Val	rs375562061	missense variant	-	NC_000016.10:g.92612G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala384Thr	rs751307143	missense variant	-	NC_000016.10:g.92607C>T	ExAC,gnomAD
NPRL3	Q12980	p.Gln386Glu	rs1371859768	missense variant	-	NC_000016.10:g.92601G>C	gnomAD
NPRL3	Q12980	p.Thr388Ile	rs758123622	missense variant	-	NC_000016.10:g.89901G>A	ExAC,gnomAD
NPRL3	Q12980	p.Thr388Asn	rs758123622	missense variant	-	NC_000016.10:g.89901G>T	ExAC,gnomAD
NPRL3	Q12980	p.Thr388Ser	rs777576598	missense variant	-	NC_000016.10:g.89902T>A	ExAC,gnomAD
NPRL3	Q12980	p.Gln389Lys	RCV000690320	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89899G>T	ClinVar
NPRL3	Q12980	p.Gln389Lys	rs1331117963	missense variant	-	NC_000016.10:g.89899G>T	TOPMed
NPRL3	Q12980	p.Gln389His	rs1212141280	missense variant	-	NC_000016.10:g.89897C>G	gnomAD
NPRL3	Q12980	p.Gln399Ter	RCV000760732	nonsense	-	NC_000016.10:g.89869G>A	ClinVar
NPRL3	Q12980	p.Arg400Cys	rs556683821	missense variant	-	NC_000016.10:g.89866G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg400His	rs535478389	missense variant	-	NC_000016.10:g.89865C>T	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg401Gln	rs868451771	missense variant	-	NC_000016.10:g.89862C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Arg401Trp	rs375530015	missense variant	-	NC_000016.10:g.89863G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu402Phe	rs899497821	missense variant	-	NC_000016.10:g.89860G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Gln405His	RCV000547132	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89849C>G	ClinVar
NPRL3	Q12980	p.Gln405His	rs1426917813	missense variant	-	NC_000016.10:g.89849C>G	gnomAD
NPRL3	Q12980	p.Thr408Asn	rs762208602	missense variant	-	NC_000016.10:g.89841G>T	ExAC,gnomAD
NPRL3	Q12980	p.Tyr409Cys	rs775053528	missense variant	-	NC_000016.10:g.89838T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Cys411Phe	rs769281225	missense variant	-	NC_000016.10:g.89832C>A	ExAC,gnomAD
NPRL3	Q12980	p.Met413Val	rs749424318	missense variant	-	NC_000016.10:g.89827T>C	ExAC,gnomAD
NPRL3	Q12980	p.Met413Ile	rs1057524503	missense variant	-	NC_000016.10:g.89825C>T	gnomAD
NPRL3	Q12980	p.Met413Arg	rs1378274030	missense variant	-	NC_000016.10:g.89826A>C	gnomAD
NPRL3	Q12980	p.Met413Ile	RCV000421348	missense variant	-	NC_000016.10:g.89825C>T	ClinVar
NPRL3	Q12980	p.Ser415Pro	rs546525405	missense variant	-	NC_000016.10:g.89821A>G	1000Genomes,ExAC,gnomAD
NPRL3	Q12980	p.Ser415Pro	RCV000559690	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89821A>G	ClinVar
NPRL3	Q12980	p.Pro416Leu	RCV000514367	missense variant	-	NC_000016.10:g.89817G>A	ClinVar
NPRL3	Q12980	p.Pro416Thr	rs890844593	missense variant	-	NC_000016.10:g.89818G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Pro416Leu	rs746082270	missense variant	-	NC_000016.10:g.89817G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu418Lys	rs547498080	missense variant	-	NC_000016.10:g.89812C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu418Lys	RCV000535363	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89812C>T	ClinVar
NPRL3	Q12980	p.Glu419Gly	rs752486321	missense variant	-	NC_000016.10:g.89808T>C	ExAC,gnomAD
NPRL3	Q12980	p.Glu419Gln	rs1183300636	missense variant	-	NC_000016.10:g.89809C>G	gnomAD
NPRL3	Q12980	p.Glu420Val	rs1228580630	missense variant	-	NC_000016.10:g.89805T>A	TOPMed
NPRL3	Q12980	p.Glu420Lys	rs374777389	missense variant	-	NC_000016.10:g.89806C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu420Gln	rs374777389	missense variant	-	NC_000016.10:g.89806C>G	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro421Ser	rs570335978	missense variant	-	NC_000016.10:g.89803G>A	1000Genomes,ExAC
NPRL3	Q12980	p.Arg422Gly	rs753763592	missense variant	-	NC_000016.10:g.89800G>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg422Cys	rs753763592	missense variant	-	NC_000016.10:g.89800G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg422His	rs765841003	missense variant	-	NC_000016.10:g.89799C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro423Gln	rs200792895	missense variant	-	NC_000016.10:g.89796G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro423Leu	RCV000653297	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89796G>A	ClinVar
NPRL3	Q12980	p.Pro423Leu	rs200792895	missense variant	-	NC_000016.10:g.89796G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg424Ter	RCV000686880	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89794dup	ClinVar
NPRL3	Q12980	p.Arg424Gln	rs774824617	missense variant	-	NC_000016.10:g.89793C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg424Ter	rs886037961	stop gained	-	NC_000016.10:g.89794G>A	gnomAD
NPRL3	Q12980	p.Arg424Ter	RCV000241508	nonsense	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89794G>A	ClinVar
NPRL3	Q12980	p.Asp426Glu	RCV000548406	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.89786G>C	ClinVar
NPRL3	Q12980	p.Asp426Gly	rs764744840	missense variant	-	NC_000016.10:g.89787T>C	ExAC
NPRL3	Q12980	p.Asp426Glu	rs74712570	missense variant	-	NC_000016.10:g.89786G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asp427Asn	rs769778379	missense variant	-	NC_000016.10:g.89785C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Asp427Val	rs745950066	missense variant	-	NC_000016.10:g.89784T>A	ExAC,gnomAD
NPRL3	Q12980	p.Val428Ile	rs771113936	missense variant	-	NC_000016.10:g.89782C>T	ExAC,gnomAD
NPRL3	Q12980	p.Val428Leu	rs771113936	missense variant	-	NC_000016.10:g.89782C>G	ExAC,gnomAD
NPRL3	Q12980	p.Val428Ala	rs747988593	missense variant	-	NC_000016.10:g.89781A>G	ExAC,gnomAD
NPRL3	Q12980	p.Pro429His	rs1192935252	missense variant	-	NC_000016.10:g.89778G>T	gnomAD
NPRL3	Q12980	p.Pro429Ala	rs1246498899	missense variant	-	NC_000016.10:g.89779G>C	gnomAD
NPRL3	Q12980	p.Arg433Gln	rs781225056	missense variant	-	NC_000016.10:g.89766C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg433Trp	rs372094629	missense variant	-	NC_000016.10:g.89767G>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly435Ser	rs747774969	missense variant	-	NC_000016.10:g.89761C>T	TOPMed
NPRL3	Q12980	p.Gly436Ser	rs548390527	missense variant	-	NC_000016.10:g.89758C>T	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly436Val	rs767317111	missense variant	-	NC_000016.10:g.89757C>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg437Cys	rs530150587	missense variant	-	NC_000016.10:g.89755G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg437His	rs751207437	missense variant	-	NC_000016.10:g.89754C>T	ExAC,gnomAD
NPRL3	Q12980	p.Leu439Phe	rs763320453	missense variant	-	NC_000016.10:g.89749G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser440Gly	rs775920155	missense variant	-	NC_000016.10:g.89746T>C	ExAC,gnomAD
NPRL3	Q12980	p.Ser440Asn	rs765772689	missense variant	-	NC_000016.10:g.89745C>T	ExAC,gnomAD
NPRL3	Q12980	p.Thr441Met	rs776673140	missense variant	-	NC_000016.10:g.89742G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala444Thr	rs368198378	missense variant	-	NC_000016.10:g.89734C>T	ESP,ExAC,gnomAD
NPRL3	Q12980	p.Ala444Val	rs1485179848	missense variant	-	NC_000016.10:g.89733G>A	gnomAD
NPRL3	Q12980	p.Leu445Phe	rs1038155546	missense variant	-	NC_000016.10:g.89731G>A	gnomAD
NPRL3	Q12980	p.Leu445Val	rs1038155546	missense variant	-	NC_000016.10:g.89731G>C	gnomAD
NPRL3	Q12980	p.Ser446Arg	rs1555439773	missense variant	-	NC_000016.10:g.89726G>C	-
NPRL3	Q12980	p.Ser446Ile	rs1339919248	missense variant	-	NC_000016.10:g.89727C>A	gnomAD
NPRL3	Q12980	p.Ser446Arg	RCV000513513	missense variant	-	NC_000016.10:g.89726G>C	ClinVar
NPRL3	Q12980	p.Pro450Ser	rs941137627	missense variant	-	NC_000016.10:g.89716G>A	TOPMed,gnomAD
NPRL3	Q12980	p.Thr451Pro	rs1358180656	missense variant	-	NC_000016.10:g.89713T>G	gnomAD
NPRL3	Q12980	p.Met456Ile	rs1213665281	missense variant	-	NC_000016.10:g.88874C>T	TOPMed,gnomAD
NPRL3	Q12980	p.Thr459Ser	rs1283581177	missense variant	-	NC_000016.10:g.88866G>C	gnomAD
NPRL3	Q12980	p.Ser460Ter	RCV000241321	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88867_88868dup	ClinVar
NPRL3	Q12980	p.Ser460Arg	rs1219912132	missense variant	-	NC_000016.10:g.88864T>G	gnomAD
NPRL3	Q12980	p.Met463Val	rs777332376	missense variant	-	NC_000016.10:g.88855T>C	ExAC,gnomAD
NPRL3	Q12980	p.Ser466Phe	rs1301844770	missense variant	-	NC_000016.10:g.88845G>A	gnomAD
NPRL3	Q12980	p.Ser467Asn	rs1328766913	missense variant	-	NC_000016.10:g.88842C>T	gnomAD
NPRL3	Q12980	p.Ala468Thr	rs752246132	missense variant	-	NC_000016.10:g.88840C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu469Lys	rs779369917	missense variant	-	NC_000016.10:g.88837C>T	ExAC,gnomAD
NPRL3	Q12980	p.Glu469Asp	rs376589453	missense variant	-	NC_000016.10:g.88835C>G	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly474Arg	rs374687256	missense variant	-	NC_000016.10:g.88822C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly474Glu	rs903336173	missense variant	-	NC_000016.10:g.88821C>T	TOPMed
NPRL3	Q12980	p.Ser476Leu	rs750482582	missense variant	-	NC_000016.10:g.88815G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro477Ser	rs1180529722	missense variant	-	NC_000016.10:g.88813G>A	TOPMed
NPRL3	Q12980	p.Leu478Arg	rs774394208	missense variant	-	NC_000016.10:g.88809A>C	ExAC,gnomAD
NPRL3	Q12980	p.Leu478Pro	rs774394208	missense variant	-	NC_000016.10:g.88809A>G	ExAC,gnomAD
NPRL3	Q12980	p.Gln480Arg	rs1484989339	missense variant	-	NC_000016.10:g.88803T>C	gnomAD
NPRL3	Q12980	p.Met482Ile	rs769714857	missense variant	-	NC_000016.10:g.88796C>T	ExAC,gnomAD
NPRL3	Q12980	p.Thr483Met	rs1055200832	missense variant	-	NC_000016.10:g.88794G>A	gnomAD
NPRL3	Q12980	p.Asn485Lys	rs746552103	missense variant	-	NC_000016.10:g.88787G>T	ExAC,gnomAD
NPRL3	Q12980	p.Asn485Ser	rs770962003	missense variant	-	NC_000016.10:g.88788T>C	ExAC,gnomAD
NPRL3	Q12980	p.Asn485Thr	rs770962003	missense variant	-	NC_000016.10:g.88788T>G	ExAC,gnomAD
NPRL3	Q12980	p.Leu486Met	rs777367602	missense variant	-	NC_000016.10:g.88786G>T	ExAC,gnomAD
NPRL3	Q12980	p.Leu487Arg	rs771445719	missense variant	-	NC_000016.10:g.88782A>C	ExAC,gnomAD
NPRL3	Q12980	p.Leu487Pro	rs771445719	missense variant	-	NC_000016.10:g.88782A>G	ExAC,gnomAD
NPRL3	Q12980	p.Ala488Val	rs755389478	missense variant	-	NC_000016.10:g.88779G>A	ExAC,gnomAD
NPRL3	Q12980	p.Ala488Pro	rs778377009	missense variant	-	NC_000016.10:g.88780C>G	ExAC,gnomAD
NPRL3	Q12980	p.Leu490Pro	rs1401753652	missense variant	-	NC_000016.10:g.88773A>G	TOPMed
NPRL3	Q12980	p.Ser491Trp	rs754194124	missense variant	-	NC_000016.10:g.88770G>C	ExAC,gnomAD
NPRL3	Q12980	p.Ser491Leu	rs754194124	missense variant	-	NC_000016.10:g.88770G>A	ExAC,gnomAD
NPRL3	Q12980	p.His493Pro	rs1164696887	missense variant	-	NC_000016.10:g.88764T>G	TOPMed
NPRL3	Q12980	p.Arg495His	rs750844568	missense variant	-	NC_000016.10:g.88758C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg495Cys	rs756589112	missense variant	-	NC_000016.10:g.88759G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala496Thr	rs58036849	missense variant	-	NC_000016.10:g.88756C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala496Thr	RCV000536843	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88756C>T	ClinVar
NPRL3	Q12980	p.Ala497Thr	rs377485939	missense variant	-	NC_000016.10:g.88753C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Leu499Phe	rs1210279714	missense variant	-	NC_000016.10:g.88747G>A	gnomAD
NPRL3	Q12980	p.Ser500Arg	rs1483643181	missense variant	-	NC_000016.10:g.88744T>G	gnomAD
NPRL3	Q12980	p.Val501Ile	rs759446008	missense variant	-	NC_000016.10:g.88741C>T	ExAC,gnomAD
NPRL3	Q12980	p.Ala503Thr	rs372717858	missense variant	-	NC_000016.10:g.88735C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gln505Ter	RCV000653298	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88724_88728delinsAGCCCCAGAA	ClinVar
NPRL3	Q12980	p.Gln505Arg	rs760699855	missense variant	-	NC_000016.10:g.88728T>C	ExAC,gnomAD
NPRL3	Q12980	p.Asn506Tyr	RCV000653305	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.88726T>A	ClinVar
NPRL3	Q12980	p.Asn506Tyr	rs202015937	missense variant	-	NC_000016.10:g.88726T>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro507Ala	rs1322990502	missense variant	-	NC_000016.10:g.88723G>C	TOPMed
NPRL3	Q12980	p.Arg511His	rs375305549	missense variant	-	NC_000016.10:g.88710C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg511Cys	rs747602641	missense variant	-	NC_000016.10:g.88711G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Met512Val	rs768263296	missense variant	-	NC_000016.10:g.88708T>C	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ala514Gly	rs780415806	missense variant	-	NC_000016.10:g.88701G>C	ExAC,gnomAD
NPRL3	Q12980	p.Arg515Met	rs1166664517	missense variant	-	NC_000016.10:g.88698C>A	gnomAD
NPRL3	Q12980	p.His518Arg	rs1237758348	missense variant	-	NC_000016.10:g.86862T>C	gnomAD
NPRL3	Q12980	p.His518Asp	rs888499146	missense variant	-	NC_000016.10:g.86863G>C	TOPMed
NPRL3	Q12980	p.Phe520Leu	rs1331215677	missense variant	-	NC_000016.10:g.86855G>T	TOPMed,gnomAD
NPRL3	Q12980	p.Arg521Cys	rs1305476231	missense variant	-	NC_000016.10:g.86854G>A	gnomAD
NPRL3	Q12980	p.Arg521His	rs758488510	missense variant	-	NC_000016.10:g.86853C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg521Leu	rs758488510	missense variant	-	NC_000016.10:g.86853C>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gly522Ser	rs752985390	missense variant	-	NC_000016.10:g.86851C>T	ExAC,gnomAD
NPRL3	Q12980	p.Arg523His	rs756009039	missense variant	-	NC_000016.10:g.86847C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg523Cys	rs189283988	missense variant	-	NC_000016.10:g.86848G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Met530Thr	RCV000549345	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.86826A>G	ClinVar
NPRL3	Q12980	p.Met530Thr	rs1453118437	missense variant	-	NC_000016.10:g.86826A>G	gnomAD
NPRL3	Q12980	p.Asn532His	rs767536312	missense variant	-	NC_000016.10:g.86821T>G	ExAC,gnomAD
NPRL3	Q12980	p.Asn532Ser	rs371517875	missense variant	-	NC_000016.10:g.86820T>C	ESP,ExAC,gnomAD
NPRL3	Q12980	p.Asn532Lys	rs763597112	missense variant	-	NC_000016.10:g.86819G>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu533Lys	rs1319822209	missense variant	-	NC_000016.10:g.86818C>T	TOPMed
NPRL3	Q12980	p.Thr535Met	rs762391387	missense variant	-	NC_000016.10:g.86811G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg536Trp	rs769327693	missense variant	-	NC_000016.10:g.86809G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg536Gln	rs759994243	missense variant	-	NC_000016.10:g.86808C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg537His	rs771288626	missense variant	-	NC_000016.10:g.86805C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg537Cys	rs776882707	missense variant	-	NC_000016.10:g.86806G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg537Pro	rs771288626	missense variant	-	NC_000016.10:g.86805C>G	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Met542Thr	rs185556688	missense variant	-	NC_000016.10:g.86790A>G	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Met542Thr	RCV000653311	missense variant	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.86790A>G	ClinVar
NPRL3	Q12980	p.Phe544Ser	rs748238757	missense variant	-	NC_000016.10:g.86784A>G	ExAC,gnomAD
NPRL3	Q12980	p.Phe547Leu	rs1043235108	missense variant	-	NC_000016.10:g.86774G>C	gnomAD
NPRL3	Q12980	p.Arg548His	rs367598130	missense variant	-	NC_000016.10:g.86772C>T	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg548Leu	rs367598130	missense variant	-	NC_000016.10:g.86772C>A	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg548Ser	rs193221958	missense variant	-	NC_000016.10:g.86773G>T	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Arg548Cys	rs193221958	missense variant	-	NC_000016.10:g.86773G>A	1000Genomes,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Ser549Arg	rs1191944943	missense variant	-	NC_000016.10:g.86768G>C	TOPMed,gnomAD
NPRL3	Q12980	p.Ser549Gly	rs537555038	missense variant	-	NC_000016.10:g.86770T>C	1000Genomes,gnomAD
NPRL3	Q12980	p.Ser549Arg	rs537555038	missense variant	-	NC_000016.10:g.86770T>G	1000Genomes,gnomAD
NPRL3	Q12980	p.Val550Leu	rs188724206	missense variant	-	NC_000016.10:g.86767C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val550Met	rs188724206	missense variant	-	NC_000016.10:g.86767C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val550Leu	rs188724206	missense variant	-	NC_000016.10:g.86767C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val552Leu	rs1258990698	missense variant	-	NC_000016.10:g.86761C>G	gnomAD
NPRL3	Q12980	p.His556Gln	rs370315887	missense variant	-	NC_000016.10:g.86747G>C	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Glu557Lys	rs764005661	missense variant	-	NC_000016.10:g.86746C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val560Phe	rs752181668	missense variant	-	NC_000016.10:g.86737C>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Val563Ile	rs764756422	missense variant	-	NC_000016.10:g.86728C>T	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Gln565Pro	rs1314801614	missense variant	-	NC_000016.10:g.86721T>G	gnomAD
NPRL3	Q12980	p.Gln565Glu	rs759144182	missense variant	-	NC_000016.10:g.86722G>C	ExAC,gnomAD
NPRL3	Q12980	p.Leu568Phe	rs776279336	missense variant	-	NC_000016.10:g.86713G>A	ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.ProTer569ProUnk	rs756232589	stop lost	-	NC_000016.10:g.86707_86708del	ESP,ExAC,TOPMed,gnomAD
NPRL3	Q12980	p.Pro569Ser	rs1330077450	missense variant	-	NC_000016.10:g.86710G>A	gnomAD
NPRL3	Q12980	p.Ter570Ser	RCV000653296	frameshift	Epilepsy, familial focal, with variable foci 3 (FFEVF3)	NC_000016.10:g.86707_86708del	ClinVar
IFT88	Q13099	p.Phe3Leu	rs1163503730	missense variant	-	NC_000013.11:g.20567985C>G	TOPMed
IFT88	Q13099	p.Phe3Leu	rs1001953284	missense variant	-	NC_000013.11:g.20567983T>C	TOPMed
IFT88	Q13099	p.Thr6Ser	rs1370545708	missense variant	-	NC_000013.11:g.20567993C>G	TOPMed
IFT88	Q13099	p.Thr6Ala	rs374667274	missense variant	-	NC_000013.11:g.20567992A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Met10Val	rs191277814	missense variant	-	NC_000013.11:g.20574386A>G	1000Genomes,ExAC,gnomAD
IFT88	Q13099	p.Gln12Lys	rs1433385295	missense variant	-	NC_000013.11:g.20574392C>A	TOPMed
IFT88	Q13099	p.Val14Met	rs1344092075	missense variant	-	NC_000013.11:g.20574398G>A	TOPMed,gnomAD
IFT88	Q13099	p.His15Gln	rs981925929	missense variant	-	NC_000013.11:g.20574403C>G	TOPMed,gnomAD
IFT88	Q13099	p.Pro18Ser	rs200359008	missense variant	-	NC_000013.11:g.20574410C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Pro18Gln	rs1202887007	missense variant	-	NC_000013.11:g.20574411C>A	gnomAD
IFT88	Q13099	p.Asp21Ala	rs376138318	missense variant	-	NC_000013.11:g.20574420A>C	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu22Asp	rs1202917261	missense variant	-	NC_000013.11:g.20574424A>C	TOPMed
IFT88	Q13099	p.Gly28Ser	rs140680324	missense variant	-	NC_000013.11:g.20574440G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gly28Asp	rs767243368	missense variant	-	NC_000013.11:g.20574441G>A	ExAC
IFT88	Q13099	p.Tyr29Cys	rs1351944278	missense variant	-	NC_000013.11:g.20574444A>G	TOPMed
IFT88	Q13099	p.Tyr29Phe	rs1351944278	missense variant	-	NC_000013.11:g.20574444A>T	TOPMed
IFT88	Q13099	p.Asp31Gly	rs1335394474	missense variant	-	NC_000013.11:g.20574450A>G	TOPMed
IFT88	Q13099	p.Asn33Ser	rs1228511905	missense variant	-	NC_000013.11:g.20574456A>G	TOPMed,gnomAD
IFT88	Q13099	p.Pro34Arg	rs1266505304	missense variant	-	NC_000013.11:g.20574459C>G	gnomAD
IFT88	Q13099	p.Tyr36Cys	rs750818479	missense variant	-	NC_000013.11:g.20574465A>G	ExAC,gnomAD
IFT88	Q13099	p.Tyr36Ser	rs750818479	missense variant	-	NC_000013.11:g.20574465A>C	ExAC,gnomAD
IFT88	Q13099	p.Ile38Thr	rs201009750	missense variant	-	NC_000013.11:g.20574471T>C	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu39Lys	rs754431917	missense variant	-	NC_000013.11:g.20574473G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu39Asp	COSM945881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20574475G>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Glu40Gln	rs773946920	missense variant	-	NC_000013.11:g.20582957G>C	ExAC,gnomAD
IFT88	Q13099	p.Glu40Val	rs138599693	missense variant	-	NC_000013.11:g.20582958A>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu42Lys	rs1048389839	missense variant	-	NC_000013.11:g.20582963G>A	TOPMed,gnomAD
IFT88	Q13099	p.Ala45Thr	rs373899277	missense variant	-	NC_000013.11:g.20582972G>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala46Ser	COSM4046385	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20582975G>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Phe47Leu	rs765932393	missense variant	-	NC_000013.11:g.20582980T>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Val51Met	rs766887846	missense variant	-	NC_000013.11:g.20582990G>A	ExAC,gnomAD
IFT88	Q13099	p.His55Tyr	rs141683155	missense variant	-	NC_000013.11:g.20583002C>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Pro59Thr	rs755529108	missense variant	-	NC_000013.11:g.20583014C>A	ExAC,gnomAD
IFT88	Q13099	p.Pro59Arg	rs779248441	missense variant	-	NC_000013.11:g.20583015C>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Pro60Leu	rs1165671120	missense variant	-	NC_000013.11:g.20583018C>T	gnomAD
IFT88	Q13099	p.Pro60Ser	COSM416418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20583017C>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Thr62Ala	rs753211125	missense variant	-	NC_000013.11:g.20589814A>G	ExAC,gnomAD
IFT88	Q13099	p.Lys64Gln	rs1195697688	missense variant	-	NC_000013.11:g.20589820A>C	TOPMed
IFT88	Q13099	p.Lys64Glu	COSM695832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20589820A>G	NCI-TCGA Cosmic
IFT88	Q13099	p.Thr68Lys	rs375571364	missense variant	-	NC_000013.11:g.20589833C>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Thr68Met	rs375571364	missense variant	-	NC_000013.11:g.20589833C>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala69Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20589835G>A	NCI-TCGA
IFT88	Q13099	p.Thr71Ala	rs751592736	missense variant	-	NC_000013.11:g.20589841A>G	ExAC,gnomAD
IFT88	Q13099	p.Pro73Leu	rs1282180685	missense variant	-	NC_000013.11:g.20589848C>T	TOPMed
IFT88	Q13099	p.Ile74Leu	rs757504073	missense variant	-	NC_000013.11:g.20589850A>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile74Val	rs757504073	missense variant	-	NC_000013.11:g.20589850A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Tyr78Cys	rs933345858	missense variant	-	NC_000013.11:g.20589863A>G	TOPMed
IFT88	Q13099	p.Lys81Thr	rs1452960490	missense variant	-	NC_000013.11:g.20590971A>C	gnomAD
IFT88	Q13099	p.Lys81Glu	rs1488685318	missense variant	-	NC_000013.11:g.20590970A>G	TOPMed
IFT88	Q13099	p.Lys81Asn	COSM432199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20590972G>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Thr82Ile	rs935172901	missense variant	-	NC_000013.11:g.20590974C>T	TOPMed,gnomAD
IFT88	Q13099	p.Ala85Gly	rs1362158346	missense variant	-	NC_000013.11:g.20590983C>G	TOPMed,gnomAD
IFT88	Q13099	p.Ala85Thr	rs138056001	missense variant	-	NC_000013.11:g.20590982G>A	ESP,TOPMed
IFT88	Q13099	p.Ala85Val	rs1362158346	missense variant	-	NC_000013.11:g.20590983C>T	TOPMed,gnomAD
IFT88	Q13099	p.Ser86Leu	rs1038058850	missense variant	-	NC_000013.11:g.20590986C>T	TOPMed
IFT88	Q13099	p.Ile88Val	rs767626107	missense variant	-	NC_000013.11:g.20590991A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile88Thr	rs750673074	missense variant	-	NC_000013.11:g.20590992T>C	ExAC,gnomAD
IFT88	Q13099	p.Gly89Val	rs756326377	missense variant	-	NC_000013.11:g.20590995G>T	ExAC,gnomAD
IFT88	Q13099	p.Pro91Arg	rs758439682	missense variant	-	NC_000013.11:g.20591001C>G	ExAC,gnomAD
IFT88	Q13099	p.Pro91Ser	rs149506260	missense variant	-	NC_000013.11:g.20591000C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Met92Thr	rs1163765795	missense variant	-	NC_000013.11:g.20591004T>C	TOPMed
IFT88	Q13099	p.Met92Val	rs201782733	missense variant	-	NC_000013.11:g.20591003A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Thr93Ala	rs148678288	missense variant	-	NC_000013.11:g.20591006A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Thr93Ile	rs1039606315	missense variant	-	NC_000013.11:g.20591007C>T	TOPMed
IFT88	Q13099	p.Ile96Val	rs780723603	missense variant	-	NC_000013.11:g.20591015A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile96Phe	rs780723603	missense variant	-	NC_000013.11:g.20591015A>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp98His	rs748929005	missense variant	-	NC_000013.11:g.20591618G>C	ExAC,gnomAD
IFT88	Q13099	p.Asp98Val	rs372975558	missense variant	-	NC_000013.11:g.20591619A>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gly99Val	rs774663596	missense variant	-	NC_000013.11:g.20591622G>T	ExAC
IFT88	Q13099	p.Val100Leu	rs762271735	missense variant	-	NC_000013.11:g.20591624G>C	ExAC,gnomAD
IFT88	Q13099	p.Thr101Ser	rs1270395802	missense variant	-	NC_000013.11:g.20591628C>G	gnomAD
IFT88	Q13099	p.Thr101Ile	rs1270395802	missense variant	-	NC_000013.11:g.20591628C>T	gnomAD
IFT88	Q13099	p.Thr101Ala	rs772579820	missense variant	-	NC_000013.11:g.20591627A>G	ExAC,gnomAD
IFT88	Q13099	p.Met104Leu	rs375150650	missense variant	-	NC_000013.11:g.20591636A>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Met104Val	rs375150650	missense variant	-	NC_000013.11:g.20591636A>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gly111Asp	rs1209645668	missense variant	-	NC_000013.11:g.20591658G>A	TOPMed
IFT88	Q13099	p.Phe112Val	rs760740841	missense variant	-	NC_000013.11:g.20591660T>G	ExAC,gnomAD
IFT88	Q13099	p.Lys114Arg	rs766522220	missense variant	-	NC_000013.11:g.20591667A>G	ExAC,gnomAD
IFT88	Q13099	p.Ser120Ala	rs957794500	missense variant	-	NC_000013.11:g.20592337T>G	TOPMed
IFT88	Q13099	p.Ala121Val	rs1391197898	missense variant	-	NC_000013.11:g.20592341C>T	gnomAD
IFT88	Q13099	p.Ala121Thr	rs1444046708	missense variant	-	NC_000013.11:g.20592340G>A	gnomAD
IFT88	Q13099	p.Asp123Glu	rs987900141	missense variant	-	NC_000013.11:g.20592348C>A	TOPMed
IFT88	Q13099	p.Pro124His	rs1454077918	missense variant	-	NC_000013.11:g.20592350C>A	gnomAD
IFT88	Q13099	p.Leu125Phe	rs9315740	missense variant	-	NC_000013.11:g.20592352C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Leu125Arg	rs1478029099	missense variant	-	NC_000013.11:g.20592353T>G	TOPMed,gnomAD
IFT88	Q13099	p.Gln127His	rs771201386	missense variant	-	NC_000013.11:g.20592360G>T	ExAC,gnomAD
IFT88	Q13099	p.Gln127Arg	rs747457589	missense variant	-	NC_000013.11:g.20592359A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser128Leu	rs776831267	missense variant	-	NC_000013.11:g.20592362C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg129Ser	rs759861534	missense variant	-	NC_000013.11:g.20592366G>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Pro131Leu	COSM6074474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20592371C>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Ala132Thr	rs774023811	missense variant	-	NC_000013.11:g.20592373G>A	ExAC,gnomAD
IFT88	Q13099	p.Pro134Ser	rs1360211182	missense variant	-	NC_000013.11:g.20592379C>T	gnomAD
IFT88	Q13099	p.Pro134His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20592380C>A	NCI-TCGA
IFT88	Q13099	p.Pro134Leu	COSM3467622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20592380C>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Leu135Phe	rs761614657	missense variant	-	NC_000013.11:g.20592384G>C	ExAC,gnomAD
IFT88	Q13099	p.Ala137Thr	rs368178391	missense variant	-	NC_000013.11:g.20592388G>A	ESP,gnomAD
IFT88	Q13099	p.Ala137Val	rs1343223052	missense variant	-	NC_000013.11:g.20592389C>T	gnomAD
IFT88	Q13099	p.Lys139Glu	rs767205880	missense variant	-	NC_000013.11:g.20592394A>G	ExAC,gnomAD
IFT88	Q13099	p.Lys139Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20592396A>C	NCI-TCGA
IFT88	Q13099	p.Asp141Val	rs755978996	missense variant	-	NC_000013.11:g.20592401A>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp141ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.20592393_20592394insA	NCI-TCGA
IFT88	Q13099	p.Asp141Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20592400G>T	NCI-TCGA
IFT88	Q13099	p.Asp141Gly	rs755978996	missense variant	-	NC_000013.11:g.20592401A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp141His	COSM6074473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20592400G>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Glu144Ala	rs1237703855	missense variant	-	NC_000013.11:g.20596155A>C	gnomAD
IFT88	Q13099	p.Glu145Lys	rs764712905	missense variant	-	NC_000013.11:g.20596157G>A	ExAC,gnomAD
IFT88	Q13099	p.Ile147Val	rs752463134	missense variant	-	NC_000013.11:g.20596163A>G	ExAC,gnomAD
IFT88	Q13099	p.Ile147Ter	COSM1562350	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20596158A>-	NCI-TCGA Cosmic
IFT88	Q13099	p.Lys148Ter	rs368880394	stop gained	-	NC_000013.11:g.20596166A>T	ESP,ExAC,gnomAD
IFT88	Q13099	p.Glu151Gly	rs1392469366	missense variant	-	NC_000013.11:g.20596176A>G	gnomAD
IFT88	Q13099	p.Lys152Arg	rs1007504839	missense variant	-	NC_000013.11:g.20596179A>G	TOPMed,gnomAD
IFT88	Q13099	p.Glu153Asp	rs751830530	missense variant	-	NC_000013.11:g.20596183A>C	ExAC,gnomAD
IFT88	Q13099	p.Asn155His	COSM945883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20596187A>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Glu156Asp	rs1310488492	missense variant	-	NC_000013.11:g.20596192G>T	gnomAD
IFT88	Q13099	p.Val158Leu	rs1339586608	missense variant	-	NC_000013.11:g.20596196G>T	gnomAD
IFT88	Q13099	p.Glu160Gln	rs139866950	missense variant	-	NC_000013.11:g.20596202G>C	ESP,ExAC,gnomAD
IFT88	Q13099	p.Glu160Gly	rs770062711	missense variant	-	NC_000013.11:g.20596203A>G	ExAC,gnomAD
IFT88	Q13099	p.Glu160Ter	rs139866950	stop gained	-	NC_000013.11:g.20596202G>T	ESP,ExAC,gnomAD
IFT88	Q13099	p.Ser161Asn	rs1461379158	missense variant	-	NC_000013.11:g.20596206G>A	TOPMed
IFT88	Q13099	p.Cys162Tyr	rs779962847	missense variant	-	NC_000013.11:g.20596209G>A	ExAC,gnomAD
IFT88	Q13099	p.Asn165Ser	rs768714968	missense variant	-	NC_000013.11:g.20596218A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp169Ala	rs1458276396	missense variant	-	NC_000013.11:g.20596230A>C	gnomAD
IFT88	Q13099	p.Lys171Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20596236A>C	NCI-TCGA
IFT88	Q13099	p.Leu172Phe	rs1226023412	missense variant	-	NC_000013.11:g.20596240G>T	TOPMed
IFT88	Q13099	p.Lys178Glu	rs1230363908	missense variant	-	NC_000013.11:g.20597030A>G	gnomAD
IFT88	Q13099	p.Arg182Ser	rs748358611	missense variant	-	NC_000013.11:g.20597044A>T	ExAC,gnomAD
IFT88	Q13099	p.Glu184Ter	rs1365903518	stop gained	-	NC_000013.11:g.20597048G>T	TOPMed
IFT88	Q13099	p.Val186GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.20597046_20597047insAG	NCI-TCGA
IFT88	Q13099	p.Gln190Leu	COSM6074472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20597067A>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Arg191Gln	rs1334526219	missense variant	-	NC_000013.11:g.20597070G>A	TOPMed,gnomAD
IFT88	Q13099	p.Arg191Ter	rs772604977	stop gained	-	NC_000013.11:g.20597069C>T	gnomAD
IFT88	Q13099	p.Gln193His	rs776380570	missense variant	-	NC_000013.11:g.20597077A>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Val194Ile	rs1299266664	missense variant	-	NC_000013.11:g.20597078G>A	gnomAD
IFT88	Q13099	p.Val194Ala	rs1292484017	missense variant	-	NC_000013.11:g.20597079T>C	gnomAD
IFT88	Q13099	p.Thr195Ile	rs1311746167	missense variant	-	NC_000013.11:g.20597082C>T	gnomAD
IFT88	Q13099	p.Thr196Ile	rs769577868	missense variant	-	NC_000013.11:g.20597085C>T	ExAC,gnomAD
IFT88	Q13099	p.Thr196Ala	rs759519229	missense variant	-	NC_000013.11:g.20597084A>G	ExAC,gnomAD
IFT88	Q13099	p.Glu198ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.20597088_20597089insT	NCI-TCGA
IFT88	Q13099	p.Glu198Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.20597090G>T	NCI-TCGA
IFT88	Q13099	p.Asn199Thr	rs762310389	missense variant	-	NC_000013.11:g.20597094A>C	ExAC
IFT88	Q13099	p.Asn199Asp	rs1216377741	missense variant	-	NC_000013.11:g.20597093A>G	gnomAD
IFT88	Q13099	p.Asn199Ser	rs762310389	missense variant	-	NC_000013.11:g.20597094A>G	ExAC
IFT88	Q13099	p.Ile200Thr	rs763645388	missense variant	-	NC_000013.11:g.20597097T>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn201Ser	rs1267403698	missense variant	-	NC_000013.11:g.20597100A>G	TOPMed
IFT88	Q13099	p.Ser207Ala	rs774211111	missense variant	-	NC_000013.11:g.20597117T>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Val208Leu	rs1448958303	missense variant	-	NC_000013.11:g.20598651G>C	TOPMed
IFT88	Q13099	p.Leu209Phe	rs563944253	missense variant	-	NC_000013.11:g.20598654C>T	1000Genomes,ExAC,gnomAD
IFT88	Q13099	p.Leu209Val	rs563944253	missense variant	-	NC_000013.11:g.20598654C>G	1000Genomes,ExAC,gnomAD
IFT88	Q13099	p.Phe210Ser	rs775345911	missense variant	-	NC_000013.11:g.20598658T>C	ExAC,gnomAD
IFT88	Q13099	p.Phe210Leu	rs1162881262	missense variant	-	NC_000013.11:g.20598657T>C	gnomAD
IFT88	Q13099	p.Asn211Ser	rs147688662	missense variant	-	NC_000013.11:g.20598661A>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala213Thr	rs768089063	missense variant	-	NC_000013.11:g.20598666G>A	ExAC,gnomAD
IFT88	Q13099	p.Ser214Thr	rs1375923038	missense variant	-	NC_000013.11:g.20598670G>C	gnomAD
IFT88	Q13099	p.Ser214Gly	rs79793487	missense variant	-	NC_000013.11:g.20598669A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gln215Ter	rs1226996358	stop gained	-	NC_000013.11:g.20598672C>T	gnomAD
IFT88	Q13099	p.Gln215Arg	rs375660619	missense variant	-	NC_000013.11:g.20598673A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gln215His	COSM272074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20598674G>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Ser217Ala	rs773720756	missense variant	-	NC_000013.11:g.20598678T>G	ExAC,gnomAD
IFT88	Q13099	p.Val218Ile	rs1255600604	missense variant	-	NC_000013.11:g.20598681G>A	TOPMed,gnomAD
IFT88	Q13099	p.Val218Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20598681G>T	NCI-TCGA
IFT88	Q13099	p.Asn219Ser	rs1214047740	missense variant	-	NC_000013.11:g.20598685A>G	TOPMed
IFT88	Q13099	p.Glu220Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.20598687G>T	NCI-TCGA
IFT88	Q13099	p.Met221Val	COSM695830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20598690A>G	NCI-TCGA Cosmic
IFT88	Q13099	p.Met221Ile	rs760893377	missense variant	-	NC_000013.11:g.20598692G>A	ExAC,gnomAD
IFT88	Q13099	p.Tyr222Cys	rs925342211	missense variant	-	NC_000013.11:g.20598694A>G	gnomAD
IFT88	Q13099	p.Ala223Val	rs766755396	missense variant	-	NC_000013.11:g.20598697C>T	ExAC,gnomAD
IFT88	Q13099	p.Glu224Lys	rs370019363	missense variant	-	NC_000013.11:g.20598699G>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu224Lys	rs370019363	missense variant	-	NC_000013.11:g.20598699G>A	NCI-TCGA
IFT88	Q13099	p.Ala225Thr	rs765350470	missense variant	-	NC_000013.11:g.20598702G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Thr228Ala	rs1049692644	missense variant	-	NC_000013.11:g.20598711A>G	TOPMed
IFT88	Q13099	p.Gln230His	rs142815394	missense variant	-	NC_000013.11:g.20598719A>C	1000Genomes
IFT88	Q13099	p.Gln230Glu	rs1392662112	missense variant	-	NC_000013.11:g.20598717C>G	TOPMed,gnomAD
IFT88	Q13099	p.Val231Ile	rs752725491	missense variant	-	NC_000013.11:g.20598720G>A	ExAC,gnomAD
IFT88	Q13099	p.Ile232Val	rs1484408923	missense variant	-	NC_000013.11:g.20598723A>G	TOPMed
IFT88	Q13099	p.Ile232Met	rs758623992	missense variant	-	NC_000013.11:g.20598725A>G	ExAC,gnomAD
IFT88	Q13099	p.Ile232Thr	rs1167381896	missense variant	-	NC_000013.11:g.20598724T>C	TOPMed,gnomAD
IFT88	Q13099	p.Val233Ile	rs1405784549	missense variant	-	NC_000013.11:g.20598726G>A	gnomAD
IFT88	Q13099	p.Lys234Gln	rs1332585722	missense variant	-	NC_000013.11:g.20598729A>C	gnomAD
IFT88	Q13099	p.Asn235His	rs1356756446	missense variant	-	NC_000013.11:g.20598732A>C	gnomAD
IFT88	Q13099	p.Met237Thr	rs149818223	missense variant	-	NC_000013.11:g.20598739T>C	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Met237Arg	rs149818223	missense variant	-	NC_000013.11:g.20598739T>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Phe238Leu	COSM945884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20598741T>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Asn240Ser	rs747240431	missense variant	-	NC_000013.11:g.20598748A>G	ExAC,gnomAD
IFT88	Q13099	p.Ala241Thr	rs755927859	missense variant	-	NC_000013.11:g.20598750G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile243Val	rs1214139987	missense variant	-	NC_000013.11:g.20599453A>G	gnomAD
IFT88	Q13099	p.Met246Thr	rs1271303153	missense variant	-	NC_000013.11:g.20599463T>C	gnomAD
IFT88	Q13099	p.Met248Val	rs201076403	missense variant	-	NC_000013.11:g.20599468A>G	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile251Thr	rs1042639661	missense variant	-	NC_000013.11:g.20599478T>C	TOPMed,gnomAD
IFT88	Q13099	p.Tyr252Asp	rs1251939595	missense variant	-	NC_000013.11:g.20599480T>G	gnomAD
IFT88	Q13099	p.Tyr252Cys	rs1243849210	missense variant	-	NC_000013.11:g.20599481A>G	gnomAD
IFT88	Q13099	p.Leu253Ter	rs1286343838	stop gained	-	NC_000013.11:g.20599484T>G	TOPMed
IFT88	Q13099	p.Lys254Arg	rs1477088140	missense variant	-	NC_000013.11:g.20599487A>G	gnomAD
IFT88	Q13099	p.Arg256Ile	rs1474573713	missense variant	-	NC_000013.11:g.20599493G>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Arg256Ile	rs1474573713	missense variant	-	NC_000013.11:g.20599493G>T	gnomAD
IFT88	Q13099	p.Arg256Ser	COSM945885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20599494A>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Ala261Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20599507G>A	NCI-TCGA
IFT88	Q13099	p.Ile262Val	rs1172455518	missense variant	-	NC_000013.11:g.20599510A>G	gnomAD
IFT88	Q13099	p.Lys263Arg	rs1297131976	missense variant	-	NC_000013.11:g.20599514A>G	TOPMed
IFT88	Q13099	p.Tyr265Cys	rs1396243224	missense variant	-	NC_000013.11:g.20599520A>G	gnomAD
IFT88	Q13099	p.Arg266Gln	rs199610348	missense variant	-	NC_000013.11:g.20599523G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg266Ter	rs145868877	stop gained	-	NC_000013.11:g.20599522C>T	ESP,ExAC,gnomAD
IFT88	Q13099	p.Arg266Gln	rs199610348	missense variant	-	NC_000013.11:g.20599523G>A	NCI-TCGA,NCI-TCGA Cosmic
IFT88	Q13099	p.Leu269Ser	rs748087750	missense variant	-	NC_000013.11:g.20599532T>C	ExAC
IFT88	Q13099	p.Asp270Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20599534G>T	NCI-TCGA
IFT88	Q13099	p.Gln271Ter	rs771777604	stop gained	-	NC_000013.11:g.20599537C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Pro273Ala	rs1319897470	missense variant	-	NC_000013.11:g.20599543C>G	gnomAD
IFT88	Q13099	p.Pro273Leu	rs777308583	missense variant	-	NC_000013.11:g.20599544C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser274Thr	rs1274972388	missense variant	-	NC_000013.11:g.20599547G>C	gnomAD
IFT88	Q13099	p.Ser274Gly	rs1435174536	missense variant	-	NC_000013.11:g.20599546A>G	gnomAD
IFT88	Q13099	p.Ser274Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20599546A>C	NCI-TCGA
IFT88	Q13099	p.Asn276Lys	rs746691205	missense variant	-	NC_000013.11:g.20599554T>G	ExAC,gnomAD
IFT88	Q13099	p.Asn276Ser	rs1431565647	missense variant	-	NC_000013.11:g.20599553A>G	gnomAD
IFT88	Q13099	p.Lys277Arg	rs1237942932	missense variant	-	NC_000013.11:g.20599556A>G	gnomAD
IFT88	Q13099	p.Met279Ile	rs1354157265	missense variant	-	NC_000013.11:g.20599563G>A	gnomAD
IFT88	Q13099	p.Met279Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20599563G>T	NCI-TCGA
IFT88	Q13099	p.Lys282Thr	rs200419751	missense variant	-	NC_000013.11:g.20601710A>C	1000Genomes,ExAC,gnomAD
IFT88	Q13099	p.Lys282Glu	rs754882392	missense variant	-	NC_000013.11:g.20601709A>G	ExAC,gnomAD
IFT88	Q13099	p.Ile283Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20601712A>G	NCI-TCGA
IFT88	Q13099	p.Asn286Ser	rs1226958823	missense variant	-	NC_000013.11:g.20601722A>G	gnomAD
IFT88	Q13099	p.Gly288Arg	rs752724237	missense variant	-	NC_000013.11:g.20601727G>A	ExAC,gnomAD
IFT88	Q13099	p.Gly288Glu	rs1377298049	missense variant	-	NC_000013.11:g.20601728G>A	TOPMed,gnomAD
IFT88	Q13099	p.Gln293Ter	rs1466602621	stop gained	-	NC_000013.11:g.20601742C>T	TOPMed
IFT88	Q13099	p.Gly295Ser	rs777172610	missense variant	-	NC_000013.11:g.20601748G>A	ExAC,gnomAD
IFT88	Q13099	p.Gly295Cys	rs777172610	missense variant	-	NC_000013.11:g.20601748G>T	ExAC,gnomAD
IFT88	Q13099	p.Gln296Ter	COSM1300059	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20601751C>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Tyr297Phe	rs1269198666	missense variant	-	NC_000013.11:g.20601755A>T	TOPMed
IFT88	Q13099	p.Ser298Leu	rs770503048	missense variant	-	NC_000013.11:g.20601758C>T	ExAC,gnomAD
IFT88	Q13099	p.Asp299Gly	rs1273881473	missense variant	-	NC_000013.11:g.20601761A>G	gnomAD
IFT88	Q13099	p.Ile301Val	rs549484080	missense variant	-	NC_000013.11:g.20601766A>G	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn302Ser	rs771449493	missense variant	-	NC_000013.11:g.20601770A>G	ExAC,gnomAD
IFT88	Q13099	p.Ser303Leu	rs770183666	missense variant	-	NC_000013.11:g.20601773C>T	ExAC,gnomAD
IFT88	Q13099	p.Glu305Asp	rs749816231	missense variant	-	NC_000013.11:g.20601780G>C	ExAC,gnomAD
IFT88	Q13099	p.Glu305Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20601779A>G	NCI-TCGA
IFT88	Q13099	p.Ile307Val	rs769108016	missense variant	-	NC_000013.11:g.20601784A>G	ExAC,gnomAD
IFT88	Q13099	p.Met308Thr	rs761898923	missense variant	-	NC_000013.11:g.20601788T>C	ExAC,gnomAD
IFT88	Q13099	p.Met308Val	rs774295812	missense variant	-	NC_000013.11:g.20601787A>G	ExAC,gnomAD
IFT88	Q13099	p.Ser309Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20601791G>A	NCI-TCGA
IFT88	Q13099	p.Met310Val	rs1330543877	missense variant	-	NC_000013.11:g.20601793A>G	gnomAD
IFT88	Q13099	p.Ala311Ser	rs1397086115	missense variant	-	NC_000013.11:g.20601796G>T	gnomAD
IFT88	Q13099	p.Pro312Leu	rs773552521	missense variant	-	NC_000013.11:g.20601800C>T	ExAC,gnomAD
IFT88	Q13099	p.Asn313Ser	rs571225869	missense variant	-	NC_000013.11:g.20601803A>G	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn313Thr	rs571225869	missense variant	-	NC_000013.11:g.20601803A>C	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Leu314Gln	rs1390692168	missense variant	-	NC_000013.11:g.20601806T>A	TOPMed
IFT88	Q13099	p.Leu314Met	rs1428577956	missense variant	-	NC_000013.11:g.20601805C>A	TOPMed
IFT88	Q13099	p.Ala316Ser	rs752493211	missense variant	-	NC_000013.11:g.20601811G>T	ExAC,gnomAD
IFT88	Q13099	p.Gly317Ala	rs1294162176	missense variant	-	NC_000013.11:g.20601815G>C	gnomAD
IFT88	Q13099	p.Tyr318Cys	rs377583644	missense variant	-	NC_000013.11:g.20601818A>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn319His	rs764026782	missense variant	-	NC_000013.11:g.20601820A>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn319Asp	rs764026782	missense variant	-	NC_000013.11:g.20601820A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn319Ser	rs1167224683	missense variant	-	NC_000013.11:g.20601821A>G	TOPMed
IFT88	Q13099	p.Ile322Ser	rs1188159483	missense variant	-	NC_000013.11:g.20601830T>G	gnomAD
IFT88	Q13099	p.Ile322Val	rs148997004	missense variant	-	NC_000013.11:g.20601829A>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Tyr324Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20601836A>G	NCI-TCGA
IFT88	Q13099	p.Phe325Cys	rs1419612144	missense variant	-	NC_000013.11:g.20601839T>G	gnomAD
IFT88	Q13099	p.Phe325Leu	rs1476658538	missense variant	-	NC_000013.11:g.20601840T>G	gnomAD
IFT88	Q13099	p.Ile327Val	rs1169315885	missense variant	-	NC_000013.11:g.20601844A>G	gnomAD
IFT88	Q13099	p.Gly328Glu	rs1373202233	missense variant	-	NC_000013.11:g.20601848G>A	gnomAD
IFT88	Q13099	p.Arg330Gln	rs775253163	missense variant	-	NC_000013.11:g.20601854G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg330Ter	rs1463455191	stop gained	-	NC_000013.11:g.20601853C>T	TOPMed,gnomAD
IFT88	Q13099	p.Ala336Thr	rs943321085	missense variant	-	NC_000013.11:g.20601871G>A	gnomAD
IFT88	Q13099	p.Ala336Pro	rs943321085	missense variant	-	NC_000013.11:g.20601871G>C	gnomAD
IFT88	Q13099	p.Leu340Met	rs755711708	missense variant	-	NC_000013.11:g.20601883T>A	ExAC,gnomAD
IFT88	Q13099	p.Leu340Trp	rs1230188894	missense variant	-	NC_000013.11:g.20601884T>G	gnomAD
IFT88	Q13099	p.Leu340Phe	rs780425667	missense variant	-	NC_000013.11:g.20601885G>T	ExAC,gnomAD
IFT88	Q13099	p.Leu340Phe	COSM3813532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20601885G>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Ile341Thr	rs1025019015	missense variant	-	NC_000013.11:g.20601887T>C	TOPMed
IFT88	Q13099	p.Ile341Val	rs1344701969	missense variant	-	NC_000013.11:g.20601886A>G	gnomAD
IFT88	Q13099	p.Ile341Met	rs1193539634	missense variant	-	NC_000013.11:g.20601888T>G	TOPMed
IFT88	Q13099	p.Thr342Ser	rs749583396	missense variant	-	NC_000013.11:g.20601890C>G	ExAC,gnomAD
IFT88	Q13099	p.Thr342Ile	rs749583396	missense variant	-	NC_000013.11:g.20601890C>T	ExAC,gnomAD
IFT88	Q13099	p.Val343Leu	rs1260113585	missense variant	-	NC_000013.11:g.20601892G>C	gnomAD
IFT88	Q13099	p.Pro344Ala	rs774983378	missense variant	-	NC_000013.11:g.20601895C>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Pro344Ser	rs774983378	missense variant	-	NC_000013.11:g.20601895C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu346Ter	rs1192566331	stop gained	-	NC_000013.11:g.20601901G>T	gnomAD
IFT88	Q13099	p.Glu346Ala	rs1261727627	missense variant	-	NC_000013.11:g.20601902A>C	gnomAD
IFT88	Q13099	p.Asp348Asn	rs748602362	missense variant	-	NC_000013.11:g.20601907G>A	ExAC,gnomAD
IFT88	Q13099	p.Asp350Val	rs761002503	missense variant	-	NC_000013.11:g.20601914A>T	ExAC,gnomAD
IFT88	Q13099	p.Asp350Glu	rs1175272198	missense variant	-	NC_000013.11:g.20601915T>A	gnomAD
IFT88	Q13099	p.Asp350Gly	rs761002503	missense variant	-	NC_000013.11:g.20601914A>G	ExAC,gnomAD
IFT88	Q13099	p.Asp350Tyr	rs773406317	missense variant	-	NC_000013.11:g.20601913G>T	ExAC,gnomAD
IFT88	Q13099	p.Ile353Asn	rs1002324527	missense variant	-	NC_000013.11:g.20601923T>A	TOPMed
IFT88	Q13099	p.Ile353Ser	COSM945887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20601923T>G	NCI-TCGA Cosmic
IFT88	Q13099	p.Ser354Leu	rs766670349	missense variant	-	NC_000013.11:g.20601926C>T	ExAC,gnomAD
IFT88	Q13099	p.Pro355Thr	rs371180374	missense variant	-	NC_000013.11:g.20601928C>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Pro355Leu	rs538922747	missense variant	-	NC_000013.11:g.20601929C>T	1000Genomes,ExAC,gnomAD
IFT88	Q13099	p.Pro355Ser	rs371180374	missense variant	-	NC_000013.11:g.20601928C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser356Asn	rs182766679	missense variant	-	NC_000013.11:g.20601932G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp357Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20605035G>A	NCI-TCGA
IFT88	Q13099	p.His360Tyr	rs759645619	missense variant	-	NC_000013.11:g.20605044C>T	ExAC,gnomAD
IFT88	Q13099	p.Thr361Ala	rs1468552090	missense variant	-	NC_000013.11:g.20605047A>G	TOPMed,gnomAD
IFT88	Q13099	p.Asn362Asp	rs1215437675	missense variant	-	NC_000013.11:g.20605050A>G	gnomAD
IFT88	Q13099	p.Glu366Asp	rs768542720	missense variant	-	NC_000013.11:g.20605064A>C	ExAC,gnomAD
IFT88	Q13099	p.Ala367Thr	rs1304225975	missense variant	-	NC_000013.11:g.20605065G>A	TOPMed
IFT88	Q13099	p.Ile368Lys	rs761837934	missense variant	-	NC_000013.11:g.20605069T>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile368Val	rs773966898	missense variant	-	NC_000013.11:g.20605068A>G	ExAC,gnomAD
IFT88	Q13099	p.Asp371Asn	rs1177543594	missense variant	-	NC_000013.11:g.20605077G>A	gnomAD
IFT88	Q13099	p.His372Gln	rs767373782	missense variant	-	NC_000013.11:g.20605082C>G	ExAC,gnomAD
IFT88	Q13099	p.Leu373Val	rs772217175	missense variant	-	NC_000013.11:g.20605083C>G	TOPMed
IFT88	Q13099	p.Leu373Phe	rs772217175	missense variant	-	NC_000013.11:g.20605083C>T	TOPMed
IFT88	Q13099	p.Gln375Arg	rs749944804	missense variant	-	NC_000013.11:g.20605090A>G	ExAC,gnomAD
IFT88	Q13099	p.Gln375Ter	rs1003345707	stop gained	-	NC_000013.11:g.20605089C>T	TOPMed
IFT88	Q13099	p.Met376Thr	rs760232648	missense variant	-	NC_000013.11:g.20605093T>C	ExAC,gnomAD
IFT88	Q13099	p.Glu377Ala	rs765872691	missense variant	-	NC_000013.11:g.20605096A>C	ExAC,gnomAD
IFT88	Q13099	p.Arg378Ser	rs753533472	missense variant	-	NC_000013.11:g.20605098C>A	ExAC,gnomAD
IFT88	Q13099	p.Arg378His	rs187354596	missense variant	-	NC_000013.11:g.20605099G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Met383Ile	rs2442455	missense variant	-	NC_000013.11:g.20615802G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Met383Lys	rs200168455	missense variant	-	NC_000013.11:g.20615801T>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Met383Ile	RCV000455077	missense variant	-	NC_000013.11:g.20615802G>A	ClinVar
IFT88	Q13099	p.Ala384Val	rs781452341	missense variant	-	NC_000013.11:g.20615804C>T	ExAC,gnomAD
IFT88	Q13099	p.Ala384Glu	rs781452341	missense variant	-	NC_000013.11:g.20615804C>A	ExAC,gnomAD
IFT88	Q13099	p.Lys386Arg	rs1005036481	missense variant	-	NC_000013.11:g.20615810A>G	TOPMed
IFT88	Q13099	p.Tyr387Asn	rs1168357808	missense variant	-	NC_000013.11:g.20615812T>A	TOPMed
IFT88	Q13099	p.Ile388Phe	rs17856890	missense variant	-	NC_000013.11:g.20615815A>T	TOPMed,gnomAD
IFT88	Q13099	p.Ile388Val	rs17856890	missense variant	-	NC_000013.11:g.20615815A>G	TOPMed,gnomAD
IFT88	Q13099	p.Thr390Ile	rs756369243	missense variant	-	NC_000013.11:g.20615822C>T	ExAC,gnomAD
IFT88	Q13099	p.Ala392Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20615828C>A	NCI-TCGA
IFT88	Q13099	p.Ala392Ser	rs1325301474	missense variant	-	NC_000013.11:g.20615827G>T	gnomAD
IFT88	Q13099	p.Ile395Thr	rs367557180	missense variant	-	NC_000013.11:g.20615837T>C	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile395Asn	rs367557180	missense variant	-	NC_000013.11:g.20615837T>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile395Val	rs1430865345	missense variant	-	NC_000013.11:g.20615836A>G	gnomAD
IFT88	Q13099	p.Ala396Pro	rs749518522	missense variant	-	NC_000013.11:g.20615839G>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala396Thr	rs749518522	missense variant	-	NC_000013.11:g.20615839G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala396Asp	COSM3384758	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20615840C>A	NCI-TCGA Cosmic
IFT88	Q13099	p.Pro397Ser	rs1255279844	missense variant	-	NC_000013.11:g.20615842C>T	TOPMed
IFT88	Q13099	p.Val398Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20615846T>G	NCI-TCGA
IFT88	Q13099	p.Ile399Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20615849T>A	NCI-TCGA
IFT88	Q13099	p.Thr401Ile	rs771896937	missense variant	-	NC_000013.11:g.20615855C>T	ExAC,gnomAD
IFT88	Q13099	p.Ala405Thr	rs746974451	missense variant	-	NC_000013.11:g.20615866G>A	ExAC,gnomAD
IFT88	Q13099	p.Ala405Ser	rs746974451	missense variant	-	NC_000013.11:g.20615866G>T	ExAC,gnomAD
IFT88	Q13099	p.Tyr407Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20615873A>G	NCI-TCGA
IFT88	Q13099	p.Asp408Glu	rs145383209	missense variant	-	NC_000013.11:g.20615877T>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Trp409Ter	rs1243972221	stop gained	-	NC_000013.11:g.20615879G>A	gnomAD
IFT88	Q13099	p.Cys410Tyr	rs1326049842	missense variant	-	NC_000013.11:g.20625752G>A	gnomAD
IFT88	Q13099	p.Val411Met	rs774865616	missense variant	-	NC_000013.11:g.20625754G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Val414Leu	rs137918809	missense variant	-	NC_000013.11:g.20625763G>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Val414Met	rs137918809	missense variant	-	NC_000013.11:g.20625763G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala416Gly	rs1281509940	missense variant	-	NC_000013.11:g.20625770C>G	gnomAD
IFT88	Q13099	p.Ser417Cys	rs941518598	missense variant	-	NC_000013.11:g.20625773C>G	TOPMed,gnomAD
IFT88	Q13099	p.Ser417Thr	rs1482059434	missense variant	-	NC_000013.11:g.20625772T>A	TOPMed
IFT88	Q13099	p.Ser417Phe	rs941518598	missense variant	-	NC_000013.11:g.20625773C>T	TOPMed,gnomAD
IFT88	Q13099	p.Val420Gly	rs1196263503	missense variant	-	NC_000013.11:g.20625782T>G	TOPMed
IFT88	Q13099	p.Glu421Ter	rs753880151	stop gained	-	NC_000013.11:g.20625784G>T	ExAC,gnomAD
IFT88	Q13099	p.Ala423Gly	rs367967021	missense variant	-	NC_000013.11:g.20625791C>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn424Ser	rs752903332	missense variant	-	NC_000013.11:g.20625794A>G	ExAC,gnomAD
IFT88	Q13099	p.Asp425Glu	rs1225586483	missense variant	-	NC_000013.11:g.20625798T>G	TOPMed
IFT88	Q13099	p.Leu426Val	rs1180197132	missense variant	-	NC_000013.11:g.20625799C>G	gnomAD
IFT88	Q13099	p.Glu427Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20625802G>C	NCI-TCGA
IFT88	Q13099	p.Ala431Thr	rs1474706850	missense variant	-	NC_000013.11:g.20625814G>A	gnomAD
IFT88	Q13099	p.Val432Ile	rs757112173	missense variant	-	NC_000013.11:g.20625817G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Val432Leu	COSM6138976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20625817G>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Thr433Lys	rs781011717	missense variant	-	NC_000013.11:g.20625821C>A	ExAC,gnomAD
IFT88	Q13099	p.Thr433Ala	rs1419478931	missense variant	-	NC_000013.11:g.20625820A>G	gnomAD
IFT88	Q13099	p.Gln437Arg	rs1473050785	missense variant	-	NC_000013.11:g.20625833A>G	TOPMed,gnomAD
IFT88	Q13099	p.Lys438Glu	rs1396877480	missense variant	-	NC_000013.11:g.20625835A>G	gnomAD
IFT88	Q13099	p.Asp439Asn	rs1310885063	missense variant	-	NC_000013.11:g.20625838G>A	gnomAD
IFT88	Q13099	p.TyrAsn440Ter	rs1353772652	stop gained	-	NC_000013.11:g.20625843_20625844del	gnomAD
IFT88	Q13099	p.Ala443Val	rs749228909	missense variant	-	NC_000013.11:g.20631017C>T	ExAC,gnomAD
IFT88	Q13099	p.Val444Ile	rs768319283	missense variant	-	NC_000013.11:g.20631019G>A	ExAC,gnomAD
IFT88	Q13099	p.Val444Leu	rs768319283	missense variant	-	NC_000013.11:g.20631019G>T	ExAC,gnomAD
IFT88	Q13099	p.Glu445Asp	COSM469234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20631024G>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Ile446Leu	rs747827799	missense variant	-	NC_000013.11:g.20631025A>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Leu447Ile	rs373316646	missense variant	-	NC_000013.11:g.20631028T>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu451Gly	rs547326608	missense variant	-	NC_000013.11:g.20631041A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu451Ala	rs547326608	missense variant	-	NC_000013.11:g.20631041A>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Lys453Arg	rs899601188	missense variant	-	NC_000013.11:g.20631047A>G	-
IFT88	Q13099	p.Lys453ArgPheSerTerUnk	COSM1365755	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20631041A>-	NCI-TCGA Cosmic
IFT88	Q13099	p.Asp454His	rs1454574170	missense variant	-	NC_000013.11:g.20631049G>C	TOPMed,gnomAD
IFT88	Q13099	p.Ser455Asn	rs9509307	missense variant	-	NC_000013.11:g.20631053G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser455Asn	RCV000454792	missense variant	-	NC_000013.11:g.20631053G>A	ClinVar
IFT88	Q13099	p.Arg456Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20631056G>C	NCI-TCGA
IFT88	Q13099	p.Arg456Gly	COSM269352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20631055A>G	NCI-TCGA Cosmic
IFT88	Q13099	p.Val457Met	rs777188849	missense variant	-	NC_000013.11:g.20631058G>A	ExAC,gnomAD
IFT88	Q13099	p.Ser459Cys	rs760007756	missense variant	-	NC_000013.11:g.20631064A>T	ExAC,gnomAD
IFT88	Q13099	p.Ser459Arg	rs765352147	missense variant	-	NC_000013.11:g.20631066T>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala460Val	rs1437825988	missense variant	-	NC_000013.11:g.20631068C>T	gnomAD
IFT88	Q13099	p.Ala461Pro	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20631070G>C	NCI-TCGA
IFT88	Q13099	p.Ala462Ser	COSM6138975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20631073G>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Thr463Ile	rs1250560512	missense variant	-	NC_000013.11:g.20631077C>T	TOPMed
IFT88	Q13099	p.Thr463Ala	rs764319985	missense variant	-	NC_000013.11:g.20631076A>G	ExAC,gnomAD
IFT88	Q13099	p.Asn464His	rs1303926913	missense variant	-	NC_000013.11:g.20631079A>C	gnomAD
IFT88	Q13099	p.Asn464Ser	rs1314751217	missense variant	-	NC_000013.11:g.20631080A>G	TOPMed,gnomAD
IFT88	Q13099	p.Ala467Val	rs751716540	missense variant	-	NC_000013.11:g.20631089C>T	ExAC,gnomAD
IFT88	Q13099	p.Tyr470Cys	rs766242235	missense variant	-	NC_000013.11:g.20631098A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Met471Val	rs753871853	missense variant	-	NC_000013.11:g.20631100A>G	ExAC,TOPMed
IFT88	Q13099	p.Lys473Glu	rs1252488333	missense variant	-	NC_000013.11:g.20638335A>G	TOPMed
IFT88	Q13099	p.Phe475Leu	rs752567355	missense variant	-	NC_000013.11:g.20638343T>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala476Thr	rs1270829941	missense variant	-	NC_000013.11:g.20638344G>A	gnomAD
IFT88	Q13099	p.Ala476Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20638345C>T	NCI-TCGA
IFT88	Q13099	p.Ser480Asn	rs777117502	missense variant	-	NC_000013.11:g.20638357G>A	ExAC,gnomAD
IFT88	Q13099	p.Ser480Gly	rs1228085479	missense variant	-	NC_000013.11:g.20638356A>G	TOPMed
IFT88	Q13099	p.Tyr481Cys	rs746725002	missense variant	-	NC_000013.11:g.20638360A>G	ExAC,gnomAD
IFT88	Q13099	p.Ala482Thr	rs1484155950	missense variant	-	NC_000013.11:g.20638362G>A	gnomAD
IFT88	Q13099	p.Asp483Val	rs756856359	missense variant	-	NC_000013.11:g.20638366A>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp483His	rs138582529	missense variant	-	NC_000013.11:g.20638365G>C	ESP,TOPMed,gnomAD
IFT88	Q13099	p.Asp483Tyr	rs138582529	missense variant	-	NC_000013.11:g.20638365G>T	ESP,TOPMed,gnomAD
IFT88	Q13099	p.Ile484Met	rs746171601	missense variant	-	NC_000013.11:g.20638370A>G	ExAC,gnomAD
IFT88	Q13099	p.Ile484Arg	rs369442351	missense variant	-	NC_000013.11:g.20638369T>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile484Thr	rs369442351	missense variant	-	NC_000013.11:g.20638369T>C	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Val486Leu	rs770130451	missense variant	-	NC_000013.11:g.20638374G>T	ExAC,gnomAD
IFT88	Q13099	p.Asp489Asn	rs749723372	missense variant	-	NC_000013.11:g.20638383G>A	ExAC,gnomAD
IFT88	Q13099	p.Asp489Gly	rs973839736	missense variant	-	NC_000013.11:g.20638384A>G	TOPMed
IFT88	Q13099	p.Asp489His	COSM1300060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20638383G>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Pro493Ser	rs918418210	missense variant	-	NC_000013.11:g.20638395C>T	TOPMed
IFT88	Q13099	p.Pro493Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20638396C>T	NCI-TCGA
IFT88	Q13099	p.Asn498Ser	rs1432423129	missense variant	-	NC_000013.11:g.20638411A>G	gnomAD
IFT88	Q13099	p.Lys499Thr	rs1311922022	missense variant	-	NC_000013.11:g.20638414A>C	gnomAD
IFT88	Q13099	p.Gly500Glu	rs372979556	missense variant	-	NC_000013.11:g.20638417G>A	ESP,ExAC,gnomAD
IFT88	Q13099	p.Gly500Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20638417G>T	NCI-TCGA
IFT88	Q13099	p.Val503Phe	rs762129374	missense variant	-	NC_000013.11:g.20638425G>T	ExAC
IFT88	Q13099	p.Val503Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20638426T>C	NCI-TCGA
IFT88	Q13099	p.Ala505Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20638431G>A	NCI-TCGA
IFT88	Q13099	p.Gly507Ser	rs776584659	missense variant	-	NC_000013.11:g.20638437G>A	ExAC,gnomAD
IFT88	Q13099	p.Tyr509His	rs759466614	missense variant	-	NC_000013.11:g.20638443T>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu510Val	rs1229614809	missense variant	-	NC_000013.11:g.20638447A>T	gnomAD
IFT88	Q13099	p.Glu510Lys	rs1208938371	missense variant	-	NC_000013.11:g.20638446G>A	gnomAD
IFT88	Q13099	p.Ala512Asp	rs1279843651	missense variant	-	NC_000013.11:g.20638453C>A	gnomAD
IFT88	Q13099	p.Ala513Thr	rs551160953	missense variant	-	NC_000013.11:g.20638455G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Phe515Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20638463C>A	NCI-TCGA
IFT88	Q13099	p.Tyr516Cys	rs763684497	missense variant	-	NC_000013.11:g.20638465A>G	ExAC,gnomAD
IFT88	Q13099	p.Lys517Glu	rs147424880	missense variant	-	NC_000013.11:g.20638467A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Lys517Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20638468A>T	NCI-TCGA
IFT88	Q13099	p.Glu518Asp	rs780879691	missense variant	-	NC_000013.11:g.20638472G>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu518Gln	rs1237913864	missense variant	-	NC_000013.11:g.20638470G>C	TOPMed
IFT88	Q13099	p.Ala519Pro	rs1453004645	missense variant	-	NC_000013.11:g.20638473G>C	gnomAD
IFT88	Q13099	p.Leu520Val	rs750071942	missense variant	-	NC_000013.11:g.20638476C>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg521Ile	COSM945889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20638480G>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Cys526Arg	rs1315604171	missense variant	-	NC_000013.11:g.20638494T>C	gnomAD
IFT88	Q13099	p.Thr527Ser	rs1344095972	missense variant	-	NC_000013.11:g.20638497A>T	gnomAD
IFT88	Q13099	p.Asn532Ser	rs1368464447	missense variant	-	NC_000013.11:g.20638513A>G	gnomAD
IFT88	Q13099	p.Asn532Asp	rs780256949	missense variant	-	NC_000013.11:g.20638512A>G	ExAC,gnomAD
IFT88	Q13099	p.Gly534Asp	rs143797877	missense variant	-	NC_000013.11:g.20641290G>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Leu535Val	rs755524960	missense variant	-	NC_000013.11:g.20641292C>G	ExAC,gnomAD
IFT88	Q13099	p.Thr536Ala	rs1229055620	missense variant	-	NC_000013.11:g.20641295A>G	gnomAD
IFT88	Q13099	p.Tyr537Cys	rs537967756	missense variant	-	NC_000013.11:g.20641299A>G	1000Genomes,ExAC,gnomAD
IFT88	Q13099	p.Lys539Glu	rs1268420195	missense variant	-	NC_000013.11:g.20641304A>G	gnomAD
IFT88	Q13099	p.Asn541Tyr	rs747257976	missense variant	-	NC_000013.11:g.20641310A>T	ExAC,gnomAD
IFT88	Q13099	p.Asn541Ser	rs1292305754	missense variant	-	NC_000013.11:g.20641311A>G	TOPMed
IFT88	Q13099	p.Arg542Gln	rs377167773	missense variant	-	NC_000013.11:g.20641314G>A	TOPMed
IFT88	Q13099	p.Arg542Gly	rs147278996	missense variant	-	NC_000013.11:g.20641313C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg542Trp	rs147278996	missense variant	-	NC_000013.11:g.20641313C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Leu543Pro	rs775367686	missense variant	-	NC_000013.11:g.20641317T>C	ExAC,TOPMed
IFT88	Q13099	p.Asp544Glu	rs768493302	missense variant	-	NC_000013.11:g.20641321T>G	ExAC,gnomAD
IFT88	Q13099	p.Asp544Val	rs148732064	missense variant	-	NC_000013.11:g.20641320A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala546Val	rs372847493	missense variant	-	NC_000013.11:g.20641326C>T	ESP,ExAC,gnomAD
IFT88	Q13099	p.Asp548Asn	rs761712414	missense variant	-	NC_000013.11:g.20641331G>A	ExAC,gnomAD
IFT88	Q13099	p.Cys549Tyr	rs1330644120	missense variant	-	NC_000013.11:g.20641335G>A	TOPMed
IFT88	Q13099	p.Lys552Glu	COSM3885080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20641343A>G	NCI-TCGA Cosmic
IFT88	Q13099	p.Leu553Val	rs1407975381	missense variant	-	NC_000013.11:g.20641346C>G	TOPMed,gnomAD
IFT88	Q13099	p.Leu553Pro	rs767032591	missense variant	-	NC_000013.11:g.20641347T>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Leu553Phe	rs1407975381	missense variant	-	NC_000013.11:g.20641346C>T	TOPMed,gnomAD
IFT88	Q13099	p.His554Arg	rs772666195	missense variant	-	NC_000013.11:g.20641350A>G	ExAC,gnomAD
IFT88	Q13099	p.His554Leu	rs772666195	missense variant	-	NC_000013.11:g.20641350A>T	ExAC,gnomAD
IFT88	Q13099	p.Ala555Val	rs1353657403	missense variant	-	NC_000013.11:g.20641353C>T	gnomAD
IFT88	Q13099	p.Ala555Thr	rs146264538	missense variant	-	NC_000013.11:g.20641352G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile556Thr	rs1266578027	missense variant	-	NC_000013.11:g.20641356T>C	gnomAD
IFT88	Q13099	p.Arg558Ter	rs372386358	stop gained	-	NC_000013.11:g.20641361C>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg558Gly	rs372386358	missense variant	-	NC_000013.11:g.20641361C>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg558Gln	rs566601705	missense variant	-	NC_000013.11:g.20641362G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn559His	rs753306486	missense variant	-	NC_000013.11:g.20641364A>C	ExAC,gnomAD
IFT88	Q13099	p.Ser560Ile	rs758926941	missense variant	-	NC_000013.11:g.20641368G>T	ExAC,gnomAD
IFT88	Q13099	p.Glu562Gln	rs777984685	missense variant	-	NC_000013.11:g.20641373G>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu562Lys	rs777984685	missense variant	-	NC_000013.11:g.20641373G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu562Ala	rs139357654	missense variant	-	NC_000013.11:g.20641374A>C	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Leu564Val	rs1276605866	missense variant	-	NC_000013.11:g.20641379C>G	TOPMed,gnomAD
IFT88	Q13099	p.Tyr565Ser	rs749566598	missense variant	-	NC_000013.11:g.20641383A>C	TOPMed
IFT88	Q13099	p.Tyr565Cys	rs749566598	missense variant	-	NC_000013.11:g.20641383A>G	TOPMed
IFT88	Q13099	p.Tyr565Ter	rs4145579	stop gained	-	NC_000013.11:g.20641384C>G	ExAC,gnomAD
IFT88	Q13099	p.Gln566His	rs1370101065	missense variant	-	NC_000013.11:g.20641387G>T	gnomAD
IFT88	Q13099	p.Ile567Met	rs768385474	missense variant	-	NC_000013.11:g.20641390A>G	ExAC,gnomAD
IFT88	Q13099	p.Ala568Thr	rs774079711	missense variant	-	NC_000013.11:g.20641391G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn569Asp	rs748111385	missense variant	-	NC_000013.11:g.20641394A>G	ExAC,gnomAD
IFT88	Q13099	p.Ile570Thr	rs1430576937	missense variant	-	NC_000013.11:g.20641398T>C	gnomAD
IFT88	Q13099	p.Ile570Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20641397A>G	NCI-TCGA
IFT88	Q13099	p.Tyr571Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20643456T>G	NCI-TCGA
IFT88	Q13099	p.Glu572Lys	COSM3793178	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20643459G>A	NCI-TCGA Cosmic
IFT88	Q13099	p.Met574Thr	rs746935260	missense variant	-	NC_000013.11:g.20643466T>C	ExAC,gnomAD
IFT88	Q13099	p.Met574Lys	rs746935260	missense variant	-	NC_000013.11:g.20643466T>A	ExAC,gnomAD
IFT88	Q13099	p.Met574Ile	COSM1477125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20643467G>A	NCI-TCGA Cosmic
IFT88	Q13099	p.Pro577Ser	rs1268341937	missense variant	-	NC_000013.11:g.20643474C>T	TOPMed
IFT88	Q13099	p.Ser578Gly	rs1455309085	missense variant	-	NC_000013.11:g.20643477A>G	gnomAD
IFT88	Q13099	p.Gln579Ter	rs776162848	stop gained	-	NC_000013.11:g.20643480C>T	ExAC,gnomAD
IFT88	Q13099	p.Gln579Lys	rs776162848	missense variant	-	NC_000013.11:g.20643480C>A	ExAC,gnomAD
IFT88	Q13099	p.Gln579Arg	rs1204438115	missense variant	-	NC_000013.11:g.20643481A>G	TOPMed,gnomAD
IFT88	Q13099	p.Gln579Glu	rs776162848	missense variant	-	NC_000013.11:g.20643480C>G	ExAC,gnomAD
IFT88	Q13099	p.Ala580Thr	rs1199890768	missense variant	-	NC_000013.11:g.20643483G>A	TOPMed
IFT88	Q13099	p.Ile581Met	rs1466237015	missense variant	-	NC_000013.11:g.20643488T>G	gnomAD
IFT88	Q13099	p.Val587Met	rs763475487	missense variant	-	NC_000013.11:g.20643504G>A	ExAC,gnomAD
IFT88	Q13099	p.Val587Ala	rs764519805	missense variant	-	NC_000013.11:g.20643505T>C	ExAC,gnomAD
IFT88	Q13099	p.Val588Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20643507G>A	NCI-TCGA
IFT88	Q13099	p.Ser589Ile	rs752051994	missense variant	-	NC_000013.11:g.20643511G>T	ExAC,gnomAD
IFT88	Q13099	p.Ser589Gly	rs1261745517	missense variant	-	NC_000013.11:g.20643510A>G	TOPMed
IFT88	Q13099	p.Ile591Thr	rs767524689	missense variant	-	NC_000013.11:g.20643517T>C	ExAC,gnomAD
IFT88	Q13099	p.Thr593Pro	rs750449166	missense variant	-	NC_000013.11:g.20643522A>C	ExAC,gnomAD
IFT88	Q13099	p.Thr593Ala	rs750449166	missense variant	-	NC_000013.11:g.20643522A>G	ExAC,gnomAD
IFT88	Q13099	p.Asp594Asn	rs146631055	missense variant	-	NC_000013.11:g.20643525G>A	ESP,ExAC,gnomAD
IFT88	Q13099	p.Val597Leu	rs1367360712	missense variant	-	NC_000013.11:g.20643534G>C	gnomAD
IFT88	Q13099	p.Val597Phe	COSM6074471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20643534G>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Leu598Phe	rs140243413	missense variant	-	NC_000013.11:g.20643539A>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser599Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20643541C>T	NCI-TCGA
IFT88	Q13099	p.Lys600Glu	rs1302992478	missense variant	-	NC_000013.11:g.20643543A>G	gnomAD
IFT88	Q13099	p.Glu603Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.20643552G>T	NCI-TCGA
IFT88	Q13099	p.Tyr605His	rs1314804176	missense variant	-	NC_000013.11:g.20643558T>C	gnomAD
IFT88	Q13099	p.Tyr605Cys	rs746946612	missense variant	-	NC_000013.11:g.20643559A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Tyr605Phe	rs746946612	missense variant	-	NC_000013.11:g.20643559A>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp606Gly	rs770865557	missense variant	-	NC_000013.11:g.20643562A>G	ExAC
IFT88	Q13099	p.Arg607Ser	rs369672253	missense variant	-	NC_000013.11:g.20643564C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg607Pro	rs188470141	missense variant	-	NC_000013.11:g.20643565G>C	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg607His	rs188470141	missense variant	-	NC_000013.11:g.20643565G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg607Cys	rs369672253	missense variant	-	NC_000013.11:g.20643564C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg607Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20643565G>T	NCI-TCGA
IFT88	Q13099	p.Gly609Glu	rs775319781	missense variant	-	NC_000013.11:g.20643571G>A	ExAC,gnomAD
IFT88	Q13099	p.Ala614Ser	rs1192747967	missense variant	-	NC_000013.11:g.20643585G>T	gnomAD
IFT88	Q13099	p.Tyr619His	rs1181540046	missense variant	-	NC_000013.11:g.20643600T>C	gnomAD
IFT88	Q13099	p.Tyr619Cys	rs373094049	missense variant	-	NC_000013.11:g.20643601A>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser621Leu	rs1424959430	missense variant	-	NC_000013.11:g.20644844C>T	gnomAD
IFT88	Q13099	p.Tyr622Cys	rs1353135343	missense variant	-	NC_000013.11:g.20644847A>G	gnomAD
IFT88	Q13099	p.Arg623Lys	rs1478634020	missense variant	-	NC_000013.11:g.20644850G>A	gnomAD
IFT88	Q13099	p.Arg623Ser	rs1308291155	missense variant	-	NC_000013.11:g.20644851G>T	gnomAD
IFT88	Q13099	p.Tyr624Ter	rs1372065523	stop gained	-	NC_000013.11:g.20644854T>A	gnomAD
IFT88	Q13099	p.Phe625Leu	rs779659140	missense variant	-	NC_000013.11:g.20644857T>A	ExAC,gnomAD
IFT88	Q13099	p.Pro626Ser	rs1283149888	missense variant	-	NC_000013.11:g.20644858C>T	gnomAD
IFT88	Q13099	p.Ile629Val	rs1379795395	missense variant	-	NC_000013.11:g.20644867A>G	gnomAD
IFT88	Q13099	p.Glu630Lys	rs1229961493	missense variant	-	NC_000013.11:g.20644870G>A	gnomAD
IFT88	Q13099	p.Ile632Thr	rs1293111587	missense variant	-	NC_000013.11:g.20644877T>C	TOPMed,gnomAD
IFT88	Q13099	p.Glu633Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20644879G>A	NCI-TCGA
IFT88	Q13099	p.Glu633Ter	rs748976581	stop gained	-	NC_000013.11:g.20644879G>T	ExAC,gnomAD
IFT88	Q13099	p.Trp634Ter	rs1009279123	stop gained	-	NC_000013.11:g.20644884G>A	gnomAD
IFT88	Q13099	p.Trp634Cys	rs1009279123	missense variant	-	NC_000013.11:g.20644884G>T	gnomAD
IFT88	Q13099	p.Gly636Ter	rs76768372	stop gained	-	NC_000013.11:g.20644888G>T	ExAC,gnomAD
IFT88	Q13099	p.Ala637Ser	rs143955467	missense variant	-	NC_000013.11:g.20644891G>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Tyr638Cys	rs748603147	missense variant	-	NC_000013.11:g.20644895A>G	ExAC,gnomAD
IFT88	Q13099	p.Tyr639Cys	rs1410490930	missense variant	-	NC_000013.11:g.20644898A>G	TOPMed,gnomAD
IFT88	Q13099	p.Tyr639Ter	rs748805100	stop gained	-	NC_000013.11:g.20644898dup	ExAC,gnomAD
IFT88	Q13099	p.Ile640Thr	rs1350934184	missense variant	-	NC_000013.11:g.20644901T>C	TOPMed
IFT88	Q13099	p.Ile640Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20644900A>G	NCI-TCGA
IFT88	Q13099	p.Gln643Ter	rs772318137	stop gained	-	NC_000013.11:g.20644909C>T	ExAC,gnomAD
IFT88	Q13099	p.Gln643His	rs773811832	missense variant	-	NC_000013.11:g.20644911A>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gln643Arg	rs1449208852	missense variant	-	NC_000013.11:g.20644910A>G	gnomAD
IFT88	Q13099	p.Phe644Ile	COSM695828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20644912T>A	NCI-TCGA Cosmic
IFT88	Q13099	p.Glu646Asp	rs1391613918	missense variant	-	NC_000013.11:g.20644920A>C	gnomAD
IFT88	Q13099	p.Lys647Thr	rs761148529	missense variant	-	NC_000013.11:g.20644922A>C	ExAC,gnomAD
IFT88	Q13099	p.Ala648Thr	rs975454884	missense variant	-	NC_000013.11:g.20644924G>A	TOPMed
IFT88	Q13099	p.Ile649Val	rs766469865	missense variant	-	NC_000013.11:g.20644927A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gln650Glu	rs1450074277	missense variant	-	NC_000013.11:g.20644930C>G	gnomAD
IFT88	Q13099	p.Phe652Leu	rs759762441	missense variant	-	NC_000013.11:g.20644938T>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Phe652Leu	rs759762441	missense variant	-	NC_000013.11:g.20644938T>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser656Phe	rs765444887	missense variant	-	NC_000013.11:g.20644949C>T	ExAC,gnomAD
IFT88	Q13099	p.Ser656Tyr	COSM945892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20644949C>A	NCI-TCGA Cosmic
IFT88	Q13099	p.Ile658Leu	rs752851395	missense variant	-	NC_000013.11:g.20644954A>T	ExAC,gnomAD
IFT88	Q13099	p.Ile658Thr	rs757112994	missense variant	-	NC_000013.11:g.20644955T>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gln659Arg	rs750405430	missense variant	-	NC_000013.11:g.20644958A>G	ExAC,gnomAD
IFT88	Q13099	p.Pro660Leu	rs146456229	missense variant	-	NC_000013.11:g.20653878C>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Pro660Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20653877C>T	NCI-TCGA
IFT88	Q13099	p.Thr661Ala	rs1246908807	missense variant	-	NC_000013.11:g.20653880A>G	gnomAD
IFT88	Q13099	p.Trp665Ter	rs1478840420	stop gained	-	NC_000013.11:g.20653894G>A	gnomAD
IFT88	Q13099	p.Gln666Lys	rs1179383894	missense variant	-	NC_000013.11:g.20653895C>A	gnomAD
IFT88	Q13099	p.Gln666His	rs1410589533	missense variant	-	NC_000013.11:g.20653897G>C	gnomAD
IFT88	Q13099	p.Val669Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20653904G>A	NCI-TCGA
IFT88	Q13099	p.Ala670Pro	rs1388539905	missense variant	-	NC_000013.11:g.20653907G>C	gnomAD
IFT88	Q13099	p.Ser671Gly	rs9552254	missense variant	-	NC_000013.11:g.20653910A>G	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Cys672Ser	rs79942385	missense variant	-	NC_000013.11:g.20653914G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg674Lys	rs1330337298	missense variant	-	NC_000013.11:g.20653920G>A	TOPMed
IFT88	Q13099	p.Arg674Gly	rs766482070	missense variant	-	NC_000013.11:g.20653919A>G	ExAC,gnomAD
IFT88	Q13099	p.Arg674Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20653920G>T	NCI-TCGA
IFT88	Q13099	p.Ser676Arg	rs1037071480	missense variant	-	NC_000013.11:g.20653925A>C	TOPMed
IFT88	Q13099	p.Gly677Asp	rs1339032254	missense variant	-	NC_000013.11:g.20656365G>A	TOPMed
IFT88	Q13099	p.Asn678Asp	rs1296554556	missense variant	-	NC_000013.11:g.20656367A>G	TOPMed
IFT88	Q13099	p.Asn678Ser	rs1472259377	missense variant	-	NC_000013.11:g.20656368A>G	TOPMed,gnomAD
IFT88	Q13099	p.Tyr679Ter	rs777464164	stop gained	-	NC_000013.11:g.20656372C>A	ExAC,gnomAD
IFT88	Q13099	p.Gln680Pro	rs751211754	missense variant	-	NC_000013.11:g.20656374A>C	ExAC,gnomAD
IFT88	Q13099	p.Lys681Arg	rs1052657687	missense variant	-	NC_000013.11:g.20656377A>G	TOPMed,gnomAD
IFT88	Q13099	p.Asp684Asn	rs974478747	missense variant	-	NC_000013.11:g.20656385G>A	TOPMed,gnomAD
IFT88	Q13099	p.Asp688Val	rs1440168958	missense variant	-	NC_000013.11:g.20656398A>T	TOPMed
IFT88	Q13099	p.Thr689Pro	rs1415621049	missense variant	-	NC_000013.11:g.20656400A>C	gnomAD
IFT88	Q13099	p.His690Gln	rs74996961	missense variant	-	NC_000013.11:g.20656405C>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.His690Arg	rs757661778	missense variant	-	NC_000013.11:g.20656404A>G	ExAC,gnomAD
IFT88	Q13099	p.His690Asp	rs1347598775	missense variant	-	NC_000013.11:g.20656403C>G	TOPMed
IFT88	Q13099	p.Phe693Ser	rs536388232	missense variant	-	NC_000013.11:g.20656413T>C	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn696Asp	rs376845716	missense variant	-	NC_000013.11:g.20656421A>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Val697Ile	rs140279679	missense variant	-	NC_000013.11:g.20656424G>A	ESP,ExAC,gnomAD
IFT88	Q13099	p.Leu700Met	rs1192015021	missense variant	-	NC_000013.11:g.20663500C>A	TOPMed
IFT88	Q13099	p.Arg701His	rs143840290	missense variant	-	NC_000013.11:g.20663504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg701Cys	rs755503677	missense variant	-	NC_000013.11:g.20663503C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg705Cys	rs748181737	missense variant	-	NC_000013.11:g.20663515C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg705Pro	rs373832683	missense variant	-	NC_000013.11:g.20663516G>C	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg705His	rs373832683	missense variant	-	NC_000013.11:g.20663516G>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Leu706Phe	rs777928903	missense variant	-	NC_000013.11:g.20663518C>T	ExAC,gnomAD
IFT88	Q13099	p.Thr708Ala	rs747226088	missense variant	-	NC_000013.11:g.20663524A>G	ExAC,gnomAD
IFT88	Q13099	p.Asp709Tyr	rs769528440	missense variant	-	NC_000013.11:g.20663527G>T	ExAC,gnomAD
IFT88	Q13099	p.Asp709His	rs769528440	missense variant	-	NC_000013.11:g.20663527G>C	ExAC,gnomAD
IFT88	Q13099	p.Leu710Val	rs964369430	missense variant	-	NC_000013.11:g.20663530C>G	TOPMed,gnomAD
IFT88	Q13099	p.Glu717Lys	rs556520455	missense variant	-	NC_000013.11:g.20663551G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu717Ter	rs556520455	stop gained	-	NC_000013.11:g.20663551G>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Tyr718His	rs774255357	missense variant	-	NC_000013.11:g.20663554T>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg720Ser	COSM1365758	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20663562A>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Leu725Val	rs1445674871	missense variant	-	NC_000013.11:g.20663575T>G	TOPMed,gnomAD
IFT88	Q13099	p.Lys727Gln	rs767023085	missense variant	-	NC_000013.11:g.20663581A>C	ExAC,gnomAD
IFT88	Q13099	p.Lys727AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.20663582_20663583insTTATAATTATTTGTCTGTTAGT	NCI-TCGA
IFT88	Q13099	p.Met728Leu	rs1379865061	missense variant	-	NC_000013.11:g.20663584A>T	gnomAD
IFT88	Q13099	p.Met728Ter	NCI-TCGA novel	frameshift	-	NC_000013.11:g.20663579A>-	NCI-TCGA
IFT88	Q13099	p.Glu730Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20663590G>C	NCI-TCGA
IFT88	Q13099	p.Glu730Ter	COSM945894	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20663590G>T	NCI-TCGA Cosmic
IFT88	Q13099	p.Ile731Arg	rs1295219404	missense variant	-	NC_000013.11:g.20663594T>G	gnomAD
IFT88	Q13099	p.Ile731Val	rs772787348	missense variant	-	NC_000013.11:g.20663593A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gln734Arg	rs766687371	missense variant	-	NC_000013.11:g.20663603A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gln734Ter	rs1032388633	stop gained	-	NC_000013.11:g.20663602C>T	TOPMed,gnomAD
IFT88	Q13099	p.Arg735Cys	rs373718900	missense variant	-	NC_000013.11:g.20670973C>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg735His	rs78898843	missense variant	-	NC_000013.11:g.20670974G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg735Ser	rs373718900	missense variant	-	NC_000013.11:g.20670973C>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg735Gly	rs373718900	missense variant	-	NC_000013.11:g.20670973C>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg735TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.20663604_20663605insTATATTT	NCI-TCGA
IFT88	Q13099	p.Ile736Leu	rs1464701744	missense variant	-	NC_000013.11:g.20670976A>T	gnomAD
IFT88	Q13099	p.Ile736Met	rs1461483311	missense variant	-	NC_000013.11:g.20670978A>G	gnomAD
IFT88	Q13099	p.Ser738Leu	rs1360419319	missense variant	-	NC_000013.11:g.20670983C>T	TOPMed
IFT88	Q13099	p.Gly739Ser	rs147235446	missense variant	-	NC_000013.11:g.20670985G>A	ESP,ExAC,gnomAD
IFT88	Q13099	p.Gly739Asp	rs772737341	missense variant	-	NC_000013.11:g.20670986G>A	ExAC,gnomAD
IFT88	Q13099	p.Ser743Asn	rs1476873767	missense variant	-	NC_000013.11:g.20670998G>A	gnomAD
IFT88	Q13099	p.Ser746LeuPheSerTerUnkUnk	COSM1365759	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20670999_20671000insG	NCI-TCGA Cosmic
IFT88	Q13099	p.Arg747His	rs544175473	missense variant	-	NC_000013.11:g.20671010G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg747Cys	rs770559035	missense variant	-	NC_000013.11:g.20671009C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Lys749Glu	rs1324025239	missense variant	-	NC_000013.11:g.20671015A>G	TOPMed
IFT88	Q13099	p.Glu751Gln	rs753310520	missense variant	-	NC_000013.11:g.20671021G>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gly752Glu	rs763471939	missense variant	-	NC_000013.11:g.20671025G>A	ExAC,gnomAD
IFT88	Q13099	p.Ala754Val	rs1347178523	missense variant	-	NC_000013.11:g.20671031C>T	gnomAD
IFT88	Q13099	p.Ser755Ile	rs764082843	missense variant	-	NC_000013.11:g.20671034G>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser755Thr	rs764082843	missense variant	-	NC_000013.11:g.20671034G>C	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser755Arg	rs202072254	missense variant	-	NC_000013.11:g.20671035C>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gly756Asp	rs1225473074	missense variant	-	NC_000013.11:g.20671037G>A	gnomAD
IFT88	Q13099	p.Gly756Ser	rs757268801	missense variant	-	NC_000013.11:g.20671036G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp757Gly	rs770308243	missense variant	-	NC_000013.11:g.20690705A>G	ExAC,gnomAD
IFT88	Q13099	p.Asp757Asn	rs1251775666	missense variant	-	NC_000013.11:g.20671039G>A	TOPMed
IFT88	Q13099	p.Gly759Ser	rs138716049	missense variant	-	NC_000013.11:g.20690710G>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Gly759Cys	rs138716049	missense variant	-	NC_000013.11:g.20690710G>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asn761Ser	rs764715617	missense variant	-	NC_000013.11:g.20690717A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Tyr762Cys	rs566137469	missense variant	-	NC_000013.11:g.20690720A>G	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser763Asn	rs767561703	missense variant	-	NC_000013.11:g.20690723G>A	ExAC,gnomAD
IFT88	Q13099	p.Ser765Gly	rs1386085104	missense variant	-	NC_000013.11:g.20690728A>G	gnomAD
IFT88	Q13099	p.Ser766Thr	rs756288774	missense variant	-	NC_000013.11:g.20690732G>C	ExAC,gnomAD
IFT88	Q13099	p.Glu769Ala	rs746017151	missense variant	-	NC_000013.11:g.20690741A>C	TOPMed
IFT88	Q13099	p.Glu769Gly	rs746017151	missense variant	-	NC_000013.11:g.20690741A>G	TOPMed
IFT88	Q13099	p.Arg770Ter	rs752479820	stop gained	-	NC_000013.11:g.20690743C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Leu771Pro	rs1366987913	missense variant	-	NC_000013.11:g.20690747T>C	TOPMed
IFT88	Q13099	p.Leu771Gln	rs1366987913	missense variant	-	NC_000013.11:g.20690747T>A	TOPMed
IFT88	Q13099	p.Leu771Val	rs144721929	missense variant	-	NC_000013.11:g.20690746C>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser772Thr	rs1429504394	missense variant	-	NC_000013.11:g.20690750G>C	TOPMed
IFT88	Q13099	p.Ser772Gly	rs777835152	missense variant	-	NC_000013.11:g.20690749A>G	ExAC,gnomAD
IFT88	Q13099	p.Arg776Gly	rs1188776994	missense variant	-	NC_000013.11:g.20690761A>G	TOPMed
IFT88	Q13099	p.Leu778Phe	rs902158703	missense variant	-	NC_000013.11:g.20690769A>C	TOPMed,gnomAD
IFT88	Q13099	p.Leu778Ter	rs756844455	stop gained	-	NC_000013.11:g.20690768T>G	ExAC,gnomAD
IFT88	Q13099	p.Pro779Arg	rs745550205	missense variant	-	NC_000013.11:g.20690771C>G	ExAC,gnomAD
IFT88	Q13099	p.Pro779Ser	rs780802564	missense variant	-	NC_000013.11:g.20690770C>T	ExAC,gnomAD
IFT88	Q13099	p.Thr781Ile	rs764717392	missense variant	-	NC_000013.11:g.20690777C>T	gnomAD
IFT88	Q13099	p.Asn782Ser	rs1246663885	missense variant	-	NC_000013.11:g.20690780A>G	TOPMed
IFT88	Q13099	p.Glu783Gly	rs999175571	missense variant	-	NC_000013.11:g.20690783A>G	TOPMed
IFT88	Q13099	p.Tyr785Cys	rs1276395362	missense variant	-	NC_000013.11:g.20690789A>G	gnomAD
IFT88	Q13099	p.Ser787AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.20690794_20690795insACACGAAAATAAAAATGCATTTGTTTAATAT	NCI-TCGA
IFT88	Q13099	p.Ser787Gly	COSM4938003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20690794A>G	NCI-TCGA Cosmic
IFT88	Q13099	p.Ser788Gly	rs1183896713	missense variant	-	NC_000013.11:g.20690797A>G	gnomAD
IFT88	Q13099	p.Ser789Asn	rs775264617	missense variant	-	NC_000013.11:g.20690801G>A	ExAC,gnomAD
IFT88	Q13099	p.Ser789Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20690802T>A	NCI-TCGA
IFT88	Q13099	p.Asn790Asp	rs1186946062	missense variant	-	NC_000013.11:g.20690803A>G	gnomAD
IFT88	Q13099	p.Lys791Glu	rs1372765748	missense variant	-	NC_000013.11:g.20690806A>G	TOPMed,gnomAD
IFT88	Q13099	p.Lys791Arg	rs749726010	missense variant	-	NC_000013.11:g.20690807A>G	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ile793Lys	rs372033430	missense variant	-	NC_000013.11:g.20690813T>A	ESP,ExAC,gnomAD
IFT88	Q13099	p.Ala795Gly	rs1320956544	missense variant	-	NC_000013.11:g.20691057C>G	gnomAD
IFT88	Q13099	p.Ser796Cys	rs369560434	missense variant	-	NC_000013.11:g.20691060C>G	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ser796Phe	rs369560434	missense variant	-	NC_000013.11:g.20691060C>T	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Tyr797Phe	rs773696145	missense variant	-	NC_000013.11:g.20691063A>T	ExAC,gnomAD
IFT88	Q13099	p.Tyr797Ser	rs773696145	missense variant	-	NC_000013.11:g.20691063A>C	ExAC,gnomAD
IFT88	Q13099	p.Tyr797Cys	rs773696145	missense variant	-	NC_000013.11:g.20691063A>G	ExAC,gnomAD
IFT88	Q13099	p.Gly802Asp	COSM1365760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20691078G>A	NCI-TCGA Cosmic
IFT88	Q13099	p.Pro803Arg	rs759631317	missense variant	-	NC_000013.11:g.20691081C>G	ExAC,gnomAD
IFT88	Q13099	p.Gln804Glu	rs1261099178	missense variant	-	NC_000013.11:g.20691083C>G	gnomAD
IFT88	Q13099	p.Ile805Leu	rs763983824	missense variant	-	NC_000013.11:g.20691086A>C	ExAC,gnomAD
IFT88	Q13099	p.Glu806Gln	rs1158458042	missense variant	-	NC_000013.11:g.20691089G>C	TOPMed
IFT88	Q13099	p.Glu806Gly	rs1207144939	missense variant	-	NC_000013.11:g.20691090A>G	gnomAD
IFT88	Q13099	p.Arg807Ter	rs751249957	stop gained	-	NC_000013.11:g.20691092C>T	ExAC,gnomAD
IFT88	Q13099	p.Arg807Gln	rs148569265	missense variant	-	NC_000013.11:g.20691093G>A	ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Arg807Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20691093G>T	NCI-TCGA
IFT88	Q13099	p.Pro808Ser	rs776916841	missense variant	-	NC_000013.11:g.20691095C>T	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Pro808Thr	rs776916841	missense variant	-	NC_000013.11:g.20691095C>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Ala811Val	rs967166357	missense variant	-	NC_000013.11:g.20691105C>T	TOPMed
IFT88	Q13099	p.Ala811Ser	rs779381228	missense variant	-	NC_000013.11:g.20691104G>T	ExAC,gnomAD
IFT88	Q13099	p.Arg815Lys	rs754520106	missense variant	-	NC_000013.11:g.20691117G>A	ExAC,gnomAD
IFT88	Q13099	p.Ile816Thr	rs779347692	missense variant	-	NC_000013.11:g.20691120T>C	ExAC,gnomAD
IFT88	Q13099	p.Ile816Val	rs765834236	missense variant	-	NC_000013.11:g.20691119A>G	gnomAD
IFT88	Q13099	p.Asp817Ala	rs141704239	missense variant	-	NC_000013.11:g.20691123A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp817Asn	rs748571032	missense variant	-	NC_000013.11:g.20691122G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu818Lys	rs1348482594	missense variant	-	NC_000013.11:g.20691125G>A	gnomAD
IFT88	Q13099	p.Asp819Glu	rs778294809	missense variant	-	NC_000013.11:g.20691130T>A	ExAC,gnomAD
IFT88	Q13099	p.Asp820Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.20691131G>A	NCI-TCGA
IFT88	Q13099	p.Asp823His	COSM6074470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20691140G>C	NCI-TCGA Cosmic
IFT88	Q13099	p.Glu824Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.20691143G>T	NCI-TCGA
IFT88	Q13099	p.Glu825Gln	rs1263697542	missense variant	-	NC_000013.11:g.20691146G>C	TOPMed
IFT88	Q13099	p.Gly827Glu	rs771024026	missense variant	-	NC_000013.11:g.20691153G>A	ExAC,gnomAD
IFT88	Q13099	p.Gly827Arg	rs747493878	missense variant	-	NC_000013.11:g.20691152G>A	ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp828Val	rs570887983	missense variant	-	NC_000013.11:g.20691156A>T	1000Genomes,ExAC,gnomAD
IFT88	Q13099	p.Asp829Asn	rs532025198	missense variant	-	NC_000013.11:g.20691158G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Asp829Tyr	rs532025198	missense variant	-	NC_000013.11:g.20691158G>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT88	Q13099	p.Glu833Gln	rs769854194	missense variant	-	NC_000013.11:g.20691170G>C	ExAC,gnomAD
TBX2	Q13207	p.Pro4Leu	rs754766050	missense variant	-	NC_000017.11:g.61400187C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro4Ser	rs1179281640	missense variant	-	NC_000017.11:g.61400186C>T	TOPMed
TBX2	Q13207	p.Ala5Thr	rs781121351	missense variant	-	NC_000017.11:g.61400189G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala5Glu	rs1291228442	missense variant	-	NC_000017.11:g.61400190C>A	gnomAD
TBX2	Q13207	p.Leu6Arg	rs1031446573	missense variant	-	NC_000017.11:g.61400193T>G	TOPMed
TBX2	Q13207	p.Ala7Thr	rs1057976	missense variant	-	NC_000017.11:g.61400195G>A	TOPMed
TBX2	Q13207	p.Ala7Val	rs1458507909	missense variant	-	NC_000017.11:g.61400196C>T	gnomAD
TBX2	Q13207	p.Ala8Thr	rs1246452882	missense variant	-	NC_000017.11:g.61400198G>A	gnomAD
TBX2	Q13207	p.Ala8Pro	rs1246452882	missense variant	-	NC_000017.11:g.61400198G>C	gnomAD
TBX2	Q13207	p.Ala8Ser	rs1246452882	missense variant	-	NC_000017.11:g.61400198G>T	gnomAD
TBX2	Q13207	p.Ser9Ile	rs748026437	missense variant	-	NC_000017.11:g.61400202G>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ser9Thr	rs748026437	missense variant	-	NC_000017.11:g.61400202G>C	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ser9Arg	rs756092997	missense variant	-	NC_000017.11:g.61400203C>A	ExAC,gnomAD
TBX2	Q13207	p.Ala10Ser	rs777818572	missense variant	-	NC_000017.11:g.61400204G>T	ExAC,gnomAD
TBX2	Q13207	p.Met11Thr	rs1374132531	missense variant	-	NC_000017.11:g.61400208T>C	TOPMed
TBX2	Q13207	p.Ala12Val	rs748704480	missense variant	-	NC_000017.11:g.61400211C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala12Ser	rs1308114018	missense variant	-	NC_000017.11:g.61400210G>T	TOPMed
TBX2	Q13207	p.Tyr13His	rs770476950	missense variant	-	NC_000017.11:g.61400213T>C	ExAC,gnomAD
TBX2	Q13207	p.His14Tyr	rs1374843347	missense variant	-	NC_000017.11:g.61400216C>T	TOPMed
TBX2	Q13207	p.Phe16Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61400222T>A	NCI-TCGA
TBX2	Q13207	p.Ala18Val	rs1406967777	missense variant	-	NC_000017.11:g.61400229C>T	gnomAD
TBX2	Q13207	p.Ala18Glu	rs1406967777	missense variant	-	NC_000017.11:g.61400229C>A	gnomAD
TBX2	Q13207	p.Arg20Gln	rs1364709483	missense variant	-	NC_000017.11:g.61400235G>A	TOPMed,gnomAD
TBX2	Q13207	p.Arg20Gln	RCV000723359	missense variant	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (VETD)	NC_000017.11:g.61400235G>A	ClinVar
TBX2	Q13207	p.Arg20Gln	RCV000625998	missense variant	-	NC_000017.11:g.61400235G>A	ClinVar
TBX2	Q13207	p.Pro21Thr	rs1410117068	missense variant	-	NC_000017.11:g.61400237C>A	TOPMed,gnomAD
TBX2	Q13207	p.Ala22Ser	rs771778245	missense variant	-	NC_000017.11:g.61400240G>T	ExAC,gnomAD
TBX2	Q13207	p.Met26Lys	rs1379875556	missense variant	-	NC_000017.11:g.61400253T>A	TOPMed
TBX2	Q13207	p.Ser27Cys	rs775800585	missense variant	-	NC_000017.11:g.61400256C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala31Glu	rs768992923	missense variant	-	NC_000017.11:g.61400268C>A	ExAC,gnomAD
TBX2	Q13207	p.Ala32Val	rs1421160065	missense variant	-	NC_000017.11:g.61400271C>T	TOPMed
TBX2	Q13207	p.Phe38Leu	rs1249893998	missense variant	-	NC_000017.11:g.61400288T>C	gnomAD
TBX2	Q13207	p.Pro39Gln	rs765373613	missense variant	-	NC_000017.11:g.61400292C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro39Ser	rs1482817952	missense variant	-	NC_000017.11:g.61400291C>T	gnomAD
TBX2	Q13207	p.Ala40Ser	rs1473765583	missense variant	-	NC_000017.11:g.61400294G>T	gnomAD
TBX2	Q13207	p.Ala42Val	rs766751812	missense variant	-	NC_000017.11:g.61400301C>T	ExAC,gnomAD
TBX2	Q13207	p.Ala42Thr	rs763267863	missense variant	-	NC_000017.11:g.61400300G>A	ExAC,gnomAD
TBX2	Q13207	p.Pro44Gln	rs1390426411	missense variant	-	NC_000017.11:g.61400307C>A	TOPMed,gnomAD
TBX2	Q13207	p.Gly46Arg	rs1341715116	missense variant	-	NC_000017.11:g.61400312G>C	gnomAD
TBX2	Q13207	p.Gly46Ser	rs1341715116	missense variant	-	NC_000017.11:g.61400312G>A	gnomAD
TBX2	Q13207	p.Gly46Asp	rs755997921	missense variant	-	NC_000017.11:g.61400313G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala47Glu	rs753823876	missense variant	-	NC_000017.11:g.61400316C>A	ExAC,gnomAD
TBX2	Q13207	p.Pro51Gln	rs757195340	missense variant	-	NC_000017.11:g.61400328C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro51Thr	rs1310182116	missense variant	-	NC_000017.11:g.61400327C>A	gnomAD
TBX2	Q13207	p.Leu52Pro	rs1455538072	missense variant	-	NC_000017.11:g.61400331T>C	TOPMed
TBX2	Q13207	p.Pro53Arg	rs1258424491	missense variant	-	NC_000017.11:g.61400334C>G	gnomAD
TBX2	Q13207	p.Asp54Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61400336G>T	NCI-TCGA
TBX2	Q13207	p.Pro55Leu	rs1048308922	missense variant	-	NC_000017.11:g.61400340C>T	TOPMed
TBX2	Q13207	p.Pro55Ser	rs1433871216	missense variant	-	NC_000017.11:g.61400339C>T	TOPMed
TBX2	Q13207	p.Pro55Gln	rs1048308922	missense variant	-	NC_000017.11:g.61400340C>A	TOPMed
TBX2	Q13207	p.Gly59Glu	rs867023713	missense variant	-	NC_000017.11:g.61400352G>A	gnomAD
TBX2	Q13207	p.Ala62Val	rs1323583331	missense variant	-	NC_000017.11:g.61400361C>T	TOPMed
TBX2	Q13207	p.Ala62Thr	rs1221726143	missense variant	-	NC_000017.11:g.61400360G>A	TOPMed,gnomAD
TBX2	Q13207	p.Ala63Glu	rs1470451562	missense variant	-	NC_000017.11:g.61400364C>A	TOPMed
TBX2	Q13207	p.Ala63Thr	rs901242277	missense variant	-	NC_000017.11:g.61400363G>A	TOPMed,gnomAD
TBX2	Q13207	p.Ala63Ser	rs901242277	missense variant	-	NC_000017.11:g.61400363G>T	TOPMed,gnomAD
TBX2	Q13207	p.Ala64Val	rs1168700579	missense variant	-	NC_000017.11:g.61400367C>T	TOPMed
TBX2	Q13207	p.Ala67Gly	rs564411433	missense variant	-	NC_000017.11:g.61400376C>G	1000Genomes
TBX2	Q13207	p.Ala69Thr	rs1186036074	missense variant	-	NC_000017.11:g.61400381G>A	TOPMed,gnomAD
TBX2	Q13207	p.Ala69Val	rs533394938	missense variant	-	NC_000017.11:g.61400382C>T	1000Genomes,ExAC,gnomAD
TBX2	Q13207	p.Ala69Ser	rs1186036074	missense variant	-	NC_000017.11:g.61400381G>T	TOPMed,gnomAD
TBX2	Q13207	p.Ala71Thr	rs1461212074	missense variant	-	NC_000017.11:g.61400387G>A	gnomAD
TBX2	Q13207	p.Glu72Lys	rs1416287154	missense variant	-	NC_000017.11:g.61400390G>A	gnomAD
TBX2	Q13207	p.Glu72Ala	rs1022494087	missense variant	-	NC_000017.11:g.61400391A>C	TOPMed,gnomAD
TBX2	Q13207	p.Ala73Glu	rs1264457431	missense variant	-	NC_000017.11:g.61400394C>A	TOPMed
TBX2	Q13207	p.Ala73Pro	rs771690050	missense variant	-	NC_000017.11:g.61400393G>C	ExAC,gnomAD
TBX2	Q13207	p.Gly74Glu	rs779701751	missense variant	-	NC_000017.11:g.61400397G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.His76Gln	rs549885020	missense variant	-	NC_000017.11:g.61400404C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.His76Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61400403A>G	NCI-TCGA
TBX2	Q13207	p.Ser78Leu	rs1295913604	missense variant	-	NC_000017.11:g.61400409C>T	gnomAD
TBX2	Q13207	p.Pro82Leu	rs762368697	missense variant	-	NC_000017.11:g.61400421C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro82Gln	rs762368697	missense variant	-	NC_000017.11:g.61400421C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.His83Gln	rs1417724940	missense variant	-	NC_000017.11:g.61400425C>A	TOPMed,gnomAD
TBX2	Q13207	p.His83Arg	rs370025489	missense variant	-	NC_000017.11:g.61400424A>G	ESP,gnomAD
TBX2	Q13207	p.His83Pro	rs370025489	missense variant	-	NC_000017.11:g.61400424A>C	ESP,gnomAD
TBX2	Q13207	p.Pro84Thr	rs373741482	missense variant	-	NC_000017.11:g.61400426C>A	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro85Arg	rs1210493837	missense variant	-	NC_000017.11:g.61400430C>G	TOPMed,gnomAD
TBX2	Q13207	p.Ala86Val	rs766662154	missense variant	-	NC_000017.11:g.61400433C>T	ExAC,gnomAD
TBX2	Q13207	p.Leu89Val	rs1397786159	missense variant	-	NC_000017.11:g.61400441C>G	TOPMed
TBX2	Q13207	p.Leu89Gln	rs1360887442	missense variant	-	NC_000017.11:g.61400442T>A	TOPMed,gnomAD
TBX2	Q13207	p.Arg90Pro	rs1379017045	missense variant	-	NC_000017.11:g.61400445G>C	TOPMed,gnomAD
TBX2	Q13207	p.Arg90Cys	rs1199218826	missense variant	-	NC_000017.11:g.61400444C>T	gnomAD
TBX2	Q13207	p.Leu92Val	rs960923591	missense variant	-	NC_000017.11:g.61400450C>G	TOPMed,gnomAD
TBX2	Q13207	p.Leu92Phe	rs960923591	missense variant	-	NC_000017.11:g.61400450C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ser94Asn	rs918353769	missense variant	-	NC_000017.11:g.61400457G>A	TOPMed
TBX2	Q13207	p.Pro97Ala	rs951021132	missense variant	-	NC_000017.11:g.61400465C>G	TOPMed
TBX2	Q13207	p.Asp99Asn	rs1319126868	missense variant	-	NC_000017.11:g.61400471G>A	gnomAD
TBX2	Q13207	p.Asp99His	rs1319126868	missense variant	-	NC_000017.11:g.61400471G>C	gnomAD
TBX2	Q13207	p.Glu102Lys	rs1387725570	missense variant	-	NC_000017.11:g.61400480G>A	gnomAD
TBX2	Q13207	p.Glu102Asp	rs1303802329	missense variant	-	NC_000017.11:g.61400482G>C	gnomAD
TBX2	Q13207	p.Asp104Tyr	rs1329600365	missense variant	-	NC_000017.11:g.61400486G>T	gnomAD
TBX2	Q13207	p.Pro105Ser	rs1264566568	missense variant	-	NC_000017.11:g.61400489C>T	TOPMed
TBX2	Q13207	p.Lys106Arg	rs1331302385	missense variant	-	NC_000017.11:g.61400493A>G	gnomAD
TBX2	Q13207	p.Thr108Met	rs753638712	missense variant	-	NC_000017.11:g.61400499C>T	ExAC,gnomAD
TBX2	Q13207	p.Lys112Asn	rs749885279	missense variant	-	NC_000017.11:g.61400512G>T	ExAC,gnomAD
TBX2	Q13207	p.Lys112Arg	rs778763621	missense variant	-	NC_000017.11:g.61400511A>G	ExAC,gnomAD
TBX2	Q13207	p.Asp116Tyr	rs746678515	missense variant	-	NC_000017.11:g.61400522G>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Asp116Asn	rs746678515	missense variant	-	NC_000017.11:g.61400522G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gln117Ter	rs1156245231	stop gained	-	NC_000017.11:g.61400525C>T	gnomAD
TBX2	Q13207	p.Val126Ile	rs371215240	missense variant	-	NC_000017.11:g.61400552G>A	ESP,ExAC,gnomAD
TBX2	Q13207	p.Ile127Thr	rs749342198	missense variant	-	NC_000017.11:g.61400556T>C	ExAC,gnomAD
TBX2	Q13207	p.Ile127Val	rs1404632537	missense variant	-	NC_000017.11:g.61400555A>G	gnomAD
TBX2	Q13207	p.Ser130Thr	rs1352483701	missense variant	-	NC_000017.11:g.61400564T>A	gnomAD
TBX2	Q13207	p.Gly131Arg	rs1226661043	missense variant	-	NC_000017.11:g.61400567G>A	gnomAD
TBX2	Q13207	p.Arg133Gln	COSM4546355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401686G>A	NCI-TCGA Cosmic
TBX2	Q13207	p.Met134Ile	rs1215572992	missense variant	-	NC_000017.11:g.61401690G>C	TOPMed
TBX2	Q13207	p.Met134Leu	rs1359893522	missense variant	-	NC_000017.11:g.61401688A>C	gnomAD
TBX2	Q13207	p.Pro137Thr	rs778364019	missense variant	-	NC_000017.11:g.61401697C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro137Arg	rs771628572	missense variant	-	NC_000017.11:g.61401698C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro137His	rs771628572	missense variant	-	NC_000017.11:g.61401698C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro137Ser	rs778364019	missense variant	-	NC_000017.11:g.61401697C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro137Ala	rs778364019	missense variant	-	NC_000017.11:g.61401697C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro137Leu	rs771628572	missense variant	-	NC_000017.11:g.61401698C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Phe138SerPheSerTerUnkUnk	COSM1723310	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61401693C>-	NCI-TCGA Cosmic
TBX2	Q13207	p.Lys139Arg	rs772288115	missense variant	-	NC_000017.11:g.61401704A>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Lys139Gln	rs1450119103	missense variant	-	NC_000017.11:g.61401703A>C	TOPMed
TBX2	Q13207	p.Lys139Thr	rs772288115	missense variant	-	NC_000017.11:g.61401704A>C	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg141Gln	rs761600564	missense variant	-	NC_000017.11:g.61401710G>A	ExAC,gnomAD
TBX2	Q13207	p.Val142Leu	rs139125476	missense variant	-	NC_000017.11:g.61401712G>C	ESP,TOPMed,gnomAD
TBX2	Q13207	p.Ser143Arg	rs147490001	missense variant	-	NC_000017.11:g.61401717C>G	ESP,TOPMed,gnomAD
TBX2	Q13207	p.Ser143Arg	rs147490001	missense variant	-	NC_000017.11:g.61401717C>A	ESP,TOPMed,gnomAD
TBX2	Q13207	p.Gly144Ser	rs1183731294	missense variant	-	NC_000017.11:g.61401718G>A	TOPMed
TBX2	Q13207	p.Lys148Gln	rs148128428	missense variant	-	NC_000017.11:g.61401730A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala149Val	rs766344994	missense variant	-	NC_000017.11:g.61401734C>T	ExAC,gnomAD
TBX2	Q13207	p.Tyr151Cys	rs200545971	missense variant	-	NC_000017.11:g.61401740A>G	ESP,TOPMed,gnomAD
TBX2	Q13207	p.Ile152Phe	rs369378137	missense variant	-	NC_000017.11:g.61401742A>T	ESP,TOPMed,gnomAD
TBX2	Q13207	p.Ile152Ser	rs751063145	missense variant	-	NC_000017.11:g.61401743T>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ile152Asn	rs751063145	missense variant	-	NC_000017.11:g.61401743T>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Met155Thr	rs141951250	missense variant	-	NC_000017.11:g.61401752T>C	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Met155Ile	rs1347873514	missense variant	-	NC_000017.11:g.61401753G>A	gnomAD
TBX2	Q13207	p.Met155Val	rs754473056	missense variant	-	NC_000017.11:g.61401751A>G	ExAC,gnomAD
TBX2	Q13207	p.Met155Leu	COSM4940533	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401751A>T	NCI-TCGA Cosmic
TBX2	Q13207	p.Asp156Asn	rs1358368341	missense variant	-	NC_000017.11:g.61401754G>A	TOPMed
TBX2	Q13207	p.Ile157Met	rs752299385	missense variant	-	NC_000017.11:g.61401759T>G	ExAC,gnomAD
TBX2	Q13207	p.Ala160Thr	rs1229581007	missense variant	-	NC_000017.11:g.61401766G>A	TOPMed
TBX2	Q13207	p.Asp161Glu	rs1321130948	missense variant	-	NC_000017.11:g.61401771C>A	TOPMed,gnomAD
TBX2	Q13207	p.Asp162Asn	rs1346822633	missense variant	-	NC_000017.11:g.61401772G>A	gnomAD
TBX2	Q13207	p.Cys163Tyr	rs1034013843	missense variant	-	NC_000017.11:g.61401776G>A	TOPMed
TBX2	Q13207	p.Asn169Ser	rs1217985899	missense variant	-	NC_000017.11:g.61401794A>G	TOPMed,gnomAD
TBX2	Q13207	p.Ser170Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401797C>G	NCI-TCGA
TBX2	Q13207	p.Ser170Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401797C>T	NCI-TCGA
TBX2	Q13207	p.Arg171Leu	rs778275904	missense variant	-	NC_000017.11:g.61401800G>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg171His	rs778275904	missense variant	-	NC_000017.11:g.61401800G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg171Cys	COSM982240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401799C>T	NCI-TCGA Cosmic
TBX2	Q13207	p.Gly176Asp	rs754291720	missense variant	-	NC_000017.11:g.61401815G>A	ExAC,gnomAD
TBX2	Q13207	p.Gly176Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401814G>T	NCI-TCGA
TBX2	Q13207	p.Lys177Asn	rs1025055045	missense variant	-	NC_000017.11:g.61401819G>T	TOPMed
TBX2	Q13207	p.Ala178Ser	rs950886535	missense variant	-	NC_000017.11:g.61401820G>T	TOPMed
TBX2	Q13207	p.Pro180Arg	rs1445727717	missense variant	-	NC_000017.11:g.61401827C>G	gnomAD
TBX2	Q13207	p.Glu181Lys	COSM3795893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401829G>A	NCI-TCGA Cosmic
TBX2	Q13207	p.Pro183Ser	rs779585007	missense variant	-	NC_000017.11:g.61401835C>T	ExAC,gnomAD
TBX2	Q13207	p.Pro183Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401835C>A	NCI-TCGA
TBX2	Q13207	p.Lys184Arg	rs1417358712	missense variant	-	NC_000017.11:g.61401839A>G	TOPMed
TBX2	Q13207	p.Arg185His	rs201793266	missense variant	-	NC_000017.11:g.61401842G>A	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg185Pro	rs201793266	missense variant	-	NC_000017.11:g.61401842G>C	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg185Leu	rs201793266	missense variant	-	NC_000017.11:g.61401842G>T	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg185Cys	rs745919438	missense variant	-	NC_000017.11:g.61401841C>T	ExAC,gnomAD
TBX2	Q13207	p.Met186Val	rs1204050449	missense variant	-	NC_000017.11:g.61401844A>G	gnomAD
TBX2	Q13207	p.Tyr187Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401848A>G	NCI-TCGA
TBX2	Q13207	p.Ile188Val	rs747185970	missense variant	-	NC_000017.11:g.61401850A>G	ExAC,gnomAD
TBX2	Q13207	p.His189Gln	rs573739161	missense variant	-	NC_000017.11:g.61401855C>G	1000Genomes,ExAC,gnomAD
TBX2	Q13207	p.Asp191His	rs1473859474	missense variant	-	NC_000017.11:g.61401859G>C	TOPMed
TBX2	Q13207	p.Ser192Ile	rs1161395863	missense variant	-	NC_000017.11:g.61401863G>T	gnomAD
TBX2	Q13207	p.Ala194Asp	rs374991370	missense variant	-	NC_000017.11:g.61401869C>A	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala194Thr	rs772959812	missense variant	-	NC_000017.11:g.61401868G>A	ExAC,gnomAD
TBX2	Q13207	p.Thr195Met	rs770811220	missense variant	-	NC_000017.11:g.61401872C>T	ExAC,gnomAD
TBX2	Q13207	p.Glu197Gln	rs1406453476	missense variant	-	NC_000017.11:g.61401877G>C	TOPMed,gnomAD
TBX2	Q13207	p.Glu197GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61401872_61401873insG	NCI-TCGA
TBX2	Q13207	p.Glu197SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61401873G>-	NCI-TCGA
TBX2	Q13207	p.Gln198Arg	rs1300900305	missense variant	-	NC_000017.11:g.61401881A>G	gnomAD
TBX2	Q13207	p.Gln198AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61401877_61401878insA	NCI-TCGA
TBX2	Q13207	p.Met200Thr	rs1409927318	missense variant	-	NC_000017.11:g.61401887T>C	gnomAD
TBX2	Q13207	p.Ala201Thr	rs759023058	missense variant	-	NC_000017.11:g.61401889G>A	ExAC,gnomAD
TBX2	Q13207	p.Pro203Ser	rs1349209832	missense variant	-	NC_000017.11:g.61401895C>T	TOPMed,gnomAD
TBX2	Q13207	p.Pro203His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401896C>A	NCI-TCGA
TBX2	Q13207	p.Val204Ala	rs1291107880	missense variant	-	NC_000017.11:g.61401899T>C	gnomAD
TBX2	Q13207	p.Phe206Tyr	rs752316214	missense variant	-	NC_000017.11:g.61401905T>A	ExAC,gnomAD
TBX2	Q13207	p.Phe206Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401906C>A	NCI-TCGA
TBX2	Q13207	p.His207Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401907C>T	NCI-TCGA
TBX2	Q13207	p.Lys208Arg	rs760368587	missense variant	-	NC_000017.11:g.61401911A>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Lys208Met	rs760368587	missense variant	-	NC_000017.11:g.61401911A>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Leu209Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401913C>A	NCI-TCGA
TBX2	Q13207	p.Ile215Val	rs1231220422	missense variant	-	NC_000017.11:g.61401931A>G	gnomAD
TBX2	Q13207	p.Asp217Tyr	rs757727651	missense variant	-	NC_000017.11:g.61401937G>T	ExAC,gnomAD
TBX2	Q13207	p.Asp217Glu	rs1453660758	missense variant	-	NC_000017.11:g.61401939C>A	TOPMed,gnomAD
TBX2	Q13207	p.Lys218Glu	COSM4068407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61401940A>G	NCI-TCGA Cosmic
TBX2	Q13207	p.His219Gln	rs779408815	missense variant	-	NC_000017.11:g.61401945C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.His219Leu	rs1404152384	missense variant	-	NC_000017.11:g.61401944A>T	TOPMed
TBX2	Q13207	p.His219Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61401943C>T	NCI-TCGA
TBX2	Q13207	p.Gly220Ser	rs759002822	missense variant	-	NC_000017.11:g.61401946G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ile223Val	rs773427151	missense variant	-	NC_000017.11:g.61403064A>G	ExAC,gnomAD
TBX2	Q13207	p.Leu224Val	rs763398451	missense variant	-	NC_000017.11:g.61403067C>G	ExAC,gnomAD
TBX2	Q13207	p.His228Tyr	rs1274588227	missense variant	-	NC_000017.11:g.61403079C>T	TOPMed
TBX2	Q13207	p.Pro232Thr	rs1355609945	missense variant	-	NC_000017.11:g.61403091C>A	TOPMed
TBX2	Q13207	p.Pro232Ser	COSM4068408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61403091C>T	NCI-TCGA Cosmic
TBX2	Q13207	p.Arg233Leu	rs754996717	missense variant	-	NC_000017.11:g.61403095G>T	ExAC,gnomAD
TBX2	Q13207	p.Ile236Val	rs1468757353	missense variant	-	NC_000017.11:g.61403103A>G	gnomAD
TBX2	Q13207	p.Ile236Thr	rs1336648384	missense variant	-	NC_000017.11:g.61403104T>C	TOPMed,gnomAD
TBX2	Q13207	p.Val237Leu	rs767574262	missense variant	-	NC_000017.11:g.61403106G>C	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg238Gln	rs1316618064	missense variant	-	NC_000017.11:g.61403110G>A	gnomAD
TBX2	Q13207	p.Asn240Ile	rs1410671793	missense variant	-	NC_000017.11:g.61403116A>T	TOPMed
TBX2	Q13207	p.Asn240Lys	rs970533000	missense variant	-	NC_000017.11:g.61403117C>A	TOPMed,gnomAD
TBX2	Q13207	p.Asp241His	rs1234208260	missense variant	-	NC_000017.11:g.61403118G>C	TOPMed,gnomAD
TBX2	Q13207	p.Asp241Gly	COSM1303143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61403119A>G	NCI-TCGA Cosmic
TBX2	Q13207	p.Ser248Asn	rs1167768748	missense variant	-	NC_000017.11:g.61403140G>A	TOPMed
TBX2	Q13207	p.Thr249Ile	rs778075071	missense variant	-	NC_000017.11:g.61403143C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Thr249Ser	rs756265719	missense variant	-	NC_000017.11:g.61403142A>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg251His	rs374486125	missense variant	-	NC_000017.11:g.61403149G>A	ESP,ExAC,gnomAD
TBX2	Q13207	p.Thr252Asn	rs1206700661	missense variant	-	NC_000017.11:g.61403152C>A	gnomAD
TBX2	Q13207	p.Thr252Ala	COSM1384980	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61403151A>G	NCI-TCGA Cosmic
TBX2	Q13207	p.Val254Met	rs201360135	missense variant	-	NC_000017.11:g.61403157G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Val254Leu	rs201360135	missense variant	-	NC_000017.11:g.61403157G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Val254Leu	rs201360135	missense variant	-	NC_000017.11:g.61403157G>C	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro256Ser	rs957229121	missense variant	-	NC_000017.11:g.61403163C>T	TOPMed
TBX2	Q13207	p.Pro256Leu	rs1479173796	missense variant	-	NC_000017.11:g.61403164C>T	gnomAD
TBX2	Q13207	p.Thr258Ile	rs768782504	missense variant	-	NC_000017.11:g.61403170C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Asp259Gly	rs776252332	missense variant	-	NC_000017.11:g.61403173A>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Asp259Glu	rs747744056	missense variant	-	NC_000017.11:g.61403174C>A	ExAC,gnomAD
TBX2	Q13207	p.Ala262Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61403182C>T	NCI-TCGA
TBX2	Q13207	p.Val263Gly	rs1224520699	missense variant	-	NC_000017.11:g.61403185T>G	TOPMed
TBX2	Q13207	p.Gln267Glu	rs1292036296	missense variant	-	NC_000017.11:g.61403196C>G	TOPMed
TBX2	Q13207	p.Gln267His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61403198G>C	NCI-TCGA
TBX2	Q13207	p.Lys270Asn	rs763165207	missense variant	-	NC_000017.11:g.61403207G>C	ExAC,gnomAD
TBX2	Q13207	p.Lys270Glu	rs1289019954	missense variant	-	NC_000017.11:g.61403205A>G	gnomAD
TBX2	Q13207	p.Leu274Met	rs373803011	missense variant	-	NC_000017.11:g.61404430C>A	ESP,TOPMed,gnomAD
TBX2	Q13207	p.Asn278Tyr	rs1380302085	missense variant	-	NC_000017.11:g.61404442A>T	gnomAD
TBX2	Q13207	p.Pro280Gln	rs762064809	missense variant	-	NC_000017.11:g.61404449C>A	ExAC,gnomAD
TBX2	Q13207	p.Phe281Ser	COSM982242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61404452T>C	NCI-TCGA Cosmic
TBX2	Q13207	p.Asp287Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61404469G>A	NCI-TCGA
TBX2	Q13207	p.Thr288Ser	rs754853668	missense variant	-	NC_000017.11:g.61404473C>G	ExAC,gnomAD
TBX2	Q13207	p.Gly289Arg	rs781211904	missense variant	-	NC_000017.11:g.61404475G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Asn290Tyr	COSM706583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61404478A>T	NCI-TCGA Cosmic
TBX2	Q13207	p.Arg293Trp	rs756068959	missense variant	-	NC_000017.11:g.61404487C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Glu294Gln	rs748794461	missense variant	-	NC_000017.11:g.61404490G>C	ExAC,gnomAD
TBX2	Q13207	p.Arg296Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61404497G>T	NCI-TCGA
TBX2	Q13207	p.Thr300Met	rs769157834	missense variant	-	NC_000017.11:g.61404617C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Thr300Arg	rs769157834	missense variant	-	NC_000017.11:g.61404617C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro302Thr	rs1292808774	missense variant	-	NC_000017.11:g.61404622C>A	gnomAD
TBX2	Q13207	p.Pro302Leu	rs1490890241	missense variant	-	NC_000017.11:g.61404623C>T	TOPMed,gnomAD
TBX2	Q13207	p.Pro302Gln	rs1490890241	missense variant	-	NC_000017.11:g.61404623C>A	TOPMed,gnomAD
TBX2	Q13207	p.Leu304Pro	rs146171999	missense variant	-	NC_000017.11:g.61404629T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Leu304Val	rs200245762	missense variant	-	NC_000017.11:g.61404628C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg305Ser	rs201407399	missense variant	-	NC_000017.11:g.61404631C>A	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg305His	rs1555877071	missense variant	Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD)	NC_000017.11:g.61404632G>A	UniProt,dbSNP
TBX2	Q13207	p.Arg305His	VAR_081781	missense variant	Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD)	NC_000017.11:g.61404632G>A	UniProt
TBX2	Q13207	p.Arg305His	rs1555877071	missense variant	-	NC_000017.11:g.61404632G>A	-
TBX2	Q13207	p.Arg305His	RCV000624455	missense variant	Inborn genetic diseases	NC_000017.11:g.61404632G>A	ClinVar
TBX2	Q13207	p.Glu308Gln	rs766552926	missense variant	-	NC_000017.11:g.61404640G>C	ExAC,gnomAD
TBX2	Q13207	p.Cys311Arg	rs1426131745	missense variant	-	NC_000017.11:g.61404649T>C	gnomAD
TBX2	Q13207	p.Glu314Lys	rs760414139	missense variant	-	NC_000017.11:g.61404658G>A	ExAC,gnomAD
TBX2	Q13207	p.Arg315Gly	rs764022876	missense variant	-	NC_000017.11:g.61404661C>G	ExAC,gnomAD
TBX2	Q13207	p.Asp316Asn	rs753784724	missense variant	-	NC_000017.11:g.61404664G>A	ExAC,gnomAD
TBX2	Q13207	p.Asp316Glu	rs1300270436	missense variant	-	NC_000017.11:g.61404666T>G	TOPMed
TBX2	Q13207	p.Gly317Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61404668G>T	NCI-TCGA
TBX2	Q13207	p.Ala318Thr	rs1292917610	missense variant	-	NC_000017.11:g.61404670G>A	gnomAD
TBX2	Q13207	p.Ala318Val	rs376284632	missense variant	-	NC_000017.11:g.61404671C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala318Glu	rs376284632	missense variant	-	NC_000017.11:g.61404671C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Asp321Asn	rs749975428	missense variant	-	NC_000017.11:g.61404679G>A	ExAC,gnomAD
TBX2	Q13207	p.Asp321Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61404681C>A	NCI-TCGA
TBX2	Q13207	p.Ala322Val	rs139114561	missense variant	-	NC_000017.11:g.61404683C>T	ESP
TBX2	Q13207	p.Ala322Ser	rs1164565625	missense variant	-	NC_000017.11:g.61404682G>T	gnomAD
TBX2	Q13207	p.Ser323Trp	rs1438473592	missense variant	-	NC_000017.11:g.61404686C>G	gnomAD
TBX2	Q13207	p.Ser324Leu	rs371433791	missense variant	-	NC_000017.11:g.61404689C>T	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ser324Trp	rs371433791	missense variant	-	NC_000017.11:g.61404689C>G	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Asp326Tyr	rs779596450	missense variant	-	NC_000017.11:g.61404694G>T	ExAC
TBX2	Q13207	p.Pro327Leu	rs1468503229	missense variant	-	NC_000017.11:g.61404698C>T	TOPMed,gnomAD
TBX2	Q13207	p.Pro328Leu	rs755304221	missense variant	-	NC_000017.11:g.61404701C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro328Thr	rs747359210	missense variant	-	NC_000017.11:g.61404700C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro328Ser	rs747359210	missense variant	-	NC_000017.11:g.61404700C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro329Arg	rs182290035	missense variant	-	NC_000017.11:g.61404704C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro329Ala	rs866923288	missense variant	-	NC_000017.11:g.61404703C>G	TOPMed,gnomAD
TBX2	Q13207	p.Pro329His	rs182290035	missense variant	-	NC_000017.11:g.61404704C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro329Ser	rs866923288	missense variant	-	NC_000017.11:g.61404703C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ala330Ser	rs113676723	missense variant	-	NC_000017.11:g.61404706G>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg331Trp	rs770492149	missense variant	-	NC_000017.11:g.61404709C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro333Thr	rs1316239426	missense variant	-	NC_000017.11:g.61404715C>A	TOPMed,gnomAD
TBX2	Q13207	p.Pro333Leu	rs1385424993	missense variant	-	NC_000017.11:g.61404716C>T	gnomAD
TBX2	Q13207	p.Pro337Ser	rs1216439787	missense variant	-	NC_000017.11:g.61404727C>T	gnomAD
TBX2	Q13207	p.Gly338Asp	rs1197921404	missense variant	-	NC_000017.11:g.61404731G>A	gnomAD
TBX2	Q13207	p.Gly338Ser	rs1456426459	missense variant	-	NC_000017.11:g.61404730G>A	gnomAD
TBX2	Q13207	p.Ala339Ser	rs1462495530	missense variant	-	NC_000017.11:g.61404733G>T	gnomAD
TBX2	Q13207	p.Ala339Glu	rs1181469768	missense variant	-	NC_000017.11:g.61404734C>A	gnomAD
TBX2	Q13207	p.Pro343Leu	rs768320221	missense variant	-	NC_000017.11:g.61404746C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg345His	rs370843795	missense variant	-	NC_000017.11:g.61404752G>A	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg345Leu	rs370843795	missense variant	-	NC_000017.11:g.61404752G>T	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.His347Gln	rs1328769835	missense variant	-	NC_000017.11:g.61404759C>A	TOPMed
TBX2	Q13207	p.His347Pro	rs1465619424	missense variant	-	NC_000017.11:g.61404758A>C	gnomAD
TBX2	Q13207	p.Arg348Gln	rs1408871032	missense variant	-	NC_000017.11:g.61404761G>A	TOPMed,gnomAD
TBX2	Q13207	p.Arg348Gly	rs934306736	missense variant	-	NC_000017.11:g.61404760C>G	TOPMed,gnomAD
TBX2	Q13207	p.Ala349Asp	rs943459389	missense variant	-	NC_000017.11:g.61404764C>A	gnomAD
TBX2	Q13207	p.Arg350Gln	rs1327292367	missense variant	-	NC_000017.11:g.61404767G>A	TOPMed,gnomAD
TBX2	Q13207	p.Arg350Gly	rs569358507	missense variant	-	NC_000017.11:g.61404766C>G	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala351Thr	rs1433129297	missense variant	-	NC_000017.11:g.61404769G>A	TOPMed,gnomAD
TBX2	Q13207	p.Lys354Glu	rs1200860470	missense variant	-	NC_000017.11:g.61405210A>G	TOPMed
TBX2	Q13207	p.Ser355Leu	rs1277037820	missense variant	-	NC_000017.11:g.61405214C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ser355Ter	rs1277037820	stop gained	-	NC_000017.11:g.61405214C>A	TOPMed,gnomAD
TBX2	Q13207	p.Ser355Thr	rs1333167168	missense variant	-	NC_000017.11:g.61405213T>A	TOPMed
TBX2	Q13207	p.Cys356Arg	rs535294444	missense variant	-	NC_000017.11:g.61405216T>C	gnomAD
TBX2	Q13207	p.Ser360Asn	rs1006930529	missense variant	-	NC_000017.11:g.61405229G>A	TOPMed
TBX2	Q13207	p.Asp361Asn	rs1269676383	missense variant	-	NC_000017.11:g.61405231G>A	TOPMed,gnomAD
TBX2	Q13207	p.Asp361Tyr	rs1269676383	missense variant	-	NC_000017.11:g.61405231G>T	TOPMed,gnomAD
TBX2	Q13207	p.Glu363Asp	rs1192851196	missense variant	-	NC_000017.11:g.61405239G>T	gnomAD
TBX2	Q13207	p.Pro364Leu	rs1422904411	missense variant	-	NC_000017.11:g.61405241C>T	gnomAD
TBX2	Q13207	p.Glu365Lys	rs749180743	missense variant	-	NC_000017.11:g.61405243G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Glu365Gly	rs1362107893	missense variant	-	NC_000017.11:g.61405244A>G	TOPMed,gnomAD
TBX2	Q13207	p.Glu365Gln	rs749180743	missense variant	-	NC_000017.11:g.61405243G>C	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg366Gln	rs1297108502	missense variant	-	NC_000017.11:g.61405247G>A	gnomAD
TBX2	Q13207	p.Ser368Ile	rs770945114	missense variant	-	NC_000017.11:g.61405253G>T	ExAC,gnomAD
TBX2	Q13207	p.Glu369Gln	rs1273598196	missense variant	-	NC_000017.11:g.61405255G>C	TOPMed,gnomAD
TBX2	Q13207	p.Glu369Lys	rs1273598196	missense variant	-	NC_000017.11:g.61405255G>A	TOPMed,gnomAD
TBX2	Q13207	p.Glu369Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61405255G>T	NCI-TCGA
TBX2	Q13207	p.Arg371Pro	rs759112967	missense variant	-	NC_000017.11:g.61405262G>C	ExAC,gnomAD
TBX2	Q13207	p.Arg371His	rs759112967	missense variant	-	NC_000017.11:g.61405262G>A	ExAC,gnomAD
TBX2	Q13207	p.Arg371Cys	rs773715475	missense variant	-	NC_000017.11:g.61405261C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala372Val	rs1162880145	missense variant	-	NC_000017.11:g.61405265C>T	TOPMed
TBX2	Q13207	p.Gly373Ala	rs767208687	missense variant	-	NC_000017.11:g.61405268G>C	ExAC,gnomAD
TBX2	Q13207	p.Gly373Arg	rs1351851521	missense variant	-	NC_000017.11:g.61405267G>A	gnomAD
TBX2	Q13207	p.Gly373Glu	rs767208687	missense variant	-	NC_000017.11:g.61405268G>A	ExAC,gnomAD
TBX2	Q13207	p.Ala374Thr	rs775291426	missense variant	-	NC_000017.11:g.61405270G>A	ExAC,gnomAD
TBX2	Q13207	p.Pro375Leu	rs1490863515	missense variant	-	NC_000017.11:g.61405274C>T	gnomAD
TBX2	Q13207	p.Arg378His	rs754268053	missense variant	-	NC_000017.11:g.61405283G>A	ExAC,gnomAD
TBX2	Q13207	p.Ser379Arg	rs1177617905	missense variant	-	NC_000017.11:g.61405287C>A	gnomAD
TBX2	Q13207	p.Pro380Arg	rs765795326	missense variant	-	NC_000017.11:g.61405289C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro380Gln	rs765795326	missense variant	-	NC_000017.11:g.61405289C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro380Ala	rs1381926323	missense variant	-	NC_000017.11:g.61405288C>G	gnomAD
TBX2	Q13207	p.Pro380Leu	rs765795326	missense variant	-	NC_000017.11:g.61405289C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala381Val	rs750429318	missense variant	-	NC_000017.11:g.61405292C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala381Pro	rs1385413906	missense variant	-	NC_000017.11:g.61405291G>C	gnomAD
TBX2	Q13207	p.Asp383Gly	rs1320972167	missense variant	-	NC_000017.11:g.61405298A>G	gnomAD
TBX2	Q13207	p.Ser384Arg	rs1443542556	missense variant	-	NC_000017.11:g.61405302C>A	TOPMed,gnomAD
TBX2	Q13207	p.Ser384Arg	rs1349852273	missense variant	-	NC_000017.11:g.61405300A>C	gnomAD
TBX2	Q13207	p.Ala385Thr	rs758477912	missense variant	-	NC_000017.11:g.61405303G>A	ExAC,gnomAD
TBX2	Q13207	p.Ala385Ser	rs758477912	missense variant	-	NC_000017.11:g.61405303G>T	ExAC,gnomAD
TBX2	Q13207	p.Ser386Gly	rs1375148456	missense variant	-	NC_000017.11:g.61405306A>G	gnomAD
TBX2	Q13207	p.Arg389Cys	rs1316021986	missense variant	-	NC_000017.11:g.61405315C>T	gnomAD
TBX2	Q13207	p.Arg389His	rs1358687419	missense variant	-	NC_000017.11:g.61405316G>A	gnomAD
TBX2	Q13207	p.Arg389Leu	rs1358687419	missense variant	-	NC_000017.11:g.61405316G>T	gnomAD
TBX2	Q13207	p.Arg389Ser	rs1316021986	missense variant	-	NC_000017.11:g.61405315C>A	gnomAD
TBX2	Q13207	p.Thr391Ile	rs1196379865	missense variant	-	NC_000017.11:g.61405322C>T	TOPMed,gnomAD
TBX2	Q13207	p.Thr391Asn	rs1196379865	missense variant	-	NC_000017.11:g.61405322C>A	TOPMed,gnomAD
TBX2	Q13207	p.Pro393His	rs1352333884	missense variant	-	NC_000017.11:g.61405328C>A	TOPMed
TBX2	Q13207	p.Pro393Leu	rs1352333884	missense variant	-	NC_000017.11:g.61405328C>T	TOPMed
TBX2	Q13207	p.Pro393Ser	rs1451026995	missense variant	-	NC_000017.11:g.61405327C>T	TOPMed,gnomAD
TBX2	Q13207	p.Glu394Gly	rs1239861226	missense variant	-	NC_000017.11:g.61405331A>G	gnomAD
TBX2	Q13207	p.Ala396Val	rs1177730387	missense variant	-	NC_000017.11:g.61405337C>T	gnomAD
TBX2	Q13207	p.Ala396Ser	rs1456287464	missense variant	-	NC_000017.11:g.61405336G>T	gnomAD
TBX2	Q13207	p.Arg397Pro	rs1161004743	missense variant	-	NC_000017.11:g.61405340G>C	gnomAD
TBX2	Q13207	p.Arg397Gly	rs1473559483	missense variant	-	NC_000017.11:g.61405339C>G	gnomAD
TBX2	Q13207	p.Arg400Ser	rs914362509	missense variant	-	NC_000017.11:g.61405348C>A	TOPMed,gnomAD
TBX2	Q13207	p.Arg400Cys	rs914362509	missense variant	-	NC_000017.11:g.61405348C>T	TOPMed,gnomAD
TBX2	Q13207	p.Arg400His	rs1173468711	missense variant	-	NC_000017.11:g.61405349G>A	gnomAD
TBX2	Q13207	p.Ser401Cys	rs1398672049	missense variant	-	NC_000017.11:g.61405351A>T	gnomAD
TBX2	Q13207	p.Arg404Ser	rs140610908	missense variant	-	NC_000017.11:g.61405362G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg404Gly	rs1446547578	missense variant	-	NC_000017.11:g.61405360A>G	gnomAD
TBX2	Q13207	p.Lys406Glu	rs745310839	missense variant	-	NC_000017.11:g.61405366A>G	ExAC,gnomAD
TBX2	Q13207	p.Glu407Val	rs1340160900	missense variant	-	NC_000017.11:g.61405370A>T	gnomAD
TBX2	Q13207	p.Glu407Lys	rs1283743763	missense variant	-	NC_000017.11:g.61405369G>A	gnomAD
TBX2	Q13207	p.Pro408Leu	rs1220486832	missense variant	-	NC_000017.11:g.61405373C>T	gnomAD
TBX2	Q13207	p.Ala409Val	rs1197824727	missense variant	-	NC_000017.11:g.61405376C>T	gnomAD
TBX2	Q13207	p.Ala409Thr	rs775203048	missense variant	-	NC_000017.11:g.61405375G>A	ExAC,gnomAD
TBX2	Q13207	p.Glu410Gln	rs760370525	missense variant	-	NC_000017.11:g.61405378G>C	ExAC,gnomAD
TBX2	Q13207	p.Glu410Lys	rs760370525	missense variant	-	NC_000017.11:g.61405378G>A	ExAC,gnomAD
TBX2	Q13207	p.Ser411Gly	rs776810510	missense variant	-	NC_000017.11:g.61405381A>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly412Asp	rs200287309	missense variant	-	NC_000017.11:g.61405385G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly412Cys	rs762268506	missense variant	-	NC_000017.11:g.61405384G>T	ExAC,gnomAD
TBX2	Q13207	p.Gly413Trp	rs1475466397	missense variant	-	NC_000017.11:g.61405387G>T	TOPMed,gnomAD
TBX2	Q13207	p.Asp414Gly	rs1195162033	missense variant	-	NC_000017.11:g.61405391A>G	gnomAD
TBX2	Q13207	p.Asp414Glu	rs918388666	missense variant	-	NC_000017.11:g.61405392C>G	TOPMed,gnomAD
TBX2	Q13207	p.Gly415Arg	rs1487669720	missense variant	-	NC_000017.11:g.61405393G>C	TOPMed
TBX2	Q13207	p.Pro416Leu	rs750954217	missense variant	-	NC_000017.11:g.61405397C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly418Ser	rs1177673569	missense variant	-	NC_000017.11:g.61405402G>A	TOPMed,gnomAD
TBX2	Q13207	p.Arg420Lys	rs1404797816	missense variant	-	NC_000017.11:g.61405409G>A	gnomAD
TBX2	Q13207	p.Ser421Asn	rs766443447	missense variant	-	NC_000017.11:g.61405412G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ser421Ile	rs766443447	missense variant	-	NC_000017.11:g.61405412G>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Glu425Gly	rs1327195802	missense variant	-	NC_000017.11:g.61405424A>G	gnomAD
TBX2	Q13207	p.Arg426Ser	rs1401962009	missense variant	-	NC_000017.11:g.61405426C>A	gnomAD
TBX2	Q13207	p.Ala427Gly	rs1338406966	missense variant	-	NC_000017.11:g.61405430C>G	TOPMed,gnomAD
TBX2	Q13207	p.Ala427Val	rs1338406966	missense variant	-	NC_000017.11:g.61405430C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ala427Thr	rs1057986	missense variant	-	NC_000017.11:g.61405429G>A	TOPMed
TBX2	Q13207	p.Ala427Pro	rs1057986	missense variant	-	NC_000017.11:g.61405429G>C	TOPMed
TBX2	Q13207	p.Glu428Gly	rs755172964	missense variant	-	NC_000017.11:g.61405433A>G	ExAC,gnomAD
TBX2	Q13207	p.Ala429Ser	rs568419315	missense variant	-	NC_000017.11:g.61405435G>T	1000Genomes,gnomAD
TBX2	Q13207	p.Arg430Gln	COSM4913106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61405439G>A	NCI-TCGA Cosmic
TBX2	Q13207	p.Lys432Arg	rs1198462287	missense variant	-	NC_000017.11:g.61405445A>G	TOPMed,gnomAD
TBX2	Q13207	p.Asp433Glu	rs1388447996	missense variant	-	NC_000017.11:g.61405449C>G	gnomAD
TBX2	Q13207	p.Glu434Asp	rs1277509249	missense variant	-	NC_000017.11:g.61405452G>C	gnomAD
TBX2	Q13207	p.Gly435Glu	rs1218225060	missense variant	-	NC_000017.11:g.61405454G>A	TOPMed,gnomAD
TBX2	Q13207	p.Gly435Arg	rs781502221	missense variant	-	NC_000017.11:g.61405453G>A	ExAC,gnomAD
TBX2	Q13207	p.Arg436Leu	rs753540297	missense variant	-	NC_000017.11:g.61405457G>T	ExAC,TOPMed
TBX2	Q13207	p.Ala439Thr	rs1260389628	missense variant	-	NC_000017.11:g.61405465G>A	gnomAD
TBX2	Q13207	p.Ala439Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405466C>T	NCI-TCGA
TBX2	Q13207	p.Ala440Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405469C>T	NCI-TCGA
TBX2	Q13207	p.Glu441Lys	rs1379822721	missense variant	-	NC_000017.11:g.61405471G>A	TOPMed,gnomAD
TBX2	Q13207	p.Gly442Asp	rs371850274	missense variant	-	NC_000017.11:g.61405475G>A	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Glu444Lys	rs1477316009	missense variant	-	NC_000017.11:g.61405480G>A	TOPMed
TBX2	Q13207	p.Gln445Arg	rs772174118	missense variant	-	NC_000017.11:g.61405484A>G	ExAC
TBX2	Q13207	p.Gly446Asp	rs779687743	missense variant	-	NC_000017.11:g.61405487G>A	ExAC,gnomAD
TBX2	Q13207	p.Gly446Ser	rs1386004099	missense variant	-	NC_000017.11:g.61405486G>A	gnomAD
TBX2	Q13207	p.Ala448Glu	rs776350683	missense variant	-	NC_000017.11:g.61405493C>A	ExAC,gnomAD
TBX2	Q13207	p.Ala448Val	rs776350683	missense variant	-	NC_000017.11:g.61405493C>T	ExAC,gnomAD
TBX2	Q13207	p.Ala448Gly	rs776350683	missense variant	-	NC_000017.11:g.61405493C>G	ExAC,gnomAD
TBX2	Q13207	p.Ala448Thr	rs768152749	missense variant	-	NC_000017.11:g.61405492G>A	ExAC,gnomAD
TBX2	Q13207	p.Leu450Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405498C>A	NCI-TCGA
TBX2	Q13207	p.Val451Met	rs1230845044	missense variant	-	NC_000017.11:g.61405501G>A	gnomAD
TBX2	Q13207	p.Ala457Thr	rs952398664	missense variant	-	NC_000017.11:g.61405519G>A	TOPMed,gnomAD
TBX2	Q13207	p.Ala457Val	rs1241863002	missense variant	-	NC_000017.11:g.61405520C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ser458Phe	rs762026215	missense variant	-	NC_000017.11:g.61405523C>T	ExAC,gnomAD
TBX2	Q13207	p.Pro459Leu	rs1249443087	missense variant	-	NC_000017.11:g.61405526C>T	TOPMed
TBX2	Q13207	p.Pro459Ala	rs770182659	missense variant	-	NC_000017.11:g.61405525C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro459Thr	rs770182659	missense variant	-	NC_000017.11:g.61405525C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Leu460Arg	rs763421585	missense variant	-	NC_000017.11:g.61405529T>G	ExAC,gnomAD
TBX2	Q13207	p.Leu460Pro	rs763421585	missense variant	-	NC_000017.11:g.61405529T>C	ExAC,gnomAD
TBX2	Q13207	p.Gly461Ala	rs1450366449	missense variant	-	NC_000017.11:g.61405532G>C	gnomAD
TBX2	Q13207	p.Gly461Asp	rs1450366449	missense variant	-	NC_000017.11:g.61405532G>A	gnomAD
TBX2	Q13207	p.Ala462Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405534G>A	NCI-TCGA
TBX2	Q13207	p.Gly463Arg	rs1381303968	missense variant	-	NC_000017.11:g.61405537G>C	TOPMed,gnomAD
TBX2	Q13207	p.Gly463Arg	rs1381303968	missense variant	-	NC_000017.11:g.61405537G>A	TOPMed,gnomAD
TBX2	Q13207	p.His464Pro	rs1441851413	missense variant	-	NC_000017.11:g.61405541A>C	gnomAD
TBX2	Q13207	p.His464Asn	rs1412936148	missense variant	-	NC_000017.11:g.61405540C>A	TOPMed
TBX2	Q13207	p.Pro466Leu	rs1425412705	missense variant	-	NC_000017.11:g.61405547C>T	gnomAD
TBX2	Q13207	p.Gly467Asp	rs866915098	missense variant	-	NC_000017.11:g.61405550G>A	-
TBX2	Q13207	p.Gly467Cys	rs767573539	missense variant	-	NC_000017.11:g.61405549G>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly467Ser	rs767573539	missense variant	-	NC_000017.11:g.61405549G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Leu468Met	rs1335432124	missense variant	-	NC_000017.11:g.61405552C>A	TOPMed
TBX2	Q13207	p.Leu468Pro	rs1322724409	missense variant	-	NC_000017.11:g.61405553T>C	TOPMed,gnomAD
TBX2	Q13207	p.Ala469Val	COSM706582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61405556C>T	NCI-TCGA Cosmic
TBX2	Q13207	p.Ala469Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405555G>A	NCI-TCGA
TBX2	Q13207	p.Ser471Pro	rs1377366453	missense variant	-	NC_000017.11:g.61405561T>C	gnomAD
TBX2	Q13207	p.Ser471Cys	rs144548309	missense variant	-	NC_000017.11:g.61405562C>G	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.His473Arg	rs1306662106	missense variant	-	NC_000017.11:g.61405568A>G	gnomAD
TBX2	Q13207	p.His475Pro	rs1352475758	missense variant	-	NC_000017.11:g.61405574A>C	gnomAD
TBX2	Q13207	p.Gly476Arg	rs1266677991	missense variant	-	NC_000017.11:g.61405576G>A	gnomAD
TBX2	Q13207	p.Pro482Ser	rs1239256156	missense variant	-	NC_000017.11:g.61405594C>T	gnomAD
TBX2	Q13207	p.Ala485Thr	rs1172382800	missense variant	-	NC_000017.11:g.61405603G>A	TOPMed
TBX2	Q13207	p.Gly486Ala	rs201229574	missense variant	-	NC_000017.11:g.61405607G>C	ExAC,gnomAD
TBX2	Q13207	p.Gly486Asp	rs201229574	missense variant	-	NC_000017.11:g.61405607G>A	ExAC,gnomAD
TBX2	Q13207	p.Gly486Ser	rs1177112706	missense variant	-	NC_000017.11:g.61405606G>A	gnomAD
TBX2	Q13207	p.Leu491Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405622T>C	NCI-TCGA
TBX2	Q13207	p.Thr497Ile	rs1400883677	missense variant	-	NC_000017.11:g.61405640C>T	gnomAD
TBX2	Q13207	p.Met498Val	rs375741598	missense variant	-	NC_000017.11:g.61405642A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly499Asp	rs780625185	missense variant	-	NC_000017.11:g.61405646G>A	ExAC,gnomAD
TBX2	Q13207	p.Pro500Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405648C>A	NCI-TCGA
TBX2	Q13207	p.Gly501Val	rs1162684137	missense variant	-	NC_000017.11:g.61405652G>T	TOPMed,gnomAD
TBX2	Q13207	p.Ala502Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405654G>A	NCI-TCGA
TBX2	Q13207	p.Ser504Cys	rs988878641	missense variant	-	NC_000017.11:g.61405661C>G	TOPMed
TBX2	Q13207	p.Ala505Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405663G>A	NCI-TCGA
TBX2	Q13207	p.Met506Ile	rs773546502	missense variant	-	NC_000017.11:g.61405668G>T	ExAC,gnomAD
TBX2	Q13207	p.Met506Thr	rs1243368065	missense variant	-	NC_000017.11:g.61405667T>C	gnomAD
TBX2	Q13207	p.Met506Val	rs568617957	missense variant	-	NC_000017.11:g.61405666A>G	1000Genomes,gnomAD
TBX2	Q13207	p.Gly509Asp	rs1284897259	missense variant	-	NC_000017.11:g.61405676G>A	TOPMed
TBX2	Q13207	p.His510Gln	rs1011114587	missense variant	-	NC_000017.11:g.61405680C>G	TOPMed,gnomAD
TBX2	Q13207	p.Ala513Gly	rs771391654	missense variant	-	NC_000017.11:g.61405688C>G	ExAC,gnomAD
TBX2	Q13207	p.Ala513Thr	rs1184100899	missense variant	-	NC_000017.11:g.61405687G>A	TOPMed
TBX2	Q13207	p.Ser514Trp	rs1447900446	missense variant	-	NC_000017.11:g.61405691C>G	TOPMed
TBX2	Q13207	p.Gly517Ala	rs537498833	missense variant	-	NC_000017.11:g.61405700G>C	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly517Asp	rs537498833	missense variant	-	NC_000017.11:g.61405700G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly518Ser	rs947384542	missense variant	-	NC_000017.11:g.61405702G>A	gnomAD
TBX2	Q13207	p.Gly521Ser	rs1254269281	missense variant	-	NC_000017.11:g.61405711G>A	gnomAD
TBX2	Q13207	p.Gly522Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405714G>A	NCI-TCGA
TBX2	Q13207	p.Gly523Asp	rs1163279475	missense variant	-	NC_000017.11:g.61405718G>A	TOPMed
TBX2	Q13207	p.Gly527Val	rs1467101516	missense variant	-	NC_000017.11:g.61405730G>T	gnomAD
TBX2	Q13207	p.Gly527Arg	rs1043451901	missense variant	-	NC_000017.11:g.61405729G>A	TOPMed,gnomAD
TBX2	Q13207	p.Ala530Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61405738G>A	NCI-TCGA
TBX2	Q13207	p.Gly531Glu	rs752757013	missense variant	-	NC_000017.11:g.61405742G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Asp533His	rs1466303780	missense variant	-	NC_000017.11:g.61405747G>C	TOPMed,gnomAD
TBX2	Q13207	p.Asp533Asn	rs1466303780	missense variant	-	NC_000017.11:g.61405747G>A	TOPMed,gnomAD
TBX2	Q13207	p.Gly535Asp	rs968525927	missense variant	-	NC_000017.11:g.61405754G>A	TOPMed
TBX2	Q13207	p.Gly536Arg	rs760926920	missense variant	-	NC_000017.11:g.61405756G>C	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala540Thr	rs1033976103	missense variant	-	NC_000017.11:g.61405768G>A	TOPMed
TBX2	Q13207	p.Ala541Ser	rs1436231841	missense variant	-	NC_000017.11:g.61405771G>T	TOPMed
TBX2	Q13207	p.Ala543Val	rs1323810054	missense variant	-	NC_000017.11:g.61405778C>T	TOPMed
TBX2	Q13207	p.Ala543Thr	rs1413672914	missense variant	-	NC_000017.11:g.61405777G>A	TOPMed,gnomAD
TBX2	Q13207	p.Ala543Ser	rs1413672914	missense variant	-	NC_000017.11:g.61405777G>T	TOPMed,gnomAD
TBX2	Q13207	p.Leu554Phe	rs758271503	missense variant	-	NC_000017.11:g.61405810C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.His557Asn	rs1217331636	missense variant	-	NC_000017.11:g.61405819C>A	gnomAD
TBX2	Q13207	p.Leu559Pro	rs751530121	missense variant	-	NC_000017.11:g.61405826T>C	ExAC,gnomAD
TBX2	Q13207	p.Leu559Val	rs766360652	missense variant	-	NC_000017.11:g.61405825C>G	ExAC,gnomAD
TBX2	Q13207	p.Gln562Lys	rs1157951417	missense variant	-	NC_000017.11:g.61405834C>A	TOPMed
TBX2	Q13207	p.Pro565Ala	rs144017258	missense variant	-	NC_000017.11:g.61408060C>G	ESP,ExAC,gnomAD
TBX2	Q13207	p.Met566Val	rs1311891914	missense variant	-	NC_000017.11:g.61408063A>G	TOPMed,gnomAD
TBX2	Q13207	p.Met566Ile	rs1288349046	missense variant	-	NC_000017.11:g.61408065G>T	gnomAD
TBX2	Q13207	p.Met566Thr	rs766245891	missense variant	-	NC_000017.11:g.61408064T>C	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Met566Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61408064T>G	NCI-TCGA
TBX2	Q13207	p.Pro567Leu	rs1487359387	missense variant	-	NC_000017.11:g.61408067C>T	gnomAD
TBX2	Q13207	p.Thr568Ser	rs1215930410	missense variant	-	NC_000017.11:g.61408070C>G	gnomAD
TBX2	Q13207	p.Phe569Ser	rs751465106	missense variant	-	NC_000017.11:g.61408073T>C	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly570Arg	rs767367190	missense variant	-	NC_000017.11:g.61408075G>A	ExAC,gnomAD
TBX2	Q13207	p.Gly571Ala	rs149083072	missense variant	-	NC_000017.11:g.61408079G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly571Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61408079G>A	NCI-TCGA
TBX2	Q13207	p.Pro574Ser	rs777352687	missense variant	-	NC_000017.11:g.61408087C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro576Thr	rs372888108	missense variant	-	NC_000017.11:g.61408093C>A	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro576Ser	rs372888108	missense variant	-	NC_000017.11:g.61408093C>T	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Thr578Ser	rs1460550911	missense variant	-	NC_000017.11:g.61408100C>G	TOPMed
TBX2	Q13207	p.Tyr579His	rs142190838	missense variant	-	NC_000017.11:g.61408102T>C	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Met580Lys	rs772565749	missense variant	-	NC_000017.11:g.61408106T>A	ExAC,gnomAD
TBX2	Q13207	p.Met580Val	rs746235173	missense variant	-	NC_000017.11:g.61408105A>G	ExAC,gnomAD
TBX2	Q13207	p.Ala583Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61408114G>T	NCI-TCGA
TBX2	Q13207	p.Ala584Val	rs768834035	missense variant	-	NC_000017.11:g.61408118C>T	ExAC,gnomAD
TBX2	Q13207	p.Ala584Thr	rs973646457	missense variant	-	NC_000017.11:g.61408117G>A	gnomAD
TBX2	Q13207	p.Ala585Thr	rs762120940	missense variant	-	NC_000017.11:g.61408120G>A	ExAC,gnomAD
TBX2	Q13207	p.Ala587Gly	rs1467885619	missense variant	-	NC_000017.11:g.61408127C>G	gnomAD
TBX2	Q13207	p.Ala587Thr	rs774135961	missense variant	-	NC_000017.11:g.61408126G>A	ExAC,gnomAD
TBX2	Q13207	p.Ala587Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61408127C>T	NCI-TCGA
TBX2	Q13207	p.Ser588Leu	rs1049878712	missense variant	-	NC_000017.11:g.61408130C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ala592Thr	rs760711917	missense variant	-	NC_000017.11:g.61408141G>A	ExAC,gnomAD
TBX2	Q13207	p.Thr593Asn	rs763593217	missense variant	-	NC_000017.11:g.61408145C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Thr593Pro	rs1304865429	missense variant	-	NC_000017.11:g.61408144A>C	TOPMed
TBX2	Q13207	p.Ser594Asn	rs756848247	missense variant	-	NC_000017.11:g.61408148G>A	ExAC,gnomAD
TBX2	Q13207	p.Ser594Gly	rs753406923	missense variant	-	NC_000017.11:g.61408147A>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala596Val	rs750762087	missense variant	-	NC_000017.11:g.61408154C>T	ExAC
TBX2	Q13207	p.Ala597Asp	rs758713361	missense variant	-	NC_000017.11:g.61408157C>A	ExAC,gnomAD
TBX2	Q13207	p.Ala597Val	rs758713361	missense variant	-	NC_000017.11:g.61408157C>T	ExAC,gnomAD
TBX2	Q13207	p.Ala598Gly	rs780517343	missense variant	-	NC_000017.11:g.61408160C>G	ExAC,gnomAD
TBX2	Q13207	p.Ala598Thr	rs1465190537	missense variant	-	NC_000017.11:g.61408159G>A	gnomAD
TBX2	Q13207	p.Ala598Val	rs780517343	missense variant	-	NC_000017.11:g.61408160C>T	ExAC,gnomAD
TBX2	Q13207	p.Ala599Val	rs781407433	missense variant	-	NC_000017.11:g.61408163C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala599Thr	rs769353072	missense variant	-	NC_000017.11:g.61408162G>A	ExAC,gnomAD
TBX2	Q13207	p.Ala600Thr	rs556896861	missense variant	-	NC_000017.11:g.61408165G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala601Thr	rs771737837	missense variant	-	NC_000017.11:g.61408168G>A	ExAC
TBX2	Q13207	p.Ala603Thr	rs764036287	missense variant	-	NC_000017.11:g.61408174G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala603Ser	rs764036287	missense variant	-	NC_000017.11:g.61408174G>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly604Asp	rs1435787888	missense variant	-	NC_000017.11:g.61408178G>A	gnomAD
TBX2	Q13207	p.Gly604Ser	rs147014278	missense variant	-	NC_000017.11:g.61408177G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly604Cys	rs147014278	missense variant	-	NC_000017.11:g.61408177G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly604Arg	rs147014278	missense variant	-	NC_000017.11:g.61408177G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Leu606Pro	rs1208240880	missense variant	-	NC_000017.11:g.61408184T>C	gnomAD
TBX2	Q13207	p.Leu606Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61408183C>G	NCI-TCGA
TBX2	Q13207	p.Ser607Pro	rs1315085057	missense variant	-	NC_000017.11:g.61408186T>C	TOPMed
TBX2	Q13207	p.Ser607Phe	COSM3520400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61408187C>T	NCI-TCGA Cosmic
TBX2	Q13207	p.Arg608Trp	rs764896880	missense variant	-	NC_000017.11:g.61408189C>T	ExAC,gnomAD
TBX2	Q13207	p.Arg608Gln	rs1473508839	missense variant	-	NC_000017.11:g.61408190G>A	gnomAD
TBX2	Q13207	p.Ser609Arg	rs1298755634	missense variant	-	NC_000017.11:g.61408192A>C	TOPMed
TBX2	Q13207	p.Ser609Arg	rs1057987	missense variant	-	NC_000017.11:g.61408194C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro610Arg	rs780277539	missense variant	-	NC_000017.11:g.61408196C>G	ExAC,gnomAD
TBX2	Q13207	p.Pro610Ser	COSM3520402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61408195C>T	NCI-TCGA Cosmic
TBX2	Q13207	p.Phe611Ser	rs755482630	missense variant	-	NC_000017.11:g.61408199T>C	ExAC,gnomAD
TBX2	Q13207	p.Ser614Arg	rs1163586259	missense variant	-	NC_000017.11:g.61408209T>G	TOPMed
TBX2	Q13207	p.Arg616Trp	rs748195981	missense variant	-	NC_000017.11:g.61408213C>T	ExAC,gnomAD
TBX2	Q13207	p.Arg616Gln	rs191930922	missense variant	-	NC_000017.11:g.61408214G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro617Leu	COSM3520403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61408217C>T	NCI-TCGA Cosmic
TBX2	Q13207	p.Arg618Gln	rs777954444	missense variant	-	NC_000017.11:g.61408220G>A	ExAC,gnomAD
TBX2	Q13207	p.Leu619Val	rs780394333	missense variant	-	NC_000017.11:g.61408222C>G	TOPMed,gnomAD
TBX2	Q13207	p.Arg620His	rs775093972	missense variant	-	NC_000017.11:g.61408226G>A	ExAC,gnomAD
TBX2	Q13207	p.Arg620Cys	rs373091690	missense variant	-	NC_000017.11:g.61408225C>T	ESP,ExAC,gnomAD
TBX2	Q13207	p.Ser622Arg	rs1279945164	missense variant	-	NC_000017.11:g.61408233C>A	gnomAD
TBX2	Q13207	p.Gln625Arg	rs760471565	missense variant	-	NC_000017.11:g.61408241A>G	ExAC,gnomAD
TBX2	Q13207	p.Gln625His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61408242G>T	NCI-TCGA
TBX2	Q13207	p.Ile626Asn	rs768543958	missense variant	-	NC_000017.11:g.61408244T>A	ExAC,gnomAD
TBX2	Q13207	p.Pro627Ala	rs1278938634	missense variant	-	NC_000017.11:g.61408246C>G	gnomAD
TBX2	Q13207	p.Pro627Leu	rs776574836	missense variant	-	NC_000017.11:g.61408247C>T	ExAC,gnomAD
TBX2	Q13207	p.Pro627Arg	rs776574836	missense variant	-	NC_000017.11:g.61408247C>G	ExAC,gnomAD
TBX2	Q13207	p.Val628Asp	rs764623072	missense variant	-	NC_000017.11:g.61408250T>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Thr629Ala	rs1477822012	missense variant	-	NC_000017.11:g.61408252A>G	gnomAD
TBX2	Q13207	p.Pro631Leu	rs147052385	missense variant	-	NC_000017.11:g.61408259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ser633Gly	rs766068207	missense variant	-	NC_000017.11:g.61408264A>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ser633Asn	rs1427588954	missense variant	-	NC_000017.11:g.61408265G>A	gnomAD
TBX2	Q13207	p.Leu636Arg	rs751904464	missense variant	-	NC_000017.11:g.61408274T>G	ExAC,gnomAD
TBX2	Q13207	p.Thr639Ala	rs755423150	missense variant	-	NC_000017.11:g.61408282A>G	ExAC,gnomAD
TBX2	Q13207	p.Gly640Arg	rs753230872	missense variant	-	NC_000017.11:g.61408285G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala642Val	rs756680844	missense variant	-	NC_000017.11:g.61408292C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly645Cys	rs749403783	missense variant	-	NC_000017.11:g.61408300G>T	ExAC,gnomAD
TBX2	Q13207	p.Ala649Thr	rs377687643	missense variant	-	NC_000017.11:g.61408312G>A	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly650Ser	rs1231627362	missense variant	-	NC_000017.11:g.61408315G>A	gnomAD
TBX2	Q13207	p.Asn652Asp	rs1279090119	missense variant	-	NC_000017.11:g.61408321A>G	gnomAD
TBX2	Q13207	p.Ser653Arg	rs779229096	missense variant	-	NC_000017.11:g.61408326C>G	ExAC,gnomAD
TBX2	Q13207	p.Arg654Gln	rs149614309	missense variant	-	NC_000017.11:g.61408328G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg654Trp	rs746759936	missense variant	-	NC_000017.11:g.61408327C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg654Gly	rs746759936	missense variant	-	NC_000017.11:g.61408327C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Glu655Lys	rs769827285	missense variant	-	NC_000017.11:g.61408330G>A	ExAC,gnomAD
TBX2	Q13207	p.Pro656Ser	rs772538088	missense variant	-	NC_000017.11:g.61408333C>T	ExAC,gnomAD
TBX2	Q13207	p.Pro656Leu	rs986503687	missense variant	-	NC_000017.11:g.61408334C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ser657Arg	rs762527982	missense variant	-	NC_000017.11:g.61408338C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ser657Arg	rs762527982	missense variant	-	NC_000017.11:g.61408338C>G	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro658Ala	rs765906139	missense variant	-	NC_000017.11:g.61408339C>G	ExAC,gnomAD
TBX2	Q13207	p.Leu659Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61408342C>G	NCI-TCGA
TBX2	Q13207	p.Pro660Leu	rs924184903	missense variant	-	NC_000017.11:g.61408346C>T	TOPMed
TBX2	Q13207	p.Pro660Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61408345C>T	NCI-TCGA
TBX2	Q13207	p.Glu661Gln	rs759307454	missense variant	-	NC_000017.11:g.61408348G>C	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Glu661Lys	rs759307454	missense variant	-	NC_000017.11:g.61408348G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala663Val	rs767959344	missense variant	-	NC_000017.11:g.61408355C>T	ExAC,gnomAD
TBX2	Q13207	p.Leu664Ile	rs753175622	missense variant	-	NC_000017.11:g.61408357C>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg665His	rs764671010	missense variant	-	NC_000017.11:g.61408361G>A	ExAC,gnomAD
TBX2	Q13207	p.Arg665Cys	rs34493156	missense variant	-	NC_000017.11:g.61408360C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Lys666Glu	rs1438378054	missense variant	-	NC_000017.11:g.61408363A>G	gnomAD
TBX2	Q13207	p.Val667Ile	rs753824335	missense variant	-	NC_000017.11:g.61408366G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala669Val	rs779016245	missense variant	-	NC_000017.11:g.61408373C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ala669Ser	rs367963765	missense variant	-	NC_000017.11:g.61408372G>T	ExAC,gnomAD
TBX2	Q13207	p.Ser671Cys	rs746060657	missense variant	-	NC_000017.11:g.61408379C>G	ExAC,gnomAD
TBX2	Q13207	p.Arg672Cys	rs113424512	missense variant	-	NC_000017.11:g.61408381C>T	ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Arg672His	rs780953070	missense variant	-	NC_000017.11:g.61408382G>A	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Gly673Ser	rs948234669	missense variant	-	NC_000017.11:g.61408384G>A	TOPMed,gnomAD
TBX2	Q13207	p.Ala674Val	rs1441759858	missense variant	-	NC_000017.11:g.61408388C>T	gnomAD
TBX2	Q13207	p.Leu675Pro	rs1179825768	missense variant	-	NC_000017.11:g.61408391T>C	gnomAD
TBX2	Q13207	p.Ser676Leu	rs1458420643	missense variant	-	NC_000017.11:g.61408394C>T	gnomAD
TBX2	Q13207	p.Pro677Ser	rs773230802	missense variant	-	NC_000017.11:g.61408396C>T	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro677Arg	rs61751978	missense variant	-	NC_000017.11:g.61408397C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Pro677Leu	rs61751978	missense variant	-	NC_000017.11:g.61408397C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ser678Thr	rs1324945636	missense variant	-	NC_000017.11:g.61408400G>C	gnomAD
TBX2	Q13207	p.Ser680Trp	rs1256188257	missense variant	-	NC_000017.11:g.61408406C>G	TOPMed,gnomAD
TBX2	Q13207	p.Ser680Leu	rs1256188257	missense variant	-	NC_000017.11:g.61408406C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ala681Val	rs1448528595	missense variant	-	NC_000017.11:g.61408409C>T	gnomAD
TBX2	Q13207	p.Glu683Ter	rs1206505563	stop gained	-	NC_000017.11:g.61408414G>T	TOPMed,gnomAD
TBX2	Q13207	p.Ala684Glu	rs1304331917	missense variant	-	NC_000017.11:g.61408418C>A	TOPMed,gnomAD
TBX2	Q13207	p.Ala684Val	rs1304331917	missense variant	-	NC_000017.11:g.61408418C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ala685Val	rs1334676220	missense variant	-	NC_000017.11:g.61408421C>T	gnomAD
TBX2	Q13207	p.Asn686Ser	rs1244821600	missense variant	-	NC_000017.11:g.61408424A>G	gnomAD
TBX2	Q13207	p.Asn686Lys	rs528883638	missense variant	-	NC_000017.11:g.61408425T>A	1000Genomes,ExAC,gnomAD
TBX2	Q13207	p.Ser690Asn	rs1259099213	missense variant	-	NC_000017.11:g.61408436G>A	gnomAD
TBX2	Q13207	p.Val695Met	rs1194305286	missense variant	-	NC_000017.11:g.61408450G>A	TOPMed,gnomAD
TBX2	Q13207	p.Ser696Asn	rs771904517	missense variant	-	NC_000017.11:g.61408454G>A	ExAC
TBX2	Q13207	p.Gln701Arg	rs1379296399	missense variant	-	NC_000017.11:g.61408469A>G	TOPMed
TBX2	Q13207	p.Arg702Gln	rs899163658	missense variant	-	NC_000017.11:g.61408472G>A	TOPMed,gnomAD
TBX2	Q13207	p.Arg702Gly	rs1014995360	missense variant	-	NC_000017.11:g.61408471C>G	TOPMed,gnomAD
TBX2	Q13207	p.Ala703Thr	rs1419996654	missense variant	-	NC_000017.11:g.61408474G>A	gnomAD
TBX2	Q13207	p.Ser705Ala	rs1427020569	missense variant	-	NC_000017.11:g.61408480T>G	gnomAD
TBX2	Q13207	p.Arg708Gln	rs775935102	missense variant	-	NC_000017.11:g.61408490G>A	ExAC,gnomAD
TBX2	Q13207	p.Arg708Trp	rs1164038671	missense variant	-	NC_000017.11:g.61408489C>T	TOPMed,gnomAD
TBX2	Q13207	p.Ser710Leu	rs1296116503	missense variant	-	NC_000017.11:g.61408496C>T	TOPMed,gnomAD
TBX2	Q13207	p.Lys712Asn	rs761134753	missense variant	-	NC_000017.11:g.61408503G>C	ExAC,TOPMed,gnomAD
TBX2	Q13207	p.Ter713Arg	rs890619577	stop lost	-	NC_000017.11:g.61408504T>A	TOPMed
NOG	Q13253	p.Cys4Tyr	rs747066445	missense variant	-	NC_000017.11:g.56594234G>A	ExAC,gnomAD
NOG	Q13253	p.Pro5Leu	rs1479350403	missense variant	-	NC_000017.11:g.56594237C>T	gnomAD
NOG	Q13253	p.Ser6Asn	rs768756623	missense variant	-	NC_000017.11:g.56594240G>A	ExAC,gnomAD
NOG	Q13253	p.Ser6Thr	rs768756623	missense variant	-	NC_000017.11:g.56594240G>C	ExAC,gnomAD
NOG	Q13253	p.Leu7Val	rs1256399365	missense variant	-	NC_000017.11:g.56594242C>G	gnomAD
NOG	Q13253	p.Leu7Arg	rs377157982	missense variant	-	NC_000017.11:g.56594243T>G	ESP,ExAC,gnomAD
NOG	Q13253	p.Gly8Glu	rs1186245908	missense variant	-	NC_000017.11:g.56594246G>A	gnomAD
NOG	Q13253	p.Val9Ile	rs941916719	missense variant	-	NC_000017.11:g.56594248G>A	TOPMed,gnomAD
NOG	Q13253	p.Val9Leu	rs941916719	missense variant	-	NC_000017.11:g.56594248G>C	TOPMed,gnomAD
NOG	Q13253	p.Val9Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594248G>T	NCI-TCGA
NOG	Q13253	p.Val9Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594249T>C	NCI-TCGA
NOG	Q13253	p.Thr10Ile	rs762322014	missense variant	-	NC_000017.11:g.56594252C>T	ExAC,gnomAD
NOG	Q13253	p.Leu11Phe	rs1214929623	missense variant	-	NC_000017.11:g.56594254C>T	TOPMed
NOG	Q13253	p.Tyr12Cys	rs1461501579	missense variant	-	NC_000017.11:g.56594258A>G	gnomAD
NOG	Q13253	p.Ala13Ser	rs1404614359	missense variant	-	NC_000017.11:g.56594260G>T	gnomAD
NOG	Q13253	p.Leu14Pro	rs1354515769	missense variant	-	NC_000017.11:g.56594264T>C	gnomAD
NOG	Q13253	p.Leu14Val	rs760219464	missense variant	-	NC_000017.11:g.56594263C>G	ExAC,gnomAD
NOG	Q13253	p.Val15Leu	rs1279966877	missense variant	-	NC_000017.11:g.56594266G>T	gnomAD
NOG	Q13253	p.Gly19Arg	rs1256141982	missense variant	-	NC_000017.11:g.56594278G>A	gnomAD
NOG	Q13253	p.Leu20Val	rs778974686	missense variant	-	NC_000017.11:g.56594281C>G	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Arg21Trp	rs1208206036	missense variant	-	NC_000017.11:g.56594284C>T	gnomAD
NOG	Q13253	p.Arg21Gln	rs1256373244	missense variant	-	NC_000017.11:g.56594285G>A	gnomAD
NOG	Q13253	p.Thr23Ile	rs138776675	missense variant	-	NC_000017.11:g.56594291C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Thr23Ile	RCV000598147	missense variant	-	NC_000017.11:g.56594291C>T	ClinVar
NOG	Q13253	p.Pro24Leu	rs747237879	missense variant	-	NC_000017.11:g.56594294C>T	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Pro24Ser	rs200253265	missense variant	-	NC_000017.11:g.56594293C>T	1000Genomes,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Pro24Gln	rs747237879	missense variant	-	NC_000017.11:g.56594294C>A	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly27Ser	rs1173208088	missense variant	-	NC_000017.11:g.56594302G>A	gnomAD
NOG	Q13253	p.His32Tyr	rs770174138	missense variant	-	NC_000017.11:g.56594317C>T	ExAC,gnomAD
NOG	Q13253	p.Arg34His	rs763181672	missense variant	-	NC_000017.11:g.56594324G>A	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Arg34Leu	rs763181672	missense variant	-	NC_000017.11:g.56594324G>T	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Pro35Ala	rs28937580	missense variant	-	NC_000017.11:g.56594326C>G	-
NOG	Q13253	p.Pro35Ala	rs28937580	missense variant	Brachydactyly B2 (BDB2)	NC_000017.11:g.56594326C>G	UniProt,dbSNP
NOG	Q13253	p.Pro35Ala	VAR_036997	missense variant	Brachydactyly B2 (BDB2)	NC_000017.11:g.56594326C>G	UniProt
NOG	Q13253	p.Pro35Ser	rs28937580	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594326C>T	UniProt,dbSNP
NOG	Q13253	p.Pro35Ser	VAR_018324	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594326C>T	UniProt
NOG	Q13253	p.Pro35Ser	rs28937580	missense variant	-	NC_000017.11:g.56594326C>T	-
NOG	Q13253	p.Pro35Arg	rs104894611	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594327C>G	UniProt,dbSNP
NOG	Q13253	p.Pro35Arg	VAR_011361	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594327C>G	UniProt
NOG	Q13253	p.Pro35Arg	rs104894611	missense variant	-	NC_000017.11:g.56594327C>G	-
NOG	Q13253	p.Pro35Ala	RCV000007100	missense variant	Brachydactyly type B2 (BDB2)	NC_000017.11:g.56594326C>G	ClinVar
NOG	Q13253	p.Pro35Ser	RCV000579390	missense variant	Stapes ankylosis with broad thumb and toes	NC_000017.11:g.56594326C>T	ClinVar
NOG	Q13253	p.Pro35Ser	RCV000007093	missense variant	Proximal symphalangism (SYM1A)	NC_000017.11:g.56594326C>T	ClinVar
NOG	Q13253	p.Pro35Arg	RCV000049267	missense variant	Proximal symphalangism (SYM1A)	NC_000017.11:g.56594327C>G	ClinVar
NOG	Q13253	p.Pro35Ser	RCV000007094	missense variant	Brachydactyly type B2 (BDB2)	NC_000017.11:g.56594326C>T	ClinVar
NOG	Q13253	p.Pro35Arg	RCV000007085	missense variant	Tarsal carpal coalition syndrome (TCC)	NC_000017.11:g.56594327C>G	ClinVar
NOG	Q13253	p.Ala36Val	rs771355844	missense variant	-	NC_000017.11:g.56594330C>T	ExAC,gnomAD
NOG	Q13253	p.Ala36Pro	VAR_036998	Missense	Brachydactyly B2 (BDB2) [MIM:611377]	-	UniProt
NOG	Q13253	p.Pro37Ser	rs1231478089	missense variant	-	NC_000017.11:g.56594332C>T	TOPMed,gnomAD
NOG	Q13253	p.Asn40Ser	rs1253087476	missense variant	-	NC_000017.11:g.56594342A>G	TOPMed
NOG	Q13253	p.Asn40Ile	COSM981623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.56594342A>T	NCI-TCGA Cosmic
NOG	Q13253	p.Pro42Leu	rs1018505000	missense variant	-	NC_000017.11:g.56594348C>T	TOPMed
NOG	Q13253	p.Pro42Leu	RCV000480013	missense variant	-	NC_000017.11:g.56594348C>T	ClinVar
NOG	Q13253	p.Leu43Val	rs372535983	missense variant	-	NC_000017.11:g.56594350C>G	ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Leu43Pro	rs763894353	missense variant	-	NC_000017.11:g.56594351T>C	ExAC,gnomAD
NOG	Q13253	p.Asp45Gly	rs373452045	missense variant	-	NC_000017.11:g.56594357A>G	ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Glu48Lys	VAR_036999	Missense	Brachydactyly B2 (BDB2) [MIM:611377]	-	UniProt
NOG	Q13253	p.His49Gln	rs1192216513	missense variant	-	NC_000017.11:g.56594370C>G	gnomAD
NOG	Q13253	p.Ile53Val	rs761426737	missense variant	-	NC_000017.11:g.56594380A>G	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Asp55Gly	rs1193145511	missense variant	-	NC_000017.11:g.56594387A>G	gnomAD
NOG	Q13253	p.Asp55Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594386G>A	NCI-TCGA
NOG	Q13253	p.Pro56Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594389C>T	NCI-TCGA
NOG	Q13253	p.Lys57Arg	rs758063548	missense variant	-	NC_000017.11:g.56594393A>G	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Lys57Gln	rs1160997229	missense variant	-	NC_000017.11:g.56594392A>C	gnomAD
NOG	Q13253	p.Glu58Gly	rs766177414	missense variant	-	NC_000017.11:g.56594396A>G	ExAC,gnomAD
NOG	Q13253	p.Glu58Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594395G>A	NCI-TCGA
NOG	Q13253	p.Asp60Asn	rs117165670	missense variant	-	NC_000017.11:g.56594401G>A	1000Genomes,ExAC,gnomAD
NOG	Q13253	p.Asp60Glu	rs879793137	missense variant	-	NC_000017.11:g.56594403T>A	TOPMed,gnomAD
NOG	Q13253	p.Leu61Gln	rs1031172790	missense variant	-	NC_000017.11:g.56594405T>A	TOPMed
NOG	Q13253	p.Leu65Pro	rs756242702	missense variant	-	NC_000017.11:g.56594417T>C	ExAC
NOG	Q13253	p.Leu70Phe	rs200290354	missense variant	-	NC_000017.11:g.56594431C>T	ExAC,TOPMed
NOG	Q13253	p.Gly72Asp	rs774839053	missense variant	-	NC_000017.11:g.56594438G>A	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly72Val	rs774839053	missense variant	-	NC_000017.11:g.56594438G>T	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly72Ser	rs147499492	missense variant	-	NC_000017.11:g.56594437G>A	ESP,ExAC,gnomAD
NOG	Q13253	p.His73Tyr	rs1180534310	missense variant	-	NC_000017.11:g.56594440C>T	TOPMed
NOG	Q13253	p.His73Gln	rs746297352	missense variant	-	NC_000017.11:g.56594442C>G	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Asp75Glu	rs554180514	missense variant	-	NC_000017.11:g.56594448C>G	1000Genomes,ExAC,gnomAD
NOG	Q13253	p.Pro76Leu	rs776472075	missense variant	-	NC_000017.11:g.56594450C>T	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly77Arg	rs761177860	missense variant	-	NC_000017.11:g.56594452G>C	ExAC,gnomAD
NOG	Q13253	p.Thr81Ile	rs1407568275	missense variant	-	NC_000017.11:g.56594465C>T	gnomAD
NOG	Q13253	p.Pro83Ala	rs772966707	missense variant	-	NC_000017.11:g.56594470C>G	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Pro83Ser	rs772966707	missense variant	-	NC_000017.11:g.56594470C>T	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Pro83His	rs762937185	missense variant	-	NC_000017.11:g.56594471C>A	ExAC,gnomAD
NOG	Q13253	p.Pro84Leu	rs138481449	missense variant	-	NC_000017.11:g.56594474C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Pro84His	rs138481449	missense variant	-	NC_000017.11:g.56594474C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Pro84Arg	rs138481449	missense variant	-	NC_000017.11:g.56594474C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Pro84His	RCV000513782	missense variant	-	NC_000017.11:g.56594474C>A	ClinVar
NOG	Q13253	p.Glu85Val	rs1400308033	missense variant	-	NC_000017.11:g.56594477A>T	gnomAD
NOG	Q13253	p.Glu85ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.56594470C>-	NCI-TCGA
NOG	Q13253	p.Asp86Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594479G>T	NCI-TCGA
NOG	Q13253	p.Arg87Trp	rs991943783	missense variant	-	NC_000017.11:g.56594482C>T	TOPMed
NOG	Q13253	p.Arg87Gln	rs1024719173	missense variant	-	NC_000017.11:g.56594483G>A	TOPMed
NOG	Q13253	p.Arg87Pro	rs1024719173	missense variant	-	NC_000017.11:g.56594483G>C	TOPMed
NOG	Q13253	p.Pro88His	rs752998662	missense variant	-	NC_000017.11:g.56594486C>A	ExAC,gnomAD
NOG	Q13253	p.Pro88His	rs752998662	missense variant	-	NC_000017.11:g.56594486C>A	NCI-TCGA
NOG	Q13253	p.Gly89Asp	rs749381932	missense variant	-	NC_000017.11:g.56594489G>A	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly89Ser	rs777919828	missense variant	-	NC_000017.11:g.56594488G>A	ExAC,gnomAD
NOG	Q13253	p.Gly90Glu	COSM3519873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.56594492G>A	NCI-TCGA Cosmic
NOG	Q13253	p.Gly90Arg	rs1213548681	missense variant	-	NC_000017.11:g.56594491G>A	gnomAD
NOG	Q13253	p.Gly91Asp	rs375026622	missense variant	-	NC_000017.11:g.56594495G>A	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly91Asp	RCV000593322	missense variant	-	NC_000017.11:g.56594495G>A	ClinVar
NOG	Q13253	p.Gly91Ala	rs375026622	missense variant	-	NC_000017.11:g.56594495G>C	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly92Trp	rs1202550921	missense variant	-	NC_000017.11:g.56594497G>T	gnomAD
NOG	Q13253	p.Gly92Glu	RCV000455908	missense variant	-	NC_000017.11:g.56594498G>A	ClinVar
NOG	Q13253	p.Gly92Glu	rs199566527	missense variant	-	NC_000017.11:g.56594498G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly93Val	rs747852410	missense variant	-	NC_000017.11:g.56594501G>T	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly93Ser	rs776106273	missense variant	-	NC_000017.11:g.56594500G>A	ExAC,gnomAD
NOG	Q13253	p.Gly93Ala	rs747852410	missense variant	-	NC_000017.11:g.56594501G>C	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Ala95Thr	rs1419685672	missense variant	-	NC_000017.11:g.56594506G>A	gnomAD
NOG	Q13253	p.Gly96Ala	rs769391519	missense variant	-	NC_000017.11:g.56594510G>C	ExAC,gnomAD
NOG	Q13253	p.Gly96Arg	rs1474106355	missense variant	-	NC_000017.11:g.56594509G>A	gnomAD
NOG	Q13253	p.Gly96Val	rs769391519	missense variant	-	NC_000017.11:g.56594510G>T	ExAC,gnomAD
NOG	Q13253	p.Gly97Asp	rs1424277379	missense variant	-	NC_000017.11:g.56594513G>A	gnomAD
NOG	Q13253	p.Ala98Val	rs772774248	missense variant	-	NC_000017.11:g.56594516C>T	ExAC,gnomAD
NOG	Q13253	p.Glu99Gly	rs1555572827	missense variant	-	NC_000017.11:g.56594519A>G	-
NOG	Q13253	p.Glu99Gly	RCV000521110	missense variant	-	NC_000017.11:g.56594519A>G	ClinVar
NOG	Q13253	p.Glu99Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.56594518G>T	NCI-TCGA
NOG	Q13253	p.Ala102Val	rs774298541	missense variant	-	NC_000017.11:g.56594528C>T	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Ala102Gly	rs774298541	missense variant	-	NC_000017.11:g.56594528C>G	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Glu103Val	rs373305050	missense variant	-	NC_000017.11:g.56594531A>T	ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Glu103Gln	rs759290193	missense variant	-	NC_000017.11:g.56594530G>C	ExAC,gnomAD
NOG	Q13253	p.Gln106Arg	rs576666126	missense variant	-	NC_000017.11:g.56594540A>G	1000Genomes,ExAC,gnomAD
NOG	Q13253	p.Arg109Trp	rs764285839	missense variant	-	NC_000017.11:g.56594548C>T	ExAC,gnomAD
NOG	Q13253	p.Gln110Ter	rs104894614	stop gained	-	NC_000017.11:g.56594551C>T	-
NOG	Q13253	p.Gln110Pro	rs868405669	missense variant	-	NC_000017.11:g.56594552A>C	gnomAD
NOG	Q13253	p.Gln110Ter	RCV000007096	nonsense	Stapes ankylosis with broad thumb and toes	NC_000017.11:g.56594551C>T	ClinVar
NOG	Q13253	p.Arg111Gln	rs1260713999	missense variant	-	NC_000017.11:g.56594555G>A	TOPMed
NOG	Q13253	p.Pro112Leu	rs1312982970	missense variant	-	NC_000017.11:g.56594558C>T	gnomAD
NOG	Q13253	p.Ser113Leu	rs371150691	missense variant	-	NC_000017.11:g.56594561C>T	ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly114Val	rs1484538779	missense variant	-	NC_000017.11:g.56594564G>T	TOPMed,gnomAD
NOG	Q13253	p.Gly114Arg	rs1064796941	missense variant	-	NC_000017.11:g.56594563G>A	-
NOG	Q13253	p.Gly114Glu	rs1484538779	missense variant	-	NC_000017.11:g.56594564G>A	TOPMed,gnomAD
NOG	Q13253	p.Gly114Arg	RCV000486797	missense variant	-	NC_000017.11:g.56594563G>A	ClinVar
NOG	Q13253	p.Ala115Thr	rs779513643	missense variant	-	NC_000017.11:g.56594566G>A	ExAC,gnomAD
NOG	Q13253	p.Ala115Ser	rs779513643	missense variant	-	NC_000017.11:g.56594566G>T	ExAC,gnomAD
NOG	Q13253	p.Ala115ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.56594562G>-	NCI-TCGA
NOG	Q13253	p.Met116Val	rs1242597018	missense variant	-	NC_000017.11:g.56594569A>G	gnomAD
NOG	Q13253	p.Pro117Arg	rs750997261	missense variant	-	NC_000017.11:g.56594573C>G	ExAC,gnomAD
NOG	Q13253	p.Ser118Asn	rs544032242	missense variant	-	NC_000017.11:g.56594576G>A	1000Genomes,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Glu119Asp	rs1229067037	missense variant	-	NC_000017.11:g.56594580G>C	TOPMed
NOG	Q13253	p.Ile120Val	rs780454130	missense variant	-	NC_000017.11:g.56594581A>G	ExAC,gnomAD
NOG	Q13253	p.Ile120Leu	rs780454130	missense variant	-	NC_000017.11:g.56594581A>C	ExAC,gnomAD
NOG	Q13253	p.Lys121Arg	rs1414552161	missense variant	-	NC_000017.11:g.56594585A>G	gnomAD
NOG	Q13253	p.Glu127Gln	rs1328705140	missense variant	-	NC_000017.11:g.56594602G>C	TOPMed,gnomAD
NOG	Q13253	p.Glu127Gly	rs1429313534	missense variant	-	NC_000017.11:g.56594603A>G	gnomAD
NOG	Q13253	p.Glu127Lys	rs1328705140	missense variant	-	NC_000017.11:g.56594602G>A	TOPMed,gnomAD
NOG	Q13253	p.Gly128Ser	rs774210447	missense variant	-	NC_000017.11:g.56594605G>A	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Gly128Val	rs1039686376	missense variant	-	NC_000017.11:g.56594606G>T	TOPMed,gnomAD
NOG	Q13253	p.Gly128Ala	rs1039686376	missense variant	-	NC_000017.11:g.56594606G>C	TOPMed,gnomAD
NOG	Q13253	p.Gly128Asp	rs1039686376	missense variant	-	NC_000017.11:g.56594606G>A	TOPMed,gnomAD
NOG	Q13253	p.Leu129Ter	rs104894613	stop gained	-	NC_000017.11:g.56594609T>A	-
NOG	Q13253	p.Leu129Ter	RCV000007090	nonsense	Proximal symphalangism (SYM1A)	NC_000017.11:g.56594609T>A	ClinVar
NOG	Q13253	p.Ala130Val	rs865912614	missense variant	-	NC_000017.11:g.56594612C>T	TOPMed,gnomAD
NOG	Q13253	p.Gln135Arg	rs375219346	missense variant	-	NC_000017.11:g.56594627A>G	ESP,ExAC,gnomAD
NOG	Q13253	p.Ser138Asn	rs1003152912	missense variant	-	NC_000017.11:g.56594636G>A	TOPMed
NOG	Q13253	p.Lys139Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594640G>T	NCI-TCGA
NOG	Q13253	p.Leu141Pro	rs1241480784	missense variant	-	NC_000017.11:g.56594645T>C	gnomAD
NOG	Q13253	p.Arg142Gln	rs369585713	missense variant	-	NC_000017.11:g.56594648G>A	ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Arg142Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594647C>T	NCI-TCGA
NOG	Q13253	p.Gln146Leu	rs1190751345	missense variant	-	NC_000017.11:g.56594660A>T	TOPMed
NOG	Q13253	p.Met147Val	rs1448723870	missense variant	-	NC_000017.11:g.56594662A>G	TOPMed
NOG	Q13253	p.Trp148Arg	rs892664793	missense variant	-	NC_000017.11:g.56594665T>C	TOPMed,gnomAD
NOG	Q13253	p.Leu149Gln	rs1433788872	missense variant	-	NC_000017.11:g.56594669T>A	gnomAD
NOG	Q13253	p.Trp150Gly	rs200203403	missense variant	-	NC_000017.11:g.56594671T>G	ExAC,gnomAD
NOG	Q13253	p.Ser151Ala	rs750589581	missense variant	-	NC_000017.11:g.56594674T>G	ExAC,gnomAD
NOG	Q13253	p.Ser151Trp	rs758969125	missense variant	-	NC_000017.11:g.56594675C>G	ExAC
NOG	Q13253	p.Phe154Val	rs755324318	missense variant	-	NC_000017.11:g.56594683T>G	ExAC,gnomAD
NOG	Q13253	p.Phe154Tyr	rs1271298752	missense variant	-	NC_000017.11:g.56594684T>A	TOPMed
NOG	Q13253	p.Phe154Ile	rs755324318	missense variant	-	NC_000017.11:g.56594683T>A	ExAC,gnomAD
NOG	Q13253	p.Val157CysPheSerTerUnkUnk	COSM5079545	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.56594688C>-	NCI-TCGA Cosmic
NOG	Q13253	p.Gly165Asp	COSM3421720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.56594717G>A	NCI-TCGA Cosmic
NOG	Q13253	p.Ser166Asn	rs1225688014	missense variant	-	NC_000017.11:g.56594720G>A	TOPMed
NOG	Q13253	p.Ser166ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.56594714_56594726TGGGCAGCCGCTT>-	NCI-TCGA
NOG	Q13253	p.Arg167His	rs1281500199	missense variant	-	NC_000017.11:g.56594723G>A	gnomAD
NOG	Q13253	p.Arg167Gly	rs121908949	missense variant	Brachydactyly B2 (BDB2)	NC_000017.11:g.56594722C>G	UniProt,dbSNP
NOG	Q13253	p.Arg167Gly	VAR_037000	missense variant	Brachydactyly B2 (BDB2)	NC_000017.11:g.56594722C>G	UniProt
NOG	Q13253	p.Arg167Gly	rs121908949	missense variant	-	NC_000017.11:g.56594722C>G	-
NOG	Q13253	p.Arg167Gly	RCV000007092	missense variant	Brachydactyly type B2 (BDB2)	NC_000017.11:g.56594722C>G	ClinVar
NOG	Q13253	p.Val173Met	rs748947432	missense variant	-	NC_000017.11:g.56594740G>A	ExAC,gnomAD
NOG	Q13253	p.Phe179Leu	rs778378498	missense variant	-	NC_000017.11:g.56594758T>C	ExAC,gnomAD
NOG	Q13253	p.Ser180Asn	rs574424465	missense variant	-	NC_000017.11:g.56594762G>A	1000Genomes,ExAC,gnomAD
NOG	Q13253	p.Ser180Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594761A>G	NCI-TCGA
NOG	Q13253	p.Arg182Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594767C>T	NCI-TCGA
NOG	Q13253	p.Cys184Tyr	RCV000007089	missense variant	Proximal symphalangism (SYM1A)	NC_000017.11:g.56594774G>A	ClinVar
NOG	Q13253	p.Cys184Tyr	rs104894612	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594774G>A	UniProt,dbSNP
NOG	Q13253	p.Cys184Tyr	VAR_018325	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594774G>A	UniProt
NOG	Q13253	p.Cys184Tyr	rs104894612	missense variant	-	NC_000017.11:g.56594774G>A	-
NOG	Q13253	p.Val186Leu	rs372604336	missense variant	-	NC_000017.11:g.56594779G>T	ESP,ExAC,TOPMed,gnomAD
NOG	Q13253	p.Pro187Ser	VAR_037001	Missense	Brachydactyly B2 (BDB2) [MIM:611377]	-	UniProt
NOG	Q13253	p.Glu188Lys	COSM1303085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.56594785G>A	NCI-TCGA Cosmic
NOG	Q13253	p.Gly189Cys	rs104894609	missense variant	-	NC_000017.11:g.56594788G>T	-
NOG	Q13253	p.Gly189Cys	rs104894609	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594788G>T	UniProt,dbSNP
NOG	Q13253	p.Gly189Cys	VAR_011362	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594788G>T	UniProt
NOG	Q13253	p.Gly189Cys	RCV000007083	missense variant	Proximal symphalangism (SYM1A)	NC_000017.11:g.56594788G>T	ClinVar
NOG	Q13253	p.Ser195Tyr	rs765623058	missense variant	-	NC_000017.11:g.56594807C>A	ExAC,gnomAD
NOG	Q13253	p.Val198Leu	rs763176857	missense variant	-	NC_000017.11:g.56594815G>T	ExAC,gnomAD
NOG	Q13253	p.Val198Met	rs763176857	missense variant	-	NC_000017.11:g.56594815G>A	ExAC,gnomAD
NOG	Q13253	p.Leu200Pro	RCV000735694	missense variant	Proximal symphalangism (SYM1A)	NC_000017.11:g.56594822T>C	ClinVar
NOG	Q13253	p.Leu200Val	COSM3989170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.56594821C>G	NCI-TCGA Cosmic
NOG	Q13253	p.Thr201Met	rs766861857	missense variant	-	NC_000017.11:g.56594825C>T	ExAC,TOPMed,gnomAD
NOG	Q13253	p.Val202Leu	rs755307202	missense variant	-	NC_000017.11:g.56594827G>C	ExAC,gnomAD
NOG	Q13253	p.Val202Met	rs755307202	missense variant	-	NC_000017.11:g.56594827G>A	ExAC,gnomAD
NOG	Q13253	p.Arg204Gln	rs104894610	missense variant	-	NC_000017.11:g.56594834G>A	-
NOG	Q13253	p.Arg204Gln	RCV000416327	missense variant	Tarsal carpal coalition syndrome (TCC)	NC_000017.11:g.56594834G>A	ClinVar
NOG	Q13253	p.Arg204Leu	RCV000007084	missense variant	Tarsal carpal coalition syndrome (TCC)	NC_000017.11:g.56594834G>T	ClinVar
NOG	Q13253	p.Arg204Leu	rs104894610	missense variant	Tarsal-carpal coalition syndrome (TCC)	NC_000017.11:g.56594834G>T	UniProt,dbSNP
NOG	Q13253	p.Arg204Leu	VAR_018326	missense variant	Tarsal-carpal coalition syndrome (TCC)	NC_000017.11:g.56594834G>T	UniProt
NOG	Q13253	p.Arg204Leu	rs104894610	missense variant	-	NC_000017.11:g.56594834G>T	-
NOG	Q13253	p.Arg204Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.56594833C>T	NCI-TCGA
NOG	Q13253	p.Trp205Cys	rs104894615	missense variant	-	NC_000017.11:g.56594838G>C	-
NOG	Q13253	p.Trp205Cys	rs104894615	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594838G>C	UniProt,dbSNP
NOG	Q13253	p.Trp205Cys	VAR_037605	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594838G>C	UniProt
NOG	Q13253	p.Trp205Ter	RCV000007098	nonsense	Symphalangism-brachydactyly syndrome (SYNS1)	NC_000017.11:g.56594837G>A	ClinVar
NOG	Q13253	p.Trp205Cys	RCV000007099	missense variant	Symphalangism-brachydactyly syndrome (SYNS1)	NC_000017.11:g.56594838G>C	ClinVar
NOG	Q13253	p.Arg206Cys	rs1335379265	missense variant	-	NC_000017.11:g.56594839C>T	gnomAD
NOG	Q13253	p.Gln208His	rs1373393595	missense variant	-	NC_000017.11:g.56594847G>C	TOPMed
NOG	Q13253	p.Gln208Arg	rs1271202864	missense variant	-	NC_000017.11:g.56594846A>G	gnomAD
NOG	Q13253	p.Arg210Ser	rs753114116	missense variant	-	NC_000017.11:g.56594851C>A	ExAC,gnomAD
NOG	Q13253	p.Arg210His	COSM4068016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.56594852G>A	NCI-TCGA Cosmic
NOG	Q13253	p.Gly211Arg	rs756895131	missense variant	-	NC_000017.11:g.56594854G>A	ExAC,gnomAD
NOG	Q13253	p.Gly212Ser	rs1181516625	missense variant	-	NC_000017.11:g.56594857G>A	gnomAD
NOG	Q13253	p.Gly212Val	rs1418951666	missense variant	-	NC_000017.11:g.56594858G>T	gnomAD
NOG	Q13253	p.Gly212Asp	rs1418951666	missense variant	-	NC_000017.11:g.56594858G>A	gnomAD
NOG	Q13253	p.Gly212AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.56594854G>-	NCI-TCGA
NOG	Q13253	p.Gln213His	rs778574790	missense variant	-	NC_000017.11:g.56594862G>T	ExAC,gnomAD
NOG	Q13253	p.Trp217Gly	rs104894603	missense variant	Multiple synostoses syndrome 1 (SYNS1)	NC_000017.11:g.56594872T>G	UniProt,dbSNP
NOG	Q13253	p.Trp217Gly	VAR_011363	missense variant	Multiple synostoses syndrome 1 (SYNS1)	NC_000017.11:g.56594872T>G	UniProt
NOG	Q13253	p.Trp217Gly	rs104894603	missense variant	-	NC_000017.11:g.56594872T>G	-
NOG	Q13253	p.Trp217Gly	RCV000007081	missense variant	Symphalangism-brachydactyly syndrome (SYNS1)	NC_000017.11:g.56594872T>G	ClinVar
NOG	Q13253	p.Trp217Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.56594874G>A	NCI-TCGA
NOG	Q13253	p.Ile220Asn	VAR_011364	Missense	Symphalangism, proximal 1A (SYM1A) [MIM:185800]	-	UniProt
NOG	Q13253	p.Gln221His	rs1417806206	missense variant	-	NC_000017.11:g.56594886G>C	gnomAD
NOG	Q13253	p.Tyr222His	rs121908948	missense variant	-	NC_000017.11:g.56594887T>C	gnomAD
NOG	Q13253	p.Tyr222Cys	rs104894602	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594888A>G	UniProt,dbSNP
NOG	Q13253	p.Tyr222Cys	VAR_011365	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594888A>G	UniProt
NOG	Q13253	p.Tyr222Cys	rs104894602	missense variant	-	NC_000017.11:g.56594888A>G	-
NOG	Q13253	p.Tyr222Asp	RCV000007080	missense variant	Proximal symphalangism (SYM1A)	NC_000017.11:g.56594887T>G	ClinVar
NOG	Q13253	p.Tyr222Cys	RCV000007079	missense variant	Proximal symphalangism (SYM1A)	NC_000017.11:g.56594888A>G	ClinVar
NOG	Q13253	p.Tyr222Cys	RCV000007087	missense variant	Tarsal carpal coalition syndrome (TCC)	NC_000017.11:g.56594888A>G	ClinVar
NOG	Q13253	p.Tyr222Asp	rs121908948	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594887T>G	UniProt,dbSNP
NOG	Q13253	p.Tyr222Asp	VAR_011366	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594887T>G	UniProt
NOG	Q13253	p.Tyr222Asp	rs121908948	missense variant	-	NC_000017.11:g.56594887T>G	gnomAD
NOG	Q13253	p.Pro223Ala	rs1215635061	missense variant	-	NC_000017.11:g.56594890C>G	TOPMed
NOG	Q13253	p.Pro223Leu	rs104894608	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594891C>T	UniProt,dbSNP
NOG	Q13253	p.Pro223Leu	VAR_011367	missense variant	Symphalangism, proximal 1A (SYM1A)	NC_000017.11:g.56594891C>T	UniProt
NOG	Q13253	p.Pro223Leu	rs104894608	missense variant	-	NC_000017.11:g.56594891C>T	-
NOG	Q13253	p.Pro223Leu	RCV000007082	missense variant	Proximal symphalangism (SYM1A)	NC_000017.11:g.56594891C>T	ClinVar
NOG	Q13253	p.Glu227Asp	rs1272537705	missense variant	-	NC_000017.11:g.56594904G>C	TOPMed
NOG	Q13253	p.Glu227Gln	rs1258962286	missense variant	-	NC_000017.11:g.56594902G>C	TOPMed,gnomAD
NOG	Q13253	p.Lys229Arg	rs757867236	missense variant	-	NC_000017.11:g.56594909A>G	ExAC,gnomAD
NOG	Q13253	p.Cys232Trp	RCV000023225	missense variant	Symphalangism-brachydactyly syndrome (SYNS1)	NC_000017.11:g.56594919C>G	ClinVar
NOG	Q13253	p.Cys232Trp	rs387906844	missense variant	Multiple synostoses syndrome 1 (SYNS1)	NC_000017.11:g.56594919C>G	UniProt,dbSNP
NOG	Q13253	p.Cys232Trp	VAR_064541	missense variant	Multiple synostoses syndrome 1 (SYNS1)	NC_000017.11:g.56594919C>G	UniProt
NOG	Q13253	p.Cys232Trp	rs387906844	missense variant	-	NC_000017.11:g.56594919C>G	ExAC,gnomAD
PTPRS	Q13332	p.Ala2Val	rs202019323	missense variant	-	NC_000019.10:g.5286136G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly6Val	rs753384829	missense variant	-	NC_000019.10:g.5286124C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly6Asp	rs753384829	missense variant	-	NC_000019.10:g.5286124C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro7Leu	rs573998098	missense variant	-	NC_000019.10:g.5286121G>A	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Met9Ile	rs1382974490	missense variant	-	NC_000019.10:g.5286114C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Met9Arg	rs1247683310	missense variant	-	NC_000019.10:g.5286115A>C	gnomAD
PTPRS	Q13332	p.Met9Val	rs1457144477	missense variant	-	NC_000019.10:g.5286116T>C	TOPMed
PTPRS	Q13332	p.Val10Leu	rs900143276	missense variant	-	NC_000019.10:g.5286113C>G	TOPMed
PTPRS	Q13332	p.Val12Leu	rs1232964311	missense variant	-	NC_000019.10:g.5286107C>G	TOPMed,gnomAD
PTPRS	Q13332	p.Val13Ile	rs1463514289	missense variant	-	NC_000019.10:g.5286104C>T	TOPMed
PTPRS	Q13332	p.Pro15Leu	rs1347927565	missense variant	-	NC_000019.10:g.5286097G>A	gnomAD
PTPRS	Q13332	p.Met16Leu	rs767184126	missense variant	-	NC_000019.10:g.5286095T>G	ExAC,gnomAD
PTPRS	Q13332	p.Gly17Cys	rs759513560	missense variant	-	NC_000019.10:g.5286092C>A	ExAC,gnomAD
PTPRS	Q13332	p.Leu19Phe	rs1411368187	missense variant	-	NC_000019.10:g.5286086G>A	gnomAD
PTPRS	Q13332	p.Val20Met	rs1373904570	missense variant	-	NC_000019.10:g.5286083C>T	gnomAD
PTPRS	Q13332	p.Val24Ile	rs200430287	missense variant	-	NC_000019.10:g.5286071C>T	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Gly26Asp	rs1157643989	missense variant	-	NC_000019.10:g.5286064C>T	gnomAD
PTPRS	Q13332	p.Cys27Phe	rs61729776	missense variant	-	NC_000019.10:g.5286061C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Cys27Trp	rs991681350	missense variant	-	NC_000019.10:g.5286060A>C	gnomAD
PTPRS	Q13332	p.Cys27Tyr	rs61729776	missense variant	-	NC_000019.10:g.5286061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro32Arg	rs1199573225	missense variant	-	NC_000019.10:g.5274341G>C	TOPMed
PTPRS	Q13332	p.Pro32Ser	rs770312204	missense variant	-	NC_000019.10:g.5274342G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro32Ala	rs770312204	missense variant	-	NC_000019.10:g.5274342G>C	ExAC,gnomAD
PTPRS	Q13332	p.Pro33Leu	rs781002778	missense variant	-	NC_000019.10:g.5274338G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ile36Val	rs1459725275	missense variant	-	NC_000019.10:g.5274330T>C	gnomAD
PTPRS	Q13332	p.Lys40Glu	rs1427468626	missense variant	-	NC_000019.10:g.5274318T>C	gnomAD
PTPRS	Q13332	p.Lys40Arg	rs115231439	missense variant	-	NC_000019.10:g.5274317T>C	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Gln42Arg	rs1181381541	missense variant	-	NC_000019.10:g.5274311T>C	TOPMed
PTPRS	Q13332	p.Ile43Asn	rs758337995	missense variant	-	NC_000019.10:g.5274308A>T	ExAC,gnomAD
PTPRS	Q13332	p.Val45Met	rs761620469	missense variant	-	NC_000019.10:g.5274303C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val45Ala	rs1338995814	missense variant	-	NC_000019.10:g.5274302A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Gly48Cys	rs1064293	missense variant	-	NC_000019.10:g.5274294C>A	gnomAD
PTPRS	Q13332	p.Gly48Arg	rs1064293	missense variant	-	NC_000019.10:g.5274294C>G	gnomAD
PTPRS	Q13332	p.Gly48Ala	rs767731605	missense variant	-	NC_000019.10:g.5274293C>G	ExAC,gnomAD
PTPRS	Q13332	p.Val49Ala	rs774466489	missense variant	-	NC_000019.10:g.5274290A>G	ExAC,gnomAD
PTPRS	Q13332	p.Val53Met	rs368676720	missense variant	-	NC_000019.10:g.5274279C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln55Glu	rs901729379	missense variant	-	NC_000019.10:g.5274273G>C	TOPMed
PTPRS	Q13332	p.Thr57Met	rs1327116960	missense variant	-	NC_000019.10:g.5274266G>A	gnomAD
PTPRS	Q13332	p.Lys61Gln	rs1390340420	missense variant	-	NC_000019.10:g.5274255T>G	gnomAD
PTPRS	Q13332	p.Lys61Arg	rs1161635961	missense variant	-	NC_000019.10:g.5274254T>C	TOPMed,gnomAD
PTPRS	Q13332	p.Arg63Gln	rs569886681	missense variant	-	NC_000019.10:g.5274248C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr65Ile	rs1463639642	missense variant	-	NC_000019.10:g.5274242G>A	gnomAD
PTPRS	Q13332	p.Lys71Arg	rs1252337813	missense variant	-	NC_000019.10:g.5274224T>C	gnomAD
PTPRS	Q13332	p.Thr80Met	rs146675930	missense variant	-	NC_000019.10:g.5273582G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile81Thr	rs1334263396	missense variant	-	NC_000019.10:g.5273579A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Glu82Asp	rs1415639092	missense variant	-	NC_000019.10:g.5273575C>G	gnomAD
PTPRS	Q13332	p.Asp84Val	rs1327491811	missense variant	-	NC_000019.10:g.5273570T>A	TOPMed
PTPRS	Q13332	p.Ser86Asn	rs1382740948	missense variant	-	NC_000019.10:g.5273564C>T	gnomAD
PTPRS	Q13332	p.Ala87Ser	rs139892277	missense variant	-	NC_000019.10:g.5273562C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala87Val	rs750513868	missense variant	-	NC_000019.10:g.5273561G>A	ExAC,gnomAD
PTPRS	Q13332	p.Val90Ala	rs1185447282	missense variant	-	NC_000019.10:g.5273552A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Pro95Leu	rs1475010322	missense variant	-	NC_000019.10:g.5273537G>A	gnomAD
PTPRS	Q13332	p.Pro99Leu	rs760964676	missense variant	-	NC_000019.10:g.5273525G>A	ExAC,gnomAD
PTPRS	Q13332	p.Arg100Trp	rs1397380294	missense variant	-	NC_000019.10:g.5273523G>A	gnomAD
PTPRS	Q13332	p.Val104Leu	rs745579115	missense variant	-	NC_000019.10:g.5273511C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val104Ala	rs773830684	missense variant	-	NC_000019.10:g.5273510A>G	ExAC,gnomAD
PTPRS	Q13332	p.Val104Met	rs745579115	missense variant	-	NC_000019.10:g.5273511C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu106Gln	rs1015763824	missense variant	-	NC_000019.10:g.5273505C>G	gnomAD
PTPRS	Q13332	p.Glu106Asp	rs770457990	missense variant	-	NC_000019.10:g.5273503C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu106Lys	rs1015763824	missense variant	-	NC_000019.10:g.5273505C>T	gnomAD
PTPRS	Q13332	p.Ser112Leu	rs1284384957	missense variant	-	NC_000019.10:g.5273486G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Val113Ala	rs114080870	missense variant	-	NC_000019.10:g.5273483A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val113Asp	rs114080870	missense variant	-	NC_000019.10:g.5273483A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly114Arg	rs1166698761	missense variant	-	NC_000019.10:g.5273481C>T	TOPMed
PTPRS	Q13332	p.Ile116Val	rs1457708210	missense variant	-	NC_000019.10:g.5273475T>C	gnomAD
PTPRS	Q13332	p.Val118Ala	rs1390669494	missense variant	-	NC_000019.10:g.5273468A>G	gnomAD
PTPRS	Q13332	p.His119Arg	rs1460689258	missense variant	-	NC_000019.10:g.5273465T>C	gnomAD
PTPRS	Q13332	p.Arg126Gln	rs758669308	missense variant	-	NC_000019.10:g.5273444C>T	ExAC,gnomAD
PTPRS	Q13332	p.Gln129Ter	rs1246787618	stop gained	-	NC_000019.10:g.5265191G>A	TOPMed
PTPRS	Q13332	p.Pro131Arg	rs1027747420	missense variant	-	NC_000019.10:g.5265184G>C	TOPMed
PTPRS	Q13332	p.Pro131Ser	rs764127261	missense variant	-	NC_000019.10:g.5265185G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ser132Tyr	rs760753054	missense variant	-	NC_000019.10:g.5265181G>T	ExAC,gnomAD
PTPRS	Q13332	p.Ser132Phe	rs760753054	missense variant	-	NC_000019.10:g.5265181G>A	ExAC,gnomAD
PTPRS	Q13332	p.Gly133Asp	rs1353833193	missense variant	-	NC_000019.10:g.5265178C>T	gnomAD
PTPRS	Q13332	p.Asn136Ser	rs139336866	missense variant	-	NC_000019.10:g.5265169T>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn136Thr	rs139336866	missense variant	-	NC_000019.10:g.5265169T>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp138Asn	rs147257283	missense variant	-	NC_000019.10:g.5265164C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met139Ile	rs769694321	missense variant	-	NC_000019.10:g.5265159C>A	ExAC
PTPRS	Q13332	p.Gly140Ser	rs1240874162	missense variant	-	NC_000019.10:g.5265158C>T	TOPMed
PTPRS	Q13332	p.Arg148Trp	rs748255589	missense variant	-	NC_000019.10:g.5265134G>A	ExAC,gnomAD
PTPRS	Q13332	p.Arg148Gln	rs769916725	missense variant	-	NC_000019.10:g.5265133C>T	gnomAD
PTPRS	Q13332	p.Arg150Gln	rs781304015	missense variant	-	NC_000019.10:g.5265127C>T	ExAC,gnomAD
PTPRS	Q13332	p.Thr153Ile	rs1423947612	missense variant	-	NC_000019.10:g.5265118G>A	gnomAD
PTPRS	Q13332	p.Thr153Ser	rs779673227	missense variant	-	NC_000019.10:g.5265119T>A	TOPMed
PTPRS	Q13332	p.Thr153Ser	rs1423947612	missense variant	-	NC_000019.10:g.5265118G>C	gnomAD
PTPRS	Q13332	p.Met154Ile	rs368174544	missense variant	-	NC_000019.10:g.5265114C>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn161Ser	rs1268476603	missense variant	-	NC_000019.10:g.5265094T>C	TOPMed
PTPRS	Q13332	p.Asp163Asn	rs1437325340	missense variant	-	NC_000019.10:g.5265089C>T	gnomAD
PTPRS	Q13332	p.Pro164Thr	rs753385888	missense variant	-	NC_000019.10:g.5265086G>T	ExAC,gnomAD
PTPRS	Q13332	p.Thr167Ile	rs1012858382	missense variant	-	NC_000019.10:g.5265076G>A	gnomAD
PTPRS	Q13332	p.Val175Met	rs1338812878	missense variant	-	NC_000019.10:g.5265053C>T	TOPMed
PTPRS	Q13332	p.Asp176Gly	rs1434406998	missense variant	-	NC_000019.10:g.5265049T>C	gnomAD
PTPRS	Q13332	p.Asp176Asn	rs1363057483	missense variant	-	NC_000019.10:g.5265050C>T	TOPMed
PTPRS	Q13332	p.Ala179Val	rs759377376	missense variant	-	NC_000019.10:g.5265040G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser180Ile	rs774081095	missense variant	-	NC_000019.10:g.5265037C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn181Ser	rs1341984889	missense variant	-	NC_000019.10:g.5265034T>C	TOPMed
PTPRS	Q13332	p.Arg183Cys	rs770043743	missense variant	-	NC_000019.10:g.5265029G>A	ExAC,gnomAD
PTPRS	Q13332	p.Arg183His	rs748364975	missense variant	-	NC_000019.10:g.5265028C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg183Leu	rs748364975	missense variant	-	NC_000019.10:g.5265028C>A	ExAC,gnomAD
PTPRS	Q13332	p.Ile184Met	rs890484474	missense variant	-	NC_000019.10:g.5265024G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Lys185Arg	rs758242063	missense variant	-	NC_000019.10:g.5265022T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Lys185Thr	rs758242063	missense variant	-	NC_000019.10:g.5265022T>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu190Gly	rs1401462780	missense variant	-	NC_000019.10:g.5262972T>C	gnomAD
PTPRS	Q13332	p.Thr191Ile	rs1173071418	missense variant	-	NC_000019.10:g.5262969G>A	gnomAD
PTPRS	Q13332	p.Phe192Leu	rs779306635	missense variant	-	NC_000019.10:g.5262967A>G	ExAC,gnomAD
PTPRS	Q13332	p.Phe192Cys	rs1181107330	missense variant	-	NC_000019.10:g.5262966A>C	gnomAD
PTPRS	Q13332	p.Thr195Ala	rs912584329	missense variant	-	NC_000019.10:g.5260817T>C	TOPMed,gnomAD
PTPRS	Q13332	p.Pro196Leu	rs774744361	missense variant	-	NC_000019.10:g.5260813G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile197Thr	rs1405759365	missense variant	-	NC_000019.10:g.5260810A>G	TOPMed
PTPRS	Q13332	p.Arg198Leu	rs747842113	missense variant	-	NC_000019.10:g.5260807C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg198Ter	rs530233682	stop gained	-	NC_000019.10:g.5260808G>A	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Arg198Pro	rs747842113	missense variant	-	NC_000019.10:g.5260807C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg198Gln	rs747842113	missense variant	-	NC_000019.10:g.5260807C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala200Gly	rs1318524595	missense variant	-	NC_000019.10:g.5258124G>C	gnomAD
PTPRS	Q13332	p.Ala200Ser	rs1490026931	missense variant	-	NC_000019.10:g.5258125C>A	TOPMed
PTPRS	Q13332	p.Ser205Asn	rs751838422	missense variant	-	NC_000019.10:g.5258109C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr209Ile	rs780229133	missense variant	-	NC_000019.10:g.5258097G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr209Ser	rs780229133	missense variant	-	NC_000019.10:g.5258097G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp210Asn	rs1254236268	missense variant	-	NC_000019.10:g.5258095C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ser221Arg	rs1226298171	missense variant	-	NC_000019.10:g.5258062T>G	gnomAD
PTPRS	Q13332	p.Val224Ala	rs1302269430	missense variant	-	NC_000019.10:g.5258052A>G	gnomAD
PTPRS	Q13332	p.Val224Met	rs759053243	missense variant	-	NC_000019.10:g.5258053C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg225His	rs770748688	missense variant	-	NC_000019.10:g.5258049C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg225Cys	rs773920614	missense variant	-	NC_000019.10:g.5258050G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn231Ser	rs1222540404	missense variant	-	NC_000019.10:g.5258031T>C	TOPMed
PTPRS	Q13332	p.Val234Met	rs1435990354	missense variant	-	NC_000019.10:g.5258023C>T	TOPMed
PTPRS	Q13332	p.Arg241His	rs867992252	missense variant	-	NC_000019.10:g.5246042C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg242His	rs1448131962	missense variant	-	NC_000019.10:g.5246039C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Val243Met	rs781664688	missense variant	-	NC_000019.10:g.5246037C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala244Val	rs769218434	missense variant	-	NC_000019.10:g.5246033G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg246Pro	rs1207603443	missense variant	-	NC_000019.10:g.5246027C>G	TOPMed,gnomAD
PTPRS	Q13332	p.Arg246His	rs1207603443	missense variant	-	NC_000019.10:g.5246027C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ser248Phe	rs1358091402	missense variant	-	NC_000019.10:g.5246021G>A	gnomAD
PTPRS	Q13332	p.Pro251Ser	rs1248092226	missense variant	-	NC_000019.10:g.5246013G>A	gnomAD
PTPRS	Q13332	p.Met252Val	rs150419970	missense variant	-	NC_000019.10:g.5246010T>C	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Glu255Lys	rs558548676	missense variant	-	NC_000019.10:g.5246001C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile256Leu	rs1302033266	missense variant	-	NC_000019.10:g.5245998T>G	TOPMed
PTPRS	Q13332	p.Met257Leu	rs778517480	missense variant	-	NC_000019.10:g.5245995T>G	ExAC,gnomAD
PTPRS	Q13332	p.Pro258Ala	rs756841132	missense variant	-	NC_000019.10:g.5245992G>C	ExAC,TOPMed
PTPRS	Q13332	p.Gly260Asp	rs753765123	missense variant	-	NC_000019.10:g.5245985C>T	ExAC,gnomAD
PTPRS	Q13332	p.Asn261Asp	rs1404903701	missense variant	-	NC_000019.10:g.5245983T>C	gnomAD
PTPRS	Q13332	p.Thr265Ile	rs1390057330	missense variant	-	NC_000019.10:g.5245970G>A	gnomAD
PTPRS	Q13332	p.Val269Met	rs528031356	missense variant	-	NC_000019.10:g.5245959C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser271Leu	rs1490066505	missense variant	-	NC_000019.10:g.5245952G>A	gnomAD
PTPRS	Q13332	p.Glu283Lys	rs747508744	missense variant	-	NC_000019.10:g.5245917C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp284Gly	rs1490884536	missense variant	-	NC_000019.10:g.5245913T>C	TOPMed
PTPRS	Q13332	p.Pro287Ala	rs1272793773	missense variant	-	NC_000019.10:g.5245905G>C	gnomAD
PTPRS	Q13332	p.Asp289Asn	rs745467530	missense variant	-	NC_000019.10:g.5245899C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp289Gly	rs1399708087	missense variant	-	NC_000019.10:g.5245898T>C	gnomAD
PTPRS	Q13332	p.Val293Met	rs376695892	missense variant	-	NC_000019.10:g.5245887C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val293Leu	rs376695892	missense variant	-	NC_000019.10:g.5245887C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly294Asp	rs916402733	missense variant	-	NC_000019.10:g.5245883C>T	TOPMed
PTPRS	Q13332	p.Arg295Leu	rs1045893958	missense variant	-	NC_000019.10:g.5245880C>A	gnomAD
PTPRS	Q13332	p.Arg295Trp	rs1423516878	missense variant	-	NC_000019.10:g.5245881G>A	gnomAD
PTPRS	Q13332	p.Arg295Gln	rs1045893958	missense variant	-	NC_000019.10:g.5245880C>T	gnomAD
PTPRS	Q13332	p.Val297Met	rs948978539	missense variant	-	NC_000019.10:g.5245875C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Thr301Lys	rs1296092783	missense variant	-	NC_000019.10:g.5245862G>T	TOPMed
PTPRS	Q13332	p.Asp305Asn	rs796731007	missense variant	-	NC_000019.10:g.5245851C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ala307Ser	rs751418551	missense variant	-	NC_000019.10:g.5245845C>A	ExAC,gnomAD
PTPRS	Q13332	p.Val312Met	rs532977374	missense variant	-	NC_000019.10:g.5245830C>T	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Val319Ile	rs746218785	missense variant	-	NC_000019.10:g.5245809C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile320Val	rs774918692	missense variant	-	NC_000019.10:g.5245806T>C	ExAC,gnomAD
PTPRS	Q13332	p.Ala322Thr	rs1429624175	missense variant	-	NC_000019.10:g.5245800C>T	gnomAD
PTPRS	Q13332	p.Val323Phe	rs140450310	missense variant	-	NC_000019.10:g.5245797C>A	ESP,gnomAD
PTPRS	Q13332	p.Gln325Arg	rs1406625017	missense variant	-	NC_000019.10:g.5245790T>C	gnomAD
PTPRS	Q13332	p.Ile326Val	rs1250947259	missense variant	-	NC_000019.10:g.5245788T>C	TOPMed
PTPRS	Q13332	p.Thr327Met	rs368461283	missense variant	-	NC_000019.10:g.5245784G>A	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Thr327Ala	rs796391927	missense variant	-	NC_000019.10:g.5245785T>C	TOPMed
PTPRS	Q13332	p.Ser330Cys	rs199586806	missense variant	-	NC_000019.10:g.5244482G>C	1000Genomes,TOPMed,gnomAD
PTPRS	Q13332	p.Leu331Val	rs754839223	missense variant	-	NC_000019.10:g.5244480G>C	ExAC,gnomAD
PTPRS	Q13332	p.Leu331Phe	rs754839223	missense variant	-	NC_000019.10:g.5244480G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ala334Val	rs1218428122	missense variant	-	NC_000019.10:g.5244470G>A	gnomAD
PTPRS	Q13332	p.Gly336Arg	rs560188490	missense variant	-	NC_000019.10:g.5244465C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr337Ile	rs1030053885	missense variant	-	NC_000019.10:g.5244461G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Thr337Asn	rs1030053885	missense variant	-	NC_000019.10:g.5244461G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Pro338Leu	rs756420564	missense variant	-	NC_000019.10:g.5244458G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met339Val	rs752701890	missense variant	-	NC_000019.10:g.5244456T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr341Ser	rs767677619	missense variant	-	NC_000019.10:g.5244449G>C	ExAC,gnomAD
PTPRS	Q13332	p.Asn343Ser	rs760082587	missense variant	-	NC_000019.10:g.5244443T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile348Phe	rs752122945	missense variant	-	NC_000019.10:g.5244429T>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser354Ala	rs997693067	missense variant	-	NC_000019.10:g.5244411A>C	TOPMed
PTPRS	Q13332	p.Asn356Thr	rs1487593505	missense variant	-	NC_000019.10:g.5244404T>G	gnomAD
PTPRS	Q13332	p.Pro357Leu	rs769307626	missense variant	-	NC_000019.10:g.5244401G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro357Ser	rs773681008	missense variant	-	NC_000019.10:g.5244402G>A	ExAC,gnomAD
PTPRS	Q13332	p.Val360Leu	rs1377937567	missense variant	-	NC_000019.10:g.5244393C>G	TOPMed
PTPRS	Q13332	p.Val364Ile	rs377318412	missense variant	-	NC_000019.10:g.5244381C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile365Met	rs149022837	missense variant	-	NC_000019.10:g.5244376G>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu366Lys	rs1383575470	missense variant	-	NC_000019.10:g.5244375C>T	gnomAD
PTPRS	Q13332	p.Lys368Thr	rs1343205425	missense variant	-	NC_000019.10:g.5244368T>G	gnomAD
PTPRS	Q13332	p.Ser369Cys	rs1332113586	missense variant	-	NC_000019.10:g.5244365G>C	TOPMed
PTPRS	Q13332	p.GlnAspGlyProTyrGlnIleLysGluAspIleThrThrThr372GlnAspGlyProTyrGlnIleLysGluAspIleThrThrArgArgAlaValSerAspTerArgGlyHisHisHisHisUnk	rs752835971	stop gained	-	NC_000019.10:g.5244355_5244356insGGTGGTGATGTCCTCTTTAATCTGATACGGCCCGTCT	ExAC
PTPRS	Q13332	p.Asp373Glu	rs373004499	missense variant	-	NC_000019.10:g.5244352G>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Tyr376Cys	rs778821298	missense variant	-	NC_000019.10:g.5244344T>C	ExAC,gnomAD
PTPRS	Q13332	p.Gln377Glu	rs756263696	missense variant	-	NC_000019.10:g.5244342G>C	ExAC,gnomAD
PTPRS	Q13332	p.Glu380Asp	rs894022145	missense variant	-	NC_000019.10:g.5244331C>G	TOPMed
PTPRS	Q13332	p.Thr385Ile	rs115982731	missense variant	-	NC_000019.10:g.5244317G>A	1000Genomes,ExAC
PTPRS	Q13332	p.Thr385Ser	rs752997060	missense variant	-	NC_000019.10:g.5244318T>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro394Leu	rs751753667	missense variant	-	NC_000019.10:g.5244290G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ser396Leu	rs1054047470	missense variant	-	NC_000019.10:g.5244284G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ser403Leu	rs750721878	missense variant	-	NC_000019.10:g.5244263G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ser407Thr	rs1236330494	missense variant	-	NC_000019.10:g.5244252A>T	TOPMed
PTPRS	Q13332	p.Gln410Leu	rs760175569	missense variant	-	NC_000019.10:g.5244242T>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro412Ser	rs1346850495	missense variant	-	NC_000019.10:g.5244237G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Glu415Gln	rs375877065	missense variant	-	NC_000019.10:g.5244228C>G	ESP,TOPMed
PTPRS	Q13332	p.Thr419Ala	rs1468015377	missense variant	-	NC_000019.10:g.5244216T>C	gnomAD
PTPRS	Q13332	p.Arg420Leu	rs199851847	missense variant	-	NC_000019.10:g.5244212C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg420Cys	rs1046456607	missense variant	-	NC_000019.10:g.5244213G>A	TOPMed
PTPRS	Q13332	p.Arg420His	rs199851847	missense variant	-	NC_000019.10:g.5244212C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly422Ser	rs781558493	missense variant	-	NC_000019.10:g.5244207C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ala425Ser	rs1181117492	missense variant	-	NC_000019.10:g.5244198C>A	gnomAD
PTPRS	Q13332	p.Pro426Arg	rs780320073	missense variant	-	NC_000019.10:g.5244194G>C	ExAC,gnomAD
PTPRS	Q13332	p.Ala427Val	rs1461138038	missense variant	-	NC_000019.10:g.5244191G>A	gnomAD
PTPRS	Q13332	p.Ala427Thr	rs750960572	missense variant	-	NC_000019.10:g.5244192C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ala429Thr	rs754224013	missense variant	-	NC_000019.10:g.5244186C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala429Val	rs919253826	missense variant	-	NC_000019.10:g.5244185G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Arg431Trp	rs1237664443	missense variant	-	NC_000019.10:g.5244180G>A	gnomAD
PTPRS	Q13332	p.Arg431Leu	rs760369713	missense variant	-	NC_000019.10:g.5244179C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg431Gln	rs760369713	missense variant	-	NC_000019.10:g.5244179C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val433Met	rs774952239	missense variant	-	NC_000019.10:g.5244174C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln434Arg	rs1450264131	missense variant	-	NC_000019.10:g.5244170T>C	gnomAD
PTPRS	Q13332	p.Ala435Thr	rs1405091584	missense variant	-	NC_000019.10:g.5244168C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ala435Ser	rs1405091584	missense variant	-	NC_000019.10:g.5244168C>A	TOPMed,gnomAD
PTPRS	Q13332	p.Arg436Trp	rs767048657	missense variant	-	NC_000019.10:g.5244165G>A	ExAC,gnomAD
PTPRS	Q13332	p.Arg436Gln	rs759347088	missense variant	-	NC_000019.10:g.5244164C>T	ExAC,gnomAD
PTPRS	Q13332	p.Met437Thr	rs942040732	missense variant	-	NC_000019.10:g.5244161A>G	TOPMed
PTPRS	Q13332	p.Met437Val	rs774362368	missense variant	-	NC_000019.10:g.5244162T>C	ExAC,gnomAD
PTPRS	Q13332	p.Leu438Pro	rs1234346320	missense variant	-	NC_000019.10:g.5244158A>G	gnomAD
PTPRS	Q13332	p.Ala440Val	rs373884789	missense variant	-	NC_000019.10:g.5244152G>A	ESP,TOPMed,gnomAD
PTPRS	Q13332	p.Met443Lys	rs1444497360	missense variant	-	NC_000019.10:g.5244143A>T	gnomAD
PTPRS	Q13332	p.Ile444Val	rs773187155	missense variant	-	NC_000019.10:g.5244141T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile444Ser	rs1476376062	missense variant	-	NC_000019.10:g.5244140A>C	TOPMed
PTPRS	Q13332	p.Val445Met	rs1205925337	missense variant	-	NC_000019.10:g.5244138C>T	gnomAD
PTPRS	Q13332	p.Val445Leu	rs1205925337	missense variant	-	NC_000019.10:g.5244138C>A	gnomAD
PTPRS	Q13332	p.Glu449Lys	rs747264114	missense variant	-	NC_000019.10:g.5244126C>T	ExAC,gnomAD
PTPRS	Q13332	p.Asn454His	rs1381888500	missense variant	-	NC_000019.10:g.5244111T>G	gnomAD
PTPRS	Q13332	p.Gly455Ser	rs779471197	missense variant	-	NC_000019.10:g.5244108C>T	ExAC,gnomAD
PTPRS	Q13332	p.Leu456Val	rs1332041184	missense variant	-	NC_000019.10:g.5244105G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Arg458Cys	rs141022401	missense variant	-	NC_000019.10:g.5244099G>A	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Tyr460His	rs1387246320	missense variant	-	NC_000019.10:g.5244093A>G	gnomAD
PTPRS	Q13332	p.Arg461Ser	rs1424618363	missense variant	-	NC_000019.10:g.5244090G>T	gnomAD
PTPRS	Q13332	p.Arg461His	rs1174113999	missense variant	-	NC_000019.10:g.5244089C>T	gnomAD
PTPRS	Q13332	p.Val462Ile	rs73545312	missense variant	-	NC_000019.10:g.5244087C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Tyr463Cys	rs936571902	missense variant	-	NC_000019.10:g.5244083T>C	gnomAD
PTPRS	Q13332	p.Tyr463Phe	rs936571902	missense variant	-	NC_000019.10:g.5244083T>A	gnomAD
PTPRS	Q13332	p.Glu467Lys	rs1287571878	missense variant	-	NC_000019.10:g.5244072C>T	gnomAD
PTPRS	Q13332	p.Pro468Ala	rs143850087	missense variant	-	NC_000019.10:g.5244069G>C	ESP,TOPMed
PTPRS	Q13332	p.His470Tyr	rs766316020	missense variant	-	NC_000019.10:g.5244063G>A	ExAC,gnomAD
PTPRS	Q13332	p.His470Arg	rs1292383126	missense variant	-	NC_000019.10:g.5244062T>C	gnomAD
PTPRS	Q13332	p.Pro471His	rs945169302	missense variant	-	NC_000019.10:g.5244059G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Pro471Ser	rs773100971	missense variant	-	NC_000019.10:g.5244060G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro471Arg	rs945169302	missense variant	-	NC_000019.10:g.5244059G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Val472Gly	rs775859391	missense variant	-	NC_000019.10:g.5244056A>C	ExAC,gnomAD
PTPRS	Q13332	p.Val472Met	rs747170106	missense variant	-	NC_000019.10:g.5244057C>T	ExAC,gnomAD
PTPRS	Q13332	p.Asn474Lys	rs1256358502	missense variant	-	NC_000019.10:g.5244049G>C	TOPMed
PTPRS	Q13332	p.Asn474Thr	rs892819223	missense variant	-	NC_000019.10:g.5244050T>G	TOPMed,gnomAD
PTPRS	Q13332	p.Gln476Lys	rs1366794893	missense variant	-	NC_000019.10:g.5244045G>T	gnomAD
PTPRS	Q13332	p.Gln476His	rs1032570673	missense variant	-	NC_000019.10:g.5244043C>G	TOPMed
PTPRS	Q13332	p.Lys477Thr	rs1191866085	missense variant	-	NC_000019.10:g.5244041T>G	TOPMed
PTPRS	Q13332	p.Val480Met	rs372290737	missense variant	-	NC_000019.10:g.5244033C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val480Leu	rs372290737	missense variant	-	NC_000019.10:g.5244033C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp482Asn	rs771439798	missense variant	-	NC_000019.10:g.5244027C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp482Ala	rs1264843131	missense variant	-	NC_000019.10:g.5244026T>G	gnomAD
PTPRS	Q13332	p.Asp482Glu	rs749829582	missense variant	-	NC_000019.10:g.5244025G>C	ExAC,gnomAD
PTPRS	Q13332	p.Asp482Tyr	rs771439798	missense variant	-	NC_000019.10:g.5244027C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser483Thr	rs1490040794	missense variant	-	NC_000019.10:g.5244023C>G	gnomAD
PTPRS	Q13332	p.Val488Met	rs752283871	missense variant	-	NC_000019.10:g.5244009C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ser490Arg	rs1281596869	missense variant	-	NC_000019.10:g.5244001G>C	gnomAD
PTPRS	Q13332	p.Leu491Val	rs1223052760	missense variant	-	NC_000019.10:g.5244000G>C	gnomAD
PTPRS	Q13332	p.Asp494Glu	rs754630715	missense variant	-	NC_000019.10:g.5243989G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp494Glu	rs754630715	missense variant	-	NC_000019.10:g.5243989G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu495Lys	rs144686472	missense variant	-	NC_000019.10:g.5243988C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr496Ile	rs1330017972	missense variant	-	NC_000019.10:g.5243984G>A	gnomAD
PTPRS	Q13332	p.Val499Met	rs1425401879	missense variant	-	NC_000019.10:g.5243976C>T	gnomAD
PTPRS	Q13332	p.Arg500Trp	rs1173811578	missense variant	-	NC_000019.10:g.5243973G>A	gnomAD
PTPRS	Q13332	p.Arg500Gln	rs762898326	missense variant	-	NC_000019.10:g.5243972C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val501Met	rs750397382	missense variant	-	NC_000019.10:g.5243970C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ala503Pro	rs1488811231	missense variant	-	NC_000019.10:g.5243964C>G	TOPMed
PTPRS	Q13332	p.Val507Ile	rs761695523	missense variant	-	NC_000019.10:g.5243952C>T	ExAC,gnomAD
PTPRS	Q13332	p.Gly508Ser	rs1260947679	missense variant	-	NC_000019.10:g.5243949C>T	gnomAD
PTPRS	Q13332	p.Asp509Asn	rs1324477953	missense variant	-	NC_000019.10:g.5243946C>T	gnomAD
PTPRS	Q13332	p.Gly510Arg	rs774450400	missense variant	-	NC_000019.10:g.5243943C>T	ExAC,gnomAD
PTPRS	Q13332	p.Asp514His	rs770940806	missense variant	-	NC_000019.10:g.5243931C>G	ExAC,gnomAD
PTPRS	Q13332	p.Asp514Asn	rs770940806	missense variant	-	NC_000019.10:g.5243931C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ile516Val	rs1404373711	missense variant	-	NC_000019.10:g.5243925T>C	gnomAD
PTPRS	Q13332	p.Val518Phe	rs749740606	missense variant	-	NC_000019.10:g.5243919C>A	ExAC,gnomAD
PTPRS	Q13332	p.Val518Leu	rs749740606	missense variant	-	NC_000019.10:g.5243919C>G	ExAC,gnomAD
PTPRS	Q13332	p.Thr520Met	rs778260386	missense variant	-	NC_000019.10:g.5243912G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro525Ser	rs752608557	missense variant	-	NC_000019.10:g.5240330G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro528Ala	rs1424819010	missense variant	-	NC_000019.10:g.5240321G>C	gnomAD
PTPRS	Q13332	p.Met529Thr	rs1490005099	missense variant	-	NC_000019.10:g.5240317A>G	gnomAD
PTPRS	Q13332	p.Met529Leu	rs1196402998	missense variant	-	NC_000019.10:g.5240318T>A	gnomAD
PTPRS	Q13332	p.Met529Val	rs1196402998	missense variant	-	NC_000019.10:g.5240318T>C	gnomAD
PTPRS	Q13332	p.Arg532Gln	rs773233463	missense variant	-	NC_000019.10:g.5240308C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg532Trp	rs1456886552	missense variant	-	NC_000019.10:g.5240309G>A	TOPMed
PTPRS	Q13332	p.Ala533Ser	rs1249806655	missense variant	-	NC_000019.10:g.5240306C>A	gnomAD
PTPRS	Q13332	p.Glu534Lys	rs777007079	missense variant	-	NC_000019.10:g.5240303C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser537Leu	rs542381323	missense variant	-	NC_000019.10:g.5240293G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser537Ala	rs769272223	missense variant	-	NC_000019.10:g.5240294A>C	ExAC,gnomAD
PTPRS	Q13332	p.Thr539Ile	rs771818768	missense variant	-	NC_000019.10:g.5240287G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr539Ser	rs771818768	missense variant	-	NC_000019.10:g.5240287G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile541Met	rs778519343	missense variant	-	NC_000019.10:g.5240280G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr542Met	rs368361739	missense variant	-	NC_000019.10:g.5240278G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser546Gly	rs1479695774	missense variant	-	NC_000019.10:g.5240267T>C	gnomAD
PTPRS	Q13332	p.Ser546Asn	rs1490656205	missense variant	-	NC_000019.10:g.5240266C>T	TOPMed
PTPRS	Q13332	p.Ser546Ile	rs1490656205	missense variant	-	NC_000019.10:g.5240266C>A	TOPMed
PTPRS	Q13332	p.Pro547Leu	rs1164400838	missense variant	-	NC_000019.10:g.5240263G>A	gnomAD
PTPRS	Q13332	p.Pro548Leu	rs145504993	missense variant	-	NC_000019.10:g.5240260G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro548Arg	rs145504993	missense variant	-	NC_000019.10:g.5240260G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg549Gln	rs750655279	missense variant	-	NC_000019.10:g.5240257C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg549Trp	rs758563821	missense variant	-	NC_000019.10:g.5240258G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser552Asn	rs866434612	missense variant	-	NC_000019.10:g.5240248C>T	gnomAD
PTPRS	Q13332	p.Ile554Leu	rs1321214567	missense variant	-	NC_000019.10:g.5240243T>G	gnomAD
PTPRS	Q13332	p.Glu557Lys	rs915259022	missense variant	-	NC_000019.10:g.5240234C>T	TOPMed
PTPRS	Q13332	p.Glu557Asp	rs1364775813	missense variant	-	NC_000019.10:g.5240232C>G	TOPMed
PTPRS	Q13332	p.Leu558Ile	rs764486191	missense variant	-	NC_000019.10:g.5240231G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg561Trp	rs202189767	missense variant	-	NC_000019.10:g.5240222G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg561Gln	rs575692671	missense variant	-	NC_000019.10:g.5240221C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu562Lys	rs1400561375	missense variant	-	NC_000019.10:g.5240219C>T	gnomAD
PTPRS	Q13332	p.Glu562Asp	rs377077717	missense variant	-	NC_000019.10:g.5240217T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp564Asn	rs1405851239	missense variant	-	NC_000019.10:g.5240213C>T	TOPMed,gnomAD
PTPRS	Q13332	p.His565Arg	rs774153777	missense variant	-	NC_000019.10:g.5240209T>C	ExAC,gnomAD
PTPRS	Q13332	p.Gly566Ser	rs1309679923	missense variant	-	NC_000019.10:g.5240207C>T	gnomAD
PTPRS	Q13332	p.Arg567Trp	rs141697567	missense variant	-	NC_000019.10:g.5240204G>A	ESP,TOPMed,gnomAD
PTPRS	Q13332	p.Arg567Gln	rs770776322	missense variant	-	NC_000019.10:g.5240203C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val569Ala	rs1165263208	missense variant	-	NC_000019.10:g.5239062A>G	gnomAD
PTPRS	Q13332	p.Thr572Pro	rs769356218	missense variant	-	NC_000019.10:g.5239054T>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr572Ala	rs769356218	missense variant	-	NC_000019.10:g.5239054T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp574Tyr	rs768636218	missense variant	-	NC_000019.10:g.5239048C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp574Asn	rs768636218	missense variant	-	NC_000019.10:g.5239048C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro575Ser	rs376800020	missense variant	-	NC_000019.10:g.5239045G>A	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Pro575Leu	rs185326821	missense variant	-	NC_000019.10:g.5239044G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro575Arg	rs185326821	missense variant	-	NC_000019.10:g.5239044G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr576Met	rs200076643	missense variant	-	NC_000019.10:g.5239041G>A	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Thr576Arg	rs200076643	missense variant	-	NC_000019.10:g.5239041G>C	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Thr577Ile	rs768127307	missense variant	-	NC_000019.10:g.5239038G>A	ExAC,gnomAD
PTPRS	Q13332	p.Tyr579Cys	rs751945387	missense variant	-	NC_000019.10:g.5239032T>C	ExAC,gnomAD
PTPRS	Q13332	p.Val580Ala	rs1281988358	missense variant	-	NC_000019.10:g.5239029A>G	gnomAD
PTPRS	Q13332	p.Val580Met	rs374725933	missense variant	-	NC_000019.10:g.5239030C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val580Glu	rs1281988358	missense variant	-	NC_000019.10:g.5239029A>T	gnomAD
PTPRS	Q13332	p.Val580Leu	rs374725933	missense variant	-	NC_000019.10:g.5239030C>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro586Ser	rs1435812079	missense variant	-	NC_000019.10:g.5239012G>A	gnomAD
PTPRS	Q13332	p.Asn587His	rs772920152	missense variant	-	NC_000019.10:g.5239009T>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr588Met	rs761297706	missense variant	-	NC_000019.10:g.5239005G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr588Lys	rs761297706	missense variant	-	NC_000019.10:g.5239005G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala591Thr	rs138765579	missense variant	-	NC_000019.10:g.5238997C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala591Asp	rs746980366	missense variant	-	NC_000019.10:g.5238996G>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg593Cys	rs775100072	missense variant	-	NC_000019.10:g.5238991G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg593His	rs771916005	missense variant	-	NC_000019.10:g.5238990C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala595Thr	rs368576915	missense variant	-	NC_000019.10:g.5238985C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg597Cys	rs778054699	missense variant	-	NC_000019.10:g.5238979G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg597His	rs1294241597	missense variant	-	NC_000019.10:g.5238978C>T	TOPMed
PTPRS	Q13332	p.Ser598Leu	rs756351666	missense variant	-	NC_000019.10:g.5238975G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro599Leu	rs554924044	missense variant	-	NC_000019.10:g.5238972G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln600Arg	rs1281887798	missense variant	-	NC_000019.10:g.5238969T>C	gnomAD
PTPRS	Q13332	p.Gly601Asp	rs1219183837	missense variant	-	NC_000019.10:g.5238966C>T	gnomAD
PTPRS	Q13332	p.Gly603Ser	rs1276695571	missense variant	-	NC_000019.10:g.5238961C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ala604Thr	rs144851217	missense variant	-	NC_000019.10:g.5238958C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr606Asn	rs750809679	missense variant	-	NC_000019.10:g.5238951G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro607His	rs140733933	missense variant	-	NC_000019.10:g.5238948G>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro607Leu	rs140733933	missense variant	-	NC_000019.10:g.5238948G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val608Met	rs760549393	missense variant	-	NC_000019.10:g.5238946C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val608Gly	rs775503097	missense variant	-	NC_000019.10:g.5238945A>C	ExAC,gnomAD
PTPRS	Q13332	p.Arg610Trp	rs1237159914	missense variant	-	NC_000019.10:g.5238940G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Arg610Gly	rs1237159914	missense variant	-	NC_000019.10:g.5238940G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Arg610Gln	rs1178903212	missense variant	-	NC_000019.10:g.5238939C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gln611Glu	rs1261679177	missense variant	-	NC_000019.10:g.5238937G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Gln611Arg	rs1209950991	missense variant	-	NC_000019.10:g.5238936T>C	gnomAD
PTPRS	Q13332	p.Arg612His	rs946180785	missense variant	-	NC_000019.10:g.5238933C>T	TOPMed
PTPRS	Q13332	p.Arg612Cys	rs745665862	missense variant	-	NC_000019.10:g.5238934G>A	ExAC,gnomAD
PTPRS	Q13332	p.Thr613Met	rs913402227	missense variant	-	NC_000019.10:g.5238930G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Lys617Arg	rs1330682967	missense variant	-	NC_000019.10:g.5231615T>C	TOPMed
PTPRS	Q13332	p.Pro618Leu	rs777396253	missense variant	-	NC_000019.10:g.5231612G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ser619Ter	rs374621025	stop gained	-	NC_000019.10:g.5231609G>T	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Ala620Asp	rs752226232	missense variant	-	NC_000019.10:g.5231606G>T	ExAC,gnomAD
PTPRS	Q13332	p.Pro621His	rs766486140	missense variant	-	NC_000019.10:g.5231603G>T	ExAC,gnomAD
PTPRS	Q13332	p.Pro622Thr	rs1488250331	missense variant	-	NC_000019.10:g.5231601G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Pro622Ser	rs1488250331	missense variant	-	NC_000019.10:g.5231601G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Asp624Gly	rs760830146	missense variant	-	NC_000019.10:g.5231594T>C	ExAC,gnomAD
PTPRS	Q13332	p.Val630Leu	rs772048652	missense variant	-	NC_000019.10:g.5231577C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val630Met	rs772048652	missense variant	-	NC_000019.10:g.5231577C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg631Ser	rs779378586	missense variant	-	NC_000019.10:g.5231574G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg631Cys	rs779378586	missense variant	-	NC_000019.10:g.5231574G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr633Met	rs1216644787	missense variant	-	NC_000019.10:g.5231567G>A	gnomAD
PTPRS	Q13332	p.Ile635Val	rs771492236	missense variant	-	NC_000019.10:g.5231562T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg640His	rs150939732	missense variant	-	NC_000019.10:g.5231546C>T	ESP,ExAC,TOPMed
PTPRS	Q13332	p.Arg640Cys	rs868011195	missense variant	-	NC_000019.10:g.5231547G>A	gnomAD
PTPRS	Q13332	p.Pro641Leu	rs755739102	missense variant	-	NC_000019.10:g.5231543G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro641Ser	rs994725876	missense variant	-	NC_000019.10:g.5231544G>A	TOPMed
PTPRS	Q13332	p.Pro643Leu	rs754436545	missense variant	-	NC_000019.10:g.5231537G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro644Thr	rs766391106	missense variant	-	NC_000019.10:g.5231535G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro644Ala	rs766391106	missense variant	-	NC_000019.10:g.5231535G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro644Ser	rs766391106	missense variant	-	NC_000019.10:g.5231535G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro644Leu	rs758460182	missense variant	-	NC_000019.10:g.5231534G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr646Met	rs760884281	missense variant	-	NC_000019.10:g.5231528G>A	ExAC,gnomAD
PTPRS	Q13332	p.Gly649Arg	rs767837276	missense variant	-	NC_000019.10:g.5231520C>G	ExAC,gnomAD
PTPRS	Q13332	p.Gly649Arg	rs767837276	missense variant	-	NC_000019.10:g.5231520C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ala650Pro	rs759529027	missense variant	-	NC_000019.10:g.5231517C>G	ExAC,gnomAD
PTPRS	Q13332	p.Val652Leu	rs1220417036	missense variant	-	NC_000019.10:g.5231511C>G	gnomAD
PTPRS	Q13332	p.Ser655Gly	rs771403922	missense variant	-	NC_000019.10:g.5231502T>C	ExAC,gnomAD
PTPRS	Q13332	p.Arg657His	rs1386910242	missense variant	-	NC_000019.10:g.5231495C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg657Cys	rs200689431	missense variant	-	NC_000019.10:g.5231496G>A	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Pro660Leu	rs200771602	missense variant	-	NC_000019.10:g.5231486G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro660Gln	rs200771602	missense variant	-	NC_000019.10:g.5231486G>T	ExAC,gnomAD
PTPRS	Q13332	p.Ser663Leu	rs200172769	missense variant	-	NC_000019.10:g.5231477G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser663Pro	rs147784971	missense variant	-	NC_000019.10:g.5231478A>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser663Ala	rs147784971	missense variant	-	NC_000019.10:g.5231478A>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu664Ala	rs370707556	missense variant	-	NC_000019.10:g.5231474T>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu664Gln	rs1484148894	missense variant	-	NC_000019.10:g.5231475C>G	gnomAD
PTPRS	Q13332	p.Asp665Gly	rs1372364043	missense variant	-	NC_000019.10:g.5231471T>C	TOPMed
PTPRS	Q13332	p.Asp665Asn	rs1308508280	missense variant	-	NC_000019.10:g.5231472C>T	TOPMed
PTPRS	Q13332	p.Pro666Leu	rs1377623190	missense variant	-	NC_000019.10:g.5231468G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Lys669Glu	rs1355617947	missense variant	-	NC_000019.10:g.5231460T>C	TOPMed
PTPRS	Q13332	p.Gly673Ser	rs919758857	missense variant	-	NC_000019.10:g.5231448C>T	TOPMed
PTPRS	Q13332	p.Ile674Met	rs759801187	missense variant	-	NC_000019.10:g.5231443G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro675Thr	rs1238574782	missense variant	-	NC_000019.10:g.5231442G>T	gnomAD
PTPRS	Q13332	p.Pro676Leu	rs376058028	missense variant	-	NC_000019.10:g.5231438G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln680His	rs1306570922	missense variant	-	NC_000019.10:g.5231425C>G	gnomAD
PTPRS	Q13332	p.Gln680Glu	rs1313475733	missense variant	-	NC_000019.10:g.5231427G>C	gnomAD
PTPRS	Q13332	p.Glu684Lys	rs1036934835	missense variant	-	NC_000019.10:g.5231415C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Glu684Gln	rs1036934835	missense variant	-	NC_000019.10:g.5231415C>G	TOPMed,gnomAD
PTPRS	Q13332	p.Ala685Val	rs1333782961	missense variant	-	NC_000019.10:g.5231411G>A	gnomAD
PTPRS	Q13332	p.Trp689Ter	rs770401761	stop gained	-	NC_000019.10:g.5231399C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg693Cys	rs568688962	missense variant	-	NC_000019.10:g.5231388G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr695Met	rs370330291	missense variant	-	NC_000019.10:g.5231381G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr696Ile	rs1240330020	missense variant	-	NC_000019.10:g.5231378G>A	gnomAD
PTPRS	Q13332	p.Ala698Thr	rs778710485	missense variant	-	NC_000019.10:g.5231373C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu701Gln	rs757257991	missense variant	-	NC_000019.10:g.5231364C>G	ExAC
PTPRS	Q13332	p.Glu701Gly	rs753552451	missense variant	-	NC_000019.10:g.5231363T>C	ExAC,gnomAD
PTPRS	Q13332	p.Gly703Arg	rs147750933	missense variant	-	NC_000019.10:g.5231358C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro704Arg	rs945177819	missense variant	-	NC_000019.10:g.5231354G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Pro704Leu	rs945177819	missense variant	-	NC_000019.10:g.5231354G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Gly705Val	rs1243032613	missense variant	-	NC_000019.10:g.5231351C>A	gnomAD
PTPRS	Q13332	p.Pro706Leu	rs1340279963	missense variant	-	NC_000019.10:g.5231348G>A	gnomAD
PTPRS	Q13332	p.Glu707Asp	rs1053912542	missense variant	-	NC_000019.10:g.5231344C>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ser709Leu	rs370338775	missense variant	-	NC_000019.10:g.5231339G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro710Ser	rs1420442830	missense variant	-	NC_000019.10:g.5231337G>A	gnomAD
PTPRS	Q13332	p.Val711Met	rs765642813	missense variant	-	NC_000019.10:g.5231334C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val713Ile	rs1367694603	missense variant	-	NC_000019.10:g.5231328C>T	gnomAD
PTPRS	Q13332	p.Arg714Pro	rs769069932	missense variant	-	NC_000019.10:g.5231324C>G	ExAC,gnomAD
PTPRS	Q13332	p.Arg714Cys	rs776822913	missense variant	-	NC_000019.10:g.5231325G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg714His	rs769069932	missense variant	-	NC_000019.10:g.5231324C>T	ExAC,gnomAD
PTPRS	Q13332	p.Asp716Asn	rs1488356054	missense variant	-	NC_000019.10:g.5231319C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Asp716Glu	rs775268583	missense variant	-	NC_000019.10:g.5231317G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu717Lys	rs1447785084	missense variant	-	NC_000019.10:g.5231316C>T	TOPMed
PTPRS	Q13332	p.Asp718Gly	rs971664522	missense variant	-	NC_000019.10:g.5231312T>C	TOPMed
PTPRS	Q13332	p.Ala722Val	rs1393421847	missense variant	-	NC_000019.10:g.5229675G>A	TOPMed
PTPRS	Q13332	p.Ala722Thr	rs1374310303	missense variant	-	NC_000019.10:g.5229676C>T	TOPMed
PTPRS	Q13332	p.Val727Met	rs960841066	missense variant	-	NC_000019.10:g.5229661C>T	TOPMed
PTPRS	Q13332	p.Val727Ala	rs1360054733	missense variant	-	NC_000019.10:g.5229660A>G	gnomAD
PTPRS	Q13332	p.Ala729Val	rs1364091998	missense variant	-	NC_000019.10:g.5229654G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ala729Gly	rs1364091998	missense variant	-	NC_000019.10:g.5229654G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Ala731Val	rs1273151991	missense variant	-	NC_000019.10:g.5229648G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ala734Asp	rs1328222592	missense variant	-	NC_000019.10:g.5229639G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ala736Ser	rs1035485750	missense variant	-	NC_000019.10:g.5229634C>A	TOPMed
PTPRS	Q13332	p.Arg738His	rs1254439512	missense variant	-	NC_000019.10:g.5229627C>T	TOPMed
PTPRS	Q13332	p.Arg738Cys	rs1164098327	missense variant	-	NC_000019.10:g.5229628G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ala745Thr	rs1004888859	missense variant	-	NC_000019.10:g.5229607C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ala745Val	rs1064295	missense variant	-	NC_000019.10:g.5229606G>A	gnomAD
PTPRS	Q13332	p.Gly747Ser	rs1246891588	missense variant	-	NC_000019.10:g.5229601C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gly747Asp	rs1195141314	missense variant	-	NC_000019.10:g.5229600C>T	gnomAD
PTPRS	Q13332	p.Arg748Leu	rs1237963337	missense variant	-	NC_000019.10:g.5229597C>A	gnomAD
PTPRS	Q13332	p.Arg748Trp	rs1399739848	missense variant	-	NC_000019.10:g.5229598G>A	TOPMed
PTPRS	Q13332	p.His750Gln	rs1309771135	missense variant	-	NC_000019.10:g.5229590G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gln752Glu	rs769766853	missense variant	-	NC_000019.10:g.5229586G>C	ExAC,gnomAD
PTPRS	Q13332	p.Gln752His	rs1384894908	missense variant	-	NC_000019.10:g.5229584C>A	TOPMed
PTPRS	Q13332	p.Gln752Leu	rs1477293906	missense variant	-	NC_000019.10:g.5229585T>A	gnomAD
PTPRS	Q13332	p.Gln757Arg	rs1307585641	missense variant	-	NC_000019.10:g.5229570T>C	TOPMed
PTPRS	Q13332	p.His759Tyr	rs1305842029	missense variant	-	NC_000019.10:g.5229565G>A	gnomAD
PTPRS	Q13332	p.Tyr760Phe	rs1027605608	missense variant	-	NC_000019.10:g.5229561T>A	TOPMed
PTPRS	Q13332	p.Arg762His	rs1374294763	missense variant	-	NC_000019.10:g.5229555C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg762Ser	rs1038862962	missense variant	-	NC_000019.10:g.5229556G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg762Cys	rs1038862962	missense variant	-	NC_000019.10:g.5229556G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Met763Val	rs1442731364	missense variant	-	NC_000019.10:g.5229553T>C	TOPMed,gnomAD
PTPRS	Q13332	p.Met763Leu	rs1442731364	missense variant	-	NC_000019.10:g.5229553T>A	TOPMed,gnomAD
PTPRS	Q13332	p.Gly765Ala	rs1356179565	missense variant	-	NC_000019.10:g.5229546C>G	TOPMed,gnomAD
PTPRS	Q13332	p.Ala766Thr	rs780989941	missense variant	-	NC_000019.10:g.5229544C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ala768Gly	rs1174099281	missense variant	-	NC_000019.10:g.5229537G>C	TOPMed
PTPRS	Q13332	p.Ala768Pro	rs1175059175	missense variant	-	NC_000019.10:g.5229538C>G	gnomAD
PTPRS	Q13332	p.Arg769Cys	rs1437431875	missense variant	-	NC_000019.10:g.5229535G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Pro771Leu	rs542345642	missense variant	-	NC_000019.10:g.5229528G>A	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Pro771Ser	rs1053239616	missense variant	-	NC_000019.10:g.5229529G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Pro772Gln	rs1481847293	missense variant	-	NC_000019.10:g.5229525G>T	gnomAD
PTPRS	Q13332	p.Arg773His	rs1259120475	missense variant	-	NC_000019.10:g.5229522C>T	gnomAD
PTPRS	Q13332	p.Val777Ile	rs746107616	missense variant	-	NC_000019.10:g.5229511C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met778Ile	rs1298629875	missense variant	-	NC_000019.10:g.5229506C>G	TOPMed
PTPRS	Q13332	p.Asp781Asn	rs1303613614	missense variant	-	NC_000019.10:g.5229499C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Thr786Met	rs761681941	missense variant	-	NC_000019.10:g.5229335G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr786Arg	rs761681941	missense variant	-	NC_000019.10:g.5229335G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp788His	rs1390648362	missense variant	-	NC_000019.10:g.5229330C>G	gnomAD
PTPRS	Q13332	p.Tyr792His	rs181439211	missense variant	-	NC_000019.10:g.5229318A>G	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Glu793Gln	rs765509959	missense variant	-	NC_000019.10:g.5225844C>G	ExAC,gnomAD
PTPRS	Q13332	p.Val795Ala	rs1302269744	missense variant	-	NC_000019.10:g.5225837A>G	TOPMed
PTPRS	Q13332	p.Val795Ile	rs1231581355	missense variant	-	NC_000019.10:g.5225838C>T	TOPMed
PTPRS	Q13332	p.Thr797Arg	rs1313547507	missense variant	-	NC_000019.10:g.5225831G>C	gnomAD
PTPRS	Q13332	p.Asn798Asp	rs369508635	missense variant	-	NC_000019.10:g.5225829T>C	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Pro801Ala	rs1469389508	missense variant	-	NC_000019.10:g.5225820G>C	gnomAD
PTPRS	Q13332	p.Glu802Asp	rs747172851	missense variant	-	NC_000019.10:g.5225815C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala804Pro	rs202087387	missense variant	-	NC_000019.10:g.5225811C>G	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala804Thr	rs202087387	missense variant	-	NC_000019.10:g.5225811C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala804Val	rs772609224	missense variant	-	NC_000019.10:g.5225810G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ile807Val	rs756860719	missense variant	-	NC_000019.10:g.5225802T>C	ExAC,gnomAD
PTPRS	Q13332	p.Ile807Leu	rs756860719	missense variant	-	NC_000019.10:g.5225802T>G	ExAC,gnomAD
PTPRS	Q13332	p.Thr808Arg	rs748896771	missense variant	-	NC_000019.10:g.5225798G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr808Met	rs748896771	missense variant	-	NC_000019.10:g.5225798G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala810Thr	rs755562182	missense variant	-	NC_000019.10:g.5225793C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala811Thr	rs1340374850	missense variant	-	NC_000019.10:g.5225790C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Met814Thr	rs1338543715	missense variant	-	NC_000019.10:g.5225780A>G	gnomAD
PTPRS	Q13332	p.Lys815Arg	rs755012048	missense variant	-	NC_000019.10:g.5225777T>C	ExAC,gnomAD
PTPRS	Q13332	p.Asp817Asn	rs1159864455	missense variant	-	NC_000019.10:g.5225772C>T	TOPMed
PTPRS	Q13332	p.Ala819Thr	rs751437578	missense variant	-	NC_000019.10:g.5225766C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg820His	rs1012604149	missense variant	-	NC_000019.10:g.5225762C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg820Gly	rs1023625190	missense variant	-	NC_000019.10:g.5225763G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Arg820Cys	rs1023625190	missense variant	-	NC_000019.10:g.5225763G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Lys822Arg	rs1475868980	missense variant	-	NC_000019.10:g.5225756T>C	gnomAD
PTPRS	Q13332	p.Val826Ile	rs776708266	missense variant	-	NC_000019.10:g.5225745C>T	ExAC,gnomAD
PTPRS	Q13332	p.Gly830Arg	rs764444823	missense variant	-	NC_000019.10:g.5225733C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ala831Val	rs1015526594	missense variant	-	NC_000019.10:g.5225729G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ala831Thr	rs538765384	missense variant	-	NC_000019.10:g.5225730C>T	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Gly834Ser	rs1205852773	missense variant	-	NC_000019.10:g.5223292C>T	gnomAD
PTPRS	Q13332	p.Arg835His	rs746587534	missense variant	-	NC_000019.10:g.5223288C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg835Cys	rs141070507	missense variant	-	NC_000019.10:g.5223289G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr837Ile	rs1169291996	missense variant	-	NC_000019.10:g.5223282G>A	TOPMed
PTPRS	Q13332	p.Leu838Gln	rs201908599	missense variant	-	NC_000019.10:g.5223279A>T	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Ser839Ter	rs758410040	stop gained	-	NC_000019.10:g.5223276G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser839Leu	rs758410040	missense variant	-	NC_000019.10:g.5223276G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln841Ter	rs1449294721	stop gained	-	NC_000019.10:g.5223271G>A	TOPMed
PTPRS	Q13332	p.Thr843Asn	rs1305092282	missense variant	-	NC_000019.10:g.5223264G>T	TOPMed
PTPRS	Q13332	p.Pro844Ser	rs752927950	missense variant	-	NC_000019.10:g.5223262G>A	ExAC,gnomAD
PTPRS	Q13332	p.Glu845Gln	rs759604875	missense variant	-	NC_000019.10:g.5223259C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu845Lys	rs759604875	missense variant	-	NC_000019.10:g.5223259C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu845Ala	rs1433614221	missense variant	-	NC_000019.10:g.5223258T>G	gnomAD
PTPRS	Q13332	p.Gly846Asp	rs1375643869	missense variant	-	NC_000019.10:g.5223255C>T	gnomAD
PTPRS	Q13332	p.Leu849Gln	rs766771400	missense variant	-	NC_000019.10:g.5223246A>T	ExAC,gnomAD
PTPRS	Q13332	p.Ala850Val	rs1407721470	missense variant	-	NC_000019.10:g.5223243G>A	gnomAD
PTPRS	Q13332	p.Arg851Cys	rs763535247	missense variant	-	NC_000019.10:g.5223241G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg851Leu	rs199604489	missense variant	-	NC_000019.10:g.5223240C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg851His	rs199604489	missense variant	-	NC_000019.10:g.5223240C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg851Leu	RCV000754561	missense variant	-	NC_000019.10:g.5223240C>A	ClinVar
PTPRS	Q13332	p.Glu853Ala	rs115276698	missense variant	-	NC_000019.10:g.5223234T>G	1000Genomes,TOPMed,gnomAD
PTPRS	Q13332	p.Glu853Asp	rs961564035	missense variant	-	NC_000019.10:g.5223233C>G	TOPMed,gnomAD
PTPRS	Q13332	p.Glu853Lys	rs1239019907	missense variant	-	NC_000019.10:g.5223235C>T	TOPMed
PTPRS	Q13332	p.Pro854Ser	rs776422958	missense variant	-	NC_000019.10:g.5223232G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro854Leu	rs1263196047	missense variant	-	NC_000019.10:g.5223231G>A	TOPMed
PTPRS	Q13332	p.Pro854Thr	rs776422958	missense variant	-	NC_000019.10:g.5223232G>T	ExAC,gnomAD
PTPRS	Q13332	p.Pro855Arg	rs1214736605	missense variant	-	NC_000019.10:g.5223228G>C	gnomAD
PTPRS	Q13332	p.Pro855Leu	rs1214736605	missense variant	-	NC_000019.10:g.5223228G>A	gnomAD
PTPRS	Q13332	p.Thr858Ala	rs1173800965	missense variant	-	NC_000019.10:g.5223220T>C	TOPMed
PTPRS	Q13332	p.Ala859Val	rs200677865	missense variant	-	NC_000019.10:g.5223216G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala859Thr	rs1224185745	missense variant	-	NC_000019.10:g.5223217C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Asp861Asn	rs1413585604	missense variant	-	NC_000019.10:g.5223211C>T	gnomAD
PTPRS	Q13332	p.Gln862Glu	rs1314259486	missense variant	-	NC_000019.10:g.5223208G>C	gnomAD
PTPRS	Q13332	p.Val863Ala	rs1451171996	missense variant	-	NC_000019.10:g.5223204A>G	gnomAD
PTPRS	Q13332	p.Gly865Ser	rs1160265804	missense variant	-	NC_000019.10:g.5223199C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg867His	rs1416280955	missense variant	-	NC_000019.10:g.5223192C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg867Cys	rs371360214	missense variant	-	NC_000019.10:g.5223193G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln869Ter	rs781357409	stop gained	-	NC_000019.10:g.5223187G>A	ExAC,gnomAD
PTPRS	Q13332	p.Gln869Pro	rs1028115213	missense variant	-	NC_000019.10:g.5223186T>G	TOPMed
PTPRS	Q13332	p.Arg872Cys	rs151114416	missense variant	-	NC_000019.10:g.5223178G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg872Pro	rs374591804	missense variant	-	NC_000019.10:g.5223177C>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg872His	rs374591804	missense variant	-	NC_000019.10:g.5223177C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu873Ala	rs1488973838	missense variant	-	NC_000019.10:g.5223174T>G	TOPMed
PTPRS	Q13332	p.Asp874Glu	rs750931777	missense variant	-	NC_000019.10:g.5223170G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser875Trp	rs1478125902	missense variant	-	NC_000019.10:g.5223168G>C	TOPMed
PTPRS	Q13332	p.Thr876Met	rs372181642	missense variant	-	NC_000019.10:g.5223165G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro877Thr	rs763791689	missense variant	-	NC_000019.10:g.5223163G>T	ExAC,gnomAD
PTPRS	Q13332	p.Pro877Leu	rs1294580214	missense variant	-	NC_000019.10:g.5223162G>A	gnomAD
PTPRS	Q13332	p.Pro877Ser	rs763791689	missense variant	-	NC_000019.10:g.5223163G>A	ExAC,gnomAD
PTPRS	Q13332	p.Leu878Pro	rs1428091133	missense variant	-	NC_000019.10:g.5223159A>G	gnomAD
PTPRS	Q13332	p.Leu878Val	rs760436118	missense variant	-	NC_000019.10:g.5223160G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr880Asn	rs1332317323	missense variant	-	NC_000019.10:g.5223153G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Leu881Val	rs771623625	missense variant	-	NC_000019.10:g.5223151G>C	ExAC,gnomAD
PTPRS	Q13332	p.Phe883Leu	rs1322918895	missense variant	-	NC_000019.10:g.5223145A>G	TOPMed
PTPRS	Q13332	p.Pro884Leu	rs745426688	missense variant	-	NC_000019.10:g.5223141G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro884Ser	rs1164749059	missense variant	-	NC_000019.10:g.5223142G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Pro885Thr	rs1168390637	missense variant	-	NC_000019.10:g.5223139G>T	gnomAD
PTPRS	Q13332	p.Pro885Leu	rs774339890	missense variant	-	NC_000019.10:g.5223138G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu887Lys	rs1007529586	missense variant	-	NC_000019.10:g.5223133C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg889Gly	rs148744813	missense variant	-	NC_000019.10:g.5223127G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg889Cys	rs148744813	missense variant	-	NC_000019.10:g.5223127G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg889His	rs747248153	missense variant	-	NC_000019.10:g.5223126C>T	ExAC,gnomAD
PTPRS	Q13332	p.Tyr890His	rs780201997	missense variant	-	NC_000019.10:g.5223124A>G	ExAC,gnomAD
PTPRS	Q13332	p.Thr891Met	rs375155482	missense variant	-	NC_000019.10:g.5223120G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala892Thr	rs765752538	missense variant	-	NC_000019.10:g.5223118C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ala892Val	rs757862631	missense variant	-	NC_000019.10:g.5223117G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ser893Leu	rs748343733	missense variant	-	NC_000019.10:g.5223114G>A	gnomAD
PTPRS	Q13332	p.Gly894Val	rs754216245	missense variant	-	NC_000019.10:g.5223111C>A	ExAC,gnomAD
PTPRS	Q13332	p.Val895Met	rs764560600	missense variant	-	NC_000019.10:g.5223109C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.His896Gln	rs539486011	missense variant	-	NC_000019.10:g.5223104G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.His896Tyr	rs550128751	missense variant	-	NC_000019.10:g.5223106G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Lys897Arg	rs1296988917	missense variant	-	NC_000019.10:g.5223102T>C	gnomAD
PTPRS	Q13332	p.Ala899Val	rs909751365	missense variant	-	NC_000019.10:g.5223096G>A	TOPMed
PTPRS	Q13332	p.Ala899Ser	rs370681168	missense variant	-	NC_000019.10:g.5223097C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr900Met	rs773778652	missense variant	-	NC_000019.10:g.5223093G>A	ExAC,gnomAD
PTPRS	Q13332	p.Val902Glu	rs1192744560	missense variant	-	NC_000019.10:g.5223087A>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg904Gln	rs377203716	missense variant	-	NC_000019.10:g.5223081C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg904Trp	rs1269321557	missense variant	-	NC_000019.10:g.5223082G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Leu905Phe	rs1479985617	missense variant	-	NC_000019.10:g.5223079G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ala906Val	rs1251374260	missense variant	-	NC_000019.10:g.5223075G>A	gnomAD
PTPRS	Q13332	p.Ala907Val	rs200860780	missense variant	-	NC_000019.10:g.5223072G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala907Gly	rs200860780	missense variant	-	NC_000019.10:g.5223072G>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg908Gln	rs1020631416	missense variant	-	NC_000019.10:g.5223069C>T	TOPMed
PTPRS	Q13332	p.Arg908Trp	rs370397015	missense variant	-	NC_000019.10:g.5223070G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg910Cys	rs1369452734	missense variant	-	NC_000019.10:g.5223064G>A	gnomAD
PTPRS	Q13332	p.Arg910His	rs1305417503	missense variant	-	NC_000019.10:g.5223063C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gly911Ser	rs374643204	missense variant	-	NC_000019.10:g.5223061C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly912Ser	rs906063149	missense variant	-	NC_000019.10:g.5223058C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Leu913Pro	rs1014303618	missense variant	-	NC_000019.10:g.5223054A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Leu913Arg	rs1014303618	missense variant	-	NC_000019.10:g.5223054A>C	TOPMed,gnomAD
PTPRS	Q13332	p.Leu913Val	rs1354306749	missense variant	-	NC_000019.10:g.5223055G>C	gnomAD
PTPRS	Q13332	p.Glu915Lys	rs1379163672	missense variant	-	NC_000019.10:g.5223049C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Glu916Val	rs527272427	missense variant	-	NC_000019.10:g.5223045T>A	1000Genomes,TOPMed,gnomAD
PTPRS	Q13332	p.Glu916Ala	rs527272427	missense variant	-	NC_000019.10:g.5223045T>G	1000Genomes,TOPMed,gnomAD
PTPRS	Q13332	p.Glu916Lys	rs1394120193	missense variant	-	NC_000019.10:g.5223046C>T	TOPMed
PTPRS	Q13332	p.Ala917Val	rs1037036904	missense variant	-	NC_000019.10:g.5223042G>A	TOPMed
PTPRS	Q13332	p.Ala918Asp	rs1316753061	missense variant	-	NC_000019.10:g.5223039G>T	TOPMed
PTPRS	Q13332	p.Glu919Ala	rs1251215196	missense variant	-	NC_000019.10:g.5223036T>G	gnomAD
PTPRS	Q13332	p.Ser922Gly	rs909875098	missense variant	-	NC_000019.10:g.5223028T>C	TOPMed
PTPRS	Q13332	p.Pro924Leu	rs370088739	missense variant	-	NC_000019.10:g.5223021G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro924Ala	rs1211174007	missense variant	-	NC_000019.10:g.5223022G>C	gnomAD
PTPRS	Q13332	p.Asp926Tyr	rs767176479	missense variant	-	NC_000019.10:g.5223016C>A	ExAC,gnomAD
PTPRS	Q13332	p.Asp926Glu	rs956514858	missense variant	-	NC_000019.10:g.5223014G>C	TOPMed
PTPRS	Q13332	p.Thr927Lys	rs759129843	missense variant	-	NC_000019.10:g.5223012G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr927Met	rs759129843	missense variant	-	NC_000019.10:g.5223012G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro928Leu	rs1478220397	missense variant	-	NC_000019.10:g.5223009G>A	TOPMed
PTPRS	Q13332	p.Arg929Pro	rs1313647555	missense variant	-	NC_000019.10:g.5223006C>G	TOPMed,gnomAD
PTPRS	Q13332	p.Arg929Cys	rs61729778	missense variant	-	NC_000019.10:g.5223007G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg929His	rs1313647555	missense variant	-	NC_000019.10:g.5223006C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gly930Ser	rs1416848107	missense variant	-	NC_000019.10:g.5223004C>T	gnomAD
PTPRS	Q13332	p.His931Gln	rs1202103155	missense variant	-	NC_000019.10:g.5222999G>T	gnomAD
PTPRS	Q13332	p.His931Pro	rs1402658601	missense variant	-	NC_000019.10:g.5223000T>G	TOPMed
PTPRS	Q13332	p.Pro932Leu	rs1156567371	missense variant	-	NC_000019.10:g.5222997G>A	gnomAD
PTPRS	Q13332	p.Pro932Arg	rs1156567371	missense variant	-	NC_000019.10:g.5222997G>C	gnomAD
PTPRS	Q13332	p.Gln933His	rs1364268470	missense variant	-	NC_000019.10:g.5222993C>G	gnomAD
PTPRS	Q13332	p.Ile934Ser	rs1161310685	missense variant	-	NC_000019.10:g.5222991A>C	gnomAD
PTPRS	Q13332	p.Leu935Val	rs1064296	missense variant	-	NC_000019.10:g.5222989G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Ala937Val	rs762510209	missense variant	-	NC_000019.10:g.5222982G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala938Thr	rs1443767326	missense variant	-	NC_000019.10:g.5222980C>T	gnomAD
PTPRS	Q13332	p.Asn940Lys	rs182769562	missense variant	-	NC_000019.10:g.5222972G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala941Val	rs772298342	missense variant	-	NC_000019.10:g.5222970G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala941Thr	rs201435229	missense variant	-	NC_000019.10:g.5222971C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser942Pro	rs1285984808	missense variant	-	NC_000019.10:g.5222968A>G	TOPMed
PTPRS	Q13332	p.Ser942Leu	rs1293966082	missense variant	-	NC_000019.10:g.5222967G>A	gnomAD
PTPRS	Q13332	p.Gly944Arg	rs1014796224	missense variant	-	NC_000019.10:g.5222962C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Thr945Ser	rs895982467	missense variant	-	NC_000019.10:g.5222959T>A	TOPMed,gnomAD
PTPRS	Q13332	p.Thr945Ser	rs1385418553	missense variant	-	NC_000019.10:g.5222958G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Thr945Ile	rs1385418553	missense variant	-	NC_000019.10:g.5222958G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Thr945Ala	rs895982467	missense variant	-	NC_000019.10:g.5222959T>C	TOPMed,gnomAD
PTPRS	Q13332	p.Val946Ile	rs778392508	missense variant	-	NC_000019.10:g.5222956C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg949His	rs1370939047	missense variant	-	NC_000019.10:g.5222946C>T	gnomAD
PTPRS	Q13332	p.Arg949Cys	rs781437725	missense variant	-	NC_000019.10:g.5222947G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro952Arg	rs1420265669	missense variant	-	NC_000019.10:g.5222937G>C	TOPMed
PTPRS	Q13332	p.Val954Met	rs749987801	missense variant	-	NC_000019.10:g.5222932C>T	ExAC,gnomAD
PTPRS	Q13332	p.Val954Leu	rs749987801	missense variant	-	NC_000019.10:g.5222932C>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro955Leu	rs1048404327	missense variant	-	NC_000019.10:g.5222928G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Pro955Ser	rs1385812531	missense variant	-	NC_000019.10:g.5222929G>A	TOPMed
PTPRS	Q13332	p.Ala956Thr	rs564427160	missense variant	-	NC_000019.10:g.5222926C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala956Gly	rs1337555183	missense variant	-	NC_000019.10:g.5222925G>C	gnomAD
PTPRS	Q13332	p.Glu957Gln	rs768350891	missense variant	-	NC_000019.10:g.5222923C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu957Lys	rs768350891	missense variant	-	NC_000019.10:g.5222923C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg958Cys	rs760578565	missense variant	-	NC_000019.10:g.5222920G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg958His	rs374990235	missense variant	-	NC_000019.10:g.5222919C>T	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Gly960Arg	rs749356058	missense variant	-	NC_000019.10:g.5222914C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile962Val	rs770291253	missense variant	-	NC_000019.10:g.5222908T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val963Ile	rs62113240	missense variant	-	NC_000019.10:g.5222905C>T	ExAC,gnomAD
PTPRS	Q13332	p.Lys964Glu	rs1379482387	missense variant	-	NC_000019.10:g.5222902T>C	TOPMed
PTPRS	Q13332	p.Lys964Asn	rs1440176761	missense variant	-	NC_000019.10:g.5222900T>G	TOPMed
PTPRS	Q13332	p.Thr966Met	rs915133073	missense variant	-	NC_000019.10:g.5222895G>A	TOPMed
PTPRS	Q13332	p.Ala968Val	rs747443047	missense variant	-	NC_000019.10:g.5222889G>A	ExAC,gnomAD
PTPRS	Q13332	p.Val969Met	rs758072738	missense variant	-	NC_000019.10:g.5222887C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg970Gln	rs764731638	missense variant	-	NC_000019.10:g.5222883C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg970Trp	rs369041852	missense variant	-	NC_000019.10:g.5222884G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala972Val	rs1272370030	missense variant	-	NC_000019.10:g.5222877G>A	gnomAD
PTPRS	Q13332	p.Gly973Ser	rs372440262	missense variant	-	NC_000019.10:g.5222875C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala974Pro	rs912026736	missense variant	-	NC_000019.10:g.5222872C>G	TOPMed,gnomAD
PTPRS	Q13332	p.Ala974Val	rs1369997087	missense variant	-	NC_000019.10:g.5222871G>A	gnomAD
PTPRS	Q13332	p.Ala974Thr	rs912026736	missense variant	-	NC_000019.10:g.5222872C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gly976Val	rs986697718	missense variant	-	NC_000019.10:g.5222865C>A	TOPMed,gnomAD
PTPRS	Q13332	p.Pro977Thr	rs1410080119	missense variant	-	NC_000019.10:g.5222863G>T	gnomAD
PTPRS	Q13332	p.Ala978Val	rs1171385518	missense variant	-	NC_000019.10:g.5222859G>A	gnomAD
PTPRS	Q13332	p.Arg979Ter	rs1028304582	stop gained	-	NC_000019.10:g.5222857G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Arg979Gln	rs1193352037	missense variant	-	NC_000019.10:g.5222856C>T	gnomAD
PTPRS	Q13332	p.Arg979Gly	rs1028304582	missense variant	-	NC_000019.10:g.5222857G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Thr981Ser	rs773355226	missense variant	-	NC_000019.10:g.5222851T>A	ExAC,gnomAD
PTPRS	Q13332	p.Thr981Ser	rs1484090676	missense variant	-	NC_000019.10:g.5222850G>C	TOPMed,gnomAD
PTPRS	Q13332	p.Thr981Ile	rs1484090676	missense variant	-	NC_000019.10:g.5222850G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Pro984Leu	rs776974729	missense variant	-	NC_000019.10:g.5222841G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro984Thr	rs1348958046	missense variant	-	NC_000019.10:g.5222842G>T	gnomAD
PTPRS	Q13332	p.Ala985Gly	rs747329678	missense variant	-	NC_000019.10:g.5222838G>C	ExAC,gnomAD
PTPRS	Q13332	p.Ala985Val	rs747329678	missense variant	-	NC_000019.10:g.5222838G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ala986Val	rs368886554	missense variant	-	NC_000019.10:g.5222835G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala987Ser	rs868294368	missense variant	-	NC_000019.10:g.5222833C>A	gnomAD
PTPRS	Q13332	p.Pro989Ser	rs1359440247	missense variant	-	NC_000019.10:g.5222827G>A	gnomAD
PTPRS	Q13332	p.Pro989Leu	rs756719219	missense variant	-	NC_000019.10:g.5222826G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ala991Thr	rs201357930	missense variant	-	NC_000019.10:g.5222821C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala991Val	rs2230610	missense variant	-	NC_000019.10:g.5222820G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu992Ala	rs368236845	missense variant	-	NC_000019.10:g.5222817T>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu992Gly	rs368236845	missense variant	-	NC_000019.10:g.5222817T>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala994Thr	rs201423065	missense variant	-	NC_000019.10:g.5222812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala994Val	rs370623380	missense variant	-	NC_000019.10:g.5222811G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu995Phe	rs1228933665	missense variant	-	NC_000019.10:g.5222809G>A	gnomAD
PTPRS	Q13332	p.Thr996Met	rs775778266	missense variant	-	NC_000019.10:g.5222805G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln998Ter	rs1379393228	stop gained	-	NC_000019.10:g.5222800G>A	gnomAD
PTPRS	Q13332	p.Gln998Arg	rs746300376	missense variant	-	NC_000019.10:g.5222799T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly999Ser	rs936424649	missense variant	-	NC_000019.10:g.5222797C>T	TOPMed
PTPRS	Q13332	p.Lys1001Asn	rs1416406546	missense variant	-	NC_000019.10:g.5222789C>G	gnomAD
PTPRS	Q13332	p.Pro1002His	rs770663085	missense variant	-	NC_000019.10:g.5222787G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1003Glu	rs752695186	missense variant	-	NC_000019.10:g.5222783G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1003Asn	rs756049037	missense variant	-	NC_000019.10:g.5222785C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1004Ala	rs781335825	missense variant	-	NC_000019.10:g.5222782T>C	ExAC,gnomAD
PTPRS	Q13332	p.Thr1004Met	rs754813198	missense variant	-	NC_000019.10:g.5222781G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ala1005Ser	rs762127352	missense variant	-	NC_000019.10:g.5222779C>A	ExAC,gnomAD
PTPRS	Q13332	p.Ala1005Val	rs753793633	missense variant	-	NC_000019.10:g.5222778G>A	ExAC,gnomAD
PTPRS	Q13332	p.Tyr1006His	rs1174340046	missense variant	-	NC_000019.10:g.5222776A>G	TOPMed
PTPRS	Q13332	p.Asp1007Glu	rs772609297	missense variant	-	NC_000019.10:g.5222771G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1009Lys	rs943824465	missense variant	-	NC_000019.10:g.5222767G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gln1009Ter	rs943824465	stop gained	-	NC_000019.10:g.5222767G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Val1010Leu	rs1360908131	missense variant	-	NC_000019.10:g.5222764C>G	gnomAD
PTPRS	Q13332	p.Arg1011Ter	rs770446171	stop gained	-	NC_000019.10:g.5222761G>A	ExAC,gnomAD
PTPRS	Q13332	p.Arg1011Gln	rs1392874652	missense variant	-	NC_000019.10:g.5222760C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ala1012Val	rs777089062	missense variant	-	NC_000019.10:g.5222757G>A	ExAC,gnomAD
PTPRS	Q13332	p.Thr1014Met	rs1391073074	missense variant	-	NC_000019.10:g.5222751G>A	gnomAD
PTPRS	Q13332	p.Thr1014Ala	rs1428131078	missense variant	-	NC_000019.10:g.5222752T>C	gnomAD
PTPRS	Q13332	p.Arg1015His	rs751272492	missense variant	-	NC_000019.10:g.5222748C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1015Pro	rs751272492	missense variant	-	NC_000019.10:g.5222748C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1015Cys	rs199829286	missense variant	-	NC_000019.10:g.5222749G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1016Trp	rs779903263	missense variant	-	NC_000019.10:g.5222746G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1016Gln	rs374799314	missense variant	-	NC_000019.10:g.5222745C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1016Pro	rs374799314	missense variant	-	NC_000019.10:g.5222745C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1020Thr	rs1306524101	missense variant	-	NC_000019.10:g.5222734G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ser1022Gly	rs1231013843	missense variant	-	NC_000019.10:g.5222728T>C	gnomAD
PTPRS	Q13332	p.Pro1023Ser	rs752821383	missense variant	-	NC_000019.10:g.5222725G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1023Arg	rs1303233646	missense variant	-	NC_000019.10:g.5222724G>C	gnomAD
PTPRS	Q13332	p.Pro1023Thr	rs752821383	missense variant	-	NC_000019.10:g.5222725G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1023Leu	rs1303233646	missense variant	-	NC_000019.10:g.5222724G>A	gnomAD
PTPRS	Q13332	p.Pro1023Ala	rs752821383	missense variant	-	NC_000019.10:g.5222725G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1024His	rs772912033	missense variant	-	NC_000019.10:g.5222721G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1024Arg	rs772912033	missense variant	-	NC_000019.10:g.5222721G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1024Ala	rs202163446	missense variant	-	NC_000019.10:g.5222722G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1024Ser	rs202163446	missense variant	-	NC_000019.10:g.5222722G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1024Thr	rs202163446	missense variant	-	NC_000019.10:g.5222722G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1024Leu	rs772912033	missense variant	-	NC_000019.10:g.5222721G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1025Ile	rs374875451	missense variant	-	NC_000019.10:g.5222719C>T	ESP,ExAC,TOPMed
PTPRS	Q13332	p.Val1025Phe	rs374875451	missense variant	-	NC_000019.10:g.5222719C>A	ESP,ExAC,TOPMed
PTPRS	Q13332	p.Arg1026Cys	rs746980740	missense variant	-	NC_000019.10:g.5222716G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1026His	rs779918003	missense variant	-	NC_000019.10:g.5222715C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Tyr1027Cys	rs745694014	missense variant	-	NC_000019.10:g.5222712T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1028Trp	rs769764410	missense variant	-	NC_000019.10:g.5222710G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1028Gly	rs769764410	missense variant	-	NC_000019.10:g.5222710G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1028Gln	rs752731468	missense variant	-	NC_000019.10:g.5222709C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1029Met	rs767586201	missense variant	-	NC_000019.10:g.5222706G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1031Pro	rs1206861930	missense variant	-	NC_000019.10:g.5222700A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1032Gly	rs766862256	missense variant	-	NC_000019.10:g.5222698G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1032Gln	rs370399999	missense variant	-	NC_000019.10:g.5222697C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1032Trp	rs766862256	missense variant	-	NC_000019.10:g.5222698G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1033Asn	rs773496700	missense variant	-	NC_000019.10:g.5222695C>T	ExAC,gnomAD
PTPRS	Q13332	p.Asp1033Glu	rs1351187602	missense variant	-	NC_000019.10:g.5222693G>C	gnomAD
PTPRS	Q13332	p.Ser1036Leu	rs372067337	missense variant	-	NC_000019.10:g.5222217G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn1039Ser	rs759102109	missense variant	-	NC_000019.10:g.5222208T>C	ExAC,gnomAD
PTPRS	Q13332	p.Lys1041Met	rs1174993660	missense variant	-	NC_000019.10:g.5222202T>A	gnomAD
PTPRS	Q13332	p.Val1042Met	rs774267588	missense variant	-	NC_000019.10:g.5222200C>T	ExAC,gnomAD
PTPRS	Q13332	p.Lys1043Glu	rs1211765615	missense variant	-	NC_000019.10:g.5222197T>C	gnomAD
PTPRS	Q13332	p.Met1044Thr	rs1329534234	missense variant	-	NC_000019.10:g.5222193A>G	TOPMed
PTPRS	Q13332	p.Met1044Ile	rs1454313241	missense variant	-	NC_000019.10:g.5222192C>T	gnomAD
PTPRS	Q13332	p.Ile1045Val	rs1337663643	missense variant	-	NC_000019.10:g.5222191T>C	TOPMed,gnomAD
PTPRS	Q13332	p.Ser1049Ala	rs770895185	missense variant	-	NC_000019.10:g.5222179A>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1051Val	rs146080105	missense variant	-	NC_000019.10:g.5222173G>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Phe1056Val	rs772903486	missense variant	-	NC_000019.10:g.5222158A>C	ExAC,gnomAD
PTPRS	Q13332	p.Pro1057Ser	rs768857484	missense variant	-	NC_000019.10:g.5222155G>A	ExAC,gnomAD
PTPRS	Q13332	p.Asp1058Glu	rs747212154	missense variant	-	NC_000019.10:g.5222150G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn1059Lys	rs780382156	missense variant	-	NC_000019.10:g.5222147G>T	ExAC,gnomAD
PTPRS	Q13332	p.Tyr1060Ser	rs1393807141	missense variant	-	NC_000019.10:g.5222145T>G	TOPMed,gnomAD
PTPRS	Q13332	p.Thr1064Pro	rs966517708	missense variant	-	NC_000019.10:g.5222134T>G	gnomAD
PTPRS	Q13332	p.Thr1064Ile	rs1195525448	missense variant	-	NC_000019.10:g.5222133G>A	gnomAD
PTPRS	Q13332	p.Pro1065Ala	rs141765312	missense variant	-	NC_000019.10:g.5222131G>C	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Pro1065Leu	rs779544389	missense variant	-	NC_000019.10:g.5222130G>A	ExAC,gnomAD
PTPRS	Q13332	p.Gln1069Arg	rs1475035175	missense variant	-	NC_000019.10:g.5221249T>C	TOPMed
PTPRS	Q13332	p.Gln1069Ter	rs757962488	stop gained	-	NC_000019.10:g.5221250G>A	ExAC,gnomAD
PTPRS	Q13332	p.Leu1073Phe	rs138649939	missense variant	-	NC_000019.10:g.5221238G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1075Met	rs776516569	missense variant	-	NC_000019.10:g.5221232G>T	ExAC,gnomAD
PTPRS	Q13332	p.Val1077Ala	rs1212037871	missense variant	-	NC_000019.10:g.5221225A>G	gnomAD
PTPRS	Q13332	p.Gly1079Asp	rs767809989	missense variant	-	NC_000019.10:g.5221219C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1080Cys	rs774511967	missense variant	-	NC_000019.10:g.5221217G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1080Leu	rs771119355	missense variant	-	NC_000019.10:g.5221216C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1080His	rs771119355	missense variant	-	NC_000019.10:g.5221216C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1081Ile	rs1316669370	missense variant	-	NC_000019.10:g.5221213G>A	TOPMed
PTPRS	Q13332	p.Thr1082Ile	rs959828503	missense variant	-	NC_000019.10:g.5221210G>A	TOPMed
PTPRS	Q13332	p.Lys1083Met	rs1300507338	missense variant	-	NC_000019.10:g.5221207T>A	TOPMed
PTPRS	Q13332	p.Leu1085Phe	rs1379503828	missense variant	-	NC_000019.10:g.5221202G>A	gnomAD
PTPRS	Q13332	p.Thr1087Met	rs200191658	missense variant	-	NC_000019.10:g.5221195G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn1096Asp	rs1203670272	missense variant	-	NC_000019.10:g.5221169T>C	TOPMed
PTPRS	Q13332	p.Asn1096Ser	rs202061843	missense variant	-	NC_000019.10:g.5221168T>C	ExAC,gnomAD
PTPRS	Q13332	p.Asn1101Ser	rs377654164	missense variant	-	NC_000019.10:g.5221153T>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn1101Asp	rs1164236147	missense variant	-	NC_000019.10:g.5221154T>C	gnomAD
PTPRS	Q13332	p.Arg1102His	rs575201235	missense variant	-	NC_000019.10:g.5221150C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1103Ser	rs765040102	missense variant	-	NC_000019.10:g.5221148C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ser1105Asn	rs1209147609	missense variant	-	NC_000019.10:g.5221141C>T	TOPMed
PTPRS	Q13332	p.Ser1105Arg	rs1249771341	missense variant	-	NC_000019.10:g.5221140G>T	TOPMed
PTPRS	Q13332	p.Gly1108Ser	rs544466481	missense variant	-	NC_000019.10:g.5221133C>T	gnomAD
PTPRS	Q13332	p.Thr1112Met	rs201447856	missense variant	-	NC_000019.10:g.5221120G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1115Thr	rs769925793	missense variant	-	NC_000019.10:g.5221112C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1115Thr	RCV000754560	missense variant	-	NC_000019.10:g.5221112C>T	ClinVar
PTPRS	Q13332	p.Thr1117Ser	rs1458048934	missense variant	-	NC_000019.10:g.5221105G>C	TOPMed
PTPRS	Q13332	p.Phe1119Ser	rs1341900869	missense variant	-	NC_000019.10:g.5221099A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Asn1120Ser	rs372506721	missense variant	-	NC_000019.10:g.5221096T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn1120Thr	rs372506721	missense variant	-	NC_000019.10:g.5221096T>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1121Val	rs748360435	missense variant	-	NC_000019.10:g.5221094G>C	ExAC,TOPMed
PTPRS	Q13332	p.Asn1123Asp	rs769004088	missense variant	-	NC_000019.10:g.5221088T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1124Ser	rs779660659	missense variant	-	NC_000019.10:g.5221085C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1128Phe	rs371881792	missense variant	-	NC_000019.10:g.5221073C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1128Ile	rs371881792	missense variant	-	NC_000019.10:g.5221073C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1129Thr	rs199805837	missense variant	-	NC_000019.10:g.5221070C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1130Ser	rs1209240784	missense variant	-	NC_000019.10:g.5221067G>A	TOPMed
PTPRS	Q13332	p.Asp1135Tyr	rs755938901	missense variant	-	NC_000019.10:g.5221052C>A	ExAC,gnomAD
PTPRS	Q13332	p.Asp1135His	rs755938901	missense variant	-	NC_000019.10:g.5221052C>G	ExAC,gnomAD
PTPRS	Q13332	p.Gly1136Ser	rs140049694	missense variant	-	NC_000019.10:g.5221049C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1136Asp	rs924348462	missense variant	-	NC_000019.10:g.5221048C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Met1139Thr	rs914037320	missense variant	-	NC_000019.10:g.5221039A>G	TOPMed
PTPRS	Q13332	p.Met1139Val	rs1231130806	missense variant	-	NC_000019.10:g.5221040T>C	gnomAD
PTPRS	Q13332	p.Gly1145Arg	rs765371680	missense variant	-	NC_000019.10:g.5221022C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1145Asp	rs866466115	missense variant	-	NC_000019.10:g.5221021C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gly1145Ser	rs765371680	missense variant	-	NC_000019.10:g.5221022C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1146His	rs1461372872	missense variant	-	NC_000019.10:g.5221017C>G	TOPMed
PTPRS	Q13332	p.Gln1146Glu	rs1306330316	missense variant	-	NC_000019.10:g.5221019G>C	gnomAD
PTPRS	Q13332	p.Pro1148His	rs761866681	missense variant	-	NC_000019.10:g.5221012G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1149Ala	rs760980604	missense variant	-	NC_000019.10:g.5221009A>G	ExAC,gnomAD
PTPRS	Q13332	p.Val1149Met	rs147801733	missense variant	-	NC_000019.10:g.5221010C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1152Arg	rs772064790	missense variant	-	NC_000019.10:g.5221000T>C	gnomAD
PTPRS	Q13332	p.Ile1156Val	rs781048317	missense variant	-	NC_000019.10:g.5220343T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1158Ile	rs1286194006	missense variant	-	NC_000019.10:g.5220335C>T	TOPMed
PTPRS	Q13332	p.Arg1162Leu	rs746829913	missense variant	-	NC_000019.10:g.5220324C>A	ExAC,gnomAD
PTPRS	Q13332	p.Arg1162Cys	rs754772522	missense variant	-	NC_000019.10:g.5220325G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1162His	rs746829913	missense variant	-	NC_000019.10:g.5220324C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ser1164Pro	rs910146505	missense variant	-	NC_000019.10:g.5220319A>G	TOPMed
PTPRS	Q13332	p.Arg1165Pro	rs1034131598	missense variant	-	NC_000019.10:g.5220315C>G	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1165His	rs1034131598	missense variant	-	NC_000019.10:g.5220315C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gly1166Arg	rs1326503987	missense variant	-	NC_000019.10:g.5220313C>T	gnomAD
PTPRS	Q13332	p.Gly1167Asp	rs1465789831	missense variant	-	NC_000019.10:g.5220309C>T	gnomAD
PTPRS	Q13332	p.Gln1168Arg	rs1263912912	missense variant	-	NC_000019.10:g.5220306T>C	gnomAD
PTPRS	Q13332	p.Phe1169Leu	rs779149362	missense variant	-	NC_000019.10:g.5220302G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Phe1169Leu	rs779149362	missense variant	-	NC_000019.10:g.5220302G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1172Leu	rs764176169	missense variant	-	NC_000019.10:g.5220294G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1174Ser	rs753240051	missense variant	-	NC_000019.10:g.5220289C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1178Asn	rs774597513	missense variant	-	NC_000019.10:g.5220277C>T	ExAC,gnomAD
PTPRS	Q13332	p.Asp1178Glu	rs1384602128	missense variant	-	NC_000019.10:g.5220275G>C	gnomAD
PTPRS	Q13332	p.Met1179Ile	rs1461228258	missense variant	-	NC_000019.10:g.5220272C>T	gnomAD
PTPRS	Q13332	p.Met1179Thr	rs1163896977	missense variant	-	NC_000019.10:g.5220273A>G	TOPMed
PTPRS	Q13332	p.Met1179Leu	rs1389490950	missense variant	-	NC_000019.10:g.5220274T>G	TOPMed,gnomAD
PTPRS	Q13332	p.Met1179Val	rs1389490950	missense variant	-	NC_000019.10:g.5220274T>C	TOPMed,gnomAD
PTPRS	Q13332	p.Leu1181Pro	rs1388692315	missense variant	-	NC_000019.10:g.5220267A>G	gnomAD
PTPRS	Q13332	p.Leu1181Val	rs762696876	missense variant	-	NC_000019.10:g.5220268G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1181Met	rs762696876	missense variant	-	NC_000019.10:g.5220268G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1183Gln	rs1168400719	missense variant	-	NC_000019.10:g.5220262C>G	gnomAD
PTPRS	Q13332	p.Ile1185Leu	rs760546803	missense variant	-	NC_000019.10:g.5220151T>G	ExAC
PTPRS	Q13332	p.Asp1187Gly	rs1342415870	missense variant	-	NC_000019.10:g.5220144T>C	TOPMed
PTPRS	Q13332	p.Arg1190Pro	rs771853690	missense variant	-	NC_000019.10:g.5220135C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1190Gln	rs771853690	missense variant	-	NC_000019.10:g.5220135C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1192Arg	rs376266471	missense variant	-	NC_000019.10:g.5220129T>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1194Cys	rs1269111261	missense variant	-	NC_000019.10:g.5220124G>A	gnomAD
PTPRS	Q13332	p.Arg1194His	rs115469963	missense variant	-	NC_000019.10:g.5220123C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1197Trp	rs781134304	missense variant	-	NC_000019.10:g.5220115G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1197Gln	rs1471312670	missense variant	-	NC_000019.10:g.5220114C>T	gnomAD
PTPRS	Q13332	p.Ser1199Leu	rs755452432	missense variant	-	NC_000019.10:g.5220108G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1200His	rs781371580	missense variant	-	NC_000019.10:g.5220105C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg1200Cys	rs1390942862	missense variant	-	NC_000019.10:g.5220106G>A	TOPMed
PTPRS	Q13332	p.Gln1201His	rs1440713936	missense variant	-	NC_000019.10:g.5220101C>G	TOPMed,gnomAD
PTPRS	Q13332	p.Gln1201Ter	rs1204949982	stop gained	-	NC_000019.10:g.5220103G>A	gnomAD
PTPRS	Q13332	p.Glu1203Lys	rs957224661	missense variant	-	NC_000019.10:g.5220097C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Val1204Gly	rs1377303300	missense variant	-	NC_000019.10:g.5220093A>C	TOPMed
PTPRS	Q13332	p.Val1204Met	rs750841016	missense variant	-	NC_000019.10:g.5220094C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg1206Gln	rs142918634	missense variant	-	NC_000019.10:g.5220087C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1206Pro	rs142918634	missense variant	-	NC_000019.10:g.5220087C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1206Trp	rs764944959	missense variant	-	NC_000019.10:g.5220088G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1206Leu	rs142918634	missense variant	-	NC_000019.10:g.5220087C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1209Val	rs760302776	missense variant	-	NC_000019.10:g.5220079T>C	ExAC,gnomAD
PTPRS	Q13332	p.Arg1212Ser	rs542361035	missense variant	-	NC_000019.10:g.5220070G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1212Cys	rs542361035	missense variant	-	NC_000019.10:g.5220070G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1212His	rs375875548	missense variant	-	NC_000019.10:g.5220069C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1215Gly	rs769934024	missense variant	-	NC_000019.10:g.5220060A>C	ExAC,gnomAD
PTPRS	Q13332	p.Val1215Leu	rs774159488	missense variant	-	NC_000019.10:g.5220061C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1219Met	rs1265450607	missense variant	-	NC_000019.10:g.5220048G>A	TOPMed
PTPRS	Q13332	p.His1221Asn	rs114904537	missense variant	-	NC_000019.10:g.5220043G>T	1000Genomes
PTPRS	Q13332	p.Pro1222Leu	rs768612717	missense variant	-	NC_000019.10:g.5220039G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro1222Ala	rs372619078	missense variant	-	NC_000019.10:g.5220040G>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1224Asn	rs145842090	missense variant	-	NC_000019.10:g.5220034C>T	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Gln1225His	rs779435853	missense variant	-	NC_000019.10:g.5220029C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1225Arg	rs746169857	missense variant	-	NC_000019.10:g.5220030T>C	ExAC,gnomAD
PTPRS	Q13332	p.Gln1227Pro	rs757700265	missense variant	-	NC_000019.10:g.5220024T>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1227Arg	rs757700265	missense variant	-	NC_000019.10:g.5220024T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Tyr1228Asn	rs1176871419	missense variant	-	NC_000019.10:g.5220022A>T	TOPMed
PTPRS	Q13332	p.Gly1230Ser	rs202004674	missense variant	-	NC_000019.10:g.5220016C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1230Asp	rs1433499108	missense variant	-	NC_000019.10:g.5220015C>T	gnomAD
PTPRS	Q13332	p.Asp1232Asn	rs752222706	missense variant	-	NC_000019.10:g.5220010C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1232His	rs752222706	missense variant	-	NC_000019.10:g.5220010C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1234Trp	rs866165812	missense variant	-	NC_000019.10:g.5220004G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1234Pro	rs767400237	missense variant	-	NC_000019.10:g.5220003C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1234Gln	rs767400237	missense variant	-	NC_000019.10:g.5220003C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1235Val	rs759472181	missense variant	-	NC_000019.10:g.5220000C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1235Asp	rs759472181	missense variant	-	NC_000019.10:g.5220000C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1237Asp	rs200307602	missense variant	-	NC_000019.10:g.5219993C>A	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Gly1239Ser	rs369971329	missense variant	-	NC_000019.10:g.5219989C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1241His	rs202091186	missense variant	-	NC_000019.10:g.5219982C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1241Cys	rs201990407	missense variant	-	NC_000019.10:g.5219983G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1247Phe	rs1220355220	missense variant	-	NC_000019.10:g.5219965G>A	gnomAD
PTPRS	Q13332	p.Val1249Met	rs116545788	missense variant	-	NC_000019.10:g.5219959C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1251Arg	rs757534258	missense variant	-	NC_000019.10:g.5219952T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1251Leu	rs757534258	missense variant	-	NC_000019.10:g.5219952T>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Lys1252Glu	rs1296936066	missense variant	-	NC_000019.10:g.5219950T>C	gnomAD
PTPRS	Q13332	p.Ser1253Arg	rs61743105	missense variant	-	NC_000019.10:g.5219945G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser1253Asn	rs777238128	missense variant	-	NC_000019.10:g.5219946C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ser1253Gly	rs749715659	missense variant	-	NC_000019.10:g.5219947T>C	ExAC,gnomAD
PTPRS	Q13332	p.Glu1254Lys	rs1405757941	missense variant	-	NC_000019.10:g.5219944C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Pro1255Ala	rs139608745	missense variant	-	NC_000019.10:g.5219941G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1255Thr	rs139608745	missense variant	-	NC_000019.10:g.5219941G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1259Val	rs1156383212	missense variant	-	NC_000019.10:g.5219457G>A	gnomAD
PTPRS	Q13332	p.Ser1260Asn	rs1452566818	missense variant	-	NC_000019.10:g.5219454C>T	gnomAD
PTPRS	Q13332	p.Pro1261Ala	rs763526954	missense variant	-	NC_000019.10:g.5219452G>C	ExAC,gnomAD
PTPRS	Q13332	p.Pro1261His	rs1161671874	missense variant	-	NC_000019.10:g.5219451G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Asp1264Glu	rs1239728663	missense variant	-	NC_000019.10:g.5219441G>T	TOPMed
PTPRS	Q13332	p.Gln1267Ter	rs1422453480	stop gained	-	NC_000019.10:g.5219434G>A	gnomAD
PTPRS	Q13332	p.Asp1269Glu	rs748550727	missense variant	-	NC_000019.10:g.5219426A>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1269Gly	rs1221129890	missense variant	-	NC_000019.10:g.5219427T>C	TOPMed
PTPRS	Q13332	p.Asp1269Asn	rs761904835	missense variant	-	NC_000019.10:g.5219428C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1269His	rs761904835	missense variant	-	NC_000019.10:g.5219428C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1271Ser	rs1204660130	missense variant	-	NC_000019.10:g.5219422G>A	gnomAD
PTPRS	Q13332	p.Pro1271Leu	rs1351608223	missense variant	-	NC_000019.10:g.5219421G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ile1276Met	rs768318893	missense variant	-	NC_000019.10:g.5219405G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1277Met	rs146012732	missense variant	-	NC_000019.10:g.5219404C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1277Leu	rs146012732	missense variant	-	NC_000019.10:g.5219404C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1280Asp	rs750373156	missense variant	-	NC_000019.10:g.5219393C>G	ExAC,gnomAD
PTPRS	Q13332	p.Glu1280Lys	rs757905971	missense variant	-	NC_000019.10:g.5219395C>T	ExAC,gnomAD
PTPRS	Q13332	p.Gly1288Arg	rs1385155560	missense variant	-	NC_000019.10:g.5219371C>T	gnomAD
PTPRS	Q13332	p.Leu1291Val	rs1003437214	missense variant	-	NC_000019.10:g.5219362G>C	gnomAD
PTPRS	Q13332	p.Val1293Met	rs763007823	missense variant	-	NC_000019.10:g.5219356C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Phe1295Cys	rs773740248	missense variant	-	NC_000019.10:g.5219349A>C	ExAC
PTPRS	Q13332	p.Ile1296Val	rs1446928503	missense variant	-	NC_000019.10:g.5219347T>C	gnomAD
PTPRS	Q13332	p.Cys1298Ser	rs762117575	missense variant	-	NC_000019.10:g.5219341A>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Cys1298Gly	rs762117575	missense variant	-	NC_000019.10:g.5219341A>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1299Thr	rs1330761136	missense variant	-	NC_000019.10:g.5219337A>G	TOPMed
PTPRS	Q13332	p.Ile1301Thr	rs376345440	missense variant	-	NC_000019.10:g.5219331A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Ala1302Thr	rs1312373726	missense variant	-	NC_000019.10:g.5219329C>T	gnomAD
PTPRS	Q13332	p.Ile1303Val	rs149250405	missense variant	-	NC_000019.10:g.5219326T>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1305Phe	rs1246481445	missense variant	-	NC_000019.10:g.5219320G>A	gnomAD
PTPRS	Q13332	p.Pro1310Leu	rs773998457	missense variant	-	NC_000019.10:g.5218793G>A	ExAC,gnomAD
PTPRS	Q13332	p.Asp1311Asn	rs370343222	missense variant	-	NC_000019.10:g.5218791C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1311Tyr	rs370343222	missense variant	-	NC_000019.10:g.5218791C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1311His	rs370343222	missense variant	-	NC_000019.10:g.5218791C>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser1312Asn	rs780275846	missense variant	-	NC_000019.10:g.5218787C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ser1312Gly	rs747944058	missense variant	-	NC_000019.10:g.5218788T>C	ExAC,gnomAD
PTPRS	Q13332	p.Arg1314His	rs767763908	missense variant	-	NC_000019.10:g.5218527C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1314Cys	rs374745287	missense variant	-	NC_000019.10:g.5218528G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Lys1315Arg	rs760047878	missense variant	-	NC_000019.10:g.5218524T>C	ExAC,gnomAD
PTPRS	Q13332	p.Glu1318Asp	rs766184946	missense variant	-	NC_000019.10:g.5218514T>G	ExAC,gnomAD
PTPRS	Q13332	p.Glu1318Lys	rs751229657	missense variant	-	NC_000019.10:g.5218516C>T	ExAC,gnomAD
PTPRS	Q13332	p.Pro1319Leu	rs762505033	missense variant	-	NC_000019.10:g.5218512G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro1319Ser	rs1052009018	missense variant	-	NC_000019.10:g.5218513G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Pro1319Arg	rs762505033	missense variant	-	NC_000019.10:g.5218512G>C	ExAC,gnomAD
PTPRS	Q13332	p.Arg1320Cys	rs772880114	missense variant	-	NC_000019.10:g.5218510G>A	ExAC,gnomAD
PTPRS	Q13332	p.Cys1323Tyr	rs145751069	missense variant	-	NC_000019.10:g.5218500C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1324Val	rs1239121684	missense variant	-	NC_000019.10:g.5218498G>C	TOPMed
PTPRS	Q13332	p.Leu1325Val	rs1310899689	missense variant	-	NC_000019.10:g.5218495G>C	TOPMed
PTPRS	Q13332	p.Asp1329Asn	rs370332631	missense variant	-	NC_000019.10:g.5218483C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1331Gly	rs779055431	missense variant	-	NC_000019.10:g.5218476G>C	ExAC,gnomAD
PTPRS	Q13332	p.Ala1331Thr	rs1361339357	missense variant	-	NC_000019.10:g.5218477C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Ala1331Val	rs779055431	missense variant	-	NC_000019.10:g.5218476G>A	ExAC,gnomAD
PTPRS	Q13332	p.His1333Tyr	rs367722276	missense variant	-	NC_000019.10:g.5218471G>A	ESP,TOPMed,gnomAD
PTPRS	Q13332	p.His1334Tyr	rs771170964	missense variant	-	NC_000019.10:g.5218468G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1335Thr	rs749295712	missense variant	-	NC_000019.10:g.5218465G>T	ExAC,gnomAD
PTPRS	Q13332	p.Val1339Met	rs1423783416	missense variant	-	NC_000019.10:g.5218453C>T	gnomAD
PTPRS	Q13332	p.Glu1340Ala	rs1366044529	missense variant	-	NC_000019.10:g.5218449T>G	gnomAD
PTPRS	Q13332	p.Met1341Ile	rs777724238	missense variant	-	NC_000019.10:g.5218445C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg1342Ser	rs374679831	missense variant	-	NC_000019.10:g.5218442T>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1343Cys	rs753143589	missense variant	-	NC_000019.10:g.5218441G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1343His	rs201934952	missense variant	-	NC_000019.10:g.5218440C>T	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Arg1343Gly	rs753143589	missense variant	-	NC_000019.10:g.5218441G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1343Leu	rs201934952	missense variant	-	NC_000019.10:g.5218440C>A	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Ile1344Val	rs1476169496	missense variant	-	NC_000019.10:g.5218438T>C	gnomAD
PTPRS	Q13332	p.Phe1346Leu	rs1266362648	missense variant	-	NC_000019.10:g.5218432A>G	gnomAD
PTPRS	Q13332	p.Gly1352Asp	rs1403235094	missense variant	-	NC_000019.10:g.5216761C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1354Gly	rs1440592448	missense variant	-	NC_000019.10:g.5216756T>C	TOPMed
PTPRS	Q13332	p.Ser1355Asn	rs764987592	missense variant	-	NC_000019.10:g.5216752C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser1355Ile	rs764987592	missense variant	-	NC_000019.10:g.5216752C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1357Phe	rs1469959251	missense variant	-	NC_000019.10:g.5216747G>A	gnomAD
PTPRS	Q13332	p.Pro1360Leu	rs753417682	missense variant	-	NC_000019.10:g.5216737G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1360Gln	rs753417682	missense variant	-	NC_000019.10:g.5216737G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1361Val	rs866147610	missense variant	-	NC_000019.10:g.5216734C>A	gnomAD
PTPRS	Q13332	p.Gly1361Glu	rs866147610	missense variant	-	NC_000019.10:g.5216734C>T	gnomAD
PTPRS	Q13332	p.Phe1362Leu	rs1460411052	missense variant	-	NC_000019.10:g.5216732A>G	gnomAD
PTPRS	Q13332	p.Phe1364Leu	rs1162516954	missense variant	-	NC_000019.10:g.5216726A>G	TOPMed
PTPRS	Q13332	p.Phe1364Ser	rs199585880	missense variant	-	NC_000019.10:g.5216725A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1365Asp	rs955550206	missense variant	-	NC_000019.10:g.5216721T>G	TOPMed
PTPRS	Q13332	p.Glu1365Ala	rs775461256	missense variant	-	NC_000019.10:g.5216722T>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1367Ile	rs1265626893	missense variant	-	NC_000019.10:g.5215591C>T	gnomAD
PTPRS	Q13332	p.Leu1368Phe	rs1285393473	missense variant	-	NC_000019.10:g.5215590G>A	TOPMed
PTPRS	Q13332	p.Ser1369Arg	rs1021700507	missense variant	-	NC_000019.10:g.5215585G>T	gnomAD
PTPRS	Q13332	p.His1370Tyr	rs909186181	missense variant	-	NC_000019.10:g.5215584G>A	TOPMed
PTPRS	Q13332	p.Pro1371Leu	rs760885887	missense variant	-	NC_000019.10:g.5215580G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1372Leu	rs772736665	missense variant	-	NC_000019.10:g.5215577G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ile1373Val	rs1210337335	missense variant	-	NC_000019.10:g.5215575T>C	gnomAD
PTPRS	Q13332	p.Ile1375Val	rs1358436135	missense variant	-	NC_000019.10:g.5215569T>C	gnomAD
PTPRS	Q13332	p.Ala1376Thr	rs200850387	missense variant	-	NC_000019.10:g.5215566C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1376Ser	rs200850387	missense variant	-	NC_000019.10:g.5215566C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1377Asn	rs1226089200	missense variant	-	NC_000019.10:g.5215563C>T	gnomAD
PTPRS	Q13332	p.Met1378Thr	rs1340688664	missense variant	-	NC_000019.10:g.5215559A>G	gnomAD
PTPRS	Q13332	p.Ala1379Glu	rs373247829	missense variant	-	NC_000019.10:g.5215556G>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1379Val	rs373247829	missense variant	-	NC_000019.10:g.5215556G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1382Met	rs558948003	missense variant	-	NC_000019.10:g.5215547G>A	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Glu1383Lys	rs755603479	missense variant	-	NC_000019.10:g.5215545C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg1384Trp	rs1394993665	missense variant	-	NC_000019.10:g.5215542G>A	gnomAD
PTPRS	Q13332	p.Arg1384Gln	rs114166264	missense variant	-	NC_000019.10:g.5215541C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn1388Lys	rs140530332	missense variant	-	NC_000019.10:g.5215528G>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1389Asn	rs267605547	missense variant	-	NC_000019.10:g.5215527C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1391Ile	rs1482164454	missense variant	-	NC_000019.10:g.5215521G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Lys1392Arg	rs1020485119	missense variant	-	NC_000019.10:g.5215517T>C	TOPMed,gnomAD
PTPRS	Q13332	p.Leu1393Phe	rs369098162	missense variant	-	NC_000019.10:g.5215515G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1401Asn	rs374920205	missense variant	-	NC_000019.10:g.5215406C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1402Thr	rs1455732532	missense variant	-	NC_000019.10:g.5215403G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Pro1402Ser	rs1455732532	missense variant	-	NC_000019.10:g.5215403G>A	TOPMed,gnomAD
PTPRS	Q13332	p.His1410Leu	rs1379803911	missense variant	-	NC_000019.10:g.5215378T>A	gnomAD
PTPRS	Q13332	p.His1410Arg	rs1379803911	missense variant	-	NC_000019.10:g.5215378T>C	gnomAD
PTPRS	Q13332	p.Asn1412Thr	rs201183797	missense variant	-	NC_000019.10:g.5215372T>G	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Asn1412Lys	rs1364755919	missense variant	-	NC_000019.10:g.5215371G>T	gnomAD
PTPRS	Q13332	p.Asn1412Ser	rs201183797	missense variant	-	NC_000019.10:g.5215372T>C	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Asn1416Lys	rs773573468	missense variant	-	NC_000019.10:g.5215359G>T	ExAC,gnomAD
PTPRS	Q13332	p.Pro1418Leu	rs530579519	missense variant	-	NC_000019.10:g.5215354G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1418Ala	rs1399239013	missense variant	-	NC_000019.10:g.5215355G>C	gnomAD
PTPRS	Q13332	p.Arg1421Cys	rs1440179947	missense variant	-	NC_000019.10:g.5215346G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1421His	rs1420232605	missense variant	-	NC_000019.10:g.5215345C>T	gnomAD
PTPRS	Q13332	p.Val1425Ile	rs768182732	missense variant	-	NC_000019.10:g.5215334C>T	ExAC,gnomAD
PTPRS	Q13332	p.Val1425Leu	rs768182732	missense variant	-	NC_000019.10:g.5215334C>G	ExAC,gnomAD
PTPRS	Q13332	p.Ile1426Leu	rs976014452	missense variant	-	NC_000019.10:g.5215331T>G	TOPMed
PTPRS	Q13332	p.Ala1427Ser	rs114545401	missense variant	-	NC_000019.10:g.5215328C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1427Val	rs1283955648	missense variant	-	NC_000019.10:g.5215327G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ala1427Thr	rs114545401	missense variant	-	NC_000019.10:g.5215328C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1429Tyr	rs1217838563	missense variant	-	NC_000019.10:g.5215322C>A	gnomAD
PTPRS	Q13332	p.His1430Tyr	rs1356400067	missense variant	-	NC_000019.10:g.5215319G>A	gnomAD
PTPRS	Q13332	p.His1430Gln	rs778834304	missense variant	-	NC_000019.10:g.5215317G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1432His	rs1379973129	missense variant	-	NC_000019.10:g.5215312C>T	gnomAD
PTPRS	Q13332	p.Pro1437Leu	rs190342971	missense variant	-	NC_000019.10:g.5215297G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1438Thr	rs766847307	missense variant	-	NC_000019.10:g.5215294A>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1438Leu	rs751626412	missense variant	-	NC_000019.10:g.5215295T>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1441Phe	rs528875239	missense variant	-	NC_000019.10:g.5214734T>A	1000Genomes,gnomAD
PTPRS	Q13332	p.Ile1441Leu	rs528875239	missense variant	-	NC_000019.10:g.5214734T>G	1000Genomes,gnomAD
PTPRS	Q13332	p.Met1442Val	rs747192109	missense variant	-	NC_000019.10:g.5214731T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1442Leu	rs747192109	missense variant	-	NC_000019.10:g.5214731T>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1442Thr	rs974923793	missense variant	-	NC_000019.10:g.5214730A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Gly1443Ser	rs780295096	missense variant	-	NC_000019.10:g.5214728C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ser1444Thr	rs1328615941	missense variant	-	NC_000019.10:g.5214724C>G	TOPMed
PTPRS	Q13332	p.Asp1445Gly	rs1270305003	missense variant	-	NC_000019.10:g.5214721T>C	TOPMed
PTPRS	Q13332	p.Asn1448His	rs1426779255	missense variant	-	NC_000019.10:g.5214713T>G	gnomAD
PTPRS	Q13332	p.Val1452Met	rs192807174	missense variant	-	NC_000019.10:g.5214701C>T	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Asp1453Asn	rs1031952638	missense variant	-	NC_000019.10:g.5214698C>T	TOPMed
PTPRS	Q13332	p.Gly1454Ser	rs1457749790	missense variant	-	NC_000019.10:g.5214695C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gly1454Cys	rs1457749790	missense variant	-	NC_000019.10:g.5214695C>A	TOPMed,gnomAD
PTPRS	Q13332	p.Tyr1455Cys	rs1238817348	missense variant	-	NC_000019.10:g.5214691T>C	gnomAD
PTPRS	Q13332	p.Arg1456Trp	rs373940938	missense variant	-	NC_000019.10:g.5214689G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1456Gln	rs752266796	missense variant	-	NC_000019.10:g.5214688C>T	ExAC,gnomAD
PTPRS	Q13332	p.Cys1457Tyr	rs369756620	missense variant	-	NC_000019.10:g.5214685C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Cys1457Arg	rs4807697	missense variant	-	NC_000019.10:g.5214686A>G	UniProt,dbSNP
PTPRS	Q13332	p.Cys1457Arg	VAR_047277	missense variant	-	NC_000019.10:g.5214686A>G	UniProt
PTPRS	Q13332	p.Cys1457Arg	rs4807697	missense variant	-	NC_000019.10:g.5214686A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn1459Ser	rs1221980061	missense variant	-	NC_000019.10:g.5214679T>C	gnomAD
PTPRS	Q13332	p.Ala1460Val	rs762790087	missense variant	-	NC_000019.10:g.5214676G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1460Thr	rs189135288	missense variant	-	NC_000019.10:g.5214677C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Tyr1461Ter	rs1301896231	stop gained	-	NC_000019.10:g.5214672G>T	gnomAD
PTPRS	Q13332	p.Ile1462Val	rs930416291	missense variant	-	NC_000019.10:g.5214671T>C	TOPMed
PTPRS	Q13332	p.Ala1463Ser	rs1466270055	missense variant	-	NC_000019.10:g.5214668C>A	gnomAD
PTPRS	Q13332	p.Thr1464Met	rs1274728310	missense variant	-	NC_000019.10:g.5214664G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Gly1466Ala	rs775641545	missense variant	-	NC_000019.10:g.5214658C>G	ExAC,gnomAD
PTPRS	Q13332	p.Pro1467Leu	rs116660613	missense variant	-	NC_000019.10:g.5214655G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1469Leu	rs1255636453	missense variant	-	NC_000019.10:g.5214649G>A	gnomAD
PTPRS	Q13332	p.Arg1477His	rs532712500	missense variant	-	NC_000019.10:g.5214625C>T	gnomAD
PTPRS	Q13332	p.Arg1477Cys	rs757423838	missense variant	-	NC_000019.10:g.5214626G>A	ExAC,gnomAD
PTPRS	Q13332	p.Val1479Met	rs749723623	missense variant	-	NC_000019.10:g.5214620C>T	ExAC,gnomAD
PTPRS	Q13332	p.Trp1480Ter	rs778389901	stop gained	-	NC_000019.10:g.5214616C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1483Trp	rs376549612	missense variant	-	NC_000019.10:g.5214608G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1483Gln	rs767215087	missense variant	-	NC_000019.10:g.5214607C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser1484Leu	rs754694289	missense variant	-	NC_000019.10:g.5214604G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1485Thr	rs765806159	missense variant	-	NC_000019.10:g.5214602C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1485Val	rs139132124	missense variant	-	NC_000019.10:g.5214601G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1487Val	rs1326918817	missense variant	-	NC_000019.10:g.5214596T>C	gnomAD
PTPRS	Q13332	p.Val1488Ile	rs116515629	missense variant	-	NC_000019.10:g.5214593C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1489Thr	rs776422333	missense variant	-	NC_000019.10:g.5214589A>G	ExAC,gnomAD
PTPRS	Q13332	p.Thr1491Met	rs768496731	missense variant	-	NC_000019.10:g.5214583G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1492Trp	rs369295620	missense variant	-	NC_000019.10:g.5214581G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1492Gln	rs770889503	missense variant	-	NC_000019.10:g.5214580C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1492Leu	rs770889503	missense variant	-	NC_000019.10:g.5214580C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1493Arg	rs1285057720	missense variant	-	NC_000019.10:g.5214577A>C	TOPMed
PTPRS	Q13332	p.Glu1495Lys	rs1218678810	missense variant	-	NC_000019.10:g.5214572C>T	gnomAD
PTPRS	Q13332	p.Ser1497Leu	rs1264309988	missense variant	-	NC_000019.10:g.5214565G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1498Leu	rs748467965	missense variant	-	NC_000019.10:g.5214562C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1498Trp	rs1205787412	missense variant	-	NC_000019.10:g.5214563G>A	TOPMed
PTPRS	Q13332	p.Arg1498Gln	rs748467965	missense variant	-	NC_000019.10:g.5214562C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1499Ser	rs769120046	missense variant	-	NC_000019.10:g.5214479A>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Lys1500Asn	rs61729768	missense variant	-	NC_000019.10:g.5214475C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1503Glu	rs368562196	missense variant	-	NC_000019.10:g.5214468G>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn1507Ser	rs928845139	missense variant	-	NC_000019.10:g.5214455T>C	gnomAD
PTPRS	Q13332	p.Gly1509Ser	rs778479954	missense variant	-	NC_000019.10:g.5214450C>T	ExAC,gnomAD
PTPRS	Q13332	p.Thr1510Met	rs147152459	missense variant	-	NC_000019.10:g.5214446G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1512Ala	rs1197491728	missense variant	-	NC_000019.10:g.5214441T>C	gnomAD
PTPRS	Q13332	p.Tyr1513Phe	rs760418863	missense variant	-	NC_000019.10:g.5214437T>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Tyr1513Cys	rs760418863	missense variant	-	NC_000019.10:g.5214437T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1514Arg	rs116099658	missense variant	-	NC_000019.10:g.5214435C>G	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1514Ser	rs116099658	missense variant	-	NC_000019.10:g.5214435C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1516Val	rs540902322	missense variant	-	NC_000019.10:g.5214429T>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1517Arg	rs1375370905	missense variant	-	NC_000019.10:g.5214425T>C	gnomAD
PTPRS	Q13332	p.Gln1517Ter	rs1236009082	stop gained	-	NC_000019.10:g.5214426G>A	gnomAD
PTPRS	Q13332	p.Val1518Ala	rs1308542151	missense variant	-	NC_000019.10:g.5214422A>G	gnomAD
PTPRS	Q13332	p.Thr1519Met	rs773377919	missense variant	-	NC_000019.10:g.5214419G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1522Gly	rs1166726276	missense variant	-	NC_000019.10:g.5214410T>C	TOPMed,gnomAD
PTPRS	Q13332	p.Glu1525Lys	rs769320080	missense variant	-	NC_000019.10:g.5214402C>T	ExAC,gnomAD
PTPRS	Q13332	p.Val1531Ile	rs772384138	missense variant	-	NC_000019.10:g.5214384C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1531Phe	rs772384138	missense variant	-	NC_000019.10:g.5214384C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1533Ser	rs1177403750	missense variant	-	NC_000019.10:g.5214378T>A	gnomAD
PTPRS	Q13332	p.Phe1534Ser	rs527477754	missense variant	-	NC_000019.10:g.5214374A>G	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Phe1534Leu	rs143481159	missense variant	-	NC_000019.10:g.5214375A>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Phe1534Leu	rs533685228	missense variant	-	NC_000019.10:g.5214373G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Phe1534Leu	rs533685228	missense variant	-	NC_000019.10:g.5214373G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser1535Phe	rs977538185	missense variant	-	NC_000019.10:g.5214371G>A	TOPMed,gnomAD
PTPRS	Q13332	p.His1537Asp	rs754773533	missense variant	-	NC_000019.10:g.5214366G>C	ExAC,gnomAD
PTPRS	Q13332	p.His1537Arg	rs1483140281	missense variant	-	NC_000019.10:g.5214365T>C	gnomAD
PTPRS	Q13332	p.His1537Gln	rs747517599	missense variant	-	NC_000019.10:g.5214364G>C	gnomAD
PTPRS	Q13332	p.Lys1538Glu	rs750640223	missense variant	-	NC_000019.10:g.5214363T>C	ExAC,gnomAD
PTPRS	Q13332	p.Arg1545Ser	rs757568361	missense variant	-	NC_000019.10:g.5212473G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1545Cys	rs757568361	missense variant	-	NC_000019.10:g.5212473G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1545His	rs754177433	missense variant	-	NC_000019.10:g.5212472C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1546Lys	rs776015928	missense variant	-	NC_000019.10:g.5212470C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1548His	rs753499659	missense variant	-	NC_000019.10:g.5212463C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg1548Cys	rs369058883	missense variant	-	NC_000019.10:g.5212464G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1549Lys	rs771340725	missense variant	-	NC_000019.10:g.5212461G>T	ExAC,gnomAD
PTPRS	Q13332	p.Thr1553Met	rs182037655	missense variant	-	NC_000019.10:g.5212448G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1554Val	rs1191088838	missense variant	-	NC_000019.10:g.5212445G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Trp1555Cys	rs1248490430	missense variant	-	NC_000019.10:g.5212441C>A	gnomAD
PTPRS	Q13332	p.Pro1556Leu	rs1196839847	missense variant	-	NC_000019.10:g.5212439G>A	gnomAD
PTPRS	Q13332	p.Asp1557Tyr	rs1258938541	missense variant	-	NC_000019.10:g.5212437C>A	gnomAD
PTPRS	Q13332	p.Val1560Leu	rs150241840	missense variant	-	NC_000019.10:g.5212428C>G	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1560Met	rs150241840	missense variant	-	NC_000019.10:g.5212428C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1561Thr	rs1368253825	missense variant	-	NC_000019.10:g.5212425G>T	gnomAD
PTPRS	Q13332	p.Glu1562Lys	rs778163463	missense variant	-	NC_000019.10:g.5212422C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1562Ala	rs1375587926	missense variant	-	NC_000019.10:g.5212421T>G	gnomAD
PTPRS	Q13332	p.Thr1565Met	rs768007031	missense variant	-	NC_000019.10:g.5212412G>A	ExAC,gnomAD
PTPRS	Q13332	p.Thr1565Ala	rs752720358	missense variant	-	NC_000019.10:g.5212413T>C	ExAC,gnomAD
PTPRS	Q13332	p.Pro1566Ser	rs1415481564	missense variant	-	NC_000019.10:g.5212410G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ala1569Asp	rs1397448438	missense variant	-	NC_000019.10:g.5212400G>T	gnomAD
PTPRS	Q13332	p.Arg1572Gly	rs558410776	missense variant	-	NC_000019.10:g.5212392G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1572Trp	rs558410776	missense variant	-	NC_000019.10:g.5212392G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1572Gln	rs769362751	missense variant	-	NC_000019.10:g.5212391C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg1573Gly	rs1482411453	missense variant	-	NC_000019.10:g.5212389T>C	gnomAD
PTPRS	Q13332	p.Cys1577Arg	rs544938921	missense variant	-	NC_000019.10:g.5212377A>G	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Cys1577Ter	rs1286819853	stop gained	-	NC_000019.10:g.5212375G>T	gnomAD
PTPRS	Q13332	p.Asn1578Ser	rs1209168744	missense variant	-	NC_000019.10:g.5212373T>C	gnomAD
PTPRS	Q13332	p.Pro1579Leu	rs372226485	missense variant	-	NC_000019.10:g.5212370G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1579Arg	rs372226485	missense variant	-	NC_000019.10:g.5212370G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1580Ser	rs1237948621	missense variant	-	NC_000019.10:g.5212368G>A	gnomAD
PTPRS	Q13332	p.Asp1581Glu	rs1352291696	missense variant	-	NC_000019.10:g.5212363A>C	gnomAD
PTPRS	Q13332	p.Ala1582Thr	rs1309412012	missense variant	-	NC_000019.10:g.5212362C>T	gnomAD
PTPRS	Q13332	p.Ala1582Val	rs771943247	missense variant	-	NC_000019.10:g.5212361G>A	ExAC,gnomAD
PTPRS	Q13332	p.Gly1583Ser	rs777981018	missense variant	-	NC_000019.10:g.5212359C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1584Ser	rs1449197300	missense variant	-	NC_000019.10:g.5212356G>A	gnomAD
PTPRS	Q13332	p.Ile1585Val	rs915320010	missense variant	-	NC_000019.10:g.5212353T>C	TOPMed
PTPRS	Q13332	p.Val1586Met	rs140472977	missense variant	-	NC_000019.10:g.5212350C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1587Leu	rs1380942206	missense variant	-	NC_000019.10:g.5212347C>G	gnomAD
PTPRS	Q13332	p.Gly1592Ser	rs571743236	missense variant	-	NC_000019.10:g.5212246C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1595His	rs1385628370	missense variant	-	NC_000019.10:g.5212236C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1595Cys	rs776677741	missense variant	-	NC_000019.10:g.5212237G>A	ExAC,gnomAD
PTPRS	Q13332	p.Phe1599Tyr	rs1355060495	missense variant	-	NC_000019.10:g.5212224A>T	TOPMed
PTPRS	Q13332	p.Val1601Ile	rs367918810	missense variant	-	NC_000019.10:g.5212219C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asp1603Asn	rs151279682	missense variant	-	NC_000019.10:g.5212213C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1604Ser	rs377564137	missense variant	-	NC_000019.10:g.5212210C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1604Thr	rs377564137	missense variant	-	NC_000019.10:g.5212210C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1607Val	rs1431393078	missense variant	-	NC_000019.10:g.5212200T>A	gnomAD
PTPRS	Q13332	p.Arg1608Trp	rs142364974	missense variant	-	NC_000019.10:g.5212198G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1608Gln	rs148739536	missense variant	-	NC_000019.10:g.5212197C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1611Ser	rs1255744139	missense variant	-	NC_000019.10:g.5212189G>A	gnomAD
PTPRS	Q13332	p.Val1617Phe	rs144570007	missense variant	-	NC_000019.10:g.5212171C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1617Ile	rs144570007	missense variant	-	NC_000019.10:g.5212171C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Tyr1618Cys	rs1393306881	missense variant	-	NC_000019.10:g.5212167T>C	TOPMed
PTPRS	Q13332	p.Val1621Leu	rs1242977508	missense variant	-	NC_000019.10:g.5212159C>A	TOPMed
PTPRS	Q13332	p.Val1621Met	rs1242977508	missense variant	-	NC_000019.10:g.5212159C>T	TOPMed
PTPRS	Q13332	p.Thr1622Met	rs775731386	missense variant	-	NC_000019.10:g.5212155G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1623Phe	rs745988489	missense variant	-	NC_000019.10:g.5212153G>A	ExAC,gnomAD
PTPRS	Q13332	p.Met1624Val	rs1169461157	missense variant	-	NC_000019.10:g.5212150T>C	gnomAD
PTPRS	Q13332	p.Arg1628His	rs1057017143	missense variant	-	NC_000019.10:g.5212137C>T	gnomAD
PTPRS	Q13332	p.Arg1628Cys	rs1377011238	missense variant	-	NC_000019.10:g.5212138G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Asn1629Ser	rs771478606	missense variant	-	NC_000019.10:g.5212134T>C	ExAC,gnomAD
PTPRS	Q13332	p.Met1631Val	rs1455190303	missense variant	-	NC_000019.10:g.5212129T>C	gnomAD
PTPRS	Q13332	p.Met1631Ile	rs1177597179	missense variant	-	NC_000019.10:g.5212127C>A	gnomAD
PTPRS	Q13332	p.Met1631Thr	rs1235868511	missense variant	-	NC_000019.10:g.5212128A>G	gnomAD
PTPRS	Q13332	p.Gln1633His	rs1337710974	missense variant	-	NC_000019.10:g.5212121C>G	TOPMed
PTPRS	Q13332	p.Thr1634Met	rs529643294	missense variant	-	NC_000019.10:g.5212119G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Asp1636Asn	rs140615054	missense variant	-	NC_000019.10:g.5212114C>T	ESP,TOPMed
PTPRS	Q13332	p.Gln1637His	rs1344826234	missense variant	-	NC_000019.10:g.5212109C>G	gnomAD
PTPRS	Q13332	p.Ser1639Arg	rs1237201712	missense variant	-	NC_000019.10:g.5212105T>G	gnomAD
PTPRS	Q13332	p.Ile1641Thr	rs752374333	missense variant	-	NC_000019.10:g.5212098A>G	ExAC,gnomAD
PTPRS	Q13332	p.His1642Tyr	rs781016820	missense variant	-	NC_000019.10:g.5212096G>A	ExAC,gnomAD
PTPRS	Q13332	p.Glu1643Lys	rs751085808	missense variant	-	NC_000019.10:g.5212093C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1644Gly	rs1330569020	missense variant	-	NC_000019.10:g.5212089G>C	gnomAD
PTPRS	Q13332	p.Leu1645Val	rs766170514	missense variant	-	NC_000019.10:g.5212087G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1649Met	rs139009302	missense variant	-	NC_000019.10:g.5212075C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Cys1651Ser	rs1054283170	missense variant	-	NC_000019.10:g.5212069A>T	TOPMed
PTPRS	Q13332	p.Gly1652Asp	rs1377889959	missense variant	-	NC_000019.10:g.5212065C>T	gnomAD
PTPRS	Q13332	p.Gly1652Ser	rs1401543136	missense variant	-	NC_000019.10:g.5212066C>T	TOPMed
PTPRS	Q13332	p.Asn1653Ser	rs772283107	missense variant	-	NC_000019.10:g.5212062T>C	ExAC,gnomAD
PTPRS	Q13332	p.Thr1654Pro	rs1234245419	missense variant	-	NC_000019.10:g.5212060T>G	TOPMed,gnomAD
PTPRS	Q13332	p.Glu1655Asp	rs1335402011	missense variant	-	NC_000019.10:g.5212055T>A	TOPMed
PTPRS	Q13332	p.Pro1657Ser	rs759473614	missense variant	-	NC_000019.10:g.5212051G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro1657His	rs1442178151	missense variant	-	NC_000019.10:g.5212050G>T	gnomAD
PTPRS	Q13332	p.Ala1658Thr	rs770983463	missense variant	-	NC_000019.10:g.5212048C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1659His	rs749770933	missense variant	-	NC_000019.10:g.5212044C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg1659Cys	rs1314953096	missense variant	-	NC_000019.10:g.5212045G>A	TOPMed
PTPRS	Q13332	p.Ser1660Asn	rs1224418622	missense variant	-	NC_000019.10:g.5212041C>T	gnomAD
PTPRS	Q13332	p.Tyr1662His	rs778472176	missense variant	-	NC_000019.10:g.5212036A>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1663Gly	rs575673773	missense variant	-	NC_000019.10:g.5212032G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1665Val	rs1313280271	missense variant	-	NC_000019.10:g.5212027T>C	gnomAD
PTPRS	Q13332	p.Leu1668Val	rs754672517	missense variant	-	NC_000019.10:g.5212018G>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1669Pro	rs751233189	missense variant	-	NC_000019.10:g.5212015C>G	ExAC,gnomAD
PTPRS	Q13332	p.Glu1672Asp	rs779614562	missense variant	-	NC_000019.10:g.5212004C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1673Thr	rs1219552696	missense variant	-	NC_000019.10:g.5212003G>T	gnomAD
PTPRS	Q13332	p.Pro1673Leu	rs750341467	missense variant	-	NC_000019.10:g.5212002G>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro1673Arg	rs750341467	missense variant	-	NC_000019.10:g.5212002G>C	ExAC,gnomAD
PTPRS	Q13332	p.Gly1674Cys	rs61729772	missense variant	-	NC_000019.10:g.5212000C>A	gnomAD
PTPRS	Q13332	p.Gly1674Asp	rs1418979460	missense variant	-	NC_000019.10:g.5211999C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Glu1675Lys	rs753640223	missense variant	-	NC_000019.10:g.5211997C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1675Asp	rs763848171	missense variant	-	NC_000019.10:g.5211995T>G	ExAC
PTPRS	Q13332	p.His1676Gln	rs150713717	missense variant	-	NC_000019.10:g.5211992G>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1677Leu	rs549449179	missense variant	-	NC_000019.10:g.5211991C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1677Ile	rs549449179	missense variant	-	NC_000019.10:g.5211991C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1679Ser	rs1287877012	missense variant	-	NC_000019.10:g.5211985C>T	gnomAD
PTPRS	Q13332	p.Met1680Ile	rs773816993	missense variant	-	NC_000019.10:g.5211980C>T	ExAC,gnomAD
PTPRS	Q13332	p.Glu1681Asp	rs770430764	missense variant	-	NC_000019.10:g.5211977T>A	ExAC,gnomAD
PTPRS	Q13332	p.Leu1682Arg	rs1234917505	missense variant	-	NC_000019.10:g.5211975A>C	gnomAD
PTPRS	Q13332	p.Leu1682Phe	rs1293606763	missense variant	-	NC_000019.10:g.5211976G>A	gnomAD
PTPRS	Q13332	p.Glu1683Lys	rs1269493731	missense variant	-	NC_000019.10:g.5211973C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1686Leu	rs370553812	missense variant	-	NC_000019.10:g.5211767C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1686Trp	rs544687640	missense variant	-	NC_000019.10:g.5211768G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1686Gln	rs370553812	missense variant	-	NC_000019.10:g.5211767C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1688Gly	rs764543329	missense variant	-	NC_000019.10:g.5211761G>C	ExAC,gnomAD
PTPRS	Q13332	p.Ala1688Thr	rs777149337	missense variant	-	NC_000019.10:g.5211762C>T	ExAC,gnomAD
PTPRS	Q13332	p.Lys1691Glu	rs575809662	missense variant	-	NC_000019.10:g.5211753T>C	1000Genomes,gnomAD
PTPRS	Q13332	p.His1693Asn	rs761038687	missense variant	-	NC_000019.10:g.5211747G>T	ExAC,gnomAD
PTPRS	Q13332	p.Thr1694Met	rs375049270	missense variant	-	NC_000019.10:g.5211743G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1696Leu	rs377152398	missense variant	-	NC_000019.10:g.5211737C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1696Cys	rs759153530	missense variant	-	NC_000019.10:g.5211738G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1696His	rs377152398	missense variant	-	NC_000019.10:g.5211737C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1698Val	rs748826407	missense variant	-	NC_000019.10:g.5211732T>C	ExAC
PTPRS	Q13332	p.Ile1698Thr	rs777698094	missense variant	-	NC_000019.10:g.5211731A>G	ExAC,gnomAD
PTPRS	Q13332	p.Ala1700Thr	rs1408970246	missense variant	-	NC_000019.10:g.5211726C>T	gnomAD
PTPRS	Q13332	p.Asn1701Ser	rs148218543	missense variant	-	NC_000019.10:g.5211722T>C	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Asn1701Ile	rs148218543	missense variant	-	NC_000019.10:g.5211722T>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Phe1707Leu	rs750656757	missense variant	-	NC_000019.10:g.5211703G>T	ExAC,gnomAD
PTPRS	Q13332	p.Phe1707Ser	rs1312546718	missense variant	-	NC_000019.10:g.5211704A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1710His	rs757375502	missense variant	-	NC_000019.10:g.5211695C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1710Cys	rs145108936	missense variant	-	NC_000019.10:g.5211696G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1710Leu	rs757375502	missense variant	-	NC_000019.10:g.5211695C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1712Met	rs764289589	missense variant	-	NC_000019.10:g.5211690C>T	ExAC,gnomAD
PTPRS	Q13332	p.Ile1714Phe	rs1317765172	missense variant	-	NC_000019.10:g.5211684T>A	TOPMed
PTPRS	Q13332	p.Met1715Val	rs753283232	missense variant	-	NC_000019.10:g.5211681T>C	ExAC,gnomAD
PTPRS	Q13332	p.Tyr1717Cys	rs1260485320	missense variant	-	NC_000019.10:g.5211674T>C	TOPMed
PTPRS	Q13332	p.Thr1720Ala	rs1377369040	missense variant	-	NC_000019.10:g.5211666T>C	gnomAD
PTPRS	Q13332	p.Arg1721Gln	rs759915847	missense variant	-	NC_000019.10:g.5211662C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1721Trp	rs1351895585	missense variant	-	NC_000019.10:g.5211663G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Val1722Ala	rs1415864299	missense variant	-	NC_000019.10:g.5211659A>G	gnomAD
PTPRS	Q13332	p.Cys1723Phe	rs773951274	missense variant	-	NC_000019.10:g.5211656C>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro1726Arg	rs770574044	missense variant	-	NC_000019.10:g.5211647G>C	ExAC,gnomAD
PTPRS	Q13332	p.Pro1726Leu	rs770574044	missense variant	-	NC_000019.10:g.5211647G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ile1727Thr	rs1161522719	missense variant	-	NC_000019.10:g.5211644A>G	gnomAD
PTPRS	Q13332	p.Arg1728Trp	rs199786391	missense variant	-	NC_000019.10:g.5211642G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1728Gln	rs369364998	missense variant	-	NC_000019.10:g.5211641C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1732Ser	rs748005458	missense variant	-	NC_000019.10:g.5211630C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1732Ala	rs781331763	missense variant	-	NC_000019.10:g.5211629C>G	ExAC,gnomAD
PTPRS	Q13332	p.Ser1733Cys	rs768527095	missense variant	-	NC_000019.10:g.5211626G>C	ExAC,gnomAD
PTPRS	Q13332	p.Ser1733Phe	rs768527095	missense variant	-	NC_000019.10:g.5211626G>A	ExAC,gnomAD
PTPRS	Q13332	p.Ile1736Leu	rs746834613	missense variant	-	NC_000019.10:g.5211618T>G	ExAC,gnomAD
PTPRS	Q13332	p.Ala1738Thr	rs1234272445	missense variant	-	NC_000019.10:g.5211612C>T	gnomAD
PTPRS	Q13332	p.Ile1741Thr	rs757537399	missense variant	-	NC_000019.10:g.5211602A>G	ExAC,gnomAD
PTPRS	Q13332	p.Arg1745Thr	rs1473708944	missense variant	-	NC_000019.10:g.5211590C>G	gnomAD
PTPRS	Q13332	p.Ala1749Ser	rs1329808872	missense variant	-	NC_000019.10:g.5210795C>A	TOPMed
PTPRS	Q13332	p.Ile1751Val	rs541912681	missense variant	-	NC_000019.10:g.5210789T>C	gnomAD
PTPRS	Q13332	p.Ala1752Thr	rs145869121	missense variant	-	NC_000019.10:g.5210786C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1752Ser	rs145869121	missense variant	-	NC_000019.10:g.5210786C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1752Val	rs758652323	missense variant	-	NC_000019.10:g.5210785G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1753Lys	rs764743065	missense variant	-	NC_000019.10:g.5210782G>T	ExAC
PTPRS	Q13332	p.Gln1754Pro	rs1049873225	missense variant	-	NC_000019.10:g.5210779T>G	TOPMed
PTPRS	Q13332	p.Pro1756Gln	rs762745270	missense variant	-	NC_000019.10:g.5210773G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Pro1756Ser	rs1205450779	missense variant	-	NC_000019.10:g.5210774G>A	TOPMed
PTPRS	Q13332	p.Pro1756Leu	rs762745270	missense variant	-	NC_000019.10:g.5210773G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ala1758Val	rs374377699	missense variant	-	NC_000019.10:g.5210767G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1759Asp	rs759194375	missense variant	-	NC_000019.10:g.5210763C>G	ExAC
PTPRS	Q13332	p.Glu1759Lys	rs767493286	missense variant	-	NC_000019.10:g.5210765C>T	ExAC,gnomAD
PTPRS	Q13332	p.Thr1760Ala	rs1176246574	missense variant	-	NC_000019.10:g.5210762T>C	TOPMed
PTPRS	Q13332	p.Thr1761Ala	rs774182734	missense variant	-	NC_000019.10:g.5210759T>C	ExAC,gnomAD
PTPRS	Q13332	p.Thr1761Met	rs770699501	missense variant	-	NC_000019.10:g.5210758G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1766Leu	rs768674983	missense variant	-	NC_000019.10:g.5210743C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1766His	rs768674983	missense variant	-	NC_000019.10:g.5210743C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1766Cys	rs1157608522	missense variant	-	NC_000019.10:g.5210744G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Met1767Ile	rs780361257	missense variant	-	NC_000019.10:g.5210739C>G	ExAC,gnomAD
PTPRS	Q13332	p.Met1767Val	rs747125571	missense variant	-	NC_000019.10:g.5210741T>C	ExAC,gnomAD
PTPRS	Q13332	p.Met1767Leu	rs747125571	missense variant	-	NC_000019.10:g.5210741T>G	ExAC,gnomAD
PTPRS	Q13332	p.Leu1768Val	rs746423364	missense variant	-	NC_000019.10:g.5210738G>C	ExAC,gnomAD
PTPRS	Q13332	p.Asn1771Asp	rs1258823766	missense variant	-	NC_000019.10:g.5210729T>C	gnomAD
PTPRS	Q13332	p.Ser1773Leu	rs779302415	missense variant	-	NC_000019.10:g.5210722G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1774Lys	rs753489907	missense variant	-	NC_000019.10:g.5210719G>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1774Met	rs753489907	missense variant	-	NC_000019.10:g.5210719G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1776Met	rs116345982	missense variant	-	NC_000019.10:g.5210714C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1777Leu	rs1231208863	missense variant	-	NC_000019.10:g.5210711C>A	gnomAD
PTPRS	Q13332	p.Lys1781Glu	rs751492887	missense variant	-	NC_000019.10:g.5210699T>C	ExAC,gnomAD
PTPRS	Q13332	p.Arg1783Trp	rs766174955	missense variant	-	NC_000019.10:g.5210693G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1783Gln	rs762760744	missense variant	-	NC_000019.10:g.5210692C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Glu1784Gly	rs1212842588	missense variant	-	NC_000019.10:g.5210689T>C	TOPMed
PTPRS	Q13332	p.Gly1786Asp	rs776795641	missense variant	-	NC_000019.10:g.5210683C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1786Val	rs776795641	missense variant	-	NC_000019.10:g.5210683C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Cys1790Ser	rs1169061301	missense variant	-	NC_000019.10:g.5210587C>G	TOPMed,gnomAD
PTPRS	Q13332	p.His1791Leu	rs1476413127	missense variant	-	NC_000019.10:g.5210584T>A	gnomAD
PTPRS	Q13332	p.His1791Gln	rs151050830	missense variant	-	NC_000019.10:g.5210583G>T	ESP,ExAC,gnomAD
PTPRS	Q13332	p.Tyr1793Phe	rs775620030	missense variant	-	NC_000019.10:g.5210578T>A	ExAC,gnomAD
PTPRS	Q13332	p.Pro1795Leu	rs1253335014	missense variant	-	NC_000019.10:g.5210572G>A	gnomAD
PTPRS	Q13332	p.Glu1797Lys	rs1420539666	missense variant	-	NC_000019.10:g.5210567C>T	TOPMed
PTPRS	Q13332	p.Arg1798His	rs771577284	missense variant	-	NC_000019.10:g.5210563C>T	ExAC,gnomAD
PTPRS	Q13332	p.Arg1798Cys	rs1477121983	missense variant	-	NC_000019.10:g.5210564G>A	TOPMed
PTPRS	Q13332	p.Arg1798Pro	rs771577284	missense variant	-	NC_000019.10:g.5210563C>G	ExAC,gnomAD
PTPRS	Q13332	p.Ser1799Phe	rs749866143	missense variant	-	NC_000019.10:g.5210560G>A	ExAC,gnomAD
PTPRS	Q13332	p.Arg1801Cys	rs773706905	missense variant	-	NC_000019.10:g.5210555G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1801His	rs770322238	missense variant	-	NC_000019.10:g.5210554C>T	ExAC,gnomAD
PTPRS	Q13332	p.Val1806Ala	rs780731358	missense variant	-	NC_000019.10:g.5210539A>G	ExAC,gnomAD
PTPRS	Q13332	p.Asp1808Glu	rs995063565	missense variant	-	NC_000019.10:g.5210532A>C	TOPMed,gnomAD
PTPRS	Q13332	p.Pro1809Leu	rs1440460687	missense variant	-	NC_000019.10:g.5210530G>A	gnomAD
PTPRS	Q13332	p.Ala1811Gly	rs144421593	missense variant	-	NC_000019.10:g.5210524G>C	ESP
PTPRS	Q13332	p.Glu1812Lys	rs779912281	missense variant	-	NC_000019.10:g.5210522C>T	ExAC,gnomAD
PTPRS	Q13332	p.Met1815Val	rs1432193218	missense variant	-	NC_000019.10:g.5210513T>C	gnomAD
PTPRS	Q13332	p.Pro1816Ser	rs1357194928	missense variant	-	NC_000019.10:g.5210510G>A	TOPMed
PTPRS	Q13332	p.Gln1817His	rs1181690388	missense variant	-	NC_000019.10:g.5210505C>A	TOPMed,gnomAD
PTPRS	Q13332	p.Ile1819Thr	rs529235837	missense variant	-	NC_000019.10:g.5210500A>G	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Leu1820Val	rs750429839	missense variant	-	NC_000019.10:g.5210498G>C	ExAC,gnomAD
PTPRS	Q13332	p.Arg1821Gln	rs764990671	missense variant	-	NC_000019.10:g.5210494C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1829Gln	rs747402108	missense variant	-	NC_000019.10:g.5210470C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1829Trp	rs147647579	missense variant	-	NC_000019.10:g.5210471G>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1834Trp	rs1269269717	missense variant	-	NC_000019.10:g.5208379G>A	TOPMed
PTPRS	Q13332	p.Arg1834Gln	rs771526918	missense variant	-	NC_000019.10:g.5208378C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1836Leu	rs745383561	missense variant	-	NC_000019.10:g.5208373C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1836Asp	rs1412649581	missense variant	-	NC_000019.10:g.5208372A>T	TOPMed
PTPRS	Q13332	p.Arg1837Trp	rs1161731225	missense variant	-	NC_000019.10:g.5208370G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1837Gln	rs368767528	missense variant	-	NC_000019.10:g.5208369C>T	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1837Leu	rs368767528	missense variant	-	NC_000019.10:g.5208369C>A	ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gln1838Lys	rs1415456533	missense variant	-	NC_000019.10:g.5208367G>T	gnomAD
PTPRS	Q13332	p.Gln1840Arg	rs1164066275	missense variant	-	NC_000019.10:g.5208360T>C	gnomAD
PTPRS	Q13332	p.Pro1845Leu	rs1257575436	missense variant	-	NC_000019.10:g.5208345G>A	gnomAD
PTPRS	Q13332	p.Gln1847Ter	rs777398236	stop gained	-	NC_000019.10:g.5208340G>A	ExAC,gnomAD
PTPRS	Q13332	p.Gly1848Ser	rs903504424	missense variant	-	NC_000019.10:g.5208337C>T	TOPMed,gnomAD
PTPRS	Q13332	p.Gly1848Ala	rs755986568	missense variant	-	NC_000019.10:g.5208336C>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1849Met	rs560052043	missense variant	-	NC_000019.10:g.5208334C>T	1000Genomes,ExAC,gnomAD
PTPRS	Q13332	p.Ser1852Leu	rs148478353	missense variant	-	NC_000019.10:g.5208324G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1855Asp	rs1483689636	missense variant	-	NC_000019.10:g.5208315C>T	gnomAD
PTPRS	Q13332	p.Ile1860Ser	rs941491568	missense variant	-	NC_000019.10:g.5208300A>C	TOPMed,gnomAD
PTPRS	Q13332	p.Ile1860Thr	rs941491568	missense variant	-	NC_000019.10:g.5208300A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Gly1861Val	rs1224142038	missense variant	-	NC_000019.10:g.5208297C>A	TOPMed
PTPRS	Q13332	p.Gln1862His	rs1213233007	missense variant	-	NC_000019.10:g.5208293T>G	TOPMed,gnomAD
PTPRS	Q13332	p.Val1878Gly	rs761054434	missense variant	-	NC_000019.10:g.5208246A>C	ExAC,gnomAD
PTPRS	Q13332	p.His1879Gln	rs1458294662	missense variant	-	NC_000019.10:g.5208242G>C	gnomAD
PTPRS	Q13332	p.Ser1881Asn	rs1275741790	missense variant	-	NC_000019.10:g.5208237C>T	gnomAD
PTPRS	Q13332	p.Gly1883Ser	rs753044393	missense variant	-	NC_000019.10:g.5208053C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1884Met	rs759155627	missense variant	-	NC_000019.10:g.5208050C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Gly1885Ser	rs139519201	missense variant	-	NC_000019.10:g.5208047C>T	ESP
PTPRS	Q13332	p.Thr1887Ala	rs145958658	missense variant	-	NC_000019.10:g.5208041T>C	ESP,TOPMed
PTPRS	Q13332	p.Thr1887Met	rs1477222866	missense variant	-	NC_000019.10:g.5208040G>A	TOPMed
PTPRS	Q13332	p.Gly1888Asp	rs1208800813	missense variant	-	NC_000019.10:g.5208037C>T	gnomAD
PTPRS	Q13332	p.Val1889Ile	rs142977438	missense variant	-	NC_000019.10:g.5208035C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ile1891Thr	rs1235729013	missense variant	-	NC_000019.10:g.5208028A>G	gnomAD
PTPRS	Q13332	p.Thr1892Met	rs772956659	missense variant	-	NC_000019.10:g.5208025G>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Leu1893His	rs748156971	missense variant	-	NC_000019.10:g.5208022A>T	ExAC,gnomAD
PTPRS	Q13332	p.Ile1895Phe	rs942270803	missense variant	-	NC_000019.10:g.5208017T>A	TOPMed
PTPRS	Q13332	p.Ile1895Val	rs942270803	missense variant	-	NC_000019.10:g.5208017T>C	TOPMed
PTPRS	Q13332	p.Val1896Met	rs768615091	missense variant	-	NC_000019.10:g.5208014C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1899Trp	rs1042776388	missense variant	-	NC_000019.10:g.5208005G>A	TOPMed
PTPRS	Q13332	p.Arg1899Gln	rs752031088	missense variant	-	NC_000019.10:g.5208004C>T	gnomAD
PTPRS	Q13332	p.Met1900Lys	rs1172748468	missense variant	-	NC_000019.10:g.5208001A>T	TOPMed,gnomAD
PTPRS	Q13332	p.Met1900Thr	rs1172748468	missense variant	-	NC_000019.10:g.5208001A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Arg1901Gln	rs746059446	missense variant	-	NC_000019.10:g.5207998C>T	ExAC,gnomAD
PTPRS	Q13332	p.Val1905Leu	rs757213585	missense variant	-	NC_000019.10:g.5207987C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1905Met	rs757213585	missense variant	-	NC_000019.10:g.5207987C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Val1906Ala	rs1254586251	missense variant	-	NC_000019.10:g.5207983A>G	gnomAD
PTPRS	Q13332	p.Asp1907Gly	rs749395911	missense variant	-	NC_000019.10:g.5207980T>C	ExAC,gnomAD
PTPRS	Q13332	p.Asp1907His	rs1186474095	missense variant	-	NC_000019.10:g.5207981C>G	gnomAD
PTPRS	Q13332	p.Phe1909Leu	rs1203036687	missense variant	-	NC_000019.10:g.5207975A>G	TOPMed,gnomAD
PTPRS	Q13332	p.Thr1911Met	rs115470613	missense variant	-	NC_000019.10:g.5207968G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1911Lys	rs115470613	missense variant	-	NC_000019.10:g.5207968G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1914Ile	rs755356872	missense variant	-	NC_000019.10:g.5207958C>T	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1914Ile	rs755356872	missense variant	-	NC_000019.10:g.5207958C>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1914Thr	rs767844549	missense variant	-	NC_000019.10:g.5207959A>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Arg1919Trp	rs1290109580	missense variant	-	NC_000019.10:g.5207945G>A	gnomAD
PTPRS	Q13332	p.Arg1919Gln	rs1412878073	missense variant	-	NC_000019.10:g.5207944C>T	gnomAD
PTPRS	Q13332	p.Pro1920Leu	rs968335743	missense variant	-	NC_000019.10:g.5207941G>A	gnomAD
PTPRS	Q13332	p.Met1922Thr	rs1382306771	missense variant	-	NC_000019.10:g.5207935A>G	gnomAD
PTPRS	Q13332	p.Met1922Val	rs762312580	missense variant	-	NC_000019.10:g.5207936T>C	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1922Leu	rs762312580	missense variant	-	NC_000019.10:g.5207936T>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Met1922Ile	rs1157702828	missense variant	-	NC_000019.10:g.5207934C>A	gnomAD
PTPRS	Q13332	p.Val1923Leu	rs1472934646	missense variant	-	NC_000019.10:g.5207933C>A	TOPMed
PTPRS	Q13332	p.Thr1925Lys	rs1414682876	missense variant	-	NC_000019.10:g.5207926G>T	TOPMed,gnomAD
PTPRS	Q13332	p.Thr1925Ile	rs1414682876	missense variant	-	NC_000019.10:g.5207926G>A	TOPMed,gnomAD
PTPRS	Q13332	p.Asp1927His	rs1230180081	missense variant	-	NC_000019.10:g.5206842C>G	TOPMed
PTPRS	Q13332	p.Gln1930His	rs199713079	missense variant	-	NC_000019.10:g.5206831C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Cys1932Ser	rs747508872	missense variant	-	NC_000019.10:g.5206826C>G	ExAC,gnomAD
PTPRS	Q13332	p.Tyr1933His	rs1350885501	missense variant	-	NC_000019.10:g.5206824A>G	gnomAD
PTPRS	Q13332	p.Ala1935Val	rs1326058191	missense variant	-	NC_000019.10:g.5206817G>A	gnomAD
PTPRS	Q13332	p.Glu1938Gly	rs1265207217	missense variant	-	NC_000019.10:g.5206808T>C	TOPMed
PTPRS	Q13332	p.Glu1938Lys	rs750035643	missense variant	-	NC_000019.10:g.5206809C>T	ExAC,gnomAD
PTPRS	Q13332	p.Gly1941Arg	rs200187372	missense variant	-	NC_000019.10:g.5206800C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Ser1942Thr	rs1203152786	missense variant	-	NC_000019.10:g.5206796C>G	TOPMed
PTPRS	Q13332	p.Thr1948Ser	rs750760376	missense variant	-	NC_000019.10:g.5206779T>A	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1948Pro	rs750760376	missense variant	-	NC_000019.10:g.5206779T>G	ExAC,TOPMed,gnomAD
PTPRS	Q13332	p.Thr1948Ala	rs750760376	missense variant	-	NC_000019.10:g.5206779T>C	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Asn3Asp	rs774342820	missense variant	-	NC_000018.10:g.51047053A>G	ExAC,gnomAD
SMAD4	Q13485	p.Met4ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51047054_51047055AT>-	NCI-TCGA
SMAD4	Q13485	p.Ile6Val	rs1376500870	missense variant	-	NC_000018.10:g.51047062A>G	gnomAD
SMAD4	Q13485	p.Thr7Met	rs372316981	missense variant	-	NC_000018.10:g.51047066C>T	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Thr11Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51047078C>A	NCI-TCGA
SMAD4	Q13485	p.Ser12Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51047080A>C	NCI-TCGA
SMAD4	Q13485	p.Ser12Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51047081G>A	NCI-TCGA
SMAD4	Q13485	p.Asn13Ser	rs281875323	missense variant	-	NC_000018.10:g.51047084A>G	ExAC,gnomAD
SMAD4	Q13485	p.Asn13Ser	rs281875323	missense variant	-	NC_000018.10:g.51047084A>G	UniProt,dbSNP
SMAD4	Q13485	p.Asn13Ser	VAR_066870	missense variant	-	NC_000018.10:g.51047084A>G	UniProt
SMAD4	Q13485	p.His21Arg	rs1280706054	missense variant	-	NC_000018.10:g.51047108A>G	gnomAD
SMAD4	Q13485	p.Met24Val	rs876659391	missense variant	-	NC_000018.10:g.51047116A>G	gnomAD
SMAD4	Q13485	p.Cys25Tyr	COSM30786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51047120G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ser32Ter	COSM294838	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51047135_51047136GA>-	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ser32Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51047141G>C	NCI-TCGA
SMAD4	Q13485	p.Ala39Thr	rs758408642	missense variant	-	NC_000018.10:g.51047161G>A	ExAC,gnomAD
SMAD4	Q13485	p.Val44Ile	rs746732669	missense variant	-	NC_000018.10:g.51047176G>A	ExAC,gnomAD
SMAD4	Q13485	p.Lys46Arg	rs1392175055	missense variant	-	NC_000018.10:g.51047183A>G	gnomAD
SMAD4	Q13485	p.Leu47Val	rs770789755	missense variant	-	NC_000018.10:g.51047185C>G	ExAC,gnomAD
SMAD4	Q13485	p.Leu47Gln	COSM3422224	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51047186T>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Glu49Gly	rs780090544	missense variant	-	NC_000018.10:g.51047192A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Asp52ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51047193_51047194insA	NCI-TCGA
SMAD4	Q13485	p.Ser56Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51047213C>A	NCI-TCGA
SMAD4	Q13485	p.Leu57Val	COSM169637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51047215T>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ala60Pro	COSM4072502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51047224G>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ile61Val	rs1064794204	missense variant	-	NC_000018.10:g.51047227A>G	gnomAD
SMAD4	Q13485	p.Ile61Leu	rs1064794204	missense variant	-	NC_000018.10:g.51047227A>C	gnomAD
SMAD4	Q13485	p.Thr62Ile	rs1316987372	missense variant	-	NC_000018.10:g.51047231C>T	TOPMed
SMAD4	Q13485	p.Gly65Glu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51047240G>A	NCI-TCGA
SMAD4	Q13485	p.Lys70Thr	COSM988903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51047255A>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ile74Val	rs772506979	missense variant	-	NC_000018.10:g.51047266A>G	ExAC,gnomAD
SMAD4	Q13485	p.Leu78Phe	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51047280G>T	NCI-TCGA
SMAD4	Q13485	p.Gly80Arg	rs1382032973	missense variant	-	NC_000018.10:g.51047284G>A	TOPMed
SMAD4	Q13485	p.Gly86Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048692G>T	NCI-TCGA
SMAD4	Q13485	p.Arg87Pro	rs1060500735	missense variant	-	NC_000018.10:g.51048696G>C	gnomAD
SMAD4	Q13485	p.Arg87Gln	rs1060500735	missense variant	-	NC_000018.10:g.51048696G>A	gnomAD
SMAD4	Q13485	p.Gly89Ter	COSM1389027	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51048701G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Pro91Ser	COSM3526297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048707C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.His92Tyr	COSM4830946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048710C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Tyr95Phe	rs1460631652	missense variant	-	NC_000018.10:g.51048720A>T	gnomAD
SMAD4	Q13485	p.Tyr95Cys	COSM5256678	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048720A>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ala96Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048723C>T	NCI-TCGA
SMAD4	Q13485	p.Ala96Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048723C>A	NCI-TCGA
SMAD4	Q13485	p.Arg97Cys	rs1555685158	missense variant	-	NC_000018.10:g.51048725C>T	-
SMAD4	Q13485	p.Arg97His	COSM291721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048726G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Arg97ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51048723C>-	NCI-TCGA
SMAD4	Q13485	p.Trp99Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048733G>C	NCI-TCGA
SMAD4	Q13485	p.Arg100Trp	COSM6149421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048734A>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Arg100Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048736G>T	NCI-TCGA
SMAD4	Q13485	p.Leu104Phe	COSM265463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048746C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Leu109Arg	COSM1480368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048762T>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Leu109Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048762T>A	NCI-TCGA
SMAD4	Q13485	p.Lys110AsnPheSerTerUnkUnk	COSM5951342	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51048763A>-	NCI-TCGA Cosmic
SMAD4	Q13485	p.His111Pro	rs1064794363	missense variant	-	NC_000018.10:g.51048768A>C	TOPMed,gnomAD
SMAD4	Q13485	p.Cys115Tyr	rs876659844	missense variant	-	NC_000018.10:g.51048780G>A	-
SMAD4	Q13485	p.Gln116Arg	rs1291259529	missense variant	-	NC_000018.10:g.51048783A>G	gnomAD
SMAD4	Q13485	p.Gln116Ter	COSM84440	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51048782C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Tyr117His	COSM1389032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048785T>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ala118Val	COSM14215	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048789C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Cys123Tyr	rs1357104939	missense variant	-	NC_000018.10:g.51048804G>A	TOPMed
SMAD4	Q13485	p.Asp124Ala	rs750172880	missense variant	-	NC_000018.10:g.51048807A>C	ExAC,gnomAD
SMAD4	Q13485	p.Val128Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048819T>C	NCI-TCGA
SMAD4	Q13485	p.Pro130Ser	rs1555685186	missense variant	-	NC_000018.10:g.51048824C>T	UniProt,dbSNP
SMAD4	Q13485	p.Pro130Ser	VAR_036475	missense variant	-	NC_000018.10:g.51048824C>T	UniProt
SMAD4	Q13485	p.Pro130Ser	rs1555685186	missense variant	-	NC_000018.10:g.51048824C>T	-
SMAD4	Q13485	p.His132Tyr	rs1060500743	missense variant	-	NC_000018.10:g.51048830C>T	-
SMAD4	Q13485	p.His132Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048832C>A	NCI-TCGA
SMAD4	Q13485	p.Tyr133Asn	COSM1303772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048833T>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Glu134Gln	rs748395067	missense variant	-	NC_000018.10:g.51048836G>C	ExAC,gnomAD
SMAD4	Q13485	p.Glu134Lys	COSM189730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51048836G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Arg135Ter	rs377767326	stop gained	-	NC_000018.10:g.51048839C>T	-
SMAD4	Q13485	p.Val136Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048843T>C	NCI-TCGA
SMAD4	Q13485	p.Val137Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51048846T>C	NCI-TCGA
SMAD4	Q13485	p.Ser138IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51048845_51048846insT	NCI-TCGA
SMAD4	Q13485	p.Pro139Thr	rs1474668300	missense variant	-	NC_000018.10:g.51048851C>A	gnomAD
SMAD4	Q13485	p.Ser144Ter	COSM13115	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51049301C>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ser150Asn	rs750355699	missense variant	-	NC_000018.10:g.51049319G>A	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro153Ser	rs751763157	missense variant	-	NC_000018.10:g.51054783C>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser154ThrProSer	NCI-TCGA novel	insertion	-	NC_000018.10:g.51049324_51049325insCTCCATCAA	NCI-TCGA
SMAD4	Q13485	p.Ser155Thr	rs199790852	missense variant	-	NC_000018.10:g.51054790G>C	1000Genomes,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser155Gly	rs1057519259	missense variant	-	NC_000018.10:g.51054789A>G	gnomAD
SMAD4	Q13485	p.Ser155Asn	rs199790852	missense variant	-	NC_000018.10:g.51054790G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Met156Leu	rs534355764	missense variant	-	NC_000018.10:g.51054792A>T	1000Genomes,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Met157Leu	rs1443471590	missense variant	-	NC_000018.10:g.51054795A>T	TOPMed
SMAD4	Q13485	p.Met157Thr	rs756675590	missense variant	-	NC_000018.10:g.51054796T>C	ExAC,gnomAD
SMAD4	Q13485	p.Met157Ile	rs780716382	missense variant	-	NC_000018.10:g.51054797G>A	ExAC,gnomAD
SMAD4	Q13485	p.Glu161Lys	rs1183671082	missense variant	-	NC_000018.10:g.51054807G>A	gnomAD
SMAD4	Q13485	p.His164Arg	rs876660058	missense variant	-	NC_000018.10:g.51054817A>G	gnomAD
SMAD4	Q13485	p.Glu167Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51054825G>C	NCI-TCGA
SMAD4	Q13485	p.Gly168Ter	COSM14118	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51054828G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gln169Glu	rs1449334786	missense variant	-	NC_000018.10:g.51054831C>G	gnomAD
SMAD4	Q13485	p.Thr174Ala	rs1333974956	missense variant	-	NC_000018.10:g.51054846A>G	gnomAD
SMAD4	Q13485	p.Thr174Asn	rs138800446	missense variant	-	NC_000018.10:g.51054847C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser178Ter	rs377767331	stop gained	-	NC_000018.10:g.51054859C>G	-
SMAD4	Q13485	p.Ser178Ter	COSM1226725	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51054859C>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ile179Val	rs542392980	missense variant	-	NC_000018.10:g.51054861A>G	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Ile179Phe	rs542392980	missense variant	-	NC_000018.10:g.51054861A>T	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Gln180Ter	rs377767332	stop gained	-	NC_000018.10:g.51054864C>T	-
SMAD4	Q13485	p.Ile182Met	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51054872C>G	NCI-TCGA
SMAD4	Q13485	p.Gln183Ter	COSM308153	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51054873C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.His184Pro	rs760236686	missense variant	-	NC_000018.10:g.51054877A>C	ExAC,gnomAD
SMAD4	Q13485	p.Pro185Leu	rs770798845	missense variant	-	NC_000018.10:g.51054880C>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro185Gln	rs770798845	missense variant	-	NC_000018.10:g.51054880C>A	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189Ser	rs140743238	missense variant	-	NC_000018.10:g.51054891C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189Gly	rs140743238	missense variant	-	NC_000018.10:g.51054891C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189Leu	rs759288477	missense variant	-	NC_000018.10:g.51054892G>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189His	rs759288477	missense variant	-	NC_000018.10:g.51054892G>A	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189Cys	rs140743238	missense variant	-	NC_000018.10:g.51054891C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser191Leu	rs752575871	missense variant	-	NC_000018.10:g.51054898C>T	ExAC,gnomAD
SMAD4	Q13485	p.Thr192Ile	rs587780792	missense variant	-	NC_000018.10:g.51054901C>T	ExAC,gnomAD
SMAD4	Q13485	p.Thr194Ala	rs1432058632	missense variant	-	NC_000018.10:g.51054906A>G	TOPMed
SMAD4	Q13485	p.Tyr195Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51054911C>G	NCI-TCGA
SMAD4	Q13485	p.Pro198Leu	rs1189715258	missense variant	-	NC_000018.10:g.51054919C>T	gnomAD
SMAD4	Q13485	p.Pro198Arg	rs1189715258	missense variant	-	NC_000018.10:g.51054919C>G	gnomAD
SMAD4	Q13485	p.Ala199SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51054915_51054916insC	NCI-TCGA
SMAD4	Q13485	p.Leu200Val	rs1477349147	missense variant	-	NC_000018.10:g.51054924C>G	gnomAD
SMAD4	Q13485	p.Pro203Thr	rs199809905	missense variant	-	NC_000018.10:g.51054933C>A	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Pro203Ala	rs199809905	missense variant	-	NC_000018.10:g.51054933C>G	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Pro203Leu	rs779119136	missense variant	-	NC_000018.10:g.51054934C>T	ExAC,gnomAD
SMAD4	Q13485	p.Pro203Ser	rs199809905	missense variant	-	NC_000018.10:g.51054933C>T	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Ser204Tyr	COSM709388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51054937C>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Glu205Ala	rs748615724	missense variant	-	NC_000018.10:g.51054940A>C	ExAC,gnomAD
SMAD4	Q13485	p.Ala208Thr	rs1046411210	missense variant	-	NC_000018.10:g.51054948G>A	TOPMed
SMAD4	Q13485	p.Asn213Ser	rs757977781	missense variant	-	NC_000018.10:g.51054964A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Asn213ThrPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51054963_51054964insCCACATAAGGGAACATTTTGACACAAGTTCTAAAACTTACAGT	NCI-TCGA
SMAD4	Q13485	p.Pro215Arg	rs777495692	missense variant	-	NC_000018.10:g.51054970C>G	ExAC,gnomAD
SMAD4	Q13485	p.Pro215Ser	rs1064793270	missense variant	-	NC_000018.10:g.51054969C>T	-
SMAD4	Q13485	p.Asn216Ser	rs138386557	missense variant	-	NC_000018.10:g.51054973A>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro218Thr	rs1345146274	missense variant	-	NC_000018.10:g.51054978C>A	TOPMed,gnomAD
SMAD4	Q13485	p.Val219Met	rs1368696589	missense variant	-	NC_000018.10:g.51054981G>A	gnomAD
SMAD4	Q13485	p.Thr222Ala	rs770461626	missense variant	-	NC_000018.10:g.51054990A>G	ExAC,gnomAD
SMAD4	Q13485	p.Ser223Ile	rs774334251	missense variant	-	NC_000018.10:g.51058125G>T	ExAC,gnomAD
SMAD4	Q13485	p.Ser223Asn	rs774334251	missense variant	-	NC_000018.10:g.51058125G>A	ExAC,gnomAD
SMAD4	Q13485	p.Gln224Leu	rs587780793	missense variant	-	NC_000018.10:g.51058128A>T	TOPMed,gnomAD
SMAD4	Q13485	p.Ala226Val	rs539739051	missense variant	-	NC_000018.10:g.51058134C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser227Gly	rs1443767329	missense variant	-	NC_000018.10:g.51058136A>G	TOPMed
SMAD4	Q13485	p.Ser227ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51058134C>-	NCI-TCGA
SMAD4	Q13485	p.Ile228Val	rs1280682459	missense variant	-	NC_000018.10:g.51058139A>G	TOPMed
SMAD4	Q13485	p.Leu229Arg	rs75667697	missense variant	-	NC_000018.10:g.51058143T>G	ExAC,gnomAD
SMAD4	Q13485	p.Gly231Ala	rs759679579	missense variant	-	NC_000018.10:g.51058149G>C	ExAC,gnomAD
SMAD4	Q13485	p.Gly231AlaPheSerTerUnkUnk	COSM1389042	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51058144G>-	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ser232GlnPheSerTerUnk	COSM1389041	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51058143_51058144insG	NCI-TCGA Cosmic
SMAD4	Q13485	p.His233Asn	rs552880257	missense variant	-	NC_000018.10:g.51058154C>A	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Ser234Gly	rs758642067	missense variant	-	NC_000018.10:g.51058157A>G	ExAC,gnomAD
SMAD4	Q13485	p.Ser234Arg	rs758642067	missense variant	-	NC_000018.10:g.51058157A>C	ExAC,gnomAD
SMAD4	Q13485	p.Gln239Glu	rs1163381283	missense variant	-	NC_000018.10:g.51058172C>G	gnomAD
SMAD4	Q13485	p.Ser242Ter	COSM563754	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51058182C>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Pro244His	rs764421512	missense variant	-	NC_000018.10:g.51058188C>A	ExAC,gnomAD
SMAD4	Q13485	p.Gln245Ter	COSM14057	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51058190C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Pro246Thr	rs876659967	missense variant	-	NC_000018.10:g.51058193C>A	gnomAD
SMAD4	Q13485	p.Gln248Leu	rs751985298	missense variant	-	NC_000018.10:g.51058200A>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Gln248Ter	COSM218558	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51058199C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gln249Glu	rs1370953444	missense variant	-	NC_000018.10:g.51058202C>G	gnomAD
SMAD4	Q13485	p.Gln249Arg	rs371536364	missense variant	-	NC_000018.10:g.51058203A>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Gln249Lys	rs1370953444	missense variant	-	NC_000018.10:g.51058202C>A	gnomAD
SMAD4	Q13485	p.Gln249Pro	rs371536364	missense variant	-	NC_000018.10:g.51058203A>C	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Gln249His	rs372095620	missense variant	-	NC_000018.10:g.51058204G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Gln250Glu	rs1372278030	missense variant	-	NC_000018.10:g.51058205C>G	TOPMed
SMAD4	Q13485	p.Gly252Val	rs878854768	missense variant	-	NC_000018.10:g.51058212G>T	gnomAD
SMAD4	Q13485	p.Phe253Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51058214T>A	NCI-TCGA
SMAD4	Q13485	p.Thr254Ala	rs1284924848	missense variant	-	NC_000018.10:g.51058217A>G	gnomAD
SMAD4	Q13485	p.Gly270Glu	rs143082783	missense variant	-	NC_000018.10:g.51058361G>A	ESP
SMAD4	Q13485	p.Gly270GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51058360G>-	NCI-TCGA
SMAD4	Q13485	p.Ser271Asn	rs1343555503	missense variant	-	NC_000018.10:g.51058364G>A	TOPMed,gnomAD
SMAD4	Q13485	p.Thr273Ser	rs1282145977	missense variant	-	NC_000018.10:g.51058370C>G	TOPMed
SMAD4	Q13485	p.Ala274Thr	rs751860447	missense variant	-	NC_000018.10:g.51058372G>A	ExAC,gnomAD
SMAD4	Q13485	p.Pro275Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51058375C>A	NCI-TCGA
SMAD4	Q13485	p.Tyr276Phe	rs1229812463	missense variant	-	NC_000018.10:g.51058379A>T	TOPMed
SMAD4	Q13485	p.Pro278Thr	rs1257577085	missense variant	-	NC_000018.10:g.51058384C>A	gnomAD
SMAD4	Q13485	p.Asn285ThrPheSerTerUnkUnk	COSM5079016	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51058403A>-	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gly286Ser	rs750111831	missense variant	-	NC_000018.10:g.51058408G>A	ExAC,gnomAD
SMAD4	Q13485	p.Gln289Arg	rs1451329701	missense variant	-	NC_000018.10:g.51058418A>G	gnomAD
SMAD4	Q13485	p.Gln289Ter	COSM709387	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51058417C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.His290Pro	rs755770046	missense variant	-	NC_000018.10:g.51058421A>C	ExAC
SMAD4	Q13485	p.His291Tyr	rs863224733	missense variant	-	NC_000018.10:g.51058423C>T	TOPMed
SMAD4	Q13485	p.His291Pro	rs779583608	missense variant	-	NC_000018.10:g.51058424A>C	ExAC,gnomAD
SMAD4	Q13485	p.Pro292Leu	rs786201404	missense variant	-	NC_000018.10:g.51058427C>T	TOPMed,gnomAD
SMAD4	Q13485	p.Met294Val	rs7238500	missense variant	-	NC_000018.10:g.51058432A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro295Gln	rs370176106	missense variant	-	NC_000018.10:g.51058436C>A	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro295Arg	rs370176106	missense variant	-	NC_000018.10:g.51058436C>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro295Leu	rs370176106	missense variant	-	NC_000018.10:g.51058436C>T	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro295Ala	rs1167543544	missense variant	-	NC_000018.10:g.51058435C>G	TOPMed
SMAD4	Q13485	p.Pro296Leu	rs1417632301	missense variant	-	NC_000018.10:g.51058439C>T	TOPMed
SMAD4	Q13485	p.Pro298Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51058444C>T	NCI-TCGA
SMAD4	Q13485	p.Gly299Arg	rs1330888967	missense variant	-	NC_000018.10:g.51058447G>A	gnomAD
SMAD4	Q13485	p.His300Asp	rs963931106	missense variant	-	NC_000018.10:g.51058450C>G	TOPMed
SMAD4	Q13485	p.Tyr301Ter	rs746084369	stop gained	-	NC_000018.10:g.51058455C>G	ExAC,gnomAD
SMAD4	Q13485	p.Trp302Ter	rs878854769	stop gained	-	NC_000018.10:g.51059867G>A	-
SMAD4	Q13485	p.Val304Ile	rs375185293	missense variant	-	NC_000018.10:g.51059871G>A	ESP,ExAC,gnomAD
SMAD4	Q13485	p.Asn306Ser	rs730881953	missense variant	-	NC_000018.10:g.51059878A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Leu308Ile	rs1383128743	missense variant	-	NC_000018.10:g.51059883C>A	gnomAD
SMAD4	Q13485	p.Ala309Ser	rs774463256	missense variant	-	NC_000018.10:g.51059886G>T	ExAC,gnomAD
SMAD4	Q13485	p.Ala309Pro	rs774463256	missense variant	-	NC_000018.10:g.51059886G>C	ExAC,gnomAD
SMAD4	Q13485	p.Ala309SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51059886_51059892GCATTCC>-	NCI-TCGA
SMAD4	Q13485	p.Phe310Leu	COSM1324558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51059889T>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gln311Arg	rs1381679797	missense variant	-	NC_000018.10:g.51059893A>G	gnomAD
SMAD4	Q13485	p.Ile314Val	rs748622028	missense variant	-	NC_000018.10:g.51059901A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Asn316Ser	rs377119288	missense variant	-	NC_000018.10:g.51059908A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Asn316IlePheSerTerUnkUnk	COSM438195	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51059905C>-	NCI-TCGA Cosmic
SMAD4	Q13485	p.Trp323Cys	rs772575670	missense variant	-	NC_000018.10:g.51065436G>C	ExAC
SMAD4	Q13485	p.Ser325TyrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51065441_51065442CC>-	NCI-TCGA
SMAD4	Q13485	p.Ile326Val	rs1402203611	missense variant	-	NC_000018.10:g.51065443A>G	TOPMed
SMAD4	Q13485	p.Ala327Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51065447C>T	NCI-TCGA
SMAD4	Q13485	p.Phe329Leu	rs572960016	missense variant	-	NC_000018.10:g.51065454T>G	1000Genomes
SMAD4	Q13485	p.Glu330Gly	rs281875324	missense variant	Juvenile polyposis syndrome (JPS)	NC_000018.10:g.51065456A>G	UniProt,dbSNP
SMAD4	Q13485	p.Glu330Gly	VAR_022833	missense variant	Juvenile polyposis syndrome (JPS)	NC_000018.10:g.51065456A>G	UniProt
SMAD4	Q13485	p.Glu330Gly	rs281875324	missense variant	-	NC_000018.10:g.51065456A>G	-
SMAD4	Q13485	p.Glu330Lys	rs377767342	missense variant	-	NC_000018.10:g.51065455G>A	-
SMAD4	Q13485	p.Glu330Gln	COSM14240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065455G>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp332Gly	COSM14133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065462A>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Val333Ile	rs1274926456	missense variant	-	NC_000018.10:g.51065464G>A	TOPMed,gnomAD
SMAD4	Q13485	p.Gln334Ter	rs867764109	stop gained	-	NC_000018.10:g.51065467C>T	-
SMAD4	Q13485	p.Gln334His	rs773598775	missense variant	-	NC_000018.10:g.51065469G>T	ExAC,gnomAD
SMAD4	Q13485	p.Glu337Lys	COSM417827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065476G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Thr338Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51065480C>T	NCI-TCGA
SMAD4	Q13485	p.Phe339Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51065484T>A	NCI-TCGA
SMAD4	Q13485	p.Lys340Glu	COSM14109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065485A>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Pro342LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51065491C>-	NCI-TCGA
SMAD4	Q13485	p.Ser343Ter	COSM1389060	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51065495C>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ile347Val	rs747360831	missense variant	-	NC_000018.10:g.51065506A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ile347Phe	rs747360831	missense variant	-	NC_000018.10:g.51065506A>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Thr349Ile	rs564408927	missense variant	-	NC_000018.10:g.51065513C>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Asp351His	rs1057519739	missense variant	-	NC_000018.10:g.51065518G>C	-
SMAD4	Q13485	p.Asp351Asn	rs1057519739	missense variant	-	NC_000018.10:g.51065518G>A	-
SMAD4	Q13485	p.Asp351Tyr	COSM1151549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065518G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp351Gly	COSM373800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065519A>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp351Ala	COSM5576133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065519A>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gly352Arg	rs121912581	missense variant	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)	NC_000018.10:g.51065521G>A	UniProt,dbSNP
SMAD4	Q13485	p.Gly352Arg	VAR_019571	missense variant	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)	NC_000018.10:g.51065521G>A	UniProt
SMAD4	Q13485	p.Gly352Val	COSM1151246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065522G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gly352Ala	COSM4072504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065522G>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gly352Ter	COSM5364543	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51065521G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Tyr353Ter	rs863224400	stop gained	-	NC_000018.10:g.51065526C>G	gnomAD
SMAD4	Q13485	p.Tyr353Asn	COSM1471119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065524T>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Tyr353Cys	COSM14220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065525A>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp355Gly	COSM14232	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065531A>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp355Val	COSM3388466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065531A>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp355Asn	COSM24274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065530G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp355Tyr	COSM4754642	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065530G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Pro356Ser	COSM1226726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065533C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Pro356Leu	COSM14049	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065534C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gly358Ter	rs121912576	stop gained	-	NC_000018.10:g.51065539G>T	-
SMAD4	Q13485	p.Arg361Gly	rs80338963	missense variant	Juvenile polyposis syndrome (jps)	NC_000018.10:g.51065548C>G	gnomAD
SMAD4	Q13485	p.Arg361Gly	rs80338963	missense variant	-	NC_000018.10:g.51065548C>G	gnomAD
SMAD4	Q13485	p.Arg361Ser	rs80338963	missense variant	-	NC_000018.10:g.51065548C>A	gnomAD
SMAD4	Q13485	p.Arg361Cys	rs80338963	missense variant	-	NC_000018.10:g.51065548C>T	gnomAD
SMAD4	Q13485	p.Arg361Ser	rs80338963	missense variant	Juvenile polyposis syndrome (jps)	NC_000018.10:g.51065548C>A	gnomAD
SMAD4	Q13485	p.Arg361Cys	rs80338963	missense variant	Juvenile polyposis syndrome (jps)	NC_000018.10:g.51065548C>T	gnomAD
SMAD4	Q13485	p.Arg361Pro	rs377767347	missense variant	-	NC_000018.10:g.51065549G>C	-
SMAD4	Q13485	p.Arg361Cys	rs80338963	missense variant	Juvenile polyposis syndrome (JPS)	NC_000018.10:g.51065548C>T	UniProt,dbSNP
SMAD4	Q13485	p.Arg361Cys	VAR_019572	missense variant	Juvenile polyposis syndrome (JPS)	NC_000018.10:g.51065548C>T	UniProt
SMAD4	Q13485	p.Cys363Ser	rs876660556	missense variant	-	NC_000018.10:g.51065555G>C	-
SMAD4	Q13485	p.Cys363Tyr	rs876660556	missense variant	-	NC_000018.10:g.51065555G>A	-
SMAD4	Q13485	p.Cys363Trp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51065556T>G	NCI-TCGA
SMAD4	Q13485	p.Gly365Asp	COSM1389067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065561G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gly365Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51065560G>C	NCI-TCGA
SMAD4	Q13485	p.Gln366Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51065563C>A	NCI-TCGA
SMAD4	Q13485	p.Ser368Cys	COSM4072506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065570C>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asn369Ser	rs139569694	missense variant	-	NC_000018.10:g.51065573A>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Val370Gly	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51065576T>G	NCI-TCGA
SMAD4	Q13485	p.Arg372Gly	rs761858248	missense variant	-	NC_000018.10:g.51065581A>G	ExAC
SMAD4	Q13485	p.Thr373Arg	COSM4834240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51065585C>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Glu374Lys	rs201092541	missense variant	-	NC_000018.10:g.51065587G>A	ExAC,gnomAD
SMAD4	Q13485	p.Glu374Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51065587G>T	NCI-TCGA
SMAD4	Q13485	p.Glu377Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51065597A>T	NCI-TCGA
SMAD4	Q13485	p.His382Leu	COSM3388468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51067024A>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.His382Asp	COSM4072507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51067023C>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ile383Arg	COSM4072508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51067027T>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ile383Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51067027T>C	NCI-TCGA
SMAD4	Q13485	p.Gly384Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51067030G>A	NCI-TCGA
SMAD4	Q13485	p.Lys385Arg	rs923348055	missense variant	-	NC_000018.10:g.51067033A>G	TOPMed
SMAD4	Q13485	p.Gly386Ser	rs1057519962	missense variant	-	NC_000018.10:g.51067035G>A	-
SMAD4	Q13485	p.Gly386Asp	rs121912580	missense variant	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)	NC_000018.10:g.51067036G>A	UniProt,dbSNP
SMAD4	Q13485	p.Gly386Asp	VAR_019573	missense variant	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)	NC_000018.10:g.51067036G>A	UniProt
SMAD4	Q13485	p.Gln388Ter	rs80338964	stop gained	-	NC_000018.10:g.51067041C>T	-
SMAD4	Q13485	p.Gln388CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51067035_51067036insGT	NCI-TCGA
SMAD4	Q13485	p.Trp398CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51067069_51067100TTTGGGTCAGGTGCCTTAGTGACCACGCGGTC>-	NCI-TCGA
SMAD4	Q13485	p.Val399Asp	NCI-TCGA novel	inframe deletion	-	NC_000018.10:g.51067075_51067092TCAGGTGCCTTAGTGACC>-	NCI-TCGA
SMAD4	Q13485	p.His405Tyr	rs1179609154	missense variant	-	NC_000018.10:g.51067092C>T	TOPMed,gnomAD
SMAD4	Q13485	p.Ala406Val	rs1064796102	missense variant	-	NC_000018.10:g.51067096C>T	-
SMAD4	Q13485	p.Ala406Thr	rs794726995	missense variant	-	NC_000018.10:g.51067095G>A	-
SMAD4	Q13485	p.Val407Leu	rs147621330	missense variant	-	NC_000018.10:g.51067098G>C	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Phe408Leu	COSM1564039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51067103T>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Tyr412Ter	rs121912577	stop gained	-	NC_000018.10:g.51067115C>G	TOPMed,gnomAD
SMAD4	Q13485	p.Tyr412LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51067111_51067112insT	NCI-TCGA
SMAD4	Q13485	p.Tyr412Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51067113T>G	NCI-TCGA
SMAD4	Q13485	p.Tyr413Ter	rs730881954	stop gained	-	NC_000018.10:g.51067118C>A	TOPMed
SMAD4	Q13485	p.Asp415GluPheSerTerUnkUnk	COSM1266191	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51067121_51067124AGAC>-	NCI-TCGA Cosmic
SMAD4	Q13485	p.Arg416Ser	rs786202472	missense variant	-	NC_000018.10:g.51067127A>T	gnomAD
SMAD4	Q13485	p.Glu417SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51067125_51067126AG>-	NCI-TCGA
SMAD4	Q13485	p.Gly419Val	COSM1151291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51067135G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gly419Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51067135G>C	NCI-TCGA
SMAD4	Q13485	p.Arg420Cys	rs1367209662	missense variant	-	NC_000018.10:g.51067137C>T	gnomAD
SMAD4	Q13485	p.Asp424Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51067149G>A	NCI-TCGA
SMAD4	Q13485	p.His427Arg	rs1555686619	missense variant	-	NC_000018.10:g.51067159A>G	-
SMAD4	Q13485	p.Lys428Thr	rs1555686620	missense variant	-	NC_000018.10:g.51067162A>C	-
SMAD4	Q13485	p.Lys428Asn	COSM6149419	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51067163G>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Lys428Met	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51067162A>T	NCI-TCGA
SMAD4	Q13485	p.Ile429Asn	rs1469448199	missense variant	-	NC_000018.10:g.51067165T>A	TOPMed
SMAD4	Q13485	p.Pro431Leu	rs1306423305	missense variant	-	NC_000018.10:g.51067171C>T	TOPMed,gnomAD
SMAD4	Q13485	p.Ser432Asn	rs770301659	missense variant	-	NC_000018.10:g.51067174G>A	ExAC,gnomAD
SMAD4	Q13485	p.Ser432Thr	rs770301659	missense variant	-	NC_000018.10:g.51067174G>C	ExAC,gnomAD
SMAD4	Q13485	p.Ser432Ile	rs770301659	missense variant	-	NC_000018.10:g.51067174G>T	ExAC,gnomAD
SMAD4	Q13485	p.Tyr434Phe	rs780610518	missense variant	-	NC_000018.10:g.51067180A>T	ExAC,gnomAD
SMAD4	Q13485	p.Lys436Asn	COSM1389080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51067187G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Val437Asp	COSM265853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51076639T>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Arg441Cys	COSM14237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51076650C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Cys443Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51076658T>A	NCI-TCGA
SMAD4	Q13485	p.Arg445Gln	COSM3422225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51076663G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Arg445Ter	rs377767360	stop gained	-	NC_000018.10:g.51076662C>T	ExAC,gnomAD
SMAD4	Q13485	p.Gln448Leu	rs1197191570	missense variant	-	NC_000018.10:g.51076672A>T	gnomAD
SMAD4	Q13485	p.Gln450LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51076669_51076696TGCAGCAGCAGGCGGCTACTGCACAAGC>-	NCI-TCGA
SMAD4	Q13485	p.Gln450Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51076677C>T	NCI-TCGA
SMAD4	Q13485	p.Ala451Val	rs1275841831	missense variant	-	NC_000018.10:g.51076681C>T	gnomAD
SMAD4	Q13485	p.Ala451Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51076680G>A	NCI-TCGA
SMAD4	Q13485	p.Thr453Ala	rs768086109	missense variant	-	NC_000018.10:g.51076686A>G	ExAC,gnomAD
SMAD4	Q13485	p.Gln461Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51076710C>T	NCI-TCGA
SMAD4	Q13485	p.Val465Leu	rs786201798	missense variant	-	NC_000018.10:g.51076722G>T	gnomAD
SMAD4	Q13485	p.Val465Met	rs786201798	missense variant	-	NC_000018.10:g.51076722G>A	gnomAD
SMAD4	Q13485	p.Asn468Ser	rs569981255	missense variant	-	NC_000018.10:g.51076732A>G	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Ile469Leu	rs876658851	missense variant	-	NC_000018.10:g.51076734A>C	gnomAD
SMAD4	Q13485	p.Ile469Val	rs876658851	missense variant	-	NC_000018.10:g.51076734A>G	gnomAD
SMAD4	Q13485	p.Pro470His	COSM4072510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51076738C>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Pro472Ala	rs1169893474	missense variant	-	NC_000018.10:g.51076743C>G	TOPMed,gnomAD
SMAD4	Q13485	p.Ser474Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51076750C>A	NCI-TCGA
SMAD4	Q13485	p.Ala479Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51076764G>A	NCI-TCGA
SMAD4	Q13485	p.Ile482Val	rs864622736	missense variant	-	NC_000018.10:g.51076773A>G	gnomAD
SMAD4	Q13485	p.Ser483Arg	rs745598003	missense variant	-	NC_000018.10:g.51078257T>G	ExAC,gnomAD
SMAD4	Q13485	p.Ser485Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078262C>T	NCI-TCGA
SMAD4	Q13485	p.Val492Phe	COSM14222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078282G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp493His	rs121912578	missense variant	-	NC_000018.10:g.51078285G>C	-
SMAD4	Q13485	p.Asp493His	rs121912578	missense variant	-	NC_000018.10:g.51078285G>C	UniProt,dbSNP
SMAD4	Q13485	p.Asp493His	VAR_011380	missense variant	-	NC_000018.10:g.51078285G>C	UniProt
SMAD4	Q13485	p.Asp493Asn	COSM14227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078285G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Leu495Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078292T>G	NCI-TCGA
SMAD4	Q13485	p.Arg496Cys	rs397518413	missense variant	-	NC_000018.10:g.51078294C>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg496His	rs876660045	missense variant	-	NC_000018.10:g.51078295G>A	-
SMAD4	Q13485	p.Arg497His	COSM14113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078298G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Arg497Cys	rs762118751	missense variant	-	NC_000018.10:g.51078297C>T	ExAC,gnomAD
SMAD4	Q13485	p.Cys499Tyr	COSM14221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078304G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ile500Val	rs281875322	missense variant	Myhre syndrome (myhrs)	NC_000018.10:g.51078306A>G	gnomAD
SMAD4	Q13485	p.Ile500Met	rs281875320	missense variant	Myhre syndrome (myhrs)	NC_000018.10:g.51078308A>G	-
SMAD4	Q13485	p.Ile500Val	rs281875322	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078306A>G	UniProt,dbSNP
SMAD4	Q13485	p.Ile500Val	VAR_067604	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078306A>G	UniProt
SMAD4	Q13485	p.Ile500Met	rs281875320	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078308A>G	UniProt,dbSNP
SMAD4	Q13485	p.Ile500Met	VAR_067602	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078308A>G	UniProt
SMAD4	Q13485	p.Ile500Thr	rs281875321	missense variant	Myhre syndrome (myhrs)	NC_000018.10:g.51078307T>C	-
SMAD4	Q13485	p.Ile500Thr	rs281875321	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078307T>C	UniProt,dbSNP
SMAD4	Q13485	p.Ile500Thr	VAR_067603	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078307T>C	UniProt
SMAD4	Q13485	p.Met503Leu	rs1426800709	missense variant	-	NC_000018.10:g.51078315A>C	TOPMed
SMAD4	Q13485	p.Ser504Arg	COSM14148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078320T>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ser504Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078320T>G	NCI-TCGA
SMAD4	Q13485	p.Phe505Leu	rs1364877488	missense variant	-	NC_000018.10:g.51078323T>A	gnomAD
SMAD4	Q13485	p.Lys507ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51078327_51078328AA>-	NCI-TCGA
SMAD4	Q13485	p.Lys507Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078329A>T	NCI-TCGA
SMAD4	Q13485	p.Trp509Ter	rs377767370	stop gained	-	NC_000018.10:g.51078335G>A	-
SMAD4	Q13485	p.Trp509Arg	COSM1389102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078333T>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gly510Arg	COSM6056828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078336G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gly510Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51078336G>T	NCI-TCGA
SMAD4	Q13485	p.Pro511Leu	rs773367516	missense variant	-	NC_000018.10:g.51078340C>T	ExAC,gnomAD
SMAD4	Q13485	p.Tyr513Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51078345_51078346insA	NCI-TCGA
SMAD4	Q13485	p.Pro514Leu	rs1282106789	missense variant	-	NC_000018.10:g.51078349C>T	gnomAD
SMAD4	Q13485	p.Pro514Ser	rs1221103079	missense variant	-	NC_000018.10:g.51078348C>T	gnomAD
SMAD4	Q13485	p.Gln516Ter	COSM14143	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51078354C>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Gln516Glu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078354C>G	NCI-TCGA
SMAD4	Q13485	p.Lys519Arg	rs1015480027	missense variant	-	NC_000018.10:g.51078364A>G	TOPMed
SMAD4	Q13485	p.Lys519Asn	COSM988906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078365A>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Lys519Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51078363A>T	NCI-TCGA
SMAD4	Q13485	p.Glu520Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51078366G>T	NCI-TCGA
SMAD4	Q13485	p.Thr521Ile	rs876659840	missense variant	-	NC_000018.10:g.51078370C>T	gnomAD
SMAD4	Q13485	p.Pro522LeuPheSerTerUnk	rs377767374	frameshift	-	NC_000018.10:g.51078372_51078373CC>-	NCI-TCGA
SMAD4	Q13485	p.Cys523Trp	COSM14115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078377C>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Trp524Leu	rs377767375	missense variant	-	NC_000018.10:g.51078379G>T	-
SMAD4	Q13485	p.Trp524Cys	COSM3388472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078380G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Trp524Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078378T>A	NCI-TCGA
SMAD4	Q13485	p.Ile525Val	rs149755320	missense variant	-	NC_000018.10:g.51078381A>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ile525Thr	rs1304558237	missense variant	-	NC_000018.10:g.51078382T>C	gnomAD
SMAD4	Q13485	p.Glu526Ter	COSM14134	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51078384G>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Leu529ThrPheSerTerUnk	COSM14130	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51078391_51078394ACTT>-	NCI-TCGA Cosmic
SMAD4	Q13485	p.Leu529Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.51078394T>G	NCI-TCGA
SMAD4	Q13485	p.His530Asn	rs754393017	missense variant	-	NC_000018.10:g.51078396C>A	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg531Trp	rs766833269	missense variant	-	NC_000018.10:g.51078399C>T	ExAC,gnomAD
SMAD4	Q13485	p.Ala532Asp	COSM1389109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078403C>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ala532ProPheSerTerUnk	COSM1389108	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.51078400G>-	NCI-TCGA Cosmic
SMAD4	Q13485	p.Ala532Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078402G>T	NCI-TCGA
SMAD4	Q13485	p.Gln534Pro	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078409A>C	NCI-TCGA
SMAD4	Q13485	p.Leu535ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51078412_51078418TCCTAGA>-	NCI-TCGA
SMAD4	Q13485	p.Leu536Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078415T>G	NCI-TCGA
SMAD4	Q13485	p.Leu536Pro	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078415T>C	NCI-TCGA
SMAD4	Q13485	p.Asp537Gly	rs1555687605	missense variant	-	NC_000018.10:g.51078418A>G	-
SMAD4	Q13485	p.Asp537Tyr	rs1057519741	missense variant	-	NC_000018.10:g.51078417G>T	-
SMAD4	Q13485	p.Asp537His	COSM1389112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078417G>C	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp537Glu	COSM3422226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078419C>G	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp537Val	COSM256174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078418A>T	NCI-TCGA Cosmic
SMAD4	Q13485	p.Asp537Glu	COSM709386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078419C>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Glu538Lys	COSM988907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.51078420G>A	NCI-TCGA Cosmic
SMAD4	Q13485	p.Val539AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51078423_51078439GTACTTCATACCATGCC>-	NCI-TCGA
SMAD4	Q13485	p.Leu540ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51078424_51078430TACTTCA>-	NCI-TCGA
SMAD4	Q13485	p.Ile545Met	rs200595795	missense variant	-	NC_000018.10:g.51078443T>G	1000Genomes
SMAD4	Q13485	p.Pro550Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.51078456C>A	NCI-TCGA
SMAD4	Q13485	p.Asp552ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.51078462G>-	NCI-TCGA
SMAD4	Q13485	p.Asn3Asp	rs774342820	missense variant	-	NC_000018.10:g.51047053A>G	ExAC,gnomAD
SMAD4	Q13485	p.Ile6Val	rs1376500870	missense variant	-	NC_000018.10:g.51047062A>G	gnomAD
SMAD4	Q13485	p.Thr7Met	rs372316981	missense variant	-	NC_000018.10:g.51047066C>T	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Asn13Ser	rs281875323	missense variant	-	NC_000018.10:g.51047084A>G	ExAC,gnomAD
SMAD4	Q13485	p.Asn13Ser	rs281875323	missense variant	-	NC_000018.10:g.51047084A>G	UniProt,dbSNP
SMAD4	Q13485	p.Asn13Ser	VAR_066870	missense variant	-	NC_000018.10:g.51047084A>G	UniProt
SMAD4	Q13485	p.His21Arg	rs1280706054	missense variant	-	NC_000018.10:g.51047108A>G	gnomAD
SMAD4	Q13485	p.Met24Val	rs876659391	missense variant	-	NC_000018.10:g.51047116A>G	gnomAD
SMAD4	Q13485	p.Ala39Thr	rs758408642	missense variant	-	NC_000018.10:g.51047161G>A	ExAC,gnomAD
SMAD4	Q13485	p.Val44Ile	rs746732669	missense variant	-	NC_000018.10:g.51047176G>A	ExAC,gnomAD
SMAD4	Q13485	p.Lys46Arg	rs1392175055	missense variant	-	NC_000018.10:g.51047183A>G	gnomAD
SMAD4	Q13485	p.Leu47Val	rs770789755	missense variant	-	NC_000018.10:g.51047185C>G	ExAC,gnomAD
SMAD4	Q13485	p.Glu49Gly	rs780090544	missense variant	-	NC_000018.10:g.51047192A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ile61Val	rs1064794204	missense variant	-	NC_000018.10:g.51047227A>G	gnomAD
SMAD4	Q13485	p.Ile61Leu	rs1064794204	missense variant	-	NC_000018.10:g.51047227A>C	gnomAD
SMAD4	Q13485	p.Thr62Ile	rs1316987372	missense variant	-	NC_000018.10:g.51047231C>T	TOPMed
SMAD4	Q13485	p.Ile74Val	rs772506979	missense variant	-	NC_000018.10:g.51047266A>G	ExAC,gnomAD
SMAD4	Q13485	p.Gly80Arg	rs1382032973	missense variant	-	NC_000018.10:g.51047284G>A	TOPMed
SMAD4	Q13485	p.Arg87Pro	rs1060500735	missense variant	-	NC_000018.10:g.51048696G>C	gnomAD
SMAD4	Q13485	p.Arg87Gln	rs1060500735	missense variant	-	NC_000018.10:g.51048696G>A	gnomAD
SMAD4	Q13485	p.Tyr95Phe	rs1460631652	missense variant	-	NC_000018.10:g.51048720A>T	gnomAD
SMAD4	Q13485	p.Arg97Cys	rs1555685158	missense variant	-	NC_000018.10:g.51048725C>T	-
SMAD4	Q13485	p.His111Pro	rs1064794363	missense variant	-	NC_000018.10:g.51048768A>C	TOPMed,gnomAD
SMAD4	Q13485	p.Cys115Tyr	rs876659844	missense variant	-	NC_000018.10:g.51048780G>A	-
SMAD4	Q13485	p.Gln116Arg	rs1291259529	missense variant	-	NC_000018.10:g.51048783A>G	gnomAD
SMAD4	Q13485	p.Cys123Tyr	rs1357104939	missense variant	-	NC_000018.10:g.51048804G>A	TOPMed
SMAD4	Q13485	p.Asp124Ala	rs750172880	missense variant	-	NC_000018.10:g.51048807A>C	ExAC,gnomAD
SMAD4	Q13485	p.Pro130Ser	rs1555685186	missense variant	-	NC_000018.10:g.51048824C>T	UniProt,dbSNP
SMAD4	Q13485	p.Pro130Ser	VAR_036475	missense variant	-	NC_000018.10:g.51048824C>T	UniProt
SMAD4	Q13485	p.Pro130Ser	rs1555685186	missense variant	-	NC_000018.10:g.51048824C>T	-
SMAD4	Q13485	p.His132Tyr	rs1060500743	missense variant	-	NC_000018.10:g.51048830C>T	-
SMAD4	Q13485	p.Glu134Gln	rs748395067	missense variant	-	NC_000018.10:g.51048836G>C	ExAC,gnomAD
SMAD4	Q13485	p.Arg135Ter	rs377767326	stop gained	-	NC_000018.10:g.51048839C>T	-
SMAD4	Q13485	p.Pro139Thr	rs1474668300	missense variant	-	NC_000018.10:g.51048851C>A	gnomAD
SMAD4	Q13485	p.Ser150Asn	rs750355699	missense variant	-	NC_000018.10:g.51049319G>A	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro153Ser	rs751763157	missense variant	-	NC_000018.10:g.51054783C>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser155Gly	rs1057519259	missense variant	-	NC_000018.10:g.51054789A>G	gnomAD
SMAD4	Q13485	p.Ser155Thr	rs199790852	missense variant	-	NC_000018.10:g.51054790G>C	1000Genomes,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser155Asn	rs199790852	missense variant	-	NC_000018.10:g.51054790G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Met156Leu	rs534355764	missense variant	-	NC_000018.10:g.51054792A>T	1000Genomes,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Met157Ile	rs780716382	missense variant	-	NC_000018.10:g.51054797G>A	ExAC,gnomAD
SMAD4	Q13485	p.Met157Leu	rs1443471590	missense variant	-	NC_000018.10:g.51054795A>T	TOPMed
SMAD4	Q13485	p.Met157Thr	rs756675590	missense variant	-	NC_000018.10:g.51054796T>C	ExAC,gnomAD
SMAD4	Q13485	p.Glu161Lys	rs1183671082	missense variant	-	NC_000018.10:g.51054807G>A	gnomAD
SMAD4	Q13485	p.His164Arg	rs876660058	missense variant	-	NC_000018.10:g.51054817A>G	gnomAD
SMAD4	Q13485	p.Gln169Glu	rs1449334786	missense variant	-	NC_000018.10:g.51054831C>G	gnomAD
SMAD4	Q13485	p.Thr174Ala	rs1333974956	missense variant	-	NC_000018.10:g.51054846A>G	gnomAD
SMAD4	Q13485	p.Thr174Asn	rs138800446	missense variant	-	NC_000018.10:g.51054847C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser178Ter	rs377767331	stop gained	-	NC_000018.10:g.51054859C>G	-
SMAD4	Q13485	p.Ile179Val	rs542392980	missense variant	-	NC_000018.10:g.51054861A>G	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Ile179Phe	rs542392980	missense variant	-	NC_000018.10:g.51054861A>T	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Gln180Ter	rs377767332	stop gained	-	NC_000018.10:g.51054864C>T	-
SMAD4	Q13485	p.His184Pro	rs760236686	missense variant	-	NC_000018.10:g.51054877A>C	ExAC,gnomAD
SMAD4	Q13485	p.Pro185Gln	rs770798845	missense variant	-	NC_000018.10:g.51054880C>A	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro185Leu	rs770798845	missense variant	-	NC_000018.10:g.51054880C>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189Leu	rs759288477	missense variant	-	NC_000018.10:g.51054892G>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189Ser	rs140743238	missense variant	-	NC_000018.10:g.51054891C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189Gly	rs140743238	missense variant	-	NC_000018.10:g.51054891C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189His	rs759288477	missense variant	-	NC_000018.10:g.51054892G>A	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg189Cys	rs140743238	missense variant	-	NC_000018.10:g.51054891C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser191Leu	rs752575871	missense variant	-	NC_000018.10:g.51054898C>T	ExAC,gnomAD
SMAD4	Q13485	p.Thr192Ile	rs587780792	missense variant	-	NC_000018.10:g.51054901C>T	ExAC,gnomAD
SMAD4	Q13485	p.Thr194Ala	rs1432058632	missense variant	-	NC_000018.10:g.51054906A>G	TOPMed
SMAD4	Q13485	p.Pro198Leu	rs1189715258	missense variant	-	NC_000018.10:g.51054919C>T	gnomAD
SMAD4	Q13485	p.Pro198Arg	rs1189715258	missense variant	-	NC_000018.10:g.51054919C>G	gnomAD
SMAD4	Q13485	p.Leu200Val	rs1477349147	missense variant	-	NC_000018.10:g.51054924C>G	gnomAD
SMAD4	Q13485	p.Pro203Thr	rs199809905	missense variant	-	NC_000018.10:g.51054933C>A	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Pro203Leu	rs779119136	missense variant	-	NC_000018.10:g.51054934C>T	ExAC,gnomAD
SMAD4	Q13485	p.Pro203Ala	rs199809905	missense variant	-	NC_000018.10:g.51054933C>G	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Pro203Ser	rs199809905	missense variant	-	NC_000018.10:g.51054933C>T	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Glu205Ala	rs748615724	missense variant	-	NC_000018.10:g.51054940A>C	ExAC,gnomAD
SMAD4	Q13485	p.Ala208Thr	rs1046411210	missense variant	-	NC_000018.10:g.51054948G>A	TOPMed
SMAD4	Q13485	p.Asn213Ser	rs757977781	missense variant	-	NC_000018.10:g.51054964A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro215Arg	rs777495692	missense variant	-	NC_000018.10:g.51054970C>G	ExAC,gnomAD
SMAD4	Q13485	p.Pro215Ser	rs1064793270	missense variant	-	NC_000018.10:g.51054969C>T	-
SMAD4	Q13485	p.Asn216Ser	rs138386557	missense variant	-	NC_000018.10:g.51054973A>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro218Thr	rs1345146274	missense variant	-	NC_000018.10:g.51054978C>A	TOPMed,gnomAD
SMAD4	Q13485	p.Val219Met	rs1368696589	missense variant	-	NC_000018.10:g.51054981G>A	gnomAD
SMAD4	Q13485	p.Thr222Ala	rs770461626	missense variant	-	NC_000018.10:g.51054990A>G	ExAC,gnomAD
SMAD4	Q13485	p.Ser223Ile	rs774334251	missense variant	-	NC_000018.10:g.51058125G>T	ExAC,gnomAD
SMAD4	Q13485	p.Ser223Asn	rs774334251	missense variant	-	NC_000018.10:g.51058125G>A	ExAC,gnomAD
SMAD4	Q13485	p.Gln224Leu	rs587780793	missense variant	-	NC_000018.10:g.51058128A>T	TOPMed,gnomAD
SMAD4	Q13485	p.Ala226Val	rs539739051	missense variant	-	NC_000018.10:g.51058134C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ser227Gly	rs1443767329	missense variant	-	NC_000018.10:g.51058136A>G	TOPMed
SMAD4	Q13485	p.Ile228Val	rs1280682459	missense variant	-	NC_000018.10:g.51058139A>G	TOPMed
SMAD4	Q13485	p.Leu229Arg	rs75667697	missense variant	-	NC_000018.10:g.51058143T>G	ExAC,gnomAD
SMAD4	Q13485	p.Gly231Ala	rs759679579	missense variant	-	NC_000018.10:g.51058149G>C	ExAC,gnomAD
SMAD4	Q13485	p.His233Asn	rs552880257	missense variant	-	NC_000018.10:g.51058154C>A	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Ser234Gly	rs758642067	missense variant	-	NC_000018.10:g.51058157A>G	ExAC,gnomAD
SMAD4	Q13485	p.Ser234Arg	rs758642067	missense variant	-	NC_000018.10:g.51058157A>C	ExAC,gnomAD
SMAD4	Q13485	p.Gln239Glu	rs1163381283	missense variant	-	NC_000018.10:g.51058172C>G	gnomAD
SMAD4	Q13485	p.Pro244His	rs764421512	missense variant	-	NC_000018.10:g.51058188C>A	ExAC,gnomAD
SMAD4	Q13485	p.Pro246Thr	rs876659967	missense variant	-	NC_000018.10:g.51058193C>A	gnomAD
SMAD4	Q13485	p.Gln248Leu	rs751985298	missense variant	-	NC_000018.10:g.51058200A>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Gln249Lys	rs1370953444	missense variant	-	NC_000018.10:g.51058202C>A	gnomAD
SMAD4	Q13485	p.Gln249Arg	rs371536364	missense variant	-	NC_000018.10:g.51058203A>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Gln249Glu	rs1370953444	missense variant	-	NC_000018.10:g.51058202C>G	gnomAD
SMAD4	Q13485	p.Gln249Pro	rs371536364	missense variant	-	NC_000018.10:g.51058203A>C	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Gln249His	rs372095620	missense variant	-	NC_000018.10:g.51058204G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Gln250Glu	rs1372278030	missense variant	-	NC_000018.10:g.51058205C>G	TOPMed
SMAD4	Q13485	p.Gly252Val	rs878854768	missense variant	-	NC_000018.10:g.51058212G>T	gnomAD
SMAD4	Q13485	p.Thr254Ala	rs1284924848	missense variant	-	NC_000018.10:g.51058217A>G	gnomAD
SMAD4	Q13485	p.Gly270Glu	rs143082783	missense variant	-	NC_000018.10:g.51058361G>A	ESP
SMAD4	Q13485	p.Ser271Asn	rs1343555503	missense variant	-	NC_000018.10:g.51058364G>A	TOPMed,gnomAD
SMAD4	Q13485	p.Thr273Ser	rs1282145977	missense variant	-	NC_000018.10:g.51058370C>G	TOPMed
SMAD4	Q13485	p.Ala274Thr	rs751860447	missense variant	-	NC_000018.10:g.51058372G>A	ExAC,gnomAD
SMAD4	Q13485	p.Tyr276Phe	rs1229812463	missense variant	-	NC_000018.10:g.51058379A>T	TOPMed
SMAD4	Q13485	p.Pro278Thr	rs1257577085	missense variant	-	NC_000018.10:g.51058384C>A	gnomAD
SMAD4	Q13485	p.Gly286Ser	rs750111831	missense variant	-	NC_000018.10:g.51058408G>A	ExAC,gnomAD
SMAD4	Q13485	p.Gln289Arg	rs1451329701	missense variant	-	NC_000018.10:g.51058418A>G	gnomAD
SMAD4	Q13485	p.His290Pro	rs755770046	missense variant	-	NC_000018.10:g.51058421A>C	ExAC
SMAD4	Q13485	p.His291Tyr	rs863224733	missense variant	-	NC_000018.10:g.51058423C>T	TOPMed
SMAD4	Q13485	p.His291Pro	rs779583608	missense variant	-	NC_000018.10:g.51058424A>C	ExAC,gnomAD
SMAD4	Q13485	p.Pro292Leu	rs786201404	missense variant	-	NC_000018.10:g.51058427C>T	TOPMed,gnomAD
SMAD4	Q13485	p.Met294Val	rs7238500	missense variant	-	NC_000018.10:g.51058432A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro295Gln	rs370176106	missense variant	-	NC_000018.10:g.51058436C>A	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro295Arg	rs370176106	missense variant	-	NC_000018.10:g.51058436C>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro295Ala	rs1167543544	missense variant	-	NC_000018.10:g.51058435C>G	TOPMed
SMAD4	Q13485	p.Pro295Leu	rs370176106	missense variant	-	NC_000018.10:g.51058436C>T	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Pro296Leu	rs1417632301	missense variant	-	NC_000018.10:g.51058439C>T	TOPMed
SMAD4	Q13485	p.Gly299Arg	rs1330888967	missense variant	-	NC_000018.10:g.51058447G>A	gnomAD
SMAD4	Q13485	p.His300Asp	rs963931106	missense variant	-	NC_000018.10:g.51058450C>G	TOPMed
SMAD4	Q13485	p.Tyr301Ter	rs746084369	stop gained	-	NC_000018.10:g.51058455C>G	ExAC,gnomAD
SMAD4	Q13485	p.Trp302Ter	rs878854769	stop gained	-	NC_000018.10:g.51059867G>A	-
SMAD4	Q13485	p.Val304Ile	rs375185293	missense variant	-	NC_000018.10:g.51059871G>A	ESP,ExAC,gnomAD
SMAD4	Q13485	p.Asn306Ser	rs730881953	missense variant	-	NC_000018.10:g.51059878A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Leu308Ile	rs1383128743	missense variant	-	NC_000018.10:g.51059883C>A	gnomAD
SMAD4	Q13485	p.Ala309Ser	rs774463256	missense variant	-	NC_000018.10:g.51059886G>T	ExAC,gnomAD
SMAD4	Q13485	p.Ala309Pro	rs774463256	missense variant	-	NC_000018.10:g.51059886G>C	ExAC,gnomAD
SMAD4	Q13485	p.Gln311Arg	rs1381679797	missense variant	-	NC_000018.10:g.51059893A>G	gnomAD
SMAD4	Q13485	p.Ile314Val	rs748622028	missense variant	-	NC_000018.10:g.51059901A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Asn316Ser	rs377119288	missense variant	-	NC_000018.10:g.51059908A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Trp323Cys	rs772575670	missense variant	-	NC_000018.10:g.51065436G>C	ExAC
SMAD4	Q13485	p.Ile326Val	rs1402203611	missense variant	-	NC_000018.10:g.51065443A>G	TOPMed
SMAD4	Q13485	p.Phe329Leu	rs572960016	missense variant	-	NC_000018.10:g.51065454T>G	1000Genomes
SMAD4	Q13485	p.Glu330Lys	rs377767342	missense variant	-	NC_000018.10:g.51065455G>A	-
SMAD4	Q13485	p.Glu330Gly	rs281875324	missense variant	Juvenile polyposis syndrome (JPS)	NC_000018.10:g.51065456A>G	UniProt,dbSNP
SMAD4	Q13485	p.Glu330Gly	VAR_022833	missense variant	Juvenile polyposis syndrome (JPS)	NC_000018.10:g.51065456A>G	UniProt
SMAD4	Q13485	p.Val333Ile	rs1274926456	missense variant	-	NC_000018.10:g.51065464G>A	TOPMed,gnomAD
SMAD4	Q13485	p.Gln334Ter	rs867764109	stop gained	-	NC_000018.10:g.51065467C>T	-
SMAD4	Q13485	p.Gln334His	rs773598775	missense variant	-	NC_000018.10:g.51065469G>T	ExAC,gnomAD
SMAD4	Q13485	p.Ile347Val	rs747360831	missense variant	-	NC_000018.10:g.51065506A>G	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ile347Phe	rs747360831	missense variant	-	NC_000018.10:g.51065506A>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Thr349Ile	rs564408927	missense variant	-	NC_000018.10:g.51065513C>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Asp351His	rs1057519739	missense variant	-	NC_000018.10:g.51065518G>C	-
SMAD4	Q13485	p.Asp351Asn	rs1057519739	missense variant	-	NC_000018.10:g.51065518G>A	-
SMAD4	Q13485	p.Gly352Arg	rs121912581	missense variant	-	NC_000018.10:g.51065521G>A	-
SMAD4	Q13485	p.Gly352Arg	rs121912581	missense variant	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)	NC_000018.10:g.51065521G>A	UniProt,dbSNP
SMAD4	Q13485	p.Gly352Arg	VAR_019571	missense variant	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)	NC_000018.10:g.51065521G>A	UniProt
SMAD4	Q13485	p.Tyr353Ter	rs863224400	stop gained	-	NC_000018.10:g.51065526C>G	gnomAD
SMAD4	Q13485	p.Gly358Ter	rs121912576	stop gained	-	NC_000018.10:g.51065539G>T	-
SMAD4	Q13485	p.Arg361Cys	rs80338963	missense variant	Juvenile polyposis syndrome (jps)	NC_000018.10:g.51065548C>T	gnomAD
SMAD4	Q13485	p.Arg361Ser	rs80338963	missense variant	-	NC_000018.10:g.51065548C>A	gnomAD
SMAD4	Q13485	p.Arg361Ser	rs80338963	missense variant	Juvenile polyposis syndrome (jps)	NC_000018.10:g.51065548C>A	gnomAD
SMAD4	Q13485	p.Arg361Gly	rs80338963	missense variant	-	NC_000018.10:g.51065548C>G	gnomAD
SMAD4	Q13485	p.Arg361Cys	rs80338963	missense variant	-	NC_000018.10:g.51065548C>T	gnomAD
SMAD4	Q13485	p.Arg361Gly	rs80338963	missense variant	Juvenile polyposis syndrome (jps)	NC_000018.10:g.51065548C>G	gnomAD
SMAD4	Q13485	p.Arg361Cys	rs80338963	missense variant	Juvenile polyposis syndrome (jps)	NC_000018.10:g.51065548C>T	gnomAD
SMAD4	Q13485	p.Arg361Cys	rs80338963	missense variant	Juvenile polyposis syndrome (JPS)	NC_000018.10:g.51065548C>T	UniProt,dbSNP
SMAD4	Q13485	p.Arg361Cys	VAR_019572	missense variant	Juvenile polyposis syndrome (JPS)	NC_000018.10:g.51065548C>T	UniProt
SMAD4	Q13485	p.Cys363Ser	rs876660556	missense variant	-	NC_000018.10:g.51065555G>C	-
SMAD4	Q13485	p.Cys363Tyr	rs876660556	missense variant	-	NC_000018.10:g.51065555G>A	-
SMAD4	Q13485	p.Asn369Ser	rs139569694	missense variant	-	NC_000018.10:g.51065573A>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg372Gly	rs761858248	missense variant	-	NC_000018.10:g.51065581A>G	ExAC
SMAD4	Q13485	p.Glu374Lys	rs201092541	missense variant	-	NC_000018.10:g.51065587G>A	ExAC,gnomAD
SMAD4	Q13485	p.Lys385Arg	rs923348055	missense variant	-	NC_000018.10:g.51067033A>G	TOPMed
SMAD4	Q13485	p.Gly386Val	rs121912580	missense variant	-	NC_000018.10:g.51067036G>T	-
SMAD4	Q13485	p.Gly386Ser	rs1057519962	missense variant	-	NC_000018.10:g.51067035G>A	-
SMAD4	Q13485	p.Gly386Asp	rs121912580	missense variant	-	NC_000018.10:g.51067036G>A	-
SMAD4	Q13485	p.Gly386Asp	rs121912580	missense variant	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)	NC_000018.10:g.51067036G>A	UniProt,dbSNP
SMAD4	Q13485	p.Gly386Asp	VAR_019573	missense variant	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)	NC_000018.10:g.51067036G>A	UniProt
SMAD4	Q13485	p.Gln388Ter	rs80338964	stop gained	-	NC_000018.10:g.51067041C>T	-
SMAD4	Q13485	p.His405Tyr	rs1179609154	missense variant	-	NC_000018.10:g.51067092C>T	TOPMed,gnomAD
SMAD4	Q13485	p.Ala406Thr	rs794726995	missense variant	-	NC_000018.10:g.51067095G>A	-
SMAD4	Q13485	p.Ala406Val	rs1064796102	missense variant	-	NC_000018.10:g.51067096C>T	-
SMAD4	Q13485	p.Val407Leu	rs147621330	missense variant	-	NC_000018.10:g.51067098G>C	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Tyr412Ter	rs121912577	stop gained	-	NC_000018.10:g.51067115C>G	TOPMed,gnomAD
SMAD4	Q13485	p.Tyr413Ter	rs730881954	stop gained	-	NC_000018.10:g.51067118C>A	TOPMed
SMAD4	Q13485	p.Arg416Ser	rs786202472	missense variant	-	NC_000018.10:g.51067127A>T	gnomAD
SMAD4	Q13485	p.Arg420Cys	rs1367209662	missense variant	-	NC_000018.10:g.51067137C>T	gnomAD
SMAD4	Q13485	p.His427Arg	rs1555686619	missense variant	-	NC_000018.10:g.51067159A>G	-
SMAD4	Q13485	p.Lys428Thr	rs1555686620	missense variant	-	NC_000018.10:g.51067162A>C	-
SMAD4	Q13485	p.Ile429Asn	rs1469448199	missense variant	-	NC_000018.10:g.51067165T>A	TOPMed
SMAD4	Q13485	p.Pro431Leu	rs1306423305	missense variant	-	NC_000018.10:g.51067171C>T	TOPMed,gnomAD
SMAD4	Q13485	p.Ser432Asn	rs770301659	missense variant	-	NC_000018.10:g.51067174G>A	ExAC,gnomAD
SMAD4	Q13485	p.Ser432Thr	rs770301659	missense variant	-	NC_000018.10:g.51067174G>C	ExAC,gnomAD
SMAD4	Q13485	p.Ser432Ile	rs770301659	missense variant	-	NC_000018.10:g.51067174G>T	ExAC,gnomAD
SMAD4	Q13485	p.Tyr434Phe	rs780610518	missense variant	-	NC_000018.10:g.51067180A>T	ExAC,gnomAD
SMAD4	Q13485	p.Arg445Ter	rs377767360	stop gained	-	NC_000018.10:g.51076662C>T	ExAC,gnomAD
SMAD4	Q13485	p.Gln448Leu	rs1197191570	missense variant	-	NC_000018.10:g.51076672A>T	gnomAD
SMAD4	Q13485	p.Ala451Val	rs1275841831	missense variant	-	NC_000018.10:g.51076681C>T	gnomAD
SMAD4	Q13485	p.Thr453Ala	rs768086109	missense variant	-	NC_000018.10:g.51076686A>G	ExAC,gnomAD
SMAD4	Q13485	p.Val465Leu	rs786201798	missense variant	-	NC_000018.10:g.51076722G>T	gnomAD
SMAD4	Q13485	p.Val465Met	rs786201798	missense variant	-	NC_000018.10:g.51076722G>A	gnomAD
SMAD4	Q13485	p.Asn468Ser	rs569981255	missense variant	-	NC_000018.10:g.51076732A>G	1000Genomes,ExAC,gnomAD
SMAD4	Q13485	p.Ile469Leu	rs876658851	missense variant	-	NC_000018.10:g.51076734A>C	gnomAD
SMAD4	Q13485	p.Ile469Val	rs876658851	missense variant	-	NC_000018.10:g.51076734A>G	gnomAD
SMAD4	Q13485	p.Pro472Ala	rs1169893474	missense variant	-	NC_000018.10:g.51076743C>G	TOPMed,gnomAD
SMAD4	Q13485	p.Ile482Val	rs864622736	missense variant	-	NC_000018.10:g.51076773A>G	gnomAD
SMAD4	Q13485	p.Ser483Arg	rs745598003	missense variant	-	NC_000018.10:g.51078257T>G	ExAC,gnomAD
SMAD4	Q13485	p.Asp493His	rs121912578	missense variant	-	NC_000018.10:g.51078285G>C	-
SMAD4	Q13485	p.Asp493His	rs121912578	missense variant	-	NC_000018.10:g.51078285G>C	UniProt,dbSNP
SMAD4	Q13485	p.Asp493His	VAR_011380	missense variant	-	NC_000018.10:g.51078285G>C	UniProt
SMAD4	Q13485	p.Arg496Cys	rs397518413	missense variant	-	NC_000018.10:g.51078294C>T	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg496His	rs876660045	missense variant	-	NC_000018.10:g.51078295G>A	-
SMAD4	Q13485	p.Arg497Cys	rs762118751	missense variant	-	NC_000018.10:g.51078297C>T	ExAC,gnomAD
SMAD4	Q13485	p.Ile500Thr	rs281875321	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078307T>C	UniProt,dbSNP
SMAD4	Q13485	p.Ile500Thr	VAR_067603	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078307T>C	UniProt
SMAD4	Q13485	p.Ile500Thr	rs281875321	missense variant	Myhre syndrome (myhrs)	NC_000018.10:g.51078307T>C	-
SMAD4	Q13485	p.Ile500Val	rs281875322	missense variant	Myhre syndrome (myhrs)	NC_000018.10:g.51078306A>G	gnomAD
SMAD4	Q13485	p.Ile500Met	rs281875320	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078308A>G	UniProt,dbSNP
SMAD4	Q13485	p.Ile500Met	VAR_067602	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078308A>G	UniProt
SMAD4	Q13485	p.Ile500Val	rs281875322	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078306A>G	UniProt,dbSNP
SMAD4	Q13485	p.Ile500Val	VAR_067604	missense variant	Myhre syndrome (MYHRS)	NC_000018.10:g.51078306A>G	UniProt
SMAD4	Q13485	p.Met503Leu	rs1426800709	missense variant	-	NC_000018.10:g.51078315A>C	TOPMed
SMAD4	Q13485	p.Phe505Leu	rs1364877488	missense variant	-	NC_000018.10:g.51078323T>A	gnomAD
SMAD4	Q13485	p.Trp509Gly	rs377767369	missense variant	-	NC_000018.10:g.51078333T>G	-
SMAD4	Q13485	p.Trp509Ter	rs377767370	stop gained	-	NC_000018.10:g.51078335G>A	-
SMAD4	Q13485	p.Pro511Leu	rs773367516	missense variant	-	NC_000018.10:g.51078340C>T	ExAC,gnomAD
SMAD4	Q13485	p.Pro514Ser	rs1221103079	missense variant	-	NC_000018.10:g.51078348C>T	gnomAD
SMAD4	Q13485	p.Pro514Leu	rs1282106789	missense variant	-	NC_000018.10:g.51078349C>T	gnomAD
SMAD4	Q13485	p.Lys519Arg	rs1015480027	missense variant	-	NC_000018.10:g.51078364A>G	TOPMed
SMAD4	Q13485	p.Thr521Ile	rs876659840	missense variant	-	NC_000018.10:g.51078370C>T	gnomAD
SMAD4	Q13485	p.Trp524Leu	rs377767375	missense variant	-	NC_000018.10:g.51078379G>T	-
SMAD4	Q13485	p.Ile525Val	rs149755320	missense variant	-	NC_000018.10:g.51078381A>G	ESP,ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Ile525Thr	rs1304558237	missense variant	-	NC_000018.10:g.51078382T>C	gnomAD
SMAD4	Q13485	p.His530Asn	rs754393017	missense variant	-	NC_000018.10:g.51078396C>A	ExAC,TOPMed,gnomAD
SMAD4	Q13485	p.Arg531Trp	rs766833269	missense variant	-	NC_000018.10:g.51078399C>T	ExAC,gnomAD
SMAD4	Q13485	p.Asp537Gly	rs1555687605	missense variant	-	NC_000018.10:g.51078418A>G	-
SMAD4	Q13485	p.Asp537Tyr	rs1057519741	missense variant	-	NC_000018.10:g.51078417G>T	-
SMAD4	Q13485	p.Ile545Met	rs200595795	missense variant	-	NC_000018.10:g.51078443T>G	1000Genomes
PTCH1	Q13635	p.Ala4Gly	rs540045689	missense variant	-	NC_000009.12:g.95508351G>C	1000Genomes
PTCH1	Q13635	p.Gly5Ala	rs864622762	missense variant	-	NC_000009.12:g.95508348C>G	-
PTCH1	Q13635	p.Glu9Asp	rs1354741081	missense variant	-	NC_000009.12:g.95508335C>A	TOPMed
PTCH1	Q13635	p.Pro10Leu	rs1046883730	missense variant	-	NC_000009.12:g.95508333G>A	TOPMed
PTCH1	Q13635	p.Arg13Gly	rs779791579	missense variant	-	NC_000009.12:g.95508325G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly14Ser	rs1233426743	missense variant	-	NC_000009.12:g.95508322C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Gly15Ser	rs1240000266	missense variant	-	NC_000009.12:g.95508319C>T	TOPMed
PTCH1	Q13635	p.Gly16Ser	rs1057515721	missense variant	-	NC_000009.12:g.95508316C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Gly17Asp	rs1265021279	missense variant	-	NC_000009.12:g.95508312C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Gly17Ser	rs1217844666	missense variant	-	NC_000009.12:g.95508313C>T	TOPMed
PTCH1	Q13635	p.Ser18Gly	rs1199437529	missense variant	-	NC_000009.12:g.95508310T>C	TOPMed
PTCH1	Q13635	p.Ser18Thr	rs750062220	missense variant	-	NC_000009.12:g.95508309C>G	ExAC,gnomAD
PTCH1	Q13635	p.Gly19Val	rs587780708	missense variant	-	NC_000009.12:g.95508306C>A	TOPMed,gnomAD
PTCH1	Q13635	p.Gly19Asp	rs587780708	missense variant	-	NC_000009.12:g.95508306C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Gly19Ser	rs778460384	missense variant	-	NC_000009.12:g.95508307C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Cys20Ser	rs1420016285	missense variant	-	NC_000009.12:g.95508303C>G	TOPMed
PTCH1	Q13635	p.Ile21Leu	rs756724967	missense variant	-	NC_000009.12:g.95508301T>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile21Val	rs756724967	missense variant	-	NC_000009.12:g.95508301T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly22Ala	rs575700967	missense variant	-	NC_000009.12:g.95508297C>G	1000Genomes,ExAC
PTCH1	Q13635	p.Ala23Thr	rs863224654	missense variant	-	NC_000009.12:g.95508295C>T	TOPMed
PTCH1	Q13635	p.Ala23Val	rs761204245	missense variant	-	NC_000009.12:g.95508294G>A	ExAC,gnomAD
PTCH1	Q13635	p.Ala23Asp	rs761204245	missense variant	-	NC_000009.12:g.95508294G>T	ExAC,gnomAD
PTCH1	Q13635	p.Ala23Ser	rs863224654	missense variant	-	NC_000009.12:g.95508295C>A	TOPMed
PTCH1	Q13635	p.Pro24Leu	rs767973616	missense variant	-	NC_000009.12:g.95508291G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro24Thr	rs1338078012	missense variant	-	NC_000009.12:g.95508292G>T	gnomAD
PTCH1	Q13635	p.Pro24Ser	rs1338078012	missense variant	-	NC_000009.12:g.95508292G>A	gnomAD
PTCH1	Q13635	p.Gly25Glu	rs774712511	missense variant	-	NC_000009.12:g.95508288C>T	ExAC,gnomAD
PTCH1	Q13635	p.Gly25Ala	rs774712511	missense variant	-	NC_000009.12:g.95508288C>G	ExAC,gnomAD
PTCH1	Q13635	p.Arg26Leu	rs1181222222	missense variant	-	NC_000009.12:g.95508285C>A	gnomAD
PTCH1	Q13635	p.Arg26Trp	rs1408427240	missense variant	-	NC_000009.12:g.95508286G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Pro27Leu	rs762960154	missense variant	-	NC_000009.12:g.95508282G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro27Ser	rs1245076183	missense variant	-	NC_000009.12:g.95508283G>A	gnomAD
PTCH1	Q13635	p.Ala28Thr	rs1341574540	missense variant	-	NC_000009.12:g.95508280C>T	TOPMed
PTCH1	Q13635	p.Ala28Val	rs1220641430	missense variant	-	NC_000009.12:g.95508279G>A	TOPMed
PTCH1	Q13635	p.Gly31Glu	rs1329331221	missense variant	-	NC_000009.12:g.95508270C>T	gnomAD
PTCH1	Q13635	p.Gly31Arg	rs768512190	missense variant	-	NC_000009.12:g.95508271C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly31GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95508270_95508271insTCTAACT	NCI-TCGA
PTCH1	Q13635	p.Arg32Thr	rs746923835	missense variant	-	NC_000009.12:g.95508267C>G	ExAC,gnomAD
PTCH1	Q13635	p.Arg32Lys	rs746923835	missense variant	-	NC_000009.12:g.95508267C>T	ExAC,gnomAD
PTCH1	Q13635	p.Arg32Gly	rs913603578	missense variant	-	NC_000009.12:g.95508268T>C	gnomAD
PTCH1	Q13635	p.Arg34Thr	rs771847879	missense variant	-	NC_000009.12:g.95508261C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg34Lys	rs771847879	missense variant	-	NC_000009.12:g.95508261C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg35Gln	rs587778627	missense variant	-	NC_000009.12:g.95508258C>T	ExAC,gnomAD
PTCH1	Q13635	p.Arg35Trp	rs1385550193	missense variant	-	NC_000009.12:g.95508259G>A	gnomAD
PTCH1	Q13635	p.Thr36Arg	rs1449765833	missense variant	-	NC_000009.12:g.95508255G>C	TOPMed
PTCH1	Q13635	p.Gly37Arg	rs199976372	missense variant	-	NC_000009.12:g.95508253C>G	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly37Glu	rs748780206	missense variant	-	NC_000009.12:g.95508252C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly37Trp	rs199976372	missense variant	-	NC_000009.12:g.95508253C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly38Val	rs143494325	missense variant	-	NC_000009.12:g.95508249C>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly38Glu	rs143494325	missense variant	-	NC_000009.12:g.95508249C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly38Arg	rs45574039	missense variant	-	NC_000009.12:g.95508250C>G	TOPMed,gnomAD
PTCH1	Q13635	p.Gly38Ala	rs143494325	missense variant	-	NC_000009.12:g.95508249C>G	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly38Arg	rs45574039	missense variant	-	NC_000009.12:g.95508250C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Leu39Pro	rs768063889	missense variant	-	NC_000009.12:g.95508246A>G	ExAC,gnomAD
PTCH1	Q13635	p.Leu39CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95508248C>-	NCI-TCGA
PTCH1	Q13635	p.Arg40His	rs755400723	missense variant	-	NC_000009.12:g.95508243C>T	ExAC,gnomAD
PTCH1	Q13635	p.Arg41Cys	rs1554709496	missense variant	-	NC_000009.12:g.95508241G>A	-
PTCH1	Q13635	p.Arg41Leu	rs1554709493	missense variant	-	NC_000009.12:g.95508240C>A	-
PTCH1	Q13635	p.Ala42Gly	rs1030446889	missense variant	-	NC_000009.12:g.95508237G>C	TOPMed,gnomAD
PTCH1	Q13635	p.Ala43Thr	rs766536174	missense variant	-	NC_000009.12:g.95508235C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala44Thr	rs148863241	missense variant	-	NC_000009.12:g.95508232C>T	ESP,TOPMed,gnomAD
PTCH1	Q13635	p.Ala44Val	rs1219886976	missense variant	-	NC_000009.12:g.95508231G>A	gnomAD
PTCH1	Q13635	p.Pro45Arg	rs587780692	missense variant	-	NC_000009.12:g.95508228G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp46His	rs760670294	missense variant	-	NC_000009.12:g.95508226C>G	ExAC,gnomAD
PTCH1	Q13635	p.Asp46Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95508226C>T	NCI-TCGA
PTCH1	Q13635	p.Arg47Gly	rs138729094	missense variant	-	NC_000009.12:g.95508223G>C	ESP,TOPMed,gnomAD
PTCH1	Q13635	p.Arg47Pro	rs775408408	missense variant	-	NC_000009.12:g.95508222C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg47Leu	rs775408408	missense variant	-	NC_000009.12:g.95508222C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg47Trp	rs138729094	missense variant	-	NC_000009.12:g.95508223G>A	ESP,TOPMed,gnomAD
PTCH1	Q13635	p.Asp48Tyr	rs745685305	missense variant	-	NC_000009.12:g.95508220C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp48Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95508220C>T	NCI-TCGA
PTCH1	Q13635	p.Tyr49Cys	rs774156512	missense variant	-	NC_000009.12:g.95508216T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Tyr49Phe	rs774156512	missense variant	-	NC_000009.12:g.95508216T>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu50Pro	rs1019888019	missense variant	-	NC_000009.12:g.95508213A>G	TOPMed,gnomAD
PTCH1	Q13635	p.Arg52Gln	rs777207639	missense variant	-	NC_000009.12:g.95508207C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg52Pro	rs777207639	missense variant	-	NC_000009.12:g.95508207C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro53Leu	rs372546614	missense variant	-	NC_000009.12:g.95508204G>A	ESP,gnomAD
PTCH1	Q13635	p.Pro53Ser	rs1266988083	missense variant	-	NC_000009.12:g.95508205G>A	gnomAD
PTCH1	Q13635	p.Ser54Thr	rs1008478587	missense variant	-	NC_000009.12:g.95508201C>G	TOPMed
PTCH1	Q13635	p.Ser54Gly	rs1490959369	missense variant	-	NC_000009.12:g.95508202T>C	gnomAD
PTCH1	Q13635	p.Tyr55Phe	rs1205081001	missense variant	-	NC_000009.12:g.95508198T>A	gnomAD
PTCH1	Q13635	p.Cys56Gly	rs1340609158	missense variant	-	NC_000009.12:g.95508196A>C	gnomAD
PTCH1	Q13635	p.Asp57Glu	rs1485701312	missense variant	-	NC_000009.12:g.95508191G>C	TOPMed,gnomAD
PTCH1	Q13635	p.Asp57Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95508193C>T	NCI-TCGA
PTCH1	Q13635	p.Ala58Thr	rs1249138008	missense variant	-	NC_000009.12:g.95508190C>T	gnomAD
PTCH1	Q13635	p.Ala59Ser	rs147738224	missense variant	-	NC_000009.12:g.95508187C>A	TOPMed,gnomAD
PTCH1	Q13635	p.Ala61Gly	rs1296707371	missense variant	-	NC_000009.12:g.95508180G>C	TOPMed
PTCH1	Q13635	p.Ala61Thr	rs150069331	missense variant	-	NC_000009.12:g.95508181C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu63Gln	rs781768965	missense variant	-	NC_000009.12:g.95508175C>G	ExAC,gnomAD
PTCH1	Q13635	p.Glu63Ter	rs781768965	stop gained	-	NC_000009.12:g.95508175C>A	ExAC,gnomAD
PTCH1	Q13635	p.Ser66Phe	rs1025299062	missense variant	-	NC_000009.12:g.95508165G>A	TOPMed
PTCH1	Q13635	p.Ser66Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95508166A>G	NCI-TCGA
PTCH1	Q13635	p.Lys67Glu	rs1396778100	missense variant	-	NC_000009.12:g.95508163T>C	TOPMed
PTCH1	Q13635	p.Gly68Glu	rs757430199	missense variant	-	NC_000009.12:g.95506598C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly68Glu	RCV000761035	missense variant	Craniopharyngioma	NC_000009.12:g.95506598C>T	ClinVar
PTCH1	Q13635	p.Ala70Val	RCV000820241	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506592G>A	ClinVar
PTCH1	Q13635	p.Ala70Thr	RCV000528037	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506593C>T	ClinVar
PTCH1	Q13635	p.Ala70Val	RCV000761112	missense variant	Retinoblastoma (RB1)	NC_000009.12:g.95506592G>A	ClinVar
PTCH1	Q13635	p.Ala70Thr	rs753960393	missense variant	-	NC_000009.12:g.95506593C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala70Val	rs764137082	missense variant	-	NC_000009.12:g.95506592G>A	ExAC,gnomAD
PTCH1	Q13635	p.Thr71Ile	RCV000465294	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506589G>A	ClinVar
PTCH1	Q13635	p.Thr71Ile	rs529720410	missense variant	-	NC_000009.12:g.95506589G>A	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Arg73Gly	rs751511116	missense variant	-	NC_000009.12:g.95506584G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg73Trp	RCV000565327	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506584G>A	ClinVar
PTCH1	Q13635	p.Arg73Trp	RCV000456917	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506584G>A	ClinVar
PTCH1	Q13635	p.Arg73Trp	rs751511116	missense variant	-	NC_000009.12:g.95506584G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro76Ser	rs997156828	missense variant	-	NC_000009.12:g.95506575G>A	TOPMed
PTCH1	Q13635	p.Trp78Ter	RCV000622946	nonsense	Inborn genetic diseases	NC_000009.12:g.95506567C>T	ClinVar
PTCH1	Q13635	p.Trp78Ter	rs1554708787	stop gained	-	NC_000009.12:g.95506567C>T	-
PTCH1	Q13635	p.Leu79Met	RCV000699517	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506566G>T	ClinVar
PTCH1	Q13635	p.Arg80Thr	rs1192030415	missense variant	-	NC_000009.12:g.95506562C>G	gnomAD
PTCH1	Q13635	p.Arg80Lys	rs1192030415	missense variant	-	NC_000009.12:g.95506562C>T	gnomAD
PTCH1	Q13635	p.Phe83Leu	RCV000628417	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506554A>G	ClinVar
PTCH1	Q13635	p.Phe83Leu	rs1263611523	missense variant	-	NC_000009.12:g.95506554A>G	gnomAD
PTCH1	Q13635	p.Arg85Gly	rs1554708772	missense variant	-	NC_000009.12:g.95506548T>C	-
PTCH1	Q13635	p.Arg85Lys	RCV000628361	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506547C>T	ClinVar
PTCH1	Q13635	p.Arg85Lys	RCV000575041	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506547C>T	ClinVar
PTCH1	Q13635	p.Arg85Ter	RCV000628352	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506547_95506548CT[1]	ClinVar
PTCH1	Q13635	p.Arg85Gly	RCV000574728	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506548T>C	ClinVar
PTCH1	Q13635	p.Arg85Lys	rs151310492	missense variant	-	NC_000009.12:g.95506547C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu86Phe	rs769604931	missense variant	-	NC_000009.12:g.95506545G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu87Ter	RCV000205683	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506542_95506543AG[1]	ClinVar
PTCH1	Q13635	p.Leu87Ter	RCV000374909	frameshift	-	NC_000009.12:g.95506542_95506543AG[1]	ClinVar
PTCH1	Q13635	p.Leu87Ter	RCV000628402	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506541_95506542del	ClinVar
PTCH1	Q13635	p.Cys92Tyr	rs1360279030	missense variant	-	NC_000009.12:g.95506526C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Cys92Phe	rs1360279030	missense variant	-	NC_000009.12:g.95506526C>A	TOPMed,gnomAD
PTCH1	Q13635	p.Cys92Ter	RCV000628411	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95506522del	ClinVar
PTCH1	Q13635	p.Tyr93Ter	RCV000205973	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506499_95506533del	ClinVar
PTCH1	Q13635	p.Tyr93Cys	RCV000692295	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506523T>C	ClinVar
PTCH1	Q13635	p.Lys96Glu	rs532713234	missense variant	-	NC_000009.12:g.95506515T>C	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Asn97His	rs768274370	missense variant	-	NC_000009.12:g.95506512T>G	ExAC,gnomAD
PTCH1	Q13635	p.Asn97LysPheSerTerUnkUnk	COSM1464234	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95506510_95506511insT	NCI-TCGA Cosmic
PTCH1	Q13635	p.Asn97ThrPheSerTerUnkUnk	COSM5189016	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95506511T>-	NCI-TCGA Cosmic
PTCH1	Q13635	p.Asn97Ter	RCV000578352	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506517del	ClinVar
PTCH1	Q13635	p.Cys98Ter	RCV000492530	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506507G>T	ClinVar
PTCH1	Q13635	p.Cys98Tyr	RCV000206189	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506508C>T	ClinVar
PTCH1	Q13635	p.Cys98Ter	rs1131690968	stop gained	-	NC_000009.12:g.95506507G>T	-
PTCH1	Q13635	p.Cys98Tyr	rs746435405	missense variant	-	NC_000009.12:g.95506508C>T	ExAC,gnomAD
PTCH1	Q13635	p.Gly99Cys	rs1036074195	missense variant	-	NC_000009.12:g.95506506C>A	TOPMed,gnomAD
PTCH1	Q13635	p.Gly99Asp	rs753884837	missense variant	-	NC_000009.12:g.95506505C>T	ExAC,gnomAD
PTCH1	Q13635	p.Gly99Ter	RCV000700857	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506506del	ClinVar
PTCH1	Q13635	p.Lys100Arg	rs1006475352	missense variant	-	NC_000009.12:g.95506502T>C	TOPMed
PTCH1	Q13635	p.Phe101Leu	COSM1111549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95506498G>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu102Phe	rs199522392	missense variant	-	NC_000009.12:g.95506495C>G	-
PTCH1	Q13635	p.Leu102Phe	RCV000034569	missense variant	-	NC_000009.12:g.95506495C>G	ClinVar
PTCH1	Q13635	p.Val104Gly	rs746275162	missense variant	-	NC_000009.12:g.95506490A>C	ExAC,gnomAD
PTCH1	Q13635	p.Val104Ala	rs746275162	missense variant	-	NC_000009.12:g.95506490A>G	ExAC,gnomAD
PTCH1	Q13635	p.Leu106Arg	rs1131690998	missense variant	-	NC_000009.12:g.95506484A>C	-
PTCH1	Q13635	p.Leu106Arg	RCV000492650	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506484A>C	ClinVar
PTCH1	Q13635	p.Leu106Arg	RCV000703153	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506484A>C	ClinVar
PTCH1	Q13635	p.Ile108Val	rs1338490449	missense variant	-	NC_000009.12:g.95506479T>C	TOPMed
PTCH1	Q13635	p.Ile108Met	rs144182921	missense variant	-	NC_000009.12:g.95506477T>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile108Met	RCV000585211	missense variant	-	NC_000009.12:g.95506477T>C	ClinVar
PTCH1	Q13635	p.Ile108Met	RCV000167969	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506477T>C	ClinVar
PTCH1	Q13635	p.Ile108Val	RCV000561332	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506479T>C	ClinVar
PTCH1	Q13635	p.Phe109Val	COSM1111544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95506476A>C	NCI-TCGA Cosmic
PTCH1	Q13635	p.Gly110Ala	rs1060502284	missense variant	-	NC_000009.12:g.95506472C>G	TOPMed,gnomAD
PTCH1	Q13635	p.Gly110Ala	RCV000460060	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506472C>G	ClinVar
PTCH1	Q13635	p.Ala111Thr	rs777897973	missense variant	-	NC_000009.12:g.95506470C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ala111Thr	RCV000563183	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506470C>T	ClinVar
PTCH1	Q13635	p.Phe112Leu	rs1490482816	missense variant	-	NC_000009.12:g.95506465G>T	TOPMed,gnomAD
PTCH1	Q13635	p.Phe112Leu	rs1490482816	missense variant	-	NC_000009.12:g.95506465G>C	TOPMed,gnomAD
PTCH1	Q13635	p.Ala113Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95506464C>T	NCI-TCGA
PTCH1	Q13635	p.Val114Ala	rs752665265	missense variant	-	NC_000009.12:g.95506460A>G	ExAC,gnomAD
PTCH1	Q13635	p.Gly115Ala	rs544052043	missense variant	-	NC_000009.12:g.95506457C>G	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Gly115Ter	RCV000175570	nonsense	-	NC_000009.12:g.95506458C>A	ClinVar
PTCH1	Q13635	p.Gly115Ter	rs794727242	stop gained	-	NC_000009.12:g.95506458C>A	-
PTCH1	Q13635	p.Lys117Arg	rs1234085004	missense variant	-	NC_000009.12:g.95506451T>C	gnomAD
PTCH1	Q13635	p.Ala119Thr	rs765106589	missense variant	-	NC_000009.12:g.95506446C>T	ExAC,gnomAD
PTCH1	Q13635	p.Asn120Thr	rs1370527214	missense variant	-	NC_000009.12:g.95506442T>G	gnomAD
PTCH1	Q13635	p.Leu121Pro	rs1421018642	missense variant	-	NC_000009.12:g.95506439A>G	gnomAD
PTCH1	Q13635	p.Leu121Phe	rs776424978	missense variant	-	NC_000009.12:g.95506440G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu121Val	rs776424978	missense variant	-	NC_000009.12:g.95506440G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu121Phe	RCV000532806	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506440G>A	ClinVar
PTCH1	Q13635	p.Glu122Lys	rs374150356	missense variant	-	NC_000009.12:g.95506437C>T	ESP
PTCH1	Q13635	p.Glu122Asp	rs1479871006	missense variant	-	NC_000009.12:g.95506435C>G	gnomAD
PTCH1	Q13635	p.Glu122Asp	RCV000546788	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506435C>G	ClinVar
PTCH1	Q13635	p.Asn124Lys	rs763779667	missense variant	-	NC_000009.12:g.95506429G>C	ExAC,gnomAD
PTCH1	Q13635	p.Asn124Ter	RCV000492411	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506414_95506430del	ClinVar
PTCH1	Q13635	p.Asn124Lys	RCV000531263	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506429G>C	ClinVar
PTCH1	Q13635	p.Val125Ala	rs1340143606	missense variant	-	NC_000009.12:g.95506427A>G	gnomAD
PTCH1	Q13635	p.Val125Leu	rs760253622	missense variant	-	NC_000009.12:g.95506428C>G	ExAC,gnomAD
PTCH1	Q13635	p.Val125Met	rs760253622	missense variant	-	NC_000009.12:g.95506428C>T	ExAC,gnomAD
PTCH1	Q13635	p.Glu127Lys	rs774822170	missense variant	-	NC_000009.12:g.95506422C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu127Asp	rs1232294231	missense variant	-	NC_000009.12:g.95506420C>G	TOPMed,gnomAD
PTCH1	Q13635	p.Val130Met	RCV000198695	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506413C>T	ClinVar
PTCH1	Q13635	p.Val130Met	RCV000566926	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506413C>T	ClinVar
PTCH1	Q13635	p.Val130Met	rs746339472	missense variant	-	NC_000009.12:g.95506413C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu131Lys	rs1321623220	missense variant	-	NC_000009.12:g.95506410C>T	gnomAD
PTCH1	Q13635	p.Glu131Gly	rs1285396732	missense variant	-	NC_000009.12:g.95506409T>C	gnomAD
PTCH1	Q13635	p.Gly134Glu	rs779013862	missense variant	-	NC_000009.12:g.95485868C>T	ExAC,gnomAD
PTCH1	Q13635	p.Arg135Ter	RCV000687492	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95485866G>A	ClinVar
PTCH1	Q13635	p.Arg135Ter	RCV000760320	nonsense	-	NC_000009.12:g.95485866G>A	ClinVar
PTCH1	Q13635	p.Arg135Gln	rs375628555	missense variant	-	NC_000009.12:g.95485865C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg135Ter	rs1131690986	stop gained	-	NC_000009.12:g.95485866G>A	-
PTCH1	Q13635	p.Arg135Gln	RCV000204813	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485865C>T	ClinVar
PTCH1	Q13635	p.Arg135Ter	RCV000492613	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485866G>A	ClinVar
PTCH1	Q13635	p.Val136Leu	rs1240746395	missense variant	-	NC_000009.12:g.95485863C>A	gnomAD
PTCH1	Q13635	p.Ser137Ter	RCV000681475	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95485862dup	ClinVar
PTCH1	Q13635	p.Arg138His	RCV000545328	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485856C>T	ClinVar
PTCH1	Q13635	p.Arg138Cys	rs139535966	missense variant	-	NC_000009.12:g.95485857G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg138His	rs763774051	missense variant	-	NC_000009.12:g.95485856C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg138Cys	RCV000697497	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485857G>A	ClinVar
PTCH1	Q13635	p.Arg138Cys	RCV000567855	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485857G>A	ClinVar
PTCH1	Q13635	p.Arg138Cys	RCV000764851	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95485857G>A	ClinVar
PTCH1	Q13635	p.Leu140Ser	rs1554702197	missense variant	-	NC_000009.12:g.95485850A>G	-
PTCH1	Q13635	p.Leu140Ser	RCV000564718	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485850A>G	ClinVar
PTCH1	Q13635	p.Tyr142LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95485844T>-	NCI-TCGA
PTCH1	Q13635	p.Arg144Cys	RCV000123036	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485839G>A	ClinVar
PTCH1	Q13635	p.Arg144His	rs1316474105	missense variant	-	NC_000009.12:g.95485838C>T	gnomAD
PTCH1	Q13635	p.Arg144Cys	rs587780705	missense variant	-	NC_000009.12:g.95485839G>A	ExAC,gnomAD
PTCH1	Q13635	p.Arg144His	RCV000698113	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485838C>T	ClinVar
PTCH1	Q13635	p.Arg144Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95485838C>A	NCI-TCGA
PTCH1	Q13635	p.Gln145Ter	rs1554702186	stop gained	-	NC_000009.12:g.95485836G>A	-
PTCH1	Q13635	p.Gln145Ter	RCV000628382	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95485836G>A	ClinVar
PTCH1	Q13635	p.Lys146Asn	rs1396282545	missense variant	-	NC_000009.12:g.95485831C>A	gnomAD
PTCH1	Q13635	p.Ile147Val	RCV000691350	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485830T>C	ClinVar
PTCH1	Q13635	p.Glu150Ter	rs1344258746	stop gained	-	NC_000009.12:g.95485821C>A	TOPMed
PTCH1	Q13635	p.Glu150Lys	rs1344258746	missense variant	-	NC_000009.12:g.95485821C>T	TOPMed
PTCH1	Q13635	p.Glu150Ter	RCV000628407	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95485821C>A	ClinVar
PTCH1	Q13635	p.Ala151Thr	rs751024812	missense variant	-	NC_000009.12:g.95485818C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala151Ser	RCV000554128	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485818C>A	ClinVar
PTCH1	Q13635	p.Ala151Ser	rs751024812	missense variant	-	NC_000009.12:g.95485818C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Met152Ile	rs199757908	missense variant	-	NC_000009.12:g.95485813C>T	1000Genomes
PTCH1	Q13635	p.Met152Ter	RCV000465139	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95485815_95485816del	ClinVar
PTCH1	Q13635	p.Met152Val	rs766905791	missense variant	-	NC_000009.12:g.95485815T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asn154Ser	rs1302474403	missense variant	-	NC_000009.12:g.95485808T>C	gnomAD
PTCH1	Q13635	p.Pro155Ser	rs369105527	missense variant	-	NC_000009.12:g.95485806G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro155Ser	RCV000467509	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485806G>A	ClinVar
PTCH1	Q13635	p.Gln156His	rs200729445	missense variant	-	NC_000009.12:g.95485801T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile159Val	rs1060502288	missense variant	-	NC_000009.12:g.95485794T>C	-
PTCH1	Q13635	p.Ile159Val	RCV000477034	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485794T>C	ClinVar
PTCH1	Q13635	p.Gln160Arg	RCV000469226	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485790T>C	ClinVar
PTCH1	Q13635	p.Gln160Arg	rs1060502267	missense variant	-	NC_000009.12:g.95485790T>C	-
PTCH1	Q13635	p.Thr161Ter	RCV000492759	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485781_95485790del	ClinVar
PTCH1	Q13635	p.Pro162Ala	rs1165518590	missense variant	-	NC_000009.12:g.95485785G>C	gnomAD
PTCH1	Q13635	p.Pro162Arg	rs770046324	missense variant	-	NC_000009.12:g.95485784G>C	ExAC,gnomAD
PTCH1	Q13635	p.Lys163Thr	rs56406491	missense variant	-	NC_000009.12:g.95485781T>G	ExAC,gnomAD
PTCH1	Q13635	p.Lys163Arg	rs56406491	missense variant	-	NC_000009.12:g.95485781T>C	ExAC,gnomAD
PTCH1	Q13635	p.Glu164Ter	RCV000486502	nonsense	-	NC_000009.12:g.95485780_95485781insAT	ClinVar
PTCH1	Q13635	p.Glu165Lys	rs371982458	missense variant	-	NC_000009.12:g.95485776C>T	ESP,TOPMed
PTCH1	Q13635	p.Ala167Asp	RCV000123039	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485769G>T	ClinVar
PTCH1	Q13635	p.Ala167Asp	RCV000570937	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485769G>T	ClinVar
PTCH1	Q13635	p.Ala167Asp	rs587780707	missense variant	-	NC_000009.12:g.95485769G>T	gnomAD
PTCH1	Q13635	p.Ala167Thr	rs149547604	missense variant	-	NC_000009.12:g.95485770C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala167Thr	RCV000628337	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485770C>T	ClinVar
PTCH1	Q13635	p.Val169Ile	rs1220933796	missense variant	-	NC_000009.12:g.95485764C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Thr171Ile	rs1554702106	missense variant	-	NC_000009.12:g.95485757G>A	-
PTCH1	Q13635	p.Thr171Ile	RCV000628355	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485757G>A	ClinVar
PTCH1	Q13635	p.Thr172Ala	rs1244945859	missense variant	-	NC_000009.12:g.95485755T>C	gnomAD
PTCH1	Q13635	p.Glu173Gly	rs1306400694	missense variant	-	NC_000009.12:g.95485751T>C	gnomAD
PTCH1	Q13635	p.Ala174Thr	rs587778633	missense variant	-	NC_000009.12:g.95485749C>T	-
PTCH1	Q13635	p.Ala174Val	RCV000210888	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485748G>A	ClinVar
PTCH1	Q13635	p.Ala174Val	rs772368023	missense variant	-	NC_000009.12:g.95485748G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Ala174Thr	RCV000121904	missense variant	-	NC_000009.12:g.95485749C>T	ClinVar
PTCH1	Q13635	p.Leu175Pro	VAR_007843	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Leu176Ile	rs2066834	missense variant	-	NC_000009.12:g.95485743G>T	NCI-TCGA
PTCH1	Q13635	p.Gln177Arg	rs1307710091	missense variant	-	NC_000009.12:g.95485739T>C	TOPMed
PTCH1	Q13635	p.Asp180His	rs1554702067	missense variant	-	NC_000009.12:g.95485731C>G	-
PTCH1	Q13635	p.Asp180His	RCV000531688	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485731C>G	ClinVar
PTCH1	Q13635	p.Ser181Leu	rs868350953	missense variant	-	NC_000009.12:g.95485727G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Ala182Val	rs567721919	missense variant	-	NC_000009.12:g.95485724G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala182Val	RCV000556825	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485724G>A	ClinVar
PTCH1	Q13635	p.Ala182Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95485725C>T	NCI-TCGA
PTCH1	Q13635	p.Gln184Arg	rs755867972	missense variant	-	NC_000009.12:g.95485718T>C	ExAC,gnomAD
PTCH1	Q13635	p.Gln184His	rs369893129	missense variant	-	NC_000009.12:g.95485717C>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gln184His	RCV000197270	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485717C>A	ClinVar
PTCH1	Q13635	p.Ala185Val	rs1276503562	missense variant	-	NC_000009.12:g.95485715G>A	TOPMed
PTCH1	Q13635	p.Ala185Pro	rs780733265	missense variant	-	NC_000009.12:g.95485716C>G	ExAC,gnomAD
PTCH1	Q13635	p.Ser186Gly	RCV000704400	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485713T>C	ClinVar
PTCH1	Q13635	p.Arg187Cys	rs1554702047	missense variant	-	NC_000009.12:g.95485710G>A	-
PTCH1	Q13635	p.Arg187His	rs138034434	missense variant	-	NC_000009.12:g.95485709C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg187Cys	RCV000628341	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485710G>A	ClinVar
PTCH1	Q13635	p.His189Arg	rs751113638	missense variant	-	NC_000009.12:g.95485703T>C	ExAC,gnomAD
PTCH1	Q13635	p.Tyr191Ter	rs1249050389	stop gained	-	NC_000009.12:g.95485696G>C	gnomAD
PTCH1	Q13635	p.Tyr191His	rs1480028040	missense variant	-	NC_000009.12:g.95485698A>G	gnomAD
PTCH1	Q13635	p.Met192Val	rs763513784	missense variant	-	NC_000009.12:g.95485695T>C	ExAC,gnomAD
PTCH1	Q13635	p.Met192Ile	rs1318117498	missense variant	-	NC_000009.12:g.95485693C>G	gnomAD
PTCH1	Q13635	p.Tyr193Ter	RCV000701045	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95485690G>T	ClinVar
PTCH1	Q13635	p.Arg195Thr	rs1554702009	missense variant	-	NC_000009.12:g.95485685C>G	-
PTCH1	Q13635	p.Arg195Thr	RCV000545639	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485685C>G	ClinVar
PTCH1	Q13635	p.Gln196Arg	rs1318370560	missense variant	-	NC_000009.12:g.95482201T>C	TOPMed
PTCH1	Q13635	p.Trp197Arg	rs1312950307	missense variant	-	NC_000009.12:g.95482199A>G	gnomAD
PTCH1	Q13635	p.Trp197Ter	rs1064793922	stop gained	-	NC_000009.12:g.95482198C>T	gnomAD
PTCH1	Q13635	p.Trp197Leu	rs1064793922	missense variant	-	NC_000009.12:g.95482198C>A	gnomAD
PTCH1	Q13635	p.Trp197Arg	RCV000534590	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482199A>G	ClinVar
PTCH1	Q13635	p.Trp197Ter	RCV000478704	nonsense	-	NC_000009.12:g.95482198C>T	ClinVar
PTCH1	Q13635	p.Trp197Ter	RCV000551617	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95482198C>T	ClinVar
PTCH1	Q13635	p.Leu199Trp	RCV000229788	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482192A>C	ClinVar
PTCH1	Q13635	p.Leu199Trp	rs767791358	missense variant	-	NC_000009.12:g.95482192A>C	ExAC,gnomAD
PTCH1	Q13635	p.His201Tyr	COSM3909237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95482187G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.His201Ter	RCV000535792	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95482186del	ClinVar
PTCH1	Q13635	p.Leu202Phe	rs769719333	missense variant	-	NC_000009.12:g.95482182C>A	ExAC,gnomAD
PTCH1	Q13635	p.Leu202Ter	RCV000483470	frameshift	-	NC_000009.12:g.95482182del	ClinVar
PTCH1	Q13635	p.Cys203Tyr	rs1261920867	missense variant	-	NC_000009.12:g.95482180C>T	TOPMed
PTCH1	Q13635	p.Cys203Tyr	RCV000526834	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482180C>T	ClinVar
PTCH1	Q13635	p.Tyr204Ter	RCV000197615	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95482176G>C	ClinVar
PTCH1	Q13635	p.Tyr204Ter	rs863224486	stop gained	-	NC_000009.12:g.95482176G>C	-
PTCH1	Q13635	p.Lys205Gln	rs1554700724	missense variant	-	NC_000009.12:g.95482175T>G	-
PTCH1	Q13635	p.Lys205Ter	RCV000628377	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95482175del	ClinVar
PTCH1	Q13635	p.Lys205Gln	RCV000575113	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95482175T>G	ClinVar
PTCH1	Q13635	p.Ser206Pro	rs1299359988	missense variant	-	NC_000009.12:g.95482172A>G	gnomAD
PTCH1	Q13635	p.Glu208Ter	COSM1111539	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95482166C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu209Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95482163G>T	NCI-TCGA
PTCH1	Q13635	p.Ile210Ter	RCV000703469	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95482162del	ClinVar
PTCH1	Q13635	p.Thr211Ala	rs776773031	missense variant	-	NC_000009.12:g.95482157T>C	ExAC,gnomAD
PTCH1	Q13635	p.Glu212Ter	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95482154C>A	NCI-TCGA
PTCH1	Q13635	p.Tyr215Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95482144T>G	NCI-TCGA
PTCH1	Q13635	p.Met216Val	RCV000123042	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482142T>C	ClinVar
PTCH1	Q13635	p.Met216Val	rs587780709	missense variant	-	NC_000009.12:g.95482142T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Met216Leu	rs587780709	missense variant	-	NC_000009.12:g.95482142T>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp217Asn	rs780378700	missense variant	-	NC_000009.12:g.95482139C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp217Tyr	rs780378700	missense variant	-	NC_000009.12:g.95482139C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gln218Ter	RCV000704357	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95482136dup	ClinVar
PTCH1	Q13635	p.Ile219Met	rs1425544626	missense variant	-	NC_000009.12:g.95482038T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Ile219Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95482040T>A	NCI-TCGA
PTCH1	Q13635	p.Ile220Val	rs768776930	missense variant	-	NC_000009.12:g.95482037T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile220Met	RCV000762566	missense variant	-	NC_000009.12:g.95482035T>C	ClinVar
PTCH1	Q13635	p.Glu221Ter	rs1554700647	stop gained	-	NC_000009.12:g.95482034C>A	-
PTCH1	Q13635	p.Glu221Ter	RCV000657639	nonsense	-	NC_000009.12:g.95482034C>A	ClinVar
PTCH1	Q13635	p.Tyr222Ter	RCV000199837	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95482029A>T	ClinVar
PTCH1	Q13635	p.Tyr222Ter	RCV000492744	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95482029_95482030AT[1]	ClinVar
PTCH1	Q13635	p.Tyr222Ter	rs863224487	stop gained	-	NC_000009.12:g.95482029A>T	-
PTCH1	Q13635	p.Leu223Ile	rs1266754583	missense variant	-	NC_000009.12:g.95482028G>T	gnomAD
PTCH1	Q13635	p.Tyr224Phe	rs747205016	missense variant	-	NC_000009.12:g.95482024T>A	ExAC,gnomAD
PTCH1	Q13635	p.Ile228Leu	COSM3909233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95482013T>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.Thr230Ile	rs1554700630	missense variant	-	NC_000009.12:g.95482006G>A	-
PTCH1	Q13635	p.Thr230Ile	RCV000628428	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482006G>A	ClinVar
PTCH1	Q13635	p.Thr230Pro	VAR_020845	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Pro231Leu	rs1272320675	missense variant	-	NC_000009.12:g.95482003G>A	gnomAD
PTCH1	Q13635	p.Pro231Ser	RCV000690830	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482004G>A	ClinVar
PTCH1	Q13635	p.Asp233Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95481996G>T	NCI-TCGA
PTCH1	Q13635	p.Asp233Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95481997T>C	NCI-TCGA
PTCH1	Q13635	p.Cys234Phe	rs1060502299	missense variant	-	NC_000009.12:g.95481994C>A	-
PTCH1	Q13635	p.Cys234Phe	RCV000472872	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95481994C>A	ClinVar
PTCH1	Q13635	p.Trp236Ter	rs1060502287	stop gained	-	NC_000009.12:g.95481987C>T	-
PTCH1	Q13635	p.Trp236Ter	RCV000467813	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95481987C>T	ClinVar
PTCH1	Q13635	p.Ala239Ter	RCV000492205	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95481983dup	ClinVar
PTCH1	Q13635	p.Ala239Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95481979G>A	NCI-TCGA
PTCH1	Q13635	p.Gln242Glu	rs376353501	missense variant	-	NC_000009.12:g.95481971G>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser243Phe	rs141265422	missense variant	-	NC_000009.12:g.95481967G>A	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Ser243Pro	rs372422922	missense variant	-	NC_000009.12:g.95481968A>G	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser243Pro	RCV000205559	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95481968A>G	ClinVar
PTCH1	Q13635	p.Gly244Arg	rs771464575	missense variant	-	NC_000009.12:g.95481965C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ala246Thr	rs1441758390	missense variant	-	NC_000009.12:g.95481959C>T	TOPMed
PTCH1	Q13635	p.Tyr247Ter	rs1060502281	stop gained	-	NC_000009.12:g.95481954G>T	-
PTCH1	Q13635	p.Tyr247Ter	RCV000492338	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95481954G>T	ClinVar
PTCH1	Q13635	p.Tyr247Ter	RCV000471602	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95481954G>T	ClinVar
PTCH1	Q13635	p.Lys251Arg	rs754650075	missense variant	-	NC_000009.12:g.95480583T>C	ExAC,gnomAD
PTCH1	Q13635	p.Pro252Ala	rs751223274	missense variant	-	NC_000009.12:g.95480581G>C	ExAC,gnomAD
PTCH1	Q13635	p.Pro252Arg	RCV000540755	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480580G>C	ClinVar
PTCH1	Q13635	p.Pro252Arg	rs1554700016	missense variant	-	NC_000009.12:g.95480580G>C	-
PTCH1	Q13635	p.Pro253Ser	COSM3927298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480578G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Pro253Leu	COSM6116540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480577G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu254Ser	rs1301828736	missense variant	-	NC_000009.12:g.95480574A>G	TOPMed
PTCH1	Q13635	p.Arg255Gln	rs779870576	missense variant	-	NC_000009.12:g.95480571C>T	ExAC,gnomAD
PTCH1	Q13635	p.Arg255Gln	RCV000694094	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480571C>T	ClinVar
PTCH1	Q13635	p.Arg255Ter	RCV000697321	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480568del	ClinVar
PTCH1	Q13635	p.Arg255Leu	rs779870576	missense variant	-	NC_000009.12:g.95480571C>A	ExAC,gnomAD
PTCH1	Q13635	p.Arg255Trp	rs925067209	missense variant	-	NC_000009.12:g.95480572G>A	gnomAD
PTCH1	Q13635	p.Trp256Ter	rs1554700010	stop gained	-	NC_000009.12:g.95480568C>T	-
PTCH1	Q13635	p.Trp256Ter	RCV000628399	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480568C>T	ClinVar
PTCH1	Q13635	p.Trp256Cys	COSM6116544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480567C>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.Thr257Ile	rs758223838	missense variant	-	NC_000009.12:g.95480565G>A	ExAC,gnomAD
PTCH1	Q13635	p.Asp260His	rs765174527	missense variant	-	NC_000009.12:g.95480557C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp260Asn	rs765174527	missense variant	-	NC_000009.12:g.95480557C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp260Ala	rs368102115	missense variant	-	NC_000009.12:g.95480556T>G	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp260Asn	RCV000560942	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480557C>T	ClinVar
PTCH1	Q13635	p.Leu262Ser	rs1318134628	missense variant	-	NC_000009.12:g.95480550A>G	TOPMed
PTCH1	Q13635	p.Leu268Phe	rs1421389999	missense variant	-	NC_000009.12:g.95480531T>G	gnomAD
PTCH1	Q13635	p.Lys269Asn	COSM1111529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480528C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Lys269Ter	RCV000492367	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480528_95480531del	ClinVar
PTCH1	Q13635	p.Lys269Ter	RCV000628383	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95480528_95480531del	ClinVar
PTCH1	Q13635	p.Ile271Val	rs759781538	missense variant	-	NC_000009.12:g.95480524T>C	ExAC,gnomAD
PTCH1	Q13635	p.Asn272Asp	rs774476280	missense variant	-	NC_000009.12:g.95480521T>C	ExAC,gnomAD
PTCH1	Q13635	p.Asn272Ser	rs771286385	missense variant	-	NC_000009.12:g.95480520T>C	ExAC,gnomAD
PTCH1	Q13635	p.Tyr273Ter	RCV000657260	frameshift	-	NC_000009.12:g.95480515_95480518delinsATC	ClinVar
PTCH1	Q13635	p.Val275Ter	RCV000657376	frameshift	-	NC_000009.12:g.95480514del	ClinVar
PTCH1	Q13635	p.Trp278Gly	rs1219459429	missense variant	-	NC_000009.12:g.95480503A>C	gnomAD
PTCH1	Q13635	p.Trp278Ter	COSM29053	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95480502C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Met281Thr	RCV000678313	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480493A>G	ClinVar
PTCH1	Q13635	p.Met281Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95480492C>T	NCI-TCGA
PTCH1	Q13635	p.Leu282Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95480491G>C	NCI-TCGA
PTCH1	Q13635	p.Glu286Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95480479C>T	NCI-TCGA
PTCH1	Q13635	p.Gly288Val	rs1178742053	missense variant	-	NC_000009.12:g.95480472C>A	gnomAD
PTCH1	Q13635	p.His289Arg	rs1221172962	missense variant	-	NC_000009.12:g.95480469T>C	gnomAD
PTCH1	Q13635	p.Gly290Asp	RCV000204718	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480466C>T	ClinVar
PTCH1	Q13635	p.Gly290Asp	rs864622130	missense variant	-	NC_000009.12:g.95480466C>T	-
PTCH1	Q13635	p.Gly290Ter	RCV000686206	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480462del	ClinVar
PTCH1	Q13635	p.Tyr291Ter	RCV000705881	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480462G>C	ClinVar
PTCH1	Q13635	p.Met292Ile	RCV000529527	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480459C>T	ClinVar
PTCH1	Q13635	p.Met292Arg	rs748727674	missense variant	-	NC_000009.12:g.95480460A>C	ExAC,gnomAD
PTCH1	Q13635	p.Met292Thr	rs748727674	missense variant	-	NC_000009.12:g.95480460A>G	ExAC,gnomAD
PTCH1	Q13635	p.Met292Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95480461T>C	NCI-TCGA
PTCH1	Q13635	p.Met292Ile	rs776187586	missense variant	-	NC_000009.12:g.95480459C>T	ExAC,gnomAD
PTCH1	Q13635	p.Asp293Ala	rs768095469	missense variant	-	NC_000009.12:g.95480457T>G	ExAC,gnomAD
PTCH1	Q13635	p.Asp293Gly	rs768095469	missense variant	-	NC_000009.12:g.95480457T>C	ExAC,gnomAD
PTCH1	Q13635	p.Asp293Ter	RCV000492082	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480450_95480460del	ClinVar
PTCH1	Q13635	p.Arg294His	RCV000227329	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480454C>T	ClinVar
PTCH1	Q13635	p.Arg294Pro	rs878853859	missense variant	-	NC_000009.12:g.95480454C>G	gnomAD
PTCH1	Q13635	p.Arg294His	rs878853859	missense variant	-	NC_000009.12:g.95480454C>T	gnomAD
PTCH1	Q13635	p.Arg294Pro	RCV000231361	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480454C>G	ClinVar
PTCH1	Q13635	p.Pro295Leu	rs370755364	missense variant	-	NC_000009.12:g.95480451G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro295Leu	RCV000572914	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480451G>A	ClinVar
PTCH1	Q13635	p.Cys296Ter	RCV000492174	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480449del	ClinVar
PTCH1	Q13635	p.Cys296Ter	RCV000819395	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95480449del	ClinVar
PTCH1	Q13635	p.Asn298Ser	rs1456514392	missense variant	-	NC_000009.12:g.95480442T>C	gnomAD
PTCH1	Q13635	p.Pro299Ser	RCV000233022	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480440G>A	ClinVar
PTCH1	Q13635	p.Pro299Leu	RCV000477511	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480439G>A	ClinVar
PTCH1	Q13635	p.Pro299Ser	rs745669231	missense variant	-	NC_000009.12:g.95480440G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro299Leu	rs141939274	missense variant	-	NC_000009.12:g.95480439G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala300Val	rs1421967825	missense variant	-	NC_000009.12:g.95480436G>A	gnomAD
PTCH1	Q13635	p.Asp301Asn	RCV000628378	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480434C>T	ClinVar
PTCH1	Q13635	p.Asp301Asn	rs767601899	missense variant	-	NC_000009.12:g.95480434C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp301Tyr	rs767601899	missense variant	-	NC_000009.12:g.95480434C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp301Asn	RCV000764850	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480434C>T	ClinVar
PTCH1	Q13635	p.Pro302Arg	rs1487227339	missense variant	-	NC_000009.12:g.95480430G>C	TOPMed,gnomAD
PTCH1	Q13635	p.Pro302Ser	rs1197814180	missense variant	-	NC_000009.12:g.95480431G>A	gnomAD
PTCH1	Q13635	p.Pro302Arg	RCV000628415	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480430G>C	ClinVar
PTCH1	Q13635	p.Asp303His	rs1172719429	missense variant	-	NC_000009.12:g.95480428C>G	TOPMed
PTCH1	Q13635	p.Asp303His	RCV000762565	missense variant	-	NC_000009.12:g.95480428C>G	ClinVar
PTCH1	Q13635	p.Asp303His	RCV000542244	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480428C>G	ClinVar
PTCH1	Q13635	p.Ala306Thr	RCV000531012	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480419C>T	ClinVar
PTCH1	Q13635	p.Ala306Thr	rs547776340	missense variant	-	NC_000009.12:g.95480419C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr307Ile	rs1255733467	missense variant	-	NC_000009.12:g.95480415G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Ala308Ter	RCV000543470	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95480414dup	ClinVar
PTCH1	Q13635	p.Ala308Thr	rs773704443	missense variant	-	NC_000009.12:g.95480413C>T	ExAC,gnomAD
PTCH1	Q13635	p.Pro309Leu	rs762382517	missense variant	-	NC_000009.12:g.95480409G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro309Leu	RCV000560764	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480409G>A	ClinVar
PTCH1	Q13635	p.Pro309Arg	rs762382517	missense variant	-	NC_000009.12:g.95480409G>C	ExAC,gnomAD
PTCH1	Q13635	p.Asn310His	rs777039758	missense variant	-	NC_000009.12:g.95480407T>G	ExAC,gnomAD
PTCH1	Q13635	p.Lys311Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95480403T>G	NCI-TCGA
PTCH1	Q13635	p.Asn312Lys	COSM3909229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480399A>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ser313Ter	RCV000698999	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480397G>C	ClinVar
PTCH1	Q13635	p.Lys315Thr	rs746517321	missense variant	-	NC_000009.12:g.95480391T>G	ExAC,gnomAD
PTCH1	Q13635	p.Lys315Glu	RCV000700234	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480392T>C	ClinVar
PTCH1	Q13635	p.Pro316His	rs143813198	missense variant	-	NC_000009.12:g.95480089G>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro316Arg	rs143813198	missense variant	-	NC_000009.12:g.95480089G>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu317Val	rs1380199153	missense variant	-	NC_000009.12:g.95480087G>C	TOPMed
PTCH1	Q13635	p.Leu317Phe	RCV000764849	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95480087G>A	ClinVar
PTCH1	Q13635	p.Leu317Phe	RCV000701203	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480087G>A	ClinVar
PTCH1	Q13635	p.Met319Val	rs1438545679	missense variant	-	NC_000009.12:g.95480081T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Met319Thr	rs867609005	missense variant	-	NC_000009.12:g.95480080A>G	gnomAD
PTCH1	Q13635	p.Met319Val	RCV000628329	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480081T>C	ClinVar
PTCH1	Q13635	p.Met319IlePheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95480079_95480080insA	NCI-TCGA
PTCH1	Q13635	p.Ala320Ser	rs1554699658	missense variant	-	NC_000009.12:g.95480078C>A	-
PTCH1	Q13635	p.Ala320Ser	RCV000628367	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480078C>A	ClinVar
PTCH1	Q13635	p.Gly326Ala	COSM462360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480059C>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.His328Leu	rs1484111496	missense variant	-	NC_000009.12:g.95480053T>A	gnomAD
PTCH1	Q13635	p.His328Tyr	rs1225922358	missense variant	-	NC_000009.12:g.95480054G>A	TOPMed
PTCH1	Q13635	p.Arg332Thr	RCV000696299	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480041C>G	ClinVar
PTCH1	Q13635	p.Arg332Gly	rs1256525885	missense variant	-	NC_000009.12:g.95480042T>C	gnomAD
PTCH1	Q13635	p.Arg332Ter	COSM144244	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95480042T>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Lys333Arg	rs1238175144	missense variant	-	NC_000009.12:g.95480038T>C	gnomAD
PTCH1	Q13635	p.Tyr334Ter	RCV000492509	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480026_95480035del	ClinVar
PTCH1	Q13635	p.Met335Thr	rs749049752	missense variant	-	NC_000009.12:g.95480032A>G	ExAC,gnomAD
PTCH1	Q13635	p.Met335Ile	COSM1111519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480031C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.His336Asn	rs1446713476	missense variant	-	NC_000009.12:g.95480030G>T	TOPMed
PTCH1	Q13635	p.Glu339Gly	rs777696239	missense variant	-	NC_000009.12:g.95480020T>C	ExAC,gnomAD
PTCH1	Q13635	p.Glu339Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95480021C>G	NCI-TCGA
PTCH1	Q13635	p.Glu340Gly	rs769612442	missense variant	-	NC_000009.12:g.95480017T>C	ExAC,gnomAD
PTCH1	Q13635	p.Leu341Val	rs780256480	missense variant	-	NC_000009.12:g.95480015A>C	ExAC
PTCH1	Q13635	p.Leu341Ter	RCV000492369	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480014A>T	ClinVar
PTCH1	Q13635	p.Leu341Ter	rs1131690970	stop gained	-	NC_000009.12:g.95480014A>T	-
PTCH1	Q13635	p.Leu341Phe	COSM48712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480013C>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ile342Leu	rs1245184042	missense variant	-	NC_000009.12:g.95480012T>G	TOPMed
PTCH1	Q13635	p.Val343Ala	RCV000761122	missense variant	Retinoblastoma (RB1)	NC_000009.12:g.95480008A>G	ClinVar
PTCH1	Q13635	p.Val343Ala	rs962982192	missense variant	-	NC_000009.12:g.95480008A>G	TOPMed
PTCH1	Q13635	p.Val343Ala	RCV000812856	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480008A>G	ClinVar
PTCH1	Q13635	p.Gly344Asp	rs758585782	missense variant	-	NC_000009.12:g.95480005C>T	ExAC,gnomAD
PTCH1	Q13635	p.Gly344Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95480006C>T	NCI-TCGA
PTCH1	Q13635	p.Gly345Ser	rs750628569	missense variant	-	NC_000009.12:g.95480003C>T	ExAC,gnomAD
PTCH1	Q13635	p.Gly345Asp	rs1288810300	missense variant	-	NC_000009.12:g.95480002C>T	gnomAD
PTCH1	Q13635	p.Val347Phe	rs1060502279	missense variant	-	NC_000009.12:g.95479997C>A	TOPMed,gnomAD
PTCH1	Q13635	p.Val347Leu	rs1060502279	missense variant	-	NC_000009.12:g.95479997C>G	TOPMed,gnomAD
PTCH1	Q13635	p.Val347Phe	RCV000456320	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479997C>A	ClinVar
PTCH1	Q13635	p.Val347Leu	RCV000458347	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479997C>G	ClinVar
PTCH1	Q13635	p.Lys348Arg	rs1476325987	missense variant	-	NC_000009.12:g.95479993T>C	gnomAD
PTCH1	Q13635	p.Ser350Asn	RCV000355034	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95479987C>T	ClinVar
PTCH1	Q13635	p.Ser350Asn	RCV000297800	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479987C>T	ClinVar
PTCH1	Q13635	p.Ser350Asn	rs779294007	missense variant	-	NC_000009.12:g.95479987C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr351Ser	rs1159971759	missense variant	-	NC_000009.12:g.95479984G>C	gnomAD
PTCH1	Q13635	p.Lys353Arg	rs757579309	missense variant	-	NC_000009.12:g.95479978T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Lys353Arg	RCV000564867	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95479978T>C	ClinVar
PTCH1	Q13635	p.Lys353Arg	RCV000549279	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479978T>C	ClinVar
PTCH1	Q13635	p.Val355Ile	RCV000628405	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479973C>T	ClinVar
PTCH1	Q13635	p.Val355Ile	rs555332902	missense variant	-	NC_000009.12:g.95479973C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser356Asn	rs764579762	missense variant	-	NC_000009.12:g.95479969C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ser356Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95479969C>G	NCI-TCGA
PTCH1	Q13635	p.Ala357Thr	rs779204091	missense variant	-	NC_000009.12:g.95479146C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ala357Ser	COSM6184351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95479146C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ala359Val	rs1302357924	missense variant	-	NC_000009.12:g.95479139G>A	TOPMed
PTCH1	Q13635	p.Gln361Ter	rs199476090	stop gained	-	NC_000009.12:g.95479134G>A	-
PTCH1	Q13635	p.Gln361Ter	RCV000008696	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95479134G>A	ClinVar
PTCH1	Q13635	p.Met363Ter	RCV000485698	frameshift	-	NC_000009.12:g.95479130dup	ClinVar
PTCH1	Q13635	p.Met363Val	rs1342698215	missense variant	-	NC_000009.12:g.95479128T>C	gnomAD
PTCH1	Q13635	p.Gln365Ter	rs267606984	stop gained	-	NC_000009.12:g.95479122G>A	1000Genomes,ExAC
PTCH1	Q13635	p.Gln365Glu	rs267606984	missense variant	-	NC_000009.12:g.95479122G>C	1000Genomes,ExAC
PTCH1	Q13635	p.Gln365Ter	RCV000144436	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95479122G>A	ClinVar
PTCH1	Q13635	p.Met367Val	rs753152792	missense variant	-	NC_000009.12:g.95479116T>C	ExAC,gnomAD
PTCH1	Q13635	p.Lys370Arg	rs768024586	missense variant	-	NC_000009.12:g.95479106T>C	ExAC,gnomAD
PTCH1	Q13635	p.Met372Ter	RCV000492436	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95479096del	ClinVar
PTCH1	Q13635	p.Glu374Lys	rs144323077	missense variant	-	NC_000009.12:g.95479095C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu374Lys	RCV000294710	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95479095C>T	ClinVar
PTCH1	Q13635	p.Glu374Lys	RCV000351965	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479095C>T	ClinVar
PTCH1	Q13635	p.His375Tyr	rs374145534	missense variant	-	NC_000009.12:g.95479092G>A	ESP,ExAC,TOPMed
PTCH1	Q13635	p.His375Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95479091T>G	NCI-TCGA
PTCH1	Q13635	p.Phe376Leu	rs863224648	missense variant	-	NC_000009.12:g.95479087G>C	gnomAD
PTCH1	Q13635	p.Phe376Leu	RCV000198141	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479087G>C	ClinVar
PTCH1	Q13635	p.Phe376Ser	VAR_007844	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Gly378Glu	rs1463870316	missense variant	-	NC_000009.12:g.95479082C>T	gnomAD
PTCH1	Q13635	p.Tyr379His	rs1554699212	missense variant	-	NC_000009.12:g.95479080A>G	-
PTCH1	Q13635	p.Tyr379His	RCV000556183	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479080A>G	ClinVar
PTCH1	Q13635	p.Tyr379Ter	RCV000628328	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95479080dup	ClinVar
PTCH1	Q13635	p.Glu380Lys	RCV000472279	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479077C>T	ClinVar
PTCH1	Q13635	p.Glu380Lys	RCV000764848	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479077C>T	ClinVar
PTCH1	Q13635	p.Glu380Lys	rs772903899	missense variant	-	NC_000009.12:g.95479077C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Ser383Leu	COSM3780229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95479067G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.His384Arg	rs1220687550	missense variant	-	NC_000009.12:g.95479064T>C	TOPMed
PTCH1	Q13635	p.His384Gln	rs200246772	missense variant	-	NC_000009.12:g.95479063G>T	TOPMed
PTCH1	Q13635	p.His384Gln	RCV000568618	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95479063G>T	ClinVar
PTCH1	Q13635	p.Ile385Val	RCV000440703	missense variant	-	NC_000009.12:g.95479062T>C	ClinVar
PTCH1	Q13635	p.Ile385Val	rs977358021	missense variant	-	NC_000009.12:g.95479062T>C	TOPMed
PTCH1	Q13635	p.Asn386Ter	RCV000473492	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95479060del	ClinVar
PTCH1	Q13635	p.Asn386Tyr	rs1244878972	missense variant	-	NC_000009.12:g.95479059T>A	gnomAD
PTCH1	Q13635	p.Asn386Ser	RCV000705758	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479058T>C	ClinVar
PTCH1	Q13635	p.Asn388Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95479051G>C	NCI-TCGA
PTCH1	Q13635	p.Glu389Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95479048C>A	NCI-TCGA
PTCH1	Q13635	p.Asp390Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95479046T>C	NCI-TCGA
PTCH1	Q13635	p.Lys391Arg	RCV000628358	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479043T>C	ClinVar
PTCH1	Q13635	p.Lys391Arg	rs1554699163	missense variant	-	NC_000009.12:g.95479043T>C	-
PTCH1	Q13635	p.Ala392Val	COSM3909221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95479040G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ala393Thr	rs199476091	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95479038C>T	UniProt,dbSNP
PTCH1	Q13635	p.Ala393Thr	VAR_032952	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95479038C>T	UniProt
PTCH1	Q13635	p.Ala393Thr	rs199476091	missense variant	-	NC_000009.12:g.95479038C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala393Val	rs202020837	missense variant	-	NC_000009.12:g.95479037G>A	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Ala393Thr	RCV000532256	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479038C>T	ClinVar
PTCH1	Q13635	p.Ile395Val	rs139498131	missense variant	-	NC_000009.12:g.95479032T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile395Val	RCV000561796	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95479032T>C	ClinVar
PTCH1	Q13635	p.Leu396Val	rs371424684	missense variant	-	NC_000009.12:g.95479029G>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu396Val	RCV000122995	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479029G>C	ClinVar
PTCH1	Q13635	p.Glu397Ter	RCV000697396	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95479023_95479030del	ClinVar
PTCH1	Q13635	p.Ala398Val	rs375098989	missense variant	-	NC_000009.12:g.95479022G>A	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Ala398Thr	rs937023804	missense variant	-	NC_000009.12:g.95479023C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Trp399Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95479018C>A	NCI-TCGA
PTCH1	Q13635	p.Gln400His	rs1277111019	missense variant	-	NC_000009.12:g.95479015C>A	TOPMed,gnomAD
PTCH1	Q13635	p.Gln400Arg	rs1343556333	missense variant	-	NC_000009.12:g.95479016T>C	gnomAD
PTCH1	Q13635	p.Gln400Ter	COSM3909217	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95479017G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Arg401Met	COSM3909213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95479013C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Tyr403Ter	rs1432645175	stop gained	-	NC_000009.12:g.95479006A>C	TOPMed
PTCH1	Q13635	p.Tyr403Ter	RCV000628408	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95479006A>C	ClinVar
PTCH1	Q13635	p.Tyr403His	rs1349048226	missense variant	-	NC_000009.12:g.95479008A>G	TOPMed,gnomAD
PTCH1	Q13635	p.Tyr403His	RCV000628346	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479008A>G	ClinVar
PTCH1	Q13635	p.Tyr403Ter	RCV000464019	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95479006_95479007AT[1]	ClinVar
PTCH1	Q13635	p.Glu405Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95479002C>T	NCI-TCGA
PTCH1	Q13635	p.Glu405Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95479001T>A	NCI-TCGA
PTCH1	Q13635	p.Val406Met	rs756949381	missense variant	-	NC_000009.12:g.95478186C>T	ExAC,gnomAD
PTCH1	Q13635	p.His408Arg	rs763941524	missense variant	-	NC_000009.12:g.95478179T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala412Thr	rs370354759	missense variant	-	NC_000009.12:g.95478168C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala412Thr	RCV000531450	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478168C>T	ClinVar
PTCH1	Q13635	p.Ala412Ser	RCV000429084	missense variant	-	NC_000009.12:g.95478168C>A	ClinVar
PTCH1	Q13635	p.Ala412Ser	rs370354759	missense variant	-	NC_000009.12:g.95478168C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala412Pro	rs370354759	missense variant	-	NC_000009.12:g.95478168C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala412Thr	RCV000761046	missense variant	Germinoma	NC_000009.12:g.95478168C>T	ClinVar
PTCH1	Q13635	p.Gln413Arg	rs975634341	missense variant	-	NC_000009.12:g.95478164T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Thr416Ile	RCV000628345	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478155G>A	ClinVar
PTCH1	Q13635	p.Thr416Ala	rs952195482	missense variant	-	NC_000009.12:g.95478156T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Thr416Ile	rs201174718	missense variant	-	NC_000009.12:g.95478155G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr416Ser	RCV000121905	missense variant	-	NC_000009.12:g.95478155G>C	ClinVar
PTCH1	Q13635	p.Thr416Ile	RCV000572981	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95478155G>A	ClinVar
PTCH1	Q13635	p.Thr416Ser	rs201174718	missense variant	-	NC_000009.12:g.95478155G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr416Ala	RCV000543933	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478156T>C	ClinVar
PTCH1	Q13635	p.Gln417Arg	rs1060502270	missense variant	-	NC_000009.12:g.95478152T>C	-
PTCH1	Q13635	p.Gln417Arg	RCV000476992	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478152T>C	ClinVar
PTCH1	Q13635	p.Lys418Asn	rs1227338966	missense variant	-	NC_000009.12:g.95478148C>A	gnomAD
PTCH1	Q13635	p.Val419Met	rs202136156	missense variant	-	NC_000009.12:g.95478147C>T	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Ser421Phe	RCV000549979	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478140G>A	ClinVar
PTCH1	Q13635	p.Ser421Phe	rs1285775586	missense variant	-	NC_000009.12:g.95478140G>A	gnomAD
PTCH1	Q13635	p.Ser421Cys	rs1285775586	missense variant	-	NC_000009.12:g.95478140G>C	gnomAD
PTCH1	Q13635	p.Thr423Pro	rs1339832074	missense variant	-	NC_000009.12:g.95478135T>G	gnomAD
PTCH1	Q13635	p.Thr424Pro	rs1296267604	missense variant	-	NC_000009.12:g.95478132T>G	gnomAD
PTCH1	Q13635	p.Thr425Met	RCV000198359	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478128G>A	ClinVar
PTCH1	Q13635	p.Thr425Met	rs768956985	missense variant	-	NC_000009.12:g.95478128G>A	ExAC,gnomAD
PTCH1	Q13635	p.Thr426Ile	RCV000534434	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478125G>A	ClinVar
PTCH1	Q13635	p.Thr426Ile	rs755787454	missense variant	-	NC_000009.12:g.95478125G>A	-
PTCH1	Q13635	p.Thr426Ala	COSM1111514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95478126T>C	NCI-TCGA Cosmic
PTCH1	Q13635	p.Asp428Gly	rs1554698835	missense variant	-	NC_000009.12:g.95478119T>C	-
PTCH1	Q13635	p.Asp428Gly	RCV000551477	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478119T>C	ClinVar
PTCH1	Q13635	p.Asp429Asn	rs377546733	missense variant	-	NC_000009.12:g.95478117C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp429Asn	RCV000233892	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478117C>T	ClinVar
PTCH1	Q13635	p.Leu431Pro	RCV000705906	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478110A>G	ClinVar
PTCH1	Q13635	p.Lys432Asn	RCV000704987	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478106T>A	ClinVar
PTCH1	Q13635	p.Ser433Tyr	rs778455544	missense variant	-	NC_000009.12:g.95478104G>T	ExAC,gnomAD
PTCH1	Q13635	p.Asp436Asn	rs142274954	missense variant	-	NC_000009.12:g.95478096C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp436Ter	RCV000475074	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95478094del	ClinVar
PTCH1	Q13635	p.Asp436Glu	rs148471237	missense variant	-	NC_000009.12:g.95478094G>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp436Glu	RCV000548435	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478094G>T	ClinVar
PTCH1	Q13635	p.Asp436Asn	RCV000201284	missense variant	Hirschsprung disease 1 (HSCR1)	NC_000009.12:g.95478096C>T	ClinVar
PTCH1	Q13635	p.Asp436Ter	RCV000539937	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95478095dup	ClinVar
PTCH1	Q13635	p.Val437Ile	rs1293146883	missense variant	-	NC_000009.12:g.95478093C>T	TOPMed
PTCH1	Q13635	p.Ile440Val	RCV000628380	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478084T>C	ClinVar
PTCH1	Q13635	p.Ile440Val	rs752530755	missense variant	-	NC_000009.12:g.95478084T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg441His	RCV000626073	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478080C>T	ClinVar
PTCH1	Q13635	p.Arg441His	rs767273237	missense variant	-	NC_000009.12:g.95478080C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg441Cys	COSM1464047	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95478081G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Val442Met	RCV000528982	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478078C>T	ClinVar
PTCH1	Q13635	p.Val442Met	rs759493890	missense variant	-	NC_000009.12:g.95478078C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val442Leu	rs759493890	missense variant	-	NC_000009.12:g.95478078C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val442Leu	RCV000564856	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95478078C>A	ClinVar
PTCH1	Q13635	p.Ala443Val	rs878853845	missense variant	-	NC_000009.12:g.95478074G>A	-
PTCH1	Q13635	p.Ala443Gly	rs878853845	missense variant	-	NC_000009.12:g.95478074G>C	-
PTCH1	Q13635	p.Ala443Gly	rs878853845	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95478074G>C	UniProt,dbSNP
PTCH1	Q13635	p.Ala443Gly	VAR_032953	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95478074G>C	UniProt
PTCH1	Q13635	p.Ala443Val	RCV000228642	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478074G>A	ClinVar
PTCH1	Q13635	p.Ser444Arg	rs373930674	missense variant	-	NC_000009.12:g.95478070G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser444Ter	RCV000206300	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95478074del	ClinVar
PTCH1	Q13635	p.Gly445Ter	RCV000492240	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95478069del	ClinVar
PTCH1	Q13635	p.Leu448Ile	rs537871675	missense variant	-	NC_000009.12:g.95478060G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu448Ile	RCV000564480	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95478060G>T	ClinVar
PTCH1	Q13635	p.Leu448Ter	RCV000700449	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95478058_95478061del	ClinVar
PTCH1	Q13635	p.Leu448Ile	RCV000628385	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478060G>T	ClinVar
PTCH1	Q13635	p.Met449Ile	rs776771009	missense variant	-	NC_000009.12:g.95478055C>A	ExAC,gnomAD
PTCH1	Q13635	p.Met449Val	rs1423684260	missense variant	-	NC_000009.12:g.95478057T>C	gnomAD
PTCH1	Q13635	p.Met449Leu	rs1423684260	missense variant	-	NC_000009.12:g.95478057T>G	gnomAD
PTCH1	Q13635	p.Ala451Thr	rs142791675	missense variant	-	NC_000009.12:g.95477699C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala451Thr	RCV000468805	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477699C>T	ClinVar
PTCH1	Q13635	p.Ala451ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95477699C>-	NCI-TCGA
PTCH1	Q13635	p.Tyr452Cys	rs1255345516	missense variant	-	NC_000009.12:g.95477695T>C	gnomAD
PTCH1	Q13635	p.Ala453Ter	RCV000698777	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95477694_95477697dup	ClinVar
PTCH1	Q13635	p.Leu455Val	rs900926173	missense variant	-	NC_000009.12:g.95477687G>C	TOPMed,gnomAD
PTCH1	Q13635	p.Arg459Cys	rs779885444	missense variant	-	NC_000009.12:g.95477675G>A	ExAC,gnomAD
PTCH1	Q13635	p.Arg459His	rs140537949	missense variant	-	NC_000009.12:g.95477674C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Trp460Ter	RCV000492113	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95477671C>T	ClinVar
PTCH1	Q13635	p.Trp460Ter	rs1131690974	stop gained	-	NC_000009.12:g.95477671C>T	-
PTCH1	Q13635	p.Asp461Asn	rs750404832	missense variant	-	NC_000009.12:g.95477669C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ser463Cys	RCV000567180	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95477662G>C	ClinVar
PTCH1	Q13635	p.Ser463Cys	rs764195249	missense variant	-	NC_000009.12:g.95477662G>C	ExAC,gnomAD
PTCH1	Q13635	p.Lys464Arg	rs756171491	missense variant	-	NC_000009.12:g.95477659T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gln466Arg	rs1301633215	missense variant	-	NC_000009.12:g.95477653T>C	gnomAD
PTCH1	Q13635	p.Gly467Ser	rs1467995355	missense variant	-	NC_000009.12:g.95477651C>T	gnomAD
PTCH1	Q13635	p.Ala468Ser	rs752908793	missense variant	-	NC_000009.12:g.95477648C>A	ExAC,gnomAD
PTCH1	Q13635	p.Val469Leu	rs1438523462	missense variant	-	NC_000009.12:g.95477645C>A	gnomAD
PTCH1	Q13635	p.Val469Met	rs1438523462	missense variant	-	NC_000009.12:g.95477645C>T	gnomAD
PTCH1	Q13635	p.Val469Ter	RCV000657534	frameshift	-	NC_000009.12:g.95477629_95477647del	ClinVar
PTCH1	Q13635	p.Gly470Arg	RCV000695753	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477642C>T	ClinVar
PTCH1	Q13635	p.Ala472Ser	rs899465701	missense variant	-	NC_000009.12:g.95477636C>A	-
PTCH1	Q13635	p.Ala472Ser	RCV000628334	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477636C>A	ClinVar
PTCH1	Q13635	p.Gly473Ter	RCV000704375	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95477634_95477637AGCC[1]	ClinVar
PTCH1	Q13635	p.Val474Ile	rs766898310	missense variant	-	NC_000009.12:g.95477630C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val474Gly	rs1179872401	missense variant	-	NC_000009.12:g.95477629A>C	gnomAD
PTCH1	Q13635	p.Val474Ile	RCV000472706	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477630C>T	ClinVar
PTCH1	Q13635	p.Ala478Ser	rs773882662	missense variant	-	NC_000009.12:g.95477618C>A	ExAC,gnomAD
PTCH1	Q13635	p.Ala483Gly	rs1216069882	missense variant	-	NC_000009.12:g.95477602G>C	gnomAD
PTCH1	Q13635	p.Gly484Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.95477600C>A	NCI-TCGA
PTCH1	Q13635	p.Cys488Arg	RCV000492484	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95477588A>G	ClinVar
PTCH1	Q13635	p.Cys488Arg	rs1131690999	missense variant	-	NC_000009.12:g.95477588A>G	-
PTCH1	Q13635	p.Leu490Phe	rs1239974947	missense variant	-	NC_000009.12:g.95477580C>G	gnomAD
PTCH1	Q13635	p.Ile491Met	rs768183391	missense variant	-	NC_000009.12:g.95477577G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile491Met	RCV000540664	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477577G>C	ClinVar
PTCH1	Q13635	p.Gly492Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95477576C>T	NCI-TCGA
PTCH1	Q13635	p.Ser494Ala	rs1057515719	missense variant	-	NC_000009.12:g.95477570A>C	-
PTCH1	Q13635	p.Ser494Ala	RCV000322928	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95477570A>C	ClinVar
PTCH1	Q13635	p.Ser494Ala	RCV000379807	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477570A>C	ClinVar
PTCH1	Q13635	p.Phe495Ser	rs1465597890	missense variant	-	NC_000009.12:g.95477566A>G	TOPMed,gnomAD
PTCH1	Q13635	p.Phe495Ter	RCV000553155	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95477567del	ClinVar
PTCH1	Q13635	p.Phe495Val	rs1273841207	missense variant	-	NC_000009.12:g.95477567A>C	TOPMed
PTCH1	Q13635	p.Ala497Thr	rs1398130707	missense variant	-	NC_000009.12:g.95477561C>T	gnomAD
PTCH1	Q13635	p.Ala497Thr	RCV000529142	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477561C>T	ClinVar
PTCH1	Q13635	p.Thr499Ile	rs1298115628	missense variant	-	NC_000009.12:g.95477554G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Gln501His	rs1085307511	missense variant	-	NC_000009.12:g.95477547C>G	-
PTCH1	Q13635	p.Gln501Arg	RCV000201252	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477548T>C	ClinVar
PTCH1	Q13635	p.Gln501Arg	rs863225054	missense variant	-	NC_000009.12:g.95477548T>C	-
PTCH1	Q13635	p.Gln501Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95477549G>C	NCI-TCGA
PTCH1	Q13635	p.Gln501His	RCV000628424	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477547C>G	ClinVar
PTCH1	Q13635	p.Phe505_Leu506delinsLeuArg	VAR_020846	deletion_insertion	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Leu506Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95476845G>C	NCI-TCGA
PTCH1	Q13635	p.Ala507Val	rs1212879470	missense variant	-	NC_000009.12:g.95476841G>A	gnomAD
PTCH1	Q13635	p.Ala507Thr	RCV000564332	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95476842C>T	ClinVar
PTCH1	Q13635	p.Ala507Thr	rs745669155	missense variant	-	NC_000009.12:g.95476842C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ala507Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95476841G>T	NCI-TCGA
PTCH1	Q13635	p.Ala507Thr	RCV000688021	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476842C>T	ClinVar
PTCH1	Q13635	p.Gly509Asp	RCV000477105	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476835C>T	ClinVar
PTCH1	Q13635	p.Gly509Arg	VAR_010974	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Gly509Val	VAR_010975	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Val510Ile	rs770758782	missense variant	-	NC_000009.12:g.95476833C>T	ExAC
PTCH1	Q13635	p.Asp513Val	RCV000770977	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476823T>A	ClinVar
PTCH1	Q13635	p.Asp513Tyr	VAR_010976	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Asp514Gly	COSM3909205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476820T>C	NCI-TCGA Cosmic
PTCH1	Q13635	p.Asp514Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95476820T>G	NCI-TCGA
PTCH1	Q13635	p.Val515Asp	RCV000414160	missense variant	-	NC_000009.12:g.95476817A>T	ClinVar
PTCH1	Q13635	p.Val515Asp	rs1057518491	missense variant	-	NC_000009.12:g.95476817A>T	-
PTCH1	Q13635	p.Phe516Val	RCV000628430	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476815A>C	ClinVar
PTCH1	Q13635	p.Phe516Val	rs1554698288	missense variant	-	NC_000009.12:g.95476815A>C	-
PTCH1	Q13635	p.Ala519Tyr	rs1554698275	missense variant	-	NC_000009.12:g.95476805_95476806delinsTA	-
PTCH1	Q13635	p.Ala519Tyr	RCV000628359	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476805_95476806delinsTA	ClinVar
PTCH1	Q13635	p.Ala521Val	rs755139183	missense variant	-	NC_000009.12:g.95476799G>A	ExAC,gnomAD
PTCH1	Q13635	p.Ala521Val	RCV000628400	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476799G>A	ClinVar
PTCH1	Q13635	p.Ala521Thr	rs781101191	missense variant	-	NC_000009.12:g.95476800C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ser523Thr	rs751778283	missense variant	-	NC_000009.12:g.95476793C>G	ExAC,gnomAD
PTCH1	Q13635	p.Gln527Ter	rs1554698260	stop gained	-	NC_000009.12:g.95476782G>A	-
PTCH1	Q13635	p.Gln527Ter	RCV000622493	nonsense	Inborn genetic diseases	NC_000009.12:g.95476782G>A	ClinVar
PTCH1	Q13635	p.Asn528Ter	RCV000530509	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476779dup	ClinVar
PTCH1	Q13635	p.Lys529Glu	rs780434261	missense variant	-	NC_000009.12:g.95476776T>C	ExAC,gnomAD
PTCH1	Q13635	p.Lys529Glu	RCV000473218	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476776T>C	ClinVar
PTCH1	Q13635	p.Lys529Ter	rs780434261	stop gained	-	NC_000009.12:g.95476776T>A	ExAC,gnomAD
PTCH1	Q13635	p.Lys529Ter	RCV000440834	nonsense	-	NC_000009.12:g.95476776T>A	ClinVar
PTCH1	Q13635	p.Arg530Ile	COSM1111506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476772C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Arg530Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95476772C>T	NCI-TCGA
PTCH1	Q13635	p.Ile531Thr	rs1227526379	missense variant	-	NC_000009.12:g.95476769A>G	gnomAD
PTCH1	Q13635	p.Ile531Thr	RCV000702109	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476769A>G	ClinVar
PTCH1	Q13635	p.Ile531Ter	RCV000201254	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476762_95476772del	ClinVar
PTCH1	Q13635	p.Pro532Arg	rs921410017	missense variant	-	NC_000009.12:g.95476766G>C	TOPMed
PTCH1	Q13635	p.Pro532Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95476767G>T	NCI-TCGA
PTCH1	Q13635	p.Phe533Ser	rs1318015818	missense variant	-	NC_000009.12:g.95476763A>G	TOPMed
PTCH1	Q13635	p.Phe533Cys	rs1318015818	missense variant	-	NC_000009.12:g.95476763A>C	TOPMed
PTCH1	Q13635	p.Phe533Ser	RCV000628431	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476763A>G	ClinVar
PTCH1	Q13635	p.Glu534Gln	rs1323512738	missense variant	-	NC_000009.12:g.95476761C>G	gnomAD
PTCH1	Q13635	p.Glu534Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.95476761C>A	NCI-TCGA
PTCH1	Q13635	p.Asp535Tyr	COSM3849175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476159C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Arg536Gly	rs1187247122	missense variant	-	NC_000009.12:g.95476156T>C	gnomAD
PTCH1	Q13635	p.Arg536Lys	rs1441245268	missense variant	-	NC_000009.12:g.95476155C>T	gnomAD
PTCH1	Q13635	p.Gly538Arg	rs1347882326	missense variant	-	NC_000009.12:g.95476150C>T	gnomAD
PTCH1	Q13635	p.Glu539Ter	RCV000231863	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476150del	ClinVar
PTCH1	Q13635	p.Glu539Ter	RCV000477982	frameshift	-	NC_000009.12:g.95476150dup	ClinVar
PTCH1	Q13635	p.Glu539Ter	RCV000434399	frameshift	-	NC_000009.12:g.95476150del	ClinVar
PTCH1	Q13635	p.Lys542Arg	rs758673714	missense variant	-	NC_000009.12:g.95476137T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Lys542Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.95476138T>A	NCI-TCGA
PTCH1	Q13635	p.Arg543Leu	rs150284288	missense variant	-	NC_000009.12:g.95476134C>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg543His	RCV000459756	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476134C>T	ClinVar
PTCH1	Q13635	p.Arg543Cys	rs137903539	missense variant	-	NC_000009.12:g.95476135G>A	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Arg543Ser	rs137903539	missense variant	-	NC_000009.12:g.95476135G>T	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Arg543His	rs150284288	missense variant	-	NC_000009.12:g.95476134C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly545Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.95476129C>A	NCI-TCGA
PTCH1	Q13635	p.Ser547Ile	RCV000707044	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476122C>A	ClinVar
PTCH1	Q13635	p.Val548Met	rs575035810	missense variant	-	NC_000009.12:g.95476120C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val548Leu	rs575035810	missense variant	-	NC_000009.12:g.95476120C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val548LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95476123_95476124insCAGTCATTTATTTTCTTGGA	NCI-TCGA
PTCH1	Q13635	p.Ala549Val	rs759078774	missense variant	-	NC_000009.12:g.95476116G>A	ExAC,gnomAD
PTCH1	Q13635	p.Thr551Ala	rs774082990	missense variant	-	NC_000009.12:g.95476111T>C	ExAC
PTCH1	Q13635	p.Thr551Met	RCV000195516	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476110G>A	ClinVar
PTCH1	Q13635	p.Thr551Ter	RCV000628376	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476111dup	ClinVar
PTCH1	Q13635	p.Thr551Met	rs863224649	missense variant	-	NC_000009.12:g.95476110G>A	-
PTCH1	Q13635	p.Ser552Cys	rs1163102757	missense variant	-	NC_000009.12:g.95476107G>C	gnomAD
PTCH1	Q13635	p.Ser554Asn	rs148367880	missense variant	-	NC_000009.12:g.95476101C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser554Cys	rs1060502282	missense variant	-	NC_000009.12:g.95476102T>A	gnomAD
PTCH1	Q13635	p.Ser554Asn	RCV000197370	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476101C>T	ClinVar
PTCH1	Q13635	p.Ser554Cys	RCV000464727	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476102T>A	ClinVar
PTCH1	Q13635	p.Asn555Ser	RCV000492139	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95476098T>C	ClinVar
PTCH1	Q13635	p.Asn555Ser	rs181192122	missense variant	-	NC_000009.12:g.95476098T>C	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.AsnVal555AsnIle	rs1064795375	missense variant	-	NC_000009.12:g.95476096_95476097inv	-
PTCH1	Q13635	p.Asn555Ser	RCV000204428	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476098T>C	ClinVar
PTCH1	Q13635	p.Val556Ile	rs1318405179	missense variant	-	NC_000009.12:g.95476096C>T	gnomAD
PTCH1	Q13635	p.Val556Ile	RCV000485696	missense variant	-	NC_000009.12:g.95476096_95476097inv	ClinVar
PTCH1	Q13635	p.Thr557Ala	rs772312984	missense variant	-	NC_000009.12:g.95476093T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Phe560Ser	RCV000704364	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476083A>G	ClinVar
PTCH1	Q13635	p.Met561Val	rs1332335605	missense variant	-	NC_000009.12:g.95476081T>C	gnomAD
PTCH1	Q13635	p.Ala563Ser	rs146616780	missense variant	-	NC_000009.12:g.95476075C>A	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Ala563Thr	rs146616780	missense variant	-	NC_000009.12:g.95476075C>T	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Ala563Val	COSM24853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476074G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ile565Met	RCV000688097	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476067G>C	ClinVar
PTCH1	Q13635	p.Ile565Val	rs778170244	missense variant	-	NC_000009.12:g.95476069T>C	ExAC,gnomAD
PTCH1	Q13635	p.Ile567Val	rs200504753	missense variant	-	NC_000009.12:g.95476063T>C	1000Genomes,ESP,ExAC,gnomAD
PTCH1	Q13635	p.Pro568Leu	COSM96963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476059G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ala569Val	rs766973191	missense variant	-	NC_000009.12:g.95476056G>A	ExAC,gnomAD
PTCH1	Q13635	p.Ala569Thr	rs753240797	missense variant	-	NC_000009.12:g.95476057C>T	ExAC
PTCH1	Q13635	p.Ala569Ter	RCV000700190	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476060del	ClinVar
PTCH1	Q13635	p.Leu570Ter	RCV000550512	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476044_95476056del	ClinVar
PTCH1	Q13635	p.Arg571Gln	rs377566861	missense variant	-	NC_000009.12:g.95476050C>T	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Arg571Trp	rs1420410274	missense variant	-	NC_000009.12:g.95476051G>A	gnomAD
PTCH1	Q13635	p.Ala572Val	rs1485556285	missense variant	-	NC_000009.12:g.95476047G>A	TOPMed
PTCH1	Q13635	p.Gln576Ter	COSM17467	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95476036G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ala577Thr	rs1554695631	missense variant	-	NC_000009.12:g.95469931C>T	-
PTCH1	Q13635	p.Ala577Thr	RCV000549859	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469931C>T	ClinVar
PTCH1	Q13635	p.Ala578Val	rs960630296	missense variant	-	NC_000009.12:g.95469927G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Ala578ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95469929T>-	NCI-TCGA
PTCH1	Q13635	p.Val579Ile	rs751708515	missense variant	-	NC_000009.12:g.95469925C>T	ExAC,gnomAD
PTCH1	Q13635	p.Val581Ala	rs777030659	missense variant	-	NC_000009.12:g.95469918A>G	ExAC,gnomAD
PTCH1	Q13635	p.Val581Met	rs1468340502	missense variant	-	NC_000009.12:g.95469919C>T	gnomAD
PTCH1	Q13635	p.Val582Ala	rs1186348167	missense variant	-	NC_000009.12:g.95469915A>G	TOPMed
PTCH1	Q13635	p.Phe583Val	rs1554695616	missense variant	-	NC_000009.12:g.95469913A>C	-
PTCH1	Q13635	p.Phe583Leu	rs1215914099	missense variant	-	NC_000009.12:g.95469911G>C	gnomAD
PTCH1	Q13635	p.Phe583Val	RCV000561535	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469913A>C	ClinVar
PTCH1	Q13635	p.Asn584LeuLeuLeuLysAlaLysPheArgIle	NCI-TCGA novel	insertion	-	NC_000009.12:g.95469908_95469909insATCCTAAATTTGGCTTTCAAAAGCAAG	NCI-TCGA
PTCH1	Q13635	p.Phe585Ter	RCV000525712	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95469903_95469905delinsCC	ClinVar
PTCH1	Q13635	p.Phe585Cys	rs1247050005	missense variant	-	NC_000009.12:g.95469906A>C	TOPMed
PTCH1	Q13635	p.Phe585Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95469907A>C	NCI-TCGA
PTCH1	Q13635	p.Met587TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95469902G>-	NCI-TCGA
PTCH1	Q13635	p.Val588Ile	rs1472804824	missense variant	-	NC_000009.12:g.95469898C>T	TOPMed
PTCH1	Q13635	p.Leu589Ter	RCV000760989	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95469897del	ClinVar
PTCH1	Q13635	p.Leu590Phe	COSM3909193	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95469892G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Pro593LeuPheSerTerUnkUnk	COSM1464024	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95469884A>-	NCI-TCGA Cosmic
PTCH1	Q13635	p.Asp599Gly	rs1324112215	missense variant	-	NC_000009.12:g.95469864T>C	gnomAD
PTCH1	Q13635	p.Leu600Phe	COSM3659813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95469860T>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Arg602Ter	rs863224650	stop gained	-	NC_000009.12:g.95469856G>A	TOPMed
PTCH1	Q13635	p.Arg602Ter	RCV000492414	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469856G>A	ClinVar
PTCH1	Q13635	p.Arg602Gln	rs1382474804	missense variant	-	NC_000009.12:g.95469855C>T	gnomAD
PTCH1	Q13635	p.Arg603His	rs199523893	missense variant	-	NC_000009.12:g.95469852C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg603His	RCV000315597	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95469852C>T	ClinVar
PTCH1	Q13635	p.Glu604Lys	RCV000628418	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469850C>T	ClinVar
PTCH1	Q13635	p.Glu604Lys	rs778627715	missense variant	-	NC_000009.12:g.95469850C>T	ExAC,gnomAD
PTCH1	Q13635	p.Glu604Ala	rs756951491	missense variant	-	NC_000009.12:g.95469849T>G	ExAC,gnomAD
PTCH1	Q13635	p.Glu604Gln	COSM422302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95469850C>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.Arg606Lys	rs748991295	missense variant	-	NC_000009.12:g.95469843C>T	ExAC
PTCH1	Q13635	p.Asp609Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95469835C>T	NCI-TCGA
PTCH1	Q13635	p.Ile610Thr	rs1234183663	missense variant	-	NC_000009.12:g.95469831A>G	TOPMed,gnomAD
PTCH1	Q13635	p.Ile610Thr	RCV000628422	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469831A>G	ClinVar
PTCH1	Q13635	p.Ile610Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95469830A>C	NCI-TCGA
PTCH1	Q13635	p.Cys612Phe	rs777587539	missense variant	-	NC_000009.12:g.95469825C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Cys612Phe	RCV000573502	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469825C>A	ClinVar
PTCH1	Q13635	p.Cys613Arg	rs948568790	missense variant	-	NC_000009.12:g.95469823A>G	TOPMed,gnomAD
PTCH1	Q13635	p.Cys613Arg	RCV000527333	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469823A>G	ClinVar
PTCH1	Q13635	p.Phe614Ter	RCV000492209	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469821del	ClinVar
PTCH1	Q13635	p.Phe614Leu	RCV000686093	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469820A>G	ClinVar
PTCH1	Q13635	p.Phe614Val	rs1193948667	missense variant	-	NC_000009.12:g.95469820A>C	gnomAD
PTCH1	Q13635	p.Ser616Gly	RCV000492306	missense variant	Inborn genetic diseases	NC_000009.12:g.95469814T>C	ClinVar
PTCH1	Q13635	p.Ser616Gly	rs1131690983	missense variant	-	NC_000009.12:g.95469814T>C	-
PTCH1	Q13635	p.Val619Ile	rs1060502266	missense variant	-	NC_000009.12:g.95469146C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Val619Ile	RCV000456193	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469146C>T	ClinVar
PTCH1	Q13635	p.Ser620Asn	rs181138950	missense variant	-	NC_000009.12:g.95469142C>T	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Arg621Thr	rs751536947	missense variant	-	NC_000009.12:g.95469139C>G	ExAC,gnomAD
PTCH1	Q13635	p.Val622Leu	rs765258547	missense variant	-	NC_000009.12:g.95469137C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val625Asp	rs1175793715	missense variant	-	NC_000009.12:g.95469127A>T	gnomAD
PTCH1	Q13635	p.Gln628Ter	rs1060502274	stop gained	-	NC_000009.12:g.95469119G>A	-
PTCH1	Q13635	p.Gln628Ter	RCV000470850	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95469119G>A	ClinVar
PTCH1	Q13635	p.Ala629Ter	RCV000628398	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95469117del	ClinVar
PTCH1	Q13635	p.Ala629Val	rs1435626556	missense variant	-	NC_000009.12:g.95469115G>A	gnomAD
PTCH1	Q13635	p.Thr631Ile	rs727504112	missense variant	-	NC_000009.12:g.95469109G>A	TOPMed
PTCH1	Q13635	p.Thr631Ile	RCV000539650	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469109G>A	ClinVar
PTCH1	Q13635	p.Thr631Ile	RCV000153789	missense variant	-	NC_000009.12:g.95469109G>A	ClinVar
PTCH1	Q13635	p.Asp632Asn	rs559293815	missense variant	-	NC_000009.12:g.95469107C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp632Ter	RCV000657347	frameshift	-	NC_000009.12:g.95469103_95469112del	ClinVar
PTCH1	Q13635	p.Asp632Asn	RCV000628395	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469107C>T	ClinVar
PTCH1	Q13635	p.His634Tyr	rs764218645	missense variant	-	NC_000009.12:g.95469101G>A	ExAC,gnomAD
PTCH1	Q13635	p.Asp635Tyr	rs372555269	missense variant	-	NC_000009.12:g.95469098C>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp635Asn	RCV000552271	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469098C>T	ClinVar
PTCH1	Q13635	p.Asp635Gly	rs200321717	missense variant	-	NC_000009.12:g.95469097T>C	1000Genomes
PTCH1	Q13635	p.Asp635Asn	rs372555269	missense variant	-	NC_000009.12:g.95469098C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp635Val	rs200321717	missense variant	-	NC_000009.12:g.95469097T>A	1000Genomes
PTCH1	Q13635	p.Asn636Tyr	rs1390308281	missense variant	-	NC_000009.12:g.95469095T>A	TOPMed
PTCH1	Q13635	p.Thr637Ile	rs369090032	missense variant	-	NC_000009.12:g.95469091G>A	ESP,TOPMed,gnomAD
PTCH1	Q13635	p.Arg638Cys	RCV000545851	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469089G>A	ClinVar
PTCH1	Q13635	p.Arg638Cys	rs1053507002	missense variant	-	NC_000009.12:g.95469089G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Arg638His	rs145766839	missense variant	-	NC_000009.12:g.95469088C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg638His	RCV000756577	missense variant	-	NC_000009.12:g.95469088C>T	ClinVar
PTCH1	Q13635	p.Tyr639His	rs775023150	missense variant	-	NC_000009.12:g.95469086A>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro642Leu	rs762371629	missense variant	-	NC_000009.12:g.95469076G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro642Gln	rs762371629	missense variant	-	NC_000009.12:g.95469076G>T	ExAC,gnomAD
PTCH1	Q13635	p.Pro642Gln	RCV000628392	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469076G>T	ClinVar
PTCH1	Q13635	p.Pro643Leu	rs1165662230	missense variant	-	NC_000009.12:g.95469073G>A	gnomAD
PTCH1	Q13635	p.Pro644His	rs1353450809	missense variant	-	NC_000009.12:g.95469070G>T	gnomAD
PTCH1	Q13635	p.Tyr645Cys	RCV000466049	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469067T>C	ClinVar
PTCH1	Q13635	p.Tyr645Cys	rs772841736	missense variant	-	NC_000009.12:g.95469067T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser646Thr	rs554636683	missense variant	-	NC_000009.12:g.95469064C>G	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.His648Asp	rs149762881	missense variant	-	NC_000009.12:g.95469059G>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.His648Leu	rs1402828019	missense variant	-	NC_000009.12:g.95469058T>A	gnomAD
PTCH1	Q13635	p.His648Asp	RCV000167878	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469059G>C	ClinVar
PTCH1	Q13635	p.Ser649Gly	rs375049109	missense variant	-	NC_000009.12:g.95469056T>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser649Gly	RCV000568417	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469056T>C	ClinVar
PTCH1	Q13635	p.Ser649Gly	RCV000701978	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469056T>C	ClinVar
PTCH1	Q13635	p.His652Arg	rs1420640611	missense variant	-	NC_000009.12:g.95469046T>C	TOPMed,gnomAD
PTCH1	Q13635	p.His652Tyr	rs1035631674	missense variant	-	NC_000009.12:g.95469047G>A	gnomAD
PTCH1	Q13635	p.Glu653Val	RCV000529742	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469043T>A	ClinVar
PTCH1	Q13635	p.Glu653Val	rs1554695145	missense variant	-	NC_000009.12:g.95469043T>A	-
PTCH1	Q13635	p.Thr654Met	rs746898855	missense variant	-	NC_000009.12:g.95469040G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gln655His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95469036C>A	NCI-TCGA
PTCH1	Q13635	p.Thr657Ser	RCV000699389	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469032T>A	ClinVar
PTCH1	Q13635	p.Met658Val	rs1448553293	missense variant	-	NC_000009.12:g.95469029T>C	gnomAD
PTCH1	Q13635	p.Gln659Glu	rs1268572514	missense variant	-	NC_000009.12:g.95469026G>C	gnomAD
PTCH1	Q13635	p.Thr661Ala	rs753850577	missense variant	-	NC_000009.12:g.95469020T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val662Ile	rs1332668908	missense variant	-	NC_000009.12:g.95469017C>T	gnomAD
PTCH1	Q13635	p.Val662Ala	rs756263511	missense variant	-	NC_000009.12:g.95469016A>G	ExAC,gnomAD
PTCH1	Q13635	p.Gln663His	rs753002023	missense variant	-	NC_000009.12:g.95469012C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gln663His	RCV000563327	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469012C>G	ClinVar
PTCH1	Q13635	p.Gln663His	RCV000764847	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95469012C>G	ClinVar
PTCH1	Q13635	p.Gln663Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95469013T>C	NCI-TCGA
PTCH1	Q13635	p.Gln663His	RCV000230002	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469012C>G	ClinVar
PTCH1	Q13635	p.Leu664Val	RCV000685314	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469011G>C	ClinVar
PTCH1	Q13635	p.Arg665His	rs139705799	missense variant	-	NC_000009.12:g.95469007C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg665Leu	rs139705799	missense variant	-	NC_000009.12:g.95469007C>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg665Cys	rs767947110	missense variant	-	NC_000009.12:g.95469008G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg665His	RCV000573467	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469007C>T	ClinVar
PTCH1	Q13635	p.Arg665His	RCV000232926	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469007C>T	ClinVar
PTCH1	Q13635	p.Thr666Met	rs752043221	missense variant	-	NC_000009.12:g.95469004G>A	ExAC,gnomAD
PTCH1	Q13635	p.Tyr668Cys	COSM3909185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468998T>C	NCI-TCGA Cosmic
PTCH1	Q13635	p.Asp669Asn	RCV000628371	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468996C>T	ClinVar
PTCH1	Q13635	p.Asp669Asn	rs772574714	missense variant	-	NC_000009.12:g.95468996C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.His671Tyr	rs376678753	missense variant	-	NC_000009.12:g.95468990G>A	ESP,ExAC,TOPMed
PTCH1	Q13635	p.His671Ter	RCV000277549	frameshift	-	NC_000009.12:g.95468994dup	ClinVar
PTCH1	Q13635	p.Thr672Met	rs372219420	missense variant	-	NC_000009.12:g.95468986G>A	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Thr672Met	RCV000547194	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468986G>A	ClinVar
PTCH1	Q13635	p.Thr672Ala	rs1166037534	missense variant	-	NC_000009.12:g.95468987T>C	gnomAD
PTCH1	Q13635	p.His673Asp	rs1184226425	missense variant	-	NC_000009.12:g.95468984G>C	gnomAD
PTCH1	Q13635	p.His673Gln	rs587780695	missense variant	-	NC_000009.12:g.95468982G>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val674Met	rs1060502291	missense variant	-	NC_000009.12:g.95468981C>T	gnomAD
PTCH1	Q13635	p.Val674Met	RCV000465814	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468981C>T	ClinVar
PTCH1	Q13635	p.Val674Gly	rs1192777342	missense variant	-	NC_000009.12:g.95468980A>C	gnomAD
PTCH1	Q13635	p.Tyr675His	COSM3909181	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468978A>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.Tyr676His	rs1270892737	missense variant	-	NC_000009.12:g.95468975A>G	gnomAD
PTCH1	Q13635	p.Tyr676Cys	rs1274998781	missense variant	-	NC_000009.12:g.95468974T>C	gnomAD
PTCH1	Q13635	p.Tyr676Cys	RCV000559748	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468974T>C	ClinVar
PTCH1	Q13635	p.Ala679Thr	RCV000195690	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468966C>T	ClinVar
PTCH1	Q13635	p.Ala679Thr	rs771882746	missense variant	-	NC_000009.12:g.95468966C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro681Leu	COSM17459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468959G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Pro681ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95468959G>-	NCI-TCGA
PTCH1	Q13635	p.Arg682His	rs1366288601	missense variant	-	NC_000009.12:g.95468956C>T	gnomAD
PTCH1	Q13635	p.Arg682Cys	rs570441437	missense variant	-	NC_000009.12:g.95468957G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg682His	RCV000628369	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468956C>T	ClinVar
PTCH1	Q13635	p.Arg682Cys	RCV000610815	missense variant	-	NC_000009.12:g.95468957G>A	ClinVar
PTCH1	Q13635	p.Glu684Lys	rs62637629	missense variant	-	NC_000009.12:g.95468951C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu684Lys	RCV000607164	missense variant	-	NC_000009.12:g.95468951C>T	ClinVar
PTCH1	Q13635	p.Glu684Lys	RCV000196458	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468951C>T	ClinVar
PTCH1	Q13635	p.Ser686Phe	rs1373585633	missense variant	-	NC_000009.12:g.95468944G>A	gnomAD
PTCH1	Q13635	p.Val687Met	rs374691153	missense variant	-	NC_000009.12:g.95468942C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val687Ala	rs755314955	missense variant	-	NC_000009.12:g.95468941A>G	ExAC,gnomAD
PTCH1	Q13635	p.Val687Met	RCV000805523	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468942C>T	ClinVar
PTCH1	Q13635	p.Val687Leu	COSM4935157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468942C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Val687Met	RCV000761130	missense variant	Acute myeloid leukemia (AML)	NC_000009.12:g.95468942C>T	ClinVar
PTCH1	Q13635	p.Gln688Ter	RCV000535004	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95468939G>A	ClinVar
PTCH1	Q13635	p.Gln688Ter	rs1554695039	stop gained	-	NC_000009.12:g.95468939G>A	-
PTCH1	Q13635	p.Gln688Arg	rs751955563	missense variant	-	NC_000009.12:g.95468938T>C	ExAC,gnomAD
PTCH1	Q13635	p.Pro689Leu	rs766812549	missense variant	-	NC_000009.12:g.95468935G>A	ExAC
PTCH1	Q13635	p.Val690Ile	RCV000547340	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468933C>T	ClinVar
PTCH1	Q13635	p.Val690Ile	rs750970743	missense variant	-	NC_000009.12:g.95468933C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr691Ala	rs1441109818	missense variant	-	NC_000009.12:g.95468930T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Thr691Ile	COSM17496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468929G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Thr691Ter	RCV000483987	frameshift	-	NC_000009.12:g.95468928_95468929del	ClinVar
PTCH1	Q13635	p.Val692Met	rs758487789	missense variant	-	NC_000009.12:g.95468927C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val692Met	RCV000227159	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468927C>T	ClinVar
PTCH1	Q13635	p.Thr693Ala	COSM3909177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468924T>C	NCI-TCGA Cosmic
PTCH1	Q13635	p.Thr696Ser	rs569655753	missense variant	-	NC_000009.12:g.95468914G>C	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Leu697His	rs199892130	missense variant	-	NC_000009.12:g.95468911A>T	TOPMed,gnomAD
PTCH1	Q13635	p.Leu697Arg	rs199892130	missense variant	-	NC_000009.12:g.95468911A>C	TOPMed,gnomAD
PTCH1	Q13635	p.Leu697Ile	COSM5163164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468912G>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu697Arg	RCV000034562	missense variant	-	NC_000009.12:g.95468911A>C	ClinVar
PTCH1	Q13635	p.Ser698Asn	rs763724025	missense variant	-	NC_000009.12:g.95468908C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ser698Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95468908C>A	NCI-TCGA
PTCH1	Q13635	p.Cys699Phe	rs547829353	missense variant	-	NC_000009.12:g.95468905C>A	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Cys699Gly	rs1241082201	missense variant	-	NC_000009.12:g.95468906A>C	TOPMed
PTCH1	Q13635	p.Ser701Ile	rs775235892	missense variant	-	NC_000009.12:g.95468899C>A	ExAC
PTCH1	Q13635	p.Ser701Ile	RCV000475319	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468899C>A	ClinVar
PTCH1	Q13635	p.Pro702Arg	rs368362152	missense variant	-	NC_000009.12:g.95468896G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro702Arg	RCV000161923	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468896G>C	ClinVar
PTCH1	Q13635	p.Glu703Lys	COSM5153143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468894C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ser704Gly	rs1182895378	missense variant	-	NC_000009.12:g.95468891T>C	TOPMed
PTCH1	Q13635	p.Ser706Thr	rs140497736	missense variant	-	NC_000009.12:g.95468884C>G	TOPMed,gnomAD
PTCH1	Q13635	p.Thr708Ile	rs1060502290	missense variant	-	NC_000009.12:g.95468878G>A	gnomAD
PTCH1	Q13635	p.Thr708Ile	RCV000471331	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468878G>A	ClinVar
PTCH1	Q13635	p.Asp710Glu	rs774362306	missense variant	-	NC_000009.12:g.95468871G>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp710Gly	rs1402724349	missense variant	-	NC_000009.12:g.95468872T>C	TOPMed
PTCH1	Q13635	p.Leu712Phe	rs587780696	missense variant	-	NC_000009.12:g.95468867G>A	-
PTCH1	Q13635	p.Leu712Phe	RCV000123005	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468867G>A	ClinVar
PTCH1	Q13635	p.Ser713Cys	RCV000628351	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468863G>C	ClinVar
PTCH1	Q13635	p.Ser713Ter	RCV000657504	frameshift	-	NC_000009.12:g.95468866dup	ClinVar
PTCH1	Q13635	p.Ser713Cys	rs1554694963	missense variant	-	NC_000009.12:g.95468863G>C	-
PTCH1	Q13635	p.Gln714Arg	rs1051496812	missense variant	-	NC_000009.12:g.95468860T>C	TOPMed
PTCH1	Q13635	p.Ser716Cys	rs1411146165	missense variant	-	NC_000009.12:g.95468854G>C	gnomAD
PTCH1	Q13635	p.Ser716Pro	RCV000689881	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468855A>G	ClinVar
PTCH1	Q13635	p.Asp717Asn	rs1311707136	missense variant	-	NC_000009.12:g.95468852C>T	gnomAD
PTCH1	Q13635	p.Asp717Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95468850G>T	NCI-TCGA
PTCH1	Q13635	p.Leu723Arg	rs1554694943	missense variant	-	NC_000009.12:g.95468833A>C	-
PTCH1	Q13635	p.Leu723Arg	RCV000628374	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468833A>C	ClinVar
PTCH1	Q13635	p.Glu724Lys	rs144501989	missense variant	-	NC_000009.12:g.95468831C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu724Asp	RCV000524846	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468829C>G	ClinVar
PTCH1	Q13635	p.Glu724Asp	rs747274181	missense variant	-	NC_000009.12:g.95468829C>G	ExAC,gnomAD
PTCH1	Q13635	p.Glu724Gln	rs144501989	missense variant	-	NC_000009.12:g.95468831C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu724Gln	RCV000548990	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468831C>G	ClinVar
PTCH1	Q13635	p.Glu724Lys	RCV000458908	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468831C>T	ClinVar
PTCH1	Q13635	p.Pro725Ser	RCV000492416	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468828G>A	ClinVar
PTCH1	Q13635	p.Pro725Arg	rs963297092	missense variant	-	NC_000009.12:g.95468827G>C	TOPMed,gnomAD
PTCH1	Q13635	p.Pro725Ser	rs149258400	missense variant	-	NC_000009.12:g.95468828G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro725Arg	RCV000457358	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468827G>C	ClinVar
PTCH1	Q13635	p.Pro726Arg	rs587780697	missense variant	-	NC_000009.12:g.95468824G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro726Leu	RCV000563615	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468824G>A	ClinVar
PTCH1	Q13635	p.Pro726Ser	RCV000601883	missense variant	-	NC_000009.12:g.95468825G>A	ClinVar
PTCH1	Q13635	p.Pro726Ser	rs758811078	missense variant	-	NC_000009.12:g.95468825G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro726Leu	rs587780697	missense variant	-	NC_000009.12:g.95468824G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro726His	rs587780697	missense variant	-	NC_000009.12:g.95468824G>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro726Arg	RCV000123007	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468824G>C	ClinVar
PTCH1	Q13635	p.Cys727Arg	RCV000628412	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468822A>G	ClinVar
PTCH1	Q13635	p.Cys727LeuPheSerTerUnkUnk	COSM17555	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95468822_95468823insG	NCI-TCGA Cosmic
PTCH1	Q13635	p.Cys727ValPheSerTerUnkUnk	COSM4718611	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95468823G>-	NCI-TCGA Cosmic
PTCH1	Q13635	p.Cys727Arg	rs779167673	missense variant	-	NC_000009.12:g.95468822A>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr728Met	RCV000206005	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468818G>A	ClinVar
PTCH1	Q13635	p.Thr728Met	rs115556836	missense variant	-	NC_000009.12:g.95468818G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Trp730Ter	rs1131690992	stop gained	-	NC_000009.12:g.95468811C>T	-
PTCH1	Q13635	p.Trp730Ter	RCV000492480	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468811C>T	ClinVar
PTCH1	Q13635	p.Leu732Pro	rs1229587325	missense variant	-	NC_000009.12:g.95468806A>G	gnomAD
PTCH1	Q13635	p.Ser733Ter	RCV000492757	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468804_95468805AG[1]	ClinVar
PTCH1	Q13635	p.Ser733Leu	rs1311804361	missense variant	-	NC_000009.12:g.95468803G>A	gnomAD
PTCH1	Q13635	p.Ser733Ter	COSM1111488	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95468803G>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ser733Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95468804A>G	NCI-TCGA
PTCH1	Q13635	p.Ser733Ter	RCV000473031	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95468804_95468805AG[1]	ClinVar
PTCH1	Q13635	p.His739Leu	rs202033167	missense variant	-	NC_000009.12:g.95468785T>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.His739Phe	RCV000574477	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468785_95468786delinsAA	ClinVar
PTCH1	Q13635	p.His739Tyr	RCV000460486	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468786G>A	ClinVar
PTCH1	Q13635	p.His739Phe	RCV000206147	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468785_95468786delinsAA	ClinVar
PTCH1	Q13635	p.His739Tyr	rs200189314	missense variant	-	NC_000009.12:g.95468786G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.His739Phe	rs864622295	missense variant	-	NC_000009.12:g.95468785_95468786delinsAA	-
PTCH1	Q13635	p.Tyr740Cys	rs1156974460	missense variant	-	NC_000009.12:g.95468782T>C	TOPMed
PTCH1	Q13635	p.Ala741Pro	rs774077315	missense variant	-	NC_000009.12:g.95468780C>G	ExAC,gnomAD
PTCH1	Q13635	p.Ala741Val	rs2227971	missense variant	-	NC_000009.12:g.95468779G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala741Val	RCV000123008	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468779G>A	ClinVar
PTCH1	Q13635	p.Ala741Val	RCV000121885	missense variant	-	NC_000009.12:g.95468779G>A	ClinVar
PTCH1	Q13635	p.Pro742Leu	rs1185984575	missense variant	-	NC_000009.12:g.95468776G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Pro742Arg	rs1185984575	missense variant	-	NC_000009.12:g.95468776G>C	TOPMed,gnomAD
PTCH1	Q13635	p.Leu744Pro	COSM3909173	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468770A>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.Lys746Asn	rs776817244	missense variant	-	NC_000009.12:g.95468763T>A	ExAC,gnomAD
PTCH1	Q13635	p.Ala749Ter	RCV000722022	frameshift	Medulloblastoma (MDB)	NC_000009.12:g.95468760del	ClinVar
PTCH1	Q13635	p.Ala749Ter	RCV000693113	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95468760del	ClinVar
PTCH1	Q13635	p.Lys750Glu	rs1239869539	missense variant	-	NC_000009.12:g.95468753T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Val751Gly	VAR_032955	Missense	Holoprosencephaly 7 (HPE7) [MIM:610828]	-	UniProt
PTCH1	Q13635	p.Val753Ala	COSM3909169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95467418A>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu756Phe	rs1398517498	missense variant	-	NC_000009.12:g.95467410G>A	TOPMed
PTCH1	Q13635	p.Phe757Ser	RCV000231046	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467406A>G	ClinVar
PTCH1	Q13635	p.Phe757Ser	rs547954117	missense variant	-	NC_000009.12:g.95467406A>G	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly759Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95467401C>G	NCI-TCGA
PTCH1	Q13635	p.Val763Phe	rs544963328	missense variant	-	NC_000009.12:g.95467389C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val763Phe	RCV000764846	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95467389C>A	ClinVar
PTCH1	Q13635	p.Val763Phe	RCV000628339	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467389C>A	ClinVar
PTCH1	Q13635	p.Tyr766His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95467380A>G	NCI-TCGA
PTCH1	Q13635	p.Thr768Ile	RCV000233705	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467373G>A	ClinVar
PTCH1	Q13635	p.Thr768Ile	rs878853850	missense variant	-	NC_000009.12:g.95467373G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Thr769Ile	rs755391704	missense variant	-	NC_000009.12:g.95467370G>A	ExAC,gnomAD
PTCH1	Q13635	p.Thr769Ile	RCV000211475	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467370G>A	ClinVar
PTCH1	Q13635	p.Arg770Ter	RCV000492631	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95467368G>A	ClinVar
PTCH1	Q13635	p.Arg770Ter	RCV000477338	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95467368G>A	ClinVar
PTCH1	Q13635	p.Arg770Gln	rs762942660	missense variant	-	NC_000009.12:g.95467367C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg770Ter	rs766313615	stop gained	-	NC_000009.12:g.95467368G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg770Gly	rs766313615	missense variant	-	NC_000009.12:g.95467368G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val771Leu	rs1357637254	missense variant	-	NC_000009.12:g.95467365C>A	gnomAD
PTCH1	Q13635	p.Arg772Lys	COSM1315050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95467361C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu775Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95467353G>T	NCI-TCGA
PTCH1	Q13635	p.Asp776Glu	rs923429610	missense variant	-	NC_000009.12:g.95467348G>T	TOPMed,gnomAD
PTCH1	Q13635	p.Asp776Glu	RCV000628375	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467348G>T	ClinVar
PTCH1	Q13635	p.Leu777Val	rs376799601	missense variant	-	NC_000009.12:g.95467347G>C	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Leu777Phe	rs376799601	missense variant	-	NC_000009.12:g.95467347G>A	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Thr778Pro	rs869025270	missense variant	-	NC_000009.12:g.95467344T>G	-
PTCH1	Q13635	p.Thr778Pro	RCV000207370	missense variant	-	NC_000009.12:g.95467344T>G	ClinVar
PTCH1	Q13635	p.Thr778Met	RCV000461489	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467343G>A	ClinVar
PTCH1	Q13635	p.Thr778Met	rs747762028	missense variant	-	NC_000009.12:g.95467343G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp779Asn	rs1323606391	missense variant	-	NC_000009.12:g.95467341C>T	gnomAD
PTCH1	Q13635	p.Ile780Val	rs1388496324	missense variant	-	NC_000009.12:g.95467338T>C	gnomAD
PTCH1	Q13635	p.Val781Ile	rs1391343996	missense variant	-	NC_000009.12:g.95467335C>T	gnomAD
PTCH1	Q13635	p.Pro782Ter	RCV000467884	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95467334dup	ClinVar
PTCH1	Q13635	p.Arg783Gln	rs779296683	missense variant	-	NC_000009.12:g.95467328C>T	ExAC,gnomAD
PTCH1	Q13635	p.Arg783Trp	rs1060502293	missense variant	-	NC_000009.12:g.95467329G>A	gnomAD
PTCH1	Q13635	p.Arg783Trp	RCV000460901	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467329G>A	ClinVar
PTCH1	Q13635	p.Arg783Trp	RCV000486747	missense variant	-	NC_000009.12:g.95467329G>A	ClinVar
PTCH1	Q13635	p.Glu784Lys	rs1169417540	missense variant	-	NC_000009.12:g.95467326C>T	gnomAD
PTCH1	Q13635	p.Glu787Asp	rs1159846014	missense variant	-	NC_000009.12:g.95467315T>G	TOPMed
PTCH1	Q13635	p.Glu787Asp	RCV000690135	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467315T>G	ClinVar
PTCH1	Q13635	p.Tyr788Asp	rs1454135593	missense variant	-	NC_000009.12:g.95467314A>C	gnomAD
PTCH1	Q13635	p.Phe790Leu	RCV000475269	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467306A>T	ClinVar
PTCH1	Q13635	p.Phe790Leu	rs1060502300	missense variant	-	NC_000009.12:g.95467306A>T	-
PTCH1	Q13635	p.Ala792Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95467302C>A	NCI-TCGA
PTCH1	Q13635	p.Ala793Thr	rs1554694390	missense variant	-	NC_000009.12:g.95467299C>T	-
PTCH1	Q13635	p.Ala793Thr	RCV000628427	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467299C>T	ClinVar
PTCH1	Q13635	p.Phe795Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95467291G>T	NCI-TCGA
PTCH1	Q13635	p.Tyr797Ter	RCV000230356	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95467285G>T	ClinVar
PTCH1	Q13635	p.Tyr797Ter	rs778260156	stop gained	-	NC_000009.12:g.95467285G>T	ExAC,gnomAD
PTCH1	Q13635	p.Tyr797His	rs1250426680	missense variant	-	NC_000009.12:g.95467287A>G	gnomAD
PTCH1	Q13635	p.Ser799Pro	rs1356433882	missense variant	-	NC_000009.12:g.95467281A>G	TOPMed
PTCH1	Q13635	p.Met803Thr	rs1554694376	missense variant	-	NC_000009.12:g.95467268A>G	-
PTCH1	Q13635	p.Met803Thr	RCV000544815	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467268A>G	ClinVar
PTCH1	Q13635	p.Ile805Thr	rs1339383116	missense variant	-	NC_000009.12:g.95467262A>G	gnomAD
PTCH1	Q13635	p.Ile805Val	RCV000628403	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467263T>C	ClinVar
PTCH1	Q13635	p.Ile805Val	rs1554694372	missense variant	-	NC_000009.12:g.95467263T>C	-
PTCH1	Q13635	p.Val806Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95467259A>G	NCI-TCGA
PTCH1	Q13635	p.Lys809Thr	COSM1463896	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95467250T>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ala810Val	rs1228732568	missense variant	-	NC_000009.12:g.95467247G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Pro813Ala	rs45579032	missense variant	-	NC_000009.12:g.95467239G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro813Ala	RCV000432257	missense variant	-	NC_000009.12:g.95467239G>C	ClinVar
PTCH1	Q13635	p.Asn814His	RCV000764845	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95467236T>G	ClinVar
PTCH1	Q13635	p.Asn814His	RCV000168036	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467236T>G	ClinVar
PTCH1	Q13635	p.Asn814His	rs754623561	missense variant	-	NC_000009.12:g.95467236T>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile815Val	rs375257965	missense variant	-	NC_000009.12:g.95467233T>C	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Ile815insIleProAsnIle	VAR_007845	inframe_insertion	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Gln816Arg	RCV000780652	missense variant	-	NC_000009.12:g.95467229T>C	ClinVar
PTCH1	Q13635	p.Gln816del	VAR_010977	inframe_deletion	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Leu818Ter	RCV000494629	nonsense	-	NC_000009.12:g.95467223A>C	ClinVar
PTCH1	Q13635	p.Leu818Ter	rs1131691630	stop gained	-	NC_000009.12:g.95467223A>C	-
PTCH1	Q13635	p.Leu819Phe	rs1215737141	missense variant	-	NC_000009.12:g.95467221G>A	TOPMed
PTCH1	Q13635	p.Asp821Asn	RCV000628357	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467215C>T	ClinVar
PTCH1	Q13635	p.Asp821Asn	rs762855028	missense variant	-	NC_000009.12:g.95467215C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.His823Tyr	rs370915763	missense variant	-	NC_000009.12:g.95467209G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Phe826Cys	rs1174748645	missense variant	-	NC_000009.12:g.95467199A>C	gnomAD
PTCH1	Q13635	p.Ser827Gly	rs199476092	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95467197T>C	UniProt,dbSNP
PTCH1	Q13635	p.Ser827Gly	VAR_032956	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95467197T>C	UniProt
PTCH1	Q13635	p.Ser827Gly	rs199476092	missense variant	-	NC_000009.12:g.95467197T>C	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser827Gly	RCV000034565	missense variant	-	NC_000009.12:g.95467197T>C	ClinVar
PTCH1	Q13635	p.Val829Met	rs201125580	missense variant	-	NC_000009.12:g.95467191C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val829Leu	rs201125580	missense variant	-	NC_000009.12:g.95467191C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val829Met	RCV000168321	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467191C>T	ClinVar
PTCH1	Q13635	p.Val829Met	rs201125580	missense variant	-	NC_000009.12:g.95467191C>T	UniProt,dbSNP
PTCH1	Q13635	p.Val829Met	VAR_010978	missense variant	-	NC_000009.12:g.95467191C>T	UniProt
PTCH1	Q13635	p.Val832Asp	rs786204167	missense variant	-	NC_000009.12:g.95467181A>T	-
PTCH1	Q13635	p.Val832Asp	RCV000168180	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467181A>T	ClinVar
PTCH1	Q13635	p.Val832Ile	rs1253407915	missense variant	-	NC_000009.12:g.95467182C>T	gnomAD
PTCH1	Q13635	p.Met833Val	RCV000628354	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467179T>C	ClinVar
PTCH1	Q13635	p.Met833Val	rs771222407	missense variant	-	NC_000009.12:g.95467179T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Met833Thr	rs1060502269	missense variant	-	NC_000009.12:g.95467178A>G	-
PTCH1	Q13635	p.Met833Thr	RCV000463190	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467178A>G	ClinVar
PTCH1	Q13635	p.Glu836Lys	rs78708791	missense variant	-	NC_000009.12:g.95467170C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu836Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95467169T>C	NCI-TCGA
PTCH1	Q13635	p.Glu836Lys	RCV000204507	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467170C>T	ClinVar
PTCH1	Q13635	p.Lys838Thr	rs1220749812	missense variant	-	NC_000009.12:g.95467163T>G	gnomAD
PTCH1	Q13635	p.Lys838Glu	rs1185902807	missense variant	-	NC_000009.12:g.95467164T>C	gnomAD
PTCH1	Q13635	p.Gln839Ter	RCV000688465	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95467161G>A	ClinVar
PTCH1	Q13635	p.Gln839Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95467161G>C	NCI-TCGA
PTCH1	Q13635	p.Met843Thr	rs145217620	missense variant	-	NC_000009.12:g.95467148A>G	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Tyr847Cys	rs1352235060	missense variant	-	NC_000009.12:g.95467136T>C	gnomAD
PTCH1	Q13635	p.Tyr847Ter	RCV000492310	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95467134_95467137delinsCT	ClinVar
PTCH1	Q13635	p.Tyr847Ter	RCV000202420	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95467134_95467137delinsCT	ClinVar
PTCH1	Q13635	p.Tyr847Ter	RCV000523820	nonsense	-	NC_000009.12:g.95467135G>C	ClinVar
PTCH1	Q13635	p.Leu852Pro	rs1554694254	missense variant	-	NC_000009.12:g.95467121A>G	-
PTCH1	Q13635	p.Leu852Pro	RCV000628363	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467121A>G	ClinVar
PTCH1	Q13635	p.Gln853Pro	RCV000492629	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95467118T>G	ClinVar
PTCH1	Q13635	p.Gln853Arg	RCV000121887	missense variant	-	NC_000009.12:g.95467118T>C	ClinVar
PTCH1	Q13635	p.Gln853Arg	rs587778628	missense variant	-	NC_000009.12:g.95467118T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gln853Pro	rs587778628	missense variant	-	NC_000009.12:g.95467118T>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly854Arg	COSM3780221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95467116C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Asp857Gly	rs763119366	missense variant	-	NC_000009.12:g.95461989T>C	ExAC,gnomAD
PTCH1	Q13635	p.Asp860Val	rs1411815126	missense variant	-	NC_000009.12:g.95461980T>A	TOPMed
PTCH1	Q13635	p.Asp860His	COSM3849167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95461981C>G	NCI-TCGA Cosmic
PTCH1	Q13635	p.Asp860Tyr	COSM5096304	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95461981C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Asp860ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95461980_95461981insA	NCI-TCGA
PTCH1	Q13635	p.Ser861Gly	rs1338982883	missense variant	-	NC_000009.12:g.95461978T>C	gnomAD
PTCH1	Q13635	p.Trp863Cys	rs1277861627	missense variant	-	NC_000009.12:g.95461970C>A	TOPMed
PTCH1	Q13635	p.Thr865Ala	rs1186399866	missense variant	-	NC_000009.12:g.95461966T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Gly866Glu	RCV000197593	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461962C>T	ClinVar
PTCH1	Q13635	p.Gly866Glu	rs863224651	missense variant	-	NC_000009.12:g.95461962C>T	gnomAD
PTCH1	Q13635	p.Gly866Arg	rs765578315	missense variant	-	NC_000009.12:g.95461963C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile868Ter	RCV000492664	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461963del	ClinVar
PTCH1	Q13635	p.Met869Lys	rs1345518847	missense variant	-	NC_000009.12:g.95461953A>T	TOPMed
PTCH1	Q13635	p.Met869IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95461952_95461953insA	NCI-TCGA
PTCH1	Q13635	p.Met869Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95461954T>C	NCI-TCGA
PTCH1	Q13635	p.Asn871Asp	rs777120634	missense variant	-	NC_000009.12:g.95461948T>C	ExAC,gnomAD
PTCH1	Q13635	p.Asn871Tyr	rs777120634	missense variant	-	NC_000009.12:g.95461948T>A	ExAC,gnomAD
PTCH1	Q13635	p.Asn872Ser	rs769029578	missense variant	-	NC_000009.12:g.95461944T>C	ExAC,gnomAD
PTCH1	Q13635	p.Tyr873Ter	rs1554692291	stop gained	-	NC_000009.12:g.95461940G>C	-
PTCH1	Q13635	p.Tyr873Ter	RCV000544181	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95461940G>C	ClinVar
PTCH1	Q13635	p.Asn875Ser	rs1405372916	missense variant	-	NC_000009.12:g.95461935T>C	gnomAD
PTCH1	Q13635	p.Gly876Ter	rs1131691758	stop gained	-	NC_000009.12:g.95461933C>A	-
PTCH1	Q13635	p.Gly876Ter	RCV000493515	nonsense	-	NC_000009.12:g.95461933C>A	ClinVar
PTCH1	Q13635	p.Asp878Glu	rs771732591	missense variant	-	NC_000009.12:g.95461925G>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp878Glu	RCV000566149	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461925G>T	ClinVar
PTCH1	Q13635	p.Asp878Glu	RCV000556427	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461925G>T	ClinVar
PTCH1	Q13635	p.Asp879Asn	RCV000761176	missense variant	B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21	NC_000009.12:g.95461924C>T	ClinVar
PTCH1	Q13635	p.Asp879Asn	RCV000571728	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461924C>T	ClinVar
PTCH1	Q13635	p.Asp879Asn	RCV000764844	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461924C>T	ClinVar
PTCH1	Q13635	p.Asp879Asn	RCV000200138	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461924C>T	ClinVar
PTCH1	Q13635	p.Asp879Asn	rs750373573	missense variant	-	NC_000009.12:g.95461924C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly880Val	rs971300374	missense variant	-	NC_000009.12:g.95461920C>A	TOPMed
PTCH1	Q13635	p.Gly880Ter	RCV000532631	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95461921del	ClinVar
PTCH1	Q13635	p.Lys885Arg	rs1272128871	missense variant	-	NC_000009.12:g.95461905T>C	gnomAD
PTCH1	Q13635	p.Lys885Ile	RCV000571546	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461905T>A	ClinVar
PTCH1	Q13635	p.Lys885Ile	rs1272128871	missense variant	-	NC_000009.12:g.95461905T>A	gnomAD
PTCH1	Q13635	p.Leu886Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95461902A>G	NCI-TCGA
PTCH1	Q13635	p.Gly891Ser	RCV000764843	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95461888C>T	ClinVar
PTCH1	Q13635	p.Gly891Ser	rs570091335	missense variant	-	NC_000009.12:g.95461888C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly891Ser	RCV000205792	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461888C>T	ClinVar
PTCH1	Q13635	p.Gly891Ser	RCV000492234	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461888C>T	ClinVar
PTCH1	Q13635	p.Ser892Arg	rs1427672162	missense variant	-	NC_000009.12:g.95461883G>C	TOPMed
PTCH1	Q13635	p.Ser892Arg	RCV000702656	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461883G>C	ClinVar
PTCH1	Q13635	p.Arg893His	rs138154222	missense variant	-	NC_000009.12:g.95461881C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg893Cys	rs753008328	missense variant	-	NC_000009.12:g.95461882G>A	ExAC,gnomAD
PTCH1	Q13635	p.Arg893His	RCV000364653	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461881C>T	ClinVar
PTCH1	Q13635	p.Asp894Asn	RCV000569148	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461879C>T	ClinVar
PTCH1	Q13635	p.Asp894Asn	rs56173896	missense variant	-	NC_000009.12:g.95461879C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile897Val	rs758483793	missense variant	-	NC_000009.12:g.95461870T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile897Val	RCV000477404	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461870T>C	ClinVar
PTCH1	Q13635	p.Asp898Asn	rs531947455	missense variant	-	NC_000009.12:g.95461867C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp898Asn	RCV000197362	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461867C>T	ClinVar
PTCH1	Q13635	p.Ile899Val	RCV000791706	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461864T>C	ClinVar
PTCH1	Q13635	p.Ile899Val	rs765371196	missense variant	-	NC_000009.12:g.95461864T>C	ExAC,gnomAD
PTCH1	Q13635	p.Ser900Asn	rs762152128	missense variant	-	NC_000009.12:g.95461860C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ser900Gly	rs1369362346	missense variant	-	NC_000009.12:g.95461861T>C	gnomAD
PTCH1	Q13635	p.Gln901Ter	rs1064796618	stop gained	-	NC_000009.12:g.95461858G>A	-
PTCH1	Q13635	p.Gln901Ter	RCV000480196	nonsense	-	NC_000009.12:g.95461858G>A	ClinVar
PTCH1	Q13635	p.Gln901His	COSM1111468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95461856C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu902Phe	rs993814839	missense variant	-	NC_000009.12:g.95459781C>G	gnomAD
PTCH1	Q13635	p.Thr903Ser	RCV000707034	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459779G>C	ClinVar
PTCH1	Q13635	p.Gln905Lys	rs864622088	missense variant	-	NC_000009.12:g.95459774G>T	gnomAD
PTCH1	Q13635	p.Gln905Lys	RCV000205429	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459774G>T	ClinVar
PTCH1	Q13635	p.Gln905Ter	RCV000657474	frameshift	-	NC_000009.12:g.95459777dup	ClinVar
PTCH1	Q13635	p.Arg906His	rs764310195	missense variant	-	NC_000009.12:g.95459770C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val908Gly	rs199476093	missense variant	-	NC_000009.12:g.95459764A>C	-
PTCH1	Q13635	p.Val908Gly	rs199476093	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95459764A>C	UniProt,dbSNP
PTCH1	Q13635	p.Val908Gly	VAR_032957	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95459764A>C	UniProt
PTCH1	Q13635	p.Val908Gly	RCV000008708	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95459764A>C	ClinVar
PTCH1	Q13635	p.Ala910Thr	rs761127231	missense variant	-	NC_000009.12:g.95459759C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ala910Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95459758G>A	NCI-TCGA
PTCH1	Q13635	p.Gly912Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95459752C>A	NCI-TCGA
PTCH1	Q13635	p.Ile913Val	rs147643145	missense variant	-	NC_000009.12:g.95459750T>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile914Val	rs1441750517	missense variant	-	NC_000009.12:g.95459747T>C	TOPMed
PTCH1	Q13635	p.Ala918Thr	COSM3909161	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95459735C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ile921Val	rs760174192	missense variant	-	NC_000009.12:g.95459726T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile921Thr	rs773706968	missense variant	-	NC_000009.12:g.95459725A>G	ExAC,gnomAD
PTCH1	Q13635	p.Ile921Met	RCV000692152	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459724G>C	ClinVar
PTCH1	Q13635	p.Ile921Val	RCV000463361	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459726T>C	ClinVar
PTCH1	Q13635	p.Thr924Ter	RCV000492511	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459723_95459726dup	ClinVar
PTCH1	Q13635	p.Thr924Met	rs1456450494	missense variant	-	NC_000009.12:g.95459716G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Val927Ile	rs1554691693	missense variant	-	NC_000009.12:g.95459708C>T	-
PTCH1	Q13635	p.Val927Ile	RCV000562669	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459708C>T	ClinVar
PTCH1	Q13635	p.Ser928Gly	RCV000168358	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459705T>C	ClinVar
PTCH1	Q13635	p.Ser928Thr	RCV000628423	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459704C>G	ClinVar
PTCH1	Q13635	p.Ser928Thr	rs1554691690	missense variant	-	NC_000009.12:g.95459704C>G	-
PTCH1	Q13635	p.Ser928Gly	rs786204224	missense variant	-	NC_000009.12:g.95459705T>C	gnomAD
PTCH1	Q13635	p.Ser928Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95459704C>T	NCI-TCGA
PTCH1	Q13635	p.Asp930Asn	rs539755311	missense variant	-	NC_000009.12:g.95459699C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp930Val	rs1297881578	missense variant	-	NC_000009.12:g.95459698T>A	TOPMed,gnomAD
PTCH1	Q13635	p.Pro931Arg	rs772928587	missense variant	-	NC_000009.12:g.95459695G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro931Arg	RCV000535608	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459695G>C	ClinVar
PTCH1	Q13635	p.Val932Ile	rs376084632	missense variant	-	NC_000009.12:g.95459693C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val932Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95459692A>T	NCI-TCGA
PTCH1	Q13635	p.Val932Ile	RCV000628350	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459693C>T	ClinVar
PTCH1	Q13635	p.Val932Ter	RCV000492384	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459693del	ClinVar
PTCH1	Q13635	p.Ala933Thr	RCV000822888	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459690C>T	ClinVar
PTCH1	Q13635	p.Ala933Val	rs768558478	missense variant	-	NC_000009.12:g.95459689G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala933Thr	RCV000568877	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459690C>T	ClinVar
PTCH1	Q13635	p.Ala933Thr	rs373120584	missense variant	-	NC_000009.12:g.95459690C>T	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Tyr934Phe	rs1209943415	missense variant	-	NC_000009.12:g.95459686T>A	TOPMed,gnomAD
PTCH1	Q13635	p.Tyr934Ter	RCV000706911	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95459685A>C	ClinVar
PTCH1	Q13635	p.Tyr934Ter	RCV000199981	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95459688del	ClinVar
PTCH1	Q13635	p.Ala935Pro	rs1554691676	missense variant	-	NC_000009.12:g.95459684C>G	-
PTCH1	Q13635	p.Ala935Pro	RCV000575593	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459684C>G	ClinVar
PTCH1	Q13635	p.Gln938Glu	rs778810550	missense variant	-	NC_000009.12:g.95459675G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asn940Ser	rs749406453	missense variant	-	NC_000009.12:g.95459668T>C	ExAC,gnomAD
PTCH1	Q13635	p.Asn940Asp	RCV000703762	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459669T>C	ClinVar
PTCH1	Q13635	p.Ile941Phe	rs1434126591	missense variant	-	NC_000009.12:g.95459666T>A	gnomAD
PTCH1	Q13635	p.Arg942Trp	rs756465236	missense variant	-	NC_000009.12:g.95459663G>A	ExAC,gnomAD
PTCH1	Q13635	p.His944Arg	rs1322263418	missense variant	-	NC_000009.12:g.95459656T>C	gnomAD
PTCH1	Q13635	p.Arg945Gly	rs1064794260	missense variant	-	NC_000009.12:g.95459654G>C	gnomAD
PTCH1	Q13635	p.Arg945Leu	rs201118857	missense variant	-	NC_000009.12:g.95459653C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg945Ter	RCV000492276	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459654G>A	ClinVar
PTCH1	Q13635	p.Arg945Ter	RCV000479378	nonsense	-	NC_000009.12:g.95459654G>A	ClinVar
PTCH1	Q13635	p.Arg945Ter	RCV000655932	frameshift	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95459653delinsGGGTCCACAACATCT	ClinVar
PTCH1	Q13635	p.Arg945Gln	rs201118857	missense variant	-	NC_000009.12:g.95459653C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg945Gln	RCV000034568	missense variant	-	NC_000009.12:g.95459653C>T	ClinVar
PTCH1	Q13635	p.Arg945Gln	RCV000195909	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459653C>T	ClinVar
PTCH1	Q13635	p.Arg945Ter	rs1064794260	stop gained	-	NC_000009.12:g.95459654G>A	gnomAD
PTCH1	Q13635	p.Glu947Gln	rs768039033	missense variant	-	NC_000009.12:g.95459648C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Trp948Ter	RCV000196749	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95459639_95459646del	ClinVar
PTCH1	Q13635	p.Asp951Gly	rs752126122	missense variant	-	NC_000009.12:g.95459635T>C	ExAC,gnomAD
PTCH1	Q13635	p.Ala953Thr	rs765746826	missense variant	-	NC_000009.12:g.95459630C>T	ExAC,gnomAD
PTCH1	Q13635	p.Asp954Ter	RCV000485865	nonsense	-	NC_000009.12:g.95459618_95459627delinsACTA	ClinVar
PTCH1	Q13635	p.Asp954Asn	rs772662871	missense variant	-	NC_000009.12:g.95459627C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp954Asn	RCV000628338	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459627C>T	ClinVar
PTCH1	Q13635	p.AspTyrMetPro954TerSer	rs1064793991	stop gained	-	NC_000009.12:g.95459618_95459627delinsACTA	-
PTCH1	Q13635	p.Met956Ile	rs761501958	missense variant	-	NC_000009.12:g.95459619C>T	ExAC,gnomAD
PTCH1	Q13635	p.Met956Val	rs587780699	missense variant	-	NC_000009.12:g.95459621T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Met956Val	RCV000123017	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459621T>C	ClinVar
PTCH1	Q13635	p.Met956Val	RCV000566411	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459621T>C	ClinVar
PTCH1	Q13635	p.Pro957Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95459618G>A	NCI-TCGA
PTCH1	Q13635	p.Pro957His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95459617G>T	NCI-TCGA
PTCH1	Q13635	p.Pro957Arg	rs1376533047	missense variant	-	NC_000009.12:g.95459617G>C	TOPMed
PTCH1	Q13635	p.Thr959Ile	rs776378611	missense variant	-	NC_000009.12:g.95459611G>A	ExAC,gnomAD
PTCH1	Q13635	p.Thr959Arg	rs776378611	missense variant	-	NC_000009.12:g.95459611G>C	ExAC,gnomAD
PTCH1	Q13635	p.Ile963Met	RCV000229031	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458292G>C	ClinVar
PTCH1	Q13635	p.Ile963Met	rs878853853	missense variant	-	NC_000009.12:g.95458292G>C	-
PTCH1	Q13635	p.Pro964Leu	rs377120922	missense variant	-	NC_000009.12:g.95458290G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro964Leu	RCV000628391	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458290G>A	ClinVar
PTCH1	Q13635	p.Ala966Thr	rs1253559528	missense variant	-	NC_000009.12:g.95458285C>T	gnomAD
PTCH1	Q13635	p.Ala966Gly	rs1381484167	missense variant	-	NC_000009.12:g.95458284G>C	TOPMed
PTCH1	Q13635	p.Glu967Ter	rs886041943	stop gained	-	NC_000009.12:g.95458282C>A	-
PTCH1	Q13635	p.Glu967Ter	RCV000332048	nonsense	-	NC_000009.12:g.95458282C>A	ClinVar
PTCH1	Q13635	p.Pro968Arg	rs770020639	missense variant	-	NC_000009.12:g.95458278G>C	ExAC,gnomAD
PTCH1	Q13635	p.Glu970Lys	rs1201956507	missense variant	-	NC_000009.12:g.95458273C>T	gnomAD
PTCH1	Q13635	p.Glu970Lys	RCV000549591	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458273C>T	ClinVar
PTCH1	Q13635	p.Gln973His	RCV000701427	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458262C>A	ClinVar
PTCH1	Q13635	p.Phe974Leu	rs747385350	missense variant	-	NC_000009.12:g.95458259G>C	ExAC,gnomAD
PTCH1	Q13635	p.Phe976Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95458255A>G	NCI-TCGA
PTCH1	Q13635	p.Tyr977His	rs587780700	missense variant	-	NC_000009.12:g.95458252A>G	ExAC,gnomAD
PTCH1	Q13635	p.Tyr977His	RCV000123019	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458252A>G	ClinVar
PTCH1	Q13635	p.Leu978Pro	RCV000197768	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458248A>G	ClinVar
PTCH1	Q13635	p.Leu978Ter	RCV000525437	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95458249_95458250insTCTAC	ClinVar
PTCH1	Q13635	p.Leu978Pro	rs863224652	missense variant	-	NC_000009.12:g.95458248A>G	-
PTCH1	Q13635	p.Asn979Ser	RCV000542578	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458245T>C	ClinVar
PTCH1	Q13635	p.Asn979Ser	rs758907408	missense variant	-	NC_000009.12:g.95458245T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly980Ser	rs778337760	missense variant	-	NC_000009.12:g.95458243C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly980Cys	COSM1111453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458243C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu981Phe	rs753414816	missense variant	-	NC_000009.12:g.95458238C>A	ExAC,gnomAD
PTCH1	Q13635	p.Arg982Trp	rs867973996	missense variant	-	NC_000009.12:g.95458237G>A	gnomAD
PTCH1	Q13635	p.Arg982Gln	RCV000553221	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458236C>T	ClinVar
PTCH1	Q13635	p.Arg982Gln	rs145924695	missense variant	-	NC_000009.12:g.95458236C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg982Gln	RCV000148763	missense variant	Congenital heart disease (CHD)	NC_000009.12:g.95458236C>T	ClinVar
PTCH1	Q13635	p.Asp983Asn	COSM6184363	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458234C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ser985Leu	RCV000628368	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458227G>A	ClinVar
PTCH1	Q13635	p.Ser985Leu	rs760297274	missense variant	-	NC_000009.12:g.95458227G>A	ExAC,gnomAD
PTCH1	Q13635	p.Val988Glu	COSM4947171	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458218A>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Val988Leu	rs1257244317	missense variant	-	NC_000009.12:g.95458219C>A	TOPMed
PTCH1	Q13635	p.Glu989Lys	rs1472299295	missense variant	-	NC_000009.12:g.95458216C>T	gnomAD
PTCH1	Q13635	p.Ala990Thr	rs1235316882	missense variant	-	NC_000009.12:g.95458213C>T	gnomAD
PTCH1	Q13635	p.Ile991Val	rs1189382722	missense variant	-	NC_000009.12:g.95458210T>C	gnomAD
PTCH1	Q13635	p.Glu992Ter	RCV000461636	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95458207C>A	ClinVar
PTCH1	Q13635	p.Glu992Ter	rs1060502278	stop gained	-	NC_000009.12:g.95458207C>A	-
PTCH1	Q13635	p.Glu992Gly	rs767250750	missense variant	-	NC_000009.12:g.95458206T>C	ExAC,gnomAD
PTCH1	Q13635	p.Ile997Val	RCV000460986	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458192T>C	ClinVar
PTCH1	Q13635	p.Ile997Val	rs774440323	missense variant	-	NC_000009.12:g.95458192T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser999Arg	rs1181905241	missense variant	-	NC_000009.12:g.95458186T>G	TOPMed
PTCH1	Q13635	p.Tyr1001Ter	rs1060502298	stop gained	-	NC_000009.12:g.95458178A>T	-
PTCH1	Q13635	p.Tyr1001Ter	RCV000461102	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95458178A>T	ClinVar
PTCH1	Q13635	p.Thr1002Met	rs769924767	missense variant	-	NC_000009.12:g.95458176G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr1002Met	RCV000469771	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458176G>A	ClinVar
PTCH1	Q13635	p.Ser1003Asn	rs769866360	missense variant	-	NC_000009.12:g.95458173C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1003Asn	RCV000628372	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458173C>T	ClinVar
PTCH1	Q13635	p.Leu1004Arg	RCV000686585	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458170A>C	ClinVar
PTCH1	Q13635	p.Leu1004Val	rs864622620	missense variant	-	NC_000009.12:g.95458171G>C	-
PTCH1	Q13635	p.Leu1004Val	RCV000206746	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458171G>C	ClinVar
PTCH1	Q13635	p.Gly1005Arg	rs768898370	missense variant	-	NC_000009.12:g.95458168C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ser1008Ile	rs1286123273	missense variant	-	NC_000009.12:g.95458158C>A	gnomAD
PTCH1	Q13635	p.Ser1008Asn	COSM487707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458158C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Tyr1009Ter	RCV000492224	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95458154G>T	ClinVar
PTCH1	Q13635	p.Tyr1009Ter	rs747234651	stop gained	-	NC_000009.12:g.95458154G>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asn1011Ser	rs780425276	missense variant	-	NC_000009.12:g.95458149T>C	ExAC
PTCH1	Q13635	p.Gly1012Ser	rs187813269	missense variant	-	NC_000009.12:g.95458147C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Tyr1013Ter	rs779388970	stop gained	-	NC_000009.12:g.95458142G>T	ExAC,gnomAD
PTCH1	Q13635	p.Pro1014Leu	rs1404012576	missense variant	-	NC_000009.12:g.95458140G>A	TOPMed
PTCH1	Q13635	p.Pro1014Leu	RCV000529338	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458140G>A	ClinVar
PTCH1	Q13635	p.Phe1015Ter	RCV000255395	frameshift	-	NC_000009.12:g.95458113_95458140del	ClinVar
PTCH1	Q13635	p.Phe1015Ter	RCV000255967	frameshift	-	NC_000009.12:g.95458142del	ClinVar
PTCH1	Q13635	p.Phe1015Ile	rs1318411238	missense variant	-	NC_000009.12:g.95458138A>T	gnomAD
PTCH1	Q13635	p.Leu1016Phe	rs374575067	missense variant	-	NC_000009.12:g.95458135G>A	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Trp1018Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95458128C>A	NCI-TCGA
PTCH1	Q13635	p.Gln1020SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95458123G>-	NCI-TCGA
PTCH1	Q13635	p.Gln1020Arg	rs1444833702	missense variant	-	NC_000009.12:g.95458122T>C	gnomAD
PTCH1	Q13635	p.Ile1022Val	rs1003711941	missense variant	-	NC_000009.12:g.95458117T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Ile1022Leu	rs1003711941	missense variant	-	NC_000009.12:g.95458117T>G	TOPMed,gnomAD
PTCH1	Q13635	p.Gly1023Ser	RCV000628420	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458114C>T	ClinVar
PTCH1	Q13635	p.Gly1023Ser	rs752317944	missense variant	-	NC_000009.12:g.95458114C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1023Cys	COSM6184367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458114C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu1024Val	rs759405378	missense variant	-	NC_000009.12:g.95458111G>C	ExAC,gnomAD
PTCH1	Q13635	p.Leu1024Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95458111G>T	NCI-TCGA
PTCH1	Q13635	p.Leu1024Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95458111G>A	NCI-TCGA
PTCH1	Q13635	p.Arg1025Pro	rs370150142	missense variant	-	NC_000009.12:g.95458107C>G	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1025His	RCV000205211	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458107C>T	ClinVar
PTCH1	Q13635	p.Arg1025His	rs370150142	missense variant	-	NC_000009.12:g.95458107C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.His1026Arg	rs763031827	missense variant	-	NC_000009.12:g.95458104T>C	ExAC,gnomAD
PTCH1	Q13635	p.Leu1029Val	rs776739985	missense variant	-	NC_000009.12:g.95458096G>C	ExAC,gnomAD
PTCH1	Q13635	p.Leu1030Val	rs1040729718	missense variant	-	NC_000009.12:g.95458093G>C	TOPMed,gnomAD
PTCH1	Q13635	p.Phe1031Val	rs1255292994	missense variant	-	NC_000009.12:g.95458090A>C	gnomAD
PTCH1	Q13635	p.Val1034Met	rs760902564	missense variant	-	NC_000009.12:g.95458081C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1034Met	RCV000205641	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458081C>T	ClinVar
PTCH1	Q13635	p.Leu1036Ter	rs1554691359	stop gained	-	NC_000009.12:g.95458074A>T	-
PTCH1	Q13635	p.Leu1036Ter	RCV000622424	nonsense	Inborn genetic diseases	NC_000009.12:g.95458074A>T	ClinVar
PTCH1	Q13635	p.Val1042Met	RCV000204587	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458057C>T	ClinVar
PTCH1	Q13635	p.Val1042Met	rs772406487	missense variant	-	NC_000009.12:g.95458057C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Cys1043Trp	rs746220311	missense variant	-	NC_000009.12:g.95458052G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Cys1043Phe	rs1345405015	missense variant	-	NC_000009.12:g.95458053C>A	TOPMed,gnomAD
PTCH1	Q13635	p.Cys1043Ter	RCV000530698	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95458056dup	ClinVar
PTCH1	Q13635	p.Ala1044Ser	rs138458710	missense variant	-	NC_000009.12:g.95458051C>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1044Thr	rs138458710	missense variant	-	NC_000009.12:g.95458051C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1044Thr	RCV000797992	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458051C>T	ClinVar
PTCH1	Q13635	p.Ala1044Thr	RCV000573885	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95458051C>T	ClinVar
PTCH1	Q13635	p.Phe1046Ile	RCV000685573	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458045A>T	ClinVar
PTCH1	Q13635	p.Phe1046Ter	RCV000492189	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95458039_95458042GAAG[1]	ClinVar
PTCH1	Q13635	p.Leu1047Ile	rs1053698119	missense variant	-	NC_000009.12:g.95458042G>T	TOPMed
PTCH1	Q13635	p.Pro1050Leu	rs1420175816	missense variant	-	NC_000009.12:g.95458032G>A	gnomAD
PTCH1	Q13635	p.Pro1050Leu	RCV000694954	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458032G>A	ClinVar
PTCH1	Q13635	p.Trp1051Ter	rs1060502301	stop gained	-	NC_000009.12:g.95458029C>T	-
PTCH1	Q13635	p.Trp1051Gly	RCV000702049	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458030A>C	ClinVar
PTCH1	Q13635	p.Trp1051Ter	RCV000477420	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95458029C>T	ClinVar
PTCH1	Q13635	p.Trp1051Ter	RCV000492750	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95458029C>T	ClinVar
PTCH1	Q13635	p.Thr1052Met	RCV000034570	missense variant	-	NC_000009.12:g.95458026G>A	ClinVar
PTCH1	Q13635	p.Thr1052Met	rs138911275	missense variant	-	NC_000009.12:g.95458026G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr1052Met	rs138911275	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95458026G>A	UniProt,dbSNP
PTCH1	Q13635	p.Thr1052Met	VAR_032958	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95458026G>A	UniProt
PTCH1	Q13635	p.Ile1056Val	rs1482854138	missense variant	-	NC_000009.12:g.95458015T>C	gnomAD
PTCH1	Q13635	p.Ala1061Ser	rs767617256	missense variant	-	NC_000009.12:g.95456401C>A	ExAC,gnomAD
PTCH1	Q13635	p.Ala1061Thr	rs767617256	missense variant	-	NC_000009.12:g.95456401C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ala1061Val	rs1409913416	missense variant	-	NC_000009.12:g.95456400G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Met1063Thr	rs1260702127	missense variant	-	NC_000009.12:g.95456394A>G	TOPMed,gnomAD
PTCH1	Q13635	p.Met1063AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95456396_95456397insG	NCI-TCGA
PTCH1	Q13635	p.Thr1064Met	rs368417828	missense variant	-	NC_000009.12:g.95456391G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr1064Met	RCV000456174	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456391G>A	ClinVar
PTCH1	Q13635	p.del1065ProAlaGlnIleIlePhePheLeuTerAlaGlyArgUnk	rs1255655270	stop gained	-	NC_000009.12:g.95456389_95456390insTCCTCCCAGCTCAAAGGAAGAAAATAATTTGAGCAGG	gnomAD
PTCH1	Q13635	p.Val1065Gly	rs1180496565	missense variant	-	NC_000009.12:g.95456388A>C	gnomAD
PTCH1	Q13635	p.Val1065Phe	COSM6116548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95456389C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Glu1066Lys	COSM3849159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95456386C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Phe1068Leu	rs762419846	missense variant	-	NC_000009.12:g.95456378G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Phe1068Leu	rs762419846	missense variant	-	NC_000009.12:g.95456378G>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Phe1068Leu	RCV000628340	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456378G>C	ClinVar
PTCH1	Q13635	p.Gly1069Arg	VAR_010979	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Met1070Val	rs768302786	missense variant	-	NC_000009.12:g.95456374T>C	ExAC,gnomAD
PTCH1	Q13635	p.Met1070Val	RCV000531777	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456374T>C	ClinVar
PTCH1	Q13635	p.Met1071Val	rs559317040	missense variant	-	NC_000009.12:g.95456371T>C	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Met1071Leu	rs559317040	missense variant	-	NC_000009.12:g.95456371T>A	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Gly1072Cys	rs779857568	missense variant	-	NC_000009.12:g.95456368C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1072Ser	rs779857568	missense variant	-	NC_000009.12:g.95456368C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu1073Val	rs1336953843	missense variant	-	NC_000009.12:g.95456365G>C	TOPMed
PTCH1	Q13635	p.Ile1074Val	rs745626835	missense variant	-	NC_000009.12:g.95456362T>C	ExAC,gnomAD
PTCH1	Q13635	p.Gly1075Arg	COSM456291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95456359C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ile1076Val	rs753833857	missense variant	-	NC_000009.12:g.95456356T>C	ExAC,gnomAD
PTCH1	Q13635	p.Leu1078Pro	rs1554691033	missense variant	-	NC_000009.12:g.95456349A>G	-
PTCH1	Q13635	p.Leu1078Pro	RCV000544674	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456349A>G	ClinVar
PTCH1	Q13635	p.Ser1079Asn	rs1386356151	missense variant	-	NC_000009.12:g.95456346C>T	gnomAD
PTCH1	Q13635	p.Ala1080Val	rs781188522	missense variant	-	NC_000009.12:g.95456343G>A	ExAC,gnomAD
PTCH1	Q13635	p.Ala1080Val	RCV000556979	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456343G>A	ClinVar
PTCH1	Q13635	p.Val1081Met	rs587778629	missense variant	-	NC_000009.12:g.95456341C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1081Met	RCV000207354	missense variant	-	NC_000009.12:g.95456341C>T	ClinVar
PTCH1	Q13635	p.Val1083Met	RCV000537682	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456335C>T	ClinVar
PTCH1	Q13635	p.Val1083Met	RCV000034571	missense variant	-	NC_000009.12:g.95456335C>T	ClinVar
PTCH1	Q13635	p.Val1083Met	rs202052415	missense variant	-	NC_000009.12:g.95456335C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1083insValVal	VAR_007846	duplication	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Val1084Ala	RCV000550609	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456331A>G	ClinVar
PTCH1	Q13635	p.Val1084Ala	rs1463935039	missense variant	-	NC_000009.12:g.95456331A>G	TOPMed,gnomAD
PTCH1	Q13635	p.Ile1085Thr	rs762179580	missense variant	-	NC_000009.12:g.95456328A>G	ExAC,gnomAD
PTCH1	Q13635	p.Ala1088Thr	rs150217389	missense variant	-	NC_000009.12:g.95456320C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1088Thr	RCV000472932	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456320C>T	ClinVar
PTCH1	Q13635	p.Ser1089Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95456316G>T	NCI-TCGA
PTCH1	Q13635	p.Val1090Leu	rs775188592	missense variant	-	NC_000009.12:g.95456314C>G	ExAC,gnomAD
PTCH1	Q13635	p.Ile1092Met	rs1227312736	missense variant	-	NC_000009.12:g.95456306T>C	gnomAD
PTCH1	Q13635	p.Gly1093Ter	COSM88149	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95456305C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Glu1095Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95456299C>G	NCI-TCGA
PTCH1	Q13635	p.Glu1095Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.95456299C>A	NCI-TCGA
PTCH1	Q13635	p.Val1098Ile	RCV000628342	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456290C>T	ClinVar
PTCH1	Q13635	p.Val1098Ala	rs1291842090	missense variant	-	NC_000009.12:g.95456289A>G	TOPMed,gnomAD
PTCH1	Q13635	p.Val1098Ile	rs748726158	missense variant	-	NC_000009.12:g.95456290C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1098Ala	RCV000690691	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456289A>G	ClinVar
PTCH1	Q13635	p.His1099Asp	rs1426410745	missense variant	-	NC_000009.12:g.95456287G>C	TOPMed
PTCH1	Q13635	p.Val1100Ile	RCV000462088	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456284C>T	ClinVar
PTCH1	Q13635	p.Val1100Ile	rs577110118	missense variant	-	NC_000009.12:g.95456284C>T	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Ala1101Ser	COSM72330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95456281C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Leu1102Val	RCV000799469	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456278A>C	ClinVar
PTCH1	Q13635	p.Leu1102Val	rs1554690984	missense variant	-	NC_000009.12:g.95456278A>C	-
PTCH1	Q13635	p.Leu1102Val	RCV000565350	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95456278A>C	ClinVar
PTCH1	Q13635	p.Leu1102Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95456276C>A	NCI-TCGA
PTCH1	Q13635	p.Leu1102PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95456276_95456277insA	NCI-TCGA
PTCH1	Q13635	p.Phe1104Leu	rs1554690489	missense variant	-	NC_000009.12:g.95453615A>T	-
PTCH1	Q13635	p.Phe1104Leu	RCV000660493	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453615A>T	ClinVar
PTCH1	Q13635	p.Thr1106Met	RCV000204886	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453610G>A	ClinVar
PTCH1	Q13635	p.Thr1106Met	rs769691754	missense variant	-	NC_000009.12:g.95453610G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr1106Ter	RCV000657455	frameshift	-	NC_000009.12:g.95453613dup	ClinVar
PTCH1	Q13635	p.Ile1108Val	RCV000465324	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453605T>C	ClinVar
PTCH1	Q13635	p.Ile1108Val	rs866037881	missense variant	-	NC_000009.12:g.95453605T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Ile1108Met	rs748117539	missense variant	-	NC_000009.12:g.95453603G>C	ExAC,gnomAD
PTCH1	Q13635	p.Gly1109Ser	rs1344231723	missense variant	-	NC_000009.12:g.95453602C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Asp1110Asn	rs911494100	missense variant	-	NC_000009.12:g.95453599C>T	gnomAD
PTCH1	Q13635	p.Asn1112Ser	rs1225462094	missense variant	-	NC_000009.12:g.95453592T>C	gnomAD
PTCH1	Q13635	p.Arg1113Cys	rs758520331	missense variant	-	NC_000009.12:g.95453590G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1113His	RCV000204267	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453589C>T	ClinVar
PTCH1	Q13635	p.Arg1113His	rs143781513	missense variant	-	NC_000009.12:g.95453589C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1114Trp	RCV000008703	missense variant	Basal cell carcinoma, somatic	NC_000009.12:g.95453587T>A	ClinVar
PTCH1	Q13635	p.Arg1114Trp	rs587776689	missense variant	Basal cell nevus syndrome (BCNS)	NC_000009.12:g.95453587T>A	UniProt,dbSNP
PTCH1	Q13635	p.Arg1114Trp	VAR_007847	missense variant	Basal cell nevus syndrome (BCNS)	NC_000009.12:g.95453587T>A	UniProt
PTCH1	Q13635	p.Arg1114Trp	rs587776689	missense variant	-	NC_000009.12:g.95453587T>A	TOPMed
PTCH1	Q13635	p.Ala1115Val	rs779192138	missense variant	-	NC_000009.12:g.95453583G>A	ExAC,gnomAD
PTCH1	Q13635	p.Val1116Leu	rs201605273	missense variant	-	NC_000009.12:g.95453581C>G	ExAC,gnomAD
PTCH1	Q13635	p.Val1116Met	RCV000558601	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453581C>T	ClinVar
PTCH1	Q13635	p.Val1116Glu	RCV000199513	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453580A>T	ClinVar
PTCH1	Q13635	p.Val1116Glu	rs863224653	missense variant	-	NC_000009.12:g.95453580A>T	TOPMed,gnomAD
PTCH1	Q13635	p.Val1116Met	rs201605273	missense variant	-	NC_000009.12:g.95453581C>T	ExAC,gnomAD
PTCH1	Q13635	p.Leu1117Phe	rs1395751628	missense variant	-	NC_000009.12:g.95453578G>A	gnomAD
PTCH1	Q13635	p.Ala1118Ser	rs754222483	missense variant	-	NC_000009.12:g.95453575C>A	ExAC,gnomAD
PTCH1	Q13635	p.Met1122Lys	rs929802114	missense variant	-	NC_000009.12:g.95453562A>T	TOPMed
PTCH1	Q13635	p.Met1122Ter	RCV000492549	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453562_95453563del	ClinVar
PTCH1	Q13635	p.Met1122Ter	RCV000466769	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95453562_95453563del	ClinVar
PTCH1	Q13635	p.Ala1124Val	rs374187104	missense variant	-	NC_000009.12:g.95453556G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1125Leu	rs1429444084	missense variant	-	NC_000009.12:g.95453553G>A	gnomAD
PTCH1	Q13635	p.Val1126Ile	rs147025073	missense variant	-	NC_000009.12:g.95453551C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1126Ile	RCV000167898	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453551C>T	ClinVar
PTCH1	Q13635	p.Val1126Ile	RCV000575313	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453551C>T	ClinVar
PTCH1	Q13635	p.Gly1129Asp	COSM1463828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95453541C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ala1130Ser	rs766037357	missense variant	-	NC_000009.12:g.95453539C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1130Thr	rs766037357	missense variant	-	NC_000009.12:g.95453539C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1130Thr	RCV000196599	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453539C>T	ClinVar
PTCH1	Q13635	p.Val1131Met	rs566619057	missense variant	-	NC_000009.12:g.95453536C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1131Ala	rs1467320686	missense variant	-	NC_000009.12:g.95453535A>G	gnomAD
PTCH1	Q13635	p.Val1131Met	RCV000551653	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453536C>T	ClinVar
PTCH1	Q13635	p.Ser1132Pro	RCV000226160	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453533A>G	ClinVar
PTCH1	Q13635	p.Ser1132Pro	rs878853856	missense variant	-	NC_000009.12:g.95453533A>G	-
PTCH1	Q13635	p.Ser1132Pro	rs878853856	missense variant	Basal cell nevus syndrome (BCNS)	NC_000009.12:g.95453533A>G	UniProt,dbSNP
PTCH1	Q13635	p.Ser1132Pro	VAR_010980	missense variant	Basal cell nevus syndrome (BCNS)	NC_000009.12:g.95453533A>G	UniProt
PTCH1	Q13635	p.Ser1132Tyr	VAR_010981	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Thr1133Ala	rs1131690996	missense variant	-	NC_000009.12:g.95453530T>C	-
PTCH1	Q13635	p.Thr1133Ala	RCV000492102	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453530T>C	ClinVar
PTCH1	Q13635	p.Leu1135Pro	rs1131690989	missense variant	-	NC_000009.12:g.95453523A>G	-
PTCH1	Q13635	p.Leu1135Pro	RCV000492191	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453523A>G	ClinVar
PTCH1	Q13635	p.Ala1141Gly	rs376844749	missense variant	-	NC_000009.12:g.95453505G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1141Val	RCV000570061	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453505G>A	ClinVar
PTCH1	Q13635	p.Ala1141Val	RCV000148762	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453505G>A	ClinVar
PTCH1	Q13635	p.Ala1141Val	rs376844749	missense variant	-	NC_000009.12:g.95453505G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1142Arg	rs1339085767	missense variant	-	NC_000009.12:g.95453503C>T	gnomAD
PTCH1	Q13635	p.Gly1142Ter	RCV000525810	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95453499_95453500del	ClinVar
PTCH1	Q13635	p.Asp1146Asn	RCV000459818	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453491C>T	ClinVar
PTCH1	Q13635	p.Asp1146Asn	rs749542089	missense variant	-	NC_000009.12:g.95453491C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp1146Gly	rs1398400648	missense variant	-	NC_000009.12:g.95453490T>C	gnomAD
PTCH1	Q13635	p.Phe1147Ser	rs1131690990	missense variant	-	NC_000009.12:g.95453487A>G	-
PTCH1	Q13635	p.Phe1147Ser	RCV000492461	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453487A>G	ClinVar
PTCH1	Q13635	p.Ile1148Met	rs1439411173	missense variant	-	NC_000009.12:g.95453483A>C	TOPMed
PTCH1	Q13635	p.Ile1148Val	RCV000414011	missense variant	-	NC_000009.12:g.95453485T>C	ClinVar
PTCH1	Q13635	p.Ile1148Val	RCV000575762	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453485T>C	ClinVar
PTCH1	Q13635	p.Ile1148Val	RCV000206748	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453485T>C	ClinVar
PTCH1	Q13635	p.Ile1148Val	rs369265532	missense variant	-	NC_000009.12:g.95453485T>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1149Ile	rs756549066	missense variant	-	NC_000009.12:g.95453482C>T	ExAC,gnomAD
PTCH1	Q13635	p.Arg1150Gly	rs753067741	missense variant	-	NC_000009.12:g.95453479T>C	ExAC,gnomAD
PTCH1	Q13635	p.Phe1152Leu	COSM1111428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95449934G>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Phe1153Ter	RCV000492119	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449933del	ClinVar
PTCH1	Q13635	p.Ala1154Thr	RCV000473018	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449930C>T	ClinVar
PTCH1	Q13635	p.Ala1154Pro	RCV000232714	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449930C>G	ClinVar
PTCH1	Q13635	p.Ala1154Pro	rs878853857	missense variant	-	NC_000009.12:g.95449930C>G	gnomAD
PTCH1	Q13635	p.Ala1154Thr	rs878853857	missense variant	-	NC_000009.12:g.95449930C>T	gnomAD
PTCH1	Q13635	p.Ala1154Ter	RCV000458278	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95449930del	ClinVar
PTCH1	Q13635	p.Ile1158Phe	rs368636457	missense variant	-	NC_000009.12:g.95449918T>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ile1158Leu	rs368636457	missense variant	-	NC_000009.12:g.95449918T>G	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr1160Ser	rs147633236	missense variant	-	NC_000009.12:g.95449911G>C	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Ile1161Val	rs202102540	missense variant	-	NC_000009.12:g.95449909T>C	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Gly1163Ter	RCV000699171	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95449903del	ClinVar
PTCH1	Q13635	p.Gly1163Ser	RCV000123025	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449903C>T	ClinVar
PTCH1	Q13635	p.Gly1163Ser	RCV000573988	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449903C>T	ClinVar
PTCH1	Q13635	p.Gly1163Val	RCV000206594	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449902C>A	ClinVar
PTCH1	Q13635	p.Gly1163Val	rs864622120	missense variant	-	NC_000009.12:g.95449902C>A	-
PTCH1	Q13635	p.Gly1163Ser	rs113663584	missense variant	-	NC_000009.12:g.95449903C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1163Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95449902C>T	NCI-TCGA
PTCH1	Q13635	p.Gly1163Ser	RCV000034572	missense variant	-	NC_000009.12:g.95449903C>T	ClinVar
PTCH1	Q13635	p.Val1164Ile	rs371346118	missense variant	-	NC_000009.12:g.95449900C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asn1166Ser	rs1271099813	missense variant	-	NC_000009.12:g.95449893T>C	gnomAD
PTCH1	Q13635	p.Gly1167Arg	RCV000492431	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449891C>T	ClinVar
PTCH1	Q13635	p.Gly1167Arg	rs1131690985	missense variant	-	NC_000009.12:g.95449891C>T	-
PTCH1	Q13635	p.Leu1168Gln	rs527747879	missense variant	-	NC_000009.12:g.95449887A>T	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Val1173Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95449873C>T	NCI-TCGA
PTCH1	Q13635	p.Ser1176Cys	RCV000206519	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449863G>C	ClinVar
PTCH1	Q13635	p.Ser1176Cys	rs864622160	missense variant	-	NC_000009.12:g.95449863G>C	-
PTCH1	Q13635	p.Ser1176TyrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95449863_95449864insT	NCI-TCGA
PTCH1	Q13635	p.Phe1177Val	RCV000628362	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449861A>C	ClinVar
PTCH1	Q13635	p.Phe1177Val	rs772200521	missense variant	-	NC_000009.12:g.95449861A>C	ExAC,gnomAD
PTCH1	Q13635	p.Phe1177Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95449859G>T	NCI-TCGA
PTCH1	Q13635	p.Gly1179Glu	rs1278477767	missense variant	-	NC_000009.12:g.95449854C>T	gnomAD
PTCH1	Q13635	p.Pro1180Ala	rs1314555601	missense variant	-	NC_000009.12:g.95449852G>C	TOPMed
PTCH1	Q13635	p.Pro1180Gln	COSM5140317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95449851G>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Tyr1181His	rs367784268	missense variant	-	NC_000009.12:g.95449849A>G	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Tyr1181Ter	RCV000539775	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95449847_95449850delinsGGA	ClinVar
PTCH1	Q13635	p.Tyr1181His	RCV000226480	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449849A>G	ClinVar
PTCH1	Q13635	p.Pro1182Ala	rs1259037941	missense variant	-	NC_000009.12:g.95449846G>C	TOPMed
PTCH1	Q13635	p.Pro1182Ala	RCV000628332	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449846G>C	ClinVar
PTCH1	Q13635	p.Pro1182His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95449845G>T	NCI-TCGA
PTCH1	Q13635	p.Asn1188Asp	rs1319757275	missense variant	-	NC_000009.12:g.95449311T>C	TOPMed
PTCH1	Q13635	p.Gly1189Asp	rs1182133257	missense variant	-	NC_000009.12:g.95449307C>T	gnomAD
PTCH1	Q13635	p.Gly1189Cys	rs767535853	missense variant	-	NC_000009.12:g.95449308C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1189Ser	rs767535853	missense variant	-	NC_000009.12:g.95449308C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asn1191Lys	rs773389781	missense variant	-	NC_000009.12:g.95449300G>T	ExAC,gnomAD
PTCH1	Q13635	p.Arg1192His	rs762040036	missense variant	-	NC_000009.12:g.95449298C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1192His	RCV000764842	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449298C>T	ClinVar
PTCH1	Q13635	p.Arg1192His	RCV000569176	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449298C>T	ClinVar
PTCH1	Q13635	p.Arg1192Leu	RCV000204194	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449298C>A	ClinVar
PTCH1	Q13635	p.Arg1192His	RCV000819357	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449298C>T	ClinVar
PTCH1	Q13635	p.Arg1192Leu	rs762040036	missense variant	-	NC_000009.12:g.95449298C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1192Cys	rs571420165	missense variant	-	NC_000009.12:g.95449299G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr1195Ser	rs2236405	missense variant	-	NC_000009.12:g.95449290T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr1195Ser	RCV000121893	missense variant	-	NC_000009.12:g.95449290T>A	ClinVar
PTCH1	Q13635	p.Thr1195Ser	RCV000492383	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449290T>A	ClinVar
PTCH1	Q13635	p.Pro1196Leu	rs1217566464	missense variant	-	NC_000009.12:g.95449286G>A	gnomAD
PTCH1	Q13635	p.Pro1198Ser	rs1280830531	missense variant	-	NC_000009.12:g.95449281G>A	TOPMed
PTCH1	Q13635	p.Pro1198Ser	RCV000628409	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449281G>A	ClinVar
PTCH1	Q13635	p.Pro1198Arg	RCV000688269	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449280G>C	ClinVar
PTCH1	Q13635	p.Pro1200Leu	rs1314113003	missense variant	-	NC_000009.12:g.95449274G>A	gnomAD
PTCH1	Q13635	p.Pro1202Thr	rs1384935549	missense variant	-	NC_000009.12:g.95449269G>T	TOPMed,gnomAD
PTCH1	Q13635	p.Pro1202His	rs374097441	missense variant	-	NC_000009.12:g.95449268G>T	ESP,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1202Arg	RCV000472402	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449268G>C	ClinVar
PTCH1	Q13635	p.Pro1202Arg	rs374097441	missense variant	-	NC_000009.12:g.95449268G>C	ESP,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1203AlaPheSerTerUnkUnk	COSM198969	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95449267G>-	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ser1203Arg	RCV000691991	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449266T>G	ClinVar
PTCH1	Q13635	p.Ser1203GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95449266_95449267insG	NCI-TCGA
PTCH1	Q13635	p.Val1204Met	rs370675945	missense variant	-	NC_000009.12:g.95449263C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1204Met	RCV000469976	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449263C>T	ClinVar
PTCH1	Q13635	p.Val1205Ala	rs775882469	missense variant	-	NC_000009.12:g.95449259A>G	ExAC,gnomAD
PTCH1	Q13635	p.Arg1206Cys	rs772537644	missense variant	-	NC_000009.12:g.95449257G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1206Cys	RCV000477304	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449257G>A	ClinVar
PTCH1	Q13635	p.Arg1206His	RCV000570402	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449256C>T	ClinVar
PTCH1	Q13635	p.Arg1206His	RCV000123028	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449256C>T	ClinVar
PTCH1	Q13635	p.Arg1206Cys	RCV000567309	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449257G>A	ClinVar
PTCH1	Q13635	p.Arg1206His	rs560967532	missense variant	-	NC_000009.12:g.95449256C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1208Ser	rs945517672	missense variant	-	NC_000009.12:g.95449251C>A	gnomAD
PTCH1	Q13635	p.Ala1208Thr	rs945517672	missense variant	-	NC_000009.12:g.95449251C>T	gnomAD
PTCH1	Q13635	p.Ala1208Val	rs914090288	missense variant	-	NC_000009.12:g.95449250G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Ala1208Ser	RCV000540835	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449251C>A	ClinVar
PTCH1	Q13635	p.Ala1208Thr	RCV000685775	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449251C>T	ClinVar
PTCH1	Q13635	p.Met1209Leu	rs1259134617	missense variant	-	NC_000009.12:g.95449248T>A	gnomAD
PTCH1	Q13635	p.Met1209Val	rs1259134617	missense variant	-	NC_000009.12:g.95449248T>C	gnomAD
PTCH1	Q13635	p.Pro1210Leu	rs781062564	missense variant	-	NC_000009.12:g.95449244G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1210Leu	RCV000563841	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449244G>A	ClinVar
PTCH1	Q13635	p.Pro1210Leu	RCV000199692	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449244G>A	ClinVar
PTCH1	Q13635	p.Pro1211Ser	RCV000203911	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449242G>A	ClinVar
PTCH1	Q13635	p.Pro1211Ser	rs139495263	missense variant	-	NC_000009.12:g.95449242G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1211Ser	RCV000562097	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449242G>A	ClinVar
PTCH1	Q13635	p.Gly1212Ser	RCV000204570	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449239C>T	ClinVar
PTCH1	Q13635	p.Gly1212Ser	rs559827048	missense variant	-	NC_000009.12:g.95449239C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1212Ser	RCV000564991	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449239C>T	ClinVar
PTCH1	Q13635	p.His1213Leu	rs765296311	missense variant	-	NC_000009.12:g.95449235T>A	ExAC,gnomAD
PTCH1	Q13635	p.Thr1214Ala	RCV000686275	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449233T>C	ClinVar
PTCH1	Q13635	p.Thr1214Met	rs200029534	missense variant	-	NC_000009.12:g.95449232G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr1214Met	RCV000226932	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449232G>A	ClinVar
PTCH1	Q13635	p.Thr1214Met	RCV000574072	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449232G>A	ClinVar
PTCH1	Q13635	p.His1215Asn	rs1554689404	missense variant	-	NC_000009.12:g.95449230G>T	-
PTCH1	Q13635	p.His1215Asn	RCV000628356	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449230G>T	ClinVar
PTCH1	Q13635	p.Ser1216Arg	rs377608291	missense variant	-	NC_000009.12:g.95449225G>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1217Glu	rs759967074	missense variant	-	NC_000009.12:g.95449223C>T	ExAC,gnomAD
PTCH1	Q13635	p.Gly1217Arg	rs768986314	missense variant	-	NC_000009.12:g.95449224C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1218Cys	rs1167693193	missense variant	-	NC_000009.12:g.95449220G>C	gnomAD
PTCH1	Q13635	p.Asp1219His	rs774833489	missense variant	-	NC_000009.12:g.95449218C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1220Phe	rs1375226181	missense variant	-	NC_000009.12:g.95449214G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Ser1220Cys	rs1375226181	missense variant	-	NC_000009.12:g.95449214G>C	TOPMed,gnomAD
PTCH1	Q13635	p.Asp1222Asn	rs747181820	missense variant	-	NC_000009.12:g.95449209C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Ser1223Leu	rs769287098	missense variant	-	NC_000009.12:g.95449205G>A	ExAC,gnomAD
PTCH1	Q13635	p.Ser1226Gly	rs890755179	missense variant	-	NC_000009.12:g.95449197T>C	TOPMed,gnomAD
PTCH1	Q13635	p.Thr1229Met	RCV000554810	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449187G>A	ClinVar
PTCH1	Q13635	p.Thr1229Met	rs781080456	missense variant	-	NC_000009.12:g.95449187G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Thr1230Lys	rs1462253594	missense variant	-	NC_000009.12:g.95449184G>T	TOPMed
PTCH1	Q13635	p.Val1231Ala	rs182045135	missense variant	-	NC_000009.12:g.95449181A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1231Ala	RCV000123030	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449181A>G	ClinVar
PTCH1	Q13635	p.Glu1236Lys	rs779844193	missense variant	-	NC_000009.12:g.95449167C>T	ExAC,gnomAD
PTCH1	Q13635	p.Arg1239Gln	rs758728491	missense variant	-	NC_000009.12:g.95449157C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1239Trp	rs758411912	missense variant	-	NC_000009.12:g.95449158G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1239Gln	RCV000562820	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449157C>T	ClinVar
PTCH1	Q13635	p.Arg1239Gln	RCV000196156	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449157C>T	ClinVar
PTCH1	Q13635	p.Arg1239Pro	rs758728491	missense variant	-	NC_000009.12:g.95449157C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu1242Lys	rs779417284	missense variant	-	NC_000009.12:g.95449149C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ala1243Val	rs1173544841	missense variant	-	NC_000009.12:g.95449145G>A	gnomAD
PTCH1	Q13635	p.Gln1245Arg	rs767792734	missense variant	-	NC_000009.12:g.95449139T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gln1245Arg	RCV000764841	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95449139T>C	ClinVar
PTCH1	Q13635	p.Gln1245Arg	RCV000472214	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449139T>C	ClinVar
PTCH1	Q13635	p.Gly1246Asp	rs374011978	missense variant	-	NC_000009.12:g.95449136C>T	ESP,ExAC,TOPMed
PTCH1	Q13635	p.Ala1247Thr	rs369966295	missense variant	-	NC_000009.12:g.95449134C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1247Thr	RCV000203685	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449134C>T	ClinVar
PTCH1	Q13635	p.Ala1247Val	COSM5078366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95449133G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Gly1248Glu	rs375857496	missense variant	-	NC_000009.12:g.95449130C>T	TOPMed
PTCH1	Q13635	p.Gly1248Glu	RCV000460375	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449130C>T	ClinVar
PTCH1	Q13635	p.Gly1248Ala	RCV000473413	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449130C>G	ClinVar
PTCH1	Q13635	p.Gly1248Ala	rs375857496	missense variant	-	NC_000009.12:g.95449130C>G	TOPMed
PTCH1	Q13635	p.Gly1249Arg	rs769446796	missense variant	-	NC_000009.12:g.95449128C>G	ExAC,gnomAD
PTCH1	Q13635	p.Pro1250Ser	RCV000464445	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449125G>A	ClinVar
PTCH1	Q13635	p.Pro1250Ser	rs1060502265	missense variant	-	NC_000009.12:g.95449125G>A	gnomAD
PTCH1	Q13635	p.Ala1251Asp	RCV000206545	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449121G>T	ClinVar
PTCH1	Q13635	p.Ala1251Asp	rs747739936	missense variant	-	NC_000009.12:g.95449121G>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.His1252Asp	RCV000816911	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449119G>C	ClinVar
PTCH1	Q13635	p.His1252Asp	RCV000563856	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449119G>C	ClinVar
PTCH1	Q13635	p.His1252Tyr	rs780990429	missense variant	-	NC_000009.12:g.95449119G>A	ExAC,gnomAD
PTCH1	Q13635	p.His1252Asp	rs780990429	missense variant	-	NC_000009.12:g.95449119G>C	ExAC,gnomAD
PTCH1	Q13635	p.Gln1253Pro	rs146390067	missense variant	-	NC_000009.12:g.95449115T>G	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gln1253Arg	rs146390067	missense variant	-	NC_000009.12:g.95449115T>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1254Glu	rs779941873	missense variant	-	NC_000009.12:g.95449112A>T	ExAC,gnomAD
PTCH1	Q13635	p.Ile1255Thr	rs1237105700	missense variant	-	NC_000009.12:g.95449109A>G	gnomAD
PTCH1	Q13635	p.Val1256Met	RCV000566181	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449107C>T	ClinVar
PTCH1	Q13635	p.Val1256Met	rs150850039	missense variant	-	NC_000009.12:g.95449107C>T	1000Genomes,ESP,TOPMed,gnomAD
PTCH1	Q13635	p.Val1256Leu	rs150850039	missense variant	-	NC_000009.12:g.95449107C>A	1000Genomes,ESP,TOPMed,gnomAD
PTCH1	Q13635	p.Val1256Met	RCV000121895	missense variant	-	NC_000009.12:g.95449107C>T	ClinVar
PTCH1	Q13635	p.Val1256Met	RCV000167930	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449107C>T	ClinVar
PTCH1	Q13635	p.Glu1257Lys	rs750397931	missense variant	-	NC_000009.12:g.95449104C>T	ExAC,gnomAD
PTCH1	Q13635	p.Ala1258Thr	rs148350525	missense variant	-	NC_000009.12:g.95449101C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu1260Ter	RCV000492360	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449095C>A	ClinVar
PTCH1	Q13635	p.Glu1260Ter	rs1131690988	stop gained	-	NC_000009.12:g.95449095C>A	-
PTCH1	Q13635	p.Pro1262Ser	RCV000560684	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449089G>A	ClinVar
PTCH1	Q13635	p.Pro1262Ser	rs970679518	missense variant	-	NC_000009.12:g.95449089G>A	-
PTCH1	Q13635	p.Val1263Ile	RCV000628404	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449086C>T	ClinVar
PTCH1	Q13635	p.Val1263Ile	rs752831580	missense variant	-	NC_000009.12:g.95449086C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Phe1264Leu	rs144312968	missense variant	-	NC_000009.12:g.95449081G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1265Thr	rs759791227	missense variant	-	NC_000009.12:g.95449080C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1265Thr	RCV000571476	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449080C>T	ClinVar
PTCH1	Q13635	p.Ala1265Thr	RCV000168276	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449080C>T	ClinVar
PTCH1	Q13635	p.Ala1265Asp	rs915635257	missense variant	-	NC_000009.12:g.95449079G>T	TOPMed
PTCH1	Q13635	p.His1266Tyr	rs751826546	missense variant	-	NC_000009.12:g.95449077G>A	ExAC,gnomAD
PTCH1	Q13635	p.Thr1268Ser	rs1554689262	missense variant	-	NC_000009.12:g.95449070G>C	-
PTCH1	Q13635	p.Thr1268Ser	RCV000536869	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449070G>C	ClinVar
PTCH1	Q13635	p.Val1269Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95447450A>G	NCI-TCGA
PTCH1	Q13635	p.Val1270Ala	rs1342034180	missense variant	-	NC_000009.12:g.95447447A>G	gnomAD
PTCH1	Q13635	p.Val1270Ile	rs938997251	missense variant	-	NC_000009.12:g.95447448C>T	TOPMed,gnomAD
PTCH1	Q13635	p.Val1270Asp	rs1342034180	missense variant	-	NC_000009.12:g.95447447A>T	gnomAD
PTCH1	Q13635	p.His1271Tyr	rs1554688752	missense variant	-	NC_000009.12:g.95447445G>A	-
PTCH1	Q13635	p.His1271Tyr	RCV000628348	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447445G>A	ClinVar
PTCH1	Q13635	p.Pro1272Ser	rs1298467711	missense variant	-	NC_000009.12:g.95447442G>A	gnomAD
PTCH1	Q13635	p.Pro1272Arg	rs774167762	missense variant	-	NC_000009.12:g.95447441G>C	ExAC,gnomAD
PTCH1	Q13635	p.Glu1273Lys	rs749244396	missense variant	-	NC_000009.12:g.95447439C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu1273Ala	rs781188583	missense variant	-	NC_000009.12:g.95447438T>G	ExAC,gnomAD
PTCH1	Q13635	p.Glu1273Lys	RCV000535950	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447439C>T	ClinVar
PTCH1	Q13635	p.His1276Asp	rs786204190	missense variant	-	NC_000009.12:g.95447430G>C	-
PTCH1	Q13635	p.His1276Asp	RCV000168259	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447430G>C	ClinVar
PTCH1	Q13635	p.His1276Arg	rs1445693994	missense variant	-	NC_000009.12:g.95447429T>C	gnomAD
PTCH1	Q13635	p.His1277Arg	rs755092661	missense variant	-	NC_000009.12:g.95447426T>C	ExAC,gnomAD
PTCH1	Q13635	p.His1277Arg	RCV000628410	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447426T>C	ClinVar
PTCH1	Q13635	p.Pro1279Leu	rs747128318	missense variant	-	NC_000009.12:g.95447420G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1279Ala	rs1166276004	missense variant	-	NC_000009.12:g.95447421G>C	gnomAD
PTCH1	Q13635	p.Pro1279Ter	RCV000678481	frameshift	Basal cell carcinoma	NC_000009.12:g.95447420_95447421del	ClinVar
PTCH1	Q13635	p.Pro1279Leu	RCV000465057	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447420G>A	ClinVar
PTCH1	Q13635	p.Pro1279Leu	RCV000572367	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447420G>A	ClinVar
PTCH1	Q13635	p.Ser1280Ter	rs201595274	stop gained	-	NC_000009.12:g.95447417G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1280Leu	RCV000590100	missense variant	-	NC_000009.12:g.95447417G>A	ClinVar
PTCH1	Q13635	p.Ser1280Trp	rs201595274	missense variant	-	NC_000009.12:g.95447417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1280Leu	rs201595274	missense variant	-	NC_000009.12:g.95447417G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1280Leu	RCV000469382	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447417G>A	ClinVar
PTCH1	Q13635	p.Ser1280Leu	RCV000492217	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447417G>A	ClinVar
PTCH1	Q13635	p.Asn1281Ser	rs375088607	missense variant	-	NC_000009.12:g.95447414T>C	ESP,TOPMed
PTCH1	Q13635	p.Asn1281Ile	rs375088607	missense variant	-	NC_000009.12:g.95447414T>A	ESP,TOPMed
PTCH1	Q13635	p.Pro1282Arg	rs2227968	missense variant	-	NC_000009.12:g.95447411G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1282Leu	rs2227968	missense variant	-	NC_000009.12:g.95447411G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1282Leu	RCV000309514	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447411G>A	ClinVar
PTCH1	Q13635	p.Gln1285Lys	rs1216794003	missense variant	-	NC_000009.12:g.95447403G>T	gnomAD
PTCH1	Q13635	p.Gln1285His	COSM1315042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447401C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Pro1286His	rs1278213544	missense variant	-	NC_000009.12:g.95447399G>T	gnomAD
PTCH1	Q13635	p.Ser1292Phe	rs760216958	missense variant	-	NC_000009.12:g.95447381G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro1294Leu	rs767166469	missense variant	-	NC_000009.12:g.95447375G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro1295Ser	rs1060502275	missense variant	-	NC_000009.12:g.95447373G>A	-
PTCH1	Q13635	p.Pro1295Ser	RCV000458528	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447373G>A	ClinVar
PTCH1	Q13635	p.Gly1296Arg	rs372828014	missense variant	-	NC_000009.12:g.95447370C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1297Gln	RCV000034574	missense variant	-	NC_000009.12:g.95447366C>T	ClinVar
PTCH1	Q13635	p.Arg1297Gln	rs386833412	missense variant	-	NC_000009.12:g.95447366C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1297Trp	rs372027952	missense variant	-	NC_000009.12:g.95447367G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1297Trp	RCV000119190	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447367G>A	ClinVar
PTCH1	Q13635	p.Gly1299Asp	rs773133083	missense variant	-	NC_000009.12:g.95447360C>T	ExAC,gnomAD
PTCH1	Q13635	p.Gln1300Leu	rs769680080	missense variant	-	NC_000009.12:g.95447357T>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1302Ser	rs747093389	missense variant	-	NC_000009.12:g.95447352G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro1302Leu	rs780042369	missense variant	-	NC_000009.12:g.95447351G>A	ExAC,gnomAD
PTCH1	Q13635	p.Arg1303Leu	rs779365332	missense variant	-	NC_000009.12:g.95447348C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1303His	RCV000612265	missense variant	-	NC_000009.12:g.95447348C>T	ClinVar
PTCH1	Q13635	p.Arg1303Leu	RCV000628381	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447348C>A	ClinVar
PTCH1	Q13635	p.Arg1303Cys	RCV000405518	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447349G>A	ClinVar
PTCH1	Q13635	p.Arg1303His	RCV000234113	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447348C>T	ClinVar
PTCH1	Q13635	p.Arg1303His	rs779365332	missense variant	-	NC_000009.12:g.95447348C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1303Cys	rs56102979	missense variant	-	NC_000009.12:g.95447349G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1303Ser	rs56102979	missense variant	-	NC_000009.12:g.95447349G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1303Leu	RCV000764840	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95447348C>A	ClinVar
PTCH1	Q13635	p.Arg1304Ser	rs757702954	missense variant	-	NC_000009.12:g.95447344C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1304Ser	RCV000524899	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447344C>A	ClinVar
PTCH1	Q13635	p.Asp1305Tyr	rs368528885	missense variant	-	NC_000009.12:g.95447343C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp1305Glu	RCV000168289	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447341G>T	ClinVar
PTCH1	Q13635	p.Asp1305Glu	rs786204201	missense variant	-	NC_000009.12:g.95447341G>T	TOPMed,gnomAD
PTCH1	Q13635	p.Asp1305Asn	rs368528885	missense variant	-	NC_000009.12:g.95447343C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp1305Tyr	RCV000229142	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447343C>A	ClinVar
PTCH1	Q13635	p.Asp1305Asn	RCV000200607	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447343C>T	ClinVar
PTCH1	Q13635	p.Pro1306His	rs864622483	missense variant	-	NC_000009.12:g.95447339G>T	TOPMed
PTCH1	Q13635	p.Pro1306His	RCV000206345	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447339G>T	ClinVar
PTCH1	Q13635	p.Pro1306Ser	rs1169961504	missense variant	-	NC_000009.12:g.95447340G>A	TOPMed
PTCH1	Q13635	p.Pro1307Ala	rs574880967	missense variant	-	NC_000009.12:g.95447337G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1307Ser	RCV000119211	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447337G>A	ClinVar
PTCH1	Q13635	p.Pro1307Ser	RCV000567632	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447337G>A	ClinVar
PTCH1	Q13635	p.Pro1307Arg	rs181585555	missense variant	-	NC_000009.12:g.95447336G>C	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Pro1307Ser	rs574880967	missense variant	-	NC_000009.12:g.95447337G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1307His	rs181585555	missense variant	-	NC_000009.12:g.95447336G>T	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Pro1307Leu	rs181585555	missense variant	-	NC_000009.12:g.95447336G>A	1000Genomes,ExAC,gnomAD
PTCH1	Q13635	p.Pro1307Leu	RCV000628389	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447336G>A	ClinVar
PTCH1	Q13635	p.Pro1307Ser	RCV000764839	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447337G>A	ClinVar
PTCH1	Q13635	p.Arg1308Ser	rs762725821	missense variant	-	NC_000009.12:g.95447332T>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1308GlnPheSerTerUnkUnk	rs761353734	frameshift	-	NC_000009.12:g.95447334_95447335insG	NCI-TCGA,NCI-TCGA Cosmic
PTCH1	Q13635	p.Arg1308GluPheSerTerUnkUnk	COSM1463798	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95447335G>-	NCI-TCGA Cosmic
PTCH1	Q13635	p.Gly1310Val	rs773043616	missense variant	-	NC_000009.12:g.95447327C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1310Asp	rs773043616	missense variant	-	NC_000009.12:g.95447327C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Leu1311Ser	RCV000434505	missense variant	-	NC_000009.12:g.95447324A>G	ClinVar
PTCH1	Q13635	p.Leu1311Ser	rs1057524645	missense variant	-	NC_000009.12:g.95447324A>G	TOPMed
PTCH1	Q13635	p.Leu1311Phe	rs761688859	missense variant	-	NC_000009.12:g.95447323C>A	ExAC,gnomAD
PTCH1	Q13635	p.Trp1312Cys	rs1360926879	missense variant	-	NC_000009.12:g.95447320C>A	gnomAD
PTCH1	Q13635	p.Pro1313Ser	rs369772095	missense variant	-	NC_000009.12:g.95447319G>A	ESP,ExAC
PTCH1	Q13635	p.Pro1314Ser	rs574856671	missense variant	-	NC_000009.12:g.95447316G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1314Ser	RCV000230787	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447316G>A	ClinVar
PTCH1	Q13635	p.Pro1314Thr	rs574856671	missense variant	-	NC_000009.12:g.95447316G>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1314Leu	rs1400282737	missense variant	-	NC_000009.12:g.95447315G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Pro1315Ser	rs746022197	missense variant	-	NC_000009.12:g.95447313G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1315His	rs357564	missense variant	-	NC_000009.12:g.95447312G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1315Leu	RCV000034575	missense variant	-	NC_000009.12:g.95447312G>A	ClinVar
PTCH1	Q13635	p.Pro1315Arg	RCV000565121	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447312G>C	ClinVar
PTCH1	Q13635	p.Pro1315Ala	rs746022197	missense variant	-	NC_000009.12:g.95447313G>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1315Arg	rs357564	missense variant	-	NC_000009.12:g.95447312G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1315Leu	rs357564	missense variant	-	NC_000009.12:g.95447312G>A	UniProt,dbSNP
PTCH1	Q13635	p.Pro1315Leu	VAR_010983	missense variant	-	NC_000009.12:g.95447312G>A	UniProt
PTCH1	Q13635	p.Pro1315Leu	rs357564	missense variant	-	NC_000009.12:g.95447312G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1315His	RCV000466958	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447312G>T	ClinVar
PTCH1	Q13635	p.Pro1315Leu	RCV000492103	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447312G>A	ClinVar
PTCH1	Q13635	p.Pro1315Leu	RCV000285014	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447312G>A	ClinVar
PTCH1	Q13635	p.Pro1315Leu	RCV000078463	missense variant	-	NC_000009.12:g.95447312G>A	ClinVar
PTCH1	Q13635	p.Pro1315Leu	RCV000378947	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447312G>A	ClinVar
PTCH1	Q13635	p.Tyr1316Cys	rs147067171	missense variant	-	NC_000009.12:g.95447309T>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Tyr1316Cys	RCV000588636	missense variant	-	NC_000009.12:g.95447309T>C	ClinVar
PTCH1	Q13635	p.Tyr1316ThrPheSerTerUnkUnk	COSM1463794	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95447311G>-	NCI-TCGA Cosmic
PTCH1	Q13635	p.Arg1317Gly	rs1482005246	missense variant	-	NC_000009.12:g.95447307T>C	gnomAD
PTCH1	Q13635	p.Pro1318Arg	rs536440590	missense variant	-	NC_000009.12:g.95447303G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1318Arg	RCV000469995	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447303G>C	ClinVar
PTCH1	Q13635	p.Pro1318Leu	RCV000201244	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447303G>A	ClinVar
PTCH1	Q13635	p.Pro1318Leu	rs536440590	missense variant	-	NC_000009.12:g.95447303G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1319Cys	RCV000279134	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447301G>A	ClinVar
PTCH1	Q13635	p.Arg1319His	RCV000526107	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447300C>T	ClinVar
PTCH1	Q13635	p.Arg1319His	RCV000567082	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447300C>T	ClinVar
PTCH1	Q13635	p.Arg1319His	rs572658914	missense variant	-	NC_000009.12:g.95447300C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1319Cys	rs375998275	missense variant	-	NC_000009.12:g.95447301G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1319Leu	rs572658914	missense variant	-	NC_000009.12:g.95447300C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1319Cys	RCV000228335	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447301G>A	ClinVar
PTCH1	Q13635	p.Arg1319Leu	RCV000628425	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447300C>A	ClinVar
PTCH1	Q13635	p.Arg1320Lys	COSM3780217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447297C>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ala1322Gly	rs1054532927	missense variant	-	NC_000009.12:g.95447291G>C	TOPMed
PTCH1	Q13635	p.Ala1322Val	rs1054532927	missense variant	-	NC_000009.12:g.95447291G>A	TOPMed
PTCH1	Q13635	p.Ser1326Phe	RCV000538812	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447279G>A	ClinVar
PTCH1	Q13635	p.Ser1326Phe	rs764964224	missense variant	-	NC_000009.12:g.95447279G>A	ExAC,gnomAD
PTCH1	Q13635	p.Thr1327Ile	rs1163256164	missense variant	-	NC_000009.12:g.95447276G>A	TOPMed
PTCH1	Q13635	p.Thr1327Ala	rs761753681	missense variant	-	NC_000009.12:g.95447277T>C	ExAC,gnomAD
PTCH1	Q13635	p.Glu1328Asp	rs1394160194	missense variant	-	NC_000009.12:g.95447272T>G	TOPMed
PTCH1	Q13635	p.Gly1329Trp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95447271C>A	NCI-TCGA
PTCH1	Q13635	p.His1330Arg	RCV000695081	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447267T>C	ClinVar
PTCH1	Q13635	p.Ser1331Phe	rs150373546	missense variant	-	NC_000009.12:g.95447264G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1331Cys	rs150373546	missense variant	-	NC_000009.12:g.95447264G>C	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1331Cys	RCV000707396	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447264G>C	ClinVar
PTCH1	Q13635	p.Ser1331Cys	RCV000570731	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447264G>C	ClinVar
PTCH1	Q13635	p.Ser1331Phe	RCV000168137	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447264G>A	ClinVar
PTCH1	Q13635	p.Pro1333Ser	rs1160872643	missense variant	-	NC_000009.12:g.95447259G>A	gnomAD
PTCH1	Q13635	p.Ser1334Asn	RCV000167997	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447255C>T	ClinVar
PTCH1	Q13635	p.Ser1334Asn	rs200620662	missense variant	-	NC_000009.12:g.95447255C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1334Gly	rs1420657376	missense variant	-	NC_000009.12:g.95447256T>C	gnomAD
PTCH1	Q13635	p.Ser1334Ile	rs200620662	missense variant	-	NC_000009.12:g.95447255C>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asn1335Ser	rs1231336202	missense variant	-	NC_000009.12:g.95447252T>C	TOPMed
PTCH1	Q13635	p.Arg1338His	RCV000527574	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447243C>T	ClinVar
PTCH1	Q13635	p.Arg1338Cys	rs374346190	missense variant	-	NC_000009.12:g.95447244G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1338His	rs771238114	missense variant	-	NC_000009.12:g.95447243C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1338Cys	RCV000555828	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447244G>A	ClinVar
PTCH1	Q13635	p.Trp1339Arg	rs1181929625	missense variant	-	NC_000009.12:g.95447241A>G	gnomAD
PTCH1	Q13635	p.Gly1340Cys	rs1485371101	missense variant	-	NC_000009.12:g.95447238C>A	gnomAD
PTCH1	Q13635	p.Gly1340Asp	rs1218728112	missense variant	-	NC_000009.12:g.95447237C>T	gnomAD
PTCH1	Q13635	p.Pro1341Leu	rs748609458	missense variant	-	NC_000009.12:g.95447234G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro1341Ser	rs770055624	missense variant	-	NC_000009.12:g.95447235G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro1341Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95447235G>C	NCI-TCGA
PTCH1	Q13635	p.Arg1342His	rs575146278	missense variant	-	NC_000009.12:g.95447231C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1342Cys	RCV000764838	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447232G>A	ClinVar
PTCH1	Q13635	p.Arg1342Cys	rs781539921	missense variant	-	NC_000009.12:g.95447232G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1342His	RCV000232371	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447231C>T	ClinVar
PTCH1	Q13635	p.Arg1342Cys	RCV000470683	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447232G>A	ClinVar
PTCH1	Q13635	p.Gly1343Glu	rs757997132	missense variant	-	NC_000009.12:g.95447228C>T	ExAC
PTCH1	Q13635	p.Gly1343Arg	rs200100952	missense variant	-	NC_000009.12:g.95447229C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1343Arg	RCV000481212	missense variant	-	NC_000009.12:g.95447229C>T	ClinVar
PTCH1	Q13635	p.Ala1344Thr	rs765017975	missense variant	-	NC_000009.12:g.95447226C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1344Val	RCV000471734	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447225G>A	ClinVar
PTCH1	Q13635	p.Ala1344Ser	RCV000468861	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447226C>A	ClinVar
PTCH1	Q13635	p.Ala1344Ser	rs765017975	missense variant	-	NC_000009.12:g.95447226C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1344Val	rs1060502289	missense variant	-	NC_000009.12:g.95447225G>A	-
PTCH1	Q13635	p.Arg1345Cys	RCV000386162	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447223G>A	ClinVar
PTCH1	Q13635	p.Arg1345Cys	RCV000263682	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447223G>A	ClinVar
PTCH1	Q13635	p.Arg1345His	RCV000198754	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447222C>T	ClinVar
PTCH1	Q13635	p.Arg1345Gly	rs556901417	missense variant	-	NC_000009.12:g.95447223G>C	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1345His	rs766315655	missense variant	-	NC_000009.12:g.95447222C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1345Cys	rs556901417	missense variant	-	NC_000009.12:g.95447223G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1346Phe	rs1554688418	missense variant	-	NC_000009.12:g.95447219G>A	-
PTCH1	Q13635	p.Ser1346Phe	RCV000552802	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447219G>A	ClinVar
PTCH1	Q13635	p.His1347Gln	RCV000628366	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447215G>T	ClinVar
PTCH1	Q13635	p.His1347Tyr	rs760724368	missense variant	-	NC_000009.12:g.95447217G>A	ExAC,gnomAD
PTCH1	Q13635	p.His1347Gln	rs774524114	missense variant	-	NC_000009.12:g.95447215G>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asn1348His	rs766576144	missense variant	-	NC_000009.12:g.95447214T>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asn1348Asp	RCV000477533	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447214T>C	ClinVar
PTCH1	Q13635	p.Asn1348Asp	rs766576144	missense variant	-	NC_000009.12:g.95447214T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asn1348Ser	rs371943557	missense variant	-	NC_000009.12:g.95447213T>C	ESP,ExAC,gnomAD
PTCH1	Q13635	p.Asn1348Lys	rs1412873206	missense variant	-	NC_000009.12:g.95447212G>T	TOPMed
PTCH1	Q13635	p.Asn1348Ser	RCV000205121	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447213T>C	ClinVar
PTCH1	Q13635	p.Asn1348Ser	RCV000764837	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447213T>C	ClinVar
PTCH1	Q13635	p.Pro1349Leu	rs773298544	missense variant	-	NC_000009.12:g.95447210G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro1349Leu	RCV000463140	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447210G>A	ClinVar
PTCH1	Q13635	p.Arg1350Trp	rs140417636	missense variant	-	NC_000009.12:g.95447208G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1350Gly	rs140417636	missense variant	-	NC_000009.12:g.95447208G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1350Gln	rs978722722	missense variant	-	NC_000009.12:g.95447207C>T	TOPMed
PTCH1	Q13635	p.Arg1350Trp	RCV000197821	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447208G>A	ClinVar
PTCH1	Q13635	p.Asn1351Asp	RCV000168033	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447205T>C	ClinVar
PTCH1	Q13635	p.Asn1351Asp	RCV000571329	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447205T>C	ClinVar
PTCH1	Q13635	p.Asn1351Asp	rs786204103	missense variant	-	NC_000009.12:g.95447205T>C	gnomAD
PTCH1	Q13635	p.Asn1351Lys	RCV000686744	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447203G>T	ClinVar
PTCH1	Q13635	p.Asn1351Asp	RCV000764835	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447205T>C	ClinVar
PTCH1	Q13635	p.Pro1352Arg	rs1022984391	missense variant	-	NC_000009.12:g.95447201G>C	TOPMed
PTCH1	Q13635	p.Pro1352Thr	COSM1111418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447202G>T	NCI-TCGA Cosmic
PTCH1	Q13635	p.Ala1353Val	rs777096311	missense variant	-	NC_000009.12:g.95447198G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1353Thr	rs1304567972	missense variant	-	NC_000009.12:g.95447199C>T	TOPMed
PTCH1	Q13635	p.Thr1355Ala	RCV000206264	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447193T>C	ClinVar
PTCH1	Q13635	p.Thr1355Ala	rs864622456	missense variant	-	NC_000009.12:g.95447193T>C	gnomAD
PTCH1	Q13635	p.Thr1355Ile	rs779482395	missense variant	-	NC_000009.12:g.95447192G>A	ExAC,gnomAD
PTCH1	Q13635	p.Met1357Thr	rs1484373312	missense variant	-	NC_000009.12:g.95447186A>G	TOPMed
PTCH1	Q13635	p.Met1357Leu	RCV000533630	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447187T>A	ClinVar
PTCH1	Q13635	p.Met1357Leu	rs757909121	missense variant	-	NC_000009.12:g.95447187T>A	ExAC,gnomAD
PTCH1	Q13635	p.Met1357Val	RCV000573733	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447187T>C	ClinVar
PTCH1	Q13635	p.Met1357Val	rs757909121	missense variant	-	NC_000009.12:g.95447187T>C	ExAC,gnomAD
PTCH1	Q13635	p.Gly1358Ser	rs959437650	missense variant	-	NC_000009.12:g.95447184C>T	TOPMed
PTCH1	Q13635	p.Gly1358Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95447183C>A	NCI-TCGA
PTCH1	Q13635	p.Gly1358Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95447183C>T	NCI-TCGA
PTCH1	Q13635	p.Ser1359Ile	rs745451899	missense variant	-	NC_000009.12:g.95447180C>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1359Asn	rs745451899	missense variant	-	NC_000009.12:g.95447180C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1361Leu	rs753535745	missense variant	-	NC_000009.12:g.95447175C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1361Met	rs753535745	missense variant	-	NC_000009.12:g.95447175C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1361Met	RCV000473480	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447175C>T	ClinVar
PTCH1	Q13635	p.Pro1362Leu	rs777731495	missense variant	-	NC_000009.12:g.95447171G>A	ExAC,gnomAD
PTCH1	Q13635	p.Gly1363Ser	rs767625820	missense variant	-	NC_000009.12:g.95447169C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1363Ser	RCV000551992	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447169C>T	ClinVar
PTCH1	Q13635	p.Gly1363Arg	rs767625820	missense variant	-	NC_000009.12:g.95447169C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Cys1365Tyr	rs1397510746	missense variant	-	NC_000009.12:g.95447162C>T	gnomAD
PTCH1	Q13635	p.Cys1365Tyr	RCV000690513	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447162C>T	ClinVar
PTCH1	Q13635	p.Thr1369Ser	rs762925808	missense variant	-	NC_000009.12:g.95447150G>C	ExAC,gnomAD
PTCH1	Q13635	p.Thr1372Met	RCV000231544	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447141G>A	ClinVar
PTCH1	Q13635	p.Thr1372Met	rs765348942	missense variant	-	NC_000009.12:g.95447141G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1373Thr	rs1267726258	missense variant	-	NC_000009.12:g.95447139C>T	gnomAD
PTCH1	Q13635	p.Ala1375Ser	rs769022340	missense variant	-	NC_000009.12:g.95447133C>A	ExAC,gnomAD
PTCH1	Q13635	p.Ala1375Ser	RCV000532573	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447133C>A	ClinVar
PTCH1	Q13635	p.Ala1375Thr	rs769022340	missense variant	-	NC_000009.12:g.95447133C>T	ExAC,gnomAD
PTCH1	Q13635	p.Val1377Met	rs745337014	missense variant	-	NC_000009.12:g.95447127C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1380Thr	rs111481152	missense variant	-	NC_000009.12:g.95447118C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ala1380Val	rs777641179	missense variant	-	NC_000009.12:g.95447117G>A	ExAC,gnomAD
PTCH1	Q13635	p.Val1381Met	RCV000780653	missense variant	-	NC_000009.12:g.95447115C>T	ClinVar
PTCH1	Q13635	p.Val1381Leu	rs187104739	missense variant	-	NC_000009.12:g.95447115C>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1381Met	rs187104739	missense variant	-	NC_000009.12:g.95447115C>T	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.His1382Tyr	rs377484697	missense variant	-	NC_000009.12:g.95447112G>A	ESP,TOPMed,gnomAD
PTCH1	Q13635	p.His1382Tyr	RCV000468539	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447112G>A	ClinVar
PTCH1	Q13635	p.Pro1383Leu	rs571030658	missense variant	-	NC_000009.12:g.95447108G>A	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1383Leu	RCV000696239	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447108G>A	ClinVar
PTCH1	Q13635	p.Pro1384Leu	rs146447673	missense variant	-	NC_000009.12:g.95447105G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1385Leu	rs754065147	missense variant	-	NC_000009.12:g.95447102G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro1385Ser	COSM3909145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447103G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Val1386Ile	rs915925601	missense variant	-	NC_000009.12:g.95447100C>T	gnomAD
PTCH1	Q13635	p.Pro1387Leu	rs552921967	missense variant	-	NC_000009.12:g.95447096G>A	1000Genomes
PTCH1	Q13635	p.Gly1388Arg	rs587778631	missense variant	-	NC_000009.12:g.95447094C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1388Arg	RCV000121900	missense variant	-	NC_000009.12:g.95447094C>T	ClinVar
PTCH1	Q13635	p.Pro1389Ser	rs1180812915	missense variant	-	NC_000009.12:g.95447091G>A	gnomAD
PTCH1	Q13635	p.Pro1389His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95447090G>T	NCI-TCGA
PTCH1	Q13635	p.Gly1390Arg	rs1239904766	missense variant	-	NC_000009.12:g.95447088C>G	gnomAD
PTCH1	Q13635	p.Arg1391Trp	RCV000034577	missense variant	-	NC_000009.12:g.95447085G>A	ClinVar
PTCH1	Q13635	p.Arg1391Trp	RCV000168115	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447085G>A	ClinVar
PTCH1	Q13635	p.Arg1391Trp	RCV000210573	missense variant	Inborn genetic diseases	NC_000009.12:g.95447085G>A	ClinVar
PTCH1	Q13635	p.Arg1391Gln	RCV000438185	missense variant	-	NC_000009.12:g.95447084C>T	ClinVar
PTCH1	Q13635	p.Arg1391Trp	rs45535032	missense variant	-	NC_000009.12:g.95447085G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1391Gln	rs773676486	missense variant	-	NC_000009.12:g.95447084C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1393Ser	rs1388774785	missense variant	-	NC_000009.12:g.95447079G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Pro1393Arg	rs1368334005	missense variant	-	NC_000009.12:g.95447078G>C	gnomAD
PTCH1	Q13635	p.Pro1393Arg	RCV000546505	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447078G>C	ClinVar
PTCH1	Q13635	p.Arg1394Ter	rs1297685477	stop gained	-	NC_000009.12:g.95447076G>A	TOPMed,gnomAD
PTCH1	Q13635	p.Arg1394Gln	RCV000692688	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447075C>T	ClinVar
PTCH1	Q13635	p.Arg1394Ter	RCV000702535	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95447076G>A	ClinVar
PTCH1	Q13635	p.Arg1394Gln	RCV000574713	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447075C>T	ClinVar
PTCH1	Q13635	p.Arg1394Gln	rs748812637	missense variant	-	NC_000009.12:g.95447075C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1395Arg	rs375626922	missense variant	-	NC_000009.12:g.95447073C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1395Trp	rs375626922	missense variant	-	NC_000009.12:g.95447073C>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1395Val	rs1212282721	missense variant	-	NC_000009.12:g.95447072C>A	TOPMed
PTCH1	Q13635	p.Gly1395Arg	RCV000233151	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447073C>T	ClinVar
PTCH1	Q13635	p.Gly1396Arg	RCV000466286	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447070C>T	ClinVar
PTCH1	Q13635	p.Gly1396Glu	rs747923595	missense variant	-	NC_000009.12:g.95447069C>T	ExAC,gnomAD
PTCH1	Q13635	p.Gly1396Arg	rs1060502276	missense variant	-	NC_000009.12:g.95447070C>T	-
PTCH1	Q13635	p.Gly1396AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95447069C>-	NCI-TCGA
PTCH1	Q13635	p.Cys1398Arg	rs1372936088	missense variant	-	NC_000009.12:g.95447064A>G	gnomAD
PTCH1	Q13635	p.Pro1399Ser	rs1275384199	missense variant	-	NC_000009.12:g.95447061G>A	TOPMed
PTCH1	Q13635	p.Gly1400Asp	rs786204094	missense variant	-	NC_000009.12:g.95447057C>T	gnomAD
PTCH1	Q13635	p.Gly1400Asp	RCV000168010	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447057C>T	ClinVar
PTCH1	Q13635	p.Pro1402Leu	COSM5939955	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447051G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Pro1402Ser	COSM3659789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447052G>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Thr1404Ala	RCV000458089	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447046T>C	ClinVar
PTCH1	Q13635	p.Thr1404Ala	rs201873008	missense variant	-	NC_000009.12:g.95447046T>C	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Asp1405Asn	rs530172841	missense variant	-	NC_000009.12:g.95447043C>T	1000Genomes,ExAC
PTCH1	Q13635	p.His1406Arg	rs1028469311	missense variant	-	NC_000009.12:g.95447039T>C	TOPMed
PTCH1	Q13635	p.His1406Gln	rs372558350	missense variant	-	NC_000009.12:g.95447038G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1407Ser	RCV000561478	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447037C>T	ClinVar
PTCH1	Q13635	p.Gly1407Ser	rs56161606	missense variant	-	NC_000009.12:g.95447037C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu1410Lys	rs1554688143	missense variant	-	NC_000009.12:g.95447028C>T	-
PTCH1	Q13635	p.Glu1410Lys	RCV000547998	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447028C>T	ClinVar
PTCH1	Q13635	p.Asp1411ThrGlu	RCV000528559	insertion	Gorlin syndrome (BCNS)	NC_000009.12:g.95447029_95447030insGTCTCA	ClinVar
PTCH1	Q13635	p.Asp1411Gly	rs774913538	missense variant	-	NC_000009.12:g.95447024T>C	ExAC,gnomAD
PTCH1	Q13635	p.Asp1411Asn	rs759892989	missense variant	-	NC_000009.12:g.95447025C>T	ExAC
PTCH1	Q13635	p.Pro1412Leu	rs766849993	missense variant	-	NC_000009.12:g.95447021G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1412Ala	rs1554688130	missense variant	-	NC_000009.12:g.95447022G>C	-
PTCH1	Q13635	p.Pro1412Ala	RCV000536739	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447022G>C	ClinVar
PTCH1	Q13635	p.His1413Tyr	rs772886108	missense variant	-	NC_000009.12:g.95447019G>A	ExAC,gnomAD
PTCH1	Q13635	p.Val1414Leu	rs149667902	missense variant	-	NC_000009.12:g.95447016C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1414Ala	rs1481818673	missense variant	-	NC_000009.12:g.95447015A>G	gnomAD
PTCH1	Q13635	p.Val1414Met	RCV000612566	missense variant	-	NC_000009.12:g.95447016C>T	ClinVar
PTCH1	Q13635	p.Val1414Met	rs149667902	missense variant	-	NC_000009.12:g.95447016C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1415Leu	rs1428087287	missense variant	-	NC_000009.12:g.95447012G>A	TOPMed
PTCH1	Q13635	p.Phe1416Leu	rs1554688102	missense variant	-	NC_000009.12:g.95447010A>G	-
PTCH1	Q13635	p.Phe1416Leu	RCV000628387	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447010A>G	ClinVar
PTCH1	Q13635	p.Phe1416Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95447008G>T	NCI-TCGA
PTCH1	Q13635	p.His1417Asn	rs776235476	missense variant	-	NC_000009.12:g.95447007G>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.His1417Gln	rs371960721	missense variant	-	NC_000009.12:g.95447005G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1418Ile	rs369882883	missense variant	-	NC_000009.12:g.95447004C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1418Ile	RCV000484134	missense variant	-	NC_000009.12:g.95447004C>T	ClinVar
PTCH1	Q13635	p.Val1418Ile	RCV000561736	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447004C>T	ClinVar
PTCH1	Q13635	p.Arg1419Trp	rs139942632	missense variant	-	NC_000009.12:g.95447001G>A	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1419Gln	rs372686352	missense variant	-	NC_000009.12:g.95447000C>T	ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1419Gln	RCV000549207	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447000C>T	ClinVar
PTCH1	Q13635	p.Cys1420Arg	RCV000206077	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446998A>G	ClinVar
PTCH1	Q13635	p.Cys1420Arg	rs864622068	missense variant	-	NC_000009.12:g.95446998A>G	-
PTCH1	Q13635	p.Cys1420Tyr	rs913816675	missense variant	-	NC_000009.12:g.95446997C>T	TOPMed
PTCH1	Q13635	p.Glu1421Lys	rs575473447	missense variant	-	NC_000009.12:g.95446995C>T	1000Genomes
PTCH1	Q13635	p.Arg1422Gly	rs1246323077	missense variant	-	NC_000009.12:g.95446992T>C	gnomAD
PTCH1	Q13635	p.Arg1422Gly	RCV000525472	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446992T>C	ClinVar
PTCH1	Q13635	p.Arg1423Met	rs1213795569	missense variant	-	NC_000009.12:g.95446988C>A	TOPMed
PTCH1	Q13635	p.Ser1425Leu	RCV000121898	missense variant	-	NC_000009.12:g.95446982G>A	ClinVar
PTCH1	Q13635	p.Ser1425Leu	rs587778630	missense variant	-	NC_000009.12:g.95446982G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1427Met	rs752919871	missense variant	-	NC_000009.12:g.95446977C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1427Ala	rs1060502283	missense variant	-	NC_000009.12:g.95446976A>G	-
PTCH1	Q13635	p.Val1427Leu	rs752919871	missense variant	-	NC_000009.12:g.95446977C>G	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1427Ala	RCV000456502	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446976A>G	ClinVar
PTCH1	Q13635	p.Glu1428Asp	rs1404752728	missense variant	-	NC_000009.12:g.95446972T>G	gnomAD
PTCH1	Q13635	p.Val1429SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.95446971C>-	NCI-TCGA
PTCH1	Q13635	p.Ile1430Val	rs1043260017	missense variant	-	NC_000009.12:g.95446968T>C	gnomAD
PTCH1	Q13635	p.Ile1430Met	rs751915096	missense variant	-	NC_000009.12:g.95446966A>C	ExAC,gnomAD
PTCH1	Q13635	p.Ile1430Thr	RCV000628413	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446967A>G	ClinVar
PTCH1	Q13635	p.Ile1430Thr	rs556722778	missense variant	-	NC_000009.12:g.95446967A>G	1000Genomes,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu1431Lys	rs766876016	missense variant	-	NC_000009.12:g.95446965C>T	ExAC,gnomAD
PTCH1	Q13635	p.Gln1433Arg	rs772802013	missense variant	-	NC_000009.12:g.95446958T>C	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gln1433Leu	RCV000555193	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446958T>A	ClinVar
PTCH1	Q13635	p.Gln1433Leu	rs772802013	missense variant	-	NC_000009.12:g.95446958T>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Val1435Met	RCV000761023	missense variant	Retinoblastoma (RB1)	NC_000009.12:g.95446953C>T	ClinVar
PTCH1	Q13635	p.Val1435Met	rs587778632	missense variant	-	NC_000009.12:g.95446953C>T	ExAC,gnomAD
PTCH1	Q13635	p.Glu1436Ter	COSM6116552	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95446950C>A	NCI-TCGA Cosmic
PTCH1	Q13635	p.Cys1437Arg	rs1309129743	missense variant	-	NC_000009.12:g.95446947A>G	gnomAD
PTCH1	Q13635	p.Glu1438Gly	rs150696398	missense variant	-	NC_000009.12:g.95446943T>C	ESP,TOPMed,gnomAD
PTCH1	Q13635	p.Glu1438Lys	rs768254901	missense variant	-	NC_000009.12:g.95446944C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Glu1438Gly	RCV000205005	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446943T>C	ClinVar
PTCH1	Q13635	p.Glu1438Asp	VAR_010984	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
PTCH1	Q13635	p.Arg1440Gly	RCV000693002	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446938T>C	ClinVar
PTCH1	Q13635	p.Arg1440Lys	rs1354112241	missense variant	-	NC_000009.12:g.95446937C>T	TOPMed
PTCH1	Q13635	p.Pro1441Ser	rs746800536	missense variant	-	NC_000009.12:g.95446935G>A	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Pro1441Leu	rs775192032	missense variant	-	NC_000009.12:g.95446934G>A	ExAC,gnomAD
PTCH1	Q13635	p.Pro1441Ser	RCV000198957	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446935G>A	ClinVar
PTCH1	Q13635	p.Arg1442Gln	RCV000034579	missense variant	-	NC_000009.12:g.95446931C>T	ClinVar
PTCH1	Q13635	p.Arg1442Leu	RCV000541673	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446931C>A	ClinVar
PTCH1	Q13635	p.Arg1442Leu	rs56023271	missense variant	-	NC_000009.12:g.95446931C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1442Gln	rs56023271	missense variant	-	NC_000009.12:g.95446931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Arg1442Trp	RCV000199648	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446932G>A	ClinVar
PTCH1	Q13635	p.Arg1442Trp	rs143464326	missense variant	-	NC_000009.12:g.95446932G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Gly1443Val	RCV000203681	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446928C>A	ClinVar
PTCH1	Q13635	p.Gly1443Val	rs864622100	missense variant	-	NC_000009.12:g.95446928C>A	gnomAD
PTCH1	Q13635	p.Ser1444Asn	rs1347860599	missense variant	-	NC_000009.12:g.95446925C>T	gnomAD
PTCH1	Q13635	p.Ser1445Asn	rs770268061	missense variant	-	NC_000009.12:g.95446922C>T	ExAC,TOPMed,gnomAD
PTCH1	Q13635	p.Ser1445Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95446921G>T	NCI-TCGA
PTCH1	Q13635	p.Ser1446Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.95446919G>T	NCI-TCGA
PTCH1	Q13635	p.Asn1447Ser	rs972576439	missense variant	-	NC_000009.12:g.95446916T>C	TOPMed
PTCH1	Q13635	p.Asn1447Ser	RCV000628353	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446916T>C	ClinVar
PKP1	Q13835	p.Asn2Ser	rs1249234066	missense variant	-	NC_000001.11:g.201283707A>G	gnomAD
PKP1	Q13835	p.Ser4Leu	rs1475958808	missense variant	-	NC_000001.11:g.201283713C>T	TOPMed,gnomAD
PKP1	Q13835	p.Ser4Trp	rs1475958808	missense variant	-	NC_000001.11:g.201283713C>G	TOPMed,gnomAD
PKP1	Q13835	p.Pro5Ser	rs1189119963	missense variant	-	NC_000001.11:g.201283715C>T	NCI-TCGA
PKP1	Q13835	p.Pro5Leu	rs1417514113	missense variant	-	NC_000001.11:g.201283716C>T	gnomAD
PKP1	Q13835	p.Pro5Leu	rs1417514113	missense variant	-	NC_000001.11:g.201283716C>T	NCI-TCGA
PKP1	Q13835	p.Pro5Ser	rs1189119963	missense variant	-	NC_000001.11:g.201283715C>T	gnomAD
PKP1	Q13835	p.Ala11Ser	rs986378706	missense variant	-	NC_000001.11:g.201283733G>T	TOPMed,gnomAD
PKP1	Q13835	p.Ala11Val	rs910380119	missense variant	-	NC_000001.11:g.201283734C>T	TOPMed,gnomAD
PKP1	Q13835	p.Glu13Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201283739G>A	NCI-TCGA
PKP1	Q13835	p.Cys14Arg	COSM4026907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201283742T>C	NCI-TCGA Cosmic
PKP1	Q13835	p.Phe15Val	rs765686962	missense variant	-	NC_000001.11:g.201283745T>G	ExAC,gnomAD
PKP1	Q13835	p.Asp17Asn	rs1339584228	missense variant	-	NC_000001.11:g.201283751G>A	gnomAD
PKP1	Q13835	p.Asp19Gly	rs1339972669	missense variant	-	NC_000001.11:g.201283758A>G	gnomAD
PKP1	Q13835	p.Asp19Asn	rs1271921485	missense variant	-	NC_000001.11:g.201283757G>A	gnomAD
PKP1	Q13835	p.Asn20Ser	rs199604952	missense variant	-	NC_000001.11:g.201283761A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu23Ser	rs1201125089	missense variant	-	NC_000001.11:g.201283770T>C	gnomAD
PKP1	Q13835	p.Ala24Ser	rs1486454180	missense variant	-	NC_000001.11:g.201283772G>T	gnomAD
PKP1	Q13835	p.Leu25Trp	rs1211069504	missense variant	-	NC_000001.11:g.201283776T>G	gnomAD
PKP1	Q13835	p.Leu25Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201283776T>C	NCI-TCGA
PKP1	Q13835	p.Pro26Leu	rs377481646	missense variant	-	NC_000001.11:g.201283779C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp28Asn	rs1195751281	missense variant	-	NC_000001.11:g.201283784G>A	gnomAD
PKP1	Q13835	p.Asp28Glu	rs751815067	missense variant	-	NC_000001.11:g.201283786C>A	ExAC,gnomAD
PKP1	Q13835	p.Gln29Arg	rs975952428	missense variant	-	NC_000001.11:g.201283788A>G	TOPMed
PKP1	Q13835	p.Gln29Ter	rs1475350964	stop gained	-	NC_000001.11:g.201283787C>T	gnomAD
PKP1	Q13835	p.Lys30Thr	rs757475801	missense variant	-	NC_000001.11:g.201283791A>C	ExAC,gnomAD
PKP1	Q13835	p.Lys30Asn	rs1322769789	missense variant	-	NC_000001.11:g.201283792G>T	TOPMed
PKP1	Q13835	p.Met31Val	rs370900946	missense variant	-	NC_000001.11:g.201283793A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr33Ile	rs1435578626	missense variant	-	NC_000001.11:g.201283800C>T	gnomAD
PKP1	Q13835	p.Thr33Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201283799A>G	NCI-TCGA
PKP1	Q13835	p.Gly34Val	rs749292645	missense variant	-	NC_000001.11:g.201283803G>T	ExAC
PKP1	Q13835	p.Thr35Met	rs780267593	missense variant	-	NC_000001.11:g.201283806C>T	TOPMed,gnomAD
PKP1	Q13835	p.Gly37Arg	rs1400323054	missense variant	-	NC_000001.11:g.201283811G>C	gnomAD
PKP1	Q13835	p.Arg38Lys	rs1320012247	missense variant	-	NC_000001.11:g.201283815G>A	gnomAD
PKP1	Q13835	p.Arg38Gly	rs754822585	missense variant	-	NC_000001.11:g.201283814A>G	ExAC,gnomAD
PKP1	Q13835	p.Arg38Ser	rs375084708	missense variant	-	NC_000001.11:g.201283816G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln39Glu	rs747869491	missense variant	-	NC_000001.11:g.201283817C>G	ExAC,gnomAD
PKP1	Q13835	p.Glu43Lys	rs1390932890	missense variant	-	NC_000001.11:g.201283829G>A	TOPMed
PKP1	Q13835	p.Met46Leu	rs369806569	missense variant	-	NC_000001.11:g.201283838A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met46Val	rs369806569	missense variant	-	NC_000001.11:g.201283838A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met46Leu	RCV000266980	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201283838A>T	ClinVar
PKP1	Q13835	p.Met47Val	rs1482053129	missense variant	-	NC_000001.11:g.201283841A>G	gnomAD
PKP1	Q13835	p.Arg51Trp	rs181972441	missense variant	-	NC_000001.11:g.201283853C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln52Lys	rs200433412	missense variant	-	NC_000001.11:g.201283856C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln52His	rs1397427322	missense variant	-	NC_000001.11:g.201283858G>T	TOPMed,gnomAD
PKP1	Q13835	p.Gln52Arg	rs1187154159	missense variant	-	NC_000001.11:g.201283857A>G	gnomAD
PKP1	Q13835	p.Lys53Glu	rs1422306414	missense variant	-	NC_000001.11:g.201283859A>G	TOPMed
PKP1	Q13835	p.Lys53Arg	rs199797410	missense variant	-	NC_000001.11:g.201283860A>G	1000Genomes,ExAC
PKP1	Q13835	p.Ser54Cys	rs765625993	missense variant	-	NC_000001.11:g.201283863C>G	ExAC,gnomAD
PKP1	Q13835	p.Lys55Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201283866A>G	NCI-TCGA
PKP1	Q13835	p.Ser56Cys	rs776004636	missense variant	-	NC_000001.11:g.201283869C>G	ExAC,gnomAD
PKP1	Q13835	p.Ser57Pro	rs1376177104	missense variant	-	NC_000001.11:g.201283871T>C	gnomAD
PKP1	Q13835	p.Gln58His	rs560818766	missense variant	-	NC_000001.11:g.201283876G>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Ser59Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201283878C>T	NCI-TCGA
PKP1	Q13835	p.Ser60Phe	rs751867536	missense variant	-	NC_000001.11:g.201283881C>T	ExAC,gnomAD
PKP1	Q13835	p.Ser60Pro	rs764546449	missense variant	-	NC_000001.11:g.201283880T>C	ExAC,gnomAD
PKP1	Q13835	p.Ser63Arg	rs1441056275	missense variant	-	NC_000001.11:g.201283891C>A	gnomAD
PKP1	Q13835	p.His64Arg	rs1310097346	missense variant	-	NC_000001.11:g.201283893A>G	gnomAD
PKP1	Q13835	p.His64Tyr	rs529709320	missense variant	-	NC_000001.11:g.201283892C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn66Ser	rs1261682384	missense variant	-	NC_000001.11:g.201283899A>G	TOPMed,gnomAD
PKP1	Q13835	p.Arg67Gln	COSM4026911	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201283902G>A	NCI-TCGA Cosmic
PKP1	Q13835	p.Gly68Ser	rs748066233	missense variant	-	NC_000001.11:g.201283904G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly68Asp	rs1407567667	missense variant	-	NC_000001.11:g.201293942G>A	TOPMed,gnomAD
PKP1	Q13835	p.Met70Val	rs777570553	missense variant	-	NC_000001.11:g.201293947A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr71Cys	rs751318467	missense variant	-	NC_000001.11:g.201293951A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr71Phe	rs751318467	missense variant	-	NC_000001.11:g.201293951A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp72Glu	rs1228107718	missense variant	-	NC_000001.11:g.201293955T>A	gnomAD
PKP1	Q13835	p.Ala75Ser	rs780653634	missense variant	-	NC_000001.11:g.201293962G>T	ExAC,gnomAD
PKP1	Q13835	p.Ala75Val	rs1205339613	missense variant	-	NC_000001.11:g.201293963C>T	TOPMed,gnomAD
PKP1	Q13835	p.Asp76Gly	rs1388581264	missense variant	-	NC_000001.11:g.201293966A>G	TOPMed
PKP1	Q13835	p.Asn77Ser	rs150847034	missense variant	-	NC_000001.11:g.201293969A>G	ESP,ExAC,gnomAD
PKP1	Q13835	p.Asn79His	rs1258471543	missense variant	-	NC_000001.11:g.201293974A>C	gnomAD
PKP1	Q13835	p.Gly81Arg	RCV000326818	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201293980G>A	ClinVar
PKP1	Q13835	p.Gly81Glu	rs769244881	missense variant	-	NC_000001.11:g.201293981G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly81Arg	rs147328328	missense variant	-	NC_000001.11:g.201293980G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr82Asn	rs774859542	missense variant	-	NC_000001.11:g.201293984C>A	ExAC,gnomAD
PKP1	Q13835	p.Thr82Ala	rs1055003862	missense variant	-	NC_000001.11:g.201293983A>G	gnomAD
PKP1	Q13835	p.Ser84Arg	rs762024333	missense variant	-	NC_000001.11:g.201293991C>G	ExAC,gnomAD
PKP1	Q13835	p.Arg85Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201293994G>T	NCI-TCGA
PKP1	Q13835	p.Arg85Lys	rs1413079616	missense variant	-	NC_000001.11:g.201293993G>A	TOPMed
PKP1	Q13835	p.Ser87Asn	rs894879135	missense variant	-	NC_000001.11:g.201293999G>A	gnomAD
PKP1	Q13835	p.Tyr88Cys	RCV000362830	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201294002A>G	ClinVar
PKP1	Q13835	p.Tyr88Cys	rs141060367	missense variant	-	NC_000001.11:g.201294002A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr88Ter	rs760921095	stop gained	-	NC_000001.11:g.201294003C>G	ExAC,gnomAD
PKP1	Q13835	p.Tyr89Phe	rs1364739266	missense variant	-	NC_000001.11:g.201294005A>T	gnomAD
PKP1	Q13835	p.Lys91Arg	rs146997188	missense variant	-	NC_000001.11:g.201294011A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Phe92Ile	rs571591332	missense variant	-	NC_000001.11:g.201294013T>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly97Ser	rs1236580317	missense variant	-	NC_000001.11:g.201294028G>A	gnomAD
PKP1	Q13835	p.Gly97Asp	rs762914218	missense variant	-	NC_000001.11:g.201294029G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly97Ala	rs762914218	missense variant	-	NC_000001.11:g.201294029G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser98Leu	rs1209186439	missense variant	-	NC_000001.11:g.201294032C>T	gnomAD
PKP1	Q13835	p.Trp99Cys	rs767309700	missense variant	-	NC_000001.11:g.201294036G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly100Arg	rs750089705	missense variant	-	NC_000001.11:g.201294037G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly100Val	rs1247343030	missense variant	-	NC_000001.11:g.201294038G>T	gnomAD
PKP1	Q13835	p.Tyr101His	rs1447182660	missense variant	-	NC_000001.11:g.201294040T>C	gnomAD
PKP1	Q13835	p.Pro102Leu	rs367643085	missense variant	-	NC_000001.11:g.201294044C>T	NCI-TCGA,NCI-TCGA Cosmic
PKP1	Q13835	p.Pro102Leu	rs367643085	missense variant	-	NC_000001.11:g.201294044C>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Tyr104Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201313170A>G	NCI-TCGA
PKP1	Q13835	p.Asn105Ser	rs755831958	missense variant	-	NC_000001.11:g.201313173A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly106Arg	rs766071375	missense variant	-	NC_000001.11:g.201313175G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly106Val	rs1218704370	missense variant	-	NC_000001.11:g.201313176G>T	gnomAD
PKP1	Q13835	p.Gly106Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.201313175G>T	NCI-TCGA
PKP1	Q13835	p.Lys109Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201313186G>T	NCI-TCGA
PKP1	Q13835	p.Arg110Trp	rs754600520	missense variant	-	NC_000001.11:g.201313187C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg110Gln	rs150161614	missense variant	-	NC_000001.11:g.201313188G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu111Lys	rs1278298829	missense variant	-	NC_000001.11:g.201313190G>A	TOPMed
PKP1	Q13835	p.Pro112Ser	rs567375958	missense variant	-	NC_000001.11:g.201313193C>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Arg115Lys	rs147062963	missense variant	-	NC_000001.11:g.201313203G>A	ESP,TOPMed,gnomAD
PKP1	Q13835	p.Arg116His	rs34626929	missense variant	-	NC_000001.11:g.201313206G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg116Cys	RCV000273008	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313205C>T	ClinVar
PKP1	Q13835	p.Arg116Cys	rs536458815	missense variant	-	NC_000001.11:g.201313205C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg116Gly	rs536458815	missense variant	-	NC_000001.11:g.201313205C>G	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg116Leu	rs34626929	missense variant	-	NC_000001.11:g.201313206G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg116His	RCV000328092	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313206G>A	ClinVar
PKP1	Q13835	p.Ser119Cys	COSM458315	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201313215C>G	NCI-TCGA Cosmic
PKP1	Q13835	p.Ser121Cys	rs1054931349	missense variant	-	NC_000001.11:g.201313220A>T	TOPMed,gnomAD
PKP1	Q13835	p.Ser121Asn	rs1409369692	missense variant	-	NC_000001.11:g.201313221G>A	gnomAD
PKP1	Q13835	p.Met123Ile	rs746089095	missense variant	-	NC_000001.11:g.201313228G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met123Leu	rs776898540	missense variant	-	NC_000001.11:g.201313226A>T	ExAC,gnomAD
PKP1	Q13835	p.Asn125Lys	rs769907783	missense variant	-	NC_000001.11:g.201313234C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Trp126Cys	RCV000387306	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313237G>C	ClinVar
PKP1	Q13835	p.Trp126Ter	rs886045808	stop gained	-	NC_000001.11:g.201313237G>A	TOPMed,gnomAD
PKP1	Q13835	p.Trp126Cys	rs886045808	missense variant	-	NC_000001.11:g.201313237G>C	TOPMed,gnomAD
PKP1	Q13835	p.Ser127Gly	COSM902143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201313238A>G	NCI-TCGA Cosmic
PKP1	Q13835	p.Arg128Trp	rs1276102421	missense variant	-	NC_000001.11:g.201313241C>T	TOPMed,gnomAD
PKP1	Q13835	p.Arg128Gln	rs775588543	missense variant	-	NC_000001.11:g.201313242G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg128Leu	rs775588543	missense variant	-	NC_000001.11:g.201313242G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.His129Arg	rs369088645	missense variant	-	NC_000001.11:g.201313245A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.His129Asn	rs1249139986	missense variant	-	NC_000001.11:g.201313244C>A	gnomAD
PKP1	Q13835	p.Tyr130His	rs570209532	missense variant	-	NC_000001.11:g.201313247T>C	1000Genomes,gnomAD
PKP1	Q13835	p.Tyr130Cys	rs371948391	missense variant	-	NC_000001.11:g.201313248A>G	ESP,gnomAD
PKP1	Q13835	p.Pro131Thr	rs767417910	missense variant	-	NC_000001.11:g.201313250C>A	ExAC,gnomAD
PKP1	Q13835	p.Pro131Leu	rs1169732010	missense variant	-	NC_000001.11:g.201313251C>T	gnomAD
PKP1	Q13835	p.Arg132Trp	rs772895613	missense variant	-	NC_000001.11:g.201313253C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg132Gln	rs376443293	missense variant	-	NC_000001.11:g.201313254G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg132Leu	rs376443293	missense variant	-	NC_000001.11:g.201313254G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly133Arg	rs538996300	missense variant	-	NC_000001.11:g.201313256G>C	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Gly133Asp	rs1334506835	missense variant	-	NC_000001.11:g.201313257G>A	gnomAD
PKP1	Q13835	p.Ser134Arg	rs1339834507	missense variant	-	NC_000001.11:g.201313261C>A	gnomAD
PKP1	Q13835	p.Cys135Ser	rs1242432172	missense variant	-	NC_000001.11:g.201313263G>C	gnomAD
PKP1	Q13835	p.Asn136Asp	rs1299189237	missense variant	-	NC_000001.11:g.201313265A>G	gnomAD
PKP1	Q13835	p.Asn136Thr	rs753586154	missense variant	-	NC_000001.11:g.201313266A>C	ExAC,gnomAD
PKP1	Q13835	p.Thr137Ile	rs1247703903	missense variant	-	NC_000001.11:g.201313269C>T	gnomAD
PKP1	Q13835	p.Thr138Ile	rs764675865	missense variant	-	NC_000001.11:g.201313272C>T	ExAC,gnomAD
PKP1	Q13835	p.Gly139Ser	rs200423351	missense variant	-	NC_000001.11:g.201313274G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly139Cys	rs200423351	missense variant	-	NC_000001.11:g.201313274G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly139Asp	rs1464210981	missense variant	-	NC_000001.11:g.201313275G>A	TOPMed
PKP1	Q13835	p.Ala140Thr	RCV000293537	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313277G>A	ClinVar
PKP1	Q13835	p.Ala140Pro	rs77893096	missense variant	-	NC_000001.11:g.201313277G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala140Ser	rs77893096	missense variant	-	NC_000001.11:g.201313277G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala140Thr	rs77893096	missense variant	-	NC_000001.11:g.201313277G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly141Val	COSM2212211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201313281G>T	NCI-TCGA Cosmic
PKP1	Q13835	p.Gly141Asp	rs1196031895	missense variant	-	NC_000001.11:g.201313281G>A	gnomAD
PKP1	Q13835	p.Asp143Asn	rs746108244	missense variant	-	NC_000001.11:g.201313286G>A	ExAC,gnomAD
PKP1	Q13835	p.Ile144Met	rs139245064	missense variant	-	NC_000001.11:g.201313291C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile144Leu	rs770013396	missense variant	-	NC_000001.11:g.201313289A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys145Tyr	rs768604582	missense variant	-	NC_000001.11:g.201313293G>A	ExAC,gnomAD
PKP1	Q13835	p.Cys145Gly	rs749331370	missense variant	-	NC_000001.11:g.201313292T>G	ExAC,gnomAD
PKP1	Q13835	p.Met147Val	rs1315615003	missense variant	-	NC_000001.11:g.201313298A>G	TOPMed
PKP1	Q13835	p.Met147Ile	rs1394053395	missense variant	-	NC_000001.11:g.201313300G>C	gnomAD
PKP1	Q13835	p.Gln148Lys	rs1322541781	missense variant	-	NC_000001.11:g.201313301C>A	gnomAD
PKP1	Q13835	p.Gln148Glu	rs1322541781	missense variant	-	NC_000001.11:g.201313301C>G	gnomAD
PKP1	Q13835	p.Lys149Asn	rs1433748015	missense variant	-	NC_000001.11:g.201313306A>C	gnomAD
PKP1	Q13835	p.Lys151Ter	rs1266735745	stop gained	-	NC_000001.11:g.201313310A>T	TOPMed
PKP1	Q13835	p.Lys151Asn	rs149029415	missense variant	-	NC_000001.11:g.201313312G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala152Val	rs776519471	missense variant	-	NC_000001.11:g.201313314C>T	ExAC,gnomAD
PKP1	Q13835	p.Ser153Asn	rs1255039917	missense variant	-	NC_000001.11:g.201313317G>A	gnomAD
PKP1	Q13835	p.Arg154His	rs762587116	missense variant	-	NC_000001.11:g.201313320G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg154Leu	rs762587116	missense variant	-	NC_000001.11:g.201313320G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg154Cys	rs151214763	missense variant	-	NC_000001.11:g.201313319C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu156Lys	rs1186787442	missense variant	-	NC_000001.11:g.201313325G>A	gnomAD
PKP1	Q13835	p.Pro157Ser	rs1433993818	missense variant	-	NC_000001.11:g.201313328C>T	gnomAD
PKP1	Q13835	p.Asp158Tyr	rs764983461	missense variant	-	NC_000001.11:g.201313331G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp158Gly	rs1464389205	missense variant	-	NC_000001.11:g.201313332A>G	gnomAD
PKP1	Q13835	p.Asp158Asn	rs764983461	missense variant	-	NC_000001.11:g.201313331G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu159Ile	rs367893541	missense variant	-	NC_000001.11:g.201313334C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr160Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.201313339C>A	NCI-TCGA
PKP1	Q13835	p.Tyr160Cys	rs1456581726	missense variant	-	NC_000001.11:g.201313338A>G	gnomAD
PKP1	Q13835	p.Cys161Gly	rs1317977405	missense variant	-	NC_000001.11:g.201313340T>G	gnomAD
PKP1	Q13835	p.Cys161Phe	rs34704938	missense variant	-	NC_000001.11:g.201313341G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys161Tyr	rs34704938	missense variant	-	NC_000001.11:g.201313341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys161Tyr	RCV000332114	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313341G>A	ClinVar
PKP1	Q13835	p.Asp162Gly	rs1366789268	missense variant	-	NC_000001.11:g.201313344A>G	TOPMed
PKP1	Q13835	p.Pro163Leu	rs779112141	missense variant	-	NC_000001.11:g.201313347C>T	ExAC,gnomAD
PKP1	Q13835	p.Arg164Gln	rs143927870	missense variant	-	NC_000001.11:g.201313350G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg164Trp	rs576171894	missense variant	-	NC_000001.11:g.201313349C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly165Arg	rs776572497	missense variant	-	NC_000001.11:g.201313352G>C	ExAC,gnomAD
PKP1	Q13835	p.Gly165Ser	rs776572497	missense variant	-	NC_000001.11:g.201313352G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly165Asp	rs544993083	missense variant	-	NC_000001.11:g.201313353G>A	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Thr166Asn	rs1207320070	missense variant	-	NC_000001.11:g.201313356C>A	gnomAD
PKP1	Q13835	p.Leu167Pro	rs1488884276	missense variant	-	NC_000001.11:g.201313359T>C	gnomAD
PKP1	Q13835	p.Arg168His	rs200647803	missense variant	-	NC_000001.11:g.201313362G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg168Ser	rs527683180	missense variant	-	NC_000001.11:g.201313361C>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg168Cys	rs527683180	missense variant	-	NC_000001.11:g.201313361C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg168Leu	rs200647803	missense variant	-	NC_000001.11:g.201313362G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly170Ser	rs983984315	missense variant	-	NC_000001.11:g.201313367G>A	gnomAD
PKP1	Q13835	p.Thr171Met	rs1472136920	missense variant	-	NC_000001.11:g.201313371C>T	TOPMed,gnomAD
PKP1	Q13835	p.Gly173Ser	rs1458014783	missense variant	-	NC_000001.11:g.201313376G>A	gnomAD
PKP1	Q13835	p.Gly173Ala	rs932061675	missense variant	-	NC_000001.11:g.201313377G>C	TOPMed,gnomAD
PKP1	Q13835	p.Gly173Asp	rs932061675	missense variant	-	NC_000001.11:g.201313377G>A	TOPMed,gnomAD
PKP1	Q13835	p.Ser174Asn	rs1052377399	missense variant	-	NC_000001.11:g.201313380G>A	TOPMed,gnomAD
PKP1	Q13835	p.Lys175Arg	rs756567842	missense variant	-	NC_000001.11:g.201313383A>G	ExAC,gnomAD
PKP1	Q13835	p.Lys175Glu	rs750915178	missense variant	-	NC_000001.11:g.201313382A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly176Asp	rs755107849	missense variant	-	NC_000001.11:g.201313386G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly176Cys	rs754137436	missense variant	-	NC_000001.11:g.201313385G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys178Thr	rs1311567348	missense variant	-	NC_000001.11:g.201313392A>C	gnomAD
PKP1	Q13835	p.Thr179Ser	rs1322823530	missense variant	-	NC_000001.11:g.201313395C>G	gnomAD
PKP1	Q13835	p.Asn182His	rs148156855	missense variant	-	NC_000001.11:g.201313403A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn182Thr	rs1484139238	missense variant	-	NC_000001.11:g.201313404A>C	gnomAD
PKP1	Q13835	p.Arg183Leu	rs781340038	missense variant	-	NC_000001.11:g.201313407G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg183His	rs781340038	missense variant	-	NC_000001.11:g.201313407G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg183Ser	rs1057162135	missense variant	-	NC_000001.11:g.201313406C>A	TOPMed,gnomAD
PKP1	Q13835	p.Arg183Cys	rs1057162135	missense variant	-	NC_000001.11:g.201313406C>T	TOPMed,gnomAD
PKP1	Q13835	p.Tyr184Cys	rs745792455	missense variant	-	NC_000001.11:g.201313410A>G	ExAC,gnomAD
PKP1	Q13835	p.Ser185Asn	rs769672961	missense variant	-	NC_000001.11:g.201313413G>A	ExAC,gnomAD
PKP1	Q13835	p.Ser188Arg	rs775128783	missense variant	-	NC_000001.11:g.201313423C>G	ExAC,gnomAD
PKP1	Q13835	p.Ser188Asn	rs1424282636	missense variant	-	NC_000001.11:g.201313422G>A	gnomAD
PKP1	Q13835	p.Cys190Phe	rs1459930976	missense variant	-	NC_000001.11:g.201313428G>T	TOPMed,gnomAD
PKP1	Q13835	p.Cys190Trp	rs1382790039	missense variant	-	NC_000001.11:g.201313429C>G	gnomAD
PKP1	Q13835	p.Gly192Ser	rs1431089307	missense variant	-	NC_000001.11:g.201313433G>A	gnomAD
PKP1	Q13835	p.Gln193His	rs34769677	missense variant	-	NC_000001.11:g.201313438G>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Ala195Thr	rs1408434722	missense variant	-	NC_000001.11:g.201313442G>A	TOPMed,gnomAD
PKP1	Q13835	p.Ile196Val	rs35507614	missense variant	-	NC_000001.11:g.201313445A>G	UniProt,dbSNP
PKP1	Q13835	p.Ile196Val	VAR_033528	missense variant	-	NC_000001.11:g.201313445A>G	UniProt
PKP1	Q13835	p.Ile196Val	rs35507614	missense variant	-	NC_000001.11:g.201313445A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile196Val	RCV000388950	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313445A>G	ClinVar
PKP1	Q13835	p.Lys197Asn	rs767009885	missense variant	-	NC_000001.11:g.201313450G>C	ExAC,gnomAD
PKP1	Q13835	p.Lys197Asn	rs767009885	missense variant	-	NC_000001.11:g.201313450G>T	ExAC,gnomAD
PKP1	Q13835	p.Lys197Arg	rs1380539394	missense variant	-	NC_000001.11:g.201313449A>G	gnomAD
PKP1	Q13835	p.Lys198Thr	rs773749001	missense variant	-	NC_000001.11:g.201313452A>C	ExAC,gnomAD
PKP1	Q13835	p.Cys199Arg	rs1344498221	missense variant	-	NC_000001.11:g.201313454T>C	gnomAD
PKP1	Q13835	p.Pro200Ser	rs761063340	missense variant	-	NC_000001.11:g.201313457C>T	ExAC,gnomAD
PKP1	Q13835	p.Arg202His	RCV000278105	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313464G>A	ClinVar
PKP1	Q13835	p.Arg202His	rs78314242	missense variant	-	NC_000001.11:g.201313464G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg202Cys	rs144063217	missense variant	-	NC_000001.11:g.201313463C>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Arg202Gly	rs144063217	missense variant	-	NC_000001.11:g.201313463C>G	ESP,ExAC,gnomAD
PKP1	Q13835	p.Pro203Leu	rs1202220475	missense variant	-	NC_000001.11:g.201313467C>T	TOPMed,gnomAD
PKP1	Q13835	p.Pro203Ser	rs371876880	missense variant	-	NC_000001.11:g.201313466C>T	ESP,TOPMed
PKP1	Q13835	p.Ala207Val	rs1181267093	missense variant	-	NC_000001.11:g.201313479C>T	gnomAD
PKP1	Q13835	p.Ser208Phe	rs751008697	missense variant	-	NC_000001.11:g.201313482C>T	TOPMed,gnomAD
PKP1	Q13835	p.Asp211Asn	rs745870553	missense variant	-	NC_000001.11:g.201313490G>A	ExAC
PKP1	Q13835	p.Pro212Thr	rs755962486	missense variant	-	NC_000001.11:g.201313493C>A	ExAC,gnomAD
PKP1	Q13835	p.Pro216Leu	rs779899110	missense variant	-	NC_000001.11:g.201313506C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Pro216Gln	rs779899110	missense variant	-	NC_000001.11:g.201313506C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile218Val	rs1335367450	missense variant	-	NC_000001.11:g.201313511A>G	gnomAD
PKP1	Q13835	p.Lys222Met	rs1297579127	missense variant	-	NC_000001.11:g.201313524A>T	TOPMed
PKP1	Q13835	p.Lys222Arg	rs1297579127	missense variant	-	NC_000001.11:g.201313524A>G	TOPMed
PKP1	Q13835	p.Ser225Pro	rs774055337	missense variant	-	NC_000001.11:g.201313532T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Phe226Val	rs747765447	missense variant	-	NC_000001.11:g.201313535T>G	ExAC,gnomAD
PKP1	Q13835	p.Gly227Arg	rs373022722	missense variant	-	NC_000001.11:g.201313538G>C	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly227Ser	rs373022722	missense variant	-	NC_000001.11:g.201313538G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser229Cys	rs1465251366	missense variant	-	NC_000001.11:g.201313545C>G	TOPMed
PKP1	Q13835	p.Ser229Ala	rs761277402	missense variant	-	NC_000001.11:g.201313544T>G	ExAC,gnomAD
PKP1	Q13835	p.Arg230Thr	rs1221095599	missense variant	-	NC_000001.11:g.201313548G>C	gnomAD
PKP1	Q13835	p.Ala231Thr	rs1312625224	missense variant	-	NC_000001.11:g.201313550G>A	gnomAD
PKP1	Q13835	p.Ser233Phe	rs1261229733	missense variant	-	NC_000001.11:g.201313557C>T	gnomAD
PKP1	Q13835	p.Lys234Asn	rs763269762	missense variant	-	NC_000001.11:g.201316553G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys234Arg	rs1466158867	missense variant	-	NC_000001.11:g.201313560A>G	gnomAD
PKP1	Q13835	p.Lys234Asn	rs763269762	missense variant	-	NC_000001.11:g.201316553G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser237Asn	rs1313335960	missense variant	-	NC_000001.11:g.201316561G>A	TOPMed
PKP1	Q13835	p.Ser237Gly	rs751791220	missense variant	-	NC_000001.11:g.201316560A>G	ExAC,gnomAD
PKP1	Q13835	p.Glu241Asp	rs753766542	missense variant	-	NC_000001.11:g.201316574G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu241Lys	rs575798229	missense variant	-	NC_000001.11:g.201316572G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys242Ter	COSM902151	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.201316577C>A	NCI-TCGA Cosmic
PKP1	Q13835	p.Cys242Tyr	rs544439085	missense variant	-	NC_000001.11:g.201316576G>A	1000Genomes,ExAC,TOPMed
PKP1	Q13835	p.Ser243Asn	rs1219867452	missense variant	-	NC_000001.11:g.201316579G>A	gnomAD
PKP1	Q13835	p.Ser243Arg	rs375931616	missense variant	-	NC_000001.11:g.201316580T>A	ESP,ExAC,gnomAD
PKP1	Q13835	p.Leu245Met	rs7514146	missense variant	-	NC_000001.11:g.201316584C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr246Ser	rs758060401	missense variant	-	NC_000001.11:g.201316587A>T	ExAC,gnomAD
PKP1	Q13835	p.Pro248Thr	rs1362589233	missense variant	-	NC_000001.11:g.201316593C>A	gnomAD
PKP1	Q13835	p.Ala250Ser	rs777350201	missense variant	-	NC_000001.11:g.201316599G>T	ExAC,gnomAD
PKP1	Q13835	p.Ala250Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201316600C>T	NCI-TCGA
PKP1	Q13835	p.Ala250Thr	rs777350201	missense variant	-	NC_000001.11:g.201316599G>A	ExAC,gnomAD
PKP1	Q13835	p.Val251Leu	rs770390936	missense variant	-	NC_000001.11:g.201316602G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val251Met	rs770390936	missense variant	-	NC_000001.11:g.201316602G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser255Arg	rs1371379371	missense variant	-	NC_000001.11:g.201316616C>A	gnomAD
PKP1	Q13835	p.Ser255Thr	rs1170766058	missense variant	-	NC_000001.11:g.201316615G>C	gnomAD
PKP1	Q13835	p.Ser255Gly	rs746403585	missense variant	-	NC_000001.11:g.201316614A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp258Asn	COSM3984607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201316623G>A	NCI-TCGA Cosmic
PKP1	Q13835	p.Glu259Lys	rs770387949	missense variant	-	NC_000001.11:g.201316626G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys260Met	rs142131454	missense variant	-	NC_000001.11:g.201316630A>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys260Asn	rs1779297	missense variant	-	NC_000001.11:g.201316631G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr261His	rs528045800	missense variant	-	NC_000001.11:g.201316632T>C	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Ala263Thr	rs762072549	missense variant	-	NC_000001.11:g.201316638G>A	ExAC,gnomAD
PKP1	Q13835	p.Ala263Val	rs767514466	missense variant	-	NC_000001.11:g.201316639C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala263Asp	rs767514466	missense variant	-	NC_000001.11:g.201316639C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile264Val	rs773235619	missense variant	-	NC_000001.11:g.201316641A>G	ExAC,gnomAD
PKP1	Q13835	p.Ile264Thr	rs369999615	missense variant	-	NC_000001.11:g.201316642T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly265Arg	rs1183143451	missense variant	-	NC_000001.11:g.201316644G>A	TOPMed
PKP1	Q13835	p.Ala266Asp	rs752617382	missense variant	-	NC_000001.11:g.201316648C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala266Thr	rs765102835	missense variant	-	NC_000001.11:g.201316647G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr267Asn	rs758196282	missense variant	-	NC_000001.11:g.201316650T>A	ExAC,gnomAD
PKP1	Q13835	p.Gln270Ter	rs763920731	stop gained	-	NC_000001.11:g.201316659C>T	ExAC,gnomAD
PKP1	Q13835	p.Thr272Ile	rs1167122922	missense variant	-	NC_000001.11:g.201316666C>T	TOPMed,gnomAD
PKP1	Q13835	p.Thr272Ala	rs1429275552	missense variant	-	NC_000001.11:g.201316665A>G	TOPMed,gnomAD
PKP1	Q13835	p.Cys273Arg	rs756889590	missense variant	-	NC_000001.11:g.201316668T>C	ExAC,gnomAD
PKP1	Q13835	p.Cys273Tyr	rs970789193	missense variant	-	NC_000001.11:g.201316669G>A	gnomAD
PKP1	Q13835	p.Phe274Leu	RCV000281650	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201316673C>G	ClinVar
PKP1	Q13835	p.Phe274Leu	rs886045810	missense variant	-	NC_000001.11:g.201316673C>G	-
PKP1	Q13835	p.Gln275Leu	rs780602512	missense variant	-	NC_000001.11:g.201316675A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp276Val	rs1449856757	missense variant	-	NC_000001.11:g.201316678A>T	gnomAD
PKP1	Q13835	p.Asp276Tyr	rs191741262	missense variant	-	NC_000001.11:g.201316677G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys280Thr	rs1317412375	missense variant	-	NC_000001.11:g.201316690A>C	TOPMed
PKP1	Q13835	p.Gln281Ter	RCV000585663	nonsense	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201316692C>T	ClinVar
PKP1	Q13835	p.Gln281Ter	rs1553275192	stop gained	-	NC_000001.11:g.201316692C>T	-
PKP1	Q13835	p.Gln282Arg	rs755668320	missense variant	-	NC_000001.11:g.201316696A>G	ExAC,gnomAD
PKP1	Q13835	p.Gln282Glu	rs1299124137	missense variant	-	NC_000001.11:g.201316695C>G	gnomAD
PKP1	Q13835	p.Tyr284Cys	rs983761036	missense variant	-	NC_000001.11:g.201317576A>G	TOPMed,gnomAD
PKP1	Q13835	p.Gln285Arg	rs755470231	missense variant	-	NC_000001.11:g.201317579A>G	ExAC,gnomAD
PKP1	Q13835	p.Leu286Arg	rs1278309769	missense variant	-	NC_000001.11:g.201317582T>G	TOPMed
PKP1	Q13835	p.Gly288Asp	rs1286574662	missense variant	-	NC_000001.11:g.201317588G>A	gnomAD
PKP1	Q13835	p.Ile289Asn	rs779150281	missense variant	-	NC_000001.11:g.201317591T>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys290Phe	rs1386934403	missense variant	-	NC_000001.11:g.201317594G>T	gnomAD
PKP1	Q13835	p.Val293Met	rs1344655333	missense variant	-	NC_000001.11:g.201317602G>A	TOPMed
PKP1	Q13835	p.Asp294Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201317606A>G	NCI-TCGA
PKP1	Q13835	p.Leu295Ile	rs150414253	missense variant	-	NC_000001.11:g.201317608C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu295Val	rs150414253	missense variant	-	NC_000001.11:g.201317608C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu296Phe	rs564123317	missense variant	-	NC_000001.11:g.201317611C>T	1000Genomes,ExAC
PKP1	Q13835	p.Arg297Gly	rs368718493	missense variant	-	NC_000001.11:g.201317614C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg297Cys	rs368718493	missense variant	-	NC_000001.11:g.201317614C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg297His	rs771050304	missense variant	-	NC_000001.11:g.201317615G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Pro299Ser	rs757337621	missense variant	-	NC_000001.11:g.201317620C>T	ExAC,gnomAD
PKP1	Q13835	p.Asn300Thr	RCV000341126	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201317624A>C	ClinVar
PKP1	Q13835	p.Asn300Ser	rs552414505	missense variant	-	NC_000001.11:g.201317624A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn300Thr	rs552414505	missense variant	-	NC_000001.11:g.201317624A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn302Lys	rs190053583	missense variant	-	NC_000001.11:g.201317631C>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn302Ile	rs1222099337	missense variant	-	NC_000001.11:g.201317630A>T	TOPMed,gnomAD
PKP1	Q13835	p.Asn302Ser	rs1222099337	missense variant	-	NC_000001.11:g.201317630A>G	TOPMed,gnomAD
PKP1	Q13835	p.Asn302Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201317629A>T	NCI-TCGA
PKP1	Q13835	p.Val303Phe	rs143092948	missense variant	-	NC_000001.11:g.201317632G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val303Ile	rs143092948	missense variant	-	NC_000001.11:g.201317632G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln304Arg	rs1416707756	missense variant	-	NC_000001.11:g.201317636A>G	TOPMed
PKP1	Q13835	p.Gln304Ter	rs121918354	stop gained	-	NC_000001.11:g.201317635C>T	gnomAD
PKP1	Q13835	p.Gln304Ter	RCV000008041	nonsense	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201317635C>T	ClinVar
PKP1	Q13835	p.Gln304Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201317636A>T	NCI-TCGA
PKP1	Q13835	p.Gln305Leu	rs760352453	missense variant	-	NC_000001.11:g.201317639A>T	ExAC,gnomAD
PKP1	Q13835	p.Ala306Ser	rs1418362759	missense variant	-	NC_000001.11:g.201317641G>T	gnomAD
PKP1	Q13835	p.Ala306Asp	rs1029639917	missense variant	-	NC_000001.11:g.201317642C>A	TOPMed,gnomAD
PKP1	Q13835	p.Ala307Thr	rs142112484	missense variant	-	NC_000001.11:g.201317644G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala307Val	rs536481505	missense variant	-	NC_000001.11:g.201317645C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala307Ser	rs142112484	missense variant	-	NC_000001.11:g.201317644G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala308Pro	rs529199336	missense variant	-	NC_000001.11:g.201317647G>C	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly309Glu	rs778090662	missense variant	-	NC_000001.11:g.201317651G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly309Trp	rs1308970654	missense variant	-	NC_000001.11:g.201317650G>T	gnomAD
PKP1	Q13835	p.Ala310Thr	rs747256472	missense variant	-	NC_000001.11:g.201317653G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala310Gly	rs771105522	missense variant	-	NC_000001.11:g.201317654C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu311Pro	rs745907195	missense variant	-	NC_000001.11:g.201317657T>C	ExAC,gnomAD
PKP1	Q13835	p.Arg312His	rs769754162	missense variant	-	NC_000001.11:g.201317660G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg312Cys	rs1412701858	missense variant	-	NC_000001.11:g.201317659C>T	TOPMed
PKP1	Q13835	p.Asn313Asp	rs774382764	missense variant	-	NC_000001.11:g.201317662A>G	ExAC,gnomAD
PKP1	Q13835	p.Val315Gly	rs1251620348	missense variant	-	NC_000001.11:g.201317669T>G	gnomAD
PKP1	Q13835	p.Arg317Gly	rs1006759897	missense variant	-	NC_000001.11:g.201317674A>G	gnomAD
PKP1	Q13835	p.Arg317Met	COSM116767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201317675G>T	NCI-TCGA Cosmic
PKP1	Q13835	p.Ser318Ile	COSM4026913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201317678G>T	NCI-TCGA Cosmic
PKP1	Q13835	p.Ser318Gly	rs773099218	missense variant	-	NC_000001.11:g.201317677A>G	ExAC,gnomAD
PKP1	Q13835	p.Thr319Asn	rs760407315	missense variant	-	NC_000001.11:g.201317681C>A	ExAC,gnomAD
PKP1	Q13835	p.Thr319Ile	rs760407315	missense variant	-	NC_000001.11:g.201317681C>T	ExAC,gnomAD
PKP1	Q13835	p.Thr320Ala	rs1383032907	missense variant	-	NC_000001.11:g.201317683A>G	gnomAD
PKP1	Q13835	p.Asn321Thr	rs926871091	missense variant	-	NC_000001.11:g.201317687A>C	TOPMed
PKP1	Q13835	p.Asn321Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201317688C>G	NCI-TCGA
PKP1	Q13835	p.Lys322Glu	rs753419415	missense variant	-	NC_000001.11:g.201317689A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu323Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201317693T>G	NCI-TCGA
PKP1	Q13835	p.Glu324Asp	rs1166351797	missense variant	-	NC_000001.11:g.201317697G>T	TOPMed
PKP1	Q13835	p.Arg326Trp	rs759152117	missense variant	-	NC_000001.11:g.201317701C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg326Gln	rs764623008	missense variant	-	NC_000001.11:g.201317702G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln328Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.201317707C>T	NCI-TCGA
PKP1	Q13835	p.Gly330Ala	rs758855160	missense variant	-	NC_000001.11:g.201317714G>C	ExAC,gnomAD
PKP1	Q13835	p.Gly330Glu	rs758855160	missense variant	-	NC_000001.11:g.201317714G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly330Val	rs758855160	missense variant	-	NC_000001.11:g.201317714G>T	ExAC,gnomAD
PKP1	Q13835	p.Arg332His	RCV000306163	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201317720G>A	ClinVar
PKP1	Q13835	p.Arg332His	rs781540602	missense variant	-	NC_000001.11:g.201317720G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg332Cys	rs562755351	missense variant	-	NC_000001.11:g.201317719C>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Arg332Pro	rs781540602	missense variant	-	NC_000001.11:g.201317720G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu333Lys	rs1295125354	missense variant	-	NC_000001.11:g.201317722G>A	gnomAD
PKP1	Q13835	p.Glu333Asp	rs1306748849	missense variant	-	NC_000001.11:g.201317724G>C	gnomAD
PKP1	Q13835	p.Ala334Thr	rs1278620132	missense variant	-	NC_000001.11:g.201317725G>A	gnomAD
PKP1	Q13835	p.Leu337Phe	rs1222486877	missense variant	-	NC_000001.11:g.201317734C>T	TOPMed
PKP1	Q13835	p.Arg340Ile	COSM1337816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201317744G>T	NCI-TCGA Cosmic
PKP1	Q13835	p.Thr341Ser	rs909598338	missense variant	-	NC_000001.11:g.201317747C>G	TOPMed,gnomAD
PKP1	Q13835	p.Thr341Ile	rs909598338	missense variant	-	NC_000001.11:g.201317747C>T	TOPMed,gnomAD
PKP1	Q13835	p.Thr341Ala	rs1212802211	missense variant	-	NC_000001.11:g.201317746A>G	gnomAD
PKP1	Q13835	p.Gly342Arg	rs375682551	missense variant	-	NC_000001.11:g.201317749G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn343Lys	rs368398439	missense variant	-	NC_000001.11:g.201317754C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala344Thr	rs770845681	missense variant	-	NC_000001.11:g.201317755G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu345Lys	rs776387347	missense variant	-	NC_000001.11:g.201317758G>A	ExAC,gnomAD
PKP1	Q13835	p.Glu345Asp	rs759089223	missense variant	-	NC_000001.11:g.201317760G>T	ExAC,gnomAD
PKP1	Q13835	p.Thr351Asn	rs1431537809	missense variant	-	NC_000001.11:g.201317777C>A	gnomAD
PKP1	Q13835	p.Thr351Ile	rs1431537809	missense variant	-	NC_000001.11:g.201317777C>T	gnomAD
PKP1	Q13835	p.Leu354Val	rs1365163443	missense variant	-	NC_000001.11:g.201318623C>G	gnomAD
PKP1	Q13835	p.Trp355Ter	rs756371390	stop gained	-	NC_000001.11:g.201318628G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Trp355Cys	rs756371390	missense variant	-	NC_000001.11:g.201318628G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn356Asp	COSM902157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201318629A>G	NCI-TCGA Cosmic
PKP1	Q13835	p.Ser359Phe	rs766566983	missense variant	-	NC_000001.11:g.201318639C>T	ExAC,gnomAD
PKP1	Q13835	p.Thr360Ile	rs754107866	missense variant	-	NC_000001.11:g.201318642C>T	ExAC,gnomAD
PKP1	Q13835	p.Asp361Asn	rs755149186	missense variant	-	NC_000001.11:g.201318644G>A	ExAC,gnomAD
PKP1	Q13835	p.Glu362Lys	rs751571523	missense variant	-	NC_000001.11:g.201318647G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys364Arg	rs1358239313	missense variant	-	NC_000001.11:g.201318654A>G	gnomAD
PKP1	Q13835	p.Glu365Val	rs1220721326	missense variant	-	NC_000001.11:g.201318657A>T	gnomAD
PKP1	Q13835	p.Glu365Lys	rs1408857173	missense variant	-	NC_000001.11:g.201318656G>A	TOPMed
PKP1	Q13835	p.Glu365GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.201318654_201318655insGG	NCI-TCGA
PKP1	Q13835	p.Ile368Thr	rs781048548	missense variant	-	NC_000001.11:g.201318666T>C	ExAC,gnomAD
PKP1	Q13835	p.Ile368Val	rs142169193	missense variant	-	NC_000001.11:g.201318665A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala369Val	rs950879982	missense variant	-	NC_000001.11:g.201318669C>T	gnomAD
PKP1	Q13835	p.Ala369Asp	rs950879982	missense variant	-	NC_000001.11:g.201318669C>A	gnomAD
PKP1	Q13835	p.Asp370Asn	rs180970899	missense variant	-	NC_000001.11:g.201318671G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp370Glu	rs779752881	missense variant	-	NC_000001.11:g.201318673C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala371Thr	rs941239402	missense variant	-	NC_000001.11:g.201318674G>A	TOPMed,gnomAD
PKP1	Q13835	p.Ala371Val	rs1170703539	missense variant	-	NC_000001.11:g.201318675C>T	gnomAD
PKP1	Q13835	p.Leu372Pro	rs1270828236	missense variant	-	NC_000001.11:g.201318678T>C	TOPMed
PKP1	Q13835	p.Pro373Ser	rs1328161469	missense variant	-	NC_000001.11:g.201318680C>T	gnomAD
PKP1	Q13835	p.Pro373Arg	rs1352645485	missense variant	-	NC_000001.11:g.201318681C>G	gnomAD
PKP1	Q13835	p.Asp377His	rs145561852	missense variant	-	NC_000001.11:g.201318692G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp377Tyr	rs145561852	missense variant	-	NC_000001.11:g.201318692G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp377Asn	rs145561852	missense variant	-	NC_000001.11:g.201318692G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg378His	RCV000399466	missense variant	-	NC_000001.11:g.201318696G>A	ClinVar
PKP1	Q13835	p.Arg378His	rs761010595	missense variant	-	NC_000001.11:g.201318696G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg378Cys	rs200975137	missense variant	-	NC_000001.11:g.201318695C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val379Ile	rs528712537	missense variant	-	NC_000001.11:g.201318698G>A	TOPMed,gnomAD
PKP1	Q13835	p.Val379Gly	rs1195568852	missense variant	-	NC_000001.11:g.201318699T>G	TOPMed,gnomAD
PKP1	Q13835	p.Ile381Val	rs1417759145	missense variant	-	NC_000001.11:g.201318704A>G	TOPMed
PKP1	Q13835	p.Pro382Ser	COSM2212245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201318707C>T	NCI-TCGA Cosmic
PKP1	Q13835	p.Phe383Leu	COSM902159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201318712C>A	NCI-TCGA Cosmic
PKP1	Q13835	p.Phe383Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201318710T>G	NCI-TCGA
PKP1	Q13835	p.Ser384Phe	rs1446838396	missense variant	-	NC_000001.11:g.201318714C>T	gnomAD
PKP1	Q13835	p.Trp386Ter	rs1463014197	stop gained	-	NC_000001.11:g.201318720G>A	gnomAD
PKP1	Q13835	p.Trp386Arg	rs754170985	missense variant	-	NC_000001.11:g.201318719T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys387Tyr	rs759774072	missense variant	-	NC_000001.11:g.201318723G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp388Asn	rs141184851	missense variant	-	NC_000001.11:g.201318725G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn390Lys	rs781037825	missense variant	-	NC_000001.11:g.201318733T>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn390Lys	rs781037825	missense variant	-	NC_000001.11:g.201318733T>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg395Leu	rs373286108	missense variant	-	NC_000001.11:g.201318747G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg395Trp	rs369928249	missense variant	-	NC_000001.11:g.201318746C>T	ESP,TOPMed,gnomAD
PKP1	Q13835	p.Arg395Gln	rs373286108	missense variant	-	NC_000001.11:g.201318747G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu396Asp	rs779771060	missense variant	-	NC_000001.11:g.201318751A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp399Asn	rs1337294642	missense variant	-	NC_000001.11:g.201318758G>A	gnomAD
PKP1	Q13835	p.Pro400Ala	rs1404802260	missense variant	-	NC_000001.11:g.201318761C>G	gnomAD
PKP1	Q13835	p.Pro400Leu	rs483352688	missense variant	-	NC_000001.11:g.201318762C>T	-
PKP1	Q13835	p.Pro400Ser	rs1404802260	missense variant	-	NC_000001.11:g.201318761C>T	gnomAD
PKP1	Q13835	p.Pro400Leu	RCV000087165	missense variant	-	NC_000001.11:g.201318762C>T	ClinVar
PKP1	Q13835	p.Glu401Gly	rs768259659	missense variant	-	NC_000001.11:g.201318765A>G	ExAC,gnomAD
PKP1	Q13835	p.Phe403Val	COSM902163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201318770T>G	NCI-TCGA Cosmic
PKP1	Q13835	p.Phe403Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201318772C>A	NCI-TCGA
PKP1	Q13835	p.Phe404Leu	rs200023228	missense variant	-	NC_000001.11:g.201318775C>G	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala406Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201318779G>A	NCI-TCGA
PKP1	Q13835	p.Ala406Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201318780C>T	NCI-TCGA
PKP1	Q13835	p.Ala406Asp	rs747662140	missense variant	-	NC_000001.11:g.201318780C>A	ExAC,gnomAD
PKP1	Q13835	p.Lys412Thr	rs750345278	missense variant	-	NC_000001.11:g.201319818A>C	ExAC,gnomAD
PKP1	Q13835	p.Arg413Gly	rs1183371664	missense variant	-	NC_000001.11:g.201319820A>G	gnomAD
PKP1	Q13835	p.Gly415Asp	rs1626370	missense variant	-	NC_000001.11:g.201319827G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met416Val	rs1452392453	missense variant	-	NC_000001.11:g.201319829A>G	gnomAD
PKP1	Q13835	p.Met416Thr	rs555119427	missense variant	-	NC_000001.11:g.201319830T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg417Trp	rs1367004080	missense variant	-	NC_000001.11:g.201319832C>T	TOPMed,gnomAD
PKP1	Q13835	p.Arg417Gln	rs558439674	missense variant	-	NC_000001.11:g.201319833G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg417Pro	rs558439674	missense variant	-	NC_000001.11:g.201319833G>C	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala421Thr	rs778577256	missense variant	-	NC_000001.11:g.201319844G>A	ExAC,gnomAD
PKP1	Q13835	p.Leu422Phe	rs749251560	missense variant	-	NC_000001.11:g.201319847C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val423Ile	rs757904043	missense variant	-	NC_000001.11:g.201319850G>A	ExAC,gnomAD
PKP1	Q13835	p.Pro424Leu	rs41269939	missense variant	-	NC_000001.11:g.201319854C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Pro424Gln	rs41269939	missense variant	-	NC_000001.11:g.201319854C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln425Ter	rs777156700	stop gained	-	NC_000001.11:g.201319856C>T	ExAC,gnomAD
PKP1	Q13835	p.Gln425Arg	rs746280950	missense variant	-	NC_000001.11:g.201319857A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln425Pro	rs746280950	missense variant	-	NC_000001.11:g.201319857A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln425His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201319858A>T	NCI-TCGA
PKP1	Q13835	p.Ala427Thr	rs770248891	missense variant	-	NC_000001.11:g.201319862G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala427Gly	rs1195386265	missense variant	-	NC_000001.11:g.201319863C>G	TOPMed
PKP1	Q13835	p.Thr428Ile	rs775638130	missense variant	-	NC_000001.11:g.201319866C>T	ExAC,gnomAD
PKP1	Q13835	p.Ser430GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.201319870_201319871insG	NCI-TCGA
PKP1	Q13835	p.Arg431Lys	rs764089216	missense variant	-	NC_000001.11:g.201319875G>A	ExAC,gnomAD
PKP1	Q13835	p.Val432Met	rs147220754	missense variant	-	NC_000001.11:g.201319877G>A	ESP,ExAC,gnomAD
PKP1	Q13835	p.Val432Leu	rs147220754	missense variant	-	NC_000001.11:g.201319877G>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Leu434Val	rs370631788	missense variant	-	NC_000001.11:g.201320271C>G	ESP,ExAC,gnomAD
PKP1	Q13835	p.Leu434Met	RCV000312725	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201320271C>A	ClinVar
PKP1	Q13835	p.Leu434Met	rs370631788	missense variant	-	NC_000001.11:g.201320271C>A	ESP,ExAC,gnomAD
PKP1	Q13835	p.Ser436Leu	rs151203492	missense variant	-	NC_000001.11:g.201320278C>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Ala437Thr	COSM3385611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201320280G>A	NCI-TCGA Cosmic
PKP1	Q13835	p.Ala437Val	rs1262653085	missense variant	-	NC_000001.11:g.201320281C>T	TOPMed
PKP1	Q13835	p.Asp438His	rs141222689	missense variant	-	NC_000001.11:g.201320283G>C	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp438Asn	rs141222689	missense variant	-	NC_000001.11:g.201320283G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp438Glu	rs1307135760	missense variant	-	NC_000001.11:g.201320285T>A	TOPMed
PKP1	Q13835	p.Ala439Val	rs1306697511	missense variant	-	NC_000001.11:g.201320287C>T	gnomAD
PKP1	Q13835	p.Arg441Ser	rs146785756	missense variant	-	NC_000001.11:g.201320292C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg441His	rs569372122	missense variant	-	NC_000001.11:g.201320293G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg441Cys	rs146785756	missense variant	-	NC_000001.11:g.201320292C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln442Arg	rs749713611	missense variant	-	NC_000001.11:g.201320296A>G	ExAC,gnomAD
PKP1	Q13835	p.Gln442Ter	rs1202429288	stop gained	-	NC_000001.11:g.201320295C>T	gnomAD
PKP1	Q13835	p.Thr443Asn	rs1046125389	missense variant	-	NC_000001.11:g.201320299C>A	TOPMed
PKP1	Q13835	p.Met444Thr	rs1486604991	missense variant	-	NC_000001.11:g.201320302T>C	TOPMed,gnomAD
PKP1	Q13835	p.Arg445His	rs376870836	missense variant	-	NC_000001.11:g.201320305G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg445Cys	rs551980188	missense variant	-	NC_000001.11:g.201320304C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr447Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.201320312C>A	NCI-TCGA
PKP1	Q13835	p.Tyr447Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201320310T>G	NCI-TCGA
PKP1	Q13835	p.Ser448Ter	rs1429820969	stop gained	-	NC_000001.11:g.201320314C>A	gnomAD
PKP1	Q13835	p.Gly449Val	rs748356700	missense variant	-	NC_000001.11:g.201320317G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly449Glu	rs748356700	missense variant	-	NC_000001.11:g.201320317G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile451Val	rs772152416	missense variant	-	NC_000001.11:g.201320322A>G	ExAC
PKP1	Q13835	p.Leu454Val	rs1173964822	missense variant	-	NC_000001.11:g.201320331C>G	gnomAD
PKP1	Q13835	p.Met455Ile	rs773209004	missense variant	-	NC_000001.11:g.201320336G>A	ExAC,gnomAD
PKP1	Q13835	p.Met455Thr	rs1247733986	missense variant	-	NC_000001.11:g.201320335T>C	TOPMed
PKP1	Q13835	p.Met455Val	rs1431831173	missense variant	-	NC_000001.11:g.201320334A>G	TOPMed,gnomAD
PKP1	Q13835	p.Tyr457Cys	rs769720924	missense variant	-	NC_000001.11:g.201320341A>G	ExAC,gnomAD
PKP1	Q13835	p.Val458Ile	rs1450179863	missense variant	-	NC_000001.11:g.201320343G>A	TOPMed
PKP1	Q13835	p.Cys461Ser	rs1217670087	missense variant	-	NC_000001.11:g.201320353G>C	TOPMed
PKP1	Q13835	p.Cys461Arg	rs935965202	missense variant	-	NC_000001.11:g.201320352T>C	TOPMed
PKP1	Q13835	p.Val462Ile	rs775266106	missense variant	-	NC_000001.11:g.201320355G>A	ExAC,gnomAD
PKP1	Q13835	p.Ala463Val	rs10920171	missense variant	-	NC_000001.11:g.201320359C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala463Val	RCV000369788	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201320359C>T	ClinVar
PKP1	Q13835	p.Ala464Ser	rs376318223	missense variant	-	NC_000001.11:g.201320361G>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Ala464Val	rs767171812	missense variant	-	NC_000001.11:g.201320362C>T	ExAC,gnomAD
PKP1	Q13835	p.Ala464Pro	rs376318223	missense variant	-	NC_000001.11:g.201320361G>C	ESP,ExAC,gnomAD
PKP1	Q13835	p.Ser465Arg	rs749907021	missense variant	-	NC_000001.11:g.201320364A>C	ExAC,gnomAD
PKP1	Q13835	p.Ser465Cys	rs749907021	missense variant	-	NC_000001.11:g.201320364A>T	ExAC,gnomAD
PKP1	Q13835	p.Ser465Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201320365G>A	NCI-TCGA
PKP1	Q13835	p.Arg466Cys	rs74136386	missense variant	-	NC_000001.11:g.201320367C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg466His	rs137968512	missense variant	-	NC_000001.11:g.201320368G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg466Ser	rs74136386	missense variant	-	NC_000001.11:g.201320367C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys467Arg	RCV000277584	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201320370T>C	ClinVar
PKP1	Q13835	p.Cys467Tyr	rs763384777	missense variant	-	NC_000001.11:g.201320371G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys467Arg	rs78672252	missense variant	-	NC_000001.11:g.201320370T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp468Glu	rs375542525	missense variant	-	NC_000001.11:g.201320375C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp469His	rs772241922	missense variant	-	NC_000001.11:g.201320376G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp469Glu	rs1359491630	missense variant	-	NC_000001.11:g.201320378C>A	TOPMed
PKP1	Q13835	p.Asp469Asn	rs772241922	missense variant	-	NC_000001.11:g.201320376G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys470Arg	rs777852399	missense variant	-	NC_000001.11:g.201320380A>G	ExAC,gnomAD
PKP1	Q13835	p.Val472Leu	rs760110335	missense variant	-	NC_000001.11:g.201321981G>C	ExAC,gnomAD
PKP1	Q13835	p.Val472Met	rs760110335	missense variant	-	NC_000001.11:g.201321981G>A	ExAC,gnomAD
PKP1	Q13835	p.Glu473Ala	rs1272230675	missense variant	-	NC_000001.11:g.201321985A>C	TOPMed,gnomAD
PKP1	Q13835	p.Glu473Gly	rs1272230675	missense variant	-	NC_000001.11:g.201321985A>G	TOPMed,gnomAD
PKP1	Q13835	p.Asn474Ser	rs1340478586	missense variant	-	NC_000001.11:g.201321988A>G	gnomAD
PKP1	Q13835	p.Met476Leu	rs1225375600	missense variant	-	NC_000001.11:g.201321993A>C	TOPMed
PKP1	Q13835	p.Cys477Tyr	rs1218632733	missense variant	-	NC_000001.11:g.201321997G>A	TOPMed,gnomAD
PKP1	Q13835	p.Val478Asp	rs1256681630	missense variant	-	NC_000001.11:g.201322000T>A	gnomAD
PKP1	Q13835	p.His480Asn	rs371151624	missense variant	-	NC_000001.11:g.201322005C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.His480Tyr	rs371151624	missense variant	-	NC_000001.11:g.201322005C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.His480Arg	rs1255743643	missense variant	-	NC_000001.11:g.201322006A>G	gnomAD
PKP1	Q13835	p.Arg485Leu	rs751817941	missense variant	-	NC_000001.11:g.201322021G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg485Cys	rs374293363	missense variant	-	NC_000001.11:g.201322020C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg485Gly	rs374293363	missense variant	-	NC_000001.11:g.201322020C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg485His	rs751817941	missense variant	-	NC_000001.11:g.201322021G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp487Gly	rs1475602903	missense variant	-	NC_000001.11:g.201322027A>G	gnomAD
PKP1	Q13835	p.Ala488Val	rs756235980	missense variant	-	NC_000001.11:g.201322030C>T	ExAC,gnomAD
PKP1	Q13835	p.Ala488Thr	rs745987954	missense variant	-	NC_000001.11:g.201322029G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu489Lys	rs748085816	missense variant	-	NC_000001.11:g.201322032G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val490Ala	rs772008553	missense variant	-	NC_000001.11:g.201322036T>C	ExAC,gnomAD
PKP1	Q13835	p.Pro491His	COSM6123673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201322039C>A	NCI-TCGA Cosmic
PKP1	Q13835	p.Pro491Ser	rs1327429399	missense variant	-	NC_000001.11:g.201322038C>T	gnomAD
PKP1	Q13835	p.Thr492Ile	rs777364969	missense variant	-	NC_000001.11:g.201322042C>T	ExAC,gnomAD
PKP1	Q13835	p.Arg493Cys	rs770440066	missense variant	-	NC_000001.11:g.201322044C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg493His	rs776324521	missense variant	-	NC_000001.11:g.201322045G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg495Cys	rs148461275	missense variant	-	NC_000001.11:g.201322050C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg495His	rs769288054	missense variant	-	NC_000001.11:g.201322051G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg495Ser	rs148461275	missense variant	-	NC_000001.11:g.201322050C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg495Leu	rs769288054	missense variant	-	NC_000001.11:g.201322051G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu497Val	rs1207162563	missense variant	-	NC_000001.11:g.201322056C>G	TOPMed,gnomAD
PKP1	Q13835	p.Glu498Gln	rs557982962	missense variant	-	NC_000001.11:g.201322059G>C	TOPMed,gnomAD
PKP1	Q13835	p.Tyr499His	rs988662998	missense variant	-	NC_000001.11:g.201322062T>C	TOPMed
PKP1	Q13835	p.Ala501Val	rs796851710	missense variant	-	NC_000001.11:g.201322069C>T	TOPMed,gnomAD
PKP1	Q13835	p.Ala501Ser	rs201459638	missense variant	-	NC_000001.11:g.201322068G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala501Thr	rs201459638	missense variant	-	NC_000001.11:g.201322068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg502Cys	rs370789305	missense variant	-	NC_000001.11:g.201322071C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg502His	rs188436125	missense variant	-	NC_000001.11:g.201322072G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg502Leu	rs188436125	missense variant	-	NC_000001.11:g.201322072G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg502Ser	rs370789305	missense variant	-	NC_000001.11:g.201322071C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn503Lys	rs146580475	missense variant	-	NC_000001.11:g.201322076C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn503Asp	rs1366980036	missense variant	-	NC_000001.11:g.201322074A>G	TOPMed
PKP1	Q13835	p.Ala504Thr	rs752689001	missense variant	-	NC_000001.11:g.201322077G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala504Pro	rs752689001	missense variant	-	NC_000001.11:g.201322077G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala504Val	rs201374321	missense variant	-	NC_000001.11:g.201322078C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr505Cys	rs199797105	missense variant	-	NC_000001.11:g.201322081A>G	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr506Ser	rs770728579	missense variant	-	NC_000001.11:g.201322084C>G	ExAC,gnomAD
PKP1	Q13835	p.Glu507Lys	rs745505593	missense variant	-	NC_000001.11:g.201322086G>A	ExAC,gnomAD
PKP1	Q13835	p.Glu507Asp	rs1269805388	missense variant	-	NC_000001.11:g.201322088G>T	TOPMed
PKP1	Q13835	p.Glu507Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.201322086G>T	NCI-TCGA
PKP1	Q13835	p.Lys508Ter	rs1329470812	stop gained	-	NC_000001.11:g.201322089A>T	gnomAD
PKP1	Q13835	p.Ser510Pro	rs1241217137	missense variant	-	NC_000001.11:g.201322095T>C	gnomAD
PKP1	Q13835	p.Thr511Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201322098A>G	NCI-TCGA
PKP1	Q13835	p.Gly512Asp	rs1280395238	missense variant	-	NC_000001.11:g.201322102G>A	gnomAD
PKP1	Q13835	p.Cys513Phe	rs769304351	missense variant	-	NC_000001.11:g.201322105G>T	ExAC,gnomAD
PKP1	Q13835	p.Asn516Ser	rs774911270	missense variant	-	NC_000001.11:g.201322114A>G	ExAC,gnomAD
PKP1	Q13835	p.Ser518Asn	rs763478928	missense variant	-	NC_000001.11:g.201322120G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp519Asn	rs769099812	missense variant	-	NC_000001.11:g.201322122G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys520Arg	rs774895069	missense variant	-	NC_000001.11:g.201322126A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met521Ile	rs561719416	missense variant	-	NC_000001.11:g.201322130G>A	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Met521Ile	rs561719416	missense variant	-	NC_000001.11:g.201322130G>C	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Met522Thr	rs1380543459	missense variant	-	NC_000001.11:g.201322132T>C	gnomAD
PKP1	Q13835	p.Asn523Lys	rs1423476509	missense variant	-	NC_000001.11:g.201323015C>A	gnomAD
PKP1	Q13835	p.Asn523Asp	rs1005514362	missense variant	-	NC_000001.11:g.201323013A>G	TOPMed
PKP1	Q13835	p.Asn524Asp	rs143670888	missense variant	-	NC_000001.11:g.201323016A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp527His	rs1366852333	missense variant	-	NC_000001.11:g.201323025G>C	TOPMed
PKP1	Q13835	p.Pro529His	rs1366886599	missense variant	-	NC_000001.11:g.201323032C>A	gnomAD
PKP1	Q13835	p.Pro529Arg	rs1366886599	missense variant	-	NC_000001.11:g.201323032C>G	gnomAD
PKP1	Q13835	p.Leu530Val	rs775595060	missense variant	-	NC_000001.11:g.201323034C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu530Pro	rs913982316	missense variant	-	NC_000001.11:g.201323035T>C	TOPMed
PKP1	Q13835	p.Pro531Leu	rs998787266	missense variant	-	NC_000001.11:g.201323038C>T	TOPMed
PKP1	Q13835	p.Glu532Lys	rs371952348	missense variant	-	NC_000001.11:g.201323040G>A	ESP,ExAC,gnomAD
PKP1	Q13835	p.Glu533Lys	rs764075127	missense variant	-	NC_000001.11:g.201323043G>A	TOPMed
PKP1	Q13835	p.Glu534Gln	COSM425002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201323046G>C	NCI-TCGA Cosmic
PKP1	Q13835	p.Thr535Ile	rs540459096	missense variant	-	NC_000001.11:g.201323050C>T	1000Genomes,gnomAD
PKP1	Q13835	p.Asn536Thr	COSM4400058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201323053A>C	NCI-TCGA Cosmic
PKP1	Q13835	p.Asn536Tyr	rs1339675923	missense variant	-	NC_000001.11:g.201323052A>T	gnomAD
PKP1	Q13835	p.Asn536Ser	rs751444082	missense variant	-	NC_000001.11:g.201323053A>G	ExAC,gnomAD
PKP1	Q13835	p.Asn536Lys	rs1288395101	missense variant	-	NC_000001.11:g.201323054C>A	TOPMed,gnomAD
PKP1	Q13835	p.Pro537Ser	rs755963789	missense variant	-	NC_000001.11:g.201323055C>T	ExAC,gnomAD
PKP1	Q13835	p.Lys538Asn	rs766109517	missense variant	-	NC_000001.11:g.201323060G>T	ExAC,gnomAD
PKP1	Q13835	p.Ser540Arg	rs150488138	missense variant	-	NC_000001.11:g.201323066C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser540Asn	rs946700138	missense variant	-	NC_000001.11:g.201323065G>A	gnomAD
PKP1	Q13835	p.Gly541Ser	rs149193673	missense variant	-	NC_000001.11:g.201323067G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly541Val	rs1194792897	missense variant	-	NC_000001.11:g.201323068G>T	gnomAD
PKP1	Q13835	p.Trp542Arg	rs778309621	missense variant	-	NC_000001.11:g.201323070T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Trp542Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.201323072G>A	NCI-TCGA
PKP1	Q13835	p.Trp542Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201323070T>G	NCI-TCGA
PKP1	Q13835	p.Leu543Phe	rs757816257	missense variant	-	NC_000001.11:g.201323075G>T	ExAC,gnomAD
PKP1	Q13835	p.Leu543Val	rs752302085	missense variant	-	NC_000001.11:g.201323073T>G	ExAC,gnomAD
PKP1	Q13835	p.His545Arg	rs1223145087	missense variant	-	NC_000001.11:g.201323080A>G	TOPMed
PKP1	Q13835	p.His545Tyr	rs778488784	missense variant	-	NC_000001.11:g.201323079C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala548Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201323088G>A	NCI-TCGA
PKP1	Q13835	p.Arg550Cys	RCV000262373	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201323094C>T	ClinVar
PKP1	Q13835	p.Arg550His	rs143362477	missense variant	-	NC_000001.11:g.201323095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg550Cys	rs747503125	missense variant	-	NC_000001.11:g.201323094C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu553Pro	rs1336027537	missense variant	-	NC_000001.11:g.201323104T>C	TOPMed
PKP1	Q13835	p.Asn554Ser	rs1359644208	missense variant	-	NC_000001.11:g.201323107A>G	TOPMed,gnomAD
PKP1	Q13835	p.Met556Val	rs1398149786	missense variant	-	NC_000001.11:g.201323112A>G	gnomAD
PKP1	Q13835	p.Met556Thr	rs770005020	missense variant	-	NC_000001.11:g.201323113T>C	ExAC,gnomAD
PKP1	Q13835	p.Gly557Asp	rs775550365	missense variant	-	NC_000001.11:g.201323116G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys558Arg	rs768711820	missense variant	-	NC_000001.11:g.201323119A>G	ExAC,gnomAD
PKP1	Q13835	p.Lys558Glu	rs763130822	missense variant	-	NC_000001.11:g.201323118A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys558Asn	rs1303161730	missense variant	-	NC_000001.11:g.201323120G>C	TOPMed
PKP1	Q13835	p.Asp562Asn	rs978369182	missense variant	-	NC_000001.11:g.201323130G>A	TOPMed,gnomAD
PKP1	Q13835	p.Asp562Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201323131A>G	NCI-TCGA
PKP1	Q13835	p.Asp562Val	rs901040424	missense variant	-	NC_000001.11:g.201323131A>T	TOPMed
PKP1	Q13835	p.Ala563Thr	rs933818145	missense variant	-	NC_000001.11:g.201323133G>A	-
PKP1	Q13835	p.Thr564Ala	COSM4026921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201323136A>G	NCI-TCGA Cosmic
PKP1	Q13835	p.Leu565Gln	rs760543372	missense variant	-	NC_000001.11:g.201323140T>A	ExAC,gnomAD
PKP1	Q13835	p.Glu566Asp	rs1487494170	missense variant	-	NC_000001.11:g.201323144G>T	TOPMed,gnomAD
PKP1	Q13835	p.Glu566Lys	rs1285839949	missense variant	-	NC_000001.11:g.201323142G>A	gnomAD
PKP1	Q13835	p.Cys568Phe	COSM6123669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201323149G>T	NCI-TCGA Cosmic
PKP1	Q13835	p.Ala569Val	rs760493882	missense variant	-	NC_000001.11:g.201323152C>T	ExAC,gnomAD
PKP1	Q13835	p.Gly570Val	rs202228705	missense variant	-	NC_000001.11:g.201323155G>T	TOPMed
PKP1	Q13835	p.Ala571Thr	rs753621238	missense variant	-	NC_000001.11:g.201323157G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly580Arg	rs200486077	missense variant	-	NC_000001.11:g.201323184G>C	gnomAD
PKP1	Q13835	p.Gly580Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201323184G>T	NCI-TCGA
PKP1	Q13835	p.Gly580Glu	rs1363541582	missense variant	-	NC_000001.11:g.201323185G>A	TOPMed
PKP1	Q13835	p.Gly580Arg	rs200486077	missense variant	-	NC_000001.11:g.201323184G>A	gnomAD
PKP1	Q13835	p.Ser584Arg	rs1227150434	missense variant	-	NC_000001.11:g.201324436T>G	gnomAD
PKP1	Q13835	p.Ser584Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201324435G>C	NCI-TCGA
PKP1	Q13835	p.Gly585Asp	rs1357449504	missense variant	-	NC_000001.11:g.201324438G>A	TOPMed
PKP1	Q13835	p.Leu589Phe	rs752406228	missense variant	-	NC_000001.11:g.201324451G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile590Thr	rs202232462	missense variant	-	NC_000001.11:g.201324453T>C	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Glu594Gly	rs751062007	missense variant	-	NC_000001.11:g.201324465A>G	ExAC,gnomAD
PKP1	Q13835	p.Lys595Arg	rs756802087	missense variant	-	NC_000001.11:g.201324468A>G	ExAC,gnomAD
PKP1	Q13835	p.Gly596Ala	rs768107145	missense variant	-	NC_000001.11:g.201324471G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly596Val	rs768107145	missense variant	-	NC_000001.11:g.201324471G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Pro598Ser	rs1180068321	missense variant	-	NC_000001.11:g.201324476C>T	gnomAD
PKP1	Q13835	p.Ala601Thr	rs756518562	missense variant	-	NC_000001.11:g.201324485G>A	ExAC,gnomAD
PKP1	Q13835	p.Ala601Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201324486C>T	NCI-TCGA
PKP1	Q13835	p.Ala601Ser	rs756518562	missense variant	-	NC_000001.11:g.201324485G>T	ExAC,gnomAD
PKP1	Q13835	p.Arg602His	rs142096411	missense variant	-	NC_000001.11:g.201324489G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg602Cys	rs377328987	missense variant	-	NC_000001.11:g.201324488C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu603Ile	rs755148151	missense variant	-	NC_000001.11:g.201324491C>A	ExAC,gnomAD
PKP1	Q13835	p.Gly607Asp	rs748268397	missense variant	-	NC_000001.11:g.201324504G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser609Cys	rs1005266334	missense variant	-	NC_000001.11:g.201324510C>G	TOPMed,gnomAD
PKP1	Q13835	p.Ser609Phe	rs1005266334	missense variant	-	NC_000001.11:g.201324510C>T	TOPMed,gnomAD
PKP1	Q13835	p.Arg613Gln	rs776686849	missense variant	-	NC_000001.11:g.201324522G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg613Trp	rs138678921	missense variant	-	NC_000001.11:g.201324521C>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Gly615Arg	rs769635879	missense variant	-	NC_000001.11:g.201324527G>A	ExAC
PKP1	Q13835	p.Ala616Gly	rs775106393	missense variant	-	NC_000001.11:g.201324531C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala616Asp	rs775106393	missense variant	-	NC_000001.11:g.201324531C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser617Phe	rs1226887996	missense variant	-	NC_000001.11:g.201324534C>T	TOPMed
PKP1	Q13835	p.Leu618Ile	rs762713136	missense variant	-	NC_000001.11:g.201324536C>A	ExAC,gnomAD
PKP1	Q13835	p.Leu619Val	rs763884182	missense variant	-	NC_000001.11:g.201324539C>G	ExAC,gnomAD
PKP1	Q13835	p.Met622Ile	rs1265259087	missense variant	-	NC_000001.11:g.201324550G>A	gnomAD
PKP1	Q13835	p.Arg624His	rs766882821	missense variant	-	NC_000001.11:g.201324555G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg624Cys	rs761473194	missense variant	-	NC_000001.11:g.201324554C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.His625Asp	COSM6060559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201324557C>G	NCI-TCGA Cosmic
PKP1	Q13835	p.His629Arg	rs1438446484	missense variant	-	NC_000001.11:g.201324570A>G	TOPMed
PKP1	Q13835	p.Met632Leu	rs1350255074	missense variant	-	NC_000001.11:g.201324578A>T	TOPMed
PKP1	Q13835	p.Met632Ile	rs532890960	missense variant	-	NC_000001.11:g.201324580G>A	1000Genomes,gnomAD
PKP1	Q13835	p.Gly633Trp	rs756541920	missense variant	-	NC_000001.11:g.201324581G>T	ExAC,gnomAD
PKP1	Q13835	p.Gly633Glu	COSM1668358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201324941G>A	NCI-TCGA Cosmic
PKP1	Q13835	p.Asn634Tyr	rs772552178	missense variant	-	NC_000001.11:g.201324943A>T	ExAC,gnomAD
PKP1	Q13835	p.Gln635Ter	rs1131691647	stop gained	-	NC_000001.11:g.201324946C>T	-
PKP1	Q13835	p.Gln635Ter	RCV000493473	nonsense	-	NC_000001.11:g.201324946C>T	ClinVar
PKP1	Q13835	p.Val636Leu	rs760214615	missense variant	-	NC_000001.11:g.201324949G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val636Leu	rs760214615	missense variant	-	NC_000001.11:g.201324949G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Phe637Ser	rs954973948	missense variant	-	NC_000001.11:g.201324953T>C	TOPMed
PKP1	Q13835	p.Pro638Leu	rs754339313	missense variant	-	NC_000001.11:g.201324956C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu639Lys	rs1180178780	missense variant	-	NC_000001.11:g.201324958G>A	TOPMed,gnomAD
PKP1	Q13835	p.Val640Met	rs765530477	missense variant	-	NC_000001.11:g.201324961G>A	ExAC,gnomAD
PKP1	Q13835	p.Val640Ala	rs747386296	missense variant	-	NC_000001.11:g.201324962T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr641Pro	rs758509306	missense variant	-	NC_000001.11:g.201324964A>C	ExAC
PKP1	Q13835	p.Thr641Ile	rs777930312	missense variant	-	NC_000001.11:g.201324965C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg642Gly	rs757325454	missense variant	-	NC_000001.11:g.201324967A>G	ExAC
PKP1	Q13835	p.Arg642Ser	rs749222532	missense variant	-	NC_000001.11:g.201324969G>C	ExAC,gnomAD
PKP1	Q13835	p.Arg642Met	rs780204854	missense variant	-	NC_000001.11:g.201324968G>T	ExAC
PKP1	Q13835	p.Leu643Pro	rs768578417	missense variant	-	NC_000001.11:g.201324971T>C	ExAC
PKP1	Q13835	p.Leu644Phe	rs1163150196	missense variant	-	NC_000001.11:g.201324973C>T	TOPMed,gnomAD
PKP1	Q13835	p.Leu644Pro	rs778813790	missense variant	-	NC_000001.11:g.201324974T>C	ExAC,gnomAD
PKP1	Q13835	p.Thr645Ile	rs1252488590	missense variant	-	NC_000001.11:g.201324977C>T	TOPMed
PKP1	Q13835	p.Thr645Pro	rs747829507	missense variant	-	NC_000001.11:g.201324976A>C	ExAC,gnomAD
PKP1	Q13835	p.Gly649Ser	rs373741646	missense variant	-	NC_000001.11:g.201324988G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn653Thr	rs200677178	missense variant	-	NC_000001.11:g.201325001A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser654Pro	rs1342038596	missense variant	-	NC_000001.11:g.201325003T>C	TOPMed,gnomAD
PKP1	Q13835	p.Glu655Lys	rs777137706	missense variant	-	NC_000001.11:g.201325006G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp656Val	rs759967131	missense variant	-	NC_000001.11:g.201325010A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile657Ser	rs973653685	missense variant	-	NC_000001.11:g.201325013T>G	TOPMed,gnomAD
PKP1	Q13835	p.Ser660Leu	rs1457087583	missense variant	-	NC_000001.11:g.201325022C>T	gnomAD
PKP1	Q13835	p.Ala661Ser	rs763353426	missense variant	-	NC_000001.11:g.201325024G>T	ExAC,gnomAD
PKP1	Q13835	p.Val665Ala	rs1461169842	missense variant	-	NC_000001.11:g.201325037T>C	TOPMed
PKP1	Q13835	p.Val665Leu	rs1467255665	missense variant	-	NC_000001.11:g.201325036G>T	gnomAD
PKP1	Q13835	p.Arg666Lys	RCV000376879	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325040G>A	ClinVar
PKP1	Q13835	p.Arg666Lys	rs757610907	missense variant	-	NC_000001.11:g.201325040G>A	ExAC,gnomAD
PKP1	Q13835	p.Asn667Lys	RCV000284164	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325044C>A	ClinVar
PKP1	Q13835	p.Asn667Lys	rs781360485	missense variant	-	NC_000001.11:g.201325044C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn667Lys	rs781360485	missense variant	-	NC_000001.11:g.201325044C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met669Thr	rs200736537	missense variant	-	NC_000001.11:g.201325049T>C	1000Genomes
PKP1	Q13835	p.Ser671Leu	rs200484616	missense variant	-	NC_000001.11:g.201325055C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Pro673Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201325060C>T	NCI-TCGA
PKP1	Q13835	p.Gln674Leu	COSM6123667	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201325064A>T	NCI-TCGA Cosmic
PKP1	Q13835	p.Lys677Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201325074G>T	NCI-TCGA
PKP1	Q13835	p.Gln678Pro	rs771897498	missense variant	-	NC_000001.11:g.201325076A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln678Leu	rs771897498	missense variant	-	NC_000001.11:g.201325076A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr679Phe	rs777349855	missense variant	-	NC_000001.11:g.201325079A>T	ExAC,gnomAD
PKP1	Q13835	p.Tyr679Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201325079A>C	NCI-TCGA
PKP1	Q13835	p.Phe680Ser	rs1467836925	missense variant	-	NC_000001.11:g.201325082T>C	TOPMed
PKP1	Q13835	p.Ser681Phe	rs746616460	missense variant	-	NC_000001.11:g.201325085C>T	ExAC,gnomAD
PKP1	Q13835	p.Ser682Asn	rs770433466	missense variant	-	NC_000001.11:g.201325088G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser682Thr	rs770433466	missense variant	-	NC_000001.11:g.201325088G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met684Thr	rs1329241993	missense variant	-	NC_000001.11:g.201325094T>C	TOPMed
PKP1	Q13835	p.Ile688ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.201325105_201325111ATCATCA>-	NCI-TCGA
PKP1	Q13835	p.Asn690His	rs1483799747	missense variant	-	NC_000001.11:g.201325111A>C	gnomAD
PKP1	Q13835	p.Arg693Ter	rs775941545	stop gained	-	NC_000001.11:g.201325120C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg693Gln	rs139909774	missense variant	-	NC_000001.11:g.201325121G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser695Asn	rs764502250	missense variant	-	NC_000001.11:g.201325127G>A	ExAC,gnomAD
PKP1	Q13835	p.Ala696Thr	COSM6060557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201325755G>A	NCI-TCGA Cosmic
PKP1	Q13835	p.Pro698Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201325762C>T	NCI-TCGA
PKP1	Q13835	p.Lys699Met	rs146324118	missense variant	-	NC_000001.11:g.201325765A>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala701Thr	rs553668177	missense variant	-	NC_000001.11:g.201325770G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala701Ser	rs553668177	missense variant	-	NC_000001.11:g.201325770G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu702Asp	rs752583350	missense variant	-	NC_000001.11:g.201325775A>C	ExAC,gnomAD
PKP1	Q13835	p.Ala703Thr	rs1296476154	missense variant	-	NC_000001.11:g.201325776G>A	gnomAD
PKP1	Q13835	p.Arg705Trp	RCV000341479	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325782C>T	ClinVar
PKP1	Q13835	p.Arg705Gln	rs573352897	missense variant	-	NC_000001.11:g.201325783G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg705Trp	rs61818256	missense variant	-	NC_000001.11:g.201325782C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg705Leu	rs573352897	missense variant	-	NC_000001.11:g.201325783G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu706Pro	COSM4919084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.201325786T>C	NCI-TCGA Cosmic
PKP1	Q13835	p.Leu706Arg	rs780885568	missense variant	-	NC_000001.11:g.201325786T>G	ExAC,gnomAD
PKP1	Q13835	p.Ser709Pro	rs376796997	missense variant	-	NC_000001.11:g.201325794T>C	ESP,TOPMed
PKP1	Q13835	p.Ser709Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201325795C>A	NCI-TCGA
PKP1	Q13835	p.Met711Ile	rs1240215952	missense variant	-	NC_000001.11:g.201325802G>A	TOPMed,gnomAD
PKP1	Q13835	p.Trp712Leu	rs1460695967	missense variant	-	NC_000001.11:g.201325804G>T	TOPMed
PKP1	Q13835	p.Ser713Phe	rs927887275	missense variant	-	NC_000001.11:g.201325807C>T	TOPMed
PKP1	Q13835	p.Ser714Gly	rs1441316536	missense variant	-	NC_000001.11:g.201325809A>G	gnomAD
PKP1	Q13835	p.Leu717Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201325819T>G	NCI-TCGA
PKP1	Q13835	p.Gln718Arg	rs1406966092	missense variant	-	NC_000001.11:g.201325822A>G	gnomAD
PKP1	Q13835	p.Gly719Asp	rs201628992	missense variant	-	NC_000001.11:g.201325825G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly719Cys	rs142615612	missense variant	-	NC_000001.11:g.201325824G>T	1000Genomes
PKP1	Q13835	p.Gly719Val	rs201628992	missense variant	-	NC_000001.11:g.201325825G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly719Asp	RCV000379711	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325825G>A	ClinVar
PKP1	Q13835	p.Val720Ile	rs769257959	missense variant	-	NC_000001.11:g.201325827G>A	ExAC,gnomAD
PKP1	Q13835	p.Gln724Lys	rs753430088	missense variant	-	NC_000001.11:g.201328762C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly725Ala	rs754442587	missense variant	-	NC_000001.11:g.201328766G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp727Gly	rs1382339978	missense variant	-	NC_000001.11:g.201328772A>G	TOPMed
PKP1	Q13835	p.Asp727Asn	rs201180970	missense variant	-	NC_000001.11:g.201328771G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg728Ser	rs778245527	missense variant	-	NC_000001.11:g.201328776G>C	ExAC,gnomAD
PKP1	Q13835	p.Arg728Lys	rs537966263	missense variant	-	NC_000001.11:g.201328775G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg728Thr	rs537966263	missense variant	-	NC_000001.11:g.201328775G>C	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn729Tyr	rs747259738	missense variant	-	NC_000001.11:g.201328777A>T	ExAC,gnomAD
PKP1	Q13835	p.Asn729Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201328778A>G	NCI-TCGA
PKP1	Q13835	p.Met730Thr	rs776683618	missense variant	-	NC_000001.11:g.201328781T>C	ExAC,gnomAD
PKP1	Q13835	p.Met730Ile	rs1449100844	missense variant	-	NC_000001.11:g.201328782G>C	TOPMed
PKP1	Q13835	p.Met730Val	rs771231352	missense variant	-	NC_000001.11:g.201328780A>G	ExAC,gnomAD
PKP1	Q13835	p.Gly732Glu	rs551141144	missense variant	-	NC_000001.11:g.201328787G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr733Ile	rs1335340111	missense variant	-	NC_000001.11:g.201328790C>T	gnomAD
PKP1	Q13835	p.Ala735Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.201328795G>A	NCI-TCGA
PKP1	Q13835	p.Gly736Glu	rs1020364365	missense variant	-	NC_000001.11:g.201328799G>A	TOPMed
PKP1	Q13835	p.Gly736Arg	rs774284273	missense variant	-	NC_000001.11:g.201328798G>A	ExAC,gnomAD
PKP1	Q13835	p.Ala737Thr	rs763900804	missense variant	-	NC_000001.11:g.201328801G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn738Ser	rs571427409	missense variant	-	NC_000001.11:g.201328805A>G	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Asn738Ile	rs571427409	missense variant	-	NC_000001.11:g.201328805A>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Ser739ArgTerSerUnk	rs769059123	stop gained	-	NC_000001.11:g.201328808_201328809insGTGAAGTA	ExAC
PKP1	Q13835	p.Asn742Thr	rs766123431	missense variant	-	NC_000001.11:g.201328817A>C	ExAC,gnomAD
PKP1	Q13835	p.Phe743Leu	rs1347326771	missense variant	-	NC_000001.11:g.201328819T>C	gnomAD
PKP1	Q13835	p.Phe743Ser	rs753419598	missense variant	-	NC_000001.11:g.201328820T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr744Ile	rs754535258	missense variant	-	NC_000001.11:g.201328823C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg746Ter	rs531445602	stop gained	-	NC_000001.11:g.201328828C>T	ExAC,gnomAD
PKP1	Q13835	p.Arg746Gln	rs1488332347	missense variant	-	NC_000001.11:g.201328829G>A	TOPMed,gnomAD
PKP1	Q13835	p.Arg746Pro	rs1488332347	missense variant	-	NC_000001.11:g.201328829G>C	TOPMed,gnomAD
PKP1	Q13835	p.Ter748Gln	rs1384227595	stop lost	-	NC_000001.11:g.201328834T>C	TOPMed
PKP1	Q13835	p.Asn2Ser	rs1249234066	missense variant	-	NC_000001.11:g.201283707A>G	gnomAD
PKP1	Q13835	p.Ser4Leu	rs1475958808	missense variant	-	NC_000001.11:g.201283713C>T	TOPMed,gnomAD
PKP1	Q13835	p.Ser4Trp	rs1475958808	missense variant	-	NC_000001.11:g.201283713C>G	TOPMed,gnomAD
PKP1	Q13835	p.Pro5Leu	rs1417514113	missense variant	-	NC_000001.11:g.201283716C>T	gnomAD
PKP1	Q13835	p.Pro5Ser	rs1189119963	missense variant	-	NC_000001.11:g.201283715C>T	gnomAD
PKP1	Q13835	p.Ala11Ser	rs986378706	missense variant	-	NC_000001.11:g.201283733G>T	TOPMed,gnomAD
PKP1	Q13835	p.Ala11Val	rs910380119	missense variant	-	NC_000001.11:g.201283734C>T	TOPMed,gnomAD
PKP1	Q13835	p.Phe15Val	rs765686962	missense variant	-	NC_000001.11:g.201283745T>G	ExAC,gnomAD
PKP1	Q13835	p.Asp17Asn	rs1339584228	missense variant	-	NC_000001.11:g.201283751G>A	gnomAD
PKP1	Q13835	p.Asp19Gly	rs1339972669	missense variant	-	NC_000001.11:g.201283758A>G	gnomAD
PKP1	Q13835	p.Asp19Asn	rs1271921485	missense variant	-	NC_000001.11:g.201283757G>A	gnomAD
PKP1	Q13835	p.Asn20Ser	rs199604952	missense variant	-	NC_000001.11:g.201283761A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu23Ser	rs1201125089	missense variant	-	NC_000001.11:g.201283770T>C	gnomAD
PKP1	Q13835	p.Ala24Ser	rs1486454180	missense variant	-	NC_000001.11:g.201283772G>T	gnomAD
PKP1	Q13835	p.Leu25Trp	rs1211069504	missense variant	-	NC_000001.11:g.201283776T>G	gnomAD
PKP1	Q13835	p.Pro26Leu	rs377481646	missense variant	-	NC_000001.11:g.201283779C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp28Asn	rs1195751281	missense variant	-	NC_000001.11:g.201283784G>A	gnomAD
PKP1	Q13835	p.Asp28Glu	rs751815067	missense variant	-	NC_000001.11:g.201283786C>A	ExAC,gnomAD
PKP1	Q13835	p.Gln29Arg	rs975952428	missense variant	-	NC_000001.11:g.201283788A>G	TOPMed
PKP1	Q13835	p.Gln29Ter	rs1475350964	stop gained	-	NC_000001.11:g.201283787C>T	gnomAD
PKP1	Q13835	p.Lys30Thr	rs757475801	missense variant	-	NC_000001.11:g.201283791A>C	ExAC,gnomAD
PKP1	Q13835	p.Lys30Asn	rs1322769789	missense variant	-	NC_000001.11:g.201283792G>T	TOPMed
PKP1	Q13835	p.Met31Val	rs370900946	missense variant	-	NC_000001.11:g.201283793A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr33Ile	rs1435578626	missense variant	-	NC_000001.11:g.201283800C>T	gnomAD
PKP1	Q13835	p.Gly34Val	rs749292645	missense variant	-	NC_000001.11:g.201283803G>T	ExAC
PKP1	Q13835	p.Thr35Met	rs780267593	missense variant	-	NC_000001.11:g.201283806C>T	TOPMed,gnomAD
PKP1	Q13835	p.Gly37Arg	rs1400323054	missense variant	-	NC_000001.11:g.201283811G>C	gnomAD
PKP1	Q13835	p.Arg38Gly	rs754822585	missense variant	-	NC_000001.11:g.201283814A>G	ExAC,gnomAD
PKP1	Q13835	p.Arg38Lys	rs1320012247	missense variant	-	NC_000001.11:g.201283815G>A	gnomAD
PKP1	Q13835	p.Arg38Ser	rs375084708	missense variant	-	NC_000001.11:g.201283816G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln39Glu	rs747869491	missense variant	-	NC_000001.11:g.201283817C>G	ExAC,gnomAD
PKP1	Q13835	p.Glu43Lys	rs1390932890	missense variant	-	NC_000001.11:g.201283829G>A	TOPMed
PKP1	Q13835	p.Met46Leu	rs369806569	missense variant	-	NC_000001.11:g.201283838A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met46Val	rs369806569	missense variant	-	NC_000001.11:g.201283838A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met46Leu	RCV000266980	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201283838A>T	ClinVar
PKP1	Q13835	p.Met47Val	rs1482053129	missense variant	-	NC_000001.11:g.201283841A>G	gnomAD
PKP1	Q13835	p.Arg51Trp	rs181972441	missense variant	-	NC_000001.11:g.201283853C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln52Lys	rs200433412	missense variant	-	NC_000001.11:g.201283856C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln52Arg	rs1187154159	missense variant	-	NC_000001.11:g.201283857A>G	gnomAD
PKP1	Q13835	p.Gln52His	rs1397427322	missense variant	-	NC_000001.11:g.201283858G>T	TOPMed,gnomAD
PKP1	Q13835	p.Lys53Glu	rs1422306414	missense variant	-	NC_000001.11:g.201283859A>G	TOPMed
PKP1	Q13835	p.Lys53Arg	rs199797410	missense variant	-	NC_000001.11:g.201283860A>G	1000Genomes,ExAC
PKP1	Q13835	p.Ser54Cys	rs765625993	missense variant	-	NC_000001.11:g.201283863C>G	ExAC,gnomAD
PKP1	Q13835	p.Ser56Cys	rs776004636	missense variant	-	NC_000001.11:g.201283869C>G	ExAC,gnomAD
PKP1	Q13835	p.Ser57Pro	rs1376177104	missense variant	-	NC_000001.11:g.201283871T>C	gnomAD
PKP1	Q13835	p.Gln58His	rs560818766	missense variant	-	NC_000001.11:g.201283876G>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Ser60Phe	rs751867536	missense variant	-	NC_000001.11:g.201283881C>T	ExAC,gnomAD
PKP1	Q13835	p.Ser60Pro	rs764546449	missense variant	-	NC_000001.11:g.201283880T>C	ExAC,gnomAD
PKP1	Q13835	p.Ser63Arg	rs1441056275	missense variant	-	NC_000001.11:g.201283891C>A	gnomAD
PKP1	Q13835	p.His64Arg	rs1310097346	missense variant	-	NC_000001.11:g.201283893A>G	gnomAD
PKP1	Q13835	p.His64Tyr	rs529709320	missense variant	-	NC_000001.11:g.201283892C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn66Ser	rs1261682384	missense variant	-	NC_000001.11:g.201283899A>G	TOPMed,gnomAD
PKP1	Q13835	p.Gly68Ser	rs748066233	missense variant	-	NC_000001.11:g.201283904G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly68Asp	rs1407567667	missense variant	-	NC_000001.11:g.201293942G>A	TOPMed,gnomAD
PKP1	Q13835	p.Met70Val	rs777570553	missense variant	-	NC_000001.11:g.201293947A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr71Cys	rs751318467	missense variant	-	NC_000001.11:g.201293951A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr71Phe	rs751318467	missense variant	-	NC_000001.11:g.201293951A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp72Glu	rs1228107718	missense variant	-	NC_000001.11:g.201293955T>A	gnomAD
PKP1	Q13835	p.Ala75Ser	rs780653634	missense variant	-	NC_000001.11:g.201293962G>T	ExAC,gnomAD
PKP1	Q13835	p.Ala75Val	rs1205339613	missense variant	-	NC_000001.11:g.201293963C>T	TOPMed,gnomAD
PKP1	Q13835	p.Asp76Gly	rs1388581264	missense variant	-	NC_000001.11:g.201293966A>G	TOPMed
PKP1	Q13835	p.Asn77Ser	rs150847034	missense variant	-	NC_000001.11:g.201293969A>G	ESP,ExAC,gnomAD
PKP1	Q13835	p.Asn79His	rs1258471543	missense variant	-	NC_000001.11:g.201293974A>C	gnomAD
PKP1	Q13835	p.Gly81Arg	RCV000326818	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201293980G>A	ClinVar
PKP1	Q13835	p.Gly81Glu	rs769244881	missense variant	-	NC_000001.11:g.201293981G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly81Arg	rs147328328	missense variant	-	NC_000001.11:g.201293980G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr82Ala	rs1055003862	missense variant	-	NC_000001.11:g.201293983A>G	gnomAD
PKP1	Q13835	p.Thr82Asn	rs774859542	missense variant	-	NC_000001.11:g.201293984C>A	ExAC,gnomAD
PKP1	Q13835	p.Ser84Arg	rs762024333	missense variant	-	NC_000001.11:g.201293991C>G	ExAC,gnomAD
PKP1	Q13835	p.Arg85Lys	rs1413079616	missense variant	-	NC_000001.11:g.201293993G>A	TOPMed
PKP1	Q13835	p.Ser87Asn	rs894879135	missense variant	-	NC_000001.11:g.201293999G>A	gnomAD
PKP1	Q13835	p.Tyr88Cys	RCV000362830	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201294002A>G	ClinVar
PKP1	Q13835	p.Tyr88Ter	rs760921095	stop gained	-	NC_000001.11:g.201294003C>G	ExAC,gnomAD
PKP1	Q13835	p.Tyr88Cys	rs141060367	missense variant	-	NC_000001.11:g.201294002A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr89Phe	rs1364739266	missense variant	-	NC_000001.11:g.201294005A>T	gnomAD
PKP1	Q13835	p.Lys91Arg	rs146997188	missense variant	-	NC_000001.11:g.201294011A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Phe92Ile	rs571591332	missense variant	-	NC_000001.11:g.201294013T>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly97Ser	rs1236580317	missense variant	-	NC_000001.11:g.201294028G>A	gnomAD
PKP1	Q13835	p.Gly97Asp	rs762914218	missense variant	-	NC_000001.11:g.201294029G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly97Ala	rs762914218	missense variant	-	NC_000001.11:g.201294029G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser98Leu	rs1209186439	missense variant	-	NC_000001.11:g.201294032C>T	gnomAD
PKP1	Q13835	p.Trp99Cys	rs767309700	missense variant	-	NC_000001.11:g.201294036G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly100Arg	rs750089705	missense variant	-	NC_000001.11:g.201294037G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly100Val	rs1247343030	missense variant	-	NC_000001.11:g.201294038G>T	gnomAD
PKP1	Q13835	p.Tyr101His	rs1447182660	missense variant	-	NC_000001.11:g.201294040T>C	gnomAD
PKP1	Q13835	p.Pro102Leu	rs367643085	missense variant	-	NC_000001.11:g.201294044C>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Asn105Ser	rs755831958	missense variant	-	NC_000001.11:g.201313173A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly106Val	rs1218704370	missense variant	-	NC_000001.11:g.201313176G>T	gnomAD
PKP1	Q13835	p.Gly106Arg	rs766071375	missense variant	-	NC_000001.11:g.201313175G>A	ExAC,gnomAD
PKP1	Q13835	p.Arg110Trp	rs754600520	missense variant	-	NC_000001.11:g.201313187C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg110Gln	rs150161614	missense variant	-	NC_000001.11:g.201313188G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu111Lys	rs1278298829	missense variant	-	NC_000001.11:g.201313190G>A	TOPMed
PKP1	Q13835	p.Pro112Ser	rs567375958	missense variant	-	NC_000001.11:g.201313193C>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Arg115Lys	rs147062963	missense variant	-	NC_000001.11:g.201313203G>A	ESP,TOPMed,gnomAD
PKP1	Q13835	p.Arg116His	rs34626929	missense variant	-	NC_000001.11:g.201313206G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg116Cys	RCV000273008	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313205C>T	ClinVar
PKP1	Q13835	p.Arg116His	RCV000328092	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313206G>A	ClinVar
PKP1	Q13835	p.Arg116Cys	rs536458815	missense variant	-	NC_000001.11:g.201313205C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg116Gly	rs536458815	missense variant	-	NC_000001.11:g.201313205C>G	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg116Leu	rs34626929	missense variant	-	NC_000001.11:g.201313206G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser121Cys	rs1054931349	missense variant	-	NC_000001.11:g.201313220A>T	TOPMed,gnomAD
PKP1	Q13835	p.Ser121Asn	rs1409369692	missense variant	-	NC_000001.11:g.201313221G>A	gnomAD
PKP1	Q13835	p.Met123Leu	rs776898540	missense variant	-	NC_000001.11:g.201313226A>T	ExAC,gnomAD
PKP1	Q13835	p.Met123Ile	rs746089095	missense variant	-	NC_000001.11:g.201313228G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn125Lys	rs769907783	missense variant	-	NC_000001.11:g.201313234C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Trp126Cys	RCV000387306	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313237G>C	ClinVar
PKP1	Q13835	p.Trp126Ter	rs886045808	stop gained	-	NC_000001.11:g.201313237G>A	TOPMed,gnomAD
PKP1	Q13835	p.Trp126Cys	rs886045808	missense variant	-	NC_000001.11:g.201313237G>C	TOPMed,gnomAD
PKP1	Q13835	p.Arg128Leu	rs775588543	missense variant	-	NC_000001.11:g.201313242G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg128Gln	rs775588543	missense variant	-	NC_000001.11:g.201313242G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg128Trp	rs1276102421	missense variant	-	NC_000001.11:g.201313241C>T	TOPMed,gnomAD
PKP1	Q13835	p.His129Arg	rs369088645	missense variant	-	NC_000001.11:g.201313245A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.His129Asn	rs1249139986	missense variant	-	NC_000001.11:g.201313244C>A	gnomAD
PKP1	Q13835	p.Tyr130His	rs570209532	missense variant	-	NC_000001.11:g.201313247T>C	1000Genomes,gnomAD
PKP1	Q13835	p.Tyr130Cys	rs371948391	missense variant	-	NC_000001.11:g.201313248A>G	ESP,gnomAD
PKP1	Q13835	p.Pro131Thr	rs767417910	missense variant	-	NC_000001.11:g.201313250C>A	ExAC,gnomAD
PKP1	Q13835	p.Pro131Leu	rs1169732010	missense variant	-	NC_000001.11:g.201313251C>T	gnomAD
PKP1	Q13835	p.Arg132Trp	rs772895613	missense variant	-	NC_000001.11:g.201313253C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg132Gln	rs376443293	missense variant	-	NC_000001.11:g.201313254G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg132Leu	rs376443293	missense variant	-	NC_000001.11:g.201313254G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly133Arg	rs538996300	missense variant	-	NC_000001.11:g.201313256G>C	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Gly133Asp	rs1334506835	missense variant	-	NC_000001.11:g.201313257G>A	gnomAD
PKP1	Q13835	p.Ser134Arg	rs1339834507	missense variant	-	NC_000001.11:g.201313261C>A	gnomAD
PKP1	Q13835	p.Cys135Ser	rs1242432172	missense variant	-	NC_000001.11:g.201313263G>C	gnomAD
PKP1	Q13835	p.Asn136Asp	rs1299189237	missense variant	-	NC_000001.11:g.201313265A>G	gnomAD
PKP1	Q13835	p.Asn136Thr	rs753586154	missense variant	-	NC_000001.11:g.201313266A>C	ExAC,gnomAD
PKP1	Q13835	p.Thr137Ile	rs1247703903	missense variant	-	NC_000001.11:g.201313269C>T	gnomAD
PKP1	Q13835	p.Thr138Ile	rs764675865	missense variant	-	NC_000001.11:g.201313272C>T	ExAC,gnomAD
PKP1	Q13835	p.Gly139Asp	rs1464210981	missense variant	-	NC_000001.11:g.201313275G>A	TOPMed
PKP1	Q13835	p.Gly139Ser	rs200423351	missense variant	-	NC_000001.11:g.201313274G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly139Cys	rs200423351	missense variant	-	NC_000001.11:g.201313274G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala140Thr	RCV000293537	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313277G>A	ClinVar
PKP1	Q13835	p.Ala140Pro	rs77893096	missense variant	-	NC_000001.11:g.201313277G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala140Thr	rs77893096	missense variant	-	NC_000001.11:g.201313277G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala140Ser	rs77893096	missense variant	-	NC_000001.11:g.201313277G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly141Asp	rs1196031895	missense variant	-	NC_000001.11:g.201313281G>A	gnomAD
PKP1	Q13835	p.Asp143Asn	rs746108244	missense variant	-	NC_000001.11:g.201313286G>A	ExAC,gnomAD
PKP1	Q13835	p.Ile144Met	rs139245064	missense variant	-	NC_000001.11:g.201313291C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile144Leu	rs770013396	missense variant	-	NC_000001.11:g.201313289A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys145Tyr	rs768604582	missense variant	-	NC_000001.11:g.201313293G>A	ExAC,gnomAD
PKP1	Q13835	p.Cys145Gly	rs749331370	missense variant	-	NC_000001.11:g.201313292T>G	ExAC,gnomAD
PKP1	Q13835	p.Met147Val	rs1315615003	missense variant	-	NC_000001.11:g.201313298A>G	TOPMed
PKP1	Q13835	p.Met147Ile	rs1394053395	missense variant	-	NC_000001.11:g.201313300G>C	gnomAD
PKP1	Q13835	p.Gln148Lys	rs1322541781	missense variant	-	NC_000001.11:g.201313301C>A	gnomAD
PKP1	Q13835	p.Gln148Glu	rs1322541781	missense variant	-	NC_000001.11:g.201313301C>G	gnomAD
PKP1	Q13835	p.Lys149Asn	rs1433748015	missense variant	-	NC_000001.11:g.201313306A>C	gnomAD
PKP1	Q13835	p.Lys151Ter	rs1266735745	stop gained	-	NC_000001.11:g.201313310A>T	TOPMed
PKP1	Q13835	p.Lys151Asn	rs149029415	missense variant	-	NC_000001.11:g.201313312G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala152Val	rs776519471	missense variant	-	NC_000001.11:g.201313314C>T	ExAC,gnomAD
PKP1	Q13835	p.Ser153Asn	rs1255039917	missense variant	-	NC_000001.11:g.201313317G>A	gnomAD
PKP1	Q13835	p.Arg154Leu	rs762587116	missense variant	-	NC_000001.11:g.201313320G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg154His	rs762587116	missense variant	-	NC_000001.11:g.201313320G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg154Cys	rs151214763	missense variant	-	NC_000001.11:g.201313319C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu156Lys	rs1186787442	missense variant	-	NC_000001.11:g.201313325G>A	gnomAD
PKP1	Q13835	p.Pro157Ser	rs1433993818	missense variant	-	NC_000001.11:g.201313328C>T	gnomAD
PKP1	Q13835	p.Asp158Tyr	rs764983461	missense variant	-	NC_000001.11:g.201313331G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp158Gly	rs1464389205	missense variant	-	NC_000001.11:g.201313332A>G	gnomAD
PKP1	Q13835	p.Asp158Asn	rs764983461	missense variant	-	NC_000001.11:g.201313331G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu159Ile	rs367893541	missense variant	-	NC_000001.11:g.201313334C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr160Cys	rs1456581726	missense variant	-	NC_000001.11:g.201313338A>G	gnomAD
PKP1	Q13835	p.Cys161Phe	rs34704938	missense variant	-	NC_000001.11:g.201313341G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys161Gly	rs1317977405	missense variant	-	NC_000001.11:g.201313340T>G	gnomAD
PKP1	Q13835	p.Cys161Tyr	RCV000332114	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313341G>A	ClinVar
PKP1	Q13835	p.Cys161Tyr	rs34704938	missense variant	-	NC_000001.11:g.201313341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp162Gly	rs1366789268	missense variant	-	NC_000001.11:g.201313344A>G	TOPMed
PKP1	Q13835	p.Pro163Leu	rs779112141	missense variant	-	NC_000001.11:g.201313347C>T	ExAC,gnomAD
PKP1	Q13835	p.Arg164Trp	rs576171894	missense variant	-	NC_000001.11:g.201313349C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg164Gln	rs143927870	missense variant	-	NC_000001.11:g.201313350G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly165Arg	rs776572497	missense variant	-	NC_000001.11:g.201313352G>C	ExAC,gnomAD
PKP1	Q13835	p.Gly165Asp	rs544993083	missense variant	-	NC_000001.11:g.201313353G>A	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Gly165Ser	rs776572497	missense variant	-	NC_000001.11:g.201313352G>A	ExAC,gnomAD
PKP1	Q13835	p.Thr166Asn	rs1207320070	missense variant	-	NC_000001.11:g.201313356C>A	gnomAD
PKP1	Q13835	p.Leu167Pro	rs1488884276	missense variant	-	NC_000001.11:g.201313359T>C	gnomAD
PKP1	Q13835	p.Arg168His	rs200647803	missense variant	-	NC_000001.11:g.201313362G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg168Leu	rs200647803	missense variant	-	NC_000001.11:g.201313362G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg168Cys	rs527683180	missense variant	-	NC_000001.11:g.201313361C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg168Ser	rs527683180	missense variant	-	NC_000001.11:g.201313361C>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly170Ser	rs983984315	missense variant	-	NC_000001.11:g.201313367G>A	gnomAD
PKP1	Q13835	p.Thr171Met	rs1472136920	missense variant	-	NC_000001.11:g.201313371C>T	TOPMed,gnomAD
PKP1	Q13835	p.Gly173Ala	rs932061675	missense variant	-	NC_000001.11:g.201313377G>C	TOPMed,gnomAD
PKP1	Q13835	p.Gly173Ser	rs1458014783	missense variant	-	NC_000001.11:g.201313376G>A	gnomAD
PKP1	Q13835	p.Gly173Asp	rs932061675	missense variant	-	NC_000001.11:g.201313377G>A	TOPMed,gnomAD
PKP1	Q13835	p.Ser174Asn	rs1052377399	missense variant	-	NC_000001.11:g.201313380G>A	TOPMed,gnomAD
PKP1	Q13835	p.Lys175Arg	rs756567842	missense variant	-	NC_000001.11:g.201313383A>G	ExAC,gnomAD
PKP1	Q13835	p.Lys175Glu	rs750915178	missense variant	-	NC_000001.11:g.201313382A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly176Asp	rs755107849	missense variant	-	NC_000001.11:g.201313386G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly176Cys	rs754137436	missense variant	-	NC_000001.11:g.201313385G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys178Thr	rs1311567348	missense variant	-	NC_000001.11:g.201313392A>C	gnomAD
PKP1	Q13835	p.Thr179Ser	rs1322823530	missense variant	-	NC_000001.11:g.201313395C>G	gnomAD
PKP1	Q13835	p.Asn182His	rs148156855	missense variant	-	NC_000001.11:g.201313403A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn182Thr	rs1484139238	missense variant	-	NC_000001.11:g.201313404A>C	gnomAD
PKP1	Q13835	p.Arg183Leu	rs781340038	missense variant	-	NC_000001.11:g.201313407G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg183Ser	rs1057162135	missense variant	-	NC_000001.11:g.201313406C>A	TOPMed,gnomAD
PKP1	Q13835	p.Arg183His	rs781340038	missense variant	-	NC_000001.11:g.201313407G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg183Cys	rs1057162135	missense variant	-	NC_000001.11:g.201313406C>T	TOPMed,gnomAD
PKP1	Q13835	p.Tyr184Cys	rs745792455	missense variant	-	NC_000001.11:g.201313410A>G	ExAC,gnomAD
PKP1	Q13835	p.Ser185Asn	rs769672961	missense variant	-	NC_000001.11:g.201313413G>A	ExAC,gnomAD
PKP1	Q13835	p.Ser188Arg	rs775128783	missense variant	-	NC_000001.11:g.201313423C>G	ExAC,gnomAD
PKP1	Q13835	p.Ser188Asn	rs1424282636	missense variant	-	NC_000001.11:g.201313422G>A	gnomAD
PKP1	Q13835	p.Cys190Phe	rs1459930976	missense variant	-	NC_000001.11:g.201313428G>T	TOPMed,gnomAD
PKP1	Q13835	p.Cys190Trp	rs1382790039	missense variant	-	NC_000001.11:g.201313429C>G	gnomAD
PKP1	Q13835	p.Gly192Ser	rs1431089307	missense variant	-	NC_000001.11:g.201313433G>A	gnomAD
PKP1	Q13835	p.Gln193His	rs34769677	missense variant	-	NC_000001.11:g.201313438G>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Ala195Thr	rs1408434722	missense variant	-	NC_000001.11:g.201313442G>A	TOPMed,gnomAD
PKP1	Q13835	p.Ile196Val	RCV000388950	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313445A>G	ClinVar
PKP1	Q13835	p.Ile196Val	rs35507614	missense variant	-	NC_000001.11:g.201313445A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile196Val	rs35507614	missense variant	-	NC_000001.11:g.201313445A>G	UniProt,dbSNP
PKP1	Q13835	p.Ile196Val	VAR_033528	missense variant	-	NC_000001.11:g.201313445A>G	UniProt
PKP1	Q13835	p.Lys197Asn	rs767009885	missense variant	-	NC_000001.11:g.201313450G>C	ExAC,gnomAD
PKP1	Q13835	p.Lys197Asn	rs767009885	missense variant	-	NC_000001.11:g.201313450G>T	ExAC,gnomAD
PKP1	Q13835	p.Lys197Arg	rs1380539394	missense variant	-	NC_000001.11:g.201313449A>G	gnomAD
PKP1	Q13835	p.Lys198Thr	rs773749001	missense variant	-	NC_000001.11:g.201313452A>C	ExAC,gnomAD
PKP1	Q13835	p.Cys199Arg	rs1344498221	missense variant	-	NC_000001.11:g.201313454T>C	gnomAD
PKP1	Q13835	p.Pro200Ser	rs761063340	missense variant	-	NC_000001.11:g.201313457C>T	ExAC,gnomAD
PKP1	Q13835	p.Arg202Gly	rs144063217	missense variant	-	NC_000001.11:g.201313463C>G	ESP,ExAC,gnomAD
PKP1	Q13835	p.Arg202His	rs78314242	missense variant	-	NC_000001.11:g.201313464G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg202Cys	rs144063217	missense variant	-	NC_000001.11:g.201313463C>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Arg202His	RCV000278105	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201313464G>A	ClinVar
PKP1	Q13835	p.Pro203Leu	rs1202220475	missense variant	-	NC_000001.11:g.201313467C>T	TOPMed,gnomAD
PKP1	Q13835	p.Pro203Ser	rs371876880	missense variant	-	NC_000001.11:g.201313466C>T	ESP,TOPMed
PKP1	Q13835	p.Ala207Val	rs1181267093	missense variant	-	NC_000001.11:g.201313479C>T	gnomAD
PKP1	Q13835	p.Ser208Phe	rs751008697	missense variant	-	NC_000001.11:g.201313482C>T	TOPMed,gnomAD
PKP1	Q13835	p.Asp211Asn	rs745870553	missense variant	-	NC_000001.11:g.201313490G>A	ExAC
PKP1	Q13835	p.Pro212Thr	rs755962486	missense variant	-	NC_000001.11:g.201313493C>A	ExAC,gnomAD
PKP1	Q13835	p.Pro216Leu	rs779899110	missense variant	-	NC_000001.11:g.201313506C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Pro216Gln	rs779899110	missense variant	-	NC_000001.11:g.201313506C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile218Val	rs1335367450	missense variant	-	NC_000001.11:g.201313511A>G	gnomAD
PKP1	Q13835	p.Lys222Met	rs1297579127	missense variant	-	NC_000001.11:g.201313524A>T	TOPMed
PKP1	Q13835	p.Lys222Arg	rs1297579127	missense variant	-	NC_000001.11:g.201313524A>G	TOPMed
PKP1	Q13835	p.Ser225Pro	rs774055337	missense variant	-	NC_000001.11:g.201313532T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Phe226Val	rs747765447	missense variant	-	NC_000001.11:g.201313535T>G	ExAC,gnomAD
PKP1	Q13835	p.Gly227Arg	rs373022722	missense variant	-	NC_000001.11:g.201313538G>C	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly227Ser	rs373022722	missense variant	-	NC_000001.11:g.201313538G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser229Cys	rs1465251366	missense variant	-	NC_000001.11:g.201313545C>G	TOPMed
PKP1	Q13835	p.Ser229Ala	rs761277402	missense variant	-	NC_000001.11:g.201313544T>G	ExAC,gnomAD
PKP1	Q13835	p.Arg230Thr	rs1221095599	missense variant	-	NC_000001.11:g.201313548G>C	gnomAD
PKP1	Q13835	p.Ala231Thr	rs1312625224	missense variant	-	NC_000001.11:g.201313550G>A	gnomAD
PKP1	Q13835	p.Ser233Phe	rs1261229733	missense variant	-	NC_000001.11:g.201313557C>T	gnomAD
PKP1	Q13835	p.Lys234Asn	rs763269762	missense variant	-	NC_000001.11:g.201316553G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys234Arg	rs1466158867	missense variant	-	NC_000001.11:g.201313560A>G	gnomAD
PKP1	Q13835	p.Lys234Asn	rs763269762	missense variant	-	NC_000001.11:g.201316553G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser237Asn	rs1313335960	missense variant	-	NC_000001.11:g.201316561G>A	TOPMed
PKP1	Q13835	p.Ser237Gly	rs751791220	missense variant	-	NC_000001.11:g.201316560A>G	ExAC,gnomAD
PKP1	Q13835	p.Glu241Lys	rs575798229	missense variant	-	NC_000001.11:g.201316572G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu241Asp	rs753766542	missense variant	-	NC_000001.11:g.201316574G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys242Tyr	rs544439085	missense variant	-	NC_000001.11:g.201316576G>A	1000Genomes,ExAC,TOPMed
PKP1	Q13835	p.Ser243Arg	rs375931616	missense variant	-	NC_000001.11:g.201316580T>A	ESP,ExAC,gnomAD
PKP1	Q13835	p.Ser243Asn	rs1219867452	missense variant	-	NC_000001.11:g.201316579G>A	gnomAD
PKP1	Q13835	p.Leu245Met	rs7514146	missense variant	-	NC_000001.11:g.201316584C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr246Ser	rs758060401	missense variant	-	NC_000001.11:g.201316587A>T	ExAC,gnomAD
PKP1	Q13835	p.Pro248Thr	rs1362589233	missense variant	-	NC_000001.11:g.201316593C>A	gnomAD
PKP1	Q13835	p.Ala250Ser	rs777350201	missense variant	-	NC_000001.11:g.201316599G>T	ExAC,gnomAD
PKP1	Q13835	p.Ala250Thr	rs777350201	missense variant	-	NC_000001.11:g.201316599G>A	ExAC,gnomAD
PKP1	Q13835	p.Val251Leu	rs770390936	missense variant	-	NC_000001.11:g.201316602G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val251Met	rs770390936	missense variant	-	NC_000001.11:g.201316602G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser255Arg	rs1371379371	missense variant	-	NC_000001.11:g.201316616C>A	gnomAD
PKP1	Q13835	p.Ser255Thr	rs1170766058	missense variant	-	NC_000001.11:g.201316615G>C	gnomAD
PKP1	Q13835	p.Ser255Gly	rs746403585	missense variant	-	NC_000001.11:g.201316614A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu259Lys	rs770387949	missense variant	-	NC_000001.11:g.201316626G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys260Met	rs142131454	missense variant	-	NC_000001.11:g.201316630A>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys260Asn	rs1779297	missense variant	-	NC_000001.11:g.201316631G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr261His	rs528045800	missense variant	-	NC_000001.11:g.201316632T>C	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Ala263Thr	rs762072549	missense variant	-	NC_000001.11:g.201316638G>A	ExAC,gnomAD
PKP1	Q13835	p.Ala263Val	rs767514466	missense variant	-	NC_000001.11:g.201316639C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala263Asp	rs767514466	missense variant	-	NC_000001.11:g.201316639C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile264Thr	rs369999615	missense variant	-	NC_000001.11:g.201316642T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile264Val	rs773235619	missense variant	-	NC_000001.11:g.201316641A>G	ExAC,gnomAD
PKP1	Q13835	p.Gly265Arg	rs1183143451	missense variant	-	NC_000001.11:g.201316644G>A	TOPMed
PKP1	Q13835	p.Ala266Asp	rs752617382	missense variant	-	NC_000001.11:g.201316648C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala266Thr	rs765102835	missense variant	-	NC_000001.11:g.201316647G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr267Asn	rs758196282	missense variant	-	NC_000001.11:g.201316650T>A	ExAC,gnomAD
PKP1	Q13835	p.Gln270Ter	rs763920731	stop gained	-	NC_000001.11:g.201316659C>T	ExAC,gnomAD
PKP1	Q13835	p.Thr272Ile	rs1167122922	missense variant	-	NC_000001.11:g.201316666C>T	TOPMed,gnomAD
PKP1	Q13835	p.Thr272Ala	rs1429275552	missense variant	-	NC_000001.11:g.201316665A>G	TOPMed,gnomAD
PKP1	Q13835	p.Cys273Arg	rs756889590	missense variant	-	NC_000001.11:g.201316668T>C	ExAC,gnomAD
PKP1	Q13835	p.Cys273Tyr	rs970789193	missense variant	-	NC_000001.11:g.201316669G>A	gnomAD
PKP1	Q13835	p.Phe274Leu	RCV000281650	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201316673C>G	ClinVar
PKP1	Q13835	p.Phe274Leu	rs886045810	missense variant	-	NC_000001.11:g.201316673C>G	-
PKP1	Q13835	p.Gln275Leu	rs780602512	missense variant	-	NC_000001.11:g.201316675A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp276Val	rs1449856757	missense variant	-	NC_000001.11:g.201316678A>T	gnomAD
PKP1	Q13835	p.Asp276Tyr	rs191741262	missense variant	-	NC_000001.11:g.201316677G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys280Thr	rs1317412375	missense variant	-	NC_000001.11:g.201316690A>C	TOPMed
PKP1	Q13835	p.Gln281Ter	RCV000585663	nonsense	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201316692C>T	ClinVar
PKP1	Q13835	p.Gln281Ter	rs1553275192	stop gained	-	NC_000001.11:g.201316692C>T	-
PKP1	Q13835	p.Gln282Arg	rs755668320	missense variant	-	NC_000001.11:g.201316696A>G	ExAC,gnomAD
PKP1	Q13835	p.Gln282Glu	rs1299124137	missense variant	-	NC_000001.11:g.201316695C>G	gnomAD
PKP1	Q13835	p.Tyr284Cys	rs983761036	missense variant	-	NC_000001.11:g.201317576A>G	TOPMed,gnomAD
PKP1	Q13835	p.Gln285Arg	rs755470231	missense variant	-	NC_000001.11:g.201317579A>G	ExAC,gnomAD
PKP1	Q13835	p.Leu286Arg	rs1278309769	missense variant	-	NC_000001.11:g.201317582T>G	TOPMed
PKP1	Q13835	p.Gly288Asp	rs1286574662	missense variant	-	NC_000001.11:g.201317588G>A	gnomAD
PKP1	Q13835	p.Ile289Asn	rs779150281	missense variant	-	NC_000001.11:g.201317591T>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys290Phe	rs1386934403	missense variant	-	NC_000001.11:g.201317594G>T	gnomAD
PKP1	Q13835	p.Val293Met	rs1344655333	missense variant	-	NC_000001.11:g.201317602G>A	TOPMed
PKP1	Q13835	p.Leu295Val	rs150414253	missense variant	-	NC_000001.11:g.201317608C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu295Ile	rs150414253	missense variant	-	NC_000001.11:g.201317608C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu296Phe	rs564123317	missense variant	-	NC_000001.11:g.201317611C>T	1000Genomes,ExAC
PKP1	Q13835	p.Arg297Cys	rs368718493	missense variant	-	NC_000001.11:g.201317614C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg297Gly	rs368718493	missense variant	-	NC_000001.11:g.201317614C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg297His	rs771050304	missense variant	-	NC_000001.11:g.201317615G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Pro299Ser	rs757337621	missense variant	-	NC_000001.11:g.201317620C>T	ExAC,gnomAD
PKP1	Q13835	p.Asn300Thr	RCV000341126	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201317624A>C	ClinVar
PKP1	Q13835	p.Asn300Ser	rs552414505	missense variant	-	NC_000001.11:g.201317624A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn300Thr	rs552414505	missense variant	-	NC_000001.11:g.201317624A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn302Ile	rs1222099337	missense variant	-	NC_000001.11:g.201317630A>T	TOPMed,gnomAD
PKP1	Q13835	p.Asn302Lys	rs190053583	missense variant	-	NC_000001.11:g.201317631C>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn302Ser	rs1222099337	missense variant	-	NC_000001.11:g.201317630A>G	TOPMed,gnomAD
PKP1	Q13835	p.Val303Ile	rs143092948	missense variant	-	NC_000001.11:g.201317632G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val303Phe	rs143092948	missense variant	-	NC_000001.11:g.201317632G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln304Arg	rs1416707756	missense variant	-	NC_000001.11:g.201317636A>G	TOPMed
PKP1	Q13835	p.Gln304Ter	rs121918354	stop gained	-	NC_000001.11:g.201317635C>T	gnomAD
PKP1	Q13835	p.Gln304Ter	RCV000008041	nonsense	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201317635C>T	ClinVar
PKP1	Q13835	p.Gln305Leu	rs760352453	missense variant	-	NC_000001.11:g.201317639A>T	ExAC,gnomAD
PKP1	Q13835	p.Ala306Ser	rs1418362759	missense variant	-	NC_000001.11:g.201317641G>T	gnomAD
PKP1	Q13835	p.Ala306Asp	rs1029639917	missense variant	-	NC_000001.11:g.201317642C>A	TOPMed,gnomAD
PKP1	Q13835	p.Ala307Thr	rs142112484	missense variant	-	NC_000001.11:g.201317644G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala307Val	rs536481505	missense variant	-	NC_000001.11:g.201317645C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala307Ser	rs142112484	missense variant	-	NC_000001.11:g.201317644G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala308Pro	rs529199336	missense variant	-	NC_000001.11:g.201317647G>C	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly309Trp	rs1308970654	missense variant	-	NC_000001.11:g.201317650G>T	gnomAD
PKP1	Q13835	p.Gly309Glu	rs778090662	missense variant	-	NC_000001.11:g.201317651G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala310Thr	rs747256472	missense variant	-	NC_000001.11:g.201317653G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala310Gly	rs771105522	missense variant	-	NC_000001.11:g.201317654C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu311Pro	rs745907195	missense variant	-	NC_000001.11:g.201317657T>C	ExAC,gnomAD
PKP1	Q13835	p.Arg312Cys	rs1412701858	missense variant	-	NC_000001.11:g.201317659C>T	TOPMed
PKP1	Q13835	p.Arg312His	rs769754162	missense variant	-	NC_000001.11:g.201317660G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn313Asp	rs774382764	missense variant	-	NC_000001.11:g.201317662A>G	ExAC,gnomAD
PKP1	Q13835	p.Val315Gly	rs1251620348	missense variant	-	NC_000001.11:g.201317669T>G	gnomAD
PKP1	Q13835	p.Arg317Gly	rs1006759897	missense variant	-	NC_000001.11:g.201317674A>G	gnomAD
PKP1	Q13835	p.Ser318Gly	rs773099218	missense variant	-	NC_000001.11:g.201317677A>G	ExAC,gnomAD
PKP1	Q13835	p.Thr319Asn	rs760407315	missense variant	-	NC_000001.11:g.201317681C>A	ExAC,gnomAD
PKP1	Q13835	p.Thr319Ile	rs760407315	missense variant	-	NC_000001.11:g.201317681C>T	ExAC,gnomAD
PKP1	Q13835	p.Thr320Ala	rs1383032907	missense variant	-	NC_000001.11:g.201317683A>G	gnomAD
PKP1	Q13835	p.Asn321Thr	rs926871091	missense variant	-	NC_000001.11:g.201317687A>C	TOPMed
PKP1	Q13835	p.Lys322Glu	rs753419415	missense variant	-	NC_000001.11:g.201317689A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu324Asp	rs1166351797	missense variant	-	NC_000001.11:g.201317697G>T	TOPMed
PKP1	Q13835	p.Arg326Trp	rs759152117	missense variant	-	NC_000001.11:g.201317701C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg326Gln	rs764623008	missense variant	-	NC_000001.11:g.201317702G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly330Ala	rs758855160	missense variant	-	NC_000001.11:g.201317714G>C	ExAC,gnomAD
PKP1	Q13835	p.Gly330Glu	rs758855160	missense variant	-	NC_000001.11:g.201317714G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly330Val	rs758855160	missense variant	-	NC_000001.11:g.201317714G>T	ExAC,gnomAD
PKP1	Q13835	p.Arg332His	RCV000306163	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201317720G>A	ClinVar
PKP1	Q13835	p.Arg332His	rs781540602	missense variant	-	NC_000001.11:g.201317720G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg332Cys	rs562755351	missense variant	-	NC_000001.11:g.201317719C>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Arg332Pro	rs781540602	missense variant	-	NC_000001.11:g.201317720G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu333Lys	rs1295125354	missense variant	-	NC_000001.11:g.201317722G>A	gnomAD
PKP1	Q13835	p.Glu333Asp	rs1306748849	missense variant	-	NC_000001.11:g.201317724G>C	gnomAD
PKP1	Q13835	p.Ala334Thr	rs1278620132	missense variant	-	NC_000001.11:g.201317725G>A	gnomAD
PKP1	Q13835	p.Leu337Phe	rs1222486877	missense variant	-	NC_000001.11:g.201317734C>T	TOPMed
PKP1	Q13835	p.Thr341Ser	rs909598338	missense variant	-	NC_000001.11:g.201317747C>G	TOPMed,gnomAD
PKP1	Q13835	p.Thr341Ile	rs909598338	missense variant	-	NC_000001.11:g.201317747C>T	TOPMed,gnomAD
PKP1	Q13835	p.Thr341Ala	rs1212802211	missense variant	-	NC_000001.11:g.201317746A>G	gnomAD
PKP1	Q13835	p.Gly342Arg	rs375682551	missense variant	-	NC_000001.11:g.201317749G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn343Lys	rs368398439	missense variant	-	NC_000001.11:g.201317754C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala344Thr	rs770845681	missense variant	-	NC_000001.11:g.201317755G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu345Lys	rs776387347	missense variant	-	NC_000001.11:g.201317758G>A	ExAC,gnomAD
PKP1	Q13835	p.Glu345Asp	rs759089223	missense variant	-	NC_000001.11:g.201317760G>T	ExAC,gnomAD
PKP1	Q13835	p.Thr351Asn	rs1431537809	missense variant	-	NC_000001.11:g.201317777C>A	gnomAD
PKP1	Q13835	p.Thr351Ile	rs1431537809	missense variant	-	NC_000001.11:g.201317777C>T	gnomAD
PKP1	Q13835	p.Leu354Val	rs1365163443	missense variant	-	NC_000001.11:g.201318623C>G	gnomAD
PKP1	Q13835	p.Trp355Ter	rs756371390	stop gained	-	NC_000001.11:g.201318628G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Trp355Cys	rs756371390	missense variant	-	NC_000001.11:g.201318628G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser359Phe	rs766566983	missense variant	-	NC_000001.11:g.201318639C>T	ExAC,gnomAD
PKP1	Q13835	p.Thr360Ile	rs754107866	missense variant	-	NC_000001.11:g.201318642C>T	ExAC,gnomAD
PKP1	Q13835	p.Asp361Asn	rs755149186	missense variant	-	NC_000001.11:g.201318644G>A	ExAC,gnomAD
PKP1	Q13835	p.Glu362Lys	rs751571523	missense variant	-	NC_000001.11:g.201318647G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys364Arg	rs1358239313	missense variant	-	NC_000001.11:g.201318654A>G	gnomAD
PKP1	Q13835	p.Glu365Val	rs1220721326	missense variant	-	NC_000001.11:g.201318657A>T	gnomAD
PKP1	Q13835	p.Glu365Lys	rs1408857173	missense variant	-	NC_000001.11:g.201318656G>A	TOPMed
PKP1	Q13835	p.Ile368Thr	rs781048548	missense variant	-	NC_000001.11:g.201318666T>C	ExAC,gnomAD
PKP1	Q13835	p.Ile368Val	rs142169193	missense variant	-	NC_000001.11:g.201318665A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala369Val	rs950879982	missense variant	-	NC_000001.11:g.201318669C>T	gnomAD
PKP1	Q13835	p.Ala369Asp	rs950879982	missense variant	-	NC_000001.11:g.201318669C>A	gnomAD
PKP1	Q13835	p.Asp370Asn	rs180970899	missense variant	-	NC_000001.11:g.201318671G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp370Glu	rs779752881	missense variant	-	NC_000001.11:g.201318673C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala371Thr	rs941239402	missense variant	-	NC_000001.11:g.201318674G>A	TOPMed,gnomAD
PKP1	Q13835	p.Ala371Val	rs1170703539	missense variant	-	NC_000001.11:g.201318675C>T	gnomAD
PKP1	Q13835	p.Leu372Pro	rs1270828236	missense variant	-	NC_000001.11:g.201318678T>C	TOPMed
PKP1	Q13835	p.Pro373Ser	rs1328161469	missense variant	-	NC_000001.11:g.201318680C>T	gnomAD
PKP1	Q13835	p.Pro373Arg	rs1352645485	missense variant	-	NC_000001.11:g.201318681C>G	gnomAD
PKP1	Q13835	p.Asp377His	rs145561852	missense variant	-	NC_000001.11:g.201318692G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp377Tyr	rs145561852	missense variant	-	NC_000001.11:g.201318692G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp377Asn	rs145561852	missense variant	-	NC_000001.11:g.201318692G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg378His	RCV000399466	missense variant	-	NC_000001.11:g.201318696G>A	ClinVar
PKP1	Q13835	p.Arg378Cys	rs200975137	missense variant	-	NC_000001.11:g.201318695C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg378His	rs761010595	missense variant	-	NC_000001.11:g.201318696G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val379Ile	rs528712537	missense variant	-	NC_000001.11:g.201318698G>A	TOPMed,gnomAD
PKP1	Q13835	p.Val379Gly	rs1195568852	missense variant	-	NC_000001.11:g.201318699T>G	TOPMed,gnomAD
PKP1	Q13835	p.Ile381Val	rs1417759145	missense variant	-	NC_000001.11:g.201318704A>G	TOPMed
PKP1	Q13835	p.Ser384Phe	rs1446838396	missense variant	-	NC_000001.11:g.201318714C>T	gnomAD
PKP1	Q13835	p.Trp386Ter	rs1463014197	stop gained	-	NC_000001.11:g.201318720G>A	gnomAD
PKP1	Q13835	p.Trp386Arg	rs754170985	missense variant	-	NC_000001.11:g.201318719T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys387Tyr	rs759774072	missense variant	-	NC_000001.11:g.201318723G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp388Asn	rs141184851	missense variant	-	NC_000001.11:g.201318725G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn390Lys	rs781037825	missense variant	-	NC_000001.11:g.201318733T>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn390Lys	rs781037825	missense variant	-	NC_000001.11:g.201318733T>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg395Leu	rs373286108	missense variant	-	NC_000001.11:g.201318747G>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg395Trp	rs369928249	missense variant	-	NC_000001.11:g.201318746C>T	ESP,TOPMed,gnomAD
PKP1	Q13835	p.Arg395Gln	rs373286108	missense variant	-	NC_000001.11:g.201318747G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu396Asp	rs779771060	missense variant	-	NC_000001.11:g.201318751A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp399Asn	rs1337294642	missense variant	-	NC_000001.11:g.201318758G>A	gnomAD
PKP1	Q13835	p.Pro400Ala	rs1404802260	missense variant	-	NC_000001.11:g.201318761C>G	gnomAD
PKP1	Q13835	p.Pro400Leu	rs483352688	missense variant	-	NC_000001.11:g.201318762C>T	-
PKP1	Q13835	p.Pro400Ser	rs1404802260	missense variant	-	NC_000001.11:g.201318761C>T	gnomAD
PKP1	Q13835	p.Pro400Leu	RCV000087165	missense variant	-	NC_000001.11:g.201318762C>T	ClinVar
PKP1	Q13835	p.Glu401Gly	rs768259659	missense variant	-	NC_000001.11:g.201318765A>G	ExAC,gnomAD
PKP1	Q13835	p.Phe404Leu	rs200023228	missense variant	-	NC_000001.11:g.201318775C>G	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala406Asp	rs747662140	missense variant	-	NC_000001.11:g.201318780C>A	ExAC,gnomAD
PKP1	Q13835	p.Lys412Thr	rs750345278	missense variant	-	NC_000001.11:g.201319818A>C	ExAC,gnomAD
PKP1	Q13835	p.Arg413Gly	rs1183371664	missense variant	-	NC_000001.11:g.201319820A>G	gnomAD
PKP1	Q13835	p.Gly415Asp	rs1626370	missense variant	-	NC_000001.11:g.201319827G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met416Val	rs1452392453	missense variant	-	NC_000001.11:g.201319829A>G	gnomAD
PKP1	Q13835	p.Met416Thr	rs555119427	missense variant	-	NC_000001.11:g.201319830T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg417Trp	rs1367004080	missense variant	-	NC_000001.11:g.201319832C>T	TOPMed,gnomAD
PKP1	Q13835	p.Arg417Gln	rs558439674	missense variant	-	NC_000001.11:g.201319833G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg417Pro	rs558439674	missense variant	-	NC_000001.11:g.201319833G>C	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala421Thr	rs778577256	missense variant	-	NC_000001.11:g.201319844G>A	ExAC,gnomAD
PKP1	Q13835	p.Leu422Phe	rs749251560	missense variant	-	NC_000001.11:g.201319847C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val423Ile	rs757904043	missense variant	-	NC_000001.11:g.201319850G>A	ExAC,gnomAD
PKP1	Q13835	p.Pro424Leu	rs41269939	missense variant	-	NC_000001.11:g.201319854C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Pro424Gln	rs41269939	missense variant	-	NC_000001.11:g.201319854C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln425Arg	rs746280950	missense variant	-	NC_000001.11:g.201319857A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln425Ter	rs777156700	stop gained	-	NC_000001.11:g.201319856C>T	ExAC,gnomAD
PKP1	Q13835	p.Gln425Pro	rs746280950	missense variant	-	NC_000001.11:g.201319857A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala427Thr	rs770248891	missense variant	-	NC_000001.11:g.201319862G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala427Gly	rs1195386265	missense variant	-	NC_000001.11:g.201319863C>G	TOPMed
PKP1	Q13835	p.Thr428Ile	rs775638130	missense variant	-	NC_000001.11:g.201319866C>T	ExAC,gnomAD
PKP1	Q13835	p.Arg431Lys	rs764089216	missense variant	-	NC_000001.11:g.201319875G>A	ExAC,gnomAD
PKP1	Q13835	p.Val432Met	rs147220754	missense variant	-	NC_000001.11:g.201319877G>A	ESP,ExAC,gnomAD
PKP1	Q13835	p.Val432Leu	rs147220754	missense variant	-	NC_000001.11:g.201319877G>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Leu434Val	rs370631788	missense variant	-	NC_000001.11:g.201320271C>G	ESP,ExAC,gnomAD
PKP1	Q13835	p.Leu434Met	RCV000312725	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201320271C>A	ClinVar
PKP1	Q13835	p.Leu434Met	rs370631788	missense variant	-	NC_000001.11:g.201320271C>A	ESP,ExAC,gnomAD
PKP1	Q13835	p.Ser436Leu	rs151203492	missense variant	-	NC_000001.11:g.201320278C>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Ala437Val	rs1262653085	missense variant	-	NC_000001.11:g.201320281C>T	TOPMed
PKP1	Q13835	p.Asp438Asn	rs141222689	missense variant	-	NC_000001.11:g.201320283G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp438His	rs141222689	missense variant	-	NC_000001.11:g.201320283G>C	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp438Glu	rs1307135760	missense variant	-	NC_000001.11:g.201320285T>A	TOPMed
PKP1	Q13835	p.Ala439Val	rs1306697511	missense variant	-	NC_000001.11:g.201320287C>T	gnomAD
PKP1	Q13835	p.Arg441Ser	rs146785756	missense variant	-	NC_000001.11:g.201320292C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg441His	rs569372122	missense variant	-	NC_000001.11:g.201320293G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg441Cys	rs146785756	missense variant	-	NC_000001.11:g.201320292C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln442Arg	rs749713611	missense variant	-	NC_000001.11:g.201320296A>G	ExAC,gnomAD
PKP1	Q13835	p.Gln442Ter	rs1202429288	stop gained	-	NC_000001.11:g.201320295C>T	gnomAD
PKP1	Q13835	p.Thr443Asn	rs1046125389	missense variant	-	NC_000001.11:g.201320299C>A	TOPMed
PKP1	Q13835	p.Met444Thr	rs1486604991	missense variant	-	NC_000001.11:g.201320302T>C	TOPMed,gnomAD
PKP1	Q13835	p.Arg445His	rs376870836	missense variant	-	NC_000001.11:g.201320305G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg445Cys	rs551980188	missense variant	-	NC_000001.11:g.201320304C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser448Ter	rs1429820969	stop gained	-	NC_000001.11:g.201320314C>A	gnomAD
PKP1	Q13835	p.Gly449Val	rs748356700	missense variant	-	NC_000001.11:g.201320317G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly449Glu	rs748356700	missense variant	-	NC_000001.11:g.201320317G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile451Val	rs772152416	missense variant	-	NC_000001.11:g.201320322A>G	ExAC
PKP1	Q13835	p.Leu454Val	rs1173964822	missense variant	-	NC_000001.11:g.201320331C>G	gnomAD
PKP1	Q13835	p.Met455Ile	rs773209004	missense variant	-	NC_000001.11:g.201320336G>A	ExAC,gnomAD
PKP1	Q13835	p.Met455Thr	rs1247733986	missense variant	-	NC_000001.11:g.201320335T>C	TOPMed
PKP1	Q13835	p.Met455Val	rs1431831173	missense variant	-	NC_000001.11:g.201320334A>G	TOPMed,gnomAD
PKP1	Q13835	p.Tyr457Cys	rs769720924	missense variant	-	NC_000001.11:g.201320341A>G	ExAC,gnomAD
PKP1	Q13835	p.Val458Ile	rs1450179863	missense variant	-	NC_000001.11:g.201320343G>A	TOPMed
PKP1	Q13835	p.Cys461Ser	rs1217670087	missense variant	-	NC_000001.11:g.201320353G>C	TOPMed
PKP1	Q13835	p.Cys461Arg	rs935965202	missense variant	-	NC_000001.11:g.201320352T>C	TOPMed
PKP1	Q13835	p.Val462Ile	rs775266106	missense variant	-	NC_000001.11:g.201320355G>A	ExAC,gnomAD
PKP1	Q13835	p.Ala463Val	rs10920171	missense variant	-	NC_000001.11:g.201320359C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala463Val	RCV000369788	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201320359C>T	ClinVar
PKP1	Q13835	p.Ala464Ser	rs376318223	missense variant	-	NC_000001.11:g.201320361G>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Ala464Val	rs767171812	missense variant	-	NC_000001.11:g.201320362C>T	ExAC,gnomAD
PKP1	Q13835	p.Ala464Pro	rs376318223	missense variant	-	NC_000001.11:g.201320361G>C	ESP,ExAC,gnomAD
PKP1	Q13835	p.Ser465Cys	rs749907021	missense variant	-	NC_000001.11:g.201320364A>T	ExAC,gnomAD
PKP1	Q13835	p.Ser465Arg	rs749907021	missense variant	-	NC_000001.11:g.201320364A>C	ExAC,gnomAD
PKP1	Q13835	p.Arg466Cys	rs74136386	missense variant	-	NC_000001.11:g.201320367C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg466His	rs137968512	missense variant	-	NC_000001.11:g.201320368G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg466Ser	rs74136386	missense variant	-	NC_000001.11:g.201320367C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys467Arg	RCV000277584	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201320370T>C	ClinVar
PKP1	Q13835	p.Cys467Tyr	rs763384777	missense variant	-	NC_000001.11:g.201320371G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Cys467Arg	rs78672252	missense variant	-	NC_000001.11:g.201320370T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp468Glu	rs375542525	missense variant	-	NC_000001.11:g.201320375C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp469His	rs772241922	missense variant	-	NC_000001.11:g.201320376G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp469Glu	rs1359491630	missense variant	-	NC_000001.11:g.201320378C>A	TOPMed
PKP1	Q13835	p.Asp469Asn	rs772241922	missense variant	-	NC_000001.11:g.201320376G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys470Arg	rs777852399	missense variant	-	NC_000001.11:g.201320380A>G	ExAC,gnomAD
PKP1	Q13835	p.Val472Leu	rs760110335	missense variant	-	NC_000001.11:g.201321981G>C	ExAC,gnomAD
PKP1	Q13835	p.Val472Met	rs760110335	missense variant	-	NC_000001.11:g.201321981G>A	ExAC,gnomAD
PKP1	Q13835	p.Glu473Ala	rs1272230675	missense variant	-	NC_000001.11:g.201321985A>C	TOPMed,gnomAD
PKP1	Q13835	p.Glu473Gly	rs1272230675	missense variant	-	NC_000001.11:g.201321985A>G	TOPMed,gnomAD
PKP1	Q13835	p.Asn474Ser	rs1340478586	missense variant	-	NC_000001.11:g.201321988A>G	gnomAD
PKP1	Q13835	p.Met476Leu	rs1225375600	missense variant	-	NC_000001.11:g.201321993A>C	TOPMed
PKP1	Q13835	p.Cys477Tyr	rs1218632733	missense variant	-	NC_000001.11:g.201321997G>A	TOPMed,gnomAD
PKP1	Q13835	p.Val478Asp	rs1256681630	missense variant	-	NC_000001.11:g.201322000T>A	gnomAD
PKP1	Q13835	p.His480Asn	rs371151624	missense variant	-	NC_000001.11:g.201322005C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.His480Tyr	rs371151624	missense variant	-	NC_000001.11:g.201322005C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.His480Arg	rs1255743643	missense variant	-	NC_000001.11:g.201322006A>G	gnomAD
PKP1	Q13835	p.Arg485Cys	rs374293363	missense variant	-	NC_000001.11:g.201322020C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg485Leu	rs751817941	missense variant	-	NC_000001.11:g.201322021G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg485Gly	rs374293363	missense variant	-	NC_000001.11:g.201322020C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg485His	rs751817941	missense variant	-	NC_000001.11:g.201322021G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp487Gly	rs1475602903	missense variant	-	NC_000001.11:g.201322027A>G	gnomAD
PKP1	Q13835	p.Ala488Val	rs756235980	missense variant	-	NC_000001.11:g.201322030C>T	ExAC,gnomAD
PKP1	Q13835	p.Ala488Thr	rs745987954	missense variant	-	NC_000001.11:g.201322029G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu489Lys	rs748085816	missense variant	-	NC_000001.11:g.201322032G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val490Ala	rs772008553	missense variant	-	NC_000001.11:g.201322036T>C	ExAC,gnomAD
PKP1	Q13835	p.Pro491Ser	rs1327429399	missense variant	-	NC_000001.11:g.201322038C>T	gnomAD
PKP1	Q13835	p.Thr492Ile	rs777364969	missense variant	-	NC_000001.11:g.201322042C>T	ExAC,gnomAD
PKP1	Q13835	p.Arg493Cys	rs770440066	missense variant	-	NC_000001.11:g.201322044C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg493His	rs776324521	missense variant	-	NC_000001.11:g.201322045G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg495Cys	rs148461275	missense variant	-	NC_000001.11:g.201322050C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg495His	rs769288054	missense variant	-	NC_000001.11:g.201322051G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg495Leu	rs769288054	missense variant	-	NC_000001.11:g.201322051G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg495Ser	rs148461275	missense variant	-	NC_000001.11:g.201322050C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu497Val	rs1207162563	missense variant	-	NC_000001.11:g.201322056C>G	TOPMed,gnomAD
PKP1	Q13835	p.Glu498Gln	rs557982962	missense variant	-	NC_000001.11:g.201322059G>C	TOPMed,gnomAD
PKP1	Q13835	p.Tyr499His	rs988662998	missense variant	-	NC_000001.11:g.201322062T>C	TOPMed
PKP1	Q13835	p.Ala501Val	rs796851710	missense variant	-	NC_000001.11:g.201322069C>T	TOPMed,gnomAD
PKP1	Q13835	p.Ala501Thr	rs201459638	missense variant	-	NC_000001.11:g.201322068G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala501Ser	rs201459638	missense variant	-	NC_000001.11:g.201322068G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg502Cys	rs370789305	missense variant	-	NC_000001.11:g.201322071C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg502His	rs188436125	missense variant	-	NC_000001.11:g.201322072G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg502Leu	rs188436125	missense variant	-	NC_000001.11:g.201322072G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg502Ser	rs370789305	missense variant	-	NC_000001.11:g.201322071C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn503Lys	rs146580475	missense variant	-	NC_000001.11:g.201322076C>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn503Asp	rs1366980036	missense variant	-	NC_000001.11:g.201322074A>G	TOPMed
PKP1	Q13835	p.Ala504Val	rs201374321	missense variant	-	NC_000001.11:g.201322078C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala504Thr	rs752689001	missense variant	-	NC_000001.11:g.201322077G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala504Pro	rs752689001	missense variant	-	NC_000001.11:g.201322077G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr505Cys	rs199797105	missense variant	-	NC_000001.11:g.201322081A>G	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr506Ser	rs770728579	missense variant	-	NC_000001.11:g.201322084C>G	ExAC,gnomAD
PKP1	Q13835	p.Glu507Lys	rs745505593	missense variant	-	NC_000001.11:g.201322086G>A	ExAC,gnomAD
PKP1	Q13835	p.Glu507Asp	rs1269805388	missense variant	-	NC_000001.11:g.201322088G>T	TOPMed
PKP1	Q13835	p.Lys508Ter	rs1329470812	stop gained	-	NC_000001.11:g.201322089A>T	gnomAD
PKP1	Q13835	p.Ser510Pro	rs1241217137	missense variant	-	NC_000001.11:g.201322095T>C	gnomAD
PKP1	Q13835	p.Gly512Asp	rs1280395238	missense variant	-	NC_000001.11:g.201322102G>A	gnomAD
PKP1	Q13835	p.Cys513Phe	rs769304351	missense variant	-	NC_000001.11:g.201322105G>T	ExAC,gnomAD
PKP1	Q13835	p.Asn516Ser	rs774911270	missense variant	-	NC_000001.11:g.201322114A>G	ExAC,gnomAD
PKP1	Q13835	p.Ser518Asn	rs763478928	missense variant	-	NC_000001.11:g.201322120G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp519Asn	rs769099812	missense variant	-	NC_000001.11:g.201322122G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys520Arg	rs774895069	missense variant	-	NC_000001.11:g.201322126A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met521Ile	rs561719416	missense variant	-	NC_000001.11:g.201322130G>A	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Met521Ile	rs561719416	missense variant	-	NC_000001.11:g.201322130G>C	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Met522Thr	rs1380543459	missense variant	-	NC_000001.11:g.201322132T>C	gnomAD
PKP1	Q13835	p.Asn523Lys	rs1423476509	missense variant	-	NC_000001.11:g.201323015C>A	gnomAD
PKP1	Q13835	p.Asn523Asp	rs1005514362	missense variant	-	NC_000001.11:g.201323013A>G	TOPMed
PKP1	Q13835	p.Asn524Asp	rs143670888	missense variant	-	NC_000001.11:g.201323016A>G	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp527His	rs1366852333	missense variant	-	NC_000001.11:g.201323025G>C	TOPMed
PKP1	Q13835	p.Pro529His	rs1366886599	missense variant	-	NC_000001.11:g.201323032C>A	gnomAD
PKP1	Q13835	p.Pro529Arg	rs1366886599	missense variant	-	NC_000001.11:g.201323032C>G	gnomAD
PKP1	Q13835	p.Leu530Val	rs775595060	missense variant	-	NC_000001.11:g.201323034C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu530Pro	rs913982316	missense variant	-	NC_000001.11:g.201323035T>C	TOPMed
PKP1	Q13835	p.Pro531Leu	rs998787266	missense variant	-	NC_000001.11:g.201323038C>T	TOPMed
PKP1	Q13835	p.Glu532Lys	rs371952348	missense variant	-	NC_000001.11:g.201323040G>A	ESP,ExAC,gnomAD
PKP1	Q13835	p.Glu533Lys	rs764075127	missense variant	-	NC_000001.11:g.201323043G>A	TOPMed
PKP1	Q13835	p.Thr535Ile	rs540459096	missense variant	-	NC_000001.11:g.201323050C>T	1000Genomes,gnomAD
PKP1	Q13835	p.Asn536Tyr	rs1339675923	missense variant	-	NC_000001.11:g.201323052A>T	gnomAD
PKP1	Q13835	p.Asn536Ser	rs751444082	missense variant	-	NC_000001.11:g.201323053A>G	ExAC,gnomAD
PKP1	Q13835	p.Asn536Lys	rs1288395101	missense variant	-	NC_000001.11:g.201323054C>A	TOPMed,gnomAD
PKP1	Q13835	p.Pro537Ser	rs755963789	missense variant	-	NC_000001.11:g.201323055C>T	ExAC,gnomAD
PKP1	Q13835	p.Lys538Asn	rs766109517	missense variant	-	NC_000001.11:g.201323060G>T	ExAC,gnomAD
PKP1	Q13835	p.Ser540Arg	rs150488138	missense variant	-	NC_000001.11:g.201323066C>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser540Asn	rs946700138	missense variant	-	NC_000001.11:g.201323065G>A	gnomAD
PKP1	Q13835	p.Gly541Ser	rs149193673	missense variant	-	NC_000001.11:g.201323067G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly541Val	rs1194792897	missense variant	-	NC_000001.11:g.201323068G>T	gnomAD
PKP1	Q13835	p.Trp542Arg	rs778309621	missense variant	-	NC_000001.11:g.201323070T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu543Phe	rs757816257	missense variant	-	NC_000001.11:g.201323075G>T	ExAC,gnomAD
PKP1	Q13835	p.Leu543Val	rs752302085	missense variant	-	NC_000001.11:g.201323073T>G	ExAC,gnomAD
PKP1	Q13835	p.His545Arg	rs1223145087	missense variant	-	NC_000001.11:g.201323080A>G	TOPMed
PKP1	Q13835	p.His545Tyr	rs778488784	missense variant	-	NC_000001.11:g.201323079C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg550Cys	RCV000262373	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201323094C>T	ClinVar
PKP1	Q13835	p.Arg550Cys	rs747503125	missense variant	-	NC_000001.11:g.201323094C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg550His	rs143362477	missense variant	-	NC_000001.11:g.201323095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu553Pro	rs1336027537	missense variant	-	NC_000001.11:g.201323104T>C	TOPMed
PKP1	Q13835	p.Asn554Ser	rs1359644208	missense variant	-	NC_000001.11:g.201323107A>G	TOPMed,gnomAD
PKP1	Q13835	p.Met556Val	rs1398149786	missense variant	-	NC_000001.11:g.201323112A>G	gnomAD
PKP1	Q13835	p.Met556Thr	rs770005020	missense variant	-	NC_000001.11:g.201323113T>C	ExAC,gnomAD
PKP1	Q13835	p.Gly557Asp	rs775550365	missense variant	-	NC_000001.11:g.201323116G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Lys558Asn	rs1303161730	missense variant	-	NC_000001.11:g.201323120G>C	TOPMed
PKP1	Q13835	p.Lys558Arg	rs768711820	missense variant	-	NC_000001.11:g.201323119A>G	ExAC,gnomAD
PKP1	Q13835	p.Lys558Glu	rs763130822	missense variant	-	NC_000001.11:g.201323118A>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp562Asn	rs978369182	missense variant	-	NC_000001.11:g.201323130G>A	TOPMed,gnomAD
PKP1	Q13835	p.Asp562Val	rs901040424	missense variant	-	NC_000001.11:g.201323131A>T	TOPMed
PKP1	Q13835	p.Ala563Thr	rs933818145	missense variant	-	NC_000001.11:g.201323133G>A	-
PKP1	Q13835	p.Leu565Gln	rs760543372	missense variant	-	NC_000001.11:g.201323140T>A	ExAC,gnomAD
PKP1	Q13835	p.Glu566Lys	rs1285839949	missense variant	-	NC_000001.11:g.201323142G>A	gnomAD
PKP1	Q13835	p.Glu566Asp	rs1487494170	missense variant	-	NC_000001.11:g.201323144G>T	TOPMed,gnomAD
PKP1	Q13835	p.Ala569Val	rs760493882	missense variant	-	NC_000001.11:g.201323152C>T	ExAC,gnomAD
PKP1	Q13835	p.Gly570Val	rs202228705	missense variant	-	NC_000001.11:g.201323155G>T	TOPMed
PKP1	Q13835	p.Ala571Thr	rs753621238	missense variant	-	NC_000001.11:g.201323157G>A	ExAC,gnomAD
PKP1	Q13835	p.Gly580Arg	rs200486077	missense variant	-	NC_000001.11:g.201323184G>C	gnomAD
PKP1	Q13835	p.Gly580Arg	rs200486077	missense variant	-	NC_000001.11:g.201323184G>A	gnomAD
PKP1	Q13835	p.Gly580Glu	rs1363541582	missense variant	-	NC_000001.11:g.201323185G>A	TOPMed
PKP1	Q13835	p.Ser584Arg	rs1227150434	missense variant	-	NC_000001.11:g.201324436T>G	gnomAD
PKP1	Q13835	p.Gly585Asp	rs1357449504	missense variant	-	NC_000001.11:g.201324438G>A	TOPMed
PKP1	Q13835	p.Leu589Phe	rs752406228	missense variant	-	NC_000001.11:g.201324451G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile590Thr	rs202232462	missense variant	-	NC_000001.11:g.201324453T>C	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Glu594Gly	rs751062007	missense variant	-	NC_000001.11:g.201324465A>G	ExAC,gnomAD
PKP1	Q13835	p.Lys595Arg	rs756802087	missense variant	-	NC_000001.11:g.201324468A>G	ExAC,gnomAD
PKP1	Q13835	p.Gly596Ala	rs768107145	missense variant	-	NC_000001.11:g.201324471G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly596Val	rs768107145	missense variant	-	NC_000001.11:g.201324471G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Pro598Ser	rs1180068321	missense variant	-	NC_000001.11:g.201324476C>T	gnomAD
PKP1	Q13835	p.Ala601Thr	rs756518562	missense variant	-	NC_000001.11:g.201324485G>A	ExAC,gnomAD
PKP1	Q13835	p.Ala601Ser	rs756518562	missense variant	-	NC_000001.11:g.201324485G>T	ExAC,gnomAD
PKP1	Q13835	p.Arg602His	rs142096411	missense variant	-	NC_000001.11:g.201324489G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg602Cys	rs377328987	missense variant	-	NC_000001.11:g.201324488C>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu603Ile	rs755148151	missense variant	-	NC_000001.11:g.201324491C>A	ExAC,gnomAD
PKP1	Q13835	p.Gly607Asp	rs748268397	missense variant	-	NC_000001.11:g.201324504G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser609Phe	rs1005266334	missense variant	-	NC_000001.11:g.201324510C>T	TOPMed,gnomAD
PKP1	Q13835	p.Ser609Cys	rs1005266334	missense variant	-	NC_000001.11:g.201324510C>G	TOPMed,gnomAD
PKP1	Q13835	p.Arg613Gln	rs776686849	missense variant	-	NC_000001.11:g.201324522G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg613Trp	rs138678921	missense variant	-	NC_000001.11:g.201324521C>T	ESP,ExAC,gnomAD
PKP1	Q13835	p.Gly615Arg	rs769635879	missense variant	-	NC_000001.11:g.201324527G>A	ExAC
PKP1	Q13835	p.Ala616Gly	rs775106393	missense variant	-	NC_000001.11:g.201324531C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala616Asp	rs775106393	missense variant	-	NC_000001.11:g.201324531C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser617Phe	rs1226887996	missense variant	-	NC_000001.11:g.201324534C>T	TOPMed
PKP1	Q13835	p.Leu618Ile	rs762713136	missense variant	-	NC_000001.11:g.201324536C>A	ExAC,gnomAD
PKP1	Q13835	p.Leu619Val	rs763884182	missense variant	-	NC_000001.11:g.201324539C>G	ExAC,gnomAD
PKP1	Q13835	p.Met622Ile	rs1265259087	missense variant	-	NC_000001.11:g.201324550G>A	gnomAD
PKP1	Q13835	p.Arg624His	rs766882821	missense variant	-	NC_000001.11:g.201324555G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg624Cys	rs761473194	missense variant	-	NC_000001.11:g.201324554C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.His629Arg	rs1438446484	missense variant	-	NC_000001.11:g.201324570A>G	TOPMed
PKP1	Q13835	p.Met632Leu	rs1350255074	missense variant	-	NC_000001.11:g.201324578A>T	TOPMed
PKP1	Q13835	p.Met632Ile	rs532890960	missense variant	-	NC_000001.11:g.201324580G>A	1000Genomes,gnomAD
PKP1	Q13835	p.Gly633Trp	rs756541920	missense variant	-	NC_000001.11:g.201324581G>T	ExAC,gnomAD
PKP1	Q13835	p.Asn634Tyr	rs772552178	missense variant	-	NC_000001.11:g.201324943A>T	ExAC,gnomAD
PKP1	Q13835	p.Gln635Ter	RCV000493473	nonsense	-	NC_000001.11:g.201324946C>T	ClinVar
PKP1	Q13835	p.Gln635Ter	rs1131691647	stop gained	-	NC_000001.11:g.201324946C>T	-
PKP1	Q13835	p.Val636Leu	rs760214615	missense variant	-	NC_000001.11:g.201324949G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val636Leu	rs760214615	missense variant	-	NC_000001.11:g.201324949G>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Phe637Ser	rs954973948	missense variant	-	NC_000001.11:g.201324953T>C	TOPMed
PKP1	Q13835	p.Pro638Leu	rs754339313	missense variant	-	NC_000001.11:g.201324956C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu639Lys	rs1180178780	missense variant	-	NC_000001.11:g.201324958G>A	TOPMed,gnomAD
PKP1	Q13835	p.Val640Met	rs765530477	missense variant	-	NC_000001.11:g.201324961G>A	ExAC,gnomAD
PKP1	Q13835	p.Val640Ala	rs747386296	missense variant	-	NC_000001.11:g.201324962T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr641Pro	rs758509306	missense variant	-	NC_000001.11:g.201324964A>C	ExAC
PKP1	Q13835	p.Thr641Ile	rs777930312	missense variant	-	NC_000001.11:g.201324965C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg642Gly	rs757325454	missense variant	-	NC_000001.11:g.201324967A>G	ExAC
PKP1	Q13835	p.Arg642Ser	rs749222532	missense variant	-	NC_000001.11:g.201324969G>C	ExAC,gnomAD
PKP1	Q13835	p.Arg642Met	rs780204854	missense variant	-	NC_000001.11:g.201324968G>T	ExAC
PKP1	Q13835	p.Leu643Pro	rs768578417	missense variant	-	NC_000001.11:g.201324971T>C	ExAC
PKP1	Q13835	p.Leu644Phe	rs1163150196	missense variant	-	NC_000001.11:g.201324973C>T	TOPMed,gnomAD
PKP1	Q13835	p.Leu644Pro	rs778813790	missense variant	-	NC_000001.11:g.201324974T>C	ExAC,gnomAD
PKP1	Q13835	p.Thr645Ile	rs1252488590	missense variant	-	NC_000001.11:g.201324977C>T	TOPMed
PKP1	Q13835	p.Thr645Pro	rs747829507	missense variant	-	NC_000001.11:g.201324976A>C	ExAC,gnomAD
PKP1	Q13835	p.Gly649Ser	rs373741646	missense variant	-	NC_000001.11:g.201324988G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn653Thr	rs200677178	missense variant	-	NC_000001.11:g.201325001A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser654Pro	rs1342038596	missense variant	-	NC_000001.11:g.201325003T>C	TOPMed,gnomAD
PKP1	Q13835	p.Glu655Lys	rs777137706	missense variant	-	NC_000001.11:g.201325006G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp656Val	rs759967131	missense variant	-	NC_000001.11:g.201325010A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ile657Ser	rs973653685	missense variant	-	NC_000001.11:g.201325013T>G	TOPMed,gnomAD
PKP1	Q13835	p.Ser660Leu	rs1457087583	missense variant	-	NC_000001.11:g.201325022C>T	gnomAD
PKP1	Q13835	p.Ala661Ser	rs763353426	missense variant	-	NC_000001.11:g.201325024G>T	ExAC,gnomAD
PKP1	Q13835	p.Val665Ala	rs1461169842	missense variant	-	NC_000001.11:g.201325037T>C	TOPMed
PKP1	Q13835	p.Val665Leu	rs1467255665	missense variant	-	NC_000001.11:g.201325036G>T	gnomAD
PKP1	Q13835	p.Arg666Lys	RCV000376879	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325040G>A	ClinVar
PKP1	Q13835	p.Arg666Lys	rs757610907	missense variant	-	NC_000001.11:g.201325040G>A	ExAC,gnomAD
PKP1	Q13835	p.Asn667Lys	rs781360485	missense variant	-	NC_000001.11:g.201325044C>G	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn667Lys	RCV000284164	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325044C>A	ClinVar
PKP1	Q13835	p.Asn667Lys	rs781360485	missense variant	-	NC_000001.11:g.201325044C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met669Thr	rs200736537	missense variant	-	NC_000001.11:g.201325049T>C	1000Genomes
PKP1	Q13835	p.Ser671Leu	rs200484616	missense variant	-	NC_000001.11:g.201325055C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln678Pro	rs771897498	missense variant	-	NC_000001.11:g.201325076A>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gln678Leu	rs771897498	missense variant	-	NC_000001.11:g.201325076A>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Tyr679Phe	rs777349855	missense variant	-	NC_000001.11:g.201325079A>T	ExAC,gnomAD
PKP1	Q13835	p.Phe680Ser	rs1467836925	missense variant	-	NC_000001.11:g.201325082T>C	TOPMed
PKP1	Q13835	p.Ser681Phe	rs746616460	missense variant	-	NC_000001.11:g.201325085C>T	ExAC,gnomAD
PKP1	Q13835	p.Ser682Asn	rs770433466	missense variant	-	NC_000001.11:g.201325088G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser682Thr	rs770433466	missense variant	-	NC_000001.11:g.201325088G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Met684Thr	rs1329241993	missense variant	-	NC_000001.11:g.201325094T>C	TOPMed
PKP1	Q13835	p.Asn690His	rs1483799747	missense variant	-	NC_000001.11:g.201325111A>C	gnomAD
PKP1	Q13835	p.Arg693Ter	rs775941545	stop gained	-	NC_000001.11:g.201325120C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg693Gln	rs139909774	missense variant	-	NC_000001.11:g.201325121G>A	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ser695Asn	rs764502250	missense variant	-	NC_000001.11:g.201325127G>A	ExAC,gnomAD
PKP1	Q13835	p.Lys699Met	rs146324118	missense variant	-	NC_000001.11:g.201325765A>T	ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala701Thr	rs553668177	missense variant	-	NC_000001.11:g.201325770G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Ala701Ser	rs553668177	missense variant	-	NC_000001.11:g.201325770G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Glu702Asp	rs752583350	missense variant	-	NC_000001.11:g.201325775A>C	ExAC,gnomAD
PKP1	Q13835	p.Ala703Thr	rs1296476154	missense variant	-	NC_000001.11:g.201325776G>A	gnomAD
PKP1	Q13835	p.Arg705Trp	RCV000341479	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325782C>T	ClinVar
PKP1	Q13835	p.Arg705Gln	rs573352897	missense variant	-	NC_000001.11:g.201325783G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg705Trp	rs61818256	missense variant	-	NC_000001.11:g.201325782C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg705Leu	rs573352897	missense variant	-	NC_000001.11:g.201325783G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Leu706Arg	rs780885568	missense variant	-	NC_000001.11:g.201325786T>G	ExAC,gnomAD
PKP1	Q13835	p.Ser709Pro	rs376796997	missense variant	-	NC_000001.11:g.201325794T>C	ESP,TOPMed
PKP1	Q13835	p.Met711Ile	rs1240215952	missense variant	-	NC_000001.11:g.201325802G>A	TOPMed,gnomAD
PKP1	Q13835	p.Trp712Leu	rs1460695967	missense variant	-	NC_000001.11:g.201325804G>T	TOPMed
PKP1	Q13835	p.Ser713Phe	rs927887275	missense variant	-	NC_000001.11:g.201325807C>T	TOPMed
PKP1	Q13835	p.Ser714Gly	rs1441316536	missense variant	-	NC_000001.11:g.201325809A>G	gnomAD
PKP1	Q13835	p.Gln718Arg	rs1406966092	missense variant	-	NC_000001.11:g.201325822A>G	gnomAD
PKP1	Q13835	p.Gly719Asp	RCV000379711	missense variant	Ectodermal dysplasia skin fragility syndrome	NC_000001.11:g.201325825G>A	ClinVar
PKP1	Q13835	p.Gly719Asp	rs201628992	missense variant	-	NC_000001.11:g.201325825G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly719Cys	rs142615612	missense variant	-	NC_000001.11:g.201325824G>T	1000Genomes
PKP1	Q13835	p.Gly719Val	rs201628992	missense variant	-	NC_000001.11:g.201325825G>T	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Val720Ile	rs769257959	missense variant	-	NC_000001.11:g.201325827G>A	ExAC,gnomAD
PKP1	Q13835	p.Gln724Lys	rs753430088	missense variant	-	NC_000001.11:g.201328762C>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Gly725Ala	rs754442587	missense variant	-	NC_000001.11:g.201328766G>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asp727Gly	rs1382339978	missense variant	-	NC_000001.11:g.201328772A>G	TOPMed
PKP1	Q13835	p.Asp727Asn	rs201180970	missense variant	-	NC_000001.11:g.201328771G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg728Ser	rs778245527	missense variant	-	NC_000001.11:g.201328776G>C	ExAC,gnomAD
PKP1	Q13835	p.Arg728Thr	rs537966263	missense variant	-	NC_000001.11:g.201328775G>C	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg728Lys	rs537966263	missense variant	-	NC_000001.11:g.201328775G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn729Tyr	rs747259738	missense variant	-	NC_000001.11:g.201328777A>T	ExAC,gnomAD
PKP1	Q13835	p.Met730Thr	rs776683618	missense variant	-	NC_000001.11:g.201328781T>C	ExAC,gnomAD
PKP1	Q13835	p.Met730Val	rs771231352	missense variant	-	NC_000001.11:g.201328780A>G	ExAC,gnomAD
PKP1	Q13835	p.Met730Ile	rs1449100844	missense variant	-	NC_000001.11:g.201328782G>C	TOPMed
PKP1	Q13835	p.Gly732Glu	rs551141144	missense variant	-	NC_000001.11:g.201328787G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr733Ile	rs1335340111	missense variant	-	NC_000001.11:g.201328790C>T	gnomAD
PKP1	Q13835	p.Gly736Glu	rs1020364365	missense variant	-	NC_000001.11:g.201328799G>A	TOPMed
PKP1	Q13835	p.Gly736Arg	rs774284273	missense variant	-	NC_000001.11:g.201328798G>A	ExAC,gnomAD
PKP1	Q13835	p.Ala737Thr	rs763900804	missense variant	-	NC_000001.11:g.201328801G>A	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Asn738Ser	rs571427409	missense variant	-	NC_000001.11:g.201328805A>G	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Asn738Ile	rs571427409	missense variant	-	NC_000001.11:g.201328805A>T	1000Genomes,ExAC,gnomAD
PKP1	Q13835	p.Ser739ArgTerSerUnk	rs769059123	stop gained	-	NC_000001.11:g.201328808_201328809insGTGAAGTA	ExAC
PKP1	Q13835	p.Asn742Thr	rs766123431	missense variant	-	NC_000001.11:g.201328817A>C	ExAC,gnomAD
PKP1	Q13835	p.Phe743Leu	rs1347326771	missense variant	-	NC_000001.11:g.201328819T>C	gnomAD
PKP1	Q13835	p.Phe743Ser	rs753419598	missense variant	-	NC_000001.11:g.201328820T>C	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Thr744Ile	rs754535258	missense variant	-	NC_000001.11:g.201328823C>T	ExAC,TOPMed,gnomAD
PKP1	Q13835	p.Arg746Ter	rs531445602	stop gained	-	NC_000001.11:g.201328828C>T	ExAC,gnomAD
PKP1	Q13835	p.Arg746Gln	rs1488332347	missense variant	-	NC_000001.11:g.201328829G>A	TOPMed,gnomAD
PKP1	Q13835	p.Arg746Pro	rs1488332347	missense variant	-	NC_000001.11:g.201328829G>C	TOPMed,gnomAD
PKP1	Q13835	p.Ter748Gln	rs1384227595	stop lost	-	NC_000001.11:g.201328834T>C	TOPMed
RUNX2	Q13950	p.Met1Ile	RCV000784917	missense variant	-	NC_000006.12:g.45328729G>A	ClinVar
RUNX2	Q13950	p.Ser3Leu	rs75454554	missense variant	-	NC_000006.12:g.45328734C>T	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Ser3Ter	rs75454554	stop gained	-	NC_000006.12:g.45328734C>A	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Ser5Asn	rs541256105	missense variant	-	NC_000006.12:g.45328740G>A	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Ser8Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45328749G>A	NCI-TCGA
RUNX2	Q13950	p.Thr11Ala	rs746275240	missense variant	-	NC_000006.12:g.45328757A>G	ExAC,gnomAD
RUNX2	Q13950	p.Pro12Leu	rs373621180	missense variant	-	NC_000006.12:g.45328761C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro12Ser	rs779487649	missense variant	-	NC_000006.12:g.45328760C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro12Arg	rs373621180	missense variant	-	NC_000006.12:g.45328761C>G	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Cys13Arg	rs1308444345	missense variant	-	NC_000006.12:g.45328763T>C	TOPMed,gnomAD
RUNX2	Q13950	p.Cys13Gly	rs1308444345	missense variant	-	NC_000006.12:g.45328763T>G	TOPMed,gnomAD
RUNX2	Q13950	p.Cys13Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45328764G>A	NCI-TCGA
RUNX2	Q13950	p.Gln14Glu	rs768149057	missense variant	-	NC_000006.12:g.45328766C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln14Lys	rs768149057	missense variant	-	NC_000006.12:g.45328766C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln15Lys	rs1441434124	missense variant	-	NC_000006.12:g.45328769C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Gln15Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.45328769C>T	NCI-TCGA
RUNX2	Q13950	p.Phe18Leu	rs1220365106	missense variant	-	NC_000006.12:g.45328778T>C	gnomAD
RUNX2	Q13950	p.Phe18Ser	rs1292121646	missense variant	-	NC_000006.12:g.45328779T>C	gnomAD
RUNX2	Q13950	p.Asp20Asn	rs776156260	missense variant	-	NC_000006.12:g.45328784G>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro21Leu	rs780033324	missense variant	-	NC_000006.12:g.45422596C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro21Thr	rs771988272	missense variant	-	NC_000006.12:g.45422595C>A	ExAC,gnomAD
RUNX2	Q13950	p.Ser22Asn	rs768497827	missense variant	-	NC_000006.12:g.45422599G>A	ExAC,gnomAD
RUNX2	Q13950	p.Thr23Pro	rs776729949	missense variant	-	NC_000006.12:g.45422601A>C	ExAC
RUNX2	Q13950	p.Arg25Pro	rs1384263802	missense variant	-	NC_000006.12:g.45422608G>C	gnomAD
RUNX2	Q13950	p.Arg26His	rs1180264044	missense variant	-	NC_000006.12:g.45422611G>A	TOPMed
RUNX2	Q13950	p.Phe27Leu	rs1457634604	missense variant	-	NC_000006.12:g.45422613T>C	TOPMed
RUNX2	Q13950	p.Pro29Thr	rs114654066	missense variant	-	NC_000006.12:g.45422619C>A	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro29Ser	rs114654066	missense variant	-	NC_000006.12:g.45422619C>T	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro30Arg	rs573668161	missense variant	-	NC_000006.12:g.45422623C>G	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro30Ala	rs990671181	missense variant	-	NC_000006.12:g.45422622C>G	TOPMed,gnomAD
RUNX2	Q13950	p.Pro30His	rs573668161	missense variant	-	NC_000006.12:g.45422623C>A	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro30Thr	rs990671181	missense variant	-	NC_000006.12:g.45422622C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Ser31Ter	RCV000055837	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45422624dup	ClinVar
RUNX2	Q13950	p.Ser31ProPheSerTerUnk	COSM1444867	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.45422618C>-	NCI-TCGA Cosmic
RUNX2	Q13950	p.Ser32Arg	rs1336402260	missense variant	-	NC_000006.12:g.45422630C>A	gnomAD
RUNX2	Q13950	p.Ser33Cys	rs1384459632	missense variant	-	NC_000006.12:g.45422631A>T	TOPMed,gnomAD
RUNX2	Q13950	p.Leu34Val	rs534661233	missense variant	-	NC_000006.12:g.45422634C>G	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Gln35His	rs1442575261	missense variant	-	NC_000006.12:g.45422639G>T	gnomAD
RUNX2	Q13950	p.Gln35Arg	rs1048885121	missense variant	-	NC_000006.12:g.45422638A>G	TOPMed
RUNX2	Q13950	p.Gln35Leu	rs1048885121	missense variant	-	NC_000006.12:g.45422638A>T	TOPMed
RUNX2	Q13950	p.Gln35Ter	rs1358936930	stop gained	-	NC_000006.12:g.45422637C>T	gnomAD
RUNX2	Q13950	p.Pro36Ser	rs1247004200	missense variant	-	NC_000006.12:g.45422640C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Pro36Ala	rs1247004200	missense variant	-	NC_000006.12:g.45422640C>G	TOPMed,gnomAD
RUNX2	Q13950	p.Gly37Arg	rs760049118	missense variant	-	NC_000006.12:g.45422643G>C	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Met39Thr	rs1195139165	missense variant	-	NC_000006.12:g.45422650T>C	gnomAD
RUNX2	Q13950	p.Asp41Glu	rs202042342	missense variant	-	NC_000006.12:g.45422657C>A	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Asp41His	rs200687912	missense variant	-	NC_000006.12:g.45422655G>C	TOPMed,gnomAD
RUNX2	Q13950	p.Val42Leu	rs753332305	missense variant	-	NC_000006.12:g.45422658G>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Val42Met	rs753332305	missense variant	-	NC_000006.12:g.45422658G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Val42Ala	rs1013030225	missense variant	-	NC_000006.12:g.45422659T>C	TOPMed
RUNX2	Q13950	p.Pro44Leu	rs1242010684	missense variant	-	NC_000006.12:g.45422665C>T	gnomAD
RUNX2	Q13950	p.Pro44Arg	rs1242010684	missense variant	-	NC_000006.12:g.45422665C>G	gnomAD
RUNX2	Q13950	p.Val45Gly	rs1405128308	missense variant	-	NC_000006.12:g.45422668T>G	TOPMed
RUNX2	Q13950	p.Gln51Lys	rs368475300	missense variant	-	NC_000006.12:g.45422685C>A	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln51Arg	rs1328346387	missense variant	-	NC_000006.12:g.45422686A>G	gnomAD
RUNX2	Q13950	p.Gln51Lys	RCV000596521	missense variant	-	NC_000006.12:g.45422685C>A	ClinVar
RUNX2	Q13950	p.Gln53Leu	VAR_064081	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Gln54Arg	rs758173198	missense variant	-	NC_000006.12:g.45422695A>G	ExAC,gnomAD
RUNX2	Q13950	p.Gln54Pro	COSM4941172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45422695A>C	NCI-TCGA Cosmic
RUNX2	Q13950	p.Gln56Ter	rs1393672497	stop gained	-	NC_000006.12:g.45422700C>T	gnomAD
RUNX2	Q13950	p.Gln59Arg	rs779943223	missense variant	-	NC_000006.12:g.45422710A>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln64Arg	rs1490532126	missense variant	-	NC_000006.12:g.45422725A>G	TOPMed
RUNX2	Q13950	p.Gln65Glu	rs1332669852	missense variant	-	NC_000006.12:g.45422727C>G	gnomAD
RUNX2	Q13950	p.Gln66Arg	rs1243134950	missense variant	-	NC_000006.12:g.45422731A>G	gnomAD
RUNX2	Q13950	p.Gln67Arg	rs1286291849	missense variant	-	NC_000006.12:g.45422734A>G	gnomAD
RUNX2	Q13950	p.Gln67_Tyr521del	VAR_079576	inframe_deletion	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Gln68Arg	rs1356693369	missense variant	-	NC_000006.12:g.45422737A>G	gnomAD
RUNX2	Q13950	p.Gln69Arg	rs1261964211	missense variant	-	NC_000006.12:g.45422740A>G	gnomAD
RUNX2	Q13950	p.Gln69Lys	rs769836316	missense variant	-	NC_000006.12:g.45422739C>A	ExAC,gnomAD
RUNX2	Q13950	p.Gln70Leu	rs1255698663	missense variant	-	NC_000006.12:g.45422743A>T	gnomAD
RUNX2	Q13950	p.Gln70Ter	rs1461425292	stop gained	-	NC_000006.12:g.45422742C>T	gnomAD
RUNX2	Q13950	p.Gln70His	rs763117080	missense variant	-	NC_000006.12:g.45422744G>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln71Glu	rs774631263	missense variant	-	NC_000006.12:g.45422745C>G	ExAC
RUNX2	Q13950	p.Glu72Asp	rs767984534	missense variant	-	NC_000006.12:g.45422750G>C	ExAC,TOPMed
RUNX2	Q13950	p.Glu72Gln	rs759833497	missense variant	-	NC_000006.12:g.45422748G>C	ExAC,gnomAD
RUNX2	Q13950	p.Glu72Ter	RCV000009878	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45422723_45422737delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG	ClinVar
RUNX2	Q13950	p.Ala73Glu	rs1374009579	missense variant	-	NC_000006.12:g.45422752C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Ala73Thr	rs1192865947	missense variant	-	NC_000006.12:g.45422751G>A	gnomAD
RUNX2	Q13950	p.Ala73Ter	RCV000662189	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45422751del	ClinVar
RUNX2	Q13950	p.Ala73Ter	RCV000662190	frameshift	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB)	NC_000006.12:g.45422751del	ClinVar
RUNX2	Q13950	p.Ala74Glu	rs753139240	missense variant	-	NC_000006.12:g.45422755C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala75Gly	rs1174985080	missense variant	-	NC_000006.12:g.45422758C>G	gnomAD
RUNX2	Q13950	p.Ala77Val	rs1470370276	missense variant	-	NC_000006.12:g.45422764C>T	gnomAD
RUNX2	Q13950	p.Ala77Thr	rs542999615	missense variant	-	NC_000006.12:g.45422763G>A	1000Genomes,ExAC
RUNX2	Q13950	p.Ala78Glu	rs749974335	missense variant	-	NC_000006.12:g.45422767C>A	ExAC,TOPMed
RUNX2	Q13950	p.Ala78Val	rs749974335	missense variant	-	NC_000006.12:g.45422767C>T	ExAC,TOPMed
RUNX2	Q13950	p.Ala78_Ala83del	VAR_012131	inframe_deletion	-	-	UniProt
RUNX2	Q13950	p.Ala79Thr	rs1383016935	missense variant	-	NC_000006.12:g.45422769G>A	gnomAD
RUNX2	Q13950	p.Ala79Val	rs758081090	missense variant	-	NC_000006.12:g.45422770C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala79Ter	RCV000662187	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45422767_45422768insAGGA	ClinVar
RUNX2	Q13950	p.Ala79Ter	RCV000662188	frameshift	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB)	NC_000006.12:g.45422767_45422768insAGGA	ClinVar
RUNX2	Q13950	p.Ala80Glu	rs766130437	missense variant	-	NC_000006.12:g.45422773C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala81Thr	rs1231971719	missense variant	-	NC_000006.12:g.45422775G>A	TOPMed
RUNX2	Q13950	p.Ala81Glu	rs1041352009	missense variant	-	NC_000006.12:g.45422776C>A	TOPMed
RUNX2	Q13950	p.Ala82Thr	rs781083561	missense variant	-	NC_000006.12:g.45422778G>A	ExAC,gnomAD
RUNX2	Q13950	p.Ala84Val	rs1485309580	missense variant	-	NC_000006.12:g.45422785C>T	gnomAD
RUNX2	Q13950	p.Ala84Thr	rs777793369	missense variant	-	NC_000006.12:g.45422784G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala84insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla	VAR_012130	repeated_sequence	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ala85Val	rs372138746	missense variant	-	NC_000006.12:g.45422788C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala85Val	RCV000435406	missense variant	-	NC_000006.12:g.45422788C>T	ClinVar
RUNX2	Q13950	p.Ala86Glu	rs746166928	missense variant	-	NC_000006.12:g.45422791C>A	ExAC
RUNX2	Q13950	p.Ala87Val	rs772291669	missense variant	-	NC_000006.12:g.45422794C>T	ExAC,gnomAD
RUNX2	Q13950	p.Ala88Thr	rs761037120	missense variant	-	NC_000006.12:g.45422796G>A	ExAC,TOPMed
RUNX2	Q13950	p.Ala88Ser	rs761037120	missense variant	-	NC_000006.12:g.45422796G>T	ExAC,TOPMed
RUNX2	Q13950	p.Val90Leu	rs1429247338	missense variant	-	NC_000006.12:g.45422802G>C	gnomAD
RUNX2	Q13950	p.Arg92Gln	rs772777645	missense variant	-	NC_000006.12:g.45422809G>A	ExAC,gnomAD
RUNX2	Q13950	p.Arg92Leu	rs772777645	missense variant	-	NC_000006.12:g.45422809G>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro95Gln	rs1386843651	missense variant	-	NC_000006.12:g.45422818C>A	gnomAD
RUNX2	Q13950	p.His97Gln	rs1183896411	missense variant	-	NC_000006.12:g.45422825C>A	TOPMed
RUNX2	Q13950	p.Asp98Gly	rs766042547	missense variant	-	NC_000006.12:g.45422827A>G	ExAC,gnomAD
RUNX2	Q13950	p.Asn99Ile	rs150962268	missense variant	-	NC_000006.12:g.45422830A>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg100Leu	rs767171242	missense variant	-	NC_000006.12:g.45422833G>T	ExAC,gnomAD
RUNX2	Q13950	p.Arg100Ser	rs754711247	missense variant	-	NC_000006.12:g.45422832C>A	ExAC,gnomAD
RUNX2	Q13950	p.Arg100Gly	rs754711247	missense variant	-	NC_000006.12:g.45422832C>G	ExAC,gnomAD
RUNX2	Q13950	p.Met102Val	rs376849024	missense variant	-	NC_000006.12:g.45422838A>G	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Met102Thr	rs749283473	missense variant	-	NC_000006.12:g.45422839T>C	ExAC,gnomAD
RUNX2	Q13950	p.Val103Met	rs1199502681	missense variant	-	NC_000006.12:g.45422841G>A	TOPMed
RUNX2	Q13950	p.Val103Ala	rs1485928187	missense variant	-	NC_000006.12:g.45422842T>C	TOPMed
RUNX2	Q13950	p.Glu104Ter	COSM3874462	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.45422844G>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Ile105Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45422848T>C	NCI-TCGA
RUNX2	Q13950	p.Ala107Val	rs528470044	missense variant	-	NC_000006.12:g.45422854C>T	1000Genomes
RUNX2	Q13950	p.His109Tyr	rs1490639289	missense variant	-	NC_000006.12:g.45422859C>T	gnomAD
RUNX2	Q13950	p.His109Leu	rs1352066437	missense variant	-	NC_000006.12:g.45422860A>T	TOPMed
RUNX2	Q13950	p.His109Asn	rs1490639289	missense variant	-	NC_000006.12:g.45422859C>A	gnomAD
RUNX2	Q13950	p.Pro110Leu	rs150088136	missense variant	-	NC_000006.12:g.45422863C>T	ESP,ExAC,TOPMed
RUNX2	Q13950	p.Ala111Gly	rs1342614199	missense variant	-	NC_000006.12:g.45422866C>G	TOPMed
RUNX2	Q13950	p.Glu112Lys	rs1418628831	missense variant	-	NC_000006.12:g.45422868G>A	gnomAD
RUNX2	Q13950	p.Leu113Arg	VAR_012132	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Asp117Tyr	rs762474281	missense variant	-	NC_000006.12:g.45422883G>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp117His	rs762474281	missense variant	-	NC_000006.12:g.45422883G>C	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp117Asn	rs762474281	missense variant	-	NC_000006.12:g.45422883G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser118Asn	VAR_064082	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ser118Arg	VAR_012133	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Phe121Cys	VAR_012134	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Cys123Arg	VAR_012135	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Pro127Thr	rs1371950698	missense variant	-	NC_000006.12:g.45422913C>A	gnomAD
RUNX2	Q13950	p.Trp130Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45422924G>T	NCI-TCGA
RUNX2	Q13950	p.Arg131His	rs1308549222	missense variant	-	NC_000006.12:g.45422926G>A	gnomAD
RUNX2	Q13950	p.Arg131Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45422925C>T	NCI-TCGA
RUNX2	Q13950	p.Arg131Ser	VAR_064085	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg131Cys	VAR_064083	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg131Gly	VAR_064084	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Asn133Ser	rs1356764547	missense variant	-	NC_000006.12:g.45422932A>G	gnomAD
RUNX2	Q13950	p.Asn133del	VAR_012136	inframe_deletion	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Leu136Pro	VAR_064086	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ala139Thr	rs760449546	missense variant	-	NC_000006.12:g.45422949G>A	ExAC,gnomAD
RUNX2	Q13950	p.Val142Leu	rs1473913096	missense variant	-	NC_000006.12:g.45431863G>T	gnomAD
RUNX2	Q13950	p.Leu145Phe	rs759100705	missense variant	-	NC_000006.12:g.45431872C>T	ExAC,gnomAD
RUNX2	Q13950	p.Gly146Arg	rs1428979499	missense variant	-	NC_000006.12:g.45431875G>A	gnomAD
RUNX2	Q13950	p.Glu147Lys	rs370512978	missense variant	-	NC_000006.12:g.45431878G>A	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Glu147Asp	rs760361518	missense variant	-	NC_000006.12:g.45431880G>C	ExAC,gnomAD
RUNX2	Q13950	p.Glu147Ter	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45431878G>T	NCI-TCGA
RUNX2	Q13950	p.Pro149Ser	rs763852761	missense variant	-	NC_000006.12:g.45431884C>T	ExAC,gnomAD
RUNX2	Q13950	p.Gly151Ala	rs1360487110	missense variant	-	NC_000006.12:g.45431891G>C	gnomAD
RUNX2	Q13950	p.Thr152Ile	rs373029816	missense variant	-	NC_000006.12:g.45431894C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Thr155Ile	COSM1079805	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45431903C>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Val156Gly	VAR_064088	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Val156Asp	VAR_064087	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Met157Thr	rs1426085360	missense variant	-	NC_000006.12:g.45431909T>C	TOPMed
RUNX2	Q13950	p.Ala158Val	COSM1079807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45431912C>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Gly159Asp	rs864621970	missense variant	-	NC_000006.12:g.45431915G>A	-
RUNX2	Q13950	p.Gly159Asp	RCV000206373	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45431915G>A	ClinVar
RUNX2	Q13950	p.Asn160ThrPheSerTerUnkUnk	COSM1079809	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.45431916T>-	NCI-TCGA Cosmic
RUNX2	Q13950	p.Asp161Asn	rs1477047335	missense variant	-	NC_000006.12:g.45431920G>A	TOPMed
RUNX2	Q13950	p.Asp161Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45431922T>A	NCI-TCGA
RUNX2	Q13950	p.Glu162Gly	rs780062825	missense variant	-	NC_000006.12:g.45431924A>G	ExAC,gnomAD
RUNX2	Q13950	p.Asn163Lys	COSM1079811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45431928T>G	NCI-TCGA Cosmic
RUNX2	Q13950	p.Arg169Trp	rs1203066173	missense variant	-	NC_000006.12:g.45431944C>T	gnomAD
RUNX2	Q13950	p.Arg169Pro	rs104893995	missense variant	-	NC_000006.12:g.45431945G>C	ExAC,gnomAD
RUNX2	Q13950	p.Arg169Pro	rs104893995	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431945G>C	UniProt,dbSNP
RUNX2	Q13950	p.Arg169Pro	VAR_064089	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431945G>C	UniProt
RUNX2	Q13950	p.Arg169Gln	rs104893995	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431945G>A	UniProt,dbSNP
RUNX2	Q13950	p.Arg169Gln	VAR_012137	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431945G>A	UniProt
RUNX2	Q13950	p.Arg169Gln	rs104893995	missense variant	-	NC_000006.12:g.45431945G>A	ExAC,gnomAD
RUNX2	Q13950	p.Arg169Pro	RCV000009890	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45431945G>C	ClinVar
RUNX2	Q13950	p.Asn170Lys	rs1001873615	missense variant	-	NC_000006.12:g.45431949T>G	TOPMed
RUNX2	Q13950	p.Val174Ala	rs568476296	missense variant	-	NC_000006.12:g.45431960T>C	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Met175Val	rs201647225	missense variant	-	NC_000006.12:g.45431962A>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Met175Arg	rs104893989	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431963T>G	UniProt,dbSNP
RUNX2	Q13950	p.Met175Arg	VAR_012138	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431963T>G	UniProt
RUNX2	Q13950	p.Met175Arg	rs104893989	missense variant	-	NC_000006.12:g.45431963T>G	ExAC,gnomAD
RUNX2	Q13950	p.Met175Thr	rs104893989	missense variant	-	NC_000006.12:g.45431963T>C	ExAC,gnomAD
RUNX2	Q13950	p.Met175Arg	RCV000009881	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45431963T>G	ClinVar
RUNX2	Q13950	p.Met175Lys	VAR_064090	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Asn177Lys	rs147359883	missense variant	-	NC_000006.12:g.45431970C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asn177Lys	rs147359883	missense variant	-	NC_000006.12:g.45431970C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asn177Lys	RCV000278819	missense variant	-	NC_000006.12:g.45431970C>G	ClinVar
RUNX2	Q13950	p.Gln178Arg	rs1195717789	missense variant	-	NC_000006.12:g.45431972A>G	gnomAD
RUNX2	Q13950	p.Val179Leu	rs182416246	missense variant	-	NC_000006.12:g.45431974G>C	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Ala180Thr	rs1480082466	missense variant	-	NC_000006.12:g.45431977G>A	gnomAD
RUNX2	Q13950	p.Arg181IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.45431980_45431981insTAAT	NCI-TCGA
RUNX2	Q13950	p.Phe182HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.45431982_45431983insCACATCAGAAAGGC	NCI-TCGA
RUNX2	Q13950	p.Asn183Lys	rs115974315	missense variant	-	NC_000006.12:g.45431988C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp184Asn	COSM1165767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45431989G>A	NCI-TCGA Cosmic
RUNX2	Q13950	p.Arg186Ile	COSM3830654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45431996G>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Arg186Thr	VAR_079577	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Phe187Ser	VAR_064092	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg190Gln	rs1057521068	missense variant	-	NC_000006.12:g.45432008G>A	-
RUNX2	Q13950	p.Arg190Trp	COSM1079813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45432007C>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Arg190Gln	RCV000430285	missense variant	-	NC_000006.12:g.45432008G>A	ClinVar
RUNX2	Q13950	p.Arg190Trp	VAR_012140	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ser191Asn	RCV000009882	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45432011G>A	ClinVar
RUNX2	Q13950	p.Ser191Asn	rs104893990	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45432011G>A	UniProt,dbSNP
RUNX2	Q13950	p.Ser191Asn	VAR_012141	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45432011G>A	UniProt
RUNX2	Q13950	p.Ser191Asn	rs104893990	missense variant	-	NC_000006.12:g.45432011G>A	-
RUNX2	Q13950	p.Ser191TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.45432000_45432001insGTGGGCCG	NCI-TCGA
RUNX2	Q13950	p.Gly192Ter	COSM1487800	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.45432013G>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Arg193Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.45432016C>T	NCI-TCGA
RUNX2	Q13950	p.Arg193Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45432017G>A	NCI-TCGA
RUNX2	Q13950	p.Arg193Gly	VAR_079578	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg193Cys	VAR_012142	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg193Gln	VAR_064093	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Lys195Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45437951G>C	NCI-TCGA
RUNX2	Q13950	p.Lys195Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45437950A>T	NCI-TCGA
RUNX2	Q13950	p.Phe197Ser	VAR_012143	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Leu199Phe	VAR_012144	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Thr200Ala	rs104893993	missense variant	-	NC_000006.12:g.45437964A>G	-
RUNX2	Q13950	p.Thr200Ala	rs104893993	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45437964A>G	UniProt,dbSNP
RUNX2	Q13950	p.Thr200Ala	VAR_012145	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45437964A>G	UniProt
RUNX2	Q13950	p.Thr200Ala	RCV000009888	missense variant	Cleidocranial dysplasia, forme fruste, dental anomalies only	NC_000006.12:g.45437964A>G	ClinVar
RUNX2	Q13950	p.Thr200Ala	RCV000009887	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45437964A>G	ClinVar
RUNX2	Q13950	p.Thr200Ile	VAR_064094	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ile201Lys	VAR_064095	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Thr202Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45437970A>G	NCI-TCGA
RUNX2	Q13950	p.Val203Ile	rs147009083	missense variant	-	NC_000006.12:g.45437973G>A	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Phe204Cys	rs772926106	missense variant	-	NC_000006.12:g.45437977T>G	ExAC,gnomAD
RUNX2	Q13950	p.Thr205Ala	rs762910660	missense variant	-	NC_000006.12:g.45437979A>G	ExAC,gnomAD
RUNX2	Q13950	p.Thr205Arg	VAR_012146	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Pro207Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45437985C>T	NCI-TCGA
RUNX2	Q13950	p.Pro208Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45437988C>T	NCI-TCGA
RUNX2	Q13950	p.Gln209Arg	VAR_012147	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Gln209His	VAR_064096	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ala211Ser	rs1305465503	missense variant	-	NC_000006.12:g.45437997G>T	TOPMed
RUNX2	Q13950	p.Ala211Pro	VAR_064097	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Thr212Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45438001C>A	NCI-TCGA
RUNX2	Q13950	p.Tyr213Cys	rs138138469	missense variant	-	NC_000006.12:g.45438004A>G	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.His214Gln	rs774518258	missense variant	-	NC_000006.12:g.45438008C>G	ExAC,gnomAD
RUNX2	Q13950	p.Arg215Ser	rs759679284	missense variant	-	NC_000006.12:g.45438011A>T	ExAC,gnomAD
RUNX2	Q13950	p.Lys218Asn	rs752933596	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438020A>T	UniProt,dbSNP
RUNX2	Q13950	p.Lys218Asn	VAR_064099	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438020A>T	UniProt
RUNX2	Q13950	p.Lys218Asn	rs752933596	missense variant	-	NC_000006.12:g.45438020A>T	ExAC,gnomAD
RUNX2	Q13950	p.Lys218Gln	VAR_064100	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Lys218Glu	VAR_064098	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Val219Ile	rs1217642791	missense variant	-	NC_000006.12:g.45438021G>A	gnomAD
RUNX2	Q13950	p.Thr220Ile	VAR_064101	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Asp222His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45438030G>C	NCI-TCGA
RUNX2	Q13950	p.Pro224His	rs1325045940	missense variant	-	NC_000006.12:g.45438037C>A	TOPMed
RUNX2	Q13950	p.Arg225Trp	rs104893992	missense variant	-	NC_000006.12:g.45438039C>T	-
RUNX2	Q13950	p.Arg225Trp	rs104893992	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438039C>T	UniProt,dbSNP
RUNX2	Q13950	p.Arg225Trp	VAR_012149	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438039C>T	UniProt
RUNX2	Q13950	p.Arg225Gln	rs104893991	missense variant	-	NC_000006.12:g.45438040G>A	-
RUNX2	Q13950	p.Arg225Gln	rs104893991	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438040G>A	UniProt,dbSNP
RUNX2	Q13950	p.Arg225Gln	VAR_012148	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438040G>A	UniProt
RUNX2	Q13950	p.Arg225Gln	RCV000009885	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45438040G>A	ClinVar
RUNX2	Q13950	p.Arg225Gln	RCV000731332	missense variant	-	NC_000006.12:g.45438040G>A	ClinVar
RUNX2	Q13950	p.Arg225Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45438040G>T	NCI-TCGA
RUNX2	Q13950	p.Arg225Trp	RCV000009886	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45438039C>T	ClinVar
RUNX2	Q13950	p.Arg225Leu	VAR_064102	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg228Gly	VAR_064103	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.His230Asn	rs765653239	missense variant	-	NC_000006.12:g.45491943C>A	ExAC,gnomAD
RUNX2	Q13950	p.Gln232Glu	rs1405556189	missense variant	-	NC_000006.12:g.45491949C>G	gnomAD
RUNX2	Q13950	p.Lys233Arg	VAR_064104	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Leu234Pro	rs1289838464	missense variant	-	NC_000006.12:g.45491956T>C	TOPMed
RUNX2	Q13950	p.Asp235His	rs373709122	missense variant	-	NC_000006.12:g.45491958G>C	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Asp235Gly	rs780701424	missense variant	-	NC_000006.12:g.45491959A>G	ExAC,gnomAD
RUNX2	Q13950	p.Asp236Val	rs180860949	missense variant	-	NC_000006.12:g.45491962A>T	1000Genomes
RUNX2	Q13950	p.Pro239Leu	rs186720964	missense variant	-	NC_000006.12:g.45491971C>T	1000Genomes
RUNX2	Q13950	p.Pro239Ser	rs752156180	missense variant	-	NC_000006.12:g.45491970C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro239Thr	rs752156180	missense variant	-	NC_000006.12:g.45491970C>A	ExAC,gnomAD
RUNX2	Q13950	p.Ser240Arg	rs749040759	missense variant	-	NC_000006.12:g.45491975T>A	ExAC,gnomAD
RUNX2	Q13950	p.Ser240Asn	rs1319345318	missense variant	-	NC_000006.12:g.45491974G>A	TOPMed,gnomAD
RUNX2	Q13950	p.Ser243Cys	rs770818987	missense variant	-	NC_000006.12:g.45491983C>G	ExAC,gnomAD
RUNX2	Q13950	p.Asp244Glu	rs778901535	missense variant	-	NC_000006.12:g.45491987C>A	ExAC,gnomAD
RUNX2	Q13950	p.Asp244His	rs1354561966	missense variant	-	NC_000006.12:g.45491985G>C	TOPMed
RUNX2	Q13950	p.Arg245Cys	rs1201891556	missense variant	-	NC_000006.12:g.45491988C>T	gnomAD
RUNX2	Q13950	p.Arg245His	rs1310889814	missense variant	-	NC_000006.12:g.45491989G>A	TOPMed
RUNX2	Q13950	p.Arg245Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45491989G>T	NCI-TCGA
RUNX2	Q13950	p.Leu246Pro	rs745752587	missense variant	-	NC_000006.12:g.45491992T>C	ExAC,gnomAD
RUNX2	Q13950	p.Ser247Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45491995G>T	NCI-TCGA
RUNX2	Q13950	p.Arg251Cys	rs11498200	missense variant	-	NC_000006.12:g.45492006C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg251Ser	rs11498200	missense variant	-	NC_000006.12:g.45492006C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg251His	rs376891808	missense variant	-	NC_000006.12:g.45492007G>A	ESP,ExAC,gnomAD
RUNX2	Q13950	p.His254Arg	rs377128508	missense variant	-	NC_000006.12:g.45492016A>G	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Pro255His	rs1158008972	missense variant	-	NC_000006.12:g.45492019C>A	TOPMed
RUNX2	Q13950	p.Ser256Thr	rs776708490	missense variant	-	NC_000006.12:g.45492022G>C	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser256Ile	rs776708490	missense variant	-	NC_000006.12:g.45492022G>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Met257Thr	rs1414370387	missense variant	-	NC_000006.12:g.45492025T>C	TOPMed
RUNX2	Q13950	p.Arg258Ile	rs1428685613	missense variant	-	NC_000006.12:g.45492028G>T	gnomAD
RUNX2	Q13950	p.Val259Ile	rs1466738996	missense variant	-	NC_000006.12:g.45492030G>A	TOPMed,gnomAD
RUNX2	Q13950	p.Val261Ile	rs762058135	missense variant	-	NC_000006.12:g.45492036G>A	ExAC,gnomAD
RUNX2	Q13950	p.Val261Ala	COSM1079815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45492037T>C	NCI-TCGA Cosmic
RUNX2	Q13950	p.Pro263His	rs563772449	missense variant	-	NC_000006.12:g.45492043C>A	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro263Leu	rs563772449	missense variant	-	NC_000006.12:g.45492043C>T	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asn265His	rs1221616975	missense variant	-	NC_000006.12:g.45492048A>C	gnomAD
RUNX2	Q13950	p.Arg267Gln	rs1234937174	missense variant	-	NC_000006.12:g.45492055G>A	gnomAD
RUNX2	Q13950	p.Arg267Trp	rs370486033	missense variant	-	NC_000006.12:g.45492054C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro268Arg	rs766812325	missense variant	-	NC_000006.12:g.45492058C>G	ExAC
RUNX2	Q13950	p.Asn271Asp	rs1190085215	missense variant	-	NC_000006.12:g.45492066A>G	TOPMed
RUNX2	Q13950	p.Ala273Pro	rs1443448373	missense variant	-	NC_000006.12:g.45492072G>C	TOPMed
RUNX2	Q13950	p.Ala273Thr	rs1443448373	missense variant	-	NC_000006.12:g.45492072G>A	TOPMed
RUNX2	Q13950	p.Pro274Thr	rs1349550429	missense variant	-	NC_000006.12:g.45492075C>A	gnomAD
RUNX2	Q13950	p.Pro276Ser	rs755578627	missense variant	-	NC_000006.12:g.45492081C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro276Arg	rs1203966568	missense variant	-	NC_000006.12:g.45492082C>G	TOPMed
RUNX2	Q13950	p.Asn278Ile	rs1463155276	missense variant	-	NC_000006.12:g.45492088A>T	TOPMed
RUNX2	Q13950	p.Gln282Arg	rs1489516989	missense variant	-	NC_000006.12:g.45492100A>G	gnomAD
RUNX2	Q13950	p.Asp287Gly	rs1033729267	missense variant	-	NC_000006.12:g.45512246A>G	-
RUNX2	Q13950	p.Asp287Gly	RCV000482841	missense variant	-	NC_000006.12:g.45512246A>G	ClinVar
RUNX2	Q13950	p.Asp287Asn	VAR_064105	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Pro288Ser	rs1179560763	missense variant	-	NC_000006.12:g.45512248C>T	gnomAD
RUNX2	Q13950	p.Pro288Leu	rs148326029	missense variant	-	NC_000006.12:g.45512249C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln290Lys	rs1311296877	missense variant	-	NC_000006.12:g.45512254C>A	gnomAD
RUNX2	Q13950	p.Gln290His	rs760143015	missense variant	-	NC_000006.12:g.45512256G>C	ExAC,gnomAD
RUNX2	Q13950	p.Ala291Pro	rs1244922471	missense variant	-	NC_000006.12:g.45512257G>C	gnomAD
RUNX2	Q13950	p.Pro295Arg	rs763466386	missense variant	-	NC_000006.12:g.45512270C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro295Leu	rs763466386	missense variant	-	NC_000006.12:g.45512270C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro296Ser	rs1554397657	missense variant	-	NC_000006.12:g.45512272C>T	-
RUNX2	Q13950	p.Pro296Ser	RCV000507803	missense variant	-	NC_000006.12:g.45512272C>T	ClinVar
RUNX2	Q13950	p.Pro296Leu	rs201584115	missense variant	-	NC_000006.12:g.45512273C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro296Leu	RCV000374592	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45512273C>T	ClinVar
RUNX2	Q13950	p.Trp297Ter	rs104893988	stop gained	-	NC_000006.12:g.45512277G>A	-
RUNX2	Q13950	p.Trp297Ter	RCV000009879	nonsense	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45512277G>A	ClinVar
RUNX2	Q13950	p.Asp300His	rs370331024	missense variant	-	NC_000006.12:g.45512284G>C	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp300Val	rs1447043793	missense variant	-	NC_000006.12:g.45512285A>T	gnomAD
RUNX2	Q13950	p.Gln301Arg	rs779939748	missense variant	-	NC_000006.12:g.45512288A>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln301Glu	rs758120505	missense variant	-	NC_000006.12:g.45512287C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser302Phe	rs1312487890	missense variant	-	NC_000006.12:g.45512291C>T	gnomAD
RUNX2	Q13950	p.Ser302Ala	rs746897678	missense variant	-	NC_000006.12:g.45512290T>G	ExAC,gnomAD
RUNX2	Q13950	p.Tyr303Phe	rs754963913	missense variant	-	NC_000006.12:g.45512294A>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro304Arg	rs748242152	missense variant	-	NC_000006.12:g.45512297C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro304Ser	rs781207125	missense variant	-	NC_000006.12:g.45512296C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro304Leu	rs748242152	missense variant	-	NC_000006.12:g.45512297C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser305Cys	rs769922027	missense variant	-	NC_000006.12:g.45512300C>G	ExAC,gnomAD
RUNX2	Q13950	p.Tyr306Ser	rs1199475592	missense variant	-	NC_000006.12:g.45512303A>C	gnomAD
RUNX2	Q13950	p.Ser308Arg	rs1181014657	missense variant	-	NC_000006.12:g.45512310C>G	gnomAD
RUNX2	Q13950	p.Ser308Arg	rs1443036287	missense variant	-	NC_000006.12:g.45512308A>C	gnomAD
RUNX2	Q13950	p.Gln309Glu	COSM6106996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45512311C>G	NCI-TCGA Cosmic
RUNX2	Q13950	p.Met310Thr	rs1414266851	missense variant	-	NC_000006.12:g.45512315T>C	gnomAD
RUNX2	Q13950	p.Thr311Met	rs749565421	missense variant	-	NC_000006.12:g.45512318C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser312Phe	COSM4839324	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45512321C>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Pro313Arg	rs535706340	missense variant	-	NC_000006.12:g.45512324C>G	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro313Ala	rs774805163	missense variant	-	NC_000006.12:g.45512323C>G	ExAC,gnomAD
RUNX2	Q13950	p.Pro313Gln	rs535706340	missense variant	-	NC_000006.12:g.45512324C>A	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro313Leu	rs535706340	missense variant	-	NC_000006.12:g.45512324C>T	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser314Pro	rs776221631	missense variant	-	NC_000006.12:g.45512326T>C	ExAC,gnomAD
RUNX2	Q13950	p.Ser314Phe	rs1451478006	missense variant	-	NC_000006.12:g.45512327C>T	gnomAD
RUNX2	Q13950	p.Thr318Ala	rs761391105	missense variant	-	NC_000006.12:g.45512338A>G	ExAC,gnomAD
RUNX2	Q13950	p.Thr318Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45512338A>T	NCI-TCGA
RUNX2	Q13950	p.Pro320Leu	rs746114073	missense variant	-	NC_000006.12:g.45512345C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Leu321AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.45512341_45512342insC	NCI-TCGA
RUNX2	Q13950	p.Arg325Trp	rs751400416	missense variant	-	NC_000006.12:g.45512359C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg325Gln	COSM5870801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45512360G>A	NCI-TCGA Cosmic
RUNX2	Q13950	p.Gly326Ser	rs1476037778	missense variant	-	NC_000006.12:g.45512362G>A	TOPMed
RUNX2	Q13950	p.Gly326Val	rs143092997	missense variant	-	NC_000006.12:g.45512363G>T	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Pro330His	rs781096197	missense variant	-	NC_000006.12:g.45512375C>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro330Ser	rs1382629082	missense variant	-	NC_000006.12:g.45512374C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Ala331Asp	rs114554762	missense variant	-	NC_000006.12:g.45512378C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala331Gly	rs114554762	missense variant	-	NC_000006.12:g.45512378C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala331Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45512378C>T	NCI-TCGA
RUNX2	Q13950	p.Asp334Ala	rs749426825	missense variant	-	NC_000006.12:g.45512387A>C	ExAC,gnomAD
RUNX2	Q13950	p.Asp334Asn	rs373752642	missense variant	-	NC_000006.12:g.45512386G>A	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp334His	rs373752642	missense variant	-	NC_000006.12:g.45512386G>C	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp334Gly	rs749426825	missense variant	-	NC_000006.12:g.45512387A>G	ExAC,gnomAD
RUNX2	Q13950	p.Val335Ala	rs1426595686	missense variant	-	NC_000006.12:g.45512390T>C	TOPMed,gnomAD
RUNX2	Q13950	p.Val335Met	rs771219239	missense variant	-	NC_000006.12:g.45512389G>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro336Leu	rs1366398692	missense variant	-	NC_000006.12:g.45512393C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Arg337Met	COSM345850	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45512396G>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Arg338Cys	rs779082630	missense variant	-	NC_000006.12:g.45512398C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg338His	rs367898326	missense variant	-	NC_000006.12:g.45512399G>A	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg338Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45512398C>G	NCI-TCGA
RUNX2	Q13950	p.Ser340Ter	COSM3830656	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.45512405C>A	NCI-TCGA Cosmic
RUNX2	Q13950	p.Asp341Glu	rs1388460369	missense variant	-	NC_000006.12:g.45545218T>A	TOPMed
RUNX2	Q13950	p.Asp341Gly	rs1369927853	missense variant	-	NC_000006.12:g.45545217A>G	gnomAD
RUNX2	Q13950	p.Asp341Tyr	COSM1079821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45512407G>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Asp342Asn	rs1222286451	missense variant	-	NC_000006.12:g.45545219G>A	gnomAD
RUNX2	Q13950	p.Thr344Ile	rs1354211513	missense variant	-	NC_000006.12:g.45545226C>T	gnomAD
RUNX2	Q13950	p.Pro353Ser	rs1289456738	missense variant	-	NC_000006.12:g.45545252C>T	gnomAD
RUNX2	Q13950	p.Pro353Leu	rs1254496350	missense variant	-	NC_000006.12:g.45545253C>T	gnomAD
RUNX2	Q13950	p.Thr355Ala	rs1450988498	missense variant	-	NC_000006.12:g.45545258A>G	gnomAD
RUNX2	Q13950	p.Ser360Gly	rs1468281184	missense variant	-	NC_000006.12:g.45545273A>G	gnomAD
RUNX2	Q13950	p.Ser360Thr	rs1177692351	missense variant	-	NC_000006.12:g.45545274G>C	gnomAD
RUNX2	Q13950	p.Gln361Leu	rs1297710073	missense variant	-	NC_000006.12:g.45545277A>T	TOPMed
RUNX2	Q13950	p.Ala362Val	VAR_064106	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Glu366Ter	COSM742793	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.45546835G>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Leu367Val	rs140165241	missense variant	-	NC_000006.12:g.45546838C>G	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Gly368AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.45546840G>-	NCI-TCGA
RUNX2	Q13950	p.Pro369Arg	rs767251365	missense variant	-	NC_000006.12:g.45546845C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp372Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45546853G>T	NCI-TCGA
RUNX2	Q13950	p.Asp372Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45546854A>T	NCI-TCGA
RUNX2	Q13950	p.Pro373Arg	rs1401233132	missense variant	-	NC_000006.12:g.45546857C>G	gnomAD
RUNX2	Q13950	p.Ser378Gly	rs752525068	missense variant	-	NC_000006.12:g.45546871A>G	ExAC,gnomAD
RUNX2	Q13950	p.Ser378Arg	rs760543307	missense variant	-	NC_000006.12:g.45546873C>A	ExAC,gnomAD
RUNX2	Q13950	p.Ser380Leu	rs1339712379	missense variant	-	NC_000006.12:g.45546878C>T	gnomAD
RUNX2	Q13950	p.Ser381Phe	rs1341793914	missense variant	-	NC_000006.12:g.45546881C>T	TOPMed
RUNX2	Q13950	p.Arg386His	rs757351966	missense variant	-	NC_000006.12:g.45546896G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg386Cys	rs753780685	missense variant	-	NC_000006.12:g.45546895C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asn389His	rs1388215851	missense variant	-	NC_000006.12:g.45546904A>C	TOPMed
RUNX2	Q13950	p.Asn389Ser	rs115347084	missense variant	-	NC_000006.12:g.45546905A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro390Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45546907C>T	NCI-TCGA
RUNX2	Q13950	p.Arg391Gln	rs780524636	missense variant	-	NC_000006.12:g.45546911G>A	ExAC,gnomAD
RUNX2	Q13950	p.Arg391Ter	rs397515537	stop gained	-	NC_000006.12:g.45546910C>T	-
RUNX2	Q13950	p.Arg391Ter	RCV000055836	nonsense	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45546910C>T	ClinVar
RUNX2	Q13950	p.Tyr394Asp	rs1461715414	missense variant	-	NC_000006.12:g.45546919T>G	TOPMed
RUNX2	Q13950	p.Tyr394Phe	rs747380594	missense variant	-	NC_000006.12:g.45546920A>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro395Gln	rs755482498	missense variant	-	NC_000006.12:g.45546923C>A	ExAC,gnomAD
RUNX2	Q13950	p.Ala396Val	rs1022790945	missense variant	-	NC_000006.12:g.45546926C>T	gnomAD
RUNX2	Q13950	p.Tyr400Cys	rs1477135017	missense variant	-	NC_000006.12:g.45546938A>G	gnomAD
RUNX2	Q13950	p.Tyr400_Tyr521del	VAR_079579	inframe_deletion	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Thr401Pro	rs748644984	missense variant	-	NC_000006.12:g.45546940A>C	ExAC,gnomAD
RUNX2	Q13950	p.Pro402Leu	rs770452837	missense variant	-	NC_000006.12:g.45546944C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro403Leu	rs376694142	missense variant	-	NC_000006.12:g.45546947C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro403Ter	RCV000009884	frameshift	Cleidocranial dysplasia, severe, with osteoporosis and scoliosis	NC_000006.12:g.45546944dup	ClinVar
RUNX2	Q13950	p.Gly407Cys	rs1269813407	missense variant	-	NC_000006.12:g.45546958G>T	TOPMed
RUNX2	Q13950	p.Met408Val	rs1032694844	missense variant	-	NC_000006.12:g.45546961A>G	TOPMed,gnomAD
RUNX2	Q13950	p.Leu410Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45546967C>T	NCI-TCGA
RUNX2	Q13950	p.Leu410Ter	RCV000009891	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45546967dup	ClinVar
RUNX2	Q13950	p.Gly411Val	rs1338264589	missense variant	-	NC_000006.12:g.45546971G>T	gnomAD
RUNX2	Q13950	p.Ala414Thr	rs763860044	missense variant	-	NC_000006.12:g.45546979G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Thr415Ala	COSM3874472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45546982A>G	NCI-TCGA Cosmic
RUNX2	Q13950	p.Thr416Ser	rs1024556116	missense variant	-	NC_000006.12:g.45546986C>G	TOPMed
RUNX2	Q13950	p.His417Asp	rs1319458779	missense variant	-	NC_000006.12:g.45546988C>G	gnomAD
RUNX2	Q13950	p.Thr420Asn	VAR_064108	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Thr420Ile	VAR_064107	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Tyr421Phe	rs1255011742	missense variant	-	NC_000006.12:g.45547001A>T	TOPMed,gnomAD
RUNX2	Q13950	p.Leu422Met	rs1345306388	missense variant	-	NC_000006.12:g.45547003C>A	gnomAD
RUNX2	Q13950	p.Pro424Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547010C>A	NCI-TCGA
RUNX2	Q13950	p.Pro425Leu	rs761701398	missense variant	-	NC_000006.12:g.45547013C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro425Thr	rs1305087594	missense variant	-	NC_000006.12:g.45547012C>A	TOPMed
RUNX2	Q13950	p.Pro425Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547012C>T	NCI-TCGA
RUNX2	Q13950	p.Tyr426Ter	RCV000486764	frameshift	-	NC_000006.12:g.45547014dup	ClinVar
RUNX2	Q13950	p.Pro427Leu	rs765308202	missense variant	-	NC_000006.12:g.45547019C>T	ExAC,gnomAD
RUNX2	Q13950	p.Gly428Ser	rs758626590	missense variant	-	NC_000006.12:g.45547021G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly428Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547022G>A	NCI-TCGA
RUNX2	Q13950	p.Gln431Arg	rs1196892781	missense variant	-	NC_000006.12:g.45547031A>G	gnomAD
RUNX2	Q13950	p.Ser432Arg	rs144760627	missense variant	-	NC_000006.12:g.45547035C>A	ESP,TOPMed
RUNX2	Q13950	p.Gln433Arg	rs1377237744	missense variant	-	NC_000006.12:g.45547037A>G	gnomAD
RUNX2	Q13950	p.Ser434Asn	rs1210047580	missense variant	-	NC_000006.12:g.45547040G>A	gnomAD
RUNX2	Q13950	p.Pro436Ser	rs1172059142	missense variant	-	NC_000006.12:g.45547045C>T	TOPMed
RUNX2	Q13950	p.Pro436Leu	rs751887748	missense variant	-	NC_000006.12:g.45547046C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro436His	rs751887748	missense variant	-	NC_000006.12:g.45547046C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Thr439Pro	rs748640088	missense variant	-	NC_000006.12:g.45547054A>C	ExAC,gnomAD
RUNX2	Q13950	p.Thr439Ala	rs748640088	missense variant	-	NC_000006.12:g.45547054A>G	ExAC,gnomAD
RUNX2	Q13950	p.Thr439Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547055C>A	NCI-TCGA
RUNX2	Q13950	p.Ser441Arg	rs974164696	missense variant	-	NC_000006.12:g.45547062C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Ser441Arg	rs974164696	missense variant	-	NC_000006.12:g.45547062C>G	TOPMed,gnomAD
RUNX2	Q13950	p.Thr442Ser	COSM742791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45547064C>G	NCI-TCGA Cosmic
RUNX2	Q13950	p.Leu445Val	rs1180944672	missense variant	-	NC_000006.12:g.45547072C>G	TOPMed
RUNX2	Q13950	p.Leu445Ile	COSM1079823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45547072C>A	NCI-TCGA Cosmic
RUNX2	Q13950	p.Gly448Cys	rs1384517929	missense variant	-	NC_000006.12:g.45547081G>T	TOPMed,gnomAD
RUNX2	Q13950	p.Ser450Leu	rs369481795	missense variant	-	NC_000006.12:g.45547088C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser450Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.45547088C>A	NCI-TCGA
RUNX2	Q13950	p.Ser450TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.45547087_45547088insA	NCI-TCGA
RUNX2	Q13950	p.Gly452Arg	rs1235041904	missense variant	-	NC_000006.12:g.45547093G>C	TOPMed,gnomAD
RUNX2	Q13950	p.Ser453Phe	rs771630924	missense variant	-	NC_000006.12:g.45547097C>T	ExAC,gnomAD
RUNX2	Q13950	p.Tyr454His	rs1234539221	missense variant	-	NC_000006.12:g.45547099T>C	TOPMed
RUNX2	Q13950	p.Tyr454Cys	rs1216479084	missense variant	-	NC_000006.12:g.45547100A>G	TOPMed,gnomAD
RUNX2	Q13950	p.Tyr454Phe	rs1216479084	missense variant	-	NC_000006.12:g.45547100A>T	TOPMed,gnomAD
RUNX2	Q13950	p.Gln455Pro	rs1182756497	missense variant	-	NC_000006.12:g.45547103A>C	gnomAD
RUNX2	Q13950	p.Gln455Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547102C>G	NCI-TCGA
RUNX2	Q13950	p.Phe456Leu	rs1306807681	missense variant	-	NC_000006.12:g.45547105T>C	TOPMed
RUNX2	Q13950	p.Phe456Leu	rs775121825	missense variant	-	NC_000006.12:g.45547107T>G	ExAC,gnomAD
RUNX2	Q13950	p.Pro457Leu	rs932622541	missense variant	-	NC_000006.12:g.45547109C>T	TOPMed
RUNX2	Q13950	p.Pro457Ser	rs746700872	missense variant	-	NC_000006.12:g.45547108C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro460Leu	rs768473049	missense variant	-	NC_000006.12:g.45547118C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro460Leu	RCV000784916	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45547118C>T	ClinVar
RUNX2	Q13950	p.Pro460Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547117C>T	NCI-TCGA
RUNX2	Q13950	p.Pro460Leu	RCV000784915	missense variant	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB)	NC_000006.12:g.45547118C>T	ClinVar
RUNX2	Q13950	p.Gly461Ala	rs554124503	missense variant	-	NC_000006.12:g.45547121G>C	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Gly461Arg	rs765089321	missense variant	-	NC_000006.12:g.45547120G>C	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly462GluPheSerTerUnkUnk	COSM214471	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.45547119G>-	NCI-TCGA Cosmic
RUNX2	Q13950	p.Gly462_Tyr521del	VAR_079580	inframe_deletion	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Asp463Asn	rs1378225599	missense variant	-	NC_000006.12:g.45547126G>A	gnomAD
RUNX2	Q13950	p.Arg464Gln	rs148639759	missense variant	-	NC_000006.12:g.45547130G>A	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Arg464Leu	rs148639759	missense variant	-	NC_000006.12:g.45547130G>T	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Arg464Trp	rs373218126	missense variant	-	NC_000006.12:g.45547129C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro466Ser	rs751811026	missense variant	-	NC_000006.12:g.45547135C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro471Leu	rs142108189	missense variant	-	NC_000006.12:g.45547151C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro472Leu	rs1173869662	missense variant	-	NC_000006.12:g.45547154C>T	gnomAD
RUNX2	Q13950	p.Thr476Ile	rs1319186519	missense variant	-	NC_000006.12:g.45547166C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Thr476Ala	rs1310470522	missense variant	-	NC_000006.12:g.45547165A>G	gnomAD
RUNX2	Q13950	p.Thr476Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547166C>A	NCI-TCGA
RUNX2	Q13950	p.Ser477Leu	COSM1079825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45547169C>T	NCI-TCGA Cosmic
RUNX2	Q13950	p.Gly479Val	rs746611102	missense variant	-	NC_000006.12:g.45547175G>T	ExAC,gnomAD
RUNX2	Q13950	p.Ser480Asn	rs1215754855	missense variant	-	NC_000006.12:g.45547178G>A	gnomAD
RUNX2	Q13950	p.Thr481Met	rs780973109	missense variant	-	NC_000006.12:g.45547181C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Thr481Ala	rs768220317	missense variant	-	NC_000006.12:g.45547180A>G	ExAC,gnomAD
RUNX2	Q13950	p.Leu482AlaPheSerTerUnk	COSM1079827	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.45547181_45547182insG	NCI-TCGA Cosmic
RUNX2	Q13950	p.Pro485Thr	rs1421970328	missense variant	-	NC_000006.12:g.45547192C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Pro485Gln	rs773277224	missense variant	-	NC_000006.12:g.45547193C>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro485Ser	rs1421970328	missense variant	-	NC_000006.12:g.45547192C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Pro488Ser	rs1041952480	missense variant	-	NC_000006.12:g.45547201C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Gly493Ser	rs1445706105	missense variant	-	NC_000006.12:g.45547216G>A	TOPMed
RUNX2	Q13950	p.Asp495Asn	rs771087017	missense variant	-	NC_000006.12:g.45547222G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala496Val	rs774604105	missense variant	-	NC_000006.12:g.45547226C>T	ExAC,gnomAD
RUNX2	Q13950	p.Asp497Asn	rs759738332	missense variant	-	NC_000006.12:g.45547228G>A	ExAC,gnomAD
RUNX2	Q13950	p.Gly498Glu	rs1322886581	missense variant	-	NC_000006.12:g.45547232G>A	gnomAD
RUNX2	Q13950	p.Gly498Arg	rs1312686830	missense variant	-	NC_000006.12:g.45547231G>A	gnomAD
RUNX2	Q13950	p.Ser503Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547247C>T	NCI-TCGA
RUNX2	Q13950	p.Ser503Tyr	COSM1079829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.45547247C>A	NCI-TCGA Cosmic
RUNX2	Q13950	p.Thr505Ala	rs753025447	missense variant	-	NC_000006.12:g.45547252A>G	ExAC,gnomAD
RUNX2	Q13950	p.Val506Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547255G>T	NCI-TCGA
RUNX2	Q13950	p.Leu507Met	rs1199568242	missense variant	-	NC_000006.12:g.45547258T>A	gnomAD
RUNX2	Q13950	p.Ser509Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547265C>A	NCI-TCGA
RUNX2	Q13950	p.Ser510Asn	rs1401522703	missense variant	-	NC_000006.12:g.45547268G>A	TOPMed
RUNX2	Q13950	p.Gly511Arg	rs11498198	missense variant	-	NC_000006.12:g.45547270G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly511Ser	rs11498198	missense variant	-	NC_000006.12:g.45547270G>A	UniProt,dbSNP
RUNX2	Q13950	p.Gly511Ser	VAR_012150	missense variant	-	NC_000006.12:g.45547270G>A	UniProt
RUNX2	Q13950	p.Gly511Ser	rs11498198	missense variant	-	NC_000006.12:g.45547270G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly511Cys	rs11498198	missense variant	-	NC_000006.12:g.45547270G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly511Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547271G>A	NCI-TCGA
RUNX2	Q13950	p.Gly511Ser	RCV000506710	missense variant	-	NC_000006.12:g.45547270G>A	ClinVar
RUNX2	Q13950	p.Met513Thr	rs754318665	missense variant	-	NC_000006.12:g.45547277T>C	ExAC,gnomAD
RUNX2	Q13950	p.Asp514Asn	rs1256708103	missense variant	-	NC_000006.12:g.45547279G>A	gnomAD
RUNX2	Q13950	p.Asp514Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547280A>G	NCI-TCGA
RUNX2	Q13950	p.Asp514Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547281T>G	NCI-TCGA
RUNX2	Q13950	p.Val517Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.45547289T>C	NCI-TCGA
RUNX2	Q13950	p.Trp518Cys	rs1362755731	missense variant	-	NC_000006.12:g.45547293G>T	TOPMed,gnomAD
RUNX2	Q13950	p.Arg519Gln	rs1218682510	missense variant	-	NC_000006.12:g.45547295G>A	gnomAD
RUNX2	Q13950	p.Ter522Ser	rs104893994	stop lost	-	NC_000006.12:g.45547304G>C	-
RUNX2	Q13950	p.Ter522Ser	RCV000009889	stop lost	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45547304G>C	ClinVar
RUNX2	Q13950	p.Ter522LeuGluUnkThrTerUnkUnk	NCI-TCGA novel	stop lost	-	NC_000006.12:g.45547304G>T	NCI-TCGA
RUNX2	Q13950	p.Met1Ile	RCV000784917	missense variant	-	NC_000006.12:g.45328729G>A	ClinVar
RUNX2	Q13950	p.Ser3Leu	rs75454554	missense variant	-	NC_000006.12:g.45328734C>T	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Ser3Ter	rs75454554	stop gained	-	NC_000006.12:g.45328734C>A	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Ser5Asn	rs541256105	missense variant	-	NC_000006.12:g.45328740G>A	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Thr11Ala	rs746275240	missense variant	-	NC_000006.12:g.45328757A>G	ExAC,gnomAD
RUNX2	Q13950	p.Pro12Ser	rs779487649	missense variant	-	NC_000006.12:g.45328760C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro12Leu	rs373621180	missense variant	-	NC_000006.12:g.45328761C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro12Arg	rs373621180	missense variant	-	NC_000006.12:g.45328761C>G	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Cys13Gly	rs1308444345	missense variant	-	NC_000006.12:g.45328763T>G	TOPMed,gnomAD
RUNX2	Q13950	p.Cys13Arg	rs1308444345	missense variant	-	NC_000006.12:g.45328763T>C	TOPMed,gnomAD
RUNX2	Q13950	p.Gln14Glu	rs768149057	missense variant	-	NC_000006.12:g.45328766C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln14Lys	rs768149057	missense variant	-	NC_000006.12:g.45328766C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln15Lys	rs1441434124	missense variant	-	NC_000006.12:g.45328769C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Phe18Ser	rs1292121646	missense variant	-	NC_000006.12:g.45328779T>C	gnomAD
RUNX2	Q13950	p.Phe18Leu	rs1220365106	missense variant	-	NC_000006.12:g.45328778T>C	gnomAD
RUNX2	Q13950	p.Asp20Asn	rs776156260	missense variant	-	NC_000006.12:g.45328784G>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro21Thr	rs771988272	missense variant	-	NC_000006.12:g.45422595C>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro21Leu	rs780033324	missense variant	-	NC_000006.12:g.45422596C>T	ExAC,gnomAD
RUNX2	Q13950	p.Ser22Asn	rs768497827	missense variant	-	NC_000006.12:g.45422599G>A	ExAC,gnomAD
RUNX2	Q13950	p.Thr23Pro	rs776729949	missense variant	-	NC_000006.12:g.45422601A>C	ExAC
RUNX2	Q13950	p.Arg25Pro	rs1384263802	missense variant	-	NC_000006.12:g.45422608G>C	gnomAD
RUNX2	Q13950	p.Arg26His	rs1180264044	missense variant	-	NC_000006.12:g.45422611G>A	TOPMed
RUNX2	Q13950	p.Phe27Leu	rs1457634604	missense variant	-	NC_000006.12:g.45422613T>C	TOPMed
RUNX2	Q13950	p.Pro29Thr	rs114654066	missense variant	-	NC_000006.12:g.45422619C>A	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro29Ser	rs114654066	missense variant	-	NC_000006.12:g.45422619C>T	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro30Thr	rs990671181	missense variant	-	NC_000006.12:g.45422622C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Pro30His	rs573668161	missense variant	-	NC_000006.12:g.45422623C>A	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro30Arg	rs573668161	missense variant	-	NC_000006.12:g.45422623C>G	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro30Ala	rs990671181	missense variant	-	NC_000006.12:g.45422622C>G	TOPMed,gnomAD
RUNX2	Q13950	p.Ser31Ter	RCV000055837	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45422624dup	ClinVar
RUNX2	Q13950	p.Ser32Arg	rs1336402260	missense variant	-	NC_000006.12:g.45422630C>A	gnomAD
RUNX2	Q13950	p.Ser33Cys	rs1384459632	missense variant	-	NC_000006.12:g.45422631A>T	TOPMed,gnomAD
RUNX2	Q13950	p.Leu34Val	rs534661233	missense variant	-	NC_000006.12:g.45422634C>G	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Gln35His	rs1442575261	missense variant	-	NC_000006.12:g.45422639G>T	gnomAD
RUNX2	Q13950	p.Gln35Arg	rs1048885121	missense variant	-	NC_000006.12:g.45422638A>G	TOPMed
RUNX2	Q13950	p.Gln35Leu	rs1048885121	missense variant	-	NC_000006.12:g.45422638A>T	TOPMed
RUNX2	Q13950	p.Gln35Ter	rs1358936930	stop gained	-	NC_000006.12:g.45422637C>T	gnomAD
RUNX2	Q13950	p.Pro36Ala	rs1247004200	missense variant	-	NC_000006.12:g.45422640C>G	TOPMed,gnomAD
RUNX2	Q13950	p.Pro36Ser	rs1247004200	missense variant	-	NC_000006.12:g.45422640C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Gly37Arg	rs760049118	missense variant	-	NC_000006.12:g.45422643G>C	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Met39Thr	rs1195139165	missense variant	-	NC_000006.12:g.45422650T>C	gnomAD
RUNX2	Q13950	p.Asp41Glu	rs202042342	missense variant	-	NC_000006.12:g.45422657C>A	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Asp41His	rs200687912	missense variant	-	NC_000006.12:g.45422655G>C	TOPMed,gnomAD
RUNX2	Q13950	p.Val42Met	rs753332305	missense variant	-	NC_000006.12:g.45422658G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Val42Leu	rs753332305	missense variant	-	NC_000006.12:g.45422658G>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Val42Ala	rs1013030225	missense variant	-	NC_000006.12:g.45422659T>C	TOPMed
RUNX2	Q13950	p.Pro44Arg	rs1242010684	missense variant	-	NC_000006.12:g.45422665C>G	gnomAD
RUNX2	Q13950	p.Pro44Leu	rs1242010684	missense variant	-	NC_000006.12:g.45422665C>T	gnomAD
RUNX2	Q13950	p.Val45Gly	rs1405128308	missense variant	-	NC_000006.12:g.45422668T>G	TOPMed
RUNX2	Q13950	p.Gln51Arg	rs1328346387	missense variant	-	NC_000006.12:g.45422686A>G	gnomAD
RUNX2	Q13950	p.Gln51Lys	rs368475300	missense variant	-	NC_000006.12:g.45422685C>A	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln51Lys	RCV000596521	missense variant	-	NC_000006.12:g.45422685C>A	ClinVar
RUNX2	Q13950	p.Gln53Leu	VAR_064081	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Gln54Arg	rs758173198	missense variant	-	NC_000006.12:g.45422695A>G	ExAC,gnomAD
RUNX2	Q13950	p.Gln56Ter	rs1393672497	stop gained	-	NC_000006.12:g.45422700C>T	gnomAD
RUNX2	Q13950	p.Gln59Arg	rs779943223	missense variant	-	NC_000006.12:g.45422710A>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln64Arg	rs1490532126	missense variant	-	NC_000006.12:g.45422725A>G	TOPMed
RUNX2	Q13950	p.Gln65Glu	rs1332669852	missense variant	-	NC_000006.12:g.45422727C>G	gnomAD
RUNX2	Q13950	p.Gln66Arg	rs1243134950	missense variant	-	NC_000006.12:g.45422731A>G	gnomAD
RUNX2	Q13950	p.Gln67Arg	rs1286291849	missense variant	-	NC_000006.12:g.45422734A>G	gnomAD
RUNX2	Q13950	p.Gln67_Tyr521del	VAR_079576	inframe_deletion	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Gln68Arg	rs1356693369	missense variant	-	NC_000006.12:g.45422737A>G	gnomAD
RUNX2	Q13950	p.Gln69Lys	rs769836316	missense variant	-	NC_000006.12:g.45422739C>A	ExAC,gnomAD
RUNX2	Q13950	p.Gln69Arg	rs1261964211	missense variant	-	NC_000006.12:g.45422740A>G	gnomAD
RUNX2	Q13950	p.Gln70Ter	rs1461425292	stop gained	-	NC_000006.12:g.45422742C>T	gnomAD
RUNX2	Q13950	p.Gln70Leu	rs1255698663	missense variant	-	NC_000006.12:g.45422743A>T	gnomAD
RUNX2	Q13950	p.Gln70His	rs763117080	missense variant	-	NC_000006.12:g.45422744G>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln71Glu	rs774631263	missense variant	-	NC_000006.12:g.45422745C>G	ExAC
RUNX2	Q13950	p.Glu72Ter	RCV000009878	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45422723_45422737delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG	ClinVar
RUNX2	Q13950	p.Glu72Asp	rs767984534	missense variant	-	NC_000006.12:g.45422750G>C	ExAC,TOPMed
RUNX2	Q13950	p.Glu72Gln	rs759833497	missense variant	-	NC_000006.12:g.45422748G>C	ExAC,gnomAD
RUNX2	Q13950	p.Ala73Thr	rs1192865947	missense variant	-	NC_000006.12:g.45422751G>A	gnomAD
RUNX2	Q13950	p.Ala73Glu	rs1374009579	missense variant	-	NC_000006.12:g.45422752C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Ala73Ter	RCV000662190	frameshift	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB)	NC_000006.12:g.45422751del	ClinVar
RUNX2	Q13950	p.Ala73Ter	RCV000662189	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45422751del	ClinVar
RUNX2	Q13950	p.Ala74Glu	rs753139240	missense variant	-	NC_000006.12:g.45422755C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala75Gly	rs1174985080	missense variant	-	NC_000006.12:g.45422758C>G	gnomAD
RUNX2	Q13950	p.Ala77Val	rs1470370276	missense variant	-	NC_000006.12:g.45422764C>T	gnomAD
RUNX2	Q13950	p.Ala77Thr	rs542999615	missense variant	-	NC_000006.12:g.45422763G>A	1000Genomes,ExAC
RUNX2	Q13950	p.Ala78Val	rs749974335	missense variant	-	NC_000006.12:g.45422767C>T	ExAC,TOPMed
RUNX2	Q13950	p.Ala78Glu	rs749974335	missense variant	-	NC_000006.12:g.45422767C>A	ExAC,TOPMed
RUNX2	Q13950	p.Ala78_Ala83del	VAR_012131	inframe_deletion	-	-	UniProt
RUNX2	Q13950	p.Ala79Thr	rs1383016935	missense variant	-	NC_000006.12:g.45422769G>A	gnomAD
RUNX2	Q13950	p.Ala79Val	rs758081090	missense variant	-	NC_000006.12:g.45422770C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala79Ter	RCV000662188	frameshift	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB)	NC_000006.12:g.45422767_45422768insAGGA	ClinVar
RUNX2	Q13950	p.Ala79Ter	RCV000662187	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45422767_45422768insAGGA	ClinVar
RUNX2	Q13950	p.Ala80Glu	rs766130437	missense variant	-	NC_000006.12:g.45422773C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala81Glu	rs1041352009	missense variant	-	NC_000006.12:g.45422776C>A	TOPMed
RUNX2	Q13950	p.Ala81Thr	rs1231971719	missense variant	-	NC_000006.12:g.45422775G>A	TOPMed
RUNX2	Q13950	p.Ala82Thr	rs781083561	missense variant	-	NC_000006.12:g.45422778G>A	ExAC,gnomAD
RUNX2	Q13950	p.Ala84Val	rs1485309580	missense variant	-	NC_000006.12:g.45422785C>T	gnomAD
RUNX2	Q13950	p.Ala84Thr	rs777793369	missense variant	-	NC_000006.12:g.45422784G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala84insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla	VAR_012130	repeated_sequence	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ala85Val	RCV000435406	missense variant	-	NC_000006.12:g.45422788C>T	ClinVar
RUNX2	Q13950	p.Ala85Val	rs372138746	missense variant	-	NC_000006.12:g.45422788C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala86Glu	rs746166928	missense variant	-	NC_000006.12:g.45422791C>A	ExAC
RUNX2	Q13950	p.Ala87Val	rs772291669	missense variant	-	NC_000006.12:g.45422794C>T	ExAC,gnomAD
RUNX2	Q13950	p.Ala88Thr	rs761037120	missense variant	-	NC_000006.12:g.45422796G>A	ExAC,TOPMed
RUNX2	Q13950	p.Ala88Ser	rs761037120	missense variant	-	NC_000006.12:g.45422796G>T	ExAC,TOPMed
RUNX2	Q13950	p.Val90Leu	rs1429247338	missense variant	-	NC_000006.12:g.45422802G>C	gnomAD
RUNX2	Q13950	p.Arg92Gln	rs772777645	missense variant	-	NC_000006.12:g.45422809G>A	ExAC,gnomAD
RUNX2	Q13950	p.Arg92Leu	rs772777645	missense variant	-	NC_000006.12:g.45422809G>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro95Gln	rs1386843651	missense variant	-	NC_000006.12:g.45422818C>A	gnomAD
RUNX2	Q13950	p.His97Gln	rs1183896411	missense variant	-	NC_000006.12:g.45422825C>A	TOPMed
RUNX2	Q13950	p.Asp98Gly	rs766042547	missense variant	-	NC_000006.12:g.45422827A>G	ExAC,gnomAD
RUNX2	Q13950	p.Asn99Ile	rs150962268	missense variant	-	NC_000006.12:g.45422830A>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg100Leu	rs767171242	missense variant	-	NC_000006.12:g.45422833G>T	ExAC,gnomAD
RUNX2	Q13950	p.Arg100Ser	rs754711247	missense variant	-	NC_000006.12:g.45422832C>A	ExAC,gnomAD
RUNX2	Q13950	p.Arg100Gly	rs754711247	missense variant	-	NC_000006.12:g.45422832C>G	ExAC,gnomAD
RUNX2	Q13950	p.Met102Thr	rs749283473	missense variant	-	NC_000006.12:g.45422839T>C	ExAC,gnomAD
RUNX2	Q13950	p.Met102Val	rs376849024	missense variant	-	NC_000006.12:g.45422838A>G	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Val103Met	rs1199502681	missense variant	-	NC_000006.12:g.45422841G>A	TOPMed
RUNX2	Q13950	p.Val103Ala	rs1485928187	missense variant	-	NC_000006.12:g.45422842T>C	TOPMed
RUNX2	Q13950	p.Ala107Val	rs528470044	missense variant	-	NC_000006.12:g.45422854C>T	1000Genomes
RUNX2	Q13950	p.His109Leu	rs1352066437	missense variant	-	NC_000006.12:g.45422860A>T	TOPMed
RUNX2	Q13950	p.His109Tyr	rs1490639289	missense variant	-	NC_000006.12:g.45422859C>T	gnomAD
RUNX2	Q13950	p.His109Asn	rs1490639289	missense variant	-	NC_000006.12:g.45422859C>A	gnomAD
RUNX2	Q13950	p.Pro110Leu	rs150088136	missense variant	-	NC_000006.12:g.45422863C>T	ESP,ExAC,TOPMed
RUNX2	Q13950	p.Ala111Gly	rs1342614199	missense variant	-	NC_000006.12:g.45422866C>G	TOPMed
RUNX2	Q13950	p.Glu112Lys	rs1418628831	missense variant	-	NC_000006.12:g.45422868G>A	gnomAD
RUNX2	Q13950	p.Leu113Arg	VAR_012132	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Asp117Asn	rs762474281	missense variant	-	NC_000006.12:g.45422883G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp117Tyr	rs762474281	missense variant	-	NC_000006.12:g.45422883G>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp117His	rs762474281	missense variant	-	NC_000006.12:g.45422883G>C	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser118Asn	VAR_064082	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ser118Arg	VAR_012133	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Phe121Cys	VAR_012134	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Cys123Arg	VAR_012135	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Pro127Thr	rs1371950698	missense variant	-	NC_000006.12:g.45422913C>A	gnomAD
RUNX2	Q13950	p.Arg131His	rs1308549222	missense variant	-	NC_000006.12:g.45422926G>A	gnomAD
RUNX2	Q13950	p.Arg131Ser	VAR_064085	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg131Cys	VAR_064083	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg131Gly	VAR_064084	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Asn133Ser	rs1356764547	missense variant	-	NC_000006.12:g.45422932A>G	gnomAD
RUNX2	Q13950	p.Asn133del	VAR_012136	inframe_deletion	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Leu136Pro	VAR_064086	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ala139Thr	rs760449546	missense variant	-	NC_000006.12:g.45422949G>A	ExAC,gnomAD
RUNX2	Q13950	p.Val142Leu	rs1473913096	missense variant	-	NC_000006.12:g.45431863G>T	gnomAD
RUNX2	Q13950	p.Leu145Phe	rs759100705	missense variant	-	NC_000006.12:g.45431872C>T	ExAC,gnomAD
RUNX2	Q13950	p.Gly146Arg	rs1428979499	missense variant	-	NC_000006.12:g.45431875G>A	gnomAD
RUNX2	Q13950	p.Glu147Lys	rs370512978	missense variant	-	NC_000006.12:g.45431878G>A	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Glu147Asp	rs760361518	missense variant	-	NC_000006.12:g.45431880G>C	ExAC,gnomAD
RUNX2	Q13950	p.Pro149Ser	rs763852761	missense variant	-	NC_000006.12:g.45431884C>T	ExAC,gnomAD
RUNX2	Q13950	p.Gly151Ala	rs1360487110	missense variant	-	NC_000006.12:g.45431891G>C	gnomAD
RUNX2	Q13950	p.Thr152Ile	rs373029816	missense variant	-	NC_000006.12:g.45431894C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Val156Gly	VAR_064088	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Val156Asp	VAR_064087	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Met157Thr	rs1426085360	missense variant	-	NC_000006.12:g.45431909T>C	TOPMed
RUNX2	Q13950	p.Gly159Asp	rs864621970	missense variant	-	NC_000006.12:g.45431915G>A	-
RUNX2	Q13950	p.Gly159Asp	RCV000206373	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45431915G>A	ClinVar
RUNX2	Q13950	p.Asp161Asn	rs1477047335	missense variant	-	NC_000006.12:g.45431920G>A	TOPMed
RUNX2	Q13950	p.Glu162Gly	rs780062825	missense variant	-	NC_000006.12:g.45431924A>G	ExAC,gnomAD
RUNX2	Q13950	p.Arg169Trp	rs1203066173	missense variant	-	NC_000006.12:g.45431944C>T	gnomAD
RUNX2	Q13950	p.Arg169Pro	rs104893995	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431945G>C	UniProt,dbSNP
RUNX2	Q13950	p.Arg169Pro	VAR_064089	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431945G>C	UniProt
RUNX2	Q13950	p.Arg169Pro	rs104893995	missense variant	-	NC_000006.12:g.45431945G>C	ExAC,gnomAD
RUNX2	Q13950	p.Arg169Gln	rs104893995	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431945G>A	UniProt,dbSNP
RUNX2	Q13950	p.Arg169Gln	VAR_012137	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431945G>A	UniProt
RUNX2	Q13950	p.Arg169Gln	rs104893995	missense variant	-	NC_000006.12:g.45431945G>A	ExAC,gnomAD
RUNX2	Q13950	p.Arg169Pro	RCV000009890	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45431945G>C	ClinVar
RUNX2	Q13950	p.Asn170Lys	rs1001873615	missense variant	-	NC_000006.12:g.45431949T>G	TOPMed
RUNX2	Q13950	p.Val174Ala	rs568476296	missense variant	-	NC_000006.12:g.45431960T>C	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Met175Thr	rs104893989	missense variant	-	NC_000006.12:g.45431963T>C	ExAC,gnomAD
RUNX2	Q13950	p.Met175Val	rs201647225	missense variant	-	NC_000006.12:g.45431962A>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Met175Arg	rs104893989	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431963T>G	UniProt,dbSNP
RUNX2	Q13950	p.Met175Arg	VAR_012138	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45431963T>G	UniProt
RUNX2	Q13950	p.Met175Arg	rs104893989	missense variant	-	NC_000006.12:g.45431963T>G	ExAC,gnomAD
RUNX2	Q13950	p.Met175Arg	RCV000009881	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45431963T>G	ClinVar
RUNX2	Q13950	p.Met175Lys	VAR_064090	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Asn177Lys	RCV000278819	missense variant	-	NC_000006.12:g.45431970C>G	ClinVar
RUNX2	Q13950	p.Asn177Lys	rs147359883	missense variant	-	NC_000006.12:g.45431970C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asn177Lys	rs147359883	missense variant	-	NC_000006.12:g.45431970C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln178Arg	rs1195717789	missense variant	-	NC_000006.12:g.45431972A>G	gnomAD
RUNX2	Q13950	p.Val179Leu	rs182416246	missense variant	-	NC_000006.12:g.45431974G>C	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Ala180Thr	rs1480082466	missense variant	-	NC_000006.12:g.45431977G>A	gnomAD
RUNX2	Q13950	p.Asn183Lys	rs115974315	missense variant	-	NC_000006.12:g.45431988C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg186Thr	VAR_079577	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Phe187Ser	VAR_064092	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg190Gln	rs1057521068	missense variant	-	NC_000006.12:g.45432008G>A	-
RUNX2	Q13950	p.Arg190Gln	RCV000430285	missense variant	-	NC_000006.12:g.45432008G>A	ClinVar
RUNX2	Q13950	p.Arg190Trp	VAR_012140	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ser191Asn	RCV000009882	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45432011G>A	ClinVar
RUNX2	Q13950	p.Ser191Asn	rs104893990	missense variant	-	NC_000006.12:g.45432011G>A	-
RUNX2	Q13950	p.Ser191Asn	rs104893990	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45432011G>A	UniProt,dbSNP
RUNX2	Q13950	p.Ser191Asn	VAR_012141	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45432011G>A	UniProt
RUNX2	Q13950	p.Arg193Gly	VAR_079578	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg193Cys	VAR_012142	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg193Gln	VAR_064093	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Phe197Ser	VAR_012143	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Leu199Phe	VAR_012144	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Thr200Ala	rs104893993	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45437964A>G	UniProt,dbSNP
RUNX2	Q13950	p.Thr200Ala	VAR_012145	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45437964A>G	UniProt
RUNX2	Q13950	p.Thr200Ala	rs104893993	missense variant	-	NC_000006.12:g.45437964A>G	-
RUNX2	Q13950	p.Thr200Ala	RCV000009888	missense variant	Cleidocranial dysplasia, forme fruste, dental anomalies only	NC_000006.12:g.45437964A>G	ClinVar
RUNX2	Q13950	p.Thr200Ala	RCV000009887	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45437964A>G	ClinVar
RUNX2	Q13950	p.Thr200Ile	VAR_064094	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ile201Lys	VAR_064095	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Val203Ile	rs147009083	missense variant	-	NC_000006.12:g.45437973G>A	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Phe204Cys	rs772926106	missense variant	-	NC_000006.12:g.45437977T>G	ExAC,gnomAD
RUNX2	Q13950	p.Thr205Ala	rs762910660	missense variant	-	NC_000006.12:g.45437979A>G	ExAC,gnomAD
RUNX2	Q13950	p.Thr205Arg	VAR_012146	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Gln209His	VAR_064096	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Gln209Arg	VAR_012147	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Ala211Ser	rs1305465503	missense variant	-	NC_000006.12:g.45437997G>T	TOPMed
RUNX2	Q13950	p.Ala211Pro	VAR_064097	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Tyr213Cys	rs138138469	missense variant	-	NC_000006.12:g.45438004A>G	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.His214Gln	rs774518258	missense variant	-	NC_000006.12:g.45438008C>G	ExAC,gnomAD
RUNX2	Q13950	p.Arg215Ser	rs759679284	missense variant	-	NC_000006.12:g.45438011A>T	ExAC,gnomAD
RUNX2	Q13950	p.Lys218Asn	rs752933596	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438020A>T	UniProt,dbSNP
RUNX2	Q13950	p.Lys218Asn	VAR_064099	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438020A>T	UniProt
RUNX2	Q13950	p.Lys218Asn	rs752933596	missense variant	-	NC_000006.12:g.45438020A>T	ExAC,gnomAD
RUNX2	Q13950	p.Lys218Gln	VAR_064100	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Lys218Glu	VAR_064098	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Val219Ile	rs1217642791	missense variant	-	NC_000006.12:g.45438021G>A	gnomAD
RUNX2	Q13950	p.Thr220Ile	VAR_064101	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Pro224His	rs1325045940	missense variant	-	NC_000006.12:g.45438037C>A	TOPMed
RUNX2	Q13950	p.Arg225Trp	rs104893992	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438039C>T	UniProt,dbSNP
RUNX2	Q13950	p.Arg225Trp	VAR_012149	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438039C>T	UniProt
RUNX2	Q13950	p.Arg225Gln	rs104893991	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438040G>A	UniProt,dbSNP
RUNX2	Q13950	p.Arg225Gln	VAR_012148	missense variant	Cleidocranial dysplasia (CLCD)	NC_000006.12:g.45438040G>A	UniProt
RUNX2	Q13950	p.Arg225Gln	rs104893991	missense variant	-	NC_000006.12:g.45438040G>A	-
RUNX2	Q13950	p.Arg225Trp	rs104893992	missense variant	-	NC_000006.12:g.45438039C>T	-
RUNX2	Q13950	p.Arg225Gln	RCV000009885	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45438040G>A	ClinVar
RUNX2	Q13950	p.Arg225Gln	RCV000731332	missense variant	-	NC_000006.12:g.45438040G>A	ClinVar
RUNX2	Q13950	p.Arg225Trp	RCV000009886	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45438039C>T	ClinVar
RUNX2	Q13950	p.Arg225Leu	VAR_064102	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Arg228Gly	VAR_064103	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.His230Asn	rs765653239	missense variant	-	NC_000006.12:g.45491943C>A	ExAC,gnomAD
RUNX2	Q13950	p.Gln232Glu	rs1405556189	missense variant	-	NC_000006.12:g.45491949C>G	gnomAD
RUNX2	Q13950	p.Lys233Arg	VAR_064104	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Leu234Pro	rs1289838464	missense variant	-	NC_000006.12:g.45491956T>C	TOPMed
RUNX2	Q13950	p.Asp235Gly	rs780701424	missense variant	-	NC_000006.12:g.45491959A>G	ExAC,gnomAD
RUNX2	Q13950	p.Asp235His	rs373709122	missense variant	-	NC_000006.12:g.45491958G>C	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Asp236Val	rs180860949	missense variant	-	NC_000006.12:g.45491962A>T	1000Genomes
RUNX2	Q13950	p.Pro239Thr	rs752156180	missense variant	-	NC_000006.12:g.45491970C>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro239Ser	rs752156180	missense variant	-	NC_000006.12:g.45491970C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro239Leu	rs186720964	missense variant	-	NC_000006.12:g.45491971C>T	1000Genomes
RUNX2	Q13950	p.Ser240Asn	rs1319345318	missense variant	-	NC_000006.12:g.45491974G>A	TOPMed,gnomAD
RUNX2	Q13950	p.Ser240Arg	rs749040759	missense variant	-	NC_000006.12:g.45491975T>A	ExAC,gnomAD
RUNX2	Q13950	p.Ser243Cys	rs770818987	missense variant	-	NC_000006.12:g.45491983C>G	ExAC,gnomAD
RUNX2	Q13950	p.Asp244Glu	rs778901535	missense variant	-	NC_000006.12:g.45491987C>A	ExAC,gnomAD
RUNX2	Q13950	p.Asp244His	rs1354561966	missense variant	-	NC_000006.12:g.45491985G>C	TOPMed
RUNX2	Q13950	p.Arg245Cys	rs1201891556	missense variant	-	NC_000006.12:g.45491988C>T	gnomAD
RUNX2	Q13950	p.Arg245His	rs1310889814	missense variant	-	NC_000006.12:g.45491989G>A	TOPMed
RUNX2	Q13950	p.Leu246Pro	rs745752587	missense variant	-	NC_000006.12:g.45491992T>C	ExAC,gnomAD
RUNX2	Q13950	p.Arg251Cys	rs11498200	missense variant	-	NC_000006.12:g.45492006C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg251Ser	rs11498200	missense variant	-	NC_000006.12:g.45492006C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg251His	rs376891808	missense variant	-	NC_000006.12:g.45492007G>A	ESP,ExAC,gnomAD
RUNX2	Q13950	p.His254Arg	rs377128508	missense variant	-	NC_000006.12:g.45492016A>G	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Pro255His	rs1158008972	missense variant	-	NC_000006.12:g.45492019C>A	TOPMed
RUNX2	Q13950	p.Ser256Ile	rs776708490	missense variant	-	NC_000006.12:g.45492022G>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser256Thr	rs776708490	missense variant	-	NC_000006.12:g.45492022G>C	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Met257Thr	rs1414370387	missense variant	-	NC_000006.12:g.45492025T>C	TOPMed
RUNX2	Q13950	p.Arg258Ile	rs1428685613	missense variant	-	NC_000006.12:g.45492028G>T	gnomAD
RUNX2	Q13950	p.Val259Ile	rs1466738996	missense variant	-	NC_000006.12:g.45492030G>A	TOPMed,gnomAD
RUNX2	Q13950	p.Val261Ile	rs762058135	missense variant	-	NC_000006.12:g.45492036G>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro263His	rs563772449	missense variant	-	NC_000006.12:g.45492043C>A	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro263Leu	rs563772449	missense variant	-	NC_000006.12:g.45492043C>T	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asn265His	rs1221616975	missense variant	-	NC_000006.12:g.45492048A>C	gnomAD
RUNX2	Q13950	p.Arg267Gln	rs1234937174	missense variant	-	NC_000006.12:g.45492055G>A	gnomAD
RUNX2	Q13950	p.Arg267Trp	rs370486033	missense variant	-	NC_000006.12:g.45492054C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro268Arg	rs766812325	missense variant	-	NC_000006.12:g.45492058C>G	ExAC
RUNX2	Q13950	p.Asn271Asp	rs1190085215	missense variant	-	NC_000006.12:g.45492066A>G	TOPMed
RUNX2	Q13950	p.Ala273Thr	rs1443448373	missense variant	-	NC_000006.12:g.45492072G>A	TOPMed
RUNX2	Q13950	p.Ala273Pro	rs1443448373	missense variant	-	NC_000006.12:g.45492072G>C	TOPMed
RUNX2	Q13950	p.Pro274Thr	rs1349550429	missense variant	-	NC_000006.12:g.45492075C>A	gnomAD
RUNX2	Q13950	p.Pro276Arg	rs1203966568	missense variant	-	NC_000006.12:g.45492082C>G	TOPMed
RUNX2	Q13950	p.Pro276Ser	rs755578627	missense variant	-	NC_000006.12:g.45492081C>T	ExAC,gnomAD
RUNX2	Q13950	p.Asn278Ile	rs1463155276	missense variant	-	NC_000006.12:g.45492088A>T	TOPMed
RUNX2	Q13950	p.Gln282Arg	rs1489516989	missense variant	-	NC_000006.12:g.45492100A>G	gnomAD
RUNX2	Q13950	p.Asp287Gly	rs1033729267	missense variant	-	NC_000006.12:g.45512246A>G	-
RUNX2	Q13950	p.Asp287Gly	RCV000482841	missense variant	-	NC_000006.12:g.45512246A>G	ClinVar
RUNX2	Q13950	p.Asp287Asn	VAR_064105	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Pro288Ser	rs1179560763	missense variant	-	NC_000006.12:g.45512248C>T	gnomAD
RUNX2	Q13950	p.Pro288Leu	rs148326029	missense variant	-	NC_000006.12:g.45512249C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln290His	rs760143015	missense variant	-	NC_000006.12:g.45512256G>C	ExAC,gnomAD
RUNX2	Q13950	p.Gln290Lys	rs1311296877	missense variant	-	NC_000006.12:g.45512254C>A	gnomAD
RUNX2	Q13950	p.Ala291Pro	rs1244922471	missense variant	-	NC_000006.12:g.45512257G>C	gnomAD
RUNX2	Q13950	p.Pro295Leu	rs763466386	missense variant	-	NC_000006.12:g.45512270C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro295Arg	rs763466386	missense variant	-	NC_000006.12:g.45512270C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro296Ser	rs1554397657	missense variant	-	NC_000006.12:g.45512272C>T	-
RUNX2	Q13950	p.Pro296Ser	RCV000507803	missense variant	-	NC_000006.12:g.45512272C>T	ClinVar
RUNX2	Q13950	p.Pro296Leu	RCV000374592	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45512273C>T	ClinVar
RUNX2	Q13950	p.Pro296Leu	rs201584115	missense variant	-	NC_000006.12:g.45512273C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Trp297Ter	rs104893988	stop gained	-	NC_000006.12:g.45512277G>A	-
RUNX2	Q13950	p.Trp297Ter	RCV000009879	nonsense	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45512277G>A	ClinVar
RUNX2	Q13950	p.Asp300Val	rs1447043793	missense variant	-	NC_000006.12:g.45512285A>T	gnomAD
RUNX2	Q13950	p.Asp300His	rs370331024	missense variant	-	NC_000006.12:g.45512284G>C	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln301Arg	rs779939748	missense variant	-	NC_000006.12:g.45512288A>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln301Glu	rs758120505	missense variant	-	NC_000006.12:g.45512287C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser302Ala	rs746897678	missense variant	-	NC_000006.12:g.45512290T>G	ExAC,gnomAD
RUNX2	Q13950	p.Ser302Phe	rs1312487890	missense variant	-	NC_000006.12:g.45512291C>T	gnomAD
RUNX2	Q13950	p.Tyr303Phe	rs754963913	missense variant	-	NC_000006.12:g.45512294A>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro304Leu	rs748242152	missense variant	-	NC_000006.12:g.45512297C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro304Arg	rs748242152	missense variant	-	NC_000006.12:g.45512297C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro304Ser	rs781207125	missense variant	-	NC_000006.12:g.45512296C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ser305Cys	rs769922027	missense variant	-	NC_000006.12:g.45512300C>G	ExAC,gnomAD
RUNX2	Q13950	p.Tyr306Ser	rs1199475592	missense variant	-	NC_000006.12:g.45512303A>C	gnomAD
RUNX2	Q13950	p.Ser308Arg	rs1181014657	missense variant	-	NC_000006.12:g.45512310C>G	gnomAD
RUNX2	Q13950	p.Ser308Arg	rs1443036287	missense variant	-	NC_000006.12:g.45512308A>C	gnomAD
RUNX2	Q13950	p.Met310Thr	rs1414266851	missense variant	-	NC_000006.12:g.45512315T>C	gnomAD
RUNX2	Q13950	p.Thr311Met	rs749565421	missense variant	-	NC_000006.12:g.45512318C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro313Gln	rs535706340	missense variant	-	NC_000006.12:g.45512324C>A	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro313Leu	rs535706340	missense variant	-	NC_000006.12:g.45512324C>T	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro313Arg	rs535706340	missense variant	-	NC_000006.12:g.45512324C>G	1000Genomes,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro313Ala	rs774805163	missense variant	-	NC_000006.12:g.45512323C>G	ExAC,gnomAD
RUNX2	Q13950	p.Ser314Phe	rs1451478006	missense variant	-	NC_000006.12:g.45512327C>T	gnomAD
RUNX2	Q13950	p.Ser314Pro	rs776221631	missense variant	-	NC_000006.12:g.45512326T>C	ExAC,gnomAD
RUNX2	Q13950	p.Thr318Ala	rs761391105	missense variant	-	NC_000006.12:g.45512338A>G	ExAC,gnomAD
RUNX2	Q13950	p.Pro320Leu	rs746114073	missense variant	-	NC_000006.12:g.45512345C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg325Trp	rs751400416	missense variant	-	NC_000006.12:g.45512359C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly326Ser	rs1476037778	missense variant	-	NC_000006.12:g.45512362G>A	TOPMed
RUNX2	Q13950	p.Gly326Val	rs143092997	missense variant	-	NC_000006.12:g.45512363G>T	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Pro330Ser	rs1382629082	missense variant	-	NC_000006.12:g.45512374C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Pro330His	rs781096197	missense variant	-	NC_000006.12:g.45512375C>A	ExAC,gnomAD
RUNX2	Q13950	p.Ala331Asp	rs114554762	missense variant	-	NC_000006.12:g.45512378C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala331Gly	rs114554762	missense variant	-	NC_000006.12:g.45512378C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp334Gly	rs749426825	missense variant	-	NC_000006.12:g.45512387A>G	ExAC,gnomAD
RUNX2	Q13950	p.Asp334Asn	rs373752642	missense variant	-	NC_000006.12:g.45512386G>A	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp334Ala	rs749426825	missense variant	-	NC_000006.12:g.45512387A>C	ExAC,gnomAD
RUNX2	Q13950	p.Asp334His	rs373752642	missense variant	-	NC_000006.12:g.45512386G>C	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Val335Ala	rs1426595686	missense variant	-	NC_000006.12:g.45512390T>C	TOPMed,gnomAD
RUNX2	Q13950	p.Val335Met	rs771219239	missense variant	-	NC_000006.12:g.45512389G>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro336Leu	rs1366398692	missense variant	-	NC_000006.12:g.45512393C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Arg338Cys	rs779082630	missense variant	-	NC_000006.12:g.45512398C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg338His	rs367898326	missense variant	-	NC_000006.12:g.45512399G>A	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asp341Glu	rs1388460369	missense variant	-	NC_000006.12:g.45545218T>A	TOPMed
RUNX2	Q13950	p.Asp341Gly	rs1369927853	missense variant	-	NC_000006.12:g.45545217A>G	gnomAD
RUNX2	Q13950	p.Asp342Asn	rs1222286451	missense variant	-	NC_000006.12:g.45545219G>A	gnomAD
RUNX2	Q13950	p.Thr344Ile	rs1354211513	missense variant	-	NC_000006.12:g.45545226C>T	gnomAD
RUNX2	Q13950	p.Pro353Leu	rs1254496350	missense variant	-	NC_000006.12:g.45545253C>T	gnomAD
RUNX2	Q13950	p.Pro353Ser	rs1289456738	missense variant	-	NC_000006.12:g.45545252C>T	gnomAD
RUNX2	Q13950	p.Thr355Ala	rs1450988498	missense variant	-	NC_000006.12:g.45545258A>G	gnomAD
RUNX2	Q13950	p.Ser360Thr	rs1177692351	missense variant	-	NC_000006.12:g.45545274G>C	gnomAD
RUNX2	Q13950	p.Ser360Gly	rs1468281184	missense variant	-	NC_000006.12:g.45545273A>G	gnomAD
RUNX2	Q13950	p.Gln361Leu	rs1297710073	missense variant	-	NC_000006.12:g.45545277A>T	TOPMed
RUNX2	Q13950	p.Ala362Val	VAR_064106	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Leu367Val	rs140165241	missense variant	-	NC_000006.12:g.45546838C>G	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Pro369Arg	rs767251365	missense variant	-	NC_000006.12:g.45546845C>G	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro373Arg	rs1401233132	missense variant	-	NC_000006.12:g.45546857C>G	gnomAD
RUNX2	Q13950	p.Ser378Gly	rs752525068	missense variant	-	NC_000006.12:g.45546871A>G	ExAC,gnomAD
RUNX2	Q13950	p.Ser378Arg	rs760543307	missense variant	-	NC_000006.12:g.45546873C>A	ExAC,gnomAD
RUNX2	Q13950	p.Ser380Leu	rs1339712379	missense variant	-	NC_000006.12:g.45546878C>T	gnomAD
RUNX2	Q13950	p.Ser381Phe	rs1341793914	missense variant	-	NC_000006.12:g.45546881C>T	TOPMed
RUNX2	Q13950	p.Arg386His	rs757351966	missense variant	-	NC_000006.12:g.45546896G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg386Cys	rs753780685	missense variant	-	NC_000006.12:g.45546895C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asn389Ser	rs115347084	missense variant	-	NC_000006.12:g.45546905A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Asn389His	rs1388215851	missense variant	-	NC_000006.12:g.45546904A>C	TOPMed
RUNX2	Q13950	p.Arg391Ter	RCV000055836	nonsense	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45546910C>T	ClinVar
RUNX2	Q13950	p.Arg391Ter	rs397515537	stop gained	-	NC_000006.12:g.45546910C>T	-
RUNX2	Q13950	p.Arg391Gln	rs780524636	missense variant	-	NC_000006.12:g.45546911G>A	ExAC,gnomAD
RUNX2	Q13950	p.Tyr394Asp	rs1461715414	missense variant	-	NC_000006.12:g.45546919T>G	TOPMed
RUNX2	Q13950	p.Tyr394Phe	rs747380594	missense variant	-	NC_000006.12:g.45546920A>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro395Gln	rs755482498	missense variant	-	NC_000006.12:g.45546923C>A	ExAC,gnomAD
RUNX2	Q13950	p.Ala396Val	rs1022790945	missense variant	-	NC_000006.12:g.45546926C>T	gnomAD
RUNX2	Q13950	p.Tyr400Cys	rs1477135017	missense variant	-	NC_000006.12:g.45546938A>G	gnomAD
RUNX2	Q13950	p.Tyr400_Tyr521del	VAR_079579	inframe_deletion	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Thr401Pro	rs748644984	missense variant	-	NC_000006.12:g.45546940A>C	ExAC,gnomAD
RUNX2	Q13950	p.Pro402Leu	rs770452837	missense variant	-	NC_000006.12:g.45546944C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro403Leu	rs376694142	missense variant	-	NC_000006.12:g.45546947C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro403Ter	RCV000009884	frameshift	Cleidocranial dysplasia, severe, with osteoporosis and scoliosis	NC_000006.12:g.45546944dup	ClinVar
RUNX2	Q13950	p.Gly407Cys	rs1269813407	missense variant	-	NC_000006.12:g.45546958G>T	TOPMed
RUNX2	Q13950	p.Met408Val	rs1032694844	missense variant	-	NC_000006.12:g.45546961A>G	TOPMed,gnomAD
RUNX2	Q13950	p.Leu410Ter	RCV000009891	frameshift	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45546967dup	ClinVar
RUNX2	Q13950	p.Gly411Val	rs1338264589	missense variant	-	NC_000006.12:g.45546971G>T	gnomAD
RUNX2	Q13950	p.Ala414Thr	rs763860044	missense variant	-	NC_000006.12:g.45546979G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Thr416Ser	rs1024556116	missense variant	-	NC_000006.12:g.45546986C>G	TOPMed
RUNX2	Q13950	p.His417Asp	rs1319458779	missense variant	-	NC_000006.12:g.45546988C>G	gnomAD
RUNX2	Q13950	p.Thr420Asn	VAR_064108	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Thr420Ile	VAR_064107	Missense	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Tyr421Phe	rs1255011742	missense variant	-	NC_000006.12:g.45547001A>T	TOPMed,gnomAD
RUNX2	Q13950	p.Leu422Met	rs1345306388	missense variant	-	NC_000006.12:g.45547003C>A	gnomAD
RUNX2	Q13950	p.Pro425Leu	rs761701398	missense variant	-	NC_000006.12:g.45547013C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro425Thr	rs1305087594	missense variant	-	NC_000006.12:g.45547012C>A	TOPMed
RUNX2	Q13950	p.Tyr426Ter	RCV000486764	frameshift	-	NC_000006.12:g.45547014dup	ClinVar
RUNX2	Q13950	p.Pro427Leu	rs765308202	missense variant	-	NC_000006.12:g.45547019C>T	ExAC,gnomAD
RUNX2	Q13950	p.Gly428Ser	rs758626590	missense variant	-	NC_000006.12:g.45547021G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gln431Arg	rs1196892781	missense variant	-	NC_000006.12:g.45547031A>G	gnomAD
RUNX2	Q13950	p.Ser432Arg	rs144760627	missense variant	-	NC_000006.12:g.45547035C>A	ESP,TOPMed
RUNX2	Q13950	p.Gln433Arg	rs1377237744	missense variant	-	NC_000006.12:g.45547037A>G	gnomAD
RUNX2	Q13950	p.Ser434Asn	rs1210047580	missense variant	-	NC_000006.12:g.45547040G>A	gnomAD
RUNX2	Q13950	p.Pro436Leu	rs751887748	missense variant	-	NC_000006.12:g.45547046C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro436Ser	rs1172059142	missense variant	-	NC_000006.12:g.45547045C>T	TOPMed
RUNX2	Q13950	p.Pro436His	rs751887748	missense variant	-	NC_000006.12:g.45547046C>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Thr439Pro	rs748640088	missense variant	-	NC_000006.12:g.45547054A>C	ExAC,gnomAD
RUNX2	Q13950	p.Thr439Ala	rs748640088	missense variant	-	NC_000006.12:g.45547054A>G	ExAC,gnomAD
RUNX2	Q13950	p.Ser441Arg	rs974164696	missense variant	-	NC_000006.12:g.45547062C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Ser441Arg	rs974164696	missense variant	-	NC_000006.12:g.45547062C>G	TOPMed,gnomAD
RUNX2	Q13950	p.Leu445Val	rs1180944672	missense variant	-	NC_000006.12:g.45547072C>G	TOPMed
RUNX2	Q13950	p.Gly448Cys	rs1384517929	missense variant	-	NC_000006.12:g.45547081G>T	TOPMed,gnomAD
RUNX2	Q13950	p.Ser450Leu	rs369481795	missense variant	-	NC_000006.12:g.45547088C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly452Arg	rs1235041904	missense variant	-	NC_000006.12:g.45547093G>C	TOPMed,gnomAD
RUNX2	Q13950	p.Ser453Phe	rs771630924	missense variant	-	NC_000006.12:g.45547097C>T	ExAC,gnomAD
RUNX2	Q13950	p.Tyr454Cys	rs1216479084	missense variant	-	NC_000006.12:g.45547100A>G	TOPMed,gnomAD
RUNX2	Q13950	p.Tyr454His	rs1234539221	missense variant	-	NC_000006.12:g.45547099T>C	TOPMed
RUNX2	Q13950	p.Tyr454Phe	rs1216479084	missense variant	-	NC_000006.12:g.45547100A>T	TOPMed,gnomAD
RUNX2	Q13950	p.Gln455Pro	rs1182756497	missense variant	-	NC_000006.12:g.45547103A>C	gnomAD
RUNX2	Q13950	p.Phe456Leu	rs775121825	missense variant	-	NC_000006.12:g.45547107T>G	ExAC,gnomAD
RUNX2	Q13950	p.Phe456Leu	rs1306807681	missense variant	-	NC_000006.12:g.45547105T>C	TOPMed
RUNX2	Q13950	p.Pro457Ser	rs746700872	missense variant	-	NC_000006.12:g.45547108C>T	ExAC,gnomAD
RUNX2	Q13950	p.Pro457Leu	rs932622541	missense variant	-	NC_000006.12:g.45547109C>T	TOPMed
RUNX2	Q13950	p.Pro460Leu	RCV000784915	missense variant	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB)	NC_000006.12:g.45547118C>T	ClinVar
RUNX2	Q13950	p.Pro460Leu	rs768473049	missense variant	-	NC_000006.12:g.45547118C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro460Leu	RCV000784916	missense variant	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45547118C>T	ClinVar
RUNX2	Q13950	p.Gly461Ala	rs554124503	missense variant	-	NC_000006.12:g.45547121G>C	1000Genomes,ExAC,gnomAD
RUNX2	Q13950	p.Gly461Arg	rs765089321	missense variant	-	NC_000006.12:g.45547120G>C	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly462_Tyr521del	VAR_079580	inframe_deletion	Cleidocranial dysplasia (CLCD) [MIM:119600]	-	UniProt
RUNX2	Q13950	p.Asp463Asn	rs1378225599	missense variant	-	NC_000006.12:g.45547126G>A	gnomAD
RUNX2	Q13950	p.Arg464Trp	rs373218126	missense variant	-	NC_000006.12:g.45547129C>T	ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Arg464Gln	rs148639759	missense variant	-	NC_000006.12:g.45547130G>A	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Arg464Leu	rs148639759	missense variant	-	NC_000006.12:g.45547130G>T	ESP,ExAC,gnomAD
RUNX2	Q13950	p.Pro466Ser	rs751811026	missense variant	-	NC_000006.12:g.45547135C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro471Leu	rs142108189	missense variant	-	NC_000006.12:g.45547151C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro472Leu	rs1173869662	missense variant	-	NC_000006.12:g.45547154C>T	gnomAD
RUNX2	Q13950	p.Thr476Ile	rs1319186519	missense variant	-	NC_000006.12:g.45547166C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Thr476Ala	rs1310470522	missense variant	-	NC_000006.12:g.45547165A>G	gnomAD
RUNX2	Q13950	p.Gly479Val	rs746611102	missense variant	-	NC_000006.12:g.45547175G>T	ExAC,gnomAD
RUNX2	Q13950	p.Ser480Asn	rs1215754855	missense variant	-	NC_000006.12:g.45547178G>A	gnomAD
RUNX2	Q13950	p.Thr481Ala	rs768220317	missense variant	-	NC_000006.12:g.45547180A>G	ExAC,gnomAD
RUNX2	Q13950	p.Thr481Met	rs780973109	missense variant	-	NC_000006.12:g.45547181C>T	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Pro485Thr	rs1421970328	missense variant	-	NC_000006.12:g.45547192C>A	TOPMed,gnomAD
RUNX2	Q13950	p.Pro485Gln	rs773277224	missense variant	-	NC_000006.12:g.45547193C>A	ExAC,gnomAD
RUNX2	Q13950	p.Pro485Ser	rs1421970328	missense variant	-	NC_000006.12:g.45547192C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Pro488Ser	rs1041952480	missense variant	-	NC_000006.12:g.45547201C>T	TOPMed,gnomAD
RUNX2	Q13950	p.Gly493Ser	rs1445706105	missense variant	-	NC_000006.12:g.45547216G>A	TOPMed
RUNX2	Q13950	p.Asp495Asn	rs771087017	missense variant	-	NC_000006.12:g.45547222G>A	ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Ala496Val	rs774604105	missense variant	-	NC_000006.12:g.45547226C>T	ExAC,gnomAD
RUNX2	Q13950	p.Asp497Asn	rs759738332	missense variant	-	NC_000006.12:g.45547228G>A	ExAC,gnomAD
RUNX2	Q13950	p.Gly498Arg	rs1312686830	missense variant	-	NC_000006.12:g.45547231G>A	gnomAD
RUNX2	Q13950	p.Gly498Glu	rs1322886581	missense variant	-	NC_000006.12:g.45547232G>A	gnomAD
RUNX2	Q13950	p.Thr505Ala	rs753025447	missense variant	-	NC_000006.12:g.45547252A>G	ExAC,gnomAD
RUNX2	Q13950	p.Leu507Met	rs1199568242	missense variant	-	NC_000006.12:g.45547258T>A	gnomAD
RUNX2	Q13950	p.Ser510Asn	rs1401522703	missense variant	-	NC_000006.12:g.45547268G>A	TOPMed
RUNX2	Q13950	p.Gly511Arg	rs11498198	missense variant	-	NC_000006.12:g.45547270G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly511Ser	rs11498198	missense variant	-	NC_000006.12:g.45547270G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly511Ser	rs11498198	missense variant	-	NC_000006.12:g.45547270G>A	UniProt,dbSNP
RUNX2	Q13950	p.Gly511Ser	VAR_012150	missense variant	-	NC_000006.12:g.45547270G>A	UniProt
RUNX2	Q13950	p.Gly511Cys	rs11498198	missense variant	-	NC_000006.12:g.45547270G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RUNX2	Q13950	p.Gly511Ser	RCV000506710	missense variant	-	NC_000006.12:g.45547270G>A	ClinVar
RUNX2	Q13950	p.Met513Thr	rs754318665	missense variant	-	NC_000006.12:g.45547277T>C	ExAC,gnomAD
RUNX2	Q13950	p.Asp514Asn	rs1256708103	missense variant	-	NC_000006.12:g.45547279G>A	gnomAD
RUNX2	Q13950	p.Trp518Cys	rs1362755731	missense variant	-	NC_000006.12:g.45547293G>T	TOPMed,gnomAD
RUNX2	Q13950	p.Arg519Gln	rs1218682510	missense variant	-	NC_000006.12:g.45547295G>A	gnomAD
RUNX2	Q13950	p.Ter522Ser	rs104893994	stop lost	-	NC_000006.12:g.45547304G>C	-
RUNX2	Q13950	p.Ter522Ser	RCV000009889	stop lost	Cleidocranial dysostosis (CCD)	NC_000006.12:g.45547304G>C	ClinVar
SIM2	Q14190	p.Lys4Glu	rs760789833	missense variant	-	NC_000021.9:g.36699756A>G	ExAC,gnomAD
SIM2	Q14190	p.Ser5Phe	rs764319761	missense variant	-	NC_000021.9:g.36699760C>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser5Cys	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36699760C>G	NCI-TCGA
SIM2	Q14190	p.Ala8Glu	rs1404292148	missense variant	-	NC_000021.9:g.36699769C>A	gnomAD
SIM2	Q14190	p.Ala8Ser	rs753796262	missense variant	-	NC_000021.9:g.36699768G>T	ExAC,gnomAD
SIM2	Q14190	p.Ala9Ser	rs1243082353	missense variant	-	NC_000021.9:g.36699771G>T	gnomAD
SIM2	Q14190	p.Lys10Glu	rs1379983560	missense variant	-	NC_000021.9:g.36699774A>G	gnomAD
SIM2	Q14190	p.Thr11Ile	rs1317065059	missense variant	-	NC_000021.9:g.36699778C>T	TOPMed,gnomAD
SIM2	Q14190	p.Arg13Ser	rs1300261163	missense variant	-	NC_000021.9:g.36699785G>C	gnomAD
SIM2	Q14190	p.Glu16Lys	rs1234040313	missense variant	-	NC_000021.9:g.36699792G>A	gnomAD
SIM2	Q14190	p.Gly18Ala	rs376678295	missense variant	-	NC_000021.9:g.36699799G>C	ESP
SIM2	Q14190	p.Glu19Asp	rs1484544110	missense variant	-	NC_000021.9:g.36699803G>C	gnomAD
SIM2	Q14190	p.Tyr21Ter	rs750179033	stop gained	-	NC_000021.9:g.36699809C>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Tyr21ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000021.9:g.36699804T>-	NCI-TCGA
SIM2	Q14190	p.Glu22Lys	rs758135000	missense variant	-	NC_000021.9:g.36699810G>A	ExAC,gnomAD
SIM2	Q14190	p.Pro28Leu	rs1251382646	missense variant	-	NC_000021.9:g.36699829C>T	gnomAD
SIM2	Q14190	p.Pro30Ser	rs1453517810	missense variant	-	NC_000021.9:g.36699834C>T	gnomAD
SIM2	Q14190	p.Ser31Leu	rs780742769	missense variant	-	NC_000021.9:g.36699838C>T	ExAC,gnomAD
SIM2	Q14190	p.Ile33Ser	rs1157467468	missense variant	-	NC_000021.9:g.36699844T>G	gnomAD
SIM2	Q14190	p.Thr34Ile	rs940139819	missense variant	-	NC_000021.9:g.36699847C>T	gnomAD
SIM2	Q14190	p.Thr34Ala	rs1193953156	missense variant	-	NC_000021.9:g.36699846A>G	TOPMed
SIM2	Q14190	p.Gln36Lys	rs1489146556	missense variant	-	NC_000021.9:g.36699852C>A	TOPMed
SIM2	Q14190	p.Gln36Pro	rs1323406896	missense variant	-	NC_000021.9:g.36699853A>C	gnomAD
SIM2	Q14190	p.Asp38Asn	rs1369819511	missense variant	-	NC_000021.9:g.36699858G>A	gnomAD
SIM2	Q14190	p.Asp38Gly	rs535903610	missense variant	-	NC_000021.9:g.36699859A>G	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Asp38Ala	rs535903610	missense variant	-	NC_000021.9:g.36699859A>C	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Lys39Glu	rs746201650	missense variant	-	NC_000021.9:g.36699861A>G	ExAC,gnomAD
SIM2	Q14190	p.Ala40Glu	rs772347076	missense variant	-	NC_000021.9:g.36699865C>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala40Val	COSM1647444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36699865C>T	NCI-TCGA Cosmic
SIM2	Q14190	p.Ala40Gly	rs772347076	missense variant	-	NC_000021.9:g.36699865C>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser41Cys	rs1260219040	missense variant	-	NC_000021.9:g.36699868C>G	gnomAD
SIM2	Q14190	p.Ile42Val	rs1267183034	missense variant	-	NC_000021.9:g.36699870A>G	TOPMed
SIM2	Q14190	p.Arg44His	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36699877G>A	NCI-TCGA
SIM2	Q14190	p.Leu45Val	rs1235145110	missense variant	-	NC_000021.9:g.36699879C>G	TOPMed
SIM2	Q14190	p.Leu45Phe	rs1235145110	missense variant	-	NC_000021.9:g.36699879C>T	TOPMed
SIM2	Q14190	p.Thr47Lys	rs1468233363	missense variant	-	NC_000021.9:g.36699886C>A	TOPMed,gnomAD
SIM2	Q14190	p.Arg53Leu	rs1412637502	missense variant	-	NC_000021.9:g.36699904G>T	gnomAD
SIM2	Q14190	p.Arg53Gly	rs765158971	missense variant	-	NC_000021.9:g.36699903C>G	ExAC,gnomAD
SIM2	Q14190	p.Arg53Ser	rs765158971	missense variant	-	NC_000021.9:g.36699903C>A	ExAC,gnomAD
SIM2	Q14190	p.Ala54Ser	rs750361630	missense variant	-	NC_000021.9:g.36699906G>T	ExAC,gnomAD
SIM2	Q14190	p.Ala54Thr	rs750361630	missense variant	-	NC_000021.9:g.36699906G>A	ExAC,gnomAD
SIM2	Q14190	p.Val55Phe	rs1458140476	missense variant	-	NC_000021.9:g.36699909G>T	gnomAD
SIM2	Q14190	p.Phe56Leu	rs1294478906	missense variant	-	NC_000021.9:g.36699914C>G	gnomAD
SIM2	Q14190	p.Pro57Leu	COSM5151115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36699916C>T	NCI-TCGA Cosmic
SIM2	Q14190	p.Glu58Gln	rs751205672	missense variant	-	NC_000021.9:g.36699918G>C	ExAC,gnomAD
SIM2	Q14190	p.Glu58Lys	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36699918G>A	NCI-TCGA
SIM2	Q14190	p.Gly59Asp	rs1359116083	missense variant	-	NC_000021.9:g.36709168G>A	gnomAD
SIM2	Q14190	p.Gly61Arg	rs1021014434	missense variant	-	NC_000021.9:g.36709173G>A	gnomAD
SIM2	Q14190	p.Asp62Glu	rs1304703841	missense variant	-	NC_000021.9:g.36709178C>A	TOPMed,gnomAD
SIM2	Q14190	p.Ala63Thr	rs369631270	missense variant	-	NC_000021.9:g.36709179G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala63Glu	rs116988298	missense variant	-	NC_000021.9:g.36709180C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala63Val	rs116988298	missense variant	-	NC_000021.9:g.36709180C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala63Ser	rs369631270	missense variant	-	NC_000021.9:g.36709179G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Trp64Ter	rs1343962004	stop gained	-	NC_000021.9:g.36709183G>A	gnomAD
SIM2	Q14190	p.Gly65Glu	rs141551574	missense variant	-	NC_000021.9:g.36709186G>A	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gln66His	rs1277772504	missense variant	-	NC_000021.9:g.36709190G>T	gnomAD
SIM2	Q14190	p.Pro67Ser	COSM5151117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36709191C>T	NCI-TCGA Cosmic
SIM2	Q14190	p.Pro67Thr	rs542050355	missense variant	-	NC_000021.9:g.36709191C>A	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser68Arg	rs1341237571	missense variant	-	NC_000021.9:g.36709196C>A	TOPMed
SIM2	Q14190	p.Arg69Leu	rs1485336653	missense variant	-	NC_000021.9:g.36709198G>T	TOPMed,gnomAD
SIM2	Q14190	p.Arg69His	rs1485336653	missense variant	-	NC_000021.9:g.36709198G>A	TOPMed,gnomAD
SIM2	Q14190	p.Arg69Cys	rs773218274	missense variant	-	NC_000021.9:g.36709197C>T	ExAC,gnomAD
SIM2	Q14190	p.Ala70Thr	rs146997732	missense variant	-	NC_000021.9:g.36709200G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala70Pro	rs146997732	missense variant	-	NC_000021.9:g.36709200G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly71Arg	rs1299374054	missense variant	-	NC_000021.9:g.36709203G>A	TOPMed
SIM2	Q14190	p.Pro72Leu	rs759275950	missense variant	-	NC_000021.9:g.36709207C>T	ExAC,gnomAD
SIM2	Q14190	p.Pro72Thr	rs147646943	missense variant	-	NC_000021.9:g.36709206C>A	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asp74His	rs752365204	missense variant	-	NC_000021.9:g.36709212G>C	ExAC,gnomAD
SIM2	Q14190	p.Asp74Gly	rs760313844	missense variant	-	NC_000021.9:g.36709213A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly75Ala	rs906355246	missense variant	-	NC_000021.9:g.36709216G>C	TOPMed,gnomAD
SIM2	Q14190	p.Gly75Cys	rs763647474	missense variant	-	NC_000021.9:g.36709215G>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly75Arg	rs763647474	missense variant	-	NC_000021.9:g.36709215G>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly75Ser	rs763647474	missense variant	-	NC_000021.9:g.36709215G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val76Asp	rs142133183	missense variant	-	NC_000021.9:g.36709219T>A	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val76Ile	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36709218G>A	NCI-TCGA
SIM2	Q14190	p.Lys78Gln	rs1367653471	missense variant	-	NC_000021.9:g.36709224A>C	gnomAD
SIM2	Q14190	p.Lys78Ter	rs1367653471	stop gained	-	NC_000021.9:g.36709224A>T	gnomAD
SIM2	Q14190	p.Gly81Glu	rs1274075598	missense variant	-	NC_000021.9:g.36709234G>A	gnomAD
SIM2	Q14190	p.Ser82Leu	rs1345607588	missense variant	-	NC_000021.9:g.36709237C>T	gnomAD
SIM2	Q14190	p.His83Asn	rs752137271	missense variant	-	NC_000021.9:g.36709239C>A	ExAC
SIM2	Q14190	p.His83Arg	rs755375895	missense variant	-	NC_000021.9:g.36709240A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Leu85Pro	rs781731325	missense variant	-	NC_000021.9:g.36709246T>C	ExAC
SIM2	Q14190	p.Gln86His	rs748384671	missense variant	-	NC_000021.9:g.36709250G>T	ExAC
SIM2	Q14190	p.Asp89Val	rs747941536	missense variant	-	NC_000021.9:g.36712540A>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly90Glu	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36712543G>A	NCI-TCGA
SIM2	Q14190	p.Phe91Ile	COSM478565	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36712545T>A	NCI-TCGA Cosmic
SIM2	Q14190	p.Val94Leu	rs1341893810	missense variant	-	NC_000021.9:g.36712554G>T	TOPMed
SIM2	Q14190	p.Ala96Pro	rs1315885122	missense variant	-	NC_000021.9:g.36712560G>C	TOPMed
SIM2	Q14190	p.Ser97Phe	COSM5103626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36712564C>T	NCI-TCGA Cosmic
SIM2	Q14190	p.Gly99Ala	rs570978064	missense variant	-	NC_000021.9:g.36712570G>C	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ile101Thr	rs761310285	missense variant	-	NC_000021.9:g.36712576T>C	ExAC,gnomAD
SIM2	Q14190	p.Ile101Val	rs775828168	missense variant	-	NC_000021.9:g.36712575A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ile101Leu	rs775828168	missense variant	-	NC_000021.9:g.36712575A>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Met102Leu	rs764355156	missense variant	-	NC_000021.9:g.36712578A>T	ExAC,gnomAD
SIM2	Q14190	p.Met102Ile	rs754146896	missense variant	-	NC_000021.9:g.36712580G>A	ExAC,gnomAD
SIM2	Q14190	p.Glu106Lys	rs750669602	missense variant	-	NC_000021.9:g.36712590G>A	ExAC,gnomAD
SIM2	Q14190	p.Ala108Thr	rs780226998	missense variant	-	NC_000021.9:g.36712596G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser109Phe	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36712600C>T	NCI-TCGA
SIM2	Q14190	p.His111Gln	rs1245214424	missense variant	-	NC_000021.9:g.36712607T>G	gnomAD
SIM2	Q14190	p.His111Tyr	rs1162744955	missense variant	-	NC_000021.9:g.36712605C>T	TOPMed
SIM2	Q14190	p.Gly113Cys	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36712611G>T	NCI-TCGA
SIM2	Q14190	p.Leu114Val	rs1473215574	missense variant	-	NC_000021.9:g.36712614T>G	TOPMed
SIM2	Q14190	p.Ser115Pro	rs754882963	missense variant	-	NC_000021.9:g.36712617T>C	ExAC,gnomAD
SIM2	Q14190	p.Val117Gly	rs201508401	missense variant	-	NC_000021.9:g.36719822T>G	ExAC,gnomAD
SIM2	Q14190	p.Glu118Ala	rs367706494	missense variant	-	NC_000021.9:g.36719825A>C	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Glu118Gly	rs367706494	missense variant	-	NC_000021.9:g.36719825A>G	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Thr120Lys	rs748878245	missense variant	-	NC_000021.9:g.36719831C>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Thr120Met	rs748878245	missense variant	-	NC_000021.9:g.36719831C>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly121Ser	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36719833G>A	NCI-TCGA
SIM2	Q14190	p.Asn122Ser	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36719837A>G	NCI-TCGA
SIM2	Q14190	p.Ser123Asn	rs377259454	missense variant	-	NC_000021.9:g.36719840G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser123Thr	rs377259454	missense variant	-	NC_000021.9:g.36719840G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ile124Met	rs1466628189	missense variant	-	NC_000021.9:g.36719844T>G	gnomAD
SIM2	Q14190	p.Tyr127Ter	rs1380093088	stop gained	-	NC_000021.9:g.36719853C>A	TOPMed
SIM2	Q14190	p.Ser131Cys	rs1363326518	missense variant	-	NC_000021.9:g.36719864C>G	gnomAD
SIM2	Q14190	p.Ser131Tyr	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36719864C>A	NCI-TCGA
SIM2	Q14190	p.Asp132Glu	rs770143168	missense variant	-	NC_000021.9:g.36719868C>A	ExAC,gnomAD
SIM2	Q14190	p.Asp134Glu	rs143502924	missense variant	-	NC_000021.9:g.36719874T>A	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asp134Glu	rs143502924	missense variant	-	NC_000021.9:g.36719874T>G	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asp134Asn	rs149282278	missense variant	-	NC_000021.9:g.36719872G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Glu135Gly	rs1370048859	missense variant	-	NC_000021.9:g.36719876A>G	TOPMed
SIM2	Q14190	p.Met136Ile	rs1426867988	missense variant	-	NC_000021.9:g.36719880G>A	TOPMed
SIM2	Q14190	p.Met136Val	rs137857829	missense variant	-	NC_000021.9:g.36719878A>G	ESP,ExAC,gnomAD
SIM2	Q14190	p.Thr137Pro	rs767744188	missense variant	-	NC_000021.9:g.36719881A>C	ExAC,gnomAD
SIM2	Q14190	p.Thr137Ser	rs1204988525	missense variant	-	NC_000021.9:g.36719882C>G	gnomAD
SIM2	Q14190	p.Thr137Ala	rs767744188	missense variant	-	NC_000021.9:g.36719881A>G	ExAC,gnomAD
SIM2	Q14190	p.Ala138Thr	rs565925240	missense variant	-	NC_000021.9:g.36719884G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val139Leu	rs1188344982	missense variant	-	NC_000021.9:g.36719887G>C	TOPMed,gnomAD
SIM2	Q14190	p.Val139Ile	rs1188344982	missense variant	-	NC_000021.9:g.36719887G>A	TOPMed,gnomAD
SIM2	Q14190	p.Leu140Phe	rs764141721	missense variant	-	NC_000021.9:g.36719890C>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Thr141Pro	rs757035784	missense variant	-	NC_000021.9:g.36719893A>C	ExAC
SIM2	Q14190	p.Thr141Met	rs142378405	missense variant	-	NC_000021.9:g.36719894C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala142Pro	rs757876159	missense variant	-	NC_000021.9:g.36719896G>C	ExAC,gnomAD
SIM2	Q14190	p.Ala142Gly	rs748644588	missense variant	-	NC_000021.9:g.36719897C>G	ExAC,gnomAD
SIM2	Q14190	p.Ala142Ser	rs757876159	missense variant	-	NC_000021.9:g.36719896G>T	ExAC,gnomAD
SIM2	Q14190	p.Ala142Thr	rs757876159	missense variant	-	NC_000021.9:g.36719896G>A	ExAC,gnomAD
SIM2	Q14190	p.His143Pro	rs201841801	missense variant	-	NC_000021.9:g.36719900A>C	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.His143Arg	rs201841801	missense variant	-	NC_000021.9:g.36719900A>G	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro145Leu	rs1035614454	missense variant	-	NC_000021.9:g.36719906C>T	TOPMed,gnomAD
SIM2	Q14190	p.His149Asp	rs767691379	missense variant	-	NC_000021.9:g.36719917C>G	ExAC,gnomAD
SIM2	Q14190	p.Tyr154Cys	rs201840539	missense variant	-	NC_000021.9:g.36723048A>G	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Tyr154His	rs1360684127	missense variant	-	NC_000021.9:g.36723047T>C	gnomAD
SIM2	Q14190	p.Glu155Lys	rs757646652	missense variant	-	NC_000021.9:g.36723050G>A	ExAC,gnomAD
SIM2	Q14190	p.Ile156Thr	rs374780734	missense variant	-	NC_000021.9:g.36723054T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg158Lys	rs899930382	missense variant	-	NC_000021.9:g.36723060G>A	TOPMed,gnomAD
SIM2	Q14190	p.Arg158Met	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36723060G>T	NCI-TCGA
SIM2	Q14190	p.Ser159Ter	NCI-TCGA novel	stop gained	-	NC_000021.9:g.36723063C>A	NCI-TCGA
SIM2	Q14190	p.Phe160Leu	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36723067C>G	NCI-TCGA
SIM2	Q14190	p.Leu162Pro	rs1484555319	missense variant	-	NC_000021.9:g.36723072T>C	TOPMed
SIM2	Q14190	p.Arg163Gln	rs772587660	missense variant	-	NC_000021.9:g.36723075G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg163Ter	rs932657270	stop gained	-	NC_000021.9:g.36723074C>T	TOPMed,gnomAD
SIM2	Q14190	p.Met164Ile	COSM2844703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36723079G>A	NCI-TCGA Cosmic
SIM2	Q14190	p.Lys165Arg	rs201182592	missense variant	-	NC_000021.9:g.36723081A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Cys166Arg	rs747276342	missense variant	-	NC_000021.9:g.36723083T>C	ExAC,gnomAD
SIM2	Q14190	p.Val167Ile	rs568706800	missense variant	-	NC_000021.9:g.36723086G>A	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Val167Ala	rs1389505178	missense variant	-	NC_000021.9:g.36723087T>C	gnomAD
SIM2	Q14190	p.Leu168Ser	rs761970365	missense variant	-	NC_000021.9:g.36723090T>C	ExAC,gnomAD
SIM2	Q14190	p.Ala169Val	rs1047468740	missense variant	-	NC_000021.9:g.36723093C>T	gnomAD
SIM2	Q14190	p.Ala169Thr	COSM140283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36723092G>A	NCI-TCGA Cosmic
SIM2	Q14190	p.Arg171Gly	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36723098A>G	NCI-TCGA
SIM2	Q14190	p.Asn172Ile	rs865950932	missense variant	-	NC_000021.9:g.36723102A>T	gnomAD
SIM2	Q14190	p.Asn172Ser	rs865950932	missense variant	-	NC_000021.9:g.36723102A>G	gnomAD
SIM2	Q14190	p.Ala173Thr	rs1295789267	missense variant	-	NC_000021.9:g.36723104G>A	gnomAD
SIM2	Q14190	p.Ala173Val	rs1289190977	missense variant	-	NC_000021.9:g.36723105C>T	TOPMed
SIM2	Q14190	p.Gly174Ser	rs1228880327	missense variant	-	NC_000021.9:g.36723107G>A	gnomAD
SIM2	Q14190	p.Cys177Tyr	rs751205898	missense variant	-	NC_000021.9:g.36723117G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Cys177Arg	rs1405064571	missense variant	-	NC_000021.9:g.36723116T>C	gnomAD
SIM2	Q14190	p.Gly179Glu	rs1435825728	missense variant	-	NC_000021.9:g.36723123G>A	TOPMed
SIM2	Q14190	p.Gly179Arg	rs767211557	missense variant	-	NC_000021.9:g.36723122G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Tyr180His	rs1264024174	missense variant	-	NC_000021.9:g.36723125T>C	gnomAD
SIM2	Q14190	p.Lys181Glu	rs1462785003	missense variant	-	NC_000021.9:g.36723128A>G	gnomAD
SIM2	Q14190	p.Val182Ile	rs777886477	missense variant	-	NC_000021.9:g.36726119G>A	ExAC,gnomAD
SIM2	Q14190	p.Tyr188Ter	rs770786806	stop gained	-	NC_000021.9:g.36726139C>A	ExAC,gnomAD
SIM2	Q14190	p.Lys190Asn	COSM1030546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726145G>T	NCI-TCGA Cosmic
SIM2	Q14190	p.Lys190Arg	rs1261784778	missense variant	-	NC_000021.9:g.36726144A>G	TOPMed
SIM2	Q14190	p.Arg192Gly	rs774302700	missense variant	-	NC_000021.9:g.36726149A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gln193Pro	rs745602000	missense variant	-	NC_000021.9:g.36726153A>C	ExAC,gnomAD
SIM2	Q14190	p.Gln193Leu	rs745602000	missense variant	-	NC_000021.9:g.36726153A>T	ExAC,gnomAD
SIM2	Q14190	p.Gln193Lys	rs1378244994	missense variant	-	NC_000021.9:g.36726152C>A	gnomAD
SIM2	Q14190	p.Tyr194His	rs201356831	missense variant	-	NC_000021.9:g.36726155T>C	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Met195Ile	rs760445487	missense variant	-	NC_000021.9:g.36726160G>A	ExAC,gnomAD
SIM2	Q14190	p.Leu196Pro	rs761416114	missense variant	-	NC_000021.9:g.36726162T>C	ExAC,gnomAD
SIM2	Q14190	p.Leu196Met	rs573180823	missense variant	-	NC_000021.9:g.36726161C>A	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asp197Val	rs752152751	missense variant	-	NC_000021.9:g.36726165A>T	ExAC,gnomAD
SIM2	Q14190	p.Met198Leu	COSM1327410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726167A>T	NCI-TCGA Cosmic
SIM2	Q14190	p.Met198Val	rs938510273	missense variant	-	NC_000021.9:g.36726167A>G	gnomAD
SIM2	Q14190	p.Ser199Ala	rs761234368	missense variant	-	NC_000021.9:g.36726170T>G	TOPMed,gnomAD
SIM2	Q14190	p.Ser199Tyr	rs541928590	missense variant	-	NC_000021.9:g.36726171C>A	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Asp202Asn	rs375950373	missense variant	-	NC_000021.9:g.36726179G>A	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser203Thr	rs1385625061	missense variant	-	NC_000021.9:g.36726182T>A	TOPMed
SIM2	Q14190	p.Gln206Arg	rs1455411407	missense variant	-	NC_000021.9:g.36726192A>G	TOPMed
SIM2	Q14190	p.Ile207Thr	rs777973757	missense variant	-	NC_000021.9:g.36726195T>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val208Glu	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36726198T>A	NCI-TCGA
SIM2	Q14190	p.Val211Met	rs749326131	missense variant	-	NC_000021.9:g.36726206G>A	ExAC,gnomAD
SIM2	Q14190	p.Ala212Val	COSM1414007	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726210C>T	NCI-TCGA Cosmic
SIM2	Q14190	p.Ala212Thr	rs1162991221	missense variant	-	NC_000021.9:g.36726209G>A	TOPMed
SIM2	Q14190	p.Val213Met	rs942172911	missense variant	-	NC_000021.9:g.36726212G>A	TOPMed,gnomAD
SIM2	Q14190	p.Val213Ala	rs1029180457	missense variant	-	NC_000021.9:g.36726213T>C	gnomAD
SIM2	Q14190	p.Gly214Arg	rs745858446	missense variant	-	NC_000021.9:g.36726215G>C	ExAC,gnomAD
SIM2	Q14190	p.Gln215Arg	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36726219A>G	NCI-TCGA
SIM2	Q14190	p.Gln215His	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36726220G>C	NCI-TCGA
SIM2	Q14190	p.Ser216Leu	rs779960078	missense variant	-	NC_000021.9:g.36726222C>T	ExAC,TOPMed
SIM2	Q14190	p.Leu217Pro	rs1255017802	missense variant	-	NC_000021.9:g.36726225T>C	TOPMed,gnomAD
SIM2	Q14190	p.Ala221Thr	COSM4101484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726236G>A	NCI-TCGA Cosmic
SIM2	Q14190	p.Ala221Val	rs1387652133	missense variant	-	NC_000021.9:g.36726237C>T	gnomAD
SIM2	Q14190	p.Ile222Met	rs1428314448	missense variant	-	NC_000021.9:g.36726241C>G	gnomAD
SIM2	Q14190	p.Ile222Val	rs938377276	missense variant	-	NC_000021.9:g.36726239A>G	TOPMed
SIM2	Q14190	p.Thr223Ile	rs1246046128	missense variant	-	NC_000021.9:g.36726243C>T	TOPMed
SIM2	Q14190	p.Glu224Lys	rs891443962	missense variant	-	NC_000021.9:g.36726245G>A	TOPMed,gnomAD
SIM2	Q14190	p.Glu224Ter	rs891443962	stop gained	-	NC_000021.9:g.36726245G>T	TOPMed,gnomAD
SIM2	Q14190	p.Ile225Met	rs1405574522	missense variant	-	NC_000021.9:g.36726250C>G	gnomAD
SIM2	Q14190	p.Ile225Val	rs1301359833	missense variant	-	NC_000021.9:g.36726248A>G	TOPMed,gnomAD
SIM2	Q14190	p.Tyr228Cys	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36726258A>G	NCI-TCGA
SIM2	Q14190	p.Ser229Gly	rs769465266	missense variant	-	NC_000021.9:g.36726260A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asn230Tyr	rs1403085582	missense variant	-	NC_000021.9:g.36726263A>T	TOPMed
SIM2	Q14190	p.Met231Ile	rs1364860728	missense variant	-	NC_000021.9:g.36726268G>A	TOPMed
SIM2	Q14190	p.Met231Thr	rs1433696054	missense variant	-	NC_000021.9:g.36726267T>C	gnomAD
SIM2	Q14190	p.Phe232Leu	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36726271C>G	NCI-TCGA
SIM2	Q14190	p.Met233Thr	rs760145034	missense variant	-	NC_000021.9:g.36726273T>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Met233Leu	rs1282176012	missense variant	-	NC_000021.9:g.36726272A>C	TOPMed,gnomAD
SIM2	Q14190	p.Phe234Leu	rs374786343	missense variant	-	NC_000021.9:g.36726277C>G	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg235Thr	rs753037602	missense variant	-	NC_000021.9:g.36726279G>C	ExAC,gnomAD
SIM2	Q14190	p.Ala236Thr	rs1166311261	missense variant	-	NC_000021.9:g.36726281G>A	TOPMed
SIM2	Q14190	p.Ser237Gly	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36726284A>G	NCI-TCGA
SIM2	Q14190	p.Leu240Pro	rs962246418	missense variant	-	NC_000021.9:g.36726294T>C	-
SIM2	Q14190	p.Lys241Gln	rs1475293979	missense variant	-	NC_000021.9:g.36726296A>C	TOPMed
SIM2	Q14190	p.Phe244Leu	rs1461449573	missense variant	-	NC_000021.9:g.36726307C>G	gnomAD
SIM2	Q14190	p.Phe244Leu	rs1461449573	missense variant	-	NC_000021.9:g.36726307C>A	gnomAD
SIM2	Q14190	p.Asp246Asn	COSM3550560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36726311G>A	NCI-TCGA Cosmic
SIM2	Q14190	p.Ser247Cys	rs764251505	missense variant	-	NC_000021.9:g.36726315C>G	ExAC,gnomAD
SIM2	Q14190	p.Arg248Gly	rs754108387	missense variant	-	NC_000021.9:g.36726317A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg248Trp	rs754108387	missense variant	-	NC_000021.9:g.36726317A>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val249Leu	rs775954129	missense variant	-	NC_000021.9:g.36731046G>T	ExAC,gnomAD
SIM2	Q14190	p.Thr250Ala	rs1223592964	missense variant	-	NC_000021.9:g.36731049A>G	gnomAD
SIM2	Q14190	p.Thr250Ser	rs1285314157	missense variant	-	NC_000021.9:g.36731050C>G	gnomAD
SIM2	Q14190	p.Glu251Lys	rs776912680	missense variant	-	NC_000021.9:g.36731052G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Glu251Gln	rs776912680	missense variant	-	NC_000021.9:g.36731052G>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val252Met	rs1448088980	missense variant	-	NC_000021.9:g.36731055G>A	TOPMed
SIM2	Q14190	p.Thr253Arg	rs534777844	missense variant	-	NC_000021.9:g.36731059C>G	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Thr253Ser	rs1268770875	missense variant	-	NC_000021.9:g.36731058A>T	gnomAD
SIM2	Q14190	p.Thr253Met	rs534777844	missense variant	-	NC_000021.9:g.36731059C>T	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Tyr255Cys	rs763053811	missense variant	-	NC_000021.9:g.36731065A>G	ExAC,gnomAD
SIM2	Q14190	p.Glu256Asp	rs376029267	missense variant	-	NC_000021.9:g.36731069G>C	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Glu256Lys	rs1409972625	missense variant	-	NC_000021.9:g.36731067G>A	gnomAD
SIM2	Q14190	p.Pro257Leu	rs554792457	missense variant	-	NC_000021.9:g.36731071C>T	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Glu262Lys	rs748943381	missense variant	-	NC_000021.9:g.36731085G>A	ExAC,gnomAD
SIM2	Q14190	p.Lys263Gln	rs1431119307	missense variant	-	NC_000021.9:g.36731088A>C	TOPMed
SIM2	Q14190	p.Lys263Asn	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36731090G>T	NCI-TCGA
SIM2	Q14190	p.Thr264Ala	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36731091A>G	NCI-TCGA
SIM2	Q14190	p.His267Tyr	rs1376044923	missense variant	-	NC_000021.9:g.36731100C>T	gnomAD
SIM2	Q14190	p.His268Gln	rs150823127	missense variant	-	NC_000021.9:g.36731105C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly271Asp	rs1270884705	missense variant	-	NC_000021.9:g.36731113G>A	gnomAD
SIM2	Q14190	p.Gly271Ser	rs769091808	missense variant	-	NC_000021.9:g.36731112G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Cys272Trp	rs777141819	missense variant	-	NC_000021.9:g.36731117C>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asp273Asn	rs1234789275	missense variant	-	NC_000021.9:g.36731118G>A	TOPMed,gnomAD
SIM2	Q14190	p.Val274Met	rs773456534	missense variant	-	NC_000021.9:g.36731121G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.His276Tyr	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36731127C>T	NCI-TCGA
SIM2	Q14190	p.Leu277Ile	rs1446300002	missense variant	-	NC_000021.9:g.36731130C>A	gnomAD
SIM2	Q14190	p.Arg278Ser	rs368622558	missense variant	-	NC_000021.9:g.36731133C>A	ESP,TOPMed,gnomAD
SIM2	Q14190	p.Arg278Cys	rs368622558	missense variant	-	NC_000021.9:g.36731133C>T	ESP,TOPMed,gnomAD
SIM2	Q14190	p.Arg278His	rs199502401	missense variant	-	NC_000021.9:g.36731134G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Tyr279His	rs774518103	missense variant	-	NC_000021.9:g.36731136T>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Tyr279Asn	rs774518103	missense variant	-	NC_000021.9:g.36731136T>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala280Thr	rs1357031105	missense variant	-	NC_000021.9:g.36731139G>A	TOPMed,gnomAD
SIM2	Q14190	p.His281Asp	rs1305415601	missense variant	-	NC_000021.9:g.36731142C>G	TOPMed
SIM2	Q14190	p.His282Gln	rs767523762	missense variant	-	NC_000021.9:g.36731147C>A	ExAC,gnomAD
SIM2	Q14190	p.Val286Met	rs1447452029	missense variant	-	NC_000021.9:g.36741722G>A	gnomAD
SIM2	Q14190	p.Val286Leu	rs1447452029	missense variant	-	NC_000021.9:g.36741722G>C	gnomAD
SIM2	Q14190	p.Tyr294Ter	rs1266229494	stop gained	-	NC_000021.9:g.36741748C>A	gnomAD
SIM2	Q14190	p.Tyr294Ser	rs771464885	missense variant	-	NC_000021.9:g.36741747A>C	ExAC,gnomAD
SIM2	Q14190	p.Tyr295Cys	rs779257112	missense variant	-	NC_000021.9:g.36741750A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg296Trp	rs746151538	missense variant	-	NC_000021.9:g.36741752C>T	ExAC,gnomAD
SIM2	Q14190	p.Arg296Gln	rs1487720374	missense variant	-	NC_000021.9:g.36741753G>A	TOPMed
SIM2	Q14190	p.Arg301Gln	rs766826389	missense variant	-	NC_000021.9:g.36741768G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg301Trp	rs772274383	missense variant	-	NC_000021.9:g.36741767C>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Trp304Ter	rs776659612	stop gained	-	NC_000021.9:g.36741777G>A	ExAC,gnomAD
SIM2	Q14190	p.Trp304Cys	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36741778G>C	NCI-TCGA
SIM2	Q14190	p.Val305Leu	rs375381716	missense variant	-	NC_000021.9:g.36741779G>T	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Trp306Arg	rs750059338	missense variant	-	NC_000021.9:g.36741782T>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gln308His	rs1295196712	missense variant	-	NC_000021.9:g.36741790G>C	TOPMed
SIM2	Q14190	p.Ala311Val	rs201982331	missense variant	-	NC_000021.9:g.36741798C>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala311Thr	rs766072259	missense variant	-	NC_000021.9:g.36741797G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Thr312Ile	rs1259861687	missense variant	-	NC_000021.9:g.36741801C>T	gnomAD
SIM2	Q14190	p.Val313Met	rs764479895	missense variant	-	NC_000021.9:g.36741803G>A	ExAC,gnomAD
SIM2	Q14190	p.Val313Ala	rs1289473098	missense variant	-	NC_000021.9:g.36741804T>C	gnomAD
SIM2	Q14190	p.His315Gln	rs754419348	missense variant	-	NC_000021.9:g.36741811C>A	ExAC,gnomAD
SIM2	Q14190	p.Asn316Asp	rs779487146	missense variant	-	NC_000021.9:g.36741812A>G	ExAC,gnomAD
SIM2	Q14190	p.Asn316Thr	rs78651590	missense variant	-	NC_000021.9:g.36741813A>C	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asn316Ser	rs78651590	missense variant	-	NC_000021.9:g.36741813A>G	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg318Cys	rs780343591	missense variant	-	NC_000021.9:g.36741818C>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg318His	rs747018347	missense variant	-	NC_000021.9:g.36741819G>A	ExAC,gnomAD
SIM2	Q14190	p.Ser319Leu	rs1363642053	missense variant	-	NC_000021.9:g.36741822C>T	TOPMed,gnomAD
SIM2	Q14190	p.Ser320Phe	rs1161017750	missense variant	-	NC_000021.9:g.36741825C>T	TOPMed,gnomAD
SIM2	Q14190	p.Arg321Trp	rs1364208218	missense variant	-	NC_000021.9:g.36741827C>T	gnomAD
SIM2	Q14190	p.Arg321Gln	rs373021150	missense variant	-	NC_000021.9:g.36741828G>A	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.His323Pro	rs964410199	missense variant	-	NC_000021.9:g.36741834A>C	TOPMed,gnomAD
SIM2	Q14190	p.Cys324Arg	rs1389950972	missense variant	-	NC_000021.9:g.36741836T>C	gnomAD
SIM2	Q14190	p.Val326Met	rs748137714	missense variant	-	NC_000021.9:g.36741842G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser327Asn	rs1336176002	missense variant	-	NC_000021.9:g.36741846G>A	gnomAD
SIM2	Q14190	p.Val328Ile	rs200483038	missense variant	-	NC_000021.9:g.36741848G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val328Phe	rs200483038	missense variant	-	NC_000021.9:g.36741848G>T	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val331Ile	rs765910455	missense variant	-	NC_000021.9:g.36741857G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Thr333Ala	rs1342673232	missense variant	-	NC_000021.9:g.36741863A>G	gnomAD
SIM2	Q14190	p.Thr333Met	rs1275137940	missense variant	-	NC_000021.9:g.36741864C>T	TOPMed
SIM2	Q14190	p.Glu334Gly	rs760284642	missense variant	-	NC_000021.9:g.36743389A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Glu334Lys	rs143650216	missense variant	-	NC_000021.9:g.36743388G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ile335Thr	rs1041692765	missense variant	-	NC_000021.9:g.36743392T>C	TOPMed,gnomAD
SIM2	Q14190	p.Leu340Phe	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36743406C>T	NCI-TCGA
SIM2	Q14190	p.Ser343Tyr	COSM6161342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36743416C>A	NCI-TCGA Cosmic
SIM2	Q14190	p.Glu345Lys	rs751005705	missense variant	-	NC_000021.9:g.36743421G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Glu345Gly	rs763202037	missense variant	-	NC_000021.9:g.36743422A>G	ExAC,gnomAD
SIM2	Q14190	p.Val347Leu	rs766822804	missense variant	-	NC_000021.9:g.36743427G>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val347Met	rs766822804	missense variant	-	NC_000021.9:g.36743427G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Thr349Ile	rs755157848	missense variant	-	NC_000021.9:g.36743434C>T	ExAC,gnomAD
SIM2	Q14190	p.Ala350Val	rs1359721146	missense variant	-	NC_000021.9:g.36743437C>T	gnomAD
SIM2	Q14190	p.Lys351Asn	rs968039267	missense variant	-	NC_000021.9:g.36743441G>C	TOPMed,gnomAD
SIM2	Q14190	p.Gln353Pro	rs756229321	missense variant	-	NC_000021.9:g.36743446A>C	ExAC,gnomAD
SIM2	Q14190	p.Gln353Arg	rs756229321	missense variant	-	NC_000021.9:g.36743446A>G	ExAC,gnomAD
SIM2	Q14190	p.Asp354Asn	rs570532752	missense variant	-	NC_000021.9:g.36743448G>A	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Ser355Phe	COSM1647443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36743452C>T	NCI-TCGA Cosmic
SIM2	Q14190	p.Ala359Thr	rs893870730	missense variant	-	NC_000021.9:g.36743463G>A	TOPMed
SIM2	Q14190	p.Ser361Pro	rs745663760	missense variant	-	NC_000021.9:g.36743469T>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser363Leu	rs771705646	missense variant	-	NC_000021.9:g.36743476C>T	ExAC,gnomAD
SIM2	Q14190	p.Glu365Ala	rs768329415	missense variant	-	NC_000021.9:g.36743482A>C	ExAC,gnomAD
SIM2	Q14190	p.Glu365Gln	rs760229622	missense variant	-	NC_000021.9:g.36743481G>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg367Thr	rs1470146066	missense variant	-	NC_000021.9:g.36743488G>C	gnomAD
SIM2	Q14190	p.Lys368Asn	COSM4840683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36743492A>C	NCI-TCGA Cosmic
SIM2	Q14190	p.Leu369Val	rs763580102	missense variant	-	NC_000021.9:g.36743493T>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Leu369Ser	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36743494T>C	NCI-TCGA
SIM2	Q14190	p.Lys371Asn	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36743501A>C	NCI-TCGA
SIM2	Q14190	p.Asn374His	rs957792035	missense variant	-	NC_000021.9:g.36743508A>C	gnomAD
SIM2	Q14190	p.Lys380Gln	rs140977260	missense variant	-	NC_000021.9:g.36743526A>C	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Lys380Glu	rs140977260	missense variant	-	NC_000021.9:g.36743526A>G	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Arg382Ser	rs1341886759	missense variant	-	NC_000021.9:g.36743534A>C	gnomAD
SIM2	Q14190	p.Asn384Ser	rs767698678	missense variant	-	NC_000021.9:g.36743539A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro385Arg	rs985203326	missense variant	-	NC_000021.9:g.36743542C>G	TOPMed,gnomAD
SIM2	Q14190	p.Pro385Ser	rs1230643040	missense variant	-	NC_000021.9:g.36743541C>T	TOPMed,gnomAD
SIM2	Q14190	p.Pro387Ser	rs1204764843	missense variant	-	NC_000021.9:g.36743547C>T	TOPMed
SIM2	Q14190	p.Pro387Leu	rs1439408905	missense variant	-	NC_000021.9:g.36743548C>T	TOPMed
SIM2	Q14190	p.Pro388Ser	rs1281252154	missense variant	-	NC_000021.9:g.36743550C>T	TOPMed,gnomAD
SIM2	Q14190	p.Pro388Ala	rs1281252154	missense variant	-	NC_000021.9:g.36743550C>G	TOPMed,gnomAD
SIM2	Q14190	p.Pro388Arg	rs370355073	missense variant	-	NC_000021.9:g.36743551C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro388Leu	rs370355073	missense variant	-	NC_000021.9:g.36743551C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro388Gln	rs370355073	missense variant	-	NC_000021.9:g.36743551C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gln389Lys	rs753867260	missense variant	-	NC_000021.9:g.36743553C>A	ExAC,gnomAD
SIM2	Q14190	p.Gln390His	rs747667163	missense variant	-	NC_000021.9:g.36744730A>C	ExAC
SIM2	Q14190	p.Ser392Gly	rs564301769	missense variant	-	NC_000021.9:g.36744734A>G	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Ser393Leu	rs151185181	missense variant	-	NC_000021.9:g.36744738C>T	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser393Pro	rs774911548	missense variant	-	NC_000021.9:g.36744737T>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Phe394Ser	COSM4913292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36744741T>C	NCI-TCGA Cosmic
SIM2	Q14190	p.Met396Thr	rs775774217	missense variant	-	NC_000021.9:g.36744747T>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asp397Asn	rs1353515472	missense variant	-	NC_000021.9:g.36744749G>A	gnomAD
SIM2	Q14190	p.Cys401Arg	rs957666381	missense variant	-	NC_000021.9:g.36744761T>C	TOPMed,gnomAD
SIM2	Q14190	p.Cys401Gly	rs957666381	missense variant	-	NC_000021.9:g.36744761T>G	TOPMed,gnomAD
SIM2	Q14190	p.Gly402Ser	rs776757125	missense variant	-	NC_000021.9:g.36744764G>A	ExAC,gnomAD
SIM2	Q14190	p.Gly402Val	rs761929874	missense variant	-	NC_000021.9:g.36744765G>T	ExAC,gnomAD
SIM2	Q14190	p.Gly405Arg	rs375361689	missense variant	-	NC_000021.9:g.36744773G>C	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly405Arg	rs375361689	missense variant	-	NC_000021.9:g.36744773G>A	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asn406Lys	rs766430136	missense variant	-	NC_000021.9:g.36744778C>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Asn406Lys	rs766430136	missense variant	-	NC_000021.9:g.36744778C>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala409Val	rs751348193	missense variant	-	NC_000021.9:g.36744786C>T	ExAC,gnomAD
SIM2	Q14190	p.Ala413Thr	rs1182955642	missense variant	-	NC_000021.9:g.36744797G>A	gnomAD
SIM2	Q14190	p.Ser414Thr	rs976058926	missense variant	-	NC_000021.9:g.36744801G>C	TOPMed,gnomAD
SIM2	Q14190	p.Ser414Asn	rs976058926	missense variant	-	NC_000021.9:g.36744801G>A	TOPMed,gnomAD
SIM2	Q14190	p.Ser414Arg	rs747816999	missense variant	-	NC_000021.9:g.36744802C>A	ExAC,gnomAD
SIM2	Q14190	p.Ala415Thr	rs755648986	missense variant	-	NC_000021.9:g.36744803G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro418Leu	rs1410251792	missense variant	-	NC_000021.9:g.36744813C>T	gnomAD
SIM2	Q14190	p.Pro419Leu	rs1456866174	missense variant	-	NC_000021.9:g.36744816C>T	TOPMed
SIM2	Q14190	p.Glu420Lys	rs777081004	missense variant	-	NC_000021.9:g.36744818G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Leu421Met	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36744821C>A	NCI-TCGA
SIM2	Q14190	p.Gln422Ter	rs1402964340	stop gained	-	NC_000021.9:g.36744824C>T	gnomAD
SIM2	Q14190	p.Ser427Arg	rs1450865810	missense variant	-	NC_000021.9:g.36744839A>C	gnomAD
SIM2	Q14190	p.Asp429Gly	rs748810288	missense variant	-	NC_000021.9:g.36744846A>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Tyr432His	rs772521090	missense variant	-	NC_000021.9:g.36744854T>C	ExAC,gnomAD
SIM2	Q14190	p.Thr433Met	rs1268421048	missense variant	-	NC_000021.9:g.36744858C>T	gnomAD
SIM2	Q14190	p.Thr433Pro	rs780571062	missense variant	-	NC_000021.9:g.36744857A>C	ExAC,gnomAD
SIM2	Q14190	p.Pro434Ala	rs137945799	missense variant	-	NC_000021.9:g.36744860C>G	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro434Ser	rs137945799	missense variant	-	NC_000021.9:g.36744860C>T	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro434Gln	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36744861C>A	NCI-TCGA
SIM2	Q14190	p.Ser435Phe	rs768947989	missense variant	-	NC_000021.9:g.36744864C>T	ExAC,gnomAD
SIM2	Q14190	p.Ser437Arg	rs1202748404	missense variant	-	NC_000021.9:g.36744871C>A	gnomAD
SIM2	Q14190	p.Ser437Asn	rs776898056	missense variant	-	NC_000021.9:g.36744870G>A	ExAC,gnomAD
SIM2	Q14190	p.Pro439Ser	rs560307495	missense variant	-	NC_000021.9:g.36744875C>T	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Phe440Leu	rs1190933875	missense variant	-	NC_000021.9:g.36744880C>A	gnomAD
SIM2	Q14190	p.Tyr442His	rs770056060	missense variant	-	NC_000021.9:g.36744884T>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Tyr444Asp	rs773103692	missense variant	-	NC_000021.9:g.36744890T>G	ExAC,gnomAD
SIM2	Q14190	p.Tyr444Ter	rs763144430	stop gained	-	NC_000021.9:g.36744892C>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly445Arg	rs751598467	missense variant	-	NC_000021.9:g.36744893G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Gly445Glu	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36744894G>A	NCI-TCGA
SIM2	Q14190	p.His446Arg	rs759396897	missense variant	-	NC_000021.9:g.36744897A>G	ExAC,gnomAD
SIM2	Q14190	p.His446Gln	rs767285576	missense variant	-	NC_000021.9:g.36744898C>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Leu449Val	rs1269598342	missense variant	-	NC_000021.9:g.36744905C>G	TOPMed
SIM2	Q14190	p.Ser451Pro	rs1416715629	missense variant	-	NC_000021.9:g.36744911T>C	gnomAD
SIM2	Q14190	p.Val453Ala	rs777505968	missense variant	-	NC_000021.9:g.36744918T>C	ExAC,gnomAD
SIM2	Q14190	p.Val453Ile	rs1400648557	missense variant	-	NC_000021.9:g.36744917G>A	gnomAD
SIM2	Q14190	p.Phe454Leu	rs981471638	missense variant	-	NC_000021.9:g.36744922C>A	TOPMed
SIM2	Q14190	p.Phe454Leu	rs948687041	missense variant	-	NC_000021.9:g.36744920T>C	TOPMed
SIM2	Q14190	p.Ser455Asn	rs1343814434	missense variant	-	NC_000021.9:g.36744924G>A	gnomAD
SIM2	Q14190	p.Ser455Gly	rs1266268454	missense variant	-	NC_000021.9:g.36744923A>G	gnomAD
SIM2	Q14190	p.Ser456Asn	rs753307817	missense variant	-	NC_000021.9:g.36744927G>A	ExAC,gnomAD
SIM2	Q14190	p.Pro459Ser	rs1256440870	missense variant	-	NC_000021.9:g.36744935C>T	gnomAD
SIM2	Q14190	p.Met460Val	rs1203365837	missense variant	-	NC_000021.9:g.36744938A>G	gnomAD
SIM2	Q14190	p.Met460Ile	rs747573399	missense variant	-	NC_000021.9:g.36744940G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Met460Arg	rs780515558	missense variant	-	NC_000021.9:g.36744939T>G	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Leu461Ser	rs769059784	missense variant	-	NC_000021.9:g.36744942T>C	ExAC,gnomAD
SIM2	Q14190	p.Pro462Leu	rs781341610	missense variant	-	NC_000021.9:g.36744945C>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala463Asp	rs769858094	missense variant	-	NC_000021.9:g.36744948C>A	ExAC,gnomAD
SIM2	Q14190	p.Gly466Arg	rs200359415	missense variant	-	NC_000021.9:g.36744956G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro468Ser	rs1420401140	missense variant	-	NC_000021.9:g.36744962C>T	gnomAD
SIM2	Q14190	p.Gly470Arg	rs1413156612	missense variant	-	NC_000021.9:g.36744968G>A	gnomAD
SIM2	Q14190	p.Val475Met	rs1402868860	missense variant	-	NC_000021.9:g.36744983G>A	TOPMed,gnomAD
SIM2	Q14190	p.Val475Ala	rs1012551396	missense variant	-	NC_000021.9:g.36744984T>C	TOPMed
SIM2	Q14190	p.Ala476Val	rs774430209	missense variant	-	NC_000021.9:g.36744987C>T	ExAC,gnomAD
SIM2	Q14190	p.Arg477His	rs759483083	missense variant	-	NC_000021.9:g.36744990G>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg477Pro	rs759483083	missense variant	-	NC_000021.9:g.36744990G>C	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Arg477Cys	rs1045455758	missense variant	-	NC_000021.9:g.36744989C>T	TOPMed
SIM2	Q14190	p.Phe478Val	rs368057275	missense variant	-	NC_000021.9:g.36744992T>G	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Thr482Lys	rs746926522	missense variant	-	NC_000021.9:g.36745005C>A	ExAC,gnomAD
SIM2	Q14190	p.Leu483Met	rs2073601	missense variant	-	NC_000021.9:g.36745007C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro484Thr	rs753537362	missense variant	-	NC_000021.9:g.36745010C>A	ExAC,gnomAD
SIM2	Q14190	p.Ala485Val	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36745014C>T	NCI-TCGA
SIM2	Q14190	p.Gly487Ser	rs201708628	missense variant	-	NC_000021.9:g.36745019G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Glu488Gln	rs755379484	missense variant	-	NC_000021.9:g.36745022G>C	ExAC,gnomAD
SIM2	Q14190	p.His492Leu	rs748418447	missense variant	-	NC_000021.9:g.36745035A>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Tyr493Cys	rs1457441534	missense variant	-	NC_000021.9:g.36745038A>G	gnomAD
SIM2	Q14190	p.Asn495Lys	rs756553530	missense variant	-	NC_000021.9:g.36745045C>A	ExAC,gnomAD
SIM2	Q14190	p.Pro496Ala	rs1393081174	missense variant	-	NC_000021.9:g.36745046C>G	gnomAD
SIM2	Q14190	p.Leu497Ter	NCI-TCGA novel	frameshift	-	NC_000021.9:g.36745045C>-	NCI-TCGA
SIM2	Q14190	p.Val498Leu	rs1389474553	missense variant	-	NC_000021.9:g.36745052G>C	gnomAD
SIM2	Q14190	p.Ser500Gly	rs1017605435	missense variant	-	NC_000021.9:g.36745058A>G	gnomAD
SIM2	Q14190	p.Ser500Arg	rs1017605435	missense variant	-	NC_000021.9:g.36745058A>C	gnomAD
SIM2	Q14190	p.Ser501Asn	rs571774763	missense variant	-	NC_000021.9:g.36745062G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser502Leu	rs976047465	missense variant	-	NC_000021.9:g.36745065C>T	TOPMed
SIM2	Q14190	p.Ser503Tyr	COSM4845721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000021.9:g.36745068C>A	NCI-TCGA Cosmic
SIM2	Q14190	p.Ser503Thr	rs1008276838	missense variant	-	NC_000021.9:g.36745067T>A	TOPMed
SIM2	Q14190	p.Asn507Ser	rs774516027	missense variant	-	NC_000021.9:g.36745080A>G	ExAC,gnomAD
SIM2	Q14190	p.Pro508Leu	rs374048214	missense variant	-	NC_000021.9:g.36745083C>T	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro511Thr	rs367607207	missense variant	-	NC_000021.9:g.36745091C>A	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro511Ser	rs367607207	missense variant	-	NC_000021.9:g.36745091C>T	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro512Leu	rs144394618	missense variant	-	NC_000021.9:g.36745095C>T	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro512Gln	NCI-TCGA novel	missense variant	-	NC_000021.9:g.36745095C>A	NCI-TCGA
SIM2	Q14190	p.Ala513Val	rs761387486	missense variant	-	NC_000021.9:g.36745098C>T	ExAC,gnomAD
SIM2	Q14190	p.Ala513Thr	rs776261523	missense variant	-	NC_000021.9:g.36745097G>A	ExAC,gnomAD
SIM2	Q14190	p.Thr515Ile	rs548039650	missense variant	-	NC_000021.9:g.36745104C>T	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.His518Arg	rs201246885	missense variant	-	NC_000021.9:g.36745113A>G	ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ser519Asn	rs377180868	missense variant	-	NC_000021.9:g.36745116G>A	ESP,TOPMed
SIM2	Q14190	p.Leu520Val	rs199788000	missense variant	-	NC_000021.9:g.36745118C>G	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Val521Met	rs767876751	missense variant	-	NC_000021.9:g.36745121G>A	ExAC,gnomAD
SIM2	Q14190	p.Pro522Arg	rs1170219838	missense variant	-	NC_000021.9:g.36745125C>G	gnomAD
SIM2	Q14190	p.Ser523Thr	rs778635337	missense variant	-	NC_000021.9:g.36745128G>C	TOPMed
SIM2	Q14190	p.Ser523Asn	rs778635337	missense variant	-	NC_000021.9:g.36745128G>A	TOPMed
SIM2	Q14190	p.Glu525Lys	rs141533294	missense variant	-	NC_000021.9:g.36745133G>A	ESP,ExAC,gnomAD
SIM2	Q14190	p.Ala526Val	rs1332660171	missense variant	-	NC_000021.9:g.36747665C>T	TOPMed,gnomAD
SIM2	Q14190	p.Ala526Pro	rs201126287	missense variant	-	NC_000021.9:g.36745136G>C	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Ala526Thr	rs201126287	missense variant	-	NC_000021.9:g.36745136G>A	1000Genomes,ExAC,gnomAD
SIM2	Q14190	p.Ala528Thr	rs1445912992	missense variant	-	NC_000021.9:g.36747670G>A	gnomAD
SIM2	Q14190	p.Ala529Thr	rs1283739500	missense variant	-	NC_000021.9:g.36747673G>A	TOPMed,gnomAD
SIM2	Q14190	p.Val531Met	rs1357123420	missense variant	-	NC_000021.9:g.36747679G>A	TOPMed,gnomAD
SIM2	Q14190	p.Arg532Ser	rs1354133101	missense variant	-	NC_000021.9:g.36747682C>A	TOPMed
SIM2	Q14190	p.Arg533Lys	rs781082058	missense variant	-	NC_000021.9:g.36747686G>A	ExAC,gnomAD
SIM2	Q14190	p.Gly535Ser	rs1213609611	missense variant	-	NC_000021.9:g.36747691G>A	gnomAD
SIM2	Q14190	p.Gly535Val	rs1171900680	missense variant	-	NC_000021.9:g.36747692G>T	TOPMed
SIM2	Q14190	p.Gly535Asp	rs1171900680	missense variant	-	NC_000021.9:g.36747692G>A	TOPMed
SIM2	Q14190	p.Thr538Asn	rs748139645	missense variant	-	NC_000021.9:g.36747701C>A	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Thr538Ala	rs1256360732	missense variant	-	NC_000021.9:g.36747700A>G	gnomAD
SIM2	Q14190	p.Thr538Ile	rs748139645	missense variant	-	NC_000021.9:g.36747701C>T	ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ala539Thr	rs1198987612	missense variant	-	NC_000021.9:g.36747703G>A	gnomAD
SIM2	Q14190	p.Pro541Ala	rs1480136076	missense variant	-	NC_000021.9:g.36747709C>G	TOPMed
SIM2	Q14190	p.Ser542Asn	rs1440696534	missense variant	-	NC_000021.9:g.36747713G>A	gnomAD
SIM2	Q14190	p.Pro544Thr	rs1186737604	missense variant	-	NC_000021.9:g.36747718C>A	gnomAD
SIM2	Q14190	p.Ser545Gly	rs1237599578	missense variant	-	NC_000021.9:g.36747721A>G	gnomAD
SIM2	Q14190	p.Ser545Asn	rs962843194	missense variant	-	NC_000021.9:g.36747722G>A	TOPMed
SIM2	Q14190	p.His548Gln	rs1313078251	missense variant	-	NC_000021.9:g.36747732C>G	gnomAD
SIM2	Q14190	p.Arg550Cys	rs534725578	missense variant	-	NC_000021.9:g.36747736C>T	1000Genomes,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Pro553Thr	rs1461243539	missense variant	-	NC_000021.9:g.36747745C>A	gnomAD
SIM2	Q14190	p.Pro553His	rs1189825085	missense variant	-	NC_000021.9:g.36747746C>A	TOPMed,gnomAD
SIM2	Q14190	p.Ala554Thr	rs1389727869	missense variant	-	NC_000021.9:g.36747748G>A	TOPMed
SIM2	Q14190	p.Leu555Arg	rs868205238	missense variant	-	NC_000021.9:g.36747752T>G	TOPMed,gnomAD
SIM2	Q14190	p.Pro557Leu	rs1474501244	missense variant	-	NC_000021.9:g.36747758C>T	TOPMed,gnomAD
SIM2	Q14190	p.Pro557Ser	rs1404304390	missense variant	-	NC_000021.9:g.36747757C>T	TOPMed
SIM2	Q14190	p.Ala558Thr	rs1402897853	missense variant	-	NC_000021.9:g.36747760G>A	gnomAD
SIM2	Q14190	p.Ala560Pro	rs1379857938	missense variant	-	NC_000021.9:g.36747766G>C	TOPMed
SIM2	Q14190	p.Arg562Cys	rs1426145386	missense variant	-	NC_000021.9:g.36747772C>T	gnomAD
SIM2	Q14190	p.Ala564Thr	rs1417998855	missense variant	-	NC_000021.9:g.36747778G>A	TOPMed
SIM2	Q14190	p.Ala565Pro	rs189938535	missense variant	-	NC_000021.9:g.36747781G>C	1000Genomes,TOPMed,gnomAD
SIM2	Q14190	p.Ala565Ser	rs189938535	missense variant	-	NC_000021.9:g.36747781G>T	1000Genomes,TOPMed,gnomAD
SIM2	Q14190	p.Ala565Val	rs945492076	missense variant	-	NC_000021.9:g.36747782C>T	TOPMed,gnomAD
SIM2	Q14190	p.Asp567Ala	rs1435716357	missense variant	-	NC_000021.9:g.36747788A>C	gnomAD
SIM2	Q14190	p.Gly568Arg	rs1320271494	missense variant	-	NC_000021.9:g.36747790G>A	TOPMed,gnomAD
SIM2	Q14190	p.Ala569Gly	rs1258888022	missense variant	-	NC_000021.9:g.36747794C>G	TOPMed
SIM2	Q14190	p.Ala572Thr	rs1236976982	missense variant	-	NC_000021.9:g.36747802G>A	TOPMed
SIM2	Q14190	p.Leu573Pro	rs925001201	missense variant	-	NC_000021.9:g.36747806T>C	TOPMed,gnomAD
SIM2	Q14190	p.Arg575His	rs537108483	missense variant	-	NC_000021.9:g.36747812G>A	1000Genomes,TOPMed,gnomAD
SIM2	Q14190	p.Ala576Gly	rs1396962399	missense variant	-	NC_000021.9:g.36747815C>G	TOPMed
SIM2	Q14190	p.Pro578Arg	rs1039097295	missense variant	-	NC_000021.9:g.36747821C>G	TOPMed
SIM2	Q14190	p.Glu579Gln	rs1159894761	missense variant	-	NC_000021.9:g.36747823G>C	TOPMed
SIM2	Q14190	p.Cys580Arg	rs1442445915	missense variant	-	NC_000021.9:g.36747826T>C	TOPMed
SIM2	Q14190	p.Cys581Ser	rs1384203104	missense variant	-	NC_000021.9:g.36747830G>C	TOPMed
SIM2	Q14190	p.Ala582Pro	rs1188076889	missense variant	-	NC_000021.9:g.36747832G>C	TOPMed
SIM2	Q14190	p.Ala582Val	rs1219474614	missense variant	-	NC_000021.9:g.36747833C>T	TOPMed,gnomAD
SIM2	Q14190	p.Pro584Arg	rs997387034	missense variant	-	NC_000021.9:g.36747839C>G	TOPMed
SIM2	Q14190	p.Thr585Asn	rs1051594087	missense variant	-	NC_000021.9:g.36747842C>A	TOPMed
SIM2	Q14190	p.Thr585Ala	rs1206226416	missense variant	-	NC_000021.9:g.36747841A>G	gnomAD
SIM2	Q14190	p.Pro586Ser	rs867614668	missense variant	-	NC_000021.9:g.36747844C>T	TOPMed,gnomAD
SIM2	Q14190	p.Pro589Gln	rs1262020642	missense variant	-	NC_000021.9:g.36747854C>A	gnomAD
SIM2	Q14190	p.Ala591Gly	rs1342580088	missense variant	-	NC_000021.9:g.36747860C>G	TOPMed
SIM2	Q14190	p.Ala591Thr	rs1195377905	missense variant	-	NC_000021.9:g.36747859G>A	TOPMed,gnomAD
SIM2	Q14190	p.Pro592Arg	rs963103274	missense variant	-	NC_000021.9:g.36747863C>G	TOPMed
SIM2	Q14190	p.Ala593Val	rs1172534371	missense variant	-	NC_000021.9:g.36747866C>T	gnomAD
SIM2	Q14190	p.Ala593Thr	rs1477226134	missense variant	-	NC_000021.9:g.36747865G>A	gnomAD
SIM2	Q14190	p.Gln594Arg	rs1361704434	missense variant	-	NC_000021.9:g.36747869A>G	TOPMed
SIM2	Q14190	p.Leu595Val	rs1403471995	missense variant	-	NC_000021.9:g.36747871C>G	TOPMed,gnomAD
SIM2	Q14190	p.Leu595Met	rs1403471995	missense variant	-	NC_000021.9:g.36747871C>A	TOPMed,gnomAD
SIM2	Q14190	p.Phe597Cys	rs1436674402	missense variant	-	NC_000021.9:g.36747878T>G	gnomAD
SIM2	Q14190	p.Val598Leu	rs1481530554	missense variant	-	NC_000021.9:g.36747880G>C	gnomAD
SIM2	Q14190	p.Leu599Pro	rs1296498046	missense variant	-	NC_000021.9:g.36747884T>C	gnomAD
SIM2	Q14190	p.His603Asn	rs1400896757	missense variant	-	NC_000021.9:g.36747895C>A	gnomAD
SIM2	Q14190	p.His603Arg	rs1163418777	missense variant	-	NC_000021.9:g.36747896A>G	TOPMed
SIM2	Q14190	p.Arg604Ser	rs1280305205	missense variant	-	NC_000021.9:g.36747898C>A	gnomAD
SIM2	Q14190	p.Arg604Pro	rs1473667741	missense variant	-	NC_000021.9:g.36747899G>C	TOPMed
SIM2	Q14190	p.Ala607Pro	rs1428317629	missense variant	-	NC_000021.9:g.36747907G>C	gnomAD
SIM2	Q14190	p.Arg608Gln	rs992166681	missense variant	-	NC_000021.9:g.36747911G>A	TOPMed,gnomAD
SIM2	Q14190	p.Arg608Leu	rs992166681	missense variant	-	NC_000021.9:g.36747911G>T	TOPMed,gnomAD
SIM2	Q14190	p.Arg608Trp	rs959319142	missense variant	-	NC_000021.9:g.36747910C>T	TOPMed,gnomAD
SIM2	Q14190	p.Arg609Cys	rs1265234648	missense variant	-	NC_000021.9:g.36747913C>T	TOPMed
SIM2	Q14190	p.Pro611Leu	rs1232200191	missense variant	-	NC_000021.9:g.36747920C>T	TOPMed,gnomAD
SIM2	Q14190	p.Leu612Pro	rs1489861875	missense variant	-	NC_000021.9:g.36747923T>C	TOPMed
SIM2	Q14190	p.Gly613Arg	rs918144853	missense variant	-	NC_000021.9:g.36747925G>C	TOPMed,gnomAD
SIM2	Q14190	p.Gly613Ala	rs1227133167	missense variant	-	NC_000021.9:g.36747926G>C	TOPMed
SIM2	Q14190	p.Gly613Trp	rs918144853	missense variant	-	NC_000021.9:g.36747925G>T	TOPMed,gnomAD
SIM2	Q14190	p.Gly613Arg	rs918144853	missense variant	-	NC_000021.9:g.36747925G>A	TOPMed,gnomAD
SIM2	Q14190	p.Gly614Val	rs1341749650	missense variant	-	NC_000021.9:g.36747929G>T	TOPMed
SIM2	Q14190	p.Ala616Thr	rs111672468	missense variant	-	NC_000021.9:g.36747934G>A	gnomAD
SIM2	Q14190	p.Ala616Pro	rs111672468	missense variant	-	NC_000021.9:g.36747934G>C	gnomAD
SIM2	Q14190	p.Ala618Thr	rs967004609	missense variant	-	NC_000021.9:g.36747940G>A	TOPMed,gnomAD
SIM2	Q14190	p.Ala618Asp	rs978647781	missense variant	-	NC_000021.9:g.36747941C>A	TOPMed
SIM2	Q14190	p.Ala618Pro	rs967004609	missense variant	-	NC_000021.9:g.36747940G>C	TOPMed,gnomAD
SIM2	Q14190	p.Ala619Thr	rs1282306789	missense variant	-	NC_000021.9:g.36747943G>A	TOPMed,gnomAD
SIM2	Q14190	p.Ser620Ala	rs936411539	missense variant	-	NC_000021.9:g.36747946T>G	TOPMed
SIM2	Q14190	p.Leu622Val	rs1479512535	missense variant	-	NC_000021.9:g.36747952C>G	TOPMed
SIM2	Q14190	p.Cys624Arg	rs1038823139	missense variant	-	NC_000021.9:g.36747958T>C	TOPMed
SIM2	Q14190	p.Cys624Gly	rs1038823139	missense variant	-	NC_000021.9:g.36747958T>G	TOPMed
SIM2	Q14190	p.Gly628Ser	rs1205112450	missense variant	-	NC_000021.9:g.36747970G>A	TOPMed,gnomAD
SIM2	Q14190	p.Glu630Lys	rs1222177558	missense variant	-	NC_000021.9:g.36747976G>A	TOPMed
SIM2	Q14190	p.Glu630Gly	rs1345400260	missense variant	-	NC_000021.9:g.36747977A>G	TOPMed
SIM2	Q14190	p.Ala631Glu	rs1378723664	missense variant	-	NC_000021.9:g.36747980C>A	gnomAD
SIM2	Q14190	p.Ala631Thr	rs1274977364	missense variant	-	NC_000021.9:g.36747979G>A	TOPMed
SIM2	Q14190	p.Ala632Glu	rs1456011609	missense variant	-	NC_000021.9:g.36747983C>A	TOPMed,gnomAD
SIM2	Q14190	p.Ala632Val	rs1456011609	missense variant	-	NC_000021.9:g.36747983C>T	TOPMed,gnomAD
SIM2	Q14190	p.Gly634Arg	rs1051393062	missense variant	-	NC_000021.9:g.36747988G>C	TOPMed,gnomAD
SIM2	Q14190	p.Arg637Gly	rs1402144591	missense variant	-	NC_000021.9:g.36747997C>G	TOPMed
SIM2	Q14190	p.Arg639Trp	rs1174233065	missense variant	-	NC_000021.9:g.36748003C>T	TOPMed
SIM2	Q14190	p.Ser642Ile	rs886337227	missense variant	-	NC_000021.9:g.36748013G>T	TOPMed,gnomAD
SIM2	Q14190	p.Ser642Thr	rs886337227	missense variant	-	NC_000021.9:g.36748013G>C	TOPMed,gnomAD
SIM2	Q14190	p.Pro643Leu	rs1173298591	missense variant	-	NC_000021.9:g.36748016C>T	TOPMed
SIM2	Q14190	p.Ala645Val	rs1004828397	missense variant	-	NC_000021.9:g.36748022C>T	TOPMed,gnomAD
SIM2	Q14190	p.Thr646Pro	rs991788855	missense variant	-	NC_000021.9:g.36748024A>C	TOPMed,gnomAD
SIM2	Q14190	p.Thr646Ala	rs991788855	missense variant	-	NC_000021.9:g.36748024A>G	TOPMed,gnomAD
SIM2	Q14190	p.Pro648Thr	rs1361896633	missense variant	-	NC_000021.9:g.36748030C>A	gnomAD
SIM2	Q14190	p.Pro648Leu	rs1240456842	missense variant	-	NC_000021.9:g.36748031C>T	TOPMed
SIM2	Q14190	p.Pro649Ala	rs1469534783	missense variant	-	NC_000021.9:g.36748033C>G	TOPMed,gnomAD
SIM2	Q14190	p.Pro649Leu	rs1312180808	missense variant	-	NC_000021.9:g.36748034C>T	TOPMed
SIM2	Q14190	p.Gly650Arg	rs1163838903	missense variant	-	NC_000021.9:g.36748036G>C	gnomAD
SIM2	Q14190	p.Ala651Thr	rs1366880485	missense variant	-	NC_000021.9:g.36748039G>A	gnomAD
SIM2	Q14190	p.Leu653Val	rs866508702	missense variant	-	NC_000021.9:g.36748045C>G	TOPMed
SIM2	Q14190	p.Leu657Val	rs1347853865	missense variant	-	NC_000021.9:g.36748057C>G	TOPMed
SIM2	Q14190	p.Ala659Ser	rs1422229468	missense variant	-	NC_000021.9:g.36748063G>T	TOPMed,gnomAD
SIM2	Q14190	p.Ala659Val	rs899035225	missense variant	-	NC_000021.9:g.36748064C>T	TOPMed
SIM2	Q14190	p.Ala659Pro	rs1422229468	missense variant	-	NC_000021.9:g.36748063G>C	TOPMed,gnomAD
SIM2	Q14190	p.Ser660Pro	rs371535787	missense variant	-	NC_000021.9:g.36748066T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIM2	Q14190	p.Ile663Thr	rs1451635508	missense variant	-	NC_000021.9:g.36748076T>C	TOPMed
SIM2	Q14190	p.Gly666Arg	rs553422418	missense variant	-	NC_000021.9:g.36748084G>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Ser5Arg	rs1413946017	missense variant	-	NC_000017.11:g.44557703C>G	TOPMed
FZD2	Q14332	p.Pro8Thr	rs1391088820	missense variant	-	NC_000017.11:g.44557710C>A	gnomAD
FZD2	Q14332	p.Arg9His	rs540777044	missense variant	-	NC_000017.11:g.44557714G>A	NCI-TCGA
FZD2	Q14332	p.Arg9Cys	rs1457585218	missense variant	-	NC_000017.11:g.44557713C>T	TOPMed,gnomAD
FZD2	Q14332	p.Arg9His	rs540777044	missense variant	-	NC_000017.11:g.44557714G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Leu10Val	rs904819812	missense variant	-	NC_000017.11:g.44557716C>G	TOPMed
FZD2	Q14332	p.Leu12Met	rs199790761	missense variant	-	NC_000017.11:g.44557722C>A	ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Pro13Leu	rs150027138	missense variant	-	NC_000017.11:g.44557726C>T	1000Genomes,TOPMed,gnomAD
FZD2	Q14332	p.Pro18Leu	rs1268657066	missense variant	-	NC_000017.11:g.44557741C>T	gnomAD
FZD2	Q14332	p.Ala19Val	rs1196775603	missense variant	-	NC_000017.11:g.44557744C>T	gnomAD
FZD2	Q14332	p.Gly21Arg	rs147715817	missense variant	-	NC_000017.11:g.44557749G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly21Val	rs1409538143	missense variant	-	NC_000017.11:g.44557750G>T	gnomAD
FZD2	Q14332	p.Gly21Arg	rs147715817	missense variant	-	NC_000017.11:g.44557749G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Pro22Leu	rs767295801	missense variant	-	NC_000017.11:g.44557753C>T	ExAC,gnomAD
FZD2	Q14332	p.Phe25Leu	rs749968550	missense variant	-	NC_000017.11:g.44557763C>G	ExAC,gnomAD
FZD2	Q14332	p.His26Asp	rs779506925	missense variant	-	NC_000017.11:g.44557764C>G	ExAC,gnomAD
FZD2	Q14332	p.His26Arg	rs748988013	missense variant	-	NC_000017.11:g.44557765A>G	ExAC
FZD2	Q14332	p.Gly27Glu	rs1235513068	missense variant	-	NC_000017.11:g.44557768G>A	gnomAD
FZD2	Q14332	p.Gly27Arg	rs754611548	missense variant	-	NC_000017.11:g.44557767G>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly27Arg	rs754611548	missense variant	-	NC_000017.11:g.44557767G>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Lys29Asn	rs1365650986	missense variant	-	NC_000017.11:g.44557775G>T	TOPMed
FZD2	Q14332	p.Ile31Leu	rs1007509516	missense variant	-	NC_000017.11:g.44557779A>C	TOPMed
FZD2	Q14332	p.Ile31Met	rs1286034359	missense variant	-	NC_000017.11:g.44557781C>G	gnomAD
FZD2	Q14332	p.Ser32Thr	rs1315569415	missense variant	-	NC_000017.11:g.44557782T>A	gnomAD
FZD2	Q14332	p.Ile33Met	rs1017947835	missense variant	-	NC_000017.11:g.44557787C>G	TOPMed
FZD2	Q14332	p.His36Pro	rs747271499	missense variant	-	NC_000017.11:g.44557795A>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.His36Leu	rs747271499	missense variant	-	NC_000017.11:g.44557795A>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly37Cys	rs1159420624	missense variant	-	NC_000017.11:g.44557797G>T	TOPMed
FZD2	Q14332	p.Pro41Arg	rs142583858	missense variant	-	NC_000017.11:g.44557810C>G	ESP,ExAC,TOPMed
FZD2	Q14332	p.Pro41Ser	rs776956114	missense variant	-	NC_000017.11:g.44557809C>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Ser43Ala	rs1483406071	missense variant	-	NC_000017.11:g.44557815T>G	gnomAD
FZD2	Q14332	p.Asn53Thr	rs1367854819	missense variant	-	NC_000017.11:g.44557846A>C	gnomAD
FZD2	Q14332	p.Asn53Ser	rs1367854819	missense variant	-	NC_000017.11:g.44557846A>G	gnomAD
FZD2	Q14332	p.Gln54Arg	rs909657426	missense variant	-	NC_000017.11:g.44557849A>G	gnomAD
FZD2	Q14332	p.Thr55Ala	rs1026329445	missense variant	-	NC_000017.11:g.44557851A>G	TOPMed,gnomAD
FZD2	Q14332	p.Leu60Phe	rs761463887	missense variant	-	NC_000017.11:g.44557866C>T	ExAC,gnomAD
FZD2	Q14332	p.Gly62Val	COSM4931206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557873G>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Gly62Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44557872G>C	NCI-TCGA
FZD2	Q14332	p.Thr64Met	rs767518136	missense variant	-	NC_000017.11:g.44557879C>T	ExAC,gnomAD
FZD2	Q14332	p.Gln66Ter	rs750365738	stop gained	-	NC_000017.11:g.44557884C>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Asp68Tyr	COSM4920990	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557890G>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Val82Leu	rs1244482185	missense variant	-	NC_000017.11:g.44557932G>T	gnomAD
FZD2	Q14332	p.Gln83Pro	rs1277393888	missense variant	-	NC_000017.11:g.44557936A>C	gnomAD
FZD2	Q14332	p.Cys84Tyr	rs984920143	missense variant	-	NC_000017.11:g.44557939G>A	TOPMed
FZD2	Q14332	p.Ser85Leu	rs1274579640	missense variant	-	NC_000017.11:g.44557942C>T	TOPMed,gnomAD
FZD2	Q14332	p.Pro86Ser	rs754629987	missense variant	-	NC_000017.11:g.44557944C>T	ExAC,gnomAD
FZD2	Q14332	p.Glu87Lys	COSM4066942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557947G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Met95Leu	rs1182259253	missense variant	-	NC_000017.11:g.44557971A>T	gnomAD
FZD2	Q14332	p.Tyr96His	COSM4066943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557974T>C	NCI-TCGA Cosmic
FZD2	Q14332	p.Ala97Ser	rs757523917	missense variant	-	NC_000017.11:g.44557977G>T	ExAC,gnomAD
FZD2	Q14332	p.Pro98Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44557980C>T	NCI-TCGA
FZD2	Q14332	p.Cys100Arg	COSM979985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557986T>C	NCI-TCGA Cosmic
FZD2	Q14332	p.Glu104Lys	rs1375718768	missense variant	-	NC_000017.11:g.44557998G>A	TOPMed
FZD2	Q14332	p.Pro108Gln	rs746414947	missense variant	-	NC_000017.11:g.44558011C>A	ExAC,gnomAD
FZD2	Q14332	p.Ile113Val	rs770414415	missense variant	-	NC_000017.11:g.44558025A>G	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Ile113Thr	rs201264228	missense variant	-	NC_000017.11:g.44558026T>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Glu115Asp	rs749318758	missense variant	-	NC_000017.11:g.44558033G>C	ExAC,gnomAD
FZD2	Q14332	p.Arg116Cys	rs1301874775	missense variant	-	NC_000017.11:g.44558034C>T	gnomAD
FZD2	Q14332	p.Arg118ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.44558033_44558034GC>-	NCI-TCGA
FZD2	Q14332	p.Cys121Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558049T>G	NCI-TCGA
FZD2	Q14332	p.Glu122Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558052G>A	NCI-TCGA
FZD2	Q14332	p.Ala123Thr	rs762062345	missense variant	-	NC_000017.11:g.44558055G>A	ExAC,gnomAD
FZD2	Q14332	p.Met125Val	rs1255640347	missense variant	-	NC_000017.11:g.44558061A>G	TOPMed
FZD2	Q14332	p.Met125Thr	rs972479309	missense variant	-	NC_000017.11:g.44558062T>C	gnomAD
FZD2	Q14332	p.Lys127Thr	rs773045036	missense variant	-	NC_000017.11:g.44558068A>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Phe128Leu	rs760595884	missense variant	-	NC_000017.11:g.44558072C>G	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Phe130Val	rs1255620991	missense variant	-	NC_000017.11:g.44558076T>G	gnomAD
FZD2	Q14332	p.Pro133Ala	rs1474583091	missense variant	-	NC_000017.11:g.44558085C>G	gnomAD
FZD2	Q14332	p.Glu134Lys	rs1248571035	missense variant	-	NC_000017.11:g.44558088G>A	gnomAD
FZD2	Q14332	p.Arg135His	rs1184280246	missense variant	-	NC_000017.11:g.44558092G>A	gnomAD
FZD2	Q14332	p.Arg135Ser	rs766237073	missense variant	-	NC_000017.11:g.44558091C>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg137Leu	rs866001466	missense variant	-	NC_000017.11:g.44558098G>T	gnomAD
FZD2	Q14332	p.Arg137His	rs866001466	missense variant	-	NC_000017.11:g.44558098G>A	gnomAD
FZD2	Q14332	p.Glu139Lys	rs753404467	missense variant	-	NC_000017.11:g.44558103G>A	ExAC,gnomAD
FZD2	Q14332	p.His140Arg	rs1174987770	missense variant	-	NC_000017.11:g.44558107A>G	gnomAD
FZD2	Q14332	p.Pro142Leu	rs759024435	missense variant	-	NC_000017.11:g.44558113C>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg143Pro	rs1339240115	missense variant	-	NC_000017.11:g.44558116G>C	TOPMed
FZD2	Q14332	p.Arg143His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558116G>A	NCI-TCGA
FZD2	Q14332	p.Gly145Arg	rs1390054192	missense variant	-	NC_000017.11:g.44558121G>C	gnomAD
FZD2	Q14332	p.Ala146Ser	rs144916759	missense variant	-	NC_000017.11:g.44558124G>T	ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Glu147Lys	rs1056170782	missense variant	-	NC_000017.11:g.44558127G>A	TOPMed
FZD2	Q14332	p.Gln148Glu	rs1470091490	missense variant	-	NC_000017.11:g.44558130C>G	TOPMed
FZD2	Q14332	p.Gly152Ala	rs756747247	missense variant	-	NC_000017.11:g.44558143G>C	ExAC,gnomAD
FZD2	Q14332	p.Ser156Tyr	rs1373700762	missense variant	-	NC_000017.11:g.44558155C>A	TOPMed
FZD2	Q14332	p.Glu157Gln	rs749423345	missense variant	-	NC_000017.11:g.44558157G>C	ExAC,gnomAD
FZD2	Q14332	p.Glu157Lys	rs749423345	missense variant	-	NC_000017.11:g.44558157G>A	ExAC,gnomAD
FZD2	Q14332	p.Gly159Ter	rs768891016	stop gained	-	NC_000017.11:g.44558163G>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly159Arg	rs768891016	missense variant	-	NC_000017.11:g.44558163G>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly159Ala	rs779004987	missense variant	-	NC_000017.11:g.44558164G>C	ExAC,gnomAD
FZD2	Q14332	p.Gly159Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558163G>A	NCI-TCGA
FZD2	Q14332	p.Pro161Ser	rs748334299	missense variant	-	NC_000017.11:g.44558169C>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Ala162Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558173C>T	NCI-TCGA
FZD2	Q14332	p.Thr165Asn	rs770903448	missense variant	-	NC_000017.11:g.44558182C>A	ExAC,gnomAD
FZD2	Q14332	p.Thr166Ser	rs1198566326	missense variant	-	NC_000017.11:g.44558185C>G	TOPMed
FZD2	Q14332	p.Ala167Val	rs759427364	missense variant	-	NC_000017.11:g.44558188C>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Pro168Gln	rs1437285040	missense variant	-	NC_000017.11:g.44558191C>A	gnomAD
FZD2	Q14332	p.Pro168Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558191C>T	NCI-TCGA
FZD2	Q14332	p.Pro169Leu	rs1253611469	missense variant	-	NC_000017.11:g.44558194C>T	TOPMed
FZD2	Q14332	p.Pro169Thr	rs1292969671	missense variant	-	NC_000017.11:g.44558193C>A	gnomAD
FZD2	Q14332	p.Leu172Val	rs1043572819	missense variant	-	NC_000017.11:g.44558202C>G	TOPMed
FZD2	Q14332	p.Pro174Leu	rs752191369	missense variant	-	NC_000017.11:g.44558209C>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Pro174Ser	rs764673652	missense variant	-	NC_000017.11:g.44558208C>T	ExAC,gnomAD
FZD2	Q14332	p.Gly175Val	rs762514513	missense variant	-	NC_000017.11:g.44558212G>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly175Asp	rs762514513	missense variant	-	NC_000017.11:g.44558212G>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly177Arg	rs530418343	missense variant	-	NC_000017.11:g.44558217G>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly177Arg	rs530418343	missense variant	-	NC_000017.11:g.44558217G>A	NCI-TCGA
FZD2	Q14332	p.Gly177Arg	rs530418343	missense variant	-	NC_000017.11:g.44558217G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly178Ser	rs552299284	missense variant	-	NC_000017.11:g.44558220G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Thr179Ser	rs1220216796	missense variant	-	NC_000017.11:g.44558224C>G	gnomAD
FZD2	Q14332	p.Pro180Ser	rs570404945	missense variant	-	NC_000017.11:g.44558226C>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly181Asp	rs780528773	missense variant	-	NC_000017.11:g.44558230G>A	ExAC,gnomAD
FZD2	Q14332	p.Pro183Leu	rs1038929261	missense variant	-	NC_000017.11:g.44558236C>T	TOPMed
FZD2	Q14332	p.Gly187Ser	rs1469955991	missense variant	-	NC_000017.11:g.44558247G>A	gnomAD
FZD2	Q14332	p.Gly187Asp	rs1184407847	missense variant	-	NC_000017.11:g.44558248G>A	TOPMed
FZD2	Q14332	p.Ala188Ser	rs1336876177	missense variant	-	NC_000017.11:g.44558250G>T	TOPMed,gnomAD
FZD2	Q14332	p.Pro189Ser	rs904495986	missense variant	-	NC_000017.11:g.44558253C>T	TOPMed,gnomAD
FZD2	Q14332	p.Thr194Ala	rs1416625449	missense variant	-	NC_000017.11:g.44558268A>G	gnomAD
FZD2	Q14332	p.Glu196Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558274G>C	NCI-TCGA
FZD2	Q14332	p.His197Tyr	rs532764830	missense variant	-	NC_000017.11:g.44558277C>T	1000Genomes,ExAC,gnomAD
FZD2	Q14332	p.Phe199Leu	rs778865495	missense variant	-	NC_000017.11:g.44558285C>G	ExAC,gnomAD
FZD2	Q14332	p.Phe199Leu	COSM1128688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558285C>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Arg203Cys	rs1431700816	missense variant	-	NC_000017.11:g.44558295C>T	gnomAD
FZD2	Q14332	p.Arg203His	rs1208609685	missense variant	-	NC_000017.11:g.44558296G>A	TOPMed
FZD2	Q14332	p.Val204Ile	rs1335328160	missense variant	-	NC_000017.11:g.44558298G>A	gnomAD
FZD2	Q14332	p.Lys206Gln	rs566397443	missense variant	-	NC_000017.11:g.44558304A>C	1000Genomes,ExAC,gnomAD
FZD2	Q14332	p.Phe215Cys	rs1289503825	missense variant	-	NC_000017.11:g.44558332T>G	gnomAD
FZD2	Q14332	p.Gly217Ser	rs1006227093	missense variant	-	NC_000017.11:g.44558337G>A	TOPMed,gnomAD
FZD2	Q14332	p.Gly217Asp	rs745816253	missense variant	-	NC_000017.11:g.44558338G>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Glu218Ter	rs769703330	stop gained	-	NC_000017.11:g.44558340G>T	ExAC,gnomAD
FZD2	Q14332	p.Arg219His	rs762507541	missense variant	-	NC_000017.11:g.44558344G>A	ExAC,gnomAD
FZD2	Q14332	p.Arg219Cys	rs375633511	missense variant	-	NC_000017.11:g.44558343C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg219Gly	rs375633511	missense variant	-	NC_000017.11:g.44558343C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg219Cys	RCV000736148	missense variant	-	NC_000017.11:g.44558343C>T	ClinVar
FZD2	Q14332	p.Ala223Val	rs368248456	missense variant	-	NC_000017.11:g.44558356C>T	ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Ala223Val	rs368248456	missense variant	-	NC_000017.11:g.44558356C>T	NCI-TCGA
FZD2	Q14332	p.Ala228Val	rs1169257475	missense variant	-	NC_000017.11:g.44558371C>T	TOPMed,gnomAD
FZD2	Q14332	p.Ala228Ser	rs754191382	missense variant	-	NC_000017.11:g.44558370G>T	ExAC,gnomAD
FZD2	Q14332	p.Ala228Val	rs1169257475	missense variant	-	NC_000017.11:g.44558371C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Ala228Pro	rs754191382	missense variant	-	NC_000017.11:g.44558370G>C	ExAC,gnomAD
FZD2	Q14332	p.Arg229Leu	rs371992723	missense variant	-	NC_000017.11:g.44558374G>T	ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Pro230Ser	rs1378636473	missense variant	-	NC_000017.11:g.44558376C>T	TOPMed
FZD2	Q14332	p.Asp231Asn	rs777673157	missense variant	-	NC_000017.11:g.44558379G>A	ExAC,gnomAD
FZD2	Q14332	p.Asp231Asn	rs777673157	missense variant	-	NC_000017.11:g.44558379G>A	NCI-TCGA
FZD2	Q14332	p.Phe235Leu	rs1451633742	missense variant	-	NC_000017.11:g.44558391T>C	gnomAD
FZD2	Q14332	p.Ser237Ter	rs1367185671	stop gained	-	NC_000017.11:g.44558398C>A	gnomAD
FZD2	Q14332	p.Gln238Leu	rs1234997586	missense variant	-	NC_000017.11:g.44558401A>T	TOPMed
FZD2	Q14332	p.Thr241Lys	rs757410006	missense variant	-	NC_000017.11:g.44558410C>A	ExAC,gnomAD
FZD2	Q14332	p.Arg242Pro	rs745654767	missense variant	-	NC_000017.11:g.44558413G>C	ExAC,gnomAD
FZD2	Q14332	p.Ala244Val	rs1443411666	missense variant	-	NC_000017.11:g.44558419C>T	gnomAD
FZD2	Q14332	p.Ala244Val	rs1443411666	missense variant	-	NC_000017.11:g.44558419C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Arg245Cys	COSM979989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558421C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Leu246Phe	rs775470381	missense variant	-	NC_000017.11:g.44558424C>T	ExAC,gnomAD
FZD2	Q14332	p.Trp247Cys	rs1466602342	missense variant	-	NC_000017.11:g.44558429G>T	gnomAD
FZD2	Q14332	p.Thr250Ile	rs143455997	missense variant	-	NC_000017.11:g.44558437C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Val253Leu	rs761564563	missense variant	-	NC_000017.11:g.44558445G>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Cys256Ter	rs369254941	stop gained	-	NC_000017.11:g.44558456C>A	ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Ala257Thr	rs1334398387	missense variant	-	NC_000017.11:g.44558457G>A	TOPMed,gnomAD
FZD2	Q14332	p.Ala257Thr	rs1334398387	missense variant	-	NC_000017.11:g.44558457G>A	NCI-TCGA
FZD2	Q14332	p.Thr259Ala	rs759922644	missense variant	-	NC_000017.11:g.44558463A>G	ExAC,gnomAD
FZD2	Q14332	p.Thr262Ala	rs1222893148	missense variant	-	NC_000017.11:g.44558472A>G	TOPMed
FZD2	Q14332	p.Thr265Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558482C>T	NCI-TCGA
FZD2	Q14332	p.Tyr266Phe	rs1281130175	missense variant	-	NC_000017.11:g.44558485A>T	TOPMed
FZD2	Q14332	p.Leu267Phe	COSM4823084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558489G>C	NCI-TCGA Cosmic
FZD2	Q14332	p.Val268Ala	rs769050190	missense variant	-	NC_000017.11:g.44558491T>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Asp269His	rs1330380393	missense variant	-	NC_000017.11:g.44558493G>C	TOPMed
FZD2	Q14332	p.Met270Arg	rs753278694	missense variant	-	NC_000017.11:g.44558497T>G	ExAC,gnomAD
FZD2	Q14332	p.Met270Thr	rs753278694	missense variant	-	NC_000017.11:g.44558497T>C	ExAC,gnomAD
FZD2	Q14332	p.Arg272Leu	rs1234766566	missense variant	-	NC_000017.11:g.44558503G>T	gnomAD
FZD2	Q14332	p.Arg272His	COSM979990	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558503G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Phe273Leu	rs758781030	missense variant	-	NC_000017.11:g.44558507C>G	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Pro276Ser	rs764170120	missense variant	-	NC_000017.11:g.44558514C>T	ExAC,gnomAD
FZD2	Q14332	p.Arg278Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558521G>A	NCI-TCGA
FZD2	Q14332	p.Ser284Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558538T>C	NCI-TCGA
FZD2	Q14332	p.Tyr287His	rs781375731	missense variant	-	NC_000017.11:g.44558547T>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Thr288Ala	rs1445369464	missense variant	-	NC_000017.11:g.44558550A>G	gnomAD
FZD2	Q14332	p.Val290Met	rs541765661	missense variant	-	NC_000017.11:g.44558556G>A	NCI-TCGA,NCI-TCGA Cosmic
FZD2	Q14332	p.Val290Met	rs541765661	missense variant	-	NC_000017.11:g.44558556G>A	-
FZD2	Q14332	p.Ser291Leu	COSM5505920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558560C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Ala296Val	rs1247540055	missense variant	-	NC_000017.11:g.44558575C>T	gnomAD
FZD2	Q14332	p.Gly297Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558577G>A	NCI-TCGA
FZD2	Q14332	p.Val299Met	rs540840394	missense variant	-	NC_000017.11:g.44558583G>A	1000Genomes,ExAC,gnomAD
FZD2	Q14332	p.Val299Met	rs540840394	missense variant	-	NC_000017.11:g.44558583G>A	NCI-TCGA,NCI-TCGA Cosmic
FZD2	Q14332	p.Leu300Val	rs1171120457	missense variant	-	NC_000017.11:g.44558586C>G	TOPMed
FZD2	Q14332	p.Arg303Cys	COSM706148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558595C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Val304Leu	rs768414164	missense variant	-	NC_000017.11:g.44558598G>C	ExAC,gnomAD
FZD2	Q14332	p.Cys306Tyr	rs1388042136	missense variant	-	NC_000017.11:g.44558605G>A	gnomAD
FZD2	Q14332	p.Glu308Gln	rs1430553474	missense variant	-	NC_000017.11:g.44558610G>C	TOPMed
FZD2	Q14332	p.Arg309Leu	rs771900202	missense variant	-	NC_000017.11:g.44558614G>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg309Ser	rs747650126	missense variant	-	NC_000017.11:g.44558613C>A	ExAC,gnomAD
FZD2	Q14332	p.Glu312Gln	rs770215499	missense variant	-	NC_000017.11:g.44558622G>C	ExAC,gnomAD
FZD2	Q14332	p.Gly314Val	rs1348396900	missense variant	-	NC_000017.11:g.44558629G>T	gnomAD
FZD2	Q14332	p.Arg316Cys	rs1292652015	missense variant	-	NC_000017.11:g.44558634C>T	gnomAD
FZD2	Q14332	p.Arg316Leu	rs1490197432	missense variant	-	NC_000017.11:g.44558635G>T	gnomAD
FZD2	Q14332	p.Lys323Arg	rs764576821	missense variant	-	NC_000017.11:g.44558656A>G	ExAC,gnomAD
FZD2	Q14332	p.Lys324Glu	rs925950278	missense variant	-	NC_000017.11:g.44558658A>G	gnomAD
FZD2	Q14332	p.Lys324Gln	rs925950278	missense variant	-	NC_000017.11:g.44558658A>C	gnomAD
FZD2	Q14332	p.Lys324Gln	rs925950278	missense variant	-	NC_000017.11:g.44558658A>C	NCI-TCGA Cosmic
FZD2	Q14332	p.Leu330Ile	rs1362014589	missense variant	-	NC_000017.11:g.44558676C>A	gnomAD
FZD2	Q14332	p.Tyr335Ter	COSM1128686	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.44558693C>G	NCI-TCGA Cosmic
FZD2	Q14332	p.Ile343Val	rs767549516	missense variant	-	NC_000017.11:g.44558715A>G	ExAC,gnomAD
FZD2	Q14332	p.Trp345Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.44558723G>A	NCI-TCGA
FZD2	Q14332	p.Val346Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558724G>A	NCI-TCGA
FZD2	Q14332	p.Val346Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558725T>C	NCI-TCGA
FZD2	Q14332	p.Leu348Met	rs1422204743	missense variant	-	NC_000017.11:g.44558730C>A	gnomAD
FZD2	Q14332	p.Leu348Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558731T>C	NCI-TCGA
FZD2	Q14332	p.Phe353Leu	rs1283802196	missense variant	-	NC_000017.11:g.44558747C>G	TOPMed
FZD2	Q14332	p.Ala355Thr	rs1306672386	missense variant	-	NC_000017.11:g.44558751G>A	gnomAD
FZD2	Q14332	p.Ala356Gly	rs1334324882	missense variant	-	NC_000017.11:g.44558755C>G	gnomAD
FZD2	Q14332	p.Gly357Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558757G>A	NCI-TCGA
FZD2	Q14332	p.Met358Ile	COSM5531531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558762G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Trp360Ter	COSM3518087	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.44558768G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Gly361Ser	rs1316342300	missense variant	-	NC_000017.11:g.44558769G>A	gnomAD
FZD2	Q14332	p.His362Arg	rs1269731273	missense variant	-	NC_000017.11:g.44558773A>G	TOPMed
FZD2	Q14332	p.His362Tyr	rs1220274619	missense variant	-	NC_000017.11:g.44558772C>T	TOPMed,gnomAD
FZD2	Q14332	p.Ala364Asp	COSM1383686	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558779C>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Glu366Gly	rs778973007	missense variant	-	NC_000017.11:g.44558785A>G	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Glu366Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558786G>T	NCI-TCGA
FZD2	Q14332	p.Asn368Thr	rs747701116	missense variant	-	NC_000017.11:g.44558791A>C	ExAC,gnomAD
FZD2	Q14332	p.Asn368Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558791A>G	NCI-TCGA
FZD2	Q14332	p.His373Pro	rs777369808	missense variant	-	NC_000017.11:g.44558806A>C	ExAC,gnomAD
FZD2	Q14332	p.His373Tyr	COSM1128684	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558805C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Ala376Ser	rs1414226071	missense variant	-	NC_000017.11:g.44558814G>T	TOPMed
FZD2	Q14332	p.Trp377Ter	rs1555657045	stop gained	-	NC_000017.11:g.44558818G>A	-
FZD2	Q14332	p.Trp377Ter	RCV000577910	nonsense	Robinow syndrome, autosomal dominant 2 (DRS2)	NC_000017.11:g.44558818G>A	ClinVar
FZD2	Q14332	p.Val379Leu	rs746685961	missense variant	-	NC_000017.11:g.44558823G>T	ExAC,gnomAD
FZD2	Q14332	p.Val379Met	rs746685961	missense variant	-	NC_000017.11:g.44558823G>A	ExAC,gnomAD
FZD2	Q14332	p.Val379Met	rs746685961	missense variant	-	NC_000017.11:g.44558823G>A	NCI-TCGA,NCI-TCGA Cosmic
FZD2	Q14332	p.Pro380Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558827C>T	NCI-TCGA
FZD2	Q14332	p.Ala381Thr	rs530531830	missense variant	-	NC_000017.11:g.44558829G>A	1000Genomes,ExAC,gnomAD
FZD2	Q14332	p.Ala381Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558829G>T	NCI-TCGA
FZD2	Q14332	p.Val382Phe	rs1296057234	missense variant	-	NC_000017.11:g.44558832G>T	gnomAD
FZD2	Q14332	p.Val382Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558832G>A	NCI-TCGA
FZD2	Q14332	p.Ile385Thr	rs1420830591	missense variant	-	NC_000017.11:g.44558842T>C	TOPMed
FZD2	Q14332	p.Thr386Ile	rs774804882	missense variant	-	NC_000017.11:g.44558845C>T	ExAC,gnomAD
FZD2	Q14332	p.Thr386Ala	rs769196121	missense variant	-	NC_000017.11:g.44558844A>G	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Met390Ile	rs767602533	missense variant	-	NC_000017.11:g.44558858G>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Met390Ile	rs767602533	missense variant	-	NC_000017.11:g.44558858G>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Met390Ile	rs767602533	missense variant	-	NC_000017.11:g.44558858G>T	NCI-TCGA
FZD2	Q14332	p.Met390Thr	rs1382604177	missense variant	-	NC_000017.11:g.44558857T>C	gnomAD
FZD2	Q14332	p.Gly391Ser	rs1299976629	missense variant	-	NC_000017.11:g.44558859G>A	gnomAD
FZD2	Q14332	p.Gly391Arg	rs1299976629	missense variant	-	NC_000017.11:g.44558859G>C	gnomAD
FZD2	Q14332	p.Leu398Met	rs1316059026	missense variant	-	NC_000017.11:g.44558880C>A	TOPMed
FZD2	Q14332	p.Val401Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558889G>A	NCI-TCGA
FZD2	Q14332	p.Phe403Leu	rs1459890324	missense variant	-	NC_000017.11:g.44558897C>A	TOPMed,gnomAD
FZD2	Q14332	p.Val404Ile	COSM979994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558898G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Leu406Phe	rs1419657640	missense variant	-	NC_000017.11:g.44558904C>T	gnomAD
FZD2	Q14332	p.Ser408Asn	rs1427401815	missense variant	-	NC_000017.11:g.44558911G>A	gnomAD
FZD2	Q14332	p.Leu409Met	rs1167951005	missense variant	-	NC_000017.11:g.44558913C>A	gnomAD
FZD2	Q14332	p.Asp410Asn	rs765084011	missense variant	-	NC_000017.11:g.44558916G>A	ExAC,gnomAD
FZD2	Q14332	p.Pro411Thr	COSM1383687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558919C>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Leu412Met	rs371409349	missense variant	-	NC_000017.11:g.44558922C>A	ESP,ExAC,TOPMed
FZD2	Q14332	p.Arg413Gln	rs758351214	missense variant	-	NC_000017.11:g.44558926G>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly414Asp	rs777341173	missense variant	-	NC_000017.11:g.44558929G>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Val416Leu	rs746494673	missense variant	-	NC_000017.11:g.44558934G>C	ExAC,gnomAD
FZD2	Q14332	p.Ala418Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558941C>T	NCI-TCGA
FZD2	Q14332	p.Leu420His	rs1455744194	missense variant	-	NC_000017.11:g.44558947T>A	gnomAD
FZD2	Q14332	p.Phe421Leu	rs1383973704	missense variant	-	NC_000017.11:g.44558951C>G	TOPMed
FZD2	Q14332	p.Val422Met	rs1339183245	missense variant	-	NC_000017.11:g.44558952G>A	TOPMed
FZD2	Q14332	p.Val422Met	rs1339183245	missense variant	-	NC_000017.11:g.44558952G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Tyr423Ter	rs1451148515	stop gained	-	NC_000017.11:g.44558957C>A	gnomAD
FZD2	Q14332	p.Phe425Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44558963C>G	NCI-TCGA
FZD2	Q14332	p.Ile426Phe	rs756989889	missense variant	-	NC_000017.11:g.44558964A>T	ExAC,gnomAD
FZD2	Q14332	p.Ile426Val	rs756989889	missense variant	-	NC_000017.11:g.44558964A>G	ExAC,gnomAD
FZD2	Q14332	p.Gly427Asp	COSM472889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558968G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Ser429Phe	COSM3889742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558974C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Gly434Val	rs1555657074	missense variant	-	NC_000017.11:g.44558989_44558990delinsTT	-
FZD2	Q14332	p.Gly434Val	rs1555657073	missense variant	-	NC_000017.11:g.44558989G>T	-
FZD2	Q14332	p.Gly434Val	rs1555657073	missense variant	Omodysplasia 2 (OMOD2)	NC_000017.11:g.44558989G>T	UniProt,dbSNP
FZD2	Q14332	p.Gly434Val	VAR_081993	missense variant	Omodysplasia 2 (OMOD2)	NC_000017.11:g.44558989G>T	UniProt
FZD2	Q14332	p.Gly434Val	RCV000577879	missense variant	Robinow syndrome, autosomal dominant 2 (DRS2)	NC_000017.11:g.44558989_44558990delinsTT	ClinVar
FZD2	Q14332	p.Gly434Ser	RCV000577904	missense variant	Robinow syndrome, autosomal dominant 2 (DRS2)	NC_000017.11:g.44558988G>A	ClinVar
FZD2	Q14332	p.Gly434Ser	rs1223920489	missense variant	-	NC_000017.11:g.44558988G>A	gnomAD
FZD2	Q14332	p.Gly434Val	RCV000577887	missense variant	Robinow syndrome, autosomal dominant 3 (DRS3)	NC_000017.11:g.44558989G>T	ClinVar
FZD2	Q14332	p.Val436Met	rs769034717	missense variant	-	NC_000017.11:g.44558994G>A	ExAC,gnomAD
FZD2	Q14332	p.Phe439Leu	rs201422597	missense variant	-	NC_000017.11:g.44559005C>G	1000Genomes,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg440His	rs773401045	missense variant	-	NC_000017.11:g.44559007G>A	ExAC,gnomAD
FZD2	Q14332	p.Arg440Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559007G>T	NCI-TCGA
FZD2	Q14332	p.Arg442Cys	rs867681109	missense variant	-	NC_000017.11:g.44559012C>T	-
FZD2	Q14332	p.Arg442His	rs770035472	missense variant	-	NC_000017.11:g.44559013G>A	NCI-TCGA,NCI-TCGA Cosmic
FZD2	Q14332	p.Arg442Cys	rs867681109	missense variant	-	NC_000017.11:g.44559012C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Arg442His	rs770035472	missense variant	-	NC_000017.11:g.44559013G>A	-
FZD2	Q14332	p.Ile444Leu	rs760651150	missense variant	-	NC_000017.11:g.44559018A>C	ExAC,gnomAD
FZD2	Q14332	p.Ile444Thr	rs766665442	missense variant	-	NC_000017.11:g.44559019T>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Met445Val	rs1161069652	missense variant	-	NC_000017.11:g.44559021A>G	TOPMed
FZD2	Q14332	p.Met445Lys	rs776751080	missense variant	-	NC_000017.11:g.44559022T>A	ExAC,gnomAD
FZD2	Q14332	p.Lys446Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559026G>T	NCI-TCGA
FZD2	Q14332	p.Asp448Tyr	rs1480532152	missense variant	-	NC_000017.11:g.44559030G>T	gnomAD
FZD2	Q14332	p.Asp448Gly	rs772323293	missense variant	-	NC_000017.11:g.44559031A>G	ExAC,gnomAD
FZD2	Q14332	p.Gly449Arg	rs773532997	missense variant	-	NC_000017.11:g.44559033G>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Gly449Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559033G>A	NCI-TCGA
FZD2	Q14332	p.Lys451Thr	rs758474512	missense variant	-	NC_000017.11:g.44559040A>C	ExAC,gnomAD
FZD2	Q14332	p.Lys451Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559039A>G	NCI-TCGA
FZD2	Q14332	p.Glu453Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559045G>A	NCI-TCGA
FZD2	Q14332	p.Glu456Gln	rs1346236408	missense variant	-	NC_000017.11:g.44559054G>C	gnomAD
FZD2	Q14332	p.Arg457Gln	rs141791958	missense variant	-	NC_000017.11:g.44559058G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg457Trp	COSM4066946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559057C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Val460Leu	rs756686384	missense variant	-	NC_000017.11:g.44559066G>C	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Val460Met	rs756686384	missense variant	-	NC_000017.11:g.44559066G>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg461Pro	rs780709416	missense variant	-	NC_000017.11:g.44559070G>C	ExAC,gnomAD
FZD2	Q14332	p.Arg461Leu	rs780709416	missense variant	-	NC_000017.11:g.44559070G>T	ExAC,gnomAD
FZD2	Q14332	p.Arg461His	COSM1479638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559070G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Arg461Cys	COSM4066947	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559069C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Ile462Leu	rs1343473493	missense variant	-	NC_000017.11:g.44559072A>C	gnomAD
FZD2	Q14332	p.Gly463Ser	rs779319509	missense variant	-	NC_000017.11:g.44559075G>A	ExAC
FZD2	Q14332	p.Val464Ile	rs748501689	missense variant	-	NC_000017.11:g.44559078G>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Val464Asp	rs1316230624	missense variant	-	NC_000017.11:g.44559079T>A	gnomAD
FZD2	Q14332	p.Val464Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559079T>C	NCI-TCGA
FZD2	Q14332	p.Ser466Thr	rs1213062571	missense variant	-	NC_000017.11:g.44559084T>A	gnomAD
FZD2	Q14332	p.Val467Leu	rs970175049	missense variant	-	NC_000017.11:g.44559087G>C	TOPMed
FZD2	Q14332	p.Val467Glu	rs1490369116	missense variant	-	NC_000017.11:g.44559088T>A	gnomAD
FZD2	Q14332	p.Val467Met	rs970175049	missense variant	-	NC_000017.11:g.44559087G>A	TOPMed
FZD2	Q14332	p.Leu468Ile	rs1266251835	missense variant	-	NC_000017.11:g.44559090C>A	gnomAD
FZD2	Q14332	p.Leu468Arg	RCV000736149	missense variant	-	NC_000017.11:g.44559091T>G	ClinVar
FZD2	Q14332	p.Thr470Ala	rs770938713	missense variant	-	NC_000017.11:g.44559096A>G	ExAC,gnomAD
FZD2	Q14332	p.Pro472Leu	rs966344285	missense variant	-	NC_000017.11:g.44559103C>T	TOPMed,gnomAD
FZD2	Q14332	p.Thr474Ile	rs1373093730	missense variant	-	NC_000017.11:g.44559109C>T	TOPMed
FZD2	Q14332	p.Thr474Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559109C>A	NCI-TCGA
FZD2	Q14332	p.Ile475Val	rs759841056	missense variant	-	NC_000017.11:g.44559111A>G	ExAC,gnomAD
FZD2	Q14332	p.Val476Asp	COSM4066949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559115T>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Val476Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559115T>C	NCI-TCGA
FZD2	Q14332	p.Ile477Thr	rs765550610	missense variant	-	NC_000017.11:g.44559118T>C	ExAC,gnomAD
FZD2	Q14332	p.Tyr482Ter	rs762816431	stop gained	-	NC_000017.11:g.44559134C>A	ExAC,gnomAD
FZD2	Q14332	p.Tyr482His	rs775481151	missense variant	-	NC_000017.11:g.44559132T>C	ExAC,gnomAD
FZD2	Q14332	p.Glu483Lys	rs866012347	missense variant	-	NC_000017.11:g.44559135G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Glu483Lys	rs866012347	missense variant	-	NC_000017.11:g.44559135G>A	-
FZD2	Q14332	p.Ala485Thr	rs1363873560	missense variant	-	NC_000017.11:g.44559141G>A	gnomAD
FZD2	Q14332	p.Arg487His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559148G>A	NCI-TCGA
FZD2	Q14332	p.His489Arg	rs1355758683	missense variant	-	NC_000017.11:g.44559154A>G	TOPMed
FZD2	Q14332	p.Trp490Ter	COSM3518092	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.44559158G>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Glu491Lys	rs926219317	missense variant	-	NC_000017.11:g.44559159G>A	TOPMed,gnomAD
FZD2	Q14332	p.Arg492Cys	rs751478883	missense variant	-	NC_000017.11:g.44559162C>T	ExAC,gnomAD
FZD2	Q14332	p.Arg492Cys	rs751478883	missense variant	-	NC_000017.11:g.44559162C>T	NCI-TCGA,NCI-TCGA Cosmic
FZD2	Q14332	p.Ser493Leu	rs1423453742	missense variant	-	NC_000017.11:g.44559166C>T	NCI-TCGA Cosmic
FZD2	Q14332	p.Ser493Leu	rs1423453742	missense variant	-	NC_000017.11:g.44559166C>T	TOPMed
FZD2	Q14332	p.Val495Met	rs1385421964	missense variant	-	NC_000017.11:g.44559171G>A	TOPMed
FZD2	Q14332	p.Gln497His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559179G>T	NCI-TCGA
FZD2	Q14332	p.His498Arg	rs761755955	missense variant	-	NC_000017.11:g.44559181A>G	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Cys499Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559184G>A	NCI-TCGA
FZD2	Q14332	p.Ser501Asn	rs1359549333	missense variant	-	NC_000017.11:g.44559190G>A	gnomAD
FZD2	Q14332	p.Ala503Val	rs749932584	missense variant	-	NC_000017.11:g.44559196C>T	ExAC,gnomAD
FZD2	Q14332	p.Ala503Val	rs749932584	missense variant	-	NC_000017.11:g.44559196C>T	NCI-TCGA
FZD2	Q14332	p.Ile504Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559198A>G	NCI-TCGA
FZD2	Q14332	p.Pro507Leu	rs548910133	missense variant	-	NC_000017.11:g.44559208C>T	1000Genomes,ExAC,gnomAD
FZD2	Q14332	p.Pro507Ser	rs779659041	missense variant	-	NC_000017.11:g.44559207C>T	ExAC,gnomAD
FZD2	Q14332	p.Ala508Val	rs138090948	missense variant	-	NC_000017.11:g.44559211C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Tyr510His	rs1445321703	missense variant	-	NC_000017.11:g.44559216T>C	gnomAD
FZD2	Q14332	p.Pro512Gln	rs1238294571	missense variant	-	NC_000017.11:g.44559223C>A	TOPMed
FZD2	Q14332	p.Pro512Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559223C>T	NCI-TCGA
FZD2	Q14332	p.Arg513His	rs974602506	missense variant	-	NC_000017.11:g.44559226G>A	TOPMed
FZD2	Q14332	p.Met514Val	rs1183159973	missense variant	-	NC_000017.11:g.44559228A>G	gnomAD
FZD2	Q14332	p.Asp517Asn	rs781487182	missense variant	-	NC_000017.11:g.44559237G>A	ExAC,gnomAD
FZD2	Q14332	p.Thr519Ala	rs988811820	missense variant	-	NC_000017.11:g.44559243A>G	gnomAD
FZD2	Q14332	p.Thr519Ser	rs988811820	missense variant	-	NC_000017.11:g.44559243A>T	gnomAD
FZD2	Q14332	p.Tyr521Cys	rs922721167	missense variant	-	NC_000017.11:g.44559250A>G	TOPMed,gnomAD
FZD2	Q14332	p.Tyr521Asn	COSM6146946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559249T>A	NCI-TCGA Cosmic
FZD2	Q14332	p.Met522Val	rs1338626837	missense variant	-	NC_000017.11:g.44559252A>G	TOPMed,gnomAD
FZD2	Q14332	p.Met522Leu	rs1338626837	missense variant	-	NC_000017.11:g.44559252A>C	TOPMed,gnomAD
FZD2	Q14332	p.Ile523Val	rs1383384153	missense variant	-	NC_000017.11:g.44559255A>G	gnomAD
FZD2	Q14332	p.Thr528Met	rs1049775007	missense variant	-	NC_000017.11:g.44559271C>T	TOPMed,gnomAD
FZD2	Q14332	p.Val531Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559280T>C	NCI-TCGA
FZD2	Q14332	p.Ile533Val	rs1047612015	missense variant	-	NC_000017.11:g.44559285A>G	TOPMed
FZD2	Q14332	p.Phe537Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559299C>G	NCI-TCGA
FZD2	Q14332	p.Trp538Arg	rs1304561617	missense variant	-	NC_000017.11:g.44559300T>C	TOPMed
FZD2	Q14332	p.Trp538Cys	COSM3518094	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559302G>C	NCI-TCGA Cosmic
FZD2	Q14332	p.Trp538Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559302G>T	NCI-TCGA
FZD2	Q14332	p.Trp540Ter	rs1344385392	stop gained	-	NC_000017.11:g.44559307G>A	TOPMed
FZD2	Q14332	p.Trp540Arg	rs1437629201	missense variant	-	NC_000017.11:g.44559306T>C	gnomAD
FZD2	Q14332	p.Trp540Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559307G>C	NCI-TCGA
FZD2	Q14332	p.His546Gln	rs1462119468	missense variant	-	NC_000017.11:g.44559326C>G	TOPMed,gnomAD
FZD2	Q14332	p.His546Tyr	rs1420668927	missense variant	-	NC_000017.11:g.44559324C>T	TOPMed
FZD2	Q14332	p.Ser547_Val565del	VAR_081994	inframe_deletion	Omodysplasia 2 (OMOD2) [MIM:164745]	-	UniProt
FZD2	Q14332	p.Trp548Ter	RCV000754771	nonsense	Omodysplasia 2 (OMOD2)	NC_000017.11:g.44559332G>A	ClinVar
FZD2	Q14332	p.Trp548_Val565del	VAR_081995	inframe_deletion	Omodysplasia 2 (OMOD2) [MIM:164745]	-	UniProt
FZD2	Q14332	p.Arg549Lys	rs942022627	missense variant	-	NC_000017.11:g.44559334G>A	TOPMed
FZD2	Q14332	p.Lys550Arg	rs761727833	missense variant	-	NC_000017.11:g.44559337A>G	ExAC,gnomAD
FZD2	Q14332	p.Thr553Ile	rs201750182	missense variant	-	NC_000017.11:g.44559346C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg554Leu	rs749987687	missense variant	-	NC_000017.11:g.44559349G>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg554His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.44559349G>A	NCI-TCGA
FZD2	Q14332	p.Leu555Phe	rs1178260886	missense variant	-	NC_000017.11:g.44559351C>T	gnomAD
FZD2	Q14332	p.Arg559Gly	rs144687330	missense variant	-	NC_000017.11:g.44559363C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg559Leu	rs753511101	missense variant	-	NC_000017.11:g.44559364G>T	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.Arg559Gln	rs753511101	missense variant	-	NC_000017.11:g.44559364G>A	ExAC,TOPMed,gnomAD
FZD2	Q14332	p.His560Gln	rs1038724972	missense variant	-	NC_000017.11:g.44559368C>G	TOPMed,gnomAD
FZD2	Q14332	p.Gly561Ser	rs148517314	missense variant	-	NC_000017.11:g.44559369G>A	NCI-TCGA
FZD2	Q14332	p.Gly561Ser	rs148517314	missense variant	-	NC_000017.11:g.44559369G>A	ESP,gnomAD
FZD2	Q14332	p.Thr563Ile	rs1213204785	missense variant	-	NC_000017.11:g.44559376C>T	gnomAD
FZD2	Q14332	p.Thr563Ile	rs1213204785	missense variant	-	NC_000017.11:g.44559376C>T	NCI-TCGA
FZD2	Q14332	p.Val565Leu	rs1265443674	missense variant	-	NC_000017.11:g.44559381G>T	gnomAD
FZD2	Q14332	p.Val565Gly	rs1370092002	missense variant	-	NC_000017.11:g.44559382T>G	gnomAD
IHH	Q14623	p.Pro3Leu	rs1276798591	missense variant	-	NC_000002.12:g.219060460G>A	TOPMed
IHH	Q14623	p.Ala4Asp	rs1233903791	missense variant	-	NC_000002.12:g.219060457G>T	TOPMed
IHH	Q14623	p.Ala4Ser	rs1343928445	missense variant	-	NC_000002.12:g.219060458C>A	gnomAD
IHH	Q14623	p.Arg5Leu	rs1249255858	missense variant	-	NC_000002.12:g.219060454C>A	gnomAD
IHH	Q14623	p.Arg7Trp	rs1331119432	missense variant	-	NC_000002.12:g.219060449G>A	gnomAD
IHH	Q14623	p.Arg7Gln	rs761363200	missense variant	-	NC_000002.12:g.219060448C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro8His	rs1345415443	missense variant	-	NC_000002.12:g.219060445G>T	gnomAD
IHH	Q14623	p.Pro8Thr	rs1403591976	missense variant	-	NC_000002.12:g.219060446G>T	gnomAD
IHH	Q14623	p.Arg9Gly	rs904571891	missense variant	-	NC_000002.12:g.219060443G>C	TOPMed,gnomAD
IHH	Q14623	p.Arg9Gln	rs751093402	missense variant	-	NC_000002.12:g.219060442C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg9Ter	rs904571891	stop gained	-	NC_000002.12:g.219060443G>A	TOPMed,gnomAD
IHH	Q14623	p.Leu10Met	rs1394617005	missense variant	-	NC_000002.12:g.219060440G>T	gnomAD
IHH	Q14623	p.His11Tyr	rs762517039	missense variant	-	NC_000002.12:g.219060437G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.His11Asn	rs762517039	missense variant	-	NC_000002.12:g.219060437G>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.His11Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219060436T>C	NCI-TCGA
IHH	Q14623	p.Cys13Arg	rs775302381	missense variant	-	NC_000002.12:g.219060431A>G	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Leu20Val	rs1483875270	missense variant	-	NC_000002.12:g.219060410G>C	TOPMed,gnomAD
IHH	Q14623	p.Val21Leu	rs1194822379	missense variant	-	NC_000002.12:g.219060407C>G	gnomAD
IHH	Q14623	p.Pro23Leu	rs902553944	missense variant	-	NC_000002.12:g.219060400G>A	TOPMed,gnomAD
IHH	Q14623	p.Pro23Arg	rs902553944	missense variant	-	NC_000002.12:g.219060400G>C	TOPMed,gnomAD
IHH	Q14623	p.Ala25Thr	rs1042787562	missense variant	-	NC_000002.12:g.219060395C>T	TOPMed,gnomAD
IHH	Q14623	p.Ala25Ser	rs1042787562	missense variant	-	NC_000002.12:g.219060395C>A	TOPMed,gnomAD
IHH	Q14623	p.Cys28Tyr	rs776751822	missense variant	-	NC_000002.12:g.219060385C>T	ExAC,gnomAD
IHH	Q14623	p.Cys28Ser	rs759516215	missense variant	-	NC_000002.12:g.219060386A>T	ExAC,gnomAD
IHH	Q14623	p.Gly29Arg	rs772253913	missense variant	-	NC_000002.12:g.219060383C>T	ExAC,gnomAD
IHH	Q14623	p.Gly31Arg	rs946706547	missense variant	-	NC_000002.12:g.219060377C>G	TOPMed
IHH	Q14623	p.Arg32Trp	rs1334302726	missense variant	-	NC_000002.12:g.219060374G>A	gnomAD
IHH	Q14623	p.Arg32Pro	rs748187623	missense variant	-	NC_000002.12:g.219060373C>G	ExAC,gnomAD
IHH	Q14623	p.Val33Ala	rs931261157	missense variant	-	NC_000002.12:g.219060370A>G	gnomAD
IHH	Q14623	p.Val33Gly	rs931261157	missense variant	-	NC_000002.12:g.219060370A>C	gnomAD
IHH	Q14623	p.Gly35Asp	rs774600015	missense variant	-	NC_000002.12:g.219060364C>T	ExAC,gnomAD
IHH	Q14623	p.Arg37Ser	rs768851392	missense variant	-	NC_000002.12:g.219060359G>T	ExAC,gnomAD
IHH	Q14623	p.Arg39Leu	rs1469349097	missense variant	-	NC_000002.12:g.219060352C>A	gnomAD
IHH	Q14623	p.Arg39Pro	COSM3838623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219060352C>G	NCI-TCGA Cosmic
IHH	Q14623	p.Arg39Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.219060353G>A	NCI-TCGA
IHH	Q14623	p.Pro40Thr	rs749484451	missense variant	-	NC_000002.12:g.219060350G>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg42Ser	rs780451969	missense variant	-	NC_000002.12:g.219060344G>T	ExAC,gnomAD
IHH	Q14623	p.Arg42His	rs1471050898	missense variant	-	NC_000002.12:g.219060343C>T	gnomAD
IHH	Q14623	p.Lys43Arg	rs746341121	missense variant	-	NC_000002.12:g.219060340T>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val45Met	rs1442704492	missense variant	-	NC_000002.12:g.219060335C>T	gnomAD
IHH	Q14623	p.Val45Gly	rs781629669	missense variant	-	NC_000002.12:g.219060334A>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro46Leu	RCV000009420	missense variant	Acrocapitofemoral dysplasia (ACFD)	NC_000002.12:g.219060331G>A	ClinVar
IHH	Q14623	p.Pro46Leu	rs121917856	missense variant	Acrocapitofemoral dysplasia (acfd)	NC_000002.12:g.219060331G>A	-
IHH	Q14623	p.Pro46Leu	rs121917856	missense variant	Acrocapitofemoral dysplasia (ACFD)	NC_000002.12:g.219060331G>A	UniProt,dbSNP
IHH	Q14623	p.Pro46Leu	VAR_015981	missense variant	Acrocapitofemoral dysplasia (ACFD)	NC_000002.12:g.219060331G>A	UniProt
IHH	Q14623	p.Leu47Phe	rs751004659	missense variant	-	NC_000002.12:g.219060329G>A	ExAC,gnomAD
IHH	Q14623	p.Ala48Val	rs752362743	missense variant	-	NC_000002.12:g.219060325G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala48Thr	rs758059980	missense variant	-	NC_000002.12:g.219060326C>T	ExAC,gnomAD
IHH	Q14623	p.Tyr49Cys	rs1245966925	missense variant	-	NC_000002.12:g.219060322T>C	gnomAD
IHH	Q14623	p.Gln51Lys	RCV000508633	missense variant	Hirschsprung disease 1 (HSCR1)	NC_000002.12:g.219060317G>T	ClinVar
IHH	Q14623	p.Gln51Lys	rs1553540620	missense variant	-	NC_000002.12:g.219060317G>T	-
IHH	Q14623	p.Ser53Gly	rs1342556433	missense variant	-	NC_000002.12:g.219060311T>C	gnomAD
IHH	Q14623	p.Asn55Ser	rs765052865	missense variant	-	NC_000002.12:g.219060304T>C	ExAC,gnomAD
IHH	Q14623	p.Asn55Asp	rs1244198503	missense variant	-	NC_000002.12:g.219060305T>C	TOPMed
IHH	Q14623	p.Val56Ala	COSM1405562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219060301A>G	NCI-TCGA Cosmic
IHH	Q14623	p.Pro57Ser	rs1329465985	missense variant	-	NC_000002.12:g.219060299G>A	TOPMed,gnomAD
IHH	Q14623	p.Thr60Ser	rs759450426	missense variant	-	NC_000002.12:g.219060289G>C	ExAC,gnomAD
IHH	Q14623	p.Leu61Val	rs776586756	missense variant	-	NC_000002.12:g.219060287G>C	ExAC,gnomAD
IHH	Q14623	p.Ala63Thr	rs1321173179	missense variant	-	NC_000002.12:g.219060281C>T	gnomAD
IHH	Q14623	p.Gly65Glu	COSM3838622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219060274C>T	NCI-TCGA Cosmic
IHH	Q14623	p.Arg66Cys	rs760689652	missense variant	-	NC_000002.12:g.219060272G>A	ExAC,gnomAD
IHH	Q14623	p.Arg66His	rs774431630	missense variant	-	NC_000002.12:g.219060271C>T	ExAC,gnomAD
IHH	Q14623	p.Tyr67Cys	rs768675737	missense variant	-	NC_000002.12:g.219060268T>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Glu68Gly	rs749520435	missense variant	-	NC_000002.12:g.219060265T>C	ExAC,gnomAD
IHH	Q14623	p.Gly69Ser	rs1285043208	missense variant	-	NC_000002.12:g.219060263C>T	TOPMed
IHH	Q14623	p.Gly69Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219060262C>A	NCI-TCGA
IHH	Q14623	p.Lys70Arg	rs1172909679	missense variant	-	NC_000002.12:g.219060259T>C	gnomAD
IHH	Q14623	p.Ala72Thr	rs1248153001	missense variant	-	NC_000002.12:g.219060254C>T	gnomAD
IHH	Q14623	p.Ala72Val	rs928107041	missense variant	-	NC_000002.12:g.219060253G>A	TOPMed
IHH	Q14623	p.Arg73His	COSM3798651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219060250C>T	NCI-TCGA Cosmic
IHH	Q14623	p.Glu76Ala	RCV000303662	missense variant	Brachydactyly	NC_000002.12:g.219060241T>G	ClinVar
IHH	Q14623	p.Glu76Ala	rs576284122	missense variant	-	NC_000002.12:g.219060241T>G	1000Genomes,ExAC,gnomAD
IHH	Q14623	p.GluArg76GluSer	rs886043368	missense variant	-	NC_000002.12:g.219060239_219060240delinsTT	-
IHH	Q14623	p.Arg77Ser	RCV000348092	missense variant	Brachydactyly	NC_000002.12:g.219060239G>T	ClinVar
IHH	Q14623	p.Arg77Ser	rs142036701	missense variant	-	NC_000002.12:g.219060239G>T	1000Genomes,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg77Ser	RCV000367731	missense variant	-	NC_000002.12:g.219060239_219060240delinsTT	ClinVar
IHH	Q14623	p.Lys79Asn	rs777335507	missense variant	-	NC_000002.12:g.219060231C>G	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Lys79Arg	rs1210814208	missense variant	-	NC_000002.12:g.219060232T>C	gnomAD
IHH	Q14623	p.Lys79Asn	rs777335507	missense variant	-	NC_000002.12:g.219060231C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Thr82Ala	rs143046822	missense variant	-	NC_000002.12:g.219060224T>C	ESP,ExAC,gnomAD
IHH	Q14623	p.Thr82Ile	rs752375465	missense variant	-	NC_000002.12:g.219060223G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro83Leu	rs1015309029	missense variant	-	NC_000002.12:g.219060220G>A	TOPMed,gnomAD
IHH	Q14623	p.Phe91Tyr	rs1400719929	missense variant	-	NC_000002.12:g.219060196A>T	TOPMed
IHH	Q14623	p.Asp93Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219060189G>C	NCI-TCGA
IHH	Q14623	p.Glu95Gly	RCV000009422	missense variant	Type A1 brachydactyly (BDA1)	NC_000002.12:g.219060184T>C	ClinVar
IHH	Q14623	p.Glu95Lys	RCV000009416	missense variant	Type A1 brachydactyly (BDA1)	NC_000002.12:g.219060185C>T	ClinVar
IHH	Q14623	p.Glu95Lys	rs121917852	missense variant	Brachydactyly A1 (BDA1)	NC_000002.12:g.219060185C>T	UniProt,dbSNP
IHH	Q14623	p.Glu95Lys	VAR_015982	missense variant	Brachydactyly A1 (BDA1)	NC_000002.12:g.219060185C>T	UniProt
IHH	Q14623	p.Glu95Lys	rs121917852	missense variant	-	NC_000002.12:g.219060185C>T	-
IHH	Q14623	p.Glu95Gly	rs121917859	missense variant	-	NC_000002.12:g.219060184T>C	-
IHH	Q14623	p.Asn96Lys	rs1395468336	missense variant	-	NC_000002.12:g.219060180G>T	TOPMed
IHH	Q14623	p.Ala99Thr	rs565981937	missense variant	-	NC_000002.12:g.219060173C>T	1000Genomes,ExAC,gnomAD
IHH	Q14623	p.Ala99Ser	rs565981937	missense variant	-	NC_000002.12:g.219060173C>A	1000Genomes,ExAC,gnomAD
IHH	Q14623	p.Asp100Asn	rs121917855	missense variant	Brachydactyly A1 (BDA1)	NC_000002.12:g.219060170C>T	UniProt,dbSNP
IHH	Q14623	p.Asp100Asn	VAR_015984	missense variant	Brachydactyly A1 (BDA1)	NC_000002.12:g.219060170C>T	UniProt
IHH	Q14623	p.Asp100Asn	rs121917855	missense variant	-	NC_000002.12:g.219060170C>T	gnomAD
IHH	Q14623	p.Asp100Glu	RCV000009418	missense variant	Type A1 brachydactyly (BDA1)	NC_000002.12:g.219060168G>T	ClinVar
IHH	Q14623	p.Asp100Asn	RCV000009419	missense variant	Type A1 brachydactyly (BDA1)	NC_000002.12:g.219060170C>T	ClinVar
IHH	Q14623	p.Asp100Glu	rs121917854	missense variant	Brachydactyly A1 (BDA1)	NC_000002.12:g.219060168G>T	UniProt,dbSNP
IHH	Q14623	p.Asp100Glu	VAR_015983	missense variant	Brachydactyly A1 (BDA1)	NC_000002.12:g.219060168G>T	UniProt
IHH	Q14623	p.Asp100Glu	rs121917854	missense variant	-	NC_000002.12:g.219060168G>T	-
IHH	Q14623	p.Arg101Ser	rs1379301732	missense variant	-	NC_000002.12:g.219060167G>T	TOPMed
IHH	Q14623	p.Gln105Leu	rs1200136536	missense variant	-	NC_000002.12:g.219060154T>A	gnomAD
IHH	Q14623	p.Gln105Ter	rs1239402017	stop gained	-	NC_000002.12:g.219060155G>A	gnomAD
IHH	Q14623	p.Arg106Cys	rs775959009	missense variant	-	NC_000002.12:g.219057694G>A	TOPMed
IHH	Q14623	p.Arg106Ser	rs775959009	missense variant	-	NC_000002.12:g.219057694G>T	TOPMed
IHH	Q14623	p.Arg110His	rs1317408368	missense variant	-	NC_000002.12:g.219057681C>T	gnomAD
IHH	Q14623	p.Arg110Ser	rs748917622	missense variant	-	NC_000002.12:g.219057682G>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg110Cys	rs748917622	missense variant	-	NC_000002.12:g.219057682G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg110Gly	rs748917622	missense variant	-	NC_000002.12:g.219057682G>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala115Thr	rs1315245540	missense variant	-	NC_000002.12:g.219057667C>T	gnomAD
IHH	Q14623	p.Ala115Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219057667C>A	NCI-TCGA
IHH	Q14623	p.Val118Met	rs1454141074	missense variant	-	NC_000002.12:g.219057658C>T	gnomAD
IHH	Q14623	p.Trp122Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219057646A>T	NCI-TCGA
IHH	Q14623	p.Pro123Ser	rs1217838827	missense variant	-	NC_000002.12:g.219057643G>A	gnomAD
IHH	Q14623	p.Gly124Ala	rs1458273352	missense variant	-	NC_000002.12:g.219057639C>G	gnomAD
IHH	Q14623	p.Gly124Ser	rs937019915	missense variant	-	NC_000002.12:g.219057640C>T	gnomAD
IHH	Q14623	p.Arg128Gln	rs267606873	missense variant	-	NC_000002.12:g.219057627C>T	-
IHH	Q14623	p.Arg128Gln	RCV000009425	missense variant	Type A1 brachydactyly (BDA1)	NC_000002.12:g.219057627C>T	ClinVar
IHH	Q14623	p.Thr130Asn	RCV000009426	missense variant	Type A1 brachydactyly (BDA1)	NC_000002.12:g.219057621G>T	ClinVar
IHH	Q14623	p.Thr130Asn	rs267606872	missense variant	-	NC_000002.12:g.219057621G>T	-
IHH	Q14623	p.Glu131Lys	RCV000009417	missense variant	Type A1 brachydactyly (BDA1)	NC_000002.12:g.219057619C>T	ClinVar
IHH	Q14623	p.Glu131Lys	rs121917853	missense variant	-	NC_000002.12:g.219057619C>T	-
IHH	Q14623	p.Glu131Lys	rs121917853	missense variant	Brachydactyly A1 (BDA1)	NC_000002.12:g.219057619C>T	UniProt,dbSNP
IHH	Q14623	p.Glu131Lys	VAR_015985	missense variant	Brachydactyly A1 (BDA1)	NC_000002.12:g.219057619C>T	UniProt
IHH	Q14623	p.Trp133Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219057613A>G	NCI-TCGA
IHH	Q14623	p.Asp134Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219057610C>T	NCI-TCGA
IHH	Q14623	p.Gly137Asp	rs781056728	missense variant	-	NC_000002.12:g.219057600C>T	ExAC,gnomAD
IHH	Q14623	p.Glu142Lys	rs751582748	missense variant	-	NC_000002.12:g.219057586C>T	ExAC,gnomAD
IHH	Q14623	p.His145Tyr	rs765272765	missense variant	-	NC_000002.12:g.219057577G>A	ExAC,gnomAD
IHH	Q14623	p.His145Asn	rs765272765	missense variant	-	NC_000002.12:g.219057577G>T	ExAC,gnomAD
IHH	Q14623	p.Arg149His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219057564C>T	NCI-TCGA
IHH	Q14623	p.Ile153Val	rs1262414128	missense variant	-	NC_000002.12:g.219057553T>C	gnomAD
IHH	Q14623	p.Thr154Ile	RCV000009423	missense variant	Type A1 brachydactyly (BDA1)	NC_000002.12:g.219057549G>A	ClinVar
IHH	Q14623	p.Thr154Ile	rs121917861	missense variant	-	NC_000002.12:g.219057549G>A	-
IHH	Q14623	p.Ser156Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219057543G>A	NCI-TCGA
IHH	Q14623	p.Arg160Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219057531C>A	NCI-TCGA
IHH	Q14623	p.Asn161Ser	rs1316070321	missense variant	-	NC_000002.12:g.219057528T>C	gnomAD
IHH	Q14623	p.Asn161His	rs949833722	missense variant	-	NC_000002.12:g.219057529T>G	TOPMed,gnomAD
IHH	Q14623	p.Lys162Asn	rs1247774141	missense variant	-	NC_000002.12:g.219057524C>A	gnomAD
IHH	Q14623	p.Tyr163His	rs1429547159	missense variant	-	NC_000002.12:g.219057523A>G	TOPMed
IHH	Q14623	p.Leu166Met	rs773386517	missense variant	-	NC_000002.12:g.219057514G>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg168His	COSM1405560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219057507C>T	NCI-TCGA Cosmic
IHH	Q14623	p.Arg168Gly	rs767980207	missense variant	-	NC_000002.12:g.219057508G>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg168Cys	rs767980207	missense variant	-	NC_000002.12:g.219057508G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala173Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219057493C>T	NCI-TCGA
IHH	Q14623	p.Gly174Arg	rs1446009927	missense variant	-	NC_000002.12:g.219057490C>G	TOPMed,gnomAD
IHH	Q14623	p.Tyr180Ter	rs768257762	stop gained	-	NC_000002.12:g.219057470G>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Glu181Gln	rs1366539763	missense variant	-	NC_000002.12:g.219057469C>G	gnomAD
IHH	Q14623	p.Ser182Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.219057465G>C	NCI-TCGA
IHH	Q14623	p.Ala184Asp	rs868103206	missense variant	-	NC_000002.12:g.219057459G>T	gnomAD
IHH	Q14623	p.Ala184Val	rs868103206	missense variant	-	NC_000002.12:g.219057459G>A	gnomAD
IHH	Q14623	p.His185Arg	rs1423023362	missense variant	-	NC_000002.12:g.219057456T>C	gnomAD
IHH	Q14623	p.Val186Met	rs1384826965	missense variant	-	NC_000002.12:g.219057454C>T	gnomAD
IHH	Q14623	p.Val190Ala	RCV000009421	missense variant	Acrocapitofemoral dysplasia (ACFD)	NC_000002.12:g.219057441A>G	ClinVar
IHH	Q14623	p.Val190Ile	rs1246462808	missense variant	-	NC_000002.12:g.219057442C>T	TOPMed
IHH	Q14623	p.Val190Ala	rs121917857	missense variant	Acrocapitofemoral dysplasia (ACFD)	NC_000002.12:g.219057441A>G	UniProt,dbSNP
IHH	Q14623	p.Val190Ala	VAR_015986	missense variant	Acrocapitofemoral dysplasia (ACFD)	NC_000002.12:g.219057441A>G	UniProt
IHH	Q14623	p.Val190Ala	rs121917857	missense variant	Acrocapitofemoral dysplasia (acfd)	NC_000002.12:g.219057441A>G	-
IHH	Q14623	p.Glu193Lys	rs745592533	missense variant	-	NC_000002.12:g.219057433C>T	ExAC,gnomAD
IHH	Q14623	p.Glu193Asp	rs1425556554	missense variant	-	NC_000002.12:g.219055864C>G	TOPMed
IHH	Q14623	p.His194Tyr	rs1394595013	missense variant	-	NC_000002.12:g.219055863G>A	gnomAD
IHH	Q14623	p.Ser195Leu	COSM3577877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219055859G>A	NCI-TCGA Cosmic
IHH	Q14623	p.Ser195Trp	rs775129096	missense variant	-	NC_000002.12:g.219055859G>C	ExAC,gnomAD
IHH	Q14623	p.Ala196Val	rs866706196	missense variant	-	NC_000002.12:g.219055856G>A	gnomAD
IHH	Q14623	p.Ala197Ser	rs746768477	missense variant	-	NC_000002.12:g.219055854C>A	ExAC,gnomAD
IHH	Q14623	p.Ala197Thr	rs746768477	missense variant	-	NC_000002.12:g.219055854C>T	ExAC,gnomAD
IHH	Q14623	p.Ala198Thr	rs1376896593	missense variant	-	NC_000002.12:g.219055851C>T	gnomAD
IHH	Q14623	p.Thr200Met	rs200082799	missense variant	-	NC_000002.12:g.219055844G>A	1000Genomes,gnomAD
IHH	Q14623	p.Thr200Ala	rs777551994	missense variant	-	NC_000002.12:g.219055845T>C	ExAC,gnomAD
IHH	Q14623	p.Gly201Asp	rs779989510	missense variant	-	NC_000002.12:g.219055841C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly201Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055841C>A	NCI-TCGA
IHH	Q14623	p.Gly202Cys	rs750588083	missense variant	-	NC_000002.12:g.219055839C>A	ExAC,gnomAD
IHH	Q14623	p.Gly202Ser	rs750588083	missense variant	-	NC_000002.12:g.219055839C>T	ExAC,gnomAD
IHH	Q14623	p.Gly202Asp	rs781424397	missense variant	-	NC_000002.12:g.219055838C>T	ExAC
IHH	Q14623	p.Ala206Ser	rs751916533	missense variant	-	NC_000002.12:g.219055827C>A	ExAC,gnomAD
IHH	Q14623	p.Gly207Glu	rs563824337	missense variant	-	NC_000002.12:g.219055823C>T	1000Genomes,ExAC,gnomAD
IHH	Q14623	p.Gly207Arg	rs148084426	missense variant	-	NC_000002.12:g.219055824C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly207Arg	rs148084426	missense variant	-	NC_000002.12:g.219055824C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg211Cys	rs3731880	missense variant	-	NC_000002.12:g.219055812G>A	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg211Leu	rs200898513	missense variant	-	NC_000002.12:g.219055811C>A	1000Genomes,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg211His	rs200898513	missense variant	-	NC_000002.12:g.219055811C>T	1000Genomes,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Glu213Lys	rs1401393747	missense variant	-	NC_000002.12:g.219055806C>T	gnomAD
IHH	Q14623	p.Ser214Asn	rs772975827	missense variant	-	NC_000002.12:g.219055802C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly215Arg	rs1455090670	missense variant	-	NC_000002.12:g.219055800C>T	gnomAD
IHH	Q14623	p.Ala216Glu	rs142245478	missense variant	-	NC_000002.12:g.219055796G>T	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala216Thr	rs771917189	missense variant	-	NC_000002.12:g.219055797C>T	ExAC,gnomAD
IHH	Q14623	p.Ala216Val	rs142245478	missense variant	-	NC_000002.12:g.219055796G>A	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala216Gly	rs142245478	missense variant	-	NC_000002.12:g.219055796G>C	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg217Cys	rs1244499290	missense variant	-	NC_000002.12:g.219055794G>A	TOPMed,gnomAD
IHH	Q14623	p.Arg217His	rs145192358	missense variant	-	NC_000002.12:g.219055793C>T	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg217Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055793C>A	NCI-TCGA
IHH	Q14623	p.Val218Met	rs1461317589	missense variant	-	NC_000002.12:g.219055791C>T	gnomAD
IHH	Q14623	p.Ala219Thr	rs575127642	missense variant	-	NC_000002.12:g.219055788C>T	1000Genomes
IHH	Q14623	p.Ala219Val	rs553377564	missense variant	-	NC_000002.12:g.219055787G>A	1000Genomes,ExAC,gnomAD
IHH	Q14623	p.Ser221Leu	rs1348928573	missense variant	-	NC_000002.12:g.219055781G>A	gnomAD
IHH	Q14623	p.Val223Met	rs778251745	missense variant	-	NC_000002.12:g.219055776C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg224Ser	rs369651063	missense variant	-	NC_000002.12:g.219055771C>G	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro225Leu	rs572724795	missense variant	-	NC_000002.12:g.219055769G>A	1000Genomes,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly226Arg	rs1301637650	missense variant	-	NC_000002.12:g.219055767C>T	TOPMed
IHH	Q14623	p.Asp227Asn	rs759968348	missense variant	-	NC_000002.12:g.219055764C>T	ExAC,gnomAD
IHH	Q14623	p.Arg228His	rs753334217	missense variant	-	NC_000002.12:g.219055760C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val229Ala	rs765861007	missense variant	-	NC_000002.12:g.219055757A>G	ExAC,gnomAD
IHH	Q14623	p.Met232Val	rs1424969376	missense variant	-	NC_000002.12:g.219055749T>C	gnomAD
IHH	Q14623	p.Gly233Glu	rs771831287	missense variant	-	NC_000002.12:g.219055745C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Glu234Lys	rs1327303182	missense variant	-	NC_000002.12:g.219055743C>T	TOPMed
IHH	Q14623	p.Asp235Ala	rs774042639	missense variant	-	NC_000002.12:g.219055739T>G	ExAC,gnomAD
IHH	Q14623	p.Ser237Gly	rs768570919	missense variant	-	NC_000002.12:g.219055734T>C	ExAC,gnomAD
IHH	Q14623	p.Thr239Ile	rs547226063	missense variant	-	NC_000002.12:g.219055727G>A	gnomAD
IHH	Q14623	p.Phe240Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055723G>T	NCI-TCGA
IHH	Q14623	p.Asp242Asn	rs771174829	missense variant	-	NC_000002.12:g.219055719C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Phe246Ile	rs368103042	missense variant	-	NC_000002.12:g.219055707A>T	ESP,TOPMed,gnomAD
IHH	Q14623	p.Phe246Leu	rs368103042	missense variant	-	NC_000002.12:g.219055707A>G	ESP,TOPMed,gnomAD
IHH	Q14623	p.Phe246Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055705G>T	NCI-TCGA
IHH	Q14623	p.Arg249His	rs778096124	missense variant	-	NC_000002.12:g.219055697C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg249Cys	rs1270728079	missense variant	-	NC_000002.12:g.219055698G>A	TOPMed,gnomAD
IHH	Q14623	p.Glu250Ter	COSM6157022	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.219055695C>A	NCI-TCGA Cosmic
IHH	Q14623	p.Pro251Thr	rs779162629	missense variant	-	NC_000002.12:g.219055692G>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.His252Arg	RCV000293234	missense variant	Brachydactyly	NC_000002.12:g.219055688T>C	ClinVar
IHH	Q14623	p.His252Arg	rs76479554	missense variant	-	NC_000002.12:g.219055688T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg253Ter	COSM1405559	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.219055683_219055686GCCT>-	NCI-TCGA Cosmic
IHH	Q14623	p.Arg255Thr	rs1404279164	missense variant	-	NC_000002.12:g.219055679C>G	gnomAD
IHH	Q14623	p.Ala256Pro	rs755666903	missense variant	-	NC_000002.12:g.219055677C>G	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala256Val	rs749956866	missense variant	-	NC_000002.12:g.219055676G>A	ExAC,gnomAD
IHH	Q14623	p.Ala256Thr	rs755666903	missense variant	-	NC_000002.12:g.219055677C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Phe257Tyr	rs767114404	missense variant	-	NC_000002.12:g.219055673A>T	ExAC,gnomAD
IHH	Q14623	p.Gln258Ter	rs774428201	stop gained	-	NC_000002.12:g.219055671G>A	ExAC,gnomAD
IHH	Q14623	p.Gln258His	rs1490926405	missense variant	-	NC_000002.12:g.219055669C>G	gnomAD
IHH	Q14623	p.Val259Phe	rs774137730	missense variant	-	NC_000002.12:g.219055668C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val259Ile	rs774137730	missense variant	-	NC_000002.12:g.219055668C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Glu261Lys	rs762916918	missense variant	-	NC_000002.12:g.219055662C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gln263His	rs1315995534	missense variant	-	NC_000002.12:g.219055654C>A	gnomAD
IHH	Q14623	p.Gln263Ter	rs1212877137	stop gained	-	NC_000002.12:g.219055656G>A	gnomAD
IHH	Q14623	p.Asp264Glu	rs747049125	missense variant	-	NC_000002.12:g.219055651G>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Asp264Val	rs775340016	missense variant	-	NC_000002.12:g.219055652T>A	ExAC,gnomAD
IHH	Q14623	p.Asp264Val	RCV000762321	missense variant	-	NC_000002.12:g.219055652T>A	ClinVar
IHH	Q14623	p.Pro266HisPheSerTerUnkUnk	COSM1405558	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.219055646G>-	NCI-TCGA Cosmic
IHH	Q14623	p.Pro266Leu	rs773432715	missense variant	-	NC_000002.12:g.219055646G>A	ExAC,gnomAD
IHH	Q14623	p.Pro266Arg	rs773432715	missense variant	-	NC_000002.12:g.219055646G>C	ExAC,gnomAD
IHH	Q14623	p.Arg267Ser	RCV000375895	missense variant	Brachydactyly	NC_000002.12:g.219055644G>T	ClinVar
IHH	Q14623	p.Arg267Gly	rs748379688	missense variant	-	NC_000002.12:g.219055644G>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg267His	rs1036487197	missense variant	-	NC_000002.12:g.219055643C>T	TOPMed,gnomAD
IHH	Q14623	p.Arg267Ser	rs748379688	missense variant	-	NC_000002.12:g.219055644G>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg267Cys	rs748379688	missense variant	-	NC_000002.12:g.219055644G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg268Leu	rs371913717	missense variant	-	NC_000002.12:g.219055640C>A	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg268Cys	rs779327335	missense variant	-	NC_000002.12:g.219055641G>A	ExAC,gnomAD
IHH	Q14623	p.Arg268His	rs371913717	missense variant	-	NC_000002.12:g.219055640C>T	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala270Val	rs749777278	missense variant	-	NC_000002.12:g.219055634G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro273Leu	rs749868998	missense variant	-	NC_000002.12:g.219055625G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro273Thr	rs756644181	missense variant	-	NC_000002.12:g.219055626G>T	ExAC,gnomAD
IHH	Q14623	p.Pro273Ser	rs756644181	missense variant	-	NC_000002.12:g.219055626G>A	ExAC,gnomAD
IHH	Q14623	p.Ala274Thr	rs148349850	missense variant	-	NC_000002.12:g.219055623C>T	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Phe278ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.219055611_219055612insGAGCAGGT	NCI-TCGA
IHH	Q14623	p.Thr279Met	rs776499803	missense variant	-	NC_000002.12:g.219055607G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala280LeuPheSerTerUnkUnk	COSM1016565	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.219055605C>-	NCI-TCGA Cosmic
IHH	Q14623	p.Asp281Gly	COSM4839768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219055601T>C	NCI-TCGA Cosmic
IHH	Q14623	p.Thr284Met	rs1257383778	missense variant	-	NC_000002.12:g.219055592G>A	TOPMed,gnomAD
IHH	Q14623	p.Glu285Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055590C>T	NCI-TCGA
IHH	Q14623	p.Pro286Leu	RCV000261343	missense variant	Brachydactyly	NC_000002.12:g.219055586G>A	ClinVar
IHH	Q14623	p.Pro286Ser	rs775460776	missense variant	-	NC_000002.12:g.219055587G>A	ExAC,gnomAD
IHH	Q14623	p.Pro286Leu	rs140093604	missense variant	-	NC_000002.12:g.219055586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala287Val	rs1368717565	missense variant	-	NC_000002.12:g.219055583G>A	TOPMed
IHH	Q14623	p.Ala288Ser	rs1373609433	missense variant	-	NC_000002.12:g.219055581C>A	TOPMed,gnomAD
IHH	Q14623	p.Arg289Pro	rs13415309	missense variant	-	NC_000002.12:g.219055577C>G	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg289Cys	rs138163374	missense variant	-	NC_000002.12:g.219055578G>A	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg289His	rs13415309	missense variant	-	NC_000002.12:g.219055577C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg289Leu	rs13415309	missense variant	-	NC_000002.12:g.219055577C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg289TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.219055544_219055578GGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCG>-	NCI-TCGA
IHH	Q14623	p.Phe290Ser	rs1375466917	missense variant	-	NC_000002.12:g.219055574A>G	gnomAD
IHH	Q14623	p.Arg291Gln	rs370408334	missense variant	-	NC_000002.12:g.219055571C>T	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg291Trp	rs374817008	missense variant	-	NC_000002.12:g.219055572G>A	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala292Ser	rs1000671214	missense variant	-	NC_000002.12:g.219055569C>A	gnomAD
IHH	Q14623	p.Thr293Ala	rs969196812	missense variant	-	NC_000002.12:g.219055566T>C	TOPMed,gnomAD
IHH	Q14623	p.Phe294Ile	rs1192290798	missense variant	-	NC_000002.12:g.219055563A>T	gnomAD
IHH	Q14623	p.Ser296Cys	rs780399315	missense variant	-	NC_000002.12:g.219055557T>A	ExAC,gnomAD
IHH	Q14623	p.His297Gln	rs527633446	missense variant	-	NC_000002.12:g.219055552G>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val298Met	rs142182864	missense variant	-	NC_000002.12:g.219055551C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val298Leu	rs142182864	missense variant	-	NC_000002.12:g.219055551C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val298Leu	rs142182864	missense variant	-	NC_000002.12:g.219055551C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gln299His	rs751104269	missense variant	-	NC_000002.12:g.219055546C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly301Asp	rs777252539	missense variant	-	NC_000002.12:g.219055541C>T	ExAC,gnomAD
IHH	Q14623	p.Tyr303Ter	rs758078057	stop gained	-	NC_000002.12:g.219055534G>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val304Leu	rs752484924	missense variant	-	NC_000002.12:g.219055533C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val304Leu	rs752484924	missense variant	-	NC_000002.12:g.219055533C>G	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val304Met	rs752484924	missense variant	-	NC_000002.12:g.219055533C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val306Leu	rs1012327477	missense variant	-	NC_000002.12:g.219055527C>A	TOPMed
IHH	Q14623	p.Val306Ala	rs1163877821	missense variant	-	NC_000002.12:g.219055526A>G	TOPMed
IHH	Q14623	p.Gly308Trp	rs765186273	missense variant	-	NC_000002.12:g.219055521C>A	ExAC,gnomAD
IHH	Q14623	p.Val309Gly	rs753863508	missense variant	-	NC_000002.12:g.219055517A>C	ExAC,gnomAD
IHH	Q14623	p.Val309Met	rs759546196	missense variant	-	NC_000002.12:g.219055518C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro310Ser	rs761748117	missense variant	-	NC_000002.12:g.219055515G>A	ExAC,gnomAD
IHH	Q14623	p.Gln313Lys	rs563762011	missense variant	-	NC_000002.12:g.219055506G>T	1000Genomes,TOPMed
IHH	Q14623	p.Gln313Glu	rs563762011	missense variant	-	NC_000002.12:g.219055506G>C	1000Genomes,TOPMed
IHH	Q14623	p.Pro314Leu	rs775818911	missense variant	-	NC_000002.12:g.219055502G>A	ExAC,gnomAD
IHH	Q14623	p.Pro314Ser	rs763174681	missense variant	-	NC_000002.12:g.219055503G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro314His	rs775818911	missense variant	-	NC_000002.12:g.219055502G>T	ExAC,gnomAD
IHH	Q14623	p.Ala315Thr	rs542378884	missense variant	-	NC_000002.12:g.219055500C>T	1000Genomes
IHH	Q14623	p.Arg316His	rs745408084	missense variant	-	NC_000002.12:g.219055496C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg316Pro	rs745408084	missense variant	-	NC_000002.12:g.219055496C>G	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg316Cys	rs771622789	missense variant	-	NC_000002.12:g.219055497G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val317Met	RCV000278072	missense variant	-	NC_000002.12:g.219055494C>T	ClinVar
IHH	Q14623	p.Val317Met	rs886044074	missense variant	-	NC_000002.12:g.219055494C>T	gnomAD
IHH	Q14623	p.Ala318Thr	rs1181169500	missense variant	-	NC_000002.12:g.219055491C>T	gnomAD
IHH	Q14623	p.Ala319Thr	rs1486135981	missense variant	-	NC_000002.12:g.219055488C>T	gnomAD
IHH	Q14623	p.Val320Ile	rs1211149163	missense variant	-	NC_000002.12:g.219055485C>T	TOPMed,gnomAD
IHH	Q14623	p.Val320Leu	rs1211149163	missense variant	-	NC_000002.12:g.219055485C>G	TOPMed,gnomAD
IHH	Q14623	p.Ser321Cys	rs1214160350	missense variant	-	NC_000002.12:g.219055481G>C	gnomAD
IHH	Q14623	p.Thr322Ala	rs746441526	missense variant	-	NC_000002.12:g.219055479T>C	ExAC,gnomAD
IHH	Q14623	p.His323Gln	rs76578869	missense variant	-	NC_000002.12:g.219055474G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val324Met	rs370788126	missense variant	-	NC_000002.12:g.219055473C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Leu326Pro	rs1040660544	missense variant	-	NC_000002.12:g.219055466A>G	gnomAD
IHH	Q14623	p.Gly327Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055464C>T	NCI-TCGA
IHH	Q14623	p.Ala328Ter	RCV000734376	frameshift	-	NC_000002.12:g.219055464del	ClinVar
IHH	Q14623	p.Ala330Thr	rs754864301	missense variant	-	NC_000002.12:g.219055455C>T	ExAC,gnomAD
IHH	Q14623	p.Pro331Leu	rs367575081	missense variant	-	NC_000002.12:g.219055451G>A	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro331Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055452G>A	NCI-TCGA
IHH	Q14623	p.Gly336Val	rs1305132342	missense variant	-	NC_000002.12:g.219055436C>A	gnomAD
IHH	Q14623	p.Val339Met	rs1422855719	missense variant	-	NC_000002.12:g.219055428C>T	gnomAD
IHH	Q14623	p.Glu341Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055422C>G	NCI-TCGA
IHH	Q14623	p.Ala349Ser	rs557425123	missense variant	-	NC_000002.12:g.219055398C>A	1000Genomes,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala349Val	rs777059543	missense variant	-	NC_000002.12:g.219055397G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ala349Thr	rs557425123	missense variant	-	NC_000002.12:g.219055398C>T	1000Genomes,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val351Met	rs143959492	missense variant	-	NC_000002.12:g.219055392C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Val351Met	RCV000398677	missense variant	-	NC_000002.12:g.219055392C>T	ClinVar
IHH	Q14623	p.Ala352Thr	rs1487290982	missense variant	-	NC_000002.12:g.219055389C>T	gnomAD
IHH	Q14623	p.Ala352Ser	rs1487290982	missense variant	-	NC_000002.12:g.219055389C>A	gnomAD
IHH	Q14623	p.His355Tyr	COSM6090504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219055380G>A	NCI-TCGA Cosmic
IHH	Q14623	p.Ala357Ser	rs1309783315	missense variant	-	NC_000002.12:g.219055374C>A	gnomAD
IHH	Q14623	p.Ala357Asp	rs1288500385	missense variant	-	NC_000002.12:g.219055373G>T	TOPMed
IHH	Q14623	p.Gln358Pro	rs771656568	missense variant	-	NC_000002.12:g.219055370T>G	ExAC,gnomAD
IHH	Q14623	p.Phe361Leu	rs763496709	missense variant	-	NC_000002.12:g.219055362A>G	TOPMed,gnomAD
IHH	Q14623	p.Trp362Ser	rs778656169	missense variant	-	NC_000002.12:g.219055358C>G	ExAC,gnomAD
IHH	Q14623	p.Pro363His	rs1390269799	missense variant	-	NC_000002.12:g.219055355G>T	gnomAD
IHH	Q14623	p.Leu364Val	rs931968868	missense variant	-	NC_000002.12:g.219055353G>C	TOPMed,gnomAD
IHH	Q14623	p.Arg365Lys	rs778358400	missense variant	-	NC_000002.12:g.219055349C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg365Ile	rs778358400	missense variant	-	NC_000002.12:g.219055349C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ser369Gly	rs1168400033	missense variant	-	NC_000002.12:g.219055338T>C	gnomAD
IHH	Q14623	p.Leu370Trp	rs750440817	missense variant	-	NC_000002.12:g.219055334A>C	ExAC,gnomAD
IHH	Q14623	p.Leu370Met	rs755991378	missense variant	-	NC_000002.12:g.219055335A>T	ExAC,gnomAD
IHH	Q14623	p.Ala371Val	rs1429802102	missense variant	-	NC_000002.12:g.219055331G>A	gnomAD
IHH	Q14623	p.Ala371Pro	rs574926285	missense variant	-	NC_000002.12:g.219055332C>G	1000Genomes
IHH	Q14623	p.Gly373Asp	rs764058706	missense variant	-	NC_000002.12:g.219055325C>T	ExAC,gnomAD
IHH	Q14623	p.Trp375Ter	rs1381498688	stop gained	-	NC_000002.12:g.219055318C>T	gnomAD
IHH	Q14623	p.Thr376Ala	rs758424526	missense variant	-	NC_000002.12:g.219055317T>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Thr376Ile	rs752807252	missense variant	-	NC_000002.12:g.219055316G>A	ExAC,gnomAD
IHH	Q14623	p.Thr376Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055317T>A	NCI-TCGA
IHH	Q14623	p.Pro377Ser	COSM3577873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219055314G>A	NCI-TCGA Cosmic
IHH	Q14623	p.Pro377Leu	rs532767918	missense variant	-	NC_000002.12:g.219055313G>A	1000Genomes,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro377ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.219055315A>-	NCI-TCGA
IHH	Q14623	p.Gly378Glu	rs201214780	missense variant	-	NC_000002.12:g.219055310C>T	ExAC,gnomAD
IHH	Q14623	p.Gly378Val	rs201214780	missense variant	-	NC_000002.12:g.219055310C>A	ExAC,gnomAD
IHH	Q14623	p.Gly378Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055311C>G	NCI-TCGA
IHH	Q14623	p.Glu379Gly	COSM1016563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.219055307T>C	NCI-TCGA Cosmic
IHH	Q14623	p.Glu379ArgPheSerTerUnkUnk	COSM5081746	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.219055308C>-	NCI-TCGA Cosmic
IHH	Q14623	p.Glu379Asp	rs761059577	missense variant	-	NC_000002.12:g.219055306C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly380Cys	rs773814022	missense variant	-	NC_000002.12:g.219055305C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly380Asp	rs772724697	missense variant	-	NC_000002.12:g.219055304C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly380Ser	rs773814022	missense variant	-	NC_000002.12:g.219055305C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Pro385Ser	rs1330758481	missense variant	-	NC_000002.12:g.219055290G>A	gnomAD
IHH	Q14623	p.Pro385Arg	rs1485282541	missense variant	-	NC_000002.12:g.219055289G>C	gnomAD
IHH	Q14623	p.Gln386His	rs1399979548	missense variant	-	NC_000002.12:g.219055285C>A	TOPMed
IHH	Q14623	p.Gln386Arg	rs1307920153	missense variant	-	NC_000002.12:g.219055286T>C	gnomAD
IHH	Q14623	p.Gln386SerPheSerTerUnkUnk	COSM1405556	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.219055287G>-	NCI-TCGA Cosmic
IHH	Q14623	p.Arg390His	RCV000293197	missense variant	-	NC_000002.12:g.219055274C>T	ClinVar
IHH	Q14623	p.Arg390Cys	rs774000427	missense variant	-	NC_000002.12:g.219055275G>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg390Leu	rs150661368	missense variant	-	NC_000002.12:g.219055274C>A	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg390His	rs150661368	missense variant	-	NC_000002.12:g.219055274C>T	ESP,ExAC,TOPMed,gnomAD
IHH	Q14623	p.Leu391Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.219055271A>G	NCI-TCGA
IHH	Q14623	p.Gly392Glu	rs1465095930	missense variant	-	NC_000002.12:g.219055268C>T	TOPMed,gnomAD
IHH	Q14623	p.Gly392Val	rs1465095930	missense variant	-	NC_000002.12:g.219055268C>A	TOPMed,gnomAD
IHH	Q14623	p.Arg393His	rs779709195	missense variant	-	NC_000002.12:g.219055265C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Arg393Cys	rs749026365	missense variant	-	NC_000002.12:g.219055266G>A	ExAC
IHH	Q14623	p.Arg393ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.219055267C>-	NCI-TCGA
IHH	Q14623	p.Leu394Arg	rs1174114135	missense variant	-	NC_000002.12:g.219055262A>C	gnomAD
IHH	Q14623	p.Leu395Val	rs894789291	missense variant	-	NC_000002.12:g.219055260G>C	TOPMed
IHH	Q14623	p.Glu398Asp	rs748831066	missense variant	-	NC_000002.12:g.219055249C>G	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Glu398Lys	rs1376736357	missense variant	-	NC_000002.12:g.219055251C>T	gnomAD
IHH	Q14623	p.Gly399Cys	rs745673493	missense variant	-	NC_000002.12:g.219055248C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly399Ser	rs745673493	missense variant	-	NC_000002.12:g.219055248C>T	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Ser400Gly	rs1177452772	missense variant	-	NC_000002.12:g.219055245T>C	gnomAD
IHH	Q14623	p.Ser400Asn	rs1462205737	missense variant	-	NC_000002.12:g.219055244C>T	gnomAD
IHH	Q14623	p.His402Tyr	rs765362312	missense variant	-	NC_000002.12:g.219055239G>A	ExAC,gnomAD
IHH	Q14623	p.Pro403Ser	rs1484081466	missense variant	-	NC_000002.12:g.219055236G>A	TOPMed
IHH	Q14623	p.Gly405Asp	rs1003678965	missense variant	-	NC_000002.12:g.219055229C>T	TOPMed
IHH	Q14623	p.Gly405Ser	rs1344706805	missense variant	-	NC_000002.12:g.219055230C>T	gnomAD
IHH	Q14623	p.Met406Ile	rs1241509400	missense variant	-	NC_000002.12:g.219055225C>T	TOPMed,gnomAD
IHH	Q14623	p.Met406Val	rs755191317	missense variant	-	NC_000002.12:g.219055227T>C	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly408Arg	rs200216644	missense variant	-	NC_000002.12:g.219055221C>T	1000Genomes,TOPMed,gnomAD
IHH	Q14623	p.Gly408Val	rs766634456	missense variant	-	NC_000002.12:g.219055220C>A	ExAC,TOPMed,gnomAD
IHH	Q14623	p.Gly410Glu	rs761046773	missense variant	-	NC_000002.12:g.219055214C>T	ExAC,gnomAD
IHH	Q14623	p.Gly410Arg	rs1383459688	missense variant	-	NC_000002.12:g.219055215C>G	gnomAD
LBR	Q14739	p.Pro2Gln	rs1250803200	missense variant	-	NC_000001.11:g.225424071G>T	gnomAD
LBR	Q14739	p.Pro2Leu	rs1250803200	missense variant	-	NC_000001.11:g.225424071G>A	gnomAD
LBR	Q14739	p.Ser3Asn	rs746311894	missense variant	-	NC_000001.11:g.225424068C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser3Gly	rs1481485031	missense variant	-	NC_000001.11:g.225424069T>C	gnomAD
LBR	Q14739	p.Arg4Gly	rs781666925	missense variant	-	NC_000001.11:g.225424066T>C	ExAC,gnomAD
LBR	Q14739	p.Arg4Ser	rs1274464371	missense variant	-	NC_000001.11:g.225424064C>A	gnomAD
LBR	Q14739	p.Asp8Tyr	rs764873714	missense variant	-	NC_000001.11:g.225424054C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp8Asn	rs764873714	missense variant	-	NC_000001.11:g.225424054C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val11Ter	RCV000087266	frameshift	Pelger-Huët anomaly (PHA)	NC_000001.11:g.225424041_225424044del	ClinVar
LBR	Q14739	p.Val11Ter	RCV000087265	frameshift	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225424041_225424044del	ClinVar
LBR	Q14739	p.Val12Ile	rs766117275	missense variant	-	NC_000001.11:g.225424042C>T	ExAC,gnomAD
LBR	Q14739	p.Gly14Ser	rs773037367	missense variant	-	NC_000001.11:g.225424036C>T	ExAC,gnomAD
LBR	Q14739	p.Arg15Gln	rs767247360	missense variant	-	NC_000001.11:g.225424032C>T	ExAC,gnomAD
LBR	Q14739	p.Arg15Ter	rs192681330	stop gained	-	NC_000001.11:g.225424033G>A	1000Genomes,TOPMed,gnomAD
LBR	Q14739	p.Trp16Ter	rs1411225492	stop gained	-	NC_000001.11:g.225424028C>T	gnomAD
LBR	Q14739	p.Pro17Ser	rs188150385	missense variant	-	NC_000001.11:g.225424027G>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Ser19Gly	rs774206199	missense variant	-	NC_000001.11:g.225424021T>C	ExAC,gnomAD
LBR	Q14739	p.Ser19Asn	rs1408381788	missense variant	-	NC_000001.11:g.225424020C>T	gnomAD
LBR	Q14739	p.Ser20Leu	rs1190304682	missense variant	-	NC_000001.11:g.225424017G>A	gnomAD
LBR	Q14739	p.Leu21Phe	rs1355280287	missense variant	-	NC_000001.11:g.225424015G>A	gnomAD
LBR	Q14739	p.Tyr22Cys	rs768631027	missense variant	-	NC_000001.11:g.225424011T>C	ExAC,gnomAD
LBR	Q14739	p.Tyr23Cys	rs749442728	missense variant	-	NC_000001.11:g.225424008T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr23Phe	rs749442728	missense variant	-	NC_000001.11:g.225424008T>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr23Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225424008T>G	NCI-TCGA
LBR	Q14739	p.Glu24Lys	COSM3484206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225424006C>T	NCI-TCGA Cosmic
LBR	Q14739	p.Val25Leu	rs1464048602	missense variant	-	NC_000001.11:g.225424003C>G	gnomAD
LBR	Q14739	p.Glu26Gly	rs1268100510	missense variant	-	NC_000001.11:g.225423999T>C	gnomAD
LBR	Q14739	p.Glu26AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.225423999_225424000insAG	NCI-TCGA
LBR	Q14739	p.Ile27Val	rs1214241760	missense variant	-	NC_000001.11:g.225423997T>C	gnomAD
LBR	Q14739	p.Asp31Asn	rs149920625	missense variant	-	NC_000001.11:g.225423985C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser32Asn	rs1382928751	missense variant	-	NC_000001.11:g.225423981C>T	gnomAD
LBR	Q14739	p.Thr33Ala	RCV000403170	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225423979T>C	ClinVar
LBR	Q14739	p.Thr33Ala	rs200756121	missense variant	-	NC_000001.11:g.225423979T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser34Phe	rs747525564	missense variant	-	NC_000001.11:g.225423975G>A	ExAC,gnomAD
LBR	Q14739	p.Leu36Pro	rs1387958612	missense variant	-	NC_000001.11:g.225423969A>G	gnomAD
LBR	Q14739	p.Leu36Phe	rs778289657	missense variant	-	NC_000001.11:g.225423970G>A	ExAC,gnomAD
LBR	Q14739	p.Thr38Ala	rs1042815153	missense variant	-	NC_000001.11:g.225423964T>C	TOPMed,gnomAD
LBR	Q14739	p.Thr38Asn	rs555819295	missense variant	-	NC_000001.11:g.225423963G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr38Ile	rs555819295	missense variant	-	NC_000001.11:g.225423963G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr38Ser	rs1042815153	missense variant	-	NC_000001.11:g.225423964T>A	TOPMed,gnomAD
LBR	Q14739	p.Lys40Arg	rs755810631	missense variant	-	NC_000001.11:g.225423957T>C	ExAC,TOPMed
LBR	Q14739	p.Tyr41Cys	rs1320764205	missense variant	-	NC_000001.11:g.225423954T>C	gnomAD
LBR	Q14739	p.Lys42Arg	rs1249866637	missense variant	-	NC_000001.11:g.225423951T>C	TOPMed
LBR	Q14739	p.Gly44Arg	rs1481655481	missense variant	-	NC_000001.11:g.225423946C>G	TOPMed
LBR	Q14739	p.Glu46Ala	rs767302539	missense variant	-	NC_000001.11:g.225423939T>G	ExAC,gnomAD
LBR	Q14739	p.Glu48Lys	rs762108686	missense variant	-	NC_000001.11:g.225423934C>T	gnomAD
LBR	Q14739	p.Glu48Gln	rs762108686	missense variant	-	NC_000001.11:g.225423934C>G	gnomAD
LBR	Q14739	p.Glu48Ala	COSM904648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225423933T>G	NCI-TCGA Cosmic
LBR	Q14739	p.Leu49Val	rs1448407807	missense variant	-	NC_000001.11:g.225423931A>C	gnomAD
LBR	Q14739	p.Glu51Lys	rs1177590790	missense variant	-	NC_000001.11:g.225423925C>T	TOPMed
LBR	Q14739	p.Asn52Lys	rs920973479	missense variant	-	NC_000001.11:g.225423920A>T	TOPMed,gnomAD
LBR	Q14739	p.Asn52Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225423921T>C	NCI-TCGA
LBR	Q14739	p.Asn52Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225423920A>C	NCI-TCGA
LBR	Q14739	p.Ile54Val	rs761536767	missense variant	-	NC_000001.11:g.225423916T>C	ExAC,gnomAD
LBR	Q14739	p.Ile54Phe	rs761536767	missense variant	-	NC_000001.11:g.225423916T>A	ExAC,gnomAD
LBR	Q14739	p.Pro56Ser	rs1254466472	missense variant	-	NC_000001.11:g.225422277G>A	TOPMed
LBR	Q14739	p.Pro56Thr	rs1254466472	missense variant	-	NC_000001.11:g.225422277G>T	TOPMed
LBR	Q14739	p.Ser59Phe	COSM3864576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225422267G>A	NCI-TCGA Cosmic
LBR	Q14739	p.Phe60Leu	rs763775687	missense variant	-	NC_000001.11:g.225422265A>G	ExAC,gnomAD
LBR	Q14739	p.Arg63Lys	rs924146540	missense variant	-	NC_000001.11:g.225422255C>T	gnomAD
LBR	Q14739	p.Arg63LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.225422252_225422255TTCC>-	NCI-TCGA
LBR	Q14739	p.Gly65Cys	rs765365854	missense variant	-	NC_000001.11:g.225422250C>A	ExAC,gnomAD
LBR	Q14739	p.Gly65Ser	rs765365854	missense variant	-	NC_000001.11:g.225422250C>T	ExAC,gnomAD
LBR	Q14739	p.Gly65Asp	COSM6124905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225422249C>T	NCI-TCGA Cosmic
LBR	Q14739	p.Gly66Ser	rs776841930	missense variant	-	NC_000001.11:g.225422247C>T	ExAC,gnomAD
LBR	Q14739	p.Ser67Pro	rs1393957671	missense variant	-	NC_000001.11:g.225422244A>G	gnomAD
LBR	Q14739	p.Ser69Phe	RCV000280387	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225422237G>A	ClinVar
LBR	Q14739	p.Ser69Phe	rs369299493	missense variant	-	NC_000001.11:g.225422237G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser69Cys	rs369299493	missense variant	-	NC_000001.11:g.225422237G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser70Thr	rs1462087829	missense variant	-	NC_000001.11:g.225422234C>G	TOPMed,gnomAD
LBR	Q14739	p.Ser71Phe	rs927660579	missense variant	-	NC_000001.11:g.225422231G>A	TOPMed
LBR	Q14739	p.Pro72Leu	rs1367356844	missense variant	-	NC_000001.11:g.225422228G>A	TOPMed,gnomAD
LBR	Q14739	p.Ser73Phe	rs773644529	missense variant	-	NC_000001.11:g.225422225G>A	ExAC,gnomAD
LBR	Q14739	p.Ser73Ala	rs760953170	missense variant	-	NC_000001.11:g.225422226A>C	ExAC,gnomAD
LBR	Q14739	p.Arg74Thr	rs978293896	missense variant	-	NC_000001.11:g.225422222C>G	TOPMed
LBR	Q14739	p.Arg74Ter	COSM6124906	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.225422223T>A	NCI-TCGA Cosmic
LBR	Q14739	p.Arg75Cys	rs553554966	missense variant	-	NC_000001.11:g.225422220G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg75Gly	rs553554966	missense variant	-	NC_000001.11:g.225422220G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg75His	rs755984972	missense variant	-	NC_000001.11:g.225422219C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg76Ter	RCV000210455	nonsense	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	NC_000001.11:g.225422217G>A	ClinVar
LBR	Q14739	p.Arg76Gln	rs749991297	missense variant	-	NC_000001.11:g.225422216C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg76Ter	rs869312905	stop gained	-	NC_000001.11:g.225422217G>A	-
LBR	Q14739	p.Ser78Arg	rs539965123	missense variant	-	NC_000001.11:g.225422211T>G	1000Genomes
LBR	Q14739	p.Arg79Ter	rs1363715209	stop gained	-	NC_000001.11:g.225422208G>A	gnomAD
LBR	Q14739	p.Arg79Gln	rs150911670	missense variant	-	NC_000001.11:g.225422207C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser82Ter	rs1197749961	stop gained	-	NC_000001.11:g.225422198G>C	gnomAD
LBR	Q14739	p.Ser82Pro	rs917913308	missense variant	-	NC_000001.11:g.225422199A>G	TOPMed
LBR	Q14739	p.Arg83His	rs780648797	missense variant	-	NC_000001.11:g.225422195C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg83Ser	rs745448849	missense variant	-	NC_000001.11:g.225422196G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg83Gly	rs745448849	missense variant	-	NC_000001.11:g.225422196G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg83Cys	rs745448849	missense variant	-	NC_000001.11:g.225422196G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser84Phe	rs751124930	missense variant	-	NC_000001.11:g.225422192G>A	ExAC,gnomAD
LBR	Q14739	p.Ser84Cys	rs751124930	missense variant	-	NC_000001.11:g.225422192G>C	ExAC,gnomAD
LBR	Q14739	p.Arg85Gly	rs1293819920	missense variant	-	NC_000001.11:g.225422190G>C	gnomAD
LBR	Q14739	p.Arg85Pro	rs758063579	missense variant	-	NC_000001.11:g.225422189C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg85Gln	rs758063579	missense variant	-	NC_000001.11:g.225422189C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro87Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225422184G>A	NCI-TCGA
LBR	Q14739	p.Gly88Ser	rs754965227	missense variant	-	NC_000001.11:g.225422181C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gly88Arg	rs754965227	missense variant	-	NC_000001.11:g.225422181C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg89Gln	rs766513028	missense variant	-	NC_000001.11:g.225422177C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg89Ter	rs754015696	stop gained	-	NC_000001.11:g.225422178G>A	ExAC,gnomAD
LBR	Q14739	p.Pro90Gln	rs1323238325	missense variant	-	NC_000001.11:g.225422174G>T	gnomAD
LBR	Q14739	p.Pro90Ser	COSM904646	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225422175G>A	NCI-TCGA Cosmic
LBR	Q14739	p.Pro91Ser	rs201003932	missense variant	-	NC_000001.11:g.225422172G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro91His	rs773238630	missense variant	-	NC_000001.11:g.225422171G>T	ExAC,gnomAD
LBR	Q14739	p.Lys92Glu	rs1170157436	missense variant	-	NC_000001.11:g.225422169T>C	TOPMed
LBR	Q14739	p.Lys92Thr	rs1390400468	missense variant	-	NC_000001.11:g.225422168T>G	TOPMed
LBR	Q14739	p.Ala94Gly	COSM115904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225422162G>C	NCI-TCGA Cosmic
LBR	Q14739	p.Arg95Cys	rs11551873	missense variant	-	NC_000001.11:g.225422160G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg95His	rs371428900	missense variant	-	NC_000001.11:g.225422159C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg96Leu	rs769191817	missense variant	-	NC_000001.11:g.225422156C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg96Gln	rs769191817	missense variant	-	NC_000001.11:g.225422156C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg96Pro	rs769191817	missense variant	-	NC_000001.11:g.225422156C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser97Pro	rs776142084	missense variant	-	NC_000001.11:g.225422154A>G	ExAC,gnomAD
LBR	Q14739	p.Ser97Ala	COSM1473449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225422154A>C	NCI-TCGA Cosmic
LBR	Q14739	p.Ala98Ser	rs770390134	missense variant	-	NC_000001.11:g.225422151C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser99Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225422147G>A	NCI-TCGA
LBR	Q14739	p.Ala100Pro	rs1438793970	missense variant	-	NC_000001.11:g.225422145C>G	TOPMed
LBR	Q14739	p.His102Gln	rs199784853	missense variant	-	NC_000001.11:g.225422137G>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Asp105Asn	rs557489420	missense variant	-	NC_000001.11:g.225422130C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp105Glu	rs1308755479	missense variant	-	NC_000001.11:g.225422128G>T	gnomAD
LBR	Q14739	p.Ile106Val	rs200648839	missense variant	-	NC_000001.11:g.225422127T>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Ala109Thr	rs778823931	missense variant	-	NC_000001.11:g.225422118C>T	ExAC,gnomAD
LBR	Q14739	p.Ala109Val	rs568717962	missense variant	-	NC_000001.11:g.225422117G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala109Gly	rs568717962	missense variant	-	NC_000001.11:g.225422117G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala109Ser	COSM4937800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225422118C>A	NCI-TCGA Cosmic
LBR	Q14739	p.Arg110Thr	rs1215691620	missense variant	-	NC_000001.11:g.225422114C>G	gnomAD
LBR	Q14739	p.Arg111Lys	rs766568195	missense variant	-	NC_000001.11:g.225422111C>T	ExAC,gnomAD
LBR	Q14739	p.Arg111Ser	rs756086565	missense variant	-	NC_000001.11:g.225422110C>A	ExAC,gnomAD
LBR	Q14739	p.Glu112Asp	rs1344726084	missense variant	-	NC_000001.11:g.225422107T>G	gnomAD
LBR	Q14739	p.Glu114Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225422103C>T	NCI-TCGA
LBR	Q14739	p.Thr118Ile	rs138380180	missense variant	-	NC_000001.11:g.225422090G>A	ESP
LBR	Q14739	p.Pro119Leu	rs137852605	missense variant	-	NC_000001.11:g.225422087G>A	-
LBR	Q14739	p.Pro119Leu	rs137852605	missense variant	Pelger-Huet anomaly (PHA)	NC_000001.11:g.225422087G>A	UniProt,dbSNP
LBR	Q14739	p.Pro119Leu	VAR_017841	missense variant	Pelger-Huet anomaly (PHA)	NC_000001.11:g.225422087G>A	UniProt
LBR	Q14739	p.Ile121Val	rs1252909629	missense variant	-	NC_000001.11:g.225422082T>C	TOPMed
LBR	Q14739	p.Lys123Glu	rs1320847992	missense variant	-	NC_000001.11:g.225419798T>C	gnomAD
LBR	Q14739	p.Pro124Arg	rs201699817	missense variant	-	NC_000001.11:g.225419794G>C	TOPMed
LBR	Q14739	p.Pro124Ser	rs1383169780	missense variant	-	NC_000001.11:g.225419795G>A	gnomAD
LBR	Q14739	p.Pro124Gln	rs201699817	missense variant	-	NC_000001.11:g.225419794G>T	TOPMed
LBR	Q14739	p.Pro124Thr	rs1383169780	missense variant	-	NC_000001.11:g.225419795G>T	gnomAD
LBR	Q14739	p.Gly126Glu	rs1375201039	missense variant	-	NC_000001.11:g.225419788C>T	gnomAD
LBR	Q14739	p.Gly126Val	rs1375201039	missense variant	-	NC_000001.11:g.225419788C>A	gnomAD
LBR	Q14739	p.Ser128Asn	rs756072693	missense variant	-	NC_000001.11:g.225419782C>T	ExAC,gnomAD
LBR	Q14739	p.Tyr132Asn	rs572094033	missense variant	-	NC_000001.11:g.225419771A>T	1000Genomes
LBR	Q14739	p.Tyr132Cys	rs775733565	missense variant	-	NC_000001.11:g.225419770T>C	TOPMed
LBR	Q14739	p.Asn133Ile	rs553765740	missense variant	-	NC_000001.11:g.225419767T>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Glu135Asp	rs1485232908	missense variant	-	NC_000001.11:g.225419760C>G	gnomAD
LBR	Q14739	p.His138Tyr	rs763247153	missense variant	-	NC_000001.11:g.225419753G>A	ExAC,gnomAD
LBR	Q14739	p.His138Asp	rs763247153	missense variant	-	NC_000001.11:g.225419753G>C	ExAC,gnomAD
LBR	Q14739	p.Ile139Leu	rs765734421	missense variant	-	NC_000001.11:g.225419750T>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile139Thr	rs760061264	missense variant	-	NC_000001.11:g.225419749A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn142Ser	rs1456627121	missense variant	-	NC_000001.11:g.225419740T>C	TOPMed
LBR	Q14739	p.Ala144Pro	rs772650538	missense variant	-	NC_000001.11:g.225419735C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala144Thr	rs772650538	missense variant	-	NC_000001.11:g.225419735C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro145Ser	rs1355260895	missense variant	-	NC_000001.11:g.225419732G>A	gnomAD
LBR	Q14739	p.His146Pro	rs1399788307	missense variant	-	NC_000001.11:g.225419728T>G	TOPMed
LBR	Q14739	p.His146Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225419728T>C	NCI-TCGA
LBR	Q14739	p.Lys147Glu	rs1311372717	missense variant	-	NC_000001.11:g.225419726T>C	TOPMed,gnomAD
LBR	Q14739	p.Gln150Glu	rs771566608	missense variant	-	NC_000001.11:g.225419717G>C	ExAC,gnomAD
LBR	Q14739	p.Lys152Arg	rs1444198102	missense variant	-	NC_000001.11:g.225419448T>C	TOPMed
LBR	Q14739	p.Lys152Glu	rs1324751698	missense variant	-	NC_000001.11:g.225419449T>C	gnomAD
LBR	Q14739	p.Lys152Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225419447T>A	NCI-TCGA
LBR	Q14739	p.Ser154Asn	RCV000245894	missense variant	-	NC_000001.11:g.225419442C>T	ClinVar
LBR	Q14739	p.Ser154Asn	RCV000712172	missense variant	-	NC_000001.11:g.225419442C>T	ClinVar
LBR	Q14739	p.Ser154Gly	rs759988663	missense variant	-	NC_000001.11:g.225419443T>C	ExAC,TOPMed
LBR	Q14739	p.Ser154Thr	rs2230419	missense variant	-	NC_000001.11:g.225419442C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser154Asn	rs2230419	missense variant	-	NC_000001.11:g.225419442C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser154Asn	RCV000287243	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225419442C>T	ClinVar
LBR	Q14739	p.Leu155Val	rs766946228	missense variant	-	NC_000001.11:g.225419440A>C	ExAC,gnomAD
LBR	Q14739	p.Gln157Glu	rs536366620	missense variant	-	NC_000001.11:g.225419434G>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Gln157Arg	rs1298858382	missense variant	-	NC_000001.11:g.225419433T>C	TOPMed
LBR	Q14739	p.Gln157Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225419434G>T	NCI-TCGA
LBR	Q14739	p.Ser160Ile	rs773992626	missense variant	-	NC_000001.11:g.225419424C>A	ExAC,gnomAD
LBR	Q14739	p.Ile162Thr	rs768462183	missense variant	-	NC_000001.11:g.225419418A>G	ExAC,gnomAD
LBR	Q14739	p.Ala163Pro	rs144270114	missense variant	-	NC_000001.11:g.225419416C>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala163GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.225419391_225419415CTTGGACGAAGGCTATACTGTGTTG>-	NCI-TCGA
LBR	Q14739	p.Thr164Lys	rs1219132368	missense variant	-	NC_000001.11:g.225419412G>T	TOPMed
LBR	Q14739	p.Thr164Ala	rs769591237	missense variant	-	NC_000001.11:g.225419413T>C	ExAC,gnomAD
LBR	Q14739	p.Gln165Arg	rs1216043543	missense variant	-	NC_000001.11:g.225419409T>C	TOPMed,gnomAD
LBR	Q14739	p.Ser167Gly	rs565648951	missense variant	-	NC_000001.11:g.225419404T>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Ser167Arg	rs565648951	missense variant	-	NC_000001.11:g.225419404T>G	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Ser167Cys	rs565648951	missense variant	-	NC_000001.11:g.225419404T>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Leu168Phe	rs1457364634	missense variant	-	NC_000001.11:g.225419401G>A	TOPMed
LBR	Q14739	p.Arg169Cys	rs2230420	missense variant	-	NC_000001.11:g.225419398G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg169His	rs375181558	missense variant	-	NC_000001.11:g.225419397C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro170Ser	rs747160424	missense variant	-	NC_000001.11:g.225419395G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro170Arg	rs777823620	missense variant	-	NC_000001.11:g.225419394G>C	ExAC,gnomAD
LBR	Q14739	p.Arg172Ile	rs923198022	missense variant	-	NC_000001.11:g.225419388C>A	TOPMed,gnomAD
LBR	Q14739	p.Arg172Lys	rs923198022	missense variant	-	NC_000001.11:g.225419388C>T	TOPMed,gnomAD
LBR	Q14739	p.Val175Ile	rs1368849417	missense variant	-	NC_000001.11:g.225419380C>T	gnomAD
LBR	Q14739	p.Lys176Ile	rs1458312127	missense variant	-	NC_000001.11:g.225419376T>A	gnomAD
LBR	Q14739	p.Leu177Val	rs1040197581	missense variant	-	NC_000001.11:g.225419374A>C	TOPMed
LBR	Q14739	p.Glu179Ter	COSM275829	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.225419368C>A	NCI-TCGA Cosmic
LBR	Q14739	p.Ile180Thr	rs1344394948	missense variant	-	NC_000001.11:g.225419364A>G	TOPMed,gnomAD
LBR	Q14739	p.Ile180Arg	rs1344394948	missense variant	-	NC_000001.11:g.225419364A>C	TOPMed,gnomAD
LBR	Q14739	p.Asp181Tyr	COSM1961401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225419362C>A	NCI-TCGA Cosmic
LBR	Q14739	p.Ser182Ala	rs1156597590	missense variant	-	NC_000001.11:g.225419359A>C	gnomAD
LBR	Q14739	p.Ser182Phe	rs370431555	missense variant	-	NC_000001.11:g.225419358G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser182Cys	rs370431555	missense variant	-	NC_000001.11:g.225419358G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Glu184Ala	rs1408315845	missense variant	-	NC_000001.11:g.225419352T>G	gnomAD
LBR	Q14739	p.Glu185Asp	rs1192593707	missense variant	-	NC_000001.11:g.225419348T>G	TOPMed,gnomAD
LBR	Q14739	p.Lys186Thr	COSM1339250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225419346T>G	NCI-TCGA Cosmic
LBR	Q14739	p.Val188Ile	rs199796274	missense variant	-	NC_000001.11:g.225419341C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala189Thr	rs1196056286	missense variant	-	NC_000001.11:g.225419338C>T	TOPMed,gnomAD
LBR	Q14739	p.Lys190Arg	rs754133766	missense variant	-	NC_000001.11:g.225419334T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu192Arg	rs149760565	missense variant	-	NC_000001.11:g.225419328A>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val194Met	rs139988587	missense variant	-	NC_000001.11:g.225419323C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr200Asn	rs200288588	missense variant	-	NC_000001.11:g.225419304G>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg203Trp	rs775167348	missense variant	-	NC_000001.11:g.225419296G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg203Trp	RCV000379289	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225419296G>A	ClinVar
LBR	Q14739	p.Arg203Gln	rs142747191	missense variant	-	NC_000001.11:g.225419295C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala204Thr	rs776256289	missense variant	-	NC_000001.11:g.225419293C>T	ExAC,gnomAD
LBR	Q14739	p.Ala204Ser	rs776256289	missense variant	-	NC_000001.11:g.225419293C>A	ExAC,gnomAD
LBR	Q14739	p.Glu208Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225419280T>C	NCI-TCGA
LBR	Q14739	p.Gly210Val	rs565288775	missense variant	-	NC_000001.11:g.225419274C>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Gly211Glu	rs531768440	missense variant	-	NC_000001.11:g.225419271C>T	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Gly211Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.225419272C>A	NCI-TCGA
LBR	Q14739	p.Val212Gly	rs772068458	missense variant	-	NC_000001.11:g.225419268A>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val212Ala	rs772068458	missense variant	-	NC_000001.11:g.225419268A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val212Ile	rs773288901	missense variant	-	NC_000001.11:g.225419269C>T	ExAC,gnomAD
LBR	Q14739	p.Val215Leu	rs776545053	missense variant	-	NC_000001.11:g.225418178C>G	ExAC,gnomAD
LBR	Q14739	p.Leu217Ile	rs766101498	missense variant	-	NC_000001.11:g.225418172G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile218Ter	RCV000656652	frameshift	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (PHASK)	NC_000001.11:g.225418168_225418170delinsTTTCTCATCA	ClinVar
LBR	Q14739	p.Met219Thr	rs2230421	missense variant	-	NC_000001.11:g.225418165A>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Met219Val	rs760606703	missense variant	-	NC_000001.11:g.225418166T>C	ExAC,gnomAD
LBR	Q14739	p.Pro223Ser	rs572319132	missense variant	-	NC_000001.11:g.225418154G>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Val224Leu	rs768982188	missense variant	-	NC_000001.11:g.225418151C>A	ExAC,gnomAD
LBR	Q14739	p.Phe225Ser	rs1342326976	missense variant	-	NC_000001.11:g.225418147A>G	TOPMed
LBR	Q14739	p.Leu226Ile	rs1317016745	missense variant	-	NC_000001.11:g.225418145G>T	gnomAD
LBR	Q14739	p.Phe227Leu	rs1453350254	missense variant	-	NC_000001.11:g.225418142A>G	gnomAD
LBR	Q14739	p.Met232Ile	rs1164798368	missense variant	-	NC_000001.11:g.225418125C>A	TOPMed,gnomAD
LBR	Q14739	p.Met232Ile	rs1164798368	missense variant	-	NC_000001.11:g.225418125C>T	TOPMed,gnomAD
LBR	Q14739	p.Cys233Tyr	rs749414790	missense variant	-	NC_000001.11:g.225418123C>T	ExAC,gnomAD
LBR	Q14739	p.Cys233Arg	rs1474443369	missense variant	-	NC_000001.11:g.225418124A>G	TOPMed,gnomAD
LBR	Q14739	p.Cys233HisLeuIleLysThr	NCI-TCGA novel	insertion	-	NC_000001.11:g.225418121_225418122insTGTTTTAATAAGATG	NCI-TCGA
LBR	Q14739	p.Lys234Arg	rs770244436	missense variant	-	NC_000001.11:g.225418120T>C	ExAC,gnomAD
LBR	Q14739	p.Lys234Glu	rs780571341	missense variant	-	NC_000001.11:g.225418121T>C	ExAC,gnomAD
LBR	Q14739	p.Gln235Ter	rs1248666020	stop gained	-	NC_000001.11:g.225418118G>A	gnomAD
LBR	Q14739	p.Gln235Arg	rs746399322	missense variant	-	NC_000001.11:g.225418117T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp237Gly	rs373221926	missense variant	-	NC_000001.11:g.225418111T>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp237Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225418110A>C	NCI-TCGA
LBR	Q14739	p.Pro238His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225418108G>T	NCI-TCGA
LBR	Q14739	p.Leu240Val	rs1272518792	missense variant	-	NC_000001.11:g.225418103G>C	gnomAD
LBR	Q14739	p.Asn242Asp	rs886046053	missense variant	-	NC_000001.11:g.225418097T>C	-
LBR	Q14739	p.Asn242Asp	RCV000322395	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225418097T>C	ClinVar
LBR	Q14739	p.Asn242Ile	COSM904644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225418096T>A	NCI-TCGA Cosmic
LBR	Q14739	p.Phe243Ile	rs757805606	missense variant	-	NC_000001.11:g.225418094A>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro244Leu	rs1237899420	missense variant	-	NC_000001.11:g.225418090G>A	gnomAD
LBR	Q14739	p.Pro244Ser	rs752316294	missense variant	-	NC_000001.11:g.225418091G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro245Ser	rs778270986	missense variant	-	NC_000001.11:g.225418088G>A	ExAC,gnomAD
LBR	Q14739	p.Pro246His	rs1217973085	missense variant	-	NC_000001.11:g.225418084G>T	TOPMed
LBR	Q14739	p.Pro248Leu	rs140008883	missense variant	-	NC_000001.11:g.225418078G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala249Asp	RCV000264843	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225418075G>T	ClinVar
LBR	Q14739	p.Ala249Asp	rs200781118	missense variant	-	NC_000001.11:g.225418075G>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Glu252Asp	rs943153158	missense variant	-	NC_000001.11:g.225418065C>A	gnomAD
LBR	Q14739	p.Glu252Asp	COSM3804082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225418065C>G	NCI-TCGA Cosmic
LBR	Q14739	p.Trp254Arg	rs1393344778	missense variant	-	NC_000001.11:g.225418061A>G	TOPMed,gnomAD
LBR	Q14739	p.Trp254Leu	rs766188080	missense variant	-	NC_000001.11:g.225418060C>A	ExAC
LBR	Q14739	p.Trp254Gly	rs1393344778	missense variant	-	NC_000001.11:g.225418061A>C	TOPMed,gnomAD
LBR	Q14739	p.Arg257Ile	rs752867763	missense variant	-	NC_000001.11:g.225418051C>A	ExAC,gnomAD
LBR	Q14739	p.Arg257Thr	rs752867763	missense variant	-	NC_000001.11:g.225418051C>G	ExAC,gnomAD
LBR	Q14739	p.Val258Gly	rs750192278	missense variant	-	NC_000001.11:g.225418048A>C	ExAC,gnomAD
LBR	Q14739	p.Phe259Leu	COSM1339249	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225418046A>G	NCI-TCGA Cosmic
LBR	Q14739	p.Tyr262Cys	rs989833855	missense variant	-	NC_000001.11:g.225418036T>C	TOPMed
LBR	Q14739	p.Leu263Pro	rs774504905	missense variant	-	NC_000001.11:g.225418033A>G	ExAC,gnomAD
LBR	Q14739	p.Leu263Phe	rs761645957	missense variant	-	NC_000001.11:g.225418034G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile268Val	rs1191678063	missense variant	-	NC_000001.11:g.225418019T>C	gnomAD
LBR	Q14739	p.Val270Ile	rs571188946	missense variant	-	NC_000001.11:g.225418013C>T	1000Genomes
LBR	Q14739	p.Phe272Val	rs775806204	missense variant	-	NC_000001.11:g.225418007A>C	ExAC,gnomAD
LBR	Q14739	p.Phe272Leu	rs770117907	missense variant	-	NC_000001.11:g.225418005G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu275Val	rs771523780	missense variant	-	NC_000001.11:g.225417998G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile277Thr	rs754401622	missense variant	-	NC_000001.11:g.225417991A>G	ExAC,gnomAD
LBR	Q14739	p.Ile277Phe	rs369086850	missense variant	-	NC_000001.11:g.225417992T>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile277Met	rs1324743572	missense variant	-	NC_000001.11:g.225417990A>C	gnomAD
LBR	Q14739	p.Ile277Val	rs369086850	missense variant	-	NC_000001.11:g.225417992T>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val280Gly	rs1325056362	missense variant	-	NC_000001.11:g.225415331A>C	gnomAD
LBR	Q14739	p.Glu282Gly	rs1375140616	missense variant	-	NC_000001.11:g.225415325T>C	TOPMed,gnomAD
LBR	Q14739	p.Gly283Arg	rs937215428	missense variant	-	NC_000001.11:g.225415323C>T	gnomAD
LBR	Q14739	p.Thr284Met	RCV000757430	missense variant	-	NC_000001.11:g.225415319G>A	ClinVar
LBR	Q14739	p.Thr284Lys	rs371750924	missense variant	-	NC_000001.11:g.225415319G>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr284Met	rs371750924	missense variant	-	NC_000001.11:g.225415319G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile287Thr	rs201093644	missense variant	-	NC_000001.11:g.225415310A>G	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Asp288Asn	rs1425669232	missense variant	-	NC_000001.11:g.225415308C>T	gnomAD
LBR	Q14739	p.Asp288His	rs1425669232	missense variant	-	NC_000001.11:g.225415308C>G	gnomAD
LBR	Q14739	p.Gly289Glu	rs148541545	missense variant	-	NC_000001.11:g.225415304C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gly289Glu	RCV000202858	missense variant	-	NC_000001.11:g.225415304C>T	ClinVar
LBR	Q14739	p.Gly289Glu	RCV000766850	missense variant	-	NC_000001.11:g.225415304C>T	ClinVar
LBR	Q14739	p.Arg291Ser	rs1168968932	missense variant	-	NC_000001.11:g.225415297T>G	TOPMed
LBR	Q14739	p.Leu292Phe	rs755779401	missense variant	-	NC_000001.11:g.225415296G>A	ExAC,gnomAD
LBR	Q14739	p.Lys293Arg	rs1255016152	missense variant	-	NC_000001.11:g.225415292T>C	gnomAD
LBR	Q14739	p.Tyr294Cys	rs1064797142	missense variant	-	NC_000001.11:g.225415289T>C	-
LBR	Q14739	p.Tyr294Cys	RCV000488130	missense variant	-	NC_000001.11:g.225415289T>C	ClinVar
LBR	Q14739	p.Phe299Leu	rs1163102510	missense variant	-	NC_000001.11:g.225412643A>G	gnomAD
LBR	Q14739	p.Tyr300Cys	rs2230422	missense variant	-	NC_000001.11:g.225412639T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr300Cys	RCV000362903	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225412639T>C	ClinVar
LBR	Q14739	p.Ala301Val	rs756298358	missense variant	-	NC_000001.11:g.225412636G>A	ExAC,gnomAD
LBR	Q14739	p.Ile303Asn	rs1165682529	missense variant	-	NC_000001.11:g.225412630A>T	gnomAD
LBR	Q14739	p.Ile303SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.225412631T>-	NCI-TCGA
LBR	Q14739	p.Ala307Ser	rs762215626	missense variant	-	NC_000001.11:g.225412619C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala307Val	rs1259631860	missense variant	-	NC_000001.11:g.225412618G>A	TOPMed
LBR	Q14739	p.Ile309Val	rs1458202605	missense variant	-	NC_000001.11:g.225412613T>C	gnomAD
LBR	Q14739	p.Gly310Arg	rs773059198	missense variant	-	NC_000001.11:g.225412610C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr311Pro	rs2275601	missense variant	-	NC_000001.11:g.225412607T>G	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr311Ala	rs2275601	missense variant	-	NC_000001.11:g.225412607T>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu313Val	rs1265688339	missense variant	-	NC_000001.11:g.225412601G>C	gnomAD
LBR	Q14739	p.Phe314Leu	rs532717763	missense variant	-	NC_000001.11:g.225412598A>G	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Gly316Asp	rs772870100	missense variant	-	NC_000001.11:g.225412591C>T	ExAC,gnomAD
LBR	Q14739	p.Gly316Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225412592C>A	NCI-TCGA
LBR	Q14739	p.Val317Ala	rs778842130	missense variant	-	NC_000001.11:g.225412588A>G	ExAC,gnomAD
LBR	Q14739	p.Val317Leu	rs532068854	missense variant	-	NC_000001.11:g.225412589C>G	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val317Ile	rs532068854	missense variant	-	NC_000001.11:g.225412589C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Phe319Ser	rs780032261	missense variant	-	NC_000001.11:g.225412582A>G	ExAC,gnomAD
LBR	Q14739	p.His320Arg	RCV000276302	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225412579T>C	ClinVar
LBR	Q14739	p.His320Gln	rs1408746181	missense variant	-	NC_000001.11:g.225412578A>C	gnomAD
LBR	Q14739	p.His320Arg	rs201654506	missense variant	-	NC_000001.11:g.225412579T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.His320Tyr	COSM679385	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225412580G>A	NCI-TCGA Cosmic
LBR	Q14739	p.Val322Met	rs145104817	missense variant	-	NC_000001.11:g.225412574C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr323His	rs757467143	missense variant	-	NC_000001.11:g.225412571A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr323Ser	rs372399119	missense variant	-	NC_000001.11:g.225412570T>G	ESP
LBR	Q14739	p.Leu327Val	COSM4817289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225412559G>C	NCI-TCGA Cosmic
LBR	Q14739	p.Leu331Val	rs201609720	missense variant	-	NC_000001.11:g.225412547G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu331Phe	rs201609720	missense variant	-	NC_000001.11:g.225412547G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala332Gly	rs141647564	missense variant	-	NC_000001.11:g.225412543G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala332Val	rs141647564	missense variant	-	NC_000001.11:g.225412543G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val335Leu	rs765826557	missense variant	-	NC_000001.11:g.225412535C>G	ExAC,gnomAD
LBR	Q14739	p.Val335Gly	rs950583872	missense variant	-	NC_000001.11:g.225412534A>C	TOPMed,gnomAD
LBR	Q14739	p.Val339Phe	rs1486157539	missense variant	-	NC_000001.11:g.225412523C>A	TOPMed
LBR	Q14739	p.Val342Met	rs772814364	missense variant	-	NC_000001.11:g.225412514C>T	ExAC,gnomAD
LBR	Q14739	p.Leu344Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225412508G>A	NCI-TCGA
LBR	Q14739	p.Met346Thr	rs916315587	missense variant	-	NC_000001.11:g.225412501A>G	gnomAD
LBR	Q14739	p.Arg347Cys	rs141837466	missense variant	-	NC_000001.11:g.225412499G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg347His	rs761503513	missense variant	-	NC_000001.11:g.225412498C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu349Ser	rs774295347	missense variant	-	NC_000001.11:g.225412492A>G	ExAC,gnomAD
LBR	Q14739	p.Leu349Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225412491C>G	NCI-TCGA
LBR	Q14739	p.Ala351Thr	rs1454335895	missense variant	-	NC_000001.11:g.225412487C>T	TOPMed,gnomAD
LBR	Q14739	p.Ala351Val	rs560305402	missense variant	-	NC_000001.11:g.225412486G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro352Leu	rs372090173	missense variant	-	NC_000001.11:g.225412483G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro352Ser	rs1438230432	missense variant	-	NC_000001.11:g.225412484G>A	TOPMed
LBR	Q14739	p.Arg353Gln	rs368253687	missense variant	-	NC_000001.11:g.225412480C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg353Trp	rs138731836	missense variant	-	NC_000001.11:g.225412481G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn354Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225412477T>C	NCI-TCGA
LBR	Q14739	p.Ser357Leu	rs149077819	missense variant	-	NC_000001.11:g.225412468G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro358Leu	rs778139850	missense variant	-	NC_000001.11:g.225412465G>A	ExAC,gnomAD
LBR	Q14739	p.Pro358Ser	rs145328578	missense variant	-	NC_000001.11:g.225412466G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser361Phe	rs61731741	missense variant	-	NC_000001.11:g.225412456G>A	gnomAD
LBR	Q14739	p.Ser361Cys	rs61731741	missense variant	-	NC_000001.11:g.225412456G>C	gnomAD
LBR	Q14739	p.Gly362Arg	COSM904643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225412454C>T	NCI-TCGA Cosmic
LBR	Q14739	p.Ala364Thr	rs192884088	missense variant	-	NC_000001.11:g.225411435C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val365Ile	rs1385535432	missense variant	-	NC_000001.11:g.225411432C>T	gnomAD
LBR	Q14739	p.Tyr366Cys	rs760213489	missense variant	-	NC_000001.11:g.225411428T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp367Glu	rs1211967159	missense variant	-	NC_000001.11:g.225411424A>C	TOPMed
LBR	Q14739	p.Asp367Gly	rs1316644897	missense variant	-	NC_000001.11:g.225411425T>C	TOPMed
LBR	Q14739	p.Ile370Thr	rs1189063395	missense variant	-	NC_000001.11:g.225411416A>G	gnomAD
LBR	Q14739	p.Arg372Cys	rs200180113	missense variant	-	NC_000001.11:g.225411411G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg372Cys	RCV000010141	missense variant	Reynolds syndrome	NC_000001.11:g.225411411G>A	ClinVar
LBR	Q14739	p.Arg372His	rs747250396	missense variant	-	NC_000001.11:g.225411410C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn375Ser	rs977194928	missense variant	-	NC_000001.11:g.225411401T>C	TOPMed
LBR	Q14739	p.Pro376Arg	rs778014876	missense variant	-	NC_000001.11:g.225411398G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro376Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225411398G>A	NCI-TCGA
LBR	Q14739	p.Arg377Gln	rs750036742	missense variant	-	NC_000001.11:g.225411395C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg377Gln	RCV000756302	missense variant	-	NC_000001.11:g.225411395C>T	ClinVar
LBR	Q14739	p.Gly379Cys	rs748609557	missense variant	-	NC_000001.11:g.225411390C>A	ExAC,gnomAD
LBR	Q14739	p.Thr380Ala	rs779092617	missense variant	-	NC_000001.11:g.225411387T>C	ExAC,gnomAD
LBR	Q14739	p.Phe381Leu	COSM3984772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225411382A>T	NCI-TCGA Cosmic
LBR	Q14739	p.Tyr385Cys	rs199944519	missense variant	-	NC_000001.11:g.225411371T>C	1000Genomes,gnomAD
LBR	Q14739	p.Phe386Val	rs780875833	missense variant	-	NC_000001.11:g.225411369A>C	ExAC,gnomAD
LBR	Q14739	p.Cys387Gly	rs1444402654	missense variant	-	NC_000001.11:g.225411366A>C	TOPMed,gnomAD
LBR	Q14739	p.Cys387Tyr	rs751082807	missense variant	-	NC_000001.11:g.225411365C>T	ExAC,gnomAD
LBR	Q14739	p.Cys387Arg	rs1444402654	missense variant	-	NC_000001.11:g.225411366A>G	TOPMed,gnomAD
LBR	Q14739	p.Leu389Ser	rs763875580	missense variant	-	NC_000001.11:g.225411359A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg390His	rs752549085	missense variant	-	NC_000001.11:g.225411356C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg390Cys	rs762500645	missense variant	-	NC_000001.11:g.225411357G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro391Leu	rs1164592698	missense variant	-	NC_000001.11:g.225411353G>A	gnomAD
LBR	Q14739	p.Gly392Arg	RCV000515924	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000001.11:g.225411351C>T	ClinVar
LBR	Q14739	p.Gly392Arg	rs1236962991	missense variant	-	NC_000001.11:g.225411351C>T	gnomAD
LBR	Q14739	p.Gly395Glu	rs759500897	missense variant	-	NC_000001.11:g.225411341C>T	ExAC,gnomAD
LBR	Q14739	p.Val397Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225410416C>A	NCI-TCGA
LBR	Q14739	p.Val398Phe	rs1261585802	missense variant	-	NC_000001.11:g.225410413C>A	TOPMed
LBR	Q14739	p.Met403Val	COSM6124907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225410398T>C	NCI-TCGA Cosmic
LBR	Q14739	p.Ala406Thr	rs760590170	missense variant	-	NC_000001.11:g.225410389C>T	ExAC,gnomAD
LBR	Q14739	p.Met408Lys	rs1307658193	missense variant	-	NC_000001.11:g.225410382A>T	gnomAD
LBR	Q14739	p.Gln411His	rs773349855	missense variant	-	NC_000001.11:g.225410372C>G	ExAC,gnomAD
LBR	Q14739	p.Gln411Arg	rs1218508469	missense variant	-	NC_000001.11:g.225410373T>C	gnomAD
LBR	Q14739	p.Asp412Tyr	COSM679387	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225410371C>A	NCI-TCGA Cosmic
LBR	Q14739	p.Arg413His	rs534522882	missense variant	-	NC_000001.11:g.225410367C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg413Cys	rs144672633	missense variant	-	NC_000001.11:g.225410368G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala414Thr	rs765875442	missense variant	-	NC_000001.11:g.225410365C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser417Pro	rs749737302	missense variant	-	NC_000001.11:g.225410356A>G	ExAC,gnomAD
LBR	Q14739	p.Ser417Cys	COSM3984771	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225410355G>C	NCI-TCGA Cosmic
LBR	Q14739	p.Met420Val	rs1039551489	missense variant	-	NC_000001.11:g.225410347T>C	TOPMed
LBR	Q14739	p.Met420Ile	COSM282377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225410345C>A	NCI-TCGA Cosmic
LBR	Q14739	p.Ile421Val	rs1433169701	missense variant	-	NC_000001.11:g.225410344T>C	gnomAD
LBR	Q14739	p.Asn424Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225410335T>C	NCI-TCGA
LBR	Q14739	p.Ser425Asn	COSM3400364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225410331C>T	NCI-TCGA Cosmic
LBR	Q14739	p.Phe426Leu	rs139059920	missense variant	-	NC_000001.11:g.225410327G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr430Cys	rs138769892	missense variant	-	NC_000001.11:g.225410316T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr430His	rs373006705	missense variant	-	NC_000001.11:g.225410317A>G	ESP
LBR	Q14739	p.Val432Met	rs1354117075	missense variant	-	NC_000001.11:g.225410311C>T	TOPMed
LBR	Q14739	p.Val432Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225410311C>A	NCI-TCGA
LBR	Q14739	p.Asp433Asn	rs777371608	missense variant	-	NC_000001.11:g.225410308C>T	ExAC,gnomAD
LBR	Q14739	p.Ala434Thr	rs141750416	missense variant	-	NC_000001.11:g.225410305C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala434Ser	rs141750416	missense variant	-	NC_000001.11:g.225410305C>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala434Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225410304G>T	NCI-TCGA
LBR	Q14739	p.Leu435Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225410302G>A	NCI-TCGA
LBR	Q14739	p.Asn437Ser	rs1301532168	missense variant	-	NC_000001.11:g.225410295T>C	TOPMed,gnomAD
LBR	Q14739	p.Glu438Ala	rs1209489811	missense variant	-	NC_000001.11:g.225410292T>G	TOPMed,gnomAD
LBR	Q14739	p.Ala440Thr	rs747674311	missense variant	-	NC_000001.11:g.225406829C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala440Pro	rs747674311	missense variant	-	NC_000001.11:g.225406829C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala440Val	rs778378796	missense variant	-	NC_000001.11:g.225406828G>A	ExAC,gnomAD
LBR	Q14739	p.Thr443Lys	rs531565954	missense variant	-	NC_000001.11:g.225406819G>T	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Thr443Met	RCV000335811	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225406819G>A	ClinVar
LBR	Q14739	p.Thr443Met	rs531565954	missense variant	-	NC_000001.11:g.225406819G>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Thr443Arg	rs531565954	missense variant	-	NC_000001.11:g.225406819G>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Thr444Ser	rs186333444	missense variant	-	NC_000001.11:g.225406816G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr444Asn	rs186333444	missense variant	-	NC_000001.11:g.225406816G>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Met445Val	rs148033978	missense variant	-	NC_000001.11:g.225406814T>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile447Met	rs374446877	missense variant	-	NC_000001.11:g.225406806G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile447Asn	rs1453936270	missense variant	-	NC_000001.11:g.225406807A>T	gnomAD
LBR	Q14739	p.His449Tyr	rs1415649191	missense variant	-	NC_000001.11:g.225406802G>A	TOPMed
LBR	Q14739	p.Asp450Asn	rs775804258	missense variant	-	NC_000001.11:g.225406799C>T	ExAC,gnomAD
LBR	Q14739	p.Phe452Ser	rs762651731	missense variant	-	NC_000001.11:g.225406792A>G	ExAC,gnomAD
LBR	Q14739	p.Met455Leu	rs369788407	missense variant	-	NC_000001.11:g.225406784T>G	ESP,ExAC,gnomAD
LBR	Q14739	p.Leu456Val	RCV000763831	missense variant	Pelger-Huët anomaly (PHA)	NC_000001.11:g.225406781G>C	ClinVar
LBR	Q14739	p.Leu456Val	rs377110126	missense variant	-	NC_000001.11:g.225406781G>C	ESP,ExAC,gnomAD
LBR	Q14739	p.Leu456Pro	rs1445718271	missense variant	-	NC_000001.11:g.225406780A>G	TOPMed
LBR	Q14739	p.Leu456Val	RCV000489302	missense variant	-	NC_000001.11:g.225406781G>C	ClinVar
LBR	Q14739	p.Val462Leu	rs372303989	missense variant	-	NC_000001.11:g.225406763C>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val464Ile	rs954946766	missense variant	-	NC_000001.11:g.225406757C>T	gnomAD
LBR	Q14739	p.Val464Phe	rs954946766	missense variant	-	NC_000001.11:g.225406757C>A	gnomAD
LBR	Q14739	p.Pro465Ala	rs1227606098	missense variant	-	NC_000001.11:g.225406754G>C	TOPMed
LBR	Q14739	p.Pro465Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225406753G>A	NCI-TCGA
LBR	Q14739	p.Phe466Val	rs1049341078	missense variant	-	NC_000001.11:g.225406751A>C	TOPMed,gnomAD
LBR	Q14739	p.Ile467Phe	rs201212744	missense variant	-	NC_000001.11:g.225406748T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr468Ter	RCV000087267	frameshift	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225406747del	ClinVar
LBR	Q14739	p.Phe470Leu	COSM4028652	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225406737G>C	NCI-TCGA Cosmic
LBR	Q14739	p.Ala472Ser	rs1242076313	missense variant	-	NC_000001.11:g.225406733C>A	gnomAD
LBR	Q14739	p.Ala472Thr	COSM3484205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225406733C>T	NCI-TCGA Cosmic
LBR	Q14739	p.Leu475Ile	RCV000506162	missense variant	-	NC_000001.11:g.225406724A>T	ClinVar
LBR	Q14739	p.Leu475Ser	rs779726211	missense variant	-	NC_000001.11:g.225406723A>G	ExAC,gnomAD
LBR	Q14739	p.Leu475Ile	rs1553395780	missense variant	-	NC_000001.11:g.225406724A>T	-
LBR	Q14739	p.Ser477Thr	rs371531855	missense variant	-	NC_000001.11:g.225406717C>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser477Gly	rs376070025	missense variant	-	NC_000001.11:g.225406718T>C	ESP,ExAC,gnomAD
LBR	Q14739	p.Pro479Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225406711G>A	NCI-TCGA
LBR	Q14739	p.Asn480Tyr	rs1376867105	missense variant	-	NC_000001.11:g.225406709T>A	gnomAD
LBR	Q14739	p.Ser483Ala	rs780983309	missense variant	-	NC_000001.11:g.225406700A>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Trp484Ser	rs751503823	missense variant	-	NC_000001.11:g.225406696C>G	ExAC,gnomAD
LBR	Q14739	p.Trp484Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.225406695C>T	NCI-TCGA
LBR	Q14739	p.Pro485Thr	rs1440124856	missense variant	-	NC_000001.11:g.225406694G>T	gnomAD
LBR	Q14739	p.Met486Val	rs778020291	missense variant	-	NC_000001.11:g.225406691T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala487Ser	rs1053523660	missense variant	-	NC_000001.11:g.225406688C>A	TOPMed
LBR	Q14739	p.Ser488Pro	rs1367673808	missense variant	-	NC_000001.11:g.225406685A>G	gnomAD
LBR	Q14739	p.Leu489Val	rs900536861	missense variant	-	NC_000001.11:g.225406682G>C	gnomAD
LBR	Q14739	p.Ile490Ser	rs934709705	missense variant	-	NC_000001.11:g.225406678A>C	TOPMed,gnomAD
LBR	Q14739	p.Ile491Val	rs886046052	missense variant	-	NC_000001.11:g.225406676T>C	TOPMed
LBR	Q14739	p.Ile491Val	RCV000297273	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225406676T>C	ClinVar
LBR	Q14739	p.Leu495Phe	rs541202772	missense variant	-	NC_000001.11:g.225406664G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu495Ile	rs541202772	missense variant	-	NC_000001.11:g.225406664G>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu495His	rs746777423	missense variant	-	NC_000001.11:g.225404706A>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Cys496Trp	rs1192433983	missense variant	-	NC_000001.11:g.225404702A>C	TOPMed,gnomAD
LBR	Q14739	p.Tyr498Asn	rs1487027204	missense variant	-	NC_000001.11:g.225404698A>T	gnomAD
LBR	Q14739	p.Val499Ala	COSM4028651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225404694A>G	NCI-TCGA Cosmic
LBR	Q14739	p.Phe501Leu	rs549177877	missense variant	-	NC_000001.11:g.225404687G>T	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Arg502Gly	RCV000493673	missense variant	-	NC_000001.11:g.225404686G>C	ClinVar
LBR	Q14739	p.Arg502Gly	rs1131691304	missense variant	-	NC_000001.11:g.225404686G>C	gnomAD
LBR	Q14739	p.Arg502Gln	rs758405025	missense variant	-	NC_000001.11:g.225404685C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala504Val	rs752877544	missense variant	-	NC_000001.11:g.225404679G>A	ExAC,gnomAD
LBR	Q14739	p.Ala504Thr	rs987262840	missense variant	-	NC_000001.11:g.225404680C>T	TOPMed,gnomAD
LBR	Q14739	p.Ala504Gly	rs752877544	missense variant	-	NC_000001.11:g.225404679G>C	ExAC,gnomAD
LBR	Q14739	p.Asn505Asp	rs967498079	missense variant	-	NC_000001.11:g.225404677T>C	TOPMed,gnomAD
LBR	Q14739	p.Ala510Thr	rs78828796	missense variant	-	NC_000001.11:g.225404662C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg512Trp	rs373561199	missense variant	-	NC_000001.11:g.225404656G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg512Gln	RCV000483832	missense variant	-	NC_000001.11:g.225404655C>T	ClinVar
LBR	Q14739	p.Arg512Gln	rs754049402	missense variant	-	NC_000001.11:g.225404655C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn514Ser	rs1320447431	missense variant	-	NC_000001.11:g.225404649T>C	gnomAD
LBR	Q14739	p.Pro515Ser	COSM3484204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225404647G>A	NCI-TCGA Cosmic
LBR	Q14739	p.Ser516Asn	rs1170693139	missense variant	-	NC_000001.11:g.225404643C>T	gnomAD
LBR	Q14739	p.Pro518Ser	rs761070731	missense variant	-	NC_000001.11:g.225404638G>A	ExAC,gnomAD
LBR	Q14739	p.Lys519Glu	COSM4028650	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225404635T>C	NCI-TCGA Cosmic
LBR	Q14739	p.Leu520Val	rs201172537	missense variant	-	NC_000001.11:g.225404632G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala521Pro	rs372250618	missense variant	-	NC_000001.11:g.225404629C>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala521Ser	rs372250618	missense variant	-	NC_000001.11:g.225404629C>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.His522Tyr	rs753611856	missense variant	-	NC_000001.11:g.225404626G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.His522Leu	rs372078910	missense variant	-	NC_000001.11:g.225404526T>A	ESP,TOPMed
LBR	Q14739	p.His522Asp	rs753611856	missense variant	-	NC_000001.11:g.225404626G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Lys524Asn	rs760341951	missense variant	-	NC_000001.11:g.225404519T>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr525ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.225404518T>-	NCI-TCGA
LBR	Q14739	p.Thr528Ile	rs1306305066	missense variant	-	NC_000001.11:g.225404508G>A	gnomAD
LBR	Q14739	p.Ser529Leu	rs773141972	missense variant	-	NC_000001.11:g.225404505G>A	ExAC,gnomAD
LBR	Q14739	p.Ser529Ter	rs773141972	stop gained	-	NC_000001.11:g.225404505G>T	ExAC,gnomAD
LBR	Q14739	p.Thr530Met	rs748116336	missense variant	-	NC_000001.11:g.225404502G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr530Ala	rs771949470	missense variant	-	NC_000001.11:g.225404503T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.AsnLeuLeu533AsnTerLys	rs387906416	stop gained	Pelger-huet anomaly (pha)	NC_000001.11:g.225404486_225404492delinsCTTCTAG	-
LBR	Q14739	p.Leu534Ile	rs1352864124	missense variant	-	NC_000001.11:g.225404491G>T	TOPMed
LBR	Q14739	p.Leu534Ter	RCV000010137	nonsense	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404486_225404492delinsCTTCTAG	ClinVar
LBR	Q14739	p.Leu534Ter	RCV000087262	nonsense	Pelger-Huët anomaly (PHA)	NC_000001.11:g.225404486_225404492delinsCTTCTAG	ClinVar
LBR	Q14739	p.Leu535Val	rs774389031	missense variant	-	NC_000001.11:g.225404488G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser537Ala	RCV000224710	missense variant	-	NC_000001.11:g.225404482A>C	ClinVar
LBR	Q14739	p.Ser537Ala	rs80299691	missense variant	-	NC_000001.11:g.225404482A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gly541Arg	rs749446927	missense variant	-	NC_000001.11:g.225404470C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val543Phe	rs1156536082	missense variant	-	NC_000001.11:g.225404464C>A	TOPMed,gnomAD
LBR	Q14739	p.Arg544His	rs1444693890	missense variant	-	NC_000001.11:g.225404460C>T	TOPMed,gnomAD
LBR	Q14739	p.Arg544Cys	COSM4844755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225404461G>A	NCI-TCGA Cosmic
LBR	Q14739	p.Pro546Ser	rs779944455	missense variant	-	NC_000001.11:g.225404455G>A	ExAC
LBR	Q14739	p.Asn547Asp	rs587777171	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404452T>C	UniProt,dbSNP
LBR	Q14739	p.Asn547Asp	VAR_081220	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404452T>C	UniProt
LBR	Q14739	p.Asn547Asp	rs587777171	missense variant	-	NC_000001.11:g.225404452T>C	gnomAD
LBR	Q14739	p.Asn547Ser	rs374343844	missense variant	-	NC_000001.11:g.225404451T>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn547Ser	rs374343844	missense variant	Pelger-Huet anomaly with mild skeletal anomalies (PHASK)	NC_000001.11:g.225404451T>C	UniProt,dbSNP
LBR	Q14739	p.Asn547Ser	VAR_081006	missense variant	Pelger-Huet anomaly with mild skeletal anomalies (PHASK)	NC_000001.11:g.225404451T>C	UniProt
LBR	Q14739	p.Asn547Ser	RCV000210471	missense variant	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	NC_000001.11:g.225404451T>C	ClinVar
LBR	Q14739	p.Asn547Asp	RCV000087263	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404452T>C	ClinVar
LBR	Q14739	p.Asn547Ile	rs374343844	missense variant	-	NC_000001.11:g.225404451T>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr548Cys	rs781561574	missense variant	-	NC_000001.11:g.225404448T>C	ExAC,gnomAD
LBR	Q14739	p.Leu552Phe	rs1176137959	missense variant	-	NC_000001.11:g.225404437G>A	TOPMed
LBR	Q14739	p.Met554Thr	rs751837075	missense variant	-	NC_000001.11:g.225404430A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu556Phe	rs764727862	missense variant	-	NC_000001.11:g.225404423C>A	ExAC,gnomAD
LBR	Q14739	p.Ala557Val	rs202123513	missense variant	-	NC_000001.11:g.225404421G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala557Val	RCV000284385	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404421G>A	ClinVar
LBR	Q14739	p.Ser559Phe	rs1374598658	missense variant	-	NC_000001.11:g.225404415G>A	TOPMed
LBR	Q14739	p.Pro561Ala	rs192296368	missense variant	-	NC_000001.11:g.225404410G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Cys562Phe	rs1337761262	missense variant	-	NC_000001.11:g.225404406C>A	TOPMed
LBR	Q14739	p.Phe564Leu	rs779730656	missense variant	-	NC_000001.11:g.225403459A>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.His566Tyr	rs755731775	missense variant	-	NC_000001.11:g.225403455G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile567Leu	rs767339628	missense variant	-	NC_000001.11:g.225403452T>G	ExAC,gnomAD
LBR	Q14739	p.Pro569Arg	rs137852606	missense variant	-	NC_000001.11:g.225403445G>C	-
LBR	Q14739	p.Pro569Arg	rs137852606	missense variant	Pelger-Huet anomaly (PHA)	NC_000001.11:g.225403445G>C	UniProt,dbSNP
LBR	Q14739	p.Pro569Arg	VAR_017842	missense variant	Pelger-Huet anomaly (PHA)	NC_000001.11:g.225403445G>C	UniProt
LBR	Q14739	p.Tyr570His	rs146204188	missense variant	-	NC_000001.11:g.225403443A>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Phe571Leu	rs897450329	missense variant	-	NC_000001.11:g.225403438G>C	TOPMed,gnomAD
LBR	Q14739	p.Ile573Met	rs1409601053	missense variant	-	NC_000001.11:g.225403432T>C	TOPMed
LBR	Q14739	p.Ile574Met	rs1427564477	missense variant	-	NC_000001.11:g.225403429A>C	gnomAD
LBR	Q14739	p.Tyr575Cys	rs1179013007	missense variant	-	NC_000001.11:g.225403427T>C	TOPMed,gnomAD
LBR	Q14739	p.Thr577Ile	rs143181005	missense variant	-	NC_000001.11:g.225403421G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Met578Ile	rs1358335705	missense variant	-	NC_000001.11:g.225403417C>A	TOPMed
LBR	Q14739	p.Leu579Phe	rs1262705462	missense variant	-	NC_000001.11:g.225403414C>A	gnomAD
LBR	Q14739	p.Leu580His	rs1317084127	missense variant	-	NC_000001.11:g.225403412A>T	gnomAD
LBR	Q14739	p.Val581Ile	rs1486861811	missense variant	-	NC_000001.11:g.225403410C>T	TOPMed,gnomAD
LBR	Q14739	p.Val581Phe	rs1486861811	missense variant	-	NC_000001.11:g.225403410C>A	TOPMed,gnomAD
LBR	Q14739	p.His582Arg	COSM4028649	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225403406T>C	NCI-TCGA Cosmic
LBR	Q14739	p.Arg583Gln	rs587777172	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225403403C>T	UniProt,dbSNP
LBR	Q14739	p.Arg583Gln	VAR_081221	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225403403C>T	UniProt
LBR	Q14739	p.Arg583Gln	rs587777172	missense variant	-	NC_000001.11:g.225403403C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg583Leu	rs587777172	missense variant	-	NC_000001.11:g.225403403C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg583Ter	rs1057516045	stop gained	-	NC_000001.11:g.225403404G>A	gnomAD
LBR	Q14739	p.Arg583Gln	RCV000087264	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225403403C>T	ClinVar
LBR	Q14739	p.Arg583Leu	RCV000480212	missense variant	-	NC_000001.11:g.225403403C>A	ClinVar
LBR	Q14739	p.Arg583Ter	RCV000626821	nonsense	-	NC_000001.11:g.225403404G>A	ClinVar
LBR	Q14739	p.Arg586His	RCV000656653	missense variant	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (PHASK)	NC_000001.11:g.225403394C>T	ClinVar
LBR	Q14739	p.Arg586Cys	rs199675363	missense variant	-	NC_000001.11:g.225403395G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg586His	rs573510559	missense variant	Pelger-Huet anomaly with mild skeletal anomalies (PHASK)	NC_000001.11:g.225403394C>T	UniProt,dbSNP
LBR	Q14739	p.Arg586His	VAR_081007	missense variant	Pelger-Huet anomaly with mild skeletal anomalies (PHASK)	NC_000001.11:g.225403394C>T	UniProt
LBR	Q14739	p.Arg586His	rs573510559	missense variant	-	NC_000001.11:g.225403394C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp587Glu	rs149534786	missense variant	-	NC_000001.11:g.225403390G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Glu588Lys	rs138067182	missense variant	-	NC_000001.11:g.225403389C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.His590Arg	rs1215843389	missense variant	-	NC_000001.11:g.225403382T>C	TOPMed,gnomAD
LBR	Q14739	p.Cys591Tyr	rs772275229	missense variant	-	NC_000001.11:g.225403379C>T	ExAC,gnomAD
LBR	Q14739	p.Tyr595Ter	rs758568680	stop gained	-	NC_000001.11:g.225403366G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr595His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225403368A>G	NCI-TCGA
LBR	Q14739	p.Gly596Val	rs779601553	missense variant	-	NC_000001.11:g.225403364C>A	ExAC
LBR	Q14739	p.Val597Met	rs371589487	missense variant	-	NC_000001.11:g.225403362C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val597Leu	rs371589487	missense variant	-	NC_000001.11:g.225403362C>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val597Leu	rs371589487	missense variant	-	NC_000001.11:g.225403362C>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala598Val	rs751127239	missense variant	-	NC_000001.11:g.225403358G>A	ExAC,gnomAD
LBR	Q14739	p.Trp599Arg	rs1439795101	missense variant	-	NC_000001.11:g.225403356A>T	TOPMed
LBR	Q14739	p.Lys601Thr	rs141243190	missense variant	-	NC_000001.11:g.225403349T>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr602His	rs762700017	missense variant	-	NC_000001.11:g.225403347A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gln604Lys	rs1455371337	missense variant	-	NC_000001.11:g.225403341G>T	TOPMed
LBR	Q14739	p.Arg605His	rs377008758	missense variant	-	NC_000001.11:g.225403337C>T	ESP,ExAC,gnomAD
LBR	Q14739	p.Arg605Cys	rs918778528	missense variant	-	NC_000001.11:g.225403338G>A	TOPMed,gnomAD
LBR	Q14739	p.Pro607Ala	rs765213528	missense variant	-	NC_000001.11:g.225403332G>C	ExAC,gnomAD
LBR	Q14739	p.Pro607His	rs779151785	missense variant	-	NC_000001.11:g.225403331G>T	ExAC,gnomAD
LBR	Q14739	p.Pro607Ser	rs765213528	missense variant	-	NC_000001.11:g.225403332G>A	ExAC,gnomAD
LBR	Q14739	p.Tyr608Ser	rs1332502900	missense variant	-	NC_000001.11:g.225403328T>G	TOPMed
LBR	Q14739	p.Arg609Ser	rs776693237	missense variant	-	NC_000001.11:g.225403326G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg609His	rs766329359	missense variant	-	NC_000001.11:g.225403325C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg609Cys	rs776693237	missense variant	-	NC_000001.11:g.225403326G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile610Val	rs886046051	missense variant	-	NC_000001.11:g.225403323T>C	-
LBR	Q14739	p.Ile610Val	RCV000376521	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225403323T>C	ClinVar
LBR	Q14739	p.Phe611Val	rs760973933	missense variant	-	NC_000001.11:g.225403320A>C	ExAC,gnomAD
LBR	Q14739	p.Pro612Thr	rs773353718	missense variant	-	NC_000001.11:g.225403317G>T	ExAC,gnomAD
LBR	Q14739	p.Pro612Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.225403317G>A	NCI-TCGA
LBR	Q14739	p.Tyr613Cys	rs911065623	missense variant	-	NC_000001.11:g.225403313T>C	TOPMed
LBR	Q14739	p.Tyr613Phe	rs911065623	missense variant	-	NC_000001.11:g.225403313T>A	TOPMed
LBR	Q14739	p.Ile614Val	COSM1470256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.225403311T>C	NCI-TCGA Cosmic
LBR	Q14739	p.Pro2Gln	rs1250803200	missense variant	-	NC_000001.11:g.225424071G>T	gnomAD
LBR	Q14739	p.Pro2Leu	rs1250803200	missense variant	-	NC_000001.11:g.225424071G>A	gnomAD
LBR	Q14739	p.Ser3Asn	rs746311894	missense variant	-	NC_000001.11:g.225424068C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser3Gly	rs1481485031	missense variant	-	NC_000001.11:g.225424069T>C	gnomAD
LBR	Q14739	p.Arg4Ser	rs1274464371	missense variant	-	NC_000001.11:g.225424064C>A	gnomAD
LBR	Q14739	p.Arg4Gly	rs781666925	missense variant	-	NC_000001.11:g.225424066T>C	ExAC,gnomAD
LBR	Q14739	p.Asp8Tyr	rs764873714	missense variant	-	NC_000001.11:g.225424054C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp8Asn	rs764873714	missense variant	-	NC_000001.11:g.225424054C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val11Ter	RCV000087265	frameshift	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225424041_225424044del	ClinVar
LBR	Q14739	p.Val11Ter	RCV000087266	frameshift	Pelger-Huët anomaly (PHA)	NC_000001.11:g.225424041_225424044del	ClinVar
LBR	Q14739	p.Val12Ile	rs766117275	missense variant	-	NC_000001.11:g.225424042C>T	ExAC,gnomAD
LBR	Q14739	p.Gly14Ser	rs773037367	missense variant	-	NC_000001.11:g.225424036C>T	ExAC,gnomAD
LBR	Q14739	p.Arg15Gln	rs767247360	missense variant	-	NC_000001.11:g.225424032C>T	ExAC,gnomAD
LBR	Q14739	p.Arg15Ter	rs192681330	stop gained	-	NC_000001.11:g.225424033G>A	1000Genomes,TOPMed,gnomAD
LBR	Q14739	p.Trp16Ter	rs1411225492	stop gained	-	NC_000001.11:g.225424028C>T	gnomAD
LBR	Q14739	p.Pro17Ser	rs188150385	missense variant	-	NC_000001.11:g.225424027G>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Ser19Gly	rs774206199	missense variant	-	NC_000001.11:g.225424021T>C	ExAC,gnomAD
LBR	Q14739	p.Ser19Asn	rs1408381788	missense variant	-	NC_000001.11:g.225424020C>T	gnomAD
LBR	Q14739	p.Ser20Leu	rs1190304682	missense variant	-	NC_000001.11:g.225424017G>A	gnomAD
LBR	Q14739	p.Leu21Phe	rs1355280287	missense variant	-	NC_000001.11:g.225424015G>A	gnomAD
LBR	Q14739	p.Tyr22Cys	rs768631027	missense variant	-	NC_000001.11:g.225424011T>C	ExAC,gnomAD
LBR	Q14739	p.Tyr23Cys	rs749442728	missense variant	-	NC_000001.11:g.225424008T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr23Phe	rs749442728	missense variant	-	NC_000001.11:g.225424008T>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val25Leu	rs1464048602	missense variant	-	NC_000001.11:g.225424003C>G	gnomAD
LBR	Q14739	p.Glu26Gly	rs1268100510	missense variant	-	NC_000001.11:g.225423999T>C	gnomAD
LBR	Q14739	p.Ile27Val	rs1214241760	missense variant	-	NC_000001.11:g.225423997T>C	gnomAD
LBR	Q14739	p.Asp31Asn	rs149920625	missense variant	-	NC_000001.11:g.225423985C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser32Asn	rs1382928751	missense variant	-	NC_000001.11:g.225423981C>T	gnomAD
LBR	Q14739	p.Thr33Ala	RCV000403170	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225423979T>C	ClinVar
LBR	Q14739	p.Thr33Ala	rs200756121	missense variant	-	NC_000001.11:g.225423979T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser34Phe	rs747525564	missense variant	-	NC_000001.11:g.225423975G>A	ExAC,gnomAD
LBR	Q14739	p.Leu36Pro	rs1387958612	missense variant	-	NC_000001.11:g.225423969A>G	gnomAD
LBR	Q14739	p.Leu36Phe	rs778289657	missense variant	-	NC_000001.11:g.225423970G>A	ExAC,gnomAD
LBR	Q14739	p.Thr38Asn	rs555819295	missense variant	-	NC_000001.11:g.225423963G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr38Ala	rs1042815153	missense variant	-	NC_000001.11:g.225423964T>C	TOPMed,gnomAD
LBR	Q14739	p.Thr38Ile	rs555819295	missense variant	-	NC_000001.11:g.225423963G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr38Ser	rs1042815153	missense variant	-	NC_000001.11:g.225423964T>A	TOPMed,gnomAD
LBR	Q14739	p.Lys40Arg	rs755810631	missense variant	-	NC_000001.11:g.225423957T>C	ExAC,TOPMed
LBR	Q14739	p.Tyr41Cys	rs1320764205	missense variant	-	NC_000001.11:g.225423954T>C	gnomAD
LBR	Q14739	p.Lys42Arg	rs1249866637	missense variant	-	NC_000001.11:g.225423951T>C	TOPMed
LBR	Q14739	p.Gly44Arg	rs1481655481	missense variant	-	NC_000001.11:g.225423946C>G	TOPMed
LBR	Q14739	p.Glu46Ala	rs767302539	missense variant	-	NC_000001.11:g.225423939T>G	ExAC,gnomAD
LBR	Q14739	p.Glu48Lys	rs762108686	missense variant	-	NC_000001.11:g.225423934C>T	gnomAD
LBR	Q14739	p.Glu48Gln	rs762108686	missense variant	-	NC_000001.11:g.225423934C>G	gnomAD
LBR	Q14739	p.Leu49Val	rs1448407807	missense variant	-	NC_000001.11:g.225423931A>C	gnomAD
LBR	Q14739	p.Glu51Lys	rs1177590790	missense variant	-	NC_000001.11:g.225423925C>T	TOPMed
LBR	Q14739	p.Asn52Lys	rs920973479	missense variant	-	NC_000001.11:g.225423920A>T	TOPMed,gnomAD
LBR	Q14739	p.Ile54Val	rs761536767	missense variant	-	NC_000001.11:g.225423916T>C	ExAC,gnomAD
LBR	Q14739	p.Ile54Phe	rs761536767	missense variant	-	NC_000001.11:g.225423916T>A	ExAC,gnomAD
LBR	Q14739	p.Pro56Ser	rs1254466472	missense variant	-	NC_000001.11:g.225422277G>A	TOPMed
LBR	Q14739	p.Pro56Thr	rs1254466472	missense variant	-	NC_000001.11:g.225422277G>T	TOPMed
LBR	Q14739	p.Phe60Leu	rs763775687	missense variant	-	NC_000001.11:g.225422265A>G	ExAC,gnomAD
LBR	Q14739	p.Arg63Lys	rs924146540	missense variant	-	NC_000001.11:g.225422255C>T	gnomAD
LBR	Q14739	p.Gly65Cys	rs765365854	missense variant	-	NC_000001.11:g.225422250C>A	ExAC,gnomAD
LBR	Q14739	p.Gly65Ser	rs765365854	missense variant	-	NC_000001.11:g.225422250C>T	ExAC,gnomAD
LBR	Q14739	p.Gly66Ser	rs776841930	missense variant	-	NC_000001.11:g.225422247C>T	ExAC,gnomAD
LBR	Q14739	p.Ser67Pro	rs1393957671	missense variant	-	NC_000001.11:g.225422244A>G	gnomAD
LBR	Q14739	p.Ser69Phe	RCV000280387	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225422237G>A	ClinVar
LBR	Q14739	p.Ser69Phe	rs369299493	missense variant	-	NC_000001.11:g.225422237G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser69Cys	rs369299493	missense variant	-	NC_000001.11:g.225422237G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser70Thr	rs1462087829	missense variant	-	NC_000001.11:g.225422234C>G	TOPMed,gnomAD
LBR	Q14739	p.Ser71Phe	rs927660579	missense variant	-	NC_000001.11:g.225422231G>A	TOPMed
LBR	Q14739	p.Pro72Leu	rs1367356844	missense variant	-	NC_000001.11:g.225422228G>A	TOPMed,gnomAD
LBR	Q14739	p.Ser73Ala	rs760953170	missense variant	-	NC_000001.11:g.225422226A>C	ExAC,gnomAD
LBR	Q14739	p.Ser73Phe	rs773644529	missense variant	-	NC_000001.11:g.225422225G>A	ExAC,gnomAD
LBR	Q14739	p.Arg74Thr	rs978293896	missense variant	-	NC_000001.11:g.225422222C>G	TOPMed
LBR	Q14739	p.Arg75Cys	rs553554966	missense variant	-	NC_000001.11:g.225422220G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg75Gly	rs553554966	missense variant	-	NC_000001.11:g.225422220G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg75His	rs755984972	missense variant	-	NC_000001.11:g.225422219C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg76Ter	RCV000210455	nonsense	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	NC_000001.11:g.225422217G>A	ClinVar
LBR	Q14739	p.Arg76Gln	rs749991297	missense variant	-	NC_000001.11:g.225422216C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg76Ter	rs869312905	stop gained	-	NC_000001.11:g.225422217G>A	-
LBR	Q14739	p.Ser78Arg	rs539965123	missense variant	-	NC_000001.11:g.225422211T>G	1000Genomes
LBR	Q14739	p.Arg79Ter	rs1363715209	stop gained	-	NC_000001.11:g.225422208G>A	gnomAD
LBR	Q14739	p.Arg79Gln	rs150911670	missense variant	-	NC_000001.11:g.225422207C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser82Ter	rs1197749961	stop gained	-	NC_000001.11:g.225422198G>C	gnomAD
LBR	Q14739	p.Ser82Pro	rs917913308	missense variant	-	NC_000001.11:g.225422199A>G	TOPMed
LBR	Q14739	p.Arg83Ser	rs745448849	missense variant	-	NC_000001.11:g.225422196G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg83His	rs780648797	missense variant	-	NC_000001.11:g.225422195C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg83Cys	rs745448849	missense variant	-	NC_000001.11:g.225422196G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg83Gly	rs745448849	missense variant	-	NC_000001.11:g.225422196G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser84Cys	rs751124930	missense variant	-	NC_000001.11:g.225422192G>C	ExAC,gnomAD
LBR	Q14739	p.Ser84Phe	rs751124930	missense variant	-	NC_000001.11:g.225422192G>A	ExAC,gnomAD
LBR	Q14739	p.Arg85Gly	rs1293819920	missense variant	-	NC_000001.11:g.225422190G>C	gnomAD
LBR	Q14739	p.Arg85Pro	rs758063579	missense variant	-	NC_000001.11:g.225422189C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg85Gln	rs758063579	missense variant	-	NC_000001.11:g.225422189C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gly88Ser	rs754965227	missense variant	-	NC_000001.11:g.225422181C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gly88Arg	rs754965227	missense variant	-	NC_000001.11:g.225422181C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg89Gln	rs766513028	missense variant	-	NC_000001.11:g.225422177C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg89Ter	rs754015696	stop gained	-	NC_000001.11:g.225422178G>A	ExAC,gnomAD
LBR	Q14739	p.Pro90Gln	rs1323238325	missense variant	-	NC_000001.11:g.225422174G>T	gnomAD
LBR	Q14739	p.Pro91His	rs773238630	missense variant	-	NC_000001.11:g.225422171G>T	ExAC,gnomAD
LBR	Q14739	p.Pro91Ser	rs201003932	missense variant	-	NC_000001.11:g.225422172G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Lys92Glu	rs1170157436	missense variant	-	NC_000001.11:g.225422169T>C	TOPMed
LBR	Q14739	p.Lys92Thr	rs1390400468	missense variant	-	NC_000001.11:g.225422168T>G	TOPMed
LBR	Q14739	p.Arg95Cys	rs11551873	missense variant	-	NC_000001.11:g.225422160G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg95His	rs371428900	missense variant	-	NC_000001.11:g.225422159C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg96Gln	rs769191817	missense variant	-	NC_000001.11:g.225422156C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg96Leu	rs769191817	missense variant	-	NC_000001.11:g.225422156C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg96Pro	rs769191817	missense variant	-	NC_000001.11:g.225422156C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser97Pro	rs776142084	missense variant	-	NC_000001.11:g.225422154A>G	ExAC,gnomAD
LBR	Q14739	p.Ala98Ser	rs770390134	missense variant	-	NC_000001.11:g.225422151C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala100Pro	rs1438793970	missense variant	-	NC_000001.11:g.225422145C>G	TOPMed
LBR	Q14739	p.His102Gln	rs199784853	missense variant	-	NC_000001.11:g.225422137G>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Asp105Asn	rs557489420	missense variant	-	NC_000001.11:g.225422130C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp105Glu	rs1308755479	missense variant	-	NC_000001.11:g.225422128G>T	gnomAD
LBR	Q14739	p.Ile106Val	rs200648839	missense variant	-	NC_000001.11:g.225422127T>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Ala109Thr	rs778823931	missense variant	-	NC_000001.11:g.225422118C>T	ExAC,gnomAD
LBR	Q14739	p.Ala109Val	rs568717962	missense variant	-	NC_000001.11:g.225422117G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala109Gly	rs568717962	missense variant	-	NC_000001.11:g.225422117G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg110Thr	rs1215691620	missense variant	-	NC_000001.11:g.225422114C>G	gnomAD
LBR	Q14739	p.Arg111Ser	rs756086565	missense variant	-	NC_000001.11:g.225422110C>A	ExAC,gnomAD
LBR	Q14739	p.Arg111Lys	rs766568195	missense variant	-	NC_000001.11:g.225422111C>T	ExAC,gnomAD
LBR	Q14739	p.Glu112Asp	rs1344726084	missense variant	-	NC_000001.11:g.225422107T>G	gnomAD
LBR	Q14739	p.Thr118Ile	rs138380180	missense variant	-	NC_000001.11:g.225422090G>A	ESP
LBR	Q14739	p.Pro119Leu	rs137852605	missense variant	-	NC_000001.11:g.225422087G>A	-
LBR	Q14739	p.Pro119Leu	rs137852605	missense variant	Pelger-Huet anomaly (PHA)	NC_000001.11:g.225422087G>A	UniProt,dbSNP
LBR	Q14739	p.Pro119Leu	VAR_017841	missense variant	Pelger-Huet anomaly (PHA)	NC_000001.11:g.225422087G>A	UniProt
LBR	Q14739	p.Ile121Val	rs1252909629	missense variant	-	NC_000001.11:g.225422082T>C	TOPMed
LBR	Q14739	p.Lys123Glu	rs1320847992	missense variant	-	NC_000001.11:g.225419798T>C	gnomAD
LBR	Q14739	p.Pro124Arg	rs201699817	missense variant	-	NC_000001.11:g.225419794G>C	TOPMed
LBR	Q14739	p.Pro124Ser	rs1383169780	missense variant	-	NC_000001.11:g.225419795G>A	gnomAD
LBR	Q14739	p.Pro124Gln	rs201699817	missense variant	-	NC_000001.11:g.225419794G>T	TOPMed
LBR	Q14739	p.Pro124Thr	rs1383169780	missense variant	-	NC_000001.11:g.225419795G>T	gnomAD
LBR	Q14739	p.Gly126Glu	rs1375201039	missense variant	-	NC_000001.11:g.225419788C>T	gnomAD
LBR	Q14739	p.Gly126Val	rs1375201039	missense variant	-	NC_000001.11:g.225419788C>A	gnomAD
LBR	Q14739	p.Ser128Asn	rs756072693	missense variant	-	NC_000001.11:g.225419782C>T	ExAC,gnomAD
LBR	Q14739	p.Tyr132Asn	rs572094033	missense variant	-	NC_000001.11:g.225419771A>T	1000Genomes
LBR	Q14739	p.Tyr132Cys	rs775733565	missense variant	-	NC_000001.11:g.225419770T>C	TOPMed
LBR	Q14739	p.Asn133Ile	rs553765740	missense variant	-	NC_000001.11:g.225419767T>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Glu135Asp	rs1485232908	missense variant	-	NC_000001.11:g.225419760C>G	gnomAD
LBR	Q14739	p.His138Tyr	rs763247153	missense variant	-	NC_000001.11:g.225419753G>A	ExAC,gnomAD
LBR	Q14739	p.His138Asp	rs763247153	missense variant	-	NC_000001.11:g.225419753G>C	ExAC,gnomAD
LBR	Q14739	p.Ile139Leu	rs765734421	missense variant	-	NC_000001.11:g.225419750T>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile139Thr	rs760061264	missense variant	-	NC_000001.11:g.225419749A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn142Ser	rs1456627121	missense variant	-	NC_000001.11:g.225419740T>C	TOPMed
LBR	Q14739	p.Ala144Thr	rs772650538	missense variant	-	NC_000001.11:g.225419735C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala144Pro	rs772650538	missense variant	-	NC_000001.11:g.225419735C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro145Ser	rs1355260895	missense variant	-	NC_000001.11:g.225419732G>A	gnomAD
LBR	Q14739	p.His146Pro	rs1399788307	missense variant	-	NC_000001.11:g.225419728T>G	TOPMed
LBR	Q14739	p.Lys147Glu	rs1311372717	missense variant	-	NC_000001.11:g.225419726T>C	TOPMed,gnomAD
LBR	Q14739	p.Gln150Glu	rs771566608	missense variant	-	NC_000001.11:g.225419717G>C	ExAC,gnomAD
LBR	Q14739	p.Lys152Arg	rs1444198102	missense variant	-	NC_000001.11:g.225419448T>C	TOPMed
LBR	Q14739	p.Lys152Glu	rs1324751698	missense variant	-	NC_000001.11:g.225419449T>C	gnomAD
LBR	Q14739	p.Ser154Asn	RCV000287243	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225419442C>T	ClinVar
LBR	Q14739	p.Ser154Asn	RCV000712172	missense variant	-	NC_000001.11:g.225419442C>T	ClinVar
LBR	Q14739	p.Ser154Asn	RCV000245894	missense variant	-	NC_000001.11:g.225419442C>T	ClinVar
LBR	Q14739	p.Ser154Gly	rs759988663	missense variant	-	NC_000001.11:g.225419443T>C	ExAC,TOPMed
LBR	Q14739	p.Ser154Thr	rs2230419	missense variant	-	NC_000001.11:g.225419442C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser154Asn	rs2230419	missense variant	-	NC_000001.11:g.225419442C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu155Val	rs766946228	missense variant	-	NC_000001.11:g.225419440A>C	ExAC,gnomAD
LBR	Q14739	p.Gln157Glu	rs536366620	missense variant	-	NC_000001.11:g.225419434G>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Gln157Arg	rs1298858382	missense variant	-	NC_000001.11:g.225419433T>C	TOPMed
LBR	Q14739	p.Ser160Ile	rs773992626	missense variant	-	NC_000001.11:g.225419424C>A	ExAC,gnomAD
LBR	Q14739	p.Ile162Thr	rs768462183	missense variant	-	NC_000001.11:g.225419418A>G	ExAC,gnomAD
LBR	Q14739	p.Ala163Pro	rs144270114	missense variant	-	NC_000001.11:g.225419416C>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr164Lys	rs1219132368	missense variant	-	NC_000001.11:g.225419412G>T	TOPMed
LBR	Q14739	p.Thr164Ala	rs769591237	missense variant	-	NC_000001.11:g.225419413T>C	ExAC,gnomAD
LBR	Q14739	p.Gln165Arg	rs1216043543	missense variant	-	NC_000001.11:g.225419409T>C	TOPMed,gnomAD
LBR	Q14739	p.Ser167Gly	rs565648951	missense variant	-	NC_000001.11:g.225419404T>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Ser167Arg	rs565648951	missense variant	-	NC_000001.11:g.225419404T>G	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Ser167Cys	rs565648951	missense variant	-	NC_000001.11:g.225419404T>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Leu168Phe	rs1457364634	missense variant	-	NC_000001.11:g.225419401G>A	TOPMed
LBR	Q14739	p.Arg169Cys	rs2230420	missense variant	-	NC_000001.11:g.225419398G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg169His	rs375181558	missense variant	-	NC_000001.11:g.225419397C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro170Ser	rs747160424	missense variant	-	NC_000001.11:g.225419395G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro170Arg	rs777823620	missense variant	-	NC_000001.11:g.225419394G>C	ExAC,gnomAD
LBR	Q14739	p.Arg172Ile	rs923198022	missense variant	-	NC_000001.11:g.225419388C>A	TOPMed,gnomAD
LBR	Q14739	p.Arg172Lys	rs923198022	missense variant	-	NC_000001.11:g.225419388C>T	TOPMed,gnomAD
LBR	Q14739	p.Val175Ile	rs1368849417	missense variant	-	NC_000001.11:g.225419380C>T	gnomAD
LBR	Q14739	p.Lys176Ile	rs1458312127	missense variant	-	NC_000001.11:g.225419376T>A	gnomAD
LBR	Q14739	p.Leu177Val	rs1040197581	missense variant	-	NC_000001.11:g.225419374A>C	TOPMed
LBR	Q14739	p.Ile180Thr	rs1344394948	missense variant	-	NC_000001.11:g.225419364A>G	TOPMed,gnomAD
LBR	Q14739	p.Ile180Arg	rs1344394948	missense variant	-	NC_000001.11:g.225419364A>C	TOPMed,gnomAD
LBR	Q14739	p.Ser182Ala	rs1156597590	missense variant	-	NC_000001.11:g.225419359A>C	gnomAD
LBR	Q14739	p.Ser182Phe	rs370431555	missense variant	-	NC_000001.11:g.225419358G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser182Cys	rs370431555	missense variant	-	NC_000001.11:g.225419358G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Glu184Ala	rs1408315845	missense variant	-	NC_000001.11:g.225419352T>G	gnomAD
LBR	Q14739	p.Glu185Asp	rs1192593707	missense variant	-	NC_000001.11:g.225419348T>G	TOPMed,gnomAD
LBR	Q14739	p.Val188Ile	rs199796274	missense variant	-	NC_000001.11:g.225419341C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala189Thr	rs1196056286	missense variant	-	NC_000001.11:g.225419338C>T	TOPMed,gnomAD
LBR	Q14739	p.Lys190Arg	rs754133766	missense variant	-	NC_000001.11:g.225419334T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu192Arg	rs149760565	missense variant	-	NC_000001.11:g.225419328A>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val194Met	rs139988587	missense variant	-	NC_000001.11:g.225419323C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr200Asn	rs200288588	missense variant	-	NC_000001.11:g.225419304G>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg203Trp	rs775167348	missense variant	-	NC_000001.11:g.225419296G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg203Trp	RCV000379289	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225419296G>A	ClinVar
LBR	Q14739	p.Arg203Gln	rs142747191	missense variant	-	NC_000001.11:g.225419295C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala204Thr	rs776256289	missense variant	-	NC_000001.11:g.225419293C>T	ExAC,gnomAD
LBR	Q14739	p.Ala204Ser	rs776256289	missense variant	-	NC_000001.11:g.225419293C>A	ExAC,gnomAD
LBR	Q14739	p.Gly210Val	rs565288775	missense variant	-	NC_000001.11:g.225419274C>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Gly211Glu	rs531768440	missense variant	-	NC_000001.11:g.225419271C>T	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Val212Gly	rs772068458	missense variant	-	NC_000001.11:g.225419268A>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val212Ala	rs772068458	missense variant	-	NC_000001.11:g.225419268A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val212Ile	rs773288901	missense variant	-	NC_000001.11:g.225419269C>T	ExAC,gnomAD
LBR	Q14739	p.Val215Leu	rs776545053	missense variant	-	NC_000001.11:g.225418178C>G	ExAC,gnomAD
LBR	Q14739	p.Leu217Ile	rs766101498	missense variant	-	NC_000001.11:g.225418172G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile218Ter	RCV000656652	frameshift	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (PHASK)	NC_000001.11:g.225418168_225418170delinsTTTCTCATCA	ClinVar
LBR	Q14739	p.Met219Thr	rs2230421	missense variant	-	NC_000001.11:g.225418165A>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Met219Val	rs760606703	missense variant	-	NC_000001.11:g.225418166T>C	ExAC,gnomAD
LBR	Q14739	p.Pro223Ser	rs572319132	missense variant	-	NC_000001.11:g.225418154G>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Val224Leu	rs768982188	missense variant	-	NC_000001.11:g.225418151C>A	ExAC,gnomAD
LBR	Q14739	p.Phe225Ser	rs1342326976	missense variant	-	NC_000001.11:g.225418147A>G	TOPMed
LBR	Q14739	p.Leu226Ile	rs1317016745	missense variant	-	NC_000001.11:g.225418145G>T	gnomAD
LBR	Q14739	p.Phe227Leu	rs1453350254	missense variant	-	NC_000001.11:g.225418142A>G	gnomAD
LBR	Q14739	p.Met232Ile	rs1164798368	missense variant	-	NC_000001.11:g.225418125C>A	TOPMed,gnomAD
LBR	Q14739	p.Met232Ile	rs1164798368	missense variant	-	NC_000001.11:g.225418125C>T	TOPMed,gnomAD
LBR	Q14739	p.Cys233Tyr	rs749414790	missense variant	-	NC_000001.11:g.225418123C>T	ExAC,gnomAD
LBR	Q14739	p.Cys233Arg	rs1474443369	missense variant	-	NC_000001.11:g.225418124A>G	TOPMed,gnomAD
LBR	Q14739	p.Lys234Arg	rs770244436	missense variant	-	NC_000001.11:g.225418120T>C	ExAC,gnomAD
LBR	Q14739	p.Lys234Glu	rs780571341	missense variant	-	NC_000001.11:g.225418121T>C	ExAC,gnomAD
LBR	Q14739	p.Gln235Ter	rs1248666020	stop gained	-	NC_000001.11:g.225418118G>A	gnomAD
LBR	Q14739	p.Gln235Arg	rs746399322	missense variant	-	NC_000001.11:g.225418117T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp237Gly	rs373221926	missense variant	-	NC_000001.11:g.225418111T>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu240Val	rs1272518792	missense variant	-	NC_000001.11:g.225418103G>C	gnomAD
LBR	Q14739	p.Asn242Asp	rs886046053	missense variant	-	NC_000001.11:g.225418097T>C	-
LBR	Q14739	p.Asn242Asp	RCV000322395	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225418097T>C	ClinVar
LBR	Q14739	p.Phe243Ile	rs757805606	missense variant	-	NC_000001.11:g.225418094A>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro244Leu	rs1237899420	missense variant	-	NC_000001.11:g.225418090G>A	gnomAD
LBR	Q14739	p.Pro244Ser	rs752316294	missense variant	-	NC_000001.11:g.225418091G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro245Ser	rs778270986	missense variant	-	NC_000001.11:g.225418088G>A	ExAC,gnomAD
LBR	Q14739	p.Pro246His	rs1217973085	missense variant	-	NC_000001.11:g.225418084G>T	TOPMed
LBR	Q14739	p.Pro248Leu	rs140008883	missense variant	-	NC_000001.11:g.225418078G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala249Asp	RCV000264843	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225418075G>T	ClinVar
LBR	Q14739	p.Ala249Asp	rs200781118	missense variant	-	NC_000001.11:g.225418075G>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Glu252Asp	rs943153158	missense variant	-	NC_000001.11:g.225418065C>A	gnomAD
LBR	Q14739	p.Trp254Arg	rs1393344778	missense variant	-	NC_000001.11:g.225418061A>G	TOPMed,gnomAD
LBR	Q14739	p.Trp254Leu	rs766188080	missense variant	-	NC_000001.11:g.225418060C>A	ExAC
LBR	Q14739	p.Trp254Gly	rs1393344778	missense variant	-	NC_000001.11:g.225418061A>C	TOPMed,gnomAD
LBR	Q14739	p.Arg257Ile	rs752867763	missense variant	-	NC_000001.11:g.225418051C>A	ExAC,gnomAD
LBR	Q14739	p.Arg257Thr	rs752867763	missense variant	-	NC_000001.11:g.225418051C>G	ExAC,gnomAD
LBR	Q14739	p.Val258Gly	rs750192278	missense variant	-	NC_000001.11:g.225418048A>C	ExAC,gnomAD
LBR	Q14739	p.Tyr262Cys	rs989833855	missense variant	-	NC_000001.11:g.225418036T>C	TOPMed
LBR	Q14739	p.Leu263Pro	rs774504905	missense variant	-	NC_000001.11:g.225418033A>G	ExAC,gnomAD
LBR	Q14739	p.Leu263Phe	rs761645957	missense variant	-	NC_000001.11:g.225418034G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile268Val	rs1191678063	missense variant	-	NC_000001.11:g.225418019T>C	gnomAD
LBR	Q14739	p.Val270Ile	rs571188946	missense variant	-	NC_000001.11:g.225418013C>T	1000Genomes
LBR	Q14739	p.Phe272Val	rs775806204	missense variant	-	NC_000001.11:g.225418007A>C	ExAC,gnomAD
LBR	Q14739	p.Phe272Leu	rs770117907	missense variant	-	NC_000001.11:g.225418005G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu275Val	rs771523780	missense variant	-	NC_000001.11:g.225417998G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile277Thr	rs754401622	missense variant	-	NC_000001.11:g.225417991A>G	ExAC,gnomAD
LBR	Q14739	p.Ile277Phe	rs369086850	missense variant	-	NC_000001.11:g.225417992T>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile277Val	rs369086850	missense variant	-	NC_000001.11:g.225417992T>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile277Met	rs1324743572	missense variant	-	NC_000001.11:g.225417990A>C	gnomAD
LBR	Q14739	p.Val280Gly	rs1325056362	missense variant	-	NC_000001.11:g.225415331A>C	gnomAD
LBR	Q14739	p.Glu282Gly	rs1375140616	missense variant	-	NC_000001.11:g.225415325T>C	TOPMed,gnomAD
LBR	Q14739	p.Gly283Arg	rs937215428	missense variant	-	NC_000001.11:g.225415323C>T	gnomAD
LBR	Q14739	p.Thr284Met	RCV000757430	missense variant	-	NC_000001.11:g.225415319G>A	ClinVar
LBR	Q14739	p.Thr284Met	rs371750924	missense variant	-	NC_000001.11:g.225415319G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr284Lys	rs371750924	missense variant	-	NC_000001.11:g.225415319G>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile287Thr	rs201093644	missense variant	-	NC_000001.11:g.225415310A>G	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Asp288His	rs1425669232	missense variant	-	NC_000001.11:g.225415308C>G	gnomAD
LBR	Q14739	p.Asp288Asn	rs1425669232	missense variant	-	NC_000001.11:g.225415308C>T	gnomAD
LBR	Q14739	p.Gly289Glu	rs148541545	missense variant	-	NC_000001.11:g.225415304C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gly289Glu	RCV000202858	missense variant	-	NC_000001.11:g.225415304C>T	ClinVar
LBR	Q14739	p.Gly289Glu	RCV000766850	missense variant	-	NC_000001.11:g.225415304C>T	ClinVar
LBR	Q14739	p.Arg291Ser	rs1168968932	missense variant	-	NC_000001.11:g.225415297T>G	TOPMed
LBR	Q14739	p.Leu292Phe	rs755779401	missense variant	-	NC_000001.11:g.225415296G>A	ExAC,gnomAD
LBR	Q14739	p.Lys293Arg	rs1255016152	missense variant	-	NC_000001.11:g.225415292T>C	gnomAD
LBR	Q14739	p.Tyr294Cys	rs1064797142	missense variant	-	NC_000001.11:g.225415289T>C	-
LBR	Q14739	p.Tyr294Cys	RCV000488130	missense variant	-	NC_000001.11:g.225415289T>C	ClinVar
LBR	Q14739	p.Phe299Leu	rs1163102510	missense variant	-	NC_000001.11:g.225412643A>G	gnomAD
LBR	Q14739	p.Tyr300Cys	RCV000362903	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225412639T>C	ClinVar
LBR	Q14739	p.Tyr300Cys	rs2230422	missense variant	-	NC_000001.11:g.225412639T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala301Val	rs756298358	missense variant	-	NC_000001.11:g.225412636G>A	ExAC,gnomAD
LBR	Q14739	p.Ile303Asn	rs1165682529	missense variant	-	NC_000001.11:g.225412630A>T	gnomAD
LBR	Q14739	p.Ala307Ser	rs762215626	missense variant	-	NC_000001.11:g.225412619C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala307Val	rs1259631860	missense variant	-	NC_000001.11:g.225412618G>A	TOPMed
LBR	Q14739	p.Ile309Val	rs1458202605	missense variant	-	NC_000001.11:g.225412613T>C	gnomAD
LBR	Q14739	p.Gly310Arg	rs773059198	missense variant	-	NC_000001.11:g.225412610C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr311Ala	rs2275601	missense variant	-	NC_000001.11:g.225412607T>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr311Pro	rs2275601	missense variant	-	NC_000001.11:g.225412607T>G	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu313Val	rs1265688339	missense variant	-	NC_000001.11:g.225412601G>C	gnomAD
LBR	Q14739	p.Phe314Leu	rs532717763	missense variant	-	NC_000001.11:g.225412598A>G	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Gly316Asp	rs772870100	missense variant	-	NC_000001.11:g.225412591C>T	ExAC,gnomAD
LBR	Q14739	p.Val317Ala	rs778842130	missense variant	-	NC_000001.11:g.225412588A>G	ExAC,gnomAD
LBR	Q14739	p.Val317Leu	rs532068854	missense variant	-	NC_000001.11:g.225412589C>G	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val317Ile	rs532068854	missense variant	-	NC_000001.11:g.225412589C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Phe319Ser	rs780032261	missense variant	-	NC_000001.11:g.225412582A>G	ExAC,gnomAD
LBR	Q14739	p.His320Arg	RCV000276302	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225412579T>C	ClinVar
LBR	Q14739	p.His320Gln	rs1408746181	missense variant	-	NC_000001.11:g.225412578A>C	gnomAD
LBR	Q14739	p.His320Arg	rs201654506	missense variant	-	NC_000001.11:g.225412579T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val322Met	rs145104817	missense variant	-	NC_000001.11:g.225412574C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr323His	rs757467143	missense variant	-	NC_000001.11:g.225412571A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr323Ser	rs372399119	missense variant	-	NC_000001.11:g.225412570T>G	ESP
LBR	Q14739	p.Leu331Phe	rs201609720	missense variant	-	NC_000001.11:g.225412547G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu331Val	rs201609720	missense variant	-	NC_000001.11:g.225412547G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala332Gly	rs141647564	missense variant	-	NC_000001.11:g.225412543G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala332Val	rs141647564	missense variant	-	NC_000001.11:g.225412543G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val335Leu	rs765826557	missense variant	-	NC_000001.11:g.225412535C>G	ExAC,gnomAD
LBR	Q14739	p.Val335Gly	rs950583872	missense variant	-	NC_000001.11:g.225412534A>C	TOPMed,gnomAD
LBR	Q14739	p.Val339Phe	rs1486157539	missense variant	-	NC_000001.11:g.225412523C>A	TOPMed
LBR	Q14739	p.Val342Met	rs772814364	missense variant	-	NC_000001.11:g.225412514C>T	ExAC,gnomAD
LBR	Q14739	p.Met346Thr	rs916315587	missense variant	-	NC_000001.11:g.225412501A>G	gnomAD
LBR	Q14739	p.Arg347Cys	rs141837466	missense variant	-	NC_000001.11:g.225412499G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg347His	rs761503513	missense variant	-	NC_000001.11:g.225412498C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu349Ser	rs774295347	missense variant	-	NC_000001.11:g.225412492A>G	ExAC,gnomAD
LBR	Q14739	p.Ala351Thr	rs1454335895	missense variant	-	NC_000001.11:g.225412487C>T	TOPMed,gnomAD
LBR	Q14739	p.Ala351Val	rs560305402	missense variant	-	NC_000001.11:g.225412486G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro352Leu	rs372090173	missense variant	-	NC_000001.11:g.225412483G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro352Ser	rs1438230432	missense variant	-	NC_000001.11:g.225412484G>A	TOPMed
LBR	Q14739	p.Arg353Gln	rs368253687	missense variant	-	NC_000001.11:g.225412480C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg353Trp	rs138731836	missense variant	-	NC_000001.11:g.225412481G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser357Leu	rs149077819	missense variant	-	NC_000001.11:g.225412468G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro358Leu	rs778139850	missense variant	-	NC_000001.11:g.225412465G>A	ExAC,gnomAD
LBR	Q14739	p.Pro358Ser	rs145328578	missense variant	-	NC_000001.11:g.225412466G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser361Phe	rs61731741	missense variant	-	NC_000001.11:g.225412456G>A	gnomAD
LBR	Q14739	p.Ser361Cys	rs61731741	missense variant	-	NC_000001.11:g.225412456G>C	gnomAD
LBR	Q14739	p.Ala364Thr	rs192884088	missense variant	-	NC_000001.11:g.225411435C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val365Ile	rs1385535432	missense variant	-	NC_000001.11:g.225411432C>T	gnomAD
LBR	Q14739	p.Tyr366Cys	rs760213489	missense variant	-	NC_000001.11:g.225411428T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asp367Glu	rs1211967159	missense variant	-	NC_000001.11:g.225411424A>C	TOPMed
LBR	Q14739	p.Asp367Gly	rs1316644897	missense variant	-	NC_000001.11:g.225411425T>C	TOPMed
LBR	Q14739	p.Ile370Thr	rs1189063395	missense variant	-	NC_000001.11:g.225411416A>G	gnomAD
LBR	Q14739	p.Arg372Cys	RCV000010141	missense variant	Reynolds syndrome	NC_000001.11:g.225411411G>A	ClinVar
LBR	Q14739	p.Arg372Cys	rs200180113	missense variant	-	NC_000001.11:g.225411411G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg372His	rs747250396	missense variant	-	NC_000001.11:g.225411410C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn375Ser	rs977194928	missense variant	-	NC_000001.11:g.225411401T>C	TOPMed
LBR	Q14739	p.Pro376Arg	rs778014876	missense variant	-	NC_000001.11:g.225411398G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg377Gln	rs750036742	missense variant	-	NC_000001.11:g.225411395C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg377Gln	RCV000756302	missense variant	-	NC_000001.11:g.225411395C>T	ClinVar
LBR	Q14739	p.Gly379Cys	rs748609557	missense variant	-	NC_000001.11:g.225411390C>A	ExAC,gnomAD
LBR	Q14739	p.Thr380Ala	rs779092617	missense variant	-	NC_000001.11:g.225411387T>C	ExAC,gnomAD
LBR	Q14739	p.Tyr385Cys	rs199944519	missense variant	-	NC_000001.11:g.225411371T>C	1000Genomes,gnomAD
LBR	Q14739	p.Phe386Val	rs780875833	missense variant	-	NC_000001.11:g.225411369A>C	ExAC,gnomAD
LBR	Q14739	p.Cys387Gly	rs1444402654	missense variant	-	NC_000001.11:g.225411366A>C	TOPMed,gnomAD
LBR	Q14739	p.Cys387Tyr	rs751082807	missense variant	-	NC_000001.11:g.225411365C>T	ExAC,gnomAD
LBR	Q14739	p.Cys387Arg	rs1444402654	missense variant	-	NC_000001.11:g.225411366A>G	TOPMed,gnomAD
LBR	Q14739	p.Leu389Ser	rs763875580	missense variant	-	NC_000001.11:g.225411359A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg390His	rs752549085	missense variant	-	NC_000001.11:g.225411356C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg390Cys	rs762500645	missense variant	-	NC_000001.11:g.225411357G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Pro391Leu	rs1164592698	missense variant	-	NC_000001.11:g.225411353G>A	gnomAD
LBR	Q14739	p.Gly392Arg	RCV000515924	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000001.11:g.225411351C>T	ClinVar
LBR	Q14739	p.Gly392Arg	rs1236962991	missense variant	-	NC_000001.11:g.225411351C>T	gnomAD
LBR	Q14739	p.Gly395Glu	rs759500897	missense variant	-	NC_000001.11:g.225411341C>T	ExAC,gnomAD
LBR	Q14739	p.Val398Phe	rs1261585802	missense variant	-	NC_000001.11:g.225410413C>A	TOPMed
LBR	Q14739	p.Ala406Thr	rs760590170	missense variant	-	NC_000001.11:g.225410389C>T	ExAC,gnomAD
LBR	Q14739	p.Met408Lys	rs1307658193	missense variant	-	NC_000001.11:g.225410382A>T	gnomAD
LBR	Q14739	p.Gln411His	rs773349855	missense variant	-	NC_000001.11:g.225410372C>G	ExAC,gnomAD
LBR	Q14739	p.Gln411Arg	rs1218508469	missense variant	-	NC_000001.11:g.225410373T>C	gnomAD
LBR	Q14739	p.Arg413His	rs534522882	missense variant	-	NC_000001.11:g.225410367C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg413Cys	rs144672633	missense variant	-	NC_000001.11:g.225410368G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala414Thr	rs765875442	missense variant	-	NC_000001.11:g.225410365C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser417Pro	rs749737302	missense variant	-	NC_000001.11:g.225410356A>G	ExAC,gnomAD
LBR	Q14739	p.Met420Val	rs1039551489	missense variant	-	NC_000001.11:g.225410347T>C	TOPMed
LBR	Q14739	p.Ile421Val	rs1433169701	missense variant	-	NC_000001.11:g.225410344T>C	gnomAD
LBR	Q14739	p.Phe426Leu	rs139059920	missense variant	-	NC_000001.11:g.225410327G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr430Cys	rs138769892	missense variant	-	NC_000001.11:g.225410316T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr430His	rs373006705	missense variant	-	NC_000001.11:g.225410317A>G	ESP
LBR	Q14739	p.Val432Met	rs1354117075	missense variant	-	NC_000001.11:g.225410311C>T	TOPMed
LBR	Q14739	p.Asp433Asn	rs777371608	missense variant	-	NC_000001.11:g.225410308C>T	ExAC,gnomAD
LBR	Q14739	p.Ala434Thr	rs141750416	missense variant	-	NC_000001.11:g.225410305C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala434Ser	rs141750416	missense variant	-	NC_000001.11:g.225410305C>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn437Ser	rs1301532168	missense variant	-	NC_000001.11:g.225410295T>C	TOPMed,gnomAD
LBR	Q14739	p.Glu438Ala	rs1209489811	missense variant	-	NC_000001.11:g.225410292T>G	TOPMed,gnomAD
LBR	Q14739	p.Ala440Thr	rs747674311	missense variant	-	NC_000001.11:g.225406829C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala440Pro	rs747674311	missense variant	-	NC_000001.11:g.225406829C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala440Val	rs778378796	missense variant	-	NC_000001.11:g.225406828G>A	ExAC,gnomAD
LBR	Q14739	p.Thr443Lys	rs531565954	missense variant	-	NC_000001.11:g.225406819G>T	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Thr443Met	RCV000335811	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225406819G>A	ClinVar
LBR	Q14739	p.Thr443Met	rs531565954	missense variant	-	NC_000001.11:g.225406819G>A	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Thr443Arg	rs531565954	missense variant	-	NC_000001.11:g.225406819G>C	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Thr444Ser	rs186333444	missense variant	-	NC_000001.11:g.225406816G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr444Asn	rs186333444	missense variant	-	NC_000001.11:g.225406816G>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Met445Val	rs148033978	missense variant	-	NC_000001.11:g.225406814T>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile447Met	rs374446877	missense variant	-	NC_000001.11:g.225406806G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile447Asn	rs1453936270	missense variant	-	NC_000001.11:g.225406807A>T	gnomAD
LBR	Q14739	p.His449Tyr	rs1415649191	missense variant	-	NC_000001.11:g.225406802G>A	TOPMed
LBR	Q14739	p.Asp450Asn	rs775804258	missense variant	-	NC_000001.11:g.225406799C>T	ExAC,gnomAD
LBR	Q14739	p.Phe452Ser	rs762651731	missense variant	-	NC_000001.11:g.225406792A>G	ExAC,gnomAD
LBR	Q14739	p.Met455Leu	rs369788407	missense variant	-	NC_000001.11:g.225406784T>G	ESP,ExAC,gnomAD
LBR	Q14739	p.Leu456Val	RCV000489302	missense variant	-	NC_000001.11:g.225406781G>C	ClinVar
LBR	Q14739	p.Leu456Val	RCV000763831	missense variant	Pelger-Huët anomaly (PHA)	NC_000001.11:g.225406781G>C	ClinVar
LBR	Q14739	p.Leu456Val	rs377110126	missense variant	-	NC_000001.11:g.225406781G>C	ESP,ExAC,gnomAD
LBR	Q14739	p.Leu456Pro	rs1445718271	missense variant	-	NC_000001.11:g.225406780A>G	TOPMed
LBR	Q14739	p.Val462Leu	rs372303989	missense variant	-	NC_000001.11:g.225406763C>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val464Ile	rs954946766	missense variant	-	NC_000001.11:g.225406757C>T	gnomAD
LBR	Q14739	p.Val464Phe	rs954946766	missense variant	-	NC_000001.11:g.225406757C>A	gnomAD
LBR	Q14739	p.Pro465Ala	rs1227606098	missense variant	-	NC_000001.11:g.225406754G>C	TOPMed
LBR	Q14739	p.Phe466Val	rs1049341078	missense variant	-	NC_000001.11:g.225406751A>C	TOPMed,gnomAD
LBR	Q14739	p.Ile467Phe	rs201212744	missense variant	-	NC_000001.11:g.225406748T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr468Ter	RCV000087267	frameshift	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225406747del	ClinVar
LBR	Q14739	p.Ala472Ser	rs1242076313	missense variant	-	NC_000001.11:g.225406733C>A	gnomAD
LBR	Q14739	p.Leu475Ile	RCV000506162	missense variant	-	NC_000001.11:g.225406724A>T	ClinVar
LBR	Q14739	p.Leu475Ser	rs779726211	missense variant	-	NC_000001.11:g.225406723A>G	ExAC,gnomAD
LBR	Q14739	p.Leu475Ile	rs1553395780	missense variant	-	NC_000001.11:g.225406724A>T	-
LBR	Q14739	p.Ser477Thr	rs371531855	missense variant	-	NC_000001.11:g.225406717C>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser477Gly	rs376070025	missense variant	-	NC_000001.11:g.225406718T>C	ESP,ExAC,gnomAD
LBR	Q14739	p.Asn480Tyr	rs1376867105	missense variant	-	NC_000001.11:g.225406709T>A	gnomAD
LBR	Q14739	p.Ser483Ala	rs780983309	missense variant	-	NC_000001.11:g.225406700A>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Trp484Ser	rs751503823	missense variant	-	NC_000001.11:g.225406696C>G	ExAC,gnomAD
LBR	Q14739	p.Pro485Thr	rs1440124856	missense variant	-	NC_000001.11:g.225406694G>T	gnomAD
LBR	Q14739	p.Met486Val	rs778020291	missense variant	-	NC_000001.11:g.225406691T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala487Ser	rs1053523660	missense variant	-	NC_000001.11:g.225406688C>A	TOPMed
LBR	Q14739	p.Ser488Pro	rs1367673808	missense variant	-	NC_000001.11:g.225406685A>G	gnomAD
LBR	Q14739	p.Leu489Val	rs900536861	missense variant	-	NC_000001.11:g.225406682G>C	gnomAD
LBR	Q14739	p.Ile490Ser	rs934709705	missense variant	-	NC_000001.11:g.225406678A>C	TOPMed,gnomAD
LBR	Q14739	p.Ile491Val	rs886046052	missense variant	-	NC_000001.11:g.225406676T>C	TOPMed
LBR	Q14739	p.Ile491Val	RCV000297273	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225406676T>C	ClinVar
LBR	Q14739	p.Leu495Ile	rs541202772	missense variant	-	NC_000001.11:g.225406664G>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu495Phe	rs541202772	missense variant	-	NC_000001.11:g.225406664G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu495His	rs746777423	missense variant	-	NC_000001.11:g.225404706A>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Cys496Trp	rs1192433983	missense variant	-	NC_000001.11:g.225404702A>C	TOPMed,gnomAD
LBR	Q14739	p.Tyr498Asn	rs1487027204	missense variant	-	NC_000001.11:g.225404698A>T	gnomAD
LBR	Q14739	p.Phe501Leu	rs549177877	missense variant	-	NC_000001.11:g.225404687G>T	1000Genomes,ExAC,gnomAD
LBR	Q14739	p.Arg502Gly	RCV000493673	missense variant	-	NC_000001.11:g.225404686G>C	ClinVar
LBR	Q14739	p.Arg502Gly	rs1131691304	missense variant	-	NC_000001.11:g.225404686G>C	gnomAD
LBR	Q14739	p.Arg502Gln	rs758405025	missense variant	-	NC_000001.11:g.225404685C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala504Val	rs752877544	missense variant	-	NC_000001.11:g.225404679G>A	ExAC,gnomAD
LBR	Q14739	p.Ala504Thr	rs987262840	missense variant	-	NC_000001.11:g.225404680C>T	TOPMed,gnomAD
LBR	Q14739	p.Ala504Gly	rs752877544	missense variant	-	NC_000001.11:g.225404679G>C	ExAC,gnomAD
LBR	Q14739	p.Asn505Asp	rs967498079	missense variant	-	NC_000001.11:g.225404677T>C	TOPMed,gnomAD
LBR	Q14739	p.Ala510Thr	rs78828796	missense variant	-	NC_000001.11:g.225404662C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg512Gln	RCV000483832	missense variant	-	NC_000001.11:g.225404655C>T	ClinVar
LBR	Q14739	p.Arg512Trp	rs373561199	missense variant	-	NC_000001.11:g.225404656G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg512Gln	rs754049402	missense variant	-	NC_000001.11:g.225404655C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn514Ser	rs1320447431	missense variant	-	NC_000001.11:g.225404649T>C	gnomAD
LBR	Q14739	p.Ser516Asn	rs1170693139	missense variant	-	NC_000001.11:g.225404643C>T	gnomAD
LBR	Q14739	p.Pro518Ser	rs761070731	missense variant	-	NC_000001.11:g.225404638G>A	ExAC,gnomAD
LBR	Q14739	p.Leu520Val	rs201172537	missense variant	-	NC_000001.11:g.225404632G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala521Pro	rs372250618	missense variant	-	NC_000001.11:g.225404629C>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala521Ser	rs372250618	missense variant	-	NC_000001.11:g.225404629C>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.His522Tyr	rs753611856	missense variant	-	NC_000001.11:g.225404626G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.His522Leu	rs372078910	missense variant	-	NC_000001.11:g.225404526T>A	ESP,TOPMed
LBR	Q14739	p.His522Asp	rs753611856	missense variant	-	NC_000001.11:g.225404626G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Lys524Asn	rs760341951	missense variant	-	NC_000001.11:g.225404519T>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr528Ile	rs1306305066	missense variant	-	NC_000001.11:g.225404508G>A	gnomAD
LBR	Q14739	p.Ser529Leu	rs773141972	missense variant	-	NC_000001.11:g.225404505G>A	ExAC,gnomAD
LBR	Q14739	p.Ser529Ter	rs773141972	stop gained	-	NC_000001.11:g.225404505G>T	ExAC,gnomAD
LBR	Q14739	p.Thr530Met	rs748116336	missense variant	-	NC_000001.11:g.225404502G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Thr530Ala	rs771949470	missense variant	-	NC_000001.11:g.225404503T>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.AsnLeuLeu533AsnTerLys	rs387906416	stop gained	Pelger-huet anomaly (pha)	NC_000001.11:g.225404486_225404492delinsCTTCTAG	-
LBR	Q14739	p.Leu534Ter	RCV000010137	nonsense	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404486_225404492delinsCTTCTAG	ClinVar
LBR	Q14739	p.Leu534Ter	RCV000087262	nonsense	Pelger-Huët anomaly (PHA)	NC_000001.11:g.225404486_225404492delinsCTTCTAG	ClinVar
LBR	Q14739	p.Leu534Ile	rs1352864124	missense variant	-	NC_000001.11:g.225404491G>T	TOPMed
LBR	Q14739	p.Leu535Val	rs774389031	missense variant	-	NC_000001.11:g.225404488G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser537Ala	RCV000224710	missense variant	-	NC_000001.11:g.225404482A>C	ClinVar
LBR	Q14739	p.Ser537Ala	rs80299691	missense variant	-	NC_000001.11:g.225404482A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gly541Arg	rs749446927	missense variant	-	NC_000001.11:g.225404470C>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val543Phe	rs1156536082	missense variant	-	NC_000001.11:g.225404464C>A	TOPMed,gnomAD
LBR	Q14739	p.Arg544His	rs1444693890	missense variant	-	NC_000001.11:g.225404460C>T	TOPMed,gnomAD
LBR	Q14739	p.Pro546Ser	rs779944455	missense variant	-	NC_000001.11:g.225404455G>A	ExAC
LBR	Q14739	p.Asn547Ser	RCV000210471	missense variant	Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia	NC_000001.11:g.225404451T>C	ClinVar
LBR	Q14739	p.Asn547Asp	rs587777171	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404452T>C	UniProt,dbSNP
LBR	Q14739	p.Asn547Asp	VAR_081220	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404452T>C	UniProt
LBR	Q14739	p.Asn547Asp	rs587777171	missense variant	-	NC_000001.11:g.225404452T>C	gnomAD
LBR	Q14739	p.Asn547Ser	rs374343844	missense variant	Pelger-Huet anomaly with mild skeletal anomalies (PHASK)	NC_000001.11:g.225404451T>C	UniProt,dbSNP
LBR	Q14739	p.Asn547Ser	VAR_081006	missense variant	Pelger-Huet anomaly with mild skeletal anomalies (PHASK)	NC_000001.11:g.225404451T>C	UniProt
LBR	Q14739	p.Asn547Ser	rs374343844	missense variant	-	NC_000001.11:g.225404451T>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Asn547Asp	RCV000087263	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404452T>C	ClinVar
LBR	Q14739	p.Asn547Ile	rs374343844	missense variant	-	NC_000001.11:g.225404451T>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr548Cys	rs781561574	missense variant	-	NC_000001.11:g.225404448T>C	ExAC,gnomAD
LBR	Q14739	p.Leu552Phe	rs1176137959	missense variant	-	NC_000001.11:g.225404437G>A	TOPMed
LBR	Q14739	p.Met554Thr	rs751837075	missense variant	-	NC_000001.11:g.225404430A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Leu556Phe	rs764727862	missense variant	-	NC_000001.11:g.225404423C>A	ExAC,gnomAD
LBR	Q14739	p.Ala557Val	RCV000284385	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225404421G>A	ClinVar
LBR	Q14739	p.Ala557Val	rs202123513	missense variant	-	NC_000001.11:g.225404421G>A	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ser559Phe	rs1374598658	missense variant	-	NC_000001.11:g.225404415G>A	TOPMed
LBR	Q14739	p.Pro561Ala	rs192296368	missense variant	-	NC_000001.11:g.225404410G>C	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Cys562Phe	rs1337761262	missense variant	-	NC_000001.11:g.225404406C>A	TOPMed
LBR	Q14739	p.Phe564Leu	rs779730656	missense variant	-	NC_000001.11:g.225403459A>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.His566Tyr	rs755731775	missense variant	-	NC_000001.11:g.225403455G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile567Leu	rs767339628	missense variant	-	NC_000001.11:g.225403452T>G	ExAC,gnomAD
LBR	Q14739	p.Pro569Arg	rs137852606	missense variant	-	NC_000001.11:g.225403445G>C	-
LBR	Q14739	p.Pro569Arg	rs137852606	missense variant	Pelger-Huet anomaly (PHA)	NC_000001.11:g.225403445G>C	UniProt,dbSNP
LBR	Q14739	p.Pro569Arg	VAR_017842	missense variant	Pelger-Huet anomaly (PHA)	NC_000001.11:g.225403445G>C	UniProt
LBR	Q14739	p.Tyr570His	rs146204188	missense variant	-	NC_000001.11:g.225403443A>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Phe571Leu	rs897450329	missense variant	-	NC_000001.11:g.225403438G>C	TOPMed,gnomAD
LBR	Q14739	p.Ile573Met	rs1409601053	missense variant	-	NC_000001.11:g.225403432T>C	TOPMed
LBR	Q14739	p.Ile574Met	rs1427564477	missense variant	-	NC_000001.11:g.225403429A>C	gnomAD
LBR	Q14739	p.Tyr575Cys	rs1179013007	missense variant	-	NC_000001.11:g.225403427T>C	TOPMed,gnomAD
LBR	Q14739	p.Thr577Ile	rs143181005	missense variant	-	NC_000001.11:g.225403421G>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Met578Ile	rs1358335705	missense variant	-	NC_000001.11:g.225403417C>A	TOPMed
LBR	Q14739	p.Leu579Phe	rs1262705462	missense variant	-	NC_000001.11:g.225403414C>A	gnomAD
LBR	Q14739	p.Leu580His	rs1317084127	missense variant	-	NC_000001.11:g.225403412A>T	gnomAD
LBR	Q14739	p.Val581Phe	rs1486861811	missense variant	-	NC_000001.11:g.225403410C>A	TOPMed,gnomAD
LBR	Q14739	p.Val581Ile	rs1486861811	missense variant	-	NC_000001.11:g.225403410C>T	TOPMed,gnomAD
LBR	Q14739	p.Arg583Gln	rs587777172	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225403403C>T	UniProt,dbSNP
LBR	Q14739	p.Arg583Gln	VAR_081221	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225403403C>T	UniProt
LBR	Q14739	p.Arg583Gln	rs587777172	missense variant	-	NC_000001.11:g.225403403C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg583Leu	rs587777172	missense variant	-	NC_000001.11:g.225403403C>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg583Ter	rs1057516045	stop gained	-	NC_000001.11:g.225403404G>A	gnomAD
LBR	Q14739	p.Arg583Leu	RCV000480212	missense variant	-	NC_000001.11:g.225403403C>A	ClinVar
LBR	Q14739	p.Arg583Gln	RCV000087264	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225403403C>T	ClinVar
LBR	Q14739	p.Arg583Ter	RCV000626821	nonsense	-	NC_000001.11:g.225403404G>A	ClinVar
LBR	Q14739	p.Arg586His	RCV000656653	missense variant	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (PHASK)	NC_000001.11:g.225403394C>T	ClinVar
LBR	Q14739	p.Arg586Cys	rs199675363	missense variant	-	NC_000001.11:g.225403395G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg586His	rs573510559	missense variant	-	NC_000001.11:g.225403394C>T	1000Genomes,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg586His	rs573510559	missense variant	Pelger-Huet anomaly with mild skeletal anomalies (PHASK)	NC_000001.11:g.225403394C>T	UniProt,dbSNP
LBR	Q14739	p.Arg586His	VAR_081007	missense variant	Pelger-Huet anomaly with mild skeletal anomalies (PHASK)	NC_000001.11:g.225403394C>T	UniProt
LBR	Q14739	p.Asp587Glu	rs149534786	missense variant	-	NC_000001.11:g.225403390G>C	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Glu588Lys	rs138067182	missense variant	-	NC_000001.11:g.225403389C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.His590Arg	rs1215843389	missense variant	-	NC_000001.11:g.225403382T>C	TOPMed,gnomAD
LBR	Q14739	p.Cys591Tyr	rs772275229	missense variant	-	NC_000001.11:g.225403379C>T	ExAC,gnomAD
LBR	Q14739	p.Tyr595Ter	rs758568680	stop gained	-	NC_000001.11:g.225403366G>C	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gly596Val	rs779601553	missense variant	-	NC_000001.11:g.225403364C>A	ExAC
LBR	Q14739	p.Val597Met	rs371589487	missense variant	-	NC_000001.11:g.225403362C>T	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val597Leu	rs371589487	missense variant	-	NC_000001.11:g.225403362C>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Val597Leu	rs371589487	missense variant	-	NC_000001.11:g.225403362C>A	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ala598Val	rs751127239	missense variant	-	NC_000001.11:g.225403358G>A	ExAC,gnomAD
LBR	Q14739	p.Trp599Arg	rs1439795101	missense variant	-	NC_000001.11:g.225403356A>T	TOPMed
LBR	Q14739	p.Lys601Thr	rs141243190	missense variant	-	NC_000001.11:g.225403349T>G	ESP,ExAC,TOPMed,gnomAD
LBR	Q14739	p.Tyr602His	rs762700017	missense variant	-	NC_000001.11:g.225403347A>G	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Gln604Lys	rs1455371337	missense variant	-	NC_000001.11:g.225403341G>T	TOPMed
LBR	Q14739	p.Arg605His	rs377008758	missense variant	-	NC_000001.11:g.225403337C>T	ESP,ExAC,gnomAD
LBR	Q14739	p.Arg605Cys	rs918778528	missense variant	-	NC_000001.11:g.225403338G>A	TOPMed,gnomAD
LBR	Q14739	p.Pro607Ala	rs765213528	missense variant	-	NC_000001.11:g.225403332G>C	ExAC,gnomAD
LBR	Q14739	p.Pro607His	rs779151785	missense variant	-	NC_000001.11:g.225403331G>T	ExAC,gnomAD
LBR	Q14739	p.Pro607Ser	rs765213528	missense variant	-	NC_000001.11:g.225403332G>A	ExAC,gnomAD
LBR	Q14739	p.Tyr608Ser	rs1332502900	missense variant	-	NC_000001.11:g.225403328T>G	TOPMed
LBR	Q14739	p.Arg609His	rs766329359	missense variant	-	NC_000001.11:g.225403325C>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg609Ser	rs776693237	missense variant	-	NC_000001.11:g.225403326G>T	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Arg609Cys	rs776693237	missense variant	-	NC_000001.11:g.225403326G>A	ExAC,TOPMed,gnomAD
LBR	Q14739	p.Ile610Val	rs886046051	missense variant	-	NC_000001.11:g.225403323T>C	-
LBR	Q14739	p.Ile610Val	RCV000376521	missense variant	Greenberg dysplasia (GRBGD)	NC_000001.11:g.225403323T>C	ClinVar
LBR	Q14739	p.Phe611Val	rs760973933	missense variant	-	NC_000001.11:g.225403320A>C	ExAC,gnomAD
LBR	Q14739	p.Pro612Thr	rs773353718	missense variant	-	NC_000001.11:g.225403317G>T	ExAC,gnomAD
LBR	Q14739	p.Tyr613Cys	rs911065623	missense variant	-	NC_000001.11:g.225403313T>C	TOPMed
LBR	Q14739	p.Tyr613Phe	rs911065623	missense variant	-	NC_000001.11:g.225403313T>A	TOPMed
ARID5B	Q14865	p.Glu2Lys	rs144290238	missense variant	-	NC_000010.11:g.61901713G>A	ESP,TOPMed,gnomAD
ARID5B	Q14865	p.Glu2Gln	rs144290238	missense variant	-	NC_000010.11:g.61901713G>C	ESP,TOPMed,gnomAD
ARID5B	Q14865	p.Glu2Asp	rs140010870	missense variant	-	NC_000010.11:g.61901715G>T	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Glu2Asp	rs140010870	missense variant	-	NC_000010.11:g.61901715G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro3Ala	rs189036287	missense variant	-	NC_000010.11:g.61901716C>G	1000Genomes
ARID5B	Q14865	p.Pro3Leu	rs762663091	missense variant	-	NC_000010.11:g.61901717C>T	ExAC,gnomAD
ARID5B	Q14865	p.Asn4Ser	rs766062378	missense variant	-	NC_000010.11:g.61901720A>G	ExAC,TOPMed
ARID5B	Q14865	p.Asn4Asp	rs1328941922	missense variant	-	NC_000010.11:g.61901719A>G	TOPMed
ARID5B	Q14865	p.Asn4Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61901720A>C	NCI-TCGA
ARID5B	Q14865	p.Leu6Pro	rs1328574590	missense variant	-	NC_000010.11:g.61901726T>C	TOPMed,gnomAD
ARID5B	Q14865	p.Val9Phe	rs756054366	missense variant	-	NC_000010.11:g.61902162G>T	ExAC,gnomAD
ARID5B	Q14865	p.Gly10Ser	rs777591474	missense variant	-	NC_000010.11:g.61902165G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly10Arg	rs777591474	missense variant	-	NC_000010.11:g.61902165G>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro12Ser	rs749069080	missense variant	-	NC_000010.11:g.61902171C>T	ExAC,gnomAD
ARID5B	Q14865	p.Pro12Gln	rs1336394649	missense variant	-	NC_000010.11:g.61902172C>A	TOPMed,gnomAD
ARID5B	Q14865	p.Pro12Leu	rs1336394649	missense variant	-	NC_000010.11:g.61902172C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Cys13Tyr	rs1472043964	missense variant	-	NC_000010.11:g.61902175G>A	gnomAD
ARID5B	Q14865	p.Cys13Arg	rs1313253636	missense variant	-	NC_000010.11:g.61902174T>C	TOPMed
ARID5B	Q14865	p.Leu15Ser	COSM919359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902181T>C	NCI-TCGA Cosmic
ARID5B	Q14865	p.His16Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61902183C>T	NCI-TCGA
ARID5B	Q14865	p.Tyr22Phe	COSM3867579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902202A>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ala24Asp	COSM919360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902208C>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ala24Gly	rs773931184	missense variant	-	NC_000010.11:g.61902208C>G	ExAC,gnomAD
ARID5B	Q14865	p.Gln26His	rs1272298687	missense variant	-	NC_000010.11:g.61902215A>C	TOPMed,gnomAD
ARID5B	Q14865	p.Gln26SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.61902208_61902209insT	NCI-TCGA
ARID5B	Q14865	p.Phe27Val	rs202030299	missense variant	-	NC_000010.11:g.61902216T>G	1000Genomes,TOPMed,gnomAD
ARID5B	Q14865	p.Phe27Ile	rs202030299	missense variant	-	NC_000010.11:g.61902216T>A	1000Genomes,TOPMed,gnomAD
ARID5B	Q14865	p.Phe27Leu	rs202030299	missense variant	-	NC_000010.11:g.61902216T>C	1000Genomes,TOPMed,gnomAD
ARID5B	Q14865	p.Leu29Pro	rs1390468768	missense variant	-	NC_000010.11:g.61902223T>C	TOPMed
ARID5B	Q14865	p.Glu30Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61902226A>T	NCI-TCGA
ARID5B	Q14865	p.Arg34PhePheSerTerUnkUnk	COSM427744	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.61902236_61902239AAGA>-	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg34Ile	COSM1183595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902238G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg34Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61902238G>A	NCI-TCGA
ARID5B	Q14865	p.Arg34Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61902239A>C	NCI-TCGA
ARID5B	Q14865	p.Leu38Pro	rs1436671098	missense variant	-	NC_000010.11:g.61902250T>C	gnomAD
ARID5B	Q14865	p.Gly39Ser	rs1179582480	missense variant	-	NC_000010.11:g.61902252G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Cys46Ter	COSM1348516	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.61902275T>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Cys46Tyr	rs1053149301	missense variant	-	NC_000010.11:g.61902274G>A	TOPMed
ARID5B	Q14865	p.Cys46Phe	rs1053149301	missense variant	-	NC_000010.11:g.61902274G>T	TOPMed
ARID5B	Q14865	p.Thr47Lys	rs143621450	missense variant	-	NC_000010.11:g.61902277C>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys49Glu	rs371476471	missense variant	-	NC_000010.11:g.61902282A>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys49Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61902284G>T	NCI-TCGA
ARID5B	Q14865	p.Ile52Asn	rs765711052	missense variant	-	NC_000010.11:g.61902292T>A	ExAC,gnomAD
ARID5B	Q14865	p.Ile52Thr	rs765711052	missense variant	-	NC_000010.11:g.61902292T>C	ExAC,gnomAD
ARID5B	Q14865	p.Gln58Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.61902309C>T	NCI-TCGA
ARID5B	Q14865	p.Gln58His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61902311G>T	NCI-TCGA
ARID5B	Q14865	p.Arg64Lys	rs750884076	missense variant	-	NC_000010.11:g.61902328G>A	ExAC,gnomAD
ARID5B	Q14865	p.Thr65Pro	rs758661473	missense variant	-	NC_000010.11:g.61902330A>C	ExAC,gnomAD
ARID5B	Q14865	p.Ser66Thr	rs61743705	missense variant	-	NC_000010.11:g.61902334G>C	TOPMed
ARID5B	Q14865	p.Ser66Ile	rs61743705	missense variant	-	NC_000010.11:g.61902334G>T	TOPMed
ARID5B	Q14865	p.Ser71Thr	rs1311792241	missense variant	-	NC_000010.11:g.61902348T>A	gnomAD
ARID5B	Q14865	p.Ser72Cys	rs374710079	missense variant	-	NC_000010.11:g.61902351A>T	ESP
ARID5B	Q14865	p.Ser73Cys	rs1319655437	missense variant	-	NC_000010.11:g.61902355C>G	gnomAD
ARID5B	Q14865	p.Leu75Phe	rs766556983	missense variant	-	NC_000010.11:g.61902360C>T	ExAC,gnomAD
ARID5B	Q14865	p.Asp81Tyr	COSM919361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.61902378G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Gly85Ala	rs1258994700	missense variant	-	NC_000010.11:g.61902391G>C	gnomAD
ARID5B	Q14865	p.Asn87Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61902396A>T	NCI-TCGA
ARID5B	Q14865	p.Ser88Arg	rs964962818	missense variant	-	NC_000010.11:g.61902401C>A	gnomAD
ARID5B	Q14865	p.Asp89Gly	rs755042248	missense variant	-	NC_000010.11:g.61902403A>G	ExAC,gnomAD
ARID5B	Q14865	p.Ile96Leu	rs763340073	missense variant	-	NC_000010.11:g.61940192A>C	ExAC,gnomAD
ARID5B	Q14865	p.Glu100Lys	rs1423129750	missense variant	-	NC_000010.11:g.61940204G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Ile103Thr	rs759668203	missense variant	-	NC_000010.11:g.61940214T>C	ExAC,gnomAD
ARID5B	Q14865	p.Glu107Gly	rs767824699	missense variant	-	NC_000010.11:g.61940226A>G	ExAC,gnomAD
ARID5B	Q14865	p.Asp108Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61940228G>T	NCI-TCGA
ARID5B	Q14865	p.Val110Ile	rs1455393290	missense variant	-	NC_000010.11:g.61940234G>A	gnomAD
ARID5B	Q14865	p.Lys111Asn	rs75646870	missense variant	-	NC_000010.11:g.61940239G>C	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Trp112Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.61940240T>G	NCI-TCGA
ARID5B	Q14865	p.Val113Ala	rs1435659549	missense variant	-	NC_000010.11:g.61940244T>C	gnomAD
ARID5B	Q14865	p.Val113Leu	rs760770011	missense variant	-	NC_000010.11:g.61940243G>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val113Leu	rs760770011	missense variant	-	NC_000010.11:g.61940243G>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His114Tyr	rs1374823266	missense variant	-	NC_000010.11:g.61940246C>T	TOPMed,gnomAD
ARID5B	Q14865	p.His114Arg	rs765121514	missense variant	-	NC_000010.11:g.61940247A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His114Gln	rs200756363	missense variant	-	NC_000010.11:g.61940248T>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His114Asp	rs1374823266	missense variant	-	NC_000010.11:g.61940246C>G	TOPMed,gnomAD
ARID5B	Q14865	p.His114Pro	rs765121514	missense variant	-	NC_000010.11:g.61940247A>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser115Phe	rs1328907240	missense variant	-	NC_000010.11:g.61940250C>T	gnomAD
ARID5B	Q14865	p.Cys122Tyr	rs758155912	missense variant	-	NC_000010.11:g.61940271G>A	ExAC,gnomAD
ARID5B	Q14865	p.Cys122Gly	rs1227010944	missense variant	-	NC_000010.11:g.61940270T>G	TOPMed,gnomAD
ARID5B	Q14865	p.His125Tyr	rs1383005171	missense variant	-	NC_000010.11:g.61940279C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.His125Tyr	rs1383005171	missense variant	-	NC_000010.11:g.61940279C>T	TOPMed
ARID5B	Q14865	p.Ala126Thr	rs191606705	missense variant	-	NC_000010.11:g.61940282G>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ala126Ser	rs191606705	missense variant	-	NC_000010.11:g.61940282G>T	1000Genomes,TOPMed,gnomAD
ARID5B	Q14865	p.Ala126Thr	rs191606705	missense variant	-	NC_000010.11:g.61940282G>A	1000Genomes,TOPMed,gnomAD
ARID5B	Q14865	p.Gly127Arg	rs1481632794	missense variant	-	NC_000010.11:g.61940285G>A	gnomAD
ARID5B	Q14865	p.Lys130Thr	rs1411430312	missense variant	-	NC_000010.11:g.61940295A>C	gnomAD
ARID5B	Q14865	p.Thr131Ile	rs1471732928	missense variant	-	NC_000010.11:g.61940298C>T	gnomAD
ARID5B	Q14865	p.Ala133Gly	rs1414210136	missense variant	-	NC_000010.11:g.61940304C>G	gnomAD
ARID5B	Q14865	p.Ala133Thr	rs1166908296	missense variant	-	NC_000010.11:g.61940303G>A	gnomAD
ARID5B	Q14865	p.Gly135Arg	rs1404722747	missense variant	-	NC_000010.11:g.61940309G>A	gnomAD
ARID5B	Q14865	p.Asn137Asp	rs1355781913	missense variant	-	NC_000010.11:g.61940315A>G	gnomAD
ARID5B	Q14865	p.Gly138Arg	rs1395285453	missense variant	-	NC_000010.11:g.61940318G>A	TOPMed
ARID5B	Q14865	p.Glu141Ala	rs150284163	missense variant	-	NC_000010.11:g.61940328A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys145Thr	rs959498702	missense variant	-	NC_000010.11:g.61940340A>C	TOPMed
ARID5B	Q14865	p.Tyr146Ser	rs1416217803	missense variant	-	NC_000010.11:g.61940343A>C	TOPMed,gnomAD
ARID5B	Q14865	p.Arg147Lys	rs142921832	missense variant	-	NC_000010.11:g.61940346G>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gln148Leu	rs1357449702	missense variant	-	NC_000010.11:g.61940349A>T	gnomAD
ARID5B	Q14865	p.Thr150Ala	rs778364076	missense variant	-	NC_000010.11:g.61940354A>G	ExAC,gnomAD
ARID5B	Q14865	p.Leu151Arg	rs749741986	missense variant	-	NC_000010.11:g.61940358T>G	ExAC,gnomAD
ARID5B	Q14865	p.Leu151Gln	rs749741986	missense variant	-	NC_000010.11:g.61940358T>A	ExAC,gnomAD
ARID5B	Q14865	p.Leu151ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.61940353_61940359AACCCTA>-	NCI-TCGA
ARID5B	Q14865	p.Ser153Asn	rs1206047372	missense variant	-	NC_000010.11:g.61940364G>A	gnomAD
ARID5B	Q14865	p.Ser153Gly	rs771531834	missense variant	-	NC_000010.11:g.61940363A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly154Ala	rs774544271	missense variant	-	NC_000010.11:g.61940367G>C	ExAC,gnomAD
ARID5B	Q14865	p.Gly154Arg	rs1251156741	missense variant	-	NC_000010.11:g.61940366G>A	gnomAD
ARID5B	Q14865	p.Leu155Pro	rs766929055	missense variant	-	NC_000010.11:g.61940370T>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys158Arg	rs775723099	missense variant	-	NC_000010.11:g.61940379A>G	ExAC,gnomAD
ARID5B	Q14865	p.Val160Ile	rs550591609	missense variant	-	NC_000010.11:g.61940384G>A	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val160Ile	rs550591609	missense variant	-	NC_000010.11:g.61940384G>A	NCI-TCGA
ARID5B	Q14865	p.Glu163Gln	rs762796068	missense variant	-	NC_000010.11:g.61940393G>C	ExAC,gnomAD
ARID5B	Q14865	p.Lys164Glu	rs1368129255	missense variant	-	NC_000010.11:g.61940396A>G	gnomAD
ARID5B	Q14865	p.Ala165Val	rs1236257436	missense variant	-	NC_000010.11:g.61940400C>T	gnomAD
ARID5B	Q14865	p.Gly168Arg	rs1337944296	missense variant	-	NC_000010.11:g.61940408G>A	TOPMed
ARID5B	Q14865	p.Glu169Asp	rs146727947	missense variant	-	NC_000010.11:g.62000095G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu172Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62000102G>A	NCI-TCGA
ARID5B	Q14865	p.Thr174Ala	rs1438016192	missense variant	-	NC_000010.11:g.62000108A>G	gnomAD
ARID5B	Q14865	p.Thr174Met	rs766186442	missense variant	-	NC_000010.11:g.62000109C>T	ExAC,gnomAD
ARID5B	Q14865	p.Asn175Lys	rs774347986	missense variant	-	NC_000010.11:g.62000113C>A	ExAC,gnomAD
ARID5B	Q14865	p.Asn175Lys	rs774347986	missense variant	-	NC_000010.11:g.62000113C>G	ExAC,gnomAD
ARID5B	Q14865	p.Val176Met	rs141049493	missense variant	-	NC_000010.11:g.62000114G>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val176Leu	rs141049493	missense variant	-	NC_000010.11:g.62000114G>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val178Phe	rs1199032356	missense variant	-	NC_000010.11:g.62000120G>T	gnomAD
ARID5B	Q14865	p.Arg186Trp	COSM4015025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000144C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg188His	rs753241704	missense variant	-	NC_000010.11:g.62000151G>A	ExAC,gnomAD
ARID5B	Q14865	p.Ser189Trp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62000154C>G	NCI-TCGA
ARID5B	Q14865	p.Ile194Met	COSM684764	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000170C>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Asp196Gly	rs1320295439	missense variant	-	NC_000010.11:g.62000175A>G	gnomAD
ARID5B	Q14865	p.Lys197Asn	rs1387167632	missense variant	-	NC_000010.11:g.62000179G>T	gnomAD
ARID5B	Q14865	p.Pro198Ala	rs779223910	missense variant	-	NC_000010.11:g.62000180C>G	ExAC,gnomAD
ARID5B	Q14865	p.Ser199Thr	rs746403761	missense variant	-	NC_000010.11:g.62000183T>A	ExAC,gnomAD
ARID5B	Q14865	p.Leu202Val	rs758963278	missense variant	-	NC_000010.11:g.62000192C>G	ExAC,gnomAD
ARID5B	Q14865	p.Thr203Met	rs747413904	missense variant	-	NC_000010.11:g.62000196C>T	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Thr203Met	rs747413904	missense variant	-	NC_000010.11:g.62000196C>T	ExAC,gnomAD
ARID5B	Q14865	p.Asp204Tyr	rs781507927	missense variant	-	NC_000010.11:g.62000198G>T	ExAC,gnomAD
ARID5B	Q14865	p.Asp204Glu	rs1227632411	missense variant	-	NC_000010.11:g.62000200C>A	gnomAD
ARID5B	Q14865	p.Asp204AsnPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000010.11:g.62000196_62000197insAAATGAGCACAAAATAAAGTGA	NCI-TCGA
ARID5B	Q14865	p.Asp204Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62000199A>T	NCI-TCGA
ARID5B	Q14865	p.Gln205His	rs748109683	missense variant	-	NC_000010.11:g.62000203G>C	ExAC,gnomAD
ARID5B	Q14865	p.Ala207Val	rs1210330333	missense variant	-	NC_000010.11:g.62000208C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Ala207Thr	rs543501415	missense variant	-	NC_000010.11:g.62000207G>A	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly212Ser	rs202022815	missense variant	-	NC_000010.11:g.62000222G>A	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Arg218Trp	COSM1474695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000240A>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg218Gly	rs1391718140	missense variant	-	NC_000010.11:g.62000240A>G	TOPMed
ARID5B	Q14865	p.Asn219Ser	rs775399612	missense variant	-	NC_000010.11:g.62000244A>G	ExAC,gnomAD
ARID5B	Q14865	p.Pro220Ser	rs1166230083	missense variant	-	NC_000010.11:g.62000246C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Gln221His	COSM919364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000251G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg226Gln	rs990119259	missense variant	-	NC_000010.11:g.62000265G>A	TOPMed
ARID5B	Q14865	p.Thr228Ile	rs1410727401	missense variant	-	NC_000010.11:g.62000271C>T	gnomAD
ARID5B	Q14865	p.Pro232Leu	rs1164294509	missense variant	-	NC_000010.11:g.62000283C>T	gnomAD
ARID5B	Q14865	p.Thr233Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62000286C>A	NCI-TCGA
ARID5B	Q14865	p.Ile235Thr	rs1016216781	missense variant	-	NC_000010.11:g.62000292T>C	TOPMed
ARID5B	Q14865	p.Ile235Leu	rs201273744	missense variant	-	NC_000010.11:g.62000291A>T	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Glu238Lys	rs963038555	missense variant	-	NC_000010.11:g.62000300G>A	gnomAD
ARID5B	Q14865	p.Glu238Lys	rs963038555	missense variant	-	NC_000010.11:g.62000300G>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser239Gly	COSM4930939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62000303A>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser239Arg	rs758871463	missense variant	-	NC_000010.11:g.62000305T>G	ExAC,gnomAD
ARID5B	Q14865	p.Ile240Val	rs1286274022	missense variant	-	NC_000010.11:g.62000306A>G	gnomAD
ARID5B	Q14865	p.Asp242Asn	rs751880754	missense variant	-	NC_000010.11:g.62000312G>A	ExAC,gnomAD
ARID5B	Q14865	p.Asn247His	COSM919367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62050893A>C	NCI-TCGA Cosmic
ARID5B	Q14865	p.Asn247Asp	rs753041204	missense variant	-	NC_000010.11:g.62050893A>G	ExAC,gnomAD
ARID5B	Q14865	p.Leu248Phe	COSM4845793	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62050896C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Gly250Val	rs918933657	missense variant	-	NC_000010.11:g.62050903G>T	TOPMed
ARID5B	Q14865	p.Pro252Leu	rs1460224385	missense variant	-	NC_000010.11:g.62050909C>T	gnomAD
ARID5B	Q14865	p.Arg253Cys	COSM3782547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62050911C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg253His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62050912G>A	NCI-TCGA
ARID5B	Q14865	p.Lys255Asn	rs1464829578	missense variant	-	NC_000010.11:g.62050919G>T	gnomAD
ARID5B	Q14865	p.Lys256Thr	rs1389404891	missense variant	-	NC_000010.11:g.62050921A>C	TOPMed
ARID5B	Q14865	p.Pro257Gln	rs1427315274	missense variant	-	NC_000010.11:g.62050924C>A	gnomAD
ARID5B	Q14865	p.Cys258Tyr	rs780084801	missense variant	-	NC_000010.11:g.62050927G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Cys258Gly	rs146939872	missense variant	-	NC_000010.11:g.62050926T>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro259Ser	rs746932853	missense variant	-	NC_000010.11:g.62050929C>T	ExAC,gnomAD
ARID5B	Q14865	p.Gln260His	rs927711471	missense variant	-	NC_000010.11:g.62050934A>C	TOPMed
ARID5B	Q14865	p.Arg261Ile	COSM6130255	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62050936G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg262Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62050939G>A	NCI-TCGA
ARID5B	Q14865	p.Asp263Val	rs768544889	missense variant	-	NC_000010.11:g.62050942A>T	ExAC,gnomAD
ARID5B	Q14865	p.Asp263Gly	rs768544889	missense variant	-	NC_000010.11:g.62050942A>G	ExAC,gnomAD
ARID5B	Q14865	p.Ser264Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.62050945C>A	NCI-TCGA
ARID5B	Q14865	p.Ser266Gly	rs776458295	missense variant	-	NC_000010.11:g.62050950A>G	ExAC,gnomAD
ARID5B	Q14865	p.Ser266Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62050950A>T	NCI-TCGA
ARID5B	Q14865	p.Gly267Asp	rs1161419516	missense variant	-	NC_000010.11:g.62050954G>A	TOPMed
ARID5B	Q14865	p.Gly267Ser	rs138196909	missense variant	-	NC_000010.11:g.62050953G>A	ESP
ARID5B	Q14865	p.Val268Ile	rs1294819188	missense variant	-	NC_000010.11:g.62050956G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Lys269Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62050961G>T	NCI-TCGA
ARID5B	Q14865	p.Ser271Cys	rs769439880	missense variant	-	NC_000010.11:g.62050966C>G	ExAC
ARID5B	Q14865	p.Asn274Ser	rs762391579	missense variant	-	NC_000010.11:g.62050975A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asp276Tyr	rs201704836	missense variant	-	NC_000010.11:g.62050980G>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asp276Asn	rs201704836	missense variant	-	NC_000010.11:g.62050980G>A	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asp276Glu	rs1213978548	missense variant	-	NC_000010.11:g.62050982T>A	gnomAD
ARID5B	Q14865	p.Asp276Asn	rs201704836	missense variant	-	NC_000010.11:g.62050980G>A	NCI-TCGA
ARID5B	Q14865	p.Gly277Asp	rs760053508	missense variant	-	NC_000010.11:g.62050984G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly277Val	rs760053508	missense variant	-	NC_000010.11:g.62050984G>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val280Ile	rs143185576	missense variant	-	NC_000010.11:g.62050992G>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val280Leu	rs143185576	missense variant	-	NC_000010.11:g.62050992G>C	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val280Ala	rs764348201	missense variant	-	NC_000010.11:g.62050993T>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val283Leu	rs539001526	missense variant	-	NC_000010.11:g.62057117G>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys284Glu	rs1229321841	missense variant	-	NC_000010.11:g.62057120A>G	gnomAD
ARID5B	Q14865	p.Ala290Thr	rs1432454262	missense variant	-	NC_000010.11:g.62057138G>A	TOPMed
ARID5B	Q14865	p.Leu291Phe	rs751699693	missense variant	-	NC_000010.11:g.62057143G>T	ExAC
ARID5B	Q14865	p.Pro294Leu	rs756022924	missense variant	-	NC_000010.11:g.62057151C>T	ExAC,gnomAD
ARID5B	Q14865	p.Lys295Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62057155G>T	NCI-TCGA
ARID5B	Q14865	p.Lys295Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62057155G>C	NCI-TCGA
ARID5B	Q14865	p.His298Tyr	rs757046793	missense variant	-	NC_000010.11:g.62057162C>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His298Arg	rs1207007361	missense variant	-	NC_000010.11:g.62057163A>G	TOPMed
ARID5B	Q14865	p.Lys301Glu	rs199741541	missense variant	-	NC_000010.11:g.62057171A>G	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val303Asp	rs771828291	missense variant	-	NC_000010.11:g.62057178T>A	ExAC,gnomAD
ARID5B	Q14865	p.Ser304Ala	rs1284254136	missense variant	-	NC_000010.11:g.62057180T>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser304Ala	rs1284254136	missense variant	-	NC_000010.11:g.62057180T>G	TOPMed
ARID5B	Q14865	p.Asn305Ser	rs1237314520	missense variant	-	NC_000010.11:g.62057184A>G	gnomAD
ARID5B	Q14865	p.Ala312Asp	rs779403852	missense variant	-	NC_000010.11:g.62057205C>A	ExAC,gnomAD
ARID5B	Q14865	p.Ala312Gly	rs779403852	missense variant	-	NC_000010.11:g.62057205C>G	ExAC,gnomAD
ARID5B	Q14865	p.Ala312Ser	rs1426332952	missense variant	-	NC_000010.11:g.62057204G>T	gnomAD
ARID5B	Q14865	p.Ile313Thr	rs1335141232	missense variant	-	NC_000010.11:g.62057208T>C	gnomAD
ARID5B	Q14865	p.Gly314Asp	rs1329917328	missense variant	-	NC_000010.11:g.62057211G>A	TOPMed
ARID5B	Q14865	p.Glu316Asp	COSM919370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62057218G>C	NCI-TCGA Cosmic
ARID5B	Q14865	p.Cys317Arg	rs746567135	missense variant	-	NC_000010.11:g.62057219T>C	ExAC,gnomAD
ARID5B	Q14865	p.Gln322Lys	rs1383454029	missense variant	-	NC_000010.11:g.62057234C>A	TOPMed
ARID5B	Q14865	p.Leu325Phe	rs770268976	missense variant	-	NC_000010.11:g.62057245G>T	ExAC,gnomAD
ARID5B	Q14865	p.Ala327Glu	rs1319495347	missense variant	-	NC_000010.11:g.62057250C>A	TOPMed
ARID5B	Q14865	p.Ala327Thr	rs1365260841	missense variant	-	NC_000010.11:g.62057249G>A	TOPMed
ARID5B	Q14865	p.Met332Thr	COSM4927662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62057265T>C	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg335Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62057274G>A	NCI-TCGA
ARID5B	Q14865	p.Thr337Met	rs1269760932	missense variant	-	NC_000010.11:g.62057280C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Thr337Met	rs1269760932	missense variant	-	NC_000010.11:g.62057280C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Pro338Gln	rs1262932042	missense variant	-	NC_000010.11:g.62057283C>A	TOPMed,gnomAD
ARID5B	Q14865	p.Ile339Val	COSM256346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62057285A>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Glu340Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.62057288G>T	NCI-TCGA
ARID5B	Q14865	p.Tyr344Ser	rs763950577	missense variant	-	NC_000010.11:g.62057301A>C	ExAC,gnomAD
ARID5B	Q14865	p.Lys348Arg	rs753784702	missense variant	-	NC_000010.11:g.62057313A>G	ExAC,gnomAD
ARID5B	Q14865	p.Asn351Tyr	COSM3439484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62059245A>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Gly363Glu	rs1209980300	missense variant	-	NC_000010.11:g.62059282G>A	gnomAD
ARID5B	Q14865	p.Glu366Gly	rs1288506020	missense variant	-	NC_000010.11:g.62059291A>G	gnomAD
ARID5B	Q14865	p.Arg371His	rs1206856276	missense variant	-	NC_000010.11:g.62069710G>A	gnomAD
ARID5B	Q14865	p.Arg371Cys	rs1001964542	missense variant	-	NC_000010.11:g.62069709C>T	gnomAD
ARID5B	Q14865	p.Arg372Cys	rs1274987213	missense variant	-	NC_000010.11:g.62069712C>T	gnomAD
ARID5B	Q14865	p.Arg372Cys	rs1274987213	missense variant	-	NC_000010.11:g.62069712C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg372His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62069713G>A	NCI-TCGA
ARID5B	Q14865	p.Gln373Glu	rs569211514	missense variant	-	NC_000010.11:g.62069715C>G	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Glu380Ter	COSM919372	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62069736G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Gly382Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62069743G>A	NCI-TCGA
ARID5B	Q14865	p.Gly383Ser	rs529464997	missense variant	-	NC_000010.11:g.62069745G>A	ExAC,gnomAD
ARID5B	Q14865	p.Ser387Gly	rs1170562366	missense variant	-	NC_000010.11:g.62069757A>G	gnomAD
ARID5B	Q14865	p.Ser387Gly	rs1170562366	missense variant	-	NC_000010.11:g.62069757A>G	NCI-TCGA
ARID5B	Q14865	p.Ala390Pro	rs756529242	missense variant	-	NC_000010.11:g.62069766G>C	ExAC,gnomAD
ARID5B	Q14865	p.Arg395His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62069782G>A	NCI-TCGA
ARID5B	Q14865	p.His397Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62069788A>G	NCI-TCGA
ARID5B	Q14865	p.Tyr398Cys	COSM414991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62069791A>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ile402Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62085707T>A	NCI-TCGA
ARID5B	Q14865	p.Pro418His	rs1262889155	missense variant	-	NC_000010.11:g.62085755C>A	gnomAD
ARID5B	Q14865	p.Ile420Val	rs1187049639	missense variant	-	NC_000010.11:g.62085760A>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ile420Val	rs1187049639	missense variant	-	NC_000010.11:g.62085760A>G	TOPMed
ARID5B	Q14865	p.Pro422Ala	rs1322089786	missense variant	-	NC_000010.11:g.62085766C>G	gnomAD
ARID5B	Q14865	p.Pro422His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62085767C>A	NCI-TCGA
ARID5B	Q14865	p.Arg423Trp	rs993996582	missense variant	-	NC_000010.11:g.62085769C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Arg423Gln	rs771981107	missense variant	-	NC_000010.11:g.62085770G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Arg423GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62085769C>-	NCI-TCGA
ARID5B	Q14865	p.Lys424AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62085772A>-	NCI-TCGA
ARID5B	Q14865	p.Ser428ValPheSerTerUnkUnk	COSM919374	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085784A>-	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser428Gly	rs780286785	missense variant	-	NC_000010.11:g.62085784A>G	ExAC,gnomAD
ARID5B	Q14865	p.Ser428Arg	rs146085530	missense variant	-	NC_000010.11:g.62085786T>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gln430ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62085791A>-	NCI-TCGA
ARID5B	Q14865	p.Asn432MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62085794A>-	NCI-TCGA
ARID5B	Q14865	p.Asn432Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62085797A>C	NCI-TCGA
ARID5B	Q14865	p.Glu433Asp	rs768796045	missense variant	-	NC_000010.11:g.62085801G>C	ExAC,gnomAD
ARID5B	Q14865	p.Gly440Ala	rs925557862	missense variant	-	NC_000010.11:g.62085821G>C	TOPMed
ARID5B	Q14865	p.Thr441Asn	rs140096631	missense variant	-	NC_000010.11:g.62085824C>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Thr441Ile	rs140096631	missense variant	-	NC_000010.11:g.62085824C>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys442AsnPheSerTerUnkUnk	COSM919375	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085826A>-	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg443Cys	rs774238244	missense variant	-	NC_000010.11:g.62085829C>T	ExAC,gnomAD
ARID5B	Q14865	p.Arg443Leu	rs759435915	missense variant	-	NC_000010.11:g.62085830G>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Arg443His	rs759435915	missense variant	-	NC_000010.11:g.62085830G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ile444Thr	rs1353076977	missense variant	-	NC_000010.11:g.62085833T>C	TOPMed
ARID5B	Q14865	p.Ile444Val	rs141951633	missense variant	-	NC_000010.11:g.62085832A>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys445LeuPheSerTerUnkUnk	COSM919378	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085834_62085846CAAACATGAAATA>-	NCI-TCGA Cosmic
ARID5B	Q14865	p.His446AlaPheSerTerUnkUnk	COSM919377	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085833_62085848TCAAACATGAAATACC>-	NCI-TCGA Cosmic
ARID5B	Q14865	p.His446GlnPheSerTerUnkUnk	COSM919376	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085831_62085832insATCAAACA	NCI-TCGA Cosmic
ARID5B	Q14865	p.His446Tyr	rs141586900	missense variant	-	NC_000010.11:g.62085838C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His446Arg	rs760299705	missense variant	-	NC_000010.11:g.62085839A>G	ExAC,gnomAD
ARID5B	Q14865	p.Ile448Thr	rs1409997584	missense variant	-	NC_000010.11:g.62085845T>C	TOPMed
ARID5B	Q14865	p.Ile448Met	rs1285653221	missense variant	-	NC_000010.11:g.62085846A>G	gnomAD
ARID5B	Q14865	p.Pro449Ser	rs370282102	missense variant	-	NC_000010.11:g.62085847C>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser451Asn	rs1352309345	missense variant	-	NC_000010.11:g.62085854G>A	gnomAD
ARID5B	Q14865	p.Lys452Asn	rs1213791416	missense variant	-	NC_000010.11:g.62085858G>T	gnomAD
ARID5B	Q14865	p.Lys453Gln	rs1267266872	missense variant	-	NC_000010.11:g.62085859A>C	gnomAD
ARID5B	Q14865	p.Glu454Ter	COSM919380	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085862G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Glu454Gly	rs988588958	missense variant	-	NC_000010.11:g.62085863A>G	TOPMed,gnomAD
ARID5B	Q14865	p.Glu454Lys	rs757763429	missense variant	-	NC_000010.11:g.62085862G>A	NCI-TCGA
ARID5B	Q14865	p.Glu454Lys	rs757763429	missense variant	-	NC_000010.11:g.62085862G>A	ExAC,gnomAD
ARID5B	Q14865	p.Glu456Ter	COSM4838761	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085868G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Glu456LysPheSerTerUnkUnk	COSM919379	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62085858_62085859insAAAGA	NCI-TCGA Cosmic
ARID5B	Q14865	p.Glu456Gln	rs1198909219	missense variant	-	NC_000010.11:g.62085868G>C	gnomAD
ARID5B	Q14865	p.Glu456MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62085865_62085868AAAG>-	NCI-TCGA
ARID5B	Q14865	p.Asn457Tyr	rs1266527085	missense variant	-	NC_000010.11:g.62085871A>T	gnomAD
ARID5B	Q14865	p.Asn457Ser	rs779422998	missense variant	-	NC_000010.11:g.62085872A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asn457MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62085869A>-	NCI-TCGA
ARID5B	Q14865	p.Pro459GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62085875C>-	NCI-TCGA
ARID5B	Q14865	p.Pro461Ser	COSM1561272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62085883C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ala464Val	rs750749732	missense variant	-	NC_000010.11:g.62085893C>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ala465Ser	rs780193092	missense variant	-	NC_000010.11:g.62085895G>T	ExAC,gnomAD
ARID5B	Q14865	p.Glu466Lys	rs1474170939	missense variant	-	NC_000010.11:g.62085898G>A	TOPMed
ARID5B	Q14865	p.Ser468Pro	rs1410164367	missense variant	-	NC_000010.11:g.62090865T>C	gnomAD
ARID5B	Q14865	p.Ser468Leu	rs1426993023	missense variant	-	NC_000010.11:g.62090866C>T	TOPMed
ARID5B	Q14865	p.Glu474Val	rs1329998518	missense variant	-	NC_000010.11:g.62090884A>T	gnomAD
ARID5B	Q14865	p.Glu474Asp	rs781300442	missense variant	-	NC_000010.11:g.62090885A>C	ExAC,gnomAD
ARID5B	Q14865	p.Glu474Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.62090883G>T	NCI-TCGA
ARID5B	Q14865	p.Glu476Lys	rs1050761731	missense variant	-	NC_000010.11:g.62090889G>A	TOPMed
ARID5B	Q14865	p.Glu476Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62090891G>T	NCI-TCGA
ARID5B	Q14865	p.Thr477Ile	rs1305050148	missense variant	-	NC_000010.11:g.62090893C>T	gnomAD
ARID5B	Q14865	p.Thr477Ser	rs912069856	missense variant	-	NC_000010.11:g.62090892A>T	TOPMed
ARID5B	Q14865	p.Ser480Thr	rs41274054	missense variant	-	NC_000010.11:g.62090902G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser480Asn	rs41274054	missense variant	-	NC_000010.11:g.62090902G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser483Ile	rs1183443990	missense variant	-	NC_000010.11:g.62090911G>T	TOPMed
ARID5B	Q14865	p.Pro485Ala	rs745793211	missense variant	-	NC_000010.11:g.62090916C>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro485Leu	rs1294917292	missense variant	-	NC_000010.11:g.62090917C>T	gnomAD
ARID5B	Q14865	p.Pro487His	rs566668263	missense variant	-	NC_000010.11:g.62090923C>A	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro487Leu	rs566668263	missense variant	-	NC_000010.11:g.62090923C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu488Phe	COSM3439486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62090925C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Pro489Ser	rs1215333084	missense variant	-	NC_000010.11:g.62090928C>T	gnomAD
ARID5B	Q14865	p.Ala491Val	rs1305479241	missense variant	-	NC_000010.11:g.62090935C>T	gnomAD
ARID5B	Q14865	p.Asp492Glu	rs1208948143	missense variant	-	NC_000010.11:g.62090939C>A	TOPMed
ARID5B	Q14865	p.Met493Lys	rs768317898	missense variant	-	NC_000010.11:g.62090941T>A	ExAC,gnomAD
ARID5B	Q14865	p.Lys494Asn	rs1460795394	missense variant	-	NC_000010.11:g.62090945G>T	gnomAD
ARID5B	Q14865	p.Lys494ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62090935_62090936insAGACATG	NCI-TCGA
ARID5B	Q14865	p.Lys495Glu	rs1181272872	missense variant	-	NC_000010.11:g.62090946A>G	gnomAD
ARID5B	Q14865	p.Ile497Thr	rs1249294114	missense variant	-	NC_000010.11:g.62090953T>C	TOPMed,gnomAD
ARID5B	Q14865	p.Ile497Ter	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62090946A>-	NCI-TCGA
ARID5B	Q14865	p.Ile497LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62090953T>-	NCI-TCGA
ARID5B	Q14865	p.Ile497AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62090945_62090946insA	NCI-TCGA
ARID5B	Q14865	p.Glu498Val	COSM69717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62090956A>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Glu498Ter	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62090951_62090952insAT	NCI-TCGA
ARID5B	Q14865	p.Gly499Arg	rs139520430	missense variant	-	NC_000010.11:g.62090958G>C	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly499Glu	rs761256488	missense variant	-	NC_000010.11:g.62090959G>A	ExAC,gnomAD
ARID5B	Q14865	p.Tyr500Cys	rs1252045617	missense variant	-	NC_000010.11:g.62090962A>G	TOPMed,gnomAD
ARID5B	Q14865	p.Ala505Val	rs149466999	missense variant	-	NC_000010.11:g.62090977C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys506Glu	rs1385453183	missense variant	-	NC_000010.11:g.62090979A>G	TOPMed
ARID5B	Q14865	p.Pro507Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62090982C>T	NCI-TCGA
ARID5B	Q14865	p.Arg511Ter	COSM4916429	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62090994A>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg511SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62090994_62090995AG>-	NCI-TCGA
ARID5B	Q14865	p.Val512Gly	rs751911768	missense variant	-	NC_000010.11:g.62090998T>G	ExAC,gnomAD
ARID5B	Q14865	p.Val512GluPheSerTerUnkUnk	COSM919382	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62090992_62091002CCAGAGTAGAC>-	NCI-TCGA Cosmic
ARID5B	Q14865	p.Val512Ile	rs200787076	missense variant	-	NC_000010.11:g.62090997G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro514Thr	COSM6130253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091003C>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Pro514Ser	rs555707909	missense variant	-	NC_000010.11:g.62091003C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asp517Gly	rs1454640587	missense variant	-	NC_000010.11:g.62091013A>G	gnomAD
ARID5B	Q14865	p.Glu519Lys	rs374377066	missense variant	-	NC_000010.11:g.62091018G>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu519Lys	rs374377066	missense variant	-	NC_000010.11:g.62091018G>A	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Thr520Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091022C>A	NCI-TCGA
ARID5B	Q14865	p.Thr520Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091021A>G	NCI-TCGA
ARID5B	Q14865	p.Asp521Glu	rs1269895188	missense variant	-	NC_000010.11:g.62091026C>G	gnomAD
ARID5B	Q14865	p.Gln522Ter	COSM919384	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091027C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Gly523Val	rs1337695432	missense variant	-	NC_000010.11:g.62091031G>T	gnomAD
ARID5B	Q14865	p.Ser524Cys	rs537465187	missense variant	-	NC_000010.11:g.62091034C>G	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Ser524Phe	rs537465187	missense variant	-	NC_000010.11:g.62091034C>T	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Ser524Phe	rs537465187	missense variant	-	NC_000010.11:g.62091034C>T	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Lys528Glu	rs1417332918	missense variant	-	NC_000010.11:g.62091045A>G	gnomAD
ARID5B	Q14865	p.Ala530Val	rs1322761667	missense variant	-	NC_000010.11:g.62091052C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Glu531Lys	rs779891226	missense variant	-	NC_000010.11:g.62091054G>A	ExAC,gnomAD
ARID5B	Q14865	p.Glu531Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091054G>C	NCI-TCGA
ARID5B	Q14865	p.Glu532Ter	COSM6066703	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091057G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ala533Thr	rs1191829426	missense variant	-	NC_000010.11:g.62091060G>A	gnomAD
ARID5B	Q14865	p.Ala533Val	rs746755575	missense variant	-	NC_000010.11:g.62091061C>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly537Arg	rs1049293397	missense variant	-	NC_000010.11:g.62091072G>C	TOPMed
ARID5B	Q14865	p.Gly537Glu	rs148762493	missense variant	-	NC_000010.11:g.62091073G>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly537Ala	rs148762493	missense variant	-	NC_000010.11:g.62091073G>C	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro540Leu	rs747795902	missense variant	-	NC_000010.11:g.62091082C>T	ExAC,gnomAD
ARID5B	Q14865	p.Pro540Arg	rs747795902	missense variant	-	NC_000010.11:g.62091082C>G	ExAC,gnomAD
ARID5B	Q14865	p.Pro541Ser	rs1174816191	missense variant	-	NC_000010.11:g.62091084C>T	gnomAD
ARID5B	Q14865	p.Leu542ProPheSerTerUnkUnk	COSM919385	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091085_62091086CA>-	NCI-TCGA Cosmic
ARID5B	Q14865	p.Leu542Ile	rs772658120	missense variant	-	NC_000010.11:g.62091087C>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu542Pro	rs200031871	missense variant	-	NC_000010.11:g.62091088T>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro543Ala	rs1317694270	missense variant	-	NC_000010.11:g.62091090C>G	TOPMed,gnomAD
ARID5B	Q14865	p.Pro543Ser	rs1317694270	missense variant	-	NC_000010.11:g.62091090C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Pro543Gln	rs1231598137	missense variant	-	NC_000010.11:g.62091091C>A	TOPMed
ARID5B	Q14865	p.Ser544Asn	rs1324959279	missense variant	-	NC_000010.11:g.62091094G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Ser544Ile	rs1324959279	missense variant	-	NC_000010.11:g.62091094G>T	TOPMed,gnomAD
ARID5B	Q14865	p.Ser544Gly	rs1328589418	missense variant	-	NC_000010.11:g.62091093A>G	TOPMed
ARID5B	Q14865	p.Pro546Leu	rs1387003279	missense variant	-	NC_000010.11:g.62091100C>T	TOPMed
ARID5B	Q14865	p.Pro546Ser	rs971439856	missense variant	-	NC_000010.11:g.62091099C>T	TOPMed
ARID5B	Q14865	p.Leu547Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091102C>G	NCI-TCGA
ARID5B	Q14865	p.Glu550Ter	COSM919386	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091111G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Glu550Gly	rs1318032963	missense variant	-	NC_000010.11:g.62091112A>G	TOPMed
ARID5B	Q14865	p.Lys551Arg	rs771401194	missense variant	-	NC_000010.11:g.62091115A>G	ExAC,gnomAD
ARID5B	Q14865	p.Lys551Ile	rs771401194	missense variant	-	NC_000010.11:g.62091115A>T	ExAC,gnomAD
ARID5B	Q14865	p.Ser553Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.62091121C>G	NCI-TCGA
ARID5B	Q14865	p.Leu555Phe	rs774734058	missense variant	-	NC_000010.11:g.62091128G>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val556Asp	rs760147233	missense variant	-	NC_000010.11:g.62091130T>A	ExAC,gnomAD
ARID5B	Q14865	p.Ala559Asp	rs1429613954	missense variant	-	NC_000010.11:g.62091139C>A	TOPMed
ARID5B	Q14865	p.Ser560GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62091138_62091139insC	NCI-TCGA
ARID5B	Q14865	p.Thr565Ile	COSM3790870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091157C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser568Thr	rs201106060	missense variant	-	NC_000010.11:g.62091166G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ala569Val	rs370284541	missense variant	-	NC_000010.11:g.62091169C>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu570Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091171C>A	NCI-TCGA
ARID5B	Q14865	p.Val571Glu	rs760955271	missense variant	-	NC_000010.11:g.62091175T>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asp572Asn	rs1397207881	missense variant	-	NC_000010.11:g.62091177G>A	gnomAD
ARID5B	Q14865	p.Gln575Arg	rs753930933	missense variant	-	NC_000010.11:g.62091187A>G	ExAC,gnomAD
ARID5B	Q14865	p.Glu576Ter	COSM1245469	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091189G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser577Phe	COSM3439491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091193C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Lys578Ile	rs142418662	missense variant	-	NC_000010.11:g.62091196A>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys578Arg	rs142418662	missense variant	-	NC_000010.11:g.62091196A>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu579Pro	rs779984640	missense variant	-	NC_000010.11:g.62091199T>C	ExAC,gnomAD
ARID5B	Q14865	p.Cys581Ser	rs755012949	missense variant	-	NC_000010.11:g.62091205G>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Cys581Arg	rs1158094414	missense variant	-	NC_000010.11:g.62091204T>C	gnomAD
ARID5B	Q14865	p.Cys581Tyr	rs755012949	missense variant	-	NC_000010.11:g.62091205G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu584Gln	rs1426793103	missense variant	-	NC_000010.11:g.62091213G>C	gnomAD
ARID5B	Q14865	p.Ser585Arg	rs577699742	missense variant	-	NC_000010.11:g.62091218C>A	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Pro586Leu	COSM4895953	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091220C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser588Arg	rs1360498816	missense variant	-	NC_000010.11:g.62091227T>G	gnomAD
ARID5B	Q14865	p.Ser588Gly	rs747988567	missense variant	-	NC_000010.11:g.62091225A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro590Ser	rs769394319	missense variant	-	NC_000010.11:g.62091231C>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gln591Ter	rs1198969767	stop gained	-	NC_000010.11:g.62091234C>T	TOPMed
ARID5B	Q14865	p.Pro596Leu	COSM3439493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091250C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Pro596His	rs748734611	missense variant	-	NC_000010.11:g.62091250C>A	ExAC,gnomAD
ARID5B	Q14865	p.Ser597AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62091248C>-	NCI-TCGA
ARID5B	Q14865	p.Phe598Leu	rs1363718766	missense variant	-	NC_000010.11:g.62091257C>A	TOPMed
ARID5B	Q14865	p.Phe598Ser	rs773977577	missense variant	-	NC_000010.11:g.62091256T>C	ExAC,gnomAD
ARID5B	Q14865	p.Pro599Leu	rs759927800	missense variant	-	NC_000010.11:g.62091259C>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro599Ala	rs1317749926	missense variant	-	NC_000010.11:g.62091258C>G	TOPMed
ARID5B	Q14865	p.Gln602His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091269G>T	NCI-TCGA
ARID5B	Q14865	p.Pro604Leu	rs202205668	missense variant	-	NC_000010.11:g.62091274C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ala606Glu	rs1362151707	missense variant	-	NC_000010.11:g.62091280C>A	gnomAD
ARID5B	Q14865	p.Asn607Lys	rs1169060487	missense variant	-	NC_000010.11:g.62091284C>G	TOPMed
ARID5B	Q14865	p.Asn607Ile	rs764346224	missense variant	-	NC_000010.11:g.62091283A>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asn607Ser	rs764346224	missense variant	-	NC_000010.11:g.62091283A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Thr611Met	rs117757404	missense variant	-	NC_000010.11:g.62091295C>T	1000Genomes,ESP,TOPMed
ARID5B	Q14865	p.Asp613Asn	rs762157955	missense variant	-	NC_000010.11:g.62091300G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asp614Tyr	rs1422950738	missense variant	-	NC_000010.11:g.62091303G>T	gnomAD
ARID5B	Q14865	p.Ala618Thr	rs143074852	missense variant	-	NC_000010.11:g.62091315G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Met619Lys	rs781136944	missense variant	-	NC_000010.11:g.62091319T>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Met619Thr	rs781136944	missense variant	-	NC_000010.11:g.62091319T>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Met619Val	rs754851401	missense variant	-	NC_000010.11:g.62091318A>G	ExAC,gnomAD
ARID5B	Q14865	p.Tyr622Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091327T>G	NCI-TCGA
ARID5B	Q14865	p.Ile623Val	rs1452811831	missense variant	-	NC_000010.11:g.62091330A>G	gnomAD
ARID5B	Q14865	p.Val628Met	rs148232588	missense variant	-	NC_000010.11:g.62091345G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys629Asn	COSM919388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091350G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Lys629Thr	rs1229112171	missense variant	-	NC_000010.11:g.62091349A>C	TOPMed,gnomAD
ARID5B	Q14865	p.Ser635Arg	rs1195576419	missense variant	-	NC_000010.11:g.62091366A>C	gnomAD
ARID5B	Q14865	p.Ser635Thr	rs1249119567	missense variant	-	NC_000010.11:g.62091367G>C	gnomAD
ARID5B	Q14865	p.Asp637Tyr	rs778262915	missense variant	-	NC_000010.11:g.62091372G>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asp637Asn	rs778262915	missense variant	-	NC_000010.11:g.62091372G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asn640Ser	rs150157555	missense variant	-	NC_000010.11:g.62091382A>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ala641Thr	COSM1348520	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091384G>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ala641Val	rs772420176	missense variant	-	NC_000010.11:g.62091385C>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Thr645Ile	rs747321081	missense variant	-	NC_000010.11:g.62091397C>T	ExAC,gnomAD
ARID5B	Q14865	p.Leu649Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091408C>T	NCI-TCGA
ARID5B	Q14865	p.Gln652His	rs1408278304	missense variant	-	NC_000010.11:g.62091419G>C	gnomAD
ARID5B	Q14865	p.Ser653Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091421C>T	NCI-TCGA
ARID5B	Q14865	p.Phe654Leu	rs761913705	missense variant	-	NC_000010.11:g.62091425T>A	ExAC,gnomAD
ARID5B	Q14865	p.Phe657Tyr	COSM919389	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091433T>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Asp659Asn	rs1405883740	missense variant	-	NC_000010.11:g.62091438G>A	TOPMed
ARID5B	Q14865	p.Asp661Glu	rs763096135	missense variant	-	NC_000010.11:g.62091446C>A	ExAC,gnomAD
ARID5B	Q14865	p.Gly664Glu	rs767381955	missense variant	-	NC_000010.11:g.62091454G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly664Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091454G>T	NCI-TCGA
ARID5B	Q14865	p.Asn667His	COSM465827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091462A>C	NCI-TCGA Cosmic
ARID5B	Q14865	p.Asn667Ile	rs1326309906	missense variant	-	NC_000010.11:g.62091463A>T	gnomAD
ARID5B	Q14865	p.Glu668Lys	rs1262593085	missense variant	-	NC_000010.11:g.62091465G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Glu668Lys	rs1262593085	missense variant	-	NC_000010.11:g.62091465G>A	NCI-TCGA
ARID5B	Q14865	p.His670Tyr	rs1271514044	missense variant	-	NC_000010.11:g.62091471C>T	TOPMed
ARID5B	Q14865	p.Leu672His	rs1223600151	missense variant	-	NC_000010.11:g.62091478T>A	TOPMed
ARID5B	Q14865	p.Leu672Phe	rs1188342486	missense variant	-	NC_000010.11:g.62091477C>T	gnomAD
ARID5B	Q14865	p.Thr675Met	rs141236035	missense variant	-	NC_000010.11:g.62091487C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Thr675Ala	rs1262770252	missense variant	-	NC_000010.11:g.62091486A>G	gnomAD
ARID5B	Q14865	p.Thr675Lys	rs141236035	missense variant	-	NC_000010.11:g.62091487C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu678Ile	COSM268709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091495C>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Leu678Pro	rs1418166275	missense variant	-	NC_000010.11:g.62091496T>C	gnomAD
ARID5B	Q14865	p.Leu678Phe	rs371998179	missense variant	-	NC_000010.11:g.62091495C>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Tyr679Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091499A>G	NCI-TCGA
ARID5B	Q14865	p.Ser680Phe	rs757997426	missense variant	-	NC_000010.11:g.62091502C>T	ExAC,gnomAD
ARID5B	Q14865	p.Asn683Thr	rs145498621	missense variant	-	NC_000010.11:g.62091511A>C	ExAC
ARID5B	Q14865	p.Met687Val	COSM4015028	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091522A>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser688Pro	COSM4915047	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091525T>C	NCI-TCGA Cosmic
ARID5B	Q14865	p.Leu695Val	rs138864995	missense variant	-	NC_000010.11:g.62091546C>G	gnomAD
ARID5B	Q14865	p.Leu695Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091547T>C	NCI-TCGA
ARID5B	Q14865	p.Ser697Pro	COSM1348522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091552T>C	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser700Arg	rs747517577	missense variant	-	NC_000010.11:g.62091563T>G	ExAC,gnomAD
ARID5B	Q14865	p.Ala702Pro	rs776841458	missense variant	-	NC_000010.11:g.62091567G>C	ExAC,gnomAD
ARID5B	Q14865	p.Ala702Val	rs1276732650	missense variant	-	NC_000010.11:g.62091568C>T	gnomAD
ARID5B	Q14865	p.Ala702Asp	rs1276732650	missense variant	-	NC_000010.11:g.62091568C>A	gnomAD
ARID5B	Q14865	p.Ser703Gly	rs1318095895	missense variant	-	NC_000010.11:g.62091570A>G	gnomAD
ARID5B	Q14865	p.Ser703Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091571G>T	NCI-TCGA
ARID5B	Q14865	p.Ser705Tyr	rs769838092	missense variant	-	NC_000010.11:g.62091577C>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro709Leu	rs183477532	missense variant	-	NC_000010.11:g.62091589C>T	1000Genomes
ARID5B	Q14865	p.Pro709Ser	rs1310948086	missense variant	-	NC_000010.11:g.62091588C>T	gnomAD
ARID5B	Q14865	p.Pro713Leu	rs1218083945	missense variant	-	NC_000010.11:g.62091601C>T	gnomAD
ARID5B	Q14865	p.Pro714Ser	rs1485685267	missense variant	-	NC_000010.11:g.62091603C>T	gnomAD
ARID5B	Q14865	p.Pro715Ser	rs141997585	missense variant	-	NC_000010.11:g.62091606C>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro715Ala	rs141997585	missense variant	-	NC_000010.11:g.62091606C>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro715Thr	rs141997585	missense variant	-	NC_000010.11:g.62091606C>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu716Phe	rs757082098	missense variant	-	NC_000010.11:g.62091611G>T	ExAC
ARID5B	Q14865	p.Ile717Phe	rs764739348	missense variant	-	NC_000010.11:g.62091612A>T	ExAC,gnomAD
ARID5B	Q14865	p.Ile717Val	rs764739348	missense variant	-	NC_000010.11:g.62091612A>G	ExAC,gnomAD
ARID5B	Q14865	p.Ile717Val	rs764739348	missense variant	-	NC_000010.11:g.62091612A>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ala724Ser	rs779683944	missense variant	-	NC_000010.11:g.62091633G>T	ExAC,gnomAD
ARID5B	Q14865	p.Arg725Ser	COSM1474696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091638G>C	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg725Thr	rs751168331	missense variant	-	NC_000010.11:g.62091637G>C	ExAC,gnomAD
ARID5B	Q14865	p.Asp726Glu	rs146336312	missense variant	-	NC_000010.11:g.62091641T>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asp727Asn	rs986410430	missense variant	-	NC_000010.11:g.62091642G>A	TOPMed
ARID5B	Q14865	p.Leu728Phe	rs781739297	missense variant	-	NC_000010.11:g.62091647G>C	ExAC,gnomAD
ARID5B	Q14865	p.Ser730Cys	rs748401789	missense variant	-	NC_000010.11:g.62091652C>G	ExAC
ARID5B	Q14865	p.Ser731Thr	rs1304519097	missense variant	-	NC_000010.11:g.62091655G>C	gnomAD
ARID5B	Q14865	p.Gln734Glu	rs770178655	missense variant	-	NC_000010.11:g.62091663C>G	ExAC,gnomAD
ARID5B	Q14865	p.Gly738Ser	rs963756003	missense variant	-	NC_000010.11:g.62091675G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Thr741Ala	rs1488348953	missense variant	-	NC_000010.11:g.62091684A>G	TOPMed
ARID5B	Q14865	p.Asp742Glu	rs749477102	missense variant	-	NC_000010.11:g.62091689C>A	ExAC,gnomAD
ARID5B	Q14865	p.Met744Arg	COSM919390	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091694T>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Met744Thr	rs141852562	missense variant	-	NC_000010.11:g.62091694T>C	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Met744Val	rs1307807670	missense variant	-	NC_000010.11:g.62091693A>G	gnomAD
ARID5B	Q14865	p.Ala745Val	rs201542647	missense variant	-	NC_000010.11:g.62091697C>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser747Arg	rs1221532128	missense variant	-	NC_000010.11:g.62091704C>A	gnomAD
ARID5B	Q14865	p.Ser747Asn	rs1490566120	missense variant	-	NC_000010.11:g.62091703G>A	gnomAD
ARID5B	Q14865	p.Ser747Thr	rs1490566120	missense variant	-	NC_000010.11:g.62091703G>C	gnomAD
ARID5B	Q14865	p.Arg748Gln	rs1481593361	missense variant	-	NC_000010.11:g.62091706G>A	NCI-TCGA
ARID5B	Q14865	p.Arg748Gln	rs1481593361	missense variant	-	NC_000010.11:g.62091706G>A	gnomAD
ARID5B	Q14865	p.Arg748Trp	rs1244714524	missense variant	-	NC_000010.11:g.62091705C>T	TOPMed,gnomAD
ARID5B	Q14865	p.His754GlnPheSerTerUnkUnk	COSM919392	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091725C>-	NCI-TCGA Cosmic
ARID5B	Q14865	p.Val755Ile	rs750226503	missense variant	-	NC_000010.11:g.62091726G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val755Ile	rs750226503	missense variant	-	NC_000010.11:g.62091726G>A	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Gln756Arg	rs374187162	missense variant	-	NC_000010.11:g.62091730A>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gln756Pro	rs374187162	missense variant	-	NC_000010.11:g.62091730A>C	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser757Gly	rs1423576796	missense variant	-	NC_000010.11:g.62091732A>G	gnomAD
ARID5B	Q14865	p.Ser760Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091742G>T	NCI-TCGA
ARID5B	Q14865	p.Ser763Trp	rs766155061	missense variant	-	NC_000010.11:g.62091751C>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser763Leu	rs766155061	missense variant	-	NC_000010.11:g.62091751C>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu765Gly	rs1389205004	missense variant	-	NC_000010.11:g.62091757A>G	TOPMed
ARID5B	Q14865	p.Glu765Asp	rs1318622103	missense variant	-	NC_000010.11:g.62091758G>C	gnomAD
ARID5B	Q14865	p.Arg766Thr	rs1445010704	missense variant	-	NC_000010.11:g.62091760G>C	gnomAD
ARID5B	Q14865	p.Asn770Ser	rs1373243635	missense variant	-	NC_000010.11:g.62091772A>G	gnomAD
ARID5B	Q14865	p.Asn770Asp	rs907493579	missense variant	-	NC_000010.11:g.62091771A>G	TOPMed
ARID5B	Q14865	p.Asp771Gly	rs1444705688	missense variant	-	NC_000010.11:g.62091775A>G	gnomAD
ARID5B	Q14865	p.Lys774Arg	rs780621219	missense variant	-	NC_000010.11:g.62091784A>G	ExAC,gnomAD
ARID5B	Q14865	p.Ser779Arg	rs756615463	missense variant	-	NC_000010.11:g.62091800T>A	ExAC,gnomAD
ARID5B	Q14865	p.Ser779Gly	rs753239966	missense variant	-	NC_000010.11:g.62091798A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Arg780Ter	COSM4989976	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62091801C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg780Gly	rs140019989	missense variant	-	NC_000010.11:g.62091801C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Arg780Leu	rs567464868	missense variant	-	NC_000010.11:g.62091802G>T	1000Genomes,TOPMed,gnomAD
ARID5B	Q14865	p.Arg780Gln	rs567464868	missense variant	-	NC_000010.11:g.62091802G>A	1000Genomes,TOPMed,gnomAD
ARID5B	Q14865	p.Asp782Gly	rs1243162412	missense variant	-	NC_000010.11:g.62091808A>G	TOPMed,gnomAD
ARID5B	Q14865	p.Asp782Val	rs1243162412	missense variant	-	NC_000010.11:g.62091808A>T	TOPMed,gnomAD
ARID5B	Q14865	p.Pro783Leu	COSM3439501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091811C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.His784Tyr	rs749675398	missense variant	-	NC_000010.11:g.62091813C>T	ExAC,gnomAD
ARID5B	Q14865	p.Arg785His	rs369904878	missense variant	-	NC_000010.11:g.62091817G>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Arg785His	rs369904878	missense variant	-	NC_000010.11:g.62091817G>A	NCI-TCGA
ARID5B	Q14865	p.Arg785Cys	rs376632312	missense variant	-	NC_000010.11:g.62091816C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Cys786Tyr	rs1412061867	missense variant	-	NC_000010.11:g.62091820G>A	gnomAD
ARID5B	Q14865	p.Ser787Arg	COSM4929415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091824C>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Phe788Ile	rs1028412213	missense variant	-	NC_000010.11:g.62091825T>A	TOPMed
ARID5B	Q14865	p.Ser789Phe	rs772181686	missense variant	-	NC_000010.11:g.62091829C>T	ExAC,gnomAD
ARID5B	Q14865	p.His791Tyr	rs1469365805	missense variant	-	NC_000010.11:g.62091834C>T	gnomAD
ARID5B	Q14865	p.His791Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091836T>A	NCI-TCGA
ARID5B	Q14865	p.Leu793Phe	rs775499447	missense variant	-	NC_000010.11:g.62091840C>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro795Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091847C>T	NCI-TCGA
ARID5B	Q14865	p.Leu796His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091850T>A	NCI-TCGA
ARID5B	Q14865	p.Asp798Asn	rs374089244	missense variant	-	NC_000010.11:g.62091855G>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Tyr800Ser	rs1452208754	missense variant	-	NC_000010.11:g.62091862A>C	TOPMed,gnomAD
ARID5B	Q14865	p.Val801Ala	rs144809623	missense variant	-	NC_000010.11:g.62091865T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Val801Ile	rs376124965	missense variant	-	NC_000010.11:g.62091864G>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu802Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091867C>A	NCI-TCGA
ARID5B	Q14865	p.Gln804Ter	rs1271994691	stop gained	-	NC_000010.11:g.62091873C>T	gnomAD
ARID5B	Q14865	p.Glu805Gln	rs1316010573	missense variant	-	NC_000010.11:g.62091876G>C	gnomAD
ARID5B	Q14865	p.Glu805Gln	rs1316010573	missense variant	-	NC_000010.11:g.62091876G>C	NCI-TCGA
ARID5B	Q14865	p.Ile806Thr	rs1402825083	missense variant	-	NC_000010.11:g.62091880T>C	gnomAD
ARID5B	Q14865	p.Gln807His	rs766065304	missense variant	-	NC_000010.11:g.62091884G>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu808Gly	rs1263236576	missense variant	-	NC_000010.11:g.62091886A>G	TOPMed,gnomAD
ARID5B	Q14865	p.Gly809Asp	rs768175965	missense variant	-	NC_000010.11:g.62091889G>A	ExAC,gnomAD
ARID5B	Q14865	p.Lys810Glu	rs372755608	missense variant	-	NC_000010.11:g.62091891A>G	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys810Asn	rs767019001	missense variant	-	NC_000010.11:g.62091893G>C	ExAC,gnomAD
ARID5B	Q14865	p.Lys812Arg	COSM6130251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62091898A>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Lys812Glu	rs752194887	missense variant	-	NC_000010.11:g.62091897A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu815Asp	rs764539433	missense variant	-	NC_000010.11:g.62091908G>T	ExAC,gnomAD
ARID5B	Q14865	p.Glu815Gly	rs1357636535	missense variant	-	NC_000010.11:g.62091907A>G	TOPMed
ARID5B	Q14865	p.Glu815Lys	rs577564002	missense variant	-	NC_000010.11:g.62091906G>A	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Arg817Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091913G>T	NCI-TCGA
ARID5B	Q14865	p.Arg817GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62091909A>-	NCI-TCGA
ARID5B	Q14865	p.Ala818Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091915G>A	NCI-TCGA
ARID5B	Q14865	p.Leu819Val	rs538388144	missense variant	-	NC_000010.11:g.62091918C>G	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Pro820Ser	rs553462344	missense variant	-	NC_000010.11:g.62091921C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His821Asp	rs147521761	missense variant	-	NC_000010.11:g.62091924C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His821Asn	rs147521761	missense variant	-	NC_000010.11:g.62091924C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His821IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62091920C>-	NCI-TCGA
ARID5B	Q14865	p.Ser822Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62091928C>T	NCI-TCGA
ARID5B	Q14865	p.His823Tyr	rs1446921206	missense variant	-	NC_000010.11:g.62091930C>T	TOPMed
ARID5B	Q14865	p.Met824Thr	rs1269407329	missense variant	-	NC_000010.11:g.62091934T>C	gnomAD
ARID5B	Q14865	p.Met824Ile	rs780161428	missense variant	-	NC_000010.11:g.62091935G>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Phe827Leu	rs747085426	missense variant	-	NC_000010.11:g.62091944C>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu828Pro	rs952272035	missense variant	-	NC_000010.11:g.62091946T>C	TOPMed
ARID5B	Q14865	p.Phe831Leu	rs1342574091	missense variant	-	NC_000010.11:g.62091954T>C	TOPMed
ARID5B	Q14865	p.Tyr832Asn	rs753171994	missense variant	-	NC_000010.11:g.62091957T>A	TOPMed,gnomAD
ARID5B	Q14865	p.Tyr832His	rs753171994	missense variant	-	NC_000010.11:g.62091957T>C	TOPMed,gnomAD
ARID5B	Q14865	p.Ser833Leu	rs1322695665	missense variant	-	NC_000010.11:g.62091961C>T	gnomAD
ARID5B	Q14865	p.Pro835Arg	rs1395508594	missense variant	-	NC_000010.11:g.62091967C>G	TOPMed
ARID5B	Q14865	p.His836Tyr	rs1285691243	missense variant	-	NC_000010.11:g.62091969C>T	gnomAD
ARID5B	Q14865	p.His838Tyr	rs1377304813	missense variant	-	NC_000010.11:g.62091975C>T	TOPMed
ARID5B	Q14865	p.Tyr841Cys	rs1447253513	missense variant	-	NC_000010.11:g.62091985A>G	gnomAD
ARID5B	Q14865	p.His843Tyr	rs140085390	missense variant	-	NC_000010.11:g.62091990C>T	ESP,gnomAD
ARID5B	Q14865	p.His843Gln	rs984013941	missense variant	-	NC_000010.11:g.62091992C>A	TOPMed
ARID5B	Q14865	p.Thr844Ser	rs1410622319	missense variant	-	NC_000010.11:g.62091994C>G	TOPMed
ARID5B	Q14865	p.Glu845Gln	rs749293931	missense variant	-	NC_000010.11:g.62091996G>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu845Lys	rs749293931	missense variant	-	NC_000010.11:g.62091996G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His846Gln	rs1487545728	missense variant	-	NC_000010.11:g.62092001C>G	gnomAD
ARID5B	Q14865	p.His847Arg	rs1369546481	missense variant	-	NC_000010.11:g.62092003A>G	TOPMed
ARID5B	Q14865	p.Leu848Arg	rs770843451	missense variant	-	NC_000010.11:g.62092006T>G	ExAC,gnomAD
ARID5B	Q14865	p.Glu851Lys	rs774323914	missense variant	-	NC_000010.11:g.62092014G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Thr853Ile	rs1477973315	missense variant	-	NC_000010.11:g.62092021C>T	gnomAD
ARID5B	Q14865	p.Ser854Cys	rs1422708703	missense variant	-	NC_000010.11:g.62092024C>G	TOPMed
ARID5B	Q14865	p.Lys855Arg	rs767097497	missense variant	-	NC_000010.11:g.62092027A>G	ExAC,gnomAD
ARID5B	Q14865	p.Pro857Leu	rs775025849	missense variant	-	NC_000010.11:g.62092033C>T	ExAC,gnomAD
ARID5B	Q14865	p.Arg859Lys	rs760105542	missense variant	-	NC_000010.11:g.62092039G>A	ExAC,gnomAD
ARID5B	Q14865	p.Asp860Gly	rs1406590994	missense variant	-	NC_000010.11:g.62092042A>G	gnomAD
ARID5B	Q14865	p.Asp860Tyr	rs540450377	missense variant	-	NC_000010.11:g.62092041G>T	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Met861Leu	rs754331196	missense variant	-	NC_000010.11:g.62092044A>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Met861Val	rs754331196	missense variant	-	NC_000010.11:g.62092044A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Met861CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62092044A>-	NCI-TCGA
ARID5B	Q14865	p.Tyr862His	rs1230927713	missense variant	-	NC_000010.11:g.62092047T>C	gnomAD
ARID5B	Q14865	p.Glu864Lys	rs562277394	missense variant	-	NC_000010.11:g.62092053G>A	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu864Asp	rs750837260	missense variant	-	NC_000010.11:g.62092055A>T	ExAC,gnomAD
ARID5B	Q14865	p.Ser865Trp	rs200382682	missense variant	-	NC_000010.11:g.62092057C>G	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser865Leu	rs200382682	missense variant	-	NC_000010.11:g.62092057C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser868Arg	rs1283522133	missense variant	-	NC_000010.11:g.62092065A>C	gnomAD
ARID5B	Q14865	p.Ser869Cys	COSM684761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092069C>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser869Tyr	rs201944744	missense variant	-	NC_000010.11:g.62092069C>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser869Tyr	rs201944744	missense variant	-	NC_000010.11:g.62092069C>A	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser869Phe	rs201944744	missense variant	-	NC_000010.11:g.62092069C>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro871Leu	rs865814457	missense variant	-	NC_000010.11:g.62092075C>T	-
ARID5B	Q14865	p.Pro871Leu	rs865814457	missense variant	-	NC_000010.11:g.62092075C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser872Phe	rs755029955	missense variant	-	NC_000010.11:g.62092078C>T	ExAC,gnomAD
ARID5B	Q14865	p.His873Gln	rs1451565101	missense variant	-	NC_000010.11:g.62092082C>A	gnomAD
ARID5B	Q14865	p.His873Arg	rs1269983870	missense variant	-	NC_000010.11:g.62092081A>G	gnomAD
ARID5B	Q14865	p.His873Arg	rs1269983870	missense variant	-	NC_000010.11:g.62092081A>G	NCI-TCGA
ARID5B	Q14865	p.His875Arg	rs948006792	missense variant	-	NC_000010.11:g.62092087A>G	TOPMed
ARID5B	Q14865	p.Gln876Ter	COSM3867581	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62092089C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Glu877Gly	rs749204336	missense variant	-	NC_000010.11:g.62092093A>G	ExAC,TOPMed
ARID5B	Q14865	p.Lys878Arg	rs544883046	missense variant	-	NC_000010.11:g.62092096A>G	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu879Pro	rs774236005	missense variant	-	NC_000010.11:g.62092099T>C	ExAC,gnomAD
ARID5B	Q14865	p.His880Gln	rs1290234686	missense variant	-	NC_000010.11:g.62092103T>G	TOPMed
ARID5B	Q14865	p.Asn882Ser	rs914539124	missense variant	-	NC_000010.11:g.62092108A>G	TOPMed,gnomAD
ARID5B	Q14865	p.Thr885Met	rs374290098	missense variant	-	NC_000010.11:g.62092117C>T	ESP,ExAC,gnomAD
ARID5B	Q14865	p.Thr885Arg	rs374290098	missense variant	-	NC_000010.11:g.62092117C>G	ESP,ExAC,gnomAD
ARID5B	Q14865	p.Ser886Cys	rs1389664637	missense variant	-	NC_000010.11:g.62092120C>G	gnomAD
ARID5B	Q14865	p.Leu887Pro	rs1385018447	missense variant	-	NC_000010.11:g.62092123T>C	gnomAD
ARID5B	Q14865	p.His888Tyr	rs748731950	missense variant	-	NC_000010.11:g.62092125C>T	TOPMed
ARID5B	Q14865	p.His888Asp	rs748731950	missense variant	-	NC_000010.11:g.62092125C>G	TOPMed
ARID5B	Q14865	p.Asp891Glu	rs760433211	missense variant	-	NC_000010.11:g.62092136C>G	ExAC,gnomAD
ARID5B	Q14865	p.Ser894Ala	rs763591068	missense variant	-	NC_000010.11:g.62092143T>G	ExAC,gnomAD
ARID5B	Q14865	p.Ser894Leu	rs776160603	missense variant	-	NC_000010.11:g.62092144C>T	ExAC,gnomAD
ARID5B	Q14865	p.Ala895Thr	rs750764164	missense variant	-	NC_000010.11:g.62092146G>A	ExAC,gnomAD
ARID5B	Q14865	p.Ala896Thr	rs1052688396	missense variant	-	NC_000010.11:g.62092149G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Glu898Lys	rs1275774830	missense variant	-	NC_000010.11:g.62092155G>A	gnomAD
ARID5B	Q14865	p.Ala899Asp	rs755266107	missense variant	-	NC_000010.11:g.62092159C>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ala899Thr	rs751722643	missense variant	-	NC_000010.11:g.62092158G>A	ExAC,gnomAD
ARID5B	Q14865	p.Ala899Ser	rs751722643	missense variant	-	NC_000010.11:g.62092158G>T	ExAC,gnomAD
ARID5B	Q14865	p.Pro900Arg	rs1446678326	missense variant	-	NC_000010.11:g.62092162C>G	TOPMed,gnomAD
ARID5B	Q14865	p.Pro900Leu	rs1446678326	missense variant	-	NC_000010.11:g.62092162C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Thr901Lys	rs199637139	missense variant	-	NC_000010.11:g.62092165C>A	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Thr901Ala	rs149025306	missense variant	-	NC_000010.11:g.62092164A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Thr901Met	rs199637139	missense variant	-	NC_000010.11:g.62092165C>T	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Thr901Met	rs199637139	missense variant	-	NC_000010.11:g.62092165C>T	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Thr901Arg	rs199637139	missense variant	-	NC_000010.11:g.62092165C>G	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Gln904Arg	rs745616945	missense variant	-	NC_000010.11:g.62092174A>G	ExAC,gnomAD
ARID5B	Q14865	p.Thr906Ser	rs1008460214	missense variant	-	NC_000010.11:g.62092179A>T	TOPMed,gnomAD
ARID5B	Q14865	p.Thr906Lys	rs1464988895	missense variant	-	NC_000010.11:g.62092180C>A	gnomAD
ARID5B	Q14865	p.Thr906Ala	rs1008460214	missense variant	-	NC_000010.11:g.62092179A>G	TOPMed,gnomAD
ARID5B	Q14865	p.Thr906Arg	rs1464988895	missense variant	-	NC_000010.11:g.62092180C>G	gnomAD
ARID5B	Q14865	p.Lys912Asn	rs117023200	missense variant	-	NC_000010.11:g.62092199G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys912SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62092189_62092190insCCTT	NCI-TCGA
ARID5B	Q14865	p.Pro914Leu	rs779966636	missense variant	-	NC_000010.11:g.62092204C>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro914Thr	rs1267735193	missense variant	-	NC_000010.11:g.62092203C>A	TOPMed
ARID5B	Q14865	p.Lys916Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.62092209A>T	NCI-TCGA
ARID5B	Q14865	p.Thr918Ile	rs1487431610	missense variant	-	NC_000010.11:g.62092216C>T	TOPMed
ARID5B	Q14865	p.Gly919Ser	rs776070701	missense variant	-	NC_000010.11:g.62092218G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly919Arg	rs776070701	missense variant	-	NC_000010.11:g.62092218G>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys920Asn	rs1243138820	missense variant	-	NC_000010.11:g.62092223G>T	gnomAD
ARID5B	Q14865	p.Leu922Val	rs770222889	missense variant	-	NC_000010.11:g.62092227C>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly923Asp	rs1319253103	missense variant	-	NC_000010.11:g.62092231G>A	gnomAD
ARID5B	Q14865	p.Ala925Val	rs897007455	missense variant	-	NC_000010.11:g.62092237C>T	TOPMed
ARID5B	Q14865	p.His926Tyr	rs1198498194	missense variant	-	NC_000010.11:g.62092239C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Thr928Ile	rs1385609982	missense variant	-	NC_000010.11:g.62092246C>T	TOPMed
ARID5B	Q14865	p.Glu933Lys	rs1457286170	missense variant	-	NC_000010.11:g.62092260G>A	TOPMed
ARID5B	Q14865	p.Glu933Gly	rs1387501045	missense variant	-	NC_000010.11:g.62092261A>G	TOPMed
ARID5B	Q14865	p.Ser934Gly	rs1195081675	missense variant	-	NC_000010.11:g.62092263A>G	NCI-TCGA
ARID5B	Q14865	p.Ser934Gly	rs1195081675	missense variant	-	NC_000010.11:g.62092263A>G	gnomAD
ARID5B	Q14865	p.Ser934Arg	rs151219827	missense variant	-	NC_000010.11:g.62092265C>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly936Ala	rs367626764	missense variant	-	NC_000010.11:g.62092270G>C	ESP,ExAC,gnomAD
ARID5B	Q14865	p.Gln939His	rs752756858	missense variant	-	NC_000010.11:g.62092280G>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Phe940Leu	rs1469908431	missense variant	-	NC_000010.11:g.62092283C>A	gnomAD
ARID5B	Q14865	p.Val942Ile	rs756275189	missense variant	-	NC_000010.11:g.62092287G>A	ExAC,gnomAD
ARID5B	Q14865	p.Val942Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092288T>G	NCI-TCGA
ARID5B	Q14865	p.Ser945Asn	rs750322628	missense variant	-	NC_000010.11:g.62092297G>A	ExAC,gnomAD
ARID5B	Q14865	p.Arg948Gln	COSM2158059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092306G>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg948Ter	COSM1348524	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62092305C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg948Leu	rs1378000234	missense variant	-	NC_000010.11:g.62092306G>T	TOPMed
ARID5B	Q14865	p.Arg948Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092305C>G	NCI-TCGA
ARID5B	Q14865	p.Asp949Glu	rs1026765832	missense variant	-	NC_000010.11:g.62092310C>A	TOPMed,gnomAD
ARID5B	Q14865	p.Cys950Tyr	rs758401961	missense variant	-	NC_000010.11:g.62092312G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro952Ser	rs1249802128	missense variant	-	NC_000010.11:g.62092317C>T	TOPMed
ARID5B	Q14865	p.Ala954Asp	rs779693229	missense variant	-	NC_000010.11:g.62092324C>A	ExAC,gnomAD
ARID5B	Q14865	p.Arg956Gln	rs746843478	missense variant	-	NC_000010.11:g.62092330G>A	ExAC,gnomAD
ARID5B	Q14865	p.Arg956Trp	rs952373984	missense variant	-	NC_000010.11:g.62092329C>T	gnomAD
ARID5B	Q14865	p.Val957Ala	rs1193575018	missense variant	-	NC_000010.11:g.62092333T>C	NCI-TCGA Cosmic
ARID5B	Q14865	p.Val957Leu	rs1255438374	missense variant	-	NC_000010.11:g.62092332G>T	gnomAD
ARID5B	Q14865	p.Val957Ala	rs1193575018	missense variant	-	NC_000010.11:g.62092333T>C	gnomAD
ARID5B	Q14865	p.Thr961Ser	rs780830671	missense variant	-	NC_000010.11:g.62092344A>T	ExAC,gnomAD
ARID5B	Q14865	p.Ser963Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092350T>C	NCI-TCGA
ARID5B	Q14865	p.Gly964Val	COSM3439505	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092354G>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Pro965Ala	rs1487871675	missense variant	-	NC_000010.11:g.62092356C>G	TOPMed,gnomAD
ARID5B	Q14865	p.Lys967AsnPheSerTerUnkUnk	COSM293506	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.62092359A>-	NCI-TCGA Cosmic
ARID5B	Q14865	p.Tyr968IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62092358_62092359insA	NCI-TCGA
ARID5B	Q14865	p.Pro969Arg	rs1480696945	missense variant	-	NC_000010.11:g.62092369C>G	gnomAD
ARID5B	Q14865	p.Glu970Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092373A>T	NCI-TCGA
ARID5B	Q14865	p.Glu970Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092371G>A	NCI-TCGA
ARID5B	Q14865	p.Ser971Ala	rs1375363715	missense variant	-	NC_000010.11:g.62092374T>G	gnomAD
ARID5B	Q14865	p.Ser971Leu	rs772815163	missense variant	-	NC_000010.11:g.62092375C>T	ExAC,gnomAD
ARID5B	Q14865	p.Ser971Leu	rs772815163	missense variant	-	NC_000010.11:g.62092375C>T	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg974Lys	rs774536160	missense variant	-	NC_000010.11:g.62092384G>A	ExAC,gnomAD
ARID5B	Q14865	p.Arg974Gly	rs371725043	missense variant	-	NC_000010.11:g.62092383A>G	ESP,ExAC,gnomAD
ARID5B	Q14865	p.Arg974Thr	rs774536160	missense variant	-	NC_000010.11:g.62092384G>C	ExAC,gnomAD
ARID5B	Q14865	p.Ser975Leu	COSM3439507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092387C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser975Pro	rs1345910651	missense variant	-	NC_000010.11:g.62092386T>C	TOPMed
ARID5B	Q14865	p.Gly976Ala	rs1438102292	missense variant	-	NC_000010.11:g.62092390G>C	TOPMed,gnomAD
ARID5B	Q14865	p.Pro978Leu	COSM1348525	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092396C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.His979Gln	rs1231528384	missense variant	-	NC_000010.11:g.62092400C>A	TOPMed
ARID5B	Q14865	p.His980Arg	rs759982287	missense variant	-	NC_000010.11:g.62092402A>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His980Gln	rs567434039	missense variant	-	NC_000010.11:g.62092403T>G	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Asn985His	rs775841261	missense variant	-	NC_000010.11:g.62092416A>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Arg987Gly	rs764050346	missense variant	-	NC_000010.11:g.62092422A>G	ExAC,gnomAD
ARID5B	Q14865	p.Met989Ile	rs960830410	missense variant	-	NC_000010.11:g.62092430G>C	TOPMed,gnomAD
ARID5B	Q14865	p.Met989Val	rs1287061869	missense variant	-	NC_000010.11:g.62092428A>G	gnomAD
ARID5B	Q14865	p.Glu990Asp	rs754000245	missense variant	-	NC_000010.11:g.62092433A>T	ExAC,gnomAD
ARID5B	Q14865	p.Gly991Ser	rs758222648	missense variant	-	NC_000010.11:g.62092434G>A	ExAC,gnomAD
ARID5B	Q14865	p.Met992Thr	rs1190493893	missense variant	-	NC_000010.11:g.62092438T>C	gnomAD
ARID5B	Q14865	p.Met992Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092439G>C	NCI-TCGA
ARID5B	Q14865	p.His994Gln	rs766373183	missense variant	-	NC_000010.11:g.62092445C>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.His994Arg	rs1265170141	missense variant	-	NC_000010.11:g.62092444A>G	gnomAD
ARID5B	Q14865	p.Pro995Arg	rs751291726	missense variant	-	NC_000010.11:g.62092447C>G	ExAC,gnomAD
ARID5B	Q14865	p.Arg999Gln	rs916811022	missense variant	-	NC_000010.11:g.62092459G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Met1001Val	rs754783451	missense variant	-	NC_000010.11:g.62092464A>G	ExAC,gnomAD
ARID5B	Q14865	p.Pro1003Leu	rs1367766830	missense variant	-	NC_000010.11:g.62092471C>T	TOPMed,gnomAD
ARID5B	Q14865	p.Ile1006Thr	rs755809773	missense variant	-	NC_000010.11:g.62092480T>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ile1006Phe	rs747798038	missense variant	-	NC_000010.11:g.62092479A>T	ExAC,gnomAD
ARID5B	Q14865	p.Gly1007Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092483G>A	NCI-TCGA
ARID5B	Q14865	p.Ala1008Val	rs1376484834	missense variant	-	NC_000010.11:g.62092486C>T	gnomAD
ARID5B	Q14865	p.Ala1009Gly	COSM4015034	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092489C>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ala1009Val	rs145564601	missense variant	-	NC_000010.11:g.62092489C>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Arg1010Gln	rs137983907	missense variant	-	NC_000010.11:g.62092492G>A	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg1010Pro	rs137983907	missense variant	-	NC_000010.11:g.62092492G>C	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Arg1010Gln	rs137983907	missense variant	-	NC_000010.11:g.62092492G>A	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro1011Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092494C>T	NCI-TCGA
ARID5B	Q14865	p.Arg1014Cys	rs1178738385	missense variant	-	NC_000010.11:g.62092503C>T	gnomAD
ARID5B	Q14865	p.Arg1014His	rs1236991649	missense variant	-	NC_000010.11:g.62092504G>A	gnomAD
ARID5B	Q14865	p.Arg1014Cys	rs1178738385	missense variant	-	NC_000010.11:g.62092503C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Leu1016Met	rs761958341	missense variant	-	NC_000010.11:g.62092509C>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Leu1016Val	rs761958341	missense variant	-	NC_000010.11:g.62092509C>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu1017Val	rs1414049749	missense variant	-	NC_000010.11:g.62092513A>T	gnomAD
ARID5B	Q14865	p.Asp1018Tyr	rs1406382655	missense variant	-	NC_000010.11:g.62092515G>T	gnomAD
ARID5B	Q14865	p.Asp1018Asn	rs1406382655	missense variant	-	NC_000010.11:g.62092515G>A	gnomAD
ARID5B	Q14865	p.Val1022Met	rs947375192	missense variant	-	NC_000010.11:g.62092527G>A	gnomAD
ARID5B	Q14865	p.Val1022Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092528T>C	NCI-TCGA
ARID5B	Q14865	p.Gly1025Glu	COSM3439511	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092537G>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Gly1025Arg	COSM684759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092536G>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Lys1026Glu	rs752506951	missense variant	-	NC_000010.11:g.62092539A>G	ExAC,gnomAD
ARID5B	Q14865	p.Lys1026Gln	rs752506951	missense variant	-	NC_000010.11:g.62092539A>C	ExAC,gnomAD
ARID5B	Q14865	p.Ala1028Ser	rs1444644383	missense variant	-	NC_000010.11:g.62092545G>T	gnomAD
ARID5B	Q14865	p.Arg1029Trp	COSM278975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092548C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Arg1029Gln	rs755680117	missense variant	-	NC_000010.11:g.62092549G>A	ExAC,gnomAD
ARID5B	Q14865	p.Arg1029Pro	rs755680117	missense variant	-	NC_000010.11:g.62092549G>C	ExAC,gnomAD
ARID5B	Q14865	p.Ala1030Glu	rs571413236	missense variant	-	NC_000010.11:g.62092552C>A	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ala1030Val	rs571413236	missense variant	-	NC_000010.11:g.62092552C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ala1030Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092551G>C	NCI-TCGA
ARID5B	Q14865	p.Val1031Met	rs538252997	missense variant	-	NC_000010.11:g.62092554G>A	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Pro1033Ser	rs1340574832	missense variant	-	NC_000010.11:g.62092560C>T	NCI-TCGA
ARID5B	Q14865	p.Pro1033Ser	rs1340574832	missense variant	-	NC_000010.11:g.62092560C>T	TOPMed
ARID5B	Q14865	p.Pro1033Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092561C>T	NCI-TCGA
ARID5B	Q14865	p.Leu1034Ser	rs1325797528	missense variant	-	NC_000010.11:g.62092564T>C	TOPMed,gnomAD
ARID5B	Q14865	p.Pro1036Ala	rs1256883858	missense variant	-	NC_000010.11:g.62092569C>G	gnomAD
ARID5B	Q14865	p.Val1040Phe	rs778633528	missense variant	-	NC_000010.11:g.62092581G>T	ExAC,gnomAD
ARID5B	Q14865	p.Gly1042Arg	rs1340750457	missense variant	-	NC_000010.11:g.62092587G>A	TOPMed
ARID5B	Q14865	p.Lys1043Arg	rs200691666	missense variant	-	NC_000010.11:g.62092591A>G	1000Genomes,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Lys1045Thr	rs775949292	missense variant	-	NC_000010.11:g.62092597A>C	ExAC,gnomAD
ARID5B	Q14865	p.Ala1046Gly	rs747411203	missense variant	-	NC_000010.11:g.62092600C>G	ExAC,gnomAD
ARID5B	Q14865	p.Glu1048Lys	rs1172094709	missense variant	-	NC_000010.11:g.62092605G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Gln1049Arg	rs1464172612	missense variant	-	NC_000010.11:g.62092609A>G	gnomAD
ARID5B	Q14865	p.Glu1050Lys	rs769917213	missense variant	-	NC_000010.11:g.62092611G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Glu1052Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092617G>A	NCI-TCGA
ARID5B	Q14865	p.Ala1057Val	rs1300866874	missense variant	-	NC_000010.11:g.62092633C>T	gnomAD
ARID5B	Q14865	p.Gly1059Arg	rs1277563545	missense variant	-	NC_000010.11:g.62092638G>C	gnomAD
ARID5B	Q14865	p.Gly1059Ala	rs752420847	missense variant	-	NC_000010.11:g.62092639G>C	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly1060Glu	rs760529598	missense variant	-	NC_000010.11:g.62092642G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly1063Arg	rs376805718	missense variant	-	NC_000010.11:g.62092650G>A	NCI-TCGA,NCI-TCGA Cosmic
ARID5B	Q14865	p.Gly1063Arg	rs376805718	missense variant	-	NC_000010.11:g.62092650G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly1064Cys	rs1484124255	missense variant	-	NC_000010.11:g.62092653G>T	TOPMed
ARID5B	Q14865	p.Gly1064Asp	rs199685713	missense variant	-	NC_000010.11:g.62092654G>A	1000Genomes
ARID5B	Q14865	p.Gly1064Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092654G>C	NCI-TCGA
ARID5B	Q14865	p.Gly1065Arg	rs778543737	missense variant	-	NC_000010.11:g.62092656G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Gly1065Glu	rs749976442	missense variant	-	NC_000010.11:g.62092657G>A	ExAC,gnomAD
ARID5B	Q14865	p.Gly1065Ala	rs749976442	missense variant	-	NC_000010.11:g.62092657G>C	ExAC,gnomAD
ARID5B	Q14865	p.Ser1066Thr	rs1467387088	missense variant	-	NC_000010.11:g.62092659T>A	TOPMed,gnomAD
ARID5B	Q14865	p.Ser1066Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092660C>T	NCI-TCGA
ARID5B	Q14865	p.Glu1067Gly	rs780712658	missense variant	-	NC_000010.11:g.62092663A>G	ExAC,gnomAD
ARID5B	Q14865	p.Gly1068Val	rs747279944	missense variant	-	NC_000010.11:g.62092666G>T	ExAC,gnomAD
ARID5B	Q14865	p.His1069Gln	rs574165686	missense variant	-	NC_000010.11:g.62092670C>A	1000Genomes,ExAC,gnomAD
ARID5B	Q14865	p.Lys1070Arg	rs1174292279	missense variant	-	NC_000010.11:g.62092672A>G	gnomAD
ARID5B	Q14865	p.Pro1072Leu	rs1362687523	missense variant	-	NC_000010.11:g.62092678C>T	gnomAD
ARID5B	Q14865	p.Leu1073Phe	rs748374587	missense variant	-	NC_000010.11:g.62092680C>T	ExAC,gnomAD
ARID5B	Q14865	p.Leu1073Ile	rs748374587	missense variant	-	NC_000010.11:g.62092680C>A	ExAC,gnomAD
ARID5B	Q14865	p.Ser1075Cys	rs773233273	missense variant	-	NC_000010.11:g.62092687C>G	ExAC,gnomAD
ARID5B	Q14865	p.Pro1076Arg	rs763022701	missense variant	-	NC_000010.11:g.62092690C>G	ExAC,gnomAD
ARID5B	Q14865	p.Pro1076Leu	rs763022701	missense variant	-	NC_000010.11:g.62092690C>T	ExAC,gnomAD
ARID5B	Q14865	p.Ile1077Met	rs1343745122	missense variant	-	NC_000010.11:g.62092694C>G	gnomAD
ARID5B	Q14865	p.Ile1077Val	rs771935665	missense variant	-	NC_000010.11:g.62092692A>G	ExAC,TOPMed
ARID5B	Q14865	p.Phe1078Val	rs1215947530	missense variant	-	NC_000010.11:g.62092695T>G	TOPMed,gnomAD
ARID5B	Q14865	p.Gly1080Ser	rs1231090488	missense variant	-	NC_000010.11:g.62092701G>A	TOPMed
ARID5B	Q14865	p.Tyr1082Phe	rs760594078	missense variant	-	NC_000010.11:g.62092708A>T	ExAC
ARID5B	Q14865	p.Ser1083Ala	rs1285964900	missense variant	-	NC_000010.11:g.62092710T>G	gnomAD
ARID5B	Q14865	p.Gly1084Arg	rs753624328	missense variant	-	NC_000010.11:g.62092713G>A	ExAC,gnomAD
ARID5B	Q14865	p.Ser1085Asn	rs761478562	missense variant	-	NC_000010.11:g.62092717G>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser1085Ile	rs761478562	missense variant	-	NC_000010.11:g.62092717G>T	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Ser1085Arg	rs1201566710	missense variant	-	NC_000010.11:g.62092718C>G	TOPMed,gnomAD
ARID5B	Q14865	p.Leu1086Val	rs765012710	missense variant	-	NC_000010.11:g.62092719C>G	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Cys1087Arg	rs1477778114	missense variant	-	NC_000010.11:g.62092722T>C	gnomAD
ARID5B	Q14865	p.Ser1089Leu	rs1170860237	missense variant	-	NC_000010.11:g.62092729C>T	gnomAD
ARID5B	Q14865	p.Ser1089Leu	rs1170860237	missense variant	-	NC_000010.11:g.62092729C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Gly1090Ser	rs1405830003	missense variant	-	NC_000010.11:g.62092731G>A	TOPMed
ARID5B	Q14865	p.Leu1091Phe	rs141027688	missense variant	-	NC_000010.11:g.62092734C>T	ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Arg1094Ser	rs779771698	missense variant	-	NC_000010.11:g.62092745G>T	ExAC,gnomAD
ARID5B	Q14865	p.Arg1094Ser	rs779771698	missense variant	-	NC_000010.11:g.62092745G>C	ExAC,gnomAD
ARID5B	Q14865	p.Pro1096Ser	COSM3439513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092749C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Pro1096Leu	rs79237609	missense variant	-	NC_000010.11:g.62092750C>T	gnomAD
ARID5B	Q14865	p.Ala1097Thr	rs752105540	missense variant	-	NC_000010.11:g.62092752G>A	ExAC,TOPMed
ARID5B	Q14865	p.Ala1097Ser	rs752105540	missense variant	-	NC_000010.11:g.62092752G>T	ExAC,TOPMed
ARID5B	Q14865	p.Gly1098Arg	rs755481975	missense variant	-	NC_000010.11:g.62092755G>A	ExAC,gnomAD
ARID5B	Q14865	p.Tyr1099Asp	rs1433741917	missense variant	-	NC_000010.11:g.62092758T>G	gnomAD
ARID5B	Q14865	p.His1101Arg	rs1377220137	missense variant	-	NC_000010.11:g.62092765A>G	gnomAD
ARID5B	Q14865	p.His1101Tyr	rs1164426377	missense variant	-	NC_000010.11:g.62092764C>T	gnomAD
ARID5B	Q14865	p.His1101Leu	rs1377220137	missense variant	-	NC_000010.11:g.62092765A>T	gnomAD
ARID5B	Q14865	p.Gln1104Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.62092773C>T	NCI-TCGA
ARID5B	Q14865	p.Lys1107Arg	rs777981850	missense variant	-	NC_000010.11:g.62092783A>G	ExAC,gnomAD
ARID5B	Q14865	p.Asn1108Ser	rs770993100	missense variant	-	NC_000010.11:g.62092786A>G	ExAC,gnomAD
ARID5B	Q14865	p.Asn1108His	rs749567066	missense variant	-	NC_000010.11:g.62092785A>C	ExAC,gnomAD
ARID5B	Q14865	p.Gln1109Lys	rs1291272523	missense variant	-	NC_000010.11:g.62092788C>A	gnomAD
ARID5B	Q14865	p.Val1111Leu	rs1163681085	missense variant	-	NC_000010.11:g.62092794G>T	TOPMed,gnomAD
ARID5B	Q14865	p.Val1111Leu	rs1163681085	missense variant	-	NC_000010.11:g.62092794G>C	TOPMed,gnomAD
ARID5B	Q14865	p.Pro1114Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092804C>T	NCI-TCGA
ARID5B	Q14865	p.Met1116Val	COSM919400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092809A>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Met1116Leu	rs768499894	missense variant	-	NC_000010.11:g.62092809A>C	ExAC,gnomAD
ARID5B	Q14865	p.Ala1120Ser	rs1451482154	missense variant	-	NC_000010.11:g.62092821G>T	TOPMed
ARID5B	Q14865	p.His1122Gln	rs1288536675	missense variant	-	NC_000010.11:g.62092829C>G	TOPMed
ARID5B	Q14865	p.Ser1123Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092831C>T	NCI-TCGA
ARID5B	Q14865	p.Leu1124Phe	rs764926817	missense variant	-	NC_000010.11:g.62092833C>T	ExAC,gnomAD
ARID5B	Q14865	p.Leu1124Phe	rs764926817	missense variant	-	NC_000010.11:g.62092833C>T	NCI-TCGA
ARID5B	Q14865	p.Arg1128Gly	rs1473681321	missense variant	-	NC_000010.11:g.62092845A>G	gnomAD
ARID5B	Q14865	p.Phe1131Cys	COSM919401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092855T>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Phe1131LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62092852T>-	NCI-TCGA
ARID5B	Q14865	p.Thr1132Pro	rs779922348	missense variant	-	NC_000010.11:g.62092857A>C	TOPMed,gnomAD
ARID5B	Q14865	p.Ser1133Thr	rs765959720	missense variant	-	NC_000010.11:g.62092860T>A	ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Pro1134Leu	rs1445382489	missense variant	-	NC_000010.11:g.62092864C>T	gnomAD
ARID5B	Q14865	p.Pro1134Thr	rs751082363	missense variant	-	NC_000010.11:g.62092863C>A	ExAC,gnomAD
ARID5B	Q14865	p.Pro1134LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.62092863_62092872CCGACAAATT>-	NCI-TCGA
ARID5B	Q14865	p.Ser1137Ala	COSM919402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092872T>G	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser1137Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092873C>A	NCI-TCGA
ARID5B	Q14865	p.Ser1137Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092873C>T	NCI-TCGA
ARID5B	Q14865	p.Gln1139Arg	rs1370932519	missense variant	-	NC_000010.11:g.62092879A>G	TOPMed
ARID5B	Q14865	p.Leu1140Pro	rs1319691898	missense variant	-	NC_000010.11:g.62092882T>C	gnomAD
ARID5B	Q14865	p.Tyr1141Phe	rs755468425	missense variant	-	NC_000010.11:g.62092885A>T	ExAC,gnomAD
ARID5B	Q14865	p.Tyr1141Cys	rs755468425	missense variant	-	NC_000010.11:g.62092885A>G	ExAC,gnomAD
ARID5B	Q14865	p.His1143Tyr	rs1276332232	missense variant	-	NC_000010.11:g.62092890C>T	TOPMed
ARID5B	Q14865	p.Leu1144Phe	rs746936582	missense variant	-	NC_000010.11:g.62092895G>C	gnomAD
ARID5B	Q14865	p.Ala1146Val	rs1349220963	missense variant	-	NC_000010.11:g.62092900C>T	TOPMed
ARID5B	Q14865	p.Ala1146Val	rs1349220963	missense variant	-	NC_000010.11:g.62092900C>T	NCI-TCGA
ARID5B	Q14865	p.Ala1147Pro	rs753043945	missense variant	-	NC_000010.11:g.62092902G>C	ExAC,gnomAD
ARID5B	Q14865	p.Thr1148Lys	rs778176196	missense variant	-	NC_000010.11:g.62092906C>A	ExAC,gnomAD
ARID5B	Q14865	p.Pro1149His	rs1290988046	missense variant	-	NC_000010.11:g.62092909C>A	gnomAD
ARID5B	Q14865	p.Val1150Ile	rs749479364	missense variant	-	NC_000010.11:g.62092911G>A	ExAC,gnomAD
ARID5B	Q14865	p.Tyr1154Cys	rs757523047	missense variant	-	NC_000010.11:g.62092924A>G	ExAC,gnomAD
ARID5B	Q14865	p.Gly1155Glu	rs1236636347	missense variant	-	NC_000010.11:g.62092927G>A	NCI-TCGA Cosmic
ARID5B	Q14865	p.Gly1155Glu	rs1236636347	missense variant	-	NC_000010.11:g.62092927G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Gly1155Val	rs1236636347	missense variant	-	NC_000010.11:g.62092927G>T	TOPMed,gnomAD
ARID5B	Q14865	p.Asp1156Asn	rs779001361	missense variant	-	NC_000010.11:g.62092929G>A	ExAC,gnomAD
ARID5B	Q14865	p.Asp1156Tyr	rs779001361	missense variant	-	NC_000010.11:g.62092929G>T	ExAC,gnomAD
ARID5B	Q14865	p.Leu1158Trp	rs768573131	missense variant	-	NC_000010.11:g.62092936T>G	ExAC,gnomAD
ARID5B	Q14865	p.His1159Arg	rs748157002	missense variant	-	NC_000010.11:g.62092939A>G	ExAC
ARID5B	Q14865	p.Asn1160Asp	rs769710985	missense variant	-	NC_000010.11:g.62092941A>G	ExAC,gnomAD
ARID5B	Q14865	p.Ile1162Met	rs1235515490	missense variant	-	NC_000010.11:g.62092949T>G	gnomAD
ARID5B	Q14865	p.Tyr1163Ter	rs1266473400	stop gained	-	NC_000010.11:g.62092952C>G	gnomAD
ARID5B	Q14865	p.Pro1164Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092953C>T	NCI-TCGA
ARID5B	Q14865	p.Ala1166Val	rs979495140	missense variant	-	NC_000010.11:g.62092960C>T	TOPMed
ARID5B	Q14865	p.Ile1168Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092967A>G	NCI-TCGA
ARID5B	Q14865	p.Pro1170Thr	rs149557934	missense variant	-	NC_000010.11:g.62092971C>A	ESP,ExAC,gnomAD
ARID5B	Q14865	p.Pro1170Ser	rs149557934	missense variant	-	NC_000010.11:g.62092971C>T	ESP,ExAC,gnomAD
ARID5B	Q14865	p.Gln1171Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.62092974C>G	NCI-TCGA
ARID5B	Q14865	p.Ala1172Ser	rs1396209445	missense variant	-	NC_000010.11:g.62092977G>T	gnomAD
ARID5B	Q14865	p.Ala1173Asp	rs1465882867	missense variant	-	NC_000010.11:g.62092981C>A	TOPMed
ARID5B	Q14865	p.Ala1173Thr	rs1264515245	missense variant	-	NC_000010.11:g.62092980G>A	TOPMed,gnomAD
ARID5B	Q14865	p.Pro1175Leu	COSM3439517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.62092987C>T	NCI-TCGA Cosmic
ARID5B	Q14865	p.Ser1176Tyr	rs1340309576	missense variant	-	NC_000010.11:g.62092990C>A	gnomAD
ARID5B	Q14865	p.Ser1180Leu	rs1207724828	missense variant	-	NC_000010.11:g.62093002C>T	TOPMed
ARID5B	Q14865	p.Ser1181Cys	rs1218120279	missense variant	-	NC_000010.11:g.62093005C>G	gnomAD
ARID5B	Q14865	p.Val1182Met	rs144254235	missense variant	-	NC_000010.11:g.62093007G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARID5B	Q14865	p.Thr1186Ala	rs753137439	missense variant	-	NC_000010.11:g.62093019A>G	ExAC,gnomAD
ARID5B	Q14865	p.Lys1187Glu	rs1255716370	missense variant	-	NC_000010.11:g.62093022A>G	gnomAD
ARID5B	Q14865	p.Ter1189TyrGluUnkThrTerUnkUnk	NCI-TCGA novel	stop lost	-	NC_000010.11:g.62093030G>C	NCI-TCGA
NECTIN1	Q15223	p.Ala2Val	rs1166277608	missense variant	-	NC_000011.10:g.119728549G>A	TOPMed,gnomAD
NECTIN1	Q15223	p.Arg3Gly	rs1182569400	missense variant	-	NC_000011.10:g.119728547G>C	TOPMed
NECTIN1	Q15223	p.Ala7Val	rs1234549550	missense variant	-	NC_000011.10:g.119728534G>A	TOPMed
NECTIN1	Q15223	p.Gly11Glu	rs935113321	missense variant	-	NC_000011.10:g.119728522C>T	TOPMed,gnomAD
NECTIN1	Q15223	p.Arg12Leu	rs772860904	missense variant	-	NC_000011.10:g.119728519C>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Leu18Phe	rs199772536	missense variant	-	NC_000011.10:g.119728502G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Leu20Phe	rs775567703	missense variant	-	NC_000011.10:g.119728494C>A	ExAC,gnomAD
NECTIN1	Q15223	p.Thr21Ile	rs1313805070	missense variant	-	NC_000011.10:g.119728492G>A	gnomAD
NECTIN1	Q15223	p.Ala22Thr	rs772078803	missense variant	-	NC_000011.10:g.119728490C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Ala22Ser	rs772078803	missense variant	-	NC_000011.10:g.119728490C>A	ExAC,gnomAD
NECTIN1	Q15223	p.Ala22Val	rs561234624	missense variant	-	NC_000011.10:g.119728489G>A	1000Genomes,ExAC,gnomAD
NECTIN1	Q15223	p.Pro26Leu	rs1369381287	missense variant	-	NC_000011.10:g.119728477G>A	gnomAD
NECTIN1	Q15223	p.Pro26Ala	rs1409930284	missense variant	-	NC_000011.10:g.119728478G>C	gnomAD
NECTIN1	Q15223	p.Gly27Asp	rs1488556503	missense variant	-	NC_000011.10:g.119678765C>T	TOPMed,gnomAD
NECTIN1	Q15223	p.Gly27Ala	rs1488556503	missense variant	-	NC_000011.10:g.119678765C>G	TOPMed,gnomAD
NECTIN1	Q15223	p.Val28Ile	rs200377205	missense variant	-	NC_000011.10:g.119678763C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val28Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119678762A>G	NCI-TCGA
NECTIN1	Q15223	p.Ser30Phe	rs1343875215	missense variant	-	NC_000011.10:g.119678756G>A	gnomAD
NECTIN1	Q15223	p.Gln31Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119678753T>A	NCI-TCGA
NECTIN1	Q15223	p.Gln31ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.119678755_119678756insGA	NCI-TCGA
NECTIN1	Q15223	p.Val33Asp	rs1467396266	missense variant	-	NC_000011.10:g.119678747A>T	TOPMed
NECTIN1	Q15223	p.Val33Ala	rs1467396266	missense variant	-	NC_000011.10:g.119678747A>G	TOPMed
NECTIN1	Q15223	p.Gln34Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119678744T>A	NCI-TCGA
NECTIN1	Q15223	p.Gln34Ter	rs1297812144	stop gained	-	NC_000011.10:g.119678745G>A	gnomAD
NECTIN1	Q15223	p.Asp37Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119678735T>C	NCI-TCGA
NECTIN1	Q15223	p.Asp37Asn	rs758090526	missense variant	-	NC_000011.10:g.119678736C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ser38Cys	rs553054866	missense variant	-	NC_000011.10:g.119678732G>C	1000Genomes,ExAC,gnomAD
NECTIN1	Q15223	p.Met39Ile	rs1175998943	missense variant	-	NC_000011.10:g.119678728C>T	TOPMed
NECTIN1	Q15223	p.Met39Thr	rs200212477	missense variant	-	NC_000011.10:g.119678729A>G	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ile43Met	rs908869648	missense variant	-	NC_000011.10:g.119678716G>C	TOPMed,gnomAD
NECTIN1	Q15223	p.Gly44Asp	COSM1585438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678714C>T	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Gly44Ser	rs137991779	missense variant	-	NC_000011.10:g.119678715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr45Ile	rs764063118	missense variant	-	NC_000011.10:g.119678711G>A	ExAC,gnomAD
NECTIN1	Q15223	p.Val47Met	rs774525197	missense variant	-	NC_000011.10:g.119678706C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val48Phe	rs766323438	missense variant	-	NC_000011.10:g.119678703C>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ser52Thr	rs1483727222	missense variant	-	NC_000011.10:g.119678690C>G	gnomAD
NECTIN1	Q15223	p.Asn55Lys	rs1274957915	missense variant	-	NC_000011.10:g.119678680G>T	TOPMed,gnomAD
NECTIN1	Q15223	p.Pro56Leu	rs773242843	missense variant	-	NC_000011.10:g.119678678G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ser59Arg	rs139418917	missense variant	-	NC_000011.10:g.119678668G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val60Met	rs748582329	missense variant	-	NC_000011.10:g.119678667C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val60Gly	rs777114079	missense variant	-	NC_000011.10:g.119678666A>C	ExAC,gnomAD
NECTIN1	Q15223	p.Thr63Ser	COSM6131602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678658T>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Val65Leu	rs368373192	missense variant	-	NC_000011.10:g.119678652C>G	ESP,TOPMed,gnomAD
NECTIN1	Q15223	p.Val65Ile	rs368373192	missense variant	-	NC_000011.10:g.119678652C>T	ESP,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr66Ser	rs554886068	missense variant	-	NC_000011.10:g.119678649T>A	1000Genomes,ExAC,gnomAD
NECTIN1	Q15223	p.Thr66Ile	rs1308930440	missense variant	-	NC_000011.10:g.119678648G>A	gnomAD
NECTIN1	Q15223	p.Gln68Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.119678643G>A	NCI-TCGA
NECTIN1	Q15223	p.Ser70Phe	rs779628582	missense variant	-	NC_000011.10:g.119678636G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly73Ser	rs1394521491	missense variant	-	NC_000011.10:g.119678628C>T	gnomAD
NECTIN1	Q15223	p.Lys75Arg	rs757777524	missense variant	-	NC_000011.10:g.119678621T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Gln76Glu	rs778591472	missense variant	-	NC_000011.10:g.119678619G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gln76His	rs374378792	missense variant	-	NC_000011.10:g.119678617C>A	ESP,ExAC,gnomAD
NECTIN1	Q15223	p.Val78Met	rs763840300	missense variant	-	NC_000011.10:g.119678613C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ile80Thr	rs1181093702	missense variant	-	NC_000011.10:g.119678606A>G	gnomAD
NECTIN1	Q15223	p.Asn82Lys	rs752522011	missense variant	-	NC_000011.10:g.119678599G>C	ExAC,gnomAD
NECTIN1	Q15223	p.Asn82Ser	rs962696151	missense variant	-	NC_000011.10:g.119678600T>C	TOPMed,gnomAD
NECTIN1	Q15223	p.Met85Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119678591A>G	NCI-TCGA
NECTIN1	Q15223	p.Val87Leu	rs141573833	missense variant	-	NC_000011.10:g.119678586C>A	ESP,TOPMed,gnomAD
NECTIN1	Q15223	p.Val87Met	rs141573833	missense variant	-	NC_000011.10:g.119678586C>T	ESP,TOPMed,gnomAD
NECTIN1	Q15223	p.Val89Met	rs750518156	missense variant	-	NC_000011.10:g.119678580C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala91Val	rs1289073992	missense variant	-	NC_000011.10:g.119678573G>A	gnomAD
NECTIN1	Q15223	p.Tyr93Cys	rs1306078528	missense variant	-	NC_000011.10:g.119678567T>C	TOPMed
NECTIN1	Q15223	p.Arg94Cys	rs1409224995	missense variant	-	NC_000011.10:g.119678565G>A	gnomAD
NECTIN1	Q15223	p.Arg94His	rs370390168	missense variant	-	NC_000011.10:g.119678564C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg94Leu	rs370390168	missense variant	-	NC_000011.10:g.119678564C>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Glu95Lys	rs745849418	missense variant	-	NC_000011.10:g.119678562C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg96Cys	rs761246972	missense variant	-	NC_000011.10:g.119678559G>A	ExAC,gnomAD
NECTIN1	Q15223	p.Arg96His	rs373047519	missense variant	-	NC_000011.10:g.119678558C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val97Met	rs772616532	missense variant	-	NC_000011.10:g.119678556C>T	ExAC,TOPMed
NECTIN1	Q15223	p.Leu100Pro	rs1458745574	missense variant	-	NC_000011.10:g.119678546A>G	gnomAD
NECTIN1	Q15223	p.Arg101Trp	rs778904871	missense variant	-	NC_000011.10:g.119678544G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg101Gln	rs200181526	missense variant	-	NC_000011.10:g.119678543C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Pro102Leu	rs1477034078	missense variant	-	NC_000011.10:g.119678540G>A	gnomAD
NECTIN1	Q15223	p.Pro102Ser	rs770605139	missense variant	-	NC_000011.10:g.119678541G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr105Ser	rs748894133	missense variant	-	NC_000011.10:g.119678531G>C	ExAC,gnomAD
NECTIN1	Q15223	p.Asp106Asn	rs755800836	missense variant	-	NC_000011.10:g.119678529C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asp106Val	COSM1585440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678528T>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Thr108Ala	rs370234311	missense variant	-	NC_000011.10:g.119678523T>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ile109Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119678518G>C	NCI-TCGA
NECTIN1	Q15223	p.Arg110Cys	rs754922587	missense variant	-	NC_000011.10:g.119678517G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg110Gly	rs754922587	missense variant	-	NC_000011.10:g.119678517G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg110Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119678516C>G	NCI-TCGA
NECTIN1	Q15223	p.Arg110Leu	rs750571284	missense variant	-	NC_000011.10:g.119678516C>A	ExAC,gnomAD
NECTIN1	Q15223	p.Arg110His	rs750571284	missense variant	-	NC_000011.10:g.119678516C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Leu111Val	rs765359773	missense variant	-	NC_000011.10:g.119678514G>C	ExAC,gnomAD
NECTIN1	Q15223	p.Ser112Thr	rs547031791	missense variant	-	NC_000011.10:g.119678511A>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg113Cys	rs754046295	missense variant	-	NC_000011.10:g.119678508G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg113His	rs764371211	missense variant	-	NC_000011.10:g.119678507C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Glu115Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119678500C>A	NCI-TCGA
NECTIN1	Q15223	p.Glu115Gln	rs1172940047	missense variant	-	NC_000011.10:g.119678502C>G	TOPMed
NECTIN1	Q15223	p.Leu116Val	rs1400143140	missense variant	-	NC_000011.10:g.119678499G>C	TOPMed
NECTIN1	Q15223	p.Glu119Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.119678490C>A	NCI-TCGA
NECTIN1	Q15223	p.Glu119Gln	rs942435649	missense variant	-	NC_000011.10:g.119678490C>G	TOPMed,gnomAD
NECTIN1	Q15223	p.Gly120Cys	COSM1585442	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678487C>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Gly120Asp	rs1389313822	missense variant	-	NC_000011.10:g.119678486C>T	gnomAD
NECTIN1	Q15223	p.Ile123Leu	rs1286852226	missense variant	-	NC_000011.10:g.119678478T>G	TOPMed,gnomAD
NECTIN1	Q15223	p.Glu125Asp	rs146919951	missense variant	-	NC_000011.10:g.119678470C>G	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Glu125Lys	rs1163551430	missense variant	-	NC_000011.10:g.119678472C>T	gnomAD
NECTIN1	Q15223	p.Phe126Cys	rs773877827	missense variant	-	NC_000011.10:g.119678468A>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala127Thr	rs1182156868	missense variant	-	NC_000011.10:g.119678466C>T	gnomAD
NECTIN1	Q15223	p.Thr131Met	rs377427305	missense variant	-	NC_000011.10:g.119678453G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr131Lys	rs377427305	missense variant	-	NC_000011.10:g.119678453G>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr131Ala	rs199962982	missense variant	-	NC_000011.10:g.119678454T>C	1000Genomes,gnomAD
NECTIN1	Q15223	p.Gly132Asp	COSM3444214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119678450C>T	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Arg134Ter	rs769476648	stop gained	-	NC_000011.10:g.119678445G>A	ExAC,gnomAD
NECTIN1	Q15223	p.Arg134Gln	rs766374992	missense variant	-	NC_000011.10:g.119678444C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ser136Thr	rs781010097	missense variant	-	NC_000011.10:g.119678438C>G	ExAC,gnomAD
NECTIN1	Q15223	p.Leu138Phe	rs754894048	missense variant	-	NC_000011.10:g.119678433G>A	ExAC,gnomAD
NECTIN1	Q15223	p.Leu140Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119678427G>T	NCI-TCGA
NECTIN1	Q15223	p.Thr141Met	rs757477808	missense variant	-	NC_000011.10:g.119678423G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr141Arg	rs757477808	missense variant	-	NC_000011.10:g.119678423G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Met143Ile	rs371142221	missense variant	-	NC_000011.10:g.119678416C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala144Thr	rs374562515	missense variant	-	NC_000011.10:g.119678415C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asn148Ser	rs1208499285	missense variant	-	NC_000011.10:g.119677845T>C	gnomAD
NECTIN1	Q15223	p.Glu151Asp	rs1229255733	missense variant	-	NC_000011.10:g.119677835C>A	TOPMed
NECTIN1	Q15223	p.Gly152Asp	rs1442295865	missense variant	-	NC_000011.10:g.119677833C>T	gnomAD
NECTIN1	Q15223	p.Gly152Ser	rs766922259	missense variant	-	NC_000011.10:g.119677834C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Gly152Cys	rs766922259	missense variant	-	NC_000011.10:g.119677834C>A	ExAC,gnomAD
NECTIN1	Q15223	p.Thr153Ala	rs371651972	missense variant	-	NC_000011.10:g.119677831T>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr153Ile	COSM5999640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677830G>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Thr153Asn	rs1266843377	missense variant	-	NC_000011.10:g.119677830G>T	gnomAD
NECTIN1	Q15223	p.Arg158Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.119677816G>A	NCI-TCGA
NECTIN1	Q15223	p.Arg158Pro	rs776409528	missense variant	-	NC_000011.10:g.119677815C>G	ExAC,gnomAD
NECTIN1	Q15223	p.Arg158Gln	rs776409528	missense variant	-	NC_000011.10:g.119677815C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Ala159Asp	rs1202226205	missense variant	-	NC_000011.10:g.119677812G>T	gnomAD
NECTIN1	Q15223	p.Lys160Asn	rs145986556	missense variant	-	NC_000011.10:g.119677808C>G	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Lys161Asn	rs775391587	missense variant	-	NC_000011.10:g.119677805C>G	ExAC,gnomAD
NECTIN1	Q15223	p.Gly162Val	COSM6131605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677803C>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Gly162Glu	rs772163780	missense variant	-	NC_000011.10:g.119677803C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asp165Glu	rs745766165	missense variant	-	NC_000011.10:g.119677793G>T	ExAC,gnomAD
NECTIN1	Q15223	p.Lys166Gln	rs993819055	missense variant	-	NC_000011.10:g.119677792T>G	TOPMed,gnomAD
NECTIN1	Q15223	p.Thr171Ile	rs781538708	missense variant	-	NC_000011.10:g.119677776G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ser174Leu	COSM1133345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677767G>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Ala175Thr	rs1440512634	missense variant	-	NC_000011.10:g.119677765C>T	gnomAD
NECTIN1	Q15223	p.Asn176Ser	rs367791177	missense variant	-	NC_000011.10:g.119677761T>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ser181Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119677746C>A	NCI-TCGA
NECTIN1	Q15223	p.Trp185Ter	RCV000009532	nonsense	Orofacial cleft 7 (OFC7)	NC_000011.10:g.119677734C>T	ClinVar
NECTIN1	Q15223	p.Trp185Ter	RCV000009531	nonsense	Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)	NC_000011.10:g.119677734C>T	ClinVar
NECTIN1	Q15223	p.Trp185Ter	rs104894281	stop gained	Cleft lip/palate-ectodermal dysplasia syndrome (clped1)	NC_000011.10:g.119677734C>T	-
NECTIN1	Q15223	p.Glu186Ter	RCV000009533	frameshift	Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)	NC_000011.10:g.119677734del	ClinVar
NECTIN1	Q15223	p.Thr187Ile	rs1161494369	missense variant	-	NC_000011.10:g.119677728G>A	gnomAD
NECTIN1	Q15223	p.Thr187Ala	rs780356520	missense variant	-	NC_000011.10:g.119677729T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Arg188Gln	rs150389387	missense variant	-	NC_000011.10:g.119677725C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg188Gly	rs375316129	missense variant	-	NC_000011.10:g.119677726G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg188Trp	rs375316129	missense variant	-	NC_000011.10:g.119677726G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly191Val	rs1003809317	missense variant	-	NC_000011.10:g.119677716C>A	TOPMed
NECTIN1	Q15223	p.Gly191Asp	rs1003809317	missense variant	-	NC_000011.10:g.119677716C>T	TOPMed
NECTIN1	Q15223	p.Ala193Thr	rs925998059	missense variant	-	NC_000011.10:g.119677711C>T	TOPMed,gnomAD
NECTIN1	Q15223	p.Gln196Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.119677702G>A	NCI-TCGA
NECTIN1	Q15223	p.Gln196Lys	rs1283881042	missense variant	-	NC_000011.10:g.119677702G>T	TOPMed
NECTIN1	Q15223	p.Glu197Gly	COSM1585443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677698T>C	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Glu197Gln	rs775444391	missense variant	-	NC_000011.10:g.119677699C>G	ExAC,gnomAD
NECTIN1	Q15223	p.Glu197Asp	rs575394550	missense variant	-	NC_000011.10:g.119677697C>A	1000Genomes,ExAC,gnomAD
NECTIN1	Q15223	p.Ile198Thr	rs759400227	missense variant	-	NC_000011.10:g.119677695A>G	ExAC,gnomAD
NECTIN1	Q15223	p.Arg199Gln	rs78809001	missense variant	-	NC_000011.10:g.119677692C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg199Trp	rs372177799	missense variant	-	NC_000011.10:g.119677693G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asn200Asp	rs368738833	missense variant	-	NC_000011.10:g.119677690T>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asn202Asp	rs1342002768	missense variant	-	NC_000011.10:g.119677684T>C	TOPMed
NECTIN1	Q15223	p.Asn202Ser	rs143539245	missense variant	-	NC_000011.10:g.119677683T>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr206Met	rs140089588	missense variant	-	NC_000011.10:g.119677671G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val207Phe	rs1428698740	missense variant	-	NC_000011.10:g.119677669C>A	gnomAD
NECTIN1	Q15223	p.Ile208Asn	rs1363291418	missense variant	-	NC_000011.10:g.119677665A>T	TOPMed,gnomAD
NECTIN1	Q15223	p.Ser209Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119677662C>G	NCI-TCGA
NECTIN1	Q15223	p.Arg210His	rs142863092	missense variant	-	NC_000011.10:g.119677659C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg210Cys	rs780401118	missense variant	-	NC_000011.10:g.119677660G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg210Leu	rs142863092	missense variant	-	NC_000011.10:g.119677659C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg212Cys	rs578209664	missense variant	-	NC_000011.10:g.119677654G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg212Leu	rs142930935	missense variant	-	NC_000011.10:g.119677653C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg212His	rs142930935	missense variant	-	NC_000011.10:g.119677653C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ser216Gly	rs763644643	missense variant	-	NC_000011.10:g.119677642T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Arg217Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119677638C>A	NCI-TCGA
NECTIN1	Q15223	p.Arg217Thr	rs1485290152	missense variant	-	NC_000011.10:g.119677638C>G	gnomAD
NECTIN1	Q15223	p.Glu218Ala	rs1223057587	missense variant	-	NC_000011.10:g.119677635T>G	gnomAD
NECTIN1	Q15223	p.Glu218Lys	rs760413547	missense variant	-	NC_000011.10:g.119677636C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Ala219Ser	rs1258740865	missense variant	-	NC_000011.10:g.119677633C>A	TOPMed,gnomAD
NECTIN1	Q15223	p.Gln222Lys	rs752333781	missense variant	-	NC_000011.10:g.119677624G>T	ExAC,gnomAD
NECTIN1	Q15223	p.Ser223Phe	rs767278317	missense variant	-	NC_000011.10:g.119677620G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ser223Ala	rs1213633475	missense variant	-	NC_000011.10:g.119677621A>C	gnomAD
NECTIN1	Q15223	p.Leu224Phe	rs1430537138	missense variant	-	NC_000011.10:g.119677616C>A	TOPMed
NECTIN1	Q15223	p.Ala225Ser	rs759436378	missense variant	-	NC_000011.10:g.119677615C>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ile227Met	rs144781194	missense variant	-	NC_000011.10:g.119677607G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val228Leu	rs200513188	missense variant	-	NC_000011.10:g.119677606C>G	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val228Ile	rs200513188	missense variant	-	NC_000011.10:g.119677606C>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val228Phe	rs200513188	missense variant	-	NC_000011.10:g.119677606C>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Tyr230Cys	rs762761527	missense variant	-	NC_000011.10:g.119677599T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Met232Thr	rs776714103	missense variant	-	NC_000011.10:g.119677593A>G	ExAC,gnomAD
NECTIN1	Q15223	p.Asp233Gly	rs768666517	missense variant	-	NC_000011.10:g.119677590T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Asp233Glu	rs1163138049	missense variant	-	NC_000011.10:g.119677589G>C	gnomAD
NECTIN1	Q15223	p.Arg234Cys	rs747086699	missense variant	-	NC_000011.10:g.119677588G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg234Gly	rs747086699	missense variant	-	NC_000011.10:g.119677588G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg234His	rs772160830	missense variant	-	NC_000011.10:g.119677587C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg234Leu	rs772160830	missense variant	-	NC_000011.10:g.119677587C>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Leu241Phe	rs1189212659	missense variant	-	NC_000011.10:g.119677567G>A	gnomAD
NECTIN1	Q15223	p.Asn242Lys	rs149433037	missense variant	-	NC_000011.10:g.119677562G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val243Met	rs779104764	missense variant	-	NC_000011.10:g.119677561C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val243Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119677561C>G	NCI-TCGA
NECTIN1	Q15223	p.Gln244His	rs757802399	missense variant	-	NC_000011.10:g.119677556C>G	ExAC,gnomAD
NECTIN1	Q15223	p.Gln244Arg	rs909876037	missense variant	-	NC_000011.10:g.119677557T>C	TOPMed,gnomAD
NECTIN1	Q15223	p.Gln244Pro	rs909876037	missense variant	-	NC_000011.10:g.119677557T>G	TOPMed,gnomAD
NECTIN1	Q15223	p.Thr250Ile	rs1297056150	missense variant	-	NC_000011.10:g.119677204G>A	gnomAD
NECTIN1	Q15223	p.Ile251Thr	rs780528970	missense variant	-	NC_000011.10:g.119677201A>G	ExAC,gnomAD
NECTIN1	Q15223	p.Glu252Gln	rs1423496003	missense variant	-	NC_000011.10:g.119677199C>G	TOPMed
NECTIN1	Q15223	p.Gly253Glu	rs751116909	missense variant	-	NC_000011.10:g.119677195C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Phe254Ser	rs999824639	missense variant	-	NC_000011.10:g.119677192A>G	TOPMed
NECTIN1	Q15223	p.Phe254Tyr	rs999824639	missense variant	-	NC_000011.10:g.119677192A>T	TOPMed
NECTIN1	Q15223	p.Arg262Gln	rs758246210	missense variant	-	NC_000011.10:g.119677168C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg262Trp	rs766201739	missense variant	-	NC_000011.10:g.119677169G>A	ExAC,gnomAD
NECTIN1	Q15223	p.Met263Val	rs1369378629	missense variant	-	NC_000011.10:g.119677166T>C	TOPMed
NECTIN1	Q15223	p.Asp264Asn	rs1394055905	missense variant	-	NC_000011.10:g.119677163C>T	TOPMed,gnomAD
NECTIN1	Q15223	p.Asp264Glu	rs531328269	missense variant	-	NC_000011.10:g.119677161G>T	1000Genomes,ExAC,gnomAD
NECTIN1	Q15223	p.Val265Leu	rs140974611	missense variant	-	NC_000011.10:g.119677160C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val265Met	rs140974611	missense variant	-	NC_000011.10:g.119677160C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Lys266Arg	rs1428445812	missense variant	-	NC_000011.10:g.119677156T>C	gnomAD
NECTIN1	Q15223	p.Thr268Ala	rs775565748	missense variant	-	NC_000011.10:g.119677151T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Asp272Ala	rs767434565	missense variant	-	NC_000011.10:g.119677138T>G	ExAC,gnomAD
NECTIN1	Q15223	p.Ala273Gly	rs1364055926	missense variant	-	NC_000011.10:g.119677135G>C	gnomAD
NECTIN1	Q15223	p.Asn274Thr	rs759806079	missense variant	-	NC_000011.10:g.119677132T>G	ExAC,gnomAD
NECTIN1	Q15223	p.Asn274Lys	rs1310228081	missense variant	-	NC_000011.10:g.119677131G>T	TOPMed
NECTIN1	Q15223	p.Pro276Gln	rs1248851345	missense variant	-	NC_000011.10:g.119677126G>T	gnomAD
NECTIN1	Q15223	p.Pro276GlnPheSerTerUnkUnk	COSM1351893	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.119677126G>-	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Ala277Val	COSM4018566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119677123G>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Glu279Lys	rs191178069	missense variant	-	NC_000011.10:g.119677118C>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.His281Gln	rs1246612566	missense variant	-	NC_000011.10:g.119677110G>C	TOPMed
NECTIN1	Q15223	p.Thr283Asn	rs773684377	missense variant	-	NC_000011.10:g.119677105G>T	ExAC,gnomAD
NECTIN1	Q15223	p.Thr283Ala	rs1007995551	missense variant	-	NC_000011.10:g.119677106T>C	TOPMed,gnomAD
NECTIN1	Q15223	p.Thr284Met	rs373403317	missense variant	-	NC_000011.10:g.119677102G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asn286Lys	rs771733439	missense variant	-	NC_000011.10:g.119675304A>C	ExAC,TOPMed
NECTIN1	Q15223	p.Leu289Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119675297G>A	NCI-TCGA
NECTIN1	Q15223	p.Lys291Arg	rs529558141	missense variant	-	NC_000011.10:g.119675290T>C	1000Genomes,ExAC,gnomAD
NECTIN1	Q15223	p.Lys291Glu	rs778679413	missense variant	-	NC_000011.10:g.119675291T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Gly292Asp	rs372910894	missense variant	-	NC_000011.10:g.119675287C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly292Val	rs372910894	missense variant	-	NC_000011.10:g.119675287C>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala295Val	rs1476682909	missense variant	-	NC_000011.10:g.119675278G>A	gnomAD
NECTIN1	Q15223	p.Gln296His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119675274C>G	NCI-TCGA
NECTIN1	Q15223	p.Asn297Lys	rs751626384	missense variant	-	NC_000011.10:g.119675271G>C	ExAC,gnomAD
NECTIN1	Q15223	p.Arg298Gly	rs766521154	missense variant	-	NC_000011.10:g.119675270T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Leu300Phe	COSM1146595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119675264G>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Lys303Arg	rs1223483781	missense variant	-	NC_000011.10:g.119675254T>C	gnomAD
NECTIN1	Q15223	p.Gly304Arg	rs564530033	missense variant	-	NC_000011.10:g.119675252C>T	gnomAD
NECTIN1	Q15223	p.Ile306Thr	rs147357554	missense variant	-	NC_000011.10:g.119675245A>G	ESP,ExAC,TOPMed
NECTIN1	Q15223	p.Ile306Asn	rs147357554	missense variant	-	NC_000011.10:g.119675245A>T	ESP,ExAC,TOPMed
NECTIN1	Q15223	p.Asn307Lys	rs765552807	missense variant	-	NC_000011.10:g.119675241G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asn307Ser	rs1289324780	missense variant	-	NC_000011.10:g.119675242T>C	gnomAD
NECTIN1	Q15223	p.Ser309Arg	rs762132456	missense variant	-	NC_000011.10:g.119675235G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly312Glu	rs1184460783	missense variant	-	NC_000011.10:g.119675227C>T	TOPMed
NECTIN1	Q15223	p.Ile315Val	rs199876504	missense variant	-	NC_000011.10:g.119675219T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Pro321Ala	rs1303457029	missense variant	-	NC_000011.10:g.119675201G>C	gnomAD
NECTIN1	Q15223	p.Pro321Thr	rs1303457029	missense variant	-	NC_000011.10:g.119675201G>T	gnomAD
NECTIN1	Q15223	p.Ile322Met	rs774045034	missense variant	-	NC_000011.10:g.119675196G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ile322Leu	rs1363267011	missense variant	-	NC_000011.10:g.119675198T>G	gnomAD
NECTIN1	Q15223	p.Gly323Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119675195C>G	NCI-TCGA
NECTIN1	Q15223	p.Gly323Ser	rs930877255	missense variant	-	NC_000011.10:g.119675195C>T	TOPMed,gnomAD
NECTIN1	Q15223	p.Thr324Ter	RCV000009534	frameshift	Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)	NC_000011.10:g.119675193dup	ClinVar
NECTIN1	Q15223	p.Thr324Ile	rs1420902099	missense variant	-	NC_000011.10:g.119675191G>A	gnomAD
NECTIN1	Q15223	p.Arg325Cys	rs185201594	missense variant	-	NC_000011.10:g.119675189G>A	1000Genomes,ExAC,gnomAD
NECTIN1	Q15223	p.Arg325His	rs777589516	missense variant	-	NC_000011.10:g.119675188C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly327Ser	rs756032071	missense variant	-	NC_000011.10:g.119675183C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Gln328Ter	COSM3444202	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.119675180G>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Gln328Lys	rs1389408862	missense variant	-	NC_000011.10:g.119675180G>T	TOPMed
NECTIN1	Q15223	p.Glu330Lys	rs150553818	missense variant	-	NC_000011.10:g.119675174C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Glu330Lys	RCV000515092	missense variant	-	NC_000011.10:g.119675174C>T	ClinVar
NECTIN1	Q15223	p.Glu335Ter	rs780285405	stop gained	-	NC_000011.10:g.119675159C>A	ExAC,gnomAD
NECTIN1	Q15223	p.Phe336Leu	rs753093645	missense variant	-	NC_000011.10:g.119665295A>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr339Ile	rs1371157035	missense variant	-	NC_000011.10:g.119665285G>A	TOPMed,gnomAD
NECTIN1	Q15223	p.Pro340Leu	rs375956459	missense variant	-	NC_000011.10:g.119665282G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Pro340Gln	rs375956459	missense variant	-	NC_000011.10:g.119665282G>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ser341Phe	COSM686875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119665279G>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Pro342Ser	rs762583153	missense variant	-	NC_000011.10:g.119665277G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Pro343Arg	rs764971983	missense variant	-	NC_000011.10:g.119665273G>C	ExAC,gnomAD
NECTIN1	Q15223	p.Glu344Lys	rs141682403	missense variant	-	NC_000011.10:g.119665271C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.His345Asp	rs1320478790	missense variant	-	NC_000011.10:g.119665268G>C	gnomAD
NECTIN1	Q15223	p.His345Arg	rs1031773395	missense variant	-	NC_000011.10:g.119665267T>C	TOPMed,gnomAD
NECTIN1	Q15223	p.His345Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665268G>T	NCI-TCGA
NECTIN1	Q15223	p.Gly346Trp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665265C>A	NCI-TCGA
NECTIN1	Q15223	p.Arg347Trp	rs201959047	missense variant	-	NC_000011.10:g.119665262G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg347Gln	rs775551936	missense variant	-	NC_000011.10:g.119665261C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg348His	rs148045547	missense variant	-	NC_000011.10:g.119665258C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg348Cys	rs771878829	missense variant	-	NC_000011.10:g.119665259G>A	ExAC,gnomAD
NECTIN1	Q15223	p.Arg348Gly	rs771878829	missense variant	-	NC_000011.10:g.119665259G>C	ExAC,gnomAD
NECTIN1	Q15223	p.Ala349Val	rs573905161	missense variant	-	NC_000011.10:g.119665255G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala349Thr	rs1422472639	missense variant	-	NC_000011.10:g.119665256C>T	TOPMed,gnomAD
NECTIN1	Q15223	p.Ala349Gly	rs573905161	missense variant	-	NC_000011.10:g.119665255G>C	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly350Trp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665253C>A	NCI-TCGA
NECTIN1	Q15223	p.Gly350Arg	rs755314137	missense variant	-	NC_000011.10:g.119665253C>T	gnomAD
NECTIN1	Q15223	p.Pro351Gln	rs748315490	missense variant	-	NC_000011.10:g.119665249G>T	ExAC,gnomAD
NECTIN1	Q15223	p.Pro351Arg	rs748315490	missense variant	-	NC_000011.10:g.119665249G>C	ExAC,gnomAD
NECTIN1	Q15223	p.Pro351Leu	rs748315490	missense variant	-	NC_000011.10:g.119665249G>A	ExAC,gnomAD
NECTIN1	Q15223	p.Thr354Ser	rs368903682	missense variant	-	NC_000011.10:g.119665241T>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr354Met	rs755401864	missense variant	-	NC_000011.10:g.119665240G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala355Ser	rs1049886554	missense variant	-	NC_000011.10:g.119665238C>A	TOPMed,gnomAD
NECTIN1	Q15223	p.Ile357Thr	rs143530262	missense variant	-	NC_000011.10:g.119665231A>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly359Ser	rs1186900270	missense variant	-	NC_000011.10:g.119665226C>T	gnomAD
NECTIN1	Q15223	p.Val360Leu	rs758801522	missense variant	-	NC_000011.10:g.119665223C>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val360Met	rs758801522	missense variant	-	NC_000011.10:g.119665223C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala361Val	rs375945097	missense variant	-	NC_000011.10:g.119665219G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala361Thr	rs140410989	missense variant	-	NC_000011.10:g.119665220C>T	ESP,ExAC,gnomAD
NECTIN1	Q15223	p.Ser363Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665212G>C	NCI-TCGA
NECTIN1	Q15223	p.Ser363Gly	rs761560894	missense variant	-	NC_000011.10:g.119665214T>C	ExAC,gnomAD
NECTIN1	Q15223	p.Val367Met	rs763820994	missense variant	-	NC_000011.10:g.119665202C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Ile369Thr	rs760591595	missense variant	-	NC_000011.10:g.119665195A>G	ExAC,gnomAD
NECTIN1	Q15223	p.Val370Met	rs775114352	missense variant	-	NC_000011.10:g.119665193C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Gly372Ser	rs759345182	missense variant	-	NC_000011.10:g.119665187C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly372Ala	rs1246387414	missense variant	-	NC_000011.10:g.119665186C>G	TOPMed
NECTIN1	Q15223	p.Gly373Arg	rs769801756	missense variant	-	NC_000011.10:g.119665184C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Val375Leu	rs145005973	missense variant	-	NC_000011.10:g.119665178C>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val375Met	rs145005973	missense variant	-	NC_000011.10:g.119665178C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val376Leu	rs776896515	missense variant	-	NC_000011.10:g.119665175C>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala377Thr	rs768844647	missense variant	-	NC_000011.10:g.119665172C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala377Gly	rs369649445	missense variant	-	NC_000011.10:g.119665171G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala377Ser	rs768844647	missense variant	-	NC_000011.10:g.119665172C>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg379His	rs780243076	missense variant	-	NC_000011.10:g.119665165C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg379Cys	rs1324345974	missense variant	-	NC_000011.10:g.119665166G>A	TOPMed,gnomAD
NECTIN1	Q15223	p.Arg380Gln	rs1337699458	missense variant	-	NC_000011.10:g.119665162C>T	TOPMed,gnomAD
NECTIN1	Q15223	p.Arg380Gly	rs376335229	missense variant	-	NC_000011.10:g.119665163G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg380Trp	rs376335229	missense variant	-	NC_000011.10:g.119665163G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg381Leu	rs779558534	missense variant	-	NC_000011.10:g.119665159C>A	ExAC,gnomAD
NECTIN1	Q15223	p.Arg381Cys	rs746292708	missense variant	-	NC_000011.10:g.119665160G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg381His	rs779558534	missense variant	-	NC_000011.10:g.119665159C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Arg382Gln	rs371158952	missense variant	-	NC_000011.10:g.119665156C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg382Gly	rs753373250	missense variant	-	NC_000011.10:g.119665157G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg382Trp	rs753373250	missense variant	-	NC_000011.10:g.119665157G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Thr384Ile	rs1215797709	missense variant	-	NC_000011.10:g.119665150G>A	TOPMed
NECTIN1	Q15223	p.Lys386Thr	rs1225640386	missense variant	-	NC_000011.10:g.119665144T>G	TOPMed,gnomAD
NECTIN1	Q15223	p.Lys386Gln	rs759526300	missense variant	-	NC_000011.10:g.119665145T>G	ExAC,gnomAD
NECTIN1	Q15223	p.Gly387Asp	rs774224721	missense variant	-	NC_000011.10:g.119665141C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Thr391Asn	rs766290195	missense variant	-	NC_000011.10:g.119665129G>T	ExAC,gnomAD
NECTIN1	Q15223	p.Lys392Gln	rs1206107546	missense variant	-	NC_000011.10:g.119665127T>G	gnomAD
NECTIN1	Q15223	p.His394Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665120T>C	NCI-TCGA
NECTIN1	Q15223	p.Val395Met	rs141253617	missense variant	-	NC_000011.10:g.119665118C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly399Ser	rs1261500651	missense variant	-	NC_000011.10:g.119665106C>T	gnomAD
NECTIN1	Q15223	p.Gly399Ala	rs775926077	missense variant	-	NC_000011.10:g.119665105C>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Pro406Ser	rs1317159942	missense variant	-	NC_000011.10:g.119665085G>A	gnomAD
NECTIN1	Q15223	p.Gln407SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.119665082G>-	NCI-TCGA
NECTIN1	Q15223	p.Gln407His	rs746230243	missense variant	-	NC_000011.10:g.119665080C>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.His408Leu	rs1166706388	missense variant	-	NC_000011.10:g.119665078T>A	TOPMed
NECTIN1	Q15223	p.His409Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665075T>C	NCI-TCGA
NECTIN1	Q15223	p.His409Gln	rs368140971	missense variant	-	NC_000011.10:g.119665074G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Met412Val	rs1464967533	missense variant	-	NC_000011.10:g.119665067T>C	TOPMed
NECTIN1	Q15223	p.Asn415Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665057T>A	NCI-TCGA
NECTIN1	Q15223	p.Leu416Val	rs748837701	missense variant	-	NC_000011.10:g.119665055G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gln417Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665051T>C	NCI-TCGA
NECTIN1	Q15223	p.Pro419Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665045G>A	NCI-TCGA
NECTIN1	Q15223	p.Pro419Ser	rs955888310	missense variant	-	NC_000011.10:g.119665046G>A	TOPMed
NECTIN1	Q15223	p.Asp420Glu	rs758988270	missense variant	-	NC_000011.10:g.119665041G>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asp420Asn	rs755806347	missense variant	-	NC_000011.10:g.119665043C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Asp421Asn	rs754787860	missense variant	-	NC_000011.10:g.119665040C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Asp423Glu	rs751351358	missense variant	-	NC_000011.10:g.119665032G>T	ExAC,gnomAD
NECTIN1	Q15223	p.Asp423Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119665033T>C	NCI-TCGA
NECTIN1	Q15223	p.Asp423Glu	rs751351358	missense variant	-	NC_000011.10:g.119665032G>C	ExAC,gnomAD
NECTIN1	Q15223	p.Asp424Asn	rs766347296	missense variant	-	NC_000011.10:g.119665031C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Asp424His	rs766347296	missense variant	-	NC_000011.10:g.119665031C>G	ExAC,gnomAD
NECTIN1	Q15223	p.Glu425Lys	rs753939503	missense variant	-	NC_000011.10:g.119665028C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala428Ser	rs925747493	missense variant	-	NC_000011.10:g.119665019C>A	TOPMed,gnomAD
NECTIN1	Q15223	p.Gly429Ser	rs1197081462	missense variant	-	NC_000011.10:g.119665016C>T	TOPMed
NECTIN1	Q15223	p.Gly432Asp	rs764091726	missense variant	-	NC_000011.10:g.119665006C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Gly432Ser	rs1351701613	missense variant	-	NC_000011.10:g.119665007C>T	gnomAD
NECTIN1	Q15223	p.Tyr436Asp	rs1195665241	missense variant	-	NC_000011.10:g.119664995A>C	gnomAD
NECTIN1	Q15223	p.Tyr436Ter	rs775628224	stop gained	-	NC_000011.10:g.119664993A>C	ExAC,gnomAD
NECTIN1	Q15223	p.Tyr436Phe	rs760800557	missense variant	-	NC_000011.10:g.119664994T>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Tyr436Cys	rs760800557	missense variant	-	NC_000011.10:g.119664994T>C	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Glu437Lys	rs953788367	missense variant	-	NC_000011.10:g.119664992C>T	TOPMed
NECTIN1	Q15223	p.Glu437Lys	NCI-TCGA novel	insertion	-	NC_000011.10:g.119664989_119664990insCTT	NCI-TCGA
NECTIN1	Q15223	p.Glu441Asp	COSM3808570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.119664978C>A	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Glu443Lys	rs1317281415	missense variant	-	NC_000011.10:g.119664974C>T	gnomAD
NECTIN1	Q15223	p.Glu444Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664969C>A	NCI-TCGA
NECTIN1	Q15223	p.Glu444Lys	rs774814738	missense variant	-	NC_000011.10:g.119664971C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Glu444Gly	rs1366987801	missense variant	-	NC_000011.10:g.119664970T>C	gnomAD
NECTIN1	Q15223	p.Gly445Val	rs1410411832	missense variant	-	NC_000011.10:g.119664967C>A	TOPMed
NECTIN1	Q15223	p.Gly445Ser	rs539461545	missense variant	-	NC_000011.10:g.119664968C>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly446Ser	rs1373709791	missense variant	-	NC_000011.10:g.119664965C>T	TOPMed
NECTIN1	Q15223	p.Gly447Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664961C>A	NCI-TCGA
NECTIN1	Q15223	p.Gly448Glu	rs1161967717	missense variant	-	NC_000011.10:g.119664958C>T	gnomAD
NECTIN1	Q15223	p.Gly449Val	rs1028240170	missense variant	-	NC_000011.10:g.119664955C>A	TOPMed,gnomAD
NECTIN1	Q15223	p.Glu450Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664953C>G	NCI-TCGA
NECTIN1	Q15223	p.Glu450Lys	rs769256224	missense variant	-	NC_000011.10:g.119664953C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Arg451Cys	rs1225561970	missense variant	-	NC_000011.10:g.119664950G>A	TOPMed
NECTIN1	Q15223	p.Arg451Pro	rs747681440	missense variant	-	NC_000011.10:g.119664949C>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg451His	rs747681440	missense variant	-	NC_000011.10:g.119664949C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg451Leu	rs747681440	missense variant	-	NC_000011.10:g.119664949C>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly454Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664940C>T	NCI-TCGA
NECTIN1	Q15223	p.Gly455Ser	rs150020241	missense variant	-	NC_000011.10:g.119664938C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asp461Glu	rs140477415	missense variant	-	NC_000011.10:g.119664918G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Glu462Gln	rs779779190	missense variant	-	NC_000011.10:g.119664917C>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Glu462Lys	rs779779190	missense variant	-	NC_000011.10:g.119664917C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala464Thr	rs750423713	missense variant	-	NC_000011.10:g.119664911C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala464Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664910G>T	NCI-TCGA
NECTIN1	Q15223	p.Ala464Val	rs1216208557	missense variant	-	NC_000011.10:g.119664910G>A	gnomAD
NECTIN1	Q15223	p.Lys465Gln	rs765204093	missense variant	-	NC_000011.10:g.119664908T>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Lys465Arg	rs1475639621	missense variant	-	NC_000011.10:g.119664907T>C	TOPMed
NECTIN1	Q15223	p.Arg466Trp	rs760713461	missense variant	-	NC_000011.10:g.119664905G>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg466Gln	rs752790442	missense variant	-	NC_000011.10:g.119664904C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Pro467Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664902G>A	NCI-TCGA
NECTIN1	Q15223	p.Tyr468Ter	COSM3397473	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.119664897G>C	NCI-TCGA Cosmic
NECTIN1	Q15223	p.Val471Met	rs771356689	missense variant	-	NC_000011.10:g.119664890C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Val471Leu	rs771356689	missense variant	-	NC_000011.10:g.119664890C>A	ExAC,gnomAD
NECTIN1	Q15223	p.Asp472Glu	rs1174299090	missense variant	-	NC_000011.10:g.119664885A>T	TOPMed
NECTIN1	Q15223	p.Glu475Gln	rs371752868	missense variant	-	NC_000011.10:g.119664878C>G	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Glu475Lys	rs371752868	missense variant	-	NC_000011.10:g.119664878C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Ala476Thr	rs747655907	missense variant	-	NC_000011.10:g.119664875C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg477Cys	rs780717440	missense variant	-	NC_000011.10:g.119664872G>A	ExAC,gnomAD
NECTIN1	Q15223	p.Arg477His	rs768218183	missense variant	-	NC_000011.10:g.119664871C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asp479Glu	rs141036439	missense variant	-	NC_000011.10:g.119664864G>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly480Asp	rs1350597487	missense variant	-	NC_000011.10:g.119664862C>T	TOPMed
NECTIN1	Q15223	p.Gly480Ser	rs147334676	missense variant	-	NC_000011.10:g.119664863C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Tyr481Cys	rs528927625	missense variant	-	NC_000011.10:g.119664859T>C	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly482Arg	rs752740849	missense variant	-	NC_000011.10:g.119664857C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly482Arg	rs752740849	missense variant	-	NC_000011.10:g.119664857C>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asp483Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664854C>T	NCI-TCGA
NECTIN1	Q15223	p.Asp483Tyr	rs1222534764	missense variant	-	NC_000011.10:g.119664854C>A	gnomAD
NECTIN1	Q15223	p.Arg484Leu	rs767573357	missense variant	-	NC_000011.10:g.119664850C>A	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg484Gln	rs767573357	missense variant	-	NC_000011.10:g.119664850C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg484Pro	rs767573357	missense variant	-	NC_000011.10:g.119664850C>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Arg484Trp	rs914734911	missense variant	-	NC_000011.10:g.119664851G>A	TOPMed,gnomAD
NECTIN1	Q15223	p.Thr485Ala	rs1197822863	missense variant	-	NC_000011.10:g.119664848T>C	TOPMed
NECTIN1	Q15223	p.Leu486Val	rs1444761599	missense variant	-	NC_000011.10:g.119664845G>C	TOPMed,gnomAD
NECTIN1	Q15223	p.Asp491Asn	rs374643713	missense variant	-	NC_000011.10:g.119664830C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Glu493Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664824C>G	NCI-TCGA
NECTIN1	Q15223	p.Leu497Phe	rs549511537	missense variant	-	NC_000011.10:g.119664810C>A	1000Genomes,ExAC,gnomAD
NECTIN1	Q15223	p.Met501Ile	rs1423266236	missense variant	-	NC_000011.10:g.119664798C>T	gnomAD
NECTIN1	Q15223	p.Met501Val	rs1414132172	missense variant	-	NC_000011.10:g.119664800T>C	gnomAD
NECTIN1	Q15223	p.Met501Leu	rs1414132172	missense variant	-	NC_000011.10:g.119664800T>G	gnomAD
NECTIN1	Q15223	p.Ser503Pro	rs773684345	missense variant	-	NC_000011.10:g.119664794A>G	ExAC,gnomAD
NECTIN1	Q15223	p.Asp506His	rs776020561	missense variant	-	NC_000011.10:g.119664785C>G	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Asp506Asn	rs776020561	missense variant	-	NC_000011.10:g.119664785C>T	ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly507Arg	rs746506443	missense variant	-	NC_000011.10:g.119664782C>T	ExAC,gnomAD
NECTIN1	Q15223	p.Gly507Glu	rs202095358	missense variant	-	NC_000011.10:g.119664781C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Gly507Ala	rs202095358	missense variant	-	NC_000011.10:g.119664781C>G	ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Phe509Ser	rs1310109445	missense variant	-	NC_000011.10:g.119664775A>G	gnomAD
NECTIN1	Q15223	p.Lys513Arg	rs1015290207	missense variant	-	NC_000011.10:g.119664763T>C	TOPMed,gnomAD
NECTIN1	Q15223	p.Tyr516His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664755A>G	NCI-TCGA
NECTIN1	Q15223	p.Tyr516Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.119664754T>C	NCI-TCGA
NECTIN1	Q15223	p.Tyr516Ter	rs146113849	stop gained	-	NC_000011.10:g.119664753G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN1	Q15223	p.Val517Met	rs1378089244	missense variant	-	NC_000011.10:g.119664752C>T	gnomAD
NECTIN1	Q15223	p.Ter518TyrGluUnkThrTerUnk	NCI-TCGA novel	stop lost	-	NC_000011.10:g.119664747C>A	NCI-TCGA
NECTIN1	Q15223	p.Ter518Gln	rs1309218276	stop lost	-	NC_000011.10:g.119664749A>G	TOPMed
SHH	Q15465	p.Leu3Pro	rs1361754777	missense variant	-	NC_000007.14:g.155812115A>G	TOPMed,gnomAD
SHH	Q15465	p.Leu4Ter	RCV000056094	frameshift	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155812114_155812117dup	ClinVar
SHH	Q15465	p.Leu4Pro	rs1315816415	missense variant	-	NC_000007.14:g.155812112A>G	TOPMed,gnomAD
SHH	Q15465	p.Ala5Pro	rs1232748250	missense variant	-	NC_000007.14:g.155812110C>G	TOPMed
SHH	Q15465	p.Ala5Val	rs771163472	missense variant	-	NC_000007.14:g.155812109G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala5Glu	rs771163472	missense variant	-	NC_000007.14:g.155812109G>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Arg6Gly	rs1554495354	missense variant	-	NC_000007.14:g.155812107T>C	-
SHH	Q15465	p.Arg6Lys	rs1383042834	missense variant	-	NC_000007.14:g.155812106C>T	TOPMed,gnomAD
SHH	Q15465	p.Arg6Gly	RCV000519857	missense variant	-	NC_000007.14:g.155812107T>C	ClinVar
SHH	Q15465	p.Arg6Thr	VAR_023804	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Cys7Gly	rs761601401	missense variant	-	NC_000007.14:g.155812104A>C	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Cys7Tyr	rs774131404	missense variant	-	NC_000007.14:g.155812103C>T	ExAC,gnomAD
SHH	Q15465	p.Leu8Pro	rs938130628	missense variant	-	NC_000007.14:g.155812100A>G	TOPMed
SHH	Q15465	p.Leu9Val	rs748809006	missense variant	-	NC_000007.14:g.155812098G>C	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Leu12Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155812089G>T	NCI-TCGA
SHH	Q15465	p.Val13Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155812086C>T	NCI-TCGA
SHH	Q15465	p.Val13Leu	rs1257833374	missense variant	-	NC_000007.14:g.155812086C>G	TOPMed
SHH	Q15465	p.Val13Ter	RCV000056099	frameshift	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155812084_155812091del	ClinVar
SHH	Q15465	p.Ser14Phe	rs781079382	missense variant	-	NC_000007.14:g.155812082G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ser15Trp	rs760920236	missense variant	-	NC_000007.14:g.155812079G>C	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Leu17Pro	VAR_062592	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Val18Leu	rs148181557	missense variant	-	NC_000007.14:g.155812071C>A	ESP,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Val18Ile	COSM1449634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155812071C>T	NCI-TCGA Cosmic
SHH	Q15465	p.Cys19Trp	rs1220988741	missense variant	-	NC_000007.14:g.155812066G>C	TOPMed,gnomAD
SHH	Q15465	p.Gly21Glu	rs752787084	missense variant	-	NC_000007.14:g.155812061C>T	ExAC,gnomAD
SHH	Q15465	p.Ala23Val	rs1414297882	missense variant	-	NC_000007.14:g.155812055G>A	TOPMed
SHH	Q15465	p.Cys24Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155812053A>T	NCI-TCGA
SHH	Q15465	p.Pro26Leu	VAR_062593	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Gly27Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155812044C>T	NCI-TCGA
SHH	Q15465	p.Gly27Ala	VAR_039888	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Arg28Met	rs1348583518	missense variant	-	NC_000007.14:g.155812040C>A	gnomAD
SHH	Q15465	p.Arg28Ser	rs1085307689	missense variant	-	NC_000007.14:g.155812039C>A	-
SHH	Q15465	p.Arg28Ser	RCV000489667	missense variant	-	NC_000007.14:g.155812039C>A	ClinVar
SHH	Q15465	p.Gly29Ala	rs1313527438	missense variant	-	NC_000007.14:g.155812037C>G	TOPMed
SHH	Q15465	p.Gly29Arg	rs1443838383	missense variant	-	NC_000007.14:g.155812038C>T	gnomAD
SHH	Q15465	p.Phe30Val	rs755543334	missense variant	-	NC_000007.14:g.155812035A>C	ExAC,gnomAD
SHH	Q15465	p.Gly31Arg	rs28936675	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155812032C>T	-
SHH	Q15465	p.Gly31Arg	RCV000009427	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155812032C>T	ClinVar
SHH	Q15465	p.Lys32Glu	rs766818803	missense variant	-	NC_000007.14:g.155812029T>C	ExAC,gnomAD
SHH	Q15465	p.His35Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155812019T>C	NCI-TCGA
SHH	Q15465	p.Pro36Thr	rs1347345641	missense variant	-	NC_000007.14:g.155812017G>T	gnomAD
SHH	Q15465	p.Pro36Ala	rs1347345641	missense variant	-	NC_000007.14:g.155812017G>C	gnomAD
SHH	Q15465	p.Lys37GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.155812014_155812015insG	NCI-TCGA
SHH	Q15465	p.Lys37Asn	rs763849281	missense variant	-	NC_000007.14:g.155812012T>G	ExAC,gnomAD
SHH	Q15465	p.Lys37Gln	rs982760077	missense variant	-	NC_000007.14:g.155812014T>G	TOPMed,gnomAD
SHH	Q15465	p.Lys38Gln	rs1382069869	missense variant	-	NC_000007.14:g.155812011T>G	gnomAD
SHH	Q15465	p.Leu39Pro	rs1428916820	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155812007A>G	UniProt,dbSNP
SHH	Q15465	p.Leu39Pro	VAR_062594	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155812007A>G	UniProt
SHH	Q15465	p.Leu39Pro	rs1428916820	missense variant	-	NC_000007.14:g.155812007A>G	TOPMed
SHH	Q15465	p.Pro41His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155812001G>T	NCI-TCGA
SHH	Q15465	p.Ala43Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155811996C>T	NCI-TCGA
SHH	Q15465	p.Lys45SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.155811986_155811989TGCT>-	NCI-TCGA
SHH	Q15465	p.Phe47Cys	COSM1087867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155811983A>C	NCI-TCGA Cosmic
SHH	Q15465	p.Ile48Ter	RCV000585808	frameshift	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155811980del	ClinVar
SHH	Q15465	p.Val51Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155811972C>T	NCI-TCGA
SHH	Q15465	p.Glu53Lys	VAR_062595	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Lys54Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155811961C>G	NCI-TCGA
SHH	Q15465	p.Ala58Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155811951C>T	NCI-TCGA
SHH	Q15465	p.Arg61Ser	rs776420800	missense variant	-	NC_000007.14:g.155811940C>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ile66Met	rs770780673	missense variant	-	NC_000007.14:g.155811925G>C	ExAC,gnomAD
SHH	Q15465	p.Ser67Cys	rs143084050	missense variant	-	NC_000007.14:g.155811923G>C	ESP,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Asn69Ile	rs777486607	missense variant	-	NC_000007.14:g.155811917T>A	ExAC,gnomAD
SHH	Q15465	p.Ser70Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155811914G>T	NCI-TCGA
SHH	Q15465	p.Arg72Ter	rs779093031	stop gained	-	NC_000007.14:g.155811909G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Arg72Ter	RCV000656539	nonsense	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155811909G>A	ClinVar
SHH	Q15465	p.Phe73Val	rs549733107	missense variant	-	NC_000007.14:g.155811906A>C	1000Genomes
SHH	Q15465	p.Phe73Cys	COSM3431414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155811905A>C	NCI-TCGA Cosmic
SHH	Q15465	p.Glu75Gly	rs1443582059	missense variant	-	NC_000007.14:g.155811899T>C	TOPMed
SHH	Q15465	p.Glu75Lys	COSM3636699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155811900C>T	NCI-TCGA Cosmic
SHH	Q15465	p.Thr77Ser	rs1450594695	missense variant	-	NC_000007.14:g.155811894T>A	gnomAD
SHH	Q15465	p.Thr77Ile	rs1190580891	missense variant	-	NC_000007.14:g.155811893G>A	TOPMed
SHH	Q15465	p.Asn79Ser	rs754993269	missense variant	-	NC_000007.14:g.155811887T>C	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Asn81Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155811881T>C	NCI-TCGA
SHH	Q15465	p.Pro82Ser	rs527879586	missense variant	-	NC_000007.14:g.155811879G>A	1000Genomes,ExAC,gnomAD
SHH	Q15465	p.Asp83Asn	COSM1087866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155811876C>T	NCI-TCGA Cosmic
SHH	Q15465	p.Asp83Val	VAR_062596	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ile84Val	rs766797846	missense variant	-	NC_000007.14:g.155811873T>C	ExAC,gnomAD
SHH	Q15465	p.Ile84Phe	VAR_062597	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ile85Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155811870T>C	NCI-TCGA
SHH	Q15465	p.Asp88Asn	rs756628434	missense variant	-	NC_000007.14:g.155811861C>T	ExAC,gnomAD
SHH	Q15465	p.Asp88Val	RCV000009441	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155811860T>A	ClinVar
SHH	Q15465	p.Asp88Val	rs104894050	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155811860T>A	UniProt,dbSNP
SHH	Q15465	p.Asp88Val	VAR_009163	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155811860T>A	UniProt
SHH	Q15465	p.Asp88Val	rs104894050	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155811860T>A	-
SHH	Q15465	p.Glu89Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155811858C>T	NCI-TCGA
SHH	Q15465	p.Glu90Asp	COSM3879772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155811853T>G	NCI-TCGA Cosmic
SHH	Q15465	p.Asn91Asp	RCV000173080	missense variant	-	NC_000007.14:g.155811852T>C	ClinVar
SHH	Q15465	p.Asn91Asp	rs750835058	missense variant	-	NC_000007.14:g.155811852T>C	ExAC,gnomAD
SHH	Q15465	p.Gly93Arg	rs767953314	missense variant	-	NC_000007.14:g.155811846C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly93Ter	rs767953314	stop gained	-	NC_000007.14:g.155811846C>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala94Ser	rs1404934360	missense variant	-	NC_000007.14:g.155811843C>A	gnomAD
SHH	Q15465	p.Gln100Ter	RCV000009428	nonsense	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155811825G>A	ClinVar
SHH	Q15465	p.Gln100His	rs587778792	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155811823C>G	UniProt,dbSNP
SHH	Q15465	p.Gln100His	VAR_009164	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155811823C>G	UniProt
SHH	Q15465	p.Gln100His	rs587778792	missense variant	-	NC_000007.14:g.155811823C>G	-
SHH	Q15465	p.Gln100Ter	rs104894044	stop gained	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155811825G>A	-
SHH	Q15465	p.Gln100His	RCV000056105	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155811823C>G	ClinVar
SHH	Q15465	p.Cys102Tyr	VAR_062599	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Cys102Arg	VAR_062598	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Asp104Asn	rs778150858	missense variant	-	NC_000007.14:g.155806548C>T	ExAC,gnomAD
SHH	Q15465	p.Asp104Asn	rs778150858	missense variant	-	NC_000007.14:g.155806548C>T	NCI-TCGA
SHH	Q15465	p.Lys105Ter	rs104894045	stop gained	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155806545T>A	-
SHH	Q15465	p.Lys105Ter	RCV000009429	nonsense	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806545T>A	ClinVar
SHH	Q15465	p.Leu106_Asn107del	VAR_023805	inframe_deletion	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Leu109Phe	VAR_062600	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ala110Asp	VAR_023806	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ala110Thr	VAR_062601	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ile111Phe	rs104894049	missense variant	Solitary median maxillary central incisor (SMMCI)	NC_000007.14:g.155806527T>A	UniProt,dbSNP
SHH	Q15465	p.Ile111Phe	VAR_017883	missense variant	Solitary median maxillary central incisor (SMMCI)	NC_000007.14:g.155806527T>A	UniProt
SHH	Q15465	p.Ile111Phe	rs104894049	missense variant	-	NC_000007.14:g.155806527T>A	-
SHH	Q15465	p.Ile111Phe	RCV000009440	missense variant	Single median maxillary incisor (SMMCI)	NC_000007.14:g.155806527T>A	ClinVar
SHH	Q15465	p.Ile111Asn	VAR_039889	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ser112Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155806523G>A	NCI-TCGA
SHH	Q15465	p.Met114Ile	rs374053506	missense variant	-	NC_000007.14:g.155806516C>T	ESP,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Met114Ile	COSM1449633	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806516C>A	NCI-TCGA Cosmic
SHH	Q15465	p.Asn115Lys	rs267607047	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806513G>T	UniProt,dbSNP
SHH	Q15465	p.Asn115Lys	VAR_009165	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806513G>T	UniProt
SHH	Q15465	p.Asn115Lys	rs267607047	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155806513G>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Asn115Lys	RCV000009447	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806513G>T	ClinVar
SHH	Q15465	p.Trp117Gly	RCV000009430	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806509A>C	ClinVar
SHH	Q15465	p.Trp117Gly	rs104894040	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806509A>C	UniProt,dbSNP
SHH	Q15465	p.Trp117Gly	VAR_003620	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806509A>C	UniProt
SHH	Q15465	p.Trp117Gly	rs104894040	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155806509A>C	-
SHH	Q15465	p.Trp117Arg	RCV000009431	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806509A>G	ClinVar
SHH	Q15465	p.Trp117Arg	rs104894040	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155806509A>G	-
SHH	Q15465	p.Trp117Arg	rs104894040	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806509A>G	UniProt,dbSNP
SHH	Q15465	p.Trp117Arg	VAR_003621	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806509A>G	UniProt
SHH	Q15465	p.Pro118Leu	rs900719245	missense variant	-	NC_000007.14:g.155806505G>A	TOPMed
SHH	Q15465	p.Pro118Ser	rs1488553936	missense variant	-	NC_000007.14:g.155806506G>A	gnomAD
SHH	Q15465	p.Val120Met	rs761758062	missense variant	-	NC_000007.14:g.155806500C>T	ExAC
SHH	Q15465	p.Arg123Trp	COSM1087865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806491G>A	NCI-TCGA Cosmic
SHH	Q15465	p.Val124Met	VAR_062602	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Trp128Ter	RCV000009446	nonsense	Single median maxillary incisor (SMMCI)	NC_000007.14:g.155806475C>T	ClinVar
SHH	Q15465	p.Trp128Ter	RCV000009445	nonsense	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806475C>T	ClinVar
SHH	Q15465	p.Trp128Ter	rs104894053	stop gained	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155806475C>T	-
SHH	Q15465	p.Trp128Ter	RCV000263828	nonsense	-	NC_000007.14:g.155806475C>T	ClinVar
SHH	Q15465	p.Asp129Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155806473C>T	NCI-TCGA
SHH	Q15465	p.Gly132Ser	rs1167607952	missense variant	-	NC_000007.14:g.155806464C>T	gnomAD
SHH	Q15465	p.His133Tyr	rs768462874	missense variant	-	NC_000007.14:g.155806461G>A	ExAC,gnomAD
SHH	Q15465	p.Glu136Lys	VAR_062603	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ser138Phe	COSM3879771	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806445G>A	NCI-TCGA Cosmic
SHH	Q15465	p.His140Gln	VAR_039891	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.His140Pro	VAR_039890	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Tyr141Ter	rs763132615	stop gained	-	NC_000007.14:g.155806435G>T	ExAC,gnomAD
SHH	Q15465	p.Tyr141Ter	RCV000423361	nonsense	-	NC_000007.14:g.155806435G>T	ClinVar
SHH	Q15465	p.Tyr141Phe	rs1321772650	missense variant	-	NC_000007.14:g.155806436T>A	gnomAD
SHH	Q15465	p.Glu142Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155806432C>A	NCI-TCGA
SHH	Q15465	p.Gly143Asp	VAR_062604	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Arg144His	COSM3698295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806427C>T	NCI-TCGA Cosmic
SHH	Q15465	p.Arg144Pro	VAR_062605	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Val146Leu	rs1273765648	missense variant	-	NC_000007.14:g.155806422C>G	TOPMed
SHH	Q15465	p.Asp147Asn	VAR_062606	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ile148Leu	rs745948696	missense variant	-	NC_000007.14:g.155806416T>G	NCI-TCGA,NCI-TCGA Cosmic
SHH	Q15465	p.Ile148Leu	rs745948696	missense variant	-	NC_000007.14:g.155806416T>G	ExAC,gnomAD
SHH	Q15465	p.Thr150Met	COSM3879770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806409G>A	NCI-TCGA Cosmic
SHH	Q15465	p.Thr150Arg	VAR_023807	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Thr150Lys	VAR_062607	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Arg153Cys	rs1426923637	missense variant	-	NC_000007.14:g.155806401G>A	gnomAD
SHH	Q15465	p.Ser156Arg	RCV000656429	missense variant	Holoprosencephaly sequence (HPE)	NC_000007.14:g.155806390G>T	ClinVar
SHH	Q15465	p.Ser156Arg	rs1554494372	missense variant	-	NC_000007.14:g.155806390G>T	-
SHH	Q15465	p.Ser156Arg	rs1554494372	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806390G>T	UniProt,dbSNP
SHH	Q15465	p.Ser156Arg	VAR_062608	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806390G>T	UniProt
SHH	Q15465	p.Ser156Thr	rs1433670298	missense variant	-	NC_000007.14:g.155806391C>G	gnomAD
SHH	Q15465	p.Tyr158Ter	rs146990376	stop gained	-	NC_000007.14:g.155806384G>C	ESP,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Tyr158Ter	RCV000056117	nonsense	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806384G>C	ClinVar
SHH	Q15465	p.Gly159Ser	RCV000436561	missense variant	-	NC_000007.14:g.155806383C>T	ClinVar
SHH	Q15465	p.Gly159Ser	rs1057523055	missense variant	-	NC_000007.14:g.155806383C>T	gnomAD
SHH	Q15465	p.Met160Thr	rs747511798	missense variant	-	NC_000007.14:g.155806379A>G	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Arg163Leu	rs141313715	missense variant	-	NC_000007.14:g.155806370C>A	ESP,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Arg163His	rs141313715	missense variant	-	NC_000007.14:g.155806370C>T	NCI-TCGA
SHH	Q15465	p.Arg163His	rs141313715	missense variant	-	NC_000007.14:g.155806370C>T	ESP,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala165Ser	rs1307444084	missense variant	-	NC_000007.14:g.155806365C>A	gnomAD
SHH	Q15465	p.Val166Ala	rs749000450	missense variant	-	NC_000007.14:g.155806361A>G	ExAC
SHH	Q15465	p.Ala168Val	COSM1087864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806355G>A	NCI-TCGA Cosmic
SHH	Q15465	p.Gly169AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.155806354G>-	NCI-TCGA
SHH	Q15465	p.Phe170Cys	VAR_062609	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Asp171Asn	COSM2152129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806347C>T	NCI-TCGA Cosmic
SHH	Q15465	p.Asp171His	VAR_062610	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Tyr174Phe	rs1166053076	missense variant	-	NC_000007.14:g.155806337T>A	TOPMed
SHH	Q15465	p.Glu176Lys	COSM2152133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806332C>T	NCI-TCGA Cosmic
SHH	Q15465	p.Glu176_Lys178del	VAR_023808	inframe_deletion	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Lys178Arg	rs751492300	missense variant	-	NC_000007.14:g.155806325T>C	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Lys178Gln	rs757178896	missense variant	-	NC_000007.14:g.155806326T>G	ExAC,gnomAD
SHH	Q15465	p.Lys178Arg	rs751492300	missense variant	-	NC_000007.14:g.155806325T>C	NCI-TCGA,NCI-TCGA Cosmic
SHH	Q15465	p.Ile181Ser	rs1168154453	missense variant	-	NC_000007.14:g.155806316A>C	gnomAD
SHH	Q15465	p.Cys183Tyr	COSM3928944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806310C>T	NCI-TCGA Cosmic
SHH	Q15465	p.Cys183Phe	VAR_039892	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Cys183Arg	VAR_062611	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Cys183Tyr	VAR_062612	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ser184Leu	VAR_062613	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ala187Thr	COSM3636697	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155806299C>T	NCI-TCGA Cosmic
SHH	Q15465	p.Glu188Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155806296C>T	NCI-TCGA
SHH	Q15465	p.Glu188Gln	rs587778799	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806296C>G	UniProt,dbSNP
SHH	Q15465	p.Glu188Gln	VAR_009166	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806296C>G	UniProt
SHH	Q15465	p.Glu188Gln	rs587778799	missense variant	-	NC_000007.14:g.155806296C>G	-
SHH	Q15465	p.Glu188Gln	RCV000056121	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155806296C>G	ClinVar
SHH	Q15465	p.Ala193Ser	rs770421409	missense variant	-	NC_000007.14:g.155803712C>A	ExAC,gnomAD
SHH	Q15465	p.Ala193Thr	rs770421409	missense variant	-	NC_000007.14:g.155803712C>T	ExAC,gnomAD
SHH	Q15465	p.Lys194Gln	rs746540891	missense variant	-	NC_000007.14:g.155803709T>G	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly196Glu	rs752650571	missense variant	-	NC_000007.14:g.155803702C>T	ExAC,gnomAD
SHH	Q15465	p.Gly196Glu	rs752650571	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803702C>T	UniProt,dbSNP
SHH	Q15465	p.Gly196Glu	VAR_062615	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803702C>T	UniProt
SHH	Q15465	p.Gly196_Pro200del	VAR_062614	inframe_deletion	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Gly197Val	VAR_062616	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Cys198Arg	rs1131691989	missense variant	-	NC_000007.14:g.155803697A>G	-
SHH	Q15465	p.Cys198Arg	RCV000493736	missense variant	-	NC_000007.14:g.155803697A>G	ClinVar
SHH	Q15465	p.Cys198Ser	VAR_062618	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Cys198Phe	VAR_062617	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ser202Leu	rs1473100698	missense variant	-	NC_000007.14:g.155803684G>A	TOPMed,gnomAD
SHH	Q15465	p.Ala203Thr	rs1197824289	missense variant	-	NC_000007.14:g.155803682C>T	gnomAD
SHH	Q15465	p.Thr204Met	rs1053198748	missense variant	-	NC_000007.14:g.155803678G>A	TOPMed
SHH	Q15465	p.Glu208Gln	rs368283830	missense variant	-	NC_000007.14:g.155803667C>G	ESP,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gln209Glu	rs587778803	missense variant	-	NC_000007.14:g.155803664G>C	gnomAD
SHH	Q15465	p.Gln209His	rs754810872	missense variant	-	NC_000007.14:g.155803662C>G	ExAC,gnomAD
SHH	Q15465	p.Gln209Ter	rs587778803	stop gained	-	NC_000007.14:g.155803664G>A	gnomAD
SHH	Q15465	p.Gln209Ter	RCV000056128	nonsense	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803664G>A	ClinVar
SHH	Q15465	p.Gly210Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155803661C>T	NCI-TCGA
SHH	Q15465	p.Gly210Asp	RCV000656538	missense variant	Single median maxillary incisor (SMMCI)	NC_000007.14:g.155803660C>T	ClinVar
SHH	Q15465	p.Gly210Asp	rs1554493882	missense variant	-	NC_000007.14:g.155803660C>T	-
SHH	Q15465	p.Gly211Asp	rs1329526170	missense variant	-	NC_000007.14:g.155803657C>T	gnomAD
SHH	Q15465	p.Gly211Ser	rs1230001673	missense variant	-	NC_000007.14:g.155803658C>T	gnomAD
SHH	Q15465	p.Thr212Ile	rs766630931	missense variant	-	NC_000007.14:g.155803654G>A	ExAC,gnomAD
SHH	Q15465	p.Val215Met	rs767551681	missense variant	-	NC_000007.14:g.155803646C>T	ExAC,gnomAD
SHH	Q15465	p.Asp217Glu	rs1382331033	missense variant	-	NC_000007.14:g.155803638G>T	gnomAD
SHH	Q15465	p.Leu218Pro	VAR_062619	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ser219Arg	rs1157744913	missense variant	-	NC_000007.14:g.155803632G>T	TOPMed
SHH	Q15465	p.Pro220Arg	rs774823152	missense variant	-	NC_000007.14:g.155803630G>C	ExAC,gnomAD
SHH	Q15465	p.Gly221Glu	rs1428998445	missense variant	-	NC_000007.14:g.155803627C>T	gnomAD
SHH	Q15465	p.Gly221Arg	rs769075455	missense variant	-	NC_000007.14:g.155803628C>T	ExAC,gnomAD
SHH	Q15465	p.Asp222Asn	rs587778805	missense variant	-	NC_000007.14:g.155803625C>T	-
SHH	Q15465	p.Asp222Asn	rs587778805	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803625C>T	UniProt,dbSNP
SHH	Q15465	p.Asp222Asn	VAR_009167	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803625C>T	UniProt
SHH	Q15465	p.Asp222Asn	RCV000056132	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803625C>T	ClinVar
SHH	Q15465	p.Arg223His	rs1479285892	missense variant	-	NC_000007.14:g.155803621C>T	gnomAD
SHH	Q15465	p.Val224Glu	rs104894042	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803618A>T	UniProt,dbSNP
SHH	Q15465	p.Val224Glu	VAR_009168	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803618A>T	UniProt
SHH	Q15465	p.Val224Glu	rs104894042	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803618A>T	-
SHH	Q15465	p.Val224Glu	RCV000009432	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803618A>T	ClinVar
SHH	Q15465	p.Ala226Thr	RCV000009433	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803613C>T	ClinVar
SHH	Q15465	p.Ala226Thr	rs104894043	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803613C>T	UniProt,dbSNP
SHH	Q15465	p.Ala226Thr	VAR_009169	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803613C>T	UniProt
SHH	Q15465	p.Ala226Thr	rs104894043	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803613C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala226Glu	rs746603362	missense variant	-	NC_000007.14:g.155803612G>T	ExAC,gnomAD
SHH	Q15465	p.Asp228Asn	rs1465216365	missense variant	-	NC_000007.14:g.155803607C>T	gnomAD
SHH	Q15465	p.Asp228Gly	COSM485123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155803606T>C	NCI-TCGA Cosmic
SHH	Q15465	p.Asp229Tyr	rs771687521	missense variant	-	NC_000007.14:g.155803604C>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Asp229Asn	rs771687521	missense variant	-	NC_000007.14:g.155803604C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly231Val	VAR_062620	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Arg232Gly	rs1347054935	missense variant	-	NC_000007.14:g.155803595G>C	TOPMed,gnomAD
SHH	Q15465	p.Arg232Leu	rs1409337099	missense variant	-	NC_000007.14:g.155803594C>A	TOPMed
SHH	Q15465	p.Leu233Met	rs1275303437	missense variant	-	NC_000007.14:g.155803592G>T	gnomAD
SHH	Q15465	p.Leu234Pro	VAR_062622	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Tyr235Cys	rs748157342	missense variant	-	NC_000007.14:g.155803585T>C	ExAC,gnomAD
SHH	Q15465	p.Ser236Arg	rs587778806	missense variant	-	NC_000007.14:g.155803581G>T	gnomAD
SHH	Q15465	p.Ser236Arg	rs587778806	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803581G>T	UniProt,dbSNP
SHH	Q15465	p.Ser236Arg	VAR_009170	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803581G>T	UniProt
SHH	Q15465	p.Ser236Arg	RCV000056137	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803581G>T	ClinVar
SHH	Q15465	p.Ser236Asn	VAR_062623	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Asp237Asn	rs1435323420	missense variant	-	NC_000007.14:g.155803580C>T	gnomAD
SHH	Q15465	p.Phe241Val	VAR_062625	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Phe241Leu	VAR_062624	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Arg244Cys	COSM600490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155803559G>A	NCI-TCGA Cosmic
SHH	Q15465	p.Asp245Asn	rs553798627	missense variant	-	NC_000007.14:g.155803556C>T	1000Genomes,ExAC,gnomAD
SHH	Q15465	p.Asp246Gly	rs1416459058	missense variant	-	NC_000007.14:g.155803552T>C	gnomAD
SHH	Q15465	p.Lys249Arg	rs948650219	missense variant	-	NC_000007.14:g.155803543T>C	TOPMed,gnomAD
SHH	Q15465	p.Lys250Thr	rs780398556	missense variant	-	NC_000007.14:g.155803540T>G	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Val251Ile	rs756396169	missense variant	-	NC_000007.14:g.155803538C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Val251Phe	rs756396169	missense variant	-	NC_000007.14:g.155803538C>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ile255Leu	rs1554493839	missense variant	-	NC_000007.14:g.155803526T>G	-
SHH	Q15465	p.Ile255Leu	RCV000658464	missense variant	-	NC_000007.14:g.155803526T>G	ClinVar
SHH	Q15465	p.Ile255Asn	VAR_062626	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Glu256AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.155803512_155803522CTCCCGCGTCT>-	NCI-TCGA
SHH	Q15465	p.Glu256Ter	RCV000009443	nonsense	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803523C>A	ClinVar
SHH	Q15465	p.Glu256Asp	rs1484235320	missense variant	-	NC_000007.14:g.155803521C>G	gnomAD
SHH	Q15465	p.Glu256Gln	rs104894051	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803523C>G	gnomAD
SHH	Q15465	p.Glu256Ter	rs104894051	stop gained	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803523C>A	gnomAD
SHH	Q15465	p.Glu259Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155803514C>T	NCI-TCGA
SHH	Q15465	p.Glu259Gln	rs1201542449	missense variant	-	NC_000007.14:g.155803514C>G	gnomAD
SHH	Q15465	p.Arg261Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155803508G>A	NCI-TCGA
SHH	Q15465	p.Arg261His	rs761875928	missense variant	-	NC_000007.14:g.155803507C>T	ExAC,gnomAD
SHH	Q15465	p.Arg263_Ala269del	VAR_009171	inframe_deletion	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Leu266Phe	RCV000656537	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803493G>A	ClinVar
SHH	Q15465	p.Leu266Ile	rs1420292012	missense variant	-	NC_000007.14:g.155803493G>T	TOPMed
SHH	Q15465	p.Leu266Phe	rs1420292012	missense variant	-	NC_000007.14:g.155803493G>A	TOPMed
SHH	Q15465	p.Thr267Ile	VAR_039893	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Leu271Val	rs571216237	missense variant	-	NC_000007.14:g.155803478G>C	1000Genomes,ExAC,gnomAD
SHH	Q15465	p.Leu271Pro	VAR_023809	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Val274Leu	rs756468008	missense variant	-	NC_000007.14:g.155803469C>G	TOPMed
SHH	Q15465	p.Ala275Glu	rs556192490	missense variant	-	NC_000007.14:g.155803465G>T	1000Genomes,ExAC,gnomAD
SHH	Q15465	p.Ala275Glu	rs556192490	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803465G>T	UniProt,dbSNP
SHH	Q15465	p.Ala275Glu	VAR_062627	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803465G>T	UniProt
SHH	Q15465	p.Ala275Val	rs556192490	missense variant	-	NC_000007.14:g.155803465G>A	1000Genomes,ExAC,gnomAD
SHH	Q15465	p.Asn278Asp	rs1408712267	missense variant	-	NC_000007.14:g.155803457T>C	gnomAD
SHH	Q15465	p.Asp279Gly	rs1169319755	missense variant	-	NC_000007.14:g.155803453T>C	gnomAD
SHH	Q15465	p.Ser280Pro	rs1424023440	missense variant	-	NC_000007.14:g.155803451A>G	gnomAD
SHH	Q15465	p.Ser280Trp	VAR_062628	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ala281Gly	rs760427181	missense variant	-	NC_000007.14:g.155803447G>C	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala281Asp	rs760427181	missense variant	-	NC_000007.14:g.155803447G>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala281Thr	rs919034289	missense variant	-	NC_000007.14:g.155803448C>T	TOPMed,gnomAD
SHH	Q15465	p.Thr282Ser	rs1237806017	missense variant	-	NC_000007.14:g.155803444G>C	gnomAD
SHH	Q15465	p.Gly283Trp	rs921945144	missense variant	-	NC_000007.14:g.155803442C>A	TOPMed,gnomAD
SHH	Q15465	p.Gly283Arg	rs921945144	missense variant	-	NC_000007.14:g.155803442C>G	TOPMed,gnomAD
SHH	Q15465	p.Gly283Ala	rs772986847	missense variant	-	NC_000007.14:g.155803441C>G	ExAC
SHH	Q15465	p.Glu284Ter	rs104894046	stop gained	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803439C>A	ExAC,gnomAD
SHH	Q15465	p.Glu284Ter	RCV000551543	frameshift	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803417_155803439del	ClinVar
SHH	Q15465	p.Glu284Ter	RCV000009435	nonsense	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803439C>A	ClinVar
SHH	Q15465	p.Glu284Lys	rs104894046	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803439C>T	ExAC,gnomAD
SHH	Q15465	p.Pro285Ser	rs747668656	missense variant	-	NC_000007.14:g.155803436G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Pro285Ala	rs747668656	missense variant	-	NC_000007.14:g.155803436G>C	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Pro285Ser	RCV000177007	missense variant	-	NC_000007.14:g.155803436G>A	ClinVar
SHH	Q15465	p.Ala287Glu	rs1312880110	missense variant	-	NC_000007.14:g.155803429G>T	gnomAD
SHH	Q15465	p.Ser288Tyr	rs773945644	missense variant	-	NC_000007.14:g.155803426G>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ser288Phe	rs773945644	missense variant	-	NC_000007.14:g.155803426G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ser288Tyr	RCV000488988	missense variant	-	NC_000007.14:g.155803426G>T	ClinVar
SHH	Q15465	p.Ser289Ter	RCV000494194	nonsense	-	NC_000007.14:g.155803423G>T	ClinVar
SHH	Q15465	p.Ser289Ter	rs1131691966	stop gained	-	NC_000007.14:g.155803423G>T	-
SHH	Q15465	p.Gly290Asp	RCV000713269	missense variant	-	NC_000007.14:g.155803420C>T	ClinVar
SHH	Q15465	p.Gly290Asp	rs104894047	missense variant	-	NC_000007.14:g.155803420C>T	1000Genomes,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly290Asp	rs104894047	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803420C>T	UniProt,dbSNP
SHH	Q15465	p.Gly290Asp	VAR_009172	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803420C>T	UniProt
SHH	Q15465	p.Gly290Asp	rs104894047	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803420C>T	1000Genomes,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly290Ser	rs1352873388	missense variant	-	NC_000007.14:g.155803421C>T	gnomAD
SHH	Q15465	p.Gly290Cys	rs1352873388	missense variant	-	NC_000007.14:g.155803421C>A	gnomAD
SHH	Q15465	p.Gly292Arg	rs908886937	missense variant	-	NC_000007.14:g.155803415C>T	TOPMed
SHH	Q15465	p.Pro293Arg	rs954297514	missense variant	-	NC_000007.14:g.155803411G>C	TOPMed,gnomAD
SHH	Q15465	p.Pro293Ser	rs779943993	missense variant	-	NC_000007.14:g.155803412G>A	ExAC,gnomAD
SHH	Q15465	p.Pro293Gln	rs954297514	missense variant	-	NC_000007.14:g.155803411G>T	TOPMed,gnomAD
SHH	Q15465	p.Gly296Ala	rs955894039	missense variant	-	NC_000007.14:g.155803402C>G	TOPMed,gnomAD
SHH	Q15465	p.Gly297Val	rs781396056	missense variant	-	NC_000007.14:g.155803399C>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly297Asp	rs781396056	missense variant	-	NC_000007.14:g.155803399C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala298Ser	rs757410101	missense variant	-	NC_000007.14:g.155803397C>A	ExAC,gnomAD
SHH	Q15465	p.Gly300Trp	rs1223393226	missense variant	-	NC_000007.14:g.155803391C>A	gnomAD
SHH	Q15465	p.Arg302Gln	rs1302309857	missense variant	-	NC_000007.14:g.155803384C>T	TOPMed
SHH	Q15465	p.Arg302Trp	rs1283037971	missense variant	-	NC_000007.14:g.155803385G>A	gnomAD
SHH	Q15465	p.Leu304Met	rs758984446	missense variant	-	NC_000007.14:g.155803379G>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala306Pro	rs537257011	missense variant	-	NC_000007.14:g.155803373C>G	gnomAD
SHH	Q15465	p.Ala306Ser	rs537257011	missense variant	-	NC_000007.14:g.155803373C>A	gnomAD
SHH	Q15465	p.Ser307Arg	rs1223400037	missense variant	-	NC_000007.14:g.155803368G>T	gnomAD
SHH	Q15465	p.Arg308Cys	rs1343790066	missense variant	-	NC_000007.14:g.155803367G>A	gnomAD
SHH	Q15465	p.Val309Leu	rs1295346929	missense variant	-	NC_000007.14:g.155803364C>A	gnomAD
SHH	Q15465	p.Arg310Cys	VAR_062630	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Arg314Ser	rs1455460727	missense variant	-	NC_000007.14:g.155803349G>T	TOPMed,gnomAD
SHH	Q15465	p.Glu320Lys	rs1159911756	missense variant	-	NC_000007.14:g.155803331C>T	gnomAD
SHH	Q15465	p.Arg321Ser	VAR_062631	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Asp322Asn	rs1480063398	missense variant	-	NC_000007.14:g.155803325C>T	gnomAD
SHH	Q15465	p.Asp322Glu	rs1422908199	missense variant	-	NC_000007.14:g.155803323G>T	TOPMed,gnomAD
SHH	Q15465	p.Asp322Asn	RCV000538559	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803325C>T	ClinVar
SHH	Q15465	p.Arg325His	rs1254894267	missense variant	-	NC_000007.14:g.155803315C>T	TOPMed
SHH	Q15465	p.Leu327Val	rs777071239	missense variant	-	NC_000007.14:g.155803310G>C	ExAC,gnomAD
SHH	Q15465	p.Pro329Thr	rs1205186805	missense variant	-	NC_000007.14:g.155803304G>T	TOPMed
SHH	Q15465	p.Ala330Val	RCV000352030	missense variant	-	NC_000007.14:g.155803300G>A	ClinVar
SHH	Q15465	p.Ala330Val	rs886043421	missense variant	-	NC_000007.14:g.155803300G>A	TOPMed,gnomAD
SHH	Q15465	p.Ala331Val	rs761511825	missense variant	-	NC_000007.14:g.155803297G>A	ExAC,gnomAD
SHH	Q15465	p.Val332Ala	RCV000009444	missense variant	Single median maxillary incisor (SMMCI)	NC_000007.14:g.155803294A>G	ClinVar
SHH	Q15465	p.Val332Ala	rs104894052	missense variant	Solitary median maxillary central incisor (SMMCI)	NC_000007.14:g.155803294A>G	UniProt,dbSNP
SHH	Q15465	p.Val332Ala	VAR_023810	missense variant	Solitary median maxillary central incisor (SMMCI)	NC_000007.14:g.155803294A>G	UniProt
SHH	Q15465	p.Val332Ala	rs104894052	missense variant	-	NC_000007.14:g.155803294A>G	-
SHH	Q15465	p.Val332Met	rs1223500145	missense variant	-	NC_000007.14:g.155803295C>T	gnomAD
SHH	Q15465	p.His333Arg	rs1303961828	missense variant	-	NC_000007.14:g.155803291T>C	gnomAD
SHH	Q15465	p.His333Tyr	rs1411953628	missense variant	-	NC_000007.14:g.155803292G>A	gnomAD
SHH	Q15465	p.Ser334Gly	rs1219916703	missense variant	-	NC_000007.14:g.155803289T>C	gnomAD
SHH	Q15465	p.Thr336Asn	rs1160486091	missense variant	-	NC_000007.14:g.155803282G>T	TOPMed,gnomAD
SHH	Q15465	p.Thr336Ile	rs1160486091	missense variant	-	NC_000007.14:g.155803282G>A	TOPMed,gnomAD
SHH	Q15465	p.Glu339Gln	rs1268684973	missense variant	-	NC_000007.14:g.155803274C>G	gnomAD
SHH	Q15465	p.Glu340Gly	rs1437549012	missense variant	-	NC_000007.14:g.155803270T>C	gnomAD
SHH	Q15465	p.Glu340Ter	RCV000733832	nonsense	-	NC_000007.14:g.155803271C>A	ClinVar
SHH	Q15465	p.Ala342Thr	rs1320997216	missense variant	-	NC_000007.14:g.155803265C>T	gnomAD
SHH	Q15465	p.Ala342Val	rs1469041426	missense variant	-	NC_000007.14:g.155803264G>A	gnomAD
SHH	Q15465	p.Gly343Asp	rs1057518056	missense variant	-	NC_000007.14:g.155803261C>T	-
SHH	Q15465	p.Gly343Asp	RCV000414014	missense variant	-	NC_000007.14:g.155803261C>T	ClinVar
SHH	Q15465	p.Ala344Ser	rs774041298	missense variant	-	NC_000007.14:g.155803259C>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala344Thr	rs774041298	missense variant	-	NC_000007.14:g.155803259C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Tyr345His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155803256A>G	NCI-TCGA
SHH	Q15465	p.Ala346Val	VAR_062632	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Pro347Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155803250G>A	NCI-TCGA
SHH	Q15465	p.Pro347Leu	RCV000656532	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803249G>A	ClinVar
SHH	Q15465	p.Pro347Arg	RCV000391488	missense variant	-	NC_000007.14:g.155803249G>C	ClinVar
SHH	Q15465	p.Pro347Arg	rs886042458	missense variant	-	NC_000007.14:g.155803249G>C	-
SHH	Q15465	p.Pro347Leu	rs886042458	missense variant	-	NC_000007.14:g.155803249G>A	-
SHH	Q15465	p.Pro347Gln	VAR_023811	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Pro347Leu	VAR_062633	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Thr349Met	rs1186355512	missense variant	-	NC_000007.14:g.155803243G>A	gnomAD
SHH	Q15465	p.Ala350Thr	rs768025752	missense variant	-	NC_000007.14:g.155803241C>T	ExAC,gnomAD
SHH	Q15465	p.Ile354Val	rs1057524243	missense variant	-	NC_000007.14:g.155803229T>C	TOPMed
SHH	Q15465	p.Ile354Val	RCV000422969	missense variant	-	NC_000007.14:g.155803229T>C	ClinVar
SHH	Q15465	p.Ile354Thr	VAR_023812	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Leu355Val	rs749302937	missense variant	-	NC_000007.14:g.155803226G>C	ExAC,gnomAD
SHH	Q15465	p.Asn357Asp	rs1258305758	missense variant	-	NC_000007.14:g.155803220T>C	gnomAD
SHH	Q15465	p.Arg358Trp	rs775282587	missense variant	-	NC_000007.14:g.155803217G>A	ExAC,gnomAD
SHH	Q15465	p.Val359Met	rs769705330	missense variant	-	NC_000007.14:g.155803214C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala361Thr	rs780916336	missense variant	-	NC_000007.14:g.155803208C>T	ExAC,gnomAD
SHH	Q15465	p.Ala361Val	rs757501714	missense variant	-	NC_000007.14:g.155803207G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ser362Leu	VAR_062635	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Cys363Tyr	VAR_062636	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Tyr364Cys	VAR_062637	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ile367Met	rs758397120	missense variant	-	NC_000007.14:g.155803188G>C	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ile367Met	RCV000490072	missense variant	-	NC_000007.14:g.155803188G>C	ClinVar
SHH	Q15465	p.Glu368Lys	rs753315599	missense variant	-	NC_000007.14:g.155803187C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Glu368Lys	RCV000724104	missense variant	-	NC_000007.14:g.155803187C>T	ClinVar
SHH	Q15465	p.His370Gln	rs779295444	missense variant	-	NC_000007.14:g.155803179G>T	ExAC,gnomAD
SHH	Q15465	p.Trp372Ter	rs1554493722	stop gained	-	NC_000007.14:g.155803173C>T	-
SHH	Q15465	p.Trp372Ter	RCV000627362	nonsense	-	NC_000007.14:g.155803173C>T	ClinVar
SHH	Q15465	p.Trp372Arg	rs1265911355	missense variant	-	NC_000007.14:g.155803175A>G	TOPMed
SHH	Q15465	p.Ala373Thr	VAR_039894	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.His374Arg	VAR_062638	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Arg375Trp	rs755458166	missense variant	-	NC_000007.14:g.155803166G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala376Asp	VAR_062639	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Phe377Ser	VAR_062640	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ala378Thr	rs1258661873	missense variant	-	NC_000007.14:g.155803157C>T	gnomAD
SHH	Q15465	p.Ala378_Phe380del	VAR_009173	inframe_deletion	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Pro379Ala	rs1217044325	missense variant	-	NC_000007.14:g.155803154G>C	TOPMed
SHH	Q15465	p.Arg381Pro	VAR_023813	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Leu382Pro	VAR_062641	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ala383Thr	RCV000662213	missense variant	Microphthalmia, isolated, with coloboma 5 (MCOPCB5)	NC_000007.14:g.155803142C>T	ClinVar
SHH	Q15465	p.Ala383Thr	rs137853341	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803142C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala383Thr	rs137853341	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803142C>T	UniProt,dbSNP
SHH	Q15465	p.Ala383Thr	VAR_009174	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803142C>T	UniProt
SHH	Q15465	p.Ala383Val	rs1487677450	missense variant	-	NC_000007.14:g.155803141G>A	TOPMed
SHH	Q15465	p.Ala383Thr	RCV000662214	missense variant	Single median maxillary incisor (SMMCI)	NC_000007.14:g.155803142C>T	ClinVar
SHH	Q15465	p.Ala383Thr	RCV000009436	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803142C>T	ClinVar
SHH	Q15465	p.Ala383Thr	RCV000662212	missense variant	SCHIZENCEPHALY	NC_000007.14:g.155803142C>T	ClinVar
SHH	Q15465	p.Ala385Val	rs1206969036	missense variant	-	NC_000007.14:g.155803135G>A	gnomAD
SHH	Q15465	p.Leu386Val	rs1207422717	missense variant	-	NC_000007.14:g.155803133G>C	gnomAD
SHH	Q15465	p.Leu386Ile	rs1207422717	missense variant	-	NC_000007.14:g.155803133G>T	gnomAD
SHH	Q15465	p.Ala388Thr	rs1157004951	missense variant	-	NC_000007.14:g.155803127C>T	TOPMed
SHH	Q15465	p.Ala388Ser	rs1157004951	missense variant	-	NC_000007.14:g.155803127C>A	TOPMed
SHH	Q15465	p.Leu390Val	rs1267430441	missense variant	-	NC_000007.14:g.155803121G>C	gnomAD
SHH	Q15465	p.Ala391Thr	RCV000495992	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803118C>T	ClinVar
SHH	Q15465	p.Ala391Thr	rs1131692264	missense variant	-	NC_000007.14:g.155803118C>T	-
SHH	Q15465	p.Ala393Gly	rs751239867	missense variant	-	NC_000007.14:g.155803111G>C	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala393Val	rs751239867	missense variant	-	NC_000007.14:g.155803111G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Arg394His	rs551809680	missense variant	-	NC_000007.14:g.155803108C>T	1000Genomes,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Arg394Cys	rs953013478	missense variant	-	NC_000007.14:g.155803109G>A	TOPMed,gnomAD
SHH	Q15465	p.Arg394Leu	rs551809680	missense variant	-	NC_000007.14:g.155803108C>A	1000Genomes,ExAC,TOPMed,gnomAD
SHH	Q15465	p.Arg394His	RCV000384125	missense variant	-	NC_000007.14:g.155803108C>T	ClinVar
SHH	Q15465	p.Arg394His	RCV000622721	missense variant	Inborn genetic diseases	NC_000007.14:g.155803108C>T	ClinVar
SHH	Q15465	p.Asp396His	rs762371624	missense variant	-	NC_000007.14:g.155803103C>G	ExAC,gnomAD
SHH	Q15465	p.Asp396Glu	rs1346047832	missense variant	-	NC_000007.14:g.155803101G>C	TOPMed
SHH	Q15465	p.Arg397Cys	rs1306061587	missense variant	-	NC_000007.14:g.155803100G>A	TOPMed,gnomAD
SHH	Q15465	p.Gly399Glu	rs1370608867	missense variant	-	NC_000007.14:g.155803093C>T	TOPMed,gnomAD
SHH	Q15465	p.Gly399Arg	rs977002510	missense variant	-	NC_000007.14:g.155803094C>T	TOPMed,gnomAD
SHH	Q15465	p.Asp400Val	rs1395203013	missense variant	-	NC_000007.14:g.155803090T>A	TOPMed,gnomAD
SHH	Q15465	p.Asp400Gly	rs1395203013	missense variant	-	NC_000007.14:g.155803090T>C	TOPMed,gnomAD
SHH	Q15465	p.Ser401Arg	rs1293200150	missense variant	-	NC_000007.14:g.155803088T>G	TOPMed
SHH	Q15465	p.Ser401Asn	rs1490973950	missense variant	-	NC_000007.14:g.155803087C>T	TOPMed
SHH	Q15465	p.Ser401_Gly408del	VAR_017884	inframe_deletion	-	-	UniProt
SHH	Q15465	p.Gly402Arg	rs965978207	missense variant	-	NC_000007.14:g.155803085C>G	TOPMed,gnomAD
SHH	Q15465	p.Gly402_Gly409del	VAR_062643	inframe_deletion	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Gly403Val	rs1432283779	missense variant	-	NC_000007.14:g.155803081C>A	gnomAD
SHH	Q15465	p.Gly403Ser	rs1470519977	missense variant	-	NC_000007.14:g.155803082C>T	TOPMed
SHH	Q15465	p.Gly404Glu	rs1162576975	missense variant	-	NC_000007.14:g.155803078C>T	TOPMed,gnomAD
SHH	Q15465	p.Gly404_Gly408del	VAR_009175	inframe_deletion	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Asp405His	rs1411845751	missense variant	-	NC_000007.14:g.155803076C>G	TOPMed
SHH	Q15465	p.Asp405Gly	rs1403447576	missense variant	-	NC_000007.14:g.155803075T>C	TOPMed
SHH	Q15465	p.Asp405_Gly409del	VAR_062644	inframe_deletion	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Arg406His	rs1321845312	missense variant	-	NC_000007.14:g.155803072C>T	TOPMed,gnomAD
SHH	Q15465	p.Gly407Arg	rs1369784245	missense variant	-	NC_000007.14:g.155803070C>T	gnomAD
SHH	Q15465	p.Gly407Glu	rs775005701	missense variant	-	NC_000007.14:g.155803069C>T	ExAC,TOPMed
SHH	Q15465	p.Gly408Asp	rs1306050529	missense variant	-	NC_000007.14:g.155803066C>T	TOPMed
SHH	Q15465	p.Gly409Asp	rs1418825294	missense variant	-	NC_000007.14:g.155803063C>T	TOPMed,gnomAD
SHH	Q15465	p.Gly411Asp	rs1483446684	missense variant	-	NC_000007.14:g.155803057C>T	gnomAD
SHH	Q15465	p.Gly411Ser	rs776450525	missense variant	-	NC_000007.14:g.155803058C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly411Arg	rs776450525	missense variant	-	NC_000007.14:g.155803058C>G	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly411insGlyGly	VAR_062645	duplication	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Arg412Gly	rs770690981	missense variant	-	NC_000007.14:g.155803055T>C	ExAC,TOPMed
SHH	Q15465	p.Thr416Ala	rs1412744230	missense variant	-	NC_000007.14:g.155803043T>C	-
SHH	Q15465	p.Thr416Ala	rs1412744230	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803043T>C	UniProt,dbSNP
SHH	Q15465	p.Thr416Ala	VAR_062646	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803043T>C	UniProt
SHH	Q15465	p.Ala417Thr	rs772273708	missense variant	-	NC_000007.14:g.155803040C>T	ExAC
SHH	Q15465	p.Pro418Leu	rs533174744	missense variant	-	NC_000007.14:g.155803036G>A	1000Genomes,ExAC,gnomAD
SHH	Q15465	p.Gly419Ser	rs779005415	missense variant	-	NC_000007.14:g.155803034C>T	ExAC,gnomAD
SHH	Q15465	p.Ala420Ter	RCV000519845	frameshift	-	NC_000007.14:g.155803031dup	ClinVar
SHH	Q15465	p.Ala421Val	rs1438494711	missense variant	-	NC_000007.14:g.155803027G>A	TOPMed
SHH	Q15465	p.Ala423Val	rs1392472871	missense variant	-	NC_000007.14:g.155803021G>A	gnomAD
SHH	Q15465	p.Ala423Thr	COSM4878936	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.155803022C>T	NCI-TCGA Cosmic
SHH	Q15465	p.Pro424Ala	RCV000009438	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803019G>C	ClinVar
SHH	Q15465	p.Pro424Ala	rs104894048	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803019G>C	ExAC,gnomAD
SHH	Q15465	p.Pro424Ala	rs104894048	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803019G>C	UniProt,dbSNP
SHH	Q15465	p.Pro424Ala	VAR_009176	missense variant	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803019G>C	UniProt
SHH	Q15465	p.Pro424Thr	rs104894048	missense variant	Holoprosencephaly 3 (hpe3)	NC_000007.14:g.155803019G>T	ExAC,gnomAD
SHH	Q15465	p.Pro424Leu	rs780618619	missense variant	-	NC_000007.14:g.155803018G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly425Asp	rs562587149	missense variant	-	NC_000007.14:g.155803015C>T	1000Genomes
SHH	Q15465	p.Ala426Val	rs750747067	missense variant	-	NC_000007.14:g.155803012G>A	ExAC,gnomAD
SHH	Q15465	p.Ala426Thr	rs756540550	missense variant	-	NC_000007.14:g.155803013C>T	ExAC,gnomAD
SHH	Q15465	p.Gly427Trp	rs763665589	missense variant	-	NC_000007.14:g.155803010C>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Gly427Glu	rs762615770	missense variant	-	NC_000007.14:g.155803009C>T	ExAC,gnomAD
SHH	Q15465	p.Gly427Arg	rs763665589	missense variant	-	NC_000007.14:g.155803010C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala428Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.155803006G>A	NCI-TCGA
SHH	Q15465	p.Ala428Thr	rs759519347	missense variant	-	NC_000007.14:g.155803007C>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala428Ter	RCV000611237	frameshift	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000007.14:g.155803011del	ClinVar
SHH	Q15465	p.Ala428Ser	rs759519347	missense variant	-	NC_000007.14:g.155803007C>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Thr429Ter	RCV000415165	frameshift	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155803006del	ClinVar
SHH	Q15465	p.Thr429Ala	rs776536270	missense variant	-	NC_000007.14:g.155803004T>C	ExAC,gnomAD
SHH	Q15465	p.Ala430Gly	rs1002753619	missense variant	-	NC_000007.14:g.155803000G>C	TOPMed,gnomAD
SHH	Q15465	p.Trp434Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.155802987C>T	NCI-TCGA
SHH	Q15465	p.Tyr435Asn	VAR_062647	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ser436Ter	RCV000656536	nonsense	Holoprosencephaly 3 (HPE3)	NC_000007.14:g.155802982G>T	ClinVar
SHH	Q15465	p.Ser436Ter	rs1554493607	stop gained	-	NC_000007.14:g.155802982G>T	-
SHH	Q15465	p.Ser436Leu	VAR_009177	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Tyr440Cys	rs773005939	missense variant	-	NC_000007.14:g.155802970T>C	ExAC,gnomAD
SHH	Q15465	p.Gln441Arg	rs772208100	missense variant	-	NC_000007.14:g.155802967T>C	ExAC,gnomAD
SHH	Q15465	p.Ile442Val	rs748366191	missense variant	-	NC_000007.14:g.155802965T>C	ExAC,gnomAD
SHH	Q15465	p.Gly443Cys	rs768839902	missense variant	-	NC_000007.14:g.155802962C>A	ExAC,gnomAD
SHH	Q15465	p.Gly443Ser	rs768839902	missense variant	-	NC_000007.14:g.155802962C>T	ExAC,gnomAD
SHH	Q15465	p.Thr444Ile	rs1301593958	missense variant	-	NC_000007.14:g.155802958G>A	TOPMed,gnomAD
SHH	Q15465	p.Thr444Asn	rs1301593958	missense variant	-	NC_000007.14:g.155802958G>T	TOPMed,gnomAD
SHH	Q15465	p.Leu446Val	rs1433901828	missense variant	-	NC_000007.14:g.155802953G>C	gnomAD
SHH	Q15465	p.Ser449Arg	rs780708466	missense variant	-	NC_000007.14:g.155802942G>T	ExAC,gnomAD
SHH	Q15465	p.Ser449Asn	rs749872328	missense variant	-	NC_000007.14:g.155802943C>T	ExAC,gnomAD
SHH	Q15465	p.Ala451Thr	rs1013898422	missense variant	-	NC_000007.14:g.155802938C>T	TOPMed
SHH	Q15465	p.Gly456Arg	VAR_062648	Missense	Holoprosencephaly 3 (HPE3) [MIM:142945]	-	UniProt
SHH	Q15465	p.Ala458Glu	rs746239519	missense variant	-	NC_000007.14:g.155802916G>T	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Ala458Val	rs746239519	missense variant	-	NC_000007.14:g.155802916G>A	ExAC,TOPMed,gnomAD
SHH	Q15465	p.Val459Ile	rs1270149935	missense variant	-	NC_000007.14:g.155802914C>T	TOPMed
SHH	Q15465	p.Val459Ala	rs1188238529	missense variant	-	NC_000007.14:g.155802913A>G	TOPMed,gnomAD
SHH	Q15465	p.Ser462Arg	rs1276575549	missense variant	-	NC_000007.14:g.155802905T>G	TOPMed
SHH	Q15465	p.Ser462Asn	rs781577852	missense variant	-	NC_000007.14:g.155802904C>T	ExAC,gnomAD
SHH	Q15465	p.Ser462Gly	rs1276575549	missense variant	-	NC_000007.14:g.155802905T>C	TOPMed
SHH	Q15465	p.Ter463Trp	rs1190311624	stop lost	-	NC_000007.14:g.155802900T>C	gnomAD
SHH	Q15465	p.Ter463Arg	rs758026695	stop lost	-	NC_000007.14:g.155802902A>T	ExAC,gnomAD
SIX1	Q15475	p.Pro5Gln	rs771057416	missense variant	-	NC_000014.9:g.60649176G>T	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Pro5Leu	rs771057416	missense variant	-	NC_000014.9:g.60649176G>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Pro5Ala	rs759906473	missense variant	-	NC_000014.9:g.60649177G>C	ExAC,gnomAD
SIX1	Q15475	p.Ser6Ala	rs749690789	missense variant	-	NC_000014.9:g.60649174A>C	ExAC,gnomAD
SIX1	Q15475	p.Gly8Val	rs778375446	missense variant	-	NC_000014.9:g.60649167C>A	ExAC,gnomAD
SIX1	Q15475	p.Gly8Ala	rs778375446	missense variant	-	NC_000014.9:g.60649167C>G	ExAC,gnomAD
SIX1	Q15475	p.Thr10Met	rs1417956063	missense variant	-	NC_000014.9:g.60649161G>A	gnomAD
SIX1	Q15475	p.Glu12Lys	rs1167753630	missense variant	-	NC_000014.9:g.60649156C>T	gnomAD
SIX1	Q15475	p.Gln13Lys	rs1480942237	missense variant	-	NC_000014.9:g.60649153G>T	gnomAD
SIX1	Q15475	p.Val17Met	rs1197458982	missense variant	-	NC_000014.9:g.60649141C>T	gnomAD
SIX1	Q15475	p.Val17Glu	RCV000055926	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000014.9:g.60649140A>T	ClinVar
SIX1	Q15475	p.Val17Glu	rs397515562	missense variant	-	NC_000014.9:g.60649140A>T	-
SIX1	Q15475	p.Val17Glu	rs397515562	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60649140A>T	UniProt,dbSNP
SIX1	Q15475	p.Val17Glu	VAR_064948	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60649140A>T	UniProt
SIX1	Q15475	p.Glu19Lys	rs1490210309	missense variant	-	NC_000014.9:g.60649135C>T	gnomAD
SIX1	Q15475	p.Val20Ala	rs1233578721	missense variant	-	NC_000014.9:g.60649131A>G	gnomAD
SIX1	Q15475	p.Leu21Pro	rs1206708089	missense variant	-	NC_000014.9:g.60649128A>G	gnomAD
SIX1	Q15475	p.Gln22Leu	rs1177617020	missense variant	-	NC_000014.9:g.60649125T>A	TOPMed
SIX1	Q15475	p.Gln23Pro	rs781574148	missense variant	-	NC_000014.9:g.60649122T>G	ExAC,gnomAD
SIX1	Q15475	p.Gly25Glu	rs867031506	missense variant	-	NC_000014.9:g.60649116C>T	gnomAD
SIX1	Q15475	p.Asn26Lys	rs1375481520	missense variant	-	NC_000014.9:g.60649112G>C	TOPMed
SIX1	Q15475	p.Glu28Asp	rs146357380	missense variant	-	NC_000014.9:g.60649106C>G	ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Phe33Leu	rs1297503138	missense variant	-	NC_000014.9:g.60649093A>G	TOPMed
SIX1	Q15475	p.Phe33Leu	rs764103068	missense variant	-	NC_000014.9:g.60649091G>C	ExAC,gnomAD
SIX1	Q15475	p.Leu37Val	rs1001409064	missense variant	-	NC_000014.9:g.60649081G>C	TOPMed,gnomAD
SIX1	Q15475	p.Pro38Ala	rs760736490	missense variant	-	NC_000014.9:g.60649078G>C	ExAC,gnomAD
SIX1	Q15475	p.Ala39Thr	rs1431824329	missense variant	-	NC_000014.9:g.60649075C>T	gnomAD
SIX1	Q15475	p.Cys40Gly	rs767478646	missense variant	-	NC_000014.9:g.60649072A>C	ExAC,gnomAD
SIX1	Q15475	p.His42Tyr	rs1303484853	missense variant	-	NC_000014.9:g.60649066G>A	TOPMed
SIX1	Q15475	p.His44Gln	rs149166341	missense variant	-	NC_000014.9:g.60649058G>C	ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.His44Arg	rs1480268855	missense variant	-	NC_000014.9:g.60649059T>C	gnomAD
SIX1	Q15475	p.Glu47Lys	rs1223102250	missense variant	-	NC_000014.9:g.60649051C>T	TOPMed
SIX1	Q15475	p.Ser48Arg	rs770875229	missense variant	-	NC_000014.9:g.60649046G>T	ExAC,gnomAD
SIX1	Q15475	p.Ser48Asn	rs774637636	missense variant	-	NC_000014.9:g.60649047C>T	ExAC,gnomAD
SIX1	Q15475	p.Leu50Phe	rs1232263034	missense variant	-	NC_000014.9:g.60649042G>A	gnomAD
SIX1	Q15475	p.Ala52Val	rs1258971434	missense variant	-	NC_000014.9:g.60649035G>A	TOPMed
SIX1	Q15475	p.Ala54Thr	rs1261097341	missense variant	-	NC_000014.9:g.60649030C>T	gnomAD
SIX1	Q15475	p.Val55Met	rs770253091	missense variant	-	NC_000014.9:g.60649027C>T	ExAC,gnomAD
SIX1	Q15475	p.Val55Ala	rs1251187381	missense variant	-	NC_000014.9:g.60649026A>G	TOPMed
SIX1	Q15475	p.Val56Leu	rs748718182	missense variant	-	NC_000014.9:g.60649024C>G	ExAC,gnomAD
SIX1	Q15475	p.Ala57Thr	rs1221612141	missense variant	-	NC_000014.9:g.60649021C>T	gnomAD
SIX1	Q15475	p.His59Tyr	rs1371905806	missense variant	-	NC_000014.9:g.60649015G>A	gnomAD
SIX1	Q15475	p.Arg60His	rs893019043	missense variant	-	NC_000014.9:g.60649011C>T	TOPMed,gnomAD
SIX1	Q15475	p.Phe63Leu	rs1335186361	missense variant	-	NC_000014.9:g.60649003A>G	gnomAD
SIX1	Q15475	p.Arg64His	RCV000512900	missense variant	-	NC_000014.9:g.60648999C>T	ClinVar
SIX1	Q15475	p.Arg64His	RCV000706990	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648999C>T	ClinVar
SIX1	Q15475	p.Arg64Pro	rs1051653507	missense variant	-	NC_000014.9:g.60648999C>G	TOPMed,gnomAD
SIX1	Q15475	p.Arg64His	rs1051653507	missense variant	-	NC_000014.9:g.60648999C>T	TOPMed,gnomAD
SIX1	Q15475	p.Glu65Gln	rs1463809728	missense variant	-	NC_000014.9:g.60648997C>G	TOPMed
SIX1	Q15475	p.Leu66Pro	rs1161503372	missense variant	-	NC_000014.9:g.60648993A>G	gnomAD
SIX1	Q15475	p.Lys68Met	rs1293880867	missense variant	-	NC_000014.9:g.60648987T>A	gnomAD
SIX1	Q15475	p.Leu70Val	rs372978267	missense variant	-	NC_000014.9:g.60648982G>C	ESP,ExAC,gnomAD
SIX1	Q15475	p.Ser72Arg	rs778653697	missense variant	-	NC_000014.9:g.60648974G>T	ExAC,gnomAD
SIX1	Q15475	p.His73Pro	VAR_064949	Missense	Branchiootic syndrome 3 (BOS3) [MIM:608389]	-	UniProt
SIX1	Q15475	p.Ser76Leu	rs756912951	missense variant	-	NC_000014.9:g.60648963G>A	ExAC,gnomAD
SIX1	Q15475	p.Asn79Asp	rs752695594	missense variant	-	NC_000014.9:g.60648955T>C	ExAC,gnomAD
SIX1	Q15475	p.Asn79Ser	rs767354178	missense variant	-	NC_000014.9:g.60648954T>C	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Pro81Ser	rs759405851	missense variant	-	NC_000014.9:g.60648949G>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Lys82Arg	rs766600023	missense variant	-	NC_000014.9:g.60648945T>C	ExAC,gnomAD
SIX1	Q15475	p.Gln84His	rs973266865	missense variant	-	NC_000014.9:g.60648938C>A	TOPMed,gnomAD
SIX1	Q15475	p.Gln84His	rs973266865	missense variant	-	NC_000014.9:g.60648938C>G	TOPMed,gnomAD
SIX1	Q15475	p.Gln84Arg	rs1247489566	missense variant	-	NC_000014.9:g.60648939T>C	gnomAD
SIX1	Q15475	p.Val93Leu	rs1045845044	missense variant	-	NC_000014.9:g.60648913C>G	TOPMed
SIX1	Q15475	p.Glu94Gly	rs1224396065	missense variant	-	NC_000014.9:g.60648909T>C	TOPMed
SIX1	Q15475	p.Ala95Val	rs200835641	missense variant	-	NC_000014.9:g.60648906G>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Ala95Thr	rs1264228301	missense variant	-	NC_000014.9:g.60648907C>T	TOPMed
SIX1	Q15475	p.Glu96Lys	rs1216716466	missense variant	-	NC_000014.9:g.60648904C>T	TOPMed
SIX1	Q15475	p.Leu98Met	rs1451985437	missense variant	-	NC_000014.9:g.60648898G>T	TOPMed,gnomAD
SIX1	Q15475	p.Leu98Val	rs1451985437	missense variant	-	NC_000014.9:g.60648898G>C	TOPMed,gnomAD
SIX1	Q15475	p.Arg99Cys	rs17850414	missense variant	-	NC_000014.9:g.60648895G>A	-
SIX1	Q15475	p.Arg99Cys	rs17850414	missense variant	-	NC_000014.9:g.60648895G>A	UniProt,dbSNP
SIX1	Q15475	p.Arg99Cys	VAR_067446	missense variant	-	NC_000014.9:g.60648895G>A	UniProt
SIX1	Q15475	p.Arg99His	rs1185640236	missense variant	-	NC_000014.9:g.60648894C>T	TOPMed
SIX1	Q15475	p.Pro102Ser	rs1426574416	missense variant	-	NC_000014.9:g.60648886G>A	gnomAD
SIX1	Q15475	p.Val106Gly	RCV000055923	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000014.9:g.60648873A>C	ClinVar
SIX1	Q15475	p.Val106Gly	rs397515560	missense variant	-	NC_000014.9:g.60648873A>C	-
SIX1	Q15475	p.Val106Gly	rs397515560	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648873A>C	UniProt,dbSNP
SIX1	Q15475	p.Val106Gly	VAR_064950	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648873A>C	UniProt
SIX1	Q15475	p.Tyr109Ter	rs1555366324	stop gained	-	NC_000014.9:g.60648864dup	-
SIX1	Q15475	p.Tyr109Ter	RCV000592334	nonsense	-	NC_000014.9:g.60648864dup	ClinVar
SIX1	Q15475	p.Arg110Gln	RCV000482613	missense variant	-	NC_000014.9:g.60648861C>T	ClinVar
SIX1	Q15475	p.Arg110Gln	rs1064794308	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648861C>T	UniProt,dbSNP
SIX1	Q15475	p.Arg110Gln	VAR_064951	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648861C>T	UniProt
SIX1	Q15475	p.Arg110Gln	rs1064794308	missense variant	-	NC_000014.9:g.60648861C>T	TOPMed
SIX1	Q15475	p.Arg110Trp	rs80356459	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648862G>A	UniProt,dbSNP
SIX1	Q15475	p.Arg110Trp	VAR_031024	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648862G>A	UniProt
SIX1	Q15475	p.Arg110Trp	rs80356459	missense variant	Branchiootic syndrome 3 (bos3)	NC_000014.9:g.60648862G>A	-
SIX1	Q15475	p.Arg110Trp	RCV000008807	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648862G>A	ClinVar
SIX1	Q15475	p.Arg112Cys	rs397515561	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648856G>A	UniProt,dbSNP
SIX1	Q15475	p.Arg112Cys	VAR_064952	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648856G>A	UniProt
SIX1	Q15475	p.Arg112Cys	rs397515561	missense variant	-	NC_000014.9:g.60648856G>A	-
SIX1	Q15475	p.Arg112Cys	RCV000055924	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000014.9:g.60648856G>A	ClinVar
SIX1	Q15475	p.Arg113Gly	rs1268579529	missense variant	-	NC_000014.9:g.60648853G>C	TOPMed,gnomAD
SIX1	Q15475	p.Pro116Leu	rs777361656	missense variant	-	NC_000014.9:g.60648843G>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Pro116Ala	rs748953823	missense variant	-	NC_000014.9:g.60648844G>C	ExAC,gnomAD
SIX1	Q15475	p.Thr120Ser	rs748057221	missense variant	-	NC_000014.9:g.60648831G>C	ExAC,gnomAD
SIX1	Q15475	p.Ile121Val	rs1230421981	missense variant	-	NC_000014.9:g.60648829T>C	TOPMed
SIX1	Q15475	p.Trp122Arg	rs121909770	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648826A>T	UniProt,dbSNP
SIX1	Q15475	p.Trp122Arg	VAR_064953	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648826A>T	UniProt
SIX1	Q15475	p.Trp122Arg	rs121909770	missense variant	Branchiootic syndrome 3 (bos3)	NC_000014.9:g.60648826A>T	-
SIX1	Q15475	p.Trp122Arg	RCV000008809	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648826A>T	ClinVar
SIX1	Q15475	p.Glu125Lys	RCV000190433	missense variant	Deafness, autosomal dominant 23 (DFNA23)	NC_000014.9:g.60648817C>T	ClinVar
SIX1	Q15475	p.Glu125Lys	rs797044960	missense variant	Deafness, autosomal dominant 23 (dfna23)	NC_000014.9:g.60648817C>T	-
SIX1	Q15475	p.Ser128Asn	rs754918861	missense variant	-	NC_000014.9:g.60648807C>T	ExAC,gnomAD
SIX1	Q15475	p.Tyr129Cys	RCV000008806	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648804T>C	ClinVar
SIX1	Q15475	p.Tyr129Cys	RCV000055925	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000014.9:g.60648804T>C	ClinVar
SIX1	Q15475	p.Tyr129Cys	RCV000679883	missense variant	Deafness, autosomal dominant 23 (DFNA23)	NC_000014.9:g.60648804T>C	ClinVar
SIX1	Q15475	p.Tyr129Cys	RCV000413341	missense variant	-	NC_000014.9:g.60648804T>C	ClinVar
SIX1	Q15475	p.Tyr129Cys	RCV000763344	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648804T>C	ClinVar
SIX1	Q15475	p.Tyr129Ter	rs371614639	stop gained	-	NC_000014.9:g.60648803G>C	ESP
SIX1	Q15475	p.Tyr129Cys	rs104894478	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648804T>C	UniProt,dbSNP
SIX1	Q15475	p.Tyr129Cys	VAR_031025	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648804T>C	UniProt
SIX1	Q15475	p.Tyr129Cys	rs104894478	missense variant	Branchiootic syndrome 3 (bos3)	NC_000014.9:g.60648804T>C	TOPMed,gnomAD
SIX1	Q15475	p.Phe131Leu	rs930853232	missense variant	-	NC_000014.9:g.60648799A>G	TOPMed
SIX1	Q15475	p.Phe131Leu	rs1212556544	missense variant	-	NC_000014.9:g.60648797G>C	TOPMed,gnomAD
SIX1	Q15475	p.Glu133del	VAR_031026	inframe_deletion	Deafness, autosomal dominant, 23 (DFNA23) [MIM:605192]	-	UniProt
SIX1	Q15475	p.Gly137Val	rs975058979	missense variant	-	NC_000014.9:g.60648780C>A	TOPMed
SIX1	Q15475	p.Val138Leu	rs758631109	missense variant	-	NC_000014.9:g.60648778C>G	ExAC,gnomAD
SIX1	Q15475	p.Glu141Gly	rs776744679	missense variant	-	NC_000014.9:g.60648768T>C	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Glu141Lys	rs761906849	missense variant	-	NC_000014.9:g.60648769C>T	ExAC,gnomAD
SIX1	Q15475	p.Tyr143Asp	rs1201052250	missense variant	-	NC_000014.9:g.60648763A>C	gnomAD
SIX1	Q15475	p.Ala144Val	rs988112453	missense variant	-	NC_000014.9:g.60648759G>A	TOPMed,gnomAD
SIX1	Q15475	p.Ala144Gly	rs988112453	missense variant	-	NC_000014.9:g.60648759G>C	TOPMed,gnomAD
SIX1	Q15475	p.His145Gln	rs1195840852	missense variant	-	NC_000014.9:g.60648755G>T	TOPMed,gnomAD
SIX1	Q15475	p.His145Gln	rs1195840852	missense variant	-	NC_000014.9:g.60648755G>C	TOPMed,gnomAD
SIX1	Q15475	p.His145Asp	rs764633083	missense variant	-	NC_000014.9:g.60648757G>C	ExAC,gnomAD
SIX1	Q15475	p.Tyr148Ter	rs1253548277	stop gained	-	NC_000014.9:g.60648746G>C	gnomAD
SIX1	Q15475	p.Glu153Lys	rs1317609914	missense variant	-	NC_000014.9:g.60648733C>T	gnomAD
SIX1	Q15475	p.Lys154Ter	RCV000477918	nonsense	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60648730T>A	ClinVar
SIX1	Q15475	p.Lys154Ter	rs1060499595	stop gained	-	NC_000014.9:g.60648730T>A	-
SIX1	Q15475	p.Arg155Trp	rs775911579	missense variant	-	NC_000014.9:g.60648727G>A	ExAC,gnomAD
SIX1	Q15475	p.Arg155Gln	rs772338719	missense variant	-	NC_000014.9:g.60648726C>T	ExAC,gnomAD
SIX1	Q15475	p.Glu156Lys	rs773031458	missense variant	-	NC_000014.9:g.60648724C>T	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Leu157Val	RCV000761879	missense variant	-	NC_000014.9:g.60648721G>C	ClinVar
SIX1	Q15475	p.Ala158Val	rs747639845	missense variant	-	NC_000014.9:g.60648717G>A	ExAC,gnomAD
SIX1	Q15475	p.Glu159Gln	rs1301781969	missense variant	-	NC_000014.9:g.60648715C>G	TOPMed,gnomAD
SIX1	Q15475	p.Glu159Lys	rs1301781969	missense variant	-	NC_000014.9:g.60648715C>T	TOPMed,gnomAD
SIX1	Q15475	p.Ala160Asp	rs1010466700	missense variant	-	NC_000014.9:g.60648711G>T	TOPMed
SIX1	Q15475	p.Ala160Val	rs1010466700	missense variant	-	NC_000014.9:g.60648711G>A	TOPMed
SIX1	Q15475	p.Thr161Ser	rs779837812	missense variant	-	NC_000014.9:g.60648708G>C	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Thr161Ala	rs746973450	missense variant	-	NC_000014.9:g.60648709T>C	ExAC,gnomAD
SIX1	Q15475	p.Leu163Val	RCV000215644	missense variant	-	NC_000014.9:g.60648703G>C	ClinVar
SIX1	Q15475	p.Leu163Val	rs876658002	missense variant	-	NC_000014.9:g.60648703G>C	-
SIX1	Q15475	p.Thr164Ser	rs1479289739	missense variant	-	NC_000014.9:g.60648699G>C	gnomAD
SIX1	Q15475	p.Thr165Ile	rs143516729	missense variant	-	NC_000014.9:g.60648696G>A	ESP,gnomAD
SIX1	Q15475	p.Gln167Glu	rs1201459073	missense variant	-	NC_000014.9:g.60648691G>C	TOPMed
SIX1	Q15475	p.Val168Ile	rs371998997	missense variant	-	NC_000014.9:g.60648688C>T	ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Ser169Gly	rs765427858	missense variant	-	NC_000014.9:g.60648685T>C	ExAC,gnomAD
SIX1	Q15475	p.Asn170Lys	RCV000520421	missense variant	-	NC_000014.9:g.60648680G>T	ClinVar
SIX1	Q15475	p.Asn170Lys	rs1555366309	missense variant	-	NC_000014.9:g.60648680G>T	-
SIX1	Q15475	p.Phe172Cys	rs1033334195	missense variant	-	NC_000014.9:g.60648675A>C	TOPMed
SIX1	Q15475	p.Arg178Lys	rs1236315675	missense variant	-	NC_000014.9:g.60648657C>T	TOPMed
SIX1	Q15475	p.Arg180Trp	rs1264219816	missense variant	-	NC_000014.9:g.60648652G>A	gnomAD
SIX1	Q15475	p.Glu183Gly	RCV000483984	missense variant	-	NC_000014.9:g.60648642T>C	ClinVar
SIX1	Q15475	p.Glu183Gly	rs1064793268	missense variant	-	NC_000014.9:g.60648642T>C	-
SIX1	Q15475	p.Ala184Val	rs1239894490	missense variant	-	NC_000014.9:g.60648639G>A	TOPMed,gnomAD
SIX1	Q15475	p.Ala184Thr	rs1274431236	missense variant	-	NC_000014.9:g.60648640C>T	TOPMed,gnomAD
SIX1	Q15475	p.Glu186Lys	rs1337543986	missense variant	-	NC_000014.9:g.60648634C>T	gnomAD
SIX1	Q15475	p.Glu188Gly	rs760121808	missense variant	-	NC_000014.9:g.60646575T>C	ExAC,gnomAD
SIX1	Q15475	p.Asn189Ser	rs775109837	missense variant	-	NC_000014.9:g.60646572T>C	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Thr190Ile	rs1440228225	missense variant	-	NC_000014.9:g.60646569G>A	TOPMed
SIX1	Q15475	p.Glu191Lys	rs771994916	missense variant	-	NC_000014.9:g.60646567C>T	ExAC,gnomAD
SIX1	Q15475	p.Asn193Asp	rs574181095	missense variant	-	NC_000014.9:g.60646561T>C	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Asn193Ile	RCV000276902	missense variant	Branchiootorenal Spectrum Disorders	NC_000014.9:g.60646560T>A	ClinVar
SIX1	Q15475	p.Asn193Ile	RCV000313323	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000014.9:g.60646560T>A	ClinVar
SIX1	Q15475	p.Asn193Ile	rs142301715	missense variant	-	NC_000014.9:g.60646560T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Asn193Ser	rs142301715	missense variant	-	NC_000014.9:g.60646560T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Asn193Ile	RCV000607647	missense variant	-	NC_000014.9:g.60646560T>A	ClinVar
SIX1	Q15475	p.Ser196Phe	rs749472807	missense variant	-	NC_000014.9:g.60646551G>A	ExAC,gnomAD
SIX1	Q15475	p.Ser197Pro	rs1411016799	missense variant	-	NC_000014.9:g.60646549A>G	TOPMed
SIX1	Q15475	p.Lys199Asn	rs1168903423	missense variant	-	NC_000014.9:g.60646541C>A	TOPMed,gnomAD
SIX1	Q15475	p.Asn201Lys	rs756406449	missense variant	-	NC_000014.9:g.60646535G>C	ExAC,gnomAD
SIX1	Q15475	p.Leu203Phe	rs1304541108	missense variant	-	NC_000014.9:g.60646531G>A	TOPMed
SIX1	Q15475	p.Ser204Cys	rs752687781	missense variant	-	NC_000014.9:g.60646527G>C	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Ser204Tyr	rs752687781	missense variant	-	NC_000014.9:g.60646527G>T	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Pro205Leu	rs781397777	missense variant	-	NC_000014.9:g.60646524G>A	ExAC,gnomAD
SIX1	Q15475	p.Leu206Val	rs543609416	missense variant	-	NC_000014.9:g.60646522G>C	1000Genomes,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Gly209Ala	rs758861510	missense variant	-	NC_000014.9:g.60646512C>G	ExAC,gnomAD
SIX1	Q15475	p.Gly209Ser	rs1286824463	missense variant	-	NC_000014.9:g.60646513C>T	TOPMed
SIX1	Q15475	p.Pro211Leu	rs374638294	missense variant	-	NC_000014.9:g.60646506G>A	ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Leu212Phe	rs1337123501	missense variant	-	NC_000014.9:g.60646504G>A	gnomAD
SIX1	Q15475	p.Met213Leu	rs1277192666	missense variant	-	NC_000014.9:g.60646501T>G	gnomAD
SIX1	Q15475	p.Met213Ile	rs1481960266	missense variant	-	NC_000014.9:g.60646499C>G	TOPMed
SIX1	Q15475	p.Met213Thr	rs1223807292	missense variant	-	NC_000014.9:g.60646500A>G	gnomAD
SIX1	Q15475	p.Ser215Ile	RCV000528335	missense variant	Branchiootic syndrome 3 (BOS3)	NC_000014.9:g.60646494C>A	ClinVar
SIX1	Q15475	p.Ser215Gly	rs560990241	missense variant	-	NC_000014.9:g.60646495T>C	1000Genomes,ExAC,gnomAD
SIX1	Q15475	p.Ser215Ile	rs540778343	missense variant	-	NC_000014.9:g.60646494C>A	1000Genomes
SIX1	Q15475	p.Ser215Asn	rs540778343	missense variant	-	NC_000014.9:g.60646494C>T	1000Genomes
SIX1	Q15475	p.Glu219Asp	rs1435096818	missense variant	-	NC_000014.9:g.60646481T>A	gnomAD
SIX1	Q15475	p.Ser221Ter	rs1349841820	stop gained	-	NC_000014.9:g.60646476G>C	gnomAD
SIX1	Q15475	p.Pro222Ser	rs767030543	missense variant	-	NC_000014.9:g.60646474G>A	ExAC,gnomAD
SIX1	Q15475	p.Gln224Arg	rs1412013227	missense variant	-	NC_000014.9:g.60646467T>C	gnomAD
SIX1	Q15475	p.Asp227Tyr	rs144481204	missense variant	-	NC_000014.9:g.60646459C>A	ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Asp227Glu	rs149265761	missense variant	-	NC_000014.9:g.60646457G>T	ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Asp227Tyr	RCV000782257	missense variant	-	NC_000014.9:g.60646459C>A	ClinVar
SIX1	Q15475	p.Gln228His	rs749015316	missense variant	-	NC_000014.9:g.60646454C>G	ExAC,gnomAD
SIX1	Q15475	p.Gln228Glu	rs770666125	missense variant	-	NC_000014.9:g.60646456G>C	ExAC,gnomAD
SIX1	Q15475	p.Ser230Leu	rs918862160	missense variant	-	NC_000014.9:g.60646449G>A	TOPMed
SIX1	Q15475	p.Val231Phe	rs769901336	missense variant	-	NC_000014.9:g.60646447C>A	ExAC,gnomAD
SIX1	Q15475	p.Leu232Phe	rs1179637997	missense variant	-	NC_000014.9:g.60646444G>A	TOPMed
SIX1	Q15475	p.Leu233Met	rs781362403	missense variant	-	NC_000014.9:g.60646441G>T	ExAC,gnomAD
SIX1	Q15475	p.Gln235His	rs747474509	missense variant	-	NC_000014.9:g.60646433C>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Gly236Arg	rs780726681	missense variant	-	NC_000014.9:g.60646432C>G	ExAC,gnomAD
SIX1	Q15475	p.Asn237His	rs1204025083	missense variant	-	NC_000014.9:g.60646429T>G	gnomAD
SIX1	Q15475	p.Met238Lys	rs915194188	missense variant	-	NC_000014.9:g.60646425A>T	TOPMed
SIX1	Q15475	p.Met238Thr	rs915194188	missense variant	-	NC_000014.9:g.60646425A>G	TOPMed
SIX1	Q15475	p.His240Gln	rs759290962	missense variant	-	NC_000014.9:g.60646418G>C	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Ala241Thr	rs750752374	missense variant	-	NC_000014.9:g.60646417C>T	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Arg242Gly	rs755668042	missense variant	-	NC_000014.9:g.60646414T>C	ExAC,gnomAD
SIX1	Q15475	p.Arg242Lys	rs752399991	missense variant	-	NC_000014.9:g.60646413C>T	ExAC,gnomAD
SIX1	Q15475	p.Arg242Ser	rs766975120	missense variant	-	NC_000014.9:g.60646412C>G	ExAC,TOPMed
SIX1	Q15475	p.Ser244Leu	rs1445078561	missense variant	-	NC_000014.9:g.60646407G>A	gnomAD
SIX1	Q15475	p.Asn245Ser	rs773902181	missense variant	-	NC_000014.9:g.60646404T>C	ExAC,gnomAD
SIX1	Q15475	p.Ser247Pro	rs1470481678	missense variant	-	NC_000014.9:g.60646399A>G	gnomAD
SIX1	Q15475	p.Ser247Tyr	rs766271672	missense variant	-	NC_000014.9:g.60646398G>T	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Ser247Phe	rs766271672	missense variant	-	NC_000014.9:g.60646398G>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Pro249Gln	RCV000613496	missense variant	-	NC_000014.9:g.60646392G>T	ClinVar
SIX1	Q15475	p.Pro249Ser	rs763012848	missense variant	-	NC_000014.9:g.60646393G>A	ExAC
SIX1	Q15475	p.Pro249Leu	rs368974927	missense variant	-	NC_000014.9:g.60646392G>A	UniProt,dbSNP
SIX1	Q15475	p.Pro249Leu	VAR_064954	missense variant	-	NC_000014.9:g.60646392G>A	UniProt
SIX1	Q15475	p.Pro249Leu	rs368974927	missense variant	-	NC_000014.9:g.60646392G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Pro249Gln	rs368974927	missense variant	-	NC_000014.9:g.60646392G>T	1000Genomes,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Thr252Ser	rs200205240	missense variant	-	NC_000014.9:g.60646384T>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Thr252Ala	rs200205240	missense variant	-	NC_000014.9:g.60646384T>C	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Ser254Leu	rs747061363	missense variant	-	NC_000014.9:g.60646377G>A	ExAC,gnomAD
SIX1	Q15475	p.Pro256Ala	rs758821559	missense variant	-	NC_000014.9:g.60646372G>C	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Pro256Ser	rs758821559	missense variant	-	NC_000014.9:g.60646372G>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Gly259Arg	rs779084301	missense variant	-	NC_000014.9:g.60646363C>G	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Gly259Ser	rs779084301	missense variant	-	NC_000014.9:g.60646363C>T	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Gly259Cys	rs779084301	missense variant	-	NC_000014.9:g.60646363C>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Leu260Gln	rs370259896	missense variant	-	NC_000014.9:g.60646359A>T	ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Leu260Arg	rs370259896	missense variant	-	NC_000014.9:g.60646359A>C	ESP,ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Gln261Arg	rs780802037	missense variant	-	NC_000014.9:g.60646356T>C	ExAC,gnomAD
SIX1	Q15475	p.Gln261Pro	rs780802037	missense variant	-	NC_000014.9:g.60646356T>G	ExAC,gnomAD
SIX1	Q15475	p.Gln264Glu	rs751062848	missense variant	-	NC_000014.9:g.60646348G>C	ExAC,gnomAD
SIX1	Q15475	p.His265Gln	rs1375362861	missense variant	-	NC_000014.9:g.60646343A>T	gnomAD
SIX1	Q15475	p.His265Arg	rs1475558927	missense variant	-	NC_000014.9:g.60646344T>C	gnomAD
SIX1	Q15475	p.His265Tyr	rs997323109	missense variant	-	NC_000014.9:g.60646345G>A	TOPMed
SIX1	Q15475	p.Leu267Phe	rs765929697	missense variant	-	NC_000014.9:g.60646339G>A	ExAC,gnomAD
SIX1	Q15475	p.Asp269Gly	rs1385361246	missense variant	-	NC_000014.9:g.60646332T>C	gnomAD
SIX1	Q15475	p.Asp269His	rs1453838313	missense variant	-	NC_000014.9:g.60646333C>G	gnomAD
SIX1	Q15475	p.Ser270Cys	rs901741650	missense variant	-	NC_000014.9:g.60646329G>C	TOPMed
SIX1	Q15475	p.Ser270Thr	rs1301445039	missense variant	-	NC_000014.9:g.60646330A>T	gnomAD
SIX1	Q15475	p.Gly273Cys	rs764896733	missense variant	-	NC_000014.9:g.60646321C>A	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Gly273Ser	rs764896733	missense variant	-	NC_000014.9:g.60646321C>T	ExAC,TOPMed,gnomAD
SIX1	Q15475	p.Ser278Asn	rs1446357667	missense variant	-	NC_000014.9:g.60646305C>T	gnomAD
SIX1	Q15475	p.Asp281Glu	rs577150755	missense variant	-	NC_000014.9:g.60646295G>T	1000Genomes,ExAC,gnomAD
SIX1	Q15475	p.Gly283Arg	rs1043747885	missense variant	-	NC_000014.9:g.60646291C>T	TOPMed
SIX1	Q15475	p.Ser284Pro	rs775655341	missense variant	-	NC_000014.9:g.60646288A>G	ExAC,gnomAD
TWIST1	Q15672	p.Ser7Gly	rs1483717033	missense variant	-	NC_000007.14:g.19117303T>C	TOPMed
TWIST1	Q15672	p.Val10Asp	rs1204274226	missense variant	-	NC_000007.14:g.19117293A>T	TOPMed
TWIST1	Q15672	p.Pro12Leu	rs192275163	missense variant	-	NC_000007.14:g.19117287G>A	TOPMed,gnomAD
TWIST1	Q15672	p.Pro12Thr	rs1251636952	missense variant	-	NC_000007.14:g.19117288G>T	gnomAD
TWIST1	Q15672	p.Asp14Tyr	rs1032642485	missense variant	-	NC_000007.14:g.19117282C>A	TOPMed
TWIST1	Q15672	p.Ser16Gly	rs767564383	missense variant	-	NC_000007.14:g.19117276T>C	ExAC
TWIST1	Q15672	p.Ser16Ile	rs1315930064	missense variant	-	NC_000007.14:g.19117275C>A	TOPMed,gnomAD
TWIST1	Q15672	p.Ser18Asn	rs761167660	missense variant	-	NC_000007.14:g.19117269C>T	ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Ser18Thr	rs761167660	missense variant	-	NC_000007.14:g.19117269C>G	ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Glu21Asp	rs1040135367	missense variant	-	NC_000007.14:g.19117259C>G	TOPMed,gnomAD
TWIST1	Q15672	p.Pro24Leu	rs1008683492	missense variant	-	NC_000007.14:g.19117251G>A	TOPMed
TWIST1	Q15672	p.Pro24Ala	rs559821440	missense variant	-	NC_000007.14:g.19117252G>C	1000Genomes,ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Asp25Glu	rs1208022905	missense variant	-	NC_000007.14:g.19117247G>T	TOPMed,gnomAD
TWIST1	Q15672	p.Asp25Gly	rs763618520	missense variant	-	NC_000007.14:g.19117248T>C	ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Arg26Gln	rs1171762153	missense variant	-	NC_000007.14:g.19117245C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Arg26Pro	rs1171762153	missense variant	-	NC_000007.14:g.19117245C>G	TOPMed,gnomAD
TWIST1	Q15672	p.Gln28Ter	RCV000008447	nonsense	Saethre-Chotzen syndrome with eyelid anomalies	NC_000007.14:g.19117240G>A	ClinVar
TWIST1	Q15672	p.Gln28Ter	rs104894055	stop gained	-	NC_000007.14:g.19117240G>A	-
TWIST1	Q15672	p.Pro30Arg	rs1484332948	missense variant	-	NC_000007.14:g.19117233G>C	TOPMed,gnomAD
TWIST1	Q15672	p.Ser31Ile	rs1478055727	missense variant	-	NC_000007.14:g.19117230C>A	gnomAD
TWIST1	Q15672	p.Gly32Cys	rs878852992	missense variant	-	NC_000007.14:g.19117228C>A	TOPMed,gnomAD
TWIST1	Q15672	p.Gly32Ser	rs878852992	missense variant	-	NC_000007.14:g.19117228C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Gly32Asp	rs1196347469	missense variant	-	NC_000007.14:g.19117227C>T	gnomAD
TWIST1	Q15672	p.Gly32Ser	RCV000224073	missense variant	-	NC_000007.14:g.19117228C>T	ClinVar
TWIST1	Q15672	p.Gly32Ser	RCV000497302	missense variant	-	NC_000007.14:g.19117228C>T	ClinVar
TWIST1	Q15672	p.Gly32Ser	RCV000765953	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19117228C>T	ClinVar
TWIST1	Q15672	p.Lys33Gln	rs930856354	missense variant	-	NC_000007.14:g.19117225T>G	TOPMed
TWIST1	Q15672	p.Lys33Ter	RCV000695036	frameshift	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19117212_19117233del	ClinVar
TWIST1	Q15672	p.Gly35Arg	rs1450640106	missense variant	-	NC_000007.14:g.19117219C>G	TOPMed,gnomAD
TWIST1	Q15672	p.Gly35Glu	rs920859481	missense variant	-	NC_000007.14:g.19117218C>T	TOPMed
TWIST1	Q15672	p.Gly35Arg	rs1450640106	missense variant	-	NC_000007.14:g.19117219C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Gly36Val	rs1227188751	missense variant	-	NC_000007.14:g.19117215C>A	gnomAD
TWIST1	Q15672	p.Arg37Leu	rs541418085	missense variant	-	NC_000007.14:g.19117212C>A	1000Genomes
TWIST1	Q15672	p.Ser42Gly	rs1316063636	missense variant	-	NC_000007.14:g.19117198T>C	gnomAD
TWIST1	Q15672	p.Arg43Thr	rs1156562532	missense variant	-	NC_000007.14:g.19117194C>G	TOPMed
TWIST1	Q15672	p.Ser45Ter	RCV000653735	frameshift	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19117184_19117194del	ClinVar
TWIST1	Q15672	p.Ser45Thr	rs2522202	missense variant	-	NC_000007.14:g.19117188C>G	TOPMed,gnomAD
TWIST1	Q15672	p.Ser45Asn	rs2522202	missense variant	-	NC_000007.14:g.19117188C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Ser45Arg	rs2522201	missense variant	-	NC_000007.14:g.19117187G>T	TOPMed,gnomAD
TWIST1	Q15672	p.Ser45Arg	rs2522201	missense variant	-	NC_000007.14:g.19117187G>C	TOPMed,gnomAD
TWIST1	Q15672	p.Ala46Thr	rs1229160500	missense variant	-	NC_000007.14:g.19117186C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Gly47Asp	rs927996258	missense variant	-	NC_000007.14:g.19117182C>T	TOPMed
TWIST1	Q15672	p.Gly47Val	rs927996258	missense variant	-	NC_000007.14:g.19117182C>A	TOPMed
TWIST1	Q15672	p.Gly49Ser	rs1291515956	missense variant	-	NC_000007.14:g.19117177C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Gly51Val	rs1305059157	missense variant	-	NC_000007.14:g.19117170C>A	TOPMed
TWIST1	Q15672	p.Pro52Arg	rs1240544595	missense variant	-	NC_000007.14:g.19117167G>C	TOPMed
TWIST1	Q15672	p.Gly54Arg	rs1357153711	missense variant	-	NC_000007.14:g.19117162C>T	TOPMed
TWIST1	Q15672	p.Ala55Asp	rs991344055	missense variant	-	NC_000007.14:g.19117158G>T	TOPMed
TWIST1	Q15672	p.Ala56Thr	rs957243800	missense variant	-	NC_000007.14:g.19117156C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Ala56Val	rs1372366604	missense variant	-	NC_000007.14:g.19117155G>A	TOPMed,gnomAD
TWIST1	Q15672	p.Gly57Asp	rs1439939723	missense variant	-	NC_000007.14:g.19117152C>T	TOPMed
TWIST1	Q15672	p.Gly58Trp	rs1276640143	missense variant	-	NC_000007.14:g.19117150C>A	TOPMed,gnomAD
TWIST1	Q15672	p.Gly58Arg	rs1276640143	missense variant	-	NC_000007.14:g.19117150C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Gly61Ala	rs1441522390	missense variant	-	NC_000007.14:g.19117140C>G	TOPMed
TWIST1	Q15672	p.Gly63Ser	rs1352606643	missense variant	-	NC_000007.14:g.19117135C>T	gnomAD
TWIST1	Q15672	p.Glu65Ter	rs1449444508	stop gained	-	NC_000007.14:g.19117129C>A	gnomAD
TWIST1	Q15672	p.Pro66Arg	rs1447848123	missense variant	-	NC_000007.14:g.19117125G>C	TOPMed
TWIST1	Q15672	p.Pro66Ser	rs1009026530	missense variant	-	NC_000007.14:g.19117126G>A	TOPMed,gnomAD
TWIST1	Q15672	p.Pro66Thr	rs1009026530	missense variant	-	NC_000007.14:g.19117126G>T	TOPMed,gnomAD
TWIST1	Q15672	p.Gly67Asp	rs888879704	missense variant	-	NC_000007.14:g.19117122C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Gly67Ala	rs888879704	missense variant	-	NC_000007.14:g.19117122C>G	TOPMed,gnomAD
TWIST1	Q15672	p.Ser68Arg	rs1170238284	missense variant	-	NC_000007.14:g.19117118G>T	gnomAD
TWIST1	Q15672	p.Ser68Ile	rs1051003265	missense variant	-	NC_000007.14:g.19117119C>A	TOPMed,gnomAD
TWIST1	Q15672	p.Ser68Asn	rs1051003265	missense variant	-	NC_000007.14:g.19117119C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Ser68Thr	rs1051003265	missense variant	-	NC_000007.14:g.19117119C>G	TOPMed,gnomAD
TWIST1	Q15672	p.Pro69Gln	rs1477496986	missense variant	-	NC_000007.14:g.19117116G>T	gnomAD
TWIST1	Q15672	p.Ala70Ser	rs1180340591	missense variant	-	NC_000007.14:g.19117114C>A	gnomAD
TWIST1	Q15672	p.Gln71Ter	RCV000008448	nonsense	Robinow Sorauf syndrome	NC_000007.14:g.19117111G>A	ClinVar
TWIST1	Q15672	p.Gln71Ter	rs104894065	stop gained	-	NC_000007.14:g.19117111G>A	-
TWIST1	Q15672	p.Gly72Asp	rs1252602632	missense variant	-	NC_000007.14:g.19117107C>T	TOPMed
TWIST1	Q15672	p.Gly72Ser	rs1201759732	missense variant	-	NC_000007.14:g.19117108C>T	TOPMed
TWIST1	Q15672	p.Lys77Arg	rs899365191	missense variant	-	NC_000007.14:g.19117092T>C	TOPMed
TWIST1	Q15672	p.Ala79Glu	rs1210753898	missense variant	-	NC_000007.14:g.19117086G>T	gnomAD
TWIST1	Q15672	p.Ala79Val	rs1210753898	missense variant	-	NC_000007.14:g.19117086G>A	gnomAD
TWIST1	Q15672	p.Gly80Asp	rs1444006714	missense variant	-	NC_000007.14:g.19117083C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Cys81Trp	rs1183999884	missense variant	-	NC_000007.14:g.19117079A>C	TOPMed
TWIST1	Q15672	p.Gly83Ser	rs545987863	missense variant	-	NC_000007.14:g.19117075C>T	1000Genomes,ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Gly83Ser	rs545987863	missense variant	-	NC_000007.14:g.19117075C>T	UniProt,dbSNP
TWIST1	Q15672	p.Gly83Ser	VAR_077470	missense variant	-	NC_000007.14:g.19117075C>T	UniProt
TWIST1	Q15672	p.Gly84Cys	rs1310233431	missense variant	-	NC_000007.14:g.19117072C>A	TOPMed,gnomAD
TWIST1	Q15672	p.Gly84Ser	rs1310233431	missense variant	-	NC_000007.14:g.19117072C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Gly85Ser	rs1402632837	missense variant	-	NC_000007.14:g.19117069C>T	TOPMed
TWIST1	Q15672	p.Gly88Cys	rs1361338524	missense variant	-	NC_000007.14:g.19117060C>A	gnomAD
TWIST1	Q15672	p.Gly90Ser	rs1160054875	missense variant	-	NC_000007.14:g.19117054C>T	gnomAD
TWIST1	Q15672	p.Gly90Ala	rs1437382015	missense variant	-	NC_000007.14:g.19117053C>G	gnomAD
TWIST1	Q15672	p.Gly92Ser	rs948098172	missense variant	-	NC_000007.14:g.19117048C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Ser93Gly	rs925811677	missense variant	-	NC_000007.14:g.19117045T>C	TOPMed
TWIST1	Q15672	p.Ser94Asn	rs1235651232	missense variant	-	NC_000007.14:g.19117041C>T	gnomAD
TWIST1	Q15672	p.Ser95Gly	rs575299986	missense variant	-	NC_000007.14:g.19117039T>C	1000Genomes,ExAC,TOPMed
TWIST1	Q15672	p.Ser95Arg	rs1341092811	missense variant	-	NC_000007.14:g.19117037G>T	TOPMed
TWIST1	Q15672	p.Gly96Ser	rs771482968	missense variant	-	NC_000007.14:g.19117036C>T	ExAC
TWIST1	Q15672	p.Gly96Ala	rs747020030	missense variant	-	NC_000007.14:g.19117035C>G	ExAC,gnomAD
TWIST1	Q15672	p.Gly97Ser	COSM3879990	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19117033C>T	NCI-TCGA Cosmic
TWIST1	Q15672	p.Ser99Thr	rs1351710234	missense variant	-	NC_000007.14:g.19117026C>G	gnomAD
TWIST1	Q15672	p.Ser99Gly	rs1427332350	missense variant	-	NC_000007.14:g.19117027T>C	TOPMed
TWIST1	Q15672	p.Gln101His	rs779988331	missense variant	-	NC_000007.14:g.19117019C>G	ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Gln101Arg	rs369437599	missense variant	-	NC_000007.14:g.19117020T>C	ESP,ExAC,gnomAD
TWIST1	Q15672	p.Gln101Ter	RCV000698045	nonsense	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19117021G>A	ClinVar
TWIST1	Q15672	p.Gln101Ter	RCV000760816	nonsense	-	NC_000007.14:g.19117021G>A	ClinVar
TWIST1	Q15672	p.Ser102Cys	rs750252427	missense variant	-	NC_000007.14:g.19117017G>C	ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Ser102Pro	rs375193589	missense variant	-	NC_000007.14:g.19117018A>G	ESP,ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Ser102Thr	rs375193589	missense variant	-	NC_000007.14:g.19117018A>T	ESP,ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Tyr103Ter	RCV000008437	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19117014dup	ClinVar
TWIST1	Q15672	p.Tyr103Ter	RCV000008439	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19117013G>T	ClinVar
TWIST1	Q15672	p.Tyr103Ter	rs104894054	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19117013G>T	-
TWIST1	Q15672	p.Tyr103Ter	rs121909186	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19117014dup	-
TWIST1	Q15672	p.Glu104Gln	rs757253926	missense variant	-	NC_000007.14:g.19117012C>G	ExAC,gnomAD
TWIST1	Q15672	p.Glu104Lys	rs757253926	missense variant	-	NC_000007.14:g.19117012C>T	ExAC,gnomAD
TWIST1	Q15672	p.Glu104Asp	rs372098969	missense variant	-	NC_000007.14:g.19117010C>G	ESP,ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Glu104Asp	rs372098969	missense variant	-	NC_000007.14:g.19117010C>A	ESP,ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Glu105Asp	rs763711150	missense variant	-	NC_000007.14:g.19117007C>G	ExAC,gnomAD
TWIST1	Q15672	p.Leu106Val	rs1230428800	missense variant	-	NC_000007.14:g.19117006G>C	TOPMed,gnomAD
TWIST1	Q15672	p.Thr108Arg	rs202235694	missense variant	-	NC_000007.14:g.19116999G>C	gnomAD
TWIST1	Q15672	p.Gln109Ter	COSM3832456	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.19116997G>A	NCI-TCGA Cosmic
TWIST1	Q15672	p.Arg110Pro	RCV000802635	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116993C>G	ClinVar
TWIST1	Q15672	p.Arg110Pro	rs1085307555	missense variant	-	NC_000007.14:g.19116993C>G	TOPMed
TWIST1	Q15672	p.Arg110Gln	rs1085307555	missense variant	-	NC_000007.14:g.19116993C>T	TOPMed
TWIST1	Q15672	p.Val111Ile	rs202071774	missense variant	-	NC_000007.14:g.19116991C>T	gnomAD
TWIST1	Q15672	p.Met112Val	rs200933313	missense variant	-	NC_000007.14:g.19116988T>C	gnomAD
TWIST1	Q15672	p.Met112Leu	rs200933313	missense variant	-	NC_000007.14:g.19116988T>G	gnomAD
TWIST1	Q15672	p.Met112Leu	rs200933313	missense variant	-	NC_000007.14:g.19116988T>A	gnomAD
TWIST1	Q15672	p.Asn114Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.19116981T>C	NCI-TCGA
TWIST1	Q15672	p.Asn114Thr	rs1554442021	missense variant	-	NC_000007.14:g.19116981T>G	-
TWIST1	Q15672	p.Asn114Thr	RCV000653731	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116981T>G	ClinVar
TWIST1	Q15672	p.Val115Leu	rs1487469592	missense variant	-	NC_000007.14:g.19116979C>G	gnomAD
TWIST1	Q15672	p.Arg116Gly	RCV000653736	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116976G>C	ClinVar
TWIST1	Q15672	p.Arg116Gly	rs1554442019	missense variant	-	NC_000007.14:g.19116976G>C	-
TWIST1	Q15672	p.Arg116Trp	COSM3879988	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116976G>A	NCI-TCGA Cosmic
TWIST1	Q15672	p.Glu117Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.19116973C>G	NCI-TCGA
TWIST1	Q15672	p.Glu117Gly	rs1554442016	missense variant	-	NC_000007.14:g.19116972T>C	-
TWIST1	Q15672	p.Glu117Val	rs1554442016	missense variant	-	NC_000007.14:g.19116972T>A	-
TWIST1	Q15672	p.Glu117Val	rs1554442016	missense variant	Sweeney-Cox syndrome (SWCOS)	NC_000007.14:g.19116972T>A	UniProt,dbSNP
TWIST1	Q15672	p.Glu117Val	VAR_080516	missense variant	Sweeney-Cox syndrome (SWCOS)	NC_000007.14:g.19116972T>A	UniProt
TWIST1	Q15672	p.Glu117Gly	RCV000513176	missense variant	SWEENEY-COX SYNDROME (SWCOS)	NC_000007.14:g.19116972T>C	ClinVar
TWIST1	Q15672	p.Glu117Val	RCV000512820	missense variant	SWEENEY-COX SYNDROME (SWCOS)	NC_000007.14:g.19116972T>A	ClinVar
TWIST1	Q15672	p.Glu117Gly	VAR_080515	Missense	Sweeney-Cox syndrome (SWCOS) [MIM:617746]	-	UniProt
TWIST1	Q15672	p.Arg118Gly	rs1554442015	missense variant	-	NC_000007.14:g.19116970G>C	-
TWIST1	Q15672	p.Arg118His	rs1288123581	missense variant	-	NC_000007.14:g.19116969C>T	gnomAD
TWIST1	Q15672	p.Arg118Gly	RCV000625526	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116970G>C	ClinVar
TWIST1	Q15672	p.Arg118Cys	COSM1449859	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116970G>A	NCI-TCGA Cosmic
TWIST1	Q15672	p.Gln119Pro	RCV000008438	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116966T>G	ClinVar
TWIST1	Q15672	p.Gln119Pro	rs104894057	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116966T>G	-
TWIST1	Q15672	p.Gln119Pro	rs104894057	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116966T>G	UniProt,dbSNP
TWIST1	Q15672	p.Gln119Pro	VAR_004495	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116966T>G	UniProt
TWIST1	Q15672	p.Arg120Cys	rs1233220987	missense variant	-	NC_000007.14:g.19116964G>A	gnomAD
TWIST1	Q15672	p.Gln122Lys	rs1397568809	missense variant	-	NC_000007.14:g.19116958G>T	gnomAD
TWIST1	Q15672	p.Ser123Pro	rs1554442008	missense variant	-	NC_000007.14:g.19116955A>G	-
TWIST1	Q15672	p.Ser123Ter	RCV000008440	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116954G>T	ClinVar
TWIST1	Q15672	p.Ser123Ter	rs121909187	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116954G>T	-
TWIST1	Q15672	p.Ser123Pro	RCV000598314	missense variant	-	NC_000007.14:g.19116955A>G	ClinVar
TWIST1	Q15672	p.Glu126Ter	RCV000706654	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116946C>A	ClinVar
TWIST1	Q15672	p.Glu126Gly	rs1438116786	missense variant	-	NC_000007.14:g.19116945T>C	gnomAD
TWIST1	Q15672	p.Glu126Ter	rs121909188	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116946C>A	-
TWIST1	Q15672	p.Glu126Ter	RCV000008441	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116946C>A	ClinVar
TWIST1	Q15672	p.Ala127Val	COSM600326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116942G>A	NCI-TCGA Cosmic
TWIST1	Q15672	p.Ala129Ser	rs774655051	missense variant	-	NC_000007.14:g.19116937C>A	ExAC,gnomAD
TWIST1	Q15672	p.Ala129Asp	rs1295087857	missense variant	-	NC_000007.14:g.19116936G>T	TOPMed,gnomAD
TWIST1	Q15672	p.Ala129Pro	rs774655051	missense variant	-	NC_000007.14:g.19116937C>G	ExAC,gnomAD
TWIST1	Q15672	p.Ala130Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.19116934C>T	NCI-TCGA
TWIST1	Q15672	p.Leu131Pro	RCV000008442	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116930A>G	ClinVar
TWIST1	Q15672	p.Leu131Pro	rs121909189	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116930A>G	UniProt,dbSNP
TWIST1	Q15672	p.Leu131Pro	VAR_004496	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116930A>G	UniProt
TWIST1	Q15672	p.Leu131Pro	rs121909189	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116930A>G	-
TWIST1	Q15672	p.Arg132Pro	rs1554441995	missense variant	-	NC_000007.14:g.19116927C>G	-
TWIST1	Q15672	p.Arg132Pro	RCV000526309	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116927C>G	ClinVar
TWIST1	Q15672	p.Ile135Val	rs1192029769	missense variant	-	NC_000007.14:g.19116919T>C	gnomAD
TWIST1	Q15672	p.Ile135insIleAlaAlaLeuArgLysIleIle	VAR_004497	inframe_insertion	Saethre-Chotzen syndrome (SCS) [MIM:101400]	-	UniProt
TWIST1	Q15672	p.Pro136His	COSM745583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116915G>T	NCI-TCGA Cosmic
TWIST1	Q15672	p.Thr137Ter	RCV000653734	frameshift	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116917dup	ClinVar
TWIST1	Q15672	p.Pro139insProLysIleIleProThrLeuPro	VAR_004498	inframe_insertion	Saethre-Chotzen syndrome (SCS) [MIM:101400]	-	UniProt
TWIST1	Q15672	p.Ser140Ter	RCV000579299	nonsense	-	NC_000007.14:g.19116903G>T	ClinVar
TWIST1	Q15672	p.Ser140Ter	rs1554441987	stop gained	-	NC_000007.14:g.19116903G>T	-
TWIST1	Q15672	p.Ser140Ter	RCV000687499	nonsense	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116904_19116924dup	ClinVar
TWIST1	Q15672	p.Lys142Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.19116897T>G	NCI-TCGA
TWIST1	Q15672	p.Ile146Met	COSM1088200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116884A>C	NCI-TCGA Cosmic
TWIST1	Q15672	p.Gln147Glu	rs757839483	missense variant	-	NC_000007.14:g.19116883G>C	ExAC,gnomAD
TWIST1	Q15672	p.Lys150Asn	rs754664781	missense variant	-	NC_000007.14:g.19116872C>G	ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Ala152Glu	RCV000539175	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116867G>T	ClinVar
TWIST1	Q15672	p.Ala152Thr	rs754179756	missense variant	-	NC_000007.14:g.19116868C>T	ExAC,gnomAD
TWIST1	Q15672	p.Ala152Glu	rs1554441982	missense variant	-	NC_000007.14:g.19116867G>T	-
TWIST1	Q15672	p.Arg154Ser	rs773699341	missense variant	-	NC_000007.14:g.19116860C>A	ExAC,gnomAD
TWIST1	Q15672	p.Ile156Val	RCV000008446	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116856T>C	ClinVar
TWIST1	Q15672	p.Ile156Val	rs104894059	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116856T>C	UniProt,dbSNP
TWIST1	Q15672	p.Ile156Val	VAR_015219	missense variant	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116856T>C	UniProt
TWIST1	Q15672	p.Ile156Val	rs104894059	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116856T>C	-
TWIST1	Q15672	p.Ile156Met	rs73079388	missense variant	-	NC_000007.14:g.19116854G>C	1000Genomes,ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Phe158Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.19116850A>C	NCI-TCGA
TWIST1	Q15672	p.Leu159Phe	RCV000693539	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116847G>A	ClinVar
TWIST1	Q15672	p.Gln161Glu	rs1372603694	missense variant	-	NC_000007.14:g.19116841G>C	gnomAD
TWIST1	Q15672	p.Ser165Asn	rs749574847	missense variant	-	NC_000007.14:g.19116828C>T	ExAC,gnomAD
TWIST1	Q15672	p.Ser165Thr	COSM6177444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116828C>G	NCI-TCGA Cosmic
TWIST1	Q15672	p.Asp166Asn	rs776280385	missense variant	-	NC_000007.14:g.19116826C>T	ExAC,gnomAD
TWIST1	Q15672	p.Glu167Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.19116822T>G	NCI-TCGA
TWIST1	Q15672	p.Glu167Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.19116823C>A	NCI-TCGA
TWIST1	Q15672	p.Glu167Gln	rs1240371620	missense variant	-	NC_000007.14:g.19116823C>G	TOPMed,gnomAD
TWIST1	Q15672	p.Glu167Lys	rs1240371620	missense variant	-	NC_000007.14:g.19116823C>T	TOPMed,gnomAD
TWIST1	Q15672	p.Lys171Arg	rs746786963	missense variant	-	NC_000007.14:g.19116810T>C	ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Met172Ile	rs777710395	missense variant	-	NC_000007.14:g.19116806C>T	ExAC,gnomAD
TWIST1	Q15672	p.Ala173Val	rs1363931970	missense variant	-	NC_000007.14:g.19116804G>A	TOPMed,gnomAD
TWIST1	Q15672	p.Ser174Gly	rs1264131515	missense variant	-	NC_000007.14:g.19116802T>C	TOPMed
TWIST1	Q15672	p.Tyr177Cys	rs1310135591	missense variant	-	NC_000007.14:g.19116792T>C	gnomAD
TWIST1	Q15672	p.His180Asp	rs374993339	missense variant	-	NC_000007.14:g.19116784G>C	ESP,ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Glu181Ter	RCV000008444	nonsense	Saethre-Chotzen syndrome (SCS)	NC_000007.14:g.19116781C>A	ClinVar
TWIST1	Q15672	p.Glu181Ter	rs104894058	stop gained	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116781C>A	1000Genomes,ExAC,gnomAD
TWIST1	Q15672	p.Glu181Lys	rs104894058	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116781C>T	1000Genomes,ExAC,gnomAD
TWIST1	Q15672	p.Glu181Ter	rs104894058	stop gained	-	NC_000007.14:g.19116781C>A	NCI-TCGA,NCI-TCGA Cosmic
TWIST1	Q15672	p.Glu181Lys	rs104894058	missense variant	-	NC_000007.14:g.19116781C>T	NCI-TCGA Cosmic
TWIST1	Q15672	p.Glu181Gln	rs104894058	missense variant	Saethre-chotzen syndrome (scs)	NC_000007.14:g.19116781C>G	1000Genomes,ExAC,gnomAD
TWIST1	Q15672	p.Ser184Ile	COSM3832455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116771C>A	NCI-TCGA Cosmic
TWIST1	Q15672	p.Ser184Gly	COSM3637096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.19116772T>C	NCI-TCGA Cosmic
TWIST1	Q15672	p.Ala186Thr	RCV000008449	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116766C>T	ClinVar
TWIST1	Q15672	p.Ala186Thr	rs121909190	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116766C>T	UniProt,dbSNP
TWIST1	Q15672	p.Ala186Thr	VAR_034985	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116766C>T	UniProt
TWIST1	Q15672	p.Ala186Thr	rs121909190	missense variant	-	NC_000007.14:g.19116766C>T	-
TWIST1	Q15672	p.Phe187Ser	rs1554441944	missense variant	-	NC_000007.14:g.19116762A>G	-
TWIST1	Q15672	p.Phe187Ser	RCV000653732	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116762A>G	ClinVar
TWIST1	Q15672	p.Ser188Leu	RCV000008450	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116759G>A	ClinVar
TWIST1	Q15672	p.Ser188Trp	rs121909191	missense variant	-	NC_000007.14:g.19116759G>C	gnomAD
TWIST1	Q15672	p.Ser188Leu	rs121909191	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116759G>A	UniProt,dbSNP
TWIST1	Q15672	p.Ser188Leu	VAR_034986	missense variant	Craniosynostosis 1 (CRS1)	NC_000007.14:g.19116759G>A	UniProt
TWIST1	Q15672	p.Ser188Leu	rs121909191	missense variant	-	NC_000007.14:g.19116759G>A	gnomAD
TWIST1	Q15672	p.Val189Ala	rs1303554812	missense variant	-	NC_000007.14:g.19116756A>G	gnomAD
TWIST1	Q15672	p.Trp190Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.19116753C>T	NCI-TCGA
TWIST1	Q15672	p.Trp190Ter	rs753590887	stop gained	-	NC_000007.14:g.19116752C>T	ExAC,gnomAD
TWIST1	Q15672	p.Arg191Trp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.19116751T>A	NCI-TCGA
TWIST1	Q15672	p.Arg191Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.19116751T>C	NCI-TCGA
TWIST1	Q15672	p.Arg191Ser	rs200097632	missense variant	-	NC_000007.14:g.19116749C>G	gnomAD
TWIST1	Q15672	p.Glu193Lys	rs1420485349	missense variant	-	NC_000007.14:g.19116745C>T	gnomAD
TWIST1	Q15672	p.Ala195Thr	rs1181554043	missense variant	-	NC_000007.14:g.19116739C>T	TOPMed
TWIST1	Q15672	p.Ala195Val	rs1419074080	missense variant	-	NC_000007.14:g.19116738G>A	gnomAD
TWIST1	Q15672	p.Trp196Arg	rs1183147495	missense variant	-	NC_000007.14:g.19116736A>T	gnomAD
TWIST1	Q15672	p.Met198Leu	rs768094186	missense variant	-	NC_000007.14:g.19116730T>G	ExAC,gnomAD
TWIST1	Q15672	p.Met198Val	rs768094186	missense variant	-	NC_000007.14:g.19116730T>C	ExAC,gnomAD
TWIST1	Q15672	p.Ser199Tyr	rs1370066657	missense variant	-	NC_000007.14:g.19116726G>T	TOPMed
TWIST1	Q15672	p.Ala200Thr	rs762445986	missense variant	-	NC_000007.14:g.19116724C>T	ExAC,TOPMed,gnomAD
TWIST1	Q15672	p.Ala200Val	rs375138242	missense variant	-	NC_000007.14:g.19116723G>A	ESP,ExAC,gnomAD
TWIST1	Q15672	p.Ala200Gly	rs375138242	missense variant	-	NC_000007.14:g.19116723G>C	ESP,ExAC,gnomAD
TWIST1	Q15672	p.Ala200Thr	rs762445986	missense variant	-	NC_000007.14:g.19116724C>T	NCI-TCGA,NCI-TCGA Cosmic
TWIST1	Q15672	p.Ser201Phe	rs1341039131	missense variant	-	NC_000007.14:g.19116720G>A	gnomAD
ALX1	Q15699	p.Ser5Arg	rs763849212	missense variant	-	NC_000012.12:g.85280276C>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Lys7Met	rs1004003622	missense variant	-	NC_000012.12:g.85280281A>T	TOPMed
ALX1	Q15699	p.Lys7Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280281A>G	NCI-TCGA
ALX1	Q15699	p.Lys7Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280281A>C	NCI-TCGA
ALX1	Q15699	p.Phe8Ser	rs1435940451	missense variant	-	NC_000012.12:g.85280284T>C	TOPMed
ALX1	Q15699	p.Ala9Val	rs376214478	missense variant	-	NC_000012.12:g.85280287C>T	ESP,ExAC,gnomAD
ALX1	Q15699	p.Leu10Phe	rs1213627097	missense variant	-	NC_000012.12:g.85280289C>T	gnomAD
ALX1	Q15699	p.Lys11Glu	rs750759166	missense variant	-	NC_000012.12:g.85280292A>G	ExAC,gnomAD
ALX1	Q15699	p.Ser12Ile	rs1205596156	missense variant	-	NC_000012.12:g.85280296G>T	TOPMed
ALX1	Q15699	p.Pro13Ser	rs759032123	missense variant	-	NC_000012.12:g.85280298C>T	ExAC,gnomAD
ALX1	Q15699	p.Pro13Arg	rs780416730	missense variant	-	NC_000012.12:g.85280299C>G	ExAC,gnomAD
ALX1	Q15699	p.Ser15Arg	rs1210273098	missense variant	-	NC_000012.12:g.85280304A>C	gnomAD
ALX1	Q15699	p.Ser15Asn	rs1015342746	missense variant	-	NC_000012.12:g.85280305G>A	TOPMed,gnomAD
ALX1	Q15699	p.Asn17Thr	rs1218224142	missense variant	-	NC_000012.12:g.85280311A>C	TOPMed
ALX1	Q15699	p.Ser18Gly	rs1195488858	missense variant	-	NC_000012.12:g.85280313A>G	gnomAD
ALX1	Q15699	p.Asp19Ala	rs1424083961	missense variant	-	NC_000012.12:g.85280317A>C	gnomAD
ALX1	Q15699	p.Asp19His	rs768593991	missense variant	-	NC_000012.12:g.85280316G>C	ExAC
ALX1	Q15699	p.Asp19Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280318C>A	NCI-TCGA
ALX1	Q15699	p.Met22Ile	rs1427573821	missense variant	-	NC_000012.12:g.85280327G>C	gnomAD
ALX1	Q15699	p.Met22Arg	rs1171032168	missense variant	-	NC_000012.12:g.85280326T>G	gnomAD
ALX1	Q15699	p.Met22Ile	rs1427573821	missense variant	-	NC_000012.12:g.85280327G>A	gnomAD
ALX1	Q15699	p.Gly26Asp	rs1276039534	missense variant	-	NC_000012.12:g.85280338G>A	TOPMed
ALX1	Q15699	p.Gly26Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280337G>T	NCI-TCGA
ALX1	Q15699	p.Pro27Thr	rs1236266838	missense variant	-	NC_000012.12:g.85280340C>A	TOPMed
ALX1	Q15699	p.Pro27Arg	rs201314651	missense variant	-	NC_000012.12:g.85280341C>G	1000Genomes
ALX1	Q15699	p.Leu28Pro	rs1317761911	missense variant	-	NC_000012.12:g.85280344T>C	TOPMed,gnomAD
ALX1	Q15699	p.Leu28Gln	rs1317761911	missense variant	-	NC_000012.12:g.85280344T>A	TOPMed,gnomAD
ALX1	Q15699	p.Glu29Gly	rs781280416	missense variant	-	NC_000012.12:g.85280347A>G	ExAC,gnomAD
ALX1	Q15699	p.His30Tyr	COSM695584	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85280349C>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Val31Ile	rs748403633	missense variant	-	NC_000012.12:g.85280352G>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val31Leu	rs748403633	missense variant	-	NC_000012.12:g.85280352G>C	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val31Phe	rs748403633	missense variant	-	NC_000012.12:g.85280352G>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val31Asp	rs769939946	missense variant	-	NC_000012.12:g.85280353T>A	ExAC
ALX1	Q15699	p.Thr34Ser	rs368906149	missense variant	-	NC_000012.12:g.85280361A>T	ESP,TOPMed,gnomAD
ALX1	Q15699	p.Thr34Met	rs774149369	missense variant	-	NC_000012.12:g.85280362C>T	NCI-TCGA,NCI-TCGA Cosmic
ALX1	Q15699	p.Thr34Met	rs774149369	missense variant	-	NC_000012.12:g.85280362C>T	ExAC,gnomAD
ALX1	Q15699	p.Thr34Arg	rs774149369	missense variant	-	NC_000012.12:g.85280362C>G	ExAC,gnomAD
ALX1	Q15699	p.Leu35Met	rs1272696646	missense variant	-	NC_000012.12:g.85280364C>A	TOPMed,gnomAD
ALX1	Q15699	p.Leu35Val	rs1272696646	missense variant	-	NC_000012.12:g.85280364C>G	TOPMed,gnomAD
ALX1	Q15699	p.Leu35Arg	rs1346715045	missense variant	-	NC_000012.12:g.85280365T>G	TOPMed,gnomAD
ALX1	Q15699	p.Asp36His	COSM3813142	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85280367G>C	NCI-TCGA Cosmic
ALX1	Q15699	p.Asn37Ser	rs775260906	missense variant	-	NC_000012.12:g.85280371A>G	ExAC
ALX1	Q15699	p.Asn37Asp	rs372544988	missense variant	-	NC_000012.12:g.85280370A>G	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Glu38Lys	rs376329142	missense variant	-	NC_000012.12:g.85280373G>A	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Glu38Asp	rs369826150	missense variant	-	NC_000012.12:g.85280375G>C	ESP,TOPMed
ALX1	Q15699	p.Phe40Leu	rs1263900936	missense variant	-	NC_000012.12:g.85280379T>C	gnomAD
ALX1	Q15699	p.Tyr41Asp	rs1450790066	missense variant	-	NC_000012.12:g.85280382T>G	TOPMed,gnomAD
ALX1	Q15699	p.Tyr41Phe	rs1196537753	missense variant	-	NC_000012.12:g.85280383A>T	gnomAD
ALX1	Q15699	p.Ser42Gly	rs776213513	missense variant	-	NC_000012.12:g.85280385A>G	ExAC
ALX1	Q15699	p.Ser42Thr	rs148136812	missense variant	-	NC_000012.12:g.85280386G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ser42Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280386G>A	NCI-TCGA
ALX1	Q15699	p.Ala44Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280392C>T	NCI-TCGA
ALX1	Q15699	p.Ser45Phe	rs986158806	missense variant	-	NC_000012.12:g.85280395C>T	TOPMed
ALX1	Q15699	p.Ala46Glu	rs764969720	missense variant	-	NC_000012.12:g.85280398C>A	ExAC,gnomAD
ALX1	Q15699	p.Cys49Ser	rs914521573	missense variant	-	NC_000012.12:g.85280407G>C	TOPMed
ALX1	Q15699	p.Cys49Ser	rs1243906545	missense variant	-	NC_000012.12:g.85280406T>A	TOPMed,gnomAD
ALX1	Q15699	p.Val50Leu	rs766955975	missense variant	-	NC_000012.12:g.85280409G>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val50Gly	rs150692244	missense variant	-	NC_000012.12:g.85280410T>G	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val50Ala	rs150692244	missense variant	-	NC_000012.12:g.85280410T>C	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val50Met	rs766955975	missense variant	-	NC_000012.12:g.85280409G>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Gln51Arg	rs748172443	missense variant	-	NC_000012.12:g.85280413A>G	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Gln51Lys	rs781138367	missense variant	-	NC_000012.12:g.85280412C>A	ExAC,gnomAD
ALX1	Q15699	p.Gln51Pro	rs748172443	missense variant	-	NC_000012.12:g.85280413A>C	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ala52Asp	rs1332394039	missense variant	-	NC_000012.12:g.85280416C>A	gnomAD
ALX1	Q15699	p.Phe53Leu	rs1436761407	missense variant	-	NC_000012.12:g.85280418T>C	gnomAD
ALX1	Q15699	p.Phe53Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280418T>G	NCI-TCGA
ALX1	Q15699	p.Gly54Arg	rs1308148913	missense variant	-	NC_000012.12:g.85280421G>C	gnomAD
ALX1	Q15699	p.Gly54Val	rs756389093	missense variant	-	NC_000012.12:g.85280422G>T	ExAC,gnomAD
ALX1	Q15699	p.Gly54Glu	rs756389093	missense variant	-	NC_000012.12:g.85280422G>A	ExAC,gnomAD
ALX1	Q15699	p.Pro55Thr	rs1241736578	missense variant	-	NC_000012.12:g.85280424C>A	gnomAD
ALX1	Q15699	p.Pro57His	COSM6138370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85280431C>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Pro57Leu	rs1447780227	missense variant	-	NC_000012.12:g.85280431C>T	TOPMed
ALX1	Q15699	p.Arg58His	rs768579174	missense variant	-	NC_000012.12:g.85280434G>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg58Leu	rs768579174	missense variant	-	NC_000012.12:g.85280434G>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg58Gly	rs138946669	missense variant	-	NC_000012.12:g.85280433C>G	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ala59Val	rs1452025009	missense variant	-	NC_000012.12:g.85280437C>T	gnomAD
ALX1	Q15699	p.Glu60Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280439G>C	NCI-TCGA
ALX1	Q15699	p.His61Arg	rs115440539	missense variant	-	NC_000012.12:g.85280443A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.His62Gln	rs772972571	missense variant	-	NC_000012.12:g.85280447C>G	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val63Met	rs1048636970	missense variant	-	NC_000012.12:g.85280448G>A	TOPMed,gnomAD
ALX1	Q15699	p.Val63Leu	rs1048636970	missense variant	-	NC_000012.12:g.85280448G>T	TOPMed,gnomAD
ALX1	Q15699	p.Arg64Cys	rs145944049	missense variant	-	NC_000012.12:g.85280451C>T	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg64His	rs115596276	missense variant	-	NC_000012.12:g.85280452G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg64Leu	RCV000353018	missense variant	-	NC_000012.12:g.85280452G>T	ClinVar
ALX1	Q15699	p.Arg64Gly	rs145944049	missense variant	-	NC_000012.12:g.85280451C>G	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg64Cys	RCV000195110	missense variant	-	NC_000012.12:g.85280451C>T	ClinVar
ALX1	Q15699	p.Arg64Ser	rs145944049	missense variant	-	NC_000012.12:g.85280451C>A	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg64Leu	rs115596276	missense variant	-	NC_000012.12:g.85280452G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Leu65Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280456G>C	NCI-TCGA
ALX1	Q15699	p.Leu65Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280455T>C	NCI-TCGA
ALX1	Q15699	p.Glu66Asp	rs1330229863	missense variant	-	NC_000012.12:g.85280459G>C	TOPMed,gnomAD
ALX1	Q15699	p.Glu66Gln	rs751887592	missense variant	-	NC_000012.12:g.85280457G>C	ExAC,gnomAD
ALX1	Q15699	p.Arg67Met	rs561233322	missense variant	-	NC_000012.12:g.85280461G>T	1000Genomes,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Thr68Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85280463A>G	NCI-TCGA
ALX1	Q15699	p.Ser69Leu	rs1309358656	missense variant	-	NC_000012.12:g.85280467C>T	TOPMed,gnomAD
ALX1	Q15699	p.Cys71Gly	rs777754230	missense variant	-	NC_000012.12:g.85280472T>G	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Cys71Ser	rs777754230	missense variant	-	NC_000012.12:g.85280472T>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ser74Arg	rs1285955190	missense variant	-	NC_000012.12:g.85280483C>G	gnomAD
ALX1	Q15699	p.Ser74Gly	rs1228104463	missense variant	-	NC_000012.12:g.85280481A>G	TOPMed
ALX1	Q15699	p.Ser75Arg	rs778019022	missense variant	-	NC_000012.12:g.85280486C>G	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val76Leu	rs749536472	missense variant	-	NC_000012.12:g.85280487G>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val76Met	rs749536472	missense variant	-	NC_000012.12:g.85280487G>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Asn77Lys	rs769785667	missense variant	-	NC_000012.12:g.85283576C>G	ExAC,gnomAD
ALX1	Q15699	p.Lys82Glu	rs748821759	missense variant	-	NC_000012.12:g.85283589A>G	ExAC,gnomAD
ALX1	Q15699	p.Val83Ala	rs1200413690	missense variant	-	NC_000012.12:g.85283593T>C	TOPMed
ALX1	Q15699	p.Gly85Glu	rs770560371	missense variant	-	NC_000012.12:g.85283599G>A	ExAC,gnomAD
ALX1	Q15699	p.Gln86Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.85283601C>T	NCI-TCGA
ALX1	Q15699	p.Pro87His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283605C>A	NCI-TCGA
ALX1	Q15699	p.Pro87Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283604C>A	NCI-TCGA
ALX1	Q15699	p.His89Arg	rs75478848	missense variant	-	NC_000012.12:g.85283611A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Thr90Ser	COSM6138369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283614C>G	NCI-TCGA Cosmic
ALX1	Q15699	p.Thr90Pro	rs759868076	missense variant	-	NC_000012.12:g.85283613A>C	ExAC,gnomAD
ALX1	Q15699	p.Glu91Lys	COSM944114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283616G>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Asn93His	rs772449913	missense variant	-	NC_000012.12:g.85283622A>C	ExAC,gnomAD
ALX1	Q15699	p.Arg94Ser	rs575084641	missense variant	-	NC_000012.12:g.85283627A>C	1000Genomes,ExAC,gnomAD
ALX1	Q15699	p.Arg94Gly	rs559747219	missense variant	-	NC_000012.12:g.85283625A>G	1000Genomes,ExAC,gnomAD
ALX1	Q15699	p.Arg94Thr	rs1431104064	missense variant	-	NC_000012.12:g.85283626G>C	gnomAD
ALX1	Q15699	p.Met96Val	rs1395145091	missense variant	-	NC_000012.12:g.85283631A>G	TOPMed,gnomAD
ALX1	Q15699	p.Met96Lys	rs753930662	missense variant	-	NC_000012.12:g.85283632T>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Asp97Ala	COSM3417233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283635A>C	NCI-TCGA Cosmic
ALX1	Q15699	p.Asn98Ile	rs946319311	missense variant	-	NC_000012.12:g.85283638A>T	TOPMed
ALX1	Q15699	p.Asn100Lys	COSM3782771	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283645C>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Asn100Asp	rs369322898	missense variant	-	NC_000012.12:g.85283643A>G	ExAC,gnomAD
ALX1	Q15699	p.Leu102Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283649C>T	NCI-TCGA
ALX1	Q15699	p.Arg103Gln	COSM6073861	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283653G>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Arg103Ter	rs1454076521	stop gained	-	NC_000012.12:g.85283652C>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Arg103Ter	rs1454076521	stop gained	-	NC_000012.12:g.85283652C>T	gnomAD
ALX1	Q15699	p.Met104Ile	rs1292757924	missense variant	-	NC_000012.12:g.85283657G>A	gnomAD
ALX1	Q15699	p.Ser105Cys	rs1376906850	missense variant	-	NC_000012.12:g.85283659C>G	TOPMed
ALX1	Q15699	p.Val107Leu	rs750676414	missense variant	-	NC_000012.12:g.85283664G>T	NCI-TCGA,NCI-TCGA Cosmic
ALX1	Q15699	p.Val107Leu	rs750676414	missense variant	-	NC_000012.12:g.85283664G>T	ExAC,gnomAD
ALX1	Q15699	p.Val107Leu	rs750676414	missense variant	-	NC_000012.12:g.85283664G>C	ExAC,gnomAD
ALX1	Q15699	p.Lys108Arg	rs1304532595	missense variant	-	NC_000012.12:g.85283668A>G	gnomAD
ALX1	Q15699	p.Met110Val	rs1449588129	missense variant	-	NC_000012.12:g.85283673A>G	TOPMed
ALX1	Q15699	p.Met110Thr	rs752484974	missense variant	-	NC_000012.12:g.85283674T>C	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Met110Ile	rs1238124604	missense variant	-	NC_000012.12:g.85283675G>C	gnomAD
ALX1	Q15699	p.Met110Lys	rs752484974	missense variant	-	NC_000012.12:g.85283674T>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Glu112Lys	COSM4922990	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283679G>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Lys113Arg	rs1288725679	missense variant	-	NC_000012.12:g.85283683A>G	gnomAD
ALX1	Q15699	p.Gly114Glu	rs374720581	missense variant	-	NC_000012.12:g.85283686G>A	ESP,ExAC,gnomAD
ALX1	Q15699	p.Leu116Met	rs748794206	missense variant	-	NC_000012.12:g.85283691C>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Leu119His	rs148452184	missense variant	-	NC_000012.12:g.85283701T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Leu119Arg	rs148452184	missense variant	-	NC_000012.12:g.85283701T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Gly120Glu	rs771647506	missense variant	-	NC_000012.12:g.85283704G>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Asp124Tyr	rs747368629	missense variant	-	NC_000012.12:g.85283715G>T	ExAC,gnomAD
ALX1	Q15699	p.Ser125Arg	rs1163736275	missense variant	-	NC_000012.12:g.85283718A>C	gnomAD
ALX1	Q15699	p.Asn126Ser	rs1347898854	missense variant	-	NC_000012.12:g.85283722A>G	TOPMed,gnomAD
ALX1	Q15699	p.Val127Leu	rs142639950	missense variant	-	NC_000012.12:g.85283724G>C	ESP
ALX1	Q15699	p.Val127Ala	rs777173766	missense variant	-	NC_000012.12:g.85283725T>C	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ser128Cys	COSM695581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283728C>G	NCI-TCGA Cosmic
ALX1	Q15699	p.Ser128Pro	rs762173567	missense variant	-	NC_000012.12:g.85283727T>C	ExAC,gnomAD
ALX1	Q15699	p.Ser128Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283728C>T	NCI-TCGA
ALX1	Q15699	p.Lys131Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283736A>G	NCI-TCGA
ALX1	Q15699	p.Arg133Gln	rs765386152	missense variant	-	NC_000012.12:g.85283743G>A	NCI-TCGA
ALX1	Q15699	p.Arg133Gln	rs765386152	missense variant	-	NC_000012.12:g.85283743G>A	ExAC,gnomAD
ALX1	Q15699	p.His135Tyr	rs1374617547	missense variant	-	NC_000012.12:g.85283748C>T	gnomAD
ALX1	Q15699	p.His135Tyr	rs1374617547	missense variant	-	NC_000012.12:g.85283748C>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Arg136Ter	rs1228243856	stop gained	-	NC_000012.12:g.85283751C>T	TOPMed,gnomAD
ALX1	Q15699	p.Arg136Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283752G>A	NCI-TCGA
ALX1	Q15699	p.Thr137Ile	rs1311287299	missense variant	-	NC_000012.12:g.85283755C>T	gnomAD
ALX1	Q15699	p.Thr138Ile	rs1008969707	missense variant	-	NC_000012.12:g.85283758C>T	TOPMed
ALX1	Q15699	p.Thr138Ile	RCV000502614	missense variant	-	NC_000012.12:g.85283758C>T	ClinVar
ALX1	Q15699	p.Phe139Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283760T>G	NCI-TCGA
ALX1	Q15699	p.Leu142Ser	rs1273369108	missense variant	-	NC_000012.12:g.85283770T>C	gnomAD
ALX1	Q15699	p.Gln143Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283772C>A	NCI-TCGA
ALX1	Q15699	p.Leu144Arg	rs763991137	missense variant	-	NC_000012.12:g.85283776T>G	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Leu144Val	rs552239444	missense variant	-	NC_000012.12:g.85283775C>G	1000Genomes,ExAC,gnomAD
ALX1	Q15699	p.Glu145Lys	rs1287504419	missense variant	-	NC_000012.12:g.85283778G>A	TOPMed
ALX1	Q15699	p.Leu147Met	rs753836143	missense variant	-	NC_000012.12:g.85283784C>A	ExAC
ALX1	Q15699	p.Lys149Arg	rs1470251062	missense variant	-	NC_000012.12:g.85283791A>G	gnomAD
ALX1	Q15699	p.Lys149Asn	rs1181179187	missense variant	-	NC_000012.12:g.85283792A>T	gnomAD
ALX1	Q15699	p.Lys149Asn	rs1181179187	missense variant	-	NC_000012.12:g.85283792A>T	NCI-TCGA
ALX1	Q15699	p.Lys153Arg	rs778492065	missense variant	-	NC_000012.12:g.85283803A>G	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Thr154Ala	rs1312565742	missense variant	-	NC_000012.12:g.85283805A>G	TOPMed
ALX1	Q15699	p.His155Arg	COSM944116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283809A>G	NCI-TCGA Cosmic
ALX1	Q15699	p.Pro157Leu	rs1423105126	missense variant	-	NC_000012.12:g.85283815C>T	gnomAD
ALX1	Q15699	p.Pro157Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283814C>T	NCI-TCGA
ALX1	Q15699	p.Asp158Tyr	COSM6138368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283817G>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Asp158Val	rs779648569	missense variant	-	NC_000012.12:g.85283818A>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Asp158Ala	rs779648569	missense variant	-	NC_000012.12:g.85283818A>C	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val159Leu	COSM1513428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283820G>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Val159Met	rs769088038	missense variant	-	NC_000012.12:g.85283820G>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Tyr160Phe	rs1160528230	missense variant	-	NC_000012.12:g.85283824A>T	TOPMed
ALX1	Q15699	p.Val161Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283827T>C	NCI-TCGA
ALX1	Q15699	p.Gln164His	rs776816728	missense variant	-	NC_000012.12:g.85283837G>C	ExAC,gnomAD
ALX1	Q15699	p.Leu165Val	rs1234238828	missense variant	-	NC_000012.12:g.85283838C>G	gnomAD
ALX1	Q15699	p.Ala166Val	COSM944117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283842C>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Leu167Gln	rs770139268	missense variant	-	NC_000012.12:g.85283845T>A	ExAC,gnomAD
ALX1	Q15699	p.Leu167Pro	rs770139268	missense variant	-	NC_000012.12:g.85283845T>C	ExAC,gnomAD
ALX1	Q15699	p.Glu173Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85283864G>T	NCI-TCGA
ALX1	Q15699	p.Ala174Val	COSM3968472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85283866C>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Ala174Ser	rs1437884742	missense variant	-	NC_000012.12:g.85283865G>T	gnomAD
ALX1	Q15699	p.Trp179Ser	rs1329804216	missense variant	-	NC_000012.12:g.85286857G>C	TOPMed
ALX1	Q15699	p.Trp179Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85286858G>T	NCI-TCGA
ALX1	Q15699	p.Arg183Ter	rs150997122	stop gained	-	NC_000012.12:g.85286868C>T	NCI-TCGA,NCI-TCGA Cosmic
ALX1	Q15699	p.Arg183Gln	rs1487171239	missense variant	-	NC_000012.12:g.85286869G>A	gnomAD
ALX1	Q15699	p.Arg183Ter	rs150997122	stop gained	-	NC_000012.12:g.85286868C>T	ESP,ExAC,gnomAD
ALX1	Q15699	p.Arg184Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85286871A>G	NCI-TCGA
ALX1	Q15699	p.Arg184Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85286872G>A	NCI-TCGA
ALX1	Q15699	p.Trp187Arg	rs1242874318	missense variant	-	NC_000012.12:g.85286880T>A	TOPMed,gnomAD
ALX1	Q15699	p.Trp187Arg	rs1242874318	missense variant	-	NC_000012.12:g.85286880T>C	TOPMed,gnomAD
ALX1	Q15699	p.Arg190Thr	rs1048186835	missense variant	-	NC_000012.12:g.85286890G>C	TOPMed,gnomAD
ALX1	Q15699	p.Arg192His	rs1030258242	missense variant	-	NC_000012.12:g.85286896G>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Arg192Ser	rs778396653	missense variant	-	NC_000012.12:g.85286895C>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg192His	rs1030258242	missense variant	-	NC_000012.12:g.85286896G>A	TOPMed,gnomAD
ALX1	Q15699	p.Arg192Cys	rs778396653	missense variant	-	NC_000012.12:g.85286895C>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg192Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85286896G>T	NCI-TCGA
ALX1	Q15699	p.Gly194Ser	rs888180516	missense variant	-	NC_000012.12:g.85286901G>A	TOPMed
ALX1	Q15699	p.Gly194Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85286902G>A	NCI-TCGA
ALX1	Q15699	p.Ile196Met	rs758426051	missense variant	-	NC_000012.12:g.85286909A>G	gnomAD
ALX1	Q15699	p.Ile196Val	rs1435489604	missense variant	-	NC_000012.12:g.85286907A>G	gnomAD
ALX1	Q15699	p.Ile196Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85286908T>C	NCI-TCGA
ALX1	Q15699	p.Ala199Ser	rs771162169	missense variant	-	NC_000012.12:g.85286916G>T	ExAC,gnomAD
ALX1	Q15699	p.Ala199Val	rs144593505	missense variant	-	NC_000012.12:g.85286917C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ala199Val	rs144593505	missense variant	-	NC_000012.12:g.85286917C>T	NCI-TCGA,NCI-TCGA Cosmic
ALX1	Q15699	p.Ser201Ile	rs772128403	missense variant	-	NC_000012.12:g.85286923G>T	ExAC,gnomAD
ALX1	Q15699	p.Phe203Ser	rs1435295887	missense variant	-	NC_000012.12:g.85286929T>C	gnomAD
ALX1	Q15699	p.Ala204Gly	rs776549338	missense variant	-	NC_000012.12:g.85286932C>G	ExAC,gnomAD
ALX1	Q15699	p.Thr206Ile	rs761480438	missense variant	-	NC_000012.12:g.85286938C>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Tyr207Cys	rs1234441583	missense variant	-	NC_000012.12:g.85286941A>G	gnomAD
ALX1	Q15699	p.Tyr207Ter	COSM78867	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.85286942T>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Asp208Gly	rs1252542249	missense variant	-	NC_000012.12:g.85286944A>G	gnomAD
ALX1	Q15699	p.Asp208Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85286944A>C	NCI-TCGA
ALX1	Q15699	p.Ile209Val	rs765267498	missense variant	-	NC_000012.12:g.85286946A>G	ExAC,gnomAD
ALX1	Q15699	p.Pro213Ser	rs1349314317	missense variant	-	NC_000012.12:g.85286958C>T	TOPMed
ALX1	Q15699	p.Arg214Ser	rs1284706850	missense variant	-	NC_000012.12:g.85286963G>C	TOPMed,gnomAD
ALX1	Q15699	p.Asp216Asn	rs1222363566	missense variant	-	NC_000012.12:g.85286967G>A	TOPMed
ALX1	Q15699	p.Asp216Glu	rs998096551	missense variant	-	NC_000012.12:g.85286969C>A	TOPMed
ALX1	Q15699	p.Asp216Glu	rs998096551	missense variant	-	NC_000012.12:g.85286969C>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Ser217Cys	rs1450877264	missense variant	-	NC_000012.12:g.85286970A>T	gnomAD
ALX1	Q15699	p.Pro219Ser	COSM4396258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85286976C>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Pro219Gln	rs765874556	missense variant	-	NC_000012.12:g.85286977C>A	ExAC,gnomAD
ALX1	Q15699	p.Pro219Ala	rs1280316639	missense variant	-	NC_000012.12:g.85286976C>G	TOPMed
ALX1	Q15699	p.Ile221Val	rs79870572	missense variant	-	NC_000012.12:g.85301155A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Gln222Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301159A>T	NCI-TCGA
ALX1	Q15699	p.Asn223Lys	rs758427563	missense variant	-	NC_000012.12:g.85301163C>A	ExAC,gnomAD
ALX1	Q15699	p.Trp226Arg	rs780138938	missense variant	-	NC_000012.12:g.85301170T>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Trp226Leu	COSM695580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301171G>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Trp226Gly	rs780138938	missense variant	-	NC_000012.12:g.85301170T>G	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ala227Thr	rs375150228	missense variant	-	NC_000012.12:g.85301173G>A	NCI-TCGA,NCI-TCGA Cosmic
ALX1	Q15699	p.Ala227Thr	rs375150228	missense variant	-	NC_000012.12:g.85301173G>A	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ala227Val	rs1335299005	missense variant	-	NC_000012.12:g.85301174C>T	gnomAD
ALX1	Q15699	p.Gly228Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.85301176G>T	NCI-TCGA
ALX1	Q15699	p.Asn229Tyr	rs1218240167	missense variant	-	NC_000012.12:g.85301179A>T	gnomAD
ALX1	Q15699	p.Ala230Gly	rs768807912	missense variant	-	NC_000012.12:g.85301183C>G	ExAC,gnomAD
ALX1	Q15699	p.Gly232Cys	rs960499054	missense variant	-	NC_000012.12:g.85301188G>T	gnomAD
ALX1	Q15699	p.Gly232Ser	rs960499054	missense variant	-	NC_000012.12:g.85301188G>A	gnomAD
ALX1	Q15699	p.Gly233Cys	rs773047636	missense variant	-	NC_000012.12:g.85301191G>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Gly233Ser	rs773047636	missense variant	-	NC_000012.12:g.85301191G>A	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Gly233Val	rs1006830040	missense variant	-	NC_000012.12:g.85301192G>T	TOPMed
ALX1	Q15699	p.Ser234Cys	rs770893179	missense variant	-	NC_000012.12:g.85301195C>G	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Val235Leu	rs1190445275	missense variant	-	NC_000012.12:g.85301197G>C	gnomAD
ALX1	Q15699	p.Thr237Ser	rs368441255	missense variant	-	NC_000012.12:g.85301203A>T	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Thr237Ala	rs368441255	missense variant	-	NC_000012.12:g.85301203A>G	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Thr237Asn	COSM1299926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301204C>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Ser238Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301207C>T	NCI-TCGA
ALX1	Q15699	p.Ser238Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301206T>C	NCI-TCGA
ALX1	Q15699	p.Met240Val	rs1169478510	missense variant	-	NC_000012.12:g.85301212A>G	gnomAD
ALX1	Q15699	p.Met240Thr	rs574106917	missense variant	-	NC_000012.12:g.85301213T>C	1000Genomes,ExAC,gnomAD
ALX1	Q15699	p.Met240Lys	rs574106917	missense variant	-	NC_000012.12:g.85301213T>A	1000Genomes,ExAC,gnomAD
ALX1	Q15699	p.Pro242Arg	rs763828906	missense variant	-	NC_000012.12:g.85301219C>G	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg243Cys	rs1167995672	missense variant	-	NC_000012.12:g.85301221C>T	TOPMed,gnomAD
ALX1	Q15699	p.Arg243His	rs116431888	missense variant	-	NC_000012.12:g.85301222G>A	1000Genomes,ExAC,TOPMed
ALX1	Q15699	p.Asp244Gly	rs1401337036	missense variant	-	NC_000012.12:g.85301225A>G	gnomAD
ALX1	Q15699	p.Thr245Ile	rs1314737998	missense variant	-	NC_000012.12:g.85301228C>T	gnomAD
ALX1	Q15699	p.Thr245Ala	rs757672381	missense variant	-	NC_000012.12:g.85301227A>G	ExAC,gnomAD
ALX1	Q15699	p.Ser246Ala	rs1160935853	missense variant	-	NC_000012.12:g.85301230T>G	TOPMed
ALX1	Q15699	p.Ser246Tyr	rs1421829327	missense variant	-	NC_000012.12:g.85301231C>A	TOPMed
ALX1	Q15699	p.Cys248Tyr	rs765645567	missense variant	-	NC_000012.12:g.85301237G>A	NCI-TCGA
ALX1	Q15699	p.Cys248Tyr	rs765645567	missense variant	-	NC_000012.12:g.85301237G>A	ExAC,gnomAD
ALX1	Q15699	p.Met249Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301241G>A	NCI-TCGA
ALX1	Q15699	p.Thr250Ala	rs1309522063	missense variant	-	NC_000012.12:g.85301242A>G	gnomAD
ALX1	Q15699	p.Ser253Pro	rs1255505998	missense variant	-	NC_000012.12:g.85301251T>C	gnomAD
ALX1	Q15699	p.Ser255Leu	rs758870090	missense variant	-	NC_000012.12:g.85301258C>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Pro256Leu	rs748246704	missense variant	-	NC_000012.12:g.85301261C>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Arg257Gly	COSM695579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301263C>G	NCI-TCGA Cosmic
ALX1	Q15699	p.Arg257Trp	rs921513196	missense variant	-	NC_000012.12:g.85301263C>T	TOPMed,gnomAD
ALX1	Q15699	p.Arg257Pro	rs755258550	missense variant	-	NC_000012.12:g.85301264G>C	ExAC,gnomAD
ALX1	Q15699	p.Arg257Gln	rs755258550	missense variant	-	NC_000012.12:g.85301264G>A	ExAC,gnomAD
ALX1	Q15699	p.Arg257Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301264G>T	NCI-TCGA
ALX1	Q15699	p.Thr258Arg	rs781359296	missense variant	-	NC_000012.12:g.85301267C>G	ExAC
ALX1	Q15699	p.Asp259His	rs1259147934	missense variant	-	NC_000012.12:g.85301269G>C	gnomAD
ALX1	Q15699	p.Asp259His	rs1259147934	missense variant	-	NC_000012.12:g.85301269G>C	NCI-TCGA Cosmic
ALX1	Q15699	p.Ser261Arg	rs1488215377	missense variant	-	NC_000012.12:g.85301277T>G	TOPMed
ALX1	Q15699	p.Ser261Thr	rs371574280	missense variant	-	NC_000012.12:g.85301276G>C	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ser261Asn	rs371574280	missense variant	-	NC_000012.12:g.85301276G>A	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Ser261Gly	rs749132227	missense variant	-	NC_000012.12:g.85301275A>G	ExAC
ALX1	Q15699	p.Thr263Ser	rs1193523802	missense variant	-	NC_000012.12:g.85301281A>T	gnomAD
ALX1	Q15699	p.Gly264Glu	rs1432369243	missense variant	-	NC_000012.12:g.85301285G>A	gnomAD
ALX1	Q15699	p.Gly264Glu	rs1432369243	missense variant	-	NC_000012.12:g.85301285G>A	NCI-TCGA
ALX1	Q15699	p.Asn267Ser	rs1218457637	missense variant	-	NC_000012.12:g.85301294A>G	TOPMed
ALX1	Q15699	p.Gln269His	rs771991970	missense variant	-	NC_000012.12:g.85301301G>C	ExAC,gnomAD
ALX1	Q15699	p.Gln271His	rs1289487472	missense variant	-	NC_000012.12:g.85301307G>C	TOPMed
ALX1	Q15699	p.Ser273Asn	rs533643665	missense variant	-	NC_000012.12:g.85301312G>A	1000Genomes,ExAC,gnomAD
ALX1	Q15699	p.Val275Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301317G>A	NCI-TCGA
ALX1	Q15699	p.Leu277Phe	rs912526043	missense variant	-	NC_000012.12:g.85301323C>T	gnomAD
ALX1	Q15699	p.Leu277Phe	rs912526043	missense variant	-	NC_000012.12:g.85301323C>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Phe280Cys	rs1357470582	missense variant	-	NC_000012.12:g.85301333T>G	TOPMed
ALX1	Q15699	p.Phe280Ile	rs1234091583	missense variant	-	NC_000012.12:g.85301332T>A	TOPMed
ALX1	Q15699	p.Asp283Tyr	COSM6138367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301341G>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Asp283Glu	rs1276321691	missense variant	-	NC_000012.12:g.85301343C>G	TOPMed
ALX1	Q15699	p.Ser284Phe	rs763882178	missense variant	-	NC_000012.12:g.85301345C>T	ExAC,gnomAD
ALX1	Q15699	p.Ser284Cys	rs763882178	missense variant	-	NC_000012.12:g.85301345C>G	ExAC,gnomAD
ALX1	Q15699	p.Ser284Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301344T>A	NCI-TCGA
ALX1	Q15699	p.Leu285Pro	rs1231472422	missense variant	-	NC_000012.12:g.85301348T>C	gnomAD
ALX1	Q15699	p.Leu285Phe	rs147059932	missense variant	-	NC_000012.12:g.85301347C>T	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Leu285Ile	rs147059932	missense variant	-	NC_000012.12:g.85301347C>A	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Leu286Arg	rs1262848764	missense variant	-	NC_000012.12:g.85301351T>G	TOPMed,gnomAD
ALX1	Q15699	p.Leu286Pro	rs1262848764	missense variant	-	NC_000012.12:g.85301351T>C	TOPMed,gnomAD
ALX1	Q15699	p.Thr287Ala	rs1290543673	missense variant	-	NC_000012.12:g.85301353A>G	TOPMed
ALX1	Q15699	p.Thr287Ile	COSM1299927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301354C>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Gly288Val	rs531910111	missense variant	-	NC_000012.12:g.85301357G>T	gnomAD
ALX1	Q15699	p.Ala289Thr	COSM4045208	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301359G>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Ala289Ser	rs761513959	missense variant	-	NC_000012.12:g.85301359G>T	ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Thr290Asn	rs765521334	missense variant	-	NC_000012.12:g.85301363C>A	ExAC,gnomAD
ALX1	Q15699	p.Thr290Ile	rs765521334	missense variant	-	NC_000012.12:g.85301363C>T	ExAC,gnomAD
ALX1	Q15699	p.Thr290Ser	rs1266288097	missense variant	-	NC_000012.12:g.85301362A>T	gnomAD
ALX1	Q15699	p.Asn291Ser	rs988844987	missense variant	-	NC_000012.12:g.85301366A>G	TOPMed
ALX1	Q15699	p.Gly292Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301368G>A	NCI-TCGA
ALX1	Q15699	p.His293Pro	rs1395545389	missense variant	-	NC_000012.12:g.85301372A>C	gnomAD
ALX1	Q15699	p.Ala294Gly	rs766904677	missense variant	-	NC_000012.12:g.85301375C>G	ExAC,gnomAD
ALX1	Q15699	p.Pro299Thr	rs1156912114	missense variant	-	NC_000012.12:g.85301389C>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Pro299Thr	rs1156912114	missense variant	-	NC_000012.12:g.85301389C>A	gnomAD
ALX1	Q15699	p.Pro299Gln	rs1346744337	missense variant	-	NC_000012.12:g.85301390C>A	TOPMed,gnomAD
ALX1	Q15699	p.Pro299Leu	rs1346744337	missense variant	-	NC_000012.12:g.85301390C>T	TOPMed,gnomAD
ALX1	Q15699	p.Glu300Gln	rs751630239	missense variant	-	NC_000012.12:g.85301392G>C	ExAC,gnomAD
ALX1	Q15699	p.Phe301Ser	rs1392583898	missense variant	-	NC_000012.12:g.85301396T>C	gnomAD
ALX1	Q15699	p.Phe301Val	rs1293138353	missense variant	-	NC_000012.12:g.85301395T>G	gnomAD
ALX1	Q15699	p.Glu302Gln	rs1443144887	missense variant	-	NC_000012.12:g.85301398G>C	TOPMed,gnomAD
ALX1	Q15699	p.Glu302Gln	rs1443144887	missense variant	-	NC_000012.12:g.85301398G>C	NCI-TCGA Cosmic
ALX1	Q15699	p.Ile308Val	rs755027408	missense variant	-	NC_000012.12:g.85301416A>G	ExAC,gnomAD
ALX1	Q15699	p.Ala309Ser	rs201582242	missense variant	-	NC_000012.12:g.85301419G>T	TOPMed
ALX1	Q15699	p.Ala309Thr	rs201582242	missense variant	-	NC_000012.12:g.85301419G>A	TOPMed
ALX1	Q15699	p.Arg312Ter	COSM1182652	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.85301428C>T	NCI-TCGA Cosmic
ALX1	Q15699	p.Arg312Gln	COSM695578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301429G>A	NCI-TCGA Cosmic
ALX1	Q15699	p.Lys314Arg	COSM944120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.85301435A>G	NCI-TCGA Cosmic
ALX1	Q15699	p.Ala315Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301437G>A	NCI-TCGA
ALX1	Q15699	p.Glu317Gln	rs756262205	missense variant	-	NC_000012.12:g.85301443G>C	ExAC,gnomAD
ALX1	Q15699	p.His318Arg	rs79265723	missense variant	-	NC_000012.12:g.85301447A>G	NCI-TCGA
ALX1	Q15699	p.His318Arg	rs79265723	missense variant	-	NC_000012.12:g.85301447A>G	TOPMed
ALX1	Q15699	p.His318Pro	rs79265723	missense variant	-	NC_000012.12:g.85301447A>C	TOPMed
ALX1	Q15699	p.Ala320Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301453C>T	NCI-TCGA
ALX1	Q15699	p.Ala320Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301452G>A	NCI-TCGA
ALX1	Q15699	p.Asn321Ser	rs1246442071	missense variant	-	NC_000012.12:g.85301456A>G	TOPMed
ALX1	Q15699	p.Ser323Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.85301462C>T	NCI-TCGA
ALX1	Q15699	p.Ala325Pro	rs371842650	missense variant	-	NC_000012.12:g.85301467G>C	ESP,ExAC,TOPMed,gnomAD
ALX1	Q15699	p.Met326Val	rs138244335	missense variant	-	NC_000012.12:g.85301470A>G	ESP,ExAC,gnomAD
ALX1	Q15699	p.Met326Ile	rs373533707	missense variant	-	NC_000012.12:g.85301472G>A	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Glu6Gly	rs767314853	missense variant	-	NC_000019.10:g.7991799T>C	ExAC,gnomAD
ELAVL1	Q15717	p.His8Leu	rs754511831	missense variant	-	NC_000019.10:g.7991793T>A	ExAC,gnomAD
ELAVL1	Q15717	p.His8Arg	rs754511831	missense variant	-	NC_000019.10:g.7991793T>C	ExAC,gnomAD
ELAVL1	Q15717	p.Met9Val	rs751134984	missense variant	-	NC_000019.10:g.7991791T>C	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Glu11Lys	rs368659692	missense variant	-	NC_000019.10:g.7991785C>T	ESP,ExAC,gnomAD
ELAVL1	Q15717	p.Glu11Ter	rs368659692	stop gained	-	NC_000019.10:g.7991785C>A	ESP,ExAC,gnomAD
ELAVL1	Q15717	p.Cys13Arg	rs1419502367	missense variant	-	NC_000019.10:g.7991779A>G	TOPMed
ELAVL1	Q15717	p.Arg14Lys	rs773607076	missense variant	-	NC_000019.10:g.7991775C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Gly15Ser	rs765588626	missense variant	-	NC_000019.10:g.7991773C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Asp16Tyr	rs183919265	missense variant	-	NC_000019.10:g.7991770C>A	1000Genomes
ELAVL1	Q15717	p.Ile17Val	rs762197301	missense variant	-	NC_000019.10:g.7991767T>C	ExAC,gnomAD
ELAVL1	Q15717	p.Ile17Met	rs370966971	missense variant	-	NC_000019.10:g.7991765G>C	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Gly18Arg	rs941493606	missense variant	-	NC_000019.10:g.7991764C>T	TOPMed,gnomAD
ELAVL1	Q15717	p.Val24Ile	rs1298720420	missense variant	-	NC_000019.10:g.7991746C>T	TOPMed
ELAVL1	Q15717	p.Ser38Arg	rs749196794	missense variant	-	NC_000019.10:g.7991704T>G	ExAC,gnomAD
ELAVL1	Q15717	p.Ser42Asn	rs1294906748	missense variant	-	NC_000019.10:g.7991691C>T	TOPMed
ELAVL1	Q15717	p.Ser42Gly	rs1047630892	missense variant	-	NC_000019.10:g.7991692T>C	TOPMed
ELAVL1	Q15717	p.Ala49Ser	rs755938476	missense variant	-	NC_000019.10:g.7991671C>A	ExAC,gnomAD
ELAVL1	Q15717	p.Ile52Val	rs1356330378	missense variant	-	NC_000019.10:g.7991662T>C	TOPMed
ELAVL1	Q15717	p.Arg53Trp	rs748009879	missense variant	-	NC_000019.10:g.7991659G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Val69Met	rs757894457	missense variant	-	NC_000019.10:g.7981154C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Thr70Ser	rs749959468	missense variant	-	NC_000019.10:g.7981150G>C	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Thr70Ile	rs749959468	missense variant	-	NC_000019.10:g.7981150G>A	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala71Thr	rs1002242021	missense variant	-	NC_000019.10:g.7981148C>T	TOPMed,gnomAD
ELAVL1	Q15717	p.Ala71Val	rs757692680	missense variant	-	NC_000019.10:g.7981147G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Lys72Arg	rs1194079610	missense variant	-	NC_000019.10:g.7981144T>C	gnomAD
ELAVL1	Q15717	p.Glu75Gly	rs1265243454	missense variant	-	NC_000019.10:g.7981135T>C	gnomAD
ELAVL1	Q15717	p.Ala77Ser	rs936268706	missense variant	-	NC_000019.10:g.7981130C>A	TOPMed
ELAVL1	Q15717	p.Thr80Met	rs752929356	missense variant	-	NC_000019.10:g.7981120G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Ala106Thr	rs1282019819	missense variant	-	NC_000019.10:g.7973839C>T	gnomAD
ELAVL1	Q15717	p.Arg115Gln	rs748842783	missense variant	-	NC_000019.10:g.7973811C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Val122Ile	rs1353862599	missense variant	-	NC_000019.10:g.7973791C>T	TOPMed,gnomAD
ELAVL1	Q15717	p.Met125Leu	rs756651324	missense variant	-	NC_000019.10:g.7973782T>A	ExAC,gnomAD
ELAVL1	Q15717	p.Arg128Gly	rs1392143313	missense variant	-	NC_000019.10:g.7973773G>C	TOPMed
ELAVL1	Q15717	p.Arg128Gln	rs140179606	missense variant	-	NC_000019.10:g.7973772C>T	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Arg131Trp	rs1156860701	missense variant	-	NC_000019.10:g.7973764G>A	TOPMed,gnomAD
ELAVL1	Q15717	p.Arg131Gln	rs201280427	missense variant	-	NC_000019.10:g.7973763C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ser135Leu	rs1160077839	missense variant	-	NC_000019.10:g.7973751G>A	TOPMed,gnomAD
ELAVL1	Q15717	p.Val139Met	rs759364043	missense variant	-	NC_000019.10:g.7973740C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Thr142Ser	rs1481181693	missense variant	-	NC_000019.10:g.7973730G>C	TOPMed
ELAVL1	Q15717	p.Ile152Val	rs1462127678	missense variant	-	NC_000019.10:g.7967767T>C	gnomAD
ELAVL1	Q15717	p.Ser158Leu	rs761216666	missense variant	-	NC_000019.10:g.7967748G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Asn168Ser	rs768294547	missense variant	-	NC_000019.10:g.7967718T>C	ExAC
ELAVL1	Q15717	p.Pro172Thr	rs1418897226	missense variant	-	NC_000019.10:g.7967707G>T	gnomAD
ELAVL1	Q15717	p.Pro173Ser	rs376219740	missense variant	-	NC_000019.10:g.7967704G>A	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Glu177Asp	rs1481044004	missense variant	-	NC_000019.10:g.7967690C>A	gnomAD
ELAVL1	Q15717	p.Pro187His	rs1350103997	missense variant	-	NC_000019.10:g.7967661G>T	gnomAD
ELAVL1	Q15717	p.Val193Met	rs746289699	missense variant	-	NC_000019.10:g.7967644C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Ala204Val	rs370407808	missense variant	-	NC_000019.10:g.7967610G>A	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala204Ser	rs756212952	missense variant	-	NC_000019.10:g.7967611C>A	ExAC,gnomAD
ELAVL1	Q15717	p.Arg205Gln	rs1284436080	missense variant	-	NC_000019.10:g.7967607C>T	TOPMed
ELAVL1	Q15717	p.Phe207Leu	rs377051094	missense variant	-	NC_000019.10:g.7967600G>C	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Val211Ile	rs750293457	missense variant	-	NC_000019.10:g.7967590C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala215Pro	rs138823708	missense variant	-	NC_000019.10:g.7967578C>G	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala215Val	rs756868982	missense variant	-	NC_000019.10:g.7967577G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Val225Ile	rs763270784	missense variant	-	NC_000019.10:g.7963791C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.His227Pro	rs1463328008	missense variant	-	NC_000019.10:g.7963784T>G	gnomAD
ELAVL1	Q15717	p.Met228Leu	rs1233395072	missense variant	-	NC_000019.10:g.7963782T>A	TOPMed
ELAVL1	Q15717	p.Ser232Ala	rs1179916551	missense variant	-	NC_000019.10:g.7963770A>C	TOPMed
ELAVL1	Q15717	p.Val234Ile	rs776625986	missense variant	-	NC_000019.10:g.7963764C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Asn235Ser	rs768632820	missense variant	-	NC_000019.10:g.7963760T>C	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Val236Gly	rs1215396504	missense variant	-	NC_000019.10:g.7963757A>C	gnomAD
ELAVL1	Q15717	p.Pro237Ala	rs1468733287	missense variant	-	NC_000019.10:g.7963755G>C	gnomAD
ELAVL1	Q15717	p.Asn239Ser	rs1329545368	missense variant	-	NC_000019.10:g.7963748T>C	TOPMed
ELAVL1	Q15717	p.Ala240Thr	rs770736507	missense variant	-	NC_000019.10:g.7963746C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ser241Ala	rs1232923071	missense variant	-	NC_000019.10:g.7963743A>C	gnomAD
ELAVL1	Q15717	p.Cys245Gly	rs752407235	missense variant	-	NC_000019.10:g.7963731A>C	ExAC,gnomAD
ELAVL1	Q15717	p.Asp254Ala	rs1398738001	missense variant	-	NC_000019.10:g.7963703T>G	gnomAD
ELAVL1	Q15717	p.Ala255Val	rs754481468	missense variant	-	NC_000019.10:g.7963700G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Asp256Asn	rs148254612	missense variant	-	NC_000019.10:g.7963698C>T	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Asn280Thr	rs1186504207	missense variant	-	NC_000019.10:g.7963625T>G	TOPMed
ELAVL1	Q15717	p.Thr281Ile	rs774331648	missense variant	-	NC_000019.10:g.7963622G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Gly286Glu	rs770836572	missense variant	-	NC_000019.10:g.7963607C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Glu297Asp	rs769730671	missense variant	-	NC_000019.10:g.7963573T>G	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala299Thr	rs894992560	missense variant	-	NC_000019.10:g.7963569C>T	gnomAD
ELAVL1	Q15717	p.Ala299Ser	rs894992560	missense variant	-	NC_000019.10:g.7963569C>A	gnomAD
ELAVL1	Q15717	p.Ala303Gly	rs1376533736	missense variant	-	NC_000019.10:g.7963556G>C	TOPMed
ELAVL1	Q15717	p.Tyr308Cys	rs1417780516	missense variant	-	NC_000019.10:g.7963541T>C	gnomAD
ELAVL1	Q15717	p.Arg309Cys	rs780607258	missense variant	-	NC_000019.10:g.7963539G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Arg309His	rs1414902866	missense variant	-	NC_000019.10:g.7963538C>T	gnomAD
ELAVL1	Q15717	p.Arg309Leu	rs1414902866	missense variant	-	NC_000019.10:g.7963538C>A	gnomAD
ELAVL1	Q15717	p.Asn322Ser	rs1471027091	missense variant	-	NC_000019.10:g.7963499T>C	gnomAD
ELAVL1	Q15717	p.Asn322Lys	rs1193306049	missense variant	-	NC_000019.10:g.7963498G>C	gnomAD
ELAVL1	Q15717	p.Glu6Gly	rs767314853	missense variant	-	NC_000019.10:g.7991799T>C	ExAC,gnomAD
ELAVL1	Q15717	p.His8Leu	rs754511831	missense variant	-	NC_000019.10:g.7991793T>A	ExAC,gnomAD
ELAVL1	Q15717	p.His8Arg	rs754511831	missense variant	-	NC_000019.10:g.7991793T>C	ExAC,gnomAD
ELAVL1	Q15717	p.Met9Val	rs751134984	missense variant	-	NC_000019.10:g.7991791T>C	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Glu11Lys	rs368659692	missense variant	-	NC_000019.10:g.7991785C>T	ESP,ExAC,gnomAD
ELAVL1	Q15717	p.Glu11Ter	rs368659692	stop gained	-	NC_000019.10:g.7991785C>A	ESP,ExAC,gnomAD
ELAVL1	Q15717	p.Cys13Arg	rs1419502367	missense variant	-	NC_000019.10:g.7991779A>G	TOPMed
ELAVL1	Q15717	p.Arg14Lys	rs773607076	missense variant	-	NC_000019.10:g.7991775C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Gly15Ser	rs765588626	missense variant	-	NC_000019.10:g.7991773C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Asp16Tyr	rs183919265	missense variant	-	NC_000019.10:g.7991770C>A	1000Genomes
ELAVL1	Q15717	p.Ile17Met	rs370966971	missense variant	-	NC_000019.10:g.7991765G>C	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ile17Val	rs762197301	missense variant	-	NC_000019.10:g.7991767T>C	ExAC,gnomAD
ELAVL1	Q15717	p.Gly18Arg	rs941493606	missense variant	-	NC_000019.10:g.7991764C>T	TOPMed,gnomAD
ELAVL1	Q15717	p.Val24Ile	rs1298720420	missense variant	-	NC_000019.10:g.7991746C>T	TOPMed
ELAVL1	Q15717	p.Ser38Arg	rs749196794	missense variant	-	NC_000019.10:g.7991704T>G	ExAC,gnomAD
ELAVL1	Q15717	p.Ser42Asn	rs1294906748	missense variant	-	NC_000019.10:g.7991691C>T	TOPMed
ELAVL1	Q15717	p.Ser42Gly	rs1047630892	missense variant	-	NC_000019.10:g.7991692T>C	TOPMed
ELAVL1	Q15717	p.Ala49Ser	rs755938476	missense variant	-	NC_000019.10:g.7991671C>A	ExAC,gnomAD
ELAVL1	Q15717	p.Ile52Val	rs1356330378	missense variant	-	NC_000019.10:g.7991662T>C	TOPMed
ELAVL1	Q15717	p.Arg53Trp	rs748009879	missense variant	-	NC_000019.10:g.7991659G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Val69Met	rs757894457	missense variant	-	NC_000019.10:g.7981154C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Thr70Ser	rs749959468	missense variant	-	NC_000019.10:g.7981150G>C	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Thr70Ile	rs749959468	missense variant	-	NC_000019.10:g.7981150G>A	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala71Val	rs757692680	missense variant	-	NC_000019.10:g.7981147G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Ala71Thr	rs1002242021	missense variant	-	NC_000019.10:g.7981148C>T	TOPMed,gnomAD
ELAVL1	Q15717	p.Lys72Arg	rs1194079610	missense variant	-	NC_000019.10:g.7981144T>C	gnomAD
ELAVL1	Q15717	p.Glu75Gly	rs1265243454	missense variant	-	NC_000019.10:g.7981135T>C	gnomAD
ELAVL1	Q15717	p.Ala77Ser	rs936268706	missense variant	-	NC_000019.10:g.7981130C>A	TOPMed
ELAVL1	Q15717	p.Thr80Met	rs752929356	missense variant	-	NC_000019.10:g.7981120G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Ala106Thr	rs1282019819	missense variant	-	NC_000019.10:g.7973839C>T	gnomAD
ELAVL1	Q15717	p.Arg115Gln	rs748842783	missense variant	-	NC_000019.10:g.7973811C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Val122Ile	rs1353862599	missense variant	-	NC_000019.10:g.7973791C>T	TOPMed,gnomAD
ELAVL1	Q15717	p.Met125Leu	rs756651324	missense variant	-	NC_000019.10:g.7973782T>A	ExAC,gnomAD
ELAVL1	Q15717	p.Arg128Gln	rs140179606	missense variant	-	NC_000019.10:g.7973772C>T	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Arg128Gly	rs1392143313	missense variant	-	NC_000019.10:g.7973773G>C	TOPMed
ELAVL1	Q15717	p.Arg131Gln	rs201280427	missense variant	-	NC_000019.10:g.7973763C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Arg131Trp	rs1156860701	missense variant	-	NC_000019.10:g.7973764G>A	TOPMed,gnomAD
ELAVL1	Q15717	p.Ser135Leu	rs1160077839	missense variant	-	NC_000019.10:g.7973751G>A	TOPMed,gnomAD
ELAVL1	Q15717	p.Val139Met	rs759364043	missense variant	-	NC_000019.10:g.7973740C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Thr142Ser	rs1481181693	missense variant	-	NC_000019.10:g.7973730G>C	TOPMed
ELAVL1	Q15717	p.Ile152Val	rs1462127678	missense variant	-	NC_000019.10:g.7967767T>C	gnomAD
ELAVL1	Q15717	p.Ser158Leu	rs761216666	missense variant	-	NC_000019.10:g.7967748G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Asn168Ser	rs768294547	missense variant	-	NC_000019.10:g.7967718T>C	ExAC
ELAVL1	Q15717	p.Pro172Thr	rs1418897226	missense variant	-	NC_000019.10:g.7967707G>T	gnomAD
ELAVL1	Q15717	p.Pro173Ser	rs376219740	missense variant	-	NC_000019.10:g.7967704G>A	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Glu177Asp	rs1481044004	missense variant	-	NC_000019.10:g.7967690C>A	gnomAD
ELAVL1	Q15717	p.Pro187His	rs1350103997	missense variant	-	NC_000019.10:g.7967661G>T	gnomAD
ELAVL1	Q15717	p.Val193Met	rs746289699	missense variant	-	NC_000019.10:g.7967644C>T	ExAC,gnomAD
ELAVL1	Q15717	p.Ala204Val	rs370407808	missense variant	-	NC_000019.10:g.7967610G>A	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala204Ser	rs756212952	missense variant	-	NC_000019.10:g.7967611C>A	ExAC,gnomAD
ELAVL1	Q15717	p.Arg205Gln	rs1284436080	missense variant	-	NC_000019.10:g.7967607C>T	TOPMed
ELAVL1	Q15717	p.Phe207Leu	rs377051094	missense variant	-	NC_000019.10:g.7967600G>C	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Val211Ile	rs750293457	missense variant	-	NC_000019.10:g.7967590C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala215Pro	rs138823708	missense variant	-	NC_000019.10:g.7967578C>G	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala215Val	rs756868982	missense variant	-	NC_000019.10:g.7967577G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Val225Ile	rs763270784	missense variant	-	NC_000019.10:g.7963791C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.His227Pro	rs1463328008	missense variant	-	NC_000019.10:g.7963784T>G	gnomAD
ELAVL1	Q15717	p.Met228Leu	rs1233395072	missense variant	-	NC_000019.10:g.7963782T>A	TOPMed
ELAVL1	Q15717	p.Ser232Ala	rs1179916551	missense variant	-	NC_000019.10:g.7963770A>C	TOPMed
ELAVL1	Q15717	p.Val234Ile	rs776625986	missense variant	-	NC_000019.10:g.7963764C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Asn235Ser	rs768632820	missense variant	-	NC_000019.10:g.7963760T>C	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Val236Gly	rs1215396504	missense variant	-	NC_000019.10:g.7963757A>C	gnomAD
ELAVL1	Q15717	p.Pro237Ala	rs1468733287	missense variant	-	NC_000019.10:g.7963755G>C	gnomAD
ELAVL1	Q15717	p.Asn239Ser	rs1329545368	missense variant	-	NC_000019.10:g.7963748T>C	TOPMed
ELAVL1	Q15717	p.Ala240Thr	rs770736507	missense variant	-	NC_000019.10:g.7963746C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ser241Ala	rs1232923071	missense variant	-	NC_000019.10:g.7963743A>C	gnomAD
ELAVL1	Q15717	p.Cys245Gly	rs752407235	missense variant	-	NC_000019.10:g.7963731A>C	ExAC,gnomAD
ELAVL1	Q15717	p.Asp254Ala	rs1398738001	missense variant	-	NC_000019.10:g.7963703T>G	gnomAD
ELAVL1	Q15717	p.Ala255Val	rs754481468	missense variant	-	NC_000019.10:g.7963700G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Asp256Asn	rs148254612	missense variant	-	NC_000019.10:g.7963698C>T	ESP,ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Asn280Thr	rs1186504207	missense variant	-	NC_000019.10:g.7963625T>G	TOPMed
ELAVL1	Q15717	p.Thr281Ile	rs774331648	missense variant	-	NC_000019.10:g.7963622G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Gly286Glu	rs770836572	missense variant	-	NC_000019.10:g.7963607C>T	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Glu297Asp	rs769730671	missense variant	-	NC_000019.10:g.7963573T>G	ExAC,TOPMed,gnomAD
ELAVL1	Q15717	p.Ala299Thr	rs894992560	missense variant	-	NC_000019.10:g.7963569C>T	gnomAD
ELAVL1	Q15717	p.Ala299Ser	rs894992560	missense variant	-	NC_000019.10:g.7963569C>A	gnomAD
ELAVL1	Q15717	p.Ala303Gly	rs1376533736	missense variant	-	NC_000019.10:g.7963556G>C	TOPMed
ELAVL1	Q15717	p.Tyr308Cys	rs1417780516	missense variant	-	NC_000019.10:g.7963541T>C	gnomAD
ELAVL1	Q15717	p.Arg309Leu	rs1414902866	missense variant	-	NC_000019.10:g.7963538C>A	gnomAD
ELAVL1	Q15717	p.Arg309Cys	rs780607258	missense variant	-	NC_000019.10:g.7963539G>A	ExAC,gnomAD
ELAVL1	Q15717	p.Arg309His	rs1414902866	missense variant	-	NC_000019.10:g.7963538C>T	gnomAD
ELAVL1	Q15717	p.Asn322Ser	rs1471027091	missense variant	-	NC_000019.10:g.7963499T>C	gnomAD
ELAVL1	Q15717	p.Asn322Lys	rs1193306049	missense variant	-	NC_000019.10:g.7963498G>C	gnomAD
SMAD2	Q15796	p.Thr8Met	rs1341462958	missense variant	-	NC_000018.10:g.47896734G>A	gnomAD
SMAD2	Q15796	p.Pro9Leu	rs749758342	missense variant	-	NC_000018.10:g.47896731G>A	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Leu16Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47896711G>C	NCI-TCGA
SMAD2	Q15796	p.Trp18Ter	RCV000578545	nonsense	-	NC_000018.10:g.47896704C>T	ClinVar
SMAD2	Q15796	p.Trp18Ter	rs1555658568	stop gained	-	NC_000018.10:g.47896704C>T	-
SMAD2	Q15796	p.Gly24Arg	rs747301606	missense variant	-	NC_000018.10:g.47896687C>G	ExAC
SMAD2	Q15796	p.Ser25Cys	rs143058641	missense variant	-	NC_000018.10:g.47896683G>C	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Gly27Glu	rs1186363719	missense variant	-	NC_000018.10:g.47896677C>T	gnomAD
SMAD2	Q15796	p.Gly30Val	rs1239673820	missense variant	-	NC_000018.10:g.47896668C>A	TOPMed
SMAD2	Q15796	p.Asn34Ile	rs1239631809	missense variant	-	NC_000018.10:g.47896656T>A	gnomAD
SMAD2	Q15796	p.Lys39Arg	rs1178643701	missense variant	-	NC_000018.10:g.47896641T>C	gnomAD
SMAD2	Q15796	p.Glu42TyrAsnArgMetGlnValSerTer	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47896631_47896632insTAACTTACTTGCATCCTGTTATAT	NCI-TCGA
SMAD2	Q15796	p.Ala44Thr	rs1456954386	missense variant	-	NC_000018.10:g.47896627C>T	gnomAD
SMAD2	Q15796	p.Lys53Asn	COSM3821518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47896598C>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Lys54Ile	rs1445838443	missense variant	-	NC_000018.10:g.47896596T>A	gnomAD
SMAD2	Q15796	p.Thr55Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47896594T>C	NCI-TCGA
SMAD2	Q15796	p.Arg57Gln	COSM4869360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47896587C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Leu58Ter	RCV000494088	nonsense	-	NC_000018.10:g.47896584A>T	ClinVar
SMAD2	Q15796	p.Leu58Ter	rs1131691755	stop gained	-	NC_000018.10:g.47896584A>T	-
SMAD2	Q15796	p.Asp59Glu	rs375368905	missense variant	-	NC_000018.10:g.47896580A>T	ESP,ExAC,gnomAD
SMAD2	Q15796	p.Lys63Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47896570T>G	NCI-TCGA
SMAD2	Q15796	p.Ala64Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47896566G>A	NCI-TCGA
SMAD2	Q15796	p.Ile65Val	rs1242869146	missense variant	-	NC_000018.10:g.47896564T>C	gnomAD
SMAD2	Q15796	p.Thr72Ala	COSM3970568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47896543T>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Thr76Ala	rs1374795369	missense variant	-	NC_000018.10:g.47896531T>C	gnomAD
SMAD2	Q15796	p.Ile77Lys	rs1326742866	missense variant	-	NC_000018.10:g.47896527A>T	gnomAD
SMAD2	Q15796	p.Pro78Gln	rs761359766	missense variant	-	NC_000018.10:g.47896524G>T	ExAC,gnomAD
SMAD2	Q15796	p.Cys81Phe	rs908853616	missense variant	-	NC_000018.10:g.47870559C>A	TOPMed,gnomAD
SMAD2	Q15796	p.Ser82Cys	COSM4480835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47870556G>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Ile84Phe	rs1418778323	missense variant	-	NC_000018.10:g.47870551T>A	gnomAD
SMAD2	Q15796	p.Leu87Pro	rs779006352	missense variant	-	NC_000018.10:g.47870541A>G	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ser88Asn	rs1173764083	missense variant	-	NC_000018.10:g.47870538C>T	gnomAD
SMAD2	Q15796	p.Pro90Ser	rs756023240	missense variant	-	NC_000018.10:g.47870533G>A	ExAC,gnomAD
SMAD2	Q15796	p.Pro90Thr	rs756023240	missense variant	-	NC_000018.10:g.47870533G>T	ExAC,gnomAD
SMAD2	Q15796	p.Asn91Asp	rs750419429	missense variant	-	NC_000018.10:g.47870530T>C	ExAC,gnomAD
SMAD2	Q15796	p.Thr92Met	rs984513669	missense variant	-	NC_000018.10:g.47870526G>A	gnomAD
SMAD2	Q15796	p.Thr92Arg	rs984513669	missense variant	-	NC_000018.10:g.47870526G>C	gnomAD
SMAD2	Q15796	p.Asp94Asn	rs780848010	missense variant	-	NC_000018.10:g.47870521C>T	ExAC,gnomAD
SMAD2	Q15796	p.Gln95His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47870516C>A	NCI-TCGA
SMAD2	Q15796	p.Gln95Arg	rs1445556377	missense variant	-	NC_000018.10:g.47870517T>C	gnomAD
SMAD2	Q15796	p.Gln95Glu	rs757084234	missense variant	-	NC_000018.10:g.47870518G>C	ExAC,gnomAD
SMAD2	Q15796	p.Thr98Ala	rs1204906548	missense variant	-	NC_000018.10:g.47870509T>C	TOPMed
SMAD2	Q15796	p.Thr98Ile	rs1312562947	missense variant	-	NC_000018.10:g.47870508G>A	gnomAD
SMAD2	Q15796	p.Gly100Asp	rs1234431657	missense variant	-	NC_000018.10:g.47870502C>T	TOPMed
SMAD2	Q15796	p.Ser103Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47870493C>A	NCI-TCGA
SMAD2	Q15796	p.Phe104Leu	rs763832609	missense variant	-	NC_000018.10:g.47870491A>G	ExAC,gnomAD
SMAD2	Q15796	p.Gln107Arg	rs762509218	missense variant	-	NC_000018.10:g.47870481T>C	ExAC,gnomAD
SMAD2	Q15796	p.Thr108Ile	rs752221087	missense variant	-	NC_000018.10:g.47870478G>A	ExAC,gnomAD
SMAD2	Q15796	p.Arg114His	rs1404495202	missense variant	-	NC_000018.10:g.47869422C>T	TOPMed
SMAD2	Q15796	p.Arg114Gly	rs1458298591	missense variant	-	NC_000018.10:g.47869423G>C	gnomAD
SMAD2	Q15796	p.Ser118Cys	rs767928066	missense variant	-	NC_000018.10:g.47869410G>C	ExAC,gnomAD
SMAD2	Q15796	p.His119Arg	rs1452605724	missense variant	-	NC_000018.10:g.47869407T>C	TOPMed
SMAD2	Q15796	p.Arg120Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47869405G>A	NCI-TCGA
SMAD2	Q15796	p.Arg120Gln	rs374809046	missense variant	-	NC_000018.10:g.47869404C>T	ESP,ExAC,gnomAD
SMAD2	Q15796	p.Gly122Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47869399C>A	NCI-TCGA
SMAD2	Q15796	p.Gly122Val	COSM473873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47869398C>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Pro124Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47869393G>T	NCI-TCGA
SMAD2	Q15796	p.Ile127Met	rs746965273	missense variant	-	NC_000018.10:g.47869382T>C	ExAC,gnomAD
SMAD2	Q15796	p.Arg130Ter	COSM6023533	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.47869375G>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Arg130Gln	rs372254986	missense variant	-	NC_000018.10:g.47869374C>T	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Arg133His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47869365C>T	NCI-TCGA
SMAD2	Q15796	p.Arg133Cys	COSM3378505	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47869366G>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Arg133Cys	VAR_011375	Missense	-	-	UniProt
SMAD2	Q15796	p.Trp134Ter	rs1267982516	stop gained	-	NC_000018.10:g.47869361C>T	TOPMed
SMAD2	Q15796	p.Pro135Ser	rs1405142772	missense variant	-	NC_000018.10:g.47869360G>A	gnomAD
SMAD2	Q15796	p.Asp136Val	COSM4072376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47869356T>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.His141Gln	rs749306809	missense variant	-	NC_000018.10:g.47869340A>T	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Glu142Ter	COSM1226714	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.47869339C>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Lys144Arg	rs753418067	missense variant	-	NC_000018.10:g.47869332T>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Lys144Thr	rs753418067	missense variant	-	NC_000018.10:g.47869332T>G	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ala145Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47869330C>T	NCI-TCGA
SMAD2	Q15796	p.Ala145Val	rs765857326	missense variant	-	NC_000018.10:g.47869329G>A	ExAC,gnomAD
SMAD2	Q15796	p.Ile146Val	rs368541611	missense variant	-	NC_000018.10:g.47869327T>C	ESP
SMAD2	Q15796	p.Ile146Met	rs756633093	missense variant	-	NC_000018.10:g.47869325A>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Cys149Tyr	COSM4072374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47869317C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Glu150Lys	rs200841904	missense variant	-	NC_000018.10:g.47869315C>T	TOPMed,gnomAD
SMAD2	Q15796	p.Phe153Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47869306A>C	NCI-TCGA
SMAD2	Q15796	p.Lys156Glu	COSM3526089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47869297T>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Lys157Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47869293T>G	NCI-TCGA
SMAD2	Q15796	p.Lys157Arg	rs750959440	missense variant	-	NC_000018.10:g.47869293T>C	ExAC,gnomAD
SMAD2	Q15796	p.Glu159Ter	RCV000480930	nonsense	-	NC_000018.10:g.47869288C>A	ClinVar
SMAD2	Q15796	p.Glu159Asp	COSM4874108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47869286T>G	NCI-TCGA Cosmic
SMAD2	Q15796	p.Glu159Ter	rs1064793873	stop gained	-	NC_000018.10:g.47869288C>A	-
SMAD2	Q15796	p.Tyr165Ter	COSM4072372	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.47869268G>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Glu171Gln	rs1221585986	missense variant	-	NC_000018.10:g.47869252C>G	gnomAD
SMAD2	Q15796	p.Pro173Ser	rs1404671002	missense variant	-	NC_000018.10:g.47869246G>A	gnomAD
SMAD2	Q15796	p.Pro176Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47868451G>C	NCI-TCGA
SMAD2	Q15796	p.Pro176Leu	rs1260546123	missense variant	-	NC_000018.10:g.47868451G>A	gnomAD
SMAD2	Q15796	p.Pro177Gln	rs751894908	missense variant	-	NC_000018.10:g.47868448G>T	ExAC
SMAD2	Q15796	p.Val180Met	rs1397643390	missense variant	-	NC_000018.10:g.47868440C>T	gnomAD
SMAD2	Q15796	p.Pro181Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47868436G>A	NCI-TCGA
SMAD2	Q15796	p.Pro181Arg	rs1474511926	missense variant	-	NC_000018.10:g.47868436G>C	gnomAD
SMAD2	Q15796	p.Arg182Gly	rs370352616	missense variant	-	NC_000018.10:g.47868434G>C	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Arg182AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.47868434G>-	NCI-TCGA
SMAD2	Q15796	p.Arg182Ter	COSM3772569	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.47868434G>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Arg182Gln	rs752926868	missense variant	-	NC_000018.10:g.47868433C>T	ExAC
SMAD2	Q15796	p.Ile186Phe	rs773233757	missense variant	-	NC_000018.10:g.47868422T>A	ExAC,gnomAD
SMAD2	Q15796	p.Leu187Ile	rs772166220	missense variant	-	NC_000018.10:g.47868419G>T	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Thr188GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.47868416_47868417insCTCC	NCI-TCGA
SMAD2	Q15796	p.Thr188IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.47868415_47868416insAA	NCI-TCGA
SMAD2	Q15796	p.Glu189Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47868413C>A	NCI-TCGA
SMAD2	Q15796	p.Leu190Ile	rs761881557	missense variant	-	NC_000018.10:g.47868410G>T	ExAC,gnomAD
SMAD2	Q15796	p.Leu190Arg	rs774275037	missense variant	-	NC_000018.10:g.47868409A>C	ExAC,gnomAD
SMAD2	Q15796	p.Pro191Leu	rs1293658510	missense variant	-	NC_000018.10:g.47868406G>A	TOPMed,gnomAD
SMAD2	Q15796	p.Thr197Asn	rs1400171724	missense variant	-	NC_000018.10:g.47868388G>T	TOPMed
SMAD2	Q15796	p.His198Tyr	COSM4871329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47868386G>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Ser199Phe	rs576952880	missense variant	-	NC_000018.10:g.47868382G>A	1000Genomes,ExAC,gnomAD
SMAD2	Q15796	p.Ser199Thr	rs1378562573	missense variant	-	NC_000018.10:g.47868383A>T	TOPMed
SMAD2	Q15796	p.Ser199Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47868382G>C	NCI-TCGA
SMAD2	Q15796	p.Pro201Leu	rs1403763933	missense variant	-	NC_000018.10:g.47868376G>A	gnomAD
SMAD2	Q15796	p.Thr204Ala	rs745402632	missense variant	-	NC_000018.10:g.47868368T>C	ExAC,gnomAD
SMAD2	Q15796	p.Asn205Lys	rs780724388	missense variant	-	NC_000018.10:g.47868363G>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Asn205Lys	rs780724388	missense variant	-	NC_000018.10:g.47868363G>T	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ile210Thr	rs1379477222	missense variant	-	NC_000018.10:g.47868349A>G	TOPMed
SMAD2	Q15796	p.Pro212Ala	rs1256444049	missense variant	-	NC_000018.10:g.47868344G>C	gnomAD
SMAD2	Q15796	p.Gln213Arg	rs1229783049	missense variant	-	NC_000018.10:g.47868340T>C	TOPMed
SMAD2	Q15796	p.Asn215Asp	rs376826930	missense variant	-	NC_000018.10:g.47868335T>C	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ile217Met	rs758691198	missense variant	-	NC_000018.10:g.47868327A>C	ExAC,gnomAD
SMAD2	Q15796	p.Ile217Val	rs1339131203	missense variant	-	NC_000018.10:g.47868329T>C	gnomAD
SMAD2	Q15796	p.Pro221AlaPheSerTerUnk	COSM988683	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.47865129_47865130insG	NCI-TCGA Cosmic
SMAD2	Q15796	p.Glu228Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47865107C>A	NCI-TCGA
SMAD2	Q15796	p.Gln235Arg	rs1230285434	missense variant	-	NC_000018.10:g.47865085T>C	TOPMed
SMAD2	Q15796	p.Gln236His	rs139059864	missense variant	-	NC_000018.10:g.47865081C>A	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Leu237Phe	rs550137610	missense variant	-	NC_000018.10:g.47865078C>G	gnomAD
SMAD2	Q15796	p.Asp242Glu	rs759180220	missense variant	-	NC_000018.10:g.47865063G>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Pro246Gln	rs781385587	missense variant	-	NC_000018.10:g.47851321G>T	ExAC,gnomAD
SMAD2	Q15796	p.Ser250Phe	COSM3526085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47851309G>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Ser250Pro	rs752743372	missense variant	-	NC_000018.10:g.47851310A>G	ExAC,gnomAD
SMAD2	Q15796	p.Thr252Ala	rs1204398491	missense variant	-	NC_000018.10:g.47851304T>C	TOPMed,gnomAD
SMAD2	Q15796	p.Ser255Tyr	rs915038104	missense variant	-	NC_000018.10:g.47851294G>T	TOPMed,gnomAD
SMAD2	Q15796	p.Val257Ile	rs369079539	missense variant	-	NC_000018.10:g.47851289C>T	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Asn258Ter	RCV000624525	frameshift	Inborn genetic diseases	NC_000018.10:g.47851286dup	ClinVar
SMAD2	Q15796	p.Asn258Ile	rs759337336	missense variant	-	NC_000018.10:g.47851285T>A	ExAC,gnomAD
SMAD2	Q15796	p.Leu261Val	rs753437227	missense variant	-	NC_000018.10:g.47851277A>C	ExAC,gnomAD
SMAD2	Q15796	p.Leu261Phe	rs369482219	missense variant	-	NC_000018.10:g.47851275C>G	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Asp262Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47851274C>A	NCI-TCGA
SMAD2	Q15796	p.Gln264Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47848681T>A	NCI-TCGA
SMAD2	Q15796	p.Val266Ala	rs747142122	missense variant	-	NC_000018.10:g.47848675A>G	ExAC,gnomAD
SMAD2	Q15796	p.Pro271Arg	rs1224967821	missense variant	-	NC_000018.10:g.47848660G>C	gnomAD
SMAD2	Q15796	p.Trp274Cys	rs367537998	missense variant	-	NC_000018.10:g.47848650C>G	-
SMAD2	Q15796	p.Trp274Cys	RCV000122601	missense variant	-	NC_000018.10:g.47848650C>G	ClinVar
SMAD2	Q15796	p.Ser276Leu	rs1226662382	missense variant	-	NC_000018.10:g.47848645G>A	TOPMed
SMAD2	Q15796	p.Ile277Val	rs749281211	missense variant	-	NC_000018.10:g.47848643T>C	ExAC,gnomAD
SMAD2	Q15796	p.Tyr280Cys	rs779820262	missense variant	-	NC_000018.10:g.47848633T>C	ExAC,gnomAD
SMAD2	Q15796	p.Glu281Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47848631C>A	NCI-TCGA
SMAD2	Q15796	p.Val286Ile	rs1303977366	missense variant	-	NC_000018.10:g.47848616C>T	gnomAD
SMAD2	Q15796	p.Ser293Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47848594G>A	NCI-TCGA
SMAD2	Q15796	p.Gln294Leu	rs749996078	missense variant	-	NC_000018.10:g.47848591T>A	ExAC,gnomAD
SMAD2	Q15796	p.Asp300Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47848574C>A	NCI-TCGA
SMAD2	Q15796	p.Asp300Asn	COSM177257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47848574C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Asp300Val	VAR_036473	Missense	-	-	UniProt
SMAD2	Q15796	p.Gly301Val	COSM4861792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47848570C>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Asp304Asn	rs574940841	missense variant	-	NC_000018.10:g.47848562C>T	1000Genomes
SMAD2	Q15796	p.Pro305Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47848558G>T	NCI-TCGA
SMAD2	Q15796	p.Pro305Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47848559G>C	NCI-TCGA
SMAD2	Q15796	p.Pro305Leu	COSM256209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47848558G>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Ser306Ter	rs756901143	stop gained	-	NC_000018.10:g.47848555G>C	ExAC,gnomAD
SMAD2	Q15796	p.Asn307His	COSM277373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47848553T>G	NCI-TCGA Cosmic
SMAD2	Q15796	p.Asn307Asp	rs1401377883	missense variant	-	NC_000018.10:g.47848553T>C	TOPMed,gnomAD
SMAD2	Q15796	p.Ser308Leu	COSM5593210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47848549G>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Phe311Leu	COSM1480353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47848539G>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Phe311Leu	rs1179433290	missense variant	-	NC_000018.10:g.47848539G>T	TOPMed
SMAD2	Q15796	p.Cys312Ser	RCV000190697	missense variant	Inborn genetic diseases	NC_000018.10:g.47848537C>G	ClinVar
SMAD2	Q15796	p.Cys312Ser	rs797044882	missense variant	-	NC_000018.10:g.47848537C>G	-
SMAD2	Q15796	p.Leu315Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47848528A>C	NCI-TCGA
SMAD2	Q15796	p.Leu316Phe	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47848526G>A	NCI-TCGA
SMAD2	Q15796	p.Arg321Gln	COSM188749	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47848510C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Arg321Ter	rs776149698	stop gained	-	NC_000018.10:g.47848511G>A	ExAC,gnomAD
SMAD2	Q15796	p.Asn322Ser	rs765635449	missense variant	-	NC_000018.10:g.47848507T>C	ExAC,gnomAD
SMAD2	Q15796	p.Ala323Val	COSM4873847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47848504G>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Thr324Met	rs561086683	missense variant	-	NC_000018.10:g.47848501G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Glu326Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47848495T>G	NCI-TCGA
SMAD2	Q15796	p.Met327Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47848491C>G	NCI-TCGA
SMAD2	Q15796	p.Ile332Thr	rs1555645561	missense variant	-	NC_000018.10:g.47848477A>G	-
SMAD2	Q15796	p.Ile332Thr	RCV000523517	missense variant	-	NC_000018.10:g.47848477A>G	ClinVar
SMAD2	Q15796	p.Gly335Arg	COSM3692137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47845795C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Gly335Glu	COSM4865635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47845794C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Val336Ala	rs1237400140	missense variant	-	NC_000018.10:g.47845791A>G	TOPMed
SMAD2	Q15796	p.Arg337His	COSM5800553	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47845788C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Arg337Cys	rs1040132520	missense variant	-	NC_000018.10:g.47845789G>A	TOPMed
SMAD2	Q15796	p.Ile341Leu	rs774455933	missense variant	-	NC_000018.10:g.47845777T>G	ExAC,gnomAD
SMAD2	Q15796	p.Glu344Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47845768C>A	NCI-TCGA
SMAD2	Q15796	p.Glu344_Gln358del	VAR_011376	inframe_deletion	-	-	UniProt
SMAD2	Q15796	p.Phe356Cys	COSM438160	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47845731A>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Val357Met	rs1260616027	missense variant	-	NC_000018.10:g.47845729C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Val357Met	rs1260616027	missense variant	-	NC_000018.10:g.47845729C>T	gnomAD
SMAD2	Q15796	p.Gln364Pro	COSM3796431	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47845707T>G	NCI-TCGA Cosmic
SMAD2	Q15796	p.Gln364His	rs1472524489	missense variant	-	NC_000018.10:g.47845706C>A	TOPMed
SMAD2	Q15796	p.Trp368Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47845696A>G	NCI-TCGA
SMAD2	Q15796	p.His369Asp	rs781040342	missense variant	-	NC_000018.10:g.47845693G>C	ExAC,gnomAD
SMAD2	Q15796	p.Pro370Ser	rs1416015925	missense variant	-	NC_000018.10:g.47845690G>A	TOPMed
SMAD2	Q15796	p.Cys374Ter	NCI-TCGA novel	frameshift	-	NC_000018.10:g.47845676_47845677AC>-	NCI-TCGA
SMAD2	Q15796	p.Lys375Arg	rs1253511855	missense variant	-	NC_000018.10:g.47845674T>C	gnomAD
SMAD2	Q15796	p.Pro378Ser	rs1228636317	missense variant	-	NC_000018.10:g.47845666G>A	gnomAD
SMAD2	Q15796	p.Asn386IleGlyCysAsnLeuLysIlePheAsn	NCI-TCGA novel	insertion	-	NC_000018.10:g.47845460_47845461insTGTTGAAGATCTTCAGATTACAGCCTA	NCI-TCGA
SMAD2	Q15796	p.Gln388Arg	rs746828424	missense variant	-	NC_000018.10:g.47845457T>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Phe390Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47845451A>C	NCI-TCGA
SMAD2	Q15796	p.Ala392Gly	rs1365824874	missense variant	-	NC_000018.10:g.47845445G>C	gnomAD
SMAD2	Q15796	p.Leu394Met	rs771824876	missense variant	-	NC_000018.10:g.47845440G>T	ExAC,gnomAD
SMAD2	Q15796	p.Ala395Ser	rs747866189	missense variant	-	NC_000018.10:g.47845437C>A	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Gln396Leu	rs1418856322	missense variant	-	NC_000018.10:g.47845433T>A	gnomAD
SMAD2	Q15796	p.Ser397Phe	COSM3526083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47845430G>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Val398Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47845427A>G	NCI-TCGA
SMAD2	Q15796	p.Gln400Lys	rs754313157	missense variant	-	NC_000018.10:g.47845422G>T	ExAC,gnomAD
SMAD2	Q15796	p.Gln400Glu	rs754313157	missense variant	-	NC_000018.10:g.47845422G>C	ExAC,gnomAD
SMAD2	Q15796	p.Phe402LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.47845414A>-	NCI-TCGA
SMAD2	Q15796	p.Phe402Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47845415A>C	NCI-TCGA
SMAD2	Q15796	p.Val405Ile	rs1291358405	missense variant	-	NC_000018.10:g.47845407C>T	gnomAD
SMAD2	Q15796	p.Tyr406LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.47845403_47845404insCTTTATGTAAAATA	NCI-TCGA
SMAD2	Q15796	p.Gln407Glu	COSM4859795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47845401G>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Ile414Val	rs1220285331	missense variant	-	NC_000018.10:g.47845380T>C	gnomAD
SMAD2	Q15796	p.Arg415Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47845376C>A	NCI-TCGA
SMAD2	Q15796	p.Ser417Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47845371T>G	NCI-TCGA
SMAD2	Q15796	p.Gly421Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47845358C>G	NCI-TCGA
SMAD2	Q15796	p.Gly421Trp	COSM6082720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47845359C>A	NCI-TCGA Cosmic
SMAD2	Q15796	p.Tyr426Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47845342G>T	NCI-TCGA
SMAD2	Q15796	p.Arg427Ter	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47845341G>A	NCI-TCGA
SMAD2	Q15796	p.Arg428Lys	COSM1388905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47841948C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Gln429Ter	rs1420438415	stop gained	-	NC_000018.10:g.47841946G>A	gnomAD
SMAD2	Q15796	p.Thr430Met	rs747308534	missense variant	-	NC_000018.10:g.47841942G>A	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ser433Gly	COSM1471120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47841934T>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Ser433Arg	rs79888759	missense variant	-	NC_000018.10:g.47841932A>T	ExAC,gnomAD
SMAD2	Q15796	p.Thr434Ser	rs753031846	missense variant	-	NC_000018.10:g.47841931T>A	ExAC,gnomAD
SMAD2	Q15796	p.Pro435Ser	rs1236865589	missense variant	-	NC_000018.10:g.47841928G>A	gnomAD
SMAD2	Q15796	p.Leu440Arg	VAR_011377	Missense	-	-	UniProt
SMAD2	Q15796	p.Leu442Val	COSM438159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47841907G>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Pro445His	VAR_011378	Missense	-	-	UniProt
SMAD2	Q15796	p.Leu446Val	COSM417832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47841895G>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Asp450Asn	COSM6082722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47841883C>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Asp450Glu	COSM6053942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47841881G>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Asp450Glu	VAR_011379	Missense	-	-	UniProt
SMAD2	Q15796	p.Lys451Glu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47841880T>C	NCI-TCGA
SMAD2	Q15796	p.Gln455Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47841868G>A	NCI-TCGA
SMAD2	Q15796	p.Met456Val	rs761858331	missense variant	-	NC_000018.10:g.47841865T>C	ExAC,gnomAD
SMAD2	Q15796	p.Gly457Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.47841861C>G	NCI-TCGA
SMAD2	Q15796	p.Cys463Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.47841842G>T	NCI-TCGA
SMAD2	Q15796	p.Cys463GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.47841841_47841844AGCA>-	NCI-TCGA
SMAD2	Q15796	p.Ser464Ter	COSM268520	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.47841840G>C	NCI-TCGA Cosmic
SMAD2	Q15796	p.Ser464Ter	COSM268154	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.47841840G>T	NCI-TCGA Cosmic
SMAD2	Q15796	p.Ser467Pro	COSM5118504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.47841832A>G	NCI-TCGA Cosmic
SMAD2	Q15796	p.Thr8Met	rs1341462958	missense variant	-	NC_000018.10:g.47896734G>A	gnomAD
SMAD2	Q15796	p.Pro9Leu	rs749758342	missense variant	-	NC_000018.10:g.47896731G>A	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Trp18Ter	rs1555658568	stop gained	-	NC_000018.10:g.47896704C>T	-
SMAD2	Q15796	p.Trp18Ter	RCV000578545	nonsense	-	NC_000018.10:g.47896704C>T	ClinVar
SMAD2	Q15796	p.Gly24Arg	rs747301606	missense variant	-	NC_000018.10:g.47896687C>G	ExAC
SMAD2	Q15796	p.Ser25Cys	rs143058641	missense variant	-	NC_000018.10:g.47896683G>C	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Gly27Glu	rs1186363719	missense variant	-	NC_000018.10:g.47896677C>T	gnomAD
SMAD2	Q15796	p.Gly30Val	rs1239673820	missense variant	-	NC_000018.10:g.47896668C>A	TOPMed
SMAD2	Q15796	p.Asn34Ile	rs1239631809	missense variant	-	NC_000018.10:g.47896656T>A	gnomAD
SMAD2	Q15796	p.Lys39Arg	rs1178643701	missense variant	-	NC_000018.10:g.47896641T>C	gnomAD
SMAD2	Q15796	p.Ala44Thr	rs1456954386	missense variant	-	NC_000018.10:g.47896627C>T	gnomAD
SMAD2	Q15796	p.Lys54Ile	rs1445838443	missense variant	-	NC_000018.10:g.47896596T>A	gnomAD
SMAD2	Q15796	p.Leu58Ter	RCV000494088	nonsense	-	NC_000018.10:g.47896584A>T	ClinVar
SMAD2	Q15796	p.Leu58Ter	rs1131691755	stop gained	-	NC_000018.10:g.47896584A>T	-
SMAD2	Q15796	p.Asp59Glu	rs375368905	missense variant	-	NC_000018.10:g.47896580A>T	ESP,ExAC,gnomAD
SMAD2	Q15796	p.Ile65Val	rs1242869146	missense variant	-	NC_000018.10:g.47896564T>C	gnomAD
SMAD2	Q15796	p.Thr76Ala	rs1374795369	missense variant	-	NC_000018.10:g.47896531T>C	gnomAD
SMAD2	Q15796	p.Ile77Lys	rs1326742866	missense variant	-	NC_000018.10:g.47896527A>T	gnomAD
SMAD2	Q15796	p.Pro78Gln	rs761359766	missense variant	-	NC_000018.10:g.47896524G>T	ExAC,gnomAD
SMAD2	Q15796	p.Cys81Phe	rs908853616	missense variant	-	NC_000018.10:g.47870559C>A	TOPMed,gnomAD
SMAD2	Q15796	p.Ile84Phe	rs1418778323	missense variant	-	NC_000018.10:g.47870551T>A	gnomAD
SMAD2	Q15796	p.Leu87Pro	rs779006352	missense variant	-	NC_000018.10:g.47870541A>G	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ser88Asn	rs1173764083	missense variant	-	NC_000018.10:g.47870538C>T	gnomAD
SMAD2	Q15796	p.Pro90Ser	rs756023240	missense variant	-	NC_000018.10:g.47870533G>A	ExAC,gnomAD
SMAD2	Q15796	p.Pro90Thr	rs756023240	missense variant	-	NC_000018.10:g.47870533G>T	ExAC,gnomAD
SMAD2	Q15796	p.Asn91Asp	rs750419429	missense variant	-	NC_000018.10:g.47870530T>C	ExAC,gnomAD
SMAD2	Q15796	p.Thr92Met	rs984513669	missense variant	-	NC_000018.10:g.47870526G>A	gnomAD
SMAD2	Q15796	p.Thr92Arg	rs984513669	missense variant	-	NC_000018.10:g.47870526G>C	gnomAD
SMAD2	Q15796	p.Asp94Asn	rs780848010	missense variant	-	NC_000018.10:g.47870521C>T	ExAC,gnomAD
SMAD2	Q15796	p.Gln95Glu	rs757084234	missense variant	-	NC_000018.10:g.47870518G>C	ExAC,gnomAD
SMAD2	Q15796	p.Gln95Arg	rs1445556377	missense variant	-	NC_000018.10:g.47870517T>C	gnomAD
SMAD2	Q15796	p.Thr98Ile	rs1312562947	missense variant	-	NC_000018.10:g.47870508G>A	gnomAD
SMAD2	Q15796	p.Thr98Ala	rs1204906548	missense variant	-	NC_000018.10:g.47870509T>C	TOPMed
SMAD2	Q15796	p.Gly100Asp	rs1234431657	missense variant	-	NC_000018.10:g.47870502C>T	TOPMed
SMAD2	Q15796	p.Phe104Leu	rs763832609	missense variant	-	NC_000018.10:g.47870491A>G	ExAC,gnomAD
SMAD2	Q15796	p.Gln107Arg	rs762509218	missense variant	-	NC_000018.10:g.47870481T>C	ExAC,gnomAD
SMAD2	Q15796	p.Thr108Ile	rs752221087	missense variant	-	NC_000018.10:g.47870478G>A	ExAC,gnomAD
SMAD2	Q15796	p.Arg114Gly	rs1458298591	missense variant	-	NC_000018.10:g.47869423G>C	gnomAD
SMAD2	Q15796	p.Arg114His	rs1404495202	missense variant	-	NC_000018.10:g.47869422C>T	TOPMed
SMAD2	Q15796	p.Ser118Cys	rs767928066	missense variant	-	NC_000018.10:g.47869410G>C	ExAC,gnomAD
SMAD2	Q15796	p.His119Arg	rs1452605724	missense variant	-	NC_000018.10:g.47869407T>C	TOPMed
SMAD2	Q15796	p.Arg120Gln	rs374809046	missense variant	-	NC_000018.10:g.47869404C>T	ESP,ExAC,gnomAD
SMAD2	Q15796	p.Ile127Met	rs746965273	missense variant	-	NC_000018.10:g.47869382T>C	ExAC,gnomAD
SMAD2	Q15796	p.Arg130Gln	rs372254986	missense variant	-	NC_000018.10:g.47869374C>T	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Arg133Cys	VAR_011375	Missense	-	-	UniProt
SMAD2	Q15796	p.Trp134Ter	rs1267982516	stop gained	-	NC_000018.10:g.47869361C>T	TOPMed
SMAD2	Q15796	p.Pro135Ser	rs1405142772	missense variant	-	NC_000018.10:g.47869360G>A	gnomAD
SMAD2	Q15796	p.His141Gln	rs749306809	missense variant	-	NC_000018.10:g.47869340A>T	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Lys144Thr	rs753418067	missense variant	-	NC_000018.10:g.47869332T>G	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Lys144Arg	rs753418067	missense variant	-	NC_000018.10:g.47869332T>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ala145Val	rs765857326	missense variant	-	NC_000018.10:g.47869329G>A	ExAC,gnomAD
SMAD2	Q15796	p.Ile146Met	rs756633093	missense variant	-	NC_000018.10:g.47869325A>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ile146Val	rs368541611	missense variant	-	NC_000018.10:g.47869327T>C	ESP
SMAD2	Q15796	p.Glu150Lys	rs200841904	missense variant	-	NC_000018.10:g.47869315C>T	TOPMed,gnomAD
SMAD2	Q15796	p.Lys157Arg	rs750959440	missense variant	-	NC_000018.10:g.47869293T>C	ExAC,gnomAD
SMAD2	Q15796	p.Glu159Ter	RCV000480930	nonsense	-	NC_000018.10:g.47869288C>A	ClinVar
SMAD2	Q15796	p.Glu159Ter	rs1064793873	stop gained	-	NC_000018.10:g.47869288C>A	-
SMAD2	Q15796	p.Glu171Gln	rs1221585986	missense variant	-	NC_000018.10:g.47869252C>G	gnomAD
SMAD2	Q15796	p.Pro173Ser	rs1404671002	missense variant	-	NC_000018.10:g.47869246G>A	gnomAD
SMAD2	Q15796	p.Pro176Leu	rs1260546123	missense variant	-	NC_000018.10:g.47868451G>A	gnomAD
SMAD2	Q15796	p.Pro177Gln	rs751894908	missense variant	-	NC_000018.10:g.47868448G>T	ExAC
SMAD2	Q15796	p.Val180Met	rs1397643390	missense variant	-	NC_000018.10:g.47868440C>T	gnomAD
SMAD2	Q15796	p.Pro181Arg	rs1474511926	missense variant	-	NC_000018.10:g.47868436G>C	gnomAD
SMAD2	Q15796	p.Arg182Gly	rs370352616	missense variant	-	NC_000018.10:g.47868434G>C	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Arg182Gln	rs752926868	missense variant	-	NC_000018.10:g.47868433C>T	ExAC
SMAD2	Q15796	p.Ile186Phe	rs773233757	missense variant	-	NC_000018.10:g.47868422T>A	ExAC,gnomAD
SMAD2	Q15796	p.Leu187Ile	rs772166220	missense variant	-	NC_000018.10:g.47868419G>T	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Leu190Ile	rs761881557	missense variant	-	NC_000018.10:g.47868410G>T	ExAC,gnomAD
SMAD2	Q15796	p.Leu190Arg	rs774275037	missense variant	-	NC_000018.10:g.47868409A>C	ExAC,gnomAD
SMAD2	Q15796	p.Pro191Leu	rs1293658510	missense variant	-	NC_000018.10:g.47868406G>A	TOPMed,gnomAD
SMAD2	Q15796	p.Thr197Asn	rs1400171724	missense variant	-	NC_000018.10:g.47868388G>T	TOPMed
SMAD2	Q15796	p.Ser199Phe	rs576952880	missense variant	-	NC_000018.10:g.47868382G>A	1000Genomes,ExAC,gnomAD
SMAD2	Q15796	p.Ser199Thr	rs1378562573	missense variant	-	NC_000018.10:g.47868383A>T	TOPMed
SMAD2	Q15796	p.Pro201Leu	rs1403763933	missense variant	-	NC_000018.10:g.47868376G>A	gnomAD
SMAD2	Q15796	p.Thr204Ala	rs745402632	missense variant	-	NC_000018.10:g.47868368T>C	ExAC,gnomAD
SMAD2	Q15796	p.Asn205Lys	rs780724388	missense variant	-	NC_000018.10:g.47868363G>T	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Asn205Lys	rs780724388	missense variant	-	NC_000018.10:g.47868363G>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ile210Thr	rs1379477222	missense variant	-	NC_000018.10:g.47868349A>G	TOPMed
SMAD2	Q15796	p.Pro212Ala	rs1256444049	missense variant	-	NC_000018.10:g.47868344G>C	gnomAD
SMAD2	Q15796	p.Gln213Arg	rs1229783049	missense variant	-	NC_000018.10:g.47868340T>C	TOPMed
SMAD2	Q15796	p.Asn215Asp	rs376826930	missense variant	-	NC_000018.10:g.47868335T>C	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ile217Met	rs758691198	missense variant	-	NC_000018.10:g.47868327A>C	ExAC,gnomAD
SMAD2	Q15796	p.Ile217Val	rs1339131203	missense variant	-	NC_000018.10:g.47868329T>C	gnomAD
SMAD2	Q15796	p.Gln235Arg	rs1230285434	missense variant	-	NC_000018.10:g.47865085T>C	TOPMed
SMAD2	Q15796	p.Gln236His	rs139059864	missense variant	-	NC_000018.10:g.47865081C>A	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Leu237Phe	rs550137610	missense variant	-	NC_000018.10:g.47865078C>G	gnomAD
SMAD2	Q15796	p.Asp242Glu	rs759180220	missense variant	-	NC_000018.10:g.47865063G>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Pro246Gln	rs781385587	missense variant	-	NC_000018.10:g.47851321G>T	ExAC,gnomAD
SMAD2	Q15796	p.Ser250Pro	rs752743372	missense variant	-	NC_000018.10:g.47851310A>G	ExAC,gnomAD
SMAD2	Q15796	p.Thr252Ala	rs1204398491	missense variant	-	NC_000018.10:g.47851304T>C	TOPMed,gnomAD
SMAD2	Q15796	p.Ser255Tyr	rs915038104	missense variant	-	NC_000018.10:g.47851294G>T	TOPMed,gnomAD
SMAD2	Q15796	p.Val257Ile	rs369079539	missense variant	-	NC_000018.10:g.47851289C>T	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Asn258Ile	rs759337336	missense variant	-	NC_000018.10:g.47851285T>A	ExAC,gnomAD
SMAD2	Q15796	p.Asn258Ter	RCV000624525	frameshift	Inborn genetic diseases	NC_000018.10:g.47851286dup	ClinVar
SMAD2	Q15796	p.Leu261Phe	rs369482219	missense variant	-	NC_000018.10:g.47851275C>G	ESP,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Leu261Val	rs753437227	missense variant	-	NC_000018.10:g.47851277A>C	ExAC,gnomAD
SMAD2	Q15796	p.Val266Ala	rs747142122	missense variant	-	NC_000018.10:g.47848675A>G	ExAC,gnomAD
SMAD2	Q15796	p.Pro271Arg	rs1224967821	missense variant	-	NC_000018.10:g.47848660G>C	gnomAD
SMAD2	Q15796	p.Trp274Cys	rs367537998	missense variant	-	NC_000018.10:g.47848650C>G	-
SMAD2	Q15796	p.Trp274Cys	RCV000122601	missense variant	-	NC_000018.10:g.47848650C>G	ClinVar
SMAD2	Q15796	p.Ser276Leu	rs1226662382	missense variant	-	NC_000018.10:g.47848645G>A	TOPMed
SMAD2	Q15796	p.Ile277Val	rs749281211	missense variant	-	NC_000018.10:g.47848643T>C	ExAC,gnomAD
SMAD2	Q15796	p.Tyr280Cys	rs779820262	missense variant	-	NC_000018.10:g.47848633T>C	ExAC,gnomAD
SMAD2	Q15796	p.Val286Ile	rs1303977366	missense variant	-	NC_000018.10:g.47848616C>T	gnomAD
SMAD2	Q15796	p.Gln294Leu	rs749996078	missense variant	-	NC_000018.10:g.47848591T>A	ExAC,gnomAD
SMAD2	Q15796	p.Asp300Val	VAR_036473	Missense	-	-	UniProt
SMAD2	Q15796	p.Asp304Asn	rs574940841	missense variant	-	NC_000018.10:g.47848562C>T	1000Genomes
SMAD2	Q15796	p.Ser306Ter	rs756901143	stop gained	-	NC_000018.10:g.47848555G>C	ExAC,gnomAD
SMAD2	Q15796	p.Asn307Asp	rs1401377883	missense variant	-	NC_000018.10:g.47848553T>C	TOPMed,gnomAD
SMAD2	Q15796	p.Phe311Leu	rs1179433290	missense variant	-	NC_000018.10:g.47848539G>T	TOPMed
SMAD2	Q15796	p.Cys312Ser	RCV000190697	missense variant	Inborn genetic diseases	NC_000018.10:g.47848537C>G	ClinVar
SMAD2	Q15796	p.Cys312Ser	rs797044882	missense variant	-	NC_000018.10:g.47848537C>G	-
SMAD2	Q15796	p.Arg321Ter	rs776149698	stop gained	-	NC_000018.10:g.47848511G>A	ExAC,gnomAD
SMAD2	Q15796	p.Asn322Ser	rs765635449	missense variant	-	NC_000018.10:g.47848507T>C	ExAC,gnomAD
SMAD2	Q15796	p.Thr324Met	rs561086683	missense variant	-	NC_000018.10:g.47848501G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ile332Thr	rs1555645561	missense variant	-	NC_000018.10:g.47848477A>G	-
SMAD2	Q15796	p.Ile332Thr	RCV000523517	missense variant	-	NC_000018.10:g.47848477A>G	ClinVar
SMAD2	Q15796	p.Val336Ala	rs1237400140	missense variant	-	NC_000018.10:g.47845791A>G	TOPMed
SMAD2	Q15796	p.Arg337Cys	rs1040132520	missense variant	-	NC_000018.10:g.47845789G>A	TOPMed
SMAD2	Q15796	p.Ile341Leu	rs774455933	missense variant	-	NC_000018.10:g.47845777T>G	ExAC,gnomAD
SMAD2	Q15796	p.Glu344_Gln358del	VAR_011376	inframe_deletion	-	-	UniProt
SMAD2	Q15796	p.Val357Met	rs1260616027	missense variant	-	NC_000018.10:g.47845729C>T	gnomAD
SMAD2	Q15796	p.Gln364His	rs1472524489	missense variant	-	NC_000018.10:g.47845706C>A	TOPMed
SMAD2	Q15796	p.His369Asp	rs781040342	missense variant	-	NC_000018.10:g.47845693G>C	ExAC,gnomAD
SMAD2	Q15796	p.Pro370Ser	rs1416015925	missense variant	-	NC_000018.10:g.47845690G>A	TOPMed
SMAD2	Q15796	p.Lys375Arg	rs1253511855	missense variant	-	NC_000018.10:g.47845674T>C	gnomAD
SMAD2	Q15796	p.Pro378Ser	rs1228636317	missense variant	-	NC_000018.10:g.47845666G>A	gnomAD
SMAD2	Q15796	p.Gln388Arg	rs746828424	missense variant	-	NC_000018.10:g.47845457T>C	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ala392Gly	rs1365824874	missense variant	-	NC_000018.10:g.47845445G>C	gnomAD
SMAD2	Q15796	p.Leu394Met	rs771824876	missense variant	-	NC_000018.10:g.47845440G>T	ExAC,gnomAD
SMAD2	Q15796	p.Ala395Ser	rs747866189	missense variant	-	NC_000018.10:g.47845437C>A	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Gln396Leu	rs1418856322	missense variant	-	NC_000018.10:g.47845433T>A	gnomAD
SMAD2	Q15796	p.Gln400Glu	rs754313157	missense variant	-	NC_000018.10:g.47845422G>C	ExAC,gnomAD
SMAD2	Q15796	p.Gln400Lys	rs754313157	missense variant	-	NC_000018.10:g.47845422G>T	ExAC,gnomAD
SMAD2	Q15796	p.Val405Ile	rs1291358405	missense variant	-	NC_000018.10:g.47845407C>T	gnomAD
SMAD2	Q15796	p.Ile414Val	rs1220285331	missense variant	-	NC_000018.10:g.47845380T>C	gnomAD
SMAD2	Q15796	p.Gln429Ter	rs1420438415	stop gained	-	NC_000018.10:g.47841946G>A	gnomAD
SMAD2	Q15796	p.Thr430Met	rs747308534	missense variant	-	NC_000018.10:g.47841942G>A	ExAC,TOPMed,gnomAD
SMAD2	Q15796	p.Ser433Arg	rs79888759	missense variant	-	NC_000018.10:g.47841932A>T	ExAC,gnomAD
SMAD2	Q15796	p.Thr434Ser	rs753031846	missense variant	-	NC_000018.10:g.47841931T>A	ExAC,gnomAD
SMAD2	Q15796	p.Pro435Ser	rs1236865589	missense variant	-	NC_000018.10:g.47841928G>A	gnomAD
SMAD2	Q15796	p.Leu440Arg	VAR_011377	Missense	-	-	UniProt
SMAD2	Q15796	p.Pro445His	VAR_011378	Missense	-	-	UniProt
SMAD2	Q15796	p.Asp450Glu	VAR_011379	Missense	-	-	UniProt
SMAD2	Q15796	p.Met456Val	rs761858331	missense variant	-	NC_000018.10:g.47841865T>C	ExAC,gnomAD
SMAD1	Q15797	p.Asn2Ser	rs1466114055	missense variant	-	NC_000004.12:g.145514618A>G	TOPMed
SMAD1	Q15797	p.Val3Ala	RCV000054384	missense variant	Variant of unknown significance	NC_000004.12:g.145514621T>C	ClinVar
SMAD1	Q15797	p.Val3Ala	RCV000488453	missense variant	Primary pulmonary hypertension (PPH1)	NC_000004.12:g.145514621T>C	ClinVar
SMAD1	Q15797	p.Val3Ala	rs587777018	missense variant	-	NC_000004.12:g.145514621T>C	-
SMAD1	Q15797	p.Val3Ala	rs587777018	missense variant	-	NC_000004.12:g.145514621T>C	UniProt,dbSNP
SMAD1	Q15797	p.Val3Ala	VAR_066869	missense variant	-	NC_000004.12:g.145514621T>C	UniProt
SMAD1	Q15797	p.Leu6Val	rs1263555564	missense variant	-	NC_000004.12:g.145514629T>G	TOPMed
SMAD1	Q15797	p.Phe9Leu	rs1483244170	missense variant	-	NC_000004.12:g.145514640T>A	gnomAD
SMAD1	Q15797	p.Ala13Val	rs1427144576	missense variant	-	NC_000004.12:g.145514651C>T	gnomAD
SMAD1	Q15797	p.Ala13Thr	rs1198375823	missense variant	-	NC_000004.12:g.145514650G>A	gnomAD
SMAD1	Q15797	p.Val14Met	rs764152098	missense variant	-	NC_000004.12:g.145514653G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Lys15Asn	rs1314342936	missense variant	-	NC_000004.12:g.145514658G>T	TOPMed
SMAD1	Q15797	p.Leu18Ile	rs753790034	missense variant	-	NC_000004.12:g.145514665C>A	ExAC,gnomAD
SMAD1	Q15797	p.Gly23Val	rs778232288	missense variant	-	NC_000004.12:g.145514681G>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gly23Ala	rs778232288	missense variant	-	NC_000004.12:g.145514681G>C	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Trp29Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.145514700G>A	NCI-TCGA
SMAD1	Q15797	p.Trp29MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.145514692_145514693insA	NCI-TCGA
SMAD1	Q15797	p.Glu31AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.145514704_145514705insCAGAAGAGATTTGTTTATTTAC	NCI-TCGA
SMAD1	Q15797	p.Asp35Asn	COSM1309779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145514716G>A	NCI-TCGA Cosmic
SMAD1	Q15797	p.Ala36Thr	rs1288555676	missense variant	-	NC_000004.12:g.145514719G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Lys39Glu	COSM3600656	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145514728A>G	NCI-TCGA Cosmic
SMAD1	Q15797	p.Lys40AsnPheSerTerUnk	COSM1427368	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.145514728A>-	NCI-TCGA Cosmic
SMAD1	Q15797	p.Lys42Arg	rs1306391615	missense variant	-	NC_000004.12:g.145514738A>G	gnomAD
SMAD1	Q15797	p.Ala47Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145514753C>T	NCI-TCGA
SMAD1	Q15797	p.Met48Val	rs1276376128	missense variant	-	NC_000004.12:g.145514755A>G	gnomAD
SMAD1	Q15797	p.Met48IlePheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000004.12:g.145514756_145514757insTCCTAGTGTTTAAAAAA	NCI-TCGA
SMAD1	Q15797	p.Ala54Val	rs1166928530	missense variant	-	NC_000004.12:g.145514774C>T	TOPMed
SMAD1	Q15797	p.Cys57Ser	rs1266428811	missense variant	-	NC_000004.12:g.145514782T>A	gnomAD
SMAD1	Q15797	p.Cys57Phe	rs1447739675	missense variant	-	NC_000004.12:g.145514783G>T	TOPMed
SMAD1	Q15797	p.Pro58Thr	rs1489454560	missense variant	-	NC_000004.12:g.145514785C>A	gnomAD
SMAD1	Q15797	p.Pro61Leu	rs370506404	missense variant	-	NC_000004.12:g.145514795C>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro61Ser	rs748536621	missense variant	-	NC_000004.12:g.145514794C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Arg69Cys	rs1391030652	missense variant	-	NC_000004.12:g.145514818C>T	gnomAD
SMAD1	Q15797	p.Ser70Pro	rs1162136731	missense variant	-	NC_000004.12:g.145514821T>C	gnomAD
SMAD1	Q15797	p.Leu71Val	rs774689895	missense variant	-	NC_000004.12:g.145514824C>G	ExAC,gnomAD
SMAD1	Q15797	p.Arg80Pro	rs765216463	missense variant	-	NC_000004.12:g.145514852G>C	ExAC,gnomAD
SMAD1	Q15797	p.Gly82Ala	rs1244767218	missense variant	-	NC_000004.12:g.145514858G>C	gnomAD
SMAD1	Q15797	p.Tyr88Ser	rs1202355470	missense variant	-	NC_000004.12:g.145514876A>C	TOPMed
SMAD1	Q15797	p.Arg90His	rs1340868784	missense variant	-	NC_000004.12:g.145514882G>A	TOPMed
SMAD1	Q15797	p.Val91Leu	rs1274878726	missense variant	-	NC_000004.12:g.145514884G>C	TOPMed
SMAD1	Q15797	p.Val91Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145514885T>C	NCI-TCGA
SMAD1	Q15797	p.Trp92Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.145514888G>A	NCI-TCGA
SMAD1	Q15797	p.Trp92Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.145514889G>A	NCI-TCGA
SMAD1	Q15797	p.Arg93Cys	rs1260108423	missense variant	-	NC_000004.12:g.145514890C>T	gnomAD
SMAD1	Q15797	p.Asp96Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145514899G>A	NCI-TCGA
SMAD1	Q15797	p.His100Tyr	rs1190612353	missense variant	-	NC_000004.12:g.145514911C>T	gnomAD
SMAD1	Q15797	p.His101Asn	rs1444311642	missense variant	-	NC_000004.12:g.145514914C>A	gnomAD
SMAD1	Q15797	p.His101GlnAspLeuGlyProLeuLysSerTerValProUnk	rs759155927	stop gained	-	NC_000004.12:g.145514915_145514916insGGATCTTGGCCCCCTCAAGTCCTGAGTGCCT	ExAC
SMAD1	Q15797	p.His101Gln	rs1181944797	missense variant	-	NC_000004.12:g.145514916T>A	TOPMed,gnomAD
SMAD1	Q15797	p.His101Arg	COSM1427369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145514915A>G	NCI-TCGA Cosmic
SMAD1	Q15797	p.Glu102Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.145514917G>T	NCI-TCGA
SMAD1	Q15797	p.Cys108Tyr	rs755340141	missense variant	-	NC_000004.12:g.145514936G>A	ExAC,gnomAD
SMAD1	Q15797	p.Glu110Ala	rs151149022	missense variant	-	NC_000004.12:g.145514942A>C	ESP
SMAD1	Q15797	p.Glu110Gln	rs781477906	missense variant	-	NC_000004.12:g.145514941G>C	ExAC,gnomAD
SMAD1	Q15797	p.Gly114Ala	rs748527815	missense variant	-	NC_000004.12:g.145514954G>C	ExAC
SMAD1	Q15797	p.Ser115Cys	rs1368835528	missense variant	-	NC_000004.12:g.145514957C>G	TOPMed
SMAD1	Q15797	p.Lys116Arg	rs770267997	missense variant	-	NC_000004.12:g.145514960A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gln117His	rs749373920	missense variant	-	NC_000004.12:g.145514964G>T	ExAC,gnomAD
SMAD1	Q15797	p.Glu119Asp	rs1365256709	missense variant	-	NC_000004.12:g.145514970G>T	gnomAD
SMAD1	Q15797	p.Pro124His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145514984C>A	NCI-TCGA
SMAD1	Q15797	p.Lys128Asn	rs759778197	missense variant	-	NC_000004.12:g.145514997G>C	ExAC,gnomAD
SMAD1	Q15797	p.Lys128Glu	rs1169433650	missense variant	-	NC_000004.12:g.145514995A>G	TOPMed
SMAD1	Q15797	p.Arg129Lys	COSM1427370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145514999G>A	NCI-TCGA Cosmic
SMAD1	Q15797	p.Glu131Gly	rs1210509263	missense variant	-	NC_000004.12:g.145515005A>G	gnomAD
SMAD1	Q15797	p.Ser132Ile	rs1223655159	missense variant	-	NC_000004.12:g.145515008G>T	gnomAD
SMAD1	Q15797	p.Ser132Cys	rs776357140	missense variant	-	NC_000004.12:g.145515007A>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser132Gly	rs776357140	missense variant	-	NC_000004.12:g.145515007A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro133Leu	rs765138085	missense variant	-	NC_000004.12:g.145515011C>T	ExAC,gnomAD
SMAD1	Q15797	p.Pro133Ser	rs761639240	missense variant	-	NC_000004.12:g.145515010C>T	ExAC,gnomAD
SMAD1	Q15797	p.Pro137Ala	rs535199231	missense variant	-	NC_000004.12:g.145539812C>G	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val138Leu	rs371393906	missense variant	-	NC_000004.12:g.145539815G>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val138Leu	rs371393906	missense variant	-	NC_000004.12:g.145539815G>C	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val138Met	rs371393906	missense variant	-	NC_000004.12:g.145539815G>A	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Leu139Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145539818C>G	NCI-TCGA
SMAD1	Q15797	p.Val140Ile	rs1434190878	missense variant	-	NC_000004.12:g.145539821G>A	gnomAD
SMAD1	Q15797	p.Pro141Ser	rs769593299	missense variant	-	NC_000004.12:g.145539824C>T	ExAC,gnomAD
SMAD1	Q15797	p.Pro141Ala	rs769593299	missense variant	-	NC_000004.12:g.145539824C>G	ExAC,gnomAD
SMAD1	Q15797	p.Arg142Thr	rs1425989959	missense variant	-	NC_000004.12:g.145539828G>C	gnomAD
SMAD1	Q15797	p.Arg142Gly	rs762817927	missense variant	-	NC_000004.12:g.145539827A>G	ExAC,gnomAD
SMAD1	Q15797	p.His143Arg	rs1383731571	missense variant	-	NC_000004.12:g.145539831A>G	TOPMed
SMAD1	Q15797	p.Ser144Gly	COSM1051761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539833A>G	NCI-TCGA Cosmic
SMAD1	Q15797	p.Glu145Lys	COSM3600657	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539836G>A	NCI-TCGA Cosmic
SMAD1	Q15797	p.Tyr146Cys	rs1364163583	missense variant	-	NC_000004.12:g.145539840A>G	TOPMed
SMAD1	Q15797	p.Asn147Asp	rs118128857	missense variant	-	NC_000004.12:g.145539842A>G	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn147His	rs118128857	missense variant	-	NC_000004.12:g.145539842A>C	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gln155Arg	rs1347615676	missense variant	-	NC_000004.12:g.145539867A>G	TOPMed
SMAD1	Q15797	p.Arg157Cys	rs775993323	missense variant	-	NC_000004.12:g.145539872C>T	ExAC,gnomAD
SMAD1	Q15797	p.Arg157His	rs752342788	missense variant	-	NC_000004.12:g.145539873G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn158Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.145539873_145539874insT	NCI-TCGA
SMAD1	Q15797	p.Gly160Glu	rs1201607497	missense variant	-	NC_000004.12:g.145539882G>A	gnomAD
SMAD1	Q15797	p.Pro164Leu	rs1423413774	missense variant	-	NC_000004.12:g.145539894C>T	gnomAD
SMAD1	Q15797	p.His165Gln	rs756441656	missense variant	-	NC_000004.12:g.145539898C>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.His165Arg	rs1247999691	missense variant	-	NC_000004.12:g.145539897A>G	gnomAD
SMAD1	Q15797	p.Asn169Asp	rs1386781473	missense variant	-	NC_000004.12:g.145539908A>G	TOPMed
SMAD1	Q15797	p.Ala170Thr	COSM4122563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539911G>A	NCI-TCGA Cosmic
SMAD1	Q15797	p.Thr171Ile	rs1431189199	missense variant	-	NC_000004.12:g.145539915C>T	gnomAD
SMAD1	Q15797	p.Pro173Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145539921C>T	NCI-TCGA
SMAD1	Q15797	p.Gln177Arg	rs745997713	missense variant	-	NC_000004.12:g.145539933A>G	ExAC,gnomAD
SMAD1	Q15797	p.Asn180Ser	rs758506902	missense variant	-	NC_000004.12:g.145539942A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser181Arg	rs1367694929	missense variant	-	NC_000004.12:g.145539946C>G	TOPMed,gnomAD
SMAD1	Q15797	p.Pro183Thr	rs1229406859	missense variant	-	NC_000004.12:g.145539950C>A	gnomAD
SMAD1	Q15797	p.Pro183Leu	rs780172594	missense variant	-	NC_000004.12:g.145539951C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro185Ser	rs574850101	missense variant	-	NC_000004.12:g.145539956C>T	1000Genomes,ExAC,gnomAD
SMAD1	Q15797	p.His186Gln	rs749074021	missense variant	-	NC_000004.12:g.145539961C>G	ExAC,gnomAD
SMAD1	Q15797	p.His186Tyr	rs773114294	missense variant	-	NC_000004.12:g.145539959C>T	ExAC,gnomAD
SMAD1	Q15797	p.Asn189Asp	rs1055612175	missense variant	-	NC_000004.12:g.145539968A>G	TOPMed,gnomAD
SMAD1	Q15797	p.Asn189Ser	rs770895114	missense variant	-	NC_000004.12:g.145539969A>G	ExAC,TOPMed
SMAD1	Q15797	p.Asn189Tyr	rs1055612175	missense variant	-	NC_000004.12:g.145539968A>T	TOPMed,gnomAD
SMAD1	Q15797	p.Ser190Arg	rs1294280347	missense variant	-	NC_000004.12:g.145539973C>G	TOPMed
SMAD1	Q15797	p.Ser190Asn	rs1451013268	missense variant	-	NC_000004.12:g.145539972G>A	gnomAD
SMAD1	Q15797	p.Ser190Thr	COSM732485	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539972G>C	NCI-TCGA Cosmic
SMAD1	Q15797	p.Pro193Ser	rs774249301	missense variant	-	NC_000004.12:g.145539980C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn194His	rs1384430349	missense variant	-	NC_000004.12:g.145539983A>C	gnomAD
SMAD1	Q15797	p.Asn194Asp	rs1384430349	missense variant	-	NC_000004.12:g.145539983A>G	gnomAD
SMAD1	Q15797	p.Ser195Pro	rs1341231187	missense variant	-	NC_000004.12:g.145539986T>C	TOPMed
SMAD1	Q15797	p.Pro196Ala	rs1471708147	missense variant	-	NC_000004.12:g.145539989C>G	gnomAD
SMAD1	Q15797	p.Pro196Leu	rs1164715949	missense variant	-	NC_000004.12:g.145539990C>T	gnomAD
SMAD1	Q15797	p.Gly197Val	COSM1427371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539993G>T	NCI-TCGA Cosmic
SMAD1	Q15797	p.Ser199Asn	rs537765824	missense variant	-	NC_000004.12:g.145539999G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro204Ala	rs973432572	missense variant	-	NC_000004.12:g.145540013C>G	gnomAD
SMAD1	Q15797	p.Pro207Ser	rs767011109	missense variant	-	NC_000004.12:g.145540022C>T	ExAC,gnomAD
SMAD1	Q15797	p.Thr208Ile	rs775020524	missense variant	-	NC_000004.12:g.145540026C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asp211His	rs1314660957	missense variant	-	NC_000004.12:g.145540034G>C	gnomAD
SMAD1	Q15797	p.Pro212Ser	rs993095324	missense variant	-	NC_000004.12:g.145540037C>T	TOPMed
SMAD1	Q15797	p.Gly213Glu	rs1338883323	missense variant	-	NC_000004.12:g.145540041G>A	gnomAD
SMAD1	Q15797	p.Ser214Gly	rs763649399	missense variant	-	NC_000004.12:g.145540043A>G	ExAC,gnomAD
SMAD1	Q15797	p.Phe216Leu	rs762249726	missense variant	-	NC_000004.12:g.145540049T>C	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gln217Ter	COSM3600658	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.145540052C>T	NCI-TCGA Cosmic
SMAD1	Q15797	p.Met218Ile	rs765870228	missense variant	-	NC_000004.12:g.145540057G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met218Ile	rs765870228	missense variant	-	NC_000004.12:g.145540057G>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala220Gly	rs754989497	missense variant	-	NC_000004.12:g.145542582C>G	ExAC,gnomAD
SMAD1	Q15797	p.Asp221Gly	COSM6166350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145542585A>G	NCI-TCGA Cosmic
SMAD1	Q15797	p.Thr222Met	rs146960039	missense variant	-	NC_000004.12:g.145542588C>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro224Ser	rs1385105737	missense variant	-	NC_000004.12:g.145542593C>T	gnomAD
SMAD1	Q15797	p.Pro224Leu	rs1048829612	missense variant	-	NC_000004.12:g.145542594C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Pro224Arg	rs1048829612	missense variant	-	NC_000004.12:g.145542594C>G	TOPMed,gnomAD
SMAD1	Q15797	p.Pro225Leu	rs778740344	missense variant	-	NC_000004.12:g.145542597C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro225Ser	rs1375990946	missense variant	-	NC_000004.12:g.145542596C>T	gnomAD
SMAD1	Q15797	p.Ala226Val	rs745647196	missense variant	-	NC_000004.12:g.145542600C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro229Ser	rs1395975712	missense variant	-	NC_000004.12:g.145542608C>T	gnomAD
SMAD1	Q15797	p.Pro229Leu	rs953331810	missense variant	-	NC_000004.12:g.145542609C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Pro230His	rs1310181065	missense variant	-	NC_000004.12:g.145542612C>A	gnomAD
SMAD1	Q15797	p.Pro230Ser	rs1354619028	missense variant	-	NC_000004.12:g.145542611C>T	TOPMed
SMAD1	Q15797	p.Asp232His	COSM6166349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145542617G>C	NCI-TCGA Cosmic
SMAD1	Q15797	p.Met234Val	rs772087791	missense variant	-	NC_000004.12:g.145542623A>G	ExAC,gnomAD
SMAD1	Q15797	p.Met234Ile	rs1404877778	missense variant	-	NC_000004.12:g.145542625G>C	gnomAD
SMAD1	Q15797	p.Gln236Arg	rs746555376	missense variant	-	NC_000004.12:g.145542630A>G	ExAC,gnomAD
SMAD1	Q15797	p.Ser239Phe	rs1256260063	missense variant	-	NC_000004.12:g.145542639C>T	gnomAD
SMAD1	Q15797	p.Gln240Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.145542641C>T	NCI-TCGA
SMAD1	Q15797	p.Pro241Gln	rs768015552	missense variant	-	NC_000004.12:g.145542645C>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro241Arg	rs768015552	missense variant	-	NC_000004.12:g.145542645C>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro241Leu	rs768015552	missense variant	-	NC_000004.12:g.145542645C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met242Arg	rs1190518044	missense variant	-	NC_000004.12:g.145542648T>G	gnomAD
SMAD1	Q15797	p.Met242Val	rs769553939	missense variant	-	NC_000004.12:g.145542647A>G	ExAC,gnomAD
SMAD1	Q15797	p.Asp243Asn	rs773776278	missense variant	-	NC_000004.12:g.145542650G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asp243Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145542651A>G	NCI-TCGA
SMAD1	Q15797	p.Thr244Ser	rs1434999063	missense variant	-	NC_000004.12:g.145542653A>T	gnomAD
SMAD1	Q15797	p.Thr244Ile	rs1199617673	missense variant	-	NC_000004.12:g.145542654C>T	gnomAD
SMAD1	Q15797	p.Thr244Ala	rs1434999063	missense variant	-	NC_000004.12:g.145542653A>G	gnomAD
SMAD1	Q15797	p.Met246Arg	rs1422525451	missense variant	-	NC_000004.12:g.145542660T>G	TOPMed
SMAD1	Q15797	p.Met246Ile	rs563550038	missense variant	-	NC_000004.12:g.145542661G>C	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met246Leu	rs147602934	missense variant	-	NC_000004.12:g.145542659A>C	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met246Ile	rs563550038	missense variant	-	NC_000004.12:g.145542661G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met246Leu	rs147602934	missense variant	-	NC_000004.12:g.145542659A>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met247Leu	rs1170950479	missense variant	-	NC_000004.12:g.145542662A>T	gnomAD
SMAD1	Q15797	p.Met247Thr	rs1163799095	missense variant	-	NC_000004.12:g.145542663T>C	TOPMed
SMAD1	Q15797	p.Ala248Thr	rs376803119	missense variant	-	NC_000004.12:g.145542665G>A	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala248Val	rs576994811	missense variant	-	NC_000004.12:g.145542666C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro249Arg	rs373778654	missense variant	-	NC_000004.12:g.145542669C>G	ESP,ExAC,gnomAD
SMAD1	Q15797	p.Pro250Leu	rs750281442	missense variant	-	NC_000004.12:g.145542672C>T	ExAC,gnomAD
SMAD1	Q15797	p.Ser253Pro	rs1276554181	missense variant	-	NC_000004.12:g.145542680T>C	gnomAD
SMAD1	Q15797	p.Ile255Val	rs1342577469	missense variant	-	NC_000004.12:g.145542686A>G	gnomAD
SMAD1	Q15797	p.Arg257Thr	rs1263640239	missense variant	-	NC_000004.12:g.145542693G>C	gnomAD
SMAD1	Q15797	p.Arg257Lys	COSM586152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145542693G>A	NCI-TCGA Cosmic
SMAD1	Q15797	p.Gly258Arg	rs1489391654	missense variant	-	NC_000004.12:g.145542695G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Asp259Gly	rs755635795	missense variant	-	NC_000004.12:g.145546703A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asp259Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145542698G>A	NCI-TCGA
SMAD1	Q15797	p.Val260Gly	rs199712561	missense variant	-	NC_000004.12:g.145546706T>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala262Thr	rs959079905	missense variant	-	NC_000004.12:g.145546711G>A	TOPMed
SMAD1	Q15797	p.Ala262Val	rs1321891857	missense variant	-	NC_000004.12:g.145546712C>T	gnomAD
SMAD1	Q15797	p.Val263Phe	rs1191031214	missense variant	-	NC_000004.12:g.145546714G>T	gnomAD
SMAD1	Q15797	p.Ala264Ser	rs1446834454	missense variant	-	NC_000004.12:g.145546717G>T	TOPMed,gnomAD
SMAD1	Q15797	p.Ala264Asp	rs1300910971	missense variant	-	NC_000004.12:g.145546718C>A	gnomAD
SMAD1	Q15797	p.Ala264Thr	rs1446834454	missense variant	-	NC_000004.12:g.145546717G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Tyr265Phe	rs1198263549	missense variant	-	NC_000004.12:g.145546721A>T	TOPMed
SMAD1	Q15797	p.Glu266Gly	rs1381047432	missense variant	-	NC_000004.12:g.145546724A>G	gnomAD
SMAD1	Q15797	p.Glu266Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145546723G>C	NCI-TCGA
SMAD1	Q15797	p.Glu267Gln	rs771337852	missense variant	-	NC_000004.12:g.145546726G>C	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Glu267Val	rs1287682168	missense variant	-	NC_000004.12:g.145546727A>T	gnomAD
SMAD1	Q15797	p.Pro268Gln	rs560551988	missense variant	-	NC_000004.12:g.145546730C>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Lys269Glu	rs772617220	missense variant	-	NC_000004.12:g.145546732A>G	ExAC,gnomAD
SMAD1	Q15797	p.His270Arg	rs1311897697	missense variant	-	NC_000004.12:g.145546736A>G	gnomAD
SMAD1	Q15797	p.His270Asp	rs1246770074	missense variant	-	NC_000004.12:g.145546735C>G	TOPMed,gnomAD
SMAD1	Q15797	p.Ser273Cys	rs1239630304	missense variant	-	NC_000004.12:g.145546745C>G	gnomAD
SMAD1	Q15797	p.Ile274Val	rs775680669	missense variant	-	NC_000004.12:g.145546747A>G	TOPMed
SMAD1	Q15797	p.Val275Ala	rs1181856908	missense variant	-	NC_000004.12:g.145546751T>C	TOPMed,gnomAD
SMAD1	Q15797	p.Val275Gly	rs1181856908	missense variant	-	NC_000004.12:g.145546751T>G	TOPMed,gnomAD
SMAD1	Q15797	p.Asn280Ser	COSM4122564	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145546766A>G	NCI-TCGA Cosmic
SMAD1	Q15797	p.Asn281Ser	rs61748163	missense variant	-	NC_000004.12:g.145546769A>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Arg282Cys	rs768660491	missense variant	-	NC_000004.12:g.145546771C>T	ExAC,gnomAD
SMAD1	Q15797	p.Arg282Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145546771C>A	NCI-TCGA
SMAD1	Q15797	p.Ala286Val	COSM1427375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145546784C>T	NCI-TCGA Cosmic
SMAD1	Q15797	p.His288Arg	rs143636122	missense variant	-	NC_000004.12:g.145546790A>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala289Thr	rs1415173599	missense variant	-	NC_000004.12:g.145546792G>A	gnomAD
SMAD1	Q15797	p.Ser291Pro	rs1401631127	missense variant	-	NC_000004.12:g.145546798T>C	TOPMed
SMAD1	Q15797	p.Ser291Thr	rs1401631127	missense variant	-	NC_000004.12:g.145546798T>A	TOPMed
SMAD1	Q15797	p.Ser291Cys	rs376805776	missense variant	-	NC_000004.12:g.145546799C>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser291Phe	rs376805776	missense variant	-	NC_000004.12:g.145546799C>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asp297Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145546816G>A	NCI-TCGA
SMAD1	Q15797	p.Pro302Ser	COSM3600659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145546831C>T	NCI-TCGA Cosmic
SMAD1	Q15797	p.Lys306Arg	rs1173891246	missense variant	-	NC_000004.12:g.145546844A>G	TOPMed,gnomAD
SMAD1	Q15797	p.Lys306Asn	COSM1485713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145546845G>C	NCI-TCGA Cosmic
SMAD1	Q15797	p.Asn307Lys	rs375411684	missense variant	-	NC_000004.12:g.145546848C>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Leu314Phe	rs777087139	missense variant	-	NC_000004.12:g.145546867C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn318Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145546879A>G	NCI-TCGA
SMAD1	Q15797	p.Arg319Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145546883G>A	NCI-TCGA
SMAD1	Q15797	p.Asn320ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.145546883_145546884insTGTT	NCI-TCGA
SMAD1	Q15797	p.Thr322Ile	rs1204905977	missense variant	-	NC_000004.12:g.145546892C>T	gnomAD
SMAD1	Q15797	p.His335Tyr	rs960797999	missense variant	-	NC_000004.12:g.145553789C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Leu336Val	rs199965141	missense variant	-	NC_000004.12:g.145553792C>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val339Gly	rs1168211211	missense variant	-	NC_000004.12:g.145553802T>G	gnomAD
SMAD1	Q15797	p.Val339Phe	rs1451132964	missense variant	-	NC_000004.12:g.145553801G>T	gnomAD
SMAD1	Q15797	p.Ala345Val	COSM3428206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145553820C>T	NCI-TCGA Cosmic
SMAD1	Q15797	p.Glu346Lys	rs750014334	missense variant	-	NC_000004.12:g.145553822G>A	ExAC,gnomAD
SMAD1	Q15797	p.Ser349Gly	rs1325661130	missense variant	-	NC_000004.12:g.145553831A>G	gnomAD
SMAD1	Q15797	p.Ser349LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.145553830_145553831insA	NCI-TCGA
SMAD1	Q15797	p.Ser351Gly	rs758779528	missense variant	-	NC_000004.12:g.145553837A>G	ExAC,gnomAD
SMAD1	Q15797	p.Val355Met	rs1295720261	missense variant	-	NC_000004.12:g.145553849G>A	gnomAD
SMAD1	Q15797	p.Gln356Ter	COSM3600660	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.145553852C>T	NCI-TCGA Cosmic
SMAD1	Q15797	p.Tyr362Cys	rs200152891	missense variant	-	NC_000004.12:g.145553871A>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.His363Arg	rs748195491	missense variant	-	NC_000004.12:g.145553874A>G	ExAC,gnomAD
SMAD1	Q15797	p.His364Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145553876C>G	NCI-TCGA
SMAD1	Q15797	p.Gly365Glu	rs1230494067	missense variant	-	NC_000004.12:g.145553880G>A	gnomAD
SMAD1	Q15797	p.His367Tyr	rs769874336	missense variant	-	NC_000004.12:g.145553885C>T	ExAC
SMAD1	Q15797	p.Thr370Ala	rs142898460	missense variant	-	NC_000004.12:g.145553894A>G	1000Genomes,ExAC,gnomAD
SMAD1	Q15797	p.Pro375Ser	rs1247730282	missense variant	-	NC_000004.12:g.145553909C>T	TOPMed
SMAD1	Q15797	p.Pro375Arg	rs771262658	missense variant	-	NC_000004.12:g.145553910C>G	ExAC,gnomAD
SMAD1	Q15797	p.Pro375His	rs771262658	missense variant	-	NC_000004.12:g.145553910C>A	ExAC,gnomAD
SMAD1	Q15797	p.Ser376Asn	rs775491520	missense variant	-	NC_000004.12:g.145553913G>A	ExAC,gnomAD
SMAD1	Q15797	p.Cys378Tyr	rs1193701780	missense variant	-	NC_000004.12:g.145553919G>A	gnomAD
SMAD1	Q15797	p.Ser379Gly	rs1367670594	missense variant	-	NC_000004.12:g.145553921A>G	gnomAD
SMAD1	Q15797	p.Ser379Asn	rs772196472	missense variant	-	NC_000004.12:g.145553922G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Ile382Met	COSM3993487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145553932T>G	NCI-TCGA Cosmic
SMAD1	Q15797	p.Ile382Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145553931T>A	NCI-TCGA
SMAD1	Q15797	p.Phe383Val	rs1164957793	missense variant	-	NC_000004.12:g.145553933T>G	TOPMed,gnomAD
SMAD1	Q15797	p.Phe383LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.145553931T>-	NCI-TCGA
SMAD1	Q15797	p.Glu387Gln	rs1418440746	missense variant	-	NC_000004.12:g.145553945G>C	gnomAD
SMAD1	Q15797	p.Ala389Gly	rs763962403	missense variant	-	NC_000004.12:g.145553952C>G	ExAC,gnomAD
SMAD1	Q15797	p.Ala393Val	rs776592095	missense variant	-	NC_000004.12:g.145553964C>T	ExAC
SMAD1	Q15797	p.Gln394Glu	rs1266724381	missense variant	-	NC_000004.12:g.145553966C>G	gnomAD
SMAD1	Q15797	p.Asn397Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145553976A>G	NCI-TCGA
SMAD1	Q15797	p.His398Tyr	rs1339052741	missense variant	-	NC_000004.12:g.145553978C>T	gnomAD
SMAD1	Q15797	p.Thr402Ile	rs922253917	missense variant	-	NC_000004.12:g.145553991C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Thr407Ile	rs758115726	missense variant	-	NC_000004.12:g.145554006C>T	ExAC,gnomAD
SMAD1	Q15797	p.Met409Thr	rs765987226	missense variant	-	NC_000004.12:g.145554012T>C	ExAC,gnomAD
SMAD1	Q15797	p.Met409Val	rs1265677985	missense variant	-	NC_000004.12:g.145554011A>G	gnomAD
SMAD1	Q15797	p.Ile412Val	rs549602822	missense variant	-	NC_000004.12:g.145554020A>G	1000Genomes,ExAC,gnomAD
SMAD1	Q15797	p.Arg413Cys	COSM1051764	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145554023C>T	NCI-TCGA Cosmic
SMAD1	Q15797	p.Met414Val	rs781576677	missense variant	-	NC_000004.12:g.145554026A>G	ExAC,gnomAD
SMAD1	Q15797	p.Met414Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145554028G>C	NCI-TCGA
SMAD1	Q15797	p.Phe416Leu	rs1361044988	missense variant	-	NC_000004.12:g.145554034T>G	TOPMed
SMAD1	Q15797	p.Phe416Leu	rs748617717	missense variant	-	NC_000004.12:g.145554032T>C	ExAC,gnomAD
SMAD1	Q15797	p.Lys418Arg	rs756161358	missense variant	-	NC_000004.12:g.145554039A>G	ExAC,gnomAD
SMAD1	Q15797	p.Gly421Arg	rs1341223587	missense variant	-	NC_000004.12:g.145557797G>C	gnomAD
SMAD1	Q15797	p.Val429Ile	rs757373765	missense variant	-	NC_000004.12:g.145557821G>A	ExAC,gnomAD
SMAD1	Q15797	p.Pro433Thr	rs1043517752	missense variant	-	NC_000004.12:g.145557833C>A	TOPMed
SMAD1	Q15797	p.Ile436Leu	rs902463763	missense variant	-	NC_000004.12:g.145557842A>C	TOPMed
SMAD1	Q15797	p.Ile438Val	COSM5695169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145557848A>G	NCI-TCGA Cosmic
SMAD1	Q15797	p.His439Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145557852A>G	NCI-TCGA
SMAD1	Q15797	p.Leu440Val	COSM732484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145557854C>G	NCI-TCGA Cosmic
SMAD1	Q15797	p.His441Tyr	rs746045655	missense variant	-	NC_000004.12:g.145557857C>T	ExAC,TOPMed
SMAD1	Q15797	p.Gly442Asp	rs1455775916	missense variant	-	NC_000004.12:g.145557861G>A	gnomAD
SMAD1	Q15797	p.Gly442Ser	rs866688396	missense variant	-	NC_000004.12:g.145557860G>A	TOPMed
SMAD1	Q15797	p.Gly442Cys	COSM6099202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145557860G>T	NCI-TCGA Cosmic
SMAD1	Q15797	p.Gln445Leu	rs1389741545	missense variant	-	NC_000004.12:g.145557870A>T	TOPMed,gnomAD
SMAD1	Q15797	p.Asp448Glu	rs769775136	missense variant	-	NC_000004.12:g.145557880T>G	ExAC,gnomAD
SMAD1	Q15797	p.Asp448Gly	rs747867801	missense variant	-	NC_000004.12:g.145557879A>G	ExAC,gnomAD
SMAD1	Q15797	p.Lys449Gln	rs1457839327	missense variant	-	NC_000004.12:g.145557881A>C	gnomAD
SMAD1	Q15797	p.Leu451Ile	rs1249030519	missense variant	-	NC_000004.12:g.145557887C>A	TOPMed
SMAD1	Q15797	p.Asn459Asp	rs770357649	missense variant	-	NC_000004.12:g.145557911A>G	ExAC,gnomAD
SMAD1	Q15797	p.Ile461Val	rs773885137	missense variant	-	NC_000004.12:g.145557917A>G	ExAC,gnomAD
SMAD1	Q15797	p.Val464Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145557926G>T	NCI-TCGA
SMAD1	Q15797	p.Ser465Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.145557930C>T	NCI-TCGA
SMAD1	Q15797	p.Asn2Ser	rs1466114055	missense variant	-	NC_000004.12:g.145514618A>G	TOPMed
SMAD1	Q15797	p.Val3Ala	RCV000054384	missense variant	Variant of unknown significance	NC_000004.12:g.145514621T>C	ClinVar
SMAD1	Q15797	p.Val3Ala	RCV000488453	missense variant	Primary pulmonary hypertension (PPH1)	NC_000004.12:g.145514621T>C	ClinVar
SMAD1	Q15797	p.Val3Ala	rs587777018	missense variant	-	NC_000004.12:g.145514621T>C	UniProt,dbSNP
SMAD1	Q15797	p.Val3Ala	VAR_066869	missense variant	-	NC_000004.12:g.145514621T>C	UniProt
SMAD1	Q15797	p.Val3Ala	rs587777018	missense variant	-	NC_000004.12:g.145514621T>C	-
SMAD1	Q15797	p.Leu6Val	rs1263555564	missense variant	-	NC_000004.12:g.145514629T>G	TOPMed
SMAD1	Q15797	p.Phe9Leu	rs1483244170	missense variant	-	NC_000004.12:g.145514640T>A	gnomAD
SMAD1	Q15797	p.Ala13Thr	rs1198375823	missense variant	-	NC_000004.12:g.145514650G>A	gnomAD
SMAD1	Q15797	p.Ala13Val	rs1427144576	missense variant	-	NC_000004.12:g.145514651C>T	gnomAD
SMAD1	Q15797	p.Val14Met	rs764152098	missense variant	-	NC_000004.12:g.145514653G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Lys15Asn	rs1314342936	missense variant	-	NC_000004.12:g.145514658G>T	TOPMed
SMAD1	Q15797	p.Leu18Ile	rs753790034	missense variant	-	NC_000004.12:g.145514665C>A	ExAC,gnomAD
SMAD1	Q15797	p.Gly23Val	rs778232288	missense variant	-	NC_000004.12:g.145514681G>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gly23Ala	rs778232288	missense variant	-	NC_000004.12:g.145514681G>C	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala36Thr	rs1288555676	missense variant	-	NC_000004.12:g.145514719G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Lys42Arg	rs1306391615	missense variant	-	NC_000004.12:g.145514738A>G	gnomAD
SMAD1	Q15797	p.Met48Val	rs1276376128	missense variant	-	NC_000004.12:g.145514755A>G	gnomAD
SMAD1	Q15797	p.Ala54Val	rs1166928530	missense variant	-	NC_000004.12:g.145514774C>T	TOPMed
SMAD1	Q15797	p.Cys57Ser	rs1266428811	missense variant	-	NC_000004.12:g.145514782T>A	gnomAD
SMAD1	Q15797	p.Cys57Phe	rs1447739675	missense variant	-	NC_000004.12:g.145514783G>T	TOPMed
SMAD1	Q15797	p.Pro58Thr	rs1489454560	missense variant	-	NC_000004.12:g.145514785C>A	gnomAD
SMAD1	Q15797	p.Pro61Leu	rs370506404	missense variant	-	NC_000004.12:g.145514795C>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro61Ser	rs748536621	missense variant	-	NC_000004.12:g.145514794C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Arg69Cys	rs1391030652	missense variant	-	NC_000004.12:g.145514818C>T	gnomAD
SMAD1	Q15797	p.Ser70Pro	rs1162136731	missense variant	-	NC_000004.12:g.145514821T>C	gnomAD
SMAD1	Q15797	p.Leu71Val	rs774689895	missense variant	-	NC_000004.12:g.145514824C>G	ExAC,gnomAD
SMAD1	Q15797	p.Arg80Pro	rs765216463	missense variant	-	NC_000004.12:g.145514852G>C	ExAC,gnomAD
SMAD1	Q15797	p.Gly82Ala	rs1244767218	missense variant	-	NC_000004.12:g.145514858G>C	gnomAD
SMAD1	Q15797	p.Tyr88Ser	rs1202355470	missense variant	-	NC_000004.12:g.145514876A>C	TOPMed
SMAD1	Q15797	p.Arg90His	rs1340868784	missense variant	-	NC_000004.12:g.145514882G>A	TOPMed
SMAD1	Q15797	p.Val91Leu	rs1274878726	missense variant	-	NC_000004.12:g.145514884G>C	TOPMed
SMAD1	Q15797	p.Arg93Cys	rs1260108423	missense variant	-	NC_000004.12:g.145514890C>T	gnomAD
SMAD1	Q15797	p.His100Tyr	rs1190612353	missense variant	-	NC_000004.12:g.145514911C>T	gnomAD
SMAD1	Q15797	p.His101Asn	rs1444311642	missense variant	-	NC_000004.12:g.145514914C>A	gnomAD
SMAD1	Q15797	p.His101GlnAspLeuGlyProLeuLysSerTerValProUnk	rs759155927	stop gained	-	NC_000004.12:g.145514915_145514916insGGATCTTGGCCCCCTCAAGTCCTGAGTGCCT	ExAC
SMAD1	Q15797	p.His101Gln	rs1181944797	missense variant	-	NC_000004.12:g.145514916T>A	TOPMed,gnomAD
SMAD1	Q15797	p.Cys108Tyr	rs755340141	missense variant	-	NC_000004.12:g.145514936G>A	ExAC,gnomAD
SMAD1	Q15797	p.Glu110Ala	rs151149022	missense variant	-	NC_000004.12:g.145514942A>C	ESP
SMAD1	Q15797	p.Glu110Gln	rs781477906	missense variant	-	NC_000004.12:g.145514941G>C	ExAC,gnomAD
SMAD1	Q15797	p.Gly114Ala	rs748527815	missense variant	-	NC_000004.12:g.145514954G>C	ExAC
SMAD1	Q15797	p.Ser115Cys	rs1368835528	missense variant	-	NC_000004.12:g.145514957C>G	TOPMed
SMAD1	Q15797	p.Lys116Arg	rs770267997	missense variant	-	NC_000004.12:g.145514960A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gln117His	rs749373920	missense variant	-	NC_000004.12:g.145514964G>T	ExAC,gnomAD
SMAD1	Q15797	p.Glu119Asp	rs1365256709	missense variant	-	NC_000004.12:g.145514970G>T	gnomAD
SMAD1	Q15797	p.Lys128Asn	rs759778197	missense variant	-	NC_000004.12:g.145514997G>C	ExAC,gnomAD
SMAD1	Q15797	p.Lys128Glu	rs1169433650	missense variant	-	NC_000004.12:g.145514995A>G	TOPMed
SMAD1	Q15797	p.Glu131Gly	rs1210509263	missense variant	-	NC_000004.12:g.145515005A>G	gnomAD
SMAD1	Q15797	p.Ser132Gly	rs776357140	missense variant	-	NC_000004.12:g.145515007A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser132Ile	rs1223655159	missense variant	-	NC_000004.12:g.145515008G>T	gnomAD
SMAD1	Q15797	p.Ser132Cys	rs776357140	missense variant	-	NC_000004.12:g.145515007A>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro133Leu	rs765138085	missense variant	-	NC_000004.12:g.145515011C>T	ExAC,gnomAD
SMAD1	Q15797	p.Pro133Ser	rs761639240	missense variant	-	NC_000004.12:g.145515010C>T	ExAC,gnomAD
SMAD1	Q15797	p.Pro137Ala	rs535199231	missense variant	-	NC_000004.12:g.145539812C>G	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val138Leu	rs371393906	missense variant	-	NC_000004.12:g.145539815G>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val138Leu	rs371393906	missense variant	-	NC_000004.12:g.145539815G>C	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val138Met	rs371393906	missense variant	-	NC_000004.12:g.145539815G>A	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val140Ile	rs1434190878	missense variant	-	NC_000004.12:g.145539821G>A	gnomAD
SMAD1	Q15797	p.Pro141Ser	rs769593299	missense variant	-	NC_000004.12:g.145539824C>T	ExAC,gnomAD
SMAD1	Q15797	p.Pro141Ala	rs769593299	missense variant	-	NC_000004.12:g.145539824C>G	ExAC,gnomAD
SMAD1	Q15797	p.Arg142Thr	rs1425989959	missense variant	-	NC_000004.12:g.145539828G>C	gnomAD
SMAD1	Q15797	p.Arg142Gly	rs762817927	missense variant	-	NC_000004.12:g.145539827A>G	ExAC,gnomAD
SMAD1	Q15797	p.His143Arg	rs1383731571	missense variant	-	NC_000004.12:g.145539831A>G	TOPMed
SMAD1	Q15797	p.Tyr146Cys	rs1364163583	missense variant	-	NC_000004.12:g.145539840A>G	TOPMed
SMAD1	Q15797	p.Asn147Asp	rs118128857	missense variant	-	NC_000004.12:g.145539842A>G	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn147His	rs118128857	missense variant	-	NC_000004.12:g.145539842A>C	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gln155Arg	rs1347615676	missense variant	-	NC_000004.12:g.145539867A>G	TOPMed
SMAD1	Q15797	p.Arg157His	rs752342788	missense variant	-	NC_000004.12:g.145539873G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Arg157Cys	rs775993323	missense variant	-	NC_000004.12:g.145539872C>T	ExAC,gnomAD
SMAD1	Q15797	p.Gly160Glu	rs1201607497	missense variant	-	NC_000004.12:g.145539882G>A	gnomAD
SMAD1	Q15797	p.Pro164Leu	rs1423413774	missense variant	-	NC_000004.12:g.145539894C>T	gnomAD
SMAD1	Q15797	p.His165Arg	rs1247999691	missense variant	-	NC_000004.12:g.145539897A>G	gnomAD
SMAD1	Q15797	p.His165Gln	rs756441656	missense variant	-	NC_000004.12:g.145539898C>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn169Asp	rs1386781473	missense variant	-	NC_000004.12:g.145539908A>G	TOPMed
SMAD1	Q15797	p.Thr171Ile	rs1431189199	missense variant	-	NC_000004.12:g.145539915C>T	gnomAD
SMAD1	Q15797	p.Gln177Arg	rs745997713	missense variant	-	NC_000004.12:g.145539933A>G	ExAC,gnomAD
SMAD1	Q15797	p.Asn180Ser	rs758506902	missense variant	-	NC_000004.12:g.145539942A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser181Arg	rs1367694929	missense variant	-	NC_000004.12:g.145539946C>G	TOPMed,gnomAD
SMAD1	Q15797	p.Pro183Leu	rs780172594	missense variant	-	NC_000004.12:g.145539951C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro183Thr	rs1229406859	missense variant	-	NC_000004.12:g.145539950C>A	gnomAD
SMAD1	Q15797	p.Pro185Ser	rs574850101	missense variant	-	NC_000004.12:g.145539956C>T	1000Genomes,ExAC,gnomAD
SMAD1	Q15797	p.His186Gln	rs749074021	missense variant	-	NC_000004.12:g.145539961C>G	ExAC,gnomAD
SMAD1	Q15797	p.His186Tyr	rs773114294	missense variant	-	NC_000004.12:g.145539959C>T	ExAC,gnomAD
SMAD1	Q15797	p.Asn189Ser	rs770895114	missense variant	-	NC_000004.12:g.145539969A>G	ExAC,TOPMed
SMAD1	Q15797	p.Asn189Asp	rs1055612175	missense variant	-	NC_000004.12:g.145539968A>G	TOPMed,gnomAD
SMAD1	Q15797	p.Asn189Tyr	rs1055612175	missense variant	-	NC_000004.12:g.145539968A>T	TOPMed,gnomAD
SMAD1	Q15797	p.Ser190Arg	rs1294280347	missense variant	-	NC_000004.12:g.145539973C>G	TOPMed
SMAD1	Q15797	p.Ser190Asn	rs1451013268	missense variant	-	NC_000004.12:g.145539972G>A	gnomAD
SMAD1	Q15797	p.Pro193Ser	rs774249301	missense variant	-	NC_000004.12:g.145539980C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn194His	rs1384430349	missense variant	-	NC_000004.12:g.145539983A>C	gnomAD
SMAD1	Q15797	p.Asn194Asp	rs1384430349	missense variant	-	NC_000004.12:g.145539983A>G	gnomAD
SMAD1	Q15797	p.Ser195Pro	rs1341231187	missense variant	-	NC_000004.12:g.145539986T>C	TOPMed
SMAD1	Q15797	p.Pro196Ala	rs1471708147	missense variant	-	NC_000004.12:g.145539989C>G	gnomAD
SMAD1	Q15797	p.Pro196Leu	rs1164715949	missense variant	-	NC_000004.12:g.145539990C>T	gnomAD
SMAD1	Q15797	p.Ser199Asn	rs537765824	missense variant	-	NC_000004.12:g.145539999G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro204Ala	rs973432572	missense variant	-	NC_000004.12:g.145540013C>G	gnomAD
SMAD1	Q15797	p.Pro207Ser	rs767011109	missense variant	-	NC_000004.12:g.145540022C>T	ExAC,gnomAD
SMAD1	Q15797	p.Thr208Ile	rs775020524	missense variant	-	NC_000004.12:g.145540026C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asp211His	rs1314660957	missense variant	-	NC_000004.12:g.145540034G>C	gnomAD
SMAD1	Q15797	p.Pro212Ser	rs993095324	missense variant	-	NC_000004.12:g.145540037C>T	TOPMed
SMAD1	Q15797	p.Gly213Glu	rs1338883323	missense variant	-	NC_000004.12:g.145540041G>A	gnomAD
SMAD1	Q15797	p.Ser214Gly	rs763649399	missense variant	-	NC_000004.12:g.145540043A>G	ExAC,gnomAD
SMAD1	Q15797	p.Phe216Leu	rs762249726	missense variant	-	NC_000004.12:g.145540049T>C	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met218Ile	rs765870228	missense variant	-	NC_000004.12:g.145540057G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met218Ile	rs765870228	missense variant	-	NC_000004.12:g.145540057G>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala220Gly	rs754989497	missense variant	-	NC_000004.12:g.145542582C>G	ExAC,gnomAD
SMAD1	Q15797	p.Thr222Met	rs146960039	missense variant	-	NC_000004.12:g.145542588C>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro224Ser	rs1385105737	missense variant	-	NC_000004.12:g.145542593C>T	gnomAD
SMAD1	Q15797	p.Pro224Leu	rs1048829612	missense variant	-	NC_000004.12:g.145542594C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Pro224Arg	rs1048829612	missense variant	-	NC_000004.12:g.145542594C>G	TOPMed,gnomAD
SMAD1	Q15797	p.Pro225Ser	rs1375990946	missense variant	-	NC_000004.12:g.145542596C>T	gnomAD
SMAD1	Q15797	p.Pro225Leu	rs778740344	missense variant	-	NC_000004.12:g.145542597C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala226Val	rs745647196	missense variant	-	NC_000004.12:g.145542600C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro229Ser	rs1395975712	missense variant	-	NC_000004.12:g.145542608C>T	gnomAD
SMAD1	Q15797	p.Pro229Leu	rs953331810	missense variant	-	NC_000004.12:g.145542609C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Pro230Ser	rs1354619028	missense variant	-	NC_000004.12:g.145542611C>T	TOPMed
SMAD1	Q15797	p.Pro230His	rs1310181065	missense variant	-	NC_000004.12:g.145542612C>A	gnomAD
SMAD1	Q15797	p.Met234Val	rs772087791	missense variant	-	NC_000004.12:g.145542623A>G	ExAC,gnomAD
SMAD1	Q15797	p.Met234Ile	rs1404877778	missense variant	-	NC_000004.12:g.145542625G>C	gnomAD
SMAD1	Q15797	p.Gln236Arg	rs746555376	missense variant	-	NC_000004.12:g.145542630A>G	ExAC,gnomAD
SMAD1	Q15797	p.Ser239Phe	rs1256260063	missense variant	-	NC_000004.12:g.145542639C>T	gnomAD
SMAD1	Q15797	p.Pro241Gln	rs768015552	missense variant	-	NC_000004.12:g.145542645C>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro241Arg	rs768015552	missense variant	-	NC_000004.12:g.145542645C>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro241Leu	rs768015552	missense variant	-	NC_000004.12:g.145542645C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met242Arg	rs1190518044	missense variant	-	NC_000004.12:g.145542648T>G	gnomAD
SMAD1	Q15797	p.Met242Val	rs769553939	missense variant	-	NC_000004.12:g.145542647A>G	ExAC,gnomAD
SMAD1	Q15797	p.Asp243Asn	rs773776278	missense variant	-	NC_000004.12:g.145542650G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Thr244Ile	rs1199617673	missense variant	-	NC_000004.12:g.145542654C>T	gnomAD
SMAD1	Q15797	p.Thr244Ser	rs1434999063	missense variant	-	NC_000004.12:g.145542653A>T	gnomAD
SMAD1	Q15797	p.Thr244Ala	rs1434999063	missense variant	-	NC_000004.12:g.145542653A>G	gnomAD
SMAD1	Q15797	p.Met246Arg	rs1422525451	missense variant	-	NC_000004.12:g.145542660T>G	TOPMed
SMAD1	Q15797	p.Met246Leu	rs147602934	missense variant	-	NC_000004.12:g.145542659A>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met246Leu	rs147602934	missense variant	-	NC_000004.12:g.145542659A>C	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met246Ile	rs563550038	missense variant	-	NC_000004.12:g.145542661G>C	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met246Ile	rs563550038	missense variant	-	NC_000004.12:g.145542661G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met247Leu	rs1170950479	missense variant	-	NC_000004.12:g.145542662A>T	gnomAD
SMAD1	Q15797	p.Met247Thr	rs1163799095	missense variant	-	NC_000004.12:g.145542663T>C	TOPMed
SMAD1	Q15797	p.Ala248Thr	rs376803119	missense variant	-	NC_000004.12:g.145542665G>A	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala248Val	rs576994811	missense variant	-	NC_000004.12:g.145542666C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro249Arg	rs373778654	missense variant	-	NC_000004.12:g.145542669C>G	ESP,ExAC,gnomAD
SMAD1	Q15797	p.Pro250Leu	rs750281442	missense variant	-	NC_000004.12:g.145542672C>T	ExAC,gnomAD
SMAD1	Q15797	p.Ser253Pro	rs1276554181	missense variant	-	NC_000004.12:g.145542680T>C	gnomAD
SMAD1	Q15797	p.Ile255Val	rs1342577469	missense variant	-	NC_000004.12:g.145542686A>G	gnomAD
SMAD1	Q15797	p.Arg257Thr	rs1263640239	missense variant	-	NC_000004.12:g.145542693G>C	gnomAD
SMAD1	Q15797	p.Gly258Arg	rs1489391654	missense variant	-	NC_000004.12:g.145542695G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Asp259Gly	rs755635795	missense variant	-	NC_000004.12:g.145546703A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val260Gly	rs199712561	missense variant	-	NC_000004.12:g.145546706T>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala262Thr	rs959079905	missense variant	-	NC_000004.12:g.145546711G>A	TOPMed
SMAD1	Q15797	p.Ala262Val	rs1321891857	missense variant	-	NC_000004.12:g.145546712C>T	gnomAD
SMAD1	Q15797	p.Val263Phe	rs1191031214	missense variant	-	NC_000004.12:g.145546714G>T	gnomAD
SMAD1	Q15797	p.Ala264Thr	rs1446834454	missense variant	-	NC_000004.12:g.145546717G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Ala264Ser	rs1446834454	missense variant	-	NC_000004.12:g.145546717G>T	TOPMed,gnomAD
SMAD1	Q15797	p.Ala264Asp	rs1300910971	missense variant	-	NC_000004.12:g.145546718C>A	gnomAD
SMAD1	Q15797	p.Tyr265Phe	rs1198263549	missense variant	-	NC_000004.12:g.145546721A>T	TOPMed
SMAD1	Q15797	p.Glu266Gly	rs1381047432	missense variant	-	NC_000004.12:g.145546724A>G	gnomAD
SMAD1	Q15797	p.Glu267Gln	rs771337852	missense variant	-	NC_000004.12:g.145546726G>C	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Glu267Val	rs1287682168	missense variant	-	NC_000004.12:g.145546727A>T	gnomAD
SMAD1	Q15797	p.Pro268Gln	rs560551988	missense variant	-	NC_000004.12:g.145546730C>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Lys269Glu	rs772617220	missense variant	-	NC_000004.12:g.145546732A>G	ExAC,gnomAD
SMAD1	Q15797	p.His270Asp	rs1246770074	missense variant	-	NC_000004.12:g.145546735C>G	TOPMed,gnomAD
SMAD1	Q15797	p.His270Arg	rs1311897697	missense variant	-	NC_000004.12:g.145546736A>G	gnomAD
SMAD1	Q15797	p.Ser273Cys	rs1239630304	missense variant	-	NC_000004.12:g.145546745C>G	gnomAD
SMAD1	Q15797	p.Ile274Val	rs775680669	missense variant	-	NC_000004.12:g.145546747A>G	TOPMed
SMAD1	Q15797	p.Val275Ala	rs1181856908	missense variant	-	NC_000004.12:g.145546751T>C	TOPMed,gnomAD
SMAD1	Q15797	p.Val275Gly	rs1181856908	missense variant	-	NC_000004.12:g.145546751T>G	TOPMed,gnomAD
SMAD1	Q15797	p.Asn281Ser	rs61748163	missense variant	-	NC_000004.12:g.145546769A>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Arg282Cys	rs768660491	missense variant	-	NC_000004.12:g.145546771C>T	ExAC,gnomAD
SMAD1	Q15797	p.His288Arg	rs143636122	missense variant	-	NC_000004.12:g.145546790A>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala289Thr	rs1415173599	missense variant	-	NC_000004.12:g.145546792G>A	gnomAD
SMAD1	Q15797	p.Ser291Thr	rs1401631127	missense variant	-	NC_000004.12:g.145546798T>A	TOPMed
SMAD1	Q15797	p.Ser291Pro	rs1401631127	missense variant	-	NC_000004.12:g.145546798T>C	TOPMed
SMAD1	Q15797	p.Ser291Phe	rs376805776	missense variant	-	NC_000004.12:g.145546799C>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser291Cys	rs376805776	missense variant	-	NC_000004.12:g.145546799C>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Lys306Arg	rs1173891246	missense variant	-	NC_000004.12:g.145546844A>G	TOPMed,gnomAD
SMAD1	Q15797	p.Asn307Lys	rs375411684	missense variant	-	NC_000004.12:g.145546848C>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Leu314Phe	rs777087139	missense variant	-	NC_000004.12:g.145546867C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Thr322Ile	rs1204905977	missense variant	-	NC_000004.12:g.145546892C>T	gnomAD
SMAD1	Q15797	p.His335Tyr	rs960797999	missense variant	-	NC_000004.12:g.145553789C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Leu336Val	rs199965141	missense variant	-	NC_000004.12:g.145553792C>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val339Phe	rs1451132964	missense variant	-	NC_000004.12:g.145553801G>T	gnomAD
SMAD1	Q15797	p.Val339Gly	rs1168211211	missense variant	-	NC_000004.12:g.145553802T>G	gnomAD
SMAD1	Q15797	p.Glu346Lys	rs750014334	missense variant	-	NC_000004.12:g.145553822G>A	ExAC,gnomAD
SMAD1	Q15797	p.Ser349Gly	rs1325661130	missense variant	-	NC_000004.12:g.145553831A>G	gnomAD
SMAD1	Q15797	p.Ser351Gly	rs758779528	missense variant	-	NC_000004.12:g.145553837A>G	ExAC,gnomAD
SMAD1	Q15797	p.Val355Met	rs1295720261	missense variant	-	NC_000004.12:g.145553849G>A	gnomAD
SMAD1	Q15797	p.Tyr362Cys	rs200152891	missense variant	-	NC_000004.12:g.145553871A>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.His363Arg	rs748195491	missense variant	-	NC_000004.12:g.145553874A>G	ExAC,gnomAD
SMAD1	Q15797	p.Gly365Glu	rs1230494067	missense variant	-	NC_000004.12:g.145553880G>A	gnomAD
SMAD1	Q15797	p.His367Tyr	rs769874336	missense variant	-	NC_000004.12:g.145553885C>T	ExAC
SMAD1	Q15797	p.Thr370Ala	rs142898460	missense variant	-	NC_000004.12:g.145553894A>G	1000Genomes,ExAC,gnomAD
SMAD1	Q15797	p.Pro375His	rs771262658	missense variant	-	NC_000004.12:g.145553910C>A	ExAC,gnomAD
SMAD1	Q15797	p.Pro375Arg	rs771262658	missense variant	-	NC_000004.12:g.145553910C>G	ExAC,gnomAD
SMAD1	Q15797	p.Pro375Ser	rs1247730282	missense variant	-	NC_000004.12:g.145553909C>T	TOPMed
SMAD1	Q15797	p.Ser376Asn	rs775491520	missense variant	-	NC_000004.12:g.145553913G>A	ExAC,gnomAD
SMAD1	Q15797	p.Cys378Tyr	rs1193701780	missense variant	-	NC_000004.12:g.145553919G>A	gnomAD
SMAD1	Q15797	p.Ser379Gly	rs1367670594	missense variant	-	NC_000004.12:g.145553921A>G	gnomAD
SMAD1	Q15797	p.Ser379Asn	rs772196472	missense variant	-	NC_000004.12:g.145553922G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Phe383Val	rs1164957793	missense variant	-	NC_000004.12:g.145553933T>G	TOPMed,gnomAD
SMAD1	Q15797	p.Glu387Gln	rs1418440746	missense variant	-	NC_000004.12:g.145553945G>C	gnomAD
SMAD1	Q15797	p.Ala389Gly	rs763962403	missense variant	-	NC_000004.12:g.145553952C>G	ExAC,gnomAD
SMAD1	Q15797	p.Ala393Val	rs776592095	missense variant	-	NC_000004.12:g.145553964C>T	ExAC
SMAD1	Q15797	p.Gln394Glu	rs1266724381	missense variant	-	NC_000004.12:g.145553966C>G	gnomAD
SMAD1	Q15797	p.His398Tyr	rs1339052741	missense variant	-	NC_000004.12:g.145553978C>T	gnomAD
SMAD1	Q15797	p.Thr402Ile	rs922253917	missense variant	-	NC_000004.12:g.145553991C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Thr407Ile	rs758115726	missense variant	-	NC_000004.12:g.145554006C>T	ExAC,gnomAD
SMAD1	Q15797	p.Met409Thr	rs765987226	missense variant	-	NC_000004.12:g.145554012T>C	ExAC,gnomAD
SMAD1	Q15797	p.Met409Val	rs1265677985	missense variant	-	NC_000004.12:g.145554011A>G	gnomAD
SMAD1	Q15797	p.Ile412Val	rs549602822	missense variant	-	NC_000004.12:g.145554020A>G	1000Genomes,ExAC,gnomAD
SMAD1	Q15797	p.Met414Val	rs781576677	missense variant	-	NC_000004.12:g.145554026A>G	ExAC,gnomAD
SMAD1	Q15797	p.Phe416Leu	rs1361044988	missense variant	-	NC_000004.12:g.145554034T>G	TOPMed
SMAD1	Q15797	p.Phe416Leu	rs748617717	missense variant	-	NC_000004.12:g.145554032T>C	ExAC,gnomAD
SMAD1	Q15797	p.Lys418Arg	rs756161358	missense variant	-	NC_000004.12:g.145554039A>G	ExAC,gnomAD
SMAD1	Q15797	p.Gly421Arg	rs1341223587	missense variant	-	NC_000004.12:g.145557797G>C	gnomAD
SMAD1	Q15797	p.Val429Ile	rs757373765	missense variant	-	NC_000004.12:g.145557821G>A	ExAC,gnomAD
SMAD1	Q15797	p.Pro433Thr	rs1043517752	missense variant	-	NC_000004.12:g.145557833C>A	TOPMed
SMAD1	Q15797	p.Ile436Leu	rs902463763	missense variant	-	NC_000004.12:g.145557842A>C	TOPMed
SMAD1	Q15797	p.His441Tyr	rs746045655	missense variant	-	NC_000004.12:g.145557857C>T	ExAC,TOPMed
SMAD1	Q15797	p.Gly442Ser	rs866688396	missense variant	-	NC_000004.12:g.145557860G>A	TOPMed
SMAD1	Q15797	p.Gly442Asp	rs1455775916	missense variant	-	NC_000004.12:g.145557861G>A	gnomAD
SMAD1	Q15797	p.Gln445Leu	rs1389741545	missense variant	-	NC_000004.12:g.145557870A>T	TOPMed,gnomAD
SMAD1	Q15797	p.Asp448Glu	rs769775136	missense variant	-	NC_000004.12:g.145557880T>G	ExAC,gnomAD
SMAD1	Q15797	p.Asp448Gly	rs747867801	missense variant	-	NC_000004.12:g.145557879A>G	ExAC,gnomAD
SMAD1	Q15797	p.Lys449Gln	rs1457839327	missense variant	-	NC_000004.12:g.145557881A>C	gnomAD
SMAD1	Q15797	p.Leu451Ile	rs1249030519	missense variant	-	NC_000004.12:g.145557887C>A	TOPMed
SMAD1	Q15797	p.Asn459Asp	rs770357649	missense variant	-	NC_000004.12:g.145557911A>G	ExAC,gnomAD
SMAD1	Q15797	p.Ile461Val	rs773885137	missense variant	-	NC_000004.12:g.145557917A>G	ExAC,gnomAD
SMAD1	Q15797	p.Asn2Ser	rs1466114055	missense variant	-	NC_000004.12:g.145514618A>G	TOPMed
SMAD1	Q15797	p.Val3Ala	RCV000488453	missense variant	Primary pulmonary hypertension (PPH1)	NC_000004.12:g.145514621T>C	ClinVar
SMAD1	Q15797	p.Val3Ala	RCV000054384	missense variant	Variant of unknown significance	NC_000004.12:g.145514621T>C	ClinVar
SMAD1	Q15797	p.Val3Ala	rs587777018	missense variant	-	NC_000004.12:g.145514621T>C	UniProt,dbSNP
SMAD1	Q15797	p.Val3Ala	VAR_066869	missense variant	-	NC_000004.12:g.145514621T>C	UniProt
SMAD1	Q15797	p.Val3Ala	rs587777018	missense variant	-	NC_000004.12:g.145514621T>C	-
SMAD1	Q15797	p.Leu6Val	rs1263555564	missense variant	-	NC_000004.12:g.145514629T>G	TOPMed
SMAD1	Q15797	p.Phe9Leu	rs1483244170	missense variant	-	NC_000004.12:g.145514640T>A	gnomAD
SMAD1	Q15797	p.Ala13Thr	rs1198375823	missense variant	-	NC_000004.12:g.145514650G>A	gnomAD
SMAD1	Q15797	p.Ala13Val	rs1427144576	missense variant	-	NC_000004.12:g.145514651C>T	gnomAD
SMAD1	Q15797	p.Val14Met	rs764152098	missense variant	-	NC_000004.12:g.145514653G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Lys15Asn	rs1314342936	missense variant	-	NC_000004.12:g.145514658G>T	TOPMed
SMAD1	Q15797	p.Leu18Ile	rs753790034	missense variant	-	NC_000004.12:g.145514665C>A	ExAC,gnomAD
SMAD1	Q15797	p.Gly23Val	rs778232288	missense variant	-	NC_000004.12:g.145514681G>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gly23Ala	rs778232288	missense variant	-	NC_000004.12:g.145514681G>C	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala36Thr	rs1288555676	missense variant	-	NC_000004.12:g.145514719G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Lys42Arg	rs1306391615	missense variant	-	NC_000004.12:g.145514738A>G	gnomAD
SMAD1	Q15797	p.Met48Val	rs1276376128	missense variant	-	NC_000004.12:g.145514755A>G	gnomAD
SMAD1	Q15797	p.Ala54Val	rs1166928530	missense variant	-	NC_000004.12:g.145514774C>T	TOPMed
SMAD1	Q15797	p.Cys57Phe	rs1447739675	missense variant	-	NC_000004.12:g.145514783G>T	TOPMed
SMAD1	Q15797	p.Cys57Ser	rs1266428811	missense variant	-	NC_000004.12:g.145514782T>A	gnomAD
SMAD1	Q15797	p.Pro58Thr	rs1489454560	missense variant	-	NC_000004.12:g.145514785C>A	gnomAD
SMAD1	Q15797	p.Pro61Leu	rs370506404	missense variant	-	NC_000004.12:g.145514795C>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro61Ser	rs748536621	missense variant	-	NC_000004.12:g.145514794C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Arg69Cys	rs1391030652	missense variant	-	NC_000004.12:g.145514818C>T	gnomAD
SMAD1	Q15797	p.Ser70Pro	rs1162136731	missense variant	-	NC_000004.12:g.145514821T>C	gnomAD
SMAD1	Q15797	p.Leu71Val	rs774689895	missense variant	-	NC_000004.12:g.145514824C>G	ExAC,gnomAD
SMAD1	Q15797	p.Arg80Pro	rs765216463	missense variant	-	NC_000004.12:g.145514852G>C	ExAC,gnomAD
SMAD1	Q15797	p.Gly82Ala	rs1244767218	missense variant	-	NC_000004.12:g.145514858G>C	gnomAD
SMAD1	Q15797	p.Tyr88Ser	rs1202355470	missense variant	-	NC_000004.12:g.145514876A>C	TOPMed
SMAD1	Q15797	p.Arg90His	rs1340868784	missense variant	-	NC_000004.12:g.145514882G>A	TOPMed
SMAD1	Q15797	p.Val91Leu	rs1274878726	missense variant	-	NC_000004.12:g.145514884G>C	TOPMed
SMAD1	Q15797	p.Arg93Cys	rs1260108423	missense variant	-	NC_000004.12:g.145514890C>T	gnomAD
SMAD1	Q15797	p.His100Tyr	rs1190612353	missense variant	-	NC_000004.12:g.145514911C>T	gnomAD
SMAD1	Q15797	p.His101Asn	rs1444311642	missense variant	-	NC_000004.12:g.145514914C>A	gnomAD
SMAD1	Q15797	p.His101GlnAspLeuGlyProLeuLysSerTerValProUnk	rs759155927	stop gained	-	NC_000004.12:g.145514915_145514916insGGATCTTGGCCCCCTCAAGTCCTGAGTGCCT	ExAC
SMAD1	Q15797	p.His101Gln	rs1181944797	missense variant	-	NC_000004.12:g.145514916T>A	TOPMed,gnomAD
SMAD1	Q15797	p.Cys108Tyr	rs755340141	missense variant	-	NC_000004.12:g.145514936G>A	ExAC,gnomAD
SMAD1	Q15797	p.Glu110Gln	rs781477906	missense variant	-	NC_000004.12:g.145514941G>C	ExAC,gnomAD
SMAD1	Q15797	p.Glu110Ala	rs151149022	missense variant	-	NC_000004.12:g.145514942A>C	ESP
SMAD1	Q15797	p.Gly114Ala	rs748527815	missense variant	-	NC_000004.12:g.145514954G>C	ExAC
SMAD1	Q15797	p.Ser115Cys	rs1368835528	missense variant	-	NC_000004.12:g.145514957C>G	TOPMed
SMAD1	Q15797	p.Lys116Arg	rs770267997	missense variant	-	NC_000004.12:g.145514960A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gln117His	rs749373920	missense variant	-	NC_000004.12:g.145514964G>T	ExAC,gnomAD
SMAD1	Q15797	p.Glu119Asp	rs1365256709	missense variant	-	NC_000004.12:g.145514970G>T	gnomAD
SMAD1	Q15797	p.Lys128Asn	rs759778197	missense variant	-	NC_000004.12:g.145514997G>C	ExAC,gnomAD
SMAD1	Q15797	p.Lys128Glu	rs1169433650	missense variant	-	NC_000004.12:g.145514995A>G	TOPMed
SMAD1	Q15797	p.Glu131Gly	rs1210509263	missense variant	-	NC_000004.12:g.145515005A>G	gnomAD
SMAD1	Q15797	p.Ser132Gly	rs776357140	missense variant	-	NC_000004.12:g.145515007A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser132Cys	rs776357140	missense variant	-	NC_000004.12:g.145515007A>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser132Ile	rs1223655159	missense variant	-	NC_000004.12:g.145515008G>T	gnomAD
SMAD1	Q15797	p.Pro133Ser	rs761639240	missense variant	-	NC_000004.12:g.145515010C>T	ExAC,gnomAD
SMAD1	Q15797	p.Pro133Leu	rs765138085	missense variant	-	NC_000004.12:g.145515011C>T	ExAC,gnomAD
SMAD1	Q15797	p.Pro137Ala	rs535199231	missense variant	-	NC_000004.12:g.145539812C>G	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val138Met	rs371393906	missense variant	-	NC_000004.12:g.145539815G>A	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val138Leu	rs371393906	missense variant	-	NC_000004.12:g.145539815G>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val138Leu	rs371393906	missense variant	-	NC_000004.12:g.145539815G>C	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val140Ile	rs1434190878	missense variant	-	NC_000004.12:g.145539821G>A	gnomAD
SMAD1	Q15797	p.Pro141Ser	rs769593299	missense variant	-	NC_000004.12:g.145539824C>T	ExAC,gnomAD
SMAD1	Q15797	p.Pro141Ala	rs769593299	missense variant	-	NC_000004.12:g.145539824C>G	ExAC,gnomAD
SMAD1	Q15797	p.Arg142Gly	rs762817927	missense variant	-	NC_000004.12:g.145539827A>G	ExAC,gnomAD
SMAD1	Q15797	p.Arg142Thr	rs1425989959	missense variant	-	NC_000004.12:g.145539828G>C	gnomAD
SMAD1	Q15797	p.His143Arg	rs1383731571	missense variant	-	NC_000004.12:g.145539831A>G	TOPMed
SMAD1	Q15797	p.Tyr146Cys	rs1364163583	missense variant	-	NC_000004.12:g.145539840A>G	TOPMed
SMAD1	Q15797	p.Asn147Asp	rs118128857	missense variant	-	NC_000004.12:g.145539842A>G	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn147His	rs118128857	missense variant	-	NC_000004.12:g.145539842A>C	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gln155Arg	rs1347615676	missense variant	-	NC_000004.12:g.145539867A>G	TOPMed
SMAD1	Q15797	p.Arg157Cys	rs775993323	missense variant	-	NC_000004.12:g.145539872C>T	ExAC,gnomAD
SMAD1	Q15797	p.Arg157His	rs752342788	missense variant	-	NC_000004.12:g.145539873G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Gly160Glu	rs1201607497	missense variant	-	NC_000004.12:g.145539882G>A	gnomAD
SMAD1	Q15797	p.Pro164Leu	rs1423413774	missense variant	-	NC_000004.12:g.145539894C>T	gnomAD
SMAD1	Q15797	p.His165Arg	rs1247999691	missense variant	-	NC_000004.12:g.145539897A>G	gnomAD
SMAD1	Q15797	p.His165Gln	rs756441656	missense variant	-	NC_000004.12:g.145539898C>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn169Asp	rs1386781473	missense variant	-	NC_000004.12:g.145539908A>G	TOPMed
SMAD1	Q15797	p.Thr171Ile	rs1431189199	missense variant	-	NC_000004.12:g.145539915C>T	gnomAD
SMAD1	Q15797	p.Gln177Arg	rs745997713	missense variant	-	NC_000004.12:g.145539933A>G	ExAC,gnomAD
SMAD1	Q15797	p.Asn180Ser	rs758506902	missense variant	-	NC_000004.12:g.145539942A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser181Arg	rs1367694929	missense variant	-	NC_000004.12:g.145539946C>G	TOPMed,gnomAD
SMAD1	Q15797	p.Pro183Thr	rs1229406859	missense variant	-	NC_000004.12:g.145539950C>A	gnomAD
SMAD1	Q15797	p.Pro183Leu	rs780172594	missense variant	-	NC_000004.12:g.145539951C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro185Ser	rs574850101	missense variant	-	NC_000004.12:g.145539956C>T	1000Genomes,ExAC,gnomAD
SMAD1	Q15797	p.His186Tyr	rs773114294	missense variant	-	NC_000004.12:g.145539959C>T	ExAC,gnomAD
SMAD1	Q15797	p.His186Gln	rs749074021	missense variant	-	NC_000004.12:g.145539961C>G	ExAC,gnomAD
SMAD1	Q15797	p.Asn189Asp	rs1055612175	missense variant	-	NC_000004.12:g.145539968A>G	TOPMed,gnomAD
SMAD1	Q15797	p.Asn189Ser	rs770895114	missense variant	-	NC_000004.12:g.145539969A>G	ExAC,TOPMed
SMAD1	Q15797	p.Asn189Tyr	rs1055612175	missense variant	-	NC_000004.12:g.145539968A>T	TOPMed,gnomAD
SMAD1	Q15797	p.Ser190Arg	rs1294280347	missense variant	-	NC_000004.12:g.145539973C>G	TOPMed
SMAD1	Q15797	p.Ser190Asn	rs1451013268	missense variant	-	NC_000004.12:g.145539972G>A	gnomAD
SMAD1	Q15797	p.Pro193Ser	rs774249301	missense variant	-	NC_000004.12:g.145539980C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asn194His	rs1384430349	missense variant	-	NC_000004.12:g.145539983A>C	gnomAD
SMAD1	Q15797	p.Asn194Asp	rs1384430349	missense variant	-	NC_000004.12:g.145539983A>G	gnomAD
SMAD1	Q15797	p.Ser195Pro	rs1341231187	missense variant	-	NC_000004.12:g.145539986T>C	TOPMed
SMAD1	Q15797	p.Pro196Leu	rs1164715949	missense variant	-	NC_000004.12:g.145539990C>T	gnomAD
SMAD1	Q15797	p.Pro196Ala	rs1471708147	missense variant	-	NC_000004.12:g.145539989C>G	gnomAD
SMAD1	Q15797	p.Ser199Asn	rs537765824	missense variant	-	NC_000004.12:g.145539999G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro204Ala	rs973432572	missense variant	-	NC_000004.12:g.145540013C>G	gnomAD
SMAD1	Q15797	p.Pro207Ser	rs767011109	missense variant	-	NC_000004.12:g.145540022C>T	ExAC,gnomAD
SMAD1	Q15797	p.Thr208Ile	rs775020524	missense variant	-	NC_000004.12:g.145540026C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Asp211His	rs1314660957	missense variant	-	NC_000004.12:g.145540034G>C	gnomAD
SMAD1	Q15797	p.Pro212Ser	rs993095324	missense variant	-	NC_000004.12:g.145540037C>T	TOPMed
SMAD1	Q15797	p.Gly213Glu	rs1338883323	missense variant	-	NC_000004.12:g.145540041G>A	gnomAD
SMAD1	Q15797	p.Ser214Gly	rs763649399	missense variant	-	NC_000004.12:g.145540043A>G	ExAC,gnomAD
SMAD1	Q15797	p.Phe216Leu	rs762249726	missense variant	-	NC_000004.12:g.145540049T>C	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met218Ile	rs765870228	missense variant	-	NC_000004.12:g.145540057G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met218Ile	rs765870228	missense variant	-	NC_000004.12:g.145540057G>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala220Gly	rs754989497	missense variant	-	NC_000004.12:g.145542582C>G	ExAC,gnomAD
SMAD1	Q15797	p.Thr222Met	rs146960039	missense variant	-	NC_000004.12:g.145542588C>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro224Ser	rs1385105737	missense variant	-	NC_000004.12:g.145542593C>T	gnomAD
SMAD1	Q15797	p.Pro224Arg	rs1048829612	missense variant	-	NC_000004.12:g.145542594C>G	TOPMed,gnomAD
SMAD1	Q15797	p.Pro224Leu	rs1048829612	missense variant	-	NC_000004.12:g.145542594C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Pro225Leu	rs778740344	missense variant	-	NC_000004.12:g.145542597C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro225Ser	rs1375990946	missense variant	-	NC_000004.12:g.145542596C>T	gnomAD
SMAD1	Q15797	p.Ala226Val	rs745647196	missense variant	-	NC_000004.12:g.145542600C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro229Ser	rs1395975712	missense variant	-	NC_000004.12:g.145542608C>T	gnomAD
SMAD1	Q15797	p.Pro229Leu	rs953331810	missense variant	-	NC_000004.12:g.145542609C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Pro230Ser	rs1354619028	missense variant	-	NC_000004.12:g.145542611C>T	TOPMed
SMAD1	Q15797	p.Pro230His	rs1310181065	missense variant	-	NC_000004.12:g.145542612C>A	gnomAD
SMAD1	Q15797	p.Met234Val	rs772087791	missense variant	-	NC_000004.12:g.145542623A>G	ExAC,gnomAD
SMAD1	Q15797	p.Met234Ile	rs1404877778	missense variant	-	NC_000004.12:g.145542625G>C	gnomAD
SMAD1	Q15797	p.Gln236Arg	rs746555376	missense variant	-	NC_000004.12:g.145542630A>G	ExAC,gnomAD
SMAD1	Q15797	p.Ser239Phe	rs1256260063	missense variant	-	NC_000004.12:g.145542639C>T	gnomAD
SMAD1	Q15797	p.Pro241Arg	rs768015552	missense variant	-	NC_000004.12:g.145542645C>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro241Gln	rs768015552	missense variant	-	NC_000004.12:g.145542645C>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro241Leu	rs768015552	missense variant	-	NC_000004.12:g.145542645C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met242Arg	rs1190518044	missense variant	-	NC_000004.12:g.145542648T>G	gnomAD
SMAD1	Q15797	p.Met242Val	rs769553939	missense variant	-	NC_000004.12:g.145542647A>G	ExAC,gnomAD
SMAD1	Q15797	p.Asp243Asn	rs773776278	missense variant	-	NC_000004.12:g.145542650G>A	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Thr244Ile	rs1199617673	missense variant	-	NC_000004.12:g.145542654C>T	gnomAD
SMAD1	Q15797	p.Thr244Ser	rs1434999063	missense variant	-	NC_000004.12:g.145542653A>T	gnomAD
SMAD1	Q15797	p.Thr244Ala	rs1434999063	missense variant	-	NC_000004.12:g.145542653A>G	gnomAD
SMAD1	Q15797	p.Met246Leu	rs147602934	missense variant	-	NC_000004.12:g.145542659A>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met246Arg	rs1422525451	missense variant	-	NC_000004.12:g.145542660T>G	TOPMed
SMAD1	Q15797	p.Met246Ile	rs563550038	missense variant	-	NC_000004.12:g.145542661G>C	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met246Leu	rs147602934	missense variant	-	NC_000004.12:g.145542659A>C	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met246Ile	rs563550038	missense variant	-	NC_000004.12:g.145542661G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Met247Leu	rs1170950479	missense variant	-	NC_000004.12:g.145542662A>T	gnomAD
SMAD1	Q15797	p.Met247Thr	rs1163799095	missense variant	-	NC_000004.12:g.145542663T>C	TOPMed
SMAD1	Q15797	p.Ala248Val	rs576994811	missense variant	-	NC_000004.12:g.145542666C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala248Thr	rs376803119	missense variant	-	NC_000004.12:g.145542665G>A	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Pro249Arg	rs373778654	missense variant	-	NC_000004.12:g.145542669C>G	ESP,ExAC,gnomAD
SMAD1	Q15797	p.Pro250Leu	rs750281442	missense variant	-	NC_000004.12:g.145542672C>T	ExAC,gnomAD
SMAD1	Q15797	p.Ser253Pro	rs1276554181	missense variant	-	NC_000004.12:g.145542680T>C	gnomAD
SMAD1	Q15797	p.Ile255Val	rs1342577469	missense variant	-	NC_000004.12:g.145542686A>G	gnomAD
SMAD1	Q15797	p.Arg257Thr	rs1263640239	missense variant	-	NC_000004.12:g.145542693G>C	gnomAD
SMAD1	Q15797	p.Gly258Arg	rs1489391654	missense variant	-	NC_000004.12:g.145542695G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Asp259Gly	rs755635795	missense variant	-	NC_000004.12:g.145546703A>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val260Gly	rs199712561	missense variant	-	NC_000004.12:g.145546706T>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala262Thr	rs959079905	missense variant	-	NC_000004.12:g.145546711G>A	TOPMed
SMAD1	Q15797	p.Ala262Val	rs1321891857	missense variant	-	NC_000004.12:g.145546712C>T	gnomAD
SMAD1	Q15797	p.Val263Phe	rs1191031214	missense variant	-	NC_000004.12:g.145546714G>T	gnomAD
SMAD1	Q15797	p.Ala264Asp	rs1300910971	missense variant	-	NC_000004.12:g.145546718C>A	gnomAD
SMAD1	Q15797	p.Ala264Thr	rs1446834454	missense variant	-	NC_000004.12:g.145546717G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Ala264Ser	rs1446834454	missense variant	-	NC_000004.12:g.145546717G>T	TOPMed,gnomAD
SMAD1	Q15797	p.Tyr265Phe	rs1198263549	missense variant	-	NC_000004.12:g.145546721A>T	TOPMed
SMAD1	Q15797	p.Glu266Gly	rs1381047432	missense variant	-	NC_000004.12:g.145546724A>G	gnomAD
SMAD1	Q15797	p.Glu267Gln	rs771337852	missense variant	-	NC_000004.12:g.145546726G>C	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Glu267Val	rs1287682168	missense variant	-	NC_000004.12:g.145546727A>T	gnomAD
SMAD1	Q15797	p.Pro268Gln	rs560551988	missense variant	-	NC_000004.12:g.145546730C>A	1000Genomes,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Lys269Glu	rs772617220	missense variant	-	NC_000004.12:g.145546732A>G	ExAC,gnomAD
SMAD1	Q15797	p.His270Asp	rs1246770074	missense variant	-	NC_000004.12:g.145546735C>G	TOPMed,gnomAD
SMAD1	Q15797	p.His270Arg	rs1311897697	missense variant	-	NC_000004.12:g.145546736A>G	gnomAD
SMAD1	Q15797	p.Ser273Cys	rs1239630304	missense variant	-	NC_000004.12:g.145546745C>G	gnomAD
SMAD1	Q15797	p.Ile274Val	rs775680669	missense variant	-	NC_000004.12:g.145546747A>G	TOPMed
SMAD1	Q15797	p.Val275Ala	rs1181856908	missense variant	-	NC_000004.12:g.145546751T>C	TOPMed,gnomAD
SMAD1	Q15797	p.Val275Gly	rs1181856908	missense variant	-	NC_000004.12:g.145546751T>G	TOPMed,gnomAD
SMAD1	Q15797	p.Asn281Ser	rs61748163	missense variant	-	NC_000004.12:g.145546769A>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Arg282Cys	rs768660491	missense variant	-	NC_000004.12:g.145546771C>T	ExAC,gnomAD
SMAD1	Q15797	p.His288Arg	rs143636122	missense variant	-	NC_000004.12:g.145546790A>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ala289Thr	rs1415173599	missense variant	-	NC_000004.12:g.145546792G>A	gnomAD
SMAD1	Q15797	p.Ser291Pro	rs1401631127	missense variant	-	NC_000004.12:g.145546798T>C	TOPMed
SMAD1	Q15797	p.Ser291Thr	rs1401631127	missense variant	-	NC_000004.12:g.145546798T>A	TOPMed
SMAD1	Q15797	p.Ser291Cys	rs376805776	missense variant	-	NC_000004.12:g.145546799C>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Ser291Phe	rs376805776	missense variant	-	NC_000004.12:g.145546799C>T	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Lys306Arg	rs1173891246	missense variant	-	NC_000004.12:g.145546844A>G	TOPMed,gnomAD
SMAD1	Q15797	p.Asn307Lys	rs375411684	missense variant	-	NC_000004.12:g.145546848C>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Leu314Phe	rs777087139	missense variant	-	NC_000004.12:g.145546867C>T	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Thr322Ile	rs1204905977	missense variant	-	NC_000004.12:g.145546892C>T	gnomAD
SMAD1	Q15797	p.His335Tyr	rs960797999	missense variant	-	NC_000004.12:g.145553789C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Leu336Val	rs199965141	missense variant	-	NC_000004.12:g.145553792C>G	ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.Val339Phe	rs1451132964	missense variant	-	NC_000004.12:g.145553801G>T	gnomAD
SMAD1	Q15797	p.Val339Gly	rs1168211211	missense variant	-	NC_000004.12:g.145553802T>G	gnomAD
SMAD1	Q15797	p.Glu346Lys	rs750014334	missense variant	-	NC_000004.12:g.145553822G>A	ExAC,gnomAD
SMAD1	Q15797	p.Ser349Gly	rs1325661130	missense variant	-	NC_000004.12:g.145553831A>G	gnomAD
SMAD1	Q15797	p.Ser351Gly	rs758779528	missense variant	-	NC_000004.12:g.145553837A>G	ExAC,gnomAD
SMAD1	Q15797	p.Val355Met	rs1295720261	missense variant	-	NC_000004.12:g.145553849G>A	gnomAD
SMAD1	Q15797	p.Tyr362Cys	rs200152891	missense variant	-	NC_000004.12:g.145553871A>G	ESP,ExAC,TOPMed,gnomAD
SMAD1	Q15797	p.His363Arg	rs748195491	missense variant	-	NC_000004.12:g.145553874A>G	ExAC,gnomAD
SMAD1	Q15797	p.Gly365Glu	rs1230494067	missense variant	-	NC_000004.12:g.145553880G>A	gnomAD
SMAD1	Q15797	p.His367Tyr	rs769874336	missense variant	-	NC_000004.12:g.145553885C>T	ExAC
SMAD1	Q15797	p.Thr370Ala	rs142898460	missense variant	-	NC_000004.12:g.145553894A>G	1000Genomes,ExAC,gnomAD
SMAD1	Q15797	p.Pro375Arg	rs771262658	missense variant	-	NC_000004.12:g.145553910C>G	ExAC,gnomAD
SMAD1	Q15797	p.Pro375His	rs771262658	missense variant	-	NC_000004.12:g.145553910C>A	ExAC,gnomAD
SMAD1	Q15797	p.Pro375Ser	rs1247730282	missense variant	-	NC_000004.12:g.145553909C>T	TOPMed
SMAD1	Q15797	p.Ser376Asn	rs775491520	missense variant	-	NC_000004.12:g.145553913G>A	ExAC,gnomAD
SMAD1	Q15797	p.Cys378Tyr	rs1193701780	missense variant	-	NC_000004.12:g.145553919G>A	gnomAD
SMAD1	Q15797	p.Ser379Gly	rs1367670594	missense variant	-	NC_000004.12:g.145553921A>G	gnomAD
SMAD1	Q15797	p.Ser379Asn	rs772196472	missense variant	-	NC_000004.12:g.145553922G>A	TOPMed,gnomAD
SMAD1	Q15797	p.Phe383Val	rs1164957793	missense variant	-	NC_000004.12:g.145553933T>G	TOPMed,gnomAD
SMAD1	Q15797	p.Glu387Gln	rs1418440746	missense variant	-	NC_000004.12:g.145553945G>C	gnomAD
SMAD1	Q15797	p.Ala389Gly	rs763962403	missense variant	-	NC_000004.12:g.145553952C>G	ExAC,gnomAD
SMAD1	Q15797	p.Ala393Val	rs776592095	missense variant	-	NC_000004.12:g.145553964C>T	ExAC
SMAD1	Q15797	p.Gln394Glu	rs1266724381	missense variant	-	NC_000004.12:g.145553966C>G	gnomAD
SMAD1	Q15797	p.His398Tyr	rs1339052741	missense variant	-	NC_000004.12:g.145553978C>T	gnomAD
SMAD1	Q15797	p.Thr402Ile	rs922253917	missense variant	-	NC_000004.12:g.145553991C>T	TOPMed,gnomAD
SMAD1	Q15797	p.Thr407Ile	rs758115726	missense variant	-	NC_000004.12:g.145554006C>T	ExAC,gnomAD
SMAD1	Q15797	p.Met409Thr	rs765987226	missense variant	-	NC_000004.12:g.145554012T>C	ExAC,gnomAD
SMAD1	Q15797	p.Met409Val	rs1265677985	missense variant	-	NC_000004.12:g.145554011A>G	gnomAD
SMAD1	Q15797	p.Ile412Val	rs549602822	missense variant	-	NC_000004.12:g.145554020A>G	1000Genomes,ExAC,gnomAD
SMAD1	Q15797	p.Met414Val	rs781576677	missense variant	-	NC_000004.12:g.145554026A>G	ExAC,gnomAD
SMAD1	Q15797	p.Phe416Leu	rs748617717	missense variant	-	NC_000004.12:g.145554032T>C	ExAC,gnomAD
SMAD1	Q15797	p.Phe416Leu	rs1361044988	missense variant	-	NC_000004.12:g.145554034T>G	TOPMed
SMAD1	Q15797	p.Lys418Arg	rs756161358	missense variant	-	NC_000004.12:g.145554039A>G	ExAC,gnomAD
SMAD1	Q15797	p.Gly421Arg	rs1341223587	missense variant	-	NC_000004.12:g.145557797G>C	gnomAD
SMAD1	Q15797	p.Val429Ile	rs757373765	missense variant	-	NC_000004.12:g.145557821G>A	ExAC,gnomAD
SMAD1	Q15797	p.Pro433Thr	rs1043517752	missense variant	-	NC_000004.12:g.145557833C>A	TOPMed
SMAD1	Q15797	p.Ile436Leu	rs902463763	missense variant	-	NC_000004.12:g.145557842A>C	TOPMed
SMAD1	Q15797	p.His441Tyr	rs746045655	missense variant	-	NC_000004.12:g.145557857C>T	ExAC,TOPMed
SMAD1	Q15797	p.Gly442Asp	rs1455775916	missense variant	-	NC_000004.12:g.145557861G>A	gnomAD
SMAD1	Q15797	p.Gly442Ser	rs866688396	missense variant	-	NC_000004.12:g.145557860G>A	TOPMed
SMAD1	Q15797	p.Gln445Leu	rs1389741545	missense variant	-	NC_000004.12:g.145557870A>T	TOPMed,gnomAD
SMAD1	Q15797	p.Asp448Glu	rs769775136	missense variant	-	NC_000004.12:g.145557880T>G	ExAC,gnomAD
SMAD1	Q15797	p.Asp448Gly	rs747867801	missense variant	-	NC_000004.12:g.145557879A>G	ExAC,gnomAD
SMAD1	Q15797	p.Lys449Gln	rs1457839327	missense variant	-	NC_000004.12:g.145557881A>C	gnomAD
SMAD1	Q15797	p.Leu451Ile	rs1249030519	missense variant	-	NC_000004.12:g.145557887C>A	TOPMed
SMAD1	Q15797	p.Asn459Asp	rs770357649	missense variant	-	NC_000004.12:g.145557911A>G	ExAC,gnomAD
SMAD1	Q15797	p.Ile461Val	rs773885137	missense variant	-	NC_000004.12:g.145557917A>G	ExAC,gnomAD
EXT1	Q16394	p.Ala3Ser	rs770545182	missense variant	-	NC_000008.11:g.118111040C>A	ExAC,gnomAD
EXT1	Q16394	p.Lys4Arg	rs61757381	missense variant	-	NC_000008.11:g.118111036T>C	gnomAD
EXT1	Q16394	p.Lys4Gln	rs1266937798	missense variant	-	NC_000008.11:g.118111037T>G	gnomAD
EXT1	Q16394	p.Lys5Thr	COSM3896356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118111033T>G	NCI-TCGA Cosmic
EXT1	Q16394	p.Lys5Gln	rs1226048368	missense variant	-	NC_000008.11:g.118111034T>G	gnomAD
EXT1	Q16394	p.Arg6Pro	rs200815125	missense variant	-	NC_000008.11:g.118111030C>G	ExAC,gnomAD
EXT1	Q16394	p.Arg6Leu	rs200815125	missense variant	-	NC_000008.11:g.118111030C>A	ExAC,gnomAD
EXT1	Q16394	p.Ile9Phe	rs772883826	missense variant	-	NC_000008.11:g.118111022T>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Leu11Val	rs769143352	missense variant	-	NC_000008.11:g.118111016G>C	ExAC
EXT1	Q16394	p.Ser12Leu	rs780457793	missense variant	-	NC_000008.11:g.118111012G>A	ExAC,gnomAD
EXT1	Q16394	p.Ala13Gly	rs1291059341	missense variant	-	NC_000008.11:g.118111009G>C	gnomAD
EXT1	Q16394	p.Ser15Cys	rs915340058	missense variant	-	NC_000008.11:g.118111003G>C	TOPMed,gnomAD
EXT1	Q16394	p.Cys16Phe	rs545138851	missense variant	-	NC_000008.11:g.118111000C>A	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Leu19Phe	rs751570075	missense variant	-	NC_000008.11:g.118110992G>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Phe21Ter	rs1064795778	stop gained	-	NC_000008.11:g.118110985_118110986insTT	-
EXT1	Q16394	p.Phe21Ter	RCV000483890	nonsense	-	NC_000008.11:g.118110985_118110986insTT	ClinVar
EXT1	Q16394	p.Phe23Leu	rs200276819	missense variant	-	NC_000008.11:g.118110978G>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gly24Val	rs1306372997	missense variant	-	NC_000008.11:g.118110976C>A	gnomAD
EXT1	Q16394	p.Gly25Arg	rs752644731	missense variant	-	NC_000008.11:g.118110974C>G	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gly25Asp	rs765050783	missense variant	-	NC_000008.11:g.118110973C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gln27Lys	VAR_012815	Missense	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]	-	UniProt
EXT1	Q16394	p.Ala30Thr	rs533027765	missense variant	-	NC_000008.11:g.118110959C>T	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Ser31Leu	rs766091879	missense variant	-	NC_000008.11:g.118110955G>A	ExAC,gnomAD
EXT1	Q16394	p.Ser31Pro	COSM6112161	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110956A>G	NCI-TCGA Cosmic
EXT1	Q16394	p.Ser33Arg	rs147654656	missense variant	-	NC_000008.11:g.118110948G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ser33Arg	rs147654656	missense variant	-	NC_000008.11:g.118110948G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.His34Tyr	rs771543794	missense variant	-	NC_000008.11:g.118110947G>A	ExAC,gnomAD
EXT1	Q16394	p.His34Arg	rs749767023	missense variant	-	NC_000008.11:g.118110946T>C	ExAC,gnomAD
EXT1	Q16394	p.Ser35Arg	rs775906242	missense variant	-	NC_000008.11:g.118110942G>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ser35Ter	RCV000704322	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110944del	ClinVar
EXT1	Q16394	p.Arg36Leu	rs746188012	missense variant	-	NC_000008.11:g.118110940C>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg36Trp	rs770352704	missense variant	-	NC_000008.11:g.118110941G>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg36Gln	rs746188012	missense variant	-	NC_000008.11:g.118110940C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg37Lys	rs757411850	missense variant	-	NC_000008.11:g.118110937C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Glu38Gln	rs747288908	missense variant	-	NC_000008.11:g.118110935C>G	ExAC,gnomAD
EXT1	Q16394	p.Glu38Gly	rs794726874	missense variant	-	NC_000008.11:g.118110934T>C	TOPMed,gnomAD
EXT1	Q16394	p.Glu38Gly	RCV000173067	missense variant	-	NC_000008.11:g.118110934T>C	ClinVar
EXT1	Q16394	p.Glu39Asp	rs78429222	missense variant	-	NC_000008.11:g.118110930T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Glu39Lys	COSM1095384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110932C>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Ser41Arg	rs1186563531	missense variant	-	NC_000008.11:g.118110924G>T	gnomAD
EXT1	Q16394	p.Ser41Asn	RCV000120870	missense variant	-	NC_000008.11:g.118110925C>T	ClinVar
EXT1	Q16394	p.Ser41Asn	rs199862937	missense variant	-	NC_000008.11:g.118110925C>T	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gly42Asp	rs754998142	missense variant	-	NC_000008.11:g.118110922C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gly42Ser	rs368382074	missense variant	-	NC_000008.11:g.118110923C>T	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg43Lys	rs1199393037	missense variant	-	NC_000008.11:g.118110919C>T	gnomAD
EXT1	Q16394	p.Arg43Ser	rs1482036956	missense variant	-	NC_000008.11:g.118110918C>G	gnomAD
EXT1	Q16394	p.Asn44Asp	rs1182285664	missense variant	-	NC_000008.11:g.118110917T>C	TOPMed
EXT1	Q16394	p.Gly45Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110913C>T	NCI-TCGA
EXT1	Q16394	p.His47Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110908G>A	NCI-TCGA
EXT1	Q16394	p.His47Asp	rs1052157677	missense variant	-	NC_000008.11:g.118110908G>C	TOPMed,gnomAD
EXT1	Q16394	p.Pro49His	COSM1095383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110901G>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Pro49Arg	rs150846666	missense variant	-	NC_000008.11:g.118110901G>C	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ser50Gly	rs772811741	missense variant	-	NC_000008.11:g.118110899T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ser50Gly	RCV000268096	missense variant	Hereditary Multiple Osteochondromatosis	NC_000008.11:g.118110899T>C	ClinVar
EXT1	Q16394	p.Pro51Arg	rs761175866	missense variant	-	NC_000008.11:g.118110895G>C	ExAC,gnomAD
EXT1	Q16394	p.Pro51Leu	rs761175866	missense variant	-	NC_000008.11:g.118110895G>A	ExAC,gnomAD
EXT1	Q16394	p.Pro51Ser	rs375138320	missense variant	-	NC_000008.11:g.118110896G>A	ESP,ExAC,gnomAD
EXT1	Q16394	p.Asp52Tyr	rs371717237	missense variant	-	NC_000008.11:g.118110893C>A	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.His53Gln	rs1390552631	missense variant	-	NC_000008.11:g.118110888A>T	TOPMed
EXT1	Q16394	p.Phe54Leu	rs770218370	missense variant	-	NC_000008.11:g.118110885G>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Trp55Gly	rs1187165813	missense variant	-	NC_000008.11:g.118110884A>C	TOPMed,gnomAD
EXT1	Q16394	p.Pro56Ser	rs368004125	missense variant	-	NC_000008.11:g.118110881G>A	ESP,ExAC,gnomAD
EXT1	Q16394	p.Ala61Pro	rs142365518	missense variant	-	NC_000008.11:g.118110866C>G	ESP,TOPMed
EXT1	Q16394	p.Leu62Met	rs373794512	missense variant	-	NC_000008.11:g.118110863G>T	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg63Leu	rs187891947	missense variant	-	NC_000008.11:g.118110859C>A	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg63His	rs187891947	missense variant	-	NC_000008.11:g.118110859C>T	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg63Pro	rs187891947	missense variant	-	NC_000008.11:g.118110859C>G	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Pro64Ser	rs772363578	missense variant	-	NC_000008.11:g.118110857G>A	ExAC,gnomAD
EXT1	Q16394	p.Pro64Leu	rs748138510	missense variant	-	NC_000008.11:g.118110856G>A	ExAC,gnomAD
EXT1	Q16394	p.Val66Gly	rs1242925512	missense variant	-	NC_000008.11:g.118110850A>C	TOPMed
EXT1	Q16394	p.Pro67Arg	rs371817652	missense variant	-	NC_000008.11:g.118110847G>C	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Pro67His	rs371817652	missense variant	-	NC_000008.11:g.118110847G>T	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Asp69Gly	rs1177400977	missense variant	-	NC_000008.11:g.118110841T>C	gnomAD
EXT1	Q16394	p.Gln70His	rs367543871	missense variant	-	NC_000008.11:g.118110837T>A	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Leu71Phe	rs1272922541	missense variant	-	NC_000008.11:g.118110834C>G	gnomAD
EXT1	Q16394	p.Glu72Lys	rs150818931	missense variant	-	NC_000008.11:g.118110833C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Glu72Lys	RCV000822823	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110833C>T	ClinVar
EXT1	Q16394	p.Asn73Lys	rs750250958	missense variant	-	NC_000008.11:g.118110828G>T	ExAC,gnomAD
EXT1	Q16394	p.Asn73Ter	RCV000630811	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110832del	ClinVar
EXT1	Q16394	p.Asn73Ser	rs1265397820	missense variant	-	NC_000008.11:g.118110829T>C	gnomAD
EXT1	Q16394	p.Glu74Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110827C>G	NCI-TCGA
EXT1	Q16394	p.Glu74Gly	rs1318780364	missense variant	-	NC_000008.11:g.118110826T>C	gnomAD
EXT1	Q16394	p.Asp75Tyr	rs867664035	missense variant	-	NC_000008.11:g.118110824C>A	gnomAD
EXT1	Q16394	p.Asp75Asn	rs867664035	missense variant	-	NC_000008.11:g.118110824C>T	gnomAD
EXT1	Q16394	p.Ser76Tyr	rs1409426317	missense variant	-	NC_000008.11:g.118110820G>T	gnomAD
EXT1	Q16394	p.Ser77Arg	rs768341134	missense variant	-	NC_000008.11:g.118110816G>T	ExAC,gnomAD
EXT1	Q16394	p.Ser77Gly	rs767034189	missense variant	-	NC_000008.11:g.118110818T>C	ExAC,gnomAD
EXT1	Q16394	p.Val78Met	rs763650236	missense variant	-	NC_000008.11:g.118110815C>T	ExAC,gnomAD
EXT1	Q16394	p.Val78Glu	COSM3833931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110814A>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Ser81Cys	rs1456372365	missense variant	-	NC_000008.11:g.118110805G>C	gnomAD
EXT1	Q16394	p.Ser81Phe	rs1456372365	missense variant	-	NC_000008.11:g.118110805G>A	gnomAD
EXT1	Q16394	p.Pro82Ser	rs760030507	missense variant	-	NC_000008.11:g.118110803G>A	ExAC,gnomAD
EXT1	Q16394	p.Pro82Leu	rs1038504618	missense variant	-	NC_000008.11:g.118110802G>A	TOPMed,gnomAD
EXT1	Q16394	p.Arg83Gly	rs1249187315	missense variant	-	NC_000008.11:g.118110800G>C	gnomAD
EXT1	Q16394	p.Arg83Ter	RCV000598686	frameshift	-	NC_000008.11:g.118110805dup	ClinVar
EXT1	Q16394	p.Arg83GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.118110800G>-	NCI-TCGA
EXT1	Q16394	p.Arg83ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.118110799_118110800insG	NCI-TCGA
EXT1	Q16394	p.Gln84Ter	rs1064793753	stop gained	-	NC_000008.11:g.118110797G>A	-
EXT1	Q16394	p.Gln84Ter	RCV000483829	nonsense	-	NC_000008.11:g.118110797G>A	ClinVar
EXT1	Q16394	p.Gln84His	rs376231630	missense variant	-	NC_000008.11:g.118110795C>G	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gln84Arg	rs201918002	missense variant	-	NC_000008.11:g.118110796T>C	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Ser90Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110778G>T	NCI-TCGA
EXT1	Q16394	p.Ser90Cys	rs779457389	missense variant	-	NC_000008.11:g.118110778G>C	gnomAD
EXT1	Q16394	p.Ile92Phe	rs772121819	missense variant	-	NC_000008.11:g.118110773T>A	ExAC
EXT1	Q16394	p.Tyr93Ter	rs1227875610	stop gained	-	NC_000008.11:g.118110768G>C	gnomAD
EXT1	Q16394	p.Tyr93Cys	rs1261383828	missense variant	-	NC_000008.11:g.118110769T>C	gnomAD
EXT1	Q16394	p.Tyr93Ter	RCV000630816	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110768G>C	ClinVar
EXT1	Q16394	p.Tyr93Asn	rs1402667727	missense variant	-	NC_000008.11:g.118110770A>T	TOPMed
EXT1	Q16394	p.Lys94Arg	rs1327278823	missense variant	-	NC_000008.11:g.118110766T>C	gnomAD
EXT1	Q16394	p.Gly95Ter	RCV000688480	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110767dup	ClinVar
EXT1	Q16394	p.Lys97Thr	COSM1095382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110757T>G	NCI-TCGA Cosmic
EXT1	Q16394	p.Arg99Cys	rs1397695425	missense variant	-	NC_000008.11:g.118110752G>A	TOPMed
EXT1	Q16394	p.Arg99Leu	rs778849200	missense variant	-	NC_000008.11:g.118110751C>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Met100Ile	rs768927789	missense variant	-	NC_000008.11:g.118110747C>G	ExAC,gnomAD
EXT1	Q16394	p.Met100Leu	rs1331448500	missense variant	-	NC_000008.11:g.118110749T>G	gnomAD
EXT1	Q16394	p.Glu101Gln	rs1350817754	missense variant	-	NC_000008.11:g.118110746C>G	gnomAD
EXT1	Q16394	p.Glu101Gly	rs1384997375	missense variant	-	NC_000008.11:g.118110745T>C	gnomAD
EXT1	Q16394	p.Cys103Tyr	COSM202327	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110739C>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Cys103ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.118110741_118110742insGACT	NCI-TCGA
EXT1	Q16394	p.Cys103Arg	rs1242235773	missense variant	-	NC_000008.11:g.118110740A>G	gnomAD
EXT1	Q16394	p.Asp105Ter	RCV000627629	frameshift	-	NC_000008.11:g.118110734del	ClinVar
EXT1	Q16394	p.Phe106Ile	COSM1330345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110731A>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Lys110Arg	rs1178109514	missense variant	-	NC_000008.11:g.118110718T>C	gnomAD
EXT1	Q16394	p.Asn112LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.118110711_118110712insT	NCI-TCGA
EXT1	Q16394	p.Gly113Ser	rs750116273	missense variant	-	NC_000008.11:g.118110710C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gly113Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110709C>T	NCI-TCGA
EXT1	Q16394	p.Phe114Leu	rs1377414352	missense variant	-	NC_000008.11:g.118110707A>G	gnomAD
EXT1	Q16394	p.Lys115Thr	rs146127753	missense variant	-	NC_000008.11:g.118110703T>G	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Lys115Arg	rs146127753	missense variant	-	NC_000008.11:g.118110703T>C	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Lys115Asn	rs201368821	missense variant	-	NC_000008.11:g.118110702T>G	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val116Phe	rs371163252	missense variant	-	NC_000008.11:g.118110701C>A	ESP,TOPMed
EXT1	Q16394	p.Tyr117Asn	COSM3833930	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110698A>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Tyr117Cys	rs763562992	missense variant	-	NC_000008.11:g.118110697T>C	ExAC,gnomAD
EXT1	Q16394	p.Val118Ile	rs1208144072	missense variant	-	NC_000008.11:g.118110695C>T	gnomAD
EXT1	Q16394	p.Tyr119Cys	rs1360494729	missense variant	-	NC_000008.11:g.118110691T>C	gnomAD
EXT1	Q16394	p.Tyr119His	rs1415760714	missense variant	-	NC_000008.11:g.118110692A>G	gnomAD
EXT1	Q16394	p.Tyr119Ter	RCV000002605	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110690G>T	ClinVar
EXT1	Q16394	p.Tyr119Ter	rs119103289	stop gained	-	NC_000008.11:g.118110690G>T	-
EXT1	Q16394	p.Pro120Ser	rs377676265	missense variant	-	NC_000008.11:g.118110689G>A	ESP,ExAC,gnomAD
EXT1	Q16394	p.Pro120Leu	rs752226935	missense variant	-	NC_000008.11:g.118110688G>A	ExAC,gnomAD
EXT1	Q16394	p.Gln121Ter	RCV000482388	frameshift	-	NC_000008.11:g.118110685del	ClinVar
EXT1	Q16394	p.Gln121Leu	rs1204529411	missense variant	-	NC_000008.11:g.118110685T>A	gnomAD
EXT1	Q16394	p.Lys123Arg	rs773394301	missense variant	-	NC_000008.11:g.118110679T>C	ExAC,gnomAD
EXT1	Q16394	p.Lys123Thr	rs773394301	missense variant	-	NC_000008.11:g.118110679T>G	ExAC,gnomAD
EXT1	Q16394	p.Gly124Arg	rs767986411	missense variant	-	NC_000008.11:g.118110677C>T	ExAC,gnomAD
EXT1	Q16394	p.Gly124Glu	rs761940324	missense variant	-	NC_000008.11:g.118110676C>T	ExAC,gnomAD
EXT1	Q16394	p.Glu125Asp	COSM1095380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110672C>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Ile127Asn	rs143019224	missense variant	-	NC_000008.11:g.118110667A>T	ESP,ExAC
EXT1	Q16394	p.Ala128Ser	rs587778298	missense variant	-	NC_000008.11:g.118110665C>A	ExAC,gnomAD
EXT1	Q16394	p.Ala128Thr	COSM3896354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110665C>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Ala128Ser	RCV000120871	missense variant	-	NC_000008.11:g.118110665C>A	ClinVar
EXT1	Q16394	p.Glu129Lys	rs775712594	missense variant	-	NC_000008.11:g.118110662C>T	ExAC,gnomAD
EXT1	Q16394	p.Ser130Asn	rs1249105856	missense variant	-	NC_000008.11:g.118110658C>T	TOPMed
EXT1	Q16394	p.Gln132Ter	rs1414678503	stop gained	-	NC_000008.11:g.118110653G>A	gnomAD
EXT1	Q16394	p.Asn133His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110650T>G	NCI-TCGA
EXT1	Q16394	p.Ile134Val	rs938133710	missense variant	-	NC_000008.11:g.118110647T>C	TOPMed
EXT1	Q16394	p.Ala137Thr	rs1171135662	missense variant	-	NC_000008.11:g.118110638C>T	gnomAD
EXT1	Q16394	p.Glu139Ter	COSM1496744	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.118110632C>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Gly140Val	rs769557488	missense variant	-	NC_000008.11:g.118110628C>A	ExAC,gnomAD
EXT1	Q16394	p.Phe143Ser	rs1188458258	missense variant	-	NC_000008.11:g.118110619A>G	gnomAD
EXT1	Q16394	p.Tyr144Cys	rs1316804046	missense variant	-	NC_000008.11:g.118110616T>C	gnomAD
EXT1	Q16394	p.Asp147Tyr	rs1245037592	missense variant	-	NC_000008.11:g.118110608C>A	gnomAD
EXT1	Q16394	p.Ser149Asn	rs1414318910	missense variant	-	NC_000008.11:g.118110601C>T	TOPMed
EXT1	Q16394	p.Gln150Lys	rs922587596	missense variant	-	NC_000008.11:g.118110599G>T	TOPMed
EXT1	Q16394	p.Ala151Glu	rs1385688129	missense variant	-	NC_000008.11:g.118110595G>T	gnomAD
EXT1	Q16394	p.Ala151Ser	rs1402547599	missense variant	-	NC_000008.11:g.118110596C>A	TOPMed,gnomAD
EXT1	Q16394	p.Ala151Val	COSM269122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110595G>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Cys152Ter	rs1554601534	stop gained	-	NC_000008.11:g.118110591G>T	-
EXT1	Q16394	p.Cys152Ter	RCV000579269	nonsense	-	NC_000008.11:g.118110591G>T	ClinVar
EXT1	Q16394	p.Phe154Leu	rs757114989	missense variant	-	NC_000008.11:g.118110587A>G	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Phe154Leu	COSM3644543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110585A>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Leu156Pro	rs777356297	missense variant	-	NC_000008.11:g.118110580A>G	ExAC,gnomAD
EXT1	Q16394	p.Leu156Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110581G>T	NCI-TCGA
EXT1	Q16394	p.Leu158Val	rs758078822	missense variant	-	NC_000008.11:g.118110575G>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Thr160Asn	rs975395118	missense variant	-	NC_000008.11:g.118110568G>T	TOPMed
EXT1	Q16394	p.Leu161Ser	rs1410364563	missense variant	-	NC_000008.11:g.118110565A>G	TOPMed
EXT1	Q16394	p.Asp162Asn	rs752137032	missense variant	-	NC_000008.11:g.118110563C>T	ExAC,gnomAD
EXT1	Q16394	p.Arg163Gly	rs544496246	missense variant	-	NC_000008.11:g.118110560T>C	TOPMed
EXT1	Q16394	p.Asp164Glu	COSM6179657	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110555G>C	NCI-TCGA Cosmic
EXT1	Q16394	p.Asp164Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110557C>A	NCI-TCGA
EXT1	Q16394	p.Asp164Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110556T>G	NCI-TCGA
EXT1	Q16394	p.Asp164His	VAR_012816	Missense	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]	-	UniProt
EXT1	Q16394	p.Ser167Ala	rs1227559201	missense variant	-	NC_000008.11:g.118110548A>C	gnomAD
EXT1	Q16394	p.Gln169Ter	COSM1313666	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.118110542G>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Gln169Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110541T>C	NCI-TCGA
EXT1	Q16394	p.Tyr170Cys	rs764741916	missense variant	-	NC_000008.11:g.118110538T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.His172Tyr	rs1403919037	missense variant	-	NC_000008.11:g.118110533G>A	TOPMed
EXT1	Q16394	p.Asn173Asp	rs1448140995	missense variant	-	NC_000008.11:g.118110530T>C	gnomAD
EXT1	Q16394	p.Asn173Ter	RCV000585681	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110528del	ClinVar
EXT1	Q16394	p.Arg175Gly	rs756568263	missense variant	-	NC_000008.11:g.118110524T>C	ExAC,gnomAD
EXT1	Q16394	p.Lys177Glu	rs762291120	missense variant	-	NC_000008.11:g.118110518T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Lys177Ter	RCV000002603	frameshift	Chondrosarcoma	NC_000008.11:g.118110513_118110520del	ClinVar
EXT1	Q16394	p.Gln179Ter	rs886039561	stop gained	-	NC_000008.11:g.118110512G>A	-
EXT1	Q16394	p.Gln179Ter	RCV000630805	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110514_118110515dup	ClinVar
EXT1	Q16394	p.Gln179Ter	RCV000255895	nonsense	-	NC_000008.11:g.118110512G>A	ClinVar
EXT1	Q16394	p.Ser180Thr	rs774883865	missense variant	-	NC_000008.11:g.118110508C>G	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Leu181Pro	COSM292640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110505A>G	NCI-TCGA Cosmic
EXT1	Q16394	p.Leu181Ile	COSM3896353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110506G>T	NCI-TCGA Cosmic
EXT1	Q16394	p.His182Tyr	rs763278350	missense variant	-	NC_000008.11:g.118110503G>A	ExAC
EXT1	Q16394	p.Asn186Thr	rs1387642251	missense variant	-	NC_000008.11:g.118110490T>G	TOPMed,gnomAD
EXT1	Q16394	p.Asn186Ser	rs1387642251	missense variant	-	NC_000008.11:g.118110490T>C	TOPMed,gnomAD
EXT1	Q16394	p.Arg188Met	rs775696069	missense variant	-	NC_000008.11:g.118110484C>A	ExAC,gnomAD
EXT1	Q16394	p.Arg188Lys	rs775696069	missense variant	-	NC_000008.11:g.118110484C>T	ExAC,gnomAD
EXT1	Q16394	p.Leu191Ser	RCV000685852	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110475A>G	ClinVar
EXT1	Q16394	p.Asn194Ser	COSM6179658	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110466T>C	NCI-TCGA Cosmic
EXT1	Q16394	p.Asn194Ter	RCV000521659	nonsense	-	NC_000008.11:g.118110472dup	ClinVar
EXT1	Q16394	p.Ser197Tyr	rs776678803	missense variant	-	NC_000008.11:g.118110457G>T	ExAC,gnomAD
EXT1	Q16394	p.Ser197Cys	rs776678803	missense variant	-	NC_000008.11:g.118110457G>C	ExAC,gnomAD
EXT1	Q16394	p.Ser197Ala	rs1184228548	missense variant	-	NC_000008.11:g.118110458A>C	gnomAD
EXT1	Q16394	p.Gly198Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110454C>T	NCI-TCGA
EXT1	Q16394	p.Thr199Ser	rs746766470	missense variant	-	NC_000008.11:g.118110451G>C	ExAC,gnomAD
EXT1	Q16394	p.Val207Gly	rs757995060	missense variant	-	NC_000008.11:g.118110427A>C	ExAC,gnomAD
EXT1	Q16394	p.Val207Met	rs1228859857	missense variant	-	NC_000008.11:g.118110428C>T	TOPMed,gnomAD
EXT1	Q16394	p.Gly208Glu	rs1217793768	missense variant	-	NC_000008.11:g.118110424C>T	gnomAD
EXT1	Q16394	p.Ile211Ser	rs747844962	missense variant	-	NC_000008.11:g.118110415A>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gly212Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110413C>A	NCI-TCGA
EXT1	Q16394	p.Gly212Ala	rs146407656	missense variant	-	NC_000008.11:g.118110412C>G	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala214Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110407C>T	NCI-TCGA
EXT1	Q16394	p.Met215Leu	rs750877327	missense variant	-	NC_000008.11:g.118110404T>A	ExAC,gnomAD
EXT1	Q16394	p.Met215LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.118110377_118110405CAGTACTGATGCTGGCTTTGGCCAGCATC>-	NCI-TCGA
EXT1	Q16394	p.Met215_Ile221del	VAR_012817	inframe_deletion	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]	-	UniProt
EXT1	Q16394	p.Met215_Ser222delinsIle	VAR_012818	deletion_insertion	-	-	UniProt
EXT1	Q16394	p.Leu216Val	rs781678414	missense variant	-	NC_000008.11:g.118110401G>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala217Val	rs757740272	missense variant	-	NC_000008.11:g.118110397G>A	ExAC,gnomAD
EXT1	Q16394	p.Lys218Ter	RCV000630803	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110400_118110403dup	ClinVar
EXT1	Q16394	p.Lys218Ter	RCV000630810	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110385_118110397del	ClinVar
EXT1	Q16394	p.Ala219Val	rs1405346511	missense variant	-	NC_000008.11:g.118110391G>A	gnomAD
EXT1	Q16394	p.Ser220Gly	RCV000622308	missense variant	Inborn genetic diseases	NC_000008.11:g.118110389T>C	ClinVar
EXT1	Q16394	p.Ser220Gly	rs1554601506	missense variant	-	NC_000008.11:g.118110389T>C	-
EXT1	Q16394	p.Ile221Ser	rs751926824	missense variant	-	NC_000008.11:g.118110385A>C	ExAC,gnomAD
EXT1	Q16394	p.Ser222Thr	rs1473004303	missense variant	-	NC_000008.11:g.118110382C>G	gnomAD
EXT1	Q16394	p.Thr223Ile	rs149242997	missense variant	-	NC_000008.11:g.118110379G>A	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Phe226Leu	rs1336562431	missense variant	-	NC_000008.11:g.118110369G>T	gnomAD
EXT1	Q16394	p.Arg227Gln	COSM1095378	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110367C>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Asn229Ser	rs753036738	missense variant	-	NC_000008.11:g.118110361T>C	ExAC,gnomAD
EXT1	Q16394	p.Ile234Val	rs1003279912	missense variant	-	NC_000008.11:g.118110347T>C	TOPMed,gnomAD
EXT1	Q16394	p.Ile234Phe	rs1003279912	missense variant	-	NC_000008.11:g.118110347T>A	TOPMed,gnomAD
EXT1	Q16394	p.Pro235_Lys239del	VAR_012819	inframe_deletion	-	-	UniProt
EXT1	Q16394	p.Leu236Val	rs1451032732	missense variant	-	NC_000008.11:g.118110341G>C	gnomAD
EXT1	Q16394	p.Asp240His	rs759603929	missense variant	-	NC_000008.11:g.118110329C>G	ExAC,gnomAD
EXT1	Q16394	p.Pro242Leu	rs906230630	missense variant	-	NC_000008.11:g.118110322G>A	TOPMed
EXT1	Q16394	p.Arg243Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110318C>A	NCI-TCGA
EXT1	Q16394	p.Gly246Glu	rs1293618270	missense variant	-	NC_000008.11:g.118110310C>T	TOPMed
EXT1	Q16394	p.Gly246Trp	rs1287362675	missense variant	-	NC_000008.11:g.118110311C>A	gnomAD
EXT1	Q16394	p.Arg248Lys	rs1380196220	missense variant	-	NC_000008.11:g.118110304C>T	TOPMed
EXT1	Q16394	p.Phe250Ile	rs920291906	missense variant	-	NC_000008.11:g.118110299A>T	TOPMed,gnomAD
EXT1	Q16394	p.Leu251Met	rs1294549175	missense variant	-	NC_000008.11:g.118110296A>T	gnomAD
EXT1	Q16394	p.Phe253Leu	rs1436385815	missense variant	-	NC_000008.11:g.118110290A>G	TOPMed,gnomAD
EXT1	Q16394	p.Asn254Tyr	rs1433419013	missense variant	-	NC_000008.11:g.118110287T>A	gnomAD
EXT1	Q16394	p.Thr255Asn	rs1348650954	missense variant	-	NC_000008.11:g.118110283G>T	gnomAD
EXT1	Q16394	p.Pro258Ala	rs768201929	missense variant	-	NC_000008.11:g.118110275G>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Pro258Ser	rs768201929	missense variant	-	NC_000008.11:g.118110275G>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Pro258Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110274G>A	NCI-TCGA
EXT1	Q16394	p.Lys261Glu	COSM453913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.118110266T>C	NCI-TCGA Cosmic
EXT1	Q16394	p.Tyr262His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110263A>G	NCI-TCGA
EXT1	Q16394	p.Met263Val	rs1481574908	missense variant	-	NC_000008.11:g.118110260T>C	gnomAD
EXT1	Q16394	p.Leu264Gln	rs377162411	missense variant	-	NC_000008.11:g.118110256A>T	ESP,ExAC,gnomAD
EXT1	Q16394	p.Leu264Val	rs779457224	missense variant	-	NC_000008.11:g.118110257G>C	ExAC,gnomAD
EXT1	Q16394	p.Val265Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110254C>T	NCI-TCGA
EXT1	Q16394	p.Phe266Ter	RCV000690444	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110249del	ClinVar
EXT1	Q16394	p.Gly268Arg	rs1554601492	missense variant	-	NC_000008.11:g.118110245C>G	-
EXT1	Q16394	p.Gly268Glu	RCV000255528	missense variant	-	NC_000008.11:g.118110244C>T	ClinVar
EXT1	Q16394	p.Gly268Arg	RCV000520277	missense variant	-	NC_000008.11:g.118110245C>G	ClinVar
EXT1	Q16394	p.Gly268Glu	rs886039352	missense variant	-	NC_000008.11:g.118110244C>T	-
EXT1	Q16394	p.Arg270Ser	rs1244929754	missense variant	-	NC_000008.11:g.118110237C>G	gnomAD
EXT1	Q16394	p.Arg270Lys	rs1477621319	missense variant	-	NC_000008.11:g.118110238C>T	gnomAD
EXT1	Q16394	p.Tyr271Cys	rs1064793786	missense variant	-	NC_000008.11:g.118110235T>C	-
EXT1	Q16394	p.Tyr271Cys	RCV000486275	missense variant	-	NC_000008.11:g.118110235T>C	ClinVar
EXT1	Q16394	p.Thr273Arg	rs1185024233	missense variant	-	NC_000008.11:g.118110229G>C	TOPMed
EXT1	Q16394	p.Thr273Ala	rs752153917	missense variant	-	NC_000008.11:g.118110230T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gly274Ter	RCV000397830	frameshift	-	NC_000008.11:g.118110227_118110228del	ClinVar
EXT1	Q16394	p.Ile275Val	rs778280138	missense variant	-	NC_000008.11:g.118110224T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ile275Leu	rs778280138	missense variant	-	NC_000008.11:g.118110224T>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gly276Glu	rs1038559683	missense variant	-	NC_000008.11:g.118110220C>T	TOPMed
EXT1	Q16394	p.Gly276Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110220C>A	NCI-TCGA
EXT1	Q16394	p.Asp278Ala	rs753126504	missense variant	-	NC_000008.11:g.118110214T>G	ExAC,gnomAD
EXT1	Q16394	p.Arg280Gly	rs1554601483	missense variant	-	NC_000008.11:g.118110209T>C	-
EXT1	Q16394	p.Arg280Gly	rs1554601483	missense variant	Hereditary multiple exostoses 1 (EXT1)	NC_000008.11:g.118110209T>C	UniProt,dbSNP
EXT1	Q16394	p.Arg280Gly	VAR_002370	missense variant	Hereditary multiple exostoses 1 (EXT1)	NC_000008.11:g.118110209T>C	UniProt
EXT1	Q16394	p.Arg280Gly	RCV000630813	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110209T>C	ClinVar
EXT1	Q16394	p.Arg280Ser	RCV000699208	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110207C>G	ClinVar
EXT1	Q16394	p.Arg280Ser	VAR_002371	Missense	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]	-	UniProt
EXT1	Q16394	p.Asn281Asp	rs1383240763	missense variant	-	NC_000008.11:g.118110206T>C	TOPMed
EXT1	Q16394	p.Leu283Ter	RCV000630814	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110202del	ClinVar
EXT1	Q16394	p.Tyr284His	rs1302336455	missense variant	-	NC_000008.11:g.118110197A>G	gnomAD
EXT1	Q16394	p.Tyr284Ter	rs1057520608	stop gained	-	NC_000008.11:g.118110195A>T	-
EXT1	Q16394	p.Tyr284Ter	RCV000800945	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110195A>T	ClinVar
EXT1	Q16394	p.Tyr284Ter	RCV000440581	nonsense	-	NC_000008.11:g.118110195A>T	ClinVar
EXT1	Q16394	p.His285Ter	RCV000482528	frameshift	-	NC_000008.11:g.118110193dup	ClinVar
EXT1	Q16394	p.His285Ter	RCV000692334	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.118110193dup	ClinVar
EXT1	Q16394	p.Val286Leu	rs551552671	missense variant	-	NC_000008.11:g.118110191C>G	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Val286Phe	rs551552671	missense variant	-	NC_000008.11:g.118110191C>A	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Glu290Gln	rs759708614	missense variant	-	NC_000008.11:g.118110179C>G	ExAC,gnomAD
EXT1	Q16394	p.Asp291Asn	rs1423177713	missense variant	-	NC_000008.11:g.118110176C>T	TOPMed
EXT1	Q16394	p.Asp291Glu	rs372750330	missense variant	-	NC_000008.11:g.118110174G>C	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Leu294Val	rs760572042	missense variant	-	NC_000008.11:g.118110167G>C	ExAC,gnomAD
EXT1	Q16394	p.Thr296Asn	rs1318697804	missense variant	-	NC_000008.11:g.118110160G>T	gnomAD
EXT1	Q16394	p.His300Arg	rs773198507	missense variant	-	NC_000008.11:g.118110148T>C	ExAC,gnomAD
EXT1	Q16394	p.Asp303Glu	rs1176457130	missense variant	-	NC_000008.11:g.118110138G>C	TOPMed,gnomAD
EXT1	Q16394	p.Trp304Gly	rs1413726979	missense variant	-	NC_000008.11:g.118110137A>C	gnomAD
EXT1	Q16394	p.Trp304Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.118110135C>A	NCI-TCGA
EXT1	Q16394	p.Gln305Ter	RCV000578854	nonsense	-	NC_000008.11:g.118110134G>A	ClinVar
EXT1	Q16394	p.Gln305Ter	rs1554601474	stop gained	-	NC_000008.11:g.118110134G>A	-
EXT1	Q16394	p.His307Ter	RCV000482859	frameshift	-	NC_000008.11:g.118110133dup	ClinVar
EXT1	Q16394	p.Lys308Arg	rs771837506	missense variant	-	NC_000008.11:g.118110124T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ser310Phe	rs908702874	missense variant	-	NC_000008.11:g.118110118G>A	TOPMed
EXT1	Q16394	p.Arg311Leu	rs774050402	missense variant	-	NC_000008.11:g.118110115C>A	ExAC
EXT1	Q16394	p.Arg314Ser	rs1191253387	missense variant	-	NC_000008.11:g.118110105T>G	TOPMed,gnomAD
EXT1	Q16394	p.Asn316Ser	VAR_012820	Missense	-	-	UniProt
EXT1	Q16394	p.Thr317Ser	rs748945641	missense variant	-	NC_000008.11:g.118110097G>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Glu320GlyPheSerTerUnkUnk	COSM453911	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.118110088T>-	NCI-TCGA Cosmic
EXT1	Q16394	p.Glu320Gln	rs1483996169	missense variant	-	NC_000008.11:g.118110089C>G	gnomAD
EXT1	Q16394	p.Lys321Arg	rs779587832	missense variant	-	NC_000008.11:g.118110085T>C	ExAC,gnomAD
EXT1	Q16394	p.Tyr324Ter	rs1554580158	stop gained	-	NC_000008.11:g.117837192A>T	-
EXT1	Q16394	p.Tyr324Ter	RCV000521970	nonsense	-	NC_000008.11:g.117837192A>T	ClinVar
EXT1	Q16394	p.Arg325Trp	rs1394508840	missense variant	-	NC_000008.11:g.117837191G>A	TOPMed,gnomAD
EXT1	Q16394	p.Arg325Gln	rs748651137	missense variant	-	NC_000008.11:g.117837190C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.His329Arg	rs755363067	missense variant	-	NC_000008.11:g.117837178T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.His329Pro	rs755363067	missense variant	-	NC_000008.11:g.117837178T>G	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Asn330Ter	RCV000693405	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117837175_117837176insGA	ClinVar
EXT1	Q16394	p.Ala331Asp	rs1554580153	missense variant	-	NC_000008.11:g.117837172G>T	-
EXT1	Q16394	p.Ala331Asp	RCV000531791	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117837172G>T	ClinVar
EXT1	Q16394	p.Thr332Ser	rs1296350429	missense variant	-	NC_000008.11:g.117837170T>A	gnomAD
EXT1	Q16394	p.Thr332Ser	rs1386640697	missense variant	-	NC_000008.11:g.117837169G>C	TOPMed
EXT1	Q16394	p.Phe333Leu	rs201458269	missense variant	-	NC_000008.11:g.117837165G>T	TOPMed,gnomAD
EXT1	Q16394	p.Phe333Leu	rs201458269	missense variant	-	NC_000008.11:g.117837165G>C	TOPMed,gnomAD
EXT1	Q16394	p.Cys334Tyr	rs538199953	missense variant	-	NC_000008.11:g.117837163C>T	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Cys334Phe	rs538199953	missense variant	-	NC_000008.11:g.117837163C>A	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Val336Ile	rs756329599	missense variant	-	NC_000008.11:g.117837158C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg338His	rs1288618931	missense variant	-	NC_000008.11:g.117837151C>T	TOPMed
EXT1	Q16394	p.Gly339Asp	rs119103288	missense variant	-	NC_000008.11:g.117837148C>T	-
EXT1	Q16394	p.Gly339Asp	RCV000002604	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117837148C>T	ClinVar
EXT1	Q16394	p.Arg340Cys	rs119103290	missense variant	-	NC_000008.11:g.117837146G>A	-
EXT1	Q16394	p.Arg340His	rs119103287	missense variant	-	NC_000008.11:g.117837145C>T	ExAC,gnomAD
EXT1	Q16394	p.Arg340Cys	RCV000255752	missense variant	-	NC_000008.11:g.117837146G>A	ClinVar
EXT1	Q16394	p.Arg340Leu	RCV000002601	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117837145C>A	ClinVar
EXT1	Q16394	p.Arg340Cys	RCV000002606	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117837146G>A	ClinVar
EXT1	Q16394	p.Arg340His	RCV000254839	missense variant	-	NC_000008.11:g.117837145C>T	ClinVar
EXT1	Q16394	p.Arg340His	RCV000630812	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117837145C>T	ClinVar
EXT1	Q16394	p.Arg340Leu	rs119103287	missense variant	-	NC_000008.11:g.117837145C>A	ExAC,gnomAD
EXT1	Q16394	p.Arg340Ser	VAR_002376	Missense	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]	-	UniProt
EXT1	Q16394	p.Arg341Gly	rs1554580149	missense variant	-	NC_000008.11:g.117837143T>C	-
EXT1	Q16394	p.Arg341Trp	rs1554580149	missense variant	-	NC_000008.11:g.117837143T>A	-
EXT1	Q16394	p.Arg341Trp	RCV000520066	missense variant	-	NC_000008.11:g.117837143T>A	ClinVar
EXT1	Q16394	p.Arg341Gly	RCV000799887	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117837143T>C	ClinVar
EXT1	Q16394	p.Leu342Ile	COSM453910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117837140G>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Gly343Trp	rs978347552	missense variant	-	NC_000008.11:g.117837137C>A	gnomAD
EXT1	Q16394	p.Gly343Glu	rs1206600641	missense variant	-	NC_000008.11:g.117837136C>T	TOPMed
EXT1	Q16394	p.Arg346Gly	RCV000630808	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117837128T>C	ClinVar
EXT1	Q16394	p.Arg346Gly	rs1554580147	missense variant	-	NC_000008.11:g.117837128T>C	-
EXT1	Q16394	p.Leu348Met	rs1212142934	missense variant	-	NC_000008.11:g.117837122G>T	gnomAD
EXT1	Q16394	p.Ala354Ser	rs1300462534	missense variant	-	NC_000008.11:g.117835548C>A	gnomAD
EXT1	Q16394	p.Val356Ile	RCV000827733	missense variant	-	NC_000008.11:g.117835542C>T	ClinVar
EXT1	Q16394	p.Val356Ile	RCV000307037	missense variant	Hereditary Multiple Osteochondromatosis	NC_000008.11:g.117835542C>T	ClinVar
EXT1	Q16394	p.Val356SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.117835530_117835542GCATCACAGGGAC>-	NCI-TCGA
EXT1	Q16394	p.Val356Ile	rs61753260	missense variant	-	NC_000008.11:g.117835542C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Pro357Arg	rs1131691337	missense variant	-	NC_000008.11:g.117835538G>C	-
EXT1	Q16394	p.Pro357Arg	RCV000494520	missense variant	-	NC_000008.11:g.117835538G>C	ClinVar
EXT1	Q16394	p.Val358Met	rs760043953	missense variant	-	NC_000008.11:g.117835536C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val358Leu	rs760043953	missense variant	-	NC_000008.11:g.117835536C>G	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Met359Lys	rs549241569	missense variant	-	NC_000008.11:g.117835532A>T	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Met359Ile	COSM3896352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117835531C>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Met359Thr	rs549241569	missense variant	-	NC_000008.11:g.117835532A>G	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Ser361Gly	rs1382345913	missense variant	-	NC_000008.11:g.117835527T>C	gnomAD
EXT1	Q16394	p.Asn362Ser	rs527518789	missense variant	-	NC_000008.11:g.117835523T>C	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Gly363Arg	rs763568003	missense variant	-	NC_000008.11:g.117835521C>G	ExAC,gnomAD
EXT1	Q16394	p.Gly363Arg	rs763568003	missense variant	-	NC_000008.11:g.117835521C>T	ExAC,gnomAD
EXT1	Q16394	p.Trp364Ter	rs1554580035	stop gained	-	NC_000008.11:g.117835516C>T	-
EXT1	Q16394	p.Trp364Ter	RCV000579192	nonsense	-	NC_000008.11:g.117835516C>T	ClinVar
EXT1	Q16394	p.Glu365Lys	rs1028715003	missense variant	-	NC_000008.11:g.117835515C>T	TOPMed
EXT1	Q16394	p.Pro367Thr	rs1371506021	missense variant	-	NC_000008.11:g.117835509G>T	gnomAD
EXT1	Q16394	p.Val371Met	rs1248648070	missense variant	-	NC_000008.11:g.117835497C>T	gnomAD
EXT1	Q16394	p.Asn373Asp	rs142122090	missense variant	-	NC_000008.11:g.117835491T>C	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Asn375Asp	rs1463673192	missense variant	-	NC_000008.11:g.117835485T>C	gnomAD
EXT1	Q16394	p.Ala377Val	rs746080792	missense variant	-	NC_000008.11:g.117835478G>A	ExAC,gnomAD
EXT1	Q16394	p.Val379Ile	rs371233961	missense variant	-	NC_000008.11:g.117835473C>T	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val379Phe	rs371233961	missense variant	-	NC_000008.11:g.117835473C>A	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val379Ile	RCV000120872	missense variant	-	NC_000008.11:g.117835473C>T	ClinVar
EXT1	Q16394	p.Ile380Val	rs747020325	missense variant	-	NC_000008.11:g.117835470T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ile380Leu	rs747020325	missense variant	-	NC_000008.11:g.117835470T>G	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ile380Leu	rs747020325	missense variant	-	NC_000008.11:g.117835470T>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ile380Leu	RCV000176987	missense variant	-	NC_000008.11:g.117835470T>A	ClinVar
EXT1	Q16394	p.Asp382Asn	rs146983754	missense variant	-	NC_000008.11:g.117835464C>T	ESP,gnomAD
EXT1	Q16394	p.Glu383Ter	rs1057520535	stop gained	-	NC_000008.11:g.117835461C>A	-
EXT1	Q16394	p.Glu383Ter	RCV000441764	nonsense	-	NC_000008.11:g.117835461C>A	ClinVar
EXT1	Q16394	p.Glu383Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117835459C>A	NCI-TCGA
EXT1	Q16394	p.Arg384Lys	rs752721885	missense variant	-	NC_000008.11:g.117835457C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Thr392Ile	rs374821962	missense variant	-	NC_000008.11:g.117830339G>A	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Thr392Lys	rs374821962	missense variant	-	NC_000008.11:g.117830339G>T	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ile393Val	rs748083628	missense variant	-	NC_000008.11:g.117830337T>C	ExAC,gnomAD
EXT1	Q16394	p.Arg394Gly	rs1014256212	missense variant	-	NC_000008.11:g.117830334T>C	TOPMed
EXT1	Q16394	p.Ser395Cys	rs1441820398	missense variant	-	NC_000008.11:g.117830330G>C	TOPMed
EXT1	Q16394	p.Ile396Phe	rs749048200	missense variant	-	NC_000008.11:g.117830328T>A	ExAC,gnomAD
EXT1	Q16394	p.Ile396Val	rs749048200	missense variant	-	NC_000008.11:g.117830328T>C	ExAC,gnomAD
EXT1	Q16394	p.His397Arg	rs1222448496	missense variant	-	NC_000008.11:g.117830324T>C	gnomAD
EXT1	Q16394	p.Gln398Lys	rs561006425	missense variant	-	NC_000008.11:g.117830322G>T	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Asp399Val	rs1275929525	missense variant	-	NC_000008.11:g.117830318T>A	TOPMed,gnomAD
EXT1	Q16394	p.Lys400Glu	rs1436463800	missense variant	-	NC_000008.11:g.117830316T>C	gnomAD
EXT1	Q16394	p.Ile401Thr	rs1368862860	missense variant	-	NC_000008.11:g.117830312A>G	gnomAD
EXT1	Q16394	p.Leu404Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117830303A>G	NCI-TCGA
EXT1	Q16394	p.Gln406Arg	COSM3929351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117830297T>C	NCI-TCGA Cosmic
EXT1	Q16394	p.Gln409Lys	rs755694640	missense variant	-	NC_000008.11:g.117830289G>T	ExAC,gnomAD
EXT1	Q16394	p.Phe410Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117830284G>T	NCI-TCGA
EXT1	Q16394	p.Trp412Ter	RCV000760420	nonsense	-	NC_000008.11:g.117830279C>T	ClinVar
EXT1	Q16394	p.Glu413Asp	RCV000270757	missense variant	Hereditary Multiple Osteochondromatosis	NC_000008.11:g.117830275C>A	ClinVar
EXT1	Q16394	p.Glu413Asp	rs756701753	missense variant	-	NC_000008.11:g.117830275C>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala414Val	rs1350355119	missense variant	-	NC_000008.11:g.117830273G>A	TOPMed
EXT1	Q16394	p.Tyr415Ter	COSM453909	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.117830269A>C	NCI-TCGA Cosmic
EXT1	Q16394	p.Glu420Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117830254C>A	NCI-TCGA
EXT1	Q16394	p.Glu420Gly	rs147847222	missense variant	-	NC_000008.11:g.117830255T>C	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Lys421Asn	COSM1095376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117830251C>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Ile422Thr	rs1427060439	missense variant	-	NC_000008.11:g.117830249A>G	TOPMed,gnomAD
EXT1	Q16394	p.Val423Ile	rs1251797288	missense variant	-	NC_000008.11:g.117830247C>T	TOPMed
EXT1	Q16394	p.Thr425Ala	rs1183473800	missense variant	-	NC_000008.11:g.117830241T>C	TOPMed
EXT1	Q16394	p.Leu427Val	rs773539946	missense variant	-	NC_000008.11:g.117830235G>C	ExAC,gnomAD
EXT1	Q16394	p.Leu427Val	RCV000432157	missense variant	-	NC_000008.11:g.117830235G>C	ClinVar
EXT1	Q16394	p.Glu428Gln	rs772435035	missense variant	-	NC_000008.11:g.117830232C>G	ExAC,gnomAD
EXT1	Q16394	p.Asp432Glu	rs748311058	missense variant	-	NC_000008.11:g.117822586G>C	gnomAD
EXT1	Q16394	p.Ile434Met	rs942079736	missense variant	-	NC_000008.11:g.117822580T>C	TOPMed,gnomAD
EXT1	Q16394	p.Ile434Leu	COSM3896350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117822582T>G	NCI-TCGA Cosmic
EXT1	Q16394	p.Phe435Leu	rs183760697	missense variant	-	NC_000008.11:g.117822577G>T	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.His437Asp	rs1277354611	missense variant	-	NC_000008.11:g.117822573G>C	gnomAD
EXT1	Q16394	p.Ile438Thr	rs1228119516	missense variant	-	NC_000008.11:g.117822569A>G	TOPMed
EXT1	Q16394	p.Ile438Met	rs768927725	missense variant	-	NC_000008.11:g.117822568T>C	ExAC,gnomAD
EXT1	Q16394	p.Ile438Val	rs774546763	missense variant	-	NC_000008.11:g.117822570T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ser439Ter	RCV000688370	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117822566G>C	ClinVar
EXT1	Q16394	p.Arg440His	rs144550328	missense variant	-	NC_000008.11:g.117822563C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg440Cys	rs762790189	missense variant	-	NC_000008.11:g.117822564G>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg440His	RCV000630804	missense variant	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117822563C>T	ClinVar
EXT1	Q16394	p.Ser442Gly	rs1313210405	missense variant	-	NC_000008.11:g.117822558T>C	TOPMed,gnomAD
EXT1	Q16394	p.Ile444Met	rs531329914	missense variant	-	NC_000008.11:g.117822550T>C	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Trp445Arg	RCV000521590	missense variant	-	NC_000008.11:g.117822549A>G	ClinVar
EXT1	Q16394	p.Trp445Arg	rs1554579012	missense variant	-	NC_000008.11:g.117822549A>G	-
EXT1	Q16394	p.Asn446Lys	rs745637397	missense variant	-	NC_000008.11:g.117822544G>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Lys447HisValThrValTer	RCV000781341	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117822546_117822568dup	ClinVar
EXT1	Q16394	p.Pro449Leu	rs1484937234	missense variant	-	NC_000008.11:g.117822536G>A	gnomAD
EXT1	Q16394	p.Pro449Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117822537G>A	NCI-TCGA
EXT1	Q16394	p.Gly451Val	rs1430395411	missense variant	-	NC_000008.11:g.117822530C>A	gnomAD
EXT1	Q16394	p.Leu452Val	COSM3896349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117822528A>C	NCI-TCGA Cosmic
EXT1	Q16394	p.Leu452Phe	rs770549520	missense variant	-	NC_000008.11:g.117822526C>A	ExAC,gnomAD
EXT1	Q16394	p.Val454Leu	rs201504622	missense variant	-	NC_000008.11:g.117822522C>G	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val454Ile	rs201504622	missense variant	-	NC_000008.11:g.117822522C>T	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val454Ile	RCV000315374	missense variant	Hereditary Multiple Osteochondromatosis	NC_000008.11:g.117822522C>T	ClinVar
EXT1	Q16394	p.Val454Ile	RCV000395683	missense variant	Langer-Giedion syndrome (TRPS2)	NC_000008.11:g.117822522C>T	ClinVar
EXT1	Q16394	p.Gln457Pro	rs756607210	missense variant	-	NC_000008.11:g.117822512T>G	ExAC,gnomAD
EXT1	Q16394	p.Gln457His	COSM1095375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117822511C>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Gln457Arg	rs756607210	missense variant	-	NC_000008.11:g.117822512T>C	ExAC,gnomAD
EXT1	Q16394	p.Ser459Ter	COSM1095374	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.117822506G>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Leu462Pro	rs1427260383	missense variant	-	NC_000008.11:g.117822497A>G	TOPMed
EXT1	Q16394	p.Gly463Val	rs1314115386	missense variant	-	NC_000008.11:g.117822494C>A	TOPMed
EXT1	Q16394	p.Asp464Val	COSM3896348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117822491T>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Tyr468Cys	rs1375505148	missense variant	-	NC_000008.11:g.117822479T>C	TOPMed
EXT1	Q16394	p.Tyr468Ter	RCV000539518	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117822481del	ClinVar
EXT1	Q16394	p.Tyr469Cys	rs750748090	missense variant	-	NC_000008.11:g.117822476T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Tyr469Phe	rs750748090	missense variant	-	NC_000008.11:g.117822476T>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala470Thr	rs746738537	missense variant	-	NC_000008.11:g.117822474C>T	gnomAD
EXT1	Q16394	p.Ala470Val	rs768039171	missense variant	-	NC_000008.11:g.117822473G>A	ExAC,gnomAD
EXT1	Q16394	p.Leu472Phe	rs376449014	missense variant	-	NC_000008.11:g.117822466T>A	ESP,ExAC,gnomAD
EXT1	Q16394	p.Gly473Asp	rs1473758294	missense variant	-	NC_000008.11:g.117819794C>T	TOPMed
EXT1	Q16394	p.Gly473Ser	rs1231742212	missense variant	-	NC_000008.11:g.117822465C>T	gnomAD
EXT1	Q16394	p.Leu474Val	rs1182351764	missense variant	-	NC_000008.11:g.117819792A>C	TOPMed
EXT1	Q16394	p.Lys475Asn	rs1442814688	missense variant	-	NC_000008.11:g.117819787C>A	TOPMed
EXT1	Q16394	p.Pro476Thr	rs751005275	missense variant	-	NC_000008.11:g.117819786G>T	ExAC,gnomAD
EXT1	Q16394	p.Pro477Arg	RCV000120874	missense variant	-	NC_000008.11:g.117819782G>C	ClinVar
EXT1	Q16394	p.Pro477Arg	rs145720047	missense variant	-	NC_000008.11:g.117819782G>C	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ser478Phe	rs1391879741	missense variant	-	NC_000008.11:g.117819779G>A	gnomAD
EXT1	Q16394	p.Ser478Ter	RCV000554263	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117819786dup	ClinVar
EXT1	Q16394	p.Ser478Ter	RCV000627404	frameshift	-	NC_000008.11:g.117819786dup	ClinVar
EXT1	Q16394	p.Lys479Glu	rs751981937	missense variant	-	NC_000008.11:g.117819777T>C	ExAC,gnomAD
EXT1	Q16394	p.Lys479Arg	rs192596226	missense variant	-	NC_000008.11:g.117819776T>C	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val483Leu	rs1327351154	missense variant	-	NC_000008.11:g.117819765C>G	TOPMed
EXT1	Q16394	p.Ile484Phe	rs763107867	missense variant	-	NC_000008.11:g.117819762T>A	ExAC,gnomAD
EXT1	Q16394	p.His485Arg	rs1159467409	missense variant	-	NC_000008.11:g.117819758T>C	gnomAD
EXT1	Q16394	p.Ala486Val	rs188859975	missense variant	-	NC_000008.11:g.117819755G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala486Val	RCV000120875	missense variant	-	NC_000008.11:g.117819755G>A	ClinVar
EXT1	Q16394	p.Thr488Asn	rs759514310	missense variant	-	NC_000008.11:g.117819749G>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Thr488Ser	rs759514310	missense variant	-	NC_000008.11:g.117819749G>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Pro489Thr	rs201112673	missense variant	-	NC_000008.11:g.117819747G>T	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Pro489Ala	rs201112673	missense variant	-	NC_000008.11:g.117819747G>C	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Leu490Ter	RCV000697332	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117819749dup	ClinVar
EXT1	Q16394	p.Leu490Ter	RCV000255218	frameshift	-	NC_000008.11:g.117819749del	ClinVar
EXT1	Q16394	p.Leu490TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.117819744G>-	NCI-TCGA
EXT1	Q16394	p.Leu490Ter	RCV000255784	frameshift	-	NC_000008.11:g.117819743del	ClinVar
EXT1	Q16394	p.Leu490Ter	RCV000702125	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117819743del	ClinVar
EXT1	Q16394	p.Leu490Ter	RCV000309326	frameshift	-	NC_000008.11:g.117819749dup	ClinVar
EXT1	Q16394	p.Leu490Ter	RCV000821985	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117819749del	ClinVar
EXT1	Q16394	p.Ser492Phe	rs369235843	missense variant	-	NC_000008.11:g.117819737G>A	ESP,TOPMed
EXT1	Q16394	p.Ser494Phe	rs773877597	missense variant	-	NC_000008.11:g.117819731G>A	ExAC,gnomAD
EXT1	Q16394	p.Ser494Pro	rs1248917798	missense variant	-	NC_000008.11:g.117819732A>G	gnomAD
EXT1	Q16394	p.Gln495His	COSM3164991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117819727C>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Pro496Ser	rs139784916	missense variant	-	NC_000008.11:g.117819726G>A	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Pro496Leu	VAR_012822	Missense	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]	-	UniProt
EXT1	Q16394	p.Lys499Arg	rs781738386	missense variant	-	NC_000008.11:g.117819716T>C	ExAC,gnomAD
EXT1	Q16394	p.Leu501LysAsnPheTer	NCI-TCGA novel	stop gained	-	NC_000008.11:g.117819708_117819709insTTAGAAATTCTT	NCI-TCGA
EXT1	Q16394	p.Val502Leu	rs778048374	missense variant	-	NC_000008.11:g.117819708C>G	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val502Met	rs778048374	missense variant	-	NC_000008.11:g.117819708C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val502Leu	rs778048374	missense variant	-	NC_000008.11:g.117819708C>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala503Val	rs1460054632	missense variant	-	NC_000008.11:g.117819704G>A	TOPMed
EXT1	Q16394	p.Ala504Val	rs752931018	missense variant	-	NC_000008.11:g.117819701G>A	ExAC,gnomAD
EXT1	Q16394	p.Lys506Met	COSM3896347	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117819695T>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Lys506Arg	rs201675147	missense variant	-	NC_000008.11:g.117819695T>C	1000Genomes
EXT1	Q16394	p.Gln508His	rs1468056863	missense variant	-	NC_000008.11:g.117819688C>G	gnomAD
EXT1	Q16394	p.Gln508Arg	rs915757314	missense variant	-	NC_000008.11:g.117819689T>C	TOPMed
EXT1	Q16394	p.Tyr509Cys	rs1475246488	missense variant	-	NC_000008.11:g.117819686T>C	TOPMed
EXT1	Q16394	p.Gln512Glu	rs1383256196	missense variant	-	NC_000008.11:g.117819678G>C	gnomAD
EXT1	Q16394	p.Ile513Val	rs1188968853	missense variant	-	NC_000008.11:g.117818530T>C	gnomAD
EXT1	Q16394	p.Ile513Thr	COSM1454476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117818529A>G	NCI-TCGA Cosmic
EXT1	Q16394	p.Ile514Met	rs1475399570	missense variant	-	NC_000008.11:g.117818525T>C	gnomAD
EXT1	Q16394	p.Asn518Thr	rs750392304	missense variant	-	NC_000008.11:g.117818514T>G	ExAC,gnomAD
EXT1	Q16394	p.Asn518Lys	rs1199361133	missense variant	-	NC_000008.11:g.117818513A>T	TOPMed
EXT1	Q16394	p.Cys519Ter	rs1554578706	stop gained	-	NC_000008.11:g.117818510A>T	-
EXT1	Q16394	p.Cys519Ter	RCV000523456	nonsense	-	NC_000008.11:g.117818510A>T	ClinVar
EXT1	Q16394	p.Asp520Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117818508T>C	NCI-TCGA
EXT1	Q16394	p.Pro524Ala	rs1427879295	missense variant	-	NC_000008.11:g.117818497G>C	TOPMed
EXT1	Q16394	p.Ala525Thr	rs1285562876	missense variant	-	NC_000008.11:g.117818494C>T	TOPMed,gnomAD
EXT1	Q16394	p.Lys526Arg	rs901022947	missense variant	-	NC_000008.11:g.117818490T>C	TOPMed,gnomAD
EXT1	Q16394	p.Lys526Ter	RCV000686425	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117818491T>A	ClinVar
EXT1	Q16394	p.Arg528Leu	rs751404551	missense variant	-	NC_000008.11:g.117818484C>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg528Cys	rs761451875	missense variant	-	NC_000008.11:g.117818485G>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg528Pro	COSM4804148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117818484C>G	NCI-TCGA Cosmic
EXT1	Q16394	p.Arg528His	rs751404551	missense variant	-	NC_000008.11:g.117818484C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Trp529Cys	rs763608530	missense variant	-	NC_000008.11:g.117818480C>G	ExAC,gnomAD
EXT1	Q16394	p.Trp529Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.117818480C>T	NCI-TCGA
EXT1	Q16394	p.Trp529Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117818481C>A	NCI-TCGA
EXT1	Q16394	p.Pro530Arg	rs762747719	missense variant	-	NC_000008.11:g.117818478G>C	ExAC,gnomAD
EXT1	Q16394	p.Ala531Thr	rs1336890378	missense variant	-	NC_000008.11:g.117818476C>T	gnomAD
EXT1	Q16394	p.Ala531Asp	rs1328220647	missense variant	-	NC_000008.11:g.117818475G>T	gnomAD
EXT1	Q16394	p.Ala533Thr	rs775110739	missense variant	-	NC_000008.11:g.117818470C>T	ExAC,gnomAD
EXT1	Q16394	p.Val534Leu	rs769496005	missense variant	-	NC_000008.11:g.117818467C>G	ExAC,gnomAD
EXT1	Q16394	p.Val534Met	rs769496005	missense variant	-	NC_000008.11:g.117818467C>T	ExAC,gnomAD
EXT1	Q16394	p.Val534Leu	COSM6179659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117818467C>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Pro535Ser	rs1006713733	missense variant	-	NC_000008.11:g.117818464G>A	TOPMed
EXT1	Q16394	p.Val537Ile	rs144397063	missense variant	-	NC_000008.11:g.117818458C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val538Ile	rs767492816	missense variant	-	NC_000008.11:g.117818455C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ile539Asn	rs779357756	missense variant	-	NC_000008.11:g.117818451A>T	ExAC,gnomAD
EXT1	Q16394	p.Ile539Thr	rs779357756	missense variant	-	NC_000008.11:g.117818451A>G	ExAC,gnomAD
EXT1	Q16394	p.Ile539Met	COSM117287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117818450A>C	NCI-TCGA Cosmic
EXT1	Q16394	p.Ile539Phe	rs1233420413	missense variant	-	NC_000008.11:g.117818452T>A	gnomAD
EXT1	Q16394	p.Gly541Arg	rs1435547768	missense variant	-	NC_000008.11:g.117818446C>T	gnomAD
EXT1	Q16394	p.Lys544Arg	rs759528254	missense variant	-	NC_000008.11:g.117818436T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Val545Gly	rs1368926188	missense variant	-	NC_000008.11:g.117812960A>C	TOPMed,gnomAD
EXT1	Q16394	p.Met546Ile	rs1322784502	missense variant	-	NC_000008.11:g.117812956C>T	gnomAD
EXT1	Q16394	p.Ser548AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.117812952T>-	NCI-TCGA
EXT1	Q16394	p.Ser548Gly	rs780189656	missense variant	-	NC_000008.11:g.117812952T>C	ExAC,gnomAD
EXT1	Q16394	p.Arg549His	rs1317388728	missense variant	-	NC_000008.11:g.117812948C>T	TOPMed,gnomAD
EXT1	Q16394	p.Arg549Leu	rs1317388728	missense variant	-	NC_000008.11:g.117812948C>A	TOPMed,gnomAD
EXT1	Q16394	p.Arg549Cys	rs770038045	missense variant	-	NC_000008.11:g.117812949G>A	ExAC,gnomAD
EXT1	Q16394	p.Leu551Gln	rs745890180	missense variant	-	NC_000008.11:g.117812942A>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Leu551Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117812943G>C	NCI-TCGA
EXT1	Q16394	p.Asp554Asn	rs751582814	missense variant	-	NC_000008.11:g.117812934C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Asp554Tyr	rs751582814	missense variant	-	NC_000008.11:g.117812934C>A	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Asn555Ile	rs1392782817	missense variant	-	NC_000008.11:g.117812930T>A	gnomAD
EXT1	Q16394	p.Asn555Asp	rs777698557	missense variant	-	NC_000008.11:g.117812931T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ile556Phe	COSM486002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117812928T>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Thr558Ala	rs561994950	missense variant	-	NC_000008.11:g.117812922T>C	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Asp559Glu	rs752594306	missense variant	-	NC_000008.11:g.117812917G>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala560Val	rs1486918382	missense variant	-	NC_000008.11:g.117812915G>A	gnomAD
EXT1	Q16394	p.Ala560Thr	rs754680491	missense variant	-	NC_000008.11:g.117812916C>T	ExAC,gnomAD
EXT1	Q16394	p.Ser563Asn	rs1345805410	missense variant	-	NC_000008.11:g.117812906C>T	TOPMed,gnomAD
EXT1	Q16394	p.Ser563Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117812907T>C	NCI-TCGA
EXT1	Q16394	p.Leu564Phe	rs1297906558	missense variant	-	NC_000008.11:g.117812904G>A	gnomAD
EXT1	Q16394	p.Thr568Ter	RCV000598655	frameshift	-	NC_000008.11:g.117812894_117812910dup	ClinVar
EXT1	Q16394	p.Thr568Met	rs1361550108	missense variant	-	NC_000008.11:g.117812891G>A	gnomAD
EXT1	Q16394	p.Val569Met	rs1428345482	missense variant	-	NC_000008.11:g.117812889C>T	gnomAD
EXT1	Q16394	p.Ser571Leu	rs1305323658	missense variant	-	NC_000008.11:g.117812882G>A	TOPMed
EXT1	Q16394	p.Thr573Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117812877T>C	NCI-TCGA
EXT1	Q16394	p.Asp576Ter	RCV000479149	frameshift	-	NC_000008.11:g.117807373_117807374insA	ClinVar
EXT1	Q16394	p.Ala578Thr	rs775804762	missense variant	-	NC_000008.11:g.117807368C>T	ExAC,gnomAD
EXT1	Q16394	p.Val581Ala	rs765703551	missense variant	-	NC_000008.11:g.117807358A>G	ExAC,gnomAD
EXT1	Q16394	p.Gln583His	rs575895733	missense variant	-	NC_000008.11:g.117807351C>G	1000Genomes,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Gln583Arg	rs1309175788	missense variant	-	NC_000008.11:g.117807352T>C	TOPMed,gnomAD
EXT1	Q16394	p.Ser584Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117807349C>A	NCI-TCGA
EXT1	Q16394	p.Glu587Lys	rs1231316310	missense variant	-	NC_000008.11:g.117807341C>T	gnomAD
EXT1	Q16394	p.Gly591Ala	rs1335741663	missense variant	-	NC_000008.11:g.117807328C>G	gnomAD
EXT1	Q16394	p.Tyr592Cys	rs773446843	missense variant	-	NC_000008.11:g.117807325T>C	ExAC,gnomAD
EXT1	Q16394	p.Ala594Thr	rs1388996809	missense variant	-	NC_000008.11:g.117807320C>T	TOPMed
EXT1	Q16394	p.Ala594Gly	rs374887549	missense variant	-	NC_000008.11:g.117807319G>C	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Arg595His	COSM1205857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117807316C>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Arg595GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.117807315_117807316GC>-	NCI-TCGA
EXT1	Q16394	p.Trp599Gly	rs138006768	missense variant	-	NC_000008.11:g.117807305A>C	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Trp599Arg	rs138006768	missense variant	-	NC_000008.11:g.117807305A>G	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Asn601Asp	rs372876057	missense variant	-	NC_000008.11:g.117807299T>C	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ser602Phe	COSM3896342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117807295G>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Glu604Ter	rs1554657437	stop gained	-	NC_000008.11:g.117807290C>A	-
EXT1	Q16394	p.Glu604Ter	RCV000691886	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117807290C>A	ClinVar
EXT1	Q16394	p.Glu604Ter	RCV000578934	nonsense	-	NC_000008.11:g.117807290C>A	ClinVar
EXT1	Q16394	p.Arg605Pro	rs755747479	missense variant	-	NC_000008.11:g.117807286C>G	ExAC,gnomAD
EXT1	Q16394	p.Arg605Trp	rs146967463	missense variant	-	NC_000008.11:g.117807287G>A	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ser610Ala	rs184475999	missense variant	-	NC_000008.11:g.117807272A>C	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Thr613Met	rs753261171	missense variant	-	NC_000008.11:g.117807262G>A	ExAC,gnomAD
EXT1	Q16394	p.Thr613Ala	rs534809501	missense variant	-	NC_000008.11:g.117807263T>C	1000Genomes,ExAC,gnomAD
EXT1	Q16394	p.Asp615Asn	rs1252579899	missense variant	-	NC_000008.11:g.117807257C>T	gnomAD
EXT1	Q16394	p.Val619Ala	rs761025295	missense variant	-	NC_000008.11:g.117807244A>G	ExAC,gnomAD
EXT1	Q16394	p.Val619Leu	rs766571771	missense variant	-	NC_000008.11:g.117807245C>A	ExAC,gnomAD
EXT1	Q16394	p.Val619Leu	rs766571771	missense variant	-	NC_000008.11:g.117807245C>G	ExAC,gnomAD
EXT1	Q16394	p.Gly622Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117807235C>G	NCI-TCGA
EXT1	Q16394	p.Ala623Thr	COSM346925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117807233C>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Ile625Val	rs773393953	missense variant	-	NC_000008.11:g.117807227T>C	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Tyr626Ter	rs886039357	stop gained	-	NC_000008.11:g.117807222G>C	-
EXT1	Q16394	p.Tyr626Ter	RCV000254878	nonsense	-	NC_000008.11:g.117807222G>C	ClinVar
EXT1	Q16394	p.His627Gln	rs772344042	missense variant	-	NC_000008.11:g.117807219G>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.His627del	VAR_002377	inframe_deletion	Hereditary multiple exostoses 1 (EXT1) [MIM:133700]	-	UniProt
EXT1	Q16394	p.Lys628Arg	rs1251059183	missense variant	-	NC_000008.11:g.117807217T>C	TOPMed,gnomAD
EXT1	Q16394	p.Tyr629Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117804891T>A	NCI-TCGA
EXT1	Q16394	p.His631Tyr	COSM3644538	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117804886G>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Tyr632Ter	COSM3698807	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.117804881G>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Ser635Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117804874A>C	NCI-TCGA
EXT1	Q16394	p.Tyr637Asp	rs760190441	missense variant	-	NC_000008.11:g.117804868A>C	TOPMed,gnomAD
EXT1	Q16394	p.Ala640Thr	COSM1095370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117804859C>T	NCI-TCGA Cosmic
EXT1	Q16394	p.Asp647Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117804837T>C	NCI-TCGA
EXT1	Q16394	p.Gln648His	rs761914342	missense variant	-	NC_000008.11:g.117804833T>G	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala650Asp	rs1315338862	missense variant	-	NC_000008.11:g.117804828G>T	gnomAD
EXT1	Q16394	p.Asn651Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117804825T>A	NCI-TCGA
EXT1	Q16394	p.Ile655Val	rs1294490923	missense variant	-	NC_000008.11:g.117804814T>C	TOPMed
EXT1	Q16394	p.Met657Ile	rs1390390714	missense variant	-	NC_000008.11:g.117804806C>G	TOPMed
EXT1	Q16394	p.Phe659Leu	rs762841739	missense variant	-	NC_000008.11:g.117804800G>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Phe659Leu	rs768587413	missense variant	-	NC_000008.11:g.117804802A>G	ExAC,gnomAD
EXT1	Q16394	p.Leu660Gln	rs1335974361	missense variant	-	NC_000008.11:g.117804798A>T	gnomAD
EXT1	Q16394	p.Val661Gly	rs775353874	missense variant	-	NC_000008.11:g.117804795A>C	ExAC,gnomAD
EXT1	Q16394	p.Val661Glu	rs775353874	missense variant	-	NC_000008.11:g.117804795A>T	ExAC,gnomAD
EXT1	Q16394	p.Ser662Phe	rs769638712	missense variant	-	NC_000008.11:g.117804792G>A	ExAC,gnomAD
EXT1	Q16394	p.Ser662Cys	rs769638712	missense variant	-	NC_000008.11:g.117804792G>C	ExAC,gnomAD
EXT1	Q16394	p.Ala663Val	COSM3698684	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117804789G>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Leu667Ter	RCV000494661	nonsense	-	NC_000008.11:g.117804777A>T	ClinVar
EXT1	Q16394	p.Leu667Ter	rs1131692020	stop gained	-	NC_000008.11:g.117804777A>T	-
EXT1	Q16394	p.Pro668Ser	rs1290707883	missense variant	-	NC_000008.11:g.117804775G>A	TOPMed
EXT1	Q16394	p.Pro668Leu	COSM6179660	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117804774G>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Pro669Leu	rs961046001	missense variant	-	NC_000008.11:g.117804771G>A	TOPMed
EXT1	Q16394	p.Pro669Ter	RCV000705577	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117804773del	ClinVar
EXT1	Q16394	p.Pro669Ser	rs868551404	missense variant	-	NC_000008.11:g.117804772G>A	TOPMed
EXT1	Q16394	p.Ile670Val	rs1006977291	missense variant	-	NC_000008.11:g.117804769T>C	gnomAD
EXT1	Q16394	p.Ile670Phe	rs1006977291	missense variant	-	NC_000008.11:g.117804769T>A	gnomAD
EXT1	Q16394	p.Gln674Arg	rs776200312	missense variant	-	NC_000008.11:g.117804756T>C	ExAC,gnomAD
EXT1	Q16394	p.Lys676Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117804751T>C	NCI-TCGA
EXT1	Q16394	p.Tyr678Phe	COSM421757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117804744T>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Tyr678Ter	RCV000578692	nonsense	-	NC_000008.11:g.117804743A>C	ClinVar
EXT1	Q16394	p.Tyr678Ter	rs1554657213	stop gained	-	NC_000008.11:g.117804743A>C	-
EXT1	Q16394	p.Glu680Ala	COSM1095368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117804738T>G	NCI-TCGA Cosmic
EXT1	Q16394	p.Met682Thr	rs1278931362	missense variant	-	NC_000008.11:g.117804732A>G	gnomAD
EXT1	Q16394	p.Met683Ile	rs1340913968	missense variant	-	NC_000008.11:g.117804728C>T	gnomAD
EXT1	Q16394	p.Met683Leu	rs1198261263	missense variant	-	NC_000008.11:g.117804730T>A	gnomAD
EXT1	Q16394	p.Ser687Ter	RCV000630818	frameshift	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117799895del	ClinVar
EXT1	Q16394	p.Ser687Phe	rs1282927259	missense variant	-	NC_000008.11:g.117799893G>A	gnomAD
EXT1	Q16394	p.Arg688Trp	rs138855109	missense variant	-	NC_000008.11:g.117799891G>A	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala689Thr	rs1336352739	missense variant	-	NC_000008.11:g.117799888C>T	TOPMed,gnomAD
EXT1	Q16394	p.Ala689Ser	rs1336352739	missense variant	-	NC_000008.11:g.117799888C>A	TOPMed,gnomAD
EXT1	Q16394	p.Arg691His	rs746678682	missense variant	-	NC_000008.11:g.117799881C>T	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Ala693Thr	rs1326876362	missense variant	-	NC_000008.11:g.117799876C>T	gnomAD
EXT1	Q16394	p.Pro695Thr	rs1461749491	missense variant	-	NC_000008.11:g.117799870G>T	gnomAD
EXT1	Q16394	p.Asp696Asn	rs771535658	missense variant	-	NC_000008.11:g.117799867C>T	ExAC,gnomAD
EXT1	Q16394	p.Phe698Ser	COSM748505	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117799860A>G	NCI-TCGA Cosmic
EXT1	Q16394	p.Gln700Lys	rs773320520	missense variant	-	NC_000008.11:g.117799855G>T	gnomAD
EXT1	Q16394	p.Arg701Ter	rs1363815113	stop gained	-	NC_000008.11:g.117799852G>A	gnomAD
EXT1	Q16394	p.Arg701Ter	RCV000630806	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117799852G>A	ClinVar
EXT1	Q16394	p.Arg701Ter	RCV000579207	nonsense	-	NC_000008.11:g.117799852G>A	ClinVar
EXT1	Q16394	p.Gln702Ter	rs1554656266	stop gained	-	NC_000008.11:g.117799849G>A	-
EXT1	Q16394	p.Gln702Ter	RCV000630815	nonsense	Multiple congenital exostosis (EXT1)	NC_000008.11:g.117799849G>A	ClinVar
EXT1	Q16394	p.Met705Val	rs1287294447	missense variant	-	NC_000008.11:g.117799840T>C	TOPMed
EXT1	Q16394	p.Thr707Met	rs756718693	missense variant	-	NC_000008.11:g.117799833G>A	ExAC
EXT1	Q16394	p.Ala709Ser	rs905281147	missense variant	-	NC_000008.11:g.117799828C>A	gnomAD
EXT1	Q16394	p.Ser710Gly	rs1451386410	missense variant	-	NC_000008.11:g.117799825T>C	gnomAD
EXT1	Q16394	p.Trp711Ter	rs786205593	stop gained	-	NC_000008.11:g.117799821C>T	-
EXT1	Q16394	p.Trp711Ter	RCV000171418	nonsense	-	NC_000008.11:g.117799821C>T	ClinVar
EXT1	Q16394	p.Phe712Leu	rs575830428	missense variant	-	NC_000008.11:g.117799819A>G	1000Genomes,gnomAD
EXT1	Q16394	p.Met715Val	rs1225915837	missense variant	-	NC_000008.11:g.117799810T>C	TOPMed,gnomAD
EXT1	Q16394	p.Met715Leu	rs1225915837	missense variant	-	NC_000008.11:g.117799810T>G	TOPMed,gnomAD
EXT1	Q16394	p.Pro716Leu	rs781722411	missense variant	-	NC_000008.11:g.117799806G>A	ExAC,gnomAD
EXT1	Q16394	p.Pro716Thr	COSM1454470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117799807G>T	NCI-TCGA Cosmic
EXT1	Q16394	p.His719Leu	rs751787859	missense variant	-	NC_000008.11:g.117799797T>A	ExAC,gnomAD
EXT1	Q16394	p.His719Pro	rs751787859	missense variant	-	NC_000008.11:g.117799797T>G	ExAC,gnomAD
EXT1	Q16394	p.His719Asp	rs1364578501	missense variant	-	NC_000008.11:g.117799798G>C	gnomAD
EXT1	Q16394	p.His719Arg	rs751787859	missense variant	-	NC_000008.11:g.117799797T>C	ExAC,gnomAD
EXT1	Q16394	p.Ser720Cys	rs1373349863	missense variant	-	NC_000008.11:g.117799794G>C	gnomAD
EXT1	Q16394	p.Gln721Ter	rs764391436	stop gained	-	NC_000008.11:g.117799792G>A	ExAC,gnomAD
EXT1	Q16394	p.Gln721Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117799791T>C	NCI-TCGA
EXT1	Q16394	p.Leu724Pro	rs758347621	missense variant	-	NC_000008.11:g.117799782A>G	ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Asp725Asn	rs765113358	missense variant	-	NC_000008.11:g.117799780C>T	ExAC,gnomAD
EXT1	Q16394	p.Val727Ile	rs146096724	missense variant	-	NC_000008.11:g.117799774C>T	ESP,ExAC,TOPMed,gnomAD
EXT1	Q16394	p.Lys730ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.117799764_117799765insG	NCI-TCGA
EXT1	Q16394	p.Asp731Tyr	COSM1095367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.117799762C>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Gln732Arg	rs1188494289	missense variant	-	NC_000008.11:g.117799758T>C	gnomAD
EXT1	Q16394	p.Ile735Val	rs200106029	missense variant	-	NC_000008.11:g.117799750T>C	TOPMed,gnomAD
EXT1	Q16394	p.Arg741Ter	COSM5062850	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.117799732G>A	NCI-TCGA Cosmic
EXT1	Q16394	p.Asp742Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.117799729C>A	NCI-TCGA
EXT1	Q16394	p.Ile743Val	rs1477526677	missense variant	-	NC_000008.11:g.117799726T>C	TOPMed,gnomAD
EXT1	Q16394	p.Arg745Ter	rs756691505	stop gained	-	NC_000008.11:g.117799720G>A	TOPMed
KYNU	Q16719	p.Glu2Gly	rs1278323246	missense variant	-	NC_000002.12:g.142885372A>G	TOPMed
KYNU	Q16719	p.Glu2Lys	rs1225791141	missense variant	-	NC_000002.12:g.142885371G>A	gnomAD
KYNU	Q16719	p.Pro3His	rs1267770545	missense variant	-	NC_000002.12:g.142885375C>A	gnomAD
KYNU	Q16719	p.Ser4Ter	rs757769470	stop gained	-	NC_000002.12:g.142885378C>A	ExAC,gnomAD
KYNU	Q16719	p.Leu6Pro	rs1213214051	missense variant	-	NC_000002.12:g.142885384T>C	gnomAD
KYNU	Q16719	p.Leu6Ile	COSM282332	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885383C>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Glu7Ter	rs1251337220	stop gained	-	NC_000002.12:g.142885386G>T	gnomAD
KYNU	Q16719	p.Glu7Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142885386G>C	NCI-TCGA
KYNU	Q16719	p.Leu8Pro	rs765348171	missense variant	-	NC_000002.12:g.142885390T>C	ExAC,gnomAD
KYNU	Q16719	p.Pro9Leu	rs376052980	missense variant	-	NC_000002.12:g.142885393C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro9Ser	rs750469909	missense variant	-	NC_000002.12:g.142885392C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp11Asn	rs747191524	missense variant	-	NC_000002.12:g.142885398G>A	ExAC,gnomAD
KYNU	Q16719	p.Thr12Ala	rs1369056083	missense variant	-	NC_000002.12:g.142885401A>G	TOPMed,gnomAD
KYNU	Q16719	p.Thr12Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142885402C>G	NCI-TCGA
KYNU	Q16719	p.Val13Ala	rs1460438773	missense variant	-	NC_000002.12:g.142885405T>C	gnomAD
KYNU	Q16719	p.Gln14Ter	rs1305968991	stop gained	-	NC_000002.12:g.142885407C>T	TOPMed
KYNU	Q16719	p.Gln14Lys	COSM716531	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885407C>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Arg15Leu	rs200861229	missense variant	-	NC_000002.12:g.142885411G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg15Cys	rs1031922730	missense variant	-	NC_000002.12:g.142885410C>T	TOPMed
KYNU	Q16719	p.Arg15His	rs200861229	missense variant	-	NC_000002.12:g.142885411G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg15His	rs200861229	missense variant	-	NC_000002.12:g.142885411G>A	NCI-TCGA
KYNU	Q16719	p.Ile16Val	COSM5183365	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885413A>G	NCI-TCGA Cosmic
KYNU	Q16719	p.Ile16Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142885413A>C	NCI-TCGA
KYNU	Q16719	p.Ala17Val	rs770963937	missense variant	-	NC_000002.12:g.142885417C>T	ExAC,gnomAD
KYNU	Q16719	p.Ala17Glu	rs770963937	missense variant	-	NC_000002.12:g.142885417C>A	ExAC,gnomAD
KYNU	Q16719	p.Leu20Phe	rs745395140	missense variant	-	NC_000002.12:g.142885425C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys21Glu	rs1160123157	missense variant	-	NC_000002.12:g.142885428A>G	TOPMed
KYNU	Q16719	p.Lys21Thr	rs957303861	missense variant	-	NC_000002.12:g.142885429A>C	TOPMed
KYNU	Q16719	p.Cys22Ser	rs760372138	missense variant	-	NC_000002.12:g.142885432G>C	ExAC,gnomAD
KYNU	Q16719	p.Cys22Arg	rs775287103	missense variant	-	NC_000002.12:g.142885431T>C	ExAC,gnomAD
KYNU	Q16719	p.Pro24Ser	rs141597680	missense variant	-	NC_000002.12:g.142885437C>T	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Thr25Ala	rs1209537470	missense variant	-	NC_000002.12:g.142885440A>G	gnomAD
KYNU	Q16719	p.Thr25Lys	rs199895914	missense variant	-	NC_000002.12:g.142885441C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Thr25Met	rs199895914	missense variant	-	NC_000002.12:g.142885441C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg28Thr	rs766375772	missense variant	-	NC_000002.12:g.142885450G>C	ExAC,gnomAD
KYNU	Q16719	p.Arg28Lys	rs766375772	missense variant	-	NC_000002.12:g.142885450G>A	ExAC,gnomAD
KYNU	Q16719	p.Arg28Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142885450G>T	NCI-TCGA
KYNU	Q16719	p.Val29Met	rs751792034	missense variant	-	NC_000002.12:g.142885452G>A	ExAC,gnomAD
KYNU	Q16719	p.Ala30Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142885455G>T	NCI-TCGA
KYNU	Q16719	p.Leu31Phe	rs1185754984	missense variant	-	NC_000002.12:g.142885458C>T	gnomAD
KYNU	Q16719	p.His32Pro	COSM3894893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885462A>C	NCI-TCGA Cosmic
KYNU	Q16719	p.Asp34His	rs1157898315	missense variant	-	NC_000002.12:g.142885467G>C	gnomAD
KYNU	Q16719	p.Asp34Gly	rs1255953822	missense variant	-	NC_000002.12:g.142885468A>G	TOPMed
KYNU	Q16719	p.Glu35Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142885470G>A	NCI-TCGA
KYNU	Q16719	p.Glu36Lys	rs753701829	missense variant	-	NC_000002.12:g.142885473G>A	NCI-TCGA
KYNU	Q16719	p.Glu36Lys	rs753701829	missense variant	-	NC_000002.12:g.142885473G>A	ExAC,gnomAD
KYNU	Q16719	p.Glu36Ter	rs753701829	stop gained	-	NC_000002.12:g.142885473G>T	ExAC,gnomAD
KYNU	Q16719	p.Lys38Thr	rs1305007193	missense variant	-	NC_000002.12:g.142885480A>C	TOPMed,gnomAD
KYNU	Q16719	p.Arg40Lys	rs779009664	missense variant	-	NC_000002.12:g.142885486G>A	ExAC,gnomAD
KYNU	Q16719	p.His41Tyr	rs146238174	missense variant	-	NC_000002.12:g.142885488C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.His41Leu	rs1203636425	missense variant	-	NC_000002.12:g.142885489A>T	TOPMed
KYNU	Q16719	p.Phe42Leu	rs779601985	missense variant	-	NC_000002.12:g.142885491T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg43Gly	rs746689071	missense variant	-	NC_000002.12:g.142885494A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Cys45Trp	rs1256331249	missense variant	-	NC_000002.12:g.142885502C>G	gnomAD
KYNU	Q16719	p.Cys45Arg	COSM1007095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142885500T>C	NCI-TCGA Cosmic
KYNU	Q16719	p.Cys45Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142885501G>A	NCI-TCGA
KYNU	Q16719	p.Phe46Leu	rs776106261	missense variant	-	NC_000002.12:g.142885503T>C	ExAC,gnomAD
KYNU	Q16719	p.Ile48Phe	rs762184984	missense variant	-	NC_000002.12:g.142885509A>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys50Thr	rs370934769	missense variant	-	NC_000002.12:g.142885516A>C	ESP
KYNU	Q16719	p.Lys50Glu	rs770083748	missense variant	-	NC_000002.12:g.142885515A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Gln52Lys	rs557224936	missense variant	-	NC_000002.12:g.142885521C>A	TOPMed
KYNU	Q16719	p.Gln52His	rs375522416	missense variant	-	NC_000002.12:g.142885523G>C	ESP,TOPMed,gnomAD
KYNU	Q16719	p.Asp53Val	rs773708408	missense variant	-	NC_000002.12:g.142885525A>T	ExAC,gnomAD
KYNU	Q16719	p.Asp53Glu	rs763444024	missense variant	-	NC_000002.12:g.142885526T>G	ExAC,gnomAD
KYNU	Q16719	p.Pro55Leu	rs751630031	missense variant	-	NC_000002.12:g.142885531C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro56Leu	rs535280440	missense variant	-	NC_000002.12:g.142885534C>T	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Pro56Gln	rs535280440	missense variant	-	NC_000002.12:g.142885534C>A	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Asp58Tyr	rs766361158	missense variant	-	NC_000002.12:g.142918611G>T	ExAC,gnomAD
KYNU	Q16719	p.Asp58Asn	rs766361158	missense variant	-	NC_000002.12:g.142918611G>A	ExAC,gnomAD
KYNU	Q16719	p.Asp58Val	rs751390957	missense variant	-	NC_000002.12:g.142918612A>T	ExAC,gnomAD
KYNU	Q16719	p.Asp58Gly	rs751390957	missense variant	-	NC_000002.12:g.142918612A>G	ExAC,gnomAD
KYNU	Q16719	p.Leu59Phe	rs1418071159	missense variant	-	NC_000002.12:g.142918616A>T	gnomAD
KYNU	Q16719	p.Ser60Leu	rs1407121968	missense variant	-	NC_000002.12:g.142918618C>T	gnomAD
KYNU	Q16719	p.Asn63Ser	rs1393856017	missense variant	-	NC_000002.12:g.142918627A>G	gnomAD
KYNU	Q16719	p.Asn63Lys	rs201592797	missense variant	-	NC_000002.12:g.142918628T>G	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys64Glu	rs1322808333	missense variant	-	NC_000002.12:g.142918629A>G	TOPMed,gnomAD
KYNU	Q16719	p.Asp65Asn	rs780559952	missense variant	-	NC_000002.12:g.142918632G>A	ExAC,gnomAD
KYNU	Q16719	p.Glu66Gly	rs910841644	missense variant	-	NC_000002.12:g.142918636A>G	TOPMed,gnomAD
KYNU	Q16719	p.Glu66Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142918635G>C	NCI-TCGA
KYNU	Q16719	p.Ala68Thr	rs1381316973	missense variant	-	NC_000002.12:g.142918641G>A	gnomAD
KYNU	Q16719	p.Ile69Val	rs777366701	missense variant	-	NC_000002.12:g.142918644A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile69Phe	rs777366701	missense variant	-	NC_000002.12:g.142918644A>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Tyr70Cys	rs1332040911	missense variant	-	NC_000002.12:g.142918648A>G	gnomAD
KYNU	Q16719	p.Tyr70Ter	rs749679620	stop gained	-	NC_000002.12:g.142918649T>A	ExAC,gnomAD
KYNU	Q16719	p.Tyr70Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142918647T>A	NCI-TCGA
KYNU	Q16719	p.Phe71Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142918652C>A	NCI-TCGA
KYNU	Q16719	p.Gly73Glu	COSM3567291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142918657G>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Asn74Ser	rs1447933131	missense variant	-	NC_000002.12:g.142918660A>G	gnomAD
KYNU	Q16719	p.Ser75Tyr	COSM3425247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142918663C>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Gln79Pro	rs774927973	missense variant	-	NC_000002.12:g.142918675A>C	ExAC,gnomAD
KYNU	Q16719	p.Pro80Ser	rs1240840110	missense variant	-	NC_000002.12:g.142918677C>T	gnomAD
KYNU	Q16719	p.Pro80Arg	rs746357812	missense variant	-	NC_000002.12:g.142918678C>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys84Arg	rs1417168611	missense variant	-	NC_000002.12:g.142918690A>G	gnomAD
KYNU	Q16719	p.Leu87Val	rs761016933	missense variant	-	NC_000002.12:g.142918698C>G	ExAC,gnomAD
KYNU	Q16719	p.Leu87Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142918698C>A	NCI-TCGA
KYNU	Q16719	p.Glu88Gln	rs1386001668	missense variant	-	NC_000002.12:g.142918701G>C	gnomAD
KYNU	Q16719	p.Glu89Lys	rs764440203	missense variant	-	NC_000002.12:g.142918704G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu89Gln	rs764440203	missense variant	-	NC_000002.12:g.142918704G>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu90Lys	COSM1399775	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142918707G>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Glu90Gln	rs776944258	missense variant	-	NC_000002.12:g.142918707G>C	ExAC
KYNU	Q16719	p.Asp92His	rs762818928	missense variant	-	NC_000002.12:g.142918713G>C	ExAC,gnomAD
KYNU	Q16719	p.Asp92Gly	rs1360718806	missense variant	-	NC_000002.12:g.142918714A>G	TOPMed,gnomAD
KYNU	Q16719	p.Lys93Asn	rs766018464	missense variant	-	NC_000002.12:g.142918718G>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala95Thr	rs199881067	missense variant	-	NC_000002.12:g.142918722G>A	1000Genomes,TOPMed,gnomAD
KYNU	Q16719	p.Ala95Ser	rs199881067	missense variant	-	NC_000002.12:g.142918722G>T	1000Genomes,TOPMed,gnomAD
KYNU	Q16719	p.Ile97Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142918729T>C	NCI-TCGA
KYNU	Q16719	p.Ala98Thr	rs760185735	missense variant	-	NC_000002.12:g.142927660G>A	ExAC,gnomAD
KYNU	Q16719	p.Tyr100Cys	rs753547596	missense variant	-	NC_000002.12:g.142927667A>G	ExAC,gnomAD
KYNU	Q16719	p.Val104Ala	rs1397196048	missense variant	-	NC_000002.12:g.142927679T>C	gnomAD
KYNU	Q16719	p.Gly105Ala	rs756839567	missense variant	-	NC_000002.12:g.142927682G>C	ExAC,gnomAD
KYNU	Q16719	p.Lys106Gln	rs1429420900	missense variant	-	NC_000002.12:g.142927684A>C	TOPMed
KYNU	Q16719	p.Arg107His	rs545230086	missense variant	-	NC_000002.12:g.142927688G>A	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Arg107Cys	rs373416306	missense variant	-	NC_000002.12:g.142927687C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro108Ser	rs1186246256	missense variant	-	NC_000002.12:g.142927690C>T	TOPMed,gnomAD
KYNU	Q16719	p.Pro108Leu	rs1043905236	missense variant	-	NC_000002.12:g.142927691C>T	TOPMed
KYNU	Q16719	p.Pro108His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142927691C>A	NCI-TCGA
KYNU	Q16719	p.Trp109Ser	rs780720490	missense variant	-	NC_000002.12:g.142927694G>C	ExAC,gnomAD
KYNU	Q16719	p.Trp109Ter	COSM3567293	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.142927694G>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Trp109Cys	COSM6154313	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142927695G>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Ile110Asn	COSM1007097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142927697T>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Gly112Arg	rs375973950	missense variant	-	NC_000002.12:g.142927702G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp113Asn	rs768919861	missense variant	-	NC_000002.12:g.142927705G>A	ExAC,gnomAD
KYNU	Q16719	p.Ser115Asn	rs142820434	missense variant	-	NC_000002.12:g.142927712G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile116Thr	rs369102028	missense variant	-	NC_000002.12:g.142927715T>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val117Ile	rs1265023242	missense variant	-	NC_000002.12:g.142927717G>A	TOPMed
KYNU	Q16719	p.Met120Leu	COSM716527	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142927726A>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Met120Thr	rs531153291	missense variant	-	NC_000002.12:g.142927727T>C	1000Genomes
KYNU	Q16719	p.Lys121Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142927731G>T	NCI-TCGA
KYNU	Q16719	p.Asp122Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142927734C>A	NCI-TCGA
KYNU	Q16719	p.Ile123Thr	rs775475961	missense variant	-	NC_000002.12:g.142927736T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala126Thr	rs755351641	missense variant	-	NC_000002.12:g.142954812G>A	ExAC,gnomAD
KYNU	Q16719	p.Ala126Val	rs767925699	missense variant	-	NC_000002.12:g.142954813C>T	ExAC,gnomAD
KYNU	Q16719	p.Ala126Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142954813C>G	NCI-TCGA
KYNU	Q16719	p.Asn127Ser	rs1038247589	missense variant	-	NC_000002.12:g.142954816A>G	TOPMed
KYNU	Q16719	p.Glu128Asp	COSM1007099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142954820G>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Glu128Ala	rs756218666	missense variant	-	NC_000002.12:g.142954819A>C	ExAC,gnomAD
KYNU	Q16719	p.Glu130Ter	rs868328176	stop gained	-	NC_000002.12:g.142954824G>T	gnomAD
KYNU	Q16719	p.Glu130Ala	rs1161471911	missense variant	-	NC_000002.12:g.142954825A>C	TOPMed
KYNU	Q16719	p.Glu130Lys	rs868328176	missense variant	-	NC_000002.12:g.142954824G>A	gnomAD
KYNU	Q16719	p.Ile131Val	rs777899443	missense variant	-	NC_000002.12:g.142954827A>G	ExAC,gnomAD
KYNU	Q16719	p.Ala132Ser	rs749561053	missense variant	-	NC_000002.12:g.142954830G>T	ExAC,gnomAD
KYNU	Q16719	p.Leu133Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142954833C>A	NCI-TCGA
KYNU	Q16719	p.Met134Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142954838G>T	NCI-TCGA
KYNU	Q16719	p.Thr138Ser	rs377046390	missense variant	-	NC_000002.12:g.142954849C>G	ESP,ExAC,gnomAD
KYNU	Q16719	p.Thr138Ile	rs377046390	missense variant	-	NC_000002.12:g.142954849C>T	ESP,ExAC,gnomAD
KYNU	Q16719	p.Val139Ile	rs1176253447	missense variant	-	NC_000002.12:g.142954851G>A	gnomAD
KYNU	Q16719	p.Leu141Ile	rs1248062805	missense variant	-	NC_000002.12:g.142954857T>A	gnomAD
KYNU	Q16719	p.His142Arg	rs776435144	missense variant	-	NC_000002.12:g.142954861A>G	ExAC,gnomAD
KYNU	Q16719	p.His142Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142954862T>A	NCI-TCGA
KYNU	Q16719	p.Leu143Ile	rs1396101483	missense variant	-	NC_000002.12:g.142954863C>A	gnomAD
KYNU	Q16719	p.Ser147Pro	rs779118861	missense variant	-	NC_000002.12:g.142956206T>C	ExAC,gnomAD
KYNU	Q16719	p.Phe148Cys	rs1180006688	missense variant	-	NC_000002.12:g.142956210T>G	TOPMed
KYNU	Q16719	p.Phe149LeuPheSerTerUnkUnk	COSM5742881	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.142956209T>-	NCI-TCGA Cosmic
KYNU	Q16719	p.Lys150Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142956216A>G	NCI-TCGA
KYNU	Q16719	p.Pro151Thr	rs754796046	missense variant	-	NC_000002.12:g.142956218C>A	ExAC,gnomAD
KYNU	Q16719	p.Thr152Met	rs146601376	missense variant	-	NC_000002.12:g.142956222C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro153Thr	rs1444489351	missense variant	-	NC_000002.12:g.142956224C>A	TOPMed
KYNU	Q16719	p.Pro153Gln	rs769737099	missense variant	-	NC_000002.12:g.142956225C>A	ExAC,gnomAD
KYNU	Q16719	p.Arg155Ter	rs777529766	stop gained	-	NC_000002.12:g.142956230C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg155Gln	rs748827582	missense variant	-	NC_000002.12:g.142956231G>A	ExAC,gnomAD
KYNU	Q16719	p.Tyr156Ter	rs758865880	stop gained	-	NC_000002.12:g.142956235T>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Tyr156Ter	RCV000505808	nonsense	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (VCRL2)	NC_000002.12:g.142956235T>A	ClinVar
KYNU	Q16719	p.Tyr156Ter	RCV000496184	nonsense	-	NC_000002.12:g.142956235T>A	ClinVar
KYNU	Q16719	p.Tyr156His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142956233T>C	NCI-TCGA
KYNU	Q16719	p.Tyr156_Asn465del	VAR_080254	inframe_deletion	Vertebral, cardiac, renal, and limb defects syndrome 2 (VCRL2) [MIM:617661]	-	UniProt
KYNU	Q16719	p.Lys157Ile	rs966535456	missense variant	-	NC_000002.12:g.142956237A>T	TOPMed
KYNU	Q16719	p.Lys157Asn	COSM1007101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142956238A>C	NCI-TCGA Cosmic
KYNU	Q16719	p.Leu159Ile	rs1261672636	missense variant	-	NC_000002.12:g.142956242C>A	TOPMed,gnomAD
KYNU	Q16719	p.Leu159Phe	COSM3567295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142956242C>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Leu160Pro	rs774217191	missense variant	-	NC_000002.12:g.142956246T>C	ExAC,gnomAD
KYNU	Q16719	p.Glu161Lys	rs759252207	missense variant	-	NC_000002.12:g.142956248G>A	ExAC,gnomAD
KYNU	Q16719	p.Ala164Ser	rs772375030	missense variant	-	NC_000002.12:g.142956257G>T	ExAC,gnomAD
KYNU	Q16719	p.Ala164Gly	rs1336326717	missense variant	-	NC_000002.12:g.142956258C>G	gnomAD
KYNU	Q16719	p.Ala164Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142956257G>A	NCI-TCGA
KYNU	Q16719	p.Phe165Leu	rs1272229882	missense variant	-	NC_000002.12:g.142956262C>A	gnomAD
KYNU	Q16719	p.Pro166Arg	rs760909545	missense variant	-	NC_000002.12:g.142956264C>G	ExAC,gnomAD
KYNU	Q16719	p.Pro166His	COSM3406915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142956264C>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Pro166Ser	COSM3567297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142956263C>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Ser167Cys	rs764685144	missense variant	-	NC_000002.12:g.142956267C>G	ExAC,gnomAD
KYNU	Q16719	p.His169Tyr	rs1372767383	missense variant	-	NC_000002.12:g.142956272C>T	TOPMed
KYNU	Q16719	p.Ala171Val	rs147928469	missense variant	-	NC_000002.12:g.142957645C>T	ESP,ExAC,gnomAD
KYNU	Q16719	p.Ile172Val	rs1160528820	missense variant	-	NC_000002.12:g.142957647A>G	gnomAD
KYNU	Q16719	p.Glu173Asp	rs765350117	missense variant	-	NC_000002.12:g.142957652G>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu173Gly	rs201791037	missense variant	-	NC_000002.12:g.142957651A>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ser174Ala	rs1296237289	missense variant	-	NC_000002.12:g.142957653T>G	gnomAD
KYNU	Q16719	p.Gly180Arg	rs373422189	missense variant	-	NC_000002.12:g.142957671G>A	ExAC,gnomAD
KYNU	Q16719	p.Gly180Glu	COSM3567301	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142957672G>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Asn182Tyr	COSM6154311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142957677A>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Ile183Thr	rs375813192	missense variant	-	NC_000002.12:g.142957681T>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu184Asp	rs1338201460	missense variant	-	NC_000002.12:g.142957685A>T	gnomAD
KYNU	Q16719	p.Ser186Asn	rs369993662	missense variant	-	NC_000002.12:g.142957690G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Met187Arg	rs1279826685	missense variant	-	NC_000002.12:g.142957693T>G	TOPMed,gnomAD
KYNU	Q16719	p.Arg188Pro	rs2304705	missense variant	-	NC_000002.12:g.142957696G>C	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg188Gln	RCV000148022	missense variant	-	NC_000002.12:g.142957696G>A	ClinVar
KYNU	Q16719	p.Arg188Gln	rs2304705	missense variant	-	NC_000002.12:g.142957696G>A	UniProt,dbSNP
KYNU	Q16719	p.Arg188Gln	VAR_049724	missense variant	-	NC_000002.12:g.142957696G>A	UniProt
KYNU	Q16719	p.Arg188Gln	rs2304705	missense variant	-	NC_000002.12:g.142957696G>A	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg188Trp	rs147103103	missense variant	-	NC_000002.12:g.142957695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys191Gln	rs1344164112	missense variant	-	NC_000002.12:g.142957704A>C	TOPMed
KYNU	Q16719	p.Pro192Ala	rs778954709	missense variant	-	NC_000002.12:g.142957707C>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu194Gln	rs375714486	missense variant	-	NC_000002.12:g.142957713G>C	ESP,ExAC,gnomAD
KYNU	Q16719	p.Glu194Lys	rs375714486	missense variant	-	NC_000002.12:g.142957713G>A	ESP,ExAC,gnomAD
KYNU	Q16719	p.Gly195Glu	rs774265130	missense variant	-	NC_000002.12:g.142960625G>A	ExAC,gnomAD
KYNU	Q16719	p.Glu197Gln	COSM6154307	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142960630G>C	NCI-TCGA Cosmic
KYNU	Q16719	p.Glu197Gly	rs1230304188	missense variant	-	NC_000002.12:g.142960631A>G	gnomAD
KYNU	Q16719	p.Thr198Ala	RCV000148021	missense variant	Hydroxykynureninuria	NC_000002.12:g.142960633A>G	ClinVar
KYNU	Q16719	p.Thr198Ile	rs1317392728	missense variant	-	NC_000002.12:g.142960634C>T	gnomAD
KYNU	Q16719	p.Thr198Ala	rs606231307	missense variant	-	NC_000002.12:g.142960633A>G	ExAC,gnomAD
KYNU	Q16719	p.Leu199Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142960637T>C	NCI-TCGA
KYNU	Q16719	p.Arg200Ile	rs1228998959	missense variant	-	NC_000002.12:g.142960640G>T	TOPMed
KYNU	Q16719	p.Ile201Thr	rs761707999	missense variant	-	NC_000002.12:g.142960643T>C	ExAC,gnomAD
KYNU	Q16719	p.Ile201Met	rs1275353050	missense variant	-	NC_000002.12:g.142960644A>G	TOPMed,gnomAD
KYNU	Q16719	p.Ile204Met	COSM3990631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142960653C>G	NCI-TCGA Cosmic
KYNU	Q16719	p.Glu206Lys	rs765122670	missense variant	-	NC_000002.12:g.142960657G>A	ExAC,gnomAD
KYNU	Q16719	p.Val207Leu	rs1226411007	missense variant	-	NC_000002.12:g.142960660G>T	TOPMed
KYNU	Q16719	p.Ile208Asn	rs1265027337	missense variant	-	NC_000002.12:g.142960664T>A	gnomAD
KYNU	Q16719	p.Glu209Gly	rs762774031	missense variant	-	NC_000002.12:g.142960667A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys210Asn	rs575687340	missense variant	-	NC_000002.12:g.142960671G>T	1000Genomes,TOPMed,gnomAD
KYNU	Q16719	p.Lys210Asn	rs575687340	missense variant	-	NC_000002.12:g.142960671G>C	1000Genomes,TOPMed,gnomAD
KYNU	Q16719	p.Lys210Glu	rs1325043411	missense variant	-	NC_000002.12:g.142960669A>G	TOPMed
KYNU	Q16719	p.Glu211Lys	rs1422213337	missense variant	-	NC_000002.12:g.142960672G>A	gnomAD
KYNU	Q16719	p.Gly212Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142960675G>A	NCI-TCGA
KYNU	Q16719	p.Asp213Asn	rs373954314	missense variant	-	NC_000002.12:g.142960678G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile215Val	rs543258746	missense variant	-	NC_000002.12:g.142960684A>G	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile215Thr	rs780834721	missense variant	-	NC_000002.12:g.142960685T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile215Phe	rs543258746	missense variant	-	NC_000002.12:g.142960684A>T	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val217Ala	rs752277959	missense variant	-	NC_000002.12:g.142960691T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val217Met	COSM4085248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142960690G>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Ile218Val	rs980182847	missense variant	-	NC_000002.12:g.142960693A>G	TOPMed
KYNU	Q16719	p.Ile218Thr	rs1389033485	missense variant	-	NC_000002.12:g.142960694T>C	gnomAD
KYNU	Q16719	p.Ser221Ile	COSM6154305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142960703G>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Val223Ala	rs756530181	missense variant	-	NC_000002.12:g.142960709T>C	ExAC,gnomAD
KYNU	Q16719	p.Phe225Ser	rs777979926	missense variant	-	NC_000002.12:g.142960715T>C	ExAC,gnomAD
KYNU	Q16719	p.Phe225Leu	rs1339926248	missense variant	-	NC_000002.12:g.142960716T>G	gnomAD
KYNU	Q16719	p.Tyr226His	rs1196979253	missense variant	-	NC_000002.12:g.142960717T>C	TOPMed
KYNU	Q16719	p.Thr227Ala	rs1372805256	missense variant	-	NC_000002.12:g.142960720A>G	gnomAD
KYNU	Q16719	p.Gln229Ter	rs771373782	stop gained	-	NC_000002.12:g.142960726C>T	ExAC,gnomAD
KYNU	Q16719	p.Gln229Lys	rs771373782	missense variant	-	NC_000002.12:g.142960726C>A	ExAC,gnomAD
KYNU	Q16719	p.Pro234Ser	rs745961677	missense variant	-	NC_000002.12:g.142960741C>T	ExAC,gnomAD
KYNU	Q16719	p.Pro234Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142960742C>T	NCI-TCGA
KYNU	Q16719	p.Thr237Lys	rs1205632267	missense variant	-	NC_000002.12:g.142960751C>A	gnomAD
KYNU	Q16719	p.Thr237Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142960751C>G	NCI-TCGA
KYNU	Q16719	p.Ala239Ser	rs1262438307	missense variant	-	NC_000002.12:g.142960756G>T	gnomAD
KYNU	Q16719	p.Ala239Val	rs199529102	missense variant	-	NC_000002.12:g.142960757C>T	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Gly240Val	rs1189391093	missense variant	-	NC_000002.12:g.142960760G>T	gnomAD
KYNU	Q16719	p.Gln241Lys	rs372047239	missense variant	-	NC_000002.12:g.142960762C>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala242Gly	rs141632644	missense variant	-	NC_000002.12:g.142960766C>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala242Val	rs141632644	missense variant	-	NC_000002.12:g.142960766C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala242Thr	rs1162278008	missense variant	-	NC_000002.12:g.142960765G>A	gnomAD
KYNU	Q16719	p.Lys243Glu	rs766249586	missense variant	-	NC_000002.12:g.142960768A>G	ExAC,gnomAD
KYNU	Q16719	p.Gly244Val	rs1480730349	missense variant	-	NC_000002.12:g.142985085G>T	TOPMed,gnomAD
KYNU	Q16719	p.Gly244Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142985085G>A	NCI-TCGA
KYNU	Q16719	p.Cys245Trp	rs137982021	missense variant	-	NC_000002.12:g.142985089T>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Tyr246His	rs751013713	missense variant	-	NC_000002.12:g.142985090T>C	ExAC,gnomAD
KYNU	Q16719	p.Tyr246Cys	rs758940169	missense variant	-	NC_000002.12:g.142985091A>G	ExAC,gnomAD
KYNU	Q16719	p.Val247Ala	rs1237899313	missense variant	-	NC_000002.12:g.142985094T>C	TOPMed
KYNU	Q16719	p.Gly248Asp	rs747104364	missense variant	-	NC_000002.12:g.142985097G>A	ExAC,gnomAD
KYNU	Q16719	p.Gly248Val	rs747104364	missense variant	-	NC_000002.12:g.142985097G>T	ExAC,gnomAD
KYNU	Q16719	p.Phe249Ser	rs1466289057	missense variant	-	NC_000002.12:g.142985100T>C	TOPMed,gnomAD
KYNU	Q16719	p.Phe249Leu	rs1356361964	missense variant	-	NC_000002.12:g.142985099T>C	gnomAD
KYNU	Q16719	p.Asp250His	COSM1325890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142985102G>C	NCI-TCGA Cosmic
KYNU	Q16719	p.Asp250Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142985102G>T	NCI-TCGA
KYNU	Q16719	p.Leu251Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142985106T>A	NCI-TCGA
KYNU	Q16719	p.His253Pro	rs372144733	missense variant	-	NC_000002.12:g.142985112A>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.His253Arg	rs372144733	missense variant	-	NC_000002.12:g.142985112A>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala254Gly	rs1275344728	missense variant	-	NC_000002.12:g.142985115C>G	TOPMed,gnomAD
KYNU	Q16719	p.Ala254Glu	rs1275344728	missense variant	-	NC_000002.12:g.142985115C>A	TOPMed,gnomAD
KYNU	Q16719	p.Val255Leu	rs774104057	missense variant	-	NC_000002.12:g.142985117G>C	ExAC,gnomAD
KYNU	Q16719	p.Gly256Ter	rs1297011271	stop gained	-	NC_000002.12:g.142985120G>T	TOPMed,gnomAD
KYNU	Q16719	p.Gly256Arg	rs1297011271	missense variant	-	NC_000002.12:g.142985120G>A	TOPMed,gnomAD
KYNU	Q16719	p.Asn257Asp	rs1459120531	missense variant	-	NC_000002.12:g.142985123A>G	TOPMed
KYNU	Q16719	p.Asn257Lys	rs745624106	missense variant	-	NC_000002.12:g.142985125T>G	ExAC,gnomAD
KYNU	Q16719	p.Val258Phe	rs772019551	missense variant	-	NC_000002.12:g.142985126G>T	ExAC,gnomAD
KYNU	Q16719	p.Val258Ala	rs376794557	missense variant	-	NC_000002.12:g.142985127T>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Tyr261Cys	rs369069974	missense variant	-	NC_000002.12:g.142985136A>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.His263Arg	rs1458654786	missense variant	-	NC_000002.12:g.142985142A>G	TOPMed
KYNU	Q16719	p.His263Tyr	rs763659835	missense variant	-	NC_000002.12:g.142985141C>T	ExAC,gnomAD
KYNU	Q16719	p.Asp264Gly	rs1395636834	missense variant	-	NC_000002.12:g.142985145A>G	gnomAD
KYNU	Q16719	p.Trp265Ter	COSM1528343	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.142985148G>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Trp265Ser	rs776207207	missense variant	-	NC_000002.12:g.142985148G>C	ExAC,gnomAD
KYNU	Q16719	p.Gly266Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142985150G>A	NCI-TCGA
KYNU	Q16719	p.Val267Ala	rs765735410	missense variant	-	NC_000002.12:g.142985154T>C	ExAC,gnomAD
KYNU	Q16719	p.Val267Gly	rs765735410	missense variant	-	NC_000002.12:g.142985154T>G	ExAC,gnomAD
KYNU	Q16719	p.Ala270Pro	rs750846895	missense variant	-	NC_000002.12:g.142985162G>C	ExAC
KYNU	Q16719	p.Cys271Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142985166G>C	NCI-TCGA
KYNU	Q16719	p.Trp272Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142985169G>C	NCI-TCGA
KYNU	Q16719	p.Cys273Tyr	rs1421825181	missense variant	-	NC_000002.12:g.142985172G>A	TOPMed,gnomAD
KYNU	Q16719	p.Cys273Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142985172G>T	NCI-TCGA
KYNU	Q16719	p.Tyr275His	rs1242395973	missense variant	-	NC_000002.12:g.142985177T>C	TOPMed
KYNU	Q16719	p.Lys276Arg	rs1463228910	missense variant	-	NC_000002.12:g.142985181A>G	gnomAD
KYNU	Q16719	p.Lys276Thr	COSM282333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.142985181A>C	NCI-TCGA Cosmic
KYNU	Q16719	p.Asn279His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142985954A>C	NCI-TCGA
KYNU	Q16719	p.Gly281Val	rs752062234	missense variant	-	NC_000002.12:g.142985961G>T	ExAC,gnomAD
KYNU	Q16719	p.Ala282Val	rs149755270	missense variant	-	NC_000002.12:g.142985964C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Gly283Glu	rs767872659	missense variant	-	NC_000002.12:g.142985967G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile285Met	rs751519366	missense variant	-	NC_000002.12:g.142985974T>G	TOPMed
KYNU	Q16719	p.Ile285Val	rs898473015	missense variant	-	NC_000002.12:g.142985972A>G	TOPMed,gnomAD
KYNU	Q16719	p.Gly287Asp	rs1246433975	missense variant	-	NC_000002.12:g.142985979G>A	gnomAD
KYNU	Q16719	p.Gly287Asp	rs1246433975	missense variant	-	NC_000002.12:g.142985979G>A	NCI-TCGA
KYNU	Q16719	p.Phe289Leu	rs754059081	missense variant	-	NC_000002.12:g.142985984T>C	ExAC,gnomAD
KYNU	Q16719	p.Ile290Leu	rs758250680	missense variant	-	NC_000002.12:g.142985987A>C	ExAC,gnomAD
KYNU	Q16719	p.His291Asp	rs779878611	missense variant	-	NC_000002.12:g.142985990C>G	ExAC,gnomAD
KYNU	Q16719	p.Glu292Gly	rs576933121	missense variant	-	NC_000002.12:g.142985994A>G	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.His294Arg	rs1255539529	missense variant	-	NC_000002.12:g.142986000A>G	TOPMed,gnomAD
KYNU	Q16719	p.His296Arg	rs1178684440	missense variant	-	NC_000002.12:g.142986006A>G	gnomAD
KYNU	Q16719	p.Thr297Met	rs544190058	missense variant	-	NC_000002.12:g.142986009C>T	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile298Val	rs1212547849	missense variant	-	NC_000002.12:g.142986011A>G	TOPMed
KYNU	Q16719	p.Lys299Glu	rs769359100	missense variant	-	NC_000002.12:g.142986014A>G	ExAC,gnomAD
KYNU	Q16719	p.Pro300Leu	rs907281379	missense variant	-	NC_000002.12:g.142986018C>T	TOPMed
KYNU	Q16719	p.Pro300Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.142986017C>T	NCI-TCGA
KYNU	Q16719	p.Ala301Val	rs777913012	missense variant	-	NC_000002.12:g.142986021C>T	TOPMed,gnomAD
KYNU	Q16719	p.Val303Leu	rs1340815611	missense variant	-	NC_000002.12:g.143029631G>C	gnomAD
KYNU	Q16719	p.Gly304Glu	COSM4898224	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143029635G>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Phe306LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.143029640T>-	NCI-TCGA
KYNU	Q16719	p.His308Leu	rs758020532	missense variant	-	NC_000002.12:g.143029647A>T	ExAC,gnomAD
KYNU	Q16719	p.His308Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143029646C>T	NCI-TCGA
KYNU	Q16719	p.Ser311Gly	rs200565083	missense variant	-	NC_000002.12:g.143029655A>G	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Lys315Arg	rs1355717395	missense variant	-	NC_000002.12:g.143029668A>G	gnomAD
KYNU	Q16719	p.Met316Val	rs1013609644	missense variant	-	NC_000002.12:g.143029670A>G	TOPMed
KYNU	Q16719	p.Met316Ile	COSM716523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143029672G>A	NCI-TCGA Cosmic
KYNU	Q16719	p.Met316Thr	rs1023661092	missense variant	-	NC_000002.12:g.143029671T>C	TOPMed
KYNU	Q16719	p.Asp317Tyr	rs1217252735	missense variant	-	NC_000002.12:g.143029673G>T	gnomAD
KYNU	Q16719	p.Asp317Gly	rs747383230	missense variant	-	NC_000002.12:g.143029674A>G	ExAC,gnomAD
KYNU	Q16719	p.Asn318Asp	rs1416836319	missense variant	-	NC_000002.12:g.143029676A>G	TOPMed
KYNU	Q16719	p.Gln321Arg	rs1346542753	missense variant	-	NC_000002.12:g.143033242A>G	TOPMed
KYNU	Q16719	p.Ile323Phe	rs539737850	missense variant	-	NC_000002.12:g.143033247A>T	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Pro324Leu	rs1315639837	missense variant	-	NC_000002.12:g.143033251C>T	TOPMed
KYNU	Q16719	p.Gly325Arg	rs757863674	missense variant	-	NC_000002.12:g.143033253G>A	ExAC,gnomAD
KYNU	Q16719	p.Val326Ile	rs1417877910	missense variant	-	NC_000002.12:g.143033256G>A	gnomAD
KYNU	Q16719	p.Cys327Phe	rs1399573657	missense variant	-	NC_000002.12:g.143033260G>T	TOPMed
KYNU	Q16719	p.Gly328Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143033263G>A	NCI-TCGA
KYNU	Q16719	p.Gly328Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.143033262G>T	NCI-TCGA
KYNU	Q16719	p.Arg330Gln	rs142934146	missense variant	-	NC_000002.12:g.143033269G>A	NCI-TCGA,NCI-TCGA Cosmic
KYNU	Q16719	p.Arg330Ter	rs779681494	stop gained	-	NC_000002.12:g.143033268C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg330Gln	rs142934146	missense variant	-	NC_000002.12:g.143033269G>A	ESP,gnomAD
KYNU	Q16719	p.Arg330Ter	rs779681494	stop gained	-	NC_000002.12:g.143033268C>T	NCI-TCGA,NCI-TCGA Cosmic
KYNU	Q16719	p.Ser332Leu	rs751206018	missense variant	-	NC_000002.12:g.143033275C>T	ExAC,gnomAD
KYNU	Q16719	p.Ser332LysPheSerTerUnkUnk	COSM1399781	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.143033272_143033273TT>-	NCI-TCGA Cosmic
KYNU	Q16719	p.Pro334Arg	rs367959783	missense variant	-	NC_000002.12:g.143033281C>G	ESP,ExAC,gnomAD
KYNU	Q16719	p.Pro334Ser	rs374687401	missense variant	-	NC_000002.12:g.143033280C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro334Leu	COSM3567320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143033281C>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Pro335Thr	rs1281114078	missense variant	-	NC_000002.12:g.143033283C>A	gnomAD
KYNU	Q16719	p.Ile336Val	rs1371036406	missense variant	-	NC_000002.12:g.143033286A>G	gnomAD
KYNU	Q16719	p.Leu337Phe	rs374836063	missense variant	-	NC_000002.12:g.143033291G>C	ESP,ExAC,gnomAD
KYNU	Q16719	p.Leu337Val	rs1220875148	missense variant	-	NC_000002.12:g.143033289T>G	gnomAD
KYNU	Q16719	p.Leu338Trp	rs1311160628	missense variant	-	NC_000002.12:g.143033293T>G	gnomAD
KYNU	Q16719	p.Ser341Ala	rs778293782	missense variant	-	NC_000002.12:g.143033301T>G	ExAC,gnomAD
KYNU	Q16719	p.Ser341Phe	rs1443311315	missense variant	-	NC_000002.12:g.143033302C>T	TOPMed
KYNU	Q16719	p.His343Arg	rs749333966	missense variant	-	NC_000002.12:g.143033308A>G	ExAC,gnomAD
KYNU	Q16719	p.Ala344Thr	rs369074720	missense variant	-	NC_000002.12:g.143033310G>A	ESP,TOPMed
KYNU	Q16719	p.Ser345Arg	rs771131526	missense variant	-	NC_000002.12:g.143033315T>A	ExAC,gnomAD
KYNU	Q16719	p.Leu346Ser	rs372960169	missense variant	-	NC_000002.12:g.143033317T>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile348Phe	rs932332112	missense variant	-	NC_000002.12:g.143040428A>T	TOPMed
KYNU	Q16719	p.Ile348Val	rs932332112	missense variant	-	NC_000002.12:g.143040428A>G	TOPMed
KYNU	Q16719	p.Phe349Val	rs1422704925	missense variant	-	NC_000002.12:g.143040431T>G	gnomAD
KYNU	Q16719	p.Phe349Ter	RCV000520521	frameshift	-	NC_000002.12:g.143040431_143040437del	ClinVar
KYNU	Q16719	p.Phe349Ter	RCV000496114	frameshift	-	NC_000002.12:g.143040431_143040437del	ClinVar
KYNU	Q16719	p.Phe349Ter	RCV000505812	frameshift	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (VCRL2)	NC_000002.12:g.143040431_143040437del	ClinVar
KYNU	Q16719	p.Ala352Val	rs772449363	missense variant	-	NC_000002.12:g.143040441C>T	NCI-TCGA
KYNU	Q16719	p.Ala352Glu	rs772449363	missense variant	-	NC_000002.12:g.143040441C>A	ExAC,TOPMed
KYNU	Q16719	p.Ala352Val	rs772449363	missense variant	-	NC_000002.12:g.143040441C>T	ExAC,TOPMed
KYNU	Q16719	p.Lys355Thr	rs537147146	missense variant	-	NC_000002.12:g.143040450A>C	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Ala356Glu	rs555569996	missense variant	-	NC_000002.12:g.143040453C>A	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Arg358Gln	rs377612575	missense variant	-	NC_000002.12:g.143040459G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg358Trp	rs140239671	missense variant	-	NC_000002.12:g.143040458C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg358Gln	rs377612575	missense variant	-	NC_000002.12:g.143040459G>A	NCI-TCGA,NCI-TCGA Cosmic
KYNU	Q16719	p.Arg358Trp	rs140239671	missense variant	-	NC_000002.12:g.143040458C>T	NCI-TCGA,NCI-TCGA Cosmic
KYNU	Q16719	p.Ser361IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.143040460_143040461insA	NCI-TCGA
KYNU	Q16719	p.Thr365Pro	rs1321390594	missense variant	-	NC_000002.12:g.143040479A>C	TOPMed
KYNU	Q16719	p.Tyr367Cys	rs573910765	missense variant	-	NC_000002.12:g.143040486A>G	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Leu368Val	rs1192710838	missense variant	-	NC_000002.12:g.143040488C>G	gnomAD
KYNU	Q16719	p.Leu368Val	rs1192710838	missense variant	-	NC_000002.12:g.143040488C>G	NCI-TCGA Cosmic
KYNU	Q16719	p.Glu369Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143040492A>T	NCI-TCGA
KYNU	Q16719	p.Leu371Pro	rs1240633826	missense variant	-	NC_000002.12:g.143040498T>C	TOPMed,gnomAD
KYNU	Q16719	p.Ile372Val	rs767089136	missense variant	-	NC_000002.12:g.143040500A>G	ExAC,gnomAD
KYNU	Q16719	p.Lys373Glu	rs1182196513	missense variant	-	NC_000002.12:g.143040503A>G	TOPMed,gnomAD
KYNU	Q16719	p.Lys373Arg	rs752390021	missense variant	-	NC_000002.12:g.143040504A>G	ExAC,gnomAD
KYNU	Q16719	p.His374Tyr	rs1296112689	missense variant	-	NC_000002.12:g.143040506C>T	TOPMed
KYNU	Q16719	p.His374Arg	rs1440973002	missense variant	-	NC_000002.12:g.143040507A>G	TOPMed
KYNU	Q16719	p.Asn375Ile	rs1359345540	missense variant	-	NC_000002.12:g.143040510A>T	TOPMed
KYNU	Q16719	p.Asn375Asp	rs1160444700	missense variant	-	NC_000002.12:g.143040509A>G	gnomAD
KYNU	Q16719	p.Tyr376His	rs1360602335	missense variant	-	NC_000002.12:g.143040512T>C	gnomAD
KYNU	Q16719	p.Tyr376Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143040513A>G	NCI-TCGA
KYNU	Q16719	p.Gly377Asp	rs1335674908	missense variant	-	NC_000002.12:g.143040516G>A	TOPMed
KYNU	Q16719	p.Lys378Thr	rs756492868	missense variant	-	NC_000002.12:g.143040519A>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys384Arg	rs764499772	missense variant	-	NC_000002.12:g.143040537A>G	ExAC,gnomAD
KYNU	Q16719	p.Lys384Asn	COSM1007106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143040538G>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Asn389Ser	rs1160467890	missense variant	-	NC_000002.12:g.143040552A>G	TOPMed
KYNU	Q16719	p.Ile390Val	rs754344264	missense variant	-	NC_000002.12:g.143040554A>G	ExAC,gnomAD
KYNU	Q16719	p.Pro393Leu	rs376044073	missense variant	-	NC_000002.12:g.143040564C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro393Ser	rs371441647	missense variant	-	NC_000002.12:g.143040563C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ser394Phe	rs969200898	missense variant	-	NC_000002.12:g.143040567C>T	TOPMed
KYNU	Q16719	p.His395Tyr	rs538855421	missense variant	-	NC_000002.12:g.143040569C>T	gnomAD
KYNU	Q16719	p.Val396Leu	rs758488765	missense variant	-	NC_000002.12:g.143040572G>T	ExAC,gnomAD
KYNU	Q16719	p.Arg399Trp	rs1354482334	missense variant	-	NC_000002.12:g.143040581C>T	TOPMed,gnomAD
KYNU	Q16719	p.Arg399Gln	rs780204087	missense variant	-	NC_000002.12:g.143040582G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg399Gln	rs780204087	missense variant	-	NC_000002.12:g.143040582G>A	NCI-TCGA,NCI-TCGA Cosmic
KYNU	Q16719	p.Gly400Ala	rs1282290421	missense variant	-	NC_000002.12:g.143040585G>C	TOPMed,gnomAD
KYNU	Q16719	p.Gly400Glu	rs1282290421	missense variant	-	NC_000002.12:g.143040585G>A	TOPMed,gnomAD
KYNU	Q16719	p.Cys401Tyr	rs769524086	missense variant	-	NC_000002.12:g.143040588G>A	ExAC,gnomAD
KYNU	Q16719	p.Cys401AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.143040582G>-	NCI-TCGA
KYNU	Q16719	p.Gln402Lys	rs1242286393	missense variant	-	NC_000002.12:g.143040590C>A	gnomAD
KYNU	Q16719	p.Leu403Ile	rs1442620289	missense variant	-	NC_000002.12:g.143040593C>A	TOPMed,gnomAD
KYNU	Q16719	p.Leu403Pro	rs773026391	missense variant	-	NC_000002.12:g.143040594T>C	ExAC,gnomAD
KYNU	Q16719	p.Thr404Ile	rs749041193	missense variant	-	NC_000002.12:g.143040597C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Thr404Ala	rs1380785963	missense variant	-	NC_000002.12:g.143040596A>G	gnomAD
KYNU	Q16719	p.Ile405Thr	rs1156233556	missense variant	-	NC_000002.12:g.143040600T>C	gnomAD
KYNU	Q16719	p.Thr406Pro	COSM3567321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143040602A>C	NCI-TCGA Cosmic
KYNU	Q16719	p.Thr406Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143040603C>T	NCI-TCGA
KYNU	Q16719	p.Ser408Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143040609C>T	NCI-TCGA
KYNU	Q16719	p.Pro410Ser	rs774216557	missense variant	-	NC_000002.12:g.143040614C>T	ExAC,gnomAD
KYNU	Q16719	p.Asn411Lys	rs978900105	missense variant	-	NC_000002.12:g.143040619C>G	TOPMed
KYNU	Q16719	p.Lys412Glu	rs9013	missense variant	-	NC_000002.12:g.143040620A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp413Val	COSM3836944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143040624A>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Val414Gly	rs775055128	missense variant	-	NC_000002.12:g.143040627T>G	ExAC,gnomAD
KYNU	Q16719	p.Val414Ile	rs767041730	missense variant	-	NC_000002.12:g.143040626G>A	ExAC,gnomAD
KYNU	Q16719	p.Val414Ala	COSM1007107	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143040627T>C	NCI-TCGA Cosmic
KYNU	Q16719	p.Phe415Leu	rs1333819022	missense variant	-	NC_000002.12:g.143040631C>A	gnomAD
KYNU	Q16719	p.Gln416Lys	rs1378252245	missense variant	-	NC_000002.12:g.143040632C>A	gnomAD
KYNU	Q16719	p.Glu417Lys	rs1238970757	missense variant	-	NC_000002.12:g.143040635G>A	gnomAD
KYNU	Q16719	p.Leu418Ile	rs1277793192	missense variant	-	NC_000002.12:g.143040638C>A	gnomAD
KYNU	Q16719	p.Leu418Gln	rs1347289337	missense variant	-	NC_000002.12:g.143040639T>A	gnomAD
KYNU	Q16719	p.Leu418Val	rs1277793192	missense variant	-	NC_000002.12:g.143040638C>G	gnomAD
KYNU	Q16719	p.Glu419Lys	rs1220033404	missense variant	-	NC_000002.12:g.143040641G>A	gnomAD
KYNU	Q16719	p.Arg421Gly	rs1404642186	missense variant	-	NC_000002.12:g.143040647A>G	TOPMed
KYNU	Q16719	p.Arg421Lys	rs760345727	missense variant	-	NC_000002.12:g.143040648G>A	ExAC,gnomAD
KYNU	Q16719	p.Arg421LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.143040641_143040642insA	NCI-TCGA
KYNU	Q16719	p.Val423Ala	rs763614648	missense variant	-	NC_000002.12:g.143040654T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val423Gly	rs763614648	missense variant	-	NC_000002.12:g.143040654T>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val424Ile	rs1245331631	missense variant	-	NC_000002.12:g.143040656G>A	gnomAD
KYNU	Q16719	p.Cys425Arg	rs1373990650	missense variant	-	NC_000002.12:g.143042047T>C	TOPMed,gnomAD
KYNU	Q16719	p.Asp426Val	rs1023288378	missense variant	-	NC_000002.12:g.143042051A>T	TOPMed,gnomAD
KYNU	Q16719	p.Asp426Tyr	COSM6087858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.143042050G>T	NCI-TCGA Cosmic
KYNU	Q16719	p.Lys427Arg	rs765680152	missense variant	-	NC_000002.12:g.143042054A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg428Trp	rs147475752	missense variant	-	NC_000002.12:g.143042056C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg428Gln	rs575964691	missense variant	-	NC_000002.12:g.143042057G>A	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg428Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143042056C>G	NCI-TCGA
KYNU	Q16719	p.Gly432Val	rs766753073	missense variant	-	NC_000002.12:g.143042069G>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Gly432Asp	rs766753073	missense variant	-	NC_000002.12:g.143042069G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Gly432Val	rs766753073	missense variant	-	NC_000002.12:g.143042069G>T	NCI-TCGA
KYNU	Q16719	p.Ile433Met	rs1279120108	missense variant	-	NC_000002.12:g.143042073T>G	gnomAD
KYNU	Q16719	p.Arg434Ter	rs150018564	stop gained	-	NC_000002.12:g.143042074C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg434Ter	rs150018564	stop gained	-	NC_000002.12:g.143042074C>T	NCI-TCGA
KYNU	Q16719	p.Arg434Gln	rs781396204	missense variant	-	NC_000002.12:g.143042075G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val435Ala	rs199546957	missense variant	-	NC_000002.12:g.143042078T>C	ExAC,gnomAD
KYNU	Q16719	p.Val435Met	rs1267030172	missense variant	-	NC_000002.12:g.143042077G>A	gnomAD
KYNU	Q16719	p.Pro439Ser	rs1391979281	missense variant	-	NC_000002.12:g.143042089C>T	gnomAD
KYNU	Q16719	p.Tyr441Cys	rs1489023975	missense variant	-	NC_000002.12:g.143042096A>G	gnomAD
KYNU	Q16719	p.Asn442Ser	rs1316515247	missense variant	-	NC_000002.12:g.143042099A>G	TOPMed
KYNU	Q16719	p.Ser443Tyr	rs778648586	missense variant	-	NC_000002.12:g.143042102C>A	ExAC,gnomAD
KYNU	Q16719	p.Ser443Tyr	rs778648586	missense variant	-	NC_000002.12:g.143042102C>A	NCI-TCGA
KYNU	Q16719	p.Ser443Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143042102C>T	NCI-TCGA
KYNU	Q16719	p.Asp446Gly	rs201260523	missense variant	-	NC_000002.12:g.143042111A>G	1000Genomes
KYNU	Q16719	p.Val447Ile	rs745624060	missense variant	-	NC_000002.12:g.143042113G>A	ExAC,gnomAD
KYNU	Q16719	p.Val447Ala	rs1191397775	missense variant	-	NC_000002.12:g.143042114T>C	TOPMed,gnomAD
KYNU	Q16719	p.Tyr448His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143042116T>C	NCI-TCGA
KYNU	Q16719	p.Phe450Cys	rs1442774855	missense variant	-	NC_000002.12:g.143042123T>G	gnomAD
KYNU	Q16719	p.Thr451Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143042126C>A	NCI-TCGA
KYNU	Q16719	p.Asn452His	rs1011900559	missense variant	-	NC_000002.12:g.143042128A>C	gnomAD
KYNU	Q16719	p.Asn452Ile	rs772071356	missense variant	-	NC_000002.12:g.143042129A>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asn452Ser	rs772071356	missense variant	-	NC_000002.12:g.143042129A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Leu453Arg	rs779801142	missense variant	-	NC_000002.12:g.143042132T>G	ExAC,gnomAD
KYNU	Q16719	p.Leu454Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143042134C>G	NCI-TCGA
KYNU	Q16719	p.Ser456Phe	rs768050641	missense variant	-	NC_000002.12:g.143042141C>T	ExAC,gnomAD
KYNU	Q16719	p.Ile457Val	rs776476388	missense variant	-	NC_000002.12:g.143042143A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile457Thr	rs747776654	missense variant	-	NC_000002.12:g.143042144T>C	ExAC,gnomAD
KYNU	Q16719	p.Leu458Phe	rs770320154	missense variant	-	NC_000002.12:g.143042146C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Leu458Ile	rs770320154	missense variant	-	NC_000002.12:g.143042146C>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp459His	rs374401375	missense variant	-	NC_000002.12:g.143042149G>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp459Asn	rs374401375	missense variant	-	NC_000002.12:g.143042149G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp459Tyr	rs374401375	missense variant	-	NC_000002.12:g.143042149G>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ser460Phe	rs1340907157	missense variant	-	NC_000002.12:g.143042153C>T	gnomAD
KYNU	Q16719	p.Ala461Val	rs906103747	missense variant	-	NC_000002.12:g.143042156C>T	gnomAD
KYNU	Q16719	p.Ala461Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143042155G>A	NCI-TCGA
KYNU	Q16719	p.Glu462Asp	rs774652784	missense variant	-	NC_000002.12:g.143042160A>C	ExAC,gnomAD
KYNU	Q16719	p.Thr463Ala	rs200448158	missense variant	-	NC_000002.12:g.143042161A>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys464Glu	rs1445922282	missense variant	-	NC_000002.12:g.143042164A>G	TOPMed
KYNU	Q16719	p.Asn465Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.143042169T>G	NCI-TCGA
KYNU	Q16719	p.Asn465LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.143042162_143042163insA	NCI-TCGA
KYNU	Q16719	p.Ter466Gln	rs1259631263	stop lost	-	NC_000002.12:g.143042170T>C	gnomAD
KYNU	Q16719	p.Glu2Gly	rs1278323246	missense variant	-	NC_000002.12:g.142885372A>G	TOPMed
KYNU	Q16719	p.Glu2Lys	rs1225791141	missense variant	-	NC_000002.12:g.142885371G>A	gnomAD
KYNU	Q16719	p.Pro3His	rs1267770545	missense variant	-	NC_000002.12:g.142885375C>A	gnomAD
KYNU	Q16719	p.Ser4Ter	rs757769470	stop gained	-	NC_000002.12:g.142885378C>A	ExAC,gnomAD
KYNU	Q16719	p.Leu6Pro	rs1213214051	missense variant	-	NC_000002.12:g.142885384T>C	gnomAD
KYNU	Q16719	p.Glu7Ter	rs1251337220	stop gained	-	NC_000002.12:g.142885386G>T	gnomAD
KYNU	Q16719	p.Leu8Pro	rs765348171	missense variant	-	NC_000002.12:g.142885390T>C	ExAC,gnomAD
KYNU	Q16719	p.Pro9Leu	rs376052980	missense variant	-	NC_000002.12:g.142885393C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro9Ser	rs750469909	missense variant	-	NC_000002.12:g.142885392C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp11Asn	rs747191524	missense variant	-	NC_000002.12:g.142885398G>A	ExAC,gnomAD
KYNU	Q16719	p.Thr12Ala	rs1369056083	missense variant	-	NC_000002.12:g.142885401A>G	TOPMed,gnomAD
KYNU	Q16719	p.Val13Ala	rs1460438773	missense variant	-	NC_000002.12:g.142885405T>C	gnomAD
KYNU	Q16719	p.Gln14Ter	rs1305968991	stop gained	-	NC_000002.12:g.142885407C>T	TOPMed
KYNU	Q16719	p.Arg15Leu	rs200861229	missense variant	-	NC_000002.12:g.142885411G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg15Cys	rs1031922730	missense variant	-	NC_000002.12:g.142885410C>T	TOPMed
KYNU	Q16719	p.Arg15His	rs200861229	missense variant	-	NC_000002.12:g.142885411G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala17Val	rs770963937	missense variant	-	NC_000002.12:g.142885417C>T	ExAC,gnomAD
KYNU	Q16719	p.Ala17Glu	rs770963937	missense variant	-	NC_000002.12:g.142885417C>A	ExAC,gnomAD
KYNU	Q16719	p.Leu20Phe	rs745395140	missense variant	-	NC_000002.12:g.142885425C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys21Glu	rs1160123157	missense variant	-	NC_000002.12:g.142885428A>G	TOPMed
KYNU	Q16719	p.Lys21Thr	rs957303861	missense variant	-	NC_000002.12:g.142885429A>C	TOPMed
KYNU	Q16719	p.Cys22Arg	rs775287103	missense variant	-	NC_000002.12:g.142885431T>C	ExAC,gnomAD
KYNU	Q16719	p.Cys22Ser	rs760372138	missense variant	-	NC_000002.12:g.142885432G>C	ExAC,gnomAD
KYNU	Q16719	p.Pro24Ser	rs141597680	missense variant	-	NC_000002.12:g.142885437C>T	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Thr25Ala	rs1209537470	missense variant	-	NC_000002.12:g.142885440A>G	gnomAD
KYNU	Q16719	p.Thr25Met	rs199895914	missense variant	-	NC_000002.12:g.142885441C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Thr25Lys	rs199895914	missense variant	-	NC_000002.12:g.142885441C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg28Thr	rs766375772	missense variant	-	NC_000002.12:g.142885450G>C	ExAC,gnomAD
KYNU	Q16719	p.Arg28Lys	rs766375772	missense variant	-	NC_000002.12:g.142885450G>A	ExAC,gnomAD
KYNU	Q16719	p.Val29Met	rs751792034	missense variant	-	NC_000002.12:g.142885452G>A	ExAC,gnomAD
KYNU	Q16719	p.Leu31Phe	rs1185754984	missense variant	-	NC_000002.12:g.142885458C>T	gnomAD
KYNU	Q16719	p.Asp34His	rs1157898315	missense variant	-	NC_000002.12:g.142885467G>C	gnomAD
KYNU	Q16719	p.Asp34Gly	rs1255953822	missense variant	-	NC_000002.12:g.142885468A>G	TOPMed
KYNU	Q16719	p.Glu36Lys	rs753701829	missense variant	-	NC_000002.12:g.142885473G>A	ExAC,gnomAD
KYNU	Q16719	p.Glu36Ter	rs753701829	stop gained	-	NC_000002.12:g.142885473G>T	ExAC,gnomAD
KYNU	Q16719	p.Lys38Thr	rs1305007193	missense variant	-	NC_000002.12:g.142885480A>C	TOPMed,gnomAD
KYNU	Q16719	p.Arg40Lys	rs779009664	missense variant	-	NC_000002.12:g.142885486G>A	ExAC,gnomAD
KYNU	Q16719	p.His41Tyr	rs146238174	missense variant	-	NC_000002.12:g.142885488C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.His41Leu	rs1203636425	missense variant	-	NC_000002.12:g.142885489A>T	TOPMed
KYNU	Q16719	p.Phe42Leu	rs779601985	missense variant	-	NC_000002.12:g.142885491T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg43Gly	rs746689071	missense variant	-	NC_000002.12:g.142885494A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Cys45Trp	rs1256331249	missense variant	-	NC_000002.12:g.142885502C>G	gnomAD
KYNU	Q16719	p.Phe46Leu	rs776106261	missense variant	-	NC_000002.12:g.142885503T>C	ExAC,gnomAD
KYNU	Q16719	p.Ile48Phe	rs762184984	missense variant	-	NC_000002.12:g.142885509A>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys50Thr	rs370934769	missense variant	-	NC_000002.12:g.142885516A>C	ESP
KYNU	Q16719	p.Lys50Glu	rs770083748	missense variant	-	NC_000002.12:g.142885515A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Gln52His	rs375522416	missense variant	-	NC_000002.12:g.142885523G>C	ESP,TOPMed,gnomAD
KYNU	Q16719	p.Gln52Lys	rs557224936	missense variant	-	NC_000002.12:g.142885521C>A	TOPMed
KYNU	Q16719	p.Asp53Glu	rs763444024	missense variant	-	NC_000002.12:g.142885526T>G	ExAC,gnomAD
KYNU	Q16719	p.Asp53Val	rs773708408	missense variant	-	NC_000002.12:g.142885525A>T	ExAC,gnomAD
KYNU	Q16719	p.Pro55Leu	rs751630031	missense variant	-	NC_000002.12:g.142885531C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro56Leu	rs535280440	missense variant	-	NC_000002.12:g.142885534C>T	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Pro56Gln	rs535280440	missense variant	-	NC_000002.12:g.142885534C>A	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Asp58Tyr	rs766361158	missense variant	-	NC_000002.12:g.142918611G>T	ExAC,gnomAD
KYNU	Q16719	p.Asp58Asn	rs766361158	missense variant	-	NC_000002.12:g.142918611G>A	ExAC,gnomAD
KYNU	Q16719	p.Asp58Val	rs751390957	missense variant	-	NC_000002.12:g.142918612A>T	ExAC,gnomAD
KYNU	Q16719	p.Asp58Gly	rs751390957	missense variant	-	NC_000002.12:g.142918612A>G	ExAC,gnomAD
KYNU	Q16719	p.Leu59Phe	rs1418071159	missense variant	-	NC_000002.12:g.142918616A>T	gnomAD
KYNU	Q16719	p.Ser60Leu	rs1407121968	missense variant	-	NC_000002.12:g.142918618C>T	gnomAD
KYNU	Q16719	p.Asn63Ser	rs1393856017	missense variant	-	NC_000002.12:g.142918627A>G	gnomAD
KYNU	Q16719	p.Asn63Lys	rs201592797	missense variant	-	NC_000002.12:g.142918628T>G	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys64Glu	rs1322808333	missense variant	-	NC_000002.12:g.142918629A>G	TOPMed,gnomAD
KYNU	Q16719	p.Asp65Asn	rs780559952	missense variant	-	NC_000002.12:g.142918632G>A	ExAC,gnomAD
KYNU	Q16719	p.Glu66Gly	rs910841644	missense variant	-	NC_000002.12:g.142918636A>G	TOPMed,gnomAD
KYNU	Q16719	p.Ala68Thr	rs1381316973	missense variant	-	NC_000002.12:g.142918641G>A	gnomAD
KYNU	Q16719	p.Ile69Val	rs777366701	missense variant	-	NC_000002.12:g.142918644A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile69Phe	rs777366701	missense variant	-	NC_000002.12:g.142918644A>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Tyr70Cys	rs1332040911	missense variant	-	NC_000002.12:g.142918648A>G	gnomAD
KYNU	Q16719	p.Tyr70Ter	rs749679620	stop gained	-	NC_000002.12:g.142918649T>A	ExAC,gnomAD
KYNU	Q16719	p.Asn74Ser	rs1447933131	missense variant	-	NC_000002.12:g.142918660A>G	gnomAD
KYNU	Q16719	p.Gln79Pro	rs774927973	missense variant	-	NC_000002.12:g.142918675A>C	ExAC,gnomAD
KYNU	Q16719	p.Pro80Arg	rs746357812	missense variant	-	NC_000002.12:g.142918678C>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro80Ser	rs1240840110	missense variant	-	NC_000002.12:g.142918677C>T	gnomAD
KYNU	Q16719	p.Lys84Arg	rs1417168611	missense variant	-	NC_000002.12:g.142918690A>G	gnomAD
KYNU	Q16719	p.Leu87Val	rs761016933	missense variant	-	NC_000002.12:g.142918698C>G	ExAC,gnomAD
KYNU	Q16719	p.Glu88Gln	rs1386001668	missense variant	-	NC_000002.12:g.142918701G>C	gnomAD
KYNU	Q16719	p.Glu89Lys	rs764440203	missense variant	-	NC_000002.12:g.142918704G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu89Gln	rs764440203	missense variant	-	NC_000002.12:g.142918704G>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu90Gln	rs776944258	missense variant	-	NC_000002.12:g.142918707G>C	ExAC
KYNU	Q16719	p.Asp92His	rs762818928	missense variant	-	NC_000002.12:g.142918713G>C	ExAC,gnomAD
KYNU	Q16719	p.Asp92Gly	rs1360718806	missense variant	-	NC_000002.12:g.142918714A>G	TOPMed,gnomAD
KYNU	Q16719	p.Lys93Asn	rs766018464	missense variant	-	NC_000002.12:g.142918718G>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala95Ser	rs199881067	missense variant	-	NC_000002.12:g.142918722G>T	1000Genomes,TOPMed,gnomAD
KYNU	Q16719	p.Ala95Thr	rs199881067	missense variant	-	NC_000002.12:g.142918722G>A	1000Genomes,TOPMed,gnomAD
KYNU	Q16719	p.Ala98Thr	rs760185735	missense variant	-	NC_000002.12:g.142927660G>A	ExAC,gnomAD
KYNU	Q16719	p.Tyr100Cys	rs753547596	missense variant	-	NC_000002.12:g.142927667A>G	ExAC,gnomAD
KYNU	Q16719	p.Val104Ala	rs1397196048	missense variant	-	NC_000002.12:g.142927679T>C	gnomAD
KYNU	Q16719	p.Gly105Ala	rs756839567	missense variant	-	NC_000002.12:g.142927682G>C	ExAC,gnomAD
KYNU	Q16719	p.Lys106Gln	rs1429420900	missense variant	-	NC_000002.12:g.142927684A>C	TOPMed
KYNU	Q16719	p.Arg107His	rs545230086	missense variant	-	NC_000002.12:g.142927688G>A	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Arg107Cys	rs373416306	missense variant	-	NC_000002.12:g.142927687C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro108Ser	rs1186246256	missense variant	-	NC_000002.12:g.142927690C>T	TOPMed,gnomAD
KYNU	Q16719	p.Pro108Leu	rs1043905236	missense variant	-	NC_000002.12:g.142927691C>T	TOPMed
KYNU	Q16719	p.Trp109Ser	rs780720490	missense variant	-	NC_000002.12:g.142927694G>C	ExAC,gnomAD
KYNU	Q16719	p.Gly112Arg	rs375973950	missense variant	-	NC_000002.12:g.142927702G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp113Asn	rs768919861	missense variant	-	NC_000002.12:g.142927705G>A	ExAC,gnomAD
KYNU	Q16719	p.Ser115Asn	rs142820434	missense variant	-	NC_000002.12:g.142927712G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile116Thr	rs369102028	missense variant	-	NC_000002.12:g.142927715T>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val117Ile	rs1265023242	missense variant	-	NC_000002.12:g.142927717G>A	TOPMed
KYNU	Q16719	p.Met120Thr	rs531153291	missense variant	-	NC_000002.12:g.142927727T>C	1000Genomes
KYNU	Q16719	p.Ile123Thr	rs775475961	missense variant	-	NC_000002.12:g.142927736T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala126Val	rs767925699	missense variant	-	NC_000002.12:g.142954813C>T	ExAC,gnomAD
KYNU	Q16719	p.Ala126Thr	rs755351641	missense variant	-	NC_000002.12:g.142954812G>A	ExAC,gnomAD
KYNU	Q16719	p.Asn127Ser	rs1038247589	missense variant	-	NC_000002.12:g.142954816A>G	TOPMed
KYNU	Q16719	p.Glu128Ala	rs756218666	missense variant	-	NC_000002.12:g.142954819A>C	ExAC,gnomAD
KYNU	Q16719	p.Glu130Ala	rs1161471911	missense variant	-	NC_000002.12:g.142954825A>C	TOPMed
KYNU	Q16719	p.Glu130Ter	rs868328176	stop gained	-	NC_000002.12:g.142954824G>T	gnomAD
KYNU	Q16719	p.Glu130Lys	rs868328176	missense variant	-	NC_000002.12:g.142954824G>A	gnomAD
KYNU	Q16719	p.Ile131Val	rs777899443	missense variant	-	NC_000002.12:g.142954827A>G	ExAC,gnomAD
KYNU	Q16719	p.Ala132Ser	rs749561053	missense variant	-	NC_000002.12:g.142954830G>T	ExAC,gnomAD
KYNU	Q16719	p.Thr138Ser	rs377046390	missense variant	-	NC_000002.12:g.142954849C>G	ESP,ExAC,gnomAD
KYNU	Q16719	p.Thr138Ile	rs377046390	missense variant	-	NC_000002.12:g.142954849C>T	ESP,ExAC,gnomAD
KYNU	Q16719	p.Val139Ile	rs1176253447	missense variant	-	NC_000002.12:g.142954851G>A	gnomAD
KYNU	Q16719	p.Leu141Ile	rs1248062805	missense variant	-	NC_000002.12:g.142954857T>A	gnomAD
KYNU	Q16719	p.His142Arg	rs776435144	missense variant	-	NC_000002.12:g.142954861A>G	ExAC,gnomAD
KYNU	Q16719	p.Leu143Ile	rs1396101483	missense variant	-	NC_000002.12:g.142954863C>A	gnomAD
KYNU	Q16719	p.Ser147Pro	rs779118861	missense variant	-	NC_000002.12:g.142956206T>C	ExAC,gnomAD
KYNU	Q16719	p.Phe148Cys	rs1180006688	missense variant	-	NC_000002.12:g.142956210T>G	TOPMed
KYNU	Q16719	p.Pro151Thr	rs754796046	missense variant	-	NC_000002.12:g.142956218C>A	ExAC,gnomAD
KYNU	Q16719	p.Thr152Met	rs146601376	missense variant	-	NC_000002.12:g.142956222C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro153Thr	rs1444489351	missense variant	-	NC_000002.12:g.142956224C>A	TOPMed
KYNU	Q16719	p.Pro153Gln	rs769737099	missense variant	-	NC_000002.12:g.142956225C>A	ExAC,gnomAD
KYNU	Q16719	p.Arg155Ter	rs777529766	stop gained	-	NC_000002.12:g.142956230C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg155Gln	rs748827582	missense variant	-	NC_000002.12:g.142956231G>A	ExAC,gnomAD
KYNU	Q16719	p.Tyr156Ter	rs758865880	stop gained	-	NC_000002.12:g.142956235T>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Tyr156Ter	RCV000505808	nonsense	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (VCRL2)	NC_000002.12:g.142956235T>A	ClinVar
KYNU	Q16719	p.Tyr156Ter	RCV000496184	nonsense	-	NC_000002.12:g.142956235T>A	ClinVar
KYNU	Q16719	p.Tyr156_Asn465del	VAR_080254	inframe_deletion	Vertebral, cardiac, renal, and limb defects syndrome 2 (VCRL2) [MIM:617661]	-	UniProt
KYNU	Q16719	p.Lys157Ile	rs966535456	missense variant	-	NC_000002.12:g.142956237A>T	TOPMed
KYNU	Q16719	p.Leu159Ile	rs1261672636	missense variant	-	NC_000002.12:g.142956242C>A	TOPMed,gnomAD
KYNU	Q16719	p.Leu160Pro	rs774217191	missense variant	-	NC_000002.12:g.142956246T>C	ExAC,gnomAD
KYNU	Q16719	p.Glu161Lys	rs759252207	missense variant	-	NC_000002.12:g.142956248G>A	ExAC,gnomAD
KYNU	Q16719	p.Ala164Ser	rs772375030	missense variant	-	NC_000002.12:g.142956257G>T	ExAC,gnomAD
KYNU	Q16719	p.Ala164Gly	rs1336326717	missense variant	-	NC_000002.12:g.142956258C>G	gnomAD
KYNU	Q16719	p.Phe165Leu	rs1272229882	missense variant	-	NC_000002.12:g.142956262C>A	gnomAD
KYNU	Q16719	p.Pro166Arg	rs760909545	missense variant	-	NC_000002.12:g.142956264C>G	ExAC,gnomAD
KYNU	Q16719	p.Ser167Cys	rs764685144	missense variant	-	NC_000002.12:g.142956267C>G	ExAC,gnomAD
KYNU	Q16719	p.His169Tyr	rs1372767383	missense variant	-	NC_000002.12:g.142956272C>T	TOPMed
KYNU	Q16719	p.Ala171Val	rs147928469	missense variant	-	NC_000002.12:g.142957645C>T	ESP,ExAC,gnomAD
KYNU	Q16719	p.Ile172Val	rs1160528820	missense variant	-	NC_000002.12:g.142957647A>G	gnomAD
KYNU	Q16719	p.Glu173Gly	rs201791037	missense variant	-	NC_000002.12:g.142957651A>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu173Asp	rs765350117	missense variant	-	NC_000002.12:g.142957652G>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ser174Ala	rs1296237289	missense variant	-	NC_000002.12:g.142957653T>G	gnomAD
KYNU	Q16719	p.Gly180Arg	rs373422189	missense variant	-	NC_000002.12:g.142957671G>A	ExAC,gnomAD
KYNU	Q16719	p.Ile183Thr	rs375813192	missense variant	-	NC_000002.12:g.142957681T>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu184Asp	rs1338201460	missense variant	-	NC_000002.12:g.142957685A>T	gnomAD
KYNU	Q16719	p.Ser186Asn	rs369993662	missense variant	-	NC_000002.12:g.142957690G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Met187Arg	rs1279826685	missense variant	-	NC_000002.12:g.142957693T>G	TOPMed,gnomAD
KYNU	Q16719	p.Arg188Pro	rs2304705	missense variant	-	NC_000002.12:g.142957696G>C	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg188Gln	RCV000148022	missense variant	-	NC_000002.12:g.142957696G>A	ClinVar
KYNU	Q16719	p.Arg188Gln	rs2304705	missense variant	-	NC_000002.12:g.142957696G>A	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg188Gln	rs2304705	missense variant	-	NC_000002.12:g.142957696G>A	UniProt,dbSNP
KYNU	Q16719	p.Arg188Gln	VAR_049724	missense variant	-	NC_000002.12:g.142957696G>A	UniProt
KYNU	Q16719	p.Arg188Trp	rs147103103	missense variant	-	NC_000002.12:g.142957695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys191Gln	rs1344164112	missense variant	-	NC_000002.12:g.142957704A>C	TOPMed
KYNU	Q16719	p.Pro192Ala	rs778954709	missense variant	-	NC_000002.12:g.142957707C>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Glu194Gln	rs375714486	missense variant	-	NC_000002.12:g.142957713G>C	ESP,ExAC,gnomAD
KYNU	Q16719	p.Glu194Lys	rs375714486	missense variant	-	NC_000002.12:g.142957713G>A	ESP,ExAC,gnomAD
KYNU	Q16719	p.Gly195Glu	rs774265130	missense variant	-	NC_000002.12:g.142960625G>A	ExAC,gnomAD
KYNU	Q16719	p.Glu197Gly	rs1230304188	missense variant	-	NC_000002.12:g.142960631A>G	gnomAD
KYNU	Q16719	p.Thr198Ala	RCV000148021	missense variant	Hydroxykynureninuria	NC_000002.12:g.142960633A>G	ClinVar
KYNU	Q16719	p.Thr198Ala	rs606231307	missense variant	-	NC_000002.12:g.142960633A>G	ExAC,gnomAD
KYNU	Q16719	p.Thr198Ile	rs1317392728	missense variant	-	NC_000002.12:g.142960634C>T	gnomAD
KYNU	Q16719	p.Arg200Ile	rs1228998959	missense variant	-	NC_000002.12:g.142960640G>T	TOPMed
KYNU	Q16719	p.Ile201Thr	rs761707999	missense variant	-	NC_000002.12:g.142960643T>C	ExAC,gnomAD
KYNU	Q16719	p.Ile201Met	rs1275353050	missense variant	-	NC_000002.12:g.142960644A>G	TOPMed,gnomAD
KYNU	Q16719	p.Glu206Lys	rs765122670	missense variant	-	NC_000002.12:g.142960657G>A	ExAC,gnomAD
KYNU	Q16719	p.Val207Leu	rs1226411007	missense variant	-	NC_000002.12:g.142960660G>T	TOPMed
KYNU	Q16719	p.Ile208Asn	rs1265027337	missense variant	-	NC_000002.12:g.142960664T>A	gnomAD
KYNU	Q16719	p.Glu209Gly	rs762774031	missense variant	-	NC_000002.12:g.142960667A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys210Asn	rs575687340	missense variant	-	NC_000002.12:g.142960671G>C	1000Genomes,TOPMed,gnomAD
KYNU	Q16719	p.Lys210Asn	rs575687340	missense variant	-	NC_000002.12:g.142960671G>T	1000Genomes,TOPMed,gnomAD
KYNU	Q16719	p.Lys210Glu	rs1325043411	missense variant	-	NC_000002.12:g.142960669A>G	TOPMed
KYNU	Q16719	p.Glu211Lys	rs1422213337	missense variant	-	NC_000002.12:g.142960672G>A	gnomAD
KYNU	Q16719	p.Asp213Asn	rs373954314	missense variant	-	NC_000002.12:g.142960678G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile215Val	rs543258746	missense variant	-	NC_000002.12:g.142960684A>G	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile215Thr	rs780834721	missense variant	-	NC_000002.12:g.142960685T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile215Phe	rs543258746	missense variant	-	NC_000002.12:g.142960684A>T	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val217Ala	rs752277959	missense variant	-	NC_000002.12:g.142960691T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile218Val	rs980182847	missense variant	-	NC_000002.12:g.142960693A>G	TOPMed
KYNU	Q16719	p.Ile218Thr	rs1389033485	missense variant	-	NC_000002.12:g.142960694T>C	gnomAD
KYNU	Q16719	p.Val223Ala	rs756530181	missense variant	-	NC_000002.12:g.142960709T>C	ExAC,gnomAD
KYNU	Q16719	p.Phe225Ser	rs777979926	missense variant	-	NC_000002.12:g.142960715T>C	ExAC,gnomAD
KYNU	Q16719	p.Phe225Leu	rs1339926248	missense variant	-	NC_000002.12:g.142960716T>G	gnomAD
KYNU	Q16719	p.Tyr226His	rs1196979253	missense variant	-	NC_000002.12:g.142960717T>C	TOPMed
KYNU	Q16719	p.Thr227Ala	rs1372805256	missense variant	-	NC_000002.12:g.142960720A>G	gnomAD
KYNU	Q16719	p.Gln229Lys	rs771373782	missense variant	-	NC_000002.12:g.142960726C>A	ExAC,gnomAD
KYNU	Q16719	p.Gln229Ter	rs771373782	stop gained	-	NC_000002.12:g.142960726C>T	ExAC,gnomAD
KYNU	Q16719	p.Pro234Ser	rs745961677	missense variant	-	NC_000002.12:g.142960741C>T	ExAC,gnomAD
KYNU	Q16719	p.Thr237Lys	rs1205632267	missense variant	-	NC_000002.12:g.142960751C>A	gnomAD
KYNU	Q16719	p.Ala239Val	rs199529102	missense variant	-	NC_000002.12:g.142960757C>T	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala239Ser	rs1262438307	missense variant	-	NC_000002.12:g.142960756G>T	gnomAD
KYNU	Q16719	p.Gly240Val	rs1189391093	missense variant	-	NC_000002.12:g.142960760G>T	gnomAD
KYNU	Q16719	p.Gln241Lys	rs372047239	missense variant	-	NC_000002.12:g.142960762C>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala242Val	rs141632644	missense variant	-	NC_000002.12:g.142960766C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala242Gly	rs141632644	missense variant	-	NC_000002.12:g.142960766C>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala242Thr	rs1162278008	missense variant	-	NC_000002.12:g.142960765G>A	gnomAD
KYNU	Q16719	p.Lys243Glu	rs766249586	missense variant	-	NC_000002.12:g.142960768A>G	ExAC,gnomAD
KYNU	Q16719	p.Gly244Val	rs1480730349	missense variant	-	NC_000002.12:g.142985085G>T	TOPMed,gnomAD
KYNU	Q16719	p.Cys245Trp	rs137982021	missense variant	-	NC_000002.12:g.142985089T>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Tyr246His	rs751013713	missense variant	-	NC_000002.12:g.142985090T>C	ExAC,gnomAD
KYNU	Q16719	p.Tyr246Cys	rs758940169	missense variant	-	NC_000002.12:g.142985091A>G	ExAC,gnomAD
KYNU	Q16719	p.Val247Ala	rs1237899313	missense variant	-	NC_000002.12:g.142985094T>C	TOPMed
KYNU	Q16719	p.Gly248Asp	rs747104364	missense variant	-	NC_000002.12:g.142985097G>A	ExAC,gnomAD
KYNU	Q16719	p.Gly248Val	rs747104364	missense variant	-	NC_000002.12:g.142985097G>T	ExAC,gnomAD
KYNU	Q16719	p.Phe249Ser	rs1466289057	missense variant	-	NC_000002.12:g.142985100T>C	TOPMed,gnomAD
KYNU	Q16719	p.Phe249Leu	rs1356361964	missense variant	-	NC_000002.12:g.142985099T>C	gnomAD
KYNU	Q16719	p.His253Pro	rs372144733	missense variant	-	NC_000002.12:g.142985112A>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.His253Arg	rs372144733	missense variant	-	NC_000002.12:g.142985112A>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ala254Gly	rs1275344728	missense variant	-	NC_000002.12:g.142985115C>G	TOPMed,gnomAD
KYNU	Q16719	p.Ala254Glu	rs1275344728	missense variant	-	NC_000002.12:g.142985115C>A	TOPMed,gnomAD
KYNU	Q16719	p.Val255Leu	rs774104057	missense variant	-	NC_000002.12:g.142985117G>C	ExAC,gnomAD
KYNU	Q16719	p.Gly256Arg	rs1297011271	missense variant	-	NC_000002.12:g.142985120G>A	TOPMed,gnomAD
KYNU	Q16719	p.Gly256Ter	rs1297011271	stop gained	-	NC_000002.12:g.142985120G>T	TOPMed,gnomAD
KYNU	Q16719	p.Asn257Lys	rs745624106	missense variant	-	NC_000002.12:g.142985125T>G	ExAC,gnomAD
KYNU	Q16719	p.Asn257Asp	rs1459120531	missense variant	-	NC_000002.12:g.142985123A>G	TOPMed
KYNU	Q16719	p.Val258Ala	rs376794557	missense variant	-	NC_000002.12:g.142985127T>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val258Phe	rs772019551	missense variant	-	NC_000002.12:g.142985126G>T	ExAC,gnomAD
KYNU	Q16719	p.Tyr261Cys	rs369069974	missense variant	-	NC_000002.12:g.142985136A>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.His263Arg	rs1458654786	missense variant	-	NC_000002.12:g.142985142A>G	TOPMed
KYNU	Q16719	p.His263Tyr	rs763659835	missense variant	-	NC_000002.12:g.142985141C>T	ExAC,gnomAD
KYNU	Q16719	p.Asp264Gly	rs1395636834	missense variant	-	NC_000002.12:g.142985145A>G	gnomAD
KYNU	Q16719	p.Trp265Ser	rs776207207	missense variant	-	NC_000002.12:g.142985148G>C	ExAC,gnomAD
KYNU	Q16719	p.Val267Gly	rs765735410	missense variant	-	NC_000002.12:g.142985154T>G	ExAC,gnomAD
KYNU	Q16719	p.Val267Ala	rs765735410	missense variant	-	NC_000002.12:g.142985154T>C	ExAC,gnomAD
KYNU	Q16719	p.Ala270Pro	rs750846895	missense variant	-	NC_000002.12:g.142985162G>C	ExAC
KYNU	Q16719	p.Cys273Tyr	rs1421825181	missense variant	-	NC_000002.12:g.142985172G>A	TOPMed,gnomAD
KYNU	Q16719	p.Tyr275His	rs1242395973	missense variant	-	NC_000002.12:g.142985177T>C	TOPMed
KYNU	Q16719	p.Lys276Arg	rs1463228910	missense variant	-	NC_000002.12:g.142985181A>G	gnomAD
KYNU	Q16719	p.Gly281Val	rs752062234	missense variant	-	NC_000002.12:g.142985961G>T	ExAC,gnomAD
KYNU	Q16719	p.Ala282Val	rs149755270	missense variant	-	NC_000002.12:g.142985964C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Gly283Glu	rs767872659	missense variant	-	NC_000002.12:g.142985967G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile285Met	rs751519366	missense variant	-	NC_000002.12:g.142985974T>G	TOPMed
KYNU	Q16719	p.Ile285Val	rs898473015	missense variant	-	NC_000002.12:g.142985972A>G	TOPMed,gnomAD
KYNU	Q16719	p.Gly287Asp	rs1246433975	missense variant	-	NC_000002.12:g.142985979G>A	gnomAD
KYNU	Q16719	p.Phe289Leu	rs754059081	missense variant	-	NC_000002.12:g.142985984T>C	ExAC,gnomAD
KYNU	Q16719	p.Ile290Leu	rs758250680	missense variant	-	NC_000002.12:g.142985987A>C	ExAC,gnomAD
KYNU	Q16719	p.His291Asp	rs779878611	missense variant	-	NC_000002.12:g.142985990C>G	ExAC,gnomAD
KYNU	Q16719	p.Glu292Gly	rs576933121	missense variant	-	NC_000002.12:g.142985994A>G	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.His294Arg	rs1255539529	missense variant	-	NC_000002.12:g.142986000A>G	TOPMed,gnomAD
KYNU	Q16719	p.His296Arg	rs1178684440	missense variant	-	NC_000002.12:g.142986006A>G	gnomAD
KYNU	Q16719	p.Thr297Met	rs544190058	missense variant	-	NC_000002.12:g.142986009C>T	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile298Val	rs1212547849	missense variant	-	NC_000002.12:g.142986011A>G	TOPMed
KYNU	Q16719	p.Lys299Glu	rs769359100	missense variant	-	NC_000002.12:g.142986014A>G	ExAC,gnomAD
KYNU	Q16719	p.Pro300Leu	rs907281379	missense variant	-	NC_000002.12:g.142986018C>T	TOPMed
KYNU	Q16719	p.Ala301Val	rs777913012	missense variant	-	NC_000002.12:g.142986021C>T	TOPMed,gnomAD
KYNU	Q16719	p.Val303Leu	rs1340815611	missense variant	-	NC_000002.12:g.143029631G>C	gnomAD
KYNU	Q16719	p.His308Leu	rs758020532	missense variant	-	NC_000002.12:g.143029647A>T	ExAC,gnomAD
KYNU	Q16719	p.Ser311Gly	rs200565083	missense variant	-	NC_000002.12:g.143029655A>G	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Lys315Arg	rs1355717395	missense variant	-	NC_000002.12:g.143029668A>G	gnomAD
KYNU	Q16719	p.Met316Val	rs1013609644	missense variant	-	NC_000002.12:g.143029670A>G	TOPMed
KYNU	Q16719	p.Met316Thr	rs1023661092	missense variant	-	NC_000002.12:g.143029671T>C	TOPMed
KYNU	Q16719	p.Asp317Tyr	rs1217252735	missense variant	-	NC_000002.12:g.143029673G>T	gnomAD
KYNU	Q16719	p.Asp317Gly	rs747383230	missense variant	-	NC_000002.12:g.143029674A>G	ExAC,gnomAD
KYNU	Q16719	p.Asn318Asp	rs1416836319	missense variant	-	NC_000002.12:g.143029676A>G	TOPMed
KYNU	Q16719	p.Gln321Arg	rs1346542753	missense variant	-	NC_000002.12:g.143033242A>G	TOPMed
KYNU	Q16719	p.Ile323Phe	rs539737850	missense variant	-	NC_000002.12:g.143033247A>T	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Pro324Leu	rs1315639837	missense variant	-	NC_000002.12:g.143033251C>T	TOPMed
KYNU	Q16719	p.Gly325Arg	rs757863674	missense variant	-	NC_000002.12:g.143033253G>A	ExAC,gnomAD
KYNU	Q16719	p.Val326Ile	rs1417877910	missense variant	-	NC_000002.12:g.143033256G>A	gnomAD
KYNU	Q16719	p.Cys327Phe	rs1399573657	missense variant	-	NC_000002.12:g.143033260G>T	TOPMed
KYNU	Q16719	p.Arg330Gln	rs142934146	missense variant	-	NC_000002.12:g.143033269G>A	ESP,gnomAD
KYNU	Q16719	p.Arg330Ter	rs779681494	stop gained	-	NC_000002.12:g.143033268C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ser332Leu	rs751206018	missense variant	-	NC_000002.12:g.143033275C>T	ExAC,gnomAD
KYNU	Q16719	p.Pro334Arg	rs367959783	missense variant	-	NC_000002.12:g.143033281C>G	ESP,ExAC,gnomAD
KYNU	Q16719	p.Pro334Ser	rs374687401	missense variant	-	NC_000002.12:g.143033280C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro335Thr	rs1281114078	missense variant	-	NC_000002.12:g.143033283C>A	gnomAD
KYNU	Q16719	p.Ile336Val	rs1371036406	missense variant	-	NC_000002.12:g.143033286A>G	gnomAD
KYNU	Q16719	p.Leu337Phe	rs374836063	missense variant	-	NC_000002.12:g.143033291G>C	ESP,ExAC,gnomAD
KYNU	Q16719	p.Leu337Val	rs1220875148	missense variant	-	NC_000002.12:g.143033289T>G	gnomAD
KYNU	Q16719	p.Leu338Trp	rs1311160628	missense variant	-	NC_000002.12:g.143033293T>G	gnomAD
KYNU	Q16719	p.Ser341Ala	rs778293782	missense variant	-	NC_000002.12:g.143033301T>G	ExAC,gnomAD
KYNU	Q16719	p.Ser341Phe	rs1443311315	missense variant	-	NC_000002.12:g.143033302C>T	TOPMed
KYNU	Q16719	p.His343Arg	rs749333966	missense variant	-	NC_000002.12:g.143033308A>G	ExAC,gnomAD
KYNU	Q16719	p.Ala344Thr	rs369074720	missense variant	-	NC_000002.12:g.143033310G>A	ESP,TOPMed
KYNU	Q16719	p.Ser345Arg	rs771131526	missense variant	-	NC_000002.12:g.143033315T>A	ExAC,gnomAD
KYNU	Q16719	p.Leu346Ser	rs372960169	missense variant	-	NC_000002.12:g.143033317T>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile348Phe	rs932332112	missense variant	-	NC_000002.12:g.143040428A>T	TOPMed
KYNU	Q16719	p.Ile348Val	rs932332112	missense variant	-	NC_000002.12:g.143040428A>G	TOPMed
KYNU	Q16719	p.Phe349Val	rs1422704925	missense variant	-	NC_000002.12:g.143040431T>G	gnomAD
KYNU	Q16719	p.Phe349Ter	RCV000520521	frameshift	-	NC_000002.12:g.143040431_143040437del	ClinVar
KYNU	Q16719	p.Phe349Ter	RCV000505812	frameshift	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 (VCRL2)	NC_000002.12:g.143040431_143040437del	ClinVar
KYNU	Q16719	p.Phe349Ter	RCV000496114	frameshift	-	NC_000002.12:g.143040431_143040437del	ClinVar
KYNU	Q16719	p.Ala352Glu	rs772449363	missense variant	-	NC_000002.12:g.143040441C>A	ExAC,TOPMed
KYNU	Q16719	p.Ala352Val	rs772449363	missense variant	-	NC_000002.12:g.143040441C>T	ExAC,TOPMed
KYNU	Q16719	p.Lys355Thr	rs537147146	missense variant	-	NC_000002.12:g.143040450A>C	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Ala356Glu	rs555569996	missense variant	-	NC_000002.12:g.143040453C>A	1000Genomes,ExAC,gnomAD
KYNU	Q16719	p.Arg358Gln	rs377612575	missense variant	-	NC_000002.12:g.143040459G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg358Trp	rs140239671	missense variant	-	NC_000002.12:g.143040458C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Thr365Pro	rs1321390594	missense variant	-	NC_000002.12:g.143040479A>C	TOPMed
KYNU	Q16719	p.Tyr367Cys	rs573910765	missense variant	-	NC_000002.12:g.143040486A>G	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Leu368Val	rs1192710838	missense variant	-	NC_000002.12:g.143040488C>G	gnomAD
KYNU	Q16719	p.Leu371Pro	rs1240633826	missense variant	-	NC_000002.12:g.143040498T>C	TOPMed,gnomAD
KYNU	Q16719	p.Ile372Val	rs767089136	missense variant	-	NC_000002.12:g.143040500A>G	ExAC,gnomAD
KYNU	Q16719	p.Lys373Glu	rs1182196513	missense variant	-	NC_000002.12:g.143040503A>G	TOPMed,gnomAD
KYNU	Q16719	p.Lys373Arg	rs752390021	missense variant	-	NC_000002.12:g.143040504A>G	ExAC,gnomAD
KYNU	Q16719	p.His374Tyr	rs1296112689	missense variant	-	NC_000002.12:g.143040506C>T	TOPMed
KYNU	Q16719	p.His374Arg	rs1440973002	missense variant	-	NC_000002.12:g.143040507A>G	TOPMed
KYNU	Q16719	p.Asn375Asp	rs1160444700	missense variant	-	NC_000002.12:g.143040509A>G	gnomAD
KYNU	Q16719	p.Asn375Ile	rs1359345540	missense variant	-	NC_000002.12:g.143040510A>T	TOPMed
KYNU	Q16719	p.Tyr376His	rs1360602335	missense variant	-	NC_000002.12:g.143040512T>C	gnomAD
KYNU	Q16719	p.Gly377Asp	rs1335674908	missense variant	-	NC_000002.12:g.143040516G>A	TOPMed
KYNU	Q16719	p.Lys378Thr	rs756492868	missense variant	-	NC_000002.12:g.143040519A>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys384Arg	rs764499772	missense variant	-	NC_000002.12:g.143040537A>G	ExAC,gnomAD
KYNU	Q16719	p.Asn389Ser	rs1160467890	missense variant	-	NC_000002.12:g.143040552A>G	TOPMed
KYNU	Q16719	p.Ile390Val	rs754344264	missense variant	-	NC_000002.12:g.143040554A>G	ExAC,gnomAD
KYNU	Q16719	p.Pro393Leu	rs376044073	missense variant	-	NC_000002.12:g.143040564C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Pro393Ser	rs371441647	missense variant	-	NC_000002.12:g.143040563C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ser394Phe	rs969200898	missense variant	-	NC_000002.12:g.143040567C>T	TOPMed
KYNU	Q16719	p.His395Tyr	rs538855421	missense variant	-	NC_000002.12:g.143040569C>T	gnomAD
KYNU	Q16719	p.Val396Leu	rs758488765	missense variant	-	NC_000002.12:g.143040572G>T	ExAC,gnomAD
KYNU	Q16719	p.Arg399Gln	rs780204087	missense variant	-	NC_000002.12:g.143040582G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg399Trp	rs1354482334	missense variant	-	NC_000002.12:g.143040581C>T	TOPMed,gnomAD
KYNU	Q16719	p.Gly400Ala	rs1282290421	missense variant	-	NC_000002.12:g.143040585G>C	TOPMed,gnomAD
KYNU	Q16719	p.Gly400Glu	rs1282290421	missense variant	-	NC_000002.12:g.143040585G>A	TOPMed,gnomAD
KYNU	Q16719	p.Cys401Tyr	rs769524086	missense variant	-	NC_000002.12:g.143040588G>A	ExAC,gnomAD
KYNU	Q16719	p.Gln402Lys	rs1242286393	missense variant	-	NC_000002.12:g.143040590C>A	gnomAD
KYNU	Q16719	p.Leu403Pro	rs773026391	missense variant	-	NC_000002.12:g.143040594T>C	ExAC,gnomAD
KYNU	Q16719	p.Leu403Ile	rs1442620289	missense variant	-	NC_000002.12:g.143040593C>A	TOPMed,gnomAD
KYNU	Q16719	p.Thr404Ile	rs749041193	missense variant	-	NC_000002.12:g.143040597C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Thr404Ala	rs1380785963	missense variant	-	NC_000002.12:g.143040596A>G	gnomAD
KYNU	Q16719	p.Ile405Thr	rs1156233556	missense variant	-	NC_000002.12:g.143040600T>C	gnomAD
KYNU	Q16719	p.Pro410Ser	rs774216557	missense variant	-	NC_000002.12:g.143040614C>T	ExAC,gnomAD
KYNU	Q16719	p.Asn411Lys	rs978900105	missense variant	-	NC_000002.12:g.143040619C>G	TOPMed
KYNU	Q16719	p.Lys412Glu	rs9013	missense variant	-	NC_000002.12:g.143040620A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val414Ile	rs767041730	missense variant	-	NC_000002.12:g.143040626G>A	ExAC,gnomAD
KYNU	Q16719	p.Val414Gly	rs775055128	missense variant	-	NC_000002.12:g.143040627T>G	ExAC,gnomAD
KYNU	Q16719	p.Phe415Leu	rs1333819022	missense variant	-	NC_000002.12:g.143040631C>A	gnomAD
KYNU	Q16719	p.Gln416Lys	rs1378252245	missense variant	-	NC_000002.12:g.143040632C>A	gnomAD
KYNU	Q16719	p.Glu417Lys	rs1238970757	missense variant	-	NC_000002.12:g.143040635G>A	gnomAD
KYNU	Q16719	p.Leu418Val	rs1277793192	missense variant	-	NC_000002.12:g.143040638C>G	gnomAD
KYNU	Q16719	p.Leu418Gln	rs1347289337	missense variant	-	NC_000002.12:g.143040639T>A	gnomAD
KYNU	Q16719	p.Leu418Ile	rs1277793192	missense variant	-	NC_000002.12:g.143040638C>A	gnomAD
KYNU	Q16719	p.Glu419Lys	rs1220033404	missense variant	-	NC_000002.12:g.143040641G>A	gnomAD
KYNU	Q16719	p.Arg421Gly	rs1404642186	missense variant	-	NC_000002.12:g.143040647A>G	TOPMed
KYNU	Q16719	p.Arg421Lys	rs760345727	missense variant	-	NC_000002.12:g.143040648G>A	ExAC,gnomAD
KYNU	Q16719	p.Val423Ala	rs763614648	missense variant	-	NC_000002.12:g.143040654T>C	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val423Gly	rs763614648	missense variant	-	NC_000002.12:g.143040654T>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val424Ile	rs1245331631	missense variant	-	NC_000002.12:g.143040656G>A	gnomAD
KYNU	Q16719	p.Cys425Arg	rs1373990650	missense variant	-	NC_000002.12:g.143042047T>C	TOPMed,gnomAD
KYNU	Q16719	p.Asp426Val	rs1023288378	missense variant	-	NC_000002.12:g.143042051A>T	TOPMed,gnomAD
KYNU	Q16719	p.Lys427Arg	rs765680152	missense variant	-	NC_000002.12:g.143042054A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg428Trp	rs147475752	missense variant	-	NC_000002.12:g.143042056C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg428Gln	rs575964691	missense variant	-	NC_000002.12:g.143042057G>A	1000Genomes,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Gly432Asp	rs766753073	missense variant	-	NC_000002.12:g.143042069G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Gly432Val	rs766753073	missense variant	-	NC_000002.12:g.143042069G>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile433Met	rs1279120108	missense variant	-	NC_000002.12:g.143042073T>G	gnomAD
KYNU	Q16719	p.Arg434Ter	rs150018564	stop gained	-	NC_000002.12:g.143042074C>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Arg434Gln	rs781396204	missense variant	-	NC_000002.12:g.143042075G>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Val435Ala	rs199546957	missense variant	-	NC_000002.12:g.143042078T>C	ExAC,gnomAD
KYNU	Q16719	p.Val435Met	rs1267030172	missense variant	-	NC_000002.12:g.143042077G>A	gnomAD
KYNU	Q16719	p.Pro439Ser	rs1391979281	missense variant	-	NC_000002.12:g.143042089C>T	gnomAD
KYNU	Q16719	p.Tyr441Cys	rs1489023975	missense variant	-	NC_000002.12:g.143042096A>G	gnomAD
KYNU	Q16719	p.Asn442Ser	rs1316515247	missense variant	-	NC_000002.12:g.143042099A>G	TOPMed
KYNU	Q16719	p.Ser443Tyr	rs778648586	missense variant	-	NC_000002.12:g.143042102C>A	ExAC,gnomAD
KYNU	Q16719	p.Asp446Gly	rs201260523	missense variant	-	NC_000002.12:g.143042111A>G	1000Genomes
KYNU	Q16719	p.Val447Ala	rs1191397775	missense variant	-	NC_000002.12:g.143042114T>C	TOPMed,gnomAD
KYNU	Q16719	p.Val447Ile	rs745624060	missense variant	-	NC_000002.12:g.143042113G>A	ExAC,gnomAD
KYNU	Q16719	p.Phe450Cys	rs1442774855	missense variant	-	NC_000002.12:g.143042123T>G	gnomAD
KYNU	Q16719	p.Asn452His	rs1011900559	missense variant	-	NC_000002.12:g.143042128A>C	gnomAD
KYNU	Q16719	p.Asn452Ile	rs772071356	missense variant	-	NC_000002.12:g.143042129A>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asn452Ser	rs772071356	missense variant	-	NC_000002.12:g.143042129A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Leu453Arg	rs779801142	missense variant	-	NC_000002.12:g.143042132T>G	ExAC,gnomAD
KYNU	Q16719	p.Ser456Phe	rs768050641	missense variant	-	NC_000002.12:g.143042141C>T	ExAC,gnomAD
KYNU	Q16719	p.Ile457Val	rs776476388	missense variant	-	NC_000002.12:g.143042143A>G	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ile457Thr	rs747776654	missense variant	-	NC_000002.12:g.143042144T>C	ExAC,gnomAD
KYNU	Q16719	p.Leu458Phe	rs770320154	missense variant	-	NC_000002.12:g.143042146C>T	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Leu458Ile	rs770320154	missense variant	-	NC_000002.12:g.143042146C>A	ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp459His	rs374401375	missense variant	-	NC_000002.12:g.143042149G>C	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp459Asn	rs374401375	missense variant	-	NC_000002.12:g.143042149G>A	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Asp459Tyr	rs374401375	missense variant	-	NC_000002.12:g.143042149G>T	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Ser460Phe	rs1340907157	missense variant	-	NC_000002.12:g.143042153C>T	gnomAD
KYNU	Q16719	p.Ala461Val	rs906103747	missense variant	-	NC_000002.12:g.143042156C>T	gnomAD
KYNU	Q16719	p.Glu462Asp	rs774652784	missense variant	-	NC_000002.12:g.143042160A>C	ExAC,gnomAD
KYNU	Q16719	p.Thr463Ala	rs200448158	missense variant	-	NC_000002.12:g.143042161A>G	ESP,ExAC,TOPMed,gnomAD
KYNU	Q16719	p.Lys464Glu	rs1445922282	missense variant	-	NC_000002.12:g.143042164A>G	TOPMed
KYNU	Q16719	p.Ter466Gln	rs1259631263	stop lost	-	NC_000002.12:g.143042170T>C	gnomAD
CDO1	Q16878	p.Gln3Ter	rs765889661	stop gained	-	NC_000005.10:g.115816391G>A	ExAC,gnomAD
CDO1	Q16878	p.Thr4Ile	rs1179210816	missense variant	-	NC_000005.10:g.115816387G>A	gnomAD
CDO1	Q16878	p.Glu5Ala	rs150230708	missense variant	-	NC_000005.10:g.115816384T>G	ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Glu5Gln	rs778876573	missense variant	-	NC_000005.10:g.115816385C>G	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Leu7Met	rs1361592665	missense variant	-	NC_000005.10:g.115816379G>T	TOPMed,gnomAD
CDO1	Q16878	p.Leu7Val	rs1361592665	missense variant	-	NC_000005.10:g.115816379G>C	TOPMed,gnomAD
CDO1	Q16878	p.Lys8Asn	rs200963738	missense variant	-	NC_000005.10:g.115816374C>A	1000Genomes,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Pro9Ser	rs140922998	missense variant	-	NC_000005.10:g.115816373G>A	ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Thr11Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115816366G>A	NCI-TCGA
CDO1	Q16878	p.Leu12Pro	rs755621799	missense variant	-	NC_000005.10:g.115816363A>G	ExAC,gnomAD
CDO1	Q16878	p.Ala13Val	rs750075918	missense variant	-	NC_000005.10:g.115816360G>A	ExAC,gnomAD
CDO1	Q16878	p.Asp14Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115816358C>T	NCI-TCGA
CDO1	Q16878	p.Ile16Thr	rs945209583	missense variant	-	NC_000005.10:g.115816351A>G	TOPMed
CDO1	Q16878	p.Ile16Val	rs371311704	missense variant	-	NC_000005.10:g.115816352T>C	ExAC,gnomAD
CDO1	Q16878	p.Ile16Met	rs762146240	missense variant	-	NC_000005.10:g.115816350G>C	ExAC,gnomAD
CDO1	Q16878	p.Arg17Leu	rs751912991	missense variant	-	NC_000005.10:g.115816348C>A	ExAC,gnomAD
CDO1	Q16878	p.Arg17His	rs751912991	missense variant	-	NC_000005.10:g.115816348C>T	ExAC,gnomAD
CDO1	Q16878	p.Arg17Cys	rs1157991434	missense variant	-	NC_000005.10:g.115816349G>A	gnomAD
CDO1	Q16878	p.Ile18Val	rs764552902	missense variant	-	NC_000005.10:g.115816346T>C	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Gln21Leu	rs1174018977	missense variant	-	NC_000005.10:g.115816336T>A	gnomAD
CDO1	Q16878	p.Leu22Pro	COSM295261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.115816333A>G	NCI-TCGA Cosmic
CDO1	Q16878	p.Gly25Val	rs763321323	missense variant	-	NC_000005.10:g.115816324C>A	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Gly25Arg	rs1396528354	missense variant	-	NC_000005.10:g.115816325C>G	TOPMed
CDO1	Q16878	p.Asp26Tyr	rs776077445	missense variant	-	NC_000005.10:g.115816322C>A	ExAC,gnomAD
CDO1	Q16878	p.Asp26Asn	rs776077445	missense variant	-	NC_000005.10:g.115816322C>T	ExAC,gnomAD
CDO1	Q16878	p.Glu27Lys	rs1200330135	missense variant	-	NC_000005.10:g.115816319C>T	gnomAD
CDO1	Q16878	p.Glu27Gly	rs1481294098	missense variant	-	NC_000005.10:g.115816318T>C	gnomAD
CDO1	Q16878	p.Glu27Asp	COSM3607718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.115816317C>A	NCI-TCGA Cosmic
CDO1	Q16878	p.Val28Phe	rs1322384319	missense variant	-	NC_000005.10:g.115816316C>A	TOPMed
CDO1	Q16878	p.Asn29Asp	rs765341750	missense variant	-	NC_000005.10:g.115816313T>C	ExAC,gnomAD
CDO1	Q16878	p.Asn29Lys	rs759747471	missense variant	-	NC_000005.10:g.115816311A>C	ExAC,gnomAD
CDO1	Q16878	p.Asn29Ser	rs1259745038	missense variant	-	NC_000005.10:g.115816312T>C	TOPMed,gnomAD
CDO1	Q16878	p.Val30Ala	rs1352003133	missense variant	-	NC_000005.10:g.115816309A>G	gnomAD
CDO1	Q16878	p.Glu31Ala	rs1432506701	missense variant	-	NC_000005.10:g.115816306T>G	TOPMed
CDO1	Q16878	p.Glu31Gln	COSM1059866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.115816307C>G	NCI-TCGA Cosmic
CDO1	Q16878	p.Glu32Lys	rs1262968531	missense variant	-	NC_000005.10:g.115816304C>T	TOPMed,gnomAD
CDO1	Q16878	p.Glu32Gln	rs1262968531	missense variant	-	NC_000005.10:g.115816304C>G	TOPMed,gnomAD
CDO1	Q16878	p.Val33Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115816301C>T	NCI-TCGA
CDO1	Q16878	p.Gln34Pro	rs1256721744	missense variant	-	NC_000005.10:g.115816297T>G	TOPMed
CDO1	Q16878	p.Ala35Asp	rs1192782427	missense variant	-	NC_000005.10:g.115816294G>T	gnomAD
CDO1	Q16878	p.Ile36Thr	rs776970866	missense variant	-	NC_000005.10:g.115816291A>G	ExAC,gnomAD
CDO1	Q16878	p.Met37Ile	rs577811621	missense variant	-	NC_000005.10:g.115816287C>T	1000Genomes,ExAC,gnomAD
CDO1	Q16878	p.Glu38Gln	rs375281774	missense variant	-	NC_000005.10:g.115816286C>G	ESP,TOPMed
CDO1	Q16878	p.Glu38Lys	COSM3607717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.115816286C>T	NCI-TCGA Cosmic
CDO1	Q16878	p.Ala39Ser	COSM1059865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.115816283C>A	NCI-TCGA Cosmic
CDO1	Q16878	p.Tyr40His	rs143663963	missense variant	-	NC_000005.10:g.115816280A>G	ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Ser42Arg	rs199779764	missense variant	-	NC_000005.10:g.115816272G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Asp43Gly	rs962794506	missense variant	-	NC_000005.10:g.115816270T>C	TOPMed
CDO1	Q16878	p.Pro44Arg	rs1441523728	missense variant	-	NC_000005.10:g.115816267G>C	gnomAD
CDO1	Q16878	p.Thr45Ile	rs1042867	missense variant	-	NC_000005.10:g.115816264G>A	UniProt,dbSNP
CDO1	Q16878	p.Thr45Ile	VAR_023536	missense variant	-	NC_000005.10:g.115816264G>A	UniProt
CDO1	Q16878	p.Thr45Ile	rs1042867	missense variant	-	NC_000005.10:g.115816264G>A	-
CDO1	Q16878	p.Ala48Val	rs186687245	missense variant	-	NC_000005.10:g.115816255G>A	1000Genomes,ExAC,gnomAD
CDO1	Q16878	p.Ala48Thr	rs1334529008	missense variant	-	NC_000005.10:g.115816256C>T	gnomAD
CDO1	Q16878	p.Met49Thr	rs1419758860	missense variant	-	NC_000005.10:g.115816252A>G	TOPMed
CDO1	Q16878	p.Tyr50Ter	rs998550921	stop gained	-	NC_000005.10:g.115816248G>T	TOPMed,gnomAD
CDO1	Q16878	p.Ala51Ser	rs1177513961	missense variant	-	NC_000005.10:g.115816247C>A	TOPMed,gnomAD
CDO1	Q16878	p.Gln55His	rs1479113682	missense variant	-	NC_000005.10:g.115816233C>A	gnomAD
CDO1	Q16878	p.Tyr56Cys	rs745436519	missense variant	-	NC_000005.10:g.115816231T>C	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Arg57Gly	rs780793909	missense variant	-	NC_000005.10:g.115816229T>C	ExAC,gnomAD
CDO1	Q16878	p.Arg57Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115816228C>A	NCI-TCGA
CDO1	Q16878	p.Tyr58Ter	rs746248283	stop gained	-	NC_000005.10:g.115813255A>T	gnomAD
CDO1	Q16878	p.Tyr58Cys	rs1410742674	missense variant	-	NC_000005.10:g.115813256T>C	gnomAD
CDO1	Q16878	p.Thr59Ser	rs767833032	missense variant	-	NC_000005.10:g.115813253G>C	ExAC,gnomAD
CDO1	Q16878	p.Arg60Gly	rs775227992	missense variant	-	NC_000005.10:g.115813251G>C	ExAC,gnomAD
CDO1	Q16878	p.Arg60Ter	rs775227992	stop gained	-	NC_000005.10:g.115813251G>A	ExAC,gnomAD
CDO1	Q16878	p.Arg60Gln	rs769601972	missense variant	-	NC_000005.10:g.115813250C>T	ExAC,gnomAD
CDO1	Q16878	p.Asn61Thr	rs1202829564	missense variant	-	NC_000005.10:g.115813247T>G	TOPMed,gnomAD
CDO1	Q16878	p.Leu62Val	rs1184045392	missense variant	-	NC_000005.10:g.115813245G>C	gnomAD
CDO1	Q16878	p.Leu62Pro	rs1324173828	missense variant	-	NC_000005.10:g.115813244A>G	TOPMed
CDO1	Q16878	p.Asp64Tyr	rs148715683	missense variant	-	NC_000005.10:g.115813239C>A	1000Genomes,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Gln65Pro	rs187000042	missense variant	-	NC_000005.10:g.115813235T>G	1000Genomes,ExAC,TOPMed
CDO1	Q16878	p.Gln65Lys	rs1341099036	missense variant	-	NC_000005.10:g.115813236G>T	TOPMed
CDO1	Q16878	p.Gln65His	rs1232655469	missense variant	-	NC_000005.10:g.115813234T>G	TOPMed,gnomAD
CDO1	Q16878	p.Gly66Ala	rs147725758	missense variant	-	NC_000005.10:g.115813232C>G	ExAC,gnomAD
CDO1	Q16878	p.Gly66Glu	rs147725758	missense variant	-	NC_000005.10:g.115813232C>T	ExAC,gnomAD
CDO1	Q16878	p.Asn67Tyr	rs1483821579	missense variant	-	NC_000005.10:g.115813230T>A	TOPMed,gnomAD
CDO1	Q16878	p.Asn71Thr	rs771713690	missense variant	-	NC_000005.10:g.115813217T>G	ExAC,gnomAD
CDO1	Q16878	p.Met73Leu	rs1271754134	missense variant	-	NC_000005.10:g.115813212T>G	TOPMed
CDO1	Q16878	p.Leu75Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115813206G>T	NCI-TCGA
CDO1	Q16878	p.Cys76Gly	rs1359455594	missense variant	-	NC_000005.10:g.115813203A>C	gnomAD
CDO1	Q16878	p.Cys76Tyr	rs140378688	missense variant	-	NC_000005.10:g.115813202C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Cys76Phe	rs140378688	missense variant	-	NC_000005.10:g.115813202C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Trp77Cys	rs1291956702	missense variant	-	NC_000005.10:g.115813198C>A	gnomAD
CDO1	Q16878	p.Gly80Arg	rs779361520	missense variant	-	NC_000005.10:g.115813191C>T	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.His88Asn	rs1459171865	missense variant	-	NC_000005.10:g.115811302G>T	TOPMed,gnomAD
CDO1	Q16878	p.Thr89Ala	rs757289307	missense variant	-	NC_000005.10:g.115811299T>C	ExAC,gnomAD
CDO1	Q16878	p.Thr89Ile	rs762241350	missense variant	-	NC_000005.10:g.115811298G>A	TOPMed
CDO1	Q16878	p.Asn90Asp	rs764359898	missense variant	-	NC_000005.10:g.115811296T>C	ExAC,gnomAD
CDO1	Q16878	p.His92Gln	rs754746538	missense variant	-	NC_000005.10:g.115811288G>C	ExAC,gnomAD
CDO1	Q16878	p.Cys93Arg	rs753589000	missense variant	-	NC_000005.10:g.115811287A>G	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Lys96Asn	COSM3826585	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.115811276C>G	NCI-TCGA Cosmic
CDO1	Q16878	p.Gly100Val	rs773026275	missense variant	-	NC_000005.10:g.115811265C>A	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Gly100Glu	rs773026275	missense variant	-	NC_000005.10:g.115811265C>T	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Lys103Met	rs1451161477	missense variant	-	NC_000005.10:g.115811256T>A	TOPMed
CDO1	Q16878	p.Glu104Lys	rs1185085561	missense variant	-	NC_000005.10:g.115811254C>T	gnomAD
CDO1	Q16878	p.Glu104Asp	rs767045816	missense variant	-	NC_000005.10:g.115811252C>A	ExAC,gnomAD
CDO1	Q16878	p.Thr105Ile	rs774122941	missense variant	-	NC_000005.10:g.115811250G>A	ExAC,gnomAD
CDO1	Q16878	p.Thr105Ala	rs761463048	missense variant	-	NC_000005.10:g.115811251T>C	ExAC,gnomAD
CDO1	Q16878	p.Pro110Ser	rs981841826	missense variant	-	NC_000005.10:g.115811236G>A	TOPMed,gnomAD
CDO1	Q16878	p.Pro110Ala	rs981841826	missense variant	-	NC_000005.10:g.115811236G>C	TOPMed,gnomAD
CDO1	Q16878	p.Asp111Gly	rs1299070539	missense variant	-	NC_000005.10:g.115811232T>C	gnomAD
CDO1	Q16878	p.Lys112Arg	rs748982944	missense variant	-	NC_000005.10:g.115811229T>C	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Ser114Phe	rs775877136	missense variant	-	NC_000005.10:g.115811223G>A	ExAC,gnomAD
CDO1	Q16878	p.Ser114Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115811224A>T	NCI-TCGA
CDO1	Q16878	p.Asn115Lys	rs1360543980	missense variant	-	NC_000005.10:g.115811219A>T	TOPMed,gnomAD
CDO1	Q16878	p.Asn115Ser	COSM3607714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.115811220T>C	NCI-TCGA Cosmic
CDO1	Q16878	p.Glu116Gln	COSM448464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.115811218C>G	NCI-TCGA Cosmic
CDO1	Q16878	p.Met117Ile	rs770071844	missense variant	-	NC_000005.10:g.115811213C>A	ExAC
CDO1	Q16878	p.Val118Phe	rs746320250	missense variant	-	NC_000005.10:g.115811212C>A	ExAC,gnomAD
CDO1	Q16878	p.Lys120Ter	rs1323552812	stop gained	-	NC_000005.10:g.115811206T>A	TOPMed
CDO1	Q16878	p.Glu122Asp	rs781615614	missense variant	-	NC_000005.10:g.115811198T>A	ExAC,gnomAD
CDO1	Q16878	p.Leu125Phe	rs201131720	missense variant	-	NC_000005.10:g.115811189C>G	1000Genomes,ExAC,gnomAD
CDO1	Q16878	p.Glu127Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115811185C>T	NCI-TCGA
CDO1	Q16878	p.Asn128Ser	rs1481820485	missense variant	-	NC_000005.10:g.115811181T>C	TOPMed,gnomAD
CDO1	Q16878	p.Asn128Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115811181T>A	NCI-TCGA
CDO1	Q16878	p.Gln129Ter	rs752929831	stop gained	-	NC_000005.10:g.115811179G>A	ExAC,gnomAD
CDO1	Q16878	p.Gln129Lys	rs752929831	missense variant	-	NC_000005.10:g.115811179G>T	ExAC,gnomAD
CDO1	Q16878	p.Cys130Tyr	rs766129764	missense variant	-	NC_000005.10:g.115811175C>T	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Ala131Gly	rs1013104223	missense variant	-	NC_000005.10:g.115811172G>C	TOPMed
CDO1	Q16878	p.Ile133Met	rs755925822	missense variant	-	NC_000005.10:g.115811165G>C	ExAC,gnomAD
CDO1	Q16878	p.Ile137Thr	rs200372326	missense variant	-	NC_000005.10:g.115806512A>G	1000Genomes,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Gly138Ala	rs1246158304	missense variant	-	NC_000005.10:g.115806509C>G	gnomAD
CDO1	Q16878	p.Arg141Gln	rs375963286	missense variant	-	NC_000005.10:g.115806500C>T	ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Arg141Ter	rs781161372	stop gained	-	NC_000005.10:g.115806501G>A	ExAC,gnomAD
CDO1	Q16878	p.Arg141Gly	rs781161372	missense variant	-	NC_000005.10:g.115806501G>C	ExAC,gnomAD
CDO1	Q16878	p.Glu143Gln	VAR_036170	Missense	-	-	UniProt
CDO1	Q16878	p.Asn144Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115806491T>C	NCI-TCGA
CDO1	Q16878	p.Ile145Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115806489T>C	NCI-TCGA
CDO1	Q16878	p.Ser146Cys	rs751558879	missense variant	-	NC_000005.10:g.115806486T>A	ExAC,gnomAD
CDO1	Q16878	p.Thr148Met	rs536229174	missense variant	-	NC_000005.10:g.115806479G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Glu149Lys	COSM3607713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.115806477C>T	NCI-TCGA Cosmic
CDO1	Q16878	p.Pro150Arg	rs752381626	missense variant	-	NC_000005.10:g.115806473G>C	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Pro150Thr	rs1402576228	missense variant	-	NC_000005.10:g.115806474G>T	gnomAD
CDO1	Q16878	p.Ala151Ser	rs764849319	missense variant	-	NC_000005.10:g.115806471C>A	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Ala151Thr	rs764849319	missense variant	-	NC_000005.10:g.115806471C>T	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Val152Met	rs1361897919	missense variant	-	NC_000005.10:g.115806468C>T	TOPMed,gnomAD
CDO1	Q16878	p.Ser153Thr	rs776810485	missense variant	-	NC_000005.10:g.115806464C>G	ExAC,gnomAD
CDO1	Q16878	p.Leu156Met	rs146759585	missense variant	-	NC_000005.10:g.115806456A>T	ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Tyr157Cys	rs200935045	missense variant	-	NC_000005.10:g.115806452T>C	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Tyr157Ser	rs200935045	missense variant	-	NC_000005.10:g.115806452T>G	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Ser158Gly	rs567449443	missense variant	-	NC_000005.10:g.115806450T>C	1000Genomes,ExAC,gnomAD
CDO1	Q16878	p.Pro160His	rs772121757	missense variant	-	NC_000005.10:g.115806443G>T	ExAC,gnomAD
CDO1	Q16878	p.Phe161Val	rs1268229461	missense variant	-	NC_000005.10:g.115806441A>C	gnomAD
CDO1	Q16878	p.Phe161Leu	rs1268229461	missense variant	-	NC_000005.10:g.115806441A>G	gnomAD
CDO1	Q16878	p.Asp162Val	rs1191151897	missense variant	-	NC_000005.10:g.115806437T>A	gnomAD
CDO1	Q16878	p.Thr163Ile	rs748221907	missense variant	-	NC_000005.10:g.115806434G>A	ExAC,gnomAD
CDO1	Q16878	p.His165Arg	rs143367368	missense variant	-	NC_000005.10:g.115806428T>C	ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Ala166Asp	rs757126802	missense variant	-	NC_000005.10:g.115806425G>T	ExAC,gnomAD
CDO1	Q16878	p.Ala166Thr	rs781078499	missense variant	-	NC_000005.10:g.115806426C>T	ExAC,gnomAD
CDO1	Q16878	p.Asp168Gly	rs1285448799	missense variant	-	NC_000005.10:g.115806419T>C	TOPMed
CDO1	Q16878	p.Thr171Ile	rs1344366829	missense variant	-	NC_000005.10:g.115806410G>A	gnomAD
CDO1	Q16878	p.Asn175Lys	rs1387959297	missense variant	-	NC_000005.10:g.115806397G>T	gnomAD
CDO1	Q16878	p.Asn175Ser	rs143396814	missense variant	-	NC_000005.10:g.115806398T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Asn175Tyr	rs1191746770	missense variant	-	NC_000005.10:g.115806399T>A	TOPMed
CDO1	Q16878	p.Val177Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115806392A>G	NCI-TCGA
CDO1	Q16878	p.Thr180Pro	rs375188135	missense variant	-	NC_000005.10:g.115806384T>G	ESP,ExAC,TOPMed,gnomAD
CDO1	Q16878	p.His182Arg	rs764835868	missense variant	-	NC_000005.10:g.115806377T>C	ExAC,gnomAD
CDO1	Q16878	p.Gly186Arg	rs1457623282	missense variant	-	NC_000005.10:g.115806366C>T	TOPMed,gnomAD
CDO1	Q16878	p.Arg188Gly	rs1413898639	missense variant	-	NC_000005.10:g.115806360T>C	gnomAD
CDO1	Q16878	p.Arg188Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.115806359C>A	NCI-TCGA
CDO1	Q16878	p.Thr189Ala	rs1161698110	missense variant	-	NC_000005.10:g.115806357T>C	gnomAD
CDO1	Q16878	p.Thr193Ile	rs1246658967	missense variant	-	NC_000005.10:g.115805458G>A	TOPMed
CDO1	Q16878	p.Thr193Ala	rs760908783	missense variant	-	NC_000005.10:g.115805459T>C	ExAC,gnomAD
CDO1	Q16878	p.Ser194Leu	rs766064742	missense variant	-	NC_000005.10:g.115805455G>A	ExAC,TOPMed,gnomAD
CDO1	Q16878	p.Gly195Val	rs181204831	missense variant	-	NC_000005.10:g.115805452C>A	1000Genomes,ExAC
CDO1	Q16878	p.Ser196Leu	rs1312743514	missense variant	-	NC_000005.10:g.115805449G>A	gnomAD
CDO1	Q16878	p.Glu198Gly	rs762171513	missense variant	-	NC_000005.10:g.115805443T>C	ExAC,gnomAD
CDO1	Q16878	p.Asn200Lys	rs1335187169	missense variant	-	NC_000005.10:g.115805436G>T	gnomAD
KIF7	Q2M1P5	p.Gly2Arg	rs938045073	missense variant	-	NC_000015.10:g.89652927C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala5Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89652917G>T	NCI-TCGA
KIF7	Q2M1P5	p.Gln6His	rs1270213542	missense variant	-	NC_000015.10:g.89652913C>G	TOPMed
KIF7	Q2M1P5	p.Gln6Ter	rs1325798081	stop gained	-	NC_000015.10:g.89652915G>A	gnomAD
KIF7	Q2M1P5	p.Pro9Leu	rs758144105	missense variant	-	NC_000015.10:g.89652905G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly10Trp	rs1203959700	missense variant	-	NC_000015.10:g.89652903C>A	TOPMed
KIF7	Q2M1P5	p.Gly10Glu	rs543942301	missense variant	-	NC_000015.10:g.89652902C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly10Val	rs543942301	missense variant	-	NC_000015.10:g.89652902C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu12Gly	rs1271849962	missense variant	-	NC_000015.10:g.89652896T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu13Lys	rs765192038	missense variant	-	NC_000015.10:g.89652894C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala14Thr	rs1337006433	missense variant	-	NC_000015.10:g.89652891C>T	gnomAD
KIF7	Q2M1P5	p.Pro15Ser	rs1454209591	missense variant	-	NC_000015.10:g.89652888G>A	gnomAD
KIF7	Q2M1P5	p.Val16Gly	rs1403402865	missense variant	-	NC_000015.10:g.89652884A>C	gnomAD
KIF7	Q2M1P5	p.Arg17Trp	rs141865394	missense variant	-	NC_000015.10:g.89652882G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg17Trp	RCV000117425	missense variant	-	NC_000015.10:g.89652882G>A	ClinVar
KIF7	Q2M1P5	p.Arg17Gln	rs949983017	missense variant	-	NC_000015.10:g.89652881C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val18Ile	rs1420854824	missense variant	-	NC_000015.10:g.89652879C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala19Val	rs1247032577	missense variant	-	NC_000015.10:g.89652875G>A	gnomAD
KIF7	Q2M1P5	p.Arg21Ter	RCV000355275	nonsense	-	NC_000015.10:g.89652870G>A	ClinVar
KIF7	Q2M1P5	p.Arg21Gln	rs935846747	missense variant	-	NC_000015.10:g.89652869C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg21Ter	rs794727316	stop gained	-	NC_000015.10:g.89652870G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg21Gly	rs794727316	missense variant	-	NC_000015.10:g.89652870G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val22Leu	rs1462866186	missense variant	-	NC_000015.10:g.89652867C>G	gnomAD
KIF7	Q2M1P5	p.Arg23Ter	RCV000714582	nonsense	Macrocephaly with multiple epiphyseal dysplasia and distinctive facies (MMEDF)	NC_000015.10:g.89652864G>A	ClinVar
KIF7	Q2M1P5	p.Arg23Ter	RCV000714581	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89652864G>A	ClinVar
KIF7	Q2M1P5	p.Arg23Ter	rs1235928535	stop gained	-	NC_000015.10:g.89652864G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg23Gln	rs1209584417	missense variant	-	NC_000015.10:g.89652863C>T	gnomAD
KIF7	Q2M1P5	p.Leu25Val	rs1275039697	missense variant	-	NC_000015.10:g.89652858G>C	gnomAD
KIF7	Q2M1P5	p.Leu26Arg	rs1198797617	missense variant	-	NC_000015.10:g.89652854A>C	gnomAD
KIF7	Q2M1P5	p.Pro27Ser	rs1429190056	missense variant	-	NC_000015.10:g.89652852G>A	TOPMed
KIF7	Q2M1P5	p.Glu29Asp	rs767557131	missense variant	-	NC_000015.10:g.89652844C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.His32Gln	rs368482949	missense variant	-	NC_000015.10:g.89652835G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly33Arg	rs1018636281	missense variant	-	NC_000015.10:g.89652834C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly33Arg	rs1018636281	missense variant	-	NC_000015.10:g.89652834C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser36Arg	rs1280702414	missense variant	-	NC_000015.10:g.89652823G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Cys37Phe	rs1442319245	missense variant	-	NC_000015.10:g.89652821C>A	gnomAD
KIF7	Q2M1P5	p.Cys37Ter	rs1355724901	stop gained	-	NC_000015.10:g.89652820G>T	gnomAD
KIF7	Q2M1P5	p.Gln39Arg	rs1222167310	missense variant	-	NC_000015.10:g.89652815T>C	gnomAD
KIF7	Q2M1P5	p.Val40Met	rs1367383569	missense variant	-	NC_000015.10:g.89652813C>T	NCI-TCGA
KIF7	Q2M1P5	p.Val40Met	rs1367383569	missense variant	-	NC_000015.10:g.89652813C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro42Ala	rs769021701	missense variant	-	NC_000015.10:g.89652807G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro42Thr	rs769021701	missense variant	-	NC_000015.10:g.89652807G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg46His	rs959891471	missense variant	-	NC_000015.10:g.89652794C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg46Pro	rs959891471	missense variant	-	NC_000015.10:g.89652794C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg46Cys	rs567170163	missense variant	-	NC_000015.10:g.89652795G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg46Ser	COSM5142324	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89652795G>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Val47Ile	rs770323687	missense variant	-	NC_000015.10:g.89652792C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr48Ile	rs1035083771	missense variant	-	NC_000015.10:g.89652788G>A	TOPMed
KIF7	Q2M1P5	p.Arg51His	rs555261308	missense variant	-	NC_000015.10:g.89652779C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg51Cys	rs746429585	missense variant	-	NC_000015.10:g.89652780G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp52Asn	RCV000117413	missense variant	-	NC_000015.10:g.89652777C>T	ClinVar
KIF7	Q2M1P5	p.Asp52Asn	RCV000278498	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89652777C>T	ClinVar
KIF7	Q2M1P5	p.Asp52Asn	rs8179065	missense variant	-	NC_000015.10:g.89652777C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp52Tyr	rs8179065	missense variant	-	NC_000015.10:g.89652777C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp52Glu	rs1203068941	missense variant	-	NC_000015.10:g.89652775G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp52Lys	RCV000722879	missense variant	-	NC_000015.10:g.89652775_89652777delinsTTT	ClinVar
KIF7	Q2M1P5	p.Arg53Gln	rs746547718	missense variant	-	NC_000015.10:g.89652773C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg53Leu	rs746547718	missense variant	-	NC_000015.10:g.89652773C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg53Gly	rs569323391	missense variant	-	NC_000015.10:g.89652774G>C	1000Genomes,gnomAD
KIF7	Q2M1P5	p.Arg53Ter	rs569323391	stop gained	-	NC_000015.10:g.89652774G>A	1000Genomes,gnomAD
KIF7	Q2M1P5	p.Arg53Ter	RCV000537774	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89652774G>A	ClinVar
KIF7	Q2M1P5	p.His54Tyr	RCV000176010	missense variant	-	NC_000015.10:g.89652771G>A	ClinVar
KIF7	Q2M1P5	p.His54Tyr	rs794727315	missense variant	-	NC_000015.10:g.89652771G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Phe57Tyr	rs1319640068	missense variant	-	NC_000015.10:g.89652761A>T	gnomAD
KIF7	Q2M1P5	p.His58Gln	rs760396015	missense variant	-	NC_000015.10:g.89652757G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.His58Tyr	rs1311602417	missense variant	-	NC_000015.10:g.89652759G>A	gnomAD
KIF7	Q2M1P5	p.Val59Met	rs369404071	missense variant	-	NC_000015.10:g.89652756C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val59Leu	rs369404071	missense variant	-	NC_000015.10:g.89652756C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val59Leu	rs369404071	missense variant	-	NC_000015.10:g.89652756C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu61Val	rs1285971751	missense variant	-	NC_000015.10:g.89652750G>C	gnomAD
KIF7	Q2M1P5	p.Ala62Thr	rs1370557352	missense variant	-	NC_000015.10:g.89652747C>T	gnomAD
KIF7	Q2M1P5	p.Glu63Lys	rs1459778502	missense variant	-	NC_000015.10:g.89652744C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu63Gly	rs1348446857	missense variant	-	NC_000015.10:g.89652743T>C	gnomAD
KIF7	Q2M1P5	p.Asp64Gly	rs1026564700	missense variant	-	NC_000015.10:g.89652740T>C	TOPMed
KIF7	Q2M1P5	p.Ala65Val	rs775159552	missense variant	-	NC_000015.10:g.89652737G>A	gnomAD
KIF7	Q2M1P5	p.Ala65Gly	rs775159552	missense variant	-	NC_000015.10:g.89652737G>C	gnomAD
KIF7	Q2M1P5	p.Gly66Arg	rs532675934	missense variant	-	NC_000015.10:g.89652735C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly66Arg	rs532675934	missense variant	-	NC_000015.10:g.89652735C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly66Val	rs1363434080	missense variant	-	NC_000015.10:g.89652734C>A	TOPMed
KIF7	Q2M1P5	p.Gln67Ter	rs766352879	stop gained	-	NC_000015.10:g.89652732G>A	ExAC
KIF7	Q2M1P5	p.Glu68Gly	rs1180177940	missense variant	-	NC_000015.10:g.89652728T>C	gnomAD
KIF7	Q2M1P5	p.Val70Met	rs761934745	missense variant	-	NC_000015.10:g.89652723C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val70Met	RCV000336973	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89652723C>T	ClinVar
KIF7	Q2M1P5	p.Gln72Arg	rs1487401425	missense variant	-	NC_000015.10:g.89652716T>C	gnomAD
KIF7	Q2M1P5	p.Gln72Glu	rs1201439891	missense variant	-	NC_000015.10:g.89652717G>C	gnomAD
KIF7	Q2M1P5	p.Ala73Ter	RCV000414144	frameshift	-	NC_000015.10:g.89652715del	ClinVar
KIF7	Q2M1P5	p.Ala73Ter	RCV000023886	frameshift	Joubert syndrome 12 (JBTS12)	NC_000015.10:g.89652715del	ClinVar
KIF7	Q2M1P5	p.Ala73Asp	rs552362795	missense variant	-	NC_000015.10:g.89652713G>T	1000Genomes,gnomAD
KIF7	Q2M1P5	p.Ala73Val	rs552362795	missense variant	-	NC_000015.10:g.89652713G>A	1000Genomes,gnomAD
KIF7	Q2M1P5	p.Ala73Val	rs552362795	missense variant	-	NC_000015.10:g.89652713G>A	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Cys74Tyr	rs1301806942	missense variant	-	NC_000015.10:g.89652710C>T	TOPMed
KIF7	Q2M1P5	p.Val75Ile	rs1227247256	missense variant	-	NC_000015.10:g.89652708C>T	NCI-TCGA
KIF7	Q2M1P5	p.Val75Ile	rs1227247256	missense variant	-	NC_000015.10:g.89652708C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val75Asp	COSM1375357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89652707A>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Gln76Glu	rs1345528858	missense variant	-	NC_000015.10:g.89652705G>C	gnomAD
KIF7	Q2M1P5	p.Leu79Phe	RCV000523915	missense variant	-	NC_000015.10:g.89652696G>A	ClinVar
KIF7	Q2M1P5	p.Leu79Phe	rs1388988537	missense variant	-	NC_000015.10:g.89652696G>A	gnomAD
KIF7	Q2M1P5	p.Leu79Pro	rs1236627651	missense variant	-	NC_000015.10:g.89652695A>G	TOPMed
KIF7	Q2M1P5	p.Glu80Asp	COSM966376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89652691C>A	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Phe83Val	rs770614646	missense variant	-	NC_000015.10:g.89652684A>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Phe83Leu	rs770614646	missense variant	-	NC_000015.10:g.89652684A>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Phe83Cys	rs1289476412	missense variant	-	NC_000015.10:g.89652683A>C	TOPMed
KIF7	Q2M1P5	p.Glu84Asp	rs1391195209	missense variant	-	NC_000015.10:g.89652679C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu84Lys	rs775919883	missense variant	-	NC_000015.10:g.89652681C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly85Asp	rs1157143166	missense variant	-	NC_000015.10:g.89652677C>T	gnomAD
KIF7	Q2M1P5	p.Asn87Asp	rs147947221	missense variant	-	NC_000015.10:g.89652672T>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn87His	rs147947221	missense variant	-	NC_000015.10:g.89652672T>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val90Ile	rs891743732	missense variant	-	NC_000015.10:g.89652663C>T	TOPMed
KIF7	Q2M1P5	p.Tyr93Phe	rs1178290037	missense variant	-	NC_000015.10:g.89652653T>A	gnomAD
KIF7	Q2M1P5	p.Gly94Val	rs1266575095	missense variant	-	NC_000015.10:g.89652650C>A	gnomAD
KIF7	Q2M1P5	p.Gln95Lys	rs771463286	missense variant	-	NC_000015.10:g.89652648G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Thr96Met	rs1245826414	missense variant	-	NC_000015.10:g.89652644G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr96Met	rs1245826414	missense variant	-	NC_000015.10:g.89652644G>A	NCI-TCGA
KIF7	Q2M1P5	p.Gly99Glu	rs1465593089	missense variant	-	NC_000015.10:g.89652635C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Met104Arg	rs1230407147	missense variant	-	NC_000015.10:g.89652620A>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Met104Leu	rs1264501750	missense variant	-	NC_000015.10:g.89652621T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Met104Thr	rs1230407147	missense variant	-	NC_000015.10:g.89652620A>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly105Glu	rs1311016113	missense variant	-	NC_000015.10:g.89652617C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly105Ala	rs1311016113	missense variant	-	NC_000015.10:g.89652617C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu106Val	rs747819025	missense variant	-	NC_000015.10:g.89652614T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala107Thr	rs778629024	missense variant	-	NC_000015.10:g.89652612C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser108Thr	rs1318822623	missense variant	-	NC_000015.10:g.89652608C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser108Cys	rs754667399	missense variant	-	NC_000015.10:g.89652609T>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val109Ala	rs529927988	missense variant	-	NC_000015.10:g.89652605A>G	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Ala110Val	rs1250271017	missense variant	-	NC_000015.10:g.89649941G>A	gnomAD
KIF7	Q2M1P5	p.Ser111Phe	rs1182032856	missense variant	-	NC_000015.10:g.89649938G>A	gnomAD
KIF7	Q2M1P5	p.Ser111Thr	rs894497447	missense variant	-	NC_000015.10:g.89649939A>T	TOPMed
KIF7	Q2M1P5	p.Glu114Gln	rs1355982031	missense variant	-	NC_000015.10:g.89649930C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ile119Val	rs761226001	missense variant	-	NC_000015.10:g.89649915T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ile119Val	RCV000442397	missense variant	-	NC_000015.10:g.89649915T>C	ClinVar
KIF7	Q2M1P5	p.Pro121Leu	rs1277744807	missense variant	-	NC_000015.10:g.89649908G>A	TOPMed
KIF7	Q2M1P5	p.Ala125Val	rs771500087	missense variant	-	NC_000015.10:g.89649896G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala125Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89649897C>T	NCI-TCGA
KIF7	Q2M1P5	p.Glu126Lys	rs886051544	missense variant	-	NC_000015.10:g.89649894C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu126Lys	RCV000321796	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649894C>T	ClinVar
KIF7	Q2M1P5	p.Lys129Arg	rs778381085	missense variant	-	NC_000015.10:g.89649884T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu130Val	rs1383044852	missense variant	-	NC_000015.10:g.89649882G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ile131Met	rs537169269	missense variant	-	NC_000015.10:g.89649877G>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp132Asn	rs1410526224	missense variant	-	NC_000015.10:g.89649876C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn134Ser	rs922869195	missense variant	-	NC_000015.10:g.89649869T>C	TOPMed
KIF7	Q2M1P5	p.Asp135Glu	rs886051543	missense variant	-	NC_000015.10:g.89649865G>T	-
KIF7	Q2M1P5	p.Asp135Glu	RCV000267079	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649865G>T	ClinVar
KIF7	Q2M1P5	p.Leu137Phe	rs1360574783	missense variant	-	NC_000015.10:g.89649861G>A	TOPMed
KIF7	Q2M1P5	p.Cys139Ser	rs1478669456	missense variant	-	NC_000015.10:g.89649854C>G	gnomAD
KIF7	Q2M1P5	p.Leu140Met	rs756117745	missense variant	-	NC_000015.10:g.89649852G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.His142Arg	rs551697037	missense variant	-	NC_000015.10:g.89649845T>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser144Phe	rs1423914482	missense variant	-	NC_000015.10:g.89649839G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Tyr145Ser	RCV000415003	missense variant	Cerebellar ataxia	NC_000015.10:g.89649836T>G	ClinVar
KIF7	Q2M1P5	p.Tyr145Ser	rs758361736	missense variant	-	NC_000015.10:g.89649836T>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu147Lys	rs1267640231	missense variant	-	NC_000015.10:g.89649831C>T	gnomAD
KIF7	Q2M1P5	p.Val148Leu	rs1368643826	missense variant	-	NC_000015.10:g.89649828C>G	TOPMed
KIF7	Q2M1P5	p.Lys150Gln	rs1050207869	missense variant	-	NC_000015.10:g.89649822T>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys150Thr	rs1184119876	missense variant	-	NC_000015.10:g.89649821T>G	gnomAD
KIF7	Q2M1P5	p.Arg154Gln	RCV000547008	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649809C>T	ClinVar
KIF7	Q2M1P5	p.Arg154Gln	rs180758272	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89649809C>T	UniProt,dbSNP
KIF7	Q2M1P5	p.Arg154Gln	VAR_077692	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89649809C>T	UniProt
KIF7	Q2M1P5	p.Arg154Gln	rs180758272	missense variant	-	NC_000015.10:g.89649809C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg154Ter	rs387907044	stop gained	-	NC_000015.10:g.89649810G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg154Ter	RCV000023882	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649810G>A	ClinVar
KIF7	Q2M1P5	p.Arg154Gly	rs387907044	missense variant	-	NC_000015.10:g.89649810G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg154Gln	RCV000733768	missense variant	-	NC_000015.10:g.89649809C>T	ClinVar
KIF7	Q2M1P5	p.Leu156Val	rs1365593121	missense variant	-	NC_000015.10:g.89649804G>C	gnomAD
KIF7	Q2M1P5	p.Glu158Lys	rs1322167851	missense variant	-	NC_000015.10:g.89649798C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu158Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89649797T>A	NCI-TCGA
KIF7	Q2M1P5	p.Gly160Asp	rs1432505645	missense variant	-	NC_000015.10:g.89649791C>T	gnomAD
KIF7	Q2M1P5	p.Thr161Ala	rs1221234527	missense variant	-	NC_000015.10:g.89649789T>C	TOPMed
KIF7	Q2M1P5	p.Thr161Ile	rs1057435113	missense variant	-	NC_000015.10:g.89649788G>A	TOPMed
KIF7	Q2M1P5	p.Ala162Thr	COSM966374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89649786C>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Arg164Gly	RCV000595070	missense variant	-	NC_000015.10:g.89649780G>C	ClinVar
KIF7	Q2M1P5	p.Arg164His	rs1336887612	missense variant	-	NC_000015.10:g.89649779C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg164Gly	rs755280435	missense variant	-	NC_000015.10:g.89649780G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg164Cys	rs755280435	missense variant	-	NC_000015.10:g.89649780G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg169Gln	rs766793289	missense variant	-	NC_000015.10:g.89649764C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg169Trp	rs754191899	missense variant	-	NC_000015.10:g.89649765G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp171Gly	rs1003474136	missense variant	-	NC_000015.10:g.89649758T>C	TOPMed
KIF7	Q2M1P5	p.Arg173His	rs768030553	missense variant	-	NC_000015.10:g.89649752C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg173Cys	rs559797970	missense variant	-	NC_000015.10:g.89649753G>A	1000Genomes,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg173Ser	rs559797970	missense variant	-	NC_000015.10:g.89649753G>T	1000Genomes,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly174Arg	rs188342701	missense variant	-	NC_000015.10:g.89649750C>T	1000Genomes,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly180Trp	rs1484780856	missense variant	-	NC_000015.10:g.89649359C>A	TOPMed
KIF7	Q2M1P5	p.Val181Met	rs1409898901	missense variant	-	NC_000015.10:g.89649356C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val181Leu	rs1409898901	missense variant	-	NC_000015.10:g.89649356C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp185Asn	rs1310326259	missense variant	-	NC_000015.10:g.89649344C>T	gnomAD
KIF7	Q2M1P5	p.Val186Met	rs1354267066	missense variant	-	NC_000015.10:g.89649341C>T	gnomAD
KIF7	Q2M1P5	p.Gly188Ser	rs1407346812	missense variant	-	NC_000015.10:g.89649335C>T	gnomAD
KIF7	Q2M1P5	p.Leu189Met	rs1191652907	missense variant	-	NC_000015.10:g.89649332G>T	TOPMed
KIF7	Q2M1P5	p.Glu197Ter	RCV000023884	frameshift	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649310dup	ClinVar
KIF7	Q2M1P5	p.Glu197Gly	rs1181427119	missense variant	-	NC_000015.10:g.89649307T>C	gnomAD
KIF7	Q2M1P5	p.Asn200Ser	rs977482531	missense variant	-	NC_000015.10:g.89649298T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala201Thr	rs967769378	missense variant	-	NC_000015.10:g.89649296C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala201Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89649295G>A	NCI-TCGA
KIF7	Q2M1P5	p.Ala202Glu	rs1253908330	missense variant	-	NC_000015.10:g.89649292G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala202Val	rs1253908330	missense variant	-	NC_000015.10:g.89649292G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg203Gln	rs1179864977	missense variant	-	NC_000015.10:g.89649289C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr205Met	rs745680789	missense variant	-	NC_000015.10:g.89649283G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly206Glu	rs1223479072	missense variant	-	NC_000015.10:g.89649280C>T	gnomAD
KIF7	Q2M1P5	p.Ala207Thr	RCV000325727	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649278C>T	ClinVar
KIF7	Q2M1P5	p.Ala207Thr	rs886051542	missense variant	-	NC_000015.10:g.89649278C>T	gnomAD
KIF7	Q2M1P5	p.Thr208Met	RCV000270710	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649274G>A	ClinVar
KIF7	Q2M1P5	p.Thr208Lys	rs886051541	missense variant	-	NC_000015.10:g.89649274G>T	gnomAD
KIF7	Q2M1P5	p.Thr208Met	rs886051541	missense variant	-	NC_000015.10:g.89649274G>A	gnomAD
KIF7	Q2M1P5	p.His209Asn	rs1228483857	missense variant	-	NC_000015.10:g.89649272G>T	gnomAD
KIF7	Q2M1P5	p.Leu210Pro	rs1394181326	missense variant	-	NC_000015.10:g.89649268A>G	TOPMed
KIF7	Q2M1P5	p.Ser214Pro	rs1333950635	missense variant	-	NC_000015.10:g.89649257A>G	TOPMed
KIF7	Q2M1P5	p.Ser214Tyr	rs757264040	missense variant	-	NC_000015.10:g.89649256G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser215Gly	RCV000365273	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649254T>C	ClinVar
KIF7	Q2M1P5	p.Ser215Arg	rs189804625	missense variant	-	NC_000015.10:g.89649252G>T	1000Genomes,ExAC
KIF7	Q2M1P5	p.Ser215Gly	rs886051540	missense variant	-	NC_000015.10:g.89649254T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg216Leu	rs1020469860	missense variant	-	NC_000015.10:g.89649250C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg216Cys	rs1373212168	missense variant	-	NC_000015.10:g.89649251G>A	gnomAD
KIF7	Q2M1P5	p.His218Arg	rs1305884128	missense variant	-	NC_000015.10:g.89649244T>C	TOPMed
KIF7	Q2M1P5	p.Thr219Ser	rs1439052275	missense variant	-	NC_000015.10:g.89649242T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr219Ala	rs1439052275	missense variant	-	NC_000015.10:g.89649242T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr222Asn	rs1164414335	missense variant	-	NC_000015.10:g.89649232G>T	gnomAD
KIF7	Q2M1P5	p.Thr224Ile	rs1414227324	missense variant	-	NC_000015.10:g.89649226G>A	gnomAD
KIF7	Q2M1P5	p.Leu225Val	rs1156995768	missense variant	-	NC_000015.10:g.89649224G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu226Lys	rs955010124	missense variant	-	NC_000015.10:g.89649221C>T	gnomAD
KIF7	Q2M1P5	p.Arg228Gln	rs1425831510	missense variant	-	NC_000015.10:g.89649214C>T	TOPMed
KIF7	Q2M1P5	p.Arg228Trp	rs1028164219	missense variant	-	NC_000015.10:g.89649215G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg228Pro	rs1425831510	missense variant	-	NC_000015.10:g.89649214C>G	TOPMed
KIF7	Q2M1P5	p.Gly229Arg	rs1245789833	missense variant	-	NC_000015.10:g.89649212C>G	gnomAD
KIF7	Q2M1P5	p.Arg230Ter	RCV000023885	frameshift	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649214del	ClinVar
KIF7	Q2M1P5	p.Arg230Ser	rs1465947060	missense variant	-	NC_000015.10:g.89649209G>T	gnomAD
KIF7	Q2M1P5	p.Arg230His	rs997082435	missense variant	-	NC_000015.10:g.89649208C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg230Cys	rs1465947060	missense variant	-	NC_000015.10:g.89649209G>A	gnomAD
KIF7	Q2M1P5	p.Pro232Leu	rs1460145124	missense variant	-	NC_000015.10:g.89649202G>A	TOPMed
KIF7	Q2M1P5	p.Ser233Asn	rs1227236239	missense variant	-	NC_000015.10:g.89649199C>T	gnomAD
KIF7	Q2M1P5	p.Arg234His	rs898910099	missense variant	-	NC_000015.10:g.89649196C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg234Cys	rs1302507562	missense variant	-	NC_000015.10:g.89649197G>A	gnomAD
KIF7	Q2M1P5	p.Leu235Pro	rs1325517056	missense variant	-	NC_000015.10:g.89649193A>G	gnomAD
KIF7	Q2M1P5	p.Pro236Ser	rs1391078591	missense variant	-	NC_000015.10:g.89649191G>A	gnomAD
KIF7	Q2M1P5	p.Arg237Leu	rs529571444	missense variant	-	NC_000015.10:g.89649187C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg237His	rs529571444	missense variant	-	NC_000015.10:g.89649187C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro238His	rs1178081116	missense variant	-	NC_000015.10:g.89649184G>T	gnomAD
KIF7	Q2M1P5	p.Pro238Ser	rs1378146452	missense variant	-	NC_000015.10:g.89649185G>A	gnomAD
KIF7	Q2M1P5	p.Ala239Thr	rs1394292136	missense variant	-	NC_000015.10:g.89649182C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala239Asp	rs1188936390	missense variant	-	NC_000015.10:g.89649181G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala239Ser	rs1394292136	missense variant	-	NC_000015.10:g.89649182C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro240Leu	RCV000310560	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649178G>A	ClinVar
KIF7	Q2M1P5	p.Pro240Leu	rs886051539	missense variant	-	NC_000015.10:g.89649178G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly241Cys	RCV000481380	missense variant	-	NC_000015.10:g.89649176C>A	ClinVar
KIF7	Q2M1P5	p.Gly241Cys	rs1004531343	missense variant	-	NC_000015.10:g.89649176C>A	-
KIF7	Q2M1P5	p.Gly241Asp	rs1207566281	missense variant	-	NC_000015.10:g.89649175C>T	gnomAD
KIF7	Q2M1P5	p.Gln242Arg	rs1483258643	missense variant	-	NC_000015.10:g.89649172T>C	gnomAD
KIF7	Q2M1P5	p.Val245Ile	rs1212811357	missense variant	-	NC_000015.10:g.89649164C>T	gnomAD
KIF7	Q2M1P5	p.Val245Leu	rs1212811357	missense variant	-	NC_000015.10:g.89649164C>G	gnomAD
KIF7	Q2M1P5	p.Ser246Tyr	rs1310928668	missense variant	-	NC_000015.10:g.89649160G>T	gnomAD
KIF7	Q2M1P5	p.Lys247Asn	RCV000592932	missense variant	-	NC_000015.10:g.89649156C>A	ClinVar
KIF7	Q2M1P5	p.Lys247Asn	rs1249751684	missense variant	-	NC_000015.10:g.89649156C>A	TOPMed
KIF7	Q2M1P5	p.His249Gln	rs1046713732	missense variant	-	NC_000015.10:g.89649150G>C	TOPMed
KIF7	Q2M1P5	p.Val251Met	rs1257010266	missense variant	-	NC_000015.10:g.89649146C>T	TOPMed
KIF7	Q2M1P5	p.Ala254Val	rs1367625488	missense variant	-	NC_000015.10:g.89649136G>A	gnomAD
KIF7	Q2M1P5	p.Ser256Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.89649130G>C	NCI-TCGA
KIF7	Q2M1P5	p.Glu257Lys	rs1381743319	missense variant	-	NC_000015.10:g.89649128C>T	gnomAD
KIF7	Q2M1P5	p.Arg258Lys	rs762429906	missense variant	-	NC_000015.10:g.89649124C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg258Met	rs762429906	missense variant	-	NC_000015.10:g.89649124C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg258Thr	rs762429906	missense variant	-	NC_000015.10:g.89649124C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val259Met	rs1464522973	missense variant	-	NC_000015.10:g.89649122C>T	gnomAD
KIF7	Q2M1P5	p.Leu260Phe	rs1420636784	missense variant	-	NC_000015.10:g.89649119G>A	TOPMed
KIF7	Q2M1P5	p.Thr262Met	RCV000414683	missense variant	-	NC_000015.10:g.89649112G>A	ClinVar
KIF7	Q2M1P5	p.Thr262Met	rs1057518271	missense variant	-	NC_000015.10:g.89649112G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly263Cys	rs1169060633	missense variant	-	NC_000015.10:g.89649110C>A	gnomAD
KIF7	Q2M1P5	p.Ser264Asn	rs936542223	missense variant	-	NC_000015.10:g.89649106C>T	gnomAD
KIF7	Q2M1P5	p.Ser264Ile	rs936542223	missense variant	-	NC_000015.10:g.89649106C>A	gnomAD
KIF7	Q2M1P5	p.Thr265Asn	rs1191970042	missense variant	-	NC_000015.10:g.89649103G>T	gnomAD
KIF7	Q2M1P5	p.Gly266Ser	rs939728328	missense variant	-	NC_000015.10:g.89649101C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly266Val	rs886795645	missense variant	-	NC_000015.10:g.89649100C>A	TOPMed
KIF7	Q2M1P5	p.Arg268Gln	rs1485011167	missense variant	-	NC_000015.10:g.89649094C>T	gnomAD
KIF7	Q2M1P5	p.Lys270Glu	rs1280161973	missense variant	-	NC_000015.10:g.89649089T>C	gnomAD
KIF7	Q2M1P5	p.Glu271Ter	RCV000023887	frameshift	Joubert syndrome 12 (JBTS12)	NC_000015.10:g.89649087del	ClinVar
KIF7	Q2M1P5	p.Glu271Ter	RCV000023888	frameshift	Joubert syndrome 12/15, digenic	NC_000015.10:g.89649087del	ClinVar
KIF7	Q2M1P5	p.Glu271Asp	rs978833977	missense variant	-	NC_000015.10:g.89649084C>G	TOPMed
KIF7	Q2M1P5	p.Asn276Lys	rs1344695594	missense variant	-	NC_000015.10:g.89649069G>T	gnomAD
KIF7	Q2M1P5	p.Asn276Asp	rs1279913376	missense variant	-	NC_000015.10:g.89649071T>C	TOPMed
KIF7	Q2M1P5	p.Ser278Thr	rs1272790387	missense variant	-	NC_000015.10:g.89649064C>G	gnomAD
KIF7	Q2M1P5	p.Leu279Phe	rs762568380	missense variant	-	NC_000015.10:g.89649062G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu280Val	rs1362384117	missense variant	-	NC_000015.10:g.89649059G>C	TOPMed
KIF7	Q2M1P5	p.Leu280Pro	RCV000722752	missense variant	-	NC_000015.10:g.89649058A>G	ClinVar
KIF7	Q2M1P5	p.Ala281Thr	rs1315005502	missense variant	-	NC_000015.10:g.89649056C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu282ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.89649052A>-	NCI-TCGA
KIF7	Q2M1P5	p.Val285Ile	rs913243558	missense variant	-	NC_000015.10:g.89649044C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala288Thr	rs1308503261	missense variant	-	NC_000015.10:g.89649035C>T	gnomAD
KIF7	Q2M1P5	p.Leu289Val	rs769602777	missense variant	-	NC_000015.10:g.89649032G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly290Glu	rs531693490	missense variant	-	NC_000015.10:g.89649028C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp291Asn	rs1167075751	missense variant	-	NC_000015.10:g.89649026C>T	gnomAD
KIF7	Q2M1P5	p.Asp291Gly	rs1484840047	missense variant	-	NC_000015.10:g.89649025T>C	TOPMed
KIF7	Q2M1P5	p.Asp291Glu	rs1458141610	missense variant	-	NC_000015.10:g.89649024G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg294Leu	rs749675548	missense variant	-	NC_000015.10:g.89649016C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg295Trp	rs1474561355	missense variant	-	NC_000015.10:g.89649014G>A	gnomAD
KIF7	Q2M1P5	p.Arg295Gln	rs1257458364	missense variant	-	NC_000015.10:g.89649013C>T	gnomAD
KIF7	Q2M1P5	p.Arg295Leu	rs1257458364	missense variant	-	NC_000015.10:g.89649013C>A	gnomAD
KIF7	Q2M1P5	p.Gly296Asp	rs776621314	missense variant	-	NC_000015.10:g.89649010C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly296Ala	rs776621314	missense variant	-	NC_000015.10:g.89649010C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.His298Asp	rs1198671838	missense variant	-	NC_000015.10:g.89649005G>C	gnomAD
KIF7	Q2M1P5	p.His298Arg	rs1195572623	missense variant	-	NC_000015.10:g.89649004T>C	gnomAD
KIF7	Q2M1P5	p.Pro300Ala	rs1427809417	missense variant	-	NC_000015.10:g.89648999G>C	TOPMed
KIF7	Q2M1P5	p.Arg302Cys	rs1267389546	missense variant	-	NC_000015.10:g.89648993G>A	gnomAD
KIF7	Q2M1P5	p.Arg302Leu	rs1242723111	missense variant	-	NC_000015.10:g.89648992C>A	gnomAD
KIF7	Q2M1P5	p.Asp303Asn	rs1393932372	missense variant	-	NC_000015.10:g.89648990C>T	TOPMed
KIF7	Q2M1P5	p.Ser304Cys	rs747038002	missense variant	-	NC_000015.10:g.89648986G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser304Phe	rs747038002	missense variant	-	NC_000015.10:g.89648986G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys305Arg	rs1411628239	missense variant	-	NC_000015.10:g.89648983T>C	gnomAD
KIF7	Q2M1P5	p.Ile306Val	rs564429116	missense variant	-	NC_000015.10:g.89648981T>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr307Ser	rs1287072764	missense variant	-	NC_000015.10:g.89648977G>C	TOPMed
KIF7	Q2M1P5	p.Thr307Ser	rs954983148	missense variant	-	NC_000015.10:g.89648978T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg308Leu	rs184038436	missense variant	-	NC_000015.10:g.89648974C>A	gnomAD
KIF7	Q2M1P5	p.Arg308Trp	rs1392444900	missense variant	-	NC_000015.10:g.89648975G>A	gnomAD
KIF7	Q2M1P5	p.Arg308Gln	rs184038436	missense variant	-	NC_000015.10:g.89648974C>T	gnomAD
KIF7	Q2M1P5	p.Ile309Met	rs965570507	missense variant	-	NC_000015.10:g.89648771G>C	TOPMed
KIF7	Q2M1P5	p.Lys311Asn	rs1019422988	missense variant	-	NC_000015.10:g.89648765T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu314Gln	rs1320675092	missense variant	-	NC_000015.10:g.89648757A>T	TOPMed
KIF7	Q2M1P5	p.Gly316Arg	rs1383459229	missense variant	-	NC_000015.10:g.89648752C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala318Thr	RCV000368715	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648746C>T	ClinVar
KIF7	Q2M1P5	p.Ala318Thr	rs756368261	missense variant	-	NC_000015.10:g.89648746C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala318Val	rs1379776774	missense variant	-	NC_000015.10:g.89648745G>A	gnomAD
KIF7	Q2M1P5	p.Lys319Asn	rs1192120835	missense variant	-	NC_000015.10:g.89648741C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val321Leu	rs1454043852	missense variant	-	NC_000015.10:g.89648737C>A	gnomAD
KIF7	Q2M1P5	p.Val321Ala	rs913347544	missense variant	-	NC_000015.10:g.89648736A>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Met322Val	rs1210677295	missense variant	-	NC_000015.10:g.89648734T>C	gnomAD
KIF7	Q2M1P5	p.Ile323Phe	rs1048051000	missense variant	-	NC_000015.10:g.89648731T>A	TOPMed
KIF7	Q2M1P5	p.Ile323Val	rs1048051000	missense variant	-	NC_000015.10:g.89648731T>C	TOPMed
KIF7	Q2M1P5	p.Ala324Thr	rs1445303271	missense variant	-	NC_000015.10:g.89648728C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser327Asn	rs1201005975	missense variant	-	NC_000015.10:g.89648718C>T	gnomAD
KIF7	Q2M1P5	p.Pro328His	RCV000722761	missense variant	-	NC_000015.10:g.89648715G>T	ClinVar
KIF7	Q2M1P5	p.Pro328Ser	rs1347007869	missense variant	-	NC_000015.10:g.89648716G>A	gnomAD
KIF7	Q2M1P5	p.Ser329Pro	rs1301049354	missense variant	-	NC_000015.10:g.89648713A>G	gnomAD
KIF7	Q2M1P5	p.Asp332Asn	rs1315039116	missense variant	-	NC_000015.10:g.89648704C>T	TOPMed
KIF7	Q2M1P5	p.Asp334Asn	COSM966371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89648698C>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Leu337Phe	rs995129517	missense variant	-	NC_000015.10:g.89648689G>A	TOPMed
KIF7	Q2M1P5	p.Asn338Ser	RCV000117409	missense variant	-	NC_000015.10:g.89648685T>C	ClinVar
KIF7	Q2M1P5	p.Asn338Ser	rs587780373	missense variant	-	NC_000015.10:g.89648685T>C	-
KIF7	Q2M1P5	p.Thr339Pro	rs1479773810	missense variant	-	NC_000015.10:g.89648683T>G	gnomAD
KIF7	Q2M1P5	p.Leu340Pro	rs781662732	missense variant	-	NC_000015.10:g.89648679A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Asn341Ser	rs757699508	missense variant	-	NC_000015.10:g.89648676T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn341Lys	rs1172236161	missense variant	-	NC_000015.10:g.89648675G>T	gnomAD
KIF7	Q2M1P5	p.Tyr342Phe	RCV000594690	missense variant	-	NC_000015.10:g.89648673T>A	ClinVar
KIF7	Q2M1P5	p.Tyr342Ter	rs1270119343	stop gained	-	NC_000015.10:g.89648672G>C	TOPMed
KIF7	Q2M1P5	p.Tyr342His	rs894763666	missense variant	-	NC_000015.10:g.89648674A>G	TOPMed
KIF7	Q2M1P5	p.Tyr342Phe	rs372182012	missense variant	-	NC_000015.10:g.89648673T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala343Pro	rs536645226	missense variant	-	NC_000015.10:g.89648671C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala343Thr	rs536645226	missense variant	-	NC_000015.10:g.89648671C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg345His	rs764533193	missense variant	-	NC_000015.10:g.89648664C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala346Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89648661G>A	NCI-TCGA
KIF7	Q2M1P5	p.Gln347Ter	rs1444126569	stop gained	-	NC_000015.10:g.89648659G>A	gnomAD
KIF7	Q2M1P5	p.Arg350Leu	rs1202374747	missense variant	-	NC_000015.10:g.89648649C>A	TOPMed
KIF7	Q2M1P5	p.Asn351Lys	rs1278014219	missense variant	-	NC_000015.10:g.89648645G>T	gnomAD
KIF7	Q2M1P5	p.Arg352His	rs1342551459	missense variant	-	NC_000015.10:g.89648643C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg352Cys	rs1209902228	missense variant	-	NC_000015.10:g.89648644G>A	gnomAD
KIF7	Q2M1P5	p.Ala353Ser	rs928814459	missense variant	-	NC_000015.10:g.89648641C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala353Pro	rs928814459	missense variant	-	NC_000015.10:g.89648641C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala353Thr	rs928814459	missense variant	-	NC_000015.10:g.89648641C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val355Ile	rs1209636794	missense variant	-	NC_000015.10:g.89648635C>T	TOPMed
KIF7	Q2M1P5	p.Asn356His	rs1255141600	missense variant	-	NC_000015.10:g.89648632T>G	TOPMed
KIF7	Q2M1P5	p.Trp357Gly	rs1449579286	missense variant	-	NC_000015.10:g.89648629A>C	gnomAD
KIF7	Q2M1P5	p.Pro359Thr	rs1357923425	missense variant	-	NC_000015.10:g.89648623G>T	gnomAD
KIF7	Q2M1P5	p.Glu360Lys	rs1311533687	missense variant	-	NC_000015.10:g.89648620C>T	gnomAD
KIF7	Q2M1P5	p.Glu362Gln	rs752296699	missense variant	-	NC_000015.10:g.89648614C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg363Gln	rs1400779200	missense variant	-	NC_000015.10:g.89648610C>T	gnomAD
KIF7	Q2M1P5	p.Pro364Ser	rs764965490	missense variant	-	NC_000015.10:g.89648608G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro365Thr	RCV000179055	missense variant	-	NC_000015.10:g.89648605G>T	ClinVar
KIF7	Q2M1P5	p.Pro365Leu	rs1163910200	missense variant	-	NC_000015.10:g.89648604G>A	gnomAD
KIF7	Q2M1P5	p.Pro365Ala	rs794727742	missense variant	-	NC_000015.10:g.89648605G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro365Thr	rs794727742	missense variant	-	NC_000015.10:g.89648605G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu366Lys	rs1473783632	missense variant	-	NC_000015.10:g.89648602C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu367Val	rs1255343241	missense variant	-	NC_000015.10:g.89648598T>A	gnomAD
KIF7	Q2M1P5	p.Glu367Asp	rs1187090250	missense variant	-	NC_000015.10:g.89648597C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr368Ala	RCV000082811	missense variant	-	NC_000015.10:g.89648596T>C	ClinVar
KIF7	Q2M1P5	p.Thr368Pro	rs8037349	missense variant	-	NC_000015.10:g.89648596T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr368Lys	rs1253774672	missense variant	-	NC_000015.10:g.89648595G>T	gnomAD
KIF7	Q2M1P5	p.Thr368Ala	RCV000394862	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648596T>C	ClinVar
KIF7	Q2M1P5	p.Thr368Ala	rs8037349	missense variant	-	NC_000015.10:g.89648596T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala369Glu	rs1202169554	missense variant	-	NC_000015.10:g.89648592G>T	gnomAD
KIF7	Q2M1P5	p.Ala369Ter	RCV000400594	frameshift	-	NC_000015.10:g.89648592del	ClinVar
KIF7	Q2M1P5	p.Ser370Asn	rs1439252969	missense variant	-	NC_000015.10:g.89648589C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser370Thr	rs1439252969	missense variant	-	NC_000015.10:g.89648589C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly371Asp	rs1290065337	missense variant	-	NC_000015.10:g.89648586C>T	gnomAD
KIF7	Q2M1P5	p.Gly371Ser	rs1306629173	missense variant	-	NC_000015.10:g.89648587C>T	gnomAD
KIF7	Q2M1P5	p.Ala372Glu	rs1331968966	missense variant	-	NC_000015.10:g.89648583G>T	gnomAD
KIF7	Q2M1P5	p.Ala372Ser	rs1229552986	missense variant	-	NC_000015.10:g.89648584C>A	gnomAD
KIF7	Q2M1P5	p.Ala372Val	rs1331968966	missense variant	-	NC_000015.10:g.89648583G>A	gnomAD
KIF7	Q2M1P5	p.Ala372Thr	rs1229552986	missense variant	-	NC_000015.10:g.89648584C>T	gnomAD
KIF7	Q2M1P5	p.Arg373Pro	rs1292098815	missense variant	-	NC_000015.10:g.89648580C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg373Gln	rs1292098815	missense variant	-	NC_000015.10:g.89648580C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly374Cys	rs1233260819	missense variant	-	NC_000015.10:g.89648578C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly374Val	rs1351627537	missense variant	-	NC_000015.10:g.89648577C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly374Asp	rs1351627537	missense variant	-	NC_000015.10:g.89648577C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro375Leu	rs557460012	missense variant	-	NC_000015.10:g.89648574G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro375Ser	rs1300335031	missense variant	-	NC_000015.10:g.89648575G>A	gnomAD
KIF7	Q2M1P5	p.Pro375Gln	rs557460012	missense variant	-	NC_000015.10:g.89648574G>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro376Leu	rs1324387832	missense variant	-	NC_000015.10:g.89648571G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg377Leu	rs539554255	missense variant	-	NC_000015.10:g.89648568C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg377Trp	rs1463110793	missense variant	-	NC_000015.10:g.89648569G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg377Gln	rs539554255	missense variant	-	NC_000015.10:g.89648568C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg377Pro	rs539554255	missense variant	-	NC_000015.10:g.89648568C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.His378Gln	rs760397762	missense variant	-	NC_000015.10:g.89648564G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.His378Pro	rs1164279929	missense variant	-	NC_000015.10:g.89648565T>G	gnomAD
KIF7	Q2M1P5	p.Arg379Pro	rs1414086463	missense variant	-	NC_000015.10:g.89648562C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg379Leu	rs1414086463	missense variant	-	NC_000015.10:g.89648562C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser380Cys	rs914657562	missense variant	-	NC_000015.10:g.89648559G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu381Asp	rs1180657517	missense variant	-	NC_000015.10:g.89648555C>A	gnomAD
KIF7	Q2M1P5	p.Glu381Ter	rs565416052	stop gained	-	NC_000015.10:g.89648557C>A	1000Genomes,TOPMed
KIF7	Q2M1P5	p.Glu381Lys	rs565416052	missense variant	-	NC_000015.10:g.89648557C>T	1000Genomes,TOPMed
KIF7	Q2M1P5	p.Thr382Ile	rs1246950817	missense variant	-	NC_000015.10:g.89648553G>A	gnomAD
KIF7	Q2M1P5	p.Arg383Leu	rs1223367049	missense variant	-	NC_000015.10:g.89648550C>A	gnomAD
KIF7	Q2M1P5	p.Ile384Asn	rs990184526	missense variant	-	NC_000015.10:g.89648547A>T	TOPMed
KIF7	Q2M1P5	p.His386Gln	rs1208805083	missense variant	-	NC_000015.10:g.89648540G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.His386Leu	RCV000335286	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648541T>A	ClinVar
KIF7	Q2M1P5	p.His386Leu	rs886051537	missense variant	-	NC_000015.10:g.89648541T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg387Ser	rs587780374	missense variant	-	NC_000015.10:g.89648539G>T	gnomAD
KIF7	Q2M1P5	p.Arg387Ser	RCV000117410	missense variant	-	NC_000015.10:g.89648539G>T	ClinVar
KIF7	Q2M1P5	p.Gly388Val	rs1443757855	missense variant	-	NC_000015.10:g.89648535C>A	TOPMed
KIF7	Q2M1P5	p.Gly388Ser	rs773149035	missense variant	-	NC_000015.10:g.89648536C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg389Trp	rs1373000195	missense variant	-	NC_000015.10:g.89648533G>A	gnomAD
KIF7	Q2M1P5	p.Arg389Gln	rs1371167571	missense variant	-	NC_000015.10:g.89648532C>T	TOPMed
KIF7	Q2M1P5	p.Gly393Cys	rs553968087	missense variant	-	NC_000015.10:g.89648521C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly393Cys	RCV000298981	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648521C>A	ClinVar
KIF7	Q2M1P5	p.Gly393Cys	RCV000725358	missense variant	-	NC_000015.10:g.89648521C>A	ClinVar
KIF7	Q2M1P5	p.Gly393Cys	RCV000764005	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648521C>A	ClinVar
KIF7	Q2M1P5	p.Pro394Ser	rs1298790380	missense variant	-	NC_000015.10:g.89648518G>A	TOPMed
KIF7	Q2M1P5	p.Ala397Thr	rs535621809	missense variant	-	NC_000015.10:g.89648509C>T	1000Genomes,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala397Val	rs1004008713	missense variant	-	NC_000015.10:g.89648508G>A	TOPMed
KIF7	Q2M1P5	p.Ala397Thr	RCV000273740	missense variant	-	NC_000015.10:g.89648509C>T	ClinVar
KIF7	Q2M1P5	p.Ser398Pro	rs1326725262	missense variant	-	NC_000015.10:g.89648506A>G	TOPMed
KIF7	Q2M1P5	p.Ala400Thr	rs1273718375	missense variant	-	NC_000015.10:g.89648500C>T	TOPMed
KIF7	Q2M1P5	p.Ala401Gly	rs1189578884	missense variant	-	NC_000015.10:g.89648496G>C	TOPMed
KIF7	Q2M1P5	p.Met403Thr	rs1419911490	missense variant	-	NC_000015.10:g.89648490A>G	TOPMed
KIF7	Q2M1P5	p.Arg404His	rs1283535550	missense variant	-	NC_000015.10:g.89648487C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly406Ala	rs1463332375	missense variant	-	NC_000015.10:g.89648481C>G	TOPMed
KIF7	Q2M1P5	p.Ala407Asp	rs587780375	missense variant	-	NC_000015.10:g.89648478G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala407Ser	rs1457777027	missense variant	-	NC_000015.10:g.89648479C>A	gnomAD
KIF7	Q2M1P5	p.Ala407Val	rs587780375	missense variant	-	NC_000015.10:g.89648478G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala407Asp	RCV000531754	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648478G>T	ClinVar
KIF7	Q2M1P5	p.Glu408Val	rs1305842397	missense variant	-	NC_000015.10:g.89648475T>A	TOPMed
KIF7	Q2M1P5	p.Glu408Lys	rs1374799870	missense variant	-	NC_000015.10:g.89648476C>T	TOPMed
KIF7	Q2M1P5	p.Ala410Val	rs1234874847	missense variant	-	NC_000015.10:g.89648469G>A	TOPMed
KIF7	Q2M1P5	p.Arg413Gly	rs1334100370	missense variant	-	NC_000015.10:g.89648461G>C	TOPMed
KIF7	Q2M1P5	p.Ala414Thr	rs1219215322	missense variant	-	NC_000015.10:g.89648458C>T	TOPMed
KIF7	Q2M1P5	p.Cys415Ser	rs1418318479	missense variant	-	NC_000015.10:g.89648454C>G	gnomAD
KIF7	Q2M1P5	p.Cys415Phe	rs1418318479	missense variant	-	NC_000015.10:g.89648454C>A	gnomAD
KIF7	Q2M1P5	p.Ala418Val	rs1334118917	missense variant	-	NC_000015.10:g.89648445G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala419Ser	rs1192692567	missense variant	-	NC_000015.10:g.89648443C>A	gnomAD
KIF7	Q2M1P5	p.Ser421Asn	RCV000500775	missense variant	-	NC_000015.10:g.89648436C>T	ClinVar
KIF7	Q2M1P5	p.Ser421Asn	rs1555424863	missense variant	-	NC_000015.10:g.89648436C>T	-
KIF7	Q2M1P5	p.Leu422Phe	rs1003549826	missense variant	-	NC_000015.10:g.89648434G>A	TOPMed
KIF7	Q2M1P5	p.Leu422Val	rs1003549826	missense variant	-	NC_000015.10:g.89648434G>C	TOPMed
KIF7	Q2M1P5	p.Arg424Cys	rs550404869	missense variant	-	NC_000015.10:g.89648428G>A	1000Genomes,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg424Cys	RCV000179052	missense variant	-	NC_000015.10:g.89648428G>A	ClinVar
KIF7	Q2M1P5	p.Glu429Lys	rs946190172	missense variant	-	NC_000015.10:g.89648413C>T	TOPMed
KIF7	Q2M1P5	p.Glu429Asp	rs1297297468	missense variant	-	NC_000015.10:g.89648411C>A	TOPMed
KIF7	Q2M1P5	p.Pro430Ala	rs1368352498	missense variant	-	NC_000015.10:g.89648410G>C	TOPMed
KIF7	Q2M1P5	p.Gly431Arg	rs1293694840	missense variant	-	NC_000015.10:g.89648407C>T	TOPMed
KIF7	Q2M1P5	p.Pro433Thr	rs932033181	missense variant	-	NC_000015.10:g.89648401G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro433Leu	rs1297621505	missense variant	-	NC_000015.10:g.89648400G>A	TOPMed
KIF7	Q2M1P5	p.Pro433Thr	RCV000722741	missense variant	-	NC_000015.10:g.89648401_89648402delinsTT	ClinVar
KIF7	Q2M1P5	p.Gly434Arg	rs1272520977	missense variant	-	NC_000015.10:g.89648398C>G	TOPMed
KIF7	Q2M1P5	p.Ala435Val	rs976073468	missense variant	-	NC_000015.10:g.89648394G>A	TOPMed
KIF7	Q2M1P5	p.Ala436Val	rs943953208	missense variant	-	NC_000015.10:g.89648391G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala437Thr	rs912476277	missense variant	-	NC_000015.10:g.89648389C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala437Ser	rs912476277	missense variant	-	NC_000015.10:g.89648389C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg438Cys	rs1263045856	missense variant	-	NC_000015.10:g.89648386G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg438His	rs1428404363	missense variant	-	NC_000015.10:g.89648385C>T	TOPMed
KIF7	Q2M1P5	p.Arg441His	rs1214331197	missense variant	-	NC_000015.10:g.89648376C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg441Leu	rs1214331197	missense variant	-	NC_000015.10:g.89648376C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp442Tyr	rs747307729	missense variant	-	NC_000015.10:g.89648374C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Trp443Ter	rs1444012324	stop gained	-	NC_000015.10:g.89648369C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Trp443Arg	rs749334538	missense variant	-	NC_000015.10:g.89648371A>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Cys445Ter	rs531899410	stop gained	-	NC_000015.10:g.89648363G>T	1000Genomes
KIF7	Q2M1P5	p.Ala446Asp	rs951204252	missense variant	-	NC_000015.10:g.89648361G>T	TOPMed
KIF7	Q2M1P5	p.Glu450Lys	rs1302882729	missense variant	-	NC_000015.10:g.89648350C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg451Ser	rs1364124129	missense variant	-	NC_000015.10:g.89648347G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala453Val	RCV000379358	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648340G>A	ClinVar
KIF7	Q2M1P5	p.Ala453Asp	rs886051532	missense variant	-	NC_000015.10:g.89648340G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala453Val	rs886051532	missense variant	-	NC_000015.10:g.89648340G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser455Cys	rs1359666117	missense variant	-	NC_000015.10:g.89648335T>A	gnomAD
KIF7	Q2M1P5	p.Ser456Phe	rs1175288371	missense variant	-	NC_000015.10:g.89648331G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala457Asp	rs1394120733	missense variant	-	NC_000015.10:g.89648328G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly459Arg	rs1485836507	missense variant	-	NC_000015.10:g.89648323C>T	TOPMed
KIF7	Q2M1P5	p.Pro460Ser	rs1429893583	missense variant	-	NC_000015.10:g.89648320G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro460Thr	rs1429893583	missense variant	-	NC_000015.10:g.89648320G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp461Asn	rs1185420675	missense variant	-	NC_000015.10:g.89648317C>T	gnomAD
KIF7	Q2M1P5	p.Ser462Gly	rs1455184212	missense variant	-	NC_000015.10:g.89648314T>C	TOPMed
KIF7	Q2M1P5	p.Gly463Ser	rs1485867610	missense variant	-	NC_000015.10:g.89648311C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly463Asp	rs1238493916	missense variant	-	NC_000015.10:g.89648310C>T	gnomAD
KIF7	Q2M1P5	p.Ile464Met	rs1355045012	missense variant	-	NC_000015.10:g.89648306G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ile464Val	rs570856269	missense variant	-	NC_000015.10:g.89648308T>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ile464Val	RCV000322469	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648308T>C	ClinVar
KIF7	Q2M1P5	p.Ser466Gly	rs1346111280	missense variant	-	NC_000015.10:g.89648302T>C	gnomAD
KIF7	Q2M1P5	p.Ala467Val	rs1229468079	missense variant	-	NC_000015.10:g.89648298G>A	gnomAD
KIF7	Q2M1P5	p.Ser468Thr	rs1309467371	missense variant	-	NC_000015.10:g.89648296A>T	gnomAD
KIF7	Q2M1P5	p.Asp471Ala	rs922192277	missense variant	-	NC_000015.10:g.89648286T>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala473Val	rs794727744	missense variant	-	NC_000015.10:g.89648280G>A	gnomAD
KIF7	Q2M1P5	p.Ala473Gly	RCV000179057	missense variant	-	NC_000015.10:g.89648280G>C	ClinVar
KIF7	Q2M1P5	p.Ala473Gly	rs794727744	missense variant	-	NC_000015.10:g.89648280G>C	gnomAD
KIF7	Q2M1P5	p.Ala474Val	rs1374666466	missense variant	-	NC_000015.10:g.89648277G>A	gnomAD
KIF7	Q2M1P5	p.Ala474Thr	rs746154896	missense variant	-	NC_000015.10:g.89648278C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln475Pro	rs963508592	missense variant	-	NC_000015.10:g.89648274T>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly476Trp	rs932064476	missense variant	-	NC_000015.10:g.89648272C>A	TOPMed
KIF7	Q2M1P5	p.Ala477Thr	rs527804875	missense variant	-	NC_000015.10:g.89648269C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala477Thr	RCV000248504	missense variant	-	NC_000015.10:g.89648269C>T	ClinVar
KIF7	Q2M1P5	p.Gly478Asp	rs1040813926	missense variant	-	NC_000015.10:g.89648265C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys481Arg	rs1190648779	missense variant	-	NC_000015.10:g.89648256T>C	gnomAD
KIF7	Q2M1P5	p.Glu482Val	rs1045937674	missense variant	-	NC_000015.10:g.89647711T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu484Lys	rs900459039	missense variant	-	NC_000015.10:g.89647706C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala486Val	rs1305987882	missense variant	-	NC_000015.10:g.89647699G>A	gnomAD
KIF7	Q2M1P5	p.Ala486Ser	rs776875275	missense variant	-	NC_000015.10:g.89647700C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala486Thr	rs776875275	missense variant	-	NC_000015.10:g.89647700C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln487Lys	rs1396213606	missense variant	-	NC_000015.10:g.89647697G>T	gnomAD
KIF7	Q2M1P5	p.Leu489Met	rs747377638	missense variant	-	NC_000015.10:g.89647691G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr491Asn	rs778060579	missense variant	-	NC_000015.10:g.89647684G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln493Ter	rs1455773792	stop gained	-	NC_000015.10:g.89647679G>A	gnomAD
KIF7	Q2M1P5	p.Asn494Ser	rs1313323843	missense variant	-	NC_000015.10:g.89647675T>C	TOPMed
KIF7	Q2M1P5	p.Asn494Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89647674G>C	NCI-TCGA
KIF7	Q2M1P5	p.Gln495His	rs1362468897	missense variant	-	NC_000015.10:g.89647671C>A	gnomAD
KIF7	Q2M1P5	p.Val496Leu	rs758971206	missense variant	-	NC_000015.10:g.89647670C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala497Val	rs201380238	missense variant	-	NC_000015.10:g.89647666G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg498Trp	rs779573009	missense variant	-	NC_000015.10:g.89647664G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg498Gln	rs754486000	missense variant	-	NC_000015.10:g.89647663C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu500Gly	rs1206868473	missense variant	-	NC_000015.10:g.89647657T>C	gnomAD
KIF7	Q2M1P5	p.Glu501Lys	rs1348428914	missense variant	-	NC_000015.10:g.89647655C>T	gnomAD
KIF7	Q2M1P5	p.Arg504Ter	rs755770116	stop gained	-	NC_000015.10:g.89647646G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp505Glu	rs377280724	missense variant	-	NC_000015.10:g.89647641G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Phe506Cys	rs761599926	missense variant	-	NC_000015.10:g.89647639A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Phe506Leu	rs767365479	missense variant	-	NC_000015.10:g.89647640A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu507Val	rs774225268	missense variant	-	NC_000015.10:g.89647637G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala508Ser	rs764052631	missense variant	-	NC_000015.10:g.89647634C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala509Val	rs1403008224	missense variant	-	NC_000015.10:g.89647630G>A	gnomAD
KIF7	Q2M1P5	p.Glu511Asp	rs1397142983	missense variant	-	NC_000015.10:g.89647623C>G	gnomAD
KIF7	Q2M1P5	p.Glu511Ala	rs771174344	missense variant	-	NC_000015.10:g.89647624T>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu511Ter	COSM6143160	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.89647625C>A	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Met514Ile	COSM3505305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89647614C>G	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Gln516Lys	rs1250146203	missense variant	-	NC_000015.10:g.89647610G>T	TOPMed
KIF7	Q2M1P5	p.Gln516Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.89647610G>A	NCI-TCGA
KIF7	Q2M1P5	p.Tyr517Ter	rs1453971108	stop gained	-	NC_000015.10:g.89647605G>T	gnomAD
KIF7	Q2M1P5	p.Lys518Gln	rs957015169	missense variant	-	NC_000015.10:g.89647604T>G	TOPMed
KIF7	Q2M1P5	p.Leu519Pro	rs773577708	missense variant	-	NC_000015.10:g.89647600A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu519Val	rs1242830030	missense variant	-	NC_000015.10:g.89647601G>C	gnomAD
KIF7	Q2M1P5	p.Gln520Arg	rs772511735	missense variant	-	NC_000015.10:g.89647597T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln520Ter	rs1445212362	stop gained	-	NC_000015.10:g.89647598G>A	gnomAD
KIF7	Q2M1P5	p.Gln520Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89647598G>T	NCI-TCGA
KIF7	Q2M1P5	p.Asp522Asn	rs774902437	missense variant	-	NC_000015.10:g.89647054C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp522His	rs774902437	missense variant	-	NC_000015.10:g.89647054C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg523Trp	rs946470040	missense variant	-	NC_000015.10:g.89647051G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg523Gln	rs769192339	missense variant	-	NC_000015.10:g.89647050C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg525Cys	rs780615343	missense variant	-	NC_000015.10:g.89647045G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg525His	rs769127608	missense variant	-	NC_000015.10:g.89647044C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu526Lys	rs1436845524	missense variant	-	NC_000015.10:g.89647042C>T	gnomAD
KIF7	Q2M1P5	p.Gln527Ter	rs1273337515	stop gained	-	NC_000015.10:g.89647039G>A	gnomAD
KIF7	Q2M1P5	p.Gln528Pro	rs142282670	missense variant	-	NC_000015.10:g.89647035T>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln528Arg	rs142282670	missense variant	-	NC_000015.10:g.89647035T>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu529Gln	rs377625808	missense variant	-	NC_000015.10:g.89647033C>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu530Ala	rs891654422	missense variant	-	NC_000015.10:g.89647029T>G	TOPMed
KIF7	Q2M1P5	p.Met531Leu	rs1364028483	missense variant	-	NC_000015.10:g.89647027T>A	TOPMed
KIF7	Q2M1P5	p.Met531Lys	rs1228139593	missense variant	-	NC_000015.10:g.89647026A>T	gnomAD
KIF7	Q2M1P5	p.Val532Ala	rs1224705606	missense variant	-	NC_000015.10:g.89647023A>G	TOPMed
KIF7	Q2M1P5	p.Glu533Lys	rs1374554878	missense variant	-	NC_000015.10:g.89647021C>T	gnomAD
KIF7	Q2M1P5	p.Glu533Gly	rs1276471321	missense variant	-	NC_000015.10:g.89647020T>C	TOPMed
KIF7	Q2M1P5	p.Leu534Met	rs751344600	missense variant	-	NC_000015.10:g.89647018G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu534Gln	rs777615277	missense variant	-	NC_000015.10:g.89647017A>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg535Trp	rs758219521	missense variant	-	NC_000015.10:g.89647015G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg535Gln	rs1326668086	missense variant	-	NC_000015.10:g.89647014C>T	gnomAD
KIF7	Q2M1P5	p.Arg535Pro	rs1326668086	missense variant	-	NC_000015.10:g.89647014C>G	gnomAD
KIF7	Q2M1P5	p.Arg537Gln	rs1163941455	missense variant	-	NC_000015.10:g.89647008C>T	gnomAD
KIF7	Q2M1P5	p.Arg537Trp	rs752524061	missense variant	-	NC_000015.10:g.89647009G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val541Met	rs1409958046	missense variant	-	NC_000015.10:g.89646997C>T	gnomAD
KIF7	Q2M1P5	p.Arg542Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89646993C>T	NCI-TCGA
KIF7	Q2M1P5	p.Pro543Leu	rs1194977061	missense variant	-	NC_000015.10:g.89646990G>A	gnomAD
KIF7	Q2M1P5	p.Trp545Cys	rs767823809	missense variant	-	NC_000015.10:g.89646983C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Trp545Ter	rs750567055	stop gained	-	NC_000015.10:g.89646984C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Trp545Leu	rs750567055	missense variant	-	NC_000015.10:g.89646984C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Trp545Ser	rs750567055	missense variant	-	NC_000015.10:g.89646984C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly546Glu	rs1221535786	missense variant	-	NC_000015.10:g.89646981C>T	gnomAD
KIF7	Q2M1P5	p.Gly547Cys	rs1247429462	missense variant	-	NC_000015.10:g.89646979C>A	TOPMed
KIF7	Q2M1P5	p.Gly547AlaPheSerTerUnk	rs774048463	frameshift	-	NC_000015.10:g.89646978C>-	NCI-TCGA,NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Pro548Leu	rs369168569	missense variant	-	NC_000015.10:g.89646975G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg549Ter	RCV000604949	frameshift	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89646977dup	ClinVar
KIF7	Q2M1P5	p.Arg549Leu	rs1222355686	missense variant	-	NC_000015.10:g.89646972C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg549Gln	rs1222355686	missense variant	-	NC_000015.10:g.89646972C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg549AlaPheSerTerUnkUnk	rs770571299	frameshift	-	NC_000015.10:g.89646977_89646978insC	NCI-TCGA,NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Leu550Phe	rs763388257	missense variant	-	NC_000015.10:g.89646970G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu551Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89646966A>G	NCI-TCGA
KIF7	Q2M1P5	p.Pro555Ser	rs151155363	missense variant	-	NC_000015.10:g.89646955G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro555Arg	rs745360830	missense variant	-	NC_000015.10:g.89646954G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly557Arg	rs780740523	missense variant	-	NC_000015.10:g.89646949C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly557Trp	rs780740523	missense variant	-	NC_000015.10:g.89646949C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser558Thr	rs746600720	missense variant	-	NC_000015.10:g.89646946A>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser558Tyr	COSM4943067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89646945G>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Pro561Leu	rs1217875912	missense variant	-	NC_000015.10:g.89646936G>A	gnomAD
KIF7	Q2M1P5	p.Pro561Ser	rs1325092086	missense variant	-	NC_000015.10:g.89646937G>A	TOPMed
KIF7	Q2M1P5	p.Pro561Thr	rs1325092086	missense variant	-	NC_000015.10:g.89646937G>T	TOPMed
KIF7	Q2M1P5	p.Pro561His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89646936G>T	NCI-TCGA
KIF7	Q2M1P5	p.Arg562Gln	rs777497706	missense variant	-	NC_000015.10:g.89646933C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg562Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.89646934G>A	NCI-TCGA
KIF7	Q2M1P5	p.Pro563Ser	rs548587196	missense variant	-	NC_000015.10:g.89646931G>A	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Thr565Ala	rs1244277390	missense variant	-	NC_000015.10:g.89646925T>C	gnomAD
KIF7	Q2M1P5	p.Ala566Val	rs536773143	missense variant	-	NC_000015.10:g.89646921G>A	1000Genomes,ExAC,TOPMed
KIF7	Q2M1P5	p.Ala566Gly	rs536773143	missense variant	-	NC_000015.10:g.89646921G>C	1000Genomes,ExAC,TOPMed
KIF7	Q2M1P5	p.Ala566Ser	rs1232303308	missense variant	-	NC_000015.10:g.89646922C>A	TOPMed
KIF7	Q2M1P5	p.Pro567Leu	rs1353389253	missense variant	-	NC_000015.10:g.89646918G>A	gnomAD
KIF7	Q2M1P5	p.Leu568ProPheSerTerUnkUnk	rs772716663	frameshift	-	NC_000015.10:g.89646915_89646916insG	NCI-TCGA,NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Leu568TrpPheSerTerUnkUnk	COSM1375354	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.89646916G>-	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Gly570Asp	RCV000413190	missense variant	-	NC_000015.10:g.89646909C>T	ClinVar
KIF7	Q2M1P5	p.Gly570Arg	rs569225496	missense variant	-	NC_000015.10:g.89646910C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly570Val	rs1057517751	missense variant	-	NC_000015.10:g.89646909C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly570ValPheSerTerUnkUnk	COSM2015651	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.89646909C>-	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Gly570Asp	rs1057517751	missense variant	-	NC_000015.10:g.89646909C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala571Thr	rs140185951	missense variant	-	NC_000015.10:g.89646907C>T	ESP,ExAC,TOPMed
KIF7	Q2M1P5	p.Ala571Val	rs1215172653	missense variant	-	NC_000015.10:g.89646906G>A	gnomAD
KIF7	Q2M1P5	p.His572Asn	rs761986123	missense variant	-	NC_000015.10:g.89646904G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala573Thr	rs369321011	missense variant	-	NC_000015.10:g.89646901C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val575Gly	rs1314470026	missense variant	-	NC_000015.10:g.89646894A>C	gnomAD
KIF7	Q2M1P5	p.Gly577Arg	rs1159063378	missense variant	-	NC_000015.10:g.89646889C>G	TOPMed
KIF7	Q2M1P5	p.Gly577Asp	rs963468113	missense variant	-	NC_000015.10:g.89646888C>T	TOPMed
KIF7	Q2M1P5	p.Met578Val	rs1294736804	missense variant	-	NC_000015.10:g.89646886T>C	TOPMed
KIF7	Q2M1P5	p.Val579Met	rs531366745	missense variant	-	NC_000015.10:g.89646883C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val579Leu	rs531366745	missense variant	-	NC_000015.10:g.89646883C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro580Leu	RCV000203145	missense variant	-	NC_000015.10:g.89646879G>A	ClinVar
KIF7	Q2M1P5	p.Pro580Leu	rs564412082	missense variant	-	NC_000015.10:g.89646879G>A	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Pro581Thr	rs769897141	missense variant	-	NC_000015.10:g.89646877G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro581Ala	rs769897141	missense variant	-	NC_000015.10:g.89646877G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu584Phe	rs770372033	missense variant	-	NC_000015.10:g.89646868G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Pro585Arg	rs1213467135	missense variant	-	NC_000015.10:g.89646864G>C	gnomAD
KIF7	Q2M1P5	p.Glu588Lys	rs746549341	missense variant	-	NC_000015.10:g.89646856C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu588Ala	rs772703638	missense variant	-	NC_000015.10:g.89646855T>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu592Gln	COSM458935	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89646844C>G	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Arg594Gly	rs1228276726	missense variant	-	NC_000015.10:g.89646838T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly595Arg	rs771793486	missense variant	-	NC_000015.10:g.89646835C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly595Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.89646835C>A	NCI-TCGA
KIF7	Q2M1P5	p.Val598Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89646023C>T	NCI-TCGA
KIF7	Q2M1P5	p.Thr599Ile	rs1331294307	missense variant	-	NC_000015.10:g.89646019G>A	TOPMed
KIF7	Q2M1P5	p.Asn600Asp	rs765678770	missense variant	-	NC_000015.10:g.89646017T>C	TOPMed
KIF7	Q2M1P5	p.Arg602Trp	rs756170615	missense variant	-	NC_000015.10:g.89646011T>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu603Lys	rs576856116	missense variant	-	NC_000015.10:g.89646008C>T	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Glu603Val	rs761922179	missense variant	-	NC_000015.10:g.89646007T>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala606Gly	rs758413579	missense variant	-	NC_000015.10:g.89645998G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu608Phe	rs201152117	missense variant	-	NC_000015.10:g.89645991C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu611Val	rs993149094	missense variant	-	NC_000015.10:g.89645983T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu611Gly	rs993149094	missense variant	-	NC_000015.10:g.89645983T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu611Lys	COSM1301558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89645984C>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Asn613Lys	rs752909113	missense variant	-	NC_000015.10:g.89645976G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg614Lys	rs1031698510	missense variant	-	NC_000015.10:g.89645974C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu615Met	rs765469300	missense variant	-	NC_000015.10:g.89645972G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu615Pro	rs1351864265	missense variant	-	NC_000015.10:g.89645971A>G	gnomAD
KIF7	Q2M1P5	p.Ser617Gly	rs755299478	missense variant	-	NC_000015.10:g.89645966T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly618Val	rs754245298	missense variant	-	NC_000015.10:g.89645962C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly618Asp	rs754245298	missense variant	-	NC_000015.10:g.89645962C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser620Leu	rs776869340	missense variant	-	NC_000015.10:g.89645956G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala621Gly	rs761298232	missense variant	-	NC_000015.10:g.89645953G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala622Thr	rs749893989	missense variant	-	NC_000015.10:g.89645951C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser623Ter	rs761241253	stop gained	-	NC_000015.10:g.89645947G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser623Ala	rs766982588	missense variant	-	NC_000015.10:g.89645948A>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu624Gly	rs1239886550	missense variant	-	NC_000015.10:g.89645944T>C	TOPMed
KIF7	Q2M1P5	p.Glu625Gly	rs1260155163	missense variant	-	NC_000015.10:g.89645941T>C	TOPMed
KIF7	Q2M1P5	p.Glu628Ter	rs768761617	stop gained	-	NC_000015.10:g.89645933C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu629Lys	rs149814240	missense variant	-	NC_000015.10:g.89645930C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu629Lys	RCV000253761	missense variant	-	NC_000015.10:g.89645930C>T	ClinVar
KIF7	Q2M1P5	p.Glu631Lys	COSM4825061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89645924C>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Pro632Leu	RCV000422196	missense variant	-	NC_000015.10:g.89645920G>A	ClinVar
KIF7	Q2M1P5	p.Pro632Arg	rs115857753	missense variant	-	NC_000015.10:g.89645920G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro632Ala	rs1254624184	missense variant	-	NC_000015.10:g.89645921G>C	TOPMed
KIF7	Q2M1P5	p.Pro632Leu	rs115857753	missense variant	-	NC_000015.10:g.89645920G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro633Ser	rs745753735	missense variant	-	NC_000015.10:g.89645918G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg635Pro	rs747191989	missense variant	-	NC_000015.10:g.89645911C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg635Trp	rs150543610	missense variant	-	NC_000015.10:g.89645912G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg635Gln	rs747191989	missense variant	-	NC_000015.10:g.89645911C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr636Ala	rs573596238	missense variant	-	NC_000015.10:g.89645909T>C	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Thr636Asn	rs1285010636	missense variant	-	NC_000015.10:g.89645908G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu637Phe	rs779079784	missense variant	-	NC_000015.10:g.89645904T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu637Ser	rs748210059	missense variant	-	NC_000015.10:g.89645905A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.His638Tyr	rs1231810846	missense variant	-	NC_000015.10:g.89645903G>A	gnomAD
KIF7	Q2M1P5	p.Arg640Cys	rs553948489	missense variant	-	NC_000015.10:g.89645897G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg640His	rs780460647	missense variant	-	NC_000015.10:g.89645896C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg641Gly	rs137905815	missense variant	Bardet-Biedl syndrome (BBS)	NC_000015.10:g.89645894T>C	UniProt,dbSNP
KIF7	Q2M1P5	p.Arg641Gly	VAR_066451	missense variant	Bardet-Biedl syndrome (BBS)	NC_000015.10:g.89645894T>C	UniProt
KIF7	Q2M1P5	p.Arg641Gly	rs137905815	missense variant	-	NC_000015.10:g.89645894T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg641Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89645893C>A	NCI-TCGA
KIF7	Q2M1P5	p.Asn642Ser	rs374723046	missense variant	-	NC_000015.10:g.89645449T>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn642Tyr	rs1444985152	missense variant	-	NC_000015.10:g.89645450T>A	TOPMed
KIF7	Q2M1P5	p.Arg643Gly	rs751109478	missense variant	-	NC_000015.10:g.89645447T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg643Ser	rs1282769058	missense variant	-	NC_000015.10:g.89645445C>A	gnomAD
KIF7	Q2M1P5	p.Ser645Asn	rs763632146	missense variant	-	NC_000015.10:g.89645440C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser645Gly	rs372447563	missense variant	-	NC_000015.10:g.89645441T>C	ESP
KIF7	Q2M1P5	p.Ser648Cys	rs757997374	missense variant	-	NC_000015.10:g.89645432T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln649Ter	rs1333457872	stop gained	-	NC_000015.10:g.89645429G>A	gnomAD
KIF7	Q2M1P5	p.Gln649Arg	rs1464082590	missense variant	-	NC_000015.10:g.89645428T>C	gnomAD
KIF7	Q2M1P5	p.Arg650Lys	rs1399497050	missense variant	-	NC_000015.10:g.89645425C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg650Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89645425C>A	NCI-TCGA
KIF7	Q2M1P5	p.Ala651Val	rs368611732	missense variant	-	NC_000015.10:g.89645422G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly652Ala	rs1411427676	missense variant	-	NC_000015.10:g.89645419C>G	gnomAD
KIF7	Q2M1P5	p.Gly652Glu	rs1411427676	missense variant	-	NC_000015.10:g.89645419C>T	gnomAD
KIF7	Q2M1P5	p.Ala653Val	rs776343307	missense variant	-	NC_000015.10:g.89645416G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala653Thr	rs759348347	missense variant	-	NC_000015.10:g.89645417C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala653Val	RCV000180716	missense variant	-	NC_000015.10:g.89645416G>A	ClinVar
KIF7	Q2M1P5	p.Arg654His	rs542994181	missense variant	-	NC_000015.10:g.89645413C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg654Cys	rs370083276	missense variant	-	NC_000015.10:g.89645414G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro655Leu	rs773135230	missense variant	-	NC_000015.10:g.89645410G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro655Arg	rs773135230	missense variant	-	NC_000015.10:g.89645410G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser657Thr	rs367617135	missense variant	-	NC_000015.10:g.89645404C>G	ESP,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser657Asn	rs367617135	missense variant	-	NC_000015.10:g.89645404C>T	ESP,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser657Gly	rs768662526	missense variant	-	NC_000015.10:g.89645405T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu660Asp	rs749391087	missense variant	-	NC_000015.10:g.89645394C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg661Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89645392C>T	NCI-TCGA
KIF7	Q2M1P5	p.Lys662Glu	rs1383761644	missense variant	-	NC_000015.10:g.89645390T>C	TOPMed
KIF7	Q2M1P5	p.Lys662Asn	rs1031213392	missense variant	-	NC_000015.10:g.89645388C>A	TOPMed
KIF7	Q2M1P5	p.Gly663Ser	rs1412180728	missense variant	-	NC_000015.10:g.89645387C>T	TOPMed
KIF7	Q2M1P5	p.Gly663Asp	rs775649265	missense variant	-	NC_000015.10:g.89645386C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu666Ile	rs1311685318	missense variant	-	NC_000015.10:g.89645378G>T	gnomAD
KIF7	Q2M1P5	p.Cys667Tyr	rs1354425756	missense variant	-	NC_000015.10:g.89645374C>T	TOPMed
KIF7	Q2M1P5	p.Glu669Asp	rs1376314543	missense variant	-	NC_000015.10:g.89645367C>G	gnomAD
KIF7	Q2M1P5	p.Glu670Asp	rs781476519	missense variant	-	NC_000015.10:g.89645364C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu671Val	rs370604741	missense variant	-	NC_000015.10:g.89645363A>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp672His	rs575882014	missense variant	-	NC_000015.10:g.89645360C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala673Thr	rs778447926	missense variant	-	NC_000015.10:g.89645357C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro676Ser	rs1401027354	missense variant	-	NC_000015.10:g.89645348G>A	gnomAD
KIF7	Q2M1P5	p.Arg679Thr	rs757944322	missense variant	-	NC_000015.10:g.89645338C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala680Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89645336C>A	NCI-TCGA
KIF7	Q2M1P5	p.Arg687Ter	rs138736028	stop gained	-	NC_000015.10:g.89645145G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg687Gln	rs200123657	missense variant	-	NC_000015.10:g.89645144C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg687Leu	rs200123657	missense variant	-	NC_000015.10:g.89645144C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg687Gly	rs138736028	missense variant	-	NC_000015.10:g.89645145G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val688Ala	rs1466606411	missense variant	-	NC_000015.10:g.89645141A>G	gnomAD
KIF7	Q2M1P5	p.Ala690Val	rs776675588	missense variant	-	NC_000015.10:g.89645135G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg691Cys	rs536188566	missense variant	-	NC_000015.10:g.89645133G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg691His	rs377712806	missense variant	-	NC_000015.10:g.89645132C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln692Glu	rs565633539	missense variant	-	NC_000015.10:g.89645130G>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln692Lys	rs565633539	missense variant	-	NC_000015.10:g.89645130G>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln692Glu	RCV000353617	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645130G>C	ClinVar
KIF7	Q2M1P5	p.Val693Phe	rs550326630	missense variant	-	NC_000015.10:g.89645127C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val693Ile	rs550326630	missense variant	-	NC_000015.10:g.89645127C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val693Phe	RCV000333886	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645127C>A	ClinVar
KIF7	Q2M1P5	p.Pro695Ala	rs779543411	missense variant	-	NC_000015.10:g.89645121G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro695Thr	rs779543411	missense variant	-	NC_000015.10:g.89645121G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro695Leu	rs571373108	missense variant	-	NC_000015.10:g.89645120G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro695LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.89645120G>-	NCI-TCGA
KIF7	Q2M1P5	p.Pro695Ser	rs779543411	missense variant	-	NC_000015.10:g.89645121G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala698Thr	rs969714062	missense variant	-	NC_000015.10:g.89645112C>T	TOPMed
KIF7	Q2M1P5	p.Ser699Leu	rs1217901267	missense variant	-	NC_000015.10:g.89645108G>A	gnomAD
KIF7	Q2M1P5	p.Glu700Asp	rs750206767	missense variant	-	NC_000015.10:g.89645104C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg702Gln	RCV000323940	missense variant	-	NC_000015.10:g.89645099C>T	ClinVar
KIF7	Q2M1P5	p.Arg702Gln	rs149078926	missense variant	-	NC_000015.10:g.89645099C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg702Gln	RCV000764004	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645099C>T	ClinVar
KIF7	Q2M1P5	p.Arg702Trp	rs781032745	missense variant	-	NC_000015.10:g.89645100G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu703Val	rs1298263995	missense variant	-	NC_000015.10:g.89645097G>C	gnomAD
KIF7	Q2M1P5	p.Ala704Thr	rs751403084	missense variant	-	NC_000015.10:g.89645094C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln705Arg	rs764121885	missense variant	-	NC_000015.10:g.89645090T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln705Pro	rs764121885	missense variant	-	NC_000015.10:g.89645090T>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln705Ter	rs1403125207	stop gained	-	NC_000015.10:g.89645091G>A	gnomAD
KIF7	Q2M1P5	p.Ala706Ser	rs373361316	missense variant	-	NC_000015.10:g.89645088C>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln708His	rs766692566	missense variant	-	NC_000015.10:g.89645080C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ile710Met	rs1422293026	missense variant	-	NC_000015.10:g.89645074G>C	gnomAD
KIF7	Q2M1P5	p.Arg711Gln	rs368873919	missense variant	-	NC_000015.10:g.89645072C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg711Trp	rs1255667027	missense variant	-	NC_000015.10:g.89645073G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg711Pro	rs368873919	missense variant	-	NC_000015.10:g.89645072C>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg711Trp	RCV000638553	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645073G>A	ClinVar
KIF7	Q2M1P5	p.Ala714Val	rs1197995463	missense variant	-	NC_000015.10:g.89645063G>A	gnomAD
KIF7	Q2M1P5	p.Ala714Thr	rs1236405663	missense variant	-	NC_000015.10:g.89645064C>T	gnomAD
KIF7	Q2M1P5	p.Ile715Val	rs774683334	missense variant	-	NC_000015.10:g.89645061T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ile715Met	rs769247904	missense variant	-	NC_000015.10:g.89645059G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ile717Phe	rs775039962	missense variant	-	NC_000015.10:g.89645055T>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg718Cys	rs372882880	missense variant	-	NC_000015.10:g.89645052G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg718Leu	rs138021610	missense variant	-	NC_000015.10:g.89645051C>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg718Pro	rs138021610	missense variant	-	NC_000015.10:g.89645051C>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg718His	rs138021610	missense variant	-	NC_000015.10:g.89645051C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Met719Thr	rs777546530	missense variant	-	NC_000015.10:g.89645048A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Met719Val	rs746859616	missense variant	-	NC_000015.10:g.89645049T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu721Ter	rs1446784669	stop gained	-	NC_000015.10:g.89645043C>A	gnomAD
KIF7	Q2M1P5	p.Glu722Ter	RCV000610998	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645040C>A	ClinVar
KIF7	Q2M1P5	p.Glu722Ter	rs1555424505	stop gained	-	NC_000015.10:g.89645040C>A	-
KIF7	Q2M1P5	p.Glu722Gly	rs758416079	missense variant	-	NC_000015.10:g.89645039T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly725Ser	rs150227461	missense variant	-	NC_000015.10:g.89645031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu726Gln	rs543188623	missense variant	-	NC_000015.10:g.89645028C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu726Lys	rs543188623	missense variant	-	NC_000015.10:g.89645028C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val728Ile	rs1441761364	missense variant	-	NC_000015.10:g.89645022C>T	gnomAD
KIF7	Q2M1P5	p.Arg729Cys	rs763584371	missense variant	-	NC_000015.10:g.89645019G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg729His	rs142420701	missense variant	-	NC_000015.10:g.89645018C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr730Ser	rs1207873989	missense variant	-	NC_000015.10:g.89645016T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr730Pro	rs1207873989	missense variant	-	NC_000015.10:g.89645016T>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly731Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89645013C>T	NCI-TCGA
KIF7	Q2M1P5	p.Lys732Asn	rs747991488	missense variant	-	NC_000015.10:g.89642401C>G	ExAC,TOPMed
KIF7	Q2M1P5	p.Gln735Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89642393T>C	NCI-TCGA
KIF7	Q2M1P5	p.Arg739His	rs943930875	missense variant	-	NC_000015.10:g.89642381C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg739Cys	rs768766154	missense variant	-	NC_000015.10:g.89642382G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln740Arg	RCV000340146	missense variant	-	NC_000015.10:g.89642378T>C	ClinVar
KIF7	Q2M1P5	p.Gln740Arg	rs147679100	missense variant	-	NC_000015.10:g.89642378T>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln740Glu	rs201789358	missense variant	-	NC_000015.10:g.89642379G>C	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Gln740Arg	RCV000801626	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642378T>C	ClinVar
KIF7	Q2M1P5	p.His741Gln	rs751746707	missense variant	-	NC_000015.10:g.89642374G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser742Asn	rs1440715352	missense variant	-	NC_000015.10:g.89642372C>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Ser742Asn	rs1440715352	missense variant	-	NC_000015.10:g.89642372C>T	TOPMed
KIF7	Q2M1P5	p.Gln743Lys	RCV000490132	missense variant	-	NC_000015.10:g.89642370G>T	ClinVar
KIF7	Q2M1P5	p.Gln743Lys	rs145324453	missense variant	-	NC_000015.10:g.89642370G>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln743His	rs1379825883	missense variant	-	NC_000015.10:g.89642368C>G	TOPMed
KIF7	Q2M1P5	p.Arg744Leu	rs758730416	missense variant	-	NC_000015.10:g.89642366C>A	NCI-TCGA
KIF7	Q2M1P5	p.Arg744Cys	rs1269915713	missense variant	-	NC_000015.10:g.89642367G>A	gnomAD
KIF7	Q2M1P5	p.Arg744His	rs758730416	missense variant	-	NC_000015.10:g.89642366C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg744Leu	rs758730416	missense variant	-	NC_000015.10:g.89642366C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ile745Phe	rs919662081	missense variant	-	NC_000015.10:g.89642364T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg746Trp	RCV000724188	missense variant	-	NC_000015.10:g.89642361G>A	ClinVar
KIF7	Q2M1P5	p.Arg746Gln	RCV000725501	missense variant	-	NC_000015.10:g.89642360C>T	ClinVar
KIF7	Q2M1P5	p.Arg746Trp	rs141867330	missense variant	-	NC_000015.10:g.89642361G>A	NCI-TCGA
KIF7	Q2M1P5	p.Arg746Trp	rs141867330	missense variant	-	NC_000015.10:g.89642361G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg746Gln	rs151317163	missense variant	-	NC_000015.10:g.89642360C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg746Pro	rs151317163	missense variant	-	NC_000015.10:g.89642360C>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg746Gly	rs141867330	missense variant	-	NC_000015.10:g.89642361G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu747Gln	rs760121687	missense variant	-	NC_000015.10:g.89642358C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu749Gln	rs1163621253	missense variant	-	NC_000015.10:g.89642352C>G	gnomAD
KIF7	Q2M1P5	p.Gln754Arg	rs761681469	missense variant	-	NC_000015.10:g.89642336T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Val755Met	rs1186278547	missense variant	-	NC_000015.10:g.89642334C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val755Leu	rs1186278547	missense variant	-	NC_000015.10:g.89642334C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val755Ala	rs774348571	missense variant	-	NC_000015.10:g.89642333A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg756Pro	rs749173316	missense variant	-	NC_000015.10:g.89642330C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg756Gln	rs749173316	missense variant	-	NC_000015.10:g.89642330C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg756Trp	rs570853380	missense variant	-	NC_000015.10:g.89642331G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala757Val	rs1272826943	missense variant	-	NC_000015.10:g.89642327G>A	gnomAD
KIF7	Q2M1P5	p.Glu758Gln	rs527766106	missense variant	-	NC_000015.10:g.89642325C>G	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Glu758Lys	rs527766106	missense variant	-	NC_000015.10:g.89642325C>T	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Leu759Pro	VAR_066453	Missense	-	-	UniProt
KIF7	Q2M1P5	p.Ser760Arg	rs778032299	missense variant	-	NC_000015.10:g.89642317A>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu761Asp	rs758677022	missense variant	-	NC_000015.10:g.89642314T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly762Arg	rs753052634	missense variant	-	NC_000015.10:g.89642313C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly762Arg	RCV000489800	missense variant	-	NC_000015.10:g.89642313C>G	ClinVar
KIF7	Q2M1P5	p.Gln763Ter	rs1324022945	stop gained	-	NC_000015.10:g.89642310G>A	gnomAD
KIF7	Q2M1P5	p.Arg764Ser	rs1392281954	missense variant	-	NC_000015.10:g.89642305C>G	TOPMed
KIF7	Q2M1P5	p.Arg764Lys	rs1020488870	missense variant	-	NC_000015.10:g.89642306C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln765His	rs556273497	missense variant	-	NC_000015.10:g.89642302C>G	gnomAD
KIF7	Q2M1P5	p.Gln765Arg	rs755346269	missense variant	-	NC_000015.10:g.89642303T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu766Gln	rs371196179	missense variant	-	NC_000015.10:g.89642300A>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu766Met	rs1439862748	missense variant	-	NC_000015.10:g.89642301G>T	gnomAD
KIF7	Q2M1P5	p.Arg767Trp	rs201091656	missense variant	-	NC_000015.10:g.89642298G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg767Gln	rs760206389	missense variant	-	NC_000015.10:g.89642297C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu768Asp	rs749953290	missense variant	-	NC_000015.10:g.89642293C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu769Phe	rs767268207	missense variant	-	NC_000015.10:g.89642292G>A	ExAC
KIF7	Q2M1P5	p.Leu769Arg	rs1222820551	missense variant	-	NC_000015.10:g.89642291A>C	gnomAD
KIF7	Q2M1P5	p.Glu770Lys	rs148779858	missense variant	-	NC_000015.10:g.89642289C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly771Ser	rs774153706	missense variant	-	NC_000015.10:g.89642286C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Lys772Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89642281C>A	NCI-TCGA
KIF7	Q2M1P5	p.Leu774Pro	RCV000365138	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642276A>G	ClinVar
KIF7	Q2M1P5	p.Leu774Pro	rs762864604	missense variant	-	NC_000015.10:g.89642276A>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu774His	rs762864604	missense variant	-	NC_000015.10:g.89642276A>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp776Tyr	rs1249809748	missense variant	-	NC_000015.10:g.89642271C>A	TOPMed
KIF7	Q2M1P5	p.Asp776His	rs1249809748	missense variant	-	NC_000015.10:g.89642271C>G	TOPMed
KIF7	Q2M1P5	p.Asp776Gly	rs1435993407	missense variant	-	NC_000015.10:g.89642270T>C	TOPMed
KIF7	Q2M1P5	p.Asp776Glu	rs769667870	missense variant	-	NC_000015.10:g.89642269A>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly778Ser	rs765158952	missense variant	-	NC_000015.10:g.89642265C>T	gnomAD
KIF7	Q2M1P5	p.Gly778Arg	rs765158952	missense variant	-	NC_000015.10:g.89642265C>G	gnomAD
KIF7	Q2M1P5	p.Glu779Ter	rs116823950	stop gained	-	NC_000015.10:g.89642262C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu779Gln	RCV000551731	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642262C>G	ClinVar
KIF7	Q2M1P5	p.Glu779Asp	rs202089770	missense variant	-	NC_000015.10:g.89642260C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu779Gln	rs116823950	missense variant	-	NC_000015.10:g.89642262C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu779Lys	rs116823950	missense variant	-	NC_000015.10:g.89642262C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg780Gln	rs370339841	missense variant	-	NC_000015.10:g.89642258C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg780Leu	rs370339841	missense variant	-	NC_000015.10:g.89642258C>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg780Trp	rs377300719	missense variant	-	NC_000015.10:g.89642259G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser781Pro	RCV000342702	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642256A>G	ClinVar
KIF7	Q2M1P5	p.Ser781Phe	rs1156356003	missense variant	-	NC_000015.10:g.89642255G>A	gnomAD
KIF7	Q2M1P5	p.Ser781Thr	rs886051530	missense variant	-	NC_000015.10:g.89642256A>T	TOPMed
KIF7	Q2M1P5	p.Ser781Pro	rs886051530	missense variant	-	NC_000015.10:g.89642256A>G	TOPMed
KIF7	Q2M1P5	p.Arg782Trp	rs780592854	missense variant	-	NC_000015.10:g.89642253G>A	NCI-TCGA,NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Arg782Trp	rs780592854	missense variant	-	NC_000015.10:g.89642253G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg782Gly	rs780592854	missense variant	-	NC_000015.10:g.89642253G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg782Gln	rs749948143	missense variant	-	NC_000015.10:g.89642252C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg782Pro	rs749948143	missense variant	-	NC_000015.10:g.89642252C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg782Gln	rs749948143	missense variant	-	NC_000015.10:g.89642252C>T	NCI-TCGA,NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Leu783Ile	rs1479254747	missense variant	-	NC_000015.10:g.89642250G>T	gnomAD
KIF7	Q2M1P5	p.Gln784Ter	rs1308885017	stop gained	-	NC_000015.10:g.89642247G>A	TOPMed
KIF7	Q2M1P5	p.Glu785Val	RCV000522725	missense variant	-	NC_000015.10:g.89642243T>A	ClinVar
KIF7	Q2M1P5	p.Glu785Val	RCV000764003	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642243T>A	ClinVar
KIF7	Q2M1P5	p.Glu785Asp	rs529209853	missense variant	-	NC_000015.10:g.89642242C>A	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Glu785Val	rs759424882	missense variant	-	NC_000015.10:g.89642243T>A	gnomAD
KIF7	Q2M1P5	p.Glu785Asp	rs529209853	missense variant	-	NC_000015.10:g.89642242C>G	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Arg787His	rs775204546	missense variant	-	NC_000015.10:g.89642237C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg787Cys	rs762787424	missense variant	-	NC_000015.10:g.89642238G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg788Ser	RCV000285504	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642233C>G	ClinVar
KIF7	Q2M1P5	p.Arg788Ser	rs117123311	missense variant	-	NC_000015.10:g.89642233C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val790Phe	rs929788182	missense variant	-	NC_000015.10:g.89642229C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val790Gly	rs759322369	missense variant	-	NC_000015.10:g.89642228A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala791Gly	rs1429326502	missense variant	-	NC_000015.10:g.89642225G>C	TOPMed
KIF7	Q2M1P5	p.Ala791Thr	rs748254377	missense variant	-	NC_000015.10:g.89642226C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala792Thr	rs139150855	missense variant	-	NC_000015.10:g.89642223C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala792Glu	rs375985448	missense variant	-	NC_000015.10:g.89642222G>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala792Val	rs375985448	missense variant	-	NC_000015.10:g.89642222G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala792Val	rs375985448	missense variant	-	NC_000015.10:g.89642222G>A	NCI-TCGA
KIF7	Q2M1P5	p.Ala793Val	rs1177602980	missense variant	-	NC_000015.10:g.89642219G>A	gnomAD
KIF7	Q2M1P5	p.Gln794His	rs780353194	missense variant	-	NC_000015.10:g.89642215C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser795Ile	rs756506659	missense variant	-	NC_000015.10:g.89642213C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln796Arg	rs746304930	missense variant	-	NC_000015.10:g.89642210T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln796His	rs781770350	missense variant	-	NC_000015.10:g.89642209C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln796Leu	rs746304930	missense variant	-	NC_000015.10:g.89642210T>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val797Leu	rs1265734614	missense variant	-	NC_000015.10:g.89642208C>G	gnomAD
KIF7	Q2M1P5	p.Gln798Arg	rs201612675	missense variant	-	NC_000015.10:g.89642204T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val799Leu	rs775535847	missense variant	-	NC_000015.10:g.89633883C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val799Leu	rs775535847	missense variant	-	NC_000015.10:g.89633883C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu800Pro	rs770095161	missense variant	-	NC_000015.10:g.89633879A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Lys803Asn	rs1248291268	missense variant	-	NC_000015.10:g.89633869C>A	gnomAD
KIF7	Q2M1P5	p.Lys804Gln	rs747460072	missense variant	-	NC_000015.10:g.89633868T>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys804Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89633867T>G	NCI-TCGA
KIF7	Q2M1P5	p.Ala806Gly	rs146186236	missense variant	-	NC_000015.10:g.89633861G>C	ESP,ExAC,gnomAD
KIF7	Q2M1P5	p.Ala806Val	rs146186236	missense variant	-	NC_000015.10:g.89633861G>A	ESP,ExAC,gnomAD
KIF7	Q2M1P5	p.Thr807Met	RCV000280850	missense variant	-	NC_000015.10:g.89633858G>A	ClinVar
KIF7	Q2M1P5	p.Thr807Lys	RCV000527732	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633858G>T	ClinVar
KIF7	Q2M1P5	p.Thr807Met	RCV000764002	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633858G>A	ClinVar
KIF7	Q2M1P5	p.Thr807Met	rs757175418	missense variant	-	NC_000015.10:g.89633858G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr807Ala	rs771441248	missense variant	-	NC_000015.10:g.89633859T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Thr807Lys	rs757175418	missense variant	-	NC_000015.10:g.89633858G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu808Lys	COSM3817023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89633856C>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Arg809Leu	rs758378987	missense variant	-	NC_000015.10:g.89633852C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg809Pro	rs758378987	missense variant	-	NC_000015.10:g.89633852C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg809Trp	rs367734857	missense variant	-	NC_000015.10:g.89633853G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg809Trp	RCV000625891	missense variant	Hydrolethalus syndrome 2 (HLS2)	NC_000015.10:g.89633853G>A	ClinVar
KIF7	Q2M1P5	p.Arg809Gln	rs758378987	missense variant	-	NC_000015.10:g.89633852C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg809Gln	RCV000731081	missense variant	-	NC_000015.10:g.89633852C>T	ClinVar
KIF7	Q2M1P5	p.Arg809Gln	RCV000390787	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633852C>T	ClinVar
KIF7	Q2M1P5	p.Arg809Trp	RCV000764001	missense variant	Hydrolethalus syndrome 2 (HLS2)	NC_000015.10:g.89633853G>A	ClinVar
KIF7	Q2M1P5	p.Val811Leu	rs1391914901	missense variant	-	NC_000015.10:g.89633847C>A	gnomAD
KIF7	Q2M1P5	p.Val811Gly	rs752872113	missense variant	-	NC_000015.10:g.89633846A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Val811Ala	rs752872113	missense variant	-	NC_000015.10:g.89633846A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser812Ter	rs759765964	stop gained	-	NC_000015.10:g.89633843G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser812Leu	rs759765964	missense variant	-	NC_000015.10:g.89633843G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser812Ala	rs765371328	missense variant	-	NC_000015.10:g.89633844A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser812Pro	COSM966361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89633844A>G	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Leu813Val	rs575297087	missense variant	-	NC_000015.10:g.89633841G>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu813Met	rs575297087	missense variant	-	NC_000015.10:g.89633841G>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser814Ter	rs139642540	stop gained	-	NC_000015.10:g.89633837G>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser814Leu	rs139642540	missense variant	-	NC_000015.10:g.89633837G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser814Ala	rs1421629514	missense variant	-	NC_000015.10:g.89633838A>C	gnomAD
KIF7	Q2M1P5	p.Gln816His	rs1269284205	missense variant	-	NC_000015.10:g.89633830C>G	gnomAD
KIF7	Q2M1P5	p.Ser817Asn	rs772680332	missense variant	-	NC_000015.10:g.89633828C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser817Arg	rs200055380	missense variant	-	NC_000015.10:g.89633827A>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys819Thr	rs374111371	missense variant	-	NC_000015.10:g.89633822T>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys819Thr	RCV000594372	missense variant	-	NC_000015.10:g.89633822T>G	ClinVar
KIF7	Q2M1P5	p.Arg820Gln	rs374638470	missense variant	-	NC_000015.10:g.89633819C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg820Gly	rs150595682	missense variant	-	NC_000015.10:g.89633820G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg820Ter	rs150595682	stop gained	-	NC_000015.10:g.89633820G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg820Pro	rs374638470	missense variant	-	NC_000015.10:g.89633819C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln822His	rs780970705	missense variant	-	NC_000015.10:g.89633812C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln822Glu	rs745705713	missense variant	-	NC_000015.10:g.89633814G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu823Gly	rs757284705	missense variant	-	NC_000015.10:g.89633810T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu823Asp	rs1403464053	missense variant	-	NC_000015.10:g.89633809C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu824Val	rs751454262	missense variant	-	NC_000015.10:g.89633808G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu825Ter	rs558861570	stop gained	-	NC_000015.10:g.89633805C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu825Gln	rs558861570	missense variant	-	NC_000015.10:g.89633805C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu825Lys	rs558861570	missense variant	-	NC_000015.10:g.89633805C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg826Trp	rs139711238	missense variant	-	NC_000015.10:g.89633802G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg826Gln	rs148044329	missense variant	-	NC_000015.10:g.89633801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg826Leu	rs148044329	missense variant	-	NC_000015.10:g.89633801C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn827Ser	rs987512190	missense variant	-	NC_000015.10:g.89633798T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val828Met	RCV000764000	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633796C>T	ClinVar
KIF7	Q2M1P5	p.Val828Met	rs143915145	missense variant	-	NC_000015.10:g.89633796C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val828Met	RCV000431045	missense variant	-	NC_000015.10:g.89633796C>T	ClinVar
KIF7	Q2M1P5	p.Gln829Pro	rs768110060	missense variant	-	NC_000015.10:g.89633792T>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln829Glu	rs1200179301	missense variant	-	NC_000015.10:g.89633793G>C	TOPMed
KIF7	Q2M1P5	p.Gln829His	rs1480004697	missense variant	-	NC_000015.10:g.89633791C>A	gnomAD
KIF7	Q2M1P5	p.Leu830Ile	rs748828629	missense variant	-	NC_000015.10:g.89633790G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu830Phe	rs748828629	missense variant	-	NC_000015.10:g.89633790G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Met831Val	rs775093018	missense variant	-	NC_000015.10:g.89633787T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Met831Thr	rs1444851373	missense variant	-	NC_000015.10:g.89633786A>G	gnomAD
KIF7	Q2M1P5	p.Met831Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89633786A>C	NCI-TCGA
KIF7	Q2M1P5	p.Arg832Trp	rs745638889	missense variant	-	NC_000015.10:g.89633784G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg832Gln	rs371841682	missense variant	-	NC_000015.10:g.89633783C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln833Arg	rs777880634	missense variant	-	NC_000015.10:g.89633780T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln833Glu	rs746915003	missense variant	-	NC_000015.10:g.89633781G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln834Ter	rs1323293002	stop gained	-	NC_000015.10:g.89633778G>A	gnomAD
KIF7	Q2M1P5	p.Gln834Arg	RCV000535641	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633777T>C	ClinVar
KIF7	Q2M1P5	p.Gln834Arg	rs138354681	missense variant	-	NC_000015.10:g.89633777T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln835Ter	RCV000760754	nonsense	-	NC_000015.10:g.89633775G>A	ClinVar
KIF7	Q2M1P5	p.Gln837Ter	RCV000492941	nonsense	-	NC_000015.10:g.89633769G>A	ClinVar
KIF7	Q2M1P5	p.Gln837Glu	rs1131691958	missense variant	-	NC_000015.10:g.89633769G>C	gnomAD
KIF7	Q2M1P5	p.Gln837Ter	rs1131691958	stop gained	-	NC_000015.10:g.89633769G>A	gnomAD
KIF7	Q2M1P5	p.Gln839Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89633762T>C	NCI-TCGA
KIF7	Q2M1P5	p.Arg840Trp	rs754017849	missense variant	-	NC_000015.10:g.89633760T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg841Gln	rs750616880	missense variant	-	NC_000015.10:g.89633756C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg841Trp	rs147040400	missense variant	-	NC_000015.10:g.89633757G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu842Val	rs767869939	missense variant	-	NC_000015.10:g.89633754G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg843His	rs370901791	missense variant	-	NC_000015.10:g.89633750C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg843Cys	rs374366786	missense variant	-	NC_000015.10:g.89633751G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu844Lys	rs760348444	missense variant	-	NC_000015.10:g.89633748C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu844Gln	rs760348444	missense variant	-	NC_000015.10:g.89633748C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu845Lys	rs759168186	missense variant	-	NC_000015.10:g.89633745C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Thr846Ala	rs1240669714	missense variant	-	NC_000015.10:g.89633742T>C	gnomAD
KIF7	Q2M1P5	p.Thr846Lys	rs151034440	missense variant	-	NC_000015.10:g.89633741G>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr846Met	rs151034440	missense variant	-	NC_000015.10:g.89633741G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg850Leu	rs141514601	missense variant	-	NC_000015.10:g.89633729C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg850Gln	rs141514601	missense variant	-	NC_000015.10:g.89633729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg850Trp	rs200210231	missense variant	-	NC_000015.10:g.89633730G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg851Cys	rs201341169	missense variant	-	NC_000015.10:g.89633727G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg851His	rs750613716	missense variant	-	NC_000015.10:g.89633726C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu853Lys	rs1333170956	missense variant	-	NC_000015.10:g.89633721C>T	gnomAD
KIF7	Q2M1P5	p.Ala854Ser	rs547299679	missense variant	-	NC_000015.10:g.89633718C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu855Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.89633715C>A	NCI-TCGA
KIF7	Q2M1P5	p.Met856Ile	rs751970641	missense variant	-	NC_000015.10:g.89633710C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser857Arg	rs764572782	missense variant	-	NC_000015.10:g.89633707G>C	ExAC,TOPMed
KIF7	Q2M1P5	p.Arg859Trp	rs145701524	missense variant	-	NC_000015.10:g.89633703G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg859Gln	rs753215849	missense variant	-	NC_000015.10:g.89633702C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg859Gly	rs145701524	missense variant	-	NC_000015.10:g.89633703G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.His861Arg	rs1043221006	missense variant	-	NC_000015.10:g.89633696T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg862His	rs202057334	missense variant	-	NC_000015.10:g.89633693C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg862Cys	rs758999185	missense variant	-	NC_000015.10:g.89633694G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg862His	RCV000343628	missense variant	-	NC_000015.10:g.89633693C>T	ClinVar
KIF7	Q2M1P5	p.Val863Phe	rs767054471	missense variant	-	NC_000015.10:g.89633691C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val863Ile	rs767054471	missense variant	-	NC_000015.10:g.89633691C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys864Glu	rs772000394	missense variant	-	NC_000015.10:g.89633688T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys864Arg	rs1313079618	missense variant	-	NC_000015.10:g.89633687T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu865Lys	rs1213704961	missense variant	-	NC_000015.10:g.89633266C>T	gnomAD
KIF7	Q2M1P5	p.Glu867Ter	RCV000779177	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633260C>A	ClinVar
KIF7	Q2M1P5	p.Glu867Lys	rs1328669185	missense variant	-	NC_000015.10:g.89633260C>T	TOPMed
KIF7	Q2M1P5	p.His870Gln	rs771049459	missense variant	-	NC_000015.10:g.89633249A>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.His870Tyr	rs866844676	missense variant	-	NC_000015.10:g.89633251G>A	gnomAD
KIF7	Q2M1P5	p.His870Asn	rs866844676	missense variant	-	NC_000015.10:g.89633251G>T	gnomAD
KIF7	Q2M1P5	p.His870Arg	rs530861601	missense variant	-	NC_000015.10:g.89633250T>C	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Glu871Ter	rs144359873	stop gained	-	NC_000015.10:g.89633248C>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu871Lys	rs144359873	missense variant	-	NC_000015.10:g.89633248C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys875Asn	COSM4696228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89633234C>A	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Ile876Met	rs376919553	missense variant	-	NC_000015.10:g.89633231G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys878Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89633225C>A	NCI-TCGA
KIF7	Q2M1P5	p.Ile879Met	rs1471206637	missense variant	-	NC_000015.10:g.89633222A>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys880Asn	rs1341111375	missense variant	-	NC_000015.10:g.89633219C>A	TOPMed
KIF7	Q2M1P5	p.Thr881Met	rs372660203	missense variant	-	NC_000015.10:g.89633217G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr881Arg	rs372660203	missense variant	-	NC_000015.10:g.89633217G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu882Ter	rs1429390462	stop gained	-	NC_000015.10:g.89633215C>A	gnomAD
KIF7	Q2M1P5	p.Glu883Asp	rs765751072	missense variant	-	NC_000015.10:g.89633210C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ile884Phe	rs755711268	missense variant	-	NC_000015.10:g.89633209T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala885Val	RCV000638551	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633205G>A	ClinVar
KIF7	Q2M1P5	p.Ala885Thr	rs139217034	missense variant	-	NC_000015.10:g.89633206C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala885Glu	rs774073055	missense variant	-	NC_000015.10:g.89633205G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala885Val	rs774073055	missense variant	-	NC_000015.10:g.89633205G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala886Ser	rs1199012519	missense variant	-	NC_000015.10:g.89633203C>A	gnomAD
KIF7	Q2M1P5	p.Ala886Val	rs1308930729	missense variant	-	NC_000015.10:g.89633202G>A	gnomAD
KIF7	Q2M1P5	p.Arg889Lys	rs770875091	missense variant	-	NC_000015.10:g.89633193C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg889Ser	rs1379272705	missense variant	-	NC_000015.10:g.89633192C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg891Thr	RCV000724190	missense variant	-	NC_000015.10:g.89633187C>G	ClinVar
KIF7	Q2M1P5	p.Arg891Thr	rs143250090	missense variant	-	NC_000015.10:g.89633187C>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg892Cys	rs146368430	missense variant	-	NC_000015.10:g.89633185G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg892His	rs143866575	missense variant	-	NC_000015.10:g.89633184C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser893Gly	rs1356594136	missense variant	-	NC_000015.10:g.89633182T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser893Arg	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89633180A>T	NCI-TCGA
KIF7	Q2M1P5	p.Gly894Asp	rs1168617390	missense variant	-	NC_000015.10:g.89633178C>T	gnomAD
KIF7	Q2M1P5	p.Ser895Thr	rs1386011317	missense variant	-	NC_000015.10:g.89633175C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn896Lys	COSM3505297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89633171G>C	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Gly897Ser	rs149548398	missense variant	-	NC_000015.10:g.89633170C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly897Arg	rs149548398	missense variant	-	NC_000015.10:g.89633170C>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly897Ala	rs749711306	missense variant	-	NC_000015.10:g.89633169C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly897Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89633169C>T	NCI-TCGA
KIF7	Q2M1P5	p.Ser898Pro	rs927320562	missense variant	-	NC_000015.10:g.89633167A>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val899Leu	rs139174072	missense variant	-	NC_000015.10:g.89633164C>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val900Ile	rs750006883	missense variant	-	NC_000015.10:g.89633161C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val900Leu	rs750006883	missense variant	-	NC_000015.10:g.89633161C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val900Ala	rs780978317	missense variant	-	NC_000015.10:g.89633160A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Val900Gly	rs780978317	missense variant	-	NC_000015.10:g.89633160A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser901Arg	rs777523681	missense variant	-	NC_000015.10:g.89633156G>C	gnomAD
KIF7	Q2M1P5	p.Ser901Arg	rs777523681	missense variant	-	NC_000015.10:g.89633156G>T	gnomAD
KIF7	Q2M1P5	p.Ser901Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89633157C>T	NCI-TCGA
KIF7	Q2M1P5	p.Glu903Ter	rs1381354317	stop gained	-	NC_000015.10:g.89633152C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu903Gln	rs1381354317	missense variant	-	NC_000015.10:g.89633152C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln904Ter	rs1392418047	stop gained	-	NC_000015.10:g.89633149G>A	gnomAD
KIF7	Q2M1P5	p.Gln904Leu	rs757037566	missense variant	-	NC_000015.10:g.89633148T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ile908Thr	rs753784742	missense variant	-	NC_000015.10:g.89632992A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu909Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89632990C>G	NCI-TCGA
KIF7	Q2M1P5	p.Glu910Lys	rs1406527339	missense variant	-	NC_000015.10:g.89632987C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln911Pro	rs761986869	missense variant	-	NC_000015.10:g.89632983T>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Lys912Arg	rs764430327	missense variant	-	NC_000015.10:g.89632980T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Lys913Arg	rs776064132	missense variant	-	NC_000015.10:g.89632977T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys913Ter	rs763217993	stop gained	-	NC_000015.10:g.89632978T>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys913Trp	RCV000722437	missense variant	-	NC_000015.10:g.89632977_89632978delinsCA	ClinVar
KIF7	Q2M1P5	p.Asp916Glu	rs746321431	missense variant	-	NC_000015.10:g.89632967G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp916Gly	rs1229750755	missense variant	-	NC_000015.10:g.89632968T>C	gnomAD
KIF7	Q2M1P5	p.Gln917His	rs777302046	missense variant	-	NC_000015.10:g.89632964C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu918Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89632961C>G	NCI-TCGA
KIF7	Q2M1P5	p.Met919Ile	rs1197089621	missense variant	-	NC_000015.10:g.89632958C>T	TOPMed
KIF7	Q2M1P5	p.Met919Thr	rs1265443801	missense variant	-	NC_000015.10:g.89632959A>G	gnomAD
KIF7	Q2M1P5	p.Glu920Lys	rs746577567	missense variant	-	NC_000015.10:g.89632957C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu920Ter	rs746577567	stop gained	-	NC_000015.10:g.89632957C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu920Gln	rs746577567	missense variant	-	NC_000015.10:g.89632957C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln924Glu	rs372338933	missense variant	-	NC_000015.10:g.89632945G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln924Ter	rs372338933	stop gained	-	NC_000015.10:g.89632945G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln925Lys	rs747755753	missense variant	-	NC_000015.10:g.89632942G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg926Trp	rs147407072	missense variant	-	NC_000015.10:g.89632939G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg926Gln	rs753737326	missense variant	-	NC_000015.10:g.89632938C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg927Gln	rs757264957	missense variant	-	NC_000015.10:g.89632935C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg927Trp	rs766347192	missense variant	-	NC_000015.10:g.89632936G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg927Gly	rs766347192	missense variant	-	NC_000015.10:g.89632936G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala928Val	rs764218371	missense variant	-	NC_000015.10:g.89632932G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala928Gly	rs764218371	missense variant	-	NC_000015.10:g.89632932G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly933Ala	rs1372059117	missense variant	-	NC_000015.10:g.89632917C>G	gnomAD
KIF7	Q2M1P5	p.Gly933Glu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89632917C>T	NCI-TCGA
KIF7	Q2M1P5	p.Glu934Asp	rs372753898	missense variant	-	NC_000015.10:g.89632913C>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu934Lys	rs556977418	missense variant	-	NC_000015.10:g.89632915C>T	1000Genomes
KIF7	Q2M1P5	p.Leu936Phe	rs1445809202	missense variant	-	NC_000015.10:g.89632909G>A	gnomAD
KIF7	Q2M1P5	p.His937Gln	rs887506789	missense variant	-	NC_000015.10:g.89632904G>T	gnomAD
KIF7	Q2M1P5	p.His937Arg	rs1317499145	missense variant	-	NC_000015.10:g.89632905T>C	TOPMed
KIF7	Q2M1P5	p.Lys938Ter	rs760016965	stop gained	-	NC_000015.10:g.89632903T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Lys938Asn	rs1224400412	missense variant	-	NC_000015.10:g.89632901C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg939Gln	rs771525697	missense variant	-	NC_000015.10:g.89632899C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg939Trp	rs142786336	missense variant	-	NC_000015.10:g.89632900G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg939Trp	RCV000638554	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89632900G>A	ClinVar
KIF7	Q2M1P5	p.Ala941Val	rs1337678290	missense variant	-	NC_000015.10:g.89632893G>A	gnomAD
KIF7	Q2M1P5	p.Ile942Val	rs746496879	missense variant	-	NC_000015.10:g.89632891T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu943Gln	rs375079629	missense variant	-	NC_000015.10:g.89632887A>T	ESP,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu943ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.89632889_89632890insA	NCI-TCGA
KIF7	Q2M1P5	p.Ala944Val	rs556953796	missense variant	-	NC_000015.10:g.89632884G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys946Glu	rs372233228	missense variant	-	NC_000015.10:g.89632879T>C	ESP,ExAC,gnomAD
KIF7	Q2M1P5	p.Glu947Ala	rs369827484	missense variant	-	NC_000015.10:g.89632875T>G	ESP,ExAC,gnomAD
KIF7	Q2M1P5	p.Ala948Asp	rs138410620	missense variant	-	NC_000015.10:g.89632872G>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala948Thr	rs778564914	missense variant	-	NC_000015.10:g.89632873C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala948Ser	rs778564914	missense variant	-	NC_000015.10:g.89632873C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala948Val	rs138410620	missense variant	-	NC_000015.10:g.89632872G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu949Val	rs749134116	missense variant	-	NC_000015.10:g.89632870G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Met950Thr	rs756146900	missense variant	-	NC_000015.10:g.89632866A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln951Ter	rs1162231638	stop gained	-	NC_000015.10:g.89632864G>A	gnomAD
KIF7	Q2M1P5	p.Thr954Met	RCV000364818	missense variant	-	NC_000015.10:g.89632854G>A	ClinVar
KIF7	Q2M1P5	p.Thr954Met	rs141463861	missense variant	-	NC_000015.10:g.89632854G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr954Ser	rs1002040263	missense variant	-	NC_000015.10:g.89632855T>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly955Glu	rs1223442319	missense variant	-	NC_000015.10:g.89632851C>T	gnomAD
KIF7	Q2M1P5	p.Gly955Trp	rs758433714	missense variant	-	NC_000015.10:g.89632852C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu957Lys	rs1361697027	missense variant	-	NC_000015.10:g.89632846C>T	gnomAD
KIF7	Q2M1P5	p.Ser958Ile	RCV000316792	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89632842C>A	ClinVar
KIF7	Q2M1P5	p.Ser958Arg	rs759963623	missense variant	-	NC_000015.10:g.89632841G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser958Ile	rs3803530	missense variant	-	NC_000015.10:g.89632842C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser958Ile	RCV000082813	missense variant	-	NC_000015.10:g.89632842C>A	ClinVar
KIF7	Q2M1P5	p.Lys959Glu	rs754318099	missense variant	-	NC_000015.10:g.89632840T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Lys959Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89632839T>A	NCI-TCGA
KIF7	Q2M1P5	p.Arg960Cys	rs766652877	missense variant	-	NC_000015.10:g.89632837G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg960Leu	rs149221245	missense variant	-	NC_000015.10:g.89632836C>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg960Gly	rs766652877	missense variant	-	NC_000015.10:g.89632837G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg960Pro	rs149221245	missense variant	-	NC_000015.10:g.89632836C>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg960His	rs149221245	missense variant	-	NC_000015.10:g.89632836C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg962Thr	rs1406326426	missense variant	-	NC_000015.10:g.89632830C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg962Lys	rs1406326426	missense variant	-	NC_000015.10:g.89632830C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser963Ala	rs567836651	missense variant	-	NC_000015.10:g.89632828A>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser963Thr	rs567836651	missense variant	-	NC_000015.10:g.89632828A>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser963Thr	RCV000500907	missense variant	-	NC_000015.10:g.89632828A>T	ClinVar
KIF7	Q2M1P5	p.Ser964Arg	rs779835765	missense variant	-	NC_000015.10:g.89632823G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln965Arg	rs1409311719	missense variant	-	NC_000015.10:g.89632821T>C	gnomAD
KIF7	Q2M1P5	p.Ala966Val	RCV000296970	missense variant	-	NC_000015.10:g.89631709G>A	ClinVar
KIF7	Q2M1P5	p.Ala966Ter	RCV000023880	frameshift	Hydrolethalus syndrome 2 (HLS2)	NC_000015.10:g.89631709_89631710del	ClinVar
KIF7	Q2M1P5	p.Ala966Val	rs886042165	missense variant	-	NC_000015.10:g.89631709G>A	TOPMed
KIF7	Q2M1P5	p.Ala966Ter	RCV000023881	frameshift	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631709_89631710del	ClinVar
KIF7	Q2M1P5	p.Leu967Phe	rs780178459	missense variant	-	NC_000015.10:g.89631707G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu967Val	rs780178459	missense variant	-	NC_000015.10:g.89631707G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu969Asp	RCV000192450	missense variant	-	NC_000015.10:g.89631699C>G	ClinVar
KIF7	Q2M1P5	p.Glu969Asp	rs750812056	missense variant	-	NC_000015.10:g.89631699C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu969Lys	rs1243705479	missense variant	-	NC_000015.10:g.89631701C>T	gnomAD
KIF7	Q2M1P5	p.Glu969Asp	RCV000766286	missense variant	-	NC_000015.10:g.89631699C>G	ClinVar
KIF7	Q2M1P5	p.Ile971Val	rs911104750	missense variant	-	NC_000015.10:g.89631695T>C	gnomAD
KIF7	Q2M1P5	p.Val972Met	rs79839906	missense variant	-	NC_000015.10:g.89631692C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val972Leu	rs79839906	missense variant	-	NC_000015.10:g.89631692C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val972Leu	rs79839906	missense variant	-	NC_000015.10:g.89631692C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg973Ter	rs202229910	stop gained	-	NC_000015.10:g.89631689G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg973Gln	rs762483775	missense variant	-	NC_000015.10:g.89631688C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg973Gly	RCV000370098	missense variant	-	NC_000015.10:g.89631689G>C	ClinVar
KIF7	Q2M1P5	p.Arg973Pro	rs762483775	missense variant	-	NC_000015.10:g.89631688C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg973Gly	rs202229910	missense variant	-	NC_000015.10:g.89631689G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg973Ter	RCV000201660	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631689G>A	ClinVar
KIF7	Q2M1P5	p.Val974Met	rs1006839998	missense variant	-	NC_000015.10:g.89631686C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Val974Ala	rs775179475	missense variant	-	NC_000015.10:g.89631685A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser975Phe	rs764853570	missense variant	-	NC_000015.10:g.89631682G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg977Gln	RCV000291777	missense variant	-	NC_000015.10:g.89631676C>T	ClinVar
KIF7	Q2M1P5	p.Arg977Gln	rs769540024	missense variant	-	NC_000015.10:g.89631676C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg977Trp	rs759367222	missense variant	-	NC_000015.10:g.89631677G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu978Pro	rs1388249791	missense variant	-	NC_000015.10:g.89631673A>G	TOPMed
KIF7	Q2M1P5	p.Glu979Lys	rs558313041	missense variant	-	NC_000015.10:g.89631671C>T	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Glu982Ter	RCV000190601	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631662C>A	ClinVar
KIF7	Q2M1P5	p.Glu982Ter	rs797045093	stop gained	-	NC_000015.10:g.89631662C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys983Glu	rs1163417627	missense variant	-	NC_000015.10:g.89631659T>C	gnomAD
KIF7	Q2M1P5	p.Ser986Phe	rs746893972	missense variant	-	NC_000015.10:g.89631649G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu987Lys	RCV000591679	missense variant	-	NC_000015.10:g.89631647C>T	ClinVar
KIF7	Q2M1P5	p.Glu987Val	RCV000174963	missense variant	-	NC_000015.10:g.89631646T>A	ClinVar
KIF7	Q2M1P5	p.Glu987Val	rs794727157	missense variant	-	NC_000015.10:g.89631646T>A	-
KIF7	Q2M1P5	p.Glu987Lys	rs146626238	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89631647C>T	UniProt,dbSNP
KIF7	Q2M1P5	p.Glu987Lys	VAR_077694	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89631647C>T	UniProt
KIF7	Q2M1P5	p.Glu987Lys	rs146626238	missense variant	-	NC_000015.10:g.89631647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys988Arg	rs1489699836	missense variant	-	NC_000015.10:g.89631643T>C	TOPMed
KIF7	Q2M1P5	p.Gly990Trp	rs756359749	missense variant	-	NC_000015.10:g.89631638C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly990Arg	rs756359749	missense variant	-	NC_000015.10:g.89631638C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln991Lys	rs1467513774	missense variant	-	NC_000015.10:g.89631635G>T	TOPMed
KIF7	Q2M1P5	p.Leu992Met	rs867666556	missense variant	-	NC_000015.10:g.89631632G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg993Trp	rs572668573	missense variant	-	NC_000015.10:g.89631629G>A	1000Genomes,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg993Gln	rs746107537	missense variant	-	NC_000015.10:g.89631628C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln994Arg	RCV000513744	missense variant	-	NC_000015.10:g.89631625T>C	ClinVar
KIF7	Q2M1P5	p.Gln994Arg	RCV000174962	missense variant	-	NC_000015.10:g.89631625T>C	ClinVar
KIF7	Q2M1P5	p.Gln994Arg	rs138410949	missense variant	-	NC_000015.10:g.89631625T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala997Asp	rs146841447	missense variant	-	NC_000015.10:g.89631616G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala997Val	rs146841447	missense variant	-	NC_000015.10:g.89631616G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala997Thr	rs140680470	missense variant	-	NC_000015.10:g.89631617C>T	ESP,ExAC,gnomAD
KIF7	Q2M1P5	p.Gln998Ter	rs1224715502	stop gained	-	NC_000015.10:g.89631614G>A	gnomAD
KIF7	Q2M1P5	p.Ser999Ile	rs1375916466	missense variant	-	NC_000015.10:g.89631610C>A	gnomAD
KIF7	Q2M1P5	p.Gln1001Ter	rs387907045	stop gained	-	NC_000015.10:g.89631605G>A	-
KIF7	Q2M1P5	p.Gln1001His	rs752213543	missense variant	-	NC_000015.10:g.89631603C>A	ExAC
KIF7	Q2M1P5	p.Gln1001Ter	RCV000023883	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631605G>A	ClinVar
KIF7	Q2M1P5	p.Gln1002Ter	rs764805079	stop gained	-	NC_000015.10:g.89631602G>A	ExAC
KIF7	Q2M1P5	p.Ile1003Leu	rs1335471018	missense variant	-	NC_000015.10:g.89631599T>G	gnomAD
KIF7	Q2M1P5	p.Arg1004Cys	rs143309556	missense variant	-	NC_000015.10:g.89631596G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1004His	rs776364872	missense variant	-	NC_000015.10:g.89631595C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly1005Arg	RCV000082815	missense variant	-	NC_000015.10:g.89631593C>T	ClinVar
KIF7	Q2M1P5	p.Gly1005Arg	rs12900805	missense variant	-	NC_000015.10:g.89631593C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1005Arg	rs12900805	missense variant	-	NC_000015.10:g.89631593C>T	UniProt,dbSNP
KIF7	Q2M1P5	p.Gly1005Arg	VAR_035364	missense variant	-	NC_000015.10:g.89631593C>T	UniProt
KIF7	Q2M1P5	p.Gly1005Arg	RCV000332349	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631593C>T	ClinVar
KIF7	Q2M1P5	p.Glu1006Asp	rs773260097	missense variant	-	NC_000015.10:g.89631588C>A	ExAC
KIF7	Q2M1P5	p.Ile1007Met	rs142488318	missense variant	-	NC_000015.10:g.89631585G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp1008Gly	rs769931246	missense variant	-	NC_000015.10:g.89631583T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp1008Asn	rs775366403	missense variant	-	NC_000015.10:g.89631584C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp1008His	rs775366403	missense variant	-	NC_000015.10:g.89631584C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp1008Ala	rs769931246	missense variant	-	NC_000015.10:g.89631583T>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1009Ile	rs373550191	missense variant	-	NC_000015.10:g.89631580C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser1009Thr	rs373550191	missense variant	-	NC_000015.10:g.89631580C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser1009Asn	rs373550191	missense variant	-	NC_000015.10:g.89631580C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1010Gln	rs1490408814	missense variant	-	NC_000015.10:g.89631577A>T	gnomAD
KIF7	Q2M1P5	p.Leu1010Met	rs1181097058	missense variant	-	NC_000015.10:g.89631578G>T	gnomAD
KIF7	Q2M1P5	p.Arg1011His	rs747425807	missense variant	-	NC_000015.10:g.89631574C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1011Cys	rs757590116	missense variant	-	NC_000015.10:g.89631575G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1012Ter	rs1487852454	stop gained	-	NC_000015.10:g.89631572G>A	gnomAD
KIF7	Q2M1P5	p.Glu1013Ter	rs1265391164	stop gained	-	NC_000015.10:g.89631569C>A	gnomAD
KIF7	Q2M1P5	p.Glu1013Asp	rs778245883	missense variant	-	NC_000015.10:g.89631567C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Lys1014Asn	rs753258346	missense variant	-	NC_000015.10:g.89631564C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1014Glu	rs758762297	missense variant	-	NC_000015.10:g.89631566T>C	ExAC,TOPMed
KIF7	Q2M1P5	p.Asp1015Glu	rs369139209	missense variant	-	NC_000015.10:g.89631561G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp1015Glu	rs369139209	missense variant	-	NC_000015.10:g.89631561G>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp1015Asn	rs1286839357	missense variant	-	NC_000015.10:g.89631563C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1016Leu	rs184438388	missense variant	-	NC_000015.10:g.89631559G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1016Pro	rs1346364582	missense variant	-	NC_000015.10:g.89631560A>G	gnomAD
KIF7	Q2M1P5	p.Lys1019Arg	rs760531844	missense variant	-	NC_000015.10:g.89631550T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1019Asn	rs147423714	missense variant	-	NC_000015.10:g.89631549C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1019Gln	COSM3988205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89631551T>G	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Arg1021His	rs1416932636	missense variant	-	NC_000015.10:g.89631544C>T	TOPMed
KIF7	Q2M1P5	p.Arg1021Cys	rs144493884	missense variant	-	NC_000015.10:g.89631545G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1023Lys	rs761599017	missense variant	-	NC_000015.10:g.89631539C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1023Asp	rs774368580	missense variant	-	NC_000015.10:g.89631537C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1023Ter	rs761599017	stop gained	-	NC_000015.10:g.89631539C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ile1024Thr	rs1459630310	missense variant	-	NC_000015.10:g.89631535A>G	TOPMed
KIF7	Q2M1P5	p.Asp1025Asn	rs1261726043	missense variant	-	NC_000015.10:g.89631533C>T	gnomAD
KIF7	Q2M1P5	p.Gly1026Asp	rs866262325	missense variant	-	NC_000015.10:g.89631529C>T	gnomAD
KIF7	Q2M1P5	p.Gly1026Ser	rs1466628518	missense variant	-	NC_000015.10:g.89631530C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1029Lys	rs1208462065	missense variant	-	NC_000015.10:g.89631520C>T	gnomAD
KIF7	Q2M1P5	p.Arg1029Ser	rs547282977	missense variant	-	NC_000015.10:g.89631519C>G	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1029Ser	rs547282977	missense variant	-	NC_000015.10:g.89631519C>A	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Gln1030Arg	rs1257998547	missense variant	-	NC_000015.10:g.89631517T>C	gnomAD
KIF7	Q2M1P5	p.Gln1030Ter	rs1296508158	stop gained	-	NC_000015.10:g.89631518G>A	TOPMed
KIF7	Q2M1P5	p.Gly1031Trp	rs1231255475	missense variant	-	NC_000015.10:g.89631515C>A	gnomAD
KIF7	Q2M1P5	p.Gly1031Arg	rs1231255475	missense variant	-	NC_000015.10:g.89631515C>T	gnomAD
KIF7	Q2M1P5	p.Ser1032Arg	rs771203785	missense variant	-	NC_000015.10:g.89631510A>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1032Ile	rs1415630733	missense variant	-	NC_000015.10:g.89631511C>A	TOPMed
KIF7	Q2M1P5	p.Leu1033Pro	rs1383905030	missense variant	-	NC_000015.10:g.89631508A>G	gnomAD
KIF7	Q2M1P5	p.Ser1035Cys	rs1328455961	missense variant	-	NC_000015.10:g.89631502G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1035Phe	rs1328455961	missense variant	-	NC_000015.10:g.89631502G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1036Leu	rs778051667	missense variant	-	NC_000015.10:g.89631499G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Pro1036Ser	rs1407947785	missense variant	-	NC_000015.10:g.89631500G>A	gnomAD
KIF7	Q2M1P5	p.Glu1037Lys	rs779514045	missense variant	-	NC_000015.10:g.89631497C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1037Ter	rs779514045	stop gained	-	NC_000015.10:g.89631497C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1039Asp	rs140549999	missense variant	-	NC_000015.10:g.89630488C>A	ESP,ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1040Pro	rs748595084	missense variant	-	NC_000015.10:g.89630486C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1040Gln	rs748595084	missense variant	-	NC_000015.10:g.89630486C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1040Trp	rs772293531	missense variant	-	NC_000015.10:g.89630487G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Thr1041Met	rs779273024	missense variant	-	NC_000015.10:g.89630483G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Thr1041Ala	rs1416633296	missense variant	-	NC_000015.10:g.89630484T>C	gnomAD
KIF7	Q2M1P5	p.Phe1043Val	rs1184688512	missense variant	-	NC_000015.10:g.89630478A>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1044Arg	rs1251233063	missense variant	-	NC_000015.10:g.89630474T>C	gnomAD
KIF7	Q2M1P5	p.Ile1049Met	rs1287671158	missense variant	-	NC_000015.10:g.89630458G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ile1049Val	rs1453358728	missense variant	-	NC_000015.10:g.89630460T>C	gnomAD
KIF7	Q2M1P5	p.Ala1051Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89630454C>T	NCI-TCGA
KIF7	Q2M1P5	p.Leu1052Met	rs749819007	missense variant	-	NC_000015.10:g.89630451G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp1053Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89630448C>T	NCI-TCGA
KIF7	Q2M1P5	p.Glu1057Ter	rs1226243795	stop gained	-	NC_000015.10:g.89630436C>A	gnomAD
KIF7	Q2M1P5	p.Tyr1058Cys	rs779655277	missense variant	-	NC_000015.10:g.89630432T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1059Arg	rs1213203111	missense variant	-	NC_000015.10:g.89630429T>C	TOPMed
KIF7	Q2M1P5	p.Asn1060Ser	RCV000254711	missense variant	Macrocephaly with multiple epiphyseal dysplasia and distinctive facies (MMEDF)	NC_000015.10:g.89630426T>C	ClinVar
KIF7	Q2M1P5	p.Asn1060Ser	rs886039282	missense variant	Al-Gazali-Bakalinova syndrome (AGBK)	NC_000015.10:g.89630426T>C	UniProt,dbSNP
KIF7	Q2M1P5	p.Asn1060Ser	VAR_071185	missense variant	Al-Gazali-Bakalinova syndrome (AGBK)	NC_000015.10:g.89630426T>C	UniProt
KIF7	Q2M1P5	p.Asn1060Ser	rs886039282	missense variant	-	NC_000015.10:g.89630426T>C	-
KIF7	Q2M1P5	p.Ile1063Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89630416G>C	NCI-TCGA
KIF7	Q2M1P5	p.Thr1064Ala	rs1438018558	missense variant	-	NC_000015.10:g.89630415T>C	gnomAD
KIF7	Q2M1P5	p.Thr1064Ile	rs1347558209	missense variant	-	NC_000015.10:g.89630414G>A	gnomAD
KIF7	Q2M1P5	p.Cys1065Tyr	rs756984615	missense variant	-	NC_000015.10:g.89630411C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Cys1065Ser	rs1405282773	missense variant	-	NC_000015.10:g.89630412A>T	gnomAD
KIF7	Q2M1P5	p.Arg1066Cys	RCV000598442	missense variant	-	NC_000015.10:g.89630409G>A	ClinVar
KIF7	Q2M1P5	p.Arg1066His	rs763937653	missense variant	-	NC_000015.10:g.89630408C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1066Cys	rs77474187	missense variant	-	NC_000015.10:g.89630409G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1067His	rs201342316	missense variant	-	NC_000015.10:g.89630404C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1068Trp	RCV000638556	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89630403G>A	ClinVar
KIF7	Q2M1P5	p.Arg1068Trp	rs147191956	missense variant	-	NC_000015.10:g.89630403G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1068Trp	rs147191956	missense variant	Bardet-Biedl syndrome (BBS)	NC_000015.10:g.89630403G>A	UniProt,dbSNP
KIF7	Q2M1P5	p.Arg1068Trp	VAR_066456	missense variant	Bardet-Biedl syndrome (BBS)	NC_000015.10:g.89630403G>A	UniProt
KIF7	Q2M1P5	p.Arg1068Pro	rs767837351	missense variant	-	NC_000015.10:g.89630402C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1068Gln	rs767837351	missense variant	-	NC_000015.10:g.89630402C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1070Phe	rs1269830471	missense variant	-	NC_000015.10:g.89630397G>A	gnomAD
KIF7	Q2M1P5	p.Arg1071Gln	rs768917109	missense variant	-	NC_000015.10:g.89630393C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1071Trp	rs570460369	missense variant	-	NC_000015.10:g.89630394G>A	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1071Trp	RCV000175111	missense variant	-	NC_000015.10:g.89630394G>A	ClinVar
KIF7	Q2M1P5	p.Ser1073Leu	COSM4166381	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89630387G>A	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Ala1074Ser	rs202129004	missense variant	-	NC_000015.10:g.89630385C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1075Leu	rs149378390	missense variant	-	NC_000015.10:g.89630381G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1075Trp	rs149378390	missense variant	-	NC_000015.10:g.89630381G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1076Met	rs745423935	missense variant	-	NC_000015.10:g.89630379A>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1077Val	rs1366514608	missense variant	-	NC_000015.10:g.89630376G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1078Cys	rs780698440	missense variant	-	NC_000015.10:g.89630372G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Cys1080Tyr	rs1388289752	missense variant	-	NC_000015.10:g.89630366C>T	gnomAD
KIF7	Q2M1P5	p.Glu1081Lys	rs1416370668	missense variant	-	NC_000015.10:g.89630364C>T	gnomAD
KIF7	Q2M1P5	p.Met1082Ile	rs1423214607	missense variant	-	NC_000015.10:g.89630359C>A	gnomAD
KIF7	Q2M1P5	p.Asn1083Thr	rs746652178	missense variant	-	NC_000015.10:g.89630357T>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Met1085Ile	rs1020101136	missense variant	-	NC_000015.10:g.89630350C>T	gnomAD
KIF7	Q2M1P5	p.Met1085Thr	rs1344802464	missense variant	-	NC_000015.10:g.89630351A>G	TOPMed
KIF7	Q2M1P5	p.Ala1086Val	rs758215908	missense variant	-	NC_000015.10:g.89630348G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala1086Asp	rs758215908	missense variant	-	NC_000015.10:g.89630348G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1088Phe	rs765207161	missense variant	-	NC_000015.10:g.89630343G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1088Val	rs765207161	missense variant	-	NC_000015.10:g.89630343G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser1089Cys	rs1029711579	missense variant	-	NC_000015.10:g.89630340T>A	TOPMed
KIF7	Q2M1P5	p.Tyr1090Ser	rs1211868447	missense variant	-	NC_000015.10:g.89630336T>G	gnomAD
KIF7	Q2M1P5	p.Leu1091Arg	rs767497946	missense variant	-	NC_000015.10:g.89630333A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser1093Phe	rs762038154	missense variant	-	NC_000015.10:g.89630327G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1094Ter	RCV000522960	nonsense	-	NC_000015.10:g.89630324G>C	ClinVar
KIF7	Q2M1P5	p.Ser1094Ter	rs1555423165	stop gained	-	NC_000015.10:g.89630324G>C	-
KIF7	Q2M1P5	p.Ser1094Leu	COSM1478462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89630324G>A	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Glu1095Gly	rs367627150	missense variant	-	NC_000015.10:g.89630321T>C	ESP
KIF7	Q2M1P5	p.Arg1097Ile	COSM966353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89630315C>A	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Ala1098Val	rs764513802	missense variant	-	NC_000015.10:g.89630312G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1099Val	rs1450512577	missense variant	-	NC_000015.10:g.89630310G>C	gnomAD
KIF7	Q2M1P5	p.Cys1101Tyr	rs1175568695	missense variant	-	NC_000015.10:g.89630303C>T	gnomAD
KIF7	Q2M1P5	p.Cys1101Arg	rs372699643	missense variant	-	NC_000015.10:g.89630304A>G	ESP,ExAC,gnomAD
KIF7	Q2M1P5	p.Lys1102Thr	rs745367865	missense variant	-	NC_000015.10:g.89630300T>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp1105Glu	rs530364548	missense variant	-	NC_000015.10:g.89630290G>T	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Val1107Ala	rs1224341278	missense variant	-	NC_000015.10:g.89629572A>G	gnomAD
KIF7	Q2M1P5	p.Val1108Leu	rs1174106948	missense variant	-	NC_000015.10:g.89629570C>G	TOPMed
KIF7	Q2M1P5	p.Thr1109Met	rs189960711	missense variant	-	NC_000015.10:g.89629566G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1110Phe	rs751651054	missense variant	-	NC_000015.10:g.89629564G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1111Gln	rs752985477	missense variant	-	NC_000015.10:g.89629560C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1111Pro	rs752985477	missense variant	-	NC_000015.10:g.89629560C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1111Ter	rs778139192	stop gained	-	NC_000015.10:g.89629561G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1111Ter	RCV000201533	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89629561G>A	ClinVar
KIF7	Q2M1P5	p.Gln1114Arg	rs371926812	missense variant	-	NC_000015.10:g.89629551T>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1114Pro	rs371926812	missense variant	-	NC_000015.10:g.89629551T>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.His1115Gln	RCV000363675	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89629547G>C	ClinVar
KIF7	Q2M1P5	p.His1115Gln	rs142032413	missense variant	-	NC_000015.10:g.89629547G>C	UniProt,dbSNP
KIF7	Q2M1P5	p.His1115Gln	VAR_066457	missense variant	-	NC_000015.10:g.89629547G>C	UniProt
KIF7	Q2M1P5	p.His1115Gln	rs142032413	missense variant	-	NC_000015.10:g.89629547G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.His1115Gln	rs142032413	missense variant	-	NC_000015.10:g.89629547G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1116Ter	rs1159587241	stop gained	-	NC_000015.10:g.89629546G>A	gnomAD
KIF7	Q2M1P5	p.Gln1118Glu	rs1409339522	missense variant	-	NC_000015.10:g.89629540G>C	gnomAD
KIF7	Q2M1P5	p.Gln1118His	COSM416770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89629538C>G	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Ile1119Met	rs1344703606	missense variant	-	NC_000015.10:g.89629535A>C	TOPMed
KIF7	Q2M1P5	p.Ala1120Val	rs1433273605	missense variant	-	NC_000015.10:g.89629533G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala1120Asp	rs1433273605	missense variant	-	NC_000015.10:g.89629533G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1122Ter	rs202195179	stop gained	-	NC_000015.10:g.89629527G>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1122Trp	rs202195179	missense variant	-	NC_000015.10:g.89629527G>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1122Trp	rs202195179	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89629527G>C	UniProt,dbSNP
KIF7	Q2M1P5	p.Ser1122Trp	VAR_077695	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89629527G>C	UniProt
KIF7	Q2M1P5	p.Ser1122Leu	rs202195179	missense variant	-	NC_000015.10:g.89629527G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1123Lys	COSM261686	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89629525C>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Leu1124Met	rs1272984854	missense variant	-	NC_000015.10:g.89629522G>T	gnomAD
KIF7	Q2M1P5	p.Glu1125Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89629518T>C	NCI-TCGA
KIF7	Q2M1P5	p.Gln1127Arg	rs768466946	missense variant	-	NC_000015.10:g.89629512T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln1127Glu	rs774024440	missense variant	-	NC_000015.10:g.89629513G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln1127Ter	rs774024440	stop gained	-	NC_000015.10:g.89629513G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln1131Lys	rs1303482997	missense variant	-	NC_000015.10:g.89629501G>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1131Glu	rs1303482997	missense variant	-	NC_000015.10:g.89629501G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1132Pro	RCV000520855	missense variant	-	NC_000015.10:g.89629497T>G	ClinVar
KIF7	Q2M1P5	p.Gln1132Pro	rs1555423120	missense variant	-	NC_000015.10:g.89629497T>G	-
KIF7	Q2M1P5	p.Arg1133Thr	rs749087784	missense variant	-	NC_000015.10:g.89629494C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Val1135Gly	rs775486378	missense variant	-	NC_000015.10:g.89629488A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Tyr1136Cys	rs769690192	missense variant	-	NC_000015.10:g.89629485T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Trp1137Arg	rs745809521	missense variant	-	NC_000015.10:g.89629483A>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Trp1137Arg	RCV000597071	missense variant	-	NC_000015.10:g.89629483A>G	ClinVar
KIF7	Q2M1P5	p.Glu1139Gly	rs543741055	missense variant	-	NC_000015.10:g.89629476T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1139Gln	rs1477563317	missense variant	-	NC_000015.10:g.89629477C>G	TOPMed
KIF7	Q2M1P5	p.Val1140Gly	rs748345387	missense variant	-	NC_000015.10:g.89629473A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala1141Val	rs1432047844	missense variant	-	NC_000015.10:g.89629470G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1142Met	COSM556339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89629468G>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Glu1143Gly	rs755353975	missense variant	-	NC_000015.10:g.89629464T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1143Gly	RCV000592865	missense variant	-	NC_000015.10:g.89629464T>C	ClinVar
KIF7	Q2M1P5	p.Arg1144Leu	rs756521084	missense variant	-	NC_000015.10:g.89629461C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1144Trp	rs571807299	missense variant	-	NC_000015.10:g.89629462G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1144Gly	rs571807299	missense variant	-	NC_000015.10:g.89629462G>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1144Gln	rs756521084	missense variant	-	NC_000015.10:g.89629461C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1145Ter	rs1204832680	stop gained	-	NC_000015.10:g.89629459G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1146Gly	rs766975299	missense variant	-	NC_000015.10:g.89629456G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1146His	rs761352990	missense variant	-	NC_000015.10:g.89629455C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1146Ser	rs766975299	missense variant	-	NC_000015.10:g.89629456G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1146Cys	rs766975299	missense variant	-	NC_000015.10:g.89629456G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Met1149Thr	rs1040193906	missense variant	-	NC_000015.10:g.89629446A>G	TOPMed
KIF7	Q2M1P5	p.Met1149Leu	rs762806411	missense variant	-	NC_000015.10:g.89629447T>G	ExAC
KIF7	Q2M1P5	p.Asp1150Glu	COSM6143163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89629442G>T	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Arg1151Cys	RCV000369635	missense variant	-	NC_000015.10:g.89629441G>A	ClinVar
KIF7	Q2M1P5	p.Arg1151Cys	rs886044617	missense variant	-	NC_000015.10:g.89629441G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1152His	rs769648374	missense variant	-	NC_000015.10:g.89629436C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1155Pro	rs547004343	missense variant	-	NC_000015.10:g.89629428A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1158Gln	rs748294001	missense variant	-	NC_000015.10:g.89629420T>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1158Glu	rs748294001	missense variant	-	NC_000015.10:g.89629420T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1158Arg	rs534969844	missense variant	-	NC_000015.10:g.89629419T>C	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1159Ala	rs1197021431	missense variant	-	NC_000015.10:g.89629416T>G	TOPMed
KIF7	Q2M1P5	p.His1160Tyr	rs1472890666	missense variant	-	NC_000015.10:g.89629414G>A	TOPMed
KIF7	Q2M1P5	p.His1160Gln	rs755087413	missense variant	-	NC_000015.10:g.89629412G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1161Lys	rs567337105	missense variant	-	NC_000015.10:g.89629411C>T	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1161Lys	RCV000514464	missense variant	-	NC_000015.10:g.89629411C>T	ClinVar
KIF7	Q2M1P5	p.Met1164Thr	rs750898883	missense variant	-	NC_000015.10:g.89629401A>G	ExAC
KIF7	Q2M1P5	p.Gln1165Lys	rs768061319	missense variant	-	NC_000015.10:g.89629399G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1167Phe	rs1258546963	missense variant	-	NC_000015.10:g.89629393G>A	gnomAD
KIF7	Q2M1P5	p.Gln1170His	rs1198876598	missense variant	-	NC_000015.10:g.89629382C>A	gnomAD
KIF7	Q2M1P5	p.Arg1172Gly	rs138196132	missense variant	-	NC_000015.10:g.89629378G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1172Gln	rs1275424943	missense variant	-	NC_000015.10:g.89629377C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1175Ile	rs1274899790	missense variant	-	NC_000015.10:g.89629117G>T	gnomAD
KIF7	Q2M1P5	p.Gly1176Ser	rs76346806	missense variant	-	NC_000015.10:g.89629114C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1176Arg	rs76346806	missense variant	-	NC_000015.10:g.89629114C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1176Cys	rs76346806	missense variant	-	NC_000015.10:g.89629114C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1177Asp	rs753565474	missense variant	-	NC_000015.10:g.89629109T>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp1181Glu	rs760557998	missense variant	-	NC_000015.10:g.89629097G>T	ExAC
KIF7	Q2M1P5	p.Asp1181Gly	rs766236000	missense variant	-	NC_000015.10:g.89629098T>C	ExAC
KIF7	Q2M1P5	p.Ser1182Arg	rs750306469	missense variant	-	NC_000015.10:g.89629094G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1183Ser	rs1399165027	missense variant	-	NC_000015.10:g.89629091C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1183Lys	rs1161738369	missense variant	-	NC_000015.10:g.89629092C>T	gnomAD
KIF7	Q2M1P5	p.Gln1185Lys	rs767550455	missense variant	-	NC_000015.10:g.89629087G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln1185Leu	rs1479026507	missense variant	-	NC_000015.10:g.89629086T>A	gnomAD
KIF7	Q2M1P5	p.Tyr1186Phe	rs762939772	missense variant	-	NC_000015.10:g.89629083T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1187Gly	rs775574580	missense variant	-	NC_000015.10:g.89629080T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1189Gln	rs759709247	missense variant	-	NC_000015.10:g.89629074C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1189Trp	rs765317455	missense variant	-	NC_000015.10:g.89629075G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1189Leu	rs759709247	missense variant	-	NC_000015.10:g.89629074C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1189Pro	rs759709247	missense variant	-	NC_000015.10:g.89629074C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gln1191Glu	rs1336053928	missense variant	-	NC_000015.10:g.89629069G>C	TOPMed
KIF7	Q2M1P5	p.Gln1191Arg	rs776873744	missense variant	-	NC_000015.10:g.89629068T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Ala1192Gly	rs771258913	missense variant	-	NC_000015.10:g.89629065G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1193Met	rs542602146	missense variant	-	NC_000015.10:g.89629063G>T	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Lys1195Asn	rs200782729	missense variant	-	NC_000015.10:g.89629055C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1195Glu	rs772561330	missense variant	-	NC_000015.10:g.89629057T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1196Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89629054C>T	NCI-TCGA
KIF7	Q2M1P5	p.Gly1198Arg	rs778515321	missense variant	-	NC_000015.10:g.89629048C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1199Gly	rs748917501	missense variant	-	NC_000015.10:g.89629045G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1199His	rs779900744	missense variant	-	NC_000015.10:g.89629044C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1199Cys	rs748917501	missense variant	-	NC_000015.10:g.89629045G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Tyr1200Ter	rs755847868	stop gained	-	NC_000015.10:g.89629040G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Tyr1200Ter	rs754566088	stop gained	-	NC_000015.10:g.89629041dup	ExAC
KIF7	Q2M1P5	p.Met1201Thr	rs140710600	missense variant	-	NC_000015.10:g.89629038A>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn1204Lys	rs918639337	missense variant	-	NC_000015.10:g.89629028G>T	gnomAD
KIF7	Q2M1P5	p.Asn1204Lys	rs918639337	missense variant	-	NC_000015.10:g.89629028G>C	gnomAD
KIF7	Q2M1P5	p.Glu1206Lys	rs767222111	missense variant	-	NC_000015.10:g.89629024C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1210Glu	rs751522626	missense variant	-	NC_000015.10:g.89629012T>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1211Arg	rs765264293	missense variant	-	NC_000015.10:g.89629008A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly1212Ser	rs776816025	missense variant	-	NC_000015.10:g.89629006C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly1213Ser	rs143316368	missense variant	-	NC_000015.10:g.89629003C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1213Arg	rs143316368	missense variant	-	NC_000015.10:g.89629003C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1213Cys	rs143316368	missense variant	-	NC_000015.10:g.89629003C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val1214Met	rs773564872	missense variant	-	NC_000015.10:g.89629000C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Val1214Leu	rs773564872	missense variant	-	NC_000015.10:g.89629000C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Asn1215Ser	rs1300396333	missense variant	-	NC_000015.10:g.89628996T>C	gnomAD
KIF7	Q2M1P5	p.Asn1215Ile	rs1300396333	missense variant	-	NC_000015.10:g.89628996T>A	gnomAD
KIF7	Q2M1P5	p.Ala1216Thr	rs748648030	missense variant	-	NC_000015.10:g.89628994C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.His1219Tyr	rs1391595744	missense variant	-	NC_000015.10:g.89628985G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.His1219Asn	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89628985G>T	NCI-TCGA
KIF7	Q2M1P5	p.Arg1221Thr	rs1373758464	missense variant	-	NC_000015.10:g.89628978C>G	gnomAD
KIF7	Q2M1P5	p.Arg1221Ser	rs768259676	missense variant	-	NC_000015.10:g.89628977C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly1222Ser	rs748866222	missense variant	-	NC_000015.10:g.89628976C>T	ExAC
KIF7	Q2M1P5	p.Gly1223Trp	rs1253883409	missense variant	-	NC_000015.10:g.89628784C>A	TOPMed
KIF7	Q2M1P5	p.Glu1224Lys	rs770740912	missense variant	-	NC_000015.10:g.89628781C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1226Lys	rs551619127	missense variant	-	NC_000015.10:g.89628774C>T	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1228Gln	rs1331387786	missense variant	-	NC_000015.10:g.89628768A>T	gnomAD
KIF7	Q2M1P5	p.Ser1230Leu	rs780139363	missense variant	-	NC_000015.10:g.89628762G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1230Trp	rs780139363	missense variant	-	NC_000015.10:g.89628762G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1232Asp	rs1327979036	missense variant	-	NC_000015.10:g.89628756C>T	gnomAD
KIF7	Q2M1P5	p.Arg1233Gly	rs1410298399	missense variant	-	NC_000015.10:g.89628754T>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1233Thr	rs750635928	missense variant	-	NC_000015.10:g.89628753C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1233Ile	rs750635928	missense variant	-	NC_000015.10:g.89628753C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gln1234Glu	rs1438460995	missense variant	-	NC_000015.10:g.89628751G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala1235Val	rs767690124	missense variant	-	NC_000015.10:g.89628747G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn1238Ser	rs371960047	missense variant	-	NC_000015.10:g.89628738T>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn1238Thr	rs371960047	missense variant	-	NC_000015.10:g.89628738T>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn1238Lys	rs763506306	missense variant	-	NC_000015.10:g.89628737A>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn1238Lys	rs763506306	missense variant	-	NC_000015.10:g.89628737A>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1241Gln	rs1426497099	missense variant	-	NC_000015.10:g.89628730C>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.His1243Asn	rs1467465513	missense variant	-	NC_000015.10:g.89628724G>T	gnomAD
KIF7	Q2M1P5	p.Ala1245Val	rs1486955587	missense variant	-	NC_000015.10:g.89628717G>A	gnomAD
KIF7	Q2M1P5	p.Ala1245Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89628718C>T	NCI-TCGA
KIF7	Q2M1P5	p.Pro1246Ser	rs374693639	missense variant	-	NC_000015.10:g.89628715G>A	ESP,ExAC,gnomAD
KIF7	Q2M1P5	p.Pro1246Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89628714G>A	NCI-TCGA
KIF7	Q2M1P5	p.Glu1247Lys	rs149883801	missense variant	-	NC_000015.10:g.89628712C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1247Asp	rs771882581	missense variant	-	NC_000015.10:g.89628710C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1248Val	rs201519024	missense variant	-	NC_000015.10:g.89628709G>C	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1248His	rs778763577	missense variant	-	NC_000015.10:g.89628708A>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1248Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89628709G>T	NCI-TCGA
KIF7	Q2M1P5	p.Leu1249Phe	rs746002125	missense variant	-	NC_000015.10:g.89628706G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1249Ile	rs746002125	missense variant	-	NC_000015.10:g.89628706G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1249Pro	rs1425603781	missense variant	-	NC_000015.10:g.89628705A>G	TOPMed
KIF7	Q2M1P5	p.Trp1250Ter	rs781336592	stop gained	-	NC_000015.10:g.89628702C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1252Phe	rs546772749	missense variant	-	NC_000015.10:g.89628696G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1253Ala	rs1378851545	missense variant	-	NC_000015.10:g.89628694G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1253Ser	rs1378851545	missense variant	-	NC_000015.10:g.89628694G>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1253Leu	rs371645372	missense variant	-	NC_000015.10:g.89628693G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1253His	rs371645372	missense variant	-	NC_000015.10:g.89628693G>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1254Ile	rs528407611	missense variant	-	NC_000015.10:g.89628691G>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1254Pro	rs759086470	missense variant	-	NC_000015.10:g.89628690A>G	ExAC
KIF7	Q2M1P5	p.Leu1254Val	rs528407611	missense variant	-	NC_000015.10:g.89628691G>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1254Phe	rs528407611	missense variant	-	NC_000015.10:g.89628691G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1254SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.89628691G>-	NCI-TCGA
KIF7	Q2M1P5	p.Thr1255Ile	rs1297493558	missense variant	-	NC_000015.10:g.89628687G>A	TOPMed
KIF7	Q2M1P5	p.Thr1255Pro	rs775942651	missense variant	-	NC_000015.10:g.89628688T>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1256Lys	rs1307825021	missense variant	-	NC_000015.10:g.89628685C>T	TOPMed
KIF7	Q2M1P5	p.Glu1256Asp	rs1189649262	missense variant	-	NC_000015.10:g.89628683C>A	gnomAD
KIF7	Q2M1P5	p.Gly1257Glu	rs1208922826	missense variant	-	NC_000015.10:g.89628681C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1257Val	rs1208922826	missense variant	-	NC_000015.10:g.89628681C>A	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala1258Asp	rs367833833	missense variant	-	NC_000015.10:g.89628678G>T	ESP,TOPMed
KIF7	Q2M1P5	p.Ala1258ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.89628678_89628679GC>-	NCI-TCGA
KIF7	Q2M1P5	p.Pro1259Thr	rs1347265316	missense variant	-	NC_000015.10:g.89628676G>T	gnomAD
KIF7	Q2M1P5	p.Pro1259His	rs765893045	missense variant	-	NC_000015.10:g.89628675G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1260AlaPheSerTerUnkUnk	COSM1375348	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.89628673G>-	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Arg1260Cys	rs140562404	missense variant	-	NC_000015.10:g.89628673G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr1261Asn	rs147195322	missense variant	-	NC_000015.10:g.89628669G>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr1261Pro	rs1282537053	missense variant	-	NC_000015.10:g.89628670T>G	gnomAD
KIF7	Q2M1P5	p.Arg1262Leu	rs561205514	missense variant	-	NC_000015.10:g.89628666C>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1262Gln	rs561205514	missense variant	-	NC_000015.10:g.89628666C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1262Trp	rs142598777	missense variant	-	NC_000015.10:g.89628667G>A	ESP,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1263Gly	rs768543012	missense variant	-	NC_000015.10:g.89628663T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Thr1265Met	rs747632760	missense variant	-	NC_000015.10:g.89628657G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1266Gln	rs144301755	missense variant	-	NC_000015.10:g.89628654C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1266Trp	rs747263865	missense variant	-	NC_000015.10:g.89628655G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp1267Glu	rs371596537	missense variant	-	NC_000015.10:g.89628650G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Val1269Ala	rs752933212	missense variant	-	NC_000015.10:g.89628645A>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala1271Thr	rs754341930	missense variant	-	NC_000015.10:g.89628640C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1272Leu	rs765907353	missense variant	-	NC_000015.10:g.89628636G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1273Phe	rs1185925641	missense variant	-	NC_000015.10:g.89628632T>A	gnomAD
KIF7	Q2M1P5	p.Leu1273Ile	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89628634A>T	NCI-TCGA
KIF7	Q2M1P5	p.Pro1274Ser	rs767091542	missense variant	-	NC_000015.10:g.89628631G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1274Ala	rs767091542	missense variant	-	NC_000015.10:g.89628631G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Thr1276Ile	rs774071217	missense variant	-	NC_000015.10:g.89628624G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1279Cys	rs749221779	missense variant	-	NC_000015.10:g.89628616G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1280Leu	rs775526351	missense variant	-	NC_000015.10:g.89628612G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser1281Ile	rs143877028	missense variant	-	NC_000015.10:g.89628609C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1282Arg	rs778142943	missense variant	-	NC_000015.10:g.89628606A>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly1284Ala	rs544791294	missense variant	-	NC_000015.10:g.89628600C>G	1000Genomes,ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1285Lys	rs755333464	missense variant	-	NC_000015.10:g.89628598C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1285Gly	rs754326027	missense variant	-	NC_000015.10:g.89628597T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1285Val	rs754326027	missense variant	-	NC_000015.10:g.89628597T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1285Ter	rs755333464	stop gained	-	NC_000015.10:g.89628598C>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Gly1288Trp	rs1167726963	missense variant	-	NC_000015.10:g.89628589C>A	gnomAD
KIF7	Q2M1P5	p.Gly1288Glu	rs1481067037	missense variant	-	NC_000015.10:g.89628588C>T	TOPMed
KIF7	Q2M1P5	p.Ser1289Phe	rs750002097	missense variant	-	NC_000015.10:g.89628585G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1289Tyr	rs750002097	missense variant	-	NC_000015.10:g.89628585G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1291Gln	rs751191936	missense variant	-	NC_000015.10:g.89628580C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1291Lys	rs751191936	missense variant	-	NC_000015.10:g.89628580C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1291Asp	rs763825284	missense variant	-	NC_000015.10:g.89628578C>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1291ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.89628581G>-	NCI-TCGA
KIF7	Q2M1P5	p.Glu1292Lys	rs1044478234	missense variant	-	NC_000015.10:g.89628577C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Glu1292Val	rs1286920618	missense variant	-	NC_000015.10:g.89628576T>A	TOPMed
KIF7	Q2M1P5	p.Leu1293Met	rs775579416	missense variant	-	NC_000015.10:g.89628574G>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1296Trp	rs769783876	missense variant	-	NC_000015.10:g.89628565G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1296Gln	rs201363681	missense variant	-	NC_000015.10:g.89628564C>T	TOPMed,gnomAD
KIF7	Q2M1P5	p.Ala1298Val	rs146300227	missense variant	-	NC_000015.10:g.89628558G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1301Thr	rs779149527	missense variant	-	NC_000015.10:g.89628550G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Pro1301Arg	rs768917178	missense variant	-	NC_000015.10:g.89628549G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Val1303Leu	rs756672880	missense variant	-	NC_000015.10:g.89628544C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1304Glu	rs750907041	missense variant	-	NC_000015.10:g.89628540C>T	ExAC
KIF7	Q2M1P5	p.Arg1305Gln	RCV000302149	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89628537C>T	ClinVar
KIF7	Q2M1P5	p.Arg1305Gly	rs756750505	missense variant	-	NC_000015.10:g.89628538G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1305Trp	rs756750505	missense variant	-	NC_000015.10:g.89628538G>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1305Gln	RCV000175496	missense variant	-	NC_000015.10:g.89628537C>T	ClinVar
KIF7	Q2M1P5	p.Arg1305Gln	rs138993311	missense variant	-	NC_000015.10:g.89628537C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1308Leu	rs1199407709	missense variant	-	NC_000015.10:g.89628528G>A	gnomAD
KIF7	Q2M1P5	p.Glu1311Ala	rs752603278	missense variant	-	NC_000015.10:g.89628519T>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Glu1311Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89628520C>T	NCI-TCGA
KIF7	Q2M1P5	p.Gly1313Asp	rs759591288	missense variant	-	NC_000015.10:g.89628513C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1313Ala	rs759591288	missense variant	-	NC_000015.10:g.89628513C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1313Ser	rs1212738375	missense variant	-	NC_000015.10:g.89628514C>T	gnomAD
KIF7	Q2M1P5	p.Pro1315Ser	rs149448369	missense variant	-	NC_000015.10:g.89628508G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1315Leu	RCV000175498	missense variant	-	NC_000015.10:g.89628507G>A	ClinVar
KIF7	Q2M1P5	p.Pro1315Leu	RCV000529413	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89628507G>A	ClinVar
KIF7	Q2M1P5	p.Pro1315Leu	rs150248985	missense variant	-	NC_000015.10:g.89628507G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1315His	rs150248985	missense variant	-	NC_000015.10:g.89628507G>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asn1317Thr	rs774442900	missense variant	-	NC_000015.10:g.89628501T>G	ExAC,gnomAD
KIF7	Q2M1P5	p.Asn1317Lys	rs1367281895	missense variant	-	NC_000015.10:g.89628500G>T	TOPMed
KIF7	Q2M1P5	p.Phe1318Ser	rs768990207	missense variant	-	NC_000015.10:g.89628498A>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Gly1319Arg	rs749499441	missense variant	-	NC_000015.10:g.89628496C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1320Ser	rs1301660180	missense variant	-	NC_000015.10:g.89628493G>A	gnomAD
KIF7	Q2M1P5	p.Pro1320Arg	rs775882284	missense variant	-	NC_000015.10:g.89628492G>C	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Pro1320Thr	rs1301660180	missense variant	-	NC_000015.10:g.89628493G>T	gnomAD
KIF7	Q2M1P5	p.Leu1321Ser	rs375983330	missense variant	-	NC_000015.10:g.89628489A>G	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1322Pro	rs200891085	missense variant	-	NC_000015.10:g.89628487A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Ser1322Cys	rs1163281822	missense variant	-	NC_000015.10:g.89628486G>C	TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1323Glu	rs143516080	missense variant	-	NC_000015.10:g.89628484T>C	ESP,TOPMed
KIF7	Q2M1P5	p.Lys1323Arg	rs537735484	missense variant	-	NC_000015.10:g.89628483T>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1323Arg	RCV000638552	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89628483T>C	ClinVar
KIF7	Q2M1P5	p.Lys1323Asn	rs1174249428	missense variant	-	NC_000015.10:g.89628482C>A	gnomAD
KIF7	Q2M1P5	p.Arg1325Trp	rs777140020	missense variant	-	NC_000015.10:g.89628478G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1325Gln	rs73477443	missense variant	-	NC_000015.10:g.89628477C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1326Trp	rs372979006	missense variant	-	NC_000015.10:g.89628475G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1326Gln	rs141225908	missense variant	-	NC_000015.10:g.89628474C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1328Arg	rs1176466407	missense variant	-	NC_000015.10:g.89628468A>C	TOPMed
KIF7	Q2M1P5	p.Arg1329Leu	rs202214398	missense variant	-	NC_000015.10:g.89628465C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1329Pro	rs202214398	missense variant	-	NC_000015.10:g.89628465C>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1329Gln	rs202214398	missense variant	-	NC_000015.10:g.89628465C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1329Ter	rs147772494	stop gained	-	NC_000015.10:g.89628466G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1329_Ser1332del	VAR_066458	inframe_deletion	Joubert syndrome 12 (JBTS12) [MIM:200990]	-	UniProt
KIF7	Q2M1P5	p.Arg1330Ter	rs370123540	stop gained	-	NC_000015.10:g.89628463G>A	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1330Gly	rs370123540	missense variant	-	NC_000015.10:g.89628463G>C	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1330Gln	rs377066237	missense variant	-	NC_000015.10:g.89628462C>T	ESP,ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1330Pro	COSM4837367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89628462C>G	NCI-TCGA Cosmic
KIF7	Q2M1P5	p.Ala1331Val	rs1363015734	missense variant	-	NC_000015.10:g.89628459G>A	gnomAD
KIF7	Q2M1P5	p.Ala1331Thr	rs775649452	missense variant	-	NC_000015.10:g.89628460C>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser1332Arg	rs770165381	missense variant	-	NC_000015.10:g.89628455G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Ser1332Gly	rs1329426953	missense variant	-	NC_000015.10:g.89628457T>C	TOPMed
KIF7	Q2M1P5	p.Pro1333Gln	rs145726393	missense variant	-	NC_000015.10:g.89628453G>T	1000Genomes,ESP,ExAC,TOPMed
KIF7	Q2M1P5	p.Pro1333Gln	RCV000175494	missense variant	-	NC_000015.10:g.89628453G>T	ClinVar
KIF7	Q2M1P5	p.Pro1333Arg	rs145726393	missense variant	-	NC_000015.10:g.89628453G>C	1000Genomes,ESP,ExAC,TOPMed
KIF7	Q2M1P5	p.Pro1333Leu	rs145726393	missense variant	-	NC_000015.10:g.89628453G>A	1000Genomes,ESP,ExAC,TOPMed
KIF7	Q2M1P5	p.Gly1334Arg	rs1271173524	missense variant	-	NC_000015.10:g.89628451C>G	gnomAD
KIF7	Q2M1P5	p.Met1335Ile	rs1373573111	missense variant	-	NC_000015.10:g.89628446C>T	gnomAD
KIF7	Q2M1P5	p.Met1335Lys	rs771532005	missense variant	-	NC_000015.10:g.89628447A>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Met1335Leu	NCI-TCGA novel	missense variant	-	NC_000015.10:g.89628448T>A	NCI-TCGA
KIF7	Q2M1P5	p.Ile1336Thr	rs747455856	missense variant	-	NC_000015.10:g.89628444A>G	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Asp1337Val	rs777387974	missense variant	-	NC_000015.10:g.89628441T>A	ExAC,gnomAD
KIF7	Q2M1P5	p.Asp1337Gly	rs777387974	missense variant	-	NC_000015.10:g.89628441T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Arg1339Gln	rs747829509	missense variant	-	NC_000015.10:g.89628435C>T	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1339Leu	rs747829509	missense variant	-	NC_000015.10:g.89628435C>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Arg1339Trp	rs757946358	missense variant	-	NC_000015.10:g.89628436G>A	ExAC,TOPMed,gnomAD
KIF7	Q2M1P5	p.Lys1340Arg	rs778654148	missense variant	-	NC_000015.10:g.89628432T>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Asn1341Thr	rs199526156	missense variant	-	NC_000015.10:g.89628429T>G	-
KIF7	Q2M1P5	p.Pro1342His	rs757991046	missense variant	-	NC_000015.10:g.89628426G>T	ExAC,gnomAD
KIF7	Q2M1P5	p.Pro1342Ser	rs1196224413	missense variant	-	NC_000015.10:g.89628427G>A	TOPMed
KIF7	Q2M1P5	p.Pro1342Arg	rs757991046	missense variant	-	NC_000015.10:g.89628426G>C	ExAC,gnomAD
KIF7	Q2M1P5	p.Leu1343Val	rs1278824560	missense variant	-	NC_000015.10:g.89628424G>C	gnomAD
KIF7	Q2M1P5	p.Leu1343Pro	rs1210799751	missense variant	-	NC_000015.10:g.89628423A>G	TOPMed,gnomAD
KIF7	Q2M1P5	p.Leu1343Arg	rs1210799751	missense variant	-	NC_000015.10:g.89628423A>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Phe2Ile	rs749915025	missense variant	-	NC_000010.11:g.69220439T>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Ala3Val	rs757822416	missense variant	-	NC_000010.11:g.69220443C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Val4Ile	rs1363202796	missense variant	-	NC_000010.11:g.69220445G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu6Ser	rs539132157	missense variant	-	NC_000010.11:g.69220452T>C	1000Genomes,gnomAD
HKDC1	Q2TB90	p.Phe9Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69220460T>C	NCI-TCGA
HKDC1	Q2TB90	p.Ser12Asn	rs1314297969	missense variant	-	NC_000010.11:g.69220470G>A	gnomAD
HKDC1	Q2TB90	p.Leu14Met	rs781349629	missense variant	-	NC_000010.11:g.69220475C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu16Gly	rs144737613	missense variant	-	NC_000010.11:g.69220482A>G	ESP,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp17Glu	rs769960575	missense variant	-	NC_000010.11:g.69220486C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Gln18Lys	rs1230394269	missense variant	-	NC_000010.11:g.69220487C>A	gnomAD
HKDC1	Q2TB90	p.Ile19Leu	rs773389361	missense variant	-	NC_000010.11:g.69220490A>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Val22Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69227207G>T	NCI-TCGA
HKDC1	Q2TB90	p.Asp23Asn	rs774238377	missense variant	-	NC_000010.11:g.69227210G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Asp23Gly	rs746989246	missense variant	-	NC_000010.11:g.69227211A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg24Met	rs1449338509	missense variant	-	NC_000010.11:g.69227214G>T	gnomAD
HKDC1	Q2TB90	p.Leu26Gln	rs1174394401	missense variant	-	NC_000010.11:g.69227220T>A	gnomAD
HKDC1	Q2TB90	p.Arg30Gln	rs1457435413	missense variant	-	NC_000010.11:g.69227232G>A	TOPMed
HKDC1	Q2TB90	p.Arg30Trp	rs990696322	missense variant	-	NC_000010.11:g.69227231C>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser32Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69227238C>T	NCI-TCGA
HKDC1	Q2TB90	p.Ser32AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.69227231_69227232insGGCT	NCI-TCGA
HKDC1	Q2TB90	p.Asp33Asn	rs147449838	missense variant	-	NC_000010.11:g.69227240G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp33Glu	rs1314791510	missense variant	-	NC_000010.11:g.69227242T>A	gnomAD
HKDC1	Q2TB90	p.Leu36Ile	rs761756731	missense variant	-	NC_000010.11:g.69227249C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu37Trp	rs368046305	missense variant	-	NC_000010.11:g.69227253T>G	ESP,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu37PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.69227249_69227250insT	NCI-TCGA
HKDC1	Q2TB90	p.Asp38Asn	rs1367131209	missense variant	-	NC_000010.11:g.69227255G>A	gnomAD
HKDC1	Q2TB90	p.Met40Ile	rs769706917	missense variant	-	NC_000010.11:g.69227263G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Met40Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69227263G>T	NCI-TCGA
HKDC1	Q2TB90	p.Arg41Met	rs773002957	missense variant	-	NC_000010.11:g.69227265G>T	ExAC
HKDC1	Q2TB90	p.Arg42Leu	rs145939161	missense variant	-	NC_000010.11:g.69227268G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg42Gln	rs145939161	missense variant	-	NC_000010.11:g.69227268G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg42Trp	rs139901086	missense variant	-	NC_000010.11:g.69227267C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Phe43Leu	rs759051888	missense variant	-	NC_000010.11:g.69227270T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Phe43Ile	rs759051888	missense variant	-	NC_000010.11:g.69227270T>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg44Gln	rs200818764	missense variant	-	NC_000010.11:g.69227274G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg44Trp	rs372174004	missense variant	-	NC_000010.11:g.69227273C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg44Pro	rs200818764	missense variant	-	NC_000010.11:g.69227274G>C	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala45Thr	rs1215238873	missense variant	-	NC_000010.11:g.69227276G>A	TOPMed
HKDC1	Q2TB90	p.Glu46Lys	rs200216341	missense variant	-	NC_000010.11:g.69227279G>A	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Glu46Asp	rs1164805984	missense variant	-	NC_000010.11:g.69227281G>T	gnomAD
HKDC1	Q2TB90	p.Met47Thr	rs1416192032	missense variant	-	NC_000010.11:g.69227283T>C	gnomAD
HKDC1	Q2TB90	p.Gly50Ser	rs915524808	missense variant	-	NC_000010.11:g.69227291G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu51Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69227295T>A	NCI-TCGA
HKDC1	Q2TB90	p.Lys53Arg	rs1329813254	missense variant	-	NC_000010.11:g.69227301A>G	gnomAD
HKDC1	Q2TB90	p.Asp54Gly	rs10823320	missense variant	-	NC_000010.11:g.69227304A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp54Ala	rs10823320	missense variant	-	NC_000010.11:g.69227304A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr55Pro	rs1440122474	missense variant	-	NC_000010.11:g.69227306A>C	gnomAD
HKDC1	Q2TB90	p.Thr55Ala	rs1440122474	missense variant	-	NC_000010.11:g.69227306A>G	gnomAD
HKDC1	Q2TB90	p.Thr55Asn	rs745977543	missense variant	-	NC_000010.11:g.69227307C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Pro57Ser	rs1356164295	missense variant	-	NC_000010.11:g.69227312C>T	gnomAD
HKDC1	Q2TB90	p.Thr58Ser	rs149191020	missense variant	-	NC_000010.11:g.69227315A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr58Lys	rs142379141	missense variant	-	NC_000010.11:g.69227316C>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr58Ala	rs149191020	missense variant	-	NC_000010.11:g.69227315A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr58Met	rs142379141	missense variant	-	NC_000010.11:g.69227316C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr58ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.69227310_69227311insCC	NCI-TCGA
HKDC1	Q2TB90	p.Ala59Val	rs1214891454	missense variant	-	NC_000010.11:g.69227319C>T	gnomAD
HKDC1	Q2TB90	p.Val61Met	rs551212116	missense variant	-	NC_000010.11:g.69227324G>A	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Val61Glu	rs1435785800	missense variant	-	NC_000010.11:g.69227325T>A	gnomAD
HKDC1	Q2TB90	p.Met63Leu	rs1444849836	missense variant	-	NC_000010.11:g.69227330A>T	TOPMed
HKDC1	Q2TB90	p.Leu64Ser	rs1399764254	missense variant	-	NC_000010.11:g.69227334T>C	TOPMed
HKDC1	Q2TB90	p.Thr66Asn	rs74138158	missense variant	-	NC_000010.11:g.69227340C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr66Ser	rs74138158	missense variant	-	NC_000010.11:g.69227340C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr66Ile	rs74138158	missense variant	-	NC_000010.11:g.69227340C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val68Ile	rs759029504	missense variant	-	NC_000010.11:g.69227345G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg69Thr	rs753210133	missense variant	-	NC_000010.11:g.69227349G>C	ExAC
HKDC1	Q2TB90	p.Ala70Val	rs886102574	missense variant	-	NC_000010.11:g.69227352C>T	TOPMed
HKDC1	Q2TB90	p.Ile71Val	rs1476599749	missense variant	-	NC_000010.11:g.69227354A>G	gnomAD
HKDC1	Q2TB90	p.Asp73Asn	rs754115538	missense variant	-	NC_000010.11:g.69227360G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser75Phe	rs1408493981	missense variant	-	NC_000010.11:g.69227367C>T	gnomAD
HKDC1	Q2TB90	p.Glu76Lys	rs779055823	missense variant	-	NC_000010.11:g.69227369G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly78Trp	rs1038840704	missense variant	-	NC_000010.11:g.69232769G>T	TOPMed
HKDC1	Q2TB90	p.Gly86Arg	rs201928386	missense variant	-	NC_000010.11:g.69232793G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys89Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69232803A>C	NCI-TCGA
HKDC1	Q2TB90	p.Arg91Gln	rs535368605	missense variant	-	NC_000010.11:g.69232809G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg91Ter	rs374874844	stop gained	-	NC_000010.11:g.69232808C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val92Ala	rs777627985	missense variant	-	NC_000010.11:g.69232812T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val92Glu	rs777627985	missense variant	-	NC_000010.11:g.69232812T>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu93Arg	rs145373338	missense variant	-	NC_000010.11:g.69232815T>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu93Gln	rs145373338	missense variant	-	NC_000010.11:g.69232815T>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys94Thr	rs374745925	missense variant	-	NC_000010.11:g.69232818A>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Val95Leu	rs775603000	missense variant	-	NC_000010.11:g.69232820G>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala98Thr	rs771677758	missense variant	-	NC_000010.11:g.69232829G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly101Trp	RCV000736152	missense variant	-	NC_000010.11:g.69232838G>T	ClinVar
HKDC1	Q2TB90	p.Gly101Val	rs746574175	missense variant	-	NC_000010.11:g.69232839G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly101Glu	rs746574175	missense variant	-	NC_000010.11:g.69232839G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Lys102Arg	rs1308659867	missense variant	-	NC_000010.11:g.69232842A>G	gnomAD
HKDC1	Q2TB90	p.Arg103Gln	rs777007060	missense variant	-	NC_000010.11:g.69232845G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg103Ter	rs201010349	stop gained	-	NC_000010.11:g.69232844C>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.His104Gln	rs181028981	missense variant	-	NC_000010.11:g.69232849C>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val105Met	rs575180113	missense variant	-	NC_000010.11:g.69232850G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gln106Arg	rs1413075018	missense variant	-	NC_000010.11:g.69232854A>G	gnomAD
HKDC1	Q2TB90	p.Met107Leu	rs773667832	missense variant	-	NC_000010.11:g.69232856A>C	ExAC,TOPMed
HKDC1	Q2TB90	p.Met107Val	rs773667832	missense variant	-	NC_000010.11:g.69232856A>G	ExAC,TOPMed
HKDC1	Q2TB90	p.Met107Thr	rs1023702925	missense variant	-	NC_000010.11:g.69232857T>C	TOPMed
HKDC1	Q2TB90	p.Glu108Ter	rs377327285	stop gained	-	NC_000010.11:g.69232859G>T	ESP,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu108Asp	rs137872948	missense variant	-	NC_000010.11:g.69232861G>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser109Gly	rs1212089669	missense variant	-	NC_000010.11:g.69232862A>G	gnomAD
HKDC1	Q2TB90	p.Ser109Asn	rs140840058	missense variant	-	NC_000010.11:g.69232863G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gln110Glu	rs752581214	missense variant	-	NC_000010.11:g.69232865C>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Gln110Ter	COSM919881	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.69232865C>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Phe111Leu	rs755173680	missense variant	-	NC_000010.11:g.69232870C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Phe111Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69232870C>G	NCI-TCGA
HKDC1	Q2TB90	p.Pro113Gln	rs1426650772	missense variant	-	NC_000010.11:g.69232875C>A	TOPMed
HKDC1	Q2TB90	p.Pro113Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69232875C>T	NCI-TCGA
HKDC1	Q2TB90	p.Thr114Lys	rs35746503	missense variant	-	NC_000010.11:g.69232878C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr114Met	rs35746503	missense variant	-	NC_000010.11:g.69232878C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Pro115Ala	rs1165537102	missense variant	-	NC_000010.11:g.69232880C>G	gnomAD
HKDC1	Q2TB90	p.Pro115Thr	rs1165537102	missense variant	-	NC_000010.11:g.69232880C>A	gnomAD
HKDC1	Q2TB90	p.Asn116Ser	rs112078514	missense variant	-	NC_000010.11:g.69232884A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asn116Ile	rs112078514	missense variant	-	NC_000010.11:g.69232884A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu117Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69232888A>T	NCI-TCGA
HKDC1	Q2TB90	p.Arg120Ser	rs539903056	missense variant	-	NC_000010.11:g.69232895C>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg120Cys	rs539903056	missense variant	-	NC_000010.11:g.69232895C>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg120His	rs200115968	missense variant	-	NC_000010.11:g.69232896G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly121Arg	rs1326361327	missense variant	-	NC_000010.11:g.69232898G>A	gnomAD
HKDC1	Q2TB90	p.Gly121Glu	rs768062530	missense variant	-	NC_000010.11:g.69232899G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly123Ser	rs757010965	missense variant	-	NC_000010.11:g.69232904G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly123Arg	rs757010965	missense variant	-	NC_000010.11:g.69232904G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly123Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69232905G>T	NCI-TCGA
HKDC1	Q2TB90	p.Thr124Ile	rs874556	missense variant	-	NC_000010.11:g.69232908C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr124Arg	rs874556	missense variant	-	NC_000010.11:g.69232908C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu125Gln	rs200060654	missense variant	-	NC_000010.11:g.69232910G>C	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Glu125Lys	rs200060654	missense variant	-	NC_000010.11:g.69232910G>A	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Glu128Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69233022A>T	NCI-TCGA
HKDC1	Q2TB90	p.Tyr129Cys	rs1434799267	missense variant	-	NC_000010.11:g.69233024A>G	gnomAD
HKDC1	Q2TB90	p.Tyr129His	rs1396449043	missense variant	-	NC_000010.11:g.69233023T>C	gnomAD
HKDC1	Q2TB90	p.Tyr129Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69233023T>G	NCI-TCGA
HKDC1	Q2TB90	p.Asp132Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69233032G>A	NCI-TCGA
HKDC1	Q2TB90	p.Cys133Ser	rs1373078597	missense variant	-	NC_000010.11:g.69233035T>A	gnomAD
HKDC1	Q2TB90	p.Ala135Ser	rs1299715766	missense variant	-	NC_000010.11:g.69233041G>T	TOPMed
HKDC1	Q2TB90	p.Asp136Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69233046T>A	NCI-TCGA
HKDC1	Q2TB90	p.Met138Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69233052G>A	NCI-TCGA
HKDC1	Q2TB90	p.Thr140Ile	rs775556630	missense variant	-	NC_000010.11:g.69233057C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Lys141Glu	rs374105773	missense variant	-	NC_000010.11:g.69233059A>G	ESP,ExAC,gnomAD
HKDC1	Q2TB90	p.Asp142Asn	rs555319606	missense variant	-	NC_000010.11:g.69233062G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp142Val	rs762825958	missense variant	-	NC_000010.11:g.69233063A>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp142Tyr	rs555319606	missense variant	-	NC_000010.11:g.69233062G>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys146Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69233076G>T	NCI-TCGA
HKDC1	Q2TB90	p.Leu148Phe	rs1310484467	missense variant	-	NC_000010.11:g.69233082G>T	gnomAD
HKDC1	Q2TB90	p.Leu148Ser	rs751406817	missense variant	-	NC_000010.11:g.69233081T>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu150Phe	rs1156694417	missense variant	-	NC_000010.11:g.69233086C>T	gnomAD
HKDC1	Q2TB90	p.Leu150Arg	rs1217900513	missense variant	-	NC_000010.11:g.69233087T>G	gnomAD
HKDC1	Q2TB90	p.Gly151Asp	rs1485429294	missense variant	-	NC_000010.11:g.69233090G>A	gnomAD
HKDC1	Q2TB90	p.Thr153Ser	rs754703913	missense variant	-	NC_000010.11:g.69233095A>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser155Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69233102C>A	NCI-TCGA
HKDC1	Q2TB90	p.Ser155Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69233102C>G	NCI-TCGA
HKDC1	Q2TB90	p.Phe156Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69233106C>A	NCI-TCGA
HKDC1	Q2TB90	p.Pro157Arg	rs1420316029	missense variant	-	NC_000010.11:g.69233108C>G	gnomAD
HKDC1	Q2TB90	p.Pro157Ser	COSM3439958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69233107C>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Cys158Arg	rs369090638	missense variant	-	NC_000010.11:g.69233110T>C	ESP
HKDC1	Q2TB90	p.Arg159Ter	rs755652822	stop gained	-	NC_000010.11:g.69233113C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg159Gln	rs1453501741	missense variant	-	NC_000010.11:g.69233114G>A	gnomAD
HKDC1	Q2TB90	p.Gln160His	rs1011566124	missense variant	-	NC_000010.11:g.69233118G>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys162Arg	rs1333488252	missense variant	-	NC_000010.11:g.69233123A>G	gnomAD
HKDC1	Q2TB90	p.Leu163Pro	rs777361977	missense variant	-	NC_000010.11:g.69233126T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu164Ter	rs1397126431	stop gained	-	NC_000010.11:g.69233128G>T	gnomAD
HKDC1	Q2TB90	p.Glu165Asp	rs142118901	missense variant	-	NC_000010.11:g.69233133G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu165Asp	rs142118901	missense variant	-	NC_000010.11:g.69233133G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu168Pro	rs780227986	missense variant	-	NC_000010.11:g.69239049T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser170Leu	rs747283338	missense variant	-	NC_000010.11:g.69239055C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser170Pro	rs1481769824	missense variant	-	NC_000010.11:g.69239054T>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser170Leu	rs747283338	missense variant	-	NC_000010.11:g.69239055C>T	NCI-TCGA,NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Thr172Ala	rs35542013	missense variant	-	NC_000010.11:g.69239060A>G	gnomAD
HKDC1	Q2TB90	p.Lys174Asn	rs776807836	missense variant	-	NC_000010.11:g.69239068G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Lys174Glu	rs1180230211	missense variant	-	NC_000010.11:g.69239066A>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys174Met	rs1163108685	missense variant	-	NC_000010.11:g.69239067A>T	gnomAD
HKDC1	Q2TB90	p.Phe175Leu	rs1427878837	missense variant	-	NC_000010.11:g.69239069T>C	TOPMed
HKDC1	Q2TB90	p.Phe175Leu	rs1003834962	missense variant	-	NC_000010.11:g.69239071T>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg178Gln	rs774349922	missense variant	-	NC_000010.11:g.69239079G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg178Ter	rs748281031	stop gained	-	NC_000010.11:g.69239078C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg178Gly	rs748281031	missense variant	-	NC_000010.11:g.69239078C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg178Ter	rs748281031	stop gained	-	NC_000010.11:g.69239078C>T	NCI-TCGA,NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Arg178Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69239079G>T	NCI-TCGA
HKDC1	Q2TB90	p.Arg178Gln	rs774349922	missense variant	-	NC_000010.11:g.69239079G>A	NCI-TCGA
HKDC1	Q2TB90	p.Val180Leu	rs1427850994	missense variant	-	NC_000010.11:g.69239084G>C	gnomAD
HKDC1	Q2TB90	p.Gln181Arg	rs1031165897	missense variant	-	NC_000010.11:g.69239088A>G	TOPMed
HKDC1	Q2TB90	p.Gln181Glu	rs759332556	missense variant	-	NC_000010.11:g.69239087C>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Asp182His	rs775110223	missense variant	-	NC_000010.11:g.69239090G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp182Gly	rs1282271335	missense variant	-	NC_000010.11:g.69239091A>G	gnomAD
HKDC1	Q2TB90	p.Asp182Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69239091A>C	NCI-TCGA
HKDC1	Q2TB90	p.Thr183Met	rs776156547	missense variant	-	NC_000010.11:g.69239094C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp184Tyr	rs537673064	missense variant	-	NC_000010.11:g.69239096G>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp184Asn	COSM3867669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69239096G>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Val186Ala	rs1250202846	missense variant	-	NC_000010.11:g.69239103T>C	TOPMed
HKDC1	Q2TB90	p.Ser187Gly	rs1227728216	missense variant	-	NC_000010.11:g.69239105A>G	TOPMed
HKDC1	Q2TB90	p.Arg188Cys	rs200176844	missense variant	-	NC_000010.11:g.69239108C>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg188Leu	rs764588181	missense variant	-	NC_000010.11:g.69239109G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg188Ser	rs200176844	missense variant	-	NC_000010.11:g.69239108C>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg188His	rs764588181	missense variant	-	NC_000010.11:g.69239109G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys191Glu	rs142842640	missense variant	-	NC_000010.11:g.69239117A>G	ESP,ExAC,TOPMed
HKDC1	Q2TB90	p.Arg194Gly	rs1486318032	missense variant	-	NC_000010.11:g.69239126A>G	gnomAD
HKDC1	Q2TB90	p.Arg195Ile	rs1187431635	missense variant	-	NC_000010.11:g.69239130G>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg195Ser	rs372325309	missense variant	-	NC_000010.11:g.69239131A>T	ESP,gnomAD
HKDC1	Q2TB90	p.Arg195Ser	rs372325309	missense variant	-	NC_000010.11:g.69239131A>C	ESP,gnomAD
HKDC1	Q2TB90	p.Arg195Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69239130G>A	NCI-TCGA
HKDC1	Q2TB90	p.His196Gln	rs200815826	missense variant	-	NC_000010.11:g.69239134C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.His196Gln	rs200815826	missense variant	-	NC_000010.11:g.69239134C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.His196Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69239132C>T	NCI-TCGA
HKDC1	Q2TB90	p.Lys197Asn	rs755319669	missense variant	-	NC_000010.11:g.69239137G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Met199Thr	rs1282133173	missense variant	-	NC_000010.11:g.69240656T>C	TOPMed
HKDC1	Q2TB90	p.Met199Val	rs1345430186	missense variant	-	NC_000010.11:g.69240655A>G	TOPMed
HKDC1	Q2TB90	p.Met199Thr	rs1282133173	missense variant	-	NC_000010.11:g.69240656T>C	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Val201Met	rs150616036	missense variant	-	NC_000010.11:g.69240661G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp202Asn	rs771030979	missense variant	-	NC_000010.11:g.69240664G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile203Leu	rs1451112333	missense variant	-	NC_000010.11:g.69240667A>C	gnomAD
HKDC1	Q2TB90	p.Leu204Pro	rs7899445	missense variant	-	NC_000010.11:g.69240671T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala205Val	rs746881511	missense variant	-	NC_000010.11:g.69240674C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Ala205Ser	COSM6130122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69240673G>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Leu206Met	rs768588334	missense variant	-	NC_000010.11:g.69240676C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Val207Asp	rs761666866	missense variant	-	NC_000010.11:g.69240680T>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asn208Ser	rs772902487	missense variant	-	NC_000010.11:g.69240683A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Thr210Ser	rs762433175	missense variant	-	NC_000010.11:g.69240689C>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Val211Met	rs146839444	missense variant	-	NC_000010.11:g.69240691G>A	ESP,ExAC,TOPMed
HKDC1	Q2TB90	p.Gly212Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69240695G>A	NCI-TCGA
HKDC1	Q2TB90	p.Cys217Tyr	rs140306975	missense variant	-	NC_000010.11:g.69240710G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys217Ser	rs140306975	missense variant	-	NC_000010.11:g.69240710G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala218Val	rs1231177784	missense variant	-	NC_000010.11:g.69240713C>T	TOPMed
HKDC1	Q2TB90	p.Tyr219Cys	rs369442663	missense variant	-	NC_000010.11:g.69240716A>G	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp220Glu	rs756481700	missense variant	-	NC_000010.11:g.69240720C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp221Glu	rs1478984635	missense variant	-	NC_000010.11:g.69240723C>A	gnomAD
HKDC1	Q2TB90	p.Asp221Asn	rs764281687	missense variant	-	NC_000010.11:g.69240721G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp221Asn	rs764281687	missense variant	-	NC_000010.11:g.69240721G>A	NCI-TCGA,NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Pro222Ser	rs754086568	missense variant	-	NC_000010.11:g.69240724C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Pro222Thr	rs754086568	missense variant	-	NC_000010.11:g.69240724C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Pro222Leu	rs1208260783	missense variant	-	NC_000010.11:g.69240725C>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys224Arg	rs1252801346	missense variant	-	NC_000010.11:g.69240730T>C	gnomAD
HKDC1	Q2TB90	p.Cys224Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.69240732C>A	NCI-TCGA
HKDC1	Q2TB90	p.Glu225Lys	rs779081625	missense variant	-	NC_000010.11:g.69240733G>A	NCI-TCGA,NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Glu225Lys	rs779081625	missense variant	-	NC_000010.11:g.69240733G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly227Val	rs746967718	missense variant	-	NC_000010.11:g.69240740G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly227Asp	rs746967718	missense variant	-	NC_000010.11:g.69240740G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile229Thr	rs146469853	missense variant	-	NC_000010.11:g.69240746T>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile229Val	rs781250486	missense variant	-	NC_000010.11:g.69240745A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly231Glu	rs1348840713	missense variant	-	NC_000010.11:g.69243182G>A	TOPMed
HKDC1	Q2TB90	p.Gly231Arg	rs1169258508	missense variant	-	NC_000010.11:g.69240751G>A	gnomAD
HKDC1	Q2TB90	p.Thr232Ile	rs762456244	missense variant	-	NC_000010.11:g.69243185C>T	gnomAD
HKDC1	Q2TB90	p.Gly233Asp	COSM3790906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69243188G>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Thr234Ile	rs755874155	missense variant	-	NC_000010.11:g.69243191C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr234Ala	rs1365099509	missense variant	-	NC_000010.11:g.69243190A>G	gnomAD
HKDC1	Q2TB90	p.Thr234Ser	rs755874155	missense variant	-	NC_000010.11:g.69243191C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala236Val	rs149059487	missense variant	-	NC_000010.11:g.69243197C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala236Glu	rs149059487	missense variant	-	NC_000010.11:g.69243197C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Met239Arg	rs1374968789	missense variant	-	NC_000010.11:g.69243206T>G	TOPMed
HKDC1	Q2TB90	p.Glu240Asp	COSM3807554	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69243210G>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Asp241Ala	rs745440824	missense variant	-	NC_000010.11:g.69243212A>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Asp241Asn	rs773971814	missense variant	-	NC_000010.11:g.69243211G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Met242Ile	rs761189703	missense variant	-	NC_000010.11:g.69243216G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Met242Leu	rs771567736	missense variant	-	NC_000010.11:g.69243214A>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Met242Val	rs771567736	missense variant	-	NC_000010.11:g.69243214A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Ser243Gly	rs768927190	missense variant	-	NC_000010.11:g.69243217A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Asn244Asp	rs777018497	missense variant	-	NC_000010.11:g.69243220A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp246Asn	rs377243106	missense variant	-	NC_000010.11:g.69243226G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu247Val	rs750665250	missense variant	-	NC_000010.11:g.69243229C>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu247Met	rs750665250	missense variant	-	NC_000010.11:g.69243229C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Val248Met	rs1012977794	missense variant	-	NC_000010.11:g.69243232G>A	TOPMed
HKDC1	Q2TB90	p.Asp251Asn	rs140372000	missense variant	-	NC_000010.11:g.69243241G>A	ESP,ExAC,TOPMed
HKDC1	Q2TB90	p.Glu252Ala	rs545087108	missense variant	-	NC_000010.11:g.69243245A>C	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Glu252Gly	rs545087108	missense variant	-	NC_000010.11:g.69243245A>G	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Glu252Gln	rs138980146	missense variant	-	NC_000010.11:g.69243244G>C	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu252Lys	rs138980146	missense variant	-	NC_000010.11:g.69243244G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asn258Ser	rs757034092	missense variant	-	NC_000010.11:g.69243263A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Thr259Arg	rs778603677	missense variant	-	NC_000010.11:g.69243266C>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Trp261Leu	rs771587834	missense variant	-	NC_000010.11:g.69243272G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Trp261Ser	rs771587834	missense variant	-	NC_000010.11:g.69243272G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Trp261Ter	rs771587834	stop gained	-	NC_000010.11:g.69243272G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala263Asp	rs1259883986	missense variant	-	NC_000010.11:g.69243278C>A	TOPMed
HKDC1	Q2TB90	p.Ala263ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.69243272G>-	NCI-TCGA
HKDC1	Q2TB90	p.Phe264Ser	rs1214057381	missense variant	-	NC_000010.11:g.69243281T>C	gnomAD
HKDC1	Q2TB90	p.Phe264Leu	rs769249790	missense variant	-	NC_000010.11:g.69243280T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly265Arg	rs1056958695	missense variant	-	NC_000010.11:g.69243283G>A	TOPMed
HKDC1	Q2TB90	p.Asp266His	rs770214158	missense variant	-	NC_000010.11:g.69243286G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Asp267Asn	rs372652067	missense variant	-	NC_000010.11:g.69243289G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp267Glu	rs766398895	missense variant	-	NC_000010.11:g.69243291C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp267Tyr	rs372652067	missense variant	-	NC_000010.11:g.69243289G>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly268Arg	rs751701291	missense variant	-	NC_000010.11:g.69243292G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly268Arg	rs751701291	missense variant	-	NC_000010.11:g.69243292G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly268Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69243293G>C	NCI-TCGA
HKDC1	Q2TB90	p.Ala269Thr	rs1384018429	missense variant	-	NC_000010.11:g.69243295G>A	TOPMed
HKDC1	Q2TB90	p.Ala269Val	rs1393095357	missense variant	-	NC_000010.11:g.69243296C>T	gnomAD
HKDC1	Q2TB90	p.Leu270Pro	rs753715247	missense variant	-	NC_000010.11:g.69243299T>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu270Met	COSM4015349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69243298C>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Asp272Gly	rs757052108	missense variant	-	NC_000010.11:g.69243305A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile273Val	rs377063347	missense variant	-	NC_000010.11:g.69243307A>G	ESP,ExAC,TOPMed
HKDC1	Q2TB90	p.Ile273Leu	rs377063347	missense variant	-	NC_000010.11:g.69243307A>C	ESP,ExAC,TOPMed
HKDC1	Q2TB90	p.Arg274Cys	rs143670175	missense variant	-	NC_000010.11:g.69243310C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg274Leu	rs779545610	missense variant	-	NC_000010.11:g.69243311G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg274His	rs779545610	missense variant	-	NC_000010.11:g.69243311G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg274Ser	rs143670175	missense variant	-	NC_000010.11:g.69243310C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr275Asn	rs768044122	missense variant	-	NC_000010.11:g.69243314C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Thr275Ile	rs768044122	missense variant	-	NC_000010.11:g.69243314C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Phe277Leu	rs1220348053	missense variant	-	NC_000010.11:g.69243319T>C	gnomAD
HKDC1	Q2TB90	p.Asp278His	rs748606620	missense variant	-	NC_000010.11:g.69243322G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp278Asn	rs748606620	missense variant	-	NC_000010.11:g.69243322G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp282Tyr	rs1262930437	missense variant	-	NC_000010.11:g.69243334G>T	TOPMed
HKDC1	Q2TB90	p.Leu283Phe	rs770301912	missense variant	-	NC_000010.11:g.69243337C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly284Ser	rs202105296	missense variant	-	NC_000010.11:g.69243340G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly284Ser	RCV000491251	missense variant	Keratoconus 1 (KTCN1)	NC_000010.11:g.69243340G>A	ClinVar
HKDC1	Q2TB90	p.Asn287Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69243349A>G	NCI-TCGA
HKDC1	Q2TB90	p.Pro288Ala	rs532821391	missense variant	-	NC_000010.11:g.69243352C>G	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Lys290Glu	rs746421239	missense variant	-	NC_000010.11:g.69243358A>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Phe293Leu	rs369488494	missense variant	-	NC_000010.11:g.69246080T>C	TOPMed
HKDC1	Q2TB90	p.Glu294Lys	rs749727150	missense variant	-	NC_000010.11:g.69246083G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Lys295Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69246088G>C	NCI-TCGA
HKDC1	Q2TB90	p.Met296Ile	rs149591258	missense variant	-	NC_000010.11:g.69246091G>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser298Gly	rs774637759	missense variant	-	NC_000010.11:g.69246095A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu300Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69246101C>A	NCI-TCGA
HKDC1	Q2TB90	p.Tyr301His	rs763033929	missense variant	-	NC_000010.11:g.69246104T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu304Gln	rs1389665361	missense variant	-	NC_000010.11:g.69246113G>C	gnomAD
HKDC1	Q2TB90	p.Glu304Lys	rs1389665361	missense variant	-	NC_000010.11:g.69246113G>A	gnomAD
HKDC1	Q2TB90	p.Val306Phe	rs1174261944	missense variant	-	NC_000010.11:g.69246119G>T	gnomAD
HKDC1	Q2TB90	p.Met313Thr	rs1311167065	missense variant	-	NC_000010.11:g.69246141T>C	TOPMed
HKDC1	Q2TB90	p.Lys315Asn	rs374482574	missense variant	-	NC_000010.11:g.69246148G>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu318Pro	rs1390540641	missense variant	-	NC_000010.11:g.69246156T>C	gnomAD
HKDC1	Q2TB90	p.Leu319Arg	rs765211552	missense variant	-	NC_000010.11:g.69246159T>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly321Cys	rs368695945	missense variant	-	NC_000010.11:g.69246164G>T	ESP,TOPMed
HKDC1	Q2TB90	p.Gly322Asp	rs1375213775	missense variant	-	NC_000010.11:g.69246168G>A	TOPMed
HKDC1	Q2TB90	p.Ser326Pro	rs773123328	missense variant	-	NC_000010.11:g.69246179T>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Ala327Val	rs574025853	missense variant	-	NC_000010.11:g.69246183C>T	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Lys331Gln	rs371609931	missense variant	-	NC_000010.11:g.69246194A>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly332Asp	rs1447178533	missense variant	-	NC_000010.11:g.69246198G>A	TOPMed
HKDC1	Q2TB90	p.Lys333Glu	rs1331619768	missense variant	-	NC_000010.11:g.69246200A>G	gnomAD
HKDC1	Q2TB90	p.Lys333Gln	rs1331619768	missense variant	-	NC_000010.11:g.69246200A>C	gnomAD
HKDC1	Q2TB90	p.Ile334Asn	rs796052175	missense variant	-	NC_000010.11:g.69246204T>A	-
HKDC1	Q2TB90	p.Ile334Met	rs144214911	missense variant	-	NC_000010.11:g.69246205C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile334Asn	RCV000190179	missense variant	Long QT syndrome (LQTS)	NC_000010.11:g.69246204T>A	ClinVar
HKDC1	Q2TB90	p.Glu335Lys	rs767245818	missense variant	-	NC_000010.11:g.69246206G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg337Trp	rs148723879	missense variant	-	NC_000010.11:g.69246212C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg337Trp	RCV000736153	missense variant	-	NC_000010.11:g.69246212C>T	ClinVar
HKDC1	Q2TB90	p.Arg337Gln	rs755672415	missense variant	-	NC_000010.11:g.69246213G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg337GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.69246211A>-	NCI-TCGA
HKDC1	Q2TB90	p.His338Arg	rs1477687662	missense variant	-	NC_000010.11:g.69246216A>G	gnomAD
HKDC1	Q2TB90	p.His338Asn	rs778490547	missense variant	-	NC_000010.11:g.69246215C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Val339Leu	rs373637440	missense variant	-	NC_000010.11:g.69246218G>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val339Met	rs373637440	missense variant	-	NC_000010.11:g.69246218G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala341Thr	rs746134263	missense variant	-	NC_000010.11:g.69246224G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Met342Leu	rs1421322369	missense variant	-	NC_000010.11:g.69246227A>C	TOPMed
HKDC1	Q2TB90	p.Glu343Asp	COSM919889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69246232G>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Lys344Asn	rs1318466746	missense variant	-	NC_000010.11:g.69247360G>T	TOPMed
HKDC1	Q2TB90	p.Tyr345Cys	rs780325598	missense variant	-	NC_000010.11:g.69247362A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu347Lys	rs768742191	missense variant	-	NC_000010.11:g.69247367G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly348Ser	rs368162432	missense variant	-	NC_000010.11:g.69247370G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly348Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69247371G>T	NCI-TCGA
HKDC1	Q2TB90	p.Asn351Asp	rs966963237	missense variant	-	NC_000010.11:g.69247379A>G	TOPMed
HKDC1	Q2TB90	p.Glu354Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.69247388G>T	NCI-TCGA
HKDC1	Q2TB90	p.Glu354Asp	COSM919890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69247390G>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Ile355Phe	rs1373020419	missense variant	-	NC_000010.11:g.69247391A>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Pro363Leu	rs200034765	missense variant	-	NC_000010.11:g.69247416C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Pro363Ser	rs1334323154	missense variant	-	NC_000010.11:g.69247415C>T	gnomAD
HKDC1	Q2TB90	p.Pro363Leu	RCV000736154	missense variant	-	NC_000010.11:g.69247416C>T	ClinVar
HKDC1	Q2TB90	p.Ser364Thr	rs1355730260	missense variant	-	NC_000010.11:g.69247418T>A	gnomAD
HKDC1	Q2TB90	p.Glu365Lys	COSM4911353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69247421G>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Asp367Asn	COSM4825408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69247427G>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Ile369Val	rs1049699696	missense variant	-	NC_000010.11:g.69247433A>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile369Phe	rs1049699696	missense variant	-	NC_000010.11:g.69247433A>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Val371Ile	rs760356131	missense variant	-	NC_000010.11:g.69247439G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val371Phe	rs760356131	missense variant	-	NC_000010.11:g.69247439G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.His373Tyr	rs1249387483	missense variant	-	NC_000010.11:g.69247445C>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.His373Gln	rs563041413	missense variant	-	NC_000010.11:g.69247447T>A	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.His373Arg	rs1260651206	missense variant	-	NC_000010.11:g.69247446A>G	TOPMed
HKDC1	Q2TB90	p.Ile377Val	rs753331440	missense variant	-	NC_000010.11:g.69247457A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val378Ile	rs952016916	missense variant	-	NC_000010.11:g.69247460G>A	gnomAD
HKDC1	Q2TB90	p.Arg381His	rs750940077	missense variant	-	NC_000010.11:g.69247470G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg381Pro	rs750940077	missense variant	-	NC_000010.11:g.69247470G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg381Cys	rs765726218	missense variant	-	NC_000010.11:g.69247469C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Ser382Leu	rs758771292	missense variant	-	NC_000010.11:g.69247473C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala383Thr	rs1335266496	missense variant	-	NC_000010.11:g.69247475G>A	gnomAD
HKDC1	Q2TB90	p.Ala383Val	rs751807486	missense variant	-	NC_000010.11:g.69247476C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Asn384Ser	rs755230182	missense variant	-	NC_000010.11:g.69247479A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu390Gln	rs1299963587	missense variant	-	NC_000010.11:g.69247497T>A	gnomAD
HKDC1	Q2TB90	p.Ala391Val	rs1342912409	missense variant	-	NC_000010.11:g.69247500C>T	gnomAD
HKDC1	Q2TB90	p.Arg396His	rs374002325	missense variant	-	NC_000010.11:g.69247515G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg396Cys	rs139689016	missense variant	-	NC_000010.11:g.69247514C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu397Phe	rs745760323	missense variant	-	NC_000010.11:g.69247517C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg398Gly	rs200584895	missense variant	-	NC_000010.11:g.69247520C>G	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg398Trp	rs200584895	missense variant	-	NC_000010.11:g.69247520C>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg398Pro	rs746771373	missense variant	-	NC_000010.11:g.69247521G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg398Gln	rs746771373	missense variant	-	NC_000010.11:g.69247521G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys401Arg	rs1161728549	missense variant	-	NC_000010.11:g.69247530A>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys401Asn	rs144349538	missense variant	-	NC_000010.11:g.69247531G>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu404Gly	rs761300598	missense variant	-	NC_000010.11:g.69247539A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg405Gly	rs764742218	missense variant	-	NC_000010.11:g.69247541C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg405Gln	rs1429930647	missense variant	-	NC_000010.11:g.69247542G>A	TOPMed
HKDC1	Q2TB90	p.Arg405Trp	rs764742218	missense variant	-	NC_000010.11:g.69247541C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg407Trp	rs201086271	missense variant	-	NC_000010.11:g.69247547C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg407Gln	rs199822492	missense variant	-	NC_000010.11:g.69247548G>A	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Arg407Gly	rs201086271	missense variant	-	NC_000010.11:g.69247547C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg407Leu	rs199822492	missense variant	-	NC_000010.11:g.69247548G>T	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Val410Glu	rs1377304259	missense variant	-	NC_000010.11:g.69247557T>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly411Val	rs756161477	missense variant	-	NC_000010.11:g.69247560G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly411Cys	rs1307705503	missense variant	-	NC_000010.11:g.69247559G>T	gnomAD
HKDC1	Q2TB90	p.Met412Thr	rs1313941504	missense variant	-	NC_000010.11:g.69247563T>C	gnomAD
HKDC1	Q2TB90	p.Gly414Ser	rs745832289	missense variant	-	NC_000010.11:g.69247568G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly414Asp	rs758451752	missense variant	-	NC_000010.11:g.69247569G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Thr415Ile	rs1248185050	missense variant	-	NC_000010.11:g.69247572C>T	gnomAD
HKDC1	Q2TB90	p.Leu416Phe	rs1186186491	missense variant	-	NC_000010.11:g.69247574C>T	gnomAD
HKDC1	Q2TB90	p.Lys418Gln	rs1251972733	missense variant	-	NC_000010.11:g.69247580A>C	TOPMed
HKDC1	Q2TB90	p.Ile419Val	rs1229653624	missense variant	-	NC_000010.11:g.69247583A>G	TOPMed
HKDC1	Q2TB90	p.Ile419Thr	rs768497397	missense variant	-	NC_000010.11:g.69247584T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.His420Tyr	rs201518882	missense variant	-	NC_000010.11:g.69247586C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.His420Gln	rs375906723	missense variant	-	NC_000010.11:g.69247588C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.His420Tyr	RCV000755127	missense variant	Nonsyndromic cleft lip palate	NC_000010.11:g.69247586C>T	ClinVar
HKDC1	Q2TB90	p.Gln422Glu	rs769215392	missense variant	-	NC_000010.11:g.69247592C>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Gln422Arg	rs1347768559	missense variant	-	NC_000010.11:g.69247593A>G	TOPMed
HKDC1	Q2TB90	p.Arg426His	rs541792195	missense variant	-	NC_000010.11:g.69248435G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg426Cys	rs148832840	missense variant	-	NC_000010.11:g.69248434C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg426Leu	rs541792195	missense variant	-	NC_000010.11:g.69248435G>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys429Gln	rs1321797206	missense variant	-	NC_000010.11:g.69248443A>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys429Glu	rs1321797206	missense variant	-	NC_000010.11:g.69248443A>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys429Asn	rs1220274415	missense variant	-	NC_000010.11:g.69248445G>T	gnomAD
HKDC1	Q2TB90	p.Val431Met	rs764387778	missense variant	-	NC_000010.11:g.69248449G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Val435Phe	rs1490017420	missense variant	-	NC_000010.11:g.69248461G>T	gnomAD
HKDC1	Q2TB90	p.Ser437Thr	rs1207885136	missense variant	-	NC_000010.11:g.69248468G>C	gnomAD
HKDC1	Q2TB90	p.Asp439Val	rs370651048	missense variant	-	NC_000010.11:g.69248474A>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val440Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69248477T>A	NCI-TCGA
HKDC1	Q2TB90	p.Val440ProPheSerTerUnkUnk	COSM68988	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.69248475_69248485TGTCCGCTTCC>-	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Arg441Leu	rs1053421576	missense variant	-	NC_000010.11:g.69248480G>T	TOPMed
HKDC1	Q2TB90	p.Arg441Cys	rs202161330	missense variant	-	NC_000010.11:g.69248479C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg441His	rs1053421576	missense variant	-	NC_000010.11:g.69248480G>A	TOPMed
HKDC1	Q2TB90	p.Leu443Phe	rs1416151561	missense variant	-	NC_000010.11:g.69248485C>T	gnomAD
HKDC1	Q2TB90	p.Ser445Leu	rs1163059706	missense variant	-	NC_000010.11:g.69248492C>T	gnomAD
HKDC1	Q2TB90	p.Glu446Gly	rs751592107	missense variant	-	NC_000010.11:g.69248495A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu446Gln	rs61756700	missense variant	-	NC_000010.11:g.69248494G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu446Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69248494G>A	NCI-TCGA
HKDC1	Q2TB90	p.Ser447Asn	rs539551107	missense variant	-	NC_000010.11:g.69248498G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser449Asn	rs754978096	missense variant	-	NC_000010.11:g.69248504G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr450Ser	rs1304364228	missense variant	-	NC_000010.11:g.69248507C>G	gnomAD
HKDC1	Q2TB90	p.Lys451Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69248510A>C	NCI-TCGA
HKDC1	Q2TB90	p.Gly452Arg	rs1039928352	missense variant	-	NC_000010.11:g.69248512G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly452Glu	rs563834781	missense variant	-	NC_000010.11:g.69248513G>A	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Ala454Thr	rs1437619948	missense variant	-	NC_000010.11:g.69248518G>A	gnomAD
HKDC1	Q2TB90	p.Met455Ile	rs1483722665	missense variant	-	NC_000010.11:g.69248523G>A	gnomAD
HKDC1	Q2TB90	p.Thr457Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69248528C>T	NCI-TCGA
HKDC1	Q2TB90	p.Thr457Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69248528C>A	NCI-TCGA
HKDC1	Q2TB90	p.Ala458Thr	rs552439176	missense variant	-	NC_000010.11:g.69248530G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala458Val	rs745328910	missense variant	-	NC_000010.11:g.69248531C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala458Glu	rs745328910	missense variant	-	NC_000010.11:g.69248531C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala458Ser	rs552439176	missense variant	-	NC_000010.11:g.69248530G>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg462His	rs371090137	missense variant	-	NC_000010.11:g.69248543G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg462Cys	rs1039209123	missense variant	-	NC_000010.11:g.69248542C>T	TOPMed
HKDC1	Q2TB90	p.Arg462Pro	rs371090137	missense variant	-	NC_000010.11:g.69248543G>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val463Met	rs762100434	missense variant	-	NC_000010.11:g.69248545G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gln464Leu	rs765520015	missense variant	-	NC_000010.11:g.69248549A>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg467Gln	rs267602560	missense variant	-	NC_000010.11:g.69248558G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg467Trp	rs375666863	missense variant	-	NC_000010.11:g.69248557C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys468Glu	rs200770622	missense variant	-	NC_000010.11:g.69248560A>G	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gln469Glu	rs763854751	missense variant	-	NC_000010.11:g.69248563C>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile470Phe	rs753529321	missense variant	-	NC_000010.11:g.69248566A>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile470Thr	rs756934111	missense variant	-	NC_000010.11:g.69248567T>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile470Val	rs753529321	missense variant	-	NC_000010.11:g.69248566A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile470Met	rs778487213	missense variant	-	NC_000010.11:g.69248568C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp471Asn	rs375135631	missense variant	-	NC_000010.11:g.69248569G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp471His	rs375135631	missense variant	-	NC_000010.11:g.69248569G>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg472Lys	COSM3790907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69248573G>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Val473Met	rs1189368952	missense variant	-	NC_000010.11:g.69248575G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Val473Leu	rs1189368952	missense variant	-	NC_000010.11:g.69248575G>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Val473Gly	rs780674828	missense variant	-	NC_000010.11:g.69248576T>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu476Val	rs1474413529	missense variant	-	NC_000010.11:g.69248584T>G	gnomAD
HKDC1	Q2TB90	p.Thr480Ile	rs769189242	missense variant	-	NC_000010.11:g.69248597C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg481Gln	rs765701295	missense variant	-	NC_000010.11:g.69248600G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg481Ter	rs1043037706	stop gained	-	NC_000010.11:g.69248599C>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg481Gly	rs1043037706	missense variant	-	NC_000010.11:g.69248599C>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu482Asp	rs1317086270	missense variant	-	NC_000010.11:g.69248604G>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Gln483Leu	rs368039982	missense variant	-	NC_000010.11:g.69248606A>T	ESP,ExAC,gnomAD
HKDC1	Q2TB90	p.Val485Leu	rs773242941	missense variant	-	NC_000010.11:g.69248611G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val485Met	rs773242941	missense variant	-	NC_000010.11:g.69248611G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val485Glu	rs763161756	missense variant	-	NC_000010.11:g.69248612T>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Val487Met	rs534744139	missense variant	-	NC_000010.11:g.69248617G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gln488Glu	rs139514075	missense variant	-	NC_000010.11:g.69248620C>G	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Gln488Arg	rs201031526	missense variant	-	NC_000010.11:g.69248621A>G	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Ala489Thr	rs753655337	missense variant	-	NC_000010.11:g.69248623G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Ala489Val	rs1445312180	missense variant	-	NC_000010.11:g.69248624C>T	gnomAD
HKDC1	Q2TB90	p.Lys490Asn	rs1223675914	missense variant	-	NC_000010.11:g.69248628G>T	gnomAD
HKDC1	Q2TB90	p.Lys490Thr	rs756987165	missense variant	-	NC_000010.11:g.69248627A>C	ExAC
HKDC1	Q2TB90	p.Met491Val	rs1460166946	missense variant	-	NC_000010.11:g.69248629A>G	TOPMed
HKDC1	Q2TB90	p.Met491Lys	rs764872830	missense variant	-	NC_000010.11:g.69248630T>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg492Trp	rs377028089	missense variant	-	NC_000010.11:g.69248632C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg492Gln	rs200556069	missense variant	-	NC_000010.11:g.69248633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg492Leu	rs200556069	missense variant	-	NC_000010.11:g.69248633G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala493Thr	rs1413880135	missense variant	-	NC_000010.11:g.69248635G>A	gnomAD
HKDC1	Q2TB90	p.Glu494Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69248638G>A	NCI-TCGA
HKDC1	Q2TB90	p.Glu496Gly	COSM1470408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69248645A>G	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Tyr497Cys	rs372262791	missense variant	-	NC_000010.11:g.69248648A>G	ESP,ExAC,gnomAD
HKDC1	Q2TB90	p.Gly498Arg	rs1238974356	missense variant	-	NC_000010.11:g.69248650G>C	TOPMed
HKDC1	Q2TB90	p.Lys500Glu	rs147653919	missense variant	-	NC_000010.11:g.69248656A>G	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys501Ter	rs1380176374	stop gained	-	NC_000010.11:g.69248659A>T	TOPMed
HKDC1	Q2TB90	p.Ser503Ile	rs1333095784	missense variant	-	NC_000010.11:g.69248666G>T	TOPMed
HKDC1	Q2TB90	p.Gly505Arg	rs376743885	missense variant	-	NC_000010.11:g.69248671G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr508Lys	rs773543962	missense variant	-	NC_000010.11:g.69248681C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr508Met	rs773543962	missense variant	-	NC_000010.11:g.69248681C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val509Phe	rs1240067496	missense variant	-	NC_000010.11:g.69248683G>T	gnomAD
HKDC1	Q2TB90	p.Met511Ile	rs1348643926	missense variant	-	NC_000010.11:g.69248691G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu512Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69248693T>G	NCI-TCGA
HKDC1	Q2TB90	p.Pro513Arg	rs1490181470	missense variant	-	NC_000010.11:g.69248696C>G	gnomAD
HKDC1	Q2TB90	p.Tyr515His	rs759564040	missense variant	-	NC_000010.11:g.69248701T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val516Ile	rs776482675	missense variant	-	NC_000010.11:g.69248704G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val516Leu	rs776482675	missense variant	-	NC_000010.11:g.69248704G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys517Ser	rs1180665277	missense variant	-	NC_000010.11:g.69248708G>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys517Ter	rs372981911	stop gained	-	NC_000010.11:g.69248709C>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys517Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69248708G>T	NCI-TCGA
HKDC1	Q2TB90	p.Gly518Trp	rs764925231	missense variant	-	NC_000010.11:g.69248710G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly518Arg	rs764925231	missense variant	-	NC_000010.11:g.69248710G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly518Arg	rs764925231	missense variant	-	NC_000010.11:g.69248710G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu519Met	rs750136322	missense variant	-	NC_000010.11:g.69248713C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Pro520Leu	rs376726432	missense variant	-	NC_000010.11:g.69248717C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp521Glu	rs754473777	missense variant	-	NC_000010.11:g.69248721C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp521Glu	rs754473777	missense variant	-	NC_000010.11:g.69248721C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly522Val	rs1392267673	missense variant	-	NC_000010.11:g.69248723G>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly522Ala	rs1392267673	missense variant	-	NC_000010.11:g.69248723G>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly522Ser	rs752071876	missense variant	-	NC_000010.11:g.69248722G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr523Ala	rs1328583896	missense variant	-	NC_000010.11:g.69248725A>G	gnomAD
HKDC1	Q2TB90	p.Gly526Arg	rs779068295	missense variant	-	NC_000010.11:g.69250295G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly526Ter	rs779068295	stop gained	-	NC_000010.11:g.69250295G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly526Val	rs746074967	missense variant	-	NC_000010.11:g.69250296G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly526Glu	COSM1702584	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69250296G>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Lys527Asn	rs780073962	missense variant	-	NC_000010.11:g.69250300G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys527Met	rs772185046	missense variant	-	NC_000010.11:g.69250299A>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Phe528Leu	rs1385699916	missense variant	-	NC_000010.11:g.69250303T>A	gnomAD
HKDC1	Q2TB90	p.Phe528Ser	rs747047588	missense variant	-	NC_000010.11:g.69250302T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala530Val	rs762726993	missense variant	-	NC_000010.11:g.69250308C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Ala530Thr	rs148336562	missense variant	-	NC_000010.11:g.69250307G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp532Asn	rs560169262	missense variant	-	NC_000010.11:g.69250313G>A	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Leu533Phe	COSM4391559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69250316C>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Gly535Arg	rs1321017840	missense variant	-	NC_000010.11:g.69250322G>A	gnomAD
HKDC1	Q2TB90	p.Gly535Glu	rs138845753	missense variant	-	NC_000010.11:g.69250323G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly535Val	rs138845753	missense variant	-	NC_000010.11:g.69250323G>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr536Ile	rs1260839996	missense variant	-	NC_000010.11:g.69250326C>T	gnomAD
HKDC1	Q2TB90	p.Phe538Ile	rs1485224175	missense variant	-	NC_000010.11:g.69250331T>A	gnomAD
HKDC1	Q2TB90	p.Arg539Trp	rs370167561	missense variant	-	NC_000010.11:g.69250334C>T	ESP,ExAC,gnomAD
HKDC1	Q2TB90	p.Arg539Gln	rs767239363	missense variant	-	NC_000010.11:g.69250335G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val543Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69250347T>G	NCI-TCGA
HKDC1	Q2TB90	p.Lys544Arg	rs141879185	missense variant	-	NC_000010.11:g.69250350A>G	ESP,gnomAD
HKDC1	Q2TB90	p.Ile545Met	rs1349588624	missense variant	-	NC_000010.11:g.69250354C>G	TOPMed
HKDC1	Q2TB90	p.Arg546Ser	rs1479592624	missense variant	-	NC_000010.11:g.69250357A>C	gnomAD
HKDC1	Q2TB90	p.Ser547Gly	rs529122720	missense variant	-	NC_000010.11:g.69250358A>G	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Ser547Asn	rs1345864786	missense variant	-	NC_000010.11:g.69250359G>A	gnomAD
HKDC1	Q2TB90	p.Arg549Gln	rs764512946	missense variant	-	NC_000010.11:g.69250365G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg549Leu	rs764512946	missense variant	-	NC_000010.11:g.69250365G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg549Trp	rs746802271	missense variant	-	NC_000010.11:g.69250364C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Ser551Ala	rs1405447795	missense variant	-	NC_000010.11:g.69250370T>G	gnomAD
HKDC1	Q2TB90	p.Val552Met	rs765561288	missense variant	-	NC_000010.11:g.69250373G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Val552Glu	rs1292401204	missense variant	-	NC_000010.11:g.69250374T>A	TOPMed
HKDC1	Q2TB90	p.Arg553Gly	rs200078170	missense variant	-	NC_000010.11:g.69250376C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg553Gln	rs200643468	missense variant	-	NC_000010.11:g.69250377G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg553Ter	rs200078170	stop gained	-	NC_000010.11:g.69250376C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Met554Thr	rs1307197415	missense variant	-	NC_000010.11:g.69250380T>C	gnomAD
HKDC1	Q2TB90	p.Met554Ile	rs1381721567	missense variant	-	NC_000010.11:g.69250381G>A	TOPMed
HKDC1	Q2TB90	p.Met554Val	rs1296462114	missense variant	-	NC_000010.11:g.69250379A>G	TOPMed
HKDC1	Q2TB90	p.Tyr555His	rs1386027991	missense variant	-	NC_000010.11:g.69250382T>C	TOPMed
HKDC1	Q2TB90	p.Lys557Asn	rs747067339	missense variant	-	NC_000010.11:g.69250390G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile558Val	rs755086158	missense variant	-	NC_000010.11:g.69250391A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala560Ser	rs150227380	missense variant	-	NC_000010.11:g.69250397G>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala560Val	rs1489942505	missense variant	-	NC_000010.11:g.69250398C>T	gnomAD
HKDC1	Q2TB90	p.Ala560Thr	rs150227380	missense variant	-	NC_000010.11:g.69250397G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala560Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69250398C>A	NCI-TCGA
HKDC1	Q2TB90	p.Pro562Leu	rs1418714598	missense variant	-	NC_000010.11:g.69250404C>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Pro562Arg	rs1418714598	missense variant	-	NC_000010.11:g.69250404C>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu563Pro	rs771865443	missense variant	-	NC_000010.11:g.69250407T>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu563Met	rs374796484	missense variant	-	NC_000010.11:g.69250406C>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu564Lys	rs760168887	missense variant	-	NC_000010.11:g.69250409G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu564Ala	rs763645384	missense variant	-	NC_000010.11:g.69250410A>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Met566Leu	rs1372210240	missense variant	-	NC_000010.11:g.69250415A>C	gnomAD
HKDC1	Q2TB90	p.Met566Ile	rs1035579504	missense variant	-	NC_000010.11:g.69250417G>T	TOPMed
HKDC1	Q2TB90	p.Met566Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69250417G>A	NCI-TCGA
HKDC1	Q2TB90	p.Gln567Ter	rs1389301509	stop gained	-	NC_000010.11:g.69250418C>T	gnomAD
HKDC1	Q2TB90	p.Gly568Asp	rs777052195	missense variant	-	NC_000010.11:g.69250422G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly568Arg	rs1353757828	missense variant	-	NC_000010.11:g.69250421G>C	TOPMed
HKDC1	Q2TB90	p.Thr569Ala	rs1247351716	missense variant	-	NC_000010.11:g.69250424A>G	gnomAD
HKDC1	Q2TB90	p.Gly570Asp	rs370637464	missense variant	-	NC_000010.11:g.69250428G>A	ESP,ExAC,gnomAD
HKDC1	Q2TB90	p.Leu573His	rs1476365580	missense variant	-	NC_000010.11:g.69250534T>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu573Phe	rs1241335196	missense variant	-	NC_000010.11:g.69250533C>T	gnomAD
HKDC1	Q2TB90	p.Leu573Pro	rs1476365580	missense variant	-	NC_000010.11:g.69250534T>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp575Asn	rs1179731003	missense variant	-	NC_000010.11:g.69250539G>A	gnomAD
HKDC1	Q2TB90	p.Asp575Gly	rs756197277	missense variant	-	NC_000010.11:g.69250540A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp575His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69250539G>C	NCI-TCGA
HKDC1	Q2TB90	p.His576Asp	rs779060687	missense variant	-	NC_000010.11:g.69250542C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.His576Tyr	rs779060687	missense variant	-	NC_000010.11:g.69250542C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile577Leu	rs78616372	missense variant	-	NC_000010.11:g.69250545A>C	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val578Met	rs779866372	missense variant	-	NC_000010.11:g.69250548G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Cys580Tyr	rs746738258	missense variant	-	NC_000010.11:g.69250555G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Ala582Thr	rs780647583	missense variant	-	NC_000010.11:g.69250560G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala582Ser	rs780647583	missense variant	-	NC_000010.11:g.69250560G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala582Pro	rs780647583	missense variant	-	NC_000010.11:g.69250560G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp583Asn	rs373673344	missense variant	-	NC_000010.11:g.69250563G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp586Asn	rs1438368330	missense variant	-	NC_000010.11:g.69250572G>A	TOPMed
HKDC1	Q2TB90	p.Met588Val	rs774803161	missense variant	-	NC_000010.11:g.69250578A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Met588Leu	rs774803161	missense variant	-	NC_000010.11:g.69250578A>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Met588Ile	rs201004644	missense variant	-	NC_000010.11:g.69250580G>T	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Met588Ile	rs201004644	missense variant	-	NC_000010.11:g.69250580G>C	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Gly589Ser	rs767785660	missense variant	-	NC_000010.11:g.69250581G>A	ExAC,TOPMed
HKDC1	Q2TB90	p.Lys591Gln	rs376814835	missense variant	-	NC_000010.11:g.69250587A>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys591Glu	rs376814835	missense variant	-	NC_000010.11:g.69250587A>G	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys591Arg	rs764245820	missense variant	-	NC_000010.11:g.69250588A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly592Glu	rs1281077679	missense variant	-	NC_000010.11:g.69250591G>A	TOPMed
HKDC1	Q2TB90	p.Ala593Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69250594C>G	NCI-TCGA
HKDC1	Q2TB90	p.Leu595Gln	rs1236798116	missense variant	-	NC_000010.11:g.69250600T>A	TOPMed
HKDC1	Q2TB90	p.Pro596His	rs200097243	missense variant	-	NC_000010.11:g.69250603C>A	1000Genomes
HKDC1	Q2TB90	p.Gly598Cys	rs758437645	missense variant	-	NC_000010.11:g.69250608G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Thr600Ser	rs779803676	missense variant	-	NC_000010.11:g.69250614A>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Pro604Ser	rs755664551	missense variant	-	NC_000010.11:g.69250626C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys605Phe	rs902495899	missense variant	-	NC_000010.11:g.69250630G>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys605Ser	rs777299110	missense variant	-	NC_000010.11:g.69250629T>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys605Gly	rs777299110	missense variant	-	NC_000010.11:g.69250629T>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys605Tyr	rs902495899	missense variant	-	NC_000010.11:g.69250630G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg606Gly	rs1409532587	missense variant	-	NC_000010.11:g.69250632A>G	gnomAD
HKDC1	Q2TB90	p.Gln607Pro	rs1400723259	missense variant	-	NC_000010.11:g.69250636A>C	gnomAD
HKDC1	Q2TB90	p.Met608Ile	COSM3439963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69250640G>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Ser609Gly	rs748748783	missense variant	-	NC_000010.11:g.69250641A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Ser609Arg	rs748748783	missense variant	-	NC_000010.11:g.69250641A>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Ser609Asn	rs774656516	missense variant	-	NC_000010.11:g.69250642G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Asp611Asn	rs746312049	missense variant	-	NC_000010.11:g.69250647G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Lys612Arg	rs200080595	missense variant	-	NC_000010.11:g.69250651A>G	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile616Thr	rs756719016	missense variant	-	NC_000010.11:g.69257046T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile616Leu	rs1358623011	missense variant	-	NC_000010.11:g.69257045A>T	gnomAD
HKDC1	Q2TB90	p.Ile616Arg	rs756719016	missense variant	-	NC_000010.11:g.69257046T>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly617Ala	rs779530620	missense variant	-	NC_000010.11:g.69257049G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly617Trp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69257048G>T	NCI-TCGA
HKDC1	Q2TB90	p.Thr619Ile	rs1438073787	missense variant	-	NC_000010.11:g.69257055C>T	gnomAD
HKDC1	Q2TB90	p.Gly621Cys	rs772526820	missense variant	-	NC_000010.11:g.69257060G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly621Ser	rs772526820	missense variant	-	NC_000010.11:g.69257060G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Phe622Leu	rs1445861509	missense variant	-	NC_000010.11:g.69257065C>A	gnomAD
HKDC1	Q2TB90	p.Lys623Arg	rs1183656688	missense variant	-	NC_000010.11:g.69257067A>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp626Gly	rs776027362	missense variant	-	NC_000010.11:g.69257076A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Asp626Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69257076A>T	NCI-TCGA
HKDC1	Q2TB90	p.Cys627Ser	rs747325226	missense variant	-	NC_000010.11:g.69257078T>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly629Arg	rs202190629	missense variant	-	NC_000010.11:g.69257084G>A	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Asp631Glu	rs377379406	missense variant	-	NC_000010.11:g.69257092C>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp631Gly	rs201377991	missense variant	-	NC_000010.11:g.69257091A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val632Leu	rs146301899	missense variant	-	NC_000010.11:g.69257093G>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val632Met	rs146301899	missense variant	-	NC_000010.11:g.69257093G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp634Glu	rs758513369	missense variant	-	NC_000010.11:g.69257101C>A	gnomAD
HKDC1	Q2TB90	p.Asp634His	rs767444271	missense variant	-	NC_000010.11:g.69257099G>C	ExAC
HKDC1	Q2TB90	p.Asp634Ala	rs1050395054	missense variant	-	NC_000010.11:g.69257100A>C	TOPMed
HKDC1	Q2TB90	p.Met635Val	rs1176260970	missense variant	-	NC_000010.11:g.69257102A>G	TOPMed
HKDC1	Q2TB90	p.Lys641Gln	rs1252890656	missense variant	-	NC_000010.11:g.69257120A>C	gnomAD
HKDC1	Q2TB90	p.Lys641Arg	rs753476396	missense variant	-	NC_000010.11:g.69257121A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg642Lys	rs756838683	missense variant	-	NC_000010.11:g.69257124G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Asn644Lys	rs367790898	missense variant	-	NC_000010.11:g.69257131C>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asn644His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69257129A>C	NCI-TCGA
HKDC1	Q2TB90	p.Glu645Val	rs1260757747	missense variant	-	NC_000010.11:g.69257328A>T	TOPMed
HKDC1	Q2TB90	p.Phe646Tyr	rs1214723540	missense variant	-	NC_000010.11:g.69257331T>A	TOPMed
HKDC1	Q2TB90	p.Phe646Leu	rs748500904	missense variant	-	NC_000010.11:g.69257330T>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Asp647Asn	rs1282176124	missense variant	-	NC_000010.11:g.69257333G>A	gnomAD
HKDC1	Q2TB90	p.Leu648Val	rs1310056094	missense variant	-	NC_000010.11:g.69257336C>G	gnomAD
HKDC1	Q2TB90	p.Leu648Pro	rs1240641805	missense variant	-	NC_000010.11:g.69257337T>C	gnomAD
HKDC1	Q2TB90	p.Ala652Val	rs749394532	missense variant	-	NC_000010.11:g.69257349C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Val653Ile	rs770987104	missense variant	-	NC_000010.11:g.69257351G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Val653Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69257352T>C	NCI-TCGA
HKDC1	Q2TB90	p.Val654Leu	rs772860598	missense variant	-	NC_000010.11:g.69257354G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val654Met	rs772860598	missense variant	-	NC_000010.11:g.69257354G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp656Asn	rs202109020	missense variant	-	NC_000010.11:g.69257360G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp656Val	rs761610733	missense variant	-	NC_000010.11:g.69257361A>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Asp656Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69257361A>G	NCI-TCGA
HKDC1	Q2TB90	p.Thr657Ala	rs764798395	missense variant	-	NC_000010.11:g.69257363A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Val658Met	rs1364406534	missense variant	-	NC_000010.11:g.69257366G>A	gnomAD
HKDC1	Q2TB90	p.Thr660Ala	COSM4015353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69257372A>G	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Met661Thr	rs536595188	missense variant	-	NC_000010.11:g.69257376T>C	1000Genomes
HKDC1	Q2TB90	p.Met661Ile	rs1367220430	missense variant	-	NC_000010.11:g.69257377G>A	gnomAD
HKDC1	Q2TB90	p.Met661Val	rs1156693801	missense variant	-	NC_000010.11:g.69257375A>G	gnomAD
HKDC1	Q2TB90	p.Met662Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69257379T>C	NCI-TCGA
HKDC1	Q2TB90	p.Thr663Ser	rs762606952	missense variant	-	NC_000010.11:g.69257381A>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Cys664Phe	rs1438227545	missense variant	-	NC_000010.11:g.69257385G>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly665Cys	rs1365096708	missense variant	-	NC_000010.11:g.69257387G>T	gnomAD
HKDC1	Q2TB90	p.Glu667Lys	rs1026731538	missense variant	-	NC_000010.11:g.69257393G>A	gnomAD
HKDC1	Q2TB90	p.Asp668Tyr	rs1240083523	missense variant	-	NC_000010.11:g.69257396G>T	gnomAD
HKDC1	Q2TB90	p.Pro669Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69257399C>T	NCI-TCGA
HKDC1	Q2TB90	p.Asn670Ser	rs1431862550	missense variant	-	NC_000010.11:g.69257403A>G	TOPMed
HKDC1	Q2TB90	p.Glu672Gly	rs1284579175	missense variant	-	NC_000010.11:g.69257409A>G	gnomAD
HKDC1	Q2TB90	p.Ile673Thr	rs371588891	missense variant	-	NC_000010.11:g.69257412T>C	ESP,ExAC,gnomAD
HKDC1	Q2TB90	p.Ile673Val	rs751076735	missense variant	-	NC_000010.11:g.69257411A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu675Met	rs143074395	missense variant	-	NC_000010.11:g.69257417C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala677Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69257423G>C	NCI-TCGA
HKDC1	Q2TB90	p.Gly678Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69258776G>A	NCI-TCGA
HKDC1	Q2TB90	p.Thr679Ala	rs1457478727	missense variant	-	NC_000010.11:g.69258778A>G	gnomAD
HKDC1	Q2TB90	p.Thr679Ile	rs1258241189	missense variant	-	NC_000010.11:g.69258779C>T	TOPMed
HKDC1	Q2TB90	p.Gly680Asp	rs527900343	missense variant	-	NC_000010.11:g.69258782G>A	1000Genomes
HKDC1	Q2TB90	p.Met683Ile	rs1445201241	missense variant	-	NC_000010.11:g.69258792G>T	gnomAD
HKDC1	Q2TB90	p.Met683Val	rs762729234	missense variant	-	NC_000010.11:g.69258790A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Cys684Ter	COSM919895	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.69258795C>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Met686Val	rs1283196836	missense variant	-	NC_000010.11:g.69258799A>G	TOPMed
HKDC1	Q2TB90	p.Glu687Asp	rs766083406	missense variant	-	NC_000010.11:g.69258804G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Met689Ile	rs1330694702	missense variant	-	NC_000010.11:g.69258810G>A	TOPMed
HKDC1	Q2TB90	p.Met689Leu	rs148777877	missense variant	-	NC_000010.11:g.69258808A>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asn691Ser	rs1291225988	missense variant	-	NC_000010.11:g.69258815A>G	TOPMed
HKDC1	Q2TB90	p.Ile692Leu	rs142106143	missense variant	-	NC_000010.11:g.69258817A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile692Phe	rs142106143	missense variant	-	NC_000010.11:g.69258817A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile692Thr	COSM4015354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69258818T>C	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Glu693Lys	rs753235874	missense variant	-	NC_000010.11:g.69258820G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Met694Ile	rs1344680370	missense variant	-	NC_000010.11:g.69258825G>A	TOPMed
HKDC1	Q2TB90	p.Met694Leu	rs1338162638	missense variant	-	NC_000010.11:g.69258823A>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu696Lys	rs1406123443	missense variant	-	NC_000010.11:g.69258829G>A	gnomAD
HKDC1	Q2TB90	p.Glu696Asp	rs569608023	missense variant	-	NC_000010.11:g.69258831G>C	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Gly697Ala	rs151179698	missense variant	-	NC_000010.11:g.69258833G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly697Trp	rs754159524	missense variant	-	NC_000010.11:g.69258832G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly697Arg	rs754159524	missense variant	-	NC_000010.11:g.69258832G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly697Glu	rs151179698	missense variant	-	NC_000010.11:g.69258833G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly697Val	rs151179698	missense variant	-	NC_000010.11:g.69258833G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly697Arg	rs754159524	missense variant	-	NC_000010.11:g.69258832G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly698Val	rs781046015	missense variant	-	NC_000010.11:g.69258836G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly698Asp	rs781046015	missense variant	-	NC_000010.11:g.69258836G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly698Arg	rs775187652	missense variant	-	NC_000010.11:g.69258835G>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly698ValPheSerTerUnkUnk	rs771959819	frameshift	-	NC_000010.11:g.69258831G>-	NCI-TCGA
HKDC1	Q2TB90	p.Lys701Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69258846G>T	NCI-TCGA
HKDC1	Q2TB90	p.Met702Ile	rs1241021187	missense variant	-	NC_000010.11:g.69258849G>A	TOPMed
HKDC1	Q2TB90	p.Asn705Ser	rs776199223	missense variant	-	NC_000010.11:g.69258857A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu707Lys	COSM1348782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69258862G>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Trp708Leu	rs773083853	missense variant	-	NC_000010.11:g.69258866G>T	ExAC
HKDC1	Q2TB90	p.Gly710Glu	rs368474740	missense variant	-	NC_000010.11:g.69258872G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Phe711Tyr	rs774145826	missense variant	-	NC_000010.11:g.69258875T>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp713Asn	rs1336899989	missense variant	-	NC_000010.11:g.69258880G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Asn714Ser	rs139032585	missense variant	-	NC_000010.11:g.69258884A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly715Asp	rs1476652683	missense variant	-	NC_000010.11:g.69258887G>A	gnomAD
HKDC1	Q2TB90	p.Cys716Tyr	rs761277627	missense variant	-	NC_000010.11:g.69258890G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile717Thr	rs200454007	missense variant	-	NC_000010.11:g.69258893T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile717Val	rs1413465327	missense variant	-	NC_000010.11:g.69258892A>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp718Glu	rs1056308077	missense variant	-	NC_000010.11:g.69258897T>A	gnomAD
HKDC1	Q2TB90	p.Asp718Tyr	COSM919896	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69258895G>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Asp719Tyr	rs1433475605	missense variant	-	NC_000010.11:g.69258898G>T	gnomAD
HKDC1	Q2TB90	p.Ile720Val	rs199869181	missense variant	-	NC_000010.11:g.69258901A>G	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Trp721Arg	rs1111335	missense variant	-	NC_000010.11:g.69258904T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Trp721Arg	rs1111335	missense variant	-	NC_000010.11:g.69258904T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Trp721Ter	rs147565138	stop gained	-	NC_000010.11:g.69258906G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Trp721Ter	rs548848365	stop gained	-	NC_000010.11:g.69258905G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr722Ser	rs757311620	missense variant	-	NC_000010.11:g.69258907A>T	TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg723Gln	rs777790533	missense variant	-	NC_000010.11:g.69258911G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg723Ter	rs751546379	stop gained	-	NC_000010.11:g.69258910C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp725Asn	rs1201295597	missense variant	-	NC_000010.11:g.69258916G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr726Met	rs770837285	missense variant	-	NC_000010.11:g.69258920C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu727Asp	rs1170346556	missense variant	-	NC_000010.11:g.69258924G>T	gnomAD
HKDC1	Q2TB90	p.Asp729Gly	rs1409469838	missense variant	-	NC_000010.11:g.69258929A>G	gnomAD
HKDC1	Q2TB90	p.Gly731Val	rs1159722276	missense variant	-	NC_000010.11:g.69258935G>T	gnomAD
HKDC1	Q2TB90	p.Leu733Val	rs775085562	missense variant	-	NC_000010.11:g.69258940T>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asn734Ser	rs1331953420	missense variant	-	NC_000010.11:g.69258944A>G	gnomAD
HKDC1	Q2TB90	p.Gly736Ser	rs941849531	missense variant	-	NC_000010.11:g.69258949G>A	TOPMed
HKDC1	Q2TB90	p.Gln738Arg	rs144539995	missense variant	-	NC_000010.11:g.69258956A>G	ESP,ExAC,gnomAD
HKDC1	Q2TB90	p.Gln738Leu	rs144539995	missense variant	-	NC_000010.11:g.69258956A>T	ESP,ExAC,gnomAD
HKDC1	Q2TB90	p.Tyr740Asn	rs779802342	missense variant	-	NC_000010.11:g.69261140T>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Tyr740His	rs779802342	missense variant	-	NC_000010.11:g.69261140T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu741Lys	rs773583335	missense variant	-	NC_000010.11:g.69261143G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu741Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69261145G>T	NCI-TCGA
HKDC1	Q2TB90	p.Thr744Asn	rs763163389	missense variant	-	NC_000010.11:g.69261153C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Met747Ile	rs766694166	missense variant	-	NC_000010.11:g.69261163G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Tyr748Ser	rs373020719	missense variant	-	NC_000010.11:g.69261165A>C	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Tyr748Asp	rs1267492019	missense variant	-	NC_000010.11:g.69261164T>G	gnomAD
HKDC1	Q2TB90	p.Tyr748Ter	rs759710449	stop gained	-	NC_000010.11:g.69261166C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly750Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69261171G>A	NCI-TCGA
HKDC1	Q2TB90	p.Glu751Asp	rs752785416	missense variant	-	NC_000010.11:g.69261175G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu751Asp	rs752785416	missense variant	-	NC_000010.11:g.69261175G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile752Thr	rs769074895	missense variant	-	NC_000010.11:g.69261177T>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile752Val	rs148886636	missense variant	-	NC_000010.11:g.69261176A>G	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile752Met	rs750234658	missense variant	-	NC_000010.11:g.69261178T>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile752Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69261177T>G	NCI-TCGA
HKDC1	Q2TB90	p.Val753Leu	rs892144948	missense variant	-	NC_000010.11:g.69261179G>C	TOPMed
HKDC1	Q2TB90	p.Arg754Trp	rs758122815	missense variant	-	NC_000010.11:g.69261182C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg754Gln	rs765088532	missense variant	-	NC_000010.11:g.69261183G>A	gnomAD
HKDC1	Q2TB90	p.Gln755His	rs372986223	missense variant	-	NC_000010.11:g.69261187G>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile756Phe	rs1318185771	missense variant	-	NC_000010.11:g.69261188A>T	gnomAD
HKDC1	Q2TB90	p.Asp759Asn	rs1000573971	missense variant	-	NC_000010.11:g.69261197G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu760Val	rs780708097	missense variant	-	NC_000010.11:g.69261200C>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Thr761Ser	rs374480280	missense variant	-	NC_000010.11:g.69261204C>G	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr761Ser	rs1170708816	missense variant	-	NC_000010.11:g.69261203A>T	TOPMed
HKDC1	Q2TB90	p.Gln763Pro	rs770292279	missense variant	-	NC_000010.11:g.69261210A>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Gln763Arg	rs770292279	missense variant	-	NC_000010.11:g.69261210A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly764Ala	rs1478288633	missense variant	-	NC_000010.11:g.69261213G>C	gnomAD
HKDC1	Q2TB90	p.Gly764Cys	rs749723837	missense variant	-	NC_000010.11:g.69261212G>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly764Ser	rs749723837	missense variant	-	NC_000010.11:g.69261212G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu765Phe	rs771181933	missense variant	-	NC_000010.11:g.69261215C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu765Ile	rs771181933	missense variant	-	NC_000010.11:g.69261215C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu765Val	COSM1297391	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69261215C>G	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Leu766Phe	rs1034371933	missense variant	-	NC_000010.11:g.69261218C>T	-
HKDC1	Q2TB90	p.Arg768Pro	rs774217376	missense variant	-	NC_000010.11:g.69261225G>C	gnomAD
HKDC1	Q2TB90	p.Arg768Gln	rs774217376	missense variant	-	NC_000010.11:g.69261225G>A	gnomAD
HKDC1	Q2TB90	p.Arg768Ter	rs759709025	stop gained	-	NC_000010.11:g.69261224C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg768Ter	RCV000755128	nonsense	Nonsyndromic cleft lip palate	NC_000010.11:g.69261224C>T	ClinVar
HKDC1	Q2TB90	p.Gly769Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69261228G>A	NCI-TCGA
HKDC1	Q2TB90	p.Gln770Arg	rs775728498	missense variant	-	NC_000010.11:g.69261231A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile771Thr	rs760769044	missense variant	-	NC_000010.11:g.69261234T>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser772Leu	rs765331356	missense variant	-	NC_000010.11:g.69261237C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg774Ser	rs537386563	missense variant	-	NC_000010.11:g.69261242C>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg774Cys	rs537386563	missense variant	-	NC_000010.11:g.69261242C>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg774His	rs200095420	missense variant	-	NC_000010.11:g.69261243G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg776Trp	rs143285779	missense variant	-	NC_000010.11:g.69261248C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg776Gln	rs539633142	missense variant	-	NC_000010.11:g.69261249G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr777Ile	rs553070057	missense variant	-	NC_000010.11:g.69261252C>T	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Arg778Lys	rs1407536648	missense variant	-	NC_000010.11:g.69261255G>A	TOPMed
HKDC1	Q2TB90	p.Gly779Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69261257G>A	NCI-TCGA
HKDC1	Q2TB90	p.Ile780Val	rs778394034	missense variant	-	NC_000010.11:g.69261260A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu782Lys	rs1463226976	missense variant	-	NC_000010.11:g.69261266G>A	TOPMed
HKDC1	Q2TB90	p.Glu782Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69261266G>C	NCI-TCGA
HKDC1	Q2TB90	p.Thr783Asn	rs1481529073	missense variant	-	NC_000010.11:g.69261270C>A	gnomAD
HKDC1	Q2TB90	p.Ser787Tyr	rs1415184709	missense variant	-	NC_000010.11:g.69261282C>A	gnomAD
HKDC1	Q2TB90	p.Gln788Arg	rs1199704681	missense variant	-	NC_000010.11:g.69261285A>G	gnomAD
HKDC1	Q2TB90	p.Ile789Val	rs774603684	missense variant	-	NC_000010.11:g.69261287A>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Glu790Lys	rs199674269	missense variant	-	NC_000010.11:g.69261290G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser791Asn	rs1160171284	missense variant	-	NC_000010.11:g.69261294G>A	gnomAD
HKDC1	Q2TB90	p.Asp792Asn	rs200049397	missense variant	-	NC_000010.11:g.69265586G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Asp792Tyr	rs200049397	missense variant	-	NC_000010.11:g.69265586G>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg793Gln	rs939426664	missense variant	-	NC_000010.11:g.69265590G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg793Gly	rs140614647	missense variant	-	NC_000010.11:g.69265589C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg793Trp	rs140614647	missense variant	-	NC_000010.11:g.69265589C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala795Thr	rs750940610	missense variant	-	NC_000010.11:g.69265595G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Ala795Gly	rs758869915	missense variant	-	NC_000010.11:g.69265596C>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu796Pro	rs768772089	missense variant	-	NC_000010.11:g.69265599T>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu796Phe	rs747327401	missense variant	-	NC_000010.11:g.69265598C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Gln798His	rs781406080	missense variant	-	NC_000010.11:g.69265606G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gln798Arg	rs1449332162	missense variant	-	NC_000010.11:g.69265605A>G	gnomAD
HKDC1	Q2TB90	p.Val799Ile	rs748236433	missense variant	-	NC_000010.11:g.69265607G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Gln805Glu	rs769896723	missense variant	-	NC_000010.11:g.69265625C>G	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gln805Lys	rs769896723	missense variant	-	NC_000010.11:g.69265625C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu806Pro	rs1279145982	missense variant	-	NC_000010.11:g.69265629T>C	gnomAD
HKDC1	Q2TB90	p.Leu806Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69265628C>G	NCI-TCGA
HKDC1	Q2TB90	p.Gly807Ser	rs774312956	missense variant	-	NC_000010.11:g.69265631G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly807Arg	rs774312956	missense variant	-	NC_000010.11:g.69265631G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu808Pro	COSM4933579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69265635T>C	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Thr811Arg	rs556646884	missense variant	-	NC_000010.11:g.69265644C>G	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Thr811Met	rs556646884	missense variant	-	NC_000010.11:g.69265644C>T	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys812Tyr	rs200523420	missense variant	-	NC_000010.11:g.69265647G>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val817Met	rs199508356	missense variant	-	NC_000010.11:g.69265661G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val818Met	rs755019092	missense variant	-	NC_000010.11:g.69265664G>A	gnomAD
HKDC1	Q2TB90	p.Glu820Asp	rs1294446657	missense variant	-	NC_000010.11:g.69265672G>T	TOPMed
HKDC1	Q2TB90	p.Cys822Ter	rs373165480	stop gained	-	NC_000010.11:g.69265678C>A	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Cys822Trp	rs373165480	missense variant	-	NC_000010.11:g.69265678C>G	1000Genomes,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly823Arg	rs749908835	missense variant	-	NC_000010.11:g.69265679G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly823Arg	rs749908835	missense variant	-	NC_000010.11:g.69265679G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Val825Ala	rs1425203687	missense variant	-	NC_000010.11:g.69265686T>C	gnomAD
HKDC1	Q2TB90	p.Val825Met	rs766933020	missense variant	-	NC_000010.11:g.69265685G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Ser826Pro	rs1013856901	missense variant	-	NC_000010.11:g.69265688T>C	TOPMed
HKDC1	Q2TB90	p.Arg827Trp	rs138235256	missense variant	-	NC_000010.11:g.69265691C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg827Gln	rs755358343	missense variant	-	NC_000010.11:g.69265692G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg827Pro	rs755358343	missense variant	-	NC_000010.11:g.69265692G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg828Gln	rs367579140	missense variant	-	NC_000010.11:g.69265695G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg828Trp	rs748372161	missense variant	-	NC_000010.11:g.69265694C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala829Val	rs777856618	missense variant	-	NC_000010.11:g.69265698C>T	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala830Ser	rs1423158593	missense variant	-	NC_000010.11:g.69265700G>T	TOPMed
HKDC1	Q2TB90	p.Ala830Val	rs1398340797	missense variant	-	NC_000010.11:g.69265701C>T	gnomAD
HKDC1	Q2TB90	p.Gln831His	rs775404201	missense variant	-	NC_000010.11:g.69265705G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Gln831Lys	rs772004903	missense variant	-	NC_000010.11:g.69265703C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu832Phe	rs746836005	missense variant	-	NC_000010.11:g.69265706C>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Cys833Ter	rs768472931	stop gained	-	NC_000010.11:g.69265711C>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly834Ser	rs761553657	missense variant	-	NC_000010.11:g.69265712G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly834Arg	rs761553657	missense variant	-	NC_000010.11:g.69265712G>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly836Val	rs1255489509	missense variant	-	NC_000010.11:g.69265719G>T	TOPMed
HKDC1	Q2TB90	p.Gly836Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69265718G>T	NCI-TCGA
HKDC1	Q2TB90	p.Ala839Thr	rs143037840	missense variant	-	NC_000010.11:g.69265727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile840Thr	rs752955545	missense variant	-	NC_000010.11:g.69265731T>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Ile840Met	rs372353917	missense variant	-	NC_000010.11:g.69265732A>G	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ile840Val	rs767957691	missense variant	-	NC_000010.11:g.69265730A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu842Lys	rs1442064282	missense variant	-	NC_000010.11:g.69265736G>A	gnomAD
HKDC1	Q2TB90	p.Lys843Thr	rs369853003	missense variant	-	NC_000010.11:g.69265740A>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys843Gln	rs1298479205	missense variant	-	NC_000010.11:g.69265739A>C	gnomAD
HKDC1	Q2TB90	p.Arg844GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.69265737A>-	NCI-TCGA
HKDC1	Q2TB90	p.Glu846Asp	rs373547937	missense variant	-	NC_000010.11:g.69265750A>C	ESP,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp847Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69265751G>A	NCI-TCGA
HKDC1	Q2TB90	p.Gly849Glu	rs749440277	missense variant	-	NC_000010.11:g.69265758G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Gly849Arg	COSM3439969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69265757G>A	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Glu851Gly	rs1371596488	missense variant	-	NC_000010.11:g.69265764A>G	TOPMed
HKDC1	Q2TB90	p.Glu851Val	COSM6066553	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69265764A>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Leu853Val	rs746931260	missense variant	-	NC_000010.11:g.69265769C>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Leu853Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69265769C>A	NCI-TCGA
HKDC1	Q2TB90	p.Thr856Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69265778A>G	NCI-TCGA
HKDC1	Q2TB90	p.Val857Met	rs1240729355	missense variant	-	NC_000010.11:g.69265781G>A	gnomAD
HKDC1	Q2TB90	p.Val859Met	rs781059054	missense variant	-	NC_000010.11:g.69265787G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly861Ser	rs772992778	missense variant	-	NC_000010.11:g.69265793G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Tyr864Cys	rs762602691	missense variant	-	NC_000010.11:g.69265803A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Lys865Glu	rs1371156697	missense variant	-	NC_000010.11:g.69265805A>G	gnomAD
HKDC1	Q2TB90	p.Lys865Asn	rs1173052333	missense variant	-	NC_000010.11:g.69265807G>C	TOPMed
HKDC1	Q2TB90	p.Lys865Arg	rs1218804568	missense variant	-	NC_000010.11:g.69265806A>G	gnomAD
HKDC1	Q2TB90	p.His867Gln	rs770536792	missense variant	-	NC_000010.11:g.69265813C>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Arg872Ter	rs1394308218	stop gained	-	NC_000010.11:g.69266617A>T	gnomAD
HKDC1	Q2TB90	p.Leu874Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.69266625G>T	NCI-TCGA
HKDC1	Q2TB90	p.Gln875Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.69266626C>T	NCI-TCGA
HKDC1	Q2TB90	p.Glu876Lys	rs758906817	missense variant	-	NC_000010.11:g.69266629G>A	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu876Ala	rs1051979002	missense variant	-	NC_000010.11:g.69266630A>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Val878Met	rs1469015247	missense variant	-	NC_000010.11:g.69266635G>A	gnomAD
HKDC1	Q2TB90	p.Lys879Arg	rs772706775	missense variant	-	NC_000010.11:g.69266639A>G	ExAC,gnomAD
HKDC1	Q2TB90	p.Glu880Gly	rs550707062	missense variant	-	NC_000010.11:g.69266642A>G	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Glu880Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.69266641G>T	NCI-TCGA
HKDC1	Q2TB90	p.Leu881Pro	rs1340715802	missense variant	-	NC_000010.11:g.69266645T>C	gnomAD
HKDC1	Q2TB90	p.Leu881Val	rs1460754596	missense variant	-	NC_000010.11:g.69266644C>G	TOPMed
HKDC1	Q2TB90	p.Ala882Thr	rs1217537485	missense variant	-	NC_000010.11:g.69266647G>A	TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala882Asp	rs923490364	missense variant	-	NC_000010.11:g.69266648C>A	gnomAD
HKDC1	Q2TB90	p.Ala882Val	rs923490364	missense variant	-	NC_000010.11:g.69266648C>T	gnomAD
HKDC1	Q2TB90	p.Pro883Leu	rs1338055612	missense variant	-	NC_000010.11:g.69266651C>T	gnomAD
HKDC1	Q2TB90	p.Arg884Gln	rs759134508	missense variant	-	NC_000010.11:g.69266654G>A	gnomAD
HKDC1	Q2TB90	p.Arg884Gly	rs375835998	missense variant	-	NC_000010.11:g.69266653C>G	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Arg884Ter	rs375835998	stop gained	-	NC_000010.11:g.69266653C>T	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Asp886Asn	rs141171820	missense variant	-	NC_000010.11:g.69266659G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val887Ala	rs1193069224	missense variant	-	NC_000010.11:g.69266663T>C	gnomAD
HKDC1	Q2TB90	p.Val887Met	rs1478257285	missense variant	-	NC_000010.11:g.69266662G>A	gnomAD
HKDC1	Q2TB90	p.Thr888Ser	rs765315857	missense variant	-	NC_000010.11:g.69266665A>T	ExAC,gnomAD
HKDC1	Q2TB90	p.Met890Ile	rs1193356176	missense variant	-	NC_000010.11:g.69266673G>A	TOPMed
HKDC1	Q2TB90	p.Leu891Pro	rs1469208100	missense variant	-	NC_000010.11:g.69266675T>C	TOPMed
HKDC1	Q2TB90	p.Ser892Pro	rs148418934	missense variant	-	NC_000010.11:g.69266677T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Ser896Asn	rs1432675747	missense variant	-	NC_000010.11:g.69266690G>A	gnomAD
HKDC1	Q2TB90	p.Gly899Arg	rs373227806	missense variant	-	NC_000010.11:g.69266698G>A	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Gly899Arg	rs373227806	missense variant	-	NC_000010.11:g.69266698G>C	ESP,ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu902Pro	rs756080787	missense variant	-	NC_000010.11:g.69266708T>C	ExAC,gnomAD
HKDC1	Q2TB90	p.Thr904Asn	rs1332258408	missense variant	-	NC_000010.11:g.69266714C>A	gnomAD
HKDC1	Q2TB90	p.Val906Met	rs749034197	missense variant	-	NC_000010.11:g.69266719G>A	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Val906Leu	rs749034197	missense variant	-	NC_000010.11:g.69266719G>C	ExAC,TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys908Glu	rs1001932273	missense variant	-	NC_000010.11:g.69266725A>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Lys908Asn	rs1347749417	missense variant	-	NC_000010.11:g.69266727G>T	gnomAD
HKDC1	Q2TB90	p.Lys908Gln	rs1001932273	missense variant	-	NC_000010.11:g.69266725A>C	TOPMed,gnomAD
HKDC1	Q2TB90	p.Leu910Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.69266732T>A	NCI-TCGA
HKDC1	Q2TB90	p.Leu910Ser	COSM4015356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69266732T>C	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Gln911Arg	rs1167065899	missense variant	-	NC_000010.11:g.69266735A>G	TOPMed,gnomAD
HKDC1	Q2TB90	p.Ala913Gly	rs1395122396	missense variant	-	NC_000010.11:g.69266741C>G	gnomAD
HKDC1	Q2TB90	p.Gln914Arg	rs566448829	missense variant	-	NC_000010.11:g.69266744A>G	1000Genomes,ExAC,gnomAD
HKDC1	Q2TB90	p.Glu916Asp	COSM919899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.69266751G>T	NCI-TCGA Cosmic
HKDC1	Q2TB90	p.Asn917Lys	rs906219	missense variant	-	NC_000010.11:g.69266754C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His2Arg	rs770365102	missense variant	-	NC_000011.10:g.126023472T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro3Leu	rs748719428	missense variant	-	NC_000011.10:g.126023469G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro3Ser	rs771518021	missense variant	-	NC_000011.10:g.126023470G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Asp4Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126023467C>A	NCI-TCGA
CDON	Q4KMG0	p.Pro7Leu	rs201873943	missense variant	-	NC_000011.10:g.126023457G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Leu8Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126023454A>G	NCI-TCGA
CDON	Q4KMG0	p.Cys9Gly	rs747426609	missense variant	-	NC_000011.10:g.126023452A>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Cys9Trp	rs1382278950	missense variant	-	NC_000011.10:g.126023450A>C	gnomAD
CDON	Q4KMG0	p.Cys9Arg	rs747426609	missense variant	-	NC_000011.10:g.126023452A>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Cys9Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126023451C>T	NCI-TCGA
CDON	Q4KMG0	p.Cys9Ter	rs1382278950	stop gained	-	NC_000011.10:g.126023450A>T	gnomAD
CDON	Q4KMG0	p.Thr10Ala	rs1294933026	missense variant	-	NC_000011.10:g.126023449T>C	gnomAD
CDON	Q4KMG0	p.Thr10Ile	rs111293074	missense variant	-	NC_000011.10:g.126023448G>A	TOPMed
CDON	Q4KMG0	p.Tyr13Cys	rs758651711	missense variant	-	NC_000011.10:g.126023439T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Val14Ile	rs750412698	missense variant	-	NC_000011.10:g.126023437C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Val14Gly	rs1261401798	missense variant	-	NC_000011.10:g.126023436A>C	TOPMed
CDON	Q4KMG0	p.Thr15Ile	rs749799548	missense variant	-	NC_000011.10:g.126023433G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr17Ile	rs767275943	missense variant	-	NC_000011.10:g.126023427G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr17Lys	rs767275943	missense variant	-	NC_000011.10:g.126023427G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile18Val	rs759201946	missense variant	-	NC_000011.10:g.126023425T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Cys20Arg	rs1488968807	missense variant	-	NC_000011.10:g.126023419A>G	gnomAD
CDON	Q4KMG0	p.Ser21Ala	rs774233284	missense variant	-	NC_000011.10:g.126023416A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ser21Cys	COSM70132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126023415G>C	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser21Tyr	COSM4847472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126023415G>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser22Cys	rs765875828	missense variant	-	NC_000011.10:g.126023412G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser22Phe	rs765875828	missense variant	-	NC_000011.10:g.126023412G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val23Leu	rs762677073	missense variant	-	NC_000011.10:g.126023410C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp26Glu	rs773050277	missense variant	-	NC_000011.10:g.126021519G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Asp26Glu	COSM924639	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021519G>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ala28Thr	rs377413373	missense variant	-	NC_000011.10:g.126021515C>T	ESP,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala28Gly	COSM3445011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021514G>C	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Pro29Ser	rs1258898315	missense variant	-	NC_000011.10:g.126021512G>A	gnomAD
CDON	Q4KMG0	p.Pro29Leu	rs879232982	missense variant	-	NC_000011.10:g.126021511G>A	gnomAD
CDON	Q4KMG0	p.Thr32Ala	RCV000354318	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126021503T>C	ClinVar
CDON	Q4KMG0	p.Thr32Ala	rs886047978	missense variant	-	NC_000011.10:g.126021503T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Glu34Ala	rs776289358	missense variant	-	NC_000011.10:g.126021496T>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu34Gly	rs776289358	missense variant	-	NC_000011.10:g.126021496T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro35Leu	rs768986679	missense variant	-	NC_000011.10:g.126021493G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro35Thr	COSM6131790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021494G>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Val39Ile	rs373425085	missense variant	-	NC_000011.10:g.126021482C>T	ESP,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly43Ser	rs1352633518	missense variant	-	NC_000011.10:g.126021470C>T	TOPMed
CDON	Q4KMG0	p.Pro45Leu	rs779057166	missense variant	-	NC_000011.10:g.126021463G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro45Arg	rs779057166	missense variant	-	NC_000011.10:g.126021463G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro45His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126021463G>T	NCI-TCGA
CDON	Q4KMG0	p.Cys50Arg	rs1421716494	missense variant	-	NC_000011.10:g.126021449A>G	gnomAD
CDON	Q4KMG0	p.Ser51Pro	rs777839995	missense variant	-	NC_000011.10:g.126021446A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ser51Cys	rs1412593151	missense variant	-	NC_000011.10:g.126021445G>C	TOPMed
CDON	Q4KMG0	p.Ala52Thr	rs1292254660	missense variant	-	NC_000011.10:g.126021443C>T	TOPMed
CDON	Q4KMG0	p.Gln53Arg	rs1370636072	missense variant	-	NC_000011.10:g.126021439T>C	gnomAD
CDON	Q4KMG0	p.Thr56Ala	rs751578730	missense variant	-	NC_000011.10:g.126021431T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Thr56Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126021430G>C	NCI-TCGA
CDON	Q4KMG0	p.Thr57Ser	rs779680622	missense variant	-	NC_000011.10:g.126021427G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg58Leu	rs377281257	missense variant	-	NC_000011.10:g.126021424C>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg58Cys	rs758166096	missense variant	-	NC_000011.10:g.126021425G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg58His	rs377281257	missense variant	-	NC_000011.10:g.126021424C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser60Leu	rs764920509	missense variant	-	NC_000011.10:g.126021418G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Trp61Arg	rs761571073	missense variant	-	NC_000011.10:g.126021416A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Gly65Arg	rs1012612060	missense variant	-	NC_000011.10:g.126021404C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Lys66Arg	RCV000299199	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126021400T>C	ClinVar
CDON	Q4KMG0	p.Lys66Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126021399T>G	NCI-TCGA
CDON	Q4KMG0	p.Lys66Arg	rs7122277	missense variant	-	NC_000011.10:g.126021400T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Lys66Arg	rs7122277	missense variant	-	NC_000011.10:g.126021400T>C	UniProt,dbSNP
CDON	Q4KMG0	p.Lys66Arg	VAR_056038	missense variant	-	NC_000011.10:g.126021400T>C	UniProt
CDON	Q4KMG0	p.Leu68Met	rs373096471	missense variant	-	NC_000011.10:g.126021395A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp69Gly	rs1400404626	missense variant	-	NC_000011.10:g.126021391T>C	gnomAD
CDON	Q4KMG0	p.Asn71His	rs759852629	missense variant	-	NC_000011.10:g.126021386T>G	ExAC,gnomAD
CDON	Q4KMG0	p.Glu73Val	COSM466541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021379T>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.His74Arg	rs771079195	missense variant	-	NC_000011.10:g.126021376T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Val75Ala	rs1461359021	missense variant	-	NC_000011.10:g.126021373A>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Val75Ile	rs3740912	missense variant	-	NC_000011.10:g.126021374C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val75Leu	rs3740912	missense variant	-	NC_000011.10:g.126021374C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val75Ile	RCV000403980	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126021374C>T	ClinVar
CDON	Q4KMG0	p.Val75Ile	RCV000081795	missense variant	-	NC_000011.10:g.126021374C>T	ClinVar
CDON	Q4KMG0	p.Lys76Thr	COSM4019089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021370T>G	NCI-TCGA Cosmic
CDON	Q4KMG0	p.His78Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126021365G>T	NCI-TCGA
CDON	Q4KMG0	p.Gly80Val	rs537243111	missense variant	-	NC_000011.10:g.126021358C>A	1000Genomes
CDON	Q4KMG0	p.Thr83Arg	rs1475949375	missense variant	-	NC_000011.10:g.126021349G>C	gnomAD
CDON	Q4KMG0	p.Ile84Val	rs1190562999	missense variant	-	NC_000011.10:g.126021347T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ser86Cys	rs780005078	missense variant	-	NC_000011.10:g.126021340G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Leu87GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.126021341_126021342AA>-	NCI-TCGA
CDON	Q4KMG0	p.Asn88Asp	rs750189088	missense variant	-	NC_000011.10:g.126021335T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser89Phe	COSM5371973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021331G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser90Phe	rs778909843	missense variant	-	NC_000011.10:g.126021328G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Tyr95Cys	rs139453844	missense variant	-	NC_000011.10:g.126021313T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Tyr95Phe	rs139453844	missense variant	-	NC_000011.10:g.126021313T>A	ExAC,gnomAD
CDON	Q4KMG0	p.Gln96Arg	rs1428881983	missense variant	-	NC_000011.10:g.126021310T>C	gnomAD
CDON	Q4KMG0	p.Leu98Phe	rs1204039510	missense variant	-	NC_000011.10:g.126021305G>A	gnomAD
CDON	Q4KMG0	p.Asn100Asp	rs1326603662	missense variant	-	NC_000011.10:g.126021299T>C	gnomAD
CDON	Q4KMG0	p.Asn100Ser	rs763492645	missense variant	-	NC_000011.10:g.126021298T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn101Ser	rs1173475844	missense variant	-	NC_000011.10:g.126021295T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ser102Asn	rs752178829	missense variant	-	NC_000011.10:g.126021292C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile103Val	rs1231060824	missense variant	-	NC_000011.10:g.126021290T>C	gnomAD
CDON	Q4KMG0	p.Gly104Ser	rs375179830	missense variant	-	NC_000011.10:g.126021287C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile106Val	rs774680347	missense variant	-	NC_000011.10:g.126021281T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ser108Asn	rs1192415671	missense variant	-	NC_000011.10:g.126021274C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Ser108Thr	rs1192415671	missense variant	-	NC_000011.10:g.126021274C>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Gly109Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126021271C>T	NCI-TCGA
CDON	Q4KMG0	p.Ala111Thr	rs1239869217	missense variant	-	NC_000011.10:g.126021266C>T	gnomAD
CDON	Q4KMG0	p.Ala111Val	rs201984605	missense variant	-	NC_000011.10:g.126021265G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Ser114Phe	COSM4019088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021256G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Leu118Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126019763G>T	NCI-TCGA
CDON	Q4KMG0	p.Gly119Ser	rs1278297117	missense variant	-	NC_000011.10:g.126019760C>T	gnomAD
CDON	Q4KMG0	p.Asp120Tyr	rs745781142	missense variant	-	NC_000011.10:g.126019757C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Phe121Cys	COSM3445010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126019753A>C	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Gly122Val	rs559988708	missense variant	-	NC_000011.10:g.126019750C>A	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Ser123Leu	COSM1297792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126019747G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser124Phe	rs572238103	missense variant	-	NC_000011.10:g.126019744G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr125Ile	rs1432443996	missense variant	-	NC_000011.10:g.126019741G>A	gnomAD
CDON	Q4KMG0	p.Lys126Arg	rs749042631	missense variant	-	NC_000011.10:g.126019738T>C	ExAC,gnomAD
CDON	Q4KMG0	p.His127Arg	rs1477006684	missense variant	-	NC_000011.10:g.126019735T>C	gnomAD
CDON	Q4KMG0	p.Ile129Asn	rs755773724	missense variant	-	NC_000011.10:g.126019729A>T	ExAC,gnomAD
CDON	Q4KMG0	p.Ile129Thr	rs755773724	missense variant	-	NC_000011.10:g.126019729A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Glu132Gln	COSM3791308	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126019721C>G	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Lys134Thr	rs727503849	missense variant	-	NC_000011.10:g.126019714T>G	-
CDON	Q4KMG0	p.Lys134Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126019715T>C	NCI-TCGA
CDON	Q4KMG0	p.Lys134Thr	RCV000152961	missense variant	-	NC_000011.10:g.126019714T>G	ClinVar
CDON	Q4KMG0	p.Ser135Arg	rs1012904303	missense variant	-	NC_000011.10:g.126019712T>G	TOPMed
CDON	Q4KMG0	p.Ser135ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.126019712T>-	NCI-TCGA
CDON	Q4KMG0	p.Gly137Cys	rs754529981	missense variant	-	NC_000011.10:g.126019706C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Gly137Ser	rs754529981	missense variant	-	NC_000011.10:g.126019706C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Gly137Ala	rs751089434	missense variant	-	NC_000011.10:g.126019705C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Cys141Trp	rs1256506796	missense variant	-	NC_000011.10:g.126019692G>C	gnomAD
CDON	Q4KMG0	p.Arg142Trp	rs780474749	missense variant	-	NC_000011.10:g.126019691T>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg142Gly	rs780474749	missense variant	-	NC_000011.10:g.126019691T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val143Ile	rs1192099304	missense variant	-	NC_000011.10:g.126019688C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Val143Gly	rs758844124	missense variant	-	NC_000011.10:g.126019687A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Pro144Leu	rs750786915	missense variant	-	NC_000011.10:g.126019684G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro144Ser	rs1262743314	missense variant	-	NC_000011.10:g.126019685G>A	gnomAD
CDON	Q4KMG0	p.Pro148Ser	rs1247152221	missense variant	-	NC_000011.10:g.126019673G>A	-
CDON	Q4KMG0	p.Val152Leu	rs1235672810	missense variant	-	NC_000011.10:g.126019661C>A	gnomAD
CDON	Q4KMG0	p.Arg153His	rs754060200	missense variant	-	NC_000011.10:g.126019657C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg153Cys	rs1356704055	missense variant	-	NC_000011.10:g.126019658G>A	gnomAD
CDON	Q4KMG0	p.Lys155Glu	COSM924636	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126019652T>C	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Arg157Trp	rs760795607	missense variant	-	NC_000011.10:g.126019646G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg157Gln	rs775714222	missense variant	-	NC_000011.10:g.126019645C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Lys159Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126019639T>C	NCI-TCGA
CDON	Q4KMG0	p.Leu161Pro	rs779732689	missense variant	-	NC_000011.10:g.126019633A>G	gnomAD
CDON	Q4KMG0	p.Glu162Gly	rs1166523169	missense variant	-	NC_000011.10:g.126019630T>C	gnomAD
CDON	Q4KMG0	p.Glu162Lys	rs3740909	missense variant	-	NC_000011.10:g.126019631C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu162Lys	RCV000342822	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126019631C>T	ClinVar
CDON	Q4KMG0	p.Glu162Lys	rs3740909	missense variant	-	NC_000011.10:g.126019631C>T	UniProt,dbSNP
CDON	Q4KMG0	p.Glu162Lys	VAR_056039	missense variant	-	NC_000011.10:g.126019631C>T	UniProt
CDON	Q4KMG0	p.His163Tyr	rs762852141	missense variant	-	NC_000011.10:g.126019628G>A	ExAC,gnomAD
CDON	Q4KMG0	p.His163Arg	rs374740093	missense variant	-	NC_000011.10:g.126019627T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr165Ala	rs1185475705	missense variant	-	NC_000011.10:g.126019622T>C	gnomAD
CDON	Q4KMG0	p.Glu166Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126018472C>A	NCI-TCGA
CDON	Q4KMG0	p.Asn175Ile	rs761472552	missense variant	-	NC_000011.10:g.126018446T>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn175Thr	rs761472552	missense variant	-	NC_000011.10:g.126018446T>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn175Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126018447T>A	NCI-TCGA
CDON	Q4KMG0	p.Val181Gly	rs1305176432	missense variant	-	NC_000011.10:g.126018428A>C	gnomAD
CDON	Q4KMG0	p.Asp185Asn	rs1369590570	missense variant	-	NC_000011.10:g.126018417C>T	gnomAD
CDON	Q4KMG0	p.Lys186Met	COSM924635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126018413T>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Tyr189Ter	rs1393032049	stop gained	-	NC_000011.10:g.126018403G>T	gnomAD
CDON	Q4KMG0	p.Lys190Glu	rs768285944	missense variant	-	NC_000011.10:g.126018402T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Cys191Tyr	rs368488832	missense variant	-	NC_000011.10:g.126018398C>T	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Asn195His	rs1175745065	missense variant	-	NC_000011.10:g.126018387T>G	gnomAD
CDON	Q4KMG0	p.Pro196Leu	rs771535458	missense variant	-	NC_000011.10:g.126018383G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro196Ser	rs1454922149	missense variant	-	NC_000011.10:g.126018384G>A	gnomAD
CDON	Q4KMG0	p.Val197Ile	rs745409017	missense variant	-	NC_000011.10:g.126018381C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Thr198Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126018377G>A	NCI-TCGA
CDON	Q4KMG0	p.His199Arg	rs757784108	missense variant	-	NC_000011.10:g.126018374T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His199Tyr	rs1421351336	missense variant	-	NC_000011.10:g.126018375G>A	gnomAD
CDON	Q4KMG0	p.His199Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126018373A>C	NCI-TCGA
CDON	Q4KMG0	p.His199Leu	rs757784108	missense variant	-	NC_000011.10:g.126018374T>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gln200Glu	rs749603423	missense variant	-	NC_000011.10:g.126018372G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Gln200Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126018372G>T	NCI-TCGA
CDON	Q4KMG0	p.Lys202Gln	rs1455091916	missense variant	-	NC_000011.10:g.126018366T>G	TOPMed
CDON	Q4KMG0	p.Pro205Leu	rs1291462586	missense variant	-	NC_000011.10:g.126018356G>A	TOPMed
CDON	Q4KMG0	p.Pro205Ala	rs778337122	missense variant	-	NC_000011.10:g.126018357G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Gly207Arg	rs1300596095	missense variant	-	NC_000011.10:g.126018351C>G	gnomAD
CDON	Q4KMG0	p.Gly207Asp	rs756395737	missense variant	-	NC_000011.10:g.126018350C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Arg208Ter	rs767611891	stop gained	-	NC_000011.10:g.126018348G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Arg208Gln	rs754962623	missense variant	-	NC_000011.10:g.126018347C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg208Gly	rs767611891	missense variant	-	NC_000011.10:g.126018348G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Arg208Leu	rs754962623	missense variant	-	NC_000011.10:g.126018347C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Lys209Glu	rs751689300	missense variant	-	NC_000011.10:g.126018345T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Lys209Asn	COSM1561535	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126018343C>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Lys209Asn	rs765028023	missense variant	-	NC_000011.10:g.126018343C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Leu211Phe	rs1304476416	missense variant	-	NC_000011.10:g.126018339G>A	TOPMed
CDON	Q4KMG0	p.Val212Ala	COSM924634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126018335A>G	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Val212Leu	rs1313305429	missense variant	-	NC_000011.10:g.126018336C>A	gnomAD
CDON	Q4KMG0	p.Arg214Cys	rs761798261	missense variant	-	NC_000011.10:g.126018330G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro215Arg	rs377604853	missense variant	-	NC_000011.10:g.126017372G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser216Cys	rs760426695	missense variant	-	NC_000011.10:g.126017369G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Asp219Glu	rs775361946	missense variant	-	NC_000011.10:g.126017359A>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His221Asn	rs767017573	missense variant	-	NC_000011.10:g.126017355G>T	ExAC,gnomAD
CDON	Q4KMG0	p.Ile222Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126017351A>T	NCI-TCGA
CDON	Q4KMG0	p.Ala230Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126017328C>T	NCI-TCGA
CDON	Q4KMG0	p.Ala232Val	rs1273740515	missense variant	-	NC_000011.10:g.126017321G>A	gnomAD
CDON	Q4KMG0	p.Val233Leu	rs770600525	missense variant	-	NC_000011.10:g.126017319C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ser235Pro	rs749790277	missense variant	-	NC_000011.10:g.126017313A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Arg236Cys	rs773805014	missense variant	-	NC_000011.10:g.126017310G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg236His	rs148250074	missense variant	-	NC_000011.10:g.126017309C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser237Ile	rs143116838	missense variant	-	NC_000011.10:g.126017306C>A	ESP
CDON	Q4KMG0	p.Val239Ile	rs748455462	missense variant	-	NC_000011.10:g.126017301C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val245Leu	rs1461439026	missense variant	-	NC_000011.10:g.126017283C>G	gnomAD
CDON	Q4KMG0	p.Ser246Arg	rs1412033288	missense variant	-	NC_000011.10:g.126017280T>G	gnomAD
CDON	Q4KMG0	p.Pro249Ser	rs747295873	missense variant	-	NC_000011.10:g.126017271G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro249Leu	rs138087778	missense variant	-	NC_000011.10:g.126017270G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala250HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.126017269_126017270insCTGTAACCTTGGAGTGTGT	NCI-TCGA
CDON	Q4KMG0	p.Ala250Gly	rs1186043179	missense variant	-	NC_000011.10:g.126017267G>C	gnomAD
CDON	Q4KMG0	p.TyrTrpLeuLysAspGlyGlnAspIleAla254TyrTrpLeuLysAspGlyGlnAspIleGlyTerArgThrGlyArgThrLeuUnk	rs1226201223	stop gained	-	NC_000011.10:g.126017255_126017256insGTCCTGCCCGTCCTTTAGCCAAT	gnomAD
CDON	Q4KMG0	p.Tyr254Asp	rs1253145949	missense variant	-	NC_000011.10:g.126017256A>C	gnomAD
CDON	Q4KMG0	p.Asp258Gly	rs1449837925	missense variant	-	NC_000011.10:g.126017243T>C	gnomAD
CDON	Q4KMG0	p.Asp258Glu	rs777623487	missense variant	-	NC_000011.10:g.126017242G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly259Glu	rs752417979	missense variant	-	NC_000011.10:g.126017240C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Gly259Arg	rs145549613	missense variant	-	NC_000011.10:g.126017241C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gln260ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.126017239C>-	NCI-TCGA
CDON	Q4KMG0	p.Asp261Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126017234T>C	NCI-TCGA
CDON	Q4KMG0	p.Ile262Val	rs767409841	missense variant	-	NC_000011.10:g.126017232T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Pro264Leu	rs140542787	missense variant	-	NC_000011.10:g.126017225G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro264Ala	rs377050469	missense variant	-	NC_000011.10:g.126017226G>C	ESP
CDON	Q4KMG0	p.Pro264Gln	rs140542787	missense variant	-	NC_000011.10:g.126017225G>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro264Gln	RCV000481702	missense variant	-	NC_000011.10:g.126017225G>T	ClinVar
CDON	Q4KMG0	p.Pro264Thr	COSM4019084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126017226G>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Gly265Ter	COSM924633	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.126017223C>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Asn267Ile	rs766151030	missense variant	-	NC_000011.10:g.126017216T>A	ExAC,gnomAD
CDON	Q4KMG0	p.Asn267Ser	rs766151030	missense variant	-	NC_000011.10:g.126017216T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Arg270Met	rs190436988	missense variant	-	NC_000011.10:g.126017207C>A	1000Genomes
CDON	Q4KMG0	p.Arg270Gly	rs1314339607	missense variant	-	NC_000011.10:g.126017208T>C	TOPMed
CDON	Q4KMG0	p.Leu271Phe	rs772851258	missense variant	-	NC_000011.10:g.126017203C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser273Phe	rs1410881017	missense variant	-	NC_000011.10:g.126017198G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.His274Arg	rs770365311	missense variant	-	NC_000011.10:g.126017195T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Leu275Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126017193G>A	NCI-TCGA
CDON	Q4KMG0	p.Asp278Asn	COSM1507332	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126017184C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser279Asn	rs1455362642	missense variant	-	NC_000011.10:g.126017180C>T	gnomAD
CDON	Q4KMG0	p.Ser279Arg	rs776831132	missense variant	-	NC_000011.10:g.126017179G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val280Ile	rs532734340	missense variant	-	NC_000011.10:g.126017178C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val280Ala	rs1245354393	missense variant	-	NC_000011.10:g.126017177A>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Pro282Thr	rs1476973615	missense variant	-	NC_000011.10:g.126017172G>T	gnomAD
CDON	Q4KMG0	p.Pro282Leu	rs201323548	missense variant	-	NC_000011.10:g.126017171G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala283Val	rs772289417	missense variant	-	NC_000011.10:g.126017168G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser285Thr	rs1364129181	missense variant	-	NC_000011.10:g.126017163A>T	TOPMed
CDON	Q4KMG0	p.Gly286Arg	rs752716771	missense variant	-	NC_000011.10:g.126017160C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Tyr288Cys	rs374762451	missense variant	-	NC_000011.10:g.126017153T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser289Phe	COSM3445007	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126017150G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser289Thr	rs1445263541	missense variant	-	NC_000011.10:g.126017151A>T	gnomAD
CDON	Q4KMG0	p.Ala292Thr	rs754752328	missense variant	-	NC_000011.10:g.126017142C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala292Val	rs751341846	missense variant	-	NC_000011.10:g.126017141G>A	ExAC,TOPMed
CDON	Q4KMG0	p.Gly293Glu	rs762706906	missense variant	-	NC_000011.10:g.126017138C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Asn294Ser	RCV000649536	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126017135T>C	ClinVar
CDON	Q4KMG0	p.Asn294Ser	rs749949944	missense variant	-	NC_000011.10:g.126017135T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp298Val	rs1306816183	missense variant	-	NC_000011.10:g.126017123T>A	TOPMed
CDON	Q4KMG0	p.Asp298Asn	rs762204286	missense variant	-	NC_000011.10:g.126017124C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Val299Ile	rs769078575	missense variant	-	NC_000011.10:g.126017121C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Val299Ala	rs980315790	missense variant	-	NC_000011.10:g.126017120A>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Lys300Ile	rs775849561	missense variant	-	NC_000011.10:g.126017117T>A	ExAC,gnomAD
CDON	Q4KMG0	p.Met305Val	rs772272581	missense variant	-	NC_000011.10:g.126017103T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Met305Ile	rs746152934	missense variant	-	NC_000011.10:g.126017101C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Asn307Ser	rs377698156	missense variant	-	NC_000011.10:g.126017096T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Leu309Phe	rs1486752391	missense variant	-	NC_000011.10:g.126017091G>A	gnomAD
CDON	Q4KMG0	p.Glu310Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126017088C>T	NCI-TCGA
CDON	Q4KMG0	p.His311Tyr	rs369439584	missense variant	-	NC_000011.10:g.126015508G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His311Asn	rs369439584	missense variant	-	NC_000011.10:g.126015508G>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala312Gly	rs150223422	missense variant	-	NC_000011.10:g.126015504G>C	ESP,ExAC,TOPMed
CDON	Q4KMG0	p.Ser313Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126015501G>A	NCI-TCGA
CDON	Q4KMG0	p.Lys316Glu	rs746984142	missense variant	-	NC_000011.10:g.126015493T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Lys316Thr	rs1363663627	missense variant	-	NC_000011.10:g.126015492T>G	gnomAD
CDON	Q4KMG0	p.Gln319Arg	rs758218377	missense variant	-	NC_000011.10:g.126015483T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Asp320Val	rs994484254	missense variant	-	NC_000011.10:g.126015480T>A	TOPMed
CDON	Q4KMG0	p.Ile322Val	rs745689234	missense variant	-	NC_000011.10:g.126015475T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Val323Ala	rs1406987164	missense variant	-	NC_000011.10:g.126015471A>G	TOPMed
CDON	Q4KMG0	p.Ser324Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126015468G>T	NCI-TCGA
CDON	Q4KMG0	p.Leu325Val	rs778563956	missense variant	-	NC_000011.10:g.126015466G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly326Cys	rs1205001369	missense variant	-	NC_000011.10:g.126015463C>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Gly326Ser	rs1205001369	missense variant	-	NC_000011.10:g.126015463C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Ala327Asp	rs1367640562	missense variant	-	NC_000011.10:g.126015459G>T	gnomAD
CDON	Q4KMG0	p.Thr328Ile	rs897565171	missense variant	-	NC_000011.10:g.126015456G>A	TOPMed
CDON	Q4KMG0	p.Thr328Ile	RCV000479834	missense variant	-	NC_000011.10:g.126015456G>A	ClinVar
CDON	Q4KMG0	p.Val329Leu	rs756878197	missense variant	-	NC_000011.10:g.126015454C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His330Arg	rs1421958761	missense variant	-	NC_000011.10:g.126015450T>C	gnomAD
CDON	Q4KMG0	p.Thr332Ile	rs200256793	missense variant	-	NC_000011.10:g.126015444G>A	1000Genomes
CDON	Q4KMG0	p.Asp334Gly	rs1287450549	missense variant	-	NC_000011.10:g.126015438T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Asp334Asn	rs571859031	missense variant	-	NC_000011.10:g.126015439C>T	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Asp334His	RCV000407731	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126015439C>G	ClinVar
CDON	Q4KMG0	p.Asp334His	rs571859031	missense variant	-	NC_000011.10:g.126015439C>G	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Val335Ile	rs768030484	missense variant	-	NC_000011.10:g.126015436C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val335Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126015435A>G	NCI-TCGA
CDON	Q4KMG0	p.Val335Leu	rs768030484	missense variant	-	NC_000011.10:g.126015436C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His336Tyr	rs1308825452	missense variant	-	NC_000011.10:g.126015433G>A	gnomAD
CDON	Q4KMG0	p.His336Arg	rs774702488	missense variant	-	NC_000011.10:g.126015432T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Pro339Ser	COSM4942112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126015424G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Asn342Ser	rs140975280	missense variant	-	NC_000011.10:g.126015414T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn342Ile	rs140975280	missense variant	-	NC_000011.10:g.126015414T>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Cys343Ser	rs1237984326	missense variant	-	NC_000011.10:g.126015411C>G	gnomAD
CDON	Q4KMG0	p.Thr344Ser	rs935981654	missense variant	-	NC_000011.10:g.126015408G>C	gnomAD
CDON	Q4KMG0	p.Thr344Ile	rs935981654	missense variant	-	NC_000011.10:g.126015408G>A	gnomAD
CDON	Q4KMG0	p.Thr344Ser	rs1373287119	missense variant	-	NC_000011.10:g.126015409T>A	gnomAD
CDON	Q4KMG0	p.His347Gln	rs201963480	missense variant	-	NC_000011.10:g.126015398G>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn348Asp	rs769815320	missense variant	-	NC_000011.10:g.126015397T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Asn348Ser	rs1348564968	missense variant	-	NC_000011.10:g.126015396T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ala349Thr	rs1463338446	missense variant	-	NC_000011.10:g.126015394C>T	gnomAD
CDON	Q4KMG0	p.Pro351Thr	rs35665264	missense variant	-	NC_000011.10:g.126015388G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro351Ala	rs35665264	missense variant	-	NC_000011.10:g.126015388G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro351Leu	rs1186988592	missense variant	-	NC_000011.10:g.126015387G>A	TOPMed
CDON	Q4KMG0	p.Pro351Ala	RCV000346366	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126015388G>C	ClinVar
CDON	Q4KMG0	p.Ile352Val	rs775528534	missense variant	-	NC_000011.10:g.126015385T>C	ExAC,gnomAD
CDON	Q4KMG0	p.His353Tyr	rs772141487	missense variant	-	NC_000011.10:g.126015382G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro354Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126015379G>A	NCI-TCGA
CDON	Q4KMG0	p.Ser355Tyr	rs1434219698	missense variant	-	NC_000011.10:g.126015375G>T	gnomAD
CDON	Q4KMG0	p.Arg357Gln	rs748937290	missense variant	-	NC_000011.10:g.126015369C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg357Ter	rs200614048	stop gained	-	NC_000011.10:g.126015370G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His358Leu	rs777312776	missense variant	-	NC_000011.10:g.126015366T>A	ExAC,gnomAD
CDON	Q4KMG0	p.His358Tyr	rs567489513	missense variant	-	NC_000011.10:g.126015367G>A	1000Genomes,TOPMed,gnomAD
CDON	Q4KMG0	p.His358Arg	rs777312776	missense variant	-	NC_000011.10:g.126015366T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Gly362Arg	rs1339689361	missense variant	-	NC_000011.10:g.126015355C>T	gnomAD
CDON	Q4KMG0	p.Gly364Ala	rs1330383341	missense variant	-	NC_000011.10:g.126015348C>G	gnomAD
CDON	Q4KMG0	p.Gly364Arg	rs111947043	missense variant	-	NC_000011.10:g.126015349C>T	ESP,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser368Gly	rs373285253	missense variant	-	NC_000011.10:g.126015337T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly369Glu	rs781612618	missense variant	-	NC_000011.10:g.126015333C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Val370Ile	rs1373784893	missense variant	-	NC_000011.10:g.126015331C>T	gnomAD
CDON	Q4KMG0	p.Val375Phe	rs751905547	missense variant	-	NC_000011.10:g.126015316C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val375Ala	rs1368979819	missense variant	-	NC_000011.10:g.126015315A>G	gnomAD
CDON	Q4KMG0	p.Tyr378His	rs766718420	missense variant	-	NC_000011.10:g.126015307A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ala382Ser	rs765870698	missense variant	-	NC_000011.10:g.126015295C>A	TOPMed
CDON	Q4KMG0	p.Ala382Thr	rs765870698	missense variant	-	NC_000011.10:g.126015295C>T	TOPMed
CDON	Q4KMG0	p.Asp383Asn	rs763217129	missense variant	-	NC_000011.10:g.126015292C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Ile386Met	rs1481847684	missense variant	-	NC_000011.10:g.126015281A>C	gnomAD
CDON	Q4KMG0	p.Ile386Thr	rs761918589	missense variant	-	NC_000011.10:g.126015282A>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile386Val	rs765529282	missense variant	-	NC_000011.10:g.126015283T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Met389Ile	rs144902474	missense variant	-	NC_000011.10:g.126015272C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His390Tyr	rs1026069027	missense variant	-	NC_000011.10:g.126015271G>A	gnomAD
CDON	Q4KMG0	p.His390Leu	rs993611705	missense variant	-	NC_000011.10:g.126015270T>A	TOPMed,gnomAD
CDON	Q4KMG0	p.His390Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126015270T>C	NCI-TCGA
CDON	Q4KMG0	p.His390Pro	rs993611705	missense variant	-	NC_000011.10:g.126015270T>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Glu396Asp	rs145407952	missense variant	-	NC_000011.10:g.126015251T>G	1000Genomes
CDON	Q4KMG0	p.Asp400His	rs375026022	missense variant	-	NC_000011.10:g.126015241C>G	ESP,TOPMed
CDON	Q4KMG0	p.Asp400Glu	rs148411384	missense variant	-	NC_000011.10:g.126010693G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp400Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126010694T>C	NCI-TCGA
CDON	Q4KMG0	p.Gly401Ser	rs1203351055	missense variant	-	NC_000011.10:g.126010692C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Gly401Asp	rs1314016998	missense variant	-	NC_000011.10:g.126010691C>T	gnomAD
CDON	Q4KMG0	p.Gly402Arg	rs1486766592	missense variant	-	NC_000011.10:g.126010689C>T	TOPMed
CDON	Q4KMG0	p.Gly402Glu	rs771664940	missense variant	-	NC_000011.10:g.126010688C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Phe403Val	rs774955525	missense variant	-	NC_000011.10:g.126010686A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Phe403Ile	rs774955525	missense variant	-	NC_000011.10:g.126010686A>T	ExAC,gnomAD
CDON	Q4KMG0	p.Val406Ala	rs749603550	missense variant	-	NC_000011.10:g.126010676A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Val406Leu	rs771565069	missense variant	-	NC_000011.10:g.126010677C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val406Ile	rs771565069	missense variant	-	NC_000011.10:g.126010677C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile407Val	rs778337270	missense variant	-	NC_000011.10:g.126010674T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ile407Lys	rs769903081	missense variant	-	NC_000011.10:g.126010673A>T	ExAC,gnomAD
CDON	Q4KMG0	p.Ile407Leu	rs778337270	missense variant	-	NC_000011.10:g.126010674T>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ile408Asn	COSM3986020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126010670A>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Thr409Arg	rs748441570	missense variant	-	NC_000011.10:g.126010667G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr409Met	rs748441570	missense variant	-	NC_000011.10:g.126010667G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala410Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126010665C>T	NCI-TCGA
CDON	Q4KMG0	p.Pro411Ser	rs372823373	missense variant	-	NC_000011.10:g.126010662G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val412Leu	rs1410111649	missense variant	-	NC_000011.10:g.126010659C>G	gnomAD
CDON	Q4KMG0	p.Val412Ile	rs1410111649	missense variant	-	NC_000011.10:g.126010659C>T	gnomAD
CDON	Q4KMG0	p.Lys415Glu	rs1002410638	missense variant	-	NC_000011.10:g.126010650T>C	TOPMed
CDON	Q4KMG0	p.Val416Leu	rs199880115	missense variant	-	NC_000011.10:g.126010647C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala417Val	rs757244949	missense variant	-	NC_000011.10:g.126010643G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp418Val	rs753627841	missense variant	-	NC_000011.10:g.126010640T>A	ExAC,gnomAD
CDON	Q4KMG0	p.Asp418Val	RCV000291413	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126010640T>A	ClinVar
CDON	Q4KMG0	p.Gly419Arg	rs760225821	missense variant	-	NC_000011.10:g.126010638C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp420Glu	rs752350757	missense variant	-	NC_000011.10:g.126010633G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Phe421Val	rs1209540895	missense variant	-	NC_000011.10:g.126010632A>C	gnomAD
CDON	Q4KMG0	p.Asn427Ser	rs774008444	missense variant	-	NC_000011.10:g.126010613T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala428Thr	rs771548863	missense variant	-	NC_000011.10:g.126010611C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Ala428Val	rs571245166	missense variant	-	NC_000011.10:g.126010610G>A	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Ser429Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126010607C>T	NCI-TCGA
CDON	Q4KMG0	p.Pro432Leu	rs1284972415	missense variant	-	NC_000011.10:g.126010598G>A	TOPMed
CDON	Q4KMG0	p.Pro432Ser	rs1301709655	missense variant	-	NC_000011.10:g.126010599G>A	gnomAD
CDON	Q4KMG0	p.Val433Ala	rs1204931414	missense variant	-	NC_000011.10:g.126010595A>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Pro434Leu	rs770242229	missense variant	-	NC_000011.10:g.126010592G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val435Ala	rs1249172671	missense variant	-	NC_000011.10:g.126010589A>G	TOPMed
CDON	Q4KMG0	p.Arg437His	rs114866803	missense variant	-	NC_000011.10:g.126010583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg437Gly	rs372488329	missense variant	-	NC_000011.10:g.126010584G>C	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Arg437His	RCV000649537	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126010583C>T	ClinVar
CDON	Q4KMG0	p.Arg437Cys	rs372488329	missense variant	-	NC_000011.10:g.126010584G>A	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Trp438Arg	rs367936160	missense variant	-	NC_000011.10:g.126010581A>G	ESP
CDON	Q4KMG0	p.Tyr439Cys	rs1166680054	missense variant	-	NC_000011.10:g.126010577T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.His442Arg	rs1181291795	missense variant	-	NC_000011.10:g.126010568T>C	gnomAD
CDON	Q4KMG0	p.His442Asn	rs757158753	missense variant	-	NC_000011.10:g.126010569G>T	ExAC,gnomAD
CDON	Q4KMG0	p.Gly443Val	rs753825222	missense variant	-	NC_000011.10:g.126010565C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly443Glu	rs753825222	missense variant	-	NC_000011.10:g.126010565C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser447Arg	rs1040178465	missense variant	-	NC_000011.10:g.126010552G>C	TOPMed
CDON	Q4KMG0	p.Ser447Gly	rs923064231	missense variant	-	NC_000011.10:g.126010554T>C	TOPMed
CDON	Q4KMG0	p.His448Arg	rs1209875838	missense variant	-	NC_000011.10:g.126010550T>C	gnomAD
CDON	Q4KMG0	p.Pro449Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126010547G>A	NCI-TCGA
CDON	Q4KMG0	p.Leu453Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126010536G>T	NCI-TCGA
CDON	Q4KMG0	p.Ser455Leu	rs187095965	missense variant	-	NC_000011.10:g.126010529G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser455Trp	rs187095965	missense variant	-	NC_000011.10:g.126010529G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser455Ter	rs187095965	stop gained	-	NC_000011.10:g.126010529G>T	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg458Ter	rs754733084	stop gained	-	NC_000011.10:g.126010521G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Arg458Gly	rs754733084	missense variant	-	NC_000011.10:g.126010521G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Arg458Gln	rs751107295	missense variant	-	NC_000011.10:g.126010520C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser460Leu	rs1366700112	missense variant	-	NC_000011.10:g.126010514G>A	gnomAD
CDON	Q4KMG0	p.Ser463Pro	rs146002530	missense variant	-	NC_000011.10:g.126010506A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser463Thr	rs146002530	missense variant	-	NC_000011.10:g.126010506A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg464Ile	rs763530578	missense variant	-	NC_000011.10:g.126010502C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro465His	rs773719753	missense variant	-	NC_000011.10:g.126010499G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro465Leu	rs773719753	missense variant	-	NC_000011.10:g.126010499G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu466Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126010497C>T	NCI-TCGA
CDON	Q4KMG0	p.Leu470Arg	rs1458229102	missense variant	-	NC_000011.10:g.126010484A>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Pro472Arg	rs1234237156	missense variant	-	NC_000011.10:g.126010478G>C	TOPMed
CDON	Q4KMG0	p.Pro472Ala	RCV000331298	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126010479G>C	ClinVar
CDON	Q4KMG0	p.Pro472Ala	rs750020763	missense variant	-	NC_000011.10:g.126010479G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val473Ala	rs762180366	missense variant	-	NC_000011.10:g.126010475A>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr474Ter	rs1180763563	stop gained	-	NC_000011.10:g.126010471G>T	TOPMed
CDON	Q4KMG0	p.Tyr474Cys	rs776919255	missense variant	-	NC_000011.10:g.126010472T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Val476Ile	rs142603462	missense variant	-	NC_000011.10:g.126010467C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val476Leu	rs142603462	missense variant	-	NC_000011.10:g.126010467C>G	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Leu477Val	rs1165882926	missense variant	-	NC_000011.10:g.126010464G>C	TOPMed
CDON	Q4KMG0	p.Ser478TrpPheSerTerUnkUnk	COSM1352410	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.126010453_126010460AGCTTGGG>-	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Gln479Arg	rs775528700	missense variant	-	NC_000011.10:g.126010457T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Gln479Glu	rs1193229994	missense variant	-	NC_000011.10:g.126010458G>C	gnomAD
CDON	Q4KMG0	p.Ala480Val	rs138020239	missense variant	-	NC_000011.10:g.126010454G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala480Thr	rs1265265977	missense variant	-	NC_000011.10:g.126010455C>T	gnomAD
CDON	Q4KMG0	p.Gly481Val	rs745982695	missense variant	-	NC_000011.10:g.126010451C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser483Gly	rs1274678871	missense variant	-	NC_000011.10:g.126010446T>C	gnomAD
CDON	Q4KMG0	p.Ser483Arg	rs777704059	missense variant	-	NC_000011.10:g.126010444G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser483Arg	rs777704059	missense variant	-	NC_000011.10:g.126010444G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser484Cys	rs1002338849	missense variant	-	NC_000011.10:g.126010442G>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ser484Phe	rs1002338849	missense variant	-	NC_000011.10:g.126010442G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Leu485Phe	rs969585556	missense variant	-	NC_000011.10:g.126010440G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Leu485Val	rs969585556	missense variant	-	NC_000011.10:g.126010440G>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ile487Thr	rs747959185	missense variant	-	NC_000011.10:g.126010433A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ile487Val	rs756014069	missense variant	-	NC_000011.10:g.126010434T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Gln488His	rs754643422	missense variant	-	NC_000011.10:g.126010429C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Gln488Arg	rs377400617	missense variant	-	NC_000011.10:g.126010430T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala489Ser	rs1295277785	missense variant	-	NC_000011.10:g.126010428C>A	TOPMed
CDON	Q4KMG0	p.Val490Met	rs374438894	missense variant	-	NC_000011.10:g.126010425C>T	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Val490Leu	rs374438894	missense variant	-	NC_000011.10:g.126010425C>G	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Gln492Glu	rs1371468076	missense variant	-	NC_000011.10:g.126010419G>C	gnomAD
CDON	Q4KMG0	p.Glu493Asp	rs766151087	missense variant	-	NC_000011.10:g.126010414T>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His494Arg	rs757942170	missense variant	-	NC_000011.10:g.126010412T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ala495Val	rs749914707	missense variant	-	NC_000011.10:g.126010409G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly496Arg	rs777024756	missense variant	-	NC_000011.10:g.126010407C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Lys497Arg	rs1243162237	missense variant	-	NC_000011.10:g.126010403T>C	TOPMed
CDON	Q4KMG0	p.Ile499Val	rs61917837	missense variant	-	NC_000011.10:g.126010398T>C	TOPMed
CDON	Q4KMG0	p.Ile499Phe	rs61917837	missense variant	-	NC_000011.10:g.126010398T>A	TOPMed
CDON	Q4KMG0	p.Glu501Lys	rs761054118	missense variant	-	NC_000011.10:g.126010392C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala503Thr	rs866758290	missense variant	-	NC_000011.10:g.126010386C>T	gnomAD
CDON	Q4KMG0	p.Ala503Ser	rs866758290	missense variant	-	NC_000011.10:g.126010386C>A	gnomAD
CDON	Q4KMG0	p.Asn504Asp	rs377031654	missense variant	-	NC_000011.10:g.126010383T>C	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Glu505Asp	rs1475324966	missense variant	-	NC_000011.10:g.126010378T>A	TOPMed
CDON	Q4KMG0	p.His506Arg	rs565398022	missense variant	-	NC_000011.10:g.126010376T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly507Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126010373C>T	NCI-TCGA
CDON	Q4KMG0	p.Thr508Ile	rs745899080	missense variant	-	NC_000011.10:g.126010370G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala513Thr	rs769763689	missense variant	-	NC_000011.10:g.126010356C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Ala513Ser	rs769763689	missense variant	-	NC_000011.10:g.126010356C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Ala513Val	rs943175241	missense variant	-	NC_000011.10:g.126010355G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Ser514Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126010352G>C	NCI-TCGA
CDON	Q4KMG0	p.Leu515Phe	rs781110937	missense variant	-	NC_000011.10:g.126010350G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Met516Ile	rs754770034	missense variant	-	NC_000011.10:g.126010345C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val518Leu	rs1246011574	missense variant	-	NC_000011.10:g.126010341C>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Pro519Ser	rs776668606	missense variant	-	NC_000011.10:g.126006055G>A	ExAC
CDON	Q4KMG0	p.Pro519Leu	rs768719226	missense variant	-	NC_000011.10:g.126006054G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Phe520Ser	COSM267892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126006051A>G	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Thr524Arg	rs746787685	missense variant	-	NC_000011.10:g.126006039G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Glu527Gly	rs780062040	missense variant	-	NC_000011.10:g.126006030T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Thr528Ala	rs1465306548	missense variant	-	NC_000011.10:g.126006028T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Thr530Pro	rs771726023	missense variant	-	NC_000011.10:g.126006022T>G	ExAC,gnomAD
CDON	Q4KMG0	p.Leu531Phe	rs745557470	missense variant	-	NC_000011.10:g.126006019G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Leu531Ile	rs745557470	missense variant	-	NC_000011.10:g.126006019G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro532Ser	rs778651865	missense variant	-	NC_000011.10:g.126006016G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro532Ala	rs778651865	missense variant	-	NC_000011.10:g.126006016G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ala534Thr	rs756684503	missense variant	-	NC_000011.10:g.126006010C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala535Pro	rs76247998	missense variant	-	NC_000011.10:g.126006007C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala535Thr	RCV000317247	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126006007C>T	ClinVar
CDON	Q4KMG0	p.Ala535Thr	rs76247998	missense variant	-	NC_000011.10:g.126006007C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn537Lys	rs554834459	missense variant	-	NC_000011.10:g.126005999A>T	1000Genomes
CDON	Q4KMG0	p.Asp538Gly	rs753052423	missense variant	-	NC_000011.10:g.126005997T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp538Tyr	rs756667047	missense variant	-	NC_000011.10:g.126005998C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Asp539Val	rs1256972036	missense variant	-	NC_000011.10:g.126005994T>A	TOPMed
CDON	Q4KMG0	p.Arg540Thr	rs148304849	missense variant	-	NC_000011.10:g.126005991C>G	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg540Ile	rs148304849	missense variant	-	NC_000011.10:g.126005991C>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser541Arg	COSM3808727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126005989T>G	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Arg543Thr	rs751681498	missense variant	-	NC_000011.10:g.126005982C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Asp544Ala	rs1362581992	missense variant	-	NC_000011.10:g.126005979T>G	gnomAD
CDON	Q4KMG0	p.Leu551Pro	rs1382832847	missense variant	-	NC_000011.10:g.126005958A>G	gnomAD
CDON	Q4KMG0	p.Ser552Gly	rs886047977	missense variant	-	NC_000011.10:g.126005956T>C	-
CDON	Q4KMG0	p.Ser552Gly	RCV000262034	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126005956T>C	ClinVar
CDON	Q4KMG0	p.Pro555Leu	rs143213791	missense variant	-	NC_000011.10:g.126005946G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro555Ser	RCV000497604	missense variant	-	NC_000011.10:g.126005947G>A	ClinVar
CDON	Q4KMG0	p.Pro555Ser	rs1555124296	missense variant	-	NC_000011.10:g.126005947G>A	-
CDON	Q4KMG0	p.Val556Leu	rs149168182	missense variant	-	NC_000011.10:g.126005944C>G	1000Genomes,ESP,ExAC,TOPMed
CDON	Q4KMG0	p.His559GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.126005933_126005934insATGAAGTATAATT	NCI-TCGA
CDON	Q4KMG0	p.Pro560His	rs1253158165	missense variant	-	NC_000011.10:g.126005931G>T	gnomAD
CDON	Q4KMG0	p.Pro560Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126005931G>A	NCI-TCGA
CDON	Q4KMG0	p.Ser561Thr	rs538747187	missense variant	-	NC_000011.10:g.126005928C>G	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Val563Leu	rs758716448	missense variant	-	NC_000011.10:g.126005923C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu564Ala	rs933563819	missense variant	-	NC_000011.10:g.126005919T>G	TOPMed
CDON	Q4KMG0	p.Ala566Val	rs147062062	missense variant	-	NC_000011.10:g.126005913G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro567Ser	rs748787756	missense variant	-	NC_000011.10:g.126005911G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro567Leu	rs1343425576	missense variant	-	NC_000011.10:g.126005910G>A	gnomAD
CDON	Q4KMG0	p.Glu568Gln	rs777327604	missense variant	-	NC_000011.10:g.126005908C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Lys569Gln	rs1290533215	missense variant	-	NC_000011.10:g.126005905T>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Asn570Ile	rs1429327633	missense variant	-	NC_000011.10:g.126005901T>A	gnomAD
CDON	Q4KMG0	p.Ala571Thr	rs373603972	missense variant	-	NC_000011.10:g.126005899C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser572Asn	rs781732748	missense variant	-	NC_000011.10:g.126005895C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly573Val	rs766454242	missense variant	-	NC_000011.10:g.126005892C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Gly573Ser	rs751956950	missense variant	-	NC_000011.10:g.126005893C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser575Phe	rs758713160	missense variant	-	NC_000011.10:g.126005886G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro577Ser	rs145492265	missense variant	-	NC_000011.10:g.126005881G>A	-
CDON	Q4KMG0	p.Pro577His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126005880G>T	NCI-TCGA
CDON	Q4KMG0	p.Asp578Asn	rs750499517	missense variant	-	NC_000011.10:g.126005878C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala579Val	rs765455628	missense variant	-	NC_000011.10:g.126005874G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Ala579Asp	rs765455628	missense variant	-	NC_000011.10:g.126005874G>T	ExAC,gnomAD
CDON	Q4KMG0	p.Pro580Leu	rs1247017117	missense variant	-	NC_000011.10:g.126005871G>A	gnomAD
CDON	Q4KMG0	p.Pro580Ala	rs1421469485	missense variant	-	NC_000011.10:g.126005872G>C	TOPMed
CDON	Q4KMG0	p.Ile581Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126005867G>C	NCI-TCGA
CDON	Q4KMG0	p.Ile581Val	rs141782811	missense variant	-	NC_000011.10:g.126005869T>C	ESP,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile581Val	RCV000265457	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126005869T>C	ClinVar
CDON	Q4KMG0	p.Ile582Leu	rs775526308	missense variant	-	NC_000011.10:g.126005866T>A	ExAC,gnomAD
CDON	Q4KMG0	p.Ile582Val	rs775526308	missense variant	-	NC_000011.10:g.126005866T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Leu583Arg	rs1207635656	missense variant	-	NC_000011.10:g.126005862A>C	gnomAD
CDON	Q4KMG0	p.Pro585Leu	rs759191464	missense variant	-	NC_000011.10:g.126005856G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro586Leu	rs770489168	missense variant	-	NC_000011.10:g.126005853G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro586HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.126005853G>-	NCI-TCGA
CDON	Q4KMG0	p.Pro586Arg	rs770489168	missense variant	-	NC_000011.10:g.126005853G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro586Gln	rs770489168	missense variant	-	NC_000011.10:g.126005853G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gln587Arg	rs1436075469	missense variant	-	NC_000011.10:g.126005850T>C	TOPMed
CDON	Q4KMG0	p.His589Arg	rs921014963	missense variant	-	NC_000011.10:g.126005844T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Thr590Arg	rs1344081577	missense variant	-	NC_000011.10:g.126005841G>C	gnomAD
CDON	Q4KMG0	p.Pro591Ser	rs375889178	missense variant	-	NC_000011.10:g.126005839G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro591ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.126005839_126005840GT>-	NCI-TCGA
CDON	Q4KMG0	p.Pro591Thr	COSM4019082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126005839G>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Thr593Met	rs1410096982	missense variant	-	NC_000011.10:g.126005832G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr594Cys	rs781486713	missense variant	-	NC_000011.10:g.126005829T>C	ExAC
CDON	Q4KMG0	p.Asn595Lys	rs1326304047	missense variant	-	NC_000011.10:g.126005825G>T	gnomAD
CDON	Q4KMG0	p.Trp598Cys	rs755522931	missense variant	-	NC_000011.10:g.126005816C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ala600Thr	rs747322659	missense variant	-	NC_000011.10:g.126005812C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Gly601Val	rs780507127	missense variant	-	NC_000011.10:g.126005808C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Lys602Thr	rs758671282	missense variant	-	NC_000011.10:g.126005805T>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp603Gly	rs527875178	missense variant	-	NC_000011.10:g.126005802T>C	1000Genomes,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp603Val	rs527875178	missense variant	-	NC_000011.10:g.126005802T>A	1000Genomes,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly604Val	rs765585405	missense variant	-	NC_000011.10:g.126005799C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly604Asp	rs765585405	missense variant	-	NC_000011.10:g.126005799C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly605Val	rs1444575526	missense variant	-	NC_000011.10:g.126005796C>A	gnomAD
CDON	Q4KMG0	p.Ile608Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126005787A>G	NCI-TCGA
CDON	Q4KMG0	p.Asn609Ser	RCV000305269	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126005784T>C	ClinVar
CDON	Q4KMG0	p.Asn609Ser	rs756054017	missense variant	-	NC_000011.10:g.126005784T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn609Ser	RCV000525030	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126005784T>C	ClinVar
CDON	Q4KMG0	p.Ala610Thr	COSM924629	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126005782C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ala610Val	COSM3415657	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126005781G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ala610Gly	rs372854465	missense variant	-	NC_000011.10:g.126005781G>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr611Ter	rs983004629	stop gained	-	NC_000011.10:g.126005777G>T	gnomAD
CDON	Q4KMG0	p.Phe612Leu	rs1372194473	missense variant	-	NC_000011.10:g.126005776A>G	gnomAD
CDON	Q4KMG0	p.Tyr615Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126005767A>T	NCI-TCGA
CDON	Q4KMG0	p.Tyr615His	rs773989495	missense variant	-	NC_000011.10:g.126005767A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Arg616Gln	rs144938780	missense variant	-	NC_000011.10:g.126005763C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg616Gln	RCV000268824	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126005763C>T	ClinVar
CDON	Q4KMG0	p.Arg616Ter	COSM4761078	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.126005764G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Arg616Gly	rs766248827	missense variant	-	NC_000011.10:g.126005764G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp619His	RCV000308816	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126004073C>G	ClinVar
CDON	Q4KMG0	p.Asp619His	rs141081456	missense variant	-	NC_000011.10:g.126004073C>G	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp619His	RCV000512644	missense variant	-	NC_000011.10:g.126004073C>G	ClinVar
CDON	Q4KMG0	p.Asp620Gly	COSM924628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126004069T>C	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Val622Ile	rs375951997	missense variant	-	NC_000011.10:g.126004064C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly623Val	rs746219316	missense variant	-	NC_000011.10:g.126004060C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly623Asp	rs746219316	missense variant	-	NC_000011.10:g.126004060C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly623Ser	rs775997399	missense variant	-	NC_000011.10:g.126004061C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Met624Ile	COSM924627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126004056C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Met624Val	rs372269894	missense variant	-	NC_000011.10:g.126004058T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser627Arg	rs1359571603	missense variant	-	NC_000011.10:g.126004047G>T	gnomAD
CDON	Q4KMG0	p.Trp628Ter	rs151143280	stop gained	-	NC_000011.10:g.126004044C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His629Tyr	rs1208368356	missense variant	-	NC_000011.10:g.126004043G>A	TOPMed
CDON	Q4KMG0	p.Thr630Met	rs559379897	missense variant	-	NC_000011.10:g.126004039G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr630Arg	rs559379897	missense variant	-	NC_000011.10:g.126004039G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr630Met	RCV000390567	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126004039G>A	ClinVar
CDON	Q4KMG0	p.Thr630Ala	rs368328253	missense variant	-	NC_000011.10:g.126004040T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg632Gly	rs752726620	missense variant	-	NC_000011.10:g.126004034G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg632Ter	rs752726620	stop gained	-	NC_000011.10:g.126004034G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg632Gln	rs750112081	missense variant	-	NC_000011.10:g.126004033C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Val633Ala	rs1171697357	missense variant	-	NC_000011.10:g.126004030A>G	gnomAD
CDON	Q4KMG0	p.Ser636Asn	rs1225621619	missense variant	-	NC_000011.10:g.126004021C>T	gnomAD
CDON	Q4KMG0	p.Ser636Gly	rs758389908	missense variant	-	NC_000011.10:g.126004022T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn638Ser	rs750215136	missense variant	-	NC_000011.10:g.126004015T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Glu639Asp	rs998670367	missense variant	-	NC_000011.10:g.126004011C>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Leu640Phe	rs901658276	missense variant	-	NC_000011.10:g.126004010G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.His641Arg	rs761535678	missense variant	-	NC_000011.10:g.126004006T>C	ExAC,gnomAD
CDON	Q4KMG0	p.His641Pro	rs761535678	missense variant	-	NC_000011.10:g.126004006T>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ala643Ser	rs764945874	missense variant	-	NC_000011.10:g.126004001C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala643Thr	rs764945874	missense variant	-	NC_000011.10:g.126004001C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu644Gln	rs970284479	missense variant	-	NC_000011.10:g.126003998C>G	TOPMed
CDON	Q4KMG0	p.Glu644Gly	rs1305726788	missense variant	-	NC_000011.10:g.126003997T>C	gnomAD
CDON	Q4KMG0	p.Pro647Leu	rs200961603	missense variant	-	NC_000011.10:g.126003988G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro647Leu	RCV000348456	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126003988G>A	ClinVar
CDON	Q4KMG0	p.Ser648Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126003985G>T	NCI-TCGA
CDON	Q4KMG0	p.Ser649Asn	rs573535706	missense variant	-	NC_000011.10:g.126003982C>T	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Tyr651His	rs372079041	missense variant	-	NC_000011.10:g.126003977A>G	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu652Asp	rs1555123650	missense variant	-	NC_000011.10:g.126003972T>G	-
CDON	Q4KMG0	p.Glu652Asp	RCV000624071	missense variant	Inborn genetic diseases	NC_000011.10:g.126003972T>G	ClinVar
CDON	Q4KMG0	p.Leu654Ser	rs774838876	missense variant	-	NC_000011.10:g.126003967A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Met655Ile	COSM74108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126003963C>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser659Arg	rs563267429	missense variant	-	NC_000011.10:g.126003951G>C	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala660Thr	rs773419494	missense variant	-	NC_000011.10:g.126003950C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala661Glu	rs762024254	missense variant	-	NC_000011.10:g.126003946G>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Ala661Thr	rs769923805	missense variant	-	NC_000011.10:g.126003947C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly662Asp	rs748247627	missense variant	-	NC_000011.10:g.126003943C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Glu663Asp	rs368177231	missense variant	-	NC_000011.10:g.126003939T>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gln665His	rs745756890	missense variant	-	NC_000011.10:g.126003933T>G	ExAC,gnomAD
CDON	Q4KMG0	p.Met668Arg	rs1036869171	missense variant	-	NC_000011.10:g.126003925A>C	TOPMed
CDON	Q4KMG0	p.Met668Val	rs1250566640	missense variant	-	NC_000011.10:g.126003926T>C	gnomAD
CDON	Q4KMG0	p.Arg672Gln	rs1257675312	missense variant	-	NC_000011.10:g.126003913C>T	gnomAD
CDON	Q4KMG0	p.Arg672Ter	rs778852790	stop gained	-	NC_000011.10:g.126003914G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Lys675Arg	rs757008392	missense variant	-	NC_000011.10:g.126003904T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr678Ala	rs777466382	missense variant	-	NC_000011.10:g.126001845T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Thr678AsnPheSerTerUnkUnk	rs768236792	frameshift	-	NC_000011.10:g.126001844_126001845insT	NCI-TCGA
CDON	Q4KMG0	p.Ala679Glu	rs201628624	missense variant	-	NC_000011.10:g.126001841G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala679Val	rs201628624	missense variant	-	NC_000011.10:g.126001841G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser680Leu	rs768098647	missense variant	-	NC_000011.10:g.126001838G>A	gnomAD
CDON	Q4KMG0	p.Lys682Glu	rs1262216195	missense variant	-	NC_000011.10:g.126001833T>C	TOPMed
CDON	Q4KMG0	p.Thr684Ser	rs145983470	missense variant	-	NC_000011.10:g.126001826G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr684Ser	RCV000514212	missense variant	-	NC_000011.10:g.126001826G>C	ClinVar
CDON	Q4KMG0	p.Thr684Ser	RCV000279045	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126001826G>C	ClinVar
CDON	Q4KMG0	p.Ala686Val	rs12274923	missense variant	-	NC_000011.10:g.126001820G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala686Ser	rs572486967	missense variant	-	NC_000011.10:g.126001821C>A	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Ala686Val	RCV000373562	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126001820G>A	ClinVar
CDON	Q4KMG0	p.Ala686Thr	rs572486967	missense variant	-	NC_000011.10:g.126001821C>T	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Ser688Cys	rs762195487	missense variant	-	NC_000011.10:g.126001814G>C	ExAC
CDON	Q4KMG0	p.Pro689Ala	rs387906995	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.126001812G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro689Ser	rs387906995	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.126001812G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro689Leu	rs768877366	missense variant	-	NC_000011.10:g.126001811G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro689Ala	rs387906995	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.126001812G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro689Ala	rs387906995	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126001812G>C	UniProt,dbSNP
CDON	Q4KMG0	p.Pro689Ala	VAR_066498	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126001812G>C	UniProt
CDON	Q4KMG0	p.Pro689Ala	RCV000419072	missense variant	-	NC_000011.10:g.126001812G>C	ClinVar
CDON	Q4KMG0	p.Pro690Leu	rs760729204	missense variant	-	NC_000011.10:g.126001808G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val691Ala	rs1358889341	missense variant	-	NC_000011.10:g.126001805A>G	gnomAD
CDON	Q4KMG0	p.Val691Met	rs139323558	missense variant	-	NC_000011.10:g.126001806C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val691Met	rs139323558	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126001806C>T	UniProt,dbSNP
CDON	Q4KMG0	p.Val691Met	VAR_066499	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126001806C>T	UniProt
CDON	Q4KMG0	p.Val691Leu	rs139323558	missense variant	-	NC_000011.10:g.126001806C>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly692Ser	rs986863818	missense variant	-	NC_000011.10:g.126001803C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Gly692Ala	rs777784202	missense variant	-	NC_000011.10:g.126001802C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ile693Val	rs199733746	missense variant	-	NC_000011.10:g.126001800T>C	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Ile693Met	rs1428947026	missense variant	-	NC_000011.10:g.126001798G>C	TOPMed
CDON	Q4KMG0	p.Lys695Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126001793T>C	NCI-TCGA
CDON	Q4KMG0	p.Pro697Leu	rs374674635	missense variant	-	NC_000011.10:g.126001787G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro697Thr	rs1380130469	missense variant	-	NC_000011.10:g.126001788G>T	gnomAD
CDON	Q4KMG0	p.Val698Ile	rs540592065	missense variant	-	NC_000011.10:g.126001785C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Ser700Ala	rs1382929875	missense variant	-	NC_000011.10:g.126001779A>C	gnomAD
CDON	Q4KMG0	p.Glu701Gln	COSM428653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126001776C>G	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Glu701Gly	rs1407414110	missense variant	-	NC_000011.10:g.126001775T>C	gnomAD
CDON	Q4KMG0	p.Ala703Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126001769G>A	NCI-TCGA
CDON	Q4KMG0	p.Asn705Ser	rs200695470	missense variant	-	NC_000011.10:g.126001763T>C	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Asn706Ser	rs758917619	missense variant	-	NC_000011.10:g.126001760T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Asn706Asp	rs1343553572	missense variant	-	NC_000011.10:g.126001761T>C	TOPMed
CDON	Q4KMG0	p.Phe707Leu	rs1190758159	missense variant	-	NC_000011.10:g.126001758A>G	gnomAD
CDON	Q4KMG0	p.Val709Met	rs1445436822	missense variant	-	NC_000011.10:g.126001752C>T	gnomAD
CDON	Q4KMG0	p.Val710Leu	rs765777189	missense variant	-	NC_000011.10:g.126001749C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val710Ile	rs765777189	missense variant	-	NC_000011.10:g.126001749C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Leu711Ile	rs1223588811	missense variant	-	NC_000011.10:g.126001746G>T	gnomAD
CDON	Q4KMG0	p.Thr712Ala	rs754257431	missense variant	-	NC_000011.10:g.126001743T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp713Tyr	rs764292682	missense variant	-	NC_000011.10:g.126001740C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Asp713Gly	rs1340727055	missense variant	-	NC_000011.10:g.126001739T>C	gnomAD
CDON	Q4KMG0	p.Ser715Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126001733G>A	NCI-TCGA
CDON	Q4KMG0	p.Ser715Cys	rs775613302	missense variant	-	NC_000011.10:g.126001733G>C	ExAC,gnomAD
CDON	Q4KMG0	p.His717Tyr	rs771993207	missense variant	-	NC_000011.10:g.126001728G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly719Arg	rs759696165	missense variant	-	NC_000011.10:g.126001722C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Val720Leu	rs772960620	missense variant	-	NC_000011.10:g.126001719C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Val720Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.126001719C>T	NCI-TCGA
CDON	Q4KMG0	p.Pro721Leu	COSM3445006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125997407G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Pro721Ala	rs1344550777	missense variant	-	NC_000011.10:g.125997408G>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ala723Thr	rs1469425757	missense variant	-	NC_000011.10:g.125997402C>T	gnomAD
CDON	Q4KMG0	p.Arg726Gln	rs761883698	missense variant	-	NC_000011.10:g.125997392C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg726Gly	rs760702944	missense variant	-	NC_000011.10:g.125997393G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg726Trp	rs760702944	missense variant	-	NC_000011.10:g.125997393G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg726Gln	rs761883698	missense variant	-	NC_000011.10:g.125997392C>T	NCI-TCGA
CDON	Q4KMG0	p.Pro727Leu	rs1470552665	missense variant	-	NC_000011.10:g.125997389G>A	gnomAD
CDON	Q4KMG0	p.Ser730Phe	COSM924625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125997380G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Thr731Ala	rs776547693	missense variant	-	NC_000011.10:g.125997378T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr731Pro	rs776547693	missense variant	-	NC_000011.10:g.125997378T>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr731Ile	rs1306843025	missense variant	-	NC_000011.10:g.125997377G>A	TOPMed
CDON	Q4KMG0	p.Thr731Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125997378T>A	NCI-TCGA
CDON	Q4KMG0	p.Thr735Ala	rs746853510	missense variant	-	NC_000011.10:g.125997366T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Tyr738Cys	rs149325046	missense variant	-	NC_000011.10:g.125997356T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr738Ser	rs149325046	missense variant	-	NC_000011.10:g.125997356T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr738Cys	rs149325046	missense variant	-	NC_000011.10:g.125997356T>C	NCI-TCGA
CDON	Q4KMG0	p.Pro743Ser	rs1475911989	missense variant	-	NC_000011.10:g.125997342G>A	TOPMed
CDON	Q4KMG0	p.Arg744Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125997338C>T	NCI-TCGA
CDON	Q4KMG0	p.Arg744Trp	rs953453508	missense variant	-	NC_000011.10:g.125997339G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Arg744Trp	rs953453508	missense variant	-	NC_000011.10:g.125997339G>A	NCI-TCGA
CDON	Q4KMG0	p.Gly747Arg	RCV000377098	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125997330C>T	ClinVar
CDON	Q4KMG0	p.Gly747Arg	rs745363657	missense variant	-	NC_000011.10:g.125997330C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly748Ser	rs1433190946	missense variant	-	NC_000011.10:g.125997327C>T	TOPMed
CDON	Q4KMG0	p.Gly748Val	rs1454472731	missense variant	-	NC_000011.10:g.125997326C>A	gnomAD
CDON	Q4KMG0	p.Ser749Phe	rs757737281	missense variant	-	NC_000011.10:g.125997323G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro750Ala	rs749742672	missense variant	-	NC_000011.10:g.125997321G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro750Ala	rs749742672	missense variant	-	NC_000011.10:g.125997321G>C	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ile751Val	rs1356261423	missense variant	-	NC_000011.10:g.125997318T>C	TOPMed
CDON	Q4KMG0	p.Ala753Val	rs1450375488	missense variant	-	NC_000011.10:g.125997311G>A	TOPMed
CDON	Q4KMG0	p.Ala753Thr	COSM686486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125997312C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Lys755Arg	rs138625022	missense variant	-	NC_000011.10:g.125997305T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu757Lys	rs753123435	missense variant	-	NC_000011.10:g.125997300C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Glu757Gly	rs1407292760	missense variant	-	NC_000011.10:g.125997299T>C	gnomAD
CDON	Q4KMG0	p.Glu757Lys	rs753123435	missense variant	-	NC_000011.10:g.125997300C>T	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.Arg760Leu	rs150587299	missense variant	-	NC_000011.10:g.125997290C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg760Trp	rs551721918	missense variant	-	NC_000011.10:g.125997291G>A	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.Arg760Trp	rs551721918	missense variant	-	NC_000011.10:g.125997291G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg760Gln	rs150587299	missense variant	-	NC_000011.10:g.125997290C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg760Gln	RCV000322489	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125997290C>T	ClinVar
CDON	Q4KMG0	p.Arg762Gly	rs1430059449	missense variant	-	NC_000011.10:g.125997285T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Asn765Ser	rs370444323	missense variant	-	NC_000011.10:g.125997275T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn765Thr	rs370444323	missense variant	-	NC_000011.10:g.125997275T>G	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Trp766Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125997271C>A	NCI-TCGA
CDON	Q4KMG0	p.Leu767Pro	rs760373405	missense variant	-	NC_000011.10:g.125997269A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ala769Val	rs543354699	missense variant	-	NC_000011.10:g.125997263G>A	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Asp772Tyr	rs1281443862	missense variant	-	NC_000011.10:g.125997255C>A	gnomAD
CDON	Q4KMG0	p.Pro774Leu	rs574338071	missense variant	-	NC_000011.10:g.125997248G>A	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Pro775Ser	rs1314291903	missense variant	-	NC_000011.10:g.125997246G>A	gnomAD
CDON	Q4KMG0	p.Lys777Thr	rs189366163	missense variant	-	NC_000011.10:g.125997239T>G	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Leu778Phe	rs1363794035	missense variant	-	NC_000011.10:g.125997237G>A	gnomAD
CDON	Q4KMG0	p.Ser779Leu	rs748797944	missense variant	-	NC_000011.10:g.125997233G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Ser779Ala	rs201530015	missense variant	-	NC_000011.10:g.125997234A>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Val780Met	rs1431664406	missense variant	-	NC_000011.10:g.125997231C>T	gnomAD
CDON	Q4KMG0	p.Val780Glu	rs387906996	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125997230A>T	UniProt,dbSNP
CDON	Q4KMG0	p.Val780Glu	VAR_066500	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125997230A>T	UniProt
CDON	Q4KMG0	p.Val780Glu	rs387906996	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.125997230A>T	-
CDON	Q4KMG0	p.Val780Glu	RCV000023727	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125997230A>T	ClinVar
CDON	Q4KMG0	p.Glu781Gly	rs1232131999	missense variant	-	NC_000011.10:g.125997227T>C	gnomAD
CDON	Q4KMG0	p.Glu781Asp	rs543829254	missense variant	-	NC_000011.10:g.125997226T>G	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Val782Ile	rs1182235163	missense variant	-	NC_000011.10:g.125997225C>T	gnomAD
CDON	Q4KMG0	p.Val782Ile	rs1182235163	missense variant	-	NC_000011.10:g.125997225C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Arg783His	rs748459324	missense variant	-	NC_000011.10:g.125997221C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg783Ser	rs756707042	missense variant	-	NC_000011.10:g.125997222G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg783Cys	rs756707042	missense variant	-	NC_000011.10:g.125997222G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg783Cys	rs756707042	missense variant	-	NC_000011.10:g.125997222G>A	NCI-TCGA
CDON	Q4KMG0	p.Ser784Ile	rs1385981974	missense variant	-	NC_000011.10:g.125997218C>A	gnomAD
CDON	Q4KMG0	p.Ser784Arg	rs1452965952	missense variant	-	NC_000011.10:g.125997217A>C	TOPMed
CDON	Q4KMG0	p.Pro787Leu	rs1266955578	missense variant	-	NC_000011.10:g.125997209G>A	gnomAD
CDON	Q4KMG0	p.Gly788Asp	rs1251809206	missense variant	-	NC_000011.10:g.125995052C>T	gnomAD
CDON	Q4KMG0	p.Gly788Cys	COSM924622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125997207C>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Thr790Ala	rs387906997	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.125995047T>C	-
CDON	Q4KMG0	p.Thr790Ala	rs387906997	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125995047T>C	UniProt,dbSNP
CDON	Q4KMG0	p.Thr790Ala	VAR_066501	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125995047T>C	UniProt
CDON	Q4KMG0	p.Thr790Ala	RCV000023728	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125995047T>C	ClinVar
CDON	Q4KMG0	p.Lys792Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125995040T>G	NCI-TCGA
CDON	Q4KMG0	p.Arg794Thr	rs751416426	missense variant	-	NC_000011.10:g.125995034C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Val795Ile	rs148081735	missense variant	-	NC_000011.10:g.125995032C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile798Val	RCV000267461	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125995023T>C	ClinVar
CDON	Q4KMG0	p.Ile798Val	rs142919781	missense variant	-	NC_000011.10:g.125995023T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr801His	rs376660029	missense variant	-	NC_000011.10:g.125995014A>G	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Tyr801Ter	rs777130955	stop gained	-	NC_000011.10:g.125995012A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Glu803Val	rs1264864868	missense variant	-	NC_000011.10:g.125995007T>A	TOPMed
CDON	Q4KMG0	p.Glu803Lys	rs1204227048	missense variant	-	NC_000011.10:g.125995008C>T	TOPMed
CDON	Q4KMG0	p.Ser804Gly	rs769058132	missense variant	-	NC_000011.10:g.125995005T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg806Trp	rs141611214	missense variant	-	NC_000011.10:g.125994999G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg806Trp	rs141611214	missense variant	-	NC_000011.10:g.125994999G>A	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.Arg806Gln	rs139263823	missense variant	-	NC_000011.10:g.125994998C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser807Asn	rs772400268	missense variant	-	NC_000011.10:g.125994995C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser808Leu	rs1428144415	missense variant	-	NC_000011.10:g.125994992G>A	gnomAD
CDON	Q4KMG0	p.Ala809Val	rs1196247219	missense variant	-	NC_000011.10:g.125994989G>A	TOPMed
CDON	Q4KMG0	p.Ser810Cys	rs746038393	missense variant	-	NC_000011.10:g.125994986G>C	ExAC
CDON	Q4KMG0	p.Ser810Cys	RCV000380663	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125994986G>C	ClinVar
CDON	Q4KMG0	p.Arg811Cys	rs201985321	missense variant	-	NC_000011.10:g.125994984G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg811His	rs200008378	missense variant	-	NC_000011.10:g.125994983C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg811Leu	rs200008378	missense variant	-	NC_000011.10:g.125994983C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg811Cys	rs201985321	missense variant	-	NC_000011.10:g.125994984G>A	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.Pro812Ser	rs781179839	missense variant	-	NC_000011.10:g.125994981G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Gln814His	rs200964802	missense variant	-	NC_000011.10:g.125994973T>G	1000Genomes
CDON	Q4KMG0	p.Gln814Arg	rs1555120762	missense variant	-	NC_000011.10:g.125994974T>C	-
CDON	Q4KMG0	p.Gln814Arg	RCV000521038	missense variant	-	NC_000011.10:g.125994974T>C	ClinVar
CDON	Q4KMG0	p.Gln814Glu	rs754978385	missense variant	-	NC_000011.10:g.125994975G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly817Glu	rs751328564	missense variant	-	NC_000011.10:g.125994965C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly817Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125994965C>A	NCI-TCGA
CDON	Q4KMG0	p.Phe818Leu	rs148568229	missense variant	-	NC_000011.10:g.125994963A>G	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Pro819Ser	rs758213416	missense variant	-	NC_000011.10:g.125994960G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Asn820Ser	rs750052531	missense variant	-	NC_000011.10:g.125994956T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg821His	rs146660717	missense variant	-	NC_000011.10:g.125994953C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg821His	RCV000326017	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125994953C>T	ClinVar
CDON	Q4KMG0	p.Arg821Gly	rs764804321	missense variant	-	NC_000011.10:g.125994954G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Phe822Leu	rs899917482	missense variant	-	NC_000011.10:g.125994951A>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Phe822Ser	rs776069698	missense variant	-	NC_000011.10:g.125994950A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ser823Ala	rs764628885	missense variant	-	NC_000011.10:g.125994948A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ser824Thr	rs761313325	missense variant	-	NC_000011.10:g.125994944C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Arg825His	rs369829411	missense variant	-	NC_000011.10:g.125994941C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg825Cys	rs1017033855	missense variant	-	NC_000011.10:g.125994942G>A	TOPMed
CDON	Q4KMG0	p.Ile827Val	rs772521968	missense variant	-	NC_000011.10:g.125994936T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr828Ser	rs1326959746	missense variant	-	NC_000011.10:g.125994933T>A	TOPMed
CDON	Q4KMG0	p.Gly829Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.125994930C>A	NCI-TCGA
CDON	Q4KMG0	p.Pro830Ser	rs1261115177	missense variant	-	NC_000011.10:g.125994927G>A	TOPMed
CDON	Q4KMG0	p.His831Tyr	rs746235628	missense variant	-	NC_000011.10:g.125994924G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His831Arg	rs751093304	missense variant	-	NC_000011.10:g.125994923T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile832Met	rs1437685247	missense variant	-	NC_000011.10:g.125994919A>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ile832Val	rs1157738332	missense variant	-	NC_000011.10:g.125994921T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ala833Val	rs1387000919	missense variant	-	NC_000011.10:g.125994917G>A	gnomAD
CDON	Q4KMG0	p.Tyr834Cys	rs749385605	missense variant	-	NC_000011.10:g.125994914T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Tyr834Ter	rs777758697	stop gained	-	NC_000011.10:g.125994913G>T	ExAC,TOPMed
CDON	Q4KMG0	p.Ala837Val	rs754891752	missense variant	-	NC_000011.10:g.125994905G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Val838Ile	rs1198900154	missense variant	-	NC_000011.10:g.125994903C>T	gnomAD
CDON	Q4KMG0	p.Asp840Asn	rs369440912	missense variant	-	NC_000011.10:g.125994897C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp840Asn	rs369440912	missense variant	-	NC_000011.10:g.125994897C>T	NCI-TCGA
CDON	Q4KMG0	p.Thr841Asn	rs1351655072	missense variant	-	NC_000011.10:g.125994893G>T	gnomAD
CDON	Q4KMG0	p.Ile843Thr	rs1247426233	missense variant	-	NC_000011.10:g.125994887A>G	gnomAD
CDON	Q4KMG0	p.Met844Thr	rs1382423176	missense variant	-	NC_000011.10:g.125994884A>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Trp847Leu	rs756898823	missense variant	-	NC_000011.10:g.125994875C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Trp847Gly	rs1383518501	missense variant	-	NC_000011.10:g.125994876A>C	gnomAD
CDON	Q4KMG0	p.Thr848Met	rs753364775	missense variant	-	NC_000011.10:g.125994872G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr848Arg	rs753364775	missense variant	-	NC_000011.10:g.125994872G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr849Ser	rs752311033	missense variant	-	NC_000011.10:g.125994388T>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr849Cys	rs752311033	missense variant	-	NC_000011.10:g.125994388T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile850Val	rs1288313367	missense variant	-	NC_000011.10:g.125994386T>C	gnomAD
CDON	Q4KMG0	p.Ile850Ser	rs1198148809	missense variant	-	NC_000011.10:g.125994385A>C	gnomAD
CDON	Q4KMG0	p.Pro851Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125994383G>A	NCI-TCGA
CDON	Q4KMG0	p.Asn854Ile	COSM4019079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125994373T>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Asn855Ser	rs1340478648	missense variant	-	NC_000011.10:g.125994370T>C	gnomAD
CDON	Q4KMG0	p.Asn856Ser	rs768131084	missense variant	-	NC_000011.10:g.125994367T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr857Ile	COSM686487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125994364G>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ile859Thr	rs760005022	missense variant	-	NC_000011.10:g.125994358A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Phe862Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125994348A>C	NCI-TCGA
CDON	Q4KMG0	p.Tyr863His	rs1347039743	missense variant	-	NC_000011.10:g.125994347A>G	gnomAD
CDON	Q4KMG0	p.Tyr863Cys	rs367731400	missense variant	-	NC_000011.10:g.125994346T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr865Cys	rs955974841	missense variant	-	NC_000011.10:g.125994340T>C	gnomAD
CDON	Q4KMG0	p.Tyr865Ter	rs766607815	stop gained	-	NC_000011.10:g.125994339A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Tyr866Asn	rs763410611	missense variant	-	NC_000011.10:g.125994338A>T	ExAC,gnomAD
CDON	Q4KMG0	p.Tyr866Ser	rs773356583	missense variant	-	NC_000011.10:g.125994337T>G	ExAC,gnomAD
CDON	Q4KMG0	p.Arg867Ter	rs374454562	stop gained	-	NC_000011.10:g.125994335G>A	ESP,ExAC,TOPMed
CDON	Q4KMG0	p.Arg867Gln	COSM3383301	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125994334C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Asp870Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125994326C>T	NCI-TCGA
CDON	Q4KMG0	p.Asp870Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125994326C>A	NCI-TCGA
CDON	Q4KMG0	p.Ser871Gly	rs1168313371	missense variant	-	NC_000011.10:g.125994323T>C	gnomAD
CDON	Q4KMG0	p.Asn873Lys	rs772022299	missense variant	-	NC_000011.10:g.125994315A>T	ExAC,gnomAD
CDON	Q4KMG0	p.Asn873Ser	rs1431688439	missense variant	-	NC_000011.10:g.125994316T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Asp874Gly	rs745743030	missense variant	-	NC_000011.10:g.125994313T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ser875Asn	rs770564593	missense variant	-	NC_000011.10:g.125994310C>T	ExAC,TOPMed
CDON	Q4KMG0	p.Ser875Gly	rs115533243	missense variant	-	NC_000011.10:g.125994311T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser875ArgPheSerTerUnk	COSM272483	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.125994309A>-	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser875Gly	RCV000541610	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125994311T>C	ClinVar
CDON	Q4KMG0	p.Asp880Asn	rs777551303	missense variant	-	NC_000011.10:g.125994296C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Val882Ala	rs1403840602	missense variant	-	NC_000011.10:g.125994289A>G	TOPMed
CDON	Q4KMG0	p.Glu883Gln	rs1237908924	missense variant	-	NC_000011.10:g.125994287C>G	gnomAD
CDON	Q4KMG0	p.Glu883Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.125994287C>A	NCI-TCGA
CDON	Q4KMG0	p.Ser885Ter	COSM1200616	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.125989756G>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Gln887Arg	rs1383177646	missense variant	-	NC_000011.10:g.125989750T>C	gnomAD
CDON	Q4KMG0	p.Gln887Lys	rs781027083	missense variant	-	NC_000011.10:g.125989751G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Trp888Ter	rs372929321	stop gained	-	NC_000011.10:g.125989747C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr898Ile	rs1420346868	missense variant	-	NC_000011.10:g.125989717G>A	gnomAD
CDON	Q4KMG0	p.Ser899Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125989714G>C	NCI-TCGA
CDON	Q4KMG0	p.Asp901His	rs765534786	missense variant	-	NC_000011.10:g.125989709C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ile902Val	rs757647711	missense variant	-	NC_000011.10:g.125989706T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Lys903Ter	rs753991840	stop gained	-	NC_000011.10:g.125989703T>A	ExAC,gnomAD
CDON	Q4KMG0	p.Phe907Ser	rs200446204	missense variant	-	NC_000011.10:g.125989690A>G	1000Genomes
CDON	Q4KMG0	p.Asn908Ser	rs764389726	missense variant	-	NC_000011.10:g.125989687T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu909Lys	rs760653343	missense variant	-	NC_000011.10:g.125989685C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Glu909Ala	COSM1297791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125989684T>G	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Gly911Glu	rs775702968	missense variant	-	NC_000011.10:g.125989678C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Glu912Lys	rs1283279067	missense variant	-	NC_000011.10:g.125989676C>T	gnomAD
CDON	Q4KMG0	p.Ser913Gly	rs570513038	missense variant	-	NC_000011.10:g.125989673T>C	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Ser916Asn	rs1470087321	missense variant	-	NC_000011.10:g.125989663C>T	TOPMed
CDON	Q4KMG0	p.Met919Ile	COSM924621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125989653C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Cys921Arg	rs763031665	missense variant	-	NC_000011.10:g.125989649A>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu922Lys	rs769676286	missense variant	-	NC_000011.10:g.125989646C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Lys924Glu	rs747965171	missense variant	-	NC_000011.10:g.125989640T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg927Cys	rs773221507	missense variant	-	NC_000011.10:g.125984088G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg927His	rs374048433	missense variant	-	NC_000011.10:g.125984087C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg927Cys	rs773221507	missense variant	-	NC_000011.10:g.125984088G>A	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.Pro929Ala	rs761687534	missense variant	-	NC_000011.10:g.125984082G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Pro929Leu	rs1300177305	missense variant	-	NC_000011.10:g.125984081G>A	TOPMed
CDON	Q4KMG0	p.Ala931Val	rs768164724	missense variant	-	NC_000011.10:g.125984075G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro935Ala	rs771502239	missense variant	-	NC_000011.10:g.125984064G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Pro935Leu	rs886609844	missense variant	-	NC_000011.10:g.125984063G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Pro935Ser	rs771502239	missense variant	-	NC_000011.10:g.125984064G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Val936Ile	rs1275388799	missense variant	-	NC_000011.10:g.125984061C>T	TOPMed
CDON	Q4KMG0	p.Asp938Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125984055C>A	NCI-TCGA
CDON	Q4KMG0	p.Asp938Gly	rs745395683	missense variant	-	NC_000011.10:g.125984054T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ser940Arg	rs369673018	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125984049T>G	UniProt,dbSNP
CDON	Q4KMG0	p.Ser940Arg	VAR_066502	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125984049T>G	UniProt
CDON	Q4KMG0	p.Ser940Arg	rs369673018	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.125984049T>G	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser940Arg	RCV000023729	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125984049T>G	ClinVar
CDON	Q4KMG0	p.Thr941Ser	rs1221902416	missense variant	-	NC_000011.10:g.125984045G>C	TOPMed
CDON	Q4KMG0	p.Thr941Ala	COSM4019078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125984046T>C	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Pro942His	rs771490194	missense variant	-	NC_000011.10:g.125984042G>T	ExAC,gnomAD
CDON	Q4KMG0	p.Pro942Leu	rs771490194	missense variant	-	NC_000011.10:g.125984042G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro943Ser	rs1285041803	missense variant	-	NC_000011.10:g.125984040G>A	TOPMed
CDON	Q4KMG0	p.Ser945Tyr	COSM1200619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125984033G>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Leu946Ser	rs778246839	missense variant	-	NC_000011.10:g.125984030A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Gly947Arg	rs761948945	missense variant	-	NC_000011.10:g.125984028C>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Gly947Val	COSM924619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125984027C>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Gly947Arg	rs761948945	missense variant	-	NC_000011.10:g.125984028C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Ser948Arg	rs1446463345	missense variant	-	NC_000011.10:g.125984025T>G	gnomAD
CDON	Q4KMG0	p.Val952Gly	rs752927316	missense variant	-	NC_000011.10:g.125984012A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Val952Leu	rs756455658	missense variant	-	NC_000011.10:g.125984013C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val952Met	rs756455658	missense variant	-	NC_000011.10:g.125984013C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly953Arg	rs1198888749	missense variant	-	NC_000011.10:g.125984010C>T	TOPMed
CDON	Q4KMG0	p.Gly953Glu	rs781279453	missense variant	-	NC_000011.10:g.125984009C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Pro954LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.125984008C>-	NCI-TCGA
CDON	Q4KMG0	p.Ala955Gly	rs765261916	missense variant	-	NC_000011.10:g.125984003G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ser957Gly	rs146728346	missense variant	-	NC_000011.10:g.125983998T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala959Ser	rs1244762152	missense variant	-	NC_000011.10:g.125983992C>A	gnomAD
CDON	Q4KMG0	p.Met964Ile	rs1483718896	missense variant	-	NC_000011.10:g.125983975C>T	gnomAD
CDON	Q4KMG0	p.Tyr966His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125983971A>G	NCI-TCGA
CDON	Q4KMG0	p.Val969Ala	rs1388796133	missense variant	-	NC_000011.10:g.125983961A>G	TOPMed
CDON	Q4KMG0	p.Val969Ile	rs775148940	missense variant	-	NC_000011.10:g.125983962C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly974Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125983946C>T	NCI-TCGA
CDON	Q4KMG0	p.Val975Leu	rs113921147	missense variant	-	NC_000011.10:g.125983944C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val975Ile	rs113921147	missense variant	-	NC_000011.10:g.125983944C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val975Ile	rs113921147	missense variant	-	NC_000011.10:g.125983944C>T	NCI-TCGA
CDON	Q4KMG0	p.Val975Ile	RCV000649538	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125983944C>T	ClinVar
CDON	Q4KMG0	p.Val975Ala	rs1401028459	missense variant	-	NC_000011.10:g.125983943A>G	gnomAD
CDON	Q4KMG0	p.Met976Thr	rs937053308	missense variant	-	NC_000011.10:g.125983940A>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Val977Ile	rs771402208	missense variant	-	NC_000011.10:g.125983938C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Leu978Val	rs749752333	missense variant	-	NC_000011.10:g.125983935G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Leu978Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125983935G>A	NCI-TCGA
CDON	Q4KMG0	p.Leu978His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125983934A>T	NCI-TCGA
CDON	Q4KMG0	p.Ile979Val	rs1157915052	missense variant	-	NC_000011.10:g.125983932T>C	gnomAD
CDON	Q4KMG0	p.Met981Val	rs1437754919	missense variant	-	NC_000011.10:g.125983926T>C	gnomAD
CDON	Q4KMG0	p.Val982Ala	rs1386816918	missense variant	-	NC_000011.10:g.125983922A>G	gnomAD
CDON	Q4KMG0	p.Ile984Thr	rs1423078383	missense variant	-	NC_000011.10:g.125983916A>G	gnomAD
CDON	Q4KMG0	p.Ile984Val	rs778176823	missense variant	-	NC_000011.10:g.125983917T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ala985Pro	rs748475660	missense variant	-	NC_000011.10:g.125983914C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala985Thr	rs748475660	missense variant	-	NC_000011.10:g.125983914C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala985Val	rs1377373548	missense variant	-	NC_000011.10:g.125983913G>A	TOPMed
CDON	Q4KMG0	p.Cys987Ter	RCV000779051	frameshift	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125983907dup	ClinVar
CDON	Q4KMG0	p.Asn991Ser	rs781552387	missense variant	-	NC_000011.10:g.125983895T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Arg992Cys	rs1489303606	missense variant	-	NC_000011.10:g.125983893G>A	gnomAD
CDON	Q4KMG0	p.Arg992Leu	rs148664368	missense variant	-	NC_000011.10:g.125983892C>A	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Arg992His	rs148664368	missense variant	-	NC_000011.10:g.125983892C>T	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Arg992His	rs148664368	missense variant	-	NC_000011.10:g.125983892C>T	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.Arg992Cys	rs1489303606	missense variant	-	NC_000011.10:g.125983893G>A	NCI-TCGA
CDON	Q4KMG0	p.Gln993Arg	rs751661788	missense variant	-	NC_000011.10:g.125983889T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr996Ile	rs953365509	missense variant	-	NC_000011.10:g.125983880G>A	gnomAD
CDON	Q4KMG0	p.Ile997Thr	rs780332543	missense variant	-	NC_000011.10:g.125983877A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Gln998Arg	rs1289177976	missense variant	-	NC_000011.10:g.125983874T>C	TOPMed
CDON	Q4KMG0	p.Gln998Glu	rs1190573891	missense variant	-	NC_000011.10:g.125983875G>C	gnomAD
CDON	Q4KMG0	p.Tyr1000Cys	rs1388222481	missense variant	-	NC_000011.10:g.125981326T>C	gnomAD
CDON	Q4KMG0	p.Asp1001Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125981323T>C	NCI-TCGA
CDON	Q4KMG0	p.Pro1002Ala	rs1169452825	missense variant	-	NC_000011.10:g.125981321G>C	gnomAD
CDON	Q4KMG0	p.Gly1004Arg	rs1030948897	missense variant	-	NC_000011.10:g.125981315C>T	TOPMed
CDON	Q4KMG0	p.Gly1004Val	rs758442757	missense variant	-	NC_000011.10:g.125981314C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gln1008Lys	rs745989935	missense variant	-	NC_000011.10:g.125981303G>T	ExAC,gnomAD
CDON	Q4KMG0	p.Gly1009Glu	rs1476875663	missense variant	-	NC_000011.10:g.125981299C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1009Ter	COSM4019077	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.125981300C>A	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser1010Thr	rs756046417	missense variant	-	NC_000011.10:g.125981297A>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp1011Gly	rs752466092	missense variant	-	NC_000011.10:g.125981293T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Asn1013Lys	rs684805	missense variant	-	NC_000011.10:g.125981286G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1014Ala	rs1458524178	missense variant	-	NC_000011.10:g.125981284C>G	gnomAD
CDON	Q4KMG0	p.Gly1014Arg	rs371732066	missense variant	-	NC_000011.10:g.125981285C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1014Arg	RCV000310695	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125981285C>T	ClinVar
CDON	Q4KMG0	p.Met1016Val	rs765962994	missense variant	-	NC_000011.10:g.125981279T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr1020Ala	rs1244591863	missense variant	-	NC_000011.10:g.125981267T>C	TOPMed
CDON	Q4KMG0	p.Thr1020Asn	rs1346428890	missense variant	-	NC_000011.10:g.125981266G>T	gnomAD
CDON	Q4KMG0	p.Thr1021Ala	rs762511903	missense variant	-	NC_000011.10:g.125981264T>C	ExAC
CDON	Q4KMG0	p.Thr1021Pro	rs762511903	missense variant	-	NC_000011.10:g.125981264T>G	ExAC
CDON	Q4KMG0	p.Thr1021Ala	RCV000274333	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125981264T>C	ClinVar
CDON	Q4KMG0	p.Leu1022Val	rs772664863	missense variant	-	NC_000011.10:g.125981261G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ser1023Ter	rs369581617	stop gained	-	NC_000011.10:g.125981257G>C	ESP,ExAC,gnomAD
CDON	Q4KMG0	p.Ser1023Pro	rs765748195	missense variant	-	NC_000011.10:g.125981258A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ser1026Asn	rs1333332207	missense variant	-	NC_000011.10:g.125981248C>T	gnomAD
CDON	Q4KMG0	p.Val1032Ile	rs777302238	missense variant	-	NC_000011.10:g.125981231C>T	ExAC
CDON	Q4KMG0	p.His1033Asp	rs1285173001	missense variant	-	NC_000011.10:g.125981228G>C	TOPMed
CDON	Q4KMG0	p.Gly1034Arg	rs199957528	missense variant	-	NC_000011.10:g.125981225C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1034Ala	rs772246581	missense variant	-	NC_000011.10:g.125981224C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Gly1034Arg	rs199957528	missense variant	-	NC_000011.10:g.125981225C>T	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.Gly1034Arg	rs199957528	missense variant	-	NC_000011.10:g.125981225C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1035Asp	rs1296209887	missense variant	-	NC_000011.10:g.125981221C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Phe1036Val	rs745925601	missense variant	-	NC_000011.10:g.125981219A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Gly1041Ser	rs748037394	missense variant	-	NC_000011.10:g.125981204C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1041Ser	rs748037394	missense variant	-	NC_000011.10:g.125981204C>T	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ser1043Arg	rs376284528	missense variant	-	NC_000011.10:g.125981198T>G	ExAC
CDON	Q4KMG0	p.Ser1043Cys	rs376284528	missense variant	-	NC_000011.10:g.125981198T>A	ExAC
CDON	Q4KMG0	p.Ser1044Gly	rs374738066	missense variant	-	NC_000011.10:g.125981195T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1045Ser	rs751414543	missense variant	-	NC_000011.10:g.125981192C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr1046Ser	rs761608208	missense variant	-	NC_000011.10:g.125981188T>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Tyr1046Cys	rs761608208	missense variant	-	NC_000011.10:g.125981188T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.His1048Gln	rs938975946	missense variant	-	NC_000011.10:g.125981181G>C	TOPMed
CDON	Q4KMG0	p.His1048Pro	rs779753732	missense variant	-	NC_000011.10:g.125981182T>G	ExAC,gnomAD
CDON	Q4KMG0	p.His1050Gln	rs1431173219	missense variant	-	NC_000011.10:g.125981175G>T	TOPMed
CDON	Q4KMG0	p.His1051Asn	rs1443815141	missense variant	-	NC_000011.10:g.125981174G>T	gnomAD
CDON	Q4KMG0	p.His1051Gln	rs1278957368	missense variant	-	NC_000011.10:g.125981172A>C	gnomAD
CDON	Q4KMG0	p.Val1053Ile	rs1374263592	missense variant	-	NC_000011.10:g.125981168C>T	TOPMed
CDON	Q4KMG0	p.Pro1054Leu	rs749930010	missense variant	-	NC_000011.10:g.125981164G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro1054Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125981165G>A	NCI-TCGA
CDON	Q4KMG0	p.Asn1055Lys	rs564214	missense variant	-	NC_000011.10:g.125981160A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn1055Ser	rs149532977	missense variant	-	NC_000011.10:g.125981161T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala1056Gly	rs764752866	missense variant	-	NC_000011.10:g.125981158G>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ala1056Thr	rs754336636	missense variant	-	NC_000011.10:g.125981159C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn1058Ser	rs371410969	missense variant	-	NC_000011.10:g.125981152T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1059Arg	rs1361088072	missense variant	-	NC_000011.10:g.125981150C>T	gnomAD
CDON	Q4KMG0	p.Ile1060Thr	rs776033302	missense variant	-	NC_000011.10:g.125981146A>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn1062Thr	rs1176933751	missense variant	-	NC_000011.10:g.125981140T>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Ser1064Gly	rs143111106	missense variant	-	NC_000011.10:g.125981135T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser1064Asn	rs113558382	missense variant	-	NC_000011.10:g.125981134C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser1064Gly	RCV000314199	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125981135T>C	ClinVar
CDON	Q4KMG0	p.Ser1064Thr	rs113558382	missense variant	-	NC_000011.10:g.125981134C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asn1066Asp	rs1258153065	missense variant	-	NC_000011.10:g.125981129T>C	TOPMed
CDON	Q4KMG0	p.Gly1067Arg	rs368584161	missense variant	-	NC_000011.10:g.125981126C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1067Ter	rs368584161	stop gained	-	NC_000011.10:g.125981126C>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1068Glu	rs1356718011	missense variant	-	NC_000011.10:g.125981122C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Leu1069Pro	rs1177180374	missense variant	-	NC_000011.10:g.125981119A>G	gnomAD
CDON	Q4KMG0	p.Leu1069Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125981119A>C	NCI-TCGA
CDON	Q4KMG0	p.Gly1072Arg	rs887390814	missense variant	-	NC_000011.10:g.125981111C>T	TOPMed
CDON	Q4KMG0	p.Gly1072Trp	rs887390814	missense variant	-	NC_000011.10:g.125981111C>A	TOPMed
CDON	Q4KMG0	p.Ser1074Gly	rs1440142499	missense variant	-	NC_000011.10:g.125981105T>C	gnomAD
CDON	Q4KMG0	p.Ser1074Asn	rs779766563	missense variant	-	NC_000011.10:g.125981104C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Asn1075Thr	rs1217198658	missense variant	-	NC_000011.10:g.125981101T>G	gnomAD
CDON	Q4KMG0	p.Thr1080Ala	rs758239580	missense variant	-	NC_000011.10:g.125981087T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His1081Asn	rs1283860972	missense variant	-	NC_000011.10:g.125981084G>T	gnomAD
CDON	Q4KMG0	p.His1081Arg	rs532583611	missense variant	-	NC_000011.10:g.125981083T>C	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His1081Gln	rs756812421	missense variant	-	NC_000011.10:g.125981082G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His1081Gln	rs756812421	missense variant	-	NC_000011.10:g.125981082G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val1082Leu	rs753463208	missense variant	-	NC_000011.10:g.125981081C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val1082Met	rs753463208	missense variant	-	NC_000011.10:g.125981081C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp1083Gly	rs1353565667	missense variant	-	NC_000011.10:g.125981077T>C	gnomAD
CDON	Q4KMG0	p.His1086Gln	rs141970313	missense variant	-	NC_000011.10:g.125981067A>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro1087Ala	rs753268933	missense variant	-	NC_000011.10:g.125981066G>C	ExAC,gnomAD
CDON	Q4KMG0	p.His1088Arg	rs759948908	missense variant	-	NC_000011.10:g.125981062T>C	ExAC,gnomAD
CDON	Q4KMG0	p.His1088Tyr	rs767733147	missense variant	-	NC_000011.10:g.125981063G>A	ExAC,gnomAD
CDON	Q4KMG0	p.His1088Tyr	rs767733147	missense variant	-	NC_000011.10:g.125981063G>A	NCI-TCGA,NCI-TCGA Cosmic
CDON	Q4KMG0	p.His1089Asn	COSM4841102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125981060G>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Val1091Leu	rs1415000535	missense variant	-	NC_000011.10:g.125981054C>G	gnomAD
CDON	Q4KMG0	p.Val1091Met	rs1415000535	missense variant	-	NC_000011.10:g.125981054C>T	gnomAD
CDON	Q4KMG0	p.Gly1093Cys	rs1335755163	missense variant	-	NC_000011.10:g.125978383C>A	TOPMed
CDON	Q4KMG0	p.Gly1093Val	rs761960156	missense variant	-	NC_000011.10:g.125978382C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Gly1093Ser	COSM3791306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125978383C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Gly1094Val	rs775236931	missense variant	-	NC_000011.10:g.125978379C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Met1096Val	rs541277057	missense variant	-	NC_000011.10:g.125978374T>C	1000Genomes,ExAC,TOPMed
CDON	Q4KMG0	p.Tyr1097Phe	rs1458978789	missense variant	-	NC_000011.10:g.125978370T>A	gnomAD
CDON	Q4KMG0	p.Thr1098Met	rs1260225651	missense variant	-	NC_000011.10:g.125978367G>A	gnomAD
CDON	Q4KMG0	p.Thr1098Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125978368T>A	NCI-TCGA
CDON	Q4KMG0	p.Ala1099Thr	COSM294231	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125978365C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Ala1099Val	rs774247622	missense variant	-	NC_000011.10:g.125978364G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Val1100Met	rs1221390080	missense variant	-	NC_000011.10:g.125978362C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Val1100Met	rs1221390080	missense variant	-	NC_000011.10:g.125978362C>T	NCI-TCGA
CDON	Q4KMG0	p.Gln1102Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125978356G>C	NCI-TCGA
CDON	Q4KMG0	p.Ile1103Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125978353T>A	NCI-TCGA
CDON	Q4KMG0	p.Asp1104Asn	rs1293502005	missense variant	-	NC_000011.10:g.125978350C>T	gnomAD
CDON	Q4KMG0	p.Asp1104His	COSM3808724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125978350C>G	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Pro1105His	rs555336512	missense variant	-	NC_000011.10:g.125978346G>T	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Pro1105Ser	rs1439151255	missense variant	-	NC_000011.10:g.125978347G>A	gnomAD
CDON	Q4KMG0	p.Pro1105Leu	rs555336512	missense variant	-	NC_000011.10:g.125978346G>A	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Glu1107Lys	rs1214543856	missense variant	-	NC_000011.10:g.125978341C>T	TOPMed
CDON	Q4KMG0	p.Glu1107Lys	rs1214543856	missense variant	-	NC_000011.10:g.125978341C>T	NCI-TCGA
CDON	Q4KMG0	p.Val1109Ala	rs1222061027	missense variant	-	NC_000011.10:g.125978334A>G	TOPMed
CDON	Q4KMG0	p.Cys1111Tyr	rs541603575	missense variant	-	NC_000011.10:g.125978328C>T	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Arg1112Gln	rs1177628525	missense variant	-	NC_000011.10:g.125978325C>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Arg1112Ter	rs1352215408	stop gained	-	NC_000011.10:g.125978326G>A	gnomAD
CDON	Q4KMG0	p.Arg1112Gly	rs1352215408	missense variant	-	NC_000011.10:g.125978326G>C	gnomAD
CDON	Q4KMG0	p.Arg1112Gln	rs1177628525	missense variant	-	NC_000011.10:g.125978325C>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Arg1115Leu	rs762571384	missense variant	-	NC_000011.10:g.125978316C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg1115Ter	rs747750419	stop gained	-	NC_000011.10:g.125978317G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg1115Gln	rs762571384	missense variant	-	NC_000011.10:g.125978316C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg1115Leu	rs762571384	missense variant	-	NC_000011.10:g.125978316C>A	NCI-TCGA
CDON	Q4KMG0	p.Asn1117Asp	rs1485564994	missense variant	-	NC_000011.10:g.125978311T>C	TOPMed
CDON	Q4KMG0	p.Asn1117Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125978311T>A	NCI-TCGA
CDON	Q4KMG0	p.Asn1118Thr	rs1441258356	missense variant	-	NC_000011.10:g.125978307T>G	gnomAD
CDON	Q4KMG0	p.Arg1119Thr	rs755551243	missense variant	-	NC_000011.10:g.125978304C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Arg1119Lys	rs755551243	missense variant	-	NC_000011.10:g.125978304C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Cys1120Gly	rs780803621	missense variant	-	NC_000011.10:g.125961997A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Phe1121Ser	rs564838080	missense variant	-	NC_000011.10:g.125961993A>G	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Thr1122Ala	rs1396258041	missense variant	-	NC_000011.10:g.125961991T>C	gnomAD
CDON	Q4KMG0	p.Lys1123Glu	rs1310572868	missense variant	-	NC_000011.10:g.125961988T>C	gnomAD
CDON	Q4KMG0	p.Asn1125Ser	rs780548308	missense variant	-	NC_000011.10:g.125961981T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Thr1127Ala	rs558907887	missense variant	-	NC_000011.10:g.125961976T>C	1000Genomes,ExAC
CDON	Q4KMG0	p.Phe1128Leu	rs1451344571	missense variant	-	NC_000011.10:g.125961971G>C	gnomAD
CDON	Q4KMG0	p.Ser1129Arg	rs779073494	missense variant	-	NC_000011.10:g.125961968G>T	ExAC,gnomAD
CDON	Q4KMG0	p.Ser1131Asn	rs757546563	missense variant	-	NC_000011.10:g.125961963C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Pro1132Arg	rs754025360	missense variant	-	NC_000011.10:g.125961960G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro1132Leu	rs754025360	missense variant	-	NC_000011.10:g.125961960G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro1132Leu	RCV000513511	missense variant	-	NC_000011.10:g.125961960G>A	ClinVar
CDON	Q4KMG0	p.Pro1133Ser	rs764189518	missense variant	-	NC_000011.10:g.125961958G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro1134Leu	rs1019684894	missense variant	-	NC_000011.10:g.125961954G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Val1135Glu	rs1258827477	missense variant	-	NC_000011.10:g.125961951A>T	TOPMed,gnomAD
CDON	Q4KMG0	p.Val1138Glu	rs1264523920	missense variant	-	NC_000011.10:g.125961942A>T	gnomAD
CDON	Q4KMG0	p.Val1139Leu	rs1227574682	missense variant	-	NC_000011.10:g.125961940C>A	gnomAD
CDON	Q4KMG0	p.Ala1140Gly	rs1205116063	missense variant	-	NC_000011.10:g.125961936G>C	gnomAD
CDON	Q4KMG0	p.Tyr1142Asn	rs1267640402	missense variant	-	NC_000011.10:g.125961931A>T	gnomAD
CDON	Q4KMG0	p.Gln1144Lys	rs1350208683	missense variant	-	NC_000011.10:g.125961925G>T	TOPMed
CDON	Q4KMG0	p.Gly1146Asp	rs573704535	missense variant	-	NC_000011.10:g.125961918C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1146Ser	rs766480222	missense variant	-	NC_000011.10:g.125961919C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Leu1147Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125961914C>A	NCI-TCGA
CDON	Q4KMG0	p.Glu1148Val	rs1486231190	missense variant	-	NC_000011.10:g.125961912T>A	TOPMed
CDON	Q4KMG0	p.Pro1151Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125961904G>A	NCI-TCGA
CDON	Q4KMG0	p.Leu1152Phe	rs1291103020	missense variant	-	NC_000011.10:g.125961901G>A	gnomAD
CDON	Q4KMG0	p.Val1155Met	rs768149853	missense variant	-	NC_000011.10:g.125961892C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val1155Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125961892C>A	NCI-TCGA
CDON	Q4KMG0	p.Val1155Leu	rs768149853	missense variant	-	NC_000011.10:g.125961892C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro1158Ala	rs1293915017	missense variant	-	NC_000011.10:g.125961883G>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Pro1158Leu	rs780528095	missense variant	-	NC_000011.10:g.125961882G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro1158Ser	rs1293915017	missense variant	-	NC_000011.10:g.125961883G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Val1159Leu	rs780737060	missense variant	-	NC_000011.10:g.125961880C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val1159Ile	rs780737060	missense variant	-	NC_000011.10:g.125961880C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Cys1160Arg	rs746206383	missense variant	-	NC_000011.10:g.125961877A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Thr1162Asn	rs1377001536	missense variant	-	NC_000011.10:g.125961870G>T	TOPMed
CDON	Q4KMG0	p.Ser1163Pro	rs779284145	missense variant	-	NC_000011.10:g.125961868A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Ala1164Thr	rs757589429	missense variant	-	NC_000011.10:g.125961865C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala1164Glu	rs1270157464	missense variant	-	NC_000011.10:g.125961864G>T	gnomAD
CDON	Q4KMG0	p.Val1165Ala	rs754024854	missense variant	-	NC_000011.10:g.125961861A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Pro1166Leu	rs1468373205	missense variant	-	NC_000011.10:g.125961858G>A	gnomAD
CDON	Q4KMG0	p.Asp1167His	rs777871279	missense variant	-	NC_000011.10:g.125961856C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Cys1168Arg	rs1393122019	missense variant	-	NC_000011.10:g.125961853A>G	TOPMed
CDON	Q4KMG0	p.Gly1169Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125961849C>A	NCI-TCGA
CDON	Q4KMG0	p.Gln1170Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125961847G>T	NCI-TCGA
CDON	Q4KMG0	p.Pro1172Gln	rs370469702	missense variant	-	NC_000011.10:g.125961840G>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro1172Leu	rs370469702	missense variant	-	NC_000011.10:g.125961840G>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu1174Asp	rs750407890	missense variant	-	NC_000011.10:g.125961833C>G	ExAC,gnomAD
CDON	Q4KMG0	p.Glu1174Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125961834T>C	NCI-TCGA
CDON	Q4KMG0	p.Ser1175Thr	rs1332731475	missense variant	-	NC_000011.10:g.125961831C>G	gnomAD
CDON	Q4KMG0	p.Ser1175Asn	rs1332731475	missense variant	-	NC_000011.10:g.125961831C>T	gnomAD
CDON	Q4KMG0	p.Ser1175Gly	rs765042657	missense variant	-	NC_000011.10:g.125961832T>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val1176Ile	rs78304400	missense variant	-	NC_000011.10:g.125961829C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Val1176Ile	RCV000391505	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125961829C>T	ClinVar
CDON	Q4KMG0	p.Asn1179Ser	rs1392093536	missense variant	-	NC_000011.10:g.125961819T>C	gnomAD
CDON	Q4KMG0	p.Val1183Gly	rs760177298	missense variant	-	NC_000011.10:g.125961807A>C	ExAC,gnomAD
CDON	Q4KMG0	p.Val1183Ala	rs760177298	missense variant	-	NC_000011.10:g.125961807A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Pro1184Leu	rs370597894	missense variant	-	NC_000011.10:g.125961804G>A	1000Genomes,ExAC,gnomAD
CDON	Q4KMG0	p.Arg1187Cys	rs150174788	missense variant	-	NC_000011.10:g.125961796G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Arg1187Cys	RCV000284116	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125961796G>A	ClinVar
CDON	Q4KMG0	p.Arg1187Cys	RCV000249282	missense variant	-	NC_000011.10:g.125961796G>A	ClinVar
CDON	Q4KMG0	p.Arg1187His	rs771268293	missense variant	-	NC_000011.10:g.125961795C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Cys1189Phe	rs140231214	missense variant	-	NC_000011.10:g.125961789C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Cys1190Trp	rs1251524602	missense variant	-	NC_000011.10:g.125961785A>C	gnomAD
CDON	Q4KMG0	p.Asp1192Asn	rs181749265	missense variant	-	NC_000011.10:g.125961781C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Asp1196Val	rs1346590838	missense variant	-	NC_000011.10:g.125961768T>A	gnomAD
CDON	Q4KMG0	p.Asp1196Asn	rs1193538979	missense variant	-	NC_000011.10:g.125961769C>T	gnomAD
CDON	Q4KMG0	p.Val1197Ile	rs911339564	missense variant	-	NC_000011.10:g.125961766C>T	gnomAD
CDON	Q4KMG0	p.Ser1198Asn	rs755140892	missense variant	-	NC_000011.10:g.125961762C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Ser1198Arg	rs1435043236	missense variant	-	NC_000011.10:g.125961763T>G	TOPMed
CDON	Q4KMG0	p.Asp1200Gly	rs757066021	missense variant	-	NC_000011.10:g.125961756T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Asp1200His	rs765103665	missense variant	-	NC_000011.10:g.125961757C>G	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1201Asp	rs200042535	missense variant	-	NC_000011.10:g.125961753C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser1202Ter	rs1344581842	stop gained	-	NC_000011.10:g.125961750G>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ser1202Leu	rs1344581842	missense variant	-	NC_000011.10:g.125961750G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Glu1203Ala	rs1434673745	missense variant	-	NC_000011.10:g.125961747T>G	gnomAD
CDON	Q4KMG0	p.Pro1205Leu	rs775150291	missense variant	-	NC_000011.10:g.125961741G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Pro1205Gln	rs775150291	missense variant	-	NC_000011.10:g.125961741G>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu1207Ter	rs1440736815	stop gained	-	NC_000011.10:g.125961736C>A	gnomAD
CDON	Q4KMG0	p.Ser1209Gly	rs1305815122	missense variant	-	NC_000011.10:g.125961730T>C	TOPMed
CDON	Q4KMG0	p.Gly1214Ser	rs189386496	missense variant	-	NC_000011.10:g.125961715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1214Asp	rs771408542	missense variant	-	NC_000011.10:g.125961714C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Gly1214Cys	rs189386496	missense variant	-	NC_000011.10:g.125961715C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Met1215Val	rs1235677319	missense variant	-	NC_000011.10:g.125961712T>C	gnomAD
CDON	Q4KMG0	p.Leu1218Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125961703G>C	NCI-TCGA
CDON	Q4KMG0	p.Pro1221Ser	rs1324830619	missense variant	-	NC_000011.10:g.125961694G>A	gnomAD
CDON	Q4KMG0	p.Asp1222Gly	rs370358962	missense variant	-	NC_000011.10:g.125961690T>C	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.His1223Asp	rs1288126368	missense variant	-	NC_000011.10:g.125961688G>C	TOPMed,gnomAD
CDON	Q4KMG0	p.His1223Arg	rs773498907	missense variant	-	NC_000011.10:g.125961687T>C	ExAC,gnomAD
CDON	Q4KMG0	p.His1223Tyr	rs1288126368	missense variant	-	NC_000011.10:g.125961688G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Gln1225His	rs748343127	missense variant	-	NC_000011.10:g.125961680C>A	ExAC
CDON	Q4KMG0	p.Gln1225Leu	rs377706219	missense variant	-	NC_000011.10:g.125961681T>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala1227Thr	rs374493187	missense variant	-	NC_000011.10:g.125961676C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ala1227Val	rs1251276521	missense variant	-	NC_000011.10:g.125961675G>A	TOPMed
CDON	Q4KMG0	p.Cys1230Tyr	rs755054936	missense variant	-	NC_000011.10:g.125961666C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Trp1232Ter	rs747118426	stop gained	-	NC_000011.10:g.125961660C>T	ExAC,gnomAD
CDON	Q4KMG0	p.Glu1233Asp	rs1374139666	missense variant	-	NC_000011.10:g.125961656T>G	gnomAD
CDON	Q4KMG0	p.Ser1236Asn	rs1163838504	missense variant	-	NC_000011.10:g.125961099C>T	gnomAD
CDON	Q4KMG0	p.Cys1237Arg	rs752553745	missense variant	-	NC_000011.10:g.125961097A>G	ExAC,gnomAD
CDON	Q4KMG0	p.Cys1237Tyr	rs1425158132	missense variant	-	NC_000011.10:g.125961096C>T	gnomAD
CDON	Q4KMG0	p.Ala1238Val	rs780791664	missense variant	-	NC_000011.10:g.125961093G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Glu1241Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.125961085C>A	NCI-TCGA
CDON	Q4KMG0	p.Glu1241Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125961085C>T	NCI-TCGA
CDON	Q4KMG0	p.Glu1243Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125961077C>A	NCI-TCGA
CDON	Q4KMG0	p.Ile1244Asn	RCV000287810	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125961075A>T	ClinVar
CDON	Q4KMG0	p.Ile1244Asn	rs684535	missense variant	-	NC_000011.10:g.125961075A>T	1000Genomes,ESP,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile1244Asn	RCV000254270	missense variant	-	NC_000011.10:g.125961075A>T	ClinVar
CDON	Q4KMG0	p.Asn1245Asp	rs747417428	missense variant	-	NC_000011.10:g.125961073T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Ile1246Leu	rs988692637	missense variant	-	NC_000011.10:g.125961070T>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Val1247Leu	rs1218006905	missense variant	-	NC_000011.10:g.125961067C>A	TOPMed
CDON	Q4KMG0	p.Ser1248Asn	rs376724826	missense variant	-	NC_000011.10:g.125961063C>T	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser1248Ile	rs376724826	missense variant	-	NC_000011.10:g.125961063C>A	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Trp1249Ter	rs765767255	stop gained	-	NC_000011.10:g.125961060C>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Trp1249Ter	rs1215293051	stop gained	-	NC_000011.10:g.125961059C>T	gnomAD
CDON	Q4KMG0	p.Asn1250Thr	rs1019421597	missense variant	-	NC_000011.10:g.125961057T>G	TOPMed
CDON	Q4KMG0	p.Asn1250Ile	rs1019421597	missense variant	-	NC_000011.10:g.125961057T>A	TOPMed
CDON	Q4KMG0	p.Leu1252Val	rs762531926	missense variant	-	NC_000011.10:g.125961052G>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Leu1252Phe	rs762531926	missense variant	-	NC_000011.10:g.125961052G>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile1253Ser	rs750904257	missense variant	-	NC_000011.10:g.125961048A>C	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile1253Asn	rs750904257	missense variant	-	NC_000011.10:g.125961048A>T	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ile1253Val	rs1249739288	missense variant	-	NC_000011.10:g.125961049T>C	gnomAD
CDON	Q4KMG0	p.Val1257Ile	rs1401785502	missense variant	-	NC_000011.10:g.125961037C>T	gnomAD
CDON	Q4KMG0	p.Glu1259Ter	rs373765094	stop gained	-	NC_000011.10:g.125961031C>A	ESP,TOPMed,gnomAD
CDON	Q4KMG0	p.Glu1259Lys	rs373765094	missense variant	-	NC_000011.10:g.125961031C>T	ESP,TOPMed,gnomAD
CDON	Q4KMG0	p.Gly1260Val	rs777179648	missense variant	-	NC_000011.10:g.125961027C>A	ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Cys1261TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.125961023A>-	NCI-TCGA
CDON	Q4KMG0	p.Cys1261Arg	rs369231909	missense variant	-	NC_000011.10:g.125961025A>G	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Cys1261Tyr	rs375020165	missense variant	-	NC_000011.10:g.125961024C>T	ESP,ExAC,TOPMed
CDON	Q4KMG0	p.Lys1264Asn	rs1279061888	missense variant	-	NC_000011.10:g.125961014C>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Lys1264Glu	rs775781002	missense variant	-	NC_000011.10:g.125961016T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Met1266Leu	rs1252153612	missense variant	-	NC_000011.10:g.125961010T>G	TOPMed,gnomAD
CDON	Q4KMG0	p.Met1266Val	rs1252153612	missense variant	-	NC_000011.10:g.125961010T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Trp1267Leu	rs1193196080	missense variant	-	NC_000011.10:g.125961006C>A	gnomAD
CDON	Q4KMG0	p.Trp1267Cys	rs1467326139	missense variant	-	NC_000011.10:g.125961005C>A	gnomAD
CDON	Q4KMG0	p.Ser1268Phe	rs1260282722	missense variant	-	NC_000011.10:g.125961003G>A	gnomAD
CDON	Q4KMG0	p.Pro1269Ser	rs777682588	missense variant	-	NC_000011.10:g.125961001G>A	ExAC,gnomAD
CDON	Q4KMG0	p.Pro1269Thr	rs777682588	missense variant	-	NC_000011.10:g.125961001G>T	ExAC,gnomAD
CDON	Q4KMG0	p.Gly1271Asp	rs1399298607	missense variant	-	NC_000011.10:g.125960994C>T	TOPMed
CDON	Q4KMG0	p.Asp1275Gly	rs995457648	missense variant	-	NC_000011.10:g.125960982T>C	TOPMed,gnomAD
CDON	Q4KMG0	p.Asp1275His	rs150974313	missense variant	-	NC_000011.10:g.125960983C>G	ESP,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Ser1276Gly	rs780916211	missense variant	-	NC_000011.10:g.125960980T>C	ExAC,gnomAD
CDON	Q4KMG0	p.Ser1276Arg	COSM1321807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125960978G>T	NCI-TCGA Cosmic
CDON	Q4KMG0	p.Pro1277Leu	rs199762166	missense variant	-	NC_000011.10:g.125960976G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr1278Ile	rs1378612877	missense variant	-	NC_000011.10:g.125960973G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Gln1282His	rs779772219	missense variant	-	NC_000011.10:g.125960960C>A	ExAC,gnomAD
CDON	Q4KMG0	p.Gln1282Leu	rs1461029725	missense variant	-	NC_000011.10:g.125960961T>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Gln1283Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.125960958T>A	NCI-TCGA
CDON	Q4KMG0	p.Pro1284Leu	rs1435296298	missense variant	-	NC_000011.10:g.125960955G>A	TOPMed,gnomAD
CDON	Q4KMG0	p.Arg1285Gln	rs1475867230	missense variant	-	NC_000011.10:g.125960952C>T	TOPMed
CDON	Q4KMG0	p.Arg1285Trp	rs189599953	missense variant	-	NC_000011.10:g.125960953G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDON	Q4KMG0	p.Thr1287Ala	COSM3445003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125960947T>C	NCI-TCGA Cosmic
MIDN	Q504T8	p.Pro5Ala	rs971142541	missense variant	-	NC_000019.10:g.1250309C>G	TOPMed
MIDN	Q504T8	p.Pro5Ser	rs971142541	missense variant	-	NC_000019.10:g.1250309C>T	TOPMed
MIDN	Q504T8	p.Pro5Arg	rs982104669	missense variant	-	NC_000019.10:g.1250310C>G	TOPMed
MIDN	Q504T8	p.Gly6Asp	rs1478701659	missense variant	-	NC_000019.10:g.1250313G>A	TOPMed
MIDN	Q504T8	p.Arg9Gly	rs1181265400	missense variant	-	NC_000019.10:g.1250321C>G	TOPMed
MIDN	Q504T8	p.Ser10Arg	rs1036893755	missense variant	-	NC_000019.10:g.1250326C>G	TOPMed
MIDN	Q504T8	p.Ser10Asn	rs940735755	missense variant	-	NC_000019.10:g.1250325G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Ser10Gly	rs907976425	missense variant	-	NC_000019.10:g.1250324A>G	TOPMed
MIDN	Q504T8	p.Cys11Trp	rs1176003588	missense variant	-	NC_000019.10:g.1250329C>G	gnomAD
MIDN	Q504T8	p.Ala15Gly	rs757450452	missense variant	-	NC_000019.10:g.1250340C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala15Asp	rs757450452	missense variant	-	NC_000019.10:g.1250340C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala15Val	rs757450452	missense variant	-	NC_000019.10:g.1250340C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro16Leu	rs919756257	missense variant	-	NC_000019.10:g.1250343C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Pro16Ser	rs1320520510	missense variant	-	NC_000019.10:g.1250342C>T	TOPMed
MIDN	Q504T8	p.Cys20Gly	rs202070687	missense variant	-	NC_000019.10:g.1250354T>G	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly23Arg	rs758754948	missense variant	-	NC_000019.10:g.1250363G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly23Cys	rs758754948	missense variant	-	NC_000019.10:g.1250363G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly23Ser	rs758754948	missense variant	-	NC_000019.10:g.1250363G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro24Thr	rs1050117643	missense variant	-	NC_000019.10:g.1250366C>A	TOPMed
MIDN	Q504T8	p.Pro24Arg	rs1410496610	missense variant	-	NC_000019.10:g.1250367C>G	gnomAD
MIDN	Q504T8	p.Glu27Lys	rs752001667	missense variant	-	NC_000019.10:g.1250375G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu27Ala	rs755477061	missense variant	-	NC_000019.10:g.1250376A>C	ExAC,gnomAD
MIDN	Q504T8	p.Ala29Thr	rs1415940793	missense variant	-	NC_000019.10:g.1250381G>A	TOPMed
MIDN	Q504T8	p.Pro30Ser	rs1312429457	missense variant	-	NC_000019.10:g.1250384C>T	gnomAD
MIDN	Q504T8	p.Met31Ile	rs777300728	missense variant	-	NC_000019.10:g.1250389G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met31Val	rs1209656447	missense variant	-	NC_000019.10:g.1250387A>G	gnomAD
MIDN	Q504T8	p.Met31Ile	rs777300728	missense variant	-	NC_000019.10:g.1250389G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser32Gly	rs748774097	missense variant	-	NC_000019.10:g.1250390A>G	ExAC
MIDN	Q504T8	p.Ser32Thr	rs770526250	missense variant	-	NC_000019.10:g.1250391G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser32Asn	rs770526250	missense variant	-	NC_000019.10:g.1250391G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala34Val	rs745584780	missense variant	-	NC_000019.10:g.1250397C>T	ExAC,gnomAD
MIDN	Q504T8	p.His36Tyr	rs775440270	missense variant	-	NC_000019.10:g.1250402C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser37Cys	rs368352874	missense variant	-	NC_000019.10:g.1250405A>T	ESP
MIDN	Q504T8	p.Thr39Met	rs768499988	missense variant	-	NC_000019.10:g.1250412C>T	ExAC,gnomAD
MIDN	Q504T8	p.Gly40Ala	rs1307423084	missense variant	-	NC_000019.10:g.1250415G>C	TOPMed,gnomAD
MIDN	Q504T8	p.Gly40Ser	rs1430563088	missense variant	-	NC_000019.10:g.1250414G>A	gnomAD
MIDN	Q504T8	p.Gly40Asp	rs1307423084	missense variant	-	NC_000019.10:g.1250415G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Thr41Ser	rs776678714	missense variant	-	NC_000019.10:g.1250418C>G	ExAC,gnomAD
MIDN	Q504T8	p.Arg42His	rs765422422	missense variant	-	NC_000019.10:g.1250421G>A	ExAC,gnomAD
MIDN	Q504T8	p.Tyr43Cys	rs750594313	missense variant	-	NC_000019.10:g.1250424A>G	ExAC,gnomAD
MIDN	Q504T8	p.Asp44Asn	rs1300877196	missense variant	-	NC_000019.10:g.1250426G>A	gnomAD
MIDN	Q504T8	p.Leu45Val	rs766660331	missense variant	-	NC_000019.10:g.1250429C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro48Ser	rs755432431	missense variant	-	NC_000019.10:g.1250438C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro49Leu	rs781531680	missense variant	-	NC_000019.10:g.1250442C>T	ExAC,gnomAD
MIDN	Q504T8	p.Asp50Asn	rs756719134	missense variant	-	NC_000019.10:g.1250444G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu54Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1250458G>C	NCI-TCGA
MIDN	Q504T8	p.Gly55Ala	rs779945506	missense variant	-	NC_000019.10:g.1250460G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly55Glu	rs779945506	missense variant	-	NC_000019.10:g.1250460G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu56Met	rs1407120806	missense variant	-	NC_000019.10:g.1250462C>A	gnomAD
MIDN	Q504T8	p.Lys58Gln	rs768534431	missense variant	-	NC_000019.10:g.1250468A>C	ExAC,gnomAD
MIDN	Q504T8	p.Lys58Asn	rs1349796220	missense variant	-	NC_000019.10:g.1250470G>C	gnomAD
MIDN	Q504T8	p.Arg59Trp	rs776426661	missense variant	-	NC_000019.10:g.1250471C>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg63His	rs769702282	missense variant	-	NC_000019.10:g.1250484G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu64Phe	rs763117290	missense variant	-	NC_000019.10:g.1250486C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Lys65Asn	rs1229527549	missense variant	-	NC_000019.10:g.1250491A>C	TOPMed,gnomAD
MIDN	Q504T8	p.Val66Met	rs751831953	missense variant	-	NC_000019.10:g.1250492G>A	ExAC,gnomAD
MIDN	Q504T8	p.Lys68Asn	rs767994744	missense variant	-	NC_000019.10:g.1250500G>T	ExAC,gnomAD
MIDN	Q504T8	p.Lys68Gln	rs1267741866	missense variant	-	NC_000019.10:g.1250498A>C	TOPMed
MIDN	Q504T8	p.Lys68Arg	rs759792077	missense variant	-	NC_000019.10:g.1250499A>G	ExAC,gnomAD
MIDN	Q504T8	p.Arg70His	rs756660095	missense variant	-	NC_000019.10:g.1250505G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala72Gly	rs746724270	missense variant	-	NC_000019.10:g.1250511C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala72Thr	rs779820891	missense variant	-	NC_000019.10:g.1250510G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala72Val	rs746724270	missense variant	-	NC_000019.10:g.1250511C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu73Val	rs754714322	missense variant	-	NC_000019.10:g.1250513C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu74Phe	rs1241748417	missense variant	-	NC_000019.10:g.1250516C>T	TOPMed
MIDN	Q504T8	p.Asp77Glu	rs781052615	missense variant	-	NC_000019.10:g.1250527C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr78Asn	rs1389895531	missense variant	-	NC_000019.10:g.1250529C>A	TOPMed,gnomAD
MIDN	Q504T8	p.Thr78Ile	rs1389895531	missense variant	-	NC_000019.10:g.1250529C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Ser81Asn	rs770442876	missense variant	-	NC_000019.10:g.1251570G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ser82Leu	rs1461023008	missense variant	-	NC_000019.10:g.1251573C>T	gnomAD
MIDN	Q504T8	p.Lys84Arg	rs767007304	missense variant	-	NC_000019.10:g.1251579A>G	ExAC,gnomAD
MIDN	Q504T8	p.Lys84Asn	rs375683589	missense variant	-	NC_000019.10:g.1251580G>C	ESP,ExAC,gnomAD
MIDN	Q504T8	p.Leu85ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.1251580_1251581insC	NCI-TCGA
MIDN	Q504T8	p.Phe88Cys	rs1296528392	missense variant	-	NC_000019.10:g.1251591T>G	gnomAD
MIDN	Q504T8	p.Gly89Ser	rs1225321020	missense variant	-	NC_000019.10:g.1251593G>A	gnomAD
MIDN	Q504T8	p.Gly91Cys	rs144043116	missense variant	-	NC_000019.10:g.1251599G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly91Asp	rs778888633	missense variant	-	NC_000019.10:g.1251600G>A	ExAC,gnomAD
MIDN	Q504T8	p.Gly91Val	rs778888633	missense variant	-	NC_000019.10:g.1251600G>T	ExAC,gnomAD
MIDN	Q504T8	p.Asp92Val	rs1270299097	missense variant	-	NC_000019.10:g.1251603A>T	gnomAD
MIDN	Q504T8	p.Ser94Thr	rs758491546	missense variant	-	NC_000019.10:g.1251609G>C	ExAC,gnomAD
MIDN	Q504T8	p.Ser94Arg	COSM1390510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.1251610C>A	NCI-TCGA Cosmic
MIDN	Q504T8	p.Glu103Ter	rs1167616422	stop gained	-	NC_000019.10:g.1251635G>T	gnomAD
MIDN	Q504T8	p.Met107Thr	rs1290717832	missense variant	-	NC_000019.10:g.1251648T>C	TOPMed
MIDN	Q504T8	p.Met107Val	rs745951617	missense variant	-	NC_000019.10:g.1251647A>G	ExAC,gnomAD
MIDN	Q504T8	p.Ser108Tyr	rs779362405	missense variant	-	NC_000019.10:g.1251840C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser108Phe	rs779362405	missense variant	-	NC_000019.10:g.1251840C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser108Cys	rs779362405	missense variant	-	NC_000019.10:g.1251840C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln109Pro	rs1371697914	missense variant	-	NC_000019.10:g.1251843A>C	TOPMed,gnomAD
MIDN	Q504T8	p.Gln109Glu	rs1346880159	missense variant	-	NC_000019.10:g.1251842C>G	gnomAD
MIDN	Q504T8	p.Gln109Arg	rs1371697914	missense variant	-	NC_000019.10:g.1251843A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Ala110Val	rs746431075	missense variant	-	NC_000019.10:g.1251846C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala110Thr	rs1221286491	missense variant	-	NC_000019.10:g.1251845G>A	gnomAD
MIDN	Q504T8	p.Ala110Ser	rs1221286491	missense variant	-	NC_000019.10:g.1251845G>T	gnomAD
MIDN	Q504T8	p.Ser111Leu	rs776121596	missense variant	-	NC_000019.10:g.1251849C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg112Ser	rs769350537	missense variant	-	NC_000019.10:g.1251853G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg112Lys	rs759296354	missense variant	-	NC_000019.10:g.1251852G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro113Ser	rs1205185771	missense variant	-	NC_000019.10:g.1251854C>T	gnomAD
MIDN	Q504T8	p.Pro113Arg	rs762620482	missense variant	-	NC_000019.10:g.1251855C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro113Leu	rs762620482	missense variant	-	NC_000019.10:g.1251855C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln115His	rs377700904	missense variant	-	NC_000019.10:g.1251862G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val117Leu	rs375835337	missense variant	-	NC_000019.10:g.1251866G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val117Leu	rs375835337	missense variant	-	NC_000019.10:g.1251866G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met118Leu	rs945811171	missense variant	-	NC_000019.10:g.1251869A>T	TOPMed
MIDN	Q504T8	p.Gln119Ter	rs1278177515	stop gained	-	NC_000019.10:g.1251872C>T	gnomAD
MIDN	Q504T8	p.Leu121Val	rs757558824	missense variant	-	NC_000019.10:g.1251878C>G	ExAC,gnomAD
MIDN	Q504T8	p.Glu122Gln	rs758934723	missense variant	-	NC_000019.10:g.1251881G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr127Lys	rs747586153	missense variant	-	NC_000019.10:g.1251897C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr127Arg	rs747586153	missense variant	-	NC_000019.10:g.1251897C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr127Met	rs747586153	missense variant	-	NC_000019.10:g.1251897C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val129Ile	rs1264499113	missense variant	-	NC_000019.10:g.1254167G>A	gnomAD
MIDN	Q504T8	p.Ser130Gly	rs1461310491	missense variant	-	NC_000019.10:g.1254170A>G	gnomAD
MIDN	Q504T8	p.Phe132Leu	rs1261868352	missense variant	-	NC_000019.10:g.1254178C>A	gnomAD
MIDN	Q504T8	p.Leu133Val	rs781181977	missense variant	-	NC_000019.10:g.1254179C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser134Leu	rs748137724	missense variant	-	NC_000019.10:g.1254183C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly135Asp	rs1475414307	missense variant	-	NC_000019.10:g.1254186G>A	gnomAD
MIDN	Q504T8	p.Arg136Gly	rs540283060	missense variant	-	NC_000019.10:g.1254188C>G	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg136His	rs777832041	missense variant	-	NC_000019.10:g.1254189G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg136Cys	rs540283060	missense variant	-	NC_000019.10:g.1254188C>T	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser137Trp	rs749475160	missense variant	-	NC_000019.10:g.1254192C>G	ExAC,gnomAD
MIDN	Q504T8	p.Thr140Ile	rs1201843362	missense variant	-	NC_000019.10:g.1254201C>T	TOPMed
MIDN	Q504T8	p.Asp147Asn	rs761280459	missense variant	-	NC_000019.10:g.1254221G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met149Val	rs367835894	missense variant	-	NC_000019.10:g.1254227A>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met150Ile	rs762418714	missense variant	-	NC_000019.10:g.1254232G>A	ExAC,gnomAD
MIDN	Q504T8	p.Phe151Leu	rs766023183	missense variant	-	NC_000019.10:g.1254235C>A	ExAC,gnomAD
MIDN	Q504T8	p.Val152Met	rs1259544499	missense variant	-	NC_000019.10:g.1254236G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Gln155His	rs1186999767	missense variant	-	NC_000019.10:g.1254247G>T	gnomAD
MIDN	Q504T8	p.Leu156Val	rs754784777	missense variant	-	NC_000019.10:g.1254248C>G	ExAC,gnomAD
MIDN	Q504T8	p.Ala157Ser	rs766611057	missense variant	-	NC_000019.10:g.1254251G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala157Thr	rs766611057	missense variant	-	NC_000019.10:g.1254251G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala158Thr	rs1417945925	missense variant	-	NC_000019.10:g.1254254G>A	gnomAD
MIDN	Q504T8	p.Ala161Val	rs1301581173	missense variant	-	NC_000019.10:g.1254264C>T	gnomAD
MIDN	Q504T8	p.Ala161Thr	rs1030971122	missense variant	-	NC_000019.10:g.1254263G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Leu163Arg	rs1302167084	missense variant	-	NC_000019.10:g.1254270T>G	TOPMed
MIDN	Q504T8	p.Gln164Leu	rs770960950	missense variant	-	NC_000019.10:g.1254273A>T	ExAC,gnomAD
MIDN	Q504T8	p.His165Arg	rs1224677681	missense variant	-	NC_000019.10:g.1254276A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Arg166Gly	rs779192162	missense variant	-	NC_000019.10:g.1254278C>G	ExAC,gnomAD
MIDN	Q504T8	p.Arg166His	rs956082972	missense variant	-	NC_000019.10:g.1254279G>A	TOPMed
MIDN	Q504T8	p.Val168Ala	rs929315605	missense variant	-	NC_000019.10:g.1254285T>C	TOPMed,gnomAD
MIDN	Q504T8	p.Ala170Thr	rs761213192	missense variant	-	NC_000019.10:g.1254290G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala171Thr	rs769262895	missense variant	-	NC_000019.10:g.1254293G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala171Ser	rs769262895	missense variant	-	NC_000019.10:g.1254293G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala172Pro	rs765860661	missense variant	-	NC_000019.10:g.1254296G>C	ExAC,gnomAD
MIDN	Q504T8	p.Ala172Val	rs1237817278	missense variant	-	NC_000019.10:g.1254297C>T	gnomAD
MIDN	Q504T8	p.Ala174Thr	rs759111690	missense variant	-	NC_000019.10:g.1254302G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala175Thr	rs201144803	missense variant	-	NC_000019.10:g.1254305G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala176Thr	rs777660170	missense variant	-	NC_000019.10:g.1254308G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala177Val	rs1444179233	missense variant	-	NC_000019.10:g.1254312C>T	gnomAD
MIDN	Q504T8	p.Ala177Thr	rs1375729783	missense variant	-	NC_000019.10:g.1254311G>A	gnomAD
MIDN	Q504T8	p.Ala178Val	rs757347314	missense variant	-	NC_000019.10:g.1254315C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala178Thr	rs1305151140	missense variant	-	NC_000019.10:g.1254314G>A	gnomAD
MIDN	Q504T8	p.Arg179Pro	rs562824172	missense variant	-	NC_000019.10:g.1254318G>C	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg179Gln	rs562824172	missense variant	-	NC_000019.10:g.1254318G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg179Trp	rs1338724071	missense variant	-	NC_000019.10:g.1254317C>T	TOPMed
MIDN	Q504T8	p.Gly180Glu	rs758580814	missense variant	-	NC_000019.10:g.1254321G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp181Asn	rs1195796182	missense variant	-	NC_000019.10:g.1254323G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Asp181Val	rs368475536	missense variant	-	NC_000019.10:g.1254324A>T	ESP
MIDN	Q504T8	p.Asp181Tyr	rs1195796182	missense variant	-	NC_000019.10:g.1254323G>T	TOPMed,gnomAD
MIDN	Q504T8	p.Asp181GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.1254317_1254318insGG	NCI-TCGA
MIDN	Q504T8	p.Ser183Asn	rs780471332	missense variant	-	NC_000019.10:g.1254330G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser183Thr	rs780471332	missense variant	-	NC_000019.10:g.1254330G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ile184Met	rs747345791	missense variant	-	NC_000019.10:g.1254334A>G	ExAC,gnomAD
MIDN	Q504T8	p.Ala185Thr	rs1052046589	missense variant	-	NC_000019.10:g.1254335G>A	TOPMed
MIDN	Q504T8	p.Ser186Phe	rs1410976374	missense variant	-	NC_000019.10:g.1254339C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Val188Glu	rs1327585655	missense variant	-	NC_000019.10:g.1254345T>A	gnomAD
MIDN	Q504T8	p.Val188Met	rs748612554	missense variant	-	NC_000019.10:g.1254344G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val188Leu	rs748612554	missense variant	-	NC_000019.10:g.1254344G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val188Leu	rs748612554	missense variant	-	NC_000019.10:g.1254344G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val188CysPheSerTerUnkUnk	COSM2815886	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.1254339C>-	NCI-TCGA Cosmic
MIDN	Q504T8	p.Ser189Phe	rs770403819	missense variant	-	NC_000019.10:g.1254348C>T	ExAC,gnomAD
MIDN	Q504T8	p.Ser190Leu	rs759182331	missense variant	-	NC_000019.10:g.1254351C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys192Phe	rs375261373	missense variant	-	NC_000019.10:g.1254357G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys192Tyr	rs375261373	missense variant	-	NC_000019.10:g.1254357G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys192Trp	rs751831100	missense variant	-	NC_000019.10:g.1254358C>G	gnomAD
MIDN	Q504T8	p.Arg193Gln	rs201314448	missense variant	-	NC_000019.10:g.1254360G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg193Trp	rs753752976	missense variant	-	NC_000019.10:g.1254359C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro194Leu	rs765322691	missense variant	-	NC_000019.10:g.1254363C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro194Ser	rs1451199531	missense variant	-	NC_000019.10:g.1254362C>T	gnomAD
MIDN	Q504T8	p.Pro194Ala	rs1451199531	missense variant	-	NC_000019.10:g.1254362C>G	gnomAD
MIDN	Q504T8	p.Val195Leu	rs372950930	missense variant	-	NC_000019.10:g.1254365G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val195Leu	rs372950930	missense variant	-	NC_000019.10:g.1254365G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser196Phe	rs1425659993	missense variant	-	NC_000019.10:g.1254369C>T	TOPMed
MIDN	Q504T8	p.Ala198Val	rs1367900582	missense variant	-	NC_000019.10:g.1254375C>T	TOPMed
MIDN	Q504T8	p.Ala199Thr	rs377245188	missense variant	-	NC_000019.10:g.1254377G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala199Val	rs748646040	missense variant	-	NC_000019.10:g.1254378C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg200Gln	rs755188181	missense variant	-	NC_000019.10:g.1254381G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro202Leu	rs771641098	missense variant	-	NC_000019.10:g.1254387C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro202Ser	rs369043794	missense variant	-	NC_000019.10:g.1254386C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro203Leu	rs373111260	missense variant	-	NC_000019.10:g.1254390C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro203Arg	rs373111260	missense variant	-	NC_000019.10:g.1254390C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val204GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.1254384_1254385insC	NCI-TCGA
MIDN	Q504T8	p.Val204Gly	rs1283703268	missense variant	-	NC_000019.10:g.1254393T>G	TOPMed
MIDN	Q504T8	p.Pro205Ser	rs371141933	missense variant	-	NC_000019.10:g.1254395C>T	ESP
MIDN	Q504T8	p.Pro205Leu	rs1215725627	missense variant	-	NC_000019.10:g.1254396C>T	TOPMed
MIDN	Q504T8	p.Thr206Pro	rs941670480	missense variant	-	NC_000019.10:g.1254398A>C	TOPMed,gnomAD
MIDN	Q504T8	p.Thr206Ala	rs941670480	missense variant	-	NC_000019.10:g.1254398A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Thr206Ile	rs556584144	missense variant	-	NC_000019.10:g.1254399C>T	gnomAD
MIDN	Q504T8	p.Thr206Asn	rs556584144	missense variant	-	NC_000019.10:g.1254399C>A	gnomAD
MIDN	Q504T8	p.Pro208Gln	rs376802436	missense variant	-	NC_000019.10:g.1254405C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro208Leu	rs376802436	missense variant	-	NC_000019.10:g.1254405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser209Tyr	rs1447725798	missense variant	-	NC_000019.10:g.1254408C>A	gnomAD
MIDN	Q504T8	p.Ser209Pro	rs1300816776	missense variant	-	NC_000019.10:g.1254407T>C	TOPMed
MIDN	Q504T8	p.Pro210Leu	rs371111878	missense variant	-	NC_000019.10:g.1254411C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro213Arg	rs1419568914	missense variant	-	NC_000019.10:g.1254420C>G	TOPMed
MIDN	Q504T8	p.Pro213Ser	rs1189136661	missense variant	-	NC_000019.10:g.1254419C>T	gnomAD
MIDN	Q504T8	p.Ser214Leu	rs1368295962	missense variant	-	NC_000019.10:g.1254423C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Pro215Leu	rs1161164175	missense variant	-	NC_000019.10:g.1254426C>T	gnomAD
MIDN	Q504T8	p.Gly219Cys	rs781569306	missense variant	-	NC_000019.10:g.1254437G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly219Val	rs752984194	missense variant	-	NC_000019.10:g.1254438G>T	ExAC,gnomAD
MIDN	Q504T8	p.Gly219Ser	rs781569306	missense variant	-	NC_000019.10:g.1254437G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly219Arg	rs781569306	missense variant	-	NC_000019.10:g.1254437G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg222Leu	rs550865023	missense variant	-	NC_000019.10:g.1254447G>T	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Arg222Pro	rs550865023	missense variant	-	NC_000019.10:g.1254447G>C	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Arg222Gln	rs550865023	missense variant	-	NC_000019.10:g.1254447G>A	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Arg222Trp	rs1339718301	missense variant	-	NC_000019.10:g.1254446C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Ala225Thr	rs1351601882	missense variant	-	NC_000019.10:g.1254455G>A	gnomAD
MIDN	Q504T8	p.Thr228Ala	rs779545651	missense variant	-	NC_000019.10:g.1254464A>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr229Asn	rs746625320	missense variant	-	NC_000019.10:g.1254468C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr229Ile	rs746625320	missense variant	-	NC_000019.10:g.1254468C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr229Ala	rs1350107810	missense variant	-	NC_000019.10:g.1254467A>G	gnomAD
MIDN	Q504T8	p.Cys230Phe	rs1441053430	missense variant	-	NC_000019.10:g.1254471G>T	gnomAD
MIDN	Q504T8	p.Pro231Leu	rs761507139	missense variant	-	NC_000019.10:g.1254474C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro231Ala	rs1234273229	missense variant	-	NC_000019.10:g.1254473C>G	gnomAD
MIDN	Q504T8	p.Pro231Arg	rs761507139	missense variant	-	NC_000019.10:g.1254474C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu232Asp	rs769687325	missense variant	-	NC_000019.10:g.1254478G>T	ExAC,gnomAD
MIDN	Q504T8	p.Glu232Lys	rs951155864	missense variant	-	NC_000019.10:g.1254476G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Glu232Gln	rs951155864	missense variant	-	NC_000019.10:g.1254476G>C	TOPMed,gnomAD
MIDN	Q504T8	p.Gln233Glu	rs759685503	missense variant	-	NC_000019.10:g.1254902C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln233Lys	rs759685503	missense variant	-	NC_000019.10:g.1254902C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met234Ile	rs369485715	missense variant	-	NC_000019.10:g.1254907G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met234Thr	rs767695604	missense variant	-	NC_000019.10:g.1254906T>C	ExAC,gnomAD
MIDN	Q504T8	p.Asp235Asn	rs1177041836	missense variant	-	NC_000019.10:g.1254908G>A	gnomAD
MIDN	Q504T8	p.Cys236Arg	rs760959993	missense variant	-	NC_000019.10:g.1254911T>C	ExAC,gnomAD
MIDN	Q504T8	p.Cys236Ser	rs796369265	missense variant	-	NC_000019.10:g.1254912G>C	TOPMed
MIDN	Q504T8	p.Pro238Leu	rs1383990322	missense variant	-	NC_000019.10:g.1254918C>T	gnomAD
MIDN	Q504T8	p.Pro238Ala	rs754226865	missense variant	-	NC_000019.10:g.1254917C>G	ExAC,gnomAD
MIDN	Q504T8	p.Pro238Ser	rs754226865	missense variant	-	NC_000019.10:g.1254917C>T	ExAC,gnomAD
MIDN	Q504T8	p.Thr239Met	rs765726789	missense variant	-	NC_000019.10:g.1254921C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr239Lys	rs765726789	missense variant	-	NC_000019.10:g.1254921C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr239Ser	COSM6083752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.1254920A>T	NCI-TCGA Cosmic
MIDN	Q504T8	p.Ser241Asn	rs369167917	missense variant	-	NC_000019.10:g.1254927G>A	ESP,gnomAD
MIDN	Q504T8	p.Ser241Arg	rs140723918	missense variant	-	NC_000019.10:g.1254928C>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser242Arg	rs1487220554	missense variant	-	NC_000019.10:g.1254931C>G	gnomAD
MIDN	Q504T8	p.Ser243Thr	rs1223047634	missense variant	-	NC_000019.10:g.1254933G>C	TOPMed
MIDN	Q504T8	p.Ser243Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1254933G>A	NCI-TCGA
MIDN	Q504T8	p.Pro246Arg	rs755812511	missense variant	-	NC_000019.10:g.1254942C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro246Leu	rs755812511	missense variant	-	NC_000019.10:g.1254942C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly247Cys	rs749058593	missense variant	-	NC_000019.10:g.1254944G>T	ExAC,gnomAD
MIDN	Q504T8	p.Gly247Ala	rs760344668	missense variant	-	NC_000019.10:g.1254945G>C	gnomAD
MIDN	Q504T8	p.Ala248Thr	rs774418163	missense variant	-	NC_000019.10:g.1254947G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala248Val	rs149674816	missense variant	-	NC_000019.10:g.1254948C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser249Asn	rs771979004	missense variant	-	NC_000019.10:g.1254951G>A	ExAC,gnomAD
MIDN	Q504T8	p.Thr250Ala	rs775674509	missense variant	-	NC_000019.10:g.1254953A>G	ExAC,gnomAD
MIDN	Q504T8	p.Thr251Arg	rs145605347	missense variant	-	NC_000019.10:g.1254957C>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr251Met	rs145605347	missense variant	-	NC_000019.10:g.1254957C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser252Cys	rs1315330602	missense variant	-	NC_000019.10:g.1254960C>G	gnomAD
MIDN	Q504T8	p.Ser252Pro	rs372488115	missense variant	-	NC_000019.10:g.1254959T>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr253Ser	rs762150212	missense variant	-	NC_000019.10:g.1254962A>T	ExAC,gnomAD
MIDN	Q504T8	p.Ser257Arg	rs750859694	missense variant	-	NC_000019.10:g.1254976C>G	ExAC,gnomAD
MIDN	Q504T8	p.Ser257Asn	rs141486022	missense variant	-	NC_000019.10:g.1254975G>A	ESP
MIDN	Q504T8	p.Pro258Leu	COSM3528748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.1254978C>T	NCI-TCGA Cosmic
MIDN	Q504T8	p.Ala259Val	rs758975948	missense variant	-	NC_000019.10:g.1254981C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala259Asp	rs758975948	missense variant	-	NC_000019.10:g.1254981C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg261Gly	rs776406415	missense variant	-	NC_000019.10:g.1254986C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg261Cys	rs776406415	missense variant	-	NC_000019.10:g.1254986C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg261His	rs1239127438	missense variant	-	NC_000019.10:g.1254987G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Arg261AlaPheSerTerUnkUnk	COSM1390515	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.1254981C>-	NCI-TCGA Cosmic
MIDN	Q504T8	p.Ser262Phe	rs777565691	missense variant	-	NC_000019.10:g.1254990C>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg263Gln	rs571984011	missense variant	-	NC_000019.10:g.1254993G>A	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Pro265Arg	rs778856412	missense variant	-	NC_000019.10:g.1254999C>G	ExAC,gnomAD
MIDN	Q504T8	p.Gly266Ser	rs772073371	missense variant	-	NC_000019.10:g.1255001G>A	ExAC,gnomAD
MIDN	Q504T8	p.Val268Ile	rs138120774	missense variant	-	NC_000019.10:g.1255007G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu270Lys	rs917487436	missense variant	-	NC_000019.10:g.1255013G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Glu270Ter	COSM991290	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.1255013G>T	NCI-TCGA Cosmic
MIDN	Q504T8	p.Phe272Leu	rs950121331	missense variant	-	NC_000019.10:g.1255019T>C	TOPMed,gnomAD
MIDN	Q504T8	p.His275Gln	rs773648336	missense variant	-	NC_000019.10:g.1255030C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.His275Tyr	rs560928353	missense variant	-	NC_000019.10:g.1255028C>T	gnomAD
MIDN	Q504T8	p.Ala276Thr	rs766876307	missense variant	-	NC_000019.10:g.1255031G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala276Gly	rs752070614	missense variant	-	NC_000019.10:g.1255032C>G	ExAC,gnomAD
MIDN	Q504T8	p.Ala276Ser	COSM709966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.1255031G>T	NCI-TCGA Cosmic
MIDN	Q504T8	p.Pro277Leu	rs760220991	missense variant	-	NC_000019.10:g.1255035C>T	ExAC,gnomAD
MIDN	Q504T8	p.Gly278Trp	COSM6149617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.1255037G>T	NCI-TCGA Cosmic
MIDN	Q504T8	p.Val279Ile	rs753475621	missense variant	-	NC_000019.10:g.1255040G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser281Ter	rs778805669	stop gained	-	NC_000019.10:g.1255047C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser281Leu	rs778805669	missense variant	-	NC_000019.10:g.1255047C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly282Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1255049G>A	NCI-TCGA
MIDN	Q504T8	p.Thr283Ile	rs899672358	missense variant	-	NC_000019.10:g.1255053C>T	TOPMed
MIDN	Q504T8	p.Ser285Cys	rs750214013	missense variant	-	NC_000019.10:g.1255059C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser285Phe	rs750214013	missense variant	-	NC_000019.10:g.1255059C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr287Met	rs756131224	missense variant	-	NC_000019.10:g.1255425C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu288Pro	rs749487603	missense variant	-	NC_000019.10:g.1255428T>C	ExAC,gnomAD
MIDN	Q504T8	p.His289Gln	rs1472282455	missense variant	-	NC_000019.10:g.1255432C>A	gnomAD
MIDN	Q504T8	p.His289Tyr	rs1054118396	missense variant	-	NC_000019.10:g.1255430C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Asn291Ser	rs1419768768	missense variant	-	NC_000019.10:g.1255437A>G	gnomAD
MIDN	Q504T8	p.Asn291Asp	rs1381684807	missense variant	-	NC_000019.10:g.1255436A>G	gnomAD
MIDN	Q504T8	p.Cys292Trp	rs1382620894	missense variant	-	NC_000019.10:g.1255441C>G	gnomAD
MIDN	Q504T8	p.Gln293Glu	rs1415982338	missense variant	-	NC_000019.10:g.1255442C>G	gnomAD
MIDN	Q504T8	p.Gln293Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1255443A>T	NCI-TCGA
MIDN	Q504T8	p.Asp294Asn	rs948691530	missense variant	-	NC_000019.10:g.1255445G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Asp294His	rs948691530	missense variant	-	NC_000019.10:g.1255445G>C	TOPMed,gnomAD
MIDN	Q504T8	p.Ser295Gly	rs1450791583	missense variant	-	NC_000019.10:g.1255448A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Ser295Asn	rs757443719	missense variant	-	NC_000019.10:g.1255449G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ser295Arg	rs1377830878	missense variant	-	NC_000019.10:g.1255450C>A	gnomAD
MIDN	Q504T8	p.Gly297Arg	rs746209008	missense variant	-	NC_000019.10:g.1255454G>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg298Gln	rs143719550	missense variant	-	NC_000019.10:g.1255458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg298Trp	rs370103542	missense variant	-	NC_000019.10:g.1255457C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro299Leu	rs747519561	missense variant	-	NC_000019.10:g.1255461C>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg300Trp	rs769305020	missense variant	-	NC_000019.10:g.1255463C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg300Gln	rs1439787680	missense variant	-	NC_000019.10:g.1255464G>A	gnomAD
MIDN	Q504T8	p.Arg301His	rs762569175	missense variant	-	NC_000019.10:g.1255467G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg301Cys	rs1362021177	missense variant	-	NC_000019.10:g.1255466C>T	gnomAD
MIDN	Q504T8	p.Arg301Ser	rs1362021177	missense variant	-	NC_000019.10:g.1255466C>A	gnomAD
MIDN	Q504T8	p.Ile303Val	rs774057147	missense variant	-	NC_000019.10:g.1255472A>G	ExAC,gnomAD
MIDN	Q504T8	p.Gly304Asp	rs752565935	missense variant	-	NC_000019.10:g.1255476G>A	ExAC,gnomAD
MIDN	Q504T8	p.Gly304Ser	rs369704822	missense variant	-	NC_000019.10:g.1255475G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ile306Val	rs368745605	missense variant	-	NC_000019.10:g.1255481A>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln308Pro	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1255488A>C	NCI-TCGA
MIDN	Q504T8	p.Ile309Met	rs907385547	missense variant	-	NC_000019.10:g.1255492C>G	TOPMed,gnomAD
MIDN	Q504T8	p.Asp312Glu	rs1004318853	missense variant	-	NC_000019.10:g.1255501C>A	TOPMed,gnomAD
MIDN	Q504T8	p.Asp312Asn	rs1343315031	missense variant	-	NC_000019.10:g.1255499G>A	gnomAD
MIDN	Q504T8	p.Ala316Thr	rs746153442	missense variant	-	NC_000019.10:g.1255511G>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg318Trp	rs901299658	missense variant	-	NC_000019.10:g.1255517C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Arg318Gln	rs758781666	missense variant	-	NC_000019.10:g.1255518G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.His319Arg	rs148123521	missense variant	-	NC_000019.10:g.1255521A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.His319Tyr	rs747466564	missense variant	-	NC_000019.10:g.1255520C>T	ExAC,gnomAD
MIDN	Q504T8	p.Gly322Ser	rs1393051918	missense variant	-	NC_000019.10:g.1255529G>A	gnomAD
MIDN	Q504T8	p.Pro324His	rs770532270	missense variant	-	NC_000019.10:g.1255536C>A	ExAC,gnomAD
MIDN	Q504T8	p.Pro325Ser	rs1156414180	missense variant	-	NC_000019.10:g.1255538C>T	TOPMed
MIDN	Q504T8	p.Pro325Leu	rs1220880950	missense variant	-	NC_000019.10:g.1255539C>T	gnomAD
MIDN	Q504T8	p.Ser326Leu	rs1418165624	missense variant	-	NC_000019.10:g.1255542C>T	TOPMed
MIDN	Q504T8	p.Ala328Gly	rs775287482	missense variant	-	NC_000019.10:g.1255548C>G	ExAC,gnomAD
MIDN	Q504T8	p.Ala328Val	rs775287482	missense variant	-	NC_000019.10:g.1255548C>T	ExAC,gnomAD
MIDN	Q504T8	p.Gln329His	rs372010057	missense variant	-	NC_000019.10:g.1255552G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg331His	rs753884875	missense variant	-	NC_000019.10:g.1255557G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg331Cys	rs763911167	missense variant	-	NC_000019.10:g.1255556C>T	ExAC,gnomAD
MIDN	Q504T8	p.His333Gln	rs61742309	missense variant	-	NC_000019.10:g.1255564C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.His333Gln	rs61742309	missense variant	-	NC_000019.10:g.1255564C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala334Ser	rs758714390	missense variant	-	NC_000019.10:g.1255565G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala334Thr	rs758714390	missense variant	-	NC_000019.10:g.1255565G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln335Arg	rs751836719	missense variant	-	NC_000019.10:g.1255569A>G	ExAC,gnomAD
MIDN	Q504T8	p.Gln335His	rs1477368148	missense variant	-	NC_000019.10:g.1255570G>C	gnomAD
MIDN	Q504T8	p.Cys336Tyr	rs1231030612	missense variant	-	NC_000019.10:g.1255572G>A	gnomAD
MIDN	Q504T8	p.Ser337Pro	rs150627531	missense variant	-	NC_000019.10:g.1255574T>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser337Thr	rs150627531	missense variant	-	NC_000019.10:g.1255574T>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro338Leu	rs368341629	missense variant	-	NC_000019.10:g.1255578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro338Gln	rs368341629	missense variant	-	NC_000019.10:g.1255578C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro338Arg	rs368341629	missense variant	-	NC_000019.10:g.1255578C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala339Val	rs1299332312	missense variant	-	NC_000019.10:g.1255581C>T	gnomAD
MIDN	Q504T8	p.Ser340Leu	rs1380821444	missense variant	-	NC_000019.10:g.1255584C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Pro341Leu	rs916497220	missense variant	-	NC_000019.10:g.1255587C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Pro341Ser	rs745476081	missense variant	-	NC_000019.10:g.1255586C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro341Arg	rs916497220	missense variant	-	NC_000019.10:g.1255587C>G	TOPMed,gnomAD
MIDN	Q504T8	p.Ala342Val	rs775164553	missense variant	-	NC_000019.10:g.1255590C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro343Arg	rs1286561055	missense variant	-	NC_000019.10:g.1255593C>G	gnomAD
MIDN	Q504T8	p.Pro343Ser	rs760387260	missense variant	-	NC_000019.10:g.1255592C>T	ExAC,gnomAD
MIDN	Q504T8	p.Asp344Asn	rs537901815	missense variant	-	NC_000019.10:g.1255595G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala346Ser	rs572411883	missense variant	-	NC_000019.10:g.1255601G>T	ExAC,gnomAD
MIDN	Q504T8	p.Ala346Thr	rs572411883	missense variant	-	NC_000019.10:g.1255601G>A	ExAC,gnomAD
MIDN	Q504T8	p.Pro347Thr	rs187496777	missense variant	-	NC_000019.10:g.1255604C>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro347Leu	rs1453278520	missense variant	-	NC_000019.10:g.1255605C>T	TOPMed
MIDN	Q504T8	p.Pro347Ser	rs187496777	missense variant	-	NC_000019.10:g.1255604C>T	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr350Asn	rs750505892	missense variant	-	NC_000019.10:g.1255614C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr350Ile	rs750505892	missense variant	-	NC_000019.10:g.1255614C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys352Phe	rs948365922	missense variant	-	NC_000019.10:g.1255620G>T	TOPMed,gnomAD
MIDN	Q504T8	p.Cys352Arg	rs1360385206	missense variant	-	NC_000019.10:g.1255619T>C	gnomAD
MIDN	Q504T8	p.Glu353Lys	rs768320010	missense variant	-	NC_000019.10:g.1255622G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu353Val	rs781621709	missense variant	-	NC_000019.10:g.1255623A>T	ExAC,gnomAD
MIDN	Q504T8	p.Lys354Met	rs1313914947	missense variant	-	NC_000019.10:g.1255626A>T	TOPMed,gnomAD
MIDN	Q504T8	p.Lys354Thr	rs1313914947	missense variant	-	NC_000019.10:g.1255626A>C	TOPMed,gnomAD
MIDN	Q504T8	p.Leu355Val	rs1241608054	missense variant	-	NC_000019.10:g.1255628C>G	gnomAD
MIDN	Q504T8	p.Thr356Ala	rs375858262	missense variant	-	NC_000019.10:g.1255631A>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr356Ser	rs375858262	missense variant	-	NC_000019.10:g.1255631A>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr356Met	rs142253784	missense variant	-	NC_000019.10:g.1255632C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala357Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1255634G>T	NCI-TCGA
MIDN	Q504T8	p.Ala358Val	rs746690125	missense variant	-	NC_000019.10:g.1255638C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala358Thr	rs866456084	missense variant	-	NC_000019.10:g.1255637G>A	gnomAD
MIDN	Q504T8	p.Pro359Leu	rs776504138	missense variant	-	NC_000019.10:g.1255641C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro359Ser	rs373393011	missense variant	-	NC_000019.10:g.1255640C>T	ESP,TOPMed,gnomAD
MIDN	Q504T8	p.Ser360GlnPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.1255638C>-	NCI-TCGA
MIDN	Q504T8	p.Ala361Gly	rs769818681	missense variant	-	NC_000019.10:g.1255647C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala361Val	rs769818681	missense variant	-	NC_000019.10:g.1255647C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly366Ser	rs1465794325	missense variant	-	NC_000019.10:g.1255661G>A	gnomAD
MIDN	Q504T8	p.Gly366Asp	rs1405019786	missense variant	-	NC_000019.10:g.1255662G>A	TOPMed
MIDN	Q504T8	p.Arg371Cys	rs1164743688	missense variant	-	NC_000019.10:g.1255676C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Pro375Ser	rs753084988	missense variant	-	NC_000019.10:g.1255688C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro375His	rs1028967377	missense variant	-	NC_000019.10:g.1255689C>A	TOPMed
MIDN	Q504T8	p.Pro376Ser	rs539386845	missense variant	-	NC_000019.10:g.1255691C>T	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Pro376Leu	rs377416779	missense variant	-	NC_000019.10:g.1255692C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly377Val	rs1301207246	missense variant	-	NC_000019.10:g.1256995G>T	gnomAD
MIDN	Q504T8	p.Asp378Val	rs770879927	missense variant	-	NC_000019.10:g.1256998A>T	ExAC,gnomAD
MIDN	Q504T8	p.Asp378Glu	rs9823	missense variant	-	NC_000019.10:g.1256999C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg379Trp	rs139717027	missense variant	-	NC_000019.10:g.1257000C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg379Gln	rs775635166	missense variant	-	NC_000019.10:g.1257001G>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg381Trp	rs760894675	missense variant	-	NC_000019.10:g.1257006C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg381Gln	rs376980746	missense variant	-	NC_000019.10:g.1257007G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln382His	rs1358802007	missense variant	-	NC_000019.10:g.1257011G>C	TOPMed,gnomAD
MIDN	Q504T8	p.Asn385Asp	rs1220987146	missense variant	-	NC_000019.10:g.1257018A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Arg386Gly	rs777006467	missense variant	-	NC_000019.10:g.1257021C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg386His	rs1488829360	missense variant	-	NC_000019.10:g.1257022G>A	gnomAD
MIDN	Q504T8	p.Arg386Cys	rs777006467	missense variant	-	NC_000019.10:g.1257021C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala387Thr	rs561185140	missense variant	-	NC_000019.10:g.1257024G>A	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Thr388Met	rs149895689	missense variant	-	NC_000019.10:g.1257028C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg389His	rs1423452435	missense variant	-	NC_000019.10:g.1257031G>A	gnomAD
MIDN	Q504T8	p.Arg389Cys	rs766939917	missense variant	-	NC_000019.10:g.1257030C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys390Arg	rs890143559	missense variant	-	NC_000019.10:g.1257033T>C	TOPMed,gnomAD
MIDN	Q504T8	p.Cys390Gly	rs890143559	missense variant	-	NC_000019.10:g.1257033T>G	TOPMed,gnomAD
MIDN	Q504T8	p.Lys391Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1257037A>G	NCI-TCGA
MIDN	Q504T8	p.Glu393Gln	rs1281382030	missense variant	-	NC_000019.10:g.1257042G>C	TOPMed
MIDN	Q504T8	p.Arg394Gln	rs1317423292	missense variant	-	NC_000019.10:g.1257046G>A	gnomAD
MIDN	Q504T8	p.Arg394Trp	rs1438859755	missense variant	-	NC_000019.10:g.1257045C>T	TOPMed
MIDN	Q504T8	p.Gln396Leu	rs1326903964	missense variant	-	NC_000019.10:g.1257052A>T	TOPMed
MIDN	Q504T8	p.Leu398Val	rs1443565627	missense variant	-	NC_000019.10:g.1257057C>G	TOPMed
MIDN	Q504T8	p.Gln400Arg	rs777616787	missense variant	-	NC_000019.10:g.1257064A>G	ExAC,gnomAD
MIDN	Q504T8	p.Gln401His	rs753656348	missense variant	-	NC_000019.10:g.1257068G>C	ExAC,gnomAD
MIDN	Q504T8	p.Arg403Trp	rs905382315	missense variant	-	NC_000019.10:g.1257072C>T	TOPMed
MIDN	Q504T8	p.Arg403Gln	rs371624768	missense variant	-	NC_000019.10:g.1257073G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg405Ser	rs778898762	missense variant	-	NC_000019.10:g.1257078C>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg405Cys	rs778898762	missense variant	-	NC_000019.10:g.1257078C>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg405His	rs772126592	missense variant	-	NC_000019.10:g.1257079G>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg405Leu	rs772126592	missense variant	-	NC_000019.10:g.1257079G>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg406Gly	rs1211888524	missense variant	-	NC_000019.10:g.1257081A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Lys407Arg	rs780142860	missense variant	-	NC_000019.10:g.1257085A>G	ExAC,gnomAD
MIDN	Q504T8	p.Arg410Gln	rs1035267831	missense variant	-	NC_000019.10:g.1257094G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Asp411Glu	rs762221657	missense variant	-	NC_000019.10:g.1257098C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp411Gly	rs776900685	missense variant	-	NC_000019.10:g.1257097A>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp411His	rs1448188445	missense variant	-	NC_000019.10:g.1257096G>C	gnomAD
MIDN	Q504T8	p.Ala412Thr	rs773701369	missense variant	-	NC_000019.10:g.1257099G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala412Val	rs763398874	missense variant	-	NC_000019.10:g.1257100C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg413Gln	rs760302974	missense variant	-	NC_000019.10:g.1257103G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly414Cys	rs763834960	missense variant	-	NC_000019.10:g.1257105G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly414Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1257105G>C	NCI-TCGA
MIDN	Q504T8	p.Pro415Leu	rs1333492951	missense variant	-	NC_000019.10:g.1257109C>T	gnomAD
MIDN	Q504T8	p.Pro415Ser	COSM225397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.1257108C>T	NCI-TCGA Cosmic
MIDN	Q504T8	p.Tyr416Ter	rs757020602	stop gained	-	NC_000019.10:g.1257113C>A	ExAC,gnomAD
MIDN	Q504T8	p.Tyr416Cys	COSM4074359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.1257112A>G	NCI-TCGA Cosmic
MIDN	Q504T8	p.His417Gln	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1257116C>A	NCI-TCGA
MIDN	Q504T8	p.Ser419Pro	rs764949586	missense variant	-	NC_000019.10:g.1257120T>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro420Ala	rs1347434139	missense variant	-	NC_000019.10:g.1257123C>G	TOPMed,gnomAD
MIDN	Q504T8	p.Arg422Leu	rs148644773	missense variant	-	NC_000019.10:g.1257130G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg422Cys	rs143942530	missense variant	-	NC_000019.10:g.1257129C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg422His	rs148644773	missense variant	-	NC_000019.10:g.1257130G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala424Pro	rs1460625227	missense variant	-	NC_000019.10:g.1257135G>C	gnomAD
MIDN	Q504T8	p.Gly425Arg	rs147781717	missense variant	-	NC_000019.10:g.1257138G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly425Ser	rs147781717	missense variant	-	NC_000019.10:g.1257138G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly425Asp	COSM3403772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.1257139G>A	NCI-TCGA Cosmic
MIDN	Q504T8	p.Arg426His	rs773469970	missense variant	-	NC_000019.10:g.1257142G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg426Cys	rs770154213	missense variant	-	NC_000019.10:g.1257141C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg426Leu	rs773469970	missense variant	-	NC_000019.10:g.1257142G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg426Pro	rs773469970	missense variant	-	NC_000019.10:g.1257142G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp428Glu	rs1418401940	missense variant	-	NC_000019.10:g.1257149C>G	TOPMed
MIDN	Q504T8	p.Asp428Asn	rs539586624	missense variant	-	NC_000019.10:g.1257147G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser429Asn	rs61743656	missense variant	-	NC_000019.10:g.1257151G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser429Gly	rs1186868811	missense variant	-	NC_000019.10:g.1257150A>G	TOPMed
MIDN	Q504T8	p.Ser429Thr	rs61743656	missense variant	-	NC_000019.10:g.1257151G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser429Cys	rs1186868811	missense variant	-	NC_000019.10:g.1257150A>T	TOPMed
MIDN	Q504T8	p.Ser430Arg	COSM3748042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.1257155T>G	NCI-TCGA Cosmic
MIDN	Q504T8	p.Gly433Arg	rs761405102	missense variant	-	NC_000019.10:g.1257162G>A	ExAC,gnomAD
MIDN	Q504T8	p.Gly434AlaPheSerTerUnkUnk	COSM1390518	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.1257162G>-	NCI-TCGA Cosmic
MIDN	Q504T8	p.Gly435Val	rs890720169	missense variant	-	NC_000019.10:g.1257169G>T	gnomAD
MIDN	Q504T8	p.Gly435Arg	rs570181170	missense variant	-	NC_000019.10:g.1257168G>C	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly435Ser	rs570181170	missense variant	-	NC_000019.10:g.1257168G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly436Ser	rs537671815	missense variant	-	NC_000019.10:g.1257171G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly436Val	rs147606566	missense variant	-	NC_000019.10:g.1257172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly436Asp	rs147606566	missense variant	-	NC_000019.10:g.1257172G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser437Gly	rs781280500	missense variant	-	NC_000019.10:g.1257174A>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser439Asn	rs372267981	missense variant	-	NC_000019.10:g.1257181G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser439Ile	rs372267981	missense variant	-	NC_000019.10:g.1257181G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser439Arg	rs201498147	missense variant	-	NC_000019.10:g.1257182C>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser439Thr	rs372267981	missense variant	-	NC_000019.10:g.1257181G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu440Lys	rs955924688	missense variant	-	NC_000019.10:g.1257183G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Glu440Gln	NCI-TCGA novel	missense variant	-	NC_000019.10:g.1257183G>C	NCI-TCGA
MIDN	Q504T8	p.Gly443Ser	rs771481143	missense variant	-	NC_000019.10:g.1257192G>A	ExAC,gnomAD
MIDN	Q504T8	p.Leu444Ser	rs1332846558	missense variant	-	NC_000019.10:g.1257196T>C	gnomAD
MIDN	Q504T8	p.Gly445Ser	rs746383092	missense variant	-	NC_000019.10:g.1257198G>A	ExAC,gnomAD
MIDN	Q504T8	p.Leu446Arg	rs201428769	missense variant	-	NC_000019.10:g.1257202T>G	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu446Ile	rs768243814	missense variant	-	NC_000019.10:g.1257201C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp447Asn	rs764769740	missense variant	-	NC_000019.10:g.1257204G>A	ExAC,gnomAD
MIDN	Q504T8	p.Glu449Lys	rs1190136040	missense variant	-	NC_000019.10:g.1257210G>A	TOPMed
MIDN	Q504T8	p.Val452Leu	rs1344096619	missense variant	-	NC_000019.10:g.1257219G>T	gnomAD
MIDN	Q504T8	p.Val452Met	rs1344096619	missense variant	-	NC_000019.10:g.1257219G>A	gnomAD
MIDN	Q504T8	p.Trp453Gly	rs1402228240	missense variant	-	NC_000019.10:g.1257222T>G	gnomAD
MIDN	Q504T8	p.Glu456Asp	rs1326621390	missense variant	-	NC_000019.10:g.1257233A>T	gnomAD
MIDN	Q504T8	p.Pro459Thr	rs1226189478	missense variant	-	NC_000019.10:g.1257240C>A	gnomAD
MIDN	Q504T8	p.Glu464ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.1257253_1257254insA	NCI-TCGA
MIDN	Q504T8	p.Val466Met	rs752687659	missense variant	-	NC_000019.10:g.1257261G>A	ExAC,gnomAD
MIDN	Q504T8	p.Val466Ala	rs756283647	missense variant	-	NC_000019.10:g.1257262T>C	ExAC,gnomAD
MIDN	Q504T8	p.Ala468Thr	rs200865184	missense variant	-	NC_000019.10:g.1257267G>A	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Pro5Arg	rs982104669	missense variant	-	NC_000019.10:g.1250310C>G	TOPMed
MIDN	Q504T8	p.Pro5Ser	rs971142541	missense variant	-	NC_000019.10:g.1250309C>T	TOPMed
MIDN	Q504T8	p.Pro5Ala	rs971142541	missense variant	-	NC_000019.10:g.1250309C>G	TOPMed
MIDN	Q504T8	p.Gly6Asp	rs1478701659	missense variant	-	NC_000019.10:g.1250313G>A	TOPMed
MIDN	Q504T8	p.Arg9Gly	rs1181265400	missense variant	-	NC_000019.10:g.1250321C>G	TOPMed
MIDN	Q504T8	p.Ser10Arg	rs1036893755	missense variant	-	NC_000019.10:g.1250326C>G	TOPMed
MIDN	Q504T8	p.Ser10Gly	rs907976425	missense variant	-	NC_000019.10:g.1250324A>G	TOPMed
MIDN	Q504T8	p.Ser10Asn	rs940735755	missense variant	-	NC_000019.10:g.1250325G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Cys11Trp	rs1176003588	missense variant	-	NC_000019.10:g.1250329C>G	gnomAD
MIDN	Q504T8	p.Ala15Asp	rs757450452	missense variant	-	NC_000019.10:g.1250340C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala15Gly	rs757450452	missense variant	-	NC_000019.10:g.1250340C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala15Val	rs757450452	missense variant	-	NC_000019.10:g.1250340C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro16Leu	rs919756257	missense variant	-	NC_000019.10:g.1250343C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Pro16Ser	rs1320520510	missense variant	-	NC_000019.10:g.1250342C>T	TOPMed
MIDN	Q504T8	p.Cys20Gly	rs202070687	missense variant	-	NC_000019.10:g.1250354T>G	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly23Cys	rs758754948	missense variant	-	NC_000019.10:g.1250363G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly23Arg	rs758754948	missense variant	-	NC_000019.10:g.1250363G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly23Ser	rs758754948	missense variant	-	NC_000019.10:g.1250363G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro24Arg	rs1410496610	missense variant	-	NC_000019.10:g.1250367C>G	gnomAD
MIDN	Q504T8	p.Pro24Thr	rs1050117643	missense variant	-	NC_000019.10:g.1250366C>A	TOPMed
MIDN	Q504T8	p.Glu27Lys	rs752001667	missense variant	-	NC_000019.10:g.1250375G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu27Ala	rs755477061	missense variant	-	NC_000019.10:g.1250376A>C	ExAC,gnomAD
MIDN	Q504T8	p.Ala29Thr	rs1415940793	missense variant	-	NC_000019.10:g.1250381G>A	TOPMed
MIDN	Q504T8	p.Pro30Ser	rs1312429457	missense variant	-	NC_000019.10:g.1250384C>T	gnomAD
MIDN	Q504T8	p.Met31Ile	rs777300728	missense variant	-	NC_000019.10:g.1250389G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met31Ile	rs777300728	missense variant	-	NC_000019.10:g.1250389G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met31Val	rs1209656447	missense variant	-	NC_000019.10:g.1250387A>G	gnomAD
MIDN	Q504T8	p.Ser32Asn	rs770526250	missense variant	-	NC_000019.10:g.1250391G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser32Thr	rs770526250	missense variant	-	NC_000019.10:g.1250391G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser32Gly	rs748774097	missense variant	-	NC_000019.10:g.1250390A>G	ExAC
MIDN	Q504T8	p.Ala34Val	rs745584780	missense variant	-	NC_000019.10:g.1250397C>T	ExAC,gnomAD
MIDN	Q504T8	p.His36Tyr	rs775440270	missense variant	-	NC_000019.10:g.1250402C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser37Cys	rs368352874	missense variant	-	NC_000019.10:g.1250405A>T	ESP
MIDN	Q504T8	p.Thr39Met	rs768499988	missense variant	-	NC_000019.10:g.1250412C>T	ExAC,gnomAD
MIDN	Q504T8	p.Gly40Asp	rs1307423084	missense variant	-	NC_000019.10:g.1250415G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Gly40Ala	rs1307423084	missense variant	-	NC_000019.10:g.1250415G>C	TOPMed,gnomAD
MIDN	Q504T8	p.Gly40Ser	rs1430563088	missense variant	-	NC_000019.10:g.1250414G>A	gnomAD
MIDN	Q504T8	p.Thr41Ser	rs776678714	missense variant	-	NC_000019.10:g.1250418C>G	ExAC,gnomAD
MIDN	Q504T8	p.Arg42His	rs765422422	missense variant	-	NC_000019.10:g.1250421G>A	ExAC,gnomAD
MIDN	Q504T8	p.Tyr43Cys	rs750594313	missense variant	-	NC_000019.10:g.1250424A>G	ExAC,gnomAD
MIDN	Q504T8	p.Asp44Asn	rs1300877196	missense variant	-	NC_000019.10:g.1250426G>A	gnomAD
MIDN	Q504T8	p.Leu45Val	rs766660331	missense variant	-	NC_000019.10:g.1250429C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro48Ser	rs755432431	missense variant	-	NC_000019.10:g.1250438C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro49Leu	rs781531680	missense variant	-	NC_000019.10:g.1250442C>T	ExAC,gnomAD
MIDN	Q504T8	p.Asp50Asn	rs756719134	missense variant	-	NC_000019.10:g.1250444G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly55Ala	rs779945506	missense variant	-	NC_000019.10:g.1250460G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly55Glu	rs779945506	missense variant	-	NC_000019.10:g.1250460G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu56Met	rs1407120806	missense variant	-	NC_000019.10:g.1250462C>A	gnomAD
MIDN	Q504T8	p.Lys58Gln	rs768534431	missense variant	-	NC_000019.10:g.1250468A>C	ExAC,gnomAD
MIDN	Q504T8	p.Lys58Asn	rs1349796220	missense variant	-	NC_000019.10:g.1250470G>C	gnomAD
MIDN	Q504T8	p.Arg59Trp	rs776426661	missense variant	-	NC_000019.10:g.1250471C>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg63His	rs769702282	missense variant	-	NC_000019.10:g.1250484G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu64Phe	rs763117290	missense variant	-	NC_000019.10:g.1250486C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Lys65Asn	rs1229527549	missense variant	-	NC_000019.10:g.1250491A>C	TOPMed,gnomAD
MIDN	Q504T8	p.Val66Met	rs751831953	missense variant	-	NC_000019.10:g.1250492G>A	ExAC,gnomAD
MIDN	Q504T8	p.Lys68Gln	rs1267741866	missense variant	-	NC_000019.10:g.1250498A>C	TOPMed
MIDN	Q504T8	p.Lys68Arg	rs759792077	missense variant	-	NC_000019.10:g.1250499A>G	ExAC,gnomAD
MIDN	Q504T8	p.Lys68Asn	rs767994744	missense variant	-	NC_000019.10:g.1250500G>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg70His	rs756660095	missense variant	-	NC_000019.10:g.1250505G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala72Thr	rs779820891	missense variant	-	NC_000019.10:g.1250510G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala72Val	rs746724270	missense variant	-	NC_000019.10:g.1250511C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala72Gly	rs746724270	missense variant	-	NC_000019.10:g.1250511C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu73Val	rs754714322	missense variant	-	NC_000019.10:g.1250513C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu74Phe	rs1241748417	missense variant	-	NC_000019.10:g.1250516C>T	TOPMed
MIDN	Q504T8	p.Asp77Glu	rs781052615	missense variant	-	NC_000019.10:g.1250527C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr78Asn	rs1389895531	missense variant	-	NC_000019.10:g.1250529C>A	TOPMed,gnomAD
MIDN	Q504T8	p.Thr78Ile	rs1389895531	missense variant	-	NC_000019.10:g.1250529C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Ser81Asn	rs770442876	missense variant	-	NC_000019.10:g.1251570G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ser82Leu	rs1461023008	missense variant	-	NC_000019.10:g.1251573C>T	gnomAD
MIDN	Q504T8	p.Lys84Arg	rs767007304	missense variant	-	NC_000019.10:g.1251579A>G	ExAC,gnomAD
MIDN	Q504T8	p.Lys84Asn	rs375683589	missense variant	-	NC_000019.10:g.1251580G>C	ESP,ExAC,gnomAD
MIDN	Q504T8	p.Phe88Cys	rs1296528392	missense variant	-	NC_000019.10:g.1251591T>G	gnomAD
MIDN	Q504T8	p.Gly89Ser	rs1225321020	missense variant	-	NC_000019.10:g.1251593G>A	gnomAD
MIDN	Q504T8	p.Gly91Asp	rs778888633	missense variant	-	NC_000019.10:g.1251600G>A	ExAC,gnomAD
MIDN	Q504T8	p.Gly91Val	rs778888633	missense variant	-	NC_000019.10:g.1251600G>T	ExAC,gnomAD
MIDN	Q504T8	p.Gly91Cys	rs144043116	missense variant	-	NC_000019.10:g.1251599G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp92Val	rs1270299097	missense variant	-	NC_000019.10:g.1251603A>T	gnomAD
MIDN	Q504T8	p.Ser94Thr	rs758491546	missense variant	-	NC_000019.10:g.1251609G>C	ExAC,gnomAD
MIDN	Q504T8	p.Glu103Ter	rs1167616422	stop gained	-	NC_000019.10:g.1251635G>T	gnomAD
MIDN	Q504T8	p.Met107Thr	rs1290717832	missense variant	-	NC_000019.10:g.1251648T>C	TOPMed
MIDN	Q504T8	p.Met107Val	rs745951617	missense variant	-	NC_000019.10:g.1251647A>G	ExAC,gnomAD
MIDN	Q504T8	p.Ser108Tyr	rs779362405	missense variant	-	NC_000019.10:g.1251840C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser108Phe	rs779362405	missense variant	-	NC_000019.10:g.1251840C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser108Cys	rs779362405	missense variant	-	NC_000019.10:g.1251840C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln109Arg	rs1371697914	missense variant	-	NC_000019.10:g.1251843A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Gln109Glu	rs1346880159	missense variant	-	NC_000019.10:g.1251842C>G	gnomAD
MIDN	Q504T8	p.Gln109Pro	rs1371697914	missense variant	-	NC_000019.10:g.1251843A>C	TOPMed,gnomAD
MIDN	Q504T8	p.Ala110Ser	rs1221286491	missense variant	-	NC_000019.10:g.1251845G>T	gnomAD
MIDN	Q504T8	p.Ala110Thr	rs1221286491	missense variant	-	NC_000019.10:g.1251845G>A	gnomAD
MIDN	Q504T8	p.Ala110Val	rs746431075	missense variant	-	NC_000019.10:g.1251846C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser111Leu	rs776121596	missense variant	-	NC_000019.10:g.1251849C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg112Lys	rs759296354	missense variant	-	NC_000019.10:g.1251852G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg112Ser	rs769350537	missense variant	-	NC_000019.10:g.1251853G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro113Leu	rs762620482	missense variant	-	NC_000019.10:g.1251855C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro113Ser	rs1205185771	missense variant	-	NC_000019.10:g.1251854C>T	gnomAD
MIDN	Q504T8	p.Pro113Arg	rs762620482	missense variant	-	NC_000019.10:g.1251855C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln115His	rs377700904	missense variant	-	NC_000019.10:g.1251862G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val117Leu	rs375835337	missense variant	-	NC_000019.10:g.1251866G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val117Leu	rs375835337	missense variant	-	NC_000019.10:g.1251866G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met118Leu	rs945811171	missense variant	-	NC_000019.10:g.1251869A>T	TOPMed
MIDN	Q504T8	p.Gln119Ter	rs1278177515	stop gained	-	NC_000019.10:g.1251872C>T	gnomAD
MIDN	Q504T8	p.Leu121Val	rs757558824	missense variant	-	NC_000019.10:g.1251878C>G	ExAC,gnomAD
MIDN	Q504T8	p.Glu122Gln	rs758934723	missense variant	-	NC_000019.10:g.1251881G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr127Arg	rs747586153	missense variant	-	NC_000019.10:g.1251897C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr127Lys	rs747586153	missense variant	-	NC_000019.10:g.1251897C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr127Met	rs747586153	missense variant	-	NC_000019.10:g.1251897C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val129Ile	rs1264499113	missense variant	-	NC_000019.10:g.1254167G>A	gnomAD
MIDN	Q504T8	p.Ser130Gly	rs1461310491	missense variant	-	NC_000019.10:g.1254170A>G	gnomAD
MIDN	Q504T8	p.Phe132Leu	rs1261868352	missense variant	-	NC_000019.10:g.1254178C>A	gnomAD
MIDN	Q504T8	p.Leu133Val	rs781181977	missense variant	-	NC_000019.10:g.1254179C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser134Leu	rs748137724	missense variant	-	NC_000019.10:g.1254183C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly135Asp	rs1475414307	missense variant	-	NC_000019.10:g.1254186G>A	gnomAD
MIDN	Q504T8	p.Arg136His	rs777832041	missense variant	-	NC_000019.10:g.1254189G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg136Cys	rs540283060	missense variant	-	NC_000019.10:g.1254188C>T	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg136Gly	rs540283060	missense variant	-	NC_000019.10:g.1254188C>G	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser137Trp	rs749475160	missense variant	-	NC_000019.10:g.1254192C>G	ExAC,gnomAD
MIDN	Q504T8	p.Thr140Ile	rs1201843362	missense variant	-	NC_000019.10:g.1254201C>T	TOPMed
MIDN	Q504T8	p.Asp147Asn	rs761280459	missense variant	-	NC_000019.10:g.1254221G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met149Val	rs367835894	missense variant	-	NC_000019.10:g.1254227A>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met150Ile	rs762418714	missense variant	-	NC_000019.10:g.1254232G>A	ExAC,gnomAD
MIDN	Q504T8	p.Phe151Leu	rs766023183	missense variant	-	NC_000019.10:g.1254235C>A	ExAC,gnomAD
MIDN	Q504T8	p.Val152Met	rs1259544499	missense variant	-	NC_000019.10:g.1254236G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Gln155His	rs1186999767	missense variant	-	NC_000019.10:g.1254247G>T	gnomAD
MIDN	Q504T8	p.Leu156Val	rs754784777	missense variant	-	NC_000019.10:g.1254248C>G	ExAC,gnomAD
MIDN	Q504T8	p.Ala157Ser	rs766611057	missense variant	-	NC_000019.10:g.1254251G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala157Thr	rs766611057	missense variant	-	NC_000019.10:g.1254251G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala158Thr	rs1417945925	missense variant	-	NC_000019.10:g.1254254G>A	gnomAD
MIDN	Q504T8	p.Ala161Val	rs1301581173	missense variant	-	NC_000019.10:g.1254264C>T	gnomAD
MIDN	Q504T8	p.Ala161Thr	rs1030971122	missense variant	-	NC_000019.10:g.1254263G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Leu163Arg	rs1302167084	missense variant	-	NC_000019.10:g.1254270T>G	TOPMed
MIDN	Q504T8	p.Gln164Leu	rs770960950	missense variant	-	NC_000019.10:g.1254273A>T	ExAC,gnomAD
MIDN	Q504T8	p.His165Arg	rs1224677681	missense variant	-	NC_000019.10:g.1254276A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Arg166His	rs956082972	missense variant	-	NC_000019.10:g.1254279G>A	TOPMed
MIDN	Q504T8	p.Arg166Gly	rs779192162	missense variant	-	NC_000019.10:g.1254278C>G	ExAC,gnomAD
MIDN	Q504T8	p.Val168Ala	rs929315605	missense variant	-	NC_000019.10:g.1254285T>C	TOPMed,gnomAD
MIDN	Q504T8	p.Ala170Thr	rs761213192	missense variant	-	NC_000019.10:g.1254290G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala171Ser	rs769262895	missense variant	-	NC_000019.10:g.1254293G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala171Thr	rs769262895	missense variant	-	NC_000019.10:g.1254293G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala172Pro	rs765860661	missense variant	-	NC_000019.10:g.1254296G>C	ExAC,gnomAD
MIDN	Q504T8	p.Ala172Val	rs1237817278	missense variant	-	NC_000019.10:g.1254297C>T	gnomAD
MIDN	Q504T8	p.Ala174Thr	rs759111690	missense variant	-	NC_000019.10:g.1254302G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala175Thr	rs201144803	missense variant	-	NC_000019.10:g.1254305G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala176Thr	rs777660170	missense variant	-	NC_000019.10:g.1254308G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala177Thr	rs1375729783	missense variant	-	NC_000019.10:g.1254311G>A	gnomAD
MIDN	Q504T8	p.Ala177Val	rs1444179233	missense variant	-	NC_000019.10:g.1254312C>T	gnomAD
MIDN	Q504T8	p.Ala178Val	rs757347314	missense variant	-	NC_000019.10:g.1254315C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala178Thr	rs1305151140	missense variant	-	NC_000019.10:g.1254314G>A	gnomAD
MIDN	Q504T8	p.Arg179Pro	rs562824172	missense variant	-	NC_000019.10:g.1254318G>C	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg179Gln	rs562824172	missense variant	-	NC_000019.10:g.1254318G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg179Trp	rs1338724071	missense variant	-	NC_000019.10:g.1254317C>T	TOPMed
MIDN	Q504T8	p.Gly180Glu	rs758580814	missense variant	-	NC_000019.10:g.1254321G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp181Val	rs368475536	missense variant	-	NC_000019.10:g.1254324A>T	ESP
MIDN	Q504T8	p.Asp181Asn	rs1195796182	missense variant	-	NC_000019.10:g.1254323G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Asp181Tyr	rs1195796182	missense variant	-	NC_000019.10:g.1254323G>T	TOPMed,gnomAD
MIDN	Q504T8	p.Ser183Asn	rs780471332	missense variant	-	NC_000019.10:g.1254330G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser183Thr	rs780471332	missense variant	-	NC_000019.10:g.1254330G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ile184Met	rs747345791	missense variant	-	NC_000019.10:g.1254334A>G	ExAC,gnomAD
MIDN	Q504T8	p.Ala185Thr	rs1052046589	missense variant	-	NC_000019.10:g.1254335G>A	TOPMed
MIDN	Q504T8	p.Ser186Phe	rs1410976374	missense variant	-	NC_000019.10:g.1254339C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Val188Leu	rs748612554	missense variant	-	NC_000019.10:g.1254344G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val188Glu	rs1327585655	missense variant	-	NC_000019.10:g.1254345T>A	gnomAD
MIDN	Q504T8	p.Val188Met	rs748612554	missense variant	-	NC_000019.10:g.1254344G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val188Leu	rs748612554	missense variant	-	NC_000019.10:g.1254344G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser189Phe	rs770403819	missense variant	-	NC_000019.10:g.1254348C>T	ExAC,gnomAD
MIDN	Q504T8	p.Ser190Leu	rs759182331	missense variant	-	NC_000019.10:g.1254351C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys192Phe	rs375261373	missense variant	-	NC_000019.10:g.1254357G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys192Tyr	rs375261373	missense variant	-	NC_000019.10:g.1254357G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys192Trp	rs751831100	missense variant	-	NC_000019.10:g.1254358C>G	gnomAD
MIDN	Q504T8	p.Arg193Gln	rs201314448	missense variant	-	NC_000019.10:g.1254360G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg193Trp	rs753752976	missense variant	-	NC_000019.10:g.1254359C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro194Leu	rs765322691	missense variant	-	NC_000019.10:g.1254363C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro194Ser	rs1451199531	missense variant	-	NC_000019.10:g.1254362C>T	gnomAD
MIDN	Q504T8	p.Pro194Ala	rs1451199531	missense variant	-	NC_000019.10:g.1254362C>G	gnomAD
MIDN	Q504T8	p.Val195Leu	rs372950930	missense variant	-	NC_000019.10:g.1254365G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val195Leu	rs372950930	missense variant	-	NC_000019.10:g.1254365G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser196Phe	rs1425659993	missense variant	-	NC_000019.10:g.1254369C>T	TOPMed
MIDN	Q504T8	p.Ala198Val	rs1367900582	missense variant	-	NC_000019.10:g.1254375C>T	TOPMed
MIDN	Q504T8	p.Ala199Val	rs748646040	missense variant	-	NC_000019.10:g.1254378C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala199Thr	rs377245188	missense variant	-	NC_000019.10:g.1254377G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg200Gln	rs755188181	missense variant	-	NC_000019.10:g.1254381G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro202Leu	rs771641098	missense variant	-	NC_000019.10:g.1254387C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro202Ser	rs369043794	missense variant	-	NC_000019.10:g.1254386C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro203Leu	rs373111260	missense variant	-	NC_000019.10:g.1254390C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro203Arg	rs373111260	missense variant	-	NC_000019.10:g.1254390C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Val204Gly	rs1283703268	missense variant	-	NC_000019.10:g.1254393T>G	TOPMed
MIDN	Q504T8	p.Pro205Leu	rs1215725627	missense variant	-	NC_000019.10:g.1254396C>T	TOPMed
MIDN	Q504T8	p.Pro205Ser	rs371141933	missense variant	-	NC_000019.10:g.1254395C>T	ESP
MIDN	Q504T8	p.Thr206Asn	rs556584144	missense variant	-	NC_000019.10:g.1254399C>A	gnomAD
MIDN	Q504T8	p.Thr206Ile	rs556584144	missense variant	-	NC_000019.10:g.1254399C>T	gnomAD
MIDN	Q504T8	p.Thr206Pro	rs941670480	missense variant	-	NC_000019.10:g.1254398A>C	TOPMed,gnomAD
MIDN	Q504T8	p.Thr206Ala	rs941670480	missense variant	-	NC_000019.10:g.1254398A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Pro208Leu	rs376802436	missense variant	-	NC_000019.10:g.1254405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro208Gln	rs376802436	missense variant	-	NC_000019.10:g.1254405C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser209Pro	rs1300816776	missense variant	-	NC_000019.10:g.1254407T>C	TOPMed
MIDN	Q504T8	p.Ser209Tyr	rs1447725798	missense variant	-	NC_000019.10:g.1254408C>A	gnomAD
MIDN	Q504T8	p.Pro210Leu	rs371111878	missense variant	-	NC_000019.10:g.1254411C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro213Ser	rs1189136661	missense variant	-	NC_000019.10:g.1254419C>T	gnomAD
MIDN	Q504T8	p.Pro213Arg	rs1419568914	missense variant	-	NC_000019.10:g.1254420C>G	TOPMed
MIDN	Q504T8	p.Ser214Leu	rs1368295962	missense variant	-	NC_000019.10:g.1254423C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Pro215Leu	rs1161164175	missense variant	-	NC_000019.10:g.1254426C>T	gnomAD
MIDN	Q504T8	p.Gly219Arg	rs781569306	missense variant	-	NC_000019.10:g.1254437G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly219Ser	rs781569306	missense variant	-	NC_000019.10:g.1254437G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly219Val	rs752984194	missense variant	-	NC_000019.10:g.1254438G>T	ExAC,gnomAD
MIDN	Q504T8	p.Gly219Cys	rs781569306	missense variant	-	NC_000019.10:g.1254437G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg222Pro	rs550865023	missense variant	-	NC_000019.10:g.1254447G>C	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Arg222Leu	rs550865023	missense variant	-	NC_000019.10:g.1254447G>T	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Arg222Gln	rs550865023	missense variant	-	NC_000019.10:g.1254447G>A	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Arg222Trp	rs1339718301	missense variant	-	NC_000019.10:g.1254446C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Ala225Thr	rs1351601882	missense variant	-	NC_000019.10:g.1254455G>A	gnomAD
MIDN	Q504T8	p.Thr228Ala	rs779545651	missense variant	-	NC_000019.10:g.1254464A>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr229Ala	rs1350107810	missense variant	-	NC_000019.10:g.1254467A>G	gnomAD
MIDN	Q504T8	p.Thr229Asn	rs746625320	missense variant	-	NC_000019.10:g.1254468C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr229Ile	rs746625320	missense variant	-	NC_000019.10:g.1254468C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys230Phe	rs1441053430	missense variant	-	NC_000019.10:g.1254471G>T	gnomAD
MIDN	Q504T8	p.Pro231Leu	rs761507139	missense variant	-	NC_000019.10:g.1254474C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro231Ala	rs1234273229	missense variant	-	NC_000019.10:g.1254473C>G	gnomAD
MIDN	Q504T8	p.Pro231Arg	rs761507139	missense variant	-	NC_000019.10:g.1254474C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu232Asp	rs769687325	missense variant	-	NC_000019.10:g.1254478G>T	ExAC,gnomAD
MIDN	Q504T8	p.Glu232Gln	rs951155864	missense variant	-	NC_000019.10:g.1254476G>C	TOPMed,gnomAD
MIDN	Q504T8	p.Glu232Lys	rs951155864	missense variant	-	NC_000019.10:g.1254476G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Gln233Glu	rs759685503	missense variant	-	NC_000019.10:g.1254902C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln233Lys	rs759685503	missense variant	-	NC_000019.10:g.1254902C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met234Ile	rs369485715	missense variant	-	NC_000019.10:g.1254907G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Met234Thr	rs767695604	missense variant	-	NC_000019.10:g.1254906T>C	ExAC,gnomAD
MIDN	Q504T8	p.Asp235Asn	rs1177041836	missense variant	-	NC_000019.10:g.1254908G>A	gnomAD
MIDN	Q504T8	p.Cys236Arg	rs760959993	missense variant	-	NC_000019.10:g.1254911T>C	ExAC,gnomAD
MIDN	Q504T8	p.Cys236Ser	rs796369265	missense variant	-	NC_000019.10:g.1254912G>C	TOPMed
MIDN	Q504T8	p.Pro238Ala	rs754226865	missense variant	-	NC_000019.10:g.1254917C>G	ExAC,gnomAD
MIDN	Q504T8	p.Pro238Leu	rs1383990322	missense variant	-	NC_000019.10:g.1254918C>T	gnomAD
MIDN	Q504T8	p.Pro238Ser	rs754226865	missense variant	-	NC_000019.10:g.1254917C>T	ExAC,gnomAD
MIDN	Q504T8	p.Thr239Lys	rs765726789	missense variant	-	NC_000019.10:g.1254921C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr239Met	rs765726789	missense variant	-	NC_000019.10:g.1254921C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser241Arg	rs140723918	missense variant	-	NC_000019.10:g.1254928C>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser241Asn	rs369167917	missense variant	-	NC_000019.10:g.1254927G>A	ESP,gnomAD
MIDN	Q504T8	p.Ser242Arg	rs1487220554	missense variant	-	NC_000019.10:g.1254931C>G	gnomAD
MIDN	Q504T8	p.Ser243Thr	rs1223047634	missense variant	-	NC_000019.10:g.1254933G>C	TOPMed
MIDN	Q504T8	p.Pro246Arg	rs755812511	missense variant	-	NC_000019.10:g.1254942C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro246Leu	rs755812511	missense variant	-	NC_000019.10:g.1254942C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly247Ala	rs760344668	missense variant	-	NC_000019.10:g.1254945G>C	gnomAD
MIDN	Q504T8	p.Gly247Cys	rs749058593	missense variant	-	NC_000019.10:g.1254944G>T	ExAC,gnomAD
MIDN	Q504T8	p.Ala248Val	rs149674816	missense variant	-	NC_000019.10:g.1254948C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala248Thr	rs774418163	missense variant	-	NC_000019.10:g.1254947G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ser249Asn	rs771979004	missense variant	-	NC_000019.10:g.1254951G>A	ExAC,gnomAD
MIDN	Q504T8	p.Thr250Ala	rs775674509	missense variant	-	NC_000019.10:g.1254953A>G	ExAC,gnomAD
MIDN	Q504T8	p.Thr251Met	rs145605347	missense variant	-	NC_000019.10:g.1254957C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr251Arg	rs145605347	missense variant	-	NC_000019.10:g.1254957C>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser252Pro	rs372488115	missense variant	-	NC_000019.10:g.1254959T>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser252Cys	rs1315330602	missense variant	-	NC_000019.10:g.1254960C>G	gnomAD
MIDN	Q504T8	p.Thr253Ser	rs762150212	missense variant	-	NC_000019.10:g.1254962A>T	ExAC,gnomAD
MIDN	Q504T8	p.Ser257Arg	rs750859694	missense variant	-	NC_000019.10:g.1254976C>G	ExAC,gnomAD
MIDN	Q504T8	p.Ser257Asn	rs141486022	missense variant	-	NC_000019.10:g.1254975G>A	ESP
MIDN	Q504T8	p.Ala259Asp	rs758975948	missense variant	-	NC_000019.10:g.1254981C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala259Val	rs758975948	missense variant	-	NC_000019.10:g.1254981C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg261Cys	rs776406415	missense variant	-	NC_000019.10:g.1254986C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg261Gly	rs776406415	missense variant	-	NC_000019.10:g.1254986C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg261His	rs1239127438	missense variant	-	NC_000019.10:g.1254987G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Ser262Phe	rs777565691	missense variant	-	NC_000019.10:g.1254990C>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg263Gln	rs571984011	missense variant	-	NC_000019.10:g.1254993G>A	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Pro265Arg	rs778856412	missense variant	-	NC_000019.10:g.1254999C>G	ExAC,gnomAD
MIDN	Q504T8	p.Gly266Ser	rs772073371	missense variant	-	NC_000019.10:g.1255001G>A	ExAC,gnomAD
MIDN	Q504T8	p.Val268Ile	rs138120774	missense variant	-	NC_000019.10:g.1255007G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu270Lys	rs917487436	missense variant	-	NC_000019.10:g.1255013G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Phe272Leu	rs950121331	missense variant	-	NC_000019.10:g.1255019T>C	TOPMed,gnomAD
MIDN	Q504T8	p.His275Tyr	rs560928353	missense variant	-	NC_000019.10:g.1255028C>T	gnomAD
MIDN	Q504T8	p.His275Gln	rs773648336	missense variant	-	NC_000019.10:g.1255030C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala276Gly	rs752070614	missense variant	-	NC_000019.10:g.1255032C>G	ExAC,gnomAD
MIDN	Q504T8	p.Ala276Thr	rs766876307	missense variant	-	NC_000019.10:g.1255031G>A	ExAC,gnomAD
MIDN	Q504T8	p.Pro277Leu	rs760220991	missense variant	-	NC_000019.10:g.1255035C>T	ExAC,gnomAD
MIDN	Q504T8	p.Val279Ile	rs753475621	missense variant	-	NC_000019.10:g.1255040G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser281Ter	rs778805669	stop gained	-	NC_000019.10:g.1255047C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser281Leu	rs778805669	missense variant	-	NC_000019.10:g.1255047C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr283Ile	rs899672358	missense variant	-	NC_000019.10:g.1255053C>T	TOPMed
MIDN	Q504T8	p.Ser285Phe	rs750214013	missense variant	-	NC_000019.10:g.1255059C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser285Cys	rs750214013	missense variant	-	NC_000019.10:g.1255059C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr287Met	rs756131224	missense variant	-	NC_000019.10:g.1255425C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu288Pro	rs749487603	missense variant	-	NC_000019.10:g.1255428T>C	ExAC,gnomAD
MIDN	Q504T8	p.His289Gln	rs1472282455	missense variant	-	NC_000019.10:g.1255432C>A	gnomAD
MIDN	Q504T8	p.His289Tyr	rs1054118396	missense variant	-	NC_000019.10:g.1255430C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Asn291Ser	rs1419768768	missense variant	-	NC_000019.10:g.1255437A>G	gnomAD
MIDN	Q504T8	p.Asn291Asp	rs1381684807	missense variant	-	NC_000019.10:g.1255436A>G	gnomAD
MIDN	Q504T8	p.Cys292Trp	rs1382620894	missense variant	-	NC_000019.10:g.1255441C>G	gnomAD
MIDN	Q504T8	p.Gln293Glu	rs1415982338	missense variant	-	NC_000019.10:g.1255442C>G	gnomAD
MIDN	Q504T8	p.Asp294Asn	rs948691530	missense variant	-	NC_000019.10:g.1255445G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Asp294His	rs948691530	missense variant	-	NC_000019.10:g.1255445G>C	TOPMed,gnomAD
MIDN	Q504T8	p.Ser295Arg	rs1377830878	missense variant	-	NC_000019.10:g.1255450C>A	gnomAD
MIDN	Q504T8	p.Ser295Asn	rs757443719	missense variant	-	NC_000019.10:g.1255449G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ser295Gly	rs1450791583	missense variant	-	NC_000019.10:g.1255448A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Gly297Arg	rs746209008	missense variant	-	NC_000019.10:g.1255454G>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg298Gln	rs143719550	missense variant	-	NC_000019.10:g.1255458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg298Trp	rs370103542	missense variant	-	NC_000019.10:g.1255457C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro299Leu	rs747519561	missense variant	-	NC_000019.10:g.1255461C>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg300Gln	rs1439787680	missense variant	-	NC_000019.10:g.1255464G>A	gnomAD
MIDN	Q504T8	p.Arg300Trp	rs769305020	missense variant	-	NC_000019.10:g.1255463C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg301His	rs762569175	missense variant	-	NC_000019.10:g.1255467G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg301Cys	rs1362021177	missense variant	-	NC_000019.10:g.1255466C>T	gnomAD
MIDN	Q504T8	p.Arg301Ser	rs1362021177	missense variant	-	NC_000019.10:g.1255466C>A	gnomAD
MIDN	Q504T8	p.Ile303Val	rs774057147	missense variant	-	NC_000019.10:g.1255472A>G	ExAC,gnomAD
MIDN	Q504T8	p.Gly304Asp	rs752565935	missense variant	-	NC_000019.10:g.1255476G>A	ExAC,gnomAD
MIDN	Q504T8	p.Gly304Ser	rs369704822	missense variant	-	NC_000019.10:g.1255475G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ile306Val	rs368745605	missense variant	-	NC_000019.10:g.1255481A>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ile309Met	rs907385547	missense variant	-	NC_000019.10:g.1255492C>G	TOPMed,gnomAD
MIDN	Q504T8	p.Asp312Asn	rs1343315031	missense variant	-	NC_000019.10:g.1255499G>A	gnomAD
MIDN	Q504T8	p.Asp312Glu	rs1004318853	missense variant	-	NC_000019.10:g.1255501C>A	TOPMed,gnomAD
MIDN	Q504T8	p.Ala316Thr	rs746153442	missense variant	-	NC_000019.10:g.1255511G>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg318Trp	rs901299658	missense variant	-	NC_000019.10:g.1255517C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Arg318Gln	rs758781666	missense variant	-	NC_000019.10:g.1255518G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.His319Arg	rs148123521	missense variant	-	NC_000019.10:g.1255521A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.His319Tyr	rs747466564	missense variant	-	NC_000019.10:g.1255520C>T	ExAC,gnomAD
MIDN	Q504T8	p.Gly322Ser	rs1393051918	missense variant	-	NC_000019.10:g.1255529G>A	gnomAD
MIDN	Q504T8	p.Pro324His	rs770532270	missense variant	-	NC_000019.10:g.1255536C>A	ExAC,gnomAD
MIDN	Q504T8	p.Pro325Leu	rs1220880950	missense variant	-	NC_000019.10:g.1255539C>T	gnomAD
MIDN	Q504T8	p.Pro325Ser	rs1156414180	missense variant	-	NC_000019.10:g.1255538C>T	TOPMed
MIDN	Q504T8	p.Ser326Leu	rs1418165624	missense variant	-	NC_000019.10:g.1255542C>T	TOPMed
MIDN	Q504T8	p.Ala328Val	rs775287482	missense variant	-	NC_000019.10:g.1255548C>T	ExAC,gnomAD
MIDN	Q504T8	p.Ala328Gly	rs775287482	missense variant	-	NC_000019.10:g.1255548C>G	ExAC,gnomAD
MIDN	Q504T8	p.Gln329His	rs372010057	missense variant	-	NC_000019.10:g.1255552G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg331Cys	rs763911167	missense variant	-	NC_000019.10:g.1255556C>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg331His	rs753884875	missense variant	-	NC_000019.10:g.1255557G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.His333Gln	rs61742309	missense variant	-	NC_000019.10:g.1255564C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.His333Gln	rs61742309	missense variant	-	NC_000019.10:g.1255564C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala334Ser	rs758714390	missense variant	-	NC_000019.10:g.1255565G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala334Thr	rs758714390	missense variant	-	NC_000019.10:g.1255565G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln335Arg	rs751836719	missense variant	-	NC_000019.10:g.1255569A>G	ExAC,gnomAD
MIDN	Q504T8	p.Gln335His	rs1477368148	missense variant	-	NC_000019.10:g.1255570G>C	gnomAD
MIDN	Q504T8	p.Cys336Tyr	rs1231030612	missense variant	-	NC_000019.10:g.1255572G>A	gnomAD
MIDN	Q504T8	p.Ser337Thr	rs150627531	missense variant	-	NC_000019.10:g.1255574T>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser337Pro	rs150627531	missense variant	-	NC_000019.10:g.1255574T>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro338Arg	rs368341629	missense variant	-	NC_000019.10:g.1255578C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro338Gln	rs368341629	missense variant	-	NC_000019.10:g.1255578C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro338Leu	rs368341629	missense variant	-	NC_000019.10:g.1255578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala339Val	rs1299332312	missense variant	-	NC_000019.10:g.1255581C>T	gnomAD
MIDN	Q504T8	p.Ser340Leu	rs1380821444	missense variant	-	NC_000019.10:g.1255584C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Pro341Ser	rs745476081	missense variant	-	NC_000019.10:g.1255586C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro341Arg	rs916497220	missense variant	-	NC_000019.10:g.1255587C>G	TOPMed,gnomAD
MIDN	Q504T8	p.Pro341Leu	rs916497220	missense variant	-	NC_000019.10:g.1255587C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Ala342Val	rs775164553	missense variant	-	NC_000019.10:g.1255590C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro343Ser	rs760387260	missense variant	-	NC_000019.10:g.1255592C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro343Arg	rs1286561055	missense variant	-	NC_000019.10:g.1255593C>G	gnomAD
MIDN	Q504T8	p.Asp344Asn	rs537901815	missense variant	-	NC_000019.10:g.1255595G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala346Ser	rs572411883	missense variant	-	NC_000019.10:g.1255601G>T	ExAC,gnomAD
MIDN	Q504T8	p.Ala346Thr	rs572411883	missense variant	-	NC_000019.10:g.1255601G>A	ExAC,gnomAD
MIDN	Q504T8	p.Pro347Leu	rs1453278520	missense variant	-	NC_000019.10:g.1255605C>T	TOPMed
MIDN	Q504T8	p.Pro347Ser	rs187496777	missense variant	-	NC_000019.10:g.1255604C>T	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro347Thr	rs187496777	missense variant	-	NC_000019.10:g.1255604C>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr350Ile	rs750505892	missense variant	-	NC_000019.10:g.1255614C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr350Asn	rs750505892	missense variant	-	NC_000019.10:g.1255614C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Cys352Phe	rs948365922	missense variant	-	NC_000019.10:g.1255620G>T	TOPMed,gnomAD
MIDN	Q504T8	p.Cys352Arg	rs1360385206	missense variant	-	NC_000019.10:g.1255619T>C	gnomAD
MIDN	Q504T8	p.Glu353Lys	rs768320010	missense variant	-	NC_000019.10:g.1255622G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu353Val	rs781621709	missense variant	-	NC_000019.10:g.1255623A>T	ExAC,gnomAD
MIDN	Q504T8	p.Lys354Met	rs1313914947	missense variant	-	NC_000019.10:g.1255626A>T	TOPMed,gnomAD
MIDN	Q504T8	p.Lys354Thr	rs1313914947	missense variant	-	NC_000019.10:g.1255626A>C	TOPMed,gnomAD
MIDN	Q504T8	p.Leu355Val	rs1241608054	missense variant	-	NC_000019.10:g.1255628C>G	gnomAD
MIDN	Q504T8	p.Thr356Ala	rs375858262	missense variant	-	NC_000019.10:g.1255631A>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr356Ser	rs375858262	missense variant	-	NC_000019.10:g.1255631A>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Thr356Met	rs142253784	missense variant	-	NC_000019.10:g.1255632C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala358Val	rs746690125	missense variant	-	NC_000019.10:g.1255638C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala358Thr	rs866456084	missense variant	-	NC_000019.10:g.1255637G>A	gnomAD
MIDN	Q504T8	p.Pro359Leu	rs776504138	missense variant	-	NC_000019.10:g.1255641C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro359Ser	rs373393011	missense variant	-	NC_000019.10:g.1255640C>T	ESP,TOPMed,gnomAD
MIDN	Q504T8	p.Ala361Val	rs769818681	missense variant	-	NC_000019.10:g.1255647C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala361Gly	rs769818681	missense variant	-	NC_000019.10:g.1255647C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly366Asp	rs1405019786	missense variant	-	NC_000019.10:g.1255662G>A	TOPMed
MIDN	Q504T8	p.Gly366Ser	rs1465794325	missense variant	-	NC_000019.10:g.1255661G>A	gnomAD
MIDN	Q504T8	p.Arg371Cys	rs1164743688	missense variant	-	NC_000019.10:g.1255676C>T	TOPMed,gnomAD
MIDN	Q504T8	p.Pro375His	rs1028967377	missense variant	-	NC_000019.10:g.1255689C>A	TOPMed
MIDN	Q504T8	p.Pro375Ser	rs753084988	missense variant	-	NC_000019.10:g.1255688C>T	ExAC,gnomAD
MIDN	Q504T8	p.Pro376Leu	rs377416779	missense variant	-	NC_000019.10:g.1255692C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro376Ser	rs539386845	missense variant	-	NC_000019.10:g.1255691C>T	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Gly377Val	rs1301207246	missense variant	-	NC_000019.10:g.1256995G>T	gnomAD
MIDN	Q504T8	p.Asp378Val	rs770879927	missense variant	-	NC_000019.10:g.1256998A>T	ExAC,gnomAD
MIDN	Q504T8	p.Asp378Glu	rs9823	missense variant	-	NC_000019.10:g.1256999C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg379Gln	rs775635166	missense variant	-	NC_000019.10:g.1257001G>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg379Trp	rs139717027	missense variant	-	NC_000019.10:g.1257000C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg381Gln	rs376980746	missense variant	-	NC_000019.10:g.1257007G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg381Trp	rs760894675	missense variant	-	NC_000019.10:g.1257006C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gln382His	rs1358802007	missense variant	-	NC_000019.10:g.1257011G>C	TOPMed,gnomAD
MIDN	Q504T8	p.Asn385Asp	rs1220987146	missense variant	-	NC_000019.10:g.1257018A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Arg386His	rs1488829360	missense variant	-	NC_000019.10:g.1257022G>A	gnomAD
MIDN	Q504T8	p.Arg386Gly	rs777006467	missense variant	-	NC_000019.10:g.1257021C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg386Cys	rs777006467	missense variant	-	NC_000019.10:g.1257021C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala387Thr	rs561185140	missense variant	-	NC_000019.10:g.1257024G>A	1000Genomes,ExAC,gnomAD
MIDN	Q504T8	p.Thr388Met	rs149895689	missense variant	-	NC_000019.10:g.1257028C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg389Cys	rs766939917	missense variant	-	NC_000019.10:g.1257030C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg389His	rs1423452435	missense variant	-	NC_000019.10:g.1257031G>A	gnomAD
MIDN	Q504T8	p.Cys390Gly	rs890143559	missense variant	-	NC_000019.10:g.1257033T>G	TOPMed,gnomAD
MIDN	Q504T8	p.Cys390Arg	rs890143559	missense variant	-	NC_000019.10:g.1257033T>C	TOPMed,gnomAD
MIDN	Q504T8	p.Glu393Gln	rs1281382030	missense variant	-	NC_000019.10:g.1257042G>C	TOPMed
MIDN	Q504T8	p.Arg394Trp	rs1438859755	missense variant	-	NC_000019.10:g.1257045C>T	TOPMed
MIDN	Q504T8	p.Arg394Gln	rs1317423292	missense variant	-	NC_000019.10:g.1257046G>A	gnomAD
MIDN	Q504T8	p.Gln396Leu	rs1326903964	missense variant	-	NC_000019.10:g.1257052A>T	TOPMed
MIDN	Q504T8	p.Leu398Val	rs1443565627	missense variant	-	NC_000019.10:g.1257057C>G	TOPMed
MIDN	Q504T8	p.Gln400Arg	rs777616787	missense variant	-	NC_000019.10:g.1257064A>G	ExAC,gnomAD
MIDN	Q504T8	p.Gln401His	rs753656348	missense variant	-	NC_000019.10:g.1257068G>C	ExAC,gnomAD
MIDN	Q504T8	p.Arg403Trp	rs905382315	missense variant	-	NC_000019.10:g.1257072C>T	TOPMed
MIDN	Q504T8	p.Arg403Gln	rs371624768	missense variant	-	NC_000019.10:g.1257073G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg405His	rs772126592	missense variant	-	NC_000019.10:g.1257079G>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg405Cys	rs778898762	missense variant	-	NC_000019.10:g.1257078C>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg405Leu	rs772126592	missense variant	-	NC_000019.10:g.1257079G>T	ExAC,gnomAD
MIDN	Q504T8	p.Arg405Ser	rs778898762	missense variant	-	NC_000019.10:g.1257078C>A	ExAC,gnomAD
MIDN	Q504T8	p.Arg406Gly	rs1211888524	missense variant	-	NC_000019.10:g.1257081A>G	TOPMed,gnomAD
MIDN	Q504T8	p.Lys407Arg	rs780142860	missense variant	-	NC_000019.10:g.1257085A>G	ExAC,gnomAD
MIDN	Q504T8	p.Arg410Gln	rs1035267831	missense variant	-	NC_000019.10:g.1257094G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Asp411Glu	rs762221657	missense variant	-	NC_000019.10:g.1257098C>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp411Gly	rs776900685	missense variant	-	NC_000019.10:g.1257097A>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp411His	rs1448188445	missense variant	-	NC_000019.10:g.1257096G>C	gnomAD
MIDN	Q504T8	p.Ala412Thr	rs773701369	missense variant	-	NC_000019.10:g.1257099G>A	ExAC,gnomAD
MIDN	Q504T8	p.Ala412Val	rs763398874	missense variant	-	NC_000019.10:g.1257100C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg413Gln	rs760302974	missense variant	-	NC_000019.10:g.1257103G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly414Cys	rs763834960	missense variant	-	NC_000019.10:g.1257105G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro415Leu	rs1333492951	missense variant	-	NC_000019.10:g.1257109C>T	gnomAD
MIDN	Q504T8	p.Tyr416Ter	rs757020602	stop gained	-	NC_000019.10:g.1257113C>A	ExAC,gnomAD
MIDN	Q504T8	p.Ser419Pro	rs764949586	missense variant	-	NC_000019.10:g.1257120T>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Pro420Ala	rs1347434139	missense variant	-	NC_000019.10:g.1257123C>G	TOPMed,gnomAD
MIDN	Q504T8	p.Arg422Cys	rs143942530	missense variant	-	NC_000019.10:g.1257129C>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg422Leu	rs148644773	missense variant	-	NC_000019.10:g.1257130G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg422His	rs148644773	missense variant	-	NC_000019.10:g.1257130G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ala424Pro	rs1460625227	missense variant	-	NC_000019.10:g.1257135G>C	gnomAD
MIDN	Q504T8	p.Gly425Arg	rs147781717	missense variant	-	NC_000019.10:g.1257138G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly425Ser	rs147781717	missense variant	-	NC_000019.10:g.1257138G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg426His	rs773469970	missense variant	-	NC_000019.10:g.1257142G>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg426Cys	rs770154213	missense variant	-	NC_000019.10:g.1257141C>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg426Leu	rs773469970	missense variant	-	NC_000019.10:g.1257142G>T	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Arg426Pro	rs773469970	missense variant	-	NC_000019.10:g.1257142G>C	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp428Glu	rs1418401940	missense variant	-	NC_000019.10:g.1257149C>G	TOPMed
MIDN	Q504T8	p.Asp428Asn	rs539586624	missense variant	-	NC_000019.10:g.1257147G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser429Thr	rs61743656	missense variant	-	NC_000019.10:g.1257151G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser429Asn	rs61743656	missense variant	-	NC_000019.10:g.1257151G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser429Gly	rs1186868811	missense variant	-	NC_000019.10:g.1257150A>G	TOPMed
MIDN	Q504T8	p.Ser429Cys	rs1186868811	missense variant	-	NC_000019.10:g.1257150A>T	TOPMed
MIDN	Q504T8	p.Gly433Arg	rs761405102	missense variant	-	NC_000019.10:g.1257162G>A	ExAC,gnomAD
MIDN	Q504T8	p.Gly435Ser	rs570181170	missense variant	-	NC_000019.10:g.1257168G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly435Val	rs890720169	missense variant	-	NC_000019.10:g.1257169G>T	gnomAD
MIDN	Q504T8	p.Gly435Arg	rs570181170	missense variant	-	NC_000019.10:g.1257168G>C	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly436Val	rs147606566	missense variant	-	NC_000019.10:g.1257172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly436Ser	rs537671815	missense variant	-	NC_000019.10:g.1257171G>A	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Gly436Asp	rs147606566	missense variant	-	NC_000019.10:g.1257172G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser437Gly	rs781280500	missense variant	-	NC_000019.10:g.1257174A>G	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser439Ile	rs372267981	missense variant	-	NC_000019.10:g.1257181G>T	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser439Asn	rs372267981	missense variant	-	NC_000019.10:g.1257181G>A	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser439Arg	rs201498147	missense variant	-	NC_000019.10:g.1257182C>G	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Ser439Thr	rs372267981	missense variant	-	NC_000019.10:g.1257181G>C	ESP,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Glu440Lys	rs955924688	missense variant	-	NC_000019.10:g.1257183G>A	TOPMed,gnomAD
MIDN	Q504T8	p.Gly443Ser	rs771481143	missense variant	-	NC_000019.10:g.1257192G>A	ExAC,gnomAD
MIDN	Q504T8	p.Leu444Ser	rs1332846558	missense variant	-	NC_000019.10:g.1257196T>C	gnomAD
MIDN	Q504T8	p.Gly445Ser	rs746383092	missense variant	-	NC_000019.10:g.1257198G>A	ExAC,gnomAD
MIDN	Q504T8	p.Leu446Arg	rs201428769	missense variant	-	NC_000019.10:g.1257202T>G	1000Genomes,ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Leu446Ile	rs768243814	missense variant	-	NC_000019.10:g.1257201C>A	ExAC,TOPMed,gnomAD
MIDN	Q504T8	p.Asp447Asn	rs764769740	missense variant	-	NC_000019.10:g.1257204G>A	ExAC,gnomAD
MIDN	Q504T8	p.Glu449Lys	rs1190136040	missense variant	-	NC_000019.10:g.1257210G>A	TOPMed
MIDN	Q504T8	p.Val452Leu	rs1344096619	missense variant	-	NC_000019.10:g.1257219G>T	gnomAD
MIDN	Q504T8	p.Val452Met	rs1344096619	missense variant	-	NC_000019.10:g.1257219G>A	gnomAD
MIDN	Q504T8	p.Trp453Gly	rs1402228240	missense variant	-	NC_000019.10:g.1257222T>G	gnomAD
MIDN	Q504T8	p.Glu456Asp	rs1326621390	missense variant	-	NC_000019.10:g.1257233A>T	gnomAD
MIDN	Q504T8	p.Pro459Thr	rs1226189478	missense variant	-	NC_000019.10:g.1257240C>A	gnomAD
MIDN	Q504T8	p.Val466Met	rs752687659	missense variant	-	NC_000019.10:g.1257261G>A	ExAC,gnomAD
MIDN	Q504T8	p.Val466Ala	rs756283647	missense variant	-	NC_000019.10:g.1257262T>C	ExAC,gnomAD
MIDN	Q504T8	p.Ala468Thr	rs200865184	missense variant	-	NC_000019.10:g.1257267G>A	1000Genomes,ExAC,gnomAD
PKDCC	Q504Y2	p.Arg3Pro	rs1231456931	missense variant	-	NC_000002.12:g.42048207G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg3His	rs1231456931	missense variant	-	NC_000002.12:g.42048207G>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg3Cys	rs1346687208	missense variant	-	NC_000002.12:g.42048206C>T	gnomAD
PKDCC	Q504Y2	p.Arg4Gln	rs1485977489	missense variant	-	NC_000002.12:g.42048210G>A	gnomAD
PKDCC	Q504Y2	p.Arg5Trp	rs1268143326	missense variant	-	NC_000002.12:g.42048212C>T	TOPMed
PKDCC	Q504Y2	p.Ala6Thr	rs1240260550	missense variant	-	NC_000002.12:g.42048215G>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala6Gly	rs758398844	missense variant	-	NC_000002.12:g.42048216C>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala6Val	rs758398844	missense variant	-	NC_000002.12:g.42048216C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala7Pro	rs1363782979	missense variant	-	NC_000002.12:g.42048218G>C	TOPMed
PKDCC	Q504Y2	p.Ala7Glu	rs1186882610	missense variant	-	NC_000002.12:g.42048219C>A	gnomAD
PKDCC	Q504Y2	p.Ala9Val	rs1391077543	missense variant	-	NC_000002.12:g.42048225C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala10Val	rs1033131332	missense variant	-	NC_000002.12:g.42048228C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala10Glu	rs1033131332	missense variant	-	NC_000002.12:g.42048228C>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly11Ser	rs1396921050	missense variant	-	NC_000002.12:g.42048230G>A	gnomAD
PKDCC	Q504Y2	p.Ser15Cys	rs1377786491	missense variant	-	NC_000002.12:g.42048243C>G	TOPMed
PKDCC	Q504Y2	p.Phe16Cys	rs1197713542	missense variant	-	NC_000002.12:g.42048246T>G	TOPMed
PKDCC	Q504Y2	p.Phe16Leu	rs1318295586	missense variant	-	NC_000002.12:g.42048247C>A	gnomAD
PKDCC	Q504Y2	p.Leu17Gln	rs1479273376	missense variant	-	NC_000002.12:g.42048249T>A	TOPMed
PKDCC	Q504Y2	p.Gly19Asp	rs746808292	missense variant	-	NC_000002.12:g.42048255G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Gly19Val	rs746808292	missense variant	-	NC_000002.12:g.42048255G>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Val21Ile	rs1438212729	missense variant	-	NC_000002.12:g.42048260G>A	gnomAD
PKDCC	Q504Y2	p.Leu22Pro	rs1345169400	missense variant	-	NC_000002.12:g.42048264T>C	gnomAD
PKDCC	Q504Y2	p.Leu22Phe	rs1305021180	missense variant	-	NC_000002.12:g.42048263C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Asn23Thr	rs1282149311	missense variant	-	NC_000002.12:g.42048267A>C	gnomAD
PKDCC	Q504Y2	p.Asn23Tyr	rs1222676195	missense variant	-	NC_000002.12:g.42048266A>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Asn23Lys	rs913757077	missense variant	-	NC_000002.12:g.42048268C>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Val24Leu	rs1209132606	missense variant	-	NC_000002.12:g.42048269G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Val24Met	rs1209132606	missense variant	-	NC_000002.12:g.42048269G>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Val24Leu	rs1209132606	missense variant	-	NC_000002.12:g.42048269G>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala27Ser	rs1252070385	missense variant	-	NC_000002.12:g.42048278G>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala27Pro	rs1252070385	missense variant	-	NC_000002.12:g.42048278G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro28Thr	rs1468226159	missense variant	-	NC_000002.12:g.42048281C>A	gnomAD
PKDCC	Q504Y2	p.Gly29Arg	rs1255090537	missense variant	-	NC_000002.12:g.42048284G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser30Leu	rs768518999	missense variant	-	NC_000002.12:g.42048288C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly36Ser	rs1335622852	missense variant	-	NC_000002.12:g.42048305G>A	TOPMed
PKDCC	Q504Y2	p.Ser38Cys	rs1406442141	missense variant	-	NC_000002.12:g.42048312C>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro39Thr	rs1445174364	missense variant	-	NC_000002.12:g.42048314C>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro39Ser	rs1445174364	missense variant	-	NC_000002.12:g.42048314C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro39Ala	rs1445174364	missense variant	-	NC_000002.12:g.42048314C>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Glu40Gln	rs1413752418	missense variant	-	NC_000002.12:g.42048317G>C	TOPMed
PKDCC	Q504Y2	p.Ser42Leu	rs1373582759	missense variant	-	NC_000002.12:g.42048324C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro43Gln	rs1230732775	missense variant	-	NC_000002.12:g.42048327C>A	TOPMed
PKDCC	Q504Y2	p.Pro45Leu	rs920932597	missense variant	-	NC_000002.12:g.42048333C>T	TOPMed
PKDCC	Q504Y2	p.Gly46Arg	rs1411460145	missense variant	-	NC_000002.12:g.42048335G>C	gnomAD
PKDCC	Q504Y2	p.Gly46Asp	rs780735438	missense variant	-	NC_000002.12:g.42048336G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly48Asp	rs1321624797	missense variant	-	NC_000002.12:g.42048342G>A	TOPMed
PKDCC	Q504Y2	p.Arg50Cys	rs1270257999	missense variant	-	NC_000002.12:g.42048347C>T	TOPMed
PKDCC	Q504Y2	p.Gly52Val	rs1229022833	missense variant	-	NC_000002.12:g.42048354G>T	TOPMed
PKDCC	Q504Y2	p.Gly54Arg	rs1277928800	missense variant	-	NC_000002.12:g.42048359G>A	TOPMed
PKDCC	Q504Y2	p.Arg58Gln	rs1331322341	missense variant	-	NC_000002.12:g.42048372G>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg61Gln	rs1440911130	missense variant	-	NC_000002.12:g.42048381G>A	gnomAD
PKDCC	Q504Y2	p.Ala62Glu	rs1277200696	missense variant	-	NC_000002.12:g.42048384C>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Tyr64Cys	rs1264921818	missense variant	-	NC_000002.12:g.42048390A>G	gnomAD
PKDCC	Q504Y2	p.Val67Met	rs1048062777	missense variant	-	NC_000002.12:g.42048398G>A	TOPMed
PKDCC	Q504Y2	p.Arg69Pro	rs939786340	missense variant	-	NC_000002.12:g.42048405G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser71Phe	rs1405122434	missense variant	-	NC_000002.12:g.42048411C>T	TOPMed
PKDCC	Q504Y2	p.Arg72Gly	rs1255649304	missense variant	-	NC_000002.12:g.42048413C>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly74Val	rs896010685	missense variant	-	NC_000002.12:g.42048420G>T	TOPMed
PKDCC	Q504Y2	p.Gly74Asp	rs896010685	missense variant	-	NC_000002.12:g.42048420G>A	TOPMed
PKDCC	Q504Y2	p.Gly76Arg	rs1209597663	missense variant	-	NC_000002.12:g.42048425G>A	TOPMed
PKDCC	Q504Y2	p.Pro77Thr	rs1282177377	missense variant	-	NC_000002.12:g.42048428C>A	TOPMed
PKDCC	Q504Y2	p.Gly78Arg	rs1184795406	missense variant	-	NC_000002.12:g.42048431G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly78Ala	rs1244492040	missense variant	-	NC_000002.12:g.42048432G>C	TOPMed
PKDCC	Q504Y2	p.Arg81Leu	rs1249994947	missense variant	-	NC_000002.12:g.42048441G>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro82Leu	rs1429566353	missense variant	-	NC_000002.12:g.42048444C>T	TOPMed
PKDCC	Q504Y2	p.Pro82Ser	rs1332471083	missense variant	-	NC_000002.12:g.42048443C>T	gnomAD
PKDCC	Q504Y2	p.Glu83Gly	rs1324908044	missense variant	-	NC_000002.12:g.42048447A>G	TOPMed
PKDCC	Q504Y2	p.Arg84Pro	rs1405451431	missense variant	-	NC_000002.12:g.42048450G>C	TOPMed
PKDCC	Q504Y2	p.Arg84Gly	rs1215332186	missense variant	-	NC_000002.12:g.42048449C>G	gnomAD
PKDCC	Q504Y2	p.Arg86Cys	rs1161584567	missense variant	-	NC_000002.12:g.42048455C>T	TOPMed
PKDCC	Q504Y2	p.Asp89Glu	rs1390528717	missense variant	-	NC_000002.12:g.42048466C>A	TOPMed
PKDCC	Q504Y2	p.Asp89His	rs1292367097	missense variant	-	NC_000002.12:g.42048464G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Leu90Pro	rs1185732802	missense variant	-	NC_000002.12:g.42048468T>C	TOPMed
PKDCC	Q504Y2	p.Ala91Thr	rs1487956241	missense variant	-	NC_000002.12:g.42048470G>A	TOPMed
PKDCC	Q504Y2	p.Gly94Val	rs1291214357	missense variant	-	NC_000002.12:g.42048480G>T	TOPMed
PKDCC	Q504Y2	p.Gly94Arg	rs1023670709	missense variant	-	NC_000002.12:g.42048479G>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro95Ser	rs1452347989	missense variant	-	NC_000002.12:g.42048482C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly96Ser	rs1427835337	missense variant	-	NC_000002.12:g.42048485G>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg99Leu	rs571993173	missense variant	-	NC_000002.12:g.42048495G>T	1000Genomes,TOPMed
PKDCC	Q504Y2	p.Pro100Thr	rs1359349147	missense variant	-	NC_000002.12:g.42048497C>A	TOPMed
PKDCC	Q504Y2	p.Pro102Ala	rs534596867	missense variant	-	NC_000002.12:g.42048503C>G	1000Genomes,TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro103Arg	rs1000563945	missense variant	-	NC_000002.12:g.42048507C>G	TOPMed
PKDCC	Q504Y2	p.Trp104Gly	rs1300793345	missense variant	-	NC_000002.12:g.42048509T>G	TOPMed
PKDCC	Q504Y2	p.Ala105Thr	rs1431530290	missense variant	-	NC_000002.12:g.42048512G>A	TOPMed
PKDCC	Q504Y2	p.Arg106Gln	rs1471455992	missense variant	-	NC_000002.12:g.42048516G>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg106Leu	rs1471455992	missense variant	-	NC_000002.12:g.42048516G>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro107Arg	rs1033026523	missense variant	-	NC_000002.12:g.42048519C>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser109Phe	rs1349711661	missense variant	-	NC_000002.12:g.42048525C>T	gnomAD
PKDCC	Q504Y2	p.Ser109Pro	rs187184761	missense variant	-	NC_000002.12:g.42048524T>C	1000Genomes,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly111Ser	rs543645793	missense variant	-	NC_000002.12:g.42048530G>A	1000Genomes
PKDCC	Q504Y2	p.Gly111Val	rs769233885	missense variant	-	NC_000002.12:g.42048531G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala112Gly	rs988919629	missense variant	-	NC_000002.12:g.42048534C>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro113Arg	rs1252411814	missense variant	-	NC_000002.12:g.42048537C>G	TOPMed
PKDCC	Q504Y2	p.Pro116Ser	rs1020789099	missense variant	-	NC_000002.12:g.42048545C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro117Gln	rs1391016176	missense variant	-	NC_000002.12:g.42048549C>A	gnomAD
PKDCC	Q504Y2	p.Pro119Ser	rs1219418616	missense variant	-	NC_000002.12:g.42048554C>T	TOPMed
PKDCC	Q504Y2	p.Gly122Cys	rs1326313940	missense variant	-	NC_000002.12:g.42048563G>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly122Val	rs1355720763	missense variant	-	NC_000002.12:g.42048564G>T	gnomAD
PKDCC	Q504Y2	p.Ser123Tyr	rs1353475476	missense variant	-	NC_000002.12:g.42048567C>A	gnomAD
PKDCC	Q504Y2	p.Gly125Ser	rs1234925125	missense variant	-	NC_000002.12:g.42048572G>A	gnomAD
PKDCC	Q504Y2	p.Pro126Ser	rs1343157207	missense variant	-	NC_000002.12:g.42048575C>T	gnomAD
PKDCC	Q504Y2	p.Pro126Arg	rs1284502828	missense variant	-	NC_000002.12:g.42048576C>G	gnomAD
PKDCC	Q504Y2	p.Gly127Ser	rs1195396156	missense variant	-	NC_000002.12:g.42048578G>A	gnomAD
PKDCC	Q504Y2	p.Gly127Val	rs1271122672	missense variant	-	NC_000002.12:g.42048579G>T	gnomAD
PKDCC	Q504Y2	p.Gly127Asp	rs1271122672	missense variant	-	NC_000002.12:g.42048579G>A	gnomAD
PKDCC	Q504Y2	p.Gly131Cys	rs1474479542	missense variant	-	NC_000002.12:g.42048590G>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala134Thr	rs921140231	missense variant	-	NC_000002.12:g.42048599G>A	TOPMed
PKDCC	Q504Y2	p.Ala134Val	rs1369368747	missense variant	-	NC_000002.12:g.42048600C>T	gnomAD
PKDCC	Q504Y2	p.Leu135Phe	rs1165839343	missense variant	-	NC_000002.12:g.42048602C>T	gnomAD
PKDCC	Q504Y2	p.Asn137Asp	rs1482958954	missense variant	-	NC_000002.12:g.42048608A>G	gnomAD
PKDCC	Q504Y2	p.Asn137Lys	rs1429904287	missense variant	-	NC_000002.12:g.42048610C>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Asn137Ser	rs1421204784	missense variant	-	NC_000002.12:g.42048609A>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Asn137Thr	rs1421204784	missense variant	-	NC_000002.12:g.42048609A>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser139Tyr	rs1373569536	missense variant	-	NC_000002.12:g.42048615C>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly140Cys	rs1416501249	missense variant	-	NC_000002.12:g.42048617G>T	gnomAD
PKDCC	Q504Y2	p.Ala141Val	rs1239560427	missense variant	-	NC_000002.12:g.42048621C>T	TOPMed
PKDCC	Q504Y2	p.Met144Val	rs1325693451	missense variant	-	NC_000002.12:g.42048629A>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Met144Ile	rs1224929255	missense variant	-	NC_000002.12:g.42048631G>T	gnomAD
PKDCC	Q504Y2	p.Met144Leu	rs1325693451	missense variant	-	NC_000002.12:g.42048629A>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly145Asp	rs1477286659	missense variant	-	NC_000002.12:g.42048633G>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr149Ile	rs573873941	missense variant	-	NC_000002.12:g.42048645C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr149Ala	rs1229248203	missense variant	-	NC_000002.12:g.42048644A>G	gnomAD
PKDCC	Q504Y2	p.Thr149Asn	rs573873941	missense variant	-	NC_000002.12:g.42048645C>A	1000Genomes,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Val152Met	rs772572329	missense variant	-	NC_000002.12:g.42048653G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg154Trp	rs1446855240	missense variant	-	NC_000002.12:g.42048659C>T	gnomAD
PKDCC	Q504Y2	p.Arg154Leu	rs1191474017	missense variant	-	NC_000002.12:g.42048660G>T	gnomAD
PKDCC	Q504Y2	p.Val155Ile	rs1449631793	missense variant	-	NC_000002.12:g.42048662G>A	gnomAD
PKDCC	Q504Y2	p.Arg156Leu	rs754048219	missense variant	-	NC_000002.12:g.42048666G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg156Cys	rs764481532	missense variant	-	NC_000002.12:g.42048665C>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg156His	rs754048219	missense variant	-	NC_000002.12:g.42048666G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Leu157Val	rs932593515	missense variant	-	NC_000002.12:g.42048668C>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro158Arg	rs1303172183	missense variant	-	NC_000002.12:g.42048672C>G	TOPMed
PKDCC	Q504Y2	p.Gly159Cys	rs765293699	missense variant	-	NC_000002.12:g.42048674G>T	ExAC
PKDCC	Q504Y2	p.Gly159Asp	rs1319973488	missense variant	-	NC_000002.12:g.42048675G>A	gnomAD
PKDCC	Q504Y2	p.Gly160Cys	rs758488715	missense variant	-	NC_000002.12:g.42048677G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly160Ser	rs758488715	missense variant	-	NC_000002.12:g.42048677G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala162Val	rs961640257	missense variant	-	NC_000002.12:g.42048684C>T	TOPMed
PKDCC	Q504Y2	p.Val163Leu	rs1302790197	missense variant	-	NC_000002.12:g.42048686G>C	gnomAD
PKDCC	Q504Y2	p.Val163Met	rs1302790197	missense variant	-	NC_000002.12:g.42048686G>A	gnomAD
PKDCC	Q504Y2	p.Ala164Val	rs1235473044	missense variant	-	NC_000002.12:g.42048690C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Leu165Phe	rs1425088765	missense variant	-	NC_000002.12:g.42048692C>T	gnomAD
PKDCC	Q504Y2	p.Lys166Arg	rs1350521769	missense variant	-	NC_000002.12:g.42048696A>G	gnomAD
PKDCC	Q504Y2	p.Ala167Val	rs1250250680	missense variant	-	NC_000002.12:g.42048699C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Val168Met	rs1465085245	missense variant	-	NC_000002.12:g.42048701G>A	gnomAD
PKDCC	Q504Y2	p.Phe170Leu	rs1416591714	missense variant	-	NC_000002.12:g.42048707T>C	TOPMed
PKDCC	Q504Y2	p.Ser171Arg	rs781015864	missense variant	-	NC_000002.12:g.42048712C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Gly172Cys	rs1434468545	missense variant	-	NC_000002.12:g.42048713G>T	gnomAD
PKDCC	Q504Y2	p.Asp174Gly	rs1363169414	missense variant	-	NC_000002.12:g.42048720A>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Leu175Val	rs1161136954	missense variant	-	NC_000002.12:g.42048722C>G	gnomAD
PKDCC	Q504Y2	p.Gly176Arg	rs895978140	missense variant	-	NC_000002.12:g.42048725G>C	TOPMed
PKDCC	Q504Y2	p.Val179Leu	rs1325525407	missense variant	-	NC_000002.12:g.42048734G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg180Gly	rs1388609605	missense variant	-	NC_000002.12:g.42048737C>G	gnomAD
PKDCC	Q504Y2	p.Arg180Leu	rs1301992108	missense variant	-	NC_000002.12:g.42048738G>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg180Ser	rs1388609605	missense variant	-	NC_000002.12:g.42048737C>A	gnomAD
PKDCC	Q504Y2	p.Glu181Ter	rs747485675	stop gained	-	NC_000002.12:g.42048740G>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Glu181Val	rs768951954	missense variant	-	NC_000002.12:g.42048741A>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Phe182Leu	rs932750180	missense variant	-	NC_000002.12:g.42048745C>A	gnomAD
PKDCC	Q504Y2	p.Gly183Val	rs777043210	missense variant	-	NC_000002.12:g.42048747G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly183Glu	rs777043210	missense variant	-	NC_000002.12:g.42048747G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Val184Leu	rs1213457456	missense variant	-	NC_000002.12:g.42048749G>T	gnomAD
PKDCC	Q504Y2	p.Arg185Gly	rs531061920	missense variant	-	NC_000002.12:g.42048752C>G	1000Genomes,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg185Trp	rs531061920	missense variant	-	NC_000002.12:g.42048752C>T	1000Genomes,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly187Asp	rs765504841	missense variant	-	NC_000002.12:g.42048759G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Gly187Ala	rs765504841	missense variant	-	NC_000002.12:g.42048759G>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Gly187Val	rs765504841	missense variant	-	NC_000002.12:g.42048759G>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Tyr189Phe	rs763152634	missense variant	-	NC_000002.12:g.42048765A>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Tyr189Ser	rs763152634	missense variant	-	NC_000002.12:g.42048765A>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg190Gly	rs766531345	missense variant	-	NC_000002.12:g.42048767C>G	ExAC,TOPMed
PKDCC	Q504Y2	p.Arg190Leu	COSM3695511	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42048768G>T	NCI-TCGA Cosmic
PKDCC	Q504Y2	p.Leu191Val	rs751594192	missense variant	-	NC_000002.12:g.42048770C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala192Val	rs200172947	missense variant	-	NC_000002.12:g.42048774C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala192Gly	rs200172947	missense variant	-	NC_000002.12:g.42048774C>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala193Val	rs752539182	missense variant	-	NC_000002.12:g.42048777C>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala193Gly	rs752539182	missense variant	-	NC_000002.12:g.42048777C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala193Thr	rs767281354	missense variant	-	NC_000002.12:g.42048776G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.His194Pro	rs755807038	missense variant	-	NC_000002.12:g.42048780A>C	ExAC
PKDCC	Q504Y2	p.Leu196Val	rs777424379	missense variant	-	NC_000002.12:g.42048785C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Leu197Phe	rs1294222456	missense variant	-	NC_000002.12:g.42048788C>T	gnomAD
PKDCC	Q504Y2	p.Lys198Glu	rs748900018	missense variant	-	NC_000002.12:g.42048791A>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Lys198Arg	rs1408046530	missense variant	-	NC_000002.12:g.42048792A>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Lys198Asn	rs1190933277	missense variant	-	NC_000002.12:g.42048793G>C	TOPMed
PKDCC	Q504Y2	p.Glu199Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42048796G>T	NCI-TCGA
PKDCC	Q504Y2	p.Leu202Val	rs778374457	missense variant	-	NC_000002.12:g.42048803C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg205Gln	rs769204618	missense variant	-	NC_000002.12:g.42048813G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg205Gly	rs1221783276	missense variant	-	NC_000002.12:g.42048812C>G	gnomAD
PKDCC	Q504Y2	p.Arg207Trp	rs147555846	missense variant	-	NC_000002.12:g.42048818C>T	ESP,gnomAD
PKDCC	Q504Y2	p.His208Arg	rs770010104	missense variant	-	NC_000002.12:g.42048822A>G	ExAC
PKDCC	Q504Y2	p.His208Tyr	rs1485267704	missense variant	-	NC_000002.12:g.42048821C>T	gnomAD
PKDCC	Q504Y2	p.Pro209Leu	rs1185572608	missense variant	-	NC_000002.12:g.42048825C>T	gnomAD
PKDCC	Q504Y2	p.Asn210Ser	rs1415633821	missense variant	-	NC_000002.12:g.42048828A>G	gnomAD
PKDCC	Q504Y2	p.Val211Leu	rs1165805231	missense variant	-	NC_000002.12:g.42048830G>C	gnomAD
PKDCC	Q504Y2	p.Leu212Arg	rs773604639	missense variant	-	NC_000002.12:g.42048834T>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Gln213His	rs1427972419	missense variant	-	NC_000002.12:g.42048838G>T	gnomAD
PKDCC	Q504Y2	p.Tyr215Cys	rs763936517	missense variant	-	NC_000002.12:g.42053243A>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Tyr215His	rs960380621	missense variant	-	NC_000002.12:g.42053242T>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Tyr215Ser	rs763936517	missense variant	-	NC_000002.12:g.42053243A>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Gly216Asp	rs1190801542	missense variant	-	NC_000002.12:g.42053246G>A	gnomAD
PKDCC	Q504Y2	p.Tyr217Ter	RCV000624549	nonsense	Inborn genetic diseases	NC_000002.12:g.42053250C>A	ClinVar
PKDCC	Q504Y2	p.Tyr217Ter	rs761532715	stop gained	-	NC_000002.12:g.42053250C>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Cys218Tyr	rs764887140	missense variant	-	NC_000002.12:g.42053252G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gln220Lys	rs749998497	missense variant	-	NC_000002.12:g.42053257C>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Ser222Gly	rs757961879	missense variant	-	NC_000002.12:g.42053263A>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser222Asn	rs140342791	missense variant	-	NC_000002.12:g.42053264G>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser222Thr	rs140342791	missense variant	-	NC_000002.12:g.42053264G>C	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Glu223Lys	rs753303221	missense variant	-	NC_000002.12:g.42053266G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Asp227Asn	rs180825578	missense variant	-	NC_000002.12:g.42053278G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr228Ile	rs749682229	missense variant	-	NC_000002.12:g.42053282C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr230Asn	rs1433696280	missense variant	-	NC_000002.12:g.42053288C>A	gnomAD
PKDCC	Q504Y2	p.Thr231Ala	rs771372919	missense variant	-	NC_000002.12:g.42053290A>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Ile232Val	rs1223093331	missense variant	-	NC_000002.12:g.42053293A>G	gnomAD
PKDCC	Q504Y2	p.Thr233Met	rs746047258	missense variant	-	NC_000002.12:g.42053297C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr233Ala	rs779227016	missense variant	-	NC_000002.12:g.42053296A>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Glu234Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42053299G>A	NCI-TCGA
PKDCC	Q504Y2	p.Glu234Asp	rs1209116753	missense variant	-	NC_000002.12:g.42053301G>T	gnomAD
PKDCC	Q504Y2	p.Leu235Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42053302C>A	NCI-TCGA
PKDCC	Q504Y2	p.Gly236Asp	rs1451191702	missense variant	-	NC_000002.12:g.42053306G>A	gnomAD
PKDCC	Q504Y2	p.Ala237Asp	rs760674135	missense variant	-	NC_000002.12:g.42053309C>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala237Thr	rs34853050	missense variant	-	NC_000002.12:g.42053308G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro238Ser	rs768587129	missense variant	-	NC_000002.12:g.42053311C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Val239Leu	rs776496646	missense variant	-	NC_000002.12:g.42053314G>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ile242Met	rs201582962	missense variant	-	NC_000002.12:g.42053325C>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ile242Thr	rs1393285527	missense variant	-	NC_000002.12:g.42053324T>C	gnomAD
PKDCC	Q504Y2	p.Gln243Glu	rs764982138	missense variant	-	NC_000002.12:g.42053326C>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gln246His	rs143773696	missense variant	-	NC_000002.12:g.42053337A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr247Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42053339C>A	NCI-TCGA
PKDCC	Q504Y2	p.Glu250Lys	rs765977836	missense variant	-	NC_000002.12:g.42053347G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Glu250ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.42053345G>-	NCI-TCGA
PKDCC	Q504Y2	p.Glu250Ala	rs201891287	missense variant	-	NC_000002.12:g.42053348A>C	1000Genomes,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg252Ter	rs754477865	stop gained	-	NC_000002.12:g.42053353C>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg252Gly	rs754477865	missense variant	-	NC_000002.12:g.42053353C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg252Gln	rs1292375492	missense variant	-	NC_000002.12:g.42053354G>A	gnomAD
PKDCC	Q504Y2	p.Phe253Ile	rs1157657577	missense variant	-	NC_000002.12:g.42053356T>A	TOPMed
PKDCC	Q504Y2	p.Phe253Leu	rs1157657577	missense variant	-	NC_000002.12:g.42053356T>C	TOPMed
PKDCC	Q504Y2	p.Arg254Ter	rs754356956	stop gained	-	NC_000002.12:g.42053359C>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg254Pro	rs747965088	missense variant	-	NC_000002.12:g.42053360G>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg254Gly	rs754356956	missense variant	-	NC_000002.12:g.42053359C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg254Leu	rs747965088	missense variant	-	NC_000002.12:g.42053360G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg254Gln	rs747965088	missense variant	-	NC_000002.12:g.42053360G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ile255Phe	rs758735164	missense variant	-	NC_000002.12:g.42054036A>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Ser258Ile	rs1228763352	missense variant	-	NC_000002.12:g.42054046G>T	TOPMed
PKDCC	Q504Y2	p.Ser258Arg	rs780166000	missense variant	-	NC_000002.12:g.42054045A>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Gly260Asp	rs747195223	missense variant	-	NC_000002.12:g.42054052G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly260Val	rs747195223	missense variant	-	NC_000002.12:g.42054052G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg261His	rs144832959	missense variant	-	NC_000002.12:g.42054055G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg261Gly	rs138808294	missense variant	-	NC_000002.12:g.42054054C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg261Cys	rs138808294	missense variant	-	NC_000002.12:g.42054054C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Leu262Arg	rs373676533	missense variant	-	NC_000002.12:g.42054058T>G	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Leu263Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42054060C>G	NCI-TCGA
PKDCC	Q504Y2	p.Leu263His	rs1465643382	missense variant	-	NC_000002.12:g.42054061T>A	TOPMed
PKDCC	Q504Y2	p.His264Arg	rs1289303964	missense variant	-	NC_000002.12:g.42054064A>G	gnomAD
PKDCC	Q504Y2	p.His265Asn	COSM721861	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42054066C>A	NCI-TCGA Cosmic
PKDCC	Q504Y2	p.Leu266Gln	rs749057996	missense variant	-	NC_000002.12:g.42054070T>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala267Thr	rs770718350	missense variant	-	NC_000002.12:g.42054072G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.His268Tyr	rs1162072977	missense variant	-	NC_000002.12:g.42054075C>T	TOPMed
PKDCC	Q504Y2	p.Pro270Leu	rs1411726444	missense variant	-	NC_000002.12:g.42054082C>T	TOPMed
PKDCC	Q504Y2	p.Pro270Thr	rs144539581	missense variant	-	NC_000002.12:g.42054081C>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Leu271Val	rs1202547957	missense variant	-	NC_000002.12:g.42054084C>G	gnomAD
PKDCC	Q504Y2	p.Leu271Gln	rs775137318	missense variant	-	NC_000002.12:g.42054085T>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Gly272Asp	rs765677586	missense variant	-	NC_000002.12:g.42054088G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Ser273Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42054091C>T	NCI-TCGA
PKDCC	Q504Y2	p.Val274Ile	rs374316779	missense variant	-	NC_000002.12:g.42054093G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Val274Leu	rs374316779	missense variant	-	NC_000002.12:g.42054093G>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Val274Asp	rs767225899	missense variant	-	NC_000002.12:g.42054094T>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Leu276Val	rs367778595	missense variant	-	NC_000002.12:g.42054099C>G	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Phe279Leu	rs755912430	missense variant	-	NC_000002.12:g.42054110C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg280Gly	rs779893968	missense variant	-	NC_000002.12:g.42054111C>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg280Cys	rs779893968	missense variant	-	NC_000002.12:g.42054111C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg280His	rs1482020645	missense variant	-	NC_000002.12:g.42054112G>A	TOPMed
PKDCC	Q504Y2	p.Arg282Pro	rs755188085	missense variant	-	NC_000002.12:g.42054118G>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg282Gln	rs755188085	missense variant	-	NC_000002.12:g.42054118G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg282Trp	rs372244846	missense variant	-	NC_000002.12:g.42054117C>T	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg282Leu	rs755188085	missense variant	-	NC_000002.12:g.42054118G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Phe284Val	rs1276096464	missense variant	-	NC_000002.12:g.42054123T>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Val285Leu	rs377686010	missense variant	-	NC_000002.12:g.42054126G>T	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Val285Met	rs377686010	missense variant	-	NC_000002.12:g.42054126G>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Asp288His	rs1435923217	missense variant	-	NC_000002.12:g.42054135G>C	gnomAD
PKDCC	Q504Y2	p.Asp288Gly	rs565845223	missense variant	-	NC_000002.12:g.42054136A>G	1000Genomes
PKDCC	Q504Y2	p.Gly289Glu	rs747310773	missense variant	-	NC_000002.12:g.42054139G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Gly289Arg	rs778155199	missense variant	-	NC_000002.12:g.42054138G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Lys292Gln	rs777191700	missense variant	-	NC_000002.12:g.42054147A>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Lys292Glu	rs777191700	missense variant	-	NC_000002.12:g.42054147A>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr294Met	rs1207203094	missense variant	-	NC_000002.12:g.42054154C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Leu296Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42054159C>A	NCI-TCGA
PKDCC	Q504Y2	p.Asp297Val	rs770370744	missense variant	-	NC_000002.12:g.42054163A>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Asp298Asn	rs773690824	missense variant	-	NC_000002.12:g.42054165G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala299Thr	rs368270876	missense variant	-	NC_000002.12:g.42054168G>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala299Val	rs1471482869	missense variant	-	NC_000002.12:g.42054169C>T	gnomAD
PKDCC	Q504Y2	p.Arg300Ser	rs766142478	missense variant	-	NC_000002.12:g.42054171C>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg300His	rs34372645	missense variant	-	NC_000002.12:g.42054172G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg300Cys	rs766142478	missense variant	-	NC_000002.12:g.42054171C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg300Leu	rs34372645	missense variant	-	NC_000002.12:g.42054172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Val301Met	rs1186416663	missense variant	-	NC_000002.12:g.42054174G>A	TOPMed
PKDCC	Q504Y2	p.Glu302Gly	rs1391113074	missense variant	-	NC_000002.12:g.42054178A>G	gnomAD
PKDCC	Q504Y2	p.Thr304Met	rs150069795	missense variant	-	NC_000002.12:g.42054184C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr304Lys	rs150069795	missense variant	-	NC_000002.12:g.42054184C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro305Gln	rs369211885	missense variant	-	NC_000002.12:g.42054187C>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro305Leu	rs369211885	missense variant	-	NC_000002.12:g.42054187C>T	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro305Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42054186C>T	NCI-TCGA
PKDCC	Q504Y2	p.Cys306Phe	rs1226952160	missense variant	-	NC_000002.12:g.42054190G>T	gnomAD
PKDCC	Q504Y2	p.Cys306Tyr	rs1226952160	missense variant	-	NC_000002.12:g.42054190G>A	gnomAD
PKDCC	Q504Y2	p.Ala307Ser	rs781660036	missense variant	-	NC_000002.12:g.42054192G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala307Thr	rs781660036	missense variant	-	NC_000002.12:g.42054192G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly308Ala	rs1263280447	missense variant	-	NC_000002.12:g.42054196G>C	gnomAD
PKDCC	Q504Y2	p.Gly308Arg	rs746271281	missense variant	-	NC_000002.12:g.42054195G>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Gly308Ser	rs746271281	missense variant	-	NC_000002.12:g.42054195G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Ser309Gly	rs61754921	missense variant	-	NC_000002.12:g.42054198A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr310Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42054202C>T	NCI-TCGA
PKDCC	Q504Y2	p.Thr310Ala	rs1209893976	missense variant	-	NC_000002.12:g.42054201A>G	gnomAD
PKDCC	Q504Y2	p.Asp311Tyr	rs374454176	missense variant	-	NC_000002.12:g.42054204G>T	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Asp311Val	rs769511686	missense variant	-	NC_000002.12:g.42054205A>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Asp311Asn	rs374454176	missense variant	-	NC_000002.12:g.42054204G>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Cys312Ser	rs1423002282	missense variant	-	NC_000002.12:g.42054208G>C	gnomAD
PKDCC	Q504Y2	p.Cys312Arg	rs772760412	missense variant	-	NC_000002.12:g.42054207T>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Ile313Thr	rs1366923903	missense variant	-	NC_000002.12:g.42054211T>C	gnomAD
PKDCC	Q504Y2	p.Ile313Met	rs376135288	missense variant	-	NC_000002.12:g.42054212A>G	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Glu315Lys	rs543609482	missense variant	-	NC_000002.12:g.42054216G>A	1000Genomes,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Glu315Gln	rs543609482	missense variant	-	NC_000002.12:g.42054216G>C	1000Genomes,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro317Ala	rs759389470	missense variant	-	NC_000002.12:g.42054222C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Pro317Leu	rs765017603	missense variant	-	NC_000002.12:g.42054223C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala318Val	rs1395801462	missense variant	-	NC_000002.12:g.42054226C>T	gnomAD
PKDCC	Q504Y2	p.Arg319Trp	rs377211356	missense variant	-	NC_000002.12:g.42054228A>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg319Ser	rs1244884606	missense variant	-	NC_000002.12:g.42054230G>T	gnomAD
PKDCC	Q504Y2	p.Arg319Gly	rs377211356	missense variant	-	NC_000002.12:g.42054228A>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Asn320Asp	rs1044604302	missense variant	-	NC_000002.12:g.42054231A>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Phe321Leu	rs1339999687	missense variant	-	NC_000002.12:g.42054236C>G	gnomAD
PKDCC	Q504Y2	p.Thr322Asn	rs1240275871	missense variant	-	NC_000002.12:g.42054238C>A	TOPMed
PKDCC	Q504Y2	p.Leu323Val	rs56060398	missense variant	-	NC_000002.12:g.42054240C>G	gnomAD
PKDCC	Q504Y2	p.Pro324Ala	rs1482838398	missense variant	-	NC_000002.12:g.42054243C>G	gnomAD
PKDCC	Q504Y2	p.Cys325Ter	rs867555443	stop gained	-	NC_000002.12:g.42054248C>A	gnomAD
PKDCC	Q504Y2	p.Gly329Asp	rs1425744088	missense variant	-	NC_000002.12:g.42054259G>A	gnomAD
PKDCC	Q504Y2	p.Gly329Arg	rs888710687	missense variant	-	NC_000002.12:g.42054258G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly329Ser	rs888710687	missense variant	-	NC_000002.12:g.42054258G>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Cys331Arg	rs757512363	missense variant	-	NC_000002.12:g.42054264T>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Glu332Lys	rs201349790	missense variant	-	NC_000002.12:g.42054267G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Met334Val	rs140379807	missense variant	-	NC_000002.12:g.42054273A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Met334Thr	rs1355607890	missense variant	-	NC_000002.12:g.42054274T>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Met334Lys	rs1355607890	missense variant	-	NC_000002.12:g.42054274T>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Glu336Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42054281G>C	NCI-TCGA
PKDCC	Q504Y2	p.Glu336Lys	rs780344962	missense variant	-	NC_000002.12:g.42054279G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Lys337Arg	rs1452848671	missense variant	-	NC_000002.12:g.42054283A>G	gnomAD
PKDCC	Q504Y2	p.Arg338Gln	rs769194112	missense variant	-	NC_000002.12:g.42054286G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg338Trp	rs749783255	missense variant	-	NC_000002.12:g.42054285C>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Leu340Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42054291C>A	NCI-TCGA
PKDCC	Q504Y2	p.Tyr341His	rs1229958949	missense variant	-	NC_000002.12:g.42054294T>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Asn342Asp	rs772670606	missense variant	-	NC_000002.12:g.42054297A>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala343Ser	rs1207795952	missense variant	-	NC_000002.12:g.42054300G>T	gnomAD
PKDCC	Q504Y2	p.Tyr344Cys	rs1483443279	missense variant	-	NC_000002.12:g.42054304A>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg345Lys	rs759177133	missense variant	-	NC_000002.12:g.42054307G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Phe346Leu	rs1161791222	missense variant	-	NC_000002.12:g.42054942T>C	TOPMed
PKDCC	Q504Y2	p.Phe348Leu	rs138740911	missense variant	-	NC_000002.12:g.42054948T>C	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr349Ala	rs769370620	missense variant	-	NC_000002.12:g.42054951A>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Leu351Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42054957C>T	NCI-TCGA
PKDCC	Q504Y2	p.Leu352Val	rs1348837188	missense variant	-	NC_000002.12:g.42054960C>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala356Val	rs764062024	missense variant	-	NC_000002.12:g.42054973C>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Pro357Leu	rs774430424	missense variant	-	NC_000002.12:g.42054976C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg361His	rs750512358	missense variant	-	NC_000002.12:g.42054988G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Arg361Cys	rs767616137	missense variant	-	NC_000002.12:g.42054987C>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Pro362Ala	rs1182499708	missense variant	-	NC_000002.12:g.42054990C>G	TOPMed
PKDCC	Q504Y2	p.Leu364Val	rs559149258	missense variant	-	NC_000002.12:g.42054996C>G	1000Genomes,ExAC,gnomAD
PKDCC	Q504Y2	p.Asp365Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42055000A>G	NCI-TCGA
PKDCC	Q504Y2	p.Ser366Cys	rs201954685	missense variant	-	NC_000002.12:g.42055002A>T	1000Genomes
PKDCC	Q504Y2	p.Val368Ile	rs766534302	missense variant	-	NC_000002.12:g.42055008G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Asn369Ser	rs147347408	missense variant	-	NC_000002.12:g.42055012A>G	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala370Thr	rs937072379	missense variant	-	NC_000002.12:g.42055014G>A	TOPMed
PKDCC	Q504Y2	p.Ala370Val	rs1490644983	missense variant	-	NC_000002.12:g.42055015C>T	gnomAD
PKDCC	Q504Y2	p.Gly372Ter	COSM4094255	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.42055020G>T	NCI-TCGA Cosmic
PKDCC	Q504Y2	p.Gly372Arg	rs1237198924	missense variant	-	NC_000002.12:g.42055020G>A	TOPMed
PKDCC	Q504Y2	p.Glu373Gln	rs1227751326	missense variant	-	NC_000002.12:g.42055288G>C	gnomAD
PKDCC	Q504Y2	p.Leu374Phe	rs1341998377	missense variant	-	NC_000002.12:g.42055291C>T	gnomAD
PKDCC	Q504Y2	p.Ala375Thr	rs755580371	missense variant	-	NC_000002.12:g.42055294G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ala375Asp	rs748929908	missense variant	-	NC_000002.12:g.42055295C>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala375Ser	rs755580371	missense variant	-	NC_000002.12:g.42055294G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Trp376Leu	rs369267445	missense variant	-	NC_000002.12:g.42055298G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Trp376Cys	rs747921012	missense variant	-	NC_000002.12:g.42055299G>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Trp376Ter	rs369267445	stop gained	-	NC_000002.12:g.42055298G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Trp376Ser	rs369267445	missense variant	-	NC_000002.12:g.42055298G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly377Arg	rs139834357	missense variant	-	NC_000002.12:g.42055300G>C	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly377Trp	rs139834357	missense variant	-	NC_000002.12:g.42055300G>T	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly377Arg	rs139834357	missense variant	-	NC_000002.12:g.42055300G>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly377Ala	rs770985308	missense variant	-	NC_000002.12:g.42055301G>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Val378TrpPheSerTerUnkUnkUnk	COSM1291505	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.42055298G>-	NCI-TCGA Cosmic
PKDCC	Q504Y2	p.Val378Met	rs1374754168	missense variant	-	NC_000002.12:g.42055303G>A	gnomAD
PKDCC	Q504Y2	p.Val378Ala	rs1475673239	missense variant	-	NC_000002.12:g.42055304T>C	gnomAD
PKDCC	Q504Y2	p.Glu380Gln	COSM1306797	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42055309G>C	NCI-TCGA Cosmic
PKDCC	Q504Y2	p.Glu380Lys	rs776740396	missense variant	-	NC_000002.12:g.42055309G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr381Ser	rs765473313	missense variant	-	NC_000002.12:g.42055312A>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Leu382Val	rs775782223	missense variant	-	NC_000002.12:g.42055315C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Glu386Lys	rs903395363	missense variant	-	NC_000002.12:g.42055327G>A	TOPMed
PKDCC	Q504Y2	p.Val388Leu	rs764592115	missense variant	-	NC_000002.12:g.42055333G>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Val388Met	rs764592115	missense variant	-	NC_000002.12:g.42055333G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.His390Arg	rs752001053	missense variant	-	NC_000002.12:g.42055340A>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg393Gln	rs374556546	missense variant	-	NC_000002.12:g.42055349G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg393Trp	rs889378901	missense variant	-	NC_000002.12:g.42055348C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly395Arg	rs753432784	missense variant	-	NC_000002.12:g.42055354G>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly395Arg	rs753432784	missense variant	-	NC_000002.12:g.42055354G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gln396Ter	rs1447048619	stop gained	-	NC_000002.12:g.42055357C>T	gnomAD
PKDCC	Q504Y2	p.Gln396Arg	rs747912047	missense variant	-	NC_000002.12:g.42055358A>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr402Lys	rs199534537	missense variant	-	NC_000002.12:g.42055376C>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr402Met	rs199534537	missense variant	-	NC_000002.12:g.42055376C>T	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr402Ala	rs1375849298	missense variant	-	NC_000002.12:g.42055375A>G	gnomAD
PKDCC	Q504Y2	p.Ala403Thr	rs770895165	missense variant	-	NC_000002.12:g.42055378G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser405Arg	rs776650479	missense variant	-	NC_000002.12:g.42055384A>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser405Gly	rs776650479	missense variant	-	NC_000002.12:g.42055384A>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser406Asn	rs1410366761	missense variant	-	NC_000002.12:g.42055388G>A	TOPMed
PKDCC	Q504Y2	p.Thr407Ser	rs1005828441	missense variant	-	NC_000002.12:g.42055391C>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr407Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42055390A>T	NCI-TCGA
PKDCC	Q504Y2	p.Thr407Ile	rs1005828441	missense variant	-	NC_000002.12:g.42055391C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Glu408Lys	rs200003897	missense variant	-	NC_000002.12:g.42055393G>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Glu408Gly	rs762284448	missense variant	-	NC_000002.12:g.42057221A>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Glu408Gln	rs200003897	missense variant	-	NC_000002.12:g.42055393G>C	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ile412Val	rs772640989	missense variant	-	NC_000002.12:g.42057232A>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Asp414Glu	rs1178664232	missense variant	-	NC_000002.12:g.42057240C>A	TOPMed,gnomAD
PKDCC	Q504Y2	p.Asp414Asn	rs773853665	missense variant	-	NC_000002.12:g.42057238G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Asp414His	rs773853665	missense variant	-	NC_000002.12:g.42057238G>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser415Gly	rs761323413	missense variant	-	NC_000002.12:g.42057241A>G	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Ser415Ile	COSM721859	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42057242G>T	NCI-TCGA Cosmic
PKDCC	Q504Y2	p.Ile417Asn	rs764631344	missense variant	-	NC_000002.12:g.42057248T>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Pro418Thr	rs868370814	missense variant	-	NC_000002.12:g.42057250C>A	TOPMed
PKDCC	Q504Y2	p.Pro418Ser	rs868370814	missense variant	-	NC_000002.12:g.42057250C>T	TOPMed
PKDCC	Q504Y2	p.Gln419Ter	rs1383512358	stop gained	-	NC_000002.12:g.42057253C>T	gnomAD
PKDCC	Q504Y2	p.Glu420Lys	rs752291440	missense variant	-	NC_000002.12:g.42057256G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Asp421Asn	rs1164843780	missense variant	-	NC_000002.12:g.42057259G>A	gnomAD
PKDCC	Q504Y2	p.Tyr422Cys	rs1331966606	missense variant	-	NC_000002.12:g.42057263A>G	TOPMed
PKDCC	Q504Y2	p.Arg423Cys	rs1370426689	missense variant	-	NC_000002.12:g.42057265C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg423Gly	rs1370426689	missense variant	-	NC_000002.12:g.42057265C>G	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg423His	rs375161244	missense variant	-	NC_000002.12:g.42057266G>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Cys424Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42057268T>A	NCI-TCGA
PKDCC	Q504Y2	p.Trp425Gly	rs192502736	missense variant	-	NC_000002.12:g.42057271T>G	1000Genomes,ExAC,gnomAD
PKDCC	Q504Y2	p.Ser427Tyr	rs144324838	missense variant	-	NC_000002.12:g.42057278C>A	ESP,ExAC,gnomAD
PKDCC	Q504Y2	p.His429Gln	rs1416373374	missense variant	-	NC_000002.12:g.42057285C>A	TOPMed
PKDCC	Q504Y2	p.Gly431Arg	rs756089656	missense variant	-	NC_000002.12:g.42057289G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Val437Leu	rs779960943	missense variant	-	NC_000002.12:g.42057307G>C	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Asn439Ser	rs768706322	missense variant	-	NC_000002.12:g.42057314A>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala443Gly	rs779204285	missense variant	-	NC_000002.12:g.42057326C>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Asp445Val	rs571134014	missense variant	-	NC_000002.12:g.42057332A>T	1000Genomes,ExAC,gnomAD
PKDCC	Q504Y2	p.Asp445Ala	rs571134014	missense variant	-	NC_000002.12:g.42057332A>C	1000Genomes,ExAC,gnomAD
PKDCC	Q504Y2	p.Glu448Gly	rs761233758	missense variant	-	NC_000002.12:g.42057341A>G	ExAC,gnomAD
PKDCC	Q504Y2	p.Ser449Asn	rs1184211949	missense variant	-	NC_000002.12:g.42057344G>A	gnomAD
PKDCC	Q504Y2	p.Ser449Arg	rs771499303	missense variant	-	NC_000002.12:g.42057345C>A	ExAC
PKDCC	Q504Y2	p.Ala451Val	rs540044470	missense variant	-	NC_000002.12:g.42057350C>T	1000Genomes,ExAC,gnomAD
PKDCC	Q504Y2	p.Gln452Arg	rs1427203094	missense variant	-	NC_000002.12:g.42057353A>G	gnomAD
PKDCC	Q504Y2	p.Arg454Gln	rs751205624	missense variant	-	NC_000002.12:g.42057359G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg454Trp	rs763585890	missense variant	-	NC_000002.12:g.42057358C>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Val458Phe	rs1407773140	missense variant	-	NC_000002.12:g.42057370G>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Asn460Ser	rs1236705503	missense variant	-	NC_000002.12:g.42057377A>G	TOPMed
PKDCC	Q504Y2	p.Gln461His	rs1452735733	missense variant	-	NC_000002.12:g.42057381G>C	TOPMed,gnomAD
PKDCC	Q504Y2	p.Thr462Ser	rs1048777399	missense variant	-	NC_000002.12:g.42057382A>T	TOPMed
PKDCC	Q504Y2	p.Thr462Ile	rs767275653	missense variant	-	NC_000002.12:g.42057383C>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Trp464Arg	rs1004668977	missense variant	-	NC_000002.12:g.42057388T>C	TOPMed
PKDCC	Q504Y2	p.Trp464Ter	rs750255771	stop gained	-	NC_000002.12:g.42057389G>A	ExAC,TOPMed
PKDCC	Q504Y2	p.Gly466Val	rs145926479	missense variant	-	NC_000002.12:g.42057603G>T	ESP,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly466Ser	rs1216297965	missense variant	-	NC_000002.12:g.42057394G>A	gnomAD
PKDCC	Q504Y2	p.Gly466Asp	rs145926479	missense variant	-	NC_000002.12:g.42057603G>A	ESP,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg467Leu	rs372281747	missense variant	-	NC_000002.12:g.42057606G>T	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg467Trp	rs1480965660	missense variant	-	NC_000002.12:g.42057605C>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Arg467Gln	rs372281747	missense variant	-	NC_000002.12:g.42057606G>A	ESP,ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Leu469Pro	rs1405269424	missense variant	-	NC_000002.12:g.42057612T>C	gnomAD
PKDCC	Q504Y2	p.Val470Phe	rs766157623	missense variant	-	NC_000002.12:g.42057614G>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Phe472Ser	rs754920372	missense variant	-	NC_000002.12:g.42057621T>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Phe472Leu	rs1345991539	missense variant	-	NC_000002.12:g.42057622C>A	gnomAD
PKDCC	Q504Y2	p.Gly475Arg	rs765378447	missense variant	-	NC_000002.12:g.42057629G>A	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Trp476Arg	rs778153180	missense variant	-	NC_000002.12:g.42057632T>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Trp476Arg	rs778153180	missense variant	-	NC_000002.12:g.42057632T>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Ser477Ile	rs1284989252	missense variant	-	NC_000002.12:g.42057636G>T	TOPMed,gnomAD
PKDCC	Q504Y2	p.Val480Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.42057644G>T	NCI-TCGA
PKDCC	Q504Y2	p.Val480Ala	rs1220955299	missense variant	-	NC_000002.12:g.42057645T>C	gnomAD
PKDCC	Q504Y2	p.Pro481Leu	rs974615556	missense variant	-	NC_000002.12:g.42057648C>T	TOPMed
PKDCC	Q504Y2	p.Asp482Tyr	rs781464156	missense variant	-	NC_000002.12:g.42057650G>T	ExAC,gnomAD
PKDCC	Q504Y2	p.Pro483Thr	rs746359140	missense variant	-	NC_000002.12:g.42057653C>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Asn484Lys	rs921819463	missense variant	-	NC_000002.12:g.42057658C>G	TOPMed
PKDCC	Q504Y2	p.Asn484Ile	rs770241534	missense variant	-	NC_000002.12:g.42057657A>T	ExAC
PKDCC	Q504Y2	p.Lys485Arg	COSM4094257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.42057660A>G	NCI-TCGA Cosmic
PKDCC	Q504Y2	p.Lys485Asn	rs1295398677	missense variant	-	NC_000002.12:g.42057661G>C	TOPMed
PKDCC	Q504Y2	p.Lys485Glu	rs371821658	missense variant	-	NC_000002.12:g.42057659A>G	ESP,ExAC,gnomAD
PKDCC	Q504Y2	p.Thr486Ile	rs1230850927	missense variant	-	NC_000002.12:g.42057663C>T	gnomAD
PKDCC	Q504Y2	p.Thr487Ala	rs1177401027	missense variant	-	NC_000002.12:g.42057665A>G	gnomAD
PKDCC	Q504Y2	p.Val489Met	rs747673825	missense variant	-	NC_000002.12:g.42057671G>A	ExAC,gnomAD
PKDCC	Q504Y2	p.Val489Leu	rs747673825	missense variant	-	NC_000002.12:g.42057671G>C	ExAC,gnomAD
PKDCC	Q504Y2	p.Ala491Ser	rs1437775776	missense variant	-	NC_000002.12:g.42057677G>T	TOPMed
PKDCC	Q504Y2	p.Ser492Phe	rs772850359	missense variant	-	NC_000002.12:g.42057681C>T	ExAC,TOPMed,gnomAD
PKDCC	Q504Y2	p.Gly493Ser	rs1165462919	missense variant	-	NC_000002.12:g.42057683G>A	gnomAD
PKDCC	Q504Y2	p.Gly493Asp	rs1321917013	missense variant	-	NC_000002.12:g.42057684G>A	TOPMed
ARHGAP29	Q52LW3	p.Ile2Met	rs1462657501	missense variant	-	NC_000001.11:g.94231606A>C	TOPMed
ARHGAP29	Q52LW3	p.Ala3Thr	rs766931230	missense variant	-	NC_000001.11:g.94231605C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala3Ser	rs766931230	missense variant	-	NC_000001.11:g.94231605C>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala3Pro	rs766931230	missense variant	-	NC_000001.11:g.94231605C>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.His4Tyr	COSM3866286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94231602G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Lys5Gln	rs141866812	missense variant	-	NC_000001.11:g.94231599T>G	ESP,TOPMed
ARHGAP29	Q52LW3	p.Gln6His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94231594C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Lys8ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94231589T>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Lys10Arg	rs1361821749	missense variant	-	NC_000001.11:g.94231583T>C	TOPMed
ARHGAP29	Q52LW3	p.Arg13Cys	rs369380308	missense variant	-	NC_000001.11:g.94231575G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg13His	rs1172759017	missense variant	-	NC_000001.11:g.94231574C>T	TOPMed
ARHGAP29	Q52LW3	p.Gly18Asp	rs1012276764	missense variant	-	NC_000001.11:g.94231559C>T	TOPMed
ARHGAP29	Q52LW3	p.Gly18Ser	rs1467829956	missense variant	-	NC_000001.11:g.94231560C>T	TOPMed
ARHGAP29	Q52LW3	p.Gln19Glu	COSM1296813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94231557G>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gln19His	rs767680872	missense variant	-	NC_000001.11:g.94231555T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln19Arg	rs1448143654	missense variant	-	NC_000001.11:g.94231556T>C	TOPMed
ARHGAP29	Q52LW3	p.Gln19Leu	rs1448143654	missense variant	-	NC_000001.11:g.94231556T>A	TOPMed
ARHGAP29	Q52LW3	p.Thr22Ala	rs762181862	missense variant	-	NC_000001.11:g.94231548T>C	ExAC,TOPMed
ARHGAP29	Q52LW3	p.Ile24Thr	rs774714155	missense variant	-	NC_000001.11:g.94231541A>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr26Ile	rs1262554383	missense variant	-	NC_000001.11:g.94231535G>A	TOPMed
ARHGAP29	Q52LW3	p.Thr26Ala	rs768935830	missense variant	-	NC_000001.11:g.94231536T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr26Pro	rs768935830	missense variant	-	NC_000001.11:g.94231536T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser27Phe	rs1318576238	missense variant	-	NC_000001.11:g.94231532G>A	TOPMed
ARHGAP29	Q52LW3	p.Leu31Phe	rs759393451	missense variant	-	NC_000001.11:g.94231521G>A	ExAC
ARHGAP29	Q52LW3	p.Ser33Phe	COSM3493561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94231514G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser35Arg	rs375644450	missense variant	-	NC_000001.11:g.94231509T>G	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser35Asn	rs770933013	missense variant	-	NC_000001.11:g.94231508C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn37Tyr	rs746891522	missense variant	-	NC_000001.11:g.94231503T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile39Val	rs777315314	missense variant	-	NC_000001.11:g.94231497T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Phe40Leu	rs771565448	missense variant	-	NC_000001.11:g.94231494A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Pro42Leu	rs747589753	missense variant	-	NC_000001.11:g.94231487G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile45Val	rs140206150	missense variant	-	NC_000001.11:g.94231479T>C	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Lys46Arg	rs754257819	missense variant	-	NC_000001.11:g.94231475T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu48Ser	rs1479236591	missense variant	-	NC_000001.11:g.94231469A>G	TOPMed
ARHGAP29	Q52LW3	p.Leu48Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94231470A>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Val49Leu	rs756691020	missense variant	-	NC_000001.11:g.94231467C>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Val49Met	rs756691020	missense variant	-	NC_000001.11:g.94231467C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp51Glu	rs1436891821	missense variant	-	NC_000001.11:g.94231459A>T	gnomAD
ARHGAP29	Q52LW3	p.Asp51Val	rs1295028775	missense variant	-	NC_000001.11:g.94231460T>A	gnomAD
ARHGAP29	Q52LW3	p.Ile52Thr	rs1045620186	missense variant	-	NC_000001.11:g.94231457A>G	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg53Lys	rs146362265	missense variant	-	NC_000001.11:g.94231454C>T	ESP,gnomAD
ARHGAP29	Q52LW3	p.His57Arg	rs767775218	missense variant	-	NC_000001.11:g.94231442T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.His57Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94231443G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Met58Val	rs761991943	missense variant	-	NC_000001.11:g.94231440T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Tyr61Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.94231429A>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu62Ter	rs764437996	stop gained	-	NC_000001.11:g.94231427A>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Leu62Trp	rs764437996	missense variant	-	NC_000001.11:g.94231427A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu64Lys	rs200189126	missense variant	-	NC_000001.11:g.94231422C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala65Thr	rs377164789	missense variant	-	NC_000001.11:g.94231419C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Phe67Ile	rs760724845	missense variant	-	NC_000001.11:g.94231413A>T	ExAC
ARHGAP29	Q52LW3	p.Cys70Arg	rs765432431	missense variant	-	NC_000001.11:g.94220390A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Cys70Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94220389C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Cys70PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94220388_94220389AC>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Phe71Ser	rs1331548920	missense variant	-	NC_000001.11:g.94220386A>G	TOPMed
ARHGAP29	Q52LW3	p.Glu73Ter	COSM1345020	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94220381C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Val74Leu	rs574016258	missense variant	-	NC_000001.11:g.94220378C>G	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile75Thr	rs1393860320	missense variant	-	NC_000001.11:g.94220374A>G	gnomAD
ARHGAP29	Q52LW3	p.His76Tyr	rs767473796	missense variant	-	NC_000001.11:g.94220372G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile77Thr	rs768035907	missense variant	-	NC_000001.11:g.94220368A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile77Val	rs773896118	missense variant	-	NC_000001.11:g.94220369T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg78Cys	rs1212156200	missense variant	-	NC_000001.11:g.94220366G>A	TOPMed
ARHGAP29	Q52LW3	p.Arg78His	rs367817904	missense variant	-	NC_000001.11:g.94220365C>T	ESP,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu80Lys	rs775014085	missense variant	-	NC_000001.11:g.94220360C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu81Asp	rs769431878	missense variant	-	NC_000001.11:g.94220355T>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu82Met	rs1425649735	missense variant	-	NC_000001.11:g.94220354G>T	gnomAD
ARHGAP29	Q52LW3	p.Arg84Cys	rs374838820	missense variant	-	NC_000001.11:g.94220348G>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg84Gly	rs374838820	missense variant	-	NC_000001.11:g.94220348G>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg84Cys	rs374838820	missense variant	-	NC_000001.11:g.94220348G>A	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg84His	rs183410431	missense variant	-	NC_000001.11:g.94220347C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu86Ser	rs747496900	missense variant	-	NC_000001.11:g.94220341A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Lys87Arg	rs777968941	missense variant	-	NC_000001.11:g.94220338T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile89Val	rs766258754	missense variant	-	NC_000001.11:g.94220333T>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Ile89Val	rs766258754	missense variant	-	NC_000001.11:g.94220333T>C	TOPMed
ARHGAP29	Q52LW3	p.Ile89Met	rs1329602255	missense variant	-	NC_000001.11:g.94220331T>C	gnomAD
ARHGAP29	Q52LW3	p.Met90Ile	rs996519994	missense variant	-	NC_000001.11:g.94220328C>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn91His	rs1357882289	missense variant	-	NC_000001.11:g.94220327T>G	TOPMed
ARHGAP29	Q52LW3	p.Asn91Ser	rs900852257	missense variant	-	NC_000001.11:g.94220326T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys92Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94220323T>G	NCI-TCGA
ARHGAP29	Q52LW3	p.His93Arg	rs1323018743	missense variant	-	NC_000001.11:g.94220320T>C	gnomAD
ARHGAP29	Q52LW3	p.Asn95Lys	rs758405307	missense variant	-	NC_000001.11:g.94220313G>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu96Arg	rs1019238191	missense variant	-	NC_000001.11:g.94220311A>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser98Ala	rs367962340	missense variant	-	NC_000001.11:g.94220306A>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser98Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94220305G>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu101Phe	rs1436362931	missense variant	-	NC_000001.11:g.94220297G>A	gnomAD
ARHGAP29	Q52LW3	p.Ala105Val	rs761792356	missense variant	-	NC_000001.11:g.94220284G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu106Asp	rs201436437	missense variant	-	NC_000001.11:g.94220280T>G	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu106Val	rs1447722797	missense variant	-	NC_000001.11:g.94220281T>A	gnomAD
ARHGAP29	Q52LW3	p.Met107Ile	rs764022731	missense variant	-	NC_000001.11:g.94220277C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr109Ile	rs769366932	missense variant	-	NC_000001.11:g.94220272G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr109Ser	rs775019727	missense variant	-	NC_000001.11:g.94220273T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr109Asn	rs769366932	missense variant	-	NC_000001.11:g.94220272G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr109Ala	rs775019727	missense variant	-	NC_000001.11:g.94220273T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala110Glu	rs1207730905	missense variant	-	NC_000001.11:g.94220269G>T	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys111Glu	rs967954343	missense variant	-	NC_000001.11:g.94220267T>C	TOPMed
ARHGAP29	Q52LW3	p.Val112Ala	COSM4861732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94220263A>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Lys113Glu	rs777185368	missense variant	-	NC_000001.11:g.94220261T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Lys113Gln	rs777185368	missense variant	-	NC_000001.11:g.94220261T>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala114Gly	rs1178470400	missense variant	-	NC_000001.11:g.94209350G>C	gnomAD
ARHGAP29	Q52LW3	p.Ala114Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94220258C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Val115Met	rs1205214692	missense variant	-	NC_000001.11:g.94209348C>T	gnomAD
ARHGAP29	Q52LW3	p.Asn116Ser	rs1347855117	missense variant	-	NC_000001.11:g.94209344T>C	gnomAD
ARHGAP29	Q52LW3	p.Thr118Arg	rs940546746	missense variant	-	NC_000001.11:g.94209338G>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr118Ile	rs940546746	missense variant	-	NC_000001.11:g.94209338G>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu119Asp	rs1245996285	missense variant	-	NC_000001.11:g.94209334T>A	TOPMed
ARHGAP29	Q52LW3	p.Val120Phe	RCV000202673	missense variant	-	NC_000001.11:g.94209333C>A	ClinVar
ARHGAP29	Q52LW3	p.Val120Phe	rs864309588	missense variant	-	NC_000001.11:g.94209333C>A	-
ARHGAP29	Q52LW3	p.Asn121Ser	rs759321408	missense variant	-	NC_000001.11:g.94209329T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asn124Tyr	rs1188001028	missense variant	-	NC_000001.11:g.94209321T>A	TOPMed
ARHGAP29	Q52LW3	p.Asn124Ser	rs1372520353	missense variant	-	NC_000001.11:g.94209320T>C	gnomAD
ARHGAP29	Q52LW3	p.Asp127Asn	rs770643185	missense variant	-	NC_000001.11:g.94209312C>T	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asp127Asn	rs770643185	missense variant	-	NC_000001.11:g.94209312C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp127Glu	rs1477317624	missense variant	-	NC_000001.11:g.94209310A>T	TOPMed
ARHGAP29	Q52LW3	p.Asp127His	rs770643185	missense variant	-	NC_000001.11:g.94209312C>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln130Ter	COSM1688075	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94209303G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gln130His	rs201288581	missense variant	-	NC_000001.11:g.94209301C>A	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln130Glu	rs1170736741	missense variant	-	NC_000001.11:g.94209303G>C	gnomAD
ARHGAP29	Q52LW3	p.Glu131Gln	rs773584921	missense variant	-	NC_000001.11:g.94209300C>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Val132Ala	rs909039853	missense variant	-	NC_000001.11:g.94209296A>G	TOPMed
ARHGAP29	Q52LW3	p.Ile136Val	rs149644496	missense variant	-	NC_000001.11:g.94209285T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr138Asn	rs748666537	missense variant	-	NC_000001.11:g.94209278G>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala140Val	rs1182349707	missense variant	-	NC_000001.11:g.94209272G>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly144Glu	COSM4864238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94209260C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gly144Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94209260C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ile146Thr	rs768713857	missense variant	-	NC_000001.11:g.94209254A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Leu147ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94208904_94208905insA	NCI-TCGA
ARHGAP29	Q52LW3	p.Thr148Ile	rs775510708	missense variant	-	NC_000001.11:g.94208899G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asn149Asp	rs989045761	missense variant	-	NC_000001.11:g.94208897T>C	TOPMed
ARHGAP29	Q52LW3	p.Phe150Leu	rs1319808477	missense variant	-	NC_000001.11:g.94208892G>T	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu151Phe	rs770046057	missense variant	-	NC_000001.11:g.94208891G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met152Thr	rs1320840795	missense variant	-	NC_000001.11:g.94208887A>G	gnomAD
ARHGAP29	Q52LW3	p.Asp154Gly	rs369329153	missense variant	-	NC_000001.11:g.94208881T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val155Ile	rs758209049	missense variant	-	NC_000001.11:g.94208879C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly156Arg	rs1164540347	missense variant	-	NC_000001.11:g.94208876C>G	gnomAD
ARHGAP29	Q52LW3	p.Asn157Ser	rs747832983	missense variant	-	NC_000001.11:g.94208872T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg162Ter	rs1187150388	stop gained	-	NC_000001.11:g.94208858G>A	gnomAD
ARHGAP29	Q52LW3	p.Arg162Gln	rs779009673	missense variant	-	NC_000001.11:g.94208857C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val165Asp	rs1450139524	missense variant	-	NC_000001.11:g.94208848A>T	gnomAD
ARHGAP29	Q52LW3	p.Arg167Gly	rs1007475915	missense variant	-	NC_000001.11:g.94208843G>C	TOPMed
ARHGAP29	Q52LW3	p.Glu168Gly	rs1464796896	missense variant	-	NC_000001.11:g.94208839T>C	TOPMed
ARHGAP29	Q52LW3	p.Thr169Ile	rs147597337	missense variant	-	NC_000001.11:g.94208836G>A	ESP
ARHGAP29	Q52LW3	p.Ser171Leu	rs1272527386	missense variant	-	NC_000001.11:g.94205682G>A	gnomAD
ARHGAP29	Q52LW3	p.Ser171Leu	rs1272527386	missense variant	-	NC_000001.11:g.94205682G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu173Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94205677C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Asn174Ser	rs756145394	missense variant	-	NC_000001.11:g.94205673T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser176Thr	rs1294183799	missense variant	-	NC_000001.11:g.94205668A>T	TOPMed
ARHGAP29	Q52LW3	p.Ser176Tyr	rs373148216	missense variant	-	NC_000001.11:g.94205667G>T	ESP,ExAC,TOPMed
ARHGAP29	Q52LW3	p.Glu178Lys	COSM4901809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94205662C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu178Asp	rs779773628	missense variant	-	NC_000001.11:g.94205660T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser182Thr	rs1276260327	missense variant	-	NC_000001.11:g.94205650A>T	gnomAD
ARHGAP29	Q52LW3	p.Ser182Leu	rs755650861	missense variant	-	NC_000001.11:g.94205649G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser182Leu	rs755650861	missense variant	-	NC_000001.11:g.94205649G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ser183Cys	rs1349371315	missense variant	-	NC_000001.11:g.94205646G>C	gnomAD
ARHGAP29	Q52LW3	p.Ser184Asn	rs749841124	missense variant	-	NC_000001.11:g.94205643C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu185Lys	COSM3866283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94205641C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gly187Glu	rs1490725729	missense variant	-	NC_000001.11:g.94205198C>T	TOPMed
ARHGAP29	Q52LW3	p.Gly187Glu	rs1490725729	missense variant	-	NC_000001.11:g.94205198C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gly187GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94205636T>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Asn188His	rs780539328	missense variant	-	NC_000001.11:g.94205196T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn188Ser	rs1482258004	missense variant	-	NC_000001.11:g.94205195T>C	gnomAD
ARHGAP29	Q52LW3	p.Asn188Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94205194A>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Ser190Phe	COSM1688074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94205189G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Pro191Leu	COSM3493555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94205186G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Leu192Ser	rs1204136399	missense variant	-	NC_000001.11:g.94205183A>G	gnomAD
ARHGAP29	Q52LW3	p.Leu192Phe	rs751203738	missense variant	-	NC_000001.11:g.94205182T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu194Val	rs1355757280	missense variant	-	NC_000001.11:g.94205178G>C	gnomAD
ARHGAP29	Q52LW3	p.Asp195Gly	rs573851918	missense variant	-	NC_000001.11:g.94205174T>C	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asn196Ser	rs560324828	missense variant	-	NC_000001.11:g.94205171T>C	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val197Leu	rs142196186	missense variant	-	NC_000001.11:g.94205169C>G	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val197Met	rs142196186	missense variant	-	NC_000001.11:g.94205169C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys200Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94205158C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Thr202Ala	rs1397706869	missense variant	-	NC_000001.11:g.94205154T>C	gnomAD
ARHGAP29	Q52LW3	p.Asp203Glu	rs766352013	missense variant	-	NC_000001.11:g.94205149G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser204Cys	rs532106482	missense variant	-	NC_000001.11:g.94205147G>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser204Cys	rs532106482	missense variant	-	NC_000001.11:g.94205147G>C	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser204Thr	rs761041430	missense variant	-	NC_000001.11:g.94205148A>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile205Val	rs773573586	missense variant	-	NC_000001.11:g.94205145T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile205Thr	rs966941867	missense variant	-	NC_000001.11:g.94205144A>G	TOPMed
ARHGAP29	Q52LW3	p.Glu206Lys	rs762862612	missense variant	-	NC_000001.11:g.94205142C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu206Lys	rs762862612	missense variant	-	NC_000001.11:g.94205142C>T	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ala208Val	rs145191614	missense variant	-	NC_000001.11:g.94205135G>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala212Thr	rs769812766	missense variant	-	NC_000001.11:g.94205124C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr214Ala	rs537507050	missense variant	-	NC_000001.11:g.94205118T>C	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Trp215Cys	rs766873724	missense variant	-	NC_000001.11:g.94205113C>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Tyr218Cys	rs1021074591	missense variant	-	NC_000001.11:g.94205105T>C	TOPMed
ARHGAP29	Q52LW3	p.Asn221Ser	rs780813691	missense variant	-	NC_000001.11:g.94205096T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile222Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94205094T>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Val223Ala	rs770423227	missense variant	-	NC_000001.11:g.94205090A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser224Leu	rs1486020633	missense variant	-	NC_000001.11:g.94205087G>A	gnomAD
ARHGAP29	Q52LW3	p.Val226Ala	rs1401806484	missense variant	-	NC_000001.11:g.94205081A>G	gnomAD
ARHGAP29	Q52LW3	p.Val226Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94205082C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu227Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94205077T>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Lys229Arg	rs1264476540	missense variant	-	NC_000001.11:g.94205072T>C	gnomAD
ARHGAP29	Q52LW3	p.Leu230AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94205071_94205072insT	NCI-TCGA
ARHGAP29	Q52LW3	p.Asn231Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94205067_94205068insA	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu232Phe	rs1431464764	missense variant	-	NC_000001.11:g.94205062C>G	TOPMed
ARHGAP29	Q52LW3	p.Glu233Lys	rs746453594	missense variant	-	NC_000001.11:g.94205061C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu233Lys	rs746453594	missense variant	-	NC_000001.11:g.94205061C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Leu234Ser	rs1330827428	missense variant	-	NC_000001.11:g.94203991A>G	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu234Trp	rs1330827428	missense variant	-	NC_000001.11:g.94203991A>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser236Phe	rs1299495644	missense variant	-	NC_000001.11:g.94203985G>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser236Phe	rs1299495644	missense variant	-	NC_000001.11:g.94203985G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Thr237Ser	rs1190367816	missense variant	-	NC_000001.11:g.94203983T>A	gnomAD
ARHGAP29	Q52LW3	p.Arg238Gly	rs1346357294	missense variant	-	NC_000001.11:g.94203980T>C	gnomAD
ARHGAP29	Q52LW3	p.Asn239Tyr	rs1162713839	missense variant	-	NC_000001.11:g.94203977T>A	TOPMed
ARHGAP29	Q52LW3	p.Met240Val	rs1487401928	missense variant	-	NC_000001.11:g.94203974T>C	gnomAD
ARHGAP29	Q52LW3	p.Met240Thr	rs762094116	missense variant	-	NC_000001.11:g.94203973A>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met240Arg	rs762094116	missense variant	-	NC_000001.11:g.94203973A>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val241Asp	rs1427893982	missense variant	-	NC_000001.11:g.94203970A>T	gnomAD
ARHGAP29	Q52LW3	p.Glu245Lys	rs1457639532	missense variant	-	NC_000001.11:g.94203959C>T	TOPMed
ARHGAP29	Q52LW3	p.Thr247Ser	rs764929167	missense variant	-	NC_000001.11:g.94203952G>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg248Gly	rs759585723	missense variant	-	NC_000001.11:g.94203950T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr249Asn	rs776437130	missense variant	-	NC_000001.11:g.94203946G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr249Ile	rs776437130	missense variant	-	NC_000001.11:g.94203946G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile251Val	rs868866556	missense variant	-	NC_000001.11:g.94203941T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile251Thr	rs770801204	missense variant	-	NC_000001.11:g.94203940A>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly252Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94203937C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Met257Leu	rs1181867971	missense variant	-	NC_000001.11:g.94203204T>G	gnomAD
ARHGAP29	Q52LW3	p.Ser261Ala	rs772764382	missense variant	-	NC_000001.11:g.94203192A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asn265Lys	rs61743723	missense variant	-	NC_000001.11:g.94203178A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn265Asp	rs1253343962	missense variant	-	NC_000001.11:g.94203180T>C	TOPMed
ARHGAP29	Q52LW3	p.Ala266Val	rs1006013042	missense variant	-	NC_000001.11:g.94203176G>A	gnomAD
ARHGAP29	Q52LW3	p.Ala266Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94203176G>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu267Val	rs201765549	missense variant	-	NC_000001.11:g.94203174G>C	1000Genomes,ExAC
ARHGAP29	Q52LW3	p.Asn269Asp	rs773884869	missense variant	-	NC_000001.11:g.94203168T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp270Asn	rs1020434901	missense variant	-	NC_000001.11:g.94203165C>T	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile271Thr	rs749646127	missense variant	-	NC_000001.11:g.94203161A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile271Val	rs768305509	missense variant	-	NC_000001.11:g.94203162T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser274Arg	rs1280250780	missense variant	-	NC_000001.11:g.94203151A>T	gnomAD
ARHGAP29	Q52LW3	p.Ser274Asn	rs780534478	missense variant	-	NC_000001.11:g.94203152C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.His275Tyr	rs770471389	missense variant	-	NC_000001.11:g.94203150G>A	ExAC
ARHGAP29	Q52LW3	p.Leu276Phe	rs199617870	missense variant	-	NC_000001.11:g.94203147G>A	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu277Ser	rs368132743	missense variant	-	NC_000001.11:g.94203143A>G	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln278Leu	rs757289397	missense variant	-	NC_000001.11:g.94203140T>A	ExAC
ARHGAP29	Q52LW3	p.Gln279Arg	rs148180105	missense variant	-	NC_000001.11:g.94203137T>C	ESP,ExAC
ARHGAP29	Q52LW3	p.Thr280Ala	rs758610615	missense variant	-	NC_000001.11:g.94203135T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile281Val	rs989355352	missense variant	-	NC_000001.11:g.94203132T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala283Val	rs753618491	missense variant	-	NC_000001.11:g.94203125G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Leu284His	rs766142489	missense variant	-	NC_000001.11:g.94203122A>T	ExAC
ARHGAP29	Q52LW3	p.Ala286Thr	rs1158705444	missense variant	-	NC_000001.11:g.94203117C>T	gnomAD
ARHGAP29	Q52LW3	p.Lys288Ter	rs750362161	stop gained	-	NC_000001.11:g.94203111T>A	ExAC
ARHGAP29	Q52LW3	p.Lys288Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94203110T>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Gln291Arg	rs1472178255	missense variant	-	NC_000001.11:g.94203101T>C	gnomAD
ARHGAP29	Q52LW3	p.Gln291His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94203100C>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Pro292Arg	rs1166048945	missense variant	-	NC_000001.11:g.94202997G>C	gnomAD
ARHGAP29	Q52LW3	p.Pro292GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94202989_94202998CAAGTAGAGG>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg296SerPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000001.11:g.94202984_94202985insTAAAATATTGTCTTAA	NCI-TCGA
ARHGAP29	Q52LW3	p.Asn298Thr	rs1445806157	missense variant	-	NC_000001.11:g.94202979T>G	gnomAD
ARHGAP29	Q52LW3	p.Met300Val	rs1390076216	missense variant	-	NC_000001.11:g.94202974T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu301Gly	rs747093779	missense variant	-	NC_000001.11:g.94202970T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Lys302Ile	rs777881884	missense variant	-	NC_000001.11:g.94202967T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg304Ser	rs1008764547	missense variant	-	NC_000001.11:g.94202960C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg304Ser	rs1008764547	missense variant	-	NC_000001.11:g.94202960C>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg304Lys	rs1242918690	missense variant	-	NC_000001.11:g.94202961C>T	gnomAD
ARHGAP29	Q52LW3	p.Glu306Ter	COSM3806171	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94202956C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu306Gly	rs1449971217	missense variant	-	NC_000001.11:g.94202955T>C	gnomAD
ARHGAP29	Q52LW3	p.Glu309Lys	rs758599168	missense variant	-	NC_000001.11:g.94202947C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Leu310Phe	rs1189420954	missense variant	-	NC_000001.11:g.94202944G>A	TOPMed
ARHGAP29	Q52LW3	p.Lys312Glu	rs1421867356	missense variant	-	NC_000001.11:g.94202938T>C	TOPMed
ARHGAP29	Q52LW3	p.Gln313Leu	rs779037081	missense variant	-	NC_000001.11:g.94202934T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu314Gly	rs1244948919	missense variant	-	NC_000001.11:g.94202931T>C	gnomAD
ARHGAP29	Q52LW3	p.Glu314Gln	rs143446292	missense variant	-	NC_000001.11:g.94202932C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln315Lys	rs750165864	missense variant	-	NC_000001.11:g.94202929G>T	ExAC,TOPMed
ARHGAP29	Q52LW3	p.Lys317Glu	rs1459378511	missense variant	-	NC_000001.11:g.94202923T>C	TOPMed
ARHGAP29	Q52LW3	p.Ala321Thr	rs779124989	missense variant	-	NC_000001.11:g.94202726C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu322Asp	COSM1474268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202721C>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asn323Tyr	rs1160150225	missense variant	-	NC_000001.11:g.94202720T>A	TOPMed
ARHGAP29	Q52LW3	p.Ala324Asp	rs1321047262	missense variant	-	NC_000001.11:g.94202716G>T	gnomAD
ARHGAP29	Q52LW3	p.Lys326Ter	rs863225063	stop gained	-	NC_000001.11:g.94202711T>A	TOPMed
ARHGAP29	Q52LW3	p.Lys326Ter	RCV000201264	nonsense	-	NC_000001.11:g.94202711T>A	ClinVar
ARHGAP29	Q52LW3	p.Lys326Arg	rs1284803120	missense variant	-	NC_000001.11:g.94202710T>C	gnomAD
ARHGAP29	Q52LW3	p.Lys326Gln	rs863225063	missense variant	-	NC_000001.11:g.94202711T>G	TOPMed
ARHGAP29	Q52LW3	p.Lys327Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94202707T>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Ala328Ser	COSM3985327	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202705C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Lys329Asn	rs755149973	missense variant	-	NC_000001.11:g.94202700T>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Cys332Tyr	COSM4868128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202692C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Met333Ile	rs1355603243	missense variant	-	NC_000001.11:g.94202688C>T	gnomAD
ARHGAP29	Q52LW3	p.Met333Thr	rs757199130	missense variant	-	NC_000001.11:g.94202689A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln334His	rs200290075	missense variant	-	NC_000001.11:g.94202685T>A	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg335His	rs757995655	missense variant	-	NC_000001.11:g.94202683C>T	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg335His	rs757995655	missense variant	-	NC_000001.11:g.94202683C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg335Cys	rs763872689	missense variant	-	NC_000001.11:g.94202684G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp337Gly	rs138559066	missense variant	-	NC_000001.11:g.94202677T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Tyr339Cys	rs1178996109	missense variant	-	NC_000001.11:g.94202671T>C	gnomAD
ARHGAP29	Q52LW3	p.Ala342Gly	rs1481606017	missense variant	-	NC_000001.11:g.94202662G>C	gnomAD
ARHGAP29	Q52LW3	p.Lys343ValPheSerTerUnkUnk	COSM426868	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94202659_94202660TT>-	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser345Phe	rs555923720	missense variant	-	NC_000001.11:g.94202653G>A	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Met346Val	rs988995413	missense variant	-	NC_000001.11:g.94202651T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met346Thr	rs1459761979	missense variant	-	NC_000001.11:g.94202650A>G	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg348His	rs140877322	missense variant	-	NC_000001.11:g.94202644C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg348Cys	rs777187517	missense variant	-	NC_000001.11:g.94202645G>A	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg348Cys	rs777187517	missense variant	-	NC_000001.11:g.94202645G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg348Leu	rs140877322	missense variant	-	NC_000001.11:g.94202644C>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg348His	rs140877322	missense variant	-	NC_000001.11:g.94202644C>T	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu351Asp	rs1328011863	missense variant	-	NC_000001.11:g.94202634C>G	gnomAD
ARHGAP29	Q52LW3	p.Ser355Tyr	rs971985804	missense variant	-	NC_000001.11:g.94202623G>T	gnomAD
ARHGAP29	Q52LW3	p.Ser355Pro	rs1374777486	missense variant	-	NC_000001.11:g.94202624A>G	gnomAD
ARHGAP29	Q52LW3	p.Ser355Phe	rs971985804	missense variant	-	NC_000001.11:g.94202623G>A	gnomAD
ARHGAP29	Q52LW3	p.Gly358Asp	COSM1345019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202614C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gly359Glu	COSM3493545	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202611C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gly359Arg	rs144191284	missense variant	-	NC_000001.11:g.94202612C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly359Arg	rs144191284	missense variant	-	NC_000001.11:g.94202612C>T	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gly359Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94202611C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ala361Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94202605G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Asn363IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94202599T>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Asn363Ser	rs1279695037	missense variant	-	NC_000001.11:g.94202599T>C	TOPMed
ARHGAP29	Q52LW3	p.Leu364Phe	COSM3493543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202597G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu369Gln	COSM3790359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94202582C>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu369Lys	rs774382335	missense variant	-	NC_000001.11:g.94202582C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Lys371SerPheSerTerUnkUnk	COSM1345018	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94202575T>-	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg372Gln	rs768915881	missense variant	-	NC_000001.11:g.94202572C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg372Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.94202573G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg372Gln	rs768915881	missense variant	-	NC_000001.11:g.94202572C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu374Ser	rs1442567563	missense variant	-	NC_000001.11:g.94202566A>G	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu377Ter	rs1244787359	stop gained	-	NC_000001.11:g.94202558C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu377Ter	rs1244787359	stop gained	-	NC_000001.11:g.94202558C>A	gnomAD
ARHGAP29	Q52LW3	p.Ala378Val	rs749497336	missense variant	-	NC_000001.11:g.94202554G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Leu379Phe	rs1258577148	missense variant	-	NC_000001.11:g.94202552G>A	gnomAD
ARHGAP29	Q52LW3	p.Gln380Pro	rs1191494940	missense variant	-	NC_000001.11:g.94202548T>G	TOPMed
ARHGAP29	Q52LW3	p.Val382Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94202544T>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu384Ala	rs750848061	missense variant	-	NC_000001.11:g.94201850T>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu387Asp	rs111880620	missense variant	-	NC_000001.11:g.94201840T>A	TOPMed
ARHGAP29	Q52LW3	p.Glu387Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94201842C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu388Val	rs762371367	missense variant	-	NC_000001.11:g.94201839G>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu388Ile	rs762371367	missense variant	-	NC_000001.11:g.94201839G>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn395Asp	rs1337891345	missense variant	-	NC_000001.11:g.94201818T>C	gnomAD
ARHGAP29	Q52LW3	p.Glu397Gly	rs1253490973	missense variant	-	NC_000001.11:g.94201811T>C	gnomAD
ARHGAP29	Q52LW3	p.Glu398Ter	COSM278951	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94201809C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg399Thr	COSM6064494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94201805C>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asp402Tyr	rs1228597010	missense variant	-	NC_000001.11:g.94201797C>A	gnomAD
ARHGAP29	Q52LW3	p.Asp402Glu	rs911688842	missense variant	-	NC_000001.11:g.94201795A>T	TOPMed
ARHGAP29	Q52LW3	p.Asn405Ser	rs752065148	missense variant	-	NC_000001.11:g.94201787T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr406Ile	rs146791639	missense variant	-	NC_000001.11:g.94201784G>A	ESP,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys407Glu	rs1225441337	missense variant	-	NC_000001.11:g.94201782T>C	gnomAD
ARHGAP29	Q52LW3	p.Lys407Asn	rs1346172800	missense variant	-	NC_000001.11:g.94201780T>A	gnomAD
ARHGAP29	Q52LW3	p.Ala412Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94201767C>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu414Phe	rs763118604	missense variant	-	NC_000001.11:g.94201761G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg415Gln	rs770096777	missense variant	-	NC_000001.11:g.94201757C>T	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg415Trp	rs775392961	missense variant	-	NC_000001.11:g.94201758G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg415Gln	rs770096777	missense variant	-	NC_000001.11:g.94201757C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr416Arg	rs759659645	missense variant	-	NC_000001.11:g.94201754G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Val418Leu	rs148959325	missense variant	-	NC_000001.11:g.94201749C>G	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val418Ile	rs148959325	missense variant	-	NC_000001.11:g.94201749C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln420Arg	rs1460391391	missense variant	-	NC_000001.11:g.94201742T>C	TOPMed
ARHGAP29	Q52LW3	p.Thr424Ala	rs779013793	missense variant	-	NC_000001.11:g.94201731T>C	ExAC
ARHGAP29	Q52LW3	p.Thr429Arg	COSM3966813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94190079G>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Leu432Val	rs1187526396	missense variant	-	NC_000001.11:g.94190071G>C	TOPMed
ARHGAP29	Q52LW3	p.Met435Val	rs1422086794	missense variant	-	NC_000001.11:g.94190062T>C	TOPMed
ARHGAP29	Q52LW3	p.Gln436Arg	COSM6127808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94190058T>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gln436Leu	rs761728506	missense variant	-	NC_000001.11:g.94190058T>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser442Phe	rs1168172960	missense variant	-	NC_000001.11:g.94190040G>A	TOPMed
ARHGAP29	Q52LW3	p.Leu443Val	rs559908965	missense variant	-	NC_000001.11:g.94190038G>C	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp445Glu	rs767124342	missense variant	-	NC_000001.11:g.94190030G>C	TOPMed
ARHGAP29	Q52LW3	p.Ser446Gly	rs768683730	missense variant	-	NC_000001.11:g.94190029T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser446Cys	rs768683730	missense variant	-	NC_000001.11:g.94190029T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser449Phe	rs749168376	missense variant	-	NC_000001.11:g.94190019G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Leu450Phe	rs377195727	missense variant	-	NC_000001.11:g.94190017G>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu450Val	rs377195727	missense variant	-	NC_000001.11:g.94190017G>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Cys451Ser	rs780846704	missense variant	-	NC_000001.11:g.94190013C>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Cys451Phe	rs780846704	missense variant	-	NC_000001.11:g.94190013C>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser453Cys	rs756862814	missense variant	-	NC_000001.11:g.94190008T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala454Val	rs1256345812	missense variant	-	NC_000001.11:g.94190004G>A	gnomAD
ARHGAP29	Q52LW3	p.Leu456Arg	COSM1345017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94189998A>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Leu456Phe	rs1349239092	missense variant	-	NC_000001.11:g.94189999G>A	TOPMed
ARHGAP29	Q52LW3	p.Tyr457Cys	rs753143329	missense variant	-	NC_000001.11:g.94189995T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp458Gly	rs765713461	missense variant	-	NC_000001.11:g.94189992T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp458Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94189993C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Gly460Ser	rs1383909298	missense variant	-	NC_000001.11:g.94189987C>T	gnomAD
ARHGAP29	Q52LW3	p.Gln461Arg	rs150046824	missense variant	-	NC_000001.11:g.94189983T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln461Glu	rs371413908	missense variant	-	NC_000001.11:g.94189984G>C	ESP,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln461Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94189984G>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu462Lys	rs760955075	missense variant	-	NC_000001.11:g.94189981C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu462Gln	rs760955075	missense variant	-	NC_000001.11:g.94189981C>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser464Arg	rs533027050	missense variant	-	NC_000001.11:g.94189975T>G	1000Genomes,gnomAD
ARHGAP29	Q52LW3	p.Ser464Asn	rs774342427	missense variant	-	NC_000001.11:g.94189974C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu465Asp	rs762740606	missense variant	-	NC_000001.11:g.94189970T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Phe466Leu	rs1315341960	missense variant	-	NC_000001.11:g.94189969A>G	TOPMed
ARHGAP29	Q52LW3	p.Val467Phe	rs199964156	missense variant	-	NC_000001.11:g.94189966C>A	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Lys468Glu	rs1361108330	missense variant	-	NC_000001.11:g.94189963T>C	TOPMed
ARHGAP29	Q52LW3	p.Ala469Thr	rs745414203	missense variant	-	NC_000001.11:g.94189960C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asn471Asp	rs776090818	missense variant	-	NC_000001.11:g.94189954T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser472Leu	COSM913490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94189950G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser472Thr	rs770621151	missense variant	-	NC_000001.11:g.94189951A>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr473Ala	rs746653996	missense variant	-	NC_000001.11:g.94189948T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu476Gly	rs758699064	missense variant	-	NC_000001.11:g.94189938T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu476Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94189939C>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Val478Ala	rs1237551084	missense variant	-	NC_000001.11:g.94189932A>G	gnomAD
ARHGAP29	Q52LW3	p.Asp479His	rs748490963	missense variant	-	NC_000001.11:g.94189930C>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Asp479His	rs748490963	missense variant	-	NC_000001.11:g.94189930C>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser488Gly	rs137861305	missense variant	-	NC_000001.11:g.94189330T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln490Ter	rs1415587183	stop gained	-	NC_000001.11:g.94189324G>A	gnomAD
ARHGAP29	Q52LW3	p.Pro491Ser	rs149093475	missense variant	-	NC_000001.11:g.94189321G>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser492Ter	RCV000491051	nonsense	Nonsyndromic cleft lip with or without cleft palate	NC_000001.11:g.94189317G>T	ClinVar
ARHGAP29	Q52LW3	p.Ser492Ter	rs1114167281	stop gained	-	NC_000001.11:g.94189317G>T	-
ARHGAP29	Q52LW3	p.Gly493Glu	rs201387637	missense variant	-	NC_000001.11:g.94189314C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly493Arg	rs1377380413	missense variant	-	NC_000001.11:g.94189315C>T	gnomAD
ARHGAP29	Q52LW3	p.Gly495Arg	COSM3493541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94189309C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gly495Arg	rs1296358510	missense variant	-	NC_000001.11:g.94189309C>G	gnomAD
ARHGAP29	Q52LW3	p.Leu500Val	rs756274736	missense variant	-	NC_000001.11:g.94189294A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu501Asp	COSM426867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94189289C>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asp502Val	rs775193842	missense variant	-	NC_000001.11:g.94189287T>A	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asp502Val	rs775193842	missense variant	-	NC_000001.11:g.94189287T>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val503Ala	rs374917504	missense variant	-	NC_000001.11:g.94189284A>G	ESP,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Val503Ile	rs1284706007	missense variant	-	NC_000001.11:g.94189285C>T	gnomAD
ARHGAP29	Q52LW3	p.Val504Ile	rs757470772	missense variant	-	NC_000001.11:g.94189282C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg505His	rs765069221	missense variant	-	NC_000001.11:g.94189278C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg505Cys	rs752485532	missense variant	-	NC_000001.11:g.94189279G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn511Tyr	rs1408550874	missense variant	-	NC_000001.11:g.94189261T>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile513Thr	rs61758880	missense variant	-	NC_000001.11:g.94189254A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp516Tyr	rs766251103	missense variant	-	NC_000001.11:g.94189246C>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg517Gly	rs760204034	missense variant	-	NC_000001.11:g.94189243T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser519Cys	rs772743580	missense variant	-	NC_000001.11:g.94189236G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser521Asn	rs1471059831	missense variant	-	NC_000001.11:g.94189230C>T	gnomAD
ARHGAP29	Q52LW3	p.Ala522Gly	rs771666512	missense variant	-	NC_000001.11:g.94189227G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp523Ala	rs761510733	missense variant	-	NC_000001.11:g.94189224T>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile524Val	rs532953220	missense variant	-	NC_000001.11:g.94189222T>C	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile524Thr	rs372270954	missense variant	-	NC_000001.11:g.94189221A>G	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile524Arg	rs372270954	missense variant	-	NC_000001.11:g.94189221A>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly526Asp	rs1178637205	missense variant	-	NC_000001.11:g.94188941C>T	TOPMed
ARHGAP29	Q52LW3	p.Pro527Arg	rs749955367	missense variant	-	NC_000001.11:g.94188938G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Pro527Leu	rs749955367	missense variant	-	NC_000001.11:g.94188938G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Phe529Cys	rs1376150424	missense variant	-	NC_000001.11:g.94188932A>C	TOPMed
ARHGAP29	Q52LW3	p.Arg531Lys	rs140415139	missense variant	-	NC_000001.11:g.94188926C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Trp533Arg	rs187873184	missense variant	-	NC_000001.11:g.94188921A>T	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr534Ala	rs774066187	missense variant	-	NC_000001.11:g.94188918T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Phe535Val	COSM682641	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94188915A>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Phe535Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94188915A>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Phe538Leu	rs140986428	missense variant	-	NC_000001.11:g.94188904A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser539Arg	rs917472145	missense variant	-	NC_000001.11:g.94188901A>C	TOPMed
ARHGAP29	Q52LW3	p.Ser539Gly	rs775965690	missense variant	-	NC_000001.11:g.94188903T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser543Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94188891T>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Thr544Ile	rs1381909468	missense variant	-	NC_000001.11:g.94188887G>A	gnomAD
ARHGAP29	Q52LW3	p.Thr544Ala	rs993042870	missense variant	-	NC_000001.11:g.94188888T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly546Arg	COSM5900989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94188882C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu549Lys	COSM3493540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94188873C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu549Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.94188873C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg551Ile	rs776642953	missense variant	-	NC_000001.11:g.94188866C>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser552Cys	VAR_038552	Missense	-	-	UniProt
ARHGAP29	Q52LW3	p.Ile558Val	rs771049716	missense variant	-	NC_000001.11:g.94188846T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile558Val	rs771049716	missense variant	-	NC_000001.11:g.94188846T>C	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Pro560Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94188839G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Gly561Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94188837C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Asp562Glu	rs1290525050	missense variant	-	NC_000001.11:g.94186593G>T	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.His564Asp	rs771296450	missense variant	-	NC_000001.11:g.94186589G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg565Gln	rs747148271	missense variant	-	NC_000001.11:g.94186585C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg565Gln	rs747148271	missense variant	-	NC_000001.11:g.94186585C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro568Ser	rs866478383	missense variant	-	NC_000001.11:g.94186577G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Pro568Ser	rs866478383	missense variant	-	NC_000001.11:g.94186577G>A	-
ARHGAP29	Q52LW3	p.Pro568HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94186576G>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg569Gly	rs775470876	missense variant	-	NC_000001.11:g.94186574G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg569Gln	rs867470445	missense variant	-	NC_000001.11:g.94186573C>T	TOPMed
ARHGAP29	Q52LW3	p.Arg569Ter	rs775470876	stop gained	-	NC_000001.11:g.94186574G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser573Ile	rs963523409	missense variant	-	NC_000001.11:g.94186561C>A	TOPMed
ARHGAP29	Q52LW3	p.Thr575Ser	rs772334179	missense variant	-	NC_000001.11:g.94186555G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Met576Val	rs148550448	missense variant	-	NC_000001.11:g.94186553T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp581Asn	COSM3806168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94186538C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg585Gly	rs769642118	missense variant	-	NC_000001.11:g.94186526T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu586Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94186523C>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Pro588LeuPheSerTerUnkUnk	COSM913489	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94186516G>-	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Pro588Leu	rs1253323473	missense variant	-	NC_000001.11:g.94186516G>A	gnomAD
ARHGAP29	Q52LW3	p.Glu592Ter	COSM913488	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94186505C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Thr593Pro	COSM4912424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94186502T>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Thr593Ile	rs368636916	missense variant	-	NC_000001.11:g.94186501G>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr593Ala	rs1195357639	missense variant	-	NC_000001.11:g.94186502T>C	TOPMed
ARHGAP29	Q52LW3	p.Asn596Ser	rs774576132	missense variant	-	NC_000001.11:g.94185475T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu598Phe	rs149253725	missense variant	-	NC_000001.11:g.94185470G>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly599Arg	rs745715163	missense variant	-	NC_000001.11:g.94185467C>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr600Ile	rs780827479	missense variant	-	NC_000001.11:g.94185463G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Phe601Leu	rs770959605	missense variant	-	NC_000001.11:g.94185459A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr604Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94185452T>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Met606Lys	rs1467484478	missense variant	-	NC_000001.11:g.94185445A>T	gnomAD
ARHGAP29	Q52LW3	p.Met606Leu	rs1402245846	missense variant	-	NC_000001.11:g.94185446T>A	gnomAD
ARHGAP29	Q52LW3	p.Thr612Arg	rs1271335316	missense variant	-	NC_000001.11:g.94185427G>C	TOPMed
ARHGAP29	Q52LW3	p.Thr612Arg	rs1271335316	missense variant	-	NC_000001.11:g.94185427G>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Thr612Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94185427G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Lys614Thr	rs777788420	missense variant	-	NC_000001.11:g.94185421T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys614Asn	rs1187043361	missense variant	-	NC_000001.11:g.94185420C>G	TOPMed
ARHGAP29	Q52LW3	p.Lys614ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94185421_94185422insTG	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg616His	rs374991521	missense variant	-	NC_000001.11:g.94185415C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg616Cys	rs561134145	missense variant	-	NC_000001.11:g.94185416G>A	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg616His	rs374991521	missense variant	-	NC_000001.11:g.94185415C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg616Cys	rs561134145	missense variant	-	NC_000001.11:g.94185416G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ser620Phe	rs267598780	missense variant	-	NC_000001.11:g.94185403G>A	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser620Pro	rs938304376	missense variant	-	NC_000001.11:g.94185404A>G	TOPMed
ARHGAP29	Q52LW3	p.Ser620Phe	rs267598780	missense variant	-	NC_000001.11:g.94185403G>A	-
ARHGAP29	Q52LW3	p.Thr622Ala	rs754282456	missense variant	-	NC_000001.11:g.94185398T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr622Met	rs901902219	missense variant	-	NC_000001.11:g.94185397G>A	TOPMed
ARHGAP29	Q52LW3	p.Gly629Asp	COSM913486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94185376C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gly629Ala	rs1453808849	missense variant	-	NC_000001.11:g.94185376C>G	TOPMed
ARHGAP29	Q52LW3	p.Ile630Val	rs1351510008	missense variant	-	NC_000001.11:g.94185374T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val631Ile	rs1327132660	missense variant	-	NC_000001.11:g.94185371C>T	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val632Gly	rs1240618636	missense variant	-	NC_000001.11:g.94185367A>C	gnomAD
ARHGAP29	Q52LW3	p.Phe633Leu	rs1277957156	missense variant	-	NC_000001.11:g.94185363G>C	TOPMed
ARHGAP29	Q52LW3	p.Gln634Ter	rs1358403412	stop gained	-	NC_000001.11:g.94185362G>A	gnomAD
ARHGAP29	Q52LW3	p.Glu639Lys	rs1340685100	missense variant	-	NC_000001.11:g.94185347C>T	gnomAD
ARHGAP29	Q52LW3	p.Glu640Gln	rs774263077	missense variant	-	NC_000001.11:g.94185344C>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu640Gly	rs1379959384	missense variant	-	NC_000001.11:g.94185343T>C	gnomAD
ARHGAP29	Q52LW3	p.Glu640Lys	rs774263077	missense variant	-	NC_000001.11:g.94185344C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Cys641Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94185060A>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg647Gln	rs748894382	missense variant	-	NC_000001.11:g.94185041C>T	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg647Gln	rs748894382	missense variant	-	NC_000001.11:g.94185041C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg647Gly	rs755173521	missense variant	-	NC_000001.11:g.94185042G>C	gnomAD
ARHGAP29	Q52LW3	p.Cys649ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94185037_94185038insT	NCI-TCGA
ARHGAP29	Q52LW3	p.Asn652Ile	rs1446059622	missense variant	-	NC_000001.11:g.94185026T>A	TOPMed
ARHGAP29	Q52LW3	p.Asn652Tyr	rs779696568	missense variant	-	NC_000001.11:g.94185027T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.His659Arg	rs1326027907	missense variant	-	NC_000001.11:g.94185005T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.His659Arg	rs1326027907	missense variant	-	NC_000001.11:g.94185005T>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Leu662Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94184996A>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Pro663Ser	rs374207528	missense variant	-	NC_000001.11:g.94184994G>A	ESP,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Pro663Thr	rs374207528	missense variant	-	NC_000001.11:g.94184994G>T	ESP,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gly664Glu	COSM1688071	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184990C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ile666Thr	rs768050900	missense variant	-	NC_000001.11:g.94184984A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.His667Tyr	rs764090841	missense variant	-	NC_000001.11:g.94184982G>A	gnomAD
ARHGAP29	Q52LW3	p.Gly670Glu	COSM3493536	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184972C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ala671Thr	rs757737646	missense variant	-	NC_000001.11:g.94184970C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Phe673Val	rs1217333885	missense variant	-	NC_000001.11:g.94184964A>C	TOPMed
ARHGAP29	Q52LW3	p.Thr674Ala	rs1478862521	missense variant	-	NC_000001.11:g.94184961T>C	gnomAD
ARHGAP29	Q52LW3	p.Thr674Ile	rs1424474646	missense variant	-	NC_000001.11:g.94184960G>A	gnomAD
ARHGAP29	Q52LW3	p.Thr674Lys	rs1424474646	missense variant	-	NC_000001.11:g.94184960G>T	gnomAD
ARHGAP29	Q52LW3	p.Gln675Glu	rs751717996	missense variant	-	NC_000001.11:g.94184958G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln675Lys	rs751717996	missense variant	-	NC_000001.11:g.94184958G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Lys679ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94184945T>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu680Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94184943C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Pro681Leu	rs1223507360	missense variant	-	NC_000001.11:g.94184939G>A	gnomAD
ARHGAP29	Q52LW3	p.Gly683Val	rs201425202	missense variant	-	NC_000001.11:g.94184933C>A	ESP,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile687Val	rs763023340	missense variant	-	NC_000001.11:g.94184922T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Cys691Tyr	COSM3493535	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184909C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser693Ter	COSM426866	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94184903G>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser693Ter	COSM415212	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94184903G>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser693Leu	rs1252903847	missense variant	-	NC_000001.11:g.94184903G>A	gnomAD
ARHGAP29	Q52LW3	p.Glu694Asp	rs1366119165	missense variant	-	NC_000001.11:g.94184899C>A	gnomAD
ARHGAP29	Q52LW3	p.Glu694Gln	rs760580938	missense variant	-	NC_000001.11:g.94184901C>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala699Val	rs1437662321	missense variant	-	NC_000001.11:g.94184885G>A	gnomAD
ARHGAP29	Q52LW3	p.Leu702Pro	rs141850321	missense variant	-	NC_000001.11:g.94184876A>G	ESP,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln703His	COSM1238213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184872C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gln703Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94184873T>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg707Cys	COSM465124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94184279G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Cys709TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94184270_94184271CA>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Gly710Arg	rs752810306	missense variant	-	NC_000001.11:g.94184270C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile713Thr	rs369895563	missense variant	-	NC_000001.11:g.94184260A>G	ESP,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr715Ala	rs1327878170	missense variant	-	NC_000001.11:g.94184255T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Cys719Tyr	rs1432434047	missense variant	-	NC_000001.11:g.94184242C>T	TOPMed
ARHGAP29	Q52LW3	p.Cys719Ser	rs1265124751	missense variant	-	NC_000001.11:g.94184243A>T	TOPMed
ARHGAP29	Q52LW3	p.Gln720Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.94184240G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ala721Pro	rs1193595640	missense variant	-	NC_000001.11:g.94184237C>G	TOPMed
ARHGAP29	Q52LW3	p.Ala721Pro	rs1193595640	missense variant	-	NC_000001.11:g.94184237C>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asn724Asp	rs1303564632	missense variant	-	NC_000001.11:g.94184228T>C	gnomAD
ARHGAP29	Q52LW3	p.Met726Thr	rs753958113	missense variant	-	NC_000001.11:g.94184221A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Met726Ile	rs375929219	missense variant	-	NC_000001.11:g.94184220C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.His727Tyr	rs761627797	missense variant	-	NC_000001.11:g.94184219G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.His727Arg	rs1421320405	missense variant	-	NC_000001.11:g.94184218T>C	gnomAD
ARHGAP29	Q52LW3	p.Leu728Phe	rs763749375	missense variant	-	NC_000001.11:g.94184214C>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val729Ile	rs762821054	missense variant	-	NC_000001.11:g.94184213C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile731Val	rs1415505877	missense variant	-	NC_000001.11:g.94184207T>C	gnomAD
ARHGAP29	Q52LW3	p.Ile731Val	rs1415505877	missense variant	-	NC_000001.11:g.94184207T>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Ser732Ala	rs1181949413	missense variant	-	NC_000001.11:g.94184204A>C	gnomAD
ARHGAP29	Q52LW3	p.Ser735Asn	rs1485230022	missense variant	-	NC_000001.11:g.94184194C>T	gnomAD
ARHGAP29	Q52LW3	p.His737Arg	rs769432957	missense variant	-	NC_000001.11:g.94184188T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Val742Ile	rs200371298	missense variant	-	NC_000001.11:g.94184174C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu743Trp	rs1323737884	missense variant	-	NC_000001.11:g.94184170A>C	gnomAD
ARHGAP29	Q52LW3	p.Leu743Phe	rs201288992	missense variant	-	NC_000001.11:g.94184169C>G	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu747Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94184159G>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Pro751Thr	rs1397666204	missense variant	-	NC_000001.11:g.94179954G>T	gnomAD
ARHGAP29	Q52LW3	p.Phe757Ser	rs776294524	missense variant	-	NC_000001.11:g.94179935A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg758Ter	rs267598779	stop gained	-	NC_000001.11:g.94179933G>A	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg758Gln	rs41311170	missense variant	-	NC_000001.11:g.94179932C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg758Leu	rs41311170	missense variant	-	NC_000001.11:g.94179932C>A	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg758Ter	rs267598779	stop gained	-	NC_000001.11:g.94179933G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg758Gln	rs41311170	missense variant	-	NC_000001.11:g.94179932C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Leu759Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94179928C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Tyr760Cys	rs773521335	missense variant	-	NC_000001.11:g.94179926T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Tyr760Ter	rs1483059896	stop gained	-	NC_000001.11:g.94179925G>C	TOPMed
ARHGAP29	Q52LW3	p.Lys761Gln	rs1206085827	missense variant	-	NC_000001.11:g.94179924T>G	TOPMed
ARHGAP29	Q52LW3	p.Lys761Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94179922C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Phe763Cys	rs1268560152	missense variant	-	NC_000001.11:g.94179917A>C	gnomAD
ARHGAP29	Q52LW3	p.Ile764Met	rs748717443	missense variant	-	NC_000001.11:g.94179913T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp765Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94179912C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu766Val	rs1456664235	missense variant	-	NC_000001.11:g.94179909G>C	gnomAD
ARHGAP29	Q52LW3	p.Glu769Lys	rs774828901	missense variant	-	NC_000001.11:g.94179900C>T	ExAC
ARHGAP29	Q52LW3	p.Gln771Lys	rs769177167	missense variant	-	NC_000001.11:g.94179894G>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln771Pro	rs749474685	missense variant	-	NC_000001.11:g.94179893T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val773Gly	rs1447600070	missense variant	-	NC_000001.11:g.94179887A>C	TOPMed
ARHGAP29	Q52LW3	p.Glu775Asp	rs1254292884	missense variant	-	NC_000001.11:g.94179880T>G	gnomAD
ARHGAP29	Q52LW3	p.Glu776Gln	COSM682642	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179879C>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu776Ter	COSM345107	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94179879C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gln777Pro	rs946146631	missense variant	-	NC_000001.11:g.94179875T>G	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln777Lys	rs756082347	missense variant	-	NC_000001.11:g.94179876G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln777Glu	rs756082347	missense variant	-	NC_000001.11:g.94179876G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln777Arg	rs946146631	missense variant	-	NC_000001.11:g.94179875T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln777Arg	rs946146631	missense variant	-	NC_000001.11:g.94179875T>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu778Lys	rs1310660604	missense variant	-	NC_000001.11:g.94179873C>T	gnomAD
ARHGAP29	Q52LW3	p.Thr779Ser	COSM1345014	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179870T>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Thr779Ala	rs11551175	missense variant	-	NC_000001.11:g.94179870T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr779Lys	rs1375544446	missense variant	-	NC_000001.11:g.94179869G>T	gnomAD
ARHGAP29	Q52LW3	p.Lys780Glu	rs758333836	missense variant	-	NC_000001.11:g.94179867T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Lys780Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94179867T>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu784Arg	rs754787593	missense variant	-	NC_000001.11:g.94179854A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp786Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94179849C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Lys787Gln	rs1368233219	missense variant	-	NC_000001.11:g.94179846T>G	TOPMed
ARHGAP29	Q52LW3	p.Trp789Cys	rs1378719135	missense variant	-	NC_000001.11:g.94179838C>A	gnomAD
ARHGAP29	Q52LW3	p.Trp789Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94179838C>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Pro790Ser	rs766056158	missense variant	-	NC_000001.11:g.94179837G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met792Val	rs138781972	missense variant	-	NC_000001.11:g.94179831T>C	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Met792Leu	COSM3493534	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179831T>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Met792Val	rs138781972	missense variant	-	NC_000001.11:g.94179831T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met792Ile	rs1368934923	missense variant	-	NC_000001.11:g.94179829C>T	TOPMed
ARHGAP29	Q52LW3	p.Cys793Tyr	rs1382429366	missense variant	-	NC_000001.11:g.94179827C>T	gnomAD
ARHGAP29	Q52LW3	p.Ile794Val	rs942693495	missense variant	-	NC_000001.11:g.94179825T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile796Thr	rs1442032742	missense variant	-	NC_000001.11:g.94179818A>G	gnomAD
ARHGAP29	Q52LW3	p.Asn797Asp	COSM3493533	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179816T>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg798Leu	rs41311172	missense variant	-	NC_000001.11:g.94179812C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg798Gln	rs41311172	missense variant	-	NC_000001.11:g.94179812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg798Gln	rs41311172	missense variant	-	NC_000001.11:g.94179812C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Ile799Leu	rs775023065	missense variant	-	NC_000001.11:g.94179810T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu800Phe	rs1239187493	missense variant	-	NC_000001.11:g.94179807G>A	gnomAD
ARHGAP29	Q52LW3	p.Lys804Glu	rs1470700078	missense variant	-	NC_000001.11:g.94179795T>C	gnomAD
ARHGAP29	Q52LW3	p.Lys804Asn	rs1311141761	missense variant	-	NC_000001.11:g.94179793T>A	gnomAD
ARHGAP29	Q52LW3	p.Lys804Arg	rs1351185381	missense variant	-	NC_000001.11:g.94179794T>C	gnomAD
ARHGAP29	Q52LW3	p.Asp805Glu	rs769085421	missense variant	-	NC_000001.11:g.94179790G>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp805His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94179792C>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu806Arg	COSM4402451	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179788A>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Leu806Phe	rs749675960	missense variant	-	NC_000001.11:g.94179789G>A	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Leu806Phe	rs749675960	missense variant	-	NC_000001.11:g.94179789G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu806Ile	rs749675960	missense variant	-	NC_000001.11:g.94179789G>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro811Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94179774G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ser813Leu	rs1397200831	missense variant	-	NC_000001.11:g.94179767G>A	gnomAD
ARHGAP29	Q52LW3	p.Phe815Val	COSM913484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94179762A>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser817Arg	rs1489443174	missense variant	-	NC_000001.11:g.94179754A>C	TOPMed
ARHGAP29	Q52LW3	p.His819Arg	rs770044018	missense variant	-	NC_000001.11:g.94179749T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile822Thr	rs1189369717	missense variant	-	NC_000001.11:g.94179740A>G	TOPMed
ARHGAP29	Q52LW3	p.Ile822Met	rs374266098	missense variant	-	NC_000001.11:g.94179739T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg827Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94179725C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Val828Leu	rs763613864	missense variant	-	NC_000001.11:g.94178166C>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.His831Arg	rs891527989	missense variant	-	NC_000001.11:g.94178156T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.His831IleValLeuPro	NCI-TCGA novel	insertion	-	NC_000001.11:g.94178154_94178155insTGGTAAAACTAT	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu833Lys	rs1052847239	missense variant	-	NC_000001.11:g.94178151C>T	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu834Asp	rs1375589352	missense variant	-	NC_000001.11:g.94178146T>G	TOPMed
ARHGAP29	Q52LW3	p.Glu834Gln	rs935673150	missense variant	-	NC_000001.11:g.94178148C>G	TOPMed
ARHGAP29	Q52LW3	p.Glu834Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.94178148C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Lys836Arg	rs1211314921	missense variant	-	NC_000001.11:g.94178141T>C	gnomAD
ARHGAP29	Q52LW3	p.Met837Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94178137C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Lys840Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94178129T>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu842Val	rs776739108	missense variant	-	NC_000001.11:g.94178124A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile845Val	rs537284114	missense variant	-	NC_000001.11:g.94178115T>C	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile845Leu	rs537284114	missense variant	-	NC_000001.11:g.94178115T>A	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile851Val	rs768564447	missense variant	-	NC_000001.11:g.94178097T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile851Leu	rs768564447	missense variant	-	NC_000001.11:g.94178097T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile851Phe	rs768564447	missense variant	-	NC_000001.11:g.94178097T>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro853Thr	rs1395916283	missense variant	-	NC_000001.11:g.94178091G>T	TOPMed
ARHGAP29	Q52LW3	p.Pro855Leu	rs749229547	missense variant	-	NC_000001.11:g.94178084G>A	ExAC
ARHGAP29	Q52LW3	p.Thr856Arg	rs1406232388	missense variant	-	NC_000001.11:g.94178081G>C	gnomAD
ARHGAP29	Q52LW3	p.Thr857Ser	rs1399831096	missense variant	-	NC_000001.11:g.94178078G>C	gnomAD
ARHGAP29	Q52LW3	p.Thr857Ala	rs1237242036	missense variant	-	NC_000001.11:g.94178079T>C	TOPMed
ARHGAP29	Q52LW3	p.Thr861Ser	rs755886644	missense variant	-	NC_000001.11:g.94178066G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr861Ser	rs1467199735	missense variant	-	NC_000001.11:g.94178067T>A	gnomAD
ARHGAP29	Q52LW3	p.Ile862Val	rs750036225	missense variant	-	NC_000001.11:g.94178064T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile862Thr	rs368604781	missense variant	-	NC_000001.11:g.94178063A>G	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser864Phe	rs1278238925	missense variant	-	NC_000001.11:g.94178057G>A	TOPMed
ARHGAP29	Q52LW3	p.Tyr868Cys	rs1485328300	missense variant	-	NC_000001.11:g.94178045T>C	TOPMed
ARHGAP29	Q52LW3	p.Gln871Glu	COSM3806165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94178037G>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gln871Arg	rs1468642701	missense variant	-	NC_000001.11:g.94178036T>C	gnomAD
ARHGAP29	Q52LW3	p.Arg873Cys	rs757039419	missense variant	-	NC_000001.11:g.94178031G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg873His	rs751101186	missense variant	-	NC_000001.11:g.94178030C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg873Cys	rs757039419	missense variant	-	NC_000001.11:g.94178031G>A	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Leu874Ser	COSM3493529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94178027A>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Val875Ile	rs147752270	missense variant	-	NC_000001.11:g.94178025C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr880Ile	rs763522442	missense variant	-	NC_000001.11:g.94178009G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Tyr881Ser	rs765586398	missense variant	-	NC_000001.11:g.94178006T>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser882ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94178001_94178004GTGA>-	NCI-TCGA
ARHGAP29	Q52LW3	p.Gln883Glu	rs1343479879	missense variant	-	NC_000001.11:g.94178001G>C	gnomAD
ARHGAP29	Q52LW3	p.Lys884Arg	rs1277042794	missense variant	-	NC_000001.11:g.94177997T>C	gnomAD
ARHGAP29	Q52LW3	p.Ile885Val	rs865994687	missense variant	-	NC_000001.11:g.94177995T>C	TOPMed
ARHGAP29	Q52LW3	p.Ile885Met	rs1376459275	missense variant	-	NC_000001.11:g.94177993G>C	gnomAD
ARHGAP29	Q52LW3	p.Asp887Asn	rs535109077	missense variant	-	NC_000001.11:g.94177989C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp887Gly	rs1401180476	missense variant	-	NC_000001.11:g.94177988T>C	gnomAD
ARHGAP29	Q52LW3	p.Asp887Tyr	rs535109077	missense variant	-	NC_000001.11:g.94177989C>A	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly888Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94177986C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Gln893Pro	rs143877998	missense variant	-	NC_000001.11:g.94177970T>G	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln893Arg	rs143877998	missense variant	-	NC_000001.11:g.94177970T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp894Asn	rs1163149287	missense variant	-	NC_000001.11:g.94177968C>T	gnomAD
ARHGAP29	Q52LW3	p.Met896Leu	rs749204768	missense variant	-	NC_000001.11:g.94177962T>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met896Thr	rs1390043605	missense variant	-	NC_000001.11:g.94177961A>G	TOPMed
ARHGAP29	Q52LW3	p.Val901Gly	rs1233012147	missense variant	-	NC_000001.11:g.94177946A>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val901Ile	rs552545188	missense variant	-	NC_000001.11:g.94177947C>T	1000Genomes,gnomAD
ARHGAP29	Q52LW3	p.Val902Ala	rs779871041	missense variant	-	NC_000001.11:g.94177943A>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp903Asn	rs769568575	missense variant	-	NC_000001.11:g.94177941C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gly905Asp	rs1301407688	missense variant	-	NC_000001.11:g.94177934C>T	TOPMed
ARHGAP29	Q52LW3	p.Cys906Phe	rs1281275968	missense variant	-	NC_000001.11:g.94177931C>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro908Ser	rs1205210565	missense variant	-	NC_000001.11:g.94177926G>A	TOPMed
ARHGAP29	Q52LW3	p.Lys909Thr	rs745647205	missense variant	-	NC_000001.11:g.94177922T>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser913Leu	rs139252732	missense variant	-	NC_000001.11:g.94177910G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro914Ala	rs751297503	missense variant	-	NC_000001.11:g.94177908G>C	ExAC
ARHGAP29	Q52LW3	p.Glu916Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94177902C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu916Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94177900T>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg917Ser	rs1374316799	missense variant	-	NC_000001.11:g.94177897T>G	gnomAD
ARHGAP29	Q52LW3	p.Asp918Glu	rs753188754	missense variant	-	NC_000001.11:g.94177894G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp918Val	rs777377988	missense variant	-	NC_000001.11:g.94177895T>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile919Ser	rs752105531	missense variant	-	NC_000001.11:g.94177892A>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile919Thr	rs752105531	missense variant	-	NC_000001.11:g.94177892A>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg921His	rs766858079	missense variant	-	NC_000001.11:g.94177886C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg921His	rs766858079	missense variant	-	NC_000001.11:g.94177886C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser922Phe	rs1455337423	missense variant	-	NC_000001.11:g.94177883G>A	TOPMed
ARHGAP29	Q52LW3	p.Met923Val	rs368000303	missense variant	-	NC_000001.11:g.94177881T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met923Thr	rs766774910	missense variant	-	NC_000001.11:g.94177880A>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys924Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94177877T>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ser925Ala	rs760851987	missense variant	-	NC_000001.11:g.94177875A>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser925Pro	rs760851987	missense variant	-	NC_000001.11:g.94177875A>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Phe927Tyr	rs531564843	missense variant	-	NC_000001.11:g.94177868A>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser930Ala	rs1239758814	missense variant	-	NC_000001.11:g.94177860A>C	gnomAD
ARHGAP29	Q52LW3	p.Ser930Leu	rs774558206	missense variant	-	NC_000001.11:g.94177859G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp933Asn	COSM25293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94177720C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asp933His	rs766684952	missense variant	-	NC_000001.11:g.94177720C>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile934Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94177716A>C	NCI-TCGA
ARHGAP29	Q52LW3	p.His935Arg	rs202125095	missense variant	-	NC_000001.11:g.94177713T>C	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr936Ala	rs750580170	missense variant	-	NC_000001.11:g.94177711T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu938Lys	rs1433930875	missense variant	-	NC_000001.11:g.94177705C>T	gnomAD
ARHGAP29	Q52LW3	p.Ser941Arg	rs1399390425	missense variant	-	NC_000001.11:g.94177694G>C	TOPMed
ARHGAP29	Q52LW3	p.Phe944Val	rs1293835571	missense variant	-	NC_000001.11:g.94177687A>C	TOPMed
ARHGAP29	Q52LW3	p.Arg946Ter	rs1165023731	stop gained	-	NC_000001.11:g.94177681G>A	gnomAD
ARHGAP29	Q52LW3	p.Arg946Gln	rs370625624	missense variant	-	NC_000001.11:g.94177680C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr948Ser	rs181149109	missense variant	-	NC_000001.11:g.94177675T>A	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr948Ala	rs181149109	missense variant	-	NC_000001.11:g.94177675T>C	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser949Leu	rs770792315	missense variant	-	NC_000001.11:g.94177671G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser953Ter	rs1485259006	stop gained	-	NC_000001.11:g.94177659G>C	TOPMed
ARHGAP29	Q52LW3	p.Arg955His	rs113546321	missense variant	-	NC_000001.11:g.94177653C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg955Cys	rs141790636	missense variant	-	NC_000001.11:g.94177654G>A	ESP,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg955His	rs113546321	missense variant	-	NC_000001.11:g.94177653C>T	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg955Cys	rs141790636	missense variant	-	NC_000001.11:g.94177654G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Gln957His	COSM913483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94177646T>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asn958His	rs773207285	missense variant	-	NC_000001.11:g.94177645T>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asn958Thr	rs771607170	missense variant	-	NC_000001.11:g.94177644T>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala959Thr	rs1229590925	missense variant	-	NC_000001.11:g.94177642C>T	gnomAD
ARHGAP29	Q52LW3	p.Ala959Glu	rs377417799	missense variant	-	NC_000001.11:g.94177641G>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala959Val	rs377417799	missense variant	-	NC_000001.11:g.94177641G>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala959Val	rs377417799	missense variant	-	NC_000001.11:g.94177641G>A	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gly961Glu	rs867918256	missense variant	-	NC_000001.11:g.94177635C>T	-
ARHGAP29	Q52LW3	p.Gly961Glu	rs867918256	missense variant	-	NC_000001.11:g.94177635C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Lys962Arg	rs373088208	missense variant	-	NC_000001.11:g.94177632T>C	ESP,TOPMed
ARHGAP29	Q52LW3	p.Lys962Asn	rs1372749446	missense variant	-	NC_000001.11:g.94177631T>G	gnomAD
ARHGAP29	Q52LW3	p.Cys963Arg	rs775205311	missense variant	-	NC_000001.11:g.94177630A>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala965Ser	rs780548274	missense variant	-	NC_000001.11:g.94177624C>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Cys966Arg	rs756683362	missense variant	-	NC_000001.11:g.94177621A>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser968Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94177615T>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Asp969Glu	rs374721703	missense variant	-	NC_000001.11:g.94174748G>C	ESP,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp969Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94177612C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ala971Gly	rs1262074770	missense variant	-	NC_000001.11:g.94174743G>C	gnomAD
ARHGAP29	Q52LW3	p.Ala971Val	rs1262074770	missense variant	-	NC_000001.11:g.94174743G>A	gnomAD
ARHGAP29	Q52LW3	p.Gln977Arg	rs1339409292	missense variant	-	NC_000001.11:g.94174725T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu978Asp	rs778060849	missense variant	-	NC_000001.11:g.94174721C>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu978Gln	rs1309933711	missense variant	-	NC_000001.11:g.94174723C>G	gnomAD
ARHGAP29	Q52LW3	p.Glu980Gly	COSM4010715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174716T>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu980Ter	rs758759180	stop gained	-	NC_000001.11:g.94174717C>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu980Val	rs752809915	missense variant	-	NC_000001.11:g.94174716T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser981Leu	rs372970494	missense variant	-	NC_000001.11:g.94174713G>A	ESP,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala982Ser	rs1387452233	missense variant	-	NC_000001.11:g.94174711C>A	gnomAD
ARHGAP29	Q52LW3	p.Ser983Tyr	rs1281112284	missense variant	-	NC_000001.11:g.94174707G>T	TOPMed
ARHGAP29	Q52LW3	p.Lys985Thr	rs760656559	missense variant	-	NC_000001.11:g.94174701T>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Lys985Thr	rs760656559	missense variant	-	NC_000001.11:g.94174701T>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Ile986Thr	rs142506942	missense variant	-	NC_000001.11:g.94174698A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile986Val	rs995072095	missense variant	-	NC_000001.11:g.94174699T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu987Gly	rs767164876	missense variant	-	NC_000001.11:g.94174695T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu987Val	rs767164876	missense variant	-	NC_000001.11:g.94174695T>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp988Tyr	rs139412088	missense variant	-	NC_000001.11:g.94174693C>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly989Ser	rs780581966	missense variant	-	NC_000001.11:g.94174690C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly989Asp	rs762644073	missense variant	-	NC_000001.11:g.94174689C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly989Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174690C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Thr991Ala	rs774950084	missense variant	-	NC_000001.11:g.94174684T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro992Ser	rs1205409209	missense variant	-	NC_000001.11:g.94174681G>A	gnomAD
ARHGAP29	Q52LW3	p.Pro992Leu	rs939273469	missense variant	-	NC_000001.11:g.94174680G>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro994Leu	rs1480272290	missense variant	-	NC_000001.11:g.94174674G>A	TOPMed
ARHGAP29	Q52LW3	p.Pro994Ser	rs1270802769	missense variant	-	NC_000001.11:g.94174675G>A	gnomAD
ARHGAP29	Q52LW3	p.Pro994Ser	rs1270802769	missense variant	-	NC_000001.11:g.94174675G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ser996Phe	rs1301837366	missense variant	-	NC_000001.11:g.94174668G>A	gnomAD
ARHGAP29	Q52LW3	p.Ser996Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174668G>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Asp1000Asn	COSM4901403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174657C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg1001Ser	rs1234147971	missense variant	-	NC_000001.11:g.94174652C>A	gnomAD
ARHGAP29	Q52LW3	p.Thr1003Ala	rs376576743	missense variant	-	NC_000001.11:g.94174648T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr1003Ser	rs376576743	missense variant	-	NC_000001.11:g.94174648T>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn1004Asp	rs777206745	missense variant	-	NC_000001.11:g.94174645T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn1005Ser	rs540284512	missense variant	-	NC_000001.11:g.94174641T>C	1000Genomes
ARHGAP29	Q52LW3	p.Val1006Ala	rs902221557	missense variant	-	NC_000001.11:g.94174638A>G	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu1007Lys	rs371897710	missense variant	-	NC_000001.11:g.94174636C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg1008Lys	rs140638899	missense variant	-	NC_000001.11:g.94174632C>T	NCI-TCGA,NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg1008Lys	rs140638899	missense variant	-	NC_000001.11:g.94174632C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr1010Ser	rs1386488730	missense variant	-	NC_000001.11:g.94174627T>A	gnomAD
ARHGAP29	Q52LW3	p.Pro1011Ser	rs778056394	missense variant	-	NC_000001.11:g.94174624G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg1012Lys	COSM3493526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174620C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Thr1013Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174617G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Lys1014Met	rs915174947	missense variant	-	NC_000001.11:g.94174614T>A	TOPMed
ARHGAP29	Q52LW3	p.Ile1015Phe	rs748416865	missense variant	-	NC_000001.11:g.94174612T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile1015Met	rs779093680	missense variant	-	NC_000001.11:g.94174610A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Val1018Ile	rs557659137	missense variant	-	NC_000001.11:g.94174603C>T	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser1019Asn	rs750263751	missense variant	-	NC_000001.11:g.94174599C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser1019Arg	rs1193631650	missense variant	-	NC_000001.11:g.94174600T>G	gnomAD
ARHGAP29	Q52LW3	p.Leu1020Phe	rs757203533	missense variant	-	NC_000001.11:g.94174595C>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Val1022Ile	rs763917886	missense variant	-	NC_000001.11:g.94174591C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val1022Leu	rs763917886	missense variant	-	NC_000001.11:g.94174591C>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg1024Gly	rs1468565937	missense variant	-	NC_000001.11:g.94174585T>C	gnomAD
ARHGAP29	Q52LW3	p.Leu1025Pro	rs762553075	missense variant	-	NC_000001.11:g.94174581A>G	ExAC
ARHGAP29	Q52LW3	p.Leu1027Phe	rs1225366339	missense variant	-	NC_000001.11:g.94174576G>A	TOPMed
ARHGAP29	Q52LW3	p.Ala1028Pro	rs374087471	missense variant	-	NC_000001.11:g.94174573C>G	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala1028Thr	rs374087471	missense variant	-	NC_000001.11:g.94174573C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro1031Ser	rs1342078130	missense variant	-	NC_000001.11:g.94174564G>A	gnomAD
ARHGAP29	Q52LW3	p.Glu1033Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174558C>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg1034Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174554C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg1037Thr	rs1264168129	missense variant	-	NC_000001.11:g.94174545C>G	TOPMed
ARHGAP29	Q52LW3	p.Asn1038Ser	rs1232917614	missense variant	-	NC_000001.11:g.94174542T>C	gnomAD
ARHGAP29	Q52LW3	p.Met1039Thr	rs575135282	missense variant	-	NC_000001.11:g.94174539A>G	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly1040Arg	COSM3493525	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174537C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asn1043Asp	rs1328124807	missense variant	-	NC_000001.11:g.94174528T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu1044Val	rs771456059	missense variant	-	NC_000001.11:g.94174525A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp1045His	rs747518741	missense variant	-	NC_000001.11:g.94174522C>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys1046Arg	rs773677855	missense variant	-	NC_000001.11:g.94174518T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys1049Asn	COSM682643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174508C>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asn1050Ile	rs1161607972	missense variant	-	NC_000001.11:g.94174506T>A	TOPMed
ARHGAP29	Q52LW3	p.Pro1051Thr	rs772591803	missense variant	-	NC_000001.11:g.94174504G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Pro1051Ser	rs772591803	missense variant	-	NC_000001.11:g.94174504G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Val1056Phe	rs368898771	missense variant	-	NC_000001.11:g.94174489C>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val1056Ile	rs368898771	missense variant	-	NC_000001.11:g.94174489C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn1057Ile	rs755321039	missense variant	-	NC_000001.11:g.94174485T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asn1057Asp	rs779287904	missense variant	-	NC_000001.11:g.94174486T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg1058Lys	rs1392998839	missense variant	-	NC_000001.11:g.94174482C>T	gnomAD
ARHGAP29	Q52LW3	p.Asp1060Tyr	COSM3806164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174477C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asp1060Gly	rs749375661	missense variant	-	NC_000001.11:g.94174476T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala1061Val	rs751482923	missense variant	-	NC_000001.11:g.94174473G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala1061Ser	rs141653334	missense variant	-	NC_000001.11:g.94174474C>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala1061Thr	rs141653334	missense variant	-	NC_000001.11:g.94174474C>T	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala1061Thr	RCV000203045	missense variant	-	NC_000001.11:g.94174474C>T	ClinVar
ARHGAP29	Q52LW3	p.Thr1063Ala	rs149534929	missense variant	-	NC_000001.11:g.94174468T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr1064Ala	rs758203668	missense variant	-	NC_000001.11:g.94174465T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Val1065Leu	rs1454616391	missense variant	-	NC_000001.11:g.94174462C>G	gnomAD
ARHGAP29	Q52LW3	p.Cys1066Phe	rs138109111	missense variant	-	NC_000001.11:g.94174458C>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys1068Arg	rs765843133	missense variant	-	NC_000001.11:g.94174452T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys1068Thr	rs765843133	missense variant	-	NC_000001.11:g.94174452T>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly1071Val	rs761200097	missense variant	-	NC_000001.11:g.94174443C>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp1073Gly	rs750287257	missense variant	-	NC_000001.11:g.94174437T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu1077Pro	rs765229411	missense variant	-	NC_000001.11:g.94174425A>G	gnomAD
ARHGAP29	Q52LW3	p.Gln1078Arg	rs1373411735	missense variant	-	NC_000001.11:g.94174422T>C	gnomAD
ARHGAP29	Q52LW3	p.Lys1079Glu	rs374847892	missense variant	-	NC_000001.11:g.94174420T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln1081Arg	rs1420209185	missense variant	-	NC_000001.11:g.94174413T>C	TOPMed
ARHGAP29	Q52LW3	p.Asp1082Val	rs768904468	missense variant	-	NC_000001.11:g.94174410T>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp1082Gly	rs768904468	missense variant	-	NC_000001.11:g.94174410T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys1083Arg	rs749516788	missense variant	-	NC_000001.11:g.94174407T>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln1084Glu	COSM3419600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174405G>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Tyr1085Asp	rs769786846	missense variant	-	NC_000001.11:g.94174402A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Tyr1085Phe	rs902250842	missense variant	-	NC_000001.11:g.94174401T>A	TOPMed
ARHGAP29	Q52LW3	p.Gln1087Arg	rs370754867	missense variant	-	NC_000001.11:g.94174395T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln1087Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174396G>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu1090Pro	COSM3985326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174386A>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Leu1090Val	rs777693204	missense variant	-	NC_000001.11:g.94174387G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr1095Ala	rs1031088081	missense variant	-	NC_000001.11:g.94174372T>C	gnomAD
ARHGAP29	Q52LW3	p.Met1096Val	rs752474144	missense variant	-	NC_000001.11:g.94174369T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile1097Val	rs778728466	missense variant	-	NC_000001.11:g.94174366T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met1098Ile	rs754627456	missense variant	-	NC_000001.11:g.94174361C>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser1100Arg	rs1283617034	missense variant	-	NC_000001.11:g.94174355A>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser1100Gly	rs753460434	missense variant	-	NC_000001.11:g.94174357T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala1101Thr	rs765861631	missense variant	-	NC_000001.11:g.94174354C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln1103His	rs1353483067	missense variant	-	NC_000001.11:g.94174346C>A	gnomAD
ARHGAP29	Q52LW3	p.Glu1104Asp	rs750890180	missense variant	-	NC_000001.11:g.94174343T>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu1104Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174345C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Gly1106Arg	rs768127300	missense variant	-	NC_000001.11:g.94174339C>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly1106Arg	rs768127300	missense variant	-	NC_000001.11:g.94174339C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Thr1109Arg	rs774830651	missense variant	-	NC_000001.11:g.94174329G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr1109Lys	rs774830651	missense variant	-	NC_000001.11:g.94174329G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser1110Arg	rs1408087253	missense variant	-	NC_000001.11:g.94174325G>T	gnomAD
ARHGAP29	Q52LW3	p.Ser1110Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174327T>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Leu1111Phe	rs1162055095	missense variant	-	NC_000001.11:g.94174324G>A	gnomAD
ARHGAP29	Q52LW3	p.Gln1112Glu	rs1474549861	missense variant	-	NC_000001.11:g.94174321G>C	gnomAD
ARHGAP29	Q52LW3	p.Ile1113Met	rs763186439	missense variant	-	NC_000001.11:g.94174316A>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser1114Thr	rs1278927711	missense variant	-	NC_000001.11:g.94174314C>G	gnomAD
ARHGAP29	Q52LW3	p.Ser1114Arg	rs1462799940	missense variant	-	NC_000001.11:g.94174313A>T	TOPMed
ARHGAP29	Q52LW3	p.Ser1114Arg	rs1264025996	missense variant	-	NC_000001.11:g.94174315T>G	TOPMed
ARHGAP29	Q52LW3	p.Gly1115Arg	rs775591069	missense variant	-	NC_000001.11:g.94174312C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ile1119Asn	rs1303951915	missense variant	-	NC_000001.11:g.94174299A>T	gnomAD
ARHGAP29	Q52LW3	p.Ile1119Val	rs149005277	missense variant	-	NC_000001.11:g.94174300T>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asn1120Ser	rs1218232662	missense variant	-	NC_000001.11:g.94174296T>C	gnomAD
ARHGAP29	Q52LW3	p.Ala1121Gly	rs781304449	missense variant	-	NC_000001.11:g.94174293G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Thr1122Ile	rs771974492	missense variant	-	NC_000001.11:g.94174290G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln1123Ter	rs1178887827	stop gained	-	NC_000001.11:g.94174288G>A	TOPMed
ARHGAP29	Q52LW3	p.Lys1126Thr	rs778725286	missense variant	-	NC_000001.11:g.94174278T>G	ExAC
ARHGAP29	Q52LW3	p.Tyr1128His	rs1295018801	missense variant	-	NC_000001.11:g.94174273A>G	gnomAD
ARHGAP29	Q52LW3	p.Pro1131Ser	rs753908262	missense variant	-	NC_000001.11:g.94174264G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu1137Lys	COSM3493524	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174246C>T	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu1137Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174244C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu1137Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.94174246C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Ala1138Ser	rs890306926	missense variant	-	NC_000001.11:g.94174243C>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala1138Pro	rs890306926	missense variant	-	NC_000001.11:g.94174243C>G	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala1138Glu	rs753470857	missense variant	-	NC_000001.11:g.94174242G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala1138Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174242G>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Ser1139Phe	rs755891699	missense variant	-	NC_000001.11:g.94174239G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ser1139Thr	rs779574171	missense variant	-	NC_000001.11:g.94174240A>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Glu1140Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174237C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg1141Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174234T>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg1142Leu	COSM6127809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174230C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Arg1142Gln	rs767180219	missense variant	-	NC_000001.11:g.94174230C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg1142Pro	rs767180219	missense variant	-	NC_000001.11:g.94174230C>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg1142Trp	rs749933468	missense variant	-	NC_000001.11:g.94174231G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser1144Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174224G>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Asp1145Tyr	COSM913481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174222C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Tyr1147Cys	rs1420698561	missense variant	-	NC_000001.11:g.94174215T>C	gnomAD
ARHGAP29	Q52LW3	p.Pro1148Ser	rs762374064	missense variant	-	NC_000001.11:g.94174213G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala1150Ser	rs149136237	missense variant	-	NC_000001.11:g.94174207C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala1150Thr	rs149136237	missense variant	-	NC_000001.11:g.94174207C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg1153Lys	rs775991390	missense variant	-	NC_000001.11:g.94174197C>T	ExAC
ARHGAP29	Q52LW3	p.Ala1154Thr	rs765362990	missense variant	-	NC_000001.11:g.94174195C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala1154Val	rs547690695	missense variant	-	NC_000001.11:g.94174194G>A	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro1155His	rs776660844	missense variant	-	NC_000001.11:g.94174191G>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro1155Thr	rs759801346	missense variant	-	NC_000001.11:g.94174192G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Arg1156Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174188C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Thr1157Ala	rs1273836863	missense variant	-	NC_000001.11:g.94174186T>C	gnomAD
ARHGAP29	Q52LW3	p.Pro1160Leu	rs771029896	missense variant	-	NC_000001.11:g.94174176G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.His1162Gln	rs1306779906	missense variant	-	NC_000001.11:g.94174169A>T	gnomAD
ARHGAP29	Q52LW3	p.His1162Arg	rs760872144	missense variant	-	NC_000001.11:g.94174170T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Trp1163Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.94174167C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Thr1164Ala	rs1293257219	missense variant	-	NC_000001.11:g.94174165T>C	gnomAD
ARHGAP29	Q52LW3	p.Thr1164Ile	rs1216092550	missense variant	-	NC_000001.11:g.94174164G>A	gnomAD
ARHGAP29	Q52LW3	p.Thr1165Ile	rs190842488	missense variant	-	NC_000001.11:g.94174161G>A	1000Genomes,gnomAD
ARHGAP29	Q52LW3	p.His1170Tyr	rs375250590	missense variant	-	NC_000001.11:g.94174147G>A	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ala1171Thr	rs749029424	missense variant	-	NC_000001.11:g.94174144C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala1171Pro	rs749029424	missense variant	-	NC_000001.11:g.94174144C>G	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Pro1172Ala	rs960301749	missense variant	-	NC_000001.11:g.94174141G>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ile1173Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174137A>C	NCI-TCGA
ARHGAP29	Q52LW3	p.Ile1174Val	rs1353258829	missense variant	-	NC_000001.11:g.94174135T>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser1175Asn	rs1480253906	missense variant	-	NC_000001.11:g.94174131C>T	TOPMed
ARHGAP29	Q52LW3	p.Arg1177Ser	rs779950205	missense variant	-	NC_000001.11:g.94174124C>G	ExAC
ARHGAP29	Q52LW3	p.Gly1178Ala	rs1429452415	missense variant	-	NC_000001.11:g.94174122C>G	gnomAD
ARHGAP29	Q52LW3	p.Asn1179Asp	COSM4758936	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174120T>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asn1179His	rs142634198	missense variant	-	NC_000001.11:g.94174120T>G	ESP,ExAC
ARHGAP29	Q52LW3	p.Asn1179Ser	rs1156732552	missense variant	-	NC_000001.11:g.94174119T>C	gnomAD
ARHGAP29	Q52LW3	p.Glu1180Lys	rs1394815383	missense variant	-	NC_000001.11:g.94174117C>T	gnomAD
ARHGAP29	Q52LW3	p.Pro1183Thr	rs745550137	missense variant	-	NC_000001.11:g.94174108G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala1184Thr	rs1431147574	missense variant	-	NC_000001.11:g.94174105C>T	TOPMed
ARHGAP29	Q52LW3	p.Pro1186Thr	rs1455700803	missense variant	-	NC_000001.11:g.94174099G>T	gnomAD
ARHGAP29	Q52LW3	p.Pro1186Leu	rs780804450	missense variant	-	NC_000001.11:g.94174098G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala1189Val	rs1480300156	missense variant	-	NC_000001.11:g.94174089G>A	gnomAD
ARHGAP29	Q52LW3	p.Val1190Met	rs1206407142	missense variant	-	NC_000001.11:g.94174087C>T	gnomAD
ARHGAP29	Q52LW3	p.Pro1192Ser	rs1302346358	missense variant	-	NC_000001.11:g.94174081G>A	gnomAD
ARHGAP29	Q52LW3	p.Pro1192Leu	rs11165091	missense variant	-	NC_000001.11:g.94174080G>A	gnomAD
ARHGAP29	Q52LW3	p.Gly1193Val	COSM294133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174077C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Thr1194Ala	rs532055279	missense variant	-	NC_000001.11:g.94174075T>C	1000Genomes,ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp1195Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94174072C>T	NCI-TCGA
ARHGAP29	Q52LW3	p.His1196Asp	rs759000529	missense variant	-	NC_000001.11:g.94174069G>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Leu1201Pro	rs759713700	missense variant	-	NC_000001.11:g.94174053A>G	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val1202Leu	rs144585524	missense variant	-	NC_000001.11:g.94174051C>A	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val1202Met	rs144585524	missense variant	-	NC_000001.11:g.94174051C>T	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val1203Met	rs1010627894	missense variant	-	NC_000001.11:g.94174048C>T	TOPMed
ARHGAP29	Q52LW3	p.Met1206Val	rs201618253	missense variant	-	NC_000001.11:g.94174039T>C	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met1206Leu	rs201618253	missense variant	-	NC_000001.11:g.94174039T>A	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp1208Ala	COSM3866276	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174032T>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Asp1208Asn	rs775110620	missense variant	-	NC_000001.11:g.94174033C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Pro1209Ser	rs769738640	missense variant	-	NC_000001.11:g.94174030G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Pro1209Arg	rs745460571	missense variant	-	NC_000001.11:g.94174029G>C	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Asp1210Glu	rs780996785	missense variant	-	NC_000001.11:g.94174025G>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Lys1211Glu	COSM3493523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94174024T>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ala1212Thr	rs757039277	missense variant	-	NC_000001.11:g.94174021C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Ala1212Glu	rs746489015	missense variant	-	NC_000001.11:g.94174020G>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser1213Ala	rs777389940	missense variant	-	NC_000001.11:g.94174018A>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Ser1213Leu	rs1237831137	missense variant	-	NC_000001.11:g.94174017G>A	gnomAD
ARHGAP29	Q52LW3	p.Cys1215Tyr	rs758799135	missense variant	-	NC_000001.11:g.94174011C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro1216Ser	rs765536759	missense variant	-	NC_000001.11:g.94174009G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln1218Lys	rs753990016	missense variant	-	NC_000001.11:g.94174003G>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gly1221Arg	rs1198371008	missense variant	-	NC_000001.11:g.94173994C>G	TOPMed
ARHGAP29	Q52LW3	p.Pro1223Leu	rs1416983557	missense variant	-	NC_000001.11:g.94173987G>A	gnomAD
ARHGAP29	Q52LW3	p.Glu1225Ter	COSM3419599	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.94173982C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu1225Gly	rs1158238771	missense variant	-	NC_000001.11:g.94173981T>C	gnomAD
ARHGAP29	Q52LW3	p.Asp1226Tyr	COSM426864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173979C>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Ser1227Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94173976A>T	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu1228Gln	COSM3806163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173973C>G	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Glu1228Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94173971C>A	NCI-TCGA
ARHGAP29	Q52LW3	p.Glu1229Lys	rs1451830555	missense variant	-	NC_000001.11:g.94173970C>T	gnomAD
ARHGAP29	Q52LW3	p.Pro1233Ala	COSM6064495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173958G>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Pro1233Ser	rs1165709629	missense variant	-	NC_000001.11:g.94173958G>A	TOPMed
ARHGAP29	Q52LW3	p.Pro1233Arg	rs1483897043	missense variant	-	NC_000001.11:g.94173957G>C	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp1234Tyr	rs1159924960	missense variant	-	NC_000001.11:g.94173955C>A	gnomAD
ARHGAP29	Q52LW3	p.Asp1234Gly	rs761013727	missense variant	-	NC_000001.11:g.94173954T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Asp1234Asn	rs1159924960	missense variant	-	NC_000001.11:g.94173955C>T	gnomAD
ARHGAP29	Q52LW3	p.Met1238Leu	rs529456105	missense variant	-	NC_000001.11:g.94173943T>G	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Met1238Val	rs529456105	missense variant	-	NC_000001.11:g.94173943T>C	1000Genomes,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln1240His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.94173935C>G	NCI-TCGA
ARHGAP29	Q52LW3	p.Arg1243Gly	rs1256534528	missense variant	-	NC_000001.11:g.94173928T>C	gnomAD
ARHGAP29	Q52LW3	p.Arg1246Gly	rs762753584	missense variant	-	NC_000001.11:g.94173919G>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg1246Leu	rs769645920	missense variant	-	NC_000001.11:g.94173918C>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg1246Gln	rs769645920	missense variant	-	NC_000001.11:g.94173918C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Arg1246Ter	rs762753584	stop gained	-	NC_000001.11:g.94173919G>A	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gln1248His	rs759401331	missense variant	-	NC_000001.11:g.94173911T>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gln1249Ter	rs776627518	stop gained	-	NC_000001.11:g.94173910G>A	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Phe1250Leu	rs1291940231	missense variant	-	NC_000001.11:g.94173905A>C	gnomAD
ARHGAP29	Q52LW3	p.Glu1251Asp	rs199687794	missense variant	-	NC_000001.11:g.94173902T>G	1000Genomes,ExAC
ARHGAP29	Q52LW3	p.Glu1254Gly	rs759862562	missense variant	-	NC_000001.11:g.94173894T>C	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu1254Lys	rs772383920	missense variant	-	NC_000001.11:g.94173895C>T	ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Gly1255Ser	rs748541171	missense variant	-	NC_000001.11:g.94173892C>T	ExAC,gnomAD
ARHGAP29	Q52LW3	p.Gly1255Asp	rs1999272	missense variant	-	NC_000001.11:g.94173891C>T	UniProt,dbSNP
ARHGAP29	Q52LW3	p.Gly1255Asp	VAR_038553	missense variant	-	NC_000001.11:g.94173891C>T	UniProt
ARHGAP29	Q52LW3	p.Gly1255Asp	rs1999272	missense variant	-	NC_000001.11:g.94173891C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Glu1256Lys	rs1460959315	missense variant	-	NC_000001.11:g.94173889C>T	TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Pro1258Ser	COSM5526873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173883G>A	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gln1259Arg	COSM4010714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.94173879T>C	NCI-TCGA Cosmic
ARHGAP29	Q52LW3	p.Gln1259Pro	rs1230470644	missense variant	-	NC_000001.11:g.94173879T>G	gnomAD
ARHGAP29	Q52LW3	p.Gln1259Ter	rs1415719702	stop gained	-	NC_000001.11:g.94173880G>A	gnomAD
ARHGAP29	Q52LW3	p.Phe1260Val	rs372477728	missense variant	-	NC_000001.11:g.94173877A>C	ESP,ExAC,TOPMed,gnomAD
ARHGAP29	Q52LW3	p.Val1261CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.94173874_94173875insA	NCI-TCGA
TAF1B	Q53T94	p.Asp2Glu	rs1202169395	missense variant	-	NC_000002.12:g.9843547C>A	gnomAD
TAF1B	Q53T94	p.Leu3Val	rs770155197	missense variant	-	NC_000002.12:g.9843548C>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Leu3Ile	rs770155197	missense variant	-	NC_000002.12:g.9843548C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu4Asp	rs763266367	missense variant	-	NC_000002.12:g.9843553G>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu5Lys	rs1443495524	missense variant	-	NC_000002.12:g.9843554G>A	gnomAD
TAF1B	Q53T94	p.Glu5Ter	rs1443495524	stop gained	-	NC_000002.12:g.9843554G>T	gnomAD
TAF1B	Q53T94	p.Ala6Gly	rs17856563	missense variant	-	NC_000002.12:g.9843558C>G	gnomAD
TAF1B	Q53T94	p.Ala6Ser	rs2303914	missense variant	-	NC_000002.12:g.9843557G>T	UniProt,dbSNP
TAF1B	Q53T94	p.Ala6Ser	VAR_029378	missense variant	-	NC_000002.12:g.9843557G>T	UniProt
TAF1B	Q53T94	p.Ala6Ser	rs2303914	missense variant	-	NC_000002.12:g.9843557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ala6Val	rs17856563	missense variant	-	NC_000002.12:g.9843558C>T	gnomAD
TAF1B	Q53T94	p.Ala6Thr	rs2303914	missense variant	-	NC_000002.12:g.9843557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys10Gln	rs1183084559	missense variant	-	NC_000002.12:g.9845229A>C	gnomAD
TAF1B	Q53T94	p.Arg12Ser	rs750356942	missense variant	-	NC_000002.12:g.9845235C>A	ExAC,gnomAD
TAF1B	Q53T94	p.Arg12Cys	rs750356942	missense variant	-	NC_000002.12:g.9845235C>T	ExAC,gnomAD
TAF1B	Q53T94	p.Arg12His	rs762718516	missense variant	-	NC_000002.12:g.9845236G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr14Ala	rs751180434	missense variant	-	NC_000002.12:g.9845241A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Gly22Arg	rs755597362	missense variant	-	NC_000002.12:g.9845265G>C	ExAC,gnomAD
TAF1B	Q53T94	p.Gly22Cys	rs755597362	missense variant	-	NC_000002.12:g.9845265G>T	ExAC,gnomAD
TAF1B	Q53T94	p.Glu26Gly	rs1241071153	missense variant	-	NC_000002.12:g.9845278A>G	gnomAD
TAF1B	Q53T94	p.Tyr29His	rs142457164	missense variant	-	NC_000002.12:g.9845286T>C	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr32Ser	rs901902088	missense variant	-	NC_000002.12:g.9845295A>T	TOPMed
TAF1B	Q53T94	p.Thr32Ile	rs369560244	missense variant	-	NC_000002.12:g.9845296C>T	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser33Phe	rs997625329	missense variant	-	NC_000002.12:g.9845299C>T	TOPMed,gnomAD
TAF1B	Q53T94	p.Asn36Ser	rs374218229	missense variant	-	NC_000002.12:g.9845308A>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val37Leu	rs779280070	missense variant	-	NC_000002.12:g.9845310G>C	ExAC,gnomAD
TAF1B	Q53T94	p.Thr38Ile	rs180788351	missense variant	-	NC_000002.12:g.9845314C>T	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu39Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9845316G>A	NCI-TCGA
TAF1B	Q53T94	p.Tyr41Cys	rs760318770	missense variant	-	NC_000002.12:g.9849377A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Glu43Ter	rs1317822594	stop gained	-	NC_000002.12:g.9849382G>T	gnomAD
TAF1B	Q53T94	p.Glu43Asp	rs763535571	missense variant	-	NC_000002.12:g.9849384A>C	ExAC,gnomAD
TAF1B	Q53T94	p.Thr45Ala	rs753350535	missense variant	-	NC_000002.12:g.9849388A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Thr47Ala	rs756692362	missense variant	-	NC_000002.12:g.9849394A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Thr47Asn	rs1223175162	missense variant	-	NC_000002.12:g.9849395C>A	gnomAD
TAF1B	Q53T94	p.Asp48Asn	rs765896725	missense variant	-	NC_000002.12:g.9849397G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Pro51Leu	rs1371430794	missense variant	-	NC_000002.12:g.9849407C>T	TOPMed
TAF1B	Q53T94	p.Asn52His	rs377410792	missense variant	-	NC_000002.12:g.9849409A>C	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Gln54Lys	rs1180950394	missense variant	-	NC_000002.12:g.9849415C>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Ile55Val	rs1420550441	missense variant	-	NC_000002.12:g.9849418A>G	gnomAD
TAF1B	Q53T94	p.Lys56Gln	COSM4818437	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9849421A>C	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Asn59Thr	rs1324481726	missense variant	-	NC_000002.12:g.9849431A>C	TOPMed
TAF1B	Q53T94	p.Arg60Gln	rs375082859	missense variant	-	NC_000002.12:g.9849434G>A	ESP,ExAC,gnomAD
TAF1B	Q53T94	p.Leu62Phe	rs1367774974	missense variant	-	NC_000002.12:g.9849439C>T	gnomAD
TAF1B	Q53T94	p.Lys65Arg	rs539544418	missense variant	-	NC_000002.12:g.9849449A>G	1000Genomes,gnomAD
TAF1B	Q53T94	p.Asn66Ser	rs755182647	missense variant	-	NC_000002.12:g.9849452A>G	ExAC
TAF1B	Q53T94	p.Asn66Thr	rs755182647	missense variant	-	NC_000002.12:g.9849452A>C	ExAC
TAF1B	Q53T94	p.Asn66Lys	rs368500459	missense variant	-	NC_000002.12:g.9849453C>G	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asn66Lys	rs368500459	missense variant	-	NC_000002.12:g.9849453C>A	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr68Ala	rs1005901185	missense variant	-	NC_000002.12:g.9849457A>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Glu69Lys	rs553152964	missense variant	-	NC_000002.12:g.9849460G>A	1000Genomes,ExAC,gnomAD
TAF1B	Q53T94	p.Lys70Arg	rs1164484630	missense variant	-	NC_000002.12:g.9851544A>G	gnomAD
TAF1B	Q53T94	p.Gly71Asp	rs1179115640	missense variant	-	NC_000002.12:g.9851547G>A	TOPMed
TAF1B	Q53T94	p.Trp72Ter	rs761447111	stop gained	-	NC_000002.12:g.9851551G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Trp72Arg	rs1467873336	missense variant	-	NC_000002.12:g.9851549T>C	TOPMed
TAF1B	Q53T94	p.Asp73Asn	rs1296669877	missense variant	-	NC_000002.12:g.9851552G>A	gnomAD
TAF1B	Q53T94	p.Trp74Ter	rs1399924195	stop gained	-	NC_000002.12:g.9851557G>A	gnomAD
TAF1B	Q53T94	p.TyrValCysGlu75TyrValTerUnk	rs778382213	stop gained	-	NC_000002.12:g.9851566_9851567del	ExAC,gnomAD
TAF1B	Q53T94	p.Cys77Tyr	rs764838666	missense variant	-	NC_000002.12:g.9851565G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Cys77Phe	rs764838666	missense variant	-	NC_000002.12:g.9851565G>T	ExAC,gnomAD
TAF1B	Q53T94	p.Glu78Lys	COSM722710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9851567G>A	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Phe80Cys	rs758923216	missense variant	-	NC_000002.12:g.9851574T>G	ExAC,gnomAD
TAF1B	Q53T94	p.Gln81Arg	rs766877817	missense variant	-	NC_000002.12:g.9851577A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Gln81Ter	COSM3584376	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9851576C>T	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Tyr82Cys	rs751991801	missense variant	-	NC_000002.12:g.9851580A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Leu84Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9851585C>T	NCI-TCGA
TAF1B	Q53T94	p.Tyr85Cys	rs1324726548	missense variant	-	NC_000002.12:g.9851589A>G	gnomAD
TAF1B	Q53T94	p.Gln86Arg	rs1250412117	missense variant	-	NC_000002.12:g.9851592A>G	gnomAD
TAF1B	Q53T94	p.Gln86Glu	rs755273405	missense variant	-	NC_000002.12:g.9851591C>G	ExAC,gnomAD
TAF1B	Q53T94	p.Glu89Asp	rs1461537823	missense variant	-	NC_000002.12:g.9851602A>T	gnomAD
TAF1B	Q53T94	p.Leu91Ter	rs781532765	stop gained	-	NC_000002.12:g.9851607T>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys92Asn	COSM722709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9851611G>C	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Lys92Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9851611G>T	NCI-TCGA
TAF1B	Q53T94	p.Asn93Lys	rs748312273	missense variant	-	NC_000002.12:g.9851614C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Leu94His	rs777772609	missense variant	-	NC_000002.12:g.9851616T>A	ExAC,gnomAD
TAF1B	Q53T94	p.Gly95Glu	rs771958098	missense variant	-	NC_000002.12:g.9851619G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Val96Ile	rs779936896	missense variant	-	NC_000002.12:g.9851621G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Asp103Asn	rs764349893	missense variant	-	NC_000002.12:g.9854329G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asp103Tyr	rs764349893	missense variant	-	NC_000002.12:g.9854329G>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.His106Arg	rs745454778	missense variant	-	NC_000002.12:g.9854339A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Asn107Asp	rs889054404	missense variant	-	NC_000002.12:g.9854341A>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Trp109Ter	rs778794346	stop gained	-	NC_000002.12:g.9854349G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Arg111His	rs754826734	missense variant	-	NC_000002.12:g.9854354G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Arg111Cys	rs751531546	missense variant	-	NC_000002.12:g.9854353C>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Tyr112Asn	rs1410125114	missense variant	-	NC_000002.12:g.9854356T>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Tyr112Cys	rs1330479671	missense variant	-	NC_000002.12:g.9854357A>G	gnomAD
TAF1B	Q53T94	p.Leu113Phe	rs781149015	missense variant	-	NC_000002.12:g.9854359C>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys115Asn	rs748001884	missense variant	-	NC_000002.12:g.9854367G>C	ExAC,gnomAD
TAF1B	Q53T94	p.Lys117Glu	rs1384146273	missense variant	-	NC_000002.12:g.9854371A>G	gnomAD
TAF1B	Q53T94	p.Ala119Thr	rs867453438	missense variant	-	NC_000002.12:g.9854377G>A	gnomAD
TAF1B	Q53T94	p.Pro124Ala	rs1356111778	missense variant	-	NC_000002.12:g.9854392C>G	gnomAD
TAF1B	Q53T94	p.Thr127Asn	rs370063775	missense variant	-	NC_000002.12:g.9854402C>A	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr127Ile	rs370063775	missense variant	-	NC_000002.12:g.9854402C>T	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr128Ala	rs547652861	missense variant	-	NC_000002.12:g.9854404A>G	1000Genomes,ExAC,gnomAD
TAF1B	Q53T94	p.Thr133Met	rs773684817	missense variant	-	NC_000002.12:g.9854420C>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu136Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9868282G>A	NCI-TCGA
TAF1B	Q53T94	p.Ser140Gly	rs1462713261	missense variant	-	NC_000002.12:g.9868294A>G	gnomAD
TAF1B	Q53T94	p.His141Gln	rs752674845	missense variant	-	NC_000002.12:g.9868299T>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser142Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.9868301C>G	NCI-TCGA
TAF1B	Q53T94	p.Ala145Asp	rs374272943	missense variant	-	NC_000002.12:g.9868310C>A	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser146Gly	rs1195024752	missense variant	-	NC_000002.12:g.9868312A>G	gnomAD
TAF1B	Q53T94	p.Ser146Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9868313G>C	NCI-TCGA
TAF1B	Q53T94	p.Pro148Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9868318C>T	NCI-TCGA
TAF1B	Q53T94	p.Pro148Thr	rs368173816	missense variant	-	NC_000002.12:g.9868318C>A	ESP
TAF1B	Q53T94	p.Glu149Lys	COSM1305452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9868321G>A	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Glu149Val	rs372393191	missense variant	-	NC_000002.12:g.9868322A>T	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser152Asn	rs1430713661	missense variant	-	NC_000002.12:g.9868331G>A	gnomAD
TAF1B	Q53T94	p.Val154Ile	rs771599303	missense variant	-	NC_000002.12:g.9868336G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Ser155Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9868341C>A	NCI-TCGA
TAF1B	Q53T94	p.Cys156Tyr	rs1400495779	missense variant	-	NC_000002.12:g.9868343G>A	TOPMed
TAF1B	Q53T94	p.Pro157Leu	rs776045935	missense variant	-	NC_000002.12:g.9868346C>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Pro157His	rs776045935	missense variant	-	NC_000002.12:g.9868346C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Pro158Ala	rs747452457	missense variant	-	NC_000002.12:g.9868348C>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Phe159Leu	rs899819040	missense variant	-	NC_000002.12:g.9868351T>C	TOPMed
TAF1B	Q53T94	p.Leu160Phe	COSM440883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9868354C>T	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Ala164Val	rs377190633	missense variant	-	NC_000002.12:g.9868367C>T	NCI-TCGA,NCI-TCGA Cosmic
TAF1B	Q53T94	p.Ala164Thr	rs1346285876	missense variant	-	NC_000002.12:g.9868366G>A	gnomAD
TAF1B	Q53T94	p.Ala164Val	rs377190633	missense variant	-	NC_000002.12:g.9868367C>T	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ala164Gly	rs377190633	missense variant	-	NC_000002.12:g.9868367C>G	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser166Tyr	rs1399559523	missense variant	-	NC_000002.12:g.9868373C>A	gnomAD
TAF1B	Q53T94	p.Asp169Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9868381G>A	NCI-TCGA
TAF1B	Q53T94	p.Ile170Thr	rs765423153	missense variant	-	NC_000002.12:g.9868385T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Ile170Val	rs1287188764	missense variant	-	NC_000002.12:g.9868384A>G	gnomAD
TAF1B	Q53T94	p.His171Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9868387C>G	NCI-TCGA
TAF1B	Q53T94	p.His171Arg	rs1269872437	missense variant	-	NC_000002.12:g.9868388A>G	TOPMed
TAF1B	Q53T94	p.Thr172Ile	rs1255528571	missense variant	-	NC_000002.12:g.9868391C>T	gnomAD
TAF1B	Q53T94	p.Arg173Ter	rs11540127	stop gained	-	NC_000002.12:g.9868393C>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Arg173Ter	rs11540127	stop gained	-	NC_000002.12:g.9868393C>T	NCI-TCGA
TAF1B	Q53T94	p.Arg173Gln	rs1283547206	missense variant	-	NC_000002.12:g.9868394G>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Arg173Gly	rs11540127	missense variant	-	NC_000002.12:g.9868393C>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Arg173Pro	rs1283547206	missense variant	-	NC_000002.12:g.9868394G>C	TOPMed,gnomAD
TAF1B	Q53T94	p.Pro175Arg	rs767376387	missense variant	-	NC_000002.12:g.9868400C>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Phe176Cys	rs1224242785	missense variant	-	NC_000002.12:g.9868403T>G	TOPMed
TAF1B	Q53T94	p.Pro177Arg	rs1322771999	missense variant	-	NC_000002.12:g.9868406C>G	TOPMed
TAF1B	Q53T94	p.Val178Ile	rs1315480671	missense variant	-	NC_000002.12:g.9868408G>A	gnomAD
TAF1B	Q53T94	p.Val178Ile	rs1315480671	missense variant	-	NC_000002.12:g.9868408G>A	NCI-TCGA
TAF1B	Q53T94	p.Lys180Arg	rs756065462	missense variant	-	NC_000002.12:g.9868415A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Ala181Thr	rs764011033	missense variant	-	NC_000002.12:g.9868417G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser182Leu	rs1287921054	missense variant	-	NC_000002.12:g.9868421C>T	TOPMed
TAF1B	Q53T94	p.Glu185Gly	rs200450826	missense variant	-	NC_000002.12:g.9875865A>G	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr186Met	rs557408710	missense variant	-	NC_000002.12:g.9875868C>T	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr186Ala	rs776497396	missense variant	-	NC_000002.12:g.9875867A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Thr186Arg	rs557408710	missense variant	-	NC_000002.12:g.9875868C>G	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser190Pro	rs766038116	missense variant	-	NC_000002.12:g.9875879T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Ser190Phe	rs751150455	missense variant	-	NC_000002.12:g.9875880C>T	ExAC,gnomAD
TAF1B	Q53T94	p.Ser192Tyr	rs767003855	missense variant	-	NC_000002.12:g.9875886C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asp194Asn	rs1380829874	missense variant	-	NC_000002.12:g.9875891G>A	TOPMed
TAF1B	Q53T94	p.Gly195Arg	rs1482592660	missense variant	-	NC_000002.12:g.9875894G>A	gnomAD
TAF1B	Q53T94	p.Val196Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9875898T>A	NCI-TCGA
TAF1B	Q53T94	p.Glu197Lys	rs552159103	missense variant	-	NC_000002.12:g.9875900G>A	gnomAD
TAF1B	Q53T94	p.Ser199Ter	rs756614764	stop gained	-	NC_000002.12:g.9875907C>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Arg201Gly	rs138664395	missense variant	-	NC_000002.12:g.9875912C>G	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Arg201Gln	rs150786470	missense variant	-	NC_000002.12:g.9875913G>A	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Arg201Ter	rs138664395	stop gained	-	NC_000002.12:g.9875912C>T	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys202Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9875917G>T	NCI-TCGA
TAF1B	Q53T94	p.Lys202Arg	rs1342160236	missense variant	-	NC_000002.12:g.9875916A>G	gnomAD
TAF1B	Q53T94	p.Glu203Gln	COSM3990473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9875918G>C	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Glu203Ala	rs1355114246	missense variant	-	NC_000002.12:g.9875919A>C	TOPMed
TAF1B	Q53T94	p.Gly205Arg	rs1397676462	missense variant	-	NC_000002.12:g.9875924G>A	gnomAD
TAF1B	Q53T94	p.Gly205Glu	rs1277178386	missense variant	-	NC_000002.12:g.9875925G>A	gnomAD
TAF1B	Q53T94	p.Ile206Phe	rs1345816991	missense variant	-	NC_000002.12:g.9875927A>T	gnomAD
TAF1B	Q53T94	p.Val207Met	rs926311334	missense variant	-	NC_000002.12:g.9875930G>A	TOPMed
TAF1B	Q53T94	p.Lys208Arg	rs1275945631	missense variant	-	NC_000002.12:g.9875934A>G	gnomAD
TAF1B	Q53T94	p.Met209Leu	rs937710557	missense variant	-	NC_000002.12:g.9875936A>T	gnomAD
TAF1B	Q53T94	p.Met209Arg	rs539814670	missense variant	-	NC_000002.12:g.9875937T>G	1000Genomes,ExAC,gnomAD
TAF1B	Q53T94	p.Met209Val	COSM3971453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9875936A>G	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Met211Val	rs775615215	missense variant	-	NC_000002.12:g.9875942A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Pro212Ser	rs1489471158	missense variant	-	NC_000002.12:g.9875945C>T	gnomAD
TAF1B	Q53T94	p.Leu215His	rs1424697685	missense variant	-	NC_000002.12:g.9875955T>A	TOPMed
TAF1B	Q53T94	p.Ala216Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9875958C>T	NCI-TCGA
TAF1B	Q53T94	p.Ala216Asp	rs769798413	missense variant	-	NC_000002.12:g.9875958C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Tyr219Phe	rs772969033	missense variant	-	NC_000002.12:g.9875967A>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Tyr219Cys	rs772969033	missense variant	-	NC_000002.12:g.9875967A>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Leu220Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9875969C>A	NCI-TCGA
TAF1B	Q53T94	p.Ser221Pro	rs369390290	missense variant	-	NC_000002.12:g.9875972T>C	ESP,ExAC,gnomAD
TAF1B	Q53T94	p.Leu222Phe	rs759169652	missense variant	-	NC_000002.12:g.9875977A>C	ExAC,gnomAD
TAF1B	Q53T94	p.Leu222Val	rs774051098	missense variant	-	NC_000002.12:g.9875975T>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Leu223Arg	rs1252454996	missense variant	-	NC_000002.12:g.9875979T>G	TOPMed
TAF1B	Q53T94	p.Trp224Arg	rs766978729	missense variant	-	NC_000002.12:g.9875981T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Gln225Ter	rs1297408955	stop gained	-	NC_000002.12:g.9875984C>T	gnomAD
TAF1B	Q53T94	p.Ala228Gly	rs752285375	missense variant	-	NC_000002.12:g.9875994C>G	ExAC,gnomAD
TAF1B	Q53T94	p.Ile229Val	rs998035041	missense variant	-	NC_000002.12:g.9875996A>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Thr230Ile	rs1272527022	missense variant	-	NC_000002.12:g.9876000C>T	gnomAD
TAF1B	Q53T94	p.Leu231Pro	rs755531428	missense variant	-	NC_000002.12:g.9876003T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Ser232Thr	rs1030426917	missense variant	-	NC_000002.12:g.9876005T>A	gnomAD
TAF1B	Q53T94	p.Ser232Pro	rs1030426917	missense variant	-	NC_000002.12:g.9876005T>C	gnomAD
TAF1B	Q53T94	p.Asp233Gly	rs764674984	missense variant	-	NC_000002.12:g.9876009A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Leu235Trp	rs1357413122	missense variant	-	NC_000002.12:g.9876015T>G	TOPMed
TAF1B	Q53T94	p.Arg236Thr	rs1214863700	missense variant	-	NC_000002.12:g.9876018G>C	gnomAD
TAF1B	Q53T94	p.Arg236Ser	rs767221752	missense variant	-	NC_000002.12:g.9882706G>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Phe237Val	rs1187321800	missense variant	-	NC_000002.12:g.9882707T>G	TOPMed
TAF1B	Q53T94	p.His242Asn	rs760237041	missense variant	-	NC_000002.12:g.9882722C>A	ExAC,gnomAD
TAF1B	Q53T94	p.His242Arg	rs763507034	missense variant	-	NC_000002.12:g.9882723A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Asn247Tyr	rs1184790391	missense variant	-	NC_000002.12:g.9882737A>T	TOPMed
TAF1B	Q53T94	p.Phe249Leu	rs896378037	missense variant	-	NC_000002.12:g.9882743T>C	TOPMed
TAF1B	Q53T94	p.Gln250His	rs754453093	missense variant	-	NC_000002.12:g.9882748G>C	ExAC,gnomAD
TAF1B	Q53T94	p.His251Arg	rs186506722	missense variant	-	NC_000002.12:g.9882750A>G	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.His251Asn	rs762386268	missense variant	-	NC_000002.12:g.9882749C>A	ExAC,gnomAD
TAF1B	Q53T94	p.His251Leu	rs186506722	missense variant	-	NC_000002.12:g.9882750A>T	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Pro253Leu	rs1473646307	missense variant	-	NC_000002.12:g.9882756C>T	gnomAD
TAF1B	Q53T94	p.Met256Val	rs140431230	missense variant	-	NC_000002.12:g.9882764A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys257Asn	rs1410212518	missense variant	-	NC_000002.12:g.9882769A>T	gnomAD
TAF1B	Q53T94	p.Leu258Phe	rs755147605	missense variant	-	NC_000002.12:g.9882772A>T	ExAC,gnomAD
TAF1B	Q53T94	p.Tyr259Cys	rs147521086	missense variant	-	NC_000002.12:g.9882774A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Tyr259His	rs781113530	missense variant	-	NC_000002.12:g.9882773T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Arg261His	rs972127267	missense variant	-	NC_000002.12:g.9882780G>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Arg261Cys	rs770888842	missense variant	-	NC_000002.12:g.9882779C>T	ExAC,gnomAD
TAF1B	Q53T94	p.Ile265Leu	rs1026757833	missense variant	-	NC_000002.12:g.9882791A>C	TOPMed
TAF1B	Q53T94	p.Gly267Asp	rs778775179	missense variant	-	NC_000002.12:g.9882798G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Gly267Val	rs778775179	missense variant	-	NC_000002.12:g.9882798G>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ile268Thr	rs1316154170	missense variant	-	NC_000002.12:g.9882801T>C	gnomAD
TAF1B	Q53T94	p.Ile268Val	rs772211663	missense variant	-	NC_000002.12:g.9882800A>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser270Phe	rs778828193	missense variant	-	NC_000002.12:g.9904860C>T	ExAC,gnomAD
TAF1B	Q53T94	p.Trp271Gly	rs1342577833	missense variant	-	NC_000002.12:g.9904862T>G	TOPMed
TAF1B	Q53T94	p.Pro272Ser	rs142976824	missense variant	-	NC_000002.12:g.9904865C>T	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Pro272Thr	rs142976824	missense variant	-	NC_000002.12:g.9904865C>A	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asp273His	rs771960887	missense variant	-	NC_000002.12:g.9904868G>C	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asp273Glu	rs76120746	missense variant	-	NC_000002.12:g.9904870C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Tyr274Ter	rs1479258973	stop gained	-	NC_000002.12:g.9904873C>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Glu275Lys	rs768557866	missense variant	-	NC_000002.12:g.9904874G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ile277Thr	rs768222008	missense variant	-	NC_000002.12:g.9904881T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Tyr278Ter	COSM3729881	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9904885C>-	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Tyr278Cys	rs776371933	missense variant	-	NC_000002.12:g.9904884A>G	ExAC
TAF1B	Q53T94	p.Tyr278Ter	rs400917	stop gained	-	NC_000002.12:g.9904885C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys279Ter	rs1358809324	stop gained	-	NC_000002.12:g.9904886A>T	gnomAD
TAF1B	Q53T94	p.Thr281Ile	rs763351690	missense variant	-	NC_000002.12:g.9904893C>T	ExAC,gnomAD
TAF1B	Q53T94	p.Thr281Ala	rs773917356	missense variant	-	NC_000002.12:g.9904892A>G	ExAC,TOPMed
TAF1B	Q53T94	p.Val282Ile	rs396190	missense variant	-	NC_000002.12:g.9904895G>A	UniProt,dbSNP
TAF1B	Q53T94	p.Val282Ile	VAR_029379	missense variant	-	NC_000002.12:g.9904895G>A	UniProt
TAF1B	Q53T94	p.Val282Ile	rs396190	missense variant	-	NC_000002.12:g.9904895G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val282Gly	rs553591595	missense variant	-	NC_000002.12:g.9904896T>G	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu283Ala	rs370486267	missense variant	-	NC_000002.12:g.9904899A>C	ESP,ExAC,gnomAD
TAF1B	Q53T94	p.Leu290Trp	rs1283662420	missense variant	-	NC_000002.12:g.9904920T>G	gnomAD
TAF1B	Q53T94	p.Leu290Met	rs1046794771	missense variant	-	NC_000002.12:g.9904919T>A	TOPMed
TAF1B	Q53T94	p.Arg292Cys	rs374536272	missense variant	-	NC_000002.12:g.9904925C>T	ESP,ExAC,gnomAD
TAF1B	Q53T94	p.Arg292His	rs16867223	missense variant	-	NC_000002.12:g.9904926G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Phe293Cys	COSM4083719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9904929T>G	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Asp295Gly	rs1268759925	missense variant	-	NC_000002.12:g.9904935A>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Asp295Val	rs1268759925	missense variant	-	NC_000002.12:g.9904935A>T	TOPMed,gnomAD
TAF1B	Q53T94	p.Cys300Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.9904951C>A	NCI-TCGA
TAF1B	Q53T94	p.TyrLeuHis301Ter	rs772224343	stop gained	-	NC_000002.12:g.9904954_9904958del	ExAC,TOPMed
TAF1B	Q53T94	p.Tyr301Cys	rs141776880	missense variant	-	NC_000002.12:g.9904953A>G	1000Genomes,ESP,TOPMed
TAF1B	Q53T94	p.Leu302Arg	rs555519382	missense variant	-	NC_000002.12:g.9904956T>G	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.His303Arg	rs1353809637	missense variant	-	NC_000002.12:g.9904959A>G	TOPMed
TAF1B	Q53T94	p.His303Tyr	rs575554596	missense variant	-	NC_000002.12:g.9904958C>T	1000Genomes,ExAC,gnomAD
TAF1B	Q53T94	p.Asn305Ser	rs779999380	missense variant	-	NC_000002.12:g.9904965A>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ile306Val	rs1326829299	missense variant	-	NC_000002.12:g.9904967A>G	TOPMed
TAF1B	Q53T94	p.Ile306Lys	rs138651506	missense variant	-	NC_000002.12:g.9904968T>A	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ile306Thr	rs138651506	missense variant	-	NC_000002.12:g.9904968T>C	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ile306Met	rs754759809	missense variant	-	NC_000002.12:g.9904969A>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Leu307Val	rs771026771	missense variant	-	NC_000002.12:g.9904970C>G	gnomAD
TAF1B	Q53T94	p.Met309Ile	rs780992456	missense variant	-	NC_000002.12:g.9904978G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Glu314Gly	rs1183933060	missense variant	-	NC_000002.12:g.9904992A>G	TOPMed
TAF1B	Q53T94	p.Val315Ala	rs903458724	missense variant	-	NC_000002.12:g.9904995T>C	TOPMed
TAF1B	Q53T94	p.Pro318Ala	rs374893764	missense variant	-	NC_000002.12:g.9905003C>G	ESP,ExAC,gnomAD
TAF1B	Q53T94	p.Pro318Thr	rs374893764	missense variant	-	NC_000002.12:g.9905003C>A	ESP,ExAC,gnomAD
TAF1B	Q53T94	p.Glu320Ter	COSM1410311	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9910738G>T	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Glu320Lys	COSM715012	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9910738G>A	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Met321Ile	rs375153400	missense variant	-	NC_000002.12:g.9910743G>A	ESP,TOPMed
TAF1B	Q53T94	p.His322Asp	rs1314642871	missense variant	-	NC_000002.12:g.9910744C>G	gnomAD
TAF1B	Q53T94	p.Ser323Asn	rs61743065	missense variant	-	NC_000002.12:g.9910748G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser323Arg	rs755864987	missense variant	-	NC_000002.12:g.9910747A>C	ExAC,gnomAD
TAF1B	Q53T94	p.Leu324Ser	rs376640586	missense variant	-	NC_000002.12:g.9910751T>C	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Leu324Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9910752A>C	NCI-TCGA
TAF1B	Q53T94	p.Thr325Ile	rs1184573723	missense variant	-	NC_000002.12:g.9910754C>T	gnomAD
TAF1B	Q53T94	p.Thr325Ser	rs1341530430	missense variant	-	NC_000002.12:g.9910753A>T	TOPMed
TAF1B	Q53T94	p.Cys326Ter	rs746361667	stop gained	-	NC_000002.12:g.9910758C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Cys326Tyr	rs774787506	missense variant	-	NC_000002.12:g.9910757G>A	ExAC,gnomAD
TAF1B	Q53T94	p.His327Leu	rs146798607	missense variant	-	NC_000002.12:g.9910760A>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.His327Gln	rs146568033	missense variant	-	NC_000002.12:g.9910761C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val328Met	rs540281305	missense variant	-	NC_000002.12:g.9910762G>A	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val329Leu	rs200551366	missense variant	-	NC_000002.12:g.9910765G>T	1000Genomes,ExAC,gnomAD
TAF1B	Q53T94	p.Glu336Ter	rs200021053	stop gained	-	NC_000002.12:g.9910786G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val337Leu	rs751507059	missense variant	-	NC_000002.12:g.9910789G>C	ExAC
TAF1B	Q53T94	p.Asp338His	rs1445195766	missense variant	-	NC_000002.12:g.9910792G>C	gnomAD
TAF1B	Q53T94	p.Phe342Leu	rs767527458	missense variant	-	NC_000002.12:g.9910804T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Pro344Leu	rs752564710	missense variant	-	NC_000002.12:g.9910811C>T	ExAC,gnomAD
TAF1B	Q53T94	p.Ile345Val	rs150357943	missense variant	-	NC_000002.12:g.9910813A>G	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ala346Asp	rs777297388	missense variant	-	NC_000002.12:g.9910817C>A	ExAC,gnomAD
TAF1B	Q53T94	p.Lys347Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9910820A>C	NCI-TCGA
TAF1B	Q53T94	p.Thr351Ile	rs778463477	missense variant	-	NC_000002.12:g.9910832C>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr351Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9910832C>A	NCI-TCGA
TAF1B	Q53T94	p.Thr351Ala	rs1054565	missense variant	-	NC_000002.12:g.9910831A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr351Ser	rs778463477	missense variant	-	NC_000002.12:g.9910832C>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val352Ile	rs1216229654	missense variant	-	NC_000002.12:g.9910834G>A	gnomAD
TAF1B	Q53T94	p.Asp355Asn	rs906671948	missense variant	-	NC_000002.12:g.9910843G>A	TOPMed
TAF1B	Q53T94	p.Val356Ile	rs1211442083	missense variant	-	NC_000002.12:g.9910846G>A	gnomAD
TAF1B	Q53T94	p.Ala358Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9910853C>A	NCI-TCGA
TAF1B	Q53T94	p.Ala358Thr	rs747384884	missense variant	-	NC_000002.12:g.9910852G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Ile361Val	rs1264127883	missense variant	-	NC_000002.12:g.9910861A>G	gnomAD
TAF1B	Q53T94	p.Ile362Val	rs768996210	missense variant	-	NC_000002.12:g.9910864A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Val363Met	rs202230715	missense variant	-	NC_000002.12:g.9910867G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Val364Gly	rs762078724	missense variant	-	NC_000002.12:g.9910871T>G	ExAC,gnomAD
TAF1B	Q53T94	p.Val364Ala	rs762078724	missense variant	-	NC_000002.12:g.9910871T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Leu368Pro	rs1249685243	missense variant	-	NC_000002.12:g.9910883T>C	TOPMed
TAF1B	Q53T94	p.Phe370Leu	rs1362010050	missense variant	-	NC_000002.12:g.9910890T>G	gnomAD
TAF1B	Q53T94	p.Ser375Gly	rs138046758	missense variant	-	NC_000002.12:g.9910903A>G	ESP,ExAC,gnomAD
TAF1B	Q53T94	p.Phe376Leu	rs369161786	missense variant	-	NC_000002.12:g.9910908C>A	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Phe376Ser	rs1220508649	missense variant	-	NC_000002.12:g.9910907T>C	TOPMed,gnomAD
TAF1B	Q53T94	p.Glu377Ter	rs150678685	stop gained	-	NC_000002.12:g.9910909G>T	ESP,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu377Lys	rs150678685	missense variant	-	NC_000002.12:g.9910909G>A	ESP,TOPMed,gnomAD
TAF1B	Q53T94	p.Trp378Ter	rs1233987702	stop gained	-	NC_000002.12:g.9910913G>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Ser379Tyr	rs368058096	missense variant	-	NC_000002.12:g.9911513C>A	-
TAF1B	Q53T94	p.Leu380Phe	rs1223799435	missense variant	-	NC_000002.12:g.9911517G>T	gnomAD
TAF1B	Q53T94	p.Lys386Glu	rs998156542	missense variant	-	NC_000002.12:g.9911533A>G	TOPMed
TAF1B	Q53T94	p.His387Tyr	rs1356597225	missense variant	-	NC_000002.12:g.9911536C>T	TOPMed
TAF1B	Q53T94	p.His387Pro	rs528962995	missense variant	-	NC_000002.12:g.9911537A>C	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.His387Arg	rs528962995	missense variant	-	NC_000002.12:g.9911537A>G	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.His387Gln	rs775626545	missense variant	-	NC_000002.12:g.9911538T>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asn388Lys	rs1437582272	missense variant	-	NC_000002.12:g.9911541T>A	gnomAD
TAF1B	Q53T94	p.Glu389Lys	rs1157819299	missense variant	-	NC_000002.12:g.9911542G>A	gnomAD
TAF1B	Q53T94	p.Glu389Val	rs1356374140	missense variant	-	NC_000002.12:g.9911543A>T	TOPMed
TAF1B	Q53T94	p.Asn391Lys	rs760641710	missense variant	-	NC_000002.12:g.9911550C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys392Glu	rs763833813	missense variant	-	NC_000002.12:g.9911551A>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys392Arg	rs974608846	missense variant	-	NC_000002.12:g.9911552A>G	-
TAF1B	Q53T94	p.Asp394Gly	rs938711868	missense variant	-	NC_000002.12:g.9913159A>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Lys395Thr	rs1179743719	missense variant	-	NC_000002.12:g.9913162A>C	gnomAD
TAF1B	Q53T94	p.Asp399Asn	rs908344751	missense variant	-	NC_000002.12:g.9913173G>A	TOPMed
TAF1B	Q53T94	p.Met407Ile	rs1403022803	missense variant	-	NC_000002.12:g.9913199G>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Met407Thr	rs755543298	missense variant	-	NC_000002.12:g.9913198T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Lys408Ter	COSM1004434	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9913200A>T	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Ala410Val	rs1165485207	missense variant	-	NC_000002.12:g.9913207C>T	TOPMed
TAF1B	Q53T94	p.Asp412His	rs75930871	missense variant	-	NC_000002.12:g.9913212G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Gln416Lys	rs748564258	missense variant	-	NC_000002.12:g.9913224C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Gln416Glu	rs748564258	missense variant	-	NC_000002.12:g.9913224C>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Trp418Ter	rs756370212	stop gained	-	NC_000002.12:g.9913231G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Trp418Arg	rs78987180	missense variant	-	NC_000002.12:g.9913230T>C	1000Genomes,ESP,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu419Lys	rs778208649	missense variant	-	NC_000002.12:g.9913233G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Ala421Thr	rs1291662268	missense variant	-	NC_000002.12:g.9913239G>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Tyr425Cys	rs1242137661	missense variant	-	NC_000002.12:g.9919043A>G	gnomAD
TAF1B	Q53T94	p.Ser429Thr	rs201786959	missense variant	-	NC_000002.12:g.9919055G>C	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser429Arg	rs754275462	missense variant	-	NC_000002.12:g.9919056T>A	ExAC,gnomAD
TAF1B	Q53T94	p.Glu430Gly	rs757635868	missense variant	-	NC_000002.12:g.9919058A>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Leu433His	rs750604612	missense variant	-	NC_000002.12:g.9919067T>A	ExAC,gnomAD
TAF1B	Q53T94	p.Tyr434Ser	rs748155417	missense variant	-	NC_000002.12:g.9919070A>C	ExAC
TAF1B	Q53T94	p.Tyr434His	rs779971167	missense variant	-	NC_000002.12:g.9919069T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Tyr435Phe	rs769750721	missense variant	-	NC_000002.12:g.9919073A>T	ExAC,gnomAD
TAF1B	Q53T94	p.Phe437Ser	rs367838899	missense variant	-	NC_000002.12:g.9919079T>C	ESP,TOPMed
TAF1B	Q53T94	p.Phe437Val	rs777633538	missense variant	-	NC_000002.12:g.9919078T>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val438Phe	rs1471738098	missense variant	-	NC_000002.12:g.9919081G>T	TOPMed
TAF1B	Q53T94	p.Asp439Gly	rs1163845932	missense variant	-	NC_000002.12:g.9919085A>G	gnomAD
TAF1B	Q53T94	p.Asp439Asn	rs770713103	missense variant	-	NC_000002.12:g.9919084G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Pro441Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9919090C>G	NCI-TCGA
TAF1B	Q53T94	p.AlaTyrLys443AlaTerUnk	rs1459994677	stop gained	-	NC_000002.12:g.9919101_9919102del	gnomAD
TAF1B	Q53T94	p.Tyr444Cys	rs1377604037	missense variant	-	NC_000002.12:g.9919100A>G	gnomAD
TAF1B	Q53T94	p.Tyr444His	rs759089203	missense variant	-	NC_000002.12:g.9919099T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Lys445Ter	COSM4083720	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.9919102A>T	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Arg447GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.9919102A>-	NCI-TCGA
TAF1B	Q53T94	p.Arg447Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9919109G>C	NCI-TCGA
TAF1B	Q53T94	p.Met449Val	rs201240819	missense variant	-	NC_000002.12:g.9919600A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val450Met	rs150986511	missense variant	-	NC_000002.12:g.9919603G>A	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val450Leu	rs150986511	missense variant	-	NC_000002.12:g.9919603G>C	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val451Ala	rs1259847411	missense variant	-	NC_000002.12:g.9919607T>C	gnomAD
TAF1B	Q53T94	p.Asn452Lys	rs144539941	missense variant	-	NC_000002.12:g.9919611T>A	ESP,ExAC,gnomAD
TAF1B	Q53T94	p.Ser458ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.9919628_9919634GCACACT>-	NCI-TCGA
TAF1B	Q53T94	p.Ser458Asn	rs59159809	missense variant	-	NC_000002.12:g.9919628G>A	gnomAD
TAF1B	Q53T94	p.Thr459Arg	rs1372476095	missense variant	-	NC_000002.12:g.9919631C>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Thr459Ala	rs773478047	missense variant	-	NC_000002.12:g.9919630A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Leu460Val	rs1314519738	missense variant	-	NC_000002.12:g.9919633C>G	gnomAD
TAF1B	Q53T94	p.Glu462Gln	rs137900719	missense variant	-	NC_000002.12:g.9919639G>C	ESP,gnomAD
TAF1B	Q53T94	p.Glu462Asp	rs1820965	missense variant	-	NC_000002.12:g.9919641G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu462Lys	rs137900719	missense variant	-	NC_000002.12:g.9919639G>A	ESP,gnomAD
TAF1B	Q53T94	p.Ser463Leu	rs146360523	missense variant	-	NC_000002.12:g.9919643C>T	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser463Ter	rs146360523	stop gained	-	NC_000002.12:g.9919643C>A	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr464Ala	rs541855354	missense variant	-	NC_000002.12:g.9919645A>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Thr466Ala	rs1395980975	missense variant	-	NC_000002.12:g.9919651A>G	TOPMed
TAF1B	Q53T94	p.Lys470Asn	rs1169998980	missense variant	-	NC_000002.12:g.9919665A>C	TOPMed,gnomAD
TAF1B	Q53T94	p.Ser471Arg	rs757172994	missense variant	-	NC_000002.12:g.9919668C>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser471Asn	rs753813125	missense variant	-	NC_000002.12:g.9919667G>A	ExAC,gnomAD
TAF1B	Q53T94	p.Ser471LysPheSerTerUnkUnk	rs561825550	frameshift	-	NC_000002.12:g.9919658_9919659insA	NCI-TCGA
TAF1B	Q53T94	p.Pro472Ala	rs1056395975	missense variant	-	NC_000002.12:g.9919669C>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Ser473Leu	rs1193486761	missense variant	-	NC_000002.12:g.9919673C>T	TOPMed
TAF1B	Q53T94	p.Phe475Val	rs1484773279	missense variant	-	NC_000002.12:g.9919678T>G	gnomAD
TAF1B	Q53T94	p.Gln476Ter	rs1210448991	stop gained	-	NC_000002.12:g.9919681C>T	gnomAD
TAF1B	Q53T94	p.Asn478Ser	rs377120295	missense variant	-	NC_000002.12:g.9919688A>G	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asn478Lys	rs758143623	missense variant	-	NC_000002.12:g.9919689C>G	ExAC,gnomAD
TAF1B	Q53T94	p.Trp479Ser	rs1395035849	missense variant	-	NC_000002.12:g.9919691G>C	gnomAD
TAF1B	Q53T94	p.Trp479Cys	rs779637593	missense variant	-	NC_000002.12:g.9919692G>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu482Lys	rs746646623	missense variant	-	NC_000002.12:g.9919699G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asp483Glu	rs1403363609	missense variant	-	NC_000002.12:g.9919704C>G	gnomAD
TAF1B	Q53T94	p.Asp483Gly	rs1175211730	missense variant	-	NC_000002.12:g.9919703A>G	gnomAD
TAF1B	Q53T94	p.Thr484Ile	rs768327203	missense variant	-	NC_000002.12:g.9919706C>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asp485Gly	rs776246422	missense variant	-	NC_000002.12:g.9919709A>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Asp485Val	rs776246422	missense variant	-	NC_000002.12:g.9919709A>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr487Met	rs16867245	missense variant	-	NC_000002.12:g.9919715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.His490Arg	rs898290034	missense variant	-	NC_000002.12:g.9919724A>G	TOPMed,gnomAD
TAF1B	Q53T94	p.Gly491Arg	rs200886342	missense variant	-	NC_000002.12:g.9919726G>A	gnomAD
TAF1B	Q53T94	p.His492Pro	rs1346150414	missense variant	-	NC_000002.12:g.9919730A>C	gnomAD
TAF1B	Q53T94	p.Leu494His	rs201051317	missense variant	-	NC_000002.12:g.9919736T>A	1000Genomes,ExAC,gnomAD
TAF1B	Q53T94	p.Gln495Pro	rs539432217	missense variant	-	NC_000002.12:g.9919739A>C	gnomAD
TAF1B	Q53T94	p.Gln495Arg	rs539432217	missense variant	-	NC_000002.12:g.9919739A>G	gnomAD
TAF1B	Q53T94	p.Gln495Ter	rs1321947878	stop gained	-	NC_000002.12:g.9919738C>T	-
TAF1B	Q53T94	p.Gly496Ala	rs767688435	missense variant	-	NC_000002.12:g.9919742G>C	ExAC,gnomAD
TAF1B	Q53T94	p.Lys501Arg	rs139672043	missense variant	-	NC_000002.12:g.9919757A>G	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Gly502Val	rs147156611	missense variant	-	NC_000002.12:g.9919760G>T	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Gln503Arg	rs200399688	missense variant	-	NC_000002.12:g.9919763A>G	ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Ser504Ala	COSM4083721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9919765T>G	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Ser504Leu	rs1291897262	missense variant	-	NC_000002.12:g.9919766C>T	TOPMed,gnomAD
TAF1B	Q53T94	p.Leu506Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9919771C>A	NCI-TCGA
TAF1B	Q53T94	p.Thr507Ile	rs779972180	missense variant	-	NC_000002.12:g.9919775C>T	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr507Asn	rs779972180	missense variant	-	NC_000002.12:g.9919775C>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Thr507Ala	rs1207518912	missense variant	-	NC_000002.12:g.9919774A>G	gnomAD
TAF1B	Q53T94	p.Lys508Asn	COSM1004436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9919779G>T	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Lys508LeuPheLeu	NCI-TCGA novel	insertion	-	NC_000002.12:g.9919778_9919779insATTGTTTCT	NCI-TCGA
TAF1B	Q53T94	p.Asn509Lys	COSM1004437	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9919782T>G	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Asn509Ser	rs1428729352	missense variant	-	NC_000002.12:g.9919781A>G	gnomAD
TAF1B	Q53T94	p.Trp513Arg	rs754704790	missense variant	-	NC_000002.12:g.9919792T>C	ExAC,gnomAD
TAF1B	Q53T94	p.Leu514Phe	rs780939522	missense variant	-	NC_000002.12:g.9919795C>T	ExAC,gnomAD
TAF1B	Q53T94	p.Thr516Ala	rs1462611310	missense variant	-	NC_000002.12:g.9919801A>G	gnomAD
TAF1B	Q53T94	p.Thr516Ile	rs1397477949	missense variant	-	NC_000002.12:g.9919802C>T	TOPMed
TAF1B	Q53T94	p.Gln517His	COSM1410313	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9919806G>T	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Phe519Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9919810T>G	NCI-TCGA
TAF1B	Q53T94	p.Phe519Tyr	rs1427931673	missense variant	-	NC_000002.12:g.9919811T>A	TOPMed
TAF1B	Q53T94	p.Phe519Leu	rs1259746730	missense variant	-	NC_000002.12:g.9919812C>A	TOPMed
TAF1B	Q53T94	p.Arg521Ser	rs769345621	missense variant	-	NC_000002.12:g.9919818A>C	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Tyr523His	rs1275096570	missense variant	-	NC_000002.12:g.9933784T>C	gnomAD
TAF1B	Q53T94	p.Tyr523Ter	rs1293012301	stop gained	-	NC_000002.12:g.9933786T>A	gnomAD
TAF1B	Q53T94	p.Thr525Ile	rs751419782	missense variant	-	NC_000002.12:g.9933791C>T	ExAC,gnomAD
TAF1B	Q53T94	p.Tyr530Cys	rs781060198	missense variant	-	NC_000002.12:g.9933806A>G	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Glu531Gln	rs1227752132	missense variant	-	NC_000002.12:g.9933808G>C	TOPMed
TAF1B	Q53T94	p.Glu532Ter	rs952643617	stop gained	-	NC_000002.12:g.9933811G>T	TOPMed
TAF1B	Q53T94	p.Ser533Thr	rs1312461269	missense variant	-	NC_000002.12:g.9933814T>A	TOPMed
TAF1B	Q53T94	p.Ser533Leu	rs1185074326	missense variant	-	NC_000002.12:g.9933815C>T	TOPMed,gnomAD
TAF1B	Q53T94	p.Ser533Ter	rs1185074326	stop gained	-	NC_000002.12:g.9933815C>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Asn534Lys	COSM76668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9933819T>A	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Asn534Ser	rs200293978	missense variant	-	NC_000002.12:g.9933818A>G	1000Genomes
TAF1B	Q53T94	p.Ser536Pro	rs376850207	missense variant	-	NC_000002.12:g.9933823T>C	ESP,TOPMed
TAF1B	Q53T94	p.Leu537Pro	rs752383917	missense variant	-	NC_000002.12:g.9933827T>C	ExAC
TAF1B	Q53T94	p.Tyr539Cys	rs371005058	missense variant	-	NC_000002.12:g.9933833A>G	ESP,ExAC,gnomAD
TAF1B	Q53T94	p.Tyr539TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.9933832_9933833insGG	NCI-TCGA
TAF1B	Q53T94	p.Gln540Arg	rs748706662	missense variant	-	NC_000002.12:g.9933836A>G	ExAC,gnomAD
TAF1B	Q53T94	p.Gln540Glu	rs570159917	missense variant	-	NC_000002.12:g.9933835C>G	1000Genomes,ExAC,gnomAD
TAF1B	Q53T94	p.Ile542Met	rs539076734	missense variant	-	NC_000002.12:g.9933843A>G	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Leu545Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.9933850C>G	NCI-TCGA
TAF1B	Q53T94	p.Leu545Arg	rs1384070914	missense variant	-	NC_000002.12:g.9933851T>G	gnomAD
TAF1B	Q53T94	p.Phe546Ser	rs1409717949	missense variant	-	NC_000002.12:g.9933854T>C	TOPMed
TAF1B	Q53T94	p.Arg551Gly	rs1368825817	missense variant	-	NC_000002.12:g.9933868A>G	TOPMed
TAF1B	Q53T94	p.Ser555Ala	rs1228327390	missense variant	-	NC_000002.12:g.9933880T>G	gnomAD
TAF1B	Q53T94	p.Ser555Cys	rs775631879	missense variant	-	NC_000002.12:g.9933881C>G	ExAC,gnomAD
TAF1B	Q53T94	p.Ser555Phe	rs775631879	missense variant	-	NC_000002.12:g.9933881C>T	ExAC,gnomAD
TAF1B	Q53T94	p.Leu556Ile	rs111442552	missense variant	-	NC_000002.12:g.9933883C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Leu556Pro	rs1462697977	missense variant	-	NC_000002.12:g.9933884T>C	TOPMed
TAF1B	Q53T94	p.His558Arg	rs930184187	missense variant	-	NC_000002.12:g.9933890A>G	gnomAD
TAF1B	Q53T94	p.Glu560Ala	rs761746332	missense variant	-	NC_000002.12:g.9933896A>C	ExAC,gnomAD
TAF1B	Q53T94	p.Glu560Lys	rs964091274	missense variant	-	NC_000002.12:g.9933895G>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Val564Ala	rs369799473	missense variant	-	NC_000002.12:g.9933908T>C	TOPMed,gnomAD
TAF1B	Q53T94	p.Lys566Asn	COSM1004444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9933915G>T	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Leu568Ile	rs774360958	missense variant	-	NC_000002.12:g.9933919C>A	ExAC,TOPMed
TAF1B	Q53T94	p.Phe569Ser	rs1227367396	missense variant	-	NC_000002.12:g.9933923T>C	gnomAD
TAF1B	Q53T94	p.Glu570Lys	rs759464643	missense variant	-	NC_000002.12:g.9933925G>A	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys572Thr	COSM4083726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.9933932A>C	NCI-TCGA Cosmic
TAF1B	Q53T94	p.Ser574Arg	rs767401014	missense variant	-	NC_000002.12:g.9933937A>C	ExAC,gnomAD
TAF1B	Q53T94	p.Ser574Asn	rs1396082539	missense variant	-	NC_000002.12:g.9933938G>A	gnomAD
TAF1B	Q53T94	p.Lys576Glu	rs199505010	missense variant	-	NC_000002.12:g.9933943A>G	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Lys579Gln	rs763606013	missense variant	-	NC_000002.12:g.9933952A>C	ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Val585Glu	rs534584111	missense variant	-	NC_000002.12:g.9933971T>A	1000Genomes,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.Arg587Gln	rs977539155	missense variant	-	NC_000002.12:g.9933977G>A	TOPMed,gnomAD
TAF1B	Q53T94	p.Arg587Ter	rs369291963	stop gained	-	NC_000002.12:g.9933976C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAF1B	Q53T94	p.His588Leu	rs1429957676	missense variant	-	NC_000002.12:g.9933980A>T	gnomAD
FIGN	Q5HY92	p.Ser3Arg	rs372786690	missense variant	-	NC_000002.12:g.163734921T>G	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr5Ala	rs1326974767	missense variant	-	NC_000002.12:g.163734915T>C	TOPMed
FIGN	Q5HY92	p.Ser6ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163734912T>-	NCI-TCGA
FIGN	Q5HY92	p.Val7Ala	COSM717162	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163734908A>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Gly9Ala	rs752565413	missense variant	-	NC_000002.12:g.163611806C>G	ExAC,gnomAD
FIGN	Q5HY92	p.Gly9Ser	rs755993016	missense variant	-	NC_000002.12:g.163734903C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Gly9Asp	rs752565413	missense variant	-	NC_000002.12:g.163611806C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Leu10Phe	COSM6154544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611802C>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Lys11Arg	rs1456617853	missense variant	-	NC_000002.12:g.163611800T>C	TOPMed
FIGN	Q5HY92	p.Thr15Met	rs199883388	missense variant	-	NC_000002.12:g.163611788G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro16Arg	rs1256558799	missense variant	-	NC_000002.12:g.163611785G>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Pro16Ser	rs1242702029	missense variant	-	NC_000002.12:g.163611786G>A	gnomAD
FIGN	Q5HY92	p.Glu17Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611781C>A	NCI-TCGA
FIGN	Q5HY92	p.Ala19Ser	COSM1482099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611777C>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ala19Val	rs766019629	missense variant	-	NC_000002.12:g.163611776G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala19Gly	rs766019629	missense variant	-	NC_000002.12:g.163611776G>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gln20His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611772C>G	NCI-TCGA
FIGN	Q5HY92	p.Pro22Leu	rs1438042391	missense variant	-	NC_000002.12:g.163611767G>A	TOPMed
FIGN	Q5HY92	p.Pro22Ser	rs1347756778	missense variant	-	NC_000002.12:g.163611768G>A	TOPMed
FIGN	Q5HY92	p.His25Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611759G>A	NCI-TCGA
FIGN	Q5HY92	p.Phe26Tyr	rs762510306	missense variant	-	NC_000002.12:g.163611755A>T	ExAC,gnomAD
FIGN	Q5HY92	p.Asp27Asn	rs772541947	missense variant	-	NC_000002.12:g.163611753C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr32Ala	rs1261351047	missense variant	-	NC_000002.12:g.163611738T>C	gnomAD
FIGN	Q5HY92	p.Arg33Pro	COSM4922721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611734C>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Arg33Leu	rs765780931	missense variant	-	NC_000002.12:g.163611734C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Pro35Ala	rs1389572507	missense variant	-	NC_000002.12:g.163611729G>C	gnomAD
FIGN	Q5HY92	p.Pro35Leu	rs1160890780	missense variant	-	NC_000002.12:g.163611728G>A	gnomAD
FIGN	Q5HY92	p.Ala36Asp	COSM1325817	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611725G>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ala36Thr	rs777077620	missense variant	-	NC_000002.12:g.163611726C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Val39Asp	rs1449445962	missense variant	-	NC_000002.12:g.163611716A>T	gnomAD
FIGN	Q5HY92	p.Val39Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611717C>A	NCI-TCGA
FIGN	Q5HY92	p.Tyr42Cys	rs957909505	missense variant	-	NC_000002.12:g.163611707T>C	-
FIGN	Q5HY92	p.Arg43Lys	rs775910769	missense variant	-	NC_000002.12:g.163611704C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Gly44Asp	rs745962085	missense variant	-	NC_000002.12:g.163611701C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly44Ser	rs1329931286	missense variant	-	NC_000002.12:g.163611702C>T	gnomAD
FIGN	Q5HY92	p.His45Asp	rs778814837	missense variant	-	NC_000002.12:g.163611699G>C	ExAC,gnomAD
FIGN	Q5HY92	p.Arg48Cys	rs756095635	missense variant	-	NC_000002.12:g.163611690G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Arg48His	rs748081011	missense variant	-	NC_000002.12:g.163611689C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg48Ser	rs756095635	missense variant	-	NC_000002.12:g.163611690G>T	ExAC,gnomAD
FIGN	Q5HY92	p.Thr49Pro	rs777998583	missense variant	-	NC_000002.12:g.163611687T>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr49Ala	rs777998583	missense variant	-	NC_000002.12:g.163611687T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Tyr50Cys	rs1299465429	missense variant	-	NC_000002.12:g.163611683T>C	gnomAD
FIGN	Q5HY92	p.Tyr50His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611684A>G	NCI-TCGA
FIGN	Q5HY92	p.Gln51Arg	rs1223928926	missense variant	-	NC_000002.12:g.163611680T>C	TOPMed
FIGN	Q5HY92	p.Ile59Val	COSM717164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611657T>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ser60Phe	COSM4824427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611653G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ser60Thr	rs757924225	missense variant	-	NC_000002.12:g.163611654A>T	ExAC,gnomAD
FIGN	Q5HY92	p.Ala61Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611651C>T	NCI-TCGA
FIGN	Q5HY92	p.Lys69Arg	rs761363659	missense variant	-	NC_000002.12:g.163611626T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Lys70AsnPheSerTerUnkUnk	rs749851531	frameshift	-	NC_000002.12:g.163611622T>-	NCI-TCGA,NCI-TCGA Cosmic
FIGN	Q5HY92	p.Tyr71IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163611621_163611622insT	NCI-TCGA
FIGN	Q5HY92	p.Glu73Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611614T>C	NCI-TCGA
FIGN	Q5HY92	p.Lys74Thr	COSM1252449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611611T>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Tyr75Ter	COSM6088145	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163611607A>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ser76Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611606A>G	NCI-TCGA
FIGN	Q5HY92	p.Gly77Ala	rs1196985033	missense variant	-	NC_000002.12:g.163611602C>G	gnomAD
FIGN	Q5HY92	p.Ile78Val	rs761133484	missense variant	-	NC_000002.12:g.163611600T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Leu79Ser	rs1472836615	missense variant	-	NC_000002.12:g.163611596A>G	TOPMed
FIGN	Q5HY92	p.Glu80Lys	rs772452986	missense variant	-	NC_000002.12:g.163611594C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Glu80Asp	rs375406052	missense variant	-	NC_000002.12:g.163611592T>G	gnomAD
FIGN	Q5HY92	p.Pro82Ser	rs368385434	missense variant	-	NC_000002.12:g.163611588G>A	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Asp84Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611582C>T	NCI-TCGA
FIGN	Q5HY92	p.Arg85Ter	rs568198210	stop gained	-	NC_000002.12:g.163611579G>A	1000Genomes,ExAC,gnomAD
FIGN	Q5HY92	p.Pro86Ser	rs749385890	missense variant	-	NC_000002.12:g.163611576G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Pro86Leu	rs1335503612	missense variant	-	NC_000002.12:g.163611575G>A	gnomAD
FIGN	Q5HY92	p.Val87Ile	rs781168253	missense variant	-	NC_000002.12:g.163611573C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val87Ala	rs1323683739	missense variant	-	NC_000002.12:g.163611572A>G	TOPMed
FIGN	Q5HY92	p.Ser89Gly	rs768525808	missense variant	-	NC_000002.12:g.163611567T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Ser89Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611565G>C	NCI-TCGA
FIGN	Q5HY92	p.Ser92Leu	COSM5860400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611557G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ser92Pro	rs1331398269	missense variant	-	NC_000002.12:g.163611558A>G	gnomAD
FIGN	Q5HY92	p.Val99Ala	rs1032104388	missense variant	-	NC_000002.12:g.163611536A>G	TOPMed
FIGN	Q5HY92	p.Gly101Asp	rs372470274	missense variant	-	NC_000002.12:g.163611530C>T	ESP,TOPMed
FIGN	Q5HY92	p.Gly101Ser	rs1306783524	missense variant	-	NC_000002.12:g.163611531C>T	TOPMed
FIGN	Q5HY92	p.Arg102Gln	rs778596686	missense variant	-	NC_000002.12:g.163611527C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Glu105Gln	rs367851778	missense variant	-	NC_000002.12:g.163611519C>G	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Glu107Lys	COSM717165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611513C>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Glu107Gln	rs976658829	missense variant	-	NC_000002.12:g.163611513C>G	gnomAD
FIGN	Q5HY92	p.Pro108Leu	rs753130928	missense variant	-	NC_000002.12:g.163611509G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Pro108His	rs753130928	missense variant	-	NC_000002.12:g.163611509G>T	ExAC,gnomAD
FIGN	Q5HY92	p.Ser112Ala	rs1254127961	missense variant	-	NC_000002.12:g.163611498A>C	gnomAD
FIGN	Q5HY92	p.Ser115Pro	rs1230197100	missense variant	-	NC_000002.12:g.163611489A>G	TOPMed
FIGN	Q5HY92	p.Ala117Thr	rs528157365	missense variant	-	NC_000002.12:g.163611483C>T	1000Genomes,ExAC,gnomAD
FIGN	Q5HY92	p.Val118Phe	rs762958449	missense variant	-	NC_000002.12:g.163611480C>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val118Ile	rs762958449	missense variant	-	NC_000002.12:g.163611480C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Tyr119Cys	rs773212800	missense variant	-	NC_000002.12:g.163611476T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Pro120Leu	rs1203089862	missense variant	-	NC_000002.12:g.163611473G>A	TOPMed
FIGN	Q5HY92	p.Pro120Ala	rs768613569	missense variant	-	NC_000002.12:g.163611474G>C	ExAC,gnomAD
FIGN	Q5HY92	p.Met121Ile	rs1351764932	missense variant	-	NC_000002.12:g.163611469C>G	gnomAD
FIGN	Q5HY92	p.Met121Val	rs565712188	missense variant	-	NC_000002.12:g.163611471T>C	1000Genomes,TOPMed,gnomAD
FIGN	Q5HY92	p.Cys123Tyr	rs1443543534	missense variant	-	NC_000002.12:g.163611464C>T	gnomAD
FIGN	Q5HY92	p.Val124Ala	rs746901180	missense variant	-	NC_000002.12:g.163611461A>G	ExAC,gnomAD
FIGN	Q5HY92	p.Pro125Leu	rs375294645	missense variant	-	NC_000002.12:g.163611458G>A	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro125Thr	rs1416543400	missense variant	-	NC_000002.12:g.163611459G>T	gnomAD
FIGN	Q5HY92	p.Asp126Asn	rs201440665	missense variant	-	NC_000002.12:g.163611456C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala133Thr	COSM1129529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611435C>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ala133Val	rs778442875	missense variant	-	NC_000002.12:g.163611434G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala133Gly	rs778442875	missense variant	-	NC_000002.12:g.163611434G>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly134Arg	rs756865194	missense variant	-	NC_000002.12:g.163611432C>T	ExAC
FIGN	Q5HY92	p.Gly134Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611431C>G	NCI-TCGA
FIGN	Q5HY92	p.Ser136Ile	rs141648291	missense variant	-	NC_000002.12:g.163611425C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser136Arg	rs748837717	missense variant	-	NC_000002.12:g.163611426T>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala138Pro	rs980460477	missense variant	-	NC_000002.12:g.163611420C>G	gnomAD
FIGN	Q5HY92	p.Ala138Asp	rs1461625173	missense variant	-	NC_000002.12:g.163611419G>T	gnomAD
FIGN	Q5HY92	p.Leu139Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611417G>T	NCI-TCGA
FIGN	Q5HY92	p.Pro141Ser	rs1241605859	missense variant	-	NC_000002.12:g.163611411G>A	TOPMed,gnomAD
FIGN	Q5HY92	p.Asp143Glu	rs755660389	missense variant	-	NC_000002.12:g.163611403A>T	ExAC,gnomAD
FIGN	Q5HY92	p.Ala146Glu	rs753292312	missense variant	-	NC_000002.12:g.163611395G>T	ExAC,gnomAD
FIGN	Q5HY92	p.Ser147Arg	rs1330844203	missense variant	-	NC_000002.12:g.163611391A>T	gnomAD
FIGN	Q5HY92	p.Ile148Thr	rs755359335	missense variant	-	NC_000002.12:g.163611389A>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ile148Val	rs768060260	missense variant	-	NC_000002.12:g.163611390T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser150Arg	COSM1008430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611384T>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ser150Asn	rs1379021560	missense variant	-	NC_000002.12:g.163611383C>T	gnomAD
FIGN	Q5HY92	p.Pro152Ser	rs900271392	missense variant	-	NC_000002.12:g.163611378G>A	TOPMed,gnomAD
FIGN	Q5HY92	p.Pro152Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611378G>C	NCI-TCGA
FIGN	Q5HY92	p.Pro152Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611377G>A	NCI-TCGA
FIGN	Q5HY92	p.Gly153Val	rs970392597	missense variant	-	NC_000002.12:g.163611374C>A	TOPMed
FIGN	Q5HY92	p.Val154Leu	rs1455092653	missense variant	-	NC_000002.12:g.163611372C>A	gnomAD
FIGN	Q5HY92	p.Ser156Asn	rs1203928248	missense variant	-	NC_000002.12:g.163611365C>T	gnomAD
FIGN	Q5HY92	p.Thr159Ala	rs766516138	missense variant	-	NC_000002.12:g.163611357T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr159Ile	rs763125224	missense variant	-	NC_000002.12:g.163611356G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Glu160Ter	COSM281165	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163611354C>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ser162Asn	rs773303139	missense variant	-	NC_000002.12:g.163611347C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Ser162Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611347C>A	NCI-TCGA
FIGN	Q5HY92	p.Ser164Leu	rs1411478371	missense variant	-	NC_000002.12:g.163611341G>A	gnomAD
FIGN	Q5HY92	p.Ser165Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611338C>T	NCI-TCGA
FIGN	Q5HY92	p.Ser166Asn	rs775473694	missense variant	-	NC_000002.12:g.163611335C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr167Pro	rs745655105	missense variant	-	NC_000002.12:g.163611333T>G	ExAC,gnomAD
FIGN	Q5HY92	p.Thr167Ser	rs774154423	missense variant	-	NC_000002.12:g.163611332G>C	ExAC,gnomAD
FIGN	Q5HY92	p.Thr167Ala	rs745655105	missense variant	-	NC_000002.12:g.163611333T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Gly169Glu	rs564615111	missense variant	-	NC_000002.12:g.163611326C>T	1000Genomes,ExAC,gnomAD
FIGN	Q5HY92	p.Ser170Asn	rs371190367	missense variant	-	NC_000002.12:g.163611323C>T	ESP,ExAC,gnomAD
FIGN	Q5HY92	p.Thr172Pro	rs777532928	missense variant	-	NC_000002.12:g.163611318T>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr172Ser	rs777532928	missense variant	-	NC_000002.12:g.163611318T>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val173Ile	rs1199742098	missense variant	-	NC_000002.12:g.163611315C>T	TOPMed
FIGN	Q5HY92	p.Ser175Asn	rs747652183	missense variant	-	NC_000002.12:g.163611308C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Ser175Thr	rs747652183	missense variant	-	NC_000002.12:g.163611308C>G	ExAC,gnomAD
FIGN	Q5HY92	p.Leu176Phe	COSM1752079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611306G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Pro181Ser	rs1443984992	missense variant	-	NC_000002.12:g.163611291G>A	TOPMed
FIGN	Q5HY92	p.Gln183Lys	rs1187994920	missense variant	-	NC_000002.12:g.163611285G>T	TOPMed
FIGN	Q5HY92	p.Gln183Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611285G>C	NCI-TCGA
FIGN	Q5HY92	p.Ala186Thr	rs1048552167	missense variant	-	NC_000002.12:g.163611276C>T	TOPMed,gnomAD
FIGN	Q5HY92	p.Tyr189Cys	rs1433371240	missense variant	-	NC_000002.12:g.163611266T>C	gnomAD
FIGN	Q5HY92	p.Gly191Arg	rs1024539546	missense variant	-	NC_000002.12:g.163611261C>T	TOPMed
FIGN	Q5HY92	p.Gly191Glu	rs1289698092	missense variant	-	NC_000002.12:g.163611260C>T	gnomAD
FIGN	Q5HY92	p.Gly191AspPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163611260C>-	NCI-TCGA
FIGN	Q5HY92	p.Leu194Phe	rs1172443343	missense variant	-	NC_000002.12:g.163611250C>A	TOPMed
FIGN	Q5HY92	p.His195Arg	rs758742525	missense variant	-	NC_000002.12:g.163611248T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Ser196Pro	rs750684189	missense variant	-	NC_000002.12:g.163611246A>G	ExAC
FIGN	Q5HY92	p.Tyr198Cys	rs373041263	missense variant	-	NC_000002.12:g.163611239T>C	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gln201His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611229C>G	NCI-TCGA
FIGN	Q5HY92	p.Ala203Val	rs918811302	missense variant	-	NC_000002.12:g.163611224G>A	TOPMed
FIGN	Q5HY92	p.Ala205Val	rs767385435	missense variant	-	NC_000002.12:g.163611218G>A	ExAC
FIGN	Q5HY92	p.Pro209Ser	rs982133905	missense variant	-	NC_000002.12:g.163611207G>A	TOPMed
FIGN	Q5HY92	p.Pro211Ser	rs199566193	missense variant	-	NC_000002.12:g.163611201G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro211Leu	rs770886664	missense variant	-	NC_000002.12:g.163611200G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro213Leu	rs1232608017	missense variant	-	NC_000002.12:g.163611194G>A	TOPMed
FIGN	Q5HY92	p.Leu214Trp	rs1247947406	missense variant	-	NC_000002.12:g.163611191A>C	gnomAD
FIGN	Q5HY92	p.His215Tyr	COSM1008428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611189G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.His215Arg	COSM4919983	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611188T>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Gly218Glu	rs1360727143	missense variant	-	NC_000002.12:g.163611179C>T	gnomAD
FIGN	Q5HY92	p.Gly218Arg	rs769516578	missense variant	-	NC_000002.12:g.163611180C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Pro222Ser	rs769068467	missense variant	-	NC_000002.12:g.163611168G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Pro223Ser	rs780396169	missense variant	-	NC_000002.12:g.163611165G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro224Ser	rs1248118142	missense variant	-	NC_000002.12:g.163611162G>A	TOPMed
FIGN	Q5HY92	p.Pro224Arg	rs1304959170	missense variant	-	NC_000002.12:g.163611161G>C	gnomAD
FIGN	Q5HY92	p.Pro224HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163611163T>-	NCI-TCGA
FIGN	Q5HY92	p.Pro228Ser	rs1405642810	missense variant	-	NC_000002.12:g.163611150G>A	gnomAD
FIGN	Q5HY92	p.Pro228Leu	rs750774041	missense variant	-	NC_000002.12:g.163611149G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro229Ser	COSM6088146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611147G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Pro234Arg	rs1373417566	missense variant	-	NC_000002.12:g.163611131G>C	gnomAD
FIGN	Q5HY92	p.Gly235Ser	rs764281031	missense variant	-	NC_000002.12:g.163611129C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Tyr236Cys	rs1199452359	missense variant	-	NC_000002.12:g.163611125T>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Asn237His	rs1482458674	missense variant	-	NC_000002.12:g.163611123T>G	gnomAD
FIGN	Q5HY92	p.Asn237Ser	rs751576888	missense variant	-	NC_000002.12:g.163611122T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser240Phe	COSM1008427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611113G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Asn241Lys	rs1481938625	missense variant	-	NC_000002.12:g.163611109G>T	gnomAD
FIGN	Q5HY92	p.Asn241Ser	rs1422579720	missense variant	-	NC_000002.12:g.163611110T>C	gnomAD
FIGN	Q5HY92	p.Asn241Asp	rs1203598241	missense variant	-	NC_000002.12:g.163611111T>C	gnomAD
FIGN	Q5HY92	p.Ser244Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611100A>C	NCI-TCGA
FIGN	Q5HY92	p.Ser244Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611102T>G	NCI-TCGA
FIGN	Q5HY92	p.Ser246Cys	rs1232990279	missense variant	-	NC_000002.12:g.163611096T>A	gnomAD
FIGN	Q5HY92	p.Pro248Ser	COSM4507309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611090G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Pro248Arg	rs375057438	missense variant	-	NC_000002.12:g.163611089G>C	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro248Gln	rs375057438	missense variant	-	NC_000002.12:g.163611089G>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro248Ala	rs1285452631	missense variant	-	NC_000002.12:g.163611090G>C	gnomAD
FIGN	Q5HY92	p.Ala250Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611083G>T	NCI-TCGA
FIGN	Q5HY92	p.Tyr252Cys	rs761480208	missense variant	-	NC_000002.12:g.163611077T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Pro254Ala	rs1301988255	missense variant	-	NC_000002.12:g.163611072G>C	gnomAD
FIGN	Q5HY92	p.Gln255Glu	rs768254432	missense variant	-	NC_000002.12:g.163611069G>C	ExAC,gnomAD
FIGN	Q5HY92	p.Val258Met	rs1472087160	missense variant	-	NC_000002.12:g.163611060C>T	gnomAD
FIGN	Q5HY92	p.Val258Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611059A>G	NCI-TCGA
FIGN	Q5HY92	p.Gly259Arg	rs1183439105	missense variant	-	NC_000002.12:g.163611057C>T	gnomAD
FIGN	Q5HY92	p.Gly259Glu	rs1421326928	missense variant	-	NC_000002.12:g.163611056C>T	gnomAD
FIGN	Q5HY92	p.Tyr262Asn	rs1482463934	missense variant	-	NC_000002.12:g.163611048A>T	gnomAD
FIGN	Q5HY92	p.Ser263Asn	rs1265441933	missense variant	-	NC_000002.12:g.163611044C>T	gnomAD
FIGN	Q5HY92	p.Pro264Ser	rs746263204	missense variant	-	NC_000002.12:g.163611042G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Pro264His	rs1287493582	missense variant	-	NC_000002.12:g.163611041G>T	TOPMed
FIGN	Q5HY92	p.Gly265Trp	rs936402063	missense variant	-	NC_000002.12:g.163611039C>A	gnomAD
FIGN	Q5HY92	p.Gly265Arg	rs936402063	missense variant	-	NC_000002.12:g.163611039C>G	gnomAD
FIGN	Q5HY92	p.Gly265Ala	rs369831057	missense variant	-	NC_000002.12:g.163611038C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly265Glu	rs369831057	missense variant	-	NC_000002.12:g.163611038C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly266Glu	rs1311966717	missense variant	-	NC_000002.12:g.163611035C>T	gnomAD
FIGN	Q5HY92	p.Gly266Arg	rs752658889	missense variant	-	NC_000002.12:g.163611036C>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly266Arg	rs752658889	missense variant	-	NC_000002.12:g.163611036C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala267Thr	rs1394257020	missense variant	-	NC_000002.12:g.163611033C>T	gnomAD
FIGN	Q5HY92	p.Ala267Pro	rs1394257020	missense variant	-	NC_000002.12:g.163611033C>G	gnomAD
FIGN	Q5HY92	p.Ala267GlyPheSerTerUnkUnkUnk	rs755527396	frameshift	-	NC_000002.12:g.163611032_163611033insC	NCI-TCGA,NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ala267HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163611033C>-	NCI-TCGA
FIGN	Q5HY92	p.Pro268Leu	rs1446938386	missense variant	-	NC_000002.12:g.163611029G>A	TOPMed,gnomAD
FIGN	Q5HY92	p.Pro270Ser	COSM441334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163611024G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Pro270Leu	rs576789489	missense variant	-	NC_000002.12:g.163611023G>A	1000Genomes,ExAC,gnomAD
FIGN	Q5HY92	p.Pro270Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163611023G>T	NCI-TCGA
FIGN	Q5HY92	p.Pro271Ser	rs765176044	missense variant	-	NC_000002.12:g.163611021G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Ala273Thr	rs900157979	missense variant	-	NC_000002.12:g.163611015C>T	TOPMed
FIGN	Q5HY92	p.Ala273Val	rs761484365	missense variant	-	NC_000002.12:g.163611014G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Tyr274His	rs556976192	missense variant	-	NC_000002.12:g.163611012A>G	1000Genomes,ExAC,gnomAD
FIGN	Q5HY92	p.Leu275CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163611009G>-	NCI-TCGA
FIGN	Q5HY92	p.Gly278Val	rs774939888	missense variant	-	NC_000002.12:g.163610999C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Pro280Leu	rs1392886714	missense variant	-	NC_000002.12:g.163610993G>A	TOPMed
FIGN	Q5HY92	p.Pro282His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610987G>T	NCI-TCGA
FIGN	Q5HY92	p.Thr283Ala	rs1348548916	missense variant	-	NC_000002.12:g.163610985T>C	TOPMed
FIGN	Q5HY92	p.Thr283Pro	rs1348548916	missense variant	-	NC_000002.12:g.163610985T>G	TOPMed
FIGN	Q5HY92	p.Pro284Ala	rs1282455307	missense variant	-	NC_000002.12:g.163610982G>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Pro284Arg	rs866216827	missense variant	-	NC_000002.12:g.163610981G>C	TOPMed
FIGN	Q5HY92	p.Pro284Leu	rs866216827	missense variant	-	NC_000002.12:g.163610981G>A	TOPMed
FIGN	Q5HY92	p.Leu285TyrPheSerTerUnkUnk	COSM3311670	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163610979G>-	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Leu285Pro	rs868215567	missense variant	-	NC_000002.12:g.163610978A>G	TOPMed
FIGN	Q5HY92	p.Pro287Ser	rs1482348264	missense variant	-	NC_000002.12:g.163610973G>A	TOPMed
FIGN	Q5HY92	p.Thr288Pro	rs1384985861	missense variant	-	NC_000002.12:g.163610970T>G	TOPMed,gnomAD
FIGN	Q5HY92	p.Thr288Ala	rs1384985861	missense variant	-	NC_000002.12:g.163610970T>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Thr288HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163610970_163610971insG	NCI-TCGA
FIGN	Q5HY92	p.Thr288ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163610971G>-	NCI-TCGA
FIGN	Q5HY92	p.Thr289Ala	rs778065250	missense variant	-	NC_000002.12:g.163610967T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Thr289Pro	rs778065250	missense variant	-	NC_000002.12:g.163610967T>G	ExAC,gnomAD
FIGN	Q5HY92	p.Val290Leu	rs1331167886	missense variant	-	NC_000002.12:g.163610964C>G	gnomAD
FIGN	Q5HY92	p.Pro291Thr	rs756227042	missense variant	-	NC_000002.12:g.163610961G>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly292Ser	rs748294735	missense variant	-	NC_000002.12:g.163610958C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Tyr295Cys	rs1370400527	missense variant	-	NC_000002.12:g.163610948T>C	TOPMed
FIGN	Q5HY92	p.Gln296Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.163610946G>A	NCI-TCGA
FIGN	Q5HY92	p.Gly297Cys	COSM717167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610943C>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Gly297Val	rs750427873	missense variant	-	NC_000002.12:g.163610942C>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly297Ala	rs750427873	missense variant	-	NC_000002.12:g.163610942C>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly297Asp	rs750427873	missense variant	-	NC_000002.12:g.163610942C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.His298Tyr	rs371778587	missense variant	-	NC_000002.12:g.163610940G>A	ESP,ExAC,gnomAD
FIGN	Q5HY92	p.His298Arg	rs757133510	missense variant	-	NC_000002.12:g.163610939T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.His298Leu	rs757133510	missense variant	-	NC_000002.12:g.163610939T>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro302Ser	rs199810876	missense variant	-	NC_000002.12:g.163610928G>A	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro302Leu	rs1449280108	missense variant	-	NC_000002.12:g.163610927G>A	gnomAD
FIGN	Q5HY92	p.Ile303Val	rs763838524	missense variant	-	NC_000002.12:g.163610925T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala304Thr	rs760195152	missense variant	-	NC_000002.12:g.163610922C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Ala307Val	rs1308361820	missense variant	-	NC_000002.12:g.163610912G>A	TOPMed,gnomAD
FIGN	Q5HY92	p.Leu308Val	COSM717168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610910G>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Leu308Met	rs1220352513	missense variant	-	NC_000002.12:g.163610910G>T	gnomAD
FIGN	Q5HY92	p.Asn310Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610902G>C	NCI-TCGA
FIGN	Q5HY92	p.Ser311Asn	rs759038968	missense variant	-	NC_000002.12:g.163610900C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala313Thr	rs774892657	missense variant	-	NC_000002.12:g.163610895C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala313Ser	rs774892657	missense variant	-	NC_000002.12:g.163610895C>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser314Ile	rs771282061	missense variant	-	NC_000002.12:g.163610891C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Ser314Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610892T>C	NCI-TCGA
FIGN	Q5HY92	p.Ser315Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610888G>T	NCI-TCGA
FIGN	Q5HY92	p.Ser315Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610888G>A	NCI-TCGA
FIGN	Q5HY92	p.Leu316Phe	rs749664782	missense variant	-	NC_000002.12:g.163610886G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Lys317Arg	rs1431008454	missense variant	-	NC_000002.12:g.163610882T>C	gnomAD
FIGN	Q5HY92	p.Ala320Pro	rs201797837	missense variant	-	NC_000002.12:g.163610874C>G	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala320Thr	rs201797837	missense variant	-	NC_000002.12:g.163610874C>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Tyr322Phe	rs770080369	missense variant	-	NC_000002.12:g.163610867T>A	ExAC,gnomAD
FIGN	Q5HY92	p.Met323Val	rs762970125	missense variant	-	NC_000002.12:g.163610865T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly325Trp	COSM717169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610859C>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Gly325Glu	rs201111311	missense variant	-	NC_000002.12:g.163610858C>T	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly327Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610852C>G	NCI-TCGA
FIGN	Q5HY92	p.Asp328Asn	rs925358153	missense variant	-	NC_000002.12:g.163610850C>T	TOPMed
FIGN	Q5HY92	p.Asp328Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163610850_163610851insA	NCI-TCGA
FIGN	Q5HY92	p.Met329Val	rs757076772	missense variant	-	NC_000002.12:g.163610847T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Met329Ile	rs763841914	missense variant	-	NC_000002.12:g.163610845C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Met329Thr	rs201919385	missense variant	-	NC_000002.12:g.163610846A>G	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Asp330Tyr	COSM717170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610844C>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ser332Ile	rs1269743075	missense variant	-	NC_000002.12:g.163610837C>A	gnomAD
FIGN	Q5HY92	p.Ser332Gly	rs755906822	missense variant	-	NC_000002.12:g.163610838T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Gly334Val	rs1358504373	missense variant	-	NC_000002.12:g.163610831C>A	TOPMed
FIGN	Q5HY92	p.Gly334Ter	rs1171128818	stop gained	-	NC_000002.12:g.163610832C>A	TOPMed
FIGN	Q5HY92	p.Tyr336Ter	rs1304349184	stop gained	-	NC_000002.12:g.163610824G>T	TOPMed
FIGN	Q5HY92	p.Ser337Arg	rs1433850724	missense variant	-	NC_000002.12:g.163610821G>T	TOPMed
FIGN	Q5HY92	p.Ser337Cys	rs1343793790	missense variant	-	NC_000002.12:g.163610823T>A	TOPMed,gnomAD
FIGN	Q5HY92	p.Ser337Thr	rs1281015043	missense variant	-	NC_000002.12:g.163610822C>G	gnomAD
FIGN	Q5HY92	p.Ser337Gly	rs1343793790	missense variant	-	NC_000002.12:g.163610823T>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Tyr338Asp	rs1225013068	missense variant	-	NC_000002.12:g.163610820A>C	gnomAD
FIGN	Q5HY92	p.Gln340Arg	rs901175806	missense variant	-	NC_000002.12:g.163610813T>C	gnomAD
FIGN	Q5HY92	p.Gln340Pro	rs901175806	missense variant	-	NC_000002.12:g.163610813T>G	gnomAD
FIGN	Q5HY92	p.Gln340Glu	rs1439913645	missense variant	-	NC_000002.12:g.163610814G>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Gln340His	rs1276078367	missense variant	-	NC_000002.12:g.163610812T>G	TOPMed
FIGN	Q5HY92	p.Gln341Pro	rs1345575380	missense variant	-	NC_000002.12:g.163610810T>G	gnomAD
FIGN	Q5HY92	p.Ser343Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610804G>T	NCI-TCGA
FIGN	Q5HY92	p.Thr344Ala	rs977916754	missense variant	-	NC_000002.12:g.163610802T>C	TOPMed
FIGN	Q5HY92	p.Thr344Lys	rs767140622	missense variant	-	NC_000002.12:g.163610801G>T	ExAC,gnomAD
FIGN	Q5HY92	p.Gln345Leu	rs1410900930	missense variant	-	NC_000002.12:g.163610798T>A	gnomAD
FIGN	Q5HY92	p.Ser346Cys	rs1284602103	missense variant	-	NC_000002.12:g.163610796T>A	gnomAD
FIGN	Q5HY92	p.Met348Val	rs759057543	missense variant	-	NC_000002.12:g.163610790T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Tyr349Phe	rs182427881	missense variant	-	NC_000002.12:g.163610786T>A	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Tyr349His	rs1221635526	missense variant	-	NC_000002.12:g.163610787A>G	gnomAD
FIGN	Q5HY92	p.Arg350Lys	rs1481569711	missense variant	-	NC_000002.12:g.163610783C>T	gnomAD
FIGN	Q5HY92	p.Met351Val	rs1265329633	missense variant	-	NC_000002.12:g.163610781T>C	TOPMed
FIGN	Q5HY92	p.Met351Ile	rs1461946308	missense variant	-	NC_000002.12:g.163610779C>T	TOPMed
FIGN	Q5HY92	p.Asp353Asn	rs766943714	missense variant	-	NC_000002.12:g.163610775C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Asn354Ser	rs763323004	missense variant	-	NC_000002.12:g.163610771T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Ser355Gly	rs1204911506	missense variant	-	NC_000002.12:g.163610769T>C	gnomAD
FIGN	Q5HY92	p.Ser357Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610762G>A	NCI-TCGA
FIGN	Q5HY92	p.Asn358Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610760T>C	NCI-TCGA
FIGN	Q5HY92	p.Thr359Ser	rs1441603373	missense variant	-	NC_000002.12:g.163610757T>A	gnomAD
FIGN	Q5HY92	p.Arg361Trp	rs1205155374	missense variant	-	NC_000002.12:g.163610751G>A	TOPMed,gnomAD
FIGN	Q5HY92	p.Arg361Gln	rs770100326	missense variant	-	NC_000002.12:g.163610750C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg361Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610750C>A	NCI-TCGA
FIGN	Q5HY92	p.Asn363Ser	rs777052461	missense variant	-	NC_000002.12:g.163610744T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Asn363Lys	rs747092129	missense variant	-	NC_000002.12:g.163610743A>T	ExAC,gnomAD
FIGN	Q5HY92	p.Phe365Leu	rs779948328	missense variant	-	NC_000002.12:g.163610737A>T	ExAC,gnomAD
FIGN	Q5HY92	p.Asp366Gly	rs772167659	missense variant	-	NC_000002.12:g.163610735T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Asp366Ala	rs772167659	missense variant	-	NC_000002.12:g.163610735T>G	ExAC,gnomAD
FIGN	Q5HY92	p.Ser368Gly	rs1335225245	missense variant	-	NC_000002.12:g.163610730T>C	gnomAD
FIGN	Q5HY92	p.Ala369Thr	rs749223662	missense variant	-	NC_000002.12:g.163610727C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Ser372Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610717G>A	NCI-TCGA
FIGN	Q5HY92	p.Ser372Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.163610717G>C	NCI-TCGA
FIGN	Q5HY92	p.Ser373Tyr	rs1054122780	missense variant	-	NC_000002.12:g.163610714G>T	gnomAD
FIGN	Q5HY92	p.Ser373Pro	rs376287623	missense variant	-	NC_000002.12:g.163610715A>G	ESP
FIGN	Q5HY92	p.Leu374Ser	rs1410313294	missense variant	-	NC_000002.12:g.163610711A>G	gnomAD
FIGN	Q5HY92	p.Phe376Cys	COSM1008425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610705A>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Lys377Glu	COSM287659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610703T>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Lys377Arg	rs1177694002	missense variant	-	NC_000002.12:g.163610702T>C	gnomAD
FIGN	Q5HY92	p.Pro378Ser	rs752427253	missense variant	-	NC_000002.12:g.163610700G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Thr379Met	rs1327147379	missense variant	-	NC_000002.12:g.163610696G>A	gnomAD
FIGN	Q5HY92	p.Thr379Ser	rs1430870590	missense variant	-	NC_000002.12:g.163610697T>A	TOPMed
FIGN	Q5HY92	p.Gln381Pro	rs751095260	missense variant	-	NC_000002.12:g.163610690T>G	ExAC,gnomAD
FIGN	Q5HY92	p.Gln381His	rs762497517	missense variant	-	NC_000002.12:g.163610689C>G	ExAC,gnomAD
FIGN	Q5HY92	p.Gln381His	rs762497517	missense variant	-	NC_000002.12:g.163610689C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Met383Thr	rs765762490	missense variant	-	NC_000002.12:g.163610684A>G	ExAC,gnomAD
FIGN	Q5HY92	p.Ser384Thr	rs917585173	missense variant	-	NC_000002.12:g.163610682A>T	gnomAD
FIGN	Q5HY92	p.Gln387Glu	rs374676137	missense variant	-	NC_000002.12:g.163610673G>C	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gln388His	rs769032192	missense variant	-	NC_000002.12:g.163610668T>G	ExAC,gnomAD
FIGN	Q5HY92	p.Ser392Thr	rs775748194	missense variant	-	NC_000002.12:g.163610657C>G	ExAC,gnomAD
FIGN	Q5HY92	p.Ser392Arg	rs1428947870	missense variant	-	NC_000002.12:g.163610658T>G	gnomAD
FIGN	Q5HY92	p.Gln394His	rs1160003148	missense variant	-	NC_000002.12:g.163610650C>G	TOPMed,gnomAD
FIGN	Q5HY92	p.Gln394Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.163610652G>A	NCI-TCGA
FIGN	Q5HY92	p.Ser395Phe	rs772109899	missense variant	-	NC_000002.12:g.163610648G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Ser396Gly	rs370402484	missense variant	-	NC_000002.12:g.163610646T>C	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser396Asn	rs1479745085	missense variant	-	NC_000002.12:g.163610645C>T	gnomAD
FIGN	Q5HY92	p.Ala398Val	rs769648766	missense variant	-	NC_000002.12:g.163610639G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala398Thr	rs1247226549	missense variant	-	NC_000002.12:g.163610640C>T	gnomAD
FIGN	Q5HY92	p.Leu399Met	rs1486675750	missense variant	-	NC_000002.12:g.163610637G>T	gnomAD
FIGN	Q5HY92	p.Thr400Ile	COSM441333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610633G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Thr400Asn	rs1242122298	missense variant	-	NC_000002.12:g.163610633G>T	gnomAD
FIGN	Q5HY92	p.Pro401Ala	rs747965881	missense variant	-	NC_000002.12:g.163610631G>C	ExAC,gnomAD
FIGN	Q5HY92	p.Pro402Ser	COSM1528572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610628G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Pro402Ala	rs780920220	missense variant	-	NC_000002.12:g.163610628G>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro402Leu	rs1290259645	missense variant	-	NC_000002.12:g.163610627G>A	TOPMed,gnomAD
FIGN	Q5HY92	p.Ser405Gly	rs1295390055	missense variant	-	NC_000002.12:g.163610619T>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Thr406Ala	rs1213026472	missense variant	-	NC_000002.12:g.163610616T>C	gnomAD
FIGN	Q5HY92	p.Ala407Thr	rs962029287	missense variant	-	NC_000002.12:g.163610613C>T	TOPMed
FIGN	Q5HY92	p.Ser410Leu	rs1364352446	missense variant	-	NC_000002.12:g.163610603G>A	gnomAD
FIGN	Q5HY92	p.Gly412Arg	rs368281111	missense variant	-	NC_000002.12:g.163610598C>T	1000Genomes,ExAC,gnomAD
FIGN	Q5HY92	p.Arg414Ile	rs765845944	missense variant	-	NC_000002.12:g.163610591C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Ser416Asn	rs1168139432	missense variant	-	NC_000002.12:g.163610585C>T	gnomAD
FIGN	Q5HY92	p.Ser416Cys	rs1372273939	missense variant	-	NC_000002.12:g.163610586T>A	gnomAD
FIGN	Q5HY92	p.Ser418Cys	rs754373405	missense variant	-	NC_000002.12:g.163610579G>C	ExAC,gnomAD
FIGN	Q5HY92	p.Phe419Tyr	rs761115381	missense variant	-	NC_000002.12:g.163610576A>T	ExAC,gnomAD
FIGN	Q5HY92	p.Gly420Val	COSM717174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610573C>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Gly420Trp	COSM717172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610574C>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Gly420Arg	rs1489621818	missense variant	-	NC_000002.12:g.163610574C>T	gnomAD
FIGN	Q5HY92	p.Gly420Glu	rs1270474716	missense variant	-	NC_000002.12:g.163610573C>T	TOPMed,gnomAD
FIGN	Q5HY92	p.Lys421Asn	rs190208457	missense variant	-	NC_000002.12:g.163610569C>G	1000Genomes,ExAC,TOPMed
FIGN	Q5HY92	p.Lys421Arg	rs1156642059	missense variant	-	NC_000002.12:g.163610570T>C	TOPMed
FIGN	Q5HY92	p.Tyr422His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610568A>G	NCI-TCGA
FIGN	Q5HY92	p.Val426Leu	rs759535055	missense variant	-	NC_000002.12:g.163610556C>G	ExAC,gnomAD
FIGN	Q5HY92	p.Val426Ala	COSM1008424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610555A>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Val426Leu	rs759535055	missense variant	-	NC_000002.12:g.163610556C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Met427Ile	COSM5058190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610551C>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Met427Ile	rs1309430688	missense variant	-	NC_000002.12:g.163610551C>A	gnomAD
FIGN	Q5HY92	p.His430Pro	rs1296598887	missense variant	-	NC_000002.12:g.163610543T>G	gnomAD
FIGN	Q5HY92	p.Gly431Val	COSM4086053	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610540C>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Gly431Ala	rs748135782	missense variant	-	NC_000002.12:g.163610540C>G	ExAC,gnomAD
FIGN	Q5HY92	p.Gly431Trp	rs1343693546	missense variant	-	NC_000002.12:g.163610541C>A	gnomAD
FIGN	Q5HY92	p.Glu433Lys	rs147892601	missense variant	-	NC_000002.12:g.163610535C>T	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.His434Gln	rs1201164096	missense variant	-	NC_000002.12:g.163610530G>C	TOPMed,gnomAD
FIGN	Q5HY92	p.His434Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.163610529_163610530insTCA	NCI-TCGA
FIGN	Q5HY92	p.His434GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163610530_163610531insGAATTCC	NCI-TCGA
FIGN	Q5HY92	p.Gln436Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610526G>T	NCI-TCGA
FIGN	Q5HY92	p.Leu437Phe	rs779586480	missense variant	-	NC_000002.12:g.163610523G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Ser439Cys	rs145250494	missense variant	-	NC_000002.12:g.163610516G>C	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser439Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610516G>T	NCI-TCGA
FIGN	Q5HY92	p.Pro441Thr	COSM70782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610511G>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Met442Leu	rs186030983	missense variant	-	NC_000002.12:g.163610508T>G	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Met442Ile	rs756795961	missense variant	-	NC_000002.12:g.163610506C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Met442Val	rs186030983	missense variant	-	NC_000002.12:g.163610508T>C	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Met442Ile	rs756795961	missense variant	-	NC_000002.12:g.163610506C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Met442Leu	rs186030983	missense variant	-	NC_000002.12:g.163610508T>A	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly444Asp	rs754461348	missense variant	-	NC_000002.12:g.163610501C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Pro445Ser	rs897338033	missense variant	-	NC_000002.12:g.163610499G>A	TOPMed
FIGN	Q5HY92	p.Gly446Glu	rs756447748	missense variant	-	NC_000002.12:g.163610495C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Leu447Arg	rs1225361214	missense variant	-	NC_000002.12:g.163610492A>C	gnomAD
FIGN	Q5HY92	p.Arg448His	rs774416656	missense variant	-	NC_000002.12:g.163610489C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg448Cys	rs2231904	missense variant	-	NC_000002.12:g.163610490G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala449Thr	rs1046963595	missense variant	-	NC_000002.12:g.163610487C>T	TOPMed
FIGN	Q5HY92	p.Ala449Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610486G>T	NCI-TCGA
FIGN	Q5HY92	p.Ala450Val	rs1481804173	missense variant	-	NC_000002.12:g.163610483G>A	gnomAD
FIGN	Q5HY92	p.Ser453Phe	COSM3568622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610474G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ser456Phe	COSM4847972	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610465G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Asp458Glu	rs769689570	missense variant	-	NC_000002.12:g.163610458G>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Asp458Asn	rs766488624	missense variant	-	NC_000002.12:g.163610460C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Asp458Glu	rs769689570	missense variant	-	NC_000002.12:g.163610458G>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Glu459Lys	rs745997168	missense variant	-	NC_000002.12:g.163610457C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gln460Arg	rs746785083	missense variant	-	NC_000002.12:g.163610453T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gln460Pro	rs746785083	missense variant	-	NC_000002.12:g.163610453T>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Leu461Gln	rs776681297	missense variant	-	NC_000002.12:g.163610450A>T	TOPMed,gnomAD
FIGN	Q5HY92	p.Asp465Glu	rs745572184	missense variant	-	NC_000002.12:g.163610437G>C	ExAC,gnomAD
FIGN	Q5HY92	p.Thr466Arg	rs778703088	missense variant	-	NC_000002.12:g.163610435G>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr466Met	rs778703088	missense variant	-	NC_000002.12:g.163610435G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr466Ala	rs1335914206	missense variant	-	NC_000002.12:g.163610436T>C	gnomAD
FIGN	Q5HY92	p.His467Asn	rs778425185	missense variant	-	NC_000002.12:g.163610433G>T	ExAC,gnomAD
FIGN	Q5HY92	p.His467Arg	rs771253695	missense variant	-	NC_000002.12:g.163610432T>C	TOPMed
FIGN	Q5HY92	p.His467Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610433G>A	NCI-TCGA
FIGN	Q5HY92	p.Leu468Val	rs372466697	missense variant	-	NC_000002.12:g.163610430G>C	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Leu468Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610430G>A	NCI-TCGA
FIGN	Q5HY92	p.Asp470Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610422G>T	NCI-TCGA
FIGN	Q5HY92	p.Thr473Pro	COSM281164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610415T>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Thr473Ile	rs368825488	missense variant	-	NC_000002.12:g.163610414G>A	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr473Asn	rs368825488	missense variant	-	NC_000002.12:g.163610414G>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Asn474Thr	rs925409571	missense variant	-	NC_000002.12:g.163610411T>G	TOPMed,gnomAD
FIGN	Q5HY92	p.Asn474Asp	rs1239169513	missense variant	-	NC_000002.12:g.163610412T>C	gnomAD
FIGN	Q5HY92	p.Glu475Ala	COSM4086052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610408T>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Glu475Val	rs1460111191	missense variant	-	NC_000002.12:g.163610408T>A	gnomAD
FIGN	Q5HY92	p.Glu475Lys	rs751848395	missense variant	-	NC_000002.12:g.163610409C>T	ExAC
FIGN	Q5HY92	p.Glu475Asp	rs766578615	missense variant	-	NC_000002.12:g.163610407C>G	ExAC,gnomAD
FIGN	Q5HY92	p.Ile476Ser	COSM275172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610405A>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Gln479Arg	rs750435900	missense variant	-	NC_000002.12:g.163610396T>C	ExAC
FIGN	Q5HY92	p.Pro481His	COSM1008423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610390G>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Pro481Leu	rs1350015216	missense variant	-	NC_000002.12:g.163610390G>A	TOPMed,gnomAD
FIGN	Q5HY92	p.Asp484His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610382C>G	NCI-TCGA
FIGN	Q5HY92	p.Trp485Arg	rs1438253177	missense variant	-	NC_000002.12:g.163610379A>G	TOPMed
FIGN	Q5HY92	p.Asn486Ser	rs763970575	missense variant	-	NC_000002.12:g.163610375T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Ile488Val	rs1317446886	missense variant	-	NC_000002.12:g.163610370T>C	gnomAD
FIGN	Q5HY92	p.Asp492Asn	rs759236740	missense variant	-	NC_000002.12:g.163610358C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala496Ser	rs748833902	missense variant	-	NC_000002.12:g.163610346C>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala496Pro	rs748833902	missense variant	-	NC_000002.12:g.163610346C>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val497Ile	rs777365899	missense variant	-	NC_000002.12:g.163610343C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Ile498Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610339A>C	NCI-TCGA
FIGN	Q5HY92	p.Lys499Glu	rs1381490246	missense variant	-	NC_000002.12:g.163610337T>C	gnomAD
FIGN	Q5HY92	p.Glu500Gly	rs377719119	missense variant	-	NC_000002.12:g.163610333T>C	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Glu500Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.163610334C>A	NCI-TCGA
FIGN	Q5HY92	p.Glu501Gly	rs748727733	missense variant	-	NC_000002.12:g.163610330T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Pro505Leu	rs1166718690	missense variant	-	NC_000002.12:g.163610318G>A	TOPMed
FIGN	Q5HY92	p.Pro505Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610318G>T	NCI-TCGA
FIGN	Q5HY92	p.Val506Leu	rs1245407673	missense variant	-	NC_000002.12:g.163610316C>G	gnomAD
FIGN	Q5HY92	p.Val506Gly	rs1399252629	missense variant	-	NC_000002.12:g.163610315A>C	TOPMed
FIGN	Q5HY92	p.Leu507Phe	rs755431949	missense variant	-	NC_000002.12:g.163610311C>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg508Gly	rs1259662024	missense variant	-	NC_000002.12:g.163610310T>C	gnomAD
FIGN	Q5HY92	p.Ser509Ter	COSM3837186	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163610306G>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ser509Leu	rs374655005	missense variant	-	NC_000002.12:g.163610306G>A	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser509Pro	rs751868471	missense variant	-	NC_000002.12:g.163610307A>G	ExAC,gnomAD
FIGN	Q5HY92	p.Asp510Glu	rs558707951	missense variant	-	NC_000002.12:g.163610302G>C	1000Genomes,ExAC,gnomAD
FIGN	Q5HY92	p.Ala511Pro	rs200358782	missense variant	-	NC_000002.12:g.163610301C>G	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala511Thr	rs200358782	missense variant	-	NC_000002.12:g.163610301C>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala511Val	rs182737096	missense variant	-	NC_000002.12:g.163610300G>A	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala511Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610301C>A	NCI-TCGA
FIGN	Q5HY92	p.Thr516Met	rs774244177	missense variant	-	NC_000002.12:g.163610285G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro519Ser	rs772707463	missense variant	-	NC_000002.12:g.163610277G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro519Ala	rs772707463	missense variant	-	NC_000002.12:g.163610277G>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro519Thr	rs772707463	missense variant	-	NC_000002.12:g.163610277G>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg520Trp	rs747600819	missense variant	-	NC_000002.12:g.163610274G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg520Gln	rs781730895	missense variant	-	NC_000002.12:g.163610273C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Leu523Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610265G>T	NCI-TCGA
FIGN	Q5HY92	p.Leu524Phe	rs569585288	missense variant	-	NC_000002.12:g.163610260T>A	1000Genomes
FIGN	Q5HY92	p.Arg528Leu	rs780348332	missense variant	-	NC_000002.12:g.163610249C>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg528Trp	rs768982332	missense variant	-	NC_000002.12:g.163610250G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg528Gln	rs780348332	missense variant	-	NC_000002.12:g.163610249C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg528GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163610249_163610250insT	NCI-TCGA
FIGN	Q5HY92	p.Gly529Trp	COSM6154546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610247C>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Thr530GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163610245C>-	NCI-TCGA
FIGN	Q5HY92	p.Thr530Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610244T>C	NCI-TCGA
FIGN	Q5HY92	p.Thr533Ser	COSM717176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610235T>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Leu534Ser	rs1460528032	missense variant	-	NC_000002.12:g.163610231A>G	gnomAD
FIGN	Q5HY92	p.Leu535Val	rs1478173225	missense variant	-	NC_000002.12:g.163610229A>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Gly536Cys	rs1268336530	missense variant	-	NC_000002.12:g.163610226C>A	TOPMed,gnomAD
FIGN	Q5HY92	p.Arg537Gly	rs1220145280	missense variant	-	NC_000002.12:g.163610223T>C	gnomAD
FIGN	Q5HY92	p.Cys538Arg	rs1490839889	missense variant	-	NC_000002.12:g.163610220A>G	gnomAD
FIGN	Q5HY92	p.Cys538Trp	rs971114703	missense variant	-	NC_000002.12:g.163610218G>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Ala540Thr	rs202196057	missense variant	-	NC_000002.12:g.163610214C>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala540Ser	rs202196057	missense variant	-	NC_000002.12:g.163610214C>A	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser541Thr	rs372484991	missense variant	-	NC_000002.12:g.163610210C>G	ESP,ExAC,gnomAD
FIGN	Q5HY92	p.Ser541Gly	rs779607837	missense variant	-	NC_000002.12:g.163610211T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser541Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610210C>T	NCI-TCGA
FIGN	Q5HY92	p.Gln542His	rs1344303905	missense variant	-	NC_000002.12:g.163610206C>G	gnomAD
FIGN	Q5HY92	p.Ala545Thr	rs1280884046	missense variant	-	NC_000002.12:g.163610199C>T	gnomAD
FIGN	Q5HY92	p.Thr546Ile	rs1232360210	missense variant	-	NC_000002.12:g.163610195G>A	TOPMed
FIGN	Q5HY92	p.Lys549Arg	rs1368014291	missense variant	-	NC_000002.12:g.163610186T>C	gnomAD
FIGN	Q5HY92	p.Lys549Glu	rs755912233	missense variant	-	NC_000002.12:g.163610187T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Lys549Asn	rs369201762	missense variant	-	NC_000002.12:g.163610185T>A	ESP,ExAC,gnomAD
FIGN	Q5HY92	p.Gly552Ser	rs755526237	missense variant	-	NC_000002.12:g.163610178C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly552Arg	rs755526237	missense variant	-	NC_000002.12:g.163610178C>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly552Cys	rs755526237	missense variant	-	NC_000002.12:g.163610178C>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser553Pro	rs895424443	missense variant	-	NC_000002.12:g.163610175A>G	TOPMed
FIGN	Q5HY92	p.Gly554Glu	rs762834705	missense variant	-	NC_000002.12:g.163610171C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Leu555Ile	rs1448083220	missense variant	-	NC_000002.12:g.163610169G>T	TOPMed
FIGN	Q5HY92	p.Val556Asp	COSM1564726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610165A>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ala557Asp	rs192291902	missense variant	-	NC_000002.12:g.163610162G>T	1000Genomes
FIGN	Q5HY92	p.Ala557Thr	rs201166518	missense variant	-	NC_000002.12:g.163610163C>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala557Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610162G>A	NCI-TCGA
FIGN	Q5HY92	p.Lys558Asn	rs1481648150	missense variant	-	NC_000002.12:g.163610158C>G	TOPMed
FIGN	Q5HY92	p.Leu560Ser	rs761395929	missense variant	-	NC_000002.12:g.163610153A>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly561Arg	rs367860574	missense variant	-	NC_000002.12:g.163610151C>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly561Arg	rs367860574	missense variant	-	NC_000002.12:g.163610151C>G	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly561Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610150C>G	NCI-TCGA
FIGN	Q5HY92	p.Glu562Lys	rs187000091	missense variant	-	NC_000002.12:g.163610148C>T	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Glu562Asp	rs1317489386	missense variant	-	NC_000002.12:g.163610146T>G	TOPMed,gnomAD
FIGN	Q5HY92	p.Ala563Thr	rs747565416	missense variant	-	NC_000002.12:g.163610145C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Glu564Asp	rs772482079	missense variant	-	NC_000002.12:g.163610140C>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Glu564Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.163610142C>A	NCI-TCGA
FIGN	Q5HY92	p.Lys565Arg	rs2231905	missense variant	-	NC_000002.12:g.163610138T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ile566Ser	COSM1008421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610135A>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Ile567Phe	rs757380398	missense variant	-	NC_000002.12:g.163610133T>A	ExAC,gnomAD
FIGN	Q5HY92	p.Ile567Val	rs757380398	missense variant	-	NC_000002.12:g.163610133T>C	ExAC,gnomAD
FIGN	Q5HY92	p.His568Tyr	rs1301287532	missense variant	-	NC_000002.12:g.163610130G>A	TOPMed
FIGN	Q5HY92	p.Ala569Gly	rs368686636	missense variant	-	NC_000002.12:g.163610126G>C	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser570Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610123G>T	NCI-TCGA
FIGN	Q5HY92	p.Ala574Ser	rs1466279727	missense variant	-	NC_000002.12:g.163610112C>A	gnomAD
FIGN	Q5HY92	p.Arg575Ser	rs758283927	missense variant	-	NC_000002.12:g.163610107C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Arg577His	rs750122544	missense variant	-	NC_000002.12:g.163610102C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg577Cys	rs1174307306	missense variant	-	NC_000002.12:g.163610103G>A	gnomAD
FIGN	Q5HY92	p.Ser580Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610094A>G	NCI-TCGA
FIGN	Q5HY92	p.Ser585Gly	rs371210704	missense variant	-	NC_000002.12:g.163610079T>C	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Asp586Glu	rs943177115	missense variant	-	NC_000002.12:g.163610074G>T	TOPMed
FIGN	Q5HY92	p.Ile587Thr	rs1468596498	missense variant	-	NC_000002.12:g.163610072A>G	TOPMed,gnomAD
FIGN	Q5HY92	p.Asp588His	COSM441332	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610070C>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Asp588Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610069T>C	NCI-TCGA
FIGN	Q5HY92	p.Met589Ile	rs760175528	missense variant	-	NC_000002.12:g.163610065C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Met589Thr	rs376375162	missense variant	-	NC_000002.12:g.163610066A>G	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Met589Ile	rs760175528	missense variant	-	NC_000002.12:g.163610065C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Met589Val	rs1234326843	missense variant	-	NC_000002.12:g.163610067T>C	gnomAD
FIGN	Q5HY92	p.Leu590Phe	rs374940607	missense variant	-	NC_000002.12:g.163610064G>A	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Leu591Phe	rs951906187	missense variant	-	NC_000002.12:g.163610061G>A	TOPMed
FIGN	Q5HY92	p.Leu591Val	rs951906187	missense variant	-	NC_000002.12:g.163610061G>C	TOPMed
FIGN	Q5HY92	p.Gln594Arg	rs918946939	missense variant	-	NC_000002.12:g.163610051T>C	TOPMed
FIGN	Q5HY92	p.Gln594Lys	rs1223712119	missense variant	-	NC_000002.12:g.163610052G>T	gnomAD
FIGN	Q5HY92	p.Val595Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610049C>A	NCI-TCGA
FIGN	Q5HY92	p.Glu597Gln	rs774530013	missense variant	-	NC_000002.12:g.163610043C>G	ExAC,gnomAD
FIGN	Q5HY92	p.Glu597Lys	rs774530013	missense variant	-	NC_000002.12:g.163610043C>T	ExAC,gnomAD
FIGN	Q5HY92	p.Glu597Gly	rs771300881	missense variant	-	NC_000002.12:g.163610042T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Glu598Gly	rs756945088	missense variant	-	NC_000002.12:g.163610039T>C	gnomAD
FIGN	Q5HY92	p.Glu598Ala	rs756945088	missense variant	-	NC_000002.12:g.163610039T>G	gnomAD
FIGN	Q5HY92	p.Ser600Asn	rs370286235	missense variant	-	NC_000002.12:g.163610033C>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val602Ala	rs548435880	missense variant	-	NC_000002.12:g.163610027A>G	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val602Asp	rs548435880	missense variant	-	NC_000002.12:g.163610027A>T	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val602Phe	rs778134806	missense variant	-	NC_000002.12:g.163610028C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Arg604Gln	rs866192022	missense variant	-	NC_000002.12:g.163610021C>T	TOPMed,gnomAD
FIGN	Q5HY92	p.Arg604Trp	rs748183827	missense variant	-	NC_000002.12:g.163610022G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg604Gly	rs748183827	missense variant	-	NC_000002.12:g.163610022G>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Met605Leu	rs780148272	missense variant	-	NC_000002.12:g.163610019T>G	ExAC,gnomAD
FIGN	Q5HY92	p.Arg606Lys	rs1158978785	missense variant	-	NC_000002.12:g.163610015C>T	gnomAD
FIGN	Q5HY92	p.Arg606Ser	rs1161722739	missense variant	-	NC_000002.12:g.163610014T>A	TOPMed
FIGN	Q5HY92	p.Glu608Lys	rs374396460	missense variant	-	NC_000002.12:g.163610010C>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Glu608Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163610008T>G	NCI-TCGA
FIGN	Q5HY92	p.Phe609Leu	COSM3990691	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163610005A>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Met611Ile	COSM476119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609999C>G	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Met611Thr	rs753503437	missense variant	-	NC_000002.12:g.163610000A>G	ExAC,gnomAD
FIGN	Q5HY92	p.Met611Leu	rs1013794516	missense variant	-	NC_000002.12:g.163610001T>G	TOPMed
FIGN	Q5HY92	p.Thr615Ile	rs1243172277	missense variant	-	NC_000002.12:g.163609988G>A	TOPMed
FIGN	Q5HY92	p.Leu617Ile	rs1241556271	missense variant	-	NC_000002.12:g.163609983G>T	TOPMed,gnomAD
FIGN	Q5HY92	p.Ser619Leu	rs559490173	missense variant	-	NC_000002.12:g.163609976G>A	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala620Ser	rs1230171515	missense variant	-	NC_000002.12:g.163609974C>A	gnomAD
FIGN	Q5HY92	p.Asp622Glu	rs1380180278	missense variant	-	NC_000002.12:g.163609966G>T	TOPMed,gnomAD
FIGN	Q5HY92	p.Ile624Thr	rs774889343	missense variant	-	NC_000002.12:g.163609961A>G	ExAC,gnomAD
FIGN	Q5HY92	p.Val625Leu	rs763361411	missense variant	-	NC_000002.12:g.163609959C>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val625Leu	rs763361411	missense variant	-	NC_000002.12:g.163609959C>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val625Ile	rs763361411	missense variant	-	NC_000002.12:g.163609959C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val626Leu	rs773584014	missense variant	-	NC_000002.12:g.163609956C>G	ExAC,gnomAD
FIGN	Q5HY92	p.Cys628Ser	rs1363486323	missense variant	-	NC_000002.12:g.163609949C>G	gnomAD
FIGN	Q5HY92	p.Ser631Arg	rs1387095379	missense variant	-	NC_000002.12:g.163609939A>C	TOPMed
FIGN	Q5HY92	p.Ser639Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609916G>A	NCI-TCGA
FIGN	Q5HY92	p.Leu640Phe	rs1418380064	missense variant	-	NC_000002.12:g.163609914G>A	gnomAD
FIGN	Q5HY92	p.Arg641Gln	rs373009586	missense variant	-	NC_000002.12:g.163609910C>T	ESP,ExAC,gnomAD
FIGN	Q5HY92	p.Arg641Trp	rs781372648	missense variant	-	NC_000002.12:g.163609911G>A	ExAC
FIGN	Q5HY92	p.Phe644Leu	rs369917415	missense variant	-	NC_000002.12:g.163609902A>G	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg647Ter	COSM5736235	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163609893G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Pro653Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609875G>T	NCI-TCGA
FIGN	Q5HY92	p.Ala657Val	rs1445178845	missense variant	-	NC_000002.12:g.163609862G>A	TOPMed
FIGN	Q5HY92	p.His659Tyr	rs777432154	missense variant	-	NC_000002.12:g.163609857G>A	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ile661Thr	rs1322511155	missense variant	-	NC_000002.12:g.163609850A>G	gnomAD
FIGN	Q5HY92	p.Ile662Val	rs1490790566	missense variant	-	NC_000002.12:g.163609848T>C	TOPMed,gnomAD
FIGN	Q5HY92	p.Ile662Met	rs1295080953	missense variant	-	NC_000002.12:g.163609846T>C	gnomAD
FIGN	Q5HY92	p.Val663Ile	rs543794640	missense variant	-	NC_000002.12:g.163609845C>T	1000Genomes,ExAC,gnomAD
FIGN	Q5HY92	p.Val663Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609844A>G	NCI-TCGA
FIGN	Q5HY92	p.Gln664Ter	rs752320617	stop gained	-	NC_000002.12:g.163609842G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Leu665Met	rs759080544	missense variant	-	NC_000002.12:g.163609839G>T	ExAC,gnomAD
FIGN	Q5HY92	p.Gln668Arg	rs752062335	missense variant	-	NC_000002.12:g.163609829T>C	ExAC,gnomAD
FIGN	Q5HY92	p.His669Arg	rs763234059	missense variant	-	NC_000002.12:g.163609826T>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Asn670Ser	rs773673802	missense variant	-	NC_000002.12:g.163609823T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Cys672Trp	rs1296390139	missense variant	-	NC_000002.12:g.163609816A>C	gnomAD
FIGN	Q5HY92	p.Asp675Gly	rs1401093936	missense variant	-	NC_000002.12:g.163609808T>C	TOPMed
FIGN	Q5HY92	p.Ala679Val	rs776966651	missense variant	-	NC_000002.12:g.163609796G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Leu680Met	rs1198081573	missense variant	-	NC_000002.12:g.163609794G>T	gnomAD
FIGN	Q5HY92	p.Val682Ile	rs772366924	missense variant	-	NC_000002.12:g.163609788C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gln683Arg	rs1193464973	missense variant	-	NC_000002.12:g.163609784T>C	gnomAD
FIGN	Q5HY92	p.Arg684His	rs375256647	missense variant	-	NC_000002.12:g.163609781C>T	ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Arg684Cys	rs747101469	missense variant	-	NC_000002.12:g.163609782G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Glu686Gly	rs749099633	missense variant	-	NC_000002.12:g.163609775T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Gly687Asp	rs1223011763	missense variant	-	NC_000002.12:g.163609772C>T	gnomAD
FIGN	Q5HY92	p.Ser689Tyr	rs755871895	missense variant	-	NC_000002.12:g.163609766G>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ser689Cys	rs755871895	missense variant	-	NC_000002.12:g.163609766G>C	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Asp692His	rs780883230	missense variant	-	NC_000002.12:g.163609758C>G	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Val693Met	rs754458758	missense variant	-	NC_000002.12:g.163609755C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Ala694Val	rs766827746	missense variant	-	NC_000002.12:g.163609751G>A	ExAC,gnomAD
FIGN	Q5HY92	p.His695Arg	rs140327557	missense variant	-	NC_000002.12:g.163609748T>C	1000Genomes,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Glu699Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609737C>T	NCI-TCGA
FIGN	Q5HY92	p.Ala700Gly	rs750944652	missense variant	-	NC_000002.12:g.163609733G>C	ExAC,gnomAD
FIGN	Q5HY92	p.Val701Met	COSM256071	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609731C>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Val701Leu	rs765741703	missense variant	-	NC_000002.12:g.163609731C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Pro704His	rs762267953	missense variant	-	NC_000002.12:g.163609721G>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Pro704Ala	rs1445384427	missense variant	-	NC_000002.12:g.163609722G>C	TOPMed
FIGN	Q5HY92	p.Leu705Pro	rs777054707	missense variant	-	NC_000002.12:g.163609718A>G	ExAC,gnomAD
FIGN	Q5HY92	p.Ala707Thr	rs1257894633	missense variant	-	NC_000002.12:g.163609713C>T	gnomAD
FIGN	Q5HY92	p.Met708Ile	rs1233798353	missense variant	-	NC_000002.12:g.163609708C>G	gnomAD
FIGN	Q5HY92	p.Pro709Gln	rs764322259	missense variant	-	NC_000002.12:g.163609706G>T	ExAC,gnomAD
FIGN	Q5HY92	p.Asp712Glu	rs760697373	missense variant	-	NC_000002.12:g.163609696G>C	ExAC
FIGN	Q5HY92	p.Ser714TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.163609684_163609691AATGGCTG>-	NCI-TCGA
FIGN	Q5HY92	p.Ser714Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609691G>A	NCI-TCGA
FIGN	Q5HY92	p.Ile716Thr	rs772019817	missense variant	-	NC_000002.12:g.163609685A>G	ExAC,gnomAD
FIGN	Q5HY92	p.Met717Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609681C>T	NCI-TCGA
FIGN	Q5HY92	p.Pro718Ser	rs1377410838	missense variant	-	NC_000002.12:g.163609680G>A	gnomAD
FIGN	Q5HY92	p.Pro718Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609680G>T	NCI-TCGA
FIGN	Q5HY92	p.Gln720Glu	rs1450081315	missense variant	-	NC_000002.12:g.163609674G>C	gnomAD
FIGN	Q5HY92	p.Gln720His	rs749259145	missense variant	-	NC_000002.12:g.163609672C>A	ExAC,gnomAD
FIGN	Q5HY92	p.Val724Ile	rs202007179	missense variant	-	NC_000002.12:g.163609662C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Thr725Ile	rs189751107	missense variant	-	NC_000002.12:g.163609658G>A	1000Genomes,ExAC,gnomAD
FIGN	Q5HY92	p.Tyr726Asp	rs746525347	missense variant	-	NC_000002.12:g.163609656A>C	ExAC,gnomAD
FIGN	Q5HY92	p.Asp728Tyr	rs1428275047	missense variant	-	NC_000002.12:g.163609650C>A	TOPMed
FIGN	Q5HY92	p.Glu730Lys	COSM3798107	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609644C>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Glu730Ala	rs757950651	missense variant	-	NC_000002.12:g.163609643T>G	ExAC,gnomAD
FIGN	Q5HY92	p.Asn731Lys	rs751041716	missense variant	-	NC_000002.12:g.163609639A>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Lys735Glu	rs765829497	missense variant	-	NC_000002.12:g.163609629T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Lys735Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609627C>A	NCI-TCGA
FIGN	Q5HY92	p.Ile736Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609625A>T	NCI-TCGA
FIGN	Q5HY92	p.Gln737Ter	COSM1669341	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.163609623G>A	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Pro738Ser	rs757711551	missense variant	-	NC_000002.12:g.163609620G>A	ExAC,gnomAD
FIGN	Q5HY92	p.Ile740Val	rs1406319027	missense variant	-	NC_000002.12:g.163609614T>C	TOPMed
FIGN	Q5HY92	p.Ile740Met	rs754188519	missense variant	-	NC_000002.12:g.163609612T>C	ExAC,gnomAD
FIGN	Q5HY92	p.Ser741Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609610G>A	NCI-TCGA
FIGN	Q5HY92	p.Gln742Glu	rs919162626	missense variant	-	NC_000002.12:g.163609608G>C	TOPMed
FIGN	Q5HY92	p.Asp746Val	rs761003542	missense variant	-	NC_000002.12:g.163609595T>A	ExAC,gnomAD
FIGN	Q5HY92	p.Asp746His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609596C>G	NCI-TCGA
FIGN	Q5HY92	p.Met747Val	rs1243240618	missense variant	-	NC_000002.12:g.163609593T>C	gnomAD
FIGN	Q5HY92	p.Met747Thr	rs1341910054	missense variant	-	NC_000002.12:g.163609592A>G	gnomAD
FIGN	Q5HY92	p.Val749Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609586A>T	NCI-TCGA
FIGN	Q5HY92	p.Asn752Lys	COSM441331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609576G>C	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Asn752Lys	COSM6088147	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.163609576G>T	NCI-TCGA Cosmic
FIGN	Q5HY92	p.Lys753Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.163609574T>C	NCI-TCGA
FIGN	Q5HY92	p.Met754Ile	rs767702080	missense variant	-	NC_000002.12:g.163609570C>T	ExAC,TOPMed,gnomAD
FIGN	Q5HY92	p.Gly756Ser	rs1381196187	missense variant	-	NC_000002.12:g.163609566C>T	gnomAD
PBX3	Q5JS98	p.Asp2Asn	rs1219557531	missense variant	-	NC_000009.12:g.125747457G>A	TOPMed
PBX3	Q5JS98	p.Asp3Asn	rs1342125873	missense variant	-	NC_000009.12:g.125747460G>A	TOPMed
PBX3	Q5JS98	p.Gln4Glu	rs1451675407	missense variant	-	NC_000009.12:g.125747463C>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Ser5Phe	rs1191771334	missense variant	-	NC_000009.12:g.125747467C>T	gnomAD
PBX3	Q5JS98	p.Arg6Lys	rs1451326166	missense variant	-	NC_000009.12:g.125747470G>A	gnomAD
PBX3	Q5JS98	p.Met7Leu	rs1169107780	missense variant	-	NC_000009.12:g.125747472A>T	gnomAD
PBX3	Q5JS98	p.Leu8Val	rs370064871	missense variant	-	NC_000009.12:g.125747475C>G	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Gln9Pro	rs1456162755	missense variant	-	NC_000009.12:g.125747479A>C	gnomAD
PBX3	Q5JS98	p.Gly13Arg	rs777159965	missense variant	-	NC_000009.12:g.125747490G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Leu16Pro	rs1331800511	missense variant	-	NC_000009.12:g.125747500T>C	TOPMed
PBX3	Q5JS98	p.Ala17Val	rs1476859332	missense variant	-	NC_000009.12:g.125747503C>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Ser20Leu	rs1321525560	missense variant	-	NC_000009.12:g.125747512C>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Val21Glu	rs761376072	missense variant	-	NC_000009.12:g.125747515T>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Gln22Glu	rs1207705457	missense variant	-	NC_000009.12:g.125747517C>G	gnomAD
PBX3	Q5JS98	p.Gly23Arg	rs1245707280	missense variant	-	NC_000009.12:g.125747520G>A	gnomAD
PBX3	Q5JS98	p.Gly23Ala	rs767283062	missense variant	-	NC_000009.12:g.125747521G>C	ExAC,gnomAD
PBX3	Q5JS98	p.Met25Val	rs1421849541	missense variant	-	NC_000009.12:g.125747526A>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Met25Lys	rs766389213	missense variant	-	NC_000009.12:g.125747527T>A	ExAC,gnomAD
PBX3	Q5JS98	p.Ala26Thr	rs753875955	missense variant	-	NC_000009.12:g.125747529G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala26Val	rs755059483	missense variant	-	NC_000009.12:g.125747530C>T	ExAC,gnomAD
PBX3	Q5JS98	p.Pro28Leu	rs1437313624	missense variant	-	NC_000009.12:g.125747536C>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Pro28Ser	rs765268845	missense variant	-	NC_000009.12:g.125747535C>T	ExAC,gnomAD
PBX3	Q5JS98	p.Pro29Ser	rs1379006585	missense variant	-	NC_000009.12:g.125747538C>T	gnomAD
PBX3	Q5JS98	p.Pro30Thr	rs752900950	missense variant	-	NC_000009.12:g.125747541C>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Pro30Ser	rs752900950	missense variant	-	NC_000009.12:g.125747541C>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Pro31Leu	rs1424577500	missense variant	-	NC_000009.12:g.125747545C>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Pro31Ser	rs758564832	missense variant	-	NC_000009.12:g.125747544C>T	ExAC,gnomAD
PBX3	Q5JS98	p.His32Gln	rs1457753272	missense variant	-	NC_000009.12:g.125747549C>A	TOPMed,gnomAD
PBX3	Q5JS98	p.Gly33Val	rs747340090	missense variant	-	NC_000009.12:g.125747551G>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Gly33Ser	rs778122036	missense variant	-	NC_000009.12:g.125747550G>A	ExAC,gnomAD
PBX3	Q5JS98	p.His34Pro	rs757663887	missense variant	-	NC_000009.12:g.125747554A>C	ExAC,gnomAD
PBX3	Q5JS98	p.His34Gln	rs781625025	missense variant	-	NC_000009.12:g.125747555C>G	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Glu35Gln	rs1183498146	missense variant	-	NC_000009.12:g.125747556G>C	gnomAD
PBX3	Q5JS98	p.Glu35Lys	rs1183498146	missense variant	-	NC_000009.12:g.125747556G>A	gnomAD
PBX3	Q5JS98	p.Gly36Val	rs1309471066	missense variant	-	NC_000009.12:g.125747560G>T	TOPMed
PBX3	Q5JS98	p.Ala37Thr	rs768144138	missense variant	-	NC_000009.12:g.125747562G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Ala37Val	rs1472116570	missense variant	-	NC_000009.12:g.125747563C>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Asp38Gly	rs1409941554	missense variant	-	NC_000009.12:g.125747566A>G	gnomAD
PBX3	Q5JS98	p.Gly39Ser	rs142427880	missense variant	-	NC_000009.12:g.125747568G>A	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Gly41Val	rs1008224254	missense variant	-	NC_000009.12:g.125747575G>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Gly41Ser	rs1358644789	missense variant	-	NC_000009.12:g.125747574G>A	gnomAD
PBX3	Q5JS98	p.Arg42Met	rs771621196	missense variant	-	NC_000009.12:g.125747578G>T	ExAC,gnomAD
PBX3	Q5JS98	p.Lys43Gln	rs74704804	missense variant	-	NC_000009.12:g.125747580A>C	TOPMed,gnomAD
PBX3	Q5JS98	p.Lys43Glu	rs74704804	missense variant	-	NC_000009.12:g.125747580A>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Gln44Arg	rs571215823	missense variant	-	NC_000009.12:g.125747584A>G	1000Genomes,ExAC,gnomAD
PBX3	Q5JS98	p.Asp45Asn	rs760524157	missense variant	-	NC_000009.12:g.125747586G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Asp45Gly	rs1165582803	missense variant	-	NC_000009.12:g.125747587A>G	TOPMed
PBX3	Q5JS98	p.Ile46Val	rs766299287	missense variant	-	NC_000009.12:g.125747589A>G	ExAC,gnomAD
PBX3	Q5JS98	p.Gly47Ser	rs1300043386	missense variant	-	NC_000009.12:g.125747592G>A	gnomAD
PBX3	Q5JS98	p.Asp48Asn	rs776674550	missense variant	-	NC_000009.12:g.125747595G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Ile49Leu	rs759400160	missense variant	-	NC_000009.12:g.125747598A>C	ExAC,gnomAD
PBX3	Q5JS98	p.His51Gln	rs533880904	missense variant	-	NC_000009.12:g.125747606C>G	1000Genomes,ExAC,gnomAD
PBX3	Q5JS98	p.Met54Ile	rs150874436	missense variant	-	NC_000009.12:g.125747615G>A	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Thr55Ile	rs758542924	missense variant	-	NC_000009.12:g.125747617C>T	ExAC,gnomAD
PBX3	Q5JS98	p.Ile56Val	rs1253685794	missense variant	-	NC_000009.12:g.125747619A>G	gnomAD
PBX3	Q5JS98	p.Asp58Glu	rs764276074	missense variant	-	NC_000009.12:g.125747627C>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Asp62Glu	rs781541413	missense variant	-	NC_000009.12:g.125747639C>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Asp62Asn	rs757573908	missense variant	-	NC_000009.12:g.125747637G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Gln65His	rs1178908228	missense variant	-	NC_000009.12:g.125747648A>T	gnomAD
PBX3	Q5JS98	p.Lys67Met	rs1306640238	missense variant	-	NC_000009.12:g.125747653A>T	gnomAD
PBX3	Q5JS98	p.Ala70Gly	rs757807700	missense variant	-	NC_000009.12:g.125748558C>G	ExAC,gnomAD
PBX3	Q5JS98	p.Ala70Ser	rs1227462791	missense variant	-	NC_000009.12:g.125748557G>T	gnomAD
PBX3	Q5JS98	p.Cys73Tyr	rs777431167	missense variant	-	NC_000009.12:g.125748567G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Ala79Gly	rs372548249	missense variant	-	NC_000009.12:g.125748585C>G	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala79Val	rs372548249	missense variant	-	NC_000009.12:g.125748585C>T	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ser82Arg	rs1475956028	missense variant	-	NC_000009.12:g.125748595C>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Ser82Asn	rs1250377330	missense variant	-	NC_000009.12:g.125748594G>A	gnomAD
PBX3	Q5JS98	p.Val83Ile	rs1163094321	missense variant	-	NC_000009.12:g.125748596G>A	gnomAD
PBX3	Q5JS98	p.Val83Ala	rs745624717	missense variant	-	NC_000009.12:g.125748597T>C	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Glu86Gln	rs1162862648	missense variant	-	NC_000009.12:g.125748605G>C	TOPMed,gnomAD
PBX3	Q5JS98	p.Glu86Asp	rs527311115	missense variant	-	NC_000009.12:g.125748607G>C	1000Genomes,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Glu86Asp	rs527311115	missense variant	-	NC_000009.12:g.125748607G>T	1000Genomes,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ile87Thr	rs1370595136	missense variant	-	NC_000009.12:g.125748609T>C	gnomAD
PBX3	Q5JS98	p.Glu89Asp	rs199866010	missense variant	-	NC_000009.12:g.125748616G>C	1000Genomes,ExAC,gnomAD
PBX3	Q5JS98	p.Ser94Gly	rs773356079	missense variant	-	NC_000009.12:g.125915691A>G	ExAC,gnomAD
PBX3	Q5JS98	p.Gln99Glu	rs747120199	missense variant	-	NC_000009.12:g.125915706C>G	ExAC,gnomAD
PBX3	Q5JS98	p.Gln99His	rs140051153	missense variant	-	NC_000009.12:g.125915708G>C	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Asp105Asn	rs776761260	missense variant	-	NC_000009.12:g.125915724G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Pro106Leu	rs759959963	missense variant	-	NC_000009.12:g.125915728C>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala117Thr	rs763563551	missense variant	-	NC_000009.12:g.125915760G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Val120Phe	rs1355292784	missense variant	-	NC_000009.12:g.125915769G>T	gnomAD
PBX3	Q5JS98	p.Gly122Arg	rs1207671653	missense variant	-	NC_000009.12:g.125915775G>C	gnomAD
PBX3	Q5JS98	p.Gly126Cys	rs764566026	missense variant	-	NC_000009.12:g.125915787G>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ser129Leu	rs749944206	missense variant	-	NC_000009.12:g.125915797C>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala130Val	rs376106319	missense variant	-	NC_000009.12:g.125915800C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala131Thr	rs754730113	missense variant	-	NC_000009.12:g.125915802G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Ala133Thr	rs778685108	missense variant	-	NC_000009.12:g.125915808G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala135Val	rs1427310701	missense variant	-	NC_000009.12:g.125915815C>T	TOPMed
PBX3	Q5JS98	p.Ala135Ser	rs1457639084	missense variant	-	NC_000009.12:g.125915814G>T	gnomAD
PBX3	Q5JS98	p.Ala136Val	rs145687528	missense variant	-	NC_000009.12:g.125915818C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala136Thr	rs748021321	missense variant	-	NC_000009.12:g.125915817G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala137Pro	rs747083036	missense variant	-	NC_000009.12:g.125915820G>C	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala137Thr	rs747083036	missense variant	-	NC_000009.12:g.125915820G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Asp144His	rs369511204	missense variant	-	NC_000009.12:g.125915841G>C	ESP,TOPMed,gnomAD
PBX3	Q5JS98	p.Asn145Asp	rs770967440	missense variant	-	NC_000009.12:g.125915844A>G	ExAC
PBX3	Q5JS98	p.Asn145Ser	rs114889309	missense variant	-	NC_000009.12:g.125915845A>G	1000Genomes,TOPMed
PBX3	Q5JS98	p.Ser146Ala	rs781521763	missense variant	-	NC_000009.12:g.125915847T>G	ExAC,gnomAD
PBX3	Q5JS98	p.Ser146Pro	rs781521763	missense variant	-	NC_000009.12:g.125915847T>C	ExAC,gnomAD
PBX3	Q5JS98	p.Ser146Cys	rs746089781	missense variant	-	NC_000009.12:g.125915848C>G	ExAC,gnomAD
PBX3	Q5JS98	p.Glu148Lys	rs1242266893	missense variant	-	NC_000009.12:g.125915853G>A	gnomAD
PBX3	Q5JS98	p.His149Arg	rs1274623099	missense variant	-	NC_000009.12:g.125915857A>G	gnomAD
PBX3	Q5JS98	p.Lys155Arg	rs770222083	missense variant	-	NC_000009.12:g.125915875A>G	ExAC,gnomAD
PBX3	Q5JS98	p.Arg160Gly	rs769175931	missense variant	-	NC_000009.12:g.125915889A>G	ExAC,gnomAD
PBX3	Q5JS98	p.Tyr163Phe	rs1255243092	missense variant	-	NC_000009.12:g.125915899A>T	gnomAD
PBX3	Q5JS98	p.Thr165Ile	rs966517514	missense variant	-	NC_000009.12:g.125915905C>T	TOPMed
PBX3	Q5JS98	p.Thr165Ser	rs774767232	missense variant	-	NC_000009.12:g.125915904A>T	ExAC,gnomAD
PBX3	Q5JS98	p.Glu168Lys	rs1342125938	missense variant	-	NC_000009.12:g.125915913G>A	TOPMed
PBX3	Q5JS98	p.Cys174Arg	rs770369947	missense variant	-	NC_000009.12:g.125929658T>C	ExAC,gnomAD
PBX3	Q5JS98	p.Thr179Ser	rs764842480	missense variant	-	NC_000009.12:g.125929673A>T	ExAC,gnomAD
PBX3	Q5JS98	p.Ile194Val	rs762763325	missense variant	-	NC_000009.12:g.125929718A>G	ExAC,gnomAD
PBX3	Q5JS98	p.Glu198Gly	rs552732781	missense variant	-	NC_000009.12:g.125929731A>G	1000Genomes
PBX3	Q5JS98	p.Met202Val	rs1364028655	missense variant	-	NC_000009.12:g.125929742A>G	TOPMed
PBX3	Q5JS98	p.Gly204Asp	rs763798178	missense variant	-	NC_000009.12:g.125929749G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ile205Val	rs1204749562	missense variant	-	NC_000009.12:g.125929751A>G	gnomAD
PBX3	Q5JS98	p.His207Arg	rs751451699	missense variant	-	NC_000009.12:g.125929758A>G	ExAC,gnomAD
PBX3	Q5JS98	p.Arg208Ter	rs866234715	stop gained	-	NC_000009.12:g.125929760C>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Arg208Gln	rs757125897	missense variant	-	NC_000009.12:g.125929761G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ser211Arg	rs1453162545	missense variant	-	NC_000009.12:g.125929771T>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Ser211Arg	rs1453162545	missense variant	-	NC_000009.12:g.125929771T>A	TOPMed,gnomAD
PBX3	Q5JS98	p.Met215Leu	rs905326681	missense variant	-	NC_000009.12:g.125929781A>C	gnomAD
PBX3	Q5JS98	p.Met215Val	rs905326681	missense variant	-	NC_000009.12:g.125929781A>G	gnomAD
PBX3	Q5JS98	p.Thr221Ile	rs756309619	missense variant	-	NC_000009.12:g.125929800C>T	ExAC,gnomAD
PBX3	Q5JS98	p.Glu223Lys	rs1355974210	missense variant	-	NC_000009.12:g.125929805G>A	gnomAD
PBX3	Q5JS98	p.Ile227Val	rs755303268	missense variant	-	NC_000009.12:g.125929817A>G	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ser230Ter	rs1443036967	stop gained	-	NC_000009.12:g.125929827C>G	gnomAD
PBX3	Q5JS98	p.Ala235Val	rs1280344617	missense variant	-	NC_000009.12:g.125929842C>T	TOPMed
PBX3	Q5JS98	p.Arg237Trp	rs747549247	missense variant	-	NC_000009.12:g.125935473C>T	ExAC,gnomAD
PBX3	Q5JS98	p.Ser243Gly	rs1464870108	missense variant	-	NC_000009.12:g.125935491A>G	gnomAD
PBX3	Q5JS98	p.Ile249Val	rs978086024	missense variant	-	NC_000009.12:g.125935509A>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Ile249Leu	rs978086024	missense variant	-	NC_000009.12:g.125935509A>C	TOPMed,gnomAD
PBX3	Q5JS98	p.Ser276Gly	rs1320149348	missense variant	-	NC_000009.12:g.125935590A>G	gnomAD
PBX3	Q5JS98	p.Val279Leu	rs761648860	missense variant	-	NC_000009.12:g.125935599G>C	ExAC,gnomAD
PBX3	Q5JS98	p.Val284Gly	rs191936904	missense variant	-	NC_000009.12:g.125949385T>G	1000Genomes,ExAC,gnomAD
PBX3	Q5JS98	p.Val284Ile	rs1354826653	missense variant	-	NC_000009.12:g.125949384G>A	TOPMed
PBX3	Q5JS98	p.Asp286Asn	rs771936841	missense variant	-	NC_000009.12:g.125949390G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Glu289Ter	rs1284184980	stop gained	-	NC_000009.12:g.125949399G>T	TOPMed
PBX3	Q5JS98	p.Glu289Ala	rs1022903900	missense variant	-	NC_000009.12:g.125949400A>C	TOPMed,gnomAD
PBX3	Q5JS98	p.Arg290Lys	rs1232920285	missense variant	-	NC_000009.12:g.125949403G>A	TOPMed,gnomAD
PBX3	Q5JS98	p.Arg290Gly	rs969977000	missense variant	-	NC_000009.12:g.125949402A>G	TOPMed
PBX3	Q5JS98	p.Gly294Val	rs1477684466	missense variant	-	NC_000009.12:g.125949415G>T	gnomAD
PBX3	Q5JS98	p.Pro299Gln	rs1396693398	missense variant	-	NC_000009.12:g.125949430C>A	gnomAD
PBX3	Q5JS98	p.Thr300Ala	rs1409463748	missense variant	-	NC_000009.12:g.125949432A>G	TOPMed
PBX3	Q5JS98	p.Ser301Gly	rs770304122	missense variant	-	NC_000009.12:g.125949435A>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Val302Met	rs980073368	missense variant	-	NC_000009.12:g.125949438G>A	TOPMed,gnomAD
PBX3	Q5JS98	p.Ile318Val	rs1169822666	missense variant	-	NC_000009.12:g.125960729A>G	gnomAD
PBX3	Q5JS98	p.Gly319Ala	rs1397344386	missense variant	-	NC_000009.12:g.125960733G>C	gnomAD
PBX3	Q5JS98	p.Val334Met	rs771847017	missense variant	-	NC_000009.12:g.125960777G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.His338Arg	rs928210585	missense variant	-	NC_000009.12:g.125960790A>G	gnomAD
PBX3	Q5JS98	p.Ala339Thr	rs1211338268	missense variant	-	NC_000009.12:g.125960792G>A	gnomAD
PBX3	Q5JS98	p.Ala341Thr	rs199830900	missense variant	-	NC_000009.12:g.125960798G>A	gnomAD
PBX3	Q5JS98	p.Ala342Ser	rs1345398723	missense variant	-	NC_000009.12:g.125960801G>T	TOPMed
PBX3	Q5JS98	p.Val344Leu	rs746779624	missense variant	-	NC_000009.12:g.125960807G>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Val344Met	rs746779624	missense variant	-	NC_000009.12:g.125960807G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Gln345Arg	rs1195608553	missense variant	-	NC_000009.12:g.125960811A>G	gnomAD
PBX3	Q5JS98	p.Gln345Ter	rs769708708	stop gained	-	NC_000009.12:g.125960810C>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Asn347Thr	rs764276258	missense variant	-	NC_000009.12:g.125960817A>C	ExAC,gnomAD
PBX3	Q5JS98	p.Asn347Asp	rs763057322	missense variant	-	NC_000009.12:g.125960816A>G	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Gln348Glu	rs751799223	missense variant	-	NC_000009.12:g.125960819C>G	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Thr349Ser	rs1288753247	missense variant	-	NC_000009.12:g.125960822A>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Asn350Ser	rs529247699	missense variant	-	NC_000009.12:g.125960826A>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Ser351Leu	rs370710553	missense variant	-	NC_000009.12:g.125960829C>T	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Pro352Ser	rs1354505165	missense variant	-	NC_000009.12:g.125960831C>T	gnomAD
PBX3	Q5JS98	p.Thr353Ile	rs1052597538	missense variant	-	NC_000009.12:g.125960835C>T	gnomAD
PBX3	Q5JS98	p.Gly358Ser	rs1264012994	missense variant	-	NC_000009.12:g.125960849G>A	TOPMed
PBX3	Q5JS98	p.Gly361Asp	rs1176754546	missense variant	-	NC_000009.12:g.125962111G>A	gnomAD
PBX3	Q5JS98	p.Phe363Ser	rs766971839	missense variant	-	NC_000009.12:g.125962117T>C	ExAC,gnomAD
PBX3	Q5JS98	p.Phe363Cys	rs766971839	missense variant	-	NC_000009.12:g.125962117T>G	ExAC,gnomAD
PBX3	Q5JS98	p.Asn364Ser	rs754420582	missense variant	-	NC_000009.12:g.125962120A>G	ExAC,gnomAD
PBX3	Q5JS98	p.Asn364Tyr	rs1421450777	missense variant	-	NC_000009.12:g.125962119A>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Leu365Val	rs1394890851	missense variant	-	NC_000009.12:g.125962122C>G	gnomAD
PBX3	Q5JS98	p.Pro366Ser	rs757944367	missense variant	-	NC_000009.12:g.125962125C>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Asp370Val	rs1260669584	missense variant	-	NC_000009.12:g.125962138A>T	gnomAD
PBX3	Q5JS98	p.Met373Leu	rs751118814	missense variant	-	NC_000009.12:g.125962146A>T	ExAC,gnomAD
PBX3	Q5JS98	p.Met375Ile	rs1461170266	missense variant	-	NC_000009.12:g.125962154G>A	gnomAD
PBX3	Q5JS98	p.Gln376Arg	rs756924554	missense variant	-	NC_000009.12:g.125962156A>G	ExAC,gnomAD
PBX3	Q5JS98	p.Asn379Asp	rs567150557	missense variant	-	NC_000009.12:g.125962164A>G	1000Genomes,ExAC,gnomAD
PBX3	Q5JS98	p.Gly380Arg	rs1226151932	missense variant	-	NC_000009.12:g.125962167G>A	TOPMed
PBX3	Q5JS98	p.Asp381His	rs1355153163	missense variant	-	NC_000009.12:g.125962170G>C	TOPMed
PBX3	Q5JS98	p.Gln384Arg	rs934525961	missense variant	-	NC_000009.12:g.125962180A>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Gly385Arg	rs536129292	missense variant	-	NC_000009.12:g.125962182G>C	1000Genomes,ExAC,gnomAD
PBX3	Q5JS98	p.Val392Met	rs1236289034	missense variant	-	NC_000009.12:g.125962203G>A	gnomAD
PBX3	Q5JS98	p.Asp397Val	rs1477938887	missense variant	-	NC_000009.12:g.125963016A>T	gnomAD
PBX3	Q5JS98	p.Leu399Phe	rs1414988839	missense variant	-	NC_000009.12:g.125963021C>T	gnomAD
PBX3	Q5JS98	p.Arg400Cys	rs778017986	missense variant	-	NC_000009.12:g.125963024C>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Arg400His	rs747241535	missense variant	-	NC_000009.12:g.125963025G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.His401Gln	rs550677932	missense variant	-	NC_000009.12:g.125963029T>A	1000Genomes,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Val402Ala	rs1418270613	missense variant	-	NC_000009.12:g.125963031T>C	TOPMed
PBX3	Q5JS98	p.Ile403Val	rs1230357042	missense variant	-	NC_000009.12:g.125963033A>G	gnomAD
PBX3	Q5JS98	p.Ile403Met	rs148844992	missense variant	-	NC_000009.12:g.125963035C>G	ESP,ExAC
PBX3	Q5JS98	p.Asn404Ser	rs1428320651	missense variant	-	NC_000009.12:g.125963037A>G	gnomAD
PBX3	Q5JS98	p.Gln405Ter	rs760049554	stop gained	-	NC_000009.12:g.125963039C>T	ExAC,gnomAD
PBX3	Q5JS98	p.Thr406Met	rs143568685	missense variant	-	NC_000009.12:g.125963043C>T	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Gly408Asp	rs1292801224	missense variant	-	NC_000009.12:g.125963049G>A	gnomAD
PBX3	Q5JS98	p.Tyr409His	rs750032236	missense variant	-	NC_000009.12:g.125963051T>C	ExAC,gnomAD
PBX3	Q5JS98	p.Ser410Gly	rs376665042	missense variant	-	NC_000009.12:g.125963054A>G	ESP,TOPMed
PBX3	Q5JS98	p.Asn416Ser	rs1294243112	missense variant	-	NC_000009.12:g.125963073A>G	TOPMed
PBX3	Q5JS98	p.Asn416Asp	rs144885113	missense variant	-	NC_000009.12:g.125963072A>G	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Leu418Pro	rs138731813	missense variant	-	NC_000009.12:g.125963079T>C	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Leu418Arg	rs138731813	missense variant	-	NC_000009.12:g.125963079T>G	ESP,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ser420Gly	rs1475865760	missense variant	-	NC_000009.12:g.125963084A>G	TOPMed,gnomAD
PBX3	Q5JS98	p.Ser420Asn	rs752609937	missense variant	-	NC_000009.12:g.125963085G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Pro421Ser	rs114191763	missense variant	-	NC_000009.12:g.125963087C>T	1000Genomes,ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.His422Arg	rs1193479620	missense variant	-	NC_000009.12:g.125963091A>G	gnomAD
PBX3	Q5JS98	p.Asn427Ile	rs781521718	missense variant	-	NC_000009.12:g.125965835A>T	ExAC,gnomAD
PBX3	Q5JS98	p.Asn427Ser	rs781521718	missense variant	-	NC_000009.12:g.125965835A>G	ExAC,gnomAD
PBX3	Q5JS98	p.Gly428Ala	rs142803989	missense variant	-	NC_000009.12:g.125965838G>C	ESP,ExAC,TOPMed
PBX3	Q5JS98	p.Gly428Arg	rs746089717	missense variant	-	NC_000009.12:g.125965837G>A	ExAC,gnomAD
PBX3	Q5JS98	p.Gly429Ser	rs542398925	missense variant	-	NC_000009.12:g.125965840G>A	1000Genomes,ExAC,gnomAD
PBX3	Q5JS98	p.Asp432Asn	rs749727832	missense variant	-	NC_000009.12:g.125965849G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala433Thr	rs774888450	missense variant	-	NC_000009.12:g.125965852G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ala433Glu	rs1005332245	missense variant	-	NC_000009.12:g.125965853C>A	TOPMed,gnomAD
PBX3	Q5JS98	p.Thr435Ala	rs1479140109	missense variant	-	NC_000009.12:g.125965858A>G	gnomAD
PBX3	Q5JS98	p.Pro436Thr	rs746473969	missense variant	-	NC_000009.12:g.125965861C>A	ExAC,gnomAD
PBX3	Q5JS98	p.Ser437Phe	rs1055844041	missense variant	-	NC_000009.12:g.125965865C>T	TOPMed,gnomAD
PBX3	Q5JS98	p.Ser438Ala	rs1454972424	missense variant	-	NC_000009.12:g.125965867T>G	gnomAD
PBX3	Q5JS98	p.Pro442Ser	rs776200610	missense variant	-	NC_000009.12:g.125965879C>T	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Pro442Leu	rs1440777808	missense variant	-	NC_000009.12:g.125965880C>T	gnomAD
PBX3	Q5JS98	p.Ser448Asn	rs759131706	missense variant	-	NC_000009.12:g.125965898G>A	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Ser448Thr	rs759131706	missense variant	-	NC_000009.12:g.125965898G>C	ExAC,TOPMed,gnomAD
PBX3	Q5JS98	p.Val449Leu	rs1376543834	missense variant	-	NC_000009.12:g.125965900G>T	gnomAD
PBX3	Q5JS98	p.His450Arg	rs115431152	missense variant	-	NC_000009.12:g.125965904A>G	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Glu2Asp	rs1408167220	missense variant	-	NC_000023.11:g.64193281C>A	gnomAD
AMER1	Q5JTC6	p.Glu2Lys	rs1330731381	missense variant	-	NC_000023.11:g.64193283C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Thr3Ala	rs779886859	missense variant	-	NC_000023.11:g.64193280T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Lys5Thr	rs745487306	missense variant	-	NC_000023.11:g.64193273T>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu7Asp	rs985833569	missense variant	-	NC_000023.11:g.64193266T>A	TOPMed
AMER1	Q5JTC6	p.Ala9Pro	rs756853564	missense variant	-	NC_000023.11:g.64193262C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala9Thr	rs756853564	missense variant	-	NC_000023.11:g.64193262C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln10Ter	rs1373608390	stop gained	-	NC_000023.11:g.64193259G>A	TOPMed
AMER1	Q5JTC6	p.Gln10Glu	rs1373608390	missense variant	-	NC_000023.11:g.64193259G>C	TOPMed
AMER1	Q5JTC6	p.Gln10His	rs751041995	missense variant	-	NC_000023.11:g.64193257C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala11Val	rs947597246	missense variant	-	NC_000023.11:g.64193255G>A	TOPMed
AMER1	Q5JTC6	p.Gly13Arg	rs1180225605	missense variant	-	NC_000023.11:g.64193250C>T	gnomAD
AMER1	Q5JTC6	p.Gly13Ala	rs779297568	missense variant	-	NC_000023.11:g.64193249C>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala14Ser	rs1225181715	missense variant	-	NC_000023.11:g.64193247C>A	TOPMed
AMER1	Q5JTC6	p.Ala15Val	rs1287116053	missense variant	-	NC_000023.11:g.64193243G>A	TOPMed
AMER1	Q5JTC6	p.Ala16Thr	rs1279998398	missense variant	-	NC_000023.11:g.64193241C>T	gnomAD
AMER1	Q5JTC6	p.Ser17Cys	rs528118163	missense variant	-	NC_000023.11:g.64193237G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Thr20Ile	rs780678741	missense variant	-	NC_000023.11:g.64193228G>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg21His	rs374303948	missense variant	-	NC_000023.11:g.64193225C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg21Cys	rs766733052	missense variant	-	NC_000023.11:g.64193226G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala25Val	rs767686564	missense variant	-	NC_000023.11:g.64193213G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly28Ala	rs770660992	missense variant	-	NC_000023.11:g.64193204C>G	1000Genomes
AMER1	Q5JTC6	p.Ala29Thr	RCV000120005	missense variant	-	NC_000023.11:g.64193202C>T	ClinVar
AMER1	Q5JTC6	p.Ala29Thr	rs138399473	missense variant	-	NC_000023.11:g.64193202C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asn31Lys	rs200635128	missense variant	-	NC_000023.11:g.64193194G>T	1000Genomes
AMER1	Q5JTC6	p.Asn31Asp	rs774731567	missense variant	-	NC_000023.11:g.64193196T>C	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Ala33Glu	rs768534964	missense variant	-	NC_000023.11:g.64193189G>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala34Ser	rs191091408	missense variant	-	NC_000023.11:g.64193187C>A	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu35Asp	rs775192033	missense variant	-	NC_000023.11:g.64193182C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala36Val	rs769613326	missense variant	-	NC_000023.11:g.64193180G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala36Thr	rs1411693889	missense variant	-	NC_000023.11:g.64193181C>T	TOPMed
AMER1	Q5JTC6	p.Thr37Ala	rs1157159299	missense variant	-	NC_000023.11:g.64193178T>C	gnomAD
AMER1	Q5JTC6	p.Gly39Val	rs199995488	missense variant	-	NC_000023.11:g.64193171C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser45Phe	rs1190709308	missense variant	-	NC_000023.11:g.64193153G>A	gnomAD
AMER1	Q5JTC6	p.Gly48Ser	rs777329368	missense variant	-	NC_000023.11:g.64193145C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu52Val	rs1285996741	missense variant	-	NC_000023.11:g.64193133G>C	gnomAD
AMER1	Q5JTC6	p.Met57Ile	rs965178548	missense variant	-	NC_000023.11:g.64193116C>A	TOPMed
AMER1	Q5JTC6	p.Met57Val	rs755475786	missense variant	-	NC_000023.11:g.64193118T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Lys58Gln	rs754346017	missense variant	-	NC_000023.11:g.64193115T>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly62Val	rs147040794	missense variant	-	NC_000023.11:g.64193102C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly62Val	RCV000119999	missense variant	-	NC_000023.11:g.64193102C>A	ClinVar
AMER1	Q5JTC6	p.Gly62Arg	rs780369368	missense variant	-	NC_000023.11:g.64193103C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Lys63Asn	rs750745643	missense variant	-	NC_000023.11:g.64193098C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly65Val	rs767748008	missense variant	-	NC_000023.11:g.64193093C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Cys67Tyr	rs1315992336	missense variant	-	NC_000023.11:g.64193087C>T	TOPMed
AMER1	Q5JTC6	p.Leu69Met	rs376576434	missense variant	-	NC_000023.11:g.64193082G>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly75Glu	rs373635767	missense variant	-	NC_000023.11:g.64193063C>T	ESP,TOPMed
AMER1	Q5JTC6	p.Gly76Glu	rs141435173	missense variant	-	NC_000023.11:g.64193060C>T	ESP,gnomAD
AMER1	Q5JTC6	p.Gly76Val	rs141435173	missense variant	-	NC_000023.11:g.64193060C>A	ESP,gnomAD
AMER1	Q5JTC6	p.Arg77Gln	rs201650985	missense variant	-	NC_000023.11:g.64193057C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg77Trp	rs1439395594	missense variant	-	NC_000023.11:g.64193058G>A	TOPMed
AMER1	Q5JTC6	p.Gly80Ala	rs762853892	missense variant	-	NC_000023.11:g.64193048C>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly82Trp	rs775507033	missense variant	-	NC_000023.11:g.64193043C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly82Val	rs1417833376	missense variant	-	NC_000023.11:g.64193042C>A	gnomAD
AMER1	Q5JTC6	p.Lys83Arg	rs1186604574	missense variant	-	NC_000023.11:g.64193039T>C	gnomAD
AMER1	Q5JTC6	p.Gly84Ser	rs1485943712	missense variant	-	NC_000023.11:g.64193037C>T	gnomAD
AMER1	Q5JTC6	p.Ser85Asn	rs769547736	missense variant	-	NC_000023.11:g.64193033C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Lys87Thr	rs759431653	missense variant	-	NC_000023.11:g.64193027T>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Lys87Glu	rs1188765751	missense variant	-	NC_000023.11:g.64193028T>C	TOPMed
AMER1	Q5JTC6	p.Lys88Asn	rs1446174636	missense variant	-	NC_000023.11:g.64193023T>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly89Ter	RCV000489502	frameshift	-	NC_000023.11:g.64193026del	ClinVar
AMER1	Q5JTC6	p.Gly89Val	rs1406041946	missense variant	-	NC_000023.11:g.64193021C>A	gnomAD
AMER1	Q5JTC6	p.Leu90Val	rs781369600	missense variant	-	NC_000023.11:g.64193019G>C	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu90Phe	rs781369600	missense variant	-	NC_000023.11:g.64193019G>A	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu90Ile	rs781369600	missense variant	-	NC_000023.11:g.64193019G>T	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser91Gly	RCV000593697	missense variant	-	NC_000023.11:g.64193016T>C	ClinVar
AMER1	Q5JTC6	p.Ser91Gly	rs1555933649	missense variant	-	NC_000023.11:g.64193016T>C	-
AMER1	Q5JTC6	p.Lys92Glu	rs772656826	missense variant	-	NC_000023.11:g.64193013T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser93Asn	rs1292666084	missense variant	-	NC_000023.11:g.64193009C>T	gnomAD
AMER1	Q5JTC6	p.Lys94Asn	rs771626073	missense variant	-	NC_000023.11:g.64193005C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Thr95Ile	rs1412024807	missense variant	-	NC_000023.11:g.64193003G>A	TOPMed
AMER1	Q5JTC6	p.Asp97Asn	rs1350779419	missense variant	-	NC_000023.11:g.64192998C>T	gnomAD
AMER1	Q5JTC6	p.Asp97Gly	rs1414795004	missense variant	-	NC_000023.11:g.64192997T>C	TOPMed
AMER1	Q5JTC6	p.Ser100Gly	rs1328313050	missense variant	-	NC_000023.11:g.64192989T>C	gnomAD
AMER1	Q5JTC6	p.Ala103Thr	rs944950970	missense variant	-	NC_000023.11:g.64192980C>T	gnomAD
AMER1	Q5JTC6	p.His104Leu	rs149109618	missense variant	-	NC_000023.11:g.64192976T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.His104Arg	rs149109618	missense variant	-	NC_000023.11:g.64192976T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.His104Asp	rs746279728	missense variant	-	NC_000023.11:g.64192977G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly105Val	rs1428526174	missense variant	-	NC_000023.11:g.64192973C>A	gnomAD
AMER1	Q5JTC6	p.Glu112Lys	rs764161315	missense variant	-	NC_000023.11:g.64192953C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly113Arg	rs758505952	missense variant	-	NC_000023.11:g.64192950C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Thr114Ser	rs1467013819	missense variant	-	NC_000023.11:g.64192946G>C	gnomAD
AMER1	Q5JTC6	p.Ser117Cys	rs1198543372	missense variant	-	NC_000023.11:g.64192937G>C	TOPMed
AMER1	Q5JTC6	p.Ser117Cys	RCV000597832	missense variant	-	NC_000023.11:g.64192937G>C	ClinVar
AMER1	Q5JTC6	p.Pro119Arg	rs759519548	missense variant	-	NC_000023.11:g.64192931G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro119Ala	rs1309286579	missense variant	-	NC_000023.11:g.64192932G>C	gnomAD
AMER1	Q5JTC6	p.Pro121Thr	rs776637853	missense variant	-	NC_000023.11:g.64192926G>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu123Phe	rs766266442	missense variant	-	NC_000023.11:g.64192918T>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Phe127Ser	rs200397022	missense variant	-	NC_000023.11:g.64192907A>G	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro128Ser	rs1394216535	missense variant	-	NC_000023.11:g.64192905G>A	gnomAD
AMER1	Q5JTC6	p.Gln131His	rs747715726	missense variant	-	NC_000023.11:g.64192894C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala133Val	rs1167666179	missense variant	-	NC_000023.11:g.64192889G>A	gnomAD
AMER1	Q5JTC6	p.His134Tyr	rs770324787	missense variant	-	NC_000023.11:g.64192887G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.His134Leu	rs146489129	missense variant	-	NC_000023.11:g.64192886T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.His134Pro	rs146489129	missense variant	-	NC_000023.11:g.64192886T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly135Glu	rs1195123555	missense variant	-	NC_000023.11:g.64192883C>T	gnomAD
AMER1	Q5JTC6	p.Leu137Ser	rs1252176509	missense variant	-	NC_000023.11:g.64192877A>G	gnomAD
AMER1	Q5JTC6	p.Thr139Ala	rs1411299812	missense variant	-	NC_000023.11:g.64192872T>C	gnomAD
AMER1	Q5JTC6	p.Arg142Thr	rs747267454	missense variant	-	NC_000023.11:g.64192862C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Cys143Ter	RCV000022871	nonsense	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192858A>T	ClinVar
AMER1	Q5JTC6	p.Cys143Ter	rs387906722	stop gained	Osteopathia striata with cranial sclerosis (oscs)	NC_000023.11:g.64192858A>T	-
AMER1	Q5JTC6	p.Cys143Tyr	rs778083461	missense variant	-	NC_000023.11:g.64192859C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser146Phe	rs1374165181	missense variant	-	NC_000023.11:g.64192850G>A	TOPMed
AMER1	Q5JTC6	p.Ala148Gly	rs1249584243	missense variant	-	NC_000023.11:g.64192844G>C	gnomAD
AMER1	Q5JTC6	p.Ala150Thr	rs1282660397	missense variant	-	NC_000023.11:g.64192839C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala150Gly	rs753451245	missense variant	-	NC_000023.11:g.64192838G>C	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Ala150Asp	rs753451245	missense variant	-	NC_000023.11:g.64192838G>T	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Thr151Pro	rs766354344	missense variant	-	NC_000023.11:g.64192836T>G	ExAC
AMER1	Q5JTC6	p.Glu152Gln	rs772834481	missense variant	-	NC_000023.11:g.64192833C>G	ExAC
AMER1	Q5JTC6	p.Ala154Thr	rs1308131685	missense variant	-	NC_000023.11:g.64192827C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala156Thr	rs1371810064	missense variant	-	NC_000023.11:g.64192821C>T	gnomAD
AMER1	Q5JTC6	p.Phe159Leu	RCV000120008	missense variant	-	NC_000023.11:g.64192810A>C	ClinVar
AMER1	Q5JTC6	p.Phe159Leu	rs34677493	missense variant	-	NC_000023.11:g.64192810A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro160Ser	rs760337524	missense variant	-	NC_000023.11:g.64192809G>A	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Met162Val	rs768139000	missense variant	-	NC_000023.11:g.64192803T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro163Ser	rs762389559	missense variant	-	NC_000023.11:g.64192800G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Lys164Glu	rs777125067	missense variant	-	NC_000023.11:g.64192797T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro165Ser	rs771383753	missense variant	-	NC_000023.11:g.64192794G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly168Cys	rs747418392	missense variant	-	NC_000023.11:g.64192785C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly168Asp	rs1176557852	missense variant	-	NC_000023.11:g.64192784C>T	gnomAD
AMER1	Q5JTC6	p.Gly168Ser	rs747418392	missense variant	-	NC_000023.11:g.64192785C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly168Ala	rs1176557852	missense variant	-	NC_000023.11:g.64192784C>G	gnomAD
AMER1	Q5JTC6	p.Leu169Val	rs777973792	missense variant	-	NC_000023.11:g.64192782G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg177His	rs779222316	missense variant	-	NC_000023.11:g.64192757C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg177Cys	rs369902795	missense variant	-	NC_000023.11:g.64192758G>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg178Cys	rs376626895	missense variant	-	NC_000023.11:g.64192755G>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg178His	rs753930754	missense variant	-	NC_000023.11:g.64192754C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg180Gln	rs755983037	missense variant	-	NC_000023.11:g.64192748C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg180Trp	rs780162759	missense variant	-	NC_000023.11:g.64192749G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser182Asn	rs1415971598	missense variant	-	NC_000023.11:g.64192742C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Val184Ile	rs1210190530	missense variant	-	NC_000023.11:g.64192737C>T	gnomAD
AMER1	Q5JTC6	p.Thr185Asn	rs1314151624	missense variant	-	NC_000023.11:g.64192733G>T	gnomAD
AMER1	Q5JTC6	p.Gly186Arg	rs750271277	missense variant	-	NC_000023.11:g.64192731C>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala187Thr	rs1401042580	missense variant	-	NC_000023.11:g.64192728C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln189Arg	rs1455094602	missense variant	-	NC_000023.11:g.64192721T>C	gnomAD
AMER1	Q5JTC6	p.Glu191Ter	RCV000443715	nonsense	-	NC_000023.11:g.64192716C>A	ClinVar
AMER1	Q5JTC6	p.Glu191Ter	rs1057520610	stop gained	-	NC_000023.11:g.64192716C>A	-
AMER1	Q5JTC6	p.Ala194Thr	rs761582333	missense variant	-	NC_000023.11:g.64192707C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly196Trp	rs751224138	missense variant	-	NC_000023.11:g.64192701C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly196Arg	rs751224138	missense variant	-	NC_000023.11:g.64192701C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro197Thr	rs762477559	missense variant	-	NC_000023.11:g.64192698G>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu198Lys	rs774927630	missense variant	-	NC_000023.11:g.64192695C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Val200Phe	rs771513377	missense variant	-	NC_000023.11:g.64192689C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala202Gly	rs1040925879	missense variant	-	NC_000023.11:g.64192682G>C	TOPMed,gnomAD
AMER1	Q5JTC6	p.His205Arg	rs1262620539	missense variant	-	NC_000023.11:g.64192673T>C	gnomAD
AMER1	Q5JTC6	p.Val208Met	rs772338892	missense variant	-	NC_000023.11:g.64192665C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser209Cys	rs748480637	missense variant	-	NC_000023.11:g.64192662T>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser209Ile	rs1234332616	missense variant	-	NC_000023.11:g.64192661C>A	gnomAD
AMER1	Q5JTC6	p.Ser210Leu	rs779310326	missense variant	-	NC_000023.11:g.64192658G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser210Pro	rs976430958	missense variant	-	NC_000023.11:g.64192659A>G	TOPMed
AMER1	Q5JTC6	p.Ala211Thr	rs1175084390	missense variant	-	NC_000023.11:g.64192656C>T	TOPMed
AMER1	Q5JTC6	p.Pro212Leu	rs1378122287	missense variant	-	NC_000023.11:g.64192652G>A	TOPMed
AMER1	Q5JTC6	p.Gln213Arg	rs749429391	missense variant	-	NC_000023.11:g.64192649T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro215Ser	rs756142618	missense variant	-	NC_000023.11:g.64192644G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu219Ter	RCV000505557	frameshift	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192633del	ClinVar
AMER1	Q5JTC6	p.Glu219Lys	rs1383586883	missense variant	-	NC_000023.11:g.64192632C>T	gnomAD
AMER1	Q5JTC6	p.Thr220Ile	rs202069335	missense variant	-	NC_000023.11:g.64192628G>A	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Thr220Ser	rs202069335	missense variant	-	NC_000023.11:g.64192628G>C	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Thr220Asn	rs202069335	missense variant	-	NC_000023.11:g.64192628G>T	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln222Arg	rs375008897	missense variant	-	NC_000023.11:g.64192622T>C	ESP
AMER1	Q5JTC6	p.Gln222Glu	rs1319609386	missense variant	-	NC_000023.11:g.64192623G>C	gnomAD
AMER1	Q5JTC6	p.Ala223Thr	rs1461828261	missense variant	-	NC_000023.11:g.64192620C>T	gnomAD
AMER1	Q5JTC6	p.Pro224Ter	RCV000011450	frameshift	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192619del	ClinVar
AMER1	Q5JTC6	p.Asn228Ile	rs140299861	missense variant	-	NC_000023.11:g.64192604T>A	ESP,ExAC,gnomAD
AMER1	Q5JTC6	p.Pro231Ala	rs763754641	missense variant	-	NC_000023.11:g.64192596G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln232His	rs763371059	missense variant	-	NC_000023.11:g.64192591T>A	1000Genomes
AMER1	Q5JTC6	p.Gln232Pro	rs762567310	missense variant	-	NC_000023.11:g.64192592T>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp233His	rs146685042	missense variant	-	NC_000023.11:g.64192590C>G	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp233Tyr	rs146685042	missense variant	-	NC_000023.11:g.64192590C>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala234Val	rs764643650	missense variant	-	NC_000023.11:g.64192586G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly236Glu	rs1247681502	missense variant	-	NC_000023.11:g.64192580C>T	gnomAD
AMER1	Q5JTC6	p.Gly236Arg	rs1322854723	missense variant	-	NC_000023.11:g.64192581C>T	TOPMed
AMER1	Q5JTC6	p.Pro237Ter	RCV000492795	frameshift	-	NC_000023.11:g.64192582del	ClinVar
AMER1	Q5JTC6	p.Lys238Glu	rs1214698838	missense variant	-	NC_000023.11:g.64192575T>C	gnomAD
AMER1	Q5JTC6	p.Ser240Tyr	rs1470153305	missense variant	-	NC_000023.11:g.64192568G>T	gnomAD
AMER1	Q5JTC6	p.Pro241Ser	rs1271751294	missense variant	-	NC_000023.11:g.64192566G>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro243Ala	rs1213657177	missense variant	-	NC_000023.11:g.64192560G>C	TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro243Ser	rs1213657177	missense variant	-	NC_000023.11:g.64192560G>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro245His	rs1050642982	missense variant	-	NC_000023.11:g.64192553G>T	gnomAD
AMER1	Q5JTC6	p.Pro247Ser	rs759031456	missense variant	-	NC_000023.11:g.64192548G>A	ExAC,TOPMed
AMER1	Q5JTC6	p.Pro247Leu	rs1351788055	missense variant	-	NC_000023.11:g.64192547G>A	TOPMed
AMER1	Q5JTC6	p.Pro248Thr	rs149688443	missense variant	-	NC_000023.11:g.64192545G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala249Thr	rs768029529	missense variant	-	NC_000023.11:g.64192542C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu251Gly	rs1324318011	missense variant	-	NC_000023.11:g.64192535T>C	gnomAD
AMER1	Q5JTC6	p.Cys255Phe	rs139477886	missense variant	-	NC_000023.11:g.64192523C>A	ESP,TOPMed,gnomAD
AMER1	Q5JTC6	p.Cys255Tyr	rs139477886	missense variant	-	NC_000023.11:g.64192523C>T	ESP,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp257Ter	RCV000756989	frameshift	-	NC_000023.11:g.64192521dup	ClinVar
AMER1	Q5JTC6	p.Glu259Val	rs1404713868	missense variant	-	NC_000023.11:g.64192511T>A	gnomAD
AMER1	Q5JTC6	p.Pro261Ser	rs770333199	missense variant	-	NC_000023.11:g.64192506G>A	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Pro261Ter	RCV000011451	frameshift	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192511dup	ClinVar
AMER1	Q5JTC6	p.Glu263Val	rs749517394	missense variant	-	NC_000023.11:g.64192499T>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala264Thr	RCV000120003	missense variant	-	NC_000023.11:g.64192497C>T	ClinVar
AMER1	Q5JTC6	p.Ala264Thr	rs150929706	missense variant	-	NC_000023.11:g.64192497C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.His269Arg	rs781019812	missense variant	-	NC_000023.11:g.64192481T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.His269Leu	rs781019812	missense variant	-	NC_000023.11:g.64192481T>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Val270Met	rs757166034	missense variant	-	NC_000023.11:g.64192479C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln271Ter	RCV000030706	nonsense	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192476G>A	ClinVar
AMER1	Q5JTC6	p.Gln271Ter	rs387907269	stop gained	Osteopathia striata with cranial sclerosis (oscs)	NC_000023.11:g.64192476G>A	-
AMER1	Q5JTC6	p.Pro272Leu	rs1235910533	missense variant	-	NC_000023.11:g.64192472G>A	TOPMed
AMER1	Q5JTC6	p.Pro274Ser	rs746852073	missense variant	-	NC_000023.11:g.64192467G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala275Thr	rs958633014	missense variant	-	NC_000023.11:g.64192464C>T	TOPMed
AMER1	Q5JTC6	p.Glu277Lys	rs777543770	missense variant	-	NC_000023.11:g.64192458C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala278Ser	RCV000120004	missense variant	-	NC_000023.11:g.64192455C>A	ClinVar
AMER1	Q5JTC6	p.Ala278Ser	rs35718712	missense variant	-	NC_000023.11:g.64192455C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser279Gly	rs587778024	missense variant	-	NC_000023.11:g.64192452T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser279Gly	RCV000119995	missense variant	-	NC_000023.11:g.64192452T>C	ClinVar
AMER1	Q5JTC6	p.Ser280Arg	rs764880640	missense variant	-	NC_000023.11:g.64192447G>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.His285Arg	rs747197554	missense variant	-	NC_000023.11:g.64192433T>C	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Thr289Ile	rs1005392946	missense variant	-	NC_000023.11:g.64192421G>A	TOPMed
AMER1	Q5JTC6	p.Gly290Glu	rs1435543004	missense variant	-	NC_000023.11:g.64192418C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly290Arg	rs1300950063	missense variant	-	NC_000023.11:g.64192419C>T	gnomAD
AMER1	Q5JTC6	p.Glu291Lys	rs774922675	missense variant	-	NC_000023.11:g.64192416C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Lys292Asn	RCV000120006	missense variant	-	NC_000023.11:g.64192411C>G	ClinVar
AMER1	Q5JTC6	p.Lys292Asn	rs138948924	missense variant	-	NC_000023.11:g.64192411C>G	UniProt,dbSNP
AMER1	Q5JTC6	p.Lys292Asn	VAR_031304	missense variant	-	NC_000023.11:g.64192411C>G	UniProt
AMER1	Q5JTC6	p.Lys292Asn	rs138948924	missense variant	-	NC_000023.11:g.64192411C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Val294Glu	rs1390506851	missense variant	-	NC_000023.11:g.64192406A>T	gnomAD
AMER1	Q5JTC6	p.Ala295Thr	rs754747475	missense variant	-	NC_000023.11:g.64192404C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu297Gly	rs775578747	missense variant	-	NC_000023.11:g.64192397T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Val298Ile	rs1393546514	missense variant	-	NC_000023.11:g.64192395C>T	gnomAD
AMER1	Q5JTC6	p.Pro300Thr	rs745954685	missense variant	-	NC_000023.11:g.64192389G>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro300Ala	rs745954685	missense variant	-	NC_000023.11:g.64192389G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro301Ser	rs776745995	missense variant	-	NC_000023.11:g.64192386G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro301Thr	rs776745995	missense variant	-	NC_000023.11:g.64192386G>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro301His	rs770891229	missense variant	-	NC_000023.11:g.64192385G>T	ExAC
AMER1	Q5JTC6	p.Asn302Ser	rs1235049855	missense variant	-	NC_000023.11:g.64192382T>C	gnomAD
AMER1	Q5JTC6	p.Gly303Asp	RCV000120007	missense variant	-	NC_000023.11:g.64192379C>T	ClinVar
AMER1	Q5JTC6	p.Gly303Asp	rs200552684	missense variant	-	NC_000023.11:g.64192379C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly306Ala	rs1177381002	missense variant	-	NC_000023.11:g.64192370C>G	TOPMed
AMER1	Q5JTC6	p.Pro308Gln	rs143958560	missense variant	-	NC_000023.11:g.64192364G>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser310Arg	rs1418033358	missense variant	-	NC_000023.11:g.64192357G>T	TOPMed
AMER1	Q5JTC6	p.Ser310Asn	rs200339567	missense variant	-	NC_000023.11:g.64192358C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu312Phe	rs140069386	missense variant	-	NC_000023.11:g.64192351C>G	ESP,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp315Glu	rs1351147002	missense variant	-	NC_000023.11:g.64192342A>T	gnomAD
AMER1	Q5JTC6	p.Lys320Gln	rs1236821690	missense variant	-	NC_000023.11:g.64192329T>G	gnomAD
AMER1	Q5JTC6	p.Thr326Ala	rs758208915	missense variant	-	NC_000023.11:g.64192311T>C	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Gly329Asp	rs1462336228	missense variant	-	NC_000023.11:g.64192301C>T	TOPMed
AMER1	Q5JTC6	p.Ile332Met	rs1416772696	missense variant	-	NC_000023.11:g.64192291T>C	gnomAD
AMER1	Q5JTC6	p.Ile332Val	rs765907873	missense variant	-	NC_000023.11:g.64192293T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln335Glu	rs757897232	missense variant	-	NC_000023.11:g.64192284G>C	ExAC
AMER1	Q5JTC6	p.Asp336Glu	rs752123255	missense variant	-	NC_000023.11:g.64192279G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Met340Leu	rs1226654010	missense variant	-	NC_000023.11:g.64192269T>A	gnomAD
AMER1	Q5JTC6	p.Ser343Ile	rs764628121	missense variant	-	NC_000023.11:g.64192259C>A	ExAC
AMER1	Q5JTC6	p.Ala345Val	rs763438860	missense variant	-	NC_000023.11:g.64192253G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala345Val	RCV000190541	missense variant	Spinocerebellar ataxia, X-linked	NC_000023.11:g.64192253G>A	ClinVar
AMER1	Q5JTC6	p.Gly347Arg	rs923507144	missense variant	-	NC_000023.11:g.64192248C>T	TOPMed
AMER1	Q5JTC6	p.Ala351Thr	rs753054242	missense variant	-	NC_000023.11:g.64192236C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg353Ter	RCV000011453	nonsense	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192230G>A	ClinVar
AMER1	Q5JTC6	p.Arg353Gln	rs1157288902	missense variant	-	NC_000023.11:g.64192229C>T	gnomAD
AMER1	Q5JTC6	p.Arg353Ter	rs137852216	stop gained	Osteopathia striata with cranial sclerosis (oscs)	NC_000023.11:g.64192230G>A	-
AMER1	Q5JTC6	p.Arg358Ter	RCV000624757	nonsense	Inborn genetic diseases	NC_000023.11:g.64192215G>A	ClinVar
AMER1	Q5JTC6	p.Arg358Ter	RCV000303504	nonsense	-	NC_000023.11:g.64192215G>A	ClinVar
AMER1	Q5JTC6	p.Arg358Ter	RCV000011454	nonsense	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192215G>A	ClinVar
AMER1	Q5JTC6	p.Arg358Gln	rs374751715	missense variant	-	NC_000023.11:g.64192214C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg358Ter	rs137852217	stop gained	Osteopathia striata with cranial sclerosis (oscs)	NC_000023.11:g.64192215G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser359Thr	rs1235327141	missense variant	-	NC_000023.11:g.64192211C>G	gnomAD
AMER1	Q5JTC6	p.Ser359Cys	rs771015941	missense variant	-	NC_000023.11:g.64192212T>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser360Pro	rs760684276	missense variant	-	NC_000023.11:g.64192209A>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser360Phe	rs943717871	missense variant	-	NC_000023.11:g.64192208G>A	TOPMed
AMER1	Q5JTC6	p.Val363Met	rs1482068076	missense variant	-	NC_000023.11:g.64192200C>T	TOPMed
AMER1	Q5JTC6	p.Tyr365Cys	rs1286062627	missense variant	-	NC_000023.11:g.64192193T>C	gnomAD
AMER1	Q5JTC6	p.Gln366Glu	rs771949790	missense variant	-	NC_000023.11:g.64192191G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu371Gly	rs747944110	missense variant	-	NC_000023.11:g.64192175T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Met372Leu	rs371680913	missense variant	-	NC_000023.11:g.64192173T>A	ESP,TOPMed
AMER1	Q5JTC6	p.Ala373Ser	rs1371092969	missense variant	-	NC_000023.11:g.64192170C>A	gnomAD
AMER1	Q5JTC6	p.Leu374Ser	rs778737659	missense variant	-	NC_000023.11:g.64192166A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro375Thr	rs1170189358	missense variant	-	NC_000023.11:g.64192164G>T	gnomAD
AMER1	Q5JTC6	p.Asp376Gly	rs1353652548	missense variant	-	NC_000023.11:g.64192160T>C	TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp376Tyr	rs1235155078	missense variant	-	NC_000023.11:g.64192161C>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp376Ala	rs1353652548	missense variant	-	NC_000023.11:g.64192160T>G	TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp377Tyr	rs768260912	missense variant	-	NC_000023.11:g.64192158C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu380Lys	rs754922124	missense variant	-	NC_000023.11:g.64192149C>T	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Glu382Ala	rs1172277012	missense variant	-	NC_000023.11:g.64192142T>G	TOPMed
AMER1	Q5JTC6	p.Glu383Asp	rs749911156	missense variant	-	NC_000023.11:g.64192138T>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu383Gln	rs1316636335	missense variant	-	NC_000023.11:g.64192140C>G	gnomAD
AMER1	Q5JTC6	p.Glu384Asp	rs778443722	missense variant	-	NC_000023.11:g.64192135C>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu385Gln	rs368719613	missense variant	-	NC_000023.11:g.64192134C>G	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Val388Met	rs765627552	missense variant	-	NC_000023.11:g.64192125C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu390Ser	rs759765512	missense variant	-	NC_000023.11:g.64192118A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu394Gly	rs188801666	missense variant	-	NC_000023.11:g.64192106T>C	1000Genomes
AMER1	Q5JTC6	p.Glu395Asp	rs766550265	missense variant	-	NC_000023.11:g.64192102C>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Val397Phe	rs760770029	missense variant	-	NC_000023.11:g.64192098C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu400Lys	rs772039801	missense variant	-	NC_000023.11:g.64192089C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu401Gly	rs765850746	missense variant	-	NC_000023.11:g.64192085T>C	1000Genomes,ExAC,TOPMed
AMER1	Q5JTC6	p.Asp403Gly	rs755635008	missense variant	-	NC_000023.11:g.64192079T>C	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Asp404His	rs768509696	missense variant	-	NC_000023.11:g.64192077C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu409Gln	rs1486339845	missense variant	-	NC_000023.11:g.64192061A>T	TOPMed
AMER1	Q5JTC6	p.Glu411Lys	rs1434752067	missense variant	-	NC_000023.11:g.64192056C>T	gnomAD
AMER1	Q5JTC6	p.Ala413Val	rs750083174	missense variant	-	NC_000023.11:g.64192049G>A	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Ala413Thr	rs1277413519	missense variant	-	NC_000023.11:g.64192050C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln414His	rs769518623	missense variant	-	NC_000023.11:g.64192045T>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Met415Val	rs1486153175	missense variant	-	NC_000023.11:g.64192044T>C	TOPMed
AMER1	Q5JTC6	p.Met415Ter	RCV000255128	frameshift	-	NC_000023.11:g.64192034_64192050del	ClinVar
AMER1	Q5JTC6	p.Tyr416Cys	rs1460320166	missense variant	-	NC_000023.11:g.64192040T>C	gnomAD
AMER1	Q5JTC6	p.Pro417Thr	rs745417672	missense variant	-	NC_000023.11:g.64192038G>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg418Trp	RCV000612754	missense variant	-	NC_000023.11:g.64192035G>A	ClinVar
AMER1	Q5JTC6	p.Arg418Trp	rs372775016	missense variant	-	NC_000023.11:g.64192035G>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg418Gln	rs758890390	missense variant	-	NC_000023.11:g.64192034C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro419Ser	rs1453619835	missense variant	-	NC_000023.11:g.64192032G>A	TOPMed
AMER1	Q5JTC6	p.Asn420Ser	rs1341891064	missense variant	-	NC_000023.11:g.64192028T>C	gnomAD
AMER1	Q5JTC6	p.Leu423Ter	RCV000030705	frameshift	Osteopathia striata with cranial sclerosis (OSCS)	NC_000023.11:g.64192021del	ClinVar
AMER1	Q5JTC6	p.Gly424Asp	rs1003241107	missense variant	-	NC_000023.11:g.64192016C>T	TOPMed
AMER1	Q5JTC6	p.Thr428Ile	rs201965033	missense variant	-	NC_000023.11:g.64192004G>A	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro431Leu	rs755403379	missense variant	-	NC_000023.11:g.64191995G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro431Ser	rs1395933177	missense variant	-	NC_000023.11:g.64191996G>A	TOPMed
AMER1	Q5JTC6	p.Gly432Val	rs754155510	missense variant	-	NC_000023.11:g.64191992C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.His433Pro	rs766638131	missense variant	-	NC_000023.11:g.64191989T>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.His434Tyr	rs756299099	missense variant	-	NC_000023.11:g.64191987G>A	ExAC
AMER1	Q5JTC6	p.Gly435Asp	rs1309347591	missense variant	-	NC_000023.11:g.64191983C>T	gnomAD
AMER1	Q5JTC6	p.Gly435Ser	rs767572122	missense variant	-	NC_000023.11:g.64191984C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Met437Val	rs774349963	missense variant	-	NC_000023.11:g.64191978T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu438Phe	rs763896843	missense variant	-	NC_000023.11:g.64191975G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp440Asn	rs1306045176	missense variant	-	NC_000023.11:g.64191969C>T	gnomAD
AMER1	Q5JTC6	p.Arg443Ser	rs368249962	missense variant	-	NC_000023.11:g.64191958C>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Tyr445Phe	rs1367502273	missense variant	-	NC_000023.11:g.64191953T>A	gnomAD
AMER1	Q5JTC6	p.Pro446Arg	rs1050530502	missense variant	-	NC_000023.11:g.64191950G>C	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly447Val	rs769608759	missense variant	-	NC_000023.11:g.64191947C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly447Arg	rs775399750	missense variant	-	NC_000023.11:g.64191948C>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly447Asp	rs769608759	missense variant	-	NC_000023.11:g.64191947C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu448Pro	rs141789259	missense variant	-	NC_000023.11:g.64191944A>G	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu448Ile	rs745507104	missense variant	-	NC_000023.11:g.64191945G>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala449Gly	rs770483231	missense variant	-	NC_000023.11:g.64191941G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro450Ter	RCV000523724	frameshift	-	NC_000023.11:g.64191940_64191943dup	ClinVar
AMER1	Q5JTC6	p.Gly451Arg	rs111632683	missense variant	-	NC_000023.11:g.64191936C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu453Val	rs1424300049	missense variant	-	NC_000023.11:g.64191930G>C	gnomAD
AMER1	Q5JTC6	p.Thr455Ser	rs755420795	missense variant	-	NC_000023.11:g.64191923G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro456Leu	rs1249739984	missense variant	-	NC_000023.11:g.64191920G>A	gnomAD
AMER1	Q5JTC6	p.Gln457Pro	rs780393025	missense variant	-	NC_000023.11:g.64191917T>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser458Arg	rs756387100	missense variant	-	NC_000023.11:g.64191913A>C	ExAC
AMER1	Q5JTC6	p.Gln461Glu	rs1486120029	missense variant	-	NC_000023.11:g.64191906G>C	gnomAD
AMER1	Q5JTC6	p.Glu462Asp	rs1282807993	missense variant	-	NC_000023.11:g.64191901T>G	gnomAD
AMER1	Q5JTC6	p.Ala464Thr	rs767567473	missense variant	-	NC_000023.11:g.64191897C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asn466His	rs1308295407	missense variant	-	NC_000023.11:g.64191891T>G	gnomAD
AMER1	Q5JTC6	p.Asp473His	rs1349239165	missense variant	-	NC_000023.11:g.64191870C>G	gnomAD
AMER1	Q5JTC6	p.Gly478Val	rs751544083	missense variant	-	NC_000023.11:g.64191854C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp481Asn	rs764138137	missense variant	-	NC_000023.11:g.64191846C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly488Glu	rs1309773839	missense variant	-	NC_000023.11:g.64191824C>T	gnomAD
AMER1	Q5JTC6	p.Val490Leu	rs1464297548	missense variant	-	NC_000023.11:g.64191819C>G	TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg491Cys	rs775489804	missense variant	-	NC_000023.11:g.64191816G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg491His	rs370645786	missense variant	-	NC_000023.11:g.64191815C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg492Met	rs759341836	missense variant	-	NC_000023.11:g.64191812C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp493Val	rs765618758	missense variant	-	NC_000023.11:g.64191809T>A	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Asp493Asn	rs776457771	missense variant	-	NC_000023.11:g.64191810C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg497Gln	rs1259792397	missense variant	-	NC_000023.11:g.64191797C>T	gnomAD
AMER1	Q5JTC6	p.Ala504Val	rs772566724	missense variant	-	NC_000023.11:g.64191776G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu507Gly	rs780483016	missense variant	-	NC_000023.11:g.64191767T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Phe508Leu	rs1288332581	missense variant	-	NC_000023.11:g.64191763G>T	gnomAD
AMER1	Q5JTC6	p.Glu510Asp	rs377478912	missense variant	-	NC_000023.11:g.64191757C>G	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp513Gly	rs1314383467	missense variant	-	NC_000023.11:g.64191749T>C	gnomAD
AMER1	Q5JTC6	p.Asn517Ser	rs757398465	missense variant	-	NC_000023.11:g.64191737T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly521Glu	rs777705870	missense variant	-	NC_000023.11:g.64191725C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Cys524Arg	rs758465866	missense variant	-	NC_000023.11:g.64191717A>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Cys524Tyr	rs1386291582	missense variant	-	NC_000023.11:g.64191716C>T	gnomAD
AMER1	Q5JTC6	p.Leu525Phe	rs752691441	missense variant	-	NC_000023.11:g.64191714G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.His529Arg	rs1157097245	missense variant	-	NC_000023.11:g.64191701T>C	TOPMed
AMER1	Q5JTC6	p.Arg531Gln	rs904761868	missense variant	-	NC_000023.11:g.64191695C>T	gnomAD
AMER1	Q5JTC6	p.Glu534Gln	rs1407306522	missense variant	-	NC_000023.11:g.64191687C>G	TOPMed
AMER1	Q5JTC6	p.Met535Val	rs931047744	missense variant	-	NC_000023.11:g.64191684T>C	TOPMed,gnomAD
AMER1	Q5JTC6	p.Met535Ile	rs753556995	missense variant	-	NC_000023.11:g.64191682C>G	ExAC
AMER1	Q5JTC6	p.Met535Lys	rs145468055	missense variant	-	NC_000023.11:g.64191683A>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro544Ser	rs772837332	missense variant	-	NC_000023.11:g.64191657G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu546Trp	rs771498491	missense variant	-	NC_000023.11:g.64191650A>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu546Val	rs1373726900	missense variant	-	NC_000023.11:g.64191651A>C	TOPMed
AMER1	Q5JTC6	p.Ser548Ala	rs199759487	missense variant	-	NC_000023.11:g.64191645A>C	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Arg549Trp	rs746279756	missense variant	-	NC_000023.11:g.64191642G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg549Gln	rs937173075	missense variant	-	NC_000023.11:g.64191641C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro550Thr	rs1278635563	missense variant	-	NC_000023.11:g.64191639G>T	TOPMed
AMER1	Q5JTC6	p.Pro551Leu	rs1373382264	missense variant	-	NC_000023.11:g.64191635G>A	TOPMed
AMER1	Q5JTC6	p.Pro551Ala	rs143103708	missense variant	-	NC_000023.11:g.64191636G>C	ESP,gnomAD
AMER1	Q5JTC6	p.Gly552Trp	rs1436928166	missense variant	-	NC_000023.11:g.64191633C>A	gnomAD
AMER1	Q5JTC6	p.Met554Thr	rs781376367	missense variant	-	NC_000023.11:g.64191626A>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu558Lys	rs1319754136	missense variant	-	NC_000023.11:g.64191615C>T	gnomAD
AMER1	Q5JTC6	p.Arg560Trp	rs200798538	missense variant	-	NC_000023.11:g.64191609G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg560Gln	rs758585592	missense variant	-	NC_000023.11:g.64191608C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Val562Met	rs752777393	missense variant	-	NC_000023.11:g.64191603C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu569Met	rs779046656	missense variant	-	NC_000023.11:g.64191582A>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg574Gln	RCV000119998	missense variant	-	NC_000023.11:g.64191566C>T	ClinVar
AMER1	Q5JTC6	p.Arg574Gln	rs587778025	missense variant	-	NC_000023.11:g.64191566C>T	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg574Trp	rs754938624	missense variant	-	NC_000023.11:g.64191567G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg575Gln	rs373710390	missense variant	-	NC_000023.11:g.64191563C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala580Thr	rs1207495584	missense variant	-	NC_000023.11:g.64191549C>T	gnomAD
AMER1	Q5JTC6	p.Arg584Cys	rs370276785	missense variant	-	NC_000023.11:g.64191537G>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg584His	rs773828754	missense variant	-	NC_000023.11:g.64191536C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala585Val	rs770324959	missense variant	-	NC_000023.11:g.64191533G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg586Gln	rs1179031603	missense variant	-	NC_000023.11:g.64191530C>T	TOPMed
AMER1	Q5JTC6	p.Arg586Gly	rs760028378	missense variant	-	NC_000023.11:g.64191531G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.His589Tyr	rs777108199	missense variant	-	NC_000023.11:g.64191522G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg591Lys	rs1332742060	missense variant	-	NC_000023.11:g.64191515C>T	gnomAD
AMER1	Q5JTC6	p.Glu592Asp	rs1321518379	missense variant	-	NC_000023.11:g.64191511C>G	gnomAD
AMER1	Q5JTC6	p.Ala593Thr	rs771210621	missense variant	-	NC_000023.11:g.64191510C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala593Ser	rs771210621	missense variant	-	NC_000023.11:g.64191510C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.His594Gln	rs773332902	missense variant	-	NC_000023.11:g.64191505G>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala595Thr	rs149055969	missense variant	-	NC_000023.11:g.64191504C>T	ESP,ExAC,gnomAD
AMER1	Q5JTC6	p.Tyr599Cys	RCV000119991	missense variant	-	NC_000023.11:g.64191491T>C	ClinVar
AMER1	Q5JTC6	p.Tyr599Cys	rs144896730	missense variant	-	NC_000023.11:g.64191491T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Thr600Ser	rs779133193	missense variant	-	NC_000023.11:g.64191488G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Thr600Ile	rs779133193	missense variant	-	NC_000023.11:g.64191488G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg601Gln	rs149865410	missense variant	-	NC_000023.11:g.64191485C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala603Thr	rs779976787	missense variant	-	NC_000023.11:g.64191480C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala603Ser	rs779976787	missense variant	-	NC_000023.11:g.64191480C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Tyr604Cys	RCV000119992	missense variant	-	NC_000023.11:g.64191476T>C	ClinVar
AMER1	Q5JTC6	p.Tyr604Cys	rs587778023	missense variant	-	NC_000023.11:g.64191476T>C	-
AMER1	Q5JTC6	p.Gly605Val	rs957383245	missense variant	-	NC_000023.11:g.64191473C>A	TOPMed
AMER1	Q5JTC6	p.Arg606Lys	rs1198818173	missense variant	-	NC_000023.11:g.64191470C>T	gnomAD
AMER1	Q5JTC6	p.Glu607Lys	rs1450490839	missense variant	-	NC_000023.11:g.64191468C>T	gnomAD
AMER1	Q5JTC6	p.Glu607Gly	rs1251883762	missense variant	-	NC_000023.11:g.64191467T>C	gnomAD
AMER1	Q5JTC6	p.Ala608Asp	rs755894661	missense variant	-	NC_000023.11:g.64191464G>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala608Val	rs755894661	missense variant	-	NC_000023.11:g.64191464G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala610Val	rs1233790837	missense variant	-	NC_000023.11:g.64191458G>A	TOPMed
AMER1	Q5JTC6	p.Ala610Gly	rs1233790837	missense variant	-	NC_000023.11:g.64191458G>C	TOPMed
AMER1	Q5JTC6	p.Arg611Lys	rs1273547541	missense variant	-	NC_000023.11:g.64191455C>T	gnomAD
AMER1	Q5JTC6	p.Ala613Asp	rs748406545	missense variant	-	NC_000023.11:g.64191449G>T	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.His614Gln	rs1295086973	missense variant	-	NC_000023.11:g.64191445G>T	TOPMed
AMER1	Q5JTC6	p.Thr615Asn	rs767204320	missense variant	-	NC_000023.11:g.64191443G>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu617Lys	rs756872620	missense variant	-	NC_000023.11:g.64191438C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu617Gly	rs751132452	missense variant	-	NC_000023.11:g.64191437T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly620Asp	rs763577174	missense variant	-	NC_000023.11:g.64191428C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Thr625Ala	RCV000119993	missense variant	-	NC_000023.11:g.64191414T>C	ClinVar
AMER1	Q5JTC6	p.Thr625Ala	rs142654101	missense variant	-	NC_000023.11:g.64191414T>C	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg626Gln	rs1370170733	missense variant	-	NC_000023.11:g.64191410C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg626Ter	rs1408150272	stop gained	-	NC_000023.11:g.64191411G>A	gnomAD
AMER1	Q5JTC6	p.Ala628Ser	rs1313722059	missense variant	-	NC_000023.11:g.64191405C>A	gnomAD
AMER1	Q5JTC6	p.Gln629Arg	rs766863778	missense variant	-	NC_000023.11:g.64191401T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln629Glu	rs1400545943	missense variant	-	NC_000023.11:g.64191402G>C	gnomAD
AMER1	Q5JTC6	p.Arg631Pro	rs773684332	missense variant	-	NC_000023.11:g.64191395C>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg631Gln	rs773684332	missense variant	-	NC_000023.11:g.64191395C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Val633Phe	rs772493411	missense variant	-	NC_000023.11:g.64191390C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Val633Gly	rs748367933	missense variant	-	NC_000023.11:g.64191389A>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg634His	rs778813513	missense variant	-	NC_000023.11:g.64191386C>T	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Cys635Tyr	rs768862604	missense variant	-	NC_000023.11:g.64191383C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu637Ter	RCV000627001	frameshift	Macrocephalus	NC_000023.11:g.64191376_64191377CT[2]	ClinVar
AMER1	Q5JTC6	p.Gln639Arg	rs779876963	missense variant	-	NC_000023.11:g.64191371T>C	ExAC
AMER1	Q5JTC6	p.Arg641Gln	rs1329771600	missense variant	-	NC_000023.11:g.64191365C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln644Glu	rs1290201140	missense variant	-	NC_000023.11:g.64191357G>C	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln644Leu	rs756054269	missense variant	-	NC_000023.11:g.64191356T>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala645Asp	rs768580323	missense variant	-	NC_000023.11:g.64191353G>T	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Arg646Pro	rs147754688	missense variant	-	NC_000023.11:g.64191350C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg646Trp	rs775711054	missense variant	-	NC_000023.11:g.64191351G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg646Gln	rs147754688	missense variant	-	NC_000023.11:g.64191350C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg646Leu	rs147754688	missense variant	-	NC_000023.11:g.64191350C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln647Arg	rs779918121	missense variant	-	NC_000023.11:g.64191347T>C	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro650His	rs1401714549	missense variant	-	NC_000023.11:g.64191338G>T	gnomAD
AMER1	Q5JTC6	p.Val651Ile	RCV000120000	missense variant	-	NC_000023.11:g.64191336C>T	ClinVar
AMER1	Q5JTC6	p.Val651Ile	rs587778026	missense variant	-	NC_000023.11:g.64191336C>T	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Val651Ala	rs1455147390	missense variant	-	NC_000023.11:g.64191335A>G	gnomAD
AMER1	Q5JTC6	p.Pro658Leu	rs773774270	missense variant	-	NC_000023.11:g.64191314G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly660Ser	rs768008290	missense variant	-	NC_000023.11:g.64191309C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro661Leu	rs904653038	missense variant	-	NC_000023.11:g.64191305G>A	TOPMed
AMER1	Q5JTC6	p.Met664Ile	rs1465193477	missense variant	-	NC_000023.11:g.64191295C>T	gnomAD
AMER1	Q5JTC6	p.Leu666Pro	rs774747000	missense variant	-	NC_000023.11:g.64191290A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly669Glu	rs1206766799	missense variant	-	NC_000023.11:g.64191281C>T	gnomAD
AMER1	Q5JTC6	p.Val670Leu	rs1226685472	missense variant	-	NC_000023.11:g.64191279C>A	TOPMed
AMER1	Q5JTC6	p.Gly672Glu	rs587778027	missense variant	-	NC_000023.11:g.64191272C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly672Glu	RCV000120001	missense variant	-	NC_000023.11:g.64191272C>T	ClinVar
AMER1	Q5JTC6	p.Ser674Cys	rs769686123	missense variant	-	NC_000023.11:g.64191266G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser674Tyr	rs769686123	missense variant	-	NC_000023.11:g.64191266G>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser677Pro	rs201053898	missense variant	-	NC_000023.11:g.64191258A>G	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg679Gln	rs777453882	missense variant	-	NC_000023.11:g.64191251C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg679Trp	rs41307359	missense variant	-	NC_000023.11:g.64191252G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly680Arg	rs1211707591	missense variant	-	NC_000023.11:g.64191249C>T	TOPMed
AMER1	Q5JTC6	p.Ile681Val	rs898205115	missense variant	-	NC_000023.11:g.64191246T>C	TOPMed
AMER1	Q5JTC6	p.Thr688Ile	rs1395903458	missense variant	-	NC_000023.11:g.64191224G>A	gnomAD
AMER1	Q5JTC6	p.Ala689Ser	rs756860796	missense variant	-	NC_000023.11:g.64191222C>A	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Ser691Asn	rs1406658299	missense variant	-	NC_000023.11:g.64191215C>T	gnomAD
AMER1	Q5JTC6	p.Glu692Lys	rs759613339	missense variant	-	NC_000023.11:g.64191213C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu692Gln	rs759613339	missense variant	-	NC_000023.11:g.64191213C>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg696Trp	rs1249641553	missense variant	-	NC_000023.11:g.64191201T>A	gnomAD
AMER1	Q5JTC6	p.Asp697Gly	rs928446095	missense variant	-	NC_000023.11:g.64191197T>C	TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg699Cys	rs1464385859	missense variant	-	NC_000023.11:g.64191192G>A	gnomAD
AMER1	Q5JTC6	p.Arg699His	rs750971248	missense variant	-	NC_000023.11:g.64191191C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu702Lys	rs1223791858	missense variant	-	NC_000023.11:g.64191183C>T	gnomAD
AMER1	Q5JTC6	p.Arg704His	rs768098639	missense variant	-	NC_000023.11:g.64191176C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg704Cys	rs1174971100	missense variant	-	NC_000023.11:g.64191177G>A	TOPMed
AMER1	Q5JTC6	p.Thr708Asn	rs764261510	missense variant	-	NC_000023.11:g.64191164G>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Thr708Ser	rs764261510	missense variant	-	NC_000023.11:g.64191164G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp713Glu	rs775490931	missense variant	-	NC_000023.11:g.64191148A>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Cys717Tyr	rs751217981	missense variant	-	NC_000023.11:g.64191137C>T	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Met719Ile	RCV000120002	missense variant	-	NC_000023.11:g.64191130C>T	ClinVar
AMER1	Q5JTC6	p.Met719Ile	rs142355260	missense variant	-	NC_000023.11:g.64191130C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln720His	rs770803269	missense variant	-	NC_000023.11:g.64191127C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln720Glu	rs776578776	missense variant	-	NC_000023.11:g.64191129G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Phe722Leu	rs746848263	missense variant	-	NC_000023.11:g.64191121G>T	ExAC
AMER1	Q5JTC6	p.Ser724Thr	rs981699309	missense variant	-	NC_000023.11:g.64191116C>G	TOPMed
AMER1	Q5JTC6	p.Ser724Arg	rs1347636416	missense variant	-	NC_000023.11:g.64191117T>G	gnomAD
AMER1	Q5JTC6	p.Asp725Glu	rs369699027	missense variant	-	NC_000023.11:g.64191112A>C	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu729Gln	rs771682818	missense variant	-	NC_000023.11:g.64191102C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln733Arg	rs778362977	missense variant	-	NC_000023.11:g.64191089T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln733Glu	rs1391706502	missense variant	-	NC_000023.11:g.64191090G>C	gnomAD
AMER1	Q5JTC6	p.Gln733Lys	rs1391706502	missense variant	-	NC_000023.11:g.64191090G>T	gnomAD
AMER1	Q5JTC6	p.Ala735Val	rs376200415	missense variant	-	NC_000023.11:g.64191083G>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asn736Asp	rs1192878898	missense variant	-	NC_000023.11:g.64191081T>C	gnomAD
AMER1	Q5JTC6	p.Gly738Ala	rs1246533879	missense variant	-	NC_000023.11:g.64191074C>G	gnomAD
AMER1	Q5JTC6	p.Gly739Arg	rs1487516768	missense variant	-	NC_000023.11:g.64191072C>T	gnomAD
AMER1	Q5JTC6	p.Ser740Cys	rs913123410	missense variant	-	NC_000023.11:g.64191068G>C	TOPMed
AMER1	Q5JTC6	p.Pro741Ser	rs781777369	missense variant	-	NC_000023.11:g.64191066G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala744Val	rs189503587	missense variant	-	NC_000023.11:g.64191056G>A	1000Genomes,ExAC
AMER1	Q5JTC6	p.Thr747Ile	rs764505956	missense variant	-	NC_000023.11:g.64191047G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser749Pro	rs372996310	missense variant	-	NC_000023.11:g.64191042A>G	ESP,ExAC,gnomAD
AMER1	Q5JTC6	p.Pro750Ser	rs148731565	missense variant	-	NC_000023.11:g.64191039G>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro750Leu	rs1303991079	missense variant	-	NC_000023.11:g.64191038G>A	gnomAD
AMER1	Q5JTC6	p.Pro750Thr	rs148731565	missense variant	-	NC_000023.11:g.64191039G>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro751Ser	rs765334366	missense variant	-	NC_000023.11:g.64191036G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro751Ala	rs765334366	missense variant	-	NC_000023.11:g.64191036G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp753Val	rs1409968711	missense variant	-	NC_000023.11:g.64191029T>A	gnomAD
AMER1	Q5JTC6	p.Asp753Tyr	rs759631856	missense variant	-	NC_000023.11:g.64191030C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu755Asp	rs776663048	missense variant	-	NC_000023.11:g.64191022C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu756Ter	RCV000485395	frameshift	-	NC_000023.11:g.64191022del	ClinVar
AMER1	Q5JTC6	p.Glu757Val	rs1305806833	missense variant	-	NC_000023.11:g.64191017T>A	gnomAD
AMER1	Q5JTC6	p.Val759Ile	rs369264970	missense variant	-	NC_000023.11:g.64191012C>T	ESP,ExAC,gnomAD
AMER1	Q5JTC6	p.Gly763Arg	rs760596448	missense variant	-	NC_000023.11:g.64191000C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Val767Met	rs754366188	missense variant	-	NC_000023.11:g.64190988C>T	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Ala772Val	rs1466483272	missense variant	-	NC_000023.11:g.64190972G>A	TOPMed
AMER1	Q5JTC6	p.Val774Ile	rs1424452703	missense variant	-	NC_000023.11:g.64190967C>T	gnomAD
AMER1	Q5JTC6	p.Glu775Gln	rs747857905	missense variant	-	NC_000023.11:g.64190964C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Asn779Ser	rs774076618	missense variant	-	NC_000023.11:g.64190951T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asn781Ser	rs1483729468	missense variant	-	NC_000023.11:g.64190945T>C	gnomAD
AMER1	Q5JTC6	p.Asn781Lys	rs144246257	missense variant	-	NC_000023.11:g.64190944G>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu782Pro	rs779704496	missense variant	-	NC_000023.11:g.64190942A>G	ExAC
AMER1	Q5JTC6	p.Met786Thr	rs1208549751	missense variant	-	NC_000023.11:g.64190930A>G	gnomAD
AMER1	Q5JTC6	p.Ser787Phe	rs747564770	missense variant	-	NC_000023.11:g.64190927G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Cys788Tyr	rs1269339307	missense variant	-	NC_000023.11:g.64190924C>T	gnomAD
AMER1	Q5JTC6	p.Ser790Phe	rs1266270293	missense variant	-	NC_000023.11:g.64190918G>A	gnomAD
AMER1	Q5JTC6	p.Ser792Thr	rs1351835013	missense variant	-	NC_000023.11:g.64190913A>T	gnomAD
AMER1	Q5JTC6	p.Ala812Thr	rs374879781	missense variant	-	NC_000023.11:g.64190853C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala812Ser	rs374879781	missense variant	-	NC_000023.11:g.64190853C>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg816Trp	rs765543269	missense variant	-	NC_000023.11:g.64190841G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp817Gly	rs753979230	missense variant	-	NC_000023.11:g.64190837T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp817Val	rs753979230	missense variant	-	NC_000023.11:g.64190837T>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp817His	rs1220943330	missense variant	-	NC_000023.11:g.64190838C>G	gnomAD
AMER1	Q5JTC6	p.Gly818Glu	rs1464406212	missense variant	-	NC_000023.11:g.64190834C>T	gnomAD
AMER1	Q5JTC6	p.Gly820Arg	rs978809037	missense variant	-	NC_000023.11:g.64190829C>G	TOPMed
AMER1	Q5JTC6	p.Cys822Phe	rs371470486	missense variant	-	NC_000023.11:g.64190822C>A	ESP,ExAC,gnomAD
AMER1	Q5JTC6	p.Glu827Ala	rs1303713983	missense variant	-	NC_000023.11:g.64190807T>G	TOPMed
AMER1	Q5JTC6	p.His829Gln	rs1334005803	missense variant	-	NC_000023.11:g.64190800G>T	TOPMed
AMER1	Q5JTC6	p.His829Arg	rs1458851862	missense variant	-	NC_000023.11:g.64190801T>C	gnomAD
AMER1	Q5JTC6	p.Asn830Asp	rs767309942	missense variant	-	NC_000023.11:g.64190799T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asn830Tyr	rs767309942	missense variant	-	NC_000023.11:g.64190799T>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp831Asn	rs1181603022	missense variant	-	NC_000023.11:g.64190796C>T	gnomAD
AMER1	Q5JTC6	p.Asp833Asn	rs1424612359	missense variant	-	NC_000023.11:g.64190790C>T	gnomAD
AMER1	Q5JTC6	p.Ala835Pro	rs200219038	missense variant	-	NC_000023.11:g.64190784C>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala840Thr	rs773987432	missense variant	-	NC_000023.11:g.64190769C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Tyr846Cys	rs549157600	missense variant	-	NC_000023.11:g.64190750T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Phe851Ser	rs1327757187	missense variant	-	NC_000023.11:g.64190735A>G	gnomAD
AMER1	Q5JTC6	p.Asn853Ser	rs200204006	missense variant	-	NC_000023.11:g.64190729T>C	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.His855Arg	rs1237782051	missense variant	-	NC_000023.11:g.64190723T>C	gnomAD
AMER1	Q5JTC6	p.Ser856Asn	rs1314447711	missense variant	-	NC_000023.11:g.64190720C>T	gnomAD
AMER1	Q5JTC6	p.Ser856Gly	rs778363299	missense variant	-	NC_000023.11:g.64190721T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg857Ter	rs1394000391	stop gained	-	NC_000023.11:g.64190718G>A	gnomAD
AMER1	Q5JTC6	p.Arg857Gln	rs758807218	missense variant	-	NC_000023.11:g.64190717C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg871Gln	rs755281117	missense variant	-	NC_000023.11:g.64190675C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly877Ser	rs1162990577	missense variant	-	NC_000023.11:g.64190658C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro880Ser	rs185526526	missense variant	-	NC_000023.11:g.64190649G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg881Ter	rs750449400	stop gained	-	NC_000023.11:g.64190646G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg881Gln	rs372769953	missense variant	-	NC_000023.11:g.64190645C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg881Leu	rs372769953	missense variant	-	NC_000023.11:g.64190645C>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro882Leu	rs751427137	missense variant	-	NC_000023.11:g.64190642G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro883Ser	rs763992808	missense variant	-	NC_000023.11:g.64190640G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro884Leu	RCV000441623	missense variant	-	NC_000023.11:g.64190636G>A	ClinVar
AMER1	Q5JTC6	p.Pro884Ala	rs775309548	missense variant	-	NC_000023.11:g.64190637G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro884Ser	rs775309548	missense variant	-	NC_000023.11:g.64190637G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro884Leu	rs201092215	missense variant	-	NC_000023.11:g.64190636G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Met887Val	rs1295447474	missense variant	-	NC_000023.11:g.64190628T>C	TOPMed
AMER1	Q5JTC6	p.Ala888Val	rs759131609	missense variant	-	NC_000023.11:g.64190624G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu889Phe	rs1230411654	missense variant	-	NC_000023.11:g.64190622G>A	gnomAD
AMER1	Q5JTC6	p.Asn890Lys	rs775971337	missense variant	-	NC_000023.11:g.64190617G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg892Lys	rs772696260	missense variant	-	NC_000023.11:g.64190612C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg894Cys	rs748618414	missense variant	-	NC_000023.11:g.64190607G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg894His	rs779325879	missense variant	-	NC_000023.11:g.64190606C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg894Leu	rs779325879	missense variant	-	NC_000023.11:g.64190606C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp897Asn	rs749609920	missense variant	-	NC_000023.11:g.64190598C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Thr901Ser	rs1391085816	missense variant	-	NC_000023.11:g.64190586T>A	gnomAD
AMER1	Q5JTC6	p.Ser907Thr	rs1170858720	missense variant	-	NC_000023.11:g.64190568A>T	gnomAD
AMER1	Q5JTC6	p.Ser909Tyr	rs1372940225	missense variant	-	NC_000023.11:g.64190561G>T	gnomAD
AMER1	Q5JTC6	p.Gly914Asp	rs750585107	missense variant	-	NC_000023.11:g.64190546C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu916Phe	rs781115849	missense variant	-	NC_000023.11:g.64190541G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp919His	rs1490080845	missense variant	-	NC_000023.11:g.64190532C>G	gnomAD
AMER1	Q5JTC6	p.Glu930Val	rs1196061753	missense variant	-	NC_000023.11:g.64190498T>A	TOPMed
AMER1	Q5JTC6	p.Glu931Ala	rs762862789	missense variant	-	NC_000023.11:g.64190495T>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Glu933Lys	rs945869656	missense variant	-	NC_000023.11:g.64190490C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu933Ter	rs945869656	stop gained	-	NC_000023.11:g.64190490C>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu934Val	rs765020689	missense variant	-	NC_000023.11:g.64190486T>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu936Lys	rs1418501335	missense variant	-	NC_000023.11:g.64190481C>T	TOPMed
AMER1	Q5JTC6	p.Ser941Thr	rs759099324	missense variant	-	NC_000023.11:g.64190465C>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg942Gln	rs368031008	missense variant	-	NC_000023.11:g.64190462C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg942Ter	rs1404477878	stop gained	-	NC_000023.11:g.64190463G>A	gnomAD
AMER1	Q5JTC6	p.Asp943Asn	rs770353761	missense variant	-	NC_000023.11:g.64190460C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp943Gly	rs201073415	missense variant	-	NC_000023.11:g.64190459T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu948Phe	rs1173578961	missense variant	-	NC_000023.11:g.64190445G>A	gnomAD
AMER1	Q5JTC6	p.Tyr949Cys	rs935906193	missense variant	-	NC_000023.11:g.64190441T>C	TOPMed
AMER1	Q5JTC6	p.Pro952Thr	rs768563880	missense variant	-	NC_000023.11:g.64190433G>T	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro952Ser	rs768563880	missense variant	-	NC_000023.11:g.64190433G>A	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro952Leu	rs780395189	missense variant	-	NC_000023.11:g.64190432G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro953Ser	rs374610712	missense variant	-	NC_000023.11:g.64190430G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp957Asn	rs370290063	missense variant	-	NC_000023.11:g.64190418C>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Trp958Cys	rs780015689	missense variant	-	NC_000023.11:g.64190413C>A	1000Genomes,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro959Leu	rs1293850001	missense variant	-	NC_000023.11:g.64190411G>A	TOPMed
AMER1	Q5JTC6	p.Pro959Thr	rs1435765495	missense variant	-	NC_000023.11:g.64190412G>T	gnomAD
AMER1	Q5JTC6	p.Ala960Val	rs1307322833	missense variant	-	NC_000023.11:g.64190408G>A	TOPMed
AMER1	Q5JTC6	p.Ala962Gly	rs1200895018	missense variant	-	NC_000023.11:g.64190402G>C	gnomAD
AMER1	Q5JTC6	p.Ala962Thr	rs777905301	missense variant	-	NC_000023.11:g.64190403C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro963Arg	rs1254194219	missense variant	-	NC_000023.11:g.64190399G>C	gnomAD
AMER1	Q5JTC6	p.Pro963Ser	rs758378585	missense variant	-	NC_000023.11:g.64190400G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Cys964Ser	rs1351220217	missense variant	-	NC_000023.11:g.64190396C>G	gnomAD
AMER1	Q5JTC6	p.Pro965Thr	rs376943508	missense variant	-	NC_000023.11:g.64190394G>T	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu966Pro	rs374729339	missense variant	-	NC_000023.11:g.64190390A>G	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro967Ser	rs968815543	missense variant	-	NC_000023.11:g.64190388G>A	gnomAD
AMER1	Q5JTC6	p.Pro967Thr	rs968815543	missense variant	-	NC_000023.11:g.64190388G>T	gnomAD
AMER1	Q5JTC6	p.Gly969Trp	rs753464604	missense variant	-	NC_000023.11:g.64190382C>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly971Ser	rs371014578	missense variant	-	NC_000023.11:g.64190376C>T	ESP,ExAC,gnomAD
AMER1	Q5JTC6	p.Ala973Thr	rs1176373162	missense variant	-	NC_000023.11:g.64190370C>T	gnomAD
AMER1	Q5JTC6	p.Trp974Arg	rs1257686015	missense variant	-	NC_000023.11:g.64190367A>G	TOPMed
AMER1	Q5JTC6	p.Pro977Ser	rs772682408	missense variant	-	NC_000023.11:g.64190358G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Asn978Ser	rs1412030993	missense variant	-	NC_000023.11:g.64190354T>C	gnomAD
AMER1	Q5JTC6	p.Gln979Arg	rs745847898	missense variant	-	NC_000023.11:g.64190351T>C	1000Genomes
AMER1	Q5JTC6	p.Asp981Gly	rs1484186857	missense variant	-	NC_000023.11:g.64190345T>C	TOPMed
AMER1	Q5JTC6	p.Pro983His	rs867885720	missense variant	-	NC_000023.11:g.64190339G>T	TOPMed
AMER1	Q5JTC6	p.Ser984Pro	rs775915295	missense variant	-	NC_000023.11:g.64190337A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser985Ile	rs1187930100	missense variant	-	NC_000023.11:g.64190333C>A	gnomAD
AMER1	Q5JTC6	p.Gln986Arg	rs770055483	missense variant	-	NC_000023.11:g.64190330T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro988Thr	rs1202984802	missense variant	-	NC_000023.11:g.64190325G>T	gnomAD
AMER1	Q5JTC6	p.Tyr989His	rs746199690	missense variant	-	NC_000023.11:g.64190322A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln991Ter	rs1350152636	stop gained	-	NC_000023.11:g.64190316G>A	gnomAD
AMER1	Q5JTC6	p.Pro997His	rs771161982	missense variant	-	NC_000023.11:g.64190297G>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro997Leu	rs771161982	missense variant	-	NC_000023.11:g.64190297G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Met999Val	rs747124947	missense variant	-	NC_000023.11:g.64190292T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Met1001Thr	rs777994848	missense variant	-	NC_000023.11:g.64190285A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Ile1003Val	rs866085199	missense variant	-	NC_000023.11:g.64190280T>C	gnomAD
AMER1	Q5JTC6	p.Ile1003Met	rs757257940	missense variant	-	NC_000023.11:g.64190278T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Ile1003Thr	rs758466072	missense variant	-	NC_000023.11:g.64190279A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser1004Pro	rs778870447	missense variant	-	NC_000023.11:g.64190277A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser1006Leu	rs1473629829	missense variant	-	NC_000023.11:g.64190270G>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Val1007Ala	rs1383132790	missense variant	-	NC_000023.11:g.64190267A>G	gnomAD
AMER1	Q5JTC6	p.Pro1008Ser	rs995009774	missense variant	-	NC_000023.11:g.64190265G>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu1009Ala	rs376717602	missense variant	-	NC_000023.11:g.64190261T>G	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu1009Gly	rs376717602	missense variant	-	NC_000023.11:g.64190261T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala1012Val	rs1249833969	missense variant	-	NC_000023.11:g.64190252G>A	gnomAD
AMER1	Q5JTC6	p.Pro1013Leu	rs765991551	missense variant	-	NC_000023.11:g.64190249G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gly1014Glu	rs959631746	missense variant	-	NC_000023.11:g.64190246C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gly1014Ala	rs959631746	missense variant	-	NC_000023.11:g.64190246C>G	TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu1015Val	rs756772667	missense variant	-	NC_000023.11:g.64190243T>A	1000Genomes,ExAC,gnomAD
AMER1	Q5JTC6	p.Ser1016Phe	rs1230215835	missense variant	-	NC_000023.11:g.64190240G>A	gnomAD
AMER1	Q5JTC6	p.Gly1017Trp	rs1357604176	missense variant	-	NC_000023.11:g.64190238C>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln1019Arg	rs749995763	missense variant	-	NC_000023.11:g.64190231T>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu1020Val	rs1367906109	missense variant	-	NC_000023.11:g.64190229G>C	gnomAD
AMER1	Q5JTC6	p.Arg1022His	rs761242587	missense variant	-	NC_000023.11:g.64190222C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser1024Leu	rs775889522	missense variant	-	NC_000023.11:g.64190216G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.His1025Asp	rs763827864	missense variant	-	NC_000023.11:g.64190214G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.His1027Tyr	rs867751090	missense variant	-	NC_000023.11:g.64190208G>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.His1027Gln	rs759866352	missense variant	-	NC_000023.11:g.64190206G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu1028Val	rs1449850982	missense variant	-	NC_000023.11:g.64190205G>C	gnomAD
AMER1	Q5JTC6	p.Gly1031Asp	rs201899164	missense variant	-	NC_000023.11:g.64190195C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro1032His	rs1313482472	missense variant	-	NC_000023.11:g.64190192G>T	TOPMed
AMER1	Q5JTC6	p.Asn1035Thr	rs773502508	missense variant	-	NC_000023.11:g.64190183T>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu1036Pro	rs772311167	missense variant	-	NC_000023.11:g.64190180A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln1037Ter	rs748190147	stop gained	-	NC_000023.11:g.64190178G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln1039Lys	rs202079009	missense variant	-	NC_000023.11:g.64190172G>T	1000Genomes
AMER1	Q5JTC6	p.Ser1041Phe	rs1344800438	missense variant	-	NC_000023.11:g.64190165G>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser1041Thr	rs1206236166	missense variant	-	NC_000023.11:g.64190166A>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser1041Pro	rs1206236166	missense variant	-	NC_000023.11:g.64190166A>G	TOPMed,gnomAD
AMER1	Q5JTC6	p.Gln1042Lys	rs1486040300	missense variant	-	NC_000023.11:g.64190163G>T	TOPMed
AMER1	Q5JTC6	p.Ser1043Asn	rs754917680	missense variant	-	NC_000023.11:g.64190159C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser1043Gly	RCV000119994	missense variant	-	NC_000023.11:g.64190160T>C	ClinVar
AMER1	Q5JTC6	p.Ser1043Gly	rs373315882	missense variant	-	NC_000023.11:g.64190160T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Met1044Leu	rs369116388	missense variant	-	NC_000023.11:g.64190157T>A	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Met1044Val	rs369116388	missense variant	-	NC_000023.11:g.64190157T>C	ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg1045Lys	rs755847386	missense variant	-	NC_000023.11:g.64190153C>T	ExAC,TOPMed
AMER1	Q5JTC6	p.Arg1045Thr	rs755847386	missense variant	-	NC_000023.11:g.64190153C>G	ExAC,TOPMed
AMER1	Q5JTC6	p.Pro1048His	rs1343180508	missense variant	-	NC_000023.11:g.64190144G>T	gnomAD
AMER1	Q5JTC6	p.Arg1049Gln	rs1258291174	missense variant	-	NC_000023.11:g.64190141C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg1049Gly	rs780779666	missense variant	-	NC_000023.11:g.64190142G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Arg1049Ter	rs780779666	stop gained	-	NC_000023.11:g.64190142G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp1050Gly	rs1180199506	missense variant	-	NC_000023.11:g.64190138T>C	TOPMed,gnomAD
AMER1	Q5JTC6	p.Asp1050Glu	rs756778843	missense variant	-	NC_000023.11:g.64190137A>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Val1051Leu	rs751054920	missense variant	-	NC_000023.11:g.64190136C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Val1055Asp	rs765703836	missense variant	-	NC_000023.11:g.64190123A>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro1058Leu	rs760083711	missense variant	-	NC_000023.11:g.64190114G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser1061Thr	rs754211727	missense variant	-	NC_000023.11:g.64190106A>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser1062Thr	rs766861490	missense variant	-	NC_000023.11:g.64190103A>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser1064Phe	rs761082647	missense variant	-	NC_000023.11:g.64190096G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Ser1070Cys	rs1369305295	missense variant	-	NC_000023.11:g.64190079T>A	TOPMed
AMER1	Q5JTC6	p.Pro1071Arg	rs773592043	missense variant	-	NC_000023.11:g.64190075G>C	ExAC
AMER1	Q5JTC6	p.Leu1072Pro	rs1275105010	missense variant	-	NC_000023.11:g.64190072A>G	TOPMed
AMER1	Q5JTC6	p.Pro1073Ser	rs1205869591	missense variant	-	NC_000023.11:g.64190070G>A	gnomAD
AMER1	Q5JTC6	p.Ala1075Thr	rs1204348341	missense variant	-	NC_000023.11:g.64190064C>T	TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala1075Val	rs1313285235	missense variant	-	NC_000023.11:g.64190063G>A	gnomAD
AMER1	Q5JTC6	p.Pro1077Ser	rs1224771478	missense variant	-	NC_000023.11:g.64190058G>A	gnomAD
AMER1	Q5JTC6	p.Val1078Leu	rs1343119078	missense variant	-	NC_000023.11:g.64190055C>A	gnomAD
AMER1	Q5JTC6	p.His1082Tyr	rs1410019226	missense variant	-	NC_000023.11:g.64190043G>A	gnomAD
AMER1	Q5JTC6	p.His1082Arg	rs1344004018	missense variant	-	NC_000023.11:g.64190042T>C	gnomAD
AMER1	Q5JTC6	p.Gly1083Val	rs1375155725	missense variant	-	NC_000023.11:g.64190039C>A	gnomAD
AMER1	Q5JTC6	p.Gln1086Ter	rs1296222452	stop gained	-	NC_000023.11:g.64190031G>A	gnomAD
AMER1	Q5JTC6	p.Pro1088Leu	rs1359607854	missense variant	-	NC_000023.11:g.64190024G>A	gnomAD
AMER1	Q5JTC6	p.Arg1089Ser	rs1468255983	missense variant	-	NC_000023.11:g.64190020C>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Val1090Ile	rs1428662045	missense variant	-	NC_000023.11:g.64190019C>T	gnomAD
AMER1	Q5JTC6	p.Arg1091Trp	RCV000119997	missense variant	-	NC_000023.11:g.64190016G>A	ClinVar
AMER1	Q5JTC6	p.Arg1091Gln	rs761842441	missense variant	-	NC_000023.11:g.64190015C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Arg1091Trp	rs375850061	missense variant	-	NC_000023.11:g.64190016G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Pro1092Ser	rs1176926572	missense variant	-	NC_000023.11:g.64190013G>A	TOPMed,gnomAD
AMER1	Q5JTC6	p.Glu1093Asp	rs1483800774	missense variant	-	NC_000023.11:g.64190008C>A	gnomAD
AMER1	Q5JTC6	p.Glu1093Lys	rs1314155750	missense variant	-	NC_000023.11:g.64190010C>T	gnomAD
AMER1	Q5JTC6	p.Pro1095Leu	rs1239674319	missense variant	-	NC_000023.11:g.64190003G>A	gnomAD
AMER1	Q5JTC6	p.Pro1097Thr	rs768536859	missense variant	-	NC_000023.11:g.64189998G>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Pro1097Ser	rs768536859	missense variant	-	NC_000023.11:g.64189998G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Gln1098Arg	rs1467890035	missense variant	-	NC_000023.11:g.64189994T>C	TOPMed
AMER1	Q5JTC6	p.Tyr1102His	rs749264086	missense variant	-	NC_000023.11:g.64189983A>G	ExAC,gnomAD
AMER1	Q5JTC6	p.Leu1107Val	rs779786896	missense variant	-	NC_000023.11:g.64189968G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Asp1108Asn	rs1038992426	missense variant	-	NC_000023.11:g.64189965C>T	TOPMed
AMER1	Q5JTC6	p.Glu1112Lys	rs780867419	missense variant	-	NC_000023.11:g.64189953C>T	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala1114Ser	rs777322830	missense variant	-	NC_000023.11:g.64189947C>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ala1114Thr	rs777322830	missense variant	-	NC_000023.11:g.64189947C>T	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu1120Val	rs754401246	missense variant	-	NC_000023.11:g.64189929G>C	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Leu1120Phe	rs754401246	missense variant	-	NC_000023.11:g.64189929G>A	ExAC,TOPMed,gnomAD
AMER1	Q5JTC6	p.Ser1126Cys	rs766945332	missense variant	-	NC_000023.11:g.64189910G>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Ala1128Val	rs761170439	missense variant	-	NC_000023.11:g.64189904G>A	ExAC,gnomAD
AMER1	Q5JTC6	p.Asn1132Ser	rs560887174	missense variant	-	NC_000023.11:g.64189892T>C	ExAC,gnomAD
AMER1	Q5JTC6	p.Ter1136Leu	rs767920878	stop lost	-	NC_000023.11:g.64189880T>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Gly3Arg	rs1407969897	missense variant	-	NC_000010.11:g.117138050C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly3Arg	rs1407969897	missense variant	-	NC_000010.11:g.117138050C>G	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro5Leu	rs760200304	missense variant	-	NC_000010.11:g.117138043G>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Asp6Gly	rs369019203	missense variant	-	NC_000010.11:g.117138040T>C	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Lys7Asn	rs1028634962	missense variant	-	NC_000010.11:g.117138036T>A	TOPMed
VAX1	Q5SQQ9	p.Asp9Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117138031T>A	NCI-TCGA
VAX1	Q5SQQ9	p.Asp9Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117138032C>T	NCI-TCGA
VAX1	Q5SQQ9	p.Val10Gly	rs771996022	missense variant	-	NC_000010.11:g.117138028A>C	ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg11Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.117138026G>A	NCI-TCGA
VAX1	Q5SQQ9	p.Arg11Gln	rs748062678	missense variant	-	NC_000010.11:g.117138025C>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.His13Leu	rs1243275101	missense variant	-	NC_000010.11:g.117138019T>A	gnomAD
VAX1	Q5SQQ9	p.His13Gln	rs200217488	missense variant	-	NC_000010.11:g.117138018G>C	1000Genomes
VAX1	Q5SQQ9	p.Ser14Trp	rs372435563	missense variant	-	NC_000010.11:g.117138016G>C	ESP,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser14Leu	rs372435563	missense variant	-	NC_000010.11:g.117138016G>A	ESP,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala16Val	rs768449638	missense variant	-	NC_000010.11:g.117138010G>A	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala16Thr	rs1350198417	missense variant	-	NC_000010.11:g.117138011C>T	TOPMed
VAX1	Q5SQQ9	p.Glu17Gly	rs781390259	missense variant	-	NC_000010.11:g.117138007T>C	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Glu17Lys	rs1488626545	missense variant	-	NC_000010.11:g.117138008C>T	TOPMed
VAX1	Q5SQQ9	p.Ala18Ser	COSM1470301	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117138005C>A	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Ala19Gly	COSM6064999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117138001G>C	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Arg20Gln	rs1363003041	missense variant	-	NC_000010.11:g.117137998C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser22Trp	rs757464020	missense variant	-	NC_000010.11:g.117137992G>C	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser22Leu	rs757464020	missense variant	-	NC_000010.11:g.117137992G>A	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Lys23Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117137988C>A	NCI-TCGA
VAX1	Q5SQQ9	p.Ala25Pro	rs1428776398	missense variant	-	NC_000010.11:g.117137984C>G	gnomAD
VAX1	Q5SQQ9	p.Ala25Val	rs903654164	missense variant	-	NC_000010.11:g.117137983G>A	TOPMed
VAX1	Q5SQQ9	p.Lys27Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117137976C>G	NCI-TCGA
VAX1	Q5SQQ9	p.Lys27Thr	rs376554237	missense variant	-	NC_000010.11:g.117137977T>G	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Lys27Glu	rs751640198	missense variant	-	NC_000010.11:g.117137978T>C	ExAC,gnomAD
VAX1	Q5SQQ9	p.Lys27Arg	rs376554237	missense variant	-	NC_000010.11:g.117137977T>C	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Glu28Gly	rs753261643	missense variant	-	NC_000010.11:g.117137974T>C	ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg30Gln	rs759967956	missense variant	-	NC_000010.11:g.117137968C>T	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Arg30Leu	rs759967956	missense variant	-	NC_000010.11:g.117137968C>A	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Arg30Pro	rs759967956	missense variant	-	NC_000010.11:g.117137968C>G	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Glu31Lys	rs766031425	missense variant	-	NC_000010.11:g.117137966C>T	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Glu31Gln	rs766031425	missense variant	-	NC_000010.11:g.117137966C>G	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly34Asp	rs760266868	missense variant	-	NC_000010.11:g.117137956C>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Gly34Ala	rs760266868	missense variant	-	NC_000010.11:g.117137956C>G	ExAC,gnomAD
VAX1	Q5SQQ9	p.Ala35Thr	rs772737522	missense variant	-	NC_000010.11:g.117137954C>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Ala35Glu	COSM333504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117137953G>T	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Gly37Arg	rs369123910	missense variant	-	NC_000010.11:g.117137948C>T	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro40Arg	rs141168124	missense variant	-	NC_000010.11:g.117137938G>C	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro40Leu	rs141168124	missense variant	-	NC_000010.11:g.117137938G>A	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala41Gly	rs768646019	missense variant	-	NC_000010.11:g.117137935G>C	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala42Thr	rs938651186	missense variant	-	NC_000010.11:g.117137933C>T	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Ala42Thr	rs938651186	missense variant	-	NC_000010.11:g.117137933C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala42Ser	rs938651186	missense variant	-	NC_000010.11:g.117137933C>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Phe43Leu	rs771135577	missense variant	-	NC_000010.11:g.117137928G>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Phe43Leu	rs1250262155	missense variant	-	NC_000010.11:g.117137930A>G	TOPMed
VAX1	Q5SQQ9	p.Leu44Phe	rs1436374233	missense variant	-	NC_000010.11:g.117137927G>A	TOPMed
VAX1	Q5SQQ9	p.Lys45Met	rs1179249319	missense variant	-	NC_000010.11:g.117137923T>A	TOPMed
VAX1	Q5SQQ9	p.Glu46Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.117137921C>A	NCI-TCGA
VAX1	Q5SQQ9	p.Glu46Lys	rs367560423	missense variant	-	NC_000010.11:g.117137921C>T	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Glu46Lys	rs367560423	missense variant	-	NC_000010.11:g.117137921C>T	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Glu46Gln	rs367560423	missense variant	-	NC_000010.11:g.117137921C>G	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro47Arg	rs1302620952	missense variant	-	NC_000010.11:g.117137917G>C	gnomAD
VAX1	Q5SQQ9	p.Pro47Gln	rs1302620952	missense variant	-	NC_000010.11:g.117137917G>T	gnomAD
VAX1	Q5SQQ9	p.Gln48His	rs1462853173	missense variant	-	NC_000010.11:g.117137913C>G	gnomAD
VAX1	Q5SQQ9	p.Gly49Asp	rs1172446588	missense variant	-	NC_000010.11:g.117137911C>T	TOPMed
VAX1	Q5SQQ9	p.Ala53Pro	rs948925832	missense variant	-	NC_000010.11:g.117137900C>G	TOPMed
VAX1	Q5SQQ9	p.Ala53Val	rs1427570227	missense variant	-	NC_000010.11:g.117137899G>A	gnomAD
VAX1	Q5SQQ9	p.Ala53Thr	rs948925832	missense variant	-	NC_000010.11:g.117137900C>T	TOPMed
VAX1	Q5SQQ9	p.Ser54Leu	rs752885506	missense variant	-	NC_000010.11:g.117137896G>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Gly55Asp	rs755587809	missense variant	-	NC_000010.11:g.117137893C>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Ala56Ser	rs754203695	missense variant	-	NC_000010.11:g.117137891C>A	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala56Pro	rs754203695	missense variant	-	NC_000010.11:g.117137891C>G	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala57Thr	rs1196124925	missense variant	-	NC_000010.11:g.117137888C>T	gnomAD
VAX1	Q5SQQ9	p.Asp59Gly	rs1202619825	missense variant	-	NC_000010.11:g.117137881T>C	NCI-TCGA
VAX1	Q5SQQ9	p.Asp59Asn	rs1249422578	missense variant	-	NC_000010.11:g.117137882C>T	NCI-TCGA
VAX1	Q5SQQ9	p.Asp59Asn	rs1249422578	missense variant	-	NC_000010.11:g.117137882C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Asp59Ala	rs1202619825	missense variant	-	NC_000010.11:g.117137881T>G	gnomAD
VAX1	Q5SQQ9	p.Asp59Gly	rs1202619825	missense variant	-	NC_000010.11:g.117137881T>C	gnomAD
VAX1	Q5SQQ9	p.Cys60Ser	rs760308688	missense variant	-	NC_000010.11:g.117137878C>G	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Cys60Phe	rs760308688	missense variant	-	NC_000010.11:g.117137878C>A	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Asn61Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117137874G>C	NCI-TCGA
VAX1	Q5SQQ9	p.Ser63Asn	rs973817780	missense variant	-	NC_000010.11:g.117137869C>T	TOPMed
VAX1	Q5SQQ9	p.Asn66Ser	rs1004005013	missense variant	-	NC_000010.11:g.117137860T>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser67Tyr	rs750057346	missense variant	-	NC_000010.11:g.117137857G>T	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser67Phe	rs750057346	missense variant	-	NC_000010.11:g.117137857G>A	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala68Thr	rs1239668375	missense variant	-	NC_000010.11:g.117137855C>T	TOPMed
VAX1	Q5SQQ9	p.Ala68Val	rs767256510	missense variant	-	NC_000010.11:g.117137854G>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Ala68Glu	rs767256510	missense variant	-	NC_000010.11:g.117137854G>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Ala69Gly	rs1027165059	missense variant	-	NC_000010.11:g.117137851G>C	gnomAD
VAX1	Q5SQQ9	p.Ala69Glu	rs1027165059	missense variant	-	NC_000010.11:g.117137851G>T	gnomAD
VAX1	Q5SQQ9	p.Asp70Glu	rs773894040	missense variant	-	NC_000010.11:g.117137847G>C	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Asp70Glu	rs773894040	missense variant	-	NC_000010.11:g.117137847G>T	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro71Leu	rs1428704285	missense variant	-	NC_000010.11:g.117137845G>A	gnomAD
VAX1	Q5SQQ9	p.Asp72Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117137843C>A	NCI-TCGA
VAX1	Q5SQQ9	p.Asp72Glu	rs1422260776	missense variant	-	NC_000010.11:g.117137841A>T	gnomAD
VAX1	Q5SQQ9	p.Asp72Asn	rs143954756	missense variant	-	NC_000010.11:g.117137843C>T	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Asp72Ala	rs1164914533	missense variant	-	NC_000010.11:g.117137842T>G	gnomAD
VAX1	Q5SQQ9	p.Arg75Cys	rs1372402560	missense variant	-	NC_000010.11:g.117137834G>A	TOPMed
VAX1	Q5SQQ9	p.Arg76Gln	rs1420816659	missense variant	-	NC_000010.11:g.117137830C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Arg76Gly	rs762901857	missense variant	-	NC_000010.11:g.117137831G>C	ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg76Leu	rs1420816659	missense variant	-	NC_000010.11:g.117137830C>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Leu78Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117137825G>T	NCI-TCGA
VAX1	Q5SQQ9	p.Val79Ala	rs536410336	missense variant	-	NC_000010.11:g.117137821A>G	1000Genomes,ExAC,gnomAD
VAX1	Q5SQQ9	p.Val79Gly	rs536410336	missense variant	-	NC_000010.11:g.117137821A>C	1000Genomes,ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg80Gln	rs1176473736	missense variant	-	NC_000010.11:g.117137818C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Arg80Leu	rs1176473736	missense variant	-	NC_000010.11:g.117137818C>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Asp81Asn	rs1482844157	missense variant	-	NC_000010.11:g.117137816C>T	gnomAD
VAX1	Q5SQQ9	p.Gly84Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117136650C>A	NCI-TCGA
VAX1	Q5SQQ9	p.Gly84Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117136651C>T	NCI-TCGA
VAX1	Q5SQQ9	p.Gly84Trp	COSM4011980	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136651C>A	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Ser85ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.117136648_117136649insC	NCI-TCGA
VAX1	Q5SQQ9	p.Ser85Phe	rs765279998	missense variant	-	NC_000010.11:g.117136647G>A	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ile86Thr	rs1259528166	missense variant	-	NC_000010.11:g.117136644A>G	gnomAD
VAX1	Q5SQQ9	p.Arg87Gln	rs776532808	missense variant	-	NC_000010.11:g.117136641C>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg87Ter	rs759249350	stop gained	-	NC_000010.11:g.117136642G>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Ile89Leu	rs1285594976	missense variant	-	NC_000010.11:g.117136636T>G	gnomAD
VAX1	Q5SQQ9	p.Lys93Asn	rs1330216367	missense variant	-	NC_000010.11:g.117136622C>G	gnomAD
VAX1	Q5SQQ9	p.Gly94Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117136621C>T	NCI-TCGA
VAX1	Q5SQQ9	p.Leu95Met	COSM4011978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136618G>T	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Arg99Leu	COSM1139334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136605C>A	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Arg99Gln	COSM1584778	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136605C>T	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Arg99Trp	COSM6065001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136606G>A	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Lys101Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117136599T>G	NCI-TCGA
VAX1	Q5SQQ9	p.Lys101Arg	rs1431071024	missense variant	-	NC_000010.11:g.117136599T>C	gnomAD
VAX1	Q5SQQ9	p.Thr103Met	rs371683596	missense variant	-	NC_000010.11:g.117136593G>A	NCI-TCGA,NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Thr103Met	rs371683596	missense variant	-	NC_000010.11:g.117136593G>A	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Thr103Lys	rs371683596	missense variant	-	NC_000010.11:g.117136593G>T	ESP,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Arg104Pro	rs749442766	missense variant	-	NC_000010.11:g.117136590C>G	ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg104His	COSM2054986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136590C>T	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Thr105Met	rs1233582980	missense variant	-	NC_000010.11:g.117136587G>A	gnomAD
VAX1	Q5SQQ9	p.Thr105Ter	RCV000551421	frameshift	Microphthalmia, syndromic 11 (MCOPS11)	NC_000010.11:g.117136589dup	ClinVar
VAX1	Q5SQQ9	p.Ala109Val	rs1377337113	missense variant	-	NC_000010.11:g.117136575G>A	gnomAD
VAX1	Q5SQQ9	p.Glu110Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.117136573C>A	NCI-TCGA
VAX1	Q5SQQ9	p.Gln111His	COSM4917957	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136568C>G	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Leu112Phe	rs746198450	missense variant	-	NC_000010.11:g.117136567G>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Glu116Gly	rs202102160	missense variant	-	NC_000010.11:g.117136554T>C	ExAC,gnomAD
VAX1	Q5SQQ9	p.Met117Arg	rs763540517	missense variant	-	NC_000010.11:g.117136551A>C	ExAC,gnomAD
VAX1	Q5SQQ9	p.Met117Leu	rs751218017	missense variant	-	NC_000010.11:g.117136552T>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Met117Ile	rs1202233356	missense variant	-	NC_000010.11:g.117136550C>T	gnomAD
VAX1	Q5SQQ9	p.Met117Thr	rs763540517	missense variant	-	NC_000010.11:g.117136551A>G	ExAC,gnomAD
VAX1	Q5SQQ9	p.Glu118Val	rs1343825025	missense variant	-	NC_000010.11:g.117136548T>A	gnomAD
VAX1	Q5SQQ9	p.Arg121His	rs752322155	missense variant	-	NC_000010.11:g.117136539C>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg121Cys	rs547581837	missense variant	-	NC_000010.11:g.117136540G>A	1000Genomes,ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg121Pro	rs752322155	missense variant	-	NC_000010.11:g.117136539C>G	ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg121Cys	rs547581837	missense variant	-	NC_000010.11:g.117136540G>A	NCI-TCGA,NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Cys122Arg	rs1296235144	missense variant	-	NC_000010.11:g.117136537A>G	gnomAD
VAX1	Q5SQQ9	p.Cys122Phe	rs1421106668	missense variant	-	NC_000010.11:g.117136536C>A	TOPMed
VAX1	Q5SQQ9	p.Tyr124Ter	rs765056555	stop gained	-	NC_000010.11:g.117136529G>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Val125Met	COSM3414726	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136528C>T	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Val126Ala	rs766278617	missense variant	-	NC_000010.11:g.117136524A>G	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Arg128Leu	COSM6128386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136518C>A	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Arg128His	COSM3686521	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136518C>T	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Thr131Ser	rs1325502393	missense variant	-	NC_000010.11:g.117136509G>C	TOPMed
VAX1	Q5SQQ9	p.Glu132Gln	rs762065524	missense variant	-	NC_000010.11:g.117136507C>G	ExAC,gnomAD
VAX1	Q5SQQ9	p.Glu132Lys	rs762065524	missense variant	-	NC_000010.11:g.117136507C>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Leu133Ile	rs1282134900	missense variant	-	NC_000010.11:g.117136504G>T	gnomAD
VAX1	Q5SQQ9	p.Ala134Thr	COSM4740214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117136501C>T	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Arg135Trp	rs143950742	missense variant	-	NC_000010.11:g.117136498G>A	ESP,TOPMed
VAX1	Q5SQQ9	p.Arg135Trp	rs143950742	missense variant	-	NC_000010.11:g.117136498G>A	NCI-TCGA,NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Arg135Gln	rs906191563	missense variant	-	NC_000010.11:g.117136497C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Leu137Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117136492G>T	NCI-TCGA
VAX1	Q5SQQ9	p.Ser140Pro	rs762909313	missense variant	-	NC_000010.11:g.117136483A>G	ExAC,gnomAD
VAX1	Q5SQQ9	p.Glu141Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117136480C>T	NCI-TCGA
VAX1	Q5SQQ9	p.Glu141Asp	rs1185828769	missense variant	-	NC_000010.11:g.117136478C>G	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Thr142Ile	rs770153633	missense variant	-	NC_000010.11:g.117136476G>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Arg152Ser	rs387907252	missense variant	Microphthalmia, syndromic 11 (mcops11)	NC_000010.11:g.117134559G>T	-
VAX1	Q5SQQ9	p.Arg152Ser	rs387907252	missense variant	Microphthalmia, syndromic, 11 (MCOPS11)	NC_000010.11:g.117134559G>T	UniProt,dbSNP
VAX1	Q5SQQ9	p.Arg152Ser	VAR_067307	missense variant	Microphthalmia, syndromic, 11 (MCOPS11)	NC_000010.11:g.117134559G>T	UniProt
VAX1	Q5SQQ9	p.Arg152Ser	RCV000030635	missense variant	Microphthalmia, syndromic 11 (MCOPS11)	NC_000010.11:g.117134559G>T	ClinVar
VAX1	Q5SQQ9	p.Lys157Arg	rs759903028	missense variant	-	NC_000010.11:g.117134543T>C	ExAC,gnomAD
VAX1	Q5SQQ9	p.Gly160Asp	rs777113215	missense variant	-	NC_000010.11:g.117134534C>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Asp162Asn	rs1314934842	missense variant	-	NC_000010.11:g.117134529C>T	TOPMed
VAX1	Q5SQQ9	p.Ser163Leu	rs771498158	missense variant	-	NC_000010.11:g.117134525G>A	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Glu164Lys	rs1220259234	missense variant	-	NC_000010.11:g.117134523C>T	gnomAD
VAX1	Q5SQQ9	p.Glu171Gln	rs1214575426	missense variant	-	NC_000010.11:g.117134502C>G	TOPMed
VAX1	Q5SQQ9	p.Leu179Pro	rs1465836213	missense variant	-	NC_000010.11:g.117134477A>G	TOPMed
VAX1	Q5SQQ9	p.Arg180Trp	rs1370078092	missense variant	-	NC_000010.11:g.117134475G>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Leu181Met	rs377184623	missense variant	-	NC_000010.11:g.117134472G>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Glu183Ala	rs373002811	missense variant	-	NC_000010.11:g.117134465T>G	TOPMed
VAX1	Q5SQQ9	p.Gly185Asp	rs200538721	missense variant	-	NC_000010.11:g.117134459C>T	TOPMed
VAX1	Q5SQQ9	p.Arg186Cys	rs778224173	missense variant	-	NC_000010.11:g.117134457G>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Leu188Phe	rs754493198	missense variant	-	NC_000010.11:g.117134449C>A	ExAC,gnomAD
VAX1	Q5SQQ9	p.Ser189Leu	rs1177682517	missense variant	-	NC_000010.11:g.117134447G>A	gnomAD
VAX1	Q5SQQ9	p.Pro190Ser	rs1481203437	missense variant	-	NC_000010.11:g.117134445G>A	gnomAD
VAX1	Q5SQQ9	p.Gly192Ser	rs1190088030	missense variant	-	NC_000010.11:g.117134439C>T	gnomAD
VAX1	Q5SQQ9	p.Ala195Glu	rs1482796493	missense variant	-	NC_000010.11:g.117134429G>T	gnomAD
VAX1	Q5SQQ9	p.Pro199Leu	rs993656136	missense variant	-	NC_000010.11:g.117134417G>A	TOPMed
VAX1	Q5SQQ9	p.Ala201Thr	rs200933454	missense variant	-	NC_000010.11:g.117134412C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Thr202Arg	rs1263514983	missense variant	-	NC_000010.11:g.117134408G>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Thr202Met	rs1263514983	missense variant	-	NC_000010.11:g.117134408G>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly203Asp	rs1314135592	missense variant	-	NC_000010.11:g.117134405C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly203Arg	rs1205383057	missense variant	-	NC_000010.11:g.117134406C>G	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly203Ser	rs1205383057	missense variant	-	NC_000010.11:g.117134406C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly203Ala	rs1314135592	missense variant	-	NC_000010.11:g.117134405C>G	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Leu205Val	rs1040112444	missense variant	-	NC_000010.11:g.117134400G>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Leu205Pro	rs1362686438	missense variant	-	NC_000010.11:g.117134399A>G	gnomAD
VAX1	Q5SQQ9	p.Gly206Asp	rs1299927974	missense variant	-	NC_000010.11:g.117134396C>T	gnomAD
VAX1	Q5SQQ9	p.Gly206Arg	rs1281672094	missense variant	-	NC_000010.11:g.117134397C>G	TOPMed
VAX1	Q5SQQ9	p.Ser207Pro	rs1433517337	missense variant	-	NC_000010.11:g.117134394A>G	gnomAD
VAX1	Q5SQQ9	p.Ala208Ser	rs1337775304	missense variant	-	NC_000010.11:g.117134391C>A	gnomAD
VAX1	Q5SQQ9	p.Leu209Gln	rs1241921077	missense variant	-	NC_000010.11:g.117134387A>T	TOPMed
VAX1	Q5SQQ9	p.Gly211Arg	rs1237879004	missense variant	-	NC_000010.11:g.117134382C>G	TOPMed
VAX1	Q5SQQ9	p.Pro212Ser	rs780107711	missense variant	-	NC_000010.11:g.117134379G>A	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro212Thr	rs780107711	missense variant	-	NC_000010.11:g.117134379G>T	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser213Thr	rs1157104990	missense variant	-	NC_000010.11:g.117134375C>G	TOPMed
VAX1	Q5SQQ9	p.Pro215Gln	rs1420943430	missense variant	-	NC_000010.11:g.117134369G>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser225Leu	rs977663663	missense variant	-	NC_000010.11:g.117134339G>A	TOPMed
VAX1	Q5SQQ9	p.Ala227Val	rs1390036718	missense variant	-	NC_000010.11:g.117134333G>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala228Ser	rs1261998507	missense variant	-	NC_000010.11:g.117134331C>A	TOPMed
VAX1	Q5SQQ9	p.Ala228Thr	rs1261998507	missense variant	-	NC_000010.11:g.117134331C>T	TOPMed
VAX1	Q5SQQ9	p.Ala230Thr	rs571879048	missense variant	-	NC_000010.11:g.117134325C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala231Thr	rs1253636317	missense variant	-	NC_000010.11:g.117134322C>T	TOPMed
VAX1	Q5SQQ9	p.Ala231Ser	rs1253636317	missense variant	-	NC_000010.11:g.117134322C>A	TOPMed
VAX1	Q5SQQ9	p.Ala232Val	rs1467628874	missense variant	-	NC_000010.11:g.117134318G>A	TOPMed
VAX1	Q5SQQ9	p.Ala232Ser	rs1427337241	missense variant	-	NC_000010.11:g.117134319C>A	TOPMed
VAX1	Q5SQQ9	p.Ala232Ser	RCV000732163	missense variant	-	NC_000010.11:g.117134319C>A	ClinVar
VAX1	Q5SQQ9	p.Ala233Ser	rs1173735611	missense variant	-	NC_000010.11:g.117134316C>A	TOPMed
VAX1	Q5SQQ9	p.Pro234Arg	rs1165722579	missense variant	-	NC_000010.11:g.117134312G>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro234Leu	rs1165722579	missense variant	-	NC_000010.11:g.117134312G>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala239Ser	RCV000177118	missense variant	-	NC_000010.11:g.117134298C>A	ClinVar
VAX1	Q5SQQ9	p.Ala239Ser	rs794727490	missense variant	-	NC_000010.11:g.117134298C>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala239Thr	rs794727490	missense variant	-	NC_000010.11:g.117134298C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro242Arg	rs994080192	missense variant	-	NC_000010.11:g.117134288G>C	TOPMed
VAX1	Q5SQQ9	p.Pro245Leu	rs1483245112	missense variant	-	NC_000010.11:g.117134279G>A	TOPMed
VAX1	Q5SQQ9	p.Ala246Val	rs1267022885	missense variant	-	NC_000010.11:g.117134276G>A	TOPMed
VAX1	Q5SQQ9	p.Ala250Gly	rs1199681849	missense variant	-	NC_000010.11:g.117134264G>C	TOPMed
VAX1	Q5SQQ9	p.Pro251Leu	rs1482127577	missense variant	-	NC_000010.11:g.117134261G>A	gnomAD
VAX1	Q5SQQ9	p.Gly252Arg	rs897985454	missense variant	-	NC_000010.11:g.117134259C>G	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly252Cys	rs897985454	missense variant	-	NC_000010.11:g.117134259C>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro253Ala	rs1206822958	missense variant	-	NC_000010.11:g.117134256G>C	gnomAD
VAX1	Q5SQQ9	p.Gly254Glu	rs1469409574	missense variant	-	NC_000010.11:g.117134252C>T	gnomAD
VAX1	Q5SQQ9	p.Gly254Arg	rs1209604989	missense variant	-	NC_000010.11:g.117134253C>T	gnomAD
VAX1	Q5SQQ9	p.Pro255Leu	rs1371607210	missense variant	-	NC_000010.11:g.117134249G>A	TOPMed
VAX1	Q5SQQ9	p.Ala256Thr	rs1308374977	missense variant	-	NC_000010.11:g.117134247C>T	gnomAD
VAX1	Q5SQQ9	p.Ala256Asp	rs1276844540	missense variant	-	NC_000010.11:g.117134246G>T	gnomAD
VAX1	Q5SQQ9	p.Gly260Glu	rs1008630883	missense variant	-	NC_000010.11:g.117134234C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly260Val	rs1008630883	missense variant	-	NC_000010.11:g.117134234C>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly260Arg	rs1226333548	missense variant	-	NC_000010.11:g.117134235C>T	gnomAD
VAX1	Q5SQQ9	p.Leu261Ser	rs1050099504	missense variant	-	NC_000010.11:g.117134231A>G	TOPMed
VAX1	Q5SQQ9	p.His262Asp	rs1365060185	missense variant	-	NC_000010.11:g.117134229G>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.His262Tyr	rs1365060185	missense variant	-	NC_000010.11:g.117134229G>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala263Val	rs1243574513	missense variant	-	NC_000010.11:g.117134225G>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala263Thr	rs1316294546	missense variant	-	NC_000010.11:g.117134226C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Gly264Ser	rs1377353359	missense variant	-	NC_000010.11:g.117134223C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala265Thr	rs758484978	missense variant	-	NC_000010.11:g.117134220C>T	ExAC,gnomAD
VAX1	Q5SQQ9	p.Pro266Ser	rs1372077016	missense variant	-	NC_000010.11:g.117134217G>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro266Ala	rs1372077016	missense variant	-	NC_000010.11:g.117134217G>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro266Arg	rs935643016	missense variant	-	NC_000010.11:g.117134216G>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala268Val	rs1445331705	missense variant	-	NC_000010.11:g.117134210G>A	TOPMed
VAX1	Q5SQQ9	p.Gly269Ser	rs1385340882	missense variant	-	NC_000010.11:g.117134208C>T	gnomAD
VAX1	Q5SQQ9	p.Ser274Thr	rs1255216202	missense variant	-	NC_000010.11:g.117134192C>G	gnomAD
VAX1	Q5SQQ9	p.Ser274Arg	rs1177625367	missense variant	-	NC_000010.11:g.117134191G>T	gnomAD
VAX1	Q5SQQ9	p.Pro276Ser	rs1320456609	missense variant	-	NC_000010.11:g.117134187G>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Val277Met	rs1254291057	missense variant	-	NC_000010.11:g.117134184C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro278Leu	rs1203315887	missense variant	-	NC_000010.11:g.117134180G>A	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Pro278His	rs1203315887	missense variant	-	NC_000010.11:g.117134180G>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser279Leu	rs1292605878	missense variant	-	NC_000010.11:g.117134177G>A	gnomAD
VAX1	Q5SQQ9	p.Gly282Arg	rs752978368	missense variant	-	NC_000010.11:g.117134169C>G	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser283Tyr	rs1352750213	missense variant	-	NC_000010.11:g.117134165G>T	gnomAD
VAX1	Q5SQQ9	p.Ser283Cys	rs1352750213	missense variant	-	NC_000010.11:g.117134165G>C	gnomAD
VAX1	Q5SQQ9	p.Ser283Pro	rs765435813	missense variant	-	NC_000010.11:g.117134166A>G	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala285Gly	rs1312685600	missense variant	-	NC_000010.11:g.117134159G>C	TOPMed
VAX1	Q5SQQ9	p.Ser286Gly	rs1305745454	missense variant	-	NC_000010.11:g.117134157T>C	gnomAD
VAX1	Q5SQQ9	p.Arg287Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117134154G>T	NCI-TCGA
VAX1	Q5SQQ9	p.Arg287Leu	rs1408856424	missense variant	-	NC_000010.11:g.117134153C>A	gnomAD
VAX1	Q5SQQ9	p.Ala291Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117134142C>T	NCI-TCGA
VAX1	Q5SQQ9	p.Pro292Ser	rs1456321270	missense variant	-	NC_000010.11:g.117134139G>A	gnomAD
VAX1	Q5SQQ9	p.Pro292Arg	rs917061935	missense variant	-	NC_000010.11:g.117134138G>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Thr294Ala	rs1159520457	missense variant	-	NC_000010.11:g.117134133T>C	gnomAD
VAX1	Q5SQQ9	p.Met295Val	RCV000177117	missense variant	-	NC_000010.11:g.117134130T>C	ClinVar
VAX1	Q5SQQ9	p.Met295Thr	rs1348710977	missense variant	-	NC_000010.11:g.117134129A>G	TOPMed
VAX1	Q5SQQ9	p.Met295Val	rs794727489	missense variant	-	NC_000010.11:g.117134130T>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala296Thr	rs1210672677	missense variant	-	NC_000010.11:g.117134127C>T	TOPMed
VAX1	Q5SQQ9	p.Gly297Ala	rs939451478	missense variant	-	NC_000010.11:g.117134123C>G	TOPMed
VAX1	Q5SQQ9	p.Ala300Val	rs1180211093	missense variant	-	NC_000010.11:g.117134114G>A	gnomAD
VAX1	Q5SQQ9	p.Gly301Glu	rs1482853490	missense variant	-	NC_000010.11:g.117134111C>T	gnomAD
VAX1	Q5SQQ9	p.Gly301Arg	rs1172184635	missense variant	-	NC_000010.11:g.117134112C>T	gnomAD
VAX1	Q5SQQ9	p.Glu305Ter	COSM1584780	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.117134100C>A	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Leu306Phe	rs1424742433	missense variant	-	NC_000010.11:g.117134097G>A	TOPMed
VAX1	Q5SQQ9	p.Ser307Ala	rs1006865637	missense variant	-	NC_000010.11:g.117134094A>C	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ala308Pro	rs1487773914	missense variant	-	NC_000010.11:g.117134091C>G	gnomAD
VAX1	Q5SQQ9	p.Arg309Gln	rs1028355406	missense variant	-	NC_000010.11:g.117134087C>T	TOPMed,gnomAD
VAX1	Q5SQQ9	p.Ser314Leu	rs1451874313	missense variant	-	NC_000010.11:g.117134072G>A	TOPMed
VAX1	Q5SQQ9	p.Tyr319Ter	rs1286856217	stop gained	-	NC_000010.11:g.117134056G>C	gnomAD
VAX1	Q5SQQ9	p.Thr322Ser	rs1345819807	missense variant	-	NC_000010.11:g.117134048G>C	gnomAD
VAX1	Q5SQQ9	p.Glu326Asp	rs773495703	missense variant	-	NC_000010.11:g.117134035T>G	ExAC,TOPMed,gnomAD
VAX1	Q5SQQ9	p.Glu329Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.117134028C>T	NCI-TCGA
VAX1	Q5SQQ9	p.Lys330Glu	rs1268886309	missense variant	-	NC_000010.11:g.117134025T>C	TOPMed
VAX1	Q5SQQ9	p.Ala332Ter	RCV000535598	frameshift	Microphthalmia, syndromic 11 (MCOPS11)	NC_000010.11:g.117134025dup	ClinVar
VAX1	Q5SQQ9	p.Ala332Val	COSM915229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.117134018G>A	NCI-TCGA Cosmic
VAX1	Q5SQQ9	p.Leu333Met	rs1384605148	missense variant	-	NC_000010.11:g.117134016G>T	gnomAD
VAX1	Q5SQQ9	p.Ter335Trp	rs1389423932	stop lost	-	NC_000010.11:g.117134008T>C	gnomAD
WLS	Q5T9L3	p.Ala2Val	rs148747626	missense variant	-	NC_000001.11:g.68232295G>A	ESP
WLS	Q5T9L3	p.Ile5Val	rs1160503998	missense variant	-	NC_000001.11:g.68232287T>C	TOPMed
WLS	Q5T9L3	p.Ile6Met	rs991607842	missense variant	-	NC_000001.11:g.68232282T>C	TOPMed
WLS	Q5T9L3	p.Ile6Thr	rs1385830152	missense variant	-	NC_000001.11:g.68232283A>G	TOPMed
WLS	Q5T9L3	p.Met9Val	rs746323384	missense variant	-	NC_000001.11:g.68232275T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Met9Leu	rs746323384	missense variant	-	NC_000001.11:g.68232275T>G	ExAC,gnomAD
WLS	Q5T9L3	p.Thr11Ser	rs1312050404	missense variant	-	NC_000001.11:g.68232268G>C	gnomAD
WLS	Q5T9L3	p.Cys15Gly	rs1412473355	missense variant	-	NC_000001.11:g.68232257A>C	gnomAD
WLS	Q5T9L3	p.Ile16Thr	COSM911883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68232253A>G	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Ile16Asn	rs781704177	missense variant	-	NC_000001.11:g.68232253A>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile16Ser	rs781704177	missense variant	-	NC_000001.11:g.68232253A>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile16Leu	rs1376915170	missense variant	-	NC_000001.11:g.68232254T>G	gnomAD
WLS	Q5T9L3	p.Gly18Asp	rs1405226335	missense variant	-	NC_000001.11:g.68232247C>T	gnomAD
WLS	Q5T9L3	p.Gly19Val	rs1157324101	missense variant	-	NC_000001.11:g.68232244C>A	gnomAD
WLS	Q5T9L3	p.Leu22His	COSM1296665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68232235A>T	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Val23Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68232233C>T	NCI-TCGA
WLS	Q5T9L3	p.Gln25His	rs752417486	missense variant	-	NC_000001.11:g.68232225T>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Gln25SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.68232224_68232227TTTG>-	NCI-TCGA
WLS	Q5T9L3	p.Ile26Phe	COSM911879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68232224T>A	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Ile26Val	rs764608845	missense variant	-	NC_000001.11:g.68232224T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Ile27Val	rs571754253	missense variant	-	NC_000001.11:g.68232221T>C	TOPMed,gnomAD
WLS	Q5T9L3	p.Ala28Val	rs1446481673	missense variant	-	NC_000001.11:g.68232217G>A	gnomAD
WLS	Q5T9L3	p.Val31Ala	rs1342479853	missense variant	-	NC_000001.11:g.68232208A>G	TOPMed,gnomAD
WLS	Q5T9L3	p.Gly32Arg	rs754478658	missense variant	-	NC_000001.11:g.68232206C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Gly33Ala	rs753335690	missense variant	-	NC_000001.11:g.68232202C>G	ExAC,gnomAD
WLS	Q5T9L3	p.Leu34Phe	rs142958013	missense variant	-	NC_000001.11:g.68232198C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile35Thr	rs760671910	missense variant	-	NC_000001.11:g.68232196A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Pro37Ala	rs906535549	missense variant	-	NC_000001.11:g.68194225G>C	TOPMed
WLS	Q5T9L3	p.Thr40Ala	rs1270543034	missense variant	-	NC_000001.11:g.68194216T>C	TOPMed,gnomAD
WLS	Q5T9L3	p.Thr41Met	rs757203223	missense variant	-	NC_000001.11:g.68194212G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala42Val	rs763804728	missense variant	-	NC_000001.11:g.68194209G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala42Gly	rs763804728	missense variant	-	NC_000001.11:g.68194209G>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala42Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68194210C>T	NCI-TCGA
WLS	Q5T9L3	p.Val43Ala	rs1247182493	missense variant	-	NC_000001.11:g.68194206A>G	gnomAD
WLS	Q5T9L3	p.Ser44Phe	rs149439243	missense variant	-	NC_000001.11:g.68194203G>A	ESP,gnomAD
WLS	Q5T9L3	p.Tyr45Cys	rs754140558	missense variant	-	NC_000001.11:g.68194200T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Tyr45Ser	rs754140558	missense variant	-	NC_000001.11:g.68194200T>G	ExAC,gnomAD
WLS	Q5T9L3	p.Met46Val	rs368633951	missense variant	-	NC_000001.11:g.68194198T>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met46Leu	rs368633951	missense variant	-	NC_000001.11:g.68194198T>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ser47Leu	rs544767216	missense variant	-	NC_000001.11:g.68194194G>A	1000Genomes,ExAC,gnomAD
WLS	Q5T9L3	p.Val48Glu	rs774719446	missense variant	-	NC_000001.11:g.68194191A>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Lys49Arg	rs1164793591	missense variant	-	NC_000001.11:g.68194188T>C	gnomAD
WLS	Q5T9L3	p.Val51Met	rs768925172	missense variant	-	NC_000001.11:g.68194183C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Val51Ala	rs1328210658	missense variant	-	NC_000001.11:g.68194182A>G	TOPMed
WLS	Q5T9L3	p.Ala53Val	COSM1344081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68194176G>A	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Arg54Cys	rs368075278	missense variant	-	NC_000001.11:g.68194174G>A	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg54Pro	rs553607184	missense variant	-	NC_000001.11:g.68194173C>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg54Gly	rs368075278	missense variant	-	NC_000001.11:g.68194174G>C	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg54His	rs553607184	missense variant	-	NC_000001.11:g.68194173C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg54Leu	rs553607184	missense variant	-	NC_000001.11:g.68194173C>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.del55TyrPheTyrTerAsnTrpLeuLys	rs1468434317	stop gained	-	NC_000001.11:g.68194171_68194172insTTTGAGCCAATTCTAATAAAAGTA	gnomAD
WLS	Q5T9L3	p.His58Pro	rs751470492	missense variant	-	NC_000001.11:g.68194161T>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.His58Arg	rs751470492	missense variant	-	NC_000001.11:g.68194161T>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Lys59Asn	COSM911875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68194157C>A	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Lys59Arg	rs777581379	missense variant	-	NC_000001.11:g.68194158T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Thr60Lys	rs1324814155	missense variant	-	NC_000001.11:g.68194155G>T	gnomAD
WLS	Q5T9L3	p.Phe63Leu	rs138728794	missense variant	-	NC_000001.11:g.68194147A>G	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val64Met	rs766692927	missense variant	-	NC_000001.11:g.68194144C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Pro65Ser	rs1368725790	missense variant	-	NC_000001.11:g.68194141G>A	gnomAD
WLS	Q5T9L3	p.Gly67Glu	rs1387104299	missense variant	-	NC_000001.11:g.68194134C>T	gnomAD
WLS	Q5T9L3	p.Gly67Arg	rs1325236247	missense variant	-	NC_000001.11:g.68194135C>T	gnomAD
WLS	Q5T9L3	p.Lys73Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68194117T>C	NCI-TCGA
WLS	Q5T9L3	p.Arg75Gln	rs762333679	missense variant	-	NC_000001.11:g.68194110C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg75Ter	rs1431322012	stop gained	-	NC_000001.11:g.68194111G>A	gnomAD
WLS	Q5T9L3	p.Arg75Pro	rs762333679	missense variant	-	NC_000001.11:g.68194110C>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asp76Gly	rs150131585	missense variant	-	NC_000001.11:g.68194107T>C	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asp76Asn	rs954098988	missense variant	-	NC_000001.11:g.68194108C>T	TOPMed
WLS	Q5T9L3	p.Glu78Lys	rs763208016	missense variant	-	NC_000001.11:g.68194102C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Glu79Val	rs775892939	missense variant	-	NC_000001.11:g.68194098T>A	ExAC,gnomAD
WLS	Q5T9L3	p.Ala80Val	rs1452534553	missense variant	-	NC_000001.11:g.68194095G>A	gnomAD
WLS	Q5T9L3	p.Pro82Ser	rs1250332149	missense variant	-	NC_000001.11:g.68194090G>A	gnomAD
WLS	Q5T9L3	p.Pro82Leu	rs769435154	missense variant	-	NC_000001.11:g.68194089G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg83Thr	rs1290296126	missense variant	-	NC_000001.11:g.68194086C>G	gnomAD
WLS	Q5T9L3	p.Ile85Thr	rs541503463	missense variant	-	NC_000001.11:g.68194080A>G	1000Genomes,ExAC,gnomAD
WLS	Q5T9L3	p.Asn88His	rs770374634	missense variant	-	NC_000001.11:g.68194072T>G	ExAC,gnomAD
WLS	Q5T9L3	p.Asn88Ser	rs1345869035	missense variant	-	NC_000001.11:g.68194071T>C	gnomAD
WLS	Q5T9L3	p.Asp89Asn	rs777546417	missense variant	-	NC_000001.11:g.68194069C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asp89Gly	rs3748704	missense variant	-	NC_000001.11:g.68194068T>C	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile90Met	rs747950708	missense variant	-	NC_000001.11:g.68194064G>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile90Asn	rs1032223810	missense variant	-	NC_000001.11:g.68194065A>T	gnomAD
WLS	Q5T9L3	p.Val91Met	rs778854489	missense variant	-	NC_000001.11:g.68194063C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Phe92Val	COSM4009689	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68194060A>C	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Ser93Pro	rs756346412	missense variant	-	NC_000001.11:g.68194057A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Pro97His	rs1254235090	missense variant	-	NC_000001.11:g.68194044G>T	TOPMed
WLS	Q5T9L3	p.Pro99Arg	rs767595399	missense variant	-	NC_000001.11:g.68194038G>C	ExAC,gnomAD
WLS	Q5T9L3	p.His100Asn	rs143496382	missense variant	-	NC_000001.11:g.68194036G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.His100Tyr	rs143496382	missense variant	-	NC_000001.11:g.68194036G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.His100Asp	rs143496382	missense variant	-	NC_000001.11:g.68194036G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.His100Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68194034G>C	NCI-TCGA
WLS	Q5T9L3	p.Met101Thr	rs763521771	missense variant	-	NC_000001.11:g.68194032A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Met101Val	rs145598961	missense variant	-	NC_000001.11:g.68194033T>C	ESP,TOPMed
WLS	Q5T9L3	p.Pro105Thr	rs1414608786	missense variant	-	NC_000001.11:g.68194021G>T	TOPMed
WLS	Q5T9L3	p.Trp106Ser	rs775768174	missense variant	-	NC_000001.11:g.68194017C>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Gln108Arg	rs570724708	missense variant	-	NC_000001.11:g.68194011T>C	1000Genomes,ExAC,gnomAD
WLS	Q5T9L3	p.Met110Ile	rs770663060	missense variant	-	NC_000001.11:g.68194004C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met110Ile	rs770663060	missense variant	-	NC_000001.11:g.68194004C>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Leu111Val	rs1280908953	missense variant	-	NC_000001.11:g.68194003G>C	gnomAD
WLS	Q5T9L3	p.Leu111Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68194002A>G	NCI-TCGA
WLS	Q5T9L3	p.Gln115Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68193991G>T	NCI-TCGA
WLS	Q5T9L3	p.Asp117Asn	rs772843643	missense variant	-	NC_000001.11:g.68193985C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Asp117His	rs772843643	missense variant	-	NC_000001.11:g.68193985C>G	ExAC,gnomAD
WLS	Q5T9L3	p.Ile118Val	rs371055975	missense variant	-	NC_000001.11:g.68193982T>C	TOPMed
WLS	Q5T9L3	p.Phe120Val	rs1230040980	missense variant	-	NC_000001.11:g.68193976A>C	gnomAD
WLS	Q5T9L3	p.Gln125Arg	rs1350930037	missense variant	-	NC_000001.11:g.68193960T>C	gnomAD
WLS	Q5T9L3	p.Glu128Gln	COSM3805852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68159245C>G	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Asn129Lys	rs756461463	missense variant	-	NC_000001.11:g.68159240A>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asn129Asp	rs1397817828	missense variant	-	NC_000001.11:g.68159242T>C	TOPMed,gnomAD
WLS	Q5T9L3	p.Ala130Val	rs750775053	missense variant	-	NC_000001.11:g.68159238G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val132Leu	rs1362043951	missense variant	-	NC_000001.11:g.68159233C>G	TOPMed
WLS	Q5T9L3	p.Ser133Thr	rs1032499675	missense variant	-	NC_000001.11:g.68159230A>T	TOPMed
WLS	Q5T9L3	p.Met134Thr	rs1455578958	missense variant	-	NC_000001.11:g.68159226A>G	gnomAD
WLS	Q5T9L3	p.Asp135Asn	rs767220868	missense variant	-	NC_000001.11:g.68159224C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Asp135Glu	rs1159698998	missense variant	-	NC_000001.11:g.68159222G>T	gnomAD
WLS	Q5T9L3	p.Val136Ile	rs368487427	missense variant	-	NC_000001.11:g.68159221C>T	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val136Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68159221C>G	NCI-TCGA
WLS	Q5T9L3	p.Ala139Val	rs1446299201	missense variant	-	NC_000001.11:g.68159211G>A	TOPMed
WLS	Q5T9L3	p.Tyr140Cys	rs751107411	missense variant	-	NC_000001.11:g.68159208T>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg141His	COSM426638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68159205C>T	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Asp143Val	rs1384225388	missense variant	-	NC_000001.11:g.68159199T>A	TOPMed
WLS	Q5T9L3	p.Ala144Val	rs146375537	missense variant	-	NC_000001.11:g.68159196G>A	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala144Thr	rs762774039	missense variant	-	NC_000001.11:g.68159197C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala146Gly	rs759321846	missense variant	-	NC_000001.11:g.68159190G>C	ExAC,gnomAD
WLS	Q5T9L3	p.Glu147Lys	rs777451767	missense variant	-	NC_000001.11:g.68159188C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Trp148Gly	rs772279175	missense variant	-	NC_000001.11:g.68159185A>C	ExAC,gnomAD
WLS	Q5T9L3	p.Trp148Ter	rs748429905	stop gained	-	NC_000001.11:g.68159184C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Thr149Ile	COSM3805850	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68159181G>A	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Met151Ile	rs376924151	missense variant	-	NC_000001.11:g.68159174C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met151Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68159176T>C	NCI-TCGA
WLS	Q5T9L3	p.Ala152Thr	rs768822401	missense variant	-	NC_000001.11:g.68159173C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala152Val	rs1034138201	missense variant	-	NC_000001.11:g.68159172G>A	TOPMed,gnomAD
WLS	Q5T9L3	p.His153Arg	rs1367324720	missense variant	-	NC_000001.11:g.68159169T>C	gnomAD
WLS	Q5T9L3	p.His153Tyr	rs1432786546	missense variant	-	NC_000001.11:g.68159170G>A	TOPMed,gnomAD
WLS	Q5T9L3	p.Arg155Thr	rs897644525	missense variant	-	NC_000001.11:g.68159163C>G	TOPMed,gnomAD
WLS	Q5T9L3	p.Arg155Gly	rs749359444	missense variant	-	NC_000001.11:g.68159164T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Arg158Gly	COSM426636	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68159155G>C	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Arg158Gln	rs370140589	missense variant	-	NC_000001.11:g.68159154C>T	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg158Trp	rs373149051	missense variant	-	NC_000001.11:g.68159155G>A	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Leu160Pro	COSM1474171	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68159148A>G	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Leu160Arg	rs781731523	missense variant	-	NC_000001.11:g.68159148A>C	ExAC,gnomAD
WLS	Q5T9L3	p.Lys161Ile	rs756953785	missense variant	-	NC_000001.11:g.68159145T>A	ExAC,gnomAD
WLS	Q5T9L3	p.Thr163Ile	rs763662898	missense variant	-	NC_000001.11:g.68159139G>A	ExAC,gnomAD
WLS	Q5T9L3	p.Thr163Pro	rs751303350	missense variant	-	NC_000001.11:g.68159140T>G	ExAC,gnomAD
WLS	Q5T9L3	p.Ser166Phe	rs1339153382	missense variant	-	NC_000001.11:g.68159130G>A	TOPMed
WLS	Q5T9L3	p.Pro167Ser	rs1421452975	missense variant	-	NC_000001.11:g.68159128G>A	gnomAD
WLS	Q5T9L3	p.Lys168Met	rs775662852	missense variant	-	NC_000001.11:g.68159124T>A	TOPMed
WLS	Q5T9L3	p.Lys168Arg	rs775662852	missense variant	-	NC_000001.11:g.68159124T>C	TOPMed
WLS	Q5T9L3	p.Thr169Ser	rs1203301417	missense variant	-	NC_000001.11:g.68155260T>A	gnomAD
WLS	Q5T9L3	p.Pro170Ser	rs554777494	missense variant	-	NC_000001.11:g.68155257G>A	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Glu173Asp	rs149247893	missense variant	-	NC_000001.11:g.68155246C>G	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Glu173Gln	rs746433942	missense variant	-	NC_000001.11:g.68155248C>G	ExAC,gnomAD
WLS	Q5T9L3	p.Arg175Cys	rs373040642	missense variant	-	NC_000001.11:g.68155242G>A	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg175His	rs534503973	missense variant	-	NC_000001.11:g.68155241C>T	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Tyr177His	rs777430073	missense variant	-	NC_000001.11:g.68155236A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Cys179Phe	rs1411281581	missense variant	-	NC_000001.11:g.68155229C>A	gnomAD
WLS	Q5T9L3	p.Cys179Ser	rs1300394069	missense variant	-	NC_000001.11:g.68155230A>T	TOPMed
WLS	Q5T9L3	p.Asp180Gly	rs973992662	missense variant	-	NC_000001.11:g.68155226T>C	TOPMed
WLS	Q5T9L3	p.Asp180Asn	rs752250717	missense variant	-	NC_000001.11:g.68155227C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Val181Asp	rs764714551	missense variant	-	NC_000001.11:g.68155223A>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Pro183Leu	rs753814975	missense variant	-	NC_000001.11:g.68155217G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met185Val	rs1470476075	missense variant	-	NC_000001.11:g.68155212T>C	gnomAD
WLS	Q5T9L3	p.Met185Thr	rs1411699742	missense variant	-	NC_000001.11:g.68155211A>G	gnomAD
WLS	Q5T9L3	p.Ile187Thr	rs1235240916	missense variant	-	NC_000001.11:g.68155205A>G	TOPMed
WLS	Q5T9L3	p.Ile187Val	rs766335171	missense variant	-	NC_000001.11:g.68155206T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Ser189Cys	rs958517383	missense variant	-	NC_000001.11:g.68155199G>C	TOPMed
WLS	Q5T9L3	p.Val190Leu	rs760412732	missense variant	-	NC_000001.11:g.68155197C>A	ExAC,gnomAD
WLS	Q5T9L3	p.His192Pro	rs1440800104	missense variant	-	NC_000001.11:g.68155190T>G	gnomAD
WLS	Q5T9L3	p.His192Tyr	rs750231429	missense variant	-	NC_000001.11:g.68155191G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.His192Gln	rs764309802	missense variant	-	NC_000001.11:g.68155189A>T	ExAC,gnomAD
WLS	Q5T9L3	p.Lys193Arg	rs1200975329	missense variant	-	NC_000001.11:g.68155187T>C	gnomAD
WLS	Q5T9L3	p.Leu196Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68155178A>C	NCI-TCGA
WLS	Q5T9L3	p.Arg200Gln	rs775326068	missense variant	-	NC_000001.11:g.68155166C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg200Trp	rs775625231	missense variant	-	NC_000001.11:g.68155167G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg200Leu	rs775326068	missense variant	-	NC_000001.11:g.68155166C>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val203Met	rs1445114253	missense variant	-	NC_000001.11:g.68155158C>T	gnomAD
WLS	Q5T9L3	p.Asn204Ser	rs777234549	missense variant	-	NC_000001.11:g.68155154T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Lys207Thr	rs1470629139	missense variant	-	NC_000001.11:g.68155145T>G	TOPMed,gnomAD
WLS	Q5T9L3	p.Asn210Lys	rs747315006	missense variant	-	NC_000001.11:g.68155135A>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asn210Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68155136T>C	NCI-TCGA
WLS	Q5T9L3	p.Val211Leu	rs778070396	missense variant	-	NC_000001.11:g.68155134C>A	ExAC,gnomAD
WLS	Q5T9L3	p.Val211Met	rs778070396	missense variant	-	NC_000001.11:g.68155134C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Gly212Val	rs1268771388	missense variant	-	NC_000001.11:g.68155130C>A	TOPMed
WLS	Q5T9L3	p.Gly212Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68155130C>T	NCI-TCGA
WLS	Q5T9L3	p.Ile213Thr	rs565833395	missense variant	-	NC_000001.11:g.68155127A>G	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile216Thr	rs1428205227	missense variant	-	NC_000001.11:g.68155118A>G	TOPMed
WLS	Q5T9L3	p.Lys217Met	rs1355481712	missense variant	-	NC_000001.11:g.68155115T>A	TOPMed
WLS	Q5T9L3	p.Lys217Asn	rs778457421	missense variant	-	NC_000001.11:g.68155114C>G	ExAC,gnomAD
WLS	Q5T9L3	p.Lys217Gln	rs1020037446	missense variant	-	NC_000001.11:g.68155116T>G	TOPMed,gnomAD
WLS	Q5T9L3	p.Asp218His	rs137997041	missense variant	-	NC_000001.11:g.68155113C>G	ESP
WLS	Q5T9L3	p.Ile219Met	COSM2155293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68155108G>C	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Arg220Gln	rs553213704	missense variant	-	NC_000001.11:g.68155106C>T	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Gly229Val	COSM1560514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68153634C>A	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Thr231Ser	rs1394764795	missense variant	-	NC_000001.11:g.68153628G>C	TOPMed
WLS	Q5T9L3	p.Lys232Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68153624C>A	NCI-TCGA
WLS	Q5T9L3	p.Val233Met	rs778381265	missense variant	-	NC_000001.11:g.68153623C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Trp234Cys	rs566622107	missense variant	-	NC_000001.11:g.68153618C>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Trp234Leu	rs1034593013	missense variant	-	NC_000001.11:g.68153619C>A	gnomAD
WLS	Q5T9L3	p.Met237Thr	rs899145602	missense variant	-	NC_000001.11:g.68153610A>G	TOPMed
WLS	Q5T9L3	p.Met237Val	rs1429125754	missense variant	-	NC_000001.11:g.68153611T>C	TOPMed,gnomAD
WLS	Q5T9L3	p.Met237Lys	rs899145602	missense variant	-	NC_000001.11:g.68153610A>T	TOPMed
WLS	Q5T9L3	p.Phe240Leu	rs1170413503	missense variant	-	NC_000001.11:g.68153602A>G	gnomAD
WLS	Q5T9L3	p.Thr242Lys	rs750375780	missense variant	-	NC_000001.11:g.68153595G>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Thr242Met	rs750375780	missense variant	-	NC_000001.11:g.68153595G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile245Asn	rs535054590	missense variant	-	NC_000001.11:g.68153586A>T	1000Genomes,ExAC,gnomAD
WLS	Q5T9L3	p.Met249Ile	rs755322764	missense variant	-	NC_000001.11:g.68153573C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met249Val	rs765493613	missense variant	-	NC_000001.11:g.68153575T>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met249Thr	rs1405847168	missense variant	-	NC_000001.11:g.68153574A>G	TOPMed,gnomAD
WLS	Q5T9L3	p.Trp251Cys	rs753958149	missense variant	-	NC_000001.11:g.68153567C>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Trp251Ter	rs753958149	stop gained	-	NC_000001.11:g.68153567C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Tyr252Asn	rs766617200	missense variant	-	NC_000001.11:g.68153566A>T	ExAC,gnomAD
WLS	Q5T9L3	p.Trp253Ter	rs1276237881	stop gained	-	NC_000001.11:g.68153562C>T	gnomAD
WLS	Q5T9L3	p.Arg255Ser	rs761216330	missense variant	-	NC_000001.11:g.68153555C>A	ExAC,gnomAD
WLS	Q5T9L3	p.Thr257Ala	rs1005392323	missense variant	-	NC_000001.11:g.68153551T>C	TOPMed
WLS	Q5T9L3	p.Met258Thr	rs201377818	missense variant	-	NC_000001.11:g.68153547A>G	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met258Val	rs200780624	missense variant	-	NC_000001.11:g.68153548T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met258Ile	rs1217791522	missense variant	-	NC_000001.11:g.68153546C>A	gnomAD
WLS	Q5T9L3	p.Met259Ile	rs762026214	missense variant	-	NC_000001.11:g.68153543C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met259Thr	rs1347801732	missense variant	-	NC_000001.11:g.68153544A>G	gnomAD
WLS	Q5T9L3	p.Arg261Ter	rs375331655	stop gained	-	NC_000001.11:g.68153539G>A	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg261Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68153538C>T	NCI-TCGA
WLS	Q5T9L3	p.Pro262Ser	rs1309994202	missense variant	-	NC_000001.11:g.68153536G>A	gnomAD
WLS	Q5T9L3	p.Val264Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68153530C>G	NCI-TCGA
WLS	Q5T9L3	p.Leu266Pro	rs1358464295	missense variant	-	NC_000001.11:g.68153523A>G	gnomAD
WLS	Q5T9L3	p.Glu267Lys	rs1173898074	missense variant	-	NC_000001.11:g.68153521C>T	gnomAD
WLS	Q5T9L3	p.Lys268Gln	rs199608520	missense variant	-	NC_000001.11:g.68153518T>G	1000Genomes,TOPMed,gnomAD
WLS	Q5T9L3	p.Val269Ile	rs774684322	missense variant	-	NC_000001.11:g.68150355C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Phe271Cys	rs1267708910	missense variant	-	NC_000001.11:g.68150348A>C	gnomAD
WLS	Q5T9L3	p.Phe271Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68150348A>G	NCI-TCGA
WLS	Q5T9L3	p.Ala272Thr	rs373658553	missense variant	-	NC_000001.11:g.68150346C>T	ESP,ExAC,gnomAD
WLS	Q5T9L3	p.Leu273Phe	rs1403610407	missense variant	-	NC_000001.11:g.68150343G>A	TOPMed
WLS	Q5T9L3	p.Thr278Asn	rs549083766	missense variant	-	NC_000001.11:g.68150327G>T	1000Genomes,ExAC,gnomAD
WLS	Q5T9L3	p.Asn281Thr	rs1327555345	missense variant	-	NC_000001.11:g.68150318T>G	gnomAD
WLS	Q5T9L3	p.Ile282Met	rs1262656316	missense variant	-	NC_000001.11:g.68150314G>C	gnomAD
WLS	Q5T9L3	p.Trp286Leu	rs1240036964	missense variant	-	NC_000001.11:g.68150303C>A	gnomAD
WLS	Q5T9L3	p.Trp286Cys	rs1321192866	missense variant	-	NC_000001.11:g.68150302C>G	gnomAD
WLS	Q5T9L3	p.Ile289Val	rs769455841	missense variant	-	NC_000001.11:g.68150295T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Gly290Trp	rs560637274	missense variant	-	NC_000001.11:g.68150292C>A	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Gly290Arg	rs560637274	missense variant	-	NC_000001.11:g.68150292C>T	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Phe291Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68150289A>C	NCI-TCGA
WLS	Q5T9L3	p.Trp293Arg	rs1319840166	missense variant	-	NC_000001.11:g.68150283A>G	gnomAD
WLS	Q5T9L3	p.Trp295Cys	rs1268574129	missense variant	-	NC_000001.11:g.68150275C>G	TOPMed
WLS	Q5T9L3	p.Met296Leu	rs770764647	missense variant	-	NC_000001.11:g.68150274T>G	ExAC,gnomAD
WLS	Q5T9L3	p.Met296Arg	rs747019918	missense variant	-	NC_000001.11:g.68150273A>C	ExAC,gnomAD
WLS	Q5T9L3	p.Met296Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68150273A>G	NCI-TCGA
WLS	Q5T9L3	p.Gly300Cys	rs777682277	missense variant	-	NC_000001.11:g.68150262C>A	ExAC,gnomAD
WLS	Q5T9L3	p.Gly300Asp	rs1457147736	missense variant	-	NC_000001.11:g.68150261C>T	gnomAD
WLS	Q5T9L3	p.Asp301Ala	rs758230603	missense variant	-	NC_000001.11:g.68150258T>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asp301Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68150259C>T	NCI-TCGA
WLS	Q5T9L3	p.Ile302Met	rs780367266	missense variant	-	NC_000001.11:g.68150254G>C	ExAC,gnomAD
WLS	Q5T9L3	p.Arg303Pro	rs781389796	missense variant	-	NC_000001.11:g.68150252C>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg303Ter	rs763193261	stop gained	-	NC_000001.11:g.68150253G>A	ExAC,gnomAD
WLS	Q5T9L3	p.Arg303Gln	rs781389796	missense variant	-	NC_000001.11:g.68150252C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Gly305Ala	rs1463773903	missense variant	-	NC_000001.11:g.68150246C>G	TOPMed,gnomAD
WLS	Q5T9L3	p.Gly305Asp	rs1463773903	missense variant	-	NC_000001.11:g.68150246C>T	TOPMed,gnomAD
WLS	Q5T9L3	p.Ile306Val	rs373703620	missense variant	-	NC_000001.11:g.68150244T>C	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile306Ser	rs1326987421	missense variant	-	NC_000001.11:g.68150243A>C	gnomAD
WLS	Q5T9L3	p.Tyr308Phe	rs146556198	missense variant	-	NC_000001.11:g.68150237T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala309Val	rs764615459	missense variant	-	NC_000001.11:g.68150234G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met310Thr	rs1224758616	missense variant	-	NC_000001.11:g.68150231A>G	gnomAD
WLS	Q5T9L3	p.Leu311Phe	rs753071006	missense variant	-	NC_000001.11:g.68150229G>A	ExAC,gnomAD
WLS	Q5T9L3	p.Ile316Phe	rs374500512	missense variant	-	NC_000001.11:g.68150214T>A	ESP,ExAC,gnomAD
WLS	Q5T9L3	p.Glu321Lys	COSM4009683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68150199C>T	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Asp325Asn	rs1198782090	missense variant	-	NC_000001.11:g.68148660C>T	TOPMed
WLS	Q5T9L3	p.Asp325Val	rs759083110	missense variant	-	NC_000001.11:g.68148659T>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.His327Tyr	rs1435104565	missense variant	-	NC_000001.11:g.68148654G>A	TOPMed
WLS	Q5T9L3	p.His327Gln	rs149826196	missense variant	-	NC_000001.11:g.68148652G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Glu328Lys	rs760206984	missense variant	-	NC_000001.11:g.68148651C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg329Trp	rs183229421	missense variant	-	NC_000001.11:g.68148648G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg329Gln	rs150664610	missense variant	-	NC_000001.11:g.68148647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asn330Ser	rs761900253	missense variant	-	NC_000001.11:g.68148644T>C	ExAC,gnomAD
WLS	Q5T9L3	p.His331Tyr	rs1251082677	missense variant	-	NC_000001.11:g.68148642G>A	gnomAD
WLS	Q5T9L3	p.Ile332Val	rs773993560	missense variant	-	NC_000001.11:g.68148639T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Ile332Asn	rs768536303	missense variant	-	NC_000001.11:g.68148638A>T	ExAC,gnomAD
WLS	Q5T9L3	p.Ile332Met	rs17130529	missense variant	-	NC_000001.11:g.68148637G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala333Thr	rs368391265	missense variant	-	NC_000001.11:g.68148636C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala333Ser	rs368391265	missense variant	-	NC_000001.11:g.68148636C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala333Val	rs1204173995	missense variant	-	NC_000001.11:g.68148635G>A	TOPMed,gnomAD
WLS	Q5T9L3	p.Gly334Glu	rs191705869	missense variant	-	NC_000001.11:g.68148632C>T	1000Genomes
WLS	Q5T9L3	p.Trp336Ter	rs1302443592	stop gained	-	NC_000001.11:g.68148626C>T	TOPMed
WLS	Q5T9L3	p.Gln338Leu	rs760112523	missense variant	-	NC_000001.11:g.68148620T>A	ExAC,gnomAD
WLS	Q5T9L3	p.Gln338Arg	rs760112523	missense variant	-	NC_000001.11:g.68148620T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Val339Ile	rs758885772	missense variant	-	NC_000001.11:g.68148618C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Gly340Arg	rs755325364	missense variant	-	NC_000001.11:g.68148615C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile342Thr	rs765990145	missense variant	-	NC_000001.11:g.68148608A>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val344Phe	rs754260821	missense variant	-	NC_000001.11:g.68148603C>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val344Ile	rs754260821	missense variant	-	NC_000001.11:g.68148603C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val344Ala	rs1471162847	missense variant	-	NC_000001.11:g.68148602A>G	gnomAD
WLS	Q5T9L3	p.Gly345Ser	rs1489605832	missense variant	-	NC_000001.11:g.68148600C>T	TOPMed
WLS	Q5T9L3	p.Ser346Phe	rs761809939	missense variant	-	NC_000001.11:g.68148596G>A	ExAC,gnomAD
WLS	Q5T9L3	p.Phe347Ser	rs1459962353	missense variant	-	NC_000001.11:g.68148593A>G	gnomAD
WLS	Q5T9L3	p.Phe347Leu	rs774305005	missense variant	-	NC_000001.11:g.68148594A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Phe347Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68148594A>C	NCI-TCGA
WLS	Q5T9L3	p.Cys348Arg	rs763960267	missense variant	-	NC_000001.11:g.68148591A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Ile351Val	rs762748650	missense variant	-	NC_000001.11:g.68148582T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Asp353Tyr	COSM911865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68148576C>A	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Asp353Gly	rs1464290583	missense variant	-	NC_000001.11:g.68148575T>C	gnomAD
WLS	Q5T9L3	p.Met354Val	rs771136118	missense variant	-	NC_000001.11:g.68148573T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Cys355Tyr	rs747286814	missense variant	-	NC_000001.11:g.68148569C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg357Lys	COSM4838318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68148563C>T	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Leu361Phe	rs1244691536	missense variant	-	NC_000001.11:g.68148189G>A	gnomAD
WLS	Q5T9L3	p.Thr362Met	rs200839533	missense variant	-	NC_000001.11:g.68148185G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Thr362Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68148186T>G	NCI-TCGA
WLS	Q5T9L3	p.Pro364Ala	rs1323164865	missense variant	-	NC_000001.11:g.68148180G>C	gnomAD
WLS	Q5T9L3	p.Ser367Gly	rs1267796107	missense variant	-	NC_000001.11:g.68148171T>C	TOPMed
WLS	Q5T9L3	p.Ile368Thr	rs769194665	missense variant	-	NC_000001.11:g.68148167A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Trp369Leu	rs749809422	missense variant	-	NC_000001.11:g.68148164C>A	ExAC,gnomAD
WLS	Q5T9L3	p.Thr370Ile	rs377649019	missense variant	-	NC_000001.11:g.68148161G>A	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Thr370Ala	rs1448847233	missense variant	-	NC_000001.11:g.68148162T>C	gnomAD
WLS	Q5T9L3	p.Asp372Asn	rs770242439	missense variant	-	NC_000001.11:g.68148156C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Ile373Val	rs950142058	missense variant	-	NC_000001.11:g.68148153T>C	TOPMed,gnomAD
WLS	Q5T9L3	p.Ile373Thr	rs746256483	missense variant	-	NC_000001.11:g.68148152A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Gly374Arg	rs1196841907	missense variant	-	NC_000001.11:g.68148150C>T	gnomAD
WLS	Q5T9L3	p.Thr375Ala	rs1490697114	missense variant	-	NC_000001.11:g.68148147T>C	gnomAD
WLS	Q5T9L3	p.Leu377Pro	rs780933286	missense variant	-	NC_000001.11:g.68148140A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Met379Thr	rs1157974780	missense variant	-	NC_000001.11:g.68146011A>G	gnomAD
WLS	Q5T9L3	p.Ile382Val	rs1167594366	missense variant	-	NC_000001.11:g.68146003T>C	gnomAD
WLS	Q5T9L3	p.Val384Met	rs541018004	missense variant	-	NC_000001.11:g.68145997C>T	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile387Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68145988T>A	NCI-TCGA
WLS	Q5T9L3	p.Cys390Tyr	rs762882816	missense variant	-	NC_000001.11:g.68145978C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Phe393Ile	rs775714644	missense variant	-	NC_000001.11:g.68145970A>T	ExAC,gnomAD
WLS	Q5T9L3	p.Met399Leu	rs1224245364	missense variant	-	NC_000001.11:g.68145952T>G	TOPMed,gnomAD
WLS	Q5T9L3	p.Met399Val	rs1224245364	missense variant	-	NC_000001.11:g.68145952T>C	TOPMed,gnomAD
WLS	Q5T9L3	p.Val400Ala	rs1381900985	missense variant	-	NC_000001.11:g.68145948A>G	gnomAD
WLS	Q5T9L3	p.Phe401Leu	COSM911863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68145944A>C	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Gln402Pro	rs747426311	missense variant	-	NC_000001.11:g.68145942T>G	ExAC,gnomAD
WLS	Q5T9L3	p.Gln402Lys	rs771236969	missense variant	-	NC_000001.11:g.68145943G>T	ExAC,gnomAD
WLS	Q5T9L3	p.Val403Leu	rs969490308	missense variant	-	NC_000001.11:g.68145940C>G	TOPMed
WLS	Q5T9L3	p.Val403Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68145939A>G	NCI-TCGA
WLS	Q5T9L3	p.Arg405Gln	rs200028453	missense variant	-	NC_000001.11:g.68145933C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg405Trp	rs772685057	missense variant	-	NC_000001.11:g.68145934G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile407Val	rs747655642	missense variant	-	NC_000001.11:g.68145928T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Ser408Arg	rs1006464584	missense variant	-	NC_000001.11:g.68145923A>C	gnomAD
WLS	Q5T9L3	p.Gly409Ala	rs1377523062	missense variant	-	NC_000001.11:g.68145921C>G	TOPMed
WLS	Q5T9L3	p.Lys410Glu	COSM464899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68145919T>C	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Ser413Arg	rs374389935	missense variant	-	NC_000001.11:g.68145908G>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ala416Val	rs749265229	missense variant	-	NC_000001.11:g.68145900G>A	ExAC,gnomAD
WLS	Q5T9L3	p.Met417Lys	rs780072895	missense variant	-	NC_000001.11:g.68145897A>T	ExAC,gnomAD
WLS	Q5T9L3	p.Ser418Gly	rs755815093	missense variant	-	NC_000001.11:g.68145895T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Ser418Arg	rs1244195134	missense variant	-	NC_000001.11:g.68145893G>T	gnomAD
WLS	Q5T9L3	p.Arg421Trp	COSM5673041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68145886G>A	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Arg421Gln	rs750244529	missense variant	-	NC_000001.11:g.68145885C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Arg421Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68145886G>C	NCI-TCGA
WLS	Q5T9L3	p.Arg422Trp	rs202076524	missense variant	-	NC_000001.11:g.68145883G>A	ExAC,gnomAD
WLS	Q5T9L3	p.Arg422Gln	rs763172046	missense variant	-	NC_000001.11:g.68145882C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.His424Arg	rs777234805	missense variant	-	NC_000001.11:g.68145876T>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.His424Leu	rs777234805	missense variant	-	NC_000001.11:g.68145876T>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Tyr425His	rs888029073	missense variant	-	NC_000001.11:g.68145874A>G	gnomAD
WLS	Q5T9L3	p.Gly427Glu	rs1392022977	missense variant	-	NC_000001.11:g.68144651C>T	gnomAD
WLS	Q5T9L3	p.Ile429Thr	rs773427249	missense variant	-	NC_000001.11:g.68144645A>G	ExAC
WLS	Q5T9L3	p.Phe430LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.68144641A>-	NCI-TCGA
WLS	Q5T9L3	p.Lys433Arg	rs150138976	missense variant	-	NC_000001.11:g.68144633T>C	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Phe434Ser	rs1480258381	missense variant	-	NC_000001.11:g.68144630A>G	gnomAD
WLS	Q5T9L3	p.Leu437Phe	rs773945533	missense variant	-	NC_000001.11:g.68144622G>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ile438Val	rs768308570	missense variant	-	NC_000001.11:g.68144619T>C	ExAC,gnomAD
WLS	Q5T9L3	p.Leu440Val	rs1341195155	missense variant	-	NC_000001.11:g.68144613A>C	gnomAD
WLS	Q5T9L3	p.Ala441Ser	rs889137737	missense variant	-	NC_000001.11:g.68144610C>A	gnomAD
WLS	Q5T9L3	p.Ala441Thr	rs889137737	missense variant	-	NC_000001.11:g.68144610C>T	gnomAD
WLS	Q5T9L3	p.Ala441Val	rs1222493713	missense variant	-	NC_000001.11:g.68144609G>A	gnomAD
WLS	Q5T9L3	p.Cys442Tyr	rs769604518	missense variant	-	NC_000001.11:g.68144606C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Ala443Thr	rs770806676	missense variant	-	NC_000001.11:g.68144604C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Ala443Pro	rs770806676	missense variant	-	NC_000001.11:g.68144604C>G	ExAC,gnomAD
WLS	Q5T9L3	p.Ala444Asp	rs1334662559	missense variant	-	NC_000001.11:g.68144600G>T	gnomAD
WLS	Q5T9L3	p.Met445Thr	COSM911861	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68144597A>G	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Met445Ile	rs746820319	missense variant	-	NC_000001.11:g.68144596C>G	ExAC,gnomAD
WLS	Q5T9L3	p.Ile451Met	rs201544180	missense variant	-	NC_000001.11:g.68144578G>C	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val452Ile	rs778142595	missense variant	-	NC_000001.11:g.68144577C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val452Phe	rs778142595	missense variant	-	NC_000001.11:g.68144577C>A	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Ser453Thr	rs1371106483	missense variant	-	NC_000001.11:g.68144573C>G	TOPMed
WLS	Q5T9L3	p.Ser453Asn	rs1371106483	missense variant	-	NC_000001.11:g.68144573C>T	TOPMed
WLS	Q5T9L3	p.Gln454His	rs1332510685	missense variant	-	NC_000001.11:g.68144569C>G	gnomAD
WLS	Q5T9L3	p.Val455Ile	rs1199720466	missense variant	-	NC_000001.11:g.68137933C>T	TOPMed
WLS	Q5T9L3	p.Thr456Met	rs140465138	missense variant	-	NC_000001.11:g.68137929G>A	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.His459Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68137919A>C	NCI-TCGA
WLS	Q5T9L3	p.Trp462Arg	rs764816861	missense variant	-	NC_000001.11:g.68137912A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Gly463Arg	rs1402456775	missense variant	-	NC_000001.11:g.68137909C>G	TOPMed,gnomAD
WLS	Q5T9L3	p.Gly464Cys	COSM6127157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68137906C>A	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Gly464Ser	rs1162833281	missense variant	-	NC_000001.11:g.68137906C>T	gnomAD
WLS	Q5T9L3	p.Val465Ile	rs983034	missense variant	-	NC_000001.11:g.68137903C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Thr466Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68137900T>C	NCI-TCGA
WLS	Q5T9L3	p.Val467Ile	rs1474972960	missense variant	-	NC_000001.11:g.68137897C>T	TOPMed,gnomAD
WLS	Q5T9L3	p.Gln468Ter	COSM3492052	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.68137894G>A	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Gln468Arg	rs1400480877	missense variant	-	NC_000001.11:g.68137893T>C	TOPMed
WLS	Q5T9L3	p.Gln468His	rs747919046	missense variant	-	NC_000001.11:g.68137892T>A	ExAC,gnomAD
WLS	Q5T9L3	p.Gln468Pro	rs1400480877	missense variant	-	NC_000001.11:g.68137893T>G	TOPMed
WLS	Q5T9L3	p.Ser471Asn	rs1488328865	missense variant	-	NC_000001.11:g.68137884C>T	TOPMed,gnomAD
WLS	Q5T9L3	p.Ser471Thr	rs1488328865	missense variant	-	NC_000001.11:g.68137884C>G	TOPMed,gnomAD
WLS	Q5T9L3	p.Ala472Val	rs1290466762	missense variant	-	NC_000001.11:g.68137881G>A	gnomAD
WLS	Q5T9L3	p.Phe474SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.68137875A>-	NCI-TCGA
WLS	Q5T9L3	p.Ile477Leu	rs775725554	missense variant	-	NC_000001.11:g.68137867T>G	ExAC,gnomAD
WLS	Q5T9L3	p.Tyr478Cys	rs985347096	missense variant	-	NC_000001.11:g.68137863T>C	TOPMed,gnomAD
WLS	Q5T9L3	p.Met480Thr	rs1292674921	missense variant	-	NC_000001.11:g.68137857A>G	gnomAD
WLS	Q5T9L3	p.Asn482His	rs1229194863	missense variant	-	NC_000001.11:g.68137852T>G	gnomAD
WLS	Q5T9L3	p.Ala487Val	rs1339147174	missense variant	-	NC_000001.11:g.68137836G>A	gnomAD
WLS	Q5T9L3	p.Met489Ile	rs142571662	missense variant	-	NC_000001.11:g.68137829C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Met489Thr	rs745953882	missense variant	-	NC_000001.11:g.68137830A>G	ExAC,gnomAD
WLS	Q5T9L3	p.Tyr492Cys	rs1302671362	missense variant	-	NC_000001.11:g.68137821T>C	gnomAD
WLS	Q5T9L3	p.Pro494Ser	rs1367314990	missense variant	-	NC_000001.11:g.68137816G>A	gnomAD
WLS	Q5T9L3	p.Lys497Thr	COSM3805842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68137806T>G	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Asn498His	rs778280457	missense variant	-	NC_000001.11:g.68137804T>G	ExAC,gnomAD
WLS	Q5T9L3	p.Tyr499Cys	rs367885134	missense variant	-	NC_000001.11:g.68137800T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Gly500Arg	rs753014700	missense variant	-	NC_000001.11:g.68137798C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asn505Asp	rs1267776678	missense variant	-	NC_000001.11:g.68137783T>C	gnomAD
WLS	Q5T9L3	p.Asn505Thr	rs764940216	missense variant	-	NC_000001.11:g.68137782T>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asn505Ser	rs764940216	missense variant	-	NC_000001.11:g.68137782T>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Gly506Asp	COSM5100846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.68126335C>T	NCI-TCGA Cosmic
WLS	Q5T9L3	p.Gly506Val	rs762768486	missense variant	-	NC_000001.11:g.68126335C>A	ExAC,gnomAD
WLS	Q5T9L3	p.Asp507Asn	rs142863298	missense variant	-	NC_000001.11:g.68126333C>T	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Asp507His	rs142863298	missense variant	-	NC_000001.11:g.68126333C>G	1000Genomes,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Gly509Ser	rs772610769	missense variant	-	NC_000001.11:g.68126327C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Val510Ile	rs1251638197	missense variant	-	NC_000001.11:g.68126324C>T	TOPMed
WLS	Q5T9L3	p.Gly513Ala	rs374994390	missense variant	-	NC_000001.11:g.68126314C>G	ESP,ExAC,gnomAD
WLS	Q5T9L3	p.Gly513Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68126314C>T	NCI-TCGA
WLS	Q5T9L3	p.Glu514Lys	rs779506116	missense variant	-	NC_000001.11:g.68126312C>T	ExAC,gnomAD
WLS	Q5T9L3	p.Glu515Lys	rs1358701011	missense variant	-	NC_000001.11:g.68126309C>T	TOPMed
WLS	Q5T9L3	p.Leu516Phe	rs371753437	missense variant	-	NC_000001.11:g.68126306G>A	ESP,ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Leu518Pro	rs80319761	missense variant	-	NC_000001.11:g.68126299A>G	gnomAD
WLS	Q5T9L3	p.Thr519Pro	rs749937551	missense variant	-	NC_000001.11:g.68126297T>G	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Thr519Ala	rs749937551	missense variant	-	NC_000001.11:g.68126297T>C	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Thr520Ile	rs757184468	missense variant	-	NC_000001.11:g.68126293G>A	ExAC,gnomAD
WLS	Q5T9L3	p.Val525Gly	rs1490354675	missense variant	-	NC_000001.11:g.68126278A>C	TOPMed
WLS	Q5T9L3	p.Asp526Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68126275T>C	NCI-TCGA
WLS	Q5T9L3	p.Gly527Arg	rs764113746	missense variant	-	NC_000001.11:g.68126273C>T	ExAC,TOPMed,gnomAD
WLS	Q5T9L3	p.Thr529Ser	rs1208787795	missense variant	-	NC_000001.11:g.68126267T>A	gnomAD
WLS	Q5T9L3	p.Glu530Asp	rs752492386	missense variant	-	NC_000001.11:g.68126262C>G	ExAC,gnomAD
WLS	Q5T9L3	p.Lys533Thr	rs1211633783	missense variant	-	NC_000001.11:g.68126254T>G	gnomAD
WLS	Q5T9L3	p.Arg536Cys	rs773311381	missense variant	-	NC_000001.11:g.68126246G>A	ExAC,gnomAD
WLS	Q5T9L3	p.Lys537Asn	rs1319499255	missense variant	-	NC_000001.11:g.68126241C>A	gnomAD
WLS	Q5T9L3	p.Glu538Lys	rs1278458589	missense variant	-	NC_000001.11:g.68126240C>T	gnomAD
WLS	Q5T9L3	p.Gln540Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.68126233T>C	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Leu2Pro	rs1360021870	missense variant	-	NC_000010.11:g.103855262A>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu2Phe	rs1005117513	missense variant	-	NC_000010.11:g.103855263G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala3Thr	rs1313364610	missense variant	-	NC_000010.11:g.103855260C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Cys5Tyr	rs754861600	missense variant	-	NC_000010.11:g.103855253C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Cys5Ser	rs754861600	missense variant	-	NC_000010.11:g.103855253C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val6Leu	rs753738859	missense variant	-	NC_000010.11:g.103855251C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val6Met	rs753738859	missense variant	-	NC_000010.11:g.103855251C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr10Ala	rs1485231470	missense variant	-	NC_000010.11:g.103855239T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg18Lys	rs1257619915	missense variant	-	NC_000010.11:g.103855214C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Ile27Val	rs1190371040	missense variant	-	NC_000010.11:g.103801356T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Asn29Ser	rs566845122	missense variant	-	NC_000010.11:g.103801349T>C	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn29Asp	rs961692005	missense variant	-	NC_000010.11:g.103801350T>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr31Ile	rs1202685286	missense variant	-	NC_000010.11:g.103801343G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser37Phe	COSM3433890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103801325G>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Ser37Cys	rs748432001	missense variant	-	NC_000010.11:g.103801325G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr39Ile	COSM914443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103801319G>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Ile40Val	rs779004473	missense variant	-	NC_000010.11:g.103801317T>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr41Cys	rs1433448388	missense variant	-	NC_000010.11:g.103801313T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Arg42Gln	rs1450453209	missense variant	-	NC_000010.11:g.103801310C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg43Lys	rs1353675755	missense variant	-	NC_000010.11:g.103801307C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Phe47Leu	COSM914442	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103801294G>T	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Asp49Glu	rs142363666	missense variant	-	NC_000010.11:g.103801288G>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Met52Val	rs766880400	missense variant	-	NC_000010.11:g.103767169T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp56Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103767155A>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Asp56Val	rs1043329139	missense variant	-	NC_000010.11:g.103767156T>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys57Glu	rs761240387	missense variant	-	NC_000010.11:g.103767154T>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys57Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103767154T>G	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Pro59Ser	rs1165422933	missense variant	-	NC_000010.11:g.103767148G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Ile60Thr	rs1337528700	missense variant	-	NC_000010.11:g.103767144A>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly63Cys	COSM4011412	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103767136C>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Lys65Asn	rs943566522	missense variant	-	NC_000010.11:g.103767128C>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Lys68Met	rs1304573101	missense variant	-	NC_000010.11:g.103767120T>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Gln69Lys	rs773270349	missense variant	-	NC_000010.11:g.103767118G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg70Gly	rs772086631	missense variant	-	NC_000010.11:g.103767115T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro73Ser	rs1438282546	missense variant	-	NC_000010.11:g.103767106G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu80Phe	rs1168652934	missense variant	-	NC_000010.11:g.103735800G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu80Ile	rs1168652934	missense variant	-	NC_000010.11:g.103735800G>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg82Cys	rs1476517906	missense variant	-	NC_000010.11:g.103735794G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg82His	rs200780520	missense variant	-	NC_000010.11:g.103735793C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg82Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103735793C>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Arg83Lys	rs768916662	missense variant	-	NC_000010.11:g.103735790C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser84Asn	rs1380286672	missense variant	-	NC_000010.11:g.103735787C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Ile86Phe	rs1259473323	missense variant	-	NC_000010.11:g.103735782T>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg87Gln	rs775793318	missense variant	-	NC_000010.11:g.103735778C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg87Trp	rs749529339	missense variant	-	NC_000010.11:g.103735779G>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Arg87Trp	rs749529339	missense variant	-	NC_000010.11:g.103735779G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp88Tyr	COSM3790449	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103735776C>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Asp88Asn	rs769645818	missense variant	-	NC_000010.11:g.103735776C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val89Leu	rs140324699	missense variant	-	NC_000010.11:g.103735773C>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val89Ile	rs140324699	missense variant	-	NC_000010.11:g.103735773C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys92Arg	rs1286422479	missense variant	-	NC_000010.11:g.103735763T>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro96Ser	rs1340179182	missense variant	-	NC_000010.11:g.103735752G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ile97Val	rs1277117176	missense variant	-	NC_000010.11:g.103735749T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp98Asn	rs1398442660	missense variant	-	NC_000010.11:g.103735746C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg102Trp	rs758059765	missense variant	-	NC_000010.11:g.103735734G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg102Pro	rs143409187	missense variant	-	NC_000010.11:g.103735733C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg102Gln	rs143409187	missense variant	-	NC_000010.11:g.103735733C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala103Thr	rs372408078	missense variant	-	NC_000010.11:g.103724361C>T	NCI-TCGA,NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Ala103Pro	COSM6128098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103724361C>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Ala103Thr	rs372408078	missense variant	-	NC_000010.11:g.103724361C>T	ESP,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala103Ser	rs372408078	missense variant	-	NC_000010.11:g.103724361C>A	ESP,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val105Ala	COSM914441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103724354A>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Arg106Gln	rs139971124	missense variant	-	NC_000010.11:g.103724351C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro109His	rs764693058	missense variant	-	NC_000010.11:g.103724342G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro109Leu	rs764693058	missense variant	-	NC_000010.11:g.103724342G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.His110ThrPheSerTerUnkUnk	COSM5747181	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103724340G>-	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.His110Tyr	rs149867987	missense variant	-	NC_000010.11:g.103724340G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.His110Asn	rs149867987	missense variant	-	NC_000010.11:g.103724340G>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.His110Asp	rs149867987	missense variant	-	NC_000010.11:g.103724340G>C	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.His110ProPheSerTerUnk	rs777796332	frameshift	-	NC_000010.11:g.103724339_103724340insG	NCI-TCGA,NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Ser112Leu	rs1166375374	missense variant	-	NC_000010.11:g.103724333G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu116Lys	rs1176333434	missense variant	-	NC_000010.11:g.103724322C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu116Lys	rs1176333434	missense variant	-	NC_000010.11:g.103724322C>T	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Glu116Gln	rs1176333434	missense variant	-	NC_000010.11:g.103724322C>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val117Leu	rs1243361641	missense variant	-	NC_000010.11:g.103724319C>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg119Gln	rs537392376	missense variant	-	NC_000010.11:g.103724312C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg119Pro	COSM683464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103724312C>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Arg119Trp	rs760527451	missense variant	-	NC_000010.11:g.103724313G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu122Lys	rs867071115	missense variant	-	NC_000010.11:g.103724304C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala123Val	COSM914439	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103724300G>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Arg124Gln	rs200891786	missense variant	-	NC_000010.11:g.103724297C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg124Ter	rs139050830	stop gained	-	NC_000010.11:g.103724298G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro125Leu	rs773914702	missense variant	-	NC_000010.11:g.103724294G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro125Ala	rs1398061001	missense variant	-	NC_000010.11:g.103724295G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu126Lys	rs748879853	missense variant	-	NC_000010.11:g.103724292C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn129Thr	rs552256820	missense variant	-	NC_000010.11:g.103724282T>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn129Ser	rs552256820	missense variant	-	NC_000010.11:g.103724282T>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn129Lys	rs1252197515	missense variant	-	NC_000010.11:g.103724281G>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Pro131Leu	rs1425147269	missense variant	-	NC_000010.11:g.103724276G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Pro131Leu	rs1425147269	missense variant	-	NC_000010.11:g.103724276G>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Glu133Gly	rs200512666	missense variant	-	NC_000010.11:g.103724270T>C	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu133Val	rs200512666	missense variant	-	NC_000010.11:g.103724270T>A	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr135Cys	rs1306879501	missense variant	-	NC_000010.11:g.103693051T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly136Ser	rs914094677	missense variant	-	NC_000010.11:g.103693049C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser137Asn	rs769317587	missense variant	-	NC_000010.11:g.103693045C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser138Cys	rs759297756	missense variant	-	NC_000010.11:g.103693042G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser138Phe	rs759297756	missense variant	-	NC_000010.11:g.103693042G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser138Pro	rs1324926595	missense variant	-	NC_000010.11:g.103693043A>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Lys141Gln	rs551918548	missense variant	-	NC_000010.11:g.103693034T>G	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser142Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103693030G>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Trp144Ter	rs149386041	stop gained	-	NC_000010.11:g.103668648C>T	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser147Arg	rs1405864132	missense variant	-	NC_000010.11:g.103668639G>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser147Ile	rs1330815454	missense variant	-	NC_000010.11:g.103668640C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu150Ter	rs1415818432	stop gained	-	NC_000010.11:g.103668632C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser151Leu	rs200454434	missense variant	-	NC_000010.11:g.103668628G>A	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys153Arg	rs763250710	missense variant	-	NC_000010.11:g.103668622T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp155Val	rs770243854	missense variant	-	NC_000010.11:g.103668616T>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val156Met	rs370795778	missense variant	-	NC_000010.11:g.103668614C>T	ESP,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val156Leu	rs370795778	missense variant	-	NC_000010.11:g.103668614C>G	ESP,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr157Ile	rs1221724532	missense variant	-	NC_000010.11:g.103668610G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr157Arg	rs1221724532	missense variant	-	NC_000010.11:g.103668610G>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly158Ala	rs772220322	missense variant	-	NC_000010.11:g.103661114C>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly158Arg	rs1452855343	missense variant	-	NC_000010.11:g.103668608C>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala159Thr	rs1190180926	missense variant	-	NC_000010.11:g.103661112C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp160Glu	COSM3367881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103661107G>T	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Asp160Asn	rs1261389191	missense variant	-	NC_000010.11:g.103661109C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Ala161Thr	rs778626806	missense variant	-	NC_000010.11:g.103661106C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala161Val	rs954522846	missense variant	-	NC_000010.11:g.103661105G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr162Asn	rs1260567777	missense variant	-	NC_000010.11:g.103661102G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala163Gly	rs1484613264	missense variant	-	NC_000010.11:g.103661099G>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala163Thr	rs1211083764	missense variant	-	NC_000010.11:g.103661100C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu164Lys	rs749994972	missense variant	-	NC_000010.11:g.103661097C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu164Asp	rs548414943	missense variant	-	NC_000010.11:g.103661095C>G	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Met166Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103661089C>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Glu169Gln	rs1279938709	missense variant	-	NC_000010.11:g.103661082C>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu169Gly	rs1398081631	missense variant	-	NC_000010.11:g.103661081T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Gln170Glu	rs753101031	missense variant	-	NC_000010.11:g.103661079G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln170His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103661077C>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Tyr171His	rs772430992	missense variant	-	NC_000010.11:g.103661076A>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val172Ala	COSM1345613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103661072A>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Val172Met	rs754292436	missense variant	-	NC_000010.11:g.103661073C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val172Leu	rs754292436	missense variant	-	NC_000010.11:g.103661073C>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val172Glu	rs1175310067	missense variant	-	NC_000010.11:g.103661072A>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser175Phe	rs766899736	missense variant	-	NC_000010.11:g.103661063G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn176Ser	rs566015876	missense variant	-	NC_000010.11:g.103661060T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr177His	rs773325825	missense variant	-	NC_000010.11:g.103661058A>G	ExAC
SH3PXD2A	Q5TCZ1	p.Glu181Asp	COSM4867424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103661044C>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Asn182Lys	COSM3433887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103661041G>C	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Asn182Ser	rs1173441198	missense variant	-	NC_000010.11:g.103661042T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser186Asn	rs761878823	missense variant	-	NC_000010.11:g.103661030C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala189Ser	rs768289473	missense variant	-	NC_000010.11:g.103661022C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala189Asp	rs1312431998	missense variant	-	NC_000010.11:g.103661021G>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala189Thr	rs768289473	missense variant	-	NC_000010.11:g.103661022C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly190Arg	rs1414110348	missense variant	-	NC_000010.11:g.103661019C>T	-
SH3PXD2A	Q5TCZ1	p.Glu191Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103661016C>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Val192Met	rs1235904657	missense variant	-	NC_000010.11:g.103661013C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu200Gln	rs769902522	missense variant	-	NC_000010.11:g.103660989C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu200Lys	rs769902522	missense variant	-	NC_000010.11:g.103660989C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly202Ser	rs1216715805	missense variant	-	NC_000010.11:g.103660983C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Val206Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103627191C>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ser209Tyr	rs777256655	missense variant	-	NC_000010.11:g.103627181G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu211Lys	rs1179938628	missense variant	-	NC_000010.11:g.103627176C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Gln212Glu	rs1268864724	missense variant	-	NC_000010.11:g.103627173G>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln212Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103627172T>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Val215Ala	rs756487203	missense variant	-	NC_000010.11:g.103627163A>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala217Val	rs370026425	missense variant	-	NC_000010.11:g.103627157G>A	ESP,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn224Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103627137T>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Gly225Val	rs751711689	missense variant	-	NC_000010.11:g.103627133C>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr226Ile	rs376429114	missense variant	-	NC_000010.11:g.103627130G>A	ESP,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg227Gln	rs573274664	missense variant	-	NC_000010.11:g.103627127C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg227Gly	rs973127894	missense variant	-	NC_000010.11:g.103627128G>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg227Trp	rs973127894	missense variant	-	NC_000010.11:g.103627128G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp228Asn	rs763334045	missense variant	-	NC_000010.11:g.103627125C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp228Tyr	rs763334045	missense variant	-	NC_000010.11:g.103627125C>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser230Phe	COSM3433886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103627118G>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Asp231Asn	rs147297499	missense variant	-	NC_000010.11:g.103627116C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile232Val	rs776390133	missense variant	-	NC_000010.11:g.103627113T>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn233Asp	rs1303116164	missense variant	-	NC_000010.11:g.103627110T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Asn233Ile	rs770939335	missense variant	-	NC_000010.11:g.103627109T>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser235Phe	rs144033187	missense variant	-	NC_000010.11:g.103627103G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys236Glu	rs772833585	missense variant	-	NC_000010.11:g.103627101T>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu239Val	rs1453401781	missense variant	-	NC_000010.11:g.103627091T>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu239Asp	rs771704485	missense variant	-	NC_000010.11:g.103627090T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys242Arg	rs925458185	missense variant	-	NC_000010.11:g.103622547T>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg244His	rs1341449107	missense variant	-	NC_000010.11:g.103622541C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg244Cys	rs746206752	missense variant	-	NC_000010.11:g.103622542G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg249Gln	rs893064778	missense variant	-	NC_000010.11:g.103622526C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg249Trp	rs1009820415	missense variant	-	NC_000010.11:g.103622527G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg250His	rs910209228	missense variant	-	NC_000010.11:g.103622523C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg250Cys	rs1054273824	missense variant	-	NC_000010.11:g.103622524G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg253Cys	rs537151936	missense variant	-	NC_000010.11:g.103622515G>A	1000Genomes,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg253His	rs1472972520	missense variant	-	NC_000010.11:g.103622514C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg254Trp	rs1370037332	missense variant	-	NC_000010.11:g.103622512G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg254Gln	rs578015462	missense variant	-	NC_000010.11:g.103622511C>T	1000Genomes,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg254Leu	rs578015462	missense variant	-	NC_000010.11:g.103622511C>A	1000Genomes,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Trp255Arg	rs1443673334	missense variant	-	NC_000010.11:g.103622509A>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu257Val	rs1238229110	missense variant	-	NC_000010.11:g.103622503G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly258Arg	rs1197396033	missense variant	-	NC_000010.11:g.103622500C>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Gly259Arg	rs927146287	missense variant	-	NC_000010.11:g.103622497C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly259Ala	rs1045559878	missense variant	-	NC_000010.11:g.103622496C>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Met260Val	rs1195745446	missense variant	-	NC_000010.11:g.103622494T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Met260Ile	rs971974123	missense variant	-	NC_000010.11:g.103622492C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Ser266Asn	rs1317684227	missense variant	-	NC_000010.11:g.103622475C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg267Gln	rs557881180	missense variant	-	NC_000010.11:g.103622472C>T	1000Genomes,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu269Lys	rs775020448	missense variant	-	NC_000010.11:g.103617312C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr271Phe	rs1406563761	missense variant	-	NC_000010.11:g.103617305T>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr271His	rs747363516	missense variant	-	NC_000010.11:g.103617306A>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val274Glu	rs1271631505	missense variant	-	NC_000010.11:g.103617296A>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Val274Met	rs138514344	missense variant	-	NC_000010.11:g.103617297C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr277His	rs779197677	missense variant	-	NC_000010.11:g.103617288A>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr278Ile	rs375071473	missense variant	-	NC_000010.11:g.103617284G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr278Asn	rs375071473	missense variant	-	NC_000010.11:g.103617284G>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser279Asn	rs900349964	missense variant	-	NC_000010.11:g.103617281C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Asp283Glu	rs780174314	missense variant	-	NC_000010.11:g.103617268G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu284Asp	rs750272182	missense variant	-	NC_000010.11:g.103617265C>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu284Lys	rs755909162	missense variant	-	NC_000010.11:g.103617267C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile285Met	rs1283856620	missense variant	-	NC_000010.11:g.103617262A>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu288Lys	rs1378075924	missense variant	-	NC_000010.11:g.103617255C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu288Gln	COSM427022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103617255C>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Lys289Asn	rs1395793197	missense variant	-	NC_000010.11:g.103617250C>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Gly290Asp	rs767433126	missense variant	-	NC_000010.11:g.103617248C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val291Ile	rs751502344	missense variant	-	NC_000010.11:g.103617246C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr292Arg	rs1008944183	missense variant	-	NC_000010.11:g.103617242G>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Val293Ala	rs1226877575	missense variant	-	NC_000010.11:g.103617239A>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu294Asp	rs754882553	missense variant	-	NC_000010.11:g.103617235C>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Arg297Trp	rs1428185989	missense variant	-	NC_000010.11:g.103617228G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg297Gln	rs143819462	missense variant	-	NC_000010.11:g.103617227C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys298Asn	rs1470631641	missense variant	-	NC_000010.11:g.103617223C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu300Val	rs769369053	missense variant	-	NC_000010.11:g.103617219G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu300Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103617219G>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Glu301Lys	rs577209053	missense variant	-	NC_000010.11:g.103617216C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu301Asp	rs199626166	missense variant	-	NC_000010.11:g.103617214T>G	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly302Ala	rs1424761157	missense variant	-	NC_000010.11:g.103617212C>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly302Ser	rs1204892775	missense variant	-	NC_000010.11:g.103617213C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Trp303Arg	rs1188604535	missense variant	-	NC_000010.11:g.103617210A>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr305Cys	rs1187868099	missense variant	-	NC_000010.11:g.103617203T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Tyr305His	rs1485117246	missense variant	-	NC_000010.11:g.103617204A>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala315Val	rs984514262	missense variant	-	NC_000010.11:g.103613167G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser318Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103613158G>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Leu320Val	rs138730731	missense variant	-	NC_000010.11:g.103613153G>C	ESP,TOPMed
SH3PXD2A	Q5TCZ1	p.Arg330Trp	rs746032143	missense variant	-	NC_000010.11:g.103613123G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg330Gln	rs201054626	missense variant	-	NC_000010.11:g.103613122C>T	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys331Asn	COSM4871316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103613118C>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Lys332Asn	rs1184644032	missense variant	-	NC_000010.11:g.103613115C>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly336Ser	rs373027762	missense variant	-	NC_000010.11:g.103613105C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile340Val	rs542587373	missense variant	-	NC_000010.11:g.103613093T>C	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile341Thr	rs758325237	missense variant	-	NC_000010.11:g.103613089A>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile344Val	rs1254969661	missense variant	-	NC_000010.11:g.103613081T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Met345Thr	rs754545170	missense variant	-	NC_000010.11:g.103613077A>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile347Met	rs1357018704	missense variant	-	NC_000010.11:g.103613070G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu350Val	rs1290516560	missense variant	-	NC_000010.11:g.103613063G>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala355Gly	rs150202723	missense variant	-	NC_000010.11:g.103613047G>C	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala355Val	rs150202723	missense variant	-	NC_000010.11:g.103613047G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly357Arg	rs1162455322	missense variant	-	NC_000010.11:g.103613042C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Asp358Glu	rs1373173349	missense variant	-	NC_000010.11:g.103613037G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Lys359Glu	rs1304308845	missense variant	-	NC_000010.11:g.103613036T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu360Lys	rs763304996	missense variant	-	NC_000010.11:g.103613033C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu360Asp	rs1364114968	missense variant	-	NC_000010.11:g.103613031T>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu360Gln	rs763304996	missense variant	-	NC_000010.11:g.103613033C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr361Pro	rs776079197	missense variant	-	NC_000010.11:g.103613030T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr361Ala	rs776079197	missense variant	-	NC_000010.11:g.103613030T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro362Ser	rs1365585866	missense variant	-	NC_000010.11:g.103613027G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Pro362Leu	rs759644147	missense variant	-	NC_000010.11:g.103613026G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu365Lys	rs141288204	missense variant	-	NC_000010.11:g.103613018C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu367Lys	rs747972923	missense variant	-	NC_000010.11:g.103613012C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu370Ala	rs1258602227	missense variant	-	NC_000010.11:g.103613002T>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Ile373Thr	rs1312269041	missense variant	-	NC_000010.11:g.103612993A>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala374Thr	rs779013852	missense variant	-	NC_000010.11:g.103612991C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys376Asn	rs1275653645	missense variant	-	NC_000010.11:g.103612983C>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Lys376Glu	rs1214859105	missense variant	-	NC_000010.11:g.103612985T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Leu380Val	rs754494273	missense variant	-	NC_000010.11:g.103612973G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile382Leu	rs932594485	missense variant	-	NC_000010.11:g.103612967T>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Leu383Phe	rs1315959324	missense variant	-	NC_000010.11:g.103612964G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser387Thr	rs779841429	missense variant	-	NC_000010.11:g.103612952A>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn388Ser	rs764308411	missense variant	-	NC_000010.11:g.103612948T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn388His	rs755901745	missense variant	-	NC_000010.11:g.103612949T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn388Ile	rs764308411	missense variant	-	NC_000010.11:g.103612948T>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser390Gly	rs1430150659	missense variant	-	NC_000010.11:g.103612943T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser390Ile	rs1009485	missense variant	-	NC_000010.11:g.103612942C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala391Val	rs117568095	missense variant	-	NC_000010.11:g.103612939G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val392Met	rs553552960	missense variant	-	NC_000010.11:g.103612937C>T	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly393Asp	rs1448548703	missense variant	-	NC_000010.11:g.103612933C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val394Ile	rs771136503	missense variant	-	NC_000010.11:g.103612931C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro395Thr	rs760741994	missense variant	-	NC_000010.11:g.103612928G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp396Tyr	rs1264530315	missense variant	-	NC_000010.11:g.103612925C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Thr398Ile	rs574187550	missense variant	-	NC_000010.11:g.103612918G>A	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val399Asp	rs1034382171	missense variant	-	NC_000010.11:g.103612915A>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val399Gly	rs1034382171	missense variant	-	NC_000010.11:g.103612915A>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val399Ile	rs1321974064	missense variant	-	NC_000010.11:g.103612916C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu402Pro	rs1355863959	missense variant	-	NC_000010.11:g.103612906A>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Ala403Val	rs748002576	missense variant	-	NC_000010.11:g.103612903G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln404Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103612900T>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Gly405Val	rs919966470	missense variant	-	NC_000010.11:g.103612897C>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly405Asp	rs919966470	missense variant	-	NC_000010.11:g.103612897C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly405Arg	rs1445364525	missense variant	-	NC_000010.11:g.103612898C>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Ser406Cys	COSM3806380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103612894G>C	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Pro407Ala	rs778960704	missense variant	-	NC_000010.11:g.103612892G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val409Met	rs1234327195	missense variant	-	NC_000010.11:g.103612886C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Arg411Ser	rs748805333	missense variant	-	NC_000010.11:g.103612878C>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg411Gly	rs768774482	missense variant	-	NC_000010.11:g.103612880T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile412Val	rs779355515	missense variant	-	NC_000010.11:g.103612877T>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala413Ser	rs755667357	missense variant	-	NC_000010.11:g.103612874C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro414Leu	rs749994408	missense variant	-	NC_000010.11:g.103612870G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg416Trp	rs780930094	missense variant	-	NC_000010.11:g.103612865G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg416Gln	rs758662098	missense variant	-	NC_000010.11:g.103612864C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg416Leu	rs758662098	missense variant	-	NC_000010.11:g.103612864C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln418His	rs753107754	missense variant	-	NC_000010.11:g.103612857C>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser420Cys	rs760101816	missense variant	-	NC_000010.11:g.103612853T>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser420Arg	rs1360619411	missense variant	-	NC_000010.11:g.103611629G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser421Tyr	rs779180648	missense variant	-	NC_000010.11:g.103611627G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser421Cys	rs779180648	missense variant	-	NC_000010.11:g.103611627G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro422Leu	rs755348691	missense variant	-	NC_000010.11:g.103611624G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu424Arg	rs202011870	missense variant	-	NC_000010.11:g.103611618A>C	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg425Trp	rs756112682	missense variant	-	NC_000010.11:g.103611616G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg425Gln	rs747631325	missense variant	-	NC_000010.11:g.103611615C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro430Thr	rs762031781	missense variant	-	NC_000010.11:g.103611601G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro430Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103611601G>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Arg431His	rs201296459	missense variant	-	NC_000010.11:g.103611597C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg431Cys	rs370598379	missense variant	-	NC_000010.11:g.103611598G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg432Gly	rs1391573822	missense variant	-	NC_000010.11:g.103611595T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu433Gln	rs142706485	missense variant	-	NC_000010.11:g.103611592C>G	ESP,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu433Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.103611592C>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ser434Tyr	rs1159748911	missense variant	-	NC_000010.11:g.103611588G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Gln439His	rs1477908828	missense variant	-	NC_000010.11:g.103605909T>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu440Met	rs1242858651	missense variant	-	NC_000010.11:g.103605908G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Lys442Asn	rs201074203	missense variant	-	NC_000010.11:g.103605900C>A	1000Genomes,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val449Ile	rs1445350044	missense variant	-	NC_000010.11:g.103605881C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu450Val	rs767579345	missense variant	-	NC_000010.11:g.103605877T>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu452Gln	rs757439029	missense variant	-	NC_000010.11:g.103605872C>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr454Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103605865T>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Thr455Ile	COSM3367880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103605862G>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Glu458Asp	rs148490577	missense variant	-	NC_000010.11:g.103605852T>A	ESP,TOPMed
SH3PXD2A	Q5TCZ1	p.Glu458Ter	COSM6128099	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103605854C>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Glu458Lys	rs764452321	missense variant	-	NC_000010.11:g.103605854C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser461Leu	rs762820471	missense variant	-	NC_000010.11:g.103605844G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser464Ala	rs908565357	missense variant	-	NC_000010.11:g.103605836A>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp465Asn	rs866309156	missense variant	-	NC_000010.11:g.103605833C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp465Val	rs1336872292	missense variant	-	NC_000010.11:g.103605832T>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly466Ala	rs776445357	missense variant	-	NC_000010.11:g.103605829C>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile467Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103605827T>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ser468Asn	rs1467494100	missense variant	-	NC_000010.11:g.103605823C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Arg470Gln	rs374221356	missense variant	-	NC_000010.11:g.103605817C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg470Pro	rs374221356	missense variant	-	NC_000010.11:g.103605817C>G	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg470Trp	rs1213617503	missense variant	-	NC_000010.11:g.103605818G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Val477Phe	rs750376276	missense variant	-	NC_000010.11:g.103603789C>A	ExAC
SH3PXD2A	Q5TCZ1	p.Val477Gly	rs766966921	missense variant	-	NC_000010.11:g.103603788A>C	ExAC
SH3PXD2A	Q5TCZ1	p.Tyr487Asn	rs1374642845	missense variant	-	NC_000010.11:g.103603759A>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Val488Met	rs1036074765	missense variant	-	NC_000010.11:g.103603756C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val488Leu	rs1036074765	missense variant	-	NC_000010.11:g.103603756C>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly491Asp	rs941171217	missense variant	-	NC_000010.11:g.103603746C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Gly491Ser	rs1366771506	missense variant	-	NC_000010.11:g.103603747C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu492Lys	rs199737235	missense variant	-	NC_000010.11:g.103603744C>T	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys493Glu	rs777205961	missense variant	-	NC_000010.11:g.103603741T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Trp496Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603730C>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Trp496Cys	rs771429951	missense variant	-	NC_000010.11:g.103603730C>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala499Thr	rs747458165	missense variant	-	NC_000010.11:g.103603723C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr501Phe	rs570018935	missense variant	-	NC_000010.11:g.103603716T>A	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile502Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603713A>G	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Asp503Asn	rs779173732	missense variant	-	NC_000010.11:g.103603711C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys504Thr	rs1375127496	missense variant	-	NC_000010.11:g.103603707T>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg505Cys	rs749103006	missense variant	-	NC_000010.11:g.103603705G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg505Ser	rs749103006	missense variant	-	NC_000010.11:g.103603705G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg505His	rs779769042	missense variant	-	NC_000010.11:g.103603704C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg505Leu	rs779769042	missense variant	-	NC_000010.11:g.103603704C>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn509Lys	rs755927002	missense variant	-	NC_000010.11:g.103603691G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg512Cys	rs750321416	missense variant	-	NC_000010.11:g.103603684G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg512His	rs767484015	missense variant	-	NC_000010.11:g.103603683C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg513His	rs763801052	missense variant	-	NC_000010.11:g.103603680C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg513Cys	rs751092364	missense variant	-	NC_000010.11:g.103603681G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser515Gly	rs775293260	missense variant	-	NC_000010.11:g.103603675T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr516Met	rs761148021	missense variant	-	NC_000010.11:g.103603671G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr518Ile	rs931913063	missense variant	-	NC_000010.11:g.103603665G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Thr518Asn	rs931913063	missense variant	-	NC_000010.11:g.103603665G>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Arg519Gly	rs1201268825	missense variant	-	NC_000010.11:g.103603663G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg519Gln	rs1431236944	missense variant	-	NC_000010.11:g.103603662C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg519Trp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603663G>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Arg519Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603662C>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Val522Leu	rs1266161823	missense variant	-	NC_000010.11:g.103603654C>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val522Met	rs1266161823	missense variant	-	NC_000010.11:g.103603654C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro524Leu	rs773819318	missense variant	-	NC_000010.11:g.103603647G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro527Ala	rs1265736101	missense variant	-	NC_000010.11:g.103603639G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Pro527Leu	rs917334009	missense variant	-	NC_000010.11:g.103603638G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Ser529AlaPheSerTerUnkUnk	COSM270136	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103603634G>-	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Lys532Arg	rs774359387	missense variant	-	NC_000010.11:g.103603623T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys532Met	rs774359387	missense variant	-	NC_000010.11:g.103603623T>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu535Lys	rs1300843206	missense variant	-	NC_000010.11:g.103603615C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu535Asp	rs1383030240	missense variant	-	NC_000010.11:g.103603613C>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly537Asp	rs956097860	missense variant	-	NC_000010.11:g.103603608C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Gly537Ser	rs1364147478	missense variant	-	NC_000010.11:g.103603609C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Pro538Arg	rs1318568970	missense variant	-	NC_000010.11:g.103603605G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Thr539Met	rs768783739	missense variant	-	NC_000010.11:g.103603602G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr539Ala	rs975966157	missense variant	-	NC_000010.11:g.103603603T>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr539Pro	rs975966157	missense variant	-	NC_000010.11:g.103603603T>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala541Thr	rs780286964	missense variant	-	NC_000010.11:g.103603597C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser542Arg	rs1193408799	missense variant	-	NC_000010.11:g.103603594T>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser544Asn	rs965874831	missense variant	-	NC_000010.11:g.103603587C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp546His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603582C>G	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Asp546Asn	rs755873630	missense variant	-	NC_000010.11:g.103603582C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro548Leu	rs367962270	missense variant	-	NC_000010.11:g.103603575G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg549Gln	rs777092853	missense variant	-	NC_000010.11:g.103603572C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg549Trp	rs751523064	missense variant	-	NC_000010.11:g.103603573G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys550Thr	rs376475072	missense variant	-	NC_000010.11:g.103603569T>G	ESP,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu551Phe	rs752354197	missense variant	-	NC_000010.11:g.103603567G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr553His	rs765018486	missense variant	-	NC_000010.11:g.103603561A>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr553Phe	rs761098740	missense variant	-	NC_000010.11:g.103603560T>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr553Cys	rs761098740	missense variant	-	NC_000010.11:g.103603560T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu557Asp	rs750875523	missense variant	-	NC_000010.11:g.103603547C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu557Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603549C>G	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Asp559Asn	rs1463359085	missense variant	-	NC_000010.11:g.103603543C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp559Glu	rs373020614	missense variant	-	NC_000010.11:g.103603541G>C	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile560Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603539A>G	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Pro561Ser	COSM3433884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103603537G>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Ala562Val	rs1286877734	missense variant	-	NC_000010.11:g.103603533G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Ala562Thr	rs1479477578	missense variant	-	NC_000010.11:g.103603534C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly564Ser	rs775667785	missense variant	-	NC_000010.11:g.103603528C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Phe565Ser	rs1354330557	missense variant	-	NC_000010.11:g.103603524A>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Asp566Glu	rs1209359707	missense variant	-	NC_000010.11:g.103603520G>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Ser567Ala	rs1292750103	missense variant	-	NC_000010.11:g.103603519A>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Leu571Val	rs770063317	missense variant	-	NC_000010.11:g.103603507G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser572Gly	rs140387928	missense variant	-	NC_000010.11:g.103603504T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser572Cys	rs140387928	missense variant	-	NC_000010.11:g.103603504T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser572Arg	rs746869156	missense variant	-	NC_000010.11:g.103603502G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu573Lys	rs777794207	missense variant	-	NC_000010.11:g.103603501C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val576Leu	rs377100440	missense variant	-	NC_000010.11:g.103603492C>G	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val576Met	rs377100440	missense variant	-	NC_000010.11:g.103603492C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu583Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603469C>G	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Glu583Lys	rs1368539136	missense variant	-	NC_000010.11:g.103603471C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg584Trp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603468T>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Arg584Lys	rs941256865	missense variant	-	NC_000010.11:g.103603467C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg585Trp	rs372858484	missense variant	-	NC_000010.11:g.103603465G>A	ESP,ExAC
SH3PXD2A	Q5TCZ1	p.Arg585Gln	rs764711625	missense variant	-	NC_000010.11:g.103603464C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala587Pro	rs763008226	missense variant	-	NC_000010.11:g.103603459C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln588Lys	rs1427424381	missense variant	-	NC_000010.11:g.103603456G>T	TOPMed
SH3PXD2A	Q5TCZ1	p.His590Pro	rs775618751	missense variant	-	NC_000010.11:g.103603449T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg591Gln	rs759699398	missense variant	-	NC_000010.11:g.103603446C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg591Trp	rs1044167049	missense variant	-	NC_000010.11:g.103603447G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg591Leu	rs759699398	missense variant	-	NC_000010.11:g.103603446C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser593Leu	rs776936856	missense variant	-	NC_000010.11:g.103603440G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro594Leu	rs143941309	missense variant	-	NC_000010.11:g.103603437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser596Phe	rs1244095931	missense variant	-	NC_000010.11:g.103603431G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Arg600Gln	rs747656273	missense variant	-	NC_000010.11:g.103603419C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg600Trp	rs772194389	missense variant	-	NC_000010.11:g.103603420G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala601Ser	rs778498635	missense variant	-	NC_000010.11:g.103603417C>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg602His	rs748853817	missense variant	-	NC_000010.11:g.103603413C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg602Cys	rs140108315	missense variant	-	NC_000010.11:g.103603414G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys604Arg	rs1253928509	missense variant	-	NC_000010.11:g.103603407T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Gly606Asp	rs752019733	missense variant	-	NC_000010.11:g.103603401C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu607Lys	rs1351190759	missense variant	-	NC_000010.11:g.103603399C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu610Lys	rs764508570	missense variant	-	NC_000010.11:g.103603390C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu615Lys	rs1159617170	missense variant	-	NC_000010.11:g.103603375C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr620Phe	rs1181865196	missense variant	-	NC_000010.11:g.103603359T>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu621Lys	rs765256036	missense variant	-	NC_000010.11:g.103603357C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg626Gln	rs759640059	missense variant	-	NC_000010.11:g.103603341C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro627Ser	COSM914432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103603339G>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Pro627Leu	rs1219718561	missense variant	-	NC_000010.11:g.103603338G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu630Gln	rs776683814	missense variant	-	NC_000010.11:g.103603330C>G	ExAC
SH3PXD2A	Q5TCZ1	p.Asp631Ala	rs1405548785	missense variant	-	NC_000010.11:g.103603326T>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu633Val	rs1040319628	missense variant	-	NC_000010.11:g.103603321G>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg636Ile	rs1285096168	missense variant	-	NC_000010.11:g.103603311C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser639Phe	rs141568792	missense variant	-	NC_000010.11:g.103603302G>A	ESP,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly640Arg	rs376504935	missense variant	-	NC_000010.11:g.103603300C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser642Asn	rs773124770	missense variant	-	NC_000010.11:g.103603293C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp643Asn	rs145692705	missense variant	-	NC_000010.11:g.103603291C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser644Thr	rs201710367	missense variant	-	NC_000010.11:g.103603288A>T	1000Genomes,ExAC
SH3PXD2A	Q5TCZ1	p.Ser647Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603278C>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ser649Leu	rs748881031	missense variant	-	NC_000010.11:g.103603272G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser649Trp	rs748881031	missense variant	-	NC_000010.11:g.103603272G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser649Pro	rs530029154	missense variant	-	NC_000010.11:g.103603273A>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser649Ter	rs748881031	stop gained	-	NC_000010.11:g.103603272G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu650Pro	rs1159095161	missense variant	-	NC_000010.11:g.103603269A>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Asn656Tyr	rs1242521341	missense variant	-	NC_000010.11:g.103603252T>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys659Thr	rs1477794207	missense variant	-	NC_000010.11:g.103603242T>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Lys659AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.103603244G>-	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Lys659GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.103603243_103603244insG	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Lys659Arg	rs1477794207	missense variant	-	NC_000010.11:g.103603242T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly661Ser	rs373377492	missense variant	-	NC_000010.11:g.103603237C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly661Val	rs753165090	missense variant	-	NC_000010.11:g.103603236C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro663Leu	rs765769948	missense variant	-	NC_000010.11:g.103603230G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro663Arg	rs765769948	missense variant	-	NC_000010.11:g.103603230G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser665Leu	rs1313704536	missense variant	-	NC_000010.11:g.103603224G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser666Pro	rs754002774	missense variant	-	NC_000010.11:g.103603222A>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu669Pro	rs766501746	missense variant	-	NC_000010.11:g.103603212A>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu671Phe	rs1419729334	missense variant	-	NC_000010.11:g.103603207G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu674Gly	rs199610107	missense variant	-	NC_000010.11:g.103603197T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu674Ala	rs199610107	missense variant	-	NC_000010.11:g.103603197T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn676Thr	rs773318680	missense variant	-	NC_000010.11:g.103603191T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly682Glu	rs1320473470	missense variant	-	NC_000010.11:g.103603173C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys683Thr	rs767370392	missense variant	-	NC_000010.11:g.103603170T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn684Thr	rs761742438	missense variant	-	NC_000010.11:g.103603167T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.His685Gln	rs1414263919	missense variant	-	NC_000010.11:g.103603163G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.His685Tyr	rs774410030	missense variant	-	NC_000010.11:g.103603165G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser686Phe	rs768772475	missense variant	-	NC_000010.11:g.103603161G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser687Leu	rs1314818700	missense variant	-	NC_000010.11:g.103603158G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Phe690Leu	rs1247533067	missense variant	-	NC_000010.11:g.103603148A>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser691Phe	rs368518233	missense variant	-	NC_000010.11:g.103603146G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser692Ala	rs1484164452	missense variant	-	NC_000010.11:g.103603144A>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser692Leu	rs1248707588	missense variant	-	NC_000010.11:g.103603143G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser692Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.103603143G>C	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ile694Thr	rs372307133	missense variant	-	NC_000010.11:g.103603137A>G	ESP
SH3PXD2A	Q5TCZ1	p.Ile694Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603137A>C	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ile694Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603138T>C	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ile696Val	rs780857190	missense variant	-	NC_000010.11:g.103603132T>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Cys700Tyr	rs748558870	missense variant	-	NC_000010.11:g.103603119C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Cys701Phe	rs779374922	missense variant	-	NC_000010.11:g.103603116C>A	ExAC
SH3PXD2A	Q5TCZ1	p.Ser702Cys	rs755571944	missense variant	-	NC_000010.11:g.103603113G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser702Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603113G>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ser703Phe	rs1362835722	missense variant	-	NC_000010.11:g.103603110G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Ser704Phe	rs754305451	missense variant	-	NC_000010.11:g.103603107G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser704Cys	rs754305451	missense variant	-	NC_000010.11:g.103603107G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser705Phe	rs1381889407	missense variant	-	NC_000010.11:g.103603104G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser705Tyr	rs1381889407	missense variant	-	NC_000010.11:g.103603104G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser706Ala	rs1301618974	missense variant	-	NC_000010.11:g.103603102A>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser708Phe	rs368378897	missense variant	-	NC_000010.11:g.103603095G>A	ESP,TOPMed
SH3PXD2A	Q5TCZ1	p.Ser710Pro	rs780122955	missense variant	-	NC_000010.11:g.103603090A>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr714Ile	rs750632370	missense variant	-	NC_000010.11:g.103603077G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser715Arg	rs761689383	missense variant	-	NC_000010.11:g.103603073A>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp717Asn	rs142806486	missense variant	-	NC_000010.11:g.103603069C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro720Ser	rs775317115	missense variant	-	NC_000010.11:g.103603060G>A	ExAC
SH3PXD2A	Q5TCZ1	p.Arg721Pro	rs776241188	missense variant	-	NC_000010.11:g.103603056C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg721Leu	rs776241188	missense variant	-	NC_000010.11:g.103603056C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg721His	rs776241188	missense variant	-	NC_000010.11:g.103603056C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg721Cys	rs769310841	missense variant	-	NC_000010.11:g.103603057G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser724Leu	rs748503679	missense variant	-	NC_000010.11:g.103603047G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser724Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103603048A>G	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Asp725Asn	COSM3433883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103603045C>T	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Ala726Thr	rs371681573	missense variant	-	NC_000010.11:g.103603042C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly727Asp	rs1319459698	missense variant	-	NC_000010.11:g.103603038C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg729His	rs756197834	missense variant	-	NC_000010.11:g.103603032C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg729Cys	rs74788555	missense variant	-	NC_000010.11:g.103603033G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly730Cys	COSM6128101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103603030C>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Gly730Ser	rs781560745	missense variant	-	NC_000010.11:g.103603030C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly730Asp	rs757488196	missense variant	-	NC_000010.11:g.103603029C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr731Ile	rs987762902	missense variant	-	NC_000010.11:g.103603026G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Pro732His	rs751847787	missense variant	-	NC_000010.11:g.103603023G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys733Asn	rs762690039	missense variant	-	NC_000010.11:g.103603019C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys733Asn	rs762690039	missense variant	-	NC_000010.11:g.103603019C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys733Gln	rs763904336	missense variant	-	NC_000010.11:g.103603021T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp739Asn	rs1375558676	missense variant	-	NC_000010.11:g.103603003C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp739Tyr	rs1375558676	missense variant	-	NC_000010.11:g.103603003C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp739Ala	rs759030837	missense variant	-	NC_000010.11:g.103603002T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala740Ser	rs1267594370	missense variant	-	NC_000010.11:g.103603000C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala742Val	rs765874609	missense variant	-	NC_000010.11:g.103602993G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn743Lys	rs200036703	missense variant	-	NC_000010.11:g.103602989G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala744Thr	rs772872849	missense variant	-	NC_000010.11:g.103602988C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly745Arg	rs1409401302	missense variant	-	NC_000010.11:g.103602985C>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Thr747Ile	rs150357234	missense variant	-	NC_000010.11:g.103602978G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser748Thr	rs776052876	missense variant	-	NC_000010.11:g.103602976A>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Cys749Tyr	rs370188836	missense variant	-	NC_000010.11:g.103602972C>T	ESP,ExAC,TOPMed
SH3PXD2A	Q5TCZ1	p.Pro750Thr	rs746382788	missense variant	-	NC_000010.11:g.103602970G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro750Ala	rs746382788	missense variant	-	NC_000010.11:g.103602970G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg751Gln	rs537290745	missense variant	-	NC_000010.11:g.103602966C>T	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg751Pro	rs537290745	missense variant	-	NC_000010.11:g.103602966C>G	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala752Gly	rs937413307	missense variant	-	NC_000010.11:g.103602963G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala752Asp	rs937413307	missense variant	-	NC_000010.11:g.103602963G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala752Thr	rs200758401	missense variant	-	NC_000010.11:g.103602964C>T	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser755Leu	rs758192955	missense variant	-	NC_000010.11:g.103602954G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser755Trp	rs758192955	missense variant	-	NC_000010.11:g.103602954G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val756Ile	rs1456502400	missense variant	-	NC_000010.11:g.103602952C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg757Trp	rs368491495	missense variant	-	NC_000010.11:g.103602949G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg757Gln	rs140391413	missense variant	-	NC_000010.11:g.103602948C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro760Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602940G>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Phe761Leu	rs1431043329	missense variant	-	NC_000010.11:g.103602935G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu762Val	rs1405737727	missense variant	-	NC_000010.11:g.103602934G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg764Ter	rs765825254	stop gained	-	NC_000010.11:g.103602928G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg764Gln	rs371640427	missense variant	-	NC_000010.11:g.103602927C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala765Gly	rs151231944	missense variant	-	NC_000010.11:g.103602924G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser767Leu	rs767134244	missense variant	-	NC_000010.11:g.103602918G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln770Glu	rs751083934	missense variant	-	NC_000010.11:g.103602910G>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu771Ala	rs1257007198	missense variant	-	NC_000010.11:g.103602906T>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp774Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602897T>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ile775Val	rs1233915900	missense variant	-	NC_000010.11:g.103602895T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Ser776Arg	rs1235921376	missense variant	-	NC_000010.11:g.103602892T>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu778Ser	rs1310623410	missense variant	-	NC_000010.11:g.103602885A>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg779Gln	rs775652634	missense variant	-	NC_000010.11:g.103602882C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg779Leu	rs775652634	missense variant	-	NC_000010.11:g.103602882C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg779Trp	rs866660950	missense variant	-	NC_000010.11:g.103602883G>A	-
SH3PXD2A	Q5TCZ1	p.Arg780Leu	rs746331786	missense variant	-	NC_000010.11:g.103602879C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg780Cys	rs770297794	missense variant	-	NC_000010.11:g.103602880G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg780His	rs746331786	missense variant	-	NC_000010.11:g.103602879C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln781His	rs1015145135	missense variant	-	NC_000010.11:g.103602875C>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro784Ser	rs144157162	missense variant	-	NC_000010.11:g.103602868G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr785Ile	rs1043570658	missense variant	-	NC_000010.11:g.103602864G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln787His	rs140520112	missense variant	-	NC_000010.11:g.103602857C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg789His	rs748404899	missense variant	-	NC_000010.11:g.103602852C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg789Cys	rs200938753	missense variant	-	NC_000010.11:g.103602853G>A	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg789Leu	rs748404899	missense variant	-	NC_000010.11:g.103602852C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly790Val	rs549957850	missense variant	-	NC_000010.11:g.103602849C>A	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly790Glu	rs549957850	missense variant	-	NC_000010.11:g.103602849C>T	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly791Glu	rs531825547	missense variant	-	NC_000010.11:g.103602846C>T	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu792His	rs370445275	missense variant	-	NC_000010.11:g.103602843A>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu792Val	rs766343336	missense variant	-	NC_000010.11:g.103602844G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu792Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602844G>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Gly794Val	rs767058255	missense variant	-	NC_000010.11:g.103602837C>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser795Phe	rs199845605	missense variant	-	NC_000010.11:g.103602834G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys796Asn	rs751249053	missense variant	-	NC_000010.11:g.103602830C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys796Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602831T>C	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ser797Gly	rs147580812	missense variant	-	NC_000010.11:g.103602829T>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu798Asp	COSM914430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602824C>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Glu798Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602826C>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Asp799Asn	rs760021106	missense variant	-	NC_000010.11:g.103602823C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser800Pro	rs765045700	missense variant	-	NC_000010.11:g.103602820A>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser800Leu	rs564423308	missense variant	-	NC_000010.11:g.103602819G>A	1000Genomes,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro803Thr	rs1252421492	missense variant	-	NC_000010.11:g.103602811G>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro804Leu	rs200869697	missense variant	-	NC_000010.11:g.103602807G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln805Ter	rs772204272	stop gained	-	NC_000010.11:g.103602805G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln805Lys	rs772204272	missense variant	-	NC_000010.11:g.103602805G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr806Met	rs1167375308	missense variant	-	NC_000010.11:g.103602801G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr806Ser	rs1168220305	missense variant	-	NC_000010.11:g.103602802T>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu809Lys	rs145150116	missense variant	-	NC_000010.11:g.103602793C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala810Ser	rs368830374	missense variant	-	NC_000010.11:g.103602790C>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro811Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602787G>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ser812Gly	rs1325420705	missense variant	-	NC_000010.11:g.103602784T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu813Gln	rs1257317325	missense variant	-	NC_000010.11:g.103602781C>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly814Glu	rs750389881	missense variant	-	NC_000010.11:g.103602777C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly814Arg	rs74816343	missense variant	-	NC_000010.11:g.103602778C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser818Thr	rs1357216583	missense variant	-	NC_000010.11:g.103602765C>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser820Cys	rs751143465	missense variant	-	NC_000010.11:g.103602759G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp821Asn	rs1288697872	missense variant	-	NC_000010.11:g.103602757C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu822Phe	rs1246273846	missense variant	-	NC_000010.11:g.103602754G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Thr824Pro	rs754318200	missense variant	-	NC_000010.11:g.103602748T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu825Pro	rs766851049	missense variant	-	NC_000010.11:g.103602744A>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala827Thr	COSM683467	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602739C>T	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Ala827Asp	rs761026913	missense variant	-	NC_000010.11:g.103602738G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro831Gln	rs773787673	missense variant	-	NC_000010.11:g.103602726G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Cys832Ser	rs1456796388	missense variant	-	NC_000010.11:g.103602724A>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Cys832Tyr	rs772003670	missense variant	-	NC_000010.11:g.103602723C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys835Asn	COSM3806379	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602713C>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Glu837Asp	COSM683468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602707T>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Glu839Gln	rs1183255272	missense variant	-	NC_000010.11:g.103602703C>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu839Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.103602703C>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Gly840Arg	rs1473782576	missense variant	-	NC_000010.11:g.103602700C>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly840Ala	rs1249869892	missense variant	-	NC_000010.11:g.103602699C>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Pro841Leu	rs370213162	missense variant	-	NC_000010.11:g.103602696G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr843Ala	rs774534870	missense variant	-	NC_000010.11:g.103602691T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser844Leu	rs200823844	missense variant	-	NC_000010.11:g.103602687G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Met846Leu	rs1334020584	missense variant	-	NC_000010.11:g.103602682T>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Met846Val	rs1334020584	missense variant	-	NC_000010.11:g.103602682T>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr847Pro	rs1268697641	missense variant	-	NC_000010.11:g.103602679T>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Cys848Trp	rs1383589003	missense variant	-	NC_000010.11:g.103602674G>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Ser849Thr	COSM6064753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602672C>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Ser849Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602672C>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ala850Thr	rs764554398	missense variant	-	NC_000010.11:g.103602670C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala850Ser	rs764554398	missense variant	-	NC_000010.11:g.103602670C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr851Cys	rs781233284	missense variant	-	NC_000010.11:g.103602666T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys853Asn	rs756702640	missense variant	-	NC_000010.11:g.103602659C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp856Tyr	rs1439522201	missense variant	-	NC_000010.11:g.103602652C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp856Ala	rs375509622	missense variant	-	NC_000010.11:g.103602651T>G	ESP,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser857Trp	rs998693437	missense variant	-	NC_000010.11:g.103602648G>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu858Lys	rs777567669	missense variant	-	NC_000010.11:g.103602646C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile859Val	rs1259530747	missense variant	-	NC_000010.11:g.103602643T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Ala863Glu	rs750862901	missense variant	-	NC_000010.11:g.103602630G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala863Val	rs750862901	missense variant	-	NC_000010.11:g.103602630G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala863Pro	rs766798828	missense variant	-	NC_000010.11:g.103602631C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala863Thr	rs766798828	missense variant	-	NC_000010.11:g.103602631C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val865Met	rs144776136	missense variant	-	NC_000010.11:g.103602625C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val869Ala	rs763115087	missense variant	-	NC_000010.11:g.103602612A>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val869Met	rs1051725499	missense variant	-	NC_000010.11:g.103602613C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly876Arg	rs775722872	missense variant	-	NC_000010.11:g.103602592C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr879Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602582T>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Tyr879SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.103602582_103602583insG	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Tyr879His	rs769448356	missense variant	-	NC_000010.11:g.103602583A>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val880Met	rs371163946	missense variant	-	NC_000010.11:g.103602580C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Phe882Ile	rs1343975196	missense variant	-	NC_000010.11:g.103602574A>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly883Arg	rs1318030195	missense variant	-	NC_000010.11:g.103602571C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly883Glu	rs1415409676	missense variant	-	NC_000010.11:g.103602570C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu884Lys	rs776424440	missense variant	-	NC_000010.11:g.103602568C>T	ExAC
SH3PXD2A	Q5TCZ1	p.Leu885Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602564A>C	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ala889Thr	rs1020623940	missense variant	-	NC_000010.11:g.103602553C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro890Leu	rs777355965	missense variant	-	NC_000010.11:g.103602549G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser891Pro	rs1251641633	missense variant	-	NC_000010.11:g.103602547A>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr893Cys	rs893694799	missense variant	-	NC_000010.11:g.103602540T>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val895Leu	rs758001725	missense variant	-	NC_000010.11:g.103602535C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val895Met	rs758001725	missense variant	-	NC_000010.11:g.103602535C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val895Leu	rs758001725	missense variant	-	NC_000010.11:g.103602535C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp897Glu	rs1276057685	missense variant	-	NC_000010.11:g.103602527A>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp897Asn	rs778746354	missense variant	-	NC_000010.11:g.103602529C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu898Gly	rs1456864379	missense variant	-	NC_000010.11:g.103602525T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu898Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602526C>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Asn899Lys	rs1342229195	missense variant	-	NC_000010.11:g.103602521G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Asn899Ser	rs1233166415	missense variant	-	NC_000010.11:g.103602522T>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu900Lys	rs756410726	missense variant	-	NC_000010.11:g.103602520C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu900Gln	rs756410726	missense variant	-	NC_000010.11:g.103602520C>G	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro902Arg	rs750858104	missense variant	-	NC_000010.11:g.103602513G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp903His	rs540725379	missense variant	-	NC_000010.11:g.103602511C>G	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro904Arg	rs199832355	missense variant	-	NC_000010.11:g.103602507G>C	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro904Ser	rs1361331813	missense variant	-	NC_000010.11:g.103602508G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Gly906Asp	rs775670087	missense variant	-	NC_000010.11:g.103602501C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys907Glu	rs372246713	missense variant	-	NC_000010.11:g.103602499T>C	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp910Glu	rs1426824183	missense variant	-	NC_000010.11:g.103602488G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Pro913Ser	rs776423838	missense variant	-	NC_000010.11:g.103602481G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro913His	rs770642110	missense variant	-	NC_000010.11:g.103602480G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala914Ser	rs201439736	missense variant	-	NC_000010.11:g.103602478C>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala914Thr	rs201439736	missense variant	-	NC_000010.11:g.103602478C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys915Asn	rs907916733	missense variant	-	NC_000010.11:g.103602473C>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Lys915Asn	rs907916733	missense variant	-	NC_000010.11:g.103602473C>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Gly916Asp	COSM271963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602471C>T	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Gly916Ser	rs969758090	missense variant	-	NC_000010.11:g.103602472C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn919Lys	rs543627417	missense variant	-	NC_000010.11:g.103602461G>C	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn919Ser	COSM4011409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602462T>C	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Glu920Lys	rs371255618	missense variant	-	NC_000010.11:g.103602460C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu920Gln	rs371255618	missense variant	-	NC_000010.11:g.103602460C>G	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly921Val	rs1305961804	missense variant	-	NC_000010.11:g.103602456C>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly921Asp	rs1305961804	missense variant	-	NC_000010.11:g.103602456C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys922Asn	rs4917396	missense variant	-	NC_000010.11:g.103602452T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp924His	rs1291774298	missense variant	-	NC_000010.11:g.103602448C>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp924Tyr	rs1291774298	missense variant	-	NC_000010.11:g.103602448C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser925Ile	rs1414555899	missense variant	-	NC_000010.11:g.103602444C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ile929Thr	rs1337306228	missense variant	-	NC_000010.11:g.103602432A>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Ile929Met	rs368480262	missense variant	-	NC_000010.11:g.103602431G>C	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu930Lys	rs778304934	missense variant	-	NC_000010.11:g.103602430C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg931Gly	rs1354047753	missense variant	-	NC_000010.11:g.103602427T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg932His	rs752844276	missense variant	-	NC_000010.11:g.103602423C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val933Phe	rs201405675	missense variant	-	NC_000010.11:g.103602421C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val933Ile	rs201405675	missense variant	-	NC_000010.11:g.103602421C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln934Arg	rs1031587899	missense variant	-	NC_000010.11:g.103602417T>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu936Met	rs999203137	missense variant	-	NC_000010.11:g.103602412G>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val939Ile	rs773259897	missense variant	-	NC_000010.11:g.103602403C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn940Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602398G>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Gln941His	rs201840553	missense variant	-	NC_000010.11:g.103602395C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser942Arg	rs1223167738	missense variant	-	NC_000010.11:g.103602392G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala945Thr	rs773844696	missense variant	-	NC_000010.11:g.103602385C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala945Asp	rs1315978128	missense variant	-	NC_000010.11:g.103602384G>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Thr946Met	rs768074717	missense variant	-	NC_000010.11:g.103602381G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr946Lys	rs768074717	missense variant	-	NC_000010.11:g.103602381G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro947Leu	rs1290409624	missense variant	-	NC_000010.11:g.103602378G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Pro947Arg	rs1290409624	missense variant	-	NC_000010.11:g.103602378G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ile949Met	rs889168754	missense variant	-	NC_000010.11:g.103602371G>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Ile949Thr	rs1339935968	missense variant	-	NC_000010.11:g.103602372A>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Pro950Thr	rs779614766	missense variant	-	NC_000010.11:g.103602370G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro954Arg	rs747434163	missense variant	-	NC_000010.11:g.103602357G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly955Trp	rs138239379	missense variant	-	NC_000010.11:g.103602355C>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly955Arg	rs138239379	missense variant	-	NC_000010.11:g.103602355C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly956Ala	rs778997216	missense variant	-	NC_000010.11:g.103602351C>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly958Ser	rs142016930	missense variant	-	NC_000010.11:g.103602346C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly958Asp	rs1168718265	missense variant	-	NC_000010.11:g.103602345C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Gly958Cys	rs142016930	missense variant	-	NC_000010.11:g.103602346C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr960Ile	rs1192369048	missense variant	-	NC_000010.11:g.103602339G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser961Leu	rs766754098	missense variant	-	NC_000010.11:g.103602336G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly962Asp	rs1213660252	missense variant	-	NC_000010.11:g.103602333C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Thr963Ala	rs750309437	missense variant	-	NC_000010.11:g.103602331T>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro964Ala	rs1372844934	missense variant	-	NC_000010.11:g.103602328G>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Ala965Glu	rs767423459	missense variant	-	NC_000010.11:g.103602324G>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala965Val	rs767423459	missense variant	-	NC_000010.11:g.103602324G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Met968Leu	rs762420881	missense variant	-	NC_000010.11:g.103602316T>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg969Ser	COSM1345607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602311C>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Arg969Lys	rs775197757	missense variant	-	NC_000010.11:g.103602312C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly971Arg	rs1034023749	missense variant	-	NC_000010.11:g.103602307C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val972Leu	COSM6064754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602304C>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Arg973Trp	rs769506617	missense variant	-	NC_000010.11:g.103602301G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg973Gln	rs745528071	missense variant	-	NC_000010.11:g.103602300C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val975Gly	rs377387586	missense variant	-	NC_000010.11:g.103602294A>C	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val975Ala	rs377387586	missense variant	-	NC_000010.11:g.103602294A>G	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala976Ser	rs527994174	missense variant	-	NC_000010.11:g.103602292C>A	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala976Val	rs373805914	missense variant	-	NC_000010.11:g.103602291G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro979Thr	rs756338086	missense variant	-	NC_000010.11:g.103602283G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro979Leu	rs1203707949	missense variant	-	NC_000010.11:g.103602282G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Pro979Ser	rs756338086	missense variant	-	NC_000010.11:g.103602283G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser981Leu	rs1203701944	missense variant	-	NC_000010.11:g.103602276G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Phe983Leu	rs915654185	missense variant	-	NC_000010.11:g.103602269A>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Val984Ala	rs751492735	missense variant	-	NC_000010.11:g.103602267A>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val984Met	rs757043804	missense variant	-	NC_000010.11:g.103602268C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val984Leu	rs757043804	missense variant	-	NC_000010.11:g.103602268C>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser985Tyr	rs886507644	missense variant	-	NC_000010.11:g.103602264G>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Pro986Leu	rs763997405	missense variant	-	NC_000010.11:g.103602261G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro986Ser	rs1302705445	missense variant	-	NC_000010.11:g.103602262G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro988Ser	rs1196315274	missense variant	-	NC_000010.11:g.103602256G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Lys989Asn	rs1427730888	missense variant	-	NC_000010.11:g.103602251C>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Asp990Val	rs774799645	missense variant	-	NC_000010.11:g.103602249T>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn991Asp	rs938345700	missense variant	-	NC_000010.11:g.103602247T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Asn992Ile	rs764743915	missense variant	-	NC_000010.11:g.103602243T>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn992Tyr	rs924301774	missense variant	-	NC_000010.11:g.103602244T>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser994Pro	rs968999172	missense variant	-	NC_000010.11:g.103602238A>G	TOPMed
SH3PXD2A	Q5TCZ1	p.Ala996Thr	rs373175288	missense variant	-	NC_000010.11:g.103602232C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg998Gln	rs146203698	missense variant	-	NC_000010.11:g.103602225C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg998Trp	rs561745856	missense variant	-	NC_000010.11:g.103602226G>A	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg998Leu	rs146203698	missense variant	-	NC_000010.11:g.103602225C>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg999Lys	rs749805561	missense variant	-	NC_000010.11:g.103602222C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg999Ser	rs543566354	missense variant	-	NC_000010.11:g.103602221C>G	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1001Lys	rs781615764	missense variant	-	NC_000010.11:g.103602217C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1001Ter	rs781615764	stop gained	-	NC_000010.11:g.103602217C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1002Leu	rs1285159868	missense variant	-	NC_000010.11:g.103602213G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Thr1004Met	rs757063786	missense variant	-	NC_000010.11:g.103602207G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu1009Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602193G>A	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Arg1010Ter	COSM3433880	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103602190G>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Arg1010Gln	rs576268163	missense variant	-	NC_000010.11:g.103602189C>T	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly1011Arg	COSM1321559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602187C>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Gly1011Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602187C>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Val1012Ile	rs75922594	missense variant	-	NC_000010.11:g.103602184C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1013Gln	rs776241091	missense variant	-	NC_000010.11:g.103602180C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1013Leu	rs776241091	missense variant	-	NC_000010.11:g.103602180C>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1013Ter	rs1030401662	stop gained	-	NC_000010.11:g.103602181G>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1014Gln	rs766002032	missense variant	-	NC_000010.11:g.103602177C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1014Trp	rs1431104402	missense variant	-	NC_000010.11:g.103602178G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1016Tyr	rs1461878903	missense variant	-	NC_000010.11:g.103602171G>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1016Ala	rs762231638	missense variant	-	NC_000010.11:g.103602172A>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1017Thr	rs998038121	missense variant	-	NC_000010.11:g.103602169A>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1017Pro	rs998038121	missense variant	-	NC_000010.11:g.103602169A>G	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1019Arg	rs769077940	missense variant	-	NC_000010.11:g.103602161G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr1020Ser	rs776180564	missense variant	-	NC_000010.11:g.103602159G>C	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Thr1020Ile	rs776180564	missense variant	-	NC_000010.11:g.103602159G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1021Val	rs746003902	missense variant	-	NC_000010.11:g.103602156G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1021Gly	rs746003902	missense variant	-	NC_000010.11:g.103602156G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1022Gly	rs79061932	missense variant	-	NC_000010.11:g.103602154G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1022Cys	rs79061932	missense variant	-	NC_000010.11:g.103602154G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1022His	rs369836291	missense variant	-	NC_000010.11:g.103602153C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1024Thr	rs145059341	missense variant	-	NC_000010.11:g.103602148C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1026Thr	rs752596549	missense variant	-	NC_000010.11:g.103602142C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1026Val	rs778867319	missense variant	-	NC_000010.11:g.103602141G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1027Gly	rs1327560167	missense variant	-	NC_000010.11:g.103602138T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1027Lys	rs765916483	missense variant	-	NC_000010.11:g.103602139C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1028Val	rs1392063287	missense variant	-	NC_000010.11:g.103602135G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1031His	rs553818409	missense variant	-	NC_000010.11:g.103602126C>T	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1031Leu	rs553818409	missense variant	-	NC_000010.11:g.103602126C>A	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1031Cys	rs74661743	missense variant	-	NC_000010.11:g.103602127G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1033Val	rs142382313	missense variant	-	NC_000010.11:g.103602120G>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1033Ser	rs1362282270	missense variant	-	NC_000010.11:g.103602121C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1034Lys	rs371597796	missense variant	-	NC_000010.11:g.103602118C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1035Trp	rs760123155	missense variant	-	NC_000010.11:g.103602115G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1035Gln	rs3781365	missense variant	-	NC_000010.11:g.103602114C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1035Leu	rs3781365	missense variant	-	NC_000010.11:g.103602114C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1036Thr	rs148771539	missense variant	-	NC_000010.11:g.103602112C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1038Thr	rs994928529	missense variant	-	NC_000010.11:g.103602105C>G	gnomAD
SH3PXD2A	Q5TCZ1	p.Gln1039His	rs556209599	missense variant	-	NC_000010.11:g.103602101C>A	1000Genomes,ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly1040Val	rs1372585961	missense variant	-	NC_000010.11:g.103602099C>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Asp1042Asn	rs537959543	missense variant	-	NC_000010.11:g.103602094C>T	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1043Pro	rs374861488	missense variant	-	NC_000010.11:g.103602091A>G	ESP,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro1044Ser	rs1319313039	missense variant	-	NC_000010.11:g.103602088G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Pro1044Leu	rs747998608	missense variant	-	NC_000010.11:g.103602087G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu1045Val	rs778820299	missense variant	-	NC_000010.11:g.103602085G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Leu1045TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.103602085G>-	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Pro1047Arg	rs1397025949	missense variant	-	NC_000010.11:g.103602078G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1048Val	rs1248576447	missense variant	-	NC_000010.11:g.103602075G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1048Thr	rs754844848	missense variant	-	NC_000010.11:g.103602076C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln1049His	COSM6064755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103602071C>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Gln1049Glu	rs779383403	missense variant	-	NC_000010.11:g.103602073G>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1050Cys	rs755681659	missense variant	-	NC_000010.11:g.103602070G>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1050His	rs368557851	missense variant	-	NC_000010.11:g.103602069C>T	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1050Leu	rs368557851	missense variant	-	NC_000010.11:g.103602069C>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn1051Ser	rs148790099	missense variant	-	NC_000010.11:g.103602066T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn1051Ile	rs148790099	missense variant	-	NC_000010.11:g.103602066T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro1054Arg	rs1232932928	missense variant	-	NC_000010.11:g.103602057G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Val1055Leu	rs375554787	missense variant	-	NC_000010.11:g.103602055C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val1055Met	rs375554787	missense variant	-	NC_000010.11:g.103602055C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Val1055Leu	rs375554787	missense variant	-	NC_000010.11:g.103602055C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1056Phe	rs770881149	missense variant	-	NC_000010.11:g.103602051G>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val1058Met	rs1343844629	missense variant	-	NC_000010.11:g.103602046C>T	gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1059His	rs749914163	missense variant	-	NC_000010.11:g.103602042C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Arg1059Cys	rs201065560	missense variant	-	NC_000010.11:g.103602043G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro1060His	rs772350449	missense variant	-	NC_000010.11:g.103602039G>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile1063Val	rs1390704543	missense variant	-	NC_000010.11:g.103602031T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1064Lys	rs774075815	missense variant	-	NC_000010.11:g.103602028C>T	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Lys1065Asn	rs749185172	missense variant	-	NC_000010.11:g.103602023C>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln1067Arg	rs139773955	missense variant	-	NC_000010.11:g.103602018T>C	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Gln1067ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.103602018_103602019TG>-	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Phe1068Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103602014G>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Ile1069Val	rs375843443	missense variant	-	NC_000010.11:g.103602013T>C	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile1069Leu	rs375843443	missense variant	-	NC_000010.11:g.103602013T>G	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ile1069Phe	rs375843443	missense variant	-	NC_000010.11:g.103602013T>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.His1070Leu	rs765653843	missense variant	-	NC_000010.11:g.103602009T>A	ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn1072Asp	rs1274287791	missense variant	-	NC_000010.11:g.103602004T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Leu1073Pro	rs12764700	missense variant	-	NC_000010.11:g.103602000A>G	-
SH3PXD2A	Q5TCZ1	p.Leu1073Pro	rs12764700	missense variant	-	NC_000010.11:g.103602000A>G	UniProt,dbSNP
SH3PXD2A	Q5TCZ1	p.Leu1073Pro	VAR_056993	missense variant	-	NC_000010.11:g.103602000A>G	UniProt
SH3PXD2A	Q5TCZ1	p.Tyr1077Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103601989A>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Tyr1077Cys	rs1449645836	missense variant	-	NC_000010.11:g.103601988T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Val1078Ile	rs561681082	missense variant	-	NC_000010.11:g.103601986C>T	1000Genomes,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ser1079Cys	rs1316784618	missense variant	-	NC_000010.11:g.103601982G>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1081Thr	rs1224789654	missense variant	-	NC_000010.11:g.103601977C>T	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1081Ser	rs1224789654	missense variant	-	NC_000010.11:g.103601977C>A	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1084Lys	rs201558536	missense variant	-	NC_000010.11:g.103601968C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1087Asp	rs376965715	missense variant	-	NC_000010.11:g.103601957C>A	ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Ala1090Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103601950C>T	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Gly1091Ser	rs1320629210	missense variant	-	NC_000010.11:g.103601947C>T	TOPMed
SH3PXD2A	Q5TCZ1	p.Gln1093Arg	rs1172645567	missense variant	-	NC_000010.11:g.103601940T>C	TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1094Asp	rs767600514	missense variant	-	NC_000010.11:g.103601936C>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Gly1095Arg	rs761976124	missense variant	-	NC_000010.11:g.103601935C>G	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Val1096CysPheSerTerUnkUnk	COSM1345606	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.103601932C>-	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Met1098Val	rs902920852	missense variant	-	NC_000010.11:g.103601926T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Glu1099Val	rs149361354	missense variant	-	NC_000010.11:g.103601922T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SH3PXD2A	Q5TCZ1	p.Asn1104Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103601907T>C	NCI-TCGA
SH3PXD2A	Q5TCZ1	p.Asn1106Ser	rs1483084884	missense variant	-	NC_000010.11:g.103601901T>C	gnomAD
SH3PXD2A	Q5TCZ1	p.Trp1109Gly	rs745804582	missense variant	-	NC_000010.11:g.103601893A>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr1110His	COSM4011406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103601890A>G	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Tyr1110Asp	rs780798156	missense variant	-	NC_000010.11:g.103601890A>C	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Tyr1110Phe	rs756855521	missense variant	-	NC_000010.11:g.103601889T>A	ExAC
SH3PXD2A	Q5TCZ1	p.Gln1112Leu	rs1306202356	missense variant	-	NC_000010.11:g.103601883T>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Ile1113Phe	rs777612981	missense variant	-	NC_000010.11:g.103601881T>A	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Asp1115Gly	rs1186898754	missense variant	-	NC_000010.11:g.103601874T>C	TOPMed
SH3PXD2A	Q5TCZ1	p.Gly1116Ser	rs754299114	missense variant	-	NC_000010.11:g.103601872C>T	ExAC,gnomAD
SH3PXD2A	Q5TCZ1	p.Pro1119Leu	COSM914427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.103601862G>A	NCI-TCGA Cosmic
SH3PXD2A	Q5TCZ1	p.Pro1119Ser	rs1468192546	missense variant	-	NC_000010.11:g.103601863G>A	TOPMed
SH3PXD2A	Q5TCZ1	p.Ser1126Phe	rs1291642030	missense variant	-	NC_000010.11:g.103601841G>A	gnomAD
SH3PXD2A	Q5TCZ1	p.Glu1130Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.103601828C>A	NCI-TCGA
HHAT	Q5VTY9	p.Met1Leu	RCV000624001	missense variant	Inborn genetic diseases	NC_000001.11:g.210348976A>T	ClinVar
HHAT	Q5VTY9	p.Leu2Val	rs750211206	missense variant	-	NC_000001.11:g.210348979C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gln	rs758421766	missense variant	-	NC_000001.11:g.210348986G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gly	rs779025178	missense variant	-	NC_000001.11:g.210348985C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg4Ter	rs779025178	stop gained	-	NC_000001.11:g.210348985C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp5Arg	rs777897235	missense variant	-	NC_000001.11:g.210348988T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu6Lys	rs747583836	missense variant	-	NC_000001.11:g.210348991G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala8Thr	rs150162144	missense variant	-	NC_000001.11:g.210348997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu9Phe	rs143903658	missense variant	-	NC_000001.11:g.210349000C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu9Ile	rs143903658	missense variant	-	NC_000001.11:g.210349000C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu12Val	rs1321878496	missense variant	-	NC_000001.11:g.210349009C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala13Val	rs775006103	missense variant	-	NC_000001.11:g.210349013C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Val	rs763566623	missense variant	-	NC_000001.11:g.210349024T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Leu	rs141741088	missense variant	-	NC_000001.11:g.210349026C>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe19Leu	rs761879800	missense variant	-	NC_000001.11:g.210349030T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr20Cys	rs1183312420	missense variant	-	NC_000001.11:g.210349034A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr23Cys	rs138327418	missense variant	-	NC_000001.11:g.210349043A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Phe	rs756004234	missense variant	-	NC_000001.11:g.210349052A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Cys	rs756004234	missense variant	-	NC_000001.11:g.210349052A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys27Arg	rs1454105739	missense variant	-	NC_000001.11:g.210349055A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Val28Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210349057G>T	NCI-TCGA
HHAT	Q5VTY9	p.Ser29Cys	rs752918841	missense variant	-	NC_000001.11:g.210349061C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg30Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210349064G>T	NCI-TCGA
HHAT	Q5VTY9	p.Glu31Asp	rs186282077	missense variant	-	NC_000001.11:g.210362853A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu33Lys	rs751737702	missense variant	-	NC_000001.11:g.210362857G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu33Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210362859A>T	NCI-TCGA
HHAT	Q5VTY9	p.Glu33Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.210362857G>T	NCI-TCGA
HHAT	Q5VTY9	p.Glu33Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210362857G>C	NCI-TCGA
HHAT	Q5VTY9	p.Glu34Lys	rs1217467814	missense variant	-	NC_000001.11:g.210362860G>A	gnomAD
HHAT	Q5VTY9	p.Asp37Glu	rs1241555812	missense variant	-	NC_000001.11:g.210362871C>A	gnomAD
HHAT	Q5VTY9	p.Gln38Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210362873A>C	NCI-TCGA
HHAT	Q5VTY9	p.Glu39Lys	rs1485201545	missense variant	-	NC_000001.11:g.210362875G>A	gnomAD
HHAT	Q5VTY9	p.Phe40Leu	rs144245212	missense variant	-	NC_000001.11:g.210362880T>A	ESP,TOPMed
HHAT	Q5VTY9	p.Leu42Pro	rs1426396610	missense variant	-	NC_000001.11:g.210362885T>C	gnomAD
HHAT	Q5VTY9	p.Thr46Ala	rs757329992	missense variant	-	NC_000001.11:g.210362896A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr46Ser	rs1251088486	missense variant	-	NC_000001.11:g.210362897C>G	TOPMed
HHAT	Q5VTY9	p.Phe48Ser	rs201701816	missense variant	-	NC_000001.11:g.210362903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Cys	rs201701816	missense variant	-	NC_000001.11:g.210362903T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Tyr	rs201701816	missense variant	-	NC_000001.11:g.210362903T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly49Arg	rs141591165	missense variant	-	NC_000001.11:g.210362905G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly50Ter	rs756643679	stop gained	-	NC_000001.11:g.210362908G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly50Arg	rs756643679	missense variant	-	NC_000001.11:g.210362908G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys52Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210362916G>T	NCI-TCGA
HHAT	Q5VTY9	p.Lys53Glu	rs1438602469	missense variant	-	NC_000001.11:g.210362917A>G	gnomAD
HHAT	Q5VTY9	p.Asp54Val	rs746548984	missense variant	-	NC_000001.11:g.210387469A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Asp54Asn	rs777471907	missense variant	-	NC_000001.11:g.210387468G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala55Val	rs139380328	missense variant	-	NC_000001.11:g.210387472C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr56Asn	rs867091715	missense variant	-	NC_000001.11:g.210387475C>A	TOPMed
HHAT	Q5VTY9	p.Asp57Asn	rs1172717093	missense variant	-	NC_000001.11:g.210387477G>A	gnomAD
HHAT	Q5VTY9	p.Trp60Ter	rs762065926	stop gained	-	NC_000001.11:g.210387487G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp60Arg	rs1326549428	missense variant	-	NC_000001.11:g.210387486T>C	gnomAD
HHAT	Q5VTY9	p.Phe62Ile	rs558364465	missense variant	-	NC_000001.11:g.210387492T>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met64Val	rs773260603	missense variant	-	NC_000001.11:g.210387498A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu65Lys	rs760841342	missense variant	-	NC_000001.11:g.210387501G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp66Ter	rs1280659233	stop gained	-	NC_000001.11:g.210387505G>A	gnomAD
HHAT	Q5VTY9	p.Gln69Ter	rs1195612827	stop gained	-	NC_000001.11:g.210387513C>T	gnomAD
HHAT	Q5VTY9	p.Gln69Arg	rs754382840	missense variant	-	NC_000001.11:g.210387514A>G	ExAC
HHAT	Q5VTY9	p.Val72Gly	rs78052077	missense variant	-	NC_000001.11:g.210387523T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val72Leu	rs1188728045	missense variant	-	NC_000001.11:g.210387522G>T	TOPMed
HHAT	Q5VTY9	p.Val72Glu	rs78052077	missense variant	-	NC_000001.11:g.210387523T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp73Gly	rs753087963	missense variant	-	NC_000001.11:g.210387525T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp73Cys	rs758785739	missense variant	-	NC_000001.11:g.210387527G>T	ExAC
HHAT	Q5VTY9	p.Leu74Val	rs1473937850	missense variant	-	NC_000001.11:g.210387528C>G	gnomAD
HHAT	Q5VTY9	p.Leu75Phe	rs777596666	missense variant	-	NC_000001.11:g.210387531C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Met79Thr	rs746572782	missense variant	-	NC_000001.11:g.210387544T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Met79Ile	rs1373594134	missense variant	-	NC_000001.11:g.210387545G>A	gnomAD
HHAT	Q5VTY9	p.Val80Ile	rs1475019815	missense variant	-	NC_000001.11:g.210387546G>A	gnomAD
HHAT	Q5VTY9	p.Val81Met	rs1165981815	missense variant	-	NC_000001.11:g.210387549G>A	gnomAD
HHAT	Q5VTY9	p.Val81Glu	rs756801763	missense variant	-	NC_000001.11:g.210387550T>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr86Pro	rs192652993	missense variant	-	NC_000001.11:g.210387564A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg90Gly	rs769691809	missense variant	-	NC_000001.11:g.210387576A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg90Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210387577G>T	NCI-TCGA
HHAT	Q5VTY9	p.Lys91Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210387579A>G	NCI-TCGA
HHAT	Q5VTY9	p.His92Arg	rs1169086872	missense variant	-	NC_000001.11:g.210400469A>G	gnomAD
HHAT	Q5VTY9	p.Pro94Arg	rs774003816	missense variant	-	NC_000001.11:g.210400475C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro94His	rs774003816	missense variant	-	NC_000001.11:g.210400475C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile96Ser	rs1269395595	missense variant	-	NC_000001.11:g.210400481T>G	gnomAD
HHAT	Q5VTY9	p.Tyr100Cys	rs1192812979	missense variant	-	NC_000001.11:g.210400493A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly101Arg	rs776861325	missense variant	-	NC_000001.11:g.210400495G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met102Leu	rs769924809	missense variant	-	NC_000001.11:g.210400498A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met102Thr	rs1335123292	missense variant	-	NC_000001.11:g.210400499T>C	TOPMed
HHAT	Q5VTY9	p.Cys105Tyr	rs1364527782	missense variant	-	NC_000001.11:g.210400508G>A	gnomAD
HHAT	Q5VTY9	p.Trp106Cys	rs1453153427	missense variant	-	NC_000001.11:g.210400512G>T	gnomAD
HHAT	Q5VTY9	p.Cys107Phe	rs1156840610	missense variant	-	NC_000001.11:g.210400514G>T	gnomAD
HHAT	Q5VTY9	p.Val108Leu	rs763536701	missense variant	-	NC_000001.11:g.210400516G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly110Arg	rs1307835291	missense variant	-	NC_000001.11:g.210400522G>A	gnomAD
HHAT	Q5VTY9	p.Thr111Asn	rs751842969	missense variant	-	NC_000001.11:g.210400526C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro112Leu	rs145455128	missense variant	-	NC_000001.11:g.210400529C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala115Asp	rs1046862949	missense variant	-	NC_000001.11:g.210400538C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met116Val	rs199828596	missense variant	-	NC_000001.11:g.210400540A>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His120Tyr	rs1231178551	missense variant	-	NC_000001.11:g.210400552C>T	gnomAD
HHAT	Q5VTY9	p.Thr122Ala	rs941269680	missense variant	-	NC_000001.11:g.210400558A>G	TOPMed
HHAT	Q5VTY9	p.Thr122Ile	rs1212970048	missense variant	-	NC_000001.11:g.210400559C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser124Phe	rs1271102309	missense variant	-	NC_000001.11:g.210400565C>T	gnomAD
HHAT	Q5VTY9	p.Ser124Cys	rs1271102309	missense variant	-	NC_000001.11:g.210400565C>G	gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	NC_000001.11:g.210400569C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	NC_000001.11:g.210400569C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys126Gly	rs753831505	missense variant	-	NC_000001.11:g.210400570T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Val127Met	rs375839407	missense variant	-	NC_000001.11:g.210400573G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala128Thr	rs1475853230	missense variant	-	NC_000001.11:g.210400576G>A	gnomAD
HHAT	Q5VTY9	p.Gln129His	rs545915563	missense variant	-	NC_000001.11:g.210400581G>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln129Arg	rs141306397	missense variant	-	NC_000001.11:g.210400580A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe130Leu	rs746026575	missense variant	-	NC_000001.11:g.210400584C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe130Cys	rs781566798	missense variant	-	NC_000001.11:g.210400583T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Pro	rs370012146	missense variant	-	NC_000001.11:g.210400586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Gln	rs370012146	missense variant	-	NC_000001.11:g.210400586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Trp	rs138752308	missense variant	-	NC_000001.11:g.210400585C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln133Ter	rs1440623661	stop gained	-	NC_000001.11:g.210400591C>T	TOPMed
HHAT	Q5VTY9	p.Gln133Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210400591C>G	NCI-TCGA
HHAT	Q5VTY9	p.Thr136Ala	rs769025548	missense variant	-	NC_000001.11:g.210400600A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr136Lys	rs376054556	missense variant	-	NC_000001.11:g.210400601C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr136Met	rs376054556	missense variant	-	NC_000001.11:g.210400601C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp137Cys	rs767857766	missense variant	-	NC_000001.11:g.210400605G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys139Arg	rs750090558	missense variant	-	NC_000001.11:g.210400609T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser140Cys	rs760308081	missense variant	-	NC_000001.11:g.210400613C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr146Ile	rs200772379	missense variant	-	NC_000001.11:g.210400631C>T	TOPMed
HHAT	Q5VTY9	p.Thr146Ala	rs765941795	missense variant	-	NC_000001.11:g.210400630A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly151Ser	rs374495612	missense variant	-	NC_000001.11:g.210400645G>A	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly151Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210400646G>T	NCI-TCGA
HHAT	Q5VTY9	p.Glu153Lys	rs753322887	missense variant	-	NC_000001.11:g.210400651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu154Ala	COSM425226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210400655A>C	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Val155Ile	rs754462235	missense variant	-	NC_000001.11:g.210400657G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg157Thr	rs1055755703	missense variant	-	NC_000001.11:g.210404465G>C	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg157Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210404465G>T	NCI-TCGA
HHAT	Q5VTY9	p.Tyr160Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210404473T>A	NCI-TCGA
HHAT	Q5VTY9	p.Lys161Gln	rs764017113	missense variant	-	NC_000001.11:g.210404476A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn164Asp	rs748514239	missense variant	-	NC_000001.11:g.210404485A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu165Lys	rs374048677	missense variant	-	NC_000001.11:g.210404488G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr172Met	rs139483274	missense variant	-	NC_000001.11:g.210404510C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr172Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210404509A>G	NCI-TCGA
HHAT	Q5VTY9	p.Leu173Met	rs924597283	missense variant	-	NC_000001.11:g.210404512C>A	-
HHAT	Q5VTY9	p.Thr174Ile	rs747405504	missense variant	-	NC_000001.11:g.210404516C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr174Ser	rs1365991028	missense variant	-	NC_000001.11:g.210404515A>T	gnomAD
HHAT	Q5VTY9	p.Val175Ile	rs776159715	missense variant	-	NC_000001.11:g.210404518G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg176His	rs145435771	missense variant	-	NC_000001.11:g.210404522G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176Cys	rs567439002	missense variant	-	NC_000001.11:g.210404521C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176Leu	rs145435771	missense variant	-	NC_000001.11:g.210404522G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys177Tyr	rs775030191	missense variant	-	NC_000001.11:g.210404525G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu178Val	rs1374615080	missense variant	-	NC_000001.11:g.210404527C>G	TOPMed
HHAT	Q5VTY9	p.Tyr179Cys	rs535833711	missense variant	-	NC_000001.11:g.210404531A>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr181Asn	rs765901690	missense variant	-	NC_000001.11:g.210404537C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr181Ile	rs765901690	missense variant	-	NC_000001.11:g.210404537C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	NC_000001.11:g.210404540G>A	UniProt,dbSNP
HHAT	Q5VTY9	p.Ser182Asn	VAR_024743	missense variant	-	NC_000001.11:g.210404540G>A	UniProt
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	NC_000001.11:g.210404540G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser184Ile	rs1206506032	missense variant	-	NC_000001.11:g.210404546G>T	gnomAD
HHAT	Q5VTY9	p.Leu185Val	rs755225544	missense variant	-	NC_000001.11:g.210404548C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys188Arg	rs34228541	missense variant	-	NC_000001.11:g.210404557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys188Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210404558G>A	NCI-TCGA
HHAT	Q5VTY9	p.Leu192Pro	rs955610159	missense variant	-	NC_000001.11:g.210404570T>C	TOPMed
HHAT	Q5VTY9	p.Pro193Arg	rs758432747	missense variant	-	NC_000001.11:g.210404573C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro193Leu	rs758432747	missense variant	-	NC_000001.11:g.210404573C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser196Leu	rs376601925	missense variant	-	NC_000001.11:g.210404582C>T	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr197Pro	rs1327760185	missense variant	-	NC_000001.11:g.210404584A>C	gnomAD
HHAT	Q5VTY9	p.Ser198Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210404588C>T	NCI-TCGA
HHAT	Q5VTY9	p.Tyr199Cys	rs747455697	missense variant	-	NC_000001.11:g.210404591A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser200Pro	rs771340497	missense variant	-	NC_000001.11:g.210404593T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser200Phe	rs781614202	missense variant	-	NC_000001.11:g.210404594C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro202Ser	rs1219742764	missense variant	-	NC_000001.11:g.210404599C>T	gnomAD
HHAT	Q5VTY9	p.Ala206Thr	rs1234274214	missense variant	-	NC_000001.11:g.210404611G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr207Cys	rs1176162825	missense variant	-	NC_000001.11:g.210404615A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Val208Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210404618T>C	NCI-TCGA
HHAT	Q5VTY9	p.Phe209Tyr	rs769462211	missense variant	-	NC_000001.11:g.210404621T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Leu	rs1393561796	missense variant	-	NC_000001.11:g.210404622T>G	gnomAD
HHAT	Q5VTY9	p.Tyr210Ser	rs774960950	missense variant	-	NC_000001.11:g.210404624A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr210Cys	rs774960950	missense variant	-	NC_000001.11:g.210404624A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr210His	rs1459691356	missense variant	-	NC_000001.11:g.210404623T>C	gnomAD
HHAT	Q5VTY9	p.Tyr211His	rs1165960690	missense variant	-	NC_000001.11:g.210404626T>C	gnomAD
HHAT	Q5VTY9	p.Pro212Leu	rs768217049	missense variant	-	NC_000001.11:g.210404630C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu214Ter	COSM903415	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.210404636T>G	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.His215Arg	rs1443167558	missense variant	-	NC_000001.11:g.210404639A>G	gnomAD
HHAT	Q5VTY9	p.Asn216Ser	rs1048728289	missense variant	-	NC_000001.11:g.210404642A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn216Thr	COSM1470128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210404642A>C	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Pro218His	COSM4027818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210404648C>A	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Phe222Leu	rs147320835	missense variant	-	NC_000001.11:g.210404659T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser223Leu	rs767486877	missense variant	-	NC_000001.11:g.210404663C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu224Asp	rs965938188	missense variant	-	NC_000001.11:g.210404667G>C	gnomAD
HHAT	Q5VTY9	p.Phe225Val	rs750203730	missense variant	-	NC_000001.11:g.210404668T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile226Met	COSM5095059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210404673C>G	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Lys227Arg	rs1328074882	missense variant	-	NC_000001.11:g.210404675A>G	TOPMed
HHAT	Q5VTY9	p.Gln228Arg	rs1203362333	missense variant	-	NC_000001.11:g.210404678A>G	gnomAD
HHAT	Q5VTY9	p.Met229Leu	rs1394872962	missense variant	-	NC_000001.11:g.210418154A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Pro	rs778617403	missense variant	-	NC_000001.11:g.210418161A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gln231Glu	rs749015922	missense variant	-	NC_000001.11:g.210418160C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Ter	rs749015922	stop gained	-	NC_000001.11:g.210418160C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Lys	rs749015922	missense variant	-	NC_000001.11:g.210418160C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His234Tyr	rs1231520076	missense variant	-	NC_000001.11:g.210418169C>T	TOPMed
HHAT	Q5VTY9	p.Asp235Asn	rs771415014	missense variant	-	NC_000001.11:g.210418172G>A	ExAC
HHAT	Q5VTY9	p.Ser236Phe	rs773212620	missense variant	-	NC_000001.11:g.210418176C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu237Met	rs746907598	missense variant	-	NC_000001.11:g.210418178C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu241Gln	rs376960795	missense variant	-	NC_000001.11:g.210418191T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Tyr	rs374579980	missense variant	-	NC_000001.11:g.210418194G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys242Gly	rs200438732	missense variant	-	NC_000001.11:g.210418193T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Arg	rs200438732	missense variant	-	NC_000001.11:g.210418193T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val243Ala	rs1284891579	missense variant	-	NC_000001.11:g.210418197T>C	gnomAD
HHAT	Q5VTY9	p.Ala245Asp	rs764319347	missense variant	-	NC_000001.11:g.210418203C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Gly	rs764319347	missense variant	-	NC_000001.11:g.210418203C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Val	rs764319347	missense variant	-	NC_000001.11:g.210418203C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly247Arg	rs767440738	missense variant	-	NC_000001.11:g.210418208G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly249Ser	rs368531187	missense variant	-	NC_000001.11:g.210418214G>A	ESP,TOPMed
HHAT	Q5VTY9	p.Arg250Pro	rs148639278	missense variant	-	NC_000001.11:g.210418218G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250Cys	rs766891856	missense variant	-	NC_000001.11:g.210418217C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250His	rs148639278	missense variant	-	NC_000001.11:g.210418218G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp254Ter	rs987044311	stop gained	-	NC_000001.11:g.210418231G>A	TOPMed
HHAT	Q5VTY9	p.Trp254Ser	rs778740258	missense variant	-	NC_000001.11:g.210418230G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp255Leu	rs1021644358	missense variant	-	NC_000001.11:g.210418233G>T	gnomAD
HHAT	Q5VTY9	p.Trp255Ter	rs1021644358	stop gained	-	NC_000001.11:g.210418233G>A	gnomAD
HHAT	Q5VTY9	p.Trp256Ter	rs372024732	stop gained	-	NC_000001.11:g.210418237G>A	ESP,gnomAD
HHAT	Q5VTY9	p.Ala258Val	rs757984265	missense variant	-	NC_000001.11:g.210418242C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala258Thr	rs747743664	missense variant	-	NC_000001.11:g.210418241G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu259Lys	rs770748303	missense variant	-	NC_000001.11:g.210418244G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His263Gln	rs576213719	missense variant	-	NC_000001.11:g.210418258C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu264Pro	rs769514962	missense variant	-	NC_000001.11:g.210418260T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu264Met	rs745691529	missense variant	-	NC_000001.11:g.210418259C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met265Val	rs375086953	missense variant	-	NC_000001.11:g.210418262A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr266Asp	rs543648313	missense variant	-	NC_000001.11:g.210418265T>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr266Asn	rs543648313	missense variant	-	NC_000001.11:g.210418265T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Met267Ile	rs767706148	missense variant	-	NC_000001.11:g.210418270G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile270Phe	rs1274887070	missense variant	-	NC_000001.11:g.210418277A>T	gnomAD
HHAT	Q5VTY9	p.Tyr271Cys	rs1468755372	missense variant	-	NC_000001.11:g.210418281A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser272Cys	COSM4939402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210418283A>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Ser273Asn	rs1408361995	missense variant	-	NC_000001.11:g.210418287G>A	gnomAD
HHAT	Q5VTY9	p.Leu276Ile	rs761293868	missense variant	-	NC_000001.11:g.210418295C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu276Val	rs761293868	missense variant	-	NC_000001.11:g.210418295C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu278Asp	rs561841936	missense variant	-	NC_000001.11:g.210418303G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys282Ser	rs754359000	missense variant	-	NC_000001.11:g.210418314G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys282Phe	rs754359000	missense variant	-	NC_000001.11:g.210418314G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly287Ter	rs1310390993	stop gained	-	NC_000001.11:g.210464507G>T	gnomAD
HHAT	Q5VTY9	p.Gly287Val	rs1173716957	missense variant	-	NC_000001.11:g.210464508G>T	TOPMed
HHAT	Q5VTY9	p.Gly287Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210464508G>C	NCI-TCGA
HHAT	Q5VTY9	p.Leu288Val	rs1435982918	missense variant	-	NC_000001.11:g.210464510C>G	TOPMed
HHAT	Q5VTY9	p.Ala289Val	rs192286679	missense variant	-	NC_000001.11:g.210464514C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala291Thr	COSM4027822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210464519G>A	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Gln292Arg	rs1475643148	missense variant	-	NC_000001.11:g.210464523A>G	TOPMed
HHAT	Q5VTY9	p.Val293Glu	rs1243613343	missense variant	-	NC_000001.11:g.210464526T>A	TOPMed
HHAT	Q5VTY9	p.Phe295Ser	rs1018558976	missense variant	-	NC_000001.11:g.210464532T>C	TOPMed
HHAT	Q5VTY9	p.Phe296Leu	rs1341668706	missense variant	-	NC_000001.11:g.210464536C>G	gnomAD
HHAT	Q5VTY9	p.Tyr297Cys	rs1487919886	missense variant	-	NC_000001.11:g.210464538A>G	TOPMed
HHAT	Q5VTY9	p.Val298Met	rs967141075	missense variant	-	NC_000001.11:g.210464540G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Val298Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210464540G>T	NCI-TCGA
HHAT	Q5VTY9	p.Lys299Gln	rs144173927	missense variant	-	NC_000001.11:g.210464543A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys299Thr	rs1181785857	missense variant	-	NC_000001.11:g.210464544A>C	gnomAD
HHAT	Q5VTY9	p.Tyr300His	rs756776629	missense variant	-	NC_000001.11:g.210464546T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr300Cys	rs541167454	missense variant	-	NC_000001.11:g.210464547A>G	TOPMed
HHAT	Q5VTY9	p.Tyr300Phe	COSM6061432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210464547A>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Val302Ala	rs780669166	missense variant	-	NC_000001.11:g.210464553T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Val302GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.210464553T>-	NCI-TCGA
HHAT	Q5VTY9	p.Leu303Phe	rs1389201461	missense variant	-	NC_000001.11:g.210464555C>T	gnomAD
HHAT	Q5VTY9	p.Val306Met	rs779948186	missense variant	-	NC_000001.11:g.210464564G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val306Leu	rs779948186	missense variant	-	NC_000001.11:g.210464564G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro307Leu	rs749060244	missense variant	-	NC_000001.11:g.210464568C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala308Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210464571C>T	NCI-TCGA
HHAT	Q5VTY9	p.Leu309Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210464573C>G	NCI-TCGA
HHAT	Q5VTY9	p.Leu310Pro	rs1296554350	missense variant	-	NC_000001.11:g.210464577T>C	gnomAD
HHAT	Q5VTY9	p.Met311Thr	rs200901586	missense variant	-	NC_000001.11:g.210464580T>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Cys	rs777865030	missense variant	-	NC_000001.11:g.210464582C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312His	rs34362403	missense variant	-	NC_000001.11:g.210464583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Ser	rs777865030	missense variant	-	NC_000001.11:g.210464582C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp314Asn	rs1463422784	missense variant	-	NC_000001.11:g.210464588G>A	gnomAD
HHAT	Q5VTY9	p.Asp314Glu	rs1209434701	missense variant	-	NC_000001.11:g.210464590T>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu316Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210464594C>T	NCI-TCGA
HHAT	Q5VTY9	p.Thr317Ala	rs1254789301	missense variant	-	NC_000001.11:g.210464597A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr317Ile	rs771201072	missense variant	-	NC_000001.11:g.210464598C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro318Leu	rs1026211141	missense variant	-	NC_000001.11:g.210464601C>T	TOPMed
HHAT	Q5VTY9	p.Pro318Ser	COSM3483009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210464600C>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Pro319Ser	rs770442814	missense variant	-	NC_000001.11:g.210464603C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala320Thr	rs143700139	missense variant	-	NC_000001.11:g.210464606G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Ser	rs143700139	missense variant	-	NC_000001.11:g.210464606G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Pro	rs143700139	missense variant	-	NC_000001.11:g.210464606G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu321Phe	rs534915659	missense variant	-	NC_000001.11:g.210464609C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Pro322Ser	rs773936014	missense variant	-	NC_000001.11:g.210464612C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro322Leu	rs761454249	missense variant	-	NC_000001.11:g.210464613C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Ser	rs146916002	missense variant	-	NC_000001.11:g.210464615C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Cys	rs146916002	missense variant	-	NC_000001.11:g.210464615C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323His	rs749916241	missense variant	-	NC_000001.11:g.210464616G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Leu	COSM903418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210464616G>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Val325Met	rs766259679	missense variant	-	NC_000001.11:g.210464621G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser326Asn	rs1310979158	missense variant	-	NC_000001.11:g.210464625G>A	gnomAD
HHAT	Q5VTY9	p.Ser326Arg	rs1305915605	missense variant	-	NC_000001.11:g.210464624A>C	gnomAD
HHAT	Q5VTY9	p.Thr327Ala	rs753743106	missense variant	-	NC_000001.11:g.210464627A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met328Ile	rs369156629	missense variant	-	NC_000001.11:g.210464632G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Gly	rs1319305222	missense variant	-	NC_000001.11:g.210464636A>G	gnomAD
HHAT	Q5VTY9	p.Ser330Asn	rs778762203	missense variant	-	NC_000001.11:g.210464637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Thr	rs778762203	missense variant	-	NC_000001.11:g.210464637G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr332Ile	rs1267974210	missense variant	-	NC_000001.11:g.210464643C>T	gnomAD
HHAT	Q5VTY9	p.Gly333Arg	rs61744143	missense variant	-	NC_000001.11:g.210464645G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Val	rs1477472411	missense variant	-	NC_000001.11:g.210464648A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Leu	rs1477472411	missense variant	-	NC_000001.11:g.210464648A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Lys	rs1418277029	missense variant	-	NC_000001.11:g.210464649T>A	TOPMed
HHAT	Q5VTY9	p.Met334Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210464650G>A	NCI-TCGA
HHAT	Q5VTY9	p.Arg336Ser	rs774794788	missense variant	-	NC_000001.11:g.210513153G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr337His	rs1480552168	missense variant	-	NC_000001.11:g.210513154T>C	TOPMed
HHAT	Q5VTY9	p.Asp339Glu	rs1486645557	missense variant	-	NC_000001.11:g.210513162T>A	gnomAD
HHAT	Q5VTY9	p.Val340Ile	rs748544351	missense variant	-	NC_000001.11:g.210513163G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val340Ala	rs1236766012	missense variant	-	NC_000001.11:g.210513164T>C	gnomAD
HHAT	Q5VTY9	p.His343Tyr	rs1471698324	missense variant	-	NC_000001.11:g.210513172C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn344His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210513175A>C	NCI-TCGA
HHAT	Q5VTY9	p.Arg348Thr	rs1430616111	missense variant	-	NC_000001.11:g.210513188G>C	gnomAD
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	NC_000001.11:g.210587898G>C	TOPMed
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	NC_000001.11:g.210587898G>T	TOPMed
HHAT	Q5VTY9	p.Arg348Lys	COSM74896	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210513188G>A	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Tyr349Ter	COSM4027829	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.210587901T>G	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Val350Glu	rs529893253	missense variant	-	NC_000001.11:g.210587903T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr351Cys	rs1413244904	missense variant	-	NC_000001.11:g.210587906A>G	gnomAD
HHAT	Q5VTY9	p.Ile352Leu	rs778078227	missense variant	-	NC_000001.11:g.210587908A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile352Val	rs778078227	missense variant	-	NC_000001.11:g.210587908A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro353Ser	rs746687297	missense variant	-	NC_000001.11:g.210587911C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly355Ser	rs768820197	missense variant	-	NC_000001.11:g.210587917G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly356Arg	rs776106560	missense variant	-	NC_000001.11:g.210587920G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser357Cys	rs1336939401	missense variant	-	NC_000001.11:g.210587924C>G	TOPMed
HHAT	Q5VTY9	p.Gln358Arg	rs1331461975	missense variant	-	NC_000001.11:g.210587927A>G	TOPMed
HHAT	Q5VTY9	p.His359Tyr	rs1390109673	missense variant	-	NC_000001.11:g.210587929C>T	TOPMed
HHAT	Q5VTY9	p.Leu361Met	rs775624263	missense variant	-	NC_000001.11:g.210587935C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu362Arg	rs1189204348	missense variant	-	NC_000001.11:g.210587939T>G	gnomAD
HHAT	Q5VTY9	p.Gly363Arg	COSM3483014	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210587941G>A	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Leu365Arg	rs1472183131	missense variant	-	NC_000001.11:g.210587948T>G	TOPMed
HHAT	Q5VTY9	p.Leu365Val	rs1206534082	missense variant	-	NC_000001.11:g.210587947C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	NC_000001.11:g.210587952T>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	NC_000001.11:g.210587952T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr368Met	rs761470224	missense variant	-	NC_000001.11:g.210587957C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala369Thr	rs1250855428	missense variant	-	NC_000001.11:g.210587959G>A	TOPMed
HHAT	Q5VTY9	p.Ala369Val	rs753942041	missense variant	-	NC_000001.11:g.210587960C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met370Val	rs753271439	missense variant	-	NC_000001.11:g.210587962A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Leu	rs753271439	missense variant	-	NC_000001.11:g.210587962A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Ile	rs761768543	missense variant	-	NC_000001.11:g.210587964G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ile	rs149597734	missense variant	-	NC_000001.11:g.210587966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr371Ala	rs778202949	missense variant	-	NC_000001.11:g.210587965A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210587965A>T	NCI-TCGA
HHAT	Q5VTY9	p.Phe372Cys	rs771134636	missense variant	-	NC_000001.11:g.210587969T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Ser	rs771134636	missense variant	-	NC_000001.11:g.210587969T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Tyr	rs771134636	missense variant	-	NC_000001.11:g.210587969T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala373Thr	rs780907560	missense variant	-	NC_000001.11:g.210587971G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val375Ala	COSM4027831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210587978T>C	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Tyr377Cys	rs745491597	missense variant	-	NC_000001.11:g.210587984A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Gly	rs75379612	missense variant	-	NC_000001.11:g.210587986T>G	gnomAD
HHAT	Q5VTY9	p.Trp378Cys	rs769492158	missense variant	-	NC_000001.11:g.210587988G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Ter	rs1350371972	stop gained	-	NC_000001.11:g.210587987G>A	TOPMed
HHAT	Q5VTY9	p.Trp378Ter	COSM903421	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.210587988G>A	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.His379Tyr	rs191150462	missense variant	-	NC_000001.11:g.210587989C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His379Arg	rs1407130052	missense variant	-	NC_000001.11:g.210587990A>G	TOPMed
HHAT	Q5VTY9	p.Gly380Ser	rs1319221366	missense variant	-	NC_000001.11:g.210587992G>A	gnomAD
HHAT	Q5VTY9	p.Gly381Ser	rs755024350	missense variant	-	NC_000001.11:g.210587995G>A	NCI-TCGA
HHAT	Q5VTY9	p.Gly381Ser	rs755024350	missense variant	-	NC_000001.11:g.210587995G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr382His	rs1210658100	missense variant	-	NC_000001.11:g.210587998T>C	gnomAD
HHAT	Q5VTY9	p.Asp383Asn	rs537432647	missense variant	-	NC_000001.11:g.210588001G>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Glu	rs1471597942	missense variant	-	NC_000001.11:g.210588003C>G	TOPMed
HHAT	Q5VTY9	p.Asp383Ala	rs148696006	missense variant	-	NC_000001.11:g.210588002A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Gly	rs148696006	missense variant	-	NC_000001.11:g.210588002A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu385Phe	rs1253211468	missense variant	-	NC_000001.11:g.210588007C>T	gnomAD
HHAT	Q5VTY9	p.Leu385Pro	rs1472535776	missense variant	-	NC_000001.11:g.210588008T>C	gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	NC_000001.11:g.210588012G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	NC_000001.11:g.210588012G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys387Gly	rs1286369938	missense variant	-	NC_000001.11:g.210588013T>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys387Tyr	rs958275249	missense variant	-	NC_000001.11:g.210588014G>A	TOPMed
HHAT	Q5VTY9	p.Cys387Arg	COSM3483016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210588013T>C	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Trp388Ter	rs759676083	stop gained	-	NC_000001.11:g.210588018G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala389Thr	rs765348085	missense variant	-	NC_000001.11:g.210588019G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala390Glu	rs139134333	missense variant	-	NC_000001.11:g.210588023C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala390Val	rs139134333	missense variant	-	NC_000001.11:g.210588023C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu391Pro	rs1447758274	missense variant	-	NC_000001.11:g.210588026T>C	TOPMed
HHAT	Q5VTY9	p.Leu391Phe	rs1308080230	missense variant	-	NC_000001.11:g.210588025C>T	gnomAD
HHAT	Q5VTY9	p.Asn392Ser	rs145501609	missense variant	-	NC_000001.11:g.210588029A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn392Lys	rs781404828	missense variant	-	NC_000001.11:g.210588030C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp393Ter	rs745572125	stop gained	-	NC_000001.11:g.210588033G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly395Glu	rs1041130066	missense variant	-	NC_000001.11:g.210588038G>A	TOPMed
HHAT	Q5VTY9	p.Gly395Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210588037G>A	NCI-TCGA
HHAT	Q5VTY9	p.Val396Ile	rs1329136878	missense variant	-	NC_000001.11:g.210588040G>A	TOPMed
HHAT	Q5VTY9	p.Thr397Ala	rs201464164	missense variant	-	NC_000001.11:g.210588043A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu399Gly	rs1354462659	missense variant	-	NC_000001.11:g.210588050A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ser	rs528513055	missense variant	-	NC_000001.11:g.210588053A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ile	rs528513055	missense variant	-	NC_000001.11:g.210588053A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly401Arg	rs1435366590	missense variant	-	NC_000001.11:g.210588055G>A	TOPMed
HHAT	Q5VTY9	p.Val402Ala	rs147691760	missense variant	-	NC_000001.11:g.210588059T>C	ESP,gnomAD
HHAT	Q5VTY9	p.Arg403Gln	rs368498838	missense variant	-	NC_000001.11:g.210588062G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg403Trp	rs144274904	missense variant	-	NC_000001.11:g.210588061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg403Pro	COSM678760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210588062G>C	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Val406Ala	rs1387194915	missense variant	-	NC_000001.11:g.210588071T>C	TOPMed
HHAT	Q5VTY9	p.Glu407Lys	rs772854695	missense variant	-	NC_000001.11:g.210588073G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr408Ile	rs760410532	missense variant	-	NC_000001.11:g.210588077C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro409Thr	rs765471482	missense variant	-	NC_000001.11:g.210588079C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro409Ala	rs765471482	missense variant	-	NC_000001.11:g.210588079C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro409Leu	COSM1501159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210588080C>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Asp413Ala	rs1190379715	missense variant	-	NC_000001.11:g.210588092A>C	TOPMed
HHAT	Q5VTY9	p.Ser414Arg	rs572645178	missense variant	-	NC_000001.11:g.210588094A>C	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Ala416Thr	rs1274596916	missense variant	-	NC_000001.11:g.210623526G>A	TOPMed
HHAT	Q5VTY9	p.Ala416Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210623527C>T	NCI-TCGA
HHAT	Q5VTY9	p.Arg417Gln	rs372287242	missense variant	-	NC_000001.11:g.210623530G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg417Ter	rs767942183	stop gained	-	NC_000001.11:g.210623529C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr418Ter	rs761135455	stop gained	-	NC_000001.11:g.210623534C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser420Thr	rs1400124587	missense variant	-	NC_000001.11:g.210623538T>A	TOPMed
HHAT	Q5VTY9	p.Pro421Leu	rs766841031	missense variant	-	NC_000001.11:g.210623542C>T	NCI-TCGA
HHAT	Q5VTY9	p.Pro421Leu	rs766841031	missense variant	-	NC_000001.11:g.210623542C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln422Arg	rs147869616	missense variant	-	NC_000001.11:g.210623545A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424His	rs752178549	missense variant	-	NC_000001.11:g.210623551G>A	NCI-TCGA
HHAT	Q5VTY9	p.Arg424His	rs752178549	missense variant	-	NC_000001.11:g.210623551G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424Cys	rs778537110	missense variant	-	NC_000001.11:g.210623550C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg425Cys	rs367896407	missense variant	-	NC_000001.11:g.210623553C>T	NCI-TCGA
HHAT	Q5VTY9	p.Arg425Cys	rs367896407	missense variant	-	NC_000001.11:g.210623553C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg425His	rs777581246	missense variant	-	NC_000001.11:g.210623554G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Gln	rs371790765	missense variant	-	NC_000001.11:g.210623557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Leu	rs371790765	missense variant	-	NC_000001.11:g.210623557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Ter	COSM175069	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.210623556C>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Phe427Leu	rs770778775	missense variant	-	NC_000001.11:g.210623559T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	NC_000001.11:g.210623561C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	NC_000001.11:g.210623561C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His428Tyr	rs1267872556	missense variant	-	NC_000001.11:g.210623562C>T	gnomAD
HHAT	Q5VTY9	p.Ala429Thr	rs376491664	missense variant	-	NC_000001.11:g.210623565G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala429Thr	rs376491664	missense variant	-	NC_000001.11:g.210623565G>A	NCI-TCGA
HHAT	Q5VTY9	p.Ala430Thr	rs1020683342	missense variant	-	NC_000001.11:g.210623568G>A	TOPMed
HHAT	Q5VTY9	p.Ala430Val	rs1246866620	missense variant	-	NC_000001.11:g.210623569C>T	gnomAD
HHAT	Q5VTY9	p.Leu431Phe	rs772132903	missense variant	-	NC_000001.11:g.210623571C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu431Val	rs772132903	missense variant	-	NC_000001.11:g.210623571C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu431Arg	rs1327162202	missense variant	-	NC_000001.11:g.210623572T>G	gnomAD
HHAT	Q5VTY9	p.Ser433Cys	rs1202168184	missense variant	-	NC_000001.11:g.210623578C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser433Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210623578C>T	NCI-TCGA
HHAT	Q5VTY9	p.Ser435Phe	COSM425229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210623584C>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Ser435Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210623583T>C	NCI-TCGA
HHAT	Q5VTY9	p.Thr436Ile	rs952228974	missense variant	-	NC_000001.11:g.210623587C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Leu	rs113371678	missense variant	-	NC_000001.11:g.210623590C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Trp	rs113371678	missense variant	-	NC_000001.11:g.210623590C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Leu	rs113371678	missense variant	-	NC_000001.11:g.210623590C>T	NCI-TCGA
HHAT	Q5VTY9	p.Ile440Ser	rs202236243	missense variant	-	NC_000001.11:g.210623599T>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn443Ser	rs759902169	missense variant	-	NC_000001.11:g.210623608A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu444Met	rs764798520	missense variant	-	NC_000001.11:g.210623610C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val445Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210623613G>T	NCI-TCGA
HHAT	Q5VTY9	p.Phe446Leu	rs761804644	missense variant	-	NC_000001.11:g.210623616T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu447Pro	rs751537022	missense variant	-	NC_000001.11:g.210623620T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Leu447Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210623619C>A	NCI-TCGA
HHAT	Q5VTY9	p.Gly448Arg	rs1288194139	missense variant	-	NC_000001.11:g.210623622G>A	gnomAD
HHAT	Q5VTY9	p.Gly448Glu	rs757163023	missense variant	-	NC_000001.11:g.210623623G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly448Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210623623G>T	NCI-TCGA
HHAT	Q5VTY9	p.Gly449Asp	rs112551598	missense variant	-	NC_000001.11:g.210623626G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450His	rs1236467255	missense variant	-	NC_000001.11:g.210623628A>C	TOPMed
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	NC_000001.11:g.210623629A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	NC_000001.11:g.210623629A>G	UniProt,dbSNP
HHAT	Q5VTY9	p.Asn450Ser	VAR_024745	missense variant	-	NC_000001.11:g.210623629A>G	UniProt
HHAT	Q5VTY9	p.Gly453Val	rs544741245	missense variant	-	NC_000001.11:g.210623638G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Gly453Arg	rs779017166	missense variant	-	NC_000001.11:g.210623637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys454Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.210623640A>G	NCI-TCGA
HHAT	Q5VTY9	p.Thr455Ser	rs1231046147	missense variant	-	NC_000001.11:g.210623644C>G	gnomAD
HHAT	Q5VTY9	p.Thr455Ala	rs1181369040	missense variant	-	NC_000001.11:g.210623643A>G	gnomAD
HHAT	Q5VTY9	p.Tyr456His	rs772114026	missense variant	-	NC_000001.11:g.210623646T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp457Ter	rs773398217	stop gained	-	NC_000001.11:g.210623651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp457Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.210623650G>A	NCI-TCGA
HHAT	Q5VTY9	p.Asn458Thr	rs1414852061	missense variant	-	NC_000001.11:g.210623653A>C	gnomAD
HHAT	Q5VTY9	p.Arg459Gly	rs1404967475	missense variant	-	NC_000001.11:g.210623655A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile460Met	rs1161817788	missense variant	-	NC_000001.11:g.210623660C>G	gnomAD
HHAT	Q5VTY9	p.Phe461Val	rs747570787	missense variant	-	NC_000001.11:g.210623661T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile462Val	rs372765603	missense variant	-	NC_000001.11:g.210623664A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln463His	rs759828685	missense variant	-	NC_000001.11:g.210623669A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gln463His	rs759828685	missense variant	-	NC_000001.11:g.210623669A>C	NCI-TCGA
HHAT	Q5VTY9	p.Gly464Ala	rs1473013625	missense variant	-	NC_000001.11:g.210674288G>C	gnomAD
HHAT	Q5VTY9	p.Gly464Arg	rs765617712	missense variant	-	NC_000001.11:g.210623670G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly464Ser	rs765617712	missense variant	-	NC_000001.11:g.210623670G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp465Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.210674292G>A	NCI-TCGA
HHAT	Q5VTY9	p.Pro466Ala	rs1162782214	missense variant	-	NC_000001.11:g.210674293C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ser	rs1162782214	missense variant	-	NC_000001.11:g.210674293C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp467Ter	rs766141146	stop gained	-	NC_000001.11:g.210674298G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr469Ser	COSM4930079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210674302A>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Ser471Pro	rs1341787711	missense variant	-	NC_000001.11:g.210674308T>C	TOPMed
HHAT	Q5VTY9	p.Tyr479Cys	rs1389282522	missense variant	-	NC_000001.11:g.210674333A>G	gnomAD
HHAT	Q5VTY9	p.Ser480Phe	rs778151421	missense variant	-	NC_000001.11:g.210674336C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Val482Met	rs200853402	missense variant	-	NC_000001.11:g.210674341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile484Val	rs1489287557	missense variant	-	NC_000001.11:g.210674347A>G	gnomAD
HHAT	Q5VTY9	p.Ile484Thr	rs781297562	missense variant	-	NC_000001.11:g.210674348T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala485Val	COSM6061426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210674351C>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Trp486Leu	rs145943928	missense variant	-	NC_000001.11:g.210674354G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala487Thr	rs977412599	missense variant	-	NC_000001.11:g.210674356G>A	TOPMed
HHAT	Q5VTY9	p.Thr489Asn	rs770356363	missense variant	-	NC_000001.11:g.210674363C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr489Ile	rs770356363	missense variant	-	NC_000001.11:g.210674363C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr489Ser	COSM1320510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.210674362A>T	NCI-TCGA Cosmic
HHAT	Q5VTY9	p.Ala491Val	rs1194243455	missense variant	-	NC_000001.11:g.210674369C>T	gnomAD
HHAT	Q5VTY9	p.Ala491Thr	rs749666736	missense variant	-	NC_000001.11:g.210674368G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr492Met	rs148466987	missense variant	-	NC_000001.11:g.210674372C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Asn	rs200680141	missense variant	-	NC_000001.11:g.210674374G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Glu	rs1258511865	missense variant	-	NC_000001.11:g.210674376C>G	TOPMed
HHAT	Q5VTY9	p.Met1Leu	RCV000624001	missense variant	Inborn genetic diseases	NC_000001.11:g.210348976A>T	ClinVar
HHAT	Q5VTY9	p.Leu2Val	rs750211206	missense variant	-	NC_000001.11:g.210348979C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gln	rs758421766	missense variant	-	NC_000001.11:g.210348986G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gly	rs779025178	missense variant	-	NC_000001.11:g.210348985C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg4Ter	rs779025178	stop gained	-	NC_000001.11:g.210348985C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp5Arg	rs777897235	missense variant	-	NC_000001.11:g.210348988T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu6Lys	rs747583836	missense variant	-	NC_000001.11:g.210348991G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala8Thr	rs150162144	missense variant	-	NC_000001.11:g.210348997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu9Phe	rs143903658	missense variant	-	NC_000001.11:g.210349000C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu9Ile	rs143903658	missense variant	-	NC_000001.11:g.210349000C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu12Val	rs1321878496	missense variant	-	NC_000001.11:g.210349009C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala13Val	rs775006103	missense variant	-	NC_000001.11:g.210349013C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Val	rs763566623	missense variant	-	NC_000001.11:g.210349024T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Leu	rs141741088	missense variant	-	NC_000001.11:g.210349026C>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe19Leu	rs761879800	missense variant	-	NC_000001.11:g.210349030T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr20Cys	rs1183312420	missense variant	-	NC_000001.11:g.210349034A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr23Cys	rs138327418	missense variant	-	NC_000001.11:g.210349043A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Phe	rs756004234	missense variant	-	NC_000001.11:g.210349052A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Cys	rs756004234	missense variant	-	NC_000001.11:g.210349052A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys27Arg	rs1454105739	missense variant	-	NC_000001.11:g.210349055A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser29Cys	rs752918841	missense variant	-	NC_000001.11:g.210349061C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu31Asp	rs186282077	missense variant	-	NC_000001.11:g.210362853A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu33Lys	rs751737702	missense variant	-	NC_000001.11:g.210362857G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu34Lys	rs1217467814	missense variant	-	NC_000001.11:g.210362860G>A	gnomAD
HHAT	Q5VTY9	p.Asp37Glu	rs1241555812	missense variant	-	NC_000001.11:g.210362871C>A	gnomAD
HHAT	Q5VTY9	p.Glu39Lys	rs1485201545	missense variant	-	NC_000001.11:g.210362875G>A	gnomAD
HHAT	Q5VTY9	p.Phe40Leu	rs144245212	missense variant	-	NC_000001.11:g.210362880T>A	ESP,TOPMed
HHAT	Q5VTY9	p.Leu42Pro	rs1426396610	missense variant	-	NC_000001.11:g.210362885T>C	gnomAD
HHAT	Q5VTY9	p.Thr46Ala	rs757329992	missense variant	-	NC_000001.11:g.210362896A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr46Ser	rs1251088486	missense variant	-	NC_000001.11:g.210362897C>G	TOPMed
HHAT	Q5VTY9	p.Phe48Ser	rs201701816	missense variant	-	NC_000001.11:g.210362903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Cys	rs201701816	missense variant	-	NC_000001.11:g.210362903T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Tyr	rs201701816	missense variant	-	NC_000001.11:g.210362903T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly49Arg	rs141591165	missense variant	-	NC_000001.11:g.210362905G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly50Arg	rs756643679	missense variant	-	NC_000001.11:g.210362908G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly50Ter	rs756643679	stop gained	-	NC_000001.11:g.210362908G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys53Glu	rs1438602469	missense variant	-	NC_000001.11:g.210362917A>G	gnomAD
HHAT	Q5VTY9	p.Asp54Asn	rs777471907	missense variant	-	NC_000001.11:g.210387468G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Asp54Val	rs746548984	missense variant	-	NC_000001.11:g.210387469A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala55Val	rs139380328	missense variant	-	NC_000001.11:g.210387472C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr56Asn	rs867091715	missense variant	-	NC_000001.11:g.210387475C>A	TOPMed
HHAT	Q5VTY9	p.Asp57Asn	rs1172717093	missense variant	-	NC_000001.11:g.210387477G>A	gnomAD
HHAT	Q5VTY9	p.Trp60Ter	rs762065926	stop gained	-	NC_000001.11:g.210387487G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp60Arg	rs1326549428	missense variant	-	NC_000001.11:g.210387486T>C	gnomAD
HHAT	Q5VTY9	p.Phe62Ile	rs558364465	missense variant	-	NC_000001.11:g.210387492T>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met64Val	rs773260603	missense variant	-	NC_000001.11:g.210387498A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu65Lys	rs760841342	missense variant	-	NC_000001.11:g.210387501G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp66Ter	rs1280659233	stop gained	-	NC_000001.11:g.210387505G>A	gnomAD
HHAT	Q5VTY9	p.Gln69Ter	rs1195612827	stop gained	-	NC_000001.11:g.210387513C>T	gnomAD
HHAT	Q5VTY9	p.Gln69Arg	rs754382840	missense variant	-	NC_000001.11:g.210387514A>G	ExAC
HHAT	Q5VTY9	p.Val72Gly	rs78052077	missense variant	-	NC_000001.11:g.210387523T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val72Leu	rs1188728045	missense variant	-	NC_000001.11:g.210387522G>T	TOPMed
HHAT	Q5VTY9	p.Val72Glu	rs78052077	missense variant	-	NC_000001.11:g.210387523T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp73Gly	rs753087963	missense variant	-	NC_000001.11:g.210387525T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp73Cys	rs758785739	missense variant	-	NC_000001.11:g.210387527G>T	ExAC
HHAT	Q5VTY9	p.Leu74Val	rs1473937850	missense variant	-	NC_000001.11:g.210387528C>G	gnomAD
HHAT	Q5VTY9	p.Leu75Phe	rs777596666	missense variant	-	NC_000001.11:g.210387531C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Met79Ile	rs1373594134	missense variant	-	NC_000001.11:g.210387545G>A	gnomAD
HHAT	Q5VTY9	p.Met79Thr	rs746572782	missense variant	-	NC_000001.11:g.210387544T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Val80Ile	rs1475019815	missense variant	-	NC_000001.11:g.210387546G>A	gnomAD
HHAT	Q5VTY9	p.Val81Glu	rs756801763	missense variant	-	NC_000001.11:g.210387550T>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val81Met	rs1165981815	missense variant	-	NC_000001.11:g.210387549G>A	gnomAD
HHAT	Q5VTY9	p.Thr86Pro	rs192652993	missense variant	-	NC_000001.11:g.210387564A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg90Gly	rs769691809	missense variant	-	NC_000001.11:g.210387576A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.His92Arg	rs1169086872	missense variant	-	NC_000001.11:g.210400469A>G	gnomAD
HHAT	Q5VTY9	p.Pro94His	rs774003816	missense variant	-	NC_000001.11:g.210400475C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro94Arg	rs774003816	missense variant	-	NC_000001.11:g.210400475C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile96Ser	rs1269395595	missense variant	-	NC_000001.11:g.210400481T>G	gnomAD
HHAT	Q5VTY9	p.Tyr100Cys	rs1192812979	missense variant	-	NC_000001.11:g.210400493A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly101Arg	rs776861325	missense variant	-	NC_000001.11:g.210400495G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met102Leu	rs769924809	missense variant	-	NC_000001.11:g.210400498A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met102Thr	rs1335123292	missense variant	-	NC_000001.11:g.210400499T>C	TOPMed
HHAT	Q5VTY9	p.Cys105Tyr	rs1364527782	missense variant	-	NC_000001.11:g.210400508G>A	gnomAD
HHAT	Q5VTY9	p.Trp106Cys	rs1453153427	missense variant	-	NC_000001.11:g.210400512G>T	gnomAD
HHAT	Q5VTY9	p.Cys107Phe	rs1156840610	missense variant	-	NC_000001.11:g.210400514G>T	gnomAD
HHAT	Q5VTY9	p.Val108Leu	rs763536701	missense variant	-	NC_000001.11:g.210400516G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly110Arg	rs1307835291	missense variant	-	NC_000001.11:g.210400522G>A	gnomAD
HHAT	Q5VTY9	p.Thr111Asn	rs751842969	missense variant	-	NC_000001.11:g.210400526C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro112Leu	rs145455128	missense variant	-	NC_000001.11:g.210400529C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala115Asp	rs1046862949	missense variant	-	NC_000001.11:g.210400538C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met116Val	rs199828596	missense variant	-	NC_000001.11:g.210400540A>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His120Tyr	rs1231178551	missense variant	-	NC_000001.11:g.210400552C>T	gnomAD
HHAT	Q5VTY9	p.Thr122Ile	rs1212970048	missense variant	-	NC_000001.11:g.210400559C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr122Ala	rs941269680	missense variant	-	NC_000001.11:g.210400558A>G	TOPMed
HHAT	Q5VTY9	p.Ser124Phe	rs1271102309	missense variant	-	NC_000001.11:g.210400565C>T	gnomAD
HHAT	Q5VTY9	p.Ser124Cys	rs1271102309	missense variant	-	NC_000001.11:g.210400565C>G	gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	NC_000001.11:g.210400569C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	NC_000001.11:g.210400569C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys126Gly	rs753831505	missense variant	-	NC_000001.11:g.210400570T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Val127Met	rs375839407	missense variant	-	NC_000001.11:g.210400573G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala128Thr	rs1475853230	missense variant	-	NC_000001.11:g.210400576G>A	gnomAD
HHAT	Q5VTY9	p.Gln129His	rs545915563	missense variant	-	NC_000001.11:g.210400581G>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln129Arg	rs141306397	missense variant	-	NC_000001.11:g.210400580A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe130Cys	rs781566798	missense variant	-	NC_000001.11:g.210400583T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe130Leu	rs746026575	missense variant	-	NC_000001.11:g.210400584C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg131Pro	rs370012146	missense variant	-	NC_000001.11:g.210400586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Gln	rs370012146	missense variant	-	NC_000001.11:g.210400586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Trp	rs138752308	missense variant	-	NC_000001.11:g.210400585C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln133Ter	rs1440623661	stop gained	-	NC_000001.11:g.210400591C>T	TOPMed
HHAT	Q5VTY9	p.Thr136Ala	rs769025548	missense variant	-	NC_000001.11:g.210400600A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr136Lys	rs376054556	missense variant	-	NC_000001.11:g.210400601C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr136Met	rs376054556	missense variant	-	NC_000001.11:g.210400601C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp137Cys	rs767857766	missense variant	-	NC_000001.11:g.210400605G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys139Arg	rs750090558	missense variant	-	NC_000001.11:g.210400609T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser140Cys	rs760308081	missense variant	-	NC_000001.11:g.210400613C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr146Ile	rs200772379	missense variant	-	NC_000001.11:g.210400631C>T	TOPMed
HHAT	Q5VTY9	p.Thr146Ala	rs765941795	missense variant	-	NC_000001.11:g.210400630A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly151Ser	rs374495612	missense variant	-	NC_000001.11:g.210400645G>A	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu153Lys	rs753322887	missense variant	-	NC_000001.11:g.210400651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val155Ile	rs754462235	missense variant	-	NC_000001.11:g.210400657G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg157Thr	rs1055755703	missense variant	-	NC_000001.11:g.210404465G>C	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys161Gln	rs764017113	missense variant	-	NC_000001.11:g.210404476A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn164Asp	rs748514239	missense variant	-	NC_000001.11:g.210404485A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu165Lys	rs374048677	missense variant	-	NC_000001.11:g.210404488G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr172Met	rs139483274	missense variant	-	NC_000001.11:g.210404510C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu173Met	rs924597283	missense variant	-	NC_000001.11:g.210404512C>A	-
HHAT	Q5VTY9	p.Thr174Ser	rs1365991028	missense variant	-	NC_000001.11:g.210404515A>T	gnomAD
HHAT	Q5VTY9	p.Thr174Ile	rs747405504	missense variant	-	NC_000001.11:g.210404516C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Val175Ile	rs776159715	missense variant	-	NC_000001.11:g.210404518G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg176His	rs145435771	missense variant	-	NC_000001.11:g.210404522G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176Cys	rs567439002	missense variant	-	NC_000001.11:g.210404521C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176Leu	rs145435771	missense variant	-	NC_000001.11:g.210404522G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys177Tyr	rs775030191	missense variant	-	NC_000001.11:g.210404525G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu178Val	rs1374615080	missense variant	-	NC_000001.11:g.210404527C>G	TOPMed
HHAT	Q5VTY9	p.Tyr179Cys	rs535833711	missense variant	-	NC_000001.11:g.210404531A>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr181Asn	rs765901690	missense variant	-	NC_000001.11:g.210404537C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr181Ile	rs765901690	missense variant	-	NC_000001.11:g.210404537C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	NC_000001.11:g.210404540G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	NC_000001.11:g.210404540G>A	UniProt,dbSNP
HHAT	Q5VTY9	p.Ser182Asn	VAR_024743	missense variant	-	NC_000001.11:g.210404540G>A	UniProt
HHAT	Q5VTY9	p.Ser184Ile	rs1206506032	missense variant	-	NC_000001.11:g.210404546G>T	gnomAD
HHAT	Q5VTY9	p.Leu185Val	rs755225544	missense variant	-	NC_000001.11:g.210404548C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys188Arg	rs34228541	missense variant	-	NC_000001.11:g.210404557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu192Pro	rs955610159	missense variant	-	NC_000001.11:g.210404570T>C	TOPMed
HHAT	Q5VTY9	p.Pro193Arg	rs758432747	missense variant	-	NC_000001.11:g.210404573C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro193Leu	rs758432747	missense variant	-	NC_000001.11:g.210404573C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser196Leu	rs376601925	missense variant	-	NC_000001.11:g.210404582C>T	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr197Pro	rs1327760185	missense variant	-	NC_000001.11:g.210404584A>C	gnomAD
HHAT	Q5VTY9	p.Tyr199Cys	rs747455697	missense variant	-	NC_000001.11:g.210404591A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser200Pro	rs771340497	missense variant	-	NC_000001.11:g.210404593T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser200Phe	rs781614202	missense variant	-	NC_000001.11:g.210404594C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro202Ser	rs1219742764	missense variant	-	NC_000001.11:g.210404599C>T	gnomAD
HHAT	Q5VTY9	p.Ala206Thr	rs1234274214	missense variant	-	NC_000001.11:g.210404611G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr207Cys	rs1176162825	missense variant	-	NC_000001.11:g.210404615A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Tyr	rs769462211	missense variant	-	NC_000001.11:g.210404621T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Leu	rs1393561796	missense variant	-	NC_000001.11:g.210404622T>G	gnomAD
HHAT	Q5VTY9	p.Tyr210Ser	rs774960950	missense variant	-	NC_000001.11:g.210404624A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr210Cys	rs774960950	missense variant	-	NC_000001.11:g.210404624A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr210His	rs1459691356	missense variant	-	NC_000001.11:g.210404623T>C	gnomAD
HHAT	Q5VTY9	p.Tyr211His	rs1165960690	missense variant	-	NC_000001.11:g.210404626T>C	gnomAD
HHAT	Q5VTY9	p.Pro212Leu	rs768217049	missense variant	-	NC_000001.11:g.210404630C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.His215Arg	rs1443167558	missense variant	-	NC_000001.11:g.210404639A>G	gnomAD
HHAT	Q5VTY9	p.Asn216Ser	rs1048728289	missense variant	-	NC_000001.11:g.210404642A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe222Leu	rs147320835	missense variant	-	NC_000001.11:g.210404659T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser223Leu	rs767486877	missense variant	-	NC_000001.11:g.210404663C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu224Asp	rs965938188	missense variant	-	NC_000001.11:g.210404667G>C	gnomAD
HHAT	Q5VTY9	p.Phe225Val	rs750203730	missense variant	-	NC_000001.11:g.210404668T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys227Arg	rs1328074882	missense variant	-	NC_000001.11:g.210404675A>G	TOPMed
HHAT	Q5VTY9	p.Gln228Arg	rs1203362333	missense variant	-	NC_000001.11:g.210404678A>G	gnomAD
HHAT	Q5VTY9	p.Met229Leu	rs1394872962	missense variant	-	NC_000001.11:g.210418154A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Glu	rs749015922	missense variant	-	NC_000001.11:g.210418160C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Pro	rs778617403	missense variant	-	NC_000001.11:g.210418161A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gln231Lys	rs749015922	missense variant	-	NC_000001.11:g.210418160C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Ter	rs749015922	stop gained	-	NC_000001.11:g.210418160C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His234Tyr	rs1231520076	missense variant	-	NC_000001.11:g.210418169C>T	TOPMed
HHAT	Q5VTY9	p.Asp235Asn	rs771415014	missense variant	-	NC_000001.11:g.210418172G>A	ExAC
HHAT	Q5VTY9	p.Ser236Phe	rs773212620	missense variant	-	NC_000001.11:g.210418176C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu237Met	rs746907598	missense variant	-	NC_000001.11:g.210418178C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu241Gln	rs376960795	missense variant	-	NC_000001.11:g.210418191T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Tyr	rs374579980	missense variant	-	NC_000001.11:g.210418194G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys242Arg	rs200438732	missense variant	-	NC_000001.11:g.210418193T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Gly	rs200438732	missense variant	-	NC_000001.11:g.210418193T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val243Ala	rs1284891579	missense variant	-	NC_000001.11:g.210418197T>C	gnomAD
HHAT	Q5VTY9	p.Ala245Asp	rs764319347	missense variant	-	NC_000001.11:g.210418203C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Gly	rs764319347	missense variant	-	NC_000001.11:g.210418203C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Val	rs764319347	missense variant	-	NC_000001.11:g.210418203C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly247Arg	rs767440738	missense variant	-	NC_000001.11:g.210418208G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly249Ser	rs368531187	missense variant	-	NC_000001.11:g.210418214G>A	ESP,TOPMed
HHAT	Q5VTY9	p.Arg250Pro	rs148639278	missense variant	-	NC_000001.11:g.210418218G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250Cys	rs766891856	missense variant	-	NC_000001.11:g.210418217C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250His	rs148639278	missense variant	-	NC_000001.11:g.210418218G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp254Ter	rs987044311	stop gained	-	NC_000001.11:g.210418231G>A	TOPMed
HHAT	Q5VTY9	p.Trp254Ser	rs778740258	missense variant	-	NC_000001.11:g.210418230G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp255Leu	rs1021644358	missense variant	-	NC_000001.11:g.210418233G>T	gnomAD
HHAT	Q5VTY9	p.Trp255Ter	rs1021644358	stop gained	-	NC_000001.11:g.210418233G>A	gnomAD
HHAT	Q5VTY9	p.Trp256Ter	rs372024732	stop gained	-	NC_000001.11:g.210418237G>A	ESP,gnomAD
HHAT	Q5VTY9	p.Ala258Val	rs757984265	missense variant	-	NC_000001.11:g.210418242C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala258Thr	rs747743664	missense variant	-	NC_000001.11:g.210418241G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu259Lys	rs770748303	missense variant	-	NC_000001.11:g.210418244G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His263Gln	rs576213719	missense variant	-	NC_000001.11:g.210418258C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu264Met	rs745691529	missense variant	-	NC_000001.11:g.210418259C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu264Pro	rs769514962	missense variant	-	NC_000001.11:g.210418260T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met265Val	rs375086953	missense variant	-	NC_000001.11:g.210418262A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr266Asp	rs543648313	missense variant	-	NC_000001.11:g.210418265T>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr266Asn	rs543648313	missense variant	-	NC_000001.11:g.210418265T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Met267Ile	rs767706148	missense variant	-	NC_000001.11:g.210418270G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile270Phe	rs1274887070	missense variant	-	NC_000001.11:g.210418277A>T	gnomAD
HHAT	Q5VTY9	p.Tyr271Cys	rs1468755372	missense variant	-	NC_000001.11:g.210418281A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser273Asn	rs1408361995	missense variant	-	NC_000001.11:g.210418287G>A	gnomAD
HHAT	Q5VTY9	p.Leu276Ile	rs761293868	missense variant	-	NC_000001.11:g.210418295C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu276Val	rs761293868	missense variant	-	NC_000001.11:g.210418295C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu278Asp	rs561841936	missense variant	-	NC_000001.11:g.210418303G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys282Ser	rs754359000	missense variant	-	NC_000001.11:g.210418314G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys282Phe	rs754359000	missense variant	-	NC_000001.11:g.210418314G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly287Ter	rs1310390993	stop gained	-	NC_000001.11:g.210464507G>T	gnomAD
HHAT	Q5VTY9	p.Gly287Val	rs1173716957	missense variant	-	NC_000001.11:g.210464508G>T	TOPMed
HHAT	Q5VTY9	p.Leu288Val	rs1435982918	missense variant	-	NC_000001.11:g.210464510C>G	TOPMed
HHAT	Q5VTY9	p.Ala289Val	rs192286679	missense variant	-	NC_000001.11:g.210464514C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln292Arg	rs1475643148	missense variant	-	NC_000001.11:g.210464523A>G	TOPMed
HHAT	Q5VTY9	p.Val293Glu	rs1243613343	missense variant	-	NC_000001.11:g.210464526T>A	TOPMed
HHAT	Q5VTY9	p.Phe295Ser	rs1018558976	missense variant	-	NC_000001.11:g.210464532T>C	TOPMed
HHAT	Q5VTY9	p.Phe296Leu	rs1341668706	missense variant	-	NC_000001.11:g.210464536C>G	gnomAD
HHAT	Q5VTY9	p.Tyr297Cys	rs1487919886	missense variant	-	NC_000001.11:g.210464538A>G	TOPMed
HHAT	Q5VTY9	p.Val298Met	rs967141075	missense variant	-	NC_000001.11:g.210464540G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys299Gln	rs144173927	missense variant	-	NC_000001.11:g.210464543A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys299Thr	rs1181785857	missense variant	-	NC_000001.11:g.210464544A>C	gnomAD
HHAT	Q5VTY9	p.Tyr300His	rs756776629	missense variant	-	NC_000001.11:g.210464546T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr300Cys	rs541167454	missense variant	-	NC_000001.11:g.210464547A>G	TOPMed
HHAT	Q5VTY9	p.Val302Ala	rs780669166	missense variant	-	NC_000001.11:g.210464553T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Leu303Phe	rs1389201461	missense variant	-	NC_000001.11:g.210464555C>T	gnomAD
HHAT	Q5VTY9	p.Val306Met	rs779948186	missense variant	-	NC_000001.11:g.210464564G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val306Leu	rs779948186	missense variant	-	NC_000001.11:g.210464564G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro307Leu	rs749060244	missense variant	-	NC_000001.11:g.210464568C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu310Pro	rs1296554350	missense variant	-	NC_000001.11:g.210464577T>C	gnomAD
HHAT	Q5VTY9	p.Met311Thr	rs200901586	missense variant	-	NC_000001.11:g.210464580T>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Cys	rs777865030	missense variant	-	NC_000001.11:g.210464582C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312His	rs34362403	missense variant	-	NC_000001.11:g.210464583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Ser	rs777865030	missense variant	-	NC_000001.11:g.210464582C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp314Glu	rs1209434701	missense variant	-	NC_000001.11:g.210464590T>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp314Asn	rs1463422784	missense variant	-	NC_000001.11:g.210464588G>A	gnomAD
HHAT	Q5VTY9	p.Thr317Ile	rs771201072	missense variant	-	NC_000001.11:g.210464598C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr317Ala	rs1254789301	missense variant	-	NC_000001.11:g.210464597A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro318Leu	rs1026211141	missense variant	-	NC_000001.11:g.210464601C>T	TOPMed
HHAT	Q5VTY9	p.Pro319Ser	rs770442814	missense variant	-	NC_000001.11:g.210464603C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala320Ser	rs143700139	missense variant	-	NC_000001.11:g.210464606G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Thr	rs143700139	missense variant	-	NC_000001.11:g.210464606G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Pro	rs143700139	missense variant	-	NC_000001.11:g.210464606G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu321Phe	rs534915659	missense variant	-	NC_000001.11:g.210464609C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Pro322Ser	rs773936014	missense variant	-	NC_000001.11:g.210464612C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro322Leu	rs761454249	missense variant	-	NC_000001.11:g.210464613C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Ser	rs146916002	missense variant	-	NC_000001.11:g.210464615C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Cys	rs146916002	missense variant	-	NC_000001.11:g.210464615C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323His	rs749916241	missense variant	-	NC_000001.11:g.210464616G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val325Met	rs766259679	missense variant	-	NC_000001.11:g.210464621G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser326Asn	rs1310979158	missense variant	-	NC_000001.11:g.210464625G>A	gnomAD
HHAT	Q5VTY9	p.Ser326Arg	rs1305915605	missense variant	-	NC_000001.11:g.210464624A>C	gnomAD
HHAT	Q5VTY9	p.Thr327Ala	rs753743106	missense variant	-	NC_000001.11:g.210464627A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met328Ile	rs369156629	missense variant	-	NC_000001.11:g.210464632G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Gly	rs1319305222	missense variant	-	NC_000001.11:g.210464636A>G	gnomAD
HHAT	Q5VTY9	p.Ser330Thr	rs778762203	missense variant	-	NC_000001.11:g.210464637G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Asn	rs778762203	missense variant	-	NC_000001.11:g.210464637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr332Ile	rs1267974210	missense variant	-	NC_000001.11:g.210464643C>T	gnomAD
HHAT	Q5VTY9	p.Gly333Arg	rs61744143	missense variant	-	NC_000001.11:g.210464645G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Val	rs1477472411	missense variant	-	NC_000001.11:g.210464648A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Lys	rs1418277029	missense variant	-	NC_000001.11:g.210464649T>A	TOPMed
HHAT	Q5VTY9	p.Met334Leu	rs1477472411	missense variant	-	NC_000001.11:g.210464648A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg336Ser	rs774794788	missense variant	-	NC_000001.11:g.210513153G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr337His	rs1480552168	missense variant	-	NC_000001.11:g.210513154T>C	TOPMed
HHAT	Q5VTY9	p.Asp339Glu	rs1486645557	missense variant	-	NC_000001.11:g.210513162T>A	gnomAD
HHAT	Q5VTY9	p.Val340Ala	rs1236766012	missense variant	-	NC_000001.11:g.210513164T>C	gnomAD
HHAT	Q5VTY9	p.Val340Ile	rs748544351	missense variant	-	NC_000001.11:g.210513163G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His343Tyr	rs1471698324	missense variant	-	NC_000001.11:g.210513172C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg348Thr	rs1430616111	missense variant	-	NC_000001.11:g.210513188G>C	gnomAD
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	NC_000001.11:g.210587898G>C	TOPMed
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	NC_000001.11:g.210587898G>T	TOPMed
HHAT	Q5VTY9	p.Val350Glu	rs529893253	missense variant	-	NC_000001.11:g.210587903T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr351Cys	rs1413244904	missense variant	-	NC_000001.11:g.210587906A>G	gnomAD
HHAT	Q5VTY9	p.Ile352Leu	rs778078227	missense variant	-	NC_000001.11:g.210587908A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile352Val	rs778078227	missense variant	-	NC_000001.11:g.210587908A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro353Ser	rs746687297	missense variant	-	NC_000001.11:g.210587911C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly355Ser	rs768820197	missense variant	-	NC_000001.11:g.210587917G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly356Arg	rs776106560	missense variant	-	NC_000001.11:g.210587920G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser357Cys	rs1336939401	missense variant	-	NC_000001.11:g.210587924C>G	TOPMed
HHAT	Q5VTY9	p.Gln358Arg	rs1331461975	missense variant	-	NC_000001.11:g.210587927A>G	TOPMed
HHAT	Q5VTY9	p.His359Tyr	rs1390109673	missense variant	-	NC_000001.11:g.210587929C>T	TOPMed
HHAT	Q5VTY9	p.Leu361Met	rs775624263	missense variant	-	NC_000001.11:g.210587935C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu362Arg	rs1189204348	missense variant	-	NC_000001.11:g.210587939T>G	gnomAD
HHAT	Q5VTY9	p.Leu365Arg	rs1472183131	missense variant	-	NC_000001.11:g.210587948T>G	TOPMed
HHAT	Q5VTY9	p.Leu365Val	rs1206534082	missense variant	-	NC_000001.11:g.210587947C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	NC_000001.11:g.210587952T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	NC_000001.11:g.210587952T>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr368Met	rs761470224	missense variant	-	NC_000001.11:g.210587957C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala369Thr	rs1250855428	missense variant	-	NC_000001.11:g.210587959G>A	TOPMed
HHAT	Q5VTY9	p.Ala369Val	rs753942041	missense variant	-	NC_000001.11:g.210587960C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met370Val	rs753271439	missense variant	-	NC_000001.11:g.210587962A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Ile	rs761768543	missense variant	-	NC_000001.11:g.210587964G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Leu	rs753271439	missense variant	-	NC_000001.11:g.210587962A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ile	rs149597734	missense variant	-	NC_000001.11:g.210587966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr371Ala	rs778202949	missense variant	-	NC_000001.11:g.210587965A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe372Cys	rs771134636	missense variant	-	NC_000001.11:g.210587969T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Ser	rs771134636	missense variant	-	NC_000001.11:g.210587969T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Tyr	rs771134636	missense variant	-	NC_000001.11:g.210587969T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala373Thr	rs780907560	missense variant	-	NC_000001.11:g.210587971G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr377Cys	rs745491597	missense variant	-	NC_000001.11:g.210587984A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Gly	rs75379612	missense variant	-	NC_000001.11:g.210587986T>G	gnomAD
HHAT	Q5VTY9	p.Trp378Ter	rs1350371972	stop gained	-	NC_000001.11:g.210587987G>A	TOPMed
HHAT	Q5VTY9	p.Trp378Cys	rs769492158	missense variant	-	NC_000001.11:g.210587988G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.His379Arg	rs1407130052	missense variant	-	NC_000001.11:g.210587990A>G	TOPMed
HHAT	Q5VTY9	p.His379Tyr	rs191150462	missense variant	-	NC_000001.11:g.210587989C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly380Ser	rs1319221366	missense variant	-	NC_000001.11:g.210587992G>A	gnomAD
HHAT	Q5VTY9	p.Gly381Ser	rs755024350	missense variant	-	NC_000001.11:g.210587995G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr382His	rs1210658100	missense variant	-	NC_000001.11:g.210587998T>C	gnomAD
HHAT	Q5VTY9	p.Asp383Asn	rs537432647	missense variant	-	NC_000001.11:g.210588001G>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Gly	rs148696006	missense variant	-	NC_000001.11:g.210588002A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Ala	rs148696006	missense variant	-	NC_000001.11:g.210588002A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Glu	rs1471597942	missense variant	-	NC_000001.11:g.210588003C>G	TOPMed
HHAT	Q5VTY9	p.Leu385Phe	rs1253211468	missense variant	-	NC_000001.11:g.210588007C>T	gnomAD
HHAT	Q5VTY9	p.Leu385Pro	rs1472535776	missense variant	-	NC_000001.11:g.210588008T>C	gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	NC_000001.11:g.210588012G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	NC_000001.11:g.210588012G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys387Gly	rs1286369938	missense variant	-	NC_000001.11:g.210588013T>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys387Tyr	rs958275249	missense variant	-	NC_000001.11:g.210588014G>A	TOPMed
HHAT	Q5VTY9	p.Trp388Ter	rs759676083	stop gained	-	NC_000001.11:g.210588018G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala389Thr	rs765348085	missense variant	-	NC_000001.11:g.210588019G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala390Glu	rs139134333	missense variant	-	NC_000001.11:g.210588023C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala390Val	rs139134333	missense variant	-	NC_000001.11:g.210588023C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu391Phe	rs1308080230	missense variant	-	NC_000001.11:g.210588025C>T	gnomAD
HHAT	Q5VTY9	p.Leu391Pro	rs1447758274	missense variant	-	NC_000001.11:g.210588026T>C	TOPMed
HHAT	Q5VTY9	p.Asn392Ser	rs145501609	missense variant	-	NC_000001.11:g.210588029A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn392Lys	rs781404828	missense variant	-	NC_000001.11:g.210588030C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp393Ter	rs745572125	stop gained	-	NC_000001.11:g.210588033G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly395Glu	rs1041130066	missense variant	-	NC_000001.11:g.210588038G>A	TOPMed
HHAT	Q5VTY9	p.Val396Ile	rs1329136878	missense variant	-	NC_000001.11:g.210588040G>A	TOPMed
HHAT	Q5VTY9	p.Thr397Ala	rs201464164	missense variant	-	NC_000001.11:g.210588043A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu399Gly	rs1354462659	missense variant	-	NC_000001.11:g.210588050A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ser	rs528513055	missense variant	-	NC_000001.11:g.210588053A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ile	rs528513055	missense variant	-	NC_000001.11:g.210588053A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly401Arg	rs1435366590	missense variant	-	NC_000001.11:g.210588055G>A	TOPMed
HHAT	Q5VTY9	p.Val402Ala	rs147691760	missense variant	-	NC_000001.11:g.210588059T>C	ESP,gnomAD
HHAT	Q5VTY9	p.Arg403Gln	rs368498838	missense variant	-	NC_000001.11:g.210588062G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg403Trp	rs144274904	missense variant	-	NC_000001.11:g.210588061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val406Ala	rs1387194915	missense variant	-	NC_000001.11:g.210588071T>C	TOPMed
HHAT	Q5VTY9	p.Glu407Lys	rs772854695	missense variant	-	NC_000001.11:g.210588073G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr408Ile	rs760410532	missense variant	-	NC_000001.11:g.210588077C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro409Thr	rs765471482	missense variant	-	NC_000001.11:g.210588079C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro409Ala	rs765471482	missense variant	-	NC_000001.11:g.210588079C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp413Ala	rs1190379715	missense variant	-	NC_000001.11:g.210588092A>C	TOPMed
HHAT	Q5VTY9	p.Ser414Arg	rs572645178	missense variant	-	NC_000001.11:g.210588094A>C	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Ala416Thr	rs1274596916	missense variant	-	NC_000001.11:g.210623526G>A	TOPMed
HHAT	Q5VTY9	p.Arg417Gln	rs372287242	missense variant	-	NC_000001.11:g.210623530G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg417Ter	rs767942183	stop gained	-	NC_000001.11:g.210623529C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr418Ter	rs761135455	stop gained	-	NC_000001.11:g.210623534C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser420Thr	rs1400124587	missense variant	-	NC_000001.11:g.210623538T>A	TOPMed
HHAT	Q5VTY9	p.Pro421Leu	rs766841031	missense variant	-	NC_000001.11:g.210623542C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln422Arg	rs147869616	missense variant	-	NC_000001.11:g.210623545A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424Cys	rs778537110	missense variant	-	NC_000001.11:g.210623550C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg424His	rs752178549	missense variant	-	NC_000001.11:g.210623551G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg425His	rs777581246	missense variant	-	NC_000001.11:g.210623554G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg425Cys	rs367896407	missense variant	-	NC_000001.11:g.210623553C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Gln	rs371790765	missense variant	-	NC_000001.11:g.210623557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Leu	rs371790765	missense variant	-	NC_000001.11:g.210623557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs770778775	missense variant	-	NC_000001.11:g.210623559T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	NC_000001.11:g.210623561C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	NC_000001.11:g.210623561C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His428Tyr	rs1267872556	missense variant	-	NC_000001.11:g.210623562C>T	gnomAD
HHAT	Q5VTY9	p.Ala429Thr	rs376491664	missense variant	-	NC_000001.11:g.210623565G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala430Thr	rs1020683342	missense variant	-	NC_000001.11:g.210623568G>A	TOPMed
HHAT	Q5VTY9	p.Ala430Val	rs1246866620	missense variant	-	NC_000001.11:g.210623569C>T	gnomAD
HHAT	Q5VTY9	p.Leu431Phe	rs772132903	missense variant	-	NC_000001.11:g.210623571C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu431Val	rs772132903	missense variant	-	NC_000001.11:g.210623571C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu431Arg	rs1327162202	missense variant	-	NC_000001.11:g.210623572T>G	gnomAD
HHAT	Q5VTY9	p.Ser433Cys	rs1202168184	missense variant	-	NC_000001.11:g.210623578C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr436Ile	rs952228974	missense variant	-	NC_000001.11:g.210623587C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Leu	rs113371678	missense variant	-	NC_000001.11:g.210623590C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Trp	rs113371678	missense variant	-	NC_000001.11:g.210623590C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile440Ser	rs202236243	missense variant	-	NC_000001.11:g.210623599T>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn443Ser	rs759902169	missense variant	-	NC_000001.11:g.210623608A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu444Met	rs764798520	missense variant	-	NC_000001.11:g.210623610C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe446Leu	rs761804644	missense variant	-	NC_000001.11:g.210623616T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu447Pro	rs751537022	missense variant	-	NC_000001.11:g.210623620T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Gly448Glu	rs757163023	missense variant	-	NC_000001.11:g.210623623G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly448Arg	rs1288194139	missense variant	-	NC_000001.11:g.210623622G>A	gnomAD
HHAT	Q5VTY9	p.Gly449Asp	rs112551598	missense variant	-	NC_000001.11:g.210623626G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450His	rs1236467255	missense variant	-	NC_000001.11:g.210623628A>C	TOPMed
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	NC_000001.11:g.210623629A>G	UniProt,dbSNP
HHAT	Q5VTY9	p.Asn450Ser	VAR_024745	missense variant	-	NC_000001.11:g.210623629A>G	UniProt
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	NC_000001.11:g.210623629A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly453Val	rs544741245	missense variant	-	NC_000001.11:g.210623638G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Gly453Arg	rs779017166	missense variant	-	NC_000001.11:g.210623637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr455Ser	rs1231046147	missense variant	-	NC_000001.11:g.210623644C>G	gnomAD
HHAT	Q5VTY9	p.Thr455Ala	rs1181369040	missense variant	-	NC_000001.11:g.210623643A>G	gnomAD
HHAT	Q5VTY9	p.Tyr456His	rs772114026	missense variant	-	NC_000001.11:g.210623646T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp457Ter	rs773398217	stop gained	-	NC_000001.11:g.210623651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Asn458Thr	rs1414852061	missense variant	-	NC_000001.11:g.210623653A>C	gnomAD
HHAT	Q5VTY9	p.Arg459Gly	rs1404967475	missense variant	-	NC_000001.11:g.210623655A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile460Met	rs1161817788	missense variant	-	NC_000001.11:g.210623660C>G	gnomAD
HHAT	Q5VTY9	p.Phe461Val	rs747570787	missense variant	-	NC_000001.11:g.210623661T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile462Val	rs372765603	missense variant	-	NC_000001.11:g.210623664A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln463His	rs759828685	missense variant	-	NC_000001.11:g.210623669A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly464Ala	rs1473013625	missense variant	-	NC_000001.11:g.210674288G>C	gnomAD
HHAT	Q5VTY9	p.Gly464Arg	rs765617712	missense variant	-	NC_000001.11:g.210623670G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly464Ser	rs765617712	missense variant	-	NC_000001.11:g.210623670G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ala	rs1162782214	missense variant	-	NC_000001.11:g.210674293C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ser	rs1162782214	missense variant	-	NC_000001.11:g.210674293C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp467Ter	rs766141146	stop gained	-	NC_000001.11:g.210674298G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser471Pro	rs1341787711	missense variant	-	NC_000001.11:g.210674308T>C	TOPMed
HHAT	Q5VTY9	p.Tyr479Cys	rs1389282522	missense variant	-	NC_000001.11:g.210674333A>G	gnomAD
HHAT	Q5VTY9	p.Ser480Phe	rs778151421	missense variant	-	NC_000001.11:g.210674336C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Val482Met	rs200853402	missense variant	-	NC_000001.11:g.210674341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile484Thr	rs781297562	missense variant	-	NC_000001.11:g.210674348T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile484Val	rs1489287557	missense variant	-	NC_000001.11:g.210674347A>G	gnomAD
HHAT	Q5VTY9	p.Trp486Leu	rs145943928	missense variant	-	NC_000001.11:g.210674354G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala487Thr	rs977412599	missense variant	-	NC_000001.11:g.210674356G>A	TOPMed
HHAT	Q5VTY9	p.Thr489Asn	rs770356363	missense variant	-	NC_000001.11:g.210674363C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr489Ile	rs770356363	missense variant	-	NC_000001.11:g.210674363C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala491Val	rs1194243455	missense variant	-	NC_000001.11:g.210674369C>T	gnomAD
HHAT	Q5VTY9	p.Ala491Thr	rs749666736	missense variant	-	NC_000001.11:g.210674368G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr492Met	rs148466987	missense variant	-	NC_000001.11:g.210674372C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Asn	rs200680141	missense variant	-	NC_000001.11:g.210674374G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Glu	rs1258511865	missense variant	-	NC_000001.11:g.210674376C>G	TOPMed
HHAT	Q5VTY9	p.Met1Leu	RCV000624001	missense variant	Inborn genetic diseases	NC_000001.11:g.210348976A>T	ClinVar
HHAT	Q5VTY9	p.Leu2Val	rs750211206	missense variant	-	NC_000001.11:g.210348979C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gly	rs779025178	missense variant	-	NC_000001.11:g.210348985C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg4Ter	rs779025178	stop gained	-	NC_000001.11:g.210348985C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg4Gln	rs758421766	missense variant	-	NC_000001.11:g.210348986G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp5Arg	rs777897235	missense variant	-	NC_000001.11:g.210348988T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu6Lys	rs747583836	missense variant	-	NC_000001.11:g.210348991G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala8Thr	rs150162144	missense variant	-	NC_000001.11:g.210348997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu9Phe	rs143903658	missense variant	-	NC_000001.11:g.210349000C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu9Ile	rs143903658	missense variant	-	NC_000001.11:g.210349000C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu12Val	rs1321878496	missense variant	-	NC_000001.11:g.210349009C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala13Val	rs775006103	missense variant	-	NC_000001.11:g.210349013C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Val	rs763566623	missense variant	-	NC_000001.11:g.210349024T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Leu	rs141741088	missense variant	-	NC_000001.11:g.210349026C>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe19Leu	rs761879800	missense variant	-	NC_000001.11:g.210349030T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr20Cys	rs1183312420	missense variant	-	NC_000001.11:g.210349034A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr23Cys	rs138327418	missense variant	-	NC_000001.11:g.210349043A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Cys	rs756004234	missense variant	-	NC_000001.11:g.210349052A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Phe	rs756004234	missense variant	-	NC_000001.11:g.210349052A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys27Arg	rs1454105739	missense variant	-	NC_000001.11:g.210349055A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser29Cys	rs752918841	missense variant	-	NC_000001.11:g.210349061C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu31Asp	rs186282077	missense variant	-	NC_000001.11:g.210362853A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu33Lys	rs751737702	missense variant	-	NC_000001.11:g.210362857G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu34Lys	rs1217467814	missense variant	-	NC_000001.11:g.210362860G>A	gnomAD
HHAT	Q5VTY9	p.Asp37Glu	rs1241555812	missense variant	-	NC_000001.11:g.210362871C>A	gnomAD
HHAT	Q5VTY9	p.Glu39Lys	rs1485201545	missense variant	-	NC_000001.11:g.210362875G>A	gnomAD
HHAT	Q5VTY9	p.Phe40Leu	rs144245212	missense variant	-	NC_000001.11:g.210362880T>A	ESP,TOPMed
HHAT	Q5VTY9	p.Leu42Pro	rs1426396610	missense variant	-	NC_000001.11:g.210362885T>C	gnomAD
HHAT	Q5VTY9	p.Thr46Ala	rs757329992	missense variant	-	NC_000001.11:g.210362896A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr46Ser	rs1251088486	missense variant	-	NC_000001.11:g.210362897C>G	TOPMed
HHAT	Q5VTY9	p.Phe48Cys	rs201701816	missense variant	-	NC_000001.11:g.210362903T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Tyr	rs201701816	missense variant	-	NC_000001.11:g.210362903T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Ser	rs201701816	missense variant	-	NC_000001.11:g.210362903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly49Arg	rs141591165	missense variant	-	NC_000001.11:g.210362905G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly50Arg	rs756643679	missense variant	-	NC_000001.11:g.210362908G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly50Ter	rs756643679	stop gained	-	NC_000001.11:g.210362908G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys53Glu	rs1438602469	missense variant	-	NC_000001.11:g.210362917A>G	gnomAD
HHAT	Q5VTY9	p.Asp54Asn	rs777471907	missense variant	-	NC_000001.11:g.210387468G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Asp54Val	rs746548984	missense variant	-	NC_000001.11:g.210387469A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala55Val	rs139380328	missense variant	-	NC_000001.11:g.210387472C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr56Asn	rs867091715	missense variant	-	NC_000001.11:g.210387475C>A	TOPMed
HHAT	Q5VTY9	p.Asp57Asn	rs1172717093	missense variant	-	NC_000001.11:g.210387477G>A	gnomAD
HHAT	Q5VTY9	p.Trp60Ter	rs762065926	stop gained	-	NC_000001.11:g.210387487G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp60Arg	rs1326549428	missense variant	-	NC_000001.11:g.210387486T>C	gnomAD
HHAT	Q5VTY9	p.Phe62Ile	rs558364465	missense variant	-	NC_000001.11:g.210387492T>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met64Val	rs773260603	missense variant	-	NC_000001.11:g.210387498A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu65Lys	rs760841342	missense variant	-	NC_000001.11:g.210387501G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp66Ter	rs1280659233	stop gained	-	NC_000001.11:g.210387505G>A	gnomAD
HHAT	Q5VTY9	p.Gln69Arg	rs754382840	missense variant	-	NC_000001.11:g.210387514A>G	ExAC
HHAT	Q5VTY9	p.Gln69Ter	rs1195612827	stop gained	-	NC_000001.11:g.210387513C>T	gnomAD
HHAT	Q5VTY9	p.Val72Glu	rs78052077	missense variant	-	NC_000001.11:g.210387523T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val72Gly	rs78052077	missense variant	-	NC_000001.11:g.210387523T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val72Leu	rs1188728045	missense variant	-	NC_000001.11:g.210387522G>T	TOPMed
HHAT	Q5VTY9	p.Trp73Cys	rs758785739	missense variant	-	NC_000001.11:g.210387527G>T	ExAC
HHAT	Q5VTY9	p.Trp73Gly	rs753087963	missense variant	-	NC_000001.11:g.210387525T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu74Val	rs1473937850	missense variant	-	NC_000001.11:g.210387528C>G	gnomAD
HHAT	Q5VTY9	p.Leu75Phe	rs777596666	missense variant	-	NC_000001.11:g.210387531C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Met79Ile	rs1373594134	missense variant	-	NC_000001.11:g.210387545G>A	gnomAD
HHAT	Q5VTY9	p.Met79Thr	rs746572782	missense variant	-	NC_000001.11:g.210387544T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Val80Ile	rs1475019815	missense variant	-	NC_000001.11:g.210387546G>A	gnomAD
HHAT	Q5VTY9	p.Val81Glu	rs756801763	missense variant	-	NC_000001.11:g.210387550T>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val81Met	rs1165981815	missense variant	-	NC_000001.11:g.210387549G>A	gnomAD
HHAT	Q5VTY9	p.Thr86Pro	rs192652993	missense variant	-	NC_000001.11:g.210387564A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg90Gly	rs769691809	missense variant	-	NC_000001.11:g.210387576A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.His92Arg	rs1169086872	missense variant	-	NC_000001.11:g.210400469A>G	gnomAD
HHAT	Q5VTY9	p.Pro94Arg	rs774003816	missense variant	-	NC_000001.11:g.210400475C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro94His	rs774003816	missense variant	-	NC_000001.11:g.210400475C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile96Ser	rs1269395595	missense variant	-	NC_000001.11:g.210400481T>G	gnomAD
HHAT	Q5VTY9	p.Tyr100Cys	rs1192812979	missense variant	-	NC_000001.11:g.210400493A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly101Arg	rs776861325	missense variant	-	NC_000001.11:g.210400495G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met102Leu	rs769924809	missense variant	-	NC_000001.11:g.210400498A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met102Thr	rs1335123292	missense variant	-	NC_000001.11:g.210400499T>C	TOPMed
HHAT	Q5VTY9	p.Cys105Tyr	rs1364527782	missense variant	-	NC_000001.11:g.210400508G>A	gnomAD
HHAT	Q5VTY9	p.Trp106Cys	rs1453153427	missense variant	-	NC_000001.11:g.210400512G>T	gnomAD
HHAT	Q5VTY9	p.Cys107Phe	rs1156840610	missense variant	-	NC_000001.11:g.210400514G>T	gnomAD
HHAT	Q5VTY9	p.Val108Leu	rs763536701	missense variant	-	NC_000001.11:g.210400516G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly110Arg	rs1307835291	missense variant	-	NC_000001.11:g.210400522G>A	gnomAD
HHAT	Q5VTY9	p.Thr111Asn	rs751842969	missense variant	-	NC_000001.11:g.210400526C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro112Leu	rs145455128	missense variant	-	NC_000001.11:g.210400529C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala115Asp	rs1046862949	missense variant	-	NC_000001.11:g.210400538C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met116Val	rs199828596	missense variant	-	NC_000001.11:g.210400540A>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His120Tyr	rs1231178551	missense variant	-	NC_000001.11:g.210400552C>T	gnomAD
HHAT	Q5VTY9	p.Thr122Ile	rs1212970048	missense variant	-	NC_000001.11:g.210400559C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr122Ala	rs941269680	missense variant	-	NC_000001.11:g.210400558A>G	TOPMed
HHAT	Q5VTY9	p.Ser124Cys	rs1271102309	missense variant	-	NC_000001.11:g.210400565C>G	gnomAD
HHAT	Q5VTY9	p.Ser124Phe	rs1271102309	missense variant	-	NC_000001.11:g.210400565C>T	gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	NC_000001.11:g.210400569C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	NC_000001.11:g.210400569C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys126Gly	rs753831505	missense variant	-	NC_000001.11:g.210400570T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Val127Met	rs375839407	missense variant	-	NC_000001.11:g.210400573G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala128Thr	rs1475853230	missense variant	-	NC_000001.11:g.210400576G>A	gnomAD
HHAT	Q5VTY9	p.Gln129His	rs545915563	missense variant	-	NC_000001.11:g.210400581G>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln129Arg	rs141306397	missense variant	-	NC_000001.11:g.210400580A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe130Cys	rs781566798	missense variant	-	NC_000001.11:g.210400583T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe130Leu	rs746026575	missense variant	-	NC_000001.11:g.210400584C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg131Pro	rs370012146	missense variant	-	NC_000001.11:g.210400586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Trp	rs138752308	missense variant	-	NC_000001.11:g.210400585C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Gln	rs370012146	missense variant	-	NC_000001.11:g.210400586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln133Ter	rs1440623661	stop gained	-	NC_000001.11:g.210400591C>T	TOPMed
HHAT	Q5VTY9	p.Thr136Met	rs376054556	missense variant	-	NC_000001.11:g.210400601C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr136Lys	rs376054556	missense variant	-	NC_000001.11:g.210400601C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr136Ala	rs769025548	missense variant	-	NC_000001.11:g.210400600A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp137Cys	rs767857766	missense variant	-	NC_000001.11:g.210400605G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys139Arg	rs750090558	missense variant	-	NC_000001.11:g.210400609T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser140Cys	rs760308081	missense variant	-	NC_000001.11:g.210400613C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr146Ala	rs765941795	missense variant	-	NC_000001.11:g.210400630A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr146Ile	rs200772379	missense variant	-	NC_000001.11:g.210400631C>T	TOPMed
HHAT	Q5VTY9	p.Gly151Ser	rs374495612	missense variant	-	NC_000001.11:g.210400645G>A	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu153Lys	rs753322887	missense variant	-	NC_000001.11:g.210400651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val155Ile	rs754462235	missense variant	-	NC_000001.11:g.210400657G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg157Thr	rs1055755703	missense variant	-	NC_000001.11:g.210404465G>C	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys161Gln	rs764017113	missense variant	-	NC_000001.11:g.210404476A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn164Asp	rs748514239	missense variant	-	NC_000001.11:g.210404485A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu165Lys	rs374048677	missense variant	-	NC_000001.11:g.210404488G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr172Met	rs139483274	missense variant	-	NC_000001.11:g.210404510C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu173Met	rs924597283	missense variant	-	NC_000001.11:g.210404512C>A	-
HHAT	Q5VTY9	p.Thr174Ser	rs1365991028	missense variant	-	NC_000001.11:g.210404515A>T	gnomAD
HHAT	Q5VTY9	p.Thr174Ile	rs747405504	missense variant	-	NC_000001.11:g.210404516C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Val175Ile	rs776159715	missense variant	-	NC_000001.11:g.210404518G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg176His	rs145435771	missense variant	-	NC_000001.11:g.210404522G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176Cys	rs567439002	missense variant	-	NC_000001.11:g.210404521C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176Leu	rs145435771	missense variant	-	NC_000001.11:g.210404522G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys177Tyr	rs775030191	missense variant	-	NC_000001.11:g.210404525G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu178Val	rs1374615080	missense variant	-	NC_000001.11:g.210404527C>G	TOPMed
HHAT	Q5VTY9	p.Tyr179Cys	rs535833711	missense variant	-	NC_000001.11:g.210404531A>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr181Asn	rs765901690	missense variant	-	NC_000001.11:g.210404537C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr181Ile	rs765901690	missense variant	-	NC_000001.11:g.210404537C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	NC_000001.11:g.210404540G>A	UniProt,dbSNP
HHAT	Q5VTY9	p.Ser182Asn	VAR_024743	missense variant	-	NC_000001.11:g.210404540G>A	UniProt
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	NC_000001.11:g.210404540G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser184Ile	rs1206506032	missense variant	-	NC_000001.11:g.210404546G>T	gnomAD
HHAT	Q5VTY9	p.Leu185Val	rs755225544	missense variant	-	NC_000001.11:g.210404548C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys188Arg	rs34228541	missense variant	-	NC_000001.11:g.210404557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu192Pro	rs955610159	missense variant	-	NC_000001.11:g.210404570T>C	TOPMed
HHAT	Q5VTY9	p.Pro193Arg	rs758432747	missense variant	-	NC_000001.11:g.210404573C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro193Leu	rs758432747	missense variant	-	NC_000001.11:g.210404573C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser196Leu	rs376601925	missense variant	-	NC_000001.11:g.210404582C>T	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr197Pro	rs1327760185	missense variant	-	NC_000001.11:g.210404584A>C	gnomAD
HHAT	Q5VTY9	p.Tyr199Cys	rs747455697	missense variant	-	NC_000001.11:g.210404591A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser200Pro	rs771340497	missense variant	-	NC_000001.11:g.210404593T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser200Phe	rs781614202	missense variant	-	NC_000001.11:g.210404594C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro202Ser	rs1219742764	missense variant	-	NC_000001.11:g.210404599C>T	gnomAD
HHAT	Q5VTY9	p.Ala206Thr	rs1234274214	missense variant	-	NC_000001.11:g.210404611G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr207Cys	rs1176162825	missense variant	-	NC_000001.11:g.210404615A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Tyr	rs769462211	missense variant	-	NC_000001.11:g.210404621T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Leu	rs1393561796	missense variant	-	NC_000001.11:g.210404622T>G	gnomAD
HHAT	Q5VTY9	p.Tyr210Cys	rs774960950	missense variant	-	NC_000001.11:g.210404624A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr210His	rs1459691356	missense variant	-	NC_000001.11:g.210404623T>C	gnomAD
HHAT	Q5VTY9	p.Tyr210Ser	rs774960950	missense variant	-	NC_000001.11:g.210404624A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr211His	rs1165960690	missense variant	-	NC_000001.11:g.210404626T>C	gnomAD
HHAT	Q5VTY9	p.Pro212Leu	rs768217049	missense variant	-	NC_000001.11:g.210404630C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.His215Arg	rs1443167558	missense variant	-	NC_000001.11:g.210404639A>G	gnomAD
HHAT	Q5VTY9	p.Asn216Ser	rs1048728289	missense variant	-	NC_000001.11:g.210404642A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe222Leu	rs147320835	missense variant	-	NC_000001.11:g.210404659T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser223Leu	rs767486877	missense variant	-	NC_000001.11:g.210404663C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu224Asp	rs965938188	missense variant	-	NC_000001.11:g.210404667G>C	gnomAD
HHAT	Q5VTY9	p.Phe225Val	rs750203730	missense variant	-	NC_000001.11:g.210404668T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys227Arg	rs1328074882	missense variant	-	NC_000001.11:g.210404675A>G	TOPMed
HHAT	Q5VTY9	p.Gln228Arg	rs1203362333	missense variant	-	NC_000001.11:g.210404678A>G	gnomAD
HHAT	Q5VTY9	p.Met229Leu	rs1394872962	missense variant	-	NC_000001.11:g.210418154A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Lys	rs749015922	missense variant	-	NC_000001.11:g.210418160C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Ter	rs749015922	stop gained	-	NC_000001.11:g.210418160C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Glu	rs749015922	missense variant	-	NC_000001.11:g.210418160C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Pro	rs778617403	missense variant	-	NC_000001.11:g.210418161A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.His234Tyr	rs1231520076	missense variant	-	NC_000001.11:g.210418169C>T	TOPMed
HHAT	Q5VTY9	p.Asp235Asn	rs771415014	missense variant	-	NC_000001.11:g.210418172G>A	ExAC
HHAT	Q5VTY9	p.Ser236Phe	rs773212620	missense variant	-	NC_000001.11:g.210418176C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu237Met	rs746907598	missense variant	-	NC_000001.11:g.210418178C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu241Gln	rs376960795	missense variant	-	NC_000001.11:g.210418191T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Tyr	rs374579980	missense variant	-	NC_000001.11:g.210418194G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys242Gly	rs200438732	missense variant	-	NC_000001.11:g.210418193T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Arg	rs200438732	missense variant	-	NC_000001.11:g.210418193T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val243Ala	rs1284891579	missense variant	-	NC_000001.11:g.210418197T>C	gnomAD
HHAT	Q5VTY9	p.Ala245Gly	rs764319347	missense variant	-	NC_000001.11:g.210418203C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Val	rs764319347	missense variant	-	NC_000001.11:g.210418203C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Asp	rs764319347	missense variant	-	NC_000001.11:g.210418203C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly247Arg	rs767440738	missense variant	-	NC_000001.11:g.210418208G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly249Ser	rs368531187	missense variant	-	NC_000001.11:g.210418214G>A	ESP,TOPMed
HHAT	Q5VTY9	p.Arg250His	rs148639278	missense variant	-	NC_000001.11:g.210418218G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250Cys	rs766891856	missense variant	-	NC_000001.11:g.210418217C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250Pro	rs148639278	missense variant	-	NC_000001.11:g.210418218G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp254Ser	rs778740258	missense variant	-	NC_000001.11:g.210418230G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp254Ter	rs987044311	stop gained	-	NC_000001.11:g.210418231G>A	TOPMed
HHAT	Q5VTY9	p.Trp255Ter	rs1021644358	stop gained	-	NC_000001.11:g.210418233G>A	gnomAD
HHAT	Q5VTY9	p.Trp255Leu	rs1021644358	missense variant	-	NC_000001.11:g.210418233G>T	gnomAD
HHAT	Q5VTY9	p.Trp256Ter	rs372024732	stop gained	-	NC_000001.11:g.210418237G>A	ESP,gnomAD
HHAT	Q5VTY9	p.Ala258Thr	rs747743664	missense variant	-	NC_000001.11:g.210418241G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala258Val	rs757984265	missense variant	-	NC_000001.11:g.210418242C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu259Lys	rs770748303	missense variant	-	NC_000001.11:g.210418244G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His263Gln	rs576213719	missense variant	-	NC_000001.11:g.210418258C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu264Pro	rs769514962	missense variant	-	NC_000001.11:g.210418260T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu264Met	rs745691529	missense variant	-	NC_000001.11:g.210418259C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met265Val	rs375086953	missense variant	-	NC_000001.11:g.210418262A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr266Asn	rs543648313	missense variant	-	NC_000001.11:g.210418265T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr266Asp	rs543648313	missense variant	-	NC_000001.11:g.210418265T>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Met267Ile	rs767706148	missense variant	-	NC_000001.11:g.210418270G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile270Phe	rs1274887070	missense variant	-	NC_000001.11:g.210418277A>T	gnomAD
HHAT	Q5VTY9	p.Tyr271Cys	rs1468755372	missense variant	-	NC_000001.11:g.210418281A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser273Asn	rs1408361995	missense variant	-	NC_000001.11:g.210418287G>A	gnomAD
HHAT	Q5VTY9	p.Leu276Val	rs761293868	missense variant	-	NC_000001.11:g.210418295C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu276Ile	rs761293868	missense variant	-	NC_000001.11:g.210418295C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu278Asp	rs561841936	missense variant	-	NC_000001.11:g.210418303G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys282Ser	rs754359000	missense variant	-	NC_000001.11:g.210418314G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys282Phe	rs754359000	missense variant	-	NC_000001.11:g.210418314G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly287Ter	rs1310390993	stop gained	-	NC_000001.11:g.210464507G>T	gnomAD
HHAT	Q5VTY9	p.Gly287Val	rs1173716957	missense variant	-	NC_000001.11:g.210464508G>T	TOPMed
HHAT	Q5VTY9	p.Leu288Val	rs1435982918	missense variant	-	NC_000001.11:g.210464510C>G	TOPMed
HHAT	Q5VTY9	p.Ala289Val	rs192286679	missense variant	-	NC_000001.11:g.210464514C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln292Arg	rs1475643148	missense variant	-	NC_000001.11:g.210464523A>G	TOPMed
HHAT	Q5VTY9	p.Val293Glu	rs1243613343	missense variant	-	NC_000001.11:g.210464526T>A	TOPMed
HHAT	Q5VTY9	p.Phe295Ser	rs1018558976	missense variant	-	NC_000001.11:g.210464532T>C	TOPMed
HHAT	Q5VTY9	p.Phe296Leu	rs1341668706	missense variant	-	NC_000001.11:g.210464536C>G	gnomAD
HHAT	Q5VTY9	p.Tyr297Cys	rs1487919886	missense variant	-	NC_000001.11:g.210464538A>G	TOPMed
HHAT	Q5VTY9	p.Val298Met	rs967141075	missense variant	-	NC_000001.11:g.210464540G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys299Thr	rs1181785857	missense variant	-	NC_000001.11:g.210464544A>C	gnomAD
HHAT	Q5VTY9	p.Lys299Gln	rs144173927	missense variant	-	NC_000001.11:g.210464543A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr300Cys	rs541167454	missense variant	-	NC_000001.11:g.210464547A>G	TOPMed
HHAT	Q5VTY9	p.Tyr300His	rs756776629	missense variant	-	NC_000001.11:g.210464546T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Val302Ala	rs780669166	missense variant	-	NC_000001.11:g.210464553T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Leu303Phe	rs1389201461	missense variant	-	NC_000001.11:g.210464555C>T	gnomAD
HHAT	Q5VTY9	p.Val306Leu	rs779948186	missense variant	-	NC_000001.11:g.210464564G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val306Met	rs779948186	missense variant	-	NC_000001.11:g.210464564G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro307Leu	rs749060244	missense variant	-	NC_000001.11:g.210464568C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu310Pro	rs1296554350	missense variant	-	NC_000001.11:g.210464577T>C	gnomAD
HHAT	Q5VTY9	p.Met311Thr	rs200901586	missense variant	-	NC_000001.11:g.210464580T>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Cys	rs777865030	missense variant	-	NC_000001.11:g.210464582C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Ser	rs777865030	missense variant	-	NC_000001.11:g.210464582C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312His	rs34362403	missense variant	-	NC_000001.11:g.210464583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp314Glu	rs1209434701	missense variant	-	NC_000001.11:g.210464590T>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp314Asn	rs1463422784	missense variant	-	NC_000001.11:g.210464588G>A	gnomAD
HHAT	Q5VTY9	p.Thr317Ala	rs1254789301	missense variant	-	NC_000001.11:g.210464597A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr317Ile	rs771201072	missense variant	-	NC_000001.11:g.210464598C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro318Leu	rs1026211141	missense variant	-	NC_000001.11:g.210464601C>T	TOPMed
HHAT	Q5VTY9	p.Pro319Ser	rs770442814	missense variant	-	NC_000001.11:g.210464603C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala320Thr	rs143700139	missense variant	-	NC_000001.11:g.210464606G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Ser	rs143700139	missense variant	-	NC_000001.11:g.210464606G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Pro	rs143700139	missense variant	-	NC_000001.11:g.210464606G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu321Phe	rs534915659	missense variant	-	NC_000001.11:g.210464609C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Pro322Ser	rs773936014	missense variant	-	NC_000001.11:g.210464612C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro322Leu	rs761454249	missense variant	-	NC_000001.11:g.210464613C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Cys	rs146916002	missense variant	-	NC_000001.11:g.210464615C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323His	rs749916241	missense variant	-	NC_000001.11:g.210464616G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Ser	rs146916002	missense variant	-	NC_000001.11:g.210464615C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val325Met	rs766259679	missense variant	-	NC_000001.11:g.210464621G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser326Arg	rs1305915605	missense variant	-	NC_000001.11:g.210464624A>C	gnomAD
HHAT	Q5VTY9	p.Ser326Asn	rs1310979158	missense variant	-	NC_000001.11:g.210464625G>A	gnomAD
HHAT	Q5VTY9	p.Thr327Ala	rs753743106	missense variant	-	NC_000001.11:g.210464627A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met328Ile	rs369156629	missense variant	-	NC_000001.11:g.210464632G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Thr	rs778762203	missense variant	-	NC_000001.11:g.210464637G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Gly	rs1319305222	missense variant	-	NC_000001.11:g.210464636A>G	gnomAD
HHAT	Q5VTY9	p.Ser330Asn	rs778762203	missense variant	-	NC_000001.11:g.210464637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr332Ile	rs1267974210	missense variant	-	NC_000001.11:g.210464643C>T	gnomAD
HHAT	Q5VTY9	p.Gly333Arg	rs61744143	missense variant	-	NC_000001.11:g.210464645G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Val	rs1477472411	missense variant	-	NC_000001.11:g.210464648A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Leu	rs1477472411	missense variant	-	NC_000001.11:g.210464648A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Lys	rs1418277029	missense variant	-	NC_000001.11:g.210464649T>A	TOPMed
HHAT	Q5VTY9	p.Arg336Ser	rs774794788	missense variant	-	NC_000001.11:g.210513153G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr337His	rs1480552168	missense variant	-	NC_000001.11:g.210513154T>C	TOPMed
HHAT	Q5VTY9	p.Asp339Glu	rs1486645557	missense variant	-	NC_000001.11:g.210513162T>A	gnomAD
HHAT	Q5VTY9	p.Val340Ile	rs748544351	missense variant	-	NC_000001.11:g.210513163G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val340Ala	rs1236766012	missense variant	-	NC_000001.11:g.210513164T>C	gnomAD
HHAT	Q5VTY9	p.His343Tyr	rs1471698324	missense variant	-	NC_000001.11:g.210513172C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	NC_000001.11:g.210587898G>C	TOPMed
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	NC_000001.11:g.210587898G>T	TOPMed
HHAT	Q5VTY9	p.Arg348Thr	rs1430616111	missense variant	-	NC_000001.11:g.210513188G>C	gnomAD
HHAT	Q5VTY9	p.Val350Glu	rs529893253	missense variant	-	NC_000001.11:g.210587903T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr351Cys	rs1413244904	missense variant	-	NC_000001.11:g.210587906A>G	gnomAD
HHAT	Q5VTY9	p.Ile352Leu	rs778078227	missense variant	-	NC_000001.11:g.210587908A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile352Val	rs778078227	missense variant	-	NC_000001.11:g.210587908A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro353Ser	rs746687297	missense variant	-	NC_000001.11:g.210587911C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly355Ser	rs768820197	missense variant	-	NC_000001.11:g.210587917G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly356Arg	rs776106560	missense variant	-	NC_000001.11:g.210587920G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser357Cys	rs1336939401	missense variant	-	NC_000001.11:g.210587924C>G	TOPMed
HHAT	Q5VTY9	p.Gln358Arg	rs1331461975	missense variant	-	NC_000001.11:g.210587927A>G	TOPMed
HHAT	Q5VTY9	p.His359Tyr	rs1390109673	missense variant	-	NC_000001.11:g.210587929C>T	TOPMed
HHAT	Q5VTY9	p.Leu361Met	rs775624263	missense variant	-	NC_000001.11:g.210587935C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu362Arg	rs1189204348	missense variant	-	NC_000001.11:g.210587939T>G	gnomAD
HHAT	Q5VTY9	p.Leu365Val	rs1206534082	missense variant	-	NC_000001.11:g.210587947C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu365Arg	rs1472183131	missense variant	-	NC_000001.11:g.210587948T>G	TOPMed
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	NC_000001.11:g.210587952T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	NC_000001.11:g.210587952T>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr368Met	rs761470224	missense variant	-	NC_000001.11:g.210587957C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala369Val	rs753942041	missense variant	-	NC_000001.11:g.210587960C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala369Thr	rs1250855428	missense variant	-	NC_000001.11:g.210587959G>A	TOPMed
HHAT	Q5VTY9	p.Met370Leu	rs753271439	missense variant	-	NC_000001.11:g.210587962A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Ile	rs761768543	missense variant	-	NC_000001.11:g.210587964G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Val	rs753271439	missense variant	-	NC_000001.11:g.210587962A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ala	rs778202949	missense variant	-	NC_000001.11:g.210587965A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ile	rs149597734	missense variant	-	NC_000001.11:g.210587966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Tyr	rs771134636	missense variant	-	NC_000001.11:g.210587969T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Ser	rs771134636	missense variant	-	NC_000001.11:g.210587969T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Cys	rs771134636	missense variant	-	NC_000001.11:g.210587969T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala373Thr	rs780907560	missense variant	-	NC_000001.11:g.210587971G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr377Cys	rs745491597	missense variant	-	NC_000001.11:g.210587984A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Gly	rs75379612	missense variant	-	NC_000001.11:g.210587986T>G	gnomAD
HHAT	Q5VTY9	p.Trp378Ter	rs1350371972	stop gained	-	NC_000001.11:g.210587987G>A	TOPMed
HHAT	Q5VTY9	p.Trp378Cys	rs769492158	missense variant	-	NC_000001.11:g.210587988G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.His379Arg	rs1407130052	missense variant	-	NC_000001.11:g.210587990A>G	TOPMed
HHAT	Q5VTY9	p.His379Tyr	rs191150462	missense variant	-	NC_000001.11:g.210587989C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly380Ser	rs1319221366	missense variant	-	NC_000001.11:g.210587992G>A	gnomAD
HHAT	Q5VTY9	p.Gly381Ser	rs755024350	missense variant	-	NC_000001.11:g.210587995G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr382His	rs1210658100	missense variant	-	NC_000001.11:g.210587998T>C	gnomAD
HHAT	Q5VTY9	p.Asp383Gly	rs148696006	missense variant	-	NC_000001.11:g.210588002A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Ala	rs148696006	missense variant	-	NC_000001.11:g.210588002A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Glu	rs1471597942	missense variant	-	NC_000001.11:g.210588003C>G	TOPMed
HHAT	Q5VTY9	p.Asp383Asn	rs537432647	missense variant	-	NC_000001.11:g.210588001G>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu385Pro	rs1472535776	missense variant	-	NC_000001.11:g.210588008T>C	gnomAD
HHAT	Q5VTY9	p.Leu385Phe	rs1253211468	missense variant	-	NC_000001.11:g.210588007C>T	gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	NC_000001.11:g.210588012G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	NC_000001.11:g.210588012G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys387Tyr	rs958275249	missense variant	-	NC_000001.11:g.210588014G>A	TOPMed
HHAT	Q5VTY9	p.Cys387Gly	rs1286369938	missense variant	-	NC_000001.11:g.210588013T>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp388Ter	rs759676083	stop gained	-	NC_000001.11:g.210588018G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala389Thr	rs765348085	missense variant	-	NC_000001.11:g.210588019G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala390Glu	rs139134333	missense variant	-	NC_000001.11:g.210588023C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala390Val	rs139134333	missense variant	-	NC_000001.11:g.210588023C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu391Pro	rs1447758274	missense variant	-	NC_000001.11:g.210588026T>C	TOPMed
HHAT	Q5VTY9	p.Leu391Phe	rs1308080230	missense variant	-	NC_000001.11:g.210588025C>T	gnomAD
HHAT	Q5VTY9	p.Asn392Ser	rs145501609	missense variant	-	NC_000001.11:g.210588029A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn392Lys	rs781404828	missense variant	-	NC_000001.11:g.210588030C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp393Ter	rs745572125	stop gained	-	NC_000001.11:g.210588033G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly395Glu	rs1041130066	missense variant	-	NC_000001.11:g.210588038G>A	TOPMed
HHAT	Q5VTY9	p.Val396Ile	rs1329136878	missense variant	-	NC_000001.11:g.210588040G>A	TOPMed
HHAT	Q5VTY9	p.Thr397Ala	rs201464164	missense variant	-	NC_000001.11:g.210588043A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu399Gly	rs1354462659	missense variant	-	NC_000001.11:g.210588050A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ser	rs528513055	missense variant	-	NC_000001.11:g.210588053A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ile	rs528513055	missense variant	-	NC_000001.11:g.210588053A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly401Arg	rs1435366590	missense variant	-	NC_000001.11:g.210588055G>A	TOPMed
HHAT	Q5VTY9	p.Val402Ala	rs147691760	missense variant	-	NC_000001.11:g.210588059T>C	ESP,gnomAD
HHAT	Q5VTY9	p.Arg403Gln	rs368498838	missense variant	-	NC_000001.11:g.210588062G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg403Trp	rs144274904	missense variant	-	NC_000001.11:g.210588061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val406Ala	rs1387194915	missense variant	-	NC_000001.11:g.210588071T>C	TOPMed
HHAT	Q5VTY9	p.Glu407Lys	rs772854695	missense variant	-	NC_000001.11:g.210588073G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr408Ile	rs760410532	missense variant	-	NC_000001.11:g.210588077C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro409Ala	rs765471482	missense variant	-	NC_000001.11:g.210588079C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro409Thr	rs765471482	missense variant	-	NC_000001.11:g.210588079C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp413Ala	rs1190379715	missense variant	-	NC_000001.11:g.210588092A>C	TOPMed
HHAT	Q5VTY9	p.Ser414Arg	rs572645178	missense variant	-	NC_000001.11:g.210588094A>C	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Ala416Thr	rs1274596916	missense variant	-	NC_000001.11:g.210623526G>A	TOPMed
HHAT	Q5VTY9	p.Arg417Ter	rs767942183	stop gained	-	NC_000001.11:g.210623529C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg417Gln	rs372287242	missense variant	-	NC_000001.11:g.210623530G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr418Ter	rs761135455	stop gained	-	NC_000001.11:g.210623534C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser420Thr	rs1400124587	missense variant	-	NC_000001.11:g.210623538T>A	TOPMed
HHAT	Q5VTY9	p.Pro421Leu	rs766841031	missense variant	-	NC_000001.11:g.210623542C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln422Arg	rs147869616	missense variant	-	NC_000001.11:g.210623545A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424Cys	rs778537110	missense variant	-	NC_000001.11:g.210623550C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg424His	rs752178549	missense variant	-	NC_000001.11:g.210623551G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg425His	rs777581246	missense variant	-	NC_000001.11:g.210623554G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg425Cys	rs367896407	missense variant	-	NC_000001.11:g.210623553C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Gln	rs371790765	missense variant	-	NC_000001.11:g.210623557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Leu	rs371790765	missense variant	-	NC_000001.11:g.210623557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs770778775	missense variant	-	NC_000001.11:g.210623559T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	NC_000001.11:g.210623561C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	NC_000001.11:g.210623561C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.His428Tyr	rs1267872556	missense variant	-	NC_000001.11:g.210623562C>T	gnomAD
HHAT	Q5VTY9	p.Ala429Thr	rs376491664	missense variant	-	NC_000001.11:g.210623565G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala430Val	rs1246866620	missense variant	-	NC_000001.11:g.210623569C>T	gnomAD
HHAT	Q5VTY9	p.Ala430Thr	rs1020683342	missense variant	-	NC_000001.11:g.210623568G>A	TOPMed
HHAT	Q5VTY9	p.Leu431Arg	rs1327162202	missense variant	-	NC_000001.11:g.210623572T>G	gnomAD
HHAT	Q5VTY9	p.Leu431Val	rs772132903	missense variant	-	NC_000001.11:g.210623571C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu431Phe	rs772132903	missense variant	-	NC_000001.11:g.210623571C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser433Cys	rs1202168184	missense variant	-	NC_000001.11:g.210623578C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr436Ile	rs952228974	missense variant	-	NC_000001.11:g.210623587C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Trp	rs113371678	missense variant	-	NC_000001.11:g.210623590C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Leu	rs113371678	missense variant	-	NC_000001.11:g.210623590C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile440Ser	rs202236243	missense variant	-	NC_000001.11:g.210623599T>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn443Ser	rs759902169	missense variant	-	NC_000001.11:g.210623608A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu444Met	rs764798520	missense variant	-	NC_000001.11:g.210623610C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe446Leu	rs761804644	missense variant	-	NC_000001.11:g.210623616T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu447Pro	rs751537022	missense variant	-	NC_000001.11:g.210623620T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Gly448Glu	rs757163023	missense variant	-	NC_000001.11:g.210623623G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly448Arg	rs1288194139	missense variant	-	NC_000001.11:g.210623622G>A	gnomAD
HHAT	Q5VTY9	p.Gly449Asp	rs112551598	missense variant	-	NC_000001.11:g.210623626G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450His	rs1236467255	missense variant	-	NC_000001.11:g.210623628A>C	TOPMed
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	NC_000001.11:g.210623629A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	NC_000001.11:g.210623629A>G	UniProt,dbSNP
HHAT	Q5VTY9	p.Asn450Ser	VAR_024745	missense variant	-	NC_000001.11:g.210623629A>G	UniProt
HHAT	Q5VTY9	p.Gly453Val	rs544741245	missense variant	-	NC_000001.11:g.210623638G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Gly453Arg	rs779017166	missense variant	-	NC_000001.11:g.210623637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr455Ala	rs1181369040	missense variant	-	NC_000001.11:g.210623643A>G	gnomAD
HHAT	Q5VTY9	p.Thr455Ser	rs1231046147	missense variant	-	NC_000001.11:g.210623644C>G	gnomAD
HHAT	Q5VTY9	p.Tyr456His	rs772114026	missense variant	-	NC_000001.11:g.210623646T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp457Ter	rs773398217	stop gained	-	NC_000001.11:g.210623651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Asn458Thr	rs1414852061	missense variant	-	NC_000001.11:g.210623653A>C	gnomAD
HHAT	Q5VTY9	p.Arg459Gly	rs1404967475	missense variant	-	NC_000001.11:g.210623655A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile460Met	rs1161817788	missense variant	-	NC_000001.11:g.210623660C>G	gnomAD
HHAT	Q5VTY9	p.Phe461Val	rs747570787	missense variant	-	NC_000001.11:g.210623661T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile462Val	rs372765603	missense variant	-	NC_000001.11:g.210623664A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln463His	rs759828685	missense variant	-	NC_000001.11:g.210623669A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly464Ala	rs1473013625	missense variant	-	NC_000001.11:g.210674288G>C	gnomAD
HHAT	Q5VTY9	p.Gly464Ser	rs765617712	missense variant	-	NC_000001.11:g.210623670G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly464Arg	rs765617712	missense variant	-	NC_000001.11:g.210623670G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ser	rs1162782214	missense variant	-	NC_000001.11:g.210674293C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ala	rs1162782214	missense variant	-	NC_000001.11:g.210674293C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp467Ter	rs766141146	stop gained	-	NC_000001.11:g.210674298G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser471Pro	rs1341787711	missense variant	-	NC_000001.11:g.210674308T>C	TOPMed
HHAT	Q5VTY9	p.Tyr479Cys	rs1389282522	missense variant	-	NC_000001.11:g.210674333A>G	gnomAD
HHAT	Q5VTY9	p.Ser480Phe	rs778151421	missense variant	-	NC_000001.11:g.210674336C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Val482Met	rs200853402	missense variant	-	NC_000001.11:g.210674341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile484Thr	rs781297562	missense variant	-	NC_000001.11:g.210674348T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile484Val	rs1489287557	missense variant	-	NC_000001.11:g.210674347A>G	gnomAD
HHAT	Q5VTY9	p.Trp486Leu	rs145943928	missense variant	-	NC_000001.11:g.210674354G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala487Thr	rs977412599	missense variant	-	NC_000001.11:g.210674356G>A	TOPMed
HHAT	Q5VTY9	p.Thr489Asn	rs770356363	missense variant	-	NC_000001.11:g.210674363C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr489Ile	rs770356363	missense variant	-	NC_000001.11:g.210674363C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala491Thr	rs749666736	missense variant	-	NC_000001.11:g.210674368G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala491Val	rs1194243455	missense variant	-	NC_000001.11:g.210674369C>T	gnomAD
HHAT	Q5VTY9	p.Thr492Met	rs148466987	missense variant	-	NC_000001.11:g.210674372C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Glu	rs1258511865	missense variant	-	NC_000001.11:g.210674376C>G	TOPMed
HHAT	Q5VTY9	p.Asp493Asn	rs200680141	missense variant	-	NC_000001.11:g.210674374G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met1Leu	RCV000624001	missense variant	Inborn genetic diseases	NC_000001.11:g.210348976A>T	ClinVar
HHAT	Q5VTY9	p.Leu2Val	rs750211206	missense variant	-	CHR_HG1832_PATCH:g.210348979C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gly	rs779025178	missense variant	-	CHR_HG1832_PATCH:g.210348985C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg4Gln	rs758421766	missense variant	-	CHR_HG1832_PATCH:g.210348986G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Ter	rs779025178	stop gained	-	CHR_HG1832_PATCH:g.210348985C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp5Arg	rs777897235	missense variant	-	CHR_HG1832_PATCH:g.210348988T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu6Lys	rs747583836	missense variant	-	CHR_HG1832_PATCH:g.210348991G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala8Thr	rs150162144	missense variant	-	CHR_HG1832_PATCH:g.210348997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu9Ile	rs143903658	missense variant	-	CHR_HG1832_PATCH:g.210349000C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu9Phe	rs143903658	missense variant	-	CHR_HG1832_PATCH:g.210349000C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu12Val	rs1321878496	missense variant	-	CHR_HG1832_PATCH:g.210349009C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala13Val	rs775006103	missense variant	-	CHR_HG1832_PATCH:g.210349013C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Val	rs763566623	missense variant	-	CHR_HG1832_PATCH:g.210349024T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Leu	rs141741088	missense variant	-	CHR_HG1832_PATCH:g.210349026C>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe19Leu	rs761879800	missense variant	-	CHR_HG1832_PATCH:g.210349030T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr20Cys	rs1183312420	missense variant	-	CHR_HG1832_PATCH:g.210349034A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr23Cys	rs138327418	missense variant	-	CHR_HG1832_PATCH:g.210349043A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Phe	rs756004234	missense variant	-	CHR_HG1832_PATCH:g.210349052A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Cys	rs756004234	missense variant	-	CHR_HG1832_PATCH:g.210349052A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys27Arg	rs1454105739	missense variant	-	CHR_HG1832_PATCH:g.210349055A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser29Cys	rs752918841	missense variant	-	CHR_HG1832_PATCH:g.210349061C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu31Asp	rs186282077	missense variant	-	CHR_HG1832_PATCH:g.210362853A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu33Lys	rs751737702	missense variant	-	CHR_HG1832_PATCH:g.210362857G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu34Lys	rs1217467814	missense variant	-	CHR_HG1832_PATCH:g.210362860G>A	gnomAD
HHAT	Q5VTY9	p.Asp37Glu	rs1241555812	missense variant	-	CHR_HG1832_PATCH:g.210362871C>A	gnomAD
HHAT	Q5VTY9	p.Glu39Lys	rs1485201545	missense variant	-	CHR_HG1832_PATCH:g.210362875G>A	gnomAD
HHAT	Q5VTY9	p.Phe40Leu	rs144245212	missense variant	-	CHR_HG1832_PATCH:g.210362880T>A	ESP,TOPMed
HHAT	Q5VTY9	p.Leu42Pro	rs1426396610	missense variant	-	CHR_HG1832_PATCH:g.210362885T>C	gnomAD
HHAT	Q5VTY9	p.Thr46Ser	rs1251088486	missense variant	-	CHR_HG1832_PATCH:g.210362897C>G	TOPMed
HHAT	Q5VTY9	p.Thr46Ala	rs757329992	missense variant	-	CHR_HG1832_PATCH:g.210362896A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Tyr	rs201701816	missense variant	-	CHR_HG1832_PATCH:g.210362903T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Ser	rs201701816	missense variant	-	CHR_HG1832_PATCH:g.210362903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Cys	rs201701816	missense variant	-	CHR_HG1832_PATCH:g.210362903T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly49Arg	rs141591165	missense variant	-	CHR_HG1832_PATCH:g.210362905G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly50Ter	rs756643679	stop gained	-	CHR_HG1832_PATCH:g.210362908G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly50Arg	rs756643679	missense variant	-	CHR_HG1832_PATCH:g.210362908G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys53Glu	rs1438602469	missense variant	-	CHR_HG1832_PATCH:g.210362917A>G	gnomAD
HHAT	Q5VTY9	p.Asp54Val	rs746548984	missense variant	-	CHR_HG1832_PATCH:g.210387469A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Asp54Asn	rs777471907	missense variant	-	CHR_HG1832_PATCH:g.210387468G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala55Val	rs139380328	missense variant	-	CHR_HG1832_PATCH:g.210387472C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr56Asn	rs867091715	missense variant	-	CHR_HG1832_PATCH:g.210387475C>A	TOPMed
HHAT	Q5VTY9	p.Asp57Asn	rs1172717093	missense variant	-	CHR_HG1832_PATCH:g.210387477G>A	gnomAD
HHAT	Q5VTY9	p.Trp60Ter	rs762065926	stop gained	-	CHR_HG1832_PATCH:g.210387487G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp60Arg	rs1326549428	missense variant	-	CHR_HG1832_PATCH:g.210387486T>C	gnomAD
HHAT	Q5VTY9	p.Phe62Ile	rs558364465	missense variant	-	CHR_HG1832_PATCH:g.210387492T>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met64Val	rs773260603	missense variant	-	CHR_HG1832_PATCH:g.210387498A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu65Lys	rs760841342	missense variant	-	CHR_HG1832_PATCH:g.210387501G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp66Ter	rs1280659233	stop gained	-	CHR_HG1832_PATCH:g.210387505G>A	gnomAD
HHAT	Q5VTY9	p.Gln69Ter	rs1195612827	stop gained	-	CHR_HG1832_PATCH:g.210387513C>T	gnomAD
HHAT	Q5VTY9	p.Gln69Arg	rs754382840	missense variant	-	CHR_HG1832_PATCH:g.210387514A>G	ExAC
HHAT	Q5VTY9	p.Val72Leu	rs1188728045	missense variant	-	CHR_HG1832_PATCH:g.210387522G>T	TOPMed
HHAT	Q5VTY9	p.Val72Glu	rs78052077	missense variant	-	CHR_HG1832_PATCH:g.210387523T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val72Gly	rs78052077	missense variant	-	CHR_HG1832_PATCH:g.210387523T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp73Gly	rs753087963	missense variant	-	CHR_HG1832_PATCH:g.210387525T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp73Cys	rs758785739	missense variant	-	CHR_HG1832_PATCH:g.210387527G>T	ExAC
HHAT	Q5VTY9	p.Leu74Val	rs1473937850	missense variant	-	CHR_HG1832_PATCH:g.210387528C>G	gnomAD
HHAT	Q5VTY9	p.Leu75Phe	rs777596666	missense variant	-	CHR_HG1832_PATCH:g.210387531C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Met79Thr	rs746572782	missense variant	-	CHR_HG1832_PATCH:g.210387544T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Met79Ile	rs1373594134	missense variant	-	CHR_HG1832_PATCH:g.210387545G>A	gnomAD
HHAT	Q5VTY9	p.Val80Ile	rs1475019815	missense variant	-	CHR_HG1832_PATCH:g.210387546G>A	gnomAD
HHAT	Q5VTY9	p.Val81Met	rs1165981815	missense variant	-	CHR_HG1832_PATCH:g.210387549G>A	gnomAD
HHAT	Q5VTY9	p.Val81Glu	rs756801763	missense variant	-	CHR_HG1832_PATCH:g.210387550T>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr86Pro	rs192652993	missense variant	-	CHR_HG1832_PATCH:g.210387564A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg90Gly	rs769691809	missense variant	-	CHR_HG1832_PATCH:g.210387576A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.His92Arg	rs1169086872	missense variant	-	CHR_HG1832_PATCH:g.210400469A>G	gnomAD
HHAT	Q5VTY9	p.Pro94His	rs774003816	missense variant	-	CHR_HG1832_PATCH:g.210400475C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro94Arg	rs774003816	missense variant	-	CHR_HG1832_PATCH:g.210400475C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile96Ser	rs1269395595	missense variant	-	CHR_HG1832_PATCH:g.210400481T>G	gnomAD
HHAT	Q5VTY9	p.Tyr100Cys	rs1192812979	missense variant	-	CHR_HG1832_PATCH:g.210400493A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly101Arg	rs776861325	missense variant	-	CHR_HG1832_PATCH:g.210400495G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met102Thr	rs1335123292	missense variant	-	CHR_HG1832_PATCH:g.210400499T>C	TOPMed
HHAT	Q5VTY9	p.Met102Leu	rs769924809	missense variant	-	CHR_HG1832_PATCH:g.210400498A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys105Tyr	rs1364527782	missense variant	-	CHR_HG1832_PATCH:g.210400508G>A	gnomAD
HHAT	Q5VTY9	p.Trp106Cys	rs1453153427	missense variant	-	CHR_HG1832_PATCH:g.210400512G>T	gnomAD
HHAT	Q5VTY9	p.Cys107Phe	rs1156840610	missense variant	-	CHR_HG1832_PATCH:g.210400514G>T	gnomAD
HHAT	Q5VTY9	p.Val108Leu	rs763536701	missense variant	-	CHR_HG1832_PATCH:g.210400516G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly110Arg	rs1307835291	missense variant	-	CHR_HG1832_PATCH:g.210400522G>A	gnomAD
HHAT	Q5VTY9	p.Thr111Asn	rs751842969	missense variant	-	CHR_HG1832_PATCH:g.210400526C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro112Leu	rs145455128	missense variant	-	CHR_HG1832_PATCH:g.210400529C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala115Asp	rs1046862949	missense variant	-	CHR_HG1832_PATCH:g.210400538C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met116Val	rs199828596	missense variant	-	CHR_HG1832_PATCH:g.210400540A>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His120Tyr	rs1231178551	missense variant	-	CHR_HG1832_PATCH:g.210400552C>T	gnomAD
HHAT	Q5VTY9	p.Thr122Ala	rs941269680	missense variant	-	CHR_HG1832_PATCH:g.210400558A>G	TOPMed
HHAT	Q5VTY9	p.Thr122Ile	rs1212970048	missense variant	-	CHR_HG1832_PATCH:g.210400559C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser124Cys	rs1271102309	missense variant	-	CHR_HG1832_PATCH:g.210400565C>G	gnomAD
HHAT	Q5VTY9	p.Ser124Phe	rs1271102309	missense variant	-	CHR_HG1832_PATCH:g.210400565C>T	gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	CHR_HG1832_PATCH:g.210400569C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	CHR_HG1832_PATCH:g.210400569C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys126Gly	rs753831505	missense variant	-	CHR_HG1832_PATCH:g.210400570T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Val127Met	rs375839407	missense variant	-	CHR_HG1832_PATCH:g.210400573G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala128Thr	rs1475853230	missense variant	-	CHR_HG1832_PATCH:g.210400576G>A	gnomAD
HHAT	Q5VTY9	p.Gln129Arg	rs141306397	missense variant	-	CHR_HG1832_PATCH:g.210400580A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln129His	rs545915563	missense variant	-	CHR_HG1832_PATCH:g.210400581G>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe130Leu	rs746026575	missense variant	-	CHR_HG1832_PATCH:g.210400584C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe130Cys	rs781566798	missense variant	-	CHR_HG1832_PATCH:g.210400583T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Gln	rs370012146	missense variant	-	CHR_HG1832_PATCH:g.210400586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Pro	rs370012146	missense variant	-	CHR_HG1832_PATCH:g.210400586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Trp	rs138752308	missense variant	-	CHR_HG1832_PATCH:g.210400585C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln133Ter	rs1440623661	stop gained	-	CHR_HG1832_PATCH:g.210400591C>T	TOPMed
HHAT	Q5VTY9	p.Thr136Ala	rs769025548	missense variant	-	CHR_HG1832_PATCH:g.210400600A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr136Met	rs376054556	missense variant	-	CHR_HG1832_PATCH:g.210400601C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr136Lys	rs376054556	missense variant	-	CHR_HG1832_PATCH:g.210400601C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp137Cys	rs767857766	missense variant	-	CHR_HG1832_PATCH:g.210400605G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys139Arg	rs750090558	missense variant	-	CHR_HG1832_PATCH:g.210400609T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser140Cys	rs760308081	missense variant	-	CHR_HG1832_PATCH:g.210400613C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr146Ala	rs765941795	missense variant	-	CHR_HG1832_PATCH:g.210400630A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr146Ile	rs200772379	missense variant	-	CHR_HG1832_PATCH:g.210400631C>T	TOPMed
HHAT	Q5VTY9	p.Gly151Ser	rs374495612	missense variant	-	CHR_HG1832_PATCH:g.210400645G>A	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu153Lys	rs753322887	missense variant	-	CHR_HG1832_PATCH:g.210400651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val155Ile	rs754462235	missense variant	-	CHR_HG1832_PATCH:g.210400657G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg157Thr	rs1055755703	missense variant	-	CHR_HG1832_PATCH:g.210404465G>C	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys161Gln	rs764017113	missense variant	-	CHR_HG1832_PATCH:g.210404476A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn164Asp	rs748514239	missense variant	-	CHR_HG1832_PATCH:g.210404485A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu165Lys	rs374048677	missense variant	-	CHR_HG1832_PATCH:g.210404488G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr172Met	rs139483274	missense variant	-	CHR_HG1832_PATCH:g.210404510C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr174Ser	rs1365991028	missense variant	-	CHR_HG1832_PATCH:g.210404515A>T	gnomAD
HHAT	Q5VTY9	p.Thr174Ile	rs747405504	missense variant	-	CHR_HG1832_PATCH:g.210404516C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Val175Ile	rs776159715	missense variant	-	CHR_HG1832_PATCH:g.210404518G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg176Cys	rs567439002	missense variant	-	CHR_HG1832_PATCH:g.210404521C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176Leu	rs145435771	missense variant	-	CHR_HG1832_PATCH:g.210404522G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176His	rs145435771	missense variant	-	CHR_HG1832_PATCH:g.210404522G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys177Tyr	rs775030191	missense variant	-	CHR_HG1832_PATCH:g.210404525G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu178Val	rs1374615080	missense variant	-	CHR_HG1832_PATCH:g.210404527C>G	TOPMed
HHAT	Q5VTY9	p.Tyr179Cys	rs535833711	missense variant	-	CHR_HG1832_PATCH:g.210404531A>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr181Ile	rs765901690	missense variant	-	CHR_HG1832_PATCH:g.210404537C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr181Asn	rs765901690	missense variant	-	CHR_HG1832_PATCH:g.210404537C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	CHR_HG1832_PATCH:g.210404540G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	NC_000001.11:g.210404540G>A	UniProt,dbSNP
HHAT	Q5VTY9	p.Ser182Asn	VAR_024743	missense variant	-	NC_000001.11:g.210404540G>A	UniProt
HHAT	Q5VTY9	p.Ser184Ile	rs1206506032	missense variant	-	CHR_HG1832_PATCH:g.210404546G>T	gnomAD
HHAT	Q5VTY9	p.Leu185Val	rs755225544	missense variant	-	CHR_HG1832_PATCH:g.210404548C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys188Arg	rs34228541	missense variant	-	CHR_HG1832_PATCH:g.210404557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu192Pro	rs955610159	missense variant	-	CHR_HG1832_PATCH:g.210404570T>C	TOPMed
HHAT	Q5VTY9	p.Pro193Arg	rs758432747	missense variant	-	CHR_HG1832_PATCH:g.210404573C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro193Leu	rs758432747	missense variant	-	CHR_HG1832_PATCH:g.210404573C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser196Leu	rs376601925	missense variant	-	CHR_HG1832_PATCH:g.210404582C>T	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr197Pro	rs1327760185	missense variant	-	CHR_HG1832_PATCH:g.210404584A>C	gnomAD
HHAT	Q5VTY9	p.Tyr199Cys	rs747455697	missense variant	-	CHR_HG1832_PATCH:g.210404591A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser200Phe	rs781614202	missense variant	-	CHR_HG1832_PATCH:g.210404594C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser200Pro	rs771340497	missense variant	-	CHR_HG1832_PATCH:g.210404593T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro202Ser	rs1219742764	missense variant	-	CHR_HG1832_PATCH:g.210404599C>T	gnomAD
HHAT	Q5VTY9	p.Ala206Thr	rs1234274214	missense variant	-	CHR_HG1832_PATCH:g.210404611G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr207Cys	rs1176162825	missense variant	-	CHR_HG1832_PATCH:g.210404615A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Leu	rs1393561796	missense variant	-	CHR_HG1832_PATCH:g.210404622T>G	gnomAD
HHAT	Q5VTY9	p.Phe209Tyr	rs769462211	missense variant	-	CHR_HG1832_PATCH:g.210404621T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr210Ser	rs774960950	missense variant	-	CHR_HG1832_PATCH:g.210404624A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr210His	rs1459691356	missense variant	-	CHR_HG1832_PATCH:g.210404623T>C	gnomAD
HHAT	Q5VTY9	p.Tyr210Cys	rs774960950	missense variant	-	CHR_HG1832_PATCH:g.210404624A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr211His	rs1165960690	missense variant	-	CHR_HG1832_PATCH:g.210404626T>C	gnomAD
HHAT	Q5VTY9	p.Pro212Leu	rs768217049	missense variant	-	CHR_HG1832_PATCH:g.210404630C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.His215Arg	rs1443167558	missense variant	-	CHR_HG1832_PATCH:g.210404639A>G	gnomAD
HHAT	Q5VTY9	p.Asn216Ser	rs1048728289	missense variant	-	CHR_HG1832_PATCH:g.210404642A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe222Leu	rs147320835	missense variant	-	CHR_HG1832_PATCH:g.210404659T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser223Leu	rs767486877	missense variant	-	CHR_HG1832_PATCH:g.210404663C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu224Asp	rs965938188	missense variant	-	CHR_HG1832_PATCH:g.210404667G>C	gnomAD
HHAT	Q5VTY9	p.Phe225Val	rs750203730	missense variant	-	CHR_HG1832_PATCH:g.210404668T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys227Arg	rs1328074882	missense variant	-	CHR_HG1832_PATCH:g.210404675A>G	TOPMed
HHAT	Q5VTY9	p.Gln228Arg	rs1203362333	missense variant	-	CHR_HG1832_PATCH:g.210404678A>G	gnomAD
HHAT	Q5VTY9	p.Met229Leu	rs1394872962	missense variant	-	CHR_HG1832_PATCH:g.210418154A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Lys	rs749015922	missense variant	-	CHR_HG1832_PATCH:g.210418160C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Glu	rs749015922	missense variant	-	CHR_HG1832_PATCH:g.210418160C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Pro	rs778617403	missense variant	-	CHR_HG1832_PATCH:g.210418161A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gln231Ter	rs749015922	stop gained	-	CHR_HG1832_PATCH:g.210418160C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His234Tyr	rs1231520076	missense variant	-	CHR_HG1832_PATCH:g.210418169C>T	TOPMed
HHAT	Q5VTY9	p.Asp235Asn	rs771415014	missense variant	-	CHR_HG1832_PATCH:g.210418172G>A	ExAC
HHAT	Q5VTY9	p.Ser236Phe	rs773212620	missense variant	-	CHR_HG1832_PATCH:g.210418176C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu237Met	rs746907598	missense variant	-	CHR_HG1832_PATCH:g.210418178C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu241Gln	rs376960795	missense variant	-	CHR_HG1832_PATCH:g.210418191T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Arg	rs200438732	missense variant	-	CHR_HG1832_PATCH:g.210418193T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Gly	rs200438732	missense variant	-	CHR_HG1832_PATCH:g.210418193T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Tyr	rs374579980	missense variant	-	CHR_HG1832_PATCH:g.210418194G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Val243Ala	rs1284891579	missense variant	-	CHR_HG1832_PATCH:g.210418197T>C	gnomAD
HHAT	Q5VTY9	p.Ala245Val	rs764319347	missense variant	-	CHR_HG1832_PATCH:g.210418203C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Asp	rs764319347	missense variant	-	CHR_HG1832_PATCH:g.210418203C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Gly	rs764319347	missense variant	-	CHR_HG1832_PATCH:g.210418203C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly247Arg	rs767440738	missense variant	-	CHR_HG1832_PATCH:g.210418208G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly249Ser	rs368531187	missense variant	-	CHR_HG1832_PATCH:g.210418214G>A	ESP,TOPMed
HHAT	Q5VTY9	p.Arg250His	rs148639278	missense variant	-	CHR_HG1832_PATCH:g.210418218G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250Cys	rs766891856	missense variant	-	CHR_HG1832_PATCH:g.210418217C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250Pro	rs148639278	missense variant	-	CHR_HG1832_PATCH:g.210418218G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp254Ter	rs987044311	stop gained	-	CHR_HG1832_PATCH:g.210418231G>A	TOPMed
HHAT	Q5VTY9	p.Trp254Ser	rs778740258	missense variant	-	CHR_HG1832_PATCH:g.210418230G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp255Leu	rs1021644358	missense variant	-	CHR_HG1832_PATCH:g.210418233G>T	gnomAD
HHAT	Q5VTY9	p.Trp255Ter	rs1021644358	stop gained	-	CHR_HG1832_PATCH:g.210418233G>A	gnomAD
HHAT	Q5VTY9	p.Trp256Ter	rs372024732	stop gained	-	CHR_HG1832_PATCH:g.210418237G>A	ESP,gnomAD
HHAT	Q5VTY9	p.Ala258Thr	rs747743664	missense variant	-	CHR_HG1832_PATCH:g.210418241G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala258Val	rs757984265	missense variant	-	CHR_HG1832_PATCH:g.210418242C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu259Lys	rs770748303	missense variant	-	CHR_HG1832_PATCH:g.210418244G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His263Gln	rs576213719	missense variant	-	CHR_HG1832_PATCH:g.210418258C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu264Met	rs745691529	missense variant	-	CHR_HG1832_PATCH:g.210418259C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu264Pro	rs769514962	missense variant	-	CHR_HG1832_PATCH:g.210418260T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met265Val	rs375086953	missense variant	-	CHR_HG1832_PATCH:g.210418262A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr266Asp	rs543648313	missense variant	-	CHR_HG1832_PATCH:g.210418265T>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr266Asn	rs543648313	missense variant	-	CHR_HG1832_PATCH:g.210418265T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Met267Ile	rs767706148	missense variant	-	CHR_HG1832_PATCH:g.210418270G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile270Phe	rs1274887070	missense variant	-	CHR_HG1832_PATCH:g.210418277A>T	gnomAD
HHAT	Q5VTY9	p.Tyr271Cys	rs1468755372	missense variant	-	CHR_HG1832_PATCH:g.210418281A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser273Asn	rs1408361995	missense variant	-	CHR_HG1832_PATCH:g.210418287G>A	gnomAD
HHAT	Q5VTY9	p.Leu276Ile	rs761293868	missense variant	-	CHR_HG1832_PATCH:g.210418295C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu276Val	rs761293868	missense variant	-	CHR_HG1832_PATCH:g.210418295C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu278Asp	rs561841936	missense variant	-	CHR_HG1832_PATCH:g.210418303G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys282Ser	rs754359000	missense variant	-	CHR_HG1832_PATCH:g.210418314G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys282Phe	rs754359000	missense variant	-	CHR_HG1832_PATCH:g.210418314G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly287Ter	rs1310390993	stop gained	-	CHR_HG1832_PATCH:g.210464507G>T	gnomAD
HHAT	Q5VTY9	p.Gly287Val	rs1173716957	missense variant	-	CHR_HG1832_PATCH:g.210464508G>T	TOPMed
HHAT	Q5VTY9	p.Leu288Val	rs1435982918	missense variant	-	CHR_HG1832_PATCH:g.210464510C>G	TOPMed
HHAT	Q5VTY9	p.Ala289Val	rs192286679	missense variant	-	CHR_HG1832_PATCH:g.210464514C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln292Arg	rs1475643148	missense variant	-	CHR_HG1832_PATCH:g.210464523A>G	TOPMed
HHAT	Q5VTY9	p.Val293Glu	rs1243613343	missense variant	-	CHR_HG1832_PATCH:g.210464526T>A	TOPMed
HHAT	Q5VTY9	p.Phe295Ser	rs1018558976	missense variant	-	CHR_HG1832_PATCH:g.210464532T>C	TOPMed
HHAT	Q5VTY9	p.Phe296Leu	rs1341668706	missense variant	-	CHR_HG1832_PATCH:g.210464536C>G	gnomAD
HHAT	Q5VTY9	p.Tyr297Cys	rs1487919886	missense variant	-	CHR_HG1832_PATCH:g.210464538A>G	TOPMed
HHAT	Q5VTY9	p.Val298Met	rs967141075	missense variant	-	CHR_HG1832_PATCH:g.210464540G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys299Thr	rs1181785857	missense variant	-	CHR_HG1832_PATCH:g.210464544A>C	gnomAD
HHAT	Q5VTY9	p.Lys299Gln	rs144173927	missense variant	-	CHR_HG1832_PATCH:g.210464543A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr300His	rs756776629	missense variant	-	CHR_HG1832_PATCH:g.210464546T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr300Cys	rs541167454	missense variant	-	CHR_HG1832_PATCH:g.210464547A>G	TOPMed
HHAT	Q5VTY9	p.Val302Ala	rs780669166	missense variant	-	CHR_HG1832_PATCH:g.210464553T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Leu303Phe	rs1389201461	missense variant	-	CHR_HG1832_PATCH:g.210464555C>T	gnomAD
HHAT	Q5VTY9	p.Val306Leu	rs779948186	missense variant	-	CHR_HG1832_PATCH:g.210464564G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val306Met	rs779948186	missense variant	-	CHR_HG1832_PATCH:g.210464564G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro307Leu	rs749060244	missense variant	-	CHR_HG1832_PATCH:g.210464568C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu310Pro	rs1296554350	missense variant	-	CHR_HG1832_PATCH:g.210464577T>C	gnomAD
HHAT	Q5VTY9	p.Met311Thr	rs200901586	missense variant	-	CHR_HG1832_PATCH:g.210464580T>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312His	rs34362403	missense variant	-	CHR_HG1832_PATCH:g.210464583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Cys	rs777865030	missense variant	-	CHR_HG1832_PATCH:g.210464582C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Ser	rs777865030	missense variant	-	CHR_HG1832_PATCH:g.210464582C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp314Asn	rs1463422784	missense variant	-	CHR_HG1832_PATCH:g.210464588G>A	gnomAD
HHAT	Q5VTY9	p.Asp314Glu	rs1209434701	missense variant	-	CHR_HG1832_PATCH:g.210464590T>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr317Ile	rs771201072	missense variant	-	CHR_HG1832_PATCH:g.210464598C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr317Ala	rs1254789301	missense variant	-	CHR_HG1832_PATCH:g.210464597A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro318Leu	rs1026211141	missense variant	-	CHR_HG1832_PATCH:g.210464601C>T	TOPMed
HHAT	Q5VTY9	p.Pro319Ser	rs770442814	missense variant	-	CHR_HG1832_PATCH:g.210464603C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala320Thr	rs143700139	missense variant	-	CHR_HG1832_PATCH:g.210464606G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Ser	rs143700139	missense variant	-	CHR_HG1832_PATCH:g.210464606G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Pro	rs143700139	missense variant	-	CHR_HG1832_PATCH:g.210464606G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu321Phe	rs534915659	missense variant	-	CHR_HG1832_PATCH:g.210464609C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Pro322Ser	rs773936014	missense variant	-	CHR_HG1832_PATCH:g.210464612C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro322Leu	rs761454249	missense variant	-	CHR_HG1832_PATCH:g.210464613C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Cys	rs146916002	missense variant	-	CHR_HG1832_PATCH:g.210464615C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Ser	rs146916002	missense variant	-	CHR_HG1832_PATCH:g.210464615C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323His	rs749916241	missense variant	-	CHR_HG1832_PATCH:g.210464616G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val325Met	rs766259679	missense variant	-	CHR_HG1832_PATCH:g.210464621G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser326Asn	rs1310979158	missense variant	-	CHR_HG1832_PATCH:g.210464625G>A	gnomAD
HHAT	Q5VTY9	p.Ser326Arg	rs1305915605	missense variant	-	CHR_HG1832_PATCH:g.210464624A>C	gnomAD
HHAT	Q5VTY9	p.Thr327Ala	rs753743106	missense variant	-	CHR_HG1832_PATCH:g.210464627A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met328Ile	rs369156629	missense variant	-	CHR_HG1832_PATCH:g.210464632G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Gly	rs1319305222	missense variant	-	CHR_HG1832_PATCH:g.210464636A>G	gnomAD
HHAT	Q5VTY9	p.Ser330Asn	rs778762203	missense variant	-	CHR_HG1832_PATCH:g.210464637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Thr	rs778762203	missense variant	-	CHR_HG1832_PATCH:g.210464637G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr332Ile	rs1267974210	missense variant	-	CHR_HG1832_PATCH:g.210464643C>T	gnomAD
HHAT	Q5VTY9	p.Gly333Arg	rs61744143	missense variant	-	CHR_HG1832_PATCH:g.210464645G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Lys	rs1418277029	missense variant	-	CHR_HG1832_PATCH:g.210464649T>A	TOPMed
HHAT	Q5VTY9	p.Met334Leu	rs1477472411	missense variant	-	CHR_HG1832_PATCH:g.210464648A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Val	rs1477472411	missense variant	-	CHR_HG1832_PATCH:g.210464648A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg336Ser	rs774794788	missense variant	-	CHR_HG1832_PATCH:g.210513153G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr337His	rs1480552168	missense variant	-	CHR_HG1832_PATCH:g.210513154T>C	TOPMed
HHAT	Q5VTY9	p.Asp339Glu	rs1486645557	missense variant	-	CHR_HG1832_PATCH:g.210513162T>A	gnomAD
HHAT	Q5VTY9	p.Val340Ala	rs1236766012	missense variant	-	CHR_HG1832_PATCH:g.210513164T>C	gnomAD
HHAT	Q5VTY9	p.Val340Ile	rs748544351	missense variant	-	CHR_HG1832_PATCH:g.210513163G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His343Tyr	rs1471698324	missense variant	-	CHR_HG1832_PATCH:g.210513172C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	CHR_HG1832_PATCH:g.210587898G>C	TOPMed
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	CHR_HG1832_PATCH:g.210587898G>T	TOPMed
HHAT	Q5VTY9	p.Arg348Thr	rs1430616111	missense variant	-	CHR_HG1832_PATCH:g.210513188G>C	gnomAD
HHAT	Q5VTY9	p.Val350Glu	rs529893253	missense variant	-	CHR_HG1832_PATCH:g.210587903T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr351Cys	rs1413244904	missense variant	-	CHR_HG1832_PATCH:g.210587906A>G	gnomAD
HHAT	Q5VTY9	p.Ile352Leu	rs778078227	missense variant	-	CHR_HG1832_PATCH:g.210587908A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile352Val	rs778078227	missense variant	-	CHR_HG1832_PATCH:g.210587908A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro353Ser	rs746687297	missense variant	-	CHR_HG1832_PATCH:g.210587911C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly355Ser	rs768820197	missense variant	-	CHR_HG1832_PATCH:g.210587917G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly356Arg	rs776106560	missense variant	-	CHR_HG1832_PATCH:g.210587920G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser357Cys	rs1336939401	missense variant	-	CHR_HG1832_PATCH:g.210587924C>G	TOPMed
HHAT	Q5VTY9	p.Gln358Arg	rs1331461975	missense variant	-	CHR_HG1832_PATCH:g.210587927A>G	TOPMed
HHAT	Q5VTY9	p.His359Tyr	rs1390109673	missense variant	-	CHR_HG1832_PATCH:g.210587929C>T	TOPMed
HHAT	Q5VTY9	p.Leu361Met	rs775624263	missense variant	-	CHR_HG1832_PATCH:g.210587935C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu362Arg	rs1189204348	missense variant	-	CHR_HG1832_PATCH:g.210587939T>G	gnomAD
HHAT	Q5VTY9	p.Leu365Arg	rs1472183131	missense variant	-	CHR_HG1832_PATCH:g.210587948T>G	TOPMed
HHAT	Q5VTY9	p.Leu365Val	rs1206534082	missense variant	-	CHR_HG1832_PATCH:g.210587947C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	CHR_HG1832_PATCH:g.210587952T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	CHR_HG1832_PATCH:g.210587952T>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr368Met	rs761470224	missense variant	-	CHR_HG1832_PATCH:g.210587957C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala369Thr	rs1250855428	missense variant	-	CHR_HG1832_PATCH:g.210587959G>A	TOPMed
HHAT	Q5VTY9	p.Ala369Val	rs753942041	missense variant	-	CHR_HG1832_PATCH:g.210587960C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met370Ile	rs761768543	missense variant	-	CHR_HG1832_PATCH:g.210587964G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Leu	rs753271439	missense variant	-	CHR_HG1832_PATCH:g.210587962A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Val	rs753271439	missense variant	-	CHR_HG1832_PATCH:g.210587962A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ala	rs778202949	missense variant	-	CHR_HG1832_PATCH:g.210587965A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ile	rs149597734	missense variant	-	CHR_HG1832_PATCH:g.210587966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Ser	rs771134636	missense variant	-	CHR_HG1832_PATCH:g.210587969T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Cys	rs771134636	missense variant	-	CHR_HG1832_PATCH:g.210587969T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Tyr	rs771134636	missense variant	-	CHR_HG1832_PATCH:g.210587969T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala373Thr	rs780907560	missense variant	-	CHR_HG1832_PATCH:g.210587971G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr377Cys	rs745491597	missense variant	-	CHR_HG1832_PATCH:g.210587984A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Cys	rs769492158	missense variant	-	CHR_HG1832_PATCH:g.210587988G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Ter	rs1350371972	stop gained	-	CHR_HG1832_PATCH:g.210587987G>A	TOPMed
HHAT	Q5VTY9	p.Trp378Gly	rs75379612	missense variant	-	CHR_HG1832_PATCH:g.210587986T>G	gnomAD
HHAT	Q5VTY9	p.His379Arg	rs1407130052	missense variant	-	CHR_HG1832_PATCH:g.210587990A>G	TOPMed
HHAT	Q5VTY9	p.His379Tyr	rs191150462	missense variant	-	CHR_HG1832_PATCH:g.210587989C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly380Ser	rs1319221366	missense variant	-	CHR_HG1832_PATCH:g.210587992G>A	gnomAD
HHAT	Q5VTY9	p.Gly381Ser	rs755024350	missense variant	-	CHR_HG1832_PATCH:g.210587995G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr382His	rs1210658100	missense variant	-	CHR_HG1832_PATCH:g.210587998T>C	gnomAD
HHAT	Q5VTY9	p.Asp383Gly	rs148696006	missense variant	-	CHR_HG1832_PATCH:g.210588002A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Ala	rs148696006	missense variant	-	CHR_HG1832_PATCH:g.210588002A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Asn	rs537432647	missense variant	-	CHR_HG1832_PATCH:g.210588001G>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Glu	rs1471597942	missense variant	-	CHR_HG1832_PATCH:g.210588003C>G	TOPMed
HHAT	Q5VTY9	p.Leu385Pro	rs1472535776	missense variant	-	CHR_HG1832_PATCH:g.210588008T>C	gnomAD
HHAT	Q5VTY9	p.Leu385Phe	rs1253211468	missense variant	-	CHR_HG1832_PATCH:g.210588007C>T	gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	CHR_HG1832_PATCH:g.210588012G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	CHR_HG1832_PATCH:g.210588012G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys387Tyr	rs958275249	missense variant	-	CHR_HG1832_PATCH:g.210588014G>A	TOPMed
HHAT	Q5VTY9	p.Cys387Gly	rs1286369938	missense variant	-	CHR_HG1832_PATCH:g.210588013T>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp388Ter	rs759676083	stop gained	-	CHR_HG1832_PATCH:g.210588018G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala389Thr	rs765348085	missense variant	-	CHR_HG1832_PATCH:g.210588019G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala390Val	rs139134333	missense variant	-	CHR_HG1832_PATCH:g.210588023C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala390Glu	rs139134333	missense variant	-	CHR_HG1832_PATCH:g.210588023C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu391Pro	rs1447758274	missense variant	-	CHR_HG1832_PATCH:g.210588026T>C	TOPMed
HHAT	Q5VTY9	p.Leu391Phe	rs1308080230	missense variant	-	CHR_HG1832_PATCH:g.210588025C>T	gnomAD
HHAT	Q5VTY9	p.Asn392Ser	rs145501609	missense variant	-	CHR_HG1832_PATCH:g.210588029A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn392Lys	rs781404828	missense variant	-	CHR_HG1832_PATCH:g.210588030C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp393Ter	rs745572125	stop gained	-	CHR_HG1832_PATCH:g.210588033G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly395Glu	rs1041130066	missense variant	-	CHR_HG1832_PATCH:g.210588038G>A	TOPMed
HHAT	Q5VTY9	p.Val396Ile	rs1329136878	missense variant	-	CHR_HG1832_PATCH:g.210588040G>A	TOPMed
HHAT	Q5VTY9	p.Thr397Ala	rs201464164	missense variant	-	CHR_HG1832_PATCH:g.210588043A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu399Gly	rs1354462659	missense variant	-	CHR_HG1832_PATCH:g.210588050A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ile	rs528513055	missense variant	-	CHR_HG1832_PATCH:g.210588053A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ser	rs528513055	missense variant	-	CHR_HG1832_PATCH:g.210588053A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly401Arg	rs1435366590	missense variant	-	CHR_HG1832_PATCH:g.210588055G>A	TOPMed
HHAT	Q5VTY9	p.Val402Ala	rs147691760	missense variant	-	CHR_HG1832_PATCH:g.210588059T>C	ESP,gnomAD
HHAT	Q5VTY9	p.Arg403Gln	rs368498838	missense variant	-	CHR_HG1832_PATCH:g.210588062G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg403Trp	rs144274904	missense variant	-	CHR_HG1832_PATCH:g.210588061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val406Ala	rs1387194915	missense variant	-	CHR_HG1832_PATCH:g.210588071T>C	TOPMed
HHAT	Q5VTY9	p.Glu407Lys	rs772854695	missense variant	-	CHR_HG1832_PATCH:g.210588073G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr408Ile	rs760410532	missense variant	-	CHR_HG1832_PATCH:g.210588077C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro409Ala	rs765471482	missense variant	-	CHR_HG1832_PATCH:g.210588079C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro409Thr	rs765471482	missense variant	-	CHR_HG1832_PATCH:g.210588079C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp413Ala	rs1190379715	missense variant	-	CHR_HG1832_PATCH:g.210588092A>C	TOPMed
HHAT	Q5VTY9	p.Ser414Arg	rs572645178	missense variant	-	CHR_HG1832_PATCH:g.210588094A>C	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Ala416Thr	rs1274596916	missense variant	-	CHR_HG1832_PATCH:g.210623526G>A	TOPMed
HHAT	Q5VTY9	p.Arg417Gln	rs372287242	missense variant	-	CHR_HG1832_PATCH:g.210623530G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg417Ter	rs767942183	stop gained	-	CHR_HG1832_PATCH:g.210623529C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr418Ter	rs761135455	stop gained	-	CHR_HG1832_PATCH:g.210623534C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser420Thr	rs1400124587	missense variant	-	CHR_HG1832_PATCH:g.210623538T>A	TOPMed
HHAT	Q5VTY9	p.Pro421Leu	rs766841031	missense variant	-	CHR_HG1832_PATCH:g.210623542C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln422Arg	rs147869616	missense variant	-	CHR_HG1832_PATCH:g.210623545A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424His	rs752178549	missense variant	-	CHR_HG1832_PATCH:g.210623551G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424Cys	rs778537110	missense variant	-	CHR_HG1832_PATCH:g.210623550C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg425His	rs777581246	missense variant	-	CHR_HG1832_PATCH:g.210623554G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg425Cys	rs367896407	missense variant	-	CHR_HG1832_PATCH:g.210623553C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Gln	rs371790765	missense variant	-	CHR_HG1832_PATCH:g.210623557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Leu	rs371790765	missense variant	-	CHR_HG1832_PATCH:g.210623557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs770778775	missense variant	-	CHR_HG1832_PATCH:g.210623559T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	CHR_HG1832_PATCH:g.210623561C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	CHR_HG1832_PATCH:g.210623561C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.His428Tyr	rs1267872556	missense variant	-	CHR_HG1832_PATCH:g.210623562C>T	gnomAD
HHAT	Q5VTY9	p.Ala429Thr	rs376491664	missense variant	-	CHR_HG1832_PATCH:g.210623565G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala430Thr	rs1020683342	missense variant	-	CHR_HG1832_PATCH:g.210623568G>A	TOPMed
HHAT	Q5VTY9	p.Ala430Val	rs1246866620	missense variant	-	CHR_HG1832_PATCH:g.210623569C>T	gnomAD
HHAT	Q5VTY9	p.Leu431Arg	rs1327162202	missense variant	-	CHR_HG1832_PATCH:g.210623572T>G	gnomAD
HHAT	Q5VTY9	p.Leu431Phe	rs772132903	missense variant	-	CHR_HG1832_PATCH:g.210623571C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu431Val	rs772132903	missense variant	-	CHR_HG1832_PATCH:g.210623571C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser433Cys	rs1202168184	missense variant	-	CHR_HG1832_PATCH:g.210623578C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr436Ile	rs952228974	missense variant	-	CHR_HG1832_PATCH:g.210623587C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Trp	rs113371678	missense variant	-	CHR_HG1832_PATCH:g.210623590C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Leu	rs113371678	missense variant	-	CHR_HG1832_PATCH:g.210623590C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile440Ser	rs202236243	missense variant	-	CHR_HG1832_PATCH:g.210623599T>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn443Ser	rs759902169	missense variant	-	CHR_HG1832_PATCH:g.210623608A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu444Met	rs764798520	missense variant	-	CHR_HG1832_PATCH:g.210623610C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe446Leu	rs761804644	missense variant	-	CHR_HG1832_PATCH:g.210623616T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu447Pro	rs751537022	missense variant	-	CHR_HG1832_PATCH:g.210623620T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Gly448Glu	rs757163023	missense variant	-	CHR_HG1832_PATCH:g.210623623G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly448Arg	rs1288194139	missense variant	-	CHR_HG1832_PATCH:g.210623622G>A	gnomAD
HHAT	Q5VTY9	p.Gly449Asp	rs112551598	missense variant	-	CHR_HG1832_PATCH:g.210623626G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	CHR_HG1832_PATCH:g.210623629A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	NC_000001.11:g.210623629A>G	UniProt,dbSNP
HHAT	Q5VTY9	p.Asn450Ser	VAR_024745	missense variant	-	NC_000001.11:g.210623629A>G	UniProt
HHAT	Q5VTY9	p.Asn450His	rs1236467255	missense variant	-	CHR_HG1832_PATCH:g.210623628A>C	TOPMed
HHAT	Q5VTY9	p.Gly453Arg	rs779017166	missense variant	-	CHR_HG1832_PATCH:g.210623637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly453Val	rs544741245	missense variant	-	CHR_HG1832_PATCH:g.210623638G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr455Ser	rs1231046147	missense variant	-	CHR_HG1832_PATCH:g.210623644C>G	gnomAD
HHAT	Q5VTY9	p.Thr455Ala	rs1181369040	missense variant	-	CHR_HG1832_PATCH:g.210623643A>G	gnomAD
HHAT	Q5VTY9	p.Tyr456His	rs772114026	missense variant	-	CHR_HG1832_PATCH:g.210623646T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp457Ter	rs773398217	stop gained	-	CHR_HG1832_PATCH:g.210623651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Asn458Thr	rs1414852061	missense variant	-	CHR_HG1832_PATCH:g.210623653A>C	gnomAD
HHAT	Q5VTY9	p.Arg459Gly	rs1404967475	missense variant	-	CHR_HG1832_PATCH:g.210623655A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile460Met	rs1161817788	missense variant	-	CHR_HG1832_PATCH:g.210623660C>G	gnomAD
HHAT	Q5VTY9	p.Phe461Val	rs747570787	missense variant	-	CHR_HG1832_PATCH:g.210623661T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile462Val	rs372765603	missense variant	-	CHR_HG1832_PATCH:g.210623664A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln463His	rs759828685	missense variant	-	CHR_HG1832_PATCH:g.210623669A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly464Ser	rs765617712	missense variant	-	CHR_HG1832_PATCH:g.210623670G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly464Ala	rs1473013625	missense variant	-	CHR_HG1832_PATCH:g.210677645G>C	gnomAD
HHAT	Q5VTY9	p.Gly464Arg	rs765617712	missense variant	-	CHR_HG1832_PATCH:g.210623670G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ser	rs1162782214	missense variant	-	CHR_HG1832_PATCH:g.210677650C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ala	rs1162782214	missense variant	-	CHR_HG1832_PATCH:g.210677650C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp467Ter	rs766141146	stop gained	-	CHR_HG1832_PATCH:g.210677655G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser471Pro	rs1341787711	missense variant	-	CHR_HG1832_PATCH:g.210677665T>C	TOPMed
HHAT	Q5VTY9	p.Tyr479Cys	rs1389282522	missense variant	-	CHR_HG1832_PATCH:g.210677690A>G	gnomAD
HHAT	Q5VTY9	p.Ser480Phe	rs778151421	missense variant	-	CHR_HG1832_PATCH:g.210677693C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Val482Met	rs200853402	missense variant	-	CHR_HG1832_PATCH:g.210677698G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile484Val	rs1489287557	missense variant	-	CHR_HG1832_PATCH:g.210677704A>G	gnomAD
HHAT	Q5VTY9	p.Ile484Thr	rs781297562	missense variant	-	CHR_HG1832_PATCH:g.210677705T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp486Leu	rs145943928	missense variant	-	CHR_HG1832_PATCH:g.210677711G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala487Thr	rs977412599	missense variant	-	CHR_HG1832_PATCH:g.210677713G>A	TOPMed
HHAT	Q5VTY9	p.Thr489Ile	rs770356363	missense variant	-	CHR_HG1832_PATCH:g.210677720C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr489Asn	rs770356363	missense variant	-	CHR_HG1832_PATCH:g.210677720C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala491Thr	rs749666736	missense variant	-	CHR_HG1832_PATCH:g.210677725G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala491Val	rs1194243455	missense variant	-	CHR_HG1832_PATCH:g.210677726C>T	gnomAD
HHAT	Q5VTY9	p.Thr492Met	rs148466987	missense variant	-	CHR_HG1832_PATCH:g.210677729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Asn	rs200680141	missense variant	-	CHR_HG1832_PATCH:g.210677731G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Glu	rs1258511865	missense variant	-	CHR_HG1832_PATCH:g.210677733C>G	TOPMed
HHAT	Q5VTY9	p.Met1Leu	RCV000624001	missense variant	Inborn genetic diseases	NC_000001.11:g.210348976A>T	ClinVar
HHAT	Q5VTY9	p.Leu2Val	rs750211206	missense variant	-	CHR_HG1832_PATCH:g.210348979C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gln	rs758421766	missense variant	-	CHR_HG1832_PATCH:g.210348986G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gly	rs779025178	missense variant	-	CHR_HG1832_PATCH:g.210348985C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg4Ter	rs779025178	stop gained	-	CHR_HG1832_PATCH:g.210348985C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp5Arg	rs777897235	missense variant	-	CHR_HG1832_PATCH:g.210348988T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu6Lys	rs747583836	missense variant	-	CHR_HG1832_PATCH:g.210348991G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala8Thr	rs150162144	missense variant	-	CHR_HG1832_PATCH:g.210348997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu9Ile	rs143903658	missense variant	-	CHR_HG1832_PATCH:g.210349000C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu9Phe	rs143903658	missense variant	-	CHR_HG1832_PATCH:g.210349000C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu12Val	rs1321878496	missense variant	-	CHR_HG1832_PATCH:g.210349009C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala13Val	rs775006103	missense variant	-	CHR_HG1832_PATCH:g.210349013C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Val	rs763566623	missense variant	-	CHR_HG1832_PATCH:g.210349024T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Leu	rs141741088	missense variant	-	CHR_HG1832_PATCH:g.210349026C>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe19Leu	rs761879800	missense variant	-	CHR_HG1832_PATCH:g.210349030T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr20Cys	rs1183312420	missense variant	-	CHR_HG1832_PATCH:g.210349034A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr23Cys	rs138327418	missense variant	-	CHR_HG1832_PATCH:g.210349043A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Phe	rs756004234	missense variant	-	CHR_HG1832_PATCH:g.210349052A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Cys	rs756004234	missense variant	-	CHR_HG1832_PATCH:g.210349052A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys27Arg	rs1454105739	missense variant	-	CHR_HG1832_PATCH:g.210349055A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser29Cys	rs752918841	missense variant	-	CHR_HG1832_PATCH:g.210349061C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu31Asp	rs186282077	missense variant	-	CHR_HG1832_PATCH:g.210362853A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu33Lys	rs751737702	missense variant	-	CHR_HG1832_PATCH:g.210362857G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu34Lys	rs1217467814	missense variant	-	CHR_HG1832_PATCH:g.210362860G>A	gnomAD
HHAT	Q5VTY9	p.Asp37Glu	rs1241555812	missense variant	-	CHR_HG1832_PATCH:g.210362871C>A	gnomAD
HHAT	Q5VTY9	p.Glu39Lys	rs1485201545	missense variant	-	CHR_HG1832_PATCH:g.210362875G>A	gnomAD
HHAT	Q5VTY9	p.Phe40Leu	rs144245212	missense variant	-	CHR_HG1832_PATCH:g.210362880T>A	ESP,TOPMed
HHAT	Q5VTY9	p.Leu42Pro	rs1426396610	missense variant	-	CHR_HG1832_PATCH:g.210362885T>C	gnomAD
HHAT	Q5VTY9	p.Thr46Ser	rs1251088486	missense variant	-	CHR_HG1832_PATCH:g.210362897C>G	TOPMed
HHAT	Q5VTY9	p.Thr46Ala	rs757329992	missense variant	-	CHR_HG1832_PATCH:g.210362896A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Cys	rs201701816	missense variant	-	CHR_HG1832_PATCH:g.210362903T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Tyr	rs201701816	missense variant	-	CHR_HG1832_PATCH:g.210362903T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Ser	rs201701816	missense variant	-	CHR_HG1832_PATCH:g.210362903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly49Arg	rs141591165	missense variant	-	CHR_HG1832_PATCH:g.210362905G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly50Ter	rs756643679	stop gained	-	CHR_HG1832_PATCH:g.210362908G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly50Arg	rs756643679	missense variant	-	CHR_HG1832_PATCH:g.210362908G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys53Glu	rs1438602469	missense variant	-	CHR_HG1832_PATCH:g.210362917A>G	gnomAD
HHAT	Q5VTY9	p.Asp54Val	rs746548984	missense variant	-	CHR_HG1832_PATCH:g.210387469A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Asp54Asn	rs777471907	missense variant	-	CHR_HG1832_PATCH:g.210387468G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala55Val	rs139380328	missense variant	-	CHR_HG1832_PATCH:g.210387472C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr56Asn	rs867091715	missense variant	-	CHR_HG1832_PATCH:g.210387475C>A	TOPMed
HHAT	Q5VTY9	p.Asp57Asn	rs1172717093	missense variant	-	CHR_HG1832_PATCH:g.210387477G>A	gnomAD
HHAT	Q5VTY9	p.Trp60Ter	rs762065926	stop gained	-	CHR_HG1832_PATCH:g.210387487G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp60Arg	rs1326549428	missense variant	-	CHR_HG1832_PATCH:g.210387486T>C	gnomAD
HHAT	Q5VTY9	p.Phe62Ile	rs558364465	missense variant	-	CHR_HG1832_PATCH:g.210387492T>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met64Val	rs773260603	missense variant	-	CHR_HG1832_PATCH:g.210387498A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu65Lys	rs760841342	missense variant	-	CHR_HG1832_PATCH:g.210387501G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp66Ter	rs1280659233	stop gained	-	CHR_HG1832_PATCH:g.210387505G>A	gnomAD
HHAT	Q5VTY9	p.Gln69Arg	rs754382840	missense variant	-	CHR_HG1832_PATCH:g.210387514A>G	ExAC
HHAT	Q5VTY9	p.Gln69Ter	rs1195612827	stop gained	-	CHR_HG1832_PATCH:g.210387513C>T	gnomAD
HHAT	Q5VTY9	p.Val72Gly	rs78052077	missense variant	-	CHR_HG1832_PATCH:g.210387523T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val72Leu	rs1188728045	missense variant	-	CHR_HG1832_PATCH:g.210387522G>T	TOPMed
HHAT	Q5VTY9	p.Val72Glu	rs78052077	missense variant	-	CHR_HG1832_PATCH:g.210387523T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp73Gly	rs753087963	missense variant	-	CHR_HG1832_PATCH:g.210387525T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp73Cys	rs758785739	missense variant	-	CHR_HG1832_PATCH:g.210387527G>T	ExAC
HHAT	Q5VTY9	p.Leu74Val	rs1473937850	missense variant	-	CHR_HG1832_PATCH:g.210387528C>G	gnomAD
HHAT	Q5VTY9	p.Leu75Phe	rs777596666	missense variant	-	CHR_HG1832_PATCH:g.210387531C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Met79Ile	rs1373594134	missense variant	-	CHR_HG1832_PATCH:g.210387545G>A	gnomAD
HHAT	Q5VTY9	p.Met79Thr	rs746572782	missense variant	-	CHR_HG1832_PATCH:g.210387544T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Val80Ile	rs1475019815	missense variant	-	CHR_HG1832_PATCH:g.210387546G>A	gnomAD
HHAT	Q5VTY9	p.Val81Met	rs1165981815	missense variant	-	CHR_HG1832_PATCH:g.210387549G>A	gnomAD
HHAT	Q5VTY9	p.Val81Glu	rs756801763	missense variant	-	CHR_HG1832_PATCH:g.210387550T>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr86Pro	rs192652993	missense variant	-	CHR_HG1832_PATCH:g.210387564A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg90Gly	rs769691809	missense variant	-	CHR_HG1832_PATCH:g.210387576A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.His92Arg	rs1169086872	missense variant	-	CHR_HG1832_PATCH:g.210400469A>G	gnomAD
HHAT	Q5VTY9	p.Pro94His	rs774003816	missense variant	-	CHR_HG1832_PATCH:g.210400475C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro94Arg	rs774003816	missense variant	-	CHR_HG1832_PATCH:g.210400475C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile96Ser	rs1269395595	missense variant	-	CHR_HG1832_PATCH:g.210400481T>G	gnomAD
HHAT	Q5VTY9	p.Tyr100Cys	rs1192812979	missense variant	-	CHR_HG1832_PATCH:g.210400493A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly101Arg	rs776861325	missense variant	-	CHR_HG1832_PATCH:g.210400495G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met102Thr	rs1335123292	missense variant	-	CHR_HG1832_PATCH:g.210400499T>C	TOPMed
HHAT	Q5VTY9	p.Met102Leu	rs769924809	missense variant	-	CHR_HG1832_PATCH:g.210400498A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys105Tyr	rs1364527782	missense variant	-	CHR_HG1832_PATCH:g.210400508G>A	gnomAD
HHAT	Q5VTY9	p.Trp106Cys	rs1453153427	missense variant	-	CHR_HG1832_PATCH:g.210400512G>T	gnomAD
HHAT	Q5VTY9	p.Cys107Phe	rs1156840610	missense variant	-	CHR_HG1832_PATCH:g.210400514G>T	gnomAD
HHAT	Q5VTY9	p.Val108Leu	rs763536701	missense variant	-	CHR_HG1832_PATCH:g.210400516G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly110Arg	rs1307835291	missense variant	-	CHR_HG1832_PATCH:g.210400522G>A	gnomAD
HHAT	Q5VTY9	p.Thr111Asn	rs751842969	missense variant	-	CHR_HG1832_PATCH:g.210400526C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro112Leu	rs145455128	missense variant	-	CHR_HG1832_PATCH:g.210400529C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala115Asp	rs1046862949	missense variant	-	CHR_HG1832_PATCH:g.210400538C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met116Val	rs199828596	missense variant	-	CHR_HG1832_PATCH:g.210400540A>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His120Tyr	rs1231178551	missense variant	-	CHR_HG1832_PATCH:g.210400552C>T	gnomAD
HHAT	Q5VTY9	p.Thr122Ala	rs941269680	missense variant	-	CHR_HG1832_PATCH:g.210400558A>G	TOPMed
HHAT	Q5VTY9	p.Thr122Ile	rs1212970048	missense variant	-	CHR_HG1832_PATCH:g.210400559C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser124Phe	rs1271102309	missense variant	-	CHR_HG1832_PATCH:g.210400565C>T	gnomAD
HHAT	Q5VTY9	p.Ser124Cys	rs1271102309	missense variant	-	CHR_HG1832_PATCH:g.210400565C>G	gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	CHR_HG1832_PATCH:g.210400569C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	CHR_HG1832_PATCH:g.210400569C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys126Gly	rs753831505	missense variant	-	CHR_HG1832_PATCH:g.210400570T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Val127Met	rs375839407	missense variant	-	CHR_HG1832_PATCH:g.210400573G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala128Thr	rs1475853230	missense variant	-	CHR_HG1832_PATCH:g.210400576G>A	gnomAD
HHAT	Q5VTY9	p.Gln129Arg	rs141306397	missense variant	-	CHR_HG1832_PATCH:g.210400580A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln129His	rs545915563	missense variant	-	CHR_HG1832_PATCH:g.210400581G>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe130Leu	rs746026575	missense variant	-	CHR_HG1832_PATCH:g.210400584C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe130Cys	rs781566798	missense variant	-	CHR_HG1832_PATCH:g.210400583T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Gln	rs370012146	missense variant	-	CHR_HG1832_PATCH:g.210400586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Pro	rs370012146	missense variant	-	CHR_HG1832_PATCH:g.210400586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Trp	rs138752308	missense variant	-	CHR_HG1832_PATCH:g.210400585C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln133Ter	rs1440623661	stop gained	-	CHR_HG1832_PATCH:g.210400591C>T	TOPMed
HHAT	Q5VTY9	p.Thr136Ala	rs769025548	missense variant	-	CHR_HG1832_PATCH:g.210400600A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr136Lys	rs376054556	missense variant	-	CHR_HG1832_PATCH:g.210400601C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr136Met	rs376054556	missense variant	-	CHR_HG1832_PATCH:g.210400601C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp137Cys	rs767857766	missense variant	-	CHR_HG1832_PATCH:g.210400605G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys139Arg	rs750090558	missense variant	-	CHR_HG1832_PATCH:g.210400609T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser140Cys	rs760308081	missense variant	-	CHR_HG1832_PATCH:g.210400613C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr146Ile	rs200772379	missense variant	-	CHR_HG1832_PATCH:g.210400631C>T	TOPMed
HHAT	Q5VTY9	p.Thr146Ala	rs765941795	missense variant	-	CHR_HG1832_PATCH:g.210400630A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly151Ser	rs374495612	missense variant	-	CHR_HG1832_PATCH:g.210400645G>A	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu153Lys	rs753322887	missense variant	-	CHR_HG1832_PATCH:g.210400651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val155Ile	rs754462235	missense variant	-	CHR_HG1832_PATCH:g.210400657G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg157Thr	rs1055755703	missense variant	-	CHR_HG1832_PATCH:g.210404465G>C	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys161Gln	rs764017113	missense variant	-	CHR_HG1832_PATCH:g.210404476A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn164Asp	rs748514239	missense variant	-	CHR_HG1832_PATCH:g.210404485A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu165Lys	rs374048677	missense variant	-	CHR_HG1832_PATCH:g.210404488G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr172Met	rs139483274	missense variant	-	CHR_HG1832_PATCH:g.210404510C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr174Ile	rs747405504	missense variant	-	CHR_HG1832_PATCH:g.210404516C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr174Ser	rs1365991028	missense variant	-	CHR_HG1832_PATCH:g.210404515A>T	gnomAD
HHAT	Q5VTY9	p.Val175Ile	rs776159715	missense variant	-	CHR_HG1832_PATCH:g.210404518G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg176Cys	rs567439002	missense variant	-	CHR_HG1832_PATCH:g.210404521C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176His	rs145435771	missense variant	-	CHR_HG1832_PATCH:g.210404522G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176Leu	rs145435771	missense variant	-	CHR_HG1832_PATCH:g.210404522G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys177Tyr	rs775030191	missense variant	-	CHR_HG1832_PATCH:g.210404525G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu178Val	rs1374615080	missense variant	-	CHR_HG1832_PATCH:g.210404527C>G	TOPMed
HHAT	Q5VTY9	p.Tyr179Cys	rs535833711	missense variant	-	CHR_HG1832_PATCH:g.210404531A>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr181Asn	rs765901690	missense variant	-	CHR_HG1832_PATCH:g.210404537C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr181Ile	rs765901690	missense variant	-	CHR_HG1832_PATCH:g.210404537C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	CHR_HG1832_PATCH:g.210404540G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	NC_000001.11:g.210404540G>A	UniProt,dbSNP
HHAT	Q5VTY9	p.Ser182Asn	VAR_024743	missense variant	-	NC_000001.11:g.210404540G>A	UniProt
HHAT	Q5VTY9	p.Ser184Ile	rs1206506032	missense variant	-	CHR_HG1832_PATCH:g.210404546G>T	gnomAD
HHAT	Q5VTY9	p.Leu185Val	rs755225544	missense variant	-	CHR_HG1832_PATCH:g.210404548C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys188Arg	rs34228541	missense variant	-	CHR_HG1832_PATCH:g.210404557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu192Pro	rs955610159	missense variant	-	CHR_HG1832_PATCH:g.210404570T>C	TOPMed
HHAT	Q5VTY9	p.Pro193Arg	rs758432747	missense variant	-	CHR_HG1832_PATCH:g.210404573C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro193Leu	rs758432747	missense variant	-	CHR_HG1832_PATCH:g.210404573C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser196Leu	rs376601925	missense variant	-	CHR_HG1832_PATCH:g.210404582C>T	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr197Pro	rs1327760185	missense variant	-	CHR_HG1832_PATCH:g.210404584A>C	gnomAD
HHAT	Q5VTY9	p.Tyr199Cys	rs747455697	missense variant	-	CHR_HG1832_PATCH:g.210404591A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser200Phe	rs781614202	missense variant	-	CHR_HG1832_PATCH:g.210404594C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser200Pro	rs771340497	missense variant	-	CHR_HG1832_PATCH:g.210404593T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro202Ser	rs1219742764	missense variant	-	CHR_HG1832_PATCH:g.210404599C>T	gnomAD
HHAT	Q5VTY9	p.Ala206Thr	rs1234274214	missense variant	-	CHR_HG1832_PATCH:g.210404611G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr207Cys	rs1176162825	missense variant	-	CHR_HG1832_PATCH:g.210404615A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Tyr	rs769462211	missense variant	-	CHR_HG1832_PATCH:g.210404621T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Leu	rs1393561796	missense variant	-	CHR_HG1832_PATCH:g.210404622T>G	gnomAD
HHAT	Q5VTY9	p.Tyr210Ser	rs774960950	missense variant	-	CHR_HG1832_PATCH:g.210404624A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr210His	rs1459691356	missense variant	-	CHR_HG1832_PATCH:g.210404623T>C	gnomAD
HHAT	Q5VTY9	p.Tyr210Cys	rs774960950	missense variant	-	CHR_HG1832_PATCH:g.210404624A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr211His	rs1165960690	missense variant	-	CHR_HG1832_PATCH:g.210404626T>C	gnomAD
HHAT	Q5VTY9	p.Pro212Leu	rs768217049	missense variant	-	CHR_HG1832_PATCH:g.210404630C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.His215Arg	rs1443167558	missense variant	-	CHR_HG1832_PATCH:g.210404639A>G	gnomAD
HHAT	Q5VTY9	p.Asn216Ser	rs1048728289	missense variant	-	CHR_HG1832_PATCH:g.210404642A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe222Leu	rs147320835	missense variant	-	CHR_HG1832_PATCH:g.210404659T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser223Leu	rs767486877	missense variant	-	CHR_HG1832_PATCH:g.210404663C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu224Asp	rs965938188	missense variant	-	CHR_HG1832_PATCH:g.210404667G>C	gnomAD
HHAT	Q5VTY9	p.Phe225Val	rs750203730	missense variant	-	CHR_HG1832_PATCH:g.210404668T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys227Arg	rs1328074882	missense variant	-	CHR_HG1832_PATCH:g.210404675A>G	TOPMed
HHAT	Q5VTY9	p.Gln228Arg	rs1203362333	missense variant	-	CHR_HG1832_PATCH:g.210404678A>G	gnomAD
HHAT	Q5VTY9	p.Met229Leu	rs1394872962	missense variant	-	CHR_HG1832_PATCH:g.210418154A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Ter	rs749015922	stop gained	-	CHR_HG1832_PATCH:g.210418160C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Lys	rs749015922	missense variant	-	CHR_HG1832_PATCH:g.210418160C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Pro	rs778617403	missense variant	-	CHR_HG1832_PATCH:g.210418161A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gln231Glu	rs749015922	missense variant	-	CHR_HG1832_PATCH:g.210418160C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His234Tyr	rs1231520076	missense variant	-	CHR_HG1832_PATCH:g.210418169C>T	TOPMed
HHAT	Q5VTY9	p.Asp235Asn	rs771415014	missense variant	-	CHR_HG1832_PATCH:g.210418172G>A	ExAC
HHAT	Q5VTY9	p.Ser236Phe	rs773212620	missense variant	-	CHR_HG1832_PATCH:g.210418176C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu237Met	rs746907598	missense variant	-	CHR_HG1832_PATCH:g.210418178C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu241Gln	rs376960795	missense variant	-	CHR_HG1832_PATCH:g.210418191T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Gly	rs200438732	missense variant	-	CHR_HG1832_PATCH:g.210418193T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Tyr	rs374579980	missense variant	-	CHR_HG1832_PATCH:g.210418194G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys242Arg	rs200438732	missense variant	-	CHR_HG1832_PATCH:g.210418193T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val243Ala	rs1284891579	missense variant	-	CHR_HG1832_PATCH:g.210418197T>C	gnomAD
HHAT	Q5VTY9	p.Ala245Gly	rs764319347	missense variant	-	CHR_HG1832_PATCH:g.210418203C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Val	rs764319347	missense variant	-	CHR_HG1832_PATCH:g.210418203C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Asp	rs764319347	missense variant	-	CHR_HG1832_PATCH:g.210418203C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly247Arg	rs767440738	missense variant	-	CHR_HG1832_PATCH:g.210418208G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly249Ser	rs368531187	missense variant	-	CHR_HG1832_PATCH:g.210418214G>A	ESP,TOPMed
HHAT	Q5VTY9	p.Arg250Pro	rs148639278	missense variant	-	CHR_HG1832_PATCH:g.210418218G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250Cys	rs766891856	missense variant	-	CHR_HG1832_PATCH:g.210418217C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250His	rs148639278	missense variant	-	CHR_HG1832_PATCH:g.210418218G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp254Ser	rs778740258	missense variant	-	CHR_HG1832_PATCH:g.210418230G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp254Ter	rs987044311	stop gained	-	CHR_HG1832_PATCH:g.210418231G>A	TOPMed
HHAT	Q5VTY9	p.Trp255Ter	rs1021644358	stop gained	-	CHR_HG1832_PATCH:g.210418233G>A	gnomAD
HHAT	Q5VTY9	p.Trp255Leu	rs1021644358	missense variant	-	CHR_HG1832_PATCH:g.210418233G>T	gnomAD
HHAT	Q5VTY9	p.Trp256Ter	rs372024732	stop gained	-	CHR_HG1832_PATCH:g.210418237G>A	ESP,gnomAD
HHAT	Q5VTY9	p.Ala258Thr	rs747743664	missense variant	-	CHR_HG1832_PATCH:g.210418241G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala258Val	rs757984265	missense variant	-	CHR_HG1832_PATCH:g.210418242C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu259Lys	rs770748303	missense variant	-	CHR_HG1832_PATCH:g.210418244G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His263Gln	rs576213719	missense variant	-	CHR_HG1832_PATCH:g.210418258C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu264Met	rs745691529	missense variant	-	CHR_HG1832_PATCH:g.210418259C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu264Pro	rs769514962	missense variant	-	CHR_HG1832_PATCH:g.210418260T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met265Val	rs375086953	missense variant	-	CHR_HG1832_PATCH:g.210418262A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr266Asp	rs543648313	missense variant	-	CHR_HG1832_PATCH:g.210418265T>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr266Asn	rs543648313	missense variant	-	CHR_HG1832_PATCH:g.210418265T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Met267Ile	rs767706148	missense variant	-	CHR_HG1832_PATCH:g.210418270G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile270Phe	rs1274887070	missense variant	-	CHR_HG1832_PATCH:g.210418277A>T	gnomAD
HHAT	Q5VTY9	p.Tyr271Cys	rs1468755372	missense variant	-	CHR_HG1832_PATCH:g.210418281A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser273Asn	rs1408361995	missense variant	-	CHR_HG1832_PATCH:g.210418287G>A	gnomAD
HHAT	Q5VTY9	p.Leu276Ile	rs761293868	missense variant	-	CHR_HG1832_PATCH:g.210418295C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu276Val	rs761293868	missense variant	-	CHR_HG1832_PATCH:g.210418295C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu278Asp	rs561841936	missense variant	-	CHR_HG1832_PATCH:g.210418303G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys282Ser	rs754359000	missense variant	-	CHR_HG1832_PATCH:g.210418314G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys282Phe	rs754359000	missense variant	-	CHR_HG1832_PATCH:g.210418314G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly287Val	rs1173716957	missense variant	-	CHR_HG1832_PATCH:g.210464508G>T	TOPMed
HHAT	Q5VTY9	p.Gly287Ter	rs1310390993	stop gained	-	CHR_HG1832_PATCH:g.210464507G>T	gnomAD
HHAT	Q5VTY9	p.Leu288Val	rs1435982918	missense variant	-	CHR_HG1832_PATCH:g.210464510C>G	TOPMed
HHAT	Q5VTY9	p.Ala289Val	rs192286679	missense variant	-	CHR_HG1832_PATCH:g.210464514C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln292Arg	rs1475643148	missense variant	-	CHR_HG1832_PATCH:g.210464523A>G	TOPMed
HHAT	Q5VTY9	p.Val293Glu	rs1243613343	missense variant	-	CHR_HG1832_PATCH:g.210464526T>A	TOPMed
HHAT	Q5VTY9	p.Phe295Ser	rs1018558976	missense variant	-	CHR_HG1832_PATCH:g.210464532T>C	TOPMed
HHAT	Q5VTY9	p.Phe296Leu	rs1341668706	missense variant	-	CHR_HG1832_PATCH:g.210464536C>G	gnomAD
HHAT	Q5VTY9	p.Tyr297Cys	rs1487919886	missense variant	-	CHR_HG1832_PATCH:g.210464538A>G	TOPMed
HHAT	Q5VTY9	p.Val298Met	rs967141075	missense variant	-	CHR_HG1832_PATCH:g.210464540G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys299Gln	rs144173927	missense variant	-	CHR_HG1832_PATCH:g.210464543A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys299Thr	rs1181785857	missense variant	-	CHR_HG1832_PATCH:g.210464544A>C	gnomAD
HHAT	Q5VTY9	p.Tyr300His	rs756776629	missense variant	-	CHR_HG1832_PATCH:g.210464546T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr300Cys	rs541167454	missense variant	-	CHR_HG1832_PATCH:g.210464547A>G	TOPMed
HHAT	Q5VTY9	p.Val302Ala	rs780669166	missense variant	-	CHR_HG1832_PATCH:g.210464553T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Leu303Phe	rs1389201461	missense variant	-	CHR_HG1832_PATCH:g.210464555C>T	gnomAD
HHAT	Q5VTY9	p.Val306Leu	rs779948186	missense variant	-	CHR_HG1832_PATCH:g.210464564G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val306Met	rs779948186	missense variant	-	CHR_HG1832_PATCH:g.210464564G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro307Leu	rs749060244	missense variant	-	CHR_HG1832_PATCH:g.210464568C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu310Pro	rs1296554350	missense variant	-	CHR_HG1832_PATCH:g.210464577T>C	gnomAD
HHAT	Q5VTY9	p.Met311Thr	rs200901586	missense variant	-	CHR_HG1832_PATCH:g.210464580T>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312His	rs34362403	missense variant	-	CHR_HG1832_PATCH:g.210464583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Ser	rs777865030	missense variant	-	CHR_HG1832_PATCH:g.210464582C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Cys	rs777865030	missense variant	-	CHR_HG1832_PATCH:g.210464582C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp314Asn	rs1463422784	missense variant	-	CHR_HG1832_PATCH:g.210464588G>A	gnomAD
HHAT	Q5VTY9	p.Asp314Glu	rs1209434701	missense variant	-	CHR_HG1832_PATCH:g.210464590T>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr317Ala	rs1254789301	missense variant	-	CHR_HG1832_PATCH:g.210464597A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr317Ile	rs771201072	missense variant	-	CHR_HG1832_PATCH:g.210464598C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro318Leu	rs1026211141	missense variant	-	CHR_HG1832_PATCH:g.210464601C>T	TOPMed
HHAT	Q5VTY9	p.Pro319Ser	rs770442814	missense variant	-	CHR_HG1832_PATCH:g.210464603C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala320Thr	rs143700139	missense variant	-	CHR_HG1832_PATCH:g.210464606G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Ser	rs143700139	missense variant	-	CHR_HG1832_PATCH:g.210464606G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Pro	rs143700139	missense variant	-	CHR_HG1832_PATCH:g.210464606G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu321Phe	rs534915659	missense variant	-	CHR_HG1832_PATCH:g.210464609C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Pro322Leu	rs761454249	missense variant	-	CHR_HG1832_PATCH:g.210464613C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro322Ser	rs773936014	missense variant	-	CHR_HG1832_PATCH:g.210464612C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Cys	rs146916002	missense variant	-	CHR_HG1832_PATCH:g.210464615C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Ser	rs146916002	missense variant	-	CHR_HG1832_PATCH:g.210464615C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323His	rs749916241	missense variant	-	CHR_HG1832_PATCH:g.210464616G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val325Met	rs766259679	missense variant	-	CHR_HG1832_PATCH:g.210464621G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser326Arg	rs1305915605	missense variant	-	CHR_HG1832_PATCH:g.210464624A>C	gnomAD
HHAT	Q5VTY9	p.Ser326Asn	rs1310979158	missense variant	-	CHR_HG1832_PATCH:g.210464625G>A	gnomAD
HHAT	Q5VTY9	p.Thr327Ala	rs753743106	missense variant	-	CHR_HG1832_PATCH:g.210464627A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met328Ile	rs369156629	missense variant	-	CHR_HG1832_PATCH:g.210464632G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Gly	rs1319305222	missense variant	-	CHR_HG1832_PATCH:g.210464636A>G	gnomAD
HHAT	Q5VTY9	p.Ser330Asn	rs778762203	missense variant	-	CHR_HG1832_PATCH:g.210464637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Thr	rs778762203	missense variant	-	CHR_HG1832_PATCH:g.210464637G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr332Ile	rs1267974210	missense variant	-	CHR_HG1832_PATCH:g.210464643C>T	gnomAD
HHAT	Q5VTY9	p.Gly333Arg	rs61744143	missense variant	-	CHR_HG1832_PATCH:g.210464645G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Lys	rs1418277029	missense variant	-	CHR_HG1832_PATCH:g.210464649T>A	TOPMed
HHAT	Q5VTY9	p.Met334Leu	rs1477472411	missense variant	-	CHR_HG1832_PATCH:g.210464648A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Val	rs1477472411	missense variant	-	CHR_HG1832_PATCH:g.210464648A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg336Ser	rs774794788	missense variant	-	CHR_HG1832_PATCH:g.210513153G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr337His	rs1480552168	missense variant	-	CHR_HG1832_PATCH:g.210513154T>C	TOPMed
HHAT	Q5VTY9	p.Asp339Glu	rs1486645557	missense variant	-	CHR_HG1832_PATCH:g.210513162T>A	gnomAD
HHAT	Q5VTY9	p.Val340Ile	rs748544351	missense variant	-	CHR_HG1832_PATCH:g.210513163G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val340Ala	rs1236766012	missense variant	-	CHR_HG1832_PATCH:g.210513164T>C	gnomAD
HHAT	Q5VTY9	p.His343Tyr	rs1471698324	missense variant	-	CHR_HG1832_PATCH:g.210513172C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	CHR_HG1832_PATCH:g.210587898G>C	TOPMed
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	CHR_HG1832_PATCH:g.210587898G>T	TOPMed
HHAT	Q5VTY9	p.Arg348Thr	rs1430616111	missense variant	-	CHR_HG1832_PATCH:g.210513188G>C	gnomAD
HHAT	Q5VTY9	p.Val350Glu	rs529893253	missense variant	-	CHR_HG1832_PATCH:g.210587903T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr351Cys	rs1413244904	missense variant	-	CHR_HG1832_PATCH:g.210587906A>G	gnomAD
HHAT	Q5VTY9	p.Ile352Leu	rs778078227	missense variant	-	CHR_HG1832_PATCH:g.210587908A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile352Val	rs778078227	missense variant	-	CHR_HG1832_PATCH:g.210587908A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro353Ser	rs746687297	missense variant	-	CHR_HG1832_PATCH:g.210587911C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly355Ser	rs768820197	missense variant	-	CHR_HG1832_PATCH:g.210587917G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly356Arg	rs776106560	missense variant	-	CHR_HG1832_PATCH:g.210587920G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser357Cys	rs1336939401	missense variant	-	CHR_HG1832_PATCH:g.210587924C>G	TOPMed
HHAT	Q5VTY9	p.Gln358Arg	rs1331461975	missense variant	-	CHR_HG1832_PATCH:g.210587927A>G	TOPMed
HHAT	Q5VTY9	p.His359Tyr	rs1390109673	missense variant	-	CHR_HG1832_PATCH:g.210587929C>T	TOPMed
HHAT	Q5VTY9	p.Leu361Met	rs775624263	missense variant	-	CHR_HG1832_PATCH:g.210587935C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu362Arg	rs1189204348	missense variant	-	CHR_HG1832_PATCH:g.210587939T>G	gnomAD
HHAT	Q5VTY9	p.Leu365Arg	rs1472183131	missense variant	-	CHR_HG1832_PATCH:g.210587948T>G	TOPMed
HHAT	Q5VTY9	p.Leu365Val	rs1206534082	missense variant	-	CHR_HG1832_PATCH:g.210587947C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	CHR_HG1832_PATCH:g.210587952T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	CHR_HG1832_PATCH:g.210587952T>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr368Met	rs761470224	missense variant	-	CHR_HG1832_PATCH:g.210587957C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala369Thr	rs1250855428	missense variant	-	CHR_HG1832_PATCH:g.210587959G>A	TOPMed
HHAT	Q5VTY9	p.Ala369Val	rs753942041	missense variant	-	CHR_HG1832_PATCH:g.210587960C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met370Val	rs753271439	missense variant	-	CHR_HG1832_PATCH:g.210587962A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Ile	rs761768543	missense variant	-	CHR_HG1832_PATCH:g.210587964G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Leu	rs753271439	missense variant	-	CHR_HG1832_PATCH:g.210587962A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ala	rs778202949	missense variant	-	CHR_HG1832_PATCH:g.210587965A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ile	rs149597734	missense variant	-	CHR_HG1832_PATCH:g.210587966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Ser	rs771134636	missense variant	-	CHR_HG1832_PATCH:g.210587969T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Cys	rs771134636	missense variant	-	CHR_HG1832_PATCH:g.210587969T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Tyr	rs771134636	missense variant	-	CHR_HG1832_PATCH:g.210587969T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala373Thr	rs780907560	missense variant	-	CHR_HG1832_PATCH:g.210587971G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr377Cys	rs745491597	missense variant	-	CHR_HG1832_PATCH:g.210587984A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Cys	rs769492158	missense variant	-	CHR_HG1832_PATCH:g.210587988G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Gly	rs75379612	missense variant	-	CHR_HG1832_PATCH:g.210587986T>G	gnomAD
HHAT	Q5VTY9	p.Trp378Ter	rs1350371972	stop gained	-	CHR_HG1832_PATCH:g.210587987G>A	TOPMed
HHAT	Q5VTY9	p.His379Arg	rs1407130052	missense variant	-	CHR_HG1832_PATCH:g.210587990A>G	TOPMed
HHAT	Q5VTY9	p.His379Tyr	rs191150462	missense variant	-	CHR_HG1832_PATCH:g.210587989C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly380Ser	rs1319221366	missense variant	-	CHR_HG1832_PATCH:g.210587992G>A	gnomAD
HHAT	Q5VTY9	p.Gly381Ser	rs755024350	missense variant	-	CHR_HG1832_PATCH:g.210587995G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr382His	rs1210658100	missense variant	-	CHR_HG1832_PATCH:g.210587998T>C	gnomAD
HHAT	Q5VTY9	p.Asp383Gly	rs148696006	missense variant	-	CHR_HG1832_PATCH:g.210588002A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Asn	rs537432647	missense variant	-	CHR_HG1832_PATCH:g.210588001G>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Ala	rs148696006	missense variant	-	CHR_HG1832_PATCH:g.210588002A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Glu	rs1471597942	missense variant	-	CHR_HG1832_PATCH:g.210588003C>G	TOPMed
HHAT	Q5VTY9	p.Leu385Pro	rs1472535776	missense variant	-	CHR_HG1832_PATCH:g.210588008T>C	gnomAD
HHAT	Q5VTY9	p.Leu385Phe	rs1253211468	missense variant	-	CHR_HG1832_PATCH:g.210588007C>T	gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	CHR_HG1832_PATCH:g.210588012G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	CHR_HG1832_PATCH:g.210588012G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys387Tyr	rs958275249	missense variant	-	CHR_HG1832_PATCH:g.210588014G>A	TOPMed
HHAT	Q5VTY9	p.Cys387Gly	rs1286369938	missense variant	-	CHR_HG1832_PATCH:g.210588013T>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp388Ter	rs759676083	stop gained	-	CHR_HG1832_PATCH:g.210588018G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala389Thr	rs765348085	missense variant	-	CHR_HG1832_PATCH:g.210588019G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala390Val	rs139134333	missense variant	-	CHR_HG1832_PATCH:g.210588023C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala390Glu	rs139134333	missense variant	-	CHR_HG1832_PATCH:g.210588023C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu391Phe	rs1308080230	missense variant	-	CHR_HG1832_PATCH:g.210588025C>T	gnomAD
HHAT	Q5VTY9	p.Leu391Pro	rs1447758274	missense variant	-	CHR_HG1832_PATCH:g.210588026T>C	TOPMed
HHAT	Q5VTY9	p.Asn392Ser	rs145501609	missense variant	-	CHR_HG1832_PATCH:g.210588029A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn392Lys	rs781404828	missense variant	-	CHR_HG1832_PATCH:g.210588030C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp393Ter	rs745572125	stop gained	-	CHR_HG1832_PATCH:g.210588033G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly395Glu	rs1041130066	missense variant	-	CHR_HG1832_PATCH:g.210588038G>A	TOPMed
HHAT	Q5VTY9	p.Val396Ile	rs1329136878	missense variant	-	CHR_HG1832_PATCH:g.210588040G>A	TOPMed
HHAT	Q5VTY9	p.Thr397Ala	rs201464164	missense variant	-	CHR_HG1832_PATCH:g.210588043A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu399Gly	rs1354462659	missense variant	-	CHR_HG1832_PATCH:g.210588050A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ile	rs528513055	missense variant	-	CHR_HG1832_PATCH:g.210588053A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ser	rs528513055	missense variant	-	CHR_HG1832_PATCH:g.210588053A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly401Arg	rs1435366590	missense variant	-	CHR_HG1832_PATCH:g.210588055G>A	TOPMed
HHAT	Q5VTY9	p.Val402Ala	rs147691760	missense variant	-	CHR_HG1832_PATCH:g.210588059T>C	ESP,gnomAD
HHAT	Q5VTY9	p.Arg403Gln	rs368498838	missense variant	-	CHR_HG1832_PATCH:g.210588062G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg403Trp	rs144274904	missense variant	-	CHR_HG1832_PATCH:g.210588061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val406Ala	rs1387194915	missense variant	-	CHR_HG1832_PATCH:g.210588071T>C	TOPMed
HHAT	Q5VTY9	p.Glu407Lys	rs772854695	missense variant	-	CHR_HG1832_PATCH:g.210588073G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr408Ile	rs760410532	missense variant	-	CHR_HG1832_PATCH:g.210588077C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro409Thr	rs765471482	missense variant	-	CHR_HG1832_PATCH:g.210588079C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro409Ala	rs765471482	missense variant	-	CHR_HG1832_PATCH:g.210588079C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp413Ala	rs1190379715	missense variant	-	CHR_HG1832_PATCH:g.210588092A>C	TOPMed
HHAT	Q5VTY9	p.Ser414Arg	rs572645178	missense variant	-	CHR_HG1832_PATCH:g.210588094A>C	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Ala416Thr	rs1274596916	missense variant	-	CHR_HG1832_PATCH:g.210623526G>A	TOPMed
HHAT	Q5VTY9	p.Arg417Gln	rs372287242	missense variant	-	CHR_HG1832_PATCH:g.210623530G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg417Ter	rs767942183	stop gained	-	CHR_HG1832_PATCH:g.210623529C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr418Ter	rs761135455	stop gained	-	CHR_HG1832_PATCH:g.210623534C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser420Thr	rs1400124587	missense variant	-	CHR_HG1832_PATCH:g.210623538T>A	TOPMed
HHAT	Q5VTY9	p.Pro421Leu	rs766841031	missense variant	-	CHR_HG1832_PATCH:g.210623542C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln422Arg	rs147869616	missense variant	-	CHR_HG1832_PATCH:g.210623545A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424His	rs752178549	missense variant	-	CHR_HG1832_PATCH:g.210623551G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424Cys	rs778537110	missense variant	-	CHR_HG1832_PATCH:g.210623550C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg425His	rs777581246	missense variant	-	CHR_HG1832_PATCH:g.210623554G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg425Cys	rs367896407	missense variant	-	CHR_HG1832_PATCH:g.210623553C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Gln	rs371790765	missense variant	-	CHR_HG1832_PATCH:g.210623557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Leu	rs371790765	missense variant	-	CHR_HG1832_PATCH:g.210623557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	CHR_HG1832_PATCH:g.210623561C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs770778775	missense variant	-	CHR_HG1832_PATCH:g.210623559T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	CHR_HG1832_PATCH:g.210623561C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.His428Tyr	rs1267872556	missense variant	-	CHR_HG1832_PATCH:g.210623562C>T	gnomAD
HHAT	Q5VTY9	p.Ala429Thr	rs376491664	missense variant	-	CHR_HG1832_PATCH:g.210623565G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala430Thr	rs1020683342	missense variant	-	CHR_HG1832_PATCH:g.210623568G>A	TOPMed
HHAT	Q5VTY9	p.Ala430Val	rs1246866620	missense variant	-	CHR_HG1832_PATCH:g.210623569C>T	gnomAD
HHAT	Q5VTY9	p.Leu431Phe	rs772132903	missense variant	-	CHR_HG1832_PATCH:g.210623571C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu431Val	rs772132903	missense variant	-	CHR_HG1832_PATCH:g.210623571C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu431Arg	rs1327162202	missense variant	-	CHR_HG1832_PATCH:g.210623572T>G	gnomAD
HHAT	Q5VTY9	p.Ser433Cys	rs1202168184	missense variant	-	CHR_HG1832_PATCH:g.210623578C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr436Ile	rs952228974	missense variant	-	CHR_HG1832_PATCH:g.210623587C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Leu	rs113371678	missense variant	-	CHR_HG1832_PATCH:g.210623590C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Trp	rs113371678	missense variant	-	CHR_HG1832_PATCH:g.210623590C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile440Ser	rs202236243	missense variant	-	CHR_HG1832_PATCH:g.210623599T>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn443Ser	rs759902169	missense variant	-	CHR_HG1832_PATCH:g.210623608A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu444Met	rs764798520	missense variant	-	CHR_HG1832_PATCH:g.210623610C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe446Leu	rs761804644	missense variant	-	CHR_HG1832_PATCH:g.210623616T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu447Pro	rs751537022	missense variant	-	CHR_HG1832_PATCH:g.210623620T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Gly448Glu	rs757163023	missense variant	-	CHR_HG1832_PATCH:g.210623623G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly448Arg	rs1288194139	missense variant	-	CHR_HG1832_PATCH:g.210623622G>A	gnomAD
HHAT	Q5VTY9	p.Gly449Asp	rs112551598	missense variant	-	CHR_HG1832_PATCH:g.210623626G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450His	rs1236467255	missense variant	-	CHR_HG1832_PATCH:g.210623628A>C	TOPMed
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	NC_000001.11:g.210623629A>G	UniProt,dbSNP
HHAT	Q5VTY9	p.Asn450Ser	VAR_024745	missense variant	-	NC_000001.11:g.210623629A>G	UniProt
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	CHR_HG1832_PATCH:g.210623629A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly453Arg	rs779017166	missense variant	-	CHR_HG1832_PATCH:g.210623637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly453Val	rs544741245	missense variant	-	CHR_HG1832_PATCH:g.210623638G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr455Ala	rs1181369040	missense variant	-	CHR_HG1832_PATCH:g.210623643A>G	gnomAD
HHAT	Q5VTY9	p.Thr455Ser	rs1231046147	missense variant	-	CHR_HG1832_PATCH:g.210623644C>G	gnomAD
HHAT	Q5VTY9	p.Tyr456His	rs772114026	missense variant	-	CHR_HG1832_PATCH:g.210623646T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp457Ter	rs773398217	stop gained	-	CHR_HG1832_PATCH:g.210623651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Asn458Thr	rs1414852061	missense variant	-	CHR_HG1832_PATCH:g.210623653A>C	gnomAD
HHAT	Q5VTY9	p.Arg459Gly	rs1404967475	missense variant	-	CHR_HG1832_PATCH:g.210623655A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile460Met	rs1161817788	missense variant	-	CHR_HG1832_PATCH:g.210623660C>G	gnomAD
HHAT	Q5VTY9	p.Phe461Val	rs747570787	missense variant	-	CHR_HG1832_PATCH:g.210623661T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile462Val	rs372765603	missense variant	-	CHR_HG1832_PATCH:g.210623664A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln463His	rs759828685	missense variant	-	CHR_HG1832_PATCH:g.210623669A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly464Ser	rs765617712	missense variant	-	CHR_HG1832_PATCH:g.210623670G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly464Ala	rs1473013625	missense variant	-	CHR_HG1832_PATCH:g.210677645G>C	gnomAD
HHAT	Q5VTY9	p.Gly464Arg	rs765617712	missense variant	-	CHR_HG1832_PATCH:g.210623670G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ser	rs1162782214	missense variant	-	CHR_HG1832_PATCH:g.210677650C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ala	rs1162782214	missense variant	-	CHR_HG1832_PATCH:g.210677650C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp467Ter	rs766141146	stop gained	-	CHR_HG1832_PATCH:g.210677655G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser471Pro	rs1341787711	missense variant	-	CHR_HG1832_PATCH:g.210677665T>C	TOPMed
HHAT	Q5VTY9	p.Tyr479Cys	rs1389282522	missense variant	-	CHR_HG1832_PATCH:g.210677690A>G	gnomAD
HHAT	Q5VTY9	p.Ser480Phe	rs778151421	missense variant	-	CHR_HG1832_PATCH:g.210677693C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Val482Met	rs200853402	missense variant	-	CHR_HG1832_PATCH:g.210677698G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile484Val	rs1489287557	missense variant	-	CHR_HG1832_PATCH:g.210677704A>G	gnomAD
HHAT	Q5VTY9	p.Ile484Thr	rs781297562	missense variant	-	CHR_HG1832_PATCH:g.210677705T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp486Leu	rs145943928	missense variant	-	CHR_HG1832_PATCH:g.210677711G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala487Thr	rs977412599	missense variant	-	CHR_HG1832_PATCH:g.210677713G>A	TOPMed
HHAT	Q5VTY9	p.Thr489Asn	rs770356363	missense variant	-	CHR_HG1832_PATCH:g.210677720C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr489Ile	rs770356363	missense variant	-	CHR_HG1832_PATCH:g.210677720C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala491Thr	rs749666736	missense variant	-	CHR_HG1832_PATCH:g.210677725G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala491Val	rs1194243455	missense variant	-	CHR_HG1832_PATCH:g.210677726C>T	gnomAD
HHAT	Q5VTY9	p.Thr492Met	rs148466987	missense variant	-	CHR_HG1832_PATCH:g.210677729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Asn	rs200680141	missense variant	-	CHR_HG1832_PATCH:g.210677731G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Glu	rs1258511865	missense variant	-	CHR_HG1832_PATCH:g.210677733C>G	TOPMed
HHAT	Q5VTY9	p.Met1Leu	RCV000624001	missense variant	Inborn genetic diseases	NC_000001.11:g.210348976A>T	ClinVar
HHAT	Q5VTY9	p.Leu2Val	rs750211206	missense variant	-	CHR_HG1832_PATCH:g.210348979C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gln	rs758421766	missense variant	-	CHR_HG1832_PATCH:g.210348986G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg4Gly	rs779025178	missense variant	-	CHR_HG1832_PATCH:g.210348985C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg4Ter	rs779025178	stop gained	-	CHR_HG1832_PATCH:g.210348985C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp5Arg	rs777897235	missense variant	-	CHR_HG1832_PATCH:g.210348988T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu6Lys	rs747583836	missense variant	-	CHR_HG1832_PATCH:g.210348991G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala8Thr	rs150162144	missense variant	-	CHR_HG1832_PATCH:g.210348997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu9Ile	rs143903658	missense variant	-	CHR_HG1832_PATCH:g.210349000C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu9Phe	rs143903658	missense variant	-	CHR_HG1832_PATCH:g.210349000C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu12Val	rs1321878496	missense variant	-	CHR_HG1832_PATCH:g.210349009C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala13Val	rs775006103	missense variant	-	CHR_HG1832_PATCH:g.210349013C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Val	rs763566623	missense variant	-	CHR_HG1832_PATCH:g.210349024T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe17Leu	rs141741088	missense variant	-	CHR_HG1832_PATCH:g.210349026C>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe19Leu	rs761879800	missense variant	-	CHR_HG1832_PATCH:g.210349030T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr20Cys	rs1183312420	missense variant	-	CHR_HG1832_PATCH:g.210349034A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr23Cys	rs138327418	missense variant	-	CHR_HG1832_PATCH:g.210349043A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Phe	rs756004234	missense variant	-	CHR_HG1832_PATCH:g.210349052A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr26Cys	rs756004234	missense variant	-	CHR_HG1832_PATCH:g.210349052A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys27Arg	rs1454105739	missense variant	-	CHR_HG1832_PATCH:g.210349055A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser29Cys	rs752918841	missense variant	-	CHR_HG1832_PATCH:g.210349061C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu31Asp	rs186282077	missense variant	-	CHR_HG1832_PATCH:g.210362853A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu33Lys	rs751737702	missense variant	-	CHR_HG1832_PATCH:g.210362857G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu34Lys	rs1217467814	missense variant	-	CHR_HG1832_PATCH:g.210362860G>A	gnomAD
HHAT	Q5VTY9	p.Asp37Glu	rs1241555812	missense variant	-	CHR_HG1832_PATCH:g.210362871C>A	gnomAD
HHAT	Q5VTY9	p.Glu39Lys	rs1485201545	missense variant	-	CHR_HG1832_PATCH:g.210362875G>A	gnomAD
HHAT	Q5VTY9	p.Phe40Leu	rs144245212	missense variant	-	CHR_HG1832_PATCH:g.210362880T>A	ESP,TOPMed
HHAT	Q5VTY9	p.Leu42Pro	rs1426396610	missense variant	-	CHR_HG1832_PATCH:g.210362885T>C	gnomAD
HHAT	Q5VTY9	p.Thr46Ser	rs1251088486	missense variant	-	CHR_HG1832_PATCH:g.210362897C>G	TOPMed
HHAT	Q5VTY9	p.Thr46Ala	rs757329992	missense variant	-	CHR_HG1832_PATCH:g.210362896A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Cys	rs201701816	missense variant	-	CHR_HG1832_PATCH:g.210362903T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Tyr	rs201701816	missense variant	-	CHR_HG1832_PATCH:g.210362903T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe48Ser	rs201701816	missense variant	-	CHR_HG1832_PATCH:g.210362903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly49Arg	rs141591165	missense variant	-	CHR_HG1832_PATCH:g.210362905G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly50Arg	rs756643679	missense variant	-	CHR_HG1832_PATCH:g.210362908G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly50Ter	rs756643679	stop gained	-	CHR_HG1832_PATCH:g.210362908G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys53Glu	rs1438602469	missense variant	-	CHR_HG1832_PATCH:g.210362917A>G	gnomAD
HHAT	Q5VTY9	p.Asp54Val	rs746548984	missense variant	-	CHR_HG1832_PATCH:g.210387469A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Asp54Asn	rs777471907	missense variant	-	CHR_HG1832_PATCH:g.210387468G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala55Val	rs139380328	missense variant	-	CHR_HG1832_PATCH:g.210387472C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr56Asn	rs867091715	missense variant	-	CHR_HG1832_PATCH:g.210387475C>A	TOPMed
HHAT	Q5VTY9	p.Asp57Asn	rs1172717093	missense variant	-	CHR_HG1832_PATCH:g.210387477G>A	gnomAD
HHAT	Q5VTY9	p.Trp60Ter	rs762065926	stop gained	-	CHR_HG1832_PATCH:g.210387487G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp60Arg	rs1326549428	missense variant	-	CHR_HG1832_PATCH:g.210387486T>C	gnomAD
HHAT	Q5VTY9	p.Phe62Ile	rs558364465	missense variant	-	CHR_HG1832_PATCH:g.210387492T>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met64Val	rs773260603	missense variant	-	CHR_HG1832_PATCH:g.210387498A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu65Lys	rs760841342	missense variant	-	CHR_HG1832_PATCH:g.210387501G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp66Ter	rs1280659233	stop gained	-	CHR_HG1832_PATCH:g.210387505G>A	gnomAD
HHAT	Q5VTY9	p.Gln69Arg	rs754382840	missense variant	-	CHR_HG1832_PATCH:g.210387514A>G	ExAC
HHAT	Q5VTY9	p.Gln69Ter	rs1195612827	stop gained	-	CHR_HG1832_PATCH:g.210387513C>T	gnomAD
HHAT	Q5VTY9	p.Val72Gly	rs78052077	missense variant	-	CHR_HG1832_PATCH:g.210387523T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val72Leu	rs1188728045	missense variant	-	CHR_HG1832_PATCH:g.210387522G>T	TOPMed
HHAT	Q5VTY9	p.Val72Glu	rs78052077	missense variant	-	CHR_HG1832_PATCH:g.210387523T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp73Cys	rs758785739	missense variant	-	CHR_HG1832_PATCH:g.210387527G>T	ExAC
HHAT	Q5VTY9	p.Trp73Gly	rs753087963	missense variant	-	CHR_HG1832_PATCH:g.210387525T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu74Val	rs1473937850	missense variant	-	CHR_HG1832_PATCH:g.210387528C>G	gnomAD
HHAT	Q5VTY9	p.Leu75Phe	rs777596666	missense variant	-	CHR_HG1832_PATCH:g.210387531C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Met79Ile	rs1373594134	missense variant	-	CHR_HG1832_PATCH:g.210387545G>A	gnomAD
HHAT	Q5VTY9	p.Met79Thr	rs746572782	missense variant	-	CHR_HG1832_PATCH:g.210387544T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Val80Ile	rs1475019815	missense variant	-	CHR_HG1832_PATCH:g.210387546G>A	gnomAD
HHAT	Q5VTY9	p.Val81Glu	rs756801763	missense variant	-	CHR_HG1832_PATCH:g.210387550T>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val81Met	rs1165981815	missense variant	-	CHR_HG1832_PATCH:g.210387549G>A	gnomAD
HHAT	Q5VTY9	p.Thr86Pro	rs192652993	missense variant	-	CHR_HG1832_PATCH:g.210387564A>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg90Gly	rs769691809	missense variant	-	CHR_HG1832_PATCH:g.210387576A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.His92Arg	rs1169086872	missense variant	-	CHR_HG1832_PATCH:g.210400469A>G	gnomAD
HHAT	Q5VTY9	p.Pro94His	rs774003816	missense variant	-	CHR_HG1832_PATCH:g.210400475C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro94Arg	rs774003816	missense variant	-	CHR_HG1832_PATCH:g.210400475C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile96Ser	rs1269395595	missense variant	-	CHR_HG1832_PATCH:g.210400481T>G	gnomAD
HHAT	Q5VTY9	p.Tyr100Cys	rs1192812979	missense variant	-	CHR_HG1832_PATCH:g.210400493A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly101Arg	rs776861325	missense variant	-	CHR_HG1832_PATCH:g.210400495G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met102Thr	rs1335123292	missense variant	-	CHR_HG1832_PATCH:g.210400499T>C	TOPMed
HHAT	Q5VTY9	p.Met102Leu	rs769924809	missense variant	-	CHR_HG1832_PATCH:g.210400498A>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys105Tyr	rs1364527782	missense variant	-	CHR_HG1832_PATCH:g.210400508G>A	gnomAD
HHAT	Q5VTY9	p.Trp106Cys	rs1453153427	missense variant	-	CHR_HG1832_PATCH:g.210400512G>T	gnomAD
HHAT	Q5VTY9	p.Cys107Phe	rs1156840610	missense variant	-	CHR_HG1832_PATCH:g.210400514G>T	gnomAD
HHAT	Q5VTY9	p.Val108Leu	rs763536701	missense variant	-	CHR_HG1832_PATCH:g.210400516G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly110Arg	rs1307835291	missense variant	-	CHR_HG1832_PATCH:g.210400522G>A	gnomAD
HHAT	Q5VTY9	p.Thr111Asn	rs751842969	missense variant	-	CHR_HG1832_PATCH:g.210400526C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro112Leu	rs145455128	missense variant	-	CHR_HG1832_PATCH:g.210400529C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala115Asp	rs1046862949	missense variant	-	CHR_HG1832_PATCH:g.210400538C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met116Val	rs199828596	missense variant	-	CHR_HG1832_PATCH:g.210400540A>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His120Tyr	rs1231178551	missense variant	-	CHR_HG1832_PATCH:g.210400552C>T	gnomAD
HHAT	Q5VTY9	p.Thr122Ala	rs941269680	missense variant	-	CHR_HG1832_PATCH:g.210400558A>G	TOPMed
HHAT	Q5VTY9	p.Thr122Ile	rs1212970048	missense variant	-	CHR_HG1832_PATCH:g.210400559C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser124Cys	rs1271102309	missense variant	-	CHR_HG1832_PATCH:g.210400565C>G	gnomAD
HHAT	Q5VTY9	p.Ser124Phe	rs1271102309	missense variant	-	CHR_HG1832_PATCH:g.210400565C>T	gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	CHR_HG1832_PATCH:g.210400569C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe125Leu	rs1040066135	missense variant	-	CHR_HG1832_PATCH:g.210400569C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys126Gly	rs753831505	missense variant	-	CHR_HG1832_PATCH:g.210400570T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Val127Met	rs375839407	missense variant	-	CHR_HG1832_PATCH:g.210400573G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala128Thr	rs1475853230	missense variant	-	CHR_HG1832_PATCH:g.210400576G>A	gnomAD
HHAT	Q5VTY9	p.Gln129His	rs545915563	missense variant	-	CHR_HG1832_PATCH:g.210400581G>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln129Arg	rs141306397	missense variant	-	CHR_HG1832_PATCH:g.210400580A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe130Leu	rs746026575	missense variant	-	CHR_HG1832_PATCH:g.210400584C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe130Cys	rs781566798	missense variant	-	CHR_HG1832_PATCH:g.210400583T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Gln	rs370012146	missense variant	-	CHR_HG1832_PATCH:g.210400586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Pro	rs370012146	missense variant	-	CHR_HG1832_PATCH:g.210400586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg131Trp	rs138752308	missense variant	-	CHR_HG1832_PATCH:g.210400585C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln133Ter	rs1440623661	stop gained	-	CHR_HG1832_PATCH:g.210400591C>T	TOPMed
HHAT	Q5VTY9	p.Thr136Met	rs376054556	missense variant	-	CHR_HG1832_PATCH:g.210400601C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr136Ala	rs769025548	missense variant	-	CHR_HG1832_PATCH:g.210400600A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr136Lys	rs376054556	missense variant	-	CHR_HG1832_PATCH:g.210400601C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp137Cys	rs767857766	missense variant	-	CHR_HG1832_PATCH:g.210400605G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys139Arg	rs750090558	missense variant	-	CHR_HG1832_PATCH:g.210400609T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser140Cys	rs760308081	missense variant	-	CHR_HG1832_PATCH:g.210400613C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr146Ile	rs200772379	missense variant	-	CHR_HG1832_PATCH:g.210400631C>T	TOPMed
HHAT	Q5VTY9	p.Thr146Ala	rs765941795	missense variant	-	CHR_HG1832_PATCH:g.210400630A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly151Ser	rs374495612	missense variant	-	CHR_HG1832_PATCH:g.210400645G>A	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu153Lys	rs753322887	missense variant	-	CHR_HG1832_PATCH:g.210400651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Val155Ile	rs754462235	missense variant	-	CHR_HG1832_PATCH:g.210400657G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg157Thr	rs1055755703	missense variant	-	CHR_HG1832_PATCH:g.210404465G>C	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys161Gln	rs764017113	missense variant	-	CHR_HG1832_PATCH:g.210404476A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn164Asp	rs748514239	missense variant	-	CHR_HG1832_PATCH:g.210404485A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Glu165Lys	rs374048677	missense variant	-	CHR_HG1832_PATCH:g.210404488G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr172Met	rs139483274	missense variant	-	CHR_HG1832_PATCH:g.210404510C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr174Ile	rs747405504	missense variant	-	CHR_HG1832_PATCH:g.210404516C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr174Ser	rs1365991028	missense variant	-	CHR_HG1832_PATCH:g.210404515A>T	gnomAD
HHAT	Q5VTY9	p.Val175Ile	rs776159715	missense variant	-	CHR_HG1832_PATCH:g.210404518G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg176Cys	rs567439002	missense variant	-	CHR_HG1832_PATCH:g.210404521C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176His	rs145435771	missense variant	-	CHR_HG1832_PATCH:g.210404522G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg176Leu	rs145435771	missense variant	-	CHR_HG1832_PATCH:g.210404522G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys177Tyr	rs775030191	missense variant	-	CHR_HG1832_PATCH:g.210404525G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu178Val	rs1374615080	missense variant	-	CHR_HG1832_PATCH:g.210404527C>G	TOPMed
HHAT	Q5VTY9	p.Tyr179Cys	rs535833711	missense variant	-	CHR_HG1832_PATCH:g.210404531A>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr181Asn	rs765901690	missense variant	-	CHR_HG1832_PATCH:g.210404537C>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr181Ile	rs765901690	missense variant	-	CHR_HG1832_PATCH:g.210404537C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	CHR_HG1832_PATCH:g.210404540G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser182Asn	rs2294851	missense variant	-	NC_000001.11:g.210404540G>A	UniProt,dbSNP
HHAT	Q5VTY9	p.Ser182Asn	VAR_024743	missense variant	-	NC_000001.11:g.210404540G>A	UniProt
HHAT	Q5VTY9	p.Ser184Ile	rs1206506032	missense variant	-	CHR_HG1832_PATCH:g.210404546G>T	gnomAD
HHAT	Q5VTY9	p.Leu185Val	rs755225544	missense variant	-	CHR_HG1832_PATCH:g.210404548C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys188Arg	rs34228541	missense variant	-	CHR_HG1832_PATCH:g.210404557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu192Pro	rs955610159	missense variant	-	CHR_HG1832_PATCH:g.210404570T>C	TOPMed
HHAT	Q5VTY9	p.Pro193Arg	rs758432747	missense variant	-	CHR_HG1832_PATCH:g.210404573C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro193Leu	rs758432747	missense variant	-	CHR_HG1832_PATCH:g.210404573C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser196Leu	rs376601925	missense variant	-	CHR_HG1832_PATCH:g.210404582C>T	ESP,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr197Pro	rs1327760185	missense variant	-	CHR_HG1832_PATCH:g.210404584A>C	gnomAD
HHAT	Q5VTY9	p.Tyr199Cys	rs747455697	missense variant	-	CHR_HG1832_PATCH:g.210404591A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser200Phe	rs781614202	missense variant	-	CHR_HG1832_PATCH:g.210404594C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser200Pro	rs771340497	missense variant	-	CHR_HG1832_PATCH:g.210404593T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro202Ser	rs1219742764	missense variant	-	CHR_HG1832_PATCH:g.210404599C>T	gnomAD
HHAT	Q5VTY9	p.Ala206Thr	rs1234274214	missense variant	-	CHR_HG1832_PATCH:g.210404611G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr207Cys	rs1176162825	missense variant	-	CHR_HG1832_PATCH:g.210404615A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Tyr	rs769462211	missense variant	-	CHR_HG1832_PATCH:g.210404621T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe209Leu	rs1393561796	missense variant	-	CHR_HG1832_PATCH:g.210404622T>G	gnomAD
HHAT	Q5VTY9	p.Tyr210Ser	rs774960950	missense variant	-	CHR_HG1832_PATCH:g.210404624A>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr210His	rs1459691356	missense variant	-	CHR_HG1832_PATCH:g.210404623T>C	gnomAD
HHAT	Q5VTY9	p.Tyr210Cys	rs774960950	missense variant	-	CHR_HG1832_PATCH:g.210404624A>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr211His	rs1165960690	missense variant	-	CHR_HG1832_PATCH:g.210404626T>C	gnomAD
HHAT	Q5VTY9	p.Pro212Leu	rs768217049	missense variant	-	CHR_HG1832_PATCH:g.210404630C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.His215Arg	rs1443167558	missense variant	-	CHR_HG1832_PATCH:g.210404639A>G	gnomAD
HHAT	Q5VTY9	p.Asn216Ser	rs1048728289	missense variant	-	CHR_HG1832_PATCH:g.210404642A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe222Leu	rs147320835	missense variant	-	CHR_HG1832_PATCH:g.210404659T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser223Leu	rs767486877	missense variant	-	CHR_HG1832_PATCH:g.210404663C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu224Asp	rs965938188	missense variant	-	CHR_HG1832_PATCH:g.210404667G>C	gnomAD
HHAT	Q5VTY9	p.Phe225Val	rs750203730	missense variant	-	CHR_HG1832_PATCH:g.210404668T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Lys227Arg	rs1328074882	missense variant	-	CHR_HG1832_PATCH:g.210404675A>G	TOPMed
HHAT	Q5VTY9	p.Gln228Arg	rs1203362333	missense variant	-	CHR_HG1832_PATCH:g.210404678A>G	gnomAD
HHAT	Q5VTY9	p.Met229Leu	rs1394872962	missense variant	-	CHR_HG1832_PATCH:g.210418154A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Ter	rs749015922	stop gained	-	CHR_HG1832_PATCH:g.210418160C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Lys	rs749015922	missense variant	-	CHR_HG1832_PATCH:g.210418160C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Glu	rs749015922	missense variant	-	CHR_HG1832_PATCH:g.210418160C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln231Pro	rs778617403	missense variant	-	CHR_HG1832_PATCH:g.210418161A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.His234Tyr	rs1231520076	missense variant	-	CHR_HG1832_PATCH:g.210418169C>T	TOPMed
HHAT	Q5VTY9	p.Asp235Asn	rs771415014	missense variant	-	CHR_HG1832_PATCH:g.210418172G>A	ExAC
HHAT	Q5VTY9	p.Ser236Phe	rs773212620	missense variant	-	CHR_HG1832_PATCH:g.210418176C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu237Met	rs746907598	missense variant	-	CHR_HG1832_PATCH:g.210418178C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu241Gln	rs376960795	missense variant	-	CHR_HG1832_PATCH:g.210418191T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Arg	rs200438732	missense variant	-	CHR_HG1832_PATCH:g.210418193T>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Gly	rs200438732	missense variant	-	CHR_HG1832_PATCH:g.210418193T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys242Tyr	rs374579980	missense variant	-	CHR_HG1832_PATCH:g.210418194G>A	ESP,ExAC,gnomAD
HHAT	Q5VTY9	p.Val243Ala	rs1284891579	missense variant	-	CHR_HG1832_PATCH:g.210418197T>C	gnomAD
HHAT	Q5VTY9	p.Ala245Asp	rs764319347	missense variant	-	CHR_HG1832_PATCH:g.210418203C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Gly	rs764319347	missense variant	-	CHR_HG1832_PATCH:g.210418203C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala245Val	rs764319347	missense variant	-	CHR_HG1832_PATCH:g.210418203C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly247Arg	rs767440738	missense variant	-	CHR_HG1832_PATCH:g.210418208G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly249Ser	rs368531187	missense variant	-	CHR_HG1832_PATCH:g.210418214G>A	ESP,TOPMed
HHAT	Q5VTY9	p.Arg250Cys	rs766891856	missense variant	-	CHR_HG1832_PATCH:g.210418217C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250Pro	rs148639278	missense variant	-	CHR_HG1832_PATCH:g.210418218G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg250His	rs148639278	missense variant	-	CHR_HG1832_PATCH:g.210418218G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp254Ser	rs778740258	missense variant	-	CHR_HG1832_PATCH:g.210418230G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp254Ter	rs987044311	stop gained	-	CHR_HG1832_PATCH:g.210418231G>A	TOPMed
HHAT	Q5VTY9	p.Trp255Leu	rs1021644358	missense variant	-	CHR_HG1832_PATCH:g.210418233G>T	gnomAD
HHAT	Q5VTY9	p.Trp255Ter	rs1021644358	stop gained	-	CHR_HG1832_PATCH:g.210418233G>A	gnomAD
HHAT	Q5VTY9	p.Trp256Ter	rs372024732	stop gained	-	CHR_HG1832_PATCH:g.210418237G>A	ESP,gnomAD
HHAT	Q5VTY9	p.Ala258Thr	rs747743664	missense variant	-	CHR_HG1832_PATCH:g.210418241G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala258Val	rs757984265	missense variant	-	CHR_HG1832_PATCH:g.210418242C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu259Lys	rs770748303	missense variant	-	CHR_HG1832_PATCH:g.210418244G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His263Gln	rs576213719	missense variant	-	CHR_HG1832_PATCH:g.210418258C>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Leu264Met	rs745691529	missense variant	-	CHR_HG1832_PATCH:g.210418259C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu264Pro	rs769514962	missense variant	-	CHR_HG1832_PATCH:g.210418260T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met265Val	rs375086953	missense variant	-	CHR_HG1832_PATCH:g.210418262A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr266Asp	rs543648313	missense variant	-	CHR_HG1832_PATCH:g.210418265T>G	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr266Asn	rs543648313	missense variant	-	CHR_HG1832_PATCH:g.210418265T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Met267Ile	rs767706148	missense variant	-	CHR_HG1832_PATCH:g.210418270G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile270Phe	rs1274887070	missense variant	-	CHR_HG1832_PATCH:g.210418277A>T	gnomAD
HHAT	Q5VTY9	p.Tyr271Cys	rs1468755372	missense variant	-	CHR_HG1832_PATCH:g.210418281A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser273Asn	rs1408361995	missense variant	-	CHR_HG1832_PATCH:g.210418287G>A	gnomAD
HHAT	Q5VTY9	p.Leu276Ile	rs761293868	missense variant	-	CHR_HG1832_PATCH:g.210418295C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu276Val	rs761293868	missense variant	-	CHR_HG1832_PATCH:g.210418295C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu278Asp	rs561841936	missense variant	-	CHR_HG1832_PATCH:g.210418303G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Cys282Ser	rs754359000	missense variant	-	CHR_HG1832_PATCH:g.210418314G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Cys282Phe	rs754359000	missense variant	-	CHR_HG1832_PATCH:g.210418314G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly287Val	rs1173716957	missense variant	-	CHR_HG1832_PATCH:g.210464508G>T	TOPMed
HHAT	Q5VTY9	p.Gly287Ter	rs1310390993	stop gained	-	CHR_HG1832_PATCH:g.210464507G>T	gnomAD
HHAT	Q5VTY9	p.Leu288Val	rs1435982918	missense variant	-	CHR_HG1832_PATCH:g.210464510C>G	TOPMed
HHAT	Q5VTY9	p.Ala289Val	rs192286679	missense variant	-	CHR_HG1832_PATCH:g.210464514C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln292Arg	rs1475643148	missense variant	-	CHR_HG1832_PATCH:g.210464523A>G	TOPMed
HHAT	Q5VTY9	p.Val293Glu	rs1243613343	missense variant	-	CHR_HG1832_PATCH:g.210464526T>A	TOPMed
HHAT	Q5VTY9	p.Phe295Ser	rs1018558976	missense variant	-	CHR_HG1832_PATCH:g.210464532T>C	TOPMed
HHAT	Q5VTY9	p.Phe296Leu	rs1341668706	missense variant	-	CHR_HG1832_PATCH:g.210464536C>G	gnomAD
HHAT	Q5VTY9	p.Tyr297Cys	rs1487919886	missense variant	-	CHR_HG1832_PATCH:g.210464538A>G	TOPMed
HHAT	Q5VTY9	p.Val298Met	rs967141075	missense variant	-	CHR_HG1832_PATCH:g.210464540G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Lys299Thr	rs1181785857	missense variant	-	CHR_HG1832_PATCH:g.210464544A>C	gnomAD
HHAT	Q5VTY9	p.Lys299Gln	rs144173927	missense variant	-	CHR_HG1832_PATCH:g.210464543A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr300His	rs756776629	missense variant	-	CHR_HG1832_PATCH:g.210464546T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr300Cys	rs541167454	missense variant	-	CHR_HG1832_PATCH:g.210464547A>G	TOPMed
HHAT	Q5VTY9	p.Val302Ala	rs780669166	missense variant	-	CHR_HG1832_PATCH:g.210464553T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Leu303Phe	rs1389201461	missense variant	-	CHR_HG1832_PATCH:g.210464555C>T	gnomAD
HHAT	Q5VTY9	p.Val306Leu	rs779948186	missense variant	-	CHR_HG1832_PATCH:g.210464564G>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val306Met	rs779948186	missense variant	-	CHR_HG1832_PATCH:g.210464564G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro307Leu	rs749060244	missense variant	-	CHR_HG1832_PATCH:g.210464568C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu310Pro	rs1296554350	missense variant	-	CHR_HG1832_PATCH:g.210464577T>C	gnomAD
HHAT	Q5VTY9	p.Met311Thr	rs200901586	missense variant	-	CHR_HG1832_PATCH:g.210464580T>C	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312His	rs34362403	missense variant	-	CHR_HG1832_PATCH:g.210464583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Ser	rs777865030	missense variant	-	CHR_HG1832_PATCH:g.210464582C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg312Cys	rs777865030	missense variant	-	CHR_HG1832_PATCH:g.210464582C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp314Asn	rs1463422784	missense variant	-	CHR_HG1832_PATCH:g.210464588G>A	gnomAD
HHAT	Q5VTY9	p.Asp314Glu	rs1209434701	missense variant	-	CHR_HG1832_PATCH:g.210464590T>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr317Ile	rs771201072	missense variant	-	CHR_HG1832_PATCH:g.210464598C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr317Ala	rs1254789301	missense variant	-	CHR_HG1832_PATCH:g.210464597A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro318Leu	rs1026211141	missense variant	-	CHR_HG1832_PATCH:g.210464601C>T	TOPMed
HHAT	Q5VTY9	p.Pro319Ser	rs770442814	missense variant	-	CHR_HG1832_PATCH:g.210464603C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala320Thr	rs143700139	missense variant	-	CHR_HG1832_PATCH:g.210464606G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Ser	rs143700139	missense variant	-	CHR_HG1832_PATCH:g.210464606G>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala320Pro	rs143700139	missense variant	-	CHR_HG1832_PATCH:g.210464606G>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu321Phe	rs534915659	missense variant	-	CHR_HG1832_PATCH:g.210464609C>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Pro322Leu	rs761454249	missense variant	-	CHR_HG1832_PATCH:g.210464613C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro322Ser	rs773936014	missense variant	-	CHR_HG1832_PATCH:g.210464612C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Cys	rs146916002	missense variant	-	CHR_HG1832_PATCH:g.210464615C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323Ser	rs146916002	missense variant	-	CHR_HG1832_PATCH:g.210464615C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg323His	rs749916241	missense variant	-	CHR_HG1832_PATCH:g.210464616G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val325Met	rs766259679	missense variant	-	CHR_HG1832_PATCH:g.210464621G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser326Arg	rs1305915605	missense variant	-	CHR_HG1832_PATCH:g.210464624A>C	gnomAD
HHAT	Q5VTY9	p.Ser326Asn	rs1310979158	missense variant	-	CHR_HG1832_PATCH:g.210464625G>A	gnomAD
HHAT	Q5VTY9	p.Thr327Ala	rs753743106	missense variant	-	CHR_HG1832_PATCH:g.210464627A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met328Ile	rs369156629	missense variant	-	CHR_HG1832_PATCH:g.210464632G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Thr	rs778762203	missense variant	-	CHR_HG1832_PATCH:g.210464637G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser330Gly	rs1319305222	missense variant	-	CHR_HG1832_PATCH:g.210464636A>G	gnomAD
HHAT	Q5VTY9	p.Ser330Asn	rs778762203	missense variant	-	CHR_HG1832_PATCH:g.210464637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr332Ile	rs1267974210	missense variant	-	CHR_HG1832_PATCH:g.210464643C>T	gnomAD
HHAT	Q5VTY9	p.Gly333Arg	rs61744143	missense variant	-	CHR_HG1832_PATCH:g.210464645G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Lys	rs1418277029	missense variant	-	CHR_HG1832_PATCH:g.210464649T>A	TOPMed
HHAT	Q5VTY9	p.Met334Leu	rs1477472411	missense variant	-	CHR_HG1832_PATCH:g.210464648A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Met334Val	rs1477472411	missense variant	-	CHR_HG1832_PATCH:g.210464648A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg336Ser	rs774794788	missense variant	-	CHR_HG1832_PATCH:g.210513153G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr337His	rs1480552168	missense variant	-	CHR_HG1832_PATCH:g.210513154T>C	TOPMed
HHAT	Q5VTY9	p.Asp339Glu	rs1486645557	missense variant	-	CHR_HG1832_PATCH:g.210513162T>A	gnomAD
HHAT	Q5VTY9	p.Val340Ala	rs1236766012	missense variant	-	CHR_HG1832_PATCH:g.210513164T>C	gnomAD
HHAT	Q5VTY9	p.Val340Ile	rs748544351	missense variant	-	CHR_HG1832_PATCH:g.210513163G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.His343Tyr	rs1471698324	missense variant	-	CHR_HG1832_PATCH:g.210513172C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	CHR_HG1832_PATCH:g.210587898G>C	TOPMed
HHAT	Q5VTY9	p.Arg348Ser	rs1229863213	missense variant	-	CHR_HG1832_PATCH:g.210587898G>T	TOPMed
HHAT	Q5VTY9	p.Arg348Thr	rs1430616111	missense variant	-	CHR_HG1832_PATCH:g.210513188G>C	gnomAD
HHAT	Q5VTY9	p.Val350Glu	rs529893253	missense variant	-	CHR_HG1832_PATCH:g.210587903T>A	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr351Cys	rs1413244904	missense variant	-	CHR_HG1832_PATCH:g.210587906A>G	gnomAD
HHAT	Q5VTY9	p.Ile352Val	rs778078227	missense variant	-	CHR_HG1832_PATCH:g.210587908A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile352Leu	rs778078227	missense variant	-	CHR_HG1832_PATCH:g.210587908A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro353Ser	rs746687297	missense variant	-	CHR_HG1832_PATCH:g.210587911C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly355Ser	rs768820197	missense variant	-	CHR_HG1832_PATCH:g.210587917G>A	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly356Arg	rs776106560	missense variant	-	CHR_HG1832_PATCH:g.210587920G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser357Cys	rs1336939401	missense variant	-	CHR_HG1832_PATCH:g.210587924C>G	TOPMed
HHAT	Q5VTY9	p.Gln358Arg	rs1331461975	missense variant	-	CHR_HG1832_PATCH:g.210587927A>G	TOPMed
HHAT	Q5VTY9	p.His359Tyr	rs1390109673	missense variant	-	CHR_HG1832_PATCH:g.210587929C>T	TOPMed
HHAT	Q5VTY9	p.Leu361Met	rs775624263	missense variant	-	CHR_HG1832_PATCH:g.210587935C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu362Arg	rs1189204348	missense variant	-	CHR_HG1832_PATCH:g.210587939T>G	gnomAD
HHAT	Q5VTY9	p.Leu365Arg	rs1472183131	missense variant	-	CHR_HG1832_PATCH:g.210587948T>G	TOPMed
HHAT	Q5VTY9	p.Leu365Val	rs1206534082	missense variant	-	CHR_HG1832_PATCH:g.210587947C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	CHR_HG1832_PATCH:g.210587952T>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe366Leu	rs150462339	missense variant	-	CHR_HG1832_PATCH:g.210587952T>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr368Met	rs761470224	missense variant	-	CHR_HG1832_PATCH:g.210587957C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala369Thr	rs1250855428	missense variant	-	CHR_HG1832_PATCH:g.210587959G>A	TOPMed
HHAT	Q5VTY9	p.Ala369Val	rs753942041	missense variant	-	CHR_HG1832_PATCH:g.210587960C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Met370Val	rs753271439	missense variant	-	CHR_HG1832_PATCH:g.210587962A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Ile	rs761768543	missense variant	-	CHR_HG1832_PATCH:g.210587964G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Met370Leu	rs753271439	missense variant	-	CHR_HG1832_PATCH:g.210587962A>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ala	rs778202949	missense variant	-	CHR_HG1832_PATCH:g.210587965A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr371Ile	rs149597734	missense variant	-	CHR_HG1832_PATCH:g.210587966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Ser	rs771134636	missense variant	-	CHR_HG1832_PATCH:g.210587969T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Cys	rs771134636	missense variant	-	CHR_HG1832_PATCH:g.210587969T>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe372Tyr	rs771134636	missense variant	-	CHR_HG1832_PATCH:g.210587969T>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala373Thr	rs780907560	missense variant	-	CHR_HG1832_PATCH:g.210587971G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Tyr377Cys	rs745491597	missense variant	-	CHR_HG1832_PATCH:g.210587984A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Cys	rs769492158	missense variant	-	CHR_HG1832_PATCH:g.210587988G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp378Ter	rs1350371972	stop gained	-	CHR_HG1832_PATCH:g.210587987G>A	TOPMed
HHAT	Q5VTY9	p.Trp378Gly	rs75379612	missense variant	-	CHR_HG1832_PATCH:g.210587986T>G	gnomAD
HHAT	Q5VTY9	p.His379Tyr	rs191150462	missense variant	-	CHR_HG1832_PATCH:g.210587989C>T	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.His379Arg	rs1407130052	missense variant	-	CHR_HG1832_PATCH:g.210587990A>G	TOPMed
HHAT	Q5VTY9	p.Gly380Ser	rs1319221366	missense variant	-	CHR_HG1832_PATCH:g.210587992G>A	gnomAD
HHAT	Q5VTY9	p.Gly381Ser	rs755024350	missense variant	-	CHR_HG1832_PATCH:g.210587995G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr382His	rs1210658100	missense variant	-	CHR_HG1832_PATCH:g.210587998T>C	gnomAD
HHAT	Q5VTY9	p.Asp383Gly	rs148696006	missense variant	-	CHR_HG1832_PATCH:g.210588002A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Asn	rs537432647	missense variant	-	CHR_HG1832_PATCH:g.210588001G>A	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp383Glu	rs1471597942	missense variant	-	CHR_HG1832_PATCH:g.210588003C>G	TOPMed
HHAT	Q5VTY9	p.Asp383Ala	rs148696006	missense variant	-	CHR_HG1832_PATCH:g.210588002A>C	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu385Pro	rs1472535776	missense variant	-	CHR_HG1832_PATCH:g.210588008T>C	gnomAD
HHAT	Q5VTY9	p.Leu385Phe	rs1253211468	missense variant	-	CHR_HG1832_PATCH:g.210588007C>T	gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	CHR_HG1832_PATCH:g.210588012G>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp386Cys	rs776973400	missense variant	-	CHR_HG1832_PATCH:g.210588012G>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Cys387Tyr	rs958275249	missense variant	-	CHR_HG1832_PATCH:g.210588014G>A	TOPMed
HHAT	Q5VTY9	p.Cys387Gly	rs1286369938	missense variant	-	CHR_HG1832_PATCH:g.210588013T>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp388Ter	rs759676083	stop gained	-	CHR_HG1832_PATCH:g.210588018G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala389Thr	rs765348085	missense variant	-	CHR_HG1832_PATCH:g.210588019G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala390Val	rs139134333	missense variant	-	CHR_HG1832_PATCH:g.210588023C>T	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala390Glu	rs139134333	missense variant	-	CHR_HG1832_PATCH:g.210588023C>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu391Pro	rs1447758274	missense variant	-	CHR_HG1832_PATCH:g.210588026T>C	TOPMed
HHAT	Q5VTY9	p.Leu391Phe	rs1308080230	missense variant	-	CHR_HG1832_PATCH:g.210588025C>T	gnomAD
HHAT	Q5VTY9	p.Asn392Ser	rs145501609	missense variant	-	CHR_HG1832_PATCH:g.210588029A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn392Lys	rs781404828	missense variant	-	CHR_HG1832_PATCH:g.210588030C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp393Ter	rs745572125	stop gained	-	CHR_HG1832_PATCH:g.210588033G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly395Glu	rs1041130066	missense variant	-	CHR_HG1832_PATCH:g.210588038G>A	TOPMed
HHAT	Q5VTY9	p.Val396Ile	rs1329136878	missense variant	-	CHR_HG1832_PATCH:g.210588040G>A	TOPMed
HHAT	Q5VTY9	p.Thr397Ala	rs201464164	missense variant	-	CHR_HG1832_PATCH:g.210588043A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Glu399Gly	rs1354462659	missense variant	-	CHR_HG1832_PATCH:g.210588050A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ile	rs528513055	missense variant	-	CHR_HG1832_PATCH:g.210588053A>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn400Ser	rs528513055	missense variant	-	CHR_HG1832_PATCH:g.210588053A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly401Arg	rs1435366590	missense variant	-	CHR_HG1832_PATCH:g.210588055G>A	TOPMed
HHAT	Q5VTY9	p.Val402Ala	rs147691760	missense variant	-	CHR_HG1832_PATCH:g.210588059T>C	ESP,gnomAD
HHAT	Q5VTY9	p.Arg403Gln	rs368498838	missense variant	-	CHR_HG1832_PATCH:g.210588062G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg403Trp	rs144274904	missense variant	-	CHR_HG1832_PATCH:g.210588061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Val406Ala	rs1387194915	missense variant	-	CHR_HG1832_PATCH:g.210588071T>C	TOPMed
HHAT	Q5VTY9	p.Glu407Lys	rs772854695	missense variant	-	CHR_HG1832_PATCH:g.210588073G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr408Ile	rs760410532	missense variant	-	CHR_HG1832_PATCH:g.210588077C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Pro409Ala	rs765471482	missense variant	-	CHR_HG1832_PATCH:g.210588079C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro409Thr	rs765471482	missense variant	-	CHR_HG1832_PATCH:g.210588079C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp413Ala	rs1190379715	missense variant	-	CHR_HG1832_PATCH:g.210588092A>C	TOPMed
HHAT	Q5VTY9	p.Ser414Arg	rs572645178	missense variant	-	CHR_HG1832_PATCH:g.210588094A>C	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Ala416Thr	rs1274596916	missense variant	-	CHR_HG1832_PATCH:g.210623526G>A	TOPMed
HHAT	Q5VTY9	p.Arg417Gln	rs372287242	missense variant	-	CHR_HG1832_PATCH:g.210623530G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg417Ter	rs767942183	stop gained	-	CHR_HG1832_PATCH:g.210623529C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Tyr418Ter	rs761135455	stop gained	-	CHR_HG1832_PATCH:g.210623534C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser420Thr	rs1400124587	missense variant	-	CHR_HG1832_PATCH:g.210623538T>A	TOPMed
HHAT	Q5VTY9	p.Pro421Leu	rs766841031	missense variant	-	CHR_HG1832_PATCH:g.210623542C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln422Arg	rs147869616	missense variant	-	CHR_HG1832_PATCH:g.210623545A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424His	rs752178549	missense variant	-	CHR_HG1832_PATCH:g.210623551G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg424Cys	rs778537110	missense variant	-	CHR_HG1832_PATCH:g.210623550C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Arg425His	rs777581246	missense variant	-	CHR_HG1832_PATCH:g.210623554G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg425Cys	rs367896407	missense variant	-	CHR_HG1832_PATCH:g.210623553C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Gln	rs371790765	missense variant	-	CHR_HG1832_PATCH:g.210623557G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Arg426Leu	rs371790765	missense variant	-	CHR_HG1832_PATCH:g.210623557G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	CHR_HG1832_PATCH:g.210623561C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs770778775	missense variant	-	CHR_HG1832_PATCH:g.210623559T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Phe427Leu	rs780932919	missense variant	-	CHR_HG1832_PATCH:g.210623561C>G	ExAC,gnomAD
HHAT	Q5VTY9	p.His428Tyr	rs1267872556	missense variant	-	CHR_HG1832_PATCH:g.210623562C>T	gnomAD
HHAT	Q5VTY9	p.Ala429Thr	rs376491664	missense variant	-	CHR_HG1832_PATCH:g.210623565G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala430Val	rs1246866620	missense variant	-	CHR_HG1832_PATCH:g.210623569C>T	gnomAD
HHAT	Q5VTY9	p.Ala430Thr	rs1020683342	missense variant	-	CHR_HG1832_PATCH:g.210623568G>A	TOPMed
HHAT	Q5VTY9	p.Leu431Arg	rs1327162202	missense variant	-	CHR_HG1832_PATCH:g.210623572T>G	gnomAD
HHAT	Q5VTY9	p.Leu431Phe	rs772132903	missense variant	-	CHR_HG1832_PATCH:g.210623571C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu431Val	rs772132903	missense variant	-	CHR_HG1832_PATCH:g.210623571C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser433Cys	rs1202168184	missense variant	-	CHR_HG1832_PATCH:g.210623578C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Thr436Ile	rs952228974	missense variant	-	CHR_HG1832_PATCH:g.210623587C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Leu	rs113371678	missense variant	-	CHR_HG1832_PATCH:g.210623590C>T	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ser437Trp	rs113371678	missense variant	-	CHR_HG1832_PATCH:g.210623590C>G	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile440Ser	rs202236243	missense variant	-	CHR_HG1832_PATCH:g.210623599T>G	1000Genomes,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn443Ser	rs759902169	missense variant	-	CHR_HG1832_PATCH:g.210623608A>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Leu444Met	rs764798520	missense variant	-	CHR_HG1832_PATCH:g.210623610C>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Phe446Leu	rs761804644	missense variant	-	CHR_HG1832_PATCH:g.210623616T>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Leu447Pro	rs751537022	missense variant	-	CHR_HG1832_PATCH:g.210623620T>C	ExAC,TOPMed
HHAT	Q5VTY9	p.Gly448Glu	rs757163023	missense variant	-	CHR_HG1832_PATCH:g.210623623G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly448Arg	rs1288194139	missense variant	-	CHR_HG1832_PATCH:g.210623622G>A	gnomAD
HHAT	Q5VTY9	p.Gly449Asp	rs112551598	missense variant	-	CHR_HG1832_PATCH:g.210623626G>A	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450His	rs1236467255	missense variant	-	CHR_HG1832_PATCH:g.210623628A>C	TOPMed
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	CHR_HG1832_PATCH:g.210623629A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asn450Ser	rs147954610	missense variant	-	NC_000001.11:g.210623629A>G	UniProt,dbSNP
HHAT	Q5VTY9	p.Asn450Ser	VAR_024745	missense variant	-	NC_000001.11:g.210623629A>G	UniProt
HHAT	Q5VTY9	p.Gly453Arg	rs779017166	missense variant	-	CHR_HG1832_PATCH:g.210623637G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly453Val	rs544741245	missense variant	-	CHR_HG1832_PATCH:g.210623638G>T	1000Genomes,ExAC,gnomAD
HHAT	Q5VTY9	p.Thr455Ser	rs1231046147	missense variant	-	CHR_HG1832_PATCH:g.210623644C>G	gnomAD
HHAT	Q5VTY9	p.Thr455Ala	rs1181369040	missense variant	-	CHR_HG1832_PATCH:g.210623643A>G	gnomAD
HHAT	Q5VTY9	p.Tyr456His	rs772114026	missense variant	-	CHR_HG1832_PATCH:g.210623646T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp457Ter	rs773398217	stop gained	-	CHR_HG1832_PATCH:g.210623651G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Asn458Thr	rs1414852061	missense variant	-	CHR_HG1832_PATCH:g.210623653A>C	gnomAD
HHAT	Q5VTY9	p.Arg459Gly	rs1404967475	missense variant	-	CHR_HG1832_PATCH:g.210623655A>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile460Met	rs1161817788	missense variant	-	CHR_HG1832_PATCH:g.210623660C>G	gnomAD
HHAT	Q5VTY9	p.Phe461Val	rs747570787	missense variant	-	CHR_HG1832_PATCH:g.210623661T>G	ExAC,gnomAD
HHAT	Q5VTY9	p.Ile462Val	rs372765603	missense variant	-	CHR_HG1832_PATCH:g.210623664A>G	ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gln463His	rs759828685	missense variant	-	CHR_HG1832_PATCH:g.210623669A>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Gly464Ser	rs765617712	missense variant	-	CHR_HG1832_PATCH:g.210623670G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Gly464Ala	rs1473013625	missense variant	-	CHR_HG1832_PATCH:g.210677645G>C	gnomAD
HHAT	Q5VTY9	p.Gly464Arg	rs765617712	missense variant	-	CHR_HG1832_PATCH:g.210623670G>C	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ser	rs1162782214	missense variant	-	CHR_HG1832_PATCH:g.210677650C>T	TOPMed,gnomAD
HHAT	Q5VTY9	p.Pro466Ala	rs1162782214	missense variant	-	CHR_HG1832_PATCH:g.210677650C>G	TOPMed,gnomAD
HHAT	Q5VTY9	p.Trp467Ter	rs766141146	stop gained	-	CHR_HG1832_PATCH:g.210677655G>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ser471Pro	rs1341787711	missense variant	-	CHR_HG1832_PATCH:g.210677665T>C	TOPMed
HHAT	Q5VTY9	p.Tyr479Cys	rs1389282522	missense variant	-	CHR_HG1832_PATCH:g.210677690A>G	gnomAD
HHAT	Q5VTY9	p.Ser480Phe	rs778151421	missense variant	-	CHR_HG1832_PATCH:g.210677693C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Val482Met	rs200853402	missense variant	-	CHR_HG1832_PATCH:g.210677698G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ile484Val	rs1489287557	missense variant	-	CHR_HG1832_PATCH:g.210677704A>G	gnomAD
HHAT	Q5VTY9	p.Ile484Thr	rs781297562	missense variant	-	CHR_HG1832_PATCH:g.210677705T>C	ExAC,gnomAD
HHAT	Q5VTY9	p.Trp486Leu	rs145943928	missense variant	-	CHR_HG1832_PATCH:g.210677711G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala487Thr	rs977412599	missense variant	-	CHR_HG1832_PATCH:g.210677713G>A	TOPMed
HHAT	Q5VTY9	p.Thr489Ile	rs770356363	missense variant	-	CHR_HG1832_PATCH:g.210677720C>T	ExAC,gnomAD
HHAT	Q5VTY9	p.Thr489Asn	rs770356363	missense variant	-	CHR_HG1832_PATCH:g.210677720C>A	ExAC,gnomAD
HHAT	Q5VTY9	p.Ala491Thr	rs749666736	missense variant	-	CHR_HG1832_PATCH:g.210677725G>A	ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Ala491Val	rs1194243455	missense variant	-	CHR_HG1832_PATCH:g.210677726C>T	gnomAD
HHAT	Q5VTY9	p.Thr492Met	rs148466987	missense variant	-	CHR_HG1832_PATCH:g.210677729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HHAT	Q5VTY9	p.Asp493Glu	rs1258511865	missense variant	-	CHR_HG1832_PATCH:g.210677733C>G	TOPMed
HHAT	Q5VTY9	p.Asp493Asn	rs200680141	missense variant	-	CHR_HG1832_PATCH:g.210677731G>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Phe2Ile	rs1370369303	missense variant	-	NC_000001.11:g.207051027A>T	TOPMed
YOD1	Q5VVQ6	p.Phe2Cys	rs1003314898	missense variant	-	NC_000001.11:g.207051026A>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Pro4Ser	rs1290768813	missense variant	-	NC_000001.11:g.207051021G>A	TOPMed
YOD1	Q5VVQ6	p.Pro4Leu	rs534842552	missense variant	-	NC_000001.11:g.207051020G>A	1000Genomes,ExAC,gnomAD
YOD1	Q5VVQ6	p.Ala5Pro	rs906407342	missense variant	-	NC_000001.11:g.207051018C>G	gnomAD
YOD1	Q5VVQ6	p.Lys6Arg	rs777433140	missense variant	-	NC_000001.11:g.207051014T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Gly7Arg	rs1351714496	missense variant	-	NC_000001.11:g.207051012C>G	TOPMed
YOD1	Q5VVQ6	p.Gly11Glu	rs1203754356	missense variant	-	NC_000001.11:g.207050999C>T	gnomAD
YOD1	Q5VVQ6	p.Val12Phe	rs1342236581	missense variant	-	NC_000001.11:g.207050997C>A	TOPMed
YOD1	Q5VVQ6	p.His13Gln	rs765201156	missense variant	-	NC_000001.11:g.207050992G>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.His13Tyr	rs1009770682	missense variant	-	NC_000001.11:g.207050994G>A	TOPMed
YOD1	Q5VVQ6	p.His13Gln	rs765201156	missense variant	-	NC_000001.11:g.207050992G>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.His13Pro	rs1278838510	missense variant	-	NC_000001.11:g.207050993T>G	TOPMed
YOD1	Q5VVQ6	p.Pro14Leu	rs753406894	missense variant	-	NC_000001.11:g.207050990G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Pro14Ser	rs565704574	missense variant	-	NC_000001.11:g.207050991G>A	1000Genomes,ExAC,gnomAD
YOD1	Q5VVQ6	p.Pro14Arg	rs753406894	missense variant	-	NC_000001.11:g.207050990G>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ala15Val	rs765860156	missense variant	-	NC_000001.11:g.207050987G>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala15Glu	rs765860156	missense variant	-	NC_000001.11:g.207050987G>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Pro16His	rs1441934448	missense variant	-	NC_000001.11:g.207050984G>T	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Pro16Arg	rs1441934448	missense variant	-	NC_000001.11:g.207050984G>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly17Ser	rs1325347603	missense variant	-	NC_000001.11:g.207050982C>T	gnomAD
YOD1	Q5VVQ6	p.Gly17Val	rs532257170	missense variant	-	NC_000001.11:g.207050981C>A	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Phe18Leu	rs563387440	missense variant	-	NC_000001.11:g.207050977G>T	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Phe18Ser	rs1376041975	missense variant	-	NC_000001.11:g.207050978A>G	TOPMed
YOD1	Q5VVQ6	p.Pro19Leu	rs530167183	missense variant	-	NC_000001.11:g.207050975G>A	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Pro19Ser	rs549752987	missense variant	-	NC_000001.11:g.207050976G>A	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly20Arg	rs1371529379	missense variant	-	NC_000001.11:g.207050973C>G	TOPMed
YOD1	Q5VVQ6	p.Gly21Arg	rs1454496374	missense variant	-	NC_000001.11:g.207050970C>G	gnomAD
YOD1	Q5VVQ6	p.Val22Ile	rs1039331999	missense variant	-	NC_000001.11:g.207050967C>T	gnomAD
YOD1	Q5VVQ6	p.Ser23Phe	rs1446758035	missense variant	-	NC_000001.11:g.207050963G>A	gnomAD
YOD1	Q5VVQ6	p.Gln24Lys	rs780009774	missense variant	-	NC_000001.11:g.207050961G>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gln24Glu	rs780009774	missense variant	-	NC_000001.11:g.207050961G>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gln24Arg	rs1234695787	missense variant	-	NC_000001.11:g.207050960T>C	TOPMed
YOD1	Q5VVQ6	p.Gln25Arg	rs746107083	missense variant	-	NC_000001.11:g.207050957T>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gln25Ter	rs983619989	stop gained	-	NC_000001.11:g.207050958G>A	gnomAD
YOD1	Q5VVQ6	p.Gln25Glu	rs983619989	missense variant	-	NC_000001.11:g.207050958G>C	gnomAD
YOD1	Q5VVQ6	p.Ala26Val	rs561023930	missense variant	-	NC_000001.11:g.207050954G>A	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala27Gly	rs1430227985	missense variant	-	NC_000001.11:g.207050951G>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala27Pro	rs541136434	missense variant	-	NC_000001.11:g.207050952C>G	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala27Thr	rs541136434	missense variant	-	NC_000001.11:g.207050952C>T	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala27Ser	rs541136434	missense variant	-	NC_000001.11:g.207050952C>A	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala27Val	rs1430227985	missense variant	-	NC_000001.11:g.207050951G>A	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala27Asp	rs1430227985	missense variant	-	NC_000001.11:g.207050951G>T	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly28Arg	rs200758571	missense variant	-	NC_000001.11:g.207050949C>G	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly28Ala	rs1421445321	missense variant	-	NC_000001.11:g.207050948C>G	gnomAD
YOD1	Q5VVQ6	p.Gly28Arg	rs200758571	missense variant	-	NC_000001.11:g.207050949C>T	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Thr29Ile	rs201269070	missense variant	-	NC_000001.11:g.207050945G>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Thr29Ala	rs753746933	missense variant	-	NC_000001.11:g.207050946T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Lys30Glu	rs1434778844	missense variant	-	NC_000001.11:g.207050943T>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala31Thr	rs1426882875	missense variant	-	NC_000001.11:g.207050940C>T	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Pro33Ser	rs116505937	missense variant	-	NC_000001.11:g.207050934G>A	1000Genomes,ExAC
YOD1	Q5VVQ6	p.Pro33His	rs767315302	missense variant	-	NC_000001.11:g.207050933G>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Pro33Leu	rs767315302	missense variant	-	NC_000001.11:g.207050933G>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala34Val	rs1457681999	missense variant	-	NC_000001.11:g.207050930G>A	TOPMed
YOD1	Q5VVQ6	p.Gly35Val	rs1243070914	missense variant	-	NC_000001.11:g.207050927C>A	gnomAD
YOD1	Q5VVQ6	p.Ala36Val	rs764493387	missense variant	-	NC_000001.11:g.207050924G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ala36Ser	rs545732408	missense variant	-	NC_000001.11:g.207050925C>A	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Trp37Ter	rs1326075064	stop gained	-	NC_000001.11:g.207050920C>T	TOPMed
YOD1	Q5VVQ6	p.Pro38Thr	rs763559031	missense variant	-	NC_000001.11:g.207050919G>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Pro38Ser	rs763559031	missense variant	-	NC_000001.11:g.207050919G>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Pro38Leu	rs776024148	missense variant	-	NC_000001.11:g.207050918G>A	ExAC
YOD1	Q5VVQ6	p.Pro38Ala	rs763559031	missense variant	-	NC_000001.11:g.207050919G>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Val39Met	rs770180166	missense variant	-	NC_000001.11:g.207050916C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Arg42Pro	rs776571331	missense variant	-	NC_000001.11:g.207050906C>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg42Trp	rs746000674	missense variant	-	NC_000001.11:g.207050907G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Thr43Ile	rs1299293898	missense variant	-	NC_000001.11:g.207050903G>A	TOPMed
YOD1	Q5VVQ6	p.Arg48Trp	rs1231453692	missense variant	-	NC_000001.11:g.207050889G>A	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg50His	rs576800385	missense variant	-	NC_000001.11:g.207050882C>T	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Cys51Phe	rs1358468794	missense variant	-	NC_000001.11:g.207050879C>A	TOPMed
YOD1	Q5VVQ6	p.Ala53Val	rs1401607197	missense variant	-	NC_000001.11:g.207050873G>A	gnomAD
YOD1	Q5VVQ6	p.Ala53Gly	COSM116566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207050873G>C	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Asp55Glu	rs747180418	missense variant	-	NC_000001.11:g.207050866G>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Asp55Glu	COSM1320528	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207050866G>C	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Gly56Cys	rs778687294	missense variant	-	NC_000001.11:g.207050865C>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly56Arg	rs778687294	missense variant	-	NC_000001.11:g.207050865C>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.His58Gln	rs1415284430	missense variant	-	NC_000001.11:g.207050857A>C	gnomAD
YOD1	Q5VVQ6	p.Val59Ala	rs749209354	missense variant	-	NC_000001.11:g.207050855A>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Val59Ile	rs754732226	missense variant	-	NC_000001.11:g.207050856C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Gly62Glu	rs780085839	missense variant	-	NC_000001.11:g.207050846C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ser64Phe	rs970532602	missense variant	-	NC_000001.11:g.207050840G>A	TOPMed
YOD1	Q5VVQ6	p.Ser65Arg	rs1173335674	missense variant	-	NC_000001.11:g.207050836G>T	gnomAD
YOD1	Q5VVQ6	p.Ser65Asn	rs1419786445	missense variant	-	NC_000001.11:g.207050837C>T	gnomAD
YOD1	Q5VVQ6	p.Thr67Ser	rs1417541227	missense variant	-	NC_000001.11:g.207050831G>C	gnomAD
YOD1	Q5VVQ6	p.Val69CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207050826C>-	NCI-TCGA
YOD1	Q5VVQ6	p.Arg70Gly	rs750013764	missense variant	-	NC_000001.11:g.207050823G>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg70Trp	rs750013764	missense variant	-	NC_000001.11:g.207050823G>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg70ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207050809_207050822GCCCTGGAGTTCCC>-	NCI-TCGA
YOD1	Q5VVQ6	p.Gln73Arg	rs1231250293	missense variant	-	NC_000001.11:g.207050813T>C	gnomAD
YOD1	Q5VVQ6	p.Gln73His	rs767119057	missense variant	-	NC_000001.11:g.207050812C>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Gly74Ser	rs145388036	missense variant	-	NC_000001.11:g.207050811C>T	ESP,gnomAD
YOD1	Q5VVQ6	p.Gln75His	rs557030378	missense variant	-	NC_000001.11:g.207050806T>G	1000Genomes,ExAC,gnomAD
YOD1	Q5VVQ6	p.Ile76Leu	rs751188925	missense variant	-	NC_000001.11:g.207050805T>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ala77Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207050802C>T	NCI-TCGA
YOD1	Q5VVQ6	p.Ile79Val	rs1332459434	missense variant	-	NC_000001.11:g.207050796T>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ile82Val	rs1370554704	missense variant	-	NC_000001.11:g.207050787T>C	TOPMed
YOD1	Q5VVQ6	p.Pro84Leu	rs763326986	missense variant	-	NC_000001.11:g.207050780G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Gly85Arg	rs568508283	missense variant	-	NC_000001.11:g.207050778C>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly85Ser	rs568508283	missense variant	-	NC_000001.11:g.207050778C>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly85Cys	rs568508283	missense variant	-	NC_000001.11:g.207050778C>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly86Val	rs770934117	missense variant	-	NC_000001.11:g.207050774C>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Val91Ile	rs372148879	missense variant	-	NC_000001.11:g.207050760C>T	ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly92Arg	rs1426141968	missense variant	-	NC_000001.11:g.207050757C>G	gnomAD
YOD1	Q5VVQ6	p.Tyr93His	rs1455126372	missense variant	-	NC_000001.11:g.207050754A>G	TOPMed
YOD1	Q5VVQ6	p.Pro94Leu	rs773378962	missense variant	-	NC_000001.11:g.207050750G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Pro95Thr	rs772256355	missense variant	-	NC_000001.11:g.207050748G>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Glu96Lys	rs1370721597	missense variant	-	NC_000001.11:g.207050745C>T	gnomAD
YOD1	Q5VVQ6	p.Glu96Asp	rs900231254	missense variant	-	NC_000001.11:g.207050743C>G	TOPMed
YOD1	Q5VVQ6	p.Cys97Tyr	rs779707177	missense variant	-	NC_000001.11:g.207050741C>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Cys97Phe	rs779707177	missense variant	-	NC_000001.11:g.207050741C>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ser101Asn	rs1299542402	missense variant	-	NC_000001.11:g.207050729C>T	gnomAD
YOD1	Q5VVQ6	p.Gly103Arg	rs745733013	missense variant	-	NC_000001.11:g.207050724C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Thr105Ile	rs1323492621	missense variant	-	NC_000001.11:g.207050717G>A	gnomAD
YOD1	Q5VVQ6	p.Thr105Ala	rs36109022	missense variant	-	NC_000001.11:g.207050718T>C	ESP,ExAC,TOPMed
YOD1	Q5VVQ6	p.Thr105Pro	rs36109022	missense variant	-	NC_000001.11:g.207050718T>G	ESP,ExAC,TOPMed
YOD1	Q5VVQ6	p.Leu107Val	rs36074761	missense variant	-	NC_000001.11:g.207050712G>C	gnomAD
YOD1	Q5VVQ6	p.Leu110Ser	rs751278996	missense variant	-	NC_000001.11:g.207050702A>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Leu110Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207050703A>C	NCI-TCGA
YOD1	Q5VVQ6	p.Pro111Ser	rs1039301185	missense variant	-	NC_000001.11:g.207050700G>A	TOPMed
YOD1	Q5VVQ6	p.Asp116Tyr	rs1465232733	missense variant	-	NC_000001.11:g.207049721C>A	TOPMed
YOD1	Q5VVQ6	p.Met117Val	rs1171571881	missense variant	-	NC_000001.11:g.207049718T>C	TOPMed
YOD1	Q5VVQ6	p.Met117Ile	rs370466943	missense variant	-	NC_000001.11:g.207049716C>T	ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ile120Thr	rs769652373	missense variant	-	NC_000001.11:g.207049708A>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Asp123Glu	rs776563979	missense variant	-	NC_000001.11:g.207049698G>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Asp123Glu	rs776563979	missense variant	-	NC_000001.11:g.207049698G>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Asp123Gly	rs1234981489	missense variant	-	NC_000001.11:g.207049699T>C	gnomAD
YOD1	Q5VVQ6	p.Asp123Ala	rs1234981489	missense variant	-	NC_000001.11:g.207049699T>G	gnomAD
YOD1	Q5VVQ6	p.Gln124Lys	rs1401081729	missense variant	-	NC_000001.11:g.207049697G>T	gnomAD
YOD1	Q5VVQ6	p.Thr125Ser	rs1400978935	missense variant	-	NC_000001.11:g.207049693G>C	gnomAD
YOD1	Q5VVQ6	p.Thr125Ala	rs771050145	missense variant	-	NC_000001.11:g.207049694T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Thr125Asn	rs1400978935	missense variant	-	NC_000001.11:g.207049693G>T	gnomAD
YOD1	Q5VVQ6	p.Arg126Ser	rs1010707876	missense variant	-	NC_000001.11:g.207049689C>A	TOPMed
YOD1	Q5VVQ6	p.Pro127Ser	rs746886016	missense variant	-	NC_000001.11:g.207049688G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ser129Gly	rs1232327811	missense variant	-	NC_000001.11:g.207049682T>C	TOPMed
YOD1	Q5VVQ6	p.Ser129Asn	rs747861674	missense variant	-	NC_000001.11:g.207049681C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Pro131Arg	rs1386289716	missense variant	-	NC_000001.11:g.207049675G>C	gnomAD
YOD1	Q5VVQ6	p.Pro131His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049675G>T	NCI-TCGA
YOD1	Q5VVQ6	p.Ala132Pro	rs778483393	missense variant	-	NC_000001.11:g.207049673C>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg136His	rs181845723	missense variant	-	NC_000001.11:g.207049660C>T	1000Genomes,ESP,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly137Ser	rs1372703172	missense variant	-	NC_000001.11:g.207049658C>T	gnomAD
YOD1	Q5VVQ6	p.Ser139Pro	rs1169539963	missense variant	-	NC_000001.11:g.207049652A>G	gnomAD
YOD1	Q5VVQ6	p.Val142Ile	rs780380722	missense variant	-	NC_000001.11:g.207049643C>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Val142Leu	rs780380722	missense variant	-	NC_000001.11:g.207049643C>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Leu146Ser	rs1039702892	missense variant	-	NC_000001.11:g.207049630A>G	TOPMed
YOD1	Q5VVQ6	p.Leu146Phe	rs750860045	missense variant	-	NC_000001.11:g.207049629C>A	ExAC
YOD1	Q5VVQ6	p.Pro147Ser	rs767665086	missense variant	-	NC_000001.11:g.207049628G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Val148Leu	rs757234099	missense variant	-	NC_000001.11:g.207049625C>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Leu149Phe	rs751635990	missense variant	-	NC_000001.11:g.207049622G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Thr152Asn	rs1453473571	missense variant	-	NC_000001.11:g.207049612G>T	TOPMed
YOD1	Q5VVQ6	p.Val154Ala	rs1396690912	missense variant	-	NC_000001.11:g.207049606A>G	TOPMed
YOD1	Q5VVQ6	p.Cys160Tyr	rs1257167658	missense variant	-	NC_000001.11:g.207049588C>T	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Leu161Phe	rs776582412	missense variant	-	NC_000001.11:g.207049586G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ser164Arg	rs1233214008	missense variant	-	NC_000001.11:g.207049575A>T	gnomAD
YOD1	Q5VVQ6	p.Ser164Asn	COSM5745804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049576C>T	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Tyr166His	rs760728190	missense variant	-	NC_000001.11:g.207049571A>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Tyr166Cys	rs772977018	missense variant	-	NC_000001.11:g.207049570T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Tyr167Cys	rs772028326	missense variant	-	NC_000001.11:g.207049567T>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Val168Ile	rs1467335807	missense variant	-	NC_000001.11:g.207049565C>T	gnomAD
YOD1	Q5VVQ6	p.Val169Ile	rs1402215524	missense variant	-	NC_000001.11:g.207049562C>T	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Val169Leu	rs1402215524	missense variant	-	NC_000001.11:g.207049562C>G	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Glu170Lys	rs773903795	missense variant	-	NC_000001.11:g.207049559C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Gly171Glu	COSM2150739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049555C>T	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Gly172Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049552C>G	NCI-TCGA
YOD1	Q5VVQ6	p.Val173Ala	rs1368972461	missense variant	-	NC_000001.11:g.207049549A>G	gnomAD
YOD1	Q5VVQ6	p.Ala177Val	rs930157982	missense variant	-	NC_000001.11:g.207049537G>A	TOPMed
YOD1	Q5VVQ6	p.Ala179Gly	rs962716600	missense variant	-	NC_000001.11:g.207049531G>C	TOPMed
YOD1	Q5VVQ6	p.Pro180Leu	rs1198897327	missense variant	-	NC_000001.11:g.207049528G>A	gnomAD
YOD1	Q5VVQ6	p.Glu181Asp	rs756427873	missense variant	-	NC_000001.11:g.207049524C>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Met182Val	rs746394478	missense variant	-	NC_000001.11:g.207049523T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Arg183Ser	rs1213440533	missense variant	-	NC_000001.11:g.207049518T>G	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg184His	rs1286433880	missense variant	-	NC_000001.11:g.207049516C>T	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg184Leu	COSM3803704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049516C>A	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Arg184Cys	rs772683929	missense variant	-	NC_000001.11:g.207049517G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Leu185Arg	rs1268040501	missense variant	-	NC_000001.11:g.207049513A>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ile186Val	rs751648828	missense variant	-	NC_000001.11:g.207049511T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ile186Thr	rs779894187	missense variant	-	NC_000001.11:g.207049510A>G	TOPMed
YOD1	Q5VVQ6	p.Ala187Thr	rs1449290099	missense variant	-	NC_000001.11:g.207049508C>T	gnomAD
YOD1	Q5VVQ6	p.Ile189Met	rs764177106	missense variant	-	NC_000001.11:g.207049500A>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ile189Asn	rs1369051532	missense variant	-	NC_000001.11:g.207049501A>T	gnomAD
YOD1	Q5VVQ6	p.Ser192Asn	rs981028229	missense variant	-	NC_000001.11:g.207049492C>T	gnomAD
YOD1	Q5VVQ6	p.Ser192Arg	rs115190692	missense variant	-	NC_000001.11:g.207049491G>T	1000Genomes,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Asp193Asn	rs766301432	missense variant	-	NC_000001.11:g.207049490C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Tyr197Cys	rs370833416	missense variant	-	NC_000001.11:g.207049477T>C	ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ser198Gly	rs147748093	missense variant	-	NC_000001.11:g.207049475T>C	ESP,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Glu199Lys	rs1250725357	missense variant	-	NC_000001.11:g.207049472C>T	gnomAD
YOD1	Q5VVQ6	p.Ala200Thr	rs202052371	missense variant	-	NC_000001.11:g.207049469C>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ile201Val	rs750884001	missense variant	-	NC_000001.11:g.207049466T>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly203Glu	rs1292404647	missense variant	-	NC_000001.11:g.207049459C>T	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Thr205Lys	rs773743947	missense variant	-	NC_000001.11:g.207049453G>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Thr205Arg	rs773743947	missense variant	-	NC_000001.11:g.207049453G>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gln207Ter	rs1350509502	stop gained	-	NC_000001.11:g.207049448G>A	gnomAD
YOD1	Q5VVQ6	p.Cys210Gly	rs748967815	missense variant	-	NC_000001.11:g.207049439A>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Cys210Arg	rs748967815	missense variant	-	NC_000001.11:g.207049439A>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Trp212Cys	rs1242396123	missense variant	-	NC_000001.11:g.207049431C>A	gnomAD
YOD1	Q5VVQ6	p.Trp212Arg	rs1459888174	missense variant	-	NC_000001.11:g.207049433A>G	TOPMed
YOD1	Q5VVQ6	p.Trp212Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.207049431C>T	NCI-TCGA
YOD1	Q5VVQ6	p.Ile213Val	rs202025113	missense variant	-	NC_000001.11:g.207049430T>C	1000Genomes,ExAC,gnomAD
YOD1	Q5VVQ6	p.Lys214Arg	rs1302914945	missense variant	-	NC_000001.11:g.207049426T>C	gnomAD
YOD1	Q5VVQ6	p.Asp216Asn	rs1437409728	missense variant	-	NC_000001.11:g.207049421C>T	gnomAD
YOD1	Q5VVQ6	p.Asp217Glu	rs1331495795	missense variant	-	NC_000001.11:g.207049416G>C	gnomAD
YOD1	Q5VVQ6	p.Thr218Ser	rs1325202645	missense variant	-	NC_000001.11:g.207049415T>A	gnomAD
YOD1	Q5VVQ6	p.Gly220Arg	rs1034752363	missense variant	-	NC_000001.11:g.207049409C>T	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly221Ala	rs746259721	missense variant	-	NC_000001.11:g.207049405C>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ala222Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049402G>A	NCI-TCGA
YOD1	Q5VVQ6	p.Glu224Lys	rs1013716970	missense variant	-	NC_000001.11:g.207049397C>T	-
YOD1	Q5VVQ6	p.Glu224Val	COSM111735	inframe deletion	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049388_207049396TCGATATCT>-	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Ser226Ala	rs141568066	missense variant	-	NC_000001.11:g.207049391A>C	ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ser226Pro	rs141568066	missense variant	-	NC_000001.11:g.207049391A>G	ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ser229Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049381G>A	NCI-TCGA
YOD1	Q5VVQ6	p.Lys230Arg	rs969470999	missense variant	-	NC_000001.11:g.207049378T>C	TOPMed
YOD1	Q5VVQ6	p.Ile236Met	rs1364468719	missense variant	-	NC_000001.11:g.207049359T>C	TOPMed
YOD1	Q5VVQ6	p.Val238Ala	rs758500991	missense variant	-	NC_000001.11:g.207049354A>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Thr241Lys	rs752799654	missense variant	-	NC_000001.11:g.207049345G>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Thr241Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049345G>A	NCI-TCGA
YOD1	Q5VVQ6	p.Gln242Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049343G>C	NCI-TCGA
YOD1	Q5VVQ6	p.Gln242Ter	rs779314487	stop gained	-	NC_000001.11:g.207049343G>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Val244Ile	rs1264506167	missense variant	-	NC_000001.11:g.207049337C>T	gnomAD
YOD1	Q5VVQ6	p.Arg245Lys	rs1218945664	missense variant	-	NC_000001.11:g.207049333C>T	gnomAD
YOD1	Q5VVQ6	p.Asp247Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049327T>C	NCI-TCGA
YOD1	Q5VVQ6	p.Arg248His	rs750247312	missense variant	-	NC_000001.11:g.207049324C>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ala253Gly	rs1276453018	missense variant	-	NC_000001.11:g.207049309G>C	gnomAD
YOD1	Q5VVQ6	p.Gly254Ala	rs767775929	missense variant	-	NC_000001.11:g.207049306C>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly254Glu	rs767775929	missense variant	-	NC_000001.11:g.207049306C>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly254Val	rs767775929	missense variant	-	NC_000001.11:g.207049306C>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Tyr255Cys	rs370174396	missense variant	-	NC_000001.11:g.207049303T>C	ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Thr256Ile	rs1332858873	missense variant	-	NC_000001.11:g.207049300G>A	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Thr256Ala	rs774950170	missense variant	-	NC_000001.11:g.207049301T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Lys257Arg	rs1031525232	missense variant	-	NC_000001.11:g.207049297T>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Leu260Met	COSM1338370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049289G>T	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Gly265Asp	rs1240163988	missense variant	-	NC_000001.11:g.207049273C>T	TOPMed
YOD1	Q5VVQ6	p.Tyr268Cys	rs1424741649	missense variant	-	NC_000001.11:g.207049264T>C	gnomAD
YOD1	Q5VVQ6	p.Asp269His	rs1196499438	missense variant	-	NC_000001.11:g.207049262C>G	gnomAD
YOD1	Q5VVQ6	p.Leu271Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049256G>C	NCI-TCGA
YOD1	Q5VVQ6	p.Gln272His	rs771286369	missense variant	-	NC_000001.11:g.207049251C>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gln272His	rs771286369	missense variant	-	NC_000001.11:g.207049251C>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gln272Lys	rs1167241785	missense variant	-	NC_000001.11:g.207049253G>T	TOPMed
YOD1	Q5VVQ6	p.Arg273His	rs189355581	missense variant	-	NC_000001.11:g.207049249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg273Cys	rs747490516	missense variant	-	NC_000001.11:g.207049250G>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Asn274Lys	rs1161497777	missense variant	-	NC_000001.11:g.207049245G>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Asp277His	rs1271110116	missense variant	-	NC_000001.11:g.207049238C>G	gnomAD
YOD1	Q5VVQ6	p.Asp277Asn	rs1271110116	missense variant	-	NC_000001.11:g.207049238C>T	gnomAD
YOD1	Q5VVQ6	p.Pro278Ala	rs772673359	missense variant	-	NC_000001.11:g.207049235G>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Pro278Thr	COSM116182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049235G>T	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Asp279Val	rs779118246	missense variant	-	NC_000001.11:g.207049231T>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Thr280Ile	rs754028989	missense variant	-	NC_000001.11:g.207049228G>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Thr280Ala	rs755173166	missense variant	-	NC_000001.11:g.207049229T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Pro282His	rs757030638	missense variant	-	NC_000001.11:g.207049222G>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Phe286Val	rs200240324	missense variant	-	NC_000001.11:g.207049211A>C	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Ser287Phe	rs1173265010	missense variant	-	NC_000001.11:g.207049207G>A	gnomAD
YOD1	Q5VVQ6	p.Asn289Thr	rs752263355	missense variant	-	NC_000001.11:g.207049201T>G	ExAC,gnomAD
YOD1	Q5VVQ6	p.Asn289Ser	rs752263355	missense variant	-	NC_000001.11:g.207049201T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Asp290Gly	rs764660457	missense variant	-	NC_000001.11:g.207049198T>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Asp290Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049199C>T	NCI-TCGA
YOD1	Q5VVQ6	p.Ile292Val	rs1473835313	missense variant	-	NC_000001.11:g.207049193T>C	gnomAD
YOD1	Q5VVQ6	p.Val293Ile	rs759142021	missense variant	-	NC_000001.11:g.207049190C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Leu294Val	rs1178271102	missense variant	-	NC_000001.11:g.207049187G>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Leu294His	rs1458330793	missense variant	-	NC_000001.11:g.207049186A>T	gnomAD
YOD1	Q5VVQ6	p.Leu294Phe	rs1178271102	missense variant	-	NC_000001.11:g.207049187G>A	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Val295Ile	rs776296163	missense variant	-	NC_000001.11:g.207049184C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Ala304Val	rs1216319172	missense variant	-	NC_000001.11:g.207049156G>A	TOPMed
YOD1	Q5VVQ6	p.Arg305Thr	COSM3789410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049153C>G	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Arg306Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049150C>T	NCI-TCGA
YOD1	Q5VVQ6	p.Gln309Arg	rs1228782180	missense variant	-	NC_000001.11:g.207049141T>C	gnomAD
YOD1	Q5VVQ6	p.Phe310Cys	rs1277208415	missense variant	-	NC_000001.11:g.207049138A>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Phe310Leu	rs1445590095	missense variant	-	NC_000001.11:g.207049137A>C	gnomAD
YOD1	Q5VVQ6	p.Asn314Ser	rs139358134	missense variant	-	NC_000001.11:g.207049126T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg315Cys	rs774581441	missense variant	-	NC_000001.11:g.207049124G>A	ExAC,gnomAD
YOD1	Q5VVQ6	p.Arg315His	rs974259983	missense variant	-	NC_000001.11:g.207049123C>T	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg315Ser	rs774581441	missense variant	-	NC_000001.11:g.207049124G>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Thr317Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.207049118T>C	NCI-TCGA
YOD1	Q5VVQ6	p.Cys320Tyr	rs749496673	missense variant	-	NC_000001.11:g.207049108C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Met321Leu	rs150517912	missense variant	-	NC_000001.11:g.207049106T>G	ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly326Arg	rs1178098053	missense variant	-	NC_000001.11:g.207049091C>G	gnomAD
YOD1	Q5VVQ6	p.Glu332Gln	rs777531418	missense variant	-	NC_000001.11:g.207049073C>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Glu332Asp	rs758336309	missense variant	-	NC_000001.11:g.207049071T>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Glu332Lys	rs777531418	missense variant	-	NC_000001.11:g.207049073C>T	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Arg334Ser	rs148018717	missense variant	-	NC_000001.11:g.207049065C>G	ESP,ExAC,gnomAD
YOD1	Q5VVQ6	p.Glu335Lys	rs764673837	missense variant	-	NC_000001.11:g.207049064C>T	ExAC,gnomAD
YOD1	Q5VVQ6	p.Glu335AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.207049064C>-	NCI-TCGA
YOD1	Q5VVQ6	p.Lys338Arg	rs1265655896	missense variant	-	NC_000001.11:g.207049054T>C	TOPMed,gnomAD
YOD1	Q5VVQ6	p.Thr340Ile	COSM4863929	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049048G>A	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Thr340Arg	rs1355545832	missense variant	-	NC_000001.11:g.207049048G>C	TOPMed
YOD1	Q5VVQ6	p.His342Leu	rs754563952	missense variant	-	NC_000001.11:g.207049042T>A	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.His342Arg	COSM3482568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.207049042T>C	NCI-TCGA Cosmic
YOD1	Q5VVQ6	p.Thr343Pro	rs753253807	missense variant	-	NC_000001.11:g.207049040T>G	ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Asn344Ser	rs143996234	missense variant	-	NC_000001.11:g.207049036T>C	ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Gly346Ala	rs147110080	missense variant	-	NC_000001.11:g.207049030C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
YOD1	Q5VVQ6	p.Val348Gly	rs762445569	missense variant	-	NC_000001.11:g.207049024A>C	ExAC,gnomAD
YOD1	Q5VVQ6	p.Val348Met	rs918185011	missense variant	-	NC_000001.11:g.207049025C>T	gnomAD
TENT5C	Q5VWP2	p.Ser5Gly	COSM4404621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117622881A>G	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Ser5Asn	rs1443775776	missense variant	-	NC_000001.11:g.117622882G>A	gnomAD
TENT5C	Q5VWP2	p.Arg9Ser	rs1236957064	missense variant	-	NC_000001.11:g.117622895G>C	TOPMed
TENT5C	Q5VWP2	p.Asp10Asn	COSM3471991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117622896G>A	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Cys11Arg	rs772416638	missense variant	-	NC_000001.11:g.117622899T>C	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Met12Leu	rs1324426912	missense variant	-	NC_000001.11:g.117622902A>C	TOPMed
TENT5C	Q5VWP2	p.Met12Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117622902A>G	NCI-TCGA
TENT5C	Q5VWP2	p.Met12Ile	rs773475817	missense variant	-	NC_000001.11:g.117622904G>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Val16Met	rs34495780	missense variant	-	NC_000001.11:g.117622914G>A	ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Val16Met	RCV000120905	missense variant	-	NC_000001.11:g.117622914G>A	ClinVar
TENT5C	Q5VWP2	p.Val16Gly	rs1376138887	missense variant	-	NC_000001.11:g.117622915T>G	gnomAD
TENT5C	Q5VWP2	p.Asn18Ile	rs776635415	missense variant	-	NC_000001.11:g.117622921A>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asn18Ser	rs776635415	missense variant	-	NC_000001.11:g.117622921A>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asp20Tyr	rs912269955	missense variant	-	NC_000001.11:g.117622926G>T	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Asp20Asn	rs912269955	missense variant	-	NC_000001.11:g.117622926G>A	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Gln21His	rs1279927757	missense variant	-	NC_000001.11:g.117622931G>C	TOPMed
TENT5C	Q5VWP2	p.Val28Ile	rs1374365686	missense variant	-	NC_000001.11:g.117622950G>A	TOPMed
TENT5C	Q5VWP2	p.Thr30Ser	RCV000120904	missense variant	-	NC_000001.11:g.117622957C>G	ClinVar
TENT5C	Q5VWP2	p.Thr30Ala	rs758089123	missense variant	-	NC_000001.11:g.117622956A>G	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Thr30Ser	rs758089123	missense variant	-	NC_000001.11:g.117622956A>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Thr30Ser	rs587778307	missense variant	-	NC_000001.11:g.117622957C>G	-
TENT5C	Q5VWP2	p.Val32Ile	rs1260403191	missense variant	-	NC_000001.11:g.117622962G>A	gnomAD
TENT5C	Q5VWP2	p.Val33Ile	rs751161016	missense variant	-	NC_000001.11:g.117622965G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ile35Thr	rs749814000	missense variant	-	NC_000001.11:g.117622972T>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ile35Val	rs1173277102	missense variant	-	NC_000001.11:g.117622971A>G	TOPMed
TENT5C	Q5VWP2	p.Gly37Arg	rs779398843	missense variant	-	NC_000001.11:g.117622977G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg38Ter	rs921184290	stop gained	-	NC_000001.11:g.117622980C>T	TOPMed
TENT5C	Q5VWP2	p.Arg38Gln	rs148397151	missense variant	-	NC_000001.11:g.117622981G>A	ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg38Ter	rs921184290	stop gained	-	NC_000001.11:g.117622980C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Gly39Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117622984G>C	NCI-TCGA
TENT5C	Q5VWP2	p.Asn40Lys	rs772518025	missense variant	-	NC_000001.11:g.117622988C>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asn40Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117622987A>G	NCI-TCGA
TENT5C	Q5VWP2	p.Phe41Val	rs1378831831	missense variant	-	NC_000001.11:g.117622989T>G	TOPMed
TENT5C	Q5VWP2	p.Pro42Ser	COSM3471992	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117622992C>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Leu44Val	rs953053109	missense variant	-	NC_000001.11:g.117622998T>G	gnomAD
TENT5C	Q5VWP2	p.Glu45Gln	rs773602227	missense variant	-	NC_000001.11:g.117623001G>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ile46Thr	rs1230332453	missense variant	-	NC_000001.11:g.117623005T>C	gnomAD
TENT5C	Q5VWP2	p.Ile46Val	rs747161845	missense variant	-	NC_000001.11:g.117623004A>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asp50Asn	rs1186011113	missense variant	-	NC_000001.11:g.117623016G>A	TOPMed
TENT5C	Q5VWP2	p.Val52Ile	rs538766512	missense variant	-	NC_000001.11:g.117623022G>A	1000Genomes,ExAC,gnomAD
TENT5C	Q5VWP2	p.Val52Ile	rs538766512	missense variant	-	NC_000001.11:g.117623022G>A	NCI-TCGA,NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Gln53Pro	rs553880208	missense variant	-	NC_000001.11:g.117623026A>C	1000Genomes,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Thr54Ile	rs775316333	missense variant	-	NC_000001.11:g.117623029C>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Val55Ile	rs763834209	missense variant	-	NC_000001.11:g.117623031G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Arg56Leu	rs565811357	missense variant	-	NC_000001.11:g.117623035G>T	1000Genomes,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg56His	rs565811357	missense variant	-	NC_000001.11:g.117623035G>A	1000Genomes,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg56His	rs565811357	missense variant	-	NC_000001.11:g.117623035G>A	NCI-TCGA,NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Arg56Cys	rs756798728	missense variant	-	NC_000001.11:g.117623034C>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ser57Arg	rs755549163	missense variant	-	NC_000001.11:g.117623039T>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Arg58Trp	rs768091631	missense variant	-	NC_000001.11:g.117623040C>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg58Gln	rs776281952	missense variant	-	NC_000001.11:g.117623041G>A	TOPMed,gnomAD
TENT5C	Q5VWP2	p.His67Gln	rs1630312	missense variant	-	NC_000001.11:g.117623069C>G	UniProt,dbSNP
TENT5C	Q5VWP2	p.His67Gln	VAR_060132	missense variant	-	NC_000001.11:g.117623069C>G	UniProt
TENT5C	Q5VWP2	p.His67Gln	rs1630312	missense variant	-	NC_000001.11:g.117623069C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.His67Gln	RCV000120902	missense variant	-	NC_000001.11:g.117623069C>G	ClinVar
TENT5C	Q5VWP2	p.His67Arg	rs758840994	missense variant	-	NC_000001.11:g.117623068A>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asp68Asn	rs771057074	missense variant	-	NC_000001.11:g.117623070G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Val69Ile	rs745917069	missense variant	-	NC_000001.11:g.117623073G>A	NCI-TCGA,NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Val69Ile	rs745917069	missense variant	-	NC_000001.11:g.117623073G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg70Trp	rs1432369724	missense variant	-	NC_000001.11:g.117623076C>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Arg70Trp	rs1432369724	missense variant	-	NC_000001.11:g.117623076C>T	TOPMed
TENT5C	Q5VWP2	p.Asn72Asp	rs762807647	missense variant	-	NC_000001.11:g.117623082A>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asn72Ser	rs1355231501	missense variant	-	NC_000001.11:g.117623083A>G	gnomAD
TENT5C	Q5VWP2	p.Ala75Thr	rs1278971822	missense variant	-	NC_000001.11:g.117623091G>A	gnomAD
TENT5C	Q5VWP2	p.Ala75Thr	rs1278971822	missense variant	-	NC_000001.11:g.117623091G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Val79Ile	rs1211776583	missense variant	-	NC_000001.11:g.117623103G>A	gnomAD
TENT5C	Q5VWP2	p.Lys82Arg	rs1165810632	missense variant	-	NC_000001.11:g.117623113A>G	TOPMed
TENT5C	Q5VWP2	p.Leu86Phe	rs767046262	missense variant	-	NC_000001.11:g.117623126G>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Gly87Val	rs1385230345	missense variant	-	NC_000001.11:g.117623128G>T	TOPMed
TENT5C	Q5VWP2	p.Cys88Phe	rs765921039	missense variant	-	NC_000001.11:g.117623131G>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Leu93Val	rs139168147	missense variant	-	NC_000001.11:g.117623145C>G	ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ile94Thr	rs1354348705	missense variant	-	NC_000001.11:g.117623149T>C	gnomAD
TENT5C	Q5VWP2	p.Phe95Leu	rs757552843	missense variant	-	NC_000001.11:g.117623153C>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Phe95Ser	rs1371399685	missense variant	-	NC_000001.11:g.117623152T>C	gnomAD
TENT5C	Q5VWP2	p.Phe95Leu	rs751943358	missense variant	-	NC_000001.11:g.117623151T>C	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.His96Leu	rs781294756	missense variant	-	NC_000001.11:g.117623155A>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.His96MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.117623153C>-	NCI-TCGA
TENT5C	Q5VWP2	p.His96Gln	rs190981033	missense variant	-	NC_000001.11:g.117623156T>G	1000Genomes,ExAC,gnomAD
TENT5C	Q5VWP2	p.His96Arg	rs781294756	missense variant	-	NC_000001.11:g.117623155A>G	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ala98Pro	rs1293686110	missense variant	-	NC_000001.11:g.117623160G>C	TOPMed
TENT5C	Q5VWP2	p.Leu99Phe	rs1302106502	missense variant	-	NC_000001.11:g.117623163C>T	gnomAD
TENT5C	Q5VWP2	p.Pro100Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623166C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Phe105Leu	rs893973707	missense variant	-	NC_000001.11:g.117623181T>C	gnomAD
TENT5C	Q5VWP2	p.Gln106Leu	COSM116444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623185A>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Gln106Ter	COSM3862349	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.117623184C>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Leu107Val	rs1358461933	missense variant	-	NC_000001.11:g.117623187C>G	TOPMed
TENT5C	Q5VWP2	p.Val108Ile	rs769764155	missense variant	-	NC_000001.11:g.117623190G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asp110Asn	rs951158173	missense variant	-	NC_000001.11:g.117623196G>A	TOPMed
TENT5C	Q5VWP2	p.Asp110Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623196G>T	NCI-TCGA
TENT5C	Q5VWP2	p.Leu113Pro	rs1196590539	missense variant	-	NC_000001.11:g.117623206T>C	gnomAD
TENT5C	Q5VWP2	p.Leu113Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623205C>A	NCI-TCGA
TENT5C	Q5VWP2	p.Ser115Cys	rs780049033	missense variant	-	NC_000001.11:g.117623212C>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ser115Phe	rs780049033	missense variant	-	NC_000001.11:g.117623212C>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Ser115Phe	rs780049033	missense variant	-	NC_000001.11:g.117623212C>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Leu116Phe	COSM4990424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623214C>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Asn118Asp	rs371789381	missense variant	-	NC_000001.11:g.117623220A>G	ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Asn118Lys	rs556415905	missense variant	-	NC_000001.11:g.117623222C>A	1000Genomes,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Asn118Lys	rs556415905	missense variant	-	NC_000001.11:g.117623222C>G	1000Genomes,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Phe119Leu	rs774169628	missense variant	-	NC_000001.11:g.117623223T>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Phe119Ser	rs1303373643	missense variant	-	NC_000001.11:g.117623224T>C	TOPMed
TENT5C	Q5VWP2	p.Pro121Ser	COSM4021140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623229C>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Pro121Ala	COSM4414269	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623229C>G	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Pro121Leu	rs1191996445	missense variant	-	NC_000001.11:g.117623230C>T	gnomAD
TENT5C	Q5VWP2	p.Glu122Val	rs1419000325	missense variant	-	NC_000001.11:g.117623233A>T	gnomAD
TENT5C	Q5VWP2	p.Glu122Gly	rs1419000325	missense variant	-	NC_000001.11:g.117623233A>G	gnomAD
TENT5C	Q5VWP2	p.Gly123Ser	rs1476955055	missense variant	-	NC_000001.11:g.117623235G>A	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Gly123Val	rs1349639622	missense variant	-	NC_000001.11:g.117623236G>T	TOPMed
TENT5C	Q5VWP2	p.Gly123Cys	rs1476955055	missense variant	-	NC_000001.11:g.117623235G>T	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Gly123Ser	rs1476955055	missense variant	-	NC_000001.11:g.117623235G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Asn125Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623242A>G	NCI-TCGA
TENT5C	Q5VWP2	p.Lys128Arg	rs761490678	missense variant	-	NC_000001.11:g.117623251A>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ile129Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623254T>A	NCI-TCGA
TENT5C	Q5VWP2	p.Pro131Leu	rs774747996	missense variant	-	NC_000001.11:g.117623260C>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Val132Ile	rs1420340818	missense variant	-	NC_000001.11:g.117623262G>A	TOPMed
TENT5C	Q5VWP2	p.Thr133Ser	rs1322105910	missense variant	-	NC_000001.11:g.117623266C>G	gnomAD
TENT5C	Q5VWP2	p.Thr133Ala	rs1461402036	missense variant	-	NC_000001.11:g.117623265A>G	gnomAD
TENT5C	Q5VWP2	p.Ala137Val	rs965004236	missense variant	-	NC_000001.11:g.117623278C>T	TOPMed
TENT5C	Q5VWP2	p.Ala137Thr	rs772744645	missense variant	-	NC_000001.11:g.117623277G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Val139Met	rs766046722	missense variant	-	NC_000001.11:g.117623283G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Gln140Arg	rs376181122	missense variant	-	NC_000001.11:g.117623287A>G	ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Thr147Met	rs781549053	missense variant	-	NC_000001.11:g.117623308C>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Asp148Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623311A>G	NCI-TCGA
TENT5C	Q5VWP2	p.Thr149Ile	rs145001981	missense variant	-	NC_000001.11:g.117623314C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg151Leu	rs749332682	missense variant	-	NC_000001.11:g.117623320G>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg151His	rs749332682	missense variant	-	NC_000001.11:g.117623320G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg151Ser	rs780173405	missense variant	-	NC_000001.11:g.117623319C>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg151Cys	rs780173405	missense variant	-	NC_000001.11:g.117623319C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Arg151Cys	rs780173405	missense variant	-	NC_000001.11:g.117623319C>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ser158Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623341C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Asn159Tyr	rs201507664	missense variant	-	NC_000001.11:g.117623343A>T	1000Genomes,ExAC,gnomAD
TENT5C	Q5VWP2	p.Lys160Asn	rs1422217522	missense variant	-	NC_000001.11:g.117623348G>T	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Gly162Arg	rs1359326657	missense variant	-	NC_000001.11:g.117623352G>A	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Asn164Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623359A>T	NCI-TCGA
TENT5C	Q5VWP2	p.Val165Met	rs746707589	missense variant	-	NC_000001.11:g.117623361G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Phe169Ser	rs1170591104	missense variant	-	NC_000001.11:g.117623374T>C	TOPMed
TENT5C	Q5VWP2	p.Val170Ala	rs776332343	missense variant	-	NC_000001.11:g.117623377T>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Val170Phe	rs1282197258	missense variant	-	NC_000001.11:g.117623376G>T	gnomAD
TENT5C	Q5VWP2	p.Asp171Asn	rs147179158	missense variant	-	NC_000001.11:g.117623379G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Asp171Asn	rs147179158	missense variant	-	NC_000001.11:g.117623379G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Ile173Thr	rs762319543	missense variant	-	NC_000001.11:g.117623386T>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Arg174Trp	rs767827215	missense variant	-	NC_000001.11:g.117623388C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Arg174Gln	rs750792861	missense variant	-	NC_000001.11:g.117623389G>A	NCI-TCGA,NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Arg174Gln	rs750792861	missense variant	-	NC_000001.11:g.117623389G>A	ExAC,TOPMed
TENT5C	Q5VWP2	p.Arg174Trp	rs767827215	missense variant	-	NC_000001.11:g.117623388C>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg175Cys	rs756366617	missense variant	-	NC_000001.11:g.117623391C>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Arg175Cys	rs756366617	missense variant	-	NC_000001.11:g.117623391C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Gln176His	rs1185953882	missense variant	-	NC_000001.11:g.117623396G>T	gnomAD
TENT5C	Q5VWP2	p.Ser180Gly	rs1431680747	missense variant	-	NC_000001.11:g.117623406A>G	gnomAD
TENT5C	Q5VWP2	p.Val181Ala	rs1239549020	missense variant	-	NC_000001.11:g.117623410T>C	gnomAD
TENT5C	Q5VWP2	p.Phe184Val	rs1379186922	missense variant	-	NC_000001.11:g.117623418T>G	gnomAD
TENT5C	Q5VWP2	p.Ile186Val	rs1277828975	missense variant	-	NC_000001.11:g.117623424A>G	gnomAD
TENT5C	Q5VWP2	p.Ile187Asn	rs754010269	missense variant	-	NC_000001.11:g.117623428T>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ile187Phe	rs766564274	missense variant	-	NC_000001.11:g.117623427A>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ser190Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623437C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Leu191Phe	rs748094673	missense variant	-	NC_000001.11:g.117623441G>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Phe194Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623450C>G	NCI-TCGA
TENT5C	Q5VWP2	p.Tyr195Cys	rs373419973	missense variant	-	NC_000001.11:g.117623452A>G	ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Cys197Arg	rs746800316	missense variant	-	NC_000001.11:g.117623457T>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asn199Ser	rs770804707	missense variant	-	NC_000001.11:g.117623464A>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asn200Ser	rs776457933	missense variant	-	NC_000001.11:g.117623467A>G	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Pro201Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623469C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Pro201Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623470C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Pro201Thr	rs745444038	missense variant	-	NC_000001.11:g.117623469C>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Pro208Arg	rs1310015046	missense variant	-	NC_000001.11:g.117623491C>G	TOPMed
TENT5C	Q5VWP2	p.Thr209Ser	rs775048736	missense variant	-	NC_000001.11:g.117623493A>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ile211Thr	rs773496649	missense variant	-	NC_000001.11:g.117623500T>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ile211Phe	rs1181723324	missense variant	-	NC_000001.11:g.117623499A>T	gnomAD
TENT5C	Q5VWP2	p.Gly212Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623502G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Met215Thr	rs1442073130	missense variant	-	NC_000001.11:g.117623512T>C	gnomAD
TENT5C	Q5VWP2	p.Gly217Arg	rs766689047	missense variant	-	NC_000001.11:g.117623517G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asp218Asn	COSM3471996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623520G>A	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Glu221ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.117623529_117623530insTTGGGGACCACTGGTGTGGC	NCI-TCGA
TENT5C	Q5VWP2	p.Ala222Asp	rs754073638	missense variant	-	NC_000001.11:g.117623533C>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asp224Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623538G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Asp224Glu	rs377384965	missense variant	-	NC_000001.11:g.117623540C>A	ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Gln227Arg	rs1331321666	missense variant	-	NC_000001.11:g.117623548A>G	TOPMed
TENT5C	Q5VWP2	p.Ala232Thr	rs371434677	missense variant	-	NC_000001.11:g.117623562G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Ala232Val	rs752792421	missense variant	-	NC_000001.11:g.117623563C>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ala232Ser	rs371434677	missense variant	-	NC_000001.11:g.117623562G>T	ESP,gnomAD
TENT5C	Q5VWP2	p.Ala232Thr	rs371434677	missense variant	-	NC_000001.11:g.117623562G>A	ESP,gnomAD
TENT5C	Q5VWP2	p.Lys234Asn	rs1337416217	missense variant	-	NC_000001.11:g.117623570G>C	TOPMed
TENT5C	Q5VWP2	p.Asn235Ser	rs1310140275	missense variant	-	NC_000001.11:g.117623572A>G	gnomAD
TENT5C	Q5VWP2	p.Pro236Thr	rs1231378622	missense variant	-	NC_000001.11:g.117623574C>A	gnomAD
TENT5C	Q5VWP2	p.Gly242Glu	rs1198478524	missense variant	-	NC_000001.11:g.117623593G>A	gnomAD
TENT5C	Q5VWP2	p.Gly242Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623592G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Leu244Phe	rs757126681	missense variant	-	NC_000001.11:g.117623598C>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Leu244Val	COSM2156513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623598C>G	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Asn249Ser	rs745570371	missense variant	-	NC_000001.11:g.117623614A>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Leu251Phe	rs769480797	missense variant	-	NC_000001.11:g.117623619C>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Val252Leu	rs915278770	missense variant	-	NC_000001.11:g.117623622G>C	TOPMed
TENT5C	Q5VWP2	p.Arg253Gln	rs779467652	missense variant	-	NC_000001.11:g.117623626G>A	NCI-TCGA,NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Arg253Gln	rs779467652	missense variant	-	NC_000001.11:g.117623626G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg253Trp	rs1379420313	missense variant	-	NC_000001.11:g.117623625C>T	TOPMed
TENT5C	Q5VWP2	p.Asp254Asn	rs1462556539	missense variant	-	NC_000001.11:g.117623628G>A	TOPMed
TENT5C	Q5VWP2	p.Thr258Ile	rs587778306	missense variant	-	NC_000001.11:g.117623641C>T	gnomAD
TENT5C	Q5VWP2	p.Thr258Ile	RCV000120903	missense variant	-	NC_000001.11:g.117623641C>T	ClinVar
TENT5C	Q5VWP2	p.Asp259Tyr	RCV000120906	missense variant	-	NC_000001.11:g.117623643G>T	ClinVar
TENT5C	Q5VWP2	p.Asp259Tyr	rs587778308	missense variant	-	NC_000001.11:g.117623643G>T	-
TENT5C	Q5VWP2	p.Asp259His	COSM3788499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623643G>C	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Glu261Lys	COSM1688388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623649G>A	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Glu262Asp	COSM894532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623654A>C	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Glu262Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.117623652G>T	NCI-TCGA
TENT5C	Q5VWP2	p.Ile263Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623655A>C	NCI-TCGA
TENT5C	Q5VWP2	p.Ile263Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623657C>G	NCI-TCGA
TENT5C	Q5VWP2	p.Lys264Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623659A>G	NCI-TCGA
TENT5C	Q5VWP2	p.Glu267Gln	rs1487005772	missense variant	-	NC_000001.11:g.117623667G>C	gnomAD
TENT5C	Q5VWP2	p.Arg268Cys	rs761103312	missense variant	-	NC_000001.11:g.117623670C>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg268His	rs754072349	missense variant	-	NC_000001.11:g.117623671G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Met270Val	rs1239289962	missense variant	-	NC_000001.11:g.117623676A>G	TOPMed
TENT5C	Q5VWP2	p.Phe274Leu	COSM894533	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623688T>C	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Phe275Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623692T>A	NCI-TCGA
TENT5C	Q5VWP2	p.Ile276ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.117623693_117623694insCCGTTCTTGTTGG	NCI-TCGA
TENT5C	Q5VWP2	p.Pro279Leu	rs778618300	missense variant	-	NC_000001.11:g.117623704C>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ile281Val	RCV000120901	missense variant	-	NC_000001.11:g.117623709A>G	ClinVar
TENT5C	Q5VWP2	p.Ile281Val	rs77871185	missense variant	-	NC_000001.11:g.117623709A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Leu282Val	rs764017740	missense variant	-	NC_000001.11:g.117623712C>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Arg286Lys	rs1219813462	missense variant	-	NC_000001.11:g.117623725G>A	gnomAD
TENT5C	Q5VWP2	p.Leu288Val	rs758092069	missense variant	-	NC_000001.11:g.117623730T>G	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Tyr291Ter	rs764728855	stop gained	-	NC_000001.11:g.117623740dup	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ala297Thr	rs149654076	missense variant	-	NC_000001.11:g.117623757G>A	NCI-TCGA,NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Ala297Pro	rs149654076	missense variant	-	NC_000001.11:g.117623757G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ala297Thr	rs149654076	missense variant	-	NC_000001.11:g.117623757G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ala297Thr	RCV000120907	missense variant	-	NC_000001.11:g.117623757G>A	ClinVar
TENT5C	Q5VWP2	p.Glu299Lys	rs145471785	missense variant	-	NC_000001.11:g.117623763G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Glu299Lys	RCV000120908	missense variant	-	NC_000001.11:g.117623763G>A	ClinVar
TENT5C	Q5VWP2	p.Ser302Asn	rs768215715	missense variant	-	NC_000001.11:g.117623773G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ser302Gly	rs538158859	missense variant	-	NC_000001.11:g.117623772A>G	1000Genomes,ExAC,gnomAD
TENT5C	Q5VWP2	p.Ser302Arg	rs538158859	missense variant	-	NC_000001.11:g.117623772A>C	1000Genomes,ExAC,gnomAD
TENT5C	Q5VWP2	p.Lys303Gln	rs747582052	missense variant	-	NC_000001.11:g.117623775A>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Asp305Asn	rs1391512260	missense variant	-	NC_000001.11:g.117623781G>A	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Met308Ile	rs1312455607	missense variant	-	NC_000001.11:g.117623792G>C	gnomAD
TENT5C	Q5VWP2	p.Met308Thr	rs770016455	missense variant	-	NC_000001.11:g.117623791T>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Met308Leu	rs150740852	missense variant	-	NC_000001.11:g.117623790A>C	ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Met308Val	rs150740852	missense variant	-	NC_000001.11:g.117623790A>G	ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ile309Thr	rs372516345	missense variant	-	NC_000001.11:g.117623794T>C	ESP,TOPMed
TENT5C	Q5VWP2	p.Arg311Cys	rs775789017	missense variant	-	NC_000001.11:g.117623799C>T	NCI-TCGA,NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Arg311Cys	rs775789017	missense variant	-	NC_000001.11:g.117623799C>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Arg312Met	COSM3471998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623803G>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Glu316Lys	rs764287568	missense variant	-	NC_000001.11:g.117623814G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Glu316Lys	rs764287568	missense variant	-	NC_000001.11:g.117623814G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Thr318Ala	rs1215452754	missense variant	-	NC_000001.11:g.117623820A>G	gnomAD
TENT5C	Q5VWP2	p.Val319Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623823G>T	NCI-TCGA
TENT5C	Q5VWP2	p.Val319Met	rs767537718	missense variant	-	NC_000001.11:g.117623823G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Gly323Glu	rs1186956228	missense variant	-	NC_000001.11:g.117623836G>A	gnomAD
TENT5C	Q5VWP2	p.Gly323Glu	rs1186956228	missense variant	-	NC_000001.11:g.117623836G>A	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Arg326Leu	rs755966473	missense variant	-	NC_000001.11:g.117623845G>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Arg326His	rs755966473	missense variant	-	NC_000001.11:g.117623845G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Arg326Cys	rs750335875	missense variant	-	NC_000001.11:g.117623844C>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ile333Phe	rs1281807855	missense variant	-	NC_000001.11:g.117623865A>T	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ser334Phe	COSM3472000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623869C>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Ser334Cys	rs1383000604	missense variant	-	NC_000001.11:g.117623869C>G	TOPMed
TENT5C	Q5VWP2	p.Arg339His	rs753542382	missense variant	-	NC_000001.11:g.117623884G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ala342Val	rs376774297	missense variant	-	NC_000001.11:g.117623893C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Asn345LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.117623903C>-	NCI-TCGA
TENT5C	Q5VWP2	p.Ile346Val	rs930666933	missense variant	-	NC_000001.11:g.117623904A>G	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ile347Leu	rs1238866114	missense variant	-	NC_000001.11:g.117623907A>C	gnomAD
TENT5C	Q5VWP2	p.Ser349Cys	rs747636778	missense variant	-	NC_000001.11:g.117623913A>T	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ser349Asn	rs1355458797	missense variant	-	NC_000001.11:g.117623914G>A	gnomAD
TENT5C	Q5VWP2	p.Asn352Ser	rs757856198	missense variant	-	NC_000001.11:g.117623923A>G	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Val353Ile	rs74114325	missense variant	-	NC_000001.11:g.117623925G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Pro359Leu	rs557599465	missense variant	-	NC_000001.11:g.117623944C>T	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Pro359Leu	rs557599465	missense variant	-	NC_000001.11:g.117623944C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Pro361Leu	rs1354785362	missense variant	-	NC_000001.11:g.117623950C>T	TOPMed
TENT5C	Q5VWP2	p.Pro361Ser	COSM3862351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.117623949C>T	NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Val363Ile	rs773285739	missense variant	-	NC_000001.11:g.117623955G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Val363Ile	rs773285739	missense variant	-	NC_000001.11:g.117623955G>A	NCI-TCGA,NCI-TCGA Cosmic
TENT5C	Q5VWP2	p.Val363Phe	rs773285739	missense variant	-	NC_000001.11:g.117623955G>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Asp365Ala	rs760471278	missense variant	-	NC_000001.11:g.117623962A>C	ExAC
TENT5C	Q5VWP2	p.Asp365Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623961G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Asn367Thr	rs1256168715	missense variant	-	NC_000001.11:g.117623968A>C	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ser369Asn	rs1400295239	missense variant	-	NC_000001.11:g.117623974G>A	gnomAD
TENT5C	Q5VWP2	p.Asn370Lys	rs753546205	missense variant	-	NC_000001.11:g.117623978C>G	ExAC,gnomAD
TENT5C	Q5VWP2	p.Tyr372His	rs754709388	missense variant	-	NC_000001.11:g.117623982T>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Val373Ile	rs752308622	missense variant	-	NC_000001.11:g.117623985G>A	ExAC,gnomAD
TENT5C	Q5VWP2	p.Ala374Val	rs1345951307	missense variant	-	NC_000001.11:g.117623989C>T	TOPMed
TENT5C	Q5VWP2	p.Pro377Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.117623997C>T	NCI-TCGA
TENT5C	Q5VWP2	p.Val378Ile	rs1212041385	missense variant	-	NC_000001.11:g.117624000G>A	gnomAD
TENT5C	Q5VWP2	p.Tyr380Asp	rs746449090	missense variant	-	NC_000001.11:g.117624006T>G	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Tyr380His	rs746449090	missense variant	-	NC_000001.11:g.117624006T>C	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Ser381Arg	rs1185278454	missense variant	-	NC_000001.11:g.117624009A>C	gnomAD
TENT5C	Q5VWP2	p.Gln382His	rs780504872	missense variant	-	NC_000001.11:g.117624014G>C	ExAC,gnomAD
TENT5C	Q5VWP2	p.Tyr384Cys	rs749590706	missense variant	-	NC_000001.11:g.117624019A>G	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Pro385His	rs769091230	missense variant	-	NC_000001.11:g.117624022C>A	ExAC
TENT5C	Q5VWP2	p.Trp387Cys	rs774743199	missense variant	-	NC_000001.11:g.117624029G>C	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Trp387Ter	rs774743199	stop gained	-	NC_000001.11:g.117624029G>A	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Trp387Cys	rs774743199	missense variant	-	NC_000001.11:g.117624029G>T	ExAC,TOPMed,gnomAD
TENT5C	Q5VWP2	p.Trp387Ter	rs774743199	stop gained	-	NC_000001.11:g.117624029G>A	NCI-TCGA
TENT5C	Q5VWP2	p.Pro389Arg	rs1423398747	missense variant	-	NC_000001.11:g.117624034C>G	TOPMed,gnomAD
TENT5C	Q5VWP2	p.Pro389Leu	rs1423398747	missense variant	-	NC_000001.11:g.117624034C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala2Pro	rs757759074	missense variant	-	NC_000001.11:g.54652930G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala2Val	rs372421581	missense variant	-	NC_000001.11:g.54652931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro5Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54652939C>T	NCI-TCGA
MROH7	Q68CQ1	p.Gly6Trp	rs1266117898	missense variant	-	NC_000001.11:g.54652942G>T	gnomAD
MROH7	Q68CQ1	p.Asn8Asp	rs750824933	missense variant	-	NC_000001.11:g.54652948A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu13Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54652965A>C	NCI-TCGA
MROH7	Q68CQ1	p.Glu13Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54652963G>A	NCI-TCGA
MROH7	Q68CQ1	p.Glu13Gly	rs534829796	missense variant	-	NC_000001.11:g.54652964A>G	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp14Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54652966G>T	NCI-TCGA
MROH7	Q68CQ1	p.Asp14His	rs990291011	missense variant	-	NC_000001.11:g.54652966G>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp14Asn	rs990291011	missense variant	-	NC_000001.11:g.54652966G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro15Thr	rs771543965	missense variant	-	NC_000001.11:g.54652969C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro15Ser	rs771543965	missense variant	-	NC_000001.11:g.54652969C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro15Ala	rs771543965	missense variant	-	NC_000001.11:g.54652969C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys16Asn	rs1459939669	missense variant	-	NC_000001.11:g.54652974G>T	gnomAD
MROH7	Q68CQ1	p.Met17Leu	rs777160579	missense variant	-	NC_000001.11:g.54652975A>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Thr18Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54652979C>T	NCI-TCGA
MROH7	Q68CQ1	p.Pro21Thr	rs1315666449	missense variant	-	NC_000001.11:g.54652987C>A	TOPMed
MROH7	Q68CQ1	p.Pro22Arg	rs746954048	missense variant	-	NC_000001.11:g.54652991C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro22His	rs746954048	missense variant	-	NC_000001.11:g.54652991C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser23ProPheSerTerUnk	rs746143056	frameshift	-	NC_000001.11:g.54652987C>-	NCI-TCGA
MROH7	Q68CQ1	p.Ser23LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.54652986_54652987insC	NCI-TCGA
MROH7	Q68CQ1	p.Gly25Glu	rs1414202741	missense variant	-	NC_000001.11:g.54653000G>A	gnomAD
MROH7	Q68CQ1	p.Pro27Leu	rs769736721	missense variant	-	NC_000001.11:g.54653006C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro27Ser	rs1295180098	missense variant	-	NC_000001.11:g.54653005C>T	gnomAD
MROH7	Q68CQ1	p.Gly30Arg	rs763092895	missense variant	-	NC_000001.11:g.54653014G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly30Arg	rs763092895	missense variant	-	NC_000001.11:g.54653014G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser31Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653017T>C	NCI-TCGA
MROH7	Q68CQ1	p.Ser31Cys	rs1353652131	missense variant	-	NC_000001.11:g.54653018C>G	gnomAD
MROH7	Q68CQ1	p.Gly32Asp	rs764217818	missense variant	-	NC_000001.11:g.54653021G>A	ExAC,TOPMed
MROH7	Q68CQ1	p.Thr33Ile	COSM1718221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653024C>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ile34Ser	rs1206330469	missense variant	-	NC_000001.11:g.54653027T>G	gnomAD
MROH7	Q68CQ1	p.Pro35Ala	rs774357268	missense variant	-	NC_000001.11:g.54653029C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro35Ser	rs774357268	missense variant	-	NC_000001.11:g.54653029C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln36Ter	rs762348183	stop gained	-	NC_000001.11:g.54653032C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro37Leu	rs1426952467	missense variant	-	NC_000001.11:g.54653036C>T	TOPMed
MROH7	Q68CQ1	p.Pro37Ser	rs768059001	missense variant	-	NC_000001.11:g.54653035C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.His38Pro	rs1425881394	missense variant	-	NC_000001.11:g.54653039A>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.His38Asp	rs1246595752	missense variant	-	NC_000001.11:g.54653038C>G	gnomAD
MROH7	Q68CQ1	p.Pro39Leu	rs756427950	missense variant	-	NC_000001.11:g.54653042C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro39Thr	rs750949750	missense variant	-	NC_000001.11:g.54653041C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Asp40Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653044G>T	NCI-TCGA
MROH7	Q68CQ1	p.Asp40Glu	rs1161548342	missense variant	-	NC_000001.11:g.54653046C>A	gnomAD
MROH7	Q68CQ1	p.Met41Val	rs371212227	missense variant	-	NC_000001.11:g.54653047A>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met41Ile	rs758045075	missense variant	-	NC_000001.11:g.54653049G>A	ExAC
MROH7	Q68CQ1	p.Met41Arg	rs752336439	missense variant	-	NC_000001.11:g.54653048T>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala42Thr	COSM3490878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653050G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ala42Asp	rs1318731839	missense variant	-	NC_000001.11:g.54653051C>A	gnomAD
MROH7	Q68CQ1	p.Ala42Val	rs1318731839	missense variant	-	NC_000001.11:g.54653051C>T	gnomAD
MROH7	Q68CQ1	p.Gln43Pro	rs1443320391	missense variant	-	NC_000001.11:g.54653054A>C	TOPMed
MROH7	Q68CQ1	p.Gln43His	rs777333204	missense variant	-	NC_000001.11:g.54653055G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Val44Ala	rs547740508	missense variant	-	NC_000001.11:g.54653057T>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met46Ile	rs781230144	missense variant	-	NC_000001.11:g.54653064G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Met46Val	rs1038809482	missense variant	-	NC_000001.11:g.54653062A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu50Ile	rs1402091659	missense variant	-	NC_000001.11:g.54653074C>A	gnomAD
MROH7	Q68CQ1	p.Pro51Ala	rs1268261811	missense variant	-	NC_000001.11:g.54653077C>G	gnomAD
MROH7	Q68CQ1	p.Pro51Leu	rs769649902	missense variant	-	NC_000001.11:g.54653078C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser52Arg	rs1484449877	missense variant	-	NC_000001.11:g.54653082T>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser52Gly	rs374996813	missense variant	-	NC_000001.11:g.54653080A>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly54Cys	rs1201444129	missense variant	-	NC_000001.11:g.54653086G>T	gnomAD
MROH7	Q68CQ1	p.Leu55Trp	rs1422625194	missense variant	-	NC_000001.11:g.54653090T>G	gnomAD
MROH7	Q68CQ1	p.Ala56Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653092G>A	NCI-TCGA
MROH7	Q68CQ1	p.Leu57Val	rs577982847	missense variant	-	NC_000001.11:g.54653095C>G	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Val58Phe	rs761828972	missense variant	-	NC_000001.11:g.54653098G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val58Ile	rs761828972	missense variant	-	NC_000001.11:g.54653098G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp60Ala	COSM3985147	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653105A>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Leu61Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653108T>G	NCI-TCGA
MROH7	Q68CQ1	p.Leu61Pro	rs376881648	missense variant	-	NC_000001.11:g.54653108T>C	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp63Asn	rs1302119234	missense variant	-	NC_000001.11:g.54653113G>A	gnomAD
MROH7	Q68CQ1	p.Ser64Cys	rs150191046	missense variant	-	NC_000001.11:g.54653117C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser64Tyr	COSM1343514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653117C>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ser64Phe	rs150191046	missense variant	-	NC_000001.11:g.54653117C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu65Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653121G>C	NCI-TCGA
MROH7	Q68CQ1	p.Ser66Gly	rs754223717	missense variant	-	NC_000001.11:g.54653122A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro67Ser	rs758037622	missense variant	-	NC_000001.11:g.54653125C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser69Ter	COSM4820465	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54653132C>G	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gly74Asp	rs756790243	missense variant	-	NC_000001.11:g.54653147G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Val76Leu	rs1255822119	missense variant	-	NC_000001.11:g.54653152G>C	gnomAD
MROH7	Q68CQ1	p.Glu78Gly	rs192479874	missense variant	-	NC_000001.11:g.54653159A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu78Ala	rs192479874	missense variant	-	NC_000001.11:g.54653159A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr80Ala	rs756183210	missense variant	-	NC_000001.11:g.54653164A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr80Ser	rs779864108	missense variant	-	NC_000001.11:g.54653165C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro81Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653168C>T	NCI-TCGA
MROH7	Q68CQ1	p.Arg82Ser	rs749083568	missense variant	-	NC_000001.11:g.54653172A>T	ExAC
MROH7	Q68CQ1	p.Asp84Glu	rs748424041	missense variant	-	NC_000001.11:g.54653178T>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Asp85Glu	rs1427353483	missense variant	-	NC_000001.11:g.54653181C>G	gnomAD
MROH7	Q68CQ1	p.Arg87Thr	COSM4822643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653186G>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ala88Thr	rs138958132	missense variant	-	NC_000001.11:g.54653188G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro91Leu	rs369773156	missense variant	-	NC_000001.11:g.54653198C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro91Ser	rs1431327811	missense variant	-	NC_000001.11:g.54653197C>T	gnomAD
MROH7	Q68CQ1	p.Ala92Pro	rs1490566770	missense variant	-	NC_000001.11:g.54653200G>C	TOPMed
MROH7	Q68CQ1	p.Ser93Tyr	rs771382138	missense variant	-	NC_000001.11:g.54653204C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln95His	rs377717151	missense variant	-	NC_000001.11:g.54653211G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile96Val	rs981667870	missense variant	-	NC_000001.11:g.54653212A>G	TOPMed
MROH7	Q68CQ1	p.Ile96Asn	rs1224214821	missense variant	-	NC_000001.11:g.54653213T>A	TOPMed
MROH7	Q68CQ1	p.Thr97Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653215A>G	NCI-TCGA
MROH7	Q68CQ1	p.Ser98Ile	rs951015500	missense variant	-	NC_000001.11:g.54653219G>T	gnomAD
MROH7	Q68CQ1	p.Ser99Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653222C>T	NCI-TCGA
MROH7	Q68CQ1	p.Cys100Trp	rs1478147462	missense variant	-	NC_000001.11:g.54653226T>G	gnomAD
MROH7	Q68CQ1	p.Ser101Pro	rs765668531	missense variant	-	NC_000001.11:g.54653227T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser101Phe	rs1342162428	missense variant	-	NC_000001.11:g.54653228C>T	gnomAD
MROH7	Q68CQ1	p.Gly102Asp	rs751192948	missense variant	-	NC_000001.11:g.54653231G>A	ExAC
MROH7	Q68CQ1	p.Gly102Ser	rs1203003121	missense variant	-	NC_000001.11:g.54653230G>A	gnomAD
MROH7	Q68CQ1	p.Asp106Tyr	rs370342214	missense variant	-	NC_000001.11:g.54653242G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp106Asn	rs370342214	missense variant	-	NC_000001.11:g.54653242G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp108Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653250T>A	NCI-TCGA
MROH7	Q68CQ1	p.Lys110Arg	rs749990498	missense variant	-	NC_000001.11:g.54653255A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp111Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653258A>C	NCI-TCGA
MROH7	Q68CQ1	p.Asp111Glu	rs756094958	missense variant	-	NC_000001.11:g.54653259T>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Val112Asp	rs779805295	missense variant	-	NC_000001.11:g.54653261T>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val112Ala	rs779805295	missense variant	-	NC_000001.11:g.54653261T>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val112Ile	rs1055091560	missense variant	-	NC_000001.11:g.54653260G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro115Ser	rs1403519826	missense variant	-	NC_000001.11:g.54653269C>T	TOPMed
MROH7	Q68CQ1	p.Asp116Asn	COSM1296591	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653272G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gly119Glu	rs754661318	missense variant	-	NC_000001.11:g.54653282G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly119Ala	rs754661318	missense variant	-	NC_000001.11:g.54653282G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg120Cys	rs373089784	missense variant	-	NC_000001.11:g.54653284C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg120Ser	rs373089784	missense variant	-	NC_000001.11:g.54653284C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg120Leu	rs531104510	missense variant	-	NC_000001.11:g.54653285G>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg120His	rs531104510	missense variant	-	NC_000001.11:g.54653285G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu121Pro	rs1366990908	missense variant	-	NC_000001.11:g.54653288T>C	gnomAD
MROH7	Q68CQ1	p.Cys122Arg	rs1435362199	missense variant	-	NC_000001.11:g.54653290T>C	gnomAD
MROH7	Q68CQ1	p.Cys122Ser	rs1298858065	missense variant	-	NC_000001.11:g.54653291G>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro123Leu	rs184477025	missense variant	-	NC_000001.11:g.54653294C>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala124Gly	rs771067754	missense variant	-	NC_000001.11:g.54653297C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ile128Thr	rs201689263	missense variant	-	NC_000001.11:g.54653309T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro131Ser	rs1053493689	missense variant	-	NC_000001.11:g.54653317C>T	gnomAD
MROH7	Q68CQ1	p.Ser133Pro	rs769997976	missense variant	-	NC_000001.11:g.54653323T>C	ExAC,TOPMed
MROH7	Q68CQ1	p.Glu135Lys	rs776059628	missense variant	-	NC_000001.11:g.54653329G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala136Val	rs530118000	missense variant	-	NC_000001.11:g.54653333C>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala136Asp	rs530118000	missense variant	-	NC_000001.11:g.54653333C>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg138Cys	rs370379031	missense variant	-	NC_000001.11:g.54653338C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg138His	rs750119628	missense variant	-	NC_000001.11:g.54653339G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg138Gly	rs370379031	missense variant	-	NC_000001.11:g.54653338C>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly142Arg	COSM3490887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653350G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Pro145Ser	rs1183530984	missense variant	-	NC_000001.11:g.54653359C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln146Arg	rs760060392	missense variant	-	NC_000001.11:g.54653363A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser147Ter	rs765916521	stop gained	-	NC_000001.11:g.54653366C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn148Asp	rs1364592447	missense variant	-	NC_000001.11:g.54653368A>G	TOPMed
MROH7	Q68CQ1	p.Ser149Cys	rs1162170909	missense variant	-	NC_000001.11:g.54653372C>G	gnomAD
MROH7	Q68CQ1	p.Glu150Gly	rs1457492950	missense variant	-	NC_000001.11:g.54653375A>G	gnomAD
MROH7	Q68CQ1	p.Ala152Thr	rs1011622435	missense variant	-	NC_000001.11:g.54653380G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala152Val	rs778567344	missense variant	-	NC_000001.11:g.54653381C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala152Gly	rs778567344	missense variant	-	NC_000001.11:g.54653381C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala152Ser	rs1011622435	missense variant	-	NC_000001.11:g.54653380G>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Phe153Leu	rs368503437	missense variant	-	NC_000001.11:g.54653385C>A	ESP,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys154Gln	rs752529386	missense variant	-	NC_000001.11:g.54653386A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Cys155Ser	rs758597398	missense variant	-	NC_000001.11:g.54653389T>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser157Leu	rs1331262608	missense variant	-	NC_000001.11:g.54653396C>T	gnomAD
MROH7	Q68CQ1	p.Ser158Gly	rs777924560	missense variant	-	NC_000001.11:g.54653398A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys159Asn	rs747264454	missense variant	-	NC_000001.11:g.54653403G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys162Gln	rs1023048326	missense variant	-	NC_000001.11:g.54653410A>C	TOPMed
MROH7	Q68CQ1	p.Lys162Arg	rs970158617	missense variant	-	NC_000001.11:g.54653411A>G	gnomAD
MROH7	Q68CQ1	p.Leu163PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.54653412_54653413insT	NCI-TCGA
MROH7	Q68CQ1	p.Gly164Val	rs1212046975	missense variant	-	NC_000001.11:g.54653417G>T	gnomAD
MROH7	Q68CQ1	p.Gly164Asp	rs1212046975	missense variant	-	NC_000001.11:g.54653417G>A	gnomAD
MROH7	Q68CQ1	p.His173Tyr	rs757219968	missense variant	-	NC_000001.11:g.54653443C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.His173Arg	rs1472451801	missense variant	-	NC_000001.11:g.54653444A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn176Ile	rs1207618668	missense variant	-	NC_000001.11:g.54653453A>T	gnomAD
MROH7	Q68CQ1	p.Phe178Leu	rs1411862161	missense variant	-	NC_000001.11:g.54653458T>C	TOPMed
MROH7	Q68CQ1	p.Ile179Val	rs781348564	missense variant	-	NC_000001.11:g.54653461A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile179Leu	rs781348564	missense variant	-	NC_000001.11:g.54653461A>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg180Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653465G>C	NCI-TCGA
MROH7	Q68CQ1	p.Arg180Lys	rs1472592380	missense variant	-	NC_000001.11:g.54653465G>A	gnomAD
MROH7	Q68CQ1	p.His181Tyr	rs746351821	missense variant	-	NC_000001.11:g.54653467C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.His182Tyr	rs566978822	missense variant	-	NC_000001.11:g.54653470C>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His182Arg	rs11206407	missense variant	-	NC_000001.11:g.54653471A>G	UniProt,dbSNP
MROH7	Q68CQ1	p.His182Arg	VAR_032218	missense variant	-	NC_000001.11:g.54653471A>G	UniProt
MROH7	Q68CQ1	p.His182Arg	rs11206407	missense variant	-	NC_000001.11:g.54653471A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His182Asn	rs566978822	missense variant	-	NC_000001.11:g.54653470C>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser183Tyr	VAR_035495	Missense	-	-	UniProt
MROH7	Q68CQ1	p.Glu185Asp	rs749616801	missense variant	-	NC_000001.11:g.54653481A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu185Lys	rs1336600740	missense variant	-	NC_000001.11:g.54653479G>A	gnomAD
MROH7	Q68CQ1	p.Gly186Asp	rs551587041	missense variant	-	NC_000001.11:g.54653483G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly186Val	rs551587041	missense variant	-	NC_000001.11:g.54653483G>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly190Cys	COSM6063675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653494G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.His191Arg	rs1451846802	missense variant	-	NC_000001.11:g.54653498A>G	gnomAD
MROH7	Q68CQ1	p.Cys192Ser	rs1461386578	missense variant	-	NC_000001.11:g.54653501G>C	TOPMed
MROH7	Q68CQ1	p.Pro196Thr	rs189830889	missense variant	-	NC_000001.11:g.54653512C>A	1000Genomes
MROH7	Q68CQ1	p.Ser197Asn	rs1287798057	missense variant	-	NC_000001.11:g.54653516G>A	gnomAD
MROH7	Q68CQ1	p.Ala200Ser	COSM910898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653524G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Leu202Phe	rs759359574	missense variant	-	NC_000001.11:g.54653530C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ile203Phe	rs557223559	missense variant	-	NC_000001.11:g.54653533A>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro204Ser	COSM4903028	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653536C>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ser206Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653543C>T	NCI-TCGA
MROH7	Q68CQ1	p.Asn207His	rs1441587855	missense variant	-	NC_000001.11:g.54653545A>C	gnomAD
MROH7	Q68CQ1	p.Ser209Phe	rs1308873626	missense variant	-	NC_000001.11:g.54653552C>T	TOPMed
MROH7	Q68CQ1	p.Leu212Pro	rs752654128	missense variant	-	NC_000001.11:g.54653561T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro216Ser	rs1180908192	missense variant	-	NC_000001.11:g.54653572C>T	gnomAD
MROH7	Q68CQ1	p.Leu217Trp	rs1361524559	missense variant	-	NC_000001.11:g.54653576T>G	gnomAD
MROH7	Q68CQ1	p.Leu218Pro	rs1172751421	missense variant	-	NC_000001.11:g.54653579T>C	gnomAD
MROH7	Q68CQ1	p.Met220Ile	rs763883117	missense variant	-	NC_000001.11:g.54653586G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Arg223Ile	rs757560960	missense variant	-	NC_000001.11:g.54653594G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg223Lys	rs757560960	missense variant	-	NC_000001.11:g.54653594G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr225Asn	rs781131796	missense variant	-	NC_000001.11:g.54653600C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser226Pro	rs746004881	missense variant	-	NC_000001.11:g.54653602T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys227Thr	rs759361319	missense variant	-	NC_000001.11:g.54653606A>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys227Arg	rs759361319	missense variant	-	NC_000001.11:g.54653606A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn229Asp	rs1334037317	missense variant	-	NC_000001.11:g.54653611A>G	gnomAD
MROH7	Q68CQ1	p.Asn231Ser	rs775510052	missense variant	-	NC_000001.11:g.54653618A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val232Ile	rs752480808	missense variant	-	NC_000001.11:g.54653620G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala233Asp	rs774912695	missense variant	-	NC_000001.11:g.54653624C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala233Ser	rs1276503573	missense variant	-	NC_000001.11:g.54653623G>T	gnomAD
MROH7	Q68CQ1	p.Ala233Val	rs774912695	missense variant	-	NC_000001.11:g.54653624C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro234Leu	rs1042482500	missense variant	-	NC_000001.11:g.54653627C>T	TOPMed
MROH7	Q68CQ1	p.Ser236Tyr	COSM259765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653633C>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.His237Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653635C>T	NCI-TCGA
MROH7	Q68CQ1	p.His237Arg	rs1409156990	missense variant	-	NC_000001.11:g.54653636A>G	TOPMed
MROH7	Q68CQ1	p.Gly238Arg	rs1388022922	missense variant	-	NC_000001.11:g.54653638G>A	TOPMed
MROH7	Q68CQ1	p.Thr239Ile	rs746636147	missense variant	-	NC_000001.11:g.54653642C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu240Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653644C>A	NCI-TCGA
MROH7	Q68CQ1	p.Leu240Arg	rs775981890	missense variant	-	NC_000001.11:g.54653645T>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro242Ser	rs759039314	missense variant	-	NC_000001.11:g.54653650C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Asp243Gly	rs935204366	missense variant	-	NC_000001.11:g.54653654A>G	gnomAD
MROH7	Q68CQ1	p.Asp243Ala	rs935204366	missense variant	-	NC_000001.11:g.54653654A>C	gnomAD
MROH7	Q68CQ1	p.Asp243Glu	rs1392384494	missense variant	-	NC_000001.11:g.54653655C>A	gnomAD
MROH7	Q68CQ1	p.Asn245Asp	rs1481307616	missense variant	-	NC_000001.11:g.54653659A>G	TOPMed
MROH7	Q68CQ1	p.Asn245Lys	rs186245353	missense variant	-	NC_000001.11:g.54653661T>A	1000Genomes
MROH7	Q68CQ1	p.Glu246Lys	rs1233105795	missense variant	-	NC_000001.11:g.54653662G>A	TOPMed
MROH7	Q68CQ1	p.Thr247Ser	rs1431005744	missense variant	-	NC_000001.11:g.54653666C>G	gnomAD
MROH7	Q68CQ1	p.Thr249Ile	rs1203310441	missense variant	-	NC_000001.11:g.54653672C>T	TOPMed
MROH7	Q68CQ1	p.His253Pro	rs762893974	missense variant	-	NC_000001.11:g.54653684A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn254Thr	rs1324261088	missense variant	-	NC_000001.11:g.54653687A>C	gnomAD
MROH7	Q68CQ1	p.Asn254Ser	rs1324261088	missense variant	-	NC_000001.11:g.54653687A>G	gnomAD
MROH7	Q68CQ1	p.Ile255Val	rs902566824	missense variant	-	NC_000001.11:g.54653689A>G	TOPMed
MROH7	Q68CQ1	p.Glu257Lys	rs1438980271	missense variant	-	NC_000001.11:g.54653695G>A	gnomAD
MROH7	Q68CQ1	p.Ser258Tyr	rs763866792	missense variant	-	NC_000001.11:g.54653699C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Val259Ala	rs371335941	missense variant	-	NC_000001.11:g.54653702T>C	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val259Asp	rs371335941	missense variant	-	NC_000001.11:g.54653702T>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser260Ter	rs757394504	stop gained	-	NC_000001.11:g.54653705C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys261Ile	rs767726192	missense variant	-	NC_000001.11:g.54653708A>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly262Glu	rs118026373	missense variant	-	NC_000001.11:g.54653711G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly262Ter	rs1357874499	stop gained	-	NC_000001.11:g.54653710G>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala263Pro	rs374661840	missense variant	-	NC_000001.11:g.54653713G>C	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala263Asp	rs1040843153	missense variant	-	NC_000001.11:g.54653714C>A	TOPMed
MROH7	Q68CQ1	p.Ser265Ile	rs1466910190	missense variant	-	NC_000001.11:g.54653720G>T	gnomAD
MROH7	Q68CQ1	p.Thr267Ala	COSM910900	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653725A>G	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Thr267Ile	rs1190093452	missense variant	-	NC_000001.11:g.54653726C>T	gnomAD
MROH7	Q68CQ1	p.Ser271Asn	rs754381660	missense variant	-	NC_000001.11:g.54653738G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser271Gly	rs199971430	missense variant	-	NC_000001.11:g.54653737A>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu274Lys	COSM3865814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653746G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Thr275Ala	rs755608420	missense variant	-	NC_000001.11:g.54653749A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Met276Val	rs779115128	missense variant	-	NC_000001.11:g.54653752A>G	ExAC
MROH7	Q68CQ1	p.Met276Arg	rs371849728	missense variant	-	NC_000001.11:g.54653753T>G	ESP,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn277Ser	rs1044440310	missense variant	-	NC_000001.11:g.54653756A>G	TOPMed
MROH7	Q68CQ1	p.Val278Gly	rs748594977	missense variant	-	NC_000001.11:g.54653759T>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala279Val	rs1393816486	missense variant	-	NC_000001.11:g.54653762C>T	gnomAD
MROH7	Q68CQ1	p.Ser280Thr	rs1049411858	missense variant	-	NC_000001.11:g.54653764T>A	TOPMed
MROH7	Q68CQ1	p.Gly282Ser	rs780858526	missense variant	-	NC_000001.11:g.54653770G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser284Pro	rs1389149027	missense variant	-	NC_000001.11:g.54653776T>C	gnomAD
MROH7	Q68CQ1	p.Ser286Tyr	rs745512395	missense variant	-	NC_000001.11:g.54653783C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Val290Met	rs12094920	missense variant	-	NC_000001.11:g.54653794G>A	UniProt,dbSNP
MROH7	Q68CQ1	p.Val290Met	VAR_032219	missense variant	-	NC_000001.11:g.54653794G>A	UniProt
MROH7	Q68CQ1	p.Val290Met	rs12094920	missense variant	-	NC_000001.11:g.54653794G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr291Ala	rs1481851764	missense variant	-	NC_000001.11:g.54653797A>G	TOPMed
MROH7	Q68CQ1	p.Gln294Glu	rs1004127482	missense variant	-	NC_000001.11:g.54653806C>G	TOPMed
MROH7	Q68CQ1	p.Ala295Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653810C>T	NCI-TCGA
MROH7	Q68CQ1	p.Ala295Thr	rs1283149934	missense variant	-	NC_000001.11:g.54653809G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser296Leu	rs768623864	missense variant	-	NC_000001.11:g.54653813C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Tyr297His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653815T>C	NCI-TCGA
MROH7	Q68CQ1	p.Val298Met	rs761625169	missense variant	-	NC_000001.11:g.54653818G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu300Gln	rs369752978	missense variant	-	NC_000001.11:g.54653825T>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro302Leu	rs750597464	missense variant	-	NC_000001.11:g.54653831C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro302Arg	rs750597464	missense variant	-	NC_000001.11:g.54653831C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly303Cys	rs761033550	missense variant	-	NC_000001.11:g.54653833G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser304Pro	rs766561728	missense variant	-	NC_000001.11:g.54653836T>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser305Gly	rs1347648096	missense variant	-	NC_000001.11:g.54653839A>G	TOPMed
MROH7	Q68CQ1	p.Ser305Cys	rs1347648096	missense variant	-	NC_000001.11:g.54653839A>T	TOPMed
MROH7	Q68CQ1	p.Tyr306Cys	rs753176266	missense variant	-	NC_000001.11:g.54653843A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Tyr306Asp	rs1655519	missense variant	-	NC_000001.11:g.54653842T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Tyr306Asn	rs1655519	missense variant	-	NC_000001.11:g.54653842T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His311Tyr	rs540601071	missense variant	-	NC_000001.11:g.54653857C>T	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.His311Arg	rs1345313660	missense variant	-	NC_000001.11:g.54653858A>G	TOPMed
MROH7	Q68CQ1	p.Ser312Phe	rs17399810	missense variant	-	NC_000001.11:g.54653861C>T	UniProt,dbSNP
MROH7	Q68CQ1	p.Ser312Phe	VAR_032221	missense variant	-	NC_000001.11:g.54653861C>T	UniProt
MROH7	Q68CQ1	p.Ser312Phe	rs17399810	missense variant	-	NC_000001.11:g.54653861C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr314Ser	rs745509518	missense variant	-	NC_000001.11:g.54653866A>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr314Ile	rs1199609451	missense variant	-	NC_000001.11:g.54653867C>T	TOPMed
MROH7	Q68CQ1	p.His315Gln	rs1265684904	missense variant	-	NC_000001.11:g.54653871T>A	TOPMed
MROH7	Q68CQ1	p.Glu316Lys	rs1396547891	missense variant	-	NC_000001.11:g.54653872G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu316Gly	rs1655518	missense variant	-	NC_000001.11:g.54653873A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu316Val	rs1655518	missense variant	-	NC_000001.11:g.54653873A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn318Ile	rs138481816	missense variant	-	NC_000001.11:g.54653879A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn318Ser	rs138481816	missense variant	-	NC_000001.11:g.54653879A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn318Lys	rs923723755	missense variant	-	NC_000001.11:g.54653880C>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile321Asn	rs1316040809	missense variant	-	NC_000001.11:g.54653888T>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser322Phe	rs1259351043	missense variant	-	NC_000001.11:g.54653891C>T	gnomAD
MROH7	Q68CQ1	p.Pro323Gln	rs200138099	missense variant	-	NC_000001.11:g.54653894C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro323Leu	rs200138099	missense variant	-	NC_000001.11:g.54653894C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Cys326Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653902T>C	NCI-TCGA
MROH7	Q68CQ1	p.Cys326Ser	rs1455190747	missense variant	-	NC_000001.11:g.54653903G>C	TOPMed
MROH7	Q68CQ1	p.Met327Leu	rs761666523	missense variant	-	NC_000001.11:g.54653905A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Met327Ile	COSM3790140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653907G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Leu329Val	rs1184487509	missense variant	-	NC_000001.11:g.54653911C>G	gnomAD
MROH7	Q68CQ1	p.Ile330Met	rs1407579955	missense variant	-	NC_000001.11:g.54653916C>G	TOPMed
MROH7	Q68CQ1	p.Gly332Asp	rs771885366	missense variant	-	NC_000001.11:g.54653921G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly332Arg	rs1252620252	missense variant	-	NC_000001.11:g.54653920G>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser333Ala	rs989341129	missense variant	-	NC_000001.11:g.54653923T>G	gnomAD
MROH7	Q68CQ1	p.Asn334Ser	rs1157116119	missense variant	-	NC_000001.11:g.54653927A>G	gnomAD
MROH7	Q68CQ1	p.Thr336Ser	rs772946079	missense variant	-	NC_000001.11:g.54653932A>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Thr336Ile	rs760947113	missense variant	-	NC_000001.11:g.54653933C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu337Arg	rs1376323151	missense variant	-	NC_000001.11:g.54653936T>G	TOPMed
MROH7	Q68CQ1	p.Ser338Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653938A>T	NCI-TCGA
MROH7	Q68CQ1	p.Leu339Pro	rs1411586321	missense variant	-	NC_000001.11:g.54653942T>C	gnomAD
MROH7	Q68CQ1	p.Asp340Asn	rs374146862	missense variant	-	NC_000001.11:g.54653944G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp340Ala	rs759648722	missense variant	-	NC_000001.11:g.54653945A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser342Asn	rs1429444519	missense variant	-	NC_000001.11:g.54653951G>A	TOPMed
MROH7	Q68CQ1	p.Leu343Phe	rs1261649977	missense variant	-	NC_000001.11:g.54653953C>T	TOPMed
MROH7	Q68CQ1	p.Phe345Leu	COSM6126894	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653961C>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Phe345Tyr	rs753191225	missense variant	-	NC_000001.11:g.54653960T>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Asp347Asn	rs764518252	missense variant	-	NC_000001.11:g.54653965G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Thr348Ile	rs755744764	missense variant	-	NC_000001.11:g.54653969C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Thr348Asn	rs755744764	missense variant	-	NC_000001.11:g.54653969C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Thr348Ala	rs751964538	missense variant	-	NC_000001.11:g.54653968A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr352Met	rs12074499	missense variant	-	NC_000001.11:g.54653981C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr352Met	rs12074499	missense variant	-	NC_000001.11:g.54653981C>T	UniProt,dbSNP
MROH7	Q68CQ1	p.Thr352Met	VAR_032223	missense variant	-	NC_000001.11:g.54653981C>T	UniProt
MROH7	Q68CQ1	p.Thr352Ala	rs1269670116	missense variant	-	NC_000001.11:g.54653980A>G	gnomAD
MROH7	Q68CQ1	p.Ser354Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54653987G>A	NCI-TCGA
MROH7	Q68CQ1	p.Ser354Ile	rs754450065	missense variant	-	NC_000001.11:g.54653987G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser354Arg	rs778342437	missense variant	-	NC_000001.11:g.54653988C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser355Arg	rs367822729	missense variant	-	NC_000001.11:g.54653989A>C	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln356His	rs1353447885	missense variant	-	NC_000001.11:g.54653994G>T	gnomAD
MROH7	Q68CQ1	p.Gln357His	rs371225882	missense variant	-	NC_000001.11:g.54653997G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Asp358Asn	COSM3490902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54653998G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Asp358Tyr	rs1294751097	missense variant	-	NC_000001.11:g.54653998G>T	gnomAD
MROH7	Q68CQ1	p.Asp359Gly	rs773117743	missense variant	-	NC_000001.11:g.54654002A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys361Ter	COSM4930692	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54654007A>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Asp362Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54654010G>A	NCI-TCGA
MROH7	Q68CQ1	p.Asn363Ser	rs959513335	missense variant	-	NC_000001.11:g.54654014A>G	TOPMed
MROH7	Q68CQ1	p.Ile365Met	rs1231258852	missense variant	-	NC_000001.11:g.54654021C>G	gnomAD
MROH7	Q68CQ1	p.Ile365Thr	rs202100410	missense variant	-	NC_000001.11:g.54654020T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His366Tyr	rs367906695	missense variant	-	NC_000001.11:g.54654022C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr367Ala	rs1307012265	missense variant	-	NC_000001.11:g.54654025A>G	gnomAD
MROH7	Q68CQ1	p.Val368Met	rs1399655591	missense variant	-	NC_000001.11:g.54654028G>A	TOPMed
MROH7	Q68CQ1	p.Val368Ala	rs189525766	missense variant	-	NC_000001.11:g.54654029T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro369Ser	rs775501526	missense variant	-	NC_000001.11:g.54654031C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn373Lys	rs1028575265	missense variant	-	NC_000001.11:g.54654045T>A	TOPMed
MROH7	Q68CQ1	p.Ser378Thr	rs752071197	missense variant	-	NC_000001.11:g.54654059G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Met380Val	rs1189169195	missense variant	-	NC_000001.11:g.54654064A>G	gnomAD
MROH7	Q68CQ1	p.Ala381Ser	rs757582113	missense variant	-	NC_000001.11:g.54654067G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala381Thr	rs757582113	missense variant	-	NC_000001.11:g.54654067G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser382Thr	rs376981288	missense variant	-	NC_000001.11:g.54654071G>C	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys384Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54654077A>T	NCI-TCGA
MROH7	Q68CQ1	p.Val385Glu	rs1030736244	missense variant	-	NC_000001.11:g.54654080T>A	TOPMed
MROH7	Q68CQ1	p.Gly386Ser	rs1460605836	missense variant	-	NC_000001.11:g.54654082G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly386Asp	rs369544447	missense variant	-	NC_000001.11:g.54654083G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln387His	rs372956550	missense variant	-	NC_000001.11:g.54654087G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro389Ala	rs1392776293	missense variant	-	NC_000001.11:g.54654091C>G	gnomAD
MROH7	Q68CQ1	p.Pro389Leu	rs747670420	missense variant	-	NC_000001.11:g.54654092C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro393Ser	rs770800441	missense variant	-	NC_000001.11:g.54654103C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ile394Val	rs776615355	missense variant	-	NC_000001.11:g.54654106A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn396Lys	rs201471334	missense variant	-	NC_000001.11:g.54654114C>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro397Ser	rs775623305	missense variant	-	NC_000001.11:g.54654115C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro397Thr	rs775623305	missense variant	-	NC_000001.11:g.54654115C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala398Thr	rs558242326	missense variant	-	NC_000001.11:g.54654118G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala398Ser	rs558242326	missense variant	-	NC_000001.11:g.54654118G>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp401Glu	rs202239855	missense variant	-	NC_000001.11:g.54654129C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp401Asn	COSM3490905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54654127G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ala402Val	rs1330546252	missense variant	-	NC_000001.11:g.54654131C>T	TOPMed
MROH7	Q68CQ1	p.Ala402Thr	rs759215528	missense variant	-	NC_000001.11:g.54654130G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val403Met	rs554894135	missense variant	-	NC_000001.11:g.54654133G>A	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Leu405Met	rs1457411188	missense variant	-	NC_000001.11:g.54654139T>A	gnomAD
MROH7	Q68CQ1	p.Gly407Val	rs1319463889	missense variant	-	NC_000001.11:g.54654146G>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro409Leu	rs867240822	missense variant	-	NC_000001.11:g.54654152C>T	gnomAD
MROH7	Q68CQ1	p.Gly411Arg	rs1356201456	missense variant	-	NC_000001.11:g.54654157G>A	gnomAD
MROH7	Q68CQ1	p.Gly411Glu	rs1161473803	missense variant	-	NC_000001.11:g.54665167G>A	gnomAD
MROH7	Q68CQ1	p.Ala412Gly	rs774157644	missense variant	-	NC_000001.11:g.54665170C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala412Thr	rs1364195267	missense variant	-	NC_000001.11:g.54665169G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala412Asp	rs774157644	missense variant	-	NC_000001.11:g.54665170C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala412Val	rs774157644	missense variant	-	NC_000001.11:g.54665170C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp414Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54665177T>G	NCI-TCGA
MROH7	Q68CQ1	p.Asp414Ala	rs761336036	missense variant	-	NC_000001.11:g.54665176A>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp414Glu	rs1377242859	missense variant	-	NC_000001.11:g.54665177T>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu415Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54665178G>A	NCI-TCGA
MROH7	Q68CQ1	p.Val416Leu	rs767080704	missense variant	-	NC_000001.11:g.54665181G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Val416Gly	rs750310367	missense variant	-	NC_000001.11:g.54665182T>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr417Ser	rs1414970790	missense variant	-	NC_000001.11:g.54665185C>G	TOPMed
MROH7	Q68CQ1	p.Cys419Tyr	COSM910904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54665191G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Cys419Arg	rs1392807325	missense variant	-	NC_000001.11:g.54665190T>C	gnomAD
MROH7	Q68CQ1	p.Val421Glu	rs1238836372	missense variant	-	NC_000001.11:g.54665197T>A	gnomAD
MROH7	Q68CQ1	p.Val421Met	rs1334787260	missense variant	-	NC_000001.11:g.54665196G>A	gnomAD
MROH7	Q68CQ1	p.Glu425Gly	rs756120239	missense variant	-	NC_000001.11:g.54665209A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys426Arg	rs1212154185	missense variant	-	NC_000001.11:g.54665212A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu428Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54665217G>C	NCI-TCGA
MROH7	Q68CQ1	p.Gly429Cys	rs377527312	missense variant	-	NC_000001.11:g.54665220G>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly429Val	rs753726663	missense variant	-	NC_000001.11:g.54665221G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly429Ser	rs377527312	missense variant	-	NC_000001.11:g.54665220G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly430Cys	rs754783332	missense variant	-	NC_000001.11:g.54665223G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn431Lys	rs981255541	missense variant	-	NC_000001.11:g.54665228C>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn432Ser	rs779042812	missense variant	-	NC_000001.11:g.54665230A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Met433Val	rs748401514	missense variant	-	NC_000001.11:g.54665232A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala434Asp	rs1420064529	missense variant	-	NC_000001.11:g.54665236C>A	TOPMed
MROH7	Q68CQ1	p.Leu435Pro	rs758424599	missense variant	-	NC_000001.11:g.54665239T>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu437Lys	rs1296394701	missense variant	-	NC_000001.11:g.54668857G>A	gnomAD
MROH7	Q68CQ1	p.Val439Phe	rs74071881	missense variant	-	NC_000001.11:g.54668863G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr440Ile	rs770230580	missense variant	-	NC_000001.11:g.54668867C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr440Ala	rs368345950	missense variant	-	NC_000001.11:g.54668866A>G	ESP
MROH7	Q68CQ1	p.Gln443His	rs372333293	missense variant	-	NC_000001.11:g.54668877G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser445Asn	rs747802963	missense variant	-	NC_000001.11:g.54668882G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser445Asn	rs747802963	missense variant	-	NC_000001.11:g.54668882G>A	NCI-TCGA,NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gln446His	rs200925719	missense variant	-	NC_000001.11:g.54668886G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln446Glu	rs771817980	missense variant	-	NC_000001.11:g.54668884C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln446Lys	rs771817980	missense variant	-	NC_000001.11:g.54668884C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp447His	rs1418207026	missense variant	-	NC_000001.11:g.54668887G>C	gnomAD
MROH7	Q68CQ1	p.Asp447Asn	rs1418207026	missense variant	-	NC_000001.11:g.54668887G>A	gnomAD
MROH7	Q68CQ1	p.Leu448Gln	rs1319936381	missense variant	-	NC_000001.11:g.54668891T>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly453Arg	rs1418171119	missense variant	-	NC_000001.11:g.54668905G>A	gnomAD
MROH7	Q68CQ1	p.Glu454Gln	rs1460590033	missense variant	-	NC_000001.11:g.54668908G>C	gnomAD
MROH7	Q68CQ1	p.Lys455Arg	rs2304314	missense variant	-	NC_000001.11:g.54668912A>G	UniProt,dbSNP
MROH7	Q68CQ1	p.Lys455Arg	VAR_055042	missense variant	-	NC_000001.11:g.54668912A>G	UniProt
MROH7	Q68CQ1	p.Lys455Arg	rs2304314	missense variant	-	NC_000001.11:g.54668912A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr457Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54668918C>T	NCI-TCGA
MROH7	Q68CQ1	p.Met458Thr	rs1433504949	missense variant	-	NC_000001.11:g.54668921T>C	gnomAD
MROH7	Q68CQ1	p.Lys461Asn	rs759519399	missense variant	-	NC_000001.11:g.54668931G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys461Glu	rs913645500	missense variant	-	NC_000001.11:g.54668929A>G	TOPMed
MROH7	Q68CQ1	p.Lys461Arg	rs776502888	missense variant	-	NC_000001.11:g.54668930A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met463Arg	rs752555664	missense variant	-	NC_000001.11:g.54668936T>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met463Thr	rs752555664	missense variant	-	NC_000001.11:g.54668936T>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg464Gly	rs1377660492	missense variant	-	NC_000001.11:g.54670497A>G	TOPMed
MROH7	Q68CQ1	p.Gln465Leu	rs755323424	missense variant	-	NC_000001.11:g.54670501A>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ile466Thr	rs779195178	missense variant	-	NC_000001.11:g.54670504T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ile466Ser	rs779195178	missense variant	-	NC_000001.11:g.54670504T>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln467Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54670507A>T	NCI-TCGA
MROH7	Q68CQ1	p.Gln467Ter	rs370819683	stop gained	-	NC_000001.11:g.54670506C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu468Asp	rs1370027807	missense variant	-	NC_000001.11:g.54670511G>T	TOPMed
MROH7	Q68CQ1	p.Glu468Gly	rs550028680	missense variant	-	NC_000001.11:g.54670510A>G	1000Genomes,gnomAD
MROH7	Q68CQ1	p.Glu469Lys	rs756969052	missense variant	-	NC_000001.11:g.54670512G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro470Ser	rs139403235	missense variant	-	NC_000001.11:g.54670515C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp472His	rs1459653691	missense variant	-	NC_000001.11:g.54670521G>C	TOPMed
MROH7	Q68CQ1	p.Asp472Glu	rs990554801	missense variant	-	NC_000001.11:g.54670523T>A	TOPMed
MROH7	Q68CQ1	p.Ser473Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54670525C>A	NCI-TCGA
MROH7	Q68CQ1	p.Ser475Leu	rs1198299613	missense variant	-	NC_000001.11:g.54670531C>T	gnomAD
MROH7	Q68CQ1	p.Ser477Cys	rs1274484494	missense variant	-	NC_000001.11:g.54670537C>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Val478Phe	rs775363362	missense variant	-	NC_000001.11:g.54670539G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val478Ile	rs775363362	missense variant	-	NC_000001.11:g.54670539G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg479His	rs1195871386	missense variant	-	NC_000001.11:g.54670543G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg479Leu	rs1195871386	missense variant	-	NC_000001.11:g.54670543G>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg479Cys	rs774050707	missense variant	-	NC_000001.11:g.54670542C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met483Val	rs1477984865	missense variant	-	NC_000001.11:g.54670554A>G	gnomAD
MROH7	Q68CQ1	p.Glu484Asp	rs1265622187	missense variant	-	NC_000001.11:g.54670559G>C	TOPMed
MROH7	Q68CQ1	p.Ile485Thr	rs762085154	missense variant	-	NC_000001.11:g.54670561T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu489Pro	rs1410750286	missense variant	-	NC_000001.11:g.54670573T>C	gnomAD
MROH7	Q68CQ1	p.Thr492Ala	rs766535483	missense variant	-	NC_000001.11:g.54670804A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr492Ser	rs766535483	missense variant	-	NC_000001.11:g.54670804A>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln493His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54670809G>C	NCI-TCGA
MROH7	Q68CQ1	p.Pro494Leu	rs1233453260	missense variant	-	NC_000001.11:g.54670811C>T	gnomAD
MROH7	Q68CQ1	p.Thr495Ile	rs760073833	missense variant	-	NC_000001.11:g.54670814C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Met498Lys	rs765605278	missense variant	-	NC_000001.11:g.54670823T>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Arg499Trp	rs202182199	missense variant	-	NC_000001.11:g.54670825C>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg499Trp	rs202182199	missense variant	-	NC_000001.11:g.54670825C>T	NCI-TCGA
MROH7	Q68CQ1	p.Arg499Gln	rs559657355	missense variant	-	NC_000001.11:g.54670826G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg501Lys	rs532777653	missense variant	-	NC_000001.11:g.54670832G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser502Leu	rs750052987	missense variant	-	NC_000001.11:g.54670835C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu503Ter	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54670837G>T	NCI-TCGA
MROH7	Q68CQ1	p.Glu503Lys	COSM3490908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54670837G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Val507Met	rs754525302	missense variant	-	NC_000001.11:g.54670849G>A	NCI-TCGA
MROH7	Q68CQ1	p.Val507Met	rs754525302	missense variant	-	NC_000001.11:g.54670849G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val507Ala	rs778677903	missense variant	-	NC_000001.11:g.54670850T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Cys508Tyr	rs566542688	missense variant	-	NC_000001.11:g.54670853G>A	TOPMed
MROH7	Q68CQ1	p.Val509Gly	rs480963	missense variant	-	NC_000001.11:g.54670856T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val509Ala	rs480963	missense variant	-	NC_000001.11:g.54670856T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val509Ala	rs480963	missense variant	-	NC_000001.11:g.54670856T>C	UniProt,dbSNP
MROH7	Q68CQ1	p.Val509Ala	VAR_055043	missense variant	-	NC_000001.11:g.54670856T>C	UniProt
MROH7	Q68CQ1	p.His510Gln	rs747231083	missense variant	-	NC_000001.11:g.54670860C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.His510Pro	rs777753698	missense variant	-	NC_000001.11:g.54670859A>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser511Gly	rs1268222335	missense variant	-	NC_000001.11:g.54670861A>G	TOPMed
MROH7	Q68CQ1	p.Val512Leu	rs113626408	missense variant	-	NC_000001.11:g.54670864G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val512Met	rs113626408	missense variant	-	NC_000001.11:g.54670864G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro516Thr	rs769945949	missense variant	-	NC_000001.11:g.54670876C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro516Leu	rs1243118996	missense variant	-	NC_000001.11:g.54670877C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser517Ala	rs775808083	missense variant	-	NC_000001.11:g.54670879T>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser517Phe	rs1352054394	missense variant	-	NC_000001.11:g.54670880C>T	gnomAD
MROH7	Q68CQ1	p.Val518Leu	rs376972881	missense variant	-	NC_000001.11:g.54670882G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val518Met	rs376972881	missense variant	-	NC_000001.11:g.54670882G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val518Ala	rs1416883368	missense variant	-	NC_000001.11:g.54670883T>C	TOPMed
MROH7	Q68CQ1	p.Gln519Ter	rs1486667085	stop gained	-	NC_000001.11:g.54670885C>T	gnomAD
MROH7	Q68CQ1	p.Gln519Arg	rs199550913	missense variant	-	NC_000001.11:g.54670886A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala520Val	rs753562291	missense variant	-	NC_000001.11:g.54670889C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala520Thr	rs373405988	missense variant	-	NC_000001.11:g.54670888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met521Ile	rs1439007664	missense variant	-	NC_000001.11:g.54670893G>T	gnomAD
MROH7	Q68CQ1	p.Gln522Ter	rs1156720085	stop gained	-	NC_000001.11:g.54670894C>T	gnomAD
MROH7	Q68CQ1	p.Glu523Gln	rs977510566	missense variant	-	NC_000001.11:g.54670897G>C	TOPMed
MROH7	Q68CQ1	p.Lys524Asn	rs778535173	missense variant	-	NC_000001.11:g.54670902G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu526Lys	rs777698751	missense variant	-	NC_000001.11:g.54670906G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala527Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54670909G>T	NCI-TCGA
MROH7	Q68CQ1	p.Ala527Val	rs772581552	missense variant	-	NC_000001.11:g.54670910C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala527Gly	rs772581552	missense variant	-	NC_000001.11:g.54670910C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys528Ter	rs1309612729	stop gained	-	NC_000001.11:g.54670912A>T	gnomAD
MROH7	Q68CQ1	p.Lys528Thr	rs770763162	missense variant	-	NC_000001.11:g.54670913A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys528Glu	COSM1343522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54670912A>G	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Thr531Ile	rs1307779169	missense variant	-	NC_000001.11:g.54670922C>T	gnomAD
MROH7	Q68CQ1	p.Gln533Lys	rs746123780	missense variant	-	NC_000001.11:g.54670927C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln533Pro	rs1255477921	missense variant	-	NC_000001.11:g.54670928A>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln533Ter	rs746123780	stop gained	-	NC_000001.11:g.54670927C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala534Val	rs762511023	missense variant	-	NC_000001.11:g.54673092C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln538Glu	COSM6126888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54673103C>G	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Leu540Val	rs751520019	missense variant	-	NC_000001.11:g.54673109C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu541Lys	COSM243334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54673112G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ala542Thr	rs757255939	missense variant	-	NC_000001.11:g.54673115G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln544His	rs992551433	missense variant	-	NC_000001.11:g.54673123G>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu547Pro	rs1274849278	missense variant	-	NC_000001.11:g.54673131T>C	gnomAD
MROH7	Q68CQ1	p.Ile552Asn	rs200088868	missense variant	-	NC_000001.11:g.54673146T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile552Phe	rs780213540	missense variant	-	NC_000001.11:g.54673145A>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu553Ter	rs368337420	stop gained	-	NC_000001.11:g.54673148G>T	ESP,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu553Lys	rs368337420	missense variant	-	NC_000001.11:g.54673148G>A	ESP,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp554Gly	rs1377367591	missense variant	-	NC_000001.11:g.54673152A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp554His	rs748600087	missense variant	-	NC_000001.11:g.54673151G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro555His	rs1420498954	missense variant	-	NC_000001.11:g.54673155C>A	gnomAD
MROH7	Q68CQ1	p.Thr556Pro	rs1311977133	missense variant	-	NC_000001.11:g.54673157A>C	TOPMed
MROH7	Q68CQ1	p.Ala558Val	rs375789961	missense variant	-	NC_000001.11:g.54673164C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser562Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54673175A>T	NCI-TCGA
MROH7	Q68CQ1	p.Ser562Thr	rs202175562	missense variant	-	NC_000001.11:g.54673176G>C	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Ile563Asn	rs1455792231	missense variant	-	NC_000001.11:g.54673179T>A	gnomAD
MROH7	Q68CQ1	p.Leu567Val	rs1236116587	missense variant	-	NC_000001.11:g.54673704C>G	gnomAD
MROH7	Q68CQ1	p.Gly568Arg	rs758413583	missense variant	-	NC_000001.11:g.54673707G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro569Ser	rs1465018271	missense variant	-	NC_000001.11:g.54673710C>T	TOPMed
MROH7	Q68CQ1	p.Met571Lys	rs778301930	missense variant	-	NC_000001.11:g.54673717T>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn572Asp	rs1380296549	missense variant	-	NC_000001.11:g.54673719A>G	gnomAD
MROH7	Q68CQ1	p.Lys575Thr	rs747490465	missense variant	-	NC_000001.11:g.54673729A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala576Pro	rs1425886246	missense variant	-	NC_000001.11:g.54673731G>C	gnomAD
MROH7	Q68CQ1	p.His577Arg	rs986693932	missense variant	-	NC_000001.11:g.54673735A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.His577Leu	rs986693932	missense variant	-	NC_000001.11:g.54673735A>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu578Ter	rs376595601	stop gained	-	NC_000001.11:g.54673737G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu578Lys	rs376595601	missense variant	-	NC_000001.11:g.54673737G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg579Ter	rs200552161	stop gained	-	NC_000001.11:g.54673740C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg579Gln	rs527661535	missense variant	-	NC_000001.11:g.54673741G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala580Val	rs1442937582	missense variant	-	NC_000001.11:g.54673744C>T	gnomAD
MROH7	Q68CQ1	p.Ala580Thr	COSM910910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54673743G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Arg581Pro	rs773181857	missense variant	-	NC_000001.11:g.54673747G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg581Gln	rs773181857	missense variant	-	NC_000001.11:g.54673747G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg581Trp	rs771508636	missense variant	-	NC_000001.11:g.54673746C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val583Ala	rs1194640904	missense variant	-	NC_000001.11:g.54673753T>C	gnomAD
MROH7	Q68CQ1	p.Thr585Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54673758A>C	NCI-TCGA
MROH7	Q68CQ1	p.Val587Leu	rs1237897588	missense variant	-	NC_000001.11:g.54673764G>C	gnomAD
MROH7	Q68CQ1	p.Ser588Thr	rs1456831233	missense variant	-	NC_000001.11:g.54673767T>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser588Phe	rs1438362742	missense variant	-	NC_000001.11:g.54673768C>T	gnomAD
MROH7	Q68CQ1	p.Ser588Pro	rs1456831233	missense variant	-	NC_000001.11:g.54673767T>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu590Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54673775G>C	NCI-TCGA
MROH7	Q68CQ1	p.Asn591Ser	rs752896053	missense variant	-	NC_000001.11:g.54673777A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn591Asp	rs765434846	missense variant	-	NC_000001.11:g.54673776A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn591Ile	rs752896053	missense variant	-	NC_000001.11:g.54673777A>T	ExAC,gnomAD
MROH7	Q68CQ1	p.His592Tyr	rs758454696	missense variant	-	NC_000001.11:g.54673779C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.His592Arg	rs1170859997	missense variant	-	NC_000001.11:g.54673780A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Met593Thr	rs752075032	missense variant	-	NC_000001.11:g.54673783T>C	ExAC
MROH7	Q68CQ1	p.Leu594Phe	rs896630937	missense variant	-	NC_000001.11:g.54673785C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu594Ile	rs896630937	missense variant	-	NC_000001.11:g.54673785C>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr596Ile	rs1399340034	missense variant	-	NC_000001.11:g.54673792C>T	TOPMed
MROH7	Q68CQ1	p.Pro598Leu	rs138838053	missense variant	-	NC_000001.11:g.54673798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Phe599Leu	rs1330419927	missense variant	-	NC_000001.11:g.54673802C>A	gnomAD
MROH7	Q68CQ1	p.Phe600Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54673803T>A	NCI-TCGA
MROH7	Q68CQ1	p.Met601Ile	rs200190307	missense variant	-	NC_000001.11:g.54674018G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met601Leu	rs199630211	missense variant	-	NC_000001.11:g.54674016A>C	1000Genomes
MROH7	Q68CQ1	p.Met601Ile	rs200190307	missense variant	-	NC_000001.11:g.54674018G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu603Ser	rs1024343403	missense variant	-	NC_000001.11:g.54674023T>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Phe605Tyr	rs745852999	missense variant	-	NC_000001.11:g.54674029T>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro606Leu	rs775214622	missense variant	-	NC_000001.11:g.54674032C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro606Ser	rs1471789196	missense variant	-	NC_000001.11:g.54674031C>T	gnomAD
MROH7	Q68CQ1	p.Ala607Val	rs370746724	missense variant	-	NC_000001.11:g.54674035C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly609Arg	COSM3490913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54674040G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gly609Glu	rs556161978	missense variant	-	NC_000001.11:g.54674041G>A	gnomAD
MROH7	Q68CQ1	p.Arg614Lys	rs1478288866	missense variant	-	NC_000001.11:g.54674056G>A	TOPMed
MROH7	Q68CQ1	p.Leu615Phe	rs756649665	missense variant	-	NC_000001.11:g.54674058C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu615Ile	rs756649665	missense variant	-	NC_000001.11:g.54674058C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile616Met	rs1196095761	missense variant	-	NC_000001.11:g.54674063C>G	TOPMed
MROH7	Q68CQ1	p.His618Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54674069C>A	NCI-TCGA
MROH7	Q68CQ1	p.His618Arg	rs570218	missense variant	-	NC_000001.11:g.54674068A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His618Arg	rs570218	missense variant	-	NC_000001.11:g.54674068A>G	UniProt,dbSNP
MROH7	Q68CQ1	p.His618Arg	VAR_055044	missense variant	-	NC_000001.11:g.54674068A>G	UniProt
MROH7	Q68CQ1	p.His618Leu	rs570218	missense variant	-	NC_000001.11:g.54674068A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His618Tyr	rs766757461	missense variant	-	NC_000001.11:g.54674067C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile619Asn	rs755376344	missense variant	-	NC_000001.11:g.54674071T>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile619Thr	rs755376344	missense variant	-	NC_000001.11:g.54674071T>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly620Glu	rs777366408	missense variant	-	NC_000001.11:g.54674074G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Asp621Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54674076G>A	NCI-TCGA
MROH7	Q68CQ1	p.Asp621Glu	rs1484363127	missense variant	-	NC_000001.11:g.54674078T>A	gnomAD
MROH7	Q68CQ1	p.Pro622Ser	rs1201212930	missense variant	-	NC_000001.11:g.54674079C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp623Val	rs775705383	missense variant	-	NC_000001.11:g.54674083A>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu624Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54674085G>A	NCI-TCGA
MROH7	Q68CQ1	p.Ile626Leu	rs756736011	missense variant	-	NC_000001.11:g.54674091A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ile626Thr	rs371322078	missense variant	-	NC_000001.11:g.54674092T>C	ESP,TOPMed
MROH7	Q68CQ1	p.Gly627Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54674094G>T	NCI-TCGA
MROH7	Q68CQ1	p.Gly627Asp	rs1180247034	missense variant	-	NC_000001.11:g.54674095G>A	gnomAD
MROH7	Q68CQ1	p.Gly627Arg	rs1456849016	missense variant	-	NC_000001.11:g.54674094G>C	gnomAD
MROH7	Q68CQ1	p.Cys628Tyr	rs1238785893	missense variant	-	NC_000001.11:g.54674098G>A	gnomAD
MROH7	Q68CQ1	p.Ala630Thr	rs1401909756	missense variant	-	NC_000001.11:g.54674103G>A	TOPMed
MROH7	Q68CQ1	p.Asp632Tyr	rs780720038	missense variant	-	NC_000001.11:g.54674109G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Asp632Asn	COSM3790143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54674109G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gly633Ser	rs367682357	missense variant	-	NC_000001.11:g.54674112G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile634Val	rs1418029604	missense variant	-	NC_000001.11:g.54674115A>G	TOPMed
MROH7	Q68CQ1	p.Ile635Met	rs1466259701	missense variant	-	NC_000001.11:g.54674120C>G	gnomAD
MROH7	Q68CQ1	p.Tyr638Cys	rs775506952	missense variant	-	NC_000001.11:g.54674128A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ile640Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54674135T>G	NCI-TCGA
MROH7	Q68CQ1	p.Ile640Val	rs1399582214	missense variant	-	NC_000001.11:g.54674133A>G	gnomAD
MROH7	Q68CQ1	p.Leu641Val	rs1343235149	missense variant	-	NC_000001.11:g.54674136C>G	TOPMed
MROH7	Q68CQ1	p.Glu642Asp	rs768524223	missense variant	-	NC_000001.11:g.54674141G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu643Ile	rs1378310960	missense variant	-	NC_000001.11:g.54674142C>A	gnomAD
MROH7	Q68CQ1	p.Lys645Arg	rs774374349	missense variant	-	NC_000001.11:g.54674149A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg646Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54678742G>T	NCI-TCGA
MROH7	Q68CQ1	p.Arg646Ter	rs555351574	stop gained	-	NC_000001.11:g.54674151C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu651Lys	COSM3490922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54678756G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Glu651Gly	rs779661794	missense variant	-	NC_000001.11:g.54678757A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Thr653Ile	rs753717399	missense variant	-	NC_000001.11:g.54678763C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn654Lys	rs779011706	missense variant	-	NC_000001.11:g.54678767C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys656ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.54678768A>-	NCI-TCGA
MROH7	Q68CQ1	p.Lys656Asn	rs772024815	missense variant	-	NC_000001.11:g.54678773G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu657Asp	rs777810091	missense variant	-	NC_000001.11:g.54678776G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu658Arg	rs747306038	missense variant	-	NC_000001.11:g.54678778T>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Tyr659Cys	rs763140643	missense variant	-	NC_000001.11:g.54678781A>G	gnomAD
MROH7	Q68CQ1	p.Ser661Gly	rs529793273	missense variant	-	NC_000001.11:g.54678786A>G	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Ser661Asn	rs1335103228	missense variant	-	NC_000001.11:g.54678787G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser661Arg	rs1288988343	missense variant	-	NC_000001.11:g.54678788C>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser661Arg	rs1288988343	missense variant	-	NC_000001.11:g.54678788C>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn662Ser	rs776835788	missense variant	-	NC_000001.11:g.54678790A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn662Thr	rs776835788	missense variant	-	NC_000001.11:g.54678790A>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys663Arg	rs75269200	missense variant	-	NC_000001.11:g.54678793A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His664Tyr	rs201099211	missense variant	-	NC_000001.11:g.54678795C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Phe665Leu	rs775976584	missense variant	-	NC_000001.11:g.54678800C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly667Trp	COSM681729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54678804G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gly667Glu	rs904774966	missense variant	-	NC_000001.11:g.54678805G>A	TOPMed
MROH7	Q68CQ1	p.Pro668Leu	rs1183285150	missense variant	-	NC_000001.11:g.54678808C>T	TOPMed
MROH7	Q68CQ1	p.Asn670Asp	rs764464094	missense variant	-	NC_000001.11:g.54678813A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro671Ser	rs1055453406	missense variant	-	NC_000001.11:g.54678816C>T	TOPMed
MROH7	Q68CQ1	p.Pro671Thr	rs1055453406	missense variant	-	NC_000001.11:g.54678816C>A	TOPMed
MROH7	Q68CQ1	p.Val672Leu	rs1164629965	missense variant	-	NC_000001.11:g.54678819G>T	gnomAD
MROH7	Q68CQ1	p.Ser673Asn	rs772715902	missense variant	-	NC_000001.11:g.54678823G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro674Leu	rs760445567	missense variant	-	NC_000001.11:g.54678826C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Cys675Tyr	rs753332143	missense variant	-	NC_000001.11:g.54678829G>A	ExAC
MROH7	Q68CQ1	p.Gln676Arg	rs202143021	missense variant	-	NC_000001.11:g.54678832A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg680Trp	rs765231121	missense variant	-	NC_000001.11:g.54678843C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg680Gln	rs752707727	missense variant	-	NC_000001.11:g.54678844G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg680Pro	rs752707727	missense variant	-	NC_000001.11:g.54678844G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val681Met	rs368926450	missense variant	-	NC_000001.11:g.54678846G>A	ESP,TOPMed
MROH7	Q68CQ1	p.Glu683Lys	rs186975837	missense variant	-	NC_000001.11:g.54678852G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly686Arg	rs1466093480	missense variant	-	NC_000001.11:g.54679269G>A	gnomAD
MROH7	Q68CQ1	p.Asp687Glu	rs1333874193	missense variant	-	NC_000001.11:g.54679274C>A	gnomAD
MROH7	Q68CQ1	p.Leu689Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54679278C>A	NCI-TCGA
MROH7	Q68CQ1	p.Gly690Arg	rs572167241	missense variant	-	NC_000001.11:g.54679281G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly690Glu	rs769149773	missense variant	-	NC_000001.11:g.54679282G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly690Arg	rs572167241	missense variant	-	NC_000001.11:g.54679281G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro691Ser	rs758315810	missense variant	-	NC_000001.11:g.54679284C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln693His	rs748505314	missense variant	-	NC_000001.11:g.54679292G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ile694Val	rs1326603685	missense variant	-	NC_000001.11:g.54679293A>G	TOPMed
MROH7	Q68CQ1	p.Ile694Lys	rs1281798333	missense variant	-	NC_000001.11:g.54679294T>A	gnomAD
MROH7	Q68CQ1	p.Ile694Met	rs181242692	missense variant	-	NC_000001.11:g.54679295A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys695Asn	rs1199632049	missense variant	-	NC_000001.11:g.54679298G>C	gnomAD
MROH7	Q68CQ1	p.Asp696Gly	rs994787042	missense variant	-	NC_000001.11:g.54679300A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu698Pro	rs1223885896	missense variant	-	NC_000001.11:g.54679306T>C	gnomAD
MROH7	Q68CQ1	p.Ala700Asp	rs1047074994	missense variant	-	NC_000001.11:g.54679312C>A	TOPMed
MROH7	Q68CQ1	p.Ala701Val	rs557365728	missense variant	-	NC_000001.11:g.54679315C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala701Ser	rs554316180	missense variant	-	NC_000001.11:g.54679314G>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala701Thr	rs554316180	missense variant	-	NC_000001.11:g.54679314G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu702Pro	rs1213709168	missense variant	-	NC_000001.11:g.54679318T>C	TOPMed
MROH7	Q68CQ1	p.Glu703Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54679320G>C	NCI-TCGA
MROH7	Q68CQ1	p.Gly704Glu	COSM3490925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679324G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gly704Arg	COSM4534693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679323G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Leu705Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54679326C>A	NCI-TCGA
MROH7	Q68CQ1	p.Lys706Arg	rs1167101290	missense variant	-	NC_000001.11:g.54679330A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys706Ile	rs1167101290	missense variant	-	NC_000001.11:g.54679330A>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro712Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54679347C>T	NCI-TCGA
MROH7	Q68CQ1	p.Gly713Glu	rs764022496	missense variant	-	NC_000001.11:g.54679351G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser716Phe	rs751478709	missense variant	-	NC_000001.11:g.54679360C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser716Cys	rs751478709	missense variant	-	NC_000001.11:g.54679360C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu718Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54679365G>A	NCI-TCGA
MROH7	Q68CQ1	p.Met719Leu	rs767264779	missense variant	-	NC_000001.11:g.54679368A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Met720Val	rs1402529777	missense variant	-	NC_000001.11:g.54679371A>G	gnomAD
MROH7	Q68CQ1	p.Gln721Pro	rs201599846	missense variant	-	NC_000001.11:g.54679375A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser724Pro	rs969916738	missense variant	-	NC_000001.11:g.54679383T>C	TOPMed
MROH7	Q68CQ1	p.Ser724Leu	rs756393110	missense variant	-	NC_000001.11:g.54679384C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu725Lys	rs1369931123	missense variant	-	NC_000001.11:g.54679386G>A	TOPMed
MROH7	Q68CQ1	p.Glu725Gly	rs1338019280	missense variant	-	NC_000001.11:g.54679387A>G	gnomAD
MROH7	Q68CQ1	p.Leu728Phe	rs1230482553	missense variant	-	NC_000001.11:g.54679395C>T	gnomAD
MROH7	Q68CQ1	p.Ser729Gly	rs1490222173	missense variant	-	NC_000001.11:g.54679398A>G	gnomAD
MROH7	Q68CQ1	p.Ser729Thr	rs202104458	missense variant	-	NC_000001.11:g.54679399G>C	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser730Leu	rs1265703772	missense variant	-	NC_000001.11:g.54679402C>T	gnomAD
MROH7	Q68CQ1	p.Val731Glu	rs1192220696	missense variant	-	NC_000001.11:g.54679405T>A	gnomAD
MROH7	Q68CQ1	p.Glu733Lys	rs748657269	missense variant	-	NC_000001.11:g.54679410G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Trp734Ter	rs772455635	stop gained	-	NC_000001.11:g.54679415G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Trp734Gly	rs1392365375	missense variant	-	NC_000001.11:g.54679413T>G	TOPMed
MROH7	Q68CQ1	p.Tyr735Cys	rs1163821234	missense variant	-	NC_000001.11:g.54679417A>G	gnomAD
MROH7	Q68CQ1	p.Tyr735Ter	rs778351863	stop gained	-	NC_000001.11:g.54679418C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Arg736His	rs374825894	missense variant	-	NC_000001.11:g.54679420G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg736Ser	rs967441341	missense variant	-	NC_000001.11:g.54679419C>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg736Leu	COSM1320985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679420G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Arg736Cys	rs967441341	missense variant	-	NC_000001.11:g.54679419C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.His737Tyr	rs769510476	missense variant	-	NC_000001.11:g.54679422C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.His737Pro	rs1381233771	missense variant	-	NC_000001.11:g.54679423A>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg738Lys	COSM3865817	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679426G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Arg738Gly	rs1325004231	missense variant	-	NC_000001.11:g.54679425A>G	gnomAD
MROH7	Q68CQ1	p.Ala739Val	rs367971995	missense variant	-	NC_000001.11:g.54679429C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu740Pro	rs774323354	missense variant	-	NC_000001.11:g.54679432T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Met747Thr	rs764652973	missense variant	-	NC_000001.11:g.54679904T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly749Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54679910G>A	NCI-TCGA
MROH7	Q68CQ1	p.Ile750Thr	rs1397829869	missense variant	-	NC_000001.11:g.54679913T>C	gnomAD
MROH7	Q68CQ1	p.Met752Val	rs1390950895	missense variant	-	NC_000001.11:g.54679918A>G	gnomAD
MROH7	Q68CQ1	p.Met752Ile	rs1304888855	missense variant	-	NC_000001.11:g.54679920G>T	gnomAD
MROH7	Q68CQ1	p.Ile757Met	rs757670480	missense variant	-	NC_000001.11:g.54679935C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln758Leu	rs1282417864	missense variant	-	NC_000001.11:g.54679937A>T	gnomAD
MROH7	Q68CQ1	p.Glu759Asp	rs1321213170	missense variant	-	NC_000001.11:g.54679941G>T	gnomAD
MROH7	Q68CQ1	p.Arg761Pro	rs148550771	missense variant	-	NC_000001.11:g.54679946G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg761Trp	rs781718343	missense variant	-	NC_000001.11:g.54679945C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg761Gln	rs148550771	missense variant	-	NC_000001.11:g.54679946G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg763His	rs201540608	missense variant	-	NC_000001.11:g.54679952G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg763Leu	rs201540608	missense variant	-	NC_000001.11:g.54679952G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg763Cys	rs778639426	missense variant	-	NC_000001.11:g.54679951C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln764His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54679956G>T	NCI-TCGA
MROH7	Q68CQ1	p.Gln764Ter	rs773112818	stop gained	-	NC_000001.11:g.54679954C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val765Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54679957G>A	NCI-TCGA
MROH7	Q68CQ1	p.Val770Ile	rs372822211	missense variant	-	NC_000001.11:g.54679972G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val770Phe	COSM6063671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679972G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ser771Thr	rs759391730	missense variant	-	NC_000001.11:g.54679975T>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu772SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.54679976C>-	NCI-TCGA
MROH7	Q68CQ1	p.Ser776Phe	COSM681727	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54679991C>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Met778Val	rs763073015	missense variant	-	NC_000001.11:g.54679996A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr779Ile	rs764315415	missense variant	-	NC_000001.11:g.54680000C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu780Lys	rs370688091	missense variant	-	NC_000001.11:g.54680002G>A	ESP,ExAC,gnomAD
MROH7	Q68CQ1	p.Glu780Gln	rs370688091	missense variant	-	NC_000001.11:g.54680002G>C	ESP,ExAC,gnomAD
MROH7	Q68CQ1	p.Val782Met	rs756534894	missense variant	-	NC_000001.11:g.54680008G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Met787Val	rs752396376	missense variant	-	NC_000001.11:g.54680023A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Met787Ile	rs757874181	missense variant	-	NC_000001.11:g.54680025G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Cys788Trp	rs777334011	missense variant	-	NC_000001.11:g.54680028C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro789Ala	rs546413383	missense variant	-	NC_000001.11:g.54680029C>G	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu790Phe	rs1196303555	missense variant	-	NC_000001.11:g.54680032C>T	gnomAD
MROH7	Q68CQ1	p.Leu792Val	rs373549113	missense variant	-	NC_000001.11:g.54680038C>G	ESP,ExAC,gnomAD
MROH7	Q68CQ1	p.Asn793Lys	rs1156324383	missense variant	-	NC_000001.11:g.54680043C>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn795Ser	rs756820109	missense variant	-	NC_000001.11:g.54682658A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly796Arg	COSM3490931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54682660G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Trp800Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54682673G>C	NCI-TCGA
MROH7	Q68CQ1	p.Gln802Leu	rs1005938377	missense variant	-	NC_000001.11:g.54682679A>T	TOPMed
MROH7	Q68CQ1	p.Leu805Pro	rs745862413	missense variant	-	NC_000001.11:g.54682688T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys807Glu	rs769440483	missense variant	-	NC_000001.11:g.54682693A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro808Arg	rs749507381	missense variant	-	NC_000001.11:g.54682697C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro808Thr	rs779964575	missense variant	-	NC_000001.11:g.54682696C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Cys810Ser	COSM6063668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54682703G>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Cys810Gly	COSM3490934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54682702T>G	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Asp811Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54682705G>A	NCI-TCGA
MROH7	Q68CQ1	p.Asp811Val	rs768939976	missense variant	-	NC_000001.11:g.54682706A>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg813Gln	rs774718278	missense variant	-	NC_000001.11:g.54682712G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg813Ter	rs1016470409	stop gained	-	NC_000001.11:g.54682711C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu815Arg	rs761936782	missense variant	-	NC_000001.11:g.54682718T>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp817Ala	rs772245121	missense variant	-	NC_000001.11:g.54682724A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser822Arg	rs761312398	missense variant	-	NC_000001.11:g.54682740C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys824Met	rs1388886429	missense variant	-	NC_000001.11:g.54682745A>T	TOPMed
MROH7	Q68CQ1	p.Glu825Asp	COSM910922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54682749G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Lys826Asn	rs776927090	missense variant	-	NC_000001.11:g.54682752G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val828Ile	rs367669775	missense variant	-	NC_000001.11:g.54682756G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys830Asn	rs1179644926	missense variant	-	NC_000001.11:g.54682764G>C	TOPMed
MROH7	Q68CQ1	p.Lys830Arg	rs1407545543	missense variant	-	NC_000001.11:g.54682763A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys830Glu	rs200139547	missense variant	-	NC_000001.11:g.54682762A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu831Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54682765G>A	NCI-TCGA
MROH7	Q68CQ1	p.Arg833Gln	rs370806223	missense variant	-	NC_000001.11:g.54682772G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg833Trp	rs750318969	missense variant	-	NC_000001.11:g.54682771C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala834Val	rs1406477426	missense variant	-	NC_000001.11:g.54682775C>T	gnomAD
MROH7	Q68CQ1	p.Val837Met	rs1334652008	missense variant	-	NC_000001.11:g.54682783G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro838Ser	rs368360289	missense variant	-	NC_000001.11:g.54682786C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro838Thr	rs368360289	missense variant	-	NC_000001.11:g.54682786C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro838Leu	rs1442381698	missense variant	-	NC_000001.11:g.54682787C>T	gnomAD
MROH7	Q68CQ1	p.Ala840Val	rs772042102	missense variant	-	NC_000001.11:g.54682793C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala840Glu	rs772042102	missense variant	-	NC_000001.11:g.54682793C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser843Gly	rs747075101	missense variant	-	NC_000001.11:g.54686264A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly844Val	rs746410473	missense variant	-	NC_000001.11:g.54686268G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly844Ser	rs777096703	missense variant	-	NC_000001.11:g.54686267G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu845Pro	rs1426081270	missense variant	-	NC_000001.11:g.54686271T>C	gnomAD
MROH7	Q68CQ1	p.Glu847Gln	rs775977299	missense variant	-	NC_000001.11:g.54686276G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu847Lys	rs775977299	missense variant	-	NC_000001.11:g.54686276G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu849Pro	rs1392078555	missense variant	-	NC_000001.11:g.54686283T>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Val851Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54686289T>G	NCI-TCGA
MROH7	Q68CQ1	p.Val851Ile	rs201626732	missense variant	-	NC_000001.11:g.54686288G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser853Asn	COSM3865826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54686295G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Cys854Tyr	rs772770905	missense variant	-	NC_000001.11:g.54686298G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met855Thr	rs201138513	missense variant	-	NC_000001.11:g.54686301T>C	1000Genomes,gnomAD
MROH7	Q68CQ1	p.Met855Ile	rs760182086	missense variant	-	NC_000001.11:g.54686302G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg857His	rs368938972	missense variant	-	NC_000001.11:g.54686307G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg857Gly	rs375083581	missense variant	-	NC_000001.11:g.54686306C>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg857Leu	rs368938972	missense variant	-	NC_000001.11:g.54686307G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg857Cys	rs375083581	missense variant	-	NC_000001.11:g.54686306C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val858Leu	rs759607443	missense variant	-	NC_000001.11:g.54686309G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Val858Ala	rs1211381869	missense variant	-	NC_000001.11:g.54686310T>C	TOPMed
MROH7	Q68CQ1	p.Arg859Lys	rs76724096	missense variant	-	NC_000001.11:g.54686313G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg860His	rs374919113	missense variant	-	NC_000001.11:g.54686316G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg860Cys	rs752473438	missense variant	-	NC_000001.11:g.54686315C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile861Val	rs778007565	missense variant	-	NC_000001.11:g.54686318A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Tyr862Ser	rs757291963	missense variant	-	NC_000001.11:g.54686322A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Tyr862Cys	rs757291963	missense variant	-	NC_000001.11:g.54686322A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Tyr862His	rs201167904	missense variant	-	NC_000001.11:g.54686321T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro863Leu	rs1288442457	missense variant	-	NC_000001.11:g.54686325C>T	TOPMed
MROH7	Q68CQ1	p.Gln864His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54686329G>T	NCI-TCGA
MROH7	Q68CQ1	p.Ala868Val	rs1401708550	missense variant	-	NC_000001.11:g.54686340C>T	gnomAD
MROH7	Q68CQ1	p.Leu869Pro	rs770226786	missense variant	-	NC_000001.11:g.54686343T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu869Arg	rs770226786	missense variant	-	NC_000001.11:g.54686343T>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu870Phe	rs1334500317	missense variant	-	NC_000001.11:g.54686345C>T	TOPMed
MROH7	Q68CQ1	p.Gln872Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54686352A>G	NCI-TCGA
MROH7	Q68CQ1	p.Gln872Pro	rs760470973	missense variant	-	NC_000001.11:g.54686352A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln872Ter	rs772890691	stop gained	-	NC_000001.11:g.54686351C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val873Leu	rs770553481	missense variant	-	NC_000001.11:g.54686354G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val873Phe	rs770553481	missense variant	-	NC_000001.11:g.54686354G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val873Ile	rs770553481	missense variant	-	NC_000001.11:g.54686354G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His874Arg	rs1281558909	missense variant	-	NC_000001.11:g.54686358A>G	gnomAD
MROH7	Q68CQ1	p.Tyr875His	rs537434639	missense variant	-	NC_000001.11:g.54686360T>C	1000Genomes
MROH7	Q68CQ1	p.Tyr875Phe	rs1459037851	missense variant	-	NC_000001.11:g.54686361A>T	TOPMed
MROH7	Q68CQ1	p.His876Tyr	rs1351659824	missense variant	-	NC_000001.11:g.54686363C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.His876Leu	rs776225658	missense variant	-	NC_000001.11:g.54686364A>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His876Asn	rs1351659824	missense variant	-	NC_000001.11:g.54686363C>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile877Phe	rs370978346	missense variant	-	NC_000001.11:g.54686366A>T	ESP,TOPMed
MROH7	Q68CQ1	p.Gly878Ser	rs568121328	missense variant	-	NC_000001.11:g.54686369G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu879Ile	rs762789848	missense variant	-	NC_000001.11:g.54686372C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu879Phe	rs762789848	missense variant	-	NC_000001.11:g.54686372C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn880Lys	rs545100293	missense variant	-	NC_000001.11:g.54686377C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Asn880Ser	rs528026149	missense variant	-	NC_000001.11:g.54686376A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu881Pro	rs920969649	missense variant	-	NC_000001.11:g.54686379T>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Cys884Ser	rs781402459	missense variant	-	NC_000001.11:g.54686387T>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Val885Met	rs371005007	missense variant	-	NC_000001.11:g.54686390G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala886Thr	rs1330756620	missense variant	-	NC_000001.11:g.54686393G>A	TOPMed
MROH7	Q68CQ1	p.Pro887Thr	rs1338009659	missense variant	-	NC_000001.11:g.54686396C>A	gnomAD
MROH7	Q68CQ1	p.Pro888Thr	rs1268438382	missense variant	-	NC_000001.11:g.54686399C>A	TOPMed
MROH7	Q68CQ1	p.Lys889Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54686404G>T	NCI-TCGA
MROH7	Q68CQ1	p.Lys889Met	rs1394424480	missense variant	-	NC_000001.11:g.54686403A>T	gnomAD
MROH7	Q68CQ1	p.Asp890Asn	rs1222672829	missense variant	-	NC_000001.11:g.54686405G>A	TOPMed
MROH7	Q68CQ1	p.Lys893Asn	rs373903273	missense variant	-	NC_000001.11:g.54686416G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala895Ser	rs1336585771	missense variant	-	NC_000001.11:g.54686420G>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala895Thr	rs1336585771	missense variant	-	NC_000001.11:g.54686420G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln896Glu	rs1238538263	missense variant	-	NC_000001.11:g.54686423C>G	gnomAD
MROH7	Q68CQ1	p.Pro897Ser	rs1286656000	missense variant	-	NC_000001.11:g.54686426C>T	gnomAD
MROH7	Q68CQ1	p.Pro897Ala	rs1286656000	missense variant	-	NC_000001.11:g.54686426C>G	gnomAD
MROH7	Q68CQ1	p.Ser898Phe	rs1437816228	missense variant	-	NC_000001.11:g.54686430C>T	TOPMed
MROH7	Q68CQ1	p.Pro899Ser	COSM3490943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54686432C>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Val901Ala	rs776457719	missense variant	-	NC_000001.11:g.54686439T>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val901Leu	COSM1343526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54686438G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Val901Ile	rs770642996	missense variant	-	NC_000001.11:g.54686438G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro902Ser	rs1197038001	missense variant	-	NC_000001.11:g.54686441C>T	gnomAD
MROH7	Q68CQ1	p.Pro902Leu	rs745325878	missense variant	-	NC_000001.11:g.54686442C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Val903Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54686444G>C	NCI-TCGA
MROH7	Q68CQ1	p.Arg904Ser	rs776173828	missense variant	-	NC_000001.11:g.54686447C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg904His	rs762860440	missense variant	-	NC_000001.11:g.54686448G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg904Cys	rs776173828	missense variant	-	NC_000001.11:g.54686447C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Trp905Cys	rs768408191	missense variant	-	NC_000001.11:g.54692427G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Val906Leu	COSM6126879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54692428G>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Val906Met	rs774302483	missense variant	-	NC_000001.11:g.54692428G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr912Ile	rs538253628	missense variant	-	NC_000001.11:g.54692447C>T	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Thr912Asn	rs538253628	missense variant	-	NC_000001.11:g.54692447C>A	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Leu915Pro	rs964668720	missense variant	-	NC_000001.11:g.54692456T>C	TOPMed
MROH7	Q68CQ1	p.Met917Thr	rs773391407	missense variant	-	NC_000001.11:g.54692462T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly918Ser	rs975781765	missense variant	-	NC_000001.11:g.54692464G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Cys919Phe	rs760864895	missense variant	-	NC_000001.11:g.54692468G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu922Asp	COSM910926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54692478G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Glu922Val	rs1210064879	missense variant	-	NC_000001.11:g.54692477A>T	TOPMed
MROH7	Q68CQ1	p.Thr923Ile	rs766638802	missense variant	-	NC_000001.11:g.54692480C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr924Met	rs755118892	missense variant	-	NC_000001.11:g.54692483C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Phe925Leu	rs753310419	missense variant	-	NC_000001.11:g.54692485T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu927Ter	COSM6063665	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54692491G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Asp928Asn	rs758808395	missense variant	-	NC_000001.11:g.54692494G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp928Tyr	rs758808395	missense variant	-	NC_000001.11:g.54692494G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp928Glu	rs778345436	missense variant	-	NC_000001.11:g.54692496C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly930Arg	rs893910743	missense variant	-	NC_000001.11:g.54692500G>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly930Asp	rs568935952	missense variant	-	NC_000001.11:g.54692501G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly930Ser	rs893910743	missense variant	-	NC_000001.11:g.54692500G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly931Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54692504G>C	NCI-TCGA
MROH7	Q68CQ1	p.Gly931Ser	rs537957753	missense variant	-	NC_000001.11:g.54692503G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu933Lys	rs779758027	missense variant	-	NC_000001.11:g.54692509G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Leu934Arg	rs748704715	missense variant	-	NC_000001.11:g.54692513T>G	ExAC
MROH7	Q68CQ1	p.Leu934Phe	rs1188642737	missense variant	-	NC_000001.11:g.54692512C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Met935Ile	rs1455610200	missense variant	-	NC_000001.11:g.54692517G>A	TOPMed
MROH7	Q68CQ1	p.Met935Val	rs768233703	missense variant	-	NC_000001.11:g.54692515A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Met935Thr	COSM426487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54692516T>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.His942Gln	rs748123333	missense variant	-	NC_000001.11:g.54692538C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg943Cys	rs771841626	missense variant	-	NC_000001.11:g.54692539C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg943His	rs772933221	missense variant	-	NC_000001.11:g.54692540G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg943Leu	rs772933221	missense variant	-	NC_000001.11:g.54692540G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly944Glu	COSM3490949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54692543G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gly944Arg	rs544132487	missense variant	-	NC_000001.11:g.54692542G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val945Leu	rs540861616	missense variant	-	NC_000001.11:g.54692545G>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala949Thr	rs577466388	missense variant	-	NC_000001.11:g.54692557G>A	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Ala949Gly	rs763608015	missense variant	-	NC_000001.11:g.54692558C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala949Ser	rs577466388	missense variant	-	NC_000001.11:g.54692557G>T	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Met952Thr	rs1411499955	missense variant	-	NC_000001.11:g.54695381T>C	gnomAD
MROH7	Q68CQ1	p.Met952Leu	rs1397268057	missense variant	-	NC_000001.11:g.54695380A>C	TOPMed
MROH7	Q68CQ1	p.Met952Val	rs1397268057	missense variant	-	NC_000001.11:g.54695380A>G	TOPMed
MROH7	Q68CQ1	p.Val953Leu	rs754568494	missense variant	-	NC_000001.11:g.54695383G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val953Met	rs754568494	missense variant	-	NC_000001.11:g.54695383G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Cys957Arg	rs752165238	missense variant	-	NC_000001.11:g.54695395T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln958Ter	rs1469189135	stop gained	-	NC_000001.11:g.54695398C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln958Glu	rs1469189135	missense variant	-	NC_000001.11:g.54695398C>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Cys961Tyr	rs565616326	missense variant	-	NC_000001.11:g.54695408G>A	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Arg962His	rs757002867	missense variant	-	NC_000001.11:g.54695411G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg962Cys	rs199865197	missense variant	-	NC_000001.11:g.54695410C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Tyr965Ter	rs1417283710	stop gained	-	NC_000001.11:g.54695421C>G	TOPMed
MROH7	Q68CQ1	p.Tyr965Cys	COSM3490952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54695420A>G	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Leu966ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.54695420_54695421insC	NCI-TCGA
MROH7	Q68CQ1	p.Leu966Met	rs375674756	missense variant	-	NC_000001.11:g.54695422C>A	ESP,ExAC,gnomAD
MROH7	Q68CQ1	p.Leu966Pro	rs770070946	missense variant	-	NC_000001.11:g.54695423T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro969Thr	rs775883799	missense variant	-	NC_000001.11:g.54695431C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro969Leu	rs369706916	missense variant	-	NC_000001.11:g.54695432C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu970Phe	rs774687453	missense variant	-	NC_000001.11:g.54695434C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu972Gln	COSM6126876	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54695440G>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Glu972Asp	rs1269268539	missense variant	-	NC_000001.11:g.54695442G>T	gnomAD
MROH7	Q68CQ1	p.Arg973Ter	rs377441304	stop gained	-	NC_000001.11:g.54695443C>T	ESP,ExAC,gnomAD
MROH7	Q68CQ1	p.Arg973Gln	rs773558683	missense variant	-	NC_000001.11:g.54695444G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly974Asp	rs761060262	missense variant	-	NC_000001.11:g.54695447G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp975Asn	rs752398394	missense variant	-	NC_000001.11:g.54695449G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp975Tyr	rs752398394	missense variant	-	NC_000001.11:g.54695449G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu976Lys	rs200130362	missense variant	-	NC_000001.11:g.54695452G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys977Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54695457G>T	NCI-TCGA
MROH7	Q68CQ1	p.His978Tyr	rs1210651798	missense variant	-	NC_000001.11:g.54695458C>T	TOPMed
MROH7	Q68CQ1	p.Arg979Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54695461A>G	NCI-TCGA
MROH7	Q68CQ1	p.Arg979Lys	rs763729531	missense variant	-	NC_000001.11:g.54695462G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Arg979Ser	rs1346595039	missense variant	-	NC_000001.11:g.54695463G>C	gnomAD
MROH7	Q68CQ1	p.Thr981Ser	rs751441990	missense variant	-	NC_000001.11:g.54695467A>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr981Met	rs201569288	missense variant	-	NC_000001.11:g.54695468C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr981Ala	rs751441990	missense variant	-	NC_000001.11:g.54695467A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala982Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54695470G>A	NCI-TCGA
MROH7	Q68CQ1	p.Thr983Ile	rs1273960821	missense variant	-	NC_000001.11:g.54695474C>T	gnomAD
MROH7	Q68CQ1	p.Ala984Thr	rs780399619	missense variant	-	NC_000001.11:g.54695476G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Phe986Leu	rs749560403	missense variant	-	NC_000001.11:g.54695482T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Val987Met	rs774547766	missense variant	-	NC_000001.11:g.54695485G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu989Val	rs1173259415	missense variant	-	NC_000001.11:g.54700321C>G	gnomAD
MROH7	Q68CQ1	p.Leu990Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54700324C>T	NCI-TCGA
MROH7	Q68CQ1	p.Gln991His	rs750198714	missense variant	-	NC_000001.11:g.54700329G>C	TOPMed
MROH7	Q68CQ1	p.Met992Arg	rs980049650	missense variant	-	NC_000001.11:g.54700331T>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Met992Lys	rs980049650	missense variant	-	NC_000001.11:g.54700331T>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu993Val	rs767653695	missense variant	-	NC_000001.11:g.54700334A>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu993Lys	COSM3490955	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54700333G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gln994Arg	rs925479148	missense variant	-	NC_000001.11:g.54700337A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Val995Ala	rs750930019	missense variant	-	NC_000001.11:g.54700340T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Arg996Leu	rs145665162	missense variant	-	NC_000001.11:g.54700343G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg996Cys	rs139827199	missense variant	-	NC_000001.11:g.54700342C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg996His	rs145665162	missense variant	-	NC_000001.11:g.54700343G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg997Gln	rs540672415	missense variant	-	NC_000001.11:g.54700346G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg997Trp	rs1218730541	missense variant	-	NC_000001.11:g.54700345C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu1000Lys	rs539984944	missense variant	-	NC_000001.11:g.54700354G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu1001Ter	rs577330133	stop gained	-	NC_000001.11:g.54700357G>T	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Arg1006Gln	rs745384704	missense variant	-	NC_000001.11:g.54700373G>A	ExAC,TOPMed
MROH7	Q68CQ1	p.Arg1006Trp	rs368557133	missense variant	-	NC_000001.11:g.54700372C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met1007Val	rs769573965	missense variant	-	NC_000001.11:g.54700375A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Met1007Thr	rs775515297	missense variant	-	NC_000001.11:g.54700376T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu1009Lys	rs1325870582	missense variant	-	NC_000001.11:g.54700381G>A	gnomAD
MROH7	Q68CQ1	p.Glu1009Ala	rs1351011082	missense variant	-	NC_000001.11:g.54700382A>C	gnomAD
MROH7	Q68CQ1	p.Gly1010Val	rs1436332104	missense variant	-	NC_000001.11:g.54700385G>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.His1013Asn	rs371336314	missense variant	-	NC_000001.11:g.54700393C>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His1013Tyr	rs371336314	missense variant	-	NC_000001.11:g.54700393C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His1014Asn	rs1328981713	missense variant	-	NC_000001.11:g.54700396C>A	gnomAD
MROH7	Q68CQ1	p.Asp1015Asn	rs767795784	missense variant	-	NC_000001.11:g.54700399G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp1015His	rs767795784	missense variant	-	NC_000001.11:g.54700399G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp1015Glu	rs760841020	missense variant	-	NC_000001.11:g.54700401C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp1015Gly	rs1229852450	missense variant	-	NC_000001.11:g.54700400A>G	gnomAD
MROH7	Q68CQ1	p.Pro1016Arg	rs1450797271	missense variant	-	NC_000001.11:g.54700403C>G	gnomAD
MROH7	Q68CQ1	p.Pro1016Ser	rs371783540	missense variant	-	NC_000001.11:g.54700402C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ile1017Leu	rs754407459	missense variant	-	NC_000001.11:g.54700405A>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile1017Thr	rs201020637	missense variant	-	NC_000001.11:g.54700406T>C	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met1018Arg	rs1465004423	missense variant	-	NC_000001.11:g.54700409T>G	gnomAD
MROH7	Q68CQ1	p.Leu1021Val	rs549374085	missense variant	-	NC_000001.11:g.54700417C>G	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Ser1022Tyr	rs756900295	missense variant	-	NC_000001.11:g.54700421C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser1022Cys	rs756900295	missense variant	-	NC_000001.11:g.54700421C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Arg1024Ter	rs199526169	stop gained	-	NC_000001.11:g.54700426C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1024Gln	rs367676842	missense variant	-	NC_000001.11:g.54700427G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile1028Thr	rs1212821007	missense variant	-	NC_000001.11:g.54700439T>C	TOPMed
MROH7	Q68CQ1	p.Leu1029Pro	rs1338054110	missense variant	-	NC_000001.11:g.54700442T>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1031Gly	rs147744184	missense variant	-	NC_000001.11:g.54700447C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1031Leu	rs774077427	missense variant	-	NC_000001.11:g.54700448G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Arg1031His	rs774077427	missense variant	-	NC_000001.11:g.54700448G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Arg1031Cys	rs147744184	missense variant	-	NC_000001.11:g.54700447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1032Ser	rs1450521332	missense variant	-	NC_000001.11:g.54700452G>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys1035Arg	rs528493624	missense variant	-	NC_000001.11:g.54700460A>G	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Thr1036Ile	rs758853291	missense variant	-	NC_000001.11:g.54701144C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala1037Thr	rs973469578	missense variant	-	NC_000001.11:g.54701146G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Val1039Leu	rs750134402	missense variant	-	NC_000001.11:g.54701152G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val1039Met	rs750134402	missense variant	-	NC_000001.11:g.54701152G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1041Asp	rs779676200	missense variant	-	NC_000001.11:g.54701159C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1041Thr	rs755578568	missense variant	-	NC_000001.11:g.54701158G>A	ExAC
MROH7	Q68CQ1	p.Leu1042Arg	rs774283757	missense variant	-	NC_000001.11:g.54701162T>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro1044Leu	rs1310066187	missense variant	-	NC_000001.11:g.54701168C>T	gnomAD
MROH7	Q68CQ1	p.Pro1044Ser	rs1433042864	missense variant	-	NC_000001.11:g.54701167C>T	gnomAD
MROH7	Q68CQ1	p.Ser1045Pro	rs199663218	missense variant	-	NC_000001.11:g.54701170T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met1046Leu	rs1304795344	missense variant	-	NC_000001.11:g.54701173A>C	gnomAD
MROH7	Q68CQ1	p.Met1046Thr	rs1332685763	missense variant	-	NC_000001.11:g.54701174T>C	gnomAD
MROH7	Q68CQ1	p.Met1046Val	rs1304795344	missense variant	-	NC_000001.11:g.54701173A>G	gnomAD
MROH7	Q68CQ1	p.Lys1048Asn	COSM6063662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54701181G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Gly1049Asp	rs377123183	missense variant	-	NC_000001.11:g.54701183G>A	ESP,ExAC,gnomAD
MROH7	Q68CQ1	p.Leu1050Val	rs1206901943	missense variant	-	NC_000001.11:g.54701185C>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys1051Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54701190G>T	NCI-TCGA
MROH7	Q68CQ1	p.Lys1051Asn	rs776782420	missense variant	-	NC_000001.11:g.54701190G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met1053Thr	rs759717992	missense variant	-	NC_000001.11:g.54701195T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Met1056Ile	rs1435386082	missense variant	-	NC_000001.11:g.54701205G>A	gnomAD
MROH7	Q68CQ1	p.Val1058Met	rs776184970	missense variant	-	NC_000001.11:g.54701209G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu1060Ter	COSM3805606	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54701215G>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ala1061Gly	rs201277023	missense variant	-	NC_000001.11:g.54701219C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1061Val	rs201277023	missense variant	-	NC_000001.11:g.54701219C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1061Ser	rs543083195	missense variant	-	NC_000001.11:g.54701218G>T	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Val1062Ala	rs755736946	missense variant	-	NC_000001.11:g.54701222T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.His1063Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54701226C>A	NCI-TCGA
MROH7	Q68CQ1	p.Asn1064Ser	rs949224753	missense variant	-	NC_000001.11:g.54701228A>G	TOPMed
MROH7	Q68CQ1	p.Phe1069Leu	rs1454477368	missense variant	-	NC_000001.11:g.54701244C>G	TOPMed
MROH7	Q68CQ1	p.Lys1070Asn	rs200703123	missense variant	-	NC_000001.11:g.54701247G>T	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Arg1072Leu	rs778801607	missense variant	-	NC_000001.11:g.54701252G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1072Trp	rs754506772	missense variant	-	NC_000001.11:g.54701251C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1072Gln	rs778801607	missense variant	-	NC_000001.11:g.54701252G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp1073Gly	rs980588042	missense variant	-	NC_000001.11:g.54701255A>G	TOPMed
MROH7	Q68CQ1	p.Asp1073His	rs1227195098	missense variant	-	NC_000001.11:g.54701254G>C	gnomAD
MROH7	Q68CQ1	p.Leu1076Met	rs1249929947	missense variant	-	NC_000001.11:g.54701263C>A	gnomAD
MROH7	Q68CQ1	p.Met1077Thr	rs1285581354	missense variant	-	NC_000001.11:g.54701267T>C	TOPMed
MROH7	Q68CQ1	p.Asp1078Tyr	rs1204860050	missense variant	-	NC_000001.11:g.54701269G>T	TOPMed
MROH7	Q68CQ1	p.Asp1078Gly	rs748149950	missense variant	-	NC_000001.11:g.54701270A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser1079Thr	rs1211006442	missense variant	-	NC_000001.11:g.54701273G>C	gnomAD
MROH7	Q68CQ1	p.Ala1080Val	rs201434014	missense variant	-	NC_000001.11:g.54701276C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val1081Phe	rs1248912022	missense variant	-	NC_000001.11:g.54701278G>T	gnomAD
MROH7	Q68CQ1	p.Val1081Ala	rs1370607445	missense variant	-	NC_000001.11:g.54701279T>C	TOPMed
MROH7	Q68CQ1	p.Tyr1082Ter	rs771141407	stop gained	-	NC_000001.11:g.54701283T>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Tyr1082Cys	rs374529089	missense variant	-	NC_000001.11:g.54701282A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val1083Met	rs1370015919	missense variant	-	NC_000001.11:g.54701284G>A	gnomAD
MROH7	Q68CQ1	p.Val1083Ala	rs892132249	missense variant	-	NC_000001.11:g.54701285T>C	TOPMed
MROH7	Q68CQ1	p.Met1085Ile	rs1328074356	missense variant	-	NC_000001.11:g.54701292G>A	TOPMed
MROH7	Q68CQ1	p.Leu1086Arg	rs1446271034	missense variant	-	NC_000001.11:g.54701294T>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln1087Glu	rs777013639	missense variant	-	NC_000001.11:g.54701296C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln1087Arg	rs367806175	missense variant	-	NC_000001.11:g.54701297A>G	ESP,ExAC,TOPMed
MROH7	Q68CQ1	p.Leu1089Val	rs1175333740	missense variant	-	NC_000001.11:g.54701302C>G	TOPMed
MROH7	Q68CQ1	p.Pro1091Leu	rs371692735	missense variant	-	NC_000001.11:g.54701309C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro1091Arg	rs371692735	missense variant	-	NC_000001.11:g.54701309C>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1094Arg	rs762118162	missense variant	-	NC_000001.11:g.54701319C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp1095Asn	rs765968427	missense variant	-	NC_000001.11:g.54701320G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1096Val	rs1235499186	missense variant	-	NC_000001.11:g.54702091C>T	gnomAD
MROH7	Q68CQ1	p.Arg1097Pro	rs565587126	missense variant	-	NC_000001.11:g.54702094G>C	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Arg1097Gln	rs565587126	missense variant	-	NC_000001.11:g.54702094G>A	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Arg1097Ter	rs764872939	stop gained	-	NC_000001.11:g.54702093C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu1098Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54702096G>C	NCI-TCGA
MROH7	Q68CQ1	p.Glu1098Gly	rs1476168146	missense variant	-	NC_000001.11:g.54702097A>G	TOPMed
MROH7	Q68CQ1	p.Glu1098Asp	rs764067786	missense variant	-	NC_000001.11:g.54702098G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Val1099Asp	rs646356	missense variant	-	NC_000001.11:g.54702100T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Val1100Glu	rs781195276	missense variant	-	NC_000001.11:g.54702103T>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Val1100Met	rs1465274875	missense variant	-	NC_000001.11:g.54702102G>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1101His	rs369046017	missense variant	-	NC_000001.11:g.54702106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1101Cys	rs756340446	missense variant	-	NC_000001.11:g.54702105C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1101Leu	rs369046017	missense variant	-	NC_000001.11:g.54702106G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1101Gly	rs756340446	missense variant	-	NC_000001.11:g.54702105C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1102Phe	rs181655955	missense variant	-	NC_000001.11:g.54702109C>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1102Tyr	rs181655955	missense variant	-	NC_000001.11:g.54702109C>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1103Pro	rs779444814	missense variant	-	NC_000001.11:g.54702111T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser1103Phe	rs748659707	missense variant	-	NC_000001.11:g.54702112C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile1105Val	rs1233898157	missense variant	-	NC_000001.11:g.54702117A>G	gnomAD
MROH7	Q68CQ1	p.Asn1106Ser	rs1434462701	missense variant	-	NC_000001.11:g.54702121A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly1109Arg	rs1232260569	missense variant	-	NC_000001.11:g.54702129G>A	gnomAD
MROH7	Q68CQ1	p.Gly1109Glu	rs142396426	missense variant	-	NC_000001.11:g.54702130G>A	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys1110Arg	rs762489319	missense variant	-	NC_000001.11:g.54702133A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln1113Arg	rs564462171	missense variant	-	NC_000001.11:g.54702142A>G	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Lys1114Glu	rs375276448	missense variant	-	NC_000001.11:g.54702144A>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys1114Gln	rs375276448	missense variant	-	NC_000001.11:g.54702144A>C	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1116Gln	rs372811123	missense variant	-	NC_000001.11:g.54702151G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1116Trp	rs369337894	missense variant	-	NC_000001.11:g.54702150C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1117Thr	rs1462936042	missense variant	-	NC_000001.11:g.54702153G>A	TOPMed
MROH7	Q68CQ1	p.Pro1118Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54702156C>G	NCI-TCGA
MROH7	Q68CQ1	p.Pro1118Ser	rs1440715208	missense variant	-	NC_000001.11:g.54702156C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1119Leu	rs370697369	missense variant	-	NC_000001.11:g.54702160G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1119His	rs370697369	missense variant	-	NC_000001.11:g.54702160G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1119Cys	rs376324443	missense variant	-	NC_000001.11:g.54702159C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr1120Ala	rs778800274	missense variant	-	NC_000001.11:g.54702162A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln1121Glu	rs772525490	missense variant	-	NC_000001.11:g.54702165C>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met1123Val	rs1272082123	missense variant	-	NC_000001.11:g.54702171A>G	gnomAD
MROH7	Q68CQ1	p.Glu1124Lys	rs778274332	missense variant	-	NC_000001.11:g.54702174G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Glu1125Lys	rs747350118	missense variant	-	NC_000001.11:g.54702177G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu1127Val	rs1469253600	missense variant	-	NC_000001.11:g.54702183C>G	TOPMed
MROH7	Q68CQ1	p.Ser1129Asn	rs1249539991	missense variant	-	NC_000001.11:g.54702190G>A	gnomAD
MROH7	Q68CQ1	p.Thr1130Ile	rs1166937509	missense variant	-	NC_000001.11:g.54702193C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr1130Ser	rs768372720	missense variant	-	NC_000001.11:g.54702192A>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu1131Phe	rs1408571252	missense variant	-	NC_000001.11:g.54702197G>C	gnomAD
MROH7	Q68CQ1	p.Val1132Ala	rs761442713	missense variant	-	NC_000001.11:g.54702199T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Pro1133Ser	rs1395787560	missense variant	-	NC_000001.11:g.54702201C>T	gnomAD
MROH7	Q68CQ1	p.Met1138Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54702218G>A	NCI-TCGA
MROH7	Q68CQ1	p.Met1138Thr	rs773332837	missense variant	-	NC_000001.11:g.54702217T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln1139Arg	rs766155389	missense variant	-	NC_000001.11:g.54702220A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln1139Ter	rs571257111	stop gained	-	NC_000001.11:g.54702219C>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu1140Lys	rs753679544	missense variant	-	NC_000001.11:g.54702222G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Gly1141Ser	rs755087371	missense variant	-	NC_000001.11:g.54702225G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys1144Arg	rs765527225	missense variant	-	NC_000001.11:g.54702235A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Val1145Ala	rs1211314980	missense variant	-	NC_000001.11:g.54702238T>C	gnomAD
MROH7	Q68CQ1	p.Lys1148Glu	rs983233923	missense variant	-	NC_000001.11:g.54702623A>G	TOPMed,gnomAD
MROH7	Q68CQ1	p.Cys1149Arg	rs1412694510	missense variant	-	NC_000001.11:g.54702626T>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Val1150Gly	rs764214653	missense variant	-	NC_000001.11:g.54702630T>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Thr1152Ile	rs751649634	missense variant	-	NC_000001.11:g.54702636C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Thr1152Pro	rs950220346	missense variant	-	NC_000001.11:g.54702635A>C	TOPMed
MROH7	Q68CQ1	p.Leu1153Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54702638C>A	NCI-TCGA
MROH7	Q68CQ1	p.Arg1155His	rs781739256	missense variant	-	NC_000001.11:g.54702645G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1155Leu	rs781739256	missense variant	-	NC_000001.11:g.54702645G>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1155Cys	rs181035157	missense variant	-	NC_000001.11:g.54702644C>T	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Cys1156Ser	rs1279160718	missense variant	-	NC_000001.11:g.54702648G>C	gnomAD
MROH7	Q68CQ1	p.Phe1159Leu	rs377276727	missense variant	-	NC_000001.11:g.54702656T>C	ESP,ExAC,gnomAD
MROH7	Q68CQ1	p.Ala1161Ser	rs756553653	missense variant	-	NC_000001.11:g.54702662G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Trp1162Cys	rs1438860862	missense variant	-	NC_000001.11:g.54702667G>C	gnomAD
MROH7	Q68CQ1	p.Trp1162Leu	rs1254625742	missense variant	-	NC_000001.11:g.54702666G>T	gnomAD
MROH7	Q68CQ1	p.Arg1167GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.54702676A>-	NCI-TCGA
MROH7	Q68CQ1	p.Arg1167Ile	rs778678605	missense variant	-	NC_000001.11:g.54702681G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala1168Val	rs201261795	missense variant	-	NC_000001.11:g.54702684C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Tyr1169His	rs1394632276	missense variant	-	NC_000001.11:g.54702686T>C	gnomAD
MROH7	Q68CQ1	p.Ser1170Arg	rs371435764	missense variant	-	NC_000001.11:g.54702691C>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1170Arg	rs371435764	missense variant	-	NC_000001.11:g.54702691C>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1171Trp	rs201018136	missense variant	-	NC_000001.11:g.54702692C>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1171Gln	rs201876492	missense variant	-	NC_000001.11:g.54702693G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro1173His	rs564825499	missense variant	-	NC_000001.11:g.54702699C>A	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Trp1174Ter	rs769640448	stop gained	-	NC_000001.11:g.54702702G>A	ExAC
MROH7	Q68CQ1	p.Asn1176Ser	rs1332390564	missense variant	-	NC_000001.11:g.54702708A>G	gnomAD
MROH7	Q68CQ1	p.Gln1178Pro	rs775673994	missense variant	-	NC_000001.11:g.54702714A>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln1179Ter	rs1440596970	stop gained	-	NC_000001.11:g.54702716C>T	TOPMed
MROH7	Q68CQ1	p.Gln1179Arg	rs368991246	missense variant	-	NC_000001.11:g.54702717A>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1182Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54702725G>A	NCI-TCGA
MROH7	Q68CQ1	p.Ala1182Val	rs1253490807	missense variant	-	NC_000001.11:g.54702726C>T	gnomAD
MROH7	Q68CQ1	p.Cys1185Ser	rs751601025	missense variant	-	NC_000001.11:g.54702735G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Cys1185Arg	COSM4395884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54702734T>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Lys1186Asn	rs550624883	missense variant	-	NC_000001.11:g.54702739G>C	1000Genomes,ExAC,gnomAD
MROH7	Q68CQ1	p.Cys1187Tyr	rs567221122	missense variant	-	NC_000001.11:g.54702741G>A	1000Genomes
MROH7	Q68CQ1	p.Thr1191Ile	rs775197078	missense variant	-	NC_000001.11:g.54706442C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr1191Asn	rs775197078	missense variant	-	NC_000001.11:g.54706442C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1193Ter	rs368624796	stop gained	-	NC_000001.11:g.54706447C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1193Gln	rs377043574	missense variant	-	NC_000001.11:g.54706448G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1196Thr	rs11807983	missense variant	-	NC_000001.11:g.54706456G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile1198Met	rs573086314	missense variant	-	NC_000001.11:g.54706464A>G	gnomAD
MROH7	Q68CQ1	p.Phe1199Ile	rs1289088940	missense variant	-	NC_000001.11:g.54706465T>A	gnomAD
MROH7	Q68CQ1	p.Leu1200Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54706469T>C	NCI-TCGA
MROH7	Q68CQ1	p.Ser1201Thr	COSM259767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54706472G>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ser1201Gly	rs373580045	missense variant	-	NC_000001.11:g.54706471A>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu1204Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54706480C>A	NCI-TCGA
MROH7	Q68CQ1	p.Glu1205Asp	rs1293828487	missense variant	-	NC_000001.11:g.54706485G>C	gnomAD
MROH7	Q68CQ1	p.Glu1205Gln	rs1382030818	missense variant	-	NC_000001.11:g.54706483G>C	gnomAD
MROH7	Q68CQ1	p.Tyr1206Ter	rs370989009	stop gained	-	NC_000001.11:g.54706488T>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1207Thr	rs375499322	missense variant	-	NC_000001.11:g.54706489G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn1209Ile	rs368343655	missense variant	-	NC_000001.11:g.54706496A>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asn1209Lys	rs372927834	missense variant	-	NC_000001.11:g.54706497C>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1211Trp	rs375795723	missense variant	-	NC_000001.11:g.54706501C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1211Gln	rs763807533	missense variant	-	NC_000001.11:g.54706502G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1213Phe	rs1373000656	missense variant	-	NC_000001.11:g.54706508C>T	TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1215Trp	rs780693038	missense variant	-	NC_000001.11:g.54706513C>T	ExAC,TOPMed
MROH7	Q68CQ1	p.Arg1215Gln	rs371231994	missense variant	-	NC_000001.11:g.54706514G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Lys1216Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54706516A>G	NCI-TCGA
MROH7	Q68CQ1	p.Cys1217Tyr	rs1196873788	missense variant	-	NC_000001.11:g.54706520G>A	TOPMed
MROH7	Q68CQ1	p.Val1219Asp	rs779991896	missense variant	-	NC_000001.11:g.54706526T>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Val1219Ala	rs779991896	missense variant	-	NC_000001.11:g.54706526T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Val1219Ile	rs756008636	missense variant	-	NC_000001.11:g.54706525G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Met1220Val	rs200035527	missense variant	-	NC_000001.11:g.54706528A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ile1222Thr	rs12090399	missense variant	-	NC_000001.11:g.54706535T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly1223Glu	rs755672932	missense variant	-	NC_000001.11:g.54709014G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser1224Phe	COSM1246672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709017C>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Val1226Ile	rs749293821	missense variant	-	NC_000001.11:g.54709022G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Pro1227Ser	COSM4239746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709025C>T	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Pro1227Leu	rs868046332	missense variant	-	NC_000001.11:g.54709026C>T	-
MROH7	Q68CQ1	p.Met1229Val	rs754754926	missense variant	-	NC_000001.11:g.54709031A>G	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Met1229Thr	rs1233327999	missense variant	-	NC_000001.11:g.54709032T>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Met1229Ile	COSM4395879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709033G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Met1229Leu	rs754754926	missense variant	-	NC_000001.11:g.54709031A>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu1230Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54709034G>A	NCI-TCGA
MROH7	Q68CQ1	p.Ser1231Asn	rs1309012111	missense variant	-	NC_000001.11:g.54709038G>A	gnomAD
MROH7	Q68CQ1	p.Met1233Ile	rs778712813	missense variant	-	NC_000001.11:g.54709045G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Thr1234Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54709046A>G	NCI-TCGA
MROH7	Q68CQ1	p.Glu1235Ala	rs1337871900	missense variant	-	NC_000001.11:g.54709050A>C	TOPMed
MROH7	Q68CQ1	p.Arg1237Cys	rs747900802	missense variant	-	NC_000001.11:g.54709055C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1237Leu	rs200631122	missense variant	-	NC_000001.11:g.54709056G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1237His	rs200631122	missense variant	-	NC_000001.11:g.54709056G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu1238Pro	rs1005051992	missense variant	-	NC_000001.11:g.54709059T>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu1240Asp	rs1453463583	missense variant	-	NC_000001.11:g.54709066A>C	TOPMed,gnomAD
MROH7	Q68CQ1	p.Glu1240Ter	rs1337417045	stop gained	-	NC_000001.11:g.54709064G>T	TOPMed
MROH7	Q68CQ1	p.Val1241Gly	rs1456602725	missense variant	-	NC_000001.11:g.54709068T>G	-
MROH7	Q68CQ1	p.Val1241Leu	rs747053561	missense variant	-	NC_000001.11:g.54709067G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala1243Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54709074C>A	NCI-TCGA
MROH7	Q68CQ1	p.Ala1243Ser	rs368891569	missense variant	-	NC_000001.11:g.54709073G>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1243Thr	rs368891569	missense variant	-	NC_000001.11:g.54709073G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1244Val	rs753306208	missense variant	-	NC_000001.11:g.54709946C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu1248Phe	COSM681721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709959G>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Arg1249Lys	COSM6063659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54709961G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Ala1254Val	rs752642703	missense variant	-	NC_000001.11:g.54709976C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala1254Gly	rs752642703	missense variant	-	NC_000001.11:g.54709976C>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser1255Thr	rs1241943056	missense variant	-	NC_000001.11:g.54709978T>A	gnomAD
MROH7	Q68CQ1	p.Ile1258Val	rs1190777301	missense variant	-	NC_000001.11:g.54709987A>G	gnomAD
MROH7	Q68CQ1	p.Tyr1259His	rs183037308	missense variant	-	NC_000001.11:g.54709990T>C	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Tyr1259Ter	rs201217871	stop gained	-	NC_000001.11:g.54709992C>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Tyr1259Cys	rs149350120	missense variant	-	NC_000001.11:g.54709991A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Tyr1259Ter	rs201217871	stop gained	-	NC_000001.11:g.54709992C>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1260Thr	rs750024173	missense variant	-	NC_000001.11:g.54709993G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Ala1260Glu	rs764293392	missense variant	-	NC_000001.11:g.54709994C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln1262Ter	rs1355961356	stop gained	-	NC_000001.11:g.54709999C>T	TOPMed
MROH7	Q68CQ1	p.Val1263Gly	rs533979276	missense variant	-	NC_000001.11:g.54710003T>G	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gln1264Lys	rs780611084	missense variant	-	NC_000001.11:g.54710005C>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln1264Arg	rs200340301	missense variant	-	NC_000001.11:g.54710006A>G	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Asp1265Asn	rs1398445178	missense variant	-	NC_000001.11:g.54710008G>A	TOPMed
MROH7	Q68CQ1	p.Cys1271Phe	rs375213568	missense variant	-	NC_000001.11:g.54710027G>T	ESP,ExAC
MROH7	Q68CQ1	p.Cys1271Gly	rs1005600806	missense variant	-	NC_000001.11:g.54710026T>G	TOPMed
MROH7	Q68CQ1	p.Trp1272Arg	rs1350737542	missense variant	-	NC_000001.11:g.54710029T>A	TOPMed,gnomAD
MROH7	Q68CQ1	p.Trp1272Leu	rs1222905255	missense variant	-	NC_000001.11:g.54710030G>T	gnomAD
MROH7	Q68CQ1	p.Trp1272Ter	rs762197518	stop gained	-	NC_000001.11:g.54710031G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Gln1273Ter	rs1351964040	stop gained	-	NC_000001.11:g.54710032C>T	gnomAD
MROH7	Q68CQ1	p.Ser1275Pro	rs770523294	missense variant	-	NC_000001.11:g.54710038T>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1275Phe	rs776302756	missense variant	-	NC_000001.11:g.54710039C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Leu1277GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.54710044_54710045insAATTCAAATTA	NCI-TCGA
MROH7	Q68CQ1	p.Pro1278Leu	rs759080340	missense variant	-	NC_000001.11:g.54710048C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.His1279Gln	rs144863077	missense variant	-	NC_000001.11:g.54710052C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Gly1280Arg	rs762728770	missense variant	-	NC_000001.11:g.54710053G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1282Leu	rs764155835	missense variant	-	NC_000001.11:g.54710060C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1282Ter	rs764155835	stop gained	-	NC_000001.11:g.54710060C>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Trp1283Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.54710064G>C	NCI-TCGA
MROH7	Q68CQ1	p.Trp1283Arg	rs751348263	missense variant	-	NC_000001.11:g.54710062T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Trp1283Ter	COSM3490989	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.54710064G>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Val1284Glu	rs1337285239	missense variant	-	NC_000001.11:g.54710066T>A	TOPMed
MROH7	Q68CQ1	p.Val1284Leu	rs757165401	missense variant	-	NC_000001.11:g.54710065G>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Val1284Met	rs757165401	missense variant	-	NC_000001.11:g.54710065G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Cys1285Tyr	rs750681124	missense variant	-	NC_000001.11:g.54710069G>A	ExAC,gnomAD
MROH7	Q68CQ1	p.Cys1285Arg	rs1330792563	missense variant	-	NC_000001.11:g.54710068T>C	gnomAD
MROH7	Q68CQ1	p.Ala1288Val	rs1445813080	missense variant	-	NC_000001.11:g.54710078C>T	TOPMed
MROH7	Q68CQ1	p.Thr1289Ile	rs756209885	missense variant	-	NC_000001.11:g.54710081C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.His1291Gln	COSM426489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54710088C>A	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.His1291Tyr	rs779944388	missense variant	-	NC_000001.11:g.54710086C>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Arg1292His	rs376743757	missense variant	-	NC_000001.11:g.54710090G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1292Cys	rs577302951	missense variant	-	NC_000001.11:g.54710089C>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Trp1293Arg	rs202134239	missense variant	-	NC_000001.11:g.54710092T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Trp1293Cys	rs748491584	missense variant	-	NC_000001.11:g.54710094G>T	ExAC,gnomAD
MROH7	Q68CQ1	p.Ser1294Ile	rs558440480	missense variant	-	NC_000001.11:g.54710096G>T	1000Genomes,TOPMed
MROH7	Q68CQ1	p.Ser1294Arg	rs139751339	missense variant	-	NC_000001.11:g.54710097C>G	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1296Thr	rs187438824	missense variant	-	NC_000001.11:g.54710102G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Thr1302Ser	rs1236613528	missense variant	-	NC_000001.11:g.54710120C>G	gnomAD
MROH7	Q68CQ1	p.Ser1303Phe	rs1455777128	missense variant	-	NC_000001.11:g.54710123C>T	gnomAD
MROH7	Q68CQ1	p.Ser1303Tyr	rs1455777128	missense variant	-	NC_000001.11:g.54710123C>A	gnomAD
MROH7	Q68CQ1	p.Arg1306Trp	rs61768790	missense variant	-	NC_000001.11:g.54710131C>T	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1306Gln	rs377472472	missense variant	-	NC_000001.11:g.54710132G>A	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1307His	rs750250573	missense variant	-	NC_000001.11:g.54710135G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Arg1307Cys	rs201511804	missense variant	-	NC_000001.11:g.54710134C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Trp1309Ter	rs756224709	stop gained	-	NC_000001.11:g.54710142G>A	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Trp1309Leu	rs1372517416	missense variant	-	NC_000001.11:g.54710141G>T	gnomAD
MROH7	Q68CQ1	p.Trp1309Cys	rs756224709	missense variant	-	NC_000001.11:g.54710142G>C	ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Trp1309Arg	rs1287869056	missense variant	-	NC_000001.11:g.54710140T>A	TOPMed
MROH7	Q68CQ1	p.Gln1312Ter	rs201739371	stop gained	-	NC_000001.11:g.54710149C>T	ESP,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ala1313Pro	rs143029488	missense variant	-	NC_000001.11:g.54710152G>C	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1316Phe	rs200978433	missense variant	-	NC_000001.11:g.54710162C>T	1000Genomes,ExAC,TOPMed,gnomAD
MROH7	Q68CQ1	p.Ser1316Pro	rs779386790	missense variant	-	NC_000001.11:g.54710161T>C	ExAC,gnomAD
MROH7	Q68CQ1	p.Lys1318Arg	rs758918479	missense variant	-	NC_000001.11:g.54710168A>G	ExAC,gnomAD
MROH7	Q68CQ1	p.Met1319Leu	rs1256291467	missense variant	-	NC_000001.11:g.54710170A>C	gnomAD
MROH7	Q68CQ1	p.Met1319Ile	rs1469866384	missense variant	-	NC_000001.11:g.54710172G>A	gnomAD
MROH7	Q68CQ1	p.Leu1321Phe	COSM6126873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.54710178G>C	NCI-TCGA Cosmic
MROH7	Q68CQ1	p.Leu1321Phe	rs1431240371	missense variant	-	NC_000001.11:g.54710178G>T	gnomAD
MROH7	Q68CQ1	p.Lys1322Asn	rs376406945	missense variant	-	NC_000001.11:g.54710181G>T	ESP,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro4Ser	rs758617116	missense variant	-	NC_000016.10:g.53700714G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Pro4Ala	rs758617116	missense variant	-	NC_000016.10:g.53700714G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp6Val	rs370703272	missense variant	-	NC_000016.10:g.53700707T>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro13Leu	rs1439235803	missense variant	-	NC_000016.10:g.53700686G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Pro13Ser	rs1294590626	missense variant	-	NC_000016.10:g.53700687G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Lys15Glu	rs1369026543	missense variant	-	NC_000016.10:g.53700681T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Asp16Asn	rs1168346867	missense variant	-	NC_000016.10:g.53700678C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Thr17Ile	rs753794628	missense variant	-	NC_000016.10:g.53700674G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Thr17Arg	rs753794628	missense variant	-	NC_000016.10:g.53700674G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gly18Asp	rs1432623543	missense variant	-	NC_000016.10:g.53700671C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn20Thr	rs766276171	missense variant	-	NC_000016.10:g.53700665T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu21Pro	rs949179084	missense variant	-	NC_000016.10:g.53700662A>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Phe22Leu	rs760486367	missense variant	-	NC_000016.10:g.53700658A>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly23Ter	RCV000722933	frameshift	-	NC_000016.10:g.53700659_53700660dup	ClinVar
RPGRIP1L	Q68CZ1	p.Gly25Arg	rs936558765	missense variant	-	NC_000016.10:g.53700651C>G	TOPMed
RPGRIP1L	Q68CZ1	p.Gly25Val	rs143515432	missense variant	-	NC_000016.10:g.53700650C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu29Ala	rs1246633231	missense variant	-	NC_000016.10:g.53696295T>G	TOPMed
RPGRIP1L	Q68CZ1	p.Glu29Lys	rs771740102	missense variant	-	NC_000016.10:g.53700639C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Thr30Ile	rs766334327	missense variant	-	NC_000016.10:g.53696292G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Thr32Ile	rs1195150584	missense variant	-	NC_000016.10:g.53696286G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Thr32Ser	rs756062877	missense variant	-	NC_000016.10:g.53696287T>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr32Ala	rs756062877	missense variant	-	NC_000016.10:g.53696287T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg34Gly	rs565245381	missense variant	-	NC_000016.10:g.53696281G>C	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg34Trp	rs565245381	missense variant	-	NC_000016.10:g.53696281G>A	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg34Gln	rs761513762	missense variant	-	NC_000016.10:g.53696280C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met36Val	rs867836079	missense variant	-	NC_000016.10:g.53696275T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Lys37Asn	rs774172381	missense variant	-	NC_000016.10:g.53696270C>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys37Met	rs1403169303	missense variant	-	NC_000016.10:g.53696271T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Arg39His	RCV000392549	missense variant	-	NC_000016.10:g.53696265C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg39His	rs886042345	missense variant	-	NC_000016.10:g.53696265C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg39Cys	rs1455684300	missense variant	-	NC_000016.10:g.53696266G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg39Leu	rs886042345	missense variant	-	NC_000016.10:g.53696265C>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln40Ter	rs1555616593	stop gained	-	NC_000016.10:g.53696263G>A	-
RPGRIP1L	Q68CZ1	p.Gln40Ter	RCV000505609	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53696263G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Ala41Thr	rs1457715829	missense variant	-	NC_000016.10:g.53696260C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Ala41Val	rs1365531088	missense variant	-	NC_000016.10:g.53696259G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg44Cys	rs774932728	missense variant	-	NC_000016.10:g.53696251G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg44His	rs771458105	missense variant	-	NC_000016.10:g.53696250C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val45Ile	rs1463122464	missense variant	-	NC_000016.10:g.53696248C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Arg47Pro	rs773558676	missense variant	-	NC_000016.10:g.53696241C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg47His	rs773558676	missense variant	-	NC_000016.10:g.53696241C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu48Asp	rs377512064	missense variant	-	NC_000016.10:g.53696237C>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu50Arg	rs1264265906	missense variant	-	NC_000016.10:g.53696232A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Arg53Gly	rs1470142483	missense variant	-	NC_000016.10:g.53696224T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu55Trp	rs1222800573	missense variant	-	NC_000016.10:g.53696217A>C	TOPMed
RPGRIP1L	Q68CZ1	p.Arg56His	RCV000521824	missense variant	-	NC_000016.10:g.53696214C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg56His	rs374157187	missense variant	-	NC_000016.10:g.53696214C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg56Cys	rs755258407	missense variant	-	NC_000016.10:g.53696215G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu57Phe	rs146925098	missense variant	-	NC_000016.10:g.53696210C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu57Phe	RCV000262935	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53696210C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Leu57Phe	RCV000353091	missense variant	Nephronophthisis	NC_000016.10:g.53696210C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Leu57Phe	RCV000489212	missense variant	-	NC_000016.10:g.53696210C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Leu57Phe	RCV000298218	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53696210C>A	ClinVar
RPGRIP1L	Q68CZ1	p.His58Arg	rs756011104	missense variant	-	NC_000016.10:g.53696208T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp59His	rs750355385	missense variant	-	NC_000016.10:g.53696206C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp59Asn	rs750355385	missense variant	-	NC_000016.10:g.53696206C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn61Ile	rs140115185	missense variant	-	NC_000016.10:g.53696199T>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile62Val	rs1409709332	missense variant	-	NC_000016.10:g.53696197T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Leu64Val	rs1387017352	missense variant	-	NC_000016.10:g.53696191G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Gln66Ter	rs751444506	stop gained	-	NC_000016.10:g.53696185G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln66Lys	rs751444506	missense variant	-	NC_000016.10:g.53696185G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His67Leu	rs763837182	missense variant	-	NC_000016.10:g.53696181T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg69Ser	rs775007896	missense variant	-	NC_000016.10:g.53696176G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg69Cys	rs775007896	missense variant	-	NC_000016.10:g.53696176G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg69His	rs574091991	missense variant	-	NC_000016.10:g.53696175C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg69His	RCV000636975	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53696175C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg69Leu	rs574091991	missense variant	-	NC_000016.10:g.53696175C>A	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp73His	RCV000275958	missense variant	Nephronophthisis	NC_000016.10:g.53696164C>G	ClinVar
RPGRIP1L	Q68CZ1	p.Asp73His	RCV000311697	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53696164C>G	ClinVar
RPGRIP1L	Q68CZ1	p.Asp73His	RCV000371075	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53696164C>G	ClinVar
RPGRIP1L	Q68CZ1	p.Asp73His	rs369451829	missense variant	-	NC_000016.10:g.53696164C>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met78Thr	rs1465431958	missense variant	-	NC_000016.10:g.53692362A>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met78Ile	rs1242588637	missense variant	-	NC_000016.10:g.53692361C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Ala79Thr	rs763182141	missense variant	-	NC_000016.10:g.53692360C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg84Gln	RCV000310412	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692344C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg84Gln	RCV000464407	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692344C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg84Gln	RCV000398312	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53692344C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg84Gln	RCV000346684	missense variant	Nephronophthisis	NC_000016.10:g.53692344C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg84Gln	rs151212590	missense variant	-	NC_000016.10:g.53692344C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg84Trp	rs770098954	missense variant	-	NC_000016.10:g.53692345G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg84Trp	RCV000224509	missense variant	-	NC_000016.10:g.53692345G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Arg84Gln	RCV000765298	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53692344C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val86Leu	rs149072900	missense variant	-	NC_000016.10:g.53692339C>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val86Asp	rs758151453	missense variant	-	NC_000016.10:g.53692338A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val86Ile	rs149072900	missense variant	-	NC_000016.10:g.53692339C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val86Gly	rs758151453	missense variant	-	NC_000016.10:g.53692338A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asn87Lys	rs752587948	missense variant	-	NC_000016.10:g.53692334A>T	ExAC
RPGRIP1L	Q68CZ1	p.Asp88Tyr	rs778424280	missense variant	-	NC_000016.10:g.53692333C>A	ExAC
RPGRIP1L	Q68CZ1	p.Lys89Glu	rs1291099401	missense variant	-	NC_000016.10:g.53692330T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Lys90Asn	rs1440736858	missense variant	-	NC_000016.10:g.53692325T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Lys90Glu	rs754715408	missense variant	-	NC_000016.10:g.53692327T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg91Lys	rs1324611876	missense variant	-	NC_000016.10:g.53692323C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Tyr92Ter	rs753287410	stop gained	-	NC_000016.10:g.53692319A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr92Phe	rs1427012567	missense variant	-	NC_000016.10:g.53692320T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Glu93Asp	rs762264695	missense variant	-	NC_000016.10:g.53692316C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu93Val	rs765876839	missense variant	-	NC_000016.10:g.53692317T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg94Trp	rs377004672	missense variant	-	NC_000016.10:g.53692315G>A	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg94Gln	rs549881475	missense variant	-	NC_000016.10:g.53692314C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg94Pro	rs549881475	missense variant	-	NC_000016.10:g.53692314C>G	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly96Asp	rs201385056	missense variant	-	NC_000016.10:g.53692308C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly98Val	RCV000345463	missense variant	Nephronophthisis	NC_000016.10:g.53692302C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Gly98Val	RCV000285787	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692302C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Gly98Val	rs886052098	missense variant	-	NC_000016.10:g.53692302C>A	-
RPGRIP1L	Q68CZ1	p.Gly98Ser	rs202124667	missense variant	-	NC_000016.10:g.53692303C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly98Val	RCV000396994	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53692302C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Lys100Arg	rs746896160	missense variant	-	NC_000016.10:g.53692296T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg101Trp	rs1236387905	missense variant	-	NC_000016.10:g.53692294G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Arg101Gln	rs146484603	missense variant	-	NC_000016.10:g.53692293C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly103Ter	rs747880301	stop gained	-	NC_000016.10:g.53692288C>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg104Gln	rs1486460799	missense variant	-	NC_000016.10:g.53692284C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Arg104Ter	rs547189939	stop gained	-	NC_000016.10:g.53692285G>A	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp105Glu	rs1307589856	missense variant	-	NC_000016.10:g.53692280A>T	gnomAD
RPGRIP1L	Q68CZ1	p.Asp105Asn	rs748967524	missense variant	-	NC_000016.10:g.53692282C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Met108Ile	rs371226088	missense variant	-	NC_000016.10:g.53692271C>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile112Thr	rs755597211	missense variant	-	NC_000016.10:g.53692260A>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln114His	rs1345034748	missense variant	-	NC_000016.10:g.53692253C>G	TOPMed
RPGRIP1L	Q68CZ1	p.Gln114Arg	rs201413825	missense variant	-	NC_000016.10:g.53692254T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln114Arg	RCV000596655	missense variant	-	NC_000016.10:g.53692254T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Lys118Gln	rs1057103997	missense variant	-	NC_000016.10:g.53692243T>G	TOPMed
RPGRIP1L	Q68CZ1	p.His120Asn	rs1432721427	missense variant	-	NC_000016.10:g.53692237G>T	gnomAD
RPGRIP1L	Q68CZ1	p.His120Arg	rs1424333330	missense variant	-	NC_000016.10:g.53692236T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Glu123Gly	rs764506811	missense variant	-	NC_000016.10:g.53692227T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln125Pro	rs938661805	missense variant	-	NC_000016.10:g.53692221T>G	TOPMed
RPGRIP1L	Q68CZ1	p.Thr128Asn	rs759004632	missense variant	-	NC_000016.10:g.53692212G>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu129His	rs927281262	missense variant	-	NC_000016.10:g.53692209A>T	TOPMed
RPGRIP1L	Q68CZ1	p.Lys130Asn	rs1480752756	missense variant	-	NC_000016.10:g.53692205T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Lys130Ile	rs765642149	missense variant	-	NC_000016.10:g.53692206T>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys130Arg	rs765642149	missense variant	-	NC_000016.10:g.53692206T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg132Ter	RCV000001127	nonsense	Meckel syndrome type 5 (MKS5)	NC_000016.10:g.53692201T>A	ClinVar
RPGRIP1L	Q68CZ1	p.Arg132Ter	rs121918201	stop gained	-	NC_000016.10:g.53692201T>A	-
RPGRIP1L	Q68CZ1	p.Ser135Ala	rs1308865361	missense variant	-	NC_000016.10:g.53692192A>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser135Ter	rs1311148417	stop gained	-	NC_000016.10:g.53692191G>T	gnomAD
RPGRIP1L	Q68CZ1	p.Lys137Gln	rs1264244756	missense variant	-	NC_000016.10:g.53692186T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Leu140Val	rs1225898868	missense variant	-	NC_000016.10:g.53692177G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu140Pro	rs777015830	missense variant	-	NC_000016.10:g.53692176A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Thr148Ile	rs1301354988	missense variant	-	NC_000016.10:g.53692152G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Pro149Leu	rs1406955571	missense variant	-	NC_000016.10:g.53692149G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Tyr150His	rs773397219	missense variant	-	NC_000016.10:g.53692147A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr150Phe	rs771844271	missense variant	-	NC_000016.10:g.53692146T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr150Cys	rs771844271	missense variant	-	NC_000016.10:g.53692146T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asn152Ser	rs1181172841	missense variant	-	NC_000016.10:g.53692140T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln154Pro	rs1252193112	missense variant	-	NC_000016.10:g.53692134T>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln154Leu	rs1252193112	missense variant	-	NC_000016.10:g.53692134T>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln154Glu	rs773976897	missense variant	-	NC_000016.10:g.53692135G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln154Glu	RCV000591520	missense variant	-	NC_000016.10:g.53692135G>C	ClinVar
RPGRIP1L	Q68CZ1	p.Arg156Cys	rs527539036	missense variant	-	NC_000016.10:g.53692129G>A	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg156His	rs368033553	missense variant	-	NC_000016.10:g.53692128C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg156Ser	rs527539036	missense variant	-	NC_000016.10:g.53692129G>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg161His	rs74957591	missense variant	-	NC_000016.10:g.53692113C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg161Leu	rs74957591	missense variant	-	NC_000016.10:g.53692113C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg161Cys	rs374860980	missense variant	-	NC_000016.10:g.53692114G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg161His	RCV000636977	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692113C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg161Pro	rs74957591	missense variant	-	NC_000016.10:g.53692113C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala164Thr	rs1327679496	missense variant	-	NC_000016.10:g.53692105C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Asn165Ser	rs749282106	missense variant	-	NC_000016.10:g.53692101T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ala168Thr	RCV000817532	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53692093C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Ala168Thr	rs780770984	missense variant	-	NC_000016.10:g.53692093C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala168Thr	RCV000598220	missense variant	-	NC_000016.10:g.53692093C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Gly169Asp	rs576414226	missense variant	-	NC_000016.10:g.53692089C>T	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gly169Ser	rs1310789427	missense variant	-	NC_000016.10:g.53692090C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Gly169Val	rs576414226	missense variant	-	NC_000016.10:g.53692089C>A	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu172Ter	rs1285223205	stop gained	-	NC_000016.10:g.53692081C>A	TOPMed
RPGRIP1L	Q68CZ1	p.Arg175Gly	rs1338780049	missense variant	-	NC_000016.10:g.53692072T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Lys176Thr	rs1433064323	missense variant	-	NC_000016.10:g.53692068T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Gly177Val	rs987512823	missense variant	-	NC_000016.10:g.53687965C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Ile178Val	rs140067659	missense variant	-	NC_000016.10:g.53687963T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile178Val	RCV000193122	missense variant	-	NC_000016.10:g.53687963T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Gln181Ter	rs1259684278	stop gained	-	NC_000016.10:g.53687954G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Ala183Val	rs1209593787	missense variant	-	NC_000016.10:g.53687947G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp184Val	rs1412326096	missense variant	-	NC_000016.10:g.53687944T>A	TOPMed
RPGRIP1L	Q68CZ1	p.Val185Ile	rs1490627518	missense variant	-	NC_000016.10:g.53687942C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu187Gly	rs767678013	missense variant	-	NC_000016.10:g.53687935T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr188Ala	rs761917499	missense variant	-	NC_000016.10:g.53687933T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro189Ser	rs751654979	missense variant	-	NC_000016.10:g.53687930G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Met192Lys	rs1270840441	missense variant	-	NC_000016.10:g.53687920A>T	gnomAD
RPGRIP1L	Q68CZ1	p.Lys195Ter	rs1277577195	stop gained	-	NC_000016.10:g.53687912T>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys195Ter	RCV000812456	nonsense	Joubert syndrome (JBTS)	NC_000016.10:g.53687912T>A	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr196His	rs908885473	missense variant	-	NC_000016.10:g.53687909A>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser199Gly	VAR_066476	Missense	-	-	UniProt
RPGRIP1L	Q68CZ1	p.Leu200Ter	rs564992297	stop gained	-	NC_000016.10:g.53687896A>C	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu201Phe	rs1404063565	missense variant	-	NC_000016.10:g.53687894G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Glu203Asp	rs775203325	missense variant	-	NC_000016.10:g.53687886T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala204Asp	rs769611947	missense variant	-	NC_000016.10:g.53687884G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala204Thr	rs1304517499	missense variant	-	NC_000016.10:g.53687885C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Ala204Gly	rs769611947	missense variant	-	NC_000016.10:g.53687884G>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile208Val	rs1167981125	missense variant	-	NC_000016.10:g.53687873T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg209Lys	rs917696159	missense variant	-	NC_000016.10:g.53687869C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn210Asp	rs146584570	missense variant	-	NC_000016.10:g.53687867T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn210Asp	RCV000489985	missense variant	-	NC_000016.10:g.53687867T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Glu212Gln	rs766043636	missense variant	-	NC_000016.10:g.53686575C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn213Lys	rs376808910	missense variant	-	NC_000016.10:g.53686570G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val214Ile	rs139067427	missense variant	-	NC_000016.10:g.53686569C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val214Ile	RCV000406622	missense variant	-	NC_000016.10:g.53686569C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val214Ala	rs1189287737	missense variant	-	NC_000016.10:g.53686568A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Ile215Thr	rs373603989	missense variant	-	NC_000016.10:g.53686565A>G	ESP,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile215Val	rs930198445	missense variant	-	NC_000016.10:g.53686566T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln216Arg	rs1325303630	missense variant	-	NC_000016.10:g.53686562T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Gln216His	rs1279721167	missense variant	-	NC_000016.10:g.53686561C>G	gnomAD
RPGRIP1L	Q68CZ1	p.Gly220Ser	rs1443943698	missense variant	-	NC_000016.10:g.53686551C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Gly220Asp	rs139259555	missense variant	-	NC_000016.10:g.53686550C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly220Val	rs139259555	missense variant	-	NC_000016.10:g.53686550C>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln221His	rs776104875	missense variant	-	NC_000016.10:g.53686546C>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile222Thr	rs770267954	missense variant	-	NC_000016.10:g.53686544A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile222Arg	rs770267954	missense variant	-	NC_000016.10:g.53686544A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu225Ser	rs746227955	missense variant	-	NC_000016.10:g.53686535A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu228Met	rs369953449	missense variant	-	NC_000016.10:g.53686527A>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala229Thr	rs61747071	missense variant	-	NC_000016.10:g.53686524C>T	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Ala229Thr	VAR_066477	missense variant	-	NC_000016.10:g.53686524C>T	UniProt
RPGRIP1L	Q68CZ1	p.Ala229Thr	rs61747071	missense variant	-	NC_000016.10:g.53686524C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala229Thr	RCV000001133	missense variant	Retinitis pigmentosa in ciliopathies, modifier of	NC_000016.10:g.53686524C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu230Asp	rs377418936	missense variant	-	NC_000016.10:g.53686519C>A	ESP,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu230Asp	rs377418936	missense variant	-	NC_000016.10:g.53686519C>G	ESP,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Lys233Ter	rs121918197	stop gained	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53686512T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys233Gln	rs121918197	missense variant	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53686512T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys233Ter	RCV000367935	nonsense	RPGRIP1L-Related Disorders	NC_000016.10:g.53686512T>A	ClinVar
RPGRIP1L	Q68CZ1	p.Gln235His	rs752815435	missense variant	-	NC_000016.10:g.53686504C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg237Trp	rs369055168	missense variant	-	NC_000016.10:g.53686500T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn241Ter	RCV000049975	frameshift	Meckel syndrome type 5 (MKS5)	NC_000016.10:g.53686485_53686488del	ClinVar
RPGRIP1L	Q68CZ1	p.Glu242Lys	rs753600852	missense variant	-	NC_000016.10:g.53686485C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile243Thr	rs766117001	missense variant	-	NC_000016.10:g.53686481A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu244Ala	rs760325160	missense variant	-	NC_000016.10:g.53686478T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu244Asp	rs1225308895	missense variant	-	NC_000016.10:g.53686477C>G	gnomAD
RPGRIP1L	Q68CZ1	p.Gln249Arg	rs1451581848	missense variant	-	NC_000016.10:g.53686463T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Leu250Phe	rs548877796	missense variant	-	NC_000016.10:g.53686461G>A	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg251Gln	rs767314963	missense variant	-	NC_000016.10:g.53686457C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg251Ter	rs993394322	stop gained	-	NC_000016.10:g.53686458G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln253Ter	rs121918199	stop gained	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53686452G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln253Ter	RCV000001125	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53686452G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Ala255Thr	rs770275024	missense variant	-	NC_000016.10:g.53686446C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala255Gly	rs1404001784	missense variant	-	NC_000016.10:g.53686445G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Thr256Ile	rs151174849	missense variant	-	NC_000016.10:g.53686442G>A	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr256Ile	RCV000550791	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53686442G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Asp257Gly	rs777018286	missense variant	-	NC_000016.10:g.53686439T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg259Lys	rs1446473521	missense variant	-	NC_000016.10:g.53686433C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Arg263Gln	rs916661298	missense variant	-	NC_000016.10:g.53675111C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Arg263Trp	rs773626315	missense variant	-	NC_000016.10:g.53675112G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg263Gly	rs773626315	missense variant	-	NC_000016.10:g.53675112G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp264Tyr	rs772225882	missense variant	-	NC_000016.10:g.53675109C>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp264Gly	rs375590429	missense variant	-	NC_000016.10:g.53675108T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met268Lys	rs779001013	missense variant	-	NC_000016.10:g.53675096A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln274Ter	rs1284325064	stop gained	-	NC_000016.10:g.53675079G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Gln274Leu	rs141574764	missense variant	-	NC_000016.10:g.53675078T>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu277Lys	rs756174789	missense variant	-	NC_000016.10:g.53675070C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser279Asn	rs556918902	missense variant	-	NC_000016.10:g.53675063C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser279Arg	rs1172361802	missense variant	-	NC_000016.10:g.53675062G>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn280Ser	rs1468162484	missense variant	-	NC_000016.10:g.53675060T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala281Val	rs756933002	missense variant	-	NC_000016.10:g.53675057G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met285Val	rs763859389	missense variant	-	NC_000016.10:g.53675046T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met285Thr	rs772520453	missense variant	-	NC_000016.10:g.53675045A>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys288Gln	rs201110897	missense variant	-	NC_000016.10:g.53675037T>G	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln291Arg	rs1236687801	missense variant	-	NC_000016.10:g.53675027T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Gln291Ter	rs1456427699	stop gained	-	NC_000016.10:g.53675028G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Gln293Glu	rs766783686	missense variant	-	NC_000016.10:g.53675022G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg297Thr	rs550484136	missense variant	-	NC_000016.10:g.53673009C>G	1000Genomes,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg297Lys	rs550484136	missense variant	-	NC_000016.10:g.53673009C>T	1000Genomes,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr298Ile	rs1260500377	missense variant	-	NC_000016.10:g.53673006G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Ser302Gly	rs1376861368	missense variant	-	NC_000016.10:g.53672995T>C	gnomAD
RPGRIP1L	Q68CZ1	p.His303Arg	rs758129114	missense variant	-	NC_000016.10:g.53672991T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp304Asn	RCV000270824	missense variant	-	NC_000016.10:g.53672989C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Asp304Asn	rs530772984	missense variant	-	NC_000016.10:g.53672989C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp304Asn	RCV000800938	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53672989C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Ala305Thr	rs764733447	missense variant	-	NC_000016.10:g.53672986C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala305Asp	rs756562582	missense variant	-	NC_000016.10:g.53672985G>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Met307Leu	rs375940414	missense variant	-	NC_000016.10:g.53672980T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met307Ile	rs768051049	missense variant	-	NC_000016.10:g.53672978C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn314Ser	rs774832075	missense variant	-	NC_000016.10:g.53672958T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Met315Thr	rs1443412610	missense variant	-	NC_000016.10:g.53672955A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Met315Leu	rs372720935	missense variant	-	NC_000016.10:g.53672956T>G	ESP,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln316His	rs763237910	missense variant	-	NC_000016.10:g.53672951T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg321His	rs183419371	missense variant	-	NC_000016.10:g.53672937C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg321Cys	rs200702823	missense variant	-	NC_000016.10:g.53672938G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg321His	RCV000375576	missense variant	-	NC_000016.10:g.53672937C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Cys324Trp	rs1289804735	missense variant	-	NC_000016.10:g.53672927G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Cys324Ser	rs745997546	missense variant	-	NC_000016.10:g.53672928C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Cys325Ter	RCV000636961	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53672927del	ClinVar
RPGRIP1L	Q68CZ1	p.Leu327Arg	rs776680083	missense variant	-	NC_000016.10:g.53672919A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu327Phe	rs1192616333	missense variant	-	NC_000016.10:g.53672920G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Gln330Glu	rs771058410	missense variant	-	NC_000016.10:g.53672911G>C	ExAC
RPGRIP1L	Q68CZ1	p.Leu331Ser	rs1225415393	missense variant	-	NC_000016.10:g.53672907A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Ser333Phe	rs777640910	missense variant	-	NC_000016.10:g.53672901G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Met334Ile	rs1294823376	missense variant	-	NC_000016.10:g.53672897C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Met334Val	rs1182455258	missense variant	-	NC_000016.10:g.53672899T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ser337Thr	rs757924515	missense variant	-	NC_000016.10:g.53672890A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser337Phe	rs747867189	missense variant	-	NC_000016.10:g.53672889G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu338Lys	rs1300821962	missense variant	-	NC_000016.10:g.53672887C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Arg340Lys	rs1423601175	missense variant	-	NC_000016.10:g.53672880C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Gln345Ter	rs121918202	stop gained	-	NC_000016.10:g.53671580G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Gln345Ter	RCV000001128	nonsense	Meckel syndrome type 5 (MKS5)	NC_000016.10:g.53671580G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Asp350His	rs757664687	missense variant	-	NC_000016.10:g.53671565C>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu352Gly	rs1200662096	missense variant	-	NC_000016.10:g.53671558T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Glu354Gly	rs752128105	missense variant	-	NC_000016.10:g.53671552T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu354Gly	RCV000519061	missense variant	-	NC_000016.10:g.53671552T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Arg355Gln	rs758759988	missense variant	-	NC_000016.10:g.53671549C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg355Trp	rs778195218	missense variant	-	NC_000016.10:g.53671550G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu357Pro	rs1324030666	missense variant	-	NC_000016.10:g.53671543A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Leu358Ter	RCV000723141	frameshift	-	NC_000016.10:g.53671543dup	ClinVar
RPGRIP1L	Q68CZ1	p.Leu358Val	rs147295026	missense variant	-	NC_000016.10:g.53671541A>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu358Ter	RCV000474386	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53671542_53671543dup	ClinVar
RPGRIP1L	Q68CZ1	p.Asn361Asp	rs376720589	missense variant	-	NC_000016.10:g.53671532T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr362Cys	rs144023021	missense variant	-	NC_000016.10:g.53671528T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr362Cys	RCV000362256	missense variant	Nephronophthisis	NC_000016.10:g.53671528T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr362Cys	RCV000308698	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53671528T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr362Cys	RCV000272277	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53671528T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Asp363Glu	rs1448419533	missense variant	-	NC_000016.10:g.53671524A>T	gnomAD
RPGRIP1L	Q68CZ1	p.Lys364Glu	rs1404503100	missense variant	-	NC_000016.10:g.53671523T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Tyr366His	rs1427700065	missense variant	-	NC_000016.10:g.53671517A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Ser371Thr	rs369771829	missense variant	-	NC_000016.10:g.53665001C>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser371Asn	rs369771829	missense variant	-	NC_000016.10:g.53665001C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala373Asp	rs776018450	missense variant	-	NC_000016.10:g.53664995G>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala373Val	rs776018450	missense variant	-	NC_000016.10:g.53664995G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.His374Tyr	rs200773352	missense variant	-	NC_000016.10:g.53664993G>A	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His374Arg	rs748700646	missense variant	-	NC_000016.10:g.53664992T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His374Ter	RCV000229421	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53664995del	ClinVar
RPGRIP1L	Q68CZ1	p.Gln377Pro	rs753220720	missense variant	-	NC_000016.10:g.53664983T>G	TOPMed
RPGRIP1L	Q68CZ1	p.Trp378Gly	rs749735117	missense variant	-	NC_000016.10:g.53664981A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Trp378Ter	RCV000201745	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53664981del	ClinVar
RPGRIP1L	Q68CZ1	p.Lys381Asn	rs949199630	missense variant	-	NC_000016.10:g.53664970C>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu382Lys	rs756300439	missense variant	-	NC_000016.10:g.53664969C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu385Arg	rs750446830	missense variant	-	NC_000016.10:g.53664959A>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys386Glu	RCV000339807	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53664957T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Lys386Glu	RCV000697464	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53664957T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Lys386Glu	rs137982921	missense variant	-	NC_000016.10:g.53664957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys386Arg	rs1489705936	missense variant	-	NC_000016.10:g.53664956T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Lys386Glu	RCV000307599	missense variant	Nephronophthisis	NC_000016.10:g.53664957T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Lys386Glu	RCV000724780	missense variant	-	NC_000016.10:g.53664957T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Lys386Glu	RCV000401583	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53664957T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Lys386Glu	RCV000765297	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53664957T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Val387Ter	RCV000195016	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53664957dup	ClinVar
RPGRIP1L	Q68CZ1	p.Val387Glu	rs764057006	missense variant	-	NC_000016.10:g.53664953A>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln388Arg	rs181526554	missense variant	-	NC_000016.10:g.53664950T>C	1000Genomes
RPGRIP1L	Q68CZ1	p.Gln388Lys	rs762734140	missense variant	-	NC_000016.10:g.53664951G>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile389Val	RCV000558975	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53664948T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Ile389Val	rs79708859	missense variant	-	NC_000016.10:g.53664948T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile389Met	rs1271430052	missense variant	-	NC_000016.10:g.53664946A>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln391Arg	rs767581853	missense variant	-	NC_000016.10:g.53664941T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Glu393Lys	rs375776718	missense variant	-	NC_000016.10:g.53664936C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu393Gln	rs375776718	missense variant	-	NC_000016.10:g.53664936C>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr394Ile	rs1028865384	missense variant	-	NC_000016.10:g.53664932G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Ala395Val	rs1345088963	missense variant	-	NC_000016.10:g.53664929G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Lys397Thr	rs571212511	missense variant	-	NC_000016.10:g.53664923T>G	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser398Cys	rs774992231	missense variant	-	NC_000016.10:g.53664920G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp399Val	rs1169906898	missense variant	-	NC_000016.10:g.53664917T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Asp399Tyr	rs1352854864	missense variant	-	NC_000016.10:g.53664918C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Thr401Ile	rs1172509858	missense variant	-	NC_000016.10:g.53664911G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Thr401Ala	rs769340868	missense variant	-	NC_000016.10:g.53664912T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile406Thr	rs780281843	missense variant	-	NC_000016.10:g.53664896A>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile406Val	rs149234255	missense variant	-	NC_000016.10:g.53664897T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp408Glu	rs1489136375	missense variant	-	NC_000016.10:g.53664889G>T	gnomAD
RPGRIP1L	Q68CZ1	p.Asp408Gly	rs1191426587	missense variant	-	NC_000016.10:g.53664890T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu410Ter	rs1230675792	stop gained	-	NC_000016.10:g.53664884A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu410Phe	rs1203278799	missense variant	-	NC_000016.10:g.53664883T>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr412Ile	rs1458590403	missense variant	-	NC_000016.10:g.53664878G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Arg414Ser	rs756318606	missense variant	-	NC_000016.10:g.53664871T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln416Lys	rs1263265387	missense variant	-	NC_000016.10:g.53658876G>T	TOPMed
RPGRIP1L	Q68CZ1	p.Gln416Pro	rs753413251	missense variant	-	NC_000016.10:g.53658875T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Lys419Asn	rs976533506	missense variant	-	NC_000016.10:g.53658865T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Lys419Glu	rs766178470	missense variant	-	NC_000016.10:g.53658867T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val421Ile	rs138383101	missense variant	-	NC_000016.10:g.53658861C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val421Phe	rs138383101	missense variant	-	NC_000016.10:g.53658861C>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg425Gly	rs1467430359	missense variant	-	NC_000016.10:g.53658849T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Arg425Lys	rs1397824321	missense variant	-	NC_000016.10:g.53658848C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Leu427Pro	rs150099624	missense variant	-	NC_000016.10:g.53658842A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu427Gln	rs150099624	missense variant	-	NC_000016.10:g.53658842A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu429Val	rs746337296	missense variant	-	NC_000016.10:g.53658837A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Gln430Leu	rs770032567	missense variant	-	NC_000016.10:g.53658833T>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu433Lys	rs530021626	missense variant	-	NC_000016.10:g.53658825C>T	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln434Arg	rs1176573181	missense variant	-	NC_000016.10:g.53658821T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Leu438Val	rs1318779991	missense variant	-	NC_000016.10:g.53658810G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Asp439Gly	rs375983658	missense variant	-	NC_000016.10:g.53658806T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys443Asn	rs777834264	missense variant	-	NC_000016.10:g.53658793T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg444Ter	RCV000690667	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53658798dup	ClinVar
RPGRIP1L	Q68CZ1	p.Arg444Ter	RCV000727930	frameshift	-	NC_000016.10:g.53658798dup	ClinVar
RPGRIP1L	Q68CZ1	p.Arg444His	RCV000397997	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53658791C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg444Cys	rs1296403401	missense variant	-	NC_000016.10:g.53658792G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Arg444His	RCV000336182	missense variant	Nephronophthisis	NC_000016.10:g.53658791C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg444His	rs76600508	missense variant	-	NC_000016.10:g.53658791C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg444Leu	rs76600508	missense variant	-	NC_000016.10:g.53658791C>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg444His	RCV000305923	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53658791C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Ile445Val	rs140876280	missense variant	-	NC_000016.10:g.53658789T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys446Arg	rs1289666215	missense variant	-	NC_000016.10:g.53658785T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu447Ser	rs138155747	missense variant	-	NC_000016.10:g.53658782A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu447Phe	rs61743997	missense variant	-	NC_000016.10:g.53658781C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu447Met	rs753722384	missense variant	-	NC_000016.10:g.53658783A>T	ExAC
RPGRIP1L	Q68CZ1	p.Leu447Ser	RCV000223981	missense variant	-	NC_000016.10:g.53658782A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr448His	rs1397513237	missense variant	-	NC_000016.10:g.53658780A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Gln450Glu	rs749908995	missense variant	-	NC_000016.10:g.53658774G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp453Val	rs1198443260	missense variant	-	NC_000016.10:g.53658457T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Ile454Val	rs1452186837	missense variant	-	NC_000016.10:g.53658455T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ile454Ser	rs765606715	missense variant	-	NC_000016.10:g.53658454A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp457Asn	rs760095949	missense variant	-	NC_000016.10:g.53658446C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu458Lys	rs776941281	missense variant	-	NC_000016.10:g.53658443C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu458Ter	rs776941281	stop gained	-	NC_000016.10:g.53658443C>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu459Trp	rs1430832205	missense variant	-	NC_000016.10:g.53658439A>C	TOPMed
RPGRIP1L	Q68CZ1	p.Glu461Asp	rs1218959399	missense variant	-	NC_000016.10:g.53658432T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Ala462Val	rs761080809	missense variant	-	NC_000016.10:g.53658430G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu465Phe	rs758403877	missense variant	-	NC_000016.10:g.53658422G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Ile466Lys	rs199786347	missense variant	-	NC_000016.10:g.53658418A>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile466Arg	rs199786347	missense variant	-	NC_000016.10:g.53658418A>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile466Thr	rs199786347	missense variant	-	NC_000016.10:g.53658418A>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala468Thr	rs1310552754	missense variant	-	NC_000016.10:g.53657632C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Ala468Val	rs140350421	missense variant	-	NC_000016.10:g.53657631G>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln469Glu	rs773626689	missense variant	-	NC_000016.10:g.53657629G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln469Lys	rs773626689	missense variant	-	NC_000016.10:g.53657629G>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu471Lys	rs1333902843	missense variant	-	NC_000016.10:g.53657623C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln472Lys	rs1415430987	missense variant	-	NC_000016.10:g.53657620G>T	gnomAD
RPGRIP1L	Q68CZ1	p.Gln472Glu	rs1415430987	missense variant	-	NC_000016.10:g.53657620G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Lys473Asn	rs769686672	missense variant	-	NC_000016.10:g.53657615T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys473Asn	RCV000310502	missense variant	-	NC_000016.10:g.53657615T>G	ClinVar
RPGRIP1L	Q68CZ1	p.Asn474Ter	RCV000256103	frameshift	-	NC_000016.10:g.53657619del	ClinVar
RPGRIP1L	Q68CZ1	p.Gly475Arg	rs1157057714	missense variant	-	NC_000016.10:g.53657611C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Leu477Pro	rs762123566	missense variant	-	NC_000016.10:g.53657604A>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.del477SerIleTerLysIleAsnHisGlnAsnIleIleGluAsnLeu	rs1419099886	stop gained	-	NC_000016.10:g.53657605_53657606insTAAGTTTTCTATAATATTCTGATGATTTATTTTCTAAATACT	gnomAD
RPGRIP1L	Q68CZ1	p.Ser478Phe	rs372848686	missense variant	-	NC_000016.10:g.53657601G>A	ESP
RPGRIP1L	Q68CZ1	p.Val483Ala	rs146565951	missense variant	-	NC_000016.10:g.53657586A>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp484Gly	rs1021097347	missense variant	-	NC_000016.10:g.53657583T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser485Asn	rs749419261	missense variant	-	NC_000016.10:g.53657580C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu486Lys	rs1441624056	missense variant	-	NC_000016.10:g.53657578C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Asn488Asp	rs909072925	missense variant	-	NC_000016.10:g.53657572T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Asp490Val	rs1352619685	missense variant	-	NC_000016.10:g.53657565T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Asp490Glu	rs984578002	missense variant	-	NC_000016.10:g.53657564A>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu491Pro	rs1357891038	missense variant	-	NC_000016.10:g.53657562A>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu491Val	rs1241751719	missense variant	-	NC_000016.10:g.53657563G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Arg493His	rs148967550	missense variant	-	NC_000016.10:g.53657556C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg493Cys	rs775563304	missense variant	-	NC_000016.10:g.53657557G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser494Ala	RCV000484670	missense variant	-	NC_000016.10:g.53657554A>C	ClinVar
RPGRIP1L	Q68CZ1	p.Ser494Ala	rs202201818	missense variant	-	NC_000016.10:g.53657554A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser494Pro	rs202201818	missense variant	-	NC_000016.10:g.53657554A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met495Leu	rs781046784	missense variant	-	NC_000016.10:g.53657551T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met495Val	rs781046784	missense variant	-	NC_000016.10:g.53657551T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu497Ter	RCV000797386	nonsense	Joubert syndrome (JBTS)	NC_000016.10:g.53657545C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Glu497Ter	rs756821449	stop gained	-	NC_000016.10:g.53657545C>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu497Ter	RCV000365145	nonsense	-	NC_000016.10:g.53657545C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Leu498Met	rs777340505	missense variant	-	NC_000016.10:g.53657542G>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala500Glu	rs1029054579	missense variant	-	NC_000016.10:g.53657535G>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala500Thr	rs757876513	missense variant	-	NC_000016.10:g.53657536C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala500Gly	rs1029054579	missense variant	-	NC_000016.10:g.53657535G>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr505Met	rs752275762	missense variant	-	NC_000016.10:g.53657520G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu509Met	rs780528142	missense variant	-	NC_000016.10:g.53657509G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg513Gly	rs145704610	missense variant	-	NC_000016.10:g.53657497T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu516Val	rs767943403	missense variant	-	NC_000016.10:g.53657488G>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met518Val	rs762130344	missense variant	-	NC_000016.10:g.53657482T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His520Gln	rs1377168514	missense variant	-	NC_000016.10:g.53657474G>C	TOPMed
RPGRIP1L	Q68CZ1	p.Asn523Ile	rs1359160464	missense variant	-	NC_000016.10:g.53657466T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Asp525Gly	rs371841392	missense variant	-	NC_000016.10:g.53657460T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Met528Ile	RCV000333551	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53656587C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Met528Ile	rs886052097	missense variant	-	NC_000016.10:g.53656587C>T	-
RPGRIP1L	Q68CZ1	p.Met528Ile	RCV000385963	missense variant	Nephronophthisis	NC_000016.10:g.53656587C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Met528Ile	RCV000294003	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53656587C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val530Ile	rs1470256833	missense variant	-	NC_000016.10:g.53656583C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Glu531Gly	RCV000174776	missense variant	-	NC_000016.10:g.53656579T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Glu531Gly	rs794727129	missense variant	-	NC_000016.10:g.53656579T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala532Ser	rs781586792	missense variant	-	NC_000016.10:g.53656577C>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr534Ile	rs1396529919	missense variant	-	NC_000016.10:g.53656570G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Thr534Ala	rs1438758355	missense variant	-	NC_000016.10:g.53656571T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Arg535Cys	rs149781516	missense variant	-	NC_000016.10:g.53656568G>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg535Ser	rs149781516	missense variant	-	NC_000016.10:g.53656568G>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg535His	rs371028848	missense variant	-	NC_000016.10:g.53656567C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys536Gln	rs763271989	missense variant	-	NC_000016.10:g.53656565T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Met537Thr	rs752785301	missense variant	-	NC_000016.10:g.53656561A>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met537Val	rs996082143	missense variant	-	NC_000016.10:g.53656562T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Met537Leu	rs996082143	missense variant	-	NC_000016.10:g.53656562T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Glu538Lys	rs1424092711	missense variant	-	NC_000016.10:g.53656559C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Asn539Asp	rs1191220993	missense variant	-	NC_000016.10:g.53656556T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu540Val	rs1478742985	missense variant	-	NC_000016.10:g.53656553A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu540Phe	rs765430813	missense variant	-	NC_000016.10:g.53656551C>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln541Lys	rs1397929380	missense variant	-	NC_000016.10:g.53656550G>T	TOPMed
RPGRIP1L	Q68CZ1	p.Asp543Gly	rs776600721	missense variant	-	NC_000016.10:g.53656543T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp543Asn	rs748010169	missense variant	-	NC_000016.10:g.53656544C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp543Tyr	rs748010169	missense variant	-	NC_000016.10:g.53656544C>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr544Cys	rs139964287	missense variant	-	NC_000016.10:g.53656540T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr544Asp	rs770842770	missense variant	-	NC_000016.10:g.53656541A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu546Phe	rs147331527	missense variant	-	NC_000016.10:g.53656535G>A	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Leu546Phe	VAR_066479	missense variant	-	NC_000016.10:g.53656535G>A	UniProt
RPGRIP1L	Q68CZ1	p.Leu546Phe	rs147331527	missense variant	-	NC_000016.10:g.53656535G>A	ESP,gnomAD
RPGRIP1L	Q68CZ1	p.Val548Glu	rs1374790196	missense variant	-	NC_000016.10:g.53656528A>T	gnomAD
RPGRIP1L	Q68CZ1	p.Gln550Arg	rs772900011	missense variant	-	NC_000016.10:g.53656522T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr551Cys	rs1307023675	missense variant	-	NC_000016.10:g.53656519T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Tyr551Ter	rs747816609	stop gained	-	NC_000016.10:g.53656518A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.His553Asn	rs145516192	missense variant	-	NC_000016.10:g.53656514G>T	ESP,gnomAD
RPGRIP1L	Q68CZ1	p.His553Arg	rs778581201	missense variant	-	NC_000016.10:g.53656513T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu554Ile	RCV000480416	missense variant	-	NC_000016.10:g.53656511G>T	ClinVar
RPGRIP1L	Q68CZ1	p.Leu554Ile	RCV000765296	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53656511G>T	ClinVar
RPGRIP1L	Q68CZ1	p.Leu554Ile	rs79524027	missense variant	-	NC_000016.10:g.53656511G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile557Thr	rs536811482	missense variant	-	NC_000016.10:g.53656501A>G	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg561His	RCV000276180	missense variant	Nephronophthisis	NC_000016.10:g.53656489C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg561Cys	rs781713688	missense variant	-	NC_000016.10:g.53656490G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg561His	rs147366111	missense variant	-	NC_000016.10:g.53656489C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg561His	RCV000725929	missense variant	-	NC_000016.10:g.53656489C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg561His	RCV000382161	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53656489C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg561His	RCV000325211	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53656489C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Ile562Met	rs747330641	missense variant	-	NC_000016.10:g.53656485G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.His563Arg	rs1177538537	missense variant	-	NC_000016.10:g.53656483T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Lys564Glu	rs1413038780	missense variant	-	NC_000016.10:g.53656481T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Glu566Asp	rs1180428100	missense variant	-	NC_000016.10:g.53656473T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Ala567Thr	rs1265079551	missense variant	-	NC_000016.10:g.53656472C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Ala567Val	rs553739434	missense variant	-	NC_000016.10:g.53652987G>A	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln568Ter	rs1349804201	stop gained	-	NC_000016.10:g.53652985G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Lys570Arg	rs111459222	missense variant	-	NC_000016.10:g.53652978T>C	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys570Arg	RCV000636947	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652978T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Asp571Ter	RCV000168109	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53652980dup	ClinVar
RPGRIP1L	Q68CZ1	p.Asp571Ter	RCV000201673	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652980dup	ClinVar
RPGRIP1L	Q68CZ1	p.Ile572Val	rs941136020	missense variant	-	NC_000016.10:g.53652973T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr574Ter	RCV000201652	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652966del	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr574Cys	rs766404857	missense variant	-	NC_000016.10:g.53652966T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly575Asp	rs1291357029	missense variant	-	NC_000016.10:g.53652963C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Lys577Ter	RCV000723009	nonsense	-	NC_000016.10:g.53652958T>A	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr579Cys	RCV000321854	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652951T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr579Cys	rs148230131	missense variant	-	NC_000016.10:g.53652951T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr579Cys	RCV000224936	missense variant	-	NC_000016.10:g.53652951T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr579Cys	RCV000364967	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53652951T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr579Cys	RCV000272739	missense variant	Nephronophthisis	NC_000016.10:g.53652951T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Lys580Arg	rs1163810944	missense variant	-	NC_000016.10:g.53652948T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Lys582Thr	rs1369600670	missense variant	-	NC_000016.10:g.53652942T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Pro583Arg	rs548348340	missense variant	-	NC_000016.10:g.53652939G>C	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile585Thr	rs1423101482	missense variant	-	NC_000016.10:g.53652933A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Asp588Glu	rs761581572	missense variant	-	NC_000016.10:g.53652923A>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser590Thr	rs774143215	missense variant	-	NC_000016.10:g.53652919A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val591Ala	RCV000457593	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652915A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Val591Ala	RCV000765295	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53652915A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Val591Ala	rs201131571	missense variant	-	NC_000016.10:g.53652915A>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp592His	rs762543434	missense variant	-	NC_000016.10:g.53652913C>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp592Gly	rs1215288619	missense variant	-	NC_000016.10:g.53652912T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Glu593Lys	rs1351339269	missense variant	-	NC_000016.10:g.53652910C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Phe594Val	rs1277110713	missense variant	-	NC_000016.10:g.53652907A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Asp595Glu	rs775017742	missense variant	-	NC_000016.10:g.53652902A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile598Val	rs769164576	missense variant	-	NC_000016.10:g.53652895T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg602Ter	rs745413543	stop gained	-	NC_000016.10:g.53652883G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg602Gln	rs902687917	missense variant	-	NC_000016.10:g.53652882C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly603Asp	rs537925312	missense variant	-	NC_000016.10:g.53652879C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu604Lys	RCV000726350	missense variant	-	NC_000016.10:g.53652877C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu604Lys	RCV000765294	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53652877C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu604Lys	RCV000264423	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652877C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu604Lys	rs143863631	missense variant	-	NC_000016.10:g.53652877C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu604Lys	RCV000303891	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53652877C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu604Lys	RCV000361003	missense variant	Nephronophthisis	NC_000016.10:g.53652877C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Asn605Thr	rs1376182209	missense variant	-	NC_000016.10:g.53652873T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Leu606Arg	rs1357865643	missense variant	-	NC_000016.10:g.53652870A>C	TOPMed
RPGRIP1L	Q68CZ1	p.Leu606Val	rs552056656	missense variant	-	NC_000016.10:g.53652871G>C	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Phe607Ser	rs1253471713	missense variant	-	NC_000016.10:g.53652867A>G	gnomAD
RPGRIP1L	Q68CZ1	p.His610Pro	RCV000049974	missense variant	Meckel syndrome type 5 (MKS5)	NC_000016.10:g.53652858T>G	ClinVar
RPGRIP1L	Q68CZ1	p.His610Arg	rs386833997	missense variant	-	NC_000016.10:g.53652858T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His610Pro	rs386833997	missense variant	-	NC_000016.10:g.53652858T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile611Val	rs758067896	missense variant	-	NC_000016.10:g.53652856T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ile611Met	rs756141067	missense variant	-	NC_000016.10:g.53652854G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile611Thr	rs931736156	missense variant	-	NC_000016.10:g.53652855A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Val614Ile	rs750811808	missense variant	-	NC_000016.10:g.53652847C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val614Leu	rs750811808	missense variant	-	NC_000016.10:g.53652847C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr615Ile	rs751316007	missense variant	-	NC_000016.10:g.53652843G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr615Asn	rs751316007	missense variant	-	NC_000016.10:g.53652843G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr615Pro	rs121918198	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652844T>G	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Thr615Pro	VAR_039393	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652844T>G	UniProt
RPGRIP1L	Q68CZ1	p.Thr615Pro	rs121918198	missense variant	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53652844T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr615Pro	RCV000393725	missense variant	-	NC_000016.10:g.53652844T>G	ClinVar
RPGRIP1L	Q68CZ1	p.Thr615Pro	RCV000689745	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652844T>G	ClinVar
RPGRIP1L	Q68CZ1	p.Thr615Pro	RCV000001124	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652844T>G	ClinVar
RPGRIP1L	Q68CZ1	p.Glu619Ter	rs1376864105	stop gained	-	NC_000016.10:g.53652832C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Leu621Ser	rs752260669	missense variant	-	NC_000016.10:g.53652825A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln622Ter	rs759105761	stop gained	-	NC_000016.10:g.53652823G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln622Arg	rs1256127463	missense variant	-	NC_000016.10:g.53652822T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ala623Pro	rs776297522	missense variant	-	NC_000016.10:g.53652820C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly625Arg	rs1156977888	missense variant	-	NC_000016.10:g.53652814C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Asp626Gly	rs1437729375	missense variant	-	NC_000016.10:g.53652810T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Lys627Thr	rs377035693	missense variant	-	NC_000016.10:g.53652807T>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu628Gly	rs1439349181	missense variant	-	NC_000016.10:g.53652804T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Pro629Leu	rs374098422	missense variant	-	NC_000016.10:g.53652801G>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val630Ile	rs369873356	missense variant	-	NC_000016.10:g.53652799C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr631Ile	RCV000723021	missense variant	-	NC_000016.10:g.53652795G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Phe632Cys	rs1381232476	missense variant	-	NC_000016.10:g.53652792A>C	TOPMed
RPGRIP1L	Q68CZ1	p.Cys633Arg	rs898062661	missense variant	-	NC_000016.10:g.53652790A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Tyr635Ter	rs1353551542	stop gained	-	NC_000016.10:g.53652782A>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr635Cys	rs770013793	missense variant	-	NC_000016.10:g.53652783T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr635His	rs1307352779	missense variant	-	NC_000016.10:g.53652784A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Tyr638Cys	rs981992752	missense variant	-	NC_000016.10:g.53652774T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Phe640Cys	rs1339088555	missense variant	-	NC_000016.10:g.53652768A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu642Pro	rs1396819326	missense variant	-	NC_000016.10:g.53652762A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Thr644Ala	rs1286293983	missense variant	-	NC_000016.10:g.53652757T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Thr645Pro	rs1241919236	missense variant	-	NC_000016.10:g.53652754T>G	TOPMed
RPGRIP1L	Q68CZ1	p.Pro646Ser	rs1442222835	missense variant	-	NC_000016.10:g.53652751G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Val647Ile	rs145572901	missense variant	-	NC_000016.10:g.53652748C>T	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Val647Ile	VAR_066480	missense variant	-	NC_000016.10:g.53652748C>T	UniProt
RPGRIP1L	Q68CZ1	p.Val647Ile	rs145572901	missense variant	-	NC_000016.10:g.53652748C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg649Ter	rs751477523	stop gained	-	NC_000016.10:g.53652742G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg649Gln	rs560144848	missense variant	-	NC_000016.10:g.53652741C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu651Pro	rs752598081	missense variant	-	NC_000016.10:g.53652735A>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His652Arg	rs1404075819	missense variant	-	NC_000016.10:g.53652732T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Glu654Lys	RCV000300536	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53652727C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu654Lys	rs141979202	missense variant	-	NC_000016.10:g.53652727C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu654Asp	rs201737322	missense variant	-	NC_000016.10:g.53652725T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Glu654Lys	RCV000352999	missense variant	Nephronophthisis	NC_000016.10:g.53652727C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu654Lys	RCV000402360	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53652727C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Phe657Leu	rs138669723	missense variant	-	NC_000016.10:g.53652716G>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Phe657Leu	rs138669723	missense variant	-	NC_000016.10:g.53652716G>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr658Pro	rs766013946	missense variant	-	NC_000016.10:g.53652715T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser659Pro	RCV000201757	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652712A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Ser659Pro	RCV000001135	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53652712A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Ser659Pro	rs267607020	missense variant	-	NC_000016.10:g.53652712A>G	-
RPGRIP1L	Q68CZ1	p.Ser659Pro	rs267607020	missense variant	COACH syndrome (COACHS)	NC_000016.10:g.53652712A>G	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Ser659Pro	VAR_063805	missense variant	COACH syndrome (COACHS)	NC_000016.10:g.53652712A>G	UniProt
RPGRIP1L	Q68CZ1	p.Tyr661Cys	rs760297229	missense variant	-	NC_000016.10:g.53652705T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val663Leu	rs769261779	missense variant	-	NC_000016.10:g.53652700C>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val663Ile	rs769261779	missense variant	-	NC_000016.10:g.53652700C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.His664Pro	rs769962521	missense variant	-	NC_000016.10:g.53652696T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His664Asp	rs763167296	missense variant	-	NC_000016.10:g.53652697G>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His664Arg	rs769962521	missense variant	-	NC_000016.10:g.53652696T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val665Ile	rs746110135	missense variant	-	NC_000016.10:g.53652694C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp667Gly	rs530081433	missense variant	-	NC_000016.10:g.53652687T>C	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu670Trp	rs770966810	missense variant	-	NC_000016.10:g.53652678A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln671Ter	rs747181202	stop gained	-	NC_000016.10:g.53652676G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln671Arg	rs913835653	missense variant	-	NC_000016.10:g.53652675T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr672Cys	rs1203965149	missense variant	-	NC_000016.10:g.53652672T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Ile673Asn	rs150151416	missense variant	-	NC_000016.10:g.53652669A>T	ESP,gnomAD
RPGRIP1L	Q68CZ1	p.Ile673Ser	rs150151416	missense variant	-	NC_000016.10:g.53652669A>C	ESP,gnomAD
RPGRIP1L	Q68CZ1	p.Thr677Ile	RCV000174928	missense variant	-	NC_000016.10:g.53652657G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Thr677Ala	rs966858228	missense variant	-	NC_000016.10:g.53652658T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Thr677Ile	rs532768944	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652657G>A	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Thr677Ile	VAR_039394	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652657G>A	UniProt
RPGRIP1L	Q68CZ1	p.Thr677Ile	rs532768944	missense variant	-	NC_000016.10:g.53652657G>A	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile678Val	rs958116016	missense variant	-	NC_000016.10:g.53652655T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile678Leu	rs958116016	missense variant	-	NC_000016.10:g.53652655T>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu680Phe	rs758370789	missense variant	-	NC_000016.10:g.53652649G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val682Gly	rs1248595505	missense variant	-	NC_000016.10:g.53652642A>C	TOPMed
RPGRIP1L	Q68CZ1	p.Gln684Ter	RCV000824619	nonsense	Joubert syndrome (JBTS)	NC_000016.10:g.53652637G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Gln684Ter	rs121918204	stop gained	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53652637G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln684Ter	RCV000001131	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652637G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Gln684Ter	RCV000762962	nonsense	COACH syndrome (CC2D2A)	NC_000016.10:g.53652637G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Tyr690Cys	rs1218245231	missense variant	-	NC_000016.10:g.53652618T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Thr692Pro	rs1271979588	missense variant	-	NC_000016.10:g.53652613T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Ile693Val	rs753522757	missense variant	-	NC_000016.10:g.53652610T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile693Thr	rs766197081	missense variant	-	NC_000016.10:g.53652609A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala695Glu	rs749960302	missense variant	-	NC_000016.10:g.53652603G>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala695Pro	RCV000001126	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652604C>G	ClinVar
RPGRIP1L	Q68CZ1	p.Ala695Pro	rs121918200	missense variant	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53652604C>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala695Pro	rs121918200	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652604C>G	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Ala695Pro	VAR_039395	missense variant	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53652604C>G	UniProt
RPGRIP1L	Q68CZ1	p.Ala695Thr	rs121918200	missense variant	Joubert syndrome 7 (jbts7)	NC_000016.10:g.53652604C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln697Arg	rs1396387199	missense variant	-	NC_000016.10:g.53652597T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu698Ter	rs201081228	stop gained	-	NC_000016.10:g.53652594A>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys699Arg	rs764289143	missense variant	-	NC_000016.10:g.53652591T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Lys699Thr	rs764289143	missense variant	-	NC_000016.10:g.53652591T>G	TOPMed
RPGRIP1L	Q68CZ1	p.Glu702Gly	rs193282093	missense variant	-	NC_000016.10:g.53652582T>C	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu702Lys	rs199975230	missense variant	-	NC_000016.10:g.53652583C>T	1000Genomes,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu704Pro	rs1246580946	missense variant	-	NC_000016.10:g.53652576A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Glu705Gly	rs1345120923	missense variant	-	NC_000016.10:g.53652573T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Glu705Ter	rs1194791522	stop gained	-	NC_000016.10:g.53652574C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Lys706Asn	rs759934290	missense variant	-	NC_000016.10:g.53652569T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys706Thr	rs1429164270	missense variant	-	NC_000016.10:g.53652570T>G	TOPMed
RPGRIP1L	Q68CZ1	p.Lys706Thr	RCV000729047	missense variant	-	NC_000016.10:g.53652570T>G	ClinVar
RPGRIP1L	Q68CZ1	p.Ser707Asn	rs151281974	missense variant	-	NC_000016.10:g.53652567C>T	ESP,ExAC,TOPMed
RPGRIP1L	Q68CZ1	p.Ser707Ile	rs151281974	missense variant	-	NC_000016.10:g.53652567C>A	ESP,ExAC,TOPMed
RPGRIP1L	Q68CZ1	p.Gly708Ser	rs565152814	missense variant	-	NC_000016.10:g.53652565C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg709Gln	rs74396053	missense variant	-	NC_000016.10:g.53652561C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg709Ter	rs1037406858	stop gained	-	NC_000016.10:g.53652562G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg709Leu	rs74396053	missense variant	-	NC_000016.10:g.53652561C>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile710Met	rs748143379	missense variant	-	NC_000016.10:g.53652557T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile710Val	rs1217480617	missense variant	-	NC_000016.10:g.53652559T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Thr713Ala	rs1486084514	missense variant	-	NC_000016.10:g.53652550T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ala714Gly	rs1243570373	missense variant	-	NC_000016.10:g.53652546G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Thr719Lys	rs1420264871	missense variant	-	NC_000016.10:g.53649112G>T	gnomAD
RPGRIP1L	Q68CZ1	p.Lys720Glu	rs773725787	missense variant	-	NC_000016.10:g.53649110T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys720Arg	rs749021782	missense variant	-	NC_000016.10:g.53649109T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gly721Arg	rs780023355	missense variant	-	NC_000016.10:g.53649107C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile723Val	rs769280712	missense variant	-	NC_000016.10:g.53649101T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro724Gln	rs1487358613	missense variant	-	NC_000016.10:g.53649097G>T	gnomAD
RPGRIP1L	Q68CZ1	p.Asn725Asp	RCV000636953	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53649095T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Asn725Asp	rs373201651	missense variant	-	NC_000016.10:g.53649095T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Phe726Ile	rs780747718	missense variant	-	NC_000016.10:g.53649092A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Trp732Gly	rs756787466	missense variant	-	NC_000016.10:g.53649074A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg734Gln	RCV000349758	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53649067C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg734Gln	rs117364872	missense variant	-	NC_000016.10:g.53649067C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg734Ter	RCV000484741	nonsense	-	NC_000016.10:g.53649068G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Arg734Ter	rs751128300	stop gained	-	NC_000016.10:g.53649068G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg734Gln	RCV000734409	missense variant	-	NC_000016.10:g.53649067C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg734Gln	RCV000292443	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53649067C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg734Gln	RCV000390519	missense variant	Nephronophthisis	NC_000016.10:g.53649067C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg736Gly	rs1354385640	missense variant	-	NC_000016.10:g.53649062T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Asp740Tyr	rs755481580	missense variant	-	NC_000016.10:g.53649050C>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg744Gln	RCV000288192	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53649037C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg744Gln	RCV000394341	missense variant	Nephronophthisis	NC_000016.10:g.53649037C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg744Gln	RCV000345607	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53649037C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg744Ter	rs267604575	stop gained	-	NC_000016.10:g.53649038G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg744Gln	rs2302677	missense variant	-	NC_000016.10:g.53649037C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg744Leu	rs2302677	missense variant	-	NC_000016.10:g.53649037C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg744Gln	rs2302677	missense variant	-	NC_000016.10:g.53649037C>T	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Arg744Gln	VAR_039396	missense variant	-	NC_000016.10:g.53649037C>T	UniProt
RPGRIP1L	Q68CZ1	p.Tyr746Cys	rs750631908	missense variant	-	NC_000016.10:g.53649031T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr746Asp	rs760997992	missense variant	-	NC_000016.10:g.53649032A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg747Ter	rs767686118	stop gained	-	NC_000016.10:g.53649029G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg747Gln	rs142349647	missense variant	-	NC_000016.10:g.53649028C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg747Gly	rs767686118	missense variant	-	NC_000016.10:g.53649029G>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg747Gln	RCV000153059	missense variant	-	NC_000016.10:g.53649028C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu748Lys	rs1475089401	missense variant	-	NC_000016.10:g.53649026C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Arg749Lys	rs774573573	missense variant	-	NC_000016.10:g.53649022C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala750Val	rs1190319973	missense variant	-	NC_000016.10:g.53649019G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Lys751Arg	rs1311281083	missense variant	-	NC_000016.10:g.53649016T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Lys751Gln	rs1447666802	missense variant	-	NC_000016.10:g.53649017T>G	TOPMed
RPGRIP1L	Q68CZ1	p.Ala752Ser	rs1477004956	missense variant	-	NC_000016.10:g.53649014C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Gly754Arg	rs763005144	missense variant	-	NC_000016.10:g.53649008C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile756Thr	rs1262455268	missense variant	-	NC_000016.10:g.53649001A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Thr757Ter	RCV000001132	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53649000del	ClinVar
RPGRIP1L	Q68CZ1	p.Ser758Pro	rs1278157548	missense variant	-	NC_000016.10:g.53648996A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Lys761Glu	rs1219025906	missense variant	-	NC_000016.10:g.53648987T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Gln767Ter	rs1326042797	stop gained	-	NC_000016.10:g.53648969G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Gln767His	rs1338012833	missense variant	-	NC_000016.10:g.53648967C>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln767Ter	RCV000578780	nonsense	-	NC_000016.10:g.53648969G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Ser768Leu	rs542206983	missense variant	-	NC_000016.10:g.53648965G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser768Ter	rs542206983	stop gained	-	NC_000016.10:g.53648965G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu769Val	rs746692718	missense variant	-	NC_000016.10:g.53646003A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser770Arg	rs772889000	missense variant	-	NC_000016.10:g.53646000T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln771Arg	rs1211013178	missense variant	-	NC_000016.10:g.53645996T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Thr776Ile	RCV000324463	missense variant	Nephronophthisis	NC_000016.10:g.53645981G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Thr776Ile	RCV000267342	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53645981G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Thr776Ile	rs771545136	missense variant	-	NC_000016.10:g.53645981G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr776Ile	RCV000376696	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53645981G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Ser780Cys	rs1434361979	missense variant	-	NC_000016.10:g.53645970T>A	TOPMed
RPGRIP1L	Q68CZ1	p.Thr782Ala	rs1249630167	missense variant	-	NC_000016.10:g.53645964T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser784Cys	rs1196015536	missense variant	-	NC_000016.10:g.53645957G>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly787Ala	rs996587890	missense variant	-	NC_000016.10:g.53645948C>G	TOPMed
RPGRIP1L	Q68CZ1	p.Gly787Asp	rs996587890	missense variant	-	NC_000016.10:g.53645948C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Asn788Tyr	rs747710245	missense variant	-	NC_000016.10:g.53645946T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asn788Lys	rs746197640	missense variant	-	NC_000016.10:g.53645944G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn788Ile	rs780547927	missense variant	-	NC_000016.10:g.53645945T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asn790Ser	rs1456928272	missense variant	-	NC_000016.10:g.53645939T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Ile794Val	rs781443815	missense variant	-	NC_000016.10:g.53645928T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Thr795Ile	rs757738089	missense variant	-	NC_000016.10:g.53645924G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Thr795Ala	rs1393329540	missense variant	-	NC_000016.10:g.53645925T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ile796Lys	rs751810873	missense variant	-	NC_000016.10:g.53645921A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile796Met	rs764469041	missense variant	-	NC_000016.10:g.53645920T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg797Ile	rs892392514	missense variant	-	NC_000016.10:g.53645918C>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn800His	rs752724338	missense variant	-	NC_000016.10:g.53645910T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asn800Thr	rs147734438	missense variant	-	NC_000016.10:g.53645909T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn800Ser	rs147734438	missense variant	-	NC_000016.10:g.53645909T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His801Tyr	rs759412548	missense variant	-	NC_000016.10:g.53645907G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His801Arg	rs776444293	missense variant	-	NC_000016.10:g.53645906T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His801Pro	rs776444293	missense variant	-	NC_000016.10:g.53645906T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg805Gln	RCV000316530	missense variant	Nephronophthisis	NC_000016.10:g.53645894C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg805Gln	RCV000355000	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53645894C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg805Ter	rs145665129	stop gained	-	NC_000016.10:g.53645895G>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg805Gln	rs532412372	missense variant	-	NC_000016.10:g.53645894C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg805Ter	RCV000001134	nonsense	COACH syndrome (CC2D2A)	NC_000016.10:g.53645895G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Arg805Ter	RCV000733537	nonsense	-	NC_000016.10:g.53645895G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Arg805Ter	RCV000201645	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53645895G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Arg805Gln	RCV000263635	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53645894C>T	ClinVar
RPGRIP1L	Q68CZ1	p.His808Asn	rs535131999	missense variant	-	NC_000016.10:g.53645886G>T	TOPMed
RPGRIP1L	Q68CZ1	p.His808Tyr	rs535131999	missense variant	-	NC_000016.10:g.53645886G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Leu809Val	RCV000598116	missense variant	-	NC_000016.10:g.53645883G>C	ClinVar
RPGRIP1L	Q68CZ1	p.Leu809Val	rs370180090	missense variant	-	NC_000016.10:g.53645883G>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His812Tyr	rs1258535136	missense variant	-	NC_000016.10:g.53645874G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Tyr814Cys	rs773760213	missense variant	-	NC_000016.10:g.53645867T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr817Ter	rs145807002	stop gained	-	NC_000016.10:g.53645857G>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr817Ter	RCV000760815	nonsense	-	NC_000016.10:g.53645857G>C	ClinVar
RPGRIP1L	Q68CZ1	p.Lys818Glu	rs757684695	missense variant	-	NC_000016.10:g.53645856T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp821Asn	rs377377380	missense variant	-	NC_000016.10:g.53645847C>T	ESP,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp821Tyr	rs377377380	missense variant	-	NC_000016.10:g.53645847C>A	ESP,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp821Gly	rs758706358	missense variant	-	NC_000016.10:g.53645846T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Phe822Ser	rs1156640840	missense variant	-	NC_000016.10:g.53645843A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Ala823Val	rs932933680	missense variant	-	NC_000016.10:g.53645840G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala823Ser	rs1051268898	missense variant	-	NC_000016.10:g.53645841C>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His825Arg	rs752772082	missense variant	-	NC_000016.10:g.53645834T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp826Asn	rs746015353	missense variant	-	NC_000016.10:g.53645832C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala828Asp	rs755123128	missense variant	-	NC_000016.10:g.53645825G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala828Asp	RCV000193027	missense variant	-	NC_000016.10:g.53645825G>T	ClinVar
RPGRIP1L	Q68CZ1	p.Ser833Ile	rs375358825	missense variant	-	NC_000016.10:g.53645810C>A	ESP,TOPMed
RPGRIP1L	Q68CZ1	p.Asp840Val	rs949487941	missense variant	-	NC_000016.10:g.53645789T>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp840Gly	rs949487941	missense variant	-	NC_000016.10:g.53645789T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His841Arg	rs766357656	missense variant	-	NC_000016.10:g.53645786T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.His841Asp	rs1333161965	missense variant	-	NC_000016.10:g.53645787G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Phe844Leu	rs760455293	missense variant	-	NC_000016.10:g.53645776G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Pro845Leu	rs974340563	missense variant	-	NC_000016.10:g.53645774G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Val846Ala	RCV000390525	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53645771A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Val846Ala	rs750235612	missense variant	-	NC_000016.10:g.53645771A>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val846Ala	RCV000313216	missense variant	Nephronophthisis	NC_000016.10:g.53645771A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Val846Ala	RCV000356290	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53645771A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Met848Lys	rs1325721033	missense variant	-	NC_000016.10:g.53645765A>T	gnomAD
RPGRIP1L	Q68CZ1	p.Met848Ile	rs1318910206	missense variant	-	NC_000016.10:g.53645764C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Met848Val	rs767112083	missense variant	-	NC_000016.10:g.53645766T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met850Val	rs1323211982	missense variant	-	NC_000016.10:g.53645760T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Asp851Gly	rs761406856	missense variant	-	NC_000016.10:g.53645756T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp851Val	rs761406856	missense variant	-	NC_000016.10:g.53645756T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu852Phe	rs1392008694	missense variant	-	NC_000016.10:g.53645752C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Asp853Val	rs1221830575	missense variant	-	NC_000016.10:g.53645750T>A	TOPMed
RPGRIP1L	Q68CZ1	p.Arg854Gln	rs867090245	missense variant	-	NC_000016.10:g.53645747C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Arg854Ter	rs770291169	stop gained	-	NC_000016.10:g.53645748G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Arg854Leu	rs867090245	missense variant	-	NC_000016.10:g.53645747C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Tyr855Ter	rs886052096	stop gained	-	NC_000016.10:g.53645743G>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr855His	rs1290419108	missense variant	-	NC_000016.10:g.53645745A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Leu856Phe	rs774095133	missense variant	-	NC_000016.10:g.53645742G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Lys857Asn	rs149833407	missense variant	-	NC_000016.10:g.53645737C>G	ESP,TOPMed
RPGRIP1L	Q68CZ1	p.Ser860Cys	rs768030202	missense variant	-	NC_000016.10:g.53645729G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr864Cys	rs747319156	missense variant	-	NC_000016.10:g.53645717T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr864His	rs1480250597	missense variant	-	NC_000016.10:g.53645718A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Thr871Pro	rs772377772	missense variant	-	NC_000016.10:g.53645697T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln872Arg	rs754997198	missense variant	-	NC_000016.10:g.53645693T>C	ExAC
RPGRIP1L	Q68CZ1	p.Gln872Ter	rs121918203	stop gained	-	NC_000016.10:g.53645694G>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln872Ter	RCV000762961	nonsense	COACH syndrome (CC2D2A)	NC_000016.10:g.53645694G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Glu873Lys	rs368106167	missense variant	-	NC_000016.10:g.53645691C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu873Asp	rs1424624795	missense variant	-	NC_000016.10:g.53645689C>A	TOPMed
RPGRIP1L	Q68CZ1	p.Ile877Thr	rs756072167	missense variant	-	NC_000016.10:g.53645678A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile877Val	rs779895977	missense variant	-	NC_000016.10:g.53645679T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val880Ala	rs750182396	missense variant	-	NC_000016.10:g.53645669A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asn881Ter	RCV000344571	frameshift	-	NC_000016.10:g.53645638_53645666del	ClinVar
RPGRIP1L	Q68CZ1	p.Asn881Ser	rs377404824	missense variant	-	NC_000016.10:g.53645666T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn881Lys	rs139503476	missense variant	-	NC_000016.10:g.53645665A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asn881Lys	RCV000514096	missense variant	-	NC_000016.10:g.53645665A>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val882Met	rs763875453	missense variant	-	NC_000016.10:g.53645664C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser886Leu	rs762304207	missense variant	-	NC_000016.10:g.53645651G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His889Asn	rs193052266	missense variant	-	NC_000016.10:g.53645643G>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His889Arg	rs1228542037	missense variant	-	NC_000016.10:g.53645642T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Asp890Gly	rs546732202	missense variant	-	NC_000016.10:g.53645639T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg891Lys	rs200531735	missense variant	-	NC_000016.10:g.53645636C>T	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile893Phe	rs748601161	missense variant	-	NC_000016.10:g.53645631T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile896Leu	rs1441761004	missense variant	-	NC_000016.10:g.53641473T>G	TOPMed
RPGRIP1L	Q68CZ1	p.Glu898Lys	rs762013869	missense variant	-	NC_000016.10:g.53641467C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.His902Asn	rs1335669127	missense variant	-	NC_000016.10:g.53641455G>T	gnomAD
RPGRIP1L	Q68CZ1	p.Lys904Arg	rs749485146	missense variant	-	NC_000016.10:g.53641448T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Lys904Asn	rs376893062	missense variant	-	NC_000016.10:g.53641447C>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His905Leu	rs769854611	missense variant	-	NC_000016.10:g.53641445T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Pro906Ser	rs727503875	missense variant	-	NC_000016.10:g.53641443G>A	-
RPGRIP1L	Q68CZ1	p.Pro906Ser	RCV000153058	missense variant	-	NC_000016.10:g.53641443G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Ala907Gly	rs1265005618	missense variant	-	NC_000016.10:g.53641439G>C	TOPMed
RPGRIP1L	Q68CZ1	p.Gly908Asp	rs1478290807	missense variant	-	NC_000016.10:g.53641436C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Thr909Ala	rs1158781350	missense variant	-	NC_000016.10:g.53641434T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ile910Met	rs746015651	missense variant	-	NC_000016.10:g.53641429G>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile910Thr	rs1401652634	missense variant	-	NC_000016.10:g.53641430A>G	gnomAD
RPGRIP1L	Q68CZ1	p.His911Arg	rs1391430738	missense variant	-	NC_000016.10:g.53641427T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ile913Val	rs1258275030	missense variant	-	NC_000016.10:g.53641422T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu914Trp	rs1371534974	missense variant	-	NC_000016.10:g.53641418A>C	TOPMed
RPGRIP1L	Q68CZ1	p.Trp916Arg	rs935905722	missense variant	-	NC_000016.10:g.53641413A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Leu921Val	rs752374495	missense variant	-	NC_000016.10:g.53641398G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu921Phe	rs752374495	missense variant	-	NC_000016.10:g.53641398G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Pro923Ser	rs572508334	missense variant	-	NC_000016.10:g.53641392G>A	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro923Ala	rs572508334	missense variant	-	NC_000016.10:g.53641392G>C	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser924Asn	rs142234650	missense variant	-	NC_000016.10:g.53641388C>T	1000Genomes,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser924Thr	rs142234650	missense variant	-	NC_000016.10:g.53641388C>G	1000Genomes,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser924Arg	rs753399833	missense variant	-	NC_000016.10:g.53641389T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly925Glu	rs1354484682	missense variant	-	NC_000016.10:g.53641385C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Ile927Val	rs1397297818	missense variant	-	NC_000016.10:g.53641380T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Thr928Ala	rs369041621	missense variant	-	NC_000016.10:g.53641377T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr929Ala	rs1399746502	missense variant	-	NC_000016.10:g.53641374T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Thr929Ile	rs762417689	missense variant	-	NC_000016.10:g.53641373G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu930Ala	RCV000466692	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53641370T>G	ClinVar
RPGRIP1L	Q68CZ1	p.Glu930Ala	rs374694596	missense variant	-	NC_000016.10:g.53641370T>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu932Ter	RCV000459856	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53641364_53641365del	ClinVar
RPGRIP1L	Q68CZ1	p.Phe935Leu	rs1274851334	missense variant	-	NC_000016.10:g.53641356A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Ile936Ser	rs146197239	missense variant	-	NC_000016.10:g.53641352A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile936Val	rs763369161	missense variant	-	NC_000016.10:g.53641353T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile936Phe	rs763369161	missense variant	-	NC_000016.10:g.53641353T>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile936Ser	RCV000194076	missense variant	-	NC_000016.10:g.53641352A>C	ClinVar
RPGRIP1L	Q68CZ1	p.Arg937His	rs776795273	missense variant	-	NC_000016.10:g.53641349C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg937Cys	rs745890092	missense variant	-	NC_000016.10:g.53641350G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg937Leu	rs776795273	missense variant	-	NC_000016.10:g.53641349C>A	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Arg937Leu	VAR_066481	missense variant	-	NC_000016.10:g.53641349C>A	UniProt
RPGRIP1L	Q68CZ1	p.Arg937Leu	rs776795273	missense variant	-	NC_000016.10:g.53641349C>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser938Arg	rs192512050	missense variant	-	NC_000016.10:g.53641345G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser938Thr	rs770732397	missense variant	-	NC_000016.10:g.53641346C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu939Lys	RCV000414436	missense variant	-	NC_000016.10:g.53641344C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu939Lys	rs371763050	missense variant	-	NC_000016.10:g.53641344C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro941Leu	rs748020146	missense variant	-	NC_000016.10:g.53641337G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val944Ter	RCV000778468	frameshift	RPGRIP1L-Related Disorders	NC_000016.10:g.53641331del	ClinVar
RPGRIP1L	Q68CZ1	p.Gln945Arg	rs1333651499	missense variant	-	NC_000016.10:g.53641325T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Gln945Ter	rs79833796	stop gained	-	NC_000016.10:g.53641326G>A	ESP,TOPMed
RPGRIP1L	Q68CZ1	p.Gln945Lys	rs79833796	missense variant	-	NC_000016.10:g.53641326G>T	ESP,TOPMed
RPGRIP1L	Q68CZ1	p.Leu947Phe	rs576417383	missense variant	-	NC_000016.10:g.53641320G>A	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu947Ile	rs576417383	missense variant	-	NC_000016.10:g.53641320G>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro948Arg	rs561327446	missense variant	-	NC_000016.10:g.53641316G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Pro948Leu	rs561327446	missense variant	-	NC_000016.10:g.53641316G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Pro948Ser	rs1486116698	missense variant	-	NC_000016.10:g.53641317G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Ser952Phe	rs1324256125	missense variant	-	NC_000016.10:g.53641304G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Val953Ile	rs764578359	missense variant	-	NC_000016.10:g.53641302C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser954Arg	rs1460721656	missense variant	-	NC_000016.10:g.53641297G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Leu956Pro	rs1161014573	missense variant	-	NC_000016.10:g.53641292A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Ala959Val	rs1205182135	missense variant	-	NC_000016.10:g.53641115G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Pro960Ser	rs1187280209	missense variant	-	NC_000016.10:g.53641113G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Arg961Lys	rs1416722227	missense variant	-	NC_000016.10:g.53641109C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Pro962Leu	rs141842001	missense variant	-	NC_000016.10:g.53641106G>A	ESP
RPGRIP1L	Q68CZ1	p.Pro964Leu	rs1277659338	missense variant	-	NC_000016.10:g.53641100G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Arg965Lys	rs374721066	missense variant	-	NC_000016.10:g.53641097C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg967His	rs754075998	missense variant	-	NC_000016.10:g.53641091C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg967Cys	rs759942433	missense variant	-	NC_000016.10:g.53641092G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp972Asn	rs138777811	missense variant	-	NC_000016.10:g.53641077C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys974Ter	rs1353809695	stop gained	-	NC_000016.10:g.53641071T>A	TOPMed
RPGRIP1L	Q68CZ1	p.Val975Ile	rs773177044	missense variant	-	NC_000016.10:g.53641068C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser976Thr	RCV000262202	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53641065A>T	ClinVar
RPGRIP1L	Q68CZ1	p.Ser976Thr	RCV000319864	missense variant	Nephronophthisis	NC_000016.10:g.53641065A>T	ClinVar
RPGRIP1L	Q68CZ1	p.Ser976Thr	RCV000387058	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53641065A>T	ClinVar
RPGRIP1L	Q68CZ1	p.Ser976Thr	rs886052095	missense variant	-	NC_000016.10:g.53641065A>T	gnomAD
RPGRIP1L	Q68CZ1	p.Val978Met	RCV000764075	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53641059C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val978Met	rs367845452	missense variant	-	NC_000016.10:g.53641059C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val978Met	RCV000636960	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53641059C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Asp979Tyr	rs370687136	missense variant	-	NC_000016.10:g.53641056C>A	ESP,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile980Ter	RCV000636955	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53641052del	ClinVar
RPGRIP1L	Q68CZ1	p.Met981Val	rs749106345	missense variant	-	NC_000016.10:g.53641050T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.His983Pro	rs1186634871	missense variant	-	NC_000016.10:g.53641043T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Gln984His	rs775144757	missense variant	-	NC_000016.10:g.53641039C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln984Arg	rs1443460820	missense variant	-	NC_000016.10:g.53641040T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Asp986His	rs1203696547	missense variant	-	NC_000016.10:g.53641035C>G	gnomAD
RPGRIP1L	Q68CZ1	p.Glu987Lys	rs1467277908	missense variant	-	NC_000016.10:g.53638411C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Thr988Asn	rs775171959	missense variant	-	NC_000016.10:g.53638407G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr988Ile	rs775171959	missense variant	-	NC_000016.10:g.53638407G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser989Tyr	rs769448029	missense variant	-	NC_000016.10:g.53638404G>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Pro992Ser	rs1225129455	missense variant	-	NC_000016.10:g.53638396G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Glu993Ala	rs745480425	missense variant	-	NC_000016.10:g.53638392T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu997Lys	rs1391752720	missense variant	-	NC_000016.10:g.53638381C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Glu997Asp	rs1467519858	missense variant	-	NC_000016.10:g.53638379T>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile998Val	rs776313021	missense variant	-	NC_000016.10:g.53638378T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile998Ter	RCV000609113	frameshift	Joubert syndrome (JBTS)	NC_000016.10:g.53638380del	ClinVar
RPGRIP1L	Q68CZ1	p.Ser999Leu	rs770414663	missense variant	-	NC_000016.10:g.53638374G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1001Val	rs1475344595	missense variant	-	NC_000016.10:g.53638368T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Glu1001Gln	rs1335757648	missense variant	-	NC_000016.10:g.53638369C>G	TOPMed
RPGRIP1L	Q68CZ1	p.Val1002Ile	rs965006608	missense variant	-	NC_000016.10:g.53638366C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Val1002Leu	rs965006608	missense variant	-	NC_000016.10:g.53638366C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Glu1003Lys	rs746586531	missense variant	-	NC_000016.10:g.53638363C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1003Gly	rs779323809	missense variant	-	NC_000016.10:g.53638362T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.His1004Tyr	rs574430009	missense variant	-	NC_000016.10:g.53638360G>A	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.His1004Arg	rs749613626	missense variant	-	NC_000016.10:g.53638359T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His1004Leu	rs749613626	missense variant	-	NC_000016.10:g.53638359T>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1005Thr	rs1282363642	missense variant	-	NC_000016.10:g.53638356A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Ile1005Val	rs780310164	missense variant	-	NC_000016.10:g.53638357T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1005Met	rs1270913164	missense variant	-	NC_000016.10:g.53638355T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Pro1006Thr	rs756538968	missense variant	-	NC_000016.10:g.53638354G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro1006Ser	rs756538968	missense variant	-	NC_000016.10:g.53638354G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1008Met	rs767920573	missense variant	-	NC_000016.10:g.53638346T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1008Val	rs750665065	missense variant	-	NC_000016.10:g.53638348T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Thr1014Ala	rs757343133	missense variant	-	NC_000016.10:g.53638330T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Pro1016Ser	rs1339763900	missense variant	-	NC_000016.10:g.53638324G>A	TOPMed
RPGRIP1L	Q68CZ1	p.His1017Arg	rs764044965	missense variant	-	NC_000016.10:g.53638320T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.His1017Leu	rs764044965	missense variant	-	NC_000016.10:g.53638320T>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys1020Gln	rs1436719461	missense variant	-	NC_000016.10:g.53638312T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Val1021Ile	rs552123467	missense variant	-	NC_000016.10:g.53637854C>T	1000Genomes
RPGRIP1L	Q68CZ1	p.Gln1023Glu	rs1483413866	missense variant	-	NC_000016.10:g.53637848G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Gly1025Ser	rs2111119	missense variant	-	NC_000016.10:g.53637842C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly1025Ser	rs2111119	missense variant	-	NC_000016.10:g.53637842C>T	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Gly1025Ser	VAR_039397	missense variant	-	NC_000016.10:g.53637842C>T	UniProt
RPGRIP1L	Q68CZ1	p.Gly1025Ser	RCV000114218	missense variant	-	NC_000016.10:g.53637842C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val1027Ile	rs1345699587	missense variant	-	NC_000016.10:g.53637836C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Glu1029Val	rs1219616722	missense variant	-	NC_000016.10:g.53637829T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Glu1032Gln	rs1277423020	missense variant	-	NC_000016.10:g.53637821C>G	gnomAD
RPGRIP1L	Q68CZ1	p.Asn1033Tyr	rs1350534827	missense variant	-	NC_000016.10:g.53637818T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Thr1034Ile	rs780672507	missense variant	-	NC_000016.10:g.53637814G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr1034Pro	rs1433352074	missense variant	-	NC_000016.10:g.53637815T>G	gnomAD
RPGRIP1L	Q68CZ1	p.Thr1034Asn	rs780672507	missense variant	-	NC_000016.10:g.53637814G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1035Lys	rs770051696	missense variant	-	NC_000016.10:g.53637812C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1035Ter	rs770051696	stop gained	-	NC_000016.10:g.53637812C>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Met1037Ile	rs1406319216	missense variant	-	NC_000016.10:g.53637804C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Gln1039Arg	rs181022346	missense variant	-	NC_000016.10:g.53637799T>C	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Lys1041Ter	rs1456208953	stop gained	-	NC_000016.10:g.53637794T>A	TOPMed
RPGRIP1L	Q68CZ1	p.Asp1042Gly	rs757576557	missense variant	-	NC_000016.10:g.53637790T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1042His	rs1170190799	missense variant	-	NC_000016.10:g.53637791C>G	TOPMed
RPGRIP1L	Q68CZ1	p.Asp1043Tyr	rs777685428	missense variant	-	NC_000016.10:g.53637788C>A	ExAC
RPGRIP1L	Q68CZ1	p.Asp1043Asn	rs777685428	missense variant	-	NC_000016.10:g.53637788C>T	ExAC
RPGRIP1L	Q68CZ1	p.Ser1045Cys	rs1429389959	missense variant	-	NC_000016.10:g.53637781G>C	TOPMed
RPGRIP1L	Q68CZ1	p.Ser1048Tyr	rs971748450	missense variant	-	NC_000016.10:g.53637772G>T	gnomAD
RPGRIP1L	Q68CZ1	p.Ser1048Phe	rs971748450	missense variant	-	NC_000016.10:g.53637772G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Gly1050Ser	rs752562921	missense variant	-	NC_000016.10:g.53637767C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1051His	RCV000303220	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53637762C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Gln1051His	rs886052094	missense variant	-	NC_000016.10:g.53637762C>A	-
RPGRIP1L	Q68CZ1	p.Gln1051His	RCV000342957	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53637762C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Gln1051His	RCV000401516	missense variant	Nephronophthisis	NC_000016.10:g.53637762C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Leu1052Arg	rs540177010	missense variant	-	NC_000016.10:g.53637760A>C	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu1057Phe	rs753642494	missense variant	-	NC_000016.10:g.53637744C>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1058Ser	rs765964361	missense variant	-	NC_000016.10:g.53637743C>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1058Gly	rs760347218	missense variant	-	NC_000016.10:g.53637742G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser1060Phe	RCV000334324	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53637736G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Ser1060Phe	rs371616177	missense variant	-	NC_000016.10:g.53637736G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser1060Phe	RCV000400874	missense variant	Nephronophthisis	NC_000016.10:g.53637736G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Ser1060Phe	RCV000304399	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53637736G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Glu1063Ter	rs1057520162	stop gained	-	NC_000016.10:g.53637728C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Glu1063Ter	RCV000425777	nonsense	-	NC_000016.10:g.53637728C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Ile1066Val	rs1457919032	missense variant	-	NC_000016.10:g.53637719T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Glu1068Ala	rs372404481	missense variant	-	NC_000016.10:g.53637712T>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1068Lys	rs771457754	missense variant	-	NC_000016.10:g.53637713C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1068Gly	rs372404481	missense variant	-	NC_000016.10:g.53637712T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1069Gly	rs200726671	missense variant	-	NC_000016.10:g.53637709T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1071Lys	RCV000206114	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53637704C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Glu1071Lys	rs864622470	missense variant	-	NC_000016.10:g.53637704C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Val1074Ala	rs1301760105	missense variant	-	NC_000016.10:g.53636512A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Asp1077Glu	rs1386379369	missense variant	-	NC_000016.10:g.53636502G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Met1078Thr	rs1391765743	missense variant	-	NC_000016.10:g.53636500A>G	gnomAD
RPGRIP1L	Q68CZ1	p.Ser1079Ala	rs1295300355	missense variant	-	NC_000016.10:g.53636498A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ser1079Leu	rs777328680	missense variant	-	NC_000016.10:g.53636497G>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser1083Asn	rs1321281371	missense variant	-	NC_000016.10:g.53636485C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Asp1084Asn	rs747472740	missense variant	-	NC_000016.10:g.53636483C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1085Gly	rs573999259	missense variant	-	NC_000016.10:g.53636479T>C	1000Genomes,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Cys1086Tyr	rs772351648	missense variant	-	NC_000016.10:g.53636476C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Cys1086Ser	rs772351648	missense variant	-	NC_000016.10:g.53636476C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Cys1086Arg	rs773238696	missense variant	-	NC_000016.10:g.53636477A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1087Val	rs748126198	missense variant	-	NC_000016.10:g.53636474T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1087Leu	rs748126198	missense variant	-	NC_000016.10:g.53636474T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1088Ser	rs1185071339	missense variant	-	NC_000016.10:g.53636470A>C	TOPMed
RPGRIP1L	Q68CZ1	p.Gly1090Ser	rs1432191595	missense variant	-	NC_000016.10:g.53636465C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Pro1091Thr	rs1436900505	missense variant	-	NC_000016.10:g.53636462G>T	gnomAD
RPGRIP1L	Q68CZ1	p.Pro1091Leu	rs368430585	missense variant	-	NC_000016.10:g.53636461G>A	ESP,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1092Ser	rs755086675	missense variant	-	NC_000016.10:g.53636458A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Lys1094Asn	rs780022441	missense variant	-	NC_000016.10:g.53636451C>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Lys1094Arg	rs749199377	missense variant	-	NC_000016.10:g.53636452T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1096Ter	RCV000722542	frameshift	-	NC_000016.10:g.53636448dup	ClinVar
RPGRIP1L	Q68CZ1	p.Ser1099Gly	rs1469199537	missense variant	-	NC_000016.10:g.53622356T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1101Thr	RCV000636948	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53622350C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Ala1101Pro	rs539084201	missense variant	-	NC_000016.10:g.53622350C>G	TOPMed
RPGRIP1L	Q68CZ1	p.Ala1101Thr	rs539084201	missense variant	-	NC_000016.10:g.53622350C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Ala1101Ter	RCV000190621	frameshift	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53622351_53622352GA[3]	ClinVar
RPGRIP1L	Q68CZ1	p.Leu1102Trp	rs1268468824	missense variant	-	NC_000016.10:g.53622346A>C	TOPMed
RPGRIP1L	Q68CZ1	p.Pro1104Ser	rs772561197	missense variant	-	NC_000016.10:g.53622341G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Gly1105Arg	rs528501990	missense variant	-	NC_000016.10:g.53622338C>T	1000Genomes,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Cys1108Tyr	rs919333754	missense variant	-	NC_000016.10:g.53622328C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1111Thr	rs973841786	missense variant	-	NC_000016.10:g.53622320C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1111Glu	rs963424967	missense variant	-	NC_000016.10:g.53622319G>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1111Val	rs963424967	missense variant	-	NC_000016.10:g.53622319G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1112Asn	rs986384855	missense variant	-	NC_000016.10:g.53622316A>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1114Gly	rs1369192994	missense variant	-	NC_000016.10:g.53622310G>C	TOPMed
RPGRIP1L	Q68CZ1	p.Asn1117Lys	rs1300571190	missense variant	-	NC_000016.10:g.53622300G>C	TOPMed
RPGRIP1L	Q68CZ1	p.Asn1117Asp	rs1386818617	missense variant	-	NC_000016.10:g.53622302T>C	TOPMed
RPGRIP1L	Q68CZ1	p.Phe1118Leu	rs1443552550	missense variant	-	NC_000016.10:g.53622297G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Phe1118Leu	rs559742485	missense variant	-	NC_000016.10:g.53622299A>G	1000Genomes,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1119His	rs1207253947	missense variant	-	NC_000016.10:g.53622295C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Arg1119Cys	rs1030543863	missense variant	-	NC_000016.10:g.53622296G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro1121Leu	RCV000734008	missense variant	-	NC_000016.10:g.53622289G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Pro1121Leu	RCV000292527	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53622289G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Pro1121Ser	rs1328154499	missense variant	-	NC_000016.10:g.53622290G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Pro1121Leu	rs886052093	missense variant	-	NC_000016.10:g.53622289G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro1121Leu	RCV000389095	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53622289G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Pro1121Leu	RCV000332245	missense variant	Nephronophthisis	NC_000016.10:g.53622289G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Gly1122Cys	rs1230525806	missense variant	-	NC_000016.10:g.53622287C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Ser1123Pro	rs1488870675	missense variant	-	NC_000016.10:g.53622284A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Ser1124Ile	rs774600611	missense variant	-	NC_000016.10:g.53622280C>A	ExAC
RPGRIP1L	Q68CZ1	p.Ser1124Arg	rs1332759984	missense variant	-	NC_000016.10:g.53622281T>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1125Tyr	rs866468122	missense variant	-	NC_000016.10:g.53622278C>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1132Arg	RCV000244012	missense variant	-	NC_000016.10:g.53622256T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Gln1132Arg	rs561414163	missense variant	-	NC_000016.10:g.53622256T>C	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1132Arg	RCV000535913	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53622256T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Asp1134Ala	rs1387709465	missense variant	-	NC_000016.10:g.53622250T>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1136Thr	rs1417702900	missense variant	-	NC_000016.10:g.53622244A>G	TOPMed
RPGRIP1L	Q68CZ1	p.Ile1136Val	rs1458529257	missense variant	-	NC_000016.10:g.53622245T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Thr1137Ile	rs1156546553	missense variant	-	NC_000016.10:g.53622241G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Gly1138Asp	rs1387929830	missense variant	-	NC_000016.10:g.53622238C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1139Val	rs1162157827	missense variant	-	NC_000016.10:g.53622235G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Cys1140Arg	rs1302017682	missense variant	-	NC_000016.10:g.53622233A>G	TOPMed
RPGRIP1L	Q68CZ1	p.His1142Tyr	rs1473386762	missense variant	-	NC_000016.10:g.53622227G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr1143Ser	RCV000081726	missense variant	-	NC_000016.10:g.53622223G>C	ClinVar
RPGRIP1L	Q68CZ1	p.Thr1143Asn	rs111775292	missense variant	-	NC_000016.10:g.53622223G>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr1143Ser	rs111775292	missense variant	-	NC_000016.10:g.53622223G>C	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1144Glu	rs1050777749	missense variant	-	NC_000016.10:g.53622221G>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1147Ter	rs752266252	stop gained	-	NC_000016.10:g.53619202C>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1149Asn	rs766943204	missense variant	-	NC_000016.10:g.53619195A>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1149Asn	RCV000484881	missense variant	-	NC_000016.10:g.53619195A>T	ClinVar
RPGRIP1L	Q68CZ1	p.Arg1150Gln	rs376330325	missense variant	-	NC_000016.10:g.53619192C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1150Trp	rs750930363	missense variant	-	NC_000016.10:g.53619193G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1151Leu	RCV000249264	missense variant	-	NC_000016.10:g.53619190T>G	ClinVar
RPGRIP1L	Q68CZ1	p.Ile1151Leu	rs886038619	missense variant	-	NC_000016.10:g.53619190T>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1152Lys	rs1210120285	missense variant	-	NC_000016.10:g.53619187C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Ile1154Thr	rs1015972897	missense variant	-	NC_000016.10:g.53619180A>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1155Val	RCV000636954	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619177G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Ala1155Val	rs1436841364	missense variant	-	NC_000016.10:g.53619177G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Ala1155Ser	rs1431057757	missense variant	-	NC_000016.10:g.53619178C>A	TOPMed
RPGRIP1L	Q68CZ1	p.Asn1159Lys	rs768881486	missense variant	-	NC_000016.10:g.53619164A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asn1159Asp	rs774549370	missense variant	-	NC_000016.10:g.53619166T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asn1159Asp	RCV000658126	missense variant	-	NC_000016.10:g.53619166T>C	ClinVar
RPGRIP1L	Q68CZ1	p.Asp1160Glu	rs762975431	missense variant	-	NC_000016.10:g.53619161A>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser1161Phe	rs1170810307	missense variant	-	NC_000016.10:g.53619159G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Gln1162Pro	rs769809157	missense variant	-	NC_000016.10:g.53619156T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1162Leu	rs769809157	missense variant	-	NC_000016.10:g.53619156T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Thr1164Ile	rs745796721	missense variant	-	NC_000016.10:g.53619150G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met1165Thr	rs370088070	missense variant	-	NC_000016.10:g.53619147A>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met1165Lys	rs370088070	missense variant	-	NC_000016.10:g.53619147A>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1166Val	rs202068222	missense variant	-	NC_000016.10:g.53619144T>A	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1167Asn	rs746806282	missense variant	-	NC_000016.10:g.53619142C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1171Trp	rs200189895	missense variant	-	NC_000016.10:g.53619130G>A	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1171Gln	rs141808948	missense variant	-	NC_000016.10:g.53619129C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Phe1173Leu	rs752213129	missense variant	-	NC_000016.10:g.53619124A>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1177Ter	RCV000201661	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53619112G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Arg1177Gln	rs754491479	missense variant	-	NC_000016.10:g.53619111C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1177Gly	rs778533826	missense variant	-	NC_000016.10:g.53619112G>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1177Ter	rs778533826	stop gained	-	NC_000016.10:g.53619112G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Phe1178Cys	rs1238661701	missense variant	-	NC_000016.10:g.53619108A>C	TOPMed
RPGRIP1L	Q68CZ1	p.Tyr1179Cys	rs750925640	missense variant	-	NC_000016.10:g.53619105T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser1180Arg	rs1227260026	missense variant	-	NC_000016.10:g.53619101A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ser1180Asn	rs767972738	missense variant	-	NC_000016.10:g.53619102C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ser1180Arg	rs1317756490	missense variant	-	NC_000016.10:g.53619103T>G	TOPMed
RPGRIP1L	Q68CZ1	p.Leu1181Ile	rs905516252	missense variant	-	NC_000016.10:g.53619100G>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro1182Ala	RCV000406988	missense variant	-	NC_000016.10:g.53619097G>C	ClinVar
RPGRIP1L	Q68CZ1	p.Pro1182Leu	rs1446510817	missense variant	-	NC_000016.10:g.53619096G>A	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Pro1182Ala	rs61742648	missense variant	-	NC_000016.10:g.53619097G>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1183Gly	RCV000081727	missense variant	-	NC_000016.10:g.53619093G>C	ClinVar
RPGRIP1L	Q68CZ1	p.Ala1183Gly	rs139974543	missense variant	-	NC_000016.10:g.53619093G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1183Gly	rs139974543	missense variant	-	NC_000016.10:g.53619093G>C	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Ala1183Gly	VAR_065556	missense variant	-	NC_000016.10:g.53619093G>C	UniProt
RPGRIP1L	Q68CZ1	p.Ala1183Gly	RCV000459406	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619093G>C	ClinVar
RPGRIP1L	Q68CZ1	p.Thr1186Ile	rs577541989	missense variant	-	NC_000016.10:g.53619084G>A	1000Genomes,ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Pro1187Ala	rs1410032900	missense variant	-	NC_000016.10:g.53619082G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Pro1187His	rs763135522	missense variant	-	NC_000016.10:g.53619081G>T	ExAC
RPGRIP1L	Q68CZ1	p.Val1188Met	rs142317242	missense variant	-	NC_000016.10:g.53619079C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val1188Met	RCV000232122	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619079C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val1188Met	RCV000359252	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53619079C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val1188Met	RCV000271829	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619079C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val1188Met	RCV000302183	missense variant	Nephronophthisis	NC_000016.10:g.53619079C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Pro1193Leu	RCV000360555	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53619063G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Pro1193Leu	RCV000299028	missense variant	Nephronophthisis	NC_000016.10:g.53619063G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Pro1193Leu	RCV000268142	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53619063G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Pro1193Leu	rs886052092	missense variant	-	NC_000016.10:g.53619063G>A	-
RPGRIP1L	Q68CZ1	p.Lys1194Glu	rs1482265266	missense variant	-	NC_000016.10:g.53619061T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser1195Arg	rs376935464	missense variant	-	NC_000016.10:g.53619056A>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser1195Ile	rs1391435805	missense variant	-	NC_000016.10:g.53619057C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Ser1195Arg	rs376935464	missense variant	-	NC_000016.10:g.53619056A>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly1196Glu	rs1210597784	missense variant	-	NC_000016.10:g.53619054C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Trp1198Ter	RCV000785895	nonsense	Joubert syndrome 7 (JBTS7)	NC_000016.10:g.53619047C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val1199Phe	rs1424253679	missense variant	-	NC_000016.10:g.53619046C>A	TOPMed
RPGRIP1L	Q68CZ1	p.Tyr1201Ter	rs1324427345	stop gained	-	NC_000016.10:g.53619038A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Asn1202Lys	rs1462325543	missense variant	-	NC_000016.10:g.53619035G>C	gnomAD
RPGRIP1L	Q68CZ1	p.Tyr1203Cys	rs770785256	missense variant	-	NC_000016.10:g.53619033T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ser1204Asn	rs746750855	missense variant	-	NC_000016.10:g.53619030C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val1206Met	rs1329201140	missense variant	-	NC_000016.10:g.53619025C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1207Met	rs748020039	missense variant	-	NC_000016.10:g.53611047G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1207Phe	rs1442050088	missense variant	-	NC_000016.10:g.53611049T>A	TOPMed
RPGRIP1L	Q68CZ1	p.Val1209Met	rs373993184	missense variant	-	NC_000016.10:g.53611043C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1210Val	rs1266038525	missense variant	-	NC_000016.10:g.53611039T>A	gnomAD
RPGRIP1L	Q68CZ1	p.Ala1216Gly	rs748793625	missense variant	-	NC_000016.10:g.53611021G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Lys1217Glu	rs1164098643	missense variant	-	NC_000016.10:g.53611019T>C	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys1217Arg	rs542633835	missense variant	-	NC_000016.10:g.53611018T>C	1000Genomes
RPGRIP1L	Q68CZ1	p.Asp1219Ala	rs1224133228	missense variant	-	NC_000016.10:g.53611012T>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1220Val	rs147046186	missense variant	-	NC_000016.10:g.53611010T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Leu1221Ter	rs747502015	stop gained	-	NC_000016.10:g.53611006A>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1224Met	rs1004217716	missense variant	-	NC_000016.10:g.53610996T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ile1224Leu	rs778319575	missense variant	-	NC_000016.10:g.53610998T>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1224Val	rs778319575	missense variant	-	NC_000016.10:g.53610998T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1226Pro	rs758697413	missense variant	-	NC_000016.10:g.53610991T>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1228Arg	rs753018793	missense variant	-	NC_000016.10:g.53610985T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Met1230Ile	rs141838831	missense variant	-	NC_000016.10:g.53610978C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Met1230Leu	rs755185425	missense variant	-	NC_000016.10:g.53610980T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asn1232Asp	rs766345950	missense variant	-	NC_000016.10:g.53610974T>C	ExAC
RPGRIP1L	Q68CZ1	p.Arg1233Ser	rs760891642	missense variant	-	NC_000016.10:g.53610969T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu1235Val	rs1306500140	missense variant	-	NC_000016.10:g.53605613G>C	TOPMed
RPGRIP1L	Q68CZ1	p.Arg1236Cys	RCV000224065	missense variant	-	NC_000016.10:g.53605610G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Arg1236His	rs1410635948	missense variant	-	NC_000016.10:g.53605609C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Arg1236Cys	rs151332923	missense variant	Meckel syndrome 5 (MKS5)	NC_000016.10:g.53605610G>A	UniProt,dbSNP
RPGRIP1L	Q68CZ1	p.Arg1236Cys	VAR_066482	missense variant	Meckel syndrome 5 (MKS5)	NC_000016.10:g.53605610G>A	UniProt
RPGRIP1L	Q68CZ1	p.Arg1236Cys	rs151332923	missense variant	-	NC_000016.10:g.53605610G>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1236Cys	RCV000764074	missense variant	COACH syndrome (CC2D2A)	NC_000016.10:g.53605610G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Phe1237Tyr	rs763788018	missense variant	-	NC_000016.10:g.53605606A>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Phe1237Leu	rs762873755	missense variant	-	NC_000016.10:g.53605605G>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Thr1238Ile	rs1064796997	missense variant	-	NC_000016.10:g.53605603G>A	TOPMed
RPGRIP1L	Q68CZ1	p.Thr1238Ile	RCV000483922	missense variant	-	NC_000016.10:g.53605603G>A	ClinVar
RPGRIP1L	Q68CZ1	p.Val1239Met	RCV000176677	missense variant	-	NC_000016.10:g.53605601C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val1239Met	rs142387463	missense variant	-	NC_000016.10:g.53605601C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val1240Ala	RCV000727656	missense variant	-	NC_000016.10:g.53605597A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Val1240Leu	rs759000005	missense variant	-	NC_000016.10:g.53605598C>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val1240Ala	rs201248643	missense variant	-	NC_000016.10:g.53605597A>G	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val1240Ala	RCV000195078	missense variant	-	NC_000016.10:g.53605597A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Asp1246Glu	rs1239622461	missense variant	-	NC_000016.10:g.53605578G>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1247Lys	rs201312119	missense variant	-	NC_000016.10:g.53605577C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1248Arg	rs1310234471	missense variant	-	NC_000016.10:g.53605573T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Asp1249Asn	rs148773489	missense variant	-	NC_000016.10:g.53605571C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1249Tyr	rs148773489	missense variant	-	NC_000016.10:g.53605571C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1249Tyr	RCV000316175	missense variant	-	NC_000016.10:g.53605571C>A	ClinVar
RPGRIP1L	Q68CZ1	p.Leu1250Val	rs779532350	missense variant	-	NC_000016.10:g.53605568G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1254Asn	rs994359073	missense variant	-	NC_000016.10:g.53605556C>T	TOPMed
RPGRIP1L	Q68CZ1	p.Ile1255Thr	rs749664648	missense variant	-	NC_000016.10:g.53605552A>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1255Val	rs1192962551	missense variant	-	NC_000016.10:g.53605553T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Val1257Met	rs536037779	missense variant	-	NC_000016.10:g.53605547C>T	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Val1260Ile	RCV000469572	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53605538C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Val1260Ile	rs781401167	missense variant	-	NC_000016.10:g.53605538C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1261Asn	RCV000499574	missense variant	-	NC_000016.10:g.53605535C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Asp1261Tyr	rs1445612197	missense variant	-	NC_000016.10:g.53605535C>A	gnomAD
RPGRIP1L	Q68CZ1	p.Asp1261Asn	rs1445612197	missense variant	-	NC_000016.10:g.53605535C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Asp1264Asn	RCV000114220	missense variant	-	NC_000016.10:g.53605526C>T	ClinVar
RPGRIP1L	Q68CZ1	p.Asp1264Asn	rs3213758	missense variant	-	NC_000016.10:g.53605526C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1264Tyr	VAR_066483	Missense	-	-	UniProt
RPGRIP1L	Q68CZ1	p.Met1265Leu	rs764102183	missense variant	-	NC_000016.10:g.53605523T>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1267Lys	rs762601928	missense variant	-	NC_000016.10:g.53605517G>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1267Glu	rs762601928	missense variant	-	NC_000016.10:g.53605517G>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1268Gly	rs752514830	missense variant	-	NC_000016.10:g.53605513T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1273Thr	rs764832127	missense variant	-	NC_000016.10:g.53605498A>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1273Val	rs1352682459	missense variant	-	NC_000016.10:g.53605499T>C	gnomAD
RPGRIP1L	Q68CZ1	p.Ile1273Met	rs1244061656	missense variant	-	NC_000016.10:g.53605497A>C	gnomAD
RPGRIP1L	Q68CZ1	p.Glu1274Lys	rs759155342	missense variant	-	NC_000016.10:g.53605496C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gln1275Arg	rs776310931	missense variant	-	NC_000016.10:g.53605492T>C	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ile1277Val	rs770410795	missense variant	-	NC_000016.10:g.53605487T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1278Asn	rs370655253	missense variant	-	NC_000016.10:g.53605484C>T	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Phe1280Ser	RCV000820913	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53602185A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Phe1280Ser	RCV000284914	missense variant	Nephronophthisis	NC_000016.10:g.53602185A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Phe1280Ser	RCV000385189	missense variant	Meckel-Gruber syndrome	NC_000016.10:g.53602185A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Phe1280Ser	rs377402117	missense variant	-	NC_000016.10:g.53602185A>G	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Phe1280Ser	RCV000321256	missense variant	Joubert syndrome (JBTS)	NC_000016.10:g.53602185A>G	ClinVar
RPGRIP1L	Q68CZ1	p.Arg1283Ter	rs754697392	stop gained	-	NC_000016.10:g.53602177G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1283Gln	rs753647152	missense variant	-	NC_000016.10:g.53602176C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1283Gly	rs754697392	missense variant	-	NC_000016.10:g.53602177G>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Asp1285Asn	rs765898122	missense variant	-	NC_000016.10:g.53602171C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gly1286Val	rs755820734	missense variant	-	NC_000016.10:g.53602167C>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Gly1286Asp	rs755820734	missense variant	-	NC_000016.10:g.53602167C>T	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1287Lys	rs1469581898	missense variant	-	NC_000016.10:g.53602165C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Gly1288Val	rs745687958	missense variant	-	NC_000016.10:g.53602161C>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Gly1288Asp	rs745687958	missense variant	-	NC_000016.10:g.53602161C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Leu1292Phe	rs761483020	missense variant	-	NC_000016.10:g.53602150G>A	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1293Thr	RCV000260371	missense variant	-	NC_000016.10:g.53602146C>G	ClinVar
RPGRIP1L	Q68CZ1	p.Arg1293Ser	rs765853965	missense variant	-	NC_000016.10:g.53602145C>G	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1293Thr	rs776074152	missense variant	-	NC_000016.10:g.53602146C>G	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Val1294Ile	rs1203979901	missense variant	-	NC_000016.10:g.53602144C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Val1296Ile	rs1285970142	missense variant	-	NC_000016.10:g.53602138C>T	gnomAD
RPGRIP1L	Q68CZ1	p.Glu1297Lys	rs777088047	missense variant	-	NC_000016.10:g.53602135C>T	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Glu1297Gly	rs771243025	missense variant	-	NC_000016.10:g.53602134T>C	ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1298Val	rs371501847	missense variant	-	NC_000016.10:g.53602131G>A	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1301Val	rs1382585193	missense variant	-	NC_000016.10:g.53602122G>A	gnomAD
RPGRIP1L	Q68CZ1	p.Ala1301Thr	rs1446259139	missense variant	-	NC_000016.10:g.53602123C>T	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Lys1307Arg	rs139246920	missense variant	-	NC_000016.10:g.53602104T>C	ESP,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Tyr1309His	rs1015987821	missense variant	-	NC_000016.10:g.53602099A>G	TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Arg1310Gly	rs547718820	missense variant	-	NC_000016.10:g.53602096T>C	1000Genomes,ExAC,TOPMed,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1315Asp	rs1471686078	missense variant	-	NC_000016.10:g.53602080G>T	gnomAD
RPGRIP1L	Q68CZ1	p.Ala1315Ser	rs779866112	missense variant	-	NC_000016.10:g.53602081C>A	ExAC,gnomAD
RPGRIP1L	Q68CZ1	p.Ala1315Pro	rs779866112	missense variant	-	NC_000016.10:g.53602081C>G	ExAC,gnomAD
LHX8	Q68G74	p.Leu4Pro	rs202103118	missense variant	-	NC_000001.11:g.75130725T>C	1000Genomes,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Ser5Thr	COSM6127669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75130728G>C	NCI-TCGA Cosmic
LHX8	Q68G74	p.Arg6Ser	rs865917241	missense variant	-	NC_000001.11:g.75130732G>C	gnomAD
LHX8	Q68G74	p.Gln8Arg	rs1324455608	missense variant	-	NC_000001.11:g.75136607A>G	gnomAD
LHX8	Q68G74	p.Leu10Phe	rs1370960423	missense variant	-	NC_000001.11:g.75136612C>T	TOPMed,gnomAD
LHX8	Q68G74	p.Met11Thr	rs546038231	missense variant	-	NC_000001.11:g.75136616T>C	1000Genomes
LHX8	Q68G74	p.Met11Leu	rs116590034	missense variant	-	NC_000001.11:g.75136615A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Met11Val	rs116590034	missense variant	-	NC_000001.11:g.75136615A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Met11Ile	rs1300209641	missense variant	-	NC_000001.11:g.75136617G>A	gnomAD
LHX8	Q68G74	p.Met11Leu	rs116590034	missense variant	-	NC_000001.11:g.75136615A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Ser12Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75136618T>C	NCI-TCGA
LHX8	Q68G74	p.Arg17Trp	rs376772505	missense variant	-	NC_000001.11:g.75136633C>T	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Arg17Pro	rs948066616	missense variant	-	NC_000001.11:g.75136634G>C	TOPMed,gnomAD
LHX8	Q68G74	p.Thr18Pro	rs1251031449	missense variant	-	NC_000001.11:g.75136636A>C	gnomAD
LHX8	Q68G74	p.Thr19Ile	rs1164496745	missense variant	-	NC_000001.11:g.75136640C>T	gnomAD
LHX8	Q68G74	p.Ala22Val	rs1409443237	missense variant	-	NC_000001.11:g.75136649C>T	TOPMed
LHX8	Q68G74	p.Ala23Val	rs1474307907	missense variant	-	NC_000001.11:g.75136652C>T	gnomAD
LHX8	Q68G74	p.Gly24Arg	rs1419351988	missense variant	-	NC_000001.11:g.75136654G>C	TOPMed
LHX8	Q68G74	p.Arg25Lys	rs910576688	missense variant	-	NC_000001.11:g.75136658G>A	TOPMed
LHX8	Q68G74	p.Arg27Cys	rs1414870487	missense variant	-	NC_000001.11:g.75136663C>T	gnomAD
LHX8	Q68G74	p.Arg27Gly	rs1414870487	missense variant	-	NC_000001.11:g.75136663C>G	gnomAD
LHX8	Q68G74	p.Arg27Leu	rs143612358	missense variant	-	NC_000001.11:g.75136664G>T	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Arg27His	COSM912120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75136664G>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Gly29Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75136669G>T	NCI-TCGA
LHX8	Q68G74	p.Gly29Ala	rs746689969	missense variant	-	NC_000001.11:g.75136670G>C	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Ala30Thr	rs1393862322	missense variant	-	NC_000001.11:g.75136672G>A	TOPMed,gnomAD
LHX8	Q68G74	p.Ala30Ser	rs1393862322	missense variant	-	NC_000001.11:g.75136672G>T	TOPMed,gnomAD
LHX8	Q68G74	p.Gly31Arg	rs1320852521	missense variant	-	NC_000001.11:g.75136675G>A	gnomAD
LHX8	Q68G74	p.Glu32Gly	rs1324989988	missense variant	-	NC_000001.11:g.75136679A>G	gnomAD
LHX8	Q68G74	p.Glu33Lys	rs780709963	missense variant	-	NC_000001.11:g.75136681G>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Gly34Glu	rs369761078	missense variant	-	NC_000001.11:g.75136685G>A	ESP,TOPMed,gnomAD
LHX8	Q68G74	p.Gly34Arg	rs1309340752	missense variant	-	NC_000001.11:g.75136684G>A	TOPMed
LHX8	Q68G74	p.Ser37Asn	rs1044730798	missense variant	-	NC_000001.11:g.75137104G>A	TOPMed,gnomAD
LHX8	Q68G74	p.Pro38Leu	rs755685023	missense variant	-	NC_000001.11:g.75137107C>T	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Glu39Lys	COSM682119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137109G>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Gly40Glu	COSM1687927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137113G>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Ala41Val	rs141641179	missense variant	-	NC_000001.11:g.75137116C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Gly42Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75137118G>T	NCI-TCGA
LHX8	Q68G74	p.Gly42Glu	rs1197803184	missense variant	-	NC_000001.11:g.75137119G>A	gnomAD
LHX8	Q68G74	p.Gly42Ala	rs1197803184	missense variant	-	NC_000001.11:g.75137119G>C	gnomAD
LHX8	Q68G74	p.Gly42Arg	COSM5728830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137118G>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Asp43Glu	rs1397497933	missense variant	-	NC_000001.11:g.75137123C>A	gnomAD
LHX8	Q68G74	p.Asp43Asn	rs772396075	missense variant	-	NC_000001.11:g.75137121G>A	ExAC,gnomAD
LHX8	Q68G74	p.Asp43Gly	rs373338242	missense variant	-	NC_000001.11:g.75137122A>G	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Asp43Glu	rs1397497933	missense variant	-	NC_000001.11:g.75137123C>G	gnomAD
LHX8	Q68G74	p.Glu44Lys	COSM912121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137124G>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Ser46Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75137130T>C	NCI-TCGA
LHX8	Q68G74	p.Ser46Leu	rs1173451037	missense variant	-	NC_000001.11:g.75137131C>T	gnomAD
LHX8	Q68G74	p.Ser46Trp	rs1173451037	missense variant	-	NC_000001.11:g.75137131C>G	gnomAD
LHX8	Q68G74	p.Ser50Leu	COSM4467631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137143C>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Ala51Thr	rs761088950	missense variant	-	NC_000001.11:g.75137145G>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Pro52Ser	rs1031372468	missense variant	-	NC_000001.11:g.75137148C>T	TOPMed,gnomAD
LHX8	Q68G74	p.Pro52Leu	COSM4009873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75137149C>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Ser54Phe	rs551664529	missense variant	-	NC_000001.11:g.75137155C>T	1000Genomes,ExAC,gnomAD
LHX8	Q68G74	p.Pro55Leu	rs1249851043	missense variant	-	NC_000001.11:g.75137158C>T	gnomAD
LHX8	Q68G74	p.Pro55Ser	rs779574295	missense variant	-	NC_000001.11:g.75137157C>T	ExAC,gnomAD
LHX8	Q68G74	p.Ser56Leu	rs754252647	missense variant	-	NC_000001.11:g.75137161C>T	ExAC,gnomAD
LHX8	Q68G74	p.Pro59Ser	rs755492871	missense variant	-	NC_000001.11:g.75137169C>T	ExAC,gnomAD
LHX8	Q68G74	p.Arg60Trp	rs376300206	missense variant	-	NC_000001.11:g.75137172C>T	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Arg60Gly	rs376300206	missense variant	-	NC_000001.11:g.75137172C>G	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Arg60Gln	rs1193593018	missense variant	-	NC_000001.11:g.75137173G>A	gnomAD
LHX8	Q68G74	p.Met62Ile	rs758890953	missense variant	-	NC_000001.11:g.75137180G>T	ExAC,gnomAD
LHX8	Q68G74	p.Ser64Leu	rs1371048574	missense variant	-	NC_000001.11:g.75137185C>T	TOPMed,gnomAD
LHX8	Q68G74	p.Ser64Pro	rs1194857339	missense variant	-	NC_000001.11:g.75137184T>C	gnomAD
LHX8	Q68G74	p.Gly65Arg	rs1461014285	missense variant	-	NC_000001.11:g.75137187G>C	gnomAD
LHX8	Q68G74	p.Pro70Ala	rs549689179	missense variant	-	NC_000001.11:g.75137202C>G	1000Genomes,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Pro70Ser	rs549689179	missense variant	-	NC_000001.11:g.75137202C>T	1000Genomes,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Gly71Ser	rs1362329391	missense variant	-	NC_000001.11:g.75137205G>A	TOPMed,gnomAD
LHX8	Q68G74	p.Lys72Glu	rs1018284578	missense variant	-	NC_000001.11:g.75137208A>G	TOPMed
LHX8	Q68G74	p.Cys73Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75137211T>G	NCI-TCGA
LHX8	Q68G74	p.Cys75GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.75137210_75137211GT>-	NCI-TCGA
LHX8	Q68G74	p.Ser77Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75137224G>T	NCI-TCGA
LHX8	Q68G74	p.Gly79Ser	rs774218214	missense variant	-	NC_000001.11:g.75137229G>A	ExAC,gnomAD
LHX8	Q68G74	p.Val83Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75137241G>A	NCI-TCGA
LHX8	Q68G74	p.Tyr86Asn	rs760344998	missense variant	-	NC_000001.11:g.75137250T>A	ExAC,gnomAD
LHX8	Q68G74	p.Val90Ala	rs1298766462	missense variant	-	NC_000001.11:g.75140986T>C	TOPMed,gnomAD
LHX8	Q68G74	p.Val90Gly	rs1298766462	missense variant	-	NC_000001.11:g.75140986T>G	TOPMed,gnomAD
LHX8	Q68G74	p.Val90Leu	rs1414218575	missense variant	-	NC_000001.11:g.75140985G>T	gnomAD
LHX8	Q68G74	p.Asn91Ile	rs373880349	missense variant	-	NC_000001.11:g.75140989A>T	ESP,ExAC,gnomAD
LHX8	Q68G74	p.Asp92Tyr	rs1222501701	missense variant	-	NC_000001.11:g.75140991G>T	gnomAD
LHX8	Q68G74	p.Val97Ile	rs1233618557	missense variant	-	NC_000001.11:g.75141006G>A	TOPMed
LHX8	Q68G74	p.Arg98Trp	rs758993650	missense variant	-	NC_000001.11:g.75141009C>T	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Arg98Gln	rs764744913	missense variant	-	NC_000001.11:g.75141010G>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Leu100Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75141015C>T	NCI-TCGA
LHX8	Q68G74	p.Ser101Pro	COSM1320912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141018T>C	NCI-TCGA Cosmic
LHX8	Q68G74	p.Ser103Cys	COSM912122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141024A>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Val104Ile	rs1209017097	missense variant	-	NC_000001.11:g.75141027G>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Val104Ile	rs1209017097	missense variant	-	NC_000001.11:g.75141027G>A	gnomAD
LHX8	Q68G74	p.Ser108Thr	rs1246697050	missense variant	-	NC_000001.11:g.75141039T>A	TOPMed
LHX8	Q68G74	p.Ser108Phe	COSM2241767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141040C>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Leu109Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75141042C>A	NCI-TCGA
LHX8	Q68G74	p.His112Tyr	COSM4009875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141051C>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Thr113Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75141054A>G	NCI-TCGA
LHX8	Q68G74	p.Thr113Ile	rs1204629726	missense variant	-	NC_000001.11:g.75141055C>T	gnomAD
LHX8	Q68G74	p.Thr113Ser	rs199843823	missense variant	-	NC_000001.11:g.75141054A>T	ExAC,gnomAD
LHX8	Q68G74	p.Ile117Met	rs1454526403	missense variant	-	NC_000001.11:g.75141068T>G	gnomAD
LHX8	Q68G74	p.Ile117Leu	rs780026312	missense variant	-	NC_000001.11:g.75141066A>C	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Lys120Thr	rs1306820202	missense variant	-	NC_000001.11:g.75141076A>C	TOPMed
LHX8	Q68G74	p.Lys120Asn	COSM912123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141077A>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Phe123Ile	rs749421849	missense variant	-	NC_000001.11:g.75141084T>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Phe123Leu	rs749421849	missense variant	-	NC_000001.11:g.75141084T>C	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Lys125Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75141090A>C	NCI-TCGA
LHX8	Q68G74	p.Leu126Phe	rs1393056105	missense variant	-	NC_000001.11:g.75141093C>T	gnomAD
LHX8	Q68G74	p.Leu126Ile	COSM682118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141093C>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Tyr128Cys	COSM3419463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141100A>G	NCI-TCGA Cosmic
LHX8	Q68G74	p.Arg130Lys	rs771970118	missense variant	-	NC_000001.11:g.75141106G>A	ExAC,gnomAD
LHX8	Q68G74	p.Arg130Ile	COSM682116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75141106G>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Arg131Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143119A>T	NCI-TCGA
LHX8	Q68G74	p.Arg131Gly	rs1250830744	missense variant	-	NC_000001.11:g.75143119A>G	gnomAD
LHX8	Q68G74	p.Arg131Thr	rs1477580554	missense variant	-	NC_000001.11:g.75143120G>C	gnomAD
LHX8	Q68G74	p.Tyr132Cys	rs767774054	missense variant	-	NC_000001.11:g.75143123A>G	ExAC
LHX8	Q68G74	p.Arg135His	rs367958622	missense variant	-	NC_000001.11:g.75143132G>A	NCI-TCGA,NCI-TCGA Cosmic
LHX8	Q68G74	p.Arg135His	rs367958622	missense variant	-	NC_000001.11:g.75143132G>A	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Ser137Ala	COSM6064357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143137T>G	NCI-TCGA Cosmic
LHX8	Q68G74	p.Ser137Phe	COSM75233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143138C>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Arg138Gln	rs756269952	missense variant	-	NC_000001.11:g.75143141G>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Gly140Ala	rs1474711176	missense variant	-	NC_000001.11:g.75143147G>C	TOPMed
LHX8	Q68G74	p.His142Gln	rs376834338	missense variant	-	NC_000001.11:g.75143154C>A	gnomAD
LHX8	Q68G74	p.His144Arg	rs753913303	missense variant	-	NC_000001.11:g.75143159A>G	ExAC,gnomAD
LHX8	Q68G74	p.His144Tyr	COSM1687928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143158C>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Thr146Ile	rs777629713	missense variant	-	NC_000001.11:g.75143165C>T	ExAC,gnomAD
LHX8	Q68G74	p.Thr146Ala	rs371719492	missense variant	-	NC_000001.11:g.75143164A>G	ESP,ExAC,gnomAD
LHX8	Q68G74	p.Trp148Cys	rs374741343	missense variant	-	NC_000001.11:g.75143172G>T	ESP,ExAC,gnomAD
LHX8	Q68G74	p.Val149Ile	rs745723075	missense variant	-	NC_000001.11:g.75143173G>A	ExAC,gnomAD
LHX8	Q68G74	p.Arg150Trp	rs1011085947	missense variant	-	NC_000001.11:g.75143176C>T	TOPMed
LHX8	Q68G74	p.Ala152Asp	rs1276970518	missense variant	-	NC_000001.11:g.75143183C>A	gnomAD
LHX8	Q68G74	p.Gly154Arg	rs769297194	missense variant	-	NC_000001.11:g.75143188G>C	ExAC,gnomAD
LHX8	Q68G74	p.Val156Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143195T>C	NCI-TCGA
LHX8	Q68G74	p.Val156Phe	rs775346408	missense variant	-	NC_000001.11:g.75143194G>T	ExAC,gnomAD
LHX8	Q68G74	p.Val156Ile	rs775346408	missense variant	-	NC_000001.11:g.75143194G>A	ExAC,gnomAD
LHX8	Q68G74	p.Ala160Pro	COSM682115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143206G>C	NCI-TCGA Cosmic
LHX8	Q68G74	p.Cys161Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143210G>A	NCI-TCGA
LHX8	Q68G74	p.Lys168Arg	rs768294649	missense variant	-	NC_000001.11:g.75143231A>G	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Arg169Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143235G>T	NCI-TCGA
LHX8	Q68G74	p.Arg169Thr	rs774931115	missense variant	-	NC_000001.11:g.75143234G>C	ExAC,gnomAD
LHX8	Q68G74	p.Gln170Arg	rs767872147	missense variant	-	NC_000001.11:g.75143237A>G	ExAC,gnomAD
LHX8	Q68G74	p.Ser172Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143243C>T	NCI-TCGA
LHX8	Q68G74	p.Ser172Thr	rs761169415	missense variant	-	NC_000001.11:g.75143242T>A	ExAC,gnomAD
LHX8	Q68G74	p.Thr173Ala	rs1381277550	missense variant	-	NC_000001.11:g.75143245A>G	gnomAD
LHX8	Q68G74	p.Gly174Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143249G>C	NCI-TCGA
LHX8	Q68G74	p.Glu175Asp	rs766574879	missense variant	-	NC_000001.11:g.75143253G>T	ExAC
LHX8	Q68G74	p.Glu175GlyPheSerTerUnkUnk	COSM294520	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75143249_75143250GA>-	NCI-TCGA Cosmic
LHX8	Q68G74	p.Glu176Ter	rs1163393831	stop gained	-	NC_000001.11:g.75143254G>T	gnomAD
LHX8	Q68G74	p.Leu179Phe	rs1401627440	missense variant	-	NC_000001.11:g.75143265G>C	gnomAD
LHX8	Q68G74	p.Val180Met	rs982386836	missense variant	-	NC_000001.11:g.75143266G>A	TOPMed
LHX8	Q68G74	p.Val180Ala	COSM912125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143267T>C	NCI-TCGA Cosmic
LHX8	Q68G74	p.Glu182Asp	COSM1344299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143274G>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Arg187Lys	rs754988725	missense variant	-	NC_000001.11:g.75143288G>A	NCI-TCGA,NCI-TCGA Cosmic
LHX8	Q68G74	p.Arg187Lys	rs754988725	missense variant	-	NC_000001.11:g.75143288G>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Asp191Glu	rs765335899	missense variant	-	NC_000001.11:g.75143301C>A	ExAC,gnomAD
LHX8	Q68G74	p.Asp191Glu	rs765335899	missense variant	-	NC_000001.11:g.75143301C>G	ExAC,gnomAD
LHX8	Q68G74	p.Met193Thr	rs751468028	missense variant	-	NC_000001.11:g.75143306T>C	ExAC
LHX8	Q68G74	p.Asp195Gly	rs1355523653	missense variant	-	NC_000001.11:g.75143312A>G	gnomAD
LHX8	Q68G74	p.Glu200Ala	rs757121845	missense variant	-	NC_000001.11:g.75143327A>C	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Glu200Ter	COSM1213336	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75143326G>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Val201Glu	rs1448281354	missense variant	-	NC_000001.11:g.75143330T>A	TOPMed
LHX8	Q68G74	p.Glu202Gln	rs755990929	missense variant	-	NC_000001.11:g.75143332G>C	ExAC,gnomAD
LHX8	Q68G74	p.Glu202Lys	rs755990929	missense variant	-	NC_000001.11:g.75143332G>A	ExAC,gnomAD
LHX8	Q68G74	p.Glu202Ter	COSM912126	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75143332G>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Asn203Asp	rs779790278	missense variant	-	NC_000001.11:g.75143335A>G	ExAC
LHX8	Q68G74	p.Gly204Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143845G>C	NCI-TCGA
LHX8	Q68G74	p.Asn205Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143847A>G	NCI-TCGA
LHX8	Q68G74	p.Asn205Ser	rs1255473604	missense variant	-	NC_000001.11:g.75143848A>G	TOPMed,gnomAD
LHX8	Q68G74	p.Gly206Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143850G>T	NCI-TCGA
LHX8	Q68G74	p.Val209Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143859G>A	NCI-TCGA
LHX8	Q68G74	p.Glu210Ala	rs1303491602	missense variant	-	NC_000001.11:g.75143863A>C	TOPMed
LHX8	Q68G74	p.Glu210Lys	rs773525258	missense variant	-	NC_000001.11:g.75143862G>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Thr215Ala	rs1174714503	missense variant	-	NC_000001.11:g.75143877A>G	gnomAD
LHX8	Q68G74	p.Thr215Ser	rs1174714503	missense variant	-	NC_000001.11:g.75143877A>T	gnomAD
LHX8	Q68G74	p.Glu216Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.75143880G>T	NCI-TCGA
LHX8	Q68G74	p.Asp218Ala	rs771240386	missense variant	-	NC_000001.11:g.75143887A>C	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Asp218Tyr	rs906927847	missense variant	-	NC_000001.11:g.75143886G>T	TOPMed
LHX8	Q68G74	p.Val219Leu	COSM682114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143889G>C	NCI-TCGA Cosmic
LHX8	Q68G74	p.His221Tyr	rs1430193313	missense variant	-	NC_000001.11:g.75143895C>T	TOPMed
LHX8	Q68G74	p.Arg227Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143914G>A	NCI-TCGA
LHX8	Q68G74	p.Arg227Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75143915A>T	NCI-TCGA
LHX8	Q68G74	p.Ala228Ser	rs776961606	missense variant	-	NC_000001.11:g.75143916G>T	ExAC,gnomAD
LHX8	Q68G74	p.Ala228Ser	rs776961606	missense variant	-	NC_000001.11:g.75143916G>T	NCI-TCGA,NCI-TCGA Cosmic
LHX8	Q68G74	p.Arg229Gln	COSM3790258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75143920G>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Asp235Tyr	rs943066714	missense variant	-	NC_000001.11:g.75143937G>T	gnomAD
LHX8	Q68G74	p.Asp235His	rs943066714	missense variant	-	NC_000001.11:g.75143937G>C	gnomAD
LHX8	Q68G74	p.Asp235Asn	rs943066714	missense variant	-	NC_000001.11:g.75143937G>A	gnomAD
LHX8	Q68G74	p.Phe244Tyr	rs1214800323	missense variant	-	NC_000001.11:g.75148603T>A	gnomAD
LHX8	Q68G74	p.Ala245Ser	rs1275665127	missense variant	-	NC_000001.11:g.75148605G>T	TOPMed,gnomAD
LHX8	Q68G74	p.Ala245Thr	rs1275665127	missense variant	-	NC_000001.11:g.75148605G>A	TOPMed,gnomAD
LHX8	Q68G74	p.Gln246Ter	rs746214620	stop gained	-	NC_000001.11:g.75148608C>T	ExAC,gnomAD
LHX8	Q68G74	p.Asn248Asp	rs1025083539	missense variant	-	NC_000001.11:g.75148614A>G	TOPMed
LHX8	Q68G74	p.Thr254Ala	rs1196170199	missense variant	-	NC_000001.11:g.75148632A>G	TOPMed
LHX8	Q68G74	p.Arg261Lys	COSM3866087	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75148654G>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Gly263Val	rs1420756328	missense variant	-	NC_000001.11:g.75148660G>T	gnomAD
LHX8	Q68G74	p.Gly263Ala	rs1420756328	missense variant	-	NC_000001.11:g.75148660G>C	gnomAD
LHX8	Q68G74	p.Arg267His	COSM2150860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75148672G>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Gln270His	rs1477240684	missense variant	-	NC_000001.11:g.75148682G>T	gnomAD
LHX8	Q68G74	p.Cys276Phe	rs759572867	missense variant	-	NC_000001.11:g.75156909G>T	ExAC,gnomAD
LHX8	Q68G74	p.Arg277Thr	COSM381722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156912G>C	NCI-TCGA Cosmic
LHX8	Q68G74	p.Ala278Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75156915C>G	NCI-TCGA
LHX8	Q68G74	p.Arg279His	rs775327141	missense variant	-	NC_000001.11:g.75156918G>A	ExAC
LHX8	Q68G74	p.Arg279Cys	COSM426687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156917C>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.His280Arg	rs1238635952	missense variant	-	NC_000001.11:g.75156921A>G	gnomAD
LHX8	Q68G74	p.His283Leu	rs903869073	missense variant	-	NC_000001.11:g.75156930A>T	TOPMed,gnomAD
LHX8	Q68G74	p.His283Tyr	rs763786541	missense variant	-	NC_000001.11:g.75156929C>T	ExAC,gnomAD
LHX8	Q68G74	p.His283Pro	rs903869073	missense variant	-	NC_000001.11:g.75156930A>C	TOPMed,gnomAD
LHX8	Q68G74	p.Val284Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75156932G>T	NCI-TCGA
LHX8	Q68G74	p.Val284Ile	rs756685357	missense variant	-	NC_000001.11:g.75156932G>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Ser285Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75156937T>G	NCI-TCGA
LHX8	Q68G74	p.Ser285Asn	rs767042515	missense variant	-	NC_000001.11:g.75156936G>A	ExAC,gnomAD
LHX8	Q68G74	p.Pro286Arg	rs200810970	missense variant	-	NC_000001.11:g.75156939C>G	1000Genomes
LHX8	Q68G74	p.Asn287Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75156943T>A	NCI-TCGA
LHX8	Q68G74	p.Asn287Ser	COSM464946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156942A>G	NCI-TCGA Cosmic
LHX8	Q68G74	p.His288Tyr	rs866676237	missense variant	-	NC_000001.11:g.75156944C>T	TOPMed,gnomAD
LHX8	Q68G74	p.Ser289Pro	rs1465664677	missense variant	-	NC_000001.11:g.75156947T>C	gnomAD
LHX8	Q68G74	p.Thr292Ser	rs892289229	missense variant	-	NC_000001.11:g.75156956A>T	TOPMed,gnomAD
LHX8	Q68G74	p.Thr292Ile	rs1254384903	missense variant	-	NC_000001.11:g.75156957C>T	TOPMed
LHX8	Q68G74	p.Pro293Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75156959C>T	NCI-TCGA
LHX8	Q68G74	p.Pro293Gln	COSM6127668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156960C>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Val297Ile	rs1381958995	missense variant	-	NC_000001.11:g.75156971G>A	TOPMed,gnomAD
LHX8	Q68G74	p.Val297Ala	rs1308939656	missense variant	-	NC_000001.11:g.75156972T>C	gnomAD
LHX8	Q68G74	p.Pro298Leu	rs1234495179	missense variant	-	NC_000001.11:g.75156975C>T	gnomAD
LHX8	Q68G74	p.Pro298Ser	rs1372189262	missense variant	-	NC_000001.11:g.75156974C>T	TOPMed,gnomAD
LHX8	Q68G74	p.Pro299Ser	rs201945188	missense variant	-	NC_000001.11:g.75156977C>T	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Pro299Thr	rs201945188	missense variant	-	NC_000001.11:g.75156977C>A	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Arg301Ser	rs375095039	missense variant	-	NC_000001.11:g.75156985G>C	ESP
LHX8	Q68G74	p.Leu302Val	rs755312408	missense variant	-	NC_000001.11:g.75156986C>G	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Leu302Met	rs755312408	missense variant	-	NC_000001.11:g.75156986C>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Ser303Cys	rs909327356	missense variant	-	NC_000001.11:g.75156990C>G	TOPMed,gnomAD
LHX8	Q68G74	p.Ser303Ala	rs984887072	missense variant	-	NC_000001.11:g.75156989T>G	TOPMed,gnomAD
LHX8	Q68G74	p.Pro304Ser	rs943417924	missense variant	-	NC_000001.11:g.75156992C>T	TOPMed,gnomAD
LHX8	Q68G74	p.Pro304Gln	COSM71433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75156993C>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Met306Val	rs559902996	missense variant	-	NC_000001.11:g.75156998A>G	ExAC,gnomAD
LHX8	Q68G74	p.Met306Thr	rs1002094310	missense variant	-	NC_000001.11:g.75156999T>C	gnomAD
LHX8	Q68G74	p.Leu307Ser	rs1432645495	missense variant	-	NC_000001.11:g.75157002T>C	gnomAD
LHX8	Q68G74	p.Glu309Asp	rs368509617	missense variant	-	NC_000001.11:g.75157009A>T	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Glu309Gln	COSM4009877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75157007G>C	NCI-TCGA Cosmic
LHX8	Q68G74	p.Met310Val	rs747102164	missense variant	-	NC_000001.11:g.75157010A>G	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Ala311Ser	rs769768093	missense variant	-	NC_000001.11:g.75157013G>T	ExAC,gnomAD
LHX8	Q68G74	p.Val316Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75157029T>C	NCI-TCGA
LHX8	Q68G74	p.Val316Met	rs374046822	missense variant	-	NC_000001.11:g.75157028G>A	ESP,ExAC,gnomAD
LHX8	Q68G74	p.Pro317Ser	rs1038927087	missense variant	-	NC_000001.11:g.75157031C>T	TOPMed
LHX8	Q68G74	p.Gln318Arg	rs1276222256	missense variant	-	NC_000001.11:g.75157035A>G	gnomAD
LHX8	Q68G74	p.Asp319Gly	rs763798465	missense variant	-	NC_000001.11:g.75157038A>G	ExAC,gnomAD
LHX8	Q68G74	p.Gly320Glu	rs773949220	missense variant	-	NC_000001.11:g.75157041G>A	ExAC,gnomAD
LHX8	Q68G74	p.Gly320Val	COSM373903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75157041G>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Thr321Ala	rs1449009809	missense variant	-	NC_000001.11:g.75157043A>G	TOPMed
LHX8	Q68G74	p.Thr321Met	rs761472990	missense variant	-	NC_000001.11:g.75157044C>T	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Leu323Val	rs752595927	missense variant	-	NC_000001.11:g.75157049T>G	ExAC,gnomAD
LHX8	Q68G74	p.Leu323Ile	rs752595927	missense variant	-	NC_000001.11:g.75157049T>A	ExAC,gnomAD
LHX8	Q68G74	p.Ala325Val	rs34889650	missense variant	-	NC_000001.11:g.75157056C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Ala325Glu	rs34889650	missense variant	-	NC_000001.11:g.75157056C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.His327Arg	rs1185601695	missense variant	-	NC_000001.11:g.75157062A>G	-
LHX8	Q68G74	p.Ser328Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75157065G>T	NCI-TCGA
LHX8	Q68G74	p.Ser328Cys	rs1371762552	missense variant	-	NC_000001.11:g.75157064A>T	TOPMed,gnomAD
LHX8	Q68G74	p.Met330Ile	rs779442273	missense variant	-	NC_000001.11:g.75157072G>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Asp331Asn	rs951512258	missense variant	-	NC_000001.11:g.75157073G>A	TOPMed,gnomAD
LHX8	Q68G74	p.Asp331Glu	COSM414794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75157075T>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.His333Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75160822A>G	NCI-TCGA
LHX8	Q68G74	p.His333Pro	rs1296995272	missense variant	-	NC_000001.11:g.75160822A>C	gnomAD
LHX8	Q68G74	p.His333Asn	rs765888467	missense variant	-	NC_000001.11:g.75160821C>A	ExAC,gnomAD
LHX8	Q68G74	p.His333Gln	rs974169282	missense variant	-	NC_000001.11:g.75160823T>G	TOPMed,gnomAD
LHX8	Q68G74	p.Ser334Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75160825C>T	NCI-TCGA
LHX8	Q68G74	p.Pro335Leu	rs1340554040	missense variant	-	NC_000001.11:g.75160828C>T	gnomAD
LHX8	Q68G74	p.Thr336Ala	rs758892986	missense variant	-	NC_000001.11:g.75160830A>G	ExAC,gnomAD
LHX8	Q68G74	p.Thr337Ala	rs1355370578	missense variant	-	NC_000001.11:g.75160833A>G	gnomAD
LHX8	Q68G74	p.Leu338Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75160836C>T	NCI-TCGA
LHX8	Q68G74	p.Leu338Pro	rs1288403904	missense variant	-	NC_000001.11:g.75160837T>C	gnomAD
LHX8	Q68G74	p.Gly339Ter	COSM6064352	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75160839G>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Leu340Phe	rs1444594359	missense variant	-	NC_000001.11:g.75160842C>T	TOPMed
LHX8	Q68G74	p.Leu340Pro	rs778086187	missense variant	-	NC_000001.11:g.75160843T>C	ExAC,gnomAD
LHX8	Q68G74	p.Pro345Ser	rs751732544	missense variant	-	NC_000001.11:g.75160857C>T	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Pro345Thr	rs751732544	missense variant	-	NC_000001.11:g.75160857C>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Pro345Arg	COSM6127666	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75160858C>G	NCI-TCGA Cosmic
LHX8	Q68G74	p.His346Asn	rs757317452	missense variant	-	NC_000001.11:g.75160860C>A	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Ser347Ter	COSM219159	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.75160864C>A	NCI-TCGA Cosmic
LHX8	Q68G74	p.Met348Val	rs368782371	missense variant	-	NC_000001.11:g.75160866A>G	ESP,ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.Thr349Ala	COSM912129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75160869A>G	NCI-TCGA Cosmic
LHX8	Q68G74	p.Gln350His	rs377005651	missense variant	-	NC_000001.11:g.75160874A>C	ExAC,gnomAD
LHX8	Q68G74	p.Gln350Glu	rs954138967	missense variant	-	NC_000001.11:g.75160872C>G	TOPMed
LHX8	Q68G74	p.Leu351Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75160875C>A	NCI-TCGA
LHX8	Q68G74	p.Pro352Ser	rs768548369	missense variant	-	NC_000001.11:g.75160878C>T	ExAC,gnomAD
LHX8	Q68G74	p.Ile353Met	rs778887914	missense variant	-	NC_000001.11:g.75160883A>G	ExAC,TOPMed,gnomAD
LHX8	Q68G74	p.His355Tyr	COSM1320911	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.75160887C>T	NCI-TCGA Cosmic
LHX8	Q68G74	p.Thr356Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.75160890A>G	NCI-TCGA
NXN	Q6DKJ4	p.Leu13Val	rs1217135725	missense variant	-	NC_000017.11:g.979642G>C	gnomAD
NXN	Q6DKJ4	p.Val14Ala	rs541916661	missense variant	-	NC_000017.11:g.979638A>G	1000Genomes,ExAC,gnomAD
NXN	Q6DKJ4	p.Val14Met	rs1239567319	missense variant	-	NC_000017.11:g.979639C>T	TOPMed
NXN	Q6DKJ4	p.Gly16Ser	rs775100240	missense variant	-	NC_000017.11:g.979633C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Val21Met	rs772085766	missense variant	-	NC_000017.11:g.979618C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Val23Ala	rs745786305	missense variant	-	NC_000017.11:g.979611A>G	ExAC,gnomAD
NXN	Q6DKJ4	p.Val23Met	rs1207744200	missense variant	-	NC_000017.11:g.979612C>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.His24Arg	rs1393914699	missense variant	-	NC_000017.11:g.979608T>C	gnomAD
NXN	Q6DKJ4	p.His24Tyr	rs1273813612	missense variant	-	NC_000017.11:g.979609G>A	TOPMed
NXN	Q6DKJ4	p.Ser25Leu	rs773969385	missense variant	-	NC_000017.11:g.979605G>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Gly27Ser	rs748726426	missense variant	-	NC_000017.11:g.979600C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Gly27Asp	rs1362870036	missense variant	-	NC_000017.11:g.979599C>T	gnomAD
NXN	Q6DKJ4	p.Ala28Thr	rs777430376	missense variant	-	NC_000017.11:g.979597C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ile31Val	rs780253304	missense variant	-	NC_000017.11:g.979588T>C	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ser32Trp	rs994861845	missense variant	-	NC_000017.11:g.979584G>C	TOPMed
NXN	Q6DKJ4	p.Phe38Cys	rs750885560	missense variant	-	NC_000017.11:g.979566A>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Cys40Tyr	rs765717869	missense variant	-	NC_000017.11:g.979560C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Ser43Gly	rs757416711	missense variant	-	NC_000017.11:g.979552T>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Ser43Cys	rs757416711	missense variant	-	NC_000017.11:g.979552T>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Ala44Thr	rs1266671330	missense variant	-	NC_000017.11:g.979549C>T	gnomAD
NXN	Q6DKJ4	p.Pro45Ser	rs1242029782	missense variant	-	NC_000017.11:g.979546G>A	gnomAD
NXN	Q6DKJ4	p.Cys46Trp	rs1278380074	missense variant	-	NC_000017.11:g.979541G>C	gnomAD
NXN	Q6DKJ4	p.Leu49Pro	rs1401478285	missense variant	-	NC_000017.11:g.979533A>G	gnomAD
NXN	Q6DKJ4	p.Ser52Asn	rs1342696410	missense variant	-	NC_000017.11:g.979524C>T	gnomAD
NXN	Q6DKJ4	p.Leu53Pro	rs1244320873	missense variant	-	NC_000017.11:g.979521A>G	TOPMed
NXN	Q6DKJ4	p.Ala54Gly	rs1294210029	missense variant	-	NC_000017.11:g.979518G>C	TOPMed
NXN	Q6DKJ4	p.Phe56Leu	rs760946964	missense variant	-	NC_000017.11:g.979511G>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Phe56Val	rs1337004510	missense variant	-	NC_000017.11:g.979513A>C	TOPMed
NXN	Q6DKJ4	p.Gly58Ala	rs1005727468	missense variant	-	NC_000017.11:g.979506C>G	TOPMed
NXN	Q6DKJ4	p.Arg61Leu	rs1417281205	missense variant	-	NC_000017.11:g.979497C>A	TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg61Pro	rs1417281205	missense variant	-	NC_000017.11:g.979497C>G	TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg61Gln	rs1417281205	missense variant	-	NC_000017.11:g.979497C>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.Gly62Arg	rs906010846	missense variant	-	NC_000017.11:g.979495C>T	TOPMed
NXN	Q6DKJ4	p.Gly62Arg	rs906010846	missense variant	-	NC_000017.11:g.979495C>G	TOPMed
NXN	Q6DKJ4	p.Asp63Asn	rs1348248332	missense variant	-	NC_000017.11:g.979492C>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala64Thr	rs1044477260	missense variant	-	NC_000017.11:g.979489C>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala65Thr	rs1395283008	missense variant	-	NC_000017.11:g.979486C>T	TOPMed
NXN	Q6DKJ4	p.Gly67Arg	rs1313690052	missense variant	-	NC_000017.11:g.979480C>G	TOPMed
NXN	Q6DKJ4	p.Pro68Gln	rs1014274238	missense variant	-	NC_000017.11:g.979476G>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.Pro68Ser	rs1357557898	missense variant	-	NC_000017.11:g.979477G>A	TOPMed
NXN	Q6DKJ4	p.Gly69Arg	rs895848866	missense variant	-	NC_000017.11:g.979474C>T	TOPMed
NXN	Q6DKJ4	p.Gly69Val	rs1053115345	missense variant	-	NC_000017.11:g.979473C>A	TOPMed,gnomAD
NXN	Q6DKJ4	p.Gly69Ala	rs1053115345	missense variant	-	NC_000017.11:g.979473C>G	TOPMed,gnomAD
NXN	Q6DKJ4	p.Gly71Glu	rs759317836	missense variant	-	NC_000017.11:g.979467C>T	ExAC,TOPMed
NXN	Q6DKJ4	p.Ala72Glu	rs1452075875	missense variant	-	NC_000017.11:g.979464G>T	gnomAD
NXN	Q6DKJ4	p.Ala74Val	rs1487840086	missense variant	-	NC_000017.11:g.979458G>A	gnomAD
NXN	Q6DKJ4	p.Ala76Thr	rs748816294	missense variant	-	NC_000017.11:g.979453C>T	ExAC
NXN	Q6DKJ4	p.Ala77Gly	rs1315741086	missense variant	-	NC_000017.11:g.979449G>C	gnomAD
NXN	Q6DKJ4	p.Ala77Ser	rs1467569300	missense variant	-	NC_000017.11:g.979450C>A	gnomAD
NXN	Q6DKJ4	p.Glu79Gly	rs1428667072	missense variant	-	NC_000017.11:g.979443T>C	TOPMed
NXN	Q6DKJ4	p.Pro80Leu	rs772684733	missense variant	-	NC_000017.11:g.979440G>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Pro80His	rs772684733	missense variant	-	NC_000017.11:g.979440G>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Pro82Ser	rs747755306	missense variant	-	NC_000017.11:g.979435G>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg84Trp	rs758707319	missense variant	-	NC_000017.11:g.979429G>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg85Leu	rs746177151	missense variant	-	NC_000017.11:g.979425C>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Glu87Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.979420C>T	NCI-TCGA
NXN	Q6DKJ4	p.Val91Met	rs1478204716	missense variant	-	NC_000017.11:g.979408C>T	gnomAD
NXN	Q6DKJ4	p.Ser93Trp	rs371113760	missense variant	-	NC_000017.11:g.979401G>C	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ser93Leu	rs371113760	missense variant	-	NC_000017.11:g.979401G>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Asp94Glu	rs754022022	missense variant	-	NC_000017.11:g.979397G>C	ExAC,TOPMed
NXN	Q6DKJ4	p.Gln95Lys	rs1196574071	missense variant	-	NC_000017.11:g.979396G>T	gnomAD
NXN	Q6DKJ4	p.Gln95Arg	rs1453793583	missense variant	-	NC_000017.11:g.979395T>C	gnomAD
NXN	Q6DKJ4	p.Arg98Trp	rs1472266167	missense variant	-	NC_000017.11:g.979387G>A	gnomAD
NXN	Q6DKJ4	p.Arg98Gln	rs764262520	missense variant	-	NC_000017.11:g.979386C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Asp102Glu	rs756414652	missense variant	-	NC_000017.11:g.979373G>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Val104Met	rs1200701118	missense variant	-	NC_000017.11:g.979369C>T	gnomAD
NXN	Q6DKJ4	p.Asp106His	rs767712123	missense variant	-	NC_000017.11:g.979363C>G	ExAC,gnomAD
NXN	Q6DKJ4	p.Met107Ile	rs759277324	missense variant	-	NC_000017.11:g.979358C>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Leu110Met	rs1259827863	missense variant	-	NC_000017.11:g.979351G>T	TOPMed
NXN	Q6DKJ4	p.Tyr114Cys	rs1310033751	missense variant	-	NC_000017.11:g.979338T>C	gnomAD
NXN	Q6DKJ4	p.Lys115Asn	rs751316545	missense variant	-	NC_000017.11:g.979334C>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Lys115Glu	rs1449031778	missense variant	-	NC_000017.11:g.979336T>C	gnomAD
NXN	Q6DKJ4	p.Glu116Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.979332T>C	NCI-TCGA
NXN	Q6DKJ4	p.Lys117Gln	rs1184316664	missense variant	-	NC_000017.11:g.979330T>G	gnomAD
NXN	Q6DKJ4	p.His118Gln	rs766349434	missense variant	-	NC_000017.11:g.979325G>C	ExAC,gnomAD
NXN	Q6DKJ4	p.His118Pro	rs1187715879	missense variant	-	NC_000017.11:g.979326T>G	TOPMed
NXN	Q6DKJ4	p.Arg119Met	rs762844151	missense variant	-	NC_000017.11:g.979323C>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Lys120Asn	rs769283874	missense variant	-	NC_000017.11:g.979319C>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Leu121Pro	rs763428527	missense variant	-	NC_000017.11:g.826077A>G	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg128Gly	rs770241381	missense variant	-	NC_000017.11:g.826057G>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg128Gln	COSM984200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.826056C>T	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Ser130Cys	rs1430211040	missense variant	-	NC_000017.11:g.826050G>C	gnomAD
NXN	Q6DKJ4	p.Asn131Ser	rs988219063	missense variant	-	NC_000017.11:g.826047T>C	gnomAD
NXN	Q6DKJ4	p.Ile132Thr	rs1266762064	missense variant	-	NC_000017.11:g.826044A>G	TOPMed,gnomAD
NXN	Q6DKJ4	p.Pro133Ser	COSM984196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.826042G>A	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Leu135Val	rs199665864	missense variant	-	NC_000017.11:g.826036G>C	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ile136Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.826033T>G	NCI-TCGA
NXN	Q6DKJ4	p.Asp139Asn	rs747027542	missense variant	-	NC_000017.11:g.826024C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala140Thr	rs1328591785	missense variant	-	NC_000017.11:g.826021C>T	gnomAD
NXN	Q6DKJ4	p.Ala140Val	COSM4069455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.826020G>A	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Thr142Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.826015T>C	NCI-TCGA
NXN	Q6DKJ4	p.Val145Phe	rs1382168362	missense variant	-	NC_000017.11:g.826006C>A	gnomAD
NXN	Q6DKJ4	p.Val145Ala	rs917035148	missense variant	-	NC_000017.11:g.826005A>G	TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg148Gly	rs745712187	missense variant	-	NC_000017.11:g.825997T>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Leu151Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.825988G>T	NCI-TCGA
NXN	Q6DKJ4	p.Val153Met	rs757211358	missense variant	-	NC_000017.11:g.825982C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Ile154ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.825979_825980TC>-	NCI-TCGA
NXN	Q6DKJ4	p.Ile154Phe	COSM4069453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.825979T>A	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Arg155Gln	rs371999469	missense variant	-	NC_000017.11:g.825975C>T	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg155Leu	rs371999469	missense variant	-	NC_000017.11:g.825975C>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg155Gly	rs763870281	missense variant	-	NC_000017.11:g.825976G>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Glu159Ala	rs752205016	missense variant	-	NC_000017.11:g.825963T>G	ExAC,TOPMed
NXN	Q6DKJ4	p.Glu159Gly	rs752205016	missense variant	-	NC_000017.11:g.825963T>C	ExAC,TOPMed
NXN	Q6DKJ4	p.Gly160Ala	rs780843462	missense variant	-	NC_000017.11:g.823765C>G	ExAC,gnomAD
NXN	Q6DKJ4	p.Gly160Asp	rs780843462	missense variant	-	NC_000017.11:g.823765C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Gly166Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.823748C>T	NCI-TCGA
NXN	Q6DKJ4	p.Gly166Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.823747C>T	NCI-TCGA
NXN	Q6DKJ4	p.Pro167Leu	rs754733360	missense variant	-	NC_000017.11:g.823744G>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Lys168Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.823741T>C	NCI-TCGA
NXN	Q6DKJ4	p.Pro169Leu	COSM3521875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.823738G>A	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Arg171Met	rs765881882	missense variant	-	NC_000017.11:g.823732C>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg171Lys	rs765881882	missense variant	-	NC_000017.11:g.823732C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Ala175Gly	rs372340383	missense variant	-	NC_000017.11:g.823720G>C	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Pro177Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.823715G>A	NCI-TCGA
NXN	Q6DKJ4	p.Leu178Val	rs775616902	missense variant	-	NC_000017.11:g.823712A>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Leu179His	rs1323552615	missense variant	-	NC_000017.11:g.823708A>T	TOPMed
NXN	Q6DKJ4	p.Leu179Val	rs772127827	missense variant	-	NC_000017.11:g.823709G>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Leu179Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.823708A>C	NCI-TCGA
NXN	Q6DKJ4	p.Arg180Gly	rs142523196	missense variant	-	NC_000017.11:g.823706T>C	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Asn181Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.823702T>A	NCI-TCGA
NXN	Q6DKJ4	p.Asn182Ser	rs895428669	missense variant	-	NC_000017.11:g.823699T>C	TOPMed,gnomAD
NXN	Q6DKJ4	p.Gln184Ter	rs771006110	stop gained	-	NC_000017.11:g.823694G>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Gln184Arg	rs749152307	missense variant	-	NC_000017.11:g.823693T>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Ser185Tyr	rs1253656186	missense variant	-	NC_000017.11:g.823690G>T	TOPMed
NXN	Q6DKJ4	p.Glu187Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.823685C>A	NCI-TCGA
NXN	Q6DKJ4	p.Glu187Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.823684T>G	NCI-TCGA
NXN	Q6DKJ4	p.Ser189Gly	rs144575469	missense variant	-	NC_000017.11:g.823679T>C	ESP
NXN	Q6DKJ4	p.Ser189Arg	rs747076520	missense variant	-	NC_000017.11:g.823677G>C	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ser190Arg	rs748083527	missense variant	-	NC_000017.11:g.823674G>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Gly193Arg	rs138173706	missense variant	-	NC_000017.11:g.823667C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Gly193Arg	rs138173706	missense variant	-	NC_000017.11:g.823667C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val196Met	rs1003658000	missense variant	-	NC_000017.11:g.823658C>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.Val198Ile	rs754274169	missense variant	-	NC_000017.11:g.823652C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Val198Phe	rs754274169	missense variant	-	NC_000017.11:g.823652C>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Tyr199Cys	rs764441690	missense variant	-	NC_000017.11:g.823648T>C	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Phe200Leu	COSM276428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.823644G>T	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Ala202Thr	rs201764402	missense variant	-	NC_000017.11:g.823640C>T	1000Genomes,ExAC,gnomAD
NXN	Q6DKJ4	p.His203Tyr	rs1414754645	missense variant	-	NC_000017.11:g.823637G>A	TOPMed
NXN	Q6DKJ4	p.His203Leu	rs1285300792	missense variant	-	NC_000017.11:g.823636T>A	TOPMed
NXN	Q6DKJ4	p.Trp204LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.823633_823634insA	NCI-TCGA
NXN	Q6DKJ4	p.Pro206Leu	rs139124108	missense variant	-	NC_000017.11:g.822453G>A	ESP,TOPMed,gnomAD
NXN	Q6DKJ4	p.Cys208Phe	COSM6148006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.822447C>A	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Arg209Ter	rs1555610590	stop gained	-	NC_000017.11:g.822445G>A	-
NXN	Q6DKJ4	p.Arg209Gln	rs1167755610	missense variant	-	NC_000017.11:g.822444C>T	TOPMed
NXN	Q6DKJ4	p.Arg209Ter	RCV000791460	nonsense	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 (RRS2)	NC_000017.11:g.822445G>A	ClinVar
NXN	Q6DKJ4	p.Ser210Asn	rs1188786344	missense variant	-	NC_000017.11:g.822441C>T	gnomAD
NXN	Q6DKJ4	p.Ser210Arg	rs1474750195	missense variant	-	NC_000017.11:g.822440G>T	gnomAD
NXN	Q6DKJ4	p.Thr212Ser	rs949521640	missense variant	-	NC_000017.11:g.822435G>C	TOPMed,gnomAD
NXN	Q6DKJ4	p.Thr212Asn	rs949521640	missense variant	-	NC_000017.11:g.822435G>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg213Gln	rs1013992060	missense variant	-	NC_000017.11:g.822432C>T	TOPMed
NXN	Q6DKJ4	p.Glu217Lys	rs1271457542	missense variant	-	NC_000017.11:g.822421C>T	gnomAD
NXN	Q6DKJ4	p.Arg220Trp	rs765517973	missense variant	-	NC_000017.11:g.822412G>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg220Gly	rs765517973	missense variant	-	NC_000017.11:g.822412G>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg220Gln	rs761724253	missense variant	-	NC_000017.11:g.822411C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ile222Met	rs776545872	missense variant	-	NC_000017.11:g.822404G>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Lys223Arg	rs1212707935	missense variant	-	NC_000017.11:g.822402T>C	gnomAD
NXN	Q6DKJ4	p.Gln227His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.822389C>A	NCI-TCGA
NXN	Q6DKJ4	p.Gln227Arg	rs1298852171	missense variant	-	NC_000017.11:g.822390T>C	TOPMed
NXN	Q6DKJ4	p.Asn228Lys	rs903991084	missense variant	-	NC_000017.11:g.822386G>C	TOPMed
NXN	Q6DKJ4	p.Glu230Lys	rs1442416840	missense variant	-	NC_000017.11:g.822382C>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu230Asp	rs199546668	missense variant	-	NC_000017.11:g.822380C>G	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val234Ile	rs370296358	missense variant	-	NC_000017.11:g.822370C>T	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala236Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.822364C>T	NCI-TCGA
NXN	Q6DKJ4	p.Arg238Ser	rs768904998	missense variant	-	NC_000017.11:g.819545C>G	ExAC,gnomAD
NXN	Q6DKJ4	p.Ser239Leu	rs747357061	missense variant	-	NC_000017.11:g.819543G>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu240Asp	rs1215820800	missense variant	-	NC_000017.11:g.819539C>A	TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu241Asp	rs146817876	missense variant	-	NC_000017.11:g.819536C>G	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ser242Cys	rs200136022	missense variant	-	NC_000017.11:g.819534G>C	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ser242Phe	rs200136022	missense variant	-	NC_000017.11:g.819534G>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Lys244Arg	rs1222860217	missense variant	-	NC_000017.11:g.819528T>C	gnomAD
NXN	Q6DKJ4	p.Gln245Leu	rs142489141	missense variant	-	NC_000017.11:g.819525T>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Gln245His	rs1331765237	missense variant	-	NC_000017.11:g.819524C>G	TOPMed
NXN	Q6DKJ4	p.Tyr246Cys	COSM3672557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.819522T>C	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Phe247Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.819518G>T	NCI-TCGA
NXN	Q6DKJ4	p.Phe247Leu	rs1379099660	missense variant	-	NC_000017.11:g.819518G>C	TOPMed
NXN	Q6DKJ4	p.Ser248Thr	rs1325139261	missense variant	-	NC_000017.11:g.819516C>G	gnomAD
NXN	Q6DKJ4	p.Glu249Lys	rs1417141742	missense variant	-	NC_000017.11:g.819514C>T	gnomAD
NXN	Q6DKJ4	p.Met250Ile	rs757615057	missense variant	-	NC_000017.11:g.819509C>A	ExAC
NXN	Q6DKJ4	p.Pro251Ser	rs372695435	missense variant	-	NC_000017.11:g.819508G>A	ESP,ExAC,gnomAD
NXN	Q6DKJ4	p.Pro251Leu	rs1302813232	missense variant	-	NC_000017.11:g.819507G>A	TOPMed,gnomAD
NXN	Q6DKJ4	p.Pro251Ala	rs372695435	missense variant	-	NC_000017.11:g.819508G>C	ESP,ExAC,gnomAD
NXN	Q6DKJ4	p.Trp252Arg	rs760422030	missense variant	-	NC_000017.11:g.819505A>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Leu253Val	rs1227443344	missense variant	-	NC_000017.11:g.819502G>C	gnomAD
NXN	Q6DKJ4	p.Ala254Thr	rs767391651	missense variant	-	NC_000017.11:g.819499C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val255Ile	rs373626666	missense variant	-	NC_000017.11:g.819496C>T	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val255Leu	rs373626666	missense variant	-	NC_000017.11:g.819496C>G	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Thr258Met	rs201388018	missense variant	-	NC_000017.11:g.819486G>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Asp259Asn	rs1256668332	missense variant	-	NC_000017.11:g.819484C>T	gnomAD
NXN	Q6DKJ4	p.Asp259Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.819483T>A	NCI-TCGA
NXN	Q6DKJ4	p.Glu260Asp	rs1205646351	missense variant	-	NC_000017.11:g.819479C>A	TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala261Val	rs1258493558	missense variant	-	NC_000017.11:g.819477G>A	gnomAD
NXN	Q6DKJ4	p.Ala261Ser	rs769441620	missense variant	-	NC_000017.11:g.819478C>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Ala261Thr	rs769441620	missense variant	-	NC_000017.11:g.819478C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg262Trp	rs376430578	missense variant	-	NC_000017.11:g.819475G>A	ESP,ExAC,gnomAD
NXN	Q6DKJ4	p.Arg262Gln	rs1334684450	missense variant	-	NC_000017.11:g.819474C>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg263Trp	rs780435566	missense variant	-	NC_000017.11:g.819472G>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg263Gln	rs772773645	missense variant	-	NC_000017.11:g.819471C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Ser264Leu	rs1353964369	missense variant	-	NC_000017.11:g.819468G>A	gnomAD
NXN	Q6DKJ4	p.Ser264Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.819469A>C	NCI-TCGA
NXN	Q6DKJ4	p.Arg265His	rs757420440	missense variant	-	NC_000017.11:g.819465C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg265Cys	rs779509441	missense variant	-	NC_000017.11:g.819466G>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg268Gln	rs777902672	missense variant	-	NC_000017.11:g.819456C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg268Trp	rs200792211	missense variant	-	NC_000017.11:g.819457G>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Leu269Met	rs202181177	missense variant	-	NC_000017.11:g.819454G>T	1000Genomes,ESP,ExAC,gnomAD
NXN	Q6DKJ4	p.Gly271Arg	rs1367687814	missense variant	-	NC_000017.11:g.819448C>T	gnomAD
NXN	Q6DKJ4	p.Pro276Leu	rs1451133106	missense variant	-	NC_000017.11:g.805241G>A	TOPMed
NXN	Q6DKJ4	p.Thr277Met	rs1280303779	missense variant	-	NC_000017.11:g.805238G>A	gnomAD
NXN	Q6DKJ4	p.Ile279Met	rs756828096	missense variant	-	NC_000017.11:g.805231G>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Met280Val	rs1415302182	missense variant	-	NC_000017.11:g.805230T>C	gnomAD
NXN	Q6DKJ4	p.Met280Ile	rs763892186	missense variant	-	NC_000017.11:g.805228C>A	ExAC
NXN	Q6DKJ4	p.Met280Leu	rs1415302182	missense variant	-	NC_000017.11:g.805230T>A	gnomAD
NXN	Q6DKJ4	p.Met280Thr	rs377207542	missense variant	-	NC_000017.11:g.805229A>G	ESP,ExAC,gnomAD
NXN	Q6DKJ4	p.Asp282Asn	rs1413340199	missense variant	-	NC_000017.11:g.805224C>T	gnomAD
NXN	Q6DKJ4	p.Pro283Leu	rs766775982	missense variant	-	NC_000017.11:g.805220G>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu286Lys	rs762001064	missense variant	-	NC_000017.11:g.805212C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val287Leu	rs1186070371	missense variant	-	NC_000017.11:g.805209C>A	gnomAD
NXN	Q6DKJ4	p.Val287Ala	COSM1385604	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.805208A>G	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Thr289Met	rs1285132490	missense variant	-	NC_000017.11:g.805202G>A	gnomAD
NXN	Q6DKJ4	p.Arg290Gln	rs768934588	missense variant	-	NC_000017.11:g.805199C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg290Trp	rs1327405274	missense variant	-	NC_000017.11:g.805200G>A	gnomAD
NXN	Q6DKJ4	p.Gly292Glu	rs1233630899	missense variant	-	NC_000017.11:g.805193C>T	gnomAD
NXN	Q6DKJ4	p.Val294Ala	rs780193065	missense variant	-	NC_000017.11:g.805187A>G	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val294Gly	rs780193065	missense variant	-	NC_000017.11:g.805187A>C	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val294Glu	rs780193065	missense variant	-	NC_000017.11:g.805187A>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu295Gly	rs745614379	missense variant	-	NC_000017.11:g.805184T>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Val296Gly	rs757123512	missense variant	-	NC_000017.11:g.805181A>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Asn298Lys	rs777406672	missense variant	-	NC_000017.11:g.805174G>C	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Asp299Asn	COSM4069166	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.805173C>T	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Glu300Asp	rs1472783780	missense variant	-	NC_000017.11:g.805168C>A	gnomAD
NXN	Q6DKJ4	p.Glu300Ter	rs752398947	stop gained	-	NC_000017.11:g.805170C>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Glu300Lys	rs752398947	missense variant	-	NC_000017.11:g.805170C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Arg303Gln	rs750729972	missense variant	-	NC_000017.11:g.805160C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg303Trp	rs763398102	missense variant	-	NC_000017.11:g.805161G>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg303Gly	rs763398102	missense variant	-	NC_000017.11:g.805161G>C	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Pro309Leu	rs762305538	missense variant	-	NC_000017.11:g.805142G>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val312Met	rs374139460	missense variant	-	NC_000017.11:g.805134C>T	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val312Leu	rs374139460	missense variant	-	NC_000017.11:g.805134C>G	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Asp317Tyr	rs372591037	missense variant	-	NC_000017.11:g.805119C>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Asp317Glu	rs368025094	missense variant	-	NC_000017.11:g.805117G>C	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Asp317Asn	rs372591037	missense variant	-	NC_000017.11:g.805119C>T	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ser318Cys	rs539986362	missense variant	-	NC_000017.11:g.805115G>C	1000Genomes,ExAC,gnomAD
NXN	Q6DKJ4	p.Ala320Thr	rs374093065	missense variant	-	NC_000017.11:g.805110C>T	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala321Val	rs146444754	missense variant	-	NC_000017.11:g.805106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala321Ser	rs200704586	missense variant	-	NC_000017.11:g.805107C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala321Thr	rs200704586	missense variant	-	NC_000017.11:g.805107C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Asn324Thr	rs757561800	missense variant	-	NC_000017.11:g.805097T>G	ExAC,gnomAD
NXN	Q6DKJ4	p.Glu325Lys	rs1231435913	missense variant	-	NC_000017.11:g.805095C>T	TOPMed
NXN	Q6DKJ4	p.Leu329Pro	rs764548110	missense variant	-	NC_000017.11:g.805082A>G	ExAC,gnomAD
NXN	Q6DKJ4	p.Val330Ile	rs775415213	missense variant	-	NC_000017.11:g.805080C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Leu331Val	rs1220493023	missense variant	-	NC_000017.11:g.805077G>C	TOPMed,gnomAD
NXN	Q6DKJ4	p.Asp338Asn	rs1328471507	missense variant	-	NC_000017.11:g.803795C>T	TOPMed
NXN	Q6DKJ4	p.Gly339Arg	rs767668963	missense variant	-	NC_000017.11:g.803792C>T	TOPMed,gnomAD
NXN	Q6DKJ4	p.Gly339Arg	rs767668963	missense variant	-	NC_000017.11:g.803792C>G	TOPMed,gnomAD
NXN	Q6DKJ4	p.Ser341Ala	rs377506387	missense variant	-	NC_000017.11:g.803786A>C	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu342Lys	rs746489680	missense variant	-	NC_000017.11:g.803783C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu342Ala	rs550128795	missense variant	-	NC_000017.11:g.803782T>G	1000Genomes,ExAC,gnomAD
NXN	Q6DKJ4	p.Glu342Val	rs550128795	missense variant	-	NC_000017.11:g.803782T>A	1000Genomes,ExAC,gnomAD
NXN	Q6DKJ4	p.Ala343Glu	rs537114982	missense variant	-	NC_000017.11:g.803779G>T	1000Genomes,ExAC,gnomAD
NXN	Q6DKJ4	p.Ala343Val	rs537114982	missense variant	-	NC_000017.11:g.803779G>A	1000Genomes,ExAC,gnomAD
NXN	Q6DKJ4	p.Ala344Thr	rs866948738	missense variant	-	NC_000017.11:g.803777C>T	-
NXN	Q6DKJ4	p.Ala344Gly	rs1226899546	missense variant	-	NC_000017.11:g.803776G>C	gnomAD
NXN	Q6DKJ4	p.Lys345Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.803773T>G	NCI-TCGA
NXN	Q6DKJ4	p.Gln349Glu	rs374705601	missense variant	-	NC_000017.11:g.803762G>C	ESP,ExAC,TOPMed
NXN	Q6DKJ4	p.Pro350Leu	rs1398377070	missense variant	-	NC_000017.11:g.803758G>A	gnomAD
NXN	Q6DKJ4	p.Ile351Met	rs1245635818	missense variant	-	NC_000017.11:g.803754T>C	TOPMed
NXN	Q6DKJ4	p.Glu353Gln	rs1481009344	missense variant	-	NC_000017.11:g.803750C>G	TOPMed
NXN	Q6DKJ4	p.Lys354Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.803747T>A	NCI-TCGA
NXN	Q6DKJ4	p.Ala366Val	rs750301202	missense variant	-	NC_000017.11:g.803710G>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Leu369Val	rs150768623	missense variant	-	NC_000017.11:g.803702G>C	ESP,ExAC,gnomAD
NXN	Q6DKJ4	p.Phe371Ile	rs1254836415	missense variant	-	NC_000017.11:g.803696A>T	gnomAD
NXN	Q6DKJ4	p.Phe371Leu	rs1254836415	missense variant	-	NC_000017.11:g.803696A>G	gnomAD
NXN	Q6DKJ4	p.Val372Ile	rs61731770	missense variant	-	NC_000017.11:g.803693C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Gly374Arg	rs371091546	missense variant	-	NC_000017.11:g.803687C>T	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Gly374Glu	rs1207725999	missense variant	-	NC_000017.11:g.803686C>T	gnomAD
NXN	Q6DKJ4	p.Gly374Trp	rs371091546	missense variant	-	NC_000017.11:g.803687C>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu375Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.803682C>A	NCI-TCGA
NXN	Q6DKJ4	p.Asp377Asn	rs771571628	missense variant	-	NC_000017.11:g.801128C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Met378Leu	rs759002236	missense variant	-	NC_000017.11:g.801125T>A	ExAC
NXN	Q6DKJ4	p.Asp380Val	COSM4069154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.801118T>A	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Arg383Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.801110G>A	NCI-TCGA
NXN	Q6DKJ4	p.Arg383Gln	COSM3521544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.801109C>T	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Thr386Ala	rs1227913313	missense variant	-	NC_000017.11:g.801101T>C	gnomAD
NXN	Q6DKJ4	p.Asn387Lys	rs770591775	missense variant	-	NC_000017.11:g.801096G>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Pro389Ser	COSM3820423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.801092G>A	NCI-TCGA Cosmic
NXN	Q6DKJ4	p.Ala392Ser	rs148684832	missense variant	-	NC_000017.11:g.801083C>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Met400Thr	rs1403320091	missense variant	-	NC_000017.11:g.801058A>G	gnomAD
NXN	Q6DKJ4	p.Met400Val	rs1405780218	missense variant	-	NC_000017.11:g.801059T>C	TOPMed
NXN	Q6DKJ4	p.Ala402Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.801052G>A	NCI-TCGA
NXN	Q6DKJ4	p.Arg403Trp	rs1431597050	missense variant	-	NC_000017.11:g.801050G>A	TOPMed,gnomAD
NXN	Q6DKJ4	p.Arg403Gln	rs780641044	missense variant	-	NC_000017.11:g.801049C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Tyr406Asn	rs1177941262	missense variant	-	NC_000017.11:g.801041A>T	gnomAD
NXN	Q6DKJ4	p.Val407Met	rs757472688	missense variant	-	NC_000017.11:g.801038C>T	ExAC,gnomAD
NXN	Q6DKJ4	p.Val407Leu	rs757472688	missense variant	-	NC_000017.11:g.801038C>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Met408Val	rs1406739692	missense variant	-	NC_000017.11:g.801035T>C	gnomAD
NXN	Q6DKJ4	p.Asp409Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.801031T>C	NCI-TCGA
NXN	Q6DKJ4	p.Val410Met	rs753645691	missense variant	-	NC_000017.11:g.801029C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu411Asp	rs755811133	missense variant	-	NC_000017.11:g.801024C>G	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Glu412Gln	rs1484350076	missense variant	-	NC_000017.11:g.801023C>G	gnomAD
NXN	Q6DKJ4	p.Glu412Val	rs752658074	missense variant	-	NC_000017.11:g.801022T>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Glu412Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.801021C>G	NCI-TCGA
NXN	Q6DKJ4	p.Pro415Ser	rs767390135	missense variant	-	NC_000017.11:g.801014G>A	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala416Val	rs142969412	missense variant	-	NC_000017.11:g.801010G>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala416Thr	rs759092228	missense variant	-	NC_000017.11:g.801011C>T	ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Val418Met	rs1233237987	missense variant	-	NC_000017.11:g.801005C>T	gnomAD
NXN	Q6DKJ4	p.Glu419Asp	rs1307506533	missense variant	-	NC_000017.11:g.801000C>G	TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala420Val	rs375068787	missense variant	-	NC_000017.11:g.800998G>A	ESP,ExAC,TOPMed,gnomAD
NXN	Q6DKJ4	p.Ala427Val	rs1434739484	missense variant	-	NC_000017.11:g.800977G>A	TOPMed,gnomAD
NXN	Q6DKJ4	p.Leu430Phe	rs772681179	missense variant	-	NC_000017.11:g.800969G>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Leu430Val	rs772681179	missense variant	-	NC_000017.11:g.800969G>C	ExAC,gnomAD
NXN	Q6DKJ4	p.Pro432Leu	rs747339401	missense variant	-	NC_000017.11:g.800962G>A	ExAC,gnomAD
NXN	Q6DKJ4	p.Pro432Ser	rs769069914	missense variant	-	NC_000017.11:g.800963G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Thr5Met	rs771261176	missense variant	-	NC_000003.12:g.52239003G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.His8Arg	rs1379785416	missense variant	-	NC_000003.12:g.52238994T>C	gnomAD
TWF2	Q6IBS0	p.Ala9Val	rs1476233629	missense variant	-	NC_000003.12:g.52235106G>A	gnomAD
TWF2	Q6IBS0	p.Thr10Met	rs74538868	missense variant	-	NC_000003.12:g.52235103G>A	1000Genomes,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Thr10Ala	rs1258251485	missense variant	-	NC_000003.12:g.52235104T>C	gnomAD
TWF2	Q6IBS0	p.Glu12Gly	rs201502895	missense variant	-	NC_000003.12:g.52235097T>C	1000Genomes,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Glu12Asp	rs751147681	missense variant	-	NC_000003.12:g.52235096C>G	ExAC,gnomAD
TWF2	Q6IBS0	p.Phe16Leu	rs1001114664	missense variant	-	NC_000003.12:g.52235084G>T	TOPMed,gnomAD
TWF2	Q6IBS0	p.Phe16Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.52235084G>C	NCI-TCGA
TWF2	Q6IBS0	p.Phe17Ser	COSM3993199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.52235082A>G	NCI-TCGA Cosmic
TWF2	Q6IBS0	p.Lys19ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.52235078G>-	NCI-TCGA
TWF2	Q6IBS0	p.Arg21Leu	rs375469647	missense variant	-	NC_000003.12:g.52235070C>A	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg21Trp	rs34008749	missense variant	-	NC_000003.12:g.52235071G>A	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg21Gln	rs375469647	missense variant	-	NC_000003.12:g.52235070C>T	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala22Thr	rs1223080024	missense variant	-	NC_000003.12:g.52235068C>T	TOPMed
TWF2	Q6IBS0	p.Gly23Ser	rs370855296	missense variant	-	NC_000003.12:g.52235065C>T	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ser24Phe	rs1300337896	missense variant	-	NC_000003.12:g.52235061G>A	gnomAD
TWF2	Q6IBS0	p.Val25Met	rs1443391799	missense variant	-	NC_000003.12:g.52235059C>T	gnomAD
TWF2	Q6IBS0	p.Arg26Gln	rs149287459	missense variant	-	NC_000003.12:g.52235055C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg26Trp	rs772397152	missense variant	-	NC_000003.12:g.52235056G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Ile28Leu	rs145603944	missense variant	-	NC_000003.12:g.52235050T>G	1000Genomes,ExAC,gnomAD
TWF2	Q6IBS0	p.Lys29Arg	rs1471609458	missense variant	-	NC_000003.12:g.52235046T>C	gnomAD
TWF2	Q6IBS0	p.Val30Phe	rs1413996261	missense variant	-	NC_000003.12:g.52235044C>A	TOPMed
TWF2	Q6IBS0	p.Val30Ala	rs979371815	missense variant	-	NC_000003.12:g.52235043A>G	TOPMed
TWF2	Q6IBS0	p.Ile32Thr	rs1410079367	missense variant	-	NC_000003.12:g.52235037A>G	gnomAD
TWF2	Q6IBS0	p.Glu33Lys	rs1177659400	missense variant	-	NC_000003.12:g.52235035C>T	gnomAD
TWF2	Q6IBS0	p.Glu33Val	rs542542496	missense variant	-	NC_000003.12:g.52235034T>A	1000Genomes,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Glu35Lys	rs745768617	missense variant	-	NC_000003.12:g.52235029C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gln36His	rs1289504178	missense variant	-	NC_000003.12:g.52232118C>A	gnomAD
TWF2	Q6IBS0	p.Leu37Val	rs758055334	missense variant	-	NC_000003.12:g.52232117G>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Leu37Ile	rs758055334	missense variant	-	NC_000003.12:g.52232117G>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Val38Leu	rs754437632	missense variant	-	NC_000003.12:g.52232114C>G	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Val38Met	rs754437632	missense variant	-	NC_000003.12:g.52232114C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ser42Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.52232101G>A	NCI-TCGA
TWF2	Q6IBS0	p.Gln43Pro	rs1432373510	missense variant	-	NC_000003.12:g.52232098T>G	gnomAD
TWF2	Q6IBS0	p.Glu44Asp	rs1381758509	missense variant	-	NC_000003.12:g.52232094C>G	TOPMed,gnomAD
TWF2	Q6IBS0	p.Val46Ala	rs750964094	missense variant	-	NC_000003.12:g.52232089A>G	ExAC,gnomAD
TWF2	Q6IBS0	p.Val46Ile	rs1186315338	missense variant	-	NC_000003.12:g.52232090C>T	gnomAD
TWF2	Q6IBS0	p.Gly47Asp	rs767848268	missense variant	-	NC_000003.12:g.52232086C>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg48Cys	rs757765559	missense variant	-	NC_000003.12:g.52232084G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg48Pro	rs377061100	missense variant	-	NC_000003.12:g.52232083C>G	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg48His	rs377061100	missense variant	-	NC_000003.12:g.52232083C>T	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Asp50Val	rs763313291	missense variant	-	NC_000003.12:g.52232077T>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Asp50His	rs764485770	missense variant	-	NC_000003.12:g.52232078C>G	ExAC,gnomAD
TWF2	Q6IBS0	p.Gln51Arg	rs775804272	missense variant	-	NC_000003.12:g.52232074T>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Tyr53Cys	rs765439059	missense variant	-	NC_000003.12:g.52232068T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Val57Met	rs373912432	missense variant	-	NC_000003.12:g.52232057C>T	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Pro59Ser	rs138252487	missense variant	-	NC_000003.12:g.52232051G>A	ESP,ExAC,TOPMed
TWF2	Q6IBS0	p.Ala63Thr	rs1191645102	missense variant	-	NC_000003.12:g.52232039C>T	TOPMed
TWF2	Q6IBS0	p.Ala63Asp	rs1395527572	missense variant	-	NC_000003.12:g.52232038G>T	TOPMed,gnomAD
TWF2	Q6IBS0	p.Gln64Arg	rs772921841	missense variant	-	NC_000003.12:g.52232035T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Cys67Trp	rs771881416	missense variant	-	NC_000003.12:g.52232025G>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Leu70Phe	rs1193974257	missense variant	-	NC_000003.12:g.52232018G>A	TOPMed
TWF2	Q6IBS0	p.Arg72Cys	rs35114109	missense variant	-	NC_000003.12:g.52232012G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg72Cys	rs35114109	missense variant	-	NC_000003.12:g.52232012G>A	UniProt,dbSNP
TWF2	Q6IBS0	p.Arg72Cys	VAR_042407	missense variant	-	NC_000003.12:g.52232012G>A	UniProt
TWF2	Q6IBS0	p.Arg72His	rs748851110	missense variant	-	NC_000003.12:g.52232011C>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg72Leu	rs748851110	missense variant	-	NC_000003.12:g.52232011C>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Asp74Asn	rs369768683	missense variant	-	NC_000003.12:g.52232006C>T	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Asp74Glu	rs1402281025	missense variant	-	NC_000003.12:g.52232004G>C	TOPMed
TWF2	Q6IBS0	p.Gln76Arg	rs35711542	missense variant	-	NC_000003.12:g.52231999T>C	UniProt,dbSNP
TWF2	Q6IBS0	p.Gln76Arg	VAR_042408	missense variant	-	NC_000003.12:g.52231999T>C	UniProt
TWF2	Q6IBS0	p.Gln76Arg	rs35711542	missense variant	-	NC_000003.12:g.52231999T>C	1000Genomes,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gln79Leu	rs1190753952	missense variant	-	NC_000003.12:g.52231990T>A	gnomAD
TWF2	Q6IBS0	p.Glu82Lys	rs1039366922	missense variant	-	NC_000003.12:g.52231982C>T	gnomAD
TWF2	Q6IBS0	p.Ala87Ser	rs765497422	missense variant	-	NC_000003.12:g.52231967C>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala87Thr	rs765497422	missense variant	-	NC_000003.12:g.52231967C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ser89Ter	rs376043177	stop gained	-	NC_000003.12:g.52231960G>T	ESP,ExAC,gnomAD
TWF2	Q6IBS0	p.Ser89Leu	rs376043177	missense variant	-	NC_000003.12:g.52231960G>A	ESP,ExAC,gnomAD
TWF2	Q6IBS0	p.Asp91Gly	rs1295170453	missense variant	-	NC_000003.12:g.52231954T>C	gnomAD
TWF2	Q6IBS0	p.Asn92Asp	rs975618192	missense variant	-	NC_000003.12:g.52231952T>C	TOPMed,gnomAD
TWF2	Q6IBS0	p.Ser93Pro	rs1349782135	missense variant	-	NC_000003.12:g.52231949A>G	gnomAD
TWF2	Q6IBS0	p.Val95CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.52231527_52231539TCTTCAGCCGCAC>-	NCI-TCGA
TWF2	Q6IBS0	p.Val95Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.52231539C>A	NCI-TCGA
TWF2	Q6IBS0	p.Val95AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.52231525_52231538CATCTTCAGCCGCA>-	NCI-TCGA
TWF2	Q6IBS0	p.Arg96Gly	COSM731138	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.52231536G>C	NCI-TCGA Cosmic
TWF2	Q6IBS0	p.Arg96Pro	rs754071775	missense variant	-	NC_000003.12:g.52231535C>G	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg96Gln	rs754071775	missense variant	-	NC_000003.12:g.52231535C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg96Trp	rs755292436	missense variant	-	NC_000003.12:g.52231536G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Leu97Val	rs760771687	missense variant	-	NC_000003.12:g.52231533G>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Met99Ile	rs1257637790	missense variant	-	NC_000003.12:g.52231525C>A	TOPMed
TWF2	Q6IBS0	p.Met99IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.52231525C>-	NCI-TCGA
TWF2	Q6IBS0	p.Ala102Thr	rs538722603	missense variant	-	NC_000003.12:g.52231518C>T	1000Genomes
TWF2	Q6IBS0	p.Thr104Met	rs774167761	missense variant	-	NC_000003.12:g.52231511G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg105Gln	rs775166989	missense variant	-	NC_000003.12:g.52231508C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg105Trp	rs1062714	missense variant	-	NC_000003.12:g.52231509G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg105Gly	rs1062714	missense variant	-	NC_000003.12:g.52231509G>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg105Leu	rs775166989	missense variant	-	NC_000003.12:g.52231508C>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala106Pro	rs372234847	missense variant	-	NC_000003.12:g.52231506C>G	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Val108Ala	rs1206877603	missense variant	-	NC_000003.12:g.52231499A>G	gnomAD
TWF2	Q6IBS0	p.Val108Met	rs556130658	missense variant	-	NC_000003.12:g.52231500C>T	1000Genomes,ExAC,gnomAD
TWF2	Q6IBS0	p.Lys109Arg	rs1351298637	missense variant	-	NC_000003.12:g.52231496T>C	gnomAD
TWF2	Q6IBS0	p.Lys110ArgPheSerTerUnkUnk	COSM1424368	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.52231493T>-	NCI-TCGA Cosmic
TWF2	Q6IBS0	p.Glu111Lys	rs776266989	missense variant	-	NC_000003.12:g.52231491C>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Phe112Tyr	rs1372839865	missense variant	-	NC_000003.12:g.52231487A>T	gnomAD
TWF2	Q6IBS0	p.Gly114Val	COSM1485362	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.52231481C>A	NCI-TCGA Cosmic
TWF2	Q6IBS0	p.Gly114Ala	rs200379551	missense variant	-	NC_000003.12:g.52231481C>G	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gly115Ala	rs779470731	missense variant	-	NC_000003.12:g.52231478C>G	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ile117Val	rs755323359	missense variant	-	NC_000003.12:g.52231473T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Gly123Arg	rs1173487420	missense variant	-	NC_000003.12:g.52231455C>T	gnomAD
TWF2	Q6IBS0	p.Val125Met	rs756165427	missense variant	-	NC_000003.12:g.52231449C>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Asp127Tyr	rs987229224	missense variant	-	NC_000003.12:g.52231231C>A	gnomAD
TWF2	Q6IBS0	p.Asp127Glu	rs758255337	missense variant	-	NC_000003.12:g.52231229A>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gln135Ter	rs994125870	stop gained	-	NC_000003.12:g.52231207G>A	TOPMed
TWF2	Q6IBS0	p.Gln135Arg	rs759283224	missense variant	-	NC_000003.12:g.52231206T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Ser139Leu	rs202032026	missense variant	-	NC_000003.12:g.52231194G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Cys141Tyr	rs775014939	missense variant	-	NC_000003.12:g.52231188C>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Ala142Pro	rs1393892579	missense variant	-	NC_000003.12:g.52231186C>G	gnomAD
TWF2	Q6IBS0	p.Ala142Val	rs1162856520	missense variant	-	NC_000003.12:g.52231185G>A	gnomAD
TWF2	Q6IBS0	p.Ala143Thr	rs1418491451	missense variant	-	NC_000003.12:g.52231183C>T	gnomAD
TWF2	Q6IBS0	p.Ala143Gly	rs1176491130	missense variant	-	NC_000003.12:g.52231182G>C	gnomAD
TWF2	Q6IBS0	p.Pro144Ser	rs1238457593	missense variant	-	NC_000003.12:g.52231180G>A	TOPMed
TWF2	Q6IBS0	p.Ala145Val	rs369525716	missense variant	-	NC_000003.12:g.52231176G>A	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala145Ser	rs1335993865	missense variant	-	NC_000003.12:g.52231177C>A	gnomAD
TWF2	Q6IBS0	p.Pro146Gln	rs937079388	missense variant	-	NC_000003.12:g.52231173G>T	TOPMed,gnomAD
TWF2	Q6IBS0	p.Pro146Leu	rs937079388	missense variant	-	NC_000003.12:g.52231173G>A	TOPMed,gnomAD
TWF2	Q6IBS0	p.Ser149Thr	rs775968743	missense variant	-	NC_000003.12:g.52231165A>T	ExAC
TWF2	Q6IBS0	p.Ser149Leu	rs770001792	missense variant	-	NC_000003.12:g.52231164G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg152Ile	rs200149703	missense variant	-	NC_000003.12:g.52231155C>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gln156Lys	rs141346827	missense variant	-	NC_000003.12:g.52231144G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg158Cys	rs758401611	missense variant	-	NC_000003.12:g.52231138G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg158His	rs752555088	missense variant	-	NC_000003.12:g.52231137C>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg158Gly	rs758401611	missense variant	-	NC_000003.12:g.52231138G>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Glu161Lys	rs1281613518	missense variant	-	NC_000003.12:g.52231129C>T	gnomAD
TWF2	Q6IBS0	p.Thr164Ala	rs898704194	missense variant	-	NC_000003.12:g.52230989T>C	gnomAD
TWF2	Q6IBS0	p.Glu165Gly	rs373959049	missense variant	-	NC_000003.12:g.52230985T>C	ESP,ExAC,gnomAD
TWF2	Q6IBS0	p.Glu165Gln	rs1346901503	missense variant	-	NC_000003.12:g.52230986C>G	gnomAD
TWF2	Q6IBS0	p.Glu165Val	rs373959049	missense variant	-	NC_000003.12:g.52230985T>A	ESP,ExAC,gnomAD
TWF2	Q6IBS0	p.Ile166Met	rs551290450	missense variant	-	NC_000003.12:g.52230981G>C	TOPMed,gnomAD
TWF2	Q6IBS0	p.Ser167Ile	rs1175173725	missense variant	-	NC_000003.12:g.52230979C>A	gnomAD
TWF2	Q6IBS0	p.Ser167Asn	rs1175173725	missense variant	-	NC_000003.12:g.52230979C>T	gnomAD
TWF2	Q6IBS0	p.Val168Gly	rs771997419	missense variant	-	NC_000003.12:g.52230976A>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Val168Met	rs1454427161	missense variant	-	NC_000003.12:g.52230977C>T	gnomAD
TWF2	Q6IBS0	p.Ser170Gly	rs748149583	missense variant	-	NC_000003.12:g.52230971T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Lys171Glu	rs778651117	missense variant	-	NC_000003.12:g.52230968T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Gln173His	rs187719121	missense variant	-	NC_000003.12:g.52230960C>G	1000Genomes,ExAC,gnomAD
TWF2	Q6IBS0	p.Leu175Pro	rs1329442891	missense variant	-	NC_000003.12:g.52230955A>G	TOPMed
TWF2	Q6IBS0	p.Gln176His	rs753746677	missense variant	-	NC_000003.12:g.52230951C>G	ExAC,gnomAD
TWF2	Q6IBS0	p.Gly177Asp	rs1275968157	missense variant	-	NC_000003.12:g.52230949C>T	TOPMed
TWF2	Q6IBS0	p.Ala179Ser	rs375895610	missense variant	-	NC_000003.12:g.52230944C>A	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala179Val	rs114935680	missense variant	-	NC_000003.12:g.52230943G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala179Thr	rs375895610	missense variant	-	NC_000003.12:g.52230944C>T	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Pro181Arg	rs1216912495	missense variant	-	NC_000003.12:g.52230937G>C	TOPMed
TWF2	Q6IBS0	p.Gln183Leu	rs767082492	missense variant	-	NC_000003.12:g.52230931T>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Pro184Arg	rs1195809438	missense variant	-	NC_000003.12:g.52230928G>C	TOPMed,gnomAD
TWF2	Q6IBS0	p.Glu185Gly	rs1469134386	missense variant	-	NC_000003.12:g.52230925T>C	TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala186Thr	rs1414064111	missense variant	-	NC_000003.12:g.52230923C>T	gnomAD
TWF2	Q6IBS0	p.Gln187Arg	rs761159375	missense variant	-	NC_000003.12:g.52230919T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg188Gln	rs201759490	missense variant	-	NC_000003.12:g.52230916C>T	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg188Trp	rs765720266	missense variant	-	NC_000003.12:g.52230917G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg188Gly	rs765720266	missense variant	-	NC_000003.12:g.52230917G>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg188Pro	rs201759490	missense variant	-	NC_000003.12:g.52230916C>G	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gln191Ter	rs1167806975	stop gained	-	NC_000003.12:g.52230908G>A	gnomAD
TWF2	Q6IBS0	p.Gln191Arg	rs777047645	missense variant	-	NC_000003.12:g.52230907T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Leu193Val	rs1156729543	missense variant	-	NC_000003.12:g.52230902G>C	TOPMed
TWF2	Q6IBS0	p.Ile201Thr	rs1250995074	missense variant	-	NC_000003.12:g.52230877A>G	gnomAD
TWF2	Q6IBS0	p.Lys204Asn	rs370171952	missense variant	-	NC_000003.12:g.52230068C>G	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Lys204Asn	rs370171952	missense variant	-	NC_000003.12:g.52230068C>A	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Leu207Ile	rs1431485097	missense variant	-	NC_000003.12:g.52230061G>T	TOPMed
TWF2	Q6IBS0	p.Glu208Ter	rs1275091257	stop gained	-	NC_000003.12:g.52230058C>A	gnomAD
TWF2	Q6IBS0	p.Arg209Gly	rs745702183	missense variant	-	NC_000003.12:g.52230055G>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg209Gln	rs550294256	missense variant	-	NC_000003.12:g.52230054C>T	1000Genomes,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg209Trp	rs745702183	missense variant	-	NC_000003.12:g.52230055G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg209Leu	rs550294256	missense variant	-	NC_000003.12:g.52230054C>A	1000Genomes,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ile212Val	rs1240933958	missense variant	-	NC_000003.12:g.52230046T>C	gnomAD
TWF2	Q6IBS0	p.Thr217Ala	rs536744957	missense variant	-	NC_000003.12:g.52230031T>C	1000Genomes,ExAC,gnomAD
TWF2	Q6IBS0	p.Thr217Ile	rs757837329	missense variant	-	NC_000003.12:g.52230030G>A	ExAC
TWF2	Q6IBS0	p.Glu218Asp	rs760488571	missense variant	-	NC_000003.12:g.52230026C>G	ExAC,gnomAD
TWF2	Q6IBS0	p.Glu218Gly	rs754372150	missense variant	-	NC_000003.12:g.52230027T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Thr220Met	rs1384873031	missense variant	-	NC_000003.12:g.52230021G>A	gnomAD
TWF2	Q6IBS0	p.Asp221Val	rs756619059	missense variant	-	NC_000003.12:g.52230018T>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Val222Met	rs750791166	missense variant	-	NC_000003.12:g.52230016C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala223Thr	rs1381264887	missense variant	-	NC_000003.12:g.52230013C>T	gnomAD
TWF2	Q6IBS0	p.Ala223Val	rs374151672	missense variant	-	NC_000003.12:g.52230012G>A	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gln224Ter	rs761995490	stop gained	-	NC_000003.12:g.52230010G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Pro226Ser	rs764305121	missense variant	-	NC_000003.12:g.52230004G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ser227Cys	rs1477022569	missense variant	-	NC_000003.12:g.52230000G>C	TOPMed
TWF2	Q6IBS0	p.Arg228Trp	rs970028838	missense variant	-	NC_000003.12:g.52229998G>A	TOPMed
TWF2	Q6IBS0	p.Arg228Leu	rs769661628	missense variant	-	NC_000003.12:g.52229997C>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg228Gln	rs769661628	missense variant	-	NC_000003.12:g.52229997C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Pro230Ser	rs759514349	missense variant	-	NC_000003.12:g.52229992G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg231Gln	rs770701962	missense variant	-	NC_000003.12:g.52229988C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg235Cys	rs999721192	missense variant	-	NC_000003.12:g.52229977G>A	TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg235His	rs1360202184	missense variant	-	NC_000003.12:g.52229976C>T	TOPMed
TWF2	Q6IBS0	p.Phe238Cys	rs777364207	missense variant	-	NC_000003.12:g.52229967A>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Leu240Phe	rs1316879083	missense variant	-	NC_000003.12:g.52229962G>A	gnomAD
TWF2	Q6IBS0	p.Tyr241Cys	rs747703945	missense variant	-	NC_000003.12:g.52229958T>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Thr244Ile	rs1427543347	missense variant	-	NC_000003.12:g.52229949G>A	gnomAD
TWF2	Q6IBS0	p.Gly247Ser	rs1173327930	missense variant	-	NC_000003.12:g.52229941C>T	gnomAD
TWF2	Q6IBS0	p.Asp248Asn	rs547826086	missense variant	-	NC_000003.12:g.52229938C>T	1000Genomes,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Pro249Ala	rs781419320	missense variant	-	NC_000003.12:g.52229935G>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Pro249Ser	rs781419320	missense variant	-	NC_000003.12:g.52229935G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Leu250Phe	rs114956852	missense variant	-	NC_000003.12:g.52229932G>A	1000Genomes,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ser252Phe	rs764462777	missense variant	-	NC_000003.12:g.52229925G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Val253Ile	rs1349564312	missense variant	-	NC_000003.12:g.52229923C>T	TOPMed
TWF2	Q6IBS0	p.Val253Ala	rs763239264	missense variant	-	NC_000003.12:g.52229922A>G	ExAC,gnomAD
TWF2	Q6IBS0	p.Val254Ala	rs1280867419	missense variant	-	NC_000003.12:g.52229782A>G	TOPMed
TWF2	Q6IBS0	p.Ile256Val	rs985943479	missense variant	-	NC_000003.12:g.52229777T>C	TOPMed,gnomAD
TWF2	Q6IBS0	p.Ile256Phe	rs985943479	missense variant	-	NC_000003.12:g.52229777T>A	TOPMed,gnomAD
TWF2	Q6IBS0	p.Ser258Cys	rs765236477	missense variant	-	NC_000003.12:g.52229770G>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Met259Ile	rs1441845433	missense variant	-	NC_000003.12:g.52229766C>A	gnomAD
TWF2	Q6IBS0	p.Pro260Leu	rs753740098	missense variant	-	NC_000003.12:g.52229764G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Pro260Thr	rs755045431	missense variant	-	NC_000003.12:g.52229765G>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Tyr262Asn	rs1393775004	missense variant	-	NC_000003.12:g.52229759A>T	gnomAD
TWF2	Q6IBS0	p.Ser265Asn	rs1469803915	missense variant	-	NC_000003.12:g.52229749C>T	TOPMed
TWF2	Q6IBS0	p.Ile266Val	rs773055657	missense variant	-	NC_000003.12:g.52229747T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Glu268Lys	rs767283869	missense variant	-	NC_000003.12:g.52229741C>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg269Ter	rs761464663	stop gained	-	NC_000003.12:g.52229738G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg269Gly	rs761464663	missense variant	-	NC_000003.12:g.52229738G>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Leu271Arg	rs1234517996	missense variant	-	NC_000003.12:g.52229731A>C	gnomAD
TWF2	Q6IBS0	p.Ser277Thr	rs773983527	missense variant	-	NC_000003.12:g.52229713C>G	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg278His	rs377753240	missense variant	-	NC_000003.12:g.52229710C>T	ESP,ExAC,gnomAD
TWF2	Q6IBS0	p.Arg278Cys	rs768077176	missense variant	-	NC_000003.12:g.52229711G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Leu279Arg	rs774834547	missense variant	-	NC_000003.12:g.52229707A>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Leu280Ile	rs1212434012	missense variant	-	NC_000003.12:g.52229705G>T	gnomAD
TWF2	Q6IBS0	p.Asp281Asn	rs778298315	missense variant	-	NC_000003.12:g.52229702C>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Asp281Tyr	rs778298315	missense variant	-	NC_000003.12:g.52229702C>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Val283Met	rs748412790	missense variant	-	NC_000003.12:g.52229696C>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Glu284Gly	rs1022503863	missense variant	-	NC_000003.12:g.52229692T>C	gnomAD
TWF2	Q6IBS0	p.Phe287Leu	rs1447752276	missense variant	-	NC_000003.12:g.52229682G>C	gnomAD
TWF2	Q6IBS0	p.His288Asn	rs1366874935	missense variant	-	NC_000003.12:g.52229681G>T	TOPMed
TWF2	Q6IBS0	p.His288Arg	rs147578749	missense variant	-	NC_000003.12:g.52229680T>C	ESP,TOPMed
TWF2	Q6IBS0	p.Ala292Thr	rs773855153	missense variant	-	NC_000003.12:g.52229669C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala292Ser	rs773855153	missense variant	-	NC_000003.12:g.52229669C>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Lys294Asn	rs1350402849	missense variant	-	NC_000003.12:g.52229661T>G	gnomAD
TWF2	Q6IBS0	p.Ile295Thr	rs141176698	missense variant	-	NC_000003.12:g.52229200A>G	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ile297Thr	rs910416866	missense variant	-	NC_000003.12:g.52229194A>G	TOPMed
TWF2	Q6IBS0	p.Asp299His	rs757554430	missense variant	-	NC_000003.12:g.52229189C>G	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Asp299Gly	rs768841701	missense variant	-	NC_000003.12:g.52229188T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Asp299Asn	rs757554430	missense variant	-	NC_000003.12:g.52229189C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Glu302Lys	rs1353478332	missense variant	-	NC_000003.12:g.52229180C>T	gnomAD
TWF2	Q6IBS0	p.Glu302Gly	rs780205713	missense variant	-	NC_000003.12:g.52229179T>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Thr304Met	rs751974151	missense variant	-	NC_000003.12:g.52229173G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala305Thr	rs1194970927	missense variant	-	NC_000003.12:g.52229171C>T	gnomAD
TWF2	Q6IBS0	p.Tyr309Asp	rs781247855	missense variant	-	NC_000003.12:g.52229159A>C	ExAC,gnomAD
TWF2	Q6IBS0	p.Asp310Asn	rs1483697650	missense variant	-	NC_000003.12:g.52229156C>T	TOPMed,gnomAD
TWF2	Q6IBS0	p.Glu311Ala	rs758088169	missense variant	-	NC_000003.12:g.52229152T>G	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Glu311Gly	rs758088169	missense variant	-	NC_000003.12:g.52229152T>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Glu311Lys	rs777630618	missense variant	-	NC_000003.12:g.52229153C>T	ExAC
TWF2	Q6IBS0	p.Val312Met	rs139604047	missense variant	-	NC_000003.12:g.52229150C>T	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.His313Asn	COSM4118970	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.52229147G>T	NCI-TCGA Cosmic
TWF2	Q6IBS0	p.His313Tyr	rs759231820	missense variant	-	NC_000003.12:g.52229147G>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Pro314Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.52229143G>C	NCI-TCGA
TWF2	Q6IBS0	p.His317Leu	rs1170950787	missense variant	-	NC_000003.12:g.52229134T>A	TOPMed
TWF2	Q6IBS0	p.Ala318Thr	rs199609796	missense variant	-	NC_000003.12:g.52229132C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Phe319Ile	rs769092327	missense variant	-	NC_000003.12:g.52229129A>T	ExAC,gnomAD
TWF2	Q6IBS0	p.Phe319Leu	rs563925974	missense variant	-	NC_000003.12:g.52229127G>C	1000Genomes
TWF2	Q6IBS0	p.Lys320Met	rs763175474	missense variant	-	NC_000003.12:g.52229125T>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Gln321Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.52229123G>A	NCI-TCGA
TWF2	Q6IBS0	p.Ala322Pro	rs775804839	missense variant	-	NC_000003.12:g.52229120C>G	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala322Thr	rs775804839	missense variant	-	NC_000003.12:g.52229120C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala324Pro	rs146346029	missense variant	-	NC_000003.12:g.52229114C>G	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Ala324Thr	rs146346029	missense variant	-	NC_000003.12:g.52229114C>T	ESP,ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Lys327Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.52229103C>A	NCI-TCGA
TWF2	Q6IBS0	p.Gly330Arg	rs770850774	missense variant	-	NC_000003.12:g.52229096C>G	ExAC,gnomAD
TWF2	Q6IBS0	p.Arg333Gln	rs1250103876	missense variant	-	NC_000003.12:g.52229086C>T	gnomAD
TWF2	Q6IBS0	p.Arg333Trp	rs1361922183	missense variant	-	NC_000003.12:g.52229087G>A	TOPMed
TWF2	Q6IBS0	p.Gly334Val	rs747001066	missense variant	-	NC_000003.12:g.52229083C>A	ExAC,gnomAD
TWF2	Q6IBS0	p.Gly334Ser	rs1176955582	missense variant	-	NC_000003.12:g.52229084C>T	gnomAD
TWF2	Q6IBS0	p.His335Arg	rs375566784	missense variant	-	NC_000003.12:g.52229080T>C	ESP,ExAC,gnomAD
TWF2	Q6IBS0	p.His335Tyr	rs1024011775	missense variant	-	NC_000003.12:g.52229081G>A	TOPMed,gnomAD
TWF2	Q6IBS0	p.Lys336Arg	rs766590581	missense variant	-	NC_000003.12:g.52229077T>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg340His	rs778846446	missense variant	-	NC_000003.12:g.52229065C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Arg340Cys	rs747995759	missense variant	-	NC_000003.12:g.52229066G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gly341Cys	rs753481915	missense variant	-	NC_000003.12:g.52229063C>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gly341Ser	rs753481915	missense variant	-	NC_000003.12:g.52229063C>T	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Gly341Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.52229062C>G	NCI-TCGA
TWF2	Q6IBS0	p.Pro342Leu	rs765914663	missense variant	-	NC_000003.12:g.52229059G>A	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Pro342Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.52229060G>A	NCI-TCGA
TWF2	Q6IBS0	p.Gly343Val	rs1324627334	missense variant	-	NC_000003.12:g.52229056C>A	gnomAD
TWF2	Q6IBS0	p.Asn345Ser	rs764551812	missense variant	-	NC_000003.12:g.52229050T>C	ExAC,TOPMed,gnomAD
TWF2	Q6IBS0	p.Asp348Asn	rs1295749049	missense variant	-	NC_000003.12:g.52229042C>T	gnomAD
TWF2	Q6IBS0	p.Ser349Ile	rs1028237121	missense variant	-	NC_000003.12:g.52229038C>A	TOPMed
GRHL2	Q6ISB3	p.Asn7His	rs1272736219	missense variant	-	NC_000008.11:g.101492788A>C	gnomAD
GRHL2	Q6ISB3	p.Asn8Asp	rs1210864412	missense variant	-	NC_000008.11:g.101543242A>G	gnomAD
GRHL2	Q6ISB3	p.Lys9Arg	rs3735709	missense variant	-	NC_000008.11:g.101543246A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Lys9Arg	RCV000039462	missense variant	-	NC_000008.11:g.101543246A>G	ClinVar
GRHL2	Q6ISB3	p.Lys9Ile	rs3735709	missense variant	-	NC_000008.11:g.101543246A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg10Thr	rs1486388579	missense variant	-	NC_000008.11:g.101543249G>C	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Leu11Val	rs1190914843	missense variant	-	NC_000008.11:g.101543251C>G	gnomAD
GRHL2	Q6ISB3	p.Leu11Pro	rs1212754842	missense variant	-	NC_000008.11:g.101543252T>C	TOPMed
GRHL2	Q6ISB3	p.Val12Leu	rs749906501	missense variant	-	NC_000008.11:g.101543254G>T	-
GRHL2	Q6ISB3	p.Val12Ala	rs1475540636	missense variant	-	NC_000008.11:g.101543255T>C	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val12Leu	RCV000416587	missense variant	-	NC_000008.11:g.101543254G>T	ClinVar
GRHL2	Q6ISB3	p.Leu14Val	rs759826730	missense variant	-	NC_000008.11:g.101543260T>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Leu14Ser	rs1465250466	missense variant	-	NC_000008.11:g.101543261T>C	gnomAD
GRHL2	Q6ISB3	p.Met17Thr	rs760997445	missense variant	-	NC_000008.11:g.101543270T>C	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Met17Val	rs752980201	missense variant	-	NC_000008.11:g.101543269A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Met17Arg	rs760997445	missense variant	-	NC_000008.11:g.101543270T>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Met17Lys	rs760997445	missense variant	-	NC_000008.11:g.101543270T>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Pro18Ala	rs1416651218	missense variant	-	NC_000008.11:g.101543272C>G	gnomAD
GRHL2	Q6ISB3	p.Ser19Gly	rs756952344	missense variant	-	NC_000008.11:g.101543275A>G	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Asp20Asn	rs1228510789	missense variant	-	NC_000008.11:g.101543278G>A	gnomAD
GRHL2	Q6ISB3	p.Pro21Thr	rs898759692	missense variant	-	NC_000008.11:g.101543281C>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Pro22Leu	rs754025898	missense variant	-	NC_000008.11:g.101543285C>T	ExAC
GRHL2	Q6ISB3	p.Phe23Leu	rs778497540	missense variant	-	NC_000008.11:g.101543289C>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Asn24Ser	rs1234161077	missense variant	-	NC_000008.11:g.101543291A>G	gnomAD
GRHL2	Q6ISB3	p.Thr25Asn	rs995483376	missense variant	-	NC_000008.11:g.101543294C>A	TOPMed
GRHL2	Q6ISB3	p.Thr25Ile	rs995483376	missense variant	-	NC_000008.11:g.101543294C>T	TOPMed
GRHL2	Q6ISB3	p.Arg26Gln	rs750332552	missense variant	-	NC_000008.11:g.101543297G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg27Lys	rs758153213	missense variant	-	NC_000008.11:g.101543300G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Arg27Ser	rs779951984	missense variant	-	NC_000008.11:g.101543301A>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ala28Gly	RCV000613350	missense variant	-	NC_000008.11:g.101543303C>G	ClinVar
GRHL2	Q6ISB3	p.Ala28Gly	rs561693958	missense variant	-	NC_000008.11:g.101543303C>G	1000Genomes,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ala28Val	rs561693958	missense variant	-	NC_000008.11:g.101543303C>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ala35Val	rs1453534554	missense variant	-	NC_000008.11:g.101543324C>T	gnomAD
GRHL2	Q6ISB3	p.Gly65Ser	rs1440566501	missense variant	-	NC_000008.11:g.101543413G>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Tyr68Cys	rs772426012	missense variant	-	NC_000008.11:g.101543423A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Val73Ile	rs199713024	missense variant	-	NC_000008.11:g.101552715G>A	ESP,ExAC,TOPMed
GRHL2	Q6ISB3	p.Asp76Glu	rs373113216	missense variant	-	NC_000008.11:g.101552726C>G	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg78Lys	rs753401708	missense variant	-	NC_000008.11:g.101552731G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val82Ile	rs780639699	missense variant	-	NC_000008.11:g.101552742G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val82Leu	rs780639699	missense variant	-	NC_000008.11:g.101552742G>C	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser83Ile	rs1381368075	missense variant	-	NC_000008.11:g.101552746G>T	gnomAD
GRHL2	Q6ISB3	p.Ala85Val	rs747466435	missense variant	-	NC_000008.11:g.101552752C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Asp87Tyr	rs1279463107	missense variant	-	NC_000008.11:g.101552757G>T	gnomAD
GRHL2	Q6ISB3	p.Asp87Glu	rs769261171	missense variant	-	NC_000008.11:g.101552759C>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser88Arg	rs781720355	missense variant	-	NC_000008.11:g.101552762C>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Glu90Asp	rs568846257	missense variant	-	NC_000008.11:g.101552768A>C	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Cys97Gly	rs1220524225	missense variant	-	NC_000008.11:g.101558423T>G	TOPMed
GRHL2	Q6ISB3	p.Gly99Ser	rs575214822	missense variant	-	NC_000008.11:g.101558429G>A	1000Genomes
GRHL2	Q6ISB3	p.Thr100Ala	rs781762121	missense variant	-	NC_000008.11:g.101558432A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser101Arg	rs140106332	missense variant	-	NC_000008.11:g.101558437T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser101Gly	rs748541350	missense variant	-	NC_000008.11:g.101558435A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Asn106Ser	rs1277663157	missense variant	-	NC_000008.11:g.101558451A>G	gnomAD
GRHL2	Q6ISB3	p.Leu107Met	rs1048525846	missense variant	-	NC_000008.11:g.101558453T>A	gnomAD
GRHL2	Q6ISB3	p.Leu107Met	RCV000610408	missense variant	-	NC_000008.11:g.101558453T>A	ClinVar
GRHL2	Q6ISB3	p.Leu107Phe	rs749425038	missense variant	-	NC_000008.11:g.101558455G>C	ExAC,gnomAD
GRHL2	Q6ISB3	p.Gly109Glu	rs771165764	missense variant	-	NC_000008.11:g.101558460G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Arg113Pro	rs774477960	missense variant	-	NC_000008.11:g.101558472G>C	ExAC,gnomAD
GRHL2	Q6ISB3	p.Arg113Gln	rs774477960	missense variant	-	NC_000008.11:g.101558472G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Arg113Ter	rs1350802574	stop gained	-	NC_000008.11:g.101558471C>T	gnomAD
GRHL2	Q6ISB3	p.Val114Ala	rs1272920545	missense variant	-	NC_000008.11:g.101558475T>C	gnomAD
GRHL2	Q6ISB3	p.Val120Ile	rs1470076809	missense variant	-	NC_000008.11:g.101558492G>A	gnomAD
GRHL2	Q6ISB3	p.Val120Ala	rs1004792596	missense variant	-	NC_000008.11:g.101558493T>C	TOPMed
GRHL2	Q6ISB3	p.Pro121Ala	rs772007070	missense variant	-	NC_000008.11:g.101558495C>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Leu124Val	rs1409594179	missense variant	-	NC_000008.11:g.101558504C>G	gnomAD
GRHL2	Q6ISB3	p.Ser125Ala	RCV000039463	missense variant	-	NC_000008.11:g.101558507T>G	ClinVar
GRHL2	Q6ISB3	p.Ser125Ala	rs145518215	missense variant	-	NC_000008.11:g.101558507T>G	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Leu126Ile	rs760549817	missense variant	-	NC_000008.11:g.101558510C>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Leu126Val	rs760549817	missense variant	-	NC_000008.11:g.101558510C>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Asp129Asn	rs763747097	missense variant	-	NC_000008.11:g.101558519G>A	ExAC
GRHL2	Q6ISB3	p.His130Pro	rs761410828	missense variant	-	NC_000008.11:g.101558523A>C	ExAC
GRHL2	Q6ISB3	p.Leu131Pro	rs1056249969	missense variant	-	NC_000008.11:g.101558526T>C	TOPMed
GRHL2	Q6ISB3	p.Glu132Asp	rs1462778035	missense variant	-	NC_000008.11:g.101558530G>T	gnomAD
GRHL2	Q6ISB3	p.Arg136Gln	rs1371975855	missense variant	-	NC_000008.11:g.101558541G>A	TOPMed
GRHL2	Q6ISB3	p.Arg136Trp	rs764979598	missense variant	-	NC_000008.11:g.101558540C>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Glu137Gln	rs1442922553	missense variant	-	NC_000008.11:g.101558543G>C	gnomAD
GRHL2	Q6ISB3	p.Glu137Lys	rs1442922553	missense variant	-	NC_000008.11:g.101558543G>A	gnomAD
GRHL2	Q6ISB3	p.Gln138Glu	rs757924064	missense variant	-	NC_000008.11:g.101558546C>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Tyr139His	rs1304299309	missense variant	-	NC_000008.11:g.101558549T>C	gnomAD
GRHL2	Q6ISB3	p.Ser140Asn	rs753218880	missense variant	-	NC_000008.11:g.101558553G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ile150Ser	rs727504883	missense variant	-	NC_000008.11:g.101558583T>G	-
GRHL2	Q6ISB3	p.Ile150Ser	RCV000156257	missense variant	-	NC_000008.11:g.101558583T>G	ClinVar
GRHL2	Q6ISB3	p.Pro151Leu	rs1394251742	missense variant	-	NC_000008.11:g.101558586C>T	TOPMed
GRHL2	Q6ISB3	p.Val152Ala	rs779045315	missense variant	-	NC_000008.11:g.101558589T>C	ExAC,gnomAD
GRHL2	Q6ISB3	p.Val152Met	rs147703146	missense variant	-	NC_000008.11:g.101558588G>A	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser153Thr	rs1253301940	missense variant	-	NC_000008.11:g.101558591T>A	gnomAD
GRHL2	Q6ISB3	p.Ser153Leu	rs745948995	missense variant	-	NC_000008.11:g.101558592C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Gly154Val	rs772099208	missense variant	-	NC_000008.11:g.101558595G>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Gly154Ala	rs772099208	missense variant	-	NC_000008.11:g.101558595G>C	ExAC,gnomAD
GRHL2	Q6ISB3	p.Thr156Ala	rs746967102	missense variant	-	NC_000008.11:g.101558600A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Thr156Lys	rs1165937150	missense variant	-	NC_000008.11:g.101558601C>A	gnomAD
GRHL2	Q6ISB3	p.Ala160Ser	rs776359158	missense variant	-	NC_000008.11:g.101558612G>T	ExAC
GRHL2	Q6ISB3	p.Ala160Gly	rs1484576366	missense variant	-	NC_000008.11:g.101558613C>G	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Glu161Lys	rs1418600495	missense variant	-	NC_000008.11:g.101558615G>A	gnomAD
GRHL2	Q6ISB3	p.Asp162Asn	rs561352646	missense variant	-	NC_000008.11:g.101558618G>A	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Phe167Tyr	rs1172496499	missense variant	-	NC_000008.11:g.101558634T>A	gnomAD
GRHL2	Q6ISB3	p.Tyr174Cys	rs757542366	missense variant	-	NC_000008.11:g.101558655A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Pro175Thr	rs1312356038	missense variant	-	NC_000008.11:g.101558657C>A	gnomAD
GRHL2	Q6ISB3	p.Pro175His	rs1356330340	missense variant	-	NC_000008.11:g.101558658C>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Pro175Leu	rs1356330340	missense variant	-	NC_000008.11:g.101558658C>T	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg176Gln	rs772933548	missense variant	-	NC_000008.11:g.101558661G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg176Trp	rs1450530282	missense variant	-	NC_000008.11:g.101558660C>T	gnomAD
GRHL2	Q6ISB3	p.Gly177Arg	rs762588173	missense variant	-	NC_000008.11:g.101558663G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Glu181Asp	rs200674096	missense variant	-	NC_000008.11:g.101558677G>T	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg183Gln	rs142411476	missense variant	-	NC_000008.11:g.101558682G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg183Gln	RCV000155125	missense variant	-	NC_000008.11:g.101558682G>A	ClinVar
GRHL2	Q6ISB3	p.Ile186Val	rs1209450344	missense variant	-	NC_000008.11:g.101558690A>G	gnomAD
GRHL2	Q6ISB3	p.Ile186Met	rs764647109	missense variant	-	NC_000008.11:g.101558692C>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Phe187Val	rs1338678588	missense variant	-	NC_000008.11:g.101558693T>G	TOPMed
GRHL2	Q6ISB3	p.Gln189Arg	rs754164344	missense variant	-	NC_000008.11:g.101558700A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr190Ala	rs757547292	missense variant	-	NC_000008.11:g.101558702A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Gln191Arg	rs377685568	missense variant	-	NC_000008.11:g.101558706A>G	ESP,ExAC,gnomAD
GRHL2	Q6ISB3	p.Tyr192Cys	rs746040300	missense variant	-	NC_000008.11:g.101558709A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val194Met	rs962126399	missense variant	-	NC_000008.11:g.101558714G>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Pro195Leu	rs1173070092	missense variant	-	NC_000008.11:g.101558718C>T	gnomAD
GRHL2	Q6ISB3	p.Ala198Thr	rs1158196831	missense variant	-	NC_000008.11:g.101558726G>A	TOPMed
GRHL2	Q6ISB3	p.Thr199Asn	rs371212649	missense variant	-	NC_000008.11:g.101558730C>A	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr199Ile	rs371212649	missense variant	-	NC_000008.11:g.101558730C>T	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ala202Ser	rs769672381	missense variant	-	NC_000008.11:g.101558738G>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Tyr203Cys	rs1184243308	missense variant	-	NC_000008.11:g.101558742A>G	TOPMed
GRHL2	Q6ISB3	p.Asp206Glu	rs773025507	missense variant	-	NC_000008.11:g.101558752C>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Asp207Tyr	rs1241773797	missense variant	-	NC_000008.11:g.101558753G>T	TOPMed
GRHL2	Q6ISB3	p.Arg209Cys	rs762747676	missense variant	-	NC_000008.11:g.101558759C>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr211Pro	rs773803090	missense variant	-	NC_000008.11:g.101558765A>C	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Pro212Gln	rs1202888034	missense variant	-	NC_000008.11:g.101558769C>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Pro212Arg	rs1202888034	missense variant	-	NC_000008.11:g.101558769C>G	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Asp213Asn	rs548008385	missense variant	-	NC_000008.11:g.101558771G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Asp213Glu	rs532798712	missense variant	-	NC_000008.11:g.101558773C>G	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Asp213His	rs548008385	missense variant	-	NC_000008.11:g.101558771G>C	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser214Asn	rs199931364	missense variant	-	NC_000008.11:g.101558775G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser214Asn	RCV000218162	missense variant	-	NC_000008.11:g.101558775G>A	ClinVar
GRHL2	Q6ISB3	p.Thr215Pro	rs866073170	missense variant	-	NC_000008.11:g.101558777A>C	TOPMed
GRHL2	Q6ISB3	p.Thr215Ala	rs866073170	missense variant	-	NC_000008.11:g.101558777A>G	TOPMed
GRHL2	Q6ISB3	p.Tyr216His	rs1354733915	missense variant	-	NC_000008.11:g.101558780T>C	gnomAD
GRHL2	Q6ISB3	p.Asp222Glu	rs750753608	missense variant	-	NC_000008.11:g.101558800C>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ala223Ser	rs766917145	missense variant	-	NC_000008.11:g.101558801G>T	gnomAD
GRHL2	Q6ISB3	p.Ala224Ser	rs1479018939	missense variant	-	NC_000008.11:g.101558804G>T	gnomAD
GRHL2	Q6ISB3	p.Ala224Pro	rs1479018939	missense variant	-	NC_000008.11:g.101558804G>C	gnomAD
GRHL2	Q6ISB3	p.Ala224Asp	rs1156913048	missense variant	-	NC_000008.11:g.101558805C>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr225Ile	rs1345540956	missense variant	-	NC_000008.11:g.101558808C>T	TOPMed
GRHL2	Q6ISB3	p.Thr225Ala	rs758685132	missense variant	-	NC_000008.11:g.101558807A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg229Gln	rs545333440	missense variant	-	NC_000008.11:g.101570346G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg229Trp	rs766515922	missense variant	-	NC_000008.11:g.101570345C>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg229Trp	RCV000616467	missense variant	-	NC_000008.11:g.101570345C>T	ClinVar
GRHL2	Q6ISB3	p.Ser230Asn	rs140423160	missense variant	-	NC_000008.11:g.101570349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser230Thr	rs140423160	missense variant	-	NC_000008.11:g.101570349G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser230Asn	RCV000039465	missense variant	-	NC_000008.11:g.101570349G>A	ClinVar
GRHL2	Q6ISB3	p.Ala231Ser	rs781385697	missense variant	-	NC_000008.11:g.101570351G>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Val233Phe	rs576429179	missense variant	-	NC_000008.11:g.101570357G>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val233Ala	rs1337356030	missense variant	-	NC_000008.11:g.101570358T>C	gnomAD
GRHL2	Q6ISB3	p.Ala235Ser	rs1304118890	missense variant	-	NC_000008.11:g.101570363G>T	TOPMed
GRHL2	Q6ISB3	p.Glu237Lys	rs749096635	missense variant	-	NC_000008.11:g.101570369G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Met239Leu	rs370430018	missense variant	-	NC_000008.11:g.101570375A>C	ESP,ExAC,gnomAD
GRHL2	Q6ISB3	p.Met239Val	rs370430018	missense variant	-	NC_000008.11:g.101570375A>G	ESP,ExAC,gnomAD
GRHL2	Q6ISB3	p.Asp241Val	rs745582416	missense variant	-	NC_000008.11:g.101570382A>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Thr243Ser	rs771592503	missense variant	-	NC_000008.11:g.101570387A>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr243Ala	rs771592503	missense variant	-	NC_000008.11:g.101570387A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr243Ile	rs899684005	missense variant	-	NC_000008.11:g.101570388C>T	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser245Gly	rs1167802678	missense variant	-	NC_000008.11:g.101570393A>G	gnomAD
GRHL2	Q6ISB3	p.Phe248Ser	rs1432246375	missense variant	-	NC_000008.11:g.101573676T>C	gnomAD
GRHL2	Q6ISB3	p.Gln249Pro	rs1171190689	missense variant	-	NC_000008.11:g.101573679A>C	gnomAD
GRHL2	Q6ISB3	p.Tyr250Cys	rs758125427	missense variant	-	NC_000008.11:g.101573682A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Thr251Ile	rs779623350	missense variant	-	NC_000008.11:g.101573685C>T	ExAC,TOPMed
GRHL2	Q6ISB3	p.Thr251Asn	rs779623350	missense variant	-	NC_000008.11:g.101573685C>A	ExAC,TOPMed
GRHL2	Q6ISB3	p.Leu252Val	rs746527351	missense variant	-	NC_000008.11:g.101573687C>G	ExAC,TOPMed
GRHL2	Q6ISB3	p.Leu252Met	rs746527351	missense variant	-	NC_000008.11:g.101573687C>A	ExAC,TOPMed
GRHL2	Q6ISB3	p.Ala254Val	rs768116402	missense variant	-	NC_000008.11:g.101573694C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Thr255Ala	rs773730773	missense variant	-	NC_000008.11:g.101573696A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Leu258Pro	rs1416497422	missense variant	-	NC_000008.11:g.101573706T>C	TOPMed
GRHL2	Q6ISB3	p.Arg259Cys	rs923030287	missense variant	-	NC_000008.11:g.101573708C>T	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg259His	rs200976297	missense variant	-	NC_000008.11:g.101573709G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Gln262Glu	rs1215612983	missense variant	-	NC_000008.11:g.101573717C>G	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Gly265Arg	rs759808546	missense variant	-	NC_000008.11:g.101573726G>C	ExAC,gnomAD
GRHL2	Q6ISB3	p.Met267Ter	RCV000487664	frameshift	-	NC_000008.11:g.101573734del	ClinVar
GRHL2	Q6ISB3	p.Thr268Ile	rs767796163	missense variant	-	NC_000008.11:g.101573736C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Gln274Arg	rs1451859312	missense variant	-	NC_000008.11:g.101573754A>G	gnomAD
GRHL2	Q6ISB3	p.Gln274Lys	rs372462384	missense variant	-	NC_000008.11:g.101573753C>A	ESP
GRHL2	Q6ISB3	p.Phe275Leu	rs1032621653	missense variant	-	NC_000008.11:g.101573756T>C	TOPMed
GRHL2	Q6ISB3	p.Ala277Asp	rs1232215185	missense variant	-	NC_000008.11:g.101573763C>A	TOPMed
GRHL2	Q6ISB3	p.Ile278Val	rs764313654	missense variant	-	NC_000008.11:g.101573765A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Glu282Gly	rs765070751	missense variant	-	NC_000008.11:g.101573778A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Gly284Arg	rs779714193	missense variant	-	NC_000008.11:g.101573783G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Asn286Asp	rs746616786	missense variant	-	NC_000008.11:g.101573789A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg290Pro	rs375445375	missense variant	-	NC_000008.11:g.101573802G>C	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg290Leu	rs375445375	missense variant	-	NC_000008.11:g.101573802G>T	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg290Gln	rs375445375	missense variant	-	NC_000008.11:g.101573802G>A	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.His291Arg	rs1296924471	missense variant	-	NC_000008.11:g.101573805A>G	TOPMed
GRHL2	Q6ISB3	p.His291Gln	rs771529678	missense variant	-	NC_000008.11:g.101573806C>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser294Arg	rs1315339486	missense variant	-	NC_000008.11:g.101573815C>G	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Lys295Gln	rs775971734	missense variant	-	NC_000008.11:g.101573816A>C	ExAC,gnomAD
GRHL2	Q6ISB3	p.Val299Met	rs1414323665	missense variant	-	NC_000008.11:g.101577411G>A	gnomAD
GRHL2	Q6ISB3	p.Met301Ile	rs772671499	missense variant	-	NC_000008.11:g.101577419G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser305Thr	rs376663921	missense variant	-	NC_000008.11:g.101577430G>C	ESP,ExAC,gnomAD
GRHL2	Q6ISB3	p.Asn309Ser	rs747364242	missense variant	-	NC_000008.11:g.101577442A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Arg310Lys	rs1308720963	missense variant	-	NC_000008.11:g.101577445G>A	gnomAD
GRHL2	Q6ISB3	p.Asp311Tyr	rs769011518	missense variant	-	NC_000008.11:g.101577447G>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Leu314Val	rs1413219814	missense variant	-	NC_000008.11:g.101577456C>G	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Tyr319His	rs889283934	missense variant	-	NC_000008.11:g.101577471T>C	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Tyr319Cys	rs1439039937	missense variant	-	NC_000008.11:g.101577472A>G	TOPMed
GRHL2	Q6ISB3	p.Arg323Gln	rs140348170	missense variant	-	NC_000008.11:g.101577484G>A	ESP,ExAC,gnomAD
GRHL2	Q6ISB3	p.Ala327Val	rs773319502	missense variant	-	NC_000008.11:g.101577496C>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ala327Thr	rs769715635	missense variant	-	NC_000008.11:g.101577495G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Asp336Asn	rs145433541	missense variant	-	NC_000008.11:g.101599059G>A	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser340Arg	rs536807009	missense variant	-	NC_000008.11:g.101599073C>A	gnomAD
GRHL2	Q6ISB3	p.Thr343Met	rs376701859	missense variant	-	NC_000008.11:g.101599081C>T	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr343Arg	rs376701859	missense variant	-	NC_000008.11:g.101599081C>G	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ile344Thr	rs1380523509	missense variant	-	NC_000008.11:g.101599084T>C	TOPMed
GRHL2	Q6ISB3	p.Gly345Glu	rs755522032	missense variant	-	NC_000008.11:g.101599087G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ile347Val	rs781449979	missense variant	-	NC_000008.11:g.101599092A>G	ExAC
GRHL2	Q6ISB3	p.Glu349Asp	rs1231804618	missense variant	-	NC_000008.11:g.101599100G>T	gnomAD
GRHL2	Q6ISB3	p.Tyr352Cys	rs1346671644	missense variant	-	NC_000008.11:g.101599108A>G	gnomAD
GRHL2	Q6ISB3	p.Asn353Ser	rs137950884	missense variant	-	NC_000008.11:g.101599111A>G	ESP,ExAC,gnomAD
GRHL2	Q6ISB3	p.Val355Leu	rs1398906044	missense variant	-	NC_000008.11:g.101599116G>C	gnomAD
GRHL2	Q6ISB3	p.Asp360Glu	rs772172966	missense variant	-	NC_000008.11:g.101599133C>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val361Met	rs770962467	missense variant	-	NC_000008.11:g.101599134G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val361Met	RCV000604007	missense variant	-	NC_000008.11:g.101599134G>A	ClinVar
GRHL2	Q6ISB3	p.Asn362Ser	rs774388485	missense variant	-	NC_000008.11:g.101599138A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ala365Val	rs775404836	missense variant	-	NC_000008.11:g.101599147C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ala365Glu	rs775404836	missense variant	-	NC_000008.11:g.101599147C>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Lys366Met	rs775204214	missense variant	-	NC_000008.11:g.101599150A>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ile369Val	rs745932717	missense variant	-	NC_000008.11:g.101619545A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val371Met	rs779974367	missense variant	-	NC_000008.11:g.101619551G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Met390Val	rs1350523050	missense variant	-	NC_000008.11:g.101619608A>G	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ile391Val	rs769568051	missense variant	-	NC_000008.11:g.101619611A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Gln392Leu	rs1337376768	missense variant	-	NC_000008.11:g.101619615A>T	gnomAD
GRHL2	Q6ISB3	p.Gln392His	rs772917099	missense variant	-	NC_000008.11:g.101619616G>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser397Gly	rs767917399	missense variant	-	NC_000008.11:g.101619629A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Tyr398His	rs587777737	missense variant	-	NC_000008.11:g.101619632T>C	-
GRHL2	Q6ISB3	p.Tyr398His	rs587777737	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101619632T>C	UniProt,dbSNP
GRHL2	Q6ISB3	p.Tyr398His	VAR_071989	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101619632T>C	UniProt
GRHL2	Q6ISB3	p.Tyr398His	RCV000144237	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101619632T>C	ClinVar
GRHL2	Q6ISB3	p.Asn399Ile	rs753211696	missense variant	-	NC_000008.11:g.101619636A>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Asn400Ser	rs1405412333	missense variant	-	NC_000008.11:g.101619639A>G	TOPMed
GRHL2	Q6ISB3	p.Arg401His	rs201327204	missense variant	-	NC_000008.11:g.101619642G>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Pro405Ser	rs757530987	missense variant	-	NC_000008.11:g.101619653C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.His407Arg	rs1370676563	missense variant	-	NC_000008.11:g.101619660A>G	gnomAD
GRHL2	Q6ISB3	p.Arg408Thr	rs779047042	missense variant	-	NC_000008.11:g.101619663G>C	ExAC,gnomAD
GRHL2	Q6ISB3	p.Tyr410Asn	rs1166914123	missense variant	-	NC_000008.11:g.101619668T>A	TOPMed
GRHL2	Q6ISB3	p.Gln412Glu	rs1401075202	missense variant	-	NC_000008.11:g.101619674C>G	gnomAD
GRHL2	Q6ISB3	p.Gln412Pro	rs1396330781	missense variant	-	NC_000008.11:g.101619675A>C	gnomAD
GRHL2	Q6ISB3	p.Val415Ile	rs3779617	missense variant	-	NC_000008.11:g.101619683G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val415Phe	rs3779617	missense variant	-	NC_000008.11:g.101619683G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val415Ile	RCV000039459	missense variant	-	NC_000008.11:g.101619683G>A	ClinVar
GRHL2	Q6ISB3	p.Glu422Ter	RCV000760848	nonsense	-	NC_000008.11:g.101631643G>T	ClinVar
GRHL2	Q6ISB3	p.Glu422Ter	rs1027822378	stop gained	-	NC_000008.11:g.101631643G>T	-
GRHL2	Q6ISB3	p.Glu429Lys	rs750607556	missense variant	-	NC_000008.11:g.101631664G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Arg430Gln	rs375283208	missense variant	-	NC_000008.11:g.101631668G>A	ESP,ExAC,gnomAD
GRHL2	Q6ISB3	p.Arg430Trp	rs1456445530	missense variant	-	NC_000008.11:g.101631667C>T	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Asn433Ser	rs1288367085	missense variant	-	NC_000008.11:g.101631677A>G	TOPMed
GRHL2	Q6ISB3	p.Arg434Ser	rs751587432	missense variant	-	NC_000008.11:g.101631681G>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Lys435Arg	rs1375052724	missense variant	-	NC_000008.11:g.101631683A>G	gnomAD
GRHL2	Q6ISB3	p.Lys436Asn	rs755024772	missense variant	-	NC_000008.11:g.101631687A>C	ExAC,gnomAD
GRHL2	Q6ISB3	p.Gly439Asp	rs559594937	missense variant	-	NC_000008.11:g.101631695G>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Gln440His	rs1392201714	missense variant	-	NC_000008.11:g.101631699G>T	gnomAD
GRHL2	Q6ISB3	p.Ala441Pro	rs200016612	missense variant	-	NC_000008.11:g.101631700G>C	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Gln445His	rs777317774	missense variant	-	NC_000008.11:g.101631714A>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Gln445Arg	rs145717789	missense variant	-	NC_000008.11:g.101631713A>G	1000Genomes,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Cys446Gly	rs200563684	missense variant	-	NC_000008.11:g.101631715T>G	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Cys446Tyr	rs543526703	missense variant	-	NC_000008.11:g.101631716G>A	gnomAD
GRHL2	Q6ISB3	p.Asn447Lys	rs1319231591	missense variant	-	NC_000008.11:g.101631720C>A	gnomAD
GRHL2	Q6ISB3	p.Ser448Asn	rs773965261	missense variant	-	NC_000008.11:g.101631722G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser450Cys	rs771520662	missense variant	-	NC_000008.11:g.101632229C>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser450Phe	rs771520662	missense variant	-	NC_000008.11:g.101632229C>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser450Thr	rs141136371	missense variant	-	NC_000008.11:g.101632228T>A	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser450Thr	RCV000223159	missense variant	-	NC_000008.11:g.101632228T>A	ClinVar
GRHL2	Q6ISB3	p.Gly452Glu	rs1181071963	missense variant	-	NC_000008.11:g.101632235G>A	gnomAD
GRHL2	Q6ISB3	p.Ala456Gly	rs748693855	missense variant	-	NC_000008.11:g.101632247C>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ile457Met	rs1350245014	missense variant	-	NC_000008.11:g.101632251A>G	TOPMed
GRHL2	Q6ISB3	p.Leu459Ser	rs770280108	missense variant	-	NC_000008.11:g.101632256T>C	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Gln460Glu	rs150909082	missense variant	-	NC_000008.11:g.101632258C>G	ESP
GRHL2	Q6ISB3	p.Gln460His	rs942303644	missense variant	-	NC_000008.11:g.101632260G>C	TOPMed
GRHL2	Q6ISB3	p.Lys462Arg	rs534718497	missense variant	-	NC_000008.11:g.101632265A>G	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser463Arg	rs763171411	missense variant	-	NC_000008.11:g.101632269T>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr466Ile	rs750611454	missense variant	-	NC_000008.11:g.101632277C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Tyr467Phe	rs774399895	missense variant	-	NC_000008.11:g.101632280A>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Tyr467Cys	rs774399895	missense variant	-	NC_000008.11:g.101632280A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Thr470Asn	rs767758627	missense variant	-	NC_000008.11:g.101632289C>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr470Ile	rs767758627	missense variant	-	NC_000008.11:g.101632289C>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Met471Ile	rs1373053665	missense variant	-	NC_000008.11:g.101632293G>A	TOPMed
GRHL2	Q6ISB3	p.Met471Thr	rs1296085454	missense variant	-	NC_000008.11:g.101632292T>C	gnomAD
GRHL2	Q6ISB3	p.Asp473Asn	rs1435558991	missense variant	-	NC_000008.11:g.101632297G>A	gnomAD
GRHL2	Q6ISB3	p.Leu474Arg	rs1400871790	missense variant	-	NC_000008.11:g.101632301T>G	TOPMed
GRHL2	Q6ISB3	p.His475Leu	rs763876613	missense variant	-	NC_000008.11:g.101632304A>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser476Pro	rs1440405476	missense variant	-	NC_000008.11:g.101632306T>C	gnomAD
GRHL2	Q6ISB3	p.Gln477Pro	rs1383867730	missense variant	-	NC_000008.11:g.101632310A>C	TOPMed
GRHL2	Q6ISB3	p.Val479Phe	rs1157192008	missense variant	-	NC_000008.11:g.101632315G>T	TOPMed
GRHL2	Q6ISB3	p.Ile482Thr	rs587777738	missense variant	-	NC_000008.11:g.101632325T>C	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ile482Lys	rs587777738	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101632325T>A	UniProt,dbSNP
GRHL2	Q6ISB3	p.Ile482Lys	VAR_071990	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101632325T>A	UniProt
GRHL2	Q6ISB3	p.Ile482Lys	rs587777738	missense variant	-	NC_000008.11:g.101632325T>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ile482Lys	RCV000144238	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101632325T>A	ClinVar
GRHL2	Q6ISB3	p.Val485Ile	rs1419186366	missense variant	-	NC_000008.11:g.101632333G>A	TOPMed
GRHL2	Q6ISB3	p.Leu490Pro	rs1474531869	missense variant	-	NC_000008.11:g.101632349T>C	TOPMed
GRHL2	Q6ISB3	p.Leu490Met	rs756960152	missense variant	-	NC_000008.11:g.101632348C>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Gly494Arg	rs758015181	missense variant	-	NC_000008.11:g.101632360G>A	ExAC
GRHL2	Q6ISB3	p.Val496Met	rs140174831	missense variant	-	NC_000008.11:g.101636897G>A	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Tyr497Cys	rs779623787	missense variant	-	NC_000008.11:g.101636901A>G	ExAC
GRHL2	Q6ISB3	p.Tyr498His	rs1185938895	missense variant	-	NC_000008.11:g.101636903T>C	TOPMed
GRHL2	Q6ISB3	p.Thr500Ala	rs754407812	missense variant	-	NC_000008.11:g.101636909A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Thr500Met	rs200374682	missense variant	-	NC_000008.11:g.101636910C>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr500Lys	rs200374682	missense variant	-	NC_000008.11:g.101636910C>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr500Lys	RCV000336699	missense variant	-	NC_000008.11:g.101636910C>A	ClinVar
GRHL2	Q6ISB3	p.Asp501Asn	rs1430259512	missense variant	-	NC_000008.11:g.101636912G>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Glu503Lys	rs771441896	missense variant	-	NC_000008.11:g.101636918G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Arg504Gln	rs746173794	missense variant	-	NC_000008.11:g.101636922G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser508Asn	rs757766997	missense variant	-	NC_000008.11:g.101644136G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Arg513Gln	rs758783933	missense variant	-	NC_000008.11:g.101644151G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg513Trp	rs753005094	missense variant	-	NC_000008.11:g.101644150C>T	gnomAD
GRHL2	Q6ISB3	p.Met514Ile	rs1284330202	missense variant	-	NC_000008.11:g.101644155G>A	TOPMed
GRHL2	Q6ISB3	p.Arg516Gln	rs747234583	missense variant	-	NC_000008.11:g.101644160G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg516Pro	rs747234583	missense variant	-	NC_000008.11:g.101644160G>C	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Arg516Trp	rs780540983	missense variant	-	NC_000008.11:g.101644159C>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Glu519Gly	rs1309886585	missense variant	-	NC_000008.11:g.101644169A>G	TOPMed
GRHL2	Q6ISB3	p.Glu519Gln	rs1367233616	missense variant	-	NC_000008.11:g.101644168G>C	gnomAD
GRHL2	Q6ISB3	p.Glu520Lys	rs189786443	missense variant	-	NC_000008.11:g.101644171G>A	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Phe522Leu	rs748200768	missense variant	-	NC_000008.11:g.101644179T>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Val525Gly	rs773094510	missense variant	-	NC_000008.11:g.101644187T>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Gln529Lys	rs1332011279	missense variant	-	NC_000008.11:g.101644198C>A	gnomAD
GRHL2	Q6ISB3	p.Met530Lys	rs762760702	missense variant	-	NC_000008.11:g.101644202T>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Met530Thr	rs762760702	missense variant	-	NC_000008.11:g.101644202T>C	ExAC,gnomAD
GRHL2	Q6ISB3	p.Lys531Arg	rs766212596	missense variant	-	NC_000008.11:g.101644205A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr535Arg	rs1283775348	missense variant	-	NC_000008.11:g.101644217C>G	TOPMed
GRHL2	Q6ISB3	p.Thr535Ile	rs1283775348	missense variant	-	NC_000008.11:g.101644217C>T	TOPMed
GRHL2	Q6ISB3	p.Arg537Ter	rs1226294385	stop gained	-	NC_000008.11:g.101644222C>T	gnomAD
GRHL2	Q6ISB3	p.Arg537Ter	RCV000002279	frameshift	Deafness, autosomal dominant 28 (DFNA28)	NC_000008.11:g.101644222dup	ClinVar
GRHL2	Q6ISB3	p.Arg537Gln	rs774168395	missense variant	-	NC_000008.11:g.101644223G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Lys544Arg	rs766851451	missense variant	-	NC_000008.11:g.101649432A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr546Ile	rs755321189	missense variant	-	NC_000008.11:g.101649438C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Thr546Ala	rs751884216	missense variant	-	NC_000008.11:g.101649437A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Asp551Asn	rs148513345	missense variant	-	NC_000008.11:g.101649452G>A	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Met554Leu	rs745685793	missense variant	-	NC_000008.11:g.101649461A>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Lys561Glu	rs771944946	missense variant	-	NC_000008.11:g.101649482A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Met564Ile	rs369314800	missense variant	-	NC_000008.11:g.101649493G>T	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Met564Leu	rs200592171	missense variant	-	NC_000008.11:g.101649491A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Met564Leu	RCV000150801	missense variant	-	NC_000008.11:g.101649491A>T	ClinVar
GRHL2	Q6ISB3	p.Met564Ile	rs369314800	missense variant	-	NC_000008.11:g.101649493G>A	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ala566Thr	rs1188958009	missense variant	-	NC_000008.11:g.101649497G>A	gnomAD
GRHL2	Q6ISB3	p.Ala566Val	rs768421169	missense variant	-	NC_000008.11:g.101649498C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser568Ala	rs1299161941	missense variant	-	NC_000008.11:g.101664457T>G	gnomAD
GRHL2	Q6ISB3	p.Ser568Phe	rs1008258324	missense variant	-	NC_000008.11:g.101664458C>T	TOPMed
GRHL2	Q6ISB3	p.Tyr571Asn	rs775833439	missense variant	-	NC_000008.11:g.101664466T>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Gly572Glu	rs1181379838	missense variant	-	NC_000008.11:g.101664470G>A	TOPMed
GRHL2	Q6ISB3	p.Pro574Thr	rs1315010624	missense variant	-	NC_000008.11:g.101664475C>A	gnomAD
GRHL2	Q6ISB3	p.Val575Met	rs370196002	missense variant	-	NC_000008.11:g.101664478G>A	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val575Leu	rs370196002	missense variant	-	NC_000008.11:g.101664478G>C	ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Val575Met	RCV000039460	missense variant	-	NC_000008.11:g.101664478G>A	ClinVar
GRHL2	Q6ISB3	p.Lys577Arg	rs757402506	missense variant	-	NC_000008.11:g.101664485A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ala579Gly	rs765418316	missense variant	-	NC_000008.11:g.101664491C>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ala579Val	rs765418316	missense variant	-	NC_000008.11:g.101664491C>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Tyr582Ter	rs1234433012	stop gained	-	NC_000008.11:g.101664501C>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser585Asn	rs1182858317	missense variant	-	NC_000008.11:g.101664509G>A	gnomAD
GRHL2	Q6ISB3	p.Ser585Arg	rs1243691043	missense variant	-	NC_000008.11:g.101664510C>A	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ile589Val	rs1430840103	missense variant	-	NC_000008.11:g.101666590A>G	gnomAD
GRHL2	Q6ISB3	p.Val591Ala	rs184644903	missense variant	-	NC_000008.11:g.101666597T>C	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Asp595Asn	rs769149147	missense variant	-	NC_000008.11:g.101666608G>A	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Asn596Ile	rs776986245	missense variant	-	NC_000008.11:g.101666612A>T	ExAC,gnomAD
GRHL2	Q6ISB3	p.Asn596Asp	rs1435717250	missense variant	-	NC_000008.11:g.101666611A>G	gnomAD
GRHL2	Q6ISB3	p.Ile598Val	rs762026492	missense variant	-	NC_000008.11:g.101666617A>G	ExAC,gnomAD
GRHL2	Q6ISB3	p.Glu599Lys	rs773267486	missense variant	-	NC_000008.11:g.101666620G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser602Leu	rs1199108162	missense variant	-	NC_000008.11:g.101666630C>T	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Thr606Ile	rs1157282204	missense variant	-	NC_000008.11:g.101666642C>T	gnomAD
GRHL2	Q6ISB3	p.Ile608Val	rs1051997586	missense variant	-	NC_000008.11:g.101666647A>G	TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ser613Arg	rs576408861	missense variant	-	NC_000008.11:g.101666664C>A	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Ser613Arg	rs576408861	missense variant	-	NC_000008.11:g.101666664C>G	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Met614Arg	rs543806585	missense variant	-	NC_000008.11:g.101666666T>G	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Val615Met	rs756893302	missense variant	-	NC_000008.11:g.101666668G>A	ExAC,gnomAD
GRHL2	Q6ISB3	p.Glu616Gly	rs778464698	missense variant	-	NC_000008.11:g.101666672A>G	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Lys619Thr	rs200589830	missense variant	-	NC_000008.11:g.101666681A>C	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Lys619Glu	rs1351378617	missense variant	-	NC_000008.11:g.101666680A>G	gnomAD
GRHL2	Q6ISB3	p.Lys619Arg	rs200589830	missense variant	-	NC_000008.11:g.101666681A>G	1000Genomes,ExAC,gnomAD
GRHL2	Q6ISB3	p.Val620Ile	rs1392685967	missense variant	-	NC_000008.11:g.101666683G>A	gnomAD
GRHL2	Q6ISB3	p.Thr621Met	rs748576840	missense variant	-	NC_000008.11:g.101666687C>T	ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Met623Val	rs375747933	missense variant	-	NC_000008.11:g.101666692A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL2	Q6ISB3	p.Ile625Phe	rs763142693	missense variant	-	NC_000008.11:g.101666698A>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ala2Thr	rs1231609799	missense variant	-	NC_000004.12:g.16226454C>T	TOPMed
TAPT1	Q6NXT6	p.Ala2Val	rs1302327888	missense variant	-	NC_000004.12:g.16226453G>A	TOPMed
TAPT1	Q6NXT6	p.Gly3Ser	rs1230002834	missense variant	-	NC_000004.12:g.16226451C>T	TOPMed
TAPT1	Q6NXT6	p.Gly5Arg	rs966120453	missense variant	-	NC_000004.12:g.16226445C>G	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ala7Gly	rs1268967150	missense variant	-	NC_000004.12:g.16226438G>C	gnomAD
TAPT1	Q6NXT6	p.Ala8Val	rs1254947968	missense variant	-	NC_000004.12:g.16226435G>A	TOPMed
TAPT1	Q6NXT6	p.Ala8Ser	rs1367004171	missense variant	-	NC_000004.12:g.16226436C>A	TOPMed
TAPT1	Q6NXT6	p.Ala9Thr	rs1467246472	missense variant	-	NC_000004.12:g.16226433C>T	TOPMed
TAPT1	Q6NXT6	p.Pro10Leu	rs1193091078	missense variant	-	NC_000004.12:g.16226429G>A	TOPMed
TAPT1	Q6NXT6	p.Gly11Arg	rs1343254084	missense variant	-	NC_000004.12:g.16226427C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Glu12Lys	rs1371169744	missense variant	-	NC_000004.12:g.16226424C>T	TOPMed
TAPT1	Q6NXT6	p.Gly15Cys	rs893097016	missense variant	-	NC_000004.12:g.16226415C>A	TOPMed
TAPT1	Q6NXT6	p.Gly15Ser	rs893097016	missense variant	-	NC_000004.12:g.16226415C>T	TOPMed
TAPT1	Q6NXT6	p.Gly15Asp	rs1438001487	missense variant	-	NC_000004.12:g.16226414C>T	TOPMed
TAPT1	Q6NXT6	p.Gly17Asp	rs1055155801	missense variant	-	NC_000004.12:g.16226408C>T	TOPMed
TAPT1	Q6NXT6	p.Pro21Ser	rs1001779408	missense variant	-	NC_000004.12:g.16226397G>A	TOPMed
TAPT1	Q6NXT6	p.Asp24Glu	rs1350671190	missense variant	-	NC_000004.12:g.16226386G>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asp24Asn	rs1275520193	missense variant	-	NC_000004.12:g.16226388C>T	TOPMed
TAPT1	Q6NXT6	p.Gly25Ser	rs1296116106	missense variant	-	NC_000004.12:g.16226385C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Arg26Cys	rs1248754943	missense variant	-	NC_000004.12:g.16226382G>A	TOPMed
TAPT1	Q6NXT6	p.Gly27Ala	rs906057894	missense variant	-	NC_000004.12:g.16226378C>G	TOPMed
TAPT1	Q6NXT6	p.Ala29Thr	rs1433688479	missense variant	-	NC_000004.12:g.16226373C>T	gnomAD
TAPT1	Q6NXT6	p.Ala29Gly	rs1365348243	missense variant	-	NC_000004.12:g.16226372G>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ala29Val	rs1365348243	missense variant	-	NC_000004.12:g.16226372G>A	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Glu30Lys	rs1322095852	missense variant	-	NC_000004.12:g.16226370C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gly33Arg	rs1188396841	missense variant	-	NC_000004.12:g.16226361C>G	TOPMed
TAPT1	Q6NXT6	p.Gly34Val	rs1276421427	missense variant	-	NC_000004.12:g.16226357C>A	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gly34Ser	rs1045913560	missense variant	-	NC_000004.12:g.16226358C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gly34Asp	rs1276421427	missense variant	-	NC_000004.12:g.16226357C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ser35Cys	rs1455007644	missense variant	-	NC_000004.12:g.16226355T>A	TOPMed
TAPT1	Q6NXT6	p.Gly36Cys	rs1401162402	missense variant	-	NC_000004.12:g.16226352C>A	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gly39Arg	rs918344966	missense variant	-	NC_000004.12:g.16226343C>G	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Pro40Ala	rs941024143	missense variant	-	NC_000004.12:g.16226340G>C	TOPMed
TAPT1	Q6NXT6	p.Pro40Ser	rs941024143	missense variant	-	NC_000004.12:g.16226340G>A	TOPMed
TAPT1	Q6NXT6	p.Pro44Leu	rs1260296379	missense variant	-	NC_000004.12:g.16226327G>A	TOPMed
TAPT1	Q6NXT6	p.Gln45Arg	rs1410509737	missense variant	-	NC_000004.12:g.16226324T>C	gnomAD
TAPT1	Q6NXT6	p.Leu46Arg	rs28384238	missense variant	-	NC_000004.12:g.16226321A>C	1000Genomes,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Thr49Arg	rs1211278442	missense variant	-	NC_000004.12:g.16226312G>C	TOPMed
TAPT1	Q6NXT6	p.Leu50Arg	rs1259394520	missense variant	-	NC_000004.12:g.16226309A>C	TOPMed
TAPT1	Q6NXT6	p.Glu54Ter	rs1474168754	stop gained	-	NC_000004.12:g.16226298C>A	TOPMed
TAPT1	Q6NXT6	p.Glu54Gln	rs1474168754	missense variant	-	NC_000004.12:g.16226298C>G	TOPMed
TAPT1	Q6NXT6	p.Ser55Arg	rs766333220	missense variant	-	NC_000004.12:g.16226293G>C	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ser55Arg	rs766333220	missense variant	-	NC_000004.12:g.16226293G>T	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asp56Tyr	rs1414419245	missense variant	-	NC_000004.12:g.16226292C>A	gnomAD
TAPT1	Q6NXT6	p.Arg57Gln	rs1248746825	missense variant	-	NC_000004.12:g.16226288C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Arg57Leu	rs1248746825	missense variant	-	NC_000004.12:g.16226288C>A	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Glu60Lys	rs760816916	missense variant	-	NC_000004.12:g.16226280C>T	ExAC
TAPT1	Q6NXT6	p.Arg62Cys	rs1174643285	missense variant	-	NC_000004.12:g.16226274G>A	gnomAD
TAPT1	Q6NXT6	p.Arg65His	rs1410757222	missense variant	-	NC_000004.12:g.16226264C>T	gnomAD
TAPT1	Q6NXT6	p.Glu67Asp	rs374769392	missense variant	-	NC_000004.12:g.16213897C>G	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Glu67Lys	rs1344187452	missense variant	-	NC_000004.12:g.16226259C>T	TOPMed
TAPT1	Q6NXT6	p.Leu71Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16213886A>G	NCI-TCGA
TAPT1	Q6NXT6	p.Ser75Ile	rs779100798	missense variant	-	NC_000004.12:g.16213874C>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ser75Gly	rs1397539962	missense variant	-	NC_000004.12:g.16213875T>C	gnomAD
TAPT1	Q6NXT6	p.Ala76Thr	rs1368505552	missense variant	-	NC_000004.12:g.16213872C>T	gnomAD
TAPT1	Q6NXT6	p.Leu78Val	rs996274814	missense variant	-	NC_000004.12:g.16213866G>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gly81Glu	rs900553486	missense variant	-	NC_000004.12:g.16213856C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gly81Val	rs900553486	missense variant	-	NC_000004.12:g.16213856C>A	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Tyr82Cys	rs755405035	missense variant	-	NC_000004.12:g.16213853T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Glu85Lys	rs749694807	missense variant	-	NC_000004.12:g.16213845C>T	ExAC
TAPT1	Q6NXT6	p.His86Arg	rs780629454	missense variant	-	NC_000004.12:g.16213841T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Asn87His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16213839T>G	NCI-TCGA
TAPT1	Q6NXT6	p.Asn87Asp	rs1286405219	missense variant	-	NC_000004.12:g.16213839T>C	gnomAD
TAPT1	Q6NXT6	p.Glu88Lys	rs1429259248	missense variant	-	NC_000004.12:g.16213836C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Lys90Arg	rs756174108	missense variant	-	NC_000004.12:g.16213829T>C	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Glu93Lys	rs767696888	missense variant	-	NC_000004.12:g.16213821C>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.Glu93CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.16213795_16213822ACAAGTGTATACTCTTTCTCTTCTTTCT>-	NCI-TCGA
TAPT1	Q6NXT6	p.Val98Ile	rs1161914663	missense variant	-	NC_000004.12:g.16213806C>T	TOPMed
TAPT1	Q6NXT6	p.Thr100Ser	rs757526769	missense variant	-	NC_000004.12:g.16213799G>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Arg103Ter	rs1415349182	stop gained	-	NC_000004.12:g.16213791G>A	gnomAD
TAPT1	Q6NXT6	p.Arg103Gln	rs372007118	missense variant	-	NC_000004.12:g.16213790C>T	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Glu107Lys	rs541894051	missense variant	-	NC_000004.12:g.16213779C>T	TOPMed
TAPT1	Q6NXT6	p.Ile116Leu	rs187246858	missense variant	-	NC_000004.12:g.16202565T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Phe117Val	COSM1052805	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16202562A>C	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Cys119Arg	rs1369107846	missense variant	-	NC_000004.12:g.16202556A>G	TOPMed
TAPT1	Q6NXT6	p.Leu120Arg	rs1010481444	missense variant	-	NC_000004.12:g.16202552A>C	TOPMed
TAPT1	Q6NXT6	p.Ala122Val	rs758122967	missense variant	-	NC_000004.12:g.16202546G>A	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ala122Thr	rs1310756420	missense variant	-	NC_000004.12:g.16202547C>T	gnomAD
TAPT1	Q6NXT6	p.Phe123Cys	rs1256018478	missense variant	-	NC_000004.12:g.16202543A>C	TOPMed
TAPT1	Q6NXT6	p.Leu124CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.16202540A>-	NCI-TCGA
TAPT1	Q6NXT6	p.Val126Gly	rs1277468438	missense variant	-	NC_000004.12:g.16202534A>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Val126Met	rs1369257099	missense variant	-	NC_000004.12:g.16202535C>T	gnomAD
TAPT1	Q6NXT6	p.Thr128Ser	rs1408682230	missense variant	-	NC_000004.12:g.16202528G>C	gnomAD
TAPT1	Q6NXT6	p.Arg133Lys	rs905198954	missense variant	-	NC_000004.12:g.16202513C>T	TOPMed
TAPT1	Q6NXT6	p.Phe135Ser	rs183054243	missense variant	-	NC_000004.12:g.16202507A>G	1000Genomes,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ala137Ser	rs1416012632	missense variant	-	NC_000004.12:g.16202502C>A	gnomAD
TAPT1	Q6NXT6	p.Leu138Pro	rs1180293674	missense variant	-	NC_000004.12:g.16202498A>G	gnomAD
TAPT1	Q6NXT6	p.Arg140Trp	rs575693373	missense variant	-	NC_000004.12:g.16202493T>A	1000Genomes,ExAC,gnomAD
TAPT1	Q6NXT6	p.Leu141Pro	rs1184914211	missense variant	-	NC_000004.12:g.16202489A>G	gnomAD
TAPT1	Q6NXT6	p.Leu142Phe	rs370237480	missense variant	-	NC_000004.12:g.16202487G>A	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Thr143Ser	rs1348191899	missense variant	-	NC_000004.12:g.16202483G>C	TOPMed
TAPT1	Q6NXT6	p.Thr143Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16202484T>C	NCI-TCGA
TAPT1	Q6NXT6	p.Pro145Thr	rs202111552	missense variant	-	NC_000004.12:g.16202478G>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.Pro145Leu	rs377747758	missense variant	-	NC_000004.12:g.16202477G>A	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Cys146Ser	rs779096019	missense variant	-	NC_000004.12:g.16202474C>G	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Cys146Tyr	rs779096019	missense variant	-	NC_000004.12:g.16202474C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gly148Ala	rs1181905607	missense variant	-	NC_000004.12:g.16202468C>G	gnomAD
TAPT1	Q6NXT6	p.Leu149Ser	rs1385427499	missense variant	-	NC_000004.12:g.16202465A>G	TOPMed
TAPT1	Q6NXT6	p.Arg153Cys	rs1426680333	missense variant	-	NC_000004.12:g.16191516G>A	gnomAD
TAPT1	Q6NXT6	p.Leu155Pro	rs1204849540	missense variant	-	NC_000004.12:g.16191509A>G	TOPMed
TAPT1	Q6NXT6	p.Val160Met	rs1369235854	missense variant	-	NC_000004.12:g.16191495C>T	gnomAD
TAPT1	Q6NXT6	p.Asp162Glu	rs1168592093	missense variant	-	NC_000004.12:g.16191487G>C	gnomAD
TAPT1	Q6NXT6	p.Gly166Cys	rs75638932	missense variant	-	NC_000004.12:g.16191477C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Val167Ala	rs1392436533	missense variant	-	NC_000004.12:g.16191473A>G	gnomAD
TAPT1	Q6NXT6	p.Leu169Phe	rs1196255522	missense variant	-	NC_000004.12:g.16191466C>A	gnomAD
TAPT1	Q6NXT6	p.Val170Leu	rs778997117	missense variant	-	NC_000004.12:g.16191465C>A	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile171Val	rs1192416407	missense variant	-	NC_000004.12:g.16191462T>C	gnomAD
TAPT1	Q6NXT6	p.Tyr173Cys	rs749993401	missense variant	-	NC_000004.12:g.16191455T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Met175Val	rs1205798642	missense variant	-	NC_000004.12:g.16191450T>C	gnomAD
TAPT1	Q6NXT6	p.Met176Ile	rs755038455	missense variant	-	NC_000004.12:g.16191445C>A	gnomAD
TAPT1	Q6NXT6	p.His177Gln	rs371262145	missense variant	-	NC_000004.12:g.16191442G>C	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.His177Arg	rs767058422	missense variant	-	NC_000004.12:g.16191443T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Tyr178Cys	rs376659280	missense variant	-	NC_000004.12:g.16191440T>C	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Val179Ile	rs759948456	missense variant	-	NC_000004.12:g.16191438C>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.Asp180Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16191435C>T	NCI-TCGA
TAPT1	Q6NXT6	p.Tyr181Asn	rs568245730	missense variant	-	NC_000004.12:g.16191432A>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Tyr181Cys	rs777114921	missense variant	-	NC_000004.12:g.16191431T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Tyr185Asn	rs370646247	missense variant	-	NC_000004.12:g.16191420A>T	ESP,TOPMed
TAPT1	Q6NXT6	p.His186Tyr	rs771467593	missense variant	-	NC_000004.12:g.16191417G>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Gly190Glu	rs1171159044	missense variant	-	NC_000004.12:g.16191404C>T	gnomAD
TAPT1	Q6NXT6	p.Gln191Glu	rs1428760851	missense variant	-	NC_000004.12:g.16191402G>C	TOPMed
TAPT1	Q6NXT6	p.Ser192Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16191399A>G	NCI-TCGA
TAPT1	Q6NXT6	p.Val193Phe	rs777859476	missense variant	-	NC_000004.12:g.16191396C>A	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Val193Ile	rs777859476	missense variant	-	NC_000004.12:g.16191396C>T	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile194Val	rs772074822	missense variant	-	NC_000004.12:g.16191393T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Met202Val	rs1441690125	missense variant	-	NC_000004.12:g.16191369T>C	TOPMed
TAPT1	Q6NXT6	p.Asp207Asn	rs1229075149	missense variant	-	NC_000004.12:g.16188349C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Arg208Leu	rs1282881473	missense variant	-	NC_000004.12:g.16188345C>A	gnomAD
TAPT1	Q6NXT6	p.Arg208Cys	rs750353463	missense variant	-	NC_000004.12:g.16188346G>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Arg208His	COSM4554527	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16188345C>T	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Ser211Leu	rs1341404010	missense variant	-	NC_000004.12:g.16188336G>A	gnomAD
TAPT1	Q6NXT6	p.Gly214Glu	rs1433413741	missense variant	-	NC_000004.12:g.16188327C>T	gnomAD
TAPT1	Q6NXT6	p.Ile217Thr	rs1401876750	missense variant	-	NC_000004.12:g.16188318A>G	gnomAD
TAPT1	Q6NXT6	p.Ile217Val	rs761241174	missense variant	-	NC_000004.12:g.16188319T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ala220Asp	COSM1052804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16188309G>T	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Tyr222Cys	rs763799449	missense variant	-	NC_000004.12:g.16188303T>C	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Trp223Ter	rs777029268	stop gained	-	NC_000004.12:g.16188300C>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.Thr224Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16188297G>A	NCI-TCGA
TAPT1	Q6NXT6	p.Ala225Gly	rs1186425611	missense variant	-	NC_000004.12:g.16188294G>C	gnomAD
TAPT1	Q6NXT6	p.Thr226Ala	rs761203835	missense variant	-	NC_000004.12:g.16188292T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Glu227Asp	rs1448760482	missense variant	-	NC_000004.12:g.16188287C>A	gnomAD
TAPT1	Q6NXT6	p.Lys232Gln	rs774712114	missense variant	-	NC_000004.12:g.16188274T>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Arg233Ser	rs769040312	missense variant	-	NC_000004.12:g.16188269T>A	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ala234Thr	rs1276265479	missense variant	-	NC_000004.12:g.16188268C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.His235Pro	rs749073152	missense variant	-	NC_000004.12:g.16188264T>G	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile236Ser	rs200624831	missense variant	-	NC_000004.12:g.16188261A>C	1000Genomes,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile236Thr	rs200624831	missense variant	-	NC_000004.12:g.16188261A>G	1000Genomes,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile236Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16188262T>G	NCI-TCGA
TAPT1	Q6NXT6	p.Val238Met	rs895433054	missense variant	-	NC_000004.12:g.16188256C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Phe242Cys	rs1322278542	missense variant	-	NC_000004.12:g.16188243A>C	gnomAD
TAPT1	Q6NXT6	p.Met244Leu	rs781046151	missense variant	-	NC_000004.12:g.16188238T>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Val246Ile	rs531208238	missense variant	-	NC_000004.12:g.16188232C>T	1000Genomes,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Val246Gly	rs78659308	missense variant	-	NC_000004.12:g.16188231A>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Leu247Val	rs1241492513	missense variant	-	NC_000004.12:g.16188229G>C	TOPMed
TAPT1	Q6NXT6	p.Leu247Phe	COSM3917360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16188229G>A	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Tyr248Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.16188224A>C	NCI-TCGA
TAPT1	Q6NXT6	p.His252Tyr	COSM271552	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16186873G>A	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Ala253Val	rs1482999645	missense variant	-	NC_000004.12:g.16186869G>A	gnomAD
TAPT1	Q6NXT6	p.Ala253Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16186870C>T	NCI-TCGA
TAPT1	Q6NXT6	p.Ile254Asn	rs1207054473	missense variant	-	NC_000004.12:g.16186866A>T	gnomAD
TAPT1	Q6NXT6	p.Ile254Val	rs756498331	missense variant	-	NC_000004.12:g.16186867T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Leu255Phe	rs370968275	missense variant	-	NC_000004.12:g.16186864G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile256Lys	rs768047657	missense variant	-	NC_000004.12:g.16186860A>T	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile256Thr	rs768047657	missense variant	-	NC_000004.12:g.16186860A>G	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile256Arg	rs768047657	missense variant	-	NC_000004.12:g.16186860A>C	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Met257Ile	rs368839711	missense variant	-	NC_000004.12:g.16186856C>T	ESP,ExAC,gnomAD
TAPT1	Q6NXT6	p.Met257Arg	rs1325017708	missense variant	-	NC_000004.12:g.16186857A>C	gnomAD
TAPT1	Q6NXT6	p.Met257Thr	rs1325017708	missense variant	-	NC_000004.12:g.16186857A>G	gnomAD
TAPT1	Q6NXT6	p.Gln259Arg	rs1339235821	missense variant	-	NC_000004.12:g.16186851T>C	TOPMed
TAPT1	Q6NXT6	p.Thr261Ala	rs752147500	missense variant	-	NC_000004.12:g.16186846T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Asn264Ser	rs1299884884	missense variant	-	NC_000004.12:g.16186836T>C	gnomAD
TAPT1	Q6NXT6	p.Ala266Gly	rs535433678	missense variant	-	NC_000004.12:g.16186830G>C	1000Genomes,ExAC,gnomAD
TAPT1	Q6NXT6	p.His270Tyr	rs893390254	missense variant	-	NC_000004.12:g.16186819G>A	TOPMed
TAPT1	Q6NXT6	p.His270Gln	rs1319494954	missense variant	-	NC_000004.12:g.16186817G>T	TOPMed
TAPT1	Q6NXT6	p.Asn271Ser	rs775774627	missense variant	-	NC_000004.12:g.16186815T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Lys272Arg	rs769946504	missense variant	-	NC_000004.12:g.16186812T>C	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Thr276Ala	rs759350471	missense variant	-	NC_000004.12:g.16186801T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ile277Thr	rs1226133587	missense variant	-	NC_000004.12:g.16186797A>G	gnomAD
TAPT1	Q6NXT6	p.Met278Ile	COSM6166664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16186793C>T	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Met279Thr	rs770743888	missense variant	-	NC_000004.12:g.16186791A>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Lys287Glu	rs200499081	missense variant	-	NC_000004.12:g.16186592T>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gly288Ala	rs985388924	missense variant	-	NC_000004.12:g.16186588C>G	TOPMed
TAPT1	Q6NXT6	p.Lys293Arg	rs1485881632	missense variant	-	NC_000004.12:g.16186573T>C	gnomAD
TAPT1	Q6NXT6	p.Asn298Ser	rs200147947	missense variant	-	NC_000004.12:g.16186558T>C	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Phe300Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16186553A>C	NCI-TCGA
TAPT1	Q6NXT6	p.Asp306Val	rs1385086448	missense variant	-	NC_000004.12:g.16179657T>A	gnomAD
TAPT1	Q6NXT6	p.Asp306Asn	rs756821981	missense variant	-	NC_000004.12:g.16186535C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asp306His	rs756821981	missense variant	-	NC_000004.12:g.16186535C>G	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile307Phe	rs1344982138	missense variant	-	NC_000004.12:g.16179655T>A	gnomAD
TAPT1	Q6NXT6	p.Arg310Gln	rs1369292980	missense variant	-	NC_000004.12:g.16179645C>T	gnomAD
TAPT1	Q6NXT6	p.Phe311Tyr	rs1187375742	missense variant	-	NC_000004.12:g.16179642A>T	TOPMed
TAPT1	Q6NXT6	p.Thr312Ile	rs1167681390	missense variant	-	NC_000004.12:g.16179639G>A	gnomAD
TAPT1	Q6NXT6	p.Asn313Lys	rs1462872182	missense variant	-	NC_000004.12:g.16179635A>T	gnomAD
TAPT1	Q6NXT6	p.Leu316Arg	rs1173530398	missense variant	-	NC_000004.12:g.16179627A>C	gnomAD
TAPT1	Q6NXT6	p.Leu316Phe	COSM1052802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16179628G>A	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Ile319Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16179617T>C	NCI-TCGA
TAPT1	Q6NXT6	p.Cys321Ser	rs1269011618	missense variant	-	NC_000004.12:g.16179613A>T	gnomAD
TAPT1	Q6NXT6	p.Gln327Arg	rs1482019323	missense variant	-	NC_000004.12:g.16179594T>C	gnomAD
TAPT1	Q6NXT6	p.Pro332Ser	rs1379890300	missense variant	-	NC_000004.12:g.16179580G>A	TOPMed
TAPT1	Q6NXT6	p.Asp333Glu	rs767322893	missense variant	-	NC_000004.12:g.16176227A>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.His334Arg	rs1261745089	missense variant	-	NC_000004.12:g.16176225T>C	TOPMed
TAPT1	Q6NXT6	p.Phe339Cys	rs1163575186	missense variant	-	NC_000004.12:g.16176210A>C	gnomAD
TAPT1	Q6NXT6	p.Cys343Ser	rs1327175053	missense variant	-	NC_000004.12:g.16176198C>G	gnomAD
TAPT1	Q6NXT6	p.Met344Thr	rs1240423595	missense variant	-	NC_000004.12:g.16176195A>G	gnomAD
TAPT1	Q6NXT6	p.Met344Val	rs1279433074	missense variant	-	NC_000004.12:g.16176196T>C	gnomAD
TAPT1	Q6NXT6	p.Met344Ile	rs1338086129	missense variant	-	NC_000004.12:g.16176194C>A	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Val345Ile	rs1310997111	missense variant	-	NC_000004.12:g.16176193C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile346Thr	rs761619456	missense variant	-	NC_000004.12:g.16176189A>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ala347Pro	rs991064906	missense variant	-	NC_000004.12:g.16176187C>G	TOPMed
TAPT1	Q6NXT6	p.Glu349Gln	COSM3825480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16176181C>G	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Ala351Thr	rs990621989	missense variant	-	NC_000004.12:g.16176175C>T	TOPMed
TAPT1	Q6NXT6	p.Val352Ala	rs767995210	missense variant	-	NC_000004.12:g.16176171A>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Val352Met	rs1455132724	missense variant	-	NC_000004.12:g.16176172C>T	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asp353Asn	rs1387227130	missense variant	-	NC_000004.12:g.16176169C>T	TOPMed
TAPT1	Q6NXT6	p.Asp353Val	rs869312980	missense variant	-	NC_000004.12:g.16176168T>A	-
TAPT1	Q6NXT6	p.Asp353Val	rs869312980	missense variant	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG)	NC_000004.12:g.16176168T>A	UniProt,dbSNP
TAPT1	Q6NXT6	p.Asp353Val	VAR_076497	missense variant	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG)	NC_000004.12:g.16176168T>A	UniProt
TAPT1	Q6NXT6	p.Asp353Val	RCV000210534	missense variant	Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type (OCLSBG)	NC_000004.12:g.16176168T>A	ClinVar
TAPT1	Q6NXT6	p.Ile354Val	rs775249703	missense variant	-	NC_000004.12:g.16176166T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.His357Tyr	rs937400048	missense variant	-	NC_000004.12:g.16176157G>A	TOPMed
TAPT1	Q6NXT6	p.Asn364Ser	rs1182741102	missense variant	-	NC_000004.12:g.16176135T>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asn364Thr	rs1182741102	missense variant	-	NC_000004.12:g.16176135T>G	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asp365Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16176133C>A	NCI-TCGA
TAPT1	Q6NXT6	p.Thr367Ala	rs1445089900	missense variant	-	NC_000004.12:g.16176127T>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asp369Glu	rs745533823	missense variant	-	NC_000004.12:g.16176119A>T	ExAC
TAPT1	Q6NXT6	p.Val370Ile	rs1222430245	missense variant	-	NC_000004.12:g.16174729C>T	gnomAD
TAPT1	Q6NXT6	p.Glu373Asp	rs766568331	missense variant	-	NC_000004.12:g.16174718T>G	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Arg375Lys	rs756280549	missense variant	-	NC_000004.12:g.16174713C>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.Arg375Ile	rs756280549	missense variant	-	NC_000004.12:g.16174713C>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ala376Asp	rs1226712701	missense variant	-	NC_000004.12:g.16174710G>T	gnomAD
TAPT1	Q6NXT6	p.Ser377Thr	rs767236884	missense variant	-	NC_000004.12:g.16174707C>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ala379Gly	rs1016454514	missense variant	-	NC_000004.12:g.16174701G>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ala379Ser	rs1432211055	missense variant	-	NC_000004.12:g.16174702C>A	gnomAD
TAPT1	Q6NXT6	p.Phe380Leu	rs1302422081	missense variant	-	NC_000004.12:g.16174697A>T	gnomAD
TAPT1	Q6NXT6	p.Asp381Glu	rs761686384	missense variant	-	NC_000004.12:g.16174694G>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Leu382Arg	rs1367422449	missense variant	-	NC_000004.12:g.16174692A>C	gnomAD
TAPT1	Q6NXT6	p.Arg386Gln	rs1168727929	missense variant	-	NC_000004.12:g.16174680C>T	gnomAD
TAPT1	Q6NXT6	p.Gln387His	rs762345005	missense variant	-	NC_000004.12:g.16174676C>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Asn389Ser	rs1266903876	missense variant	-	NC_000004.12:g.16174671T>C	gnomAD
TAPT1	Q6NXT6	p.Thr392Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16174265G>A	NCI-TCGA
TAPT1	Q6NXT6	p.Ser397Thr	rs1404094078	missense variant	-	NC_000004.12:g.16174251A>T	gnomAD
TAPT1	Q6NXT6	p.Val398Ile	rs1336396708	missense variant	-	NC_000004.12:g.16174248C>T	gnomAD
TAPT1	Q6NXT6	p.Ala399Thr	rs770656839	missense variant	-	NC_000004.12:g.16174245C>T	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ala399Ser	rs770656839	missense variant	-	NC_000004.12:g.16174245C>A	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Arg400Trp	rs374024583	missense variant	-	NC_000004.12:g.16174242G>A	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Arg401Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16174238C>A	NCI-TCGA
TAPT1	Q6NXT6	p.Phe404Leu	rs1157513595	missense variant	-	NC_000004.12:g.16174230A>G	gnomAD
TAPT1	Q6NXT6	p.Leu407Phe	rs1400588920	missense variant	-	NC_000004.12:g.16174221G>A	gnomAD
TAPT1	Q6NXT6	p.Leu409Pro	rs774729517	missense variant	-	NC_000004.12:g.16174214A>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Val411Ile	rs1242133110	missense variant	-	NC_000004.12:g.16174209C>T	gnomAD
TAPT1	Q6NXT6	p.Ile414Thr	rs751757066	missense variant	-	NC_000004.12:g.16170725A>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ile414Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16170724G>C	NCI-TCGA
TAPT1	Q6NXT6	p.Arg415Lys	rs1185362521	missense variant	-	NC_000004.12:g.16170722C>T	gnomAD
TAPT1	Q6NXT6	p.Val417Leu	rs777554972	missense variant	-	NC_000004.12:g.16170717C>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Thr418Ser	rs758279791	missense variant	-	NC_000004.12:g.16170714T>A	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ser419Ile	rs1358419544	missense variant	-	NC_000004.12:g.16170710C>A	gnomAD
TAPT1	Q6NXT6	p.Ile421Val	rs752666747	missense variant	-	NC_000004.12:g.16170705T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ile421Thr	rs370585771	missense variant	-	NC_000004.12:g.16170704A>G	ESP,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile421Met	rs1323664698	missense variant	-	NC_000004.12:g.16170703A>C	gnomAD
TAPT1	Q6NXT6	p.Lys422Glu	rs1293790897	missense variant	-	NC_000004.12:g.16170702T>C	gnomAD
TAPT1	Q6NXT6	p.Gln424Arg	rs1362812845	missense variant	-	NC_000004.12:g.16170695T>C	gnomAD
TAPT1	Q6NXT6	p.Tyr429Cys	rs1300553738	missense variant	-	NC_000004.12:g.16170680T>C	gnomAD
TAPT1	Q6NXT6	p.Ala430Gly	rs1365532788	missense variant	-	NC_000004.12:g.16170677G>C	gnomAD
TAPT1	Q6NXT6	p.Ile433Val	rs759085460	missense variant	-	NC_000004.12:g.16170669T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Tyr436Cys	COSM5812631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16170659T>C	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Phe437Ser	rs1370979711	missense variant	-	NC_000004.12:g.16170656A>G	gnomAD
TAPT1	Q6NXT6	p.Phe437Leu	rs190919307	missense variant	-	NC_000004.12:g.16170655A>C	1000Genomes
TAPT1	Q6NXT6	p.Leu439Ser	rs1301240125	missense variant	-	NC_000004.12:g.16166791A>G	gnomAD
TAPT1	Q6NXT6	p.Ile440Thr	rs775884805	missense variant	-	NC_000004.12:g.16166788A>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ser441Cys	rs935776529	missense variant	-	NC_000004.12:g.16166785G>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ser441Phe	COSM5905597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16166785G>A	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Leu445Phe	rs774074379	missense variant	-	NC_000004.12:g.16166774G>A	ExAC,TOPMed
TAPT1	Q6NXT6	p.Leu445Ile	rs774074379	missense variant	-	NC_000004.12:g.16166774G>T	ExAC,TOPMed
TAPT1	Q6NXT6	p.Leu445Arg	COSM1052801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16166773A>C	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Ser447Asn	rs1275841479	missense variant	-	NC_000004.12:g.16166767C>T	TOPMed
TAPT1	Q6NXT6	p.Ser447Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16166768T>A	NCI-TCGA
TAPT1	Q6NXT6	p.Ile448Val	rs1334539487	missense variant	-	NC_000004.12:g.16166765T>C	gnomAD
TAPT1	Q6NXT6	p.Val449Met	rs1010156933	missense variant	-	NC_000004.12:g.16166762C>T	gnomAD
TAPT1	Q6NXT6	p.Ser454Leu	COSM1052800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16166746G>A	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Gln456Arg	rs1480843874	missense variant	-	NC_000004.12:g.16166740T>C	TOPMed
TAPT1	Q6NXT6	p.Tyr457Cys	rs773452270	missense variant	-	NC_000004.12:g.16166737T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Val458Met	rs772471035	missense variant	-	NC_000004.12:g.16166735C>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ala461Thr	rs1182175969	missense variant	-	NC_000004.12:g.16166726C>T	gnomAD
TAPT1	Q6NXT6	p.Lys462Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16166721T>A	NCI-TCGA
TAPT1	Q6NXT6	p.Glu465Lys	rs35606284	missense variant	-	NC_000004.12:g.16166714C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Glu465Lys	rs35606284	missense variant	-	NC_000004.12:g.16166714C>T	UniProt,dbSNP
TAPT1	Q6NXT6	p.Glu465Lys	VAR_042568	missense variant	-	NC_000004.12:g.16166714C>T	UniProt
TAPT1	Q6NXT6	p.Leu467Arg	rs1433919519	missense variant	-	NC_000004.12:g.16166707A>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Leu467Val	rs540552859	missense variant	-	NC_000004.12:g.16166708G>C	1000Genomes
TAPT1	Q6NXT6	p.Ser468Leu	rs749192598	missense variant	-	NC_000004.12:g.16166704G>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ser468Trp	rs749192598	missense variant	-	NC_000004.12:g.16166704G>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Pro470Arg	rs1202265438	missense variant	-	NC_000004.12:g.16166698G>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Pro470Ala	rs1263787327	missense variant	-	NC_000004.12:g.16166699G>C	gnomAD
TAPT1	Q6NXT6	p.Pro470His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16166698G>T	NCI-TCGA
TAPT1	Q6NXT6	p.Pro471Ala	rs1349085629	missense variant	-	NC_000004.12:g.16166696G>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Pro471Ser	rs1349085629	missense variant	-	NC_000004.12:g.16166696G>A	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Pro471Arg	rs1302799056	missense variant	-	NC_000004.12:g.16166695G>C	TOPMed
TAPT1	Q6NXT6	p.Ala472Thr	rs376072922	missense variant	-	NC_000004.12:g.16166693C>T	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Thr473Asn	rs1312425895	missense variant	-	NC_000004.12:g.16166689G>T	gnomAD
TAPT1	Q6NXT6	p.Thr475Pro	rs1297851595	missense variant	-	NC_000004.12:g.16166684T>G	TOPMed
TAPT1	Q6NXT6	p.Pro479Leu	rs1335552338	missense variant	-	NC_000004.12:g.16166671G>A	gnomAD
TAPT1	Q6NXT6	p.Ser480Cys	rs765524755	missense variant	-	NC_000004.12:g.16166668G>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ser480Phe	rs765524755	missense variant	-	NC_000004.12:g.16166668G>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Asn485Asp	rs759872460	missense variant	-	NC_000004.12:g.16166654T>C	ExAC
TAPT1	Q6NXT6	p.Asn485Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16166653T>C	NCI-TCGA
TAPT1	Q6NXT6	p.Pro489Thr	rs777190099	missense variant	-	NC_000004.12:g.16166642G>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.Pro489His	rs766833715	missense variant	-	NC_000004.12:g.16166641G>T	ExAC,gnomAD
TAPT1	Q6NXT6	p.Pro489Leu	rs766833715	missense variant	-	NC_000004.12:g.16166641G>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ser490Ala	rs369049796	missense variant	-	NC_000004.12:g.16166639A>C	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gln491Arg	rs1238279010	missense variant	-	NC_000004.12:g.16166635T>C	gnomAD
TAPT1	Q6NXT6	p.Gly492Ser	rs138378020	missense variant	-	NC_000004.12:g.16166633C>T	1000Genomes,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Gly492Arg	rs138378020	missense variant	-	NC_000004.12:g.16166633C>G	1000Genomes,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Leu493Val	rs1270219564	missense variant	-	NC_000004.12:g.16163535G>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Leu493Phe	rs1270219564	missense variant	-	NC_000004.12:g.16163535G>A	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Thr495Arg	rs929230368	missense variant	-	NC_000004.12:g.16163528G>C	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Thr495Ala	rs1350225487	missense variant	-	NC_000004.12:g.16163529T>C	TOPMed
TAPT1	Q6NXT6	p.Thr495Ile	rs929230368	missense variant	-	NC_000004.12:g.16163528G>A	TOPMed,gnomAD
TAPT1	Q6NXT6	p.Glu496Gln	rs1282632507	missense variant	-	NC_000004.12:g.16163526C>G	gnomAD
TAPT1	Q6NXT6	p.Glu497Lys	rs1438602541	missense variant	-	NC_000004.12:g.16163523C>T	TOPMed
TAPT1	Q6NXT6	p.Asn498Ser	rs754203436	missense variant	-	NC_000004.12:g.16163519T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Leu499Met	rs1326644966	missense variant	-	NC_000004.12:g.16163517G>T	gnomAD
TAPT1	Q6NXT6	p.Ser500Phe	rs200723168	missense variant	-	NC_000004.12:g.16163513G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ser500Thr	rs1408379866	missense variant	-	NC_000004.12:g.16163514A>T	gnomAD
TAPT1	Q6NXT6	p.Ser502Pro	rs767648516	missense variant	-	NC_000004.12:g.16163508A>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ser502Phe	rs1427798682	missense variant	-	NC_000004.12:g.16163507G>A	gnomAD
TAPT1	Q6NXT6	p.Ile503Val	rs762043208	missense variant	-	NC_000004.12:g.16163505T>C	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile503Leu	rs762043208	missense variant	-	NC_000004.12:g.16163505T>G	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Ile503Asn	COSM4911788	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16163504A>T	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Thr504Ser	rs774714118	missense variant	-	NC_000004.12:g.16163502T>A	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Thr504Ser	rs768802773	missense variant	-	NC_000004.12:g.16163501G>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Gln506Ter	COSM4123215	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.16163496G>A	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.His509Arg	rs1274252929	missense variant	-	NC_000004.12:g.16163486T>C	TOPMed
TAPT1	Q6NXT6	p.Gln510Arg	rs1258305087	missense variant	-	NC_000004.12:g.16163483T>C	gnomAD
TAPT1	Q6NXT6	p.Ile515Val	rs376420202	missense variant	-	NC_000004.12:g.16163469T>C	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ile515Met	COSM4123214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16163467T>C	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Pro516Ser	rs1320865474	missense variant	-	NC_000004.12:g.16163466G>A	gnomAD
TAPT1	Q6NXT6	p.Val519Met	rs781162028	missense variant	-	NC_000004.12:g.16163457C>T	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Val519Gly	rs1219700041	missense variant	-	NC_000004.12:g.16163456A>C	gnomAD
TAPT1	Q6NXT6	p.Thr520Lys	rs770420838	missense variant	-	NC_000004.12:g.16163453G>T	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asn522Thr	rs16893137	missense variant	-	NC_000004.12:g.16163447T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asn522Ser	rs16893137	missense variant	-	NC_000004.12:g.16163447T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asp524His	rs1441215553	missense variant	-	NC_000004.12:g.16163442C>G	gnomAD
TAPT1	Q6NXT6	p.Asp524Tyr	rs1441215553	missense variant	-	NC_000004.12:g.16163442C>A	gnomAD
TAPT1	Q6NXT6	p.Gln525Arg	COSM3825479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16163438T>C	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Phe526Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16163435A>C	NCI-TCGA
TAPT1	Q6NXT6	p.Leu527Phe	rs777380785	missense variant	-	NC_000004.12:g.16163431C>G	ExAC,gnomAD
TAPT1	Q6NXT6	p.Leu527Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.16163432A>-	NCI-TCGA
TAPT1	Q6NXT6	p.Thr529Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16163426G>A	NCI-TCGA
TAPT1	Q6NXT6	p.Pro530Ala	rs1332366063	missense variant	-	NC_000004.12:g.16163424G>C	gnomAD
TAPT1	Q6NXT6	p.Asp531Glu	rs759054678	missense variant	-	NC_000004.12:g.16163419A>C	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asp531Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16163421C>T	NCI-TCGA
TAPT1	Q6NXT6	p.Gly532Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16163417C>A	NCI-TCGA
TAPT1	Q6NXT6	p.Gly532Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16163418C>T	NCI-TCGA
TAPT1	Q6NXT6	p.Asp533Glu	rs34007466	missense variant	-	NC_000004.12:g.16163413G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Glu534Lys	rs780216458	missense variant	-	NC_000004.12:g.16163412C>T	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asp536Gly	rs1427878367	missense variant	-	NC_000004.12:g.16163405T>C	gnomAD
TAPT1	Q6NXT6	p.Asp536Asn	rs541506067	missense variant	-	NC_000004.12:g.16163406C>T	1000Genomes,ExAC,gnomAD
TAPT1	Q6NXT6	p.Ile537Leu	rs750954747	missense variant	-	NC_000004.12:g.16163403T>A	ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Thr538Lys	rs374613998	missense variant	-	NC_000004.12:g.16163399G>T	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Thr538Met	rs374613998	missense variant	-	NC_000004.12:g.16163399G>A	ESP,ExAC,TOPMed,gnomAD
TAPT1	Q6NXT6	p.Asn541Ser	rs572498159	missense variant	-	NC_000004.12:g.16163390T>C	1000Genomes,ExAC,gnomAD
TAPT1	Q6NXT6	p.Ser542Tyr	COSM1052799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16163387G>T	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Ser542Cys	rs1162365688	missense variant	-	NC_000004.12:g.16163387G>C	TOPMed
TAPT1	Q6NXT6	p.Lys545AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.16163377T>-	NCI-TCGA
TAPT1	Q6NXT6	p.His546Gln	rs1400493375	missense variant	-	NC_000004.12:g.16163374G>C	TOPMed
TAPT1	Q6NXT6	p.Arg547Thr	rs1299546491	missense variant	-	NC_000004.12:g.16163372C>G	TOPMed
TAPT1	Q6NXT6	p.Arg547Ser	rs764260680	missense variant	-	NC_000004.12:g.16163371T>A	ExAC,gnomAD
TAPT1	Q6NXT6	p.Ser548Ala	rs1373825780	missense variant	-	NC_000004.12:g.16163370A>C	gnomAD
TAPT1	Q6NXT6	p.Ser549Pro	rs191294901	missense variant	-	NC_000004.12:g.16163367A>G	1000Genomes,TOPMed
TAPT1	Q6NXT6	p.Lys550Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16163362C>A	NCI-TCGA
TAPT1	Q6NXT6	p.Glu555Gln	COSM3775671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.16163349C>G	NCI-TCGA Cosmic
TAPT1	Q6NXT6	p.Arg558Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.16163338C>A	NCI-TCGA
TAPT1	Q6NXT6	p.Asp567Asn	rs1313817124	missense variant	-	NC_000004.12:g.16163313C>T	gnomAD
TAPT1	Q6NXT6	p.Asp567Gly	rs775790806	missense variant	-	NC_000004.12:g.16163312T>C	ExAC,gnomAD
TMEM107	Q6UX40	p.Arg3Gln	rs758042017	missense variant	-	NC_000017.11:g.8176279C>T	ExAC,gnomAD
TMEM107	Q6UX40	p.Arg3Pro	rs758042017	missense variant	-	NC_000017.11:g.8176279C>G	ExAC,gnomAD
TMEM107	Q6UX40	p.Gly6Arg	rs1158816213	missense variant	-	NC_000017.11:g.8176271C>T	TOPMed
TMEM107	Q6UX40	p.Pro9His	rs746705243	missense variant	-	NC_000017.11:g.8176261G>T	TOPMed,gnomAD
TMEM107	Q6UX40	p.Pro9Leu	rs746705243	missense variant	-	NC_000017.11:g.8176261G>A	TOPMed,gnomAD
TMEM107	Q6UX40	p.Pro9Ser	rs779192623	missense variant	-	NC_000017.11:g.8176262G>A	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Pro9Arg	rs746705243	missense variant	-	NC_000017.11:g.8176261G>C	TOPMed,gnomAD
TMEM107	Q6UX40	p.Arg11His	rs764486156	missense variant	-	NC_000017.11:g.8176255C>T	ExAC,gnomAD
TMEM107	Q6UX40	p.Phe12Leu	rs756257026	missense variant	-	NC_000017.11:g.8176251G>T	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Thr14Met	rs1172454509	missense variant	-	NC_000017.11:g.8176246G>A	gnomAD
TMEM107	Q6UX40	p.Ala17Thr	rs752816091	missense variant	-	NC_000017.11:g.8176238C>T	ExAC,gnomAD
TMEM107	Q6UX40	p.Leu25Ter	rs759772085	stop gained	-	NC_000017.11:g.8176213A>T	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Leu25Ser	rs759772085	missense variant	-	NC_000017.11:g.8176213A>G	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Phe26Leu	rs991836698	missense variant	-	NC_000017.11:g.8176209G>C	TOPMed,gnomAD
TMEM107	Q6UX40	p.Phe26Ile	rs1178144948	missense variant	-	NC_000017.11:g.8176211A>T	gnomAD
TMEM107	Q6UX40	p.Trp27Ser	rs765044785	missense variant	-	NC_000017.11:g.8176207C>G	ExAC,gnomAD
TMEM107	Q6UX40	p.Arg29Gly	rs553369646	missense variant	-	NC_000017.11:g.8176202G>C	1000Genomes,ExAC,gnomAD
TMEM107	Q6UX40	p.Arg29Pro	rs776684584	missense variant	-	NC_000017.11:g.8176201C>G	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Asp30Glu	rs752678483	missense variant	-	NC_000017.11:g.8176024G>C	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Asp30Asn	rs1049214287	missense variant	-	NC_000017.11:g.8176026C>T	TOPMed,gnomAD
TMEM107	Q6UX40	p.Gln34His	rs767410741	missense variant	-	NC_000017.11:g.8176012C>G	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Gln34Ter	rs1392368949	stop gained	-	NC_000017.11:g.8176014G>A	gnomAD
TMEM107	Q6UX40	p.Cys36Ter	rs1466090000	stop gained	-	NC_000017.11:g.8176006G>T	gnomAD
TMEM107	Q6UX40	p.Pro38Leu	rs759112528	missense variant	-	NC_000017.11:g.8176001G>A	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Leu39Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.8175999G>C	NCI-TCGA
TMEM107	Q6UX40	p.Thr40Met	rs762443312	missense variant	-	NC_000017.11:g.8175995G>A	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Thr40Ser	rs569789530	missense variant	-	NC_000017.11:g.8175996T>A	1000Genomes,ExAC,gnomAD
TMEM107	Q6UX40	p.Pro43Leu	rs1220984648	missense variant	-	NC_000017.11:g.8175986G>A	TOPMed
TMEM107	Q6UX40	p.Pro43Thr	rs770238344	missense variant	-	NC_000017.11:g.8175987G>T	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Glu44Asp	COSM986190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.8175982C>A	NCI-TCGA Cosmic
TMEM107	Q6UX40	p.Glu45Gly	rs1555526172	missense variant	-	NC_000017.11:g.8175980T>C	-
TMEM107	Q6UX40	p.Glu45Gly	rs1555526172	missense variant	Orofaciodigital syndrome 16 (OFD16)	NC_000017.11:g.8175980T>C	UniProt,dbSNP
TMEM107	Q6UX40	p.Glu45Gly	VAR_079328	missense variant	Orofaciodigital syndrome 16 (OFD16)	NC_000017.11:g.8175980T>C	UniProt
TMEM107	Q6UX40	p.Glu45Lys	rs1261826107	missense variant	-	NC_000017.11:g.8175981C>T	TOPMed
TMEM107	Q6UX40	p.Glu45Gly	RCV000495828	missense variant	OROFACIODIGITAL SYNDROME XVI (OFD16)	NC_000017.11:g.8175980T>C	ClinVar
TMEM107	Q6UX40	p.Tyr46Ter	rs747145199	stop gained	-	NC_000017.11:g.8175976A>C	ExAC,gnomAD
TMEM107	Q6UX40	p.Tyr46Cys	rs1430166494	missense variant	-	NC_000017.11:g.8175977T>C	TOPMed,gnomAD
TMEM107	Q6UX40	p.Lys48Asn	rs1201413781	missense variant	-	NC_000017.11:g.8175970C>G	TOPMed
TMEM107	Q6UX40	p.Lys48Arg	rs779940342	missense variant	-	NC_000017.11:g.8175971T>C	ExAC,gnomAD
TMEM107	Q6UX40	p.Asp50His	rs377543068	missense variant	-	NC_000017.11:g.8175966C>G	ESP
TMEM107	Q6UX40	p.Ile51Thr	rs1314276935	missense variant	-	NC_000017.11:g.8175962A>G	gnomAD
TMEM107	Q6UX40	p.Leu53Pro	rs143165118	missense variant	-	NC_000017.11:g.8175855A>G	ESP,TOPMed
TMEM107	Q6UX40	p.Leu53Met	rs1241028740	missense variant	-	NC_000017.11:g.8175856G>T	gnomAD
TMEM107	Q6UX40	p.Ala55Val	rs892821655	missense variant	-	NC_000017.11:g.8175849G>A	TOPMed
TMEM107	Q6UX40	p.Ala56Gly	rs745927685	missense variant	-	NC_000017.11:g.8175846G>C	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Ala56Ser	COSM708547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.8175847C>A	NCI-TCGA Cosmic
TMEM107	Q6UX40	p.Thr60Ile	rs1397722725	missense variant	-	NC_000017.11:g.8175834G>A	gnomAD
TMEM107	Q6UX40	p.Gly62Val	rs780895688	missense variant	-	NC_000017.11:g.8175828C>A	ExAC,gnomAD
TMEM107	Q6UX40	p.Gly62Ser	rs747945881	missense variant	-	NC_000017.11:g.8175829C>T	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Val66Met	rs1203000720	missense variant	-	NC_000017.11:g.8175817C>T	TOPMed
TMEM107	Q6UX40	p.Leu68Arg	rs1488298029	missense variant	-	NC_000017.11:g.8175810A>C	TOPMed
TMEM107	Q6UX40	p.Leu68Val	rs979857583	missense variant	-	NC_000017.11:g.8175811G>C	TOPMed
TMEM107	Q6UX40	p.Ala69Asp	rs766320339	missense variant	-	NC_000017.11:g.8175807G>T	ExAC,gnomAD
TMEM107	Q6UX40	p.Gly70Cys	rs765045090	missense variant	-	NC_000017.11:g.8175805C>A	ExAC,gnomAD
TMEM107	Q6UX40	p.Gly70Asp	rs761499511	missense variant	-	NC_000017.11:g.8175804C>T	ExAC,gnomAD
TMEM107	Q6UX40	p.Gly70Ser	rs765045090	missense variant	-	NC_000017.11:g.8175805C>T	ExAC,gnomAD
TMEM107	Q6UX40	p.Leu72Phe	rs1416997604	missense variant	-	NC_000017.11:g.8175799G>A	gnomAD
TMEM107	Q6UX40	p.Ser73Leu	rs969768247	missense variant	-	NC_000017.11:g.8175795G>A	TOPMed
TMEM107	Q6UX40	p.Gly74Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.8175793C>A	NCI-TCGA
TMEM107	Q6UX40	p.Val75Ile	rs1024416036	missense variant	-	NC_000017.11:g.8175790C>T	TOPMed
TMEM107	Q6UX40	p.Asn79Ser	rs1379136806	missense variant	-	NC_000017.11:g.8175777T>C	TOPMed
TMEM107	Q6UX40	p.Ser83Gly	rs139253975	missense variant	-	NC_000017.11:g.8175766T>C	ESP,ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Ile85Thr	rs1350125374	missense variant	-	NC_000017.11:g.8175759A>G	gnomAD
TMEM107	Q6UX40	p.Ile87Thr	rs752106357	missense variant	-	NC_000017.11:g.8174613A>G	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Ile87Val	rs755459310	missense variant	-	NC_000017.11:g.8174614T>C	ExAC,gnomAD
TMEM107	Q6UX40	p.Ala89Val	rs766838320	missense variant	-	NC_000017.11:g.8174607G>A	ExAC,gnomAD
TMEM107	Q6UX40	p.Cys91Tyr	rs1263560335	missense variant	-	NC_000017.11:g.8174601C>T	TOPMed
TMEM107	Q6UX40	p.Ser92Asn	rs763090139	missense variant	-	NC_000017.11:g.8174598C>T	ExAC,gnomAD
TMEM107	Q6UX40	p.Ser94Thr	rs1365234036	missense variant	-	NC_000017.11:g.8174593A>T	TOPMed,gnomAD
TMEM107	Q6UX40	p.Ser94Phe	rs1408799401	missense variant	-	NC_000017.11:g.8174592G>A	gnomAD
TMEM107	Q6UX40	p.Val95Gly	rs765395687	missense variant	-	NC_000017.11:g.8174589A>C	ExAC,gnomAD
TMEM107	Q6UX40	p.Ala96Val	rs762032078	missense variant	-	NC_000017.11:g.8174586G>A	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Ala96Thr	rs1023372990	missense variant	-	NC_000017.11:g.8174587C>T	TOPMed
TMEM107	Q6UX40	p.Ser98Phe	rs1485211497	missense variant	-	NC_000017.11:g.8174580G>A	gnomAD
TMEM107	Q6UX40	p.Phe99Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.8174576G>T	NCI-TCGA
TMEM107	Q6UX40	p.Phe100del	VAR_079329	inframe_deletion	Orofaciodigital syndrome 16 (OFD16) [MIM:617563]	-	UniProt
TMEM107	Q6UX40	p.Phe100del	VAR_079329	inframe_deletion	Meckel syndrome 13 (MKS13) [MIM:617562]	-	UniProt
TMEM107	Q6UX40	p.Phe102Leu	rs775179939	missense variant	-	NC_000017.11:g.8174567G>T	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Glu103Gln	COSM4852818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.8174566C>G	NCI-TCGA Cosmic
TMEM107	Q6UX40	p.Arg104Gly	rs538821271	missense variant	-	NC_000017.11:g.8174563G>C	1000Genomes,ExAC,gnomAD
TMEM107	Q6UX40	p.Arg104Ser	rs538821271	missense variant	-	NC_000017.11:g.8174563G>T	1000Genomes,ExAC,gnomAD
TMEM107	Q6UX40	p.Arg104Pro	rs1368021784	missense variant	-	NC_000017.11:g.8174562C>G	TOPMed
TMEM107	Q6UX40	p.Arg104His	rs1368021784	missense variant	-	NC_000017.11:g.8174562C>T	TOPMed
TMEM107	Q6UX40	p.Trp105Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.8174558C>T	NCI-TCGA
TMEM107	Q6UX40	p.Glu106Asp	rs745637850	missense variant	-	NC_000017.11:g.8174555C>G	ExAC,gnomAD
TMEM107	Q6UX40	p.Cys107Arg	COSM4070948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.8174554A>G	NCI-TCGA Cosmic
TMEM107	Q6UX40	p.Thr109Met	rs1371849426	missense variant	-	NC_000017.11:g.8174547G>A	gnomAD
TMEM107	Q6UX40	p.Tyr112Ter	rs770976637	stop gained	-	NC_000017.11:g.8174537G>T	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Ala119Gly	rs1203515924	missense variant	-	NC_000017.11:g.8174270G>C	gnomAD
TMEM107	Q6UX40	p.Ala122Thr	rs1415518421	missense variant	-	NC_000017.11:g.8174262C>T	gnomAD
TMEM107	Q6UX40	p.Glu125Val	rs761706473	missense variant	-	NC_000017.11:g.8174252T>A	ExAC,gnomAD
TMEM107	Q6UX40	p.Ala127Thr	rs1261556427	missense variant	-	NC_000017.11:g.8174247C>T	TOPMed,gnomAD
TMEM107	Q6UX40	p.Leu128Ter	RCV000495830	frameshift	Meckel syndrome 13 (MKS13)	NC_000017.11:g.8174242del	ClinVar
TMEM107	Q6UX40	p.Val130Ile	rs747577985	missense variant	-	NC_000017.11:g.8174238C>T	ExAC,gnomAD
TMEM107	Q6UX40	p.Val130Leu	rs747577985	missense variant	-	NC_000017.11:g.8174238C>G	ExAC,gnomAD
TMEM107	Q6UX40	p.Val132Leu	rs780962917	missense variant	-	NC_000017.11:g.8174232C>G	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Val132Ile	rs780962917	missense variant	-	NC_000017.11:g.8174232C>T	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Leu135Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.8174222A>G	NCI-TCGA
TMEM107	Q6UX40	p.Lys136Gln	rs1212456331	missense variant	-	NC_000017.11:g.8174220T>G	gnomAD
TMEM107	Q6UX40	p.Lys137Glu	rs780331583	missense variant	-	NC_000017.11:g.8174217T>C	ExAC,gnomAD
TMEM107	Q6UX40	p.Lys137Asn	rs750897292	missense variant	-	NC_000017.11:g.8174215C>A	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Lys137Arg	rs758934871	missense variant	-	NC_000017.11:g.8174216T>C	ExAC,TOPMed,gnomAD
TMEM107	Q6UX40	p.Pro139Arg	rs779269009	missense variant	-	NC_000017.11:g.8174210G>C	ExAC,gnomAD
TMEM107	Q6UX40	p.Phe140Leu	rs757401163	missense variant	-	NC_000017.11:g.8174206G>T	ExAC,gnomAD
TMEM107	Q6UX40	p.Phe140Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.8174206G>C	NCI-TCGA
TMEM107	Q6UX40	p.Ter141Trp	rs371112854	stop lost	-	NC_000017.11:g.8174203T>C	ESP,ExAC
TMEM107	Q6UX40	p.Ter141ArgGluUnkThrTerUnk	NCI-TCGA novel	stop lost	-	NC_000017.11:g.8174205A>G	NCI-TCGA
RSPO2	Q6UXX9	p.Gln2Lys	rs1468346288	missense variant	-	NC_000008.11:g.108082635G>T	gnomAD
RSPO2	Q6UXX9	p.Gln2Arg	COSM4932095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.108082634T>C	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Arg4Cys	rs1271453894	missense variant	-	NC_000008.11:g.108082629G>A	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg4Gly	rs1271453894	missense variant	-	NC_000008.11:g.108082629G>C	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Leu5Pro	rs757934532	missense variant	-	NC_000008.11:g.108082625A>G	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Leu5Phe	rs555188515	missense variant	-	NC_000008.11:g.108082626G>A	1000Genomes,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Leu5Ile	rs555188515	missense variant	-	NC_000008.11:g.108082626G>T	1000Genomes,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Phe6Leu	rs1270740681	missense variant	-	NC_000008.11:g.108082623A>G	TOPMed
RSPO2	Q6UXX9	p.Ser7Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.108082619G>C	NCI-TCGA
RSPO2	Q6UXX9	p.Phe8Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.108082616A>C	NCI-TCGA
RSPO2	Q6UXX9	p.Leu10Val	rs752314217	missense variant	-	NC_000008.11:g.108082611G>C	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ile11Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.108082607A>G	NCI-TCGA
RSPO2	Q6UXX9	p.Ile11Val	rs148112629	missense variant	-	NC_000008.11:g.108082608T>C	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ile11Leu	rs148112629	missense variant	-	NC_000008.11:g.108082608T>G	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ile11Met	rs761309497	missense variant	-	NC_000008.11:g.108082606G>C	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Leu13Pro	rs773874508	missense variant	-	NC_000008.11:g.108082601A>G	ExAC,gnomAD
RSPO2	Q6UXX9	p.Cys15Arg	rs1345485042	missense variant	-	NC_000008.11:g.108082596A>G	gnomAD
RSPO2	Q6UXX9	p.Met16Val	rs370155369	missense variant	-	NC_000008.11:g.108082593T>C	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Asp17Asn	COSM1094782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.108082590C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Asp17Glu	COSM6112004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.108082588A>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Ser19Arg	rs768980014	missense variant	-	NC_000008.11:g.108082582G>T	ExAC,gnomAD
RSPO2	Q6UXX9	p.Gly23Ser	rs1454064180	missense variant	-	NC_000008.11:g.108082572C>T	gnomAD
RSPO2	Q6UXX9	p.Asn24Lys	rs541770055	missense variant	-	NC_000008.11:g.108082567G>C	1000Genomes,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg25Gly	rs143724513	missense variant	-	NC_000008.11:g.108082566G>C	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg27Ile	rs770791000	missense variant	-	NC_000008.11:g.108082559C>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg28His	rs777420823	missense variant	-	NC_000008.11:g.108082556C>T	ExAC,gnomAD
RSPO2	Q6UXX9	p.Arg28Leu	rs777420823	missense variant	-	NC_000008.11:g.108082556C>A	ExAC,gnomAD
RSPO2	Q6UXX9	p.Arg28Cys	COSM145895	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.108082557G>A	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Ser29Cys	rs758105036	missense variant	-	NC_000008.11:g.108082554T>A	ExAC,gnomAD
RSPO2	Q6UXX9	p.Lys30Glu	rs752266481	missense variant	-	NC_000008.11:g.108082551T>C	ExAC
RSPO2	Q6UXX9	p.Lys30Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.108082550T>C	NCI-TCGA
RSPO2	Q6UXX9	p.Lys30Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.108082550T>G	NCI-TCGA
RSPO2	Q6UXX9	p.Arg31Pro	rs368258992	missense variant	-	NC_000008.11:g.108082547C>G	ESP
RSPO2	Q6UXX9	p.Ser33Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107989240A>C	NCI-TCGA
RSPO2	Q6UXX9	p.Tyr34Cys	rs763230106	missense variant	-	NC_000008.11:g.107989238T>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Val35Ile	rs1399270598	missense variant	-	NC_000008.11:g.107989236C>T	TOPMed
RSPO2	Q6UXX9	p.Ser36Leu	rs765464784	missense variant	-	NC_000008.11:g.107989232G>A	ExAC,gnomAD
RSPO2	Q6UXX9	p.Asn37Ser	rs1158899940	missense variant	-	NC_000008.11:g.107989229T>C	TOPMed
RSPO2	Q6UXX9	p.Asn37Lys	rs1366699334	missense variant	-	NC_000008.11:g.107989228A>T	TOPMed
RSPO2	Q6UXX9	p.Gly42Arg	rs759729631	missense variant	-	NC_000008.11:g.107989215C>G	ExAC,TOPMed
RSPO2	Q6UXX9	p.Gly42Ter	RCV000656658	frameshift	TETRAAMELIA SYNDROME 2 (TETAMS2)	NC_000008.11:g.107989216del	ClinVar
RSPO2	Q6UXX9	p.Cys43Tyr	rs1249794255	missense variant	-	NC_000008.11:g.107989211C>T	gnomAD
RSPO2	Q6UXX9	p.Cys43Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107989212A>G	NCI-TCGA
RSPO2	Q6UXX9	p.Leu44Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107989209A>C	NCI-TCGA
RSPO2	Q6UXX9	p.Ser45Pro	rs368908416	missense variant	-	NC_000008.11:g.107989206A>G	ESP,ExAC,gnomAD
RSPO2	Q6UXX9	p.Ser45Phe	rs766437369	missense variant	-	NC_000008.11:g.107989205G>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Cys46Phe	rs867807924	missense variant	-	NC_000008.11:g.107989202C>A	gnomAD
RSPO2	Q6UXX9	p.Cys46Trp	rs760755130	missense variant	-	NC_000008.11:g.107989201A>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Asp49Asn	COSM3924472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989194C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Asn50Ser	rs1344257606	missense variant	-	NC_000008.11:g.107989190T>C	TOPMed
RSPO2	Q6UXX9	p.Gly51Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107989187C>T	NCI-TCGA
RSPO2	Q6UXX9	p.Gly51Val	COSM453838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989187C>A	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Gly51Arg	COSM748829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989188C>G	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Cys52Arg	rs747919315	missense variant	-	NC_000008.11:g.107989185A>G	ExAC,gnomAD
RSPO2	Q6UXX9	p.Cys52Phe	rs774174845	missense variant	-	NC_000008.11:g.107989184C>A	ExAC,gnomAD
RSPO2	Q6UXX9	p.Ser53Asn	rs768464293	missense variant	-	NC_000008.11:g.107989181C>T	ExAC,gnomAD
RSPO2	Q6UXX9	p.Ser53Arg	COSM748830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989180G>C	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Arg54Gln	rs539897843	missense variant	-	NC_000008.11:g.107989178C>T	1000Genomes,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg54Ter	rs1460069208	stop gained	-	NC_000008.11:g.107989179G>A	gnomAD
RSPO2	Q6UXX9	p.Cys55Arg	rs1280882436	missense variant	-	NC_000008.11:g.107989176A>G	TOPMed
RSPO2	Q6UXX9	p.Gln57His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107989168C>A	NCI-TCGA
RSPO2	Q6UXX9	p.Leu59Phe	rs779767746	missense variant	-	NC_000008.11:g.107989162C>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Phe60Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107989161A>G	NCI-TCGA
RSPO2	Q6UXX9	p.Phe60Leu	rs149399382	missense variant	-	NC_000008.11:g.107989159G>C	ESP,TOPMed
RSPO2	Q6UXX9	p.Phe60Leu	rs149399382	missense variant	-	NC_000008.11:g.107989159G>T	ESP,TOPMed
RSPO2	Q6UXX9	p.Phe62Ser	COSM748831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989154A>G	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Leu63Phe	COSM748832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989152G>A	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Arg64Gln	rs182334537	missense variant	-	NC_000008.11:g.107989148C>T	1000Genomes,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg64Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.107989149G>A	NCI-TCGA
RSPO2	Q6UXX9	p.Arg64Pro	rs182334537	missense variant	-	NC_000008.11:g.107989148C>G	1000Genomes,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Glu66Asp	rs189754456	missense variant	-	NC_000008.11:g.107989141T>G	1000Genomes,TOPMed
RSPO2	Q6UXX9	p.Glu66Lys	rs745308347	missense variant	-	NC_000008.11:g.107989143C>T	ExAC,gnomAD
RSPO2	Q6UXX9	p.Gly67Arg	rs778172689	missense variant	-	NC_000008.11:g.107989140C>G	ExAC,gnomAD
RSPO2	Q6UXX9	p.Gly67Val	rs1455373749	missense variant	-	NC_000008.11:g.107989139C>A	gnomAD
RSPO2	Q6UXX9	p.Gly67Glu	COSM3643898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989139C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Gly67Trp	COSM6112005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989140C>A	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Arg69Ser	rs758888137	missense variant	-	NC_000008.11:g.107989134G>T	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg69Cys	rs758888137	missense variant	-	NC_000008.11:g.107989134G>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg69His	rs747238565	missense variant	-	NC_000008.11:g.107989133C>T	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg69Cys	RCV000656660	missense variant	HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY (HHRRD)	NC_000008.11:g.107989134G>A	ClinVar
RSPO2	Q6UXX9	p.Arg69Cys	VAR_081036	Missense	Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) [MIM:618022]	-	UniProt
RSPO2	Q6UXX9	p.Gln70His	rs1449497581	missense variant	-	NC_000008.11:g.107989129C>G	gnomAD
RSPO2	Q6UXX9	p.Gln70His	COSM284715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989129C>A	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Gln70_Gln243del	VAR_081037	inframe_deletion	Tetraamelia syndrome 2 (TETAMS2) [MIM:618021]	-	UniProt
RSPO2	Q6UXX9	p.Tyr71Cys	rs765551185	missense variant	-	NC_000008.11:g.107989127T>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Gly72Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107989124C>T	NCI-TCGA
RSPO2	Q6UXX9	p.Gly72Ala	COSM3884665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989124C>G	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Gly72Arg	COSM5538411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107989125C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Glu73Gln	rs1205170970	missense variant	-	NC_000008.11:g.107989122C>G	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Pro79Leu	rs1284433818	missense variant	-	NC_000008.11:g.107989103G>A	gnomAD
RSPO2	Q6UXX9	p.Gly81Glu	rs1303112979	missense variant	-	NC_000008.11:g.107989097C>T	gnomAD
RSPO2	Q6UXX9	p.Gly81Arg	rs139268055	missense variant	-	NC_000008.11:g.107989098C>T	ESP,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Tyr82His	rs754077477	missense variant	-	NC_000008.11:g.107989095A>G	ExAC,gnomAD
RSPO2	Q6UXX9	p.Tyr83Cys	rs1319262945	missense variant	-	NC_000008.11:g.107989091T>C	gnomAD
RSPO2	Q6UXX9	p.Gly84Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107989088C>T	NCI-TCGA
RSPO2	Q6UXX9	p.His85Gln	rs760703263	missense variant	-	NC_000008.11:g.107989084G>T	ExAC,gnomAD
RSPO2	Q6UXX9	p.Arg86Gln	rs202023955	missense variant	-	NC_000008.11:g.107989082C>T	1000Genomes,ExAC,gnomAD
RSPO2	Q6UXX9	p.Arg86Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107989082C>A	NCI-TCGA
RSPO2	Q6UXX9	p.Arg86Ter	rs773297160	stop gained	-	NC_000008.11:g.107989083G>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ala87Ser	rs146879547	missense variant	-	NC_000008.11:g.107989080C>A	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Pro88Leu	rs866661505	missense variant	-	NC_000008.11:g.107989076G>A	gnomAD
RSPO2	Q6UXX9	p.Pro88Ser	rs774354810	missense variant	-	NC_000008.11:g.107989077G>A	ExAC,gnomAD
RSPO2	Q6UXX9	p.Pro88Ala	rs774354810	missense variant	-	NC_000008.11:g.107989077G>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Asp89Glu	rs374497297	missense variant	-	NC_000008.11:g.107989072A>T	ESP,TOPMed
RSPO2	Q6UXX9	p.Asp89His	rs1157466005	missense variant	-	NC_000008.11:g.107989074C>G	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Asp89ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.107989078_107989079insT	NCI-TCGA
RSPO2	Q6UXX9	p.Met90Arg	rs1243442989	missense variant	-	NC_000008.11:g.107989070A>C	gnomAD
RSPO2	Q6UXX9	p.Met90Val	rs1468343162	missense variant	-	NC_000008.11:g.107989071T>C	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Asn91Asp	rs1441104270	missense variant	-	NC_000008.11:g.107989068T>C	TOPMed
RSPO2	Q6UXX9	p.Arg95Gly	rs962970462	missense variant	-	NC_000008.11:g.107989056T>C	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg95Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107960817C>T	NCI-TCGA
RSPO2	Q6UXX9	p.Arg95Ser	rs568583994	missense variant	-	NC_000008.11:g.107960816T>A	1000Genomes,ExAC,gnomAD
RSPO2	Q6UXX9	p.Cys96Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107960814C>A	NCI-TCGA
RSPO2	Q6UXX9	p.Ile98Leu	COSM1488888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107960809T>A	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Asn100His	rs1195642001	missense variant	-	NC_000008.11:g.107960803T>G	gnomAD
RSPO2	Q6UXX9	p.Cys101Arg	rs775374943	missense variant	-	NC_000008.11:g.107960800A>G	ExAC,gnomAD
RSPO2	Q6UXX9	p.Asp102Val	rs769378904	missense variant	-	NC_000008.11:g.107960796T>A	ExAC
RSPO2	Q6UXX9	p.Asp102Asn	COSM3643897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107960797C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Phe105Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107960788A>G	NCI-TCGA
RSPO2	Q6UXX9	p.Asp108Glu	rs776067721	missense variant	-	NC_000008.11:g.107960777G>T	ExAC,gnomAD
RSPO2	Q6UXX9	p.Asp108Tyr	rs1370386696	missense variant	-	NC_000008.11:g.107960779C>A	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Asp108Tyr	rs1370386696	missense variant	-	NC_000008.11:g.107960779C>A	TOPMed
RSPO2	Q6UXX9	p.Cys110Arg	rs1348823437	missense variant	-	NC_000008.11:g.107960773A>G	gnomAD
RSPO2	Q6UXX9	p.Cys110Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107960772C>T	NCI-TCGA
RSPO2	Q6UXX9	p.Lys112Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107960767T>G	NCI-TCGA
RSPO2	Q6UXX9	p.Lys112Asn	rs770458544	missense variant	-	NC_000008.11:g.107960765C>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Lys114Arg	rs746453626	missense variant	-	NC_000008.11:g.107960760T>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Gly116Asp	rs769106083	missense variant	-	NC_000008.11:g.107960754C>T	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Gly116Val	rs769106083	missense variant	-	NC_000008.11:g.107960754C>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.His120Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107960743G>T	NCI-TCGA
RSPO2	Q6UXX9	p.Arg121Gly	rs756359748	missense variant	-	NC_000008.11:g.107960740T>C	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Gly122Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107960736C>T	NCI-TCGA
RSPO2	Q6UXX9	p.Gly122Ser	rs867580351	missense variant	-	NC_000008.11:g.107960737C>T	TOPMed
RSPO2	Q6UXX9	p.Arg123Ser	rs192607553	missense variant	-	NC_000008.11:g.107960734G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg123Cys	rs192607553	missense variant	-	NC_000008.11:g.107960734G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg123His	rs376412378	missense variant	-	NC_000008.11:g.107960733C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Glu127Ter	COSM3884662	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.107960722C>A	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Cys128Tyr	rs752947067	missense variant	-	NC_000008.11:g.107960718C>T	ExAC,gnomAD
RSPO2	Q6UXX9	p.Pro129Leu	rs1359670074	missense variant	-	NC_000008.11:g.107960715G>A	gnomAD
RSPO2	Q6UXX9	p.Pro129Ser	rs764147792	missense variant	-	NC_000008.11:g.107960716G>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Gly131Cys	COSM748834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107960710C>A	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Ala133Val	rs142649056	missense variant	-	NC_000008.11:g.107960703G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Pro134Gln	COSM6112006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107960700G>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Glu137Ter	rs1554576888	stop gained	-	NC_000008.11:g.107960692C>A	-
RSPO2	Q6UXX9	p.Glu137Ala	rs1214561465	missense variant	-	NC_000008.11:g.107960691T>G	gnomAD
RSPO2	Q6UXX9	p.Glu137Ter	RCV000656659	nonsense	TETRAAMELIA SYNDROME 2 (TETAMS2)	NC_000008.11:g.107960692C>A	ClinVar
RSPO2	Q6UXX9	p.Glu137Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107960692C>T	NCI-TCGA
RSPO2	Q6UXX9	p.Glu137_Gln243del	VAR_081038	inframe_deletion	Tetraamelia syndrome 2 (TETAMS2) [MIM:618021]	-	UniProt
RSPO2	Q6UXX9	p.Thr138Ile	rs948771132	missense variant	-	NC_000008.11:g.107960688G>A	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Met139Thr	rs938897531	missense variant	-	NC_000008.11:g.107960685A>G	TOPMed
RSPO2	Q6UXX9	p.Met139Val	rs373151135	missense variant	-	NC_000008.11:g.107960686T>C	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Glu140Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107960683C>T	NCI-TCGA
RSPO2	Q6UXX9	p.Cys141Arg	rs368950936	missense variant	-	NC_000008.11:g.107960680A>G	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Cys141Gly	rs368950936	missense variant	-	NC_000008.11:g.107960680A>C	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Val142Met	rs377563913	missense variant	-	NC_000008.11:g.107960677C>T	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Val147Phe	rs1157598979	missense variant	-	NC_000008.11:g.107958257C>A	gnomAD
RSPO2	Q6UXX9	p.Gly148Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107958253C>A	NCI-TCGA
RSPO2	Q6UXX9	p.Gly148Ala	rs1418395272	missense variant	-	NC_000008.11:g.107958253C>G	gnomAD
RSPO2	Q6UXX9	p.Gly148Ser	COSM76300	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107958254C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.His149Arg	rs147756016	missense variant	-	NC_000008.11:g.107958250T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.His149Leu	rs147756016	missense variant	-	NC_000008.11:g.107958250T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ser151Arg	rs150297181	missense variant	-	NC_000008.11:g.107958243G>C	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ser151Asn	rs543739350	missense variant	-	NC_000008.11:g.107958244C>T	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Glu152Asp	rs1178258792	missense variant	-	NC_000008.11:g.107958240T>A	TOPMed
RSPO2	Q6UXX9	p.Glu152Lys	rs140125293	missense variant	-	NC_000008.11:g.107958242C>T	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Glu152Ter	rs140125293	stop gained	-	NC_000008.11:g.107958242C>A	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Trp153Ser	rs1252075737	missense variant	-	NC_000008.11:g.107958238C>G	TOPMed
RSPO2	Q6UXX9	p.Gly154Glu	rs767003645	missense variant	-	NC_000008.11:g.107958235C>T	ExAC,gnomAD
RSPO2	Q6UXX9	p.Gly154Arg	COSM3924471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107958236C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Ser157Arg	COSM748835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107958225G>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Asn159Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107958221T>A	NCI-TCGA
RSPO2	Q6UXX9	p.Arg161Cys	rs776068927	missense variant	-	NC_000008.11:g.107958215G>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg161Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107958214C>G	NCI-TCGA
RSPO2	Q6UXX9	p.Arg161His	rs770159956	missense variant	-	NC_000008.11:g.107958214C>T	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Cys163Arg	rs1311412050	missense variant	-	NC_000008.11:g.107958209A>G	gnomAD
RSPO2	Q6UXX9	p.Gly164Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107958205C>T	NCI-TCGA
RSPO2	Q6UXX9	p.Gly164Arg	COSM3643894	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107958206C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Gly168Ala	rs771315758	missense variant	-	NC_000008.11:g.107958193C>G	ExAC,gnomAD
RSPO2	Q6UXX9	p.Leu169Arg	rs1362294787	missense variant	-	NC_000008.11:g.107958190A>C	gnomAD
RSPO2	Q6UXX9	p.Leu169Met	rs747227279	missense variant	-	NC_000008.11:g.107958191G>T	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Thr173Ile	rs778053213	missense variant	-	NC_000008.11:g.107958178G>A	ExAC,gnomAD
RSPO2	Q6UXX9	p.Arg174Trp	rs758562140	missense variant	-	NC_000008.11:g.107958176G>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Arg174Gln	rs369770616	missense variant	-	NC_000008.11:g.107958175C>T	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Gln175Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.107958173G>A	NCI-TCGA
RSPO2	Q6UXX9	p.Ile176Met	rs200806324	missense variant	-	NC_000008.11:g.107958168A>C	ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Val177Leu	COSM6179486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107958167C>G	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Lys179Asn	rs1465807706	missense variant	-	NC_000008.11:g.107958159C>A	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Pro180Gln	rs1017150632	missense variant	-	NC_000008.11:g.107958157G>T	gnomAD
RSPO2	Q6UXX9	p.Val181Ala	rs1429320861	missense variant	-	NC_000008.11:g.107958154A>G	gnomAD
RSPO2	Q6UXX9	p.Val181Gly	COSM3643893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107958154A>C	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Val181Leu	rs1173067908	missense variant	-	NC_000008.11:g.107958155C>A	gnomAD
RSPO2	Q6UXX9	p.Lys182Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107958150T>A	NCI-TCGA
RSPO2	Q6UXX9	p.Lys182Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107958152T>C	NCI-TCGA
RSPO2	Q6UXX9	p.Asp183Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107958149C>A	NCI-TCGA
RSPO2	Q6UXX9	p.Asp183Asn	rs754851458	missense variant	-	NC_000008.11:g.107958149C>T	ExAC,gnomAD
RSPO2	Q6UXX9	p.Asp183Glu	COSM258679	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107958147G>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Thr184Ala	rs766158953	missense variant	-	NC_000008.11:g.107958146T>C	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ile185Thr	rs1211522253	missense variant	-	NC_000008.11:g.107958142A>G	gnomAD
RSPO2	Q6UXX9	p.Ile185Val	rs750305724	missense variant	-	NC_000008.11:g.107958143T>C	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Leu186Gln	rs601558	missense variant	-	NC_000008.11:g.107958139A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Leu186Pro	rs601558	missense variant	-	NC_000008.11:g.107958139A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Leu186Val	rs1312739300	missense variant	-	NC_000008.11:g.107958140G>C	gnomAD
RSPO2	Q6UXX9	p.Pro188Thr	rs1206425262	missense variant	-	NC_000008.11:g.107958134G>T	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Thr189Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107958131T>C	NCI-TCGA
RSPO2	Q6UXX9	p.Ala191Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107958124G>T	NCI-TCGA
RSPO2	Q6UXX9	p.Glu192Ala	rs1277215213	missense variant	-	NC_000008.11:g.107958121T>G	gnomAD
RSPO2	Q6UXX9	p.Ser193Thr	rs1379826246	missense variant	-	NC_000008.11:g.107958119A>T	gnomAD
RSPO2	Q6UXX9	p.Met198Val	rs773684845	missense variant	-	NC_000008.11:g.107958104T>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Met198Thr	rs1395955480	missense variant	-	NC_000008.11:g.107958103A>G	gnomAD
RSPO2	Q6UXX9	p.Met200Val	rs765819930	missense variant	-	NC_000008.11:g.107958098T>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Pro204Arg	rs777116789	missense variant	-	NC_000008.11:g.107958085G>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Pro204Ser	rs1034128365	missense variant	-	NC_000008.11:g.107958086G>A	TOPMed
RSPO2	Q6UXX9	p.Thr209Ile	rs1023648455	missense variant	-	NC_000008.11:g.107901181G>A	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Lys211Asn	rs181500705	missense variant	-	NC_000008.11:g.107901174C>A	1000Genomes,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Lys211Arg	rs1012287687	missense variant	-	NC_000008.11:g.107901175T>C	TOPMed
RSPO2	Q6UXX9	p.Lys211Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107901176T>G	NCI-TCGA
RSPO2	Q6UXX9	p.Lys211Glu	rs773694222	missense variant	-	NC_000008.11:g.107901176T>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Ala212Thr	rs188606837	missense variant	-	NC_000008.11:g.107901173C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ala212Val	rs759429253	missense variant	-	NC_000008.11:g.107901172G>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Glu214Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107901165C>A	NCI-TCGA
RSPO2	Q6UXX9	p.Glu214Asp	COSM3833853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107901165C>G	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Glu214Lys	COSM3924470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107901167C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Lys215Asn	COSM748836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107901162C>G	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Arg216Ser	rs1462832583	missense variant	-	NC_000008.11:g.107901159C>G	TOPMed
RSPO2	Q6UXX9	p.Asn217Lys	rs1289590827	missense variant	-	NC_000008.11:g.107901156G>T	TOPMed,gnomAD
RSPO2	Q6UXX9	p.Lys218Gln	rs749323272	missense variant	-	NC_000008.11:g.107901155T>G	ExAC,gnomAD
RSPO2	Q6UXX9	p.Lys218Asn	rs902694121	missense variant	-	NC_000008.11:g.107901153C>G	TOPMed
RSPO2	Q6UXX9	p.Lys220Asn	rs779998286	missense variant	-	NC_000008.11:g.107901147C>A	NCI-TCGA
RSPO2	Q6UXX9	p.Lys220Asn	rs779998286	missense variant	-	NC_000008.11:g.107901147C>A	ExAC,gnomAD
RSPO2	Q6UXX9	p.Lys221Asn	rs769669271	missense variant	-	NC_000008.11:g.107901144T>A	ExAC,gnomAD
RSPO2	Q6UXX9	p.Arg222Thr	rs745711987	missense variant	-	NC_000008.11:g.107901142C>G	ExAC
RSPO2	Q6UXX9	p.Leu224Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107901137G>T	NCI-TCGA
RSPO2	Q6UXX9	p.Leu224Pro	rs780932645	missense variant	-	NC_000008.11:g.107901136A>G	ExAC,gnomAD
RSPO2	Q6UXX9	p.Arg227Gly	rs1337639104	missense variant	-	NC_000008.11:g.107901128T>C	TOPMed
RSPO2	Q6UXX9	p.Ala228Ser	rs757000039	missense variant	-	NC_000008.11:g.107901125C>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ala228Asp	rs777423714	missense variant	-	NC_000008.11:g.107901124G>T	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ala228Val	rs777423714	missense variant	-	NC_000008.11:g.107901124G>A	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Gln231Glu	rs1488233215	missense variant	-	NC_000008.11:g.107901116G>C	gnomAD
RSPO2	Q6UXX9	p.Ser233Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107901109C>A	NCI-TCGA
RSPO2	Q6UXX9	p.Ser233Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.107901108G>T	NCI-TCGA
RSPO2	Q6UXX9	p.Ser233Gly	rs564925416	missense variant	-	NC_000008.11:g.107901110T>C	1000Genomes,ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Ser233Asn	COSM1094776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.107901109C>T	NCI-TCGA Cosmic
RSPO2	Q6UXX9	p.Val234Ile	rs761237646	missense variant	-	NC_000008.11:g.107901107C>T	ExAC,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Val234Ala	rs546074157	missense variant	-	NC_000008.11:g.107901106A>G	1000Genomes,ExAC,gnomAD
RSPO2	Q6UXX9	p.Val234Ile	rs761237646	missense variant	-	NC_000008.11:g.107901107C>T	NCI-TCGA
RSPO2	Q6UXX9	p.Leu236Arg	rs1274451054	missense variant	-	NC_000008.11:g.107901100A>C	TOPMed
RSPO2	Q6UXX9	p.Leu236Val	rs762180746	missense variant	-	NC_000008.11:g.107901101G>C	ExAC,gnomAD
RSPO2	Q6UXX9	p.Asp239Ala	rs768883871	missense variant	-	NC_000008.11:g.107901091T>G	ExAC,gnomAD
RSPO2	Q6UXX9	p.Arg240Thr	rs890171455	missense variant	-	NC_000008.11:g.107901088C>G	TOPMed
RSPO2	Q6UXX9	p.Arg240Ter	rs1296285320	stop gained	-	NC_000008.11:g.107901089T>A	gnomAD
RSPO2	Q6UXX9	p.Ala241Thr	rs370736291	missense variant	-	NC_000008.11:g.107901086C>T	ESP,TOPMed,gnomAD
RSPO2	Q6UXX9	p.Gln243Pro	rs769760824	missense variant	-	NC_000008.11:g.107901079T>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Leu2His	rs1042249101	missense variant	-	NC_000007.14:g.16465664A>T	TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Pro3Arg	rs1193130548	missense variant	-	NC_000007.14:g.16465661G>C	gnomAD
SOSTDC1	Q6X4U4	p.Pro3Thr	rs1371819953	missense variant	-	NC_000007.14:g.16465662G>T	gnomAD
SOSTDC1	Q6X4U4	p.Pro3GluMet	NCI-TCGA novel	insertion	-	NC_000007.14:g.16465659_16465660insCATTTC	NCI-TCGA
SOSTDC1	Q6X4U4	p.Ala5Val	rs146877090	missense variant	-	NC_000007.14:g.16465655G>A	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Ala5Thr	rs749975640	missense variant	-	NC_000007.14:g.16465656C>T	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.His7Arg	rs757515286	missense variant	-	NC_000007.14:g.16465649T>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Tyr9Cys	rs201141429	missense variant	-	NC_000007.14:g.16465643T>C	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Leu11Phe	COSM3636904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.16465638G>A	NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Pro12Leu	rs1233884366	missense variant	-	NC_000007.14:g.16465634G>A	gnomAD
SOSTDC1	Q6X4U4	p.Pro12Ala	COSM1329916	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.16465635G>C	NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Ile16Thr	rs1439977997	missense variant	-	NC_000007.14:g.16465622A>G	gnomAD
SOSTDC1	Q6X4U4	p.Ile16Val	rs1300963630	missense variant	-	NC_000007.14:g.16465623T>C	gnomAD
SOSTDC1	Q6X4U4	p.Leu17Pro	rs1275991261	missense variant	-	NC_000007.14:g.16465619A>G	TOPMed
SOSTDC1	Q6X4U4	p.Leu17Val	rs1370482439	missense variant	-	NC_000007.14:g.16465620G>C	gnomAD
SOSTDC1	Q6X4U4	p.Lys19Thr	rs764764953	missense variant	-	NC_000007.14:g.16465613T>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Ser20Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.16465610C>T	NCI-TCGA
SOSTDC1	Q6X4U4	p.Cys21Ser	rs1354977912	missense variant	-	NC_000007.14:g.16465607C>G	gnomAD
SOSTDC1	Q6X4U4	p.Lys25Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.16465596T>A	NCI-TCGA
SOSTDC1	Q6X4U4	p.Asp27Val	rs1167778470	missense variant	-	NC_000007.14:g.16465589T>A	gnomAD
SOSTDC1	Q6X4U4	p.Asp27Asn	rs1251479346	missense variant	-	NC_000007.14:g.16465590C>T	TOPMed
SOSTDC1	Q6X4U4	p.Ala28Pro	rs752836380	missense variant	-	NC_000007.14:g.16465587C>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Thr29Ser	rs765339535	missense variant	-	NC_000007.14:g.16465584T>A	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Thr29Ala	rs765339535	missense variant	-	NC_000007.14:g.16465584T>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Leu32Ile	COSM3879934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.16465575G>T	NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Ser34Pro	rs1056056308	missense variant	-	NC_000007.14:g.16465569A>G	TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.His35Asn	rs776665358	missense variant	-	NC_000007.14:g.16465566G>T	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.His35Asp	rs776665358	missense variant	-	NC_000007.14:g.16465566G>C	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.His35Arg	rs200976995	missense variant	-	NC_000007.14:g.16465565T>C	1000Genomes,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.His35Tyr	rs776665358	missense variant	-	NC_000007.14:g.16465566G>A	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.His35Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.16465564A>C	NCI-TCGA
SOSTDC1	Q6X4U4	p.Lys38ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.16465545_16465558CTGGAACAGGTTTA>-	NCI-TCGA
SOSTDC1	Q6X4U4	p.Pro41Ser	rs143414289	missense variant	-	NC_000007.14:g.16465548G>A	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Pro41Ala	rs143414289	missense variant	-	NC_000007.14:g.16465548G>C	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.His43Gln	rs149220410	missense variant	-	NC_000007.14:g.16465540G>T	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Pro44Arg	rs749168944	missense variant	-	NC_000007.14:g.16465538G>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Pro44Ala	rs972881922	missense variant	-	NC_000007.14:g.16465539G>C	TOPMed
SOSTDC1	Q6X4U4	p.Ser46Arg	rs1354173806	missense variant	-	NC_000007.14:g.16465531G>C	gnomAD
SOSTDC1	Q6X4U4	p.Ser48Ile	rs779546065	missense variant	-	NC_000007.14:g.16465526C>A	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Thr49Met	rs372761532	missense variant	-	NC_000007.14:g.16465523G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Thr49Ser	rs745557822	missense variant	-	NC_000007.14:g.16465524T>A	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Thr49GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.16465524_16465525insGCGATTTGATAGGTATGTTCTCTAATTG	NCI-TCGA
SOSTDC1	Q6X4U4	p.Leu50Met	rs1311648591	missense variant	-	NC_000007.14:g.16465521A>T	gnomAD
SOSTDC1	Q6X4U4	p.Leu50Phe	rs140752909	missense variant	-	NC_000007.14:g.16465519C>A	1000Genomes,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Asn51Ser	rs778224847	missense variant	-	NC_000007.14:g.16465517T>C	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Asn55Ile	rs1468270537	missense variant	-	NC_000007.14:g.16465505T>A	TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Asn55His	COSM3879933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.16465506T>G	NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Arg58Ser	rs753212683	missense variant	-	NC_000007.14:g.16465495C>G	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.His59Gln	rs199505711	missense variant	-	NC_000007.14:g.16465492A>T	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Phe60Cys	rs753919706	missense variant	-	NC_000007.14:g.16465490A>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Leu65Met	rs1210112237	missense variant	-	NC_000007.14:g.16465476G>T	NCI-TCGA
SOSTDC1	Q6X4U4	p.Leu65Met	rs1210112237	missense variant	-	NC_000007.14:g.16465476G>T	gnomAD
SOSTDC1	Q6X4U4	p.Asp66His	rs1488458082	missense variant	-	NC_000007.14:g.16465473C>G	gnomAD
SOSTDC1	Q6X4U4	p.Asp66Val	rs760941550	missense variant	-	NC_000007.14:g.16465472T>A	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Asp66Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.16465473C>T	NCI-TCGA
SOSTDC1	Q6X4U4	p.Arg67Gln	rs762912136	missense variant	-	NC_000007.14:g.16465469C>T	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Arg67Gly	rs778378406	missense variant	-	NC_000007.14:g.16465470G>C	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg67Trp	rs778378406	missense variant	-	NC_000007.14:g.16465470G>A	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg67Trp	rs778378406	missense variant	-	NC_000007.14:g.16465470G>A	NCI-TCGA,NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Asn68Lys	rs1279233325	missense variant	-	NC_000007.14:g.16465465G>C	gnomAD
SOSTDC1	Q6X4U4	p.Thr69Ile	rs771816268	missense variant	-	NC_000007.14:g.16462963G>A	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg70Pro	rs755457276	missense variant	-	NC_000007.14:g.16462960C>G	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg70Leu	rs755457276	missense variant	-	NC_000007.14:g.16462960C>A	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg70Trp	rs748586260	missense variant	-	NC_000007.14:g.16462961G>A	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Arg70Gln	rs755457276	missense variant	-	NC_000007.14:g.16462960C>T	NCI-TCGA
SOSTDC1	Q6X4U4	p.Arg70Gln	rs755457276	missense variant	-	NC_000007.14:g.16462960C>T	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Val71Phe	rs749740097	missense variant	-	NC_000007.14:g.16462958C>A	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Gln72Pro	rs780030476	missense variant	-	NC_000007.14:g.16462954T>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Val73Ala	rs201667417	missense variant	-	NC_000007.14:g.16462951A>G	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Cys75Phe	rs1314669256	missense variant	-	NC_000007.14:g.16462945C>A	gnomAD
SOSTDC1	Q6X4U4	p.Arg76Gln	rs750480433	missense variant	-	NC_000007.14:g.16462942C>T	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Arg76Trp	rs1432584291	missense variant	-	NC_000007.14:g.16462943G>A	TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Glu77Asp	rs767768150	missense variant	-	NC_000007.14:g.16462938T>G	ExAC,TOPMed
SOSTDC1	Q6X4U4	p.Arg79Cys	rs752502638	missense variant	-	NC_000007.14:g.16462934G>A	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg79His	rs1410527496	missense variant	-	NC_000007.14:g.16462933C>T	gnomAD
SOSTDC1	Q6X4U4	p.Thr81Ala	rs765015927	missense variant	-	NC_000007.14:g.16462928T>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Thr81Ile	rs759422466	missense variant	-	NC_000007.14:g.16462927G>A	ExAC,TOPMed
SOSTDC1	Q6X4U4	p.Ile84Val	rs776580197	missense variant	-	NC_000007.14:g.16462919T>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Gln88Arg	rs375054577	missense variant	-	NC_000007.14:g.16462906T>C	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Ile92Val	rs1355572419	missense variant	-	NC_000007.14:g.16462895T>C	gnomAD
SOSTDC1	Q6X4U4	p.Pro94Ser	rs761503585	missense variant	-	NC_000007.14:g.16462889G>A	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Glu97Lys	rs1211991696	missense variant	-	NC_000007.14:g.16462880C>T	TOPMed
SOSTDC1	Q6X4U4	p.Val99Met	rs1282047291	missense variant	-	NC_000007.14:g.16462874C>T	TOPMed
SOSTDC1	Q6X4U4	p.Glu103Lys	rs1001089128	missense variant	-	NC_000007.14:g.16462862C>T	gnomAD
SOSTDC1	Q6X4U4	p.Pro106Ser	rs749784692	missense variant	-	NC_000007.14:g.16462853G>A	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Pro106Leu	rs1186273701	missense variant	-	NC_000007.14:g.16462852G>A	TOPMed
SOSTDC1	Q6X4U4	p.Pro108Ser	rs770171919	missense variant	-	NC_000007.14:g.16462847G>A	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Pro108Ala	rs770171919	missense variant	-	NC_000007.14:g.16462847G>C	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Val109Leu	rs746015616	missense variant	-	NC_000007.14:g.16462844C>G	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Pro111Ser	rs1045364308	missense variant	-	NC_000007.14:g.16462838G>A	-
SOSTDC1	Q6X4U4	p.Pro111Ser	rs1045364308	missense variant	-	NC_000007.14:g.16462838G>A	NCI-TCGA
SOSTDC1	Q6X4U4	p.Pro111Leu	COSM3636901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.16462837G>A	NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Ile114Thr	rs540348040	missense variant	-	NC_000007.14:g.16462828A>G	1000Genomes,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Gly116Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.16462823C>A	NCI-TCGA
SOSTDC1	Q6X4U4	p.Gly116AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.16462798_16462822CTCCAGTACTTTGTTCCATAGCCTC>-	NCI-TCGA
SOSTDC1	Q6X4U4	p.Gly117Ala	rs374376320	missense variant	-	NC_000007.14:g.16462819C>G	ESP,ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Thr120Ile	rs759245928	missense variant	-	NC_000007.14:g.16462810G>A	TOPMed
SOSTDC1	Q6X4U4	p.Thr120Arg	rs759245928	missense variant	-	NC_000007.14:g.16462810G>C	TOPMed
SOSTDC1	Q6X4U4	p.Lys121Glu	rs1187447020	missense variant	-	NC_000007.14:g.16462808T>C	TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Tyr122Phe	rs1258536161	missense variant	-	NC_000007.14:g.16462804T>A	TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Tyr122His	rs778593686	missense variant	-	NC_000007.14:g.16462805A>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Ser124Asn	rs1336412693	missense variant	-	NC_000007.14:g.16462798C>T	TOPMed
SOSTDC1	Q6X4U4	p.Arg126Trp	rs1444384064	missense variant	-	NC_000007.14:g.16462793T>A	TOPMed
SOSTDC1	Q6X4U4	p.Gln129Ter	rs1334854475	stop gained	-	NC_000007.14:g.16462784G>A	gnomAD
SOSTDC1	Q6X4U4	p.Gln129Leu	rs200731488	missense variant	-	NC_000007.14:g.16462783T>A	1000Genomes,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg132Gln	rs1354710489	missense variant	-	NC_000007.14:g.16462774C>T	gnomAD
SOSTDC1	Q6X4U4	p.Cys133Gly	rs766402142	missense variant	-	NC_000007.14:g.16462772A>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Cys133Tyr	rs760672874	missense variant	-	NC_000007.14:g.16462771C>T	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Asn135Ser	rs143801072	missense variant	-	NC_000007.14:g.16462765T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Asp136Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.16462763C>A	NCI-TCGA
SOSTDC1	Q6X4U4	p.Lys137Glu	rs761591569	missense variant	-	NC_000007.14:g.16462760T>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Thr138Ala	rs1404109418	missense variant	-	NC_000007.14:g.16462757T>C	gnomAD
SOSTDC1	Q6X4U4	p.Arg139Cys	rs370368434	missense variant	-	NC_000007.14:g.16462754G>A	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg139Gly	rs370368434	missense variant	-	NC_000007.14:g.16462754G>C	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg139His	rs367980297	missense variant	-	NC_000007.14:g.16462753C>T	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg139His	rs367980297	missense variant	-	NC_000007.14:g.16462753C>T	NCI-TCGA,NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Gln144His	rs770345144	missense variant	-	NC_000007.14:g.16462737C>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Gln146Ter	rs1186357286	stop gained	-	NC_000007.14:g.16462733G>A	gnomAD
SOSTDC1	Q6X4U4	p.Gln146His	rs147807617	missense variant	-	NC_000007.14:g.16462731C>G	ESP,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Thr152Ala	rs964211812	missense variant	-	NC_000007.14:g.16462715T>C	TOPMed
SOSTDC1	Q6X4U4	p.Arg153His	rs770948074	missense variant	-	NC_000007.14:g.16462711C>T	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg153His	rs770948074	missense variant	-	NC_000007.14:g.16462711C>T	NCI-TCGA,NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Thr154Ile	rs758542305	missense variant	-	NC_000007.14:g.16462708G>A	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Cys163Trp	rs751003943	missense variant	-	NC_000007.14:g.16462680G>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Cys165Ter	rs1477196083	stop gained	-	NC_000007.14:g.16462674G>T	TOPMed
SOSTDC1	Q6X4U4	p.Cys165Tyr	COSM1673033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.16462675C>T	NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Lys166Arg	rs763875527	missense variant	-	NC_000007.14:g.16462672T>C	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Tyr168Ter	rs1168934593	stop gained	-	NC_000007.14:g.16462665G>C	TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Tyr168Cys	rs1397429710	missense variant	-	NC_000007.14:g.16462666T>C	TOPMed
SOSTDC1	Q6X4U4	p.Arg170Trp	rs780185207	missense variant	-	NC_000007.14:g.16462661G>A	gnomAD
SOSTDC1	Q6X4U4	p.Arg170Trp	rs780185207	missense variant	-	NC_000007.14:g.16462661G>A	NCI-TCGA,NCI-TCGA Cosmic
SOSTDC1	Q6X4U4	p.Gln171Lys	rs1371917149	missense variant	-	NC_000007.14:g.16462658G>T	gnomAD
SOSTDC1	Q6X4U4	p.Glu174Lys	rs775938004	missense variant	-	NC_000007.14:g.16462649C>T	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Glu174Gln	rs775938004	missense variant	-	NC_000007.14:g.16462649C>G	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.His177Arg	rs191562421	missense variant	-	NC_000007.14:g.16462639T>C	1000Genomes,ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Phe179Ile	rs1467585700	missense variant	-	NC_000007.14:g.16462634A>T	gnomAD
SOSTDC1	Q6X4U4	p.Met182Ile	rs1197098186	missense variant	-	NC_000007.14:g.16462623C>T	gnomAD
SOSTDC1	Q6X4U4	p.Met182Thr	rs777170221	missense variant	-	NC_000007.14:g.16462624A>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Ser183Leu	rs1250735770	missense variant	-	NC_000007.14:g.16462621G>A	gnomAD
SOSTDC1	Q6X4U4	p.Ser183Pro	rs771393793	missense variant	-	NC_000007.14:g.16462622A>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Pro184Ser	rs772349299	missense variant	-	NC_000007.14:g.16462619G>A	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Pro184Ala	rs772349299	missense variant	-	NC_000007.14:g.16462619G>C	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Ala185Thr	rs755926595	missense variant	-	NC_000007.14:g.16462616C>T	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Ala185Asp	rs745639845	missense variant	-	NC_000007.14:g.16462615G>T	ExAC
SOSTDC1	Q6X4U4	p.Ala185Pro	rs755926595	missense variant	-	NC_000007.14:g.16462616C>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Lys186Glu	rs757257766	missense variant	-	NC_000007.14:g.16462613T>C	ExAC
SOSTDC1	Q6X4U4	p.Lys186Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.16462612T>C	NCI-TCGA
SOSTDC1	Q6X4U4	p.Pro187Thr	rs1340982183	missense variant	-	NC_000007.14:g.16462610G>T	TOPMed
SOSTDC1	Q6X4U4	p.Val188Ala	rs751139001	missense variant	-	NC_000007.14:g.16462606A>G	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Gln189His	rs34016012	missense variant	-	NC_000007.14:g.16462602C>A	-
SOSTDC1	Q6X4U4	p.Gln189His	rs34016012	missense variant	-	NC_000007.14:g.16462602C>A	UniProt,dbSNP
SOSTDC1	Q6X4U4	p.Gln189His	VAR_053682	missense variant	-	NC_000007.14:g.16462602C>A	UniProt
SOSTDC1	Q6X4U4	p.Gln189Arg	rs758100602	missense variant	-	NC_000007.14:g.16462603T>C	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Gln189Ter	rs763456089	stop gained	-	NC_000007.14:g.16462604G>A	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Glu193Asp	rs752242189	missense variant	-	NC_000007.14:g.16462590C>G	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Arg194Gln	rs200096459	missense variant	-	NC_000007.14:g.16462588C>T	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Arg194Trp	rs764846211	missense variant	-	NC_000007.14:g.16462589G>A	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Ala197Pro	rs776972144	missense variant	-	NC_000007.14:g.16462580C>G	ExAC
SOSTDC1	Q6X4U4	p.Ser198Arg	rs1001322708	missense variant	-	NC_000007.14:g.16462575G>T	TOPMed
SOSTDC1	Q6X4U4	p.Ser201Asn	rs1477484907	missense variant	-	NC_000007.14:g.16462567C>T	gnomAD
SOSTDC1	Q6X4U4	p.Ser201Arg	rs761024864	missense variant	-	NC_000007.14:g.16462566G>T	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.His203Tyr	rs1183313450	missense variant	-	NC_000007.14:g.16462562G>A	gnomAD
SOSTDC1	Q6X4U4	p.His203Arg	rs773342048	missense variant	-	NC_000007.14:g.16462561T>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Ser204Gly	rs772009447	missense variant	-	NC_000007.14:g.16462559T>C	ExAC,TOPMed,gnomAD
SOSTDC1	Q6X4U4	p.Met205Val	rs748429347	missense variant	-	NC_000007.14:g.16462556T>C	ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Ser206Ile	rs375408895	missense variant	-	NC_000007.14:g.16462552C>A	ESP,ExAC,gnomAD
SOSTDC1	Q6X4U4	p.Ter207Tyr	rs535137743	stop lost	-	NC_000007.14:g.16462548C>G	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro5Leu	rs758563267	missense variant	-	NC_000014.9:g.95475808G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro5Leu	rs758563267	missense variant	-	NC_000014.9:g.95475808G>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Gln6His	rs144300694	missense variant	-	NC_000014.9:g.95475804C>G	ESP,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp7Glu	rs372442807	missense variant	-	NC_000014.9:g.95475801G>T	ESP,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp8Asn	rs796225617	missense variant	-	NC_000014.9:g.95475800C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp10His	rs754184454	missense variant	-	NC_000014.9:g.95475794C>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ser12Ile	rs766885763	missense variant	-	NC_000014.9:g.95475787C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ser12Gly	rs954926152	missense variant	-	NC_000014.9:g.95475788T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser12Arg	rs144095171	missense variant	-	NC_000014.9:g.95475786G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val13Met	rs549347311	missense variant	-	NC_000014.9:g.95475785C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp15Gly	rs1161230550	missense variant	-	NC_000014.9:g.95475778T>C	gnomAD
SYNE3	Q6ZMZ3	p.Ala16Val	rs200309130	missense variant	-	NC_000014.9:g.95475775G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln17Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95475772T>G	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala18Thr	rs530594286	missense variant	-	NC_000014.9:g.95475770C>T	1000Genomes
SYNE3	Q6ZMZ3	p.Trp19Arg	rs993631512	missense variant	-	NC_000014.9:g.95475767A>G	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Lys21Met	rs1449567116	missense variant	-	NC_000014.9:g.95475760T>A	TOPMed
SYNE3	Q6ZMZ3	p.Lys21Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95475759C>G	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala22Pro	rs761451124	missense variant	-	NC_000014.9:g.95475758C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln24Lys	rs1450310209	missense variant	-	NC_000014.9:g.95475752G>T	gnomAD
SYNE3	Q6ZMZ3	p.Asp25Gly	rs563262041	missense variant	-	NC_000014.9:g.95475748T>C	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln28Arg	rs768401669	missense variant	-	NC_000014.9:g.95475739T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val29Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95475737C>G	NCI-TCGA
SYNE3	Q6ZMZ3	p.Asn30Thr	rs77114672	missense variant	-	NC_000014.9:g.95475733T>G	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asn30Ser	rs77114672	missense variant	-	NC_000014.9:g.95475733T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp31Asn	rs762535247	missense variant	-	NC_000014.9:g.95475731C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr33Met	rs3952862	missense variant	-	NC_000014.9:g.95475724G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln34Arg	rs370244222	missense variant	-	NC_000014.9:g.95475721T>C	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro36His	rs1436646599	missense variant	-	NC_000014.9:g.95475715G>T	gnomAD
SYNE3	Q6ZMZ3	p.Pro36Ser	rs748312825	missense variant	-	NC_000014.9:g.95475716G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro36Thr	rs748312825	missense variant	-	NC_000014.9:g.95475716G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg37His	rs776974057	missense variant	-	NC_000014.9:g.95475712C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg37Cys	rs141800370	missense variant	-	NC_000014.9:g.95475713G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg37Leu	rs776974057	missense variant	-	NC_000014.9:g.95475712C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala38Val	rs377599534	missense variant	-	NC_000014.9:g.95475709G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala38Gly	rs377599534	missense variant	-	NC_000014.9:g.95475709G>C	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala38Ser	rs756600087	missense variant	-	NC_000014.9:g.95475710C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala38Thr	rs756600087	missense variant	-	NC_000014.9:g.95475710C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala38Thr	rs756600087	missense variant	-	NC_000014.9:g.95475710C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala39Val	rs756698494	missense variant	-	NC_000014.9:g.95475706G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu40Pro	rs1479084232	missense variant	-	NC_000014.9:g.95475703A>G	gnomAD
SYNE3	Q6ZMZ3	p.Ala42Thr	rs1245147199	missense variant	-	NC_000014.9:g.95475698C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala42Ser	rs1245147199	missense variant	-	NC_000014.9:g.95475698C>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp45Cys	rs775182717	missense variant	-	NC_000014.9:g.95475687C>A	ExAC
SYNE3	Q6ZMZ3	p.Trp45Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95475687C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Glu48Lys	rs776529744	missense variant	-	NC_000014.9:g.95475680C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile50Thr	rs1414378634	missense variant	-	NC_000014.9:g.95467963A>G	gnomAD
SYNE3	Q6ZMZ3	p.Cys51Arg	rs760607047	missense variant	-	NC_000014.9:g.95467961A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Cys51Phe	rs1354275623	missense variant	-	NC_000014.9:g.95467960C>A	TOPMed
SYNE3	Q6ZMZ3	p.Gln52Leu	rs1418813035	missense variant	-	NC_000014.9:g.95467957T>A	gnomAD
SYNE3	Q6ZMZ3	p.Gln52Ter	COSM1147444	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95467958G>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu54Lys	rs891802744	missense variant	-	NC_000014.9:g.95467952C>T	TOPMed
SYNE3	Q6ZMZ3	p.Pro55Ser	rs150277330	missense variant	-	NC_000014.9:g.95467949G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu56Lys	rs376779070	missense variant	-	NC_000014.9:g.95467946C>T	ESP,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly57Glu	rs1183232303	missense variant	-	NC_000014.9:g.95467942C>T	gnomAD
SYNE3	Q6ZMZ3	p.Arg58His	rs373561836	missense variant	-	NC_000014.9:g.95467939C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg58Cys	rs555914853	missense variant	-	NC_000014.9:g.95467940G>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg60Thr	rs770091322	missense variant	-	NC_000014.9:g.95467933C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg60Lys	rs770091322	missense variant	-	NC_000014.9:g.95467933C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val61Leu	rs140918242	missense variant	-	NC_000014.9:g.95467931C>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val61Ala	rs1236474905	missense variant	-	NC_000014.9:g.95467930A>G	gnomAD
SYNE3	Q6ZMZ3	p.Val61Met	rs140918242	missense variant	-	NC_000014.9:g.95467931C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp62Glu	rs771212605	missense variant	-	NC_000014.9:g.95467926G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val64Met	rs757884469	missense variant	-	NC_000014.9:g.95467922C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg66Gln	rs754560731	missense variant	-	NC_000014.9:g.95467915C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg66Trp	rs148002580	missense variant	-	NC_000014.9:g.95467916G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Met67Ile	rs760769434	missense variant	-	NC_000014.9:g.95467911C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala70Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95467903G>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu71Phe	rs1453281964	missense variant	-	NC_000014.9:g.95467901G>A	gnomAD
SYNE3	Q6ZMZ3	p.Cys75Tyr	rs1167103290	missense variant	-	NC_000014.9:g.95467888C>T	TOPMed
SYNE3	Q6ZMZ3	p.Cys75Ter	rs760450784	stop gained	-	NC_000014.9:g.95467887G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro76Thr	rs1422502689	missense variant	-	NC_000014.9:g.95467886G>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro76Ser	rs1422502689	missense variant	-	NC_000014.9:g.95467886G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly77Trp	rs750340746	missense variant	-	NC_000014.9:g.95467883C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp78Asn	rs1189785543	missense variant	-	NC_000014.9:g.95467880C>T	gnomAD
SYNE3	Q6ZMZ3	p.Gln79Lys	rs767609293	missense variant	-	NC_000014.9:g.95467877G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro81Leu	rs1202905961	missense variant	-	NC_000014.9:g.95467870G>A	gnomAD
SYNE3	Q6ZMZ3	p.Gly82Arg	rs146970314	missense variant	-	NC_000014.9:g.95467868C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala85Thr	rs369931009	missense variant	-	NC_000014.9:g.95467859C>T	ESP,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala85Val	rs773420568	missense variant	-	NC_000014.9:g.95467858G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg86Trp	rs759774092	missense variant	-	NC_000014.9:g.95467856G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg86Gln	rs201418759	missense variant	-	NC_000014.9:g.95467855C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg86Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95467855C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu87Ter	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95467854C>-	NCI-TCGA
SYNE3	Q6ZMZ3	p.Asp89Asn	rs552352255	missense variant	-	NC_000014.9:g.95467847C>T	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala92Ser	rs35481769	missense variant	-	NC_000014.9:g.95467838C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala92Thr	rs35481769	missense variant	-	NC_000014.9:g.95467838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp94Leu	rs1252192857	missense variant	-	NC_000014.9:g.95467831C>A	TOPMed
SYNE3	Q6ZMZ3	p.Trp94Ter	COSM4540361	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95467830C>T	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Thr97Ala	rs754544381	missense variant	-	NC_000014.9:g.95467823T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr99Ile	rs1432147841	missense variant	-	NC_000014.9:g.95467816G>A	gnomAD
SYNE3	Q6ZMZ3	p.Tyr100Ter	rs755913015	stop gained	-	NC_000014.9:g.95467812G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Met101Val	rs1427417071	missense variant	-	NC_000014.9:g.95467811T>C	gnomAD
SYNE3	Q6ZMZ3	p.Thr102Pro	rs1267541621	missense variant	-	NC_000014.9:g.95467808T>G	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr102Ile	rs1192592069	missense variant	-	NC_000014.9:g.95467807G>A	gnomAD
SYNE3	Q6ZMZ3	p.Cys104Ter	rs767449941	stop gained	-	NC_000014.9:g.95467800A>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Cys104Tyr	rs750134563	missense variant	-	NC_000014.9:g.95467801C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Cys104Arg	rs1489778153	missense variant	-	NC_000014.9:g.95467802A>G	gnomAD
SYNE3	Q6ZMZ3	p.Arg107Cys	rs774814848	missense variant	-	NC_000014.9:g.95466239G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg107His	rs749830184	missense variant	-	NC_000014.9:g.95466238C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg107Ser	rs774814848	missense variant	-	NC_000014.9:g.95466239G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg107Gly	COSM3499526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95466239G>C	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Arg107Leu	rs749830184	missense variant	-	NC_000014.9:g.95466238C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu109Lys	rs774793672	missense variant	-	NC_000014.9:g.95466233C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp110Ter	rs1380992719	stop gained	-	NC_000014.9:g.95466228C>T	TOPMed
SYNE3	Q6ZMZ3	p.Val111Met	rs1348862925	missense variant	-	NC_000014.9:g.95466227C>T	gnomAD
SYNE3	Q6ZMZ3	p.Leu113Pro	rs563053678	missense variant	-	NC_000014.9:g.95466220A>G	1000Genomes
SYNE3	Q6ZMZ3	p.His114Asp	rs1342778163	missense variant	-	NC_000014.9:g.95466218G>C	gnomAD
SYNE3	Q6ZMZ3	p.Ser116Arg	rs781057914	missense variant	-	NC_000014.9:g.95466210G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser116Asn	rs967775438	missense variant	-	NC_000014.9:g.95466211C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu117Lys	rs746752810	missense variant	-	NC_000014.9:g.95466209C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu117Ter	rs746752810	stop gained	-	NC_000014.9:g.95466209C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Tyr118Ter	rs1320760483	stop gained	-	NC_000014.9:g.95466204G>C	gnomAD
SYNE3	Q6ZMZ3	p.Leu119Pro	rs777743531	missense variant	-	NC_000014.9:g.95466202A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu119Met	rs1021853327	missense variant	-	NC_000014.9:g.95466203G>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg122Gln	rs766359822	missense variant	-	NC_000014.9:g.95466193C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg122Gly	rs201998458	missense variant	-	NC_000014.9:g.95466194G>C	ExAC,TOPMed
SYNE3	Q6ZMZ3	p.Arg122Ter	rs201998458	stop gained	-	NC_000014.9:g.95466194G>A	ExAC,TOPMed
SYNE3	Q6ZMZ3	p.Arg122GlyGluVal	NCI-TCGA novel	insertion	-	NC_000014.9:g.95466192_95466193insACCTCCCCA	NCI-TCGA
SYNE3	Q6ZMZ3	p.Asp123Gly	rs750617123	missense variant	-	NC_000014.9:g.95466190T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu124Gly	rs1386953659	missense variant	-	NC_000014.9:g.95466187T>C	gnomAD
SYNE3	Q6ZMZ3	p.Phe125Ser	rs1444046025	missense variant	-	NC_000014.9:g.95466184A>G	gnomAD
SYNE3	Q6ZMZ3	p.Tyr126Cys	rs1204641550	missense variant	-	NC_000014.9:g.95466181T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg127Leu	rs138444931	missense variant	-	NC_000014.9:g.95466178C>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg127Cys	rs767772253	missense variant	-	NC_000014.9:g.95466179G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg127His	rs138444931	missense variant	-	NC_000014.9:g.95466178C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Phe129Leu	rs763309004	missense variant	-	NC_000014.9:g.95466171G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Phe129Leu	rs1283909058	missense variant	-	NC_000014.9:g.95466173A>G	gnomAD
SYNE3	Q6ZMZ3	p.Met132Ile	rs1245924509	missense variant	-	NC_000014.9:g.95466162C>G	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Met132Thr	rs776122096	missense variant	-	NC_000014.9:g.95466163A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Met132Val	rs1362051824	missense variant	-	NC_000014.9:g.95466164T>C	gnomAD
SYNE3	Q6ZMZ3	p.Met133Val	rs1489077863	missense variant	-	NC_000014.9:g.95466161T>C	TOPMed
SYNE3	Q6ZMZ3	p.Val134Gly	rs769182774	missense variant	-	NC_000014.9:g.95466157A>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr135Ile	rs750634754	missense variant	-	NC_000014.9:g.95466154G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro138Leu	rs551210062	missense variant	-	NC_000014.9:g.95466145G>A	1000Genomes
SYNE3	Q6ZMZ3	p.Pro138Ser	rs776303712	missense variant	-	NC_000014.9:g.95466146G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.His139Arg	rs1008420107	missense variant	-	NC_000014.9:g.95466142T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile140Met	rs532215612	missense variant	-	NC_000014.9:g.95466138G>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile140Asn	rs1367247171	missense variant	-	NC_000014.9:g.95466139A>T	gnomAD
SYNE3	Q6ZMZ3	p.Ile140Val	rs770669593	missense variant	-	NC_000014.9:g.95466140T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu141Lys	rs1322613166	missense variant	-	NC_000014.9:g.95466137C>T	gnomAD
SYNE3	Q6ZMZ3	p.Glu141Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95466135C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Gly145Asp	rs149000067	missense variant	-	NC_000014.9:g.95466124C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp151Gly	rs1390771335	missense variant	-	NC_000014.9:g.95466107A>C	gnomAD
SYNE3	Q6ZMZ3	p.Gln152Leu	rs1316950085	missense variant	-	NC_000014.9:g.95466103T>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln152Ter	rs200390743	stop gained	-	NC_000014.9:g.95466104G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu153Arg	rs1474470000	missense variant	-	NC_000014.9:g.95466100A>C	gnomAD
SYNE3	Q6ZMZ3	p.Leu153Pro	rs1474470000	missense variant	-	NC_000014.9:g.95466100A>G	gnomAD
SYNE3	Q6ZMZ3	p.His155Tyr	rs1199875697	missense variant	-	NC_000014.9:g.95466095G>A	gnomAD
SYNE3	Q6ZMZ3	p.Ala156Thr	rs756120772	missense variant	-	NC_000014.9:g.95466092C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln157Leu	rs540187127	missense variant	-	NC_000014.9:g.95466088T>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln157Arg	rs540187127	missense variant	-	NC_000014.9:g.95466088T>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln157His	rs781278523	missense variant	-	NC_000014.9:g.95466087C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val158Met	rs967201260	missense variant	-	NC_000014.9:g.95466086C>T	gnomAD
SYNE3	Q6ZMZ3	p.Val158Ala	rs1215759390	missense variant	-	NC_000014.9:g.95466085A>G	gnomAD
SYNE3	Q6ZMZ3	p.Leu159Met	rs1269185971	missense variant	-	NC_000014.9:g.95466083G>T	gnomAD
SYNE3	Q6ZMZ3	p.His161Tyr	rs916527196	missense variant	-	NC_000014.9:g.95466077G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.His161Arg	rs1347062043	missense variant	-	NC_000014.9:g.95466076T>C	gnomAD
SYNE3	Q6ZMZ3	p.Asn162Lys	rs751791161	missense variant	-	NC_000014.9:g.95466072G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val163Met	rs528067092	missense variant	-	NC_000014.9:g.95466071C>T	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp164Gly	rs367890381	missense variant	-	NC_000014.9:g.95466067T>C	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln166Glu	rs753113013	missense variant	-	NC_000014.9:g.95466062G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln166Lys	rs753113013	missense variant	-	NC_000014.9:g.95466062G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala167Glu	rs374330729	missense variant	-	NC_000014.9:g.95466058G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala167Val	rs374330729	missense variant	-	NC_000014.9:g.95466058G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu169Phe	rs368622752	missense variant	-	NC_000014.9:g.95466053G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg172Gln	rs372316132	missense variant	-	NC_000014.9:g.95466043C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg172Trp	rs376081330	missense variant	-	NC_000014.9:g.95466044G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg172Pro	rs372316132	missense variant	-	NC_000014.9:g.95466043C>G	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu174Val	rs1271657352	missense variant	-	NC_000014.9:g.95466038G>C	gnomAD
SYNE3	Q6ZMZ3	p.Glu175Lys	rs542535872	missense variant	-	NC_000014.9:g.95466035C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu175Gln	COSM4852153	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95466035C>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu175AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95466033_95466034insCCACTAAA	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala177Glu	rs751724689	missense variant	-	NC_000014.9:g.95466028G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asn182Asp	rs764733835	missense variant	-	NC_000014.9:g.95466014T>C	TOPMed
SYNE3	Q6ZMZ3	p.Asn182Thr	rs1407234797	missense variant	-	NC_000014.9:g.95466013T>G	TOPMed
SYNE3	Q6ZMZ3	p.Gly185Val	rs755486551	missense variant	-	NC_000014.9:g.95466004C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly185Trp	rs753066371	missense variant	-	NC_000014.9:g.95466005C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly185Ala	rs755486551	missense variant	-	NC_000014.9:g.95466004C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly185Arg	rs753066371	missense variant	-	NC_000014.9:g.95466005C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser188Arg	rs760298891	missense variant	-	NC_000014.9:g.95465994G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Val189Met	rs201214269	missense variant	-	NC_000014.9:g.95465993C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val189Ala	rs556704828	missense variant	-	NC_000014.9:g.95465992A>G	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Val189Gly	rs556704828	missense variant	-	NC_000014.9:g.95465992A>C	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu191Gly	rs749211983	missense variant	-	NC_000014.9:g.95465986T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu191Lys	rs768455712	missense variant	-	NC_000014.9:g.95465987C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp192His	COSM2254030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95465984C>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Ala193Thr	rs1314020495	missense variant	-	NC_000014.9:g.95465981C>T	TOPMed
SYNE3	Q6ZMZ3	p.Gln194Ter	COSM1147438	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95465978G>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Lys195Glu	rs775473860	missense variant	-	NC_000014.9:g.95465975T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg196Ile	rs770968513	missense variant	-	NC_000014.9:g.95465971C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu200Ala	rs1356633456	missense variant	-	NC_000014.9:g.95465959T>G	TOPMed
SYNE3	Q6ZMZ3	p.Glu200Asp	rs199510666	missense variant	-	NC_000014.9:g.95465958C>G	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu200Ter	COSM6141725	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95465960C>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Tyr201Asp	rs777746430	missense variant	-	NC_000014.9:g.95465957A>C	ExAC,TOPMed
SYNE3	Q6ZMZ3	p.Tyr201Ter	COSM1371881	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95465955G>T	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Asp202Glu	rs140961870	missense variant	-	NC_000014.9:g.95465952A>C	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp202Asn	rs1317181535	missense variant	-	NC_000014.9:g.95465954C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala206Ser	rs779406180	missense variant	-	NC_000014.9:g.95465942C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala206Val	COSM3815615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95465941G>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Lys207Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95465937C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala208Thr	rs767038945	missense variant	-	NC_000014.9:g.95465936C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala208Ser	rs767038945	missense variant	-	NC_000014.9:g.95465936C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln209His	rs1412059153	missense variant	-	NC_000014.9:g.95465931C>G	gnomAD
SYNE3	Q6ZMZ3	p.Gln209Ter	rs1335123021	stop gained	-	NC_000014.9:g.95465933G>A	gnomAD
SYNE3	Q6ZMZ3	p.Lys210Ter	rs1358030977	stop gained	-	NC_000014.9:g.95457338T>A	gnomAD
SYNE3	Q6ZMZ3	p.Arg211His	rs763785289	missense variant	-	NC_000014.9:g.95457334C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg211Cys	rs751183434	missense variant	-	NC_000014.9:g.95457335G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val212Ile	rs1184442564	missense variant	-	NC_000014.9:g.95457332C>T	gnomAD
SYNE3	Q6ZMZ3	p.Asp213Asn	rs752422811	missense variant	-	NC_000014.9:g.95457329C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu214Met	rs765029245	missense variant	-	NC_000014.9:g.95457326G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu215Pro	rs1290955170	missense variant	-	NC_000014.9:g.95457322A>G	gnomAD
SYNE3	Q6ZMZ3	p.Glu216Gln	rs1279290612	missense variant	-	NC_000014.9:g.95457320C>G	TOPMed
SYNE3	Q6ZMZ3	p.Glu216Lys	rs1279290612	missense variant	-	NC_000014.9:g.95457320C>T	TOPMed
SYNE3	Q6ZMZ3	p.Val218Met	rs201192700	missense variant	-	NC_000014.9:g.95457314C>T	1000Genomes
SYNE3	Q6ZMZ3	p.Ala219Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95457311C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg220Gly	rs187376318	missense variant	-	NC_000014.9:g.95457308G>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg220Gln	rs74082143	missense variant	-	NC_000014.9:g.95457307C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg220Trp	rs187376318	missense variant	-	NC_000014.9:g.95457308G>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu221Ter	rs1346437229	stop gained	-	NC_000014.9:g.95457305C>A	gnomAD
SYNE3	Q6ZMZ3	p.Glu221Asp	rs1305322109	missense variant	-	NC_000014.9:g.95457303C>A	gnomAD
SYNE3	Q6ZMZ3	p.Glu221Lys	COSM3499520	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95457305C>T	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.His222Tyr	rs547667137	missense variant	-	NC_000014.9:g.95457302G>A	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.del223TerLysUnk	rs1365425215	stop gained	-	NC_000014.9:g.95457299_95457300insTTTTTTA	gnomAD
SYNE3	Q6ZMZ3	p.Glu223Gly	rs1169025625	missense variant	-	NC_000014.9:g.95457298T>C	gnomAD
SYNE3	Q6ZMZ3	p.Glu223Lys	rs1312284105	missense variant	-	NC_000014.9:g.95457299C>T	TOPMed
SYNE3	Q6ZMZ3	p.Glu223Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95457297C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Glu224Lys	rs1462018451	missense variant	-	NC_000014.9:g.95457296C>T	gnomAD
SYNE3	Q6ZMZ3	p.Tyr225Cys	rs1487783424	missense variant	-	NC_000014.9:g.95457292T>C	TOPMed
SYNE3	Q6ZMZ3	p.Tyr225His	rs1283420867	missense variant	-	NC_000014.9:g.95457293A>G	TOPMed
SYNE3	Q6ZMZ3	p.Gln226Glu	rs1477284050	missense variant	-	NC_000014.9:g.95457290G>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln226His	rs199883369	missense variant	-	NC_000014.9:g.95457288C>G	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly228Asp	rs1489801819	missense variant	-	NC_000014.9:g.95457283C>T	gnomAD
SYNE3	Q6ZMZ3	p.Gly228Cys	rs749529804	missense variant	-	NC_000014.9:g.95457284C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gly228Ser	rs749529804	missense variant	-	NC_000014.9:g.95457284C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Val229Glu	rs1476971835	missense variant	-	NC_000014.9:g.95457280A>T	TOPMed
SYNE3	Q6ZMZ3	p.Glu231Lys	rs770117088	missense variant	-	NC_000014.9:g.95457275C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu231Gln	rs770117088	missense variant	-	NC_000014.9:g.95457275C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln233His	rs781591151	missense variant	-	NC_000014.9:g.95457267T>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln233Ter	rs1481599193	stop gained	-	NC_000014.9:g.95457269G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp235Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95457261C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala238Glu	rs201962564	missense variant	-	NC_000014.9:g.95457253G>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala238Val	rs201962564	missense variant	-	NC_000014.9:g.95457253G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val240Ala	rs752402746	missense variant	-	NC_000014.9:g.95457247A>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu241Val	rs765075179	missense variant	-	NC_000014.9:g.95457244T>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Val243Ala	rs753788900	missense variant	-	NC_000014.9:g.95457238A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gly245Val	rs768874517	missense variant	-	NC_000014.9:g.95457232C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly245Ser	rs561918088	missense variant	-	NC_000014.9:g.95457233C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly245Cys	rs561918088	missense variant	-	NC_000014.9:g.95457233C>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu247Pro	rs925600001	missense variant	-	NC_000014.9:g.95457226A>G	TOPMed
SYNE3	Q6ZMZ3	p.Leu247Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95457227G>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Gly248Arg	rs1479309890	missense variant	-	NC_000014.9:g.95457224C>T	gnomAD
SYNE3	Q6ZMZ3	p.Gly248Trp	COSM1587710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95457224C>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Arg249Trp	rs775923128	missense variant	-	NC_000014.9:g.95457221G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg249Pro	rs202183573	missense variant	-	NC_000014.9:g.95457220C>G	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg249Gln	rs202183573	missense variant	-	NC_000014.9:g.95457220C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asn250Asp	rs746268195	missense variant	-	NC_000014.9:g.95457218T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asn250His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95457218T>G	NCI-TCGA
SYNE3	Q6ZMZ3	p.Asn250Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95457216G>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Cys251Tyr	rs781638173	missense variant	-	NC_000014.9:g.95457214C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Cys251Trp	rs576045838	missense variant	-	NC_000014.9:g.95457213G>C	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro254His	rs747528522	missense variant	-	NC_000014.9:g.95457205G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro254Arg	rs747528522	missense variant	-	NC_000014.9:g.95457205G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile255Asn	rs757968564	missense variant	-	NC_000014.9:g.95457202A>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr256Lys	rs182425490	missense variant	-	NC_000014.9:g.95457199G>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr256Met	rs182425490	missense variant	-	NC_000014.9:g.95457199G>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr256ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95457200T>-	NCI-TCGA
SYNE3	Q6ZMZ3	p.Gln257Arg	rs572049296	missense variant	-	NC_000014.9:g.95457196T>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln257Leu	rs572049296	missense variant	-	NC_000014.9:g.95457196T>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln257Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95457197G>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Gln257Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95457197G>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg258Cys	rs750448277	missense variant	-	NC_000014.9:g.95457194G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg258Ser	rs750448277	missense variant	-	NC_000014.9:g.95457194G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg258His	rs376547031	missense variant	-	NC_000014.9:g.95457193C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr261Arg	rs763168748	missense variant	-	NC_000014.9:g.95457184G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr261Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95457184G>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu262Arg	rs765330240	missense variant	-	NC_000014.9:g.95457181A>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln263Glu	rs759834620	missense variant	-	NC_000014.9:g.95457179G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp264Tyr	rs781166609	missense variant	-	NC_000014.9:g.95455724C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp264Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95455724C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ile265Val	rs757194288	missense variant	-	NC_000014.9:g.95455721T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala266Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95455717G>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Lys267Glu	rs373454109	missense variant	-	NC_000014.9:g.95455715T>C	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Lys267ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95455714_95455715insC	NCI-TCGA
SYNE3	Q6ZMZ3	p.Asp268Val	rs1156589343	missense variant	-	NC_000014.9:g.95455711T>A	gnomAD
SYNE3	Q6ZMZ3	p.Asp268Tyr	COSM256444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455712C>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Arg271Thr	rs778853677	missense variant	-	NC_000014.9:g.95455702C>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg271Ser	rs755123278	missense variant	-	NC_000014.9:g.95455701C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg271Ser	COSM6141731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455701C>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu273Lys	rs749983870	missense variant	-	NC_000014.9:g.95455697C>T	TOPMed
SYNE3	Q6ZMZ3	p.Thr278Ala	rs766536040	missense variant	-	NC_000014.9:g.95455682T>C	ExAC
SYNE3	Q6ZMZ3	p.Thr278Met	rs760915431	missense variant	-	NC_000014.9:g.95455681G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu281Gln	rs146716804	missense variant	-	NC_000014.9:g.95455673C>G	ESP,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu281Lys	rs146716804	missense variant	-	NC_000014.9:g.95455673C>T	ESP,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser283Cys	rs1479418046	missense variant	-	NC_000014.9:g.95455666G>C	TOPMed
SYNE3	Q6ZMZ3	p.Ser283Ala	rs568348358	missense variant	-	NC_000014.9:g.95455667A>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser283Pro	rs568348358	missense variant	-	NC_000014.9:g.95455667A>G	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala284Glu	rs143391386	missense variant	-	NC_000014.9:g.95455663G>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala284Val	rs143391386	missense variant	-	NC_000014.9:g.95455663G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly285Asp	rs1355096785	missense variant	-	NC_000014.9:g.95455660C>T	gnomAD
SYNE3	Q6ZMZ3	p.Gly285Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95455661C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Val286Ala	rs1264628616	missense variant	-	NC_000014.9:g.95455657A>G	gnomAD
SYNE3	Q6ZMZ3	p.Arg288Trp	rs775164044	missense variant	-	NC_000014.9:g.95455652G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg288Gln	rs148687059	missense variant	-	NC_000014.9:g.95455651C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asn289Ile	rs745521271	missense variant	-	NC_000014.9:g.95455648T>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asn289Lys	rs770915322	missense variant	-	NC_000014.9:g.95455647G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr290Pro	rs746889351	missense variant	-	NC_000014.9:g.95455646T>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu293Ser	COSM1587712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455636A>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Gly294Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95455634C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Glu296Lys	rs200001831	missense variant	-	NC_000014.9:g.95455628C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Lys297Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95455623C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Thr299Asn	rs780110039	missense variant	-	NC_000014.9:g.95455618G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr299Ile	rs780110039	missense variant	-	NC_000014.9:g.95455618G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gly300Arg	rs112493785	missense variant	-	NC_000014.9:g.95455616C>T	ESP,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly300Ala	COSM6076780	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455615C>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu301Asp	COSM1587714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455611T>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu304Lys	rs1281226273	missense variant	-	NC_000014.9:g.95455604C>T	gnomAD
SYNE3	Q6ZMZ3	p.Glu304Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95455604C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Met305Ile	COSM1134003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455599C>T	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Lys307Arg	rs945751243	missense variant	-	NC_000014.9:g.95455594T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu312Val	rs750698477	missense variant	-	NC_000014.9:g.95455580G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg313His	rs768762209	missense variant	-	NC_000014.9:g.95455576C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg313Cys	rs201816324	missense variant	-	NC_000014.9:g.95455577G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala314Thr	rs567096806	missense variant	-	NC_000014.9:g.95455574C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp316Ser	rs144177102	missense variant	-	NC_000014.9:g.95455567C>G	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp316Ter	rs144177102	stop gained	-	NC_000014.9:g.95455567C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu319Gln	rs982888279	missense variant	-	NC_000014.9:g.95455559C>G	TOPMed
SYNE3	Q6ZMZ3	p.Glu320Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95455554C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Glu321Val	rs1183726189	missense variant	-	NC_000014.9:g.95455552T>A	gnomAD
SYNE3	Q6ZMZ3	p.Arg322Gly	rs199497782	missense variant	-	NC_000014.9:g.95455550G>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg322Gln	rs149457472	missense variant	-	NC_000014.9:g.95455549C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg322Trp	rs199497782	missense variant	-	NC_000014.9:g.95455550G>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg324Gln	rs770607613	missense variant	-	NC_000014.9:g.95455543C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg324Trp	rs548289594	missense variant	-	NC_000014.9:g.95455544G>A	1000Genomes,ExAC
SYNE3	Q6ZMZ3	p.Gly325Asp	rs746767888	missense variant	-	NC_000014.9:g.95455540C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly325Ser	rs1317319510	missense variant	-	NC_000014.9:g.95455541C>T	gnomAD
SYNE3	Q6ZMZ3	p.Arg328Trp	rs145141808	missense variant	-	NC_000014.9:g.95455532G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg328Gln	rs746062749	missense variant	-	NC_000014.9:g.95455531C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg328Gly	rs145141808	missense variant	-	NC_000014.9:g.95455532G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser329Ala	rs781445069	missense variant	-	NC_000014.9:g.95455529A>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gly331Val	rs769427891	missense variant	-	NC_000014.9:g.95455522C>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly331Glu	COSM4390986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455522C>T	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Trp333Arg	rs764371956	missense variant	-	NC_000014.9:g.95455517A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Trp333Cys	rs758882606	missense variant	-	NC_000014.9:g.95455515C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu334Lys	rs1231630343	missense variant	-	NC_000014.9:g.95455514C>T	TOPMed
SYNE3	Q6ZMZ3	p.Gln335Glu	rs753314369	missense variant	-	NC_000014.9:g.95455511G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln335Arg	rs764808146	missense variant	-	NC_000014.9:g.95455510T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln336Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95455507T>G	NCI-TCGA
SYNE3	Q6ZMZ3	p.Gln339Ter	rs759165323	stop gained	-	NC_000014.9:g.95455499G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln339Leu	rs776301534	missense variant	-	NC_000014.9:g.95455498T>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser345Thr	rs766013746	missense variant	-	NC_000014.9:g.95455480C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu346Ter	rs147354890	stop gained	-	NC_000014.9:g.95455478C>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu346Asp	rs372531003	missense variant	-	NC_000014.9:g.95455476C>G	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg348Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95455472T>C	NCI-TCGA
SYNE3	Q6ZMZ3	p.Met349Ile	rs1035693664	missense variant	-	NC_000014.9:g.95455467C>T	TOPMed
SYNE3	Q6ZMZ3	p.Gln352His	rs771817288	missense variant	-	NC_000014.9:g.95455458C>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg353Lys	rs748070235	missense variant	-	NC_000014.9:g.95455456C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg353Thr	rs748070235	missense variant	-	NC_000014.9:g.95455456C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu354Pro	rs774316738	missense variant	-	NC_000014.9:g.95455453A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala355Gly	rs1248202437	missense variant	-	NC_000014.9:g.95455450G>C	gnomAD
SYNE3	Q6ZMZ3	p.Gln356Ter	rs1394780090	stop gained	-	NC_000014.9:g.95455448G>A	TOPMed
SYNE3	Q6ZMZ3	p.Glu357Lys	rs1320035369	missense variant	-	NC_000014.9:g.95455445C>T	gnomAD
SYNE3	Q6ZMZ3	p.Gly358Val	rs1435694026	missense variant	-	NC_000014.9:g.95455441C>A	TOPMed
SYNE3	Q6ZMZ3	p.Ala362Val	rs781163437	missense variant	-	NC_000014.9:g.95455429G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala362Glu	rs781163437	missense variant	-	NC_000014.9:g.95455429G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala363Thr	rs1366667162	missense variant	-	NC_000014.9:g.95455427C>T	gnomAD
SYNE3	Q6ZMZ3	p.Ala363Val	rs142727232	missense variant	-	NC_000014.9:g.95455426G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Lys364Glu	rs1366168226	missense variant	-	NC_000014.9:g.95455424T>C	gnomAD
SYNE3	Q6ZMZ3	p.Ala365Val	rs778187503	missense variant	-	NC_000014.9:g.95455420G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly366Glu	rs753232982	missense variant	-	NC_000014.9:g.95455417C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly366Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95455418C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Thr367Ser	rs947198642	missense variant	-	NC_000014.9:g.95455415T>A	TOPMed
SYNE3	Q6ZMZ3	p.Glu368Lys	rs753328598	missense variant	-	NC_000014.9:g.95455412C>T	ExAC,TOPMed
SYNE3	Q6ZMZ3	p.Asp369Glu	rs772803780	missense variant	-	NC_000014.9:g.95455407G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp369Ala	rs760359905	missense variant	-	NC_000014.9:g.95455408T>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp369His	rs200606884	missense variant	-	NC_000014.9:g.95455409C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu370Lys	rs375467304	missense variant	-	NC_000014.9:g.95455406C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val372Leu	rs774157635	missense variant	-	NC_000014.9:g.95455400C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val372Ala	rs565175736	missense variant	-	NC_000014.9:g.95455399A>G	1000Genomes
SYNE3	Q6ZMZ3	p.Val372Met	rs774157635	missense variant	-	NC_000014.9:g.95455400C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala373Thr	rs781208017	missense variant	-	NC_000014.9:g.95455397C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala373Glu	rs771184132	missense variant	-	NC_000014.9:g.95455396G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.His374Arg	rs770975616	missense variant	-	NC_000014.9:g.95455393T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg376Lys	rs747252583	missense variant	-	NC_000014.9:g.95455387C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg377His	rs772443180	missense variant	-	NC_000014.9:g.95455384C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg377Gly	rs74079986	missense variant	-	NC_000014.9:g.95455385G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg377Cys	rs74079986	missense variant	-	NC_000014.9:g.95455385G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Tyr378His	rs184991599	missense variant	-	NC_000014.9:g.95455382A>G	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser379Leu	rs141536238	missense variant	-	NC_000014.9:g.95455378G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala380Gly	rs1445405574	missense variant	-	NC_000014.9:g.95452382G>C	gnomAD
SYNE3	Q6ZMZ3	p.Ala380Thr	rs374749813	missense variant	-	NC_000014.9:g.95452383C>T	ESP,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg382Gln	rs148375938	missense variant	-	NC_000014.9:g.95452376C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg382Trp	rs749768826	missense variant	-	NC_000014.9:g.95452377G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala383Val	rs756668639	missense variant	-	NC_000014.9:g.95452373G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala384Val	rs780689307	missense variant	-	NC_000014.9:g.95452370G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala386Thr	rs751271248	missense variant	-	NC_000014.9:g.95452365C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser387Leu	rs370313899	missense variant	-	NC_000014.9:g.95452361G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser387Trp	rs370313899	missense variant	-	NC_000014.9:g.95452361G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu388Lys	rs752557620	missense variant	-	NC_000014.9:g.95452359C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu389Asp	rs765042354	missense variant	-	NC_000014.9:g.95452354C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu389Asp	rs765042354	missense variant	-	NC_000014.9:g.95452354C>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu389Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95452355T>C	NCI-TCGA
SYNE3	Q6ZMZ3	p.Pro390Arg	rs773107598	missense variant	-	NC_000014.9:g.95452352G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro390Thr	rs547728289	missense variant	-	NC_000014.9:g.95452353G>T	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro390His	rs773107598	missense variant	-	NC_000014.9:g.95452352G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg391Gln	rs774751400	missense variant	-	NC_000014.9:g.95452349C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg391Pro	rs774751400	missense variant	-	NC_000014.9:g.95452349C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg391Trp	rs143414368	missense variant	-	NC_000014.9:g.95452350G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg394Trp	rs149220293	missense variant	-	NC_000014.9:g.95452341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg394Gln	rs146532718	missense variant	-	NC_000014.9:g.95452340C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu395Pro	rs775956790	missense variant	-	NC_000014.9:g.95452337A>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu395AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95452338_95452339insC	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala397Thr	rs1242130977	missense variant	-	NC_000014.9:g.95452332C>T	gnomAD
SYNE3	Q6ZMZ3	p.Gln398Leu	rs1318721552	missense variant	-	NC_000014.9:g.95452328T>A	gnomAD
SYNE3	Q6ZMZ3	p.Gln398Arg	rs1318721552	missense variant	-	NC_000014.9:g.95452328T>C	gnomAD
SYNE3	Q6ZMZ3	p.Leu399Arg	rs1358492238	missense variant	-	NC_000014.9:g.95452325A>C	gnomAD
SYNE3	Q6ZMZ3	p.Leu399Met	rs770137327	missense variant	-	NC_000014.9:g.95452326G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu401Lys	rs746403956	missense variant	-	NC_000014.9:g.95452320C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Val404Ile	rs746635406	missense variant	-	NC_000014.9:g.95452311C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro406Leu	COSM1477883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95452304G>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Asn408Ser	rs531457245	missense variant	-	NC_000014.9:g.95452298T>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu409Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95452295A>G	NCI-TCGA
SYNE3	Q6ZMZ3	p.Pro411Thr	rs754857398	missense variant	-	NC_000014.9:g.95452290G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro411Ala	rs754857398	missense variant	-	NC_000014.9:g.95452290G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro411Leu	rs753889870	missense variant	-	NC_000014.9:g.95452289G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu412Pro	rs774597930	missense variant	-	NC_000014.9:g.95452286A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ser413Cys	rs764374573	missense variant	-	NC_000014.9:g.95452283G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser415Ile	rs763245795	missense variant	-	NC_000014.9:g.95452277C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser415Asn	rs763245795	missense variant	-	NC_000014.9:g.95452277C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile417Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95452272T>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala418Val	rs1319081356	missense variant	-	NC_000014.9:g.95452268G>A	TOPMed
SYNE3	Q6ZMZ3	p.Ala418Thr	rs554105607	missense variant	-	NC_000014.9:g.95452269C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile420Thr	rs777164252	missense variant	-	NC_000014.9:g.95452262A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ser425Asn	rs770406739	missense variant	-	NC_000014.9:g.95452247C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Lys429Asn	rs1172474753	missense variant	-	NC_000014.9:g.95450093C>G	gnomAD
SYNE3	Q6ZMZ3	p.Ala431Val	rs201173477	missense variant	-	NC_000014.9:g.95450088G>A	1000Genomes,gnomAD
SYNE3	Q6ZMZ3	p.Ala431Thr	rs753031485	missense variant	-	NC_000014.9:g.95450089C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg432Lys	rs1237205483	missense variant	-	NC_000014.9:g.95450085C>T	gnomAD
SYNE3	Q6ZMZ3	p.Arg434Cys	rs376232551	missense variant	-	NC_000014.9:g.95450080G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg434Ser	rs376232551	missense variant	-	NC_000014.9:g.95450080G>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg434His	rs183604014	missense variant	-	NC_000014.9:g.95450079C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asn435Ser	rs777004540	missense variant	-	NC_000014.9:g.95450076T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala436Thr	rs1444658977	missense variant	-	NC_000014.9:g.95450074C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala436Gly	rs1376361131	missense variant	-	NC_000014.9:g.95450073G>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala437Thr	rs1179127265	missense variant	-	NC_000014.9:g.95450071C>T	TOPMed
SYNE3	Q6ZMZ3	p.Ala437Val	rs771359113	missense variant	-	NC_000014.9:g.95450070G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala438Val	rs376830751	missense variant	-	NC_000014.9:g.95450067G>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val439Ala	rs1161138989	missense variant	-	NC_000014.9:g.95450064A>G	gnomAD
SYNE3	Q6ZMZ3	p.Glu440Gln	rs1159875923	missense variant	-	NC_000014.9:g.95450062C>G	gnomAD
SYNE3	Q6ZMZ3	p.Leu441Val	rs778673965	missense variant	-	NC_000014.9:g.95450059G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Trp442Arg	rs768213789	missense variant	-	NC_000014.9:g.95450056A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Trp442Ter	rs1349434523	stop gained	-	NC_000014.9:g.95450054C>T	TOPMed
SYNE3	Q6ZMZ3	p.Gln443His	rs749054497	missense variant	-	NC_000014.9:g.95450051C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln443His	rs749054497	missense variant	-	NC_000014.9:g.95450051C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln443Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95450053G>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.His444Tyr	rs780002803	missense variant	-	NC_000014.9:g.95450050G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.His444Asn	rs780002803	missense variant	-	NC_000014.9:g.95450050G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln446Arg	rs1209242072	missense variant	-	NC_000014.9:g.95450043T>C	gnomAD
SYNE3	Q6ZMZ3	p.Arg447Gln	rs756061434	missense variant	-	NC_000014.9:g.95450040C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg447Trp	rs1488537327	missense variant	-	NC_000014.9:g.95450041G>A	gnomAD
SYNE3	Q6ZMZ3	p.Pro448Leu	rs750448403	missense variant	-	NC_000014.9:g.95450037G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp451Tyr	rs1353037282	missense variant	-	NC_000014.9:g.95450029C>A	gnomAD
SYNE3	Q6ZMZ3	p.Gln453His	rs1366118657	missense variant	-	NC_000014.9:g.95450021C>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln453Pro	rs541692457	missense variant	-	NC_000014.9:g.95450022T>G	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp455Cys	rs1230228519	missense variant	-	NC_000014.9:g.95450015C>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Lys456Glu	rs544630388	missense variant	-	NC_000014.9:g.95450014T>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala457Val	rs1401009738	missense variant	-	NC_000014.9:g.95450010G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala457Thr	rs1283904428	missense variant	-	NC_000014.9:g.95450011C>T	gnomAD
SYNE3	Q6ZMZ3	p.Leu458Arg	rs913458748	missense variant	-	NC_000014.9:g.95450007A>C	TOPMed
SYNE3	Q6ZMZ3	p.Ala459Val	rs1419662487	missense variant	-	NC_000014.9:g.95450004G>A	gnomAD
SYNE3	Q6ZMZ3	p.Ala459Asp	rs1419662487	missense variant	-	NC_000014.9:g.95450004G>T	gnomAD
SYNE3	Q6ZMZ3	p.Arg461Trp	rs752841256	missense variant	-	NC_000014.9:g.95449999G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg461Gly	rs752841256	missense variant	-	NC_000014.9:g.95449999G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val465Ile	rs577341134	missense variant	-	NC_000014.9:g.95449987C>T	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr466Ile	rs1478038147	missense variant	-	NC_000014.9:g.95449983G>A	gnomAD
SYNE3	Q6ZMZ3	p.Ala467Val	rs1265196404	missense variant	-	NC_000014.9:g.95449980G>A	gnomAD
SYNE3	Q6ZMZ3	p.Ser468Asn	rs1214331592	missense variant	-	NC_000014.9:g.95449977C>T	gnomAD
SYNE3	Q6ZMZ3	p.Ser468Arg	rs754142966	missense variant	-	NC_000014.9:g.95449976G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ser468Cys	rs1167316095	missense variant	-	NC_000014.9:g.95449978T>A	TOPMed
SYNE3	Q6ZMZ3	p.Leu469Val	rs1018246622	missense variant	-	NC_000014.9:g.95449975G>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro470Arg	rs1026413781	missense variant	-	NC_000014.9:g.95449971G>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro470Ser	rs766787168	missense variant	-	NC_000014.9:g.95449972G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro470Leu	rs1026413781	missense variant	-	NC_000014.9:g.95449971G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp471Asn	rs151008252	missense variant	-	NC_000014.9:g.95449969C>T	ESP,gnomAD
SYNE3	Q6ZMZ3	p.Pro473Ser	rs1276749812	missense variant	-	NC_000014.9:g.95449963G>A	gnomAD
SYNE3	Q6ZMZ3	p.Thr477Asn	rs1368996058	missense variant	-	NC_000014.9:g.95449950G>T	gnomAD
SYNE3	Q6ZMZ3	p.Pro480Ser	rs773805661	missense variant	-	NC_000014.9:g.95449942G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile482Met	rs761334868	missense variant	-	NC_000014.9:g.95449934G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu483Gln	rs201231576	missense variant	-	NC_000014.9:g.95449933C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu483Lys	rs201231576	missense variant	-	NC_000014.9:g.95449933C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala484Gly	rs574563186	missense variant	-	NC_000014.9:g.95446090G>C	1000Genomes,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala484Thr	rs762234500	missense variant	-	NC_000014.9:g.95446091C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala484Val	rs574563186	missense variant	-	NC_000014.9:g.95446090G>A	1000Genomes,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Met487Ile	COSM4053316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95446080C>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu488Gly	rs1294132946	missense variant	-	NC_000014.9:g.95446078T>C	TOPMed
SYNE3	Q6ZMZ3	p.Glu488Asp	rs147345417	missense variant	-	NC_000014.9:g.95446077T>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu488Asp	rs147345417	missense variant	-	NC_000014.9:g.95446077T>G	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser490Pro	rs1378596907	missense variant	-	NC_000014.9:g.95446073A>G	gnomAD
SYNE3	Q6ZMZ3	p.Ser490Phe	rs1328915336	missense variant	-	NC_000014.9:g.95446072G>A	gnomAD
SYNE3	Q6ZMZ3	p.Ser490PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95446074_95446075insTGACCATTCTGCTTCAGTGTCCTCGTGTGTAAAA	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg491His	rs745629148	missense variant	-	NC_000014.9:g.95446069C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg491Leu	rs745629148	missense variant	-	NC_000014.9:g.95446069C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg491Cys	rs769690758	missense variant	-	NC_000014.9:g.95446070G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu492Val	rs776323574	missense variant	-	NC_000014.9:g.95446067G>C	ExAC
SYNE3	Q6ZMZ3	p.Leu495Val	rs770841219	missense variant	-	NC_000014.9:g.95446058G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr497Met	rs61749972	missense variant	-	NC_000014.9:g.95446051G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Met498Val	rs755090703	missense variant	-	NC_000014.9:g.95446049T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Met498Ile	rs1410167765	missense variant	-	NC_000014.9:g.95446047C>A	gnomAD
SYNE3	Q6ZMZ3	p.Gln500Ter	rs1180568323	stop gained	-	NC_000014.9:g.95446043G>A	TOPMed
SYNE3	Q6ZMZ3	p.Asp504Ala	rs1428934284	missense variant	-	NC_000014.9:g.95446030T>G	gnomAD
SYNE3	Q6ZMZ3	p.Asp504Tyr	rs756356344	missense variant	-	NC_000014.9:g.95446031C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu505Pro	rs767790091	missense variant	-	NC_000014.9:g.95446027A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu505Phe	rs199883379	missense variant	-	NC_000014.9:g.95446028G>A	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ile507Thr	rs757771903	missense variant	-	NC_000014.9:g.95446021A>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Phe510Ser	rs763671081	missense variant	-	NC_000014.9:g.95446012A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln512Glu	rs1387843337	missense variant	-	NC_000014.9:g.95446007G>C	TOPMed
SYNE3	Q6ZMZ3	p.Gln512His	rs369046578	missense variant	-	NC_000014.9:g.95446005C>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu513Asp	COSM1147434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95446002C>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu513Gln	COSM4851136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95446004C>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Arg514Lys	rs150102449	missense variant	-	NC_000014.9:g.95446000C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr516Met	rs764945000	missense variant	-	NC_000014.9:g.95445994G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr516Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95445995T>C	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala517Val	rs572397212	missense variant	-	NC_000014.9:g.95445991G>A	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu518Phe	rs921795608	missense variant	-	NC_000014.9:g.95445989G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu518Pro	rs770697351	missense variant	-	NC_000014.9:g.95445988A>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu519Arg	rs147178428	missense variant	-	NC_000014.9:g.95445985A>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val522Leu	rs1264394023	missense variant	-	NC_000014.9:g.95445977C>A	gnomAD
SYNE3	Q6ZMZ3	p.Ala523Val	rs1487625234	missense variant	-	NC_000014.9:g.95445973G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly524Asp	rs780109883	missense variant	-	NC_000014.9:g.95445970C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly524Val	rs780109883	missense variant	-	NC_000014.9:g.95445970C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly524Ser	rs1463492525	missense variant	-	NC_000014.9:g.95445971C>T	gnomAD
SYNE3	Q6ZMZ3	p.Met526Ile	rs1356544359	missense variant	-	NC_000014.9:g.95445963C>T	gnomAD
SYNE3	Q6ZMZ3	p.Asp528Tyr	rs770002936	missense variant	-	NC_000014.9:g.95445959C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg529Gly	rs1242290045	missense variant	-	NC_000014.9:g.95445956T>C	gnomAD
SYNE3	Q6ZMZ3	p.Arg529Thr	rs1208420618	missense variant	-	NC_000014.9:g.95445955C>G	TOPMed
SYNE3	Q6ZMZ3	p.Asp530Tyr	rs746137627	missense variant	-	NC_000014.9:g.95445953C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp530AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95445937_95445952CTGTTATGCAGCAGGT>-	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu531Gln	rs535784290	missense variant	-	NC_000014.9:g.95445949A>T	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.His533Tyr	rs778376216	missense variant	-	NC_000014.9:g.95445944G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.His533Arg	rs542482480	missense variant	-	NC_000014.9:g.95445943T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.His533Pro	rs542482480	missense variant	-	NC_000014.9:g.95445943T>G	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Lys540Asn	rs556818166	missense variant	-	NC_000014.9:g.95445921T>G	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser541Thr	rs1196372510	missense variant	-	NC_000014.9:g.95445919C>G	gnomAD
SYNE3	Q6ZMZ3	p.Lys542Thr	rs764896066	missense variant	-	NC_000014.9:g.95445916T>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln544Ter	rs1191788558	stop gained	-	NC_000014.9:g.95445911G>A	gnomAD
SYNE3	Q6ZMZ3	p.Ser545Gly	rs772601950	missense variant	-	NC_000014.9:g.95444628T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu547Val	rs748639681	missense variant	-	NC_000014.9:g.95444622G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala548Thr	rs200153210	missense variant	-	NC_000014.9:g.95444619C>T	1000Genomes,ESP,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala548Ser	rs200153210	missense variant	-	NC_000014.9:g.95444619C>A	1000Genomes,ESP,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln549Glu	rs748678129	missense variant	-	NC_000014.9:g.95444616G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp552Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95444607C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Gly554Ter	rs779628602	stop gained	-	NC_000014.9:g.95444601C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gly554Arg	rs779628602	missense variant	-	NC_000014.9:g.95444601C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala555Glu	rs565608397	missense variant	-	NC_000014.9:g.95444597G>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala555Val	rs565608397	missense variant	-	NC_000014.9:g.95444597G>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala556Gly	rs1426913866	missense variant	-	NC_000014.9:g.95444594G>C	TOPMed
SYNE3	Q6ZMZ3	p.Ala556Thr	rs1366483946	missense variant	-	NC_000014.9:g.95444595C>T	TOPMed
SYNE3	Q6ZMZ3	p.Pro559Thr	rs150245374	missense variant	-	NC_000014.9:g.95444586G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro559Ser	rs150245374	missense variant	-	NC_000014.9:g.95444586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro559His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95444585G>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu560Val	rs763902909	missense variant	-	NC_000014.9:g.95444583G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln561Ter	COSM1371866	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95444580G>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Gln561Leu	COSM6076783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95444579T>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Arg562Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95444575C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu567Arg	rs1285084487	missense variant	-	NC_000014.9:g.95444561A>C	gnomAD
SYNE3	Q6ZMZ3	p.Arg570Ser	rs556716725	missense variant	-	NC_000014.9:g.95444551C>A	gnomAD
SYNE3	Q6ZMZ3	p.Val571Ala	rs776518247	missense variant	-	NC_000014.9:g.95444549A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Val571Ile	rs1312771499	missense variant	-	NC_000014.9:g.95444550C>T	gnomAD
SYNE3	Q6ZMZ3	p.Gln572Arg	rs144257709	missense variant	-	NC_000014.9:g.95444546T>C	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu574Lys	rs773614686	missense variant	-	NC_000014.9:g.95444541C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Lys575Asn	rs374360574	missense variant	-	NC_000014.9:g.95444536C>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly576Val	rs897472998	missense variant	-	NC_000014.9:g.95444534C>A	gnomAD
SYNE3	Q6ZMZ3	p.Arg579Trp	rs774782727	missense variant	-	NC_000014.9:g.95444526G>A	ExAC,TOPMed
SYNE3	Q6ZMZ3	p.Arg579Pro	rs768986406	missense variant	-	NC_000014.9:g.95444525C>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg579Leu	rs768986406	missense variant	-	NC_000014.9:g.95444525C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg579Gln	rs768986406	missense variant	-	NC_000014.9:g.95444525C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp580Glu	rs1255191720	missense variant	-	NC_000014.9:g.95444521G>T	gnomAD
SYNE3	Q6ZMZ3	p.Asp580Tyr	COSM6076786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95444523C>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Gln585Arg	rs535952387	missense variant	-	NC_000014.9:g.95444507T>C	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala586Thr	rs755662883	missense variant	-	NC_000014.9:g.95444505C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln587Arg	rs1317831172	missense variant	-	NC_000014.9:g.95444501T>C	gnomAD
SYNE3	Q6ZMZ3	p.Ser589Ter	COSM6076789	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95444495G>C	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Gln592Lys	rs141984619	missense variant	-	NC_000014.9:g.95444487G>T	ESP,TOPMed
SYNE3	Q6ZMZ3	p.Gln595Arg	rs1438039270	missense variant	-	NC_000014.9:g.95443282T>C	gnomAD
SYNE3	Q6ZMZ3	p.Glu596Gly	rs750472860	missense variant	-	NC_000014.9:g.95443279T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu596Lys	rs1260020654	missense variant	-	NC_000014.9:g.95443280C>T	TOPMed
SYNE3	Q6ZMZ3	p.Glu597Gly	rs767762825	missense variant	-	NC_000014.9:g.95443276T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu599Gln	rs200840336	missense variant	-	NC_000014.9:g.95443270A>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly602Glu	rs1467261890	missense variant	-	NC_000014.9:g.95443261C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala603Thr	rs1241900455	missense variant	-	NC_000014.9:g.95443259C>T	TOPMed
SYNE3	Q6ZMZ3	p.Gln604Leu	rs764345357	missense variant	-	NC_000014.9:g.95443255T>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg609Ser	rs372953935	missense variant	-	NC_000014.9:g.95443239C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg609Lys	rs968344741	missense variant	-	NC_000014.9:g.95443240C>T	TOPMed
SYNE3	Q6ZMZ3	p.Pro610Arg	rs1468805264	missense variant	-	NC_000014.9:g.95443237G>C	TOPMed
SYNE3	Q6ZMZ3	p.Leu611Pro	rs368962250	missense variant	-	NC_000014.9:g.95443234A>G	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln613Arg	rs760052843	missense variant	-	NC_000014.9:g.95443228T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu614Lys	rs1202376572	missense variant	-	NC_000014.9:g.95443226C>T	gnomAD
SYNE3	Q6ZMZ3	p.Glu614Asp	rs776109215	missense variant	-	NC_000014.9:g.95443224C>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro616Ala	rs942402554	missense variant	-	NC_000014.9:g.95443220G>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asn617Ser	rs910953674	missense variant	-	NC_000014.9:g.95443216T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.His618Asp	rs770496775	missense variant	-	NC_000014.9:g.95443214G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.His618Tyr	rs770496775	missense variant	-	NC_000014.9:g.95443214G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln619Ter	rs746617485	stop gained	-	NC_000014.9:g.95443211G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.His620Gln	rs539126470	missense variant	-	NC_000014.9:g.95443206G>C	1000Genomes,ExAC
SYNE3	Q6ZMZ3	p.Lys621Arg	rs771649997	missense variant	-	NC_000014.9:g.95443204T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Met622Ile	rs1401666360	missense variant	-	NC_000014.9:g.95443200C>A	TOPMed
SYNE3	Q6ZMZ3	p.Asp623Gly	rs1296303272	missense variant	-	NC_000014.9:g.95443198T>C	gnomAD
SYNE3	Q6ZMZ3	p.Gln624Ter	rs1461359913	stop gained	-	NC_000014.9:g.95443196G>A	gnomAD
SYNE3	Q6ZMZ3	p.Gln624Arg	rs747905842	missense variant	-	NC_000014.9:g.95443195T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu625Ile	rs1291910900	missense variant	-	NC_000014.9:g.95443193G>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser627Phe	rs375970247	missense variant	-	NC_000014.9:g.95443186G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp628Asn	rs753892119	missense variant	-	NC_000014.9:g.95443184C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala631Asp	rs781387235	missense variant	-	NC_000014.9:g.95443174G>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg634Lys	rs367881284	missense variant	-	NC_000014.9:g.95443165C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser635Phe	rs372244319	missense variant	-	NC_000014.9:g.95443162G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp638Asn	rs1193222648	missense variant	-	NC_000014.9:g.95440075C>T	gnomAD
SYNE3	Q6ZMZ3	p.Asp638Ala	rs1431720244	missense variant	-	NC_000014.9:g.95440074T>G	TOPMed
SYNE3	Q6ZMZ3	p.Leu639Pro	rs772764129	missense variant	-	NC_000014.9:g.95440071A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Val640Met	rs1335156021	missense variant	-	NC_000014.9:g.95440069C>T	gnomAD
SYNE3	Q6ZMZ3	p.Asp641Glu	rs1274748440	missense variant	-	NC_000014.9:g.95440064G>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp641Glu	rs1274748440	missense variant	-	NC_000014.9:g.95440064G>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg642Lys	rs1231243622	missense variant	-	NC_000014.9:g.95440062C>T	gnomAD
SYNE3	Q6ZMZ3	p.Cys643Arg	rs1334009738	missense variant	-	NC_000014.9:g.95440060A>G	gnomAD
SYNE3	Q6ZMZ3	p.Arg644Gln	rs761524122	missense variant	-	NC_000014.9:g.95440056C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg644Trp	rs767003225	missense variant	-	NC_000014.9:g.95440057G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln645Ter	rs1324747825	stop gained	-	NC_000014.9:g.95440054G>A	gnomAD
SYNE3	Q6ZMZ3	p.His650Tyr	rs774194767	missense variant	-	NC_000014.9:g.95440039G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.His650Gln	rs188418564	missense variant	-	NC_000014.9:g.95440037G>C	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Cys651Trp	COSM3370116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95440034G>C	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Thr652Asn	rs1282980856	missense variant	-	NC_000014.9:g.95440032G>T	TOPMed
SYNE3	Q6ZMZ3	p.His655Arg	rs749054339	missense variant	-	NC_000014.9:g.95440023T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.His655Tyr	rs1324239796	missense variant	-	NC_000014.9:g.95440024G>A	gnomAD
SYNE3	Q6ZMZ3	p.Leu657Val	rs1170122504	missense variant	-	NC_000014.9:g.95440018G>C	gnomAD
SYNE3	Q6ZMZ3	p.Leu657Pro	rs769715277	missense variant	-	NC_000014.9:g.95440017A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu658Pro	rs936287670	missense variant	-	NC_000014.9:g.95440014A>G	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu658Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95440015G>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg661Gln	rs951576901	missense variant	-	NC_000014.9:g.95440005C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg661Trp	rs145629361	missense variant	-	NC_000014.9:g.95440006G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp663Ter	rs1254518764	stop gained	-	NC_000014.9:g.95439998C>T	gnomAD
SYNE3	Q6ZMZ3	p.Val665Leu	rs748350441	missense variant	-	NC_000014.9:g.95439994C>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val665Ile	rs748350441	missense variant	-	NC_000014.9:g.95439994C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val666Met	rs945131973	missense variant	-	NC_000014.9:g.95439991C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val666Leu	rs945131973	missense variant	-	NC_000014.9:g.95439991C>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr668Met	rs9671369	missense variant	-	NC_000014.9:g.95439984G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Lys670Met	rs78302139	missense variant	-	NC_000014.9:g.95439978T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala673Thr	rs1017780853	missense variant	-	NC_000014.9:g.95439970C>T	gnomAD
SYNE3	Q6ZMZ3	p.His674Gln	rs1333294721	missense variant	-	NC_000014.9:g.95439965G>T	TOPMed
SYNE3	Q6ZMZ3	p.His674Arg	rs766708082	missense variant	-	NC_000014.9:g.95439966T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg675Trp	rs756639179	missense variant	-	NC_000014.9:g.95439964G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg675Gln	rs149167483	missense variant	-	NC_000014.9:g.95439963C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg675Leu	rs149167483	missense variant	-	NC_000014.9:g.95439963C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg675Gly	rs756639179	missense variant	-	NC_000014.9:g.95439964G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly676Arg	rs761356467	missense variant	-	NC_000014.9:g.95439961C>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu677Lys	rs1288157699	missense variant	-	NC_000014.9:g.95439958C>T	gnomAD
SYNE3	Q6ZMZ3	p.Glu677Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95439958C>G	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ala678Val	rs201726994	missense variant	-	NC_000014.9:g.95439954G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly679Asp	rs935140434	missense variant	-	NC_000014.9:g.95439951C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro680Arg	rs769547536	missense variant	-	NC_000014.9:g.95439948G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro680Leu	rs769547536	missense variant	-	NC_000014.9:g.95439948G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp682Asn	rs931755693	missense variant	-	NC_000014.9:g.95439943C>T	TOPMed
SYNE3	Q6ZMZ3	p.Ala683Asp	rs144731675	missense variant	-	NC_000014.9:g.95439939G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu684Ala	rs748156365	missense variant	-	NC_000014.9:g.95439936T>G	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu684Lys	rs1161481401	missense variant	-	NC_000014.9:g.95439937C>T	TOPMed
SYNE3	Q6ZMZ3	p.Ser685Pro	rs778973496	missense variant	-	NC_000014.9:g.95439934A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu689Lys	rs749577390	missense variant	-	NC_000014.9:g.95439922C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg692Ser	rs1354127661	missense variant	-	NC_000014.9:g.95439782C>A	gnomAD
SYNE3	Q6ZMZ3	p.Val694Met	rs781702238	missense variant	-	NC_000014.9:g.95439778C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val694Gly	rs202087389	missense variant	-	NC_000014.9:g.95439777A>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala695Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95439774G>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Glu696Gly	rs1251705935	missense variant	-	NC_000014.9:g.95439771T>C	TOPMed
SYNE3	Q6ZMZ3	p.Pro698Gln	rs371647696	missense variant	-	NC_000014.9:g.95439765G>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro698Leu	rs371647696	missense variant	-	NC_000014.9:g.95439765G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu699Gln	rs563209323	missense variant	-	NC_000014.9:g.95439763C>G	1000Genomes
SYNE3	Q6ZMZ3	p.Lys700Asn	rs61754461	missense variant	-	NC_000014.9:g.95439758C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu701Lys	rs1182524290	missense variant	-	NC_000014.9:g.95439757C>T	TOPMed
SYNE3	Q6ZMZ3	p.Gln703Glu	rs577412246	missense variant	-	NC_000014.9:g.95439751G>C	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala709Val	rs144196871	missense variant	-	NC_000014.9:g.95439732G>A	ESP,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala709Thr	COSM3987854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95439733C>T	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Gly711Ser	rs762900883	missense variant	-	NC_000014.9:g.95439727C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly711Cys	rs762900883	missense variant	-	NC_000014.9:g.95439727C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp712Ter	rs1446709420	stop gained	-	NC_000014.9:g.95439723C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val714Met	rs868284481	missense variant	-	NC_000014.9:g.95439718C>T	TOPMed
SYNE3	Q6ZMZ3	p.Met715Thr	rs1375380342	missense variant	-	NC_000014.9:g.95439714A>G	TOPMed
SYNE3	Q6ZMZ3	p.Pro720Leu	rs140338587	missense variant	-	NC_000014.9:g.95439699G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro720Ala	rs775645776	missense variant	-	NC_000014.9:g.95439700G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala723Thr	rs1359380918	missense variant	-	NC_000014.9:g.95439691C>T	TOPMed
SYNE3	Q6ZMZ3	p.Ala724Val	rs748337224	missense variant	-	NC_000014.9:g.95439687G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val725Met	rs572478808	missense variant	-	NC_000014.9:g.95439685C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val725Leu	rs572478808	missense variant	-	NC_000014.9:g.95439685C>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gln727Ter	rs1387474671	stop gained	-	NC_000014.9:g.95439679G>A	gnomAD
SYNE3	Q6ZMZ3	p.Glu729Lys	rs778380161	missense variant	-	NC_000014.9:g.95439673C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu729Asp	rs1186608873	missense variant	-	NC_000014.9:g.95439671C>A	gnomAD
SYNE3	Q6ZMZ3	p.Glu729Ter	rs778380161	stop gained	-	NC_000014.9:g.95439673C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu729Val	rs758978380	missense variant	-	NC_000014.9:g.95439672T>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu730His	rs1429109699	missense variant	-	NC_000014.9:g.95439669A>T	gnomAD
SYNE3	Q6ZMZ3	p.Arg731Gly	rs1421738616	missense variant	-	NC_000014.9:g.95439667T>C	gnomAD
SYNE3	Q6ZMZ3	p.Arg731Trp	rs1421738616	missense variant	-	NC_000014.9:g.95439667T>A	gnomAD
SYNE3	Q6ZMZ3	p.Arg731Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95439666C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Glu732Ter	rs778539204	stop gained	-	NC_000014.9:g.95439664C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu732Gly	COSM3886654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95439663T>C	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu732Gln	COSM6076792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95439664C>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu735Lys	rs1215831743	missense variant	-	NC_000014.9:g.95439655C>T	gnomAD
SYNE3	Q6ZMZ3	p.Ser736Leu	rs753564172	missense variant	-	NC_000014.9:g.95439651G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ser736Ala	rs1273009478	missense variant	-	NC_000014.9:g.95439652A>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp737Ter	rs755851563	stop gained	-	NC_000014.9:g.95439648C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg738Trp	rs750249553	missense variant	-	NC_000014.9:g.95439646G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg738Gln	rs767375655	missense variant	-	NC_000014.9:g.95439645C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala739Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95439643C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg741Ser	rs142537412	missense variant	-	NC_000014.9:g.95439635C>G	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg741Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95439636C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu743Pro	rs535878871	missense variant	-	NC_000014.9:g.95439630A>G	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu744Gly	rs201448388	missense variant	-	NC_000014.9:g.95439627T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu745Ter	rs1342905202	stop gained	-	NC_000014.9:g.95439625C>A	TOPMed
SYNE3	Q6ZMZ3	p.Ser746Arg	rs759647504	missense variant	-	NC_000014.9:g.95439620A>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu747Arg	rs1356226818	missense variant	-	NC_000014.9:g.95439618A>C	gnomAD
SYNE3	Q6ZMZ3	p.Arg752Lys	rs1160242482	missense variant	-	NC_000014.9:g.95439154C>T	gnomAD
SYNE3	Q6ZMZ3	p.Asn753Lys	rs781099784	missense variant	-	NC_000014.9:g.95439150G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asn753Thr	rs1421222204	missense variant	-	NC_000014.9:g.95439151T>G	gnomAD
SYNE3	Q6ZMZ3	p.Trp754Ter	rs144319184	stop gained	-	NC_000014.9:g.95439147C>T	ESP
SYNE3	Q6ZMZ3	p.Trp754Gly	rs759033948	missense variant	-	NC_000014.9:g.95439149A>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Trp754Ter	rs751557832	stop gained	-	NC_000014.9:g.95439148C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Val761Ala	rs1369300254	missense variant	-	NC_000014.9:g.95439127A>G	TOPMed
SYNE3	Q6ZMZ3	p.Ser763Leu	rs765212058	missense variant	-	NC_000014.9:g.95439121G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly764Val	rs766645599	missense variant	-	NC_000014.9:g.95439118C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Lys765Asn	rs761031540	missense variant	-	NC_000014.9:g.95439114C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Lys765Gln	rs1346505286	missense variant	-	NC_000014.9:g.95439116T>G	TOPMed
SYNE3	Q6ZMZ3	p.Met767Ile	rs773702748	missense variant	-	NC_000014.9:g.95439108C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Phe769Leu	rs772524614	missense variant	-	NC_000014.9:g.95439102G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr770Pro	rs1221580831	missense variant	-	NC_000014.9:g.95439101T>G	TOPMed
SYNE3	Q6ZMZ3	p.Thr770Ile	rs1304682308	missense variant	-	NC_000014.9:g.95439100G>A	gnomAD
SYNE3	Q6ZMZ3	p.Asn771Ser	rs141609511	missense variant	-	NC_000014.9:g.95439097T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asn771Ile	rs141609511	missense variant	-	NC_000014.9:g.95439097T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asn772Ser	rs978203906	missense variant	-	NC_000014.9:g.95439094T>C	TOPMed
SYNE3	Q6ZMZ3	p.Asn772Asp	rs1314771442	missense variant	-	NC_000014.9:g.95439095T>C	gnomAD
SYNE3	Q6ZMZ3	p.Ser776Leu	rs550965393	missense variant	-	NC_000014.9:g.95439082G>A	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Phe778Tyr	rs377209700	missense variant	-	NC_000014.9:g.95439076A>T	ESP,TOPMed
SYNE3	Q6ZMZ3	p.Leu779Phe	rs770818140	missense variant	-	NC_000014.9:g.95439074G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile780Asn	rs1455592733	missense variant	-	NC_000014.9:g.95439070A>T	gnomAD
SYNE3	Q6ZMZ3	p.Asn781Ser	rs575658188	missense variant	-	NC_000014.9:g.95439067T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro782Arg	rs555821802	missense variant	-	NC_000014.9:g.95439064G>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro782His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95439064G>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Met783Ile	rs779552067	missense variant	-	NC_000014.9:g.95439060C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Met783Thr	rs760638317	missense variant	-	NC_000014.9:g.95439061A>G	gnomAD
SYNE3	Q6ZMZ3	p.Met783Ile	rs779552067	missense variant	-	NC_000014.9:g.95439060C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro785Ser	rs769423169	missense variant	-	NC_000014.9:g.95439056G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro785His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95439055G>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg788Lys	COSM4536945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95439046C>T	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Arg790His	rs146407791	missense variant	-	NC_000014.9:g.95439040C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg790Cys	rs554951423	missense variant	-	NC_000014.9:g.95439041G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg790Gly	rs554951423	missense variant	-	NC_000014.9:g.95439041G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg791Gln	rs751335846	missense variant	-	NC_000014.9:g.95439037C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg791Gly	rs757125407	missense variant	-	NC_000014.9:g.95439038G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg791Ter	rs757125407	stop gained	-	NC_000014.9:g.95439038G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg792Cys	rs777728702	missense variant	-	NC_000014.9:g.95439035G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg792His	rs758419026	missense variant	-	NC_000014.9:g.95439034C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala793Thr	rs1387836712	missense variant	-	NC_000014.9:g.95436981C>T	gnomAD
SYNE3	Q6ZMZ3	p.Asn794Ser	rs751938689	missense variant	-	NC_000014.9:g.95436977T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu798Gly	rs764511039	missense variant	-	NC_000014.9:g.95436965T>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser802Arg	rs555598757	missense variant	-	NC_000014.9:g.95436952G>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser802Gly	rs974356373	missense variant	-	NC_000014.9:g.95436954T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser802Asn	rs776027792	missense variant	-	NC_000014.9:g.95436953C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.His803Arg	rs1235208740	missense variant	-	NC_000014.9:g.95436950T>C	gnomAD
SYNE3	Q6ZMZ3	p.Glu804Lys	rs1225363469	missense variant	-	NC_000014.9:g.95436948C>T	TOPMed
SYNE3	Q6ZMZ3	p.Phe806Leu	rs1373486035	missense variant	-	NC_000014.9:g.95436942A>G	gnomAD
SYNE3	Q6ZMZ3	p.Phe806Ser	COSM3987851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95436941A>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Phe806Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95436941A>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ser807Pro	rs1340285125	missense variant	-	NC_000014.9:g.95436939A>G	TOPMed
SYNE3	Q6ZMZ3	p.Gln808Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95436936G>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu810Val	rs759010266	missense variant	-	NC_000014.9:g.95436930G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asn812Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95436923T>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Phe813Leu	rs1331436219	missense variant	-	NC_000014.9:g.95436921A>G	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Phe813Cys	rs776012276	missense variant	-	NC_000014.9:g.95436920A>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Phe813Ser	rs776012276	missense variant	-	NC_000014.9:g.95436920A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gly814Glu	rs770563232	missense variant	-	NC_000014.9:g.95436917C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gly814Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95436917C>G	NCI-TCGA
SYNE3	Q6ZMZ3	p.Trp816Arg	rs1434893230	missense variant	-	NC_000014.9:g.95436912A>G	gnomAD
SYNE3	Q6ZMZ3	p.Trp816Cys	rs537347555	missense variant	-	NC_000014.9:g.95436910C>A	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln818Ter	rs1170556868	stop gained	-	NC_000014.9:g.95436906G>A	gnomAD
SYNE3	Q6ZMZ3	p.Val819Leu	rs773024495	missense variant	-	NC_000014.9:g.95436903C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu820Lys	rs1183894350	missense variant	-	NC_000014.9:g.95436900C>T	gnomAD
SYNE3	Q6ZMZ3	p.Asn821Ser	rs747975370	missense variant	-	NC_000014.9:g.95436896T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asn821ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95436896T>-	NCI-TCGA
SYNE3	Q6ZMZ3	p.Lys823Arg	rs778952658	missense variant	-	NC_000014.9:g.95436890T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu824Val	rs1350270899	missense variant	-	NC_000014.9:g.95436888G>C	gnomAD
SYNE3	Q6ZMZ3	p.Leu824Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95436887A>C	NCI-TCGA
SYNE3	Q6ZMZ3	p.Val825Ile	rs1488765792	missense variant	-	NC_000014.9:g.95436885C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg826Thr	rs1264838262	missense variant	-	NC_000014.9:g.95436881C>G	gnomAD
SYNE3	Q6ZMZ3	p.Ile827Val	rs1276728108	missense variant	-	NC_000014.9:g.95436879T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile828Met	rs200011095	missense variant	-	NC_000014.9:g.95436874G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ile828Phe	rs754969110	missense variant	-	NC_000014.9:g.95436876T>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ile828Val	rs754969110	missense variant	-	NC_000014.9:g.95436876T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala829Thr	rs757497360	missense variant	-	NC_000014.9:g.95436873C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Met830Leu	rs1227025176	missense variant	-	NC_000014.9:g.95436870T>G	gnomAD
SYNE3	Q6ZMZ3	p.Thr832Ile	rs1173883199	missense variant	-	NC_000014.9:g.95436863G>A	TOPMed
SYNE3	Q6ZMZ3	p.Ser833LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95436861_95436862insG	NCI-TCGA
SYNE3	Q6ZMZ3	p.Asp837Glu	rs1404997897	missense variant	-	NC_000014.9:g.95436847G>T	TOPMed
SYNE3	Q6ZMZ3	p.Ser843Leu	rs758715860	missense variant	-	NC_000014.9:g.95436830G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln846Arg	rs1331773091	missense variant	-	NC_000014.9:g.95436821T>C	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu847Ter	rs767219231	stop gained	-	NC_000014.9:g.95433409C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu848Pro	COSM4053310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95433405A>G	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Glu849Lys	rs761615747	missense variant	-	NC_000014.9:g.95433403C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg851Gln	rs529915336	missense variant	-	NC_000014.9:g.95433396C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg851Trp	rs542033506	missense variant	-	NC_000014.9:g.95433397G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly855Cys	rs1056558059	missense variant	-	NC_000014.9:g.95433385C>A	TOPMed
SYNE3	Q6ZMZ3	p.Gln856Ter	rs939347179	stop gained	-	NC_000014.9:g.95433382G>A	TOPMed
SYNE3	Q6ZMZ3	p.His857Pro	rs775243365	missense variant	-	NC_000014.9:g.95433378T>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu858Val	rs769804447	missense variant	-	NC_000014.9:g.95433376G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu860Ala	rs746997603	missense variant	-	NC_000014.9:g.95433369T>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asn861Lys	rs1362090662	missense variant	-	NC_000014.9:g.95433365G>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu862Pro	rs1486813133	missense variant	-	NC_000014.9:g.95433363A>G	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu862Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95433364G>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu863Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95433361G>C	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg864Cys	rs141951711	missense variant	-	NC_000014.9:g.95433358G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg864His	rs17092216	missense variant	-	NC_000014.9:g.95433357C>T	UniProt,dbSNP
SYNE3	Q6ZMZ3	p.Arg864His	VAR_031232	missense variant	-	NC_000014.9:g.95433357C>T	UniProt
SYNE3	Q6ZMZ3	p.Arg864His	rs17092216	missense variant	-	NC_000014.9:g.95433357C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu865Ile	rs889490423	missense variant	-	NC_000014.9:g.95433355G>T	TOPMed
SYNE3	Q6ZMZ3	p.Leu865Phe	rs889490423	missense variant	-	NC_000014.9:g.95433355G>A	TOPMed
SYNE3	Q6ZMZ3	p.Gly866Glu	rs1348073866	missense variant	-	NC_000014.9:g.95433351C>T	gnomAD
SYNE3	Q6ZMZ3	p.Gly866Arg	rs779223333	missense variant	-	NC_000014.9:g.95433352C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly866Trp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95433352C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Pro867Ser	rs370756236	missense variant	-	NC_000014.9:g.95433349G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg869Ser	rs373985574	missense variant	-	NC_000014.9:g.95433341C>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr871IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95433335_95433336GG>-	NCI-TCGA
SYNE3	Q6ZMZ3	p.Ser872Leu	rs767202552	missense variant	-	NC_000014.9:g.95433333G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asp873Gly	rs751305624	missense variant	-	NC_000014.9:g.95433330T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu874Lys	rs1265340363	missense variant	-	NC_000014.9:g.95433328C>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu874Asp	rs1311917143	missense variant	-	NC_000014.9:g.95433326C>A	TOPMed
SYNE3	Q6ZMZ3	p.Leu875Met	rs1205889014	missense variant	-	NC_000014.9:g.95433325G>T	gnomAD
SYNE3	Q6ZMZ3	p.Asp877Tyr	rs763830611	missense variant	-	NC_000014.9:g.95433319C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp877Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95433317A>C	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg879Cys	rs199512224	missense variant	-	NC_000014.9:g.95433313G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg879Gly	rs199512224	missense variant	-	NC_000014.9:g.95433313G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg879His	rs1225646791	missense variant	-	NC_000014.9:g.95433312C>T	gnomAD
SYNE3	Q6ZMZ3	p.Arg879Ser	rs199512224	missense variant	-	NC_000014.9:g.95433313G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Tyr880His	rs569529532	missense variant	-	NC_000014.9:g.95433310A>G	1000Genomes,ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Gln881Arg	rs987276582	missense variant	-	NC_000014.9:g.95433306T>C	TOPMed
SYNE3	Q6ZMZ3	p.Met883Thr	rs1303813624	missense variant	-	NC_000014.9:g.95433300A>G	gnomAD
SYNE3	Q6ZMZ3	p.Leu884Pro	rs1388334635	missense variant	-	NC_000014.9:g.95433297A>G	gnomAD
SYNE3	Q6ZMZ3	p.Tyr885Cys	COSM6141734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95433294T>C	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Lys886Glu	rs1292850902	missense variant	-	NC_000014.9:g.95433292T>C	gnomAD
SYNE3	Q6ZMZ3	p.Ser887Cys	rs759531353	missense variant	-	NC_000014.9:g.95433288G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu889Met	rs772184671	missense variant	-	NC_000014.9:g.95433283G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu889Val	rs772184671	missense variant	-	NC_000014.9:g.95433283G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Asp891Asn	rs748245892	missense variant	-	NC_000014.9:g.95433277C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ser892Cys	rs116642867	missense variant	-	NC_000014.9:g.95433273G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser892Phe	rs116642867	missense variant	-	NC_000014.9:g.95433273G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Gly893Ala	rs1431780971	missense variant	-	NC_000014.9:g.95433270C>G	gnomAD
SYNE3	Q6ZMZ3	p.Ser899Asn	rs753631914	missense variant	-	NC_000014.9:g.95432110C>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ser899Ile	rs753631914	missense variant	-	NC_000014.9:g.95432110C>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ser900Thr	rs1401797401	missense variant	-	NC_000014.9:g.95432108A>T	gnomAD
SYNE3	Q6ZMZ3	p.Ser900Phe	rs766243230	missense variant	-	NC_000014.9:g.95432107G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ser900Tyr	COSM1587724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95432107G>T	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Pro901Ser	rs1354196722	missense variant	-	NC_000014.9:g.95432105G>A	TOPMed
SYNE3	Q6ZMZ3	p.Glu903Val	rs751585432	missense variant	-	NC_000014.9:g.95432098T>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu903Gly	rs751585432	missense variant	-	NC_000014.9:g.95432098T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Glu903Lys	COSM4831715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95432099C>T	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Pro904Leu	rs375503107	missense variant	-	NC_000014.9:g.95432095G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro904Ser	rs764273195	missense variant	-	NC_000014.9:g.95432096G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr905Ala	rs559676188	missense variant	-	NC_000014.9:g.95432093T>C	1000Genomes
SYNE3	Q6ZMZ3	p.Arg911Gln	rs781142957	missense variant	-	NC_000014.9:g.95418022C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg911Trp	rs141381311	missense variant	-	NC_000014.9:g.95418023G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg912Gly	rs370277221	missense variant	-	NC_000014.9:g.95418020G>C	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg912Gln	rs765445342	missense variant	-	NC_000014.9:g.95418019C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg912Trp	rs370277221	missense variant	-	NC_000014.9:g.95418020G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg914Gln	rs369096132	missense variant	-	NC_000014.9:g.95418013C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg914Gly	rs566185678	missense variant	-	NC_000014.9:g.95418014G>C	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg914Ter	rs566185678	stop gained	-	NC_000014.9:g.95418014G>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg914Gln	rs369096132	missense variant	-	NC_000014.9:g.95418013C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Gly915Arg	rs1379214165	missense variant	-	NC_000014.9:g.95418011C>T	gnomAD
SYNE3	Q6ZMZ3	p.Gly917Cys	rs912858087	missense variant	-	NC_000014.9:g.95418005C>A	gnomAD
SYNE3	Q6ZMZ3	p.Leu919Ile	rs766717375	missense variant	-	NC_000014.9:g.95417999G>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu919Val	rs766717375	missense variant	-	NC_000014.9:g.95417999G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg921Gly	rs746262942	missense variant	-	NC_000014.9:g.95417993G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg921Gln	rs762269580	missense variant	-	NC_000014.9:g.95417992C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg921Trp	rs746262942	missense variant	-	NC_000014.9:g.95417993G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg922Gly	COSM3815612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95417990T>C	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Ala923Val	rs12434757	missense variant	-	NC_000014.9:g.95417986G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala923Thr	rs1274160190	missense variant	-	NC_000014.9:g.95417987C>T	gnomAD
SYNE3	Q6ZMZ3	p.Cys924Arg	rs748810369	missense variant	-	NC_000014.9:g.95417984A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ala927Val	rs142276866	missense variant	-	NC_000014.9:g.95417974G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala927Val	rs142276866	missense variant	-	NC_000014.9:g.95417974G>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu928Phe	rs1308073493	missense variant	-	NC_000014.9:g.95417972G>A	gnomAD
SYNE3	Q6ZMZ3	p.Leu930Pro	rs375097470	missense variant	-	NC_000014.9:g.95417965A>G	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu932Met	rs1368222140	missense variant	-	NC_000014.9:g.95417960G>T	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu933Arg	rs1414752467	missense variant	-	NC_000014.9:g.95417956A>C	gnomAD
SYNE3	Q6ZMZ3	p.Leu938Phe	rs1170613183	missense variant	-	NC_000014.9:g.95417942G>A	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu939Phe	rs779120100	missense variant	-	NC_000014.9:g.95417939G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Leu941CysPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95417934C>-	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu941ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95417932A>-	NCI-TCGA
SYNE3	Q6ZMZ3	p.Leu943Pro	rs1211002440	missense variant	-	NC_000014.9:g.95417926A>G	TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu944Phe	rs750772416	missense variant	-	NC_000014.9:g.95417924G>A	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro945Arg	rs762297360	missense variant	-	NC_000014.9:g.95417920G>C	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Pro945Ala	rs767839740	missense variant	-	NC_000014.9:g.95417921G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Ile946Val	rs10130647	missense variant	-	NC_000014.9:g.95417918T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Glu948Gly	rs764589082	missense variant	-	NC_000014.9:g.95417911T>C	ExAC
SYNE3	Q6ZMZ3	p.Glu948Lys	rs1348084419	missense variant	-	NC_000014.9:g.95417912C>T	gnomAD
SYNE3	Q6ZMZ3	p.Glu949Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95417908T>G	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg951Cys	rs200254064	missense variant	-	NC_000014.9:g.95417903G>A	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg951His	rs540014645	missense variant	-	NC_000014.9:g.95417902C>T	1000Genomes,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg951His	rs540014645	missense variant	-	NC_000014.9:g.95417902C>T	NCI-TCGA,NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Ser952Asn	rs1331833780	missense variant	-	NC_000014.9:g.95417899C>T	gnomAD
SYNE3	Q6ZMZ3	p.Cys953Ser	rs745545054	missense variant	-	NC_000014.9:g.95417897A>T	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr954Ala	rs770687063	missense variant	-	NC_000014.9:g.95417894T>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr954Asn	rs1247110991	missense variant	-	NC_000014.9:g.95417893G>T	TOPMed
SYNE3	Q6ZMZ3	p.Ala956Ser	rs150752116	missense variant	-	NC_000014.9:g.95417888C>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Asn958Ser	rs144399075	missense variant	-	NC_000014.9:g.95417881T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Ala960Thr	rs749360218	missense variant	-	NC_000014.9:g.95417876C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg961His	rs146368343	missense variant	-	NC_000014.9:g.95417872C>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg961Cys	rs778693061	missense variant	-	NC_000014.9:g.95417873G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Phe963Leu	rs750670879	missense variant	-	NC_000014.9:g.95417867A>G	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Thr964Met	rs368574040	missense variant	-	NC_000014.9:g.95417863G>A	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Thr964Lys	rs368574040	missense variant	-	NC_000014.9:g.95417863G>T	ESP,ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Leu967Arg	rs752219918	missense variant	-	NC_000014.9:g.95417854A>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Arg968His	rs759211520	missense variant	-	NC_000014.9:g.95417851C>T	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg968Leu	rs759211520	missense variant	-	NC_000014.9:g.95417851C>A	NCI-TCGA
SYNE3	Q6ZMZ3	p.Arg968Leu	rs759211520	missense variant	-	NC_000014.9:g.95417851C>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg968Cys	rs764718779	missense variant	-	NC_000014.9:g.95417852G>A	ExAC,TOPMed,gnomAD
SYNE3	Q6ZMZ3	p.Arg968Cys	rs764718779	missense variant	-	NC_000014.9:g.95417852G>A	NCI-TCGA,NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Gly971Val	COSM6076795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95417842C>A	NCI-TCGA Cosmic
SYNE3	Q6ZMZ3	p.Gly971Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95417842C>T	NCI-TCGA
SYNE3	Q6ZMZ3	p.Pro973Arg	rs776086121	missense variant	-	NC_000014.9:g.95417836G>C	ExAC,gnomAD
SYNE3	Q6ZMZ3	p.Pro974Ser	rs770618182	missense variant	-	NC_000014.9:g.95417834G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala2Thr	rs769895835	missense variant	-	NC_000009.12:g.16738485C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala2Ser	rs769895835	missense variant	-	NC_000009.12:g.16738485C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His3Arg	rs745890218	missense variant	-	NC_000009.12:g.16738481T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.His3Gln	rs781311953	missense variant	-	NC_000009.12:g.16738480G>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Leu4Phe	rs1260443450	missense variant	-	NC_000009.12:g.16738479G>A	gnomAD
BNC2	Q6ZN30	p.Gly5Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16738476C>T	NCI-TCGA
BNC2	Q6ZN30	p.Gly5Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16738475C>T	NCI-TCGA
BNC2	Q6ZN30	p.Pro9Ser	rs753575838	missense variant	-	NC_000009.12:g.16738464G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His11Arg	rs1267527651	missense variant	-	NC_000009.12:g.16738457T>C	gnomAD
BNC2	Q6ZN30	p.Ser12Asn	rs766079461	missense variant	-	NC_000009.12:g.16738454C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser12Thr	rs766079461	missense variant	-	NC_000009.12:g.16738454C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Lys16AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.16738441_16738442insAA	NCI-TCGA
BNC2	Q6ZN30	p.Lys16Glu	rs1296414646	missense variant	-	NC_000009.12:g.16738443T>C	gnomAD
BNC2	Q6ZN30	p.Ser17Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16738439G>A	NCI-TCGA
BNC2	Q6ZN30	p.Ser17PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.16738439_16738440insAAGAA	NCI-TCGA
BNC2	Q6ZN30	p.Arg20Ser	rs1344217950	missense variant	-	NC_000009.12:g.16738429C>G	gnomAD
BNC2	Q6ZN30	p.Arg20Ser	rs1344217950	missense variant	-	NC_000009.12:g.16738429C>A	gnomAD
BNC2	Q6ZN30	p.Arg20Ser	rs1344217950	missense variant	-	NC_000009.12:g.16738429C>A	NCI-TCGA
BNC2	Q6ZN30	p.Leu21Arg	rs1340951827	missense variant	-	NC_000009.12:g.16738427A>C	TOPMed
BNC2	Q6ZN30	p.Leu21Val	rs1294622557	missense variant	-	NC_000009.12:g.16738428G>C	TOPMed
BNC2	Q6ZN30	p.Ser22Gly	rs79395563	missense variant	-	NC_000009.12:g.16738425T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser22Ile	rs767046032	missense variant	-	NC_000009.12:g.16738424C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Glu23Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16738422C>A	NCI-TCGA
BNC2	Q6ZN30	p.Gln24His	COSM3906374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16738417T>G	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Pro27Gln	COSM6182973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16738409G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ala28Gly	rs542363188	missense variant	-	NC_000009.12:g.16738406G>C	gnomAD
BNC2	Q6ZN30	p.Tyr29Cys	rs768447707	missense variant	-	NC_000009.12:g.16738403T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Lys31Thr	rs1478748238	missense variant	-	NC_000009.12:g.16738397T>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Val32Ile	rs1484821383	missense variant	-	NC_000009.12:g.16738395C>T	TOPMed
BNC2	Q6ZN30	p.Val32Ile	rs1484821383	missense variant	-	NC_000009.12:g.16738395C>T	NCI-TCGA
BNC2	Q6ZN30	p.Pro33Leu	rs114612810	missense variant	-	NC_000009.12:g.16738391G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Cys34Arg	rs368835020	missense variant	-	NC_000009.12:g.16738389A>G	ESP,TOPMed
BNC2	Q6ZN30	p.Cys34Tyr	rs775714848	missense variant	-	NC_000009.12:g.16738388C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly36Ala	rs1194252136	missense variant	-	NC_000009.12:g.16738382C>G	gnomAD
BNC2	Q6ZN30	p.Gly36Arg	rs746074143	missense variant	-	NC_000009.12:g.16738383C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Gly36Trp	COSM4936961	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16738383C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Val37Ile	rs1180254178	missense variant	-	NC_000009.12:g.16738380C>T	TOPMed
BNC2	Q6ZN30	p.Val37Gly	COSM3906372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16738379A>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp38His	rs781197763	missense variant	-	NC_000009.12:g.16738377C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr39Ala	rs1251937261	missense variant	-	NC_000009.12:g.16738374T>C	gnomAD
BNC2	Q6ZN30	p.Gln41His	rs374759345	missense variant	-	NC_000009.12:g.16738366T>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln41Ter	rs1322023272	stop gained	-	NC_000009.12:g.16738368G>A	gnomAD
BNC2	Q6ZN30	p.Ile42Thr	rs1224671349	missense variant	-	NC_000009.12:g.16738364A>G	gnomAD
BNC2	Q6ZN30	p.Glu45Gln	rs751122043	missense variant	-	NC_000009.12:g.16727994C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Glu46Lys	rs1242575883	missense variant	-	NC_000009.12:g.16727991C>T	gnomAD
BNC2	Q6ZN30	p.Ala47Ser	rs371947650	missense variant	-	NC_000009.12:g.16727988C>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Val49Met	rs758399953	missense variant	-	NC_000009.12:g.16727982C>T	ExAC
BNC2	Q6ZN30	p.Asp50Gly	rs752619220	missense variant	-	NC_000009.12:g.16727978T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Val51Ala	rs201020257	missense variant	-	NC_000009.12:g.16727975A>G	1000Genomes
BNC2	Q6ZN30	p.Glu53Asp	rs190711768	missense variant	-	NC_000009.12:g.16727968T>G	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu53Gln	rs1260341155	missense variant	-	NC_000009.12:g.16727970C>G	gnomAD
BNC2	Q6ZN30	p.Arg54Thr	rs569050720	missense variant	-	NC_000009.12:g.16727966C>G	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg54Lys	rs569050720	missense variant	-	NC_000009.12:g.16727966C>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg54Ile	rs569050720	missense variant	-	NC_000009.12:g.16727966C>A	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr56Arg	rs146566771	missense variant	-	NC_000009.12:g.16727960G>C	1000Genomes,ESP,TOPMed
BNC2	Q6ZN30	p.Gln57His	rs145011045	missense variant	-	NC_000009.12:g.16727956C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln57His	RCV000190258	missense variant	-	NC_000009.12:g.16727956C>A	ClinVar
BNC2	Q6ZN30	p.Gln57His	rs145011045	missense variant	-	NC_000009.12:g.16727956C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln57Glu	rs760776701	missense variant	-	NC_000009.12:g.16727958G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg58Ile	rs748674572	missense variant	-	NC_000009.12:g.16727954C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp59His	rs1242111217	missense variant	-	NC_000009.12:g.16727952C>G	TOPMed
BNC2	Q6ZN30	p.Arg60Gly	rs751530232	missense variant	-	NC_000009.12:g.16727949T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg60Thr	rs1381599444	missense variant	-	NC_000009.12:g.16727948C>G	gnomAD
BNC2	Q6ZN30	p.Arg60Ter	rs751530232	stop gained	-	NC_000009.12:g.16727949T>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu61Lys	rs200847406	missense variant	-	NC_000009.12:g.16727946C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Glu61Gln	rs200847406	missense variant	-	NC_000009.12:g.16727946C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro62Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16727943G>A	NCI-TCGA
BNC2	Q6ZN30	p.Pro62Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16727942G>T	NCI-TCGA
BNC2	Q6ZN30	p.Lys63Asn	rs780263163	missense variant	-	NC_000009.12:g.16727938C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg64Met	COSM1461588	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16727936C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp67His	rs1266159546	missense variant	-	NC_000009.12:g.16727928C>G	TOPMed
BNC2	Q6ZN30	p.Thr69Ile	rs1384908174	missense variant	-	NC_000009.12:g.16727921G>A	gnomAD
BNC2	Q6ZN30	p.Thr69Asn	rs1384908174	missense variant	-	NC_000009.12:g.16727921G>T	gnomAD
BNC2	Q6ZN30	p.Thr69Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16727922T>G	NCI-TCGA
BNC2	Q6ZN30	p.Leu70Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16727918A>C	NCI-TCGA
BNC2	Q6ZN30	p.Asp72Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16727913C>A	NCI-TCGA
BNC2	Q6ZN30	p.Cys74Ser	rs1009218937	missense variant	-	NC_000009.12:g.16727906C>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr75Ser	rs1371420349	missense variant	-	NC_000009.12:g.16727903G>C	gnomAD
BNC2	Q6ZN30	p.Asp76Gly	rs1488921825	missense variant	-	NC_000009.12:g.16727900T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn77Ser	rs757845982	missense variant	-	NC_000009.12:g.16727897T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Asn77Thr	rs757845982	missense variant	-	NC_000009.12:g.16727897T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser78Pro	rs1442582573	missense variant	-	NC_000009.12:g.16727895A>G	TOPMed
BNC2	Q6ZN30	p.Ser78Phe	rs1489714132	missense variant	-	NC_000009.12:g.16727894G>A	gnomAD
BNC2	Q6ZN30	p.Met79Leu	rs765171685	missense variant	-	NC_000009.12:g.16727892T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Met79Lys	rs1369284392	missense variant	-	NC_000009.12:g.16727891A>T	TOPMed
BNC2	Q6ZN30	p.Met79Val	rs765171685	missense variant	-	NC_000009.12:g.16727892T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Gln80Leu	rs1469632544	missense variant	-	NC_000009.12:g.16727888T>A	TOPMed
BNC2	Q6ZN30	p.Gln80His	rs1357786041	missense variant	-	NC_000009.12:g.16727887C>G	gnomAD
BNC2	Q6ZN30	p.Phe81Leu	rs754849003	missense variant	-	NC_000009.12:g.16727884G>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Gly82Arg	rs753706030	missense variant	-	NC_000009.12:g.16727883C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Gly82Arg	rs753706030	missense variant	-	NC_000009.12:g.16727883C>T	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Thr83Ser	rs766081839	missense variant	-	NC_000009.12:g.16727879G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg84Gly	rs139095515	missense variant	-	NC_000009.12:g.16727877T>C	ESP,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg84Thr	rs761033372	missense variant	-	NC_000009.12:g.16727876C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr85Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16727873G>A	NCI-TCGA
BNC2	Q6ZN30	p.Thr86Ile	rs375140619	missense variant	-	NC_000009.12:g.16727870G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr86Ser	rs375140619	missense variant	-	NC_000009.12:g.16727870G>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr87Met	rs1324381392	missense variant	-	NC_000009.12:g.16727867G>A	gnomAD
BNC2	Q6ZN30	p.Thr87Met	rs1324381392	missense variant	-	NC_000009.12:g.16727867G>A	NCI-TCGA
BNC2	Q6ZN30	p.Glu89Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16727862C>T	NCI-TCGA
BNC2	Q6ZN30	p.Pro90Thr	rs1407317032	missense variant	-	NC_000009.12:g.16727859G>T	gnomAD
BNC2	Q6ZN30	p.Gly91Ala	rs200096485	missense variant	-	NC_000009.12:g.16727855C>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly94Glu	rs775024918	missense variant	-	NC_000009.12:g.16727846C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly94Ala	rs775024918	missense variant	-	NC_000009.12:g.16727846C>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala99Gly	rs904959500	missense variant	-	NC_000009.12:g.16727831G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala99Val	rs904959500	missense variant	-	NC_000009.12:g.16727831G>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp100Asn	rs1480278008	missense variant	-	NC_000009.12:g.16727829C>T	gnomAD
BNC2	Q6ZN30	p.Thr101Ala	rs775993285	missense variant	-	NC_000009.12:g.16727826T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Leu103Phe	rs770042915	missense variant	-	NC_000009.12:g.16727820G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Phe105Ile	rs866081065	missense variant	-	NC_000009.12:g.16727814A>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Phe105Leu	rs866081065	missense variant	-	NC_000009.12:g.16727814A>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg106Thr	rs1270242765	missense variant	-	NC_000009.12:g.16727810C>G	gnomAD
BNC2	Q6ZN30	p.Met107Thr	rs1318506941	missense variant	-	NC_000009.12:g.16727807A>G	gnomAD
BNC2	Q6ZN30	p.Met107Val	rs746680237	missense variant	-	NC_000009.12:g.16727808T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Gln109His	rs771602439	missense variant	-	NC_000009.12:g.16727800T>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln110Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16727798T>A	NCI-TCGA
BNC2	Q6ZN30	p.Ala111Val	rs754284081	missense variant	-	NC_000009.12:g.16583084G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala111Thr	rs754525859	missense variant	-	NC_000009.12:g.16583085C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala111Gly	rs754284081	missense variant	-	NC_000009.12:g.16583084G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg113Cys	rs1362121192	missense variant	-	NC_000009.12:g.16583079G>A	TOPMed
BNC2	Q6ZN30	p.Arg113His	rs1398184971	missense variant	-	NC_000009.12:g.16583078C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr115Ile	rs766731850	missense variant	-	NC_000009.12:g.16583072G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Asn118Ser	rs760905584	missense variant	-	NC_000009.12:g.16583063T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr120Ala	rs774070642	missense variant	-	NC_000009.12:g.16583058T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr120Ile	rs1431272013	missense variant	-	NC_000009.12:g.16583057G>A	gnomAD
BNC2	Q6ZN30	p.Glu122Lys	rs1245698892	missense variant	-	NC_000009.12:g.16583052C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly127Val	rs1248045321	missense variant	-	NC_000009.12:g.16583036C>A	gnomAD
BNC2	Q6ZN30	p.Lys128Met	rs769418207	missense variant	-	NC_000009.12:g.16583033T>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Lys128Thr	rs769418207	missense variant	-	NC_000009.12:g.16583033T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile129Phe	rs1197972512	missense variant	-	NC_000009.12:g.16583031T>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile129Val	rs1197972512	missense variant	-	NC_000009.12:g.16583031T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn130Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16583027T>G	NCI-TCGA
BNC2	Q6ZN30	p.Asp135Gly	rs770792169	missense variant	-	NC_000009.12:g.16583012T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Gln136Glu	rs1197152424	missense variant	-	NC_000009.12:g.16583010G>C	gnomAD
BNC2	Q6ZN30	p.Gln136Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16583009T>C	NCI-TCGA
BNC2	Q6ZN30	p.Gln136Ter	COSM4860535	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16583010G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Lys138Arg	rs888266422	missense variant	-	NC_000009.12:g.16583003T>C	TOPMed
BNC2	Q6ZN30	p.Ala143Thr	rs777603869	missense variant	-	NC_000009.12:g.16582989C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His144Arg	COSM3906364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16582985T>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ala145Ser	COSM3699624	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16582983C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Leu146Ser	rs756649517	missense variant	-	NC_000009.12:g.16552762A>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Leu146Phe	rs931043410	missense variant	-	NC_000009.12:g.16552761C>A	TOPMed
BNC2	Q6ZN30	p.Asp147Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552760C>A	NCI-TCGA
BNC2	Q6ZN30	p.Leu149Phe	rs1237819121	missense variant	-	NC_000009.12:g.16552754G>A	TOPMed
BNC2	Q6ZN30	p.Ser150Gly	rs781427509	missense variant	-	NC_000009.12:g.16552751T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr151Met	rs752429719	missense variant	-	NC_000009.12:g.16552747G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr151Met	rs752429719	missense variant	-	NC_000009.12:g.16552747G>A	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Gln152Arg	rs764934748	missense variant	-	NC_000009.12:g.16552744T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.His153Gln	rs1310620744	missense variant	-	NC_000009.12:g.16552740G>T	gnomAD
BNC2	Q6ZN30	p.His153Asn	rs1318858649	missense variant	-	NC_000009.12:g.16552742G>T	gnomAD
BNC2	Q6ZN30	p.Thr158Ile	rs144242525	missense variant	-	NC_000009.12:g.16552726G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr158Asn	COSM6182982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552726G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Gln159Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552723T>C	NCI-TCGA
BNC2	Q6ZN30	p.Gln159Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16552724G>A	NCI-TCGA
BNC2	Q6ZN30	p.Gln159Glu	rs1398613560	missense variant	-	NC_000009.12:g.16552724G>C	gnomAD
BNC2	Q6ZN30	p.Ile162Val	rs760540854	missense variant	-	NC_000009.12:g.16552715T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile162Val	rs760540854	missense variant	-	NC_000009.12:g.16552715T>C	NCI-TCGA
BNC2	Q6ZN30	p.Asn166Ser	rs946979752	missense variant	-	NC_000009.12:g.16552702T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Val167Ile	rs1346486985	missense variant	-	NC_000009.12:g.16552700C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Val167Ala	rs1162033481	missense variant	-	NC_000009.12:g.16552699A>G	gnomAD
BNC2	Q6ZN30	p.Val167Ile	rs1346486985	missense variant	-	NC_000009.12:g.16552700C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Val168Met	rs769900613	missense variant	-	NC_000009.12:g.16552697C>T	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Val168Met	rs769900613	missense variant	-	NC_000009.12:g.16552697C>T	-
BNC2	Q6ZN30	p.Ile171Val	rs1418399391	missense variant	-	NC_000009.12:g.16552688T>C	gnomAD
BNC2	Q6ZN30	p.Ser172Gly	rs912446447	missense variant	-	NC_000009.12:g.16552685T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr179Ile	rs1322401809	missense variant	-	NC_000009.12:g.16552663G>A	gnomAD
BNC2	Q6ZN30	p.Gln180Leu	COSM6115236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552660T>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ala181Thr	COSM4840820	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552658C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Pro183Ser	rs1217314388	missense variant	-	NC_000009.12:g.16552652G>A	gnomAD
BNC2	Q6ZN30	p.Pro183Leu	COSM3656353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552651G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Val184Gly	rs147332643	missense variant	-	NC_000009.12:g.16552648A>C	ESP
BNC2	Q6ZN30	p.Val184Met	rs780058802	missense variant	-	NC_000009.12:g.16552649C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Val184Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552648A>G	NCI-TCGA
BNC2	Q6ZN30	p.Val184Met	rs780058802	missense variant	-	NC_000009.12:g.16552649C>T	NCI-TCGA
BNC2	Q6ZN30	p.Arg185Trp	rs1383583504	missense variant	-	NC_000009.12:g.16552646G>A	gnomAD
BNC2	Q6ZN30	p.Arg185Trp	rs1383583504	missense variant	-	NC_000009.12:g.16552646G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg185Gln	rs746370194	missense variant	-	NC_000009.12:g.16552645C>T	NCI-TCGA
BNC2	Q6ZN30	p.Arg185Gln	rs746370194	missense variant	-	NC_000009.12:g.16552645C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu186Val	rs781698141	missense variant	-	NC_000009.12:g.16552643G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile188Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552637T>C	NCI-TCGA
BNC2	Q6ZN30	p.Ile188Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552637T>A	NCI-TCGA
BNC2	Q6ZN30	p.Leu189Met	rs201643868	missense variant	-	NC_000009.12:g.16552634G>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu189Val	rs201643868	missense variant	-	NC_000009.12:g.16552634G>C	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg192His	rs1400069723	missense variant	-	NC_000009.12:g.16552624C>T	gnomAD
BNC2	Q6ZN30	p.Leu193Val	rs148576849	missense variant	-	NC_000009.12:g.16552622G>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Phe194Leu	rs1325251267	missense variant	-	NC_000009.12:g.16552617G>C	TOPMed
BNC2	Q6ZN30	p.Phe194Ile	rs1010617431	missense variant	-	NC_000009.12:g.16552619A>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Val196Ile	rs1181349194	missense variant	-	NC_000009.12:g.16552613C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys198Glu	rs1198124561	missense variant	-	NC_000009.12:g.16552607T>C	TOPMed
BNC2	Q6ZN30	p.Glu200Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552601C>G	NCI-TCGA
BNC2	Q6ZN30	p.Glu201Lys	COSM1489876	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16552598C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Val202Leu	rs1265616963	missense variant	-	NC_000009.12:g.16552595C>A	gnomAD
BNC2	Q6ZN30	p.Val202Ile	rs1265616963	missense variant	-	NC_000009.12:g.16552595C>T	gnomAD
BNC2	Q6ZN30	p.Val202Leu	rs1265616963	missense variant	-	NC_000009.12:g.16552595C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.His204Leu	rs755609983	missense variant	-	NC_000009.12:g.16552588T>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His204Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552589G>A	NCI-TCGA
BNC2	Q6ZN30	p.Ile205Val	rs767536124	missense variant	-	NC_000009.12:g.16552586T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly208Asp	rs1229985665	missense variant	-	NC_000009.12:g.16552576C>T	gnomAD
BNC2	Q6ZN30	p.Gly208Ser	rs763866782	missense variant	-	NC_000009.12:g.16552577C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly208Asp	rs1229985665	missense variant	-	NC_000009.12:g.16552576C>T	NCI-TCGA
BNC2	Q6ZN30	p.Gly208Ser	rs763866782	missense variant	-	NC_000009.12:g.16552577C>T	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Leu209Phe	rs555540395	missense variant	-	NC_000009.12:g.16552574G>A	gnomAD
BNC2	Q6ZN30	p.Gly210Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552570C>T	NCI-TCGA
BNC2	Q6ZN30	p.Gly210Arg	rs1385852749	missense variant	-	NC_000009.12:g.16552571C>G	gnomAD
BNC2	Q6ZN30	p.Trp211Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552566C>A	NCI-TCGA
BNC2	Q6ZN30	p.Arg214Gln	rs1040504644	missense variant	-	NC_000009.12:g.16552558C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg214Trp	rs1371140412	missense variant	-	NC_000009.12:g.16552559G>A	gnomAD
BNC2	Q6ZN30	p.Asp215Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552554G>C	NCI-TCGA
BNC2	Q6ZN30	p.Arg218Gln	rs1286876952	missense variant	-	NC_000009.12:g.16552546C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly219Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16552543C>A	NCI-TCGA
BNC2	Q6ZN30	p.Gly219Ter	COSM1107512	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16552544C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ile221Val	rs1375701740	missense variant	-	NC_000009.12:g.16552538T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu222Val	rs1454841987	missense variant	-	NC_000009.12:g.16552535G>C	gnomAD
BNC2	Q6ZN30	p.Asp224Asn	rs751532939	missense variant	-	NC_000009.12:g.16437524C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala225Val	rs777641974	missense variant	-	NC_000009.12:g.16437520G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala225Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437521C>A	NCI-TCGA
BNC2	Q6ZN30	p.Ala226Thr	rs1456846165	missense variant	-	NC_000009.12:g.16437518C>T	gnomAD
BNC2	Q6ZN30	p.Gly227Ser	rs1249141804	missense variant	-	NC_000009.12:g.16437515C>T	TOPMed
BNC2	Q6ZN30	p.Gly227Asp	rs1368467597	missense variant	-	NC_000009.12:g.16437514C>T	gnomAD
BNC2	Q6ZN30	p.Lys228Arg	rs1476420100	missense variant	-	NC_000009.12:g.16437511T>C	NCI-TCGA
BNC2	Q6ZN30	p.Lys228AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.16437510_16437511insA	NCI-TCGA
BNC2	Q6ZN30	p.Lys228Arg	rs1476420100	missense variant	-	NC_000009.12:g.16437511T>C	gnomAD
BNC2	Q6ZN30	p.Arg232Leu	rs1191107098	missense variant	-	NC_000009.12:g.16437499C>A	gnomAD
BNC2	Q6ZN30	p.Arg232His	rs1191107098	missense variant	-	NC_000009.12:g.16437499C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg232Cys	rs1261443116	missense variant	-	NC_000009.12:g.16437500G>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg232His	rs1191107098	missense variant	-	NC_000009.12:g.16437499C>T	gnomAD
BNC2	Q6ZN30	p.Arg232Cys	rs1261443116	missense variant	-	NC_000009.12:g.16437500G>A	NCI-TCGA
BNC2	Q6ZN30	p.Trp233Arg	rs1474136340	missense variant	-	NC_000009.12:g.16437497A>G	gnomAD
BNC2	Q6ZN30	p.Trp233Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16437496C>T	NCI-TCGA
BNC2	Q6ZN30	p.Trp233Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437497A>T	NCI-TCGA
BNC2	Q6ZN30	p.Ile235Thr	rs1446018096	missense variant	-	NC_000009.12:g.16437490A>G	gnomAD
BNC2	Q6ZN30	p.Met236Leu	rs1206313947	missense variant	-	NC_000009.12:g.16437488T>A	gnomAD
BNC2	Q6ZN30	p.Arg238Pro	rs188643589	missense variant	-	NC_000009.12:g.16437481C>G	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg238Gln	rs188643589	missense variant	-	NC_000009.12:g.16437481C>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg238Pro	rs188643589	missense variant	-	NC_000009.12:g.16437481C>G	NCI-TCGA
BNC2	Q6ZN30	p.Thr244Ile	rs759861328	missense variant	-	NC_000009.12:g.16437463G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Leu245Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437460A>G	NCI-TCGA
BNC2	Q6ZN30	p.Gln246Ter	COSM422408	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16437458G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Gln247Glu	rs1169766092	missense variant	-	NC_000009.12:g.16437455G>C	TOPMed
BNC2	Q6ZN30	p.Phe248Leu	rs766596466	missense variant	-	NC_000009.12:g.16437450A>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Phe248Tyr	COSM3656347	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437451A>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Leu249Arg	rs760787720	missense variant	-	NC_000009.12:g.16437448A>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Leu249Met	COSM1107511	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437449G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg250Gln	rs1490299295	missense variant	-	NC_000009.12:g.16437445C>T	gnomAD
BNC2	Q6ZN30	p.Arg250Trp	COSM3906357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437446G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Phe251ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.16437443_16437444insTGGG	NCI-TCGA
BNC2	Q6ZN30	p.Gly252Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437440C>T	NCI-TCGA
BNC2	Q6ZN30	p.Ser256Cys	rs371865335	missense variant	-	NC_000009.12:g.16437427G>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser256Phe	rs371865335	missense variant	-	NC_000009.12:g.16437427G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile257Thr	rs762218331	missense variant	-	NC_000009.12:g.16437424A>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Val258Gly	COSM3656344	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437421A>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Leu260Val	rs774834108	missense variant	-	NC_000009.12:g.16437416G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile263Leu	rs768841601	missense variant	-	NC_000009.12:g.16437407T>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile263Val	rs768841601	missense variant	-	NC_000009.12:g.16437407T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala270Thr	rs910163620	missense variant	-	NC_000009.12:g.16437386C>T	TOPMed
BNC2	Q6ZN30	p.Ala270Pro	COSM6182986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437386C>G	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Val271Met	rs770455492	missense variant	-	NC_000009.12:g.16437383C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala272Ser	rs746574309	missense variant	-	NC_000009.12:g.16437380C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala272Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437379G>A	NCI-TCGA
BNC2	Q6ZN30	p.Val273Ile	rs1449421550	missense variant	-	NC_000009.12:g.16437377C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro274Ser	rs758428402	missense variant	-	NC_000009.12:g.16437374G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro274Thr	rs758428402	missense variant	-	NC_000009.12:g.16437374G>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser275Phe	rs1214276949	missense variant	-	NC_000009.12:g.16437370G>A	gnomAD
BNC2	Q6ZN30	p.Lys277Glu	rs1336792156	missense variant	-	NC_000009.12:g.16437365T>C	gnomAD
BNC2	Q6ZN30	p.Asp279Gly	rs367986409	missense variant	-	NC_000009.12:g.16437358T>C	ESP,ExAC,gnomAD
BNC2	Q6ZN30	p.Ser280Pro	COSM1246171	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437356A>G	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp281Gly	rs773379267	missense variant	-	NC_000009.12:g.16437352T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp281His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437353C>G	NCI-TCGA
BNC2	Q6ZN30	p.Ile282Lys	COSM6115239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437349A>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg283Lys	rs770005462	missense variant	-	NC_000009.12:g.16437346C>T	gnomAD
BNC2	Q6ZN30	p.Thr284Ser	rs1272200214	missense variant	-	NC_000009.12:g.16437343G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr284Ile	rs1272200214	missense variant	-	NC_000009.12:g.16437343G>A	NCI-TCGA
BNC2	Q6ZN30	p.Thr284Ile	rs1272200214	missense variant	-	NC_000009.12:g.16437343G>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Phe285Cys	rs1231298309	missense variant	-	NC_000009.12:g.16437340A>C	gnomAD
BNC2	Q6ZN30	p.Ile286Thr	rs1326605584	missense variant	-	NC_000009.12:g.16437337A>G	gnomAD
BNC2	Q6ZN30	p.Ser288Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437331C>G	NCI-TCGA
BNC2	Q6ZN30	p.Ser288Gly	rs1443771737	missense variant	-	NC_000009.12:g.16437332T>C	gnomAD
BNC2	Q6ZN30	p.Asn289Ser	rs754134440	missense variant	-	NC_000009.12:g.16437328T>C	ExAC
BNC2	Q6ZN30	p.Arg291Cys	rs1331253127	missense variant	-	NC_000009.12:g.16437323G>A	gnomAD
BNC2	Q6ZN30	p.Arg291Cys	rs1331253127	missense variant	-	NC_000009.12:g.16437323G>A	NCI-TCGA
BNC2	Q6ZN30	p.Ser296Arg	rs766756218	missense variant	-	NC_000009.12:g.16437306G>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu297Val	rs760944883	missense variant	-	NC_000009.12:g.16437305G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala299Asp	rs767479416	missense variant	-	NC_000009.12:g.16437298G>T	ExAC
BNC2	Q6ZN30	p.Ala299Pro	rs1393977124	missense variant	-	NC_000009.12:g.16437299C>G	gnomAD
BNC2	Q6ZN30	p.Ala299Thr	COSM3848190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437299C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.His300Gln	rs774656700	missense variant	-	NC_000009.12:g.16437294G>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His300Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437295T>C	NCI-TCGA
BNC2	Q6ZN30	p.Asn303Ile	rs969850076	missense variant	-	NC_000009.12:g.16437286T>A	gnomAD
BNC2	Q6ZN30	p.Asn303Ser	rs969850076	missense variant	-	NC_000009.12:g.16437286T>C	gnomAD
BNC2	Q6ZN30	p.Ser304Asn	rs1438224964	missense variant	-	NC_000009.12:g.16437283C>T	gnomAD
BNC2	Q6ZN30	p.Ser304Arg	rs1274809288	missense variant	-	NC_000009.12:g.16437282G>T	gnomAD
BNC2	Q6ZN30	p.Asn305Ser	rs763181782	missense variant	-	NC_000009.12:g.16437280T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro306Ser	rs114964332	missense variant	-	NC_000009.12:g.16437278G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro306Ala	RCV000190272	missense variant	-	NC_000009.12:g.16437278G>C	ClinVar
BNC2	Q6ZN30	p.Pro306Thr	rs114964332	missense variant	-	NC_000009.12:g.16437278G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro306Ala	rs114964332	missense variant	-	NC_000009.12:g.16437278G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser307Cys	rs1236675695	missense variant	-	NC_000009.12:g.16437274G>C	gnomAD
BNC2	Q6ZN30	p.Ser307Pro	rs770610963	missense variant	-	NC_000009.12:g.16437275A>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser308Cys	rs1421637344	missense variant	-	NC_000009.12:g.16437272T>A	TOPMed
BNC2	Q6ZN30	p.His310Arg	rs1018438598	missense variant	-	NC_000009.12:g.16437265T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.His310Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437266G>A	NCI-TCGA
BNC2	Q6ZN30	p.His311Pro	rs1171274177	missense variant	-	NC_000009.12:g.16437262T>G	TOPMed
BNC2	Q6ZN30	p.Glu313Lys	COSM3433037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437257C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ile315Phe	rs995244344	missense variant	-	NC_000009.12:g.16437251T>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro316Ser	rs771427273	missense variant	-	NC_000009.12:g.16437248G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro316Ser	rs771427273	missense variant	-	NC_000009.12:g.16437248G>A	NCI-TCGA
BNC2	Q6ZN30	p.Leu319Val	rs1406471202	missense variant	-	NC_000009.12:g.16437239G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala320Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437235G>A	NCI-TCGA
BNC2	Q6ZN30	p.Pro324Leu	COSM3656341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437223G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Phe325Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437219G>T	NCI-TCGA
BNC2	Q6ZN30	p.Ile328Met	rs377056909	missense variant	-	NC_000009.12:g.16437210T>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile328Val	rs201353309	missense variant	-	NC_000009.12:g.16437212T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile328Thr	rs370167846	missense variant	-	NC_000009.12:g.16437211A>G	ESP,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn329Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437208T>A	NCI-TCGA
BNC2	Q6ZN30	p.Pro330Leu	rs374455568	missense variant	-	NC_000009.12:g.16437205G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro330Ala	rs756458931	missense variant	-	NC_000009.12:g.16437206G>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro330Thr	rs756458931	missense variant	-	NC_000009.12:g.16437206G>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro330LeuPheSerTerUnk	COSM1461585	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16437205G>-	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Leu338Val	COSM3906354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437182A>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Pro339Ser	rs1281382565	missense variant	-	NC_000009.12:g.16437179G>A	gnomAD
BNC2	Q6ZN30	p.Pro340Arg	rs1351651525	missense variant	-	NC_000009.12:g.16437175G>C	gnomAD
BNC2	Q6ZN30	p.Pro340Ala	rs1213259401	missense variant	-	NC_000009.12:g.16437176G>C	gnomAD
BNC2	Q6ZN30	p.Pro340Gln	rs1351651525	missense variant	-	NC_000009.12:g.16437175G>T	gnomAD
BNC2	Q6ZN30	p.Asn341His	rs1213446263	missense variant	-	NC_000009.12:g.16437173T>G	TOPMed
BNC2	Q6ZN30	p.Gly342Arg	rs1167947550	missense variant	-	NC_000009.12:g.16437170C>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly342Glu	rs376110117	missense variant	-	NC_000009.12:g.16437169C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu343Val	rs764561859	missense variant	-	NC_000009.12:g.16437167G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Leu344Met	rs937371808	missense variant	-	NC_000009.12:g.16437164G>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu346Asp	rs1356483205	missense variant	-	NC_000009.12:g.16437156C>G	gnomAD
BNC2	Q6ZN30	p.Glu346Gln	rs945575406	missense variant	-	NC_000009.12:g.16437158C>G	gnomAD
BNC2	Q6ZN30	p.Pro348Ala	rs1436156781	missense variant	-	NC_000009.12:g.16437152G>C	gnomAD
BNC2	Q6ZN30	p.Pro348Arg	rs1202135144	missense variant	-	NC_000009.12:g.16437151G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro348Ser	rs1436156781	missense variant	-	NC_000009.12:g.16437152G>A	gnomAD
BNC2	Q6ZN30	p.Gly349Glu	rs760334910	missense variant	-	NC_000009.12:g.16437148C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly349Ala	rs760334910	missense variant	-	NC_000009.12:g.16437148C>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly349Val	rs760334910	missense variant	-	NC_000009.12:g.16437148C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg353Trp	rs772675068	missense variant	-	NC_000009.12:g.16437137G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg353Gln	rs771633855	missense variant	-	NC_000009.12:g.16437136C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg353Trp	rs772675068	missense variant	-	NC_000009.12:g.16437137G>A	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Glu354Lys	rs747659977	missense variant	-	NC_000009.12:g.16437134C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro355Arg	rs1257927920	missense variant	-	NC_000009.12:g.16437130G>C	gnomAD
BNC2	Q6ZN30	p.Pro355Thr	rs200506513	missense variant	-	NC_000009.12:g.16437131G>T	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Leu357Val	rs749220730	missense variant	-	NC_000009.12:g.16437125G>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser358Leu	rs780004977	missense variant	-	NC_000009.12:g.16437121G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr359Ser	rs755903868	missense variant	-	NC_000009.12:g.16437118G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Gln360His	rs190971797	missense variant	-	NC_000009.12:g.16437114C>G	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Gln360Arg	rs1318800775	missense variant	-	NC_000009.12:g.16437115T>C	gnomAD
BNC2	Q6ZN30	p.Glu362Val	rs781226354	missense variant	-	NC_000009.12:g.16437109T>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Glu362Asp	rs988615488	missense variant	-	NC_000009.12:g.16437108T>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Tyr363Asn	COSM3906351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437107A>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Glu368Lys	rs1287921241	missense variant	-	NC_000009.12:g.16437092C>T	gnomAD
BNC2	Q6ZN30	p.Glu368Lys	rs1287921241	missense variant	-	NC_000009.12:g.16437092C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Glu370Lys	rs1439738029	missense variant	-	NC_000009.12:g.16437086C>T	gnomAD
BNC2	Q6ZN30	p.Glu370Gly	rs753146632	missense variant	-	NC_000009.12:g.16437085T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro373Ser	rs765592162	missense variant	-	NC_000009.12:g.16437077G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro373Leu	rs1418336073	missense variant	-	NC_000009.12:g.16437076G>A	gnomAD
BNC2	Q6ZN30	p.Thr374Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437074T>C	NCI-TCGA
BNC2	Q6ZN30	p.Pro375His	rs759844073	missense variant	-	NC_000009.12:g.16437070G>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys377Glu	rs777030729	missense variant	-	NC_000009.12:g.16437065T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys377Arg	rs1293506461	missense variant	-	NC_000009.12:g.16437064T>C	TOPMed
BNC2	Q6ZN30	p.Lys377Gln	rs777030729	missense variant	-	NC_000009.12:g.16437065T>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr381Pro	rs1187309419	missense variant	-	NC_000009.12:g.16437053T>G	gnomAD
BNC2	Q6ZN30	p.Pro382Arg	rs761522806	missense variant	-	NC_000009.12:g.16437049G>C	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Pro382Arg	rs761522806	missense variant	-	NC_000009.12:g.16437049G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro382Ala	rs145621565	missense variant	-	NC_000009.12:g.16437050G>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn383Ser	rs140889479	missense variant	-	NC_000009.12:g.16437046T>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala386Val	rs150998148	missense variant	-	NC_000009.12:g.16437037G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu387Pro	rs769736710	missense variant	-	NC_000009.12:g.16437034A>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr388Ser	rs1214761030	missense variant	-	NC_000009.12:g.16437032T>A	gnomAD
BNC2	Q6ZN30	p.Thr391Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437022G>T	NCI-TCGA
BNC2	Q6ZN30	p.Thr391Ala	COSM1107508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16437023T>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asn392Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16437018A>C	NCI-TCGA
BNC2	Q6ZN30	p.Val393Leu	rs1322735478	missense variant	-	NC_000009.12:g.16437017C>A	gnomAD
BNC2	Q6ZN30	p.Pro395Ala	rs1190208945	missense variant	-	NC_000009.12:g.16437011G>C	TOPMed
BNC2	Q6ZN30	p.Lys396Arg	rs771130480	missense variant	-	NC_000009.12:g.16437007T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr397Pro	rs747242368	missense variant	-	NC_000009.12:g.16437005T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr397Ile	rs1395039244	missense variant	-	NC_000009.12:g.16437004G>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu398Lys	rs1281294007	missense variant	-	NC_000009.12:g.16437002C>T	gnomAD
BNC2	Q6ZN30	p.Glu398Lys	rs1281294007	missense variant	-	NC_000009.12:g.16437002C>T	NCI-TCGA
BNC2	Q6ZN30	p.Pro399Leu	rs758408200	missense variant	-	NC_000009.12:g.16436998G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro399Ser	rs1225174173	missense variant	-	NC_000009.12:g.16436999G>A	gnomAD
BNC2	Q6ZN30	p.Cys401Tyr	rs1430473969	missense variant	-	NC_000009.12:g.16436992C>T	gnomAD
BNC2	Q6ZN30	p.Cys401Arg	rs753236453	missense variant	-	NC_000009.12:g.16436993A>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Val402Leu	rs779443679	missense variant	-	NC_000009.12:g.16436990C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro404Arg	rs766749166	missense variant	-	NC_000009.12:g.16436983G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro404Ser	rs754221911	missense variant	-	NC_000009.12:g.16436984G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile405Thr	rs761382259	missense variant	-	NC_000009.12:g.16436980A>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile405Val	rs950618735	missense variant	-	NC_000009.12:g.16436981T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn407Asp	COSM3906348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436975T>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ser408Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436971G>T	NCI-TCGA
BNC2	Q6ZN30	p.Ala409Val	rs143576449	missense variant	-	NC_000009.12:g.16436968G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala409Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436969C>T	NCI-TCGA
BNC2	Q6ZN30	p.Pro410Leu	rs868283716	missense variant	-	NC_000009.12:g.16436965G>A	TOPMed
BNC2	Q6ZN30	p.Val411Phe	rs763726219	missense variant	-	NC_000009.12:g.16436963C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp413Val	rs762506868	missense variant	-	NC_000009.12:g.16436956T>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp413His	rs976987970	missense variant	-	NC_000009.12:g.16436957C>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp413Asn	rs976987970	missense variant	-	NC_000009.12:g.16436957C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu414Val	rs148873573	missense variant	-	NC_000009.12:g.16436954G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu414Val	RCV000190256	missense variant	-	NC_000009.12:g.16436954G>C	ClinVar
BNC2	Q6ZN30	p.Thr415Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436951T>C	NCI-TCGA
BNC2	Q6ZN30	p.Thr415Ile	rs144281264	missense variant	-	NC_000009.12:g.16436950G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys416Glu	rs770702140	missense variant	-	NC_000009.12:g.16436948T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr417Ala	rs1463728630	missense variant	-	NC_000009.12:g.16436945T>C	gnomAD
BNC2	Q6ZN30	p.Thr417Ser	rs747202089	missense variant	-	NC_000009.12:g.16436944G>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys421Glu	rs772258371	missense variant	-	NC_000009.12:g.16436933T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Phe424Ile	rs1180322693	missense variant	-	NC_000009.12:g.16436924A>T	gnomAD
BNC2	Q6ZN30	p.Phe424Leu	rs1418950993	missense variant	-	NC_000009.12:g.16436922G>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Phe424Leu	rs1418950993	missense variant	-	NC_000009.12:g.16436922G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg425Gly	rs373427796	missense variant	-	NC_000009.12:g.16436921G>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg425Gln	rs754309176	missense variant	-	NC_000009.12:g.16436920C>T	NCI-TCGA
BNC2	Q6ZN30	p.Arg425Leu	rs754309176	missense variant	-	NC_000009.12:g.16436920C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg425Trp	rs373427796	missense variant	-	NC_000009.12:g.16436921G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg425Gln	rs754309176	missense variant	-	NC_000009.12:g.16436920C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His427Arg	rs1031974425	missense variant	-	NC_000009.12:g.16436914T>C	TOPMed
BNC2	Q6ZN30	p.Arg428Trp	rs756459154	missense variant	-	NC_000009.12:g.16436912G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg428Gln	rs751190675	missense variant	-	NC_000009.12:g.16436911C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg428Trp	rs756459154	missense variant	-	NC_000009.12:g.16436912G>A	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Met429Ile	rs116000575	missense variant	-	NC_000009.12:g.16436907C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met429Ile	rs116000575	missense variant	-	NC_000009.12:g.16436907C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg430Gly	rs1281782667	missense variant	-	NC_000009.12:g.16436906T>C	gnomAD
BNC2	Q6ZN30	p.Arg430Thr	rs1236808792	missense variant	-	NC_000009.12:g.16436905C>G	gnomAD
BNC2	Q6ZN30	p.Arg431Thr	rs1393763913	missense variant	-	NC_000009.12:g.16436902C>G	TOPMed
BNC2	Q6ZN30	p.Met432Ile	rs368914032	missense variant	-	NC_000009.12:g.16436898C>G	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met432Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436898C>T	NCI-TCGA
BNC2	Q6ZN30	p.Met432Ile	rs368914032	missense variant	-	NC_000009.12:g.16436898C>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly433Arg	COSM1461580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436897C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ser434Pro	rs1392982973	missense variant	-	NC_000009.12:g.16436894A>G	gnomAD
BNC2	Q6ZN30	p.Ala435Asp	rs1395145353	missense variant	-	NC_000009.12:g.16436890G>T	TOPMed
BNC2	Q6ZN30	p.Arg437Lys	rs1330455414	missense variant	-	NC_000009.12:g.16436884C>T	TOPMed
BNC2	Q6ZN30	p.Lys438Glu	rs894943184	missense variant	-	NC_000009.12:g.16436882T>C	TOPMed
BNC2	Q6ZN30	p.Gly439Glu	COSM3656338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436878C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg440Ter	rs759406212	stop gained	-	NC_000009.12:g.16436876T>A	ExAC
BNC2	Q6ZN30	p.Cys443Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436866C>G	NCI-TCGA
BNC2	Q6ZN30	p.Gly447Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436854C>T	NCI-TCGA
BNC2	Q6ZN30	p.Gly454Ser	COSM5895986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436834C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.His459Tyr	COSM4831945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436819G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Tyr460Ter	COSM3906345	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436814G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ala462Gly	rs888454800	missense variant	-	NC_000009.12:g.16436809G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys466Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436796C>A	NCI-TCGA
BNC2	Q6ZN30	p.His469Tyr	rs1212933554	missense variant	-	NC_000009.12:g.16436789G>A	TOPMed
BNC2	Q6ZN30	p.Arg470Gly	rs774427355	missense variant	-	NC_000009.12:g.16436786G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg470Pro	COSM4818214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436785C>G	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg470Ter	COSM3656335	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436786G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Cys471Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436782C>A	NCI-TCGA
BNC2	Q6ZN30	p.Ile473Phe	rs375894546	missense variant	-	NC_000009.12:g.16436777T>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile473Val	rs375894546	missense variant	-	NC_000009.12:g.16436777T>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Cys476Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16436766G>T	NCI-TCGA
BNC2	Q6ZN30	p.Ser481Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436753T>A	NCI-TCGA
BNC2	Q6ZN30	p.Arg484Ter	COSM1107507	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436744G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg484Gln	COSM4392114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436743C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg486His	COSM1319618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436737C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg488Cys	COSM1107506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436732G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ser490Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436725C>A	NCI-TCGA
BNC2	Q6ZN30	p.Ala491Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436722G>C	NCI-TCGA
BNC2	Q6ZN30	p.Met499Ile	rs530979241	missense variant	-	NC_000009.12:g.16436697C>G	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Met499Leu	rs543653991	missense variant	-	NC_000009.12:g.16436699T>A	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Pro500Ser	rs752343912	missense variant	-	NC_000009.12:g.16436696G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Met501Val	rs369931579	missense variant	-	NC_000009.12:g.16436693T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met501Thr	rs1474130756	missense variant	-	NC_000009.12:g.16436692A>G	TOPMed
BNC2	Q6ZN30	p.Met501Thr	rs1474130756	missense variant	-	NC_000009.12:g.16436692A>G	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Met501IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.16436691_16436692insATAG	NCI-TCGA
BNC2	Q6ZN30	p.Arg506Gln	rs760522381	missense variant	-	NC_000009.12:g.16436677C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg506Leu	rs760522381	missense variant	-	NC_000009.12:g.16436677C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg506Ter	COSM288187	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436678G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Lys508Glu	rs935734633	missense variant	-	NC_000009.12:g.16436672T>C	gnomAD
BNC2	Q6ZN30	p.Asp509Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436667A>C	NCI-TCGA
BNC2	Q6ZN30	p.Arg512Gln	rs767237156	missense variant	-	NC_000009.12:g.16436659C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg512Trp	rs773045476	missense variant	-	NC_000009.12:g.16436660G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg512Trp	rs773045476	missense variant	-	NC_000009.12:g.16436660G>A	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ala513Val	rs1312658418	missense variant	-	NC_000009.12:g.16436656G>A	gnomAD
BNC2	Q6ZN30	p.Thr514Ile	rs1166022495	missense variant	-	NC_000009.12:g.16436653G>A	gnomAD
BNC2	Q6ZN30	p.Ala517Gly	rs1190553238	missense variant	-	NC_000009.12:g.16436644G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala517Val	rs1190553238	missense variant	-	NC_000009.12:g.16436644G>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala518Pro	rs377315626	missense variant	-	NC_000009.12:g.16436642C>G	ESP,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala518Val	rs1318800426	missense variant	-	NC_000009.12:g.16436641G>A	TOPMed
BNC2	Q6ZN30	p.Ala518Val	rs1318800426	missense variant	-	NC_000009.12:g.16436641G>A	NCI-TCGA
BNC2	Q6ZN30	p.Ala518Thr	COSM3375203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436642C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Thr519Ser	rs1445959590	missense variant	-	NC_000009.12:g.16436638G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro520Ser	rs1210859066	missense variant	-	NC_000009.12:g.16436636G>A	TOPMed
BNC2	Q6ZN30	p.Ile522Val	rs1261607966	missense variant	-	NC_000009.12:g.16436630T>C	TOPMed
BNC2	Q6ZN30	p.Ile522Thr	rs1445809452	missense variant	-	NC_000009.12:g.16436629A>G	TOPMed
BNC2	Q6ZN30	p.Ala523Thr	COSM6182989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436627C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Thr525Ile	rs1261762457	missense variant	-	NC_000009.12:g.16436620G>A	gnomAD
BNC2	Q6ZN30	p.Lys526Arg	rs775403236	missense variant	-	NC_000009.12:g.16436617T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Lys526Glu	rs749432606	missense variant	-	NC_000009.12:g.16436618T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu529Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436609G>T	NCI-TCGA
BNC2	Q6ZN30	p.Ala530Ser	rs770399663	missense variant	-	NC_000009.12:g.16436606C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala530Thr	rs770399663	missense variant	-	NC_000009.12:g.16436606C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr532Lys	rs879473402	missense variant	-	NC_000009.12:g.16436599G>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr532Arg	rs879473402	missense variant	-	NC_000009.12:g.16436599G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg536Gln	rs376354558	missense variant	-	NC_000009.12:g.16436587C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg536Leu	rs376354558	missense variant	-	NC_000009.12:g.16436587C>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg536Gln	rs376354558	missense variant	-	NC_000009.12:g.16436587C>T	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg536Ter	COSM3906342	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436588G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Pro537Ser	rs1327126618	missense variant	-	NC_000009.12:g.16436585G>A	gnomAD
BNC2	Q6ZN30	p.Met539Val	rs747837768	missense variant	-	NC_000009.12:g.16436579T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met539Arg	rs966350992	missense variant	-	NC_000009.12:g.16436578A>C	TOPMed
BNC2	Q6ZN30	p.Gly540Asp	rs778582159	missense variant	-	NC_000009.12:g.16436575C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr542Ala	rs372363444	missense variant	-	NC_000009.12:g.16436570T>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr542Ser	rs372363444	missense variant	-	NC_000009.12:g.16436570T>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr542Ile	rs1026119758	missense variant	-	NC_000009.12:g.16436569G>A	TOPMed
BNC2	Q6ZN30	p.Thr543Ile	rs765789866	missense variant	-	NC_000009.12:g.16436566G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr543Ala	rs1463393209	missense variant	-	NC_000009.12:g.16436567T>C	gnomAD
BNC2	Q6ZN30	p.Pro544Leu	rs1165827230	missense variant	-	NC_000009.12:g.16436563G>A	gnomAD
BNC2	Q6ZN30	p.Pro545Ser	rs368368580	missense variant	-	NC_000009.12:g.16436561G>A	1000Genomes,ESP,ExAC,gnomAD
BNC2	Q6ZN30	p.Pro545LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.16436560G>-	NCI-TCGA
BNC2	Q6ZN30	p.Pro545His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436560G>T	NCI-TCGA
BNC2	Q6ZN30	p.Pro545Arg	rs761546676	missense variant	-	NC_000009.12:g.16436560G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro545Ala	rs368368580	missense variant	-	NC_000009.12:g.16436561G>C	1000Genomes,ESP,ExAC,gnomAD
BNC2	Q6ZN30	p.Leu546Val	rs1452027681	missense variant	-	NC_000009.12:g.16436558G>C	gnomAD
BNC2	Q6ZN30	p.Leu546Pro	rs1252362081	missense variant	-	NC_000009.12:g.16436557A>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro548Arg	rs751332295	missense variant	-	NC_000009.12:g.16436551G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro548Ser	rs1157375825	missense variant	-	NC_000009.12:g.16436552G>A	gnomAD
BNC2	Q6ZN30	p.Val549Ala	rs1245939843	missense variant	-	NC_000009.12:g.16436548A>G	TOPMed
BNC2	Q6ZN30	p.Leu550Val	rs4961490	missense variant	-	NC_000009.12:g.16436546A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln551His	rs763083458	missense variant	-	NC_000009.12:g.16436541T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Gln551His	rs763083458	missense variant	-	NC_000009.12:g.16436541T>G	NCI-TCGA
BNC2	Q6ZN30	p.Pro553Leu	rs775698887	missense variant	-	NC_000009.12:g.16436536G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro553Ser	COSM3656332	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436537G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Leu554Pro	rs1017712544	missense variant	-	NC_000009.12:g.16436533A>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu554His	rs1017712544	missense variant	-	NC_000009.12:g.16436533A>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro555Arg	rs769704765	missense variant	-	NC_000009.12:g.16436530G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser556Arg	rs1287447161	missense variant	-	NC_000009.12:g.16436526G>C	TOPMed
BNC2	Q6ZN30	p.Gln557Pro	rs745376862	missense variant	-	NC_000009.12:g.16436524T>G	TOPMed
BNC2	Q6ZN30	p.Ser561Cys	rs888570705	missense variant	-	NC_000009.12:g.16436512G>C	TOPMed
BNC2	Q6ZN30	p.Gly562Arg	rs1409010787	missense variant	-	NC_000009.12:g.16436510C>T	gnomAD
BNC2	Q6ZN30	p.Gly562Glu	rs1396847050	missense variant	-	NC_000009.12:g.16436509C>T	gnomAD
BNC2	Q6ZN30	p.Lys564Arg	rs1170080533	missense variant	-	NC_000009.12:g.16436503T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Val566Ile	rs771448431	missense variant	-	NC_000009.12:g.16436498C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln567His	rs747429593	missense variant	-	NC_000009.12:g.16436493T>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro568Arg	rs777992590	missense variant	-	NC_000009.12:g.16436491G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro568Ser	rs1478936341	missense variant	-	NC_000009.12:g.16436492G>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Val569Ile	rs1438172570	missense variant	-	NC_000009.12:g.16436489C>T	gnomAD
BNC2	Q6ZN30	p.Pro570Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436485G>A	NCI-TCGA
BNC2	Q6ZN30	p.Tyr573Cys	rs201584429	missense variant	-	NC_000009.12:g.16436476T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Tyr573Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16436475A>C	NCI-TCGA
BNC2	Q6ZN30	p.Tyr573Phe	rs201584429	missense variant	-	NC_000009.12:g.16436476T>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg574Lys	rs755581101	missense variant	-	NC_000009.12:g.16436473C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg574Gly	COSM3375200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436474T>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg574Thr	rs755581101	missense variant	-	NC_000009.12:g.16436473C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser575Arg	rs1374823674	missense variant	-	NC_000009.12:g.16436471T>G	TOPMed
BNC2	Q6ZN30	p.Ser575Arg	rs1374823674	missense variant	-	NC_000009.12:g.16436471T>G	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ser575Ile	COSM3906337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436470C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Leu576Ser	rs1434147342	missense variant	-	NC_000009.12:g.16436467A>G	TOPMed
BNC2	Q6ZN30	p.Pro579Leu	rs750382458	missense variant	-	NC_000009.12:g.16436458G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly580Trp	rs483353012	missense variant	-	NC_000009.12:g.16436456C>A	gnomAD
BNC2	Q6ZN30	p.Gly580Arg	RCV000190259	missense variant	-	NC_000009.12:g.16436456C>T	ClinVar
BNC2	Q6ZN30	p.Gly580Arg	rs483353012	missense variant	-	NC_000009.12:g.16436456C>T	gnomAD
BNC2	Q6ZN30	p.Glu581Gly	rs1279480581	missense variant	-	NC_000009.12:g.16436452T>C	gnomAD
BNC2	Q6ZN30	p.Glu581Asp	rs1443455127	missense variant	-	NC_000009.12:g.16436451T>G	gnomAD
BNC2	Q6ZN30	p.Glu581Lys	COSM3656329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436453C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Met582Val	rs897119800	missense variant	-	NC_000009.12:g.16436450T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Val583Met	rs781155581	missense variant	-	NC_000009.12:g.16436447C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Val583Leu	rs781155581	missense variant	-	NC_000009.12:g.16436447C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro586Leu	rs1173643481	missense variant	-	NC_000009.12:g.16436437G>A	gnomAD
BNC2	Q6ZN30	p.Pro586Ser	rs751439598	missense variant	-	NC_000009.12:g.16436438G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr587Ala	rs141541187	missense variant	-	NC_000009.12:g.16436435T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr587Ser	rs1405776484	missense variant	-	NC_000009.12:g.16436434G>C	gnomAD
BNC2	Q6ZN30	p.Thr587Ala	rs141541187	missense variant	-	NC_000009.12:g.16436435T>C	NCI-TCGA
BNC2	Q6ZN30	p.Ser588Cys	rs1470415161	missense variant	-	NC_000009.12:g.16436431G>C	gnomAD
BNC2	Q6ZN30	p.Leu589Phe	rs1306656977	missense variant	-	NC_000009.12:g.16436429G>A	TOPMed
BNC2	Q6ZN30	p.Thr591Asn	COSM4858976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436422G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Pro593Arg	rs944250942	missense variant	-	NC_000009.12:g.16436416G>C	TOPMed
BNC2	Q6ZN30	p.Pro593Leu	rs944250942	missense variant	-	NC_000009.12:g.16436416G>A	TOPMed
BNC2	Q6ZN30	p.Ile594Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436413A>G	NCI-TCGA
BNC2	Q6ZN30	p.Pro596Ser	rs1258317874	missense variant	-	NC_000009.12:g.16436408G>A	gnomAD
BNC2	Q6ZN30	p.Thr597Ile	rs1347827109	missense variant	-	NC_000009.12:g.16436404G>A	TOPMed
BNC2	Q6ZN30	p.Ser598Arg	rs1212412536	missense variant	-	NC_000009.12:g.16436400A>T	gnomAD
BNC2	Q6ZN30	p.Gly599Ala	rs911404474	missense variant	-	NC_000009.12:g.16436398C>G	TOPMed
BNC2	Q6ZN30	p.Gly599Ser	rs1315184972	missense variant	-	NC_000009.12:g.16436399C>T	gnomAD
BNC2	Q6ZN30	p.Ile601Val	rs148257304	missense variant	-	NC_000009.12:g.16436393T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile601Thr	rs367562679	missense variant	-	NC_000009.12:g.16436392A>G	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu602Gly	rs1194867325	missense variant	-	NC_000009.12:g.16436389T>C	TOPMed
BNC2	Q6ZN30	p.His604Gln	rs936836401	missense variant	-	NC_000009.12:g.16436382G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro605Ala	rs1231082021	missense variant	-	NC_000009.12:g.16436381G>C	gnomAD
BNC2	Q6ZN30	p.Pro606Leu	rs116528562	missense variant	-	NC_000009.12:g.16436377G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro606Ser	rs1354503587	missense variant	-	NC_000009.12:g.16436378G>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro606ArgPheSerTerUnk	COSM1461579	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436377G>-	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Pro607AlaPheSerTerUnk	COSM4665904	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436376_16436377insG	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ala615Thr	rs1317600547	missense variant	-	NC_000009.12:g.16436351C>T	gnomAD
BNC2	Q6ZN30	p.Met617Val	rs1360975611	missense variant	-	NC_000009.12:g.16436345T>C	TOPMed
BNC2	Q6ZN30	p.Met617Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436343C>A	NCI-TCGA
BNC2	Q6ZN30	p.Met617Ile	rs773636277	missense variant	-	NC_000009.12:g.16436343C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met618Ile	rs772254961	missense variant	-	NC_000009.12:g.16436340C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Met618Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436341A>T	NCI-TCGA
BNC2	Q6ZN30	p.Ala619Val	rs1396038182	missense variant	-	NC_000009.12:g.16436338G>A	gnomAD
BNC2	Q6ZN30	p.Thr620Ile	rs748997655	missense variant	-	NC_000009.12:g.16436335G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.His621Arg	rs1484956889	missense variant	-	NC_000009.12:g.16436332T>C	gnomAD
BNC2	Q6ZN30	p.His621Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436332T>A	NCI-TCGA
BNC2	Q6ZN30	p.His621Tyr	rs779522917	missense variant	-	NC_000009.12:g.16436333G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Glu622Gln	rs1361946699	missense variant	-	NC_000009.12:g.16436330C>G	gnomAD
BNC2	Q6ZN30	p.Glu622Gly	rs374346024	missense variant	-	NC_000009.12:g.16436329T>C	ESP,ExAC,gnomAD
BNC2	Q6ZN30	p.Pro623Ala	rs1217159961	missense variant	-	NC_000009.12:g.16436327G>C	gnomAD
BNC2	Q6ZN30	p.Pro623Ala	rs1217159961	missense variant	-	NC_000009.12:g.16436327G>C	NCI-TCGA
BNC2	Q6ZN30	p.Pro623His	rs114596065	missense variant	-	NC_000009.12:g.16436326G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro623His	RCV000202740	missense variant	-	NC_000009.12:g.16436326G>T	ClinVar
BNC2	Q6ZN30	p.Pro623Ser	COSM1107505	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436327G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ser624Asn	rs780677421	missense variant	-	NC_000009.12:g.16436323C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser624MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.16436323C>-	NCI-TCGA
BNC2	Q6ZN30	p.Ser624Thr	rs780677421	missense variant	-	NC_000009.12:g.16436323C>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala625Asp	rs966384737	missense variant	-	NC_000009.12:g.16436320G>T	TOPMed
BNC2	Q6ZN30	p.Ala625Thr	rs757244735	missense variant	-	NC_000009.12:g.16436321C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp626Gly	rs1163290198	missense variant	-	NC_000009.12:g.16436317T>C	gnomAD
BNC2	Q6ZN30	p.Ala628Thr	rs1312246543	missense variant	-	NC_000009.12:g.16436312C>T	TOPMed
BNC2	Q6ZN30	p.Lys630Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436305T>A	NCI-TCGA
BNC2	Q6ZN30	p.Lys630Asn	COSM1461578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436304C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Pro633Ser	rs370281658	missense variant	-	NC_000009.12:g.16436297G>A	ESP,gnomAD
BNC2	Q6ZN30	p.Pro633AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.16436298_16436299insT	NCI-TCGA
BNC2	Q6ZN30	p.Ser636Thr	rs1359284527	missense variant	-	NC_000009.12:g.16436288A>T	gnomAD
BNC2	Q6ZN30	p.Met638Leu	rs758092172	missense variant	-	NC_000009.12:g.16436282T>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro639Ser	COSM3656325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436279G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Lys641Arg	rs752988917	missense variant	-	NC_000009.12:g.16436272T>C	ExAC,TOPMed
BNC2	Q6ZN30	p.Glu643Gln	rs1390825147	missense variant	-	NC_000009.12:g.16436267C>G	gnomAD
BNC2	Q6ZN30	p.Lys644Thr	rs1165658276	missense variant	-	NC_000009.12:g.16436263T>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu645Gly	rs1467033248	missense variant	-	NC_000009.12:g.16436260T>C	TOPMed
BNC2	Q6ZN30	p.Ile647Thr	rs754026235	missense variant	-	NC_000009.12:g.16436254A>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile647Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436254A>T	NCI-TCGA
BNC2	Q6ZN30	p.Thr649Ser	rs1426911448	missense variant	-	NC_000009.12:g.16436248G>C	gnomAD
BNC2	Q6ZN30	p.Ala650Thr	rs138108118	missense variant	-	NC_000009.12:g.16436246C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala650Thr	rs138108118	missense variant	-	NC_000009.12:g.16436246C>T	NCI-TCGA
BNC2	Q6ZN30	p.Ala650Val	COSM1107504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436245G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp651Asn	rs767945913	missense variant	-	NC_000009.12:g.16436243C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp651Asn	rs767945913	missense variant	-	NC_000009.12:g.16436243C>T	NCI-TCGA
BNC2	Q6ZN30	p.Asp651Ala	rs1213581166	missense variant	-	NC_000009.12:g.16436242T>G	gnomAD
BNC2	Q6ZN30	p.Glu652Asp	rs1467393049	missense variant	-	NC_000009.12:g.16436238C>A	TOPMed
BNC2	Q6ZN30	p.Asp655Asn	rs1263660491	missense variant	-	NC_000009.12:g.16436231C>T	gnomAD
BNC2	Q6ZN30	p.Glu656Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436226T>G	NCI-TCGA
BNC2	Q6ZN30	p.Glu656Gly	rs368601490	missense variant	-	NC_000009.12:g.16436227T>C	ESP,TOPMed
BNC2	Q6ZN30	p.Glu656Lys	COSM4846474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436228C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp658Val	rs774745887	missense variant	-	NC_000009.12:g.16436221T>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp658Gly	rs774745887	missense variant	-	NC_000009.12:g.16436221T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp658His	rs150371741	missense variant	-	NC_000009.12:g.16436222C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp658Asn	COSM455713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436222C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp659Gly	rs1305338756	missense variant	-	NC_000009.12:g.16436218T>C	gnomAD
BNC2	Q6ZN30	p.Pro660Ser	rs769500814	missense variant	-	NC_000009.12:g.16436216G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro660Arg	rs1228569705	missense variant	-	NC_000009.12:g.16436215G>C	gnomAD
BNC2	Q6ZN30	p.Pro660Thr	COSM6115248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436216G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asn661Ile	rs1440026546	missense variant	-	NC_000009.12:g.16436212T>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn661Asp	rs776133807	missense variant	-	NC_000009.12:g.16436213T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Asn661Ser	rs1440026546	missense variant	-	NC_000009.12:g.16436212T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly663Asp	rs374603135	missense variant	-	NC_000009.12:g.16436206C>T	ESP
BNC2	Q6ZN30	p.Gly664Val	rs770361843	missense variant	-	NC_000009.12:g.16436203C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala665Val	rs746999145	missense variant	-	NC_000009.12:g.16436200G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Val667Ile	rs138848086	missense variant	-	NC_000009.12:g.16436195C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn668Ser	rs141312504	missense variant	-	NC_000009.12:g.16436191T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp669Tyr	rs778850296	missense variant	-	NC_000009.12:g.16436189C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp669Asn	rs778850296	missense variant	-	NC_000009.12:g.16436189C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp669Glu	rs755261556	missense variant	-	NC_000009.12:g.16436187G>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met670Thr	rs1393308111	missense variant	-	NC_000009.12:g.16436185A>G	gnomAD
BNC2	Q6ZN30	p.Met670Leu	rs1215389123	missense variant	-	NC_000009.12:g.16436186T>G	TOPMed
BNC2	Q6ZN30	p.Ser671Asn	rs754044392	missense variant	-	NC_000009.12:g.16436182C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His672Arg	rs910634492	missense variant	-	NC_000009.12:g.16436179T>C	gnomAD
BNC2	Q6ZN30	p.Asn674Ile	rs756094132	missense variant	-	NC_000009.12:g.16436173T>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Asn674Ser	rs756094132	missense variant	-	NC_000009.12:g.16436173T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Asn674Thr	rs756094132	missense variant	-	NC_000009.12:g.16436173T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Cys676Phe	rs1175913164	missense variant	-	NC_000009.12:g.16436167C>A	gnomAD
BNC2	Q6ZN30	p.Glu680Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16436156C>A	NCI-TCGA
BNC2	Q6ZN30	p.Glu680Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436156C>T	NCI-TCGA
BNC2	Q6ZN30	p.Glu681Ter	rs1205386686	stop gained	-	NC_000009.12:g.16436153C>A	gnomAD
BNC2	Q6ZN30	p.Met682Val	rs774757602	missense variant	-	NC_000009.12:g.16436150T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Met682Leu	rs774757602	missense variant	-	NC_000009.12:g.16436150T>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser683Arg	rs543567537	missense variant	-	NC_000009.12:g.16436145G>C	gnomAD
BNC2	Q6ZN30	p.Pro684Leu	rs138187836	missense variant	-	NC_000009.12:g.16436143G>A	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Pro684Leu	RCV000190262	missense variant	-	NC_000009.12:g.16436143G>A	ClinVar
BNC2	Q6ZN30	p.Gly685Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436140C>A	NCI-TCGA
BNC2	Q6ZN30	p.Met686Leu	rs1312633813	missense variant	-	NC_000009.12:g.16436138T>G	gnomAD
BNC2	Q6ZN30	p.Met686Thr	rs759193154	missense variant	-	NC_000009.12:g.16436137A>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser687Phe	rs1389509644	missense variant	-	NC_000009.12:g.16436134G>A	gnomAD
BNC2	Q6ZN30	p.Ser687Tyr	COSM1107503	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436134G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp690Glu	rs145916043	missense variant	-	NC_000009.12:g.16436124G>C	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Phe691Leu	COSM3906333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436123A>G	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.His694Tyr	rs746554158	missense variant	-	NC_000009.12:g.16436114G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.His694Leu	rs772749729	missense variant	-	NC_000009.12:g.16436113T>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg696Ser	rs142074144	missense variant	-	NC_000009.12:g.16436106C>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg698Gln	rs548745485	missense variant	-	NC_000009.12:g.16436101C>T	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg698Gln	rs548745485	missense variant	-	NC_000009.12:g.16436101C>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg698Trp	rs563758282	missense variant	-	NC_000009.12:g.16436102G>A	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Cys699Tyr	rs780471485	missense variant	-	NC_000009.12:g.16436098C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile700Leu	rs200810383	missense variant	-	NC_000009.12:g.16436096T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg702Lys	rs1008222401	missense variant	-	NC_000009.12:g.16436089C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr703Ala	rs1483798655	missense variant	-	NC_000009.12:g.16436087T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu704Asp	rs1199446060	missense variant	-	NC_000009.12:g.16436082T>G	gnomAD
BNC2	Q6ZN30	p.Glu704Gly	rs750532979	missense variant	-	NC_000009.12:g.16436083T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg706Gly	rs781317873	missense variant	-	NC_000009.12:g.16436078T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg706Ser	rs1257731791	missense variant	-	NC_000009.12:g.16436076C>A	gnomAD
BNC2	Q6ZN30	p.Arg707Lys	rs372768243	missense variant	-	NC_000009.12:g.16436074C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala708Thr	rs530094980	missense variant	-	NC_000009.12:g.16436072C>T	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Asp709Asn	rs890056375	missense variant	-	NC_000009.12:g.16436069C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp709Gly	rs1400145004	missense variant	-	NC_000009.12:g.16436068T>C	TOPMed
BNC2	Q6ZN30	p.Met711Leu	rs1292272828	missense variant	-	NC_000009.12:g.16436063T>A	TOPMed
BNC2	Q6ZN30	p.Thr712Ser	rs1010000491	missense variant	-	NC_000009.12:g.16436060T>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp715His	rs1229779742	missense variant	-	NC_000009.12:g.16436051C>G	TOPMed
BNC2	Q6ZN30	p.Glu717Gly	rs1316201793	missense variant	-	NC_000009.12:g.16436044T>C	TOPMed
BNC2	Q6ZN30	p.Glu717Ter	COSM1107502	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16436045C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Glu717Lys	COSM3906329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436045C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Pro718Arg	rs753040555	missense variant	-	NC_000009.12:g.16436041G>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu719Gly	rs1396721491	missense variant	-	NC_000009.12:g.16436038T>C	gnomAD
BNC2	Q6ZN30	p.Arg720Trp	rs751961896	missense variant	-	NC_000009.12:g.16436036G>A	TOPMed
BNC2	Q6ZN30	p.Arg720Trp	rs751961896	missense variant	-	NC_000009.12:g.16436036G>A	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg720Gln	rs147575972	missense variant	-	NC_000009.12:g.16436035C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp721Glu	rs181340855	missense variant	-	NC_000009.12:g.16436031G>C	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Tyr722Cys	rs1453613289	missense variant	-	NC_000009.12:g.16436029T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn724Tyr	rs1257022477	missense variant	-	NC_000009.12:g.16436024T>A	TOPMed
BNC2	Q6ZN30	p.Glu725Lys	rs142534651	missense variant	-	NC_000009.12:g.16436021C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu725Asp	rs761871271	missense variant	-	NC_000009.12:g.16436019C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser726Phe	rs1414988476	missense variant	-	NC_000009.12:g.16436017G>A	TOPMed
BNC2	Q6ZN30	p.Glu727Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436015C>G	NCI-TCGA
BNC2	Q6ZN30	p.Glu727Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16436014T>A	NCI-TCGA
BNC2	Q6ZN30	p.Glu727Gly	COSM3906322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16436014T>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ser729Leu	rs565251984	missense variant	-	NC_000009.12:g.16436008G>A	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser729Leu	rs565251984	missense variant	-	NC_000009.12:g.16436008G>A	NCI-TCGA,NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Glu730Asp	rs749135029	missense variant	-	NC_000009.12:g.16436004C>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys732Arg	rs779990518	missense variant	-	NC_000009.12:g.16435999T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys732Ile	rs779990518	missense variant	-	NC_000009.12:g.16435999T>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly734Cys	COSM3375196	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435994C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Glu735Lys	rs945086064	missense variant	-	NC_000009.12:g.16435991C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu735Lys	rs945086064	missense variant	-	NC_000009.12:g.16435991C>T	NCI-TCGA
BNC2	Q6ZN30	p.Glu735Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16435991C>A	NCI-TCGA
BNC2	Q6ZN30	p.Glu736Lys	rs1449779715	missense variant	-	NC_000009.12:g.16435988C>T	TOPMed
BNC2	Q6ZN30	p.Ser737Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435984G>A	NCI-TCGA
BNC2	Q6ZN30	p.Ser737Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435984G>C	NCI-TCGA
BNC2	Q6ZN30	p.Met738Val	rs200487882	missense variant	-	NC_000009.12:g.16435982T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly740Glu	rs757321212	missense variant	-	NC_000009.12:g.16435975C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Gly740Trp	rs1221908740	missense variant	-	NC_000009.12:g.16435976C>A	TOPMed
BNC2	Q6ZN30	p.Asp741Asn	rs554243088	missense variant	-	NC_000009.12:g.16435973C>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp741Glu	rs1245740622	missense variant	-	NC_000009.12:g.16435971A>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.His743Asn	rs1342364040	missense variant	-	NC_000009.12:g.16435967G>T	gnomAD
BNC2	Q6ZN30	p.His743Leu	rs992273013	missense variant	-	NC_000009.12:g.16435966T>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.His743Arg	rs992273013	missense variant	-	NC_000009.12:g.16435966T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile744Thr	rs1382161679	missense variant	-	NC_000009.12:g.16435963A>G	gnomAD
BNC2	Q6ZN30	p.His745Asp	rs1390104334	missense variant	-	NC_000009.12:g.16435961G>C	gnomAD
BNC2	Q6ZN30	p.Ser746Arg	rs186911225	missense variant	-	NC_000009.12:g.16435956G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu747Lys	rs535983413	missense variant	-	NC_000009.12:g.16435955C>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu747Lys	rs535983413	missense variant	-	NC_000009.12:g.16435955C>T	NCI-TCGA
BNC2	Q6ZN30	p.Val748Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435951A>G	NCI-TCGA
BNC2	Q6ZN30	p.Ser749Ile	rs376503664	missense variant	-	NC_000009.12:g.16435948C>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser749Asn	COSM3906318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435948C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Glu750Gly	rs1480500104	missense variant	-	NC_000009.12:g.16435945T>C	TOPMed
BNC2	Q6ZN30	p.Val752Gly	rs750050233	missense variant	-	NC_000009.12:g.16435939A>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Val752Ile	rs1056762405	missense variant	-	NC_000009.12:g.16435940C>T	TOPMed
BNC2	Q6ZN30	p.Leu753Pro	rs766954279	missense variant	-	NC_000009.12:g.16435936A>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Met754Ile	rs761454777	missense variant	-	NC_000009.12:g.16435932C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Asn755Lys	rs768780539	missense variant	-	NC_000009.12:g.16435929A>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn755Thr	rs773966394	missense variant	-	NC_000009.12:g.16435930T>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser756Asn	rs762968980	missense variant	-	NC_000009.12:g.16435927C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg758Lys	rs775161242	missense variant	-	NC_000009.12:g.16435921C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro759Ser	rs1210673164	missense variant	-	NC_000009.12:g.16435919G>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp760Val	rs769566701	missense variant	-	NC_000009.12:g.16435915T>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu761Asp	rs572117506	missense variant	-	NC_000009.12:g.16435911C>G	1000Genomes,gnomAD
BNC2	Q6ZN30	p.Ser764Asn	rs771036938	missense variant	-	NC_000009.12:g.16435903C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser764Gly	rs199800113	missense variant	-	NC_000009.12:g.16435904T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu765Asp	rs553443108	missense variant	-	NC_000009.12:g.16435899C>G	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Pro766Ser	rs777830057	missense variant	-	NC_000009.12:g.16435898G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His768Tyr	rs1233483802	missense variant	-	NC_000009.12:g.16435892G>A	TOPMed
BNC2	Q6ZN30	p.His768Gln	rs148819981	missense variant	-	NC_000009.12:g.16435890G>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln769Glu	rs538653615	missense variant	-	NC_000009.12:g.16435889G>C	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln769Lys	rs538653615	missense variant	-	NC_000009.12:g.16435889G>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln769Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435888T>A	NCI-TCGA
BNC2	Q6ZN30	p.Val771Ile	rs754125807	missense variant	-	NC_000009.12:g.16435883C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile772Met	rs767235881	missense variant	-	NC_000009.12:g.16435878G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Lys773Asn	rs756965590	missense variant	-	NC_000009.12:g.16435875C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu776Gly	rs571419639	missense variant	-	NC_000009.12:g.16435867T>C	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Glu776Ter	COSM422409	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.16435868C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Glu777Ala	rs763638464	missense variant	-	NC_000009.12:g.16435864T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr779Ala	rs775459888	missense variant	-	NC_000009.12:g.16435859T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr779Ile	rs764964039	missense variant	-	NC_000009.12:g.16435858G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp780Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435856C>A	NCI-TCGA
BNC2	Q6ZN30	p.Pro781Ser	rs776262248	missense variant	-	NC_000009.12:g.16435853G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr782Ile	rs1245531903	missense variant	-	NC_000009.12:g.16435849G>A	TOPMed
BNC2	Q6ZN30	p.Thr782Ala	rs3739714	missense variant	-	NC_000009.12:g.16435850T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr782Ala	rs3739714	missense variant	-	NC_000009.12:g.16435850T>C	UniProt,dbSNP
BNC2	Q6ZN30	p.Thr782Ala	VAR_033543	missense variant	-	NC_000009.12:g.16435850T>C	UniProt
BNC2	Q6ZN30	p.Asp784Val	rs772096905	missense variant	-	NC_000009.12:g.16435843T>A	ExAC
BNC2	Q6ZN30	p.Asp784Asn	rs181797373	missense variant	-	NC_000009.12:g.16435844C>T	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Met785Thr	rs367993561	missense variant	-	NC_000009.12:g.16435840A>G	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met785Leu	rs776963457	missense variant	-	NC_000009.12:g.16435841T>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met788Val	rs756982051	missense variant	-	NC_000009.12:g.16435832T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met788Leu	rs756982051	missense variant	-	NC_000009.12:g.16435832T>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser789Ile	COSM1107500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435828C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Gln790Arg	rs1439973322	missense variant	-	NC_000009.12:g.16435825T>C	TOPMed
BNC2	Q6ZN30	p.Gln790Ter	rs1400757804	stop gained	-	NC_000009.12:g.16435826G>A	TOPMed
BNC2	Q6ZN30	p.Gln790His	rs751188998	missense variant	-	NC_000009.12:g.16435824C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Gln790Lys	COSM6029953	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435826G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Tyr791Cys	rs889762379	missense variant	-	NC_000009.12:g.16435822T>C	TOPMed
BNC2	Q6ZN30	p.Tyr791His	rs140694690	missense variant	-	NC_000009.12:g.16435823A>G	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly792Glu	rs757934305	missense variant	-	NC_000009.12:g.16435819C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Leu793Val	rs149857656	missense variant	-	NC_000009.12:g.16435817G>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu793Gln	rs1173068949	missense variant	-	NC_000009.12:g.16435816A>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asn795Ser	rs140164412	missense variant	-	NC_000009.12:g.16435810T>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly797Arg	rs146878452	missense variant	-	NC_000009.12:g.16435805C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly797Arg	rs146878452	missense variant	-	NC_000009.12:g.16435805C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly798Cys	rs766109458	missense variant	-	NC_000009.12:g.16435802C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala799Thr	rs760894948	missense variant	-	NC_000009.12:g.16435799C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala799Val	rs1208899824	missense variant	-	NC_000009.12:g.16435798G>A	gnomAD
BNC2	Q6ZN30	p.Met801Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435792A>G	NCI-TCGA
BNC2	Q6ZN30	p.Ala802Asp	COSM1461571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435789G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ala803Thr	rs748296825	missense variant	-	NC_000009.12:g.16435787C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His805Arg	rs774287597	missense variant	-	NC_000009.12:g.16435780T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Glu806Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435776C>A	NCI-TCGA
BNC2	Q6ZN30	p.Ser810Leu	rs769262078	missense variant	-	NC_000009.12:g.16435765G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser810Leu	rs769262078	missense variant	-	NC_000009.12:g.16435765G>A	NCI-TCGA
BNC2	Q6ZN30	p.Asn813Ser	rs1227401307	missense variant	-	NC_000009.12:g.16435756T>C	gnomAD
BNC2	Q6ZN30	p.Tyr814Phe	rs1423963304	missense variant	-	NC_000009.12:g.16435753T>A	TOPMed
BNC2	Q6ZN30	p.Gly815Ser	rs371268674	missense variant	-	NC_000009.12:g.16435751C>T	ESP,ExAC,gnomAD
BNC2	Q6ZN30	p.Ser816Arg	rs777619097	missense variant	-	NC_000009.12:g.16435746G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser816Asn	rs1161276784	missense variant	-	NC_000009.12:g.16435747C>T	TOPMed
BNC2	Q6ZN30	p.Pro817Leu	rs1392731740	missense variant	-	NC_000009.12:g.16435744G>A	TOPMed
BNC2	Q6ZN30	p.Pro817Thr	rs201052745	missense variant	-	NC_000009.12:g.16435745G>T	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Phe820Leu	rs778276870	missense variant	-	NC_000009.12:g.16435734G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser821Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435732G>A	NCI-TCGA
BNC2	Q6ZN30	p.Gly824Arg	rs1472789940	missense variant	-	NC_000009.12:g.16435724C>G	gnomAD
BNC2	Q6ZN30	p.Asp825Glu	rs754961602	missense variant	-	NC_000009.12:g.16435719G>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu826Val	rs753655894	missense variant	-	NC_000009.12:g.16435718G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Cys827Phe	rs1175588333	missense variant	-	NC_000009.12:g.16435714C>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser828Cys	rs374475570	missense variant	-	NC_000009.12:g.16435711G>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser828Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435711G>T	NCI-TCGA
BNC2	Q6ZN30	p.Ser829Ile	rs767790901	missense variant	-	NC_000009.12:g.16435708C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro830Ser	rs1445708619	missense variant	-	NC_000009.12:g.16435706G>A	gnomAD
BNC2	Q6ZN30	p.Pro830Gln	COSM3906314	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435705G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp831Val	rs1264060253	missense variant	-	NC_000009.12:g.16435702T>A	TOPMed
BNC2	Q6ZN30	p.Lys833Asn	rs774500854	missense variant	-	NC_000009.12:g.16435695T>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys833Asn	rs774500854	missense variant	-	NC_000009.12:g.16435695T>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Tyr836Cys	rs768551362	missense variant	-	NC_000009.12:g.16435687T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Val837Leu	rs532571959	missense variant	-	NC_000009.12:g.16435685C>A	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Lys843Arg	rs746855838	missense variant	-	NC_000009.12:g.16435666T>C	gnomAD
BNC2	Q6ZN30	p.Lys843Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435666T>G	NCI-TCGA
BNC2	Q6ZN30	p.Ser844Thr	rs1284207933	missense variant	-	NC_000009.12:g.16435663C>G	gnomAD
BNC2	Q6ZN30	p.Ser847Arg	rs746276768	missense variant	-	NC_000009.12:g.16435653A>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Val848Met	COSM3906310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16435652C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Leu850Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435645A>C	NCI-TCGA
BNC2	Q6ZN30	p.Leu850Ile	rs1319785352	missense variant	-	NC_000009.12:g.16435646G>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu850His	rs1457612038	missense variant	-	NC_000009.12:g.16435645A>T	gnomAD
BNC2	Q6ZN30	p.His851Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435643G>A	NCI-TCGA
BNC2	Q6ZN30	p.Tyr852Cys	rs1474689616	missense variant	-	NC_000009.12:g.16435639T>C	TOPMed
BNC2	Q6ZN30	p.Arg853Lys	rs1369984431	missense variant	-	NC_000009.12:g.16435636C>T	TOPMed
BNC2	Q6ZN30	p.Asn854Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435632G>C	NCI-TCGA
BNC2	Q6ZN30	p.Asn854Ser	rs910492041	missense variant	-	NC_000009.12:g.16435633T>C	TOPMed
BNC2	Q6ZN30	p.Val855Phe	rs747700365	missense variant	-	NC_000009.12:g.16435631C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Val855Ile	rs747700365	missense variant	-	NC_000009.12:g.16435631C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Val855Ile	rs747700365	missense variant	-	NC_000009.12:g.16435631C>T	NCI-TCGA
BNC2	Q6ZN30	p.Glu859Gly	rs1404922971	missense variant	-	NC_000009.12:g.16435618T>C	gnomAD
BNC2	Q6ZN30	p.Met860Ile	rs754409695	missense variant	-	NC_000009.12:g.16435614C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met860Ile	rs754409695	missense variant	-	NC_000009.12:g.16435614C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Val862Ile	rs780002369	missense variant	-	NC_000009.12:g.16435610C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Val862Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435610C>G	NCI-TCGA
BNC2	Q6ZN30	p.Cys863Ser	rs1300137021	missense variant	-	NC_000009.12:g.16435606C>G	TOPMed
BNC2	Q6ZN30	p.Cys863Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435606C>T	NCI-TCGA
BNC2	Q6ZN30	p.Val865Met	rs756039178	missense variant	-	NC_000009.12:g.16435601C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Gly867Ser	rs750274081	missense variant	-	NC_000009.12:g.16435595C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Cys868Trp	rs762096978	missense variant	-	NC_000009.12:g.16435590G>C	ExAC
BNC2	Q6ZN30	p.Asn869Ser	rs1271597683	missense variant	-	NC_000009.12:g.16435588T>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala870Val	rs1342625140	missense variant	-	NC_000009.12:g.16435585G>A	TOPMed
BNC2	Q6ZN30	p.Ala871Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16435582G>T	NCI-TCGA
BNC2	Q6ZN30	p.Arg875Cys	rs1290133928	missense variant	-	NC_000009.12:g.16435571G>A	gnomAD
BNC2	Q6ZN30	p.Arg875Leu	rs565215420	missense variant	-	NC_000009.12:g.16435570C>A	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg875His	rs565215420	missense variant	-	NC_000009.12:g.16435570C>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg876Gln	rs770491820	missense variant	-	NC_000009.12:g.16435567C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg876Ter	rs1296819700	stop gained	-	NC_000009.12:g.16435568G>A	gnomAD
BNC2	Q6ZN30	p.Arg876Ter	rs1296819700	stop gained	-	NC_000009.12:g.16435568G>A	NCI-TCGA
BNC2	Q6ZN30	p.Arg878Gln	rs1180035312	missense variant	-	NC_000009.12:g.16435561C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg878Gln	rs1180035312	missense variant	-	NC_000009.12:g.16435561C>T	gnomAD
BNC2	Q6ZN30	p.Ala883Thr	rs531118224	missense variant	-	NC_000009.12:g.16419642C>T	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Ala883Asp	rs1216369154	missense variant	-	NC_000009.12:g.16419641G>T	TOPMed
BNC2	Q6ZN30	p.Asn884Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419637G>T	NCI-TCGA
BNC2	Q6ZN30	p.Asn886Lys	rs373879208	missense variant	-	NC_000009.12:g.16419631G>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His888Tyr	rs370046975	missense variant	-	NC_000009.12:g.16419627G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His888Arg	RCV000760297	missense variant	Lower Urinary Tract Obstruction	NC_000009.12:g.16419626T>C	ClinVar
BNC2	Q6ZN30	p.His888Arg	RCV000852368	missense variant	LOWER URINARY TRACT OBSTRUCTION, CONGENITAL (LUTO)	NC_000009.12:g.16419626T>C	ClinVar
BNC2	Q6ZN30	p.Arg889His	rs755792115	missense variant	-	NC_000009.12:g.16419623C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg889Cys	rs779084645	missense variant	-	NC_000009.12:g.16419624G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys890AspLys	NCI-TCGA novel	insertion	-	NC_000009.12:g.16419618_16419619insCTTGTC	NCI-TCGA
BNC2	Q6ZN30	p.Leu892Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419613C>G	NCI-TCGA
BNC2	Q6ZN30	p.Leu892Ser	rs1307879897	missense variant	-	NC_000009.12:g.16419614A>G	gnomAD
BNC2	Q6ZN30	p.Lys894Arg	rs750053911	missense variant	-	NC_000009.12:g.16419608T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp897Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419600C>A	NCI-TCGA
BNC2	Q6ZN30	p.Asp897Asn	rs756874020	missense variant	-	NC_000009.12:g.16419600C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp898His	rs751082440	missense variant	-	NC_000009.12:g.16419597C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp898Ala	rs1408699781	missense variant	-	NC_000009.12:g.16419596T>G	gnomAD
BNC2	Q6ZN30	p.Met899Val	rs762786207	missense variant	-	NC_000009.12:g.16419594T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Gly900Arg	rs781416101	missense variant	-	NC_000009.12:g.16419591C>G	TOPMed
BNC2	Q6ZN30	p.Gly900Ser	rs781416101	missense variant	-	NC_000009.12:g.16419591C>T	TOPMed
BNC2	Q6ZN30	p.Gly900Val	rs112319445	missense variant	-	NC_000009.12:g.16419590C>A	TOPMed
BNC2	Q6ZN30	p.Leu901Gln	rs1362862251	missense variant	-	NC_000009.12:g.16419587A>T	gnomAD
BNC2	Q6ZN30	p.Asp902His	rs1302257197	missense variant	-	NC_000009.12:g.16419585C>G	TOPMed
BNC2	Q6ZN30	p.Asp902Tyr	COSM3906309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419585C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp902Glu	COSM4876706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419583G>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ser903Leu	rs752551063	missense variant	-	NC_000009.12:g.16419581G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser904Thr	rs759786995	missense variant	-	NC_000009.12:g.16419579A>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser904Leu	rs542038873	missense variant	-	NC_000009.12:g.16419578G>A	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro906Ser	rs1305298202	missense variant	-	NC_000009.12:g.16419573G>A	TOPMed
BNC2	Q6ZN30	p.Leu908Pro	rs148292840	missense variant	-	NC_000009.12:g.16419566A>G	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu908Arg	rs148292840	missense variant	-	NC_000009.12:g.16419566A>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser909Thr	rs1459130413	missense variant	-	NC_000009.12:g.16419563C>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp911Glu	rs144217211	missense variant	-	NC_000009.12:g.16419556G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp911Tyr	COSM752944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419558C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg913His	rs142906838	missense variant	-	NC_000009.12:g.16419551C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg913Cys	rs201906895	missense variant	-	NC_000009.12:g.16419552G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp914His	rs1385446031	missense variant	-	NC_000009.12:g.16419549C>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp914Asn	rs1385446031	missense variant	-	NC_000009.12:g.16419549C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu915Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419546C>G	NCI-TCGA
BNC2	Q6ZN30	p.Phe916Leu	COSM1461569	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419541A>C	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Val918Leu	rs756964014	missense variant	-	NC_000009.12:g.16419537C>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Val918Met	rs756964014	missense variant	-	NC_000009.12:g.16419537C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys919Glu	rs1434809721	missense variant	-	NC_000009.12:g.16419534T>C	gnomAD
BNC2	Q6ZN30	p.Ile920Val	rs751172524	missense variant	-	NC_000009.12:g.16419531T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile920Met	rs138887153	missense variant	-	NC_000009.12:g.16419529T>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Tyr921Cys	rs377436091	missense variant	-	NC_000009.12:g.16419527T>C	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Tyr921His	rs370230174	missense variant	-	NC_000009.12:g.16419528A>G	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly922Asp	rs3739716	missense variant	-	NC_000009.12:g.16419524C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala923Gly	rs117452684	missense variant	-	NC_000009.12:g.16419521G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala923Val	rs117452684	missense variant	-	NC_000009.12:g.16419521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala923Val	RCV000190266	missense variant	-	NC_000009.12:g.16419521G>A	ClinVar
BNC2	Q6ZN30	p.Ala923Ser	rs145962490	missense variant	-	NC_000009.12:g.16419522C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gln924SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.16419519G>-	NCI-TCGA
BNC2	Q6ZN30	p.His925Gln	rs576728040	missense variant	-	NC_000009.12:g.16419514G>C	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His925Gln	rs576728040	missense variant	-	NC_000009.12:g.16419514G>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro926Leu	rs368784393	missense variant	-	NC_000009.12:g.16419512G>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro926Thr	rs1446177709	missense variant	-	NC_000009.12:g.16419513G>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro926Ala	rs1446177709	missense variant	-	NC_000009.12:g.16419513G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro926His	rs368784393	missense variant	-	NC_000009.12:g.16419512G>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met927Thr	rs1301127668	missense variant	-	NC_000009.12:g.16419509A>G	TOPMed
BNC2	Q6ZN30	p.Asp930Asn	rs138000896	missense variant	-	NC_000009.12:g.16419501C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp930Gly	RCV000190267	missense variant	-	NC_000009.12:g.16419500T>C	ClinVar
BNC2	Q6ZN30	p.Asp930Gly	rs41268965	missense variant	-	NC_000009.12:g.16419500T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Val931Ile	rs780561477	missense variant	-	NC_000009.12:g.16419498C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Arg932Gly	rs1327351086	missense variant	-	NC_000009.12:g.16419495T>C	gnomAD
BNC2	Q6ZN30	p.Glu933Lys	rs1295881023	missense variant	-	NC_000009.12:g.16419492C>T	gnomAD
BNC2	Q6ZN30	p.Ala935Val	rs757805720	missense variant	-	NC_000009.12:g.16419485G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala935Thr	rs1234264230	missense variant	-	NC_000009.12:g.16419486C>T	TOPMed
BNC2	Q6ZN30	p.Ser936Ala	rs993102454	missense variant	-	NC_000009.12:g.16419483A>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser936Phe	rs778761698	missense variant	-	NC_000009.12:g.16419482G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser937Phe	rs754893610	missense variant	-	NC_000009.12:g.16419479G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro938Thr	rs766109513	missense variant	-	NC_000009.12:g.16419477G>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro938Ser	rs766109513	missense variant	-	NC_000009.12:g.16419477G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Pro938Ala	rs766109513	missense variant	-	NC_000009.12:g.16419477G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala939Ser	rs140165119	missense variant	-	NC_000009.12:g.16419474C>A	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala939Pro	rs140165119	missense variant	-	NC_000009.12:g.16419474C>G	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala939Thr	rs140165119	missense variant	-	NC_000009.12:g.16419474C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly940Arg	rs1409456489	missense variant	-	NC_000009.12:g.16419471C>G	TOPMed
BNC2	Q6ZN30	p.Ser944Pro	rs1223385000	missense variant	-	NC_000009.12:g.16419459A>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.His945Tyr	rs1356513994	missense variant	-	NC_000009.12:g.16419456G>A	TOPMed
BNC2	Q6ZN30	p.Leu946Val	rs1490852363	missense variant	-	NC_000009.12:g.16419453G>C	gnomAD
BNC2	Q6ZN30	p.Gly948Arg	rs962332422	missense variant	-	NC_000009.12:g.16419447C>T	-
BNC2	Q6ZN30	p.Tyr949Cys	rs1344096600	missense variant	-	NC_000009.12:g.16419443T>C	TOPMed
BNC2	Q6ZN30	p.Gly950Glu	rs1340503764	missense variant	-	NC_000009.12:g.16419440C>T	gnomAD
BNC2	Q6ZN30	p.Gly952Arg	rs764765254	missense variant	-	NC_000009.12:g.16419435C>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met953Ile	rs1282205605	missense variant	-	NC_000009.12:g.16419430C>T	gnomAD
BNC2	Q6ZN30	p.Met953Val	rs1343306709	missense variant	-	NC_000009.12:g.16419432T>C	gnomAD
BNC2	Q6ZN30	p.Ala954Thr	rs763487720	missense variant	-	NC_000009.12:g.16419429C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp956Gly	rs1306119283	missense variant	-	NC_000009.12:g.16419422T>C	gnomAD
BNC2	Q6ZN30	p.Met958Leu	rs201371406	missense variant	-	NC_000009.12:g.16419417T>G	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met958Val	rs201371406	missense variant	-	NC_000009.12:g.16419417T>C	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met958Ile	rs770234380	missense variant	-	NC_000009.12:g.16419415C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp961Tyr	rs746704528	missense variant	-	NC_000009.12:g.16419408C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp961Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419406G>T	NCI-TCGA
BNC2	Q6ZN30	p.Asp961Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419408C>T	NCI-TCGA
BNC2	Q6ZN30	p.Leu962Phe	rs1464340354	missense variant	-	NC_000009.12:g.16419403C>G	TOPMed,gnomAD
BNC2	Q6ZN30	p.Thr964Ser	rs772778996	missense variant	-	NC_000009.12:g.16419398G>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Thr965Asn	rs373606750	missense variant	-	NC_000009.12:g.16419395G>T	ESP,ExAC,gnomAD
BNC2	Q6ZN30	p.Leu968Val	rs1249641384	missense variant	-	NC_000009.12:g.16419387G>C	gnomAD
BNC2	Q6ZN30	p.Ser973Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419371C>T	NCI-TCGA
BNC2	Q6ZN30	p.Ile974Thr	rs749179153	missense variant	-	NC_000009.12:g.16419368A>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile974Val	rs35005898	missense variant	-	NC_000009.12:g.16419369T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile974Val	RCV000190268	missense variant	-	NC_000009.12:g.16419369T>C	ClinVar
BNC2	Q6ZN30	p.Glu979Ter	rs750212130	stop gained	-	NC_000009.12:g.16419354C>A	ExAC
BNC2	Q6ZN30	p.Glu979Gly	rs1262424171	missense variant	-	NC_000009.12:g.16419353T>C	TOPMed
BNC2	Q6ZN30	p.Ser980Pro	rs767692182	missense variant	-	NC_000009.12:g.16419351A>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp981Glu	rs374901966	missense variant	-	NC_000009.12:g.16419346G>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp981Asn	rs201719018	missense variant	-	NC_000009.12:g.16419348C>T	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Ala982Thr	rs371693182	missense variant	-	NC_000009.12:g.16419345C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly983Val	rs1330774623	missense variant	-	NC_000009.12:g.16419341C>A	gnomAD
BNC2	Q6ZN30	p.Ser984Asn	COSM1107493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419338C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Asp985Asn	rs765807072	missense variant	-	NC_000009.12:g.16419336C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp985His	rs765807072	missense variant	-	NC_000009.12:g.16419336C>G	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu986Gly	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419332T>C	NCI-TCGA
BNC2	Q6ZN30	p.Glu986Asp	rs759866043	missense variant	-	NC_000009.12:g.16419331C>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile988Phe	rs1471115877	missense variant	-	NC_000009.12:g.16419327T>A	gnomAD
BNC2	Q6ZN30	p.Leu989Phe	rs777038789	missense variant	-	NC_000009.12:g.16419324G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp991Val	rs773877749	missense variant	-	NC_000009.12:g.16419317T>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp991Asn	rs753276488	missense variant	-	NC_000009.12:g.16419318C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp991Gly	rs773877749	missense variant	-	NC_000009.12:g.16419317T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Asp991Tyr	rs753276488	missense variant	-	NC_000009.12:g.16419318C>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Asp992Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419315C>A	NCI-TCGA
BNC2	Q6ZN30	p.Ile993Thr	rs374764242	missense variant	-	NC_000009.12:g.16419311A>G	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ile993Val	rs534810855	missense variant	-	NC_000009.12:g.16419312T>C	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Asp994Asn	rs889693656	missense variant	-	NC_000009.12:g.16419309C>T	TOPMed
BNC2	Q6ZN30	p.Gly995Arg	rs143124811	missense variant	-	NC_000009.12:g.16419306C>G	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly995Arg	rs143124811	missense variant	-	NC_000009.12:g.16419306C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly995Glu	rs780975017	missense variant	-	NC_000009.12:g.16419305C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Ala996Gly	rs1281236482	missense variant	-	NC_000009.12:g.16419302G>C	gnomAD
BNC2	Q6ZN30	p.Ser997Asn	rs751782260	missense variant	-	NC_000009.12:g.16419299C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Gly1000Arg	rs778028950	missense variant	-	NC_000009.12:g.16419291C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Gly1000Ala	rs1454355313	missense variant	-	NC_000009.12:g.16419290C>G	gnomAD
BNC2	Q6ZN30	p.Glu1001Lys	rs758589695	missense variant	-	NC_000009.12:g.16419288C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser1002Trp	rs752799809	missense variant	-	NC_000009.12:g.16419284G>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser1002Leu	rs752799809	missense variant	-	NC_000009.12:g.16419284G>A	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala1003Thr	rs1401377861	missense variant	-	NC_000009.12:g.16419282C>T	gnomAD
BNC2	Q6ZN30	p.His1004Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419278T>C	NCI-TCGA
BNC2	Q6ZN30	p.Ala1006Val	rs143280183	missense variant	-	NC_000009.12:g.16419272G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Glu1007Lys	rs552303945	missense variant	-	NC_000009.12:g.16419270C>T	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Glu1007Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419268C>A	NCI-TCGA
BNC2	Q6ZN30	p.Ala1008Thr	rs200106312	missense variant	-	NC_000009.12:g.16419267C>T	1000Genomes,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ala1008Asp	rs774036140	missense variant	-	NC_000009.12:g.16419266G>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Pro1009Thr	rs139357194	missense variant	-	NC_000009.12:g.16419264G>T	1000Genomes
BNC2	Q6ZN30	p.Pro1009Leu	rs1214572092	missense variant	-	NC_000009.12:g.16419263G>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Leu1011Phe	rs946095033	missense variant	-	NC_000009.12:g.16419258G>A	TOPMed
BNC2	Q6ZN30	p.Pro1012His	rs1447094048	missense variant	-	NC_000009.12:g.16419254G>T	gnomAD
BNC2	Q6ZN30	p.Gly1013Val	rs762510217	missense variant	-	NC_000009.12:g.16419251C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser1014Ile	rs769624779	missense variant	-	NC_000009.12:g.16419248C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Glu1018Lys	rs780872323	missense variant	-	NC_000009.12:g.16419237C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser1020Ala	rs1359540880	missense variant	-	NC_000009.12:g.16419231A>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser1020Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16419230G>T	NCI-TCGA
BNC2	Q6ZN30	p.Gly1021Val	rs891839945	missense variant	-	NC_000009.12:g.16419227C>A	TOPMed
BNC2	Q6ZN30	p.Ser1022Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419224G>A	NCI-TCGA
BNC2	Q6ZN30	p.Ser1022Cys	rs1309358409	missense variant	-	NC_000009.12:g.16419224G>C	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser1022Tyr	COSM6182996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419224G>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Leu1023Arg	rs770720226	missense variant	-	NC_000009.12:g.16419221A>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Met1024Ile	rs763731321	missense variant	-	NC_000009.12:g.16419217C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Met1024Thr	rs1347175801	missense variant	-	NC_000009.12:g.16419218A>G	gnomAD
BNC2	Q6ZN30	p.Phe1025Leu	rs778188351	missense variant	-	NC_000009.12:g.16419216A>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Ser1026Arg	rs374738575	missense variant	-	NC_000009.12:g.16419213T>G	ESP,TOPMed
BNC2	Q6ZN30	p.Leu1028Phe	rs200590786	missense variant	-	NC_000009.12:g.16419205C>G	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Ser1029Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419203G>A	NCI-TCGA
BNC2	Q6ZN30	p.Gly1030Glu	rs372397169	missense variant	-	NC_000009.12:g.16419200C>T	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Gly1030Ala	rs372397169	missense variant	-	NC_000009.12:g.16419200C>G	ESP,ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser1031Gly	rs1284878193	missense variant	-	NC_000009.12:g.16419198T>C	TOPMed
BNC2	Q6ZN30	p.Asn1032Ser	rs766769136	missense variant	-	NC_000009.12:g.16419194T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile1035Phe	rs761079076	missense variant	-	NC_000009.12:g.16419186T>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Met1036Val	rs750775937	missense variant	-	NC_000009.12:g.16419183T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Met1036Ile	rs1243465212	missense variant	-	NC_000009.12:g.16419181C>T	gnomAD
BNC2	Q6ZN30	p.Asn1038Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419176T>C	NCI-TCGA
BNC2	Q6ZN30	p.Met1043Ile	rs1305092172	missense variant	-	NC_000009.12:g.16419160C>T	TOPMed,gnomAD
BNC2	Q6ZN30	p.Ser1045Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419154G>T	NCI-TCGA
BNC2	Q6ZN30	p.Ser1045Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419155C>T	NCI-TCGA
BNC2	Q6ZN30	p.Ser1045Gly	rs750965986	missense variant	-	NC_000009.12:g.16419156T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Asn1046Ser	rs769298824	missense variant	-	NC_000009.12:g.16419152T>C	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys1047Arg	rs1305556830	missense variant	-	NC_000009.12:g.16419149T>C	gnomAD
BNC2	Q6ZN30	p.Lys1047Asn	COSM6182997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419148C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Gly1048Arg	rs1462802321	missense variant	-	NC_000009.12:g.16419147C>G	TOPMed
BNC2	Q6ZN30	p.Val1052Ala	rs1363523575	missense variant	-	NC_000009.12:g.16419134A>G	TOPMed
BNC2	Q6ZN30	p.Val1057Met	rs776670051	missense variant	-	NC_000009.12:g.16419120C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Leu1059Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419112C>G	NCI-TCGA
BNC2	Q6ZN30	p.Leu1059Ser	rs1364412936	missense variant	-	NC_000009.12:g.16419113A>G	gnomAD
BNC2	Q6ZN30	p.Arg1060Lys	COSM6115256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419110C>T	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Arg1060Thr	COSM1314696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419110C>G	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Lys1066Asn	rs972534877	missense variant	-	NC_000009.12:g.16419091T>G	TOPMed
BNC2	Q6ZN30	p.Lys1066Thr	rs920077298	missense variant	-	NC_000009.12:g.16419092T>G	TOPMed
BNC2	Q6ZN30	p.Cys1070Phe	COSM752946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419080C>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Met1072Thr	rs1404445762	missense variant	-	NC_000009.12:g.16419074A>G	gnomAD
BNC2	Q6ZN30	p.Met1073Leu	rs770750456	missense variant	-	NC_000009.12:g.16419072T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Met1073Val	rs770750456	missense variant	-	NC_000009.12:g.16419072T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Phe1074Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419067A>C	NCI-TCGA
BNC2	Q6ZN30	p.Arg1078Gln	rs746857220	missense variant	-	NC_000009.12:g.16419056C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg1078Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16419057G>A	NCI-TCGA
BNC2	Q6ZN30	p.Arg1080Leu	rs772424815	missense variant	-	NC_000009.12:g.16419050C>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg1080Gln	rs772424815	missense variant	-	NC_000009.12:g.16419050C>T	ExAC,gnomAD
BNC2	Q6ZN30	p.Arg1080Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.16419051G>A	NCI-TCGA
BNC2	Q6ZN30	p.Arg1082Trp	rs528196175	missense variant	-	NC_000009.12:g.16419045G>A	gnomAD
BNC2	Q6ZN30	p.Arg1082Gln	rs748318764	missense variant	-	NC_000009.12:g.16419044C>T	ExAC,TOPMed,gnomAD
BNC2	Q6ZN30	p.His1083Gln	rs147286013	missense variant	-	NC_000009.12:g.16419040G>C	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.His1083Asn	rs1425363271	missense variant	-	NC_000009.12:g.16419042G>T	gnomAD
BNC2	Q6ZN30	p.Ser1084Gly	rs1268895523	missense variant	-	NC_000009.12:g.16419039T>C	gnomAD
BNC2	Q6ZN30	p.Pro1087Leu	rs755129312	missense variant	-	NC_000009.12:g.16419029G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Asn1088Asp	rs749309637	missense variant	-	NC_000009.12:g.16419027T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Asn1088His	rs749309637	missense variant	-	NC_000009.12:g.16419027T>G	ExAC,gnomAD
BNC2	Q6ZN30	p.Leu1089Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16419024G>A	NCI-TCGA
BNC2	Q6ZN30	p.Lys1091Ter	rs955832729	stop gained	-	NC_000009.12:g.16419018T>A	TOPMed,gnomAD
BNC2	Q6ZN30	p.Lys1091Arg	rs756611837	missense variant	-	NC_000009.12:g.16419017T>C	ExAC,gnomAD
BNC2	Q6ZN30	p.Ile1093Phe	rs986395719	missense variant	-	NC_000009.12:g.16419012T>A	TOPMed
BNC2	Q6ZN30	p.Ile1093Val	rs986395719	missense variant	-	NC_000009.12:g.16419012T>C	TOPMed
BNC2	Q6ZN30	p.Pro1094Ala	rs1261523648	missense variant	-	NC_000009.12:g.16419009G>C	gnomAD
BNC2	Q6ZN30	p.Thr1096Ile	COSM1461565	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.16419002G>A	NCI-TCGA Cosmic
BNC2	Q6ZN30	p.Ser1097Leu	rs750792460	missense variant	-	NC_000009.12:g.16418999G>A	ExAC,gnomAD
BNC2	Q6ZN30	p.Val1098Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.16418996A>T	NCI-TCGA
BNC2	Q6ZN30	p.Asp1099Val	rs541082740	missense variant	-	NC_000009.12:g.16418993T>A	1000Genomes,ExAC,gnomAD
BNC2	Q6ZN30	p.Asp1099His	rs1324381141	missense variant	-	NC_000009.12:g.16418994C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Gln6Arg	rs1014206864	missense variant	-	NC_000018.10:g.75211893A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Ala8Thr	rs1251903763	missense variant	-	NC_000018.10:g.75211898G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Ala8Val	rs1044316616	missense variant	-	NC_000018.10:g.75211899C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg11Cys	rs1327426241	missense variant	-	NC_000018.10:g.75211907C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Val16Ile	rs771718119	missense variant	-	NC_000018.10:g.75285453G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro17Leu	rs776866413	missense variant	-	NC_000018.10:g.75285457C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu20Asp	rs1181857330	missense variant	-	NC_000018.10:g.75285467A>C	TOPMed
TSHZ1	Q6ZSZ6	p.Lys22Asn	rs558993352	missense variant	-	NC_000018.10:g.75285473G>C	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala23Thr	rs1196510751	missense variant	-	NC_000018.10:g.75285474G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ile26Val	rs1477640744	missense variant	-	NC_000018.10:g.75285483A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asp27ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.75285484_75285485insA	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Glu29Asp	RCV000359190	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285494G>T	ClinVar
TSHZ1	Q6ZSZ6	p.Glu29Asp	rs886054111	missense variant	-	NC_000018.10:g.75285494G>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His30Asn	rs572698442	missense variant	-	NC_000018.10:g.75285495C>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His30Gln	rs763522691	missense variant	-	NC_000018.10:g.75285497C>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val31Met	rs1452220544	missense variant	-	NC_000018.10:g.75285498G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val31Leu	rs1452220544	missense variant	-	NC_000018.10:g.75285498G>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly35Arg	rs539535971	missense variant	-	NC_000018.10:g.75285510G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly35Arg	rs539535971	missense variant	-	NC_000018.10:g.75285510G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu36Val	rs750631214	missense variant	-	NC_000018.10:g.75285513C>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu38Val	rs934212563	missense variant	-	NC_000018.10:g.75285519T>G	TOPMed
TSHZ1	Q6ZSZ6	p.Asp39His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285522G>C	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ile40Val	rs779789734	missense variant	-	NC_000018.10:g.75285525A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu42Asp	rs1426975071	missense variant	-	NC_000018.10:g.75285533A>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser43Gly	RCV000407912	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285534A>G	ClinVar
TSHZ1	Q6ZSZ6	p.Ser43Ile	rs754892972	missense variant	-	NC_000018.10:g.75285535G>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser43Gly	rs78788703	missense variant	-	NC_000018.10:g.75285534A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met46Val	rs778320181	missense variant	-	NC_000018.10:g.75285543A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Met46Thr	rs199698194	missense variant	-	NC_000018.10:g.75285544T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu49Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285552G>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Thr51Met	rs777629342	missense variant	-	NC_000018.10:g.75285559C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ile53Met	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285566C>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Glu55Asp	rs1417949037	missense variant	-	NC_000018.10:g.75285572G>T	gnomAD
TSHZ1	Q6ZSZ6	p.Glu55Lys	rs375819140	missense variant	-	NC_000018.10:g.75285570G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala56Val	rs775977820	missense variant	-	NC_000018.10:g.75285574C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala56Thr	rs1159232588	missense variant	-	NC_000018.10:g.75285573G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ala56Glu	rs775977820	missense variant	-	NC_000018.10:g.75285574C>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln60Arg	rs774306161	missense variant	-	NC_000018.10:g.75285586A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser62Pro	rs1441877099	missense variant	-	NC_000018.10:g.75285591T>C	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro63Ser	rs369597823	missense variant	-	NC_000018.10:g.75285594C>T	ESP
TSHZ1	Q6ZSZ6	p.Ser66Phe	rs1371484603	missense variant	-	NC_000018.10:g.75285604C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ala67Val	rs543956737	missense variant	-	NC_000018.10:g.75285607C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala67Val	RCV000364937	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285607C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Gln70Leu	rs1204832288	missense variant	-	NC_000018.10:g.75285616A>T	TOPMed
TSHZ1	Q6ZSZ6	p.Ala72Thr	rs760860368	missense variant	-	NC_000018.10:g.75285621G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala72Asp	rs1272273907	missense variant	-	NC_000018.10:g.75285622C>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ala72Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285621G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Gly73Cys	rs111929894	missense variant	-	NC_000018.10:g.75285624G>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly73Asp	rs192502099	missense variant	-	NC_000018.10:g.75285625G>A	1000Genomes
TSHZ1	Q6ZSZ6	p.Gly73Ser	rs111929894	missense variant	-	NC_000018.10:g.75285624G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr74Cys	rs754878049	missense variant	-	NC_000018.10:g.75285628A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly75Val	rs752567210	missense variant	-	NC_000018.10:g.75285631G>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser76Leu	rs764108233	missense variant	-	NC_000018.10:g.75285634C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser76Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285633T>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Pro77Thr	rs1163485035	missense variant	-	NC_000018.10:g.75285636C>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ser79Asn	rs757996727	missense variant	-	NC_000018.10:g.75285643G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser81Asn	rs777386558	missense variant	-	NC_000018.10:g.75285649G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser82Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285651A>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Asp83Asn	rs1461689441	missense variant	-	NC_000018.10:g.75285654G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln84Arg	rs1298794343	missense variant	-	NC_000018.10:g.75285658A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Gln84Lys	rs1382110343	missense variant	-	NC_000018.10:g.75285657C>A	TOPMed
TSHZ1	Q6ZSZ6	p.Ala86Thr	rs756922800	missense variant	-	NC_000018.10:g.75285663G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala86Val	rs1412847972	missense variant	-	NC_000018.10:g.75285664C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Lys89Gln	rs749606436	missense variant	-	NC_000018.10:g.75285672A>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly90Cys	rs1270652856	missense variant	-	NC_000018.10:g.75285675G>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser92Pro	rs748571677	missense variant	-	NC_000018.10:g.75285681T>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser93Thr	rs565073733	missense variant	-	NC_000018.10:g.75285684T>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser93Pro	rs565073733	missense variant	-	NC_000018.10:g.75285684T>C	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg94Gln	rs200092409	missense variant	-	NC_000018.10:g.75285688G>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg94Pro	rs200092409	missense variant	-	NC_000018.10:g.75285688G>C	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu95Lys	rs377578290	missense variant	-	NC_000018.10:g.75285690G>A	ESP,TOPMed
TSHZ1	Q6ZSZ6	p.Lys97Glu	rs766523765	missense variant	-	NC_000018.10:g.75285696A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asp99Ala	rs1190450313	missense variant	-	NC_000018.10:g.75285703A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Asp99Tyr	rs776426456	missense variant	-	NC_000018.10:g.75285702G>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro100Leu	rs368756235	missense variant	-	NC_000018.10:g.75285706C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln101Lys	rs1231450058	missense variant	-	NC_000018.10:g.75285708C>A	TOPMed
TSHZ1	Q6ZSZ6	p.Gln101Arg	rs1171469082	missense variant	-	NC_000018.10:g.75285709A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Gln101His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285710G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Cys102Tyr	rs758247368	missense variant	-	NC_000018.10:g.75285712G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Cys102Gly	RCV000325232	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285711T>G	ClinVar
TSHZ1	Q6ZSZ6	p.Cys102Gly	rs886054112	missense variant	-	NC_000018.10:g.75285711T>G	-
TSHZ1	Q6ZSZ6	p.Pro103Thr	rs1432872978	missense variant	-	NC_000018.10:g.75285714C>A	gnomAD
TSHZ1	Q6ZSZ6	p.Asp104Asn	rs547216461	missense variant	-	NC_000018.10:g.75285717G>A	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Val106Ile	rs377724189	missense variant	-	NC_000018.10:g.75285723G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser107Thr	COSM3527626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75285726T>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ser107Leu	rs745502104	missense variant	-	NC_000018.10:g.75285727C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro109Ser	rs1002771160	missense variant	-	NC_000018.10:g.75285732C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Pro109Ala	rs1002771160	missense variant	-	NC_000018.10:g.75285732C>G	TOPMed
TSHZ1	Q6ZSZ6	p.Leu113Gln	rs909980531	missense variant	-	NC_000018.10:g.75285745T>A	TOPMed
TSHZ1	Q6ZSZ6	p.Ala114Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285747G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Gln115Arg	rs748707722	missense variant	-	NC_000018.10:g.75285751A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gln115His	rs1280445395	missense variant	-	NC_000018.10:g.75285752G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ile116Val	rs772525249	missense variant	-	NC_000018.10:g.75285753A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys117Thr	rs149872994	missense variant	-	NC_000018.10:g.75285757A>C	ESP
TSHZ1	Q6ZSZ6	p.Ala118Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285760C>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Tyr120Ser	rs747035582	missense variant	-	NC_000018.10:g.75285766A>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr120Cys	rs747035582	missense variant	-	NC_000018.10:g.75285766A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asn122Ser	rs1421870612	missense variant	-	NC_000018.10:g.75285772A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn122Asp	rs961736592	missense variant	-	NC_000018.10:g.75285771A>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Phe124Leu	rs1452836402	missense variant	-	NC_000018.10:g.75285779C>A	gnomAD
TSHZ1	Q6ZSZ6	p.Glu126Lys	rs371623190	missense variant	-	NC_000018.10:g.75285783G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Cys128Ser	rs1445214276	missense variant	-	NC_000018.10:g.75285790G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ser131Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285799G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ala133Val	rs775100022	missense variant	-	NC_000018.10:g.75285805C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu134Val	rs1344549331	missense variant	-	NC_000018.10:g.75285807C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asp135Tyr	rs1431108643	missense variant	-	NC_000018.10:g.75285810G>T	gnomAD
TSHZ1	Q6ZSZ6	p.Leu136Phe	rs762980310	missense variant	-	NC_000018.10:g.75285815A>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys137Glu	rs764058077	missense variant	-	NC_000018.10:g.75285816A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser139Leu	rs202178783	missense variant	-	NC_000018.10:g.75285823C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser141Cys	rs767104492	missense variant	-	NC_000018.10:g.75285829C>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr142Pro	rs755669818	missense variant	-	NC_000018.10:g.75285831A>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr142Ile	rs779363710	missense variant	-	NC_000018.10:g.75285832C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr142Ser	rs779363710	missense variant	-	NC_000018.10:g.75285832C>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser144Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285838G>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Thr145Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75285841C>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Asn146Ser	rs747514228	missense variant	-	NC_000018.10:g.75285844A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asp147Asn	rs781109773	missense variant	-	NC_000018.10:g.75285846G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala148Val	rs866569267	missense variant	-	NC_000018.10:g.75285850C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ala148Asp	rs866569267	missense variant	-	NC_000018.10:g.75285850C>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ala148Thr	rs1306985734	missense variant	-	NC_000018.10:g.75285849G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ser149Ile	rs1407106902	missense variant	-	NC_000018.10:g.75285853G>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser149Thr	rs1407106902	missense variant	-	NC_000018.10:g.75285853G>C	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala155Thr	rs769868532	missense variant	-	NC_000018.10:g.75285870G>A	ExAC,TOPMed
TSHZ1	Q6ZSZ6	p.Ala155Val	rs775361847	missense variant	-	NC_000018.10:g.75285871C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro156Thr	RCV000330866	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285873C>A	ClinVar
TSHZ1	Q6ZSZ6	p.Pro156Leu	rs774469127	missense variant	-	NC_000018.10:g.75285874C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro156Ala	rs138506259	missense variant	-	NC_000018.10:g.75285873C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro156Thr	rs138506259	missense variant	-	NC_000018.10:g.75285873C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr157Asn	rs200439069	missense variant	-	NC_000018.10:g.75285877C>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr157Pro	rs761820099	missense variant	-	NC_000018.10:g.75285876A>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr157Ile	rs200439069	missense variant	-	NC_000018.10:g.75285877C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr157Ala	rs761820099	missense variant	-	NC_000018.10:g.75285876A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro158Ser	rs934396009	missense variant	-	NC_000018.10:g.75285879C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Thr159Pro	rs760376340	missense variant	-	NC_000018.10:g.75285882A>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro160Ser	rs753518063	missense variant	-	NC_000018.10:g.75285885C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro161Arg	rs778084273	missense variant	-	NC_000018.10:g.75285889C>G	ExAC
TSHZ1	Q6ZSZ6	p.Pro161Ser	rs202032549	missense variant	-	NC_000018.10:g.75285888C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr162Pro	rs745870098	missense variant	-	NC_000018.10:g.75285891A>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Cys163Arg	rs1234528553	missense variant	-	NC_000018.10:g.75285894T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Val165Phe	rs373873766	missense variant	-	NC_000018.10:g.75285900G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val165Ile	rs373873766	missense variant	-	NC_000018.10:g.75285900G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val165Leu	rs373873766	missense variant	-	NC_000018.10:g.75285900G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val165Ala	rs1453570708	missense variant	-	NC_000018.10:g.75285901T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ser166Arg	rs1232421520	missense variant	-	NC_000018.10:g.75285903A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ser166Thr	rs1470452735	missense variant	-	NC_000018.10:g.75285904G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Thr167Ile	rs1022888877	missense variant	-	NC_000018.10:g.75285907C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Thr167Pro	rs1415372936	missense variant	-	NC_000018.10:g.75285906A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Thr168Pro	rs1165423281	missense variant	-	NC_000018.10:g.75285909A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Thr168Ile	rs112669427	missense variant	-	NC_000018.10:g.75285910C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr168Ile	RCV000281581	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285910C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Thr168Ile	RCV000434334	missense variant	-	NC_000018.10:g.75285910C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Gly169Ala	rs1335905120	missense variant	-	NC_000018.10:g.75285913G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Gly169Arg	rs1327568940	missense variant	-	NC_000018.10:g.75285912G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Pro170Leu	rs1290693420	missense variant	-	NC_000018.10:g.75285916C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Thr171Pro	rs1354118519	missense variant	-	NC_000018.10:g.75285918A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Thr172Met	rs961482761	missense variant	-	NC_000018.10:g.75285922C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr174Lys	rs771834081	missense variant	-	NC_000018.10:g.75285928C>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr174Met	rs771834081	missense variant	-	NC_000018.10:g.75285928C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser176Asn	rs1184449769	missense variant	-	NC_000018.10:g.75285934G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser176Thr	rs1184449769	missense variant	-	NC_000018.10:g.75285934G>C	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr177Ala	rs1255274204	missense variant	-	NC_000018.10:g.75285936A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Thr177Ser	rs765912311	missense variant	-	NC_000018.10:g.75285937C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser178Arg	rs955528521	missense variant	-	NC_000018.10:g.75285941C>G	TOPMed
TSHZ1	Q6ZSZ6	p.Cys179Phe	rs776308822	missense variant	-	NC_000018.10:g.75285943G>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Cys179Arg	rs12970790	missense variant	-	NC_000018.10:g.75285942T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Cys179Ser	rs12970790	missense variant	-	NC_000018.10:g.75285942T>A	gnomAD
TSHZ1	Q6ZSZ6	p.Cys179Tyr	rs776308822	missense variant	-	NC_000018.10:g.75285943G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser180Gly	rs1474220621	missense variant	-	NC_000018.10:g.75285945A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Ser182Asn	rs1431033104	missense variant	-	NC_000018.10:g.75285952G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ser182Gly	rs201448115	missense variant	-	NC_000018.10:g.75285951A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser182Gly	RCV000372806	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75285951A>G	ClinVar
TSHZ1	Q6ZSZ6	p.Thr183Pro	rs764464385	missense variant	-	NC_000018.10:g.75285954A>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser184Asn	rs545911090	missense variant	-	NC_000018.10:g.75285958G>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr188Ala	rs181619760	missense variant	-	NC_000018.10:g.75285969A>G	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr188Ser	rs750935368	missense variant	-	NC_000018.10:g.75285970C>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser190Cys	rs1340364608	missense variant	-	NC_000018.10:g.75285975A>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ser190Asn	rs1207327266	missense variant	-	NC_000018.10:g.75285976G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ser192Cys	rs377076476	missense variant	-	NC_000018.10:g.75285981A>T	ESP,TOPMed
TSHZ1	Q6ZSZ6	p.Ser192Thr	rs749539839	missense variant	-	NC_000018.10:g.75285982G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser193Ile	rs1257997947	missense variant	-	NC_000018.10:g.75285985G>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ser193Arg	rs1445009874	missense variant	-	NC_000018.10:g.75285986C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Ser194Arg	rs779759428	missense variant	-	NC_000018.10:g.75285989C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Gly196Arg	rs778854634	missense variant	-	NC_000018.10:g.75285993G>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly196Glu	rs771885466	missense variant	-	NC_000018.10:g.75285994G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly196Ala	rs771885466	missense variant	-	NC_000018.10:g.75285994G>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly196Arg	rs778854634	missense variant	-	NC_000018.10:g.75285993G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp198Asn	rs770397134	missense variant	-	NC_000018.10:g.75285999G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Trp199Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286004G>C	NCI-TCGA
TSHZ1	Q6ZSZ6	p.His200Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286005C>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ala202Gly	rs1404996531	missense variant	-	NC_000018.10:g.75286012C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Leu204Met	rs759222660	missense variant	-	NC_000018.10:g.75286017C>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala205Ser	rs1419873896	missense variant	-	NC_000018.10:g.75286020G>T	TOPMed
TSHZ1	Q6ZSZ6	p.Lys206Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.75286023A>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Thr207Met	rs150393290	missense variant	-	NC_000018.10:g.75286027C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln209Ter	rs1347322347	stop gained	-	NC_000018.10:g.75286032C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Gln209His	rs1235137155	missense variant	-	NC_000018.10:g.75286034G>T	gnomAD
TSHZ1	Q6ZSZ6	p.Thr211Ala	rs750938876	missense variant	-	NC_000018.10:g.75286038A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr211Met	rs756592040	missense variant	-	NC_000018.10:g.75286039C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr211Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286038A>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ser213Leu	rs755263657	missense variant	-	NC_000018.10:g.75286045C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr214Cys	rs752961161	missense variant	-	NC_000018.10:g.75286048A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr214His	rs1257530290	missense variant	-	NC_000018.10:g.75286047T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Gly215Arg	rs1454286177	missense variant	-	NC_000018.10:g.75286050G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Gly215Glu	rs1288344570	missense variant	-	NC_000018.10:g.75286051G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Leu217His	rs1379833627	missense variant	-	NC_000018.10:g.75286057T>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu219Gln	rs773607044	missense variant	-	NC_000018.10:g.75286062G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ser221Gly	rs1389926385	missense variant	-	NC_000018.10:g.75286068A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Leu222Pro	rs1324068999	missense variant	-	NC_000018.10:g.75286072T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Phe223Cys	rs1387386021	missense variant	-	NC_000018.10:g.75286075T>G	gnomAD
TSHZ1	Q6ZSZ6	p.Phe223Leu	rs1303527933	missense variant	-	NC_000018.10:g.75286076C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Ser224Gly	rs1298247199	missense variant	-	NC_000018.10:g.75286077A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Val226Met	rs1261089061	missense variant	-	NC_000018.10:g.75286083G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu228His	rs769283757	missense variant	-	NC_000018.10:g.75286090T>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr229His	rs549948739	missense variant	-	NC_000018.10:g.75286092T>C	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Arg230Gly	rs201310318	missense variant	-	NC_000018.10:g.75286095C>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg230Cys	rs201310318	missense variant	-	NC_000018.10:g.75286095C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg230His	rs146152419	missense variant	-	NC_000018.10:g.75286096G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asn233Asp	rs761091881	missense variant	-	NC_000018.10:g.75286104A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asn233Lys	rs1372010188	missense variant	-	NC_000018.10:g.75286106C>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asn233Ser	rs1181795634	missense variant	-	NC_000018.10:g.75286105A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Lys234Gln	rs1461987765	missense variant	-	NC_000018.10:g.75286107A>C	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly237Asp	COSM3970627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286117G>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Gly237Ser	rs1459094333	missense variant	-	NC_000018.10:g.75286116G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ser238Phe	COSM438386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286120C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Val239Ile	rs140202650	missense variant	-	NC_000018.10:g.75286122G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Phe240Val	rs1458648518	missense variant	-	NC_000018.10:g.75286125T>G	gnomAD
TSHZ1	Q6ZSZ6	p.Thr241Met	rs551915700	missense variant	-	NC_000018.10:g.75286129C>T	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr241Lys	rs551915700	missense variant	-	NC_000018.10:g.75286129C>A	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala243Ser	rs757158510	missense variant	-	NC_000018.10:g.75286134G>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala243Thr	rs757158510	missense variant	-	NC_000018.10:g.75286134G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser244Ile	rs368121980	missense variant	-	NC_000018.10:g.75286138G>T	ESP,TOPMed
TSHZ1	Q6ZSZ6	p.Lys245Gln	rs1352257685	missense variant	-	NC_000018.10:g.75286140A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Arg247Gln	rs776951771	missense variant	-	NC_000018.10:g.75286147G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg247Trp	rs781166444	missense variant	-	NC_000018.10:g.75286146C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg247Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286147G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Lys249ArgPheSerTerUnkUnk	COSM1389751	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.75286152_75286153AA>-	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ser252Cys	COSM115706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286161A>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ser252Arg	rs1321918679	missense variant	-	NC_000018.10:g.75286163T>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asp256Asn	rs748921103	missense variant	-	NC_000018.10:g.75286173G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr257Met	rs1302703847	missense variant	-	NC_000018.10:g.75286177C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Thr262Met	rs760100606	missense variant	-	NC_000018.10:g.75286192C>T	ExAC
TSHZ1	Q6ZSZ6	p.His264Arg	COSM1325578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286198A>G	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Met265Ile	rs763094006	missense variant	-	NC_000018.10:g.75286202G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu267Lys	rs751720440	missense variant	-	NC_000018.10:g.75286206G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr268Ile	rs1372274658	missense variant	-	NC_000018.10:g.75286210C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly269Ala	rs1412905140	missense variant	-	NC_000018.10:g.75286213G>C	gnomAD
TSHZ1	Q6ZSZ6	p.His270Arg	rs1430952020	missense variant	-	NC_000018.10:g.75286216A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Arg272Leu	COSM1389752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286222G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Arg272Cys	rs1292447374	missense variant	-	NC_000018.10:g.75286221C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Arg272His	rs568766536	missense variant	-	NC_000018.10:g.75286222G>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp273Tyr	rs1229838992	missense variant	-	NC_000018.10:g.75286224G>T	gnomAD
TSHZ1	Q6ZSZ6	p.Asp274Asn	rs750380313	missense variant	-	NC_000018.10:g.75286227G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp277His	rs202083605	missense variant	-	NC_000018.10:g.75286236G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys278Asn	COSM989928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286241G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Lys278Glu	rs1213497383	missense variant	-	NC_000018.10:g.75286239A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Asp279Gly	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286243A>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ser280Phe	rs1209433853	missense variant	-	NC_000018.10:g.75286246C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ser280Pro	rs1348822867	missense variant	-	NC_000018.10:g.75286245T>C	TOPMed
TSHZ1	Q6ZSZ6	p.Glu281Gln	rs778692508	missense variant	-	NC_000018.10:g.75286248G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu281Lys	rs778692508	missense variant	-	NC_000018.10:g.75286248G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu281Asp	rs1183966876	missense variant	-	NC_000018.10:g.75286250G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Lys284Arg	rs372615647	missense variant	-	NC_000018.10:g.75286258A>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg285Lys	rs1169274249	missense variant	-	NC_000018.10:g.75286261G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Trp286Ter	RCV000024185	nonsense	Aural atresia, congenital (CAA)	NC_000018.10:g.75286265G>A	ClinVar
TSHZ1	Q6ZSZ6	p.Trp286Ter	rs730882070	stop gained	Aural atresia, congenital (caa)	NC_000018.10:g.75286265G>A	-
TSHZ1	Q6ZSZ6	p.Ser287Thr	rs1214005492	missense variant	-	NC_000018.10:g.75286266T>A	gnomAD
TSHZ1	Q6ZSZ6	p.Arg292Cys	COSM4073292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286281C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Arg292His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286282G>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ser293Phe	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286285C>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Met297Leu	rs1428649136	missense variant	-	NC_000018.10:g.75286296A>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met297Ile	rs1007076618	missense variant	-	NC_000018.10:g.75286298G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Glu298Asp	rs770358957	missense variant	-	NC_000018.10:g.75286301G>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys300Thr	rs1286925513	missense variant	-	NC_000018.10:g.75286306A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Glu301Lys	rs1360813028	missense variant	-	NC_000018.10:g.75286308G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Gln304Glu	rs1172693132	missense variant	-	NC_000018.10:g.75286317C>G	TOPMed
TSHZ1	Q6ZSZ6	p.Cys309Tyr	rs763155351	missense variant	-	NC_000018.10:g.75286333G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Met310Val	rs1232945806	missense variant	-	NC_000018.10:g.75286335A>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr311Cys	rs1278450624	missense variant	-	NC_000018.10:g.75286339A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Tyr311Phe	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286339A>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Cys312Tyr	rs375914464	missense variant	-	NC_000018.10:g.75286342G>A	ESP,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His314Arg	rs774676680	missense variant	-	NC_000018.10:g.75286348A>G	ExAC
TSHZ1	Q6ZSZ6	p.His314Tyr	rs762943761	missense variant	-	NC_000018.10:g.75286347C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser315Thr	rs200766154	missense variant	-	NC_000018.10:g.75286350T>A	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Met326Val	rs754555813	missense variant	-	NC_000018.10:g.75286383A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys330Arg	rs778262740	missense variant	-	NC_000018.10:g.75286396A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr332Asp	rs927112246	missense variant	-	NC_000018.10:g.75286401T>G	TOPMed
TSHZ1	Q6ZSZ6	p.Gln333Arg	rs758085480	missense variant	-	NC_000018.10:g.75286405A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gln333Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286405A>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Val335Leu	rs1261433402	missense variant	-	NC_000018.10:g.75286410G>T	TOPMed
TSHZ1	Q6ZSZ6	p.Val341Met	rs1368886222	missense variant	-	NC_000018.10:g.75286428G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ala343Thr	rs1282584271	missense variant	-	NC_000018.10:g.75286434G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ile344Ser	rs1316228842	missense variant	-	NC_000018.10:g.75286438T>G	TOPMed
TSHZ1	Q6ZSZ6	p.Thr345Pro	rs1328847317	missense variant	-	NC_000018.10:g.75286440A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Pro349Leu	COSM3891339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286453C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Pro349Arg	rs1209758262	missense variant	-	NC_000018.10:g.75286453C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Pro349Ser	rs1417628031	missense variant	-	NC_000018.10:g.75286452C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Thr351Asn	rs1467327038	missense variant	-	NC_000018.10:g.75286459C>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr351Ile	rs1467327038	missense variant	-	NC_000018.10:g.75286459C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys352Arg	rs1311867732	missense variant	-	NC_000018.10:g.75286462A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Arg354Trp	RCV000308146	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286467C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Arg354Gln	rs768800266	missense variant	-	NC_000018.10:g.75286468G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg354Trp	rs144240769	missense variant	-	NC_000018.10:g.75286467C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala355Val	rs774253030	missense variant	-	NC_000018.10:g.75286471C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln357Lys	rs767665954	missense variant	-	NC_000018.10:g.75286476C>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu359Gln	rs773409617	missense variant	-	NC_000018.10:g.75286483T>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala360Val	rs760530875	missense variant	-	NC_000018.10:g.75286486C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro361Ser	rs372094271	missense variant	-	NC_000018.10:g.75286488C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro361Leu	rs759344933	missense variant	-	NC_000018.10:g.75286489C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro361His	rs759344933	missense variant	-	NC_000018.10:g.75286489C>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro361Ter	RCV000024184	frameshift	Aural atresia, congenital (CAA)	NC_000018.10:g.75286488_75286489insA	ClinVar
TSHZ1	Q6ZSZ6	p.Pro362Ser	rs1185658846	missense variant	-	NC_000018.10:g.75286491C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Pro362Leu	rs764835885	missense variant	-	NC_000018.10:g.75286492C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro362Arg	rs764835885	missense variant	-	NC_000018.10:g.75286492C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Cys363AlaPheSerTerUnkUnk	COSM296533	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.75286488C>-	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Cys363Tyr	rs1332306099	missense variant	-	NC_000018.10:g.75286495G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Cys363LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.75286487_75286488insC	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Pro367Ser	rs1262731889	missense variant	-	NC_000018.10:g.75286506C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Gly369Val	COSM708926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286513G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Met370Thr	rs751256498	missense variant	-	NC_000018.10:g.75286516T>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met370Lys	rs751256498	missense variant	-	NC_000018.10:g.75286516T>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met370Val	rs371279015	missense variant	-	NC_000018.10:g.75286515A>G	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala371Gly	rs1382059595	missense variant	-	NC_000018.10:g.75286519C>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala371Val	rs1382059595	missense variant	-	NC_000018.10:g.75286519C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala372Val	rs749830078	missense variant	-	NC_000018.10:g.75286522C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala372Thr	rs574385316	missense variant	-	NC_000018.10:g.75286521G>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu373Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286526G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Glu373Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286524G>C	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Val374Met	rs768974519	missense variant	-	NC_000018.10:g.75286527G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala375Thr	rs778973516	missense variant	-	NC_000018.10:g.75286530G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala375Val	rs1453340173	missense variant	-	NC_000018.10:g.75286531C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ala375Ser	rs778973516	missense variant	-	NC_000018.10:g.75286530G>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu378Lys	COSM474044	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286539G>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Glu378Gln	rs772133866	missense variant	-	NC_000018.10:g.75286539G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asp382His	COSM6149029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286551G>C	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Asp382Val	rs770781498	missense variant	-	NC_000018.10:g.75286552A>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asp382Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286551G>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Gln383Lys	rs776251738	missense variant	-	NC_000018.10:g.75286554C>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gln383His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286556G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Lys384Arg	rs759524342	missense variant	-	NC_000018.10:g.75286558A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala386Val	rs1007375979	missense variant	-	NC_000018.10:g.75286564C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Ala386Thr	rs765027625	missense variant	-	NC_000018.10:g.75286563G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asn387Ser	rs1238757048	missense variant	-	NC_000018.10:g.75286567A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Pro388Ser	rs200266026	missense variant	-	NC_000018.10:g.75286569C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro388Leu	rs762622920	missense variant	-	NC_000018.10:g.75286570C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro388Ser	RCV000313842	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286569C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Tyr389His	rs1161784091	missense variant	-	NC_000018.10:g.75286572T>C	TOPMed
TSHZ1	Q6ZSZ6	p.Val390Ile	RCV000274409	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286575G>A	ClinVar
TSHZ1	Q6ZSZ6	p.Val390Asp	rs780468421	missense variant	-	NC_000018.10:g.75286576T>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Val390Leu	rs145008445	missense variant	-	NC_000018.10:g.75286575G>C	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val390Ile	rs145008445	missense variant	-	NC_000018.10:g.75286575G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr391Met	rs754088993	missense variant	-	NC_000018.10:g.75286579C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro392Ser	rs1358777817	missense variant	-	NC_000018.10:g.75286581C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Pro392Ala	rs1358777817	missense variant	-	NC_000018.10:g.75286581C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn393Ser	rs1274071911	missense variant	-	NC_000018.10:g.75286585A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Arg395Cys	rs956928502	missense variant	-	NC_000018.10:g.75286590C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg395His	rs748622384	missense variant	-	NC_000018.10:g.75286591G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly397Arg	rs777780760	missense variant	-	NC_000018.10:g.75286596G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr398Ter	rs770993914	stop gained	-	NC_000018.10:g.75286601C>A	ExAC
TSHZ1	Q6ZSZ6	p.Gln399His	rs1369793405	missense variant	-	NC_000018.10:g.75286604G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Asn400Ser	rs776499718	missense variant	-	NC_000018.10:g.75286606A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala402Thr	rs35028697	missense variant	-	NC_000018.10:g.75286611G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala402Val	rs1170965980	missense variant	-	NC_000018.10:g.75286612C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Thr405Asn	rs1437647186	missense variant	-	NC_000018.10:g.75286621C>A	gnomAD
TSHZ1	Q6ZSZ6	p.Glu409Lys	rs1158063890	missense variant	-	NC_000018.10:g.75286632G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg411His	rs1342458618	missense variant	-	NC_000018.10:g.75286639G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg411Cys	rs148944812	missense variant	-	NC_000018.10:g.75286638C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg411Gly	rs148944812	missense variant	-	NC_000018.10:g.75286638C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala413Val	COSM4073296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286645C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Gly422Asp	rs1230710348	missense variant	-	NC_000018.10:g.75286672G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ser423Thr	rs750082958	missense variant	-	NC_000018.10:g.75286675G>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser423Gly	rs997870682	missense variant	-	NC_000018.10:g.75286674A>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His425Gln	rs376372721	missense variant	-	NC_000018.10:g.75286682C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His425Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286680C>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Asp426Asn	rs1025783310	missense variant	-	NC_000018.10:g.75286683G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Asp426His	rs1025783310	missense variant	-	NC_000018.10:g.75286683G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Thr427Met	rs369060962	missense variant	-	NC_000018.10:g.75286687C>T	ESP,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr427Ser	rs765563523	missense variant	-	NC_000018.10:g.75286686A>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu428Arg	rs758861199	missense variant	-	NC_000018.10:g.75286690T>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr432Ile	rs747005684	missense variant	-	NC_000018.10:g.75286702C>T	ExAC
TSHZ1	Q6ZSZ6	p.Ala433Val	rs200472754	missense variant	-	NC_000018.10:g.75286705C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala433Thr	rs373817259	missense variant	-	NC_000018.10:g.75286704G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met435Ile	rs148126168	missense variant	-	NC_000018.10:g.75286712G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met435Ile	rs148126168	missense variant	-	NC_000018.10:g.75286712G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met436Val	rs1455828720	missense variant	-	NC_000018.10:g.75286713A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Gly439Arg	rs768654001	missense variant	-	NC_000018.10:g.75286722G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His440Asn	rs1453890395	missense variant	-	NC_000018.10:g.75286725C>A	TOPMed
TSHZ1	Q6ZSZ6	p.His440Pro	rs774327671	missense variant	-	NC_000018.10:g.75286726A>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys443Gln	rs767021398	missense variant	-	NC_000018.10:g.75286734A>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr445Ser	rs772789282	missense variant	-	NC_000018.10:g.75286741C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr445Ile	COSM3527634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286741C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Thr446Asn	rs1439305530	missense variant	-	NC_000018.10:g.75286744C>A	TOPMed
TSHZ1	Q6ZSZ6	p.Ser447Leu	rs568803492	missense variant	-	NC_000018.10:g.75286747C>T	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys450Arg	rs145021024	missense variant	-	NC_000018.10:g.75286756A>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys450GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.75286754_75286755TA>-	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Lys451Asn	rs1191181662	missense variant	-	NC_000018.10:g.75286760G>T	gnomAD
TSHZ1	Q6ZSZ6	p.Lys451Thr	rs1465992697	missense variant	-	NC_000018.10:g.75286759A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Lys453Arg	rs757324946	missense variant	-	NC_000018.10:g.75286765A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gln454Lys	rs1379892884	missense variant	-	NC_000018.10:g.75286767C>A	gnomAD
TSHZ1	Q6ZSZ6	p.Val456Gly	rs1282026753	missense variant	-	NC_000018.10:g.75286774T>G	TOPMed
TSHZ1	Q6ZSZ6	p.Leu457Val	rs201275095	missense variant	-	NC_000018.10:g.75286776C>G	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asp458His	rs913098293	missense variant	-	NC_000018.10:g.75286779G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Asp458Asn	rs913098293	missense variant	-	NC_000018.10:g.75286779G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Val460Met	rs1006850628	missense variant	-	NC_000018.10:g.75286785G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Glu462Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286791G>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Glu463Asp	rs1445054792	missense variant	-	NC_000018.10:g.75286796G>C	TOPMed
TSHZ1	Q6ZSZ6	p.Lys464Asn	rs1291854230	missense variant	-	NC_000018.10:g.75286799G>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ser467Tyr	rs200209481	missense variant	-	NC_000018.10:g.75286807C>A	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro469Ala	rs1032477742	missense variant	-	NC_000018.10:g.75286812C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Pro469Ser	rs1032477742	missense variant	-	NC_000018.10:g.75286812C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Pro471Leu	rs142270240	missense variant	-	NC_000018.10:g.75286819C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro472Leu	rs1227501734	missense variant	-	NC_000018.10:g.75286822C>T	gnomAD
TSHZ1	Q6ZSZ6	p.His475Asp	COSM1480469	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286830C>G	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.His475Asn	rs1330727903	missense variant	-	NC_000018.10:g.75286830C>A	gnomAD
TSHZ1	Q6ZSZ6	p.His475Arg	rs1211506666	missense variant	-	NC_000018.10:g.75286831A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Thr476Met	rs760324412	missense variant	-	NC_000018.10:g.75286834C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg477Trp	rs201450598	missense variant	-	NC_000018.10:g.75286836C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg477Gln	rs763375361	missense variant	-	NC_000018.10:g.75286837G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro479Leu	rs373073484	missense variant	-	NC_000018.10:g.75286843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro479Gln	rs373073484	missense variant	-	NC_000018.10:g.75286843C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala480Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286846C>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ser482Ile	rs762335678	missense variant	-	NC_000018.10:g.75286852G>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser482Thr	rs762335678	missense variant	-	NC_000018.10:g.75286852G>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser482Gly	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286851A>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Lys485Arg	rs1364338688	missense variant	-	NC_000018.10:g.75286861A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Gln486Arg	rs767528792	missense variant	-	NC_000018.10:g.75286864A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asp488Asn	rs375952442	missense variant	-	NC_000018.10:g.75286869G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser489Cys	rs370337586	missense variant	-	NC_000018.10:g.75286873C>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser489Phe	rs370337586	missense variant	-	NC_000018.10:g.75286873C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro490His	rs1368608444	missense variant	-	NC_000018.10:g.75286876C>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala491Pro	rs754868195	missense variant	-	NC_000018.10:g.75286878G>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala491Thr	rs754868195	missense variant	-	NC_000018.10:g.75286878G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala491Val	rs748066897	missense variant	-	NC_000018.10:g.75286879C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly492Val	COSM708924	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286882G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Gly492Arg	rs1288290484	missense variant	-	NC_000018.10:g.75286881G>C	TOPMed
TSHZ1	Q6ZSZ6	p.Ser493Phe	rs1311482105	missense variant	-	NC_000018.10:g.75286885C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Thr494Met	rs181573727	missense variant	-	NC_000018.10:g.75286888C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr495Ser	rs1271911752	missense variant	-	NC_000018.10:g.75286891C>G	gnomAD
TSHZ1	Q6ZSZ6	p.SerGlu496Ter	rs762026147	stop gained	-	NC_000018.10:g.75286894_75286896del	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu498Gln	rs1205152223	missense variant	-	NC_000018.10:g.75286899G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Lys500Glu	rs770425179	missense variant	-	NC_000018.10:g.75286905A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu501Gly	rs1484204945	missense variant	-	NC_000018.10:g.75286909A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Pro502Ser	rs1180508098	missense variant	-	NC_000018.10:g.75286911C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Glu503Lys	rs776306765	missense variant	-	NC_000018.10:g.75286914G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys504Glu	rs1166958983	missense variant	-	NC_000018.10:g.75286917A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Pro507Leu	rs774741979	missense variant	-	NC_000018.10:g.75286927C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro507Ala	rs768927257	missense variant	-	NC_000018.10:g.75286926C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Val509Met	RCV000316491	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286932G>A	ClinVar
TSHZ1	Q6ZSZ6	p.Val509Met	rs199588905	missense variant	-	NC_000018.10:g.75286932G>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val509Glu	rs374017862	missense variant	-	NC_000018.10:g.75286933T>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp512Gly	rs1294756253	missense variant	-	NC_000018.10:g.75286942A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asp512Asn	rs755184710	missense variant	-	NC_000018.10:g.75286941G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala513Thr	RCV000380422	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75286944G>A	ClinVar
TSHZ1	Q6ZSZ6	p.Ala513Thr	rs33930274	missense variant	-	NC_000018.10:g.75286944G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala513Val	rs201058634	missense variant	-	NC_000018.10:g.75286945C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu514Lys	rs1208428607	missense variant	-	NC_000018.10:g.75286947G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Lys515Asn	rs1217237239	missense variant	-	NC_000018.10:g.75286952G>C	TOPMed
TSHZ1	Q6ZSZ6	p.Lys515Met	rs370245736	missense variant	-	NC_000018.10:g.75286951A>T	ESP,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ile516Phe	rs375468249	missense variant	-	NC_000018.10:g.75286953A>T	ESP,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu518Gln	rs1448869172	missense variant	-	NC_000018.10:g.75286959G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Glu519Val	rs748609272	missense variant	-	NC_000018.10:g.75286963A>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu519Lys	rs774595432	missense variant	-	NC_000018.10:g.75286962G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser520Arg	rs372374588	missense variant	-	NC_000018.10:g.75286967T>A	ESP,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser520Arg	rs372374588	missense variant	-	NC_000018.10:g.75286967T>G	ESP,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu521Ala	COSM4073298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75286969A>C	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Glu521Lys	rs761213340	missense variant	-	NC_000018.10:g.75286968G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu521Gln	rs761213340	missense variant	-	NC_000018.10:g.75286968G>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp522Gly	rs1207438508	missense variant	-	NC_000018.10:g.75286972A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Pro529Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286992C>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ser530Gly	rs776784661	missense variant	-	NC_000018.10:g.75286995A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser530Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75286996G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Leu532Pro	rs929914775	missense variant	-	NC_000018.10:g.75287002T>C	TOPMed
TSHZ1	Q6ZSZ6	p.Tyr533Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.75287006C>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Pro534Leu	rs771408424	missense variant	-	NC_000018.10:g.75287008C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Arg537Cys	rs530388914	missense variant	-	NC_000018.10:g.75287016C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg537His	rs200622384	missense variant	-	NC_000018.10:g.75287017G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu539Asp	COSM3146677	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287024G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Leu541Gln	rs758255995	missense variant	-	NC_000018.10:g.75287029T>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu541Val	rs1464655347	missense variant	-	NC_000018.10:g.75287028C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asp542Tyr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287031G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Asp543Asn	rs751522757	missense variant	-	NC_000018.10:g.75287034G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser544Asn	rs1039684025	missense variant	-	NC_000018.10:g.75287038G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser544Cys	rs757148723	missense variant	-	NC_000018.10:g.75287037A>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser544Arg	rs780689354	missense variant	-	NC_000018.10:g.75287039C>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro545Thr	rs755572080	missense variant	-	NC_000018.10:g.75287040C>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys546Asn	COSM6083268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287045G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Lys546Asn	COSM6083266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287045G>C	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Gly548Glu	rs779792652	missense variant	-	NC_000018.10:g.75287050G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly548Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287050G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Leu549Val	rs1404566656	missense variant	-	NC_000018.10:g.75287052C>G	TOPMed
TSHZ1	Q6ZSZ6	p.Leu552Ile	COSM264233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287061C>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Lys553Arg	rs1187971370	missense variant	-	NC_000018.10:g.75287065A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Thr558Ile	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287080C>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Val559Ile	rs368302611	missense variant	-	NC_000018.10:g.75287082G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr561Met	rs199773721	missense variant	-	NC_000018.10:g.75287089C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser564Arg	rs777263451	missense variant	-	NC_000018.10:g.75287099C>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly569Ala	rs759728503	missense variant	-	NC_000018.10:g.75287113G>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly569Asp	rs759728503	missense variant	-	NC_000018.10:g.75287113G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala570Thr	rs1229305995	missense variant	-	NC_000018.10:g.75287115G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ala570Val	rs775832071	missense variant	-	NC_000018.10:g.75287116C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro571Ser	rs1220972618	missense variant	-	NC_000018.10:g.75287118C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ser572Thr	rs1247167510	missense variant	-	NC_000018.10:g.75287121T>A	gnomAD
TSHZ1	Q6ZSZ6	p.Pro577His	COSM4073300	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287137C>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Pro577Leu	rs763911616	missense variant	-	NC_000018.10:g.75287137C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro577Ser	rs1490834977	missense variant	-	NC_000018.10:g.75287136C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His580Gln	rs370421851	missense variant	-	NC_000018.10:g.75287147T>G	ESP
TSHZ1	Q6ZSZ6	p.His580Tyr	rs892633153	missense variant	-	NC_000018.10:g.75287145C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Ala581Thr	rs1472704026	missense variant	-	NC_000018.10:g.75287148G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln584His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287159G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Leu585Arg	rs1404200685	missense variant	-	NC_000018.10:g.75287161T>G	gnomAD
TSHZ1	Q6ZSZ6	p.Leu585Phe	rs1013669343	missense variant	-	NC_000018.10:g.75287160C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro586Leu	rs770073499	missense variant	-	NC_000018.10:g.75287164C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly587Asp	rs779379359	missense variant	-	NC_000018.10:g.75287167G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val589Leu	rs200629224	missense variant	-	NC_000018.10:g.75287172G>C	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val589Met	rs200629224	missense variant	-	NC_000018.10:g.75287172G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val589Leu	rs200629224	missense variant	-	NC_000018.10:g.75287172G>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys590Asn	rs1172064145	missense variant	-	NC_000018.10:g.75287177G>T	TOPMed
TSHZ1	Q6ZSZ6	p.Pro591Ala	rs747435496	missense variant	-	NC_000018.10:g.75287178C>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu592Met	rs370414463	missense variant	-	NC_000018.10:g.75287181C>A	ESP,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu592Pro	rs1389196802	missense variant	-	NC_000018.10:g.75287182T>C	TOPMed
TSHZ1	Q6ZSZ6	p.Pro593Leu	rs781774630	missense variant	-	NC_000018.10:g.75287185C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro593Ser	rs148646353	missense variant	-	NC_000018.10:g.75287184C>T	ESP,gnomAD
TSHZ1	Q6ZSZ6	p.Ala594Thr	rs1268647485	missense variant	-	NC_000018.10:g.75287187G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Ala594Glu	rs116096444	missense variant	-	NC_000018.10:g.75287188C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala594Val	rs116096444	missense variant	-	NC_000018.10:g.75287188C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala595Ser	rs775395170	missense variant	-	NC_000018.10:g.75287190G>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala595Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287191C>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Val596Glu	rs774547119	missense variant	-	NC_000018.10:g.75287194T>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val596Ala	rs774547119	missense variant	-	NC_000018.10:g.75287194T>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val596Met	rs139729915	missense variant	-	NC_000018.10:g.75287193G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val599Met	rs145301120	missense variant	-	NC_000018.10:g.75287202G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln602His	rs1365436760	missense variant	-	NC_000018.10:g.75287213G>T	TOPMed
TSHZ1	Q6ZSZ6	p.Gln602Arg	rs371962064	missense variant	-	NC_000018.10:g.75287212A>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro603Leu	rs754522600	missense variant	-	NC_000018.10:g.75287215C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro603Gln	rs754522600	missense variant	-	NC_000018.10:g.75287215C>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr605His	rs757745986	missense variant	-	NC_000018.10:g.75287220T>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala606Thr	rs781364196	missense variant	-	NC_000018.10:g.75287223G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala606Val	rs746420194	missense variant	-	NC_000018.10:g.75287224C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly607Ser	rs1197309297	missense variant	-	NC_000018.10:g.75287226G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Gly608Cys	COSM6083264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287229G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Gly608Ser	rs566661312	missense variant	-	NC_000018.10:g.75287229G>A	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Val609Met	rs144455310	missense variant	-	NC_000018.10:g.75287232G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser611Leu	rs1447093421	missense variant	-	NC_000018.10:g.75287239C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser613Phe	rs975396803	missense variant	-	NC_000018.10:g.75287245C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Ser614Cys	rs140828986	missense variant	-	NC_000018.10:g.75287248C>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala615Ser	rs149729975	missense variant	-	NC_000018.10:g.75287250G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala615Thr	RCV000345923	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287250G>A	ClinVar
TSHZ1	Q6ZSZ6	p.Ala615Thr	rs149729975	missense variant	-	NC_000018.10:g.75287250G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu616Lys	rs759158783	missense variant	-	NC_000018.10:g.75287253G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His617Leu	rs764818545	missense variant	-	NC_000018.10:g.75287257A>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asn618His	rs892500202	missense variant	-	NC_000018.10:g.75287259A>C	TOPMed
TSHZ1	Q6ZSZ6	p.Asn618Lys	rs369108706	missense variant	-	NC_000018.10:g.75287261C>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala619Asp	rs767931372	missense variant	-	NC_000018.10:g.75287263C>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala619Thr	rs758085601	missense variant	-	NC_000018.10:g.75287262G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu621Pro	rs756491979	missense variant	-	NC_000018.10:g.75287269T>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His622Arg	rs749769265	missense variant	-	NC_000018.10:g.75287272A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser623Ala	rs778920635	missense variant	-	NC_000018.10:g.75287274T>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser623Pro	rs778920635	missense variant	-	NC_000018.10:g.75287274T>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro624Ser	rs748370995	missense variant	-	NC_000018.10:g.75287277C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro624Leu	rs1248182928	missense variant	-	NC_000018.10:g.75287278C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ser626Asn	rs773468599	missense variant	-	NC_000018.10:g.75287284G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr628Met	rs148468723	missense variant	-	NC_000018.10:g.75287290C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr628Arg	rs148468723	missense variant	-	NC_000018.10:g.75287290C>G	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr628Lys	rs148468723	missense variant	-	NC_000018.10:g.75287290C>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro629Arg	rs905384004	missense variant	-	NC_000018.10:g.75287293C>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro629Leu	rs905384004	missense variant	-	NC_000018.10:g.75287293C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro629Thr	rs1160642065	missense variant	-	NC_000018.10:g.75287292C>A	TOPMed
TSHZ1	Q6ZSZ6	p.Pro629Ser	rs1160642065	missense variant	-	NC_000018.10:g.75287292C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Pro631Leu	rs201765142	missense variant	-	NC_000018.10:g.75287299C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro631ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.75287291_75287292insC	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Lys633Arg	rs1385689506	missense variant	-	NC_000018.10:g.75287305A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn635Ser	rs1486922015	missense variant	-	NC_000018.10:g.75287311A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Val636Met	rs200947838	missense variant	-	NC_000018.10:g.75287313G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val636Met	RCV000351879	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287313G>A	ClinVar
TSHZ1	Q6ZSZ6	p.Ser637Cys	rs368515677	missense variant	-	NC_000018.10:g.75287317C>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser637Phe	rs368515677	missense variant	-	NC_000018.10:g.75287317C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser637Ala	rs1009799807	missense variant	-	NC_000018.10:g.75287316T>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala638Ser	rs200595144	missense variant	-	NC_000018.10:g.75287319G>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu640Lys	COSM3796523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287325G>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Glu641Val	rs1268382379	missense variant	-	NC_000018.10:g.75287329A>T	gnomAD
TSHZ1	Q6ZSZ6	p.Thr647Met	rs748283144	missense variant	-	NC_000018.10:g.75287347C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly648Asp	COSM989931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287350G>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Lys649Glu	rs1451586870	missense variant	-	NC_000018.10:g.75287352A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn651Ser	rs1018105040	missense variant	-	NC_000018.10:g.75287359A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn651Ile	rs1018105040	missense variant	-	NC_000018.10:g.75287359A>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ile652Thr	rs200181888	missense variant	-	NC_000018.10:g.75287362T>C	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys653Asn	rs1457133058	missense variant	-	NC_000018.10:g.75287366G>T	TOPMed
TSHZ1	Q6ZSZ6	p.Glu655Lys	rs1158623286	missense variant	-	NC_000018.10:g.75287370G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Glu656Asp	rs1161590704	missense variant	-	NC_000018.10:g.75287375G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Glu656Gln	rs1364632347	missense variant	-	NC_000018.10:g.75287373G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Glu656Gly	rs770654656	missense variant	-	NC_000018.10:g.75287374A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Arg657Ser	rs776529264	missense variant	-	NC_000018.10:g.75287378A>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Arg657Gly	rs1387134970	missense variant	-	NC_000018.10:g.75287376A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Pro658Ser	rs761705201	missense variant	-	NC_000018.10:g.75287379C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro658Leu	rs769798292	missense variant	-	NC_000018.10:g.75287380C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro659Ser	rs775558843	missense variant	-	NC_000018.10:g.75287382C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu660Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287385G>C	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Lys661Asn	rs1248776224	missense variant	-	NC_000018.10:g.75287390G>T	TOPMed
TSHZ1	Q6ZSZ6	p.Glu662Lys	rs1318377642	missense variant	-	NC_000018.10:g.75287391G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys663Arg	rs767584895	missense variant	-	NC_000018.10:g.75287395A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser664Gly	rs1264390920	missense variant	-	NC_000018.10:g.75287397A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Leu666Gln	rs55679337	missense variant	-	NC_000018.10:g.75287404T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu666Pro	rs55679337	missense variant	-	NC_000018.10:g.75287404T>C	UniProt,dbSNP
TSHZ1	Q6ZSZ6	p.Leu666Pro	VAR_061926	missense variant	-	NC_000018.10:g.75287404T>C	UniProt
TSHZ1	Q6ZSZ6	p.Leu666Pro	rs55679337	missense variant	-	NC_000018.10:g.75287404T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu666Arg	rs55679337	missense variant	-	NC_000018.10:g.75287404T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu666Pro	RCV000348539	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287404T>C	ClinVar
TSHZ1	Q6ZSZ6	p.Lys668Arg	rs760560761	missense variant	-	NC_000018.10:g.75287410A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Ala669Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287412G>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ala670Val	rs766264706	missense variant	-	NC_000018.10:g.75287416C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser671Phe	rs138822817	missense variant	-	NC_000018.10:g.75287419C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser671Cys	rs138822817	missense variant	-	NC_000018.10:g.75287419C>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro672His	rs1368032787	missense variant	-	NC_000018.10:g.75287422C>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ile673Thr	rs1368659953	missense variant	-	NC_000018.10:g.75287425T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ile673Val	rs376106462	missense variant	-	NC_000018.10:g.75287424A>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu676Asp	rs758456489	missense variant	-	NC_000018.10:g.75287435G>T	ExAC
TSHZ1	Q6ZSZ6	p.Asn677Tyr	COSM3527645	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287436A>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Asn677Ile	rs925147059	missense variant	-	NC_000018.10:g.75287437A>T	TOPMed
TSHZ1	Q6ZSZ6	p.Asn677Asp	rs751761464	missense variant	-	NC_000018.10:g.75287436A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys678Asn	rs140696814	missense variant	-	NC_000018.10:g.75287441A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys678Asn	rs140696814	missense variant	-	NC_000018.10:g.75287441A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp679Glu	rs1433722875	missense variant	-	NC_000018.10:g.75287444T>G	TOPMed
TSHZ1	Q6ZSZ6	p.Phe680Ser	rs745717773	missense variant	-	NC_000018.10:g.75287446T>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro681Arg	rs111787453	missense variant	-	NC_000018.10:g.75287449C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro681Leu	RCV000401602	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287449C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Pro681Leu	rs111787453	missense variant	-	NC_000018.10:g.75287449C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro681Ser	rs1363567170	missense variant	-	NC_000018.10:g.75287448C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Thr683Met	rs148177355	missense variant	-	NC_000018.10:g.75287455C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser687Asn	rs761382436	missense variant	-	NC_000018.10:g.75287467G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly688Arg	rs200159331	missense variant	-	NC_000018.10:g.75287469G>C	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly688Asp	rs1167965736	missense variant	-	NC_000018.10:g.75287470G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Gly688Ser	rs200159331	missense variant	-	NC_000018.10:g.75287469G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro690Leu	rs566747365	missense variant	-	NC_000018.10:g.75287476C>T	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gln691Arg	rs759933957	missense variant	-	NC_000018.10:g.75287479A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys693Arg	rs765563421	missense variant	-	NC_000018.10:g.75287485A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly694Asp	rs1451946257	missense variant	-	NC_000018.10:g.75287488G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Gly694GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.75287487_75287488insA	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Gly694Cys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287487G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ala697Val	COSM3527649	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287497C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ala697Ser	rs753226070	missense variant	-	NC_000018.10:g.75287496G>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu698Lys	rs141935669	missense variant	-	NC_000018.10:g.75287499G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly700Trp	COSM708922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287505G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Lys701Glu	rs1207876656	missense variant	-	NC_000018.10:g.75287508A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Ala702Thr	rs751601396	missense variant	-	NC_000018.10:g.75287511G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala702Val	rs757273037	missense variant	-	NC_000018.10:g.75287512C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys703Arg	rs150674245	missense variant	-	NC_000018.10:g.75287515A>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys703Ile	rs150674245	missense variant	-	NC_000018.10:g.75287515A>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys703GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.75287512_75287513insA	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Lys704Gln	rs1294823052	missense variant	-	NC_000018.10:g.75287517A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Gly706Glu	rs750646695	missense variant	-	NC_000018.10:g.75287524G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro707Leu	rs756026547	missense variant	-	NC_000018.10:g.75287527C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu708Arg	rs1321941164	missense variant	-	NC_000018.10:g.75287530T>G	TOPMed
TSHZ1	Q6ZSZ6	p.Val710Ile	rs1042645109	missense variant	-	NC_000018.10:g.75287535G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val710Asp	rs749182927	missense variant	-	NC_000018.10:g.75287536T>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr712Ala	rs778700134	missense variant	-	NC_000018.10:g.75287541A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro713Arg	rs1421608833	missense variant	-	NC_000018.10:g.75287545C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn714Asp	rs1454474129	missense variant	-	NC_000018.10:g.75287547A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Thr716Ile	rs747758713	missense variant	-	NC_000018.10:g.75287554C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu717Lys	rs1429518493	missense variant	-	NC_000018.10:g.75287556G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Leu719Phe	rs778338534	missense variant	-	NC_000018.10:g.75287562C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu719Val	rs778338534	missense variant	-	NC_000018.10:g.75287562C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu719Arg	rs760271510	missense variant	-	NC_000018.10:g.75287563T>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala721Thr	rs1173259729	missense variant	-	NC_000018.10:g.75287568G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Lys722Glu	rs372728021	missense variant	-	NC_000018.10:g.75287571A>G	ESP,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr724Ala	rs775858487	missense variant	-	NC_000018.10:g.75287577A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr724Pro	rs775858487	missense variant	-	NC_000018.10:g.75287577A>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asn725Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287581A>C	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Gly726Ser	rs764709337	missense variant	-	NC_000018.10:g.75287583G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Cys727Tyr	rs1324529153	missense variant	-	NC_000018.10:g.75287587G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Asn728Lys	rs900583888	missense variant	-	NC_000018.10:g.75287591C>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asn729Thr	rs1280067084	missense variant	-	NC_000018.10:g.75287593A>C	TOPMed
TSHZ1	Q6ZSZ6	p.Gly731Glu	rs1344842996	missense variant	-	NC_000018.10:g.75287599G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Ile732Phe	rs201122666	missense variant	-	NC_000018.10:g.75287601A>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ile732Val	rs201122666	missense variant	-	NC_000018.10:g.75287601A>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met734Leu	RCV000299972	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287607A>C	ClinVar
TSHZ1	Q6ZSZ6	p.Met734Thr	RCV000354796	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287608T>C	ClinVar
TSHZ1	Q6ZSZ6	p.Met734Thr	rs113033195	missense variant	-	NC_000018.10:g.75287608T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met734Leu	rs886054115	missense variant	-	NC_000018.10:g.75287607A>C	-
TSHZ1	Q6ZSZ6	p.His736Arg	rs1019910350	missense variant	-	NC_000018.10:g.75287614A>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His736Gln	rs753718485	missense variant	-	NC_000018.10:g.75287615C>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His736Leu	rs1019910350	missense variant	-	NC_000018.10:g.75287614A>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro738Leu	RCV000259882	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287620C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Pro738Ser	rs754700199	missense variant	-	NC_000018.10:g.75287619C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro738Leu	rs370322226	missense variant	-	NC_000018.10:g.75287620C>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro740Leu	rs757917396	missense variant	-	NC_000018.10:g.75287626C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro740Ala	rs1156420263	missense variant	-	NC_000018.10:g.75287625C>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser741Ala	rs746694676	missense variant	-	NC_000018.10:g.75287628T>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser741Phe	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287629C>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Asn744Asp	COSM4073312	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287637A>G	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Asn744Ser	rs776122943	missense variant	-	NC_000018.10:g.75287638A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro745Gln	rs768894820	missense variant	-	NC_000018.10:g.75287641C>A	ExAC
TSHZ1	Q6ZSZ6	p.Ala748Thr	rs200359947	missense variant	-	NC_000018.10:g.75287649G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu749Ser	rs1238846674	missense variant	-	NC_000018.10:g.75287653T>C	TOPMed
TSHZ1	Q6ZSZ6	p.Leu749Phe	rs974148920	missense variant	-	NC_000018.10:g.75287654G>C	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln750Ter	rs1224380392	stop gained	-	NC_000018.10:g.75287655C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Met753Val	rs754004902	missense variant	-	NC_000018.10:g.75287664A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met753Thr	rs1211177938	missense variant	-	NC_000018.10:g.75287665T>C	TOPMed
TSHZ1	Q6ZSZ6	p.Met753Leu	rs754004902	missense variant	-	NC_000018.10:g.75287664A>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr755Asn	rs886054116	missense variant	-	NC_000018.10:g.75287671C>A	-
TSHZ1	Q6ZSZ6	p.Thr755Asn	RCV000305765	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287671C>A	ClinVar
TSHZ1	Q6ZSZ6	p.Pro763Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287695C>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Val764Met	rs539764315	missense variant	-	NC_000018.10:g.75287697G>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val764Leu	rs539764315	missense variant	-	NC_000018.10:g.75287697G>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser767Leu	rs148699993	missense variant	-	NC_000018.10:g.75287707C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser767Pro	rs144134267	missense variant	-	NC_000018.10:g.75287706T>C	ESP,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp769Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287712G>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Pro770Leu	COSM3357045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287716C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ala772Val	rs756726911	missense variant	-	NC_000018.10:g.75287722C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met773Lys	rs1306610409	missense variant	-	NC_000018.10:g.75287725T>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu774Pro	rs745491609	missense variant	-	NC_000018.10:g.75287728T>C	ExAC,TOPMed
TSHZ1	Q6ZSZ6	p.Tyr775Cys	COSM1389755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287731A>G	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Tyr775Asp	rs1335395931	missense variant	-	NC_000018.10:g.75287730T>G	gnomAD
TSHZ1	Q6ZSZ6	p.Lys776Glu	rs1416115315	missense variant	-	NC_000018.10:g.75287733A>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser778Gly	rs1326694211	missense variant	-	NC_000018.10:g.75287739A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Leu782Arg	rs769074162	missense variant	-	NC_000018.10:g.75287752T>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asp783Glu	rs78626781	missense variant	-	NC_000018.10:g.75287756C>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp783Asn	rs774509221	missense variant	-	NC_000018.10:g.75287754G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro785Leu	rs772759090	missense variant	-	NC_000018.10:g.75287761C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val786Leu	rs760906345	missense variant	-	NC_000018.10:g.75287763G>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Val786Ala	rs770903983	missense variant	-	NC_000018.10:g.75287764T>C	ExAC,TOPMed
TSHZ1	Q6ZSZ6	p.Tyr787Asp	rs200217009	missense variant	-	NC_000018.10:g.75287766T>G	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro788Leu	COSM3527653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287770C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ala789Thr	rs376218267	missense variant	-	NC_000018.10:g.75287772G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr790Ile	rs151202136	missense variant	-	NC_000018.10:g.75287776C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr790Asn	rs151202136	missense variant	-	NC_000018.10:g.75287776C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro791Arg	RCV000360383	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287779C>G	ClinVar
TSHZ1	Q6ZSZ6	p.Pro791Arg	rs141280995	missense variant	-	NC_000018.10:g.75287779C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val792Leu	rs1039462591	missense variant	-	NC_000018.10:g.75287781G>T	gnomAD
TSHZ1	Q6ZSZ6	p.Val792Met	rs1039462591	missense variant	-	NC_000018.10:g.75287781G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Asp796Asn	rs367753067	missense variant	-	NC_000018.10:g.75287793G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp796His	rs367753067	missense variant	-	NC_000018.10:g.75287793G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala797Thr	COSM3527655	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287796G>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ile798Phe	rs779737686	missense variant	-	NC_000018.10:g.75287799A>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ile798Val	rs779737686	missense variant	-	NC_000018.10:g.75287799A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asp799Asn	rs1020952592	missense variant	-	NC_000018.10:g.75287802G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Arg800Cys	rs199676563	missense variant	-	NC_000018.10:g.75287805C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg800Ser	rs199676563	missense variant	-	NC_000018.10:g.75287805C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg800His	rs146830433	missense variant	-	NC_000018.10:g.75287806G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg800Cys	RCV000265801	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287805C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Tyr802Cys	rs747462197	missense variant	-	NC_000018.10:g.75287812A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr803His	rs61732783	missense variant	-	NC_000018.10:g.75287814T>C	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr803Cys	rs1187268308	missense variant	-	NC_000018.10:g.75287815A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Tyr803Asp	rs61732783	missense variant	-	NC_000018.10:g.75287814T>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Tyr803His	RCV000328869	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287814T>C	ClinVar
TSHZ1	Q6ZSZ6	p.Asn805Tyr	rs759826465	missense variant	-	NC_000018.10:g.75287820A>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp807Asn	rs374648821	missense variant	-	NC_000018.10:g.75287826G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro809Leu	rs1229214860	missense variant	-	NC_000018.10:g.75287833C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Ile810Val	rs1341627133	missense variant	-	NC_000018.10:g.75287835A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Thr813Ser	rs1244509797	missense variant	-	NC_000018.10:g.75287845C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Thr813Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287844A>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ser815Thr	rs1463173435	missense variant	-	NC_000018.10:g.75287850T>A	gnomAD
TSHZ1	Q6ZSZ6	p.Lys816Met	COSM6149023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287854A>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Lys816Arg	rs1191585448	missense variant	-	NC_000018.10:g.75287854A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Lys816Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287855G>C	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Asn817Ser	rs898425126	missense variant	-	NC_000018.10:g.75287857A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn817Asp	rs763860858	missense variant	-	NC_000018.10:g.75287856A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro819Leu	rs761584950	missense variant	-	NC_000018.10:g.75287863C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu820Pro	rs943788971	missense variant	-	NC_000018.10:g.75287866T>C	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val821Gly	COSM3891341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287869T>G	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Val824Ala	COSM3527657	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287878T>C	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Val824Met	rs149224107	missense variant	-	NC_000018.10:g.75287877G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp826His	rs143323516	missense variant	-	NC_000018.10:g.75287883G>C	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp826Tyr	rs143323516	missense variant	-	NC_000018.10:g.75287883G>T	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp826Asn	rs143323516	missense variant	-	NC_000018.10:g.75287883G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser827Trp	rs1272925884	missense variant	-	NC_000018.10:g.75287887C>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser827Leu	rs1272925884	missense variant	-	NC_000018.10:g.75287887C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg833Gln	rs781707604	missense variant	-	NC_000018.10:g.75287905G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Arg833Trp	rs771294029	missense variant	-	NC_000018.10:g.75287904C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Arg833Trp	RCV000295029	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287904C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Ala836Thr	RCV000349912	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75287913G>A	ClinVar
TSHZ1	Q6ZSZ6	p.Ala836Thr	rs146956711	missense variant	-	NC_000018.10:g.75287913G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala836Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287914C>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Met838Val	rs144268338	missense variant	-	NC_000018.10:g.75287919A>G	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp839Asn	rs1480320495	missense variant	-	NC_000018.10:g.75287922G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Asp842Asn	rs1225312620	missense variant	-	NC_000018.10:g.75287931G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Met843Val	rs975008159	missense variant	-	NC_000018.10:g.75287934A>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met843Leu	rs975008159	missense variant	-	NC_000018.10:g.75287934A>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val844Glu	rs1158119063	missense variant	-	NC_000018.10:g.75287938T>A	gnomAD
TSHZ1	Q6ZSZ6	p.Val844Leu	rs1451659489	missense variant	-	NC_000018.10:g.75287937G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Lys845Arg	rs1340724137	missense variant	-	NC_000018.10:g.75287941A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Lys845Glu	rs1383912273	missense variant	-	NC_000018.10:g.75287940A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn846Lys	rs374807933	missense variant	-	NC_000018.10:g.75287945C>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asn846Lys	rs374807933	missense variant	-	NC_000018.10:g.75287945C>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asn846Ile	rs1301969564	missense variant	-	NC_000018.10:g.75287944A>T	TOPMed
TSHZ1	Q6ZSZ6	p.Leu847Phe	rs761651466	missense variant	-	NC_000018.10:g.75287946C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu847Val	rs761651466	missense variant	-	NC_000018.10:g.75287946C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly849Ser	rs1326703899	missense variant	-	NC_000018.10:g.75287952G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Gly849Val	rs921949852	missense variant	-	NC_000018.10:g.75287953G>T	TOPMed
TSHZ1	Q6ZSZ6	p.Arg850His	rs150517197	missense variant	-	NC_000018.10:g.75287956G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg850Cys	rs146587557	missense variant	-	NC_000018.10:g.75287955C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu851Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287959T>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Thr852Met	rs765931444	missense variant	-	NC_000018.10:g.75287962C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys854Arg	COSM1325577	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75287968A>G	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Lys854Glu	rs1468536113	missense variant	-	NC_000018.10:g.75287967A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Ser856Phe	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75287974C>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Thr857Met	rs1253316791	missense variant	-	NC_000018.10:g.75287977C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Ser859Pro	rs757610202	missense variant	-	NC_000018.10:g.75287982T>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Val861Ala	rs886528761	missense variant	-	NC_000018.10:g.75287989T>C	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp866Asn	rs781613550	missense variant	-	NC_000018.10:g.75288003G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp866Val	rs1425043288	missense variant	-	NC_000018.10:g.75288004A>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ala867Val	rs1304777494	missense variant	-	NC_000018.10:g.75288007C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Asp868Asn	COSM3821747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288009G>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Gly869Ala	rs1390515868	missense variant	-	NC_000018.10:g.75288013G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ser871Asn	rs780731050	missense variant	-	NC_000018.10:g.75288019G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser871Ile	rs780731050	missense variant	-	NC_000018.10:g.75288019G>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu874Gly	rs1243177066	missense variant	-	NC_000018.10:g.75288028A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Ala875Val	rs774528880	missense variant	-	NC_000018.10:g.75288031C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala875Ser	rs768813825	missense variant	-	NC_000018.10:g.75288030G>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu878Ter	COSM708921	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.75288039G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Glu878Lys	rs529849837	missense variant	-	NC_000018.10:g.75288039G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu879Gln	rs760595058	missense variant	-	NC_000018.10:g.75288043T>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro881Thr	rs976498917	missense variant	-	NC_000018.10:g.75288048C>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro881Leu	rs575329067	missense variant	-	NC_000018.10:g.75288049C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val882Leu	rs78081605	missense variant	-	NC_000018.10:g.75288051G>C	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His883Pro	rs1391473212	missense variant	-	NC_000018.10:g.75288055A>C	TOPMed
TSHZ1	Q6ZSZ6	p.Arg885Ser	rs1352490407	missense variant	-	NC_000018.10:g.75288062G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Arg885Gly	rs765022598	missense variant	-	NC_000018.10:g.75288060A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly887Val	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288067G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Arg888Trp	rs1053380246	missense variant	-	NC_000018.10:g.75288069C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg888Gln	rs368958183	missense variant	-	NC_000018.10:g.75288070G>A	ESP,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser890Pro	rs757619803	missense variant	-	NC_000018.10:g.75288075T>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser890Phe	rs1457096777	missense variant	-	NC_000018.10:g.75288076C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Asn891Ser	rs1362271244	missense variant	-	NC_000018.10:g.75288079A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Trp892Arg	rs767861984	missense variant	-	NC_000018.10:g.75288081T>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asn893His	rs1382679132	missense variant	-	NC_000018.10:g.75288084A>C	gnomAD
TSHZ1	Q6ZSZ6	p.Asn893Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288085A>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Pro894Leu	RCV000401718	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75288088C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Pro894Ala	rs750897447	missense variant	-	NC_000018.10:g.75288087C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Pro894Leu	rs886054117	missense variant	-	NC_000018.10:g.75288088C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Gln895Glu	rs780126465	missense variant	-	NC_000018.10:g.75288090C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gln895Arg	rs1252084475	missense variant	-	NC_000018.10:g.75288091A>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu898Val	rs1242676710	missense variant	-	NC_000018.10:g.75288099C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Leu900Met	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288105C>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Gln901Arg	rs372133914	missense variant	-	NC_000018.10:g.75288109A>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln901Leu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288109A>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ala902Ser	rs1185276590	missense variant	-	NC_000018.10:g.75288111G>T	gnomAD
TSHZ1	Q6ZSZ6	p.Ala902Gly	rs748347751	missense variant	-	NC_000018.10:g.75288112C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Phe904Leu	rs200403332	missense variant	-	NC_000018.10:g.75288119C>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Phe904Leu	rs200403332	missense variant	-	NC_000018.10:g.75288119C>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala905Ser	rs776678187	missense variant	-	NC_000018.10:g.75288120G>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala905Val	rs759183537	missense variant	-	NC_000018.10:g.75288121C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala905Thr	rs776678187	missense variant	-	NC_000018.10:g.75288120G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser906Leu	rs769414033	missense variant	-	NC_000018.10:g.75288124C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser907Arg	rs200567367	missense variant	-	NC_000018.10:g.75288126A>C	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg909Gln	RCV000296939	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75288133G>A	ClinVar
TSHZ1	Q6ZSZ6	p.Arg909Gln	rs150180967	missense variant	-	NC_000018.10:g.75288133G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg909Trp	rs560496526	missense variant	-	NC_000018.10:g.75288132C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu910Lys	rs761001288	missense variant	-	NC_000018.10:g.75288135G>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Thr911Ile	COSM3527661	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288139C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ile917Val	rs766942425	missense variant	-	NC_000018.10:g.75288156A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ile917Leu	rs766942425	missense variant	-	NC_000018.10:g.75288156A>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Met918Thr	rs754333350	missense variant	-	NC_000018.10:g.75288160T>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ser919Leu	rs755066375	missense variant	-	NC_000018.10:g.75288163C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro923Gln	rs759206150	missense variant	-	NC_000018.10:g.75288175C>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro923Leu	rs759206150	missense variant	-	NC_000018.10:g.75288175C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg926Met	COSM195398	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288184G>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Arg926Thr	rs777836494	missense variant	-	NC_000018.10:g.75288184G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Val927Leu	RCV000398588	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75288186G>C	ClinVar
TSHZ1	Q6ZSZ6	p.Val927Leu	rs183334241	missense variant	-	NC_000018.10:g.75288186G>C	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val927Met	rs183334241	missense variant	-	NC_000018.10:g.75288186G>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val927Glu	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288187T>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Phe932Ser	rs1446192388	missense variant	-	NC_000018.10:g.75288202T>C	TOPMed
TSHZ1	Q6ZSZ6	p.Leu935Pro	rs1453741680	missense variant	-	NC_000018.10:g.75288211T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ser936Phe	COSM989941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288214C>T	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Met937Thr	rs768399634	missense variant	-	NC_000018.10:g.75288217T>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Trp943Ter	rs766674797	stop gained	-	NC_000018.10:g.75288235G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asn946Thr	rs1290652189	missense variant	-	NC_000018.10:g.75288244A>C	TOPMed
TSHZ1	Q6ZSZ6	p.Asn946Lys	rs373206564	missense variant	-	NC_000018.10:g.75288245T>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val947Met	rs759997577	missense variant	-	NC_000018.10:g.75288246G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gln950Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288256A>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Arg953Ser	rs752870368	missense variant	-	NC_000018.10:g.75288266G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly956Arg	rs758379041	missense variant	-	NC_000018.10:g.75288273G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly956Glu	rs778122394	missense variant	-	NC_000018.10:g.75288274G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly956Ala	rs778122394	missense variant	-	NC_000018.10:g.75288274G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr957Met	rs1164013464	missense variant	-	NC_000018.10:g.75288277C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Lys958Asn	rs757913311	missense variant	-	NC_000018.10:g.75288281A>C	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Lys961Arg	rs745828252	missense variant	-	NC_000018.10:g.75288289A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asn962Lys	rs199779165	missense variant	-	NC_000018.10:g.75288293C>A	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu963Pro	rs779829961	missense variant	-	NC_000018.10:g.75288295T>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Asp964Gly	rs1302968048	missense variant	-	NC_000018.10:g.75288298A>G	gnomAD
TSHZ1	Q6ZSZ6	p.His967Leu	rs1438947406	missense variant	-	NC_000018.10:g.75288307A>T	gnomAD
TSHZ1	Q6ZSZ6	p.His967Gln	rs1278008136	missense variant	-	NC_000018.10:g.75288308T>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Pro968Ser	rs774010159	missense variant	-	NC_000018.10:g.75288309C>T	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val969Ala	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288313T>C	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Phe970Leu	COSM989942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288317C>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Asn973Ser	rs369406968	missense variant	-	NC_000018.10:g.75288325A>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Asp974Asn	rs1357241452	missense variant	-	NC_000018.10:g.75288327G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala976Val	rs1371279524	missense variant	-	NC_000018.10:g.75288334C>T	TOPMed
TSHZ1	Q6ZSZ6	p.Ala976Thr	rs1221451156	missense variant	-	NC_000018.10:g.75288333G>A	gnomAD
TSHZ1	Q6ZSZ6	p.Ser977Phe	rs966202320	missense variant	-	NC_000018.10:g.75288337C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ile986Val	rs1335376746	missense variant	-	NC_000018.10:g.75288363A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Ser987Thr	COSM3821749	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288367G>C	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ser987Arg	rs1483842767	missense variant	-	NC_000018.10:g.75288366A>C	TOPMed
TSHZ1	Q6ZSZ6	p.Ser987Asn	rs1274672287	missense variant	-	NC_000018.10:g.75288367G>A	TOPMed
TSHZ1	Q6ZSZ6	p.His988Asn	COSM989943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288369C>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Thr991Ile	rs1382649164	missense variant	-	NC_000018.10:g.75288379C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Gly994Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288388G>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Ser996Asn	COSM4073319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.75288394G>A	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Asp999Glu	rs764021872	missense variant	-	NC_000018.10:g.75288404T>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys1002Asn	rs751833545	missense variant	-	NC_000018.10:g.75288413G>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Leu1003Val	rs1163329186	missense variant	-	NC_000018.10:g.75288414C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn1006Ser	rs750288838	missense variant	-	NC_000018.10:g.75288424A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ile1008Thr	rs530549106	missense variant	-	NC_000018.10:g.75288430T>C	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu1010Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288437A>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Gln1011Glu	rs749126529	missense variant	-	NC_000018.10:g.75288438C>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gln1012His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288443G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Asn1013Lys	rs999298518	missense variant	-	NC_000018.10:g.75288446T>A	gnomAD
TSHZ1	Q6ZSZ6	p.Val1014Ala	rs1315654983	missense variant	-	NC_000018.10:g.75288448T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Val1014Gly	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288448T>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Val1014Leu	rs767649903	missense variant	-	NC_000018.10:g.75288447G>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ser1015Leu	rs535727349	missense variant	-	NC_000018.10:g.75288451C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Val1017Ile	rs747822406	missense variant	-	NC_000018.10:g.75288456G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Val1017Gly	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288457T>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Leu1018Arg	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288460T>G	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Thr1022Ala	rs151040654	missense variant	-	NC_000018.10:g.75288471A>G	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gly1024Ser	rs764987740	missense variant	-	NC_000018.10:g.75288477G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Pro1025Ser	RCV000273024	missense variant	Aural atresia, congenital (CAA)	NC_000018.10:g.75288480C>T	ClinVar
TSHZ1	Q6ZSZ6	p.Pro1025Ser	rs141075503	missense variant	-	NC_000018.10:g.75288480C>T	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu1026Met	rs746312087	missense variant	-	NC_000018.10:g.75288483C>A	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Leu1026Arg	rs770040727	missense variant	-	NC_000018.10:g.75288484T>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Gly1027Val	rs776075417	missense variant	-	NC_000018.10:g.75288487G>T	ExAC
TSHZ1	Q6ZSZ6	p.Ala1028ProPheSerTerUnkUnk	COSM1389758	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000018.10:g.75288485G>-	NCI-TCGA Cosmic
TSHZ1	Q6ZSZ6	p.Ala1028Thr	rs1174285293	missense variant	-	NC_000018.10:g.75288489G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Ala1028Val	rs763302485	missense variant	-	NC_000018.10:g.75288490C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu1030Lys	rs150271733	missense variant	-	NC_000018.10:g.75288495G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Glu1030Asp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288497G>T	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Asp1032Gly	rs1166556204	missense variant	-	NC_000018.10:g.75288502A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Gly1034Asp	rs147969772	missense variant	-	NC_000018.10:g.75288508G>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser1035Phe	rs538007160	missense variant	-	NC_000018.10:g.75288511C>T	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Thr1036Ile	rs750602496	missense variant	-	NC_000018.10:g.75288514C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Phe1037Leu	rs141742436	missense variant	-	NC_000018.10:g.75288518C>A	ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Gln1038Arg	rs1428351840	missense variant	-	NC_000018.10:g.75288520A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Asn1043Ser	rs752245001	missense variant	-	NC_000018.10:g.75288535A>G	ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg1044Gln	rs557571956	missense variant	-	NC_000018.10:g.75288538G>A	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Arg1044Trp	rs996365935	missense variant	-	NC_000018.10:g.75288537C>T	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Arg1044Pro	rs557571956	missense variant	-	NC_000018.10:g.75288538G>C	1000Genomes,ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Phe1046Val	rs777461924	missense variant	-	NC_000018.10:g.75288543T>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala1047Gly	rs192671851	missense variant	-	NC_000018.10:g.75288547C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala1047Thr	rs746582942	missense variant	-	NC_000018.10:g.75288546G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Ala1047Val	rs192671851	missense variant	-	NC_000018.10:g.75288547C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ala1051Thr	rs769332406	missense variant	-	NC_000018.10:g.75288558G>A	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Lys1053Arg	rs1173278850	missense variant	-	NC_000018.10:g.75288565A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Leu1056Arg	rs1404262649	missense variant	-	NC_000018.10:g.75288574T>G	gnomAD
TSHZ1	Q6ZSZ6	p.Ser1057Asn	rs1398941751	missense variant	-	NC_000018.10:g.75288577G>A	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His1060Leu	rs1453231397	missense variant	-	NC_000018.10:g.75288586A>T	TOPMed
TSHZ1	Q6ZSZ6	p.Gly1061Ser	rs149490301	missense variant	-	NC_000018.10:g.75288588G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ser1063Pro	rs1280948200	missense variant	-	NC_000018.10:g.75288594T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Pro1064Ser	rs1223586736	missense variant	-	NC_000018.10:g.75288597C>T	gnomAD
TSHZ1	Q6ZSZ6	p.Pro1064Leu	rs773490916	missense variant	-	NC_000018.10:g.75288598C>T	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Glu1065Lys	rs201020301	missense variant	-	NC_000018.10:g.75288600G>A	1000Genomes,ExAC,TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.His1067Arg	rs973931730	missense variant	-	NC_000018.10:g.75288607A>G	TOPMed,gnomAD
TSHZ1	Q6ZSZ6	p.Ile1069Ser	rs1203830781	missense variant	-	NC_000018.10:g.75288613T>G	gnomAD
TSHZ1	Q6ZSZ6	p.Ile1069Thr	rs1203830781	missense variant	-	NC_000018.10:g.75288613T>C	gnomAD
TSHZ1	Q6ZSZ6	p.Ile1069Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.75288613T>A	NCI-TCGA
TSHZ1	Q6ZSZ6	p.Tyr1070Cys	rs766222223	missense variant	-	NC_000018.10:g.75288616A>G	ExAC,gnomAD
TSHZ1	Q6ZSZ6	p.Val1071Met	rs1468137853	missense variant	-	NC_000018.10:g.75288618G>A	TOPMed
TSHZ1	Q6ZSZ6	p.Leu1074Trp	rs1187676710	missense variant	-	NC_000018.10:g.75288628T>G	TOPMed
TSHZ1	Q6ZSZ6	p.Glu1075Gly	rs1461207015	missense variant	-	NC_000018.10:g.75288631A>G	TOPMed
TSHZ1	Q6ZSZ6	p.Gln1077Arg	rs1305037354	missense variant	-	NC_000018.10:g.75288637A>G	gnomAD
TSHZ1	Q6ZSZ6	p.Gln1077Glu	rs1267004864	missense variant	-	NC_000018.10:g.75288636C>G	gnomAD
TSHZ1	Q6ZSZ6	p.Ter1078Gln	rs563155210	stop lost	-	NC_000018.10:g.75288639T>C	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu2Asp	rs755968458	missense variant	-	NC_000009.12:g.5833022C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu2Gln	rs1387222073	missense variant	-	NC_000009.12:g.5833024C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu2Gly	rs1432745654	missense variant	-	NC_000009.12:g.5833023T>C	TOPMed
ERMP1	Q7Z2K6	p.Trp3Cys	rs750298178	missense variant	-	NC_000009.12:g.5833019C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Trp3Ter	rs889264438	stop gained	-	NC_000009.12:g.5833020C>T	gnomAD
ERMP1	Q7Z2K6	p.Trp3Leu	rs889264438	missense variant	-	NC_000009.12:g.5833020C>A	gnomAD
ERMP1	Q7Z2K6	p.Gly4Ser	rs1378009856	missense variant	-	NC_000009.12:g.5833018C>T	gnomAD
ERMP1	Q7Z2K6	p.Gly4Ala	rs1177461893	missense variant	-	NC_000009.12:g.5833017C>G	gnomAD
ERMP1	Q7Z2K6	p.Glu6Asp	rs756748361	missense variant	-	NC_000009.12:g.5833010C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu6Gln	rs781157785	missense variant	-	NC_000009.12:g.5833012C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser7Leu	rs1185893113	missense variant	-	NC_000009.12:g.5833008G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser7Trp	rs1185893113	missense variant	-	NC_000009.12:g.5833008G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala8Gly	rs757934536	missense variant	-	NC_000009.12:g.5833005G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala8Thr	rs751140231	missense variant	-	NC_000009.12:g.5833006C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala8Val	rs757934536	missense variant	-	NC_000009.12:g.5833005G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala9Thr	rs1159293426	missense variant	-	NC_000009.12:g.5833003C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val10Leu	rs1352125261	missense variant	-	NC_000009.12:g.5833000C>G	gnomAD
ERMP1	Q7Z2K6	p.His13Arg	rs1375830180	missense variant	-	NC_000009.12:g.5832990T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His13Gln	rs759981818	missense variant	-	NC_000009.12:g.5832989G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His13Pro	rs1375830180	missense variant	-	NC_000009.12:g.5832990T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His13Tyr	rs1240898321	missense variant	-	NC_000009.12:g.5832991G>A	gnomAD
ERMP1	Q7Z2K6	p.His13Gln	rs759981818	missense variant	-	NC_000009.12:g.5832989G>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg14His	rs1037024464	missense variant	-	NC_000009.12:g.5832987C>T	gnomAD
ERMP1	Q7Z2K6	p.Arg14Cys	rs777252952	missense variant	-	NC_000009.12:g.5832988G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val15Ile	rs1313249324	missense variant	-	NC_000009.12:g.5832985C>T	gnomAD
ERMP1	Q7Z2K6	p.Val15Asp	rs1436576077	missense variant	-	NC_000009.12:g.5832984A>T	gnomAD
ERMP1	Q7Z2K6	p.Gly16Arg	rs1358473891	missense variant	-	NC_000009.12:g.5832982C>T	gnomAD
ERMP1	Q7Z2K6	p.Val17Ala	rs767049203	missense variant	-	NC_000009.12:g.5832978A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu18Asp	rs760830703	missense variant	-	NC_000009.12:g.5832974C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu18Gln	rs1461094893	missense variant	-	NC_000009.12:g.5832976C>G	TOPMed
ERMP1	Q7Z2K6	p.Arg20Gln	rs1161699419	missense variant	-	NC_000009.12:g.5832969C>T	TOPMed
ERMP1	Q7Z2K6	p.Gly22Ter	rs772206301	stop gained	-	NC_000009.12:g.5832964C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly22Ala	rs372868521	missense variant	-	NC_000009.12:g.5832963C>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly22Glu	rs372868521	missense variant	-	NC_000009.12:g.5832963C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala23Glu	rs865822475	missense variant	-	NC_000009.12:g.5832960G>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala23Val	rs865822475	missense variant	-	NC_000009.12:g.5832960G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala24Val	rs774674602	missense variant	-	NC_000009.12:g.5832957G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala25Thr	rs925954419	missense variant	-	NC_000009.12:g.5832955C>T	TOPMed
ERMP1	Q7Z2K6	p.Ala26Pro	rs769454676	missense variant	-	NC_000009.12:g.5832952C>G	ExAC
ERMP1	Q7Z2K6	p.Pro28Thr	rs1263043580	missense variant	-	NC_000009.12:g.5832946G>T	gnomAD
ERMP1	Q7Z2K6	p.Pro28Ser	rs1263043580	missense variant	-	NC_000009.12:g.5832946G>A	gnomAD
ERMP1	Q7Z2K6	p.Glu30Asp	rs745722281	missense variant	-	NC_000009.12:g.5832938C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu30Gly	rs1318856038	missense variant	-	NC_000009.12:g.5832939T>C	gnomAD
ERMP1	Q7Z2K6	p.Glu30Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5832940C>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Glu32Gln	rs1357315526	missense variant	-	NC_000009.12:g.5832934C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala33Val	rs757122204	missense variant	-	NC_000009.12:g.5832930G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg34Gly	rs13283149	missense variant	-	NC_000009.12:g.5832928G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala35Ser	rs1297459400	missense variant	-	NC_000009.12:g.5832925C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala35Thr	rs1297459400	missense variant	-	NC_000009.12:g.5832925C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gln36Glu	rs1487575209	missense variant	-	NC_000009.12:g.5832922G>C	TOPMed
ERMP1	Q7Z2K6	p.Glu37Lys	rs981309008	missense variant	-	NC_000009.12:g.5832919C>T	gnomAD
ERMP1	Q7Z2K6	p.Pro38Ala	rs971219340	missense variant	-	NC_000009.12:g.5832916G>C	gnomAD
ERMP1	Q7Z2K6	p.Pro38Ser	rs971219340	missense variant	-	NC_000009.12:g.5832916G>A	gnomAD
ERMP1	Q7Z2K6	p.Leu39Val	rs1418058343	missense variant	-	NC_000009.12:g.5832913G>C	gnomAD
ERMP1	Q7Z2K6	p.Val40Leu	rs986669443	missense variant	-	NC_000009.12:g.5832910C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly42Glu	rs1187668750	missense variant	-	NC_000009.12:g.5832903C>T	gnomAD
ERMP1	Q7Z2K6	p.Cys43Phe	rs1185601808	missense variant	-	NC_000009.12:g.5832900C>A	TOPMed
ERMP1	Q7Z2K6	p.Gly46Cys	rs1220842866	missense variant	-	NC_000009.12:g.5832892C>A	gnomAD
ERMP1	Q7Z2K6	p.Arg48Gly	rs1469085427	missense variant	-	NC_000009.12:g.5832886T>C	gnomAD
ERMP1	Q7Z2K6	p.Arg48Thr	rs1275228842	missense variant	-	NC_000009.12:g.5832885C>G	gnomAD
ERMP1	Q7Z2K6	p.Thr49Ala	rs1234937879	missense variant	-	NC_000009.12:g.5832883T>C	gnomAD
ERMP1	Q7Z2K6	p.Thr49Met	rs764987253	missense variant	-	NC_000009.12:g.5832882G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr49Lys	rs764987253	missense variant	-	NC_000009.12:g.5832882G>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg50Leu	rs1294554133	missense variant	-	NC_000009.12:g.5832879C>A	gnomAD
ERMP1	Q7Z2K6	p.Gly55Arg	rs1359722006	missense variant	-	NC_000009.12:g.5832865C>T	TOPMed
ERMP1	Q7Z2K6	p.Gly55Val	rs1417733935	missense variant	-	NC_000009.12:g.5832864C>A	TOPMed
ERMP1	Q7Z2K6	p.Gly56Asp	rs1423427821	missense variant	-	NC_000009.12:g.5832861C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly56Cys	rs773878188	missense variant	-	NC_000009.12:g.5832862C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly56Ser	rs773878188	missense variant	-	NC_000009.12:g.5832862C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly56Ala	rs1423427821	missense variant	-	NC_000009.12:g.5832861C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly56Val	rs1423427821	missense variant	-	NC_000009.12:g.5832861C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser57Thr	rs1423611246	missense variant	-	NC_000009.12:g.5832858C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser57Gly	rs1430814466	missense variant	-	NC_000009.12:g.5832859T>C	gnomAD
ERMP1	Q7Z2K6	p.Ser57Arg	rs767463497	missense variant	-	NC_000009.12:g.5832857G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser57Ile	rs1423611246	missense variant	-	NC_000009.12:g.5832858C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly58Arg	rs762003092	missense variant	-	NC_000009.12:g.5832856C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly59Ser	rs1197037189	missense variant	-	NC_000009.12:g.5832853C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly59Asp	rs1004269145	missense variant	-	NC_000009.12:g.5832852C>T	TOPMed
ERMP1	Q7Z2K6	p.Gly59Cys	rs1197037189	missense variant	-	NC_000009.12:g.5832853C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala60Val	rs528252782	missense variant	-	NC_000009.12:g.5832849G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala60Pro	rs774424647	missense variant	-	NC_000009.12:g.5832850C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala60Ser	rs774424647	missense variant	-	NC_000009.12:g.5832850C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala60Thr	rs774424647	missense variant	-	NC_000009.12:g.5832850C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser61Ile	rs1309214048	missense variant	-	NC_000009.12:g.5832846C>A	gnomAD
ERMP1	Q7Z2K6	p.Ser61Arg	rs1299061061	missense variant	-	NC_000009.12:g.5832845G>C	gnomAD
ERMP1	Q7Z2K6	p.Arg62Ser	rs1198801022	missense variant	-	NC_000009.12:g.5832842C>G	TOPMed
ERMP1	Q7Z2K6	p.Gly63Ser	rs1233438350	missense variant	-	NC_000009.12:g.5832841C>T	gnomAD
ERMP1	Q7Z2K6	p.Gly63Ala	rs62638713	missense variant	-	NC_000009.12:g.5832840C>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly63Val	rs62638713	missense variant	-	NC_000009.12:g.5832840C>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly63Asp	rs62638713	missense variant	-	NC_000009.12:g.5832840C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala64Ser	rs902016612	missense variant	-	NC_000009.12:g.5832838C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala64Thr	rs902016612	missense variant	-	NC_000009.12:g.5832838C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala64Val	rs777802278	missense variant	-	NC_000009.12:g.5832837G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly65Glu	rs1299114366	missense variant	-	NC_000009.12:g.5832834C>T	gnomAD
ERMP1	Q7Z2K6	p.Gly67Arg	rs1181390930	missense variant	-	NC_000009.12:g.5832829C>G	TOPMed
ERMP1	Q7Z2K6	p.Leu68Pro	rs1437599106	missense variant	-	NC_000009.12:g.5832825A>G	TOPMed
ERMP1	Q7Z2K6	p.Leu68Val	rs1176022949	missense variant	-	NC_000009.12:g.5832826G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser69Cys	rs747748510	missense variant	-	NC_000009.12:g.5832822G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser69Pro	rs950227442	missense variant	-	NC_000009.12:g.5832823A>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val71Leu	rs1005565745	missense variant	-	NC_000009.12:g.5832817C>A	gnomAD
ERMP1	Q7Z2K6	p.Val71Met	rs1005565745	missense variant	-	NC_000009.12:g.5832817C>T	gnomAD
ERMP1	Q7Z2K6	p.Arg72Cys	rs1177605480	missense variant	-	NC_000009.12:g.5832814G>A	gnomAD
ERMP1	Q7Z2K6	p.Ala73Pro	rs910451071	missense variant	-	NC_000009.12:g.5832811C>G	TOPMed
ERMP1	Q7Z2K6	p.Ala73Ser	rs910451071	missense variant	-	NC_000009.12:g.5832811C>A	TOPMed
ERMP1	Q7Z2K6	p.Ala73Val	rs1330298865	missense variant	-	NC_000009.12:g.5832810G>A	TOPMed
ERMP1	Q7Z2K6	p.Ala74Gly	rs4145822	missense variant	-	NC_000009.12:g.5832807G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala74Val	rs4145822	missense variant	-	NC_000009.12:g.5832807G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu75Met	rs1254005250	missense variant	-	NC_000009.12:g.5832805G>T	gnomAD
ERMP1	Q7Z2K6	p.Leu75Val	rs1254005250	missense variant	-	NC_000009.12:g.5832805G>C	gnomAD
ERMP1	Q7Z2K6	p.Gly76Arg	rs1210152808	missense variant	-	NC_000009.12:g.5832802C>T	gnomAD
ERMP1	Q7Z2K6	p.Ala78Ser	rs1281849099	missense variant	-	NC_000009.12:g.5832796C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala78Val	rs754608712	missense variant	-	NC_000009.12:g.5832795G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr80Cys	rs753557373	missense variant	-	NC_000009.12:g.5832789T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr80Ter	rs1392739572	stop gained	-	NC_000009.12:g.5832788G>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr80Ser	rs753557373	missense variant	-	NC_000009.12:g.5832789T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile82Met	rs559155223	missense variant	-	NC_000009.12:g.5832782G>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala83Thr	rs768129459	missense variant	-	NC_000009.12:g.5832781C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu84Val	rs1156942274	missense variant	-	NC_000009.12:g.5832778G>C	gnomAD
ERMP1	Q7Z2K6	p.Arg85Gln	rs1161620750	missense variant	-	NC_000009.12:g.5832774C>T	gnomAD
ERMP1	Q7Z2K6	p.Arg85Trp	rs1364428511	missense variant	-	NC_000009.12:g.5832775G>A	gnomAD
ERMP1	Q7Z2K6	p.Thr86Met	rs1422273090	missense variant	-	NC_000009.12:g.5832771G>A	gnomAD
ERMP1	Q7Z2K6	p.Leu87Val	rs1253901527	missense variant	-	NC_000009.12:g.5832769G>C	gnomAD
ERMP1	Q7Z2K6	p.Gln89Arg	rs1462052385	missense variant	-	NC_000009.12:g.5832762T>C	TOPMed
ERMP1	Q7Z2K6	p.Leu90Pro	rs1259468215	missense variant	-	NC_000009.12:g.5832759A>G	gnomAD
ERMP1	Q7Z2K6	p.Ser91Ala	rs1397652858	missense variant	-	NC_000009.12:g.5832757A>C	TOPMed
ERMP1	Q7Z2K6	p.Leu92Pro	rs949833495	missense variant	-	NC_000009.12:g.5832753A>G	gnomAD
ERMP1	Q7Z2K6	p.Leu92Gln	rs949833495	missense variant	-	NC_000009.12:g.5832753A>T	gnomAD
ERMP1	Q7Z2K6	p.Gln94Ter	rs775716980	stop gained	-	NC_000009.12:g.5832748G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu95Phe	rs1362513738	missense variant	-	NC_000009.12:g.5832745G>A	gnomAD
ERMP1	Q7Z2K6	p.Val96Leu	rs554983063	missense variant	-	NC_000009.12:g.5832742C>G	1000Genomes,ExAC
ERMP1	Q7Z2K6	p.Val96Ala	rs1240814042	missense variant	-	NC_000009.12:g.5832741A>G	gnomAD
ERMP1	Q7Z2K6	p.Leu97Pro	rs987517490	missense variant	-	NC_000009.12:g.5832738A>G	TOPMed
ERMP1	Q7Z2K6	p.Arg98Leu	rs1293064392	missense variant	-	NC_000009.12:g.5832735C>A	gnomAD
ERMP1	Q7Z2K6	p.Arg98His	rs1293064392	missense variant	-	NC_000009.12:g.5832735C>T	gnomAD
ERMP1	Q7Z2K6	p.Arg98Cys	rs1319545456	missense variant	-	NC_000009.12:g.5832736G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly99Val	rs1296935295	missense variant	-	NC_000009.12:g.5832732C>A	gnomAD
ERMP1	Q7Z2K6	p.Gly99Trp	rs1357937089	missense variant	-	NC_000009.12:g.5832733C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly99Arg	rs1357937089	missense variant	-	NC_000009.12:g.5832733C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly99Glu	rs1296935295	missense variant	-	NC_000009.12:g.5832732C>T	gnomAD
ERMP1	Q7Z2K6	p.Ala100Asp	rs1385837680	missense variant	-	NC_000009.12:g.5832729G>T	gnomAD
ERMP1	Q7Z2K6	p.Ala100Val	rs1385837680	missense variant	-	NC_000009.12:g.5832729G>A	gnomAD
ERMP1	Q7Z2K6	p.Ala100Thr	rs1382138181	missense variant	-	NC_000009.12:g.5832730C>T	gnomAD
ERMP1	Q7Z2K6	p.Ala101Asp	rs1417349539	missense variant	-	NC_000009.12:g.5832726G>T	gnomAD
ERMP1	Q7Z2K6	p.Ala101Pro	rs778430803	missense variant	-	NC_000009.12:g.5832727C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala101Ser	rs778430803	missense variant	-	NC_000009.12:g.5832727C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala101Thr	rs778430803	missense variant	-	NC_000009.12:g.5832727C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His103Tyr	rs569339868	missense variant	-	NC_000009.12:g.5832721G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His103Gln	rs13302671	missense variant	-	NC_000009.12:g.5832719G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His103Arg	rs1488051500	missense variant	-	NC_000009.12:g.5832720T>C	TOPMed
ERMP1	Q7Z2K6	p.Arg104Ser	rs750864682	missense variant	-	NC_000009.12:g.5832718G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg104Cys	rs750864682	missense variant	-	NC_000009.12:g.5832718G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly105Arg	rs538779481	missense variant	-	NC_000009.12:g.5832715C>T	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly105Trp	rs538779481	missense variant	-	NC_000009.12:g.5832715C>A	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe107Val	rs1192268366	missense variant	-	NC_000009.12:g.5832709A>C	TOPMed
ERMP1	Q7Z2K6	p.Phe107Leu	rs1272090139	missense variant	-	NC_000009.12:g.5832707G>C	gnomAD
ERMP1	Q7Z2K6	p.Ala109Glu	rs571350661	missense variant	-	NC_000009.12:g.5832702G>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala109Gly	rs571350661	missense variant	-	NC_000009.12:g.5832702G>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala112Val	rs1412024999	missense variant	-	NC_000009.12:g.5832693G>A	gnomAD
ERMP1	Q7Z2K6	p.Arg113Ser	rs761553950	missense variant	-	NC_000009.12:g.5831028C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp114Tyr	rs1438797989	missense variant	-	NC_000009.12:g.5831027C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp114Asn	rs1438797989	missense variant	-	NC_000009.12:g.5831027C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp114Val	rs774417762	missense variant	-	NC_000009.12:g.5831026T>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr115His	rs749861383	missense variant	-	NC_000009.12:g.5831024A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu116Pro	rs1225611819	missense variant	-	NC_000009.12:g.5831020A>G	TOPMed
ERMP1	Q7Z2K6	p.Glu117Lys	rs762987060	missense variant	-	NC_000009.12:g.5831018C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser121Cys	rs1461612251	missense variant	-	NC_000009.12:g.5831005G>C	TOPMed
ERMP1	Q7Z2K6	p.Ile122Val	rs1281132438	missense variant	-	NC_000009.12:g.5831003T>C	gnomAD
ERMP1	Q7Z2K6	p.Thr126Ser	rs1202863576	missense variant	-	NC_000009.12:g.5830990G>C	TOPMed
ERMP1	Q7Z2K6	p.Glu131Gln	rs1351806649	missense variant	-	NC_000009.12:g.5830976C>G	gnomAD
ERMP1	Q7Z2K6	p.Leu135Val	rs1443163191	missense variant	-	NC_000009.12:g.5830964G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val137Leu	rs776183114	missense variant	-	NC_000009.12:g.5830958C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.His138Pro	rs1173743615	missense variant	-	NC_000009.12:g.5830954T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His138Gln	rs990176768	missense variant	-	NC_000009.12:g.5830953G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His138Arg	rs1173743615	missense variant	-	NC_000009.12:g.5830954T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His138Tyr	rs1181843141	missense variant	-	NC_000009.12:g.5830955G>A	TOPMed
ERMP1	Q7Z2K6	p.Tyr139Cys	rs1405125224	missense variant	-	NC_000009.12:g.5830951T>C	gnomAD
ERMP1	Q7Z2K6	p.Leu140Phe	rs140054744	missense variant	-	NC_000009.12:g.5830949G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu146Val	rs1186172857	missense variant	-	NC_000009.12:g.5830931G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile147Thr	rs1471997068	missense variant	-	NC_000009.12:g.5830927A>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val149Leu	COSM1490051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5830922C>G	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Gln150Glu	rs1485636624	missense variant	-	NC_000009.12:g.5830919G>C	gnomAD
ERMP1	Q7Z2K6	p.Ser151Gly	rs1258767540	missense variant	-	NC_000009.12:g.5830916T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser151Arg	rs147487541	missense variant	-	NC_000009.12:g.5830914G>C	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asn152Asp	rs748669425	missense variant	-	NC_000009.12:g.5830913T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asn152Lys	rs1224612765	missense variant	-	NC_000009.12:g.5830911G>C	gnomAD
ERMP1	Q7Z2K6	p.Asn152Ser	rs1283635950	missense variant	-	NC_000009.12:g.5830912T>C	gnomAD
ERMP1	Q7Z2K6	p.Ser153Gly	rs1406931015	missense variant	-	NC_000009.12:g.5830910T>C	TOPMed
ERMP1	Q7Z2K6	p.Ser153Asn	rs529357728	missense variant	-	NC_000009.12:g.5830909C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser153Arg	rs1281088411	missense variant	-	NC_000009.12:g.5830908G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu154Arg	rs1178591469	missense variant	-	NC_000009.12:g.5830906A>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu154Val	rs377629831	missense variant	-	NC_000009.12:g.5830907G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His155Tyr	rs191439805	missense variant	-	NC_000009.12:g.5830904G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His155Arg	rs757070166	missense variant	-	NC_000009.12:g.5830903T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His155Pro	rs757070166	missense variant	-	NC_000009.12:g.5830903T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys156Glu	rs1416522687	missense variant	-	NC_000009.12:g.5830901T>C	gnomAD
ERMP1	Q7Z2K6	p.Lys156Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5830900T>G	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser158Leu	rs751332099	missense variant	-	NC_000009.12:g.5830894G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val159Ala	rs763992747	missense variant	-	NC_000009.12:g.5830891A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp160Gly	rs762934035	missense variant	-	NC_000009.12:g.5830888T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp160Asn	rs1400935281	missense variant	-	NC_000009.12:g.5830889C>T	gnomAD
ERMP1	Q7Z2K6	p.Asp160Glu	rs1163248177	missense variant	-	NC_000009.12:g.5830887A>C	gnomAD
ERMP1	Q7Z2K6	p.Val161Ala	rs1201047789	missense variant	-	NC_000009.12:g.5830885A>G	TOPMed
ERMP1	Q7Z2K6	p.Gln162Glu	rs1269121386	missense variant	-	NC_000009.12:g.5830883G>C	TOPMed
ERMP1	Q7Z2K6	p.Arg163Gln	rs1174664553	missense variant	-	NC_000009.12:g.5830879C>T	TOPMed
ERMP1	Q7Z2K6	p.Arg163Trp	rs1418986910	missense variant	-	NC_000009.12:g.5830880G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro164Leu	rs759013483	missense variant	-	NC_000009.12:g.5830876G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro164Ser	rs764770709	missense variant	-	NC_000009.12:g.5830877G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly166Val	rs1207814867	missense variant	-	NC_000009.12:g.5830870C>A	gnomAD
ERMP1	Q7Z2K6	p.Ser169Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5830861C>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Ile170Met	rs199943247	missense variant	-	NC_000009.12:g.5830857A>C	TOPMed
ERMP1	Q7Z2K6	p.Asp171Asn	rs141447627	missense variant	-	NC_000009.12:g.5830856C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp171Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5830856C>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Phe172Ser	rs898148275	missense variant	-	NC_000009.12:g.5830852A>G	gnomAD
ERMP1	Q7Z2K6	p.Phe172Ile	rs1271463989	missense variant	-	NC_000009.12:g.5830853A>T	gnomAD
ERMP1	Q7Z2K6	p.Phe172Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5830851G>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Gly174Glu	rs148300043	missense variant	-	NC_000009.12:g.5830846C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly175Ser	rs773511760	missense variant	-	NC_000009.12:g.5830844C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr177Arg	rs772450366	missense variant	-	NC_000009.12:g.5830837G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr179His	rs748615944	missense variant	-	NC_000009.12:g.5830832A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr179Cys	rs779437476	missense variant	-	NC_000009.12:g.5830831T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn182Thr	rs780186073	missense variant	-	NC_000009.12:g.5830822T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn182Ser	rs780186073	missense variant	-	NC_000009.12:g.5830822T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile183Val	rs1460570334	missense variant	-	NC_000009.12:g.5830820T>C	gnomAD
ERMP1	Q7Z2K6	p.Asn185Lys	rs756231116	missense variant	-	NC_000009.12:g.5830812A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val186Ile	rs1250691213	missense variant	-	NC_000009.12:g.5830811C>T	TOPMed
ERMP1	Q7Z2K6	p.Lys189Met	rs777668094	missense variant	-	NC_000009.12:g.5830801T>A	ExAC
ERMP1	Q7Z2K6	p.Leu190Val	rs1305029251	missense variant	-	NC_000009.12:g.5830799G>C	gnomAD
ERMP1	Q7Z2K6	p.Pro192Leu	rs758305961	missense variant	-	NC_000009.12:g.5830792G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg193Ser	rs1189102198	missense variant	-	NC_000009.12:g.5830788T>G	TOPMed
ERMP1	Q7Z2K6	p.Arg193Thr	rs62638714	missense variant	-	NC_000009.12:g.5830789C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp194Gly	rs149335278	missense variant	-	NC_000009.12:g.5830786T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly195Glu	rs187506460	missense variant	-	NC_000009.12:g.5830783C>T	1000Genomes,ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala196Ser	rs765930579	missense variant	-	NC_000009.12:g.5830781C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala196Gly	rs1283954909	missense variant	-	NC_000009.12:g.5830780G>C	gnomAD
ERMP1	Q7Z2K6	p.His198Arg	rs1215052182	missense variant	-	NC_000009.12:g.5830774T>C	gnomAD
ERMP1	Q7Z2K6	p.His198Tyr	rs772884929	missense variant	-	NC_000009.12:g.5830775G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala199Gly	rs1193002265	missense variant	-	NC_000009.12:g.5830771G>C	TOPMed
ERMP1	Q7Z2K6	p.Ala202Thr	rs545806699	missense variant	-	NC_000009.12:g.5830763C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn203His	rs201638481	missense variant	-	NC_000009.12:g.5830760T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Cys204Ser	rs961810084	missense variant	-	NC_000009.12:g.5830757A>T	TOPMed
ERMP1	Q7Z2K6	p.His205Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5830753T>G	NCI-TCGA
ERMP1	Q7Z2K6	p.Phe206Ser	rs1460755263	missense variant	-	NC_000009.12:g.5830750A>G	gnomAD
ERMP1	Q7Z2K6	p.Ser212Ter	rs1337969653	stop gained	-	NC_000009.12:g.5830732G>C	gnomAD
ERMP1	Q7Z2K6	p.Pro213Thr	rs1003724145	missense variant	-	NC_000009.12:g.5830730G>T	TOPMed
ERMP1	Q7Z2K6	p.Ser216Ile	rs574548226	missense variant	-	NC_000009.12:g.5825213C>A	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val220Gly	rs898857061	missense variant	-	NC_000009.12:g.5825201A>C	TOPMed
ERMP1	Q7Z2K6	p.Cys222Phe	rs745999520	missense variant	-	NC_000009.12:g.5825195C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser223Ala	rs776985295	missense variant	-	NC_000009.12:g.5825193A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser223Ter	rs1440470790	stop gained	-	NC_000009.12:g.5825192G>C	TOPMed
ERMP1	Q7Z2K6	p.Met225Thr	rs199615496	missense variant	-	NC_000009.12:g.5825186A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu226Val	rs1346715604	missense variant	-	NC_000009.12:g.5825184G>C	TOPMed
ERMP1	Q7Z2K6	p.Val228Leu	rs1315893742	missense variant	-	NC_000009.12:g.5825178C>G	gnomAD
ERMP1	Q7Z2K6	p.Arg230His	rs778526397	missense variant	-	NC_000009.12:g.5825171C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg230Cys	rs747273080	missense variant	-	NC_000009.12:g.5825172G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val231Ile	rs1312842998	missense variant	-	NC_000009.12:g.5825169C>T	gnomAD
ERMP1	Q7Z2K6	p.Thr234Ala	rs1404508834	missense variant	-	NC_000009.12:g.5825160T>C	gnomAD
ERMP1	Q7Z2K6	p.Ala238Pro	rs1199491121	missense variant	-	NC_000009.12:g.5825148C>G	TOPMed
ERMP1	Q7Z2K6	p.His240Asp	rs982284124	missense variant	-	NC_000009.12:g.5825142G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His240Arg	rs1159605873	missense variant	-	NC_000009.12:g.5825141T>C	gnomAD
ERMP1	Q7Z2K6	p.His240Tyr	rs982284124	missense variant	-	NC_000009.12:g.5825142G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val243Ala	COSM280857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5825132A>G	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Ile244Met	rs144810528	missense variant	-	NC_000009.12:g.5825128T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile244Val	rs948164910	missense variant	-	NC_000009.12:g.5825130T>C	TOPMed
ERMP1	Q7Z2K6	p.Leu246Val	rs1426578376	missense variant	-	NC_000009.12:g.5825124G>C	TOPMed
ERMP1	Q7Z2K6	p.Phe247Leu	rs750003692	missense variant	-	NC_000009.12:g.5825121A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn248Lys	rs989702728	missense variant	-	NC_000009.12:g.5825116A>T	TOPMed
ERMP1	Q7Z2K6	p.Gly249Asp	rs1395361795	missense variant	-	NC_000009.12:g.5825114C>T	TOPMed
ERMP1	Q7Z2K6	p.Gly249Ser	rs767026505	missense variant	-	NC_000009.12:g.5825115C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu252Gly	rs1475492990	missense variant	-	NC_000009.12:g.5825105T>C	gnomAD
ERMP1	Q7Z2K6	p.Val254Ile	rs1257666769	missense variant	-	NC_000009.12:g.5825100C>T	gnomAD
ERMP1	Q7Z2K6	p.Leu255Trp	rs751253546	missense variant	-	NC_000009.12:g.5825096A>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser258Gly	rs1190174091	missense variant	-	NC_000009.12:g.5823998T>C	gnomAD
ERMP1	Q7Z2K6	p.His259Asp	rs372144973	missense variant	-	NC_000009.12:g.5823995G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His259Tyr	rs372144973	missense variant	-	NC_000009.12:g.5823995G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile262Val	rs1290062631	missense variant	-	NC_000009.12:g.5823986T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gln264Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.5823980G>A	NCI-TCGA
ERMP1	Q7Z2K6	p.His265Tyr	rs1214655274	missense variant	-	NC_000009.12:g.5823977G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro266Thr	rs756799204	missense variant	-	NC_000009.12:g.5823974G>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro266Ala	rs756799204	missense variant	-	NC_000009.12:g.5823974G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Trp267Ser	rs570813201	missense variant	-	NC_000009.12:g.5823970C>G	1000Genomes
ERMP1	Q7Z2K6	p.Ser269Ile	rs751147418	missense variant	-	NC_000009.12:g.5823964C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser269Asn	rs751147418	missense variant	-	NC_000009.12:g.5823964C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser269Gly	rs1327165964	missense variant	-	NC_000009.12:g.5823965T>C	gnomAD
ERMP1	Q7Z2K6	p.Arg272Pro	rs141023353	missense variant	-	NC_000009.12:g.5823955C>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg272His	rs141023353	missense variant	-	NC_000009.12:g.5823955C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg272Gly	rs199525036	missense variant	-	NC_000009.12:g.5823956G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg272Cys	rs199525036	missense variant	-	NC_000009.12:g.5823956G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala273Thr	rs753035519	missense variant	-	NC_000009.12:g.5823953C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile275Leu	rs1166133707	missense variant	-	NC_000009.12:g.5823947T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile275Val	rs1166133707	missense variant	-	NC_000009.12:g.5823947T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn276Ile	rs1390320586	missense variant	-	NC_000009.12:g.5823943T>A	gnomAD
ERMP1	Q7Z2K6	p.Leu277Val	rs1161297052	missense variant	-	NC_000009.12:g.5823941G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val282Ala	rs1193847157	missense variant	-	NC_000009.12:g.5823925A>G	gnomAD
ERMP1	Q7Z2K6	p.Val282Ile	rs1251948382	missense variant	-	NC_000009.12:g.5823926C>T	gnomAD
ERMP1	Q7Z2K6	p.Gly284Arg	rs1453737562	missense variant	-	NC_000009.12:g.5823920C>T	gnomAD
ERMP1	Q7Z2K6	p.Gln290Lys	rs760859531	missense variant	-	NC_000009.12:g.5823902G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln290His	rs956581420	missense variant	-	NC_000009.12:g.5823900T>A	TOPMed
ERMP1	Q7Z2K6	p.Thr291Ser	rs773294457	missense variant	-	NC_000009.12:g.5823899T>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly292Arg	rs1276884433	missense variant	-	NC_000009.12:g.5823896C>G	gnomAD
ERMP1	Q7Z2K6	p.Asn295Ser	rs146473341	missense variant	-	NC_000009.12:g.5813026T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Trp297Cys	rs1480559001	missense variant	-	NC_000009.12:g.5813019C>G	TOPMed
ERMP1	Q7Z2K6	p.Trp297Leu	rs778760469	missense variant	-	NC_000009.12:g.5813020C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu298Val	rs1175342070	missense variant	-	NC_000009.12:g.5813018A>C	TOPMed
ERMP1	Q7Z2K6	p.Val299Phe	rs755382310	missense variant	-	NC_000009.12:g.5813015C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln300Pro	rs754322557	missense variant	-	NC_000009.12:g.5813011T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala301Val	rs374951871	missense variant	-	NC_000009.12:g.5813008G>A	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val303Leu	rs1467549481	missense variant	-	NC_000009.12:g.5813003C>G	TOPMed
ERMP1	Q7Z2K6	p.Ser304Ter	rs1292928920	stop gained	-	NC_000009.12:g.5812999G>C	gnomAD
ERMP1	Q7Z2K6	p.Ala305Thr	rs1283877168	missense variant	-	NC_000009.12:g.5812997C>T	gnomAD
ERMP1	Q7Z2K6	p.Ala306Val	rs756586390	missense variant	-	NC_000009.12:g.5812993G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys307Thr	rs1289978365	missense variant	-	NC_000009.12:g.5812990T>G	gnomAD
ERMP1	Q7Z2K6	p.Lys307Glu	rs750924259	missense variant	-	NC_000009.12:g.5812991T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.His308Pro	rs1231388260	missense variant	-	NC_000009.12:g.5812987T>G	gnomAD
ERMP1	Q7Z2K6	p.Ala311Ser	rs767603607	missense variant	-	NC_000009.12:g.5812979C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser312Phe	rs1324139720	missense variant	-	NC_000009.12:g.5812975G>A	gnomAD
ERMP1	Q7Z2K6	p.Val313Leu	rs764363850	missense variant	-	NC_000009.12:g.5812973C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val314Met	rs150323907	missense variant	-	NC_000009.12:g.5812970C>T	ESP
ERMP1	Q7Z2K6	p.Gln316Ter	rs947998523	stop gained	-	NC_000009.12:g.5812964G>A	gnomAD
ERMP1	Q7Z2K6	p.Phe319Val	rs1183701730	missense variant	-	NC_000009.12:g.5812955A>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gln320His	rs140191022	missense variant	-	NC_000009.12:g.5812950C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile324Val	rs1346302449	missense variant	-	NC_000009.12:g.5812940T>C	TOPMed
ERMP1	Q7Z2K6	p.Ser326Leu	rs151153615	missense variant	-	NC_000009.12:g.5812933G>A	ESP,TOPMed
ERMP1	Q7Z2K6	p.Asp327Gly	rs1321107652	missense variant	-	NC_000009.12:g.5812930T>C	TOPMed
ERMP1	Q7Z2K6	p.Arg331Gly	rs773065056	missense variant	-	NC_000009.12:g.5812919G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg331Cys	rs773065056	missense variant	-	NC_000009.12:g.5812919G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg331His	rs771593182	missense variant	-	NC_000009.12:g.5812918C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg331Leu	rs771593182	missense variant	-	NC_000009.12:g.5812918C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg331Ser	rs773065056	missense variant	-	NC_000009.12:g.5812919G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr333Cys	rs747721438	missense variant	-	NC_000009.12:g.5812912T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp335Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5812907C>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Phe336Ser	rs1290559975	missense variant	-	NC_000009.12:g.5812903A>G	gnomAD
ERMP1	Q7Z2K6	p.Asn338Ser	rs142052069	missense variant	-	NC_000009.12:g.5812897T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn338Thr	rs142052069	missense variant	-	NC_000009.12:g.5812897T>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile339Met	rs748964454	missense variant	-	NC_000009.12:g.5812893A>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro340Leu	rs780418996	missense variant	-	NC_000009.12:g.5812891G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile342Val	rs199952799	missense variant	-	NC_000009.12:g.5812215T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile342Thr	rs377105796	missense variant	-	NC_000009.12:g.5812214A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp343Gly	rs747485935	missense variant	-	NC_000009.12:g.5812211T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile347Thr	rs1372772801	missense variant	-	NC_000009.12:g.5812199A>G	TOPMed
ERMP1	Q7Z2K6	p.Glu348Asp	COSM1109418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5812195C>A	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Asn349Ser	rs141049730	missense variant	-	NC_000009.12:g.5812193T>C	ESP
ERMP1	Q7Z2K6	p.Gly350Ter	rs778303333	stop gained	-	NC_000009.12:g.5812191C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr351Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5812187T>C	NCI-TCGA
ERMP1	Q7Z2K6	p.Ile352Thr	rs568490069	missense variant	-	NC_000009.12:g.5812184A>G	1000Genomes
ERMP1	Q7Z2K6	p.His354Pro	rs1285472083	missense variant	-	NC_000009.12:g.5812178T>G	TOPMed
ERMP1	Q7Z2K6	p.His354Asp	rs748246627	missense variant	-	NC_000009.12:g.5812179G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp358His	rs1230776205	missense variant	-	NC_000009.12:g.5812167C>G	gnomAD
ERMP1	Q7Z2K6	p.Ala360Val	rs755097681	missense variant	-	NC_000009.12:g.5812160G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala360Thr	rs1277668315	missense variant	-	NC_000009.12:g.5812161C>T	TOPMed
ERMP1	Q7Z2K6	p.Ile363Val	rs758598311	missense variant	-	NC_000009.12:g.5812152T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr365Ala	rs1159552214	missense variant	-	NC_000009.12:g.5812146T>C	gnomAD
ERMP1	Q7Z2K6	p.Asp366Gly	rs751526437	missense variant	-	NC_000009.12:g.5812142T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp366Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5812143C>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser367Cys	rs147751201	missense variant	-	NC_000009.12:g.5812139G>C	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser367Ala	rs538690277	missense variant	-	NC_000009.12:g.5812140A>C	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln369Glu	rs935231853	missense variant	-	NC_000009.12:g.5812134G>C	TOPMed
ERMP1	Q7Z2K6	p.Gln369Lys	rs935231853	missense variant	-	NC_000009.12:g.5812134G>T	TOPMed
ERMP1	Q7Z2K6	p.Arg370Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5812130C>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Gly372Val	rs1392728978	missense variant	-	NC_000009.12:g.5811323C>A	gnomAD
ERMP1	Q7Z2K6	p.Gly372Arg	rs1465463336	missense variant	-	NC_000009.12:g.5812125C>G	gnomAD
ERMP1	Q7Z2K6	p.Asp373Asn	rs1436354752	missense variant	-	NC_000009.12:g.5811321C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val378Phe	rs1170155121	missense variant	-	NC_000009.12:g.5811306C>A	gnomAD
ERMP1	Q7Z2K6	p.Leu379Val	rs770083260	missense variant	-	NC_000009.12:g.5811303G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys380Glu	rs746110746	missense variant	-	NC_000009.12:g.5811300T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys380Thr	rs777667883	missense variant	-	NC_000009.12:g.5811299T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.His381Arg	rs145625113	missense variant	-	NC_000009.12:g.5811296T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu382Val	rs1249087343	missense variant	-	NC_000009.12:g.5811294G>C	gnomAD
ERMP1	Q7Z2K6	p.Ala383Gly	rs907366984	missense variant	-	NC_000009.12:g.5811290G>C	TOPMed
ERMP1	Q7Z2K6	p.Ser385Cys	rs375663214	missense variant	-	NC_000009.12:g.5811284G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp386Gly	rs1276864317	missense variant	-	NC_000009.12:g.5811281T>C	gnomAD
ERMP1	Q7Z2K6	p.Asp386Glu	rs1350714305	missense variant	-	NC_000009.12:g.5811280A>C	TOPMed
ERMP1	Q7Z2K6	p.Asp386Asn	rs1305226915	missense variant	-	NC_000009.12:g.5811282C>T	TOPMed
ERMP1	Q7Z2K6	p.Met387Ile	COSM1109417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5811277C>T	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Met387Thr	rs1209008069	missense variant	-	NC_000009.12:g.5811278A>G	gnomAD
ERMP1	Q7Z2K6	p.Leu388Pro	rs1436868542	missense variant	-	NC_000009.12:g.5811275A>G	TOPMed
ERMP1	Q7Z2K6	p.Ala389Gly	rs199811536	missense variant	-	NC_000009.12:g.5811272G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala389Thr	rs866325120	missense variant	-	NC_000009.12:g.5811273C>T	-
ERMP1	Q7Z2K6	p.Ala390Gly	rs765891108	missense variant	-	NC_000009.12:g.5811269G>C	ExAC
ERMP1	Q7Z2K6	p.Ala390Thr	rs753281616	missense variant	-	NC_000009.12:g.5811270C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala391Thr	rs755714058	missense variant	-	NC_000009.12:g.5811267C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser392Phe	rs750108536	missense variant	-	NC_000009.12:g.5811263G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser392Ala	rs1286432829	missense variant	-	NC_000009.12:g.5811264A>C	gnomAD
ERMP1	Q7Z2K6	p.Ser392Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5811263G>C	NCI-TCGA
ERMP1	Q7Z2K6	p.Lys393Gln	rs767743378	missense variant	-	NC_000009.12:g.5811261T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys393Thr	rs1309245369	missense variant	-	NC_000009.12:g.5811260T>G	gnomAD
ERMP1	Q7Z2K6	p.Lys393Glu	rs767743378	missense variant	-	NC_000009.12:g.5811261T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys393Arg	rs1309245369	missense variant	-	NC_000009.12:g.5811260T>C	gnomAD
ERMP1	Q7Z2K6	p.Tyr394Cys	rs140094646	missense variant	-	NC_000009.12:g.5811257T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg395Gln	rs774713963	missense variant	-	NC_000009.12:g.5811254C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg395Ter	rs1401003887	stop gained	-	NC_000009.12:g.5811255G>A	gnomAD
ERMP1	Q7Z2K6	p.His396Tyr	rs1479238729	missense variant	-	NC_000009.12:g.5811252G>A	gnomAD
ERMP1	Q7Z2K6	p.Gly397Arg	rs1323645914	missense variant	-	NC_000009.12:g.5811249C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn398His	rs201496581	missense variant	-	NC_000009.12:g.5811246T>G	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met399Thr	rs1182179750	missense variant	-	NC_000009.12:g.5811242A>G	gnomAD
ERMP1	Q7Z2K6	p.Met399Val	rs1225589487	missense variant	-	NC_000009.12:g.5811243T>C	TOPMed
ERMP1	Q7Z2K6	p.Phe401Val	rs763567359	missense variant	-	NC_000009.12:g.5811237A>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe402Ile	rs775659029	missense variant	-	NC_000009.12:g.5811234A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe408Ser	rs1346929169	missense variant	-	NC_000009.12:g.5811215A>G	gnomAD
ERMP1	Q7Z2K6	p.Phe408Cys	rs1346929169	missense variant	-	NC_000009.12:g.5811215A>C	gnomAD
ERMP1	Q7Z2K6	p.Ile410Val	rs776959101	missense variant	-	NC_000009.12:g.5811210T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr412Cys	rs532414900	missense variant	-	NC_000009.12:g.5811203T>C	ExAC
ERMP1	Q7Z2K6	p.Tyr412His	rs1227714279	missense variant	-	NC_000009.12:g.5811204A>G	gnomAD
ERMP1	Q7Z2K6	p.Tyr412Ser	rs532414900	missense variant	-	NC_000009.12:g.5811203T>G	ExAC
ERMP1	Q7Z2K6	p.Pro413Ala	rs1395269132	missense variant	-	NC_000009.12:g.5811201G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro413Leu	rs1054701833	missense variant	-	NC_000009.12:g.5811200G>A	TOPMed
ERMP1	Q7Z2K6	p.Ser414Thr	rs1289715055	missense variant	-	NC_000009.12:g.5811198A>T	gnomAD
ERMP1	Q7Z2K6	p.Ser414Cys	rs573494515	missense variant	-	NC_000009.12:g.5811197G>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg415Ser	rs200294638	missense variant	-	NC_000009.12:g.5811195G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg415Cys	rs200294638	missense variant	-	NC_000009.12:g.5811195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg415His	rs749246662	missense variant	-	NC_000009.12:g.5811194C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile419Phe	rs149390224	missense variant	-	NC_000009.12:g.5811183T>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile419Val	rs149390224	missense variant	-	NC_000009.12:g.5811183T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile420Val	rs1158818953	missense variant	-	NC_000009.12:g.5811180T>C	gnomAD
ERMP1	Q7Z2K6	p.Asn421Asp	rs1458247075	missense variant	-	NC_000009.12:g.5811177T>C	gnomAD
ERMP1	Q7Z2K6	p.Tyr422Ser	rs751893530	missense variant	-	NC_000009.12:g.5811173T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr422Cys	rs751893530	missense variant	-	NC_000009.12:g.5811173T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Met423Ile	rs369837590	missense variant	-	NC_000009.12:g.5811169C>G	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met423Val	rs536948751	missense variant	-	NC_000009.12:g.5811171T>C	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val425Ile	rs765382489	missense variant	-	NC_000009.12:g.5811165C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Met426Ile	rs1285456822	missense variant	-	NC_000009.12:g.5811160C>A	TOPMed
ERMP1	Q7Z2K6	p.Gly427Asp	rs776716376	missense variant	-	NC_000009.12:g.5811158C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val428Gly	rs192189369	missense variant	-	NC_000009.12:g.5811155A>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val428Leu	rs1286322291	missense variant	-	NC_000009.12:g.5811156C>G	gnomAD
ERMP1	Q7Z2K6	p.Tyr431Asn	rs754823307	missense variant	-	NC_000009.12:g.5811147A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr431Ser	rs1284211133	missense variant	-	NC_000009.12:g.5811146T>G	gnomAD
ERMP1	Q7Z2K6	p.Leu432Val	rs139768756	missense variant	-	NC_000009.12:g.5811144G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys434Arg	rs1362515104	missense variant	-	NC_000009.12:g.5811137T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys435Thr	COSM1462634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5811134T>G	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Lys435Gln	rs202014818	missense variant	-	NC_000009.12:g.5811135T>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe436Leu	rs371168276	missense variant	-	NC_000009.12:g.5811132A>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro439Leu	rs749193439	missense variant	-	NC_000009.12:g.5811122G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro439Arg	rs749193439	missense variant	-	NC_000009.12:g.5811122G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys440Asn	rs77475899	missense variant	-	NC_000009.12:g.5811118T>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His441Arg	rs769282050	missense variant	-	NC_000009.12:g.5811116T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys442Ter	rs745308242	stop gained	-	NC_000009.12:g.5811114T>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys442Glu	rs745308242	missense variant	-	NC_000009.12:g.5811114T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr443Ile	rs1163967080	missense variant	-	NC_000009.12:g.5810231G>A	TOPMed
ERMP1	Q7Z2K6	p.Lys448Glu	rs1205433037	missense variant	-	NC_000009.12:g.5810217T>C	gnomAD
ERMP1	Q7Z2K6	p.Lys448Asn	rs1308835098	missense variant	-	NC_000009.12:g.5810215C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys448Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5810215C>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Asp449Val	rs150624756	missense variant	-	NC_000009.12:g.5810213T>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu451Ser	rs376532967	missense variant	-	NC_000009.12:g.5810207A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu454Pro	rs777623107	missense variant	-	NC_000009.12:g.5810198A>G	ExAC
ERMP1	Q7Z2K6	p.Thr457Ser	rs758828525	missense variant	-	NC_000009.12:g.5810189G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu458Ser	rs748459724	missense variant	-	NC_000009.12:g.5810186A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu458Phe	rs1379458412	missense variant	-	NC_000009.12:g.5810185C>G	TOPMed
ERMP1	Q7Z2K6	p.Phe462Leu	rs768950275	missense variant	-	NC_000009.12:g.5810173G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe462Cys	rs1308655957	missense variant	-	NC_000009.12:g.5810174A>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr463Ile	rs755468335	missense variant	-	NC_000009.12:g.5810171G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu465Phe	rs754338131	missense variant	-	NC_000009.12:g.5810166G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr467Ile	rs766451152	missense variant	-	NC_000009.12:g.5810159G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val468Gly	rs1182208588	missense variant	-	NC_000009.12:g.5810156A>C	gnomAD
ERMP1	Q7Z2K6	p.Val468Ile	rs750645912	missense variant	-	NC_000009.12:g.5810157C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile470Asn	rs762033614	missense variant	-	NC_000009.12:g.5810150A>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile470Val	rs767796823	missense variant	-	NC_000009.12:g.5810151T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe474Leu	rs1265316327	missense variant	-	NC_000009.12:g.5810137G>C	gnomAD
ERMP1	Q7Z2K6	p.Leu477Pro	rs1227107615	missense variant	-	NC_000009.12:g.5810129A>G	gnomAD
ERMP1	Q7Z2K6	p.Ile478Met	rs1289105399	missense variant	-	NC_000009.12:g.5810125A>C	gnomAD
ERMP1	Q7Z2K6	p.Ile478Thr	rs765047672	missense variant	-	NC_000009.12:g.5810126A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly479Glu	rs1393251268	missense variant	-	NC_000009.12:g.5810123C>T	gnomAD
ERMP1	Q7Z2K6	p.Gln480Leu	rs776477983	missense variant	-	NC_000009.12:g.5810120T>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln480Ter	rs759485756	stop gained	-	NC_000009.12:g.5810121G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser481Cys	rs913395669	missense variant	-	NC_000009.12:g.5810117G>C	gnomAD
ERMP1	Q7Z2K6	p.Ser483Leu	rs1449023291	missense variant	-	NC_000009.12:g.5810111G>A	gnomAD
ERMP1	Q7Z2K6	p.Ser483MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.5810111_5810112GA>-	NCI-TCGA
ERMP1	Q7Z2K6	p.Tyr485Cys	rs770458720	missense variant	-	NC_000009.12:g.5810105T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn486Lys	rs772855387	missense variant	-	NC_000009.12:g.5810101G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn486Asp	rs141830507	missense variant	-	NC_000009.12:g.5810103T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe488Leu	rs1411090503	missense variant	-	NC_000009.12:g.5810097A>G	gnomAD
ERMP1	Q7Z2K6	p.Tyr489Cys	rs200917902	missense variant	-	NC_000009.12:g.5810093T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr489His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5810094A>G	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser491Cys	rs1253459996	missense variant	-	NC_000009.12:g.5810087G>C	gnomAD
ERMP1	Q7Z2K6	p.Val492Ile	rs1352762953	missense variant	-	NC_000009.12:g.5810085C>T	TOPMed
ERMP1	Q7Z2K6	p.Cys493Ter	rs144889308	stop gained	-	NC_000009.12:g.5810080A>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Cys493Phe	rs559305338	missense variant	-	NC_000009.12:g.5810081C>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu494Val	rs780485865	missense variant	-	NC_000009.12:g.5810079G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr495Cys	rs935689284	missense variant	-	NC_000009.12:g.5810075T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly496Glu	COSM1109415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5810072C>T	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Thr497Ala	rs865803163	missense variant	-	NC_000009.12:g.5810070T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala498Pro	rs1328878845	missense variant	-	NC_000009.12:g.5810067C>G	gnomAD
ERMP1	Q7Z2K6	p.Thr499Ala	rs925608780	missense variant	-	NC_000009.12:g.5810064T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr499Ile	rs528887474	missense variant	-	NC_000009.12:g.5810063G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr499Pro	rs925608780	missense variant	-	NC_000009.12:g.5810064T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala501Asp	COSM1462632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5810057G>T	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Ile503Val	rs767603006	missense variant	-	NC_000009.12:g.5810052T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile503Met	rs1383776232	missense variant	-	NC_000009.12:g.5810050T>C	gnomAD
ERMP1	Q7Z2K6	p.Ile504Met	rs757428065	missense variant	-	NC_000009.12:g.5810047T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile506Met	rs1338492209	missense variant	-	NC_000009.12:g.5810041T>C	gnomAD
ERMP1	Q7Z2K6	p.Ile506Lys	rs142615324	missense variant	-	NC_000009.12:g.5810042A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile506Thr	rs142615324	missense variant	-	NC_000009.12:g.5810042A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His507Asn	rs138074030	missense variant	-	NC_000009.12:g.5810040G>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr508Ser	rs776625042	missense variant	-	NC_000009.12:g.5810036G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr508Ala	rs1387620728	missense variant	-	NC_000009.12:g.5810037T>C	gnomAD
ERMP1	Q7Z2K6	p.Leu509Val	rs745801198	missense variant	-	NC_000009.12:g.5810034G>C	TOPMed
ERMP1	Q7Z2K6	p.Ala510Gly	rs543515732	missense variant	-	NC_000009.12:g.5810030G>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala510Val	rs543515732	missense variant	-	NC_000009.12:g.5810030G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys511Glu	rs1163406845	missense variant	-	NC_000009.12:g.5810028T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg512Ile	rs374389047	missense variant	-	NC_000009.12:g.5810024C>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe513Leu	rs771740637	missense variant	-	NC_000009.12:g.5810022A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr515His	rs761526137	missense variant	-	NC_000009.12:g.5810016A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met516Leu	rs368185505	missense variant	-	NC_000009.12:g.5810013T>A	ESP,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Met516Val	rs368185505	missense variant	-	NC_000009.12:g.5810013T>C	ESP,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala518Val	rs1346858505	missense variant	-	NC_000009.12:g.5805781G>A	gnomAD
ERMP1	Q7Z2K6	p.Gln521His	rs762687385	missense variant	-	NC_000009.12:g.5805771C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly524Arg	rs202074914	missense variant	-	NC_000009.12:g.5805764C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe527Leu	COSM3433175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805753A>C	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Asp529Ter	COSM4613787	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.5805749_5805750insA	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Ser531Leu	rs781707680	missense variant	-	NC_000009.12:g.5805742G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu532Val	rs1249742161	missense variant	-	NC_000009.12:g.5805740G>C	gnomAD
ERMP1	Q7Z2K6	p.Phe538Leu	rs148859023	missense variant	-	NC_000009.12:g.5805722A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe538Leu	rs752996649	missense variant	-	NC_000009.12:g.5805720A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu539Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5805719G>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Val540Ala	COSM1109413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805715A>G	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Val540Phe	COSM456010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805716C>A	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Thr541Ile	rs756022504	missense variant	-	NC_000009.12:g.5805712G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu542Val	rs767633711	missense variant	-	NC_000009.12:g.5805710G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr543Pro	rs1262822160	missense variant	-	NC_000009.12:g.5805707T>G	TOPMed
ERMP1	Q7Z2K6	p.Tyr544Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.5805702G>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Gln545Glu	rs761849108	missense variant	-	NC_000009.12:g.5805701G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln545His	rs1482804626	missense variant	-	NC_000009.12:g.5805699T>G	TOPMed
ERMP1	Q7Z2K6	p.Gly546Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5805697C>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser549Leu	rs150106740	missense variant	-	NC_000009.12:g.5805688G>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser549Pro	rs763688629	missense variant	-	NC_000009.12:g.5805689A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser549Leu	rs150106740	missense variant	-	NC_000009.12:g.5805688G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser549Ala	rs763688629	missense variant	-	NC_000009.12:g.5805689A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala550Val	rs1252549250	missense variant	-	NC_000009.12:g.5805685G>A	TOPMed
ERMP1	Q7Z2K6	p.Phe551Ser	rs141976024	missense variant	-	NC_000009.12:g.5805682A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe551Leu	rs1016741932	missense variant	-	NC_000009.12:g.5805681A>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser553Ile	rs776984067	missense variant	-	NC_000009.12:g.5805676C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala554Thr	rs1159042793	missense variant	-	NC_000009.12:g.5805674C>T	gnomAD
ERMP1	Q7Z2K6	p.Val555Phe	rs1470584641	missense variant	-	NC_000009.12:g.5805671C>A	gnomAD
ERMP1	Q7Z2K6	p.Ala558Val	rs374260134	missense variant	-	NC_000009.12:g.5805661G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe559Tyr	rs773126391	missense variant	-	NC_000009.12:g.5805658A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu561Trp	rs772234943	missense variant	-	NC_000009.12:g.5805652A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr563Ala	rs1227696868	missense variant	-	NC_000009.12:g.5805647T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys564Gln	COSM1109412	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805644T>G	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Leu565Phe	rs748295882	missense variant	-	NC_000009.12:g.5805641G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Cys566Phe	rs745594980	missense variant	-	NC_000009.12:g.5805637C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Cys566Ter	rs1397698309	stop gained	-	NC_000009.12:g.5805636A>T	TOPMed
ERMP1	Q7Z2K6	p.His568Pro	rs1339468650	missense variant	-	NC_000009.12:g.5805631T>G	gnomAD
ERMP1	Q7Z2K6	p.His568Arg	rs1339468650	missense variant	-	NC_000009.12:g.5805631T>C	gnomAD
ERMP1	Q7Z2K6	p.Asp570Tyr	rs971098304	missense variant	-	NC_000009.12:g.5805626C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe571Leu	rs1306733781	missense variant	-	NC_000009.12:g.5805623A>G	TOPMed
ERMP1	Q7Z2K6	p.Lys572Arg	rs781150056	missense variant	-	NC_000009.12:g.5805619T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly575Asp	rs1243821528	missense variant	-	NC_000009.12:g.5805217C>T	gnomAD
ERMP1	Q7Z2K6	p.Gln577Arg	rs777829058	missense variant	-	NC_000009.12:g.5805211T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln577Pro	rs777829058	missense variant	-	NC_000009.12:g.5805211T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly578Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5805208C>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Lys579Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5805206T>C	NCI-TCGA
ERMP1	Q7Z2K6	p.Phe580Cys	rs1036487068	missense variant	-	NC_000009.12:g.5805202A>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe580Leu	rs752193550	missense variant	-	NC_000009.12:g.5805201A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe580Ile	rs758273759	missense variant	-	NC_000009.12:g.5805203A>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe580Tyr	rs1036487068	missense variant	-	NC_000009.12:g.5805202A>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile581Phe	rs1272783946	missense variant	-	NC_000009.12:g.5805200T>A	gnomAD
ERMP1	Q7Z2K6	p.Ala582Gly	rs1215567183	missense variant	-	NC_000009.12:g.5805196G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr584ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.5805191A>-	NCI-TCGA
ERMP1	Q7Z2K6	p.Leu585Phe	rs754583115	missense variant	-	NC_000009.12:g.5805188G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly587Glu	rs1436384349	missense variant	-	NC_000009.12:g.5805181C>T	gnomAD
ERMP1	Q7Z2K6	p.Met588Ile	rs761159172	missense variant	-	NC_000009.12:g.5805177C>T	ExAC
ERMP1	Q7Z2K6	p.Phe589Cys	rs1304980285	missense variant	-	NC_000009.12:g.5805175A>C	gnomAD
ERMP1	Q7Z2K6	p.Ile590Ser	rs750893707	missense variant	-	NC_000009.12:g.5805172A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro591Ser	rs768004905	missense variant	-	NC_000009.12:g.5805170G>A	ExAC
ERMP1	Q7Z2K6	p.Leu593Arg	rs769612809	missense variant	-	NC_000009.12:g.5805163A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala595Val	rs1410378053	missense variant	-	NC_000009.12:g.5805157G>A	gnomAD
ERMP1	Q7Z2K6	p.Leu596Ter	rs763243350	stop gained	-	NC_000009.12:g.5805154A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu596Ser	rs763243350	missense variant	-	NC_000009.12:g.5805154A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu596Phe	rs1269008326	missense variant	-	NC_000009.12:g.5805153C>G	gnomAD
ERMP1	Q7Z2K6	p.Ile599Met	rs1200916544	missense variant	-	NC_000009.12:g.5805144G>C	gnomAD
ERMP1	Q7Z2K6	p.Phe603Leu	rs746751350	missense variant	-	NC_000009.12:g.5805132A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe603Leu	rs376656998	missense variant	-	NC_000009.12:g.5805134A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe603Leu	rs746751350	missense variant	-	NC_000009.12:g.5805132A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met605Leu	rs973454895	missense variant	-	NC_000009.12:g.5805128T>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe606Val	rs1345337837	missense variant	-	NC_000009.12:g.5805125A>C	TOPMed
ERMP1	Q7Z2K6	p.Thr607Pro	rs145665493	missense variant	-	NC_000009.12:g.5805122T>G	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr607Ile	rs748066560	missense variant	-	NC_000009.12:g.5805121G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro608Leu	rs868059008	missense variant	-	NC_000009.12:g.5805118G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro608Ala	rs1285711163	missense variant	-	NC_000009.12:g.5805119G>C	gnomAD
ERMP1	Q7Z2K6	p.Leu610Phe	rs778364562	missense variant	-	NC_000009.12:g.5805113G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu610Val	rs778364562	missense variant	-	NC_000009.12:g.5805113G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly611Arg	rs1444544681	missense variant	-	NC_000009.12:g.5805110C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly611Arg	rs1444544681	missense variant	-	NC_000009.12:g.5805110C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg612Ile	COSM5467719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805106C>A	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Glu616Ala	rs140187945	missense variant	-	NC_000009.12:g.5805094T>G	ESP,ExAC,TOPMed
ERMP1	Q7Z2K6	p.Pro618Ala	rs937598519	missense variant	-	NC_000009.12:g.5805089G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val621Asp	rs1247390562	missense variant	-	NC_000009.12:g.5805079A>T	TOPMed
ERMP1	Q7Z2K6	p.Ala624Thr	rs755729354	missense variant	-	NC_000009.12:g.5805071C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser625Tyr	rs750745938	missense variant	-	NC_000009.12:g.5805067G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu627TrpPheSerTerUnk	COSM1462631	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.5805061A>-	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Leu627Met	rs1177429137	missense variant	-	NC_000009.12:g.5805062A>T	gnomAD
ERMP1	Q7Z2K6	p.Ala628Thr	rs1431456504	missense variant	-	NC_000009.12:g.5805059C>T	TOPMed
ERMP1	Q7Z2K6	p.Gly629Val	COSM1490050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5805055C>A	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Met632Val	rs752157842	missense variant	-	NC_000009.12:g.5805047T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu634Ile	rs1369915258	missense variant	-	NC_000009.12:g.5805041G>T	TOPMed
ERMP1	Q7Z2K6	p.Leu634Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5805041G>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser635Ter	rs763187395	stop gained	-	NC_000009.12:g.5805037G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser635Thr	rs1427234531	missense variant	-	NC_000009.12:g.5805038A>T	TOPMed
ERMP1	Q7Z2K6	p.Ser635Leu	rs763187395	missense variant	-	NC_000009.12:g.5805037G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr637Cys	rs769999046	missense variant	-	NC_000009.12:g.5805031T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr637Ter	rs1227085129	stop gained	-	NC_000009.12:g.5805030A>C	gnomAD
ERMP1	Q7Z2K6	p.Ile642Val	rs1378609052	missense variant	-	NC_000009.12:g.5801319T>C	TOPMed
ERMP1	Q7Z2K6	p.Tyr643Cys	rs1314702950	missense variant	-	NC_000009.12:g.5801315T>C	gnomAD
ERMP1	Q7Z2K6	p.Lys646Met	rs375166716	missense variant	-	NC_000009.12:g.5801306T>A	ESP,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser647Asn	COSM3367732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5801303C>T	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Ser647Arg	rs371939957	missense variant	-	NC_000009.12:g.5801302G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr648Arg	rs1289353824	missense variant	-	NC_000009.12:g.5801300G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys649Arg	rs745518655	missense variant	-	NC_000009.12:g.5801297T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys649Gln	rs769231638	missense variant	-	NC_000009.12:g.5801298T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys649Glu	rs769231638	missense variant	-	NC_000009.12:g.5801298T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys650AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.5801292_5801293TT>-	NCI-TCGA
ERMP1	Q7Z2K6	p.Thr651ProPheSerTerUnk	rs766083890	frameshift	-	NC_000009.12:g.5801292T>-	NCI-TCGA,NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Thr651Asn	rs550177754	missense variant	-	NC_000009.12:g.5801291G>T	1000Genomes,ExAC
ERMP1	Q7Z2K6	p.Thr651AsnPheSerTerUnkUnk	rs753821453	frameshift	-	NC_000009.12:g.5801291_5801292insT	NCI-TCGA
ERMP1	Q7Z2K6	p.Met652Thr	rs756970090	missense variant	-	NC_000009.12:g.5801288A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met652Leu	rs1447444865	missense variant	-	NC_000009.12:g.5801289T>A	TOPMed
ERMP1	Q7Z2K6	p.Thr654Ser	rs147318623	missense variant	-	NC_000009.12:g.5801283T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr656Ile	rs367901085	missense variant	-	NC_000009.12:g.5801276G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu657Ser	rs1428262071	missense variant	-	NC_000009.12:g.5801273A>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Cys659Tyr	rs1263114144	missense variant	-	NC_000009.12:g.5801267C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile661Val	rs753294459	missense variant	-	NC_000009.12:g.5801262T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile661Leu	rs753294459	missense variant	-	NC_000009.12:g.5801262T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu664Arg	COSM1109411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5801252A>C	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Ser668Ile	rs961536341	missense variant	-	NC_000009.12:g.5801240C>A	TOPMed
ERMP1	Q7Z2K6	p.Thr670Ile	rs370310060	missense variant	-	NC_000009.12:g.5801234G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe671Tyr	COSM3996573	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5801231A>T	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Phe671Val	rs766445800	missense variant	-	NC_000009.12:g.5801232A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe672Leu	rs1477166550	missense variant	-	NC_000009.12:g.5801229A>G	TOPMed
ERMP1	Q7Z2K6	p.Pro673HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.5801227A>-	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser675Gly	rs774087864	missense variant	-	NC_000009.12:g.5801220T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser675Arg	rs763909889	missense variant	-	NC_000009.12:g.5801218G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asn677Thr	rs199887119	missense variant	-	NC_000009.12:g.5801213T>G	1000Genomes
ERMP1	Q7Z2K6	p.Asn677Ser	rs199887119	missense variant	-	NC_000009.12:g.5801213T>C	1000Genomes
ERMP1	Q7Z2K6	p.Asn677Asp	rs1343107211	missense variant	-	NC_000009.12:g.5801214T>C	gnomAD
ERMP1	Q7Z2K6	p.Pro678Thr	rs1051566149	missense variant	-	NC_000009.12:g.5801211G>T	TOPMed
ERMP1	Q7Z2K6	p.Pro678Leu	rs148751977	missense variant	-	NC_000009.12:g.5801210G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro683Arg	rs769339810	missense variant	-	NC_000009.12:g.5801195G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val686Ala	rs776214299	missense variant	-	NC_000009.12:g.5801186A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe687Leu	rs770657550	missense variant	-	NC_000009.12:g.5801184A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu688Ile	rs367642040	missense variant	-	NC_000009.12:g.5801181G>T	ESP,TOPMed
ERMP1	Q7Z2K6	p.Gln689Ter	rs746689747	stop gained	-	NC_000009.12:g.5801178G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met691Leu	rs1224048750	missense variant	-	NC_000009.12:g.5799005T>G	gnomAD
ERMP1	Q7Z2K6	p.Met691Thr	rs772562879	missense variant	-	NC_000009.12:g.5799004A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr694Ile	rs1050124214	missense variant	-	NC_000009.12:g.5798995G>A	gnomAD
ERMP1	Q7Z2K6	p.Phe695Leu	rs1237906448	missense variant	-	NC_000009.12:g.5798991G>T	gnomAD
ERMP1	Q7Z2K6	p.His696Arg	rs748397632	missense variant	-	NC_000009.12:g.5798989T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp697Glu	rs768998842	missense variant	-	NC_000009.12:g.5798985G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp697Val	rs1450989019	missense variant	-	NC_000009.12:g.5798986T>A	gnomAD
ERMP1	Q7Z2K6	p.Asp697His	rs779349636	missense variant	-	NC_000009.12:g.5798987C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu698Met	rs530504237	missense variant	-	NC_000009.12:g.5798984A>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu698Trp	rs1471209144	missense variant	-	NC_000009.12:g.5798983A>C	gnomAD
ERMP1	Q7Z2K6	p.Glu699Lys	rs370992190	missense variant	-	NC_000009.12:g.5798981C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu699Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.5798981C>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Asn701ThrAsnThrThrGluLeuValTyrTerArgMet	NCI-TCGA novel	stop gained	-	NC_000009.12:g.5798972_5798973insCATCCTTTAATATACAAGTTCAGTGGTGTTTGT	NCI-TCGA
ERMP1	Q7Z2K6	p.Ala702LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.5798972_5798973insCATCCTTT	NCI-TCGA
ERMP1	Q7Z2K6	p.Val703Leu	rs1365811625	missense variant	-	NC_000009.12:g.5798969C>G	gnomAD
ERMP1	Q7Z2K6	p.Lys704IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.5798929_5798965TAATCAAACCCATTGATCCATATTCCAGAGTCCCGTT>-	NCI-TCGA
ERMP1	Q7Z2K6	p.Arg705Trp	rs746484200	missense variant	-	NC_000009.12:g.5798963G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg705Gly	rs746484200	missense variant	-	NC_000009.12:g.5798963G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg705Gln	rs757511772	missense variant	-	NC_000009.12:g.5798962C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp706Ala	rs765110202	missense variant	-	NC_000009.12:g.5798959T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp706His	rs752383043	missense variant	-	NC_000009.12:g.5798960C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asn712Ser	rs759359238	missense variant	-	NC_000009.12:g.5798941T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly713Glu	rs753862590	missense variant	-	NC_000009.12:g.5798938C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly713Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5798939C>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Thr717Ser	rs144298724	missense variant	-	NC_000009.12:g.5798926G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr717Ile	rs144298724	missense variant	-	NC_000009.12:g.5798926G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile719Met	rs1280994200	missense variant	-	NC_000009.12:g.5798919A>C	gnomAD
ERMP1	Q7Z2K6	p.Ile719Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5798921T>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser720Phe	rs772853391	missense variant	-	NC_000009.12:g.5798917G>A	ExAC
ERMP1	Q7Z2K6	p.Thr723Ser	rs1378096672	missense variant	-	NC_000009.12:g.5798908G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr723Ile	rs1378096672	missense variant	-	NC_000009.12:g.5798908G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro724Leu	rs908005606	missense variant	-	NC_000009.12:g.5798905G>A	TOPMed
ERMP1	Q7Z2K6	p.Pro724Ser	rs774542275	missense variant	-	NC_000009.12:g.5798906G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro724Ala	rs774542275	missense variant	-	NC_000009.12:g.5798906G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His725Tyr	rs1455080367	missense variant	-	NC_000009.12:g.5798903G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile726Thr	rs749739959	missense variant	-	NC_000009.12:g.5798899A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro727Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5798897G>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Glu728Val	rs1432271087	missense variant	-	NC_000009.12:g.5798893T>A	TOPMed
ERMP1	Q7Z2K6	p.Asn730Lys	rs745885889	missense variant	-	NC_000009.12:g.5798886A>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn730Ser	rs138024406	missense variant	-	NC_000009.12:g.5798887T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser732Gly	rs952225751	missense variant	-	NC_000009.12:g.5798882T>C	gnomAD
ERMP1	Q7Z2K6	p.Ser732Arg	rs952225751	missense variant	-	NC_000009.12:g.5798882T>G	gnomAD
ERMP1	Q7Z2K6	p.Ile733Asn	rs1183928912	missense variant	-	NC_000009.12:g.5798878A>T	gnomAD
ERMP1	Q7Z2K6	p.Arg734Pro	rs777428417	missense variant	-	NC_000009.12:g.5798875C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg734Gln	rs777428417	missense variant	-	NC_000009.12:g.5798875C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg734Ter	rs1473639594	stop gained	-	NC_000009.12:g.5798876G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu738Gln	rs1247960695	missense variant	-	NC_000009.12:g.5798864C>G	TOPMed
ERMP1	Q7Z2K6	p.Glu738Asp	rs1447082030	missense variant	-	NC_000009.12:g.5798862C>A	gnomAD
ERMP1	Q7Z2K6	p.Glu739Asp	rs1185532626	missense variant	-	NC_000009.12:g.5798859C>G	TOPMed
ERMP1	Q7Z2K6	p.Glu739Lys	rs1463543992	missense variant	-	NC_000009.12:g.5798861C>T	TOPMed
ERMP1	Q7Z2K6	p.Ala741Val	rs1287467347	missense variant	-	NC_000009.12:g.5798854G>A	gnomAD
ERMP1	Q7Z2K6	p.Leu743Arg	COSM1132473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5798848A>C	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Leu743Val	rs747293708	missense variant	-	NC_000009.12:g.5798849G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly745Ala	rs1248686010	missense variant	-	NC_000009.12:g.5798842C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly745Cys	rs1292008210	missense variant	-	NC_000009.12:g.5798843C>A	gnomAD
ERMP1	Q7Z2K6	p.Phe746Leu	rs1337837253	missense variant	-	NC_000009.12:g.5798840A>G	gnomAD
ERMP1	Q7Z2K6	p.Trp748Ser	rs1270199810	missense variant	-	NC_000009.12:g.5798833C>G	gnomAD
ERMP1	Q7Z2K6	p.His753Tyr	rs778548813	missense variant	-	NC_000009.12:g.5798819G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe754Leu	rs753822433	missense variant	-	NC_000009.12:g.5798814A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys758Arg	rs749034080	missense variant	-	NC_000009.12:g.5797930T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asn759Lys	rs1232699698	missense variant	-	NC_000009.12:g.5797926G>C	gnomAD
ERMP1	Q7Z2K6	p.Trp760Cys	rs146300402	missense variant	-	NC_000009.12:g.5797923C>G	ESP
ERMP1	Q7Z2K6	p.Tyr761Ser	rs1255212645	missense variant	-	NC_000009.12:g.5797921T>G	TOPMed
ERMP1	Q7Z2K6	p.Leu762Ile	rs780019177	missense variant	-	NC_000009.12:g.5797919G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro763Ser	rs756080682	missense variant	-	NC_000009.12:g.5797916G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala764Val	rs750429948	missense variant	-	NC_000009.12:g.5797912G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro765Leu	rs374916253	missense variant	-	NC_000009.12:g.5797909G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu766Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.5797907C>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser768Phe	COSM3657683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5797900G>A	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Arg770Lys	rs145639054	missense variant	-	NC_000009.12:g.5797894C>T	1000Genomes,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn771Ser	rs201555586	missense variant	-	NC_000009.12:g.5797891T>C	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro772Leu	rs775790386	missense variant	-	NC_000009.12:g.5797888G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro773Arg	rs1173873666	missense variant	-	NC_000009.12:g.5797885G>C	TOPMed
ERMP1	Q7Z2K6	p.His774Arg	rs1334617928	missense variant	-	NC_000009.12:g.5797882T>C	gnomAD
ERMP1	Q7Z2K6	p.His774Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5797883G>A	NCI-TCGA
ERMP1	Q7Z2K6	p.Phe775Cys	rs1469179934	missense variant	-	NC_000009.12:g.5797879A>C	gnomAD
ERMP1	Q7Z2K6	p.Phe775Leu	rs1413618366	missense variant	-	NC_000009.12:g.5797878G>C	TOPMed
ERMP1	Q7Z2K6	p.Arg776Gln	rs777251448	missense variant	-	NC_000009.12:g.5797876C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg776Leu	rs777251448	missense variant	-	NC_000009.12:g.5797876C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg776Ter	rs765626934	stop gained	-	NC_000009.12:g.5797877G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile778Lys	rs760741004	missense variant	-	NC_000009.12:g.5797870A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile778Thr	rs760741004	missense variant	-	NC_000009.12:g.5797870A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile778Val	rs1416759628	missense variant	-	NC_000009.12:g.5797871T>C	gnomAD
ERMP1	Q7Z2K6	p.Ser779Cys	rs772288398	missense variant	-	NC_000009.12:g.5797867G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser779Ala	rs547444284	missense variant	-	NC_000009.12:g.5797868A>C	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln782His	rs748414672	missense variant	-	NC_000009.12:g.5797857C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro784Leu	rs1258252882	missense variant	-	NC_000009.12:g.5797852G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro784Thr	rs779965849	missense variant	-	NC_000009.12:g.5797853G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser787Ala	COSM3907564	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5797844A>C	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Ser787Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5797843G>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Ile788Leu	rs142701582	missense variant	-	NC_000009.12:g.5797841T>G	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile788Met	rs745791309	missense variant	-	NC_000009.12:g.5797839T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys789Thr	COSM288484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5797837T>G	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Thr791Ile	rs757152177	missense variant	-	NC_000009.12:g.5797831G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr795Ile	rs751027218	missense variant	-	NC_000009.12:g.5797819G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr795Ser	rs140132784	missense variant	-	NC_000009.12:g.5797820T>A	1000Genomes
ERMP1	Q7Z2K6	p.Gly796Glu	COSM1462625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5787593C>T	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.His799Arg	rs1320816861	missense variant	-	NC_000009.12:g.5787584T>C	gnomAD
ERMP1	Q7Z2K6	p.Phe802Leu	rs762053505	missense variant	-	NC_000009.12:g.5787574G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr803Cys	rs138113241	missense variant	-	NC_000009.12:g.5787572T>C	ESP,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg805Ter	rs774581636	stop gained	-	NC_000009.12:g.5787567G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg805Gln	rs185549934	missense variant	-	NC_000009.12:g.5787566C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg805Pro	rs185549934	missense variant	-	NC_000009.12:g.5787566C>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His807Tyr	rs1333960756	missense variant	-	NC_000009.12:g.5787561G>A	gnomAD
ERMP1	Q7Z2K6	p.His807Pro	rs982099327	missense variant	-	NC_000009.12:g.5787560T>G	TOPMed
ERMP1	Q7Z2K6	p.Lys808Arg	rs763112098	missense variant	-	NC_000009.12:g.5787557T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly809Arg	rs776452424	missense variant	-	NC_000009.12:g.5787555C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly809Glu	rs770678871	missense variant	-	NC_000009.12:g.5787554C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser813Pro	rs1238500768	missense variant	-	NC_000009.12:g.5787543A>G	gnomAD
ERMP1	Q7Z2K6	p.Ser813Cys	rs1262456619	missense variant	-	NC_000009.12:g.5787542G>C	TOPMed
ERMP1	Q7Z2K6	p.Gln814Arg	rs1010970108	missense variant	-	NC_000009.12:g.5787539T>C	TOPMed
ERMP1	Q7Z2K6	p.Trp815Ter	rs747599955	stop gained	-	NC_000009.12:g.5787536C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Trp815Ter	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5787535C>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Asn819Ser	rs778417508	missense variant	-	NC_000009.12:g.5787524T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly820Asp	COSM1109408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5787521C>T	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Thr821Ser	rs963841784	missense variant	-	NC_000009.12:g.5787518G>C	TOPMed
ERMP1	Q7Z2K6	p.Pro822Ser	rs754585284	missense variant	-	NC_000009.12:g.5787516G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val823Leu	rs1032813687	missense variant	-	NC_000009.12:g.5787513C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr824Ile	rs1237802408	missense variant	-	NC_000009.12:g.5787509G>A	gnomAD
ERMP1	Q7Z2K6	p.Thr824Ser	rs748935287	missense variant	-	NC_000009.12:g.5787510T>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys826Asn	rs1311856770	missense variant	-	NC_000009.12:g.5787502T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys826Arg	rs780445945	missense variant	-	NC_000009.12:g.5787503T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly828Arg	rs1450869512	missense variant	-	NC_000009.12:g.5787498C>G	gnomAD
ERMP1	Q7Z2K6	p.Gly828Val	rs1382759171	missense variant	-	NC_000009.12:g.5787497C>A	gnomAD
ERMP1	Q7Z2K6	p.Asp829Glu	rs750938774	missense variant	-	NC_000009.12:g.5787493G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp829His	rs756496609	missense variant	-	NC_000009.12:g.5787495C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp829Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5787495C>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser835Pro	rs768074009	missense variant	-	NC_000009.12:g.5787477A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser835Cys	rs757856558	missense variant	-	NC_000009.12:g.5787476G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser835Phe	rs757856558	missense variant	-	NC_000009.12:g.5787476G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu838Arg	rs1297435649	missense variant	-	NC_000009.12:g.5787467A>C	gnomAD
ERMP1	Q7Z2K6	p.Gln839Leu	rs1442524051	missense variant	-	NC_000009.12:g.5787464T>A	gnomAD
ERMP1	Q7Z2K6	p.Ala840Val	rs1470334978	missense variant	-	NC_000009.12:g.5787461G>A	TOPMed
ERMP1	Q7Z2K6	p.Ala840Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5787462C>G	NCI-TCGA
ERMP1	Q7Z2K6	p.Ser841Cys	COSM4852419	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5787458G>C	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Ala842Val	rs763208849	missense variant	-	NC_000009.12:g.5787455G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala842Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5787456C>T	NCI-TCGA
ERMP1	Q7Z2K6	p.Trp846Cys	rs944363084	missense variant	-	NC_000009.12:g.5787442C>A	TOPMed
ERMP1	Q7Z2K6	p.Trp846Ter	rs202211189	stop gained	-	NC_000009.12:g.5787443C>T	gnomAD
ERMP1	Q7Z2K6	p.TrpIleGlu846TrpIleGlyTerUnk	rs780092149	stop gained	-	NC_000009.12:g.5787443_5787444insTATCC	ExAC
ERMP1	Q7Z2K6	p.Ile847Met	rs148237651	missense variant	-	NC_000009.12:g.5787439T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile847Leu	rs775630065	missense variant	-	NC_000009.12:g.5787441T>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile847Thr	rs781367038	missense variant	-	NC_000009.12:g.5787440A>G	TOPMed
ERMP1	Q7Z2K6	p.Glu848Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.5787438C>G	NCI-TCGA
ERMP1	Q7Z2K6	p.Val851Ala	rs1169863450	missense variant	-	NC_000009.12:g.5787307A>G	gnomAD
ERMP1	Q7Z2K6	p.Ser852Ala	rs768209570	missense variant	-	NC_000009.12:g.5787305A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu853Asp	rs762306191	missense variant	-	NC_000009.12:g.5787300T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His855Tyr	rs143084337	missense variant	-	NC_000009.12:g.5787296G>A	ESP,ExAC
ERMP1	Q7Z2K6	p.Gly858Arg	rs769285252	missense variant	-	NC_000009.12:g.5787287C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr861Asn	rs1246894788	missense variant	-	NC_000009.12:g.5787277G>T	gnomAD
ERMP1	Q7Z2K6	p.Val862Leu	rs551188786	missense variant	-	NC_000009.12:g.5787275C>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val862Met	rs551188786	missense variant	-	NC_000009.12:g.5787275C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala863Gly	rs778072786	missense variant	-	NC_000009.12:g.5787271G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala863Thr	rs1258054624	missense variant	-	NC_000009.12:g.5787272C>T	gnomAD
ERMP1	Q7Z2K6	p.Ile864Thr	rs758955887	missense variant	-	NC_000009.12:g.5787268A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala866Val	rs919353141	missense variant	-	NC_000009.12:g.5787262G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr868Cys	rs371806673	missense variant	-	NC_000009.12:g.5787256T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr868Phe	rs371806673	missense variant	-	NC_000009.12:g.5787256T>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr868Ser	rs371806673	missense variant	-	NC_000009.12:g.5787256T>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser870Pro	rs1438424023	missense variant	-	NC_000009.12:g.5787251A>G	gnomAD
ERMP1	Q7Z2K6	p.Ser870Cys	rs369191414	missense variant	-	NC_000009.12:g.5787250G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly871Glu	rs761665438	missense variant	-	NC_000009.12:g.5787247C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly871Arg	rs1271715392	missense variant	-	NC_000009.12:g.5787248C>G	TOPMed
ERMP1	Q7Z2K6	p.Gly871Val	rs761665438	missense variant	-	NC_000009.12:g.5787247C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp873Asn	rs200810811	missense variant	-	NC_000009.12:g.5787242C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys874Asn	rs763882864	missense variant	-	NC_000009.12:g.5787237C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys874Glu	rs1173683019	missense variant	-	NC_000009.12:g.5787239T>C	gnomAD
ERMP1	Q7Z2K6	p.Arg875Thr	rs1280887382	missense variant	-	NC_000009.12:g.5787235C>G	gnomAD
ERMP1	Q7Z2K6	p.Ser876Cys	rs368422058	missense variant	-	NC_000009.12:g.5787232G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser876Phe	rs368422058	missense variant	-	NC_000009.12:g.5787232G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro877His	rs1468927854	missense variant	-	NC_000009.12:g.5787229G>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gln878Glu	COSM3848622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.5787227G>C	NCI-TCGA Cosmic
ERMP1	Q7Z2K6	p.Gln878Pro	rs774826469	missense variant	-	NC_000009.12:g.5787226T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln878Ter	rs1461321776	stop gained	-	NC_000009.12:g.5787227G>A	TOPMed
ERMP1	Q7Z2K6	p.Asp880Gly	rs1261783479	missense variant	-	NC_000009.12:g.5787220T>C	gnomAD
ERMP1	Q7Z2K6	p.Asp880Asn	rs759247426	missense variant	-	NC_000009.12:g.5787221C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp880His	rs759247426	missense variant	-	NC_000009.12:g.5787221C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala881Val	rs776490244	missense variant	-	NC_000009.12:g.5787217G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu882Val	rs770710463	missense variant	-	NC_000009.12:g.5787215G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys885Glu	rs1280999948	missense variant	-	NC_000009.12:g.5787206T>C	gnomAD
ERMP1	Q7Z2K6	p.Pro887Gln	rs1035894014	missense variant	-	NC_000009.12:g.5787199G>T	TOPMed
ERMP1	Q7Z2K6	p.Asp888Ter	NCI-TCGA novel	frameshift	-	NC_000009.12:g.5787197_5787198insA	NCI-TCGA
ERMP1	Q7Z2K6	p.Thr890Ile	rs778220532	missense variant	-	NC_000009.12:g.5787190G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe891Leu	rs772417997	missense variant	-	NC_000009.12:g.5787188A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro892Ser	rs748729945	missense variant	-	NC_000009.12:g.5787185G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser893Pro	rs755109522	missense variant	-	NC_000009.12:g.5787182A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser893Cys	rs146929158	missense variant	-	NC_000009.12:g.5787181G>C	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr898Ala	rs148691186	missense variant	-	NC_000009.12:g.5787167T>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr898Ile	rs758241482	missense variant	-	NC_000009.12:g.5787166G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr898Ser	rs758241482	missense variant	-	NC_000009.12:g.5787166G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp900Asn	rs759046818	missense variant	-	NC_000009.12:g.5787161C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu901Ile	rs1331977798	missense variant	-	NC_000009.12:g.5787158G>T	gnomAD
ERMP1	Q7Z2K6	p.Phe902Ser	rs776293176	missense variant	-	NC_000009.12:g.5787154A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val903Ala	rs773417186	missense variant	-	NC_000009.12:g.5787151A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val903Leu	rs200756546	missense variant	-	NC_000009.12:g.5787152C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val903Ile	rs200756546	missense variant	-	NC_000009.12:g.5787152C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ter905Lys	rs369820037	stop lost	-	NC_000009.12:g.5787146A>T	ESP,TOPMed
ERMP1	Q7Z2K6	p.Glu2Gly	rs1432745654	missense variant	-	NC_000009.12:g.5833023T>C	TOPMed
ERMP1	Q7Z2K6	p.Glu2Gln	rs1387222073	missense variant	-	NC_000009.12:g.5833024C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu2Asp	rs755968458	missense variant	-	NC_000009.12:g.5833022C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Trp3Ter	rs889264438	stop gained	-	NC_000009.12:g.5833020C>T	gnomAD
ERMP1	Q7Z2K6	p.Trp3Leu	rs889264438	missense variant	-	NC_000009.12:g.5833020C>A	gnomAD
ERMP1	Q7Z2K6	p.Trp3Cys	rs750298178	missense variant	-	NC_000009.12:g.5833019C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly4Ser	rs1378009856	missense variant	-	NC_000009.12:g.5833018C>T	gnomAD
ERMP1	Q7Z2K6	p.Gly4Ala	rs1177461893	missense variant	-	NC_000009.12:g.5833017C>G	gnomAD
ERMP1	Q7Z2K6	p.Glu6Gln	rs781157785	missense variant	-	NC_000009.12:g.5833012C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu6Asp	rs756748361	missense variant	-	NC_000009.12:g.5833010C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser7Trp	rs1185893113	missense variant	-	NC_000009.12:g.5833008G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser7Leu	rs1185893113	missense variant	-	NC_000009.12:g.5833008G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala8Gly	rs757934536	missense variant	-	NC_000009.12:g.5833005G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala8Thr	rs751140231	missense variant	-	NC_000009.12:g.5833006C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala8Val	rs757934536	missense variant	-	NC_000009.12:g.5833005G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala9Thr	rs1159293426	missense variant	-	NC_000009.12:g.5833003C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val10Leu	rs1352125261	missense variant	-	NC_000009.12:g.5833000C>G	gnomAD
ERMP1	Q7Z2K6	p.His13Arg	rs1375830180	missense variant	-	NC_000009.12:g.5832990T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His13Gln	rs759981818	missense variant	-	NC_000009.12:g.5832989G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His13Tyr	rs1240898321	missense variant	-	NC_000009.12:g.5832991G>A	gnomAD
ERMP1	Q7Z2K6	p.His13Pro	rs1375830180	missense variant	-	NC_000009.12:g.5832990T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His13Gln	rs759981818	missense variant	-	NC_000009.12:g.5832989G>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg14Cys	rs777252952	missense variant	-	NC_000009.12:g.5832988G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg14His	rs1037024464	missense variant	-	NC_000009.12:g.5832987C>T	gnomAD
ERMP1	Q7Z2K6	p.Val15Ile	rs1313249324	missense variant	-	NC_000009.12:g.5832985C>T	gnomAD
ERMP1	Q7Z2K6	p.Val15Asp	rs1436576077	missense variant	-	NC_000009.12:g.5832984A>T	gnomAD
ERMP1	Q7Z2K6	p.Gly16Arg	rs1358473891	missense variant	-	NC_000009.12:g.5832982C>T	gnomAD
ERMP1	Q7Z2K6	p.Val17Ala	rs767049203	missense variant	-	NC_000009.12:g.5832978A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu18Asp	rs760830703	missense variant	-	NC_000009.12:g.5832974C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu18Gln	rs1461094893	missense variant	-	NC_000009.12:g.5832976C>G	TOPMed
ERMP1	Q7Z2K6	p.Arg20Gln	rs1161699419	missense variant	-	NC_000009.12:g.5832969C>T	TOPMed
ERMP1	Q7Z2K6	p.Gly22Ter	rs772206301	stop gained	-	NC_000009.12:g.5832964C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly22Ala	rs372868521	missense variant	-	NC_000009.12:g.5832963C>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly22Glu	rs372868521	missense variant	-	NC_000009.12:g.5832963C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala23Glu	rs865822475	missense variant	-	NC_000009.12:g.5832960G>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala23Val	rs865822475	missense variant	-	NC_000009.12:g.5832960G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala24Val	rs774674602	missense variant	-	NC_000009.12:g.5832957G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala25Thr	rs925954419	missense variant	-	NC_000009.12:g.5832955C>T	TOPMed
ERMP1	Q7Z2K6	p.Ala26Pro	rs769454676	missense variant	-	NC_000009.12:g.5832952C>G	ExAC
ERMP1	Q7Z2K6	p.Pro28Ser	rs1263043580	missense variant	-	NC_000009.12:g.5832946G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro28Thr	rs1263043580	missense variant	-	NC_000009.12:g.5832946G>T	gnomAD
ERMP1	Q7Z2K6	p.Glu30Gly	rs1318856038	missense variant	-	NC_000009.12:g.5832939T>C	gnomAD
ERMP1	Q7Z2K6	p.Glu30Asp	rs745722281	missense variant	-	NC_000009.12:g.5832938C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu32Gln	rs1357315526	missense variant	-	NC_000009.12:g.5832934C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala33Val	rs757122204	missense variant	-	NC_000009.12:g.5832930G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg34Gly	rs13283149	missense variant	-	NC_000009.12:g.5832928G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala35Thr	rs1297459400	missense variant	-	NC_000009.12:g.5832925C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala35Ser	rs1297459400	missense variant	-	NC_000009.12:g.5832925C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gln36Glu	rs1487575209	missense variant	-	NC_000009.12:g.5832922G>C	TOPMed
ERMP1	Q7Z2K6	p.Glu37Lys	rs981309008	missense variant	-	NC_000009.12:g.5832919C>T	gnomAD
ERMP1	Q7Z2K6	p.Pro38Ser	rs971219340	missense variant	-	NC_000009.12:g.5832916G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro38Ala	rs971219340	missense variant	-	NC_000009.12:g.5832916G>C	gnomAD
ERMP1	Q7Z2K6	p.Leu39Val	rs1418058343	missense variant	-	NC_000009.12:g.5832913G>C	gnomAD
ERMP1	Q7Z2K6	p.Val40Leu	rs986669443	missense variant	-	NC_000009.12:g.5832910C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly42Glu	rs1187668750	missense variant	-	NC_000009.12:g.5832903C>T	gnomAD
ERMP1	Q7Z2K6	p.Cys43Phe	rs1185601808	missense variant	-	NC_000009.12:g.5832900C>A	TOPMed
ERMP1	Q7Z2K6	p.Gly46Cys	rs1220842866	missense variant	-	NC_000009.12:g.5832892C>A	gnomAD
ERMP1	Q7Z2K6	p.Arg48Gly	rs1469085427	missense variant	-	NC_000009.12:g.5832886T>C	gnomAD
ERMP1	Q7Z2K6	p.Arg48Thr	rs1275228842	missense variant	-	NC_000009.12:g.5832885C>G	gnomAD
ERMP1	Q7Z2K6	p.Thr49Met	rs764987253	missense variant	-	NC_000009.12:g.5832882G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr49Ala	rs1234937879	missense variant	-	NC_000009.12:g.5832883T>C	gnomAD
ERMP1	Q7Z2K6	p.Thr49Lys	rs764987253	missense variant	-	NC_000009.12:g.5832882G>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg50Leu	rs1294554133	missense variant	-	NC_000009.12:g.5832879C>A	gnomAD
ERMP1	Q7Z2K6	p.Gly55Arg	rs1359722006	missense variant	-	NC_000009.12:g.5832865C>T	TOPMed
ERMP1	Q7Z2K6	p.Gly55Val	rs1417733935	missense variant	-	NC_000009.12:g.5832864C>A	TOPMed
ERMP1	Q7Z2K6	p.Gly56Cys	rs773878188	missense variant	-	NC_000009.12:g.5832862C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly56Asp	rs1423427821	missense variant	-	NC_000009.12:g.5832861C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly56Ser	rs773878188	missense variant	-	NC_000009.12:g.5832862C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly56Ala	rs1423427821	missense variant	-	NC_000009.12:g.5832861C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly56Val	rs1423427821	missense variant	-	NC_000009.12:g.5832861C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser57Thr	rs1423611246	missense variant	-	NC_000009.12:g.5832858C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser57Gly	rs1430814466	missense variant	-	NC_000009.12:g.5832859T>C	gnomAD
ERMP1	Q7Z2K6	p.Ser57Arg	rs767463497	missense variant	-	NC_000009.12:g.5832857G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser57Ile	rs1423611246	missense variant	-	NC_000009.12:g.5832858C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly58Arg	rs762003092	missense variant	-	NC_000009.12:g.5832856C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly59Asp	rs1004269145	missense variant	-	NC_000009.12:g.5832852C>T	TOPMed
ERMP1	Q7Z2K6	p.Gly59Ser	rs1197037189	missense variant	-	NC_000009.12:g.5832853C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly59Cys	rs1197037189	missense variant	-	NC_000009.12:g.5832853C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala60Ser	rs774424647	missense variant	-	NC_000009.12:g.5832850C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala60Pro	rs774424647	missense variant	-	NC_000009.12:g.5832850C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala60Thr	rs774424647	missense variant	-	NC_000009.12:g.5832850C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala60Val	rs528252782	missense variant	-	NC_000009.12:g.5832849G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser61Arg	rs1299061061	missense variant	-	NC_000009.12:g.5832845G>C	gnomAD
ERMP1	Q7Z2K6	p.Ser61Ile	rs1309214048	missense variant	-	NC_000009.12:g.5832846C>A	gnomAD
ERMP1	Q7Z2K6	p.Arg62Ser	rs1198801022	missense variant	-	NC_000009.12:g.5832842C>G	TOPMed
ERMP1	Q7Z2K6	p.Gly63Val	rs62638713	missense variant	-	NC_000009.12:g.5832840C>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly63Ser	rs1233438350	missense variant	-	NC_000009.12:g.5832841C>T	gnomAD
ERMP1	Q7Z2K6	p.Gly63Ala	rs62638713	missense variant	-	NC_000009.12:g.5832840C>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly63Asp	rs62638713	missense variant	-	NC_000009.12:g.5832840C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala64Thr	rs902016612	missense variant	-	NC_000009.12:g.5832838C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala64Ser	rs902016612	missense variant	-	NC_000009.12:g.5832838C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala64Val	rs777802278	missense variant	-	NC_000009.12:g.5832837G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly65Glu	rs1299114366	missense variant	-	NC_000009.12:g.5832834C>T	gnomAD
ERMP1	Q7Z2K6	p.Gly67Arg	rs1181390930	missense variant	-	NC_000009.12:g.5832829C>G	TOPMed
ERMP1	Q7Z2K6	p.Leu68Pro	rs1437599106	missense variant	-	NC_000009.12:g.5832825A>G	TOPMed
ERMP1	Q7Z2K6	p.Leu68Val	rs1176022949	missense variant	-	NC_000009.12:g.5832826G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser69Pro	rs950227442	missense variant	-	NC_000009.12:g.5832823A>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser69Cys	rs747748510	missense variant	-	NC_000009.12:g.5832822G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val71Leu	rs1005565745	missense variant	-	NC_000009.12:g.5832817C>A	gnomAD
ERMP1	Q7Z2K6	p.Val71Met	rs1005565745	missense variant	-	NC_000009.12:g.5832817C>T	gnomAD
ERMP1	Q7Z2K6	p.Arg72Cys	rs1177605480	missense variant	-	NC_000009.12:g.5832814G>A	gnomAD
ERMP1	Q7Z2K6	p.Ala73Ser	rs910451071	missense variant	-	NC_000009.12:g.5832811C>A	TOPMed
ERMP1	Q7Z2K6	p.Ala73Pro	rs910451071	missense variant	-	NC_000009.12:g.5832811C>G	TOPMed
ERMP1	Q7Z2K6	p.Ala73Val	rs1330298865	missense variant	-	NC_000009.12:g.5832810G>A	TOPMed
ERMP1	Q7Z2K6	p.Ala74Val	rs4145822	missense variant	-	NC_000009.12:g.5832807G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala74Gly	rs4145822	missense variant	-	NC_000009.12:g.5832807G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu75Met	rs1254005250	missense variant	-	NC_000009.12:g.5832805G>T	gnomAD
ERMP1	Q7Z2K6	p.Leu75Val	rs1254005250	missense variant	-	NC_000009.12:g.5832805G>C	gnomAD
ERMP1	Q7Z2K6	p.Gly76Arg	rs1210152808	missense variant	-	NC_000009.12:g.5832802C>T	gnomAD
ERMP1	Q7Z2K6	p.Ala78Ser	rs1281849099	missense variant	-	NC_000009.12:g.5832796C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala78Val	rs754608712	missense variant	-	NC_000009.12:g.5832795G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr80Cys	rs753557373	missense variant	-	NC_000009.12:g.5832789T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr80Ter	rs1392739572	stop gained	-	NC_000009.12:g.5832788G>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr80Ser	rs753557373	missense variant	-	NC_000009.12:g.5832789T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile82Met	rs559155223	missense variant	-	NC_000009.12:g.5832782G>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala83Thr	rs768129459	missense variant	-	NC_000009.12:g.5832781C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu84Val	rs1156942274	missense variant	-	NC_000009.12:g.5832778G>C	gnomAD
ERMP1	Q7Z2K6	p.Arg85Trp	rs1364428511	missense variant	-	NC_000009.12:g.5832775G>A	gnomAD
ERMP1	Q7Z2K6	p.Arg85Gln	rs1161620750	missense variant	-	NC_000009.12:g.5832774C>T	gnomAD
ERMP1	Q7Z2K6	p.Thr86Met	rs1422273090	missense variant	-	NC_000009.12:g.5832771G>A	gnomAD
ERMP1	Q7Z2K6	p.Leu87Val	rs1253901527	missense variant	-	NC_000009.12:g.5832769G>C	gnomAD
ERMP1	Q7Z2K6	p.Gln89Arg	rs1462052385	missense variant	-	NC_000009.12:g.5832762T>C	TOPMed
ERMP1	Q7Z2K6	p.Leu90Pro	rs1259468215	missense variant	-	NC_000009.12:g.5832759A>G	gnomAD
ERMP1	Q7Z2K6	p.Ser91Ala	rs1397652858	missense variant	-	NC_000009.12:g.5832757A>C	TOPMed
ERMP1	Q7Z2K6	p.Leu92Pro	rs949833495	missense variant	-	NC_000009.12:g.5832753A>G	gnomAD
ERMP1	Q7Z2K6	p.Leu92Gln	rs949833495	missense variant	-	NC_000009.12:g.5832753A>T	gnomAD
ERMP1	Q7Z2K6	p.Gln94Ter	rs775716980	stop gained	-	NC_000009.12:g.5832748G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu95Phe	rs1362513738	missense variant	-	NC_000009.12:g.5832745G>A	gnomAD
ERMP1	Q7Z2K6	p.Val96Leu	rs554983063	missense variant	-	NC_000009.12:g.5832742C>G	1000Genomes,ExAC
ERMP1	Q7Z2K6	p.Val96Ala	rs1240814042	missense variant	-	NC_000009.12:g.5832741A>G	gnomAD
ERMP1	Q7Z2K6	p.Leu97Pro	rs987517490	missense variant	-	NC_000009.12:g.5832738A>G	TOPMed
ERMP1	Q7Z2K6	p.Arg98Leu	rs1293064392	missense variant	-	NC_000009.12:g.5832735C>A	gnomAD
ERMP1	Q7Z2K6	p.Arg98His	rs1293064392	missense variant	-	NC_000009.12:g.5832735C>T	gnomAD
ERMP1	Q7Z2K6	p.Arg98Cys	rs1319545456	missense variant	-	NC_000009.12:g.5832736G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly99Trp	rs1357937089	missense variant	-	NC_000009.12:g.5832733C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly99Glu	rs1296935295	missense variant	-	NC_000009.12:g.5832732C>T	gnomAD
ERMP1	Q7Z2K6	p.Gly99Arg	rs1357937089	missense variant	-	NC_000009.12:g.5832733C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly99Val	rs1296935295	missense variant	-	NC_000009.12:g.5832732C>A	gnomAD
ERMP1	Q7Z2K6	p.Ala100Thr	rs1382138181	missense variant	-	NC_000009.12:g.5832730C>T	gnomAD
ERMP1	Q7Z2K6	p.Ala100Asp	rs1385837680	missense variant	-	NC_000009.12:g.5832729G>T	gnomAD
ERMP1	Q7Z2K6	p.Ala100Val	rs1385837680	missense variant	-	NC_000009.12:g.5832729G>A	gnomAD
ERMP1	Q7Z2K6	p.Ala101Thr	rs778430803	missense variant	-	NC_000009.12:g.5832727C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala101Asp	rs1417349539	missense variant	-	NC_000009.12:g.5832726G>T	gnomAD
ERMP1	Q7Z2K6	p.Ala101Ser	rs778430803	missense variant	-	NC_000009.12:g.5832727C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala101Pro	rs778430803	missense variant	-	NC_000009.12:g.5832727C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His103Tyr	rs569339868	missense variant	-	NC_000009.12:g.5832721G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His103Gln	rs13302671	missense variant	-	NC_000009.12:g.5832719G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His103Arg	rs1488051500	missense variant	-	NC_000009.12:g.5832720T>C	TOPMed
ERMP1	Q7Z2K6	p.Arg104Ser	rs750864682	missense variant	-	NC_000009.12:g.5832718G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg104Cys	rs750864682	missense variant	-	NC_000009.12:g.5832718G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly105Trp	rs538779481	missense variant	-	NC_000009.12:g.5832715C>A	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly105Arg	rs538779481	missense variant	-	NC_000009.12:g.5832715C>T	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe107Val	rs1192268366	missense variant	-	NC_000009.12:g.5832709A>C	TOPMed
ERMP1	Q7Z2K6	p.Phe107Leu	rs1272090139	missense variant	-	NC_000009.12:g.5832707G>C	gnomAD
ERMP1	Q7Z2K6	p.Ala109Glu	rs571350661	missense variant	-	NC_000009.12:g.5832702G>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala109Gly	rs571350661	missense variant	-	NC_000009.12:g.5832702G>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala112Val	rs1412024999	missense variant	-	NC_000009.12:g.5832693G>A	gnomAD
ERMP1	Q7Z2K6	p.Arg113Ser	rs761553950	missense variant	-	NC_000009.12:g.5831028C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp114Val	rs774417762	missense variant	-	NC_000009.12:g.5831026T>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp114Asn	rs1438797989	missense variant	-	NC_000009.12:g.5831027C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp114Tyr	rs1438797989	missense variant	-	NC_000009.12:g.5831027C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr115His	rs749861383	missense variant	-	NC_000009.12:g.5831024A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu116Pro	rs1225611819	missense variant	-	NC_000009.12:g.5831020A>G	TOPMed
ERMP1	Q7Z2K6	p.Glu117Lys	rs762987060	missense variant	-	NC_000009.12:g.5831018C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser121Cys	rs1461612251	missense variant	-	NC_000009.12:g.5831005G>C	TOPMed
ERMP1	Q7Z2K6	p.Ile122Val	rs1281132438	missense variant	-	NC_000009.12:g.5831003T>C	gnomAD
ERMP1	Q7Z2K6	p.Thr126Ser	rs1202863576	missense variant	-	NC_000009.12:g.5830990G>C	TOPMed
ERMP1	Q7Z2K6	p.Glu131Gln	rs1351806649	missense variant	-	NC_000009.12:g.5830976C>G	gnomAD
ERMP1	Q7Z2K6	p.Leu135Val	rs1443163191	missense variant	-	NC_000009.12:g.5830964G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val137Leu	rs776183114	missense variant	-	NC_000009.12:g.5830958C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.His138Arg	rs1173743615	missense variant	-	NC_000009.12:g.5830954T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His138Tyr	rs1181843141	missense variant	-	NC_000009.12:g.5830955G>A	TOPMed
ERMP1	Q7Z2K6	p.His138Pro	rs1173743615	missense variant	-	NC_000009.12:g.5830954T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His138Gln	rs990176768	missense variant	-	NC_000009.12:g.5830953G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr139Cys	rs1405125224	missense variant	-	NC_000009.12:g.5830951T>C	gnomAD
ERMP1	Q7Z2K6	p.Leu140Phe	rs140054744	missense variant	-	NC_000009.12:g.5830949G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu146Val	rs1186172857	missense variant	-	NC_000009.12:g.5830931G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile147Thr	rs1471997068	missense variant	-	NC_000009.12:g.5830927A>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gln150Glu	rs1485636624	missense variant	-	NC_000009.12:g.5830919G>C	gnomAD
ERMP1	Q7Z2K6	p.Ser151Arg	rs147487541	missense variant	-	NC_000009.12:g.5830914G>C	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser151Gly	rs1258767540	missense variant	-	NC_000009.12:g.5830916T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn152Asp	rs748669425	missense variant	-	NC_000009.12:g.5830913T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asn152Ser	rs1283635950	missense variant	-	NC_000009.12:g.5830912T>C	gnomAD
ERMP1	Q7Z2K6	p.Asn152Lys	rs1224612765	missense variant	-	NC_000009.12:g.5830911G>C	gnomAD
ERMP1	Q7Z2K6	p.Ser153Arg	rs1281088411	missense variant	-	NC_000009.12:g.5830908G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser153Asn	rs529357728	missense variant	-	NC_000009.12:g.5830909C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser153Gly	rs1406931015	missense variant	-	NC_000009.12:g.5830910T>C	TOPMed
ERMP1	Q7Z2K6	p.Leu154Arg	rs1178591469	missense variant	-	NC_000009.12:g.5830906A>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu154Val	rs377629831	missense variant	-	NC_000009.12:g.5830907G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His155Tyr	rs191439805	missense variant	-	NC_000009.12:g.5830904G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His155Arg	rs757070166	missense variant	-	NC_000009.12:g.5830903T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His155Pro	rs757070166	missense variant	-	NC_000009.12:g.5830903T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys156Glu	rs1416522687	missense variant	-	NC_000009.12:g.5830901T>C	gnomAD
ERMP1	Q7Z2K6	p.Ser158Leu	rs751332099	missense variant	-	NC_000009.12:g.5830894G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val159Ala	rs763992747	missense variant	-	NC_000009.12:g.5830891A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp160Asn	rs1400935281	missense variant	-	NC_000009.12:g.5830889C>T	gnomAD
ERMP1	Q7Z2K6	p.Asp160Glu	rs1163248177	missense variant	-	NC_000009.12:g.5830887A>C	gnomAD
ERMP1	Q7Z2K6	p.Asp160Gly	rs762934035	missense variant	-	NC_000009.12:g.5830888T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val161Ala	rs1201047789	missense variant	-	NC_000009.12:g.5830885A>G	TOPMed
ERMP1	Q7Z2K6	p.Gln162Glu	rs1269121386	missense variant	-	NC_000009.12:g.5830883G>C	TOPMed
ERMP1	Q7Z2K6	p.Arg163Gln	rs1174664553	missense variant	-	NC_000009.12:g.5830879C>T	TOPMed
ERMP1	Q7Z2K6	p.Arg163Trp	rs1418986910	missense variant	-	NC_000009.12:g.5830880G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro164Ser	rs764770709	missense variant	-	NC_000009.12:g.5830877G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro164Leu	rs759013483	missense variant	-	NC_000009.12:g.5830876G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly166Val	rs1207814867	missense variant	-	NC_000009.12:g.5830870C>A	gnomAD
ERMP1	Q7Z2K6	p.Ile170Met	rs199943247	missense variant	-	NC_000009.12:g.5830857A>C	TOPMed
ERMP1	Q7Z2K6	p.Asp171Asn	rs141447627	missense variant	-	NC_000009.12:g.5830856C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe172Ser	rs898148275	missense variant	-	NC_000009.12:g.5830852A>G	gnomAD
ERMP1	Q7Z2K6	p.Phe172Ile	rs1271463989	missense variant	-	NC_000009.12:g.5830853A>T	gnomAD
ERMP1	Q7Z2K6	p.Gly174Glu	rs148300043	missense variant	-	NC_000009.12:g.5830846C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly175Ser	rs773511760	missense variant	-	NC_000009.12:g.5830844C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr177Arg	rs772450366	missense variant	-	NC_000009.12:g.5830837G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr179His	rs748615944	missense variant	-	NC_000009.12:g.5830832A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr179Cys	rs779437476	missense variant	-	NC_000009.12:g.5830831T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn182Ser	rs780186073	missense variant	-	NC_000009.12:g.5830822T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn182Thr	rs780186073	missense variant	-	NC_000009.12:g.5830822T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile183Val	rs1460570334	missense variant	-	NC_000009.12:g.5830820T>C	gnomAD
ERMP1	Q7Z2K6	p.Asn185Lys	rs756231116	missense variant	-	NC_000009.12:g.5830812A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val186Ile	rs1250691213	missense variant	-	NC_000009.12:g.5830811C>T	TOPMed
ERMP1	Q7Z2K6	p.Lys189Met	rs777668094	missense variant	-	NC_000009.12:g.5830801T>A	ExAC
ERMP1	Q7Z2K6	p.Leu190Val	rs1305029251	missense variant	-	NC_000009.12:g.5830799G>C	gnomAD
ERMP1	Q7Z2K6	p.Pro192Leu	rs758305961	missense variant	-	NC_000009.12:g.5830792G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg193Thr	rs62638714	missense variant	-	NC_000009.12:g.5830789C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg193Ser	rs1189102198	missense variant	-	NC_000009.12:g.5830788T>G	TOPMed
ERMP1	Q7Z2K6	p.Asp194Gly	rs149335278	missense variant	-	NC_000009.12:g.5830786T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly195Glu	rs187506460	missense variant	-	NC_000009.12:g.5830783C>T	1000Genomes,ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala196Gly	rs1283954909	missense variant	-	NC_000009.12:g.5830780G>C	gnomAD
ERMP1	Q7Z2K6	p.Ala196Ser	rs765930579	missense variant	-	NC_000009.12:g.5830781C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.His198Arg	rs1215052182	missense variant	-	NC_000009.12:g.5830774T>C	gnomAD
ERMP1	Q7Z2K6	p.His198Tyr	rs772884929	missense variant	-	NC_000009.12:g.5830775G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala199Gly	rs1193002265	missense variant	-	NC_000009.12:g.5830771G>C	TOPMed
ERMP1	Q7Z2K6	p.Ala202Thr	rs545806699	missense variant	-	NC_000009.12:g.5830763C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn203His	rs201638481	missense variant	-	NC_000009.12:g.5830760T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Cys204Ser	rs961810084	missense variant	-	NC_000009.12:g.5830757A>T	TOPMed
ERMP1	Q7Z2K6	p.Phe206Ser	rs1460755263	missense variant	-	NC_000009.12:g.5830750A>G	gnomAD
ERMP1	Q7Z2K6	p.Ser212Ter	rs1337969653	stop gained	-	NC_000009.12:g.5830732G>C	gnomAD
ERMP1	Q7Z2K6	p.Pro213Thr	rs1003724145	missense variant	-	NC_000009.12:g.5830730G>T	TOPMed
ERMP1	Q7Z2K6	p.Ser216Ile	rs574548226	missense variant	-	NC_000009.12:g.5825213C>A	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val220Gly	rs898857061	missense variant	-	NC_000009.12:g.5825201A>C	TOPMed
ERMP1	Q7Z2K6	p.Cys222Phe	rs745999520	missense variant	-	NC_000009.12:g.5825195C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser223Ala	rs776985295	missense variant	-	NC_000009.12:g.5825193A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser223Ter	rs1440470790	stop gained	-	NC_000009.12:g.5825192G>C	TOPMed
ERMP1	Q7Z2K6	p.Met225Thr	rs199615496	missense variant	-	NC_000009.12:g.5825186A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu226Val	rs1346715604	missense variant	-	NC_000009.12:g.5825184G>C	TOPMed
ERMP1	Q7Z2K6	p.Val228Leu	rs1315893742	missense variant	-	NC_000009.12:g.5825178C>G	gnomAD
ERMP1	Q7Z2K6	p.Arg230Cys	rs747273080	missense variant	-	NC_000009.12:g.5825172G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg230His	rs778526397	missense variant	-	NC_000009.12:g.5825171C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val231Ile	rs1312842998	missense variant	-	NC_000009.12:g.5825169C>T	gnomAD
ERMP1	Q7Z2K6	p.Thr234Ala	rs1404508834	missense variant	-	NC_000009.12:g.5825160T>C	gnomAD
ERMP1	Q7Z2K6	p.Ala238Pro	rs1199491121	missense variant	-	NC_000009.12:g.5825148C>G	TOPMed
ERMP1	Q7Z2K6	p.His240Arg	rs1159605873	missense variant	-	NC_000009.12:g.5825141T>C	gnomAD
ERMP1	Q7Z2K6	p.His240Asp	rs982284124	missense variant	-	NC_000009.12:g.5825142G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His240Tyr	rs982284124	missense variant	-	NC_000009.12:g.5825142G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile244Met	rs144810528	missense variant	-	NC_000009.12:g.5825128T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile244Val	rs948164910	missense variant	-	NC_000009.12:g.5825130T>C	TOPMed
ERMP1	Q7Z2K6	p.Leu246Val	rs1426578376	missense variant	-	NC_000009.12:g.5825124G>C	TOPMed
ERMP1	Q7Z2K6	p.Phe247Leu	rs750003692	missense variant	-	NC_000009.12:g.5825121A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn248Lys	rs989702728	missense variant	-	NC_000009.12:g.5825116A>T	TOPMed
ERMP1	Q7Z2K6	p.Gly249Asp	rs1395361795	missense variant	-	NC_000009.12:g.5825114C>T	TOPMed
ERMP1	Q7Z2K6	p.Gly249Ser	rs767026505	missense variant	-	NC_000009.12:g.5825115C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu252Gly	rs1475492990	missense variant	-	NC_000009.12:g.5825105T>C	gnomAD
ERMP1	Q7Z2K6	p.Val254Ile	rs1257666769	missense variant	-	NC_000009.12:g.5825100C>T	gnomAD
ERMP1	Q7Z2K6	p.Leu255Trp	rs751253546	missense variant	-	NC_000009.12:g.5825096A>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser258Gly	rs1190174091	missense variant	-	NC_000009.12:g.5823998T>C	gnomAD
ERMP1	Q7Z2K6	p.His259Asp	rs372144973	missense variant	-	NC_000009.12:g.5823995G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His259Tyr	rs372144973	missense variant	-	NC_000009.12:g.5823995G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile262Val	rs1290062631	missense variant	-	NC_000009.12:g.5823986T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His265Tyr	rs1214655274	missense variant	-	NC_000009.12:g.5823977G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro266Thr	rs756799204	missense variant	-	NC_000009.12:g.5823974G>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro266Ala	rs756799204	missense variant	-	NC_000009.12:g.5823974G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Trp267Ser	rs570813201	missense variant	-	NC_000009.12:g.5823970C>G	1000Genomes
ERMP1	Q7Z2K6	p.Ser269Asn	rs751147418	missense variant	-	NC_000009.12:g.5823964C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser269Ile	rs751147418	missense variant	-	NC_000009.12:g.5823964C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser269Gly	rs1327165964	missense variant	-	NC_000009.12:g.5823965T>C	gnomAD
ERMP1	Q7Z2K6	p.Arg272His	rs141023353	missense variant	-	NC_000009.12:g.5823955C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg272Pro	rs141023353	missense variant	-	NC_000009.12:g.5823955C>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg272Cys	rs199525036	missense variant	-	NC_000009.12:g.5823956G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg272Gly	rs199525036	missense variant	-	NC_000009.12:g.5823956G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala273Thr	rs753035519	missense variant	-	NC_000009.12:g.5823953C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile275Leu	rs1166133707	missense variant	-	NC_000009.12:g.5823947T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile275Val	rs1166133707	missense variant	-	NC_000009.12:g.5823947T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn276Ile	rs1390320586	missense variant	-	NC_000009.12:g.5823943T>A	gnomAD
ERMP1	Q7Z2K6	p.Leu277Val	rs1161297052	missense variant	-	NC_000009.12:g.5823941G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val282Ile	rs1251948382	missense variant	-	NC_000009.12:g.5823926C>T	gnomAD
ERMP1	Q7Z2K6	p.Val282Ala	rs1193847157	missense variant	-	NC_000009.12:g.5823925A>G	gnomAD
ERMP1	Q7Z2K6	p.Gly284Arg	rs1453737562	missense variant	-	NC_000009.12:g.5823920C>T	gnomAD
ERMP1	Q7Z2K6	p.Gln290His	rs956581420	missense variant	-	NC_000009.12:g.5823900T>A	TOPMed
ERMP1	Q7Z2K6	p.Gln290Lys	rs760859531	missense variant	-	NC_000009.12:g.5823902G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr291Ser	rs773294457	missense variant	-	NC_000009.12:g.5823899T>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly292Arg	rs1276884433	missense variant	-	NC_000009.12:g.5823896C>G	gnomAD
ERMP1	Q7Z2K6	p.Asn295Ser	rs146473341	missense variant	-	NC_000009.12:g.5813026T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Trp297Cys	rs1480559001	missense variant	-	NC_000009.12:g.5813019C>G	TOPMed
ERMP1	Q7Z2K6	p.Trp297Leu	rs778760469	missense variant	-	NC_000009.12:g.5813020C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu298Val	rs1175342070	missense variant	-	NC_000009.12:g.5813018A>C	TOPMed
ERMP1	Q7Z2K6	p.Val299Phe	rs755382310	missense variant	-	NC_000009.12:g.5813015C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln300Pro	rs754322557	missense variant	-	NC_000009.12:g.5813011T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala301Val	rs374951871	missense variant	-	NC_000009.12:g.5813008G>A	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val303Leu	rs1467549481	missense variant	-	NC_000009.12:g.5813003C>G	TOPMed
ERMP1	Q7Z2K6	p.Ser304Ter	rs1292928920	stop gained	-	NC_000009.12:g.5812999G>C	gnomAD
ERMP1	Q7Z2K6	p.Ala305Thr	rs1283877168	missense variant	-	NC_000009.12:g.5812997C>T	gnomAD
ERMP1	Q7Z2K6	p.Ala306Val	rs756586390	missense variant	-	NC_000009.12:g.5812993G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys307Glu	rs750924259	missense variant	-	NC_000009.12:g.5812991T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys307Thr	rs1289978365	missense variant	-	NC_000009.12:g.5812990T>G	gnomAD
ERMP1	Q7Z2K6	p.His308Pro	rs1231388260	missense variant	-	NC_000009.12:g.5812987T>G	gnomAD
ERMP1	Q7Z2K6	p.Ala311Ser	rs767603607	missense variant	-	NC_000009.12:g.5812979C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser312Phe	rs1324139720	missense variant	-	NC_000009.12:g.5812975G>A	gnomAD
ERMP1	Q7Z2K6	p.Val313Leu	rs764363850	missense variant	-	NC_000009.12:g.5812973C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val314Met	rs150323907	missense variant	-	NC_000009.12:g.5812970C>T	ESP
ERMP1	Q7Z2K6	p.Gln316Ter	rs947998523	stop gained	-	NC_000009.12:g.5812964G>A	gnomAD
ERMP1	Q7Z2K6	p.Phe319Val	rs1183701730	missense variant	-	NC_000009.12:g.5812955A>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gln320His	rs140191022	missense variant	-	NC_000009.12:g.5812950C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile324Val	rs1346302449	missense variant	-	NC_000009.12:g.5812940T>C	TOPMed
ERMP1	Q7Z2K6	p.Ser326Leu	rs151153615	missense variant	-	NC_000009.12:g.5812933G>A	ESP,TOPMed
ERMP1	Q7Z2K6	p.Asp327Gly	rs1321107652	missense variant	-	NC_000009.12:g.5812930T>C	TOPMed
ERMP1	Q7Z2K6	p.Arg331His	rs771593182	missense variant	-	NC_000009.12:g.5812918C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg331Leu	rs771593182	missense variant	-	NC_000009.12:g.5812918C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg331Cys	rs773065056	missense variant	-	NC_000009.12:g.5812919G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg331Gly	rs773065056	missense variant	-	NC_000009.12:g.5812919G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg331Ser	rs773065056	missense variant	-	NC_000009.12:g.5812919G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr333Cys	rs747721438	missense variant	-	NC_000009.12:g.5812912T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe336Ser	rs1290559975	missense variant	-	NC_000009.12:g.5812903A>G	gnomAD
ERMP1	Q7Z2K6	p.Asn338Ser	rs142052069	missense variant	-	NC_000009.12:g.5812897T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn338Thr	rs142052069	missense variant	-	NC_000009.12:g.5812897T>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile339Met	rs748964454	missense variant	-	NC_000009.12:g.5812893A>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro340Leu	rs780418996	missense variant	-	NC_000009.12:g.5812891G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile342Thr	rs377105796	missense variant	-	NC_000009.12:g.5812214A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile342Val	rs199952799	missense variant	-	NC_000009.12:g.5812215T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp343Gly	rs747485935	missense variant	-	NC_000009.12:g.5812211T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile347Thr	rs1372772801	missense variant	-	NC_000009.12:g.5812199A>G	TOPMed
ERMP1	Q7Z2K6	p.Asn349Ser	rs141049730	missense variant	-	NC_000009.12:g.5812193T>C	ESP
ERMP1	Q7Z2K6	p.Gly350Ter	rs778303333	stop gained	-	NC_000009.12:g.5812191C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile352Thr	rs568490069	missense variant	-	NC_000009.12:g.5812184A>G	1000Genomes
ERMP1	Q7Z2K6	p.His354Pro	rs1285472083	missense variant	-	NC_000009.12:g.5812178T>G	TOPMed
ERMP1	Q7Z2K6	p.His354Asp	rs748246627	missense variant	-	NC_000009.12:g.5812179G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp358His	rs1230776205	missense variant	-	NC_000009.12:g.5812167C>G	gnomAD
ERMP1	Q7Z2K6	p.Ala360Thr	rs1277668315	missense variant	-	NC_000009.12:g.5812161C>T	TOPMed
ERMP1	Q7Z2K6	p.Ala360Val	rs755097681	missense variant	-	NC_000009.12:g.5812160G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile363Val	rs758598311	missense variant	-	NC_000009.12:g.5812152T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr365Ala	rs1159552214	missense variant	-	NC_000009.12:g.5812146T>C	gnomAD
ERMP1	Q7Z2K6	p.Asp366Gly	rs751526437	missense variant	-	NC_000009.12:g.5812142T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser367Cys	rs147751201	missense variant	-	NC_000009.12:g.5812139G>C	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser367Ala	rs538690277	missense variant	-	NC_000009.12:g.5812140A>C	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln369Lys	rs935231853	missense variant	-	NC_000009.12:g.5812134G>T	TOPMed
ERMP1	Q7Z2K6	p.Gln369Glu	rs935231853	missense variant	-	NC_000009.12:g.5812134G>C	TOPMed
ERMP1	Q7Z2K6	p.Gly372Val	rs1392728978	missense variant	-	NC_000009.12:g.5811323C>A	gnomAD
ERMP1	Q7Z2K6	p.Gly372Arg	rs1465463336	missense variant	-	NC_000009.12:g.5812125C>G	gnomAD
ERMP1	Q7Z2K6	p.Asp373Asn	rs1436354752	missense variant	-	NC_000009.12:g.5811321C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val378Phe	rs1170155121	missense variant	-	NC_000009.12:g.5811306C>A	gnomAD
ERMP1	Q7Z2K6	p.Leu379Val	rs770083260	missense variant	-	NC_000009.12:g.5811303G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys380Thr	rs777667883	missense variant	-	NC_000009.12:g.5811299T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys380Glu	rs746110746	missense variant	-	NC_000009.12:g.5811300T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.His381Arg	rs145625113	missense variant	-	NC_000009.12:g.5811296T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu382Val	rs1249087343	missense variant	-	NC_000009.12:g.5811294G>C	gnomAD
ERMP1	Q7Z2K6	p.Ala383Gly	rs907366984	missense variant	-	NC_000009.12:g.5811290G>C	TOPMed
ERMP1	Q7Z2K6	p.Ser385Cys	rs375663214	missense variant	-	NC_000009.12:g.5811284G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp386Gly	rs1276864317	missense variant	-	NC_000009.12:g.5811281T>C	gnomAD
ERMP1	Q7Z2K6	p.Asp386Glu	rs1350714305	missense variant	-	NC_000009.12:g.5811280A>C	TOPMed
ERMP1	Q7Z2K6	p.Asp386Asn	rs1305226915	missense variant	-	NC_000009.12:g.5811282C>T	TOPMed
ERMP1	Q7Z2K6	p.Met387Thr	rs1209008069	missense variant	-	NC_000009.12:g.5811278A>G	gnomAD
ERMP1	Q7Z2K6	p.Leu388Pro	rs1436868542	missense variant	-	NC_000009.12:g.5811275A>G	TOPMed
ERMP1	Q7Z2K6	p.Ala389Thr	rs866325120	missense variant	-	NC_000009.12:g.5811273C>T	-
ERMP1	Q7Z2K6	p.Ala389Gly	rs199811536	missense variant	-	NC_000009.12:g.5811272G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala390Thr	rs753281616	missense variant	-	NC_000009.12:g.5811270C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala390Gly	rs765891108	missense variant	-	NC_000009.12:g.5811269G>C	ExAC
ERMP1	Q7Z2K6	p.Ala391Thr	rs755714058	missense variant	-	NC_000009.12:g.5811267C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser392Ala	rs1286432829	missense variant	-	NC_000009.12:g.5811264A>C	gnomAD
ERMP1	Q7Z2K6	p.Ser392Phe	rs750108536	missense variant	-	NC_000009.12:g.5811263G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys393Glu	rs767743378	missense variant	-	NC_000009.12:g.5811261T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys393Arg	rs1309245369	missense variant	-	NC_000009.12:g.5811260T>C	gnomAD
ERMP1	Q7Z2K6	p.Lys393Thr	rs1309245369	missense variant	-	NC_000009.12:g.5811260T>G	gnomAD
ERMP1	Q7Z2K6	p.Lys393Gln	rs767743378	missense variant	-	NC_000009.12:g.5811261T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr394Cys	rs140094646	missense variant	-	NC_000009.12:g.5811257T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg395Gln	rs774713963	missense variant	-	NC_000009.12:g.5811254C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg395Ter	rs1401003887	stop gained	-	NC_000009.12:g.5811255G>A	gnomAD
ERMP1	Q7Z2K6	p.His396Tyr	rs1479238729	missense variant	-	NC_000009.12:g.5811252G>A	gnomAD
ERMP1	Q7Z2K6	p.Gly397Arg	rs1323645914	missense variant	-	NC_000009.12:g.5811249C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn398His	rs201496581	missense variant	-	NC_000009.12:g.5811246T>G	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met399Thr	rs1182179750	missense variant	-	NC_000009.12:g.5811242A>G	gnomAD
ERMP1	Q7Z2K6	p.Met399Val	rs1225589487	missense variant	-	NC_000009.12:g.5811243T>C	TOPMed
ERMP1	Q7Z2K6	p.Phe401Val	rs763567359	missense variant	-	NC_000009.12:g.5811237A>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe402Ile	rs775659029	missense variant	-	NC_000009.12:g.5811234A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe408Cys	rs1346929169	missense variant	-	NC_000009.12:g.5811215A>C	gnomAD
ERMP1	Q7Z2K6	p.Phe408Ser	rs1346929169	missense variant	-	NC_000009.12:g.5811215A>G	gnomAD
ERMP1	Q7Z2K6	p.Ile410Val	rs776959101	missense variant	-	NC_000009.12:g.5811210T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr412His	rs1227714279	missense variant	-	NC_000009.12:g.5811204A>G	gnomAD
ERMP1	Q7Z2K6	p.Tyr412Cys	rs532414900	missense variant	-	NC_000009.12:g.5811203T>C	ExAC
ERMP1	Q7Z2K6	p.Tyr412Ser	rs532414900	missense variant	-	NC_000009.12:g.5811203T>G	ExAC
ERMP1	Q7Z2K6	p.Pro413Ala	rs1395269132	missense variant	-	NC_000009.12:g.5811201G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro413Leu	rs1054701833	missense variant	-	NC_000009.12:g.5811200G>A	TOPMed
ERMP1	Q7Z2K6	p.Ser414Cys	rs573494515	missense variant	-	NC_000009.12:g.5811197G>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser414Thr	rs1289715055	missense variant	-	NC_000009.12:g.5811198A>T	gnomAD
ERMP1	Q7Z2K6	p.Arg415Cys	rs200294638	missense variant	-	NC_000009.12:g.5811195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg415Ser	rs200294638	missense variant	-	NC_000009.12:g.5811195G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg415His	rs749246662	missense variant	-	NC_000009.12:g.5811194C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile419Val	rs149390224	missense variant	-	NC_000009.12:g.5811183T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile419Phe	rs149390224	missense variant	-	NC_000009.12:g.5811183T>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile420Val	rs1158818953	missense variant	-	NC_000009.12:g.5811180T>C	gnomAD
ERMP1	Q7Z2K6	p.Asn421Asp	rs1458247075	missense variant	-	NC_000009.12:g.5811177T>C	gnomAD
ERMP1	Q7Z2K6	p.Tyr422Ser	rs751893530	missense variant	-	NC_000009.12:g.5811173T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr422Cys	rs751893530	missense variant	-	NC_000009.12:g.5811173T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Met423Ile	rs369837590	missense variant	-	NC_000009.12:g.5811169C>G	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met423Val	rs536948751	missense variant	-	NC_000009.12:g.5811171T>C	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val425Ile	rs765382489	missense variant	-	NC_000009.12:g.5811165C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Met426Ile	rs1285456822	missense variant	-	NC_000009.12:g.5811160C>A	TOPMed
ERMP1	Q7Z2K6	p.Gly427Asp	rs776716376	missense variant	-	NC_000009.12:g.5811158C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val428Leu	rs1286322291	missense variant	-	NC_000009.12:g.5811156C>G	gnomAD
ERMP1	Q7Z2K6	p.Val428Gly	rs192189369	missense variant	-	NC_000009.12:g.5811155A>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr431Ser	rs1284211133	missense variant	-	NC_000009.12:g.5811146T>G	gnomAD
ERMP1	Q7Z2K6	p.Tyr431Asn	rs754823307	missense variant	-	NC_000009.12:g.5811147A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu432Val	rs139768756	missense variant	-	NC_000009.12:g.5811144G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys434Arg	rs1362515104	missense variant	-	NC_000009.12:g.5811137T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys435Gln	rs202014818	missense variant	-	NC_000009.12:g.5811135T>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe436Leu	rs371168276	missense variant	-	NC_000009.12:g.5811132A>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro439Leu	rs749193439	missense variant	-	NC_000009.12:g.5811122G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro439Arg	rs749193439	missense variant	-	NC_000009.12:g.5811122G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys440Asn	rs77475899	missense variant	-	NC_000009.12:g.5811118T>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His441Arg	rs769282050	missense variant	-	NC_000009.12:g.5811116T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys442Glu	rs745308242	missense variant	-	NC_000009.12:g.5811114T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys442Ter	rs745308242	stop gained	-	NC_000009.12:g.5811114T>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr443Ile	rs1163967080	missense variant	-	NC_000009.12:g.5810231G>A	TOPMed
ERMP1	Q7Z2K6	p.Lys448Glu	rs1205433037	missense variant	-	NC_000009.12:g.5810217T>C	gnomAD
ERMP1	Q7Z2K6	p.Lys448Asn	rs1308835098	missense variant	-	NC_000009.12:g.5810215C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp449Val	rs150624756	missense variant	-	NC_000009.12:g.5810213T>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu451Ser	rs376532967	missense variant	-	NC_000009.12:g.5810207A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu454Pro	rs777623107	missense variant	-	NC_000009.12:g.5810198A>G	ExAC
ERMP1	Q7Z2K6	p.Thr457Ser	rs758828525	missense variant	-	NC_000009.12:g.5810189G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu458Ser	rs748459724	missense variant	-	NC_000009.12:g.5810186A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu458Phe	rs1379458412	missense variant	-	NC_000009.12:g.5810185C>G	TOPMed
ERMP1	Q7Z2K6	p.Phe462Cys	rs1308655957	missense variant	-	NC_000009.12:g.5810174A>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe462Leu	rs768950275	missense variant	-	NC_000009.12:g.5810173G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr463Ile	rs755468335	missense variant	-	NC_000009.12:g.5810171G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu465Phe	rs754338131	missense variant	-	NC_000009.12:g.5810166G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr467Ile	rs766451152	missense variant	-	NC_000009.12:g.5810159G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val468Ile	rs750645912	missense variant	-	NC_000009.12:g.5810157C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val468Gly	rs1182208588	missense variant	-	NC_000009.12:g.5810156A>C	gnomAD
ERMP1	Q7Z2K6	p.Ile470Asn	rs762033614	missense variant	-	NC_000009.12:g.5810150A>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile470Val	rs767796823	missense variant	-	NC_000009.12:g.5810151T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe474Leu	rs1265316327	missense variant	-	NC_000009.12:g.5810137G>C	gnomAD
ERMP1	Q7Z2K6	p.Leu477Pro	rs1227107615	missense variant	-	NC_000009.12:g.5810129A>G	gnomAD
ERMP1	Q7Z2K6	p.Ile478Met	rs1289105399	missense variant	-	NC_000009.12:g.5810125A>C	gnomAD
ERMP1	Q7Z2K6	p.Ile478Thr	rs765047672	missense variant	-	NC_000009.12:g.5810126A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly479Glu	rs1393251268	missense variant	-	NC_000009.12:g.5810123C>T	gnomAD
ERMP1	Q7Z2K6	p.Gln480Ter	rs759485756	stop gained	-	NC_000009.12:g.5810121G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gln480Leu	rs776477983	missense variant	-	NC_000009.12:g.5810120T>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser481Cys	rs913395669	missense variant	-	NC_000009.12:g.5810117G>C	gnomAD
ERMP1	Q7Z2K6	p.Ser483Leu	rs1449023291	missense variant	-	NC_000009.12:g.5810111G>A	gnomAD
ERMP1	Q7Z2K6	p.Tyr485Cys	rs770458720	missense variant	-	NC_000009.12:g.5810105T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn486Asp	rs141830507	missense variant	-	NC_000009.12:g.5810103T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn486Lys	rs772855387	missense variant	-	NC_000009.12:g.5810101G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe488Leu	rs1411090503	missense variant	-	NC_000009.12:g.5810097A>G	gnomAD
ERMP1	Q7Z2K6	p.Tyr489Cys	rs200917902	missense variant	-	NC_000009.12:g.5810093T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser491Cys	rs1253459996	missense variant	-	NC_000009.12:g.5810087G>C	gnomAD
ERMP1	Q7Z2K6	p.Val492Ile	rs1352762953	missense variant	-	NC_000009.12:g.5810085C>T	TOPMed
ERMP1	Q7Z2K6	p.Cys493Ter	rs144889308	stop gained	-	NC_000009.12:g.5810080A>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Cys493Phe	rs559305338	missense variant	-	NC_000009.12:g.5810081C>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu494Val	rs780485865	missense variant	-	NC_000009.12:g.5810079G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr495Cys	rs935689284	missense variant	-	NC_000009.12:g.5810075T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr497Ala	rs865803163	missense variant	-	NC_000009.12:g.5810070T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala498Pro	rs1328878845	missense variant	-	NC_000009.12:g.5810067C>G	gnomAD
ERMP1	Q7Z2K6	p.Thr499Ala	rs925608780	missense variant	-	NC_000009.12:g.5810064T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr499Pro	rs925608780	missense variant	-	NC_000009.12:g.5810064T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr499Ile	rs528887474	missense variant	-	NC_000009.12:g.5810063G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile503Met	rs1383776232	missense variant	-	NC_000009.12:g.5810050T>C	gnomAD
ERMP1	Q7Z2K6	p.Ile503Val	rs767603006	missense variant	-	NC_000009.12:g.5810052T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile504Met	rs757428065	missense variant	-	NC_000009.12:g.5810047T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile506Met	rs1338492209	missense variant	-	NC_000009.12:g.5810041T>C	gnomAD
ERMP1	Q7Z2K6	p.Ile506Lys	rs142615324	missense variant	-	NC_000009.12:g.5810042A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile506Thr	rs142615324	missense variant	-	NC_000009.12:g.5810042A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His507Asn	rs138074030	missense variant	-	NC_000009.12:g.5810040G>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr508Ser	rs776625042	missense variant	-	NC_000009.12:g.5810036G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr508Ala	rs1387620728	missense variant	-	NC_000009.12:g.5810037T>C	gnomAD
ERMP1	Q7Z2K6	p.Leu509Val	rs745801198	missense variant	-	NC_000009.12:g.5810034G>C	TOPMed
ERMP1	Q7Z2K6	p.Ala510Val	rs543515732	missense variant	-	NC_000009.12:g.5810030G>A	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala510Gly	rs543515732	missense variant	-	NC_000009.12:g.5810030G>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys511Glu	rs1163406845	missense variant	-	NC_000009.12:g.5810028T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg512Ile	rs374389047	missense variant	-	NC_000009.12:g.5810024C>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe513Leu	rs771740637	missense variant	-	NC_000009.12:g.5810022A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr515His	rs761526137	missense variant	-	NC_000009.12:g.5810016A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met516Val	rs368185505	missense variant	-	NC_000009.12:g.5810013T>C	ESP,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Met516Leu	rs368185505	missense variant	-	NC_000009.12:g.5810013T>A	ESP,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala518Val	rs1346858505	missense variant	-	NC_000009.12:g.5805781G>A	gnomAD
ERMP1	Q7Z2K6	p.Gln521His	rs762687385	missense variant	-	NC_000009.12:g.5805771C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly524Arg	rs202074914	missense variant	-	NC_000009.12:g.5805764C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser531Leu	rs781707680	missense variant	-	NC_000009.12:g.5805742G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu532Val	rs1249742161	missense variant	-	NC_000009.12:g.5805740G>C	gnomAD
ERMP1	Q7Z2K6	p.Phe538Leu	rs752996649	missense variant	-	NC_000009.12:g.5805720A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe538Leu	rs148859023	missense variant	-	NC_000009.12:g.5805722A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr541Ile	rs756022504	missense variant	-	NC_000009.12:g.5805712G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu542Val	rs767633711	missense variant	-	NC_000009.12:g.5805710G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr543Pro	rs1262822160	missense variant	-	NC_000009.12:g.5805707T>G	TOPMed
ERMP1	Q7Z2K6	p.Gln545His	rs1482804626	missense variant	-	NC_000009.12:g.5805699T>G	TOPMed
ERMP1	Q7Z2K6	p.Gln545Glu	rs761849108	missense variant	-	NC_000009.12:g.5805701G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser549Leu	rs150106740	missense variant	-	NC_000009.12:g.5805688G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser549Ala	rs763688629	missense variant	-	NC_000009.12:g.5805689A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser549Pro	rs763688629	missense variant	-	NC_000009.12:g.5805689A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala550Val	rs1252549250	missense variant	-	NC_000009.12:g.5805685G>A	TOPMed
ERMP1	Q7Z2K6	p.Phe551Ser	rs141976024	missense variant	-	NC_000009.12:g.5805682A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe551Leu	rs1016741932	missense variant	-	NC_000009.12:g.5805681A>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser553Ile	rs776984067	missense variant	-	NC_000009.12:g.5805676C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala554Thr	rs1159042793	missense variant	-	NC_000009.12:g.5805674C>T	gnomAD
ERMP1	Q7Z2K6	p.Val555Phe	rs1470584641	missense variant	-	NC_000009.12:g.5805671C>A	gnomAD
ERMP1	Q7Z2K6	p.Ala558Val	rs374260134	missense variant	-	NC_000009.12:g.5805661G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe559Tyr	rs773126391	missense variant	-	NC_000009.12:g.5805658A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu561Trp	rs772234943	missense variant	-	NC_000009.12:g.5805652A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr563Ala	rs1227696868	missense variant	-	NC_000009.12:g.5805647T>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu565Phe	rs748295882	missense variant	-	NC_000009.12:g.5805641G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Cys566Ter	rs1397698309	stop gained	-	NC_000009.12:g.5805636A>T	TOPMed
ERMP1	Q7Z2K6	p.Cys566Phe	rs745594980	missense variant	-	NC_000009.12:g.5805637C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.His568Arg	rs1339468650	missense variant	-	NC_000009.12:g.5805631T>C	gnomAD
ERMP1	Q7Z2K6	p.His568Pro	rs1339468650	missense variant	-	NC_000009.12:g.5805631T>G	gnomAD
ERMP1	Q7Z2K6	p.Asp570Tyr	rs971098304	missense variant	-	NC_000009.12:g.5805626C>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe571Leu	rs1306733781	missense variant	-	NC_000009.12:g.5805623A>G	TOPMed
ERMP1	Q7Z2K6	p.Lys572Arg	rs781150056	missense variant	-	NC_000009.12:g.5805619T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly575Asp	rs1243821528	missense variant	-	NC_000009.12:g.5805217C>T	gnomAD
ERMP1	Q7Z2K6	p.Gln577Arg	rs777829058	missense variant	-	NC_000009.12:g.5805211T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln577Pro	rs777829058	missense variant	-	NC_000009.12:g.5805211T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe580Cys	rs1036487068	missense variant	-	NC_000009.12:g.5805202A>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe580Ile	rs758273759	missense variant	-	NC_000009.12:g.5805203A>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe580Leu	rs752193550	missense variant	-	NC_000009.12:g.5805201A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe580Tyr	rs1036487068	missense variant	-	NC_000009.12:g.5805202A>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile581Phe	rs1272783946	missense variant	-	NC_000009.12:g.5805200T>A	gnomAD
ERMP1	Q7Z2K6	p.Ala582Gly	rs1215567183	missense variant	-	NC_000009.12:g.5805196G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu585Phe	rs754583115	missense variant	-	NC_000009.12:g.5805188G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly587Glu	rs1436384349	missense variant	-	NC_000009.12:g.5805181C>T	gnomAD
ERMP1	Q7Z2K6	p.Met588Ile	rs761159172	missense variant	-	NC_000009.12:g.5805177C>T	ExAC
ERMP1	Q7Z2K6	p.Phe589Cys	rs1304980285	missense variant	-	NC_000009.12:g.5805175A>C	gnomAD
ERMP1	Q7Z2K6	p.Ile590Ser	rs750893707	missense variant	-	NC_000009.12:g.5805172A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro591Ser	rs768004905	missense variant	-	NC_000009.12:g.5805170G>A	ExAC
ERMP1	Q7Z2K6	p.Leu593Arg	rs769612809	missense variant	-	NC_000009.12:g.5805163A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala595Val	rs1410378053	missense variant	-	NC_000009.12:g.5805157G>A	gnomAD
ERMP1	Q7Z2K6	p.Leu596Ser	rs763243350	missense variant	-	NC_000009.12:g.5805154A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu596Ter	rs763243350	stop gained	-	NC_000009.12:g.5805154A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu596Phe	rs1269008326	missense variant	-	NC_000009.12:g.5805153C>G	gnomAD
ERMP1	Q7Z2K6	p.Ile599Met	rs1200916544	missense variant	-	NC_000009.12:g.5805144G>C	gnomAD
ERMP1	Q7Z2K6	p.Phe603Leu	rs746751350	missense variant	-	NC_000009.12:g.5805132A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe603Leu	rs746751350	missense variant	-	NC_000009.12:g.5805132A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe603Leu	rs376656998	missense variant	-	NC_000009.12:g.5805134A>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Met605Leu	rs973454895	missense variant	-	NC_000009.12:g.5805128T>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe606Val	rs1345337837	missense variant	-	NC_000009.12:g.5805125A>C	TOPMed
ERMP1	Q7Z2K6	p.Thr607Ile	rs748066560	missense variant	-	NC_000009.12:g.5805121G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr607Pro	rs145665493	missense variant	-	NC_000009.12:g.5805122T>G	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro608Leu	rs868059008	missense variant	-	NC_000009.12:g.5805118G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro608Ala	rs1285711163	missense variant	-	NC_000009.12:g.5805119G>C	gnomAD
ERMP1	Q7Z2K6	p.Leu610Phe	rs778364562	missense variant	-	NC_000009.12:g.5805113G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu610Val	rs778364562	missense variant	-	NC_000009.12:g.5805113G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly611Arg	rs1444544681	missense variant	-	NC_000009.12:g.5805110C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly611Arg	rs1444544681	missense variant	-	NC_000009.12:g.5805110C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu616Ala	rs140187945	missense variant	-	NC_000009.12:g.5805094T>G	ESP,ExAC,TOPMed
ERMP1	Q7Z2K6	p.Pro618Ala	rs937598519	missense variant	-	NC_000009.12:g.5805089G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val621Asp	rs1247390562	missense variant	-	NC_000009.12:g.5805079A>T	TOPMed
ERMP1	Q7Z2K6	p.Ala624Thr	rs755729354	missense variant	-	NC_000009.12:g.5805071C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser625Tyr	rs750745938	missense variant	-	NC_000009.12:g.5805067G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu627Met	rs1177429137	missense variant	-	NC_000009.12:g.5805062A>T	gnomAD
ERMP1	Q7Z2K6	p.Ala628Thr	rs1431456504	missense variant	-	NC_000009.12:g.5805059C>T	TOPMed
ERMP1	Q7Z2K6	p.Met632Val	rs752157842	missense variant	-	NC_000009.12:g.5805047T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu634Ile	rs1369915258	missense variant	-	NC_000009.12:g.5805041G>T	TOPMed
ERMP1	Q7Z2K6	p.Ser635Thr	rs1427234531	missense variant	-	NC_000009.12:g.5805038A>T	TOPMed
ERMP1	Q7Z2K6	p.Ser635Leu	rs763187395	missense variant	-	NC_000009.12:g.5805037G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser635Ter	rs763187395	stop gained	-	NC_000009.12:g.5805037G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr637Cys	rs769999046	missense variant	-	NC_000009.12:g.5805031T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr637Ter	rs1227085129	stop gained	-	NC_000009.12:g.5805030A>C	gnomAD
ERMP1	Q7Z2K6	p.Ile642Val	rs1378609052	missense variant	-	NC_000009.12:g.5801319T>C	TOPMed
ERMP1	Q7Z2K6	p.Tyr643Cys	rs1314702950	missense variant	-	NC_000009.12:g.5801315T>C	gnomAD
ERMP1	Q7Z2K6	p.Lys646Met	rs375166716	missense variant	-	NC_000009.12:g.5801306T>A	ESP,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser647Arg	rs371939957	missense variant	-	NC_000009.12:g.5801302G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr648Arg	rs1289353824	missense variant	-	NC_000009.12:g.5801300G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys649Gln	rs769231638	missense variant	-	NC_000009.12:g.5801298T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys649Glu	rs769231638	missense variant	-	NC_000009.12:g.5801298T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys649Arg	rs745518655	missense variant	-	NC_000009.12:g.5801297T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr651Asn	rs550177754	missense variant	-	NC_000009.12:g.5801291G>T	1000Genomes,ExAC
ERMP1	Q7Z2K6	p.Met652Thr	rs756970090	missense variant	-	NC_000009.12:g.5801288A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met652Leu	rs1447444865	missense variant	-	NC_000009.12:g.5801289T>A	TOPMed
ERMP1	Q7Z2K6	p.Thr654Ser	rs147318623	missense variant	-	NC_000009.12:g.5801283T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr656Ile	rs367901085	missense variant	-	NC_000009.12:g.5801276G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu657Ser	rs1428262071	missense variant	-	NC_000009.12:g.5801273A>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Cys659Tyr	rs1263114144	missense variant	-	NC_000009.12:g.5801267C>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile661Val	rs753294459	missense variant	-	NC_000009.12:g.5801262T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile661Leu	rs753294459	missense variant	-	NC_000009.12:g.5801262T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser668Ile	rs961536341	missense variant	-	NC_000009.12:g.5801240C>A	TOPMed
ERMP1	Q7Z2K6	p.Thr670Ile	rs370310060	missense variant	-	NC_000009.12:g.5801234G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe671Val	rs766445800	missense variant	-	NC_000009.12:g.5801232A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe672Leu	rs1477166550	missense variant	-	NC_000009.12:g.5801229A>G	TOPMed
ERMP1	Q7Z2K6	p.Ser675Gly	rs774087864	missense variant	-	NC_000009.12:g.5801220T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser675Arg	rs763909889	missense variant	-	NC_000009.12:g.5801218G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asn677Ser	rs199887119	missense variant	-	NC_000009.12:g.5801213T>C	1000Genomes
ERMP1	Q7Z2K6	p.Asn677Thr	rs199887119	missense variant	-	NC_000009.12:g.5801213T>G	1000Genomes
ERMP1	Q7Z2K6	p.Asn677Asp	rs1343107211	missense variant	-	NC_000009.12:g.5801214T>C	gnomAD
ERMP1	Q7Z2K6	p.Pro678Leu	rs148751977	missense variant	-	NC_000009.12:g.5801210G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro678Thr	rs1051566149	missense variant	-	NC_000009.12:g.5801211G>T	TOPMed
ERMP1	Q7Z2K6	p.Pro683Arg	rs769339810	missense variant	-	NC_000009.12:g.5801195G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val686Ala	rs776214299	missense variant	-	NC_000009.12:g.5801186A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe687Leu	rs770657550	missense variant	-	NC_000009.12:g.5801184A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu688Ile	rs367642040	missense variant	-	NC_000009.12:g.5801181G>T	ESP,TOPMed
ERMP1	Q7Z2K6	p.Gln689Ter	rs746689747	stop gained	-	NC_000009.12:g.5801178G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Met691Leu	rs1224048750	missense variant	-	NC_000009.12:g.5799005T>G	gnomAD
ERMP1	Q7Z2K6	p.Met691Thr	rs772562879	missense variant	-	NC_000009.12:g.5799004A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr694Ile	rs1050124214	missense variant	-	NC_000009.12:g.5798995G>A	gnomAD
ERMP1	Q7Z2K6	p.Phe695Leu	rs1237906448	missense variant	-	NC_000009.12:g.5798991G>T	gnomAD
ERMP1	Q7Z2K6	p.His696Arg	rs748397632	missense variant	-	NC_000009.12:g.5798989T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp697Glu	rs768998842	missense variant	-	NC_000009.12:g.5798985G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp697His	rs779349636	missense variant	-	NC_000009.12:g.5798987C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp697Val	rs1450989019	missense variant	-	NC_000009.12:g.5798986T>A	gnomAD
ERMP1	Q7Z2K6	p.Leu698Trp	rs1471209144	missense variant	-	NC_000009.12:g.5798983A>C	gnomAD
ERMP1	Q7Z2K6	p.Leu698Met	rs530504237	missense variant	-	NC_000009.12:g.5798984A>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu699Lys	rs370992190	missense variant	-	NC_000009.12:g.5798981C>T	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val703Leu	rs1365811625	missense variant	-	NC_000009.12:g.5798969C>G	gnomAD
ERMP1	Q7Z2K6	p.Arg705Gly	rs746484200	missense variant	-	NC_000009.12:g.5798963G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg705Gln	rs757511772	missense variant	-	NC_000009.12:g.5798962C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg705Trp	rs746484200	missense variant	-	NC_000009.12:g.5798963G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp706His	rs752383043	missense variant	-	NC_000009.12:g.5798960C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp706Ala	rs765110202	missense variant	-	NC_000009.12:g.5798959T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn712Ser	rs759359238	missense variant	-	NC_000009.12:g.5798941T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly713Glu	rs753862590	missense variant	-	NC_000009.12:g.5798938C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr717Ser	rs144298724	missense variant	-	NC_000009.12:g.5798926G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr717Ile	rs144298724	missense variant	-	NC_000009.12:g.5798926G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile719Met	rs1280994200	missense variant	-	NC_000009.12:g.5798919A>C	gnomAD
ERMP1	Q7Z2K6	p.Ser720Phe	rs772853391	missense variant	-	NC_000009.12:g.5798917G>A	ExAC
ERMP1	Q7Z2K6	p.Thr723Ser	rs1378096672	missense variant	-	NC_000009.12:g.5798908G>C	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr723Ile	rs1378096672	missense variant	-	NC_000009.12:g.5798908G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro724Ala	rs774542275	missense variant	-	NC_000009.12:g.5798906G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro724Ser	rs774542275	missense variant	-	NC_000009.12:g.5798906G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro724Leu	rs908005606	missense variant	-	NC_000009.12:g.5798905G>A	TOPMed
ERMP1	Q7Z2K6	p.His725Tyr	rs1455080367	missense variant	-	NC_000009.12:g.5798903G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile726Thr	rs749739959	missense variant	-	NC_000009.12:g.5798899A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu728Val	rs1432271087	missense variant	-	NC_000009.12:g.5798893T>A	TOPMed
ERMP1	Q7Z2K6	p.Asn730Ser	rs138024406	missense variant	-	NC_000009.12:g.5798887T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn730Lys	rs745885889	missense variant	-	NC_000009.12:g.5798886A>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser732Gly	rs952225751	missense variant	-	NC_000009.12:g.5798882T>C	gnomAD
ERMP1	Q7Z2K6	p.Ser732Arg	rs952225751	missense variant	-	NC_000009.12:g.5798882T>G	gnomAD
ERMP1	Q7Z2K6	p.Ile733Asn	rs1183928912	missense variant	-	NC_000009.12:g.5798878A>T	gnomAD
ERMP1	Q7Z2K6	p.Arg734Gln	rs777428417	missense variant	-	NC_000009.12:g.5798875C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg734Ter	rs1473639594	stop gained	-	NC_000009.12:g.5798876G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg734Pro	rs777428417	missense variant	-	NC_000009.12:g.5798875C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Glu738Gln	rs1247960695	missense variant	-	NC_000009.12:g.5798864C>G	TOPMed
ERMP1	Q7Z2K6	p.Glu738Asp	rs1447082030	missense variant	-	NC_000009.12:g.5798862C>A	gnomAD
ERMP1	Q7Z2K6	p.Glu739Lys	rs1463543992	missense variant	-	NC_000009.12:g.5798861C>T	TOPMed
ERMP1	Q7Z2K6	p.Glu739Asp	rs1185532626	missense variant	-	NC_000009.12:g.5798859C>G	TOPMed
ERMP1	Q7Z2K6	p.Ala741Val	rs1287467347	missense variant	-	NC_000009.12:g.5798854G>A	gnomAD
ERMP1	Q7Z2K6	p.Leu743Val	rs747293708	missense variant	-	NC_000009.12:g.5798849G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly745Cys	rs1292008210	missense variant	-	NC_000009.12:g.5798843C>A	gnomAD
ERMP1	Q7Z2K6	p.Gly745Ala	rs1248686010	missense variant	-	NC_000009.12:g.5798842C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Phe746Leu	rs1337837253	missense variant	-	NC_000009.12:g.5798840A>G	gnomAD
ERMP1	Q7Z2K6	p.Trp748Ser	rs1270199810	missense variant	-	NC_000009.12:g.5798833C>G	gnomAD
ERMP1	Q7Z2K6	p.His753Tyr	rs778548813	missense variant	-	NC_000009.12:g.5798819G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe754Leu	rs753822433	missense variant	-	NC_000009.12:g.5798814A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys758Arg	rs749034080	missense variant	-	NC_000009.12:g.5797930T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asn759Lys	rs1232699698	missense variant	-	NC_000009.12:g.5797926G>C	gnomAD
ERMP1	Q7Z2K6	p.Trp760Cys	rs146300402	missense variant	-	NC_000009.12:g.5797923C>G	ESP
ERMP1	Q7Z2K6	p.Tyr761Ser	rs1255212645	missense variant	-	NC_000009.12:g.5797921T>G	TOPMed
ERMP1	Q7Z2K6	p.Leu762Ile	rs780019177	missense variant	-	NC_000009.12:g.5797919G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro763Ser	rs756080682	missense variant	-	NC_000009.12:g.5797916G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala764Val	rs750429948	missense variant	-	NC_000009.12:g.5797912G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro765Leu	rs374916253	missense variant	-	NC_000009.12:g.5797909G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg770Lys	rs145639054	missense variant	-	NC_000009.12:g.5797894C>T	1000Genomes,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asn771Ser	rs201555586	missense variant	-	NC_000009.12:g.5797891T>C	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro772Leu	rs775790386	missense variant	-	NC_000009.12:g.5797888G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro773Arg	rs1173873666	missense variant	-	NC_000009.12:g.5797885G>C	TOPMed
ERMP1	Q7Z2K6	p.His774Arg	rs1334617928	missense variant	-	NC_000009.12:g.5797882T>C	gnomAD
ERMP1	Q7Z2K6	p.Phe775Cys	rs1469179934	missense variant	-	NC_000009.12:g.5797879A>C	gnomAD
ERMP1	Q7Z2K6	p.Phe775Leu	rs1413618366	missense variant	-	NC_000009.12:g.5797878G>C	TOPMed
ERMP1	Q7Z2K6	p.Arg776Gln	rs777251448	missense variant	-	NC_000009.12:g.5797876C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg776Leu	rs777251448	missense variant	-	NC_000009.12:g.5797876C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Arg776Ter	rs765626934	stop gained	-	NC_000009.12:g.5797877G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile778Thr	rs760741004	missense variant	-	NC_000009.12:g.5797870A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile778Val	rs1416759628	missense variant	-	NC_000009.12:g.5797871T>C	gnomAD
ERMP1	Q7Z2K6	p.Ile778Lys	rs760741004	missense variant	-	NC_000009.12:g.5797870A>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser779Cys	rs772288398	missense variant	-	NC_000009.12:g.5797867G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser779Ala	rs547444284	missense variant	-	NC_000009.12:g.5797868A>C	1000Genomes,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln782His	rs748414672	missense variant	-	NC_000009.12:g.5797857C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro784Leu	rs1258252882	missense variant	-	NC_000009.12:g.5797852G>A	gnomAD
ERMP1	Q7Z2K6	p.Pro784Thr	rs779965849	missense variant	-	NC_000009.12:g.5797853G>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile788Leu	rs142701582	missense variant	-	NC_000009.12:g.5797841T>G	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile788Met	rs745791309	missense variant	-	NC_000009.12:g.5797839T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr791Ile	rs757152177	missense variant	-	NC_000009.12:g.5797831G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr795Ile	rs751027218	missense variant	-	NC_000009.12:g.5797819G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr795Ser	rs140132784	missense variant	-	NC_000009.12:g.5797820T>A	1000Genomes
ERMP1	Q7Z2K6	p.His799Arg	rs1320816861	missense variant	-	NC_000009.12:g.5787584T>C	gnomAD
ERMP1	Q7Z2K6	p.Phe802Leu	rs762053505	missense variant	-	NC_000009.12:g.5787574G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Tyr803Cys	rs138113241	missense variant	-	NC_000009.12:g.5787572T>C	ESP,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg805Ter	rs774581636	stop gained	-	NC_000009.12:g.5787567G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg805Gln	rs185549934	missense variant	-	NC_000009.12:g.5787566C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Arg805Pro	rs185549934	missense variant	-	NC_000009.12:g.5787566C>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His807Pro	rs982099327	missense variant	-	NC_000009.12:g.5787560T>G	TOPMed
ERMP1	Q7Z2K6	p.His807Tyr	rs1333960756	missense variant	-	NC_000009.12:g.5787561G>A	gnomAD
ERMP1	Q7Z2K6	p.Lys808Arg	rs763112098	missense variant	-	NC_000009.12:g.5787557T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly809Arg	rs776452424	missense variant	-	NC_000009.12:g.5787555C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gly809Glu	rs770678871	missense variant	-	NC_000009.12:g.5787554C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser813Pro	rs1238500768	missense variant	-	NC_000009.12:g.5787543A>G	gnomAD
ERMP1	Q7Z2K6	p.Ser813Cys	rs1262456619	missense variant	-	NC_000009.12:g.5787542G>C	TOPMed
ERMP1	Q7Z2K6	p.Gln814Arg	rs1010970108	missense variant	-	NC_000009.12:g.5787539T>C	TOPMed
ERMP1	Q7Z2K6	p.Trp815Ter	rs747599955	stop gained	-	NC_000009.12:g.5787536C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asn819Ser	rs778417508	missense variant	-	NC_000009.12:g.5787524T>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr821Ser	rs963841784	missense variant	-	NC_000009.12:g.5787518G>C	TOPMed
ERMP1	Q7Z2K6	p.Pro822Ser	rs754585284	missense variant	-	NC_000009.12:g.5787516G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val823Leu	rs1032813687	missense variant	-	NC_000009.12:g.5787513C>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr824Ser	rs748935287	missense variant	-	NC_000009.12:g.5787510T>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr824Ile	rs1237802408	missense variant	-	NC_000009.12:g.5787509G>A	gnomAD
ERMP1	Q7Z2K6	p.Lys826Arg	rs780445945	missense variant	-	NC_000009.12:g.5787503T>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys826Asn	rs1311856770	missense variant	-	NC_000009.12:g.5787502T>G	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly828Val	rs1382759171	missense variant	-	NC_000009.12:g.5787497C>A	gnomAD
ERMP1	Q7Z2K6	p.Gly828Arg	rs1450869512	missense variant	-	NC_000009.12:g.5787498C>G	gnomAD
ERMP1	Q7Z2K6	p.Asp829His	rs756496609	missense variant	-	NC_000009.12:g.5787495C>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp829Glu	rs750938774	missense variant	-	NC_000009.12:g.5787493G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser835Pro	rs768074009	missense variant	-	NC_000009.12:g.5787477A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser835Cys	rs757856558	missense variant	-	NC_000009.12:g.5787476G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser835Phe	rs757856558	missense variant	-	NC_000009.12:g.5787476G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu838Arg	rs1297435649	missense variant	-	NC_000009.12:g.5787467A>C	gnomAD
ERMP1	Q7Z2K6	p.Gln839Leu	rs1442524051	missense variant	-	NC_000009.12:g.5787464T>A	gnomAD
ERMP1	Q7Z2K6	p.Ala840Val	rs1470334978	missense variant	-	NC_000009.12:g.5787461G>A	TOPMed
ERMP1	Q7Z2K6	p.Ala842Val	rs763208849	missense variant	-	NC_000009.12:g.5787455G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.TrpIleGlu846TrpIleGlyTerUnk	rs780092149	stop gained	-	NC_000009.12:g.5787443_5787444insTATCC	ExAC
ERMP1	Q7Z2K6	p.Trp846Cys	rs944363084	missense variant	-	NC_000009.12:g.5787442C>A	TOPMed
ERMP1	Q7Z2K6	p.Trp846Ter	rs202211189	stop gained	-	NC_000009.12:g.5787443C>T	gnomAD
ERMP1	Q7Z2K6	p.Ile847Leu	rs775630065	missense variant	-	NC_000009.12:g.5787441T>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile847Met	rs148237651	missense variant	-	NC_000009.12:g.5787439T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ile847Thr	rs781367038	missense variant	-	NC_000009.12:g.5787440A>G	TOPMed
ERMP1	Q7Z2K6	p.Val851Ala	rs1169863450	missense variant	-	NC_000009.12:g.5787307A>G	gnomAD
ERMP1	Q7Z2K6	p.Ser852Ala	rs768209570	missense variant	-	NC_000009.12:g.5787305A>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Glu853Asp	rs762306191	missense variant	-	NC_000009.12:g.5787300T>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.His855Tyr	rs143084337	missense variant	-	NC_000009.12:g.5787296G>A	ESP,ExAC
ERMP1	Q7Z2K6	p.Gly858Arg	rs769285252	missense variant	-	NC_000009.12:g.5787287C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr861Asn	rs1246894788	missense variant	-	NC_000009.12:g.5787277G>T	gnomAD
ERMP1	Q7Z2K6	p.Val862Leu	rs551188786	missense variant	-	NC_000009.12:g.5787275C>G	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val862Met	rs551188786	missense variant	-	NC_000009.12:g.5787275C>T	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala863Thr	rs1258054624	missense variant	-	NC_000009.12:g.5787272C>T	gnomAD
ERMP1	Q7Z2K6	p.Ala863Gly	rs778072786	missense variant	-	NC_000009.12:g.5787271G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ile864Thr	rs758955887	missense variant	-	NC_000009.12:g.5787268A>G	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ala866Val	rs919353141	missense variant	-	NC_000009.12:g.5787262G>A	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr868Phe	rs371806673	missense variant	-	NC_000009.12:g.5787256T>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr868Ser	rs371806673	missense variant	-	NC_000009.12:g.5787256T>G	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Tyr868Cys	rs371806673	missense variant	-	NC_000009.12:g.5787256T>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser870Cys	rs369191414	missense variant	-	NC_000009.12:g.5787250G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser870Pro	rs1438424023	missense variant	-	NC_000009.12:g.5787251A>G	gnomAD
ERMP1	Q7Z2K6	p.Gly871Arg	rs1271715392	missense variant	-	NC_000009.12:g.5787248C>G	TOPMed
ERMP1	Q7Z2K6	p.Gly871Val	rs761665438	missense variant	-	NC_000009.12:g.5787247C>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gly871Glu	rs761665438	missense variant	-	NC_000009.12:g.5787247C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Asp873Asn	rs200810811	missense variant	-	NC_000009.12:g.5787242C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys874Asn	rs763882864	missense variant	-	NC_000009.12:g.5787237C>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Lys874Glu	rs1173683019	missense variant	-	NC_000009.12:g.5787239T>C	gnomAD
ERMP1	Q7Z2K6	p.Arg875Thr	rs1280887382	missense variant	-	NC_000009.12:g.5787235C>G	gnomAD
ERMP1	Q7Z2K6	p.Ser876Phe	rs368422058	missense variant	-	NC_000009.12:g.5787232G>A	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser876Cys	rs368422058	missense variant	-	NC_000009.12:g.5787232G>C	ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Pro877His	rs1468927854	missense variant	-	NC_000009.12:g.5787229G>T	TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Gln878Pro	rs774826469	missense variant	-	NC_000009.12:g.5787226T>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Gln878Ter	rs1461321776	stop gained	-	NC_000009.12:g.5787227G>A	TOPMed
ERMP1	Q7Z2K6	p.Asp880His	rs759247426	missense variant	-	NC_000009.12:g.5787221C>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp880Gly	rs1261783479	missense variant	-	NC_000009.12:g.5787220T>C	gnomAD
ERMP1	Q7Z2K6	p.Asp880Asn	rs759247426	missense variant	-	NC_000009.12:g.5787221C>T	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ala881Val	rs776490244	missense variant	-	NC_000009.12:g.5787217G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Leu882Val	rs770710463	missense variant	-	NC_000009.12:g.5787215G>C	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Lys885Glu	rs1280999948	missense variant	-	NC_000009.12:g.5787206T>C	gnomAD
ERMP1	Q7Z2K6	p.Pro887Gln	rs1035894014	missense variant	-	NC_000009.12:g.5787199G>T	TOPMed
ERMP1	Q7Z2K6	p.Thr890Ile	rs778220532	missense variant	-	NC_000009.12:g.5787190G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Phe891Leu	rs772417997	missense variant	-	NC_000009.12:g.5787188A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Pro892Ser	rs748729945	missense variant	-	NC_000009.12:g.5787185G>A	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ser893Cys	rs146929158	missense variant	-	NC_000009.12:g.5787181G>C	ESP,ExAC,gnomAD
ERMP1	Q7Z2K6	p.Ser893Pro	rs755109522	missense variant	-	NC_000009.12:g.5787182A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr898Ile	rs758241482	missense variant	-	NC_000009.12:g.5787166G>A	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Thr898Ala	rs148691186	missense variant	-	NC_000009.12:g.5787167T>C	1000Genomes,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Thr898Ser	rs758241482	missense variant	-	NC_000009.12:g.5787166G>C	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Asp900Asn	rs759046818	missense variant	-	NC_000009.12:g.5787161C>T	ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Leu901Ile	rs1331977798	missense variant	-	NC_000009.12:g.5787158G>T	gnomAD
ERMP1	Q7Z2K6	p.Phe902Ser	rs776293176	missense variant	-	NC_000009.12:g.5787154A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val903Ala	rs773417186	missense variant	-	NC_000009.12:g.5787151A>G	ExAC,gnomAD
ERMP1	Q7Z2K6	p.Val903Leu	rs200756546	missense variant	-	NC_000009.12:g.5787152C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Val903Ile	rs200756546	missense variant	-	NC_000009.12:g.5787152C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ERMP1	Q7Z2K6	p.Ter905Lys	rs369820037	stop lost	-	NC_000009.12:g.5787146A>T	ESP,TOPMed
TIPARP	Q7Z3E1	p.Glu2Lys	rs1469957050	missense variant	-	NC_000003.12:g.156677701G>A	gnomAD
TIPARP	Q7Z3E1	p.Met3Val	rs1156974645	missense variant	-	NC_000003.12:g.156677704A>G	gnomAD
TIPARP	Q7Z3E1	p.Met3Ile	rs868515771	missense variant	-	NC_000003.12:g.156677706G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr5Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156677711C>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Thr6Ile	rs781581358	missense variant	-	NC_000003.12:g.156677714C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr6Ala	rs1401304502	missense variant	-	NC_000003.12:g.156677713A>G	gnomAD
TIPARP	Q7Z3E1	p.Glu7Lys	rs770701311	missense variant	-	NC_000003.12:g.156677716G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro8Thr	rs778899104	missense variant	-	NC_000003.12:g.156677719C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu9Gln	rs546558483	missense variant	-	NC_000003.12:g.156677722G>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro10Leu	rs771541243	missense variant	-	NC_000003.12:g.156677726C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp11Glu	rs760946108	missense variant	-	NC_000003.12:g.156677730C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp11His	rs774941696	missense variant	-	NC_000003.12:g.156677728G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val13Ile	rs1232121372	missense variant	-	NC_000003.12:g.156677734G>A	gnomAD
TIPARP	Q7Z3E1	p.Val14Leu	rs776153131	missense variant	-	NC_000003.12:g.156677737G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val14Met	rs776153131	missense variant	-	NC_000003.12:g.156677737G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro19Ser	rs762231689	missense variant	-	NC_000003.12:g.156677752C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp21Gly	rs765576832	missense variant	-	NC_000003.12:g.156677759A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu31Gln	rs140846531	missense variant	-	NC_000003.12:g.156677788G>C	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu31Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156677789A>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Ile33Thr	rs1196989993	missense variant	-	NC_000003.12:g.156677795T>C	TOPMed
TIPARP	Q7Z3E1	p.Ile33Val	rs755118316	missense variant	-	NC_000003.12:g.156677794A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro35Gln	rs1165514996	missense variant	-	NC_000003.12:g.156677801C>A	gnomAD
TIPARP	Q7Z3E1	p.Pro35Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156677801C>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Pro35Ser	COSM4457315	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156677800C>T	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Leu36Phe	rs767777633	missense variant	-	NC_000003.12:g.156677805G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Cys39Arg	rs1490831364	missense variant	-	NC_000003.12:g.156677812T>C	TOPMed
TIPARP	Q7Z3E1	p.Cys39Tyr	rs1330694297	missense variant	-	NC_000003.12:g.156677813G>A	gnomAD
TIPARP	Q7Z3E1	p.Phe40Ser	rs369539588	missense variant	-	NC_000003.12:g.156677816T>C	ESP,TOPMed
TIPARP	Q7Z3E1	p.Lys42Glu	rs200349044	missense variant	-	NC_000003.12:g.156677821A>G	1000Genomes
TIPARP	Q7Z3E1	p.Lys42Arg	rs144427222	missense variant	-	NC_000003.12:g.156677822A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys43Arg	rs1413853265	missense variant	-	NC_000003.12:g.156677825A>G	gnomAD
TIPARP	Q7Z3E1	p.Lys43Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156677826G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Asp44Val	rs757054333	missense variant	-	NC_000003.12:g.156677828A>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp44Glu	rs778614554	missense variant	-	NC_000003.12:g.156677829T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp44Tyr	rs1314626498	missense variant	-	NC_000003.12:g.156677827G>T	TOPMed
TIPARP	Q7Z3E1	p.Arg47Lys	COSM4114795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156677837G>A	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Thr52Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156677851A>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Leu53Val	rs1281827005	missense variant	-	NC_000003.12:g.156677854C>G	TOPMed
TIPARP	Q7Z3E1	p.Leu60Ile	rs1346761723	missense variant	-	NC_000003.12:g.156677875T>A	TOPMed
TIPARP	Q7Z3E1	p.Asn61Ser	rs1194403954	missense variant	-	NC_000003.12:g.156677879A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr62Ser	rs758283343	missense variant	-	NC_000003.12:g.156677882C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu64Ile	rs1255712431	missense variant	-	NC_000003.12:g.156677887C>A	gnomAD
TIPARP	Q7Z3E1	p.Leu69Pro	rs1331911830	missense variant	-	NC_000003.12:g.156677903T>C	gnomAD
TIPARP	Q7Z3E1	p.Leu69Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156677903T>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Asp70Gly	rs776332548	missense variant	-	NC_000003.12:g.156677906A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val72Ala	rs373659607	missense variant	-	NC_000003.12:g.156677912T>C	ESP
TIPARP	Q7Z3E1	p.Ser75Tyr	rs1367037499	missense variant	-	NC_000003.12:g.156677921C>A	gnomAD
TIPARP	Q7Z3E1	p.Ser75Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156677921C>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Gln78Arg	rs547183561	missense variant	-	NC_000003.12:g.156677930A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser79Thr	rs1414170718	missense variant	-	NC_000003.12:g.156677933G>C	TOPMed
TIPARP	Q7Z3E1	p.Thr80Ala	rs1433869787	missense variant	-	NC_000003.12:g.156677935A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp81Tyr	rs1427423976	missense variant	-	NC_000003.12:g.156677938G>T	TOPMed
TIPARP	Q7Z3E1	p.Glu82Asp	rs763428665	missense variant	-	NC_000003.12:g.156677943G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu82Lys	COSM1484785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156677941G>A	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Ser84Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156677947A>T	NCI-TCGA
TIPARP	Q7Z3E1	p.His86Arg	rs1356995828	missense variant	-	NC_000003.12:g.156677954A>G	gnomAD
TIPARP	Q7Z3E1	p.Pro88Ser	rs766929028	missense variant	-	NC_000003.12:g.156677959C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro88Thr	rs766929028	missense variant	-	NC_000003.12:g.156677959C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met89Arg	rs1185862685	missense variant	-	NC_000003.12:g.156677963T>G	TOPMed
TIPARP	Q7Z3E1	p.Met89Val	rs568594097	missense variant	-	NC_000003.12:g.156677962A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met94Arg	rs1225949830	missense variant	-	NC_000003.12:g.156677978T>G	gnomAD
TIPARP	Q7Z3E1	p.Glu95Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156677980G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Ile96Val	rs767546856	missense variant	-	NC_000003.12:g.156677983A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn97His	rs1296705490	missense variant	-	NC_000003.12:g.156677986A>C	gnomAD
TIPARP	Q7Z3E1	p.Ser99Ter	COSM729509	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.156677993C>G	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Pro101Thr	rs1210646750	missense variant	-	NC_000003.12:g.156677998C>A	gnomAD
TIPARP	Q7Z3E1	p.Asn105Thr	rs750161818	missense variant	-	NC_000003.12:g.156678011A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn106Ser	rs758193176	missense variant	-	NC_000003.12:g.156678014A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met107Val	rs761597601	missense variant	-	NC_000003.12:g.156678016A>G	gnomAD
TIPARP	Q7Z3E1	p.Met107Thr	rs747004966	missense variant	-	NC_000003.12:g.156678017T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile111Leu	rs1324727307	missense variant	-	NC_000003.12:g.156678028A>C	TOPMed
TIPARP	Q7Z3E1	p.Pro112Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678031C>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Asp113Asn	rs377432950	missense variant	-	NC_000003.12:g.156678034G>A	ESP,TOPMed
TIPARP	Q7Z3E1	p.Arg114Gly	rs1171574601	missense variant	-	NC_000003.12:g.156678037A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr115Arg	rs1270890303	missense variant	-	NC_000003.12:g.156678041C>G	TOPMed
TIPARP	Q7Z3E1	p.Thr115Ser	rs1364672501	missense variant	-	NC_000003.12:g.156678040A>T	TOPMed
TIPARP	Q7Z3E1	p.Asn116Ser	rs1466292816	missense variant	-	NC_000003.12:g.156678044A>G	gnomAD
TIPARP	Q7Z3E1	p.Asn116Asp	rs780604647	missense variant	-	NC_000003.12:g.156678043A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val117Ala	rs868513491	missense variant	-	NC_000003.12:g.156678047T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly118Glu	rs1338961044	missense variant	-	NC_000003.12:g.156678050G>A	TOPMed
TIPARP	Q7Z3E1	p.Gly118Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678049G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Asp119Asn	rs747722067	missense variant	-	NC_000003.12:g.156678052G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp119Gly	rs1298308351	missense variant	-	NC_000003.12:g.156678053A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp119Val	rs1298308351	missense variant	-	NC_000003.12:g.156678053A>T	gnomAD
TIPARP	Q7Z3E1	p.Ile121Met	rs1233983933	missense variant	-	NC_000003.12:g.156678060A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile121Thr	rs201782670	missense variant	-	NC_000003.12:g.156678059T>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile121Lys	rs201782670	missense variant	-	NC_000003.12:g.156678059T>A	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro122Leu	rs772928271	missense variant	-	NC_000003.12:g.156678062C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro122Thr	rs1301783177	missense variant	-	NC_000003.12:g.156678061C>A	gnomAD
TIPARP	Q7Z3E1	p.Glu123Lys	rs1260370769	missense variant	-	NC_000003.12:g.156678064G>A	gnomAD
TIPARP	Q7Z3E1	p.His125Arg	rs1248543218	missense variant	-	NC_000003.12:g.156678071A>G	gnomAD
TIPARP	Q7Z3E1	p.His125Asp	rs774980008	missense variant	-	NC_000003.12:g.156678070C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro126Ser	rs757036019	missense variant	-	NC_000003.12:g.156678073C>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser127Pro	rs1191510420	missense variant	-	NC_000003.12:g.156678076T>C	gnomAD
TIPARP	Q7Z3E1	p.Glu132Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678091G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Arg133Ter	rs569197742	stop gained	-	NC_000003.12:g.156678094C>T	1000Genomes,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Leu	rs147956353	missense variant	-	NC_000003.12:g.156678095G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Gly	rs569197742	missense variant	-	NC_000003.12:g.156678094C>G	1000Genomes,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Gln	rs147956353	missense variant	-	NC_000003.12:g.156678095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val135Ile	rs1361728193	missense variant	-	NC_000003.12:g.156678100G>A	gnomAD
TIPARP	Q7Z3E1	p.Pro136Gln	rs140235972	missense variant	-	NC_000003.12:g.156678104C>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro136Ser	rs558453273	missense variant	-	NC_000003.12:g.156678103C>T	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro136Arg	rs140235972	missense variant	-	NC_000003.12:g.156678104C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln138Arg	rs1461451634	missense variant	-	NC_000003.12:g.156678110A>G	TOPMed
TIPARP	Q7Z3E1	p.Asp139Val	rs1251155796	missense variant	-	NC_000003.12:g.156678113A>T	TOPMed
TIPARP	Q7Z3E1	p.His140Asp	rs1188346646	missense variant	-	NC_000003.12:g.156678115C>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Arg	rs1056511062	missense variant	-	NC_000003.12:g.156678116A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Asn	rs1188346646	missense variant	-	NC_000003.12:g.156678115C>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Pro	rs1056511062	missense variant	-	NC_000003.12:g.156678116A>C	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Gln	rs570398140	missense variant	-	NC_000003.12:g.156678117C>A	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe142Ser	rs754124618	missense variant	-	NC_000003.12:g.156678122T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro143Ala	rs762723611	missense variant	-	NC_000003.12:g.156678124C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser144Pro	rs766210307	missense variant	-	NC_000003.12:g.156678127T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu145Gly	rs1435480214	missense variant	-	NC_000003.12:g.156678131A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr146Ile	rs1306496410	missense variant	-	NC_000003.12:g.156678134C>T	gnomAD
TIPARP	Q7Z3E1	p.Leu147His	rs752087020	missense variant	-	NC_000003.12:g.156678137T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu147Phe	rs371094017	missense variant	-	NC_000003.12:g.156678136C>T	ESP,ExAC,TOPMed
TIPARP	Q7Z3E1	p.Leu147ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.156678133_156678134insC	NCI-TCGA
TIPARP	Q7Z3E1	p.Ser148Arg	rs1268917045	missense variant	-	NC_000003.12:g.156678141T>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser148Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678140G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Gly149Glu	rs1297430382	missense variant	-	NC_000003.12:g.156678143G>A	TOPMed
TIPARP	Q7Z3E1	p.Thr150Met	rs755720358	missense variant	-	NC_000003.12:g.156678146C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ala152Ser	rs534523851	missense variant	-	NC_000003.12:g.156678151G>T	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser154Cys	rs375315846	missense variant	-	NC_000003.12:g.156678158C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr155Ala	rs779381790	missense variant	-	NC_000003.12:g.156678160A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro156Leu	rs746258116	missense variant	-	NC_000003.12:g.156678164C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His158Arg	rs772403493	missense variant	-	NC_000003.12:g.156678170A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe159Ser	rs1459421210	missense variant	-	NC_000003.12:g.156678173T>C	gnomAD
TIPARP	Q7Z3E1	p.Phe159Leu	rs200200707	missense variant	-	NC_000003.12:g.156678174C>G	TOPMed
TIPARP	Q7Z3E1	p.Gln160Ter	COSM3589313	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.156678175C>T	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Thr161Ser	rs994568863	missense variant	-	NC_000003.12:g.156678179C>G	TOPMed
TIPARP	Q7Z3E1	p.Leu163Val	rs776070977	missense variant	-	NC_000003.12:g.156678184C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu163Ile	rs776070977	missense variant	-	NC_000003.12:g.156678184C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu164Ser	rs1222441797	missense variant	-	NC_000003.12:g.156678188T>C	TOPMed
TIPARP	Q7Z3E1	p.Val167Phe	rs1371447209	missense variant	-	NC_000003.12:g.156678196G>T	gnomAD
TIPARP	Q7Z3E1	p.Ser168Leu	rs776811846	missense variant	-	NC_000003.12:g.156678200C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp170Val	rs765471373	missense variant	-	NC_000003.12:g.156678206A>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro175Leu	rs751301965	missense variant	-	NC_000003.12:g.156678221C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu178Val	rs759385620	missense variant	-	NC_000003.12:g.156678229T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp179Gly	rs767287641	missense variant	-	NC_000003.12:g.156678233A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys180Arg	rs372015234	missense variant	-	NC_000003.12:g.156678236A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys180Thr	rs372015234	missense variant	-	NC_000003.12:g.156678236A>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val181Ile	rs755559962	missense variant	-	NC_000003.12:g.156678238G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile182Val	rs140976569	missense variant	-	NC_000003.12:g.156678241A>G	ESP
TIPARP	Q7Z3E1	p.Tyr184Cys	rs1182371185	missense variant	-	NC_000003.12:g.156678248A>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr184Asp	rs777469638	missense variant	-	NC_000003.12:g.156678247T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro186Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678253C>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Pro186Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678254C>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Glu191Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.156678268G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Asn192LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.156678273C>-	NCI-TCGA
TIPARP	Q7Z3E1	p.Asn192ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.156678269A>-	NCI-TCGA
TIPARP	Q7Z3E1	p.Ser193Gly	rs1473913455	missense variant	-	NC_000003.12:g.156678274A>G	gnomAD
TIPARP	Q7Z3E1	p.Phe194Ser	rs1189500859	missense variant	-	NC_000003.12:g.156678278T>C	gnomAD
TIPARP	Q7Z3E1	p.Ile196Val	rs150223955	missense variant	-	NC_000003.12:g.156678283A>G	ESP,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln197Arg	rs1170168644	missense variant	-	NC_000003.12:g.156678287A>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr198His	rs1165006151	missense variant	-	NC_000003.12:g.156678289T>C	TOPMed
TIPARP	Q7Z3E1	p.Tyr198Cys	rs746154012	missense variant	-	NC_000003.12:g.156678290A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile199Thr	rs1308823808	missense variant	-	NC_000003.12:g.156678293T>C	gnomAD
TIPARP	Q7Z3E1	p.Leu200Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678295C>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Asp201His	rs772553375	missense variant	-	NC_000003.12:g.156678298G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr202Pro	rs747599850	missense variant	-	NC_000003.12:g.156678301A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr202Ala	rs747599850	missense variant	-	NC_000003.12:g.156678301A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser203Thr	rs768586185	missense variant	-	NC_000003.12:g.156678305G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu210Val	rs1293361007	missense variant	-	NC_000003.12:g.156678325C>G	gnomAD
TIPARP	Q7Z3E1	p.Gln212Leu	rs1343992691	missense variant	-	NC_000003.12:g.156678332A>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln212Arg	rs1343992691	missense variant	-	NC_000003.12:g.156678332A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp213Asn	rs201843889	missense variant	-	NC_000003.12:g.156678334G>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu217Asp	rs1279139901	missense variant	-	NC_000003.12:g.156678348G>C	gnomAD
TIPARP	Q7Z3E1	p.Ala218Ser	rs1484506901	missense variant	-	NC_000003.12:g.156678349G>T	gnomAD
TIPARP	Q7Z3E1	p.Leu222Phe	rs773424243	missense variant	-	NC_000003.12:g.156678361C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val223Met	rs759242586	missense variant	-	NC_000003.12:g.156678364G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val223Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678364G>C	NCI-TCGA
TIPARP	Q7Z3E1	p.Glu225Gln	rs758347957	missense variant	-	NC_000003.12:g.156678370G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr234Pro	COSM4114796	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156678397A>C	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.His235Arg	rs983254095	missense variant	-	NC_000003.12:g.156678401A>G	TOPMed
TIPARP	Q7Z3E1	p.Glu237Ala	rs1336416903	missense variant	-	NC_000003.12:g.156678407A>C	gnomAD
TIPARP	Q7Z3E1	p.Asn238Asp	rs140486151	missense variant	-	NC_000003.12:g.156678409A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly239Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678413G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Ile242Met	COSM264041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156678423T>G	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Cys243Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678425G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Met244Val	rs1430147291	missense variant	-	NC_000003.12:g.156678427A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met244Thr	rs1317726110	missense variant	-	NC_000003.12:g.156678428T>C	TOPMed
TIPARP	Q7Z3E1	p.Gln248Arg	rs753340986	missense variant	-	NC_000003.12:g.156678440A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gly249Asp	rs756834863	missense variant	-	NC_000003.12:g.156678443G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr250Ile	rs764978014	missense variant	-	NC_000003.12:g.156678446C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr250Ser	rs764978014	missense variant	-	NC_000003.12:g.156678446C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile252Met	rs201976652	missense variant	-	NC_000003.12:g.156678453T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg255Gly	rs758666395	missense variant	-	NC_000003.12:g.156678460A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg255Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678461G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Asp256Tyr	rs779765422	missense variant	-	NC_000003.12:g.156678463G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp256Gly	rs747363738	missense variant	-	NC_000003.12:g.156678464A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp256Glu	rs1466691731	missense variant	-	NC_000003.12:g.156678465T>G	gnomAD
TIPARP	Q7Z3E1	p.Cys257LysThrValPhe	NCI-TCGA novel	insertion	-	NC_000003.12:g.156678468_156678469insAAAACTGTTTTC	NCI-TCGA
TIPARP	Q7Z3E1	p.Leu258Phe	rs1189598175	missense variant	-	NC_000003.12:g.156678471G>T	gnomAD
TIPARP	Q7Z3E1	p.Lys259Arg	rs1286559879	missense variant	-	NC_000003.12:g.156678473A>G	TOPMed
TIPARP	Q7Z3E1	p.Ile270Met	rs781670937	missense variant	-	NC_000003.12:g.156678507C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Lys271Gln	rs1426168303	missense variant	-	NC_000003.12:g.156678508A>C	gnomAD
TIPARP	Q7Z3E1	p.Arg272Ser	rs746495291	missense variant	-	NC_000003.12:g.156678513G>C	TOPMed
TIPARP	Q7Z3E1	p.Arg272Gly	rs748156388	missense variant	-	NC_000003.12:g.156678511A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg272LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.156678507_156678508insA	NCI-TCGA
TIPARP	Q7Z3E1	p.Thr273Ser	rs1489734415	missense variant	-	NC_000003.12:g.156678514A>T	gnomAD
TIPARP	Q7Z3E1	p.Thr273Ile	rs1479652371	missense variant	-	NC_000003.12:g.156678515C>T	TOPMed
TIPARP	Q7Z3E1	p.Thr275LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.156678520A>-	NCI-TCGA
TIPARP	Q7Z3E1	p.Trp278Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678529T>C	NCI-TCGA
TIPARP	Q7Z3E1	p.Ser280Asn	rs1438383637	missense variant	-	NC_000003.12:g.156678536G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe282Val	rs1428394274	missense variant	-	NC_000003.12:g.156678541T>G	TOPMed
TIPARP	Q7Z3E1	p.Asn283Ile	rs145662613	missense variant	-	NC_000003.12:g.156678545A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn283Ser	rs145662613	missense variant	-	NC_000003.12:g.156678545A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp284Tyr	COSM1040373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156678547G>T	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Ser285Phe	rs947722121	missense variant	-	NC_000003.12:g.156678551C>T	gnomAD
TIPARP	Q7Z3E1	p.His288Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678561C>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Glu290Lys	COSM264042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156678565G>A	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Cys294Gly	rs775306797	missense variant	-	NC_000003.12:g.156678577T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn295Asp	rs138118991	missense variant	-	NC_000003.12:g.156678580A>G	1000Genomes,ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn295Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678581A>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Asp299Gly	rs149538633	missense variant	-	NC_000003.12:g.156678593A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met303Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156678604A>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Lys304Asn	rs776778193	missense variant	-	NC_000003.12:g.156678609G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr305Cys	rs35768405	missense variant	-	NC_000003.12:g.156678611A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr305Ser	rs35768405	missense variant	-	NC_000003.12:g.156678611A>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly307Glu	rs1390490421	missense variant	-	NC_000003.12:g.156694022G>A	gnomAD
TIPARP	Q7Z3E1	p.Gly307Glu	rs1390490421	missense variant	-	NC_000003.12:g.156694022G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Glu309Ala	rs1240885572	missense variant	-	NC_000003.12:g.156694028A>C	TOPMed
TIPARP	Q7Z3E1	p.Glu309Ter	COSM3427267	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.156694027G>T	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Asp313Glu	rs1173472969	missense variant	-	NC_000003.12:g.156694041T>G	gnomAD
TIPARP	Q7Z3E1	p.Ala316Val	rs1379031614	missense variant	-	NC_000003.12:g.156694049C>T	gnomAD
TIPARP	Q7Z3E1	p.Met317Leu	rs1466086841	missense variant	-	NC_000003.12:g.156694051A>C	gnomAD
TIPARP	Q7Z3E1	p.Val319Met	rs768539321	missense variant	-	NC_000003.12:g.156694057G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val319Leu	rs768539321	missense variant	-	NC_000003.12:g.156694057G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Tyr320Cys	rs769711462	missense variant	-	NC_000003.12:g.156694061A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu321Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156694065A>C	NCI-TCGA
TIPARP	Q7Z3E1	p.Thr323Asn	rs773024103	missense variant	-	NC_000003.12:g.156694070C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu324Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.156694072G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Gln327Lys	rs762517684	missense variant	-	NC_000003.12:g.156694081C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln327His	rs770403066	missense variant	-	NC_000003.12:g.156694083A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln327Glu	rs762517684	missense variant	-	NC_000003.12:g.156694081C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg329Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156694088G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Ser332Cys	rs1210445105	missense variant	-	NC_000003.12:g.156694097C>G	gnomAD
TIPARP	Q7Z3E1	p.Ser336Phe	rs761032073	missense variant	-	NC_000003.12:g.156694109C>T	ExAC
TIPARP	Q7Z3E1	p.Ser336Ala	rs1467830652	missense variant	-	NC_000003.12:g.156694108T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser337Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156694113C>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Asn338Ser	rs148252230	missense variant	-	NC_000003.12:g.156694115A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn338Ser	rs148252230	missense variant	-	NC_000003.12:g.156694115A>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Asn340Ser	rs1036522422	missense variant	-	NC_000003.12:g.156694121A>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Asn340Ser	rs1036522422	missense variant	-	NC_000003.12:g.156694121A>G	-
TIPARP	Q7Z3E1	p.Ser341Cys	rs1409042958	missense variant	-	NC_000003.12:g.156694124C>G	gnomAD
TIPARP	Q7Z3E1	p.Ile342Val	rs200857296	missense variant	-	NC_000003.12:g.156694126A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile342ThrPheSerTerUnkUnk	COSM1420232	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.156694125_156694128TATT>-	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Val346Leu	rs200119519	missense variant	-	NC_000003.12:g.156694138G>C	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val346Ile	COSM3783672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156694138G>A	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Lys348Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156694145A>C	NCI-TCGA
TIPARP	Q7Z3E1	p.Phe349Cys	rs1457691071	missense variant	-	NC_000003.12:g.156694148T>G	gnomAD
TIPARP	Q7Z3E1	p.His354Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156694162C>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Arg358Thr	rs750560844	missense variant	-	NC_000003.12:g.156694175G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu359Ala	rs1425278368	missense variant	-	NC_000003.12:g.156694178A>C	gnomAD
TIPARP	Q7Z3E1	p.Glu359Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156694179G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Pro361Ala	rs141280180	missense variant	-	NC_000003.12:g.156694183C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro361Arg	rs1387504652	missense variant	-	NC_000003.12:g.156694184C>G	gnomAD
TIPARP	Q7Z3E1	p.Pro361Ser	rs141280180	missense variant	-	NC_000003.12:g.156694183C>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu362Lys	rs150739414	missense variant	-	NC_000003.12:g.156694186G>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu362Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156694188G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Ile365Val	rs139609776	missense variant	-	NC_000003.12:g.156695871A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg366Gln	rs745377501	missense variant	-	NC_000003.12:g.156695875G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Arg366Gln	rs745377501	missense variant	-	NC_000003.12:g.156695875G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg366Gly	rs778830481	missense variant	-	NC_000003.12:g.156695874C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg366Leu	rs745377501	missense variant	-	NC_000003.12:g.156695875G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu369Ter	rs1331757567	stop gained	-	NC_000003.12:g.156695883G>T	TOPMed
TIPARP	Q7Z3E1	p.Glu369Ala	rs1390721044	missense variant	-	NC_000003.12:g.156695884A>C	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu370Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.156695886G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Glu370Asp	COSM4114798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156695888A>C	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Ala371Thr	rs1168397565	missense variant	-	NC_000003.12:g.156695889G>A	gnomAD
TIPARP	Q7Z3E1	p.Asn372Ser	rs143409745	missense variant	-	NC_000003.12:g.156695893A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn372His	rs746682952	missense variant	-	NC_000003.12:g.156695892A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn372Thr	rs143409745	missense variant	-	NC_000003.12:g.156695893A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser373Pro	rs762251916	missense variant	-	NC_000003.12:g.156695895T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser373Phe	rs1358581953	missense variant	-	NC_000003.12:g.156695896C>T	gnomAD
TIPARP	Q7Z3E1	p.Arg374Gln	rs773919171	missense variant	-	NC_000003.12:g.156695899G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg374Trp	rs201159091	missense variant	-	NC_000003.12:g.156695898C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly375Cys	rs1379855861	missense variant	-	NC_000003.12:g.156695901G>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu376Pro	rs763107741	missense variant	-	NC_000003.12:g.156695905T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu378Ala	rs766612770	missense variant	-	NC_000003.12:g.156695911A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg380Gln	rs1302605426	missense variant	-	NC_000003.12:g.156695917G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg380Ter	COSM4733817	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.156695916C>T	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Phe381Ser	rs147143306	missense variant	-	NC_000003.12:g.156695920T>C	ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met383Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156695927G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Trp384Cys	rs552678860	missense variant	-	NC_000003.12:g.156695930G>T	gnomAD
TIPARP	Q7Z3E1	p.Asn385Asp	rs1380989916	missense variant	-	NC_000003.12:g.156695931A>G	gnomAD
TIPARP	Q7Z3E1	p.Asn386Lys	rs1309888637	missense variant	-	NC_000003.12:g.156695936C>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr388Cys	rs1239696007	missense variant	-	NC_000003.12:g.156695941A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile389Val	rs767797746	missense variant	-	NC_000003.12:g.156695943A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu390Arg	rs1437753614	missense variant	-	NC_000003.12:g.156695947T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His391Arg	rs753513614	missense variant	-	NC_000003.12:g.156695950A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn392Ser	rs757147574	missense variant	-	NC_000003.12:g.156695953A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg396Gly	rs757874481	missense variant	-	NC_000003.12:g.156695964A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg397Ser	rs779496951	missense variant	-	NC_000003.12:g.156695969A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg397Gly	rs1221148557	missense variant	-	NC_000003.12:g.156695967A>G	TOPMed
TIPARP	Q7Z3E1	p.Glu398Asp	rs746549290	missense variant	-	NC_000003.12:g.156695972G>C	NCI-TCGA
TIPARP	Q7Z3E1	p.Glu398Asp	rs746549290	missense variant	-	NC_000003.12:g.156695972G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile399Thr	rs768134379	missense variant	-	NC_000003.12:g.156695974T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile399Arg	rs768134379	missense variant	-	NC_000003.12:g.156695974T>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile399Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156695973A>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Arg402Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.156695982A>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Pro403Ser	rs1362884365	missense variant	-	NC_000003.12:g.156695985C>T	TOPMed
TIPARP	Q7Z3E1	p.Phe405Leu	rs770336627	missense variant	-	NC_000003.12:g.156695993C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406Leu	rs771589802	missense variant	-	NC_000003.12:g.156695995G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg406His	rs771589802	missense variant	-	NC_000003.12:g.156695995G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg406Ser	rs17854621	missense variant	-	NC_000003.12:g.156695994C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406Ser	rs17854621	missense variant	-	NC_000003.12:g.156695994C>A	UniProt,dbSNP
TIPARP	Q7Z3E1	p.Arg406Ser	VAR_027155	missense variant	-	NC_000003.12:g.156695994C>A	UniProt
TIPARP	Q7Z3E1	p.Arg406Cys	rs17854621	missense variant	-	NC_000003.12:g.156695994C>T	NCI-TCGA,NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Arg406Cys	rs17854621	missense variant	-	NC_000003.12:g.156695994C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406His	rs771589802	missense variant	-	NC_000003.12:g.156695995G>A	NCI-TCGA,NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Phe409Ile	rs1435577851	missense variant	-	NC_000003.12:g.156696003T>A	gnomAD
TIPARP	Q7Z3E1	p.Phe409Tyr	rs774240678	missense variant	-	NC_000003.12:g.156696004T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu412Phe	rs140142843	missense variant	-	NC_000003.12:g.156696012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu412His	rs1278786503	missense variant	-	NC_000003.12:g.156696013T>A	gnomAD
TIPARP	Q7Z3E1	p.Leu418Phe	rs1137515	missense variant	-	NC_000003.12:g.156703428C>T	NCI-TCGA,NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Val421Phe	rs1162604065	missense variant	-	NC_000003.12:g.156703437G>T	gnomAD
TIPARP	Q7Z3E1	p.Val421Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156703437G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Pro422Ser	rs749686048	missense variant	-	NC_000003.12:g.156703440C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro422Thr	rs749686048	missense variant	-	NC_000003.12:g.156703440C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro422Ala	rs749686048	missense variant	-	NC_000003.12:g.156703440C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ala425Pro	rs200460123	missense variant	-	NC_000003.12:g.156703449G>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ala425Gly	rs772247182	missense variant	-	NC_000003.12:g.156703450C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro426Ser	rs1289740413	missense variant	-	NC_000003.12:g.156703452C>T	gnomAD
TIPARP	Q7Z3E1	p.Pro428Arg	rs760849853	missense variant	-	NC_000003.12:g.156703459C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro428Ser	rs774571724	missense variant	-	NC_000003.12:g.156703458C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu429Val	rs1202254748	missense variant	-	NC_000003.12:g.156703461C>G	TOPMed
TIPARP	Q7Z3E1	p.Ala431Val	rs764320963	missense variant	-	NC_000003.12:g.156703468C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser435Pro	rs1482892663	missense variant	-	NC_000003.12:g.156703479T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly442Glu	rs1276018525	missense variant	-	NC_000003.12:g.156703501G>A	TOPMed
TIPARP	Q7Z3E1	p.Val443Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156703503G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Asn447His	rs201451219	missense variant	-	NC_000003.12:g.156703515A>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn447Asp	rs201451219	missense variant	-	NC_000003.12:g.156703515A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe448Leu	rs1389152742	missense variant	-	NC_000003.12:g.156703518T>C	gnomAD
TIPARP	Q7Z3E1	p.Tyr449His	rs912606472	missense variant	-	NC_000003.12:g.156703521T>C	TOPMed
TIPARP	Q7Z3E1	p.Val454Phe	rs1334810026	missense variant	-	NC_000003.12:g.156703536G>T	TOPMed
TIPARP	Q7Z3E1	p.Met456Val	rs752284660	missense variant	-	NC_000003.12:g.156703542A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln460Arg	rs1471030817	missense variant	-	NC_000003.12:g.156703555A>G	TOPMed
TIPARP	Q7Z3E1	p.Ile463Met	rs1334055498	missense variant	-	NC_000003.12:g.156703565C>G	gnomAD
TIPARP	Q7Z3E1	p.Ile463Val	rs942689983	missense variant	-	NC_000003.12:g.156703563A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val465Asp	COSM479629	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156703570T>A	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Pro466Arg	rs1450634187	missense variant	-	NC_000003.12:g.156703573C>G	gnomAD
TIPARP	Q7Z3E1	p.Val467Leu	rs777573979	missense variant	-	NC_000003.12:g.156703575G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val467Ile	rs777573979	missense variant	-	NC_000003.12:g.156703575G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys472Glu	rs757698240	missense variant	-	NC_000003.12:g.156703590A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser473Asn	rs1226375510	missense variant	-	NC_000003.12:g.156703594G>A	gnomAD
TIPARP	Q7Z3E1	p.Arg475Trp	rs150068199	missense variant	-	NC_000003.12:g.156703599C>T	ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg475Gln	COSM5892927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156703600G>A	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Asn479Ser	rs145315559	missense variant	-	NC_000003.12:g.156703612A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu487Asp	rs370596394	missense variant	-	NC_000003.12:g.156703637G>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys489Gln	rs747102891	missense variant	-	NC_000003.12:g.156703641A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu493Phe	rs776902281	missense variant	-	NC_000003.12:g.156703655G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln494His	rs762719514	missense variant	-	NC_000003.12:g.156703658G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu496Ser	rs774124108	missense variant	-	NC_000003.12:g.156703663T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu505Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156703691G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Lys506Arg	rs184863885	missense variant	-	NC_000003.12:g.156703693A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys508Arg	rs752190385	missense variant	-	NC_000003.12:g.156703699A>G	ExAC,TOPMed
TIPARP	Q7Z3E1	p.Lys510Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704686A>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Lys511Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704689A>C	NCI-TCGA
TIPARP	Q7Z3E1	p.Glu512Asp	rs140631438	missense variant	-	NC_000003.12:g.156704693A>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe519Ser	rs1261037745	missense variant	-	NC_000003.12:g.156704713T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly520Asp	rs1488040531	missense variant	-	NC_000003.12:g.156704716G>A	gnomAD
TIPARP	Q7Z3E1	p.Arg521His	rs199568062	missense variant	-	NC_000003.12:g.156704719G>A	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg521Ser	rs146547620	missense variant	-	NC_000003.12:g.156704718C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg521Cys	rs146547620	missense variant	-	NC_000003.12:g.156704718C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp522Gly	rs1321219131	missense variant	-	NC_000003.12:g.156704722A>G	TOPMed
TIPARP	Q7Z3E1	p.Asp522Tyr	rs963750734	missense variant	-	NC_000003.12:g.156704721G>T	gnomAD
TIPARP	Q7Z3E1	p.Asp522Glu	rs745663982	missense variant	-	NC_000003.12:g.156704723C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg523Gly	rs145937401	missense variant	-	NC_000003.12:g.156704724A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg523Lys	rs775538386	missense variant	-	NC_000003.12:g.156704725G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg523Trp	rs145937401	missense variant	-	NC_000003.12:g.156704724A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile524Val	rs1390872537	missense variant	-	NC_000003.12:g.156704727A>G	TOPMed
TIPARP	Q7Z3E1	p.Ile525Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704732A>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Asn526Ser	rs150170944	missense variant	-	NC_000003.12:g.156704734A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg528Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704740G>C	NCI-TCGA
TIPARP	Q7Z3E1	p.His532Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704751C>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Ser535Cys	rs776226052	missense variant	-	NC_000003.12:g.156704761C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp537Val	rs1183347333	missense variant	-	NC_000003.12:g.156704767A>T	TOPMed
TIPARP	Q7Z3E1	p.Asp537His	rs1291975962	missense variant	-	NC_000003.12:g.156704766G>C	gnomAD
TIPARP	Q7Z3E1	p.Lys544Arg	rs1477929991	missense variant	-	NC_000003.12:g.156704788A>G	TOPMed
TIPARP	Q7Z3E1	p.Asn546Ser	rs764935974	missense variant	-	NC_000003.12:g.156704794A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg550Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704806G>A	NCI-TCGA
TIPARP	Q7Z3E1	p.His555Arg	rs763349428	missense variant	-	NC_000003.12:g.156704821A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met558Thr	rs368152871	missense variant	-	NC_000003.12:g.156704830T>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met558Val	rs766769030	missense variant	-	NC_000003.12:g.156704829A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met558Ile	rs1242403472	missense variant	-	NC_000003.12:g.156704831G>A	gnomAD
TIPARP	Q7Z3E1	p.Phe559Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704832T>C	NCI-TCGA
TIPARP	Q7Z3E1	p.Gln561His	rs973547078	missense variant	-	NC_000003.12:g.156704840A>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ala566Thr	COSM3427268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156704853G>A	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Asn574Tyr	rs755428022	missense variant	-	NC_000003.12:g.156704877A>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser576Ala	rs1438174539	missense variant	-	NC_000003.12:g.156704883T>G	TOPMed
TIPARP	Q7Z3E1	p.Ser576Phe	COSM5540390	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156704884C>T	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Lys577Glu	rs1204016670	missense variant	-	NC_000003.12:g.156704886A>G	gnomAD
TIPARP	Q7Z3E1	p.Lys577Asn	COSM445853	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156704888G>C	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Ser579Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704893C>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Ser580Pro	rs1331122196	missense variant	-	NC_000003.12:g.156704895T>C	TOPMed
TIPARP	Q7Z3E1	p.Gly582Ala	rs1319292966	missense variant	-	NC_000003.12:g.156704902G>C	TOPMed
TIPARP	Q7Z3E1	p.Val583Asp	rs752819159	missense variant	-	NC_000003.12:g.156704905T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe585Leu	rs1455252651	missense variant	-	NC_000003.12:g.156704910T>C	TOPMed
TIPARP	Q7Z3E1	p.Ala589Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704922G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Thr593Met	rs1163198135	missense variant	-	NC_000003.12:g.156704935C>T	gnomAD
TIPARP	Q7Z3E1	p.Arg595Lys	rs1168206881	missense variant	-	NC_000003.12:g.156704941G>A	gnomAD
TIPARP	Q7Z3E1	p.Thr597Ala	rs749512926	missense variant	-	NC_000003.12:g.156704946A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Leu	rs771313745	missense variant	-	NC_000003.12:g.156704949A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Val	rs771313745	missense variant	-	NC_000003.12:g.156704949A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Thr	rs746816452	missense variant	-	NC_000003.12:g.156704950T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser600Thr	rs1316971743	missense variant	-	NC_000003.12:g.156704956G>C	gnomAD
TIPARP	Q7Z3E1	p.Ser600Cys	rs1394066979	missense variant	-	NC_000003.12:g.156704955A>T	gnomAD
TIPARP	Q7Z3E1	p.His601Tyr	rs761369679	missense variant	-	NC_000003.12:g.156704958C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly602Ala	rs1174463849	missense variant	-	NC_000003.12:g.156704962G>C	TOPMed
TIPARP	Q7Z3E1	p.Arg604Lys	COSM4398877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156704968G>A	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Arg605Ser	rs762552988	missense variant	-	NC_000003.12:g.156704972G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg605Ser	rs762552988	missense variant	-	NC_000003.12:g.156704972G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro606Leu	rs267599664	missense variant	-	NC_000003.12:g.156704974C>T	-
TIPARP	Q7Z3E1	p.Pro606His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704974C>A	NCI-TCGA
TIPARP	Q7Z3E1	p.Pro607Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156704977C>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Val609Ile	rs759897350	missense variant	-	NC_000003.12:g.156704982G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val609Leu	rs759897350	missense variant	-	NC_000003.12:g.156704982G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn610Ser	rs540401885	missense variant	-	NC_000003.12:g.156704986A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn610Asp	rs753194812	missense variant	-	NC_000003.12:g.156704985A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro611Thr	rs764041948	missense variant	-	NC_000003.12:g.156704988C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gly612Val	rs1229894784	missense variant	-	NC_000003.12:g.156704992G>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly612Asp	rs1229894784	missense variant	-	NC_000003.12:g.156704992G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser613Gly	rs1276262331	missense variant	-	NC_000003.12:g.156704994A>G	TOPMed
TIPARP	Q7Z3E1	p.Thr615Ala	rs1411701037	missense variant	-	NC_000003.12:g.156705000A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp617Asn	rs757500372	missense variant	-	NC_000003.12:g.156705006G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln630His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156705047G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Ile634Val	rs1291859416	missense variant	-	NC_000003.12:g.156705057A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile634Leu	rs1291859416	missense variant	-	NC_000003.12:g.156705057A>C	gnomAD
TIPARP	Q7Z3E1	p.Asp637Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156705066G>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Tyr641Cys	COSM4114802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.156705079A>G	NCI-TCGA Cosmic
TIPARP	Q7Z3E1	p.Tyr643IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.156705083_156705084insA	NCI-TCGA
TIPARP	Q7Z3E1	p.Tyr643Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.156705085A>G	NCI-TCGA
TIPARP	Q7Z3E1	p.Phe644Cys	rs781163882	missense variant	-	NC_000003.12:g.156705088T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile646Val	rs1366765234	missense variant	-	NC_000003.12:g.156705093A>G	TOPMed
TIPARP	Q7Z3E1	p.Gln647Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.156705096C>T	NCI-TCGA
TIPARP	Q7Z3E1	p.Ser652Gly	rs772548229	missense variant	-	NC_000003.12:g.156705111A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser652IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.156705111_156705112insTAAAG	NCI-TCGA
TIPARP	Q7Z3E1	p.Ser652Arg	rs772548229	missense variant	-	NC_000003.12:g.156705111A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn653Ser	rs748808261	missense variant	-	NC_000003.12:g.156705115A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr654Ala	rs1266929320	missense variant	-	NC_000003.12:g.156705117A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser656Thr	rs138664121	missense variant	-	NC_000003.12:g.156705123T>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser656Pro	rs138664121	missense variant	-	NC_000003.12:g.156705123T>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu2Lys	rs1469957050	missense variant	-	NC_000003.12:g.156677701G>A	gnomAD
TIPARP	Q7Z3E1	p.Met3Val	rs1156974645	missense variant	-	NC_000003.12:g.156677704A>G	gnomAD
TIPARP	Q7Z3E1	p.Met3Ile	rs868515771	missense variant	-	NC_000003.12:g.156677706G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr6Ile	rs781581358	missense variant	-	NC_000003.12:g.156677714C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr6Ala	rs1401304502	missense variant	-	NC_000003.12:g.156677713A>G	gnomAD
TIPARP	Q7Z3E1	p.Glu7Lys	rs770701311	missense variant	-	NC_000003.12:g.156677716G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro8Thr	rs778899104	missense variant	-	NC_000003.12:g.156677719C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu9Gln	rs546558483	missense variant	-	NC_000003.12:g.156677722G>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro10Leu	rs771541243	missense variant	-	NC_000003.12:g.156677726C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp11Glu	rs760946108	missense variant	-	NC_000003.12:g.156677730C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp11His	rs774941696	missense variant	-	NC_000003.12:g.156677728G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val13Ile	rs1232121372	missense variant	-	NC_000003.12:g.156677734G>A	gnomAD
TIPARP	Q7Z3E1	p.Val14Leu	rs776153131	missense variant	-	NC_000003.12:g.156677737G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val14Met	rs776153131	missense variant	-	NC_000003.12:g.156677737G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro19Ser	rs762231689	missense variant	-	NC_000003.12:g.156677752C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp21Gly	rs765576832	missense variant	-	NC_000003.12:g.156677759A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu31Gln	rs140846531	missense variant	-	NC_000003.12:g.156677788G>C	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile33Thr	rs1196989993	missense variant	-	NC_000003.12:g.156677795T>C	TOPMed
TIPARP	Q7Z3E1	p.Ile33Val	rs755118316	missense variant	-	NC_000003.12:g.156677794A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro35Gln	rs1165514996	missense variant	-	NC_000003.12:g.156677801C>A	gnomAD
TIPARP	Q7Z3E1	p.Leu36Phe	rs767777633	missense variant	-	NC_000003.12:g.156677805G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Cys39Tyr	rs1330694297	missense variant	-	NC_000003.12:g.156677813G>A	gnomAD
TIPARP	Q7Z3E1	p.Cys39Arg	rs1490831364	missense variant	-	NC_000003.12:g.156677812T>C	TOPMed
TIPARP	Q7Z3E1	p.Phe40Ser	rs369539588	missense variant	-	NC_000003.12:g.156677816T>C	ESP,TOPMed
TIPARP	Q7Z3E1	p.Lys42Glu	rs200349044	missense variant	-	NC_000003.12:g.156677821A>G	1000Genomes
TIPARP	Q7Z3E1	p.Lys42Arg	rs144427222	missense variant	-	NC_000003.12:g.156677822A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys43Arg	rs1413853265	missense variant	-	NC_000003.12:g.156677825A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp44Val	rs757054333	missense variant	-	NC_000003.12:g.156677828A>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp44Tyr	rs1314626498	missense variant	-	NC_000003.12:g.156677827G>T	TOPMed
TIPARP	Q7Z3E1	p.Asp44Glu	rs778614554	missense variant	-	NC_000003.12:g.156677829T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu53Val	rs1281827005	missense variant	-	NC_000003.12:g.156677854C>G	TOPMed
TIPARP	Q7Z3E1	p.Leu60Ile	rs1346761723	missense variant	-	NC_000003.12:g.156677875T>A	TOPMed
TIPARP	Q7Z3E1	p.Asn61Ser	rs1194403954	missense variant	-	NC_000003.12:g.156677879A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr62Ser	rs758283343	missense variant	-	NC_000003.12:g.156677882C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu64Ile	rs1255712431	missense variant	-	NC_000003.12:g.156677887C>A	gnomAD
TIPARP	Q7Z3E1	p.Leu69Pro	rs1331911830	missense variant	-	NC_000003.12:g.156677903T>C	gnomAD
TIPARP	Q7Z3E1	p.Asp70Gly	rs776332548	missense variant	-	NC_000003.12:g.156677906A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val72Ala	rs373659607	missense variant	-	NC_000003.12:g.156677912T>C	ESP
TIPARP	Q7Z3E1	p.Ser75Tyr	rs1367037499	missense variant	-	NC_000003.12:g.156677921C>A	gnomAD
TIPARP	Q7Z3E1	p.Gln78Arg	rs547183561	missense variant	-	NC_000003.12:g.156677930A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser79Thr	rs1414170718	missense variant	-	NC_000003.12:g.156677933G>C	TOPMed
TIPARP	Q7Z3E1	p.Thr80Ala	rs1433869787	missense variant	-	NC_000003.12:g.156677935A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp81Tyr	rs1427423976	missense variant	-	NC_000003.12:g.156677938G>T	TOPMed
TIPARP	Q7Z3E1	p.Glu82Asp	rs763428665	missense variant	-	NC_000003.12:g.156677943G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His86Arg	rs1356995828	missense variant	-	NC_000003.12:g.156677954A>G	gnomAD
TIPARP	Q7Z3E1	p.Pro88Thr	rs766929028	missense variant	-	NC_000003.12:g.156677959C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro88Ser	rs766929028	missense variant	-	NC_000003.12:g.156677959C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met89Arg	rs1185862685	missense variant	-	NC_000003.12:g.156677963T>G	TOPMed
TIPARP	Q7Z3E1	p.Met89Val	rs568594097	missense variant	-	NC_000003.12:g.156677962A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met94Arg	rs1225949830	missense variant	-	NC_000003.12:g.156677978T>G	gnomAD
TIPARP	Q7Z3E1	p.Ile96Val	rs767546856	missense variant	-	NC_000003.12:g.156677983A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn97His	rs1296705490	missense variant	-	NC_000003.12:g.156677986A>C	gnomAD
TIPARP	Q7Z3E1	p.Pro101Thr	rs1210646750	missense variant	-	NC_000003.12:g.156677998C>A	gnomAD
TIPARP	Q7Z3E1	p.Asn105Thr	rs750161818	missense variant	-	NC_000003.12:g.156678011A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn106Ser	rs758193176	missense variant	-	NC_000003.12:g.156678014A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met107Val	rs761597601	missense variant	-	NC_000003.12:g.156678016A>G	gnomAD
TIPARP	Q7Z3E1	p.Met107Thr	rs747004966	missense variant	-	NC_000003.12:g.156678017T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile111Leu	rs1324727307	missense variant	-	NC_000003.12:g.156678028A>C	TOPMed
TIPARP	Q7Z3E1	p.Asp113Asn	rs377432950	missense variant	-	NC_000003.12:g.156678034G>A	ESP,TOPMed
TIPARP	Q7Z3E1	p.Arg114Gly	rs1171574601	missense variant	-	NC_000003.12:g.156678037A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr115Arg	rs1270890303	missense variant	-	NC_000003.12:g.156678041C>G	TOPMed
TIPARP	Q7Z3E1	p.Thr115Ser	rs1364672501	missense variant	-	NC_000003.12:g.156678040A>T	TOPMed
TIPARP	Q7Z3E1	p.Asn116Ser	rs1466292816	missense variant	-	NC_000003.12:g.156678044A>G	gnomAD
TIPARP	Q7Z3E1	p.Asn116Asp	rs780604647	missense variant	-	NC_000003.12:g.156678043A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val117Ala	rs868513491	missense variant	-	NC_000003.12:g.156678047T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly118Glu	rs1338961044	missense variant	-	NC_000003.12:g.156678050G>A	TOPMed
TIPARP	Q7Z3E1	p.Asp119Asn	rs747722067	missense variant	-	NC_000003.12:g.156678052G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp119Gly	rs1298308351	missense variant	-	NC_000003.12:g.156678053A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp119Val	rs1298308351	missense variant	-	NC_000003.12:g.156678053A>T	gnomAD
TIPARP	Q7Z3E1	p.Ile121Lys	rs201782670	missense variant	-	NC_000003.12:g.156678059T>A	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile121Thr	rs201782670	missense variant	-	NC_000003.12:g.156678059T>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile121Met	rs1233983933	missense variant	-	NC_000003.12:g.156678060A>G	gnomAD
TIPARP	Q7Z3E1	p.Pro122Leu	rs772928271	missense variant	-	NC_000003.12:g.156678062C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro122Thr	rs1301783177	missense variant	-	NC_000003.12:g.156678061C>A	gnomAD
TIPARP	Q7Z3E1	p.Glu123Lys	rs1260370769	missense variant	-	NC_000003.12:g.156678064G>A	gnomAD
TIPARP	Q7Z3E1	p.His125Arg	rs1248543218	missense variant	-	NC_000003.12:g.156678071A>G	gnomAD
TIPARP	Q7Z3E1	p.His125Asp	rs774980008	missense variant	-	NC_000003.12:g.156678070C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro126Ser	rs757036019	missense variant	-	NC_000003.12:g.156678073C>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser127Pro	rs1191510420	missense variant	-	NC_000003.12:g.156678076T>C	gnomAD
TIPARP	Q7Z3E1	p.Arg133Ter	rs569197742	stop gained	-	NC_000003.12:g.156678094C>T	1000Genomes,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Leu	rs147956353	missense variant	-	NC_000003.12:g.156678095G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Gly	rs569197742	missense variant	-	NC_000003.12:g.156678094C>G	1000Genomes,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Gln	rs147956353	missense variant	-	NC_000003.12:g.156678095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val135Ile	rs1361728193	missense variant	-	NC_000003.12:g.156678100G>A	gnomAD
TIPARP	Q7Z3E1	p.Pro136Gln	rs140235972	missense variant	-	NC_000003.12:g.156678104C>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro136Ser	rs558453273	missense variant	-	NC_000003.12:g.156678103C>T	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro136Arg	rs140235972	missense variant	-	NC_000003.12:g.156678104C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln138Arg	rs1461451634	missense variant	-	NC_000003.12:g.156678110A>G	TOPMed
TIPARP	Q7Z3E1	p.Asp139Val	rs1251155796	missense variant	-	NC_000003.12:g.156678113A>T	TOPMed
TIPARP	Q7Z3E1	p.His140Asp	rs1188346646	missense variant	-	NC_000003.12:g.156678115C>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Arg	rs1056511062	missense variant	-	NC_000003.12:g.156678116A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Asn	rs1188346646	missense variant	-	NC_000003.12:g.156678115C>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Gln	rs570398140	missense variant	-	NC_000003.12:g.156678117C>A	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.His140Pro	rs1056511062	missense variant	-	NC_000003.12:g.156678116A>C	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe142Ser	rs754124618	missense variant	-	NC_000003.12:g.156678122T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro143Ala	rs762723611	missense variant	-	NC_000003.12:g.156678124C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser144Pro	rs766210307	missense variant	-	NC_000003.12:g.156678127T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu145Gly	rs1435480214	missense variant	-	NC_000003.12:g.156678131A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr146Ile	rs1306496410	missense variant	-	NC_000003.12:g.156678134C>T	gnomAD
TIPARP	Q7Z3E1	p.Leu147His	rs752087020	missense variant	-	NC_000003.12:g.156678137T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu147Phe	rs371094017	missense variant	-	NC_000003.12:g.156678136C>T	ESP,ExAC,TOPMed
TIPARP	Q7Z3E1	p.Ser148Arg	rs1268917045	missense variant	-	NC_000003.12:g.156678141T>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly149Glu	rs1297430382	missense variant	-	NC_000003.12:g.156678143G>A	TOPMed
TIPARP	Q7Z3E1	p.Thr150Met	rs755720358	missense variant	-	NC_000003.12:g.156678146C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ala152Ser	rs534523851	missense variant	-	NC_000003.12:g.156678151G>T	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser154Cys	rs375315846	missense variant	-	NC_000003.12:g.156678158C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr155Ala	rs779381790	missense variant	-	NC_000003.12:g.156678160A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro156Leu	rs746258116	missense variant	-	NC_000003.12:g.156678164C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His158Arg	rs772403493	missense variant	-	NC_000003.12:g.156678170A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe159Leu	rs200200707	missense variant	-	NC_000003.12:g.156678174C>G	TOPMed
TIPARP	Q7Z3E1	p.Phe159Ser	rs1459421210	missense variant	-	NC_000003.12:g.156678173T>C	gnomAD
TIPARP	Q7Z3E1	p.Thr161Ser	rs994568863	missense variant	-	NC_000003.12:g.156678179C>G	TOPMed
TIPARP	Q7Z3E1	p.Leu163Ile	rs776070977	missense variant	-	NC_000003.12:g.156678184C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu163Val	rs776070977	missense variant	-	NC_000003.12:g.156678184C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu164Ser	rs1222441797	missense variant	-	NC_000003.12:g.156678188T>C	TOPMed
TIPARP	Q7Z3E1	p.Val167Phe	rs1371447209	missense variant	-	NC_000003.12:g.156678196G>T	gnomAD
TIPARP	Q7Z3E1	p.Ser168Leu	rs776811846	missense variant	-	NC_000003.12:g.156678200C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp170Val	rs765471373	missense variant	-	NC_000003.12:g.156678206A>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro175Leu	rs751301965	missense variant	-	NC_000003.12:g.156678221C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu178Val	rs759385620	missense variant	-	NC_000003.12:g.156678229T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp179Gly	rs767287641	missense variant	-	NC_000003.12:g.156678233A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys180Arg	rs372015234	missense variant	-	NC_000003.12:g.156678236A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys180Thr	rs372015234	missense variant	-	NC_000003.12:g.156678236A>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val181Ile	rs755559962	missense variant	-	NC_000003.12:g.156678238G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile182Val	rs140976569	missense variant	-	NC_000003.12:g.156678241A>G	ESP
TIPARP	Q7Z3E1	p.Tyr184Cys	rs1182371185	missense variant	-	NC_000003.12:g.156678248A>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr184Asp	rs777469638	missense variant	-	NC_000003.12:g.156678247T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser193Gly	rs1473913455	missense variant	-	NC_000003.12:g.156678274A>G	gnomAD
TIPARP	Q7Z3E1	p.Phe194Ser	rs1189500859	missense variant	-	NC_000003.12:g.156678278T>C	gnomAD
TIPARP	Q7Z3E1	p.Ile196Val	rs150223955	missense variant	-	NC_000003.12:g.156678283A>G	ESP,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln197Arg	rs1170168644	missense variant	-	NC_000003.12:g.156678287A>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr198His	rs1165006151	missense variant	-	NC_000003.12:g.156678289T>C	TOPMed
TIPARP	Q7Z3E1	p.Tyr198Cys	rs746154012	missense variant	-	NC_000003.12:g.156678290A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile199Thr	rs1308823808	missense variant	-	NC_000003.12:g.156678293T>C	gnomAD
TIPARP	Q7Z3E1	p.Asp201His	rs772553375	missense variant	-	NC_000003.12:g.156678298G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr202Pro	rs747599850	missense variant	-	NC_000003.12:g.156678301A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr202Ala	rs747599850	missense variant	-	NC_000003.12:g.156678301A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser203Thr	rs768586185	missense variant	-	NC_000003.12:g.156678305G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu210Val	rs1293361007	missense variant	-	NC_000003.12:g.156678325C>G	gnomAD
TIPARP	Q7Z3E1	p.Gln212Leu	rs1343992691	missense variant	-	NC_000003.12:g.156678332A>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln212Arg	rs1343992691	missense variant	-	NC_000003.12:g.156678332A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp213Asn	rs201843889	missense variant	-	NC_000003.12:g.156678334G>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu217Asp	rs1279139901	missense variant	-	NC_000003.12:g.156678348G>C	gnomAD
TIPARP	Q7Z3E1	p.Ala218Ser	rs1484506901	missense variant	-	NC_000003.12:g.156678349G>T	gnomAD
TIPARP	Q7Z3E1	p.Leu222Phe	rs773424243	missense variant	-	NC_000003.12:g.156678361C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val223Met	rs759242586	missense variant	-	NC_000003.12:g.156678364G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu225Gln	rs758347957	missense variant	-	NC_000003.12:g.156678370G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His235Arg	rs983254095	missense variant	-	NC_000003.12:g.156678401A>G	TOPMed
TIPARP	Q7Z3E1	p.Glu237Ala	rs1336416903	missense variant	-	NC_000003.12:g.156678407A>C	gnomAD
TIPARP	Q7Z3E1	p.Asn238Asp	rs140486151	missense variant	-	NC_000003.12:g.156678409A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met244Val	rs1430147291	missense variant	-	NC_000003.12:g.156678427A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met244Thr	rs1317726110	missense variant	-	NC_000003.12:g.156678428T>C	TOPMed
TIPARP	Q7Z3E1	p.Gln248Arg	rs753340986	missense variant	-	NC_000003.12:g.156678440A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gly249Asp	rs756834863	missense variant	-	NC_000003.12:g.156678443G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr250Ile	rs764978014	missense variant	-	NC_000003.12:g.156678446C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr250Ser	rs764978014	missense variant	-	NC_000003.12:g.156678446C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile252Met	rs201976652	missense variant	-	NC_000003.12:g.156678453T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg255Gly	rs758666395	missense variant	-	NC_000003.12:g.156678460A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp256Tyr	rs779765422	missense variant	-	NC_000003.12:g.156678463G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp256Gly	rs747363738	missense variant	-	NC_000003.12:g.156678464A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp256Glu	rs1466691731	missense variant	-	NC_000003.12:g.156678465T>G	gnomAD
TIPARP	Q7Z3E1	p.Leu258Phe	rs1189598175	missense variant	-	NC_000003.12:g.156678471G>T	gnomAD
TIPARP	Q7Z3E1	p.Lys259Arg	rs1286559879	missense variant	-	NC_000003.12:g.156678473A>G	TOPMed
TIPARP	Q7Z3E1	p.Ile270Met	rs781670937	missense variant	-	NC_000003.12:g.156678507C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Lys271Gln	rs1426168303	missense variant	-	NC_000003.12:g.156678508A>C	gnomAD
TIPARP	Q7Z3E1	p.Arg272Ser	rs746495291	missense variant	-	NC_000003.12:g.156678513G>C	TOPMed
TIPARP	Q7Z3E1	p.Arg272Gly	rs748156388	missense variant	-	NC_000003.12:g.156678511A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr273Ile	rs1479652371	missense variant	-	NC_000003.12:g.156678515C>T	TOPMed
TIPARP	Q7Z3E1	p.Thr273Ser	rs1489734415	missense variant	-	NC_000003.12:g.156678514A>T	gnomAD
TIPARP	Q7Z3E1	p.Ser280Asn	rs1438383637	missense variant	-	NC_000003.12:g.156678536G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe282Val	rs1428394274	missense variant	-	NC_000003.12:g.156678541T>G	TOPMed
TIPARP	Q7Z3E1	p.Asn283Ser	rs145662613	missense variant	-	NC_000003.12:g.156678545A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn283Ile	rs145662613	missense variant	-	NC_000003.12:g.156678545A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser285Phe	rs947722121	missense variant	-	NC_000003.12:g.156678551C>T	gnomAD
TIPARP	Q7Z3E1	p.Cys294Gly	rs775306797	missense variant	-	NC_000003.12:g.156678577T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn295Asp	rs138118991	missense variant	-	NC_000003.12:g.156678580A>G	1000Genomes,ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp299Gly	rs149538633	missense variant	-	NC_000003.12:g.156678593A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys304Asn	rs776778193	missense variant	-	NC_000003.12:g.156678609G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr305Cys	rs35768405	missense variant	-	NC_000003.12:g.156678611A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr305Ser	rs35768405	missense variant	-	NC_000003.12:g.156678611A>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly307Glu	rs1390490421	missense variant	-	NC_000003.12:g.156694022G>A	gnomAD
TIPARP	Q7Z3E1	p.Glu309Ala	rs1240885572	missense variant	-	NC_000003.12:g.156694028A>C	TOPMed
TIPARP	Q7Z3E1	p.Asp313Glu	rs1173472969	missense variant	-	NC_000003.12:g.156694041T>G	gnomAD
TIPARP	Q7Z3E1	p.Ala316Val	rs1379031614	missense variant	-	NC_000003.12:g.156694049C>T	gnomAD
TIPARP	Q7Z3E1	p.Met317Leu	rs1466086841	missense variant	-	NC_000003.12:g.156694051A>C	gnomAD
TIPARP	Q7Z3E1	p.Val319Met	rs768539321	missense variant	-	NC_000003.12:g.156694057G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val319Leu	rs768539321	missense variant	-	NC_000003.12:g.156694057G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Tyr320Cys	rs769711462	missense variant	-	NC_000003.12:g.156694061A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr323Asn	rs773024103	missense variant	-	NC_000003.12:g.156694070C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln327Lys	rs762517684	missense variant	-	NC_000003.12:g.156694081C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln327His	rs770403066	missense variant	-	NC_000003.12:g.156694083A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln327Glu	rs762517684	missense variant	-	NC_000003.12:g.156694081C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser332Cys	rs1210445105	missense variant	-	NC_000003.12:g.156694097C>G	gnomAD
TIPARP	Q7Z3E1	p.Ser336Phe	rs761032073	missense variant	-	NC_000003.12:g.156694109C>T	ExAC
TIPARP	Q7Z3E1	p.Ser336Ala	rs1467830652	missense variant	-	NC_000003.12:g.156694108T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn338Ser	rs148252230	missense variant	-	NC_000003.12:g.156694115A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn340Ser	rs1036522422	missense variant	-	NC_000003.12:g.156694121A>G	-
TIPARP	Q7Z3E1	p.Ser341Cys	rs1409042958	missense variant	-	NC_000003.12:g.156694124C>G	gnomAD
TIPARP	Q7Z3E1	p.Ile342Val	rs200857296	missense variant	-	NC_000003.12:g.156694126A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val346Leu	rs200119519	missense variant	-	NC_000003.12:g.156694138G>C	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe349Cys	rs1457691071	missense variant	-	NC_000003.12:g.156694148T>G	gnomAD
TIPARP	Q7Z3E1	p.Arg358Thr	rs750560844	missense variant	-	NC_000003.12:g.156694175G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu359Ala	rs1425278368	missense variant	-	NC_000003.12:g.156694178A>C	gnomAD
TIPARP	Q7Z3E1	p.Pro361Ala	rs141280180	missense variant	-	NC_000003.12:g.156694183C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro361Arg	rs1387504652	missense variant	-	NC_000003.12:g.156694184C>G	gnomAD
TIPARP	Q7Z3E1	p.Pro361Ser	rs141280180	missense variant	-	NC_000003.12:g.156694183C>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu362Lys	rs150739414	missense variant	-	NC_000003.12:g.156694186G>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile365Val	rs139609776	missense variant	-	NC_000003.12:g.156695871A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg366Gln	rs745377501	missense variant	-	NC_000003.12:g.156695875G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg366Leu	rs745377501	missense variant	-	NC_000003.12:g.156695875G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg366Gly	rs778830481	missense variant	-	NC_000003.12:g.156695874C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu369Ter	rs1331757567	stop gained	-	NC_000003.12:g.156695883G>T	TOPMed
TIPARP	Q7Z3E1	p.Glu369Ala	rs1390721044	missense variant	-	NC_000003.12:g.156695884A>C	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ala371Thr	rs1168397565	missense variant	-	NC_000003.12:g.156695889G>A	gnomAD
TIPARP	Q7Z3E1	p.Asn372Ser	rs143409745	missense variant	-	NC_000003.12:g.156695893A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn372His	rs746682952	missense variant	-	NC_000003.12:g.156695892A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn372Thr	rs143409745	missense variant	-	NC_000003.12:g.156695893A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser373Pro	rs762251916	missense variant	-	NC_000003.12:g.156695895T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser373Phe	rs1358581953	missense variant	-	NC_000003.12:g.156695896C>T	gnomAD
TIPARP	Q7Z3E1	p.Arg374Gln	rs773919171	missense variant	-	NC_000003.12:g.156695899G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg374Trp	rs201159091	missense variant	-	NC_000003.12:g.156695898C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly375Cys	rs1379855861	missense variant	-	NC_000003.12:g.156695901G>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu376Pro	rs763107741	missense variant	-	NC_000003.12:g.156695905T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu378Ala	rs766612770	missense variant	-	NC_000003.12:g.156695911A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg380Gln	rs1302605426	missense variant	-	NC_000003.12:g.156695917G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe381Ser	rs147143306	missense variant	-	NC_000003.12:g.156695920T>C	ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Trp384Cys	rs552678860	missense variant	-	NC_000003.12:g.156695930G>T	gnomAD
TIPARP	Q7Z3E1	p.Asn385Asp	rs1380989916	missense variant	-	NC_000003.12:g.156695931A>G	gnomAD
TIPARP	Q7Z3E1	p.Asn386Lys	rs1309888637	missense variant	-	NC_000003.12:g.156695936C>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr388Cys	rs1239696007	missense variant	-	NC_000003.12:g.156695941A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile389Val	rs767797746	missense variant	-	NC_000003.12:g.156695943A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu390Arg	rs1437753614	missense variant	-	NC_000003.12:g.156695947T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His391Arg	rs753513614	missense variant	-	NC_000003.12:g.156695950A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn392Ser	rs757147574	missense variant	-	NC_000003.12:g.156695953A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg396Gly	rs757874481	missense variant	-	NC_000003.12:g.156695964A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg397Gly	rs1221148557	missense variant	-	NC_000003.12:g.156695967A>G	TOPMed
TIPARP	Q7Z3E1	p.Arg397Ser	rs779496951	missense variant	-	NC_000003.12:g.156695969A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu398Asp	rs746549290	missense variant	-	NC_000003.12:g.156695972G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile399Thr	rs768134379	missense variant	-	NC_000003.12:g.156695974T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile399Arg	rs768134379	missense variant	-	NC_000003.12:g.156695974T>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro403Ser	rs1362884365	missense variant	-	NC_000003.12:g.156695985C>T	TOPMed
TIPARP	Q7Z3E1	p.Phe405Leu	rs770336627	missense variant	-	NC_000003.12:g.156695993C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406Leu	rs771589802	missense variant	-	NC_000003.12:g.156695995G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg406Cys	rs17854621	missense variant	-	NC_000003.12:g.156695994C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406His	rs771589802	missense variant	-	NC_000003.12:g.156695995G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg406Ser	rs17854621	missense variant	-	NC_000003.12:g.156695994C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406Ser	rs17854621	missense variant	-	NC_000003.12:g.156695994C>A	UniProt,dbSNP
TIPARP	Q7Z3E1	p.Arg406Ser	VAR_027155	missense variant	-	NC_000003.12:g.156695994C>A	UniProt
TIPARP	Q7Z3E1	p.Phe409Ile	rs1435577851	missense variant	-	NC_000003.12:g.156696003T>A	gnomAD
TIPARP	Q7Z3E1	p.Phe409Tyr	rs774240678	missense variant	-	NC_000003.12:g.156696004T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu412Phe	rs140142843	missense variant	-	NC_000003.12:g.156696012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu412His	rs1278786503	missense variant	-	NC_000003.12:g.156696013T>A	gnomAD
TIPARP	Q7Z3E1	p.Val421Phe	rs1162604065	missense variant	-	NC_000003.12:g.156703437G>T	gnomAD
TIPARP	Q7Z3E1	p.Pro422Ala	rs749686048	missense variant	-	NC_000003.12:g.156703440C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro422Thr	rs749686048	missense variant	-	NC_000003.12:g.156703440C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro422Ser	rs749686048	missense variant	-	NC_000003.12:g.156703440C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ala425Pro	rs200460123	missense variant	-	NC_000003.12:g.156703449G>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ala425Gly	rs772247182	missense variant	-	NC_000003.12:g.156703450C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro426Ser	rs1289740413	missense variant	-	NC_000003.12:g.156703452C>T	gnomAD
TIPARP	Q7Z3E1	p.Pro428Arg	rs760849853	missense variant	-	NC_000003.12:g.156703459C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro428Ser	rs774571724	missense variant	-	NC_000003.12:g.156703458C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu429Val	rs1202254748	missense variant	-	NC_000003.12:g.156703461C>G	TOPMed
TIPARP	Q7Z3E1	p.Ala431Val	rs764320963	missense variant	-	NC_000003.12:g.156703468C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser435Pro	rs1482892663	missense variant	-	NC_000003.12:g.156703479T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly442Glu	rs1276018525	missense variant	-	NC_000003.12:g.156703501G>A	TOPMed
TIPARP	Q7Z3E1	p.Asn447His	rs201451219	missense variant	-	NC_000003.12:g.156703515A>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn447Asp	rs201451219	missense variant	-	NC_000003.12:g.156703515A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe448Leu	rs1389152742	missense variant	-	NC_000003.12:g.156703518T>C	gnomAD
TIPARP	Q7Z3E1	p.Tyr449His	rs912606472	missense variant	-	NC_000003.12:g.156703521T>C	TOPMed
TIPARP	Q7Z3E1	p.Val454Phe	rs1334810026	missense variant	-	NC_000003.12:g.156703536G>T	TOPMed
TIPARP	Q7Z3E1	p.Met456Val	rs752284660	missense variant	-	NC_000003.12:g.156703542A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln460Arg	rs1471030817	missense variant	-	NC_000003.12:g.156703555A>G	TOPMed
TIPARP	Q7Z3E1	p.Ile463Met	rs1334055498	missense variant	-	NC_000003.12:g.156703565C>G	gnomAD
TIPARP	Q7Z3E1	p.Ile463Val	rs942689983	missense variant	-	NC_000003.12:g.156703563A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro466Arg	rs1450634187	missense variant	-	NC_000003.12:g.156703573C>G	gnomAD
TIPARP	Q7Z3E1	p.Val467Leu	rs777573979	missense variant	-	NC_000003.12:g.156703575G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val467Ile	rs777573979	missense variant	-	NC_000003.12:g.156703575G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys472Glu	rs757698240	missense variant	-	NC_000003.12:g.156703590A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser473Asn	rs1226375510	missense variant	-	NC_000003.12:g.156703594G>A	gnomAD
TIPARP	Q7Z3E1	p.Arg475Trp	rs150068199	missense variant	-	NC_000003.12:g.156703599C>T	ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn479Ser	rs145315559	missense variant	-	NC_000003.12:g.156703612A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu487Asp	rs370596394	missense variant	-	NC_000003.12:g.156703637G>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys489Gln	rs747102891	missense variant	-	NC_000003.12:g.156703641A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu493Phe	rs776902281	missense variant	-	NC_000003.12:g.156703655G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln494His	rs762719514	missense variant	-	NC_000003.12:g.156703658G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu496Ser	rs774124108	missense variant	-	NC_000003.12:g.156703663T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Lys506Arg	rs184863885	missense variant	-	NC_000003.12:g.156703693A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys508Arg	rs752190385	missense variant	-	NC_000003.12:g.156703699A>G	ExAC,TOPMed
TIPARP	Q7Z3E1	p.Glu512Asp	rs140631438	missense variant	-	NC_000003.12:g.156704693A>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe519Ser	rs1261037745	missense variant	-	NC_000003.12:g.156704713T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly520Asp	rs1488040531	missense variant	-	NC_000003.12:g.156704716G>A	gnomAD
TIPARP	Q7Z3E1	p.Arg521His	rs199568062	missense variant	-	NC_000003.12:g.156704719G>A	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg521Ser	rs146547620	missense variant	-	NC_000003.12:g.156704718C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg521Cys	rs146547620	missense variant	-	NC_000003.12:g.156704718C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp522Gly	rs1321219131	missense variant	-	NC_000003.12:g.156704722A>G	TOPMed
TIPARP	Q7Z3E1	p.Asp522Glu	rs745663982	missense variant	-	NC_000003.12:g.156704723C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp522Tyr	rs963750734	missense variant	-	NC_000003.12:g.156704721G>T	gnomAD
TIPARP	Q7Z3E1	p.Arg523Gly	rs145937401	missense variant	-	NC_000003.12:g.156704724A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg523Lys	rs775538386	missense variant	-	NC_000003.12:g.156704725G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg523Trp	rs145937401	missense variant	-	NC_000003.12:g.156704724A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile524Val	rs1390872537	missense variant	-	NC_000003.12:g.156704727A>G	TOPMed
TIPARP	Q7Z3E1	p.Asn526Ser	rs150170944	missense variant	-	NC_000003.12:g.156704734A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser535Cys	rs776226052	missense variant	-	NC_000003.12:g.156704761C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp537His	rs1291975962	missense variant	-	NC_000003.12:g.156704766G>C	gnomAD
TIPARP	Q7Z3E1	p.Asp537Val	rs1183347333	missense variant	-	NC_000003.12:g.156704767A>T	TOPMed
TIPARP	Q7Z3E1	p.Lys544Arg	rs1477929991	missense variant	-	NC_000003.12:g.156704788A>G	TOPMed
TIPARP	Q7Z3E1	p.Asn546Ser	rs764935974	missense variant	-	NC_000003.12:g.156704794A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His555Arg	rs763349428	missense variant	-	NC_000003.12:g.156704821A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met558Val	rs766769030	missense variant	-	NC_000003.12:g.156704829A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met558Thr	rs368152871	missense variant	-	NC_000003.12:g.156704830T>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met558Ile	rs1242403472	missense variant	-	NC_000003.12:g.156704831G>A	gnomAD
TIPARP	Q7Z3E1	p.Gln561His	rs973547078	missense variant	-	NC_000003.12:g.156704840A>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn574Tyr	rs755428022	missense variant	-	NC_000003.12:g.156704877A>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser576Ala	rs1438174539	missense variant	-	NC_000003.12:g.156704883T>G	TOPMed
TIPARP	Q7Z3E1	p.Lys577Glu	rs1204016670	missense variant	-	NC_000003.12:g.156704886A>G	gnomAD
TIPARP	Q7Z3E1	p.Ser580Pro	rs1331122196	missense variant	-	NC_000003.12:g.156704895T>C	TOPMed
TIPARP	Q7Z3E1	p.Gly582Ala	rs1319292966	missense variant	-	NC_000003.12:g.156704902G>C	TOPMed
TIPARP	Q7Z3E1	p.Val583Asp	rs752819159	missense variant	-	NC_000003.12:g.156704905T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe585Leu	rs1455252651	missense variant	-	NC_000003.12:g.156704910T>C	TOPMed
TIPARP	Q7Z3E1	p.Thr593Met	rs1163198135	missense variant	-	NC_000003.12:g.156704935C>T	gnomAD
TIPARP	Q7Z3E1	p.Arg595Lys	rs1168206881	missense variant	-	NC_000003.12:g.156704941G>A	gnomAD
TIPARP	Q7Z3E1	p.Thr597Ala	rs749512926	missense variant	-	NC_000003.12:g.156704946A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Thr	rs746816452	missense variant	-	NC_000003.12:g.156704950T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met598Leu	rs771313745	missense variant	-	NC_000003.12:g.156704949A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Val	rs771313745	missense variant	-	NC_000003.12:g.156704949A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser600Thr	rs1316971743	missense variant	-	NC_000003.12:g.156704956G>C	gnomAD
TIPARP	Q7Z3E1	p.Ser600Cys	rs1394066979	missense variant	-	NC_000003.12:g.156704955A>T	gnomAD
TIPARP	Q7Z3E1	p.His601Tyr	rs761369679	missense variant	-	NC_000003.12:g.156704958C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly602Ala	rs1174463849	missense variant	-	NC_000003.12:g.156704962G>C	TOPMed
TIPARP	Q7Z3E1	p.Arg605Ser	rs762552988	missense variant	-	NC_000003.12:g.156704972G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg605Ser	rs762552988	missense variant	-	NC_000003.12:g.156704972G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro606Leu	rs267599664	missense variant	-	NC_000003.12:g.156704974C>T	-
TIPARP	Q7Z3E1	p.Val609Leu	rs759897350	missense variant	-	NC_000003.12:g.156704982G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val609Ile	rs759897350	missense variant	-	NC_000003.12:g.156704982G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn610Ser	rs540401885	missense variant	-	NC_000003.12:g.156704986A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn610Asp	rs753194812	missense variant	-	NC_000003.12:g.156704985A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro611Thr	rs764041948	missense variant	-	NC_000003.12:g.156704988C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gly612Val	rs1229894784	missense variant	-	NC_000003.12:g.156704992G>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly612Asp	rs1229894784	missense variant	-	NC_000003.12:g.156704992G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser613Gly	rs1276262331	missense variant	-	NC_000003.12:g.156704994A>G	TOPMed
TIPARP	Q7Z3E1	p.Thr615Ala	rs1411701037	missense variant	-	NC_000003.12:g.156705000A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp617Asn	rs757500372	missense variant	-	NC_000003.12:g.156705006G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile634Val	rs1291859416	missense variant	-	NC_000003.12:g.156705057A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile634Leu	rs1291859416	missense variant	-	NC_000003.12:g.156705057A>C	gnomAD
TIPARP	Q7Z3E1	p.Phe644Cys	rs781163882	missense variant	-	NC_000003.12:g.156705088T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile646Val	rs1366765234	missense variant	-	NC_000003.12:g.156705093A>G	TOPMed
TIPARP	Q7Z3E1	p.Ser652Arg	rs772548229	missense variant	-	NC_000003.12:g.156705111A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser652Gly	rs772548229	missense variant	-	NC_000003.12:g.156705111A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn653Ser	rs748808261	missense variant	-	NC_000003.12:g.156705115A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr654Ala	rs1266929320	missense variant	-	NC_000003.12:g.156705117A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser656Thr	rs138664121	missense variant	-	NC_000003.12:g.156705123T>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser656Pro	rs138664121	missense variant	-	NC_000003.12:g.156705123T>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu2Lys	rs1469957050	missense variant	-	NC_000003.12:g.156677701G>A	gnomAD
TIPARP	Q7Z3E1	p.Met3Ile	rs868515771	missense variant	-	NC_000003.12:g.156677706G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met3Val	rs1156974645	missense variant	-	NC_000003.12:g.156677704A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr6Ala	rs1401304502	missense variant	-	NC_000003.12:g.156677713A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr6Ile	rs781581358	missense variant	-	NC_000003.12:g.156677714C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu7Lys	rs770701311	missense variant	-	NC_000003.12:g.156677716G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro8Thr	rs778899104	missense variant	-	NC_000003.12:g.156677719C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu9Gln	rs546558483	missense variant	-	NC_000003.12:g.156677722G>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro10Leu	rs771541243	missense variant	-	NC_000003.12:g.156677726C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp11Glu	rs760946108	missense variant	-	NC_000003.12:g.156677730C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp11His	rs774941696	missense variant	-	NC_000003.12:g.156677728G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val13Ile	rs1232121372	missense variant	-	NC_000003.12:g.156677734G>A	gnomAD
TIPARP	Q7Z3E1	p.Val14Met	rs776153131	missense variant	-	NC_000003.12:g.156677737G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val14Leu	rs776153131	missense variant	-	NC_000003.12:g.156677737G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro19Ser	rs762231689	missense variant	-	NC_000003.12:g.156677752C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp21Gly	rs765576832	missense variant	-	NC_000003.12:g.156677759A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu31Gln	rs140846531	missense variant	-	NC_000003.12:g.156677788G>C	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile33Thr	rs1196989993	missense variant	-	NC_000003.12:g.156677795T>C	TOPMed
TIPARP	Q7Z3E1	p.Ile33Val	rs755118316	missense variant	-	NC_000003.12:g.156677794A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro35Gln	rs1165514996	missense variant	-	NC_000003.12:g.156677801C>A	gnomAD
TIPARP	Q7Z3E1	p.Leu36Phe	rs767777633	missense variant	-	NC_000003.12:g.156677805G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Cys39Arg	rs1490831364	missense variant	-	NC_000003.12:g.156677812T>C	TOPMed
TIPARP	Q7Z3E1	p.Cys39Tyr	rs1330694297	missense variant	-	NC_000003.12:g.156677813G>A	gnomAD
TIPARP	Q7Z3E1	p.Phe40Ser	rs369539588	missense variant	-	NC_000003.12:g.156677816T>C	ESP,TOPMed
TIPARP	Q7Z3E1	p.Lys42Glu	rs200349044	missense variant	-	NC_000003.12:g.156677821A>G	1000Genomes
TIPARP	Q7Z3E1	p.Lys42Arg	rs144427222	missense variant	-	NC_000003.12:g.156677822A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys43Arg	rs1413853265	missense variant	-	NC_000003.12:g.156677825A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp44Glu	rs778614554	missense variant	-	NC_000003.12:g.156677829T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp44Tyr	rs1314626498	missense variant	-	NC_000003.12:g.156677827G>T	TOPMed
TIPARP	Q7Z3E1	p.Asp44Val	rs757054333	missense variant	-	NC_000003.12:g.156677828A>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu53Val	rs1281827005	missense variant	-	NC_000003.12:g.156677854C>G	TOPMed
TIPARP	Q7Z3E1	p.Leu60Ile	rs1346761723	missense variant	-	NC_000003.12:g.156677875T>A	TOPMed
TIPARP	Q7Z3E1	p.Asn61Ser	rs1194403954	missense variant	-	NC_000003.12:g.156677879A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr62Ser	rs758283343	missense variant	-	NC_000003.12:g.156677882C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu64Ile	rs1255712431	missense variant	-	NC_000003.12:g.156677887C>A	gnomAD
TIPARP	Q7Z3E1	p.Leu69Pro	rs1331911830	missense variant	-	NC_000003.12:g.156677903T>C	gnomAD
TIPARP	Q7Z3E1	p.Asp70Gly	rs776332548	missense variant	-	NC_000003.12:g.156677906A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val72Ala	rs373659607	missense variant	-	NC_000003.12:g.156677912T>C	ESP
TIPARP	Q7Z3E1	p.Ser75Tyr	rs1367037499	missense variant	-	NC_000003.12:g.156677921C>A	gnomAD
TIPARP	Q7Z3E1	p.Gln78Arg	rs547183561	missense variant	-	NC_000003.12:g.156677930A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser79Thr	rs1414170718	missense variant	-	NC_000003.12:g.156677933G>C	TOPMed
TIPARP	Q7Z3E1	p.Thr80Ala	rs1433869787	missense variant	-	NC_000003.12:g.156677935A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp81Tyr	rs1427423976	missense variant	-	NC_000003.12:g.156677938G>T	TOPMed
TIPARP	Q7Z3E1	p.Glu82Asp	rs763428665	missense variant	-	NC_000003.12:g.156677943G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His86Arg	rs1356995828	missense variant	-	NC_000003.12:g.156677954A>G	gnomAD
TIPARP	Q7Z3E1	p.Pro88Ser	rs766929028	missense variant	-	NC_000003.12:g.156677959C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro88Thr	rs766929028	missense variant	-	NC_000003.12:g.156677959C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met89Val	rs568594097	missense variant	-	NC_000003.12:g.156677962A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met89Arg	rs1185862685	missense variant	-	NC_000003.12:g.156677963T>G	TOPMed
TIPARP	Q7Z3E1	p.Met94Arg	rs1225949830	missense variant	-	NC_000003.12:g.156677978T>G	gnomAD
TIPARP	Q7Z3E1	p.Ile96Val	rs767546856	missense variant	-	NC_000003.12:g.156677983A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn97His	rs1296705490	missense variant	-	NC_000003.12:g.156677986A>C	gnomAD
TIPARP	Q7Z3E1	p.Pro101Thr	rs1210646750	missense variant	-	NC_000003.12:g.156677998C>A	gnomAD
TIPARP	Q7Z3E1	p.Asn105Thr	rs750161818	missense variant	-	NC_000003.12:g.156678011A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn106Ser	rs758193176	missense variant	-	NC_000003.12:g.156678014A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met107Val	rs761597601	missense variant	-	NC_000003.12:g.156678016A>G	gnomAD
TIPARP	Q7Z3E1	p.Met107Thr	rs747004966	missense variant	-	NC_000003.12:g.156678017T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile111Leu	rs1324727307	missense variant	-	NC_000003.12:g.156678028A>C	TOPMed
TIPARP	Q7Z3E1	p.Asp113Asn	rs377432950	missense variant	-	NC_000003.12:g.156678034G>A	ESP,TOPMed
TIPARP	Q7Z3E1	p.Arg114Gly	rs1171574601	missense variant	-	NC_000003.12:g.156678037A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr115Ser	rs1364672501	missense variant	-	NC_000003.12:g.156678040A>T	TOPMed
TIPARP	Q7Z3E1	p.Thr115Arg	rs1270890303	missense variant	-	NC_000003.12:g.156678041C>G	TOPMed
TIPARP	Q7Z3E1	p.Asn116Asp	rs780604647	missense variant	-	NC_000003.12:g.156678043A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn116Ser	rs1466292816	missense variant	-	NC_000003.12:g.156678044A>G	gnomAD
TIPARP	Q7Z3E1	p.Val117Ala	rs868513491	missense variant	-	NC_000003.12:g.156678047T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly118Glu	rs1338961044	missense variant	-	NC_000003.12:g.156678050G>A	TOPMed
TIPARP	Q7Z3E1	p.Asp119Gly	rs1298308351	missense variant	-	NC_000003.12:g.156678053A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp119Val	rs1298308351	missense variant	-	NC_000003.12:g.156678053A>T	gnomAD
TIPARP	Q7Z3E1	p.Asp119Asn	rs747722067	missense variant	-	NC_000003.12:g.156678052G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile121Thr	rs201782670	missense variant	-	NC_000003.12:g.156678059T>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile121Met	rs1233983933	missense variant	-	NC_000003.12:g.156678060A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile121Lys	rs201782670	missense variant	-	NC_000003.12:g.156678059T>A	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro122Thr	rs1301783177	missense variant	-	NC_000003.12:g.156678061C>A	gnomAD
TIPARP	Q7Z3E1	p.Pro122Leu	rs772928271	missense variant	-	NC_000003.12:g.156678062C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu123Lys	rs1260370769	missense variant	-	NC_000003.12:g.156678064G>A	gnomAD
TIPARP	Q7Z3E1	p.His125Asp	rs774980008	missense variant	-	NC_000003.12:g.156678070C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His125Arg	rs1248543218	missense variant	-	NC_000003.12:g.156678071A>G	gnomAD
TIPARP	Q7Z3E1	p.Pro126Ser	rs757036019	missense variant	-	NC_000003.12:g.156678073C>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser127Pro	rs1191510420	missense variant	-	NC_000003.12:g.156678076T>C	gnomAD
TIPARP	Q7Z3E1	p.Arg133Gln	rs147956353	missense variant	-	NC_000003.12:g.156678095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Ter	rs569197742	stop gained	-	NC_000003.12:g.156678094C>T	1000Genomes,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Gly	rs569197742	missense variant	-	NC_000003.12:g.156678094C>G	1000Genomes,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Leu	rs147956353	missense variant	-	NC_000003.12:g.156678095G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val135Ile	rs1361728193	missense variant	-	NC_000003.12:g.156678100G>A	gnomAD
TIPARP	Q7Z3E1	p.Pro136Ser	rs558453273	missense variant	-	NC_000003.12:g.156678103C>T	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro136Arg	rs140235972	missense variant	-	NC_000003.12:g.156678104C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro136Gln	rs140235972	missense variant	-	NC_000003.12:g.156678104C>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln138Arg	rs1461451634	missense variant	-	NC_000003.12:g.156678110A>G	TOPMed
TIPARP	Q7Z3E1	p.Asp139Val	rs1251155796	missense variant	-	NC_000003.12:g.156678113A>T	TOPMed
TIPARP	Q7Z3E1	p.His140Gln	rs570398140	missense variant	-	NC_000003.12:g.156678117C>A	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.His140Pro	rs1056511062	missense variant	-	NC_000003.12:g.156678116A>C	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Asn	rs1188346646	missense variant	-	NC_000003.12:g.156678115C>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Arg	rs1056511062	missense variant	-	NC_000003.12:g.156678116A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Asp	rs1188346646	missense variant	-	NC_000003.12:g.156678115C>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe142Ser	rs754124618	missense variant	-	NC_000003.12:g.156678122T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro143Ala	rs762723611	missense variant	-	NC_000003.12:g.156678124C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser144Pro	rs766210307	missense variant	-	NC_000003.12:g.156678127T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu145Gly	rs1435480214	missense variant	-	NC_000003.12:g.156678131A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr146Ile	rs1306496410	missense variant	-	NC_000003.12:g.156678134C>T	gnomAD
TIPARP	Q7Z3E1	p.Leu147Phe	rs371094017	missense variant	-	NC_000003.12:g.156678136C>T	ESP,ExAC,TOPMed
TIPARP	Q7Z3E1	p.Leu147His	rs752087020	missense variant	-	NC_000003.12:g.156678137T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser148Arg	rs1268917045	missense variant	-	NC_000003.12:g.156678141T>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly149Glu	rs1297430382	missense variant	-	NC_000003.12:g.156678143G>A	TOPMed
TIPARP	Q7Z3E1	p.Thr150Met	rs755720358	missense variant	-	NC_000003.12:g.156678146C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ala152Ser	rs534523851	missense variant	-	NC_000003.12:g.156678151G>T	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser154Cys	rs375315846	missense variant	-	NC_000003.12:g.156678158C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr155Ala	rs779381790	missense variant	-	NC_000003.12:g.156678160A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro156Leu	rs746258116	missense variant	-	NC_000003.12:g.156678164C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His158Arg	rs772403493	missense variant	-	NC_000003.12:g.156678170A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe159Ser	rs1459421210	missense variant	-	NC_000003.12:g.156678173T>C	gnomAD
TIPARP	Q7Z3E1	p.Phe159Leu	rs200200707	missense variant	-	NC_000003.12:g.156678174C>G	TOPMed
TIPARP	Q7Z3E1	p.Thr161Ser	rs994568863	missense variant	-	NC_000003.12:g.156678179C>G	TOPMed
TIPARP	Q7Z3E1	p.Leu163Val	rs776070977	missense variant	-	NC_000003.12:g.156678184C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu163Ile	rs776070977	missense variant	-	NC_000003.12:g.156678184C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu164Ser	rs1222441797	missense variant	-	NC_000003.12:g.156678188T>C	TOPMed
TIPARP	Q7Z3E1	p.Val167Phe	rs1371447209	missense variant	-	NC_000003.12:g.156678196G>T	gnomAD
TIPARP	Q7Z3E1	p.Ser168Leu	rs776811846	missense variant	-	NC_000003.12:g.156678200C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp170Val	rs765471373	missense variant	-	NC_000003.12:g.156678206A>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro175Leu	rs751301965	missense variant	-	NC_000003.12:g.156678221C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu178Val	rs759385620	missense variant	-	NC_000003.12:g.156678229T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp179Gly	rs767287641	missense variant	-	NC_000003.12:g.156678233A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys180Arg	rs372015234	missense variant	-	NC_000003.12:g.156678236A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys180Thr	rs372015234	missense variant	-	NC_000003.12:g.156678236A>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val181Ile	rs755559962	missense variant	-	NC_000003.12:g.156678238G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile182Val	rs140976569	missense variant	-	NC_000003.12:g.156678241A>G	ESP
TIPARP	Q7Z3E1	p.Tyr184Asp	rs777469638	missense variant	-	NC_000003.12:g.156678247T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Tyr184Cys	rs1182371185	missense variant	-	NC_000003.12:g.156678248A>G	gnomAD
TIPARP	Q7Z3E1	p.Ser193Gly	rs1473913455	missense variant	-	NC_000003.12:g.156678274A>G	gnomAD
TIPARP	Q7Z3E1	p.Phe194Ser	rs1189500859	missense variant	-	NC_000003.12:g.156678278T>C	gnomAD
TIPARP	Q7Z3E1	p.Ile196Val	rs150223955	missense variant	-	NC_000003.12:g.156678283A>G	ESP,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln197Arg	rs1170168644	missense variant	-	NC_000003.12:g.156678287A>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr198Cys	rs746154012	missense variant	-	NC_000003.12:g.156678290A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr198His	rs1165006151	missense variant	-	NC_000003.12:g.156678289T>C	TOPMed
TIPARP	Q7Z3E1	p.Ile199Thr	rs1308823808	missense variant	-	NC_000003.12:g.156678293T>C	gnomAD
TIPARP	Q7Z3E1	p.Asp201His	rs772553375	missense variant	-	NC_000003.12:g.156678298G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr202Pro	rs747599850	missense variant	-	NC_000003.12:g.156678301A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr202Ala	rs747599850	missense variant	-	NC_000003.12:g.156678301A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser203Thr	rs768586185	missense variant	-	NC_000003.12:g.156678305G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu210Val	rs1293361007	missense variant	-	NC_000003.12:g.156678325C>G	gnomAD
TIPARP	Q7Z3E1	p.Gln212Arg	rs1343992691	missense variant	-	NC_000003.12:g.156678332A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln212Leu	rs1343992691	missense variant	-	NC_000003.12:g.156678332A>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp213Asn	rs201843889	missense variant	-	NC_000003.12:g.156678334G>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu217Asp	rs1279139901	missense variant	-	NC_000003.12:g.156678348G>C	gnomAD
TIPARP	Q7Z3E1	p.Ala218Ser	rs1484506901	missense variant	-	NC_000003.12:g.156678349G>T	gnomAD
TIPARP	Q7Z3E1	p.Leu222Phe	rs773424243	missense variant	-	NC_000003.12:g.156678361C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val223Met	rs759242586	missense variant	-	NC_000003.12:g.156678364G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu225Gln	rs758347957	missense variant	-	NC_000003.12:g.156678370G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His235Arg	rs983254095	missense variant	-	NC_000003.12:g.156678401A>G	TOPMed
TIPARP	Q7Z3E1	p.Glu237Ala	rs1336416903	missense variant	-	NC_000003.12:g.156678407A>C	gnomAD
TIPARP	Q7Z3E1	p.Asn238Asp	rs140486151	missense variant	-	NC_000003.12:g.156678409A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met244Thr	rs1317726110	missense variant	-	NC_000003.12:g.156678428T>C	TOPMed
TIPARP	Q7Z3E1	p.Met244Val	rs1430147291	missense variant	-	NC_000003.12:g.156678427A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln248Arg	rs753340986	missense variant	-	NC_000003.12:g.156678440A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gly249Asp	rs756834863	missense variant	-	NC_000003.12:g.156678443G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr250Ser	rs764978014	missense variant	-	NC_000003.12:g.156678446C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr250Ile	rs764978014	missense variant	-	NC_000003.12:g.156678446C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile252Met	rs201976652	missense variant	-	NC_000003.12:g.156678453T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg255Gly	rs758666395	missense variant	-	NC_000003.12:g.156678460A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp256Gly	rs747363738	missense variant	-	NC_000003.12:g.156678464A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp256Glu	rs1466691731	missense variant	-	NC_000003.12:g.156678465T>G	gnomAD
TIPARP	Q7Z3E1	p.Asp256Tyr	rs779765422	missense variant	-	NC_000003.12:g.156678463G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu258Phe	rs1189598175	missense variant	-	NC_000003.12:g.156678471G>T	gnomAD
TIPARP	Q7Z3E1	p.Lys259Arg	rs1286559879	missense variant	-	NC_000003.12:g.156678473A>G	TOPMed
TIPARP	Q7Z3E1	p.Ile270Met	rs781670937	missense variant	-	NC_000003.12:g.156678507C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Lys271Gln	rs1426168303	missense variant	-	NC_000003.12:g.156678508A>C	gnomAD
TIPARP	Q7Z3E1	p.Arg272Gly	rs748156388	missense variant	-	NC_000003.12:g.156678511A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg272Ser	rs746495291	missense variant	-	NC_000003.12:g.156678513G>C	TOPMed
TIPARP	Q7Z3E1	p.Thr273Ser	rs1489734415	missense variant	-	NC_000003.12:g.156678514A>T	gnomAD
TIPARP	Q7Z3E1	p.Thr273Ile	rs1479652371	missense variant	-	NC_000003.12:g.156678515C>T	TOPMed
TIPARP	Q7Z3E1	p.Ser280Asn	rs1438383637	missense variant	-	NC_000003.12:g.156678536G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe282Val	rs1428394274	missense variant	-	NC_000003.12:g.156678541T>G	TOPMed
TIPARP	Q7Z3E1	p.Asn283Ser	rs145662613	missense variant	-	NC_000003.12:g.156678545A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn283Ile	rs145662613	missense variant	-	NC_000003.12:g.156678545A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser285Phe	rs947722121	missense variant	-	NC_000003.12:g.156678551C>T	gnomAD
TIPARP	Q7Z3E1	p.Cys294Gly	rs775306797	missense variant	-	NC_000003.12:g.156678577T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn295Asp	rs138118991	missense variant	-	NC_000003.12:g.156678580A>G	1000Genomes,ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp299Gly	rs149538633	missense variant	-	NC_000003.12:g.156678593A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys304Asn	rs776778193	missense variant	-	NC_000003.12:g.156678609G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr305Ser	rs35768405	missense variant	-	NC_000003.12:g.156678611A>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr305Cys	rs35768405	missense variant	-	NC_000003.12:g.156678611A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly307Glu	rs1390490421	missense variant	-	NC_000003.12:g.156694022G>A	gnomAD
TIPARP	Q7Z3E1	p.Glu309Ala	rs1240885572	missense variant	-	NC_000003.12:g.156694028A>C	TOPMed
TIPARP	Q7Z3E1	p.Asp313Glu	rs1173472969	missense variant	-	NC_000003.12:g.156694041T>G	gnomAD
TIPARP	Q7Z3E1	p.Ala316Val	rs1379031614	missense variant	-	NC_000003.12:g.156694049C>T	gnomAD
TIPARP	Q7Z3E1	p.Met317Leu	rs1466086841	missense variant	-	NC_000003.12:g.156694051A>C	gnomAD
TIPARP	Q7Z3E1	p.Val319Leu	rs768539321	missense variant	-	NC_000003.12:g.156694057G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val319Met	rs768539321	missense variant	-	NC_000003.12:g.156694057G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Tyr320Cys	rs769711462	missense variant	-	NC_000003.12:g.156694061A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr323Asn	rs773024103	missense variant	-	NC_000003.12:g.156694070C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln327Lys	rs762517684	missense variant	-	NC_000003.12:g.156694081C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln327Glu	rs762517684	missense variant	-	NC_000003.12:g.156694081C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln327His	rs770403066	missense variant	-	NC_000003.12:g.156694083A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser332Cys	rs1210445105	missense variant	-	NC_000003.12:g.156694097C>G	gnomAD
TIPARP	Q7Z3E1	p.Ser336Phe	rs761032073	missense variant	-	NC_000003.12:g.156694109C>T	ExAC
TIPARP	Q7Z3E1	p.Ser336Ala	rs1467830652	missense variant	-	NC_000003.12:g.156694108T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn338Ser	rs148252230	missense variant	-	NC_000003.12:g.156694115A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn340Ser	rs1036522422	missense variant	-	NC_000003.12:g.156694121A>G	-
TIPARP	Q7Z3E1	p.Ser341Cys	rs1409042958	missense variant	-	NC_000003.12:g.156694124C>G	gnomAD
TIPARP	Q7Z3E1	p.Ile342Val	rs200857296	missense variant	-	NC_000003.12:g.156694126A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val346Leu	rs200119519	missense variant	-	NC_000003.12:g.156694138G>C	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe349Cys	rs1457691071	missense variant	-	NC_000003.12:g.156694148T>G	gnomAD
TIPARP	Q7Z3E1	p.Arg358Thr	rs750560844	missense variant	-	NC_000003.12:g.156694175G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu359Ala	rs1425278368	missense variant	-	NC_000003.12:g.156694178A>C	gnomAD
TIPARP	Q7Z3E1	p.Pro361Arg	rs1387504652	missense variant	-	NC_000003.12:g.156694184C>G	gnomAD
TIPARP	Q7Z3E1	p.Pro361Ser	rs141280180	missense variant	-	NC_000003.12:g.156694183C>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro361Ala	rs141280180	missense variant	-	NC_000003.12:g.156694183C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu362Lys	rs150739414	missense variant	-	NC_000003.12:g.156694186G>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile365Val	rs139609776	missense variant	-	NC_000003.12:g.156695871A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg366Gly	rs778830481	missense variant	-	NC_000003.12:g.156695874C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg366Leu	rs745377501	missense variant	-	NC_000003.12:g.156695875G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg366Gln	rs745377501	missense variant	-	NC_000003.12:g.156695875G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu369Ala	rs1390721044	missense variant	-	NC_000003.12:g.156695884A>C	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu369Ter	rs1331757567	stop gained	-	NC_000003.12:g.156695883G>T	TOPMed
TIPARP	Q7Z3E1	p.Ala371Thr	rs1168397565	missense variant	-	NC_000003.12:g.156695889G>A	gnomAD
TIPARP	Q7Z3E1	p.Asn372His	rs746682952	missense variant	-	NC_000003.12:g.156695892A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn372Thr	rs143409745	missense variant	-	NC_000003.12:g.156695893A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn372Ser	rs143409745	missense variant	-	NC_000003.12:g.156695893A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser373Pro	rs762251916	missense variant	-	NC_000003.12:g.156695895T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser373Phe	rs1358581953	missense variant	-	NC_000003.12:g.156695896C>T	gnomAD
TIPARP	Q7Z3E1	p.Arg374Trp	rs201159091	missense variant	-	NC_000003.12:g.156695898C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg374Gln	rs773919171	missense variant	-	NC_000003.12:g.156695899G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly375Cys	rs1379855861	missense variant	-	NC_000003.12:g.156695901G>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu376Pro	rs763107741	missense variant	-	NC_000003.12:g.156695905T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu378Ala	rs766612770	missense variant	-	NC_000003.12:g.156695911A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg380Gln	rs1302605426	missense variant	-	NC_000003.12:g.156695917G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe381Ser	rs147143306	missense variant	-	NC_000003.12:g.156695920T>C	ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Trp384Cys	rs552678860	missense variant	-	NC_000003.12:g.156695930G>T	gnomAD
TIPARP	Q7Z3E1	p.Asn385Asp	rs1380989916	missense variant	-	NC_000003.12:g.156695931A>G	gnomAD
TIPARP	Q7Z3E1	p.Asn386Lys	rs1309888637	missense variant	-	NC_000003.12:g.156695936C>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr388Cys	rs1239696007	missense variant	-	NC_000003.12:g.156695941A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile389Val	rs767797746	missense variant	-	NC_000003.12:g.156695943A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu390Arg	rs1437753614	missense variant	-	NC_000003.12:g.156695947T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His391Arg	rs753513614	missense variant	-	NC_000003.12:g.156695950A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn392Ser	rs757147574	missense variant	-	NC_000003.12:g.156695953A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg396Gly	rs757874481	missense variant	-	NC_000003.12:g.156695964A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg397Ser	rs779496951	missense variant	-	NC_000003.12:g.156695969A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg397Gly	rs1221148557	missense variant	-	NC_000003.12:g.156695967A>G	TOPMed
TIPARP	Q7Z3E1	p.Glu398Asp	rs746549290	missense variant	-	NC_000003.12:g.156695972G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile399Thr	rs768134379	missense variant	-	NC_000003.12:g.156695974T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile399Arg	rs768134379	missense variant	-	NC_000003.12:g.156695974T>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro403Ser	rs1362884365	missense variant	-	NC_000003.12:g.156695985C>T	TOPMed
TIPARP	Q7Z3E1	p.Phe405Leu	rs770336627	missense variant	-	NC_000003.12:g.156695993C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406Ser	rs17854621	missense variant	-	NC_000003.12:g.156695994C>A	UniProt,dbSNP
TIPARP	Q7Z3E1	p.Arg406Ser	VAR_027155	missense variant	-	NC_000003.12:g.156695994C>A	UniProt
TIPARP	Q7Z3E1	p.Arg406Ser	rs17854621	missense variant	-	NC_000003.12:g.156695994C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406Leu	rs771589802	missense variant	-	NC_000003.12:g.156695995G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg406His	rs771589802	missense variant	-	NC_000003.12:g.156695995G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg406Cys	rs17854621	missense variant	-	NC_000003.12:g.156695994C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe409Tyr	rs774240678	missense variant	-	NC_000003.12:g.156696004T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe409Ile	rs1435577851	missense variant	-	NC_000003.12:g.156696003T>A	gnomAD
TIPARP	Q7Z3E1	p.Leu412His	rs1278786503	missense variant	-	NC_000003.12:g.156696013T>A	gnomAD
TIPARP	Q7Z3E1	p.Leu412Phe	rs140142843	missense variant	-	NC_000003.12:g.156696012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val421Phe	rs1162604065	missense variant	-	NC_000003.12:g.156703437G>T	gnomAD
TIPARP	Q7Z3E1	p.Pro422Ser	rs749686048	missense variant	-	NC_000003.12:g.156703440C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro422Thr	rs749686048	missense variant	-	NC_000003.12:g.156703440C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro422Ala	rs749686048	missense variant	-	NC_000003.12:g.156703440C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ala425Gly	rs772247182	missense variant	-	NC_000003.12:g.156703450C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ala425Pro	rs200460123	missense variant	-	NC_000003.12:g.156703449G>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro426Ser	rs1289740413	missense variant	-	NC_000003.12:g.156703452C>T	gnomAD
TIPARP	Q7Z3E1	p.Pro428Ser	rs774571724	missense variant	-	NC_000003.12:g.156703458C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro428Arg	rs760849853	missense variant	-	NC_000003.12:g.156703459C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu429Val	rs1202254748	missense variant	-	NC_000003.12:g.156703461C>G	TOPMed
TIPARP	Q7Z3E1	p.Ala431Val	rs764320963	missense variant	-	NC_000003.12:g.156703468C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser435Pro	rs1482892663	missense variant	-	NC_000003.12:g.156703479T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly442Glu	rs1276018525	missense variant	-	NC_000003.12:g.156703501G>A	TOPMed
TIPARP	Q7Z3E1	p.Asn447Asp	rs201451219	missense variant	-	NC_000003.12:g.156703515A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn447His	rs201451219	missense variant	-	NC_000003.12:g.156703515A>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe448Leu	rs1389152742	missense variant	-	NC_000003.12:g.156703518T>C	gnomAD
TIPARP	Q7Z3E1	p.Tyr449His	rs912606472	missense variant	-	NC_000003.12:g.156703521T>C	TOPMed
TIPARP	Q7Z3E1	p.Val454Phe	rs1334810026	missense variant	-	NC_000003.12:g.156703536G>T	TOPMed
TIPARP	Q7Z3E1	p.Met456Val	rs752284660	missense variant	-	NC_000003.12:g.156703542A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln460Arg	rs1471030817	missense variant	-	NC_000003.12:g.156703555A>G	TOPMed
TIPARP	Q7Z3E1	p.Ile463Val	rs942689983	missense variant	-	NC_000003.12:g.156703563A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile463Met	rs1334055498	missense variant	-	NC_000003.12:g.156703565C>G	gnomAD
TIPARP	Q7Z3E1	p.Pro466Arg	rs1450634187	missense variant	-	NC_000003.12:g.156703573C>G	gnomAD
TIPARP	Q7Z3E1	p.Val467Ile	rs777573979	missense variant	-	NC_000003.12:g.156703575G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val467Leu	rs777573979	missense variant	-	NC_000003.12:g.156703575G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys472Glu	rs757698240	missense variant	-	NC_000003.12:g.156703590A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser473Asn	rs1226375510	missense variant	-	NC_000003.12:g.156703594G>A	gnomAD
TIPARP	Q7Z3E1	p.Arg475Trp	rs150068199	missense variant	-	NC_000003.12:g.156703599C>T	ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn479Ser	rs145315559	missense variant	-	NC_000003.12:g.156703612A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu487Asp	rs370596394	missense variant	-	NC_000003.12:g.156703637G>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys489Gln	rs747102891	missense variant	-	NC_000003.12:g.156703641A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu493Phe	rs776902281	missense variant	-	NC_000003.12:g.156703655G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln494His	rs762719514	missense variant	-	NC_000003.12:g.156703658G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu496Ser	rs774124108	missense variant	-	NC_000003.12:g.156703663T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Lys506Arg	rs184863885	missense variant	-	NC_000003.12:g.156703693A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys508Arg	rs752190385	missense variant	-	NC_000003.12:g.156703699A>G	ExAC,TOPMed
TIPARP	Q7Z3E1	p.Glu512Asp	rs140631438	missense variant	-	NC_000003.12:g.156704693A>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe519Ser	rs1261037745	missense variant	-	NC_000003.12:g.156704713T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly520Asp	rs1488040531	missense variant	-	NC_000003.12:g.156704716G>A	gnomAD
TIPARP	Q7Z3E1	p.Arg521Cys	rs146547620	missense variant	-	NC_000003.12:g.156704718C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg521His	rs199568062	missense variant	-	NC_000003.12:g.156704719G>A	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg521Ser	rs146547620	missense variant	-	NC_000003.12:g.156704718C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp522Glu	rs745663982	missense variant	-	NC_000003.12:g.156704723C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp522Tyr	rs963750734	missense variant	-	NC_000003.12:g.156704721G>T	gnomAD
TIPARP	Q7Z3E1	p.Asp522Gly	rs1321219131	missense variant	-	NC_000003.12:g.156704722A>G	TOPMed
TIPARP	Q7Z3E1	p.Arg523Trp	rs145937401	missense variant	-	NC_000003.12:g.156704724A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg523Gly	rs145937401	missense variant	-	NC_000003.12:g.156704724A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg523Lys	rs775538386	missense variant	-	NC_000003.12:g.156704725G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile524Val	rs1390872537	missense variant	-	NC_000003.12:g.156704727A>G	TOPMed
TIPARP	Q7Z3E1	p.Asn526Ser	rs150170944	missense variant	-	NC_000003.12:g.156704734A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser535Cys	rs776226052	missense variant	-	NC_000003.12:g.156704761C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp537Val	rs1183347333	missense variant	-	NC_000003.12:g.156704767A>T	TOPMed
TIPARP	Q7Z3E1	p.Asp537His	rs1291975962	missense variant	-	NC_000003.12:g.156704766G>C	gnomAD
TIPARP	Q7Z3E1	p.Lys544Arg	rs1477929991	missense variant	-	NC_000003.12:g.156704788A>G	TOPMed
TIPARP	Q7Z3E1	p.Asn546Ser	rs764935974	missense variant	-	NC_000003.12:g.156704794A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His555Arg	rs763349428	missense variant	-	NC_000003.12:g.156704821A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met558Val	rs766769030	missense variant	-	NC_000003.12:g.156704829A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met558Thr	rs368152871	missense variant	-	NC_000003.12:g.156704830T>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met558Ile	rs1242403472	missense variant	-	NC_000003.12:g.156704831G>A	gnomAD
TIPARP	Q7Z3E1	p.Gln561His	rs973547078	missense variant	-	NC_000003.12:g.156704840A>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn574Tyr	rs755428022	missense variant	-	NC_000003.12:g.156704877A>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser576Ala	rs1438174539	missense variant	-	NC_000003.12:g.156704883T>G	TOPMed
TIPARP	Q7Z3E1	p.Lys577Glu	rs1204016670	missense variant	-	NC_000003.12:g.156704886A>G	gnomAD
TIPARP	Q7Z3E1	p.Ser580Pro	rs1331122196	missense variant	-	NC_000003.12:g.156704895T>C	TOPMed
TIPARP	Q7Z3E1	p.Gly582Ala	rs1319292966	missense variant	-	NC_000003.12:g.156704902G>C	TOPMed
TIPARP	Q7Z3E1	p.Val583Asp	rs752819159	missense variant	-	NC_000003.12:g.156704905T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe585Leu	rs1455252651	missense variant	-	NC_000003.12:g.156704910T>C	TOPMed
TIPARP	Q7Z3E1	p.Thr593Met	rs1163198135	missense variant	-	NC_000003.12:g.156704935C>T	gnomAD
TIPARP	Q7Z3E1	p.Arg595Lys	rs1168206881	missense variant	-	NC_000003.12:g.156704941G>A	gnomAD
TIPARP	Q7Z3E1	p.Thr597Ala	rs749512926	missense variant	-	NC_000003.12:g.156704946A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Thr	rs746816452	missense variant	-	NC_000003.12:g.156704950T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met598Val	rs771313745	missense variant	-	NC_000003.12:g.156704949A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Leu	rs771313745	missense variant	-	NC_000003.12:g.156704949A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser600Cys	rs1394066979	missense variant	-	NC_000003.12:g.156704955A>T	gnomAD
TIPARP	Q7Z3E1	p.Ser600Thr	rs1316971743	missense variant	-	NC_000003.12:g.156704956G>C	gnomAD
TIPARP	Q7Z3E1	p.His601Tyr	rs761369679	missense variant	-	NC_000003.12:g.156704958C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly602Ala	rs1174463849	missense variant	-	NC_000003.12:g.156704962G>C	TOPMed
TIPARP	Q7Z3E1	p.Arg605Ser	rs762552988	missense variant	-	NC_000003.12:g.156704972G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg605Ser	rs762552988	missense variant	-	NC_000003.12:g.156704972G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro606Leu	rs267599664	missense variant	-	NC_000003.12:g.156704974C>T	-
TIPARP	Q7Z3E1	p.Val609Ile	rs759897350	missense variant	-	NC_000003.12:g.156704982G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val609Leu	rs759897350	missense variant	-	NC_000003.12:g.156704982G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn610Asp	rs753194812	missense variant	-	NC_000003.12:g.156704985A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn610Ser	rs540401885	missense variant	-	NC_000003.12:g.156704986A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro611Thr	rs764041948	missense variant	-	NC_000003.12:g.156704988C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gly612Asp	rs1229894784	missense variant	-	NC_000003.12:g.156704992G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly612Val	rs1229894784	missense variant	-	NC_000003.12:g.156704992G>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser613Gly	rs1276262331	missense variant	-	NC_000003.12:g.156704994A>G	TOPMed
TIPARP	Q7Z3E1	p.Thr615Ala	rs1411701037	missense variant	-	NC_000003.12:g.156705000A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp617Asn	rs757500372	missense variant	-	NC_000003.12:g.156705006G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile634Val	rs1291859416	missense variant	-	NC_000003.12:g.156705057A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile634Leu	rs1291859416	missense variant	-	NC_000003.12:g.156705057A>C	gnomAD
TIPARP	Q7Z3E1	p.Phe644Cys	rs781163882	missense variant	-	NC_000003.12:g.156705088T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile646Val	rs1366765234	missense variant	-	NC_000003.12:g.156705093A>G	TOPMed
TIPARP	Q7Z3E1	p.Ser652Gly	rs772548229	missense variant	-	NC_000003.12:g.156705111A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser652Arg	rs772548229	missense variant	-	NC_000003.12:g.156705111A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn653Ser	rs748808261	missense variant	-	NC_000003.12:g.156705115A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr654Ala	rs1266929320	missense variant	-	NC_000003.12:g.156705117A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser656Thr	rs138664121	missense variant	-	NC_000003.12:g.156705123T>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser656Pro	rs138664121	missense variant	-	NC_000003.12:g.156705123T>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu2Lys	rs1469957050	missense variant	-	NC_000003.12:g.156677701G>A	gnomAD
TIPARP	Q7Z3E1	p.Met3Ile	rs868515771	missense variant	-	NC_000003.12:g.156677706G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met3Val	rs1156974645	missense variant	-	NC_000003.12:g.156677704A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr6Ala	rs1401304502	missense variant	-	NC_000003.12:g.156677713A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr6Ile	rs781581358	missense variant	-	NC_000003.12:g.156677714C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu7Lys	rs770701311	missense variant	-	NC_000003.12:g.156677716G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro8Thr	rs778899104	missense variant	-	NC_000003.12:g.156677719C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu9Gln	rs546558483	missense variant	-	NC_000003.12:g.156677722G>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro10Leu	rs771541243	missense variant	-	NC_000003.12:g.156677726C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp11Glu	rs760946108	missense variant	-	NC_000003.12:g.156677730C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp11His	rs774941696	missense variant	-	NC_000003.12:g.156677728G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val13Ile	rs1232121372	missense variant	-	NC_000003.12:g.156677734G>A	gnomAD
TIPARP	Q7Z3E1	p.Val14Met	rs776153131	missense variant	-	NC_000003.12:g.156677737G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val14Leu	rs776153131	missense variant	-	NC_000003.12:g.156677737G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro19Ser	rs762231689	missense variant	-	NC_000003.12:g.156677752C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp21Gly	rs765576832	missense variant	-	NC_000003.12:g.156677759A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu31Gln	rs140846531	missense variant	-	NC_000003.12:g.156677788G>C	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile33Val	rs755118316	missense variant	-	NC_000003.12:g.156677794A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile33Thr	rs1196989993	missense variant	-	NC_000003.12:g.156677795T>C	TOPMed
TIPARP	Q7Z3E1	p.Pro35Gln	rs1165514996	missense variant	-	NC_000003.12:g.156677801C>A	gnomAD
TIPARP	Q7Z3E1	p.Leu36Phe	rs767777633	missense variant	-	NC_000003.12:g.156677805G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Cys39Tyr	rs1330694297	missense variant	-	NC_000003.12:g.156677813G>A	gnomAD
TIPARP	Q7Z3E1	p.Cys39Arg	rs1490831364	missense variant	-	NC_000003.12:g.156677812T>C	TOPMed
TIPARP	Q7Z3E1	p.Phe40Ser	rs369539588	missense variant	-	NC_000003.12:g.156677816T>C	ESP,TOPMed
TIPARP	Q7Z3E1	p.Lys42Arg	rs144427222	missense variant	-	NC_000003.12:g.156677822A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys42Glu	rs200349044	missense variant	-	NC_000003.12:g.156677821A>G	1000Genomes
TIPARP	Q7Z3E1	p.Lys43Arg	rs1413853265	missense variant	-	NC_000003.12:g.156677825A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp44Val	rs757054333	missense variant	-	NC_000003.12:g.156677828A>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp44Glu	rs778614554	missense variant	-	NC_000003.12:g.156677829T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp44Tyr	rs1314626498	missense variant	-	NC_000003.12:g.156677827G>T	TOPMed
TIPARP	Q7Z3E1	p.Leu53Val	rs1281827005	missense variant	-	NC_000003.12:g.156677854C>G	TOPMed
TIPARP	Q7Z3E1	p.Leu60Ile	rs1346761723	missense variant	-	NC_000003.12:g.156677875T>A	TOPMed
TIPARP	Q7Z3E1	p.Asn61Ser	rs1194403954	missense variant	-	NC_000003.12:g.156677879A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr62Ser	rs758283343	missense variant	-	NC_000003.12:g.156677882C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu64Ile	rs1255712431	missense variant	-	NC_000003.12:g.156677887C>A	gnomAD
TIPARP	Q7Z3E1	p.Leu69Pro	rs1331911830	missense variant	-	NC_000003.12:g.156677903T>C	gnomAD
TIPARP	Q7Z3E1	p.Asp70Gly	rs776332548	missense variant	-	NC_000003.12:g.156677906A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val72Ala	rs373659607	missense variant	-	NC_000003.12:g.156677912T>C	ESP
TIPARP	Q7Z3E1	p.Ser75Tyr	rs1367037499	missense variant	-	NC_000003.12:g.156677921C>A	gnomAD
TIPARP	Q7Z3E1	p.Gln78Arg	rs547183561	missense variant	-	NC_000003.12:g.156677930A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser79Thr	rs1414170718	missense variant	-	NC_000003.12:g.156677933G>C	TOPMed
TIPARP	Q7Z3E1	p.Thr80Ala	rs1433869787	missense variant	-	NC_000003.12:g.156677935A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp81Tyr	rs1427423976	missense variant	-	NC_000003.12:g.156677938G>T	TOPMed
TIPARP	Q7Z3E1	p.Glu82Asp	rs763428665	missense variant	-	NC_000003.12:g.156677943G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His86Arg	rs1356995828	missense variant	-	NC_000003.12:g.156677954A>G	gnomAD
TIPARP	Q7Z3E1	p.Pro88Ser	rs766929028	missense variant	-	NC_000003.12:g.156677959C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro88Thr	rs766929028	missense variant	-	NC_000003.12:g.156677959C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met89Val	rs568594097	missense variant	-	NC_000003.12:g.156677962A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met89Arg	rs1185862685	missense variant	-	NC_000003.12:g.156677963T>G	TOPMed
TIPARP	Q7Z3E1	p.Met94Arg	rs1225949830	missense variant	-	NC_000003.12:g.156677978T>G	gnomAD
TIPARP	Q7Z3E1	p.Ile96Val	rs767546856	missense variant	-	NC_000003.12:g.156677983A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn97His	rs1296705490	missense variant	-	NC_000003.12:g.156677986A>C	gnomAD
TIPARP	Q7Z3E1	p.Pro101Thr	rs1210646750	missense variant	-	NC_000003.12:g.156677998C>A	gnomAD
TIPARP	Q7Z3E1	p.Asn105Thr	rs750161818	missense variant	-	NC_000003.12:g.156678011A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn106Ser	rs758193176	missense variant	-	NC_000003.12:g.156678014A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met107Thr	rs747004966	missense variant	-	NC_000003.12:g.156678017T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met107Val	rs761597601	missense variant	-	NC_000003.12:g.156678016A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile111Leu	rs1324727307	missense variant	-	NC_000003.12:g.156678028A>C	TOPMed
TIPARP	Q7Z3E1	p.Asp113Asn	rs377432950	missense variant	-	NC_000003.12:g.156678034G>A	ESP,TOPMed
TIPARP	Q7Z3E1	p.Arg114Gly	rs1171574601	missense variant	-	NC_000003.12:g.156678037A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr115Ser	rs1364672501	missense variant	-	NC_000003.12:g.156678040A>T	TOPMed
TIPARP	Q7Z3E1	p.Thr115Arg	rs1270890303	missense variant	-	NC_000003.12:g.156678041C>G	TOPMed
TIPARP	Q7Z3E1	p.Asn116Asp	rs780604647	missense variant	-	NC_000003.12:g.156678043A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn116Ser	rs1466292816	missense variant	-	NC_000003.12:g.156678044A>G	gnomAD
TIPARP	Q7Z3E1	p.Val117Ala	rs868513491	missense variant	-	NC_000003.12:g.156678047T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly118Glu	rs1338961044	missense variant	-	NC_000003.12:g.156678050G>A	TOPMed
TIPARP	Q7Z3E1	p.Asp119Val	rs1298308351	missense variant	-	NC_000003.12:g.156678053A>T	gnomAD
TIPARP	Q7Z3E1	p.Asp119Gly	rs1298308351	missense variant	-	NC_000003.12:g.156678053A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp119Asn	rs747722067	missense variant	-	NC_000003.12:g.156678052G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile121Thr	rs201782670	missense variant	-	NC_000003.12:g.156678059T>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile121Met	rs1233983933	missense variant	-	NC_000003.12:g.156678060A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile121Lys	rs201782670	missense variant	-	NC_000003.12:g.156678059T>A	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro122Thr	rs1301783177	missense variant	-	NC_000003.12:g.156678061C>A	gnomAD
TIPARP	Q7Z3E1	p.Pro122Leu	rs772928271	missense variant	-	NC_000003.12:g.156678062C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu123Lys	rs1260370769	missense variant	-	NC_000003.12:g.156678064G>A	gnomAD
TIPARP	Q7Z3E1	p.His125Arg	rs1248543218	missense variant	-	NC_000003.12:g.156678071A>G	gnomAD
TIPARP	Q7Z3E1	p.His125Asp	rs774980008	missense variant	-	NC_000003.12:g.156678070C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro126Ser	rs757036019	missense variant	-	NC_000003.12:g.156678073C>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser127Pro	rs1191510420	missense variant	-	NC_000003.12:g.156678076T>C	gnomAD
TIPARP	Q7Z3E1	p.Arg133Ter	rs569197742	stop gained	-	NC_000003.12:g.156678094C>T	1000Genomes,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Gln	rs147956353	missense variant	-	NC_000003.12:g.156678095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Leu	rs147956353	missense variant	-	NC_000003.12:g.156678095G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg133Gly	rs569197742	missense variant	-	NC_000003.12:g.156678094C>G	1000Genomes,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val135Ile	rs1361728193	missense variant	-	NC_000003.12:g.156678100G>A	gnomAD
TIPARP	Q7Z3E1	p.Pro136Gln	rs140235972	missense variant	-	NC_000003.12:g.156678104C>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro136Ser	rs558453273	missense variant	-	NC_000003.12:g.156678103C>T	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro136Arg	rs140235972	missense variant	-	NC_000003.12:g.156678104C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln138Arg	rs1461451634	missense variant	-	NC_000003.12:g.156678110A>G	TOPMed
TIPARP	Q7Z3E1	p.Asp139Val	rs1251155796	missense variant	-	NC_000003.12:g.156678113A>T	TOPMed
TIPARP	Q7Z3E1	p.His140Asp	rs1188346646	missense variant	-	NC_000003.12:g.156678115C>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Pro	rs1056511062	missense variant	-	NC_000003.12:g.156678116A>C	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Gln	rs570398140	missense variant	-	NC_000003.12:g.156678117C>A	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.His140Arg	rs1056511062	missense variant	-	NC_000003.12:g.156678116A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His140Asn	rs1188346646	missense variant	-	NC_000003.12:g.156678115C>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe142Ser	rs754124618	missense variant	-	NC_000003.12:g.156678122T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro143Ala	rs762723611	missense variant	-	NC_000003.12:g.156678124C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser144Pro	rs766210307	missense variant	-	NC_000003.12:g.156678127T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu145Gly	rs1435480214	missense variant	-	NC_000003.12:g.156678131A>G	gnomAD
TIPARP	Q7Z3E1	p.Thr146Ile	rs1306496410	missense variant	-	NC_000003.12:g.156678134C>T	gnomAD
TIPARP	Q7Z3E1	p.Leu147His	rs752087020	missense variant	-	NC_000003.12:g.156678137T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu147Phe	rs371094017	missense variant	-	NC_000003.12:g.156678136C>T	ESP,ExAC,TOPMed
TIPARP	Q7Z3E1	p.Ser148Arg	rs1268917045	missense variant	-	NC_000003.12:g.156678141T>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly149Glu	rs1297430382	missense variant	-	NC_000003.12:g.156678143G>A	TOPMed
TIPARP	Q7Z3E1	p.Thr150Met	rs755720358	missense variant	-	NC_000003.12:g.156678146C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ala152Ser	rs534523851	missense variant	-	NC_000003.12:g.156678151G>T	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser154Cys	rs375315846	missense variant	-	NC_000003.12:g.156678158C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr155Ala	rs779381790	missense variant	-	NC_000003.12:g.156678160A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro156Leu	rs746258116	missense variant	-	NC_000003.12:g.156678164C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His158Arg	rs772403493	missense variant	-	NC_000003.12:g.156678170A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe159Leu	rs200200707	missense variant	-	NC_000003.12:g.156678174C>G	TOPMed
TIPARP	Q7Z3E1	p.Phe159Ser	rs1459421210	missense variant	-	NC_000003.12:g.156678173T>C	gnomAD
TIPARP	Q7Z3E1	p.Thr161Ser	rs994568863	missense variant	-	NC_000003.12:g.156678179C>G	TOPMed
TIPARP	Q7Z3E1	p.Leu163Ile	rs776070977	missense variant	-	NC_000003.12:g.156678184C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu163Val	rs776070977	missense variant	-	NC_000003.12:g.156678184C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu164Ser	rs1222441797	missense variant	-	NC_000003.12:g.156678188T>C	TOPMed
TIPARP	Q7Z3E1	p.Val167Phe	rs1371447209	missense variant	-	NC_000003.12:g.156678196G>T	gnomAD
TIPARP	Q7Z3E1	p.Ser168Leu	rs776811846	missense variant	-	NC_000003.12:g.156678200C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp170Val	rs765471373	missense variant	-	NC_000003.12:g.156678206A>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro175Leu	rs751301965	missense variant	-	NC_000003.12:g.156678221C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu178Val	rs759385620	missense variant	-	NC_000003.12:g.156678229T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp179Gly	rs767287641	missense variant	-	NC_000003.12:g.156678233A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys180Arg	rs372015234	missense variant	-	NC_000003.12:g.156678236A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys180Thr	rs372015234	missense variant	-	NC_000003.12:g.156678236A>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val181Ile	rs755559962	missense variant	-	NC_000003.12:g.156678238G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile182Val	rs140976569	missense variant	-	NC_000003.12:g.156678241A>G	ESP
TIPARP	Q7Z3E1	p.Tyr184Asp	rs777469638	missense variant	-	NC_000003.12:g.156678247T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Tyr184Cys	rs1182371185	missense variant	-	NC_000003.12:g.156678248A>G	gnomAD
TIPARP	Q7Z3E1	p.Ser193Gly	rs1473913455	missense variant	-	NC_000003.12:g.156678274A>G	gnomAD
TIPARP	Q7Z3E1	p.Phe194Ser	rs1189500859	missense variant	-	NC_000003.12:g.156678278T>C	gnomAD
TIPARP	Q7Z3E1	p.Ile196Val	rs150223955	missense variant	-	NC_000003.12:g.156678283A>G	ESP,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln197Arg	rs1170168644	missense variant	-	NC_000003.12:g.156678287A>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr198Cys	rs746154012	missense variant	-	NC_000003.12:g.156678290A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr198His	rs1165006151	missense variant	-	NC_000003.12:g.156678289T>C	TOPMed
TIPARP	Q7Z3E1	p.Ile199Thr	rs1308823808	missense variant	-	NC_000003.12:g.156678293T>C	gnomAD
TIPARP	Q7Z3E1	p.Asp201His	rs772553375	missense variant	-	NC_000003.12:g.156678298G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr202Pro	rs747599850	missense variant	-	NC_000003.12:g.156678301A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr202Ala	rs747599850	missense variant	-	NC_000003.12:g.156678301A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser203Thr	rs768586185	missense variant	-	NC_000003.12:g.156678305G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu210Val	rs1293361007	missense variant	-	NC_000003.12:g.156678325C>G	gnomAD
TIPARP	Q7Z3E1	p.Gln212Arg	rs1343992691	missense variant	-	NC_000003.12:g.156678332A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln212Leu	rs1343992691	missense variant	-	NC_000003.12:g.156678332A>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp213Asn	rs201843889	missense variant	-	NC_000003.12:g.156678334G>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu217Asp	rs1279139901	missense variant	-	NC_000003.12:g.156678348G>C	gnomAD
TIPARP	Q7Z3E1	p.Ala218Ser	rs1484506901	missense variant	-	NC_000003.12:g.156678349G>T	gnomAD
TIPARP	Q7Z3E1	p.Leu222Phe	rs773424243	missense variant	-	NC_000003.12:g.156678361C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val223Met	rs759242586	missense variant	-	NC_000003.12:g.156678364G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu225Gln	rs758347957	missense variant	-	NC_000003.12:g.156678370G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His235Arg	rs983254095	missense variant	-	NC_000003.12:g.156678401A>G	TOPMed
TIPARP	Q7Z3E1	p.Glu237Ala	rs1336416903	missense variant	-	NC_000003.12:g.156678407A>C	gnomAD
TIPARP	Q7Z3E1	p.Asn238Asp	rs140486151	missense variant	-	NC_000003.12:g.156678409A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met244Thr	rs1317726110	missense variant	-	NC_000003.12:g.156678428T>C	TOPMed
TIPARP	Q7Z3E1	p.Met244Val	rs1430147291	missense variant	-	NC_000003.12:g.156678427A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln248Arg	rs753340986	missense variant	-	NC_000003.12:g.156678440A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gly249Asp	rs756834863	missense variant	-	NC_000003.12:g.156678443G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr250Ser	rs764978014	missense variant	-	NC_000003.12:g.156678446C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr250Ile	rs764978014	missense variant	-	NC_000003.12:g.156678446C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile252Met	rs201976652	missense variant	-	NC_000003.12:g.156678453T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg255Gly	rs758666395	missense variant	-	NC_000003.12:g.156678460A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp256Tyr	rs779765422	missense variant	-	NC_000003.12:g.156678463G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp256Gly	rs747363738	missense variant	-	NC_000003.12:g.156678464A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp256Glu	rs1466691731	missense variant	-	NC_000003.12:g.156678465T>G	gnomAD
TIPARP	Q7Z3E1	p.Leu258Phe	rs1189598175	missense variant	-	NC_000003.12:g.156678471G>T	gnomAD
TIPARP	Q7Z3E1	p.Lys259Arg	rs1286559879	missense variant	-	NC_000003.12:g.156678473A>G	TOPMed
TIPARP	Q7Z3E1	p.Ile270Met	rs781670937	missense variant	-	NC_000003.12:g.156678507C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Lys271Gln	rs1426168303	missense variant	-	NC_000003.12:g.156678508A>C	gnomAD
TIPARP	Q7Z3E1	p.Arg272Gly	rs748156388	missense variant	-	NC_000003.12:g.156678511A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg272Ser	rs746495291	missense variant	-	NC_000003.12:g.156678513G>C	TOPMed
TIPARP	Q7Z3E1	p.Thr273Ile	rs1479652371	missense variant	-	NC_000003.12:g.156678515C>T	TOPMed
TIPARP	Q7Z3E1	p.Thr273Ser	rs1489734415	missense variant	-	NC_000003.12:g.156678514A>T	gnomAD
TIPARP	Q7Z3E1	p.Ser280Asn	rs1438383637	missense variant	-	NC_000003.12:g.156678536G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe282Val	rs1428394274	missense variant	-	NC_000003.12:g.156678541T>G	TOPMed
TIPARP	Q7Z3E1	p.Asn283Ser	rs145662613	missense variant	-	NC_000003.12:g.156678545A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn283Ile	rs145662613	missense variant	-	NC_000003.12:g.156678545A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser285Phe	rs947722121	missense variant	-	NC_000003.12:g.156678551C>T	gnomAD
TIPARP	Q7Z3E1	p.Cys294Gly	rs775306797	missense variant	-	NC_000003.12:g.156678577T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn295Asp	rs138118991	missense variant	-	NC_000003.12:g.156678580A>G	1000Genomes,ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp299Gly	rs149538633	missense variant	-	NC_000003.12:g.156678593A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys304Asn	rs776778193	missense variant	-	NC_000003.12:g.156678609G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr305Cys	rs35768405	missense variant	-	NC_000003.12:g.156678611A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Tyr305Ser	rs35768405	missense variant	-	NC_000003.12:g.156678611A>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly307Glu	rs1390490421	missense variant	-	NC_000003.12:g.156694022G>A	gnomAD
TIPARP	Q7Z3E1	p.Glu309Ala	rs1240885572	missense variant	-	NC_000003.12:g.156694028A>C	TOPMed
TIPARP	Q7Z3E1	p.Asp313Glu	rs1173472969	missense variant	-	NC_000003.12:g.156694041T>G	gnomAD
TIPARP	Q7Z3E1	p.Ala316Val	rs1379031614	missense variant	-	NC_000003.12:g.156694049C>T	gnomAD
TIPARP	Q7Z3E1	p.Met317Leu	rs1466086841	missense variant	-	NC_000003.12:g.156694051A>C	gnomAD
TIPARP	Q7Z3E1	p.Val319Met	rs768539321	missense variant	-	NC_000003.12:g.156694057G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Val319Leu	rs768539321	missense variant	-	NC_000003.12:g.156694057G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Tyr320Cys	rs769711462	missense variant	-	NC_000003.12:g.156694061A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Thr323Asn	rs773024103	missense variant	-	NC_000003.12:g.156694070C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln327His	rs770403066	missense variant	-	NC_000003.12:g.156694083A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gln327Lys	rs762517684	missense variant	-	NC_000003.12:g.156694081C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln327Glu	rs762517684	missense variant	-	NC_000003.12:g.156694081C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser332Cys	rs1210445105	missense variant	-	NC_000003.12:g.156694097C>G	gnomAD
TIPARP	Q7Z3E1	p.Ser336Ala	rs1467830652	missense variant	-	NC_000003.12:g.156694108T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser336Phe	rs761032073	missense variant	-	NC_000003.12:g.156694109C>T	ExAC
TIPARP	Q7Z3E1	p.Asn338Ser	rs148252230	missense variant	-	NC_000003.12:g.156694115A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn340Ser	rs1036522422	missense variant	-	NC_000003.12:g.156694121A>G	-
TIPARP	Q7Z3E1	p.Ser341Cys	rs1409042958	missense variant	-	NC_000003.12:g.156694124C>G	gnomAD
TIPARP	Q7Z3E1	p.Ile342Val	rs200857296	missense variant	-	NC_000003.12:g.156694126A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val346Leu	rs200119519	missense variant	-	NC_000003.12:g.156694138G>C	1000Genomes,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe349Cys	rs1457691071	missense variant	-	NC_000003.12:g.156694148T>G	gnomAD
TIPARP	Q7Z3E1	p.Arg358Thr	rs750560844	missense variant	-	NC_000003.12:g.156694175G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu359Ala	rs1425278368	missense variant	-	NC_000003.12:g.156694178A>C	gnomAD
TIPARP	Q7Z3E1	p.Pro361Arg	rs1387504652	missense variant	-	NC_000003.12:g.156694184C>G	gnomAD
TIPARP	Q7Z3E1	p.Pro361Ser	rs141280180	missense variant	-	NC_000003.12:g.156694183C>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro361Ala	rs141280180	missense variant	-	NC_000003.12:g.156694183C>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu362Lys	rs150739414	missense variant	-	NC_000003.12:g.156694186G>A	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile365Val	rs139609776	missense variant	-	NC_000003.12:g.156695871A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg366Gly	rs778830481	missense variant	-	NC_000003.12:g.156695874C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg366Leu	rs745377501	missense variant	-	NC_000003.12:g.156695875G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg366Gln	rs745377501	missense variant	-	NC_000003.12:g.156695875G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Glu369Ala	rs1390721044	missense variant	-	NC_000003.12:g.156695884A>C	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu369Ter	rs1331757567	stop gained	-	NC_000003.12:g.156695883G>T	TOPMed
TIPARP	Q7Z3E1	p.Ala371Thr	rs1168397565	missense variant	-	NC_000003.12:g.156695889G>A	gnomAD
TIPARP	Q7Z3E1	p.Asn372His	rs746682952	missense variant	-	NC_000003.12:g.156695892A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn372Thr	rs143409745	missense variant	-	NC_000003.12:g.156695893A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn372Ser	rs143409745	missense variant	-	NC_000003.12:g.156695893A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser373Pro	rs762251916	missense variant	-	NC_000003.12:g.156695895T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser373Phe	rs1358581953	missense variant	-	NC_000003.12:g.156695896C>T	gnomAD
TIPARP	Q7Z3E1	p.Arg374Trp	rs201159091	missense variant	-	NC_000003.12:g.156695898C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg374Gln	rs773919171	missense variant	-	NC_000003.12:g.156695899G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly375Cys	rs1379855861	missense variant	-	NC_000003.12:g.156695901G>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu376Pro	rs763107741	missense variant	-	NC_000003.12:g.156695905T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu378Ala	rs766612770	missense variant	-	NC_000003.12:g.156695911A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg380Gln	rs1302605426	missense variant	-	NC_000003.12:g.156695917G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe381Ser	rs147143306	missense variant	-	NC_000003.12:g.156695920T>C	ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Trp384Cys	rs552678860	missense variant	-	NC_000003.12:g.156695930G>T	gnomAD
TIPARP	Q7Z3E1	p.Asn385Asp	rs1380989916	missense variant	-	NC_000003.12:g.156695931A>G	gnomAD
TIPARP	Q7Z3E1	p.Asn386Lys	rs1309888637	missense variant	-	NC_000003.12:g.156695936C>G	gnomAD
TIPARP	Q7Z3E1	p.Tyr388Cys	rs1239696007	missense variant	-	NC_000003.12:g.156695941A>G	gnomAD
TIPARP	Q7Z3E1	p.Ile389Val	rs767797746	missense variant	-	NC_000003.12:g.156695943A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu390Arg	rs1437753614	missense variant	-	NC_000003.12:g.156695947T>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.His391Arg	rs753513614	missense variant	-	NC_000003.12:g.156695950A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn392Ser	rs757147574	missense variant	-	NC_000003.12:g.156695953A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg396Gly	rs757874481	missense variant	-	NC_000003.12:g.156695964A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg397Gly	rs1221148557	missense variant	-	NC_000003.12:g.156695967A>G	TOPMed
TIPARP	Q7Z3E1	p.Arg397Ser	rs779496951	missense variant	-	NC_000003.12:g.156695969A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu398Asp	rs746549290	missense variant	-	NC_000003.12:g.156695972G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile399Arg	rs768134379	missense variant	-	NC_000003.12:g.156695974T>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile399Thr	rs768134379	missense variant	-	NC_000003.12:g.156695974T>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro403Ser	rs1362884365	missense variant	-	NC_000003.12:g.156695985C>T	TOPMed
TIPARP	Q7Z3E1	p.Phe405Leu	rs770336627	missense variant	-	NC_000003.12:g.156695993C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406Leu	rs771589802	missense variant	-	NC_000003.12:g.156695995G>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg406Ser	rs17854621	missense variant	-	NC_000003.12:g.156695994C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406Ser	rs17854621	missense variant	-	NC_000003.12:g.156695994C>A	UniProt,dbSNP
TIPARP	Q7Z3E1	p.Arg406Ser	VAR_027155	missense variant	-	NC_000003.12:g.156695994C>A	UniProt
TIPARP	Q7Z3E1	p.Arg406Cys	rs17854621	missense variant	-	NC_000003.12:g.156695994C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg406His	rs771589802	missense variant	-	NC_000003.12:g.156695995G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe409Tyr	rs774240678	missense variant	-	NC_000003.12:g.156696004T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe409Ile	rs1435577851	missense variant	-	NC_000003.12:g.156696003T>A	gnomAD
TIPARP	Q7Z3E1	p.Leu412Phe	rs140142843	missense variant	-	NC_000003.12:g.156696012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Leu412His	rs1278786503	missense variant	-	NC_000003.12:g.156696013T>A	gnomAD
TIPARP	Q7Z3E1	p.Val421Phe	rs1162604065	missense variant	-	NC_000003.12:g.156703437G>T	gnomAD
TIPARP	Q7Z3E1	p.Pro422Ser	rs749686048	missense variant	-	NC_000003.12:g.156703440C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro422Thr	rs749686048	missense variant	-	NC_000003.12:g.156703440C>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro422Ala	rs749686048	missense variant	-	NC_000003.12:g.156703440C>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ala425Gly	rs772247182	missense variant	-	NC_000003.12:g.156703450C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ala425Pro	rs200460123	missense variant	-	NC_000003.12:g.156703449G>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro426Ser	rs1289740413	missense variant	-	NC_000003.12:g.156703452C>T	gnomAD
TIPARP	Q7Z3E1	p.Pro428Ser	rs774571724	missense variant	-	NC_000003.12:g.156703458C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro428Arg	rs760849853	missense variant	-	NC_000003.12:g.156703459C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu429Val	rs1202254748	missense variant	-	NC_000003.12:g.156703461C>G	TOPMed
TIPARP	Q7Z3E1	p.Ala431Val	rs764320963	missense variant	-	NC_000003.12:g.156703468C>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser435Pro	rs1482892663	missense variant	-	NC_000003.12:g.156703479T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly442Glu	rs1276018525	missense variant	-	NC_000003.12:g.156703501G>A	TOPMed
TIPARP	Q7Z3E1	p.Asn447Asp	rs201451219	missense variant	-	NC_000003.12:g.156703515A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn447His	rs201451219	missense variant	-	NC_000003.12:g.156703515A>C	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe448Leu	rs1389152742	missense variant	-	NC_000003.12:g.156703518T>C	gnomAD
TIPARP	Q7Z3E1	p.Tyr449His	rs912606472	missense variant	-	NC_000003.12:g.156703521T>C	TOPMed
TIPARP	Q7Z3E1	p.Val454Phe	rs1334810026	missense variant	-	NC_000003.12:g.156703536G>T	TOPMed
TIPARP	Q7Z3E1	p.Met456Val	rs752284660	missense variant	-	NC_000003.12:g.156703542A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln460Arg	rs1471030817	missense variant	-	NC_000003.12:g.156703555A>G	TOPMed
TIPARP	Q7Z3E1	p.Ile463Val	rs942689983	missense variant	-	NC_000003.12:g.156703563A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ile463Met	rs1334055498	missense variant	-	NC_000003.12:g.156703565C>G	gnomAD
TIPARP	Q7Z3E1	p.Pro466Arg	rs1450634187	missense variant	-	NC_000003.12:g.156703573C>G	gnomAD
TIPARP	Q7Z3E1	p.Val467Ile	rs777573979	missense variant	-	NC_000003.12:g.156703575G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val467Leu	rs777573979	missense variant	-	NC_000003.12:g.156703575G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys472Glu	rs757698240	missense variant	-	NC_000003.12:g.156703590A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser473Asn	rs1226375510	missense variant	-	NC_000003.12:g.156703594G>A	gnomAD
TIPARP	Q7Z3E1	p.Arg475Trp	rs150068199	missense variant	-	NC_000003.12:g.156703599C>T	ESP,ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn479Ser	rs145315559	missense variant	-	NC_000003.12:g.156703612A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Glu487Asp	rs370596394	missense variant	-	NC_000003.12:g.156703637G>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys489Gln	rs747102891	missense variant	-	NC_000003.12:g.156703641A>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu493Phe	rs776902281	missense variant	-	NC_000003.12:g.156703655G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gln494His	rs762719514	missense variant	-	NC_000003.12:g.156703658G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Leu496Ser	rs774124108	missense variant	-	NC_000003.12:g.156703663T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Lys506Arg	rs184863885	missense variant	-	NC_000003.12:g.156703693A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Lys508Arg	rs752190385	missense variant	-	NC_000003.12:g.156703699A>G	ExAC,TOPMed
TIPARP	Q7Z3E1	p.Glu512Asp	rs140631438	missense variant	-	NC_000003.12:g.156704693A>T	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Phe519Ser	rs1261037745	missense variant	-	NC_000003.12:g.156704713T>C	gnomAD
TIPARP	Q7Z3E1	p.Gly520Asp	rs1488040531	missense variant	-	NC_000003.12:g.156704716G>A	gnomAD
TIPARP	Q7Z3E1	p.Arg521His	rs199568062	missense variant	-	NC_000003.12:g.156704719G>A	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg521Cys	rs146547620	missense variant	-	NC_000003.12:g.156704718C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg521Ser	rs146547620	missense variant	-	NC_000003.12:g.156704718C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asp522Glu	rs745663982	missense variant	-	NC_000003.12:g.156704723C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp522Tyr	rs963750734	missense variant	-	NC_000003.12:g.156704721G>T	gnomAD
TIPARP	Q7Z3E1	p.Asp522Gly	rs1321219131	missense variant	-	NC_000003.12:g.156704722A>G	TOPMed
TIPARP	Q7Z3E1	p.Arg523Gly	rs145937401	missense variant	-	NC_000003.12:g.156704724A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg523Trp	rs145937401	missense variant	-	NC_000003.12:g.156704724A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Arg523Lys	rs775538386	missense variant	-	NC_000003.12:g.156704725G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile524Val	rs1390872537	missense variant	-	NC_000003.12:g.156704727A>G	TOPMed
TIPARP	Q7Z3E1	p.Asn526Ser	rs150170944	missense variant	-	NC_000003.12:g.156704734A>G	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser535Cys	rs776226052	missense variant	-	NC_000003.12:g.156704761C>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asp537His	rs1291975962	missense variant	-	NC_000003.12:g.156704766G>C	gnomAD
TIPARP	Q7Z3E1	p.Asp537Val	rs1183347333	missense variant	-	NC_000003.12:g.156704767A>T	TOPMed
TIPARP	Q7Z3E1	p.Lys544Arg	rs1477929991	missense variant	-	NC_000003.12:g.156704788A>G	TOPMed
TIPARP	Q7Z3E1	p.Asn546Ser	rs764935974	missense variant	-	NC_000003.12:g.156704794A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.His555Arg	rs763349428	missense variant	-	NC_000003.12:g.156704821A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Met558Val	rs766769030	missense variant	-	NC_000003.12:g.156704829A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met558Thr	rs368152871	missense variant	-	NC_000003.12:g.156704830T>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met558Ile	rs1242403472	missense variant	-	NC_000003.12:g.156704831G>A	gnomAD
TIPARP	Q7Z3E1	p.Gln561His	rs973547078	missense variant	-	NC_000003.12:g.156704840A>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn574Tyr	rs755428022	missense variant	-	NC_000003.12:g.156704877A>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser576Ala	rs1438174539	missense variant	-	NC_000003.12:g.156704883T>G	TOPMed
TIPARP	Q7Z3E1	p.Lys577Glu	rs1204016670	missense variant	-	NC_000003.12:g.156704886A>G	gnomAD
TIPARP	Q7Z3E1	p.Ser580Pro	rs1331122196	missense variant	-	NC_000003.12:g.156704895T>C	TOPMed
TIPARP	Q7Z3E1	p.Gly582Ala	rs1319292966	missense variant	-	NC_000003.12:g.156704902G>C	TOPMed
TIPARP	Q7Z3E1	p.Val583Asp	rs752819159	missense variant	-	NC_000003.12:g.156704905T>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Phe585Leu	rs1455252651	missense variant	-	NC_000003.12:g.156704910T>C	TOPMed
TIPARP	Q7Z3E1	p.Thr593Met	rs1163198135	missense variant	-	NC_000003.12:g.156704935C>T	gnomAD
TIPARP	Q7Z3E1	p.Arg595Lys	rs1168206881	missense variant	-	NC_000003.12:g.156704941G>A	gnomAD
TIPARP	Q7Z3E1	p.Thr597Ala	rs749512926	missense variant	-	NC_000003.12:g.156704946A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Leu	rs771313745	missense variant	-	NC_000003.12:g.156704949A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Val	rs771313745	missense variant	-	NC_000003.12:g.156704949A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Met598Thr	rs746816452	missense variant	-	NC_000003.12:g.156704950T>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ser600Cys	rs1394066979	missense variant	-	NC_000003.12:g.156704955A>T	gnomAD
TIPARP	Q7Z3E1	p.Ser600Thr	rs1316971743	missense variant	-	NC_000003.12:g.156704956G>C	gnomAD
TIPARP	Q7Z3E1	p.His601Tyr	rs761369679	missense variant	-	NC_000003.12:g.156704958C>T	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly602Ala	rs1174463849	missense variant	-	NC_000003.12:g.156704962G>C	TOPMed
TIPARP	Q7Z3E1	p.Arg605Ser	rs762552988	missense variant	-	NC_000003.12:g.156704972G>T	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Arg605Ser	rs762552988	missense variant	-	NC_000003.12:g.156704972G>C	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Pro606Leu	rs267599664	missense variant	-	NC_000003.12:g.156704974C>T	-
TIPARP	Q7Z3E1	p.Val609Leu	rs759897350	missense variant	-	NC_000003.12:g.156704982G>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Val609Ile	rs759897350	missense variant	-	NC_000003.12:g.156704982G>A	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn610Asp	rs753194812	missense variant	-	NC_000003.12:g.156704985A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Asn610Ser	rs540401885	missense variant	-	NC_000003.12:g.156704986A>G	1000Genomes,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Pro611Thr	rs764041948	missense variant	-	NC_000003.12:g.156704988C>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Gly612Val	rs1229894784	missense variant	-	NC_000003.12:g.156704992G>T	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Gly612Asp	rs1229894784	missense variant	-	NC_000003.12:g.156704992G>A	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser613Gly	rs1276262331	missense variant	-	NC_000003.12:g.156704994A>G	TOPMed
TIPARP	Q7Z3E1	p.Thr615Ala	rs1411701037	missense variant	-	NC_000003.12:g.156705000A>G	gnomAD
TIPARP	Q7Z3E1	p.Asp617Asn	rs757500372	missense variant	-	NC_000003.12:g.156705006G>A	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile634Leu	rs1291859416	missense variant	-	NC_000003.12:g.156705057A>C	gnomAD
TIPARP	Q7Z3E1	p.Ile634Val	rs1291859416	missense variant	-	NC_000003.12:g.156705057A>G	gnomAD
TIPARP	Q7Z3E1	p.Phe644Cys	rs781163882	missense variant	-	NC_000003.12:g.156705088T>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Ile646Val	rs1366765234	missense variant	-	NC_000003.12:g.156705093A>G	TOPMed
TIPARP	Q7Z3E1	p.Ser652Gly	rs772548229	missense variant	-	NC_000003.12:g.156705111A>G	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser652Arg	rs772548229	missense variant	-	NC_000003.12:g.156705111A>C	ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Asn653Ser	rs748808261	missense variant	-	NC_000003.12:g.156705115A>G	ExAC,gnomAD
TIPARP	Q7Z3E1	p.Thr654Ala	rs1266929320	missense variant	-	NC_000003.12:g.156705117A>G	TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser656Pro	rs138664121	missense variant	-	NC_000003.12:g.156705123T>C	ESP,ExAC,TOPMed,gnomAD
TIPARP	Q7Z3E1	p.Ser656Thr	rs138664121	missense variant	-	NC_000003.12:g.156705123T>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2Thr	COSM1304664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42326247G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala2Asp	rs1234278549	missense variant	-	NC_000019.10:g.42326248C>A	gnomAD
MEGF8	Q7Z7M0	p.Gly4Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42326254G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Lys5Asn	COSM997333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42326258G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala8Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42326266C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Met9Ile	rs1029623509	missense variant	-	NC_000019.10:g.42326270G>C	TOPMed
MEGF8	Q7Z7M0	p.Met9Ile	COSM6150887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42326270G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala10Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42326271G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala10Val	rs559809654	missense variant	-	NC_000019.10:g.42326272C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val12Leu	rs769597326	missense variant	-	NC_000019.10:g.42326277G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala16Gly	rs1050352479	missense variant	-	NC_000019.10:g.42326290C>G	TOPMed
MEGF8	Q7Z7M0	p.Val17Leu	rs749510496	missense variant	-	NC_000019.10:g.42326292G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu18Pro	rs1291135217	missense variant	-	NC_000019.10:g.42326296T>C	TOPMed
MEGF8	Q7Z7M0	p.Ser20Leu	rs530058933	missense variant	-	NC_000019.10:g.42326302C>T	1000Genomes
MEGF8	Q7Z7M0	p.Ser22Cys	rs1475448824	missense variant	-	NC_000019.10:g.42326308C>G	gnomAD
MEGF8	Q7Z7M0	p.Ser22Phe	rs1475448824	missense variant	-	NC_000019.10:g.42326308C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser22Pro	rs771011541	missense variant	-	NC_000019.10:g.42326307T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro23Leu	rs774347513	missense variant	-	NC_000019.10:g.42326311C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly24Arg	rs760067083	missense variant	-	NC_000019.10:g.42326313G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly24Glu	rs1469583638	missense variant	-	NC_000019.10:g.42326314G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg26Leu	rs377001753	missense variant	-	NC_000019.10:g.42326320G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg26Trp	rs1213786952	missense variant	-	NC_000019.10:g.42326319C>T	TOPMed
MEGF8	Q7Z7M0	p.Arg26Gln	rs377001753	missense variant	-	NC_000019.10:g.42326320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala27Thr	rs760987793	missense variant	-	NC_000019.10:g.42326322G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly28Ala	COSM3362891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42326326G>C	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly28Glu	rs1375040470	missense variant	-	NC_000019.10:g.42326326G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp29His	rs750104104	missense variant	-	NC_000019.10:g.42326328G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp29Tyr	rs750104104	missense variant	-	NC_000019.10:g.42326328G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp29Asn	rs750104104	missense variant	-	NC_000019.10:g.42326328G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp29Val	rs765996558	missense variant	-	NC_000019.10:g.42326329A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys30Tyr	rs1238968368	missense variant	-	NC_000019.10:g.42326332G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly32Glu	rs751060296	missense variant	-	NC_000019.10:g.42326338G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly32Arg	rs1280588246	missense variant	-	NC_000019.10:g.42326337G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg34Gln	rs1279212662	missense variant	-	NC_000019.10:g.42326344G>A	gnomAD
MEGF8	Q7Z7M0	p.Gln35Arg	rs754511848	missense variant	-	NC_000019.10:g.42326347A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val36Gly	rs781027989	missense variant	-	NC_000019.10:g.42326350T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg38Gln	rs752669700	missense variant	-	NC_000019.10:g.42326356G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg38Pro	rs752669700	missense variant	-	NC_000019.10:g.42326356G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg38Trp	rs1339893627	missense variant	-	NC_000019.10:g.42326355C>T	TOPMed
MEGF8	Q7Z7M0	p.Ala40Val	rs1017586579	missense variant	-	NC_000019.10:g.42326362C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro41Ser	rs755931805	missense variant	-	NC_000019.10:g.42326364C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly42Arg	rs973854876	missense variant	-	NC_000019.10:g.42326367G>C	TOPMed
MEGF8	Q7Z7M0	p.Val44Leu	rs777559070	missense variant	-	NC_000019.10:g.42326373G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr45Arg	rs1394509514	missense variant	-	NC_000019.10:g.42326377C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr45Met	rs1394509514	missense variant	-	NC_000019.10:g.42326377C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly47Cys	rs1175690557	missense variant	-	NC_000019.10:g.42326382G>T	gnomAD
MEGF8	Q7Z7M0	p.Ala48Val	rs749526205	missense variant	-	NC_000019.10:g.42326386C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn50Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42326393C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Val53Ile	rs761004605	missense variant	-	NC_000019.10:g.42326400G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn54Ser	rs1433737242	missense variant	-	NC_000019.10:g.42326404A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly55Ala	rs771093365	missense variant	-	NC_000019.10:g.42326407G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys57Ser	rs1347918863	missense variant	-	NC_000019.10:g.42326412T>A	gnomAD
MEGF8	Q7Z7M0	p.Glu58Lys	rs778995883	missense variant	-	NC_000019.10:g.42326415G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu60His	rs745986905	missense variant	-	NC_000019.10:g.42326422T>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ile61Phe	rs1338583541	missense variant	-	NC_000019.10:g.42326424A>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro64Leu	rs1011874976	missense variant	-	NC_000019.10:g.42333608C>T	TOPMed
MEGF8	Q7Z7M0	p.Pro64Ala	rs758472569	missense variant	-	NC_000019.10:g.42333607C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser65Gly	rs780112441	missense variant	-	NC_000019.10:g.42333610A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser65Arg	rs536773914	missense variant	-	NC_000019.10:g.42333612C>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg69Trp	rs769153746	missense variant	-	NC_000019.10:g.42333622C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg69Gln	rs777251009	missense variant	-	NC_000019.10:g.42333623G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr79Pro	rs1395820372	missense variant	-	NC_000019.10:g.42333652A>C	gnomAD
MEGF8	Q7Z7M0	p.Glu80Lys	COSM3797144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42333655G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Glu80Ter	COSM4926092	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42333655G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Thr82Met	rs748576204	missense variant	-	NC_000019.10:g.42333662C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val88Met	rs372955721	missense variant	-	NC_000019.10:g.42333679G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly91Ser	rs369362097	missense variant	-	NC_000019.10:g.42333688G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp92Asn	rs764131985	missense variant	-	NC_000019.10:g.42333691G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser93Phe	rs200910137	missense variant	-	NC_000019.10:g.42333695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser93Cys	rs200910137	missense variant	-	NC_000019.10:g.42333695C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro94Leu	rs570125469	missense variant	-	NC_000019.10:g.42333698C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg95Gly	rs376057779	missense variant	-	NC_000019.10:g.42333700C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg95Ter	rs376057779	stop gained	-	NC_000019.10:g.42333700C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg95Gln	rs758585947	missense variant	-	NC_000019.10:g.42333701G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly96Ala	rs780016069	missense variant	-	NC_000019.10:g.42333704G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly96Trp	rs370744518	missense variant	-	NC_000019.10:g.42333703G>T	ESP
MEGF8	Q7Z7M0	p.Gly96Glu	rs780016069	missense variant	-	NC_000019.10:g.42333704G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro97Ala	rs754995245	missense variant	-	NC_000019.10:g.42333706C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro97Thr	rs754995245	missense variant	-	NC_000019.10:g.42333706C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro97Leu	rs748664087	missense variant	-	NC_000019.10:g.42333707C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala100Thr	rs745530684	missense variant	-	NC_000019.10:g.42333715G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly104Ala	rs1354759014	missense variant	-	NC_000019.10:g.42333728G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser105Asn	rs989955864	missense variant	-	NC_000019.10:g.42333731G>A	TOPMed
MEGF8	Q7Z7M0	p.Ser105Thr	rs989955864	missense variant	-	NC_000019.10:g.42333731G>C	TOPMed
MEGF8	Q7Z7M0	p.Arg107Ter	rs774975242	stop gained	-	NC_000019.10:g.42333736C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg107Gln	rs760280227	missense variant	-	NC_000019.10:g.42333737G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro108Thr	rs1373206010	missense variant	-	NC_000019.10:g.42333739C>A	gnomAD
MEGF8	Q7Z7M0	p.Pro108Leu	rs201353508	missense variant	-	NC_000019.10:g.42333740C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro109Leu	RCV000500541	missense variant	-	NC_000019.10:g.42333743C>T	ClinVar
MEGF8	Q7Z7M0	p.Pro109Gln	rs768036287	missense variant	-	NC_000019.10:g.42333743C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro109Leu	rs768036287	missense variant	-	NC_000019.10:g.42333743C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro110Thr	rs183986572	missense variant	-	NC_000019.10:g.42333745C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ile111Leu	rs1306126023	missense variant	-	NC_000019.10:g.42333748A>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ile111Val	rs1306126023	missense variant	-	NC_000019.10:g.42333748A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu112Lys	rs763111888	missense variant	-	NC_000019.10:g.42333751G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu112Asp	rs766677631	missense variant	-	NC_000019.10:g.42333753A>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala113Thr	rs188320625	missense variant	-	NC_000019.10:g.42333754G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser115Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.42333761C>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Ser115Thr	COSM5150213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42333760T>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly116Asp	rs200462288	missense variant	-	NC_000019.10:g.42333764G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His121Tyr	rs1369969812	missense variant	-	NC_000019.10:g.42334016C>T	gnomAD
MEGF8	Q7Z7M0	p.His121Arg	COSM997335	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42334017A>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Phe133Tyr	rs773970699	missense variant	-	NC_000019.10:g.42334053T>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala135Thr	rs775833160	missense variant	-	NC_000019.10:g.42334058G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala135Val	rs1213749252	missense variant	-	NC_000019.10:g.42334059C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg138Cys	RCV000591181	missense variant	-	NC_000019.10:g.42334067C>T	ClinVar
MEGF8	Q7Z7M0	p.Arg138His	rs551896120	missense variant	-	NC_000019.10:g.42334068G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg138Cys	rs760894078	missense variant	-	NC_000019.10:g.42334067C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro143Leu	RCV000538351	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42334083C>T	ClinVar
MEGF8	Q7Z7M0	p.Pro143Gln	rs765654107	missense variant	-	NC_000019.10:g.42334083C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro143Leu	rs765654107	missense variant	-	NC_000019.10:g.42334083C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln147Ter	rs1439215715	stop gained	-	NC_000019.10:g.42334094C>T	TOPMed
MEGF8	Q7Z7M0	p.Gly150Arg	rs1201108107	missense variant	-	NC_000019.10:g.42334103G>A	TOPMed
MEGF8	Q7Z7M0	p.Pro155Leu	rs747798007	missense variant	-	NC_000019.10:g.42334119C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val157Met	rs755629942	missense variant	-	NC_000019.10:g.42334124G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala159Val	rs1363164396	missense variant	-	NC_000019.10:g.42334131C>T	gnomAD
MEGF8	Q7Z7M0	p.Glu161Lys	rs762892185	missense variant	-	NC_000019.10:g.42334136G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro162Leu	rs770734416	missense variant	-	NC_000019.10:g.42334140C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly163Asp	rs1306933159	missense variant	-	NC_000019.10:g.42334143G>A	TOPMed
MEGF8	Q7Z7M0	p.Gly163Ser	rs1291409824	missense variant	-	NC_000019.10:g.42334142G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly165Trp	rs1214708807	missense variant	-	NC_000019.10:g.42334148G>T	gnomAD
MEGF8	Q7Z7M0	p.Gly166Val	rs79719576	missense variant	-	NC_000019.10:g.42334152G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly166ValPheSerTerUnkUnk	rs762115034	frameshift	-	NC_000019.10:g.42334146G>-	NCI-TCGA,NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly166Asp	rs79719576	missense variant	-	NC_000019.10:g.42334152G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly166Cys	rs1489173434	missense variant	-	NC_000019.10:g.42334151G>T	gnomAD
MEGF8	Q7Z7M0	p.Gly166Ala	rs79719576	missense variant	-	NC_000019.10:g.42334152G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro167SerPheSerTerUnk	rs774089783	frameshift	-	NC_000019.10:g.42334145_42334146insG	NCI-TCGA,NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro167Arg	rs62114375	missense variant	-	NC_000019.10:g.42334155C>G	gnomAD
MEGF8	Q7Z7M0	p.Pro167Leu	rs62114375	missense variant	-	NC_000019.10:g.42334155C>T	gnomAD
MEGF8	Q7Z7M0	p.Leu171Gln	rs1416065294	missense variant	-	NC_000019.10:g.42334167T>A	gnomAD
MEGF8	Q7Z7M0	p.Gln172Ter	rs1317980856	stop gained	-	NC_000019.10:g.42334169C>T	gnomAD
MEGF8	Q7Z7M0	p.Glu173Lys	rs775920740	missense variant	-	NC_000019.10:g.42334172G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser175Ala	rs1369233113	missense variant	-	NC_000019.10:g.42334178T>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala176Thr	rs1311477465	missense variant	-	NC_000019.10:g.42334181G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala176Gly	rs764246520	missense variant	-	NC_000019.10:g.42334182C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly179Cys	rs1415954874	missense variant	-	NC_000019.10:g.42334190G>T	gnomAD
MEGF8	Q7Z7M0	p.His181Gln	rs776522130	missense variant	-	NC_000019.10:g.42334198C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His181Tyr	rs1286458673	missense variant	-	NC_000019.10:g.42334196C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly182Ser	rs762411505	missense variant	-	NC_000019.10:g.42334199G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly182Asp	rs1440854966	missense variant	-	NC_000019.10:g.42334200G>A	TOPMed
MEGF8	Q7Z7M0	p.Thr183Ile	rs750904616	missense variant	-	NC_000019.10:g.42334203C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys184Phe	rs1208224988	missense variant	-	NC_000019.10:g.42334206G>T	gnomAD
MEGF8	Q7Z7M0	p.Ala185Thr	rs766668498	missense variant	-	NC_000019.10:g.42334208G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala185Val	rs1189607111	missense variant	-	NC_000019.10:g.42334209C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser186Leu	rs111865089	missense variant	-	NC_000019.10:g.42334212C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser186Trp	rs111865089	missense variant	-	NC_000019.10:g.42334212C>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro187Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42335036C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro187Ser	rs1159337483	missense variant	-	NC_000019.10:g.42335035C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly189Arg	rs200037040	missense variant	-	NC_000019.10:g.42335041G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro190Ser	rs756784580	missense variant	-	NC_000019.10:g.42335044C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys191Phe	rs1338443214	missense variant	-	NC_000019.10:g.42335048G>T	gnomAD
MEGF8	Q7Z7M0	p.Arg192Leu	rs548945656	missense variant	-	NC_000019.10:g.42335051G>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg192Cys	rs778498838	missense variant	-	NC_000019.10:g.42335050C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg192His	rs548945656	missense variant	-	NC_000019.10:g.42335051G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys193Arg	rs1328884456	missense variant	-	NC_000019.10:g.42335053T>C	TOPMed
MEGF8	Q7Z7M0	p.Glu194Lys	rs780023172	missense variant	-	NC_000019.10:g.42335056G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu194Asp	rs1211874588	missense variant	-	NC_000019.10:g.42335058G>C	gnomAD
MEGF8	Q7Z7M0	p.Pro195Leu	rs1305476517	missense variant	-	NC_000019.10:g.42335060C>T	TOPMed
MEGF8	Q7Z7M0	p.Pro195Ser	rs1252404955	missense variant	-	NC_000019.10:g.42335059C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly199Arg	VAR_069305	Missense	Carpenter syndrome 2 (CRPT2) [MIM:614976]	-	UniProt
MEGF8	Q7Z7M0	p.Arg200His	rs201881006	missense variant	-	NC_000019.10:g.42335075G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg200Leu	rs201881006	missense variant	-	NC_000019.10:g.42335075G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg200Cys	rs200803481	missense variant	-	NC_000019.10:g.42335074C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu206Met	COSM997339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42335092C>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gln210Lys	rs773229520	missense variant	-	NC_000019.10:g.42335104C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala212Val	rs763485160	missense variant	-	NC_000019.10:g.42335111C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly213Ala	rs374831922	missense variant	-	NC_000019.10:g.42335114G>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn217Thr	rs1388166444	missense variant	-	NC_000019.10:g.42335126A>C	gnomAD
MEGF8	Q7Z7M0	p.Asn217Lys	rs774819152	missense variant	-	NC_000019.10:g.42335127C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val218Leu	rs767920960	missense variant	-	NC_000019.10:g.42335128G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val218Met	rs767920960	missense variant	-	NC_000019.10:g.42335128G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser219Ile	rs1279662802	missense variant	-	NC_000019.10:g.42335132G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala220Asp	COSM294557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42335135C>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Asp222Asn	rs747359795	missense variant	-	NC_000019.10:g.42335140G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro223Ser	rs1280075369	missense variant	-	NC_000019.10:g.42335143C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro223Thr	rs1280075369	missense variant	-	NC_000019.10:g.42335143C>A	gnomAD
MEGF8	Q7Z7M0	p.Ala224Thr	rs914844023	missense variant	-	NC_000019.10:g.42335146G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser226Phe	rs1272627312	missense variant	-	NC_000019.10:g.42335153C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg228Cys	rs565934429	missense variant	-	NC_000019.10:g.42335158C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg228His	rs1446825911	missense variant	-	NC_000019.10:g.42335159G>A	gnomAD
MEGF8	Q7Z7M0	p.Ile229Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42335161A>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Ile229Thr	rs1194814670	missense variant	-	NC_000019.10:g.42335162T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala232Val	rs780187231	missense variant	-	NC_000019.10:g.42335171C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly233Ser	rs1474530190	missense variant	-	NC_000019.10:g.42335173G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala234Asp	rs1458992981	missense variant	-	NC_000019.10:g.42335177C>A	gnomAD
MEGF8	Q7Z7M0	p.Ala234Ser	rs201282412	missense variant	-	NC_000019.10:g.42335176G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala234Thr	rs201282412	missense variant	-	NC_000019.10:g.42335176G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser237Tyr	rs756322438	missense variant	-	NC_000019.10:g.42335186C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser237Phe	rs756322438	missense variant	-	NC_000019.10:g.42335186C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser237Thr	rs559212665	missense variant	-	NC_000019.10:g.42335185T>A	1000Genomes,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro238Ser	rs1353262734	missense variant	-	NC_000019.10:g.42335188C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val244Leu	rs370196231	missense variant	-	NC_000019.10:g.42335206G>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly246Arg	rs367866745	missense variant	-	NC_000019.10:g.42335212G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln248Glu	rs1351055123	missense variant	-	NC_000019.10:g.42335299C>G	TOPMed
MEGF8	Q7Z7M0	p.Leu250Val	rs773064133	missense variant	-	NC_000019.10:g.42335305C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu250Phe	rs773064133	missense variant	-	NC_000019.10:g.42335305C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn251Ser	rs762625035	missense variant	-	NC_000019.10:g.42335309A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn252Asp	rs769584545	missense variant	-	NC_000019.10:g.42335311A>G	TOPMed
MEGF8	Q7Z7M0	p.Gly255Arg	rs773873521	missense variant	-	NC_000019.10:g.42335320G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly255Ser	rs773873521	missense variant	-	NC_000019.10:g.42335320G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp256Gly	rs1399438456	missense variant	-	NC_000019.10:g.42335324A>G	TOPMed
MEGF8	Q7Z7M0	p.Val258Ile	rs375853163	missense variant	-	NC_000019.10:g.42335329G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn261His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42335338A>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Asn261Ser	rs752564927	missense variant	-	NC_000019.10:g.42335339A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser263Phe	COSM3534709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42335345C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala264Val	rs1399733839	missense variant	-	NC_000019.10:g.42335348C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala264Thr	rs371198327	missense variant	-	NC_000019.10:g.42335347G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn265Asp	rs1461718601	missense variant	-	NC_000019.10:g.42335350A>G	gnomAD
MEGF8	Q7Z7M0	p.Thr266Ser	rs754073773	missense variant	-	NC_000019.10:g.42335354C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu268Lys	rs757420208	missense variant	-	NC_000019.10:g.42335359G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Trp270Arg	rs1218830475	missense variant	-	NC_000019.10:g.42335365T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp271His	rs778888305	missense variant	-	NC_000019.10:g.42335368G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp271Gly	rs1314255396	missense variant	-	NC_000019.10:g.42335369A>G	gnomAD
MEGF8	Q7Z7M0	p.Leu272Pro	rs1163973968	missense variant	-	NC_000019.10:g.42335372T>C	gnomAD
MEGF8	Q7Z7M0	p.Pro274Arg	rs758384902	missense variant	-	NC_000019.10:g.42335378C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala275Thr	rs780664531	missense variant	-	NC_000019.10:g.42335380G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro276Ser	rs1250541861	missense variant	-	NC_000019.10:g.42335383C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro276Leu	rs747511405	missense variant	-	NC_000019.10:g.42335384C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg279His	rs765439952	missense variant	-	NC_000019.10:g.42335938G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser281Tyr	rs1191150451	missense variant	-	NC_000019.10:g.42335944C>A	TOPMed
MEGF8	Q7Z7M0	p.Val283Ala	rs1255292474	missense variant	-	NC_000019.10:g.42335950T>C	TOPMed
MEGF8	Q7Z7M0	p.Ala284Ser	rs1478766879	missense variant	-	NC_000019.10:g.42335952G>T	gnomAD
MEGF8	Q7Z7M0	p.Val285Met	rs376248434	missense variant	-	NC_000019.10:g.42335955G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp287Ter	rs1165794845	stop gained	-	NC_000019.10:g.42335963G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly289Val	rs1308770564	missense variant	-	NC_000019.10:g.42335968G>T	TOPMed
MEGF8	Q7Z7M0	p.Gly289Ser	rs753588973	missense variant	-	NC_000019.10:g.42335967G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu297Lys	rs1298003744	missense variant	-	NC_000019.10:g.42335991G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp300Gly	rs535520607	missense variant	-	NC_000019.10:g.42336001A>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly301Ser	rs369528104	missense variant	-	NC_000019.10:g.42336003G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser302Leu	rs750594133	missense variant	-	NC_000019.10:g.42336007C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr304Ala	rs1215358930	missense variant	-	NC_000019.10:g.42336012A>G	gnomAD
MEGF8	Q7Z7M0	p.Asn305Ser	rs779928251	missense variant	-	NC_000019.10:g.42336016A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp306Asn	rs755505678	missense variant	-	NC_000019.10:g.42336018G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val307Met	rs201180083	missense variant	-	NC_000019.10:g.42336021G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val307Leu	rs201180083	missense variant	-	NC_000019.10:g.42336021G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp308Ter	rs1478592114	stop gained	-	NC_000019.10:g.42336025G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala309Thr	rs1010408041	missense variant	-	NC_000019.10:g.42336027G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro312Ala	rs1194634323	missense variant	-	NC_000019.10:g.42336036C>G	TOPMed
MEGF8	Q7Z7M0	p.Arg315Trp	rs745445494	missense variant	-	NC_000019.10:g.42336045A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg315Gly	rs745445494	missense variant	-	NC_000019.10:g.42336045A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly316Asp	rs774933621	missense variant	-	NC_000019.10:g.42336049G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly316Ser	rs771627803	missense variant	-	NC_000019.10:g.42336048G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His317Tyr	rs760635447	missense variant	-	NC_000019.10:g.42336051C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Trp318Cys	rs1285450981	missense variant	-	NC_000019.10:g.42336056G>C	gnomAD
MEGF8	Q7Z7M0	p.Ala322Val	rs776527811	missense variant	-	NC_000019.10:g.42336067C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro323Gln	rs761653309	missense variant	-	NC_000019.10:g.42336070C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro324Leu	rs1251375571	missense variant	-	NC_000019.10:g.42336073C>T	TOPMed
MEGF8	Q7Z7M0	p.Ala325Val	rs979965977	missense variant	-	NC_000019.10:g.42336076C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser327Gly	rs764933318	missense variant	-	NC_000019.10:g.42336081A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser328Cys	rs927098448	missense variant	-	NC_000019.10:g.42336085C>G	TOPMed
MEGF8	Q7Z7M0	p.Ser329Leu	rs750660042	missense variant	-	NC_000019.10:g.42336088C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser329Trp	rs750660042	missense variant	-	NC_000019.10:g.42336088C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala335Val	rs755090133	missense variant	-	NC_000019.10:g.42336106C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala338Thr	rs1437893178	missense variant	-	NC_000019.10:g.42336114G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala338Val	rs1178331960	missense variant	-	NC_000019.10:g.42336115C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala340Ser	rs200235162	missense variant	-	NC_000019.10:g.42336120G>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala340Thr	rs200235162	missense variant	-	NC_000019.10:g.42336120G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val342Met	rs372990477	missense variant	-	NC_000019.10:g.42336126G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val342Ala	rs866157624	missense variant	-	NC_000019.10:g.42336127T>C	TOPMed
MEGF8	Q7Z7M0	p.Asp343Gly	rs757946834	missense variant	-	NC_000019.10:g.42336130A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp344Gly	rs199720072	missense variant	-	NC_000019.10:g.42336133A>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu347Arg	rs1342837234	missense variant	-	NC_000019.10:g.42336142T>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Tyr348Phe	rs746570237	missense variant	-	NC_000019.10:g.42336145A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg353His	rs747964609	missense variant	-	NC_000019.10:g.42336160G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg353Cys	rs554274233	missense variant	-	NC_000019.10:g.42336159C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro355Leu	rs201929902	missense variant	-	NC_000019.10:g.42336166C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp357Asn	rs1270793237	missense variant	-	NC_000019.10:g.42336171G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser360Phe	RCV000487301	missense variant	-	NC_000019.10:g.42336181C>T	ClinVar
MEGF8	Q7Z7M0	p.Ser360Phe	rs1064796651	missense variant	-	NC_000019.10:g.42336181C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly362Val	rs747480874	missense variant	-	NC_000019.10:g.42336187G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly362Asp	rs747480874	missense variant	-	NC_000019.10:g.42336187G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu363Val	rs767639907	missense variant	-	NC_000019.10:g.42336189C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg365Cys	rs1377476090	missense variant	-	NC_000019.10:g.42336195C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg365His	rs753269923	missense variant	-	NC_000019.10:g.42336196G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg367Cys	rs756531536	missense variant	-	NC_000019.10:g.42336201C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg367His	rs1422086364	missense variant	-	NC_000019.10:g.42336202G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser370Gly	rs754193202	missense variant	-	NC_000019.10:g.42336210A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser370Asn	rs757618177	missense variant	-	NC_000019.10:g.42336211G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr371Ile	rs1322458603	missense variant	-	NC_000019.10:g.42336214C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser372Arg	rs746659886	missense variant	-	NC_000019.10:g.42336218C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly373Arg	rs780619794	missense variant	-	NC_000019.10:g.42336219G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val379Leu	rs769661801	missense variant	-	NC_000019.10:g.42336237G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val379Met	rs769661801	missense variant	-	NC_000019.10:g.42336237G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ile380Phe	rs773182043	missense variant	-	NC_000019.10:g.42336240A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro381Leu	rs749099841	missense variant	-	NC_000019.10:g.42336244C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly383Val	rs774720321	missense variant	-	NC_000019.10:g.42336250G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly384Arg	rs772302830	missense variant	-	NC_000019.10:g.42336252G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg385Trp	rs760775705	missense variant	-	NC_000019.10:g.42336255C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg385Gln	rs764557517	missense variant	-	NC_000019.10:g.42336256G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro386Thr	rs754356057	missense variant	-	NC_000019.10:g.42336258C>A	ExAC
MEGF8	Q7Z7M0	p.Pro386Leu	rs1425224452	missense variant	-	NC_000019.10:g.42336259C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro387Leu	rs1162326420	missense variant	-	NC_000019.10:g.42336262C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala388Pro	rs200502457	missense variant	-	NC_000019.10:g.42336264G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala388Thr	rs200502457	missense variant	-	NC_000019.10:g.42336264G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala389Val	rs1187723042	missense variant	-	NC_000019.10:g.42336268C>T	TOPMed
MEGF8	Q7Z7M0	p.Thr390Ser	rs954272475	missense variant	-	NC_000019.10:g.42336271C>G	TOPMed
MEGF8	Q7Z7M0	p.Ser393Phe	COSM3534715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42336280C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Met394Val	rs751222342	missense variant	-	NC_000019.10:g.42336282A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val395Met	rs754572887	missense variant	-	NC_000019.10:g.42336285G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala398Val	rs780709754	missense variant	-	NC_000019.10:g.42336295C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro399Ser	rs1329643001	missense variant	-	NC_000019.10:g.42336297C>T	TOPMed
MEGF8	Q7Z7M0	p.Ser400ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42336295C>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg401Cys	rs1342492113	missense variant	-	NC_000019.10:g.42336303C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg401His	rs1242665700	missense variant	-	NC_000019.10:g.42336304G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala402Ser	rs777642371	missense variant	-	NC_000019.10:g.42336306G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala402Thr	rs777642371	missense variant	-	NC_000019.10:g.42336306G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val405Ala	rs1357365314	missense variant	-	NC_000019.10:g.42336316T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly408Glu	rs770863873	missense variant	-	NC_000019.10:g.42336325G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.His409Gln	rs1488161372	missense variant	-	NC_000019.10:g.42336329C>A	gnomAD
MEGF8	Q7Z7M0	p.His409Tyr	rs961326384	missense variant	-	NC_000019.10:g.42336327C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg410Trp	rs755656068	missense variant	-	NC_000019.10:g.42336330C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg410Gln	rs370518508	missense variant	-	NC_000019.10:g.42336331G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro411Leu	rs746125032	missense variant	-	NC_000019.10:g.42336334C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro411Ser	COSM3534717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42336333C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg415Trp	rs775756534	missense variant	-	NC_000019.10:g.42336345C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg415Gln	rs760723521	missense variant	-	NC_000019.10:g.42336346G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser417Pro	rs770322892	missense variant	-	NC_000019.10:g.42336811T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val418Ala	rs1306719236	missense variant	-	NC_000019.10:g.42336815T>C	TOPMed
MEGF8	Q7Z7M0	p.Arg419Gln	rs1257064827	missense variant	-	NC_000019.10:g.42336818G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg419Ter	rs1222471099	stop gained	-	NC_000019.10:g.42336817C>T	TOPMed
MEGF8	Q7Z7M0	p.Val420Met	rs763379149	missense variant	-	NC_000019.10:g.42336820G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn421Ile	rs775022715	missense variant	-	NC_000019.10:g.42336824A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Phe426Ser	rs1180065982	missense variant	-	NC_000019.10:g.42336839T>C	gnomAD
MEGF8	Q7Z7M0	p.Val428Met	rs200630623	missense variant	-	NC_000019.10:g.42336844G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val428Leu	rs200630623	missense variant	-	NC_000019.10:g.42336844G>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp429Glu	COSM4904760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42336849T>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg430Gln	rs375504309	missense variant	-	NC_000019.10:g.42336851G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg430Leu	rs375504309	missense variant	-	NC_000019.10:g.42336851G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg430Trp	rs765321277	missense variant	-	NC_000019.10:g.42336850C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val432Leu	rs544335371	missense variant	-	NC_000019.10:g.42336856G>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr434Met	rs747214327	missense variant	-	NC_000019.10:g.42336863C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr435Met	rs200021307	missense variant	-	NC_000019.10:g.42336866C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly438Trp	rs1302353391	missense variant	-	NC_000019.10:g.42336874G>T	gnomAD
MEGF8	Q7Z7M0	p.Arg439Trp	RCV000482837	missense variant	-	NC_000019.10:g.42336877C>T	ClinVar
MEGF8	Q7Z7M0	p.Arg439Trp	rs769862975	missense variant	-	NC_000019.10:g.42336877C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg439Gln	rs922693299	missense variant	-	NC_000019.10:g.42336878G>A	gnomAD
MEGF8	Q7Z7M0	p.Gln443Pro	rs544659951	missense variant	-	NC_000019.10:g.42336890A>C	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln443Glu	rs773716450	missense variant	-	NC_000019.10:g.42336889C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln443Ter	rs773716450	stop gained	-	NC_000019.10:g.42336889C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly444Ser	rs771222674	missense variant	-	NC_000019.10:g.42336892G>A	ExAC,TOPMed
MEGF8	Q7Z7M0	p.Pro445Ala	rs774738057	missense variant	-	NC_000019.10:g.42336895C>G	ExAC,TOPMed
MEGF8	Q7Z7M0	p.Arg446Gly	rs1050935063	missense variant	-	NC_000019.10:g.42336898A>G	gnomAD
MEGF8	Q7Z7M0	p.Arg446Thr	rs759790038	missense variant	-	NC_000019.10:g.42336899G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg448Gln	rs1228621761	missense variant	-	NC_000019.10:g.42336905G>A	TOPMed
MEGF8	Q7Z7M0	p.Arg448Ter	RCV000033074	nonsense	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42336904C>T	ClinVar
MEGF8	Q7Z7M0	p.Arg448Ter	rs397514621	stop gained	-	NC_000019.10:g.42336904C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala449Val	rs865933373	missense variant	-	NC_000019.10:g.42336908C>T	TOPMed
MEGF8	Q7Z7M0	p.Ala449Asp	rs865933373	missense variant	-	NC_000019.10:g.42336908C>A	TOPMed
MEGF8	Q7Z7M0	p.Phe450Leu	rs763858957	missense variant	-	NC_000019.10:g.42336910T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.His451Arg	rs1388741446	missense variant	-	NC_000019.10:g.42336914A>G	gnomAD
MEGF8	Q7Z7M0	p.Thr452Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42336917C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala453Gly	rs761480799	missense variant	-	NC_000019.10:g.42336920C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val455Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42336926T>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly457Asp	rs1423087578	missense variant	-	NC_000019.10:g.42336932G>A	gnomAD
MEGF8	Q7Z7M0	p.Met460Leu	rs764773192	missense variant	-	NC_000019.10:g.42336940A>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met460Val	rs764773192	missense variant	-	NC_000019.10:g.42336940A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val462Phe	rs1348379113	missense variant	-	NC_000019.10:g.42336946G>T	gnomAD
MEGF8	Q7Z7M0	p.Tyr463Cys	rs963924670	missense variant	-	NC_000019.10:g.42336950A>G	TOPMed
MEGF8	Q7Z7M0	p.Gly465Ser	rs769451119	missense variant	-	NC_000019.10:g.42337086G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn466Ser	rs1377791176	missense variant	-	NC_000019.10:g.42337090A>G	gnomAD
MEGF8	Q7Z7M0	p.Val467Met	rs1295527134	missense variant	-	NC_000019.10:g.42337092G>A	TOPMed
MEGF8	Q7Z7M0	p.Thr469Ala	rs762337124	missense variant	-	NC_000019.10:g.42337098A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln472Arg	COSM997343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42337108A>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Glu474Gln	rs751435946	missense variant	-	NC_000019.10:g.42337113G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Tyr477Asn	rs1372579036	missense variant	-	NC_000019.10:g.42337122T>A	TOPMed
MEGF8	Q7Z7M0	p.Glu478Lys	rs1207858447	missense variant	-	NC_000019.10:g.42337125G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp479His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42337128G>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly480Ser	rs1235865523	missense variant	-	NC_000019.10:g.42337131G>A	gnomAD
MEGF8	Q7Z7M0	p.Ile481Asn	rs370287880	missense variant	-	NC_000019.10:g.42337135T>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ile481Thr	rs370287880	missense variant	-	NC_000019.10:g.42337135T>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Phe482Leu	rs141773838	missense variant	-	NC_000019.10:g.42337139C>A	ESP,TOPMed
MEGF8	Q7Z7M0	p.Phe482Ser	rs756293002	missense variant	-	NC_000019.10:g.42337138T>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Tyr484His	rs1438010083	missense variant	-	NC_000019.10:g.42337143T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His485Tyr	COSM3422863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42337146C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gln490Arg	rs754002454	missense variant	-	NC_000019.10:g.42337162A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu496Lys	rs779538653	missense variant	-	NC_000019.10:g.42337179G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro499Leu	rs993849381	missense variant	-	NC_000019.10:g.42337189C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro499ArgPheSerTerUnkUnk	COSM1394106	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42337186C>-	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Thr502Ala	rs1344184170	missense variant	-	NC_000019.10:g.42337197A>G	TOPMed
MEGF8	Q7Z7M0	p.Thr502Ser	rs780513971	missense variant	-	NC_000019.10:g.42337198C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu504Lys	rs747833755	missense variant	-	NC_000019.10:g.42337203G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly505Ser	rs769609153	missense variant	-	NC_000019.10:g.42337206G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg506Ter	rs1316132334	stop gained	-	NC_000019.10:g.42343479C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala508Val	rs555480088	missense variant	-	NC_000019.10:g.42343486C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro510Leu	COSM4468146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343492C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg513Gln	rs1246418859	missense variant	-	NC_000019.10:g.42343501G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg513Trp	rs1197238420	missense variant	-	NC_000019.10:g.42343500C>T	gnomAD
MEGF8	Q7Z7M0	p.Tyr514Phe	COSM3534719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343504A>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ser515Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.42343507C>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Val517Leu	rs1299943165	missense variant	-	NC_000019.10:g.42343512G>T	gnomAD
MEGF8	Q7Z7M0	p.Ala519Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42343518G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala519Val	rs972539405	missense variant	-	NC_000019.10:g.42343519C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala519Ser	rs1420921850	missense variant	-	NC_000019.10:g.42343518G>T	gnomAD
MEGF8	Q7Z7M0	p.Leu521Phe	COSM3534722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343524C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Val525Ile	rs760533124	missense variant	-	NC_000019.10:g.42343536G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu527Phe	rs1276189717	missense variant	-	NC_000019.10:g.42343544G>T	gnomAD
MEGF8	Q7Z7M0	p.Ala529Val	rs761889161	missense variant	-	NC_000019.10:g.42343549C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Tyr532ThrPheSerTerUnk	COSM1394112	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42343551G>-	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly534Ser	rs750508368	missense variant	-	NC_000019.10:g.42343563G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly534Asp	COSM5114809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343564G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg535Trp	rs758529363	missense variant	-	NC_000019.10:g.42343566C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg535Gln	rs767049386	missense variant	-	NC_000019.10:g.42343567G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg535Leu	rs767049386	missense variant	-	NC_000019.10:g.42343567G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro536Thr	rs752106496	missense variant	-	NC_000019.10:g.42343569C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg537Cys	rs755408868	missense variant	-	NC_000019.10:g.42343572C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg537His	rs926015247	missense variant	-	NC_000019.10:g.42343573G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly538Arg	rs1261629394	missense variant	-	NC_000019.10:g.42343575G>A	gnomAD
MEGF8	Q7Z7M0	p.Leu540Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42343583G>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Leu540Met	rs138359626	missense variant	-	NC_000019.10:g.42343581T>A	ESP,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala542Val	rs759983093	missense variant	-	NC_000019.10:g.42343588C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val545Met	rs749001871	missense variant	-	NC_000019.10:g.42343596G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro546His	rs1211505410	missense variant	-	NC_000019.10:g.42343600C>A	gnomAD
MEGF8	Q7Z7M0	p.Pro546Ser	rs756900845	missense variant	-	NC_000019.10:g.42343599C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro547His	rs745444778	missense variant	-	NC_000019.10:g.42343603C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala552Glu	rs1359856325	missense variant	-	NC_000019.10:g.42343618C>A	gnomAD
MEGF8	Q7Z7M0	p.Pro553Ala	rs1296394702	missense variant	-	NC_000019.10:g.42343620C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala554Ser	rs1328258068	missense variant	-	NC_000019.10:g.42343623G>T	gnomAD
MEGF8	Q7Z7M0	p.Pro555Leu	rs768515891	missense variant	-	NC_000019.10:g.42343627C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro555Arg	rs768515891	missense variant	-	NC_000019.10:g.42343627C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro555Ala	rs562426921	missense variant	-	NC_000019.10:g.42343626C>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro555Thr	rs562426921	missense variant	-	NC_000019.10:g.42343626C>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp556Asn	rs1360682261	missense variant	-	NC_000019.10:g.42343629G>A	gnomAD
MEGF8	Q7Z7M0	p.His558Gln	rs747950293	missense variant	-	NC_000019.10:g.42343959C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Tyr561His	rs769625761	missense variant	-	NC_000019.10:g.42343966T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys562Arg	rs773571582	missense variant	-	NC_000019.10:g.42343969T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys562Phe	rs763220781	missense variant	-	NC_000019.10:g.42343970G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser563Phe	COSM3534725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42343973C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Met564Arg	rs1309551308	missense variant	-	NC_000019.10:g.42343976T>G	gnomAD
MEGF8	Q7Z7M0	p.Thr566Ala	rs1012606989	missense variant	-	NC_000019.10:g.42343981A>G	TOPMed
MEGF8	Q7Z7M0	p.Asp567Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42343984G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.His568Tyr	rs369202655	missense variant	-	NC_000019.10:g.42343987C>T	ESP,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val570Ile	rs767970851	missense variant	-	NC_000019.10:g.42343993G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg573Gln	rs760954782	missense variant	-	NC_000019.10:g.42344003G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg573Trp	rs369696855	missense variant	-	NC_000019.10:g.42344002C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro575Leu	rs373575110	missense variant	-	NC_000019.10:g.42344009C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu576Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42344012A>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Cys580Gly	COSM1712406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42344023T>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala583Pro	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42344032G>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala586Val	rs1462626963	missense variant	-	NC_000019.10:g.42344042C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala586Gly	rs1462626963	missense variant	-	NC_000019.10:g.42344042C>G	gnomAD
MEGF8	Q7Z7M0	p.Pro588His	rs779646470	missense variant	-	NC_000019.10:g.42344048C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro588Leu	rs779646470	missense variant	-	NC_000019.10:g.42344048C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro588Thr	rs758003145	missense variant	-	NC_000019.10:g.42344047C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro588Arg	rs779646470	missense variant	-	NC_000019.10:g.42344048C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro589His	rs377009181	missense variant	-	NC_000019.10:g.42344051C>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro589Ala	rs781058253	missense variant	-	NC_000019.10:g.42344050C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro593Leu	rs1216603294	missense variant	-	NC_000019.10:g.42344063C>T	TOPMed
MEGF8	Q7Z7M0	p.Gly595Glu	rs777672123	missense variant	-	NC_000019.10:g.42344069G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala596Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42344072C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala596Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42344072C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala596Thr	rs1307725029	missense variant	-	NC_000019.10:g.42344071G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro598Leu	COSM3534734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42344445C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro598Ser	COSM3534731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42344444C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala599Val	rs1214967194	missense variant	-	NC_000019.10:g.42344448C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala600Val	rs1188554157	missense variant	-	NC_000019.10:g.42344451C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala600Thr	rs779285900	missense variant	-	NC_000019.10:g.42344450G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser601Asn	rs1383636753	missense variant	-	NC_000019.10:g.42344454G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly604Ser	rs1212299434	missense variant	-	NC_000019.10:g.42344462G>A	gnomAD
MEGF8	Q7Z7M0	p.Leu605Val	rs772070723	missense variant	-	NC_000019.10:g.42344465C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly606Val	rs1418474530	missense variant	-	NC_000019.10:g.42344469G>T	gnomAD
MEGF8	Q7Z7M0	p.Arg607Cys	rs747026334	missense variant	-	NC_000019.10:g.42344471C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg607His	rs769196067	missense variant	-	NC_000019.10:g.42344472G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu608Ile	rs1381630142	missense variant	-	NC_000019.10:g.42344474C>A	gnomAD
MEGF8	Q7Z7M0	p.Gly610Asp	rs1260348011	missense variant	-	NC_000019.10:g.42344481G>A	TOPMed
MEGF8	Q7Z7M0	p.Asp611Glu	rs372468505	missense variant	-	NC_000019.10:g.42344485C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys612Phe	rs1223186859	missense variant	-	NC_000019.10:g.42344487G>T	gnomAD
MEGF8	Q7Z7M0	p.Ala617Thr	rs1465911816	missense variant	-	NC_000019.10:g.42344501G>A	TOPMed
MEGF8	Q7Z7M0	p.Ala617Val	rs1218076278	missense variant	-	NC_000019.10:g.42344502C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser619Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42344508G>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Ser620Ile	rs1241283926	missense variant	-	NC_000019.10:g.42344511G>T	gnomAD
MEGF8	Q7Z7M0	p.Arg626Gln	rs773886995	missense variant	-	NC_000019.10:g.42344529G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg626Trp	rs369796236	missense variant	-	NC_000019.10:g.42344528C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly627Glu	rs759178290	missense variant	-	NC_000019.10:g.42344532G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro628His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42344535C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly629Asp	rs767048124	missense variant	-	NC_000019.10:g.42344538G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr630Ser	rs755672509	missense variant	-	NC_000019.10:g.42344541C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Trp633Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42344549T>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Cys634Arg	rs1374446512	missense variant	-	NC_000019.10:g.42344552T>C	gnomAD
MEGF8	Q7Z7M0	p.Val635Met	rs746105455	missense variant	-	NC_000019.10:g.42344555G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn637Ser	rs369191682	missense variant	-	NC_000019.10:g.42344562A>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu638Lys	rs1261405591	missense variant	-	NC_000019.10:g.42344564G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser639Asn	rs1204592871	missense variant	-	NC_000019.10:g.42344568G>A	gnomAD
MEGF8	Q7Z7M0	p.Cys640Tyr	rs1313345333	missense variant	-	NC_000019.10:g.42344571G>A	gnomAD
MEGF8	Q7Z7M0	p.Leu641Phe	RCV000650612	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42344573C>T	ClinVar
MEGF8	Q7Z7M0	p.Leu641Phe	rs1555781030	missense variant	-	NC_000019.10:g.42344573C>T	-
MEGF8	Q7Z7M0	p.Pro642Ser	rs748593827	missense variant	-	NC_000019.10:g.42344576C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro642Arg	rs770165316	missense variant	-	NC_000019.10:g.42344577C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro644His	rs1471473373	missense variant	-	NC_000019.10:g.42344583C>A	gnomAD
MEGF8	Q7Z7M0	p.Glu645Val	rs1244275238	missense variant	-	NC_000019.10:g.42344670A>T	gnomAD
MEGF8	Q7Z7M0	p.Glu645Asp	rs1291408939	missense variant	-	NC_000019.10:g.42344671G>C	gnomAD
MEGF8	Q7Z7M0	p.Gln646Lys	rs201134458	missense variant	-	NC_000019.10:g.42344672C>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln646Arg	rs1225354048	missense variant	-	NC_000019.10:g.42344673A>G	gnomAD
MEGF8	Q7Z7M0	p.Gln646Glu	rs201134458	missense variant	-	NC_000019.10:g.42344672C>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg648His	rs765273470	missense variant	-	NC_000019.10:g.42344679G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg648Cys	rs761382753	missense variant	-	NC_000019.10:g.42344678C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys649Ter	rs908158416	stop gained	-	NC_000019.10:g.42344683C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg650Ter	rs750318898	stop gained	-	NC_000019.10:g.42344684C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg650Gln	rs892346905	missense variant	-	NC_000019.10:g.42344685G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly651Arg	rs1374463978	missense variant	-	NC_000019.10:g.42344687G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly651Val	rs762810587	missense variant	-	NC_000019.10:g.42344688G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly651Glu	rs762810587	missense variant	-	NC_000019.10:g.42344688G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln653Ter	rs940923490	stop gained	-	NC_000019.10:g.42344693C>T	TOPMed
MEGF8	Q7Z7M0	p.Ile654Val	rs766029134	missense variant	-	NC_000019.10:g.42344696A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser655Ter	rs751800916	stop gained	-	NC_000019.10:g.42344700C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly659Val	rs1382940554	missense variant	-	NC_000019.10:g.42344712G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp660Arg	rs1381740413	missense variant	-	NC_000019.10:g.42344714T>C	gnomAD
MEGF8	Q7Z7M0	p.Pro663Thr	rs1029699368	missense variant	-	NC_000019.10:g.42344723C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro663Ser	rs1029699368	missense variant	-	NC_000019.10:g.42344723C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala664Val	rs1412725691	missense variant	-	NC_000019.10:g.42344727C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro665Ser	rs1239024884	missense variant	-	NC_000019.10:g.42344729C>T	TOPMed
MEGF8	Q7Z7M0	p.Val668Phe	rs749703192	missense variant	-	NC_000019.10:g.42344738G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val668Ile	rs749703192	missense variant	-	NC_000019.10:g.42344738G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr669Met	rs370121559	missense variant	-	NC_000019.10:g.42344742C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu672Gln	rs139182618	missense variant	-	NC_000019.10:g.42344750G>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu672Lys	rs139182618	missense variant	-	NC_000019.10:g.42344750G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val675Ile	rs374100226	missense variant	-	NC_000019.10:g.42344759G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln677Arg	rs535539556	missense variant	-	NC_000019.10:g.42344766A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln677Leu	rs535539556	missense variant	-	NC_000019.10:g.42344766A>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Phe679Tyr	rs1446204125	missense variant	-	NC_000019.10:g.42344772T>A	gnomAD
MEGF8	Q7Z7M0	p.Leu680Gln	rs199665461	missense variant	-	NC_000019.10:g.42344775T>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu685Val	rs762749073	missense variant	-	NC_000019.10:g.42344789T>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Phe688Leu	rs766228120	missense variant	-	NC_000019.10:g.42344798T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln689His	rs1159232126	missense variant	-	NC_000019.10:g.42344803G>T	gnomAD
MEGF8	Q7Z7M0	p.Pro691Leu	rs774171456	missense variant	-	NC_000019.10:g.42344808C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn693Ser	rs142485616	missense variant	-	NC_000019.10:g.42344814A>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr694Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42344816A>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Thr694Ile	rs201674841	missense variant	-	NC_000019.10:g.42344817C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr694Asn	rs201674841	missense variant	-	NC_000019.10:g.42344817C>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp698Gly	rs756232567	missense variant	-	NC_000019.10:g.42344829A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val700Ile	rs1476990555	missense variant	-	NC_000019.10:g.42348272G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ile702Val	rs1222401467	missense variant	-	NC_000019.10:g.42348278A>G	gnomAD
MEGF8	Q7Z7M0	p.Arg704His	rs1313603221	missense variant	-	NC_000019.10:g.42348285G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg704Cys	rs1283291659	missense variant	-	NC_000019.10:g.42348284C>T	gnomAD
MEGF8	Q7Z7M0	p.Thr706Arg	rs772522369	missense variant	-	NC_000019.10:g.42348291C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr706Met	rs772522369	missense variant	-	NC_000019.10:g.42348291C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr709Ser	rs1197535601	missense variant	-	NC_000019.10:g.42348299A>T	gnomAD
MEGF8	Q7Z7M0	p.Leu710Pro	rs1266713719	missense variant	-	NC_000019.10:g.42348303T>C	gnomAD
MEGF8	Q7Z7M0	p.Ser713Asn	rs1430011191	missense variant	-	NC_000019.10:g.42348312G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser713Arg	rs377090768	missense variant	-	NC_000019.10:g.42348313C>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala714Ser	rs368461816	missense variant	-	NC_000019.10:g.42348314G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala714Thr	rs368461816	missense variant	-	NC_000019.10:g.42348314G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr716Ala	rs1156709984	missense variant	-	NC_000019.10:g.42348320A>G	gnomAD
MEGF8	Q7Z7M0	p.Thr716Ile	rs764350769	missense variant	-	NC_000019.10:g.42348321C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp717Asn	rs935356839	missense variant	-	NC_000019.10:g.42348323G>A	gnomAD
MEGF8	Q7Z7M0	p.Val721Phe	rs1404815017	missense variant	-	NC_000019.10:g.42348335G>T	gnomAD
MEGF8	Q7Z7M0	p.Arg723Cys	rs996289561	missense variant	-	NC_000019.10:g.42348341C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg723His	rs1359429535	missense variant	-	NC_000019.10:g.42348342G>A	TOPMed
MEGF8	Q7Z7M0	p.Gly724Arg	rs1212483048	missense variant	-	NC_000019.10:g.42348344G>C	gnomAD
MEGF8	Q7Z7M0	p.Phe725Ile	rs1050470092	missense variant	-	NC_000019.10:g.42348347T>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro728Leu	rs1382077675	missense variant	-	NC_000019.10:g.42348357C>T	TOPMed
MEGF8	Q7Z7M0	p.Met729Val	rs907241217	missense variant	-	NC_000019.10:g.42348359A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly735Asp	rs1289243165	missense variant	-	NC_000019.10:g.42348378G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly736Arg	rs1001482515	missense variant	-	NC_000019.10:g.42348380G>A	TOPMed
MEGF8	Q7Z7M0	p.Pro737Gln	rs1223124013	missense variant	-	NC_000019.10:g.42348384C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro737Arg	rs1223124013	missense variant	-	NC_000019.10:g.42348384C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp741Tyr	rs1489489831	missense variant	-	NC_000019.10:g.42348395G>T	gnomAD
MEGF8	Q7Z7M0	p.Val742Met	rs1261334999	missense variant	-	NC_000019.10:g.42348398G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala743Pro	rs1429268808	missense variant	-	NC_000019.10:g.42348401G>C	gnomAD
MEGF8	Q7Z7M0	p.Ala743Asp	rs995652263	missense variant	-	NC_000019.10:g.42348402C>A	TOPMed
MEGF8	Q7Z7M0	p.Val744Met	rs1015184528	missense variant	-	NC_000019.10:g.42348404G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val744Leu	rs1015184528	missense variant	-	NC_000019.10:g.42348404G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr746Ser	rs780516160	missense variant	-	NC_000019.10:g.42348410A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr746Met	rs1164738747	missense variant	-	NC_000019.10:g.42348411C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg747Gln	rs747864649	missense variant	-	NC_000019.10:g.42348414G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln749Ter	rs755762002	stop gained	-	NC_000019.10:g.42348419C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg750Cys	rs951718542	missense variant	-	NC_000019.10:g.42348422C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg750His	rs1312728447	missense variant	-	NC_000019.10:g.42348423G>A	gnomAD
MEGF8	Q7Z7M0	p.His752Gln	rs566246088	missense variant	-	NC_000019.10:g.42348430C>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val753Ile	rs1246678294	missense variant	-	NC_000019.10:g.42348431G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg756Gln	rs1315012536	missense variant	-	NC_000019.10:g.42348441G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg756Trp	rs1291962165	missense variant	-	NC_000019.10:g.42348440C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg759Cys	rs776281127	missense variant	-	NC_000019.10:g.42348449C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg759His	rs1465559937	missense variant	-	NC_000019.10:g.42348450G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg759Leu	rs1465559937	missense variant	-	NC_000019.10:g.42348450G>T	gnomAD
MEGF8	Q7Z7M0	p.Thr763Met	rs912796877	missense variant	-	NC_000019.10:g.42348462C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg771Leu	rs751917185	missense variant	-	NC_000019.10:g.42349512G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg771His	rs751917185	missense variant	-	NC_000019.10:g.42349512G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg771Cys	rs766961466	missense variant	-	NC_000019.10:g.42349511C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His775Leu	rs1352538245	missense variant	-	NC_000019.10:g.42349524A>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His775Arg	rs1352538245	missense variant	-	NC_000019.10:g.42349524A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln776Ter	rs755366410	stop gained	-	NC_000019.10:g.42349526C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln776His	rs1280044524	missense variant	-	NC_000019.10:g.42349528G>T	gnomAD
MEGF8	Q7Z7M0	p.Glu777Lys	COSM6150884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349529G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Thr780Ala	rs777295481	missense variant	-	NC_000019.10:g.42349538A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr780Met	rs549937261	missense variant	-	NC_000019.10:g.42349539C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr780Pro	COSM6150881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349538A>C	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg781Gln	rs146355445	missense variant	-	NC_000019.10:g.42349542G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg781Trp	rs745353025	missense variant	-	NC_000019.10:g.42349541C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg782Leu	rs1436403322	missense variant	-	NC_000019.10:g.42349545G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg782Gln	rs1436403322	missense variant	-	NC_000019.10:g.42349545G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg782Trp	rs1281253733	missense variant	-	NC_000019.10:g.42349544C>T	gnomAD
MEGF8	Q7Z7M0	p.Leu783Val	rs780031708	missense variant	-	NC_000019.10:g.42349547C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln784Ter	rs1253200993	stop gained	-	NC_000019.10:g.42349550C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg785Cys	rs746842471	missense variant	-	NC_000019.10:g.42349553C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg785His	COSM1481139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349554G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro786Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42349557C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro786Ala	rs1427969966	missense variant	-	NC_000019.10:g.42349556C>G	gnomAD
MEGF8	Q7Z7M0	p.Pro786Arg	rs114954140	missense variant	-	NC_000019.10:g.42349557C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly787Trp	rs1173936888	missense variant	-	NC_000019.10:g.42349559G>T	gnomAD
MEGF8	Q7Z7M0	p.Ala789Ser	COSM4924813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349565G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg790His	rs745557568	missense variant	-	NC_000019.10:g.42349569G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg790Cys	rs544202578	missense variant	-	NC_000019.10:g.42349568C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg790Leu	rs745557568	missense variant	-	NC_000019.10:g.42349569G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu791Ile	COSM997351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349571C>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Phe792Leu	rs1402965580	missense variant	-	NC_000019.10:g.42349574T>C	gnomAD
MEGF8	Q7Z7M0	p.Phe792Leu	rs1301438913	missense variant	-	NC_000019.10:g.42349576C>A	gnomAD
MEGF8	Q7Z7M0	p.Pro793Ser	rs972059706	missense variant	-	NC_000019.10:g.42349577C>T	TOPMed
MEGF8	Q7Z7M0	p.Pro795Thr	rs919236826	missense variant	-	NC_000019.10:g.42349583C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro795Leu	rs1437511341	missense variant	-	NC_000019.10:g.42349584C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg797Gln	rs368683081	missense variant	-	NC_000019.10:g.42349590G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg797Trp	rs1337643987	missense variant	-	NC_000019.10:g.42349589C>T	gnomAD
MEGF8	Q7Z7M0	p.Asp798Asn	rs1203020777	missense variant	-	NC_000019.10:g.42349592G>A	gnomAD
MEGF8	Q7Z7M0	p.Lys800Arg	rs944050655	missense variant	-	NC_000019.10:g.42349599A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Tyr801Ter	rs767876302	stop gained	-	NC_000019.10:g.42349603T>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val803Ile	rs1200311796	missense variant	-	NC_000019.10:g.42349607G>A	gnomAD
MEGF8	Q7Z7M0	p.Gln806His	rs184412435	missense variant	-	NC_000019.10:g.42349618G>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln806Ter	rs1240032863	stop gained	-	NC_000019.10:g.42349616C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly807Cys	rs1169002649	missense variant	-	NC_000019.10:g.42349619G>T	gnomAD
MEGF8	Q7Z7M0	p.Asn810Ser	rs1422741735	missense variant	-	NC_000019.10:g.42349629A>G	gnomAD
MEGF8	Q7Z7M0	p.Gly811Ser	rs1390174601	missense variant	-	NC_000019.10:g.42349631G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser812Leu	rs372613242	missense variant	-	NC_000019.10:g.42349635C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala813Thr	rs1167963909	missense variant	-	NC_000019.10:g.42349637G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly816Arg	rs746904563	missense variant	-	NC_000019.10:g.42349646G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.His817Arg	rs151116615	missense variant	-	NC_000019.10:g.42349650A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His817Tyr	rs1430256867	missense variant	-	NC_000019.10:g.42349649C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser818Asn	rs747919363	missense variant	-	NC_000019.10:g.42349653G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser818Gly	rs780999517	missense variant	-	NC_000019.10:g.42349652A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu819Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42349656A>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Glu819Lys	rs1424452415	missense variant	-	NC_000019.10:g.42349655G>A	TOPMed
MEGF8	Q7Z7M0	p.Leu823Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42349667C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Asp825Gly	COSM4078751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349674A>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg826Gln	rs775071124	missense variant	-	NC_000019.10:g.42349677G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg826Trp	rs749384463	missense variant	-	NC_000019.10:g.42349676C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly828Ser	rs1446128695	missense variant	-	NC_000019.10:g.42349682G>A	gnomAD
MEGF8	Q7Z7M0	p.Val829Met	rs530378456	missense variant	-	NC_000019.10:g.42349685G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro830Arg	rs774744502	missense variant	-	NC_000019.10:g.42349689C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly831Glu	rs1442524232	missense variant	-	NC_000019.10:g.42349692G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser833Arg	COSM1394121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42349699C>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Phe837Ser	rs1302692979	missense variant	-	NC_000019.10:g.42350158T>C	gnomAD
MEGF8	Q7Z7M0	p.Pro842Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42350172C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg844Cys	rs755969171	missense variant	-	NC_000019.10:g.42350178C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg844His	rs1327415941	missense variant	-	NC_000019.10:g.42350179G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser845Leu	rs1228508440	missense variant	-	NC_000019.10:g.42350182C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser846Leu	rs148207079	missense variant	-	NC_000019.10:g.42350185C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser846Pro	COSM261963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42350184T>C	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Cys848Tyr	rs1256406330	missense variant	-	NC_000019.10:g.42350191G>A	gnomAD
MEGF8	Q7Z7M0	p.Thr849Ile	rs745915167	missense variant	-	NC_000019.10:g.42350194C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser850Phe	rs921232961	missense variant	-	NC_000019.10:g.42350197C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Tyr851Cys	rs1249769083	missense variant	-	NC_000019.10:g.42350200A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Tyr851Phe	rs1249769083	missense variant	-	NC_000019.10:g.42350200A>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser853Phe	rs1183003484	missense variant	-	NC_000019.10:g.42350206C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly856Cys	rs1479618243	missense variant	-	NC_000019.10:g.42350214G>T	gnomAD
MEGF8	Q7Z7M0	p.Ala859Val	rs1175589590	missense variant	-	NC_000019.10:g.42350224C>T	gnomAD
MEGF8	Q7Z7M0	p.Gln861Ter	rs954115363	stop gained	-	NC_000019.10:g.42350229C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly862Asp	rs1467923818	missense variant	-	NC_000019.10:g.42350233G>A	gnomAD
MEGF8	Q7Z7M0	p.Cys863Arg	rs1166479097	missense variant	-	NC_000019.10:g.42350235T>C	gnomAD
MEGF8	Q7Z7M0	p.Cys866Trp	rs1410920469	missense variant	-	NC_000019.10:g.42350246C>G	gnomAD
MEGF8	Q7Z7M0	p.Cys866Gly	rs775976318	missense variant	-	NC_000019.10:g.42350244T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala870Val	COSM997357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42350257C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.His873Tyr	rs1301566794	missense variant	-	NC_000019.10:g.42350265C>T	gnomAD
MEGF8	Q7Z7M0	p.Leu874Val	rs545610720	missense variant	-	NC_000019.10:g.42350268C>G	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg875Cys	rs762624155	missense variant	-	NC_000019.10:g.42350271C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg875His	rs149768800	missense variant	-	NC_000019.10:g.42350272G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly877Asp	rs1207205974	missense variant	-	NC_000019.10:g.42350278G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly878Arg	rs754432292	missense variant	-	NC_000019.10:g.42350280G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala879Val	rs1321978791	missense variant	-	NC_000019.10:g.42350284C>T	TOPMed
MEGF8	Q7Z7M0	p.Ala879Ser	rs147886477	missense variant	-	NC_000019.10:g.42350283G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His880Tyr	rs1435063534	missense variant	-	NC_000019.10:g.42350286C>T	gnomAD
MEGF8	Q7Z7M0	p.His880Arg	rs1447066779	missense variant	-	NC_000019.10:g.42350287A>G	gnomAD
MEGF8	Q7Z7M0	p.Cys881Arg	rs755995994	missense variant	-	NC_000019.10:g.42350289T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys881Tyr	rs1389934553	missense variant	-	NC_000019.10:g.42350290G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly882Arg	rs147068787	missense variant	-	NC_000019.10:g.42350292G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp883Asn	rs1364196781	missense variant	-	NC_000019.10:g.42350295G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp884Glu	rs200383522	missense variant	-	NC_000019.10:g.42350300C>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp884Asn	COSM5073521	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42350298G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly885Arg	rs746031284	missense variant	-	NC_000019.10:g.42350301G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly885Glu	rs771983135	missense variant	-	NC_000019.10:g.42350302G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala886Gly	rs1296683820	missense variant	-	NC_000019.10:g.42350305C>G	gnomAD
MEGF8	Q7Z7M0	p.Gly887Asp	rs1365622775	missense variant	-	NC_000019.10:g.42350308G>A	gnomAD
MEGF8	Q7Z7M0	p.Leu893Val	rs540243963	missense variant	-	NC_000019.10:g.42350325C>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr896Asn	rs1220937266	missense variant	-	NC_000019.10:g.42350335C>A	gnomAD
MEGF8	Q7Z7M0	p.Leu897Phe	rs777017134	missense variant	-	NC_000019.10:g.42350337C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro899Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42350344C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro899Ala	rs1186872690	missense variant	-	NC_000019.10:g.42350343C>G	gnomAD
MEGF8	Q7Z7M0	p.Leu900Ile	rs762059116	missense variant	-	NC_000019.10:g.42350346C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu902Gly	rs1383927945	missense variant	-	NC_000019.10:g.42350353A>G	gnomAD
MEGF8	Q7Z7M0	p.Glu902Lys	rs773870498	missense variant	-	NC_000019.10:g.42350352G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu903Asp	COSM261966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42350357G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg905Gln	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42350362G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg905Trp	rs375529059	missense variant	-	NC_000019.10:g.42350361C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp906Tyr	rs1351111807	missense variant	-	NC_000019.10:g.42350364G>T	gnomAD
MEGF8	Q7Z7M0	p.His908Arg	rs1316350508	missense variant	-	NC_000019.10:g.42350371A>G	TOPMed
MEGF8	Q7Z7M0	p.His908Gln	rs752713774	missense variant	-	NC_000019.10:g.42350372C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala909Thr	rs760736368	missense variant	-	NC_000019.10:g.42350373G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro914Ser	rs1218160789	missense variant	-	NC_000019.10:g.42351219C>T	TOPMed
MEGF8	Q7Z7M0	p.Phe915Leu	rs1273310964	missense variant	-	NC_000019.10:g.42351222T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu917Lys	rs1344496906	missense variant	-	NC_000019.10:g.42351228G>A	gnomAD
MEGF8	Q7Z7M0	p.Glu917Gly	rs771820597	missense variant	-	NC_000019.10:g.42351229A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp918Cys	rs866183199	missense variant	-	NC_000019.10:g.42351233G>T	gnomAD
MEGF8	Q7Z7M0	p.Trp918Ter	rs866183199	stop gained	-	NC_000019.10:g.42351233G>A	gnomAD
MEGF8	Q7Z7M0	p.His919Tyr	rs1205032424	missense variant	-	NC_000019.10:g.42351234C>T	gnomAD
MEGF8	Q7Z7M0	p.Gln920Glu	rs1251984988	missense variant	-	NC_000019.10:g.42351237C>G	gnomAD
MEGF8	Q7Z7M0	p.Thr922Pro	rs775190705	missense variant	-	NC_000019.10:g.42351243A>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser923Arg	rs866701843	missense variant	-	NC_000019.10:g.42351248C>A	gnomAD
MEGF8	Q7Z7M0	p.Arg924Cys	rs760250242	missense variant	-	NC_000019.10:g.42351249C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg924His	rs368247409	missense variant	-	NC_000019.10:g.42351250G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly926Arg	rs1388058258	missense variant	-	NC_000019.10:g.42351255G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly926Ala	rs1429104342	missense variant	-	NC_000019.10:g.42351256G>C	gnomAD
MEGF8	Q7Z7M0	p.Asp927Gly	rs1324351564	missense variant	-	NC_000019.10:g.42351259A>G	TOPMed
MEGF8	Q7Z7M0	p.Asp927Glu	rs761765707	missense variant	-	NC_000019.10:g.42351260C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala928Thr	rs372083317	missense variant	-	NC_000019.10:g.42351261G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala928Val	rs200104182	missense variant	-	NC_000019.10:g.42351262C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala929Ser	rs1437426754	missense variant	-	NC_000019.10:g.42351264G>T	gnomAD
MEGF8	Q7Z7M0	p.Cys930Arg	rs1277010438	missense variant	-	NC_000019.10:g.42351267T>C	gnomAD
MEGF8	Q7Z7M0	p.Arg932Gln	rs1275986175	missense variant	-	NC_000019.10:g.42351274G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg932Trp	rs1024656947	missense variant	-	NC_000019.10:g.42351273C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg933Gln	rs1207577441	missense variant	-	NC_000019.10:g.42351277G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg933Trp	rs766562569	missense variant	-	NC_000019.10:g.42351276C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly934Ser	rs1288503022	missense variant	-	NC_000019.10:g.42351279G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg935Gln	rs755045738	missense variant	-	NC_000019.10:g.42351283G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg935Trp	rs529287618	missense variant	-	NC_000019.10:g.42351282C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg937Gln	rs980600086	missense variant	-	NC_000019.10:g.42351289G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg937Trp	rs781666509	missense variant	-	NC_000019.10:g.42351288C>T	ExAC,TOPMed
MEGF8	Q7Z7M0	p.Gly938Val	rs756533048	missense variant	-	NC_000019.10:g.42351292G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly938Asp	rs756533048	missense variant	-	NC_000019.10:g.42351292G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly938Cys	rs748545141	missense variant	-	NC_000019.10:g.42351291G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly938Ser	rs748545141	missense variant	-	NC_000019.10:g.42351291G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala939Thr	rs1161584733	missense variant	-	NC_000019.10:g.42351294G>A	gnomAD
MEGF8	Q7Z7M0	p.Lys941Arg	rs1406237962	missense variant	-	NC_000019.10:g.42351301A>G	gnomAD
MEGF8	Q7Z7M0	p.Ser942Asn	rs1328149458	missense variant	-	NC_000019.10:g.42351304G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro943Ser	rs1386650004	missense variant	-	NC_000019.10:g.42351306C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro943Thr	rs1386650004	missense variant	-	NC_000019.10:g.42351306C>A	gnomAD
MEGF8	Q7Z7M0	p.Glu945Val	rs1273431721	missense variant	-	NC_000019.10:g.42351313A>T	gnomAD
MEGF8	Q7Z7M0	p.Glu945Asp	rs1434872043	missense variant	-	NC_000019.10:g.42351314G>T	gnomAD
MEGF8	Q7Z7M0	p.Cys946Tyr	rs1298736847	missense variant	-	NC_000019.10:g.42351316G>A	gnomAD
MEGF8	Q7Z7M0	p.Pro947Ser	rs1368035951	missense variant	-	NC_000019.10:g.42351318C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro947Thr	rs1368035951	missense variant	-	NC_000019.10:g.42351318C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro947Ala	rs1368035951	missense variant	-	NC_000019.10:g.42351318C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro948Ser	rs1283163475	missense variant	-	NC_000019.10:g.42351321C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro948Arg	rs771693018	missense variant	-	NC_000019.10:g.42351322C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro948Leu	rs771693018	missense variant	-	NC_000019.10:g.42351322C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu949Phe	rs1265855018	missense variant	-	NC_000019.10:g.42351324C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln952Ter	rs1464129245	stop gained	-	NC_000019.10:g.42351333C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg953Ter	rs757631754	stop gained	-	NC_000019.10:g.42351430C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg953Gln	rs972397636	missense variant	-	NC_000019.10:g.42351431G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp958Asn	rs1202934298	missense variant	-	NC_000019.10:g.42351445G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp958Glu	rs1482777933	missense variant	-	NC_000019.10:g.42351447C>G	gnomAD
MEGF8	Q7Z7M0	p.Asp958Gly	rs1272645695	missense variant	-	NC_000019.10:g.42351446A>G	gnomAD
MEGF8	Q7Z7M0	p.Ala961Val	rs1198657231	missense variant	-	NC_000019.10:g.42351455C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala961Thr	rs1431607160	missense variant	-	NC_000019.10:g.42351454G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser963Phe	rs1378541832	missense variant	-	NC_000019.10:g.42351461C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser964Gly	rs149088443	missense variant	-	NC_000019.10:g.42351463A>G	ESP,gnomAD
MEGF8	Q7Z7M0	p.Ser964Asn	rs1167245424	missense variant	-	NC_000019.10:g.42351464G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys966Trp	rs773071296	missense variant	-	NC_000019.10:g.42351471C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys966Ter	rs773071296	stop gained	-	NC_000019.10:g.42351471C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala967Thr	rs143160271	missense variant	-	NC_000019.10:g.42351472G>A	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys969Tyr	rs1311031160	missense variant	-	NC_000019.10:g.42351479G>A	TOPMed
MEGF8	Q7Z7M0	p.Cys969Gly	rs1354670294	missense variant	-	NC_000019.10:g.42351478T>G	TOPMed
MEGF8	Q7Z7M0	p.Gln970His	rs955021153	missense variant	-	NC_000019.10:g.42351483G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln970Ter	rs773198385	stop gained	-	NC_000019.10:g.42351481C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser971Tyr	rs1225831456	missense variant	-	NC_000019.10:g.42351485C>A	gnomAD
MEGF8	Q7Z7M0	p.Leu977Pro	rs774578166	missense variant	-	NC_000019.10:g.42351503T>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala983Val	rs1268562853	missense variant	-	NC_000019.10:g.42351521C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg984Trp	rs1455864571	missense variant	-	NC_000019.10:g.42351523C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg984Gln	rs759793369	missense variant	-	NC_000019.10:g.42351524G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Tyr985His	rs1051196312	missense variant	-	NC_000019.10:g.42351526T>C	gnomAD
MEGF8	Q7Z7M0	p.Pro986Arg	rs1171956527	missense variant	-	NC_000019.10:g.42351530C>G	gnomAD
MEGF8	Q7Z7M0	p.His987Asp	rs752775785	missense variant	-	NC_000019.10:g.42351532C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly988Arg	rs764510742	missense variant	-	NC_000019.10:g.42351535G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly989Asp	rs757715325	missense variant	-	NC_000019.10:g.42351539G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly989Ser	rs539307956	missense variant	-	NC_000019.10:g.42351538G>A	1000Genomes,gnomAD
MEGF8	Q7Z7M0	p.Gly989Ala	rs757715325	missense variant	-	NC_000019.10:g.42351539G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys990Gly	rs1216223600	missense variant	-	NC_000019.10:g.42351541T>G	gnomAD
MEGF8	Q7Z7M0	p.Arg991Ter	rs779375840	stop gained	-	NC_000019.10:g.42351544C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg991Gln	rs1319984417	missense variant	-	NC_000019.10:g.42351545G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly992Ser	rs1244078464	missense variant	-	NC_000019.10:g.42351547G>A	gnomAD
MEGF8	Q7Z7M0	p.Trp993Arg	rs1274040917	missense variant	-	NC_000019.10:g.42351550T>A	gnomAD
MEGF8	Q7Z7M0	p.Asp994Asn	rs200485103	missense variant	-	NC_000019.10:g.42351553G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp995Asn	rs780887227	missense variant	-	NC_000019.10:g.42351556G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser996Thr	rs1223817524	missense variant	-	NC_000019.10:g.42351560G>C	TOPMed
MEGF8	Q7Z7M0	p.Ser996Ile	rs1223817524	missense variant	-	NC_000019.10:g.42351560G>T	TOPMed
MEGF8	Q7Z7M0	p.Val997Ala	rs1173646075	missense variant	-	NC_000019.10:g.42351650T>C	gnomAD
MEGF8	Q7Z7M0	p.His998Tyr	rs1358525262	missense variant	-	NC_000019.10:g.42351652C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser999Leu	rs780715056	missense variant	-	NC_000019.10:g.42351656C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1001Leu	rs1287970572	missense variant	-	NC_000019.10:g.42351662C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1001Ser	rs1408017534	missense variant	-	NC_000019.10:g.42351661C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1001Thr	rs1408017534	missense variant	-	NC_000019.10:g.42351661C>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1002Gln	rs372885044	missense variant	-	NC_000019.10:g.42351665G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1002Trp	rs1374279391	missense variant	-	NC_000019.10:g.42351664C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1002Pro	rs372885044	missense variant	-	NC_000019.10:g.42351665G>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys1003Arg	COSM1394132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42351667T>C	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg1004Trp	RCV000658840	missense variant	-	NC_000019.10:g.42351670C>T	ClinVar
MEGF8	Q7Z7M0	p.Arg1004Trp	RCV000691254	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42351670C>T	ClinVar
MEGF8	Q7Z7M0	p.Arg1004Pro	rs770911706	missense variant	-	NC_000019.10:g.42351671G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1004Trp	rs141383715	missense variant	-	NC_000019.10:g.42351670C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1004Gln	rs770911706	missense variant	-	NC_000019.10:g.42351671G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys1006Tyr	rs778816177	missense variant	-	NC_000019.10:g.42351677G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp1007Gly	rs1233127460	missense variant	-	NC_000019.10:g.42351680A>G	gnomAD
MEGF8	Q7Z7M0	p.Asp1007Asn	rs771840324	missense variant	-	NC_000019.10:g.42351679G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1008Asp	rs1470930110	missense variant	-	NC_000019.10:g.42351683G>A	gnomAD
MEGF8	Q7Z7M0	p.Phe1009Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42351686T>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Phe1009Leu	rs760908525	missense variant	-	NC_000019.10:g.42351687C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1010Pro	rs1435332644	missense variant	-	NC_000019.10:g.42351689T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1011Pro	rs768725087	missense variant	-	NC_000019.10:g.42351691A>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys1012Phe	rs1368558165	missense variant	-	NC_000019.10:g.42351695G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys1012Tyr	rs1368558165	missense variant	-	NC_000019.10:g.42351695G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1013Asp	rs761975438	missense variant	-	NC_000019.10:g.42351697C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1014Gln	rs1392629678	missense variant	-	NC_000019.10:g.42351700G>C	TOPMed
MEGF8	Q7Z7M0	p.Glu1014Ala	rs765914934	missense variant	-	NC_000019.10:g.42351701A>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1016Val	rs1355388057	missense variant	-	NC_000019.10:g.42351706C>G	gnomAD
MEGF8	Q7Z7M0	p.Gln1017Ter	rs1273508107	stop gained	-	NC_000019.10:g.42351709C>T	gnomAD
MEGF8	Q7Z7M0	p.Glu1020Lys	rs913793350	missense variant	-	NC_000019.10:g.42351718G>A	gnomAD
MEGF8	Q7Z7M0	p.Glu1020Gln	rs913793350	missense variant	-	NC_000019.10:g.42351718G>C	gnomAD
MEGF8	Q7Z7M0	p.Trp1023Cys	rs1372970036	missense variant	-	NC_000019.10:g.42351729G>C	TOPMed
MEGF8	Q7Z7M0	p.Cys1024Gly	rs763242460	missense variant	-	NC_000019.10:g.42351730T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys1024Trp	rs766718776	missense variant	-	NC_000019.10:g.42351732T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1025Asp	rs1273067513	missense variant	-	NC_000019.10:g.42351734G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp1028Gly	rs1218914256	missense variant	-	NC_000019.10:g.42351743A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn1029Ser	rs752323870	missense variant	-	NC_000019.10:g.42351746A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1031Ala	rs755839114	missense variant	-	NC_000019.10:g.42351751A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1032Val	rs753410940	missense variant	-	NC_000019.10:g.42351754C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1034Trp	rs369700472	missense variant	-	NC_000019.10:g.42351760C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1034Leu	rs778832627	missense variant	-	NC_000019.10:g.42351761G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1034Gln	rs778832627	missense variant	-	NC_000019.10:g.42351761G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1038Glu	rs1440575936	missense variant	-	NC_000019.10:g.42352219G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp1039Asn	rs1185569170	missense variant	-	NC_000019.10:g.42352221G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser1041Leu	rs753429196	missense variant	-	NC_000019.10:g.42352228C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1042Trp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42352230G>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly1042Arg	rs1465547284	missense variant	-	NC_000019.10:g.42352230G>A	TOPMed
MEGF8	Q7Z7M0	p.Pro1043Thr	rs1188577037	missense variant	-	NC_000019.10:g.42352233C>A	gnomAD
MEGF8	Q7Z7M0	p.Pro1043Leu	rs1190351849	missense variant	-	NC_000019.10:g.42352234C>T	gnomAD
MEGF8	Q7Z7M0	p.Leu1044Pro	rs1272621960	missense variant	-	NC_000019.10:g.42352237T>C	TOPMed
MEGF8	Q7Z7M0	p.Gly1045Ala	rs764684398	missense variant	-	NC_000019.10:g.42352240G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1045Cys	rs756780589	missense variant	-	NC_000019.10:g.42352239G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1045Asp	rs764684398	missense variant	-	NC_000019.10:g.42352240G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1045Ser	rs756780589	missense variant	-	NC_000019.10:g.42352239G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1046Glu	rs1186791005	missense variant	-	NC_000019.10:g.42352243G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1047Ala	rs751571654	missense variant	-	NC_000019.10:g.42352246G>C	TOPMed
MEGF8	Q7Z7M0	p.Gly1047Cys	rs1320734567	missense variant	-	NC_000019.10:g.42352245G>T	TOPMed
MEGF8	Q7Z7M0	p.Gly1047Asp	rs751571654	missense variant	-	NC_000019.10:g.42352246G>A	TOPMed
MEGF8	Q7Z7M0	p.Cys1049Arg	rs1388992387	missense variant	-	NC_000019.10:g.42352251T>C	TOPMed
MEGF8	Q7Z7M0	p.Trp1052Arg	rs202039332	missense variant	-	NC_000019.10:g.42352260T>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1054Arg	rs1419895019	missense variant	-	NC_000019.10:g.42352266G>A	TOPMed
MEGF8	Q7Z7M0	p.Gly1054Glu	rs779846533	missense variant	-	NC_000019.10:g.42352267G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1055Lys	rs1334764258	missense variant	-	NC_000019.10:g.42352269G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1056Ala	rs746892451	missense variant	-	NC_000019.10:g.42352273G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1059Phe	rs1486044137	missense variant	-	NC_000019.10:g.42352281C>T	gnomAD
MEGF8	Q7Z7M0	p.Val1061Met	rs1249923163	missense variant	-	NC_000019.10:g.42352287G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1061Leu	rs1249923163	missense variant	-	NC_000019.10:g.42352287G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1062Thr	rs964404973	missense variant	-	NC_000019.10:g.42352290G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1062Ser	rs964404973	missense variant	-	NC_000019.10:g.42352290G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1063Phe	rs1183035992	missense variant	-	NC_000019.10:g.42352293C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1064Thr	rs770026911	missense variant	-	NC_000019.10:g.42352296C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1064Ala	rs770026911	missense variant	-	NC_000019.10:g.42352296C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1064His	rs773382680	missense variant	-	NC_000019.10:g.42352297C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1064Ser	rs770026911	missense variant	-	NC_000019.10:g.42352296C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1065ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42352298T>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg1066Pro	rs771533990	missense variant	-	NC_000019.10:g.42352303G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1066Cys	rs550956511	missense variant	-	NC_000019.10:g.42352302C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1066Leu	rs771533990	missense variant	-	NC_000019.10:g.42352303G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1066His	rs771533990	missense variant	-	NC_000019.10:g.42352303G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1066Ser	rs550956511	missense variant	-	NC_000019.10:g.42352302C>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1068Ser	rs1365393486	missense variant	-	NC_000019.10:g.42352308G>T	TOPMed
MEGF8	Q7Z7M0	p.Ala1070Thr	rs772370974	missense variant	-	NC_000019.10:g.42352314G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1071Cys	rs776294154	missense variant	-	NC_000019.10:g.42352317C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1071His	rs1329121493	missense variant	-	NC_000019.10:g.42352318G>A	gnomAD
MEGF8	Q7Z7M0	p.Cys1072Ser	rs956561294	missense variant	-	NC_000019.10:g.42352321G>C	TOPMed
MEGF8	Q7Z7M0	p.Pro1073Leu	rs1233212838	missense variant	-	NC_000019.10:g.42352324C>T	gnomAD
MEGF8	Q7Z7M0	p.Asp1074Asn	rs1394320984	missense variant	-	NC_000019.10:g.42352326G>A	TOPMed
MEGF8	Q7Z7M0	p.Val1075Met	rs1349909441	missense variant	-	NC_000019.10:g.42352329G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1076Tyr	rs1272534208	missense variant	-	NC_000019.10:g.42352332G>T	gnomAD
MEGF8	Q7Z7M0	p.Arg1079His	rs762369657	missense variant	-	NC_000019.10:g.42352342G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1079Cys	rs1252854271	missense variant	-	NC_000019.10:g.42352341C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg1079Leu	rs762369657	missense variant	-	NC_000019.10:g.42352342G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1084Trp	rs908722189	missense variant	-	NC_000019.10:g.42352356C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1084Gln	rs865798770	missense variant	-	NC_000019.10:g.42352357G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1084Leu	rs865798770	missense variant	-	NC_000019.10:g.42352357G>T	gnomAD
MEGF8	Q7Z7M0	p.Cys1085Tyr	COSM3797148	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42352360G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro1087Leu	rs781096678	missense variant	-	NC_000019.10:g.42352366C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1087Gln	rs781096678	missense variant	-	NC_000019.10:g.42352366C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1088Gln	rs777852895	missense variant	-	NC_000019.10:g.42352369G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1088Trp	rs756454771	missense variant	-	NC_000019.10:g.42352368C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1089Val	rs749389938	missense variant	-	NC_000019.10:g.42352372C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1090Asn	rs558173499	missense variant	-	NC_000019.10:g.42352375C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1094Met	rs772535224	missense variant	-	NC_000019.10:g.42352387C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1095His	rs775878262	missense variant	-	NC_000019.10:g.42352390C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1096Ile	rs1470268755	missense variant	-	NC_000019.10:g.42352392C>A	gnomAD
MEGF8	Q7Z7M0	p.Ser1097Asn	rs868010514	missense variant	-	NC_000019.10:g.42352396G>A	gnomAD
MEGF8	Q7Z7M0	p.Glu1099Lys	rs772677118	missense variant	-	NC_000019.10:g.42352401G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1101Leu	COSM997369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42352408A>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gln1103His	rs942040487	missense variant	-	NC_000019.10:g.42352415G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1104Pro	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42352417G>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg1104Trp	rs370522595	missense variant	-	NC_000019.10:g.42352416C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1104Gln	rs1460568797	missense variant	-	NC_000019.10:g.42352417G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1105Ser	rs1165465895	missense variant	-	NC_000019.10:g.42352419G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1108Ala	rs1206880480	missense variant	-	NC_000019.10:g.42352429G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1110Val	rs1432562875	missense variant	-	NC_000019.10:g.42352435G>T	gnomAD
MEGF8	Q7Z7M0	p.Gly1110Asp	rs1432562875	missense variant	-	NC_000019.10:g.42352435G>A	gnomAD
MEGF8	Q7Z7M0	p.His1113Tyr	rs370419567	missense variant	-	NC_000019.10:g.42352443C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1113Arg	rs759589147	missense variant	-	NC_000019.10:g.42352444A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn1115Ser	rs767539999	missense variant	-	NC_000019.10:g.42352450A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn1115Ile	rs767539999	missense variant	-	NC_000019.10:g.42352450A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn1115Asp	COSM4078757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42352449A>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg1116Cys	rs781355884	missense variant	-	NC_000019.10:g.42352452C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1116Ser	rs781355884	missense variant	-	NC_000019.10:g.42352452C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1116Leu	rs551687173	missense variant	-	NC_000019.10:g.42352453G>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1116Pro	rs551687173	missense variant	-	NC_000019.10:g.42352453G>C	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1116His	rs551687173	missense variant	-	NC_000019.10:g.42352453G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1117Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42352456C>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Thr1117Met	rs753957347	missense variant	-	NC_000019.10:g.42352456C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1117Lys	rs753957347	missense variant	-	NC_000019.10:g.42352456C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1120Lys	rs1377543834	missense variant	-	NC_000019.10:g.42352935G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1121Tyr	rs1440284990	missense variant	-	NC_000019.10:g.42352938G>T	gnomAD
MEGF8	Q7Z7M0	p.Gly1123Val	rs750565790	missense variant	-	NC_000019.10:g.42352945G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.His1124Gln	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42352949T>G	NCI-TCGA
MEGF8	Q7Z7M0	p.His1124Arg	rs1374530093	missense variant	-	NC_000019.10:g.42352948A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1125Ser	rs1225767531	missense variant	-	NC_000019.10:g.42352950G>A	gnomAD
MEGF8	Q7Z7M0	p.Val1126Gly	rs758410324	missense variant	-	NC_000019.10:g.42352954T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1128Arg	rs1052025305	missense variant	-	NC_000019.10:g.42352961T>G	TOPMed
MEGF8	Q7Z7M0	p.Ser1128Arg	COSM997375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42352961T>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ser1128Gly	rs747469147	missense variant	-	NC_000019.10:g.42352959A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1130Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42352966C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro1130Thr	rs781451872	missense variant	-	NC_000019.10:g.42352965C>A	ExAC
MEGF8	Q7Z7M0	p.Pro1131ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42352964C>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro1131Leu	RCV000396927	missense variant	-	NC_000019.10:g.42352969C>T	ClinVar
MEGF8	Q7Z7M0	p.Pro1131Leu	rs748525586	missense variant	-	NC_000019.10:g.42352969C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1131Arg	rs748525586	missense variant	-	NC_000019.10:g.42352969C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1132Gly	rs1233037830	missense variant	-	NC_000019.10:g.42352972A>G	gnomAD
MEGF8	Q7Z7M0	p.Val1136Met	rs771657070	missense variant	-	NC_000019.10:g.42352983G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1138Asn	rs374300363	missense variant	-	NC_000019.10:g.42352989G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1138His	rs374300363	missense variant	-	NC_000019.10:g.42352989G>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1139Ile	rs1174414368	missense variant	-	NC_000019.10:g.42352992C>A	gnomAD
MEGF8	Q7Z7M0	p.Trp1141Ter	rs200096403	stop gained	-	NC_000019.10:g.42352999G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp1141Arg	rs1408225648	missense variant	-	NC_000019.10:g.42352998T>C	gnomAD
MEGF8	Q7Z7M0	p.Ser1143Leu	rs368693886	missense variant	-	NC_000019.10:g.42353005C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1143Pro	rs1289426983	missense variant	-	NC_000019.10:g.42353004T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1144Ala	rs573143647	missense variant	-	NC_000019.10:g.42353008A>C	1000Genomes
MEGF8	Q7Z7M0	p.Pro1146Ser	rs1370955813	missense variant	-	NC_000019.10:g.42353013C>T	gnomAD
MEGF8	Q7Z7M0	p.Thr1149Ile	rs1213406465	missense variant	-	NC_000019.10:g.42353023C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1150Arg	rs1015534225	missense variant	-	NC_000019.10:g.42353026C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1150His	rs1015534225	missense variant	-	NC_000019.10:g.42353026C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1151Thr	rs373631162	missense variant	-	NC_000019.10:g.42353028G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1151Ser	rs373631162	missense variant	-	NC_000019.10:g.42353028G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1152Leu	rs367649187	missense variant	-	NC_000019.10:g.42353032C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1153Val	rs1178701470	missense variant	-	NC_000019.10:g.42353035G>T	gnomAD
MEGF8	Q7Z7M0	p.Gly1153Ser	rs989766997	missense variant	-	NC_000019.10:g.42353034G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1154Leu	rs562936594	missense variant	-	NC_000019.10:g.42353038C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1154Ser	rs748528692	missense variant	-	NC_000019.10:g.42353037C>T	ExAC
MEGF8	Q7Z7M0	p.Ala1156Thr	rs1167359530	missense variant	-	NC_000019.10:g.42353043G>A	gnomAD
MEGF8	Q7Z7M0	p.Pro1157Ser	rs978921703	missense variant	-	NC_000019.10:g.42353046C>T	TOPMed
MEGF8	Q7Z7M0	p.Arg1158Ser	rs977777127	missense variant	-	NC_000019.10:g.42353049C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1158His	rs745476792	missense variant	-	NC_000019.10:g.42353050G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1158Cys	rs977777127	missense variant	-	NC_000019.10:g.42353049C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1161Gln	rs533343939	missense variant	-	NC_000019.10:g.42353059G>A	1000Genomes
MEGF8	Q7Z7M0	p.Arg1161Trp	rs771818419	missense variant	-	NC_000019.10:g.42353058C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1162Asn	rs1429438883	missense variant	-	NC_000019.10:g.42353061G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1164Val	rs545368166	missense variant	-	NC_000019.10:g.42353068G>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1166Asn	rs1053294480	missense variant	-	NC_000019.10:g.42353074G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1168Pro	rs746512440	missense variant	-	NC_000019.10:g.42353080A>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1169Asn	rs1272083592	missense variant	-	NC_000019.10:g.42353083G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1172His	rs1405403853	missense variant	-	NC_000019.10:g.42353092G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1172Gly	rs376582167	missense variant	-	NC_000019.10:g.42353091C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1172Cys	rs376582167	missense variant	-	NC_000019.10:g.42353091C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1174Trp	rs892173452	missense variant	-	NC_000019.10:g.42353097C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1174Gln	rs1446337126	missense variant	-	NC_000019.10:g.42353098G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1175Ser	rs1322352097	missense variant	-	NC_000019.10:g.42353100G>A	gnomAD
MEGF8	Q7Z7M0	p.Cys1179Arg	rs1458384742	missense variant	-	NC_000019.10:g.42353112T>C	TOPMed
MEGF8	Q7Z7M0	p.Asp1180Asn	rs1242769574	missense variant	-	NC_000019.10:g.42353115G>A	gnomAD
MEGF8	Q7Z7M0	p.Glu1181Lys	rs185009718	missense variant	-	NC_000019.10:g.42353118G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln1183His	rs1417337281	missense variant	-	NC_000019.10:g.42353126G>C	gnomAD
MEGF8	Q7Z7M0	p.Asp1184His	rs1462322609	missense variant	-	NC_000019.10:g.42353127G>C	gnomAD
MEGF8	Q7Z7M0	p.Trp1187Ter	rs753199102	stop gained	-	NC_000019.10:g.42353474G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Trp1187Ser	rs753199102	missense variant	-	NC_000019.10:g.42353474G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1188Trp	rs756577669	missense variant	-	NC_000019.10:g.42353476G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1189Ter	rs1326671024	stop gained	-	NC_000019.10:g.42353479G>T	gnomAD
MEGF8	Q7Z7M0	p.Glu1189SerPheSerTerUnkUnkUnk	COSM4701669	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42353474G>-	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.His1190Asp	rs778320987	missense variant	-	NC_000019.10:g.42353482C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1192Lys	rs1311411371	missense variant	-	NC_000019.10:g.42353488G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1192Ter	rs1311411371	stop gained	-	NC_000019.10:g.42353488G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1192Gln	rs1311411371	missense variant	-	NC_000019.10:g.42353488G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1193Gly	rs758179285	missense variant	-	NC_000019.10:g.42353491C>G	ExAC,TOPMed
MEGF8	Q7Z7M0	p.Arg1193Gln	rs1345582285	missense variant	-	NC_000019.10:g.42353492G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1195Trp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42353497C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg1195Gln	rs779749950	missense variant	-	NC_000019.10:g.42353498G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1196Leu	rs904943760	missense variant	-	NC_000019.10:g.42353501C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1197Cys	rs139332716	missense variant	-	NC_000019.10:g.42353503G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1197Ser	rs139332716	missense variant	-	NC_000019.10:g.42353503G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1198Arg	rs534194675	missense variant	-	NC_000019.10:g.42353506A>C	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Phe1199Cys	rs748082298	missense variant	-	NC_000019.10:g.42353510T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1200Asp	rs369401044	missense variant	-	NC_000019.10:g.42353513G>A	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1200Ser	rs374935528	missense variant	-	NC_000019.10:g.42353512G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1200Arg	rs374935528	missense variant	-	NC_000019.10:g.42353512G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1202Gly	rs1207292619	missense variant	-	NC_000019.10:g.42353519C>G	gnomAD
MEGF8	Q7Z7M0	p.Ala1202Thr	rs1467075082	missense variant	-	NC_000019.10:g.42353518G>A	gnomAD
MEGF8	Q7Z7M0	p.Thr1203Ile	rs1165792331	missense variant	-	NC_000019.10:g.42353522C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly1204Ser	rs1475100084	missense variant	-	NC_000019.10:g.42353524G>A	TOPMed
MEGF8	Q7Z7M0	p.Ser1205Cys	rs1391781625	missense variant	-	NC_000019.10:g.42353528C>G	gnomAD
MEGF8	Q7Z7M0	p.Gly1207Asp	rs1333090616	missense variant	-	NC_000019.10:g.42353534G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1209Gln	rs556378666	missense variant	-	NC_000019.10:g.42353540G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1209Trp	rs372257661	missense variant	-	NC_000019.10:g.42353539C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1210His	rs761313195	missense variant	-	NC_000019.10:g.42353543C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln1212Arg	rs372294386	missense variant	-	NC_000019.10:g.42353549A>G	ESP
MEGF8	Q7Z7M0	p.Asn1214Lys	rs754316452	missense variant	-	NC_000019.10:g.42353556C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn1214Ser	rs764681351	missense variant	-	NC_000019.10:g.42353555A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1215Trp	rs149613080	missense variant	-	NC_000019.10:g.42353557G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1215Arg	rs149613080	missense variant	-	NC_000019.10:g.42353557G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1216Asn	rs1467568260	missense variant	-	NC_000019.10:g.42353560C>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1217Arg	rs751177819	missense variant	-	NC_000019.10:g.42353563G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1219Gln	rs754481112	missense variant	-	NC_000019.10:g.42353570C>A	ExAC,TOPMed
MEGF8	Q7Z7M0	p.Arg1220His	rs1190335874	missense variant	-	NC_000019.10:g.42353573G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1220Cys	rs762398666	missense variant	-	NC_000019.10:g.42353572C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1221Cys	rs747638869	missense variant	-	NC_000019.10:g.42353575C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1221His	rs375618779	missense variant	-	NC_000019.10:g.42353576G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1223Tyr	rs749087436	missense variant	-	NC_000019.10:g.42353581C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp1225Asn	rs965163145	missense variant	-	NC_000019.10:g.42353587G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn1226Ser	rs1369586569	missense variant	-	NC_000019.10:g.42353591A>G	gnomAD
MEGF8	Q7Z7M0	p.Ser1228Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42353596A>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Ser1228Asn	rs374413723	missense variant	-	NC_000019.10:g.42353597G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1228Arg	rs1160525072	missense variant	-	NC_000019.10:g.42353598T>G	TOPMed
MEGF8	Q7Z7M0	p.Ser1228Ile	rs374413723	missense variant	-	NC_000019.10:g.42353597G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1229Glu	rs1293486177	missense variant	-	NC_000019.10:g.42353600G>A	gnomAD
MEGF8	Q7Z7M0	p.Leu1230Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42353602C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Gln1234Ter	rs1219460439	stop gained	-	NC_000019.10:g.42353614C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln1234Leu	rs1260171890	missense variant	-	NC_000019.10:g.42353615A>T	gnomAD
MEGF8	Q7Z7M0	p.Gln1234Glu	rs1219460439	missense variant	-	NC_000019.10:g.42353614C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1236Tyr	rs1213411204	missense variant	-	NC_000019.10:g.42353620C>T	gnomAD
MEGF8	Q7Z7M0	p.Glu1238Lys	rs377750684	missense variant	-	NC_000019.10:g.42353626G>A	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1240Val	rs1428533498	missense variant	-	NC_000019.10:g.42353633C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala1240Ser	rs1260427441	missense variant	-	NC_000019.10:g.42353632G>T	gnomAD
MEGF8	Q7Z7M0	p.His1241Tyr	rs1195405728	missense variant	-	NC_000019.10:g.42353635C>T	gnomAD
MEGF8	Q7Z7M0	p.Cys1242Arg	rs1415158424	missense variant	-	NC_000019.10:g.42353638T>C	gnomAD
MEGF8	Q7Z7M0	p.Cys1245Tyr	rs1451543200	missense variant	-	NC_000019.10:g.42353648G>A	gnomAD
MEGF8	Q7Z7M0	p.Pro1247Thr	rs764699934	missense variant	-	NC_000019.10:g.42353653C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1248Ser	rs1000326602	missense variant	-	NC_000019.10:g.42353656G>A	TOPMed
MEGF8	Q7Z7M0	p.Gly1251Glu	rs777218164	missense variant	-	NC_000019.10:g.42353666G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp1252Tyr	rs578098855	missense variant	-	NC_000019.10:g.42353668G>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp1252Asn	rs578098855	missense variant	-	NC_000019.10:g.42353668G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1253Thr	rs1209269226	missense variant	-	NC_000019.10:g.42353671C>A	TOPMed
MEGF8	Q7Z7M0	p.Arg1254Trp	rs200195292	missense variant	-	NC_000019.10:g.42353674C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1254Gln	rs1233110690	missense variant	-	NC_000019.10:g.42353675G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala1255Val	COSM3534755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42353777C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly1256Asp	rs753322711	missense variant	-	NC_000019.10:g.42353780G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1256Ser	rs763633644	missense variant	-	NC_000019.10:g.42353779G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1261Trp	rs1008783042	missense variant	-	NC_000019.10:g.42353794C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1261Gln	rs778710515	missense variant	-	NC_000019.10:g.42353795G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1266His	rs1346522682	missense variant	-	NC_000019.10:g.42353810G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1266Cys	rs750730059	missense variant	-	NC_000019.10:g.42353809C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala1267Thr	rs758067731	missense variant	-	NC_000019.10:g.42353812G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1270Asn	rs1258459037	missense variant	-	NC_000019.10:g.42353822C>A	gnomAD
MEGF8	Q7Z7M0	p.Thr1270Ser	rs747196729	missense variant	-	NC_000019.10:g.42353821A>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn1271Ser	rs781474959	missense variant	-	NC_000019.10:g.42353825A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val1272Leu	rs770399527	missense variant	-	NC_000019.10:g.42353827G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val1272Met	rs770399527	missense variant	-	NC_000019.10:g.42353827G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val1275Met	rs1422511596	missense variant	-	NC_000019.10:g.42353836G>A	TOPMed
MEGF8	Q7Z7M0	p.Gly1278Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42353846G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg1280Cys	rs771238352	missense variant	-	NC_000019.10:g.42353851C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1280His	rs368787343	missense variant	-	NC_000019.10:g.42353852G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1281Gln	rs374189635	missense variant	-	NC_000019.10:g.42353855G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1281Trp	rs371283114	missense variant	-	NC_000019.10:g.42353854C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1282Ala	rs761157640	missense variant	-	NC_000019.10:g.42353858T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1283Arg	rs750275998	missense variant	-	NC_000019.10:g.42353860G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1285CysPheSerTerUnkUnk	COSM6028206	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42353860G>-	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Leu1285Gln	rs1213610975	missense variant	-	NC_000019.10:g.42353867T>A	gnomAD
MEGF8	Q7Z7M0	p.Pro1287Ser	rs758241653	missense variant	-	NC_000019.10:g.42353872C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1288Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42353875C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro1288Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42353876C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly1289Val	rs780037599	missense variant	-	NC_000019.10:g.42353879G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1291Arg	rs755312971	missense variant	-	NC_000019.10:g.42353884G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1291Glu	rs866861157	missense variant	-	NC_000019.10:g.42353885G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1291Trp	rs755312971	missense variant	-	NC_000019.10:g.42353884G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1292Val	rs1347202322	missense variant	-	NC_000019.10:g.42353888C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala1295Thr	rs1474436698	missense variant	-	NC_000019.10:g.42353896G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1296Arg	rs546120448	missense variant	-	NC_000019.10:g.42353899G>C	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1296Trp	rs546120448	missense variant	-	NC_000019.10:g.42353899G>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1296Glu	rs367923884	missense variant	-	NC_000019.10:g.42353900G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1296Arg	rs546120448	missense variant	-	NC_000019.10:g.42353899G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1298Val	rs771404217	missense variant	-	NC_000019.10:g.42353906G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1298Asp	rs771404217	missense variant	-	NC_000019.10:g.42353906G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1299Met	rs920359314	missense variant	-	NC_000019.10:g.42353908C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1300Phe	rs1406454001	missense variant	-	NC_000019.10:g.42353912C>T	gnomAD
MEGF8	Q7Z7M0	p.Trp1304Gly	rs1429332615	missense variant	-	NC_000019.10:g.42353923T>G	gnomAD
MEGF8	Q7Z7M0	p.Trp1304Cys	COSM1394136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42353925G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ser1307Leu	rs768302132	missense variant	-	NC_000019.10:g.42353933C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1308Thr	rs776085762	missense variant	-	NC_000019.10:g.42353935G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1311Lys	rs761406257	missense variant	-	NC_000019.10:g.42353944G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1311Ter	rs761406257	stop gained	-	NC_000019.10:g.42353944G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln1313Ter	rs1226175857	stop gained	-	NC_000019.10:g.42353950C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1314Leu	rs764610687	missense variant	-	NC_000019.10:g.42353954C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys1315Tyr	rs1445386229	missense variant	-	NC_000019.10:g.42353957G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala1316Val	rs1215918793	missense variant	-	NC_000019.10:g.42353960C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1317Ser	rs749921436	missense variant	-	NC_000019.10:g.42353962C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1317Ala	rs749921436	missense variant	-	NC_000019.10:g.42353962C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1318Trp	rs766409677	missense variant	-	NC_000019.10:g.42353965G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1318Arg	rs766409677	missense variant	-	NC_000019.10:g.42353965G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1319Ala	rs531381174	missense variant	-	NC_000019.10:g.42353968A>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1320Phe	rs1165513049	missense variant	-	NC_000019.10:g.42353971C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1320Ile	rs1165513049	missense variant	-	NC_000019.10:g.42353971C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1322Ser	rs767867271	missense variant	-	NC_000019.10:g.42353977C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1323Arg	rs189681080	missense variant	-	NC_000019.10:g.42353981C>G	1000Genomes,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1323Ala	rs866196214	missense variant	-	NC_000019.10:g.42353980C>G	gnomAD
MEGF8	Q7Z7M0	p.Pro1323Gln	rs189681080	missense variant	-	NC_000019.10:g.42353981C>A	1000Genomes,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1323Thr	rs866196214	missense variant	-	NC_000019.10:g.42353980C>A	gnomAD
MEGF8	Q7Z7M0	p.Thr1325Ile	rs571020930	missense variant	-	NC_000019.10:g.42353987C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1326Phe	rs1395077400	missense variant	-	NC_000019.10:g.42353989C>T	TOPMed
MEGF8	Q7Z7M0	p.Phe1328Leu	rs1349836953	missense variant	-	NC_000019.10:g.42353995T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Phe1328Leu	rs749373272	missense variant	-	NC_000019.10:g.42353997C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1329Phe	rs753417146	missense variant	-	NC_000019.10:g.42353999C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1329Tyr	rs753417146	missense variant	-	NC_000019.10:g.42353999C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1330Ser	rs1209012733	missense variant	-	NC_000019.10:g.42354001C>T	gnomAD
MEGF8	Q7Z7M0	p.Asp1331ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42353999C>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Asp1331Asn	rs1443383922	missense variant	-	NC_000019.10:g.42354004G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1332Ile	rs1190024956	missense variant	-	NC_000019.10:g.42354008G>T	gnomAD
MEGF8	Q7Z7M0	p.Ser1333Arg	rs1231713576	missense variant	-	NC_000019.10:g.42354010A>C	gnomAD
MEGF8	Q7Z7M0	p.Thr1334ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42354013A>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Thr1334Ile	rs1158787375	missense variant	-	NC_000019.10:g.42354014C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1335Ser	rs1381641420	missense variant	-	NC_000019.10:g.42354016C>T	gnomAD
MEGF8	Q7Z7M0	p.Thr1337Met	rs1387335660	missense variant	-	NC_000019.10:g.42354023C>T	TOPMed
MEGF8	Q7Z7M0	p.Thr1337Ala	COSM439659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42354022A>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Leu1338Val	rs1378735472	missense variant	-	NC_000019.10:g.42354588C>G	gnomAD
MEGF8	Q7Z7M0	p.Ser1339Cys	rs1331958384	missense variant	-	NC_000019.10:g.42354591A>T	gnomAD
MEGF8	Q7Z7M0	p.Tyr1340Cys	rs1161252837	missense variant	-	NC_000019.10:g.42354595A>G	TOPMed
MEGF8	Q7Z7M0	p.Val1341Leu	rs549875912	missense variant	-	NC_000019.10:g.42354597G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1341Ile	rs549875912	missense variant	-	NC_000019.10:g.42354597G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1343Val	rs746330794	missense variant	-	NC_000019.10:g.42354604C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1343Ser	rs1317727310	missense variant	-	NC_000019.10:g.42354603G>T	gnomAD
MEGF8	Q7Z7M0	p.Phe1344Val	rs1467499790	missense variant	-	NC_000019.10:g.42354606T>G	gnomAD
MEGF8	Q7Z7M0	p.Arg1349Cys	rs368468093	missense variant	-	NC_000019.10:g.42354621C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1349His	rs772858157	missense variant	-	NC_000019.10:g.42354622G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Phe1350Leu	rs201209045	missense variant	-	NC_000019.10:g.42354624T>C	1000Genomes,gnomAD
MEGF8	Q7Z7M0	p.Thr1353Ala	rs1319965734	missense variant	-	NC_000019.10:g.42354633A>G	gnomAD
MEGF8	Q7Z7M0	p.Gly1354Asp	rs1293983151	missense variant	-	NC_000019.10:g.42354637G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1354Ser	rs774462945	missense variant	-	NC_000019.10:g.42354636G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val1355Ile	rs3745234	missense variant	-	NC_000019.10:g.42354639G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1356Ile	rs1296610457	missense variant	-	NC_000019.10:g.42354642G>A	gnomAD
MEGF8	Q7Z7M0	p.Gln1357Arg	rs1360457015	missense variant	-	NC_000019.10:g.42354646A>G	TOPMed
MEGF8	Q7Z7M0	p.Ser1358Leu	rs760451604	missense variant	-	NC_000019.10:g.42354649C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1359Glu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42354653C>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg1360His	rs761908769	missense variant	-	NC_000019.10:g.42354655G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1360Cys	rs754006123	missense variant	-	NC_000019.10:g.42354654C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1361Arg	rs1266478937	missense variant	-	NC_000019.10:g.42354659C>A	gnomAD
MEGF8	Q7Z7M0	p.Ile1363Thr	rs765337936	missense variant	-	NC_000019.10:g.42354664T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Phe1366Leu	rs1213761681	missense variant	-	NC_000019.10:g.42354672T>C	gnomAD
MEGF8	Q7Z7M0	p.Gly1368Ser	rs758888823	missense variant	-	NC_000019.10:g.42354678G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1370Ter	rs1195649417	stop gained	-	NC_000019.10:g.42354684C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg1371Trp	rs780609454	missense variant	-	NC_000019.10:g.42354687C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1373Gly	rs1426087562	missense variant	-	NC_000019.10:g.42354693A>G	TOPMed
MEGF8	Q7Z7M0	p.Pro1374Ser	rs1422960899	missense variant	-	NC_000019.10:g.42354696C>T	gnomAD
MEGF8	Q7Z7M0	p.Thr1376Ala	rs755317091	missense variant	-	NC_000019.10:g.42354702A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val1377Ile	rs373459551	missense variant	-	NC_000019.10:g.42354705G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1377Asp	rs1330760867	missense variant	-	NC_000019.10:g.42354706T>A	gnomAD
MEGF8	Q7Z7M0	p.Ala1379Val	rs1156901466	missense variant	-	NC_000019.10:g.42354712C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly1382Glu	rs1210632145	missense variant	-	NC_000019.10:g.42355758G>A	gnomAD
MEGF8	Q7Z7M0	p.Leu1384Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42355763C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Val1385Met	rs369352974	missense variant	-	NC_000019.10:g.42355766G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1385Leu	rs369352974	missense variant	-	NC_000019.10:g.42355766G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1387Tyr	rs1238674675	missense variant	-	NC_000019.10:g.42355772C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala1390Thr	rs1423373116	missense variant	-	NC_000019.10:g.42355781G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1392Asp	rs745383186	missense variant	-	NC_000019.10:g.42355788G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1392Ser	rs778640003	missense variant	-	NC_000019.10:g.42355787G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1393Phe	rs1464353358	missense variant	-	NC_000019.10:g.42355791C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser1394Leu	rs1331281435	missense variant	-	NC_000019.10:g.42355794C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser1395Phe	RCV000692193	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42355797C>T	ClinVar
MEGF8	Q7Z7M0	p.Gly1397Ser	rs779883123	missense variant	-	NC_000019.10:g.42355802G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Phe1398Val	rs1272565135	missense variant	-	NC_000019.10:g.42355805T>G	gnomAD
MEGF8	Q7Z7M0	p.Asn1399Ser	rs536724995	missense variant	-	NC_000019.10:g.42355809A>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1401Thr	rs1408100730	missense variant	-	NC_000019.10:g.42355814T>A	TOPMed
MEGF8	Q7Z7M0	p.Ser1401Leu	rs768453015	missense variant	-	NC_000019.10:g.42355815C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1403Val	rs770011525	missense variant	-	NC_000019.10:g.42355821G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1403Ala	rs770011525	missense variant	-	NC_000019.10:g.42355821G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1405Thr	COSM1394145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42355826G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg1406Cys	rs762968675	missense variant	-	NC_000019.10:g.42355829C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1406His	rs1431656000	missense variant	-	NC_000019.10:g.42355830G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1408Glu	rs1477073032	missense variant	-	NC_000019.10:g.42355836G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1408Val	COSM997384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42355836G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly1411Val	rs766442833	missense variant	-	NC_000019.10:g.42355845G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1411Asp	rs766442833	missense variant	-	NC_000019.10:g.42355845G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1412Ser	rs760139304	missense variant	-	NC_000019.10:g.42355847C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1412Thr	rs760139304	missense variant	-	NC_000019.10:g.42355847C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1413Arg	rs768127043	missense variant	-	NC_000019.10:g.42355850G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1414Ile	rs1274301192	missense variant	-	NC_000019.10:g.42355854G>T	TOPMed
MEGF8	Q7Z7M0	p.Pro1416Leu	rs1337933774	missense variant	-	NC_000019.10:g.42355860C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1416Ser	rs1294951827	missense variant	-	NC_000019.10:g.42355859C>T	gnomAD
MEGF8	Q7Z7M0	p.Val1417Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42355863T>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Val1417Ile	rs756485611	missense variant	-	NC_000019.10:g.42355862G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1417Phe	rs756485611	missense variant	-	NC_000019.10:g.42355862G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1420Ter	rs1319992918	stop gained	-	NC_000019.10:g.42355871G>T	gnomAD
MEGF8	Q7Z7M0	p.Glu1420Ala	rs148217267	missense variant	-	NC_000019.10:g.42355872A>C	ESP,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1422Met	rs141221243	missense variant	-	NC_000019.10:g.42355877G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1423Leu	rs1271370064	missense variant	-	NC_000019.10:g.42355881C>T	gnomAD
MEGF8	Q7Z7M0	p.Asp1425Gly	rs757955337	missense variant	-	NC_000019.10:g.42355887A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1426Ala	rs754972626	missense variant	-	NC_000019.10:g.42355890G>C	ExAC
MEGF8	Q7Z7M0	p.Gly1426Ser	rs746486631	missense variant	-	NC_000019.10:g.42355889G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1428Val	rs781043047	missense variant	-	NC_000019.10:g.42355896C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1428Gly	rs781043047	missense variant	-	NC_000019.10:g.42355896C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1429Val	rs747951716	missense variant	-	NC_000019.10:g.42355899G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1430Val	rs777183202	missense variant	-	NC_000019.10:g.42355902C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1432Phe	rs1433947083	missense variant	-	NC_000019.10:g.42355907C>T	TOPMed
MEGF8	Q7Z7M0	p.Cys1433Tyr	rs150661961	missense variant	-	NC_000019.10:g.42355911G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1434Ter	rs1035497941	stop gained	-	NC_000019.10:g.42355913C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1434Gln	rs774551623	missense variant	-	NC_000019.10:g.42355914G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys1435Arg	rs759465531	missense variant	-	NC_000019.10:g.42355916T>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln1437Pro	rs1283573671	missense variant	-	NC_000019.10:g.42355923A>C	gnomAD
MEGF8	Q7Z7M0	p.Gly1438Ser	rs1356921876	missense variant	-	NC_000019.10:g.42355925G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1441Asp	RCV000528202	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42355935G>A	ClinVar
MEGF8	Q7Z7M0	p.Gly1441Asp	rs1229026252	missense variant	-	NC_000019.10:g.42355935G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1442Ser	rs1351522248	missense variant	-	NC_000019.10:g.42355937C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1442Leu	rs1224531592	missense variant	-	NC_000019.10:g.42355938C>T	TOPMed
MEGF8	Q7Z7M0	p.His1443Pro	rs768149358	missense variant	-	NC_000019.10:g.42355941A>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1443Arg	rs768149358	missense variant	-	NC_000019.10:g.42355941A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys1444Phe	rs776088296	missense variant	-	NC_000019.10:g.42355944G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1445Leu	rs138904325	missense variant	-	NC_000019.10:g.42355947G>T	ESP,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1445His	rs138904325	missense variant	-	NC_000019.10:g.42355947G>A	ESP,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1445Cys	rs374942873	missense variant	-	NC_000019.10:g.42355946C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met1446Val	rs539733408	missense variant	-	NC_000019.10:g.42355949A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1448Val	rs758127113	missense variant	-	NC_000019.10:g.42355955C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1451Lys	rs1418518075	missense variant	-	NC_000019.10:g.42355964G>A	gnomAD
MEGF8	Q7Z7M0	p.Asn1454Ser	rs1412584261	missense variant	-	NC_000019.10:g.42355974A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn1454Asp	rs1386652923	missense variant	-	NC_000019.10:g.42355973A>G	gnomAD
MEGF8	Q7Z7M0	p.Thr1457Ile	rs754429015	missense variant	-	NC_000019.10:g.42355983C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1458Arg	rs1341047940	missense variant	-	NC_000019.10:g.42355985G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1458Val	rs781130941	missense variant	-	NC_000019.10:g.42355986G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1458Glu	rs781130941	missense variant	-	NC_000019.10:g.42355986G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1461Ile	rs1466343768	missense variant	-	NC_000019.10:g.42355995C>T	TOPMed
MEGF8	Q7Z7M0	p.Asn1463Tyr	rs748037792	missense variant	-	NC_000019.10:g.42356000A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1465Thr	rs1256757653	missense variant	-	NC_000019.10:g.42356084G>C	gnomAD
MEGF8	Q7Z7M0	p.Leu1466Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42356086C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Leu1466Arg	rs1457706665	missense variant	-	NC_000019.10:g.42356087T>G	gnomAD
MEGF8	Q7Z7M0	p.Gly1467Ala	rs1252062676	missense variant	-	NC_000019.10:g.42356090G>C	gnomAD
MEGF8	Q7Z7M0	p.Gly1467Val	rs1252062676	missense variant	-	NC_000019.10:g.42356090G>T	gnomAD
MEGF8	Q7Z7M0	p.Cys1469Tyr	rs1377797814	missense variant	-	NC_000019.10:g.42356096G>A	gnomAD
MEGF8	Q7Z7M0	p.Ile1470Leu	rs1481325191	missense variant	-	NC_000019.10:g.42356098A>C	gnomAD
MEGF8	Q7Z7M0	p.Ala1472Thr	rs1168236129	missense variant	-	NC_000019.10:g.42356104G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala1472Val	rs147539384	missense variant	-	NC_000019.10:g.42356105C>T	ESP,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1473Lys	rs746128972	missense variant	-	NC_000019.10:g.42356107G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1473Gly	rs1355415184	missense variant	-	NC_000019.10:g.42356108A>G	TOPMed
MEGF8	Q7Z7M0	p.Gly1474Ser	rs772400231	missense variant	-	NC_000019.10:g.42356110G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1474Asp	rs1385102968	missense variant	-	NC_000019.10:g.42356111G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1476Trp	rs747079911	missense variant	-	NC_000019.10:g.42356116G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1476Arg	rs747079911	missense variant	-	NC_000019.10:g.42356116G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1477Asp	rs865956745	missense variant	-	NC_000019.10:g.42356120G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp1479Asn	rs776947766	missense variant	-	NC_000019.10:g.42356125G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys1480Tyr	rs770016000	missense variant	-	NC_000019.10:g.42356129G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1481Thr	rs781123189	missense variant	-	NC_000019.10:g.42356131G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Lys1483Asn	rs1262221754	missense variant	-	NC_000019.10:g.42356139G>C	gnomAD
MEGF8	Q7Z7M0	p.Lys1483Thr	rs752273945	missense variant	-	NC_000019.10:g.42356138A>C	ExAC
MEGF8	Q7Z7M0	p.Lys1483Glu	rs1191309745	missense variant	-	NC_000019.10:g.42356137A>G	gnomAD
MEGF8	Q7Z7M0	p.Lys1483Met	rs752273945	missense variant	-	NC_000019.10:g.42356138A>T	ExAC
MEGF8	Q7Z7M0	p.Leu1484Val	rs1477987209	missense variant	-	NC_000019.10:g.42356140C>G	gnomAD
MEGF8	Q7Z7M0	p.Asp1485Gly	rs1172486350	missense variant	-	NC_000019.10:g.42356144A>G	gnomAD
MEGF8	Q7Z7M0	p.Gly1487Arg	rs764112268	missense variant	-	NC_000019.10:g.42356149G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln1488His	rs1442834841	missense variant	-	NC_000019.10:g.42356154G>C	TOPMed
MEGF8	Q7Z7M0	p.Val1490Phe	COSM474809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42356158G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Trp1491Ser	rs750229800	missense variant	-	NC_000019.10:g.42356162G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Trp1491Gly	rs778618329	missense variant	-	NC_000019.10:g.42356161T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1493Asn	rs758759457	missense variant	-	NC_000019.10:g.42356168C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1494Val	rs780355005	missense variant	-	NC_000019.10:g.42356170C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1494Phe	rs780355005	missense variant	-	NC_000019.10:g.42356170C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1497Arg	rs1243521460	missense variant	-	NC_000019.10:g.42356181C>A	gnomAD
MEGF8	Q7Z7M0	p.Ser1497Asn	rs1037700454	missense variant	-	NC_000019.10:g.42356180G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser1497Ile	rs1037700454	missense variant	-	NC_000019.10:g.42356180G>T	gnomAD
MEGF8	Q7Z7M0	p.Arg1498Cys	rs747096596	missense variant	-	NC_000019.10:g.42356182C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1498His	rs1360905851	missense variant	-	NC_000019.10:g.42356183G>A	gnomAD
MEGF8	Q7Z7M0	p.Leu1499Val	rs754966620	missense variant	-	NC_000019.10:g.42356185C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1500Leu	rs1284819023	missense variant	-	NC_000019.10:g.42356189C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser1500Pro	COSM3823235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42356188T>C	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ser1500Ter	COSM712667	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42356189C>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala1501Val	rs1486099836	missense variant	-	NC_000019.10:g.42356192C>T	gnomAD
MEGF8	Q7Z7M0	p.Thr1503Ala	rs1422082418	missense variant	-	NC_000019.10:g.42356338A>G	gnomAD
MEGF8	Q7Z7M0	p.Ala1504Val	rs1357792592	missense variant	-	NC_000019.10:g.42356342C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala1504Thr	COSM997393	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42356341G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg1506Cys	rs142361779	missense variant	-	NC_000019.10:g.42356347C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1506His	rs749669318	missense variant	-	NC_000019.10:g.42356348G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1508Met	rs1330075223	missense variant	-	NC_000019.10:g.42356353C>A	gnomAD
MEGF8	Q7Z7M0	p.His1509Arg	rs771242519	missense variant	-	NC_000019.10:g.42356357A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1510Cys	rs774663979	missense variant	-	NC_000019.10:g.42356359C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1510His	rs541874206	missense variant	-	NC_000019.10:g.42356360G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1510Leu	rs541874206	missense variant	-	NC_000019.10:g.42356360G>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1516Met	rs1450062353	missense variant	-	NC_000019.10:g.42356377G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp1517Ala	rs1174761169	missense variant	-	NC_000019.10:g.42356381A>C	TOPMed
MEGF8	Q7Z7M0	p.Asp1520Asn	rs761320396	missense variant	-	NC_000019.10:g.42356389G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Trp1524Arg	rs998320232	missense variant	-	NC_000019.10:g.42356401T>C	TOPMed
MEGF8	Q7Z7M0	p.Met1525Ile	rs1232390253	missense variant	-	NC_000019.10:g.42356406G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1527TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42356406_42356407insT	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly1528Asp	rs1179202062	missense variant	-	NC_000019.10:g.42356414G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1528Arg	rs773233865	missense variant	-	NC_000019.10:g.42356413G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1528Ser	rs773233865	missense variant	-	NC_000019.10:g.42356413G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1530Asp	rs1480343193	missense variant	-	NC_000019.10:g.42356420G>A	gnomAD
MEGF8	Q7Z7M0	p.Pro1532Ser	rs762873102	missense variant	-	NC_000019.10:g.42356425C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1536Gln	rs766319489	missense variant	-	NC_000019.10:g.42356438T>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1537Glu	rs1443676887	missense variant	-	NC_000019.10:g.42356441G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1541Lys	rs1291476334	missense variant	-	NC_000019.10:g.42356453G>A	gnomAD
MEGF8	Q7Z7M0	p.Glu1546Val	rs1342828618	missense variant	-	NC_000019.10:g.42356788A>T	TOPMed
MEGF8	Q7Z7M0	p.Arg1547Gln	rs372798483	missense variant	-	NC_000019.10:g.42356791G>A	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1547Trp	rs778503199	missense variant	-	NC_000019.10:g.42356790C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1548Trp	rs763033925	missense variant	-	NC_000019.10:g.42356793C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1548Gln	rs375249697	missense variant	-	NC_000019.10:g.42356794G>A	TOPMed
MEGF8	Q7Z7M0	p.Trp1549Ter	rs1476668807	stop gained	-	NC_000019.10:g.42356797G>A	gnomAD
MEGF8	Q7Z7M0	p.Thr1550Ser	rs1180565902	missense variant	-	NC_000019.10:g.42356799A>T	gnomAD
MEGF8	Q7Z7M0	p.Gln1551His	rs201947104	missense variant	-	NC_000019.10:g.42356804G>C	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Met1552Thr	rs901194855	missense variant	-	NC_000019.10:g.42356806T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1554Val	rs774083503	missense variant	-	NC_000019.10:g.42356812C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1557Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42356822G>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Glu1557Lys	rs767649270	missense variant	-	NC_000019.10:g.42356820G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1558Asn	rs1028418803	missense variant	-	NC_000019.10:g.42356823G>A	TOPMed
MEGF8	Q7Z7M0	p.Gly1559Arg	rs760852092	missense variant	-	NC_000019.10:g.42356826G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1560Cys	rs1246771630	missense variant	-	NC_000019.10:g.42356829G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1560Val	rs753896870	missense variant	-	NC_000019.10:g.42356830G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1560Ser	rs1246771630	missense variant	-	NC_000019.10:g.42356829G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1561Leu	rs144124759	missense variant	-	NC_000019.10:g.42356833C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1563Arg	rs1285412041	missense variant	-	NC_000019.10:g.42356839C>G	gnomAD
MEGF8	Q7Z7M0	p.Ser1564Pro	rs750766731	missense variant	-	NC_000019.10:g.42356841T>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1564Leu	rs758739283	missense variant	-	NC_000019.10:g.42356842C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1565Ser	rs1444767873	missense variant	-	NC_000019.10:g.42356844C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1566Cys	rs1184873585	missense variant	-	NC_000019.10:g.42356847C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1566His	RCV000033072	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42356848G>A	ClinVar
MEGF8	Q7Z7M0	p.Arg1566Pro	rs397515427	missense variant	-	NC_000019.10:g.42356848G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1566His	rs397515427	missense variant	-	NC_000019.10:g.42356848G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1566His	rs397515427	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42356848G>A	UniProt,dbSNP
MEGF8	Q7Z7M0	p.Arg1566His	VAR_069306	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42356848G>A	UniProt
MEGF8	Q7Z7M0	p.Phe1568Leu	rs747875374	missense variant	-	NC_000019.10:g.42356853T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Phe1568Ser	rs376812395	missense variant	-	NC_000019.10:g.42356854T>C	ESP,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Phe1568Leu	rs966849148	missense variant	-	NC_000019.10:g.42356855C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1570Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42356859G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala1571Val	rs1412493418	missense variant	-	NC_000019.10:g.42356863C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala1572Thr	rs777483950	missense variant	-	NC_000019.10:g.42356865G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1576Thr	rs771000965	missense variant	-	NC_000019.10:g.42356877G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1577Ser	rs1238613009	missense variant	-	NC_000019.10:g.42356880G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1578His	rs759275421	missense variant	-	NC_000019.10:g.42356884G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1578Cys	rs774288940	missense variant	-	NC_000019.10:g.42356883C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1580Val	rs557012688	missense variant	-	NC_000019.10:g.42356890C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1580Thr	rs1217813236	missense variant	-	NC_000019.10:g.42356889G>A	gnomAD
MEGF8	Q7Z7M0	p.Met1581Ile	rs77422116	missense variant	-	NC_000019.10:g.42356894G>C	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1586AspPheSerTerUnkUnkUnk	rs769979815	frameshift	-	NC_000019.10:g.42356903G>-	NCI-TCGA,NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly1586Ala	rs1365155635	missense variant	-	NC_000019.10:g.42356908G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1587Ile	rs764292493	missense variant	-	NC_000019.10:g.42356910C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1587Phe	rs764292493	missense variant	-	NC_000019.10:g.42356910C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1588Ile	rs753919019	missense variant	-	NC_000019.10:g.42356914C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1588Asn	rs753919019	missense variant	-	NC_000019.10:g.42356914C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1588Ser	rs753919019	missense variant	-	NC_000019.10:g.42356914C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1589Ser	rs375545228	missense variant	-	NC_000019.10:g.42356916G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1589Thr	rs375545228	missense variant	-	NC_000019.10:g.42356916G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1590Arg	rs1168370746	missense variant	-	NC_000019.10:g.42356919G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1591Val	rs1390847435	missense variant	-	NC_000019.10:g.42356923G>T	gnomAD
MEGF8	Q7Z7M0	p.Gly1591Ser	rs1394464875	missense variant	-	NC_000019.10:g.42356922G>A	gnomAD
MEGF8	Q7Z7M0	p.Val1592Ile	rs758801392	missense variant	-	NC_000019.10:g.42356925G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1593Ala	rs564045592	missense variant	-	NC_000019.10:g.42356928A>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1593Ser	COSM439662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42356928A>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg1594Cys	rs1283029110	missense variant	-	NC_000019.10:g.42356931C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1594His	rs141153248	missense variant	-	NC_000019.10:g.42356932G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Phe1596Leu	rs144595008	missense variant	-	NC_000019.10:g.42356937T>C	ESP,gnomAD
MEGF8	Q7Z7M0	p.Trp1597Ter	rs1256662215	stop gained	-	NC_000019.10:g.42356941G>A	gnomAD
MEGF8	Q7Z7M0	p.Val1598Leu	rs755897855	missense variant	-	NC_000019.10:g.42356943G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1599Phe	rs1195835686	missense variant	-	NC_000019.10:g.42356946C>T	gnomAD
MEGF8	Q7Z7M0	p.Asn1600Ser	rs748825495	missense variant	-	NC_000019.10:g.42356950A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1602Ser	rs1269341163	missense variant	-	NC_000019.10:g.42356956C>G	gnomAD
MEGF8	Q7Z7M0	p.Gln1605Ter	rs1191449394	stop gained	-	NC_000019.10:g.42356964C>T	gnomAD
MEGF8	Q7Z7M0	p.Trp1606Arg	rs1372410745	missense variant	-	NC_000019.10:g.42356967T>C	gnomAD
MEGF8	Q7Z7M0	p.Trp1606Ter	rs1461581860	stop gained	-	NC_000019.10:g.42356968G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1607Gln	rs771888892	missense variant	-	NC_000019.10:g.42356971G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1607Trp	rs778751036	missense variant	-	NC_000019.10:g.42356970C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln1608His	rs775418910	missense variant	-	NC_000019.10:g.42356975G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1609Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42356978G>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Lys1610Met	rs746735812	missense variant	-	NC_000019.10:g.42356980A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1611Thr	rs1210304605	missense variant	-	NC_000019.10:g.42357404G>A	TOPMed
MEGF8	Q7Z7M0	p.Ala1611Gly	rs779797232	missense variant	-	NC_000019.10:g.42357405C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1612Leu	rs138397020	missense variant	-	NC_000019.10:g.42357408C>T	ESP,TOPMed
MEGF8	Q7Z7M0	p.Pro1612His	rs138397020	missense variant	-	NC_000019.10:g.42357408C>A	ESP,TOPMed
MEGF8	Q7Z7M0	p.Pro1612Ser	rs746827747	missense variant	-	NC_000019.10:g.42357407C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln1613Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42357410C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Gln1613Ter	rs927269746	stop gained	-	NC_000019.10:g.42357410C>T	TOPMed
MEGF8	Q7Z7M0	p.Val1615Met	rs1054502372	missense variant	-	NC_000019.10:g.42357416G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1619Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42357428G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala1619Val	rs913420234	missense variant	-	NC_000019.10:g.42357429C>T	gnomAD
MEGF8	Q7Z7M0	p.Val1620Ile	rs748419823	missense variant	-	NC_000019.10:g.42357431G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1622Asp	rs1386153968	missense variant	-	NC_000019.10:g.42357438G>A	gnomAD
MEGF8	Q7Z7M0	p.Leu1625Val	COSM3990063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42357446C>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala1627Thr	rs769897000	missense variant	-	NC_000019.10:g.42357452G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1628His	rs1446634762	missense variant	-	NC_000019.10:g.42357456G>A	TOPMed
MEGF8	Q7Z7M0	p.Arg1628Cys	rs371138631	missense variant	-	NC_000019.10:g.42357455C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1629Ter	rs1057001386	stop gained	-	NC_000019.10:g.42357458C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1629Gln	rs762874704	missense variant	-	NC_000019.10:g.42357459G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1630Ser	rs766927080	missense variant	-	NC_000019.10:g.42357461G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1630Cys	rs766927080	missense variant	-	NC_000019.10:g.42357461G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1632Pro	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42357467T>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Leu1635Met	rs1317347461	missense variant	-	NC_000019.10:g.42357476C>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1638Ser	rs757795832	missense variant	-	NC_000019.10:g.42357485G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1638Cys	rs757795832	missense variant	-	NC_000019.10:g.42357485G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Tyr1639Ser	rs1012952158	missense variant	-	NC_000019.10:g.42357489A>C	TOPMed
MEGF8	Q7Z7M0	p.Ser1640Pro	rs779996043	missense variant	-	NC_000019.10:g.42357491T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1640Thr	COSM5150222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42357491T>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ser1640Phe	COSM3534767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42357492C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro1641Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42357494C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro1641Leu	rs200200636	missense variant	-	NC_000019.10:g.42357495C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1641Thr	rs1484252887	missense variant	-	NC_000019.10:g.42357494C>A	gnomAD
MEGF8	Q7Z7M0	p.Asn1643Asp	rs781022903	missense variant	-	NC_000019.10:g.42357500A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn1646Ile	COSM997396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42357510A>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gln1647Ter	rs770062059	stop gained	-	NC_000019.10:g.42357512C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln1647Lys	rs770062059	missense variant	-	NC_000019.10:g.42357512C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln1648Lys	rs777801738	missense variant	-	NC_000019.10:g.42357515C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1651Gln	rs1177703345	missense variant	-	NC_000019.10:g.42357524G>C	gnomAD
MEGF8	Q7Z7M0	p.Gln1653His	rs1198885176	missense variant	-	NC_000019.10:g.42357532G>T	TOPMed
MEGF8	Q7Z7M0	p.Thr1656Ala	rs1407686097	missense variant	-	NC_000019.10:g.42357539A>G	gnomAD
MEGF8	Q7Z7M0	p.Gly1657Ser	rs770879154	missense variant	-	NC_000019.10:g.42357542G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1657Arg	rs770879154	missense variant	-	NC_000019.10:g.42357542G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1657Cys	rs770879154	missense variant	-	NC_000019.10:g.42357542G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1660Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42357551G>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Val1660Met	rs1312076118	missense variant	-	NC_000019.10:g.42357551G>A	TOPMed
MEGF8	Q7Z7M0	p.Ser1661Leu	rs760174580	missense variant	-	NC_000019.10:g.42357555C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1662Ala	rs772698035	missense variant	-	NC_000019.10:g.42357558G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1668Arg	rs750002229	missense variant	-	NC_000019.10:g.42357576C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1670GlnPheSerTerUnkUnk	COSM1394157	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42357575C>-	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Leu1672Ile	rs373373576	missense variant	-	NC_000019.10:g.42358146C>A	ESP,gnomAD
MEGF8	Q7Z7M0	p.Tyr1673Cys	rs143215498	missense variant	-	NC_000019.10:g.42358150A>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1681Lys	rs767465945	missense variant	-	NC_000019.10:g.42358173G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1684Asn	rs1243176183	missense variant	-	NC_000019.10:g.42358182G>A	gnomAD
MEGF8	Q7Z7M0	p.Tyr1687Cys	rs1181212329	missense variant	-	NC_000019.10:g.42358192A>G	gnomAD
MEGF8	Q7Z7M0	p.Val1688Met	rs763848067	missense variant	-	NC_000019.10:g.42358194G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1688Glu	rs1184120440	missense variant	-	NC_000019.10:g.42358195T>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1690Arg	rs1416418731	missense variant	-	NC_000019.10:g.42358200G>C	TOPMed
MEGF8	Q7Z7M0	p.Phe1692Leu	rs757553830	missense variant	-	NC_000019.10:g.42358208C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1693Ter	rs1009453797	stop gained	-	NC_000019.10:g.42358209C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg1693Gln	rs992148309	missense variant	-	NC_000019.10:g.42358210G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1695Leu	rs779216381	missense variant	-	NC_000019.10:g.42358216A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.His1695Tyr	rs1437438277	missense variant	-	NC_000019.10:g.42358215C>T	gnomAD
MEGF8	Q7Z7M0	p.Val1696Leu	rs1382040371	missense variant	-	NC_000019.10:g.42358218G>T	gnomAD
MEGF8	Q7Z7M0	p.Glu1697Lys	rs1349042692	missense variant	-	NC_000019.10:g.42358221G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala1699Val	rs745965273	missense variant	-	NC_000019.10:g.42358228C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1699Thr	COSM4078763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42358227G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala1700Thr	rs1241997062	missense variant	-	NC_000019.10:g.42358230G>A	gnomAD
MEGF8	Q7Z7M0	p.Pro1703Thr	rs532969963	missense variant	-	NC_000019.10:g.42358239C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1703Ser	rs532969963	missense variant	-	NC_000019.10:g.42358239C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1704Lys	rs747518909	missense variant	-	NC_000019.10:g.42358242G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1705Ile	rs1413823543	missense variant	-	NC_000019.10:g.42358245C>A	gnomAD
MEGF8	Q7Z7M0	p.Tyr1706Asn	rs776927604	missense variant	-	NC_000019.10:g.42358248T>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1707Thr	rs1396655020	missense variant	-	NC_000019.10:g.42358251T>A	gnomAD
MEGF8	Q7Z7M0	p.His1709Tyr	rs770586263	missense variant	-	NC_000019.10:g.42358257C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1711Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42358263C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro1711Leu	rs773945286	missense variant	-	NC_000019.10:g.42358264C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1713His	rs367825461	missense variant	-	NC_000019.10:g.42358270G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1713Cys	rs1289388024	missense variant	-	NC_000019.10:g.42358269C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1714Ile	rs767056887	missense variant	-	NC_000019.10:g.42358273C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Trp1715Ter	rs1296638034	stop gained	-	NC_000019.10:g.42358276G>A	TOPMed
MEGF8	Q7Z7M0	p.Leu1717Gln	rs775046696	missense variant	-	NC_000019.10:g.42358282T>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1720Leu	rs1270514217	missense variant	-	NC_000019.10:g.42358291C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser1721Pro	rs760591664	missense variant	-	NC_000019.10:g.42358293T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1723Trp	rs764022580	missense variant	-	NC_000019.10:g.42358299G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1723Arg	rs764022580	missense variant	-	NC_000019.10:g.42358299G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1723Ala	rs757067402	missense variant	-	NC_000019.10:g.42358300G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1723Arg	rs764022580	missense variant	-	NC_000019.10:g.42358299G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1724Thr	rs575409028	missense variant	-	NC_000019.10:g.42358302G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1724Ser	rs575409028	missense variant	-	NC_000019.10:g.42358302G>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1726Ter	rs760169784	stop gained	-	NC_000019.10:g.42358787C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1726Gln	rs768497871	missense variant	-	NC_000019.10:g.42358788G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1728His	rs776666559	missense variant	-	NC_000019.10:g.42358794G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1728Cys	rs1316794438	missense variant	-	NC_000019.10:g.42358793C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met1729Ile	rs761809949	missense variant	-	NC_000019.10:g.42358798G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met1729Ile	rs761809949	missense variant	-	NC_000019.10:g.42358798G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1730Ser	rs1187157009	missense variant	-	NC_000019.10:g.42358801G>C	TOPMed
MEGF8	Q7Z7M0	p.Arg1730Thr	rs540356511	missense variant	-	NC_000019.10:g.42358800G>C	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1730Met	rs540356511	missense variant	-	NC_000019.10:g.42358800G>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1730Ser	rs1187157009	missense variant	-	NC_000019.10:g.42358801G>T	TOPMed
MEGF8	Q7Z7M0	p.Arg1733Leu	rs371976691	missense variant	-	NC_000019.10:g.42358809G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1733His	rs371976691	missense variant	-	NC_000019.10:g.42358809G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1733Gly	rs113983707	missense variant	-	NC_000019.10:g.42358808C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1733Cys	rs113983707	missense variant	-	NC_000019.10:g.42358808C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1734Ser	rs1265815807	missense variant	-	NC_000019.10:g.42358811G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser1735Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.42358815C>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Ser1736Phe	rs751604046	missense variant	-	NC_000019.10:g.42358818C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1737Trp	rs375083726	missense variant	-	NC_000019.10:g.42358820C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1737Gln	rs781582606	missense variant	-	NC_000019.10:g.42358821G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1738Val	rs1392034850	missense variant	-	NC_000019.10:g.42358824G>T	gnomAD
MEGF8	Q7Z7M0	p.Leu1739Val	rs1257833812	missense variant	-	NC_000019.10:g.42358826C>G	TOPMed
MEGF8	Q7Z7M0	p.Gly1740Asp	rs372360723	missense variant	-	NC_000019.10:g.42358830G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1740Ser	rs369842921	missense variant	-	NC_000019.10:g.42358829G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1743Ser	rs778172293	missense variant	-	NC_000019.10:g.42358838C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1747Ser	rs147522761	missense variant	-	NC_000019.10:g.42358850C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1748Glu	rs1384865940	missense variant	-	NC_000019.10:g.42358854G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser1749Ala	rs1301150909	missense variant	-	NC_000019.10:g.42358856T>G	TOPMed
MEGF8	Q7Z7M0	p.Trp1750Ter	rs1321990138	stop gained	-	NC_000019.10:g.42358860G>A	gnomAD
MEGF8	Q7Z7M0	p.Phe1752Leu	rs771633323	missense variant	-	NC_000019.10:g.42358865T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1753Trp	rs139859934	missense variant	-	NC_000019.10:g.42358868C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1753Gln	rs201626121	missense variant	-	NC_000019.10:g.42358869G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1753Leu	rs201626121	missense variant	-	NC_000019.10:g.42358869G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1754Lys	COSM3534776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42358871G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg1756Gly	rs776256709	missense variant	-	NC_000019.10:g.42358877A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Lys1758Glu	rs1206038	missense variant	-	NC_000019.10:g.42358883A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Lys1758Arg	rs1013809333	missense variant	-	NC_000019.10:g.42358884A>G	TOPMed
MEGF8	Q7Z7M0	p.Met1759Val	rs562782890	missense variant	-	NC_000019.10:g.42358886A>G	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Met1759Ile	rs1459995421	missense variant	-	NC_000019.10:g.42358888G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala1760Thr	rs773145911	missense variant	-	NC_000019.10:g.42358889G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1760Val	rs1413977081	missense variant	-	NC_000019.10:g.42358890C>T	TOPMed
MEGF8	Q7Z7M0	p.Leu1761Val	RCV000527674	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42358892C>G	ClinVar
MEGF8	Q7Z7M0	p.Leu1761Val	rs150607375	missense variant	-	NC_000019.10:g.42358892C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1763Val	rs767687495	missense variant	-	NC_000019.10:g.42358899C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1763Thr	rs751766816	missense variant	-	NC_000019.10:g.42358898G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1763Ser	rs751766816	missense variant	-	NC_000019.10:g.42358898G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1765Phe	rs1201933643	missense variant	-	NC_000019.10:g.42358904C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1765Val	rs1201933643	missense variant	-	NC_000019.10:g.42358904C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1766Gly	rs752764127	missense variant	-	NC_000019.10:g.42358908C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1767Ser	rs1458236021	missense variant	-	NC_000019.10:g.42358910G>A	gnomAD
MEGF8	Q7Z7M0	p.Thr1768Ala	rs756683475	missense variant	-	NC_000019.10:g.42358913A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1769Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.42358916G>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Phe1771Ser	rs1303112911	missense variant	-	NC_000019.10:g.42358923T>C	gnomAD
MEGF8	Q7Z7M0	p.Glu1773Lys	rs754218851	missense variant	-	NC_000019.10:g.42358928G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1774Gln	rs149787596	missense variant	-	NC_000019.10:g.42358931G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ile1775Thr	rs1230170731	missense variant	-	NC_000019.10:g.42358935T>C	gnomAD
MEGF8	Q7Z7M0	p.Pro1777Ser	rs779113255	missense variant	-	NC_000019.10:g.42358940C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.His1778Asn	rs746722708	missense variant	-	NC_000019.10:g.42358943C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1782Leu	rs537432708	missense variant	-	NC_000019.10:g.42359099C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1782Ser	rs1364655817	missense variant	-	NC_000019.10:g.42359098C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg1783Cys	rs373745990	missense variant	-	NC_000019.10:g.42359101C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1783His	rs183945597	missense variant	-	NC_000019.10:g.42359102G>A	1000Genomes,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1784Arg	rs1297229430	missense variant	-	NC_000019.10:g.42359105C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1784Leu	rs1297229430	missense variant	-	NC_000019.10:g.42359105C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1785Trp	rs772299336	missense variant	-	NC_000019.10:g.42359107C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1785Gln	rs775645539	missense variant	-	NC_000019.10:g.42359108G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1788Pro	rs1460204206	missense variant	-	NC_000019.10:g.42359117A>C	TOPMed
MEGF8	Q7Z7M0	p.Ala1789Ser	rs376869149	missense variant	-	NC_000019.10:g.42359119G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1789Thr	rs376869149	missense variant	-	NC_000019.10:g.42359119G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1791Ser	rs370106282	missense variant	-	NC_000019.10:g.42359125G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1794Trp	rs144734416	missense variant	-	NC_000019.10:g.42359134G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1795Asn	rs765595234	missense variant	-	NC_000019.10:g.42359137G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1795Tyr	rs765595234	missense variant	-	NC_000019.10:g.42359137G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met1797Thr	rs1166880621	missense variant	-	NC_000019.10:g.42359144T>C	gnomAD
MEGF8	Q7Z7M0	p.Met1797Val	rs758787847	missense variant	-	NC_000019.10:g.42359143A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val1798Ala	rs1343364367	missense variant	-	NC_000019.10:g.42359147T>C	gnomAD
MEGF8	Q7Z7M0	p.Val1799Ile	rs767310853	missense variant	-	NC_000019.10:g.42359149G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1799Phe	rs767310853	missense variant	-	NC_000019.10:g.42359149G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1801Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42359156G>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly1801Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42359155G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg1803AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42359155G>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg1803Cys	rs755807533	missense variant	-	NC_000019.10:g.42359161C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1803His	rs777401427	missense variant	-	NC_000019.10:g.42359162G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1804Pro	rs748747156	missense variant	-	NC_000019.10:g.42359164T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1804Thr	COSM3534779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42359164T>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ser1804Leu	rs757227265	missense variant	-	NC_000019.10:g.42359165C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1805Asn	rs1208577092	missense variant	-	NC_000019.10:g.42359167G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp1807Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42359174A>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Asp1807Glu	rs377685078	missense variant	-	NC_000019.10:g.42359175C>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1807Glu	rs377685078	missense variant	-	NC_000019.10:g.42359175C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1808Lys	RCV000593710	missense variant	-	NC_000019.10:g.42359176G>A	ClinVar
MEGF8	Q7Z7M0	p.Glu1808Lys	rs771890594	missense variant	-	NC_000019.10:g.42359176G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp1812Asn	rs747286989	missense variant	-	NC_000019.10:g.42359188G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1813Ile	rs375636196	missense variant	-	NC_000019.10:g.42359191G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1814Pro	rs761740209	missense variant	-	NC_000019.10:g.42359195T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1814Arg	COSM1564398	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42359195T>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gln1817Glu	rs1159767707	missense variant	-	NC_000019.10:g.42359203C>G	gnomAD
MEGF8	Q7Z7M0	p.Val1818Leu	rs1458856147	missense variant	-	NC_000019.10:g.42359206G>C	gnomAD
MEGF8	Q7Z7M0	p.Cys1820Gly	rs770356408	missense variant	-	NC_000019.10:g.42359212T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu1824Phe	rs763524369	missense variant	-	NC_000019.10:g.42359224C>T	ExAC,TOPMed
MEGF8	Q7Z7M0	p.Leu1824Ile	rs763524369	missense variant	-	NC_000019.10:g.42359224C>A	ExAC,TOPMed
MEGF8	Q7Z7M0	p.Pro1826Arg	rs373601254	missense variant	-	NC_000019.10:g.42359231C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1827Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42359234A>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Asp1827Asn	rs753405679	missense variant	-	NC_000019.10:g.42359233G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1827Tyr	rs753405679	missense variant	-	NC_000019.10:g.42359233G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1828Phe	rs756677988	missense variant	-	NC_000019.10:g.42359236C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1829Asn	rs1021962670	missense variant	-	NC_000019.10:g.42359240C>A	gnomAD
MEGF8	Q7Z7M0	p.Thr1829Ile	rs1021962670	missense variant	-	NC_000019.10:g.42359240C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg1830Cys	rs778451338	missense variant	-	NC_000019.10:g.42359242C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1831Leu	rs139959427	missense variant	-	NC_000019.10:g.42360778C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1831Pro	rs1270404536	missense variant	-	NC_000019.10:g.42360777T>C	gnomAD
MEGF8	Q7Z7M0	p.Ala1832Pro	rs924070758	missense variant	-	NC_000019.10:g.42360780G>C	TOPMed
MEGF8	Q7Z7M0	p.Ser1833Phe	rs759962028	missense variant	-	NC_000019.10:g.42360784C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1834Ala	rs1489840022	missense variant	-	NC_000019.10:g.42360787T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1835Arg	rs1198032083	missense variant	-	NC_000019.10:g.42360789G>A	gnomAD
MEGF8	Q7Z7M0	p.Pro1836Leu	rs753468610	missense variant	-	NC_000019.10:g.42360793C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro1836Ser	rs1434425101	missense variant	-	NC_000019.10:g.42360792C>T	TOPMed
MEGF8	Q7Z7M0	p.Pro1837Ser	rs1388547768	missense variant	-	NC_000019.10:g.42360795C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1837Ala	rs1388547768	missense variant	-	NC_000019.10:g.42360795C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met1838Val	rs200501111	missense variant	-	NC_000019.10:g.42360798A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1840Ala	rs1323424925	missense variant	-	NC_000019.10:g.42360805A>C	gnomAD
MEGF8	Q7Z7M0	p.Glu1840Lys	rs764670241	missense variant	-	NC_000019.10:g.42360804G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser1841Thr	rs538368877	missense variant	-	NC_000019.10:g.42360807T>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val1842Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42360811T>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Val1842Met	rs143508185	missense variant	-	NC_000019.10:g.42360810G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val1842Leu	rs143508185	missense variant	-	NC_000019.10:g.42360810G>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1844Tyr	rs1228595988	missense variant	-	NC_000019.10:g.42360816C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala1847Val	rs765113981	missense variant	-	NC_000019.10:g.42360826C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1850Arg	rs754698123	missense variant	-	NC_000019.10:g.42360834G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1852His	rs556689644	missense variant	-	NC_000019.10:g.42360841G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1852Cys	rs751715083	missense variant	-	NC_000019.10:g.42360840C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Tyr1854Ter	rs749372231	stop gained	-	NC_000019.10:g.42360848T>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ile1855Met	rs1384146906	missense variant	-	NC_000019.10:g.42360851C>G	gnomAD
MEGF8	Q7Z7M0	p.Gly1860Arg	rs1392446692	missense variant	-	NC_000019.10:g.42360864G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1861GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42360864G>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly1861Arg	RCV000345932	missense variant	-	NC_000019.10:g.42360867G>A	ClinVar
MEGF8	Q7Z7M0	p.Gly1861Arg	rs774973725	missense variant	-	NC_000019.10:g.42360867G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val1862Met	rs772349120	missense variant	-	NC_000019.10:g.42360870G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1866His	rs1002807575	missense variant	-	NC_000019.10:g.42360883G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1866Cys	rs761380156	missense variant	-	NC_000019.10:g.42360882C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1871Pro	rs751528860	missense variant	-	NC_000019.10:g.42360897A>C	ExAC
MEGF8	Q7Z7M0	p.Leu1872Pro	rs1206671096	missense variant	-	NC_000019.10:g.42360901T>C	gnomAD
MEGF8	Q7Z7M0	p.Pro1873Leu	rs1228453357	missense variant	-	NC_000019.10:g.42360904C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1875Ala	rs767228232	missense variant	-	NC_000019.10:g.42360910A>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1878Cys	rs572272792	missense variant	-	NC_000019.10:g.42360918C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1878His	rs756355683	missense variant	-	NC_000019.10:g.42360919G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1878Pro	rs756355683	missense variant	-	NC_000019.10:g.42360919G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu1879Pro	rs1187296330	missense variant	-	NC_000019.10:g.42360922T>C	gnomAD
MEGF8	Q7Z7M0	p.Ser1881Phe	rs1369343441	missense variant	-	NC_000019.10:g.42360928C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1883Ser	rs1182765199	missense variant	-	NC_000019.10:g.42360933C>T	TOPMed
MEGF8	Q7Z7M0	p.Glu1884Gly	rs1482869200	missense variant	-	NC_000019.10:g.42360937A>G	TOPMed
MEGF8	Q7Z7M0	p.Glu1884Lys	rs1157522431	missense variant	-	NC_000019.10:g.42360936G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala1885Thr	rs757377529	missense variant	-	NC_000019.10:g.42360939G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln1888Arg	rs1399594867	missense variant	-	NC_000019.10:g.42360949A>G	gnomAD
MEGF8	Q7Z7M0	p.Gly1890Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42360955G>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly1890Glu	rs772567593	missense variant	-	NC_000019.10:g.42360955G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1890Arg	rs1211966094	missense variant	-	NC_000019.10:g.42360954G>A	TOPMed
MEGF8	Q7Z7M0	p.Ala1891Val	rs1283753084	missense variant	-	NC_000019.10:g.42360958C>T	TOPMed
MEGF8	Q7Z7M0	p.Cys1892Tyr	rs775787509	missense variant	-	NC_000019.10:g.42360961G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys1892Trp	COSM3783247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42360962C>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Thr1893Pro	rs747389441	missense variant	-	NC_000019.10:g.42360963A>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1893Ile	rs1331269212	missense variant	-	NC_000019.10:g.42360964C>T	TOPMed
MEGF8	Q7Z7M0	p.Cys1895Phe	rs990130007	missense variant	-	NC_000019.10:g.42360970G>T	TOPMed
MEGF8	Q7Z7M0	p.His1896Tyr	rs150311870	missense variant	-	NC_000019.10:g.42360972C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1896Leu	rs946184919	missense variant	-	NC_000019.10:g.42360973A>T	TOPMed
MEGF8	Q7Z7M0	p.Gly1897Arg	rs1262506920	missense variant	-	NC_000019.10:g.42360975G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1897Glu	rs772821463	missense variant	-	NC_000019.10:g.42360976G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1897Ala	rs772821463	missense variant	-	NC_000019.10:g.42360976G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1898Thr	rs1200046683	missense variant	-	NC_000019.10:g.42360978G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1902Arg	rs765896835	missense variant	-	NC_000019.10:g.42360990G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1902Arg	rs765896835	missense variant	-	NC_000019.10:g.42360990G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1903His	rs767483374	missense variant	-	NC_000019.10:g.42360993G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp1903Val	rs758042892	missense variant	-	NC_000019.10:g.42360994A>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1907Ser	rs1343266607	missense variant	-	NC_000019.10:g.42362090G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1907Gly	rs760492927	missense variant	-	NC_000019.10:g.42361005A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1909Ser	rs752130198	missense variant	-	NC_000019.10:g.42362094G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1911Arg	rs574708619	missense variant	-	NC_000019.10:g.42362100G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly1912Cys	rs371862361	missense variant	-	NC_000019.10:g.42362103G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1913Phe	COSM6084870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42362107C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro1914Ala	rs147084460	missense variant	-	NC_000019.10:g.42362109C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1914Leu	rs1162667034	missense variant	-	NC_000019.10:g.42362110C>T	gnomAD
MEGF8	Q7Z7M0	p.Cys1915AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42362107C>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Cys1915Trp	rs1458287210	missense variant	-	NC_000019.10:g.42362114C>G	gnomAD
MEGF8	Q7Z7M0	p.Met1918Leu	rs768713408	missense variant	-	NC_000019.10:g.42362121A>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met1918Ile	rs776629555	missense variant	-	NC_000019.10:g.42362123G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Met1918Val	rs768713408	missense variant	-	NC_000019.10:g.42362121A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1919Ser	rs1366432152	missense variant	-	NC_000019.10:g.42362124C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro1919Leu	rs761681313	missense variant	-	NC_000019.10:g.42362125C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1920Cys	rs765419448	missense variant	-	NC_000019.10:g.42362127C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1920His	rs773515719	missense variant	-	NC_000019.10:g.42362128G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1921Phe	rs763036582	missense variant	-	NC_000019.10:g.42362131C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1922Leu	rs766493787	missense variant	-	NC_000019.10:g.42362134C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu1924Lys	rs1248247868	missense variant	-	NC_000019.10:g.42362139G>A	gnomAD
MEGF8	Q7Z7M0	p.Cys1925Arg	rs755544228	missense variant	-	NC_000019.10:g.42362142T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1926Gln	rs1179905864	missense variant	-	NC_000019.10:g.42362146G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1927His	rs559115816	missense variant	-	NC_000019.10:g.42362149G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1927Cys	rs368438075	missense variant	-	NC_000019.10:g.42362148C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1929Gln	rs914334810	missense variant	-	NC_000019.10:g.42362155G>A	TOPMed
MEGF8	Q7Z7M0	p.Arg1929Trp	rs529688057	missense variant	-	NC_000019.10:g.42362154C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys1931Tyr	rs1455687444	missense variant	-	NC_000019.10:g.42362161G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser1932Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42362164G>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Glu1933Gly	rs1320206074	missense variant	-	NC_000019.10:g.42362167A>G	gnomAD
MEGF8	Q7Z7M0	p.Ala1936Thr	rs1389646411	missense variant	-	NC_000019.10:g.42362175G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1937Cys	rs777955709	missense variant	-	NC_000019.10:g.42362178C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1937His	rs745553573	missense variant	-	NC_000019.10:g.42362179G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1937Ser	rs777955709	missense variant	-	NC_000019.10:g.42362178C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His1938Tyr	rs757924699	missense variant	-	NC_000019.10:g.42362181C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1939Ser	rs746507572	missense variant	-	NC_000019.10:g.42362184C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1940Trp	rs768766308	missense variant	-	NC_000019.10:g.42362187C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg1940Gln	rs776680225	missense variant	-	NC_000019.10:g.42362188G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1945Arg	rs748061021	missense variant	-	NC_000019.10:g.42362202G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly1947Glu	COSM997405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42362209G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Glu1948Gln	rs542990173	missense variant	-	NC_000019.10:g.42362211G>C	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1948Lys	rs542990173	missense variant	-	NC_000019.10:g.42362211G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1948Asp	rs772826136	missense variant	-	NC_000019.10:g.42362213G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala1949Thr	rs1410318253	missense variant	-	NC_000019.10:g.42362384G>A	TOPMed
MEGF8	Q7Z7M0	p.Ala1949Val	rs779553499	missense variant	-	NC_000019.10:g.42362385C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1950Thr	rs1409781298	missense variant	-	NC_000019.10:g.42362387T>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser1950Pro	rs1409781298	missense variant	-	NC_000019.10:g.42362387T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr1951Ile	rs1459691011	missense variant	-	NC_000019.10:g.42362391C>T	TOPMed
MEGF8	Q7Z7M0	p.Pro1952Leu	rs759524232	missense variant	-	NC_000019.10:g.42362394C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1952His	rs759524232	missense variant	-	NC_000019.10:g.42362394C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro1952Arg	rs759524232	missense variant	-	NC_000019.10:g.42362394C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1953AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42362391C>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg1953Gly	rs34475546	missense variant	-	NC_000019.10:g.42362396C>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1953Leu	rs771233244	missense variant	-	NC_000019.10:g.42362397G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1953ProPheSerTerUnk	COSM5106475	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42362390_42362391insC	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg1953Ser	rs34475546	missense variant	-	NC_000019.10:g.42362396C>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1953His	rs771233244	missense variant	-	NC_000019.10:g.42362397G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1953Cys	rs34475546	missense variant	-	NC_000019.10:g.42362396C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys1954Arg	rs774522665	missense variant	-	NC_000019.10:g.42362399T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Lys1955Glu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42362402A>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Trp1956Cys	rs1205847294	missense variant	-	NC_000019.10:g.42362407G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys1957Arg	rs1336322277	missense variant	-	NC_000019.10:g.42362408T>C	TOPMed
MEGF8	Q7Z7M0	p.Cys1957Tyr	rs772158196	missense variant	-	NC_000019.10:g.42362409G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1962Lys	rs1454888198	missense variant	-	NC_000019.10:g.42362423G>A	gnomAD
MEGF8	Q7Z7M0	p.Ile1966Thr	rs1385173325	missense variant	-	NC_000019.10:g.42362436T>C	TOPMed
MEGF8	Q7Z7M0	p.Arg1968Cys	rs1429485512	missense variant	-	NC_000019.10:g.42362441C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1968Ser	rs1429485512	missense variant	-	NC_000019.10:g.42362441C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg1968His	rs762056701	missense variant	-	NC_000019.10:g.42362442G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn1969Asp	rs1399250960	missense variant	-	NC_000019.10:g.42362444A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn1969Ser	rs765659720	missense variant	-	NC_000019.10:g.42362445A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1970Val	rs200684391	missense variant	-	NC_000019.10:g.42362448G>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr1973Ile	rs371840641	missense variant	-	NC_000019.10:g.42362457C>T	ESP,TOPMed
MEGF8	Q7Z7M0	p.Ser1974Tyr	rs1294921248	missense variant	-	NC_000019.10:g.42362460C>A	gnomAD
MEGF8	Q7Z7M0	p.Arg1979Gln	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42362475G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg1983Pro	rs968400094	missense variant	-	NC_000019.10:g.42362487G>C	TOPMed
MEGF8	Q7Z7M0	p.Arg1983Ter	rs756134457	stop gained	-	NC_000019.10:g.42362486C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu1984Asp	rs1354182455	missense variant	-	NC_000019.10:g.42362491G>T	gnomAD
MEGF8	Q7Z7M0	p.Trp1987Arg	rs144057511	missense variant	-	NC_000019.10:g.42362498T>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1988Glu	rs1464021238	missense variant	-	NC_000019.10:g.42362502C>A	TOPMed
MEGF8	Q7Z7M0	p.Glu1993Lys	rs1206428605	missense variant	-	NC_000019.10:g.42362516G>A	TOPMed
MEGF8	Q7Z7M0	p.Ala1994Val	rs1246408795	missense variant	-	NC_000019.10:g.42362520C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala1995Glu	rs374797693	missense variant	-	NC_000019.10:g.42362523C>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala1995Val	rs374797693	missense variant	-	NC_000019.10:g.42362523C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly1997Arg	rs1472106583	missense variant	-	NC_000019.10:g.42362528G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala1999Thr	rs1462549768	missense variant	-	NC_000019.10:g.42362534G>A	gnomAD
MEGF8	Q7Z7M0	p.Cys2001Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42362541G>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Glu2002Gln	rs775608612	missense variant	-	NC_000019.10:g.42362543G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu2002Lys	rs775608612	missense variant	-	NC_000019.10:g.42362543G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln2003Ter	rs1297487496	stop gained	-	NC_000019.10:g.42362546C>T	gnomAD
MEGF8	Q7Z7M0	p.Thr2005Arg	rs760653254	missense variant	-	NC_000019.10:g.42362553C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2005Met	rs760653254	missense variant	-	NC_000019.10:g.42362553C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2006Gln	rs750750960	missense variant	-	NC_000019.10:g.42362556G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2006Trp	rs762333959	missense variant	-	NC_000019.10:g.42362555C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu2007Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.42362558G>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Glu2007Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42362559A>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Glu2007Asp	rs1235208244	missense variant	-	NC_000019.10:g.42362560G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Lys2009SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42362563C>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Lys2009Gln	rs1201099276	missense variant	-	NC_000019.10:g.42362564A>C	gnomAD
MEGF8	Q7Z7M0	p.Met2011Thr	rs759329751	missense variant	-	NC_000019.10:g.42362571T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Met2011Arg	rs759329751	missense variant	-	NC_000019.10:g.42362571T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr2013Met	rs1485671400	missense variant	-	NC_000019.10:g.42362577C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg2014Trp	rs1264350303	missense variant	-	NC_000019.10:g.42362579C>T	gnomAD
MEGF8	Q7Z7M0	p.Thr2019Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42362594A>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Thr2022Ala	RCV000530878	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42363053A>G	ClinVar
MEGF8	Q7Z7M0	p.Thr2022Ala	rs779853780	missense variant	-	NC_000019.10:g.42363053A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2022Pro	rs779853780	missense variant	-	NC_000019.10:g.42363053A>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2023Cys	rs747210470	missense variant	-	NC_000019.10:g.42363056C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2023His	rs1031435305	missense variant	-	NC_000019.10:g.42363057G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2024His	rs1167959292	missense variant	-	NC_000019.10:g.42363060G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg2024Cys	rs755163904	missense variant	-	NC_000019.10:g.42363059C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ile2025Val	rs1176712661	missense variant	-	NC_000019.10:g.42363062A>G	gnomAD
MEGF8	Q7Z7M0	p.Val2028Met	rs1420277864	missense variant	-	NC_000019.10:g.42363071G>A	TOPMed
MEGF8	Q7Z7M0	p.Pro2030Ala	rs1365528958	missense variant	-	NC_000019.10:g.42363077C>G	gnomAD
MEGF8	Q7Z7M0	p.Thr2031Ala	rs770471420	missense variant	-	NC_000019.10:g.42363080A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr2031Asn	rs377486370	missense variant	-	NC_000019.10:g.42363081C>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp2034Cys	COSM6084867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42363091G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Thr2035Met	rs749772025	missense variant	-	NC_000019.10:g.42363093C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser2038Arg	rs369680099	missense variant	-	NC_000019.10:g.42363103C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2040Cys	rs1263198399	missense variant	-	NC_000019.10:g.42363108C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met2047Val	rs1213979956	missense variant	-	NC_000019.10:g.42363128A>G	gnomAD
MEGF8	Q7Z7M0	p.Pro2048Leu	rs1254491176	missense variant	-	NC_000019.10:g.42363132C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro2048Ser	COSM1325228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42363131C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Val2049Met	rs1185731464	missense variant	-	NC_000019.10:g.42363134G>A	gnomAD
MEGF8	Q7Z7M0	p.Glu2050Lys	rs1430269791	missense variant	-	NC_000019.10:g.42363137G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser2051Leu	rs984455722	missense variant	-	NC_000019.10:g.42363141C>T	TOPMed
MEGF8	Q7Z7M0	p.Pro2054Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42363149C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro2056Ser	rs1392437966	missense variant	-	NC_000019.10:g.42363155C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro2060Ala	rs758275007	missense variant	-	NC_000019.10:g.42363167C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu2063Arg	rs766092293	missense variant	-	NC_000019.10:g.42363177T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2065Leu	rs1363040606	missense variant	-	NC_000019.10:g.42363183C>T	gnomAD
MEGF8	Q7Z7M0	p.Asn2066Ser	rs940016728	missense variant	-	NC_000019.10:g.42363186A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn2066Thr	rs940016728	missense variant	-	NC_000019.10:g.42363186A>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn2066His	rs1216867449	missense variant	-	NC_000019.10:g.42363185A>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn2066Tyr	rs1216867449	missense variant	-	NC_000019.10:g.42363185A>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu2071Met	rs202175287	missense variant	-	NC_000019.10:g.42363200C>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2076Val	rs1180106059	missense variant	-	NC_000019.10:g.42363216C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly2079Asp	rs777950047	missense variant	-	NC_000019.10:g.42363225G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln2081Lys	rs985249124	missense variant	-	NC_000019.10:g.42363230C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln2081His	rs1399203080	missense variant	-	NC_000019.10:g.42363232G>T	gnomAD
MEGF8	Q7Z7M0	p.Gln2081Ter	rs985249124	stop gained	-	NC_000019.10:g.42363230C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2084Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42363240T>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Val2084Phe	rs1432015265	missense variant	-	NC_000019.10:g.42363239G>T	TOPMed
MEGF8	Q7Z7M0	p.Ser2086Ile	rs1317861934	missense variant	-	NC_000019.10:g.42363246G>T	gnomAD
MEGF8	Q7Z7M0	p.Gln2090His	rs771398845	missense variant	-	NC_000019.10:g.42363259G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln2090Lys	rs1262769198	missense variant	-	NC_000019.10:g.42363257C>A	gnomAD
MEGF8	Q7Z7M0	p.Gln2091Arg	rs779209679	missense variant	-	NC_000019.10:g.42363261A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu2093Val	rs1181199900	missense variant	-	NC_000019.10:g.42368458C>G	gnomAD
MEGF8	Q7Z7M0	p.Tyr2097His	rs1233480579	missense variant	-	NC_000019.10:g.42368470T>C	gnomAD
MEGF8	Q7Z7M0	p.Leu2098Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42368473C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro2099Ser	rs1471300485	missense variant	-	NC_000019.10:g.42368476C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2099Ser	RCV000678315	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42368476C>T	ClinVar
MEGF8	Q7Z7M0	p.Arg2101Pro	rs888767107	missense variant	-	NC_000019.10:g.42368483G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2101Gly	COSM459948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42368482C>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg2101Gln	rs888767107	missense variant	-	NC_000019.10:g.42368483G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys2102Ser	rs764738722	missense variant	-	NC_000019.10:g.42368486G>C	gnomAD
MEGF8	Q7Z7M0	p.Cys2102Arg	rs747804190	missense variant	-	NC_000019.10:g.42368485T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys2102Tyr	rs764738722	missense variant	-	NC_000019.10:g.42368486G>A	gnomAD
MEGF8	Q7Z7M0	p.Met2103Val	rs368780512	missense variant	-	NC_000019.10:g.42368488A>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2104Thr	rs772768716	missense variant	-	NC_000019.10:g.42368491G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2104Ser	rs772768716	missense variant	-	NC_000019.10:g.42368491G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2105Arg	rs1438305896	missense variant	-	NC_000019.10:g.42368494G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2105Val	COSM321655	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42368495G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly2106Asp	rs1021362118	missense variant	-	NC_000019.10:g.42368498G>A	TOPMed
MEGF8	Q7Z7M0	p.Cys2107Tyr	rs1302205730	missense variant	-	NC_000019.10:g.42368501G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg2109Trp	rs1371529001	missense variant	-	NC_000019.10:g.42368506C>T	gnomAD
MEGF8	Q7Z7M0	p.Leu2110Pro	rs1236212853	missense variant	-	NC_000019.10:g.42368510T>C	gnomAD
MEGF8	Q7Z7M0	p.Leu2111Phe	rs1282840036	missense variant	-	NC_000019.10:g.42368512C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2112Trp	rs770812017	missense variant	-	NC_000019.10:g.42368515C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2112Gln	rs139601509	missense variant	-	NC_000019.10:g.42368516G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2113Arg	rs1439609701	missense variant	-	NC_000019.10:g.42368518G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2113Glu	rs759342849	missense variant	-	NC_000019.10:g.42368519G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser2118Phe	rs752470473	missense variant	-	NC_000019.10:g.42368534C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2120Ala	rs546522308	missense variant	-	NC_000019.10:g.42368540G>C	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2120Ser	rs761041438	missense variant	-	NC_000019.10:g.42368539G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys2121Tyr	rs1421081703	missense variant	-	NC_000019.10:g.42368543G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala2124Thr	rs757392894	missense variant	-	NC_000019.10:g.42368551G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr2125Ala	rs1442591413	missense variant	-	NC_000019.10:g.42368554A>G	gnomAD
MEGF8	Q7Z7M0	p.Gln2126Glu	rs1187404385	missense variant	-	NC_000019.10:g.42368557C>G	TOPMed
MEGF8	Q7Z7M0	p.Ala2128Thr	rs750958421	missense variant	-	NC_000019.10:g.42368563G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2128Ser	rs750958421	missense variant	-	NC_000019.10:g.42368563G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys2130Phe	rs1271846035	missense variant	-	NC_000019.10:g.42368570G>T	gnomAD
MEGF8	Q7Z7M0	p.Arg2132Trp	rs371194840	missense variant	-	NC_000019.10:g.42368575C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2132Gln	rs201140958	missense variant	-	NC_000019.10:g.42368576G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2133His	rs755814245	missense variant	-	NC_000019.10:g.42368579G>A	ExAC,TOPMed
MEGF8	Q7Z7M0	p.Arg2133Cys	rs373739098	missense variant	-	NC_000019.10:g.42368578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His2135Tyr	rs1330177881	missense variant	-	NC_000019.10:g.42368584C>T	TOPMed
MEGF8	Q7Z7M0	p.Gly2137Ser	rs984170779	missense variant	-	NC_000019.10:g.42368590G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp2138Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.42368595G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Trp2138Ter	rs1194587409	stop gained	-	NC_000019.10:g.42368594G>A	gnomAD
MEGF8	Q7Z7M0	p.Cys2139Gly	rs748851480	missense variant	-	NC_000019.10:g.42368596T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Trp2141Cys	rs1163613191	missense variant	-	NC_000019.10:g.42368604G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp2141Leu	rs1474473575	missense variant	-	NC_000019.10:g.42368603G>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2142Trp	rs770495431	missense variant	-	NC_000019.10:g.42368605G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2142Arg	rs770495431	missense variant	-	NC_000019.10:g.42368605G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2142Arg	rs770495431	missense variant	-	NC_000019.10:g.42368605G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2143AlaPheSerTerUnkUnk	COSM1394169	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42368603G>-	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly2143Ser	rs1008199972	missense variant	-	NC_000019.10:g.42368608G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln2144ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42368602_42368603insG	NCI-TCGA
MEGF8	Q7Z7M0	p.Gln2144His	rs1037202811	missense variant	-	NC_000019.10:g.42368613G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln2144Arg	rs1456559203	missense variant	-	NC_000019.10:g.42368612A>G	TOPMed
MEGF8	Q7Z7M0	p.Asp2145Asn	rs760521667	missense variant	-	NC_000019.10:g.42368614G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2147ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42368617G>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly2147Asp	RCV000658841	missense variant	-	NC_000019.10:g.42368621G>A	ClinVar
MEGF8	Q7Z7M0	p.Gly2147Val	rs763943694	missense variant	-	NC_000019.10:g.42368621G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2147Asp	rs763943694	missense variant	-	NC_000019.10:g.42368621G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2148Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42368624G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg2149Cys	rs367975745	missense variant	-	NC_000019.10:g.42368626C>T	ESP,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2149His	rs1292779422	missense variant	-	NC_000019.10:g.42368627G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg2149Leu	rs1292779422	missense variant	-	NC_000019.10:g.42368627G>T	gnomAD
MEGF8	Q7Z7M0	p.Met2151Ile	rs1183714556	missense variant	-	NC_000019.10:g.42368634G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2154Glu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42368642G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly2154Arg	rs777017940	missense variant	-	NC_000019.10:g.42368641G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu2155Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42368645T>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly2157Ser	rs549617171	missense variant	-	NC_000019.10:g.42368650G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2158Ser	rs750465936	missense variant	-	NC_000019.10:g.42368653C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2159Ser	rs201858033	missense variant	-	NC_000019.10:g.42368656C>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2159His	rs751962550	missense variant	-	NC_000019.10:g.42368657G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2159Cys	rs201858033	missense variant	-	NC_000019.10:g.42368656C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2159Gly	rs201858033	missense variant	-	NC_000019.10:g.42368656C>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp2160His	rs755365009	missense variant	-	NC_000019.10:g.42368659G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu2162Met	rs765365135	missense variant	-	NC_000019.10:g.42368845C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2166Cys	rs1460348332	missense variant	-	NC_000019.10:g.42368857C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2166His	rs370984978	missense variant	-	NC_000019.10:g.42368858G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2167Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42368860C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro2167Leu	rs372350131	missense variant	-	NC_000019.10:g.42368861C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2169Thr	rs752081500	missense variant	-	NC_000019.10:g.42368866G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2169Val	rs755820029	missense variant	-	NC_000019.10:g.42368867C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2172Asp	rs1304558393	missense variant	-	NC_000019.10:g.42368876C>A	gnomAD
MEGF8	Q7Z7M0	p.Phe2173Leu	rs2288922	missense variant	-	NC_000019.10:g.42368880C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2178Arg	rs575829700	missense variant	-	NC_000019.10:g.42368894C>G	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2178Ala	rs758007636	missense variant	-	NC_000019.10:g.42368893C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2178Thr	rs758007636	missense variant	-	NC_000019.10:g.42368893C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2178Leu	rs575829700	missense variant	-	NC_000019.10:g.42368894C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2178His	rs575829700	missense variant	-	NC_000019.10:g.42368894C>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2183Ser	rs536792549	missense variant	-	NC_000019.10:g.42368908G>T	1000Genomes,ExAC
MEGF8	Q7Z7M0	p.Gly2185Arg	rs1183931335	missense variant	-	NC_000019.10:g.42368914G>A	TOPMed
MEGF8	Q7Z7M0	p.Asp2188Asn	rs374088709	missense variant	-	NC_000019.10:g.42368923G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn2190Asp	rs760101944	missense variant	-	NC_000019.10:g.42368929A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn2190Lys	rs767893103	missense variant	-	NC_000019.10:g.42368931C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu2191Lys	rs760913754	missense variant	-	NC_000019.10:g.42368932G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu2191Asp	rs764477325	missense variant	-	NC_000019.10:g.42368934G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr2192Met	rs367956687	missense variant	-	NC_000019.10:g.42368936C>T	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn2194Ser	rs779780127	missense variant	-	NC_000019.10:g.42368942A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys2195Tyr	rs1270666990	missense variant	-	NC_000019.10:g.42368945G>A	gnomAD
MEGF8	Q7Z7M0	p.Cys2195Arg	COSM4078766	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42368944T>C	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Asp2197Asn	rs755014441	missense variant	-	NC_000019.10:g.42368950G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2199Arg	rs1248294920	missense variant	-	NC_000019.10:g.42368957C>G	gnomAD
MEGF8	Q7Z7M0	p.Gly2201Cys	rs1185927737	missense variant	-	NC_000019.10:g.42368962G>T	gnomAD
MEGF8	Q7Z7M0	p.Cys2204Tyr	rs1348424828	missense variant	-	NC_000019.10:g.42368972G>A	TOPMed
MEGF8	Q7Z7M0	p.Lys2207Glu	rs1172940657	missense variant	-	NC_000019.10:g.42368980A>G	gnomAD
MEGF8	Q7Z7M0	p.Thr2208Ile	rs374178667	missense variant	-	NC_000019.10:g.42368984C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2209Ser	rs771136518	missense variant	-	NC_000019.10:g.42368986G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Met2212Thr	rs1332338461	missense variant	-	NC_000019.10:g.42368996T>C	TOPMed
MEGF8	Q7Z7M0	p.Met2215Ile	rs765658058	missense variant	-	NC_000019.10:g.42369534G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met2215Ile	rs765658058	missense variant	-	NC_000019.10:g.42369534G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met2215Val	rs762237400	missense variant	-	NC_000019.10:g.42369532A>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Met2215Thr	rs1381383504	missense variant	-	NC_000019.10:g.42369533T>C	gnomAD
MEGF8	Q7Z7M0	p.Gly2217Arg	rs1376370027	missense variant	-	NC_000019.10:g.42369538G>A	TOPMed
MEGF8	Q7Z7M0	p.Arg2220Cys	rs759172296	missense variant	-	NC_000019.10:g.42369547C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2220His	rs370288131	missense variant	-	NC_000019.10:g.42369548G>A	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2224Thr	rs767906925	missense variant	-	NC_000019.10:g.42369559G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2226Asp	rs753669734	missense variant	-	NC_000019.10:g.42369566G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val2228Met	rs757071241	missense variant	-	NC_000019.10:g.42369571G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp2236Asn	rs747093369	missense variant	-	NC_000019.10:g.42369595G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys2238Ter	rs1478668495	stop gained	-	NC_000019.10:g.42369603C>A	gnomAD
MEGF8	Q7Z7M0	p.Cys2238Ser	rs777310098	missense variant	-	NC_000019.10:g.42369602G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2239Cys	RCV000678316	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42369604C>T	ClinVar
MEGF8	Q7Z7M0	p.Arg2239Leu	rs532673964	missense variant	-	NC_000019.10:g.42369605G>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2239Cys	rs1174809027	missense variant	-	NC_000019.10:g.42369604C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg2239His	rs532673964	missense variant	-	NC_000019.10:g.42369605G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys2240Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42369607T>C	NCI-TCGA
MEGF8	Q7Z7M0	p.His2241Tyr	rs985549258	missense variant	-	NC_000019.10:g.42369610C>T	TOPMed
MEGF8	Q7Z7M0	p.Phe2242Leu	rs1486417802	missense variant	-	NC_000019.10:g.42369615T>G	TOPMed
MEGF8	Q7Z7M0	p.Val2245Leu	rs376399763	missense variant	-	NC_000019.10:g.42369622G>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2247His	rs767184727	missense variant	-	NC_000019.10:g.42369629G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2247Cys	rs1438199181	missense variant	-	NC_000019.10:g.42369628C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg2247Pro	rs767184727	missense variant	-	NC_000019.10:g.42369629G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2250Ala	rs1331439867	missense variant	-	NC_000019.10:g.42369637T>G	gnomAD
MEGF8	Q7Z7M0	p.Thr2251Met	rs370225382	missense variant	-	NC_000019.10:g.42369641C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2254Ser	rs750817882	missense variant	-	NC_000019.10:g.42369649C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2254Leu	rs761677916	missense variant	-	NC_000019.10:g.42369650G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2254His	rs761677916	missense variant	-	NC_000019.10:g.42369650G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2254Cys	rs750817882	missense variant	-	NC_000019.10:g.42369649C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys2255Tyr	rs1320315711	missense variant	-	NC_000019.10:g.42369653G>A	gnomAD
MEGF8	Q7Z7M0	p.Cys2255Arg	rs1258739972	missense variant	-	NC_000019.10:g.42369652T>C	gnomAD
MEGF8	Q7Z7M0	p.Arg2257His	rs376007307	missense variant	-	NC_000019.10:g.42369659G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2257Cys	rs988923991	missense variant	-	NC_000019.10:g.42369658C>T	TOPMed
MEGF8	Q7Z7M0	p.Glu2260Ala	rs1293091099	missense variant	-	NC_000019.10:g.42369668A>C	TOPMed
MEGF8	Q7Z7M0	p.Cys2261Tyr	rs1452540189	missense variant	-	NC_000019.10:g.42369671G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala2262Thr	rs780296443	missense variant	-	NC_000019.10:g.42369673G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2266Val	rs368451814	missense variant	-	NC_000019.10:g.42369686C>T	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2267His	rs201847832	missense variant	-	NC_000019.10:g.42369689G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His2269Gln	rs1391255708	missense variant	-	NC_000019.10:g.42369696C>G	gnomAD
MEGF8	Q7Z7M0	p.Cys2270Tyr	COSM3823238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42369698G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Leu2272Pro	rs748672158	missense variant	-	NC_000019.10:g.42369704T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2274Cys	rs770418164	missense variant	-	NC_000019.10:g.42369709C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2274His	rs73554568	missense variant	-	NC_000019.10:g.42369710G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2279Ala	rs752807945	missense variant	-	NC_000019.10:g.42370190G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu2283Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42370201G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Gln2284His	rs1449289672	missense variant	-	NC_000019.10:g.42370206G>C	gnomAD
MEGF8	Q7Z7M0	p.Leu2286Phe	rs370379302	missense variant	-	NC_000019.10:g.42370210C>T	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2287Ser	COSM3892711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370213C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro2287Leu	rs778308144	missense variant	-	NC_000019.10:g.42370214C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2292Leu	rs1425230368	missense variant	-	NC_000019.10:g.42370229C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala2293Ser	rs1179202451	missense variant	-	NC_000019.10:g.42370231G>T	gnomAD
MEGF8	Q7Z7M0	p.Gly2295Glu	rs1451297110	missense variant	-	NC_000019.10:g.42370238G>A	TOPMed
MEGF8	Q7Z7M0	p.Gly2295Arg	rs1430283740	missense variant	-	NC_000019.10:g.42370237G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2297Glu	rs768286057	missense variant	-	NC_000019.10:g.42370244G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2297Arg	rs1160168661	missense variant	-	NC_000019.10:g.42370243G>A	gnomAD
MEGF8	Q7Z7M0	p.Thr2298Pro	rs776168721	missense variant	-	NC_000019.10:g.42370246A>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2300Trp	rs563329836	missense variant	-	NC_000019.10:g.42370252C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2300Gln	rs769253504	missense variant	-	NC_000019.10:g.42370253G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2300Leu	COSM6150866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370253G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro2301Ser	rs530864821	missense variant	-	NC_000019.10:g.42370255C>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2304Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42370264G>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala2304Asp	rs528281178	missense variant	-	NC_000019.10:g.42370265C>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2304Thr	rs185811990	missense variant	-	NC_000019.10:g.42370264G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Phe2305Leu	rs1483941905	missense variant	-	NC_000019.10:g.42370267T>C	gnomAD
MEGF8	Q7Z7M0	p.Arg2307Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42370273C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Arg2307His	rs142506261	missense variant	-	NC_000019.10:g.42370274G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2307Pro	rs142506261	missense variant	-	NC_000019.10:g.42370274G>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2307Leu	rs142506261	missense variant	-	NC_000019.10:g.42370274G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2307Cys	COSM3692822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370273C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly2308Glu	rs1237193633	missense variant	-	NC_000019.10:g.42370277G>A	gnomAD
MEGF8	Q7Z7M0	p.His2311Tyr	rs150940603	missense variant	-	NC_000019.10:g.42370285C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ile2312Val	rs142042363	missense variant	-	NC_000019.10:g.42370288A>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys2313Ter	rs1002396731	stop gained	-	NC_000019.10:g.42370293C>A	TOPMed
MEGF8	Q7Z7M0	p.Ile2314Thr	rs754382502	missense variant	-	NC_000019.10:g.42370295T>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ser2315Tyr	rs757636417	missense variant	-	NC_000019.10:g.42370298C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2316Lys	rs373842617	missense variant	-	NC_000019.10:g.42370301G>A	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Lys2317Met	rs1467644289	missense variant	-	NC_000019.10:g.42370304A>T	gnomAD
MEGF8	Q7Z7M0	p.Ser2322Phe	rs1399867711	missense variant	-	NC_000019.10:g.42370319C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly2324Glu	rs377068929	missense variant	-	NC_000019.10:g.42370325G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu2325Asp	rs370364807	missense variant	-	NC_000019.10:g.42370329G>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu2325Lys	COSM997423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370327G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Glu2325Asp	rs370364807	missense variant	-	NC_000019.10:g.42370329G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2330Pro	rs1386766514	missense variant	-	NC_000019.10:g.42370342T>C	gnomAD
MEGF8	Q7Z7M0	p.Asp2332Asn	rs1302584295	missense variant	-	NC_000019.10:g.42370348G>A	gnomAD
MEGF8	Q7Z7M0	p.Glu2335Asp	COSM5174036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42370359G>C	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ile2336Met	rs765632405	missense variant	-	NC_000019.10:g.42370703T>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu2337Gln	rs1195856343	missense variant	-	NC_000019.10:g.42370704G>C	gnomAD
MEGF8	Q7Z7M0	p.Asn2338Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42370708A>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Asn2338Ser	rs1411920397	missense variant	-	NC_000019.10:g.42370708A>G	gnomAD
MEGF8	Q7Z7M0	p.Asn2338Lys	rs537788689	missense variant	-	NC_000019.10:g.42370709C>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp2339Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42370710T>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Trp2339Arg	rs1165960887	missense variant	-	NC_000019.10:g.42370710T>C	gnomAD
MEGF8	Q7Z7M0	p.Val2340Ala	rs1260167899	missense variant	-	NC_000019.10:g.42370714T>C	TOPMed
MEGF8	Q7Z7M0	p.Val2340Met	rs367851164	missense variant	-	NC_000019.10:g.42370713G>A	ESP,gnomAD
MEGF8	Q7Z7M0	p.Val2340Leu	rs367851164	missense variant	-	NC_000019.10:g.42370713G>T	ESP,gnomAD
MEGF8	Q7Z7M0	p.Thr2341Lys	rs1418457844	missense variant	-	NC_000019.10:g.42370717C>A	gnomAD
MEGF8	Q7Z7M0	p.Thr2341Ile	rs1418457844	missense variant	-	NC_000019.10:g.42370717C>T	gnomAD
MEGF8	Q7Z7M0	p.Glu2342Gln	rs1298106714	missense variant	-	NC_000019.10:g.42370719G>C	gnomAD
MEGF8	Q7Z7M0	p.Pro2344Arg	rs1290840696	missense variant	-	NC_000019.10:g.42370726C>G	gnomAD
MEGF8	Q7Z7M0	p.Pro2344Ala	rs1401312523	missense variant	-	NC_000019.10:g.42370725C>G	gnomAD
MEGF8	Q7Z7M0	p.Ser2345Asn	rs1378032072	missense variant	-	NC_000019.10:g.42370729G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser2345Gly	rs1016429941	missense variant	-	NC_000019.10:g.42370728A>G	TOPMed
MEGF8	Q7Z7M0	p.Glu2346Lys	rs1314672093	missense variant	-	NC_000019.10:g.42370731G>A	gnomAD
MEGF8	Q7Z7M0	p.Glu2346Asp	rs1314898378	missense variant	-	NC_000019.10:g.42370733A>T	gnomAD
MEGF8	Q7Z7M0	p.Glu2348Lys	rs147708727	missense variant	-	NC_000019.10:g.42370737G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2349Gly	rs747807960	missense variant	-	NC_000019.10:g.42370741C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2349Thr	rs1470564735	missense variant	-	NC_000019.10:g.42370740G>A	gnomAD
MEGF8	Q7Z7M0	p.Val2350Met	rs73033442	missense variant	-	NC_000019.10:g.42370743G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2352Met	RCV000534125	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42370749G>A	ClinVar
MEGF8	Q7Z7M0	p.Val2352Met	rs112167630	missense variant	-	NC_000019.10:g.42370749G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys2354Tyr	rs1438216876	missense variant	-	NC_000019.10:g.42370756G>A	gnomAD
MEGF8	Q7Z7M0	p.Gln2355His	rs1293234412	missense variant	-	NC_000019.10:g.42370760G>T	TOPMed
MEGF8	Q7Z7M0	p.Gln2355Glu	rs745748127	missense variant	-	NC_000019.10:g.42370758C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Tyr2359Cys	rs143643113	missense variant	-	NC_000019.10:g.42370771A>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu2364Gly	rs1239177939	missense variant	-	NC_000019.10:g.42370786A>G	gnomAD
MEGF8	Q7Z7M0	p.Glu2364Lys	rs1370643779	missense variant	-	NC_000019.10:g.42370785G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu2367Gln	rs1231948998	missense variant	-	NC_000019.10:g.42370795T>A	gnomAD
MEGF8	Q7Z7M0	p.Gln2368Pro	rs1239176672	missense variant	-	NC_000019.10:g.42370798A>C	gnomAD
MEGF8	Q7Z7M0	p.Tyr2370Ser	rs1279456511	missense variant	-	NC_000019.10:g.42370804A>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp2374Glu	rs765312333	missense variant	-	NC_000019.10:g.42370817C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2375Arg	rs1178433906	missense variant	-	NC_000019.10:g.42370818G>A	gnomAD
MEGF8	Q7Z7M0	p.Thr2378Ala	rs1198259417	missense variant	-	NC_000019.10:g.42370827A>G	TOPMed
MEGF8	Q7Z7M0	p.Thr2378Asn	rs1239139047	missense variant	-	NC_000019.10:g.42370828C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asn2383Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42371361A>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly2384Val	rs1477205635	missense variant	-	NC_000019.10:g.42371364G>T	gnomAD
MEGF8	Q7Z7M0	p.Ala2386Thr	rs1425341413	missense variant	-	NC_000019.10:g.42371369G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2386Val	rs372558876	missense variant	-	NC_000019.10:g.42371370C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp2387Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42371372G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Thr2388Ile	rs1194659954	missense variant	-	NC_000019.10:g.42371376C>T	TOPMed
MEGF8	Q7Z7M0	p.Cys2389Tyr	rs1490205807	missense variant	-	NC_000019.10:g.42371379G>A	TOPMed
MEGF8	Q7Z7M0	p.Cys2389Arg	rs1391143394	missense variant	-	NC_000019.10:g.42371378T>C	gnomAD
MEGF8	Q7Z7M0	p.Glu2391Lys	rs750058084	missense variant	-	NC_000019.10:g.42371384G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln2392Leu	COSM6150863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42371388A>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gln2392Pro	rs1225341191	missense variant	-	NC_000019.10:g.42371388A>C	TOPMed
MEGF8	Q7Z7M0	p.Thr2395Met	rs758007485	missense variant	-	NC_000019.10:g.42371397C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys2397Tyr	rs765931068	missense variant	-	NC_000019.10:g.42371403G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Thr2403Ile	rs1242846195	missense variant	-	NC_000019.10:g.42371421C>T	gnomAD
MEGF8	Q7Z7M0	p.Thr2405Met	rs142829766	missense variant	-	NC_000019.10:g.42371427C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2406Ala	rs1284505796	missense variant	-	NC_000019.10:g.42371430G>C	gnomAD
MEGF8	Q7Z7M0	p.Gly2406Arg	rs1248883343	missense variant	-	NC_000019.10:g.42371429G>C	gnomAD
MEGF8	Q7Z7M0	p.Ser2411Gly	rs1216731800	missense variant	-	NC_000019.10:g.42371444A>G	gnomAD
MEGF8	Q7Z7M0	p.Ser2412Thr	rs1264655814	missense variant	-	NC_000019.10:g.42371447T>A	gnomAD
MEGF8	Q7Z7M0	p.Pro2413Leu	rs1440375672	missense variant	-	NC_000019.10:g.42371451C>T	gnomAD
MEGF8	Q7Z7M0	p.Asp2415Asn	COSM4851832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42371456G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Arg2416Leu	rs756370726	missense variant	-	NC_000019.10:g.42371460G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2416Cys	rs747955335	missense variant	-	NC_000019.10:g.42371459C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2416His	rs756370726	missense variant	-	NC_000019.10:g.42371460G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2417Gln	rs777998313	missense variant	-	NC_000019.10:g.42371463G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2417Ter	COSM1481145	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42371462C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Asp2418His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42371465G>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Tyr2420Ter	rs1218937263	stop gained	-	NC_000019.10:g.42371473C>G	TOPMed
MEGF8	Q7Z7M0	p.Tyr2420His	rs1379641519	missense variant	-	NC_000019.10:g.42371471T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln2423Arg	COSM3534788	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42371481A>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Cys2424Arg	rs1231919315	missense variant	-	NC_000019.10:g.42375507T>C	gnomAD
MEGF8	Q7Z7M0	p.Cys2424Trp	rs113822011	missense variant	-	NC_000019.10:g.42375509C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2425Thr	rs146094970	missense variant	-	NC_000019.10:g.42375510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2428Gln	rs1458040146	missense variant	-	NC_000019.10:g.42375520G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg2428Trp	rs1257255407	missense variant	-	NC_000019.10:g.42375519C>T	gnomAD
MEGF8	Q7Z7M0	p.His2432Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42375531C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly2433Arg	rs1297965523	missense variant	-	NC_000019.10:g.42375534G>A	TOPMed
MEGF8	Q7Z7M0	p.Ser2434Gly	RCV000033073	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375537A>G	ClinVar
MEGF8	Q7Z7M0	p.Ser2434Gly	rs397515428	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375537A>G	UniProt,dbSNP
MEGF8	Q7Z7M0	p.Ser2434Gly	VAR_069307	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375537A>G	UniProt
MEGF8	Q7Z7M0	p.Ser2434Gly	rs397515428	missense variant	-	NC_000019.10:g.42375537A>G	-
MEGF8	Q7Z7M0	p.Pro2435Leu	rs769146702	missense variant	-	NC_000019.10:g.42375541C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu2436Met	rs1198291243	missense variant	-	NC_000019.10:g.42375543C>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2437Ser	rs1471107514	missense variant	-	NC_000019.10:g.42375546G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2438Ser	rs773776672	missense variant	-	NC_000019.10:g.42375549G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln2439Arg	rs1458314829	missense variant	-	NC_000019.10:g.42375553A>G	TOPMed
MEGF8	Q7Z7M0	p.Cys2441Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42375558T>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Tyr2442Phe	rs759121016	missense variant	-	NC_000019.10:g.42375562A>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2443Cys	rs766886630	missense variant	-	NC_000019.10:g.42375564C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu2444Pro	rs1301416363	missense variant	-	NC_000019.10:g.42375568T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ile2445Met	rs373259008	missense variant	-	NC_000019.10:g.42375572C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2446Leu	rs1216480538	missense variant	-	NC_000019.10:g.42375574C>T	gnomAD
MEGF8	Q7Z7M0	p.Val2447Leu	rs760535193	missense variant	-	NC_000019.10:g.42375576G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln2449Ter	rs1263417740	stop gained	-	NC_000019.10:g.42375582C>T	gnomAD
MEGF8	Q7Z7M0	p.Glu2450Gln	rs1224188811	missense variant	-	NC_000019.10:g.42375585G>C	gnomAD
MEGF8	Q7Z7M0	p.Cys2452Tyr	rs763940342	missense variant	-	NC_000019.10:g.42375592G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2455Ser	rs753615923	missense variant	-	NC_000019.10:g.42375600C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2455Leu	rs1282806420	missense variant	-	NC_000019.10:g.42375601C>T	gnomAD
MEGF8	Q7Z7M0	p.Thr2456Met	rs757470081	missense variant	-	NC_000019.10:g.42375604C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2456Lys	rs757470081	missense variant	-	NC_000019.10:g.42375604C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2459Ile	rs758520252	missense variant	-	NC_000019.10:g.42375613C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn2460Ser	rs779934071	missense variant	-	NC_000019.10:g.42375616A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn2460Tyr	rs1457891573	missense variant	-	NC_000019.10:g.42375615A>T	gnomAD
MEGF8	Q7Z7M0	p.Arg2467His	RCV000558733	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375637G>A	ClinVar
MEGF8	Q7Z7M0	p.Arg2467Leu	rs757739507	missense variant	-	NC_000019.10:g.42375637G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2467His	rs757739507	missense variant	-	NC_000019.10:g.42375637G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2467Cys	rs769273382	missense variant	-	NC_000019.10:g.42375636C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2468Trp	rs949896957	missense variant	-	NC_000019.10:g.42375639C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg2468Gln	rs774072433	missense variant	-	NC_000019.10:g.42375640G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2469Val	rs759050174	missense variant	-	NC_000019.10:g.42375643C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2471Ser	rs558569357	missense variant	-	NC_000019.10:g.42375648G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2473Ser	rs763997439	missense variant	-	NC_000019.10:g.42375654G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2474His	RCV000537054	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375658G>A	ClinVar
MEGF8	Q7Z7M0	p.Arg2474Leu	rs45623135	missense variant	-	NC_000019.10:g.42375658G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2474Cys	rs753671779	missense variant	-	NC_000019.10:g.42375657C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2474His	rs45623135	missense variant	-	NC_000019.10:g.42375658G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2475Ala	rs1370990678	missense variant	-	NC_000019.10:g.42375660A>G	TOPMed
MEGF8	Q7Z7M0	p.Leu2477Phe	rs1216649356	missense variant	-	NC_000019.10:g.42375666C>T	TOPMed
MEGF8	Q7Z7M0	p.Leu2477Pro	rs764884283	missense variant	-	NC_000019.10:g.42375667T>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2479Ser	rs1387663472	missense variant	-	NC_000019.10:g.42375672G>A	gnomAD
MEGF8	Q7Z7M0	p.Val2480Leu	rs766625279	missense variant	-	NC_000019.10:g.42375675G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2480Met	rs766625279	missense variant	-	NC_000019.10:g.42375675G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2487Met	COSM4078769	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42375696G>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ile2489Val	rs755585384	missense variant	-	NC_000019.10:g.42375702A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ile2489Met	rs781773462	missense variant	-	NC_000019.10:g.42375704C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2490Cys	rs368024107	missense variant	-	NC_000019.10:g.42375705C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2490Leu	rs756510671	missense variant	-	NC_000019.10:g.42375706G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2490His	rs756510671	missense variant	-	NC_000019.10:g.42375706G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2492Pro	rs1209187631	missense variant	-	NC_000019.10:g.42375711A>C	TOPMed
MEGF8	Q7Z7M0	p.Thr2492Met	rs745598545	missense variant	-	NC_000019.10:g.42375712C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2495Met	rs376078071	missense variant	-	NC_000019.10:g.42375720G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2498Arg	rs554506062	missense variant	-	NC_000019.10:g.42375729G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2499Ser	rs1158561358	missense variant	-	NC_000019.10:g.42375732G>T	gnomAD
MEGF8	Q7Z7M0	p.Val2500Leu	rs1405711225	missense variant	-	NC_000019.10:g.42375735G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Tyr2503Phe	rs1394132563	missense variant	-	NC_000019.10:g.42375745A>T	TOPMed
MEGF8	Q7Z7M0	p.Val2504Ile	rs772871276	missense variant	-	NC_000019.10:g.42375747G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Tyr2508Cys	rs763286751	missense variant	-	NC_000019.10:g.42375760A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp2509Gly	rs1358249219	missense variant	-	NC_000019.10:g.42375763A>G	gnomAD
MEGF8	Q7Z7M0	p.Asp2509Val	rs1358249219	missense variant	-	NC_000019.10:g.42375763A>T	gnomAD
MEGF8	Q7Z7M0	p.Thr2510Asn	rs1453120838	missense variant	-	NC_000019.10:g.42375766C>A	TOPMed
MEGF8	Q7Z7M0	p.Val2512Leu	rs150782421	missense variant	-	NC_000019.10:g.42375771G>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2512Met	rs150782421	missense variant	-	NC_000019.10:g.42375771G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2514His	rs369692848	missense variant	-	NC_000019.10:g.42375778G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2514Leu	rs369692848	missense variant	-	NC_000019.10:g.42375778G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2514Cys	rs753248304	missense variant	-	NC_000019.10:g.42375777C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val2515Ala	rs1276546861	missense variant	-	NC_000019.10:g.42375781T>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2516Thr	rs1311873941	missense variant	-	NC_000019.10:g.42375783G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala2516Val	rs1444557476	missense variant	-	NC_000019.10:g.42375784C>T	TOPMed
MEGF8	Q7Z7M0	p.Pro2517Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42375787C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro2517Thr	COSM4078775	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42375786C>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro2517Ala	rs1225574443	missense variant	-	NC_000019.10:g.42375786C>G	gnomAD
MEGF8	Q7Z7M0	p.Asp2518Glu	rs749592583	missense variant	-	NC_000019.10:g.42375791C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp2518Asn	rs1257792647	missense variant	-	NC_000019.10:g.42375789G>A	TOPMed
MEGF8	Q7Z7M0	p.Gly2520Asp	rs758084935	missense variant	-	NC_000019.10:g.42375796G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val2521Ile	rs746615045	missense variant	-	NC_000019.10:g.42375798G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His2522Gln	rs1265651059	missense variant	-	NC_000019.10:g.42375803T>A	TOPMed
MEGF8	Q7Z7M0	p.Thr2523Ala	rs139192223	missense variant	-	NC_000019.10:g.42375804A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His2525Leu	rs377601737	missense variant	-	NC_000019.10:g.42375811A>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His2525Tyr	rs531863035	missense variant	-	NC_000019.10:g.42375810C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ile2526Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42375815C>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Ile2526Leu	rs1239149569	missense variant	-	NC_000019.10:g.42375813A>C	gnomAD
MEGF8	Q7Z7M0	p.Pro2528Ser	rs1480590883	missense variant	-	NC_000019.10:g.42375819C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2529Arg	rs962664078	missense variant	-	NC_000019.10:g.42375823C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2529His	rs962664078	missense variant	-	NC_000019.10:g.42375823C>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2530SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42375823_42375824insAT	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro2530Leu	rs769598183	missense variant	-	NC_000019.10:g.42375826C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2531Val	rs773102301	missense variant	-	NC_000019.10:g.42375829C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2531Asp	rs773102301	missense variant	-	NC_000019.10:g.42375829C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2531Thr	rs1356244677	missense variant	-	NC_000019.10:g.42375828G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala2531Ser	rs1356244677	missense variant	-	NC_000019.10:g.42375828G>T	gnomAD
MEGF8	Q7Z7M0	p.Pro2532Arg	rs1344952308	missense variant	-	NC_000019.10:g.42375832C>G	gnomAD
MEGF8	Q7Z7M0	p.Pro2534Leu	rs1224426841	missense variant	-	NC_000019.10:g.42375838C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro2534Arg	rs1224426841	missense variant	-	NC_000019.10:g.42375838C>G	gnomAD
MEGF8	Q7Z7M0	p.Pro2535Ala	rs149965041	missense variant	-	NC_000019.10:g.42375840C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2537Leu	rs774730847	missense variant	-	NC_000019.10:g.42375847C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2537Thr	rs766231753	missense variant	-	NC_000019.10:g.42375846C>A	ExAC
MEGF8	Q7Z7M0	p.Pro2538Leu	rs767768711	missense variant	-	NC_000019.10:g.42375850C>T	ExAC
MEGF8	Q7Z7M0	p.Pro2538Thr	rs759761956	missense variant	-	NC_000019.10:g.42375849C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2538Ser	rs759761956	missense variant	-	NC_000019.10:g.42375849C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2539Thr	rs1394382913	missense variant	-	NC_000019.10:g.42375852G>A	TOPMed
MEGF8	Q7Z7M0	p.Asp2540Asn	rs1440102102	missense variant	-	NC_000019.10:g.42375855G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp2540Gly	rs1162016775	missense variant	-	NC_000019.10:g.42375856A>G	TOPMed
MEGF8	Q7Z7M0	p.Gly2541Arg	rs543549761	missense variant	-	NC_000019.10:g.42375858G>C	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2542Glu	rs1480479780	missense variant	-	NC_000019.10:g.42375862G>A	gnomAD
MEGF8	Q7Z7M0	p.Pro2543His	rs1421045014	missense variant	-	NC_000019.10:g.42375865C>A	gnomAD
MEGF8	Q7Z7M0	p.Arg2544Gln	rs754329335	missense variant	-	NC_000019.10:g.42375868G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2544Gly	rs565321934	missense variant	-	NC_000019.10:g.42375867C>G	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2544Gln	RCV000547529	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375868G>A	ClinVar
MEGF8	Q7Z7M0	p.Arg2544Trp	rs565321934	missense variant	-	NC_000019.10:g.42375867C>T	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2545Trp	rs1168327264	missense variant	-	NC_000019.10:g.42375870G>T	gnomAD
MEGF8	Q7Z7M0	p.Ala2546GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42375867_42375868insG	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala2546LeuPheSerTerUnkUnk	COSM4614185	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.42375868G>-	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala2546Ser	rs757641182	missense variant	-	NC_000019.10:g.42375873G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2547Arg	rs1322808398	missense variant	-	NC_000019.10:g.42375876G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2547Ala	rs779190529	missense variant	-	NC_000019.10:g.42375877G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2549Leu	rs751281247	missense variant	-	NC_000019.10:g.42375883C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2549Ser	rs1405644043	missense variant	-	NC_000019.10:g.42375882C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly2550Glu	rs754611814	missense variant	-	NC_000019.10:g.42375886G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2551Arg	rs576074108	missense variant	-	NC_000019.10:g.42375888G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2552Gly	rs747582206	missense variant	-	NC_000019.10:g.42375892C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2555Asn	rs769310948	missense variant	-	NC_000019.10:g.42375901G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2555Ile	rs769310948	missense variant	-	NC_000019.10:g.42375901G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2555Arg	rs532380579	missense variant	-	NC_000019.10:g.42375902C>G	1000Genomes,gnomAD
MEGF8	Q7Z7M0	p.Gly2557Glu	rs749183655	missense variant	-	NC_000019.10:g.42375907G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2558Leu	RCV000224648	missense variant	-	NC_000019.10:g.42375910C>T	ClinVar
MEGF8	Q7Z7M0	p.Pro2558Leu	rs147216997	missense variant	-	NC_000019.10:g.42375910C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2558Leu	RCV000650615	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375910C>T	ClinVar
MEGF8	Q7Z7M0	p.Gly2559Asp	rs1193443700	missense variant	-	NC_000019.10:g.42375913G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala2560Thr	rs772398020	missense variant	-	NC_000019.10:g.42375915G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2561Arg	rs775678472	missense variant	-	NC_000019.10:g.42375919C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2561Ser	rs748884146	missense variant	-	NC_000019.10:g.42375918C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala2562Val	rs1426437474	missense variant	-	NC_000019.10:g.42375922C>T	gnomAD
MEGF8	Q7Z7M0	p.Arg2565Gln	rs764185083	missense variant	-	NC_000019.10:g.42375931G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2565Trp	rs760698976	missense variant	-	NC_000019.10:g.42375930C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2566Ile	rs754313677	missense variant	-	NC_000019.10:g.42375933G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val2566Leu	rs754313677	missense variant	-	NC_000019.10:g.42375933G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2567Trp	rs762303782	missense variant	-	NC_000019.10:g.42375936C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2567Gln	rs565653220	missense variant	-	NC_000019.10:g.42375937G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val2569Ile	RCV000525831	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42375942G>A	ClinVar
MEGF8	Q7Z7M0	p.Val2569Leu	rs147133204	missense variant	-	NC_000019.10:g.42375942G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2569Ile	rs147133204	missense variant	-	NC_000019.10:g.42375942G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp2570Arg	rs1314746538	missense variant	-	NC_000019.10:g.42375945T>A	gnomAD
MEGF8	Q7Z7M0	p.Pro2571Leu	rs754666792	missense variant	-	NC_000019.10:g.42375949C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2571Arg	rs754666792	missense variant	-	NC_000019.10:g.42375949C>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2572Gln	rs755596877	missense variant	-	NC_000019.10:g.42375952G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2572Trp	rs374292471	missense variant	-	NC_000019.10:g.42375951C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ile2575Thr	rs368743788	missense variant	-	NC_000019.10:g.42375961T>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2578Met	rs778897649	missense variant	-	NC_000019.10:g.42375969G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2579Met	rs745623883	missense variant	-	NC_000019.10:g.42375973C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2580Leu	rs1196140982	missense variant	-	NC_000019.10:g.42375975G>C	TOPMed
MEGF8	Q7Z7M0	p.Thr2581Met	rs760894129	missense variant	-	NC_000019.10:g.42375979C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2583Leu	rs1453158410	missense variant	-	NC_000019.10:g.42375985C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2584Leu	rs372348183	missense variant	-	NC_000019.10:g.42375988C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2588Met	rs147796963	missense variant	-	NC_000019.10:g.42375999G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2590His	rs765704447	missense variant	-	NC_000019.10:g.42376006G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2590Cys	rs1455119271	missense variant	-	NC_000019.10:g.42376005C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2591Ser	rs1239167049	missense variant	-	NC_000019.10:g.42376008G>A	gnomAD
MEGF8	Q7Z7M0	p.Val2592Leu	rs148860986	missense variant	-	NC_000019.10:g.42376011G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2592Met	RCV000767081	missense variant	-	NC_000019.10:g.42376011G>A	ClinVar
MEGF8	Q7Z7M0	p.Val2592Met	RCV000203030	missense variant	-	NC_000019.10:g.42376011G>A	ClinVar
MEGF8	Q7Z7M0	p.Val2592Met	rs148860986	missense variant	-	NC_000019.10:g.42376011G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2593Trp	rs367639760	missense variant	-	NC_000019.10:g.42376014C>T	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2593Gln	rs371459258	missense variant	-	NC_000019.10:g.42376015G>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp2594Asn	rs1462489366	missense variant	-	NC_000019.10:g.42376017G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2595Trp	rs1249758482	missense variant	-	NC_000019.10:g.42376020C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2595Gln	rs986834447	missense variant	-	NC_000019.10:g.42376021G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu2596Met	rs140517402	missense variant	-	NC_000019.10:g.42376023C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2597Gly	rs745748581	missense variant	-	NC_000019.10:g.42376027T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val2597Ile	rs779024048	missense variant	-	NC_000019.10:g.42376026G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ile2598Leu	rs758141124	missense variant	-	NC_000019.10:g.42376029A>C	ExAC
MEGF8	Q7Z7M0	p.Thr2599Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376032A>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Tyr2600Asn	rs1471169202	missense variant	-	NC_000019.10:g.42376035T>A	gnomAD
MEGF8	Q7Z7M0	p.His2602Gln	rs369259843	missense variant	-	NC_000019.10:g.42376043C>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His2602Arg	rs942803330	missense variant	-	NC_000019.10:g.42376042A>G	TOPMed
MEGF8	Q7Z7M0	p.His2602Gln	rs369259843	missense variant	-	NC_000019.10:g.42376043C>A	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu2603Asp	rs768902189	missense variant	-	NC_000019.10:g.42376046G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Glu2603Lys	rs1396451878	missense variant	-	NC_000019.10:g.42376044G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His2604Arg	rs552972983	missense variant	-	NC_000019.10:g.42376048A>G	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2606Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376054C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Ser2609Leu	rs748260455	missense variant	-	NC_000019.10:g.42376063C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2609Trp	COSM4852129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376063C>G	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ser2610Thr	rs769818172	missense variant	-	NC_000019.10:g.42376066G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2611Cys	rs773724721	missense variant	-	NC_000019.10:g.42376068C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2611His	rs763453691	missense variant	-	NC_000019.10:g.42376069G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Tyr2613Phe	rs766724451	missense variant	-	NC_000019.10:g.42376075A>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2618Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376089G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Val2619Leu	rs772954605	missense variant	-	NC_000019.10:g.42376092G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2619Leu	rs772954605	missense variant	-	NC_000019.10:g.42376092G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Val2619Met	rs772954605	missense variant	-	NC_000019.10:g.42376092G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2620Glu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376096G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Gly2620Arg	rs1227051412	missense variant	-	NC_000019.10:g.42376095G>A	TOPMed
MEGF8	Q7Z7M0	p.Asp2621Gly	rs140588377	missense variant	-	NC_000019.10:g.42376099A>G	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp2621Ala	rs140588377	missense variant	-	NC_000019.10:g.42376099A>C	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2622Ala	rs1198714245	missense variant	-	NC_000019.10:g.42376101C>G	gnomAD
MEGF8	Q7Z7M0	p.Pro2622Arg	rs1430273963	missense variant	-	NC_000019.10:g.42376102C>G	gnomAD
MEGF8	Q7Z7M0	p.Pro2622Leu	rs1430273963	missense variant	-	NC_000019.10:g.42376102C>T	gnomAD
MEGF8	Q7Z7M0	p.Ser2623Asn	rs753498301	missense variant	-	NC_000019.10:g.42376105G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2624Val	rs756847499	missense variant	-	NC_000019.10:g.42376108G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2624Ala	rs756847499	missense variant	-	NC_000019.10:g.42376108G>C	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2626Ser	rs200506642	missense variant	-	NC_000019.10:g.42376113G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2627Val	rs746788380	missense variant	-	NC_000019.10:g.42376117C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2627Thr	rs779762562	missense variant	-	NC_000019.10:g.42376116G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asn2628Asp	rs1303183639	missense variant	-	NC_000019.10:g.42376119A>G	gnomAD
MEGF8	Q7Z7M0	p.Gly2629Ser	rs543957344	missense variant	-	NC_000019.10:g.42376122G>A	1000Genomes,TOPMed
MEGF8	Q7Z7M0	p.Ser2630Pro	rs1216385147	missense variant	-	NC_000019.10:g.42376125T>C	gnomAD
MEGF8	Q7Z7M0	p.Ala2631Thr	rs1283451397	missense variant	-	NC_000019.10:g.42376128G>A	gnomAD
MEGF8	Q7Z7M0	p.Asp2632Asn	rs748313683	missense variant	-	NC_000019.10:g.42376131G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gln2634Pro	rs1263630268	missense variant	-	NC_000019.10:g.42376138A>C	gnomAD
MEGF8	Q7Z7M0	p.Arg2640Gln	rs771443838	missense variant	-	NC_000019.10:g.42376156G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2640Trp	rs1269660319	missense variant	-	NC_000019.10:g.42376155C>T	gnomAD
MEGF8	Q7Z7M0	p.Gln2641Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376159A>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Gln2641Lys	rs375577811	missense variant	-	NC_000019.10:g.42376158C>A	ESP,TOPMed
MEGF8	Q7Z7M0	p.Ala2644Pro	rs1184993084	missense variant	-	NC_000019.10:g.42376167G>C	gnomAD
MEGF8	Q7Z7M0	p.Leu2648Gln	rs1429495113	missense variant	-	NC_000019.10:g.42376180T>A	gnomAD
MEGF8	Q7Z7M0	p.Val2650Ala	rs1172925447	missense variant	-	NC_000019.10:g.42376186T>C	gnomAD
MEGF8	Q7Z7M0	p.Val2654Ile	rs373377277	missense variant	-	NC_000019.10:g.42376197G>A	ESP,TOPMed
MEGF8	Q7Z7M0	p.Phe2655Cys	rs1163716739	missense variant	-	NC_000019.10:g.42376201T>G	gnomAD
MEGF8	Q7Z7M0	p.Cys2658Gly	rs772514096	missense variant	-	NC_000019.10:g.42376209T>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys2658Phe	rs776435405	missense variant	-	NC_000019.10:g.42376210G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Leu2663Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376224C>G	NCI-TCGA
MEGF8	Q7Z7M0	p.Ser2664ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.42376227_42376248TCACTCTGTGTGCTCCTCTGGA>-	NCI-TCGA
MEGF8	Q7Z7M0	p.Ser2664Pro	rs1310263470	missense variant	-	NC_000019.10:g.42376227T>C	gnomAD
MEGF8	Q7Z7M0	p.Ser2664Leu	rs761489341	missense variant	-	NC_000019.10:g.42376228C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Cys2666Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376233T>C	NCI-TCGA
MEGF8	Q7Z7M0	p.Cys2666Phe	rs749927655	missense variant	-	NC_000019.10:g.42376234G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Val2667Met	rs1228072440	missense variant	-	NC_000019.10:g.42376236G>A	TOPMed
MEGF8	Q7Z7M0	p.Leu2669Phe	rs762839723	missense variant	-	NC_000019.10:g.42376242C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Trp2670Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.42376246G>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Trp2670Arg	COSM5150234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376245T>C	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Lys2671Arg	rs1260384829	missense variant	-	NC_000019.10:g.42376249A>G	gnomAD
MEGF8	Q7Z7M0	p.Ala2672Ser	rs766373206	missense variant	-	NC_000019.10:g.42376251G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2672Val	rs1188695827	missense variant	-	NC_000019.10:g.42376252C>T	gnomAD
MEGF8	Q7Z7M0	p.Asp2677Glu	rs780901983	missense variant	-	NC_000019.10:g.42376268C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp2677His	rs1184751647	missense variant	-	NC_000019.10:g.42376266G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp2677Asn	rs1184751647	missense variant	-	NC_000019.10:g.42376266G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Asp2677Gly	rs541061019	missense variant	-	NC_000019.10:g.42376267A>G	1000Genomes,ExAC
MEGF8	Q7Z7M0	p.Arg2679Gly	rs752987335	missense variant	-	NC_000019.10:g.42376272C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2679Trp	rs752987335	missense variant	-	NC_000019.10:g.42376272C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2679Gln	rs1013782173	missense variant	-	NC_000019.10:g.42376273G>A	TOPMed
MEGF8	Q7Z7M0	p.Glu2681Lys	rs1157678169	missense variant	-	NC_000019.10:g.42376278G>A	gnomAD
MEGF8	Q7Z7M0	p.Glu2681Gly	rs199675024	missense variant	-	NC_000019.10:g.42376279A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gln2682Glu	rs1454993816	missense variant	-	NC_000019.10:g.42376281C>G	gnomAD
MEGF8	Q7Z7M0	p.Arg2683His	rs950869878	missense variant	-	NC_000019.10:g.42376285G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2684Gln	rs749352975	missense variant	-	NC_000019.10:g.42376288G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2684Trp	rs377748543	missense variant	-	NC_000019.10:g.42376287C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.His2685Tyr	rs770873055	missense variant	-	NC_000019.10:g.42376290C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Leu2686Trp	RCV000551847	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42376294T>G	ClinVar
MEGF8	Q7Z7M0	p.Leu2686Trp	rs1555785144	missense variant	-	NC_000019.10:g.42376294T>G	-
MEGF8	Q7Z7M0	p.Gln2687Glu	rs1159881367	missense variant	-	NC_000019.10:g.42376296C>G	TOPMed
MEGF8	Q7Z7M0	p.Arg2695Cys	rs779493868	missense variant	-	NC_000019.10:g.42376320C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2695His	rs370389657	missense variant	-	NC_000019.10:g.42376321G>A	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2698Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376330C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Ala2698Gly	rs1218191232	missense variant	-	NC_000019.10:g.42376330C>G	gnomAD
MEGF8	Q7Z7M0	p.Lys2699Asn	rs1461151357	missense variant	-	NC_000019.10:g.42376334G>T	gnomAD
MEGF8	Q7Z7M0	p.Lys2699Thr	rs1261729829	missense variant	-	NC_000019.10:g.42376333A>C	gnomAD
MEGF8	Q7Z7M0	p.Val2702Ile	rs1245539911	missense variant	-	NC_000019.10:g.42376341G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Cys2703Tyr	rs1469019514	missense variant	-	NC_000019.10:g.42376345G>A	gnomAD
MEGF8	Q7Z7M0	p.Phe2704Cys	rs1408047750	missense variant	-	NC_000019.10:g.42376348T>G	gnomAD
MEGF8	Q7Z7M0	p.Pro2705Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376351C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro2706His	rs772701511	missense variant	-	NC_000019.10:g.42376354C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2706Thr	rs769540970	missense variant	-	NC_000019.10:g.42376353C>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Asp2707Tyr	COSM3823241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376356G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Pro2708Leu	rs1186747670	missense variant	-	NC_000019.10:g.42376360C>T	TOPMed
MEGF8	Q7Z7M0	p.Pro2708Thr	rs373293709	missense variant	-	NC_000019.10:g.42376359C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2708His	COSM5741619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376360C>A	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Thr2709Ile	rs765750865	missense variant	-	NC_000019.10:g.42376363C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Ala2710Val	rs1352725558	missense variant	-	NC_000019.10:g.42376366C>T	gnomAD
MEGF8	Q7Z7M0	p.Pro2711Leu	rs377485395	missense variant	-	NC_000019.10:g.42376369C>T	ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2711Ser	rs1466337776	missense variant	-	NC_000019.10:g.42376368C>T	TOPMed
MEGF8	Q7Z7M0	p.Pro2711Ala	rs1466337776	missense variant	-	NC_000019.10:g.42376368C>G	TOPMed
MEGF8	Q7Z7M0	p.Ala2714Thr	rs548176972	missense variant	-	NC_000019.10:g.42376377G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2714Ser	rs548176972	missense variant	-	NC_000019.10:g.42376377G>T	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Trp2715Ter	rs1323040403	stop gained	-	NC_000019.10:g.42376381G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Lys2716Asn	rs757370273	missense variant	-	NC_000019.10:g.42376385G>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2717Leu	rs778790173	missense variant	-	NC_000019.10:g.42376387C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2717Ser	rs1265353118	missense variant	-	NC_000019.10:g.42376386C>T	gnomAD
MEGF8	Q7Z7M0	p.Gly2719Arg	rs772693677	missense variant	-	NC_000019.10:g.42376392G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2721Leu	rs951286093	missense variant	-	NC_000019.10:g.42376399C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2722Leu	rs747409318	missense variant	-	NC_000019.10:g.42376402C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2722Arg	rs747409318	missense variant	-	NC_000019.10:g.42376402C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2723Leu	COSM4595851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376405C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Ala2724Thr	rs530619835	missense variant	-	NC_000019.10:g.42376407G>A	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2724Gly	rs1451591365	missense variant	-	NC_000019.10:g.42376408C>G	TOPMed
MEGF8	Q7Z7M0	p.Arg2726Cys	rs141224456	missense variant	-	NC_000019.10:g.42376413C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2726His	rs554106070	missense variant	-	NC_000019.10:g.42376414G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2727Leu	rs759523264	missense variant	-	NC_000019.10:g.42376417G>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2727His	rs759523264	missense variant	-	NC_000019.10:g.42376417G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2727Cys	rs773723714	missense variant	-	NC_000019.10:g.42376416C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ser2728Tyr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376420C>A	NCI-TCGA
MEGF8	Q7Z7M0	p.Glu2729Gly	rs1345161858	missense variant	-	NC_000019.10:g.42376423A>G	gnomAD
MEGF8	Q7Z7M0	p.Pro2730His	rs775363240	missense variant	-	NC_000019.10:g.42376426C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2730Arg	rs775363240	missense variant	-	NC_000019.10:g.42376426C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2733Glu	rs763736870	missense variant	-	NC_000019.10:g.42376435C>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2734Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.42376437C>T	NCI-TCGA
MEGF8	Q7Z7M0	p.Pro2734Thr	rs1337851763	missense variant	-	NC_000019.10:g.42376437C>A	gnomAD
MEGF8	Q7Z7M0	p.Leu2735Val	rs754092671	missense variant	-	NC_000019.10:g.42376440C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2740Thr	rs1274348259	missense variant	-	NC_000019.10:g.42376455G>A	gnomAD
MEGF8	Q7Z7M0	p.Ala2740Ser	COSM6084864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376455G>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Gly2741Ser	rs765414410	missense variant	-	NC_000019.10:g.42376458G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2742Ala	rs1270384519	missense variant	-	NC_000019.10:g.42376462G>C	gnomAD
MEGF8	Q7Z7M0	p.Pro2743Leu	rs925382191	missense variant	-	NC_000019.10:g.42376465C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2743Ala	rs758513082	missense variant	-	NC_000019.10:g.42376464C>G	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Pro2746Leu	COSM3712938	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.42376474C>T	NCI-TCGA Cosmic
MEGF8	Q7Z7M0	p.Met2747Val	rs780730679	missense variant	-	NC_000019.10:g.42376476A>G	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Met2747Lys	rs1405301829	missense variant	-	NC_000019.10:g.42376477T>A	TOPMed
MEGF8	Q7Z7M0	p.Gly2748Ala	rs1474969745	missense variant	-	NC_000019.10:g.42376480G>C	gnomAD
MEGF8	Q7Z7M0	p.Gly2749Glu	rs1168236901	missense variant	-	NC_000019.10:g.42376483G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2750Asp	rs1421611748	missense variant	-	NC_000019.10:g.42376486G>A	gnomAD
MEGF8	Q7Z7M0	p.Pro2753Leu	rs747462291	missense variant	-	NC_000019.10:g.42376495C>T	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2754Leu	rs1365022835	missense variant	-	NC_000019.10:g.42376498C>T	gnomAD
MEGF8	Q7Z7M0	p.Ile2756Val	rs1425609081	missense variant	-	NC_000019.10:g.42376503A>G	gnomAD
MEGF8	Q7Z7M0	p.Pro2757Thr	rs1369668558	missense variant	-	NC_000019.10:g.42376506C>A	TOPMed
MEGF8	Q7Z7M0	p.Ala2758Thr	rs781408938	missense variant	-	NC_000019.10:g.42376509G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2759Ile	rs749030562	missense variant	-	NC_000019.10:g.42376513C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2761Pro	rs1368032599	missense variant	-	NC_000019.10:g.42376518G>C	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2761Thr	rs1368032599	missense variant	-	NC_000019.10:g.42376518G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2762Arg	rs770472361	missense variant	-	NC_000019.10:g.42376521G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2764Gln	rs1359538224	missense variant	-	NC_000019.10:g.42376528G>A	gnomAD
MEGF8	Q7Z7M0	p.Arg2764Ter	rs1290482229	stop gained	-	NC_000019.10:g.42376527C>T	gnomAD
MEGF8	Q7Z7M0	p.Ile2768Val	rs1223996344	missense variant	-	NC_000019.10:g.42376539A>G	gnomAD
MEGF8	Q7Z7M0	p.Thr2769Ala	rs1281734599	missense variant	-	NC_000019.10:g.42376542A>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2769Ser	rs773956907	missense variant	-	NC_000019.10:g.42376543C>G	ExAC
MEGF8	Q7Z7M0	p.Leu2770Val	rs949638636	missense variant	-	NC_000019.10:g.42376545C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu2771Lys	rs1193688581	missense variant	-	NC_000019.10:g.42376548G>A	gnomAD
MEGF8	Q7Z7M0	p.Val2780Met	rs1182907814	missense variant	-	NC_000019.10:g.42376575G>A	gnomAD
MEGF8	Q7Z7M0	p.Gln2786Arg	rs1309978006	missense variant	-	NC_000019.10:g.42376594A>G	TOPMed
MEGF8	Q7Z7M0	p.Gly2790Arg	rs776276340	missense variant	-	NC_000019.10:g.42376605G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Pro2791Leu	rs1400317472	missense variant	-	NC_000019.10:g.42376609C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala2793Val	rs1450820695	missense variant	-	NC_000019.10:g.42376615C>T	gnomAD
MEGF8	Q7Z7M0	p.Ala2793Thr	rs1391278086	missense variant	-	NC_000019.10:g.42376614G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2796Ser	rs995223242	missense variant	-	NC_000019.10:g.42376623G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2800Arg	rs1205340950	missense variant	-	NC_000019.10:g.42376635G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2800Glu	rs758564292	missense variant	-	NC_000019.10:g.42376636G>A	ExAC,gnomAD
MEGF8	Q7Z7M0	p.Arg2807Trp	rs755424542	missense variant	-	NC_000019.10:g.42376656C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2807Gln	rs546648359	missense variant	-	NC_000019.10:g.42376657G>A	1000Genomes,ExAC,gnomAD
MEGF8	Q7Z7M0	p.His2808Arg	rs1159367592	missense variant	-	NC_000019.10:g.42376660A>G	gnomAD
MEGF8	Q7Z7M0	p.His2808Tyr	rs748426418	missense variant	-	NC_000019.10:g.42376659C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2809Lys	RCV000540003	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42376663G>A	ClinVar
MEGF8	Q7Z7M0	p.Arg2809Lys	rs11881304	missense variant	-	NC_000019.10:g.42376663G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Glu2812Asp	rs554973700	missense variant	-	NC_000019.10:g.42376673G>C	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2815Glu	rs1326347816	missense variant	-	NC_000019.10:g.42376681G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2816Cys	rs373738711	missense variant	-	NC_000019.10:g.42376683G>T	ESP,ExAC,gnomAD
MEGF8	Q7Z7M0	p.Gly2816Val	rs367932670	missense variant	-	NC_000019.10:g.42376684G>T	ESP,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2817Ser	rs779537526	missense variant	-	NC_000019.10:g.42376686G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2817Ala	rs747008772	missense variant	-	NC_000019.10:g.42376687G>C	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2818Glu	rs1320920881	missense variant	-	NC_000019.10:g.42376690G>A	gnomAD
MEGF8	Q7Z7M0	p.Ser2823Gly	RCV000514372	missense variant	-	NC_000019.10:g.42376704A>G	ClinVar
MEGF8	Q7Z7M0	p.Ser2823Gly	rs537269414	missense variant	-	NC_000019.10:g.42376704A>G	1000Genomes,ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2824Arg	rs1437325934	missense variant	-	NC_000019.10:g.42376707G>A	gnomAD
MEGF8	Q7Z7M0	p.Gly2828Val	rs1336179289	missense variant	-	NC_000019.10:g.42376720G>T	TOPMed
MEGF8	Q7Z7M0	p.Gly2828Asp	rs1336179289	missense variant	-	NC_000019.10:g.42376720G>A	TOPMed
MEGF8	Q7Z7M0	p.Ala2829Thr	rs1176227129	missense variant	-	NC_000019.10:g.42376722G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Ala2829Val	rs975858414	missense variant	-	NC_000019.10:g.42376723C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2830Asp	rs912488220	missense variant	-	NC_000019.10:g.42376726G>A	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2831Trp	rs763261685	missense variant	-	NC_000019.10:g.42376728C>T	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Arg2831Gln	rs766621187	missense variant	-	NC_000019.10:g.42376729G>A	ExAC,TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Gly2833Arg	rs1391488586	missense variant	-	NC_000019.10:g.42376734G>A	gnomAD
MEGF8	Q7Z7M0	p.Leu2834Pro	rs1309282319	missense variant	-	NC_000019.10:g.42376738T>C	gnomAD
MEGF8	Q7Z7M0	p.Gln2837His	rs988145517	missense variant	-	NC_000019.10:g.42376748G>C	TOPMed
MEGF8	Q7Z7M0	p.Gln2837Arg	rs1343305610	missense variant	-	NC_000019.10:g.42376747A>G	gnomAD
MEGF8	Q7Z7M0	p.Asn2839Thr	rs61978610	missense variant	-	NC_000019.10:g.42376753A>C	1000Genomes
MEGF8	Q7Z7M0	p.Asn2839Ser	rs61978610	missense variant	-	NC_000019.10:g.42376753A>G	1000Genomes
MEGF8	Q7Z7M0	p.Thr2841Ile	rs914088074	missense variant	-	NC_000019.10:g.42376759C>T	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2841Ala	rs1403936881	missense variant	-	NC_000019.10:g.42376758A>G	gnomAD
MEGF8	Q7Z7M0	p.Thr2841Ser	rs914088074	missense variant	-	NC_000019.10:g.42376759C>G	TOPMed,gnomAD
MEGF8	Q7Z7M0	p.Thr2841Ser	RCV000554737	missense variant	Carpenter syndrome 2 (CRPT2)	NC_000019.10:g.42376759C>G	ClinVar
MEGF8	Q7Z7M0	p.Met2843Val	rs1451082734	missense variant	-	NC_000019.10:g.42376764A>G	gnomAD
SDCCAG8	Q86SQ7	p.Ser4Tyr	rs756729603	missense variant	-	NC_000001.11:g.243256184C>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser4Phe	rs756729603	missense variant	-	NC_000001.11:g.243256184C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser4Thr	rs1271164856	missense variant	-	NC_000001.11:g.243256183T>A	gnomAD
SDCCAG8	Q86SQ7	p.Pro5Ser	rs780396877	missense variant	-	NC_000001.11:g.243256186C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro5Leu	rs747363592	missense variant	-	NC_000001.11:g.243256187C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu6Gln	rs1201744229	missense variant	-	NC_000001.11:g.243256189G>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu6Lys	rs1201744229	missense variant	-	NC_000001.11:g.243256189G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu6Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243256191G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Asn7Ser	rs777253071	missense variant	-	NC_000001.11:g.243256193A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asn7Asp	rs769155506	missense variant	-	NC_000001.11:g.243256192A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser8Cys	rs545810276	missense variant	-	NC_000001.11:g.243256196C>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser8Tyr	rs545810276	missense variant	-	NC_000001.11:g.243256196C>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser8Pro	rs1193390013	missense variant	-	NC_000001.11:g.243256195T>C	gnomAD
SDCCAG8	Q86SQ7	p.Thr9Ala	rs1476678988	missense variant	-	NC_000001.11:g.243256198A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu11Val	rs1174426189	missense variant	-	NC_000001.11:g.243256205A>T	gnomAD
SDCCAG8	Q86SQ7	p.Glu11Lys	COSM6125577	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243256204G>A	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Glu11Gln	rs773442925	missense variant	-	NC_000001.11:g.243256204G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu12Gly	COSM1473704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243256208A>G	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Ile13Met	rs1330731802	missense variant	-	NC_000001.11:g.243256212T>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile13Phe	rs763172123	missense variant	-	NC_000001.11:g.243256210A>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu14Met	rs1298963706	missense variant	-	NC_000001.11:g.243256213C>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu14Pro	rs1362864982	missense variant	-	NC_000001.11:g.243256214T>C	gnomAD
SDCCAG8	Q86SQ7	p.Gln16His	rs1398602761	missense variant	-	NC_000001.11:g.243256221G>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln16Ter	rs1270412613	stop gained	-	NC_000001.11:g.243256219C>T	TOPMed
SDCCAG8	Q86SQ7	p.Tyr17Asp	rs766544254	missense variant	-	NC_000001.11:g.243256222T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg19Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243256228C>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ser20Asn	rs1236044973	missense variant	-	NC_000001.11:g.243256232G>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu21Pro	rs760366880	missense variant	-	NC_000001.11:g.243256235T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu21Arg	rs760366880	missense variant	-	NC_000001.11:g.243256235T>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg22Gln	rs757244638	missense variant	-	NC_000001.11:g.243256238G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg22Trp	rs753770267	missense variant	-	NC_000001.11:g.243256237C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg22Pro	rs757244638	missense variant	-	NC_000001.11:g.243256238G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu23Lys	rs941604656	missense variant	-	NC_000001.11:g.243256240G>A	TOPMed
SDCCAG8	Q86SQ7	p.Glu23Ter	rs941604656	stop gained	-	NC_000001.11:g.243256240G>T	TOPMed
SDCCAG8	Q86SQ7	p.Ser26Gly	rs1179385721	missense variant	-	NC_000001.11:g.243270113A>G	gnomAD
SDCCAG8	Q86SQ7	p.Ser26Asn	rs749885268	missense variant	-	NC_000001.11:g.243270114G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ile29Val	rs1158230245	missense variant	-	NC_000001.11:g.243270122A>G	gnomAD
SDCCAG8	Q86SQ7	p.Thr33Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243270134A>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Cys34Trp	rs754715125	missense variant	-	NC_000001.11:g.243270139T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Cys34Phe	rs1353035363	missense variant	-	NC_000001.11:g.243270138G>T	TOPMed
SDCCAG8	Q86SQ7	p.Ala35Thr	rs781638035	missense variant	-	NC_000001.11:g.243270140G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu38Lys	rs753147253	missense variant	-	NC_000001.11:g.243270149G>A	ExAC
SDCCAG8	Q86SQ7	p.Gly39Ser	rs756642876	missense variant	-	NC_000001.11:g.243270152G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp40Asn	rs202114636	missense variant	-	NC_000001.11:g.243270155G>A	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr42Ser	rs770913941	missense variant	-	NC_000001.11:g.243270162C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ile43Val	rs554498906	missense variant	-	NC_000001.11:g.243270164A>G	gnomAD
SDCCAG8	Q86SQ7	p.Glu45Gly	rs779107589	missense variant	-	NC_000001.11:g.243270171A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu45Val	rs779107589	missense variant	-	NC_000001.11:g.243270171A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp46Val	rs746020647	missense variant	-	NC_000001.11:g.243270174A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asn49Ser	rs772285144	missense variant	-	NC_000001.11:g.243270183A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser53Arg	rs776370459	missense variant	-	NC_000001.11:g.243270196C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr54Ile	rs769624417	missense variant	-	NC_000001.11:g.243270198C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr54Ser	rs761616528	missense variant	-	NC_000001.11:g.243270197A>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser55Ile	rs1257193759	missense variant	-	NC_000001.11:g.243270201G>T	gnomAD
SDCCAG8	Q86SQ7	p.Gly57SerArgGlyGlyGlnLeuHisTerPro	NCI-TCGA novel	stop gained	-	NC_000001.11:g.243270207_243270208insTTCTAGGGGTGGTCAGTTGCACTAACC	NCI-TCGA
SDCCAG8	Q86SQ7	p.Asn58Lys	rs368801248	missense variant	-	NC_000001.11:g.243270211T>A	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala61Pro	rs149928402	missense variant	-	NC_000001.11:g.243270218G>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala61Asp	rs1466620787	missense variant	-	NC_000001.11:g.243270219C>A	gnomAD
SDCCAG8	Q86SQ7	p.Ala61Thr	rs149928402	missense variant	-	NC_000001.11:g.243270218G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala61Ser	rs149928402	missense variant	-	NC_000001.11:g.243270218G>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala61Val	rs1466620787	missense variant	-	NC_000001.11:g.243270219C>T	gnomAD
SDCCAG8	Q86SQ7	p.Ala64Thr	rs1171124979	missense variant	-	NC_000001.11:g.243270227G>A	gnomAD
SDCCAG8	Q86SQ7	p.Ala64Val	rs573336252	missense variant	-	NC_000001.11:g.243270228C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro66Ser	rs1380947147	missense variant	-	NC_000001.11:g.243270233C>T	gnomAD
SDCCAG8	Q86SQ7	p.Glu67Lys	rs756518004	missense variant	-	NC_000001.11:g.243270236G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu67Asp	rs929473088	missense variant	-	NC_000001.11:g.243270238A>C	gnomAD
SDCCAG8	Q86SQ7	p.Leu68Ile	rs778351444	missense variant	-	NC_000001.11:g.243270239T>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu68Val	rs778351444	missense variant	-	NC_000001.11:g.243270239T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Val74Gly	rs757663061	missense variant	-	NC_000001.11:g.243270978T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln76Arg	rs1327638045	missense variant	-	NC_000001.11:g.243270984A>G	TOPMed
SDCCAG8	Q86SQ7	p.Leu77Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243270986C>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Lys78Glu	rs765793486	missense variant	-	NC_000001.11:g.243270989A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys78Arg	rs750977682	missense variant	-	NC_000001.11:g.243270990A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp79Glu	rs146474568	missense variant	-	NC_000001.11:g.243270994T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp79Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243270992G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Asp79Glu	RCV000532918	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243270994T>A	ClinVar
SDCCAG8	Q86SQ7	p.Asp79Glu	RCV000365007	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243270994T>A	ClinVar
SDCCAG8	Q86SQ7	p.Asp79Glu	RCV000310366	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243270994T>A	ClinVar
SDCCAG8	Q86SQ7	p.Leu80Val	rs1384864639	missense variant	-	NC_000001.11:g.243270995T>G	TOPMed
SDCCAG8	Q86SQ7	p.Leu80Phe	rs747215236	missense variant	-	NC_000001.11:g.243270997G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg82Cys	RCV000436103	missense variant	-	NC_000001.11:g.243271001C>T	ClinVar
SDCCAG8	Q86SQ7	p.Arg82Leu	rs577345357	missense variant	-	NC_000001.11:g.243271002G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg82His	rs577345357	missense variant	-	NC_000001.11:g.243271002G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg82Cys	rs143447584	missense variant	-	NC_000001.11:g.243271001C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln84Lys	rs201658593	missense variant	-	NC_000001.11:g.243271007C>A	1000Genomes
SDCCAG8	Q86SQ7	p.Lys87Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243271017A>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Lys87Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243271017A>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Lys87Glu	rs1479508693	missense variant	-	NC_000001.11:g.243271016A>G	TOPMed
SDCCAG8	Q86SQ7	p.Glu88Gly	rs770685116	missense variant	-	NC_000001.11:g.243271020A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu88Ala	rs770685116	missense variant	-	NC_000001.11:g.243271020A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu90Gly	rs949394710	missense variant	-	NC_000001.11:g.243271026A>G	TOPMed
SDCCAG8	Q86SQ7	p.Pro93Arg	rs140413256	missense variant	-	NC_000001.11:g.243271035C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro93Gln	rs140413256	missense variant	-	NC_000001.11:g.243271035C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro93Leu	rs140413256	missense variant	-	NC_000001.11:g.243271035C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro93Leu	RCV000276217	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243271035C>T	ClinVar
SDCCAG8	Q86SQ7	p.Pro93Leu	RCV000389243	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243271035C>T	ClinVar
SDCCAG8	Q86SQ7	p.Pro93Ser	rs1284369812	missense variant	-	NC_000001.11:g.243271034C>T	gnomAD
SDCCAG8	Q86SQ7	p.Ser94Thr	rs776810375	missense variant	-	NC_000001.11:g.243271037T>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg95Gly	rs377564587	missense variant	-	NC_000001.11:g.243271040A>G	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys98Gln	rs750921444	missense variant	-	NC_000001.11:g.243271049A>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met99Ile	rs193291617	missense variant	-	NC_000001.11:g.243271054G>A	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met99LeuIleTyrTyrAla	NCI-TCGA novel	insertion	-	NC_000001.11:g.243271054_243271055insCTGATATATTATGCA	NCI-TCGA
SDCCAG8	Q86SQ7	p.Met99Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243271052A>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Met99IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.243271052_243271053insT	NCI-TCGA
SDCCAG8	Q86SQ7	p.Pro101Leu	rs371182563	missense variant	-	NC_000001.11:g.243271059C>T	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Pro101His	rs371182563	missense variant	-	NC_000001.11:g.243271059C>A	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu102Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.243271056C>-	NCI-TCGA
SDCCAG8	Q86SQ7	p.Arg103Gly	rs773575477	missense variant	-	NC_000001.11:g.243274543A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg103Ser	rs1401145435	missense variant	-	NC_000001.11:g.243274545G>T	gnomAD
SDCCAG8	Q86SQ7	p.Ser104Leu	COSM3486259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243274547C>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Glu106Gly	rs1467303373	missense variant	-	NC_000001.11:g.243274553A>G	gnomAD
SDCCAG8	Q86SQ7	p.His107Gln	rs766899717	missense variant	-	NC_000001.11:g.243274557T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu109Gly	rs752112426	missense variant	-	NC_000001.11:g.243274562A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr110Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243274565C>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Thr110Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243274564A>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Thr110Ala	rs1448996546	missense variant	-	NC_000001.11:g.243274564A>G	gnomAD
SDCCAG8	Q86SQ7	p.Thr110Asn	rs1286341336	missense variant	-	NC_000001.11:g.243274565C>A	gnomAD
SDCCAG8	Q86SQ7	p.Asn111Asp	rs759634630	missense variant	-	NC_000001.11:g.243274567A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asn111Tyr	rs759634630	missense variant	-	NC_000001.11:g.243274567A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met112Ile	rs767563520	missense variant	-	NC_000001.11:g.243274572G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met112Val	rs1391638572	missense variant	-	NC_000001.11:g.243274570A>G	TOPMed
SDCCAG8	Q86SQ7	p.Asp117Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243274586A>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Asp117Asn	rs913322544	missense variant	-	NC_000001.11:g.243274585G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp117Ala	rs149561407	missense variant	-	NC_000001.11:g.243274586A>C	ESP,ExAC
SDCCAG8	Q86SQ7	p.Leu118Phe	COSM5380280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243274588C>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Val119CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.243274588_243274589insT	NCI-TCGA
SDCCAG8	Q86SQ7	p.His120Arg	rs778785206	missense variant	-	NC_000001.11:g.243274595A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His120Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243274594C>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ile122Val	rs377473337	missense variant	-	NC_000001.11:g.243274600A>G	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile122Thr	rs758051187	missense variant	-	NC_000001.11:g.243274601T>C	gnomAD
SDCCAG8	Q86SQ7	p.Asp124Gly	rs1484553079	missense variant	-	NC_000001.11:g.243274607A>G	TOPMed
SDCCAG8	Q86SQ7	p.Gln125Ter	rs977933821	stop gained	-	NC_000001.11:g.243274609C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln125His	rs780115638	missense variant	-	NC_000001.11:g.243274611G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His131Arg	rs746959035	missense variant	-	NC_000001.11:g.243274628A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.His131Asn	rs1379400598	missense variant	-	NC_000001.11:g.243274627C>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu132Ser	rs1166274752	missense variant	-	NC_000001.11:g.243274631T>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu133Ter	rs768207230	stop gained	-	NC_000001.11:g.243274633G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu133Lys	rs768207230	missense variant	-	NC_000001.11:g.243274633G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala134Thr	rs1336327972	missense variant	-	NC_000001.11:g.243274636G>A	gnomAD
SDCCAG8	Q86SQ7	p.Ala134Val	rs780621104	missense variant	-	NC_000001.11:g.243274637C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu135Val	rs747774826	missense variant	-	NC_000001.11:g.243274640A>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu135Lys	rs1405261323	missense variant	-	NC_000001.11:g.243274639G>A	TOPMed
SDCCAG8	Q86SQ7	p.Glu135Ter	rs1405261323	stop gained	-	NC_000001.11:g.243274639G>T	TOPMed
SDCCAG8	Q86SQ7	p.Cys139Tyr	rs773522256	missense variant	-	NC_000001.11:g.243274652G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys139Phe	rs773522256	missense variant	-	NC_000001.11:g.243274652G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys139Arg	rs769333887	missense variant	-	NC_000001.11:g.243274651T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys140Asn	rs763284045	missense variant	-	NC_000001.11:g.243274656G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu143Val	rs371179612	missense variant	-	NC_000001.11:g.243286278C>G	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu143Ile	rs371179612	missense variant	-	NC_000001.11:g.243286278C>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser144Ala	rs749010399	missense variant	-	NC_000001.11:g.243286281T>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser144Phe	rs1453249734	missense variant	-	NC_000001.11:g.243286282C>T	gnomAD
SDCCAG8	Q86SQ7	p.Ser144Cys	COSM425784	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243286282C>G	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Gly145Arg	rs1251166857	missense variant	-	NC_000001.11:g.243286284G>A	gnomAD
SDCCAG8	Q86SQ7	p.Lys147Ile	COSM679632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243286291A>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Ile150Thr	rs1454024385	missense variant	-	NC_000001.11:g.243286300T>C	gnomAD
SDCCAG8	Q86SQ7	p.Ile150Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243286301A>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Val152Ile	rs374580113	missense variant	-	NC_000001.11:g.243286305G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val153Leu	rs1382571163	missense variant	-	NC_000001.11:g.243286308G>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu158Lys	rs367590060	missense variant	-	NC_000001.11:g.243286323G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln161Ter	rs797045947	stop gained	-	NC_000001.11:g.243286332C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln161Ter	RCV000193333	nonsense	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243286332C>T	ClinVar
SDCCAG8	Q86SQ7	p.Gln162Leu	rs1369558546	missense variant	-	NC_000001.11:g.243286336A>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln162Glu	rs760647221	missense variant	-	NC_000001.11:g.243286335C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser166Cys	rs776989165	missense variant	-	NC_000001.11:g.243286348C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln167Arg	rs1437289653	missense variant	-	NC_000001.11:g.243286351A>G	TOPMed
SDCCAG8	Q86SQ7	p.Gln167His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243286352A>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu171Ter	rs1160995964	stop gained	-	NC_000001.11:g.243286362G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu171Asp	COSM906594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243286364G>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Leu173Pro	rs541533278	missense variant	-	NC_000001.11:g.243286369T>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu173Pro	RCV000652118	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243286369T>C	ClinVar
SDCCAG8	Q86SQ7	p.Arg174Lys	rs368200875	missense variant	-	NC_000001.11:g.243286372G>A	ESP,gnomAD
SDCCAG8	Q86SQ7	p.Glu175Lys	rs767375284	missense variant	-	NC_000001.11:g.243286374G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu175Ter	rs767375284	stop gained	-	NC_000001.11:g.243286374G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu178Pro	rs773249871	missense variant	-	NC_000001.11:g.243286384T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu179Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243286386C>A	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ala181Val	rs372403021	missense variant	-	NC_000001.11:g.243286393C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala181Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243286392G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Gly183Arg	rs1370803511	missense variant	-	NC_000001.11:g.243293091G>C	gnomAD
SDCCAG8	Q86SQ7	p.Met185Val	rs752567022	missense variant	-	NC_000001.11:g.243293097A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.His186Arg	rs144254594	missense variant	-	NC_000001.11:g.243293101A>G	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His186Pro	rs144254594	missense variant	-	NC_000001.11:g.243293101A>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn187Ser	rs185077992	missense variant	-	NC_000001.11:g.243293104A>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser188Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243293107C>A	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ser188Phe	COSM3486260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243293107C>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Trp189Ter	rs797045948	stop gained	-	NC_000001.11:g.243293111G>A	-
SDCCAG8	Q86SQ7	p.Trp189Ter	RCV000194004	nonsense	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243293111G>A	ClinVar
SDCCAG8	Q86SQ7	p.Ile190Phe	rs753378200	missense variant	-	NC_000001.11:g.243293112A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr191Ile	rs150070966	missense variant	-	NC_000001.11:g.243293116C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr191Ile	RCV000399034	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243293116C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr191Ile	RCV000763845	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243293116C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr191Ile	RCV000342454	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243293116C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr191Ile	RCV000522463	missense variant	-	NC_000001.11:g.243293116C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr192Ile	rs1297852135	missense variant	-	NC_000001.11:g.243293119C>T	gnomAD
SDCCAG8	Q86SQ7	p.Thr192Ala	rs1003029505	missense variant	-	NC_000001.11:g.243293118A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gly193Ala	rs750128305	missense variant	-	NC_000001.11:g.243293122G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gly193Val	rs750128305	missense variant	-	NC_000001.11:g.243293122G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu194Gln	rs1256869625	missense variant	-	NC_000001.11:g.243293124G>C	gnomAD
SDCCAG8	Q86SQ7	p.Asp195Val	rs780525378	missense variant	-	NC_000001.11:g.243293128A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser196Tyr	rs1279083657	missense variant	-	NC_000001.11:g.243293131C>A	gnomAD
SDCCAG8	Q86SQ7	p.Val198Met	rs747460316	missense variant	-	NC_000001.11:g.243293136G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu200Lys	rs748257473	missense variant	-	NC_000001.11:g.243293142G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr201Ala	rs769963982	missense variant	-	NC_000001.11:g.243293145A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr201Ile	rs1427470090	missense variant	-	NC_000001.11:g.243293146C>T	gnomAD
SDCCAG8	Q86SQ7	p.Lys203Glu	rs1456606708	missense variant	-	NC_000001.11:g.243293151A>G	TOPMed
SDCCAG8	Q86SQ7	p.Lys203Arg	rs1176153899	missense variant	-	NC_000001.11:g.243293152A>G	gnomAD
SDCCAG8	Q86SQ7	p.Pro205Arg	rs1365716923	missense variant	-	NC_000001.11:g.243293158C>G	TOPMed
SDCCAG8	Q86SQ7	p.Phe206Ser	rs1379052420	missense variant	-	NC_000001.11:g.243293161T>C	gnomAD
SDCCAG8	Q86SQ7	p.Ser207Pro	rs773304620	missense variant	-	NC_000001.11:g.243293163T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser207ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.243293160T>-	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ser207Phe	rs1182767716	missense variant	-	NC_000001.11:g.243293164C>T	TOPMed
SDCCAG8	Q86SQ7	p.His208Arg	rs763297129	missense variant	-	NC_000001.11:g.243293167A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn210Ser	rs775273268	missense variant	-	NC_000001.11:g.243293173A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala211Gly	rs1286985966	missense variant	-	NC_000001.11:g.243293176C>G	gnomAD
SDCCAG8	Q86SQ7	p.Ala211Val	rs1286985966	missense variant	-	NC_000001.11:g.243293176C>T	gnomAD
SDCCAG8	Q86SQ7	p.Asp212His	rs760565857	missense variant	-	NC_000001.11:g.243293178G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys215Glu	rs764042433	missense variant	-	NC_000001.11:g.243293187A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala216Thr	rs753823148	missense variant	-	NC_000001.11:g.243293190G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala216Val	rs1350385738	missense variant	-	NC_000001.11:g.243293191C>T	gnomAD
SDCCAG8	Q86SQ7	p.Ala217Thr	rs1272334660	missense variant	-	NC_000001.11:g.243293193G>A	TOPMed
SDCCAG8	Q86SQ7	p.Ser218Tyr	rs761283265	missense variant	-	NC_000001.11:g.243293197C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala219Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243293199G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu221Lys	rs373999051	missense variant	-	NC_000001.11:g.243293205G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu221Gly	rs900949463	missense variant	-	NC_000001.11:g.243293206A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln222His	rs1470059477	missense variant	-	NC_000001.11:g.243293210G>T	gnomAD
SDCCAG8	Q86SQ7	p.Lys227Ter	rs267607031	stop gained	-	NC_000001.11:g.243304716A>T	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys227Ter	RCV000000078	nonsense	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243304716A>T	ClinVar
SDCCAG8	Q86SQ7	p.Leu228Val	rs768424996	missense variant	-	NC_000001.11:g.243304719C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu228Pro	rs776422346	missense variant	-	NC_000001.11:g.243304720T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys229AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.243304721A>-	NCI-TCGA
SDCCAG8	Q86SQ7	p.Tyr232Ter	rs772544112	stop gained	-	NC_000001.11:g.243304733T>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr232Phe	rs747968552	missense variant	-	NC_000001.11:g.243304732A>T	ExAC,TOPMed
SDCCAG8	Q86SQ7	p.Tyr232Ser	rs747968552	missense variant	-	NC_000001.11:g.243304732A>C	ExAC,TOPMed
SDCCAG8	Q86SQ7	p.Glu233Gln	rs1175941103	missense variant	-	NC_000001.11:g.243304734G>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu234Lys	rs902664548	missense variant	-	NC_000001.11:g.243304737G>A	gnomAD
SDCCAG8	Q86SQ7	p.Cys236Tyr	rs1299404653	missense variant	-	NC_000001.11:g.243304744G>A	gnomAD
SDCCAG8	Q86SQ7	p.Glu237Gly	rs766024310	missense variant	-	NC_000001.11:g.243304747A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu240Lys	rs774139674	missense variant	-	NC_000001.11:g.243304755G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser241Pro	rs759278534	missense variant	-	NC_000001.11:g.243304758T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser241Phe	rs767930611	missense variant	-	NC_000001.11:g.243304759C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser241Tyr	rs767930611	missense variant	-	NC_000001.11:g.243304759C>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln242Arg	rs923218609	missense variant	-	NC_000001.11:g.243304762A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu243Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243304766G>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Lys244Arg	rs754344258	missense variant	-	NC_000001.11:g.243304768A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp249Asn	rs757829748	missense variant	-	NC_000001.11:g.243307993G>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu250Ser	rs1357310997	missense variant	-	NC_000001.11:g.243307997T>C	gnomAD
SDCCAG8	Q86SQ7	p.Ala251Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243308000C>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu252Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243308002G>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Gln254Arg	rs958074911	missense variant	-	NC_000001.11:g.243308009A>G	TOPMed
SDCCAG8	Q86SQ7	p.Arg255Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243308012G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Cys257Tyr	COSM906597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308018G>A	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Glu258Lys	rs771025288	missense variant	-	NC_000001.11:g.243308020G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu260Val	RCV000704873	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243308026C>G	ClinVar
SDCCAG8	Q86SQ7	p.Leu260Val	RCV000504492	missense variant	-	NC_000001.11:g.243308026C>G	ClinVar
SDCCAG8	Q86SQ7	p.Leu260Val	rs201869920	missense variant	-	NC_000001.11:g.243308026C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu262Ter	rs149038104	stop gained	-	NC_000001.11:g.243308032G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu262Gln	rs149038104	missense variant	-	NC_000001.11:g.243308032G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu262Asp	COSM906598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308034G>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.His266Pro	rs1337665597	missense variant	-	NC_000001.11:g.243308045A>C	gnomAD
SDCCAG8	Q86SQ7	p.Lys267Ter	RCV000680221	nonsense	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243308047A>T	ClinVar
SDCCAG8	Q86SQ7	p.Glu268Ala	rs1353587245	missense variant	-	NC_000001.11:g.243308051A>C	TOPMed
SDCCAG8	Q86SQ7	p.Glu268Ter	COSM906599	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.243308050G>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Leu270Ile	COSM906600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308056C>A	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Leu271Val	COSM414541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308059C>G	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Ala272Val	rs760305679	missense variant	-	NC_000001.11:g.243308063C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala272Asp	rs760305679	missense variant	-	NC_000001.11:g.243308063C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg278Ser	rs769004589	missense variant	-	NC_000001.11:g.243308080C>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg278His	rs200657425	missense variant	-	NC_000001.11:g.243308081G>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg278Leu	rs200657425	missense variant	-	NC_000001.11:g.243308081G>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg278Cys	rs769004589	missense variant	-	NC_000001.11:g.243308080C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val279Ala	rs1428655766	missense variant	-	NC_000001.11:g.243308084T>C	gnomAD
SDCCAG8	Q86SQ7	p.Gly281Asp	rs765751496	missense variant	-	NC_000001.11:g.243308090G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gly281Ser	rs762264766	missense variant	-	NC_000001.11:g.243308089G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gly281Ala	COSM1560735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308090G>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Leu282Arg	rs1387290886	missense variant	-	NC_000001.11:g.243308093T>G	TOPMed
SDCCAG8	Q86SQ7	p.Cys286Arg	rs762988087	missense variant	-	NC_000001.11:g.243308104T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Cys286Ser	rs762988087	missense variant	-	NC_000001.11:g.243308104T>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Cys286Ser	COSM679631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308105G>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Ala287Thr	COSM679630	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308107G>A	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Gln288Glu	rs766435425	missense variant	-	NC_000001.11:g.243308110C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.His289Tyr	rs550235853	missense variant	-	NC_000001.11:g.243308113C>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His289Arg	rs147807589	missense variant	-	NC_000001.11:g.243308114A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val292Leu	rs777585788	missense variant	-	NC_000001.11:g.243308122G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu293Val	rs753709683	missense variant	-	NC_000001.11:g.243308125C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu293Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243308125C>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Thr296Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243308135C>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.His297Tyr	rs1245691393	missense variant	-	NC_000001.11:g.243308137C>T	gnomAD
SDCCAG8	Q86SQ7	p.His297Arg	rs1267318794	missense variant	-	NC_000001.11:g.243308138A>G	gnomAD
SDCCAG8	Q86SQ7	p.Thr298Ala	rs1227898297	missense variant	-	NC_000001.11:g.243308140A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr298Ser	rs757167654	missense variant	-	NC_000001.11:g.243308141C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asn299Ser	rs1376840501	missense variant	-	NC_000001.11:g.243308144A>G	TOPMed
SDCCAG8	Q86SQ7	p.Asn299Asp	rs778967078	missense variant	-	NC_000001.11:g.243308143A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val300Asp	rs745871095	missense variant	-	NC_000001.11:g.243308147T>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met302Leu	rs1187785931	missense variant	-	NC_000001.11:g.243308152A>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met302Val	rs1187785931	missense variant	-	NC_000001.11:g.243308152A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met302IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.243308153_243308174TGCAGACCATCGAAAGACTGGT>-	NCI-TCGA
SDCCAG8	Q86SQ7	p.Gln303Leu	rs779445385	missense variant	-	NC_000001.11:g.243308156A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln303Lys	rs555358582	missense variant	-	NC_000001.11:g.243308155C>A	1000Genomes,gnomAD
SDCCAG8	Q86SQ7	p.Ile305Val	rs200447734	missense variant	-	NC_000001.11:g.243308161A>G	gnomAD
SDCCAG8	Q86SQ7	p.Glu306Gly	rs534097517	missense variant	-	NC_000001.11:g.243308165A>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu306Lys	rs777002036	missense variant	-	NC_000001.11:g.243308164G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu306Asp	rs770183847	missense variant	-	NC_000001.11:g.243308166A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu306Lys	RCV000531568	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243308164G>A	ClinVar
SDCCAG8	Q86SQ7	p.Glu306Gln	COSM1659888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243308164G>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Val309Phe	rs149359674	missense variant	-	NC_000001.11:g.243308173G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val309Ile	RCV000180303	missense variant	-	NC_000001.11:g.243308173G>A	ClinVar
SDCCAG8	Q86SQ7	p.Val309Ile	rs149359674	missense variant	-	NC_000001.11:g.243308173G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg312Gly	rs767707839	missense variant	-	NC_000001.11:g.243316759A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu315Ser	rs200294385	missense variant	-	NC_000001.11:g.243316769T>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met316Thr	rs200461035	missense variant	-	NC_000001.11:g.243316772T>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser317Phe	rs368258515	missense variant	-	NC_000001.11:g.243316775C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala318Val	COSM1296093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243316778C>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Val320Leu	COSM679629	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243316783G>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Ser321Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243316787C>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Val322Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243316790T>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Val322Ile	RCV000242555	missense variant	-	NC_000001.11:g.243316789G>A	ClinVar
SDCCAG8	Q86SQ7	p.Val322Ile	rs6672843	missense variant	-	NC_000001.11:g.243316789G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg323Lys	rs576672580	missense variant	-	NC_000001.11:g.243316793G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser324Gly	rs780738331	missense variant	-	NC_000001.11:g.243316795A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser325Arg	rs747505682	missense variant	-	NC_000001.11:g.243316800C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala327Ser	rs1400898116	missense variant	-	NC_000001.11:g.243316804G>T	TOPMed
SDCCAG8	Q86SQ7	p.Thr329Met	rs35859404	missense variant	-	NC_000001.11:g.243316811C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr329Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243316811C>A	NCI-TCGA
SDCCAG8	Q86SQ7	p.Thr329Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243316811C>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Thr329Met	RCV000314190	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243316811C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr329Met	RCV000355058	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243316811C>T	ClinVar
SDCCAG8	Q86SQ7	p.Gln331Leu	rs749594870	missense variant	-	NC_000001.11:g.243316817A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln331His	rs771368318	missense variant	-	NC_000001.11:g.243316818A>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu333Lys	rs746449124	missense variant	-	NC_000001.11:g.243316822G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser335Arg	rs535395368	missense variant	-	NC_000001.11:g.243316828A>C	1000Genomes,gnomAD
SDCCAG8	Q86SQ7	p.Ala336Thr	rs1380907511	missense variant	-	NC_000001.11:g.243316831G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr337Cys	rs771991355	missense variant	-	NC_000001.11:g.243316835A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu338Gln	rs1431330757	missense variant	-	NC_000001.11:g.243316837G>C	TOPMed
SDCCAG8	Q86SQ7	p.Val340Leu	rs1308863502	missense variant	-	NC_000001.11:g.243316843G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys341Thr	rs145984257	missense variant	-	NC_000001.11:g.243316847A>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val343Gly	rs951295161	missense variant	-	NC_000001.11:g.243316853T>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val343Ile	rs760942783	missense variant	-	NC_000001.11:g.243316852G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Val343Phe	COSM906601	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243316852G>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Val343Ala	rs951295161	missense variant	-	NC_000001.11:g.243316853T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser347Thr	rs1255301286	missense variant	-	NC_000001.11:g.243316864T>A	gnomAD
SDCCAG8	Q86SQ7	p.Ala350Asp	rs1471887962	missense variant	-	NC_000001.11:g.243316874C>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn351Ser	rs1162706145	missense variant	-	NC_000001.11:g.243316877A>G	gnomAD
SDCCAG8	Q86SQ7	p.Lys354Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243316886A>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Thr355Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243316888A>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Thr355Asn	rs199524638	missense variant	-	NC_000001.11:g.243316889C>A	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr355Asn	RCV000494217	missense variant	-	NC_000001.11:g.243316889C>A	ClinVar
SDCCAG8	Q86SQ7	p.Gln360Pro	rs1281285070	missense variant	-	NC_000001.11:g.243330550A>C	gnomAD
SDCCAG8	Q86SQ7	p.Asp362Ala	COSM4030241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243330556A>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Gln363Ter	rs756942820	stop gained	-	NC_000001.11:g.243330558C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu364Phe	rs779109082	missense variant	-	NC_000001.11:g.243330563G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu364Met	rs1469099766	missense variant	-	NC_000001.11:g.243330561T>A	gnomAD
SDCCAG8	Q86SQ7	p.Arg365Thr	rs115098969	missense variant	-	NC_000001.11:g.243330565G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg365Lys	RCV000652119	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243330565G>A	ClinVar
SDCCAG8	Q86SQ7	p.Arg365Lys	RCV000173825	missense variant	-	NC_000001.11:g.243330565G>A	ClinVar
SDCCAG8	Q86SQ7	p.Arg365Lys	RCV000420793	missense variant	-	NC_000001.11:g.243330565G>A	ClinVar
SDCCAG8	Q86SQ7	p.Arg365Thr	RCV000500792	missense variant	-	NC_000001.11:g.243330565G>C	ClinVar
SDCCAG8	Q86SQ7	p.Arg365Lys	rs115098969	missense variant	-	NC_000001.11:g.243330565G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu367Lys	rs780671703	missense variant	-	NC_000001.11:g.243330570G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu369Asp	rs747582764	missense variant	-	NC_000001.11:g.243330578G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg370Lys	rs1471866292	missense variant	-	NC_000001.11:g.243330580G>A	gnomAD
SDCCAG8	Q86SQ7	p.Arg370Gly	rs968349091	missense variant	-	NC_000001.11:g.243330579A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln371Ter	rs1157809049	stop gained	-	NC_000001.11:g.243330582C>T	gnomAD
SDCCAG8	Q86SQ7	p.Ala372Val	rs74701277	missense variant	-	NC_000001.11:g.243330586C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala372Thr	rs1273633593	missense variant	-	NC_000001.11:g.243330585G>A	TOPMed
SDCCAG8	Q86SQ7	p.Ala372Gly	rs74701277	missense variant	-	NC_000001.11:g.243330586C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu373Gly	rs74579482	missense variant	-	NC_000001.11:g.243330589A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu373Lys	rs1161158288	missense variant	-	NC_000001.11:g.243330588G>A	gnomAD
SDCCAG8	Q86SQ7	p.Arg374Ter	rs770084716	stop gained	-	NC_000001.11:g.243330591C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg374Gly	rs770084716	missense variant	-	NC_000001.11:g.243330591C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg374Ter	RCV000785890	nonsense	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243330591C>T	ClinVar
SDCCAG8	Q86SQ7	p.Arg374Gln	rs553797432	missense variant	-	NC_000001.11:g.243330592G>A	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu375Phe	rs745634199	missense variant	-	NC_000001.11:g.243330594C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu375Ile	rs745634199	missense variant	-	NC_000001.11:g.243330594C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu376Gln	COSM534005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243330597G>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Lys377Glu	rs771921363	missense variant	-	NC_000001.11:g.243330600A>G	ExAC
SDCCAG8	Q86SQ7	p.Glu378Lys	rs1287814651	missense variant	-	NC_000001.11:g.243330603G>A	gnomAD
SDCCAG8	Q86SQ7	p.Glu378Asp	rs2275155	missense variant	-	NC_000001.11:g.243330605A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu378Asp	RCV000319736	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243330605A>T	ClinVar
SDCCAG8	Q86SQ7	p.Glu378Gly	rs1372005151	missense variant	-	NC_000001.11:g.243330604A>G	TOPMed
SDCCAG8	Q86SQ7	p.Glu378Ter	COSM906602	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.243330603G>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Glu378Asp	RCV000608817	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243330605A>T	ClinVar
SDCCAG8	Q86SQ7	p.Glu378Asp	RCV000253187	missense variant	-	NC_000001.11:g.243330605A>T	ClinVar
SDCCAG8	Q86SQ7	p.Glu378Asp	RCV000259930	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243330605A>T	ClinVar
SDCCAG8	Q86SQ7	p.Leu379Ile	rs1235208015	missense variant	-	NC_000001.11:g.243330606C>A	gnomAD
SDCCAG8	Q86SQ7	p.Gln383Ter	rs964673995	stop gained	-	NC_000001.11:g.243330618C>T	TOPMed
SDCCAG8	Q86SQ7	p.Arg386Gly	rs1196764263	missense variant	-	NC_000001.11:g.243330627A>G	gnomAD
SDCCAG8	Q86SQ7	p.Arg386Ser	rs200987365	missense variant	-	NC_000001.11:g.243330629G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg386Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243330628G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ala387Val	rs761327041	missense variant	-	NC_000001.11:g.243330631C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala387Thr	rs776238778	missense variant	-	NC_000001.11:g.243330630G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala387Ter	RCV000291294	frameshift	-	NC_000001.11:g.243330630del	ClinVar
SDCCAG8	Q86SQ7	p.Ile388Asn	rs377237088	missense variant	-	NC_000001.11:g.243330634T>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile388Val	rs764917637	missense variant	-	NC_000001.11:g.243330633A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met392Ile	rs1367586020	missense variant	-	NC_000001.11:g.243330647G>A	gnomAD
SDCCAG8	Q86SQ7	p.Met392Thr	rs1041307493	missense variant	-	NC_000001.11:g.243330646T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met393Val	rs199609539	missense variant	-	NC_000001.11:g.243330648A>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met393Ile	COSM5846027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243330650G>A	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Lys394Ile	rs766904263	missense variant	-	NC_000001.11:g.243330652A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys395Arg	rs752053645	missense variant	-	NC_000001.11:g.243330655A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu396Lys	rs1428852073	missense variant	-	NC_000001.11:g.243330657G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu396Ter	rs1428852073	stop gained	-	NC_000001.11:g.243330657G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr398Met	rs79435766	missense variant	-	NC_000001.11:g.243330664C>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu400Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243330671A>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Arg401Thr	rs561807399	missense variant	-	NC_000001.11:g.243330673G>C	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met404Val	rs1298150302	missense variant	-	NC_000001.11:g.243330681A>G	gnomAD
SDCCAG8	Q86SQ7	p.Gly405Val	rs1049926443	missense variant	-	NC_000001.11:g.243330685G>T	TOPMed
SDCCAG8	Q86SQ7	p.Lys407Glu	rs1479000209	missense variant	-	NC_000001.11:g.243330690A>G	TOPMed
SDCCAG8	Q86SQ7	p.Met408Thr	rs1304569321	missense variant	-	NC_000001.11:g.243341040T>C	gnomAD
SDCCAG8	Q86SQ7	p.Met408Val	rs752002252	missense variant	-	NC_000001.11:g.243341039A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu409Phe	rs1022554259	missense variant	-	NC_000001.11:g.243341044G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu409Ser	COSM906605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243341043T>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Ile410Val	rs755492572	missense variant	-	NC_000001.11:g.243341045A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser412Tyr	rs768039452	missense variant	-	NC_000001.11:g.243341052C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln413Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.243341054C>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ile415Thr	rs753213107	missense variant	-	NC_000001.11:g.243341061T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala416Val	rs1345199314	missense variant	-	NC_000001.11:g.243341064C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln417His	rs530127827	missense variant	-	NC_000001.11:g.243341068A>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln417Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243341067A>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Gln421Arg	rs1254243995	missense variant	-	NC_000001.11:g.243341079A>G	TOPMed
SDCCAG8	Q86SQ7	p.Glu423Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243341084G>A	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu423Asp	rs1245865548	missense variant	-	NC_000001.11:g.243341086A>C	gnomAD
SDCCAG8	Q86SQ7	p.Lys424Asn	rs777728424	missense variant	-	NC_000001.11:g.243341089G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys424Asn	rs777728424	missense variant	-	NC_000001.11:g.243341089G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Val425Ala	rs779777531	missense variant	-	NC_000001.11:g.243341091T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val425Phe	rs370072966	missense variant	-	NC_000001.11:g.243341090G>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val425Ile	rs370072966	missense variant	-	NC_000001.11:g.243341090G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr426Ala	rs201580075	missense variant	-	NC_000001.11:g.243341093A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr426Ala	RCV000438964	missense variant	-	NC_000001.11:g.243341093A>G	ClinVar
SDCCAG8	Q86SQ7	p.Lys427Gln	rs375037219	missense variant	-	NC_000001.11:g.243341096A>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys427Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243341096A>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu428Gly	rs1364309751	missense variant	-	NC_000001.11:g.243341100A>G	gnomAD
SDCCAG8	Q86SQ7	p.Lys429Asn	rs781182231	missense variant	-	NC_000001.11:g.243341104G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser431Leu	rs143386133	missense variant	-	NC_000001.11:g.243341109C>T	ESP,TOPMed
SDCCAG8	Q86SQ7	p.Ser431Ter	rs143386133	stop gained	-	NC_000001.11:g.243341109C>G	ESP,TOPMed
SDCCAG8	Q86SQ7	p.Ser431Ter	COSM906606	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.243341109C>A	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Ile433Val	rs769796315	missense variant	-	NC_000001.11:g.243341114A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile439Val	rs1386762638	missense variant	-	NC_000001.11:g.243341132A>G	gnomAD
SDCCAG8	Q86SQ7	p.Ser441Cys	rs748089367	missense variant	-	NC_000001.11:g.243341138A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala444Thr	rs1465090045	missense variant	-	NC_000001.11:g.243341147G>A	TOPMed
SDCCAG8	Q86SQ7	p.Arg446Gln	rs772853104	missense variant	-	NC_000001.11:g.243341154G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg446Trp	rs769286565	missense variant	-	NC_000001.11:g.243341153C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu447Ter	RCV000000075	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243341156dup	ClinVar
SDCCAG8	Q86SQ7	p.Met448Arg	rs1015302300	missense variant	-	NC_000001.11:g.243341160T>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met448Thr	rs1015302300	missense variant	-	NC_000001.11:g.243341160T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr451Ile	rs762653933	missense variant	-	NC_000001.11:g.243341169C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr451Ala	rs1422587582	missense variant	-	NC_000001.11:g.243341168A>G	TOPMed
SDCCAG8	Q86SQ7	p.Lys452Asn	rs1057515483	missense variant	-	NC_000001.11:g.243341173G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val453Ala	rs777367811	missense variant	-	NC_000001.11:g.243344216T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys454Arg	rs1179852986	missense variant	-	NC_000001.11:g.243344218T>C	gnomAD
SDCCAG8	Q86SQ7	p.Cys454Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243344219G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Gly455Glu	rs1167868774	missense variant	-	NC_000001.11:g.243344222G>A	TOPMed
SDCCAG8	Q86SQ7	p.Glu456Gln	COSM2155613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243344224G>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Met457Lys	rs1250974056	missense variant	-	NC_000001.11:g.243344228T>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg458His	rs748784645	missense variant	-	NC_000001.11:g.243344231G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr459Cys	rs770633078	missense variant	-	NC_000001.11:g.243344234A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr459His	rs1182496392	missense variant	-	NC_000001.11:g.243344233T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr459Ser	rs770633078	missense variant	-	NC_000001.11:g.243344234A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln460His	rs79762798	missense variant	-	NC_000001.11:g.243344238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln460His	RCV000174354	missense variant	-	NC_000001.11:g.243344238G>C	ClinVar
SDCCAG8	Q86SQ7	p.Thr464Asn	rs1182214930	missense variant	-	NC_000001.11:g.243344249C>A	TOPMed
SDCCAG8	Q86SQ7	p.Asn465Ser	rs1479963664	missense variant	-	NC_000001.11:g.243344252A>G	gnomAD
SDCCAG8	Q86SQ7	p.Asn465Lys	rs891013696	missense variant	-	NC_000001.11:g.243344253C>A	TOPMed
SDCCAG8	Q86SQ7	p.Glu470Gly	rs118064970	missense variant	-	NC_000001.11:g.243344267A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu470Gly	RCV000153922	missense variant	-	NC_000001.11:g.243344267A>G	ClinVar
SDCCAG8	Q86SQ7	p.Glu470Ala	COSM1340745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243344267A>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Ala471Ser	rs775752533	missense variant	-	NC_000001.11:g.243344269G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Val	rs1306789578	missense variant	-	NC_000001.11:g.243344273A>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Lys	rs576988620	missense variant	-	NC_000001.11:g.243344272G>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Gly	rs1306789578	missense variant	-	NC_000001.11:g.243344273A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Asp	rs764566581	missense variant	-	NC_000001.11:g.243344274A>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Gln	rs576988620	missense variant	-	NC_000001.11:g.243344272G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu474Ter	RCV000000074	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243344278del	ClinVar
SDCCAG8	Q86SQ7	p.Glu474Ter	RCV000256021	frameshift	-	NC_000001.11:g.243344278del	ClinVar
SDCCAG8	Q86SQ7	p.Glu474Ter	RCV000625956	frameshift	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243344278del	ClinVar
SDCCAG8	Q86SQ7	p.His475Tyr	rs190941099	missense variant	-	NC_000001.11:g.243344281C>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg476Lys	rs761873846	missense variant	-	NC_000001.11:g.243344285G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg476Thr	rs761873846	missense variant	-	NC_000001.11:g.243344285G>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu477Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.243344287G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu477Gln	rs556191085	missense variant	-	NC_000001.11:g.243344287G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg479Thr	rs1328696549	missense variant	-	NC_000001.11:g.243344294G>C	TOPMed
SDCCAG8	Q86SQ7	p.Ala480Val	rs750599032	missense variant	-	NC_000001.11:g.243344297C>T	ExAC
SDCCAG8	Q86SQ7	p.Thr482Ter	RCV000144682	frameshift	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243344302del	ClinVar
SDCCAG8	Q86SQ7	p.Thr482Ter	RCV000727146	frameshift	-	NC_000001.11:g.243344302del	ClinVar
SDCCAG8	Q86SQ7	p.Asp485Gly	rs1273880712	missense variant	-	NC_000001.11:g.243344312A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp485Asn	rs758550495	missense variant	-	NC_000001.11:g.243344311G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ile488Asn	rs917313292	missense variant	-	NC_000001.11:g.243344321T>A	TOPMed
SDCCAG8	Q86SQ7	p.Asp490Asn	rs1422257046	missense variant	-	NC_000001.11:g.243344326G>A	TOPMed
SDCCAG8	Q86SQ7	p.Gln491Glu	rs1485929233	missense variant	-	NC_000001.11:g.243344329C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln491Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243344329C>A	NCI-TCGA
SDCCAG8	Q86SQ7	p.Gln491Arg	COSM2050865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243344330A>G	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Ile493Met	rs1423681895	missense variant	-	NC_000001.11:g.243378726A>G	gnomAD
SDCCAG8	Q86SQ7	p.Glu494Asp	rs1413452795	missense variant	-	NC_000001.11:g.243378729G>T	gnomAD
SDCCAG8	Q86SQ7	p.Glu494Gln	COSM425786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243378727G>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Leu496Trp	rs532817936	missense variant	-	NC_000001.11:g.243378734T>G	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu496Phe	rs1432354431	missense variant	-	NC_000001.11:g.243378735G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg497Thr	rs766487460	missense variant	-	NC_000001.11:g.243378737G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ile498Val	rs765529431	missense variant	-	NC_000001.11:g.243378739A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu500Met	rs750763148	missense variant	-	NC_000001.11:g.243378745C>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu500Pro	rs894233341	missense variant	-	NC_000001.11:g.243378746T>C	TOPMed
SDCCAG8	Q86SQ7	p.Asp501His	rs150646039	missense variant	-	NC_000001.11:g.243378748G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp501His	RCV000193940	missense variant	-	NC_000001.11:g.243378748G>C	ClinVar
SDCCAG8	Q86SQ7	p.Ser503Asn	rs1268810880	missense variant	-	NC_000001.11:g.243378755G>A	gnomAD
SDCCAG8	Q86SQ7	p.Ser503Gly	rs778441055	missense variant	-	NC_000001.11:g.243378754A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln505Glu	rs980791573	missense variant	-	NC_000001.11:g.243378760C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His506Arg	rs745351109	missense variant	-	NC_000001.11:g.243378764A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu507Ser	rs1429020259	missense variant	-	NC_000001.11:g.243378767T>C	TOPMed
SDCCAG8	Q86SQ7	p.Gln509Glu	rs199919586	missense variant	-	NC_000001.11:g.243378772C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln509Glu	RCV000286243	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243378772C>G	ClinVar
SDCCAG8	Q86SQ7	p.Gln509Glu	RCV000327156	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243378772C>G	ClinVar
SDCCAG8	Q86SQ7	p.Gln511Arg	rs1245534369	missense variant	-	NC_000001.11:g.243378779A>G	gnomAD
SDCCAG8	Q86SQ7	p.Gln511Lys	rs1201425131	missense variant	-	NC_000001.11:g.243378778C>A	gnomAD
SDCCAG8	Q86SQ7	p.Gln512His	rs372453555	missense variant	-	NC_000001.11:g.243378783G>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala515Thr	rs200767475	missense variant	-	NC_000001.11:g.243378790G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala517Pro	rs776982179	missense variant	-	NC_000001.11:g.243378796G>C	ExAC
SDCCAG8	Q86SQ7	p.Arg518Gly	rs770306576	missense variant	-	NC_000001.11:g.243378799A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr525Lys	rs999154575	missense variant	-	NC_000001.11:g.243378821C>A	TOPMed
SDCCAG8	Q86SQ7	p.Glu526Ter	RCV000761352	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243378822del	ClinVar
SDCCAG8	Q86SQ7	p.Glu526Gln	rs762911140	missense variant	-	NC_000001.11:g.243378823G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu528Val	rs766547040	missense variant	-	NC_000001.11:g.243378829C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gly529Ala	rs1330485298	missense variant	-	NC_000001.11:g.243378833G>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu530Gln	rs190020173	missense variant	-	NC_000001.11:g.243378835G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu530Lys	rs190020173	missense variant	-	NC_000001.11:g.243378835G>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser531Cys	rs535103313	missense variant	-	NC_000001.11:g.243378839C>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser531Tyr	rs535103313	missense variant	-	NC_000001.11:g.243378839C>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu532Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243378843G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu532Lys	rs753709808	missense variant	-	NC_000001.11:g.243378841G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.His533Tyr	rs945649934	missense variant	-	NC_000001.11:g.243378844C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln534Glu	rs1357294768	missense variant	-	NC_000001.11:g.243378847C>G	gnomAD
SDCCAG8	Q86SQ7	p.Gln534Ter	rs1357294768	stop gained	-	NC_000001.11:g.243378847C>T	gnomAD
SDCCAG8	Q86SQ7	p.His536Tyr	rs1451546982	missense variant	-	NC_000001.11:g.243378853C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His536Pro	rs1228351598	missense variant	-	NC_000001.11:g.243378854A>C	TOPMed
SDCCAG8	Q86SQ7	p.Leu537Arg	rs1032332223	missense variant	-	NC_000001.11:g.243378857T>G	TOPMed
SDCCAG8	Q86SQ7	p.Leu537Val	rs765056637	missense variant	-	NC_000001.11:g.243378856C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr538Ser	rs370441955	missense variant	-	NC_000001.11:g.243378860C>G	ESP
SDCCAG8	Q86SQ7	p.Lys542Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.243415709A>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Asp543Ter	RCV000144681	frameshift	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243415713_243415716del	ClinVar
SDCCAG8	Q86SQ7	p.Ser544Asn	rs1053242816	missense variant	-	NC_000001.11:g.243415716G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser548Arg	rs1297691172	missense variant	-	NC_000001.11:g.243415729C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser548Thr	rs775898129	missense variant	-	NC_000001.11:g.243415728G>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser548Arg	rs1388276184	missense variant	-	NC_000001.11:g.243415727A>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala553Thr	rs891562168	missense variant	-	NC_000001.11:g.243415742G>A	gnomAD
SDCCAG8	Q86SQ7	p.Lys554Gln	rs1406310957	missense variant	-	NC_000001.11:g.243415745A>C	gnomAD
SDCCAG8	Q86SQ7	p.Gln556Pro	rs761699906	missense variant	-	NC_000001.11:g.243415752A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln556Arg	rs761699906	missense variant	-	NC_000001.11:g.243415752A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu558Phe	rs1348962238	missense variant	-	NC_000001.11:g.243415757C>T	TOPMed
SDCCAG8	Q86SQ7	p.Gln559Ter	COSM4821099	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.243415760C>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Gln562Arg	rs765140932	missense variant	-	NC_000001.11:g.243415770A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg563Gly	rs1300220138	missense variant	-	NC_000001.11:g.243415772A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu564Gly	rs762947754	missense variant	-	NC_000001.11:g.243415776A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu564Gln	rs750265815	missense variant	-	NC_000001.11:g.243415775G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu564Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.243415775G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Gln565Arg	rs1257084448	missense variant	-	NC_000001.11:g.243415779A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu566Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243415782A>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu566Lys	rs1483986069	missense variant	-	NC_000001.11:g.243415781G>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu567Val	rs750647231	missense variant	-	NC_000001.11:g.243415784C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr568Ile	rs751089162	missense variant	-	NC_000001.11:g.243415788C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln569Arg	rs752412976	missense variant	-	NC_000001.11:g.243415791A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln569Ter	rs780789700	stop gained	-	NC_000001.11:g.243415790C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys570Arg	rs1448626324	missense variant	-	NC_000001.11:g.243415794A>G	gnomAD
SDCCAG8	Q86SQ7	p.Ile571Leu	rs1176784180	missense variant	-	NC_000001.11:g.243415796A>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln572Arg	rs1363663426	missense variant	-	NC_000001.11:g.243415800A>G	TOPMed
SDCCAG8	Q86SQ7	p.Gln573Pro	rs1381319822	missense variant	-	NC_000001.11:g.243415803A>C	gnomAD
SDCCAG8	Q86SQ7	p.Gln573Ter	RCV000579189	nonsense	-	NC_000001.11:g.243415802C>T	ClinVar
SDCCAG8	Q86SQ7	p.Gln573Ter	rs1286714661	stop gained	-	NC_000001.11:g.243415802C>T	TOPMed
SDCCAG8	Q86SQ7	p.Met574Ile	rs756420930	missense variant	-	NC_000001.11:g.243415807G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met574Ile	COSM6062435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243415807G>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Gln577Pro	rs771493123	missense variant	-	NC_000001.11:g.243415815A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln577Glu	rs749719225	missense variant	-	NC_000001.11:g.243415814C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp579Val	rs745915721	missense variant	-	NC_000001.11:g.243415821A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp579Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243415820G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Asp579Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243415821A>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Lys580Gln	rs772347866	missense variant	-	NC_000001.11:g.243415823A>C	ExAC,TOPMed
SDCCAG8	Q86SQ7	p.Lys580Glu	rs772347866	missense variant	-	NC_000001.11:g.243415823A>G	ExAC,TOPMed
SDCCAG8	Q86SQ7	p.Thr581SerTerGlnLeuAsnAsn	NCI-TCGA novel	stop gained	-	NC_000001.11:g.243415827_243415828insATCATAACAACTAAATAA	NCI-TCGA
SDCCAG8	Q86SQ7	p.Asn583Lys	COSM464246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243417972T>A	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Glu584Lys	rs150961792	missense variant	-	NC_000001.11:g.243417973G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu584Ala	rs757605519	missense variant	-	NC_000001.11:g.243417974A>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Tyr586Cys	rs1195615970	missense variant	-	NC_000001.11:g.243417980A>G	TOPMed
SDCCAG8	Q86SQ7	p.Tyr586Asn	rs542690685	missense variant	-	NC_000001.11:g.243417979T>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr590Ala	rs780281311	missense variant	-	NC_000001.11:g.243417991A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln592Lys	rs1444038152	missense variant	-	NC_000001.11:g.243417997C>A	TOPMed
SDCCAG8	Q86SQ7	p.Thr594Ala	rs768941321	missense variant	-	NC_000001.11:g.243418003A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Phe595Val	rs776765317	missense variant	-	NC_000001.11:g.243418006T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Phe595Val	RCV000784982	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243418006T>G	ClinVar
SDCCAG8	Q86SQ7	p.Phe595Val	RCV000784981	missense variant	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243418006T>G	ClinVar
SDCCAG8	Q86SQ7	p.Phe595Val	RCV000790917	missense variant	-	NC_000001.11:g.243418006T>G	ClinVar
SDCCAG8	Q86SQ7	p.Thr597Lys	rs372641187	missense variant	-	NC_000001.11:g.243418013C>A	ESP,ExAC
SDCCAG8	Q86SQ7	p.Thr597Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243418012A>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Leu599Phe	rs1411144910	missense variant	-	NC_000001.11:g.243418020A>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu601Asp	rs1199896922	missense variant	-	NC_000001.11:g.243418026A>C	TOPMed
SDCCAG8	Q86SQ7	p.Glu602Lys	rs770778500	missense variant	-	NC_000001.11:g.243418027G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys603Phe	rs774257632	missense variant	-	NC_000001.11:g.243418031G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Cys604Tyr	rs759482577	missense variant	-	NC_000001.11:g.243418034G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr605Ile	rs766975053	missense variant	-	NC_000001.11:g.243418037C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr605Ala	COSM906608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243418036A>G	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Lys608Arg	rs760154232	missense variant	-	NC_000001.11:g.243418046A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu610Pro	rs1285146744	missense variant	-	NC_000001.11:g.243418052T>C	TOPMed
SDCCAG8	Q86SQ7	p.Gln612Lys	rs757630709	missense variant	-	NC_000001.11:g.243418057C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr617Asn	rs528435621	missense variant	-	NC_000001.11:g.243418073C>A	1000Genomes
SDCCAG8	Q86SQ7	p.Ser619Tyr	rs145896729	missense variant	-	NC_000001.11:g.243426429C>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu620Gly	rs1397205149	missense variant	-	NC_000001.11:g.243426432A>G	TOPMed
SDCCAG8	Q86SQ7	p.Ala622Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243426437G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ala622Val	rs760231013	missense variant	-	NC_000001.11:g.243426438C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln623Arg	rs768111847	missense variant	-	NC_000001.11:g.243426441A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu624Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243426443C>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ser625Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243426446A>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Gln626Lys	rs776293737	missense variant	-	NC_000001.11:g.243426449C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu627Val	rs1410019812	missense variant	-	NC_000001.11:g.243426453A>T	gnomAD
SDCCAG8	Q86SQ7	p.Arg629Ser	rs765653727	missense variant	-	NC_000001.11:g.243426460G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg629Met	rs548855151	missense variant	-	NC_000001.11:g.243426459G>T	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg629Thr	rs548855151	missense variant	-	NC_000001.11:g.243426459G>C	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Tyr630His	rs138187640	missense variant	-	NC_000001.11:g.243426461T>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr631Ile	rs565662622	missense variant	-	NC_000001.11:g.243426465C>T	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp633Gly	rs1330860751	missense variant	-	NC_000001.11:g.243426471A>G	gnomAD
SDCCAG8	Q86SQ7	p.Asp633Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243426470G>A	NCI-TCGA
SDCCAG8	Q86SQ7	p.Asp633His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243426470G>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Lys634Glu	rs1333905735	missense variant	-	NC_000001.11:g.243426473A>G	gnomAD
SDCCAG8	Q86SQ7	p.Lys634Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243426474A>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Leu638Ser	rs752896885	missense variant	-	NC_000001.11:g.243426486T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg641Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243426495G>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Arg641Ile	COSM906610	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243426495G>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Asn642Asp	rs1012914757	missense variant	-	NC_000001.11:g.243426497A>G	gnomAD
SDCCAG8	Q86SQ7	p.Glu644Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243426505A>C	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu644Gly	rs1441286815	missense variant	-	NC_000001.11:g.243426504A>G	gnomAD
SDCCAG8	Q86SQ7	p.Leu645Met	rs181033600	missense variant	-	NC_000001.11:g.243426506T>A	1000Genomes
SDCCAG8	Q86SQ7	p.Leu645Phe	rs185944691	missense variant	-	NC_000001.11:g.243426508G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu647Val	rs1289275011	missense variant	-	NC_000001.11:g.243426513A>T	gnomAD
SDCCAG8	Q86SQ7	p.Glu647Lys	rs1222947634	missense variant	-	NC_000001.11:g.243426512G>A	gnomAD
SDCCAG8	Q86SQ7	p.Gln648Ter	rs367572249	stop gained	-	NC_000001.11:g.243426515C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys649Arg	rs371805116	missense variant	-	NC_000001.11:g.243426518T>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys649Ter	RCV000000076	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243426517_243426518GT[1]	ClinVar
SDCCAG8	Q86SQ7	p.His652Arg	rs746505992	missense variant	-	NC_000001.11:g.243426528A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gly653Glu	rs1452709438	missense variant	-	NC_000001.11:g.243426531G>A	gnomAD
SDCCAG8	Q86SQ7	p.Arg654Ser	rs1479850463	missense variant	-	NC_000001.11:g.243426535A>C	gnomAD
SDCCAG8	Q86SQ7	p.Arg654Gly	rs1267378140	missense variant	-	NC_000001.11:g.243426533A>G	gnomAD
SDCCAG8	Q86SQ7	p.Val655Ile	RCV000261879	missense variant	-	NC_000001.11:g.243426536G>A	ClinVar
SDCCAG8	Q86SQ7	p.Val655Glu	rs1415587153	missense variant	-	NC_000001.11:g.243426537T>A	TOPMed
SDCCAG8	Q86SQ7	p.Val655Ile	rs776040834	missense variant	-	NC_000001.11:g.243426536G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His656Arg	rs761503701	missense variant	-	NC_000001.11:g.243426540A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His656Asn	rs1262692904	missense variant	-	NC_000001.11:g.243426539C>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His656Tyr	rs1262692904	missense variant	-	NC_000001.11:g.243426539C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His656Leu	rs761503701	missense variant	-	NC_000001.11:g.243426540A>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu657Ala	rs1157794544	missense variant	-	NC_000001.11:g.243426543A>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu657Lys	rs773035864	missense variant	-	NC_000001.11:g.243426542G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu657Gly	COSM1560734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243426543A>G	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Thr658Met	RCV000351823	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243426546C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr658Met	RCV000292253	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243426546C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr658Met	rs1057515530	missense variant	-	NC_000001.11:g.243426546C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met659Thr	rs375244541	missense variant	-	NC_000001.11:g.243426549T>C	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met659Val	rs537214737	missense variant	-	NC_000001.11:g.243426548A>G	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys660Gln	rs141230462	missense variant	-	NC_000001.11:g.243426551A>C	ESP,TOPMed
SDCCAG8	Q86SQ7	p.Leu663Ile	rs751286389	missense variant	-	NC_000001.11:g.243489015C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys668Glu	rs1446535595	missense variant	-	NC_000001.11:g.243489030A>G	TOPMed
SDCCAG8	Q86SQ7	p.His669Gln	rs1336926482	missense variant	-	NC_000001.11:g.243489035C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser670Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243489037G>A	NCI-TCGA
SDCCAG8	Q86SQ7	p.Ala672Thr	rs1326176310	missense variant	-	NC_000001.11:g.243489042G>A	TOPMed
SDCCAG8	Q86SQ7	p.Ala674Val	rs1256449972	missense variant	-	NC_000001.11:g.243489049C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln675Arg	rs748157088	missense variant	-	NC_000001.11:g.243489052A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln676Glu	rs1242245359	missense variant	-	NC_000001.11:g.243489054C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln676His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243489056G>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Leu677Val	COSM6125572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243489057C>G	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Val678Leu	rs755629522	missense variant	-	NC_000001.11:g.243489060G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val678Met	rs755629522	missense variant	-	NC_000001.11:g.243489060G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln679Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243489064A>T	NCI-TCGA
SDCCAG8	Q86SQ7	p.Gln679Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243489064A>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Asn685Thr	rs1365519418	missense variant	-	NC_000001.11:g.243489082A>C	TOPMed
SDCCAG8	Q86SQ7	p.Leu689Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243489094T>A	NCI-TCGA
SDCCAG8	Q86SQ7	p.Arg691Lys	rs1334951618	missense variant	-	NC_000001.11:g.243489100G>A	gnomAD
SDCCAG8	Q86SQ7	p.Arg691Thr	COSM4844104	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243489100G>C	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Gln692Arg	rs1367234572	missense variant	-	NC_000001.11:g.243489103A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln692Ter	rs770511642	stop gained	-	NC_000001.11:g.243489102C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser693Asn	rs1205844381	missense variant	-	NC_000001.11:g.243489106G>A	TOPMed
SDCCAG8	Q86SQ7	p.Ser693Ile	COSM6062433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.243489106G>T	NCI-TCGA Cosmic
SDCCAG8	Q86SQ7	p.Leu694Pro	rs774092854	missense variant	-	NC_000001.11:g.243489109T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser695Trp	rs746212924	missense variant	-	NC_000001.11:g.243489112C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu697Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243489117G>A	NCI-TCGA
SDCCAG8	Q86SQ7	p.Glu697Asp	rs978082572	missense variant	-	NC_000001.11:g.243489119G>T	gnomAD
SDCCAG8	Q86SQ7	p.Arg700Gln	rs761172746	missense variant	-	NC_000001.11:g.243489127G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg700Pro	rs761172746	missense variant	-	NC_000001.11:g.243489127G>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg700Trp	rs369591883	missense variant	-	NC_000001.11:g.243489126C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg702Trp	rs182859748	missense variant	-	NC_000001.11:g.243489132C>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr703Ile	rs368583241	missense variant	-	NC_000001.11:g.243489136C>T	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu705Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.243499756T>G	NCI-TCGA
SDCCAG8	Q86SQ7	p.Met708Val	rs778488043	missense variant	-	NC_000001.11:g.243499765A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Pro709Leu	rs1489827909	missense variant	-	NC_000001.11:g.243499769C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln710Ter	rs750000450	stop gained	-	NC_000001.11:g.243499771C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.SerAspCys711SerAspTerLeuUnk	rs1474766803	stop gained	-	NC_000001.11:g.243499781_243499782insATTG	gnomAD
SDCCAG8	Q86SQ7	p.Ser4Tyr	rs756729603	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256184C>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser4Thr	rs1271164856	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256183T>A	gnomAD
SDCCAG8	Q86SQ7	p.Ser4Phe	rs756729603	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256184C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro5Ser	rs780396877	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256186C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro5Leu	rs747363592	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256187C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu6Gln	rs1201744229	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256189G>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu6Lys	rs1201744229	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256189G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn7Asp	rs769155506	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256192A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asn7Ser	rs777253071	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256193A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser8Cys	rs545810276	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256196C>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser8Tyr	rs545810276	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256196C>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser8Pro	rs1193390013	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256195T>C	gnomAD
SDCCAG8	Q86SQ7	p.Thr9Ala	rs1476678988	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256198A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu11Gln	rs773442925	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256204G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu11Val	rs1174426189	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256205A>T	gnomAD
SDCCAG8	Q86SQ7	p.Ile13Met	rs1330731802	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256212T>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile13Phe	rs763172123	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256210A>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu14Met	rs1298963706	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256213C>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu14Pro	rs1362864982	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256214T>C	gnomAD
SDCCAG8	Q86SQ7	p.Gln16Ter	rs1270412613	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243256219C>T	TOPMed
SDCCAG8	Q86SQ7	p.Gln16His	rs1398602761	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256221G>T	gnomAD
SDCCAG8	Q86SQ7	p.Tyr17Asp	rs766544254	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256222T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser20Asn	rs1236044973	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256232G>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu21Pro	rs760366880	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256235T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu21Arg	rs760366880	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256235T>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg22Pro	rs757244638	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256238G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg22Trp	rs753770267	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256237C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg22Gln	rs757244638	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256238G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu23Lys	rs941604656	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243256240G>A	TOPMed
SDCCAG8	Q86SQ7	p.Glu23Ter	rs941604656	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243256240G>T	TOPMed
SDCCAG8	Q86SQ7	p.Ser26Asn	rs749885268	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270114G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser26Gly	rs1179385721	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270113A>G	gnomAD
SDCCAG8	Q86SQ7	p.Ile29Val	rs1158230245	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270122A>G	gnomAD
SDCCAG8	Q86SQ7	p.Cys34Phe	rs1353035363	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270138G>T	TOPMed
SDCCAG8	Q86SQ7	p.Cys34Trp	rs754715125	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270139T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala35Thr	rs781638035	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270140G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu38Lys	rs753147253	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270149G>A	ExAC
SDCCAG8	Q86SQ7	p.Gly39Ser	rs756642876	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270152G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp40Asn	rs202114636	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270155G>A	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr42Ser	rs770913941	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270162C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ile43Val	rs554498906	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270164A>G	gnomAD
SDCCAG8	Q86SQ7	p.Glu45Val	rs779107589	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270171A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu45Gly	rs779107589	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270171A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp46Val	rs746020647	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270174A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asn49Ser	rs772285144	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270183A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser53Arg	rs776370459	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270196C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr54Ser	rs761616528	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270197A>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr54Ile	rs769624417	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270198C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser55Ile	rs1257193759	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270201G>T	gnomAD
SDCCAG8	Q86SQ7	p.Asn58Lys	rs368801248	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270211T>A	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala61Pro	rs149928402	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270218G>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala61Asp	rs1466620787	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270219C>A	gnomAD
SDCCAG8	Q86SQ7	p.Ala61Ser	rs149928402	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270218G>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala61Thr	rs149928402	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270218G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala61Val	rs1466620787	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270219C>T	gnomAD
SDCCAG8	Q86SQ7	p.Ala64Thr	rs1171124979	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270227G>A	gnomAD
SDCCAG8	Q86SQ7	p.Ala64Val	rs573336252	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270228C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro66Ser	rs1380947147	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270233C>T	gnomAD
SDCCAG8	Q86SQ7	p.Glu67Asp	rs929473088	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270238A>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu67Lys	rs756518004	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270236G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu68Ile	rs778351444	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270239T>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu68Val	rs778351444	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270239T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Val74Gly	rs757663061	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270978T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln76Arg	rs1327638045	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270984A>G	TOPMed
SDCCAG8	Q86SQ7	p.Lys78Glu	rs765793486	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270989A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys78Arg	rs750977682	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270990A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp79Glu	rs146474568	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270994T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp79Glu	RCV000532918	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243270994T>A	ClinVar
SDCCAG8	Q86SQ7	p.Asp79Glu	RCV000365007	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243270994T>A	ClinVar
SDCCAG8	Q86SQ7	p.Asp79Glu	RCV000310366	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243270994T>A	ClinVar
SDCCAG8	Q86SQ7	p.Leu80Val	rs1384864639	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270995T>G	TOPMed
SDCCAG8	Q86SQ7	p.Leu80Phe	rs747215236	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243270997G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg82Cys	rs143447584	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271001C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg82Leu	rs577345357	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271002G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg82His	rs577345357	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271002G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg82Cys	RCV000436103	missense variant	-	NC_000001.11:g.243271001C>T	ClinVar
SDCCAG8	Q86SQ7	p.Gln84Lys	rs201658593	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271007C>A	1000Genomes
SDCCAG8	Q86SQ7	p.Lys87Glu	rs1479508693	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271016A>G	TOPMed
SDCCAG8	Q86SQ7	p.Glu88Gly	rs770685116	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271020A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu88Ala	rs770685116	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271020A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu90Gly	rs949394710	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271026A>G	TOPMed
SDCCAG8	Q86SQ7	p.Pro93Leu	rs140413256	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271035C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro93Arg	rs140413256	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271035C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Pro93Leu	RCV000389243	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243271035C>T	ClinVar
SDCCAG8	Q86SQ7	p.Pro93Leu	RCV000276217	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243271035C>T	ClinVar
SDCCAG8	Q86SQ7	p.Pro93Ser	rs1284369812	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271034C>T	gnomAD
SDCCAG8	Q86SQ7	p.Pro93Gln	rs140413256	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271035C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser94Thr	rs776810375	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271037T>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg95Gly	rs377564587	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271040A>G	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys98Gln	rs750921444	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271049A>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met99Ile	rs193291617	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271054G>A	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Pro101Leu	rs371182563	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271059C>T	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Pro101His	rs371182563	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243271059C>A	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg103Ser	rs1401145435	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274545G>T	gnomAD
SDCCAG8	Q86SQ7	p.Arg103Gly	rs773575477	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274543A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu106Gly	rs1467303373	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274553A>G	gnomAD
SDCCAG8	Q86SQ7	p.His107Gln	rs766899717	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274557T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu109Gly	rs752112426	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274562A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr110Asn	rs1286341336	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274565C>A	gnomAD
SDCCAG8	Q86SQ7	p.Thr110Ala	rs1448996546	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274564A>G	gnomAD
SDCCAG8	Q86SQ7	p.Asn111Tyr	rs759634630	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274567A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asn111Asp	rs759634630	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274567A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met112Val	rs1391638572	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274570A>G	TOPMed
SDCCAG8	Q86SQ7	p.Met112Ile	rs767563520	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274572G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp117Ala	rs149561407	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274586A>C	ESP,ExAC
SDCCAG8	Q86SQ7	p.Asp117Asn	rs913322544	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274585G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His120Arg	rs778785206	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274595A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile122Thr	rs758051187	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274601T>C	gnomAD
SDCCAG8	Q86SQ7	p.Ile122Val	rs377473337	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274600A>G	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp124Gly	rs1484553079	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274607A>G	TOPMed
SDCCAG8	Q86SQ7	p.Gln125His	rs780115638	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274611G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln125Ter	rs977933821	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243274609C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His131Asn	rs1379400598	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274627C>A	gnomAD
SDCCAG8	Q86SQ7	p.His131Arg	rs746959035	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274628A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu132Ser	rs1166274752	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274631T>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu133Lys	rs768207230	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274633G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu133Ter	rs768207230	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243274633G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala134Thr	rs1336327972	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274636G>A	gnomAD
SDCCAG8	Q86SQ7	p.Ala134Val	rs780621104	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274637C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu135Val	rs747774826	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274640A>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu135Ter	rs1405261323	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243274639G>T	TOPMed
SDCCAG8	Q86SQ7	p.Glu135Lys	rs1405261323	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274639G>A	TOPMed
SDCCAG8	Q86SQ7	p.Cys139Arg	rs769333887	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274651T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys139Tyr	rs773522256	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274652G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys139Phe	rs773522256	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274652G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys140Asn	rs763284045	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243274656G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu143Val	rs371179612	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286278C>G	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu143Ile	rs371179612	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286278C>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser144Ala	rs749010399	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286281T>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser144Phe	rs1453249734	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286282C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gly145Arg	rs1251166857	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286284G>A	gnomAD
SDCCAG8	Q86SQ7	p.Ile150Thr	rs1454024385	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286300T>C	gnomAD
SDCCAG8	Q86SQ7	p.Val152Ile	rs374580113	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286305G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val153Leu	rs1382571163	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286308G>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu158Lys	rs367590060	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286323G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln161Ter	RCV000193333	nonsense	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243286332C>T	ClinVar
SDCCAG8	Q86SQ7	p.Gln161Ter	rs797045947	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243286332C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln162Leu	rs1369558546	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286336A>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln162Glu	rs760647221	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286335C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser166Cys	rs776989165	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286348C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln167Arg	rs1437289653	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286351A>G	TOPMed
SDCCAG8	Q86SQ7	p.Glu171Ter	rs1160995964	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243286362G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu173Pro	rs541533278	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286369T>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu173Pro	RCV000652118	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243286369T>C	ClinVar
SDCCAG8	Q86SQ7	p.Arg174Lys	rs368200875	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286372G>A	ESP,gnomAD
SDCCAG8	Q86SQ7	p.Glu175Ter	rs767375284	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243286374G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu175Lys	rs767375284	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286374G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu178Pro	rs773249871	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286384T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala181Val	rs372403021	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243286393C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gly183Arg	rs1370803511	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293091G>C	gnomAD
SDCCAG8	Q86SQ7	p.Met185Val	rs752567022	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293097A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.His186Arg	rs144254594	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293101A>G	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His186Pro	rs144254594	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293101A>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn187Ser	rs185077992	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293104A>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Trp189Ter	RCV000194004	nonsense	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243293111G>A	ClinVar
SDCCAG8	Q86SQ7	p.Ile190Phe	rs753378200	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293112A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr191Ile	rs150070966	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293116C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr191Ile	RCV000342454	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243293116C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr191Ile	RCV000763845	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243293116C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr191Ile	RCV000399034	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243293116C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr191Ile	RCV000522463	missense variant	-	NC_000001.11:g.243293116C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr192Ile	rs1297852135	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293119C>T	gnomAD
SDCCAG8	Q86SQ7	p.Thr192Ala	rs1003029505	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293118A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gly193Ala	rs750128305	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293122G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gly193Val	rs750128305	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293122G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu194Gln	rs1256869625	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293124G>C	gnomAD
SDCCAG8	Q86SQ7	p.Asp195Val	rs780525378	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293128A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser196Tyr	rs1279083657	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293131C>A	gnomAD
SDCCAG8	Q86SQ7	p.Val198Met	rs747460316	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293136G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu200Lys	rs748257473	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293142G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr201Ile	rs1427470090	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293146C>T	gnomAD
SDCCAG8	Q86SQ7	p.Thr201Ala	rs769963982	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293145A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys203Arg	rs1176153899	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293152A>G	gnomAD
SDCCAG8	Q86SQ7	p.Lys203Glu	rs1456606708	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293151A>G	TOPMed
SDCCAG8	Q86SQ7	p.Pro205Arg	rs1365716923	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293158C>G	TOPMed
SDCCAG8	Q86SQ7	p.Phe206Ser	rs1379052420	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293161T>C	gnomAD
SDCCAG8	Q86SQ7	p.Ser207Phe	rs1182767716	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293164C>T	TOPMed
SDCCAG8	Q86SQ7	p.Ser207Pro	rs773304620	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293163T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.His208Arg	rs763297129	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293167A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn210Ser	rs775273268	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293173A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala211Val	rs1286985966	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293176C>T	gnomAD
SDCCAG8	Q86SQ7	p.Ala211Gly	rs1286985966	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293176C>G	gnomAD
SDCCAG8	Q86SQ7	p.Asp212His	rs760565857	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293178G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys215Glu	rs764042433	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293187A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala216Val	rs1350385738	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293191C>T	gnomAD
SDCCAG8	Q86SQ7	p.Ala216Thr	rs753823148	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293190G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala217Thr	rs1272334660	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293193G>A	TOPMed
SDCCAG8	Q86SQ7	p.Ser218Tyr	rs761283265	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293197C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu221Gly	rs900949463	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293206A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu221Lys	rs373999051	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293205G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln222His	rs1470059477	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243293210G>T	gnomAD
SDCCAG8	Q86SQ7	p.Lys227Ter	RCV000000078	nonsense	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243304716A>T	ClinVar
SDCCAG8	Q86SQ7	p.Lys227Ter	rs267607031	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243304716A>T	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu228Pro	rs776422346	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304720T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu228Val	rs768424996	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304719C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr232Ter	rs772544112	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243304733T>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr232Phe	rs747968552	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304732A>T	ExAC,TOPMed
SDCCAG8	Q86SQ7	p.Tyr232Ser	rs747968552	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304732A>C	ExAC,TOPMed
SDCCAG8	Q86SQ7	p.Glu233Gln	rs1175941103	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304734G>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu234Lys	rs902664548	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304737G>A	gnomAD
SDCCAG8	Q86SQ7	p.Cys236Tyr	rs1299404653	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304744G>A	gnomAD
SDCCAG8	Q86SQ7	p.Glu237Gly	rs766024310	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304747A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu240Lys	rs774139674	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304755G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser241Tyr	rs767930611	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304759C>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser241Phe	rs767930611	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304759C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser241Pro	rs759278534	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304758T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln242Arg	rs923218609	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304762A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys244Arg	rs754344258	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243304768A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp249Asn	rs757829748	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243307993G>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu250Ser	rs1357310997	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243307997T>C	gnomAD
SDCCAG8	Q86SQ7	p.Gln254Arg	rs958074911	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308009A>G	TOPMed
SDCCAG8	Q86SQ7	p.Glu258Lys	rs771025288	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308020G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu260Val	RCV000504492	missense variant	-	NC_000001.11:g.243308026C>G	ClinVar
SDCCAG8	Q86SQ7	p.Leu260Val	RCV000704873	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243308026C>G	ClinVar
SDCCAG8	Q86SQ7	p.Leu260Val	rs201869920	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308026C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu262Gln	rs149038104	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308032G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu262Ter	rs149038104	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243308032G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His266Pro	rs1337665597	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308045A>C	gnomAD
SDCCAG8	Q86SQ7	p.Lys267Ter	RCV000680221	nonsense	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243308047A>T	ClinVar
SDCCAG8	Q86SQ7	p.Glu268Ala	rs1353587245	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308051A>C	TOPMed
SDCCAG8	Q86SQ7	p.Ala272Asp	rs760305679	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308063C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala272Val	rs760305679	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308063C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg278His	rs200657425	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308081G>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg278Ser	rs769004589	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308080C>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg278Cys	rs769004589	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308080C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg278Leu	rs200657425	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308081G>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val279Ala	rs1428655766	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308084T>C	gnomAD
SDCCAG8	Q86SQ7	p.Gly281Asp	rs765751496	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308090G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gly281Ser	rs762264766	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308089G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu282Arg	rs1387290886	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308093T>G	TOPMed
SDCCAG8	Q86SQ7	p.Cys286Ser	rs762988087	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308104T>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Cys286Arg	rs762988087	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308104T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln288Glu	rs766435425	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308110C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.His289Arg	rs147807589	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308114A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His289Tyr	rs550235853	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308113C>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val292Leu	rs777585788	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308122G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu293Val	rs753709683	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308125C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.His297Arg	rs1267318794	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308138A>G	gnomAD
SDCCAG8	Q86SQ7	p.His297Tyr	rs1245691393	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308137C>T	gnomAD
SDCCAG8	Q86SQ7	p.Thr298Ser	rs757167654	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308141C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr298Ala	rs1227898297	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308140A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn299Asp	rs778967078	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308143A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn299Ser	rs1376840501	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308144A>G	TOPMed
SDCCAG8	Q86SQ7	p.Val300Asp	rs745871095	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308147T>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met302Val	rs1187785931	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308152A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met302Leu	rs1187785931	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308152A>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln303Leu	rs779445385	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308156A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln303Lys	rs555358582	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308155C>A	1000Genomes,gnomAD
SDCCAG8	Q86SQ7	p.Ile305Val	rs200447734	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308161A>G	gnomAD
SDCCAG8	Q86SQ7	p.Glu306Lys	rs777002036	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308164G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu306Lys	RCV000531568	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243308164G>A	ClinVar
SDCCAG8	Q86SQ7	p.Glu306Asp	rs770183847	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308166A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu306Gly	rs534097517	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308165A>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val309Ile	rs149359674	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308173G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val309Ile	RCV000180303	missense variant	-	NC_000001.11:g.243308173G>A	ClinVar
SDCCAG8	Q86SQ7	p.Val309Phe	rs149359674	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243308173G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg312Gly	rs767707839	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316759A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu315Ser	rs200294385	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316769T>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met316Thr	rs200461035	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316772T>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser317Phe	rs368258515	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316775C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val322Ile	RCV000242555	missense variant	-	NC_000001.11:g.243316789G>A	ClinVar
SDCCAG8	Q86SQ7	p.Val322Ile	rs6672843	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316789G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg323Lys	rs576672580	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316793G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser324Gly	rs780738331	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316795A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser325Arg	rs747505682	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316800C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala327Ser	rs1400898116	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316804G>T	TOPMed
SDCCAG8	Q86SQ7	p.Thr329Met	RCV000314190	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243316811C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr329Met	rs35859404	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316811C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr329Met	RCV000355058	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243316811C>T	ClinVar
SDCCAG8	Q86SQ7	p.Gln331Leu	rs749594870	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316817A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln331His	rs771368318	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316818A>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu333Lys	rs746449124	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316822G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser335Arg	rs535395368	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316828A>C	1000Genomes,gnomAD
SDCCAG8	Q86SQ7	p.Ala336Thr	rs1380907511	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316831G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr337Cys	rs771991355	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316835A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu338Gln	rs1431330757	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316837G>C	TOPMed
SDCCAG8	Q86SQ7	p.Val340Leu	rs1308863502	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316843G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys341Thr	rs145984257	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316847A>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val343Gly	rs951295161	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316853T>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val343Ala	rs951295161	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316853T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val343Ile	rs760942783	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316852G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser347Thr	rs1255301286	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316864T>A	gnomAD
SDCCAG8	Q86SQ7	p.Ala350Asp	rs1471887962	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316874C>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn351Ser	rs1162706145	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316877A>G	gnomAD
SDCCAG8	Q86SQ7	p.Thr355Asn	RCV000494217	missense variant	-	NC_000001.11:g.243316889C>A	ClinVar
SDCCAG8	Q86SQ7	p.Thr355Asn	rs199524638	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243316889C>A	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln360Pro	rs1281285070	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330550A>C	gnomAD
SDCCAG8	Q86SQ7	p.Gln363Ter	rs756942820	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330558C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu364Phe	rs779109082	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330563G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu364Met	rs1469099766	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330561T>A	gnomAD
SDCCAG8	Q86SQ7	p.Arg365Lys	RCV000173825	missense variant	-	NC_000001.11:g.243330565G>A	ClinVar
SDCCAG8	Q86SQ7	p.Arg365Lys	RCV000420793	missense variant	-	NC_000001.11:g.243330565G>A	ClinVar
SDCCAG8	Q86SQ7	p.Arg365Lys	rs115098969	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330565G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg365Thr	rs115098969	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330565G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg365Lys	RCV000652119	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243330565G>A	ClinVar
SDCCAG8	Q86SQ7	p.Arg365Thr	RCV000500792	missense variant	-	NC_000001.11:g.243330565G>C	ClinVar
SDCCAG8	Q86SQ7	p.Glu367Lys	rs780671703	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330570G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu369Asp	rs747582764	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330578G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg370Gly	rs968349091	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330579A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg370Lys	rs1471866292	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330580G>A	gnomAD
SDCCAG8	Q86SQ7	p.Gln371Ter	rs1157809049	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330582C>T	gnomAD
SDCCAG8	Q86SQ7	p.Ala372Val	rs74701277	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330586C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala372Gly	rs74701277	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330586C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala372Thr	rs1273633593	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330585G>A	TOPMed
SDCCAG8	Q86SQ7	p.Glu373Lys	rs1161158288	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330588G>A	gnomAD
SDCCAG8	Q86SQ7	p.Glu373Gly	rs74579482	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330589A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg374Gly	rs770084716	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330591C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg374Gln	rs553797432	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330592G>A	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg374Ter	RCV000785890	nonsense	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243330591C>T	ClinVar
SDCCAG8	Q86SQ7	p.Arg374Ter	rs770084716	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330591C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu375Phe	rs745634199	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330594C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu375Ile	rs745634199	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330594C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys377Glu	rs771921363	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330600A>G	ExAC
SDCCAG8	Q86SQ7	p.Glu378Asp	RCV000253187	missense variant	-	NC_000001.11:g.243330605A>T	ClinVar
SDCCAG8	Q86SQ7	p.Glu378Asp	RCV000259930	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243330605A>T	ClinVar
SDCCAG8	Q86SQ7	p.Glu378Asp	rs2275155	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330605A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu378Asp	RCV000319736	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243330605A>T	ClinVar
SDCCAG8	Q86SQ7	p.Glu378Asp	RCV000608817	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243330605A>T	ClinVar
SDCCAG8	Q86SQ7	p.Glu378Gly	rs1372005151	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330604A>G	TOPMed
SDCCAG8	Q86SQ7	p.Glu378Lys	rs1287814651	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330603G>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu379Ile	rs1235208015	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330606C>A	gnomAD
SDCCAG8	Q86SQ7	p.Gln383Ter	rs964673995	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330618C>T	TOPMed
SDCCAG8	Q86SQ7	p.Arg386Ser	rs200987365	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330629G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg386Gly	rs1196764263	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330627A>G	gnomAD
SDCCAG8	Q86SQ7	p.Ala387Val	rs761327041	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330631C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala387Thr	rs776238778	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330630G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala387Ter	RCV000291294	frameshift	-	NC_000001.11:g.243330630del	ClinVar
SDCCAG8	Q86SQ7	p.Ile388Val	rs764917637	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330633A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ile388Asn	rs377237088	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330634T>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met392Ile	rs1367586020	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330647G>A	gnomAD
SDCCAG8	Q86SQ7	p.Met392Thr	rs1041307493	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330646T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met393Val	rs199609539	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330648A>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys394Ile	rs766904263	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330652A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys395Arg	rs752053645	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330655A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu396Lys	rs1428852073	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330657G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu396Ter	rs1428852073	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243330657G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr398Met	rs79435766	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330664C>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg401Thr	rs561807399	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330673G>C	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met404Val	rs1298150302	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330681A>G	gnomAD
SDCCAG8	Q86SQ7	p.Gly405Val	rs1049926443	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330685G>T	TOPMed
SDCCAG8	Q86SQ7	p.Lys407Glu	rs1479000209	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243330690A>G	TOPMed
SDCCAG8	Q86SQ7	p.Met408Thr	rs1304569321	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341040T>C	gnomAD
SDCCAG8	Q86SQ7	p.Met408Val	rs752002252	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341039A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu409Phe	rs1022554259	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341044G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile410Val	rs755492572	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341045A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser412Tyr	rs768039452	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341052C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ile415Thr	rs753213107	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341061T>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala416Val	rs1345199314	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341064C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln417His	rs530127827	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341068A>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln421Arg	rs1254243995	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341079A>G	TOPMed
SDCCAG8	Q86SQ7	p.Glu423Asp	rs1245865548	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341086A>C	gnomAD
SDCCAG8	Q86SQ7	p.Lys424Asn	rs777728424	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341089G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys424Asn	rs777728424	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341089G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Val425Phe	rs370072966	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341090G>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val425Ile	rs370072966	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341090G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val425Ala	rs779777531	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341091T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr426Ala	RCV000438964	missense variant	-	NC_000001.11:g.243341093A>G	ClinVar
SDCCAG8	Q86SQ7	p.Thr426Ala	rs201580075	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341093A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Lys427Gln	rs375037219	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341096A>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu428Gly	rs1364309751	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341100A>G	gnomAD
SDCCAG8	Q86SQ7	p.Lys429Asn	rs781182231	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341104G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ser431Leu	rs143386133	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341109C>T	ESP,TOPMed
SDCCAG8	Q86SQ7	p.Ser431Ter	rs143386133	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243341109C>G	ESP,TOPMed
SDCCAG8	Q86SQ7	p.Ile433Val	rs769796315	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341114A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile439Val	rs1386762638	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341132A>G	gnomAD
SDCCAG8	Q86SQ7	p.Ser441Cys	rs748089367	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341138A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala444Thr	rs1465090045	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341147G>A	TOPMed
SDCCAG8	Q86SQ7	p.Arg446Trp	rs769286565	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341153C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg446Gln	rs772853104	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341154G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu447Ter	RCV000000075	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243341156dup	ClinVar
SDCCAG8	Q86SQ7	p.Met448Thr	rs1015302300	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341160T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met448Arg	rs1015302300	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341160T>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr451Ile	rs762653933	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341169C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr451Ala	rs1422587582	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341168A>G	TOPMed
SDCCAG8	Q86SQ7	p.Lys452Asn	rs1057515483	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243341173G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val453Ala	rs777367811	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344216T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys454Arg	rs1179852986	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344218T>C	gnomAD
SDCCAG8	Q86SQ7	p.Gly455Glu	rs1167868774	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344222G>A	TOPMed
SDCCAG8	Q86SQ7	p.Met457Lys	rs1250974056	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344228T>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg458His	rs748784645	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344231G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr459Ser	rs770633078	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344234A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr459His	rs1182496392	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344233T>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr459Cys	rs770633078	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344234A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln460His	rs79762798	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344238G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln460His	RCV000174354	missense variant	-	NC_000001.11:g.243344238G>C	ClinVar
SDCCAG8	Q86SQ7	p.Thr464Asn	rs1182214930	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344249C>A	TOPMed
SDCCAG8	Q86SQ7	p.Asn465Lys	rs891013696	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344253C>A	TOPMed
SDCCAG8	Q86SQ7	p.Asn465Ser	rs1479963664	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344252A>G	gnomAD
SDCCAG8	Q86SQ7	p.Glu470Gly	RCV000153922	missense variant	-	NC_000001.11:g.243344267A>G	ClinVar
SDCCAG8	Q86SQ7	p.Glu470Gly	rs118064970	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344267A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala471Ser	rs775752533	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344269G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Asp	rs764566581	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344274A>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Gly	rs1306789578	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344273A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Val	rs1306789578	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344273A>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Lys	rs576988620	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344272G>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu472Gln	rs576988620	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344272G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu474Ter	RCV000000074	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243344278del	ClinVar
SDCCAG8	Q86SQ7	p.Glu474Ter	RCV000256021	frameshift	-	NC_000001.11:g.243344278del	ClinVar
SDCCAG8	Q86SQ7	p.Glu474Ter	RCV000625956	frameshift	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243344278del	ClinVar
SDCCAG8	Q86SQ7	p.His475Tyr	rs190941099	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344281C>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg476Thr	rs761873846	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344285G>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg476Lys	rs761873846	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344285G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu477Gln	rs556191085	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344287G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg479Thr	rs1328696549	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344294G>C	TOPMed
SDCCAG8	Q86SQ7	p.Ala480Val	rs750599032	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344297C>T	ExAC
SDCCAG8	Q86SQ7	p.Thr482Ter	RCV000144682	frameshift	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243344302del	ClinVar
SDCCAG8	Q86SQ7	p.Thr482Ter	RCV000727146	frameshift	-	NC_000001.11:g.243344302del	ClinVar
SDCCAG8	Q86SQ7	p.Asp485Asn	rs758550495	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344311G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp485Gly	rs1273880712	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344312A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile488Asn	rs917313292	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344321T>A	TOPMed
SDCCAG8	Q86SQ7	p.Asp490Asn	rs1422257046	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344326G>A	TOPMed
SDCCAG8	Q86SQ7	p.Gln491Glu	rs1485929233	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243344329C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ile493Met	rs1423681895	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378726A>G	gnomAD
SDCCAG8	Q86SQ7	p.Glu494Asp	rs1413452795	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378729G>T	gnomAD
SDCCAG8	Q86SQ7	p.Leu496Phe	rs1432354431	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378735G>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu496Trp	rs532817936	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378734T>G	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg497Thr	rs766487460	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378737G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ile498Val	rs765529431	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378739A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu500Pro	rs894233341	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378746T>C	TOPMed
SDCCAG8	Q86SQ7	p.Leu500Met	rs750763148	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378745C>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp501His	rs150646039	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378748G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asp501His	RCV000193940	missense variant	-	NC_000001.11:g.243378748G>C	ClinVar
SDCCAG8	Q86SQ7	p.Ser503Asn	rs1268810880	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378755G>A	gnomAD
SDCCAG8	Q86SQ7	p.Ser503Gly	rs778441055	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378754A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln505Glu	rs980791573	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378760C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His506Arg	rs745351109	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378764A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu507Ser	rs1429020259	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378767T>C	TOPMed
SDCCAG8	Q86SQ7	p.Gln509Glu	rs199919586	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378772C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln509Glu	RCV000286243	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243378772C>G	ClinVar
SDCCAG8	Q86SQ7	p.Gln509Glu	RCV000327156	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243378772C>G	ClinVar
SDCCAG8	Q86SQ7	p.Gln511Arg	rs1245534369	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378779A>G	gnomAD
SDCCAG8	Q86SQ7	p.Gln511Lys	rs1201425131	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378778C>A	gnomAD
SDCCAG8	Q86SQ7	p.Gln512His	rs372453555	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378783G>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala515Thr	rs200767475	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378790G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Ala517Pro	rs776982179	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378796G>C	ExAC
SDCCAG8	Q86SQ7	p.Arg518Gly	rs770306576	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378799A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr525Lys	rs999154575	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378821C>A	TOPMed
SDCCAG8	Q86SQ7	p.Glu526Gln	rs762911140	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378823G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu526Ter	RCV000761352	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243378822del	ClinVar
SDCCAG8	Q86SQ7	p.Leu528Val	rs766547040	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378829C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gly529Ala	rs1330485298	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378833G>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu530Lys	rs190020173	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378835G>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu530Gln	rs190020173	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378835G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser531Cys	rs535103313	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378839C>G	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser531Tyr	rs535103313	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378839C>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu532Lys	rs753709808	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378841G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.His533Tyr	rs945649934	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378844C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln534Ter	rs1357294768	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243378847C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln534Glu	rs1357294768	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378847C>G	gnomAD
SDCCAG8	Q86SQ7	p.His536Pro	rs1228351598	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378854A>C	TOPMed
SDCCAG8	Q86SQ7	p.His536Tyr	rs1451546982	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378853C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu537Val	rs765056637	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378856C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Leu537Arg	rs1032332223	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378857T>G	TOPMed
SDCCAG8	Q86SQ7	p.Thr538Ser	rs370441955	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243378860C>G	ESP
SDCCAG8	Q86SQ7	p.Asp543Ter	RCV000144681	frameshift	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243415713_243415716del	ClinVar
SDCCAG8	Q86SQ7	p.Ser544Asn	rs1053242816	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415716G>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser548Thr	rs775898129	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415728G>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser548Arg	rs1388276184	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415727A>C	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser548Arg	rs1297691172	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415729C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala553Thr	rs891562168	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415742G>A	gnomAD
SDCCAG8	Q86SQ7	p.Lys554Gln	rs1406310957	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415745A>C	gnomAD
SDCCAG8	Q86SQ7	p.Gln556Pro	rs761699906	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415752A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln556Arg	rs761699906	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415752A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu558Phe	rs1348962238	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415757C>T	TOPMed
SDCCAG8	Q86SQ7	p.Gln562Arg	rs765140932	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415770A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg563Gly	rs1300220138	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415772A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu564Gln	rs750265815	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415775G>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu564Gly	rs762947754	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415776A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln565Arg	rs1257084448	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415779A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu566Lys	rs1483986069	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415781G>A	gnomAD
SDCCAG8	Q86SQ7	p.Leu567Val	rs750647231	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415784C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr568Ile	rs751089162	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415788C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln569Ter	rs780789700	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243415790C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln569Arg	rs752412976	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415791A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys570Arg	rs1448626324	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415794A>G	gnomAD
SDCCAG8	Q86SQ7	p.Ile571Leu	rs1176784180	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415796A>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln572Arg	rs1363663426	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415800A>G	TOPMed
SDCCAG8	Q86SQ7	p.Gln573Ter	rs1286714661	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243415802C>T	TOPMed
SDCCAG8	Q86SQ7	p.Gln573Ter	RCV000579189	nonsense	-	NC_000001.11:g.243415802C>T	ClinVar
SDCCAG8	Q86SQ7	p.Gln573Pro	rs1381319822	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415803A>C	gnomAD
SDCCAG8	Q86SQ7	p.Met574Ile	rs756420930	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415807G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln577Pro	rs771493123	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415815A>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln577Glu	rs749719225	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415814C>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp579Val	rs745915721	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415821A>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys580Glu	rs772347866	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415823A>G	ExAC,TOPMed
SDCCAG8	Q86SQ7	p.Lys580Gln	rs772347866	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243415823A>C	ExAC,TOPMed
SDCCAG8	Q86SQ7	p.Glu584Ala	rs757605519	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417974A>C	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu584Lys	rs150961792	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417973G>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr586Asn	rs542690685	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417979T>A	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Tyr586Cys	rs1195615970	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417980A>G	TOPMed
SDCCAG8	Q86SQ7	p.Thr590Ala	rs780281311	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417991A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln592Lys	rs1444038152	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243417997C>A	TOPMed
SDCCAG8	Q86SQ7	p.Thr594Ala	rs768941321	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418003A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Phe595Val	rs776765317	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418006T>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Phe595Val	RCV000784982	missense variant	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243418006T>G	ClinVar
SDCCAG8	Q86SQ7	p.Phe595Val	RCV000784981	missense variant	Bardet-Biedl syndrome 16 (BBS16)	NC_000001.11:g.243418006T>G	ClinVar
SDCCAG8	Q86SQ7	p.Phe595Val	RCV000790917	missense variant	-	NC_000001.11:g.243418006T>G	ClinVar
SDCCAG8	Q86SQ7	p.Thr597Lys	rs372641187	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418013C>A	ESP,ExAC
SDCCAG8	Q86SQ7	p.Leu599Phe	rs1411144910	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418020A>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu601Asp	rs1199896922	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418026A>C	TOPMed
SDCCAG8	Q86SQ7	p.Glu602Lys	rs770778500	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418027G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys603Phe	rs774257632	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418031G>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Cys604Tyr	rs759482577	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418034G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr605Ile	rs766975053	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418037C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys608Arg	rs760154232	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418046A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Leu610Pro	rs1285146744	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418052T>C	TOPMed
SDCCAG8	Q86SQ7	p.Gln612Lys	rs757630709	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418057C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr617Asn	rs528435621	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243418073C>A	1000Genomes
SDCCAG8	Q86SQ7	p.Ser619Tyr	rs145896729	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426429C>A	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu620Gly	rs1397205149	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426432A>G	TOPMed
SDCCAG8	Q86SQ7	p.Ala622Val	rs760231013	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426438C>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gln623Arg	rs768111847	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426441A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln626Lys	rs776293737	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426449C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Glu627Val	rs1410019812	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426453A>T	gnomAD
SDCCAG8	Q86SQ7	p.Arg629Met	rs548855151	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426459G>T	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Arg629Ser	rs765653727	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426460G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg629Thr	rs548855151	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426459G>C	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Tyr630His	rs138187640	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426461T>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr631Ile	rs565662622	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426465C>T	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Asp633Gly	rs1330860751	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426471A>G	gnomAD
SDCCAG8	Q86SQ7	p.Lys634Glu	rs1333905735	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426473A>G	gnomAD
SDCCAG8	Q86SQ7	p.Leu638Ser	rs752896885	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426486T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn642Asp	rs1012914757	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426497A>G	gnomAD
SDCCAG8	Q86SQ7	p.Glu644Gly	rs1441286815	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426504A>G	gnomAD
SDCCAG8	Q86SQ7	p.Leu645Met	rs181033600	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426506T>A	1000Genomes
SDCCAG8	Q86SQ7	p.Leu645Phe	rs185944691	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426508G>C	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu647Lys	rs1222947634	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426512G>A	gnomAD
SDCCAG8	Q86SQ7	p.Glu647Val	rs1289275011	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426513A>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln648Ter	rs367572249	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243426515C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys649Arg	rs371805116	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426518T>C	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Cys649Ter	RCV000000076	frameshift	Senior-Loken syndrome 7 (SLSN7)	NC_000001.11:g.243426517_243426518GT[1]	ClinVar
SDCCAG8	Q86SQ7	p.His652Arg	rs746505992	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426528A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Gly653Glu	rs1452709438	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426531G>A	gnomAD
SDCCAG8	Q86SQ7	p.Arg654Ser	rs1479850463	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426535A>C	gnomAD
SDCCAG8	Q86SQ7	p.Arg654Gly	rs1267378140	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426533A>G	gnomAD
SDCCAG8	Q86SQ7	p.Val655Ile	rs776040834	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426536G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val655Ile	RCV000261879	missense variant	-	NC_000001.11:g.243426536G>A	ClinVar
SDCCAG8	Q86SQ7	p.Val655Glu	rs1415587153	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426537T>A	TOPMed
SDCCAG8	Q86SQ7	p.His656Arg	rs761503701	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426540A>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His656Tyr	rs1262692904	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426539C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His656Asn	rs1262692904	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426539C>A	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.His656Leu	rs761503701	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426540A>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu657Ala	rs1157794544	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426543A>C	gnomAD
SDCCAG8	Q86SQ7	p.Glu657Lys	rs773035864	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426542G>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Thr658Met	RCV000351823	missense variant	Renal dysplasia and retinal aplasia (SLSN)	NC_000001.11:g.243426546C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr658Met	RCV000292253	missense variant	Bardet-Biedl syndrome (BBS)	NC_000001.11:g.243426546C>T	ClinVar
SDCCAG8	Q86SQ7	p.Thr658Met	rs1057515530	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426546C>T	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Met659Thr	rs375244541	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426549T>C	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met659Val	rs537214737	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426548A>G	1000Genomes,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys660Gln	rs141230462	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243426551A>C	ESP,TOPMed
SDCCAG8	Q86SQ7	p.Leu663Ile	rs751286389	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489015C>A	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Lys668Glu	rs1446535595	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489030A>G	TOPMed
SDCCAG8	Q86SQ7	p.His669Gln	rs1336926482	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489035C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ala672Thr	rs1326176310	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489042G>A	TOPMed
SDCCAG8	Q86SQ7	p.Ala674Val	rs1256449972	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489049C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln675Arg	rs748157088	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489052A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln676Glu	rs1242245359	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489054C>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val678Met	rs755629522	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489060G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Val678Leu	rs755629522	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489060G>T	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Asn685Thr	rs1365519418	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489082A>C	TOPMed
SDCCAG8	Q86SQ7	p.Arg691Lys	rs1334951618	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489100G>A	gnomAD
SDCCAG8	Q86SQ7	p.Gln692Ter	rs770511642	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243489102C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Gln692Arg	rs1367234572	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489103A>G	TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser693Asn	rs1205844381	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489106G>A	TOPMed
SDCCAG8	Q86SQ7	p.Leu694Pro	rs774092854	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489109T>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Ser695Trp	rs746212924	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489112C>G	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Glu697Asp	rs978082572	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489119G>T	gnomAD
SDCCAG8	Q86SQ7	p.Arg700Pro	rs761172746	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489127G>C	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg700Trp	rs369591883	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489126C>T	ESP,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg700Gln	rs761172746	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489127G>A	ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Arg702Trp	rs182859748	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489132C>T	1000Genomes,ExAC,TOPMed,gnomAD
SDCCAG8	Q86SQ7	p.Thr703Ile	rs368583241	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243489136C>T	ESP,ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Met708Val	rs778488043	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243499765A>G	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.Pro709Leu	rs1489827909	missense variant	-	CHR_HSCHR1_3_CTG32_1:g.243499769C>T	gnomAD
SDCCAG8	Q86SQ7	p.Gln710Ter	rs750000450	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243499771C>T	ExAC,gnomAD
SDCCAG8	Q86SQ7	p.SerAspCys711SerAspTerLeuUnk	rs1474766803	stop gained	-	CHR_HSCHR1_3_CTG32_1:g.243499781_243499782insATTG	gnomAD
EVC2	Q86UK5	p.Pro3Ser	rs1413875487	missense variant	-	NC_000004.12:g.5708507G>A	gnomAD
EVC2	Q86UK5	p.Pro3Leu	rs927592733	missense variant	-	NC_000004.12:g.5708506G>A	gnomAD
EVC2	Q86UK5	p.Ser4Leu	rs1468421367	missense variant	-	NC_000004.12:g.5708503G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Ser4Trp	rs1468421367	missense variant	-	NC_000004.12:g.5708503G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg7Gln	rs969322078	missense variant	-	NC_000004.12:g.5708494C>T	gnomAD
EVC2	Q86UK5	p.Arg7Gly	rs1178938566	missense variant	-	NC_000004.12:g.5708495G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly8Glu	rs1022585059	missense variant	-	NC_000004.12:g.5708491C>T	gnomAD
EVC2	Q86UK5	p.Pro10Arg	rs767618685	missense variant	-	NC_000004.12:g.5708485G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Thr11Met	rs1279975852	missense variant	-	NC_000004.12:g.5708482G>A	gnomAD
EVC2	Q86UK5	p.Trp12Arg	rs1462764709	missense variant	-	NC_000004.12:g.5708480A>G	TOPMed
EVC2	Q86UK5	p.Leu14Gln	rs1352051827	missense variant	-	NC_000004.12:g.5708473A>T	gnomAD
EVC2	Q86UK5	p.Ala15Ser	rs1201835632	missense variant	-	NC_000004.12:g.5708471C>A	TOPMed
EVC2	Q86UK5	p.Gly16Arg	rs1031056362	missense variant	-	NC_000004.12:g.5708468C>G	gnomAD
EVC2	Q86UK5	p.Gly16Trp	rs1031056362	missense variant	-	NC_000004.12:g.5708468C>A	gnomAD
EVC2	Q86UK5	p.Gly17Arg	rs1312959424	missense variant	-	NC_000004.12:g.5708465C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly17Val	rs761964644	missense variant	-	NC_000004.12:g.5708464C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Gly17Cys	rs1312959424	missense variant	-	NC_000004.12:g.5708465C>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly17Ala	rs761964644	missense variant	-	NC_000004.12:g.5708464C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Leu18Phe	rs6820907	missense variant	-	NC_000004.12:g.5708462G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu18Ter	RCV000672151	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708468dup	ClinVar
EVC2	Q86UK5	p.Leu18Phe	RCV000289860	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5708462G>A	ClinVar
EVC2	Q86UK5	p.Leu18Phe	RCV000347215	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5708462G>A	ClinVar
EVC2	Q86UK5	p.Leu18Phe	RCV000757228	missense variant	-	NC_000004.12:g.5708462G>A	ClinVar
EVC2	Q86UK5	p.Leu18Phe	RCV000248616	missense variant	-	NC_000004.12:g.5708462G>A	ClinVar
EVC2	Q86UK5	p.Ala20Thr	rs1398732611	missense variant	-	NC_000004.12:g.5708456C>T	gnomAD
EVC2	Q86UK5	p.Ala20Val	rs1359720330	missense variant	-	NC_000004.12:g.5708455G>A	gnomAD
EVC2	Q86UK5	p.Ala22Ter	RCV000670871	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708452dup	ClinVar
EVC2	Q86UK5	p.Leu23Val	rs768661102	missense variant	-	NC_000004.12:g.5708447G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala24Val	rs1162069166	missense variant	-	NC_000004.12:g.5708443G>A	gnomAD
EVC2	Q86UK5	p.Gly27Ser	rs1238555308	missense variant	-	NC_000004.12:g.5708435C>T	gnomAD
EVC2	Q86UK5	p.Gly27Ala	rs1190293677	missense variant	-	NC_000004.12:g.5708434C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly27Arg	rs1238555308	missense variant	-	NC_000004.12:g.5708435C>G	gnomAD
EVC2	Q86UK5	p.Arg28Ter	rs1316105051	stop gained	-	NC_000004.12:g.5708432G>A	TOPMed
EVC2	Q86UK5	p.Leu31Phe	rs1487498243	missense variant	-	NC_000004.12:g.5708423G>A	gnomAD
EVC2	Q86UK5	p.Leu31Pro	rs557830930	missense variant	-	NC_000004.12:g.5708422A>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu31Pro	RCV000344052	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5708422A>G	ClinVar
EVC2	Q86UK5	p.Leu31Pro	RCV000382272	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5708422A>G	ClinVar
EVC2	Q86UK5	p.Leu31Pro	RCV000560549	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5708422A>G	ClinVar
EVC2	Q86UK5	p.Gly32Asp	rs1356057885	missense variant	-	NC_000004.12:g.5708419C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly32Arg	rs1284228783	missense variant	-	NC_000004.12:g.5708420C>G	TOPMed
EVC2	Q86UK5	p.Ser34Ile	rs888701582	missense variant	-	NC_000004.12:g.5708413C>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Ser34Thr	rs888701582	missense variant	-	NC_000004.12:g.5708413C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Ser34Arg	rs1288009416	missense variant	-	NC_000004.12:g.5708414T>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Ser34Asn	rs888701582	missense variant	-	NC_000004.12:g.5708413C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg36Cys	rs534751425	missense variant	-	NC_000004.12:g.5708408G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro37Ser	rs769781725	missense variant	-	NC_000004.12:g.5708405G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Trp39Ter	rs1345487794	stop gained	-	NC_000004.12:g.5708398C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg40Ser	rs1270602557	missense variant	-	NC_000004.12:g.5708396G>T	TOPMed
EVC2	Q86UK5	p.Pro41Ser	rs1401633069	missense variant	-	NC_000004.12:g.5708393G>A	gnomAD
EVC2	Q86UK5	p.Pro41His	RCV000252966	missense variant	-	NC_000004.12:g.5708392G>T	ClinVar
EVC2	Q86UK5	p.Pro41His	rs544397395	missense variant	-	NC_000004.12:g.5708392G>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro41His	RCV000387924	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5708392G>T	ClinVar
EVC2	Q86UK5	p.Gly43Ter	RCV000671513	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708391_5708412dup	ClinVar
EVC2	Q86UK5	p.Gly43Ser	rs1405435187	missense variant	-	NC_000004.12:g.5708387C>T	gnomAD
EVC2	Q86UK5	p.Ala44Val	rs1165473463	missense variant	-	NC_000004.12:g.5708383G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Gln45Ter	RCV000666395	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708381G>A	ClinVar
EVC2	Q86UK5	p.Gln45Ter	rs1477102573	stop gained	-	NC_000004.12:g.5708381G>A	gnomAD
EVC2	Q86UK5	p.Pro46Thr	rs1332804307	missense variant	-	NC_000004.12:g.5708378G>T	gnomAD
EVC2	Q86UK5	p.Pro47Thr	rs376923652	missense variant	-	NC_000004.12:g.5708375G>T	1000Genomes,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro47Ser	rs376923652	missense variant	-	NC_000004.12:g.5708375G>A	1000Genomes,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg48Trp	rs1036132954	missense variant	-	NC_000004.12:g.5708372G>A	TOPMed
EVC2	Q86UK5	p.Asp49Ter	RCV000704017	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708366_5708375del	ClinVar
EVC2	Q86UK5	p.Asp49Ter	RCV000665329	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708366_5708375del	ClinVar
EVC2	Q86UK5	p.Pro50Ser	rs1245195172	missense variant	-	NC_000004.12:g.5708366G>A	gnomAD
EVC2	Q86UK5	p.Pro50Arg	rs1304657923	missense variant	-	NC_000004.12:g.5708365G>C	TOPMed
EVC2	Q86UK5	p.Ala53Gly	rs1452222368	missense variant	-	NC_000004.12:g.5708356G>C	gnomAD
EVC2	Q86UK5	p.Ala53Thr	rs1380662525	missense variant	-	NC_000004.12:g.5708357C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Pro54Ser	rs756796705	missense variant	-	NC_000004.12:g.5708354G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg55Ser	rs1216900408	missense variant	-	NC_000004.12:g.5708349C>A	gnomAD
EVC2	Q86UK5	p.Arg55Ser	rs1216900408	missense variant	-	NC_000004.12:g.5708349C>G	gnomAD
EVC2	Q86UK5	p.Ser56Phe	rs1241262586	missense variant	-	NC_000004.12:g.5708347G>A	TOPMed
EVC2	Q86UK5	p.Ser56Pro	rs1384345489	missense variant	-	NC_000004.12:g.5708348A>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly59Arg	rs947670023	missense variant	-	NC_000004.12:g.5708339C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly59Ser	rs947670023	missense variant	-	NC_000004.12:g.5708339C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly59Ala	rs535274320	missense variant	-	NC_000004.12:g.5708338C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Ile62Phe	rs1489956102	missense variant	-	NC_000004.12:g.5708330T>A	TOPMed
EVC2	Q86UK5	p.Pro63Ser	rs529026861	missense variant	-	NC_000004.12:g.5708327G>A	gnomAD
EVC2	Q86UK5	p.Pro63Leu	rs1365302460	missense variant	-	NC_000004.12:g.5708326G>A	gnomAD
EVC2	Q86UK5	p.Pro64Arg	rs1292564840	missense variant	-	NC_000004.12:g.5708323G>C	gnomAD
EVC2	Q86UK5	p.Ser67Ter	RCV000671301	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708314_5708323del	ClinVar
EVC2	Q86UK5	p.Ser67Arg	rs1173355895	missense variant	-	NC_000004.12:g.5708313G>T	gnomAD
EVC2	Q86UK5	p.Ser67Ter	RCV000672336	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708319_5708323dup	ClinVar
EVC2	Q86UK5	p.Gly68Arg	rs1464658108	missense variant	-	NC_000004.12:g.5708312C>T	gnomAD
EVC2	Q86UK5	p.Gly70Val	rs754380041	missense variant	-	NC_000004.12:g.5708305C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro71Ter	RCV000666938	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5708305_5708309CCCGC[4]	ClinVar
EVC2	Q86UK5	p.Glu72Gln	rs570345160	missense variant	-	NC_000004.12:g.5708300C>G	1000Genomes
EVC2	Q86UK5	p.Ser74Asn	RCV000658048	missense variant	-	NC_000004.12:g.5708293C>T	ClinVar
EVC2	Q86UK5	p.Ser74Asn	rs1191013607	missense variant	-	NC_000004.12:g.5708293C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Thr75Met	rs868601826	missense variant	-	NC_000004.12:g.5708290G>A	TOPMed
EVC2	Q86UK5	p.Thr75Lys	rs868601826	missense variant	-	NC_000004.12:g.5708290G>T	TOPMed
EVC2	Q86UK5	p.Thr75Ser	rs1165261008	missense variant	-	NC_000004.12:g.5708291T>A	TOPMed
EVC2	Q86UK5	p.Gln76Pro	rs976833828	missense variant	-	NC_000004.12:g.5708287T>G	TOPMed
EVC2	Q86UK5	p.Asp77Tyr	rs759413537	missense variant	-	NC_000004.12:g.5697647C>A	ExAC
EVC2	Q86UK5	p.Asp77Glu	rs776531365	missense variant	-	NC_000004.12:g.5697645G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Leu78Phe	rs767889243	missense variant	-	NC_000004.12:g.5697642C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Pro79Ser	rs759834226	missense variant	-	NC_000004.12:g.5697641G>A	gnomAD
EVC2	Q86UK5	p.Pro79Thr	rs759834226	missense variant	-	NC_000004.12:g.5697641G>T	gnomAD
EVC2	Q86UK5	p.Met81Ile	rs770636406	missense variant	-	NC_000004.12:g.5697633C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met81Ile	rs770636406	missense variant	-	NC_000004.12:g.5697633C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile82Leu	rs1267037797	missense variant	-	NC_000004.12:g.5697632T>G	TOPMed
EVC2	Q86UK5	p.Trp83Cys	COSM1328473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5697627C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Glu87Gly	rs1159933892	missense variant	-	NC_000004.12:g.5697616T>C	TOPMed
EVC2	Q86UK5	p.Cys88Ter	rs965707319	stop gained	-	NC_000004.12:g.5697612G>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Cys88Ter	RCV000414626	nonsense	-	NC_000004.12:g.5697612G>T	ClinVar
EVC2	Q86UK5	p.Cys88Arg	rs777448755	missense variant	-	NC_000004.12:g.5697614A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Cys88Ter	RCV000670598	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5697612G>T	ClinVar
EVC2	Q86UK5	p.Cys89Phe	rs771545761	missense variant	-	NC_000004.12:g.5697610C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Lys92Asn	rs1313805019	missense variant	-	NC_000004.12:g.5697600C>G	gnomAD
EVC2	Q86UK5	p.Thr93Ile	rs1283422559	missense variant	-	NC_000004.12:g.5697598G>A	gnomAD
EVC2	Q86UK5	p.Thr93Pro	rs1158989105	missense variant	-	NC_000004.12:g.5697599T>G	TOPMed
EVC2	Q86UK5	p.Ala94Glu	rs1350888580	missense variant	-	NC_000004.12:g.5697595G>T	TOPMed
EVC2	Q86UK5	p.Val95Met	rs747642992	missense variant	-	NC_000004.12:g.5697593C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Glu96Gln	rs758657230	missense variant	-	NC_000004.12:g.5694499C>G	ExAC
EVC2	Q86UK5	p.Ala97Thr	rs1250509367	missense variant	-	NC_000004.12:g.5694496C>T	TOPMed
EVC2	Q86UK5	p.Ala97Gly	rs914857971	missense variant	-	NC_000004.12:g.5694495G>C	TOPMed
EVC2	Q86UK5	p.Pro98Gln	rs765453270	missense variant	-	NC_000004.12:g.5694492G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Gly100Val	rs886059493	missense variant	-	NC_000004.12:g.5694486C>A	gnomAD
EVC2	Q86UK5	p.Gly100Glu	RCV000361841	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5694486C>T	ClinVar
EVC2	Q86UK5	p.Gly100Glu	rs886059493	missense variant	-	NC_000004.12:g.5694486C>T	gnomAD
EVC2	Q86UK5	p.Met101Ile	rs766324278	missense variant	-	NC_000004.12:g.5694482C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Lys102Ile	rs1210386438	missense variant	-	NC_000004.12:g.5694480T>A	gnomAD
EVC2	Q86UK5	p.Asp104Glu	rs1218402351	missense variant	-	NC_000004.12:g.5694473G>C	gnomAD
EVC2	Q86UK5	p.Met107Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5694464C>T	NCI-TCGA
EVC2	Q86UK5	p.Glu108Ter	rs1341583665	stop gained	-	NC_000004.12:g.5694463C>A	gnomAD
EVC2	Q86UK5	p.Glu108Gly	rs767187721	missense variant	-	NC_000004.12:g.5694462T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu108Val	rs767187721	missense variant	-	NC_000004.12:g.5694462T>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu108Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5694463C>T	NCI-TCGA
EVC2	Q86UK5	p.Val109Ile	rs544879562	missense variant	-	NC_000004.12:g.5694460C>T	1000Genomes
EVC2	Q86UK5	p.Phe110Leu	rs150444745	missense variant	-	NC_000004.12:g.5694457A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile111Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5694453A>G	NCI-TCGA
EVC2	Q86UK5	p.Pro112Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5694450G>T	NCI-TCGA
EVC2	Q86UK5	p.Leu113Phe	rs768224457	missense variant	-	NC_000004.12:g.5694448G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ser114Ter	rs748820015	stop gained	-	NC_000004.12:g.5694444G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser114Ter	rs748820015	stop gained	-	NC_000004.12:g.5694444G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr115Ala	COSM4125253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5694442T>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Thr115Ile	rs372223990	missense variant	-	NC_000004.12:g.5694441G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr115Ser	rs372223990	missense variant	-	NC_000004.12:g.5694441G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser116Tyr	rs948028147	missense variant	-	NC_000004.12:g.5694438G>T	-
EVC2	Q86UK5	p.Ser116Tyr	rs948028147	missense variant	-	NC_000004.12:g.5694438G>T	NCI-TCGA
EVC2	Q86UK5	p.Ala118Val	rs778239021	missense variant	-	NC_000004.12:g.5694432G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala118Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5694433C>T	NCI-TCGA
EVC2	Q86UK5	p.Gly121Ala	rs370417224	missense variant	-	NC_000004.12:g.5694423C>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly121Arg	rs748417016	missense variant	-	NC_000004.12:g.5694424C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro122Ser	rs1398017880	missense variant	-	NC_000004.12:g.5694421G>A	TOPMed
EVC2	Q86UK5	p.Trp123Arg	rs1267622730	missense variant	-	NC_000004.12:g.5694418A>G	gnomAD
EVC2	Q86UK5	p.Ala124Pro	rs1214937419	missense variant	-	NC_000004.12:g.5694415C>G	gnomAD
EVC2	Q86UK5	p.His125Asn	rs766231079	missense variant	-	NC_000004.12:g.5694412G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His125Arg	rs1198622747	missense variant	-	NC_000004.12:g.5694411T>C	gnomAD
EVC2	Q86UK5	p.Phe130LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5694395A>-	NCI-TCGA
EVC2	Q86UK5	p.Ile131Thr	rs1231558503	missense variant	-	NC_000004.12:g.5694393A>G	gnomAD
EVC2	Q86UK5	p.Pro132Ser	rs141576990	missense variant	-	NC_000004.12:g.5694391G>A	ESP,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro132Ter	RCV000698365	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5694393dup	ClinVar
EVC2	Q86UK5	p.Pro132Thr	rs141576990	missense variant	-	NC_000004.12:g.5694391G>T	ESP,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro132Leu	rs750208130	missense variant	-	NC_000004.12:g.5694390G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ser133Phe	rs1330560682	missense variant	-	NC_000004.12:g.5694387G>A	gnomAD
EVC2	Q86UK5	p.Trp134Ter	rs761592083	stop gained	-	NC_000004.12:g.5694383C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Lys137Arg	rs1377835812	missense variant	-	NC_000004.12:g.5694375T>C	gnomAD
EVC2	Q86UK5	p.Lys137Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5694375T>G	NCI-TCGA
EVC2	Q86UK5	p.Leu139Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5694370A>C	NCI-TCGA
EVC2	Q86UK5	p.Phe140Ser	rs771367733	missense variant	-	NC_000004.12:g.5694366A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Phe140Ter	RCV000723206	nonsense	-	NC_000004.12:g.5694361_5694366del	ClinVar
EVC2	Q86UK5	p.Phe140Leu	rs775028194	missense variant	-	NC_000004.12:g.5694367A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu143Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5694358C>A	NCI-TCGA
EVC2	Q86UK5	p.Ser144Tyr	COSM179269	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5694354G>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Pro145Arg	rs369955469	missense variant	-	NC_000004.12:g.5694351G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro145His	rs369955469	missense variant	-	NC_000004.12:g.5694351G>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro145Ala	rs1003376249	missense variant	-	NC_000004.12:g.5694352G>C	TOPMed
EVC2	Q86UK5	p.His148Asn	rs779289613	missense variant	-	NC_000004.12:g.5694343G>T	ExAC,gnomAD
EVC2	Q86UK5	p.His148Tyr	rs779289613	missense variant	-	NC_000004.12:g.5694343G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Arg149His	RCV000392759	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5694339C>T	ClinVar
EVC2	Q86UK5	p.Arg149Ser	rs148388393	missense variant	-	NC_000004.12:g.5694340G>T	NCI-TCGA
EVC2	Q86UK5	p.Arg149Cys	rs148388393	missense variant	-	NC_000004.12:g.5694340G>A	NCI-TCGA,NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg149His	rs202198132	missense variant	-	NC_000004.12:g.5694339C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg149Cys	rs148388393	missense variant	-	NC_000004.12:g.5694340G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg149Ser	rs148388393	missense variant	-	NC_000004.12:g.5694340G>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg149His	rs202198132	missense variant	-	NC_000004.12:g.5694339C>T	NCI-TCGA
EVC2	Q86UK5	p.Arg149Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5694339C>A	NCI-TCGA
EVC2	Q86UK5	p.Leu150Val	rs750442688	missense variant	-	NC_000004.12:g.5694337G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Asp153Asn	rs757148816	missense variant	-	NC_000004.12:g.5691327C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ser155Pro	rs143388379	missense variant	-	NC_000004.12:g.5691321A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser155Pro	RCV000757233	missense variant	-	NC_000004.12:g.5691321A>G	ClinVar
EVC2	Q86UK5	p.Val158Leu	rs777675823	missense variant	-	NC_000004.12:g.5691312C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Gln159His	rs969898088	missense variant	-	NC_000004.12:g.5691307T>A	TOPMed
EVC2	Q86UK5	p.Gly160Arg	rs1487548355	missense variant	-	NC_000004.12:g.5691306C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly160Val	rs1262722362	missense variant	-	NC_000004.12:g.5691305C>A	gnomAD
EVC2	Q86UK5	p.Thr161Ala	rs780323237	missense variant	-	NC_000004.12:g.5691303T>C	NCI-TCGA
EVC2	Q86UK5	p.Thr161Ala	rs780323237	missense variant	-	NC_000004.12:g.5691303T>C	gnomAD
EVC2	Q86UK5	p.Asn164Tyr	rs1184723847	missense variant	-	NC_000004.12:g.5691294T>A	TOPMed
EVC2	Q86UK5	p.Asn164His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5691294T>G	NCI-TCGA
EVC2	Q86UK5	p.Ile167Val	rs752457225	missense variant	-	NC_000004.12:g.5691285T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Ile167Ter	RCV000723249	frameshift	-	NC_000004.12:g.5691284_5691285del	ClinVar
EVC2	Q86UK5	p.Gln169Arg	rs764780098	missense variant	-	NC_000004.12:g.5691278T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Cys171Arg	rs868434387	missense variant	-	NC_000004.12:g.5691273A>G	gnomAD
EVC2	Q86UK5	p.Cys171Tyr	rs200401090	missense variant	-	NC_000004.12:g.5691272C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala172Thr	rs1216554159	missense variant	-	NC_000004.12:g.5691270C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Leu173ArgPheSerTerUnkUnkUnk	COSM5210444	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5691266A>-	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Leu173Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5691266A>T	NCI-TCGA
EVC2	Q86UK5	p.Gly176Glu	rs928810946	missense variant	-	NC_000004.12:g.5689336C>T	TOPMed
EVC2	Q86UK5	p.Ser177Leu	rs145758016	missense variant	-	NC_000004.12:g.5689333G>A	NCI-TCGA,NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ser177Leu	RCV000384115	missense variant	-	NC_000004.12:g.5689333G>A	ClinVar
EVC2	Q86UK5	p.Ser177Leu	rs145758016	missense variant	-	NC_000004.12:g.5689333G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu179Ter	RCV000674426	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5689329dup	ClinVar
EVC2	Q86UK5	p.Ala180Ser	rs1339378321	missense variant	-	NC_000004.12:g.5689325C>A	TOPMed
EVC2	Q86UK5	p.Ala180Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5689324G>A	NCI-TCGA
EVC2	Q86UK5	p.Gln181Leu	rs144692804	missense variant	-	NC_000004.12:g.5689321T>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln181Pro	rs144692804	missense variant	-	NC_000004.12:g.5689321T>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr182Ile	rs747082570	missense variant	-	NC_000004.12:g.5689318G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Thr182Arg	rs747082570	missense variant	-	NC_000004.12:g.5689318G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Arg184Cys	RCV000309942	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5689313G>A	ClinVar
EVC2	Q86UK5	p.Arg184His	rs771841841	missense variant	-	NC_000004.12:g.5689312C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Arg184Cys	rs773218631	missense variant	-	NC_000004.12:g.5689313G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg184Cys	RCV000756102	missense variant	-	NC_000004.12:g.5689313G>A	ClinVar
EVC2	Q86UK5	p.Ile185Val	rs200843063	missense variant	-	NC_000004.12:g.5689310T>C	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Trp186Arg	rs1342830628	missense variant	-	NC_000004.12:g.5689307A>G	TOPMed
EVC2	Q86UK5	p.Leu188Val	rs778526179	missense variant	-	NC_000004.12:g.5689301G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Val189Leu	rs754798862	missense variant	-	NC_000004.12:g.5689298C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asn190Thr	rs748989133	missense variant	-	NC_000004.12:g.5689294T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Asn191Asp	RCV000754967	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5689292T>C	ClinVar
EVC2	Q86UK5	p.Asn191Thr	rs754001550	missense variant	-	NC_000004.12:g.5689291T>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asn191Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5689291T>C	NCI-TCGA
EVC2	Q86UK5	p.Thr192Asn	rs749834951	missense variant	-	NC_000004.12:g.5689288G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Thr192Ser	rs749834951	missense variant	-	NC_000004.12:g.5689288G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Thr192Ala	rs1173440752	missense variant	-	NC_000004.12:g.5689289T>C	gnomAD
EVC2	Q86UK5	p.Thr195Ile	rs201960121	missense variant	-	NC_000004.12:g.5689279G>A	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Ser196Leu	rs766510526	missense variant	-	NC_000004.12:g.5689276G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ser196Thr	rs753223509	missense variant	-	NC_000004.12:g.5689277A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Asn199Ser	rs567458437	missense variant	-	NC_000004.12:g.5689267T>C	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Asn199Ile	rs567458437	missense variant	-	NC_000004.12:g.5689267T>A	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Leu200Arg	rs1211363362	missense variant	-	NC_000004.12:g.5689264A>C	gnomAD
EVC2	Q86UK5	p.Ser201Leu	RCV000532437	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5689261G>A	ClinVar
EVC2	Q86UK5	p.Ser201Leu	rs766533908	missense variant	-	NC_000004.12:g.5689261G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu203Val	rs1238785579	missense variant	-	NC_000004.12:g.5689256G>C	gnomAD
EVC2	Q86UK5	p.Asp207Gly	rs1312588880	missense variant	-	NC_000004.12:g.5689243T>C	gnomAD
EVC2	Q86UK5	p.Asp207Tyr	rs761707323	missense variant	-	NC_000004.12:g.5689244C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Asp207Tyr	RCV000516039	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.5689244C>A	ClinVar
EVC2	Q86UK5	p.Asp207Tyr	RCV000515831	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5689244C>A	ClinVar
EVC2	Q86UK5	p.Ile209Met	rs1415784175	missense variant	-	NC_000004.12:g.5689236A>C	gnomAD
EVC2	Q86UK5	p.Ala210Val	rs1377494906	missense variant	-	NC_000004.12:g.5689234G>A	gnomAD
EVC2	Q86UK5	p.Leu212Val	rs530665317	missense variant	-	NC_000004.12:g.5689229G>C	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu212Pro	rs1296719541	missense variant	-	NC_000004.12:g.5689228A>G	TOPMed
EVC2	Q86UK5	p.Ile214Val	rs1345907539	missense variant	-	NC_000004.12:g.5689223T>C	gnomAD
EVC2	Q86UK5	p.Ile214Met	rs749033945	missense variant	-	NC_000004.12:g.5689221A>C	ExAC,gnomAD
EVC2	Q86UK5	p.Trp215Ter	RCV000505905	nonsense	-	NC_000004.12:g.5689218C>T	ClinVar
EVC2	Q86UK5	p.Trp215Ter	rs779857359	stop gained	-	NC_000004.12:g.5689218C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Asp216Asn	rs769530661	missense variant	-	NC_000004.12:g.5689217C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ser217Cys	rs1284700798	missense variant	-	NC_000004.12:g.5689213G>C	TOPMed
EVC2	Q86UK5	p.Val218Gly	rs758420403	missense variant	-	NC_000004.12:g.5689210A>C	gnomAD
EVC2	Q86UK5	p.Gly219Ter	rs745404766	stop gained	-	NC_000004.12:g.5689208C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asn220His	rs756756836	missense variant	-	NC_000004.12:g.5689205T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Asn220Lys	rs746099524	missense variant	-	NC_000004.12:g.5689203G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg221Ser	rs753207027	missense variant	-	NC_000004.12:g.5689200C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser223Ter	rs999964757	stop gained	-	NC_000004.12:g.5689195G>T	gnomAD
EVC2	Q86UK5	p.Ser223Leu	rs999964757	missense variant	-	NC_000004.12:g.5689195G>A	gnomAD
EVC2	Q86UK5	p.Ser223Trp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5689195G>C	NCI-TCGA
EVC2	Q86UK5	p.Glu224Asp	COSM1056229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5689191T>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Gly225Arg	rs903040749	missense variant	-	NC_000004.12:g.5689190C>T	gnomAD
EVC2	Q86UK5	p.Phe226Leu	rs1276510706	missense variant	-	NC_000004.12:g.5689185G>C	gnomAD
EVC2	Q86UK5	p.Phe226Leu	rs766621900	missense variant	-	NC_000004.12:g.5689187A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Gln227Arg	rs944632876	missense variant	-	NC_000004.12:g.5689183T>C	gnomAD
EVC2	Q86UK5	p.Ala228Asp	COSM5483251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5689180G>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ser230Arg	rs200743695	missense variant	-	NC_000004.12:g.5689173G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser230Gly	rs4689278	missense variant	-	NC_000004.12:g.5689175T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser230Asn	rs200479891	missense variant	-	NC_000004.12:g.5689174C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser230Gly	RCV000243950	missense variant	-	NC_000004.12:g.5689175T>C	ClinVar
EVC2	Q86UK5	p.Ser230Gly	RCV000294615	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5689175T>C	ClinVar
EVC2	Q86UK5	p.Lys231Arg	RCV000399493	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5689171T>C	ClinVar
EVC2	Q86UK5	p.Lys231Asn	COSM1056228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5689170C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Lys231Arg	rs114024753	missense variant	-	NC_000004.12:g.5689171T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Lys232Glu	rs201780057	missense variant	-	NC_000004.12:g.5689169T>C	1000Genomes,ExAC
EVC2	Q86UK5	p.Phe233Cys	rs931390799	missense variant	-	NC_000004.12:g.5689165A>C	TOPMed
EVC2	Q86UK5	p.Gln235Lys	rs1421156255	missense variant	-	NC_000004.12:g.5689160G>T	gnomAD
EVC2	Q86UK5	p.Val236Ala	rs764307512	missense variant	-	NC_000004.12:g.5685479A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val236Ala	RCV000665674	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5685479A>G	ClinVar
EVC2	Q86UK5	p.Gly237Ter	RCV000722919	frameshift	-	NC_000004.12:g.5685478del	ClinVar
EVC2	Q86UK5	p.Ala239Val	rs758545762	missense variant	-	NC_000004.12:g.5685470G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala239Asp	rs758545762	missense variant	-	NC_000004.12:g.5685470G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala239Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5685471C>G	NCI-TCGA
EVC2	Q86UK5	p.Ala241Val	rs151231386	missense variant	-	NC_000004.12:g.5685464G>A	ESP,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala245Ser	rs530937415	missense variant	-	NC_000004.12:g.5685453C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala245Thr	rs530937415	missense variant	-	NC_000004.12:g.5685453C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala246Gly	rs765973029	missense variant	-	NC_000004.12:g.5685449G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr247Met	rs200717964	missense variant	-	NC_000004.12:g.5685446G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu248Ile	rs771639161	missense variant	-	NC_000004.12:g.5685444G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Leu248Val	rs771639161	missense variant	-	NC_000004.12:g.5685444G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Gln249Arg	rs199907577	missense variant	-	NC_000004.12:g.5685440T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Gln249Ter	rs1236566474	stop gained	-	NC_000004.12:g.5685441G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Gln249Pro	rs199907577	missense variant	-	NC_000004.12:g.5685440T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Gln249Ter	RCV000667298	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5685441G>A	ClinVar
EVC2	Q86UK5	p.Ala250Val	rs1190178654	missense variant	-	NC_000004.12:g.5685437G>A	TOPMed
EVC2	Q86UK5	p.Ala250Val	rs1190178654	missense variant	-	NC_000004.12:g.5685437G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asp252Val	rs770295156	missense variant	-	NC_000004.12:g.5685431T>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly254Arg	rs781655349	missense variant	-	NC_000004.12:g.5685426C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly254Glu	rs757529889	missense variant	-	NC_000004.12:g.5685425C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Asn255Lys	rs139129327	missense variant	-	NC_000004.12:g.5685421G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly256Trp	rs145458036	missense variant	-	NC_000004.12:g.5685420C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly256Arg	rs145458036	missense variant	-	NC_000004.12:g.5685420C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu257Ter	RCV000668603	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5685417C>A	ClinVar
EVC2	Q86UK5	p.Glu257Ter	rs1553850677	stop gained	-	NC_000004.12:g.5685417C>A	-
EVC2	Q86UK5	p.Glu257ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5685417C>-	NCI-TCGA
EVC2	Q86UK5	p.Ser258Asn	rs1158675173	missense variant	-	NC_000004.12:g.5685413C>T	gnomAD
EVC2	Q86UK5	p.Lys260Thr	rs1322855795	missense variant	-	NC_000004.12:g.5685407T>G	TOPMed
EVC2	Q86UK5	p.Lys260Asn	rs1186247619	missense variant	-	NC_000004.12:g.5685406C>A	gnomAD
EVC2	Q86UK5	p.Lys260Gln	rs753699064	missense variant	-	NC_000004.12:g.5685408T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Ala263Ser	COSM4863167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5685399C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ala263Thr	rs766240289	missense variant	-	NC_000004.12:g.5685399C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln264Ter	rs760459672	stop gained	-	NC_000004.12:g.5685396G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Thr266Ser	rs750135425	missense variant	-	NC_000004.12:g.5685389G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr266Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5685389G>T	NCI-TCGA
EVC2	Q86UK5	p.Gln268Arg	rs1205810402	missense variant	-	NC_000004.12:g.5685383T>C	gnomAD
EVC2	Q86UK5	p.Ser269Gly	rs1426619132	missense variant	-	NC_000004.12:g.5685381T>C	gnomAD
EVC2	Q86UK5	p.Ser270Leu	RCV000521574	missense variant	-	NC_000004.12:g.5685377G>A	ClinVar
EVC2	Q86UK5	p.Ser270Leu	rs369153874	missense variant	-	NC_000004.12:g.5685377G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser270Leu	rs369153874	missense variant	-	NC_000004.12:g.5685377G>A	NCI-TCGA
EVC2	Q86UK5	p.Arg272Gln	rs895732435	missense variant	-	NC_000004.12:g.5685371C>T	TOPMed
EVC2	Q86UK5	p.Arg272Trp	rs114142742	missense variant	-	NC_000004.12:g.5685372G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg272Trp	rs114142742	missense variant	-	NC_000004.12:g.5685372G>A	NCI-TCGA
EVC2	Q86UK5	p.Arg272Trp	RCV000279703	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5685372G>A	ClinVar
EVC2	Q86UK5	p.Asn273Asp	rs1270468417	missense variant	-	NC_000004.12:g.5681313T>C	gnomAD
EVC2	Q86UK5	p.Thr275Ser	rs767179428	missense variant	-	NC_000004.12:g.5681307T>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr275Arg	rs1399816848	missense variant	-	NC_000004.12:g.5681306G>C	TOPMed
EVC2	Q86UK5	p.Gln276Pro	rs761502061	missense variant	-	NC_000004.12:g.5681303T>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Lys278Gln	rs942590430	missense variant	-	NC_000004.12:g.5681298T>G	TOPMed
EVC2	Q86UK5	p.Lys278Gln	rs942590430	missense variant	-	NC_000004.12:g.5681298T>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Val279Ala	rs377711797	missense variant	-	NC_000004.12:g.5681294A>G	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Val279Leu	rs1395868583	missense variant	-	NC_000004.12:g.5681295C>A	gnomAD
EVC2	Q86UK5	p.Val279Gly	rs377711797	missense variant	-	NC_000004.12:g.5681294A>C	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Leu280Phe	rs763725434	missense variant	-	NC_000004.12:g.5681292G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Leu280Arg	rs762353411	missense variant	-	NC_000004.12:g.5681291A>C	ExAC,gnomAD
EVC2	Q86UK5	p.Phe281Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5681288A>C	NCI-TCGA
EVC2	Q86UK5	p.Ser282Ala	rs1459416733	missense variant	-	NC_000004.12:g.5681286A>C	TOPMed
EVC2	Q86UK5	p.Ile283Arg	rs137852926	missense variant	-	NC_000004.12:g.5681282A>C	gnomAD
EVC2	Q86UK5	p.Ile283Arg	rs137852926	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5681282A>C	UniProt,dbSNP
EVC2	Q86UK5	p.Ile283Arg	VAR_017209	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5681282A>C	UniProt
EVC2	Q86UK5	p.Ile283Arg	RCV000003552	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5681282A>C	ClinVar
EVC2	Q86UK5	p.Ile283Val	rs777206473	missense variant	-	NC_000004.12:g.5681283T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr284Ile	rs771493745	missense variant	-	NC_000004.12:g.5681279G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr284Ter	RCV000400088	frameshift	-	NC_000004.12:g.5681281del	ClinVar
EVC2	Q86UK5	p.Glu286Lys	rs761148006	missense variant	-	NC_000004.12:g.5681274C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Glu286Asp	rs1254886187	missense variant	-	NC_000004.12:g.5681272T>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Glu287Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5681271C>T	NCI-TCGA
EVC2	Q86UK5	p.Val289Ile	rs560409382	missense variant	-	NC_000004.12:g.5681265C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val289Leu	rs560409382	missense variant	-	NC_000004.12:g.5681265C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val289Ter	RCV000519078	frameshift	-	NC_000004.12:g.5681266dup	ClinVar
EVC2	Q86UK5	p.Val289Leu	rs560409382	missense variant	-	NC_000004.12:g.5681265C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr290Met	rs149414427	missense variant	-	NC_000004.12:g.5681261G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val291Ile	rs757086176	missense variant	-	NC_000004.12:g.5665649C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Leu292Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5665646G>T	NCI-TCGA
EVC2	Q86UK5	p.Pro293Gln	COSM4125229	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5665642G>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Pro293Leu	rs138882677	missense variant	-	NC_000004.12:g.5665642G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly296Ala	RCV000756099	missense variant	-	NC_000004.12:g.5665633C>G	ClinVar
EVC2	Q86UK5	p.Gly296Ala	rs201083070	missense variant	-	NC_000004.12:g.5665633C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly296Ser	rs200998624	missense variant	-	NC_000004.12:g.5665634C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly296Val	rs201083070	missense variant	-	NC_000004.12:g.5665633C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu297Pro	rs762245730	missense variant	-	NC_000004.12:g.5665630A>G	ExAC
EVC2	Q86UK5	p.Leu297Val	RCV000319387	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5665631G>C	ClinVar
EVC2	Q86UK5	p.Leu297Val	rs886059492	missense variant	-	NC_000004.12:g.5665631G>C	gnomAD
EVC2	Q86UK5	p.His298Ter	RCV000667995	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5665627del	ClinVar
EVC2	Q86UK5	p.Ala299Thr	rs947564024	missense variant	-	NC_000004.12:g.5665625C>T	TOPMed
EVC2	Q86UK5	p.Ala299Thr	rs947564024	missense variant	-	NC_000004.12:g.5665625C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ala300Ser	rs889273419	missense variant	-	NC_000004.12:g.5665622C>A	TOPMed
EVC2	Q86UK5	p.Gly301Glu	rs142952894	missense variant	-	NC_000004.12:g.5665618C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly301Ala	rs142952894	missense variant	-	NC_000004.12:g.5665618C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Phe302Ile	RCV000734266	missense variant	-	NC_000004.12:g.5665616A>T	ClinVar
EVC2	Q86UK5	p.Phe302Ile	rs138728350	missense variant	-	NC_000004.12:g.5665616A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile304Val	rs770732009	missense variant	-	NC_000004.12:g.5665610T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Ile304Thr	rs746839301	missense variant	-	NC_000004.12:g.5665609A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Ala305Ser	rs150367317	missense variant	-	NC_000004.12:g.5665607C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala305Ser	RCV000550439	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5665607C>A	ClinVar
EVC2	Q86UK5	p.Ala305Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5665606G>A	NCI-TCGA
EVC2	Q86UK5	p.Ser309Phe	rs747880765	missense variant	-	NC_000004.12:g.5665594G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser309Phe	rs747880765	missense variant	-	NC_000004.12:g.5665594G>A	NCI-TCGA,NCI-TCGA Cosmic
EVC2	Q86UK5	p.Leu310Phe	rs778699083	missense variant	-	NC_000004.12:g.5665592G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Leu310Pro	rs754549495	missense variant	-	NC_000004.12:g.5665591A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Val311Glu	rs781739158	missense variant	-	NC_000004.12:g.5665588A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Val311Leu	rs753332650	missense variant	-	NC_000004.12:g.5665589C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val311Leu	rs753332650	missense variant	-	NC_000004.12:g.5665589C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val311Met	rs753332650	missense variant	-	NC_000004.12:g.5665589C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr313Ser	rs757658544	missense variant	-	NC_000004.12:g.5665583T>A	ExAC,gnomAD
EVC2	Q86UK5	p.Thr313Ser	rs148018699	missense variant	-	NC_000004.12:g.5665582G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr313Ile	rs148018699	missense variant	-	NC_000004.12:g.5665582G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Trp314Ter	RCV000665893	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5665578C>T	ClinVar
EVC2	Q86UK5	p.Trp314Ter	rs763363403	stop gained	-	NC_000004.12:g.5665578C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ala315Thr	rs1393659365	missense variant	-	NC_000004.12:g.5665577C>T	gnomAD
EVC2	Q86UK5	p.Ala316Val	COSM3604604	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5665573G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ala316Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5665574C>T	NCI-TCGA
EVC2	Q86UK5	p.Met320Ile	rs759639819	missense variant	-	NC_000004.12:g.5665560C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Met320Leu	rs143490486	missense variant	-	NC_000004.12:g.5665562T>A	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Met320Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5665562T>C	NCI-TCGA
EVC2	Q86UK5	p.Arg322His	rs771018691	missense variant	-	NC_000004.12:g.5665555C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg322Cys	rs539685245	missense variant	-	NC_000004.12:g.5665556G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg322Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5665555C>A	NCI-TCGA
EVC2	Q86UK5	p.Tyr323Ser	rs1209528522	missense variant	-	NC_000004.12:g.5665552T>G	TOPMed
EVC2	Q86UK5	p.Gln324Leu	rs1191217065	missense variant	-	NC_000004.12:g.5665549T>A	gnomAD
EVC2	Q86UK5	p.Cys325Arg	rs1467471693	missense variant	-	NC_000004.12:g.5665547A>G	gnomAD
EVC2	Q86UK5	p.Cys325Tyr	rs1252994889	missense variant	-	NC_000004.12:g.5665546C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Cys325Arg	RCV000679983	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5665547A>G	ClinVar
EVC2	Q86UK5	p.Cys325Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5665545A>T	NCI-TCGA
EVC2	Q86UK5	p.Lys327Gln	rs1214689391	missense variant	-	NC_000004.12:g.5665541T>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly328Glu	rs370838180	missense variant	-	NC_000004.12:g.5665537C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asn329Ser	rs368314615	missense variant	-	NC_000004.12:g.5665534T>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met330Ile	rs1308329086	missense variant	-	NC_000004.12:g.5665530C>T	gnomAD
EVC2	Q86UK5	p.Met330Val	rs1173884956	missense variant	-	NC_000004.12:g.5665532T>C	TOPMed
EVC2	Q86UK5	p.Leu331Pro	rs1299843931	missense variant	-	NC_000004.12:g.5665528A>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Thr332Ser	rs991930083	missense variant	-	NC_000004.12:g.5665525G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Thr332Ala	rs771823806	missense variant	-	NC_000004.12:g.5665526T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg333Gly	rs1385958586	missense variant	-	NC_000004.12:g.5665523T>C	TOPMed
EVC2	Q86UK5	p.Arg333Ser	rs1326565629	missense variant	-	NC_000004.12:g.5665521T>G	gnomAD
EVC2	Q86UK5	p.His334Arg	rs1314402328	missense variant	-	NC_000004.12:g.5665519T>C	gnomAD
EVC2	Q86UK5	p.His334Tyr	rs1388262646	missense variant	-	NC_000004.12:g.5665520G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg335Pro	rs778713498	missense variant	-	NC_000004.12:g.5665516C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg335Trp	rs148884226	missense variant	-	NC_000004.12:g.5665517G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg335Gln	rs778713498	missense variant	-	NC_000004.12:g.5665516C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val336Gly	COSM4125227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5663245A>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Val336Ile	rs761732269	missense variant	-	NC_000004.12:g.5663246C>T	NCI-TCGA
EVC2	Q86UK5	p.Val336Phe	rs761732269	missense variant	-	NC_000004.12:g.5663246C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Val336Ile	rs761732269	missense variant	-	NC_000004.12:g.5663246C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Trp337Cys	COSM6167377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5663241C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Trp337Arg	rs201555920	missense variant	-	NC_000004.12:g.5663243A>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln338Arg	rs1279351106	missense variant	-	NC_000004.12:g.5663239T>C	gnomAD
EVC2	Q86UK5	p.Tyr339Ter	rs1374307893	stop gained	-	NC_000004.12:g.5663235A>T	TOPMed
EVC2	Q86UK5	p.Ser341Asn	rs749013822	missense variant	-	NC_000004.12:g.5663230C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Lys342Ter	rs767072839	stop gained	-	NC_000004.12:g.5663228T>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Lys342Ter	RCV000665096	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5663228T>A	ClinVar
EVC2	Q86UK5	p.Lys342Arg	rs775193560	missense variant	-	NC_000004.12:g.5663227T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Lys342Glu	rs767072839	missense variant	-	NC_000004.12:g.5663228T>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Pro345Leu	rs145551263	missense variant	-	NC_000004.12:g.5663218G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro347Leu	rs199708349	missense variant	-	NC_000004.12:g.5663212G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro347Gln	rs199708349	missense variant	-	NC_000004.12:g.5663212G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr349Ile	rs376988870	missense variant	-	NC_000004.12:g.5663206G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Ser350Leu	rs369748879	missense variant	-	NC_000004.12:g.5663203G>A	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Ser350Thr	rs758849076	missense variant	-	NC_000004.12:g.5663204A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Asp352His	rs779286784	missense variant	-	NC_000004.12:g.5663198C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp352Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5663198C>T	NCI-TCGA
EVC2	Q86UK5	p.Gly353Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5663195C>A	NCI-TCGA
EVC2	Q86UK5	p.Val354Ala	rs1208770117	missense variant	-	NC_000004.12:g.5663191A>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Val354Met	rs766569633	missense variant	-	NC_000004.12:g.5663192C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val354Met	rs766569633	missense variant	-	NC_000004.12:g.5663192C>T	NCI-TCGA,NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asn355Ser	rs750476718	missense variant	-	NC_000004.12:g.5663188T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Glu356Asp	COSM6100250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5663184C>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asp357Asn	rs376321782	missense variant	-	NC_000004.12:g.5663183C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp357Tyr	rs376321782	missense variant	-	NC_000004.12:g.5663183C>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu360His	rs774401542	missense variant	-	NC_000004.12:g.5663173A>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu360Phe	rs372899006	missense variant	-	NC_000004.12:g.5663174G>A	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Leu360Arg	rs774401542	missense variant	-	NC_000004.12:g.5663173A>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asn361Ser	rs764037503	missense variant	-	NC_000004.12:g.5663170T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp362Asn	rs775010153	missense variant	-	NC_000004.12:g.5663168C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Gln363Glu	rs1331174544	missense variant	-	NC_000004.12:g.5663165G>C	gnomAD
EVC2	Q86UK5	p.Met364Ile	rs769447796	missense variant	-	NC_000004.12:g.5663160C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile365Val	rs887880432	missense variant	-	NC_000004.12:g.5663159T>C	TOPMed
EVC2	Q86UK5	p.Ile367Leu	rs745388254	missense variant	-	NC_000004.12:g.5663153T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Ile367Asn	rs1048304872	missense variant	-	NC_000004.12:g.5663152A>T	TOPMed
EVC2	Q86UK5	p.Ser370Phe	rs770394456	missense variant	-	NC_000004.12:g.5663143G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu371Lys	rs929810328	missense variant	-	NC_000004.12:g.5663141C>T	TOPMed
EVC2	Q86UK5	p.Glu371Ter	RCV000507763	frameshift	-	NC_000004.12:g.5663143del	ClinVar
EVC2	Q86UK5	p.Asp372His	rs755352456	missense variant	-	NC_000004.12:g.5663138C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Asp372Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5663138C>A	NCI-TCGA
EVC2	Q86UK5	p.Pro373Ala	rs369357769	missense variant	-	NC_000004.12:g.5663135G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro373Ser	rs369357769	missense variant	-	NC_000004.12:g.5663135G>A	NCI-TCGA
EVC2	Q86UK5	p.Pro373Ser	rs369357769	missense variant	-	NC_000004.12:g.5663135G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly374Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5663132C>T	NCI-TCGA
EVC2	Q86UK5	p.Ser375Thr	COSM1567298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5663128C>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ser375Asn	rs1009838703	missense variant	-	NC_000004.12:g.5663128C>T	TOPMed
EVC2	Q86UK5	p.Gln378Glu	rs184703595	missense variant	-	NC_000004.12:g.5663120G>C	1000Genomes
EVC2	Q86UK5	p.Gln378Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5663119T>G	NCI-TCGA
EVC2	Q86UK5	p.Ala379Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5663116G>A	NCI-TCGA
EVC2	Q86UK5	p.Leu380Ser	rs1414769340	missense variant	-	NC_000004.12:g.5663113A>G	gnomAD
EVC2	Q86UK5	p.Ile385Val	rs147667929	missense variant	-	NC_000004.12:g.5640831T>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile385Phe	rs147667929	missense variant	-	NC_000004.12:g.5640831T>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile385Thr	RCV000377763	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640830A>G	ClinVar
EVC2	Q86UK5	p.Ile385Thr	rs780517206	missense variant	-	NC_000004.12:g.5640830A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Ala386Pro	rs770026240	missense variant	-	NC_000004.12:g.5640828C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr387Ala	rs1206648663	missense variant	-	NC_000004.12:g.5640825T>C	gnomAD
EVC2	Q86UK5	p.Arg390Trp	rs199826018	missense variant	-	NC_000004.12:g.5640816G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg390Gln	rs367655073	missense variant	-	NC_000004.12:g.5640815C>T	1000Genomes,ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Arg390Gln	RCV000594247	missense variant	-	NC_000004.12:g.5640815C>T	ClinVar
EVC2	Q86UK5	p.Ala391Ter	RCV000665250	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640813_5640814delinsG	ClinVar
EVC2	Q86UK5	p.Ala391Gly	rs1368934888	missense variant	-	NC_000004.12:g.5640812G>C	gnomAD
EVC2	Q86UK5	p.Ala391Val	rs1368934888	missense variant	-	NC_000004.12:g.5640812G>A	gnomAD
EVC2	Q86UK5	p.Ala391Ser	rs757414709	missense variant	-	NC_000004.12:g.5640813C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Asp392Gly	rs751649406	missense variant	-	NC_000004.12:g.5640809T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp392Ala	rs751649406	missense variant	-	NC_000004.12:g.5640809T>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp394His	rs1350092724	missense variant	-	NC_000004.12:g.5640804C>G	gnomAD
EVC2	Q86UK5	p.Asp394Tyr	COSM1430304	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640804C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asp394Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5640804C>T	NCI-TCGA
EVC2	Q86UK5	p.Leu395Gln	rs777874498	missense variant	-	NC_000004.12:g.5640800A>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu395Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5640801G>T	NCI-TCGA
EVC2	Q86UK5	p.Glu396Val	rs1291914946	missense variant	-	NC_000004.12:g.5640797T>A	TOPMed
EVC2	Q86UK5	p.Ala397Asp	rs1431675407	missense variant	-	NC_000004.12:g.5640794G>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Cys398Arg	rs1173102415	missense variant	-	NC_000004.12:g.5640792A>G	NCI-TCGA
EVC2	Q86UK5	p.Cys398Arg	rs1173102415	missense variant	-	NC_000004.12:g.5640792A>G	gnomAD
EVC2	Q86UK5	p.Arg399Ter	RCV000578498	nonsense	-	NC_000004.12:g.5640789G>A	ClinVar
EVC2	Q86UK5	p.Arg399Gln	rs866938723	missense variant	-	NC_000004.12:g.5640788C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg399Ter	RCV000003550	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640789G>A	ClinVar
EVC2	Q86UK5	p.Arg399Ter	RCV000763528	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640789G>A	ClinVar
EVC2	Q86UK5	p.Arg399Gln	rs866938723	missense variant	-	NC_000004.12:g.5640788C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg399Ter	rs137852924	stop gained	-	NC_000004.12:g.5640789G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg399Ter	rs137852924	stop gained	-	NC_000004.12:g.5640789G>A	NCI-TCGA
EVC2	Q86UK5	p.Arg399Ter	RCV000515899	nonsense	Ellis-van Creveld Syndrome	NC_000004.12:g.5640789G>A	ClinVar
EVC2	Q86UK5	p.Arg399Ter	RCV000516144	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000004.12:g.5640789G>A	ClinVar
EVC2	Q86UK5	p.Thr400Ala	RCV000323023	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640786T>C	ClinVar
EVC2	Q86UK5	p.Thr400Ile	rs765142983	missense variant	-	NC_000004.12:g.5640785G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Thr400Ala	rs138972736	missense variant	-	NC_000004.12:g.5640786T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln401Pro	rs1227562994	missense variant	-	NC_000004.12:g.5640782T>G	TOPMed
EVC2	Q86UK5	p.Gln401Lys	COSM3760665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640783G>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Gln401Glu	rs1252048610	missense variant	-	NC_000004.12:g.5640783G>C	gnomAD
EVC2	Q86UK5	p.Ile402Leu	rs759236487	missense variant	-	NC_000004.12:g.5640780T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Ser403Arg	rs772660326	missense variant	-	NC_000004.12:g.5640775G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ser403Gly	rs753504773	missense variant	-	NC_000004.12:g.5640777T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Ser403Asn	rs202093384	missense variant	-	NC_000004.12:g.5640776C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Lys404Met	rs1242116459	missense variant	-	NC_000004.12:g.5640773T>A	gnomAD
EVC2	Q86UK5	p.Asp405Val	rs375543647	missense variant	-	NC_000004.12:g.5640770T>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp405Glu	rs775859006	missense variant	-	NC_000004.12:g.5640769A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Asp405Tyr	rs1281421898	missense variant	-	NC_000004.12:g.5640771C>A	gnomAD
EVC2	Q86UK5	p.Asp405Gly	rs375543647	missense variant	-	NC_000004.12:g.5640770T>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile407Leu	rs1264397511	missense variant	-	NC_000004.12:g.5640765T>G	TOPMed
EVC2	Q86UK5	p.Ile407Thr	rs1480693419	missense variant	-	NC_000004.12:g.5640764A>G	TOPMed
EVC2	Q86UK5	p.Ile407Leu	rs1264397511	missense variant	-	NC_000004.12:g.5640765T>G	NCI-TCGA
EVC2	Q86UK5	p.Ala408Val	rs746167767	missense variant	-	NC_000004.12:g.5640761G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Leu409Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5640758A>C	NCI-TCGA
EVC2	Q86UK5	p.Thr415Ile	rs771229648	missense variant	-	NC_000004.12:g.5640740G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ser416Arg	rs1456668736	missense variant	-	NC_000004.12:g.5640736G>T	gnomAD
EVC2	Q86UK5	p.Ser417Arg	rs778036688	missense variant	-	NC_000004.12:g.5640735T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Ser417Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5640734C>A	NCI-TCGA
EVC2	Q86UK5	p.Ser417Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5640735T>A	NCI-TCGA
EVC2	Q86UK5	p.Gly418Asp	rs1161122176	missense variant	-	NC_000004.12:g.5640731C>T	gnomAD
EVC2	Q86UK5	p.His419Arg	rs1473983901	missense variant	-	NC_000004.12:g.5640728T>C	gnomAD
EVC2	Q86UK5	p.Leu420Pro	rs758401132	missense variant	-	NC_000004.12:g.5640725A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser421Leu	rs754809515	missense variant	-	NC_000004.12:g.5640722G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ser421Thr	rs142318910	missense variant	-	NC_000004.12:g.5640723A>T	ESP,TOPMed
EVC2	Q86UK5	p.Gln423Lys	rs1258808045	missense variant	-	NC_000004.12:g.5640717G>T	TOPMed
EVC2	Q86UK5	p.Val424Ala	rs1214227728	missense variant	-	NC_000004.12:g.5640713A>G	gnomAD
EVC2	Q86UK5	p.Val424Leu	rs1239696128	missense variant	-	NC_000004.12:g.5640714C>G	gnomAD
EVC2	Q86UK5	p.Glu425Asp	rs766046354	missense variant	-	NC_000004.12:g.5640709C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg426Gly	rs1367924126	missense variant	-	NC_000004.12:g.5640708T>C	TOPMed
EVC2	Q86UK5	p.Met428Ile	rs760369547	missense variant	-	NC_000004.12:g.5640700C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Met428Ile	COSM4923978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640700C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Met428Leu	rs1269089835	missense variant	-	NC_000004.12:g.5640702T>G	gnomAD
EVC2	Q86UK5	p.Ala430Thr	rs559999180	missense variant	-	NC_000004.12:g.5640696C>T	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Ala430Gly	rs1228931835	missense variant	-	NC_000004.12:g.5640695G>C	gnomAD
EVC2	Q86UK5	p.Val431Ile	rs1170648594	missense variant	-	NC_000004.12:g.5640693C>T	TOPMed
EVC2	Q86UK5	p.Phe432Ser	RCV000534572	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640689A>G	ClinVar
EVC2	Q86UK5	p.Phe432Ser	rs1381375453	missense variant	-	NC_000004.12:g.5640689A>G	gnomAD
EVC2	Q86UK5	p.Lys434Asn	rs542926578	missense variant	-	NC_000004.12:g.5640682C>G	1000Genomes,ExAC
EVC2	Q86UK5	p.Lys434Arg	rs761217018	missense variant	-	NC_000004.12:g.5640683T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Lys434Asn	rs542926578	missense variant	-	NC_000004.12:g.5640682C>A	1000Genomes,ExAC
EVC2	Q86UK5	p.Gln435Ter	rs1369020144	stop gained	-	NC_000004.12:g.5640681G>A	TOPMed
EVC2	Q86UK5	p.Gln435AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5640682_5640683insT	NCI-TCGA
EVC2	Q86UK5	p.Leu437Ile	rs1434202396	missense variant	-	NC_000004.12:g.5640675G>T	gnomAD
EVC2	Q86UK5	p.Glu440Val	rs1027714239	missense variant	-	NC_000004.12:g.5640665T>A	TOPMed
EVC2	Q86UK5	p.Ile443Thr	rs1459733035	missense variant	-	NC_000004.12:g.5640656A>G	gnomAD
EVC2	Q86UK5	p.Ile443Val	rs777183697	missense variant	-	NC_000004.12:g.5640657T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln444Glu	rs372215987	missense variant	-	NC_000004.12:g.5640654G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln444Ter	rs372215987	stop gained	-	NC_000004.12:g.5640654G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu445Gly	rs1425223751	missense variant	-	NC_000004.12:g.5640650T>C	gnomAD
EVC2	Q86UK5	p.Glu446Lys	rs1416713596	missense variant	-	NC_000004.12:g.5640648C>T	gnomAD
EVC2	Q86UK5	p.Glu446Lys	rs1416713596	missense variant	-	NC_000004.12:g.5640648C>T	NCI-TCGA
EVC2	Q86UK5	p.Asp448Asn	rs748111872	missense variant	-	NC_000004.12:g.5640642C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp448Tyr	rs748111872	missense variant	-	NC_000004.12:g.5640642C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg449Gln	rs774976776	missense variant	-	NC_000004.12:g.5640638C>T	NCI-TCGA,NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg449Gln	rs774976776	missense variant	-	NC_000004.12:g.5640638C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg449Trp	rs778943940	missense variant	-	NC_000004.12:g.5640639G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg449Trp	rs778943940	missense variant	-	NC_000004.12:g.5640639G>A	NCI-TCGA
EVC2	Q86UK5	p.Arg449Gln	RCV000327838	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640638C>T	ClinVar
EVC2	Q86UK5	p.Lys450Asn	rs749205674	missense variant	-	NC_000004.12:g.5640634C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Lys450Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5640635T>A	NCI-TCGA
EVC2	Q86UK5	p.Met451Ile	rs755900355	missense variant	-	NC_000004.12:g.5640631C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met451Ile	rs755900355	missense variant	-	NC_000004.12:g.5640631C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met451Val	rs779865273	missense variant	-	NC_000004.12:g.5640633T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala453Ser	rs750135433	missense variant	-	NC_000004.12:g.5640627C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Thr455Arg	rs141287105	missense variant	-	NC_000004.12:g.5640620G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr455Arg	RCV000173922	missense variant	-	NC_000004.12:g.5640620G>C	ClinVar
EVC2	Q86UK5	p.Glu457Asp	rs368371226	missense variant	-	NC_000004.12:g.5640613T>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu457Val	rs756822099	missense variant	-	NC_000004.12:g.5640614T>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu457Asp	RCV000367450	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640613T>G	ClinVar
EVC2	Q86UK5	p.Leu460Arg	rs1263538554	missense variant	-	NC_000004.12:g.5640605A>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Thr462Ala	rs73063795	missense variant	-	NC_000004.12:g.5640600T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr462Ala	RCV000312824	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5640600T>C	ClinVar
EVC2	Q86UK5	p.Arg463Thr	COSM3825998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640596C>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg463Ter	RCV000670534	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5640597_5640598del	ClinVar
EVC2	Q86UK5	p.Lys464Glu	rs1352465948	missense variant	-	NC_000004.12:g.5640594T>C	gnomAD
EVC2	Q86UK5	p.Met466Thr	rs1167397787	missense variant	-	NC_000004.12:g.5640587A>G	gnomAD
EVC2	Q86UK5	p.Met466Ile	rs760156145	missense variant	-	NC_000004.12:g.5640586C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met466Val	rs1440497100	missense variant	-	NC_000004.12:g.5640588T>C	gnomAD
EVC2	Q86UK5	p.Glu467Asp	COSM1056177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640583T>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Glu467Lys	rs377461598	missense variant	-	NC_000004.12:g.5640585C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu467Lys	rs377461598	missense variant	-	NC_000004.12:g.5640585C>T	NCI-TCGA,NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asn468Asp	rs1191015453	missense variant	-	NC_000004.12:g.5640582T>C	gnomAD
EVC2	Q86UK5	p.Tyr470His	rs890717512	missense variant	-	NC_000004.12:g.5640576A>G	gnomAD
EVC2	Q86UK5	p.Gln471Arg	rs766904434	missense variant	-	NC_000004.12:g.5640572T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Gln471His	COSM6167381	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640571C>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg472Lys	rs761060101	missense variant	-	NC_000004.12:g.5640569C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Arg472Ter	COSM6167383	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5640570T>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Glu473Gly	rs772148420	missense variant	-	NC_000004.12:g.5640566T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Ala476Val	rs774347118	missense variant	-	NC_000004.12:g.5640557G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala476Thr	rs748284636	missense variant	-	NC_000004.12:g.5640558C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met477Leu	rs1276196151	missense variant	-	NC_000004.12:g.5640555T>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Met477Ile	rs977107554	missense variant	-	NC_000004.12:g.5640553C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Met477Val	rs1276196151	missense variant	-	NC_000004.12:g.5640555T>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Glu478Lys	rs768691227	missense variant	-	NC_000004.12:g.5640552C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Glu479Lys	rs1208549875	missense variant	-	NC_000004.12:g.5640549C>T	TOPMed
EVC2	Q86UK5	p.Ala480Val	COSM4125219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5640545G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ala480Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5640546C>T	NCI-TCGA
EVC2	Q86UK5	p.Glu481Lys	rs1388356227	missense variant	-	NC_000004.12:g.5640543C>T	gnomAD
EVC2	Q86UK5	p.Glu481Gly	rs200984738	missense variant	-	NC_000004.12:g.5640542T>C	1000Genomes,gnomAD
EVC2	Q86UK5	p.Glu482Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5640540C>A	NCI-TCGA
EVC2	Q86UK5	p.Leu483Phe	rs755918811	missense variant	-	NC_000004.12:g.5640535C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Arg486Cys	rs780919705	missense variant	-	NC_000004.12:g.5640528G>A	NCI-TCGA
EVC2	Q86UK5	p.Arg486His	rs150329661	missense variant	-	NC_000004.12:g.5640527C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg486Cys	rs780919705	missense variant	-	NC_000004.12:g.5640528G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala487Thr	rs751192258	missense variant	-	NC_000004.12:g.5640525C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Gly488Ser	RCV000391787	missense variant	-	NC_000004.12:g.5640522C>T	ClinVar
EVC2	Q86UK5	p.Gly488Ser	rs145277501	missense variant	-	NC_000004.12:g.5640522C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser491Phe	rs1444216093	missense variant	-	NC_000004.12:g.5632031G>A	TOPMed
EVC2	Q86UK5	p.Ser491Cys	rs1444216093	missense variant	-	NC_000004.12:g.5632031G>C	TOPMed
EVC2	Q86UK5	p.Ala492Val	COSM1430280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5632028G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Val493Ile	rs751744985	missense variant	-	NC_000004.12:g.5632026C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val493Leu	rs751744985	missense variant	-	NC_000004.12:g.5632026C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val493Ala	rs202210260	missense variant	-	NC_000004.12:g.5632025A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu494Gln	rs763041096	missense variant	-	NC_000004.12:g.5632023C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu494Gln	rs763041096	missense variant	-	NC_000004.12:g.5632023C>G	NCI-TCGA,NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ser496Gly	rs775594374	missense variant	-	NC_000004.12:g.5632017T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser496Asn	rs1369073088	missense variant	-	NC_000004.12:g.5632016C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg500Trp	rs148248777	missense variant	-	NC_000004.12:g.5632005G>A	NCI-TCGA,NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg500Gln	rs770644264	missense variant	-	NC_000004.12:g.5632004C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg500Trp	rs148248777	missense variant	-	NC_000004.12:g.5632005G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg500Gln	RCV000392727	missense variant	-	NC_000004.12:g.5632004C>T	ClinVar
EVC2	Q86UK5	p.Thr501Ile	rs1209098952	missense variant	-	NC_000004.12:g.5632001G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Leu502His	rs145909403	missense variant	-	NC_000004.12:g.5631998A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu502Arg	rs145909403	missense variant	-	NC_000004.12:g.5631998A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His503Arg	rs1208821826	missense variant	-	NC_000004.12:g.5631995T>C	gnomAD
EVC2	Q86UK5	p.His503Tyr	rs1354561351	missense variant	-	NC_000004.12:g.5631996G>A	gnomAD
EVC2	Q86UK5	p.Gly504Ser	rs747782390	missense variant	-	NC_000004.12:g.5631993C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Glu506Lys	rs1225635390	missense variant	-	NC_000004.12:g.5631987C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Gln507His	rs1297560481	missense variant	-	NC_000004.12:g.5631982C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Gln507His	COSM6167386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631982C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Gln507Pro	rs146333154	missense variant	-	NC_000004.12:g.5631983T>G	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Glu508Gly	rs1391224065	missense variant	-	NC_000004.12:g.5631980T>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Glu508Lys	rs1436502582	missense variant	-	NC_000004.12:g.5631981C>T	gnomAD
EVC2	Q86UK5	p.His509Gln	rs754507157	missense variant	-	NC_000004.12:g.5631976G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His509Asp	rs1321999073	missense variant	-	NC_000004.12:g.5631978G>C	gnomAD
EVC2	Q86UK5	p.Leu510Val	rs1391810700	missense variant	-	NC_000004.12:g.5631975A>C	gnomAD
EVC2	Q86UK5	p.Leu510Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5631973C>A	NCI-TCGA
EVC2	Q86UK5	p.Leu510Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5631975A>T	NCI-TCGA
EVC2	Q86UK5	p.Arg511Thr	rs1447785456	missense variant	-	NC_000004.12:g.5631971C>G	gnomAD
EVC2	Q86UK5	p.Ser513Tyr	COSM3428558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631965G>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ser513Ala	rs781684494	missense variant	-	NC_000004.12:g.5631966A>C	ExAC,gnomAD
EVC2	Q86UK5	p.Leu514Phe	rs757570584	missense variant	-	NC_000004.12:g.5631963G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala515Thr	rs764417189	missense variant	-	NC_000004.12:g.5631960C>T	ExAC,TOPMed
EVC2	Q86UK5	p.Ala515Thr	rs764417189	missense variant	-	NC_000004.12:g.5631960C>T	NCI-TCGA
EVC2	Q86UK5	p.Leu516Met	rs575723160	missense variant	-	NC_000004.12:g.5631957A>T	1000Genomes
EVC2	Q86UK5	p.Gln518Ter	rs752907581	stop gained	-	NC_000004.12:g.5631951G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Glu519Lys	COSM4844454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631948C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Glu519Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5631947T>A	NCI-TCGA
EVC2	Q86UK5	p.Glu520Lys	COSM3604591	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631945C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asp521Tyr	COSM1430279	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631942C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ala523Ser	rs200622704	missense variant	-	NC_000004.12:g.5631936C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala525Val	rs372812834	missense variant	-	NC_000004.12:g.5631929G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His526Pro	rs766297845	missense variant	-	NC_000004.12:g.5631926T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Gln528Arg	rs369076839	missense variant	-	NC_000004.12:g.5631920T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln528Ter	rs1229711187	stop gained	-	NC_000004.12:g.5631921G>A	gnomAD
EVC2	Q86UK5	p.Gln528Arg	RCV000408174	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5631920T>C	ClinVar
EVC2	Q86UK5	p.Ala530Thr	rs576473117	missense variant	-	NC_000004.12:g.5631915C>T	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Ala530Val	rs1329925495	missense variant	-	NC_000004.12:g.5631914G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Ala530Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5631915C>A	NCI-TCGA
EVC2	Q86UK5	p.Val531SerPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5631913_5631914insTTTAGATAACAGGGGAG	NCI-TCGA
EVC2	Q86UK5	p.Phe532Ser	rs1331875628	missense variant	-	NC_000004.12:g.5631908A>G	gnomAD
EVC2	Q86UK5	p.Phe532Leu	rs1319781973	missense variant	-	NC_000004.12:g.5631907G>T	TOPMed
EVC2	Q86UK5	p.Arg534Lys	COSM4914376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5631902C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Glu536Lys	rs1284395468	missense variant	-	NC_000004.12:g.5631897C>T	TOPMed
EVC2	Q86UK5	p.Leu537Arg	rs1428100164	missense variant	-	NC_000004.12:g.5631893A>C	TOPMed,gnomAD
EVC2	Q86UK5	p.His538Asp	rs771963435	missense variant	-	NC_000004.12:g.5631891G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser539Ile	rs747876686	missense variant	-	NC_000004.12:g.5631887C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ser539Gly	rs1431483449	missense variant	-	NC_000004.12:g.5631888T>C	gnomAD
EVC2	Q86UK5	p.Ile540Thr	rs774137577	missense variant	-	NC_000004.12:g.5631884A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile540Met	rs768068789	missense variant	-	NC_000004.12:g.5631883G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile540Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5631885T>C	NCI-TCGA
EVC2	Q86UK5	p.Thr543Ile	rs748768843	missense variant	-	NC_000004.12:g.5631875G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Gln544Pro	rs757828951	missense variant	-	NC_000004.12:g.5631872T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Ile545Thr	rs374645597	missense variant	-	NC_000004.12:g.5631869A>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile545Val	rs1206763206	missense variant	-	NC_000004.12:g.5631870T>C	gnomAD
EVC2	Q86UK5	p.Ile545Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5631870T>G	NCI-TCGA
EVC2	Q86UK5	p.Lys546Thr	rs778083211	missense variant	-	NC_000004.12:g.5631866T>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala548Val	rs758744646	missense variant	-	NC_000004.12:g.5631860G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ile549Val	rs752929789	missense variant	-	NC_000004.12:g.5631858T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Phe550Ser	rs1481256761	missense variant	-	NC_000004.12:g.5631854A>G	TOPMed
EVC2	Q86UK5	p.Gly552Arg	rs372255247	missense variant	-	NC_000004.12:g.5631849C>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly552Ter	RCV000667301	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5631845_5631848del	ClinVar
EVC2	Q86UK5	p.Glu553Gly	rs766349604	missense variant	-	NC_000004.12:g.5631845T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu553Gly	RCV000520119	missense variant	-	NC_000004.12:g.5631845T>C	ClinVar
EVC2	Q86UK5	p.Glu553Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5631846C>T	NCI-TCGA
EVC2	Q86UK5	p.Leu554Ser	rs760736393	missense variant	-	NC_000004.12:g.5631842A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Lys555Asn	rs1175217525	missense variant	-	NC_000004.12:g.5631838T>A	gnomAD
EVC2	Q86UK5	p.Pro556Ser	rs886059491	missense variant	-	NC_000004.12:g.5631837G>A	-
EVC2	Q86UK5	p.Pro556Leu	rs369986020	missense variant	-	NC_000004.12:g.5631836G>A	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Pro556Ser	RCV000336863	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5631837G>A	ClinVar
EVC2	Q86UK5	p.Glu557Gly	rs1011896386	missense variant	-	NC_000004.12:g.5631833T>C	gnomAD
EVC2	Q86UK5	p.Ala558Val	rs1472057052	missense variant	-	NC_000004.12:g.5631830G>A	gnomAD
EVC2	Q86UK5	p.Ala559Thr	rs767478570	missense variant	-	NC_000004.12:g.5631828C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met561Ile	rs1482011754	missense variant	-	NC_000004.12:g.5631820C>G	gnomAD
EVC2	Q86UK5	p.Met561Lys	rs1407087956	missense variant	-	NC_000004.12:g.5631821A>T	TOPMed
EVC2	Q86UK5	p.Met561AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5631821_5631822insT	NCI-TCGA
EVC2	Q86UK5	p.Leu563Arg	rs774155629	missense variant	-	NC_000004.12:g.5631815A>C	ExAC,gnomAD
EVC2	Q86UK5	p.Asn565Tyr	rs748867934	missense variant	-	NC_000004.12:g.5631810T>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asn565His	rs748867934	missense variant	-	NC_000004.12:g.5631810T>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser567Phe	rs775103557	missense variant	-	NC_000004.12:g.5631803G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Lys568Glu	rs769178878	missense variant	-	NC_000004.12:g.5631801T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Ile569Met	rs999269646	missense variant	-	NC_000004.12:g.5631796T>C	gnomAD
EVC2	Q86UK5	p.Gln570Ter	RCV000516037	nonsense	Ellis-van Creveld Syndrome	NC_000004.12:g.5631795G>A	ClinVar
EVC2	Q86UK5	p.Gln570Ter	RCV000515819	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000004.12:g.5631795G>A	ClinVar
EVC2	Q86UK5	p.Gln570His	rs772429683	missense variant	-	NC_000004.12:g.5631793C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Gln570Arg	rs778194782	missense variant	-	NC_000004.12:g.5631794T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Gln570Ter	rs769864196	stop gained	-	NC_000004.12:g.5631795G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln570Ter	RCV000666197	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5631795G>A	ClinVar
EVC2	Q86UK5	p.Gln570Ter	RCV000516102	nonsense	Type IV short rib polydactyly syndrome (SRTD12)	NC_000004.12:g.5631795G>A	ClinVar
EVC2	Q86UK5	p.Glu571Asp	rs756271071	missense variant	-	NC_000004.12:g.5628732C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asn572Ter	RCV000515972	frameshift	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.5628732dup	ClinVar
EVC2	Q86UK5	p.Asn572Lys	rs145286965	missense variant	-	NC_000004.12:g.5628729A>C	ESP,gnomAD
EVC2	Q86UK5	p.Val573Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5628727A>G	NCI-TCGA
EVC2	Q86UK5	p.Glu575Gln	rs1187185433	missense variant	-	NC_000004.12:g.5628722C>G	gnomAD
EVC2	Q86UK5	p.Glu575SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5628722C>-	NCI-TCGA
EVC2	Q86UK5	p.Leu576Val	rs1354154955	missense variant	-	NC_000004.12:g.5628719A>C	TOPMed
EVC2	Q86UK5	p.Met577Thr	rs113869406	missense variant	-	NC_000004.12:g.5628715A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met577Ile	rs562337541	missense variant	-	NC_000004.12:g.5628714C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met577Thr	RCV000637040	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5628715A>G	ClinVar
EVC2	Q86UK5	p.Met577Thr	RCV000611448	missense variant	-	NC_000004.12:g.5628715A>G	ClinVar
EVC2	Q86UK5	p.Asp578Glu	rs1212989007	missense variant	-	NC_000004.12:g.5628711G>C	TOPMed
EVC2	Q86UK5	p.Asp578Asn	rs757316188	missense variant	-	NC_000004.12:g.5628713C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Phe579Val	rs751443991	missense variant	-	NC_000004.12:g.5628710A>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln581Ter	rs1348299542	stop gained	-	NC_000004.12:g.5628704G>A	TOPMed
EVC2	Q86UK5	p.Gln581Arg	rs1212805869	missense variant	-	NC_000004.12:g.5628703T>C	TOPMed
EVC2	Q86UK5	p.Gln581ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5628705_5628706insA	NCI-TCGA
EVC2	Q86UK5	p.Ala582Ser	rs1265132728	missense variant	-	NC_000004.12:g.5628701C>A	gnomAD
EVC2	Q86UK5	p.Ser583Cys	rs1222356750	missense variant	-	NC_000004.12:g.5628698T>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Ser583Arg	rs1222356750	missense variant	-	NC_000004.12:g.5628698T>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Lys584Glu	rs764004181	missense variant	-	NC_000004.12:g.5628695T>C	ExAC
EVC2	Q86UK5	p.Arg585Trp	rs752398130	missense variant	-	NC_000004.12:g.5628692T>A	ExAC,gnomAD
EVC2	Q86UK5	p.Arg585Lys	rs764828208	missense variant	-	NC_000004.12:g.5628691C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Leu588Val	rs1297456994	missense variant	-	NC_000004.12:g.5628683G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Ser589Thr	rs776164794	missense variant	-	NC_000004.12:g.5628679C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Arg591Ile	COSM5355791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5628673C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Phe592Cys	rs770398555	missense variant	-	NC_000004.12:g.5628670A>C	ExAC,gnomAD
EVC2	Q86UK5	p.Arg595Ser	rs762450512	missense variant	-	NC_000004.12:g.5628660C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu596Gly	rs774707822	missense variant	-	NC_000004.12:g.5628658T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Tyr597Ser	rs769078201	missense variant	-	NC_000004.12:g.5628655T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Val599Ile	rs749553549	missense variant	-	NC_000004.12:g.5628650C>T	ExAC
EVC2	Q86UK5	p.Asn601Ser	rs775815805	missense variant	-	NC_000004.12:g.5628643T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Asn601Lys	rs942707279	missense variant	-	NC_000004.12:g.5628642G>T	TOPMed
EVC2	Q86UK5	p.Leu602Ile	rs770095404	missense variant	-	NC_000004.12:g.5628641G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Leu602Phe	rs770095404	missense variant	-	NC_000004.12:g.5628641G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Gln603Pro	rs746069003	missense variant	-	NC_000004.12:g.5628637T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Ser605Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5628632A>G	NCI-TCGA
EVC2	Q86UK5	p.Glu606Lys	rs1395353793	missense variant	-	NC_000004.12:g.5628629C>T	TOPMed
EVC2	Q86UK5	p.Glu606Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5628627C>A	NCI-TCGA
EVC2	Q86UK5	p.Arg608His	RCV000541200	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5628622C>T	ClinVar
EVC2	Q86UK5	p.Arg608Leu	rs145693546	missense variant	-	NC_000004.12:g.5628622C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg608His	rs145693546	missense variant	-	NC_000004.12:g.5628622C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg608Cys	rs371876802	missense variant	-	NC_000004.12:g.5628623G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val609Met	rs374725146	missense variant	-	NC_000004.12:g.5628620C>T	ESP,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu612Phe	rs752385254	missense variant	-	NC_000004.12:g.5628611G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ser614Ile	COSM4859598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5628604C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Thr615Ile	rs764992658	missense variant	-	NC_000004.12:g.5628601G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ala616Thr	rs201201603	missense variant	-	NC_000004.12:g.5628599C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala616Thr	RCV000818711	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5628599C>T	ClinVar
EVC2	Q86UK5	p.Ala616Thr	RCV000379613	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5628599C>T	ClinVar
EVC2	Q86UK5	p.Ala618Thr	rs765933739	missense variant	-	NC_000004.12:g.5628593C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala618Asp	rs191166443	missense variant	-	NC_000004.12:g.5628592G>T	1000Genomes
EVC2	Q86UK5	p.Gln619Ter	RCV000003551	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5628590G>A	ClinVar
EVC2	Q86UK5	p.Gln619Ter	rs137852925	stop gained	-	NC_000004.12:g.5628590G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu620Val	rs1016676371	missense variant	-	NC_000004.12:g.5628587G>C	TOPMed
EVC2	Q86UK5	p.Thr621Ser	rs1286284839	missense variant	-	NC_000004.12:g.5628584T>A	TOPMed
EVC2	Q86UK5	p.His622Gln	rs1300374301	missense variant	-	NC_000004.12:g.5628579G>T	gnomAD
EVC2	Q86UK5	p.His622Tyr	rs1409953573	missense variant	-	NC_000004.12:g.5628581G>A	gnomAD
EVC2	Q86UK5	p.His622Leu	rs776049384	missense variant	-	NC_000004.12:g.5628580T>A	ExAC,gnomAD
EVC2	Q86UK5	p.His622Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5628579G>C	NCI-TCGA
EVC2	Q86UK5	p.Leu623Ile	rs1444755113	missense variant	-	NC_000004.12:g.5628578G>T	TOPMed
EVC2	Q86UK5	p.Leu623Pro	rs1465002903	missense variant	-	NC_000004.12:g.5628577A>G	gnomAD
EVC2	Q86UK5	p.Ile624Leu	rs1177607224	missense variant	-	NC_000004.12:g.5628575T>G	gnomAD
EVC2	Q86UK5	p.Gln625Lys	rs746147381	missense variant	-	NC_000004.12:g.5628572G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Lys626Asn	rs1001648119	missense variant	-	NC_000004.12:g.5628567C>A	TOPMed
EVC2	Q86UK5	p.His627Pro	rs776932063	missense variant	-	NC_000004.12:g.5628565T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu628Lys	rs186197620	missense variant	-	NC_000004.12:g.5628563C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu628Lys	RCV000506847	missense variant	-	NC_000004.12:g.5628563C>T	ClinVar
EVC2	Q86UK5	p.Glu628Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5628561C>A	NCI-TCGA
EVC2	Q86UK5	p.Ala630Thr	rs200140401	missense variant	-	NC_000004.12:g.5625907C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala630Ser	VAR_035933	Missense	-	-	UniProt
EVC2	Q86UK5	p.Gly631Val	rs770179911	missense variant	-	NC_000004.12:g.5625903C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly631Ala	rs770179911	missense variant	-	NC_000004.12:g.5625903C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly631Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5625903C>T	NCI-TCGA
EVC2	Q86UK5	p.Tyr632Ter	rs779707723	stop gained	-	NC_000004.12:g.5625899G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Asp634Gly	rs780637246	missense variant	-	NC_000004.12:g.5625894T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Glu635Lys	rs372260407	missense variant	-	NC_000004.12:g.5625892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln637His	rs1366322768	missense variant	-	NC_000004.12:g.5625884T>A	gnomAD
EVC2	Q86UK5	p.Gln637Arg	rs765795086	missense variant	-	NC_000004.12:g.5625885T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Met638Arg	rs1247108928	missense variant	-	NC_000004.12:g.5625882A>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Met640Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5625876A>T	NCI-TCGA
EVC2	Q86UK5	p.Leu642Ser	rs760000678	missense variant	-	NC_000004.12:g.5625870A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu643Asp	rs151063193	missense variant	-	NC_000004.12:g.5625866C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu643Gly	rs754303821	missense variant	-	NC_000004.12:g.5625867T>C	ExAC
EVC2	Q86UK5	p.Arg644Gln	rs773470850	missense variant	-	NC_000004.12:g.5625864C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg644Trp	rs760871098	missense variant	-	NC_000004.12:g.5625865G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg644Leu	rs773470850	missense variant	-	NC_000004.12:g.5625864C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala645LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5625862C>-	NCI-TCGA
EVC2	Q86UK5	p.Gln646Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5625859G>A	NCI-TCGA
EVC2	Q86UK5	p.Thr647Ala	rs1320934967	missense variant	-	NC_000004.12:g.5625856T>C	TOPMed
EVC2	Q86UK5	p.PheSerIleLysGlnLys650Ter	rs1431987950	stop gained	-	NC_000004.12:g.5625832_5625846del	gnomAD
EVC2	Q86UK5	p.Phe650Ter	RCV000673978	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5625832_5625846del	ClinVar
EVC2	Q86UK5	p.Ser651Leu	rs1010336930	missense variant	-	NC_000004.12:g.5625843G>A	TOPMed
EVC2	Q86UK5	p.Ile652Val	RCV000435386	missense variant	-	NC_000004.12:g.5625841T>C	ClinVar
EVC2	Q86UK5	p.Ile652Val	rs144670544	missense variant	-	NC_000004.12:g.5625841T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Lys653Arg	rs139678716	missense variant	-	NC_000004.12:g.5625837T>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu656Ser	rs1367694162	missense variant	-	NC_000004.12:g.5625828A>G	TOPMed
EVC2	Q86UK5	p.Asp657Gly	rs768535791	missense variant	-	NC_000004.12:g.5625825T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Asp659Tyr	rs1165551466	missense variant	-	NC_000004.12:g.5625820C>A	gnomAD
EVC2	Q86UK5	p.Asp659Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5625820C>T	NCI-TCGA
EVC2	Q86UK5	p.Lys661Asn	COSM3301647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5625812C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Glu663Gly	rs749205651	missense variant	-	NC_000004.12:g.5625807T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Lys664ArgPheSerTerUnk	COSM1430275	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5625804T>-	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Lys664Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5625803C>A	NCI-TCGA
EVC2	Q86UK5	p.Lys665Ile	rs769629928	missense variant	-	NC_000004.12:g.5625801T>A	ExAC,gnomAD
EVC2	Q86UK5	p.Lys665Glu	rs779756323	missense variant	-	NC_000004.12:g.5625802T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Lys666Arg	rs745516521	missense variant	-	NC_000004.12:g.5625798T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Leu667Phe	COSM1430274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5625796G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Leu667Pro	COSM1486015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5625795A>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Gln669Pro	rs1269107887	missense variant	-	NC_000004.12:g.5625789T>G	TOPMed
EVC2	Q86UK5	p.Leu671Val	rs1490416377	missense variant	-	NC_000004.12:g.5625784A>C	gnomAD
EVC2	Q86UK5	p.Leu671Ter	rs1346675689	stop gained	-	NC_000004.12:g.5625783A>C	gnomAD
EVC2	Q86UK5	p.Leu671Phe	rs1270336297	missense variant	-	NC_000004.12:g.5625782T>A	gnomAD
EVC2	Q86UK5	p.Ile672Lys	rs777398767	missense variant	-	NC_000004.12:g.5625780A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ile672Val	rs751062042	missense variant	-	NC_000004.12:g.5625781T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Lys674Arg	rs755581679	missense variant	-	NC_000004.12:g.5625774T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Arg675Gly	rs754390055	missense variant	-	NC_000004.12:g.5625772T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg677Ter	RCV000665358	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5625766G>A	ClinVar
EVC2	Q86UK5	p.Arg677Pro	rs369923617	missense variant	-	NC_000004.12:g.5625765C>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg677Gln	rs369923617	missense variant	-	NC_000004.12:g.5625765C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg677Ter	rs73198165	stop gained	-	NC_000004.12:g.5625766G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu680Pro	rs148407223	missense variant	-	NC_000004.12:g.5625756A>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu680Pro	RCV000406998	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5625756A>G	ClinVar
EVC2	Q86UK5	p.Gln681Pro	rs761904734	missense variant	-	NC_000004.12:g.5625753T>G	ExAC
EVC2	Q86UK5	p.His683Asp	rs781606596	missense variant	-	NC_000004.12:g.5622991G>C	ExAC,gnomAD
EVC2	Q86UK5	p.His683Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622990T>G	NCI-TCGA
EVC2	Q86UK5	p.Arg684Lys	rs1183344146	missense variant	-	NC_000004.12:g.5622987C>T	gnomAD
EVC2	Q86UK5	p.Glu685Lys	rs757608690	missense variant	-	NC_000004.12:g.5622985C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg687His	RCV000494449	missense variant	-	NC_000004.12:g.5622978C>T	ClinVar
EVC2	Q86UK5	p.Arg687Gly	rs368851256	missense variant	-	NC_000004.12:g.5622979G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg687Leu	rs144420242	missense variant	-	NC_000004.12:g.5622978C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg687His	rs144420242	missense variant	-	NC_000004.12:g.5622978C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg687Cys	rs368851256	missense variant	-	NC_000004.12:g.5622979G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg687His	RCV000765772	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622978C>T	ClinVar
EVC2	Q86UK5	p.Arg688Lys	rs752868137	missense variant	-	NC_000004.12:g.5622975C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Arg688Ser	rs1337341467	missense variant	-	NC_000004.12:g.5622974C>G	TOPMed
EVC2	Q86UK5	p.Ala691Val	rs1453331008	missense variant	-	NC_000004.12:g.5622966G>A	gnomAD
EVC2	Q86UK5	p.Ala691Thr	rs1314239464	missense variant	-	NC_000004.12:g.5622967C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Ser692Tyr	rs1318313186	missense variant	-	NC_000004.12:g.5622963G>T	gnomAD
EVC2	Q86UK5	p.Val693Ile	rs199824658	missense variant	-	NC_000004.12:g.5622961C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly694Ser	rs773029841	missense variant	-	NC_000004.12:g.5622958C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly694Asp	rs771804036	missense variant	-	NC_000004.12:g.5622957C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Glu695Lys	rs773955048	missense variant	-	NC_000004.12:g.5622955C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala696Gly	rs746449125	missense variant	-	NC_000004.12:g.5622951G>C	ExAC
EVC2	Q86UK5	p.Ala696Pro	rs768050258	missense variant	-	NC_000004.12:g.5622952C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Ala696Thr	rs768050258	missense variant	-	NC_000004.12:g.5622952C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Phe697Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622949A>G	NCI-TCGA
EVC2	Q86UK5	p.Arg698Ter	rs781623802	stop gained	-	NC_000004.12:g.5622946G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg698Gln	rs771312318	missense variant	-	NC_000004.12:g.5622945C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg698Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622945C>G	NCI-TCGA
EVC2	Q86UK5	p.Thr699Ala	RCV000250571	missense variant	-	NC_000004.12:g.5622943T>C	ClinVar
EVC2	Q86UK5	p.Thr699Ala	rs730469	missense variant	-	NC_000004.12:g.5622943T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr699Met	rs778086528	missense variant	-	NC_000004.12:g.5622942G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr699Ala	RCV000349643	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622943T>C	ClinVar
EVC2	Q86UK5	p.Val700Ile	rs752857293	missense variant	-	NC_000004.12:g.5622940C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu701Asp	rs1361577884	missense variant	-	NC_000004.12:g.5622935C>G	gnomAD
EVC2	Q86UK5	p.Asp702Gly	rs779105373	missense variant	-	NC_000004.12:g.5622933T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Asp702Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622933T>A	NCI-TCGA
EVC2	Q86UK5	p.Ala703Thr	rs1381479998	missense variant	-	NC_000004.12:g.5622931C>T	gnomAD
EVC2	Q86UK5	p.Ala703Val	rs754954578	missense variant	-	NC_000004.12:g.5622930G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly704Cys	rs867605179	missense variant	-	NC_000004.12:g.5622928C>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly704Ser	rs867605179	missense variant	-	NC_000004.12:g.5622928C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.His708Gln	rs924514803	missense variant	-	NC_000004.12:g.5622914G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Gln709Ter	COSM1486014	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5622913G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Gln709Arg	rs753830665	missense variant	-	NC_000004.12:g.5622912T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Arg711Lys	rs1425827784	missense variant	-	NC_000004.12:g.5622906C>T	gnomAD
EVC2	Q86UK5	p.Ser712Asn	rs371896802	missense variant	-	NC_000004.12:g.5622903C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu713Met	rs143662104	missense variant	-	NC_000004.12:g.5622901G>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu713Val	rs143662104	missense variant	-	NC_000004.12:g.5622901G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met714Val	rs1218391629	missense variant	-	NC_000004.12:g.5622898T>C	TOPMed
EVC2	Q86UK5	p.Met714Thr	rs1264280661	missense variant	-	NC_000004.12:g.5622897A>G	TOPMed
EVC2	Q86UK5	p.Glu715Gly	rs773864526	missense variant	-	NC_000004.12:g.5622894T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Glu716Asp	rs1192920112	missense variant	-	NC_000004.12:g.5622890C>A	TOPMed
EVC2	Q86UK5	p.Gly718Ser	rs762306367	missense variant	-	NC_000004.12:g.5622886C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly718Asp	rs1256824226	missense variant	-	NC_000004.12:g.5622885C>T	gnomAD
EVC2	Q86UK5	p.Thr720Asn	rs201181221	missense variant	-	NC_000004.12:g.5622879G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr720Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622880T>C	NCI-TCGA
EVC2	Q86UK5	p.Leu721Pro	rs1307819549	missense variant	-	NC_000004.12:g.5622876A>G	gnomAD
EVC2	Q86UK5	p.Leu721Val	rs1226632645	missense variant	-	NC_000004.12:g.5622877G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Leu721Gln	rs1307819549	missense variant	-	NC_000004.12:g.5622876A>T	gnomAD
EVC2	Q86UK5	p.Leu721Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622877G>T	NCI-TCGA
EVC2	Q86UK5	p.Glu722Gln	rs778174331	missense variant	-	NC_000004.12:g.5622874C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu722Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622872C>A	NCI-TCGA
EVC2	Q86UK5	p.Leu724Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622867A>T	NCI-TCGA
EVC2	Q86UK5	p.Gln725Arg	rs778935159	missense variant	-	NC_000004.12:g.5622864T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Gln725Ter	rs570546202	stop gained	-	NC_000004.12:g.5622865G>A	1000Genomes
EVC2	Q86UK5	p.Arg727His	rs140363692	missense variant	-	NC_000004.12:g.5622858C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg727Cys	rs755359832	missense variant	-	NC_000004.12:g.5622859G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Arg727His	RCV000756100	missense variant	-	NC_000004.12:g.5622858C>T	ClinVar
EVC2	Q86UK5	p.Ala732Ser	rs767405733	missense variant	-	NC_000004.12:g.5622844C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala732Thr	rs767405733	missense variant	-	NC_000004.12:g.5622844C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala732Val	rs1479577183	missense variant	-	NC_000004.12:g.5622843G>A	gnomAD
EVC2	Q86UK5	p.Asp734Glu	COSM3604586	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622836G>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asp735Asn	rs763600300	missense variant	-	NC_000004.12:g.5622835C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Asp735Val	rs1248547983	missense variant	-	NC_000004.12:g.5622834T>A	gnomAD
EVC2	Q86UK5	p.Leu736Phe	COSM447959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622832G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg737Lys	rs1480925109	missense variant	-	NC_000004.12:g.5622828C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Thr740Ile	rs775019250	missense variant	-	NC_000004.12:g.5622819G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu741Val	rs954137204	missense variant	-	NC_000004.12:g.5622817G>C	TOPMed
EVC2	Q86UK5	p.Leu741Phe	COSM3604582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622817G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ser742Pro	rs1030104303	missense variant	-	NC_000004.12:g.5622814A>G	TOPMed
EVC2	Q86UK5	p.Ser742Leu	rs764719201	missense variant	-	NC_000004.12:g.5622813G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu745Ala	rs1160540082	missense variant	-	NC_000004.12:g.5622804T>G	TOPMed
EVC2	Q86UK5	p.Ala747Ser	rs961642597	missense variant	-	NC_000004.12:g.5622799C>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Thr748Ala	rs773649031	missense variant	-	NC_000004.12:g.5622796T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Asp749Asn	rs1300233955	missense variant	-	NC_000004.12:g.5622793C>T	gnomAD
EVC2	Q86UK5	p.Asp749ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5622793C>-	NCI-TCGA
EVC2	Q86UK5	p.Glu750Lys	rs144270330	missense variant	-	NC_000004.12:g.5622790C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu750Gly	rs768810603	missense variant	-	NC_000004.12:g.5622789T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu750Lys	RCV000388852	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622790C>T	ClinVar
EVC2	Q86UK5	p.Leu751Val	rs888630474	missense variant	-	NC_000004.12:g.5622787G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Leu751Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622787G>T	NCI-TCGA
EVC2	Q86UK5	p.Arg752Trp	rs532778814	missense variant	-	NC_000004.12:g.5622784G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg752Gln	rs139717271	missense variant	-	NC_000004.12:g.5622783C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg752Trp	RCV000352023	missense variant	-	NC_000004.12:g.5622784G>A	ClinVar
EVC2	Q86UK5	p.Arg752Pro	rs139717271	missense variant	-	NC_000004.12:g.5622783C>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg753Cys	RCV000637034	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622781G>A	ClinVar
EVC2	Q86UK5	p.Arg753Cys	RCV000315693	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622781G>A	ClinVar
EVC2	Q86UK5	p.Arg753His	rs370964676	missense variant	-	NC_000004.12:g.5622780C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg753Cys	rs375693723	missense variant	-	NC_000004.12:g.5622781G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln755Ter	RCV000763526	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622775G>A	ClinVar
EVC2	Q86UK5	p.Gln755Ter	rs751356206	stop gained	-	NC_000004.12:g.5622775G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln755Ter	RCV000724018	nonsense	-	NC_000004.12:g.5622775G>A	ClinVar
EVC2	Q86UK5	p.Asn756Asp	COSM4125204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622772T>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asn756Thr	rs146837459	missense variant	-	NC_000004.12:g.5622771T>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met759Val	rs758111384	missense variant	-	NC_000004.12:g.5622763T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met759Ile	rs1259627517	missense variant	-	NC_000004.12:g.5622761C>G	gnomAD
EVC2	Q86UK5	p.Gln761Arg	rs1178974568	missense variant	-	NC_000004.12:g.5622756T>C	TOPMed
EVC2	Q86UK5	p.Gln761Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622756T>A	NCI-TCGA
EVC2	Q86UK5	p.Lys765Glu	rs1239188801	missense variant	-	NC_000004.12:g.5622745T>C	gnomAD
EVC2	Q86UK5	p.Arg766Leu	rs149854557	missense variant	-	NC_000004.12:g.5622741C>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg766His	rs149854557	missense variant	-	NC_000004.12:g.5622741C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg766Cys	rs376238707	missense variant	-	NC_000004.12:g.5622742G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg766Ser	rs376238707	missense variant	-	NC_000004.12:g.5622742G>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val768Ala	rs1382406140	missense variant	-	NC_000004.12:g.5622735A>G	gnomAD
EVC2	Q86UK5	p.Pro769Ser	rs1454769055	missense variant	-	NC_000004.12:g.5622733G>A	gnomAD
EVC2	Q86UK5	p.Trp770Arg	rs1467163207	missense variant	-	NC_000004.12:g.5622730A>G	TOPMed
EVC2	Q86UK5	p.Trp770Cys	rs572056540	missense variant	-	NC_000004.12:g.5622728C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Trp770Ter	rs572056540	stop gained	-	NC_000004.12:g.5622728C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln774Glu	rs1161530763	missense variant	-	NC_000004.12:g.5622718G>C	gnomAD
EVC2	Q86UK5	p.Gln774Ter	rs1161530763	stop gained	-	NC_000004.12:g.5622718G>A	gnomAD
EVC2	Q86UK5	p.Glu778Gln	rs1243518404	missense variant	-	NC_000004.12:g.5622706C>G	gnomAD
EVC2	Q86UK5	p.Glu778Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5622706C>A	NCI-TCGA
EVC2	Q86UK5	p.Glu779Lys	rs770002511	missense variant	-	NC_000004.12:g.5622703C>T	ExAC,gnomAD
EVC2	Q86UK5	p.His780Gln	rs150691722	missense variant	-	NC_000004.12:g.5622698G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly781Asp	rs781305791	missense variant	-	NC_000004.12:g.5622696C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly781Ser	rs1272970867	missense variant	-	NC_000004.12:g.5622697C>T	TOPMed
EVC2	Q86UK5	p.Met784Thr	rs758129812	missense variant	-	NC_000004.12:g.5622687A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Met784Leu	rs202191109	missense variant	-	NC_000004.12:g.5622688T>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met784Val	rs202191109	missense variant	-	NC_000004.12:g.5622688T>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met784Val	RCV000658466	missense variant	-	NC_000004.12:g.5622688T>C	ClinVar
EVC2	Q86UK5	p.Ala786Val	rs1182522981	missense variant	-	NC_000004.12:g.5622681G>A	TOPMed
EVC2	Q86UK5	p.Ala786Ser	rs1316162442	missense variant	-	NC_000004.12:g.5622682C>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Ala786Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622682C>G	NCI-TCGA
EVC2	Q86UK5	p.Arg787Trp	RCV000714815	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622679G>A	ClinVar
EVC2	Q86UK5	p.Arg787Gln	rs1392104625	missense variant	-	NC_000004.12:g.5622678C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg787Trp	RCV000260482	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622679G>A	ClinVar
EVC2	Q86UK5	p.Arg787Trp	RCV000714816	missense variant	Curry-Hall syndrome (WAD)	NC_000004.12:g.5622679G>A	ClinVar
EVC2	Q86UK5	p.Arg787Trp	rs776830520	missense variant	-	NC_000004.12:g.5622679G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg787Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622679G>C	NCI-TCGA
EVC2	Q86UK5	p.Arg787Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622678C>G	NCI-TCGA
EVC2	Q86UK5	p.Ala788Val	rs376048508	missense variant	-	NC_000004.12:g.5622675G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu789Lys	rs765883164	missense variant	-	NC_000004.12:g.5622673C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu789Gln	rs765883164	missense variant	-	NC_000004.12:g.5622673C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu789Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622671C>A	NCI-TCGA
EVC2	Q86UK5	p.Glu792Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622664C>T	NCI-TCGA
EVC2	Q86UK5	p.Gly793Trp	rs141172036	missense variant	-	NC_000004.12:g.5622661C>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly793Arg	rs141172036	missense variant	-	NC_000004.12:g.5622661C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly793Arg	rs141172036	missense variant	-	NC_000004.12:g.5622661C>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu794ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5622658C>-	NCI-TCGA
EVC2	Q86UK5	p.Glu794Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622658C>T	NCI-TCGA
EVC2	Q86UK5	p.Arg796Gly	rs1457552316	missense variant	-	NC_000004.12:g.5622652T>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg796Thr	rs1165216652	missense variant	-	NC_000004.12:g.5622651C>G	gnomAD
EVC2	Q86UK5	p.Asp797Tyr	COSM4858418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622649C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg798Lys	rs1193370351	missense variant	-	NC_000004.12:g.5622645C>T	gnomAD
EVC2	Q86UK5	p.Arg798Thr	rs1193370351	missense variant	-	NC_000004.12:g.5622645C>G	gnomAD
EVC2	Q86UK5	p.Arg798Trp	rs148607525	missense variant	-	NC_000004.12:g.5622646T>A	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Arg798Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622644C>G	NCI-TCGA
EVC2	Q86UK5	p.Asp799His	RCV000319438	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622643C>G	ClinVar
EVC2	Q86UK5	p.Asp799His	rs143491078	missense variant	-	NC_000004.12:g.5622643C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln800Ter	rs1282621867	stop gained	-	NC_000004.12:g.5622640G>A	TOPMed
EVC2	Q86UK5	p.Gly802Arg	rs577020845	missense variant	-	NC_000004.12:g.5622634C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val803Ile	rs1293200318	missense variant	-	NC_000004.12:g.5622631C>T	gnomAD
EVC2	Q86UK5	p.Val806Met	RCV000264264	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5622622C>T	ClinVar
EVC2	Q86UK5	p.Val806Met	rs138128087	missense variant	-	NC_000004.12:g.5622622C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg807Ser	rs771884323	missense variant	-	NC_000004.12:g.5622617C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln808His	rs541956407	missense variant	-	NC_000004.12:g.5622614C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala814Thr	rs745640603	missense variant	-	NC_000004.12:g.5622598C>T	gnomAD
EVC2	Q86UK5	p.Ala814Val	rs868418252	missense variant	-	NC_000004.12:g.5622597G>A	TOPMed
EVC2	Q86UK5	p.Ala814Ser	rs745640603	missense variant	-	NC_000004.12:g.5622598C>A	gnomAD
EVC2	Q86UK5	p.Ala814Asp	rs868418252	missense variant	-	NC_000004.12:g.5622597G>T	TOPMed
EVC2	Q86UK5	p.Pro815Ser	rs201210334	missense variant	-	NC_000004.12:g.5622595G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro815Leu	COSM3604574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5622594G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Glu816Lys	rs1023896680	missense variant	-	NC_000004.12:g.5622592C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Glu816Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622590C>A	NCI-TCGA
EVC2	Q86UK5	p.Val818Met	rs779490211	missense variant	-	NC_000004.12:g.5622586C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val818Leu	rs779490211	missense variant	-	NC_000004.12:g.5622586C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu821Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622575C>A	NCI-TCGA
EVC2	Q86UK5	p.Ala823Val	rs376155783	missense variant	-	NC_000004.12:g.5622570G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala823Gly	rs376155783	missense variant	-	NC_000004.12:g.5622570G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala823Glu	rs376155783	missense variant	-	NC_000004.12:g.5622570G>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu824Asp	rs764660722	missense variant	-	NC_000004.12:g.5622566C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Leu825Pro	RCV000703611	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622564A>G	ClinVar
EVC2	Q86UK5	p.Leu825Val	rs774185697	missense variant	-	NC_000004.12:g.5622565G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu825Met	rs774185697	missense variant	-	NC_000004.12:g.5622565G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu825Pro	rs1270446777	missense variant	-	NC_000004.12:g.5622564A>G	gnomAD
EVC2	Q86UK5	p.Arg826Gln	rs1436641687	missense variant	-	NC_000004.12:g.5622561C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg826Ter	rs548681312	stop gained	-	NC_000004.12:g.5622562G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg826Ter	RCV000393643	nonsense	-	NC_000004.12:g.5622562G>A	ClinVar
EVC2	Q86UK5	p.Arg826Ter	RCV000672927	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622562G>A	ClinVar
EVC2	Q86UK5	p.Arg827Cys	rs373953980	missense variant	-	NC_000004.12:g.5622559G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg827His	rs776852815	missense variant	-	NC_000004.12:g.5622558C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Trp828Ter	RCV000668731	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5622554C>T	ClinVar
EVC2	Q86UK5	p.Trp828Ter	rs770918273	stop gained	-	NC_000004.12:g.5622554C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Trp828Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5622555C>G	NCI-TCGA
EVC2	Q86UK5	p.His830Gln	rs944565097	missense variant	-	NC_000004.12:g.5622548G>T	gnomAD
EVC2	Q86UK5	p.His830Tyr	rs773155617	missense variant	-	NC_000004.12:g.5622550G>A	ExAC,gnomAD
EVC2	Q86UK5	p.His830Gln	rs944565097	missense variant	-	NC_000004.12:g.5622548G>C	gnomAD
EVC2	Q86UK5	p.Leu831Gln	rs772046114	missense variant	-	NC_000004.12:g.5622546A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ile832Leu	rs778746884	missense variant	-	NC_000004.12:g.5622544T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Met834Thr	rs1335166223	missense variant	-	NC_000004.12:g.5622537A>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Lys835Asn	rs527993206	missense variant	-	NC_000004.12:g.5618679C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Cys837Tyr	rs748269961	missense variant	-	NC_000004.12:g.5618674C>T	gnomAD
EVC2	Q86UK5	p.Ser842Cys	rs750631490	missense variant	-	NC_000004.12:g.5618659G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser842Pro	rs1429597430	missense variant	-	NC_000004.12:g.5618660A>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Leu843Val	rs1299564230	missense variant	-	NC_000004.12:g.5618657G>C	gnomAD
EVC2	Q86UK5	p.Glu845Gln	rs576455064	missense variant	-	NC_000004.12:g.5618651C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu845Ter	rs576455064	stop gained	-	NC_000004.12:g.5618651C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Glu846Asp	rs1163315482	missense variant	-	NC_000004.12:g.5618646C>G	gnomAD
EVC2	Q86UK5	p.Glu847Asp	rs1445564675	missense variant	-	NC_000004.12:g.5618643C>A	gnomAD
EVC2	Q86UK5	p.Leu848Val	rs1284635680	missense variant	-	NC_000004.12:g.5618642G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Leu849Phe	rs774306509	missense variant	-	NC_000004.12:g.5618639G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Arg850Lys	rs1242760301	missense variant	-	NC_000004.12:g.5618635C>T	gnomAD
EVC2	Q86UK5	p.Met851Val	rs373004013	missense variant	-	NC_000004.12:g.5618633T>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met851Ile	rs545949431	missense variant	-	NC_000004.12:g.5618631C>T	TOPMed
EVC2	Q86UK5	p.Arg852Trp	rs1053353798	missense variant	-	NC_000004.12:g.5618630T>A	TOPMed
EVC2	Q86UK5	p.Gln853Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5618627G>C	NCI-TCGA
EVC2	Q86UK5	p.His856Arg	rs769458751	missense variant	-	NC_000004.12:g.5618617T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His856Gln	rs745525669	missense variant	-	NC_000004.12:g.5618616A>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Cys858Ser	rs746466937	missense variant	-	NC_000004.12:g.5618612A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Cys858Ser	rs777123906	missense variant	-	NC_000004.12:g.5618611C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Phe859Leu	rs542471141	missense variant	-	NC_000004.12:g.5618609A>G	1000Genomes,ExAC
EVC2	Q86UK5	p.Ala860Val	rs749754185	missense variant	-	NC_000004.12:g.5618605G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Gln861His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5618601C>A	NCI-TCGA
EVC2	Q86UK5	p.Met862Ile	COSM6167395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5618598C>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Met862Val	rs1329414715	missense variant	-	NC_000004.12:g.5618600T>C	TOPMed
EVC2	Q86UK5	p.Met862Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5618598C>A	NCI-TCGA
EVC2	Q86UK5	p.Asp863Gly	rs780525637	missense variant	-	NC_000004.12:g.5618596T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp863Val	rs780525637	missense variant	-	NC_000004.12:g.5618596T>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg864Lys	RCV000756101	missense variant	-	NC_000004.12:g.5618593C>T	ClinVar
EVC2	Q86UK5	p.Arg864Thr	rs369531662	missense variant	-	NC_000004.12:g.5618593C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg864Gly	rs756413541	missense variant	-	NC_000004.12:g.5618594T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg864Lys	rs369531662	missense variant	-	NC_000004.12:g.5618593C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala867Ser	rs781355081	missense variant	-	NC_000004.12:g.5618585C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Leu868Phe	rs751690782	missense variant	-	NC_000004.12:g.5618582G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Pro869Leu	rs375398228	missense variant	-	NC_000004.12:g.5618578G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro869Arg	rs375398228	missense variant	-	NC_000004.12:g.5618578G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro869Ser	rs1285441781	missense variant	-	NC_000004.12:g.5618579G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Lys870Arg	rs955333101	missense variant	-	NC_000004.12:g.5618575T>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Lys870Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5618574C>A	NCI-TCGA
EVC2	Q86UK5	p.Ile871Val	rs577623210	missense variant	-	NC_000004.12:g.5618573T>C	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Arg872Gln	rs376941649	missense variant	-	NC_000004.12:g.5618569C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg872Trp	rs557480563	missense variant	-	NC_000004.12:g.5618570G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala873Pro	rs1307693776	missense variant	-	NC_000004.12:g.5618567C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Ala873ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5618567C>-	NCI-TCGA
EVC2	Q86UK5	p.Arg874Pro	rs114764023	missense variant	-	NC_000004.12:g.5618563C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg874Gln	rs114764023	missense variant	-	NC_000004.12:g.5618563C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg874Gln	RCV000266506	missense variant	-	NC_000004.12:g.5618563C>T	ClinVar
EVC2	Q86UK5	p.Arg874Ter	rs760382778	stop gained	-	NC_000004.12:g.5618564G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg874Ter	RCV000702796	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5618564G>A	ClinVar
EVC2	Q86UK5	p.Val875Ile	rs771478207	missense variant	-	NC_000004.12:g.5618561C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Gln878Arg	rs1344248732	missense variant	-	NC_000004.12:g.5618551T>C	gnomAD
EVC2	Q86UK5	p.Gln879Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5618548T>A	NCI-TCGA
EVC2	Q86UK5	p.Gln881His	rs182321411	missense variant	-	NC_000004.12:g.5618541C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln881His	rs182321411	missense variant	-	NC_000004.12:g.5618541C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr882Ala	rs190540235	missense variant	-	NC_000004.12:g.5618540T>C	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr882Ala	RCV000389188	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5618540T>C	ClinVar
EVC2	Q86UK5	p.Ala883Val	rs140951974	missense variant	-	NC_000004.12:g.5618536G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Trp884Ter	rs981099037	stop gained	-	NC_000004.12:g.5618532C>T	-
EVC2	Q86UK5	p.Trp884Ter	RCV000523403	nonsense	-	NC_000004.12:g.5618532C>T	ClinVar
EVC2	Q86UK5	p.Arg885Ter	RCV000023642	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5618531G>A	ClinVar
EVC2	Q86UK5	p.Arg885Ter	rs146538906	stop gained	-	NC_000004.12:g.5618531G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg885Gln	rs201154245	missense variant	-	NC_000004.12:g.5618530C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala887Thr	rs752704825	missense variant	-	NC_000004.12:g.5618525C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Glu888Lys	COSM4845754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5618522C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Val890Met	rs371698182	missense variant	-	NC_000004.12:g.5618516C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val890Glu	rs760470898	missense variant	-	NC_000004.12:g.5618515A>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val890Gly	rs760470898	missense variant	-	NC_000004.12:g.5618515A>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val890Leu	rs371698182	missense variant	-	NC_000004.12:g.5618516C>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val890Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5618515A>G	NCI-TCGA
EVC2	Q86UK5	p.Lys891Glu	rs1176572375	missense variant	-	NC_000004.12:g.5618513T>C	gnomAD
EVC2	Q86UK5	p.Leu892Pro	rs1013594811	missense variant	-	NC_000004.12:g.5618509A>G	TOPMed
EVC2	Q86UK5	p.Asp893Asn	rs1553830511	missense variant	-	NC_000004.12:g.5618507C>T	-
EVC2	Q86UK5	p.Asp893Asn	RCV000658305	missense variant	-	NC_000004.12:g.5618507C>T	ClinVar
EVC2	Q86UK5	p.Gln894His	rs772672973	missense variant	-	NC_000004.12:g.5618502C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln894Leu	rs556658594	missense variant	-	NC_000004.12:g.5618503T>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Ala895Ser	rs202146936	missense variant	-	NC_000004.12:g.5618501C>A	1000Genomes,TOPMed
EVC2	Q86UK5	p.Ala895Val	rs1201319727	missense variant	-	NC_000004.12:g.5618500G>A	gnomAD
EVC2	Q86UK5	p.Val896Met	rs761177898	missense variant	-	NC_000004.12:g.5618498C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala898Val	rs776093627	missense variant	-	NC_000004.12:g.5618491G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Pro899Ala	rs770322843	missense variant	-	NC_000004.12:g.5618489G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Pro899Ser	rs770322843	missense variant	-	NC_000004.12:g.5618489G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Gln902His	rs771222380	missense variant	-	NC_000004.12:g.5618478C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Gln902Arg	rs746349084	missense variant	-	NC_000004.12:g.5618479T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln902Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5618480G>A	NCI-TCGA
EVC2	Q86UK5	p.Gln904Ter	rs1260429265	stop gained	-	NC_000004.12:g.5615541G>A	gnomAD
EVC2	Q86UK5	p.Gln904Arg	rs780090883	missense variant	-	NC_000004.12:g.5615540T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Lys906Gln	rs755966512	missense variant	-	NC_000004.12:g.5615535T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Lys906Glu	rs755966512	missense variant	-	NC_000004.12:g.5615535T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Val907Met	rs1195701165	missense variant	-	NC_000004.12:g.5615532C>T	TOPMed
EVC2	Q86UK5	p.Lys909Asn	rs750222689	missense variant	-	NC_000004.12:g.5615524C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Arg911Pro	rs767317898	missense variant	-	NC_000004.12:g.5615519C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg911Gln	rs767317898	missense variant	-	NC_000004.12:g.5615519C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg911Gln	RCV000328600	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5615519C>T	ClinVar
EVC2	Q86UK5	p.Lys913Asn	rs180747811	missense variant	-	NC_000004.12:g.5615512C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Lys913Asn	RCV000516048	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.5615512C>G	ClinVar
EVC2	Q86UK5	p.Lys915Glu	rs1285169459	missense variant	-	NC_000004.12:g.5615508T>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Ser916Ter	RCV000258000	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5615508del	ClinVar
EVC2	Q86UK5	p.Ser916Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5615504C>T	NCI-TCGA
EVC2	Q86UK5	p.Lys917Asn	rs763611499	missense variant	-	NC_000004.12:g.5615500C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Lys917Glu	rs751203969	missense variant	-	NC_000004.12:g.5615502T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Gly918Ala	rs1400740204	missense variant	-	NC_000004.12:g.5615498C>G	gnomAD
EVC2	Q86UK5	p.Leu920Phe	RCV000263029	missense variant	-	NC_000004.12:g.5615493G>A	ClinVar
EVC2	Q86UK5	p.Leu920Ile	rs762404021	missense variant	-	NC_000004.12:g.5615493G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu920Phe	rs762404021	missense variant	-	NC_000004.12:g.5615493G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu921Met	rs754377858	missense variant	-	NC_000004.12:g.5615490G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Lys923Asn	rs766837833	missense variant	-	NC_000004.12:g.5615482C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Cys924Gly	rs761224381	missense variant	-	NC_000004.12:g.5615481A>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Cys924Phe	rs899110894	missense variant	-	NC_000004.12:g.5615480C>A	TOPMed
EVC2	Q86UK5	p.Ile925Val	rs773508842	missense variant	-	NC_000004.12:g.5615478T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Ile925Met	rs772481704	missense variant	-	NC_000004.12:g.5615476G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu926Lys	rs761946397	missense variant	-	NC_000004.12:g.5615475C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Glu926Lys	RCV000671116	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5615475C>T	ClinVar
EVC2	Q86UK5	p.Lys928Arg	rs774657144	missense variant	-	NC_000004.12:g.5615468T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His930Gln	rs768878731	missense variant	-	NC_000004.12:g.5615461G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu931Phe	RCV000492998	missense variant	-	NC_000004.12:g.5615460G>A	ClinVar
EVC2	Q86UK5	p.Leu931Phe	rs749339159	missense variant	-	NC_000004.12:g.5615460G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.CysGlu932Ter	rs765076649	stop gained	-	NC_000004.12:g.5615456_5615457del	ExAC,gnomAD
EVC2	Q86UK5	p.Glu933Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5615453T>A	NCI-TCGA
EVC2	Q86UK5	p.Gln935His	rs745801169	missense variant	-	NC_000004.12:g.5615446C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Gln935Lys	rs1337669574	missense variant	-	NC_000004.12:g.5615448G>T	gnomAD
EVC2	Q86UK5	p.Ala936Thr	rs780913081	missense variant	-	NC_000004.12:g.5615445C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ser937Phe	rs1304806636	missense variant	-	NC_000004.12:g.5615441G>A	TOPMed
EVC2	Q86UK5	p.Glu938Lys	COSM4125183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5615439C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asp939Asn	rs1281522539	missense variant	-	NC_000004.12:g.5615436C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Asp939Val	rs751238643	missense variant	-	NC_000004.12:g.5615435T>A	ExAC,gnomAD
EVC2	Q86UK5	p.Val941Leu	rs758017642	missense variant	-	NC_000004.12:g.5615430C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Val944Ile	rs1242116322	missense variant	-	NC_000004.12:g.5584850C>T	gnomAD
EVC2	Q86UK5	p.Val944Leu	rs1242116322	missense variant	-	NC_000004.12:g.5584850C>G	gnomAD
EVC2	Q86UK5	p.Arg945Gln	rs369739673	missense variant	-	NC_000004.12:g.5584846C>T	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Arg945Leu	rs369739673	missense variant	-	NC_000004.12:g.5584846C>A	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Arg945Ter	rs1301855639	stop gained	-	NC_000004.12:g.5584847G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg945Gly	rs1301855639	missense variant	-	NC_000004.12:g.5584847G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly946Asp	rs1360376448	missense variant	-	NC_000004.12:g.5584843C>T	gnomAD
EVC2	Q86UK5	p.Glu947Gly	rs1418375862	missense variant	-	NC_000004.12:g.5584840T>C	gnomAD
EVC2	Q86UK5	p.Arg950Leu	rs545856107	missense variant	-	NC_000004.12:g.5584831C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Arg950Trp	rs137852928	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5584832G>A	UniProt,dbSNP
EVC2	Q86UK5	p.Arg950Trp	VAR_017211	missense variant	Ellis-van Creveld syndrome (EVC)	NC_000004.12:g.5584832G>A	UniProt
EVC2	Q86UK5	p.Arg950Trp	rs137852928	missense variant	-	NC_000004.12:g.5584832G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg950Gln	rs545856107	missense variant	-	NC_000004.12:g.5584831C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Arg950Trp	RCV000003554	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5584832G>A	ClinVar
EVC2	Q86UK5	p.Glu951Lys	rs1383783171	missense variant	-	NC_000004.12:g.5584829C>T	gnomAD
EVC2	Q86UK5	p.Glu951Asp	rs1181440074	missense variant	-	NC_000004.12:g.5584827C>G	gnomAD
EVC2	Q86UK5	p.Arg952Thr	rs1473280312	missense variant	-	NC_000004.12:g.5584825C>G	gnomAD
EVC2	Q86UK5	p.Val953Met	rs1239277359	missense variant	-	NC_000004.12:g.5584823C>T	gnomAD
EVC2	Q86UK5	p.Arg955Leu	rs145786485	missense variant	-	NC_000004.12:g.5584816C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg955Gln	RCV000363469	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584816C>T	ClinVar
EVC2	Q86UK5	p.Arg955Trp	rs116502852	missense variant	-	NC_000004.12:g.5584817G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg955Gln	rs145786485	missense variant	-	NC_000004.12:g.5584816C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met956Val	rs1286587616	missense variant	-	NC_000004.12:g.5584814T>C	gnomAD
EVC2	Q86UK5	p.Met956Ile	rs199824570	missense variant	-	NC_000004.12:g.5584812C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala958Val	rs1356938184	missense variant	-	NC_000004.12:g.5584807G>A	gnomAD
EVC2	Q86UK5	p.Gln959Leu	rs1228531350	missense variant	-	NC_000004.12:g.5584804T>A	gnomAD
EVC2	Q86UK5	p.Glu960Ala	rs544432468	missense variant	-	NC_000004.12:g.5584801T>G	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Glu960Asp	rs903682822	missense variant	-	NC_000004.12:g.5584800C>A	TOPMed
EVC2	Q86UK5	p.Gly961Ter	rs1043590599	stop gained	-	NC_000004.12:g.5584799C>A	TOPMed
EVC2	Q86UK5	p.Gly961Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5584799C>T	NCI-TCGA
EVC2	Q86UK5	p.Gly962Ala	rs748869122	missense variant	-	NC_000004.12:g.5584795C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Gly962Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5584795C>T	NCI-TCGA
EVC2	Q86UK5	p.Gln965Ter	rs779407729	stop gained	-	NC_000004.12:g.5584787G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser966Ter	rs145425340	stop gained	-	NC_000004.12:g.5584783G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser966Leu	RCV000765771	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5584783G>A	ClinVar
EVC2	Q86UK5	p.Ser966Leu	RCV000489134	missense variant	-	NC_000004.12:g.5584783G>A	ClinVar
EVC2	Q86UK5	p.Ser966Leu	rs145425340	missense variant	-	NC_000004.12:g.5584783G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu967Phe	rs1183368980	missense variant	-	NC_000004.12:g.5584781G>A	TOPMed
EVC2	Q86UK5	p.Leu967His	rs1414565179	missense variant	-	NC_000004.12:g.5584780A>T	TOPMed
EVC2	Q86UK5	p.Val968Leu	rs764554479	missense variant	-	NC_000004.12:g.5584778C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val968Ile	rs764554479	missense variant	-	NC_000004.12:g.5584778C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala969Val	rs1159058208	missense variant	-	NC_000004.12:g.5584774G>A	TOPMed
EVC2	Q86UK5	p.Ala969Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5584775C>T	NCI-TCGA
EVC2	Q86UK5	p.Gln971Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5584769G>A	NCI-TCGA
EVC2	Q86UK5	p.Phe972Ile	rs758773945	missense variant	-	NC_000004.12:g.5584766A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Phe972Tyr	rs752898085	missense variant	-	NC_000004.12:g.5584765A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Gln973His	rs759657816	missense variant	-	NC_000004.12:g.5584761C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln973Leu	rs765539605	missense variant	-	NC_000004.12:g.5584762T>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ala975Val	rs573195320	missense variant	-	NC_000004.12:g.5584756G>A	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Ala975Glu	rs573195320	missense variant	-	NC_000004.12:g.5584756G>T	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Ser976Cys	COSM1310138	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5584753G>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ser976Pro	rs773076172	missense variant	-	NC_000004.12:g.5584754A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Arg977Gln	rs371489519	missense variant	-	NC_000004.12:g.5584750C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg977Trp	rs140316127	missense variant	-	NC_000004.12:g.5584751G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val978Met	rs773985362	missense variant	-	NC_000004.12:g.5584748C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Thr979Pro	rs768401658	missense variant	-	NC_000004.12:g.5584745T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu980Val	rs1233479114	missense variant	-	NC_000004.12:g.5584741T>A	gnomAD
EVC2	Q86UK5	p.Glu980Lys	rs755614931	missense variant	-	NC_000004.12:g.5584742C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Glu980Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5584740C>G	NCI-TCGA
EVC2	Q86UK5	p.Thr981Ile	rs767378795	missense variant	-	NC_000004.12:g.5584738G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr981Ser	rs767378795	missense variant	-	NC_000004.12:g.5584738G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr981Ser	rs199785101	missense variant	-	NC_000004.12:g.5584739T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser983Leu	rs536732931	missense variant	-	NC_000004.12:g.5584732G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser983Pro	rs758946503	missense variant	-	NC_000004.12:g.5584733A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser983Trp	rs536732931	missense variant	-	NC_000004.12:g.5584732G>C	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala984Asp	COSM1430245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5584729G>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Tyr985Ser	rs753942333	missense variant	-	NC_000004.12:g.5584726T>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr986Ser	rs766463527	missense variant	-	NC_000004.12:g.5584724T>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ala987Thr	rs750392808	missense variant	-	NC_000004.12:g.5584721C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu989Phe	rs1266534048	missense variant	-	NC_000004.12:g.5584715G>A	gnomAD
EVC2	Q86UK5	p.Leu989Pro	rs1191735286	missense variant	-	NC_000004.12:g.5584714A>G	gnomAD
EVC2	Q86UK5	p.Leu989Ile	rs1266534048	missense variant	-	NC_000004.12:g.5584715G>T	gnomAD
EVC2	Q86UK5	p.Ser990Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5584710G>C	NCI-TCGA
EVC2	Q86UK5	p.Gln992Arg	COSM3696680	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5584705T>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asp993Glu	rs761633806	missense variant	-	NC_000004.12:g.5584701G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Leu994Val	VAR_035934	Missense	-	-	UniProt
EVC2	Q86UK5	p.Leu995Val	rs548381022	missense variant	-	NC_000004.12:g.5584697G>C	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Leu995Val	RCV000267482	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584697G>C	ClinVar
EVC2	Q86UK5	p.Leu995Phe	rs548381022	missense variant	-	NC_000004.12:g.5584697G>A	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Glu998Lys	rs762668930	missense variant	-	NC_000004.12:g.5584688C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu998Asp	rs769447158	missense variant	-	NC_000004.12:g.5584686C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu998Ter	rs762668930	stop gained	-	NC_000004.12:g.5584688C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu998Val	rs1206851175	missense variant	-	NC_000004.12:g.5584687T>A	TOPMed
EVC2	Q86UK5	p.Leu999Pro	rs1301138653	missense variant	-	NC_000004.12:g.5584684A>G	gnomAD
EVC2	Q86UK5	p.Ser1000Asn	rs374186161	missense variant	-	NC_000004.12:g.5584681C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1001Ser	rs772696369	missense variant	-	NC_000004.12:g.5584679C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ala1001Val	rs1238592664	missense variant	-	NC_000004.12:g.5584678G>A	TOPMed
EVC2	Q86UK5	p.Ser1002Pro	rs1474034109	missense variant	-	NC_000004.12:g.5584676A>G	TOPMed
EVC2	Q86UK5	p.Glu1003Lys	rs555666020	missense variant	-	NC_000004.12:g.5584673C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met1004Ile	rs779341427	missense variant	-	NC_000004.12:g.5584668C>T	ExAC
EVC2	Q86UK5	p.Thr1006Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5584663G>A	NCI-TCGA
EVC2	Q86UK5	p.Lys1007Arg	COSM4125170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5584660T>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Lys1007Thr	rs727503920	missense variant	-	NC_000004.12:g.5584660T>G	ExAC,gnomAD
EVC2	Q86UK5	p.Lys1007Thr	RCV000153205	missense variant	-	NC_000004.12:g.5584660T>G	ClinVar
EVC2	Q86UK5	p.Ser1008Leu	rs60809236	missense variant	-	NC_000004.12:g.5584657G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1008Ter	rs60809236	stop gained	-	NC_000004.12:g.5584657G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1008Leu	RCV000360037	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584657G>A	ClinVar
EVC2	Q86UK5	p.Cys1010Phe	rs1434900133	missense variant	-	NC_000004.12:g.5584651C>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Ile1013Met	rs751382770	missense variant	-	NC_000004.12:g.5584641G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1014Val	rs75829835	missense variant	-	NC_000004.12:g.5584640G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1014Gln	rs762602210	missense variant	-	NC_000004.12:g.5584639A>T	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1014Val	RCV000302898	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584640G>C	ClinVar
EVC2	Q86UK5	p.Ser1016Leu	rs769623217	missense variant	-	NC_000004.12:g.5584633G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1016Trp	rs769623217	missense variant	-	NC_000004.12:g.5584633G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His1017Tyr	rs1256088223	missense variant	-	NC_000004.12:g.5584631G>A	gnomAD
EVC2	Q86UK5	p.Arg1019Leu	rs573448772	missense variant	-	NC_000004.12:g.5584624C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1019Trp	RCV000393678	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5584625G>A	ClinVar
EVC2	Q86UK5	p.Arg1019Gln	rs573448772	missense variant	-	NC_000004.12:g.5584624C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1019Trp	rs139610006	missense variant	-	NC_000004.12:g.5584625G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu1020Lys	rs1476518508	missense variant	-	NC_000004.12:g.5576454C>T	gnomAD
EVC2	Q86UK5	p.Glu1020Asp	COSM4858945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576452C>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Leu1021Ile	rs772749481	missense variant	-	NC_000004.12:g.5576451G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1021Phe	rs772749481	missense variant	-	NC_000004.12:g.5576451G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1022Pro	rs1193563140	missense variant	-	NC_000004.12:g.5576447T>G	gnomAD
EVC2	Q86UK5	p.Glu1023Gln	rs769090909	missense variant	-	NC_000004.12:g.5576445C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu1025Gly	rs749779764	missense variant	-	NC_000004.12:g.5576438T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1028Met	rs775899047	missense variant	-	NC_000004.12:g.5576430G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Glu1029Gly	rs779632519	missense variant	-	NC_000004.12:g.5576426T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu1029Ter	rs1235373564	stop gained	-	NC_000004.12:g.5576427C>A	gnomAD
EVC2	Q86UK5	p.Gln1031Glu	RCV000338707	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5576421G>C	ClinVar
EVC2	Q86UK5	p.Gln1031Lys	rs370438593	missense variant	-	NC_000004.12:g.5576421G>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1031Glu	rs370438593	missense variant	-	NC_000004.12:g.5576421G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1031Ter	rs370438593	stop gained	-	NC_000004.12:g.5576421G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1034His	rs377393052	missense variant	-	NC_000004.12:g.5576410C>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1035Arg	rs752619592	missense variant	-	NC_000004.12:g.5576408T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Glu1036Gln	rs765141241	missense variant	-	NC_000004.12:g.5576406C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu1036Lys	rs765141241	missense variant	-	NC_000004.12:g.5576406C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ala1037Val	COSM4923595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576402G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ala1037Thr	COSM1430242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576403C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ala1038Thr	rs754772002	missense variant	-	NC_000004.12:g.5576400C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Gln1041Ter	rs376133710	stop gained	-	NC_000004.12:g.5576391G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1041Ter	RCV000516007	nonsense	Type IV short rib polydactyly syndrome (SRTD12)	NC_000004.12:g.5576391G>A	ClinVar
EVC2	Q86UK5	p.Gln1042Ter	rs1422287117	stop gained	-	NC_000004.12:g.5576388G>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1042Glu	rs1422287117	missense variant	-	NC_000004.12:g.5576388G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1043Val	rs765989585	missense variant	-	NC_000004.12:g.5576384G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1044Arg	rs933258800	missense variant	-	NC_000004.12:g.5576381A>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1045Val	rs750108569	missense variant	-	NC_000004.12:g.5576378G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ala1045Val	RCV000671919	missense variant	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5576378G>A	ClinVar
EVC2	Q86UK5	p.Ser1046Arg	rs73074138	missense variant	-	NC_000004.12:g.5576374G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1046Ile	rs1315238843	missense variant	-	NC_000004.12:g.5576375C>A	TOPMed
EVC2	Q86UK5	p.Ser1046Cys	rs1215775221	missense variant	-	NC_000004.12:g.5576376T>A	gnomAD
EVC2	Q86UK5	p.Ser1046Arg	RCV000300182	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5576374G>C	ClinVar
EVC2	Q86UK5	p.Trp1047Cys	rs886037764	missense variant	-	NC_000004.12:g.5576371C>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Trp1047Ter	rs200560762	stop gained	-	NC_000004.12:g.5576372C>T	TOPMed
EVC2	Q86UK5	p.Trp1047Ter	RCV000257943	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5576371C>T	ClinVar
EVC2	Q86UK5	p.Trp1047Ter	rs886037764	stop gained	-	NC_000004.12:g.5576371C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1049Ter	COSM4125168	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5576367G>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Trp1050Arg	rs937321683	missense variant	-	NC_000004.12:g.5576364A>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Trp1050Cys	rs1272934589	missense variant	-	NC_000004.12:g.5576362C>G	gnomAD
EVC2	Q86UK5	p.Val1051Met	rs775917298	missense variant	-	NC_000004.12:g.5576361C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ala1052Thr	COSM4125166	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576358C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Asp1053Asn	rs746187559	missense variant	-	NC_000004.12:g.5576355C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp1053Glu	rs777020546	missense variant	-	NC_000004.12:g.5576353A>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp1053Asn	RCV000393680	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5576355C>T	ClinVar
EVC2	Q86UK5	p.Gly1054Arg	rs927337135	missense variant	-	NC_000004.12:g.5576352C>T	TOPMed
EVC2	Q86UK5	p.Gly1054Val	rs771104241	missense variant	-	NC_000004.12:g.5576351C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly1056Arg	rs148241555	missense variant	-	NC_000004.12:g.5576346C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly1056Ala	rs1171278762	missense variant	-	NC_000004.12:g.5576345C>G	gnomAD
EVC2	Q86UK5	p.Asn1059Ser	COSM4861709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576336T>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Glu1060Lys	rs779884599	missense variant	-	NC_000004.12:g.5576334C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu1060Gln	rs779884599	missense variant	-	NC_000004.12:g.5576334C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro1061Leu	rs983228989	missense variant	-	NC_000004.12:g.5576330G>A	gnomAD
EVC2	Q86UK5	p.Pro1061His	rs983228989	missense variant	-	NC_000004.12:g.5576330G>T	gnomAD
EVC2	Q86UK5	p.Gly1062Trp	rs1237759012	missense variant	-	NC_000004.12:g.5576328C>A	gnomAD
EVC2	Q86UK5	p.Glu1063Asp	COSM1056122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576323C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Val1064Leu	rs913027453	missense variant	-	NC_000004.12:g.5576322C>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Asp1065His	rs371142214	missense variant	-	NC_000004.12:g.5576319C>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu1067Lys	COSM1310137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576313C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg1068Gly	rs767026508	missense variant	-	NC_000004.12:g.5576310T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Gln1069Ter	rs144167138	stop gained	-	NC_000004.12:g.5576307G>A	ESP,ExAC
EVC2	Q86UK5	p.Thr1072Ile	rs753230285	missense variant	-	NC_000004.12:g.5576297G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Thr1072Ala	rs1345687316	missense variant	-	NC_000004.12:g.5576298T>C	gnomAD
EVC2	Q86UK5	p.Val1073Leu	rs765770073	missense variant	-	NC_000004.12:g.5576295C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Val1073Ala	rs149527560	missense variant	-	NC_000004.12:g.5576294A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1074Pro	rs771263878	missense variant	-	NC_000004.12:g.5576291A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1074Val	COSM4125164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576292G>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ala1077Thr	rs182888222	missense variant	-	NC_000004.12:g.5576283C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1077Ser	rs182888222	missense variant	-	NC_000004.12:g.5576283C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1079Arg	rs748279631	missense variant	-	NC_000004.12:g.5576275G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1079Gly	rs925847131	missense variant	-	NC_000004.12:g.5576277T>C	TOPMed
EVC2	Q86UK5	p.Lys1080Asn	rs779116122	missense variant	-	NC_000004.12:g.5576272C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1081Thr	rs768774314	missense variant	-	NC_000004.12:g.5576270C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Gln1082Arg	rs754239192	missense variant	-	NC_000004.12:g.5576267T>C	gnomAD
EVC2	Q86UK5	p.Thr1083Ile	rs749243480	missense variant	-	NC_000004.12:g.5576264G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1084Ter	rs755880828	stop gained	-	NC_000004.12:g.5576261A>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1085Pro	rs1471320329	missense variant	-	NC_000004.12:g.5576258A>G	gnomAD
EVC2	Q86UK5	p.His1088Leu	rs780779477	missense variant	-	NC_000004.12:g.5576249T>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His1088Asn	COSM4858543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5576250G>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.His1088Arg	rs780779477	missense variant	-	NC_000004.12:g.5576249T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1089Ter	RCV000799858	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5576247G>A	ClinVar
EVC2	Q86UK5	p.Gln1089Ter	rs137852927	stop gained	-	NC_000004.12:g.5576247G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1089Ter	RCV000003553	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5576247G>A	ClinVar
EVC2	Q86UK5	p.Gln1090Pro	rs140506709	missense variant	-	NC_000004.12:g.5576243T>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Cys1091Tyr	rs1225107165	missense variant	-	NC_000004.12:g.5576240C>T	gnomAD
EVC2	Q86UK5	p.Cys1091Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5576240C>A	NCI-TCGA
EVC2	Q86UK5	p.Cys1091Trp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5574772A>C	NCI-TCGA
EVC2	Q86UK5	p.Leu1092Met	rs762129092	missense variant	-	NC_000004.12:g.5574771A>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1093Lys	rs1310133768	missense variant	-	NC_000004.12:g.5574767C>T	TOPMed
EVC2	Q86UK5	p.Glu1095Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5574762C>T	NCI-TCGA
EVC2	Q86UK5	p.Gln1097Glu	rs150215092	missense variant	-	NC_000004.12:g.5574756G>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1097Arg	COSM4393548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5574755T>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ser1099Arg	rs763047884	missense variant	-	NC_000004.12:g.5574748A>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val1100Ile	rs1424190634	missense variant	-	NC_000004.12:g.5574747C>T	gnomAD
EVC2	Q86UK5	p.Val1101Met	rs141058692	missense variant	-	NC_000004.12:g.5574744C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp1104Glu	COSM1056121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5574733G>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Leu1105Trp	rs745789473	missense variant	-	NC_000004.12:g.5574731A>C	ExAC,gnomAD
EVC2	Q86UK5	p.Met1109Val	rs368739188	missense variant	-	NC_000004.12:g.5574720T>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met1109Leu	rs368739188	missense variant	-	NC_000004.12:g.5574720T>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1111Gly	COSM1056120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5574713G>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ala1111Val	rs1217438048	missense variant	-	NC_000004.12:g.5574713G>A	gnomAD
EVC2	Q86UK5	p.Thr1113Asn	rs777368641	missense variant	-	NC_000004.12:g.5574707G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ala1115Glu	rs1216839016	missense variant	-	NC_000004.12:g.5574701G>T	gnomAD
EVC2	Q86UK5	p.Cys1118Gly	rs1023226557	missense variant	-	NC_000004.12:g.5574693A>C	TOPMed
EVC2	Q86UK5	p.Ser1119Asn	rs1293374224	missense variant	-	NC_000004.12:g.5574689C>T	gnomAD
EVC2	Q86UK5	p.Glu1121Ala	rs1419370853	missense variant	-	NC_000004.12:g.5568639T>G	gnomAD
EVC2	Q86UK5	p.Glu1121Val	COSM6167405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5568639T>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Leu1122Pro	rs747753303	missense variant	-	NC_000004.12:g.5568636A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1125Val	rs1280192897	missense variant	-	NC_000004.12:g.5568627G>A	gnomAD
EVC2	Q86UK5	p.Ala1125Ser	rs1482655163	missense variant	-	NC_000004.12:g.5568628C>A	gnomAD
EVC2	Q86UK5	p.Ser1126Leu	rs201735294	missense variant	-	NC_000004.12:g.5568624G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1126Ter	rs201735294	stop gained	-	NC_000004.12:g.5568624G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Tyr1127Cys	rs1432103795	missense variant	-	NC_000004.12:g.5568621T>C	TOPMed
EVC2	Q86UK5	p.Tyr1127His	rs199652320	missense variant	-	NC_000004.12:g.5568622A>G	TOPMed
EVC2	Q86UK5	p.Leu1128Met	rs200105743	missense variant	-	NC_000004.12:g.5568619G>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1129Thr	rs1336630062	missense variant	-	NC_000004.12:g.5568616C>T	gnomAD
EVC2	Q86UK5	p.Ala1129Val	rs758710828	missense variant	-	NC_000004.12:g.5568615G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ala1129Glu	rs758710828	missense variant	-	NC_000004.12:g.5568615G>T	ExAC,gnomAD
EVC2	Q86UK5	p.Met1131Val	rs765383872	missense variant	-	NC_000004.12:g.5568610T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Ala1132Val	rs199838475	missense variant	-	NC_000004.12:g.5568606G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met1133Val	rs1284197690	missense variant	-	NC_000004.12:g.5568604T>C	TOPMed
EVC2	Q86UK5	p.Met1133Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5568603A>T	NCI-TCGA
EVC2	Q86UK5	p.Val1134Met	rs1358384272	missense variant	-	NC_000004.12:g.5568601C>T	gnomAD
EVC2	Q86UK5	p.Pro1135Leu	rs1157866730	missense variant	-	NC_000004.12:g.5568597G>A	gnomAD
EVC2	Q86UK5	p.Gly1136Arg	rs567949398	missense variant	-	NC_000004.12:g.5568595C>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly1136Arg	rs567949398	missense variant	-	NC_000004.12:g.5568595C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly1136Ter	RCV000176128	frameshift	-	NC_000004.12:g.5568593_5568599del	ClinVar
EVC2	Q86UK5	p.Gly1136Ter	RCV000515904	frameshift	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.5568593_5568599del	ClinVar
EVC2	Q86UK5	p.Ala1137Val	rs771699143	missense variant	-	NC_000004.12:g.5568591G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1137Thr	rs773126892	missense variant	-	NC_000004.12:g.5568592C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1137Asp	rs771699143	missense variant	-	NC_000004.12:g.5568591G>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr1138Met	rs182298453	missense variant	-	NC_000004.12:g.5568588G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Thr1138Met	RCV000293284	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5568588G>A	ClinVar
EVC2	Q86UK5	p.Arg1140Pro	rs779684008	missense variant	-	NC_000004.12:g.5568582C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1140His	rs779684008	missense variant	-	NC_000004.12:g.5568582C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1140Cys	rs376225141	missense variant	-	NC_000004.12:g.5568583G>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1141Trp	rs568630456	missense variant	-	NC_000004.12:g.5568580G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1141Leu	rs778201846	missense variant	-	NC_000004.12:g.5568579C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1141Gln	rs778201846	missense variant	-	NC_000004.12:g.5568579C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1141Pro	rs778201846	missense variant	-	NC_000004.12:g.5568579C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1142Pro	rs977811297	missense variant	-	NC_000004.12:g.5568576A>G	TOPMed
EVC2	Q86UK5	p.Ser1144Asn	rs200609501	missense variant	-	NC_000004.12:g.5568570C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val1145Leu	rs1416506516	missense variant	-	NC_000004.12:g.5568568C>A	gnomAD
EVC2	Q86UK5	p.Val1146Ile	rs1338397099	missense variant	-	NC_000004.12:g.5568565C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Pro1148Arg	rs1444386098	missense variant	-	NC_000004.12:g.5568558G>C	gnomAD
EVC2	Q86UK5	p.Thr1149Ala	rs1382533822	missense variant	-	NC_000004.12:g.5568556T>C	gnomAD
EVC2	Q86UK5	p.Thr1149Ile	rs779047633	missense variant	-	NC_000004.12:g.5568555G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ala1150Ser	rs755174737	missense variant	-	NC_000004.12:g.5568553C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1151Leu	rs1417914050	missense variant	-	NC_000004.12:g.5568549G>A	gnomAD
EVC2	Q86UK5	p.Gln1152Ter	rs1166534919	stop gained	-	NC_000004.12:g.5568547G>A	gnomAD
EVC2	Q86UK5	p.Pro1153Ter	RCV000669730	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5568525_5568543del	ClinVar
EVC2	Q86UK5	p.Gln1154Ter	rs915006493	stop gained	-	NC_000004.12:g.5568541G>A	TOPMed
EVC2	Q86UK5	p.Ala1157Val	rs766443374	missense variant	-	NC_000004.12:g.5568531G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1159Met	rs1447886873	missense variant	-	NC_000004.12:g.5568526G>T	gnomAD
EVC2	Q86UK5	p.Asp1160Asn	rs750271891	missense variant	-	NC_000004.12:g.5568523C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Asp1160Tyr	rs750271891	missense variant	-	NC_000004.12:g.5568523C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ser1161Leu	rs145071652	missense variant	-	NC_000004.12:g.5568519G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1162Thr	rs1235159260	missense variant	-	NC_000004.12:g.5568517C>T	gnomAD
EVC2	Q86UK5	p.Thr1163Ile	rs774164481	missense variant	-	NC_000004.12:g.5568513G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu1164Lys	rs530451522	missense variant	-	NC_000004.12:g.5568511C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu1164Ter	rs530451522	stop gained	-	NC_000004.12:g.5568511C>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1165Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5568507C>A	NCI-TCGA
EVC2	Q86UK5	p.His1166Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5568504T>A	NCI-TCGA
EVC2	Q86UK5	p.Val1167Met	rs775202977	missense variant	-	NC_000004.12:g.5568502C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Val1167Ala	rs1298975983	missense variant	-	NC_000004.12:g.5568501A>G	gnomAD
EVC2	Q86UK5	p.Asp1168Gly	rs769359253	missense variant	-	NC_000004.12:g.5568498T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Asp1168Asn	rs1394706966	missense variant	-	NC_000004.12:g.5568499C>T	gnomAD
EVC2	Q86UK5	p.His1169Tyr	RCV000385270	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5568496G>A	ClinVar
EVC2	Q86UK5	p.His1169Tyr	rs747562782	missense variant	-	NC_000004.12:g.5568496G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His1169Arg	rs1398941377	missense variant	-	NC_000004.12:g.5568495T>C	gnomAD
EVC2	Q86UK5	p.His1169Gln	rs12511039	missense variant	-	NC_000004.12:g.5568494G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1170Ser	rs748514374	missense variant	-	NC_000004.12:g.5568493C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1170Val	rs1359800892	missense variant	-	NC_000004.12:g.5568492G>A	gnomAD
EVC2	Q86UK5	p.Ala1170Thr	rs748514374	missense variant	-	NC_000004.12:g.5568493C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1171Thr	rs1375104670	missense variant	-	NC_000004.12:g.5568490C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Glu1172Asp	rs755260649	missense variant	-	NC_000004.12:g.5568485C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Glu1172Lys	rs779239935	missense variant	-	NC_000004.12:g.5568487C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp1174Tyr	rs756096100	missense variant	-	NC_000004.12:g.5568481C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Asp1174Asn	rs756096100	missense variant	-	NC_000004.12:g.5568481C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Asp1174His	rs756096100	missense variant	-	NC_000004.12:g.5568481C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Asp1174Glu	rs750404150	missense variant	-	NC_000004.12:g.5568479A>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly1175Ala	rs931547972	missense variant	-	NC_000004.12:g.5568477C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly1175Val	rs931547972	missense variant	-	NC_000004.12:g.5568477C>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Gly1176Arg	rs375910289	missense variant	-	NC_000004.12:g.5568475C>T	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1177Val	rs544632500	missense variant	-	NC_000004.12:g.5568471G>A	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1179Arg	rs1371469231	missense variant	-	NC_000004.12:g.5568465T>C	gnomAD
EVC2	Q86UK5	p.Asp1181Asn	rs1336547993	missense variant	-	NC_000004.12:g.5568460C>T	TOPMed
EVC2	Q86UK5	p.Val1182Leu	rs144511301	missense variant	-	NC_000004.12:g.5568457C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val1182Ala	rs759011343	missense variant	-	NC_000004.12:g.5568456A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Val1182Met	rs144511301	missense variant	-	NC_000004.12:g.5568457C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Val1182Leu	RCV000497426	missense variant	-	NC_000004.12:g.5568457C>A	ClinVar
EVC2	Q86UK5	p.Arg1184Ser	rs1376155432	missense variant	-	NC_000004.12:g.5568449C>A	TOPMed
EVC2	Q86UK5	p.Arg1184Lys	rs1410992760	missense variant	-	NC_000004.12:g.5568450C>T	gnomAD
EVC2	Q86UK5	p.Arg1185Gln	rs772517447	missense variant	-	NC_000004.12:g.5568447C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1185Trp	rs545528367	missense variant	-	NC_000004.12:g.5568448G>A	1000Genomes,ExAC,gnomAD
EVC2	Q86UK5	p.Lys1187Asn	rs76523157	missense variant	-	NC_000004.12:g.5565356T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His1188Gln	rs1415723101	missense variant	-	NC_000004.12:g.5565353G>C	gnomAD
EVC2	Q86UK5	p.Ser1190Arg	rs763892029	missense variant	-	NC_000004.12:g.5565347G>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Trp1191Cys	rs1404524694	missense variant	-	NC_000004.12:g.5565344C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Trp1191Ter	rs1404524694	stop gained	-	NC_000004.12:g.5565344C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Gln1193His	rs1346353134	missense variant	-	NC_000004.12:g.5565338T>G	gnomAD
EVC2	Q86UK5	p.Leu1195Ser	rs746963511	missense variant	-	NC_000004.12:g.5565333A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp1196Gly	rs777899153	missense variant	-	NC_000004.12:g.5565330T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1200Ter	RCV000669199	nonsense	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5565319G>A	ClinVar
EVC2	Q86UK5	p.Arg1200Pro	COSM1310136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5565318C>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg1200Ter	rs1305301849	stop gained	-	NC_000004.12:g.5565319G>A	TOPMed
EVC2	Q86UK5	p.Arg1200Gln	rs1217493048	missense variant	-	NC_000004.12:g.5565318C>T	gnomAD
EVC2	Q86UK5	p.Gly1201Glu	rs1449555572	missense variant	-	NC_000004.12:g.5565315C>T	gnomAD
EVC2	Q86UK5	p.Asp1202His	rs752599166	missense variant	-	NC_000004.12:g.5565313C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Asp1202Gly	rs1213729710	missense variant	-	NC_000004.12:g.5565312T>C	gnomAD
EVC2	Q86UK5	p.Asp1202Asn	rs752599166	missense variant	-	NC_000004.12:g.5565313C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Ile1204Val	rs1486452636	missense variant	-	NC_000004.12:g.5565307T>C	TOPMed
EVC2	Q86UK5	p.Arg1206Lys	rs753476996	missense variant	-	NC_000004.12:g.5565300C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Gly1207Ala	rs765832490	missense variant	-	NC_000004.12:g.5565297C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Glu1209Gly	rs1380869200	missense variant	-	NC_000004.12:g.5565291T>C	gnomAD
EVC2	Q86UK5	p.Leu1212Ter	RCV000549564	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5565283delinsTC	ClinVar
EVC2	Q86UK5	p.Leu1212Val	rs1392499941	missense variant	-	NC_000004.12:g.5565283G>C	gnomAD
EVC2	Q86UK5	p.Trp1213Cys	COSM4125158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5565278C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Trp1213Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5565278C>T	NCI-TCGA
EVC2	Q86UK5	p.Arg1215His	rs139577475	missense variant	-	NC_000004.12:g.5565273C>T	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1215Gly	rs763433901	missense variant	-	NC_000004.12:g.5565274G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1215Cys	rs763433901	missense variant	-	NC_000004.12:g.5565274G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1215Cys	RCV000381754	missense variant	Ellis-van Creveld Syndrome	NC_000004.12:g.5565274G>A	ClinVar
EVC2	Q86UK5	p.Lys1216Gln	rs760612645	missense variant	-	NC_000004.12:g.5565271T>G	gnomAD
EVC2	Q86UK5	p.Lys1216Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5565271T>A	NCI-TCGA
EVC2	Q86UK5	p.Arg1217Ile	COSM1056118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5565267C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Arg1217Thr	rs1476936539	missense variant	-	NC_000004.12:g.5565267C>G	gnomAD
EVC2	Q86UK5	p.Gln1219Ter	rs369739594	stop gained	-	NC_000004.12:g.5565262G>A	ESP,ExAC,gnomAD
EVC2	Q86UK5	p.Ser1220Ter	RCV000669358	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5563115del	ClinVar
EVC2	Q86UK5	p.Ile1221Met	rs749154271	missense variant	-	NC_000004.12:g.5563112T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile1221Thr	rs768449181	missense variant	-	NC_000004.12:g.5563113A>G	ExAC
EVC2	Q86UK5	p.Thr1225Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5563102T>C	NCI-TCGA
EVC2	Q86UK5	p.Cys1226Arg	rs367680967	missense variant	-	NC_000004.12:g.5563099A>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Cys1226Trp	rs745453932	missense variant	-	NC_000004.12:g.5563097A>C	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1227Val	rs1374591195	missense variant	-	NC_000004.12:g.5563096G>C	gnomAD
EVC2	Q86UK5	p.Leu1227Arg	rs780693648	missense variant	-	NC_000004.12:g.5563095A>C	ExAC,gnomAD
EVC2	Q86UK5	p.Pro1228Arg	rs1436377016	missense variant	-	NC_000004.12:g.5563092G>C	gnomAD
EVC2	Q86UK5	p.Leu1229Phe	rs756707642	missense variant	-	NC_000004.12:g.5563090G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1229Val	rs756707642	missense variant	-	NC_000004.12:g.5563090G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1229Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5563089A>G	NCI-TCGA
EVC2	Q86UK5	p.Glu1231Asp	rs1409601310	missense variant	-	NC_000004.12:g.5563082C>G	gnomAD
EVC2	Q86UK5	p.Glu1231Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5563084C>T	NCI-TCGA
EVC2	Q86UK5	p.Arg1232Ser	rs150551872	missense variant	-	NC_000004.12:g.5563079C>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met1233Val	rs755428872	missense variant	-	NC_000004.12:g.5563078T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Ile1234Met	rs375566943	missense variant	-	NC_000004.12:g.5563073T>C	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile1234Met	RCV000507345	missense variant	-	NC_000004.12:g.5563073T>C	ClinVar
EVC2	Q86UK5	p.Phe1235Leu	RCV000176335	missense variant	-	NC_000004.12:g.5563072A>G	ClinVar
EVC2	Q86UK5	p.Phe1235Leu	rs794727367	missense variant	-	NC_000004.12:g.5563072A>G	gnomAD
EVC2	Q86UK5	p.Phe1235Ser	rs766784641	missense variant	-	NC_000004.12:g.5563071A>G	ExAC,gnomAD
EVC2	Q86UK5	p.Phe1235Val	rs794727367	missense variant	-	NC_000004.12:g.5563072A>C	gnomAD
EVC2	Q86UK5	p.Phe1235SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5563071A>-	NCI-TCGA
EVC2	Q86UK5	p.Ser1236Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5563068G>T	NCI-TCGA
EVC2	Q86UK5	p.Gly1237Arg	COSM6167407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5563066C>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Lys1238Arg	rs760992317	missense variant	-	NC_000004.12:g.5563062T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Gly1239Arg	rs1259124504	missense variant	-	NC_000004.12:g.5563060C>G	gnomAD
EVC2	Q86UK5	p.Ser1240Ile	rs773522883	missense variant	-	NC_000004.12:g.5563056C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ser1240Arg	rs1399603571	missense variant	-	NC_000004.12:g.5563057T>G	TOPMed
EVC2	Q86UK5	p.Ser1240Thr	rs773522883	missense variant	-	NC_000004.12:g.5563056C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Trp1241Cys	rs1276820671	missense variant	-	NC_000004.12:g.5563052C>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Pro1242Leu	rs1301707502	missense variant	-	NC_000004.12:g.5563050G>A	TOPMed
EVC2	Q86UK5	p.His1243Tyr	rs761996945	missense variant	-	NC_000004.12:g.5563048G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1244Val	rs1313437564	missense variant	-	NC_000004.12:g.5563045G>C	gnomAD
EVC2	Q86UK5	p.Glu1247GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5563037_5563038insG	NCI-TCGA
EVC2	Q86UK5	p.Pro1248Arg	rs1287911899	missense variant	-	NC_000004.12:g.5563032G>C	gnomAD
EVC2	Q86UK5	p.Pro1248Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5563033G>A	NCI-TCGA
EVC2	Q86UK5	p.Ile1249Leu	rs575315126	missense variant	-	NC_000004.12:g.5563030T>G	1000Genomes,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ile1249Thr	rs200968626	missense variant	-	NC_000004.12:g.5563029A>G	1000Genomes,gnomAD
EVC2	Q86UK5	p.Ile1249Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5563029A>T	NCI-TCGA
EVC2	Q86UK5	p.Glu1251Val	rs1290612286	missense variant	-	NC_000004.12:g.5563023T>A	TOPMed
EVC2	Q86UK5	p.Glu1251Asp	rs1189285249	missense variant	-	NC_000004.12:g.5563022T>G	gnomAD
EVC2	Q86UK5	p.Glu1251Lys	rs769520928	missense variant	-	NC_000004.12:g.5563024C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1252GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5563020_5563021AG>-	NCI-TCGA
EVC2	Q86UK5	p.Ala1253Thr	rs745540572	missense variant	-	NC_000004.12:g.5563018C>T	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1253Val	rs1220482473	missense variant	-	NC_000004.12:g.5563017G>A	TOPMed
EVC2	Q86UK5	p.Pro1254Leu	rs780781536	missense variant	-	NC_000004.12:g.5563014G>A	ExAC
EVC2	Q86UK5	p.Pro1254His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5563014G>T	NCI-TCGA
EVC2	Q86UK5	p.Val1255Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5563011A>T	NCI-TCGA
EVC2	Q86UK5	p.Pro1256Leu	rs746589846	missense variant	-	NC_000004.12:g.5563008G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Pro1256Ser	rs756870560	missense variant	-	NC_000004.12:g.5563009G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ile1257Val	rs1270270639	missense variant	-	NC_000004.12:g.5563006T>C	gnomAD
EVC2	Q86UK5	p.Ile1257Thr	rs1211848921	missense variant	-	NC_000004.12:g.5563005A>G	gnomAD
EVC2	Q86UK5	p.Val1258Leu	rs368359772	missense variant	-	NC_000004.12:g.5563003C>A	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Ala1260Thr	rs1011877594	missense variant	-	NC_000004.12:g.5562997C>T	TOPMed
EVC2	Q86UK5	p.Ala1260Glu	rs894829697	missense variant	-	NC_000004.12:g.5562996G>T	TOPMed
EVC2	Q86UK5	p.Glu1261Val	rs902225088	missense variant	-	NC_000004.12:g.5562993T>A	TOPMed,gnomAD
EVC2	Q86UK5	p.Glu1261Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5562994C>A	NCI-TCGA
EVC2	Q86UK5	p.Thr1262Ser	rs923736115	missense variant	-	NC_000004.12:g.5562990G>C	TOPMed
EVC2	Q86UK5	p.Thr1262Ala	rs754241937	missense variant	-	NC_000004.12:g.5562991T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1265Val	rs780591966	missense variant	-	NC_000004.12:g.5562982G>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1265Ter	RCV000003555	frameshift	Curry-Hall syndrome (WAD)	NC_000004.12:g.5562982del	ClinVar
EVC2	Q86UK5	p.Thr1268Ile	rs756510211	missense variant	-	NC_000004.12:g.5562972G>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Gly1269Ter	RCV000088669	nonsense	Curry-Hall syndrome (WAD)	NC_000004.12:g.5562970C>A	ClinVar
EVC2	Q86UK5	p.Glu1270Gly	COSM287370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562966T>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Glu1270Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5562965C>A	NCI-TCGA
EVC2	Q86UK5	p.Lys1271Asn	rs750789655	missense variant	-	NC_000004.12:g.5562962C>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Leu1272Phe	rs767904125	missense variant	-	NC_000004.12:g.5562961G>A	ExAC,gnomAD
EVC2	Q86UK5	p.Ile1274Thr	rs1459933769	missense variant	-	NC_000004.12:g.5562954A>G	gnomAD
EVC2	Q86UK5	p.Phe1275Leu	rs1371675819	missense variant	-	NC_000004.12:g.5562952A>G	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1276Ile	rs751725959	missense variant	-	NC_000004.12:g.5562948C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Pro1278Arg	rs764009438	missense variant	-	NC_000004.12:g.5562942G>C	ExAC,gnomAD
EVC2	Q86UK5	p.Lys1279Glu	rs762957778	missense variant	-	NC_000004.12:g.5562940T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Lys1279Asn	rs201651890	missense variant	-	NC_000004.12:g.5562938C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Pro1281Ala	rs765051130	missense variant	-	NC_000004.12:g.5562934G>C	TOPMed
EVC2	Q86UK5	p.Pro1281Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5562934G>A	NCI-TCGA
EVC2	Q86UK5	p.Glu1282Asp	rs759364116	missense variant	-	NC_000004.12:g.5562929C>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Glu1282Asp	COSM3917930	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562929C>G	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Ile1283Val	rs776386860	missense variant	-	NC_000004.12:g.5562928T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Ser1284Ala	COSM1430234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562925A>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Leu1285Pro	rs746578489	missense variant	-	NC_000004.12:g.5562921A>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.His1286Asn	rs1227840207	missense variant	-	NC_000004.12:g.5562919G>T	gnomAD
EVC2	Q86UK5	p.Val1287Phe	rs771435248	missense variant	-	NC_000004.12:g.5562916C>A	ExAC,gnomAD
EVC2	Q86UK5	p.Val1287Ile	rs771435248	missense variant	-	NC_000004.12:g.5562916C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Val1287Ile	RCV000658467	missense variant	-	NC_000004.12:g.5562916C>T	ClinVar
EVC2	Q86UK5	p.Pro1288Ter	RCV000672456	frameshift	Chondroectodermal dysplasia (EVC)	NC_000004.12:g.5562913del	ClinVar
EVC2	Q86UK5	p.Pro1289Ser	rs1442223856	missense variant	-	NC_000004.12:g.5562910G>A	TOPMed
EVC2	Q86UK5	p.Arg1290Thr	rs780751172	missense variant	-	NC_000004.12:g.5562906C>G	ExAC,gnomAD
EVC2	Q86UK5	p.Arg1290Gly	rs1371052060	missense variant	-	NC_000004.12:g.5562907T>C	TOPMed,gnomAD
EVC2	Q86UK5	p.Arg1290Lys	rs780751172	missense variant	-	NC_000004.12:g.5562906C>T	ExAC,gnomAD
EVC2	Q86UK5	p.Lys1292Asn	COSM3428553	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562899C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Lys1292Thr	rs1389199278	missense variant	-	NC_000004.12:g.5562900T>G	gnomAD
EVC2	Q86UK5	p.Lys1293Asn	COSM1056117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562896C>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Lys1293Glu	rs1394912275	missense variant	-	NC_000004.12:g.5562898T>C	gnomAD
EVC2	Q86UK5	p.Lys1293Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5562897T>G	NCI-TCGA
EVC2	Q86UK5	p.Phe1295Leu	rs373925106	missense variant	-	NC_000004.12:g.5562892A>G	ESP,ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asn1297Ser	rs1409934596	missense variant	-	NC_000004.12:g.5562885T>C	TOPMed
EVC2	Q86UK5	p.Ala1298Gly	COSM1251556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562882G>C	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Lys1299Arg	rs1172004567	missense variant	-	NC_000004.12:g.5562879T>C	gnomAD
EVC2	Q86UK5	p.Lys1299Ile	COSM4125157	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562879T>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Lys1300Met	rs781685362	missense variant	-	NC_000004.12:g.5562876T>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met1302Leu	COSM420570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562871T>A	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Met1302Thr	rs146269526	missense variant	-	NC_000004.12:g.5562870A>G	ESP,ExAC
EVC2	Q86UK5	p.Arg1303Lys	rs1450539362	missense variant	-	NC_000004.12:g.5562867C>T	TOPMed
EVC2	Q86UK5	p.Arg1303Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5562866C>A	NCI-TCGA
EVC2	Q86UK5	p.Ala1304Thr	COSM734161	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562865C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Leu1305Val	rs751671346	missense variant	-	NC_000004.12:g.5562862A>C	ExAC,gnomAD
EVC2	Q86UK5	p.Leu1305Ter	COSM3604525	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5562861A>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Gly1306Val	rs1201029801	missense variant	-	NC_000004.12:g.5562858C>A	gnomAD
EVC2	Q86UK5	p.Gly1306Asp	COSM1056116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5562858C>T	NCI-TCGA Cosmic
EVC2	Q86UK5	p.Met1307Val	rs200844130	missense variant	-	NC_000004.12:g.5562856T>C	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met1307Leu	rs200844130	missense variant	-	NC_000004.12:g.5562856T>G	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Met1307Lys	rs1249649159	missense variant	-	NC_000004.12:g.5562855A>T	gnomAD
EVC2	Q86UK5	p.Met1307Leu	rs200844130	missense variant	-	NC_000004.12:g.5562856T>A	ExAC,TOPMed,gnomAD
EVC2	Q86UK5	p.Asp1308Gly	rs765207079	missense variant	-	NC_000004.12:g.5562852T>C	ExAC,gnomAD
EVC2	Q86UK5	p.Asp1308Asn	rs1015050543	missense variant	-	NC_000004.12:g.5562853C>T	TOPMed,gnomAD
EVC2	Q86UK5	p.Asp1308His	rs1015050543	missense variant	-	NC_000004.12:g.5562853C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Ala2Asp	rs1268476056	missense variant	-	NC_000001.11:g.23094257G>T	TOPMed
LUZP1	Q86V48	p.Ala2Thr	rs778790707	missense variant	-	NC_000001.11:g.23094258C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu3Lys	rs749251494	missense variant	-	NC_000001.11:g.23094255C>T	NCI-TCGA
LUZP1	Q86V48	p.Glu3Lys	rs749251494	missense variant	-	NC_000001.11:g.23094255C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Phe4Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23094252A>G	NCI-TCGA
LUZP1	Q86V48	p.Thr5Pro	rs1272059669	missense variant	-	NC_000001.11:g.23094249T>G	TOPMed
LUZP1	Q86V48	p.Ser6Arg	rs777913448	missense variant	-	NC_000001.11:g.23094244G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Lys8Arg	rs755678779	missense variant	-	NC_000001.11:g.23094239T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu9Ala	rs890495596	missense variant	-	NC_000001.11:g.23094236T>G	TOPMed
LUZP1	Q86V48	p.Thr10Pro	rs1021263102	missense variant	-	NC_000001.11:g.23094234T>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr10Met	rs551821811	missense variant	-	NC_000001.11:g.23094233G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala11Val	rs368769736	missense variant	-	NC_000001.11:g.23094230G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser12Cys	rs750709588	missense variant	-	NC_000001.11:g.23094227G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg14Leu	rs762252839	missense variant	-	NC_000001.11:g.23094221C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg14Cys	rs765642302	missense variant	-	NC_000001.11:g.23094222G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg14His	COSM282587	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23094221C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.His15Pro	rs1180030283	missense variant	-	NC_000001.11:g.23094218T>G	gnomAD
LUZP1	Q86V48	p.Arg17Leu	rs775688967	missense variant	-	NC_000001.11:g.23094212C>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg17Gln	rs775688967	missense variant	-	NC_000001.11:g.23094212C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg17Gly	rs760716379	missense variant	-	NC_000001.11:g.23094213G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg17Trp	rs760716379	missense variant	-	NC_000001.11:g.23094213G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Phe18Leu	rs772136562	missense variant	-	NC_000001.11:g.23094208A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Leu20Val	rs746106246	missense variant	-	NC_000001.11:g.23094204G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg25Cys	rs370488038	missense variant	-	NC_000001.11:g.23094189G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg25His	rs376235918	missense variant	-	NC_000001.11:g.23094188C>T	NCI-TCGA,NCI-TCGA Cosmic
LUZP1	Q86V48	p.Arg25His	rs376235918	missense variant	-	NC_000001.11:g.23094188C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg25Leu	rs376235918	missense variant	-	NC_000001.11:g.23094188C>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg25Cys	rs370488038	missense variant	-	NC_000001.11:g.23094189G>A	NCI-TCGA,NCI-TCGA Cosmic
LUZP1	Q86V48	p.Arg26Cys	rs1235056800	missense variant	-	NC_000001.11:g.23094186G>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Arg26His	rs756166621	missense variant	-	NC_000001.11:g.23094185C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg26Cys	rs1235056800	missense variant	-	NC_000001.11:g.23094186G>A	gnomAD
LUZP1	Q86V48	p.Arg26His	rs756166621	missense variant	-	NC_000001.11:g.23094185C>T	NCI-TCGA
LUZP1	Q86V48	p.Asp28Gly	rs747559732	missense variant	-	NC_000001.11:g.23094179T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp28Tyr	COSM905748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23094180C>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Leu30Trp	rs751241222	missense variant	-	NC_000001.11:g.23094173A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu32Lys	rs78627529	missense variant	-	NC_000001.11:g.23094168C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ala33Thr	rs901330271	missense variant	-	NC_000001.11:g.23094165C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Lys35Glu	rs533244242	missense variant	-	NC_000001.11:g.23094159T>C	NCI-TCGA
LUZP1	Q86V48	p.Lys35Glu	rs533244242	missense variant	-	NC_000001.11:g.23094159T>C	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Lys35Asn	rs139445275	missense variant	-	NC_000001.11:g.23094157T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn36ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23094155T>-	NCI-TCGA
LUZP1	Q86V48	p.Asn36Thr	rs1173453944	missense variant	-	NC_000001.11:g.23094155T>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Asn36Ile	rs1173453944	missense variant	-	NC_000001.11:g.23094155T>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Gln38Arg	rs1377398806	missense variant	-	NC_000001.11:g.23094149T>C	gnomAD
LUZP1	Q86V48	p.Gln38Glu	rs1216975470	missense variant	-	NC_000001.11:g.23094150G>C	TOPMed
LUZP1	Q86V48	p.Glu43Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23094134T>C	NCI-TCGA
LUZP1	Q86V48	p.Gln48Arg	rs1259126305	missense variant	-	NC_000001.11:g.23094119T>C	gnomAD
LUZP1	Q86V48	p.Asp49Asn	rs373256685	missense variant	-	NC_000001.11:g.23094117C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys50Glu	rs1255153975	missense variant	-	NC_000001.11:g.23094114T>C	gnomAD
LUZP1	Q86V48	p.Gln53Pro	rs1348361752	missense variant	-	NC_000001.11:g.23094104T>G	TOPMed
LUZP1	Q86V48	p.Glu55Lys	COSM3485471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23094099C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Ser60Gly	rs1345919591	missense variant	-	NC_000001.11:g.23094084T>C	gnomAD
LUZP1	Q86V48	p.Met61Thr	rs771317525	missense variant	-	NC_000001.11:g.23094080A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ala63Val	rs762816399	missense variant	-	NC_000001.11:g.23094074G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ile65Thr	rs769810420	missense variant	-	NC_000001.11:g.23094068A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Val67Met	rs1312603022	missense variant	-	NC_000001.11:g.23094063C>T	gnomAD
LUZP1	Q86V48	p.Leu68Gln	rs748116830	missense variant	-	NC_000001.11:g.23094059A>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg69Cys	rs889846355	missense variant	-	NC_000001.11:g.23094057G>A	gnomAD
LUZP1	Q86V48	p.Arg69His	rs1168834878	missense variant	-	NC_000001.11:g.23094056C>T	gnomAD
LUZP1	Q86V48	p.Arg71Gln	rs377259906	missense variant	-	NC_000001.11:g.23094050C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg71Trp	rs536365038	missense variant	-	NC_000001.11:g.23094051G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Val72Leu	rs1332199507	missense variant	-	NC_000001.11:g.23094048C>A	TOPMed
LUZP1	Q86V48	p.Ile75Thr	rs746570470	missense variant	-	NC_000001.11:g.23094038A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Glu76Asp	rs1424273518	missense variant	-	NC_000001.11:g.23094034T>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly77Ala	rs779652593	missense variant	-	NC_000001.11:g.23094032C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Lys78Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23094030T>C	NCI-TCGA
LUZP1	Q86V48	p.Lys78Asn	rs758097272	missense variant	-	NC_000001.11:g.23094028T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu81Ala	rs1206115555	missense variant	-	NC_000001.11:g.23094020T>G	gnomAD
LUZP1	Q86V48	p.Lys83Met	COSM4029686	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23094014T>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Arg90His	rs560811130	missense variant	-	NC_000001.11:g.23093993C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg90Cys	rs267598422	missense variant	-	NC_000001.11:g.23093994G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu91Val	rs753233913	missense variant	-	NC_000001.11:g.23093991G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Met92Leu	rs192209530	missense variant	-	NC_000001.11:g.23093988T>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys95Arg	rs1413547291	missense variant	-	NC_000001.11:g.23093978T>C	gnomAD
LUZP1	Q86V48	p.Glu98Asp	rs751735304	missense variant	-	NC_000001.11:g.23093968C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Asn101Ser	rs763296438	missense variant	-	NC_000001.11:g.23093960T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asn101Lys	rs1183423675	missense variant	-	NC_000001.11:g.23093959G>C	TOPMed
LUZP1	Q86V48	p.Leu102Val	rs1164426264	missense variant	-	NC_000001.11:g.23093958G>C	gnomAD
LUZP1	Q86V48	p.Arg104Gln	rs761574523	missense variant	-	NC_000001.11:g.23093951C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg104Trp	rs769728664	missense variant	-	NC_000001.11:g.23093952G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg104Gly	rs769728664	missense variant	-	NC_000001.11:g.23093952G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys107Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093943T>C	NCI-TCGA
LUZP1	Q86V48	p.Glu109Gly	rs768518468	missense variant	-	NC_000001.11:g.23093936T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ile110Val	rs1180865136	missense variant	-	NC_000001.11:g.23093934T>C	gnomAD
LUZP1	Q86V48	p.Ile110Thr	rs1437416104	missense variant	-	NC_000001.11:g.23093933A>G	gnomAD
LUZP1	Q86V48	p.Glu111Gln	rs746508122	missense variant	-	NC_000001.11:g.23093931C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Glu111Val	rs1211647543	missense variant	-	NC_000001.11:g.23093930T>A	gnomAD
LUZP1	Q86V48	p.Arg112Trp	rs771673829	missense variant	-	NC_000001.11:g.23093928G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg112Gln	rs745524128	missense variant	-	NC_000001.11:g.23093927C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln114His	rs756496173	missense variant	-	NC_000001.11:g.23093920C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gln114Ter	rs778593622	stop gained	-	NC_000001.11:g.23093922G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg116Leu	rs149397570	missense variant	-	NC_000001.11:g.23093915C>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg116Gln	rs149397570	missense variant	-	NC_000001.11:g.23093915C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg116Ter	rs748500182	stop gained	-	NC_000001.11:g.23093916G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Glu121Gln	rs766568101	missense variant	-	NC_000001.11:g.23093901C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu121Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.23093901C>A	NCI-TCGA
LUZP1	Q86V48	p.Glu124Ala	rs1393063982	missense variant	-	NC_000001.11:g.23093891T>G	gnomAD
LUZP1	Q86V48	p.Ala126Asp	rs1458716616	missense variant	-	NC_000001.11:g.23093885G>T	gnomAD
LUZP1	Q86V48	p.Phe127Leu	rs1412652796	missense variant	-	NC_000001.11:g.23093881G>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Lys131Arg	rs750665246	missense variant	-	NC_000001.11:g.23093870T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn132Ser	rs1468414898	missense variant	-	NC_000001.11:g.23093867T>C	gnomAD
LUZP1	Q86V48	p.Cys134Ser	rs765448028	missense variant	-	NC_000001.11:g.23093861C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr135Ile	rs1201266078	missense variant	-	NC_000001.11:g.23093858G>A	gnomAD
LUZP1	Q86V48	p.Cys138Tyr	rs776342041	missense variant	-	NC_000001.11:g.23093849C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Cys138Ser	rs1211924449	missense variant	-	NC_000001.11:g.23093850A>T	gnomAD
LUZP1	Q86V48	p.Leu141Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093840A>C	NCI-TCGA
LUZP1	Q86V48	p.Asn146Tyr	rs1160293624	missense variant	-	NC_000001.11:g.23093826T>A	TOPMed
LUZP1	Q86V48	p.Thr148Ser	rs968797680	missense variant	-	NC_000001.11:g.23093819G>C	TOPMed
LUZP1	Q86V48	p.Ile151Met	rs988934298	missense variant	-	NC_000001.11:g.23093809G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser152Ala	rs374674969	missense variant	-	NC_000001.11:g.23093808A>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met157Val	rs1463436244	missense variant	-	NC_000001.11:g.23093793T>C	TOPMed
LUZP1	Q86V48	p.Arg159Gly	rs1436716822	missense variant	-	NC_000001.11:g.23093787T>C	gnomAD
LUZP1	Q86V48	p.Lys163Arg	rs1320924945	missense variant	-	NC_000001.11:g.23093774T>C	TOPMed
LUZP1	Q86V48	p.Glu164Ter	COSM1340260	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23093772C>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Arg171Cys	rs748493107	missense variant	-	NC_000001.11:g.23093751G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg171His	rs781437738	missense variant	-	NC_000001.11:g.23093750C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Asp173Tyr	rs755442177	missense variant	-	NC_000001.11:g.23093745C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser178Asn	rs1426982542	missense variant	-	NC_000001.11:g.23093729C>T	gnomAD
LUZP1	Q86V48	p.Leu179Ser	rs184936612	missense variant	-	NC_000001.11:g.23093726A>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ala180Val	rs1454835098	missense variant	-	NC_000001.11:g.23093723G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Glu182Lys	rs758551781	missense variant	-	NC_000001.11:g.23093718C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Lys185Gln	rs1242831261	missense variant	-	NC_000001.11:g.23093709T>G	gnomAD
LUZP1	Q86V48	p.Leu186Val	rs1445812651	missense variant	-	NC_000001.11:g.23093706G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser188Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.23093699G>T	NCI-TCGA
LUZP1	Q86V48	p.Val194Ile	rs765477979	missense variant	-	NC_000001.11:g.23093682C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ser195ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23093677_23093680ACTT>-	NCI-TCGA
LUZP1	Q86V48	p.Lys198Arg	rs1230248794	missense variant	-	NC_000001.11:g.23093669T>C	gnomAD
LUZP1	Q86V48	p.Tyr199Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23093659_23093666ATTCAAGT>-	NCI-TCGA
LUZP1	Q86V48	p.Leu200Phe	rs1018070257	missense variant	-	NC_000001.11:g.23093662C>G	TOPMed
LUZP1	Q86V48	p.Asn201Ile	rs763802404	missense variant	-	NC_000001.11:g.23093660T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn201Thr	rs763802404	missense variant	-	NC_000001.11:g.23093660T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu202Ter	rs760549220	stop gained	-	NC_000001.11:g.23093658C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Glu204Gln	rs1447152644	missense variant	-	NC_000001.11:g.23093652C>G	TOPMed
LUZP1	Q86V48	p.Lys205Arg	rs1334498312	missense variant	-	NC_000001.11:g.23093648T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Glu206Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.23093646C>A	NCI-TCGA
LUZP1	Q86V48	p.Glu206Gln	COSM4390271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093646C>G	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Asn207Ser	rs767482269	missense variant	-	NC_000001.11:g.23093642T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu208Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093638C>A	NCI-TCGA
LUZP1	Q86V48	p.Glu208Lys	rs773754332	missense variant	-	NC_000001.11:g.23093640C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile211Leu	rs1451611394	missense variant	-	NC_000001.11:g.23093631T>G	gnomAD
LUZP1	Q86V48	p.Ile211Thr	rs770575047	missense variant	-	NC_000001.11:g.23093630A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Glu213Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.23093625C>A	NCI-TCGA
LUZP1	Q86V48	p.Glu213Ala	rs1474686852	missense variant	-	NC_000001.11:g.23093624T>G	gnomAD
LUZP1	Q86V48	p.Leu214Val	rs138186722	missense variant	-	NC_000001.11:g.23093622G>C	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Leu218Arg	rs1211966720	missense variant	-	NC_000001.11:g.23093609A>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Asn221Lys	rs768886211	missense variant	-	NC_000001.11:g.23093599G>T	ExAC
LUZP1	Q86V48	p.Lys222Glu	rs1485547474	missense variant	-	NC_000001.11:g.23093598T>C	gnomAD
LUZP1	Q86V48	p.Lys223Glu	rs535181312	missense variant	-	NC_000001.11:g.23093595T>C	1000Genomes
LUZP1	Q86V48	p.Met224Ter	COSM1639752	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23093592T>-	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Asn225His	rs1223578015	missense variant	-	NC_000001.11:g.23093589T>G	TOPMed
LUZP1	Q86V48	p.Arg226Gln	rs954113638	missense variant	-	NC_000001.11:g.23093585C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Arg226Ter	rs747448041	stop gained	-	NC_000001.11:g.23093586G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg226Gly	rs747448041	missense variant	-	NC_000001.11:g.23093586G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp227Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093581A>C	NCI-TCGA
LUZP1	Q86V48	p.Thr229Ala	rs1294172425	missense variant	-	NC_000001.11:g.23093577T>C	gnomAD
LUZP1	Q86V48	p.Thr229Ile	rs780679864	missense variant	-	NC_000001.11:g.23093576G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Asn231Ile	rs772757233	missense variant	-	NC_000001.11:g.23093570T>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser233Phe	rs1226225628	missense variant	-	NC_000001.11:g.23093564G>A	TOPMed
LUZP1	Q86V48	p.Leu235Met	rs1414150075	missense variant	-	NC_000001.11:g.23093559G>T	gnomAD
LUZP1	Q86V48	p.Arg241Trp	rs567867516	missense variant	-	NC_000001.11:g.23093541G>A	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ile242Met	rs1309663192	missense variant	-	NC_000001.11:g.23093536A>C	gnomAD
LUZP1	Q86V48	p.Glu243Lys	rs778892208	missense variant	-	NC_000001.11:g.23093535C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly245Ser	rs757435824	missense variant	-	NC_000001.11:g.23093529C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly245Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093529C>G	NCI-TCGA
LUZP1	Q86V48	p.Ser247Phe	rs754019634	missense variant	-	NC_000001.11:g.23093522G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser248Phe	rs907098324	missense variant	-	NC_000001.11:g.23093519G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr249Ile	rs755871670	missense variant	-	NC_000001.11:g.23093516G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro251Gln	rs751013038	missense variant	-	NC_000001.11:g.23093510G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro251Leu	rs751013038	missense variant	-	NC_000001.11:g.23093510G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser252Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093508A>G	NCI-TCGA
LUZP1	Q86V48	p.Glu254Asp	rs1480720555	missense variant	-	NC_000001.11:g.23093500T>A	gnomAD
LUZP1	Q86V48	p.Ser255Ter	rs895456683	stop gained	-	NC_000001.11:g.23093498G>C	TOPMed
LUZP1	Q86V48	p.Arg256Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093495C>A	NCI-TCGA
LUZP1	Q86V48	p.Arg257Lys	rs148874653	missense variant	-	NC_000001.11:g.23093492C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys258Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093488C>A	NCI-TCGA
LUZP1	Q86V48	p.Lys258Asn	rs1322981005	missense variant	-	NC_000001.11:g.23093488C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly259Ala	rs769615018	missense variant	-	NC_000001.11:g.23093486C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gly259Asp	rs769615018	missense variant	-	NC_000001.11:g.23093486C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly260Ala	rs1232568675	missense variant	-	NC_000001.11:g.23093483C>G	gnomAD
LUZP1	Q86V48	p.Leu261Met	COSM4393149	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093481G>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Asp262Val	rs1332622135	missense variant	-	NC_000001.11:g.23093477T>A	gnomAD
LUZP1	Q86V48	p.Tyr263Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.23093473G>C	NCI-TCGA
LUZP1	Q86V48	p.Lys265Asn	rs761100989	missense variant	-	NC_000001.11:g.23093467C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Val267Glu	rs1391775738	missense variant	-	NC_000001.11:g.23093462A>T	gnomAD
LUZP1	Q86V48	p.Glu268Lys	COSM4390299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093460C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Asn269Asp	rs140949865	missense variant	-	NC_000001.11:g.23093457T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu270Lys	rs1396762906	missense variant	-	NC_000001.11:g.23093454C>T	gnomAD
LUZP1	Q86V48	p.Thr271Ile	rs772669241	missense variant	-	NC_000001.11:g.23093450G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Asn273Lys	rs746368166	missense variant	-	NC_000001.11:g.23093443G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser275Pro	rs139773081	missense variant	-	NC_000001.11:g.23093439A>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser275Leu	COSM3485470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093438G>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Glu278Lys	rs1455691548	missense variant	-	NC_000001.11:g.23093430C>T	gnomAD
LUZP1	Q86V48	p.Asn280Lys	COSM425618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093422G>C	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Arg281His	rs749424632	missense variant	-	NC_000001.11:g.23093420C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg281Cys	rs142425004	missense variant	-	NC_000001.11:g.23093421G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn282Thr	rs202165883	missense variant	-	NC_000001.11:g.23093417T>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn282Ser	rs202165883	missense variant	-	NC_000001.11:g.23093417T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln283Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.23093415G>A	NCI-TCGA
LUZP1	Q86V48	p.Glu284Lys	rs1209251376	missense variant	-	NC_000001.11:g.23093412C>T	gnomAD
LUZP1	Q86V48	p.Lys287Arg	rs1203257385	missense variant	-	NC_000001.11:g.23093402T>C	TOPMed
LUZP1	Q86V48	p.Val288Ala	rs368562864	missense variant	-	NC_000001.11:g.23093399A>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val288Asp	rs368562864	missense variant	-	NC_000001.11:g.23093399A>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu291Arg	rs1253035115	missense variant	-	NC_000001.11:g.23093390A>C	gnomAD
LUZP1	Q86V48	p.Gln293Pro	rs780967298	missense variant	-	NC_000001.11:g.23093384T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ile295Thr	rs754848885	missense variant	-	NC_000001.11:g.23093378A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Lys297Asn	rs1239770340	missense variant	-	NC_000001.11:g.23093371T>A	gnomAD
LUZP1	Q86V48	p.Lys297Thr	rs1269949537	missense variant	-	NC_000001.11:g.23093372T>G	gnomAD
LUZP1	Q86V48	p.Leu298Phe	rs1304077594	missense variant	-	NC_000001.11:g.23093370G>A	TOPMed
LUZP1	Q86V48	p.Thr300Ala	rs1220134504	missense variant	-	NC_000001.11:g.23093364T>C	TOPMed
LUZP1	Q86V48	p.Thr300Ile	rs751433880	missense variant	-	NC_000001.11:g.23093363G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile302Val	rs1373509100	missense variant	-	NC_000001.11:g.23093358T>C	gnomAD
LUZP1	Q86V48	p.Lys303Arg	rs1216981195	missense variant	-	NC_000001.11:g.23093354T>C	gnomAD
LUZP1	Q86V48	p.His304Arg	rs770246778	missense variant	-	NC_000001.11:g.23093351T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser307Leu	rs764936814	missense variant	-	NC_000001.11:g.23093342G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Glu310Lys	rs775931189	missense variant	-	NC_000001.11:g.23093334C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Glu310Ala	rs1454804424	missense variant	-	NC_000001.11:g.23093333T>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Glu311Lys	rs1357320634	missense variant	-	NC_000001.11:g.23093331C>T	TOPMed
LUZP1	Q86V48	p.Lys314Glu	rs533401752	missense variant	-	NC_000001.11:g.23093322T>C	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Met315Thr	rs1178106649	missense variant	-	NC_000001.11:g.23093318A>G	TOPMed
LUZP1	Q86V48	p.Met315Ile	rs559544381	missense variant	-	NC_000001.11:g.23093317C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ser317Ala	rs12091554	missense variant	-	NC_000001.11:g.23093313A>C	UniProt,dbSNP
LUZP1	Q86V48	p.Ser317Ala	VAR_056932	missense variant	-	NC_000001.11:g.23093313A>C	UniProt
LUZP1	Q86V48	p.Ser317Ala	rs12091554	missense variant	-	NC_000001.11:g.23093313A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys318Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093309T>G	NCI-TCGA
LUZP1	Q86V48	p.Asp321Gly	rs773309233	missense variant	-	NC_000001.11:g.23093300T>C	ExAC
LUZP1	Q86V48	p.Asp321Asn	rs148009756	missense variant	-	NC_000001.11:g.23093301C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln323Arg	rs1473659016	missense variant	-	NC_000001.11:g.23093294T>C	TOPMed
LUZP1	Q86V48	p.Asp324Tyr	rs769933890	missense variant	-	NC_000001.11:g.23093292C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Tyr326Cys	rs1251535609	missense variant	-	NC_000001.11:g.23093285T>C	TOPMed
LUZP1	Q86V48	p.Leu327Ile	rs974746669	missense variant	-	NC_000001.11:g.23093283G>T	TOPMed
LUZP1	Q86V48	p.Ser328Gly	rs374473556	missense variant	-	NC_000001.11:g.23093280T>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser328Arg	rs374473556	missense variant	-	NC_000001.11:g.23093280T>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln330Arg	rs1018603810	missense variant	-	NC_000001.11:g.23093273T>C	TOPMed
LUZP1	Q86V48	p.Asn331His	COSM679019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23093271T>G	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Asn333Ser	rs961734965	missense variant	-	NC_000001.11:g.23093264T>C	gnomAD
LUZP1	Q86V48	p.Ala337Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093253C>A	NCI-TCGA
LUZP1	Q86V48	p.Ala337Thr	rs1212004381	missense variant	-	NC_000001.11:g.23093253C>T	gnomAD
LUZP1	Q86V48	p.Leu340Val	rs140301548	missense variant	-	NC_000001.11:g.23093244G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile343Leu	rs1266620372	missense variant	-	NC_000001.11:g.23093235T>G	TOPMed
LUZP1	Q86V48	p.Ile343LysPheSerTerUnkUnk	COSM5228098	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23093233_23093234TA>-	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Leu345Pro	rs746864098	missense variant	-	NC_000001.11:g.23093228A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gln346Arg	rs1230624769	missense variant	-	NC_000001.11:g.23093225T>C	TOPMed
LUZP1	Q86V48	p.Gln346His	rs779838081	missense variant	-	NC_000001.11:g.23093224T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gln350His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093212C>A	NCI-TCGA
LUZP1	Q86V48	p.Leu353Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.23093204A>C	NCI-TCGA
LUZP1	Q86V48	p.Leu353GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23093206_23093207insCT	NCI-TCGA
LUZP1	Q86V48	p.Glu357Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093193C>T	NCI-TCGA
LUZP1	Q86V48	p.Val358Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093190C>T	NCI-TCGA
LUZP1	Q86V48	p.Gly360Glu	rs758385409	missense variant	-	NC_000001.11:g.23093183C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly360Arg	rs1307303812	missense variant	-	NC_000001.11:g.23093184C>G	TOPMed
LUZP1	Q86V48	p.Glu361Gly	rs200491542	missense variant	-	NC_000001.11:g.23093180T>C	1000Genomes
LUZP1	Q86V48	p.Ala363Asp	rs749863459	missense variant	-	NC_000001.11:g.23093174G>T	ExAC,gnomAD
LUZP1	Q86V48	p.Leu365Pro	rs1395134228	missense variant	-	NC_000001.11:g.23093168A>G	TOPMed
LUZP1	Q86V48	p.Gly369Asp	rs1287423296	missense variant	-	NC_000001.11:g.23093156C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly369Ser	rs1384896402	missense variant	-	NC_000001.11:g.23093157C>T	gnomAD
LUZP1	Q86V48	p.Arg370Gly	rs756914509	missense variant	-	NC_000001.11:g.23093154T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg373Ser	rs1452244292	missense variant	-	NC_000001.11:g.23093143C>G	gnomAD
LUZP1	Q86V48	p.Arg373Gly	rs367566694	missense variant	-	NC_000001.11:g.23093145T>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.His379Tyr	rs759796311	missense variant	-	NC_000001.11:g.23093127G>A	ExAC,gnomAD
LUZP1	Q86V48	p.His379Gln	rs766753223	missense variant	-	NC_000001.11:g.23093125G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly380Arg	rs763518944	missense variant	-	NC_000001.11:g.23093124C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly380Glu	rs1202173142	missense variant	-	NC_000001.11:g.23093123C>T	gnomAD
LUZP1	Q86V48	p.Glu382Ala	rs1485868260	missense variant	-	NC_000001.11:g.23093117T>G	gnomAD
LUZP1	Q86V48	p.Ala383Pro	rs1279402081	missense variant	-	NC_000001.11:g.23093115C>G	gnomAD
LUZP1	Q86V48	p.Ser384Phe	rs769848698	missense variant	-	NC_000001.11:g.23093111G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Val385Met	rs748289274	missense variant	-	NC_000001.11:g.23093109C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val385Ala	rs563641084	missense variant	-	NC_000001.11:g.23093108A>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ser386Phe	rs148239864	missense variant	-	NC_000001.11:g.23093105G>A	ESP,TOPMed
LUZP1	Q86V48	p.Lys387Arg	rs747472636	missense variant	-	NC_000001.11:g.23093102T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.His388Arg	rs768975742	missense variant	-	NC_000001.11:g.23093099T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ala390Val	rs544676272	missense variant	-	NC_000001.11:g.23093093G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg391Trp	rs745815650	missense variant	-	NC_000001.11:g.23093091G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg391Gln	rs779054615	missense variant	-	NC_000001.11:g.23093090C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Glu392Lys	rs1461039250	missense variant	-	NC_000001.11:g.23093088C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Leu393Met	rs1370898687	missense variant	-	NC_000001.11:g.23093085G>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Leu393Val	rs1370898687	missense variant	-	NC_000001.11:g.23093085G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser394Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23093082A>G	NCI-TCGA
LUZP1	Q86V48	p.Gln396His	rs753440754	missense variant	-	NC_000001.11:g.23093074C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Gln396Arg	rs756822982	missense variant	-	NC_000001.11:g.23093075T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Gln396Pro	rs756822982	missense variant	-	NC_000001.11:g.23093075T>G	ExAC,gnomAD
LUZP1	Q86V48	p.His397Arg	rs140498746	missense variant	-	NC_000001.11:g.23093072T>C	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.His397Leu	rs140498746	missense variant	-	NC_000001.11:g.23093072T>A	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Arg399Gln	rs376982587	missense variant	-	NC_000001.11:g.23093066C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg399Trp	rs755822569	missense variant	-	NC_000001.11:g.23093067G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu400Val	rs1243597738	missense variant	-	NC_000001.11:g.23093063T>A	TOPMed
LUZP1	Q86V48	p.Arg401Gln	rs369398324	missense variant	-	NC_000001.11:g.23093060C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg401Ter	rs1454162875	stop gained	-	NC_000001.11:g.23093061G>A	-
LUZP1	Q86V48	p.Arg403Trp	rs371689592	missense variant	-	NC_000001.11:g.23093055G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg403Gln	rs765769791	missense variant	-	NC_000001.11:g.23093054C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Glu406Lys	rs1413338421	missense variant	-	NC_000001.11:g.23093046C>T	gnomAD
LUZP1	Q86V48	p.Phe407Cys	rs1337970417	missense variant	-	NC_000001.11:g.23093042A>C	gnomAD
LUZP1	Q86V48	p.Asn410Ser	rs760959640	missense variant	-	NC_000001.11:g.23093033T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asn411Ser	rs775091805	missense variant	-	NC_000001.11:g.23093030T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser415Tyr	rs553062780	missense variant	-	NC_000001.11:g.23093018G>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Leu416Val	rs139904386	missense variant	-	NC_000001.11:g.23093016G>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser417Asn	rs1471038585	missense variant	-	NC_000001.11:g.23093012C>T	gnomAD
LUZP1	Q86V48	p.Gln420His	rs1162489094	missense variant	-	NC_000001.11:g.23093002C>G	TOPMed
LUZP1	Q86V48	p.Asn428Ser	rs1182777789	missense variant	-	NC_000001.11:g.23092979T>C	gnomAD
LUZP1	Q86V48	p.Ala431Gly	rs140449750	missense variant	-	NC_000001.11:g.23092970G>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala431Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092971C>T	NCI-TCGA
LUZP1	Q86V48	p.Ala432Val	COSM3689442	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092967G>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Lys433Thr	rs1370421087	missense variant	-	NC_000001.11:g.23092964T>G	TOPMed
LUZP1	Q86V48	p.Ala434Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092962C>T	NCI-TCGA
LUZP1	Q86V48	p.Ala434SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23092962_23092963insT	NCI-TCGA
LUZP1	Q86V48	p.Ser435Ala	rs1164229305	missense variant	-	NC_000001.11:g.23092959A>C	TOPMed
LUZP1	Q86V48	p.Met437Val	rs780770294	missense variant	-	NC_000001.11:g.23092953T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met437Leu	rs780770294	missense variant	-	NC_000001.11:g.23092953T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met437Thr	rs758755928	missense variant	-	NC_000001.11:g.23092952A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Met437Leu	rs780770294	missense variant	-	NC_000001.11:g.23092953T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly438Arg	rs750833135	missense variant	-	NC_000001.11:g.23092950C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly438Ala	rs765687825	missense variant	-	NC_000001.11:g.23092949C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Val439Met	rs762340692	missense variant	-	NC_000001.11:g.23092947C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ser440Asn	rs145388641	missense variant	-	NC_000001.11:g.23092943C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser440Gly	rs753851989	missense variant	-	NC_000001.11:g.23092944T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr441Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092941T>C	NCI-TCGA
LUZP1	Q86V48	p.Ser443Arg	rs760725608	missense variant	-	NC_000001.11:g.23092933A>C	ExAC
LUZP1	Q86V48	p.Gly444Arg	rs1393179477	missense variant	-	NC_000001.11:g.23092932C>T	gnomAD
LUZP1	Q86V48	p.Thr445Ile	rs375185428	missense variant	-	NC_000001.11:g.23092928G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln446His	rs555973566	missense variant	-	NC_000001.11:g.23092924C>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Glu447Asp	rs759384704	missense variant	-	NC_000001.11:g.23092921C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Lys449Asn	rs774317729	missense variant	-	NC_000001.11:g.23092915C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Glu452Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092908C>T	NCI-TCGA
LUZP1	Q86V48	p.Asp453Glu	rs200763245	missense variant	-	NC_000001.11:g.23092903G>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg454Trp	rs372619729	missense variant	-	NC_000001.11:g.23092902G>A	ESP,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg454Gln	rs749251122	missense variant	-	NC_000001.11:g.23092901C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val456Leu	rs1454762367	missense variant	-	NC_000001.11:g.23092896C>A	gnomAD
LUZP1	Q86V48	p.Pro457Ser	rs564237938	missense variant	-	NC_000001.11:g.23092893G>A	ExAC
LUZP1	Q86V48	p.Gly458Ser	rs477830	missense variant	-	NC_000001.11:g.23092890C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly458Ser	rs477830	missense variant	-	NC_000001.11:g.23092890C>T	UniProt,dbSNP
LUZP1	Q86V48	p.Gly458Ser	VAR_026283	missense variant	-	NC_000001.11:g.23092890C>T	UniProt
LUZP1	Q86V48	p.Ser459Phe	rs1340801758	missense variant	-	NC_000001.11:g.23092886G>A	TOPMed
LUZP1	Q86V48	p.Ser460Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092884A>G	NCI-TCGA
LUZP1	Q86V48	p.Gln461Arg	rs1349275576	missense variant	-	NC_000001.11:g.23092880T>C	gnomAD
LUZP1	Q86V48	p.Gln461His	rs1204926584	missense variant	-	NC_000001.11:g.23092879C>G	gnomAD
LUZP1	Q86V48	p.Gln461Lys	rs3765407	missense variant	-	NC_000001.11:g.23092881G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser462Asn	rs750749396	missense variant	-	NC_000001.11:g.23092877C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Glu463Lys	rs200208053	missense variant	-	NC_000001.11:g.23092875C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly464Arg	rs201798117	missense variant	-	NC_000001.11:g.23092872C>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg468Gly	rs547460294	missense variant	-	NC_000001.11:g.23092860T>C	1000Genomes
LUZP1	Q86V48	p.Gln470Arg	rs1300682135	missense variant	-	NC_000001.11:g.23092853T>C	gnomAD
LUZP1	Q86V48	p.Ser472Ala	rs1432760945	missense variant	-	NC_000001.11:g.23092848A>C	gnomAD
LUZP1	Q86V48	p.Val473Met	rs145669088	missense variant	-	NC_000001.11:g.23092845C>T	ESP,gnomAD
LUZP1	Q86V48	p.Val473Leu	rs145669088	missense variant	-	NC_000001.11:g.23092845C>A	ESP,gnomAD
LUZP1	Q86V48	p.Ser475Thr	rs1367627820	missense variant	-	NC_000001.11:g.23092838C>G	TOPMed
LUZP1	Q86V48	p.Arg476His	rs752769715	missense variant	-	NC_000001.11:g.23092835C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg476Cys	rs760779821	missense variant	-	NC_000001.11:g.23092836G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro479Arg	rs766262615	missense variant	-	NC_000001.11:g.23092826G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro479Leu	rs766262615	missense variant	-	NC_000001.11:g.23092826G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro479ArgPheSerTerUnkUnk	COSM1340257	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23092826G>-	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Ala480Gly	rs568251684	missense variant	-	NC_000001.11:g.23092823G>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala481Thr	COSM4029684	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092821C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Gln482Ter	rs1193177035	stop gained	-	NC_000001.11:g.23092818G>A	gnomAD
LUZP1	Q86V48	p.Glu483Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23092808_23092815CTGTGCTC>-	NCI-TCGA
LUZP1	Q86V48	p.Ala487Val	rs769665786	missense variant	-	NC_000001.11:g.23092802G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Trp488Gly	rs1197040273	missense variant	-	NC_000001.11:g.23092800A>C	TOPMed
LUZP1	Q86V48	p.Lys489Thr	rs776038918	missense variant	-	NC_000001.11:g.23092796T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr491Ile	rs35917050	missense variant	-	NC_000001.11:g.23092790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr491Ser	rs35917050	missense variant	-	NC_000001.11:g.23092790G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro494Arg	rs1347138763	missense variant	-	NC_000001.11:g.23092781G>C	TOPMed
LUZP1	Q86V48	p.Gly495Asp	rs1409434891	missense variant	-	NC_000001.11:g.23092778C>T	TOPMed
LUZP1	Q86V48	p.Gly495Val	COSM679021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092778C>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Glu497Lys	rs563389221	missense variant	-	NC_000001.11:g.23092773C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser498Arg	rs477717	missense variant	-	NC_000001.11:g.23092768G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser498Arg	rs477717	missense variant	-	NC_000001.11:g.23092768G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser498Asn	rs749655719	missense variant	-	NC_000001.11:g.23092769C>T	ExAC,gnomAD
LUZP1	Q86V48	p.del499TerArgGluMetTrpArgUnk	rs776046682	stop gained	-	NC_000001.11:g.23092767_23092768insACTCTCCACATTTCCCTTCA	ExAC
LUZP1	Q86V48	p.Leu500Pro	rs1313291531	missense variant	-	NC_000001.11:g.23092763A>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Lys501Arg	rs1435512594	missense variant	-	NC_000001.11:g.23092760T>C	gnomAD
LUZP1	Q86V48	p.Lys501Asn	rs1430403141	missense variant	-	NC_000001.11:g.23092759C>A	TOPMed
LUZP1	Q86V48	p.Gly502Ala	rs756603024	missense variant	-	NC_000001.11:g.23092757C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys503Asn	rs1472020082	missense variant	-	NC_000001.11:g.23092753T>A	TOPMed
LUZP1	Q86V48	p.Thr507Lys	rs752753872	missense variant	-	NC_000001.11:g.23092742G>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg509Ter	rs1183284764	stop gained	-	NC_000001.11:g.23092737G>A	TOPMed
LUZP1	Q86V48	p.Arg509Gln	rs755167352	missense variant	-	NC_000001.11:g.23092736C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Thr510Ser	rs1477152133	missense variant	-	NC_000001.11:g.23092734T>A	gnomAD
LUZP1	Q86V48	p.Thr510Met	rs893015950	missense variant	-	NC_000001.11:g.23092733G>A	gnomAD
LUZP1	Q86V48	p.Thr510Ala	rs1477152133	missense variant	-	NC_000001.11:g.23092734T>C	gnomAD
LUZP1	Q86V48	p.Phe511Val	rs1485109991	missense variant	-	NC_000001.11:g.23092731A>C	gnomAD
LUZP1	Q86V48	p.Ser512Arg	rs1235393080	missense variant	-	NC_000001.11:g.23092728T>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser512Gly	rs1235393080	missense variant	-	NC_000001.11:g.23092728T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Asp513Gly	rs559411625	missense variant	-	NC_000001.11:g.23092724T>C	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Thr514Ile	rs1325668649	missense variant	-	NC_000001.11:g.23092721G>A	TOPMed
LUZP1	Q86V48	p.Thr515Ile	rs1227571412	missense variant	-	NC_000001.11:g.23092718G>A	TOPMed
LUZP1	Q86V48	p.His516Leu	rs1216676502	missense variant	-	NC_000001.11:g.23092715T>A	gnomAD
LUZP1	Q86V48	p.Ser518Cys	rs1281526060	missense variant	-	NC_000001.11:g.23092709G>C	TOPMed
LUZP1	Q86V48	p.Val519Leu	rs541053379	missense variant	-	NC_000001.11:g.23092707C>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Val519Asp	rs576265023	missense variant	-	NC_000001.11:g.23092706A>T	gnomAD
LUZP1	Q86V48	p.Pro520Ser	rs761662568	missense variant	-	NC_000001.11:g.23092704G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser521Gly	rs1301301030	missense variant	-	NC_000001.11:g.23092701T>C	gnomAD
LUZP1	Q86V48	p.Ser521Ile	rs1332338569	missense variant	-	NC_000001.11:g.23092700C>A	TOPMed
LUZP1	Q86V48	p.Pro523Ser	rs902972221	missense variant	-	NC_000001.11:g.23092695G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Pro523Leu	rs1355158561	missense variant	-	NC_000001.11:g.23092694G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly525Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092689C>T	NCI-TCGA
LUZP1	Q86V48	p.Gly525Asp	rs768144995	missense variant	-	NC_000001.11:g.23092688C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ala530Val	rs746590274	missense variant	-	NC_000001.11:g.23092673G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Asp532His	rs775093010	missense variant	-	NC_000001.11:g.23092668C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Thr533Ser	rs771763604	missense variant	-	NC_000001.11:g.23092664G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser534Thr	rs749617088	missense variant	-	NC_000001.11:g.23092662A>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly540Ala	rs944382375	missense variant	-	NC_000001.11:g.23092643C>G	TOPMed
LUZP1	Q86V48	p.Lys541Glu	rs199577828	missense variant	-	NC_000001.11:g.23092641T>C	1000Genomes
LUZP1	Q86V48	p.Arg542Lys	rs767273164	missense variant	-	NC_000001.11:g.23092637C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.His544Gln	rs148703766	missense variant	-	NC_000001.11:g.23092630G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val545Met	rs1196218848	missense variant	-	NC_000001.11:g.23092629C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Leu546Pro	rs781781131	missense variant	-	NC_000001.11:g.23092625A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Asn548Ser	rs1273734295	missense variant	-	NC_000001.11:g.23092619T>C	gnomAD
LUZP1	Q86V48	p.Gly549Arg	rs1319676228	missense variant	-	NC_000001.11:g.23092617C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly549Glu	rs751733328	missense variant	-	NC_000001.11:g.23092616C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly549Arg	rs1319676228	missense variant	-	NC_000001.11:g.23092617C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser550Asn	rs1443332687	missense variant	-	NC_000001.11:g.23092613C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Gln551Glu	rs543649237	missense variant	-	NC_000001.11:g.23092611G>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val552Ala	rs920136372	missense variant	-	NC_000001.11:g.23092607A>G	gnomAD
LUZP1	Q86V48	p.Gln554LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23092601_23092602insAACTCTA	NCI-TCGA
LUZP1	Q86V48	p.Gln554Arg	rs750169043	missense variant	-	NC_000001.11:g.23092601T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Gln554Ter	COSM3804398	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23092602G>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Ala555Pro	rs1396871644	missense variant	-	NC_000001.11:g.23092599C>G	gnomAD
LUZP1	Q86V48	p.Ala555Gly	rs34839810	missense variant	-	NC_000001.11:g.23092598G>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala555Asp	rs34839810	missense variant	-	NC_000001.11:g.23092598G>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala555Val	rs34839810	missense variant	-	NC_000001.11:g.23092598G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Cys560Phe	rs1384118823	missense variant	-	NC_000001.11:g.23092583C>A	TOPMed
LUZP1	Q86V48	p.Ser561Cys	COSM1340256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092580G>C	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Ile564Val	rs761520954	missense variant	-	NC_000001.11:g.23092572T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ala566Thr	rs1161760162	missense variant	-	NC_000001.11:g.23092566C>T	gnomAD
LUZP1	Q86V48	p.Ala566Asp	rs144136219	missense variant	-	NC_000001.11:g.23092565G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala568Val	rs375727547	missense variant	-	NC_000001.11:g.23092559G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser570Phe	rs775005261	missense variant	-	NC_000001.11:g.23092553G>A	ExAC
LUZP1	Q86V48	p.Arg571Ter	rs780483973	stop gained	-	NC_000001.11:g.23092551G>A	gnomAD
LUZP1	Q86V48	p.Arg571Gln	rs759123627	missense variant	-	NC_000001.11:g.23092550C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg572Ile	rs770049424	missense variant	-	NC_000001.11:g.23092547C>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu578Phe	rs781758184	missense variant	-	NC_000001.11:g.23092530G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Lys582Gln	rs769305746	missense variant	-	NC_000001.11:g.23092518T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Lys582Arg	rs747043265	missense variant	-	NC_000001.11:g.23092517T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala585Ser	rs758590414	missense variant	-	NC_000001.11:g.23092509C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ala585Val	rs145715496	missense variant	-	NC_000001.11:g.23092508G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn586Ser	rs200446654	missense variant	-	NC_000001.11:g.23092505T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn586His	COSM6125310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092506T>G	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Gly587Asp	rs753682183	missense variant	-	NC_000001.11:g.23092502C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly587Ser	rs3765409	missense variant	-	NC_000001.11:g.23092503C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp591Gly	rs763972912	missense variant	-	NC_000001.11:g.23092490T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Cys594Arg	rs1233723263	missense variant	-	NC_000001.11:g.23092482A>G	gnomAD
LUZP1	Q86V48	p.Pro595Leu	rs760639391	missense variant	-	NC_000001.11:g.23092478G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro595Ser	rs1395121571	missense variant	-	NC_000001.11:g.23092479G>A	gnomAD
LUZP1	Q86V48	p.Pro595Gln	rs760639391	missense variant	-	NC_000001.11:g.23092478G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn596Ser	rs1451190391	missense variant	-	NC_000001.11:g.23092475T>C	TOPMed
LUZP1	Q86V48	p.Lys598Glu	rs1263769857	missense variant	-	NC_000001.11:g.23092470T>C	gnomAD
LUZP1	Q86V48	p.Lys598Thr	rs773878637	missense variant	-	NC_000001.11:g.23092469T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro600Ala	rs759151843	missense variant	-	NC_000001.11:g.23092464G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Val601Phe	rs1214691647	missense variant	-	NC_000001.11:g.23092461C>A	gnomAD
LUZP1	Q86V48	p.Leu602Pro	rs773844153	missense variant	-	NC_000001.11:g.23092457A>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser603Leu	rs553735096	missense variant	-	NC_000001.11:g.23092454G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys604Asn	rs1298357162	missense variant	-	NC_000001.11:g.23092450C>G	gnomAD
LUZP1	Q86V48	p.Tyr605His	rs747533935	missense variant	-	NC_000001.11:g.23092449A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Pro606Arg	rs375157182	missense variant	-	NC_000001.11:g.23092445G>C	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Pro606Ser	rs1364705901	missense variant	-	NC_000001.11:g.23092446G>A	TOPMed
LUZP1	Q86V48	p.Tyr607Cys	rs1289760433	missense variant	-	NC_000001.11:g.23092442T>C	TOPMed
LUZP1	Q86V48	p.Ser608Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092439C>A	NCI-TCGA
LUZP1	Q86V48	p.Ser608Asn	rs1436236002	missense variant	-	NC_000001.11:g.23092439C>T	TOPMed
LUZP1	Q86V48	p.Arg610Lys	rs772044302	missense variant	-	NC_000001.11:g.23092433C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gln612Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092428G>T	NCI-TCGA
LUZP1	Q86V48	p.Glu613Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092423C>A	NCI-TCGA
LUZP1	Q86V48	p.Asn614Ser	rs746004683	missense variant	-	NC_000001.11:g.23092421T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln617Arg	rs994870077	missense variant	-	NC_000001.11:g.23092412T>C	gnomAD
LUZP1	Q86V48	p.Gly618Ala	rs898786377	missense variant	-	NC_000001.11:g.23092409C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Phe619Leu	rs762571867	missense variant	-	NC_000001.11:g.23092407A>G	gnomAD
LUZP1	Q86V48	p.Thr621Ala	rs757522429	missense variant	-	NC_000001.11:g.23092401T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser622Leu	COSM464164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092397G>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.His623Arg	rs753591265	missense variant	-	NC_000001.11:g.23092394T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys624Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092390T>G	NCI-TCGA
LUZP1	Q86V48	p.Glu625Lys	COSM3789663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092389C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Glu625Gln	COSM679022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092389C>G	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Gly626Arg	rs1189810838	missense variant	-	NC_000001.11:g.23092386C>T	gnomAD
LUZP1	Q86V48	p.Gly626Glu	rs1426593427	missense variant	-	NC_000001.11:g.23092385C>T	TOPMed
LUZP1	Q86V48	p.Val627Ile	rs777550143	missense variant	-	NC_000001.11:g.23092383C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Val627Phe	rs777550143	missense variant	-	NC_000001.11:g.23092383C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Pro630Thr	rs1200147821	missense variant	-	NC_000001.11:g.23092374G>T	gnomAD
LUZP1	Q86V48	p.Pro630Ser	rs1200147821	missense variant	-	NC_000001.11:g.23092374G>A	gnomAD
LUZP1	Q86V48	p.Ala631Thr	rs1342932044	missense variant	-	NC_000001.11:g.23092371C>T	gnomAD
LUZP1	Q86V48	p.Ala632Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092368C>T	NCI-TCGA
LUZP1	Q86V48	p.Ala632Val	rs1253185840	missense variant	-	NC_000001.11:g.23092367G>A	gnomAD
LUZP1	Q86V48	p.Val633Ala	rs370029168	missense variant	-	NC_000001.11:g.23092364A>G	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Val633Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092365C>T	NCI-TCGA
LUZP1	Q86V48	p.Met635Val	rs1276637061	missense variant	-	NC_000001.11:g.23092359T>C	gnomAD
LUZP1	Q86V48	p.Glu636Asp	rs1235537192	missense variant	-	NC_000001.11:g.23092354T>G	gnomAD
LUZP1	Q86V48	p.Ser638Asn	rs1356579699	missense variant	-	NC_000001.11:g.23092349C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser639Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092347T>G	NCI-TCGA
LUZP1	Q86V48	p.Pro640Ser	rs199684288	missense variant	-	NC_000001.11:g.23092344G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro640Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092344G>C	NCI-TCGA
LUZP1	Q86V48	p.Pro640Leu	rs765904214	missense variant	-	NC_000001.11:g.23092343G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.His641Arg	rs200226163	missense variant	-	NC_000001.11:g.23092340T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu642Lys	rs550252407	missense variant	-	NC_000001.11:g.23092338C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala643Ser	rs1367728917	missense variant	-	NC_000001.11:g.23092335C>A	gnomAD
LUZP1	Q86V48	p.Ala643Val	rs761192667	missense variant	-	NC_000001.11:g.23092334G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu644Val	rs1365904492	missense variant	-	NC_000001.11:g.23092332A>C	TOPMed
LUZP1	Q86V48	p.Leu644Phe	rs901979657	missense variant	-	NC_000001.11:g.23092330C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Arg647Gln	rs745888186	missense variant	-	NC_000001.11:g.23092322C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg647Ter	rs530578059	stop gained	-	NC_000001.11:g.23092323G>A	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg647Gly	rs530578059	missense variant	-	NC_000001.11:g.23092323G>C	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Val648Ile	rs774523044	missense variant	-	NC_000001.11:g.23092320C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys650Glu	rs1185800157	missense variant	-	NC_000001.11:g.23092314T>C	gnomAD
LUZP1	Q86V48	p.Ser651Cys	rs35645814	missense variant	-	NC_000001.11:g.23092310G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly653Asp	COSM4029682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092304C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Arg654Gly	rs1239273134	missense variant	-	NC_000001.11:g.23092302T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Arg654Thr	COSM3789662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092301C>G	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Asp660Asn	COSM3789661	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092284C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Leu663Phe	rs780937992	missense variant	-	NC_000001.11:g.23092273C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Leu663Val	rs755871756	missense variant	-	NC_000001.11:g.23092275A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Leu663Ser	rs747986361	missense variant	-	NC_000001.11:g.23092274A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ile665Lys	rs1397568089	missense variant	-	NC_000001.11:g.23092268A>T	gnomAD
LUZP1	Q86V48	p.Ile665Thr	rs1397568089	missense variant	-	NC_000001.11:g.23092268A>G	gnomAD
LUZP1	Q86V48	p.Ile665Val	rs750965450	missense variant	-	NC_000001.11:g.23092269T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Leu668Ile	rs1356163918	missense variant	-	NC_000001.11:g.23092260G>T	TOPMed
LUZP1	Q86V48	p.Leu668Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092260G>A	NCI-TCGA
LUZP1	Q86V48	p.Val669Ile	rs765924801	missense variant	-	NC_000001.11:g.23092257C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Lys672Glu	rs1461931542	missense variant	-	NC_000001.11:g.23092248T>C	gnomAD
LUZP1	Q86V48	p.Lys672Arg	rs376588481	missense variant	-	NC_000001.11:g.23092247T>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val674Glu	rs765025015	missense variant	-	NC_000001.11:g.23092241A>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val674Ala	rs765025015	missense variant	-	NC_000001.11:g.23092241A>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val674GlyPheSerTerUnkUnk	COSM1340255	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23092241_23092242insC	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Thr676Lys	rs551357646	missense variant	-	NC_000001.11:g.23092235G>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr676Arg	rs551357646	missense variant	-	NC_000001.11:g.23092235G>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr677Ala	rs533231478	missense variant	-	NC_000001.11:g.23092233T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile678Val	rs957593122	missense variant	-	NC_000001.11:g.23092230T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Pro680Ser	rs1208431971	missense variant	-	NC_000001.11:g.23092224G>A	gnomAD
LUZP1	Q86V48	p.Glu683Gln	rs1353372053	missense variant	-	NC_000001.11:g.23092215C>G	gnomAD
LUZP1	Q86V48	p.Pro684Ser	rs761260936	missense variant	-	NC_000001.11:g.23092212G>A	gnomAD
LUZP1	Q86V48	p.Pro684Ala	rs761260936	missense variant	-	NC_000001.11:g.23092212G>C	gnomAD
LUZP1	Q86V48	p.Lys685Arg	rs887882152	missense variant	-	NC_000001.11:g.23092208T>C	TOPMed
LUZP1	Q86V48	p.Pro686Arg	rs770991476	missense variant	-	NC_000001.11:g.23092205G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser690Phe	rs371048010	missense variant	-	NC_000001.11:g.23092193G>A	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Glu692Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.23092188C>A	NCI-TCGA
LUZP1	Q86V48	p.Glu692Gln	rs1441484248	missense variant	-	NC_000001.11:g.23092188C>G	gnomAD
LUZP1	Q86V48	p.Ala694Asp	rs1330461645	missense variant	-	NC_000001.11:g.23092181G>T	gnomAD
LUZP1	Q86V48	p.Arg697Gln	rs141739515	missense variant	-	NC_000001.11:g.23092172C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg697Gly	rs773399767	missense variant	-	NC_000001.11:g.23092173G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg697Ter	COSM1340254	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23092173G>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Ala699GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23092166_23092167insC	NCI-TCGA
LUZP1	Q86V48	p.Pro700AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23092164_23092165insGC	NCI-TCGA
LUZP1	Q86V48	p.Thr702Ile	rs147101646	missense variant	-	NC_000001.11:g.23092157G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu704Ile	rs746949709	missense variant	-	NC_000001.11:g.23092152G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Phe705Ser	rs1478611909	missense variant	-	NC_000001.11:g.23092148A>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Phe705Leu	rs977722884	missense variant	-	NC_000001.11:g.23092149A>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Asn707Lys	rs1403835560	missense variant	-	NC_000001.11:g.23092141A>T	TOPMed
LUZP1	Q86V48	p.Asn707Ile	rs757954527	missense variant	-	NC_000001.11:g.23092142T>A	ExAC,gnomAD
LUZP1	Q86V48	p.Lys709Glu	rs1197441015	missense variant	-	NC_000001.11:g.23092137T>C	gnomAD
LUZP1	Q86V48	p.Asp710Asn	COSM425617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092134C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Ala711Val	rs1449073608	missense variant	-	NC_000001.11:g.23092130G>A	gnomAD
LUZP1	Q86V48	p.Gly712Arg	rs1470155704	missense variant	-	NC_000001.11:g.23092128C>T	TOPMed
LUZP1	Q86V48	p.Met713Thr	rs1287234478	missense variant	-	NC_000001.11:g.23092124A>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Asn715Lys	rs750006927	missense variant	-	NC_000001.11:g.23092117A>T	ExAC,gnomAD
LUZP1	Q86V48	p.Asn715Ser	rs138698820	missense variant	-	NC_000001.11:g.23092118T>C	1000Genomes
LUZP1	Q86V48	p.Glu716Gln	rs1390209926	missense variant	-	NC_000001.11:g.23092116C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser717Phe	rs375575786	missense variant	-	NC_000001.11:g.23092112G>A	ESP,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser720Cys	rs1281768834	missense variant	-	NC_000001.11:g.23092103G>C	gnomAD
LUZP1	Q86V48	p.Val721Leu	rs757002468	missense variant	-	NC_000001.11:g.23092101C>G	ExAC
LUZP1	Q86V48	p.Asn726Ser	rs767939656	missense variant	-	NC_000001.11:g.23092085T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asn726Asp	rs752939097	missense variant	-	NC_000001.11:g.23092086T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr727Ala	rs144862656	missense variant	-	NC_000001.11:g.23092083T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met728Val	rs200093429	missense variant	-	NC_000001.11:g.23092080T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met728Leu	rs200093429	missense variant	-	NC_000001.11:g.23092080T>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met728Ile	rs1204662594	missense variant	-	NC_000001.11:g.23092078C>T	TOPMed
LUZP1	Q86V48	p.Met728Thr	COSM4029680	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23092079A>G	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Leu730Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092074G>A	NCI-TCGA
LUZP1	Q86V48	p.Pro731Leu	rs1358882948	missense variant	-	NC_000001.11:g.23092070G>A	gnomAD
LUZP1	Q86V48	p.Thr733Asn	rs970181905	missense variant	-	NC_000001.11:g.23092064G>T	TOPMed
LUZP1	Q86V48	p.Asn734Ser	rs762105032	missense variant	-	NC_000001.11:g.23092061T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala736Val	rs1476691398	missense variant	-	NC_000001.11:g.23092055G>A	gnomAD
LUZP1	Q86V48	p.Gly737Ala	rs1264285120	missense variant	-	NC_000001.11:g.23092052C>G	gnomAD
LUZP1	Q86V48	p.Pro743Leu	rs776773672	missense variant	-	NC_000001.11:g.23092034G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Phe744LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23092030A>-	NCI-TCGA
LUZP1	Q86V48	p.Phe744Leu	rs1259174059	missense variant	-	NC_000001.11:g.23092030A>T	gnomAD
LUZP1	Q86V48	p.Ala749Val	rs1244632424	missense variant	-	NC_000001.11:g.23092016G>A	TOPMed
LUZP1	Q86V48	p.Arg751Trp	rs146031719	missense variant	-	NC_000001.11:g.23092011G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg751Pro	rs372659813	missense variant	-	NC_000001.11:g.23092010C>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg751Gln	rs372659813	missense variant	-	NC_000001.11:g.23092010C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser752Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23092008A>T	NCI-TCGA
LUZP1	Q86V48	p.Ser752Phe	rs1277274874	missense variant	-	NC_000001.11:g.23092007G>A	gnomAD
LUZP1	Q86V48	p.Ile755Val	rs1450690000	missense variant	-	NC_000001.11:g.23091999T>C	gnomAD
LUZP1	Q86V48	p.Ile755AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23091992_23091998TTGATGA>-	NCI-TCGA
LUZP1	Q86V48	p.Ile756Val	rs1357192498	missense variant	-	NC_000001.11:g.23091996T>C	gnomAD
LUZP1	Q86V48	p.Pro758Ala	rs756802957	missense variant	-	NC_000001.11:g.23091990G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val759Ile	rs1332298802	missense variant	-	NC_000001.11:g.23091987C>T	gnomAD
LUZP1	Q86V48	p.Val759Gly	rs753517977	missense variant	-	NC_000001.11:g.23091986A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ile760Thr	rs777328329	missense variant	-	NC_000001.11:g.23091983A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Asp762Ala	rs755346107	missense variant	-	NC_000001.11:g.23091977T>G	ExAC
LUZP1	Q86V48	p.Asp764Glu	rs751890782	missense variant	-	NC_000001.11:g.23091970A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asp764Tyr	rs1464886549	missense variant	-	NC_000001.11:g.23091972C>A	TOPMed
LUZP1	Q86V48	p.Lys767Thr	rs766832036	missense variant	-	NC_000001.11:g.23091962T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile768Val	rs1207264434	missense variant	-	NC_000001.11:g.23091960T>C	TOPMed
LUZP1	Q86V48	p.Met769Val	rs1420539473	missense variant	-	NC_000001.11:g.23091957T>C	gnomAD
LUZP1	Q86V48	p.Gly771Val	rs576533371	missense variant	-	NC_000001.11:g.23091950C>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly771Glu	rs576533371	missense variant	-	NC_000001.11:g.23091950C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser772Pro	rs750441745	missense variant	-	NC_000001.11:g.23091948A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gly773Arg	rs765284876	missense variant	-	NC_000001.11:g.23091945C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly773Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091944C>T	NCI-TCGA
LUZP1	Q86V48	p.Glu775Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091939C>T	NCI-TCGA
LUZP1	Q86V48	p.Thr776Ser	rs761862859	missense variant	-	NC_000001.11:g.23091935G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr777Met	rs113860430	missense variant	-	NC_000001.11:g.23091932G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu778Trp	rs1336633330	missense variant	-	NC_000001.11:g.23091929A>C	gnomAD
LUZP1	Q86V48	p.Glu779Asp	rs775461037	missense variant	-	NC_000001.11:g.23091925C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Pro783Arg	rs747199376	missense variant	-	NC_000001.11:g.23091914G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val784Ile	rs779054767	missense variant	-	NC_000001.11:g.23091912C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val784Leu	rs779054767	missense variant	-	NC_000001.11:g.23091912C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro787Ser	rs770442161	missense variant	-	NC_000001.11:g.23091903G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly788Arg	rs748794629	missense variant	-	NC_000001.11:g.23091900C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr793Arg	rs1331236392	missense variant	-	NC_000001.11:g.23091884G>C	gnomAD
LUZP1	Q86V48	p.Ser794Asn	rs887326975	missense variant	-	NC_000001.11:g.23091881C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser795Gly	rs1397093078	missense variant	-	NC_000001.11:g.23091879T>C	gnomAD
LUZP1	Q86V48	p.Ile796Val	rs777431769	missense variant	-	NC_000001.11:g.23091876T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile796Phe	rs777431769	missense variant	-	NC_000001.11:g.23091876T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr797Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091872G>T	NCI-TCGA
LUZP1	Q86V48	p.Thr797Ile	rs755749569	missense variant	-	NC_000001.11:g.23091872G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Asp802Asn	rs187986579	missense variant	-	NC_000001.11:g.23091858C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ser805Gly	rs1439747048	missense variant	-	NC_000001.11:g.23091849T>C	gnomAD
LUZP1	Q86V48	p.Pro806Arg	rs1429453490	missense variant	-	NC_000001.11:g.23091845G>C	TOPMed
LUZP1	Q86V48	p.Arg807Gly	rs568032709	missense variant	-	NC_000001.11:g.23091843T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala809Thr	rs1176655946	missense variant	-	NC_000001.11:g.23091837C>T	gnomAD
LUZP1	Q86V48	p.Pro810Ala	rs1469781712	missense variant	-	NC_000001.11:g.23091834G>C	gnomAD
LUZP1	Q86V48	p.Pro810Leu	rs758820038	missense variant	-	NC_000001.11:g.23091833G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Glu812Asp	rs1489760175	missense variant	-	NC_000001.11:g.23091826C>A	TOPMed
LUZP1	Q86V48	p.Ala813Ser	rs765775848	missense variant	-	NC_000001.11:g.23091825C>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala813Gly	rs757339763	missense variant	-	NC_000001.11:g.23091824G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu816Lys	rs753887435	missense variant	-	NC_000001.11:g.23091816C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg817SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23091811C>-	NCI-TCGA
LUZP1	Q86V48	p.Arg817Ser	rs916031865	missense variant	-	NC_000001.11:g.23091811C>G	TOPMed
LUZP1	Q86V48	p.His818Asp	rs1402844598	missense variant	-	NC_000001.11:g.23091810G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr819Ile	rs764336667	missense variant	-	NC_000001.11:g.23091806G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser820Tyr	rs1370382226	missense variant	-	NC_000001.11:g.23091803G>T	gnomAD
LUZP1	Q86V48	p.Thr821Ser	rs760815764	missense variant	-	NC_000001.11:g.23091800G>C	ExAC
LUZP1	Q86V48	p.Asn823Ser	rs572398073	missense variant	-	NC_000001.11:g.23091794T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln825Leu	rs200781971	missense variant	-	NC_000001.11:g.23091788T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln825Ter	rs1282460760	stop gained	-	NC_000001.11:g.23091789G>A	TOPMed
LUZP1	Q86V48	p.Gln825His	COSM6062181	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091787C>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Val826Leu	rs759472987	missense variant	-	NC_000001.11:g.23091786C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ala829Val	rs146253473	missense variant	-	NC_000001.11:g.23091776G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu830Gly	rs148335397	missense variant	-	NC_000001.11:g.23091773T>C	ESP,TOPMed
LUZP1	Q86V48	p.Leu831Phe	rs1044732930	missense variant	-	NC_000001.11:g.23091771G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Val834Ile	rs369490916	missense variant	-	NC_000001.11:g.23091762C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn836Ser	rs769429662	missense variant	-	NC_000001.11:g.23091755T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser839AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23091748_23091749insGGCCAGAGCAGAGGGGAAAAAGGAAAAGGCA	NCI-TCGA
LUZP1	Q86V48	p.Pro841His	rs1479221108	missense variant	-	NC_000001.11:g.23091740G>T	TOPMed
LUZP1	Q86V48	p.Phe842Ile	rs780887848	missense variant	-	NC_000001.11:g.23091738A>T	ExAC,gnomAD
LUZP1	Q86V48	p.Leu844Phe	rs1314090833	missense variant	-	NC_000001.11:g.23091732G>A	gnomAD
LUZP1	Q86V48	p.His847Arg	rs1436688811	missense variant	-	NC_000001.11:g.23091722T>C	TOPMed
LUZP1	Q86V48	p.His847Gln	rs758730068	missense variant	-	NC_000001.11:g.23091721G>T	ExAC,gnomAD
LUZP1	Q86V48	p.His847Asp	rs1199454011	missense variant	-	NC_000001.11:g.23091723G>C	TOPMed
LUZP1	Q86V48	p.Lys848Glu	rs746281981	missense variant	-	NC_000001.11:g.23091720T>C	ExAC,gnomAD
LUZP1	Q86V48	p.His849Arg	rs200399818	missense variant	-	NC_000001.11:g.23091716T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile851Thr	rs753893122	missense variant	-	NC_000001.11:g.23091710A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ile851Val	rs948559960	missense variant	-	NC_000001.11:g.23091711T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr852Asn	rs764099162	missense variant	-	NC_000001.11:g.23091707G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr852Ile	rs764099162	missense variant	-	NC_000001.11:g.23091707G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln854Pro	rs756323860	missense variant	-	NC_000001.11:g.23091701T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ala858Val	rs767898208	missense variant	-	NC_000001.11:g.23091689G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met861Ile	rs1284126695	missense variant	-	NC_000001.11:g.23091679C>T	TOPMed
LUZP1	Q86V48	p.Met861Thr	rs766268988	missense variant	-	NC_000001.11:g.23091680A>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala862Val	rs1488703891	missense variant	-	NC_000001.11:g.23091677G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Pro865Arg	rs989866099	missense variant	-	NC_000001.11:g.23091668G>C	TOPMed
LUZP1	Q86V48	p.Pro865Ser	rs1214804174	missense variant	-	NC_000001.11:g.23091669G>A	gnomAD
LUZP1	Q86V48	p.Leu866Pro	rs1484257021	missense variant	-	NC_000001.11:g.23091665A>G	gnomAD
LUZP1	Q86V48	p.Lys867Asn	COSM905734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091661C>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Asp868Asn	rs10799790	missense variant	-	NC_000001.11:g.23091660C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp868Gly	rs747695588	missense variant	-	NC_000001.11:g.23091659T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Arg869Gly	rs1310968406	missense variant	-	NC_000001.11:g.23091657T>C	gnomAD
LUZP1	Q86V48	p.Thr872Arg	rs768320885	missense variant	-	NC_000001.11:g.23091647G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Arg876Trp	rs746191983	missense variant	-	NC_000001.11:g.23091636G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg876Gln	rs147117617	missense variant	-	NC_000001.11:g.23091635C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile880Met	rs771415477	missense variant	-	NC_000001.11:g.23091622T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Lys882Glu	rs1430474335	missense variant	-	NC_000001.11:g.23091618T>C	TOPMed
LUZP1	Q86V48	p.Pro883Ser	rs778414535	missense variant	-	NC_000001.11:g.23091615G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro883Leu	rs756234092	missense variant	-	NC_000001.11:g.23091614G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser884Leu	rs200873130	missense variant	-	NC_000001.11:g.23091611G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser884Ter	rs200873130	stop gained	-	NC_000001.11:g.23091611G>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro886Leu	rs766073999	missense variant	-	NC_000001.11:g.23091605G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Pro886Ser	rs1344356035	missense variant	-	NC_000001.11:g.23091606G>A	gnomAD
LUZP1	Q86V48	p.Val887Ala	rs1183357933	missense variant	-	NC_000001.11:g.23091602A>G	TOPMed
LUZP1	Q86V48	p.Glu888Gly	rs762872026	missense variant	-	NC_000001.11:g.23091599T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser891Arg	rs775355531	missense variant	-	NC_000001.11:g.23091589G>C	gnomAD
LUZP1	Q86V48	p.Ser891Asn	COSM905733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091590C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.His892Arg	rs765205403	missense variant	-	NC_000001.11:g.23091587T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ala893Val	rs1028768773	missense variant	-	NC_000001.11:g.23091584G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Ala896Val	rs145151005	missense variant	-	NC_000001.11:g.23091575G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala896Thr	COSM905732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091576C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Thr898Arg	rs1276734930	missense variant	-	NC_000001.11:g.23091569G>C	gnomAD
LUZP1	Q86V48	p.Thr898Ala	rs374297046	missense variant	-	NC_000001.11:g.23091570T>C	ESP
LUZP1	Q86V48	p.Arg900Gly	rs142090761	missense variant	-	NC_000001.11:g.23091564T>C	ESP,ExAC
LUZP1	Q86V48	p.Trp901Arg	rs779014268	missense variant	-	NC_000001.11:g.23091561A>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.His904Tyr	rs1348819941	missense variant	-	NC_000001.11:g.23091552G>A	TOPMed
LUZP1	Q86V48	p.Ala906Val	rs1398498858	missense variant	-	NC_000001.11:g.23091545G>A	gnomAD
LUZP1	Q86V48	p.Pro907Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091543G>T	NCI-TCGA
LUZP1	Q86V48	p.Val910Leu	rs1239892853	missense variant	-	NC_000001.11:g.23091534C>A	TOPMed
LUZP1	Q86V48	p.Gly911Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091531C>G	NCI-TCGA
LUZP1	Q86V48	p.Phe912Leu	rs1397783243	missense variant	-	NC_000001.11:g.23091528A>G	gnomAD
LUZP1	Q86V48	p.Phe912Leu	rs1382646821	missense variant	-	NC_000001.11:g.23091526G>C	TOPMed
LUZP1	Q86V48	p.Ser913Ter	rs536107380	stop gained	-	NC_000001.11:g.23091524G>C	gnomAD
LUZP1	Q86V48	p.Ser913Leu	rs536107380	missense variant	-	NC_000001.11:g.23091524G>A	gnomAD
LUZP1	Q86V48	p.Asp914Asn	rs1335276734	missense variant	-	NC_000001.11:g.23091522C>T	TOPMed
LUZP1	Q86V48	p.Ala915Val	rs539683128	missense variant	-	NC_000001.11:g.23091518G>A	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ala915Thr	rs781430142	missense variant	-	NC_000001.11:g.23091519C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg916Ser	rs780362065	missense variant	-	NC_000001.11:g.23091514T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Arg916Gly	rs1240148041	missense variant	-	NC_000001.11:g.23091516T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Val918Ala	rs376551417	missense variant	-	NC_000001.11:g.23091509A>G	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Thr919Ala	rs1212010929	missense variant	-	NC_000001.11:g.23091507T>C	gnomAD
LUZP1	Q86V48	p.Thr919Ile	rs765121204	missense variant	-	NC_000001.11:g.23091506G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg921Trp	rs149039238	missense variant	-	NC_000001.11:g.23091501G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg921Gln	rs371794782	missense variant	-	NC_000001.11:g.23091500C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Trp924Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.23091490C>T	NCI-TCGA
LUZP1	Q86V48	p.Lys925Arg	rs1309376633	missense variant	-	NC_000001.11:g.23091488T>C	gnomAD
LUZP1	Q86V48	p.Ser926Asn	rs143980720	missense variant	-	NC_000001.11:g.23091485C>T	ESP,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg927Ser	rs1325519352	missense variant	-	NC_000001.11:g.23091481C>G	gnomAD
LUZP1	Q86V48	p.Arg928Gln	rs199811948	missense variant	-	NC_000001.11:g.23091479C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg928Ter	COSM533130	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23091480G>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Asp929Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091477C>A	NCI-TCGA
LUZP1	Q86V48	p.Asp929His	rs547715159	missense variant	-	NC_000001.11:g.23091477C>G	1000Genomes
LUZP1	Q86V48	p.Leu930Ser	rs374054027	missense variant	-	NC_000001.11:g.23091473A>G	ESP,TOPMed
LUZP1	Q86V48	p.Leu930Phe	COSM3804393	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091472C>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Asp935His	rs771809598	missense variant	-	NC_000001.11:g.23091459C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro936Leu	rs1159342358	missense variant	-	NC_000001.11:g.23091455G>A	gnomAD
LUZP1	Q86V48	p.Pro937GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23091452G>-	NCI-TCGA
LUZP1	Q86V48	p.Pro937Ala	COSM6062182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091453G>C	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Thr938Ala	rs770363337	missense variant	-	NC_000001.11:g.23091450T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr938Ser	rs770363337	missense variant	-	NC_000001.11:g.23091450T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr938AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23091451_23091452insG	NCI-TCGA
LUZP1	Q86V48	p.Thr938Pro	rs770363337	missense variant	-	NC_000001.11:g.23091450T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr938Ile	rs1201724443	missense variant	-	NC_000001.11:g.23091449G>A	gnomAD
LUZP1	Q86V48	p.Thr938AsnPheSerTerUnk	COSM905730	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23091449_23091450insT	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Arg939Gln	rs377020005	missense variant	-	NC_000001.11:g.23091446C>T	ESP,gnomAD
LUZP1	Q86V48	p.Ile940Leu	rs748647855	missense variant	-	NC_000001.11:g.23091444T>A	ExAC,gnomAD
LUZP1	Q86V48	p.Gly941Arg	rs1267157926	missense variant	-	NC_000001.11:g.23091441C>G	gnomAD
LUZP1	Q86V48	p.Lys942Arg	rs1286655114	missense variant	-	NC_000001.11:g.23091437T>C	TOPMed
LUZP1	Q86V48	p.Val944Leu	rs549541205	missense variant	-	NC_000001.11:g.23091432C>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val944Met	rs549541205	missense variant	-	NC_000001.11:g.23091432C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu945Asp	rs758680253	missense variant	-	NC_000001.11:g.23091427T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ser946Ala	rs1350936386	missense variant	-	NC_000001.11:g.23091426A>C	gnomAD
LUZP1	Q86V48	p.Asn948Lys	rs757101914	missense variant	-	NC_000001.11:g.23091418A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asn948Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091419T>G	NCI-TCGA
LUZP1	Q86V48	p.Asn948Ser	rs778693487	missense variant	-	NC_000001.11:g.23091419T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala951Thr	rs753774095	missense variant	-	NC_000001.11:g.23091411C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Tyr952Cys	rs764061159	missense variant	-	NC_000001.11:g.23091407T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr953Ile	rs752279640	missense variant	-	NC_000001.11:g.23091404G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr953ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23091404_23091405insGGGTTTGACCTTTC	NCI-TCGA
LUZP1	Q86V48	p.Gln954His	rs1419994804	missense variant	-	NC_000001.11:g.23091400C>G	TOPMed
LUZP1	Q86V48	p.Gln954Arg	rs147463811	missense variant	-	NC_000001.11:g.23091401T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg955Lys	rs139395162	missense variant	-	NC_000001.11:g.23091398C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr958Ala	rs1174802399	missense variant	-	NC_000001.11:g.23091390T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr958Ile	rs1478663567	missense variant	-	NC_000001.11:g.23091389G>A	gnomAD
LUZP1	Q86V48	p.Asp959Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091386T>C	NCI-TCGA
LUZP1	Q86V48	p.Glu962Ter	COSM905728	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.23091378C>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Glu964Lys	rs769227184	missense variant	-	NC_000001.11:g.23091372C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Pro966Leu	rs1215504600	missense variant	-	NC_000001.11:g.23091365G>A	gnomAD
LUZP1	Q86V48	p.Arg967Gly	rs1441976947	missense variant	-	NC_000001.11:g.23091363T>C	gnomAD
LUZP1	Q86V48	p.Ser968Tyr	rs1185678437	missense variant	-	NC_000001.11:g.23091359G>T	TOPMed
LUZP1	Q86V48	p.Leu970His	rs775645953	missense variant	-	NC_000001.11:g.23091353A>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu970Phe	rs542133053	missense variant	-	NC_000001.11:g.23091354G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln973Arg	rs1194636800	missense variant	-	NC_000001.11:g.23091344T>C	TOPMed
LUZP1	Q86V48	p.Gly974Asp	rs772128155	missense variant	-	NC_000001.11:g.23091341C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg976Gln	rs779176566	missense variant	-	NC_000001.11:g.23091335C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg976Gly	rs150118576	missense variant	-	NC_000001.11:g.23091336G>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg977Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091332C>A	NCI-TCGA
LUZP1	Q86V48	p.Arg977Ser	rs1220221625	missense variant	-	NC_000001.11:g.23091331C>G	gnomAD
LUZP1	Q86V48	p.Gly979Glu	rs377235379	missense variant	-	NC_000001.11:g.23091326C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro980Ala	rs749132395	missense variant	-	NC_000001.11:g.23091324G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser981Asn	rs1272963553	missense variant	-	NC_000001.11:g.23091320C>T	TOPMed
LUZP1	Q86V48	p.Ser982Leu	rs1343454761	missense variant	-	NC_000001.11:g.23091317G>A	gnomAD
LUZP1	Q86V48	p.Asp984Ala	rs756079575	missense variant	-	NC_000001.11:g.23091311T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp984Gly	rs756079575	missense variant	-	NC_000001.11:g.23091311T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp984Asn	COSM4029678	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091312C>T	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Pro988Ser	rs1271205181	missense variant	-	NC_000001.11:g.23091300G>A	TOPMed
LUZP1	Q86V48	p.Pro988Leu	rs375588518	missense variant	-	NC_000001.11:g.23091299G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser989Phe	rs952400925	missense variant	-	NC_000001.11:g.23091296G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser989Ala	rs767035749	missense variant	-	NC_000001.11:g.23091297A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser990Phe	rs1277750367	missense variant	-	NC_000001.11:g.23091293G>A	gnomAD
LUZP1	Q86V48	p.Gln994Arg	rs1192419946	missense variant	-	NC_000001.11:g.23091281T>C	gnomAD
LUZP1	Q86V48	p.Ser996ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.23091274_23091275insT	NCI-TCGA
LUZP1	Q86V48	p.Ser996Asn	rs751225533	missense variant	-	NC_000001.11:g.23091275C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ser996Gly	rs754509854	missense variant	-	NC_000001.11:g.23091276T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr998Asn	rs993638797	missense variant	-	NC_000001.11:g.23091269G>T	TOPMed
LUZP1	Q86V48	p.Val999Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091266A>G	NCI-TCGA
LUZP1	Q86V48	p.Glu1001Gln	rs183227574	missense variant	-	NC_000001.11:g.23091261C>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val1002Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23091257A>G	NCI-TCGA
LUZP1	Q86V48	p.Leu1003Val	rs1035046937	missense variant	-	NC_000001.11:g.23091255G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Leu1003Arg	rs1318304700	missense variant	-	NC_000001.11:g.23091254A>C	gnomAD
LUZP1	Q86V48	p.Leu1003Phe	rs1035046937	missense variant	-	NC_000001.11:g.23091255G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1005Pro	rs370900179	missense variant	-	NC_000001.11:g.23091248C>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1005Leu	rs370900179	missense variant	-	NC_000001.11:g.23091248C>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1005His	rs370900179	missense variant	-	NC_000001.11:g.23091248C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1005Cys	rs75606656	missense variant	-	NC_000001.11:g.23091249G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1006Pro	rs146756895	missense variant	-	NC_000001.11:g.23091245C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1006Gln	rs146756895	missense variant	-	NC_000001.11:g.23091245C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1006Trp	rs200565029	missense variant	-	NC_000001.11:g.23091246G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1008Trp	rs576296660	missense variant	-	NC_000001.11:g.23091240G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg1008Gln	rs148668095	missense variant	-	NC_000001.11:g.23091239C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp1011His	rs1309786303	missense variant	-	NC_000001.11:g.23091231C>G	TOPMed
LUZP1	Q86V48	p.Ala1016Val	rs1240777135	missense variant	-	NC_000001.11:g.23091215G>A	gnomAD
LUZP1	Q86V48	p.Ala1016Thr	rs753375560	missense variant	-	NC_000001.11:g.23091216C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Trp1018Cys	rs1180375203	missense variant	-	NC_000001.11:g.23091208C>G	gnomAD
LUZP1	Q86V48	p.His1020Arg	rs1280933996	missense variant	-	NC_000001.11:g.23091203T>C	TOPMed
LUZP1	Q86V48	p.His1020Tyr	COSM6062183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23091204G>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Ser1021Pro	rs769530479	missense variant	-	NC_000001.11:g.23091201A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ala1022Thr	rs1323357566	missense variant	-	NC_000001.11:g.23091198C>T	gnomAD
LUZP1	Q86V48	p.Glu1025Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23089051C>A	NCI-TCGA
LUZP1	Q86V48	p.Glu1025Val	rs139140747	missense variant	-	NC_000001.11:g.23089052T>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1025Ala	rs139140747	missense variant	-	NC_000001.11:g.23089052T>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1026Gly	rs750096792	missense variant	-	NC_000001.11:g.23089049T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu1027Gly	rs1285193280	missense variant	-	NC_000001.11:g.23089046T>C	TOPMed
LUZP1	Q86V48	p.Gly1028Glu	rs577053805	missense variant	-	NC_000001.11:g.23089043C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Glu1029Gly	rs753029312	missense variant	-	NC_000001.11:g.23089040T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Cys1031Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23089035A>G	NCI-TCGA
LUZP1	Q86V48	p.Cys1031Ser	rs190175949	missense variant	-	NC_000001.11:g.23089034C>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Cys1031Tyr	rs190175949	missense variant	-	NC_000001.11:g.23089034C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu1033Arg	rs1318503683	missense variant	-	NC_000001.11:g.23089028A>C	TOPMed
LUZP1	Q86V48	p.Leu1033Phe	rs1257071760	missense variant	-	NC_000001.11:g.23089029G>A	gnomAD
LUZP1	Q86V48	p.Ser1034Thr	rs12066671	missense variant	-	NC_000001.11:g.23089025C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser1034Asn	rs12066671	missense variant	-	NC_000001.11:g.23089025C>T	UniProt,dbSNP
LUZP1	Q86V48	p.Ser1034Asn	VAR_056934	missense variant	-	NC_000001.11:g.23089025C>T	UniProt
LUZP1	Q86V48	p.Ser1034Asn	rs12066671	missense variant	-	NC_000001.11:g.23089025C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val1035Ile	rs1377281267	missense variant	-	NC_000001.11:g.23089023C>T	TOPMed
LUZP1	Q86V48	p.Leu1039Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.23089011G>C	NCI-TCGA
LUZP1	Q86V48	p.Leu1039Pro	rs201626227	missense variant	-	NC_000001.11:g.23089010A>G	1000Genomes,ExAC
LUZP1	Q86V48	p.His1040Arg	rs146205890	missense variant	-	NC_000001.11:g.23089007T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn1041Ile	rs776292956	missense variant	-	NC_000001.11:g.23089004T>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser1042Phe	rs375176842	missense variant	-	NC_000001.11:g.23089001G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp1044Gly	rs1171128242	missense variant	-	NC_000001.11:g.23088995T>C	gnomAD
LUZP1	Q86V48	p.Pro1045Leu	rs768730686	missense variant	-	NC_000001.11:g.23088992G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1047Gln	rs1422840750	missense variant	-	NC_000001.11:g.23088987C>G	TOPMed
LUZP1	Q86V48	p.Glu1047Val	rs1191359092	missense variant	-	NC_000001.11:g.23088986T>A	gnomAD
LUZP1	Q86V48	p.Pro1049His	rs748482461	missense variant	-	NC_000001.11:g.23088980G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro1049Leu	rs748482461	missense variant	-	NC_000001.11:g.23088980G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro1049Ala	rs756892894	missense variant	-	NC_000001.11:g.23088981G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Gly1050Arg	rs1008379232	missense variant	-	NC_000001.11:g.23088978C>T	TOPMed
LUZP1	Q86V48	p.Gln1052Arg	rs781520796	missense variant	-	NC_000001.11:g.23088971T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu1056Gly	rs1339215388	missense variant	-	NC_000001.11:g.23088959T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1056Gln	rs766917807	missense variant	-	NC_000001.11:g.23088960C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1056Ter	rs766917807	stop gained	-	NC_000001.11:g.23088960C>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly1058Val	COSM4029677	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.23088953C>A	NCI-TCGA Cosmic
LUZP1	Q86V48	p.Arg1059Ter	rs750500052	stop gained	-	NC_000001.11:g.23088951G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1059Gln	rs765432348	missense variant	-	NC_000001.11:g.23088950C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1061Trp	rs34961909	missense variant	-	NC_000001.11:g.23088945G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1061Gln	rs776971230	missense variant	-	NC_000001.11:g.23088944C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1063Lys	rs200527448	missense variant	-	NC_000001.11:g.23088939C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg1065Gln	rs745345544	missense variant	-	NC_000001.11:g.23088932C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1065Ter	rs138641371	stop gained	-	NC_000001.11:g.23088933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1065Gly	rs138641371	missense variant	-	NC_000001.11:g.23088933G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1067Trp	rs773742057	missense variant	-	NC_000001.11:g.23088927G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg1067Gln	rs770562926	missense variant	-	NC_000001.11:g.23088926C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro1068Thr	rs748884405	missense variant	-	NC_000001.11:g.23088924G>T	ExAC,gnomAD
LUZP1	Q86V48	p.Thr1069Ala	rs777439744	missense variant	-	NC_000001.11:g.23088921T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr1069Ile	rs755311471	missense variant	-	NC_000001.11:g.23088920G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Thr1069Asn	rs755311471	missense variant	-	NC_000001.11:g.23088920G>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg1070Gly	rs1221355165	missense variant	-	NC_000001.11:g.23088918T>C	gnomAD
LUZP1	Q86V48	p.Glu1075Ter	rs1183214366	stop gained	-	NC_000001.11:g.23088903C>A	gnomAD
LUZP1	Q86V48	p.Ala2Asp	rs1268476056	missense variant	-	NC_000001.11:g.23094257G>T	TOPMed
LUZP1	Q86V48	p.Ala2Thr	rs778790707	missense variant	-	NC_000001.11:g.23094258C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu3Lys	rs749251494	missense variant	-	NC_000001.11:g.23094255C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Thr5Pro	rs1272059669	missense variant	-	NC_000001.11:g.23094249T>G	TOPMed
LUZP1	Q86V48	p.Ser6Arg	rs777913448	missense variant	-	NC_000001.11:g.23094244G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Lys8Arg	rs755678779	missense variant	-	NC_000001.11:g.23094239T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu9Ala	rs890495596	missense variant	-	NC_000001.11:g.23094236T>G	TOPMed
LUZP1	Q86V48	p.Thr10Pro	rs1021263102	missense variant	-	NC_000001.11:g.23094234T>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr10Met	rs551821811	missense variant	-	NC_000001.11:g.23094233G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala11Val	rs368769736	missense variant	-	NC_000001.11:g.23094230G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser12Cys	rs750709588	missense variant	-	NC_000001.11:g.23094227G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg14Leu	rs762252839	missense variant	-	NC_000001.11:g.23094221C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg14Cys	rs765642302	missense variant	-	NC_000001.11:g.23094222G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.His15Pro	rs1180030283	missense variant	-	NC_000001.11:g.23094218T>G	gnomAD
LUZP1	Q86V48	p.Arg17Leu	rs775688967	missense variant	-	NC_000001.11:g.23094212C>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg17Gln	rs775688967	missense variant	-	NC_000001.11:g.23094212C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg17Gly	rs760716379	missense variant	-	NC_000001.11:g.23094213G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg17Trp	rs760716379	missense variant	-	NC_000001.11:g.23094213G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Phe18Leu	rs772136562	missense variant	-	NC_000001.11:g.23094208A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Leu20Val	rs746106246	missense variant	-	NC_000001.11:g.23094204G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg25Cys	rs370488038	missense variant	-	NC_000001.11:g.23094189G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg25Leu	rs376235918	missense variant	-	NC_000001.11:g.23094188C>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg25His	rs376235918	missense variant	-	NC_000001.11:g.23094188C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg26His	rs756166621	missense variant	-	NC_000001.11:g.23094185C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg26Cys	rs1235056800	missense variant	-	NC_000001.11:g.23094186G>A	gnomAD
LUZP1	Q86V48	p.Asp28Gly	rs747559732	missense variant	-	NC_000001.11:g.23094179T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu30Trp	rs751241222	missense variant	-	NC_000001.11:g.23094173A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu32Lys	rs78627529	missense variant	-	NC_000001.11:g.23094168C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ala33Thr	rs901330271	missense variant	-	NC_000001.11:g.23094165C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Lys35Asn	rs139445275	missense variant	-	NC_000001.11:g.23094157T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys35Glu	rs533244242	missense variant	-	NC_000001.11:g.23094159T>C	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Asn36Thr	rs1173453944	missense variant	-	NC_000001.11:g.23094155T>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Asn36Ile	rs1173453944	missense variant	-	NC_000001.11:g.23094155T>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Gln38Arg	rs1377398806	missense variant	-	NC_000001.11:g.23094149T>C	gnomAD
LUZP1	Q86V48	p.Gln38Glu	rs1216975470	missense variant	-	NC_000001.11:g.23094150G>C	TOPMed
LUZP1	Q86V48	p.Gln48Arg	rs1259126305	missense variant	-	NC_000001.11:g.23094119T>C	gnomAD
LUZP1	Q86V48	p.Asp49Asn	rs373256685	missense variant	-	NC_000001.11:g.23094117C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys50Glu	rs1255153975	missense variant	-	NC_000001.11:g.23094114T>C	gnomAD
LUZP1	Q86V48	p.Gln53Pro	rs1348361752	missense variant	-	NC_000001.11:g.23094104T>G	TOPMed
LUZP1	Q86V48	p.Ser60Gly	rs1345919591	missense variant	-	NC_000001.11:g.23094084T>C	gnomAD
LUZP1	Q86V48	p.Met61Thr	rs771317525	missense variant	-	NC_000001.11:g.23094080A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ala63Val	rs762816399	missense variant	-	NC_000001.11:g.23094074G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ile65Thr	rs769810420	missense variant	-	NC_000001.11:g.23094068A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Val67Met	rs1312603022	missense variant	-	NC_000001.11:g.23094063C>T	gnomAD
LUZP1	Q86V48	p.Leu68Gln	rs748116830	missense variant	-	NC_000001.11:g.23094059A>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg69Cys	rs889846355	missense variant	-	NC_000001.11:g.23094057G>A	gnomAD
LUZP1	Q86V48	p.Arg69His	rs1168834878	missense variant	-	NC_000001.11:g.23094056C>T	gnomAD
LUZP1	Q86V48	p.Arg71Gln	rs377259906	missense variant	-	NC_000001.11:g.23094050C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg71Trp	rs536365038	missense variant	-	NC_000001.11:g.23094051G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Val72Leu	rs1332199507	missense variant	-	NC_000001.11:g.23094048C>A	TOPMed
LUZP1	Q86V48	p.Ile75Thr	rs746570470	missense variant	-	NC_000001.11:g.23094038A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Glu76Asp	rs1424273518	missense variant	-	NC_000001.11:g.23094034T>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly77Ala	rs779652593	missense variant	-	NC_000001.11:g.23094032C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Lys78Asn	rs758097272	missense variant	-	NC_000001.11:g.23094028T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu81Ala	rs1206115555	missense variant	-	NC_000001.11:g.23094020T>G	gnomAD
LUZP1	Q86V48	p.Arg90His	rs560811130	missense variant	-	NC_000001.11:g.23093993C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg90Cys	rs267598422	missense variant	-	NC_000001.11:g.23093994G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu91Val	rs753233913	missense variant	-	NC_000001.11:g.23093991G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Met92Leu	rs192209530	missense variant	-	NC_000001.11:g.23093988T>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys95Arg	rs1413547291	missense variant	-	NC_000001.11:g.23093978T>C	gnomAD
LUZP1	Q86V48	p.Glu98Asp	rs751735304	missense variant	-	NC_000001.11:g.23093968C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Asn101Ser	rs763296438	missense variant	-	NC_000001.11:g.23093960T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asn101Lys	rs1183423675	missense variant	-	NC_000001.11:g.23093959G>C	TOPMed
LUZP1	Q86V48	p.Leu102Val	rs1164426264	missense variant	-	NC_000001.11:g.23093958G>C	gnomAD
LUZP1	Q86V48	p.Arg104Gln	rs761574523	missense variant	-	NC_000001.11:g.23093951C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg104Gly	rs769728664	missense variant	-	NC_000001.11:g.23093952G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg104Trp	rs769728664	missense variant	-	NC_000001.11:g.23093952G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu109Gly	rs768518468	missense variant	-	NC_000001.11:g.23093936T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ile110Val	rs1180865136	missense variant	-	NC_000001.11:g.23093934T>C	gnomAD
LUZP1	Q86V48	p.Ile110Thr	rs1437416104	missense variant	-	NC_000001.11:g.23093933A>G	gnomAD
LUZP1	Q86V48	p.Glu111Gln	rs746508122	missense variant	-	NC_000001.11:g.23093931C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Glu111Val	rs1211647543	missense variant	-	NC_000001.11:g.23093930T>A	gnomAD
LUZP1	Q86V48	p.Arg112Trp	rs771673829	missense variant	-	NC_000001.11:g.23093928G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg112Gln	rs745524128	missense variant	-	NC_000001.11:g.23093927C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln114His	rs756496173	missense variant	-	NC_000001.11:g.23093920C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gln114Ter	rs778593622	stop gained	-	NC_000001.11:g.23093922G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg116Leu	rs149397570	missense variant	-	NC_000001.11:g.23093915C>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg116Gln	rs149397570	missense variant	-	NC_000001.11:g.23093915C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg116Ter	rs748500182	stop gained	-	NC_000001.11:g.23093916G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Glu121Gln	rs766568101	missense variant	-	NC_000001.11:g.23093901C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu124Ala	rs1393063982	missense variant	-	NC_000001.11:g.23093891T>G	gnomAD
LUZP1	Q86V48	p.Ala126Asp	rs1458716616	missense variant	-	NC_000001.11:g.23093885G>T	gnomAD
LUZP1	Q86V48	p.Phe127Leu	rs1412652796	missense variant	-	NC_000001.11:g.23093881G>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Lys131Arg	rs750665246	missense variant	-	NC_000001.11:g.23093870T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn132Ser	rs1468414898	missense variant	-	NC_000001.11:g.23093867T>C	gnomAD
LUZP1	Q86V48	p.Cys134Ser	rs765448028	missense variant	-	NC_000001.11:g.23093861C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr135Ile	rs1201266078	missense variant	-	NC_000001.11:g.23093858G>A	gnomAD
LUZP1	Q86V48	p.Cys138Tyr	rs776342041	missense variant	-	NC_000001.11:g.23093849C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Cys138Ser	rs1211924449	missense variant	-	NC_000001.11:g.23093850A>T	gnomAD
LUZP1	Q86V48	p.Asn146Tyr	rs1160293624	missense variant	-	NC_000001.11:g.23093826T>A	TOPMed
LUZP1	Q86V48	p.Thr148Ser	rs968797680	missense variant	-	NC_000001.11:g.23093819G>C	TOPMed
LUZP1	Q86V48	p.Ile151Met	rs988934298	missense variant	-	NC_000001.11:g.23093809G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser152Ala	rs374674969	missense variant	-	NC_000001.11:g.23093808A>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met157Val	rs1463436244	missense variant	-	NC_000001.11:g.23093793T>C	TOPMed
LUZP1	Q86V48	p.Arg159Gly	rs1436716822	missense variant	-	NC_000001.11:g.23093787T>C	gnomAD
LUZP1	Q86V48	p.Lys163Arg	rs1320924945	missense variant	-	NC_000001.11:g.23093774T>C	TOPMed
LUZP1	Q86V48	p.Arg171Cys	rs748493107	missense variant	-	NC_000001.11:g.23093751G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg171His	rs781437738	missense variant	-	NC_000001.11:g.23093750C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Asp173Tyr	rs755442177	missense variant	-	NC_000001.11:g.23093745C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser178Asn	rs1426982542	missense variant	-	NC_000001.11:g.23093729C>T	gnomAD
LUZP1	Q86V48	p.Leu179Ser	rs184936612	missense variant	-	NC_000001.11:g.23093726A>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ala180Val	rs1454835098	missense variant	-	NC_000001.11:g.23093723G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Glu182Lys	rs758551781	missense variant	-	NC_000001.11:g.23093718C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Lys185Gln	rs1242831261	missense variant	-	NC_000001.11:g.23093709T>G	gnomAD
LUZP1	Q86V48	p.Leu186Val	rs1445812651	missense variant	-	NC_000001.11:g.23093706G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Val194Ile	rs765477979	missense variant	-	NC_000001.11:g.23093682C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Lys198Arg	rs1230248794	missense variant	-	NC_000001.11:g.23093669T>C	gnomAD
LUZP1	Q86V48	p.Leu200Phe	rs1018070257	missense variant	-	NC_000001.11:g.23093662C>G	TOPMed
LUZP1	Q86V48	p.Asn201Ile	rs763802404	missense variant	-	NC_000001.11:g.23093660T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn201Thr	rs763802404	missense variant	-	NC_000001.11:g.23093660T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu202Ter	rs760549220	stop gained	-	NC_000001.11:g.23093658C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Glu204Gln	rs1447152644	missense variant	-	NC_000001.11:g.23093652C>G	TOPMed
LUZP1	Q86V48	p.Lys205Arg	rs1334498312	missense variant	-	NC_000001.11:g.23093648T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Asn207Ser	rs767482269	missense variant	-	NC_000001.11:g.23093642T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu208Lys	rs773754332	missense variant	-	NC_000001.11:g.23093640C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile211Leu	rs1451611394	missense variant	-	NC_000001.11:g.23093631T>G	gnomAD
LUZP1	Q86V48	p.Ile211Thr	rs770575047	missense variant	-	NC_000001.11:g.23093630A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Glu213Ala	rs1474686852	missense variant	-	NC_000001.11:g.23093624T>G	gnomAD
LUZP1	Q86V48	p.Leu214Val	rs138186722	missense variant	-	NC_000001.11:g.23093622G>C	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Leu218Arg	rs1211966720	missense variant	-	NC_000001.11:g.23093609A>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Asn221Lys	rs768886211	missense variant	-	NC_000001.11:g.23093599G>T	ExAC
LUZP1	Q86V48	p.Lys222Glu	rs1485547474	missense variant	-	NC_000001.11:g.23093598T>C	gnomAD
LUZP1	Q86V48	p.Lys223Glu	rs535181312	missense variant	-	NC_000001.11:g.23093595T>C	1000Genomes
LUZP1	Q86V48	p.Asn225His	rs1223578015	missense variant	-	NC_000001.11:g.23093589T>G	TOPMed
LUZP1	Q86V48	p.Arg226Gln	rs954113638	missense variant	-	NC_000001.11:g.23093585C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Arg226Ter	rs747448041	stop gained	-	NC_000001.11:g.23093586G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg226Gly	rs747448041	missense variant	-	NC_000001.11:g.23093586G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr229Ala	rs1294172425	missense variant	-	NC_000001.11:g.23093577T>C	gnomAD
LUZP1	Q86V48	p.Thr229Ile	rs780679864	missense variant	-	NC_000001.11:g.23093576G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Asn231Ile	rs772757233	missense variant	-	NC_000001.11:g.23093570T>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser233Phe	rs1226225628	missense variant	-	NC_000001.11:g.23093564G>A	TOPMed
LUZP1	Q86V48	p.Leu235Met	rs1414150075	missense variant	-	NC_000001.11:g.23093559G>T	gnomAD
LUZP1	Q86V48	p.Arg241Trp	rs567867516	missense variant	-	NC_000001.11:g.23093541G>A	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ile242Met	rs1309663192	missense variant	-	NC_000001.11:g.23093536A>C	gnomAD
LUZP1	Q86V48	p.Glu243Lys	rs778892208	missense variant	-	NC_000001.11:g.23093535C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly245Ser	rs757435824	missense variant	-	NC_000001.11:g.23093529C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ser247Phe	rs754019634	missense variant	-	NC_000001.11:g.23093522G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser248Phe	rs907098324	missense variant	-	NC_000001.11:g.23093519G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr249Ile	rs755871670	missense variant	-	NC_000001.11:g.23093516G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro251Leu	rs751013038	missense variant	-	NC_000001.11:g.23093510G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro251Gln	rs751013038	missense variant	-	NC_000001.11:g.23093510G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu254Asp	rs1480720555	missense variant	-	NC_000001.11:g.23093500T>A	gnomAD
LUZP1	Q86V48	p.Ser255Ter	rs895456683	stop gained	-	NC_000001.11:g.23093498G>C	TOPMed
LUZP1	Q86V48	p.Arg257Lys	rs148874653	missense variant	-	NC_000001.11:g.23093492C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys258Asn	rs1322981005	missense variant	-	NC_000001.11:g.23093488C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly259Ala	rs769615018	missense variant	-	NC_000001.11:g.23093486C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gly259Asp	rs769615018	missense variant	-	NC_000001.11:g.23093486C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly260Ala	rs1232568675	missense variant	-	NC_000001.11:g.23093483C>G	gnomAD
LUZP1	Q86V48	p.Asp262Val	rs1332622135	missense variant	-	NC_000001.11:g.23093477T>A	gnomAD
LUZP1	Q86V48	p.Lys265Asn	rs761100989	missense variant	-	NC_000001.11:g.23093467C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Val267Glu	rs1391775738	missense variant	-	NC_000001.11:g.23093462A>T	gnomAD
LUZP1	Q86V48	p.Asn269Asp	rs140949865	missense variant	-	NC_000001.11:g.23093457T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu270Lys	rs1396762906	missense variant	-	NC_000001.11:g.23093454C>T	gnomAD
LUZP1	Q86V48	p.Thr271Ile	rs772669241	missense variant	-	NC_000001.11:g.23093450G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Asn273Lys	rs746368166	missense variant	-	NC_000001.11:g.23093443G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser275Pro	rs139773081	missense variant	-	NC_000001.11:g.23093439A>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu278Lys	rs1455691548	missense variant	-	NC_000001.11:g.23093430C>T	gnomAD
LUZP1	Q86V48	p.Arg281His	rs749424632	missense variant	-	NC_000001.11:g.23093420C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg281Cys	rs142425004	missense variant	-	NC_000001.11:g.23093421G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn282Thr	rs202165883	missense variant	-	NC_000001.11:g.23093417T>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn282Ser	rs202165883	missense variant	-	NC_000001.11:g.23093417T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu284Lys	rs1209251376	missense variant	-	NC_000001.11:g.23093412C>T	gnomAD
LUZP1	Q86V48	p.Lys287Arg	rs1203257385	missense variant	-	NC_000001.11:g.23093402T>C	TOPMed
LUZP1	Q86V48	p.Val288Ala	rs368562864	missense variant	-	NC_000001.11:g.23093399A>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val288Asp	rs368562864	missense variant	-	NC_000001.11:g.23093399A>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu291Arg	rs1253035115	missense variant	-	NC_000001.11:g.23093390A>C	gnomAD
LUZP1	Q86V48	p.Gln293Pro	rs780967298	missense variant	-	NC_000001.11:g.23093384T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ile295Thr	rs754848885	missense variant	-	NC_000001.11:g.23093378A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Lys297Asn	rs1239770340	missense variant	-	NC_000001.11:g.23093371T>A	gnomAD
LUZP1	Q86V48	p.Lys297Thr	rs1269949537	missense variant	-	NC_000001.11:g.23093372T>G	gnomAD
LUZP1	Q86V48	p.Leu298Phe	rs1304077594	missense variant	-	NC_000001.11:g.23093370G>A	TOPMed
LUZP1	Q86V48	p.Thr300Ile	rs751433880	missense variant	-	NC_000001.11:g.23093363G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr300Ala	rs1220134504	missense variant	-	NC_000001.11:g.23093364T>C	TOPMed
LUZP1	Q86V48	p.Ile302Val	rs1373509100	missense variant	-	NC_000001.11:g.23093358T>C	gnomAD
LUZP1	Q86V48	p.Lys303Arg	rs1216981195	missense variant	-	NC_000001.11:g.23093354T>C	gnomAD
LUZP1	Q86V48	p.His304Arg	rs770246778	missense variant	-	NC_000001.11:g.23093351T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser307Leu	rs764936814	missense variant	-	NC_000001.11:g.23093342G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Glu310Lys	rs775931189	missense variant	-	NC_000001.11:g.23093334C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Glu310Ala	rs1454804424	missense variant	-	NC_000001.11:g.23093333T>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Glu311Lys	rs1357320634	missense variant	-	NC_000001.11:g.23093331C>T	TOPMed
LUZP1	Q86V48	p.Lys314Glu	rs533401752	missense variant	-	NC_000001.11:g.23093322T>C	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Met315Thr	rs1178106649	missense variant	-	NC_000001.11:g.23093318A>G	TOPMed
LUZP1	Q86V48	p.Met315Ile	rs559544381	missense variant	-	NC_000001.11:g.23093317C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ser317Ala	rs12091554	missense variant	-	NC_000001.11:g.23093313A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser317Ala	rs12091554	missense variant	-	NC_000001.11:g.23093313A>C	UniProt,dbSNP
LUZP1	Q86V48	p.Ser317Ala	VAR_056932	missense variant	-	NC_000001.11:g.23093313A>C	UniProt
LUZP1	Q86V48	p.Asp321Gly	rs773309233	missense variant	-	NC_000001.11:g.23093300T>C	ExAC
LUZP1	Q86V48	p.Asp321Asn	rs148009756	missense variant	-	NC_000001.11:g.23093301C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln323Arg	rs1473659016	missense variant	-	NC_000001.11:g.23093294T>C	TOPMed
LUZP1	Q86V48	p.Asp324Tyr	rs769933890	missense variant	-	NC_000001.11:g.23093292C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Tyr326Cys	rs1251535609	missense variant	-	NC_000001.11:g.23093285T>C	TOPMed
LUZP1	Q86V48	p.Leu327Ile	rs974746669	missense variant	-	NC_000001.11:g.23093283G>T	TOPMed
LUZP1	Q86V48	p.Ser328Gly	rs374473556	missense variant	-	NC_000001.11:g.23093280T>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser328Arg	rs374473556	missense variant	-	NC_000001.11:g.23093280T>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln330Arg	rs1018603810	missense variant	-	NC_000001.11:g.23093273T>C	TOPMed
LUZP1	Q86V48	p.Asn333Ser	rs961734965	missense variant	-	NC_000001.11:g.23093264T>C	gnomAD
LUZP1	Q86V48	p.Ala337Thr	rs1212004381	missense variant	-	NC_000001.11:g.23093253C>T	gnomAD
LUZP1	Q86V48	p.Leu340Val	rs140301548	missense variant	-	NC_000001.11:g.23093244G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile343Leu	rs1266620372	missense variant	-	NC_000001.11:g.23093235T>G	TOPMed
LUZP1	Q86V48	p.Leu345Pro	rs746864098	missense variant	-	NC_000001.11:g.23093228A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gln346His	rs779838081	missense variant	-	NC_000001.11:g.23093224T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gln346Arg	rs1230624769	missense variant	-	NC_000001.11:g.23093225T>C	TOPMed
LUZP1	Q86V48	p.Gly360Glu	rs758385409	missense variant	-	NC_000001.11:g.23093183C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly360Arg	rs1307303812	missense variant	-	NC_000001.11:g.23093184C>G	TOPMed
LUZP1	Q86V48	p.Glu361Gly	rs200491542	missense variant	-	NC_000001.11:g.23093180T>C	1000Genomes
LUZP1	Q86V48	p.Ala363Asp	rs749863459	missense variant	-	NC_000001.11:g.23093174G>T	ExAC,gnomAD
LUZP1	Q86V48	p.Leu365Pro	rs1395134228	missense variant	-	NC_000001.11:g.23093168A>G	TOPMed
LUZP1	Q86V48	p.Gly369Ser	rs1384896402	missense variant	-	NC_000001.11:g.23093157C>T	gnomAD
LUZP1	Q86V48	p.Gly369Asp	rs1287423296	missense variant	-	NC_000001.11:g.23093156C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Arg370Gly	rs756914509	missense variant	-	NC_000001.11:g.23093154T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg373Ser	rs1452244292	missense variant	-	NC_000001.11:g.23093143C>G	gnomAD
LUZP1	Q86V48	p.Arg373Gly	rs367566694	missense variant	-	NC_000001.11:g.23093145T>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.His379Tyr	rs759796311	missense variant	-	NC_000001.11:g.23093127G>A	ExAC,gnomAD
LUZP1	Q86V48	p.His379Gln	rs766753223	missense variant	-	NC_000001.11:g.23093125G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly380Arg	rs763518944	missense variant	-	NC_000001.11:g.23093124C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly380Glu	rs1202173142	missense variant	-	NC_000001.11:g.23093123C>T	gnomAD
LUZP1	Q86V48	p.Glu382Ala	rs1485868260	missense variant	-	NC_000001.11:g.23093117T>G	gnomAD
LUZP1	Q86V48	p.Ala383Pro	rs1279402081	missense variant	-	NC_000001.11:g.23093115C>G	gnomAD
LUZP1	Q86V48	p.Ser384Phe	rs769848698	missense variant	-	NC_000001.11:g.23093111G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Val385Met	rs748289274	missense variant	-	NC_000001.11:g.23093109C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val385Ala	rs563641084	missense variant	-	NC_000001.11:g.23093108A>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ser386Phe	rs148239864	missense variant	-	NC_000001.11:g.23093105G>A	ESP,TOPMed
LUZP1	Q86V48	p.Lys387Arg	rs747472636	missense variant	-	NC_000001.11:g.23093102T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.His388Arg	rs768975742	missense variant	-	NC_000001.11:g.23093099T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ala390Val	rs544676272	missense variant	-	NC_000001.11:g.23093093G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg391Gln	rs779054615	missense variant	-	NC_000001.11:g.23093090C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg391Trp	rs745815650	missense variant	-	NC_000001.11:g.23093091G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Glu392Lys	rs1461039250	missense variant	-	NC_000001.11:g.23093088C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Leu393Met	rs1370898687	missense variant	-	NC_000001.11:g.23093085G>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Leu393Val	rs1370898687	missense variant	-	NC_000001.11:g.23093085G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Gln396Pro	rs756822982	missense variant	-	NC_000001.11:g.23093075T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gln396His	rs753440754	missense variant	-	NC_000001.11:g.23093074C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Gln396Arg	rs756822982	missense variant	-	NC_000001.11:g.23093075T>C	ExAC,gnomAD
LUZP1	Q86V48	p.His397Arg	rs140498746	missense variant	-	NC_000001.11:g.23093072T>C	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.His397Leu	rs140498746	missense variant	-	NC_000001.11:g.23093072T>A	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Arg399Trp	rs755822569	missense variant	-	NC_000001.11:g.23093067G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg399Gln	rs376982587	missense variant	-	NC_000001.11:g.23093066C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu400Val	rs1243597738	missense variant	-	NC_000001.11:g.23093063T>A	TOPMed
LUZP1	Q86V48	p.Arg401Gln	rs369398324	missense variant	-	NC_000001.11:g.23093060C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg401Ter	rs1454162875	stop gained	-	NC_000001.11:g.23093061G>A	-
LUZP1	Q86V48	p.Arg403Trp	rs371689592	missense variant	-	NC_000001.11:g.23093055G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg403Gln	rs765769791	missense variant	-	NC_000001.11:g.23093054C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Glu406Lys	rs1413338421	missense variant	-	NC_000001.11:g.23093046C>T	gnomAD
LUZP1	Q86V48	p.Phe407Cys	rs1337970417	missense variant	-	NC_000001.11:g.23093042A>C	gnomAD
LUZP1	Q86V48	p.Asn410Ser	rs760959640	missense variant	-	NC_000001.11:g.23093033T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asn411Ser	rs775091805	missense variant	-	NC_000001.11:g.23093030T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser415Tyr	rs553062780	missense variant	-	NC_000001.11:g.23093018G>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Leu416Val	rs139904386	missense variant	-	NC_000001.11:g.23093016G>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser417Asn	rs1471038585	missense variant	-	NC_000001.11:g.23093012C>T	gnomAD
LUZP1	Q86V48	p.Gln420His	rs1162489094	missense variant	-	NC_000001.11:g.23093002C>G	TOPMed
LUZP1	Q86V48	p.Asn428Ser	rs1182777789	missense variant	-	NC_000001.11:g.23092979T>C	gnomAD
LUZP1	Q86V48	p.Ala431Gly	rs140449750	missense variant	-	NC_000001.11:g.23092970G>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys433Thr	rs1370421087	missense variant	-	NC_000001.11:g.23092964T>G	TOPMed
LUZP1	Q86V48	p.Ser435Ala	rs1164229305	missense variant	-	NC_000001.11:g.23092959A>C	TOPMed
LUZP1	Q86V48	p.Met437Val	rs780770294	missense variant	-	NC_000001.11:g.23092953T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met437Thr	rs758755928	missense variant	-	NC_000001.11:g.23092952A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Met437Leu	rs780770294	missense variant	-	NC_000001.11:g.23092953T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met437Leu	rs780770294	missense variant	-	NC_000001.11:g.23092953T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly438Arg	rs750833135	missense variant	-	NC_000001.11:g.23092950C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly438Ala	rs765687825	missense variant	-	NC_000001.11:g.23092949C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Val439Met	rs762340692	missense variant	-	NC_000001.11:g.23092947C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ser440Asn	rs145388641	missense variant	-	NC_000001.11:g.23092943C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser440Gly	rs753851989	missense variant	-	NC_000001.11:g.23092944T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser443Arg	rs760725608	missense variant	-	NC_000001.11:g.23092933A>C	ExAC
LUZP1	Q86V48	p.Gly444Arg	rs1393179477	missense variant	-	NC_000001.11:g.23092932C>T	gnomAD
LUZP1	Q86V48	p.Thr445Ile	rs375185428	missense variant	-	NC_000001.11:g.23092928G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln446His	rs555973566	missense variant	-	NC_000001.11:g.23092924C>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Glu447Asp	rs759384704	missense variant	-	NC_000001.11:g.23092921C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Lys449Asn	rs774317729	missense variant	-	NC_000001.11:g.23092915C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Asp453Glu	rs200763245	missense variant	-	NC_000001.11:g.23092903G>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg454Trp	rs372619729	missense variant	-	NC_000001.11:g.23092902G>A	ESP,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg454Gln	rs749251122	missense variant	-	NC_000001.11:g.23092901C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val456Leu	rs1454762367	missense variant	-	NC_000001.11:g.23092896C>A	gnomAD
LUZP1	Q86V48	p.Pro457Ser	rs564237938	missense variant	-	NC_000001.11:g.23092893G>A	ExAC
LUZP1	Q86V48	p.Gly458Ser	rs477830	missense variant	-	NC_000001.11:g.23092890C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly458Ser	rs477830	missense variant	-	NC_000001.11:g.23092890C>T	UniProt,dbSNP
LUZP1	Q86V48	p.Gly458Ser	VAR_026283	missense variant	-	NC_000001.11:g.23092890C>T	UniProt
LUZP1	Q86V48	p.Ser459Phe	rs1340801758	missense variant	-	NC_000001.11:g.23092886G>A	TOPMed
LUZP1	Q86V48	p.Gln461Lys	rs3765407	missense variant	-	NC_000001.11:g.23092881G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln461Arg	rs1349275576	missense variant	-	NC_000001.11:g.23092880T>C	gnomAD
LUZP1	Q86V48	p.Gln461His	rs1204926584	missense variant	-	NC_000001.11:g.23092879C>G	gnomAD
LUZP1	Q86V48	p.Ser462Asn	rs750749396	missense variant	-	NC_000001.11:g.23092877C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Glu463Lys	rs200208053	missense variant	-	NC_000001.11:g.23092875C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly464Arg	rs201798117	missense variant	-	NC_000001.11:g.23092872C>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg468Gly	rs547460294	missense variant	-	NC_000001.11:g.23092860T>C	1000Genomes
LUZP1	Q86V48	p.Gln470Arg	rs1300682135	missense variant	-	NC_000001.11:g.23092853T>C	gnomAD
LUZP1	Q86V48	p.Ser472Ala	rs1432760945	missense variant	-	NC_000001.11:g.23092848A>C	gnomAD
LUZP1	Q86V48	p.Val473Met	rs145669088	missense variant	-	NC_000001.11:g.23092845C>T	ESP,gnomAD
LUZP1	Q86V48	p.Val473Leu	rs145669088	missense variant	-	NC_000001.11:g.23092845C>A	ESP,gnomAD
LUZP1	Q86V48	p.Ser475Thr	rs1367627820	missense variant	-	NC_000001.11:g.23092838C>G	TOPMed
LUZP1	Q86V48	p.Arg476His	rs752769715	missense variant	-	NC_000001.11:g.23092835C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg476Cys	rs760779821	missense variant	-	NC_000001.11:g.23092836G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro479Arg	rs766262615	missense variant	-	NC_000001.11:g.23092826G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro479Leu	rs766262615	missense variant	-	NC_000001.11:g.23092826G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala480Gly	rs568251684	missense variant	-	NC_000001.11:g.23092823G>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln482Ter	rs1193177035	stop gained	-	NC_000001.11:g.23092818G>A	gnomAD
LUZP1	Q86V48	p.Ala487Val	rs769665786	missense variant	-	NC_000001.11:g.23092802G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Trp488Gly	rs1197040273	missense variant	-	NC_000001.11:g.23092800A>C	TOPMed
LUZP1	Q86V48	p.Lys489Thr	rs776038918	missense variant	-	NC_000001.11:g.23092796T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr491Ile	rs35917050	missense variant	-	NC_000001.11:g.23092790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr491Ser	rs35917050	missense variant	-	NC_000001.11:g.23092790G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro494Arg	rs1347138763	missense variant	-	NC_000001.11:g.23092781G>C	TOPMed
LUZP1	Q86V48	p.Gly495Asp	rs1409434891	missense variant	-	NC_000001.11:g.23092778C>T	TOPMed
LUZP1	Q86V48	p.Glu497Lys	rs563389221	missense variant	-	NC_000001.11:g.23092773C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser498Arg	rs477717	missense variant	-	NC_000001.11:g.23092768G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser498Asn	rs749655719	missense variant	-	NC_000001.11:g.23092769C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ser498Arg	rs477717	missense variant	-	NC_000001.11:g.23092768G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.del499TerArgGluMetTrpArgUnk	rs776046682	stop gained	-	NC_000001.11:g.23092767_23092768insACTCTCCACATTTCCCTTCA	ExAC
LUZP1	Q86V48	p.Leu500Pro	rs1313291531	missense variant	-	NC_000001.11:g.23092763A>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Lys501Arg	rs1435512594	missense variant	-	NC_000001.11:g.23092760T>C	gnomAD
LUZP1	Q86V48	p.Lys501Asn	rs1430403141	missense variant	-	NC_000001.11:g.23092759C>A	TOPMed
LUZP1	Q86V48	p.Gly502Ala	rs756603024	missense variant	-	NC_000001.11:g.23092757C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys503Asn	rs1472020082	missense variant	-	NC_000001.11:g.23092753T>A	TOPMed
LUZP1	Q86V48	p.Thr507Lys	rs752753872	missense variant	-	NC_000001.11:g.23092742G>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg509Ter	rs1183284764	stop gained	-	NC_000001.11:g.23092737G>A	TOPMed
LUZP1	Q86V48	p.Arg509Gln	rs755167352	missense variant	-	NC_000001.11:g.23092736C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Thr510Ser	rs1477152133	missense variant	-	NC_000001.11:g.23092734T>A	gnomAD
LUZP1	Q86V48	p.Thr510Met	rs893015950	missense variant	-	NC_000001.11:g.23092733G>A	gnomAD
LUZP1	Q86V48	p.Thr510Ala	rs1477152133	missense variant	-	NC_000001.11:g.23092734T>C	gnomAD
LUZP1	Q86V48	p.Phe511Val	rs1485109991	missense variant	-	NC_000001.11:g.23092731A>C	gnomAD
LUZP1	Q86V48	p.Ser512Arg	rs1235393080	missense variant	-	NC_000001.11:g.23092728T>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser512Gly	rs1235393080	missense variant	-	NC_000001.11:g.23092728T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Asp513Gly	rs559411625	missense variant	-	NC_000001.11:g.23092724T>C	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Thr514Ile	rs1325668649	missense variant	-	NC_000001.11:g.23092721G>A	TOPMed
LUZP1	Q86V48	p.Thr515Ile	rs1227571412	missense variant	-	NC_000001.11:g.23092718G>A	TOPMed
LUZP1	Q86V48	p.His516Leu	rs1216676502	missense variant	-	NC_000001.11:g.23092715T>A	gnomAD
LUZP1	Q86V48	p.Ser518Cys	rs1281526060	missense variant	-	NC_000001.11:g.23092709G>C	TOPMed
LUZP1	Q86V48	p.Val519Leu	rs541053379	missense variant	-	NC_000001.11:g.23092707C>G	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Val519Asp	rs576265023	missense variant	-	NC_000001.11:g.23092706A>T	gnomAD
LUZP1	Q86V48	p.Pro520Ser	rs761662568	missense variant	-	NC_000001.11:g.23092704G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser521Gly	rs1301301030	missense variant	-	NC_000001.11:g.23092701T>C	gnomAD
LUZP1	Q86V48	p.Ser521Ile	rs1332338569	missense variant	-	NC_000001.11:g.23092700C>A	TOPMed
LUZP1	Q86V48	p.Pro523Ser	rs902972221	missense variant	-	NC_000001.11:g.23092695G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Pro523Leu	rs1355158561	missense variant	-	NC_000001.11:g.23092694G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly525Asp	rs768144995	missense variant	-	NC_000001.11:g.23092688C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ala530Val	rs746590274	missense variant	-	NC_000001.11:g.23092673G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Asp532His	rs775093010	missense variant	-	NC_000001.11:g.23092668C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Thr533Ser	rs771763604	missense variant	-	NC_000001.11:g.23092664G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser534Thr	rs749617088	missense variant	-	NC_000001.11:g.23092662A>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly540Ala	rs944382375	missense variant	-	NC_000001.11:g.23092643C>G	TOPMed
LUZP1	Q86V48	p.Lys541Glu	rs199577828	missense variant	-	NC_000001.11:g.23092641T>C	1000Genomes
LUZP1	Q86V48	p.Arg542Lys	rs767273164	missense variant	-	NC_000001.11:g.23092637C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.His544Gln	rs148703766	missense variant	-	NC_000001.11:g.23092630G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val545Met	rs1196218848	missense variant	-	NC_000001.11:g.23092629C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Leu546Pro	rs781781131	missense variant	-	NC_000001.11:g.23092625A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Asn548Ser	rs1273734295	missense variant	-	NC_000001.11:g.23092619T>C	gnomAD
LUZP1	Q86V48	p.Gly549Arg	rs1319676228	missense variant	-	NC_000001.11:g.23092617C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly549Arg	rs1319676228	missense variant	-	NC_000001.11:g.23092617C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Gly549Glu	rs751733328	missense variant	-	NC_000001.11:g.23092616C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser550Asn	rs1443332687	missense variant	-	NC_000001.11:g.23092613C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Gln551Glu	rs543649237	missense variant	-	NC_000001.11:g.23092611G>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val552Ala	rs920136372	missense variant	-	NC_000001.11:g.23092607A>G	gnomAD
LUZP1	Q86V48	p.Gln554Arg	rs750169043	missense variant	-	NC_000001.11:g.23092601T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ala555Pro	rs1396871644	missense variant	-	NC_000001.11:g.23092599C>G	gnomAD
LUZP1	Q86V48	p.Ala555Asp	rs34839810	missense variant	-	NC_000001.11:g.23092598G>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala555Gly	rs34839810	missense variant	-	NC_000001.11:g.23092598G>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala555Val	rs34839810	missense variant	-	NC_000001.11:g.23092598G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Cys560Phe	rs1384118823	missense variant	-	NC_000001.11:g.23092583C>A	TOPMed
LUZP1	Q86V48	p.Ile564Val	rs761520954	missense variant	-	NC_000001.11:g.23092572T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ala566Asp	rs144136219	missense variant	-	NC_000001.11:g.23092565G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala566Thr	rs1161760162	missense variant	-	NC_000001.11:g.23092566C>T	gnomAD
LUZP1	Q86V48	p.Ala568Val	rs375727547	missense variant	-	NC_000001.11:g.23092559G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser570Phe	rs775005261	missense variant	-	NC_000001.11:g.23092553G>A	ExAC
LUZP1	Q86V48	p.Arg571Ter	rs780483973	stop gained	-	NC_000001.11:g.23092551G>A	gnomAD
LUZP1	Q86V48	p.Arg571Gln	rs759123627	missense variant	-	NC_000001.11:g.23092550C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg572Ile	rs770049424	missense variant	-	NC_000001.11:g.23092547C>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu578Phe	rs781758184	missense variant	-	NC_000001.11:g.23092530G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Lys582Gln	rs769305746	missense variant	-	NC_000001.11:g.23092518T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Lys582Arg	rs747043265	missense variant	-	NC_000001.11:g.23092517T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala585Ser	rs758590414	missense variant	-	NC_000001.11:g.23092509C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ala585Val	rs145715496	missense variant	-	NC_000001.11:g.23092508G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn586Ser	rs200446654	missense variant	-	NC_000001.11:g.23092505T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly587Asp	rs753682183	missense variant	-	NC_000001.11:g.23092502C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Gly587Ser	rs3765409	missense variant	-	NC_000001.11:g.23092503C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp591Gly	rs763972912	missense variant	-	NC_000001.11:g.23092490T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Cys594Arg	rs1233723263	missense variant	-	NC_000001.11:g.23092482A>G	gnomAD
LUZP1	Q86V48	p.Pro595Leu	rs760639391	missense variant	-	NC_000001.11:g.23092478G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro595Ser	rs1395121571	missense variant	-	NC_000001.11:g.23092479G>A	gnomAD
LUZP1	Q86V48	p.Pro595Gln	rs760639391	missense variant	-	NC_000001.11:g.23092478G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn596Ser	rs1451190391	missense variant	-	NC_000001.11:g.23092475T>C	TOPMed
LUZP1	Q86V48	p.Lys598Thr	rs773878637	missense variant	-	NC_000001.11:g.23092469T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys598Glu	rs1263769857	missense variant	-	NC_000001.11:g.23092470T>C	gnomAD
LUZP1	Q86V48	p.Pro600Ala	rs759151843	missense variant	-	NC_000001.11:g.23092464G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Val601Phe	rs1214691647	missense variant	-	NC_000001.11:g.23092461C>A	gnomAD
LUZP1	Q86V48	p.Leu602Pro	rs773844153	missense variant	-	NC_000001.11:g.23092457A>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser603Leu	rs553735096	missense variant	-	NC_000001.11:g.23092454G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys604Asn	rs1298357162	missense variant	-	NC_000001.11:g.23092450C>G	gnomAD
LUZP1	Q86V48	p.Tyr605His	rs747533935	missense variant	-	NC_000001.11:g.23092449A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Pro606Arg	rs375157182	missense variant	-	NC_000001.11:g.23092445G>C	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Pro606Ser	rs1364705901	missense variant	-	NC_000001.11:g.23092446G>A	TOPMed
LUZP1	Q86V48	p.Tyr607Cys	rs1289760433	missense variant	-	NC_000001.11:g.23092442T>C	TOPMed
LUZP1	Q86V48	p.Ser608Asn	rs1436236002	missense variant	-	NC_000001.11:g.23092439C>T	TOPMed
LUZP1	Q86V48	p.Arg610Lys	rs772044302	missense variant	-	NC_000001.11:g.23092433C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Asn614Ser	rs746004683	missense variant	-	NC_000001.11:g.23092421T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln617Arg	rs994870077	missense variant	-	NC_000001.11:g.23092412T>C	gnomAD
LUZP1	Q86V48	p.Gly618Ala	rs898786377	missense variant	-	NC_000001.11:g.23092409C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Phe619Leu	rs762571867	missense variant	-	NC_000001.11:g.23092407A>G	gnomAD
LUZP1	Q86V48	p.Thr621Ala	rs757522429	missense variant	-	NC_000001.11:g.23092401T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.His623Arg	rs753591265	missense variant	-	NC_000001.11:g.23092394T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly626Arg	rs1189810838	missense variant	-	NC_000001.11:g.23092386C>T	gnomAD
LUZP1	Q86V48	p.Gly626Glu	rs1426593427	missense variant	-	NC_000001.11:g.23092385C>T	TOPMed
LUZP1	Q86V48	p.Val627Ile	rs777550143	missense variant	-	NC_000001.11:g.23092383C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Val627Phe	rs777550143	missense variant	-	NC_000001.11:g.23092383C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Pro630Thr	rs1200147821	missense variant	-	NC_000001.11:g.23092374G>T	gnomAD
LUZP1	Q86V48	p.Pro630Ser	rs1200147821	missense variant	-	NC_000001.11:g.23092374G>A	gnomAD
LUZP1	Q86V48	p.Ala631Thr	rs1342932044	missense variant	-	NC_000001.11:g.23092371C>T	gnomAD
LUZP1	Q86V48	p.Ala632Val	rs1253185840	missense variant	-	NC_000001.11:g.23092367G>A	gnomAD
LUZP1	Q86V48	p.Val633Ala	rs370029168	missense variant	-	NC_000001.11:g.23092364A>G	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Met635Val	rs1276637061	missense variant	-	NC_000001.11:g.23092359T>C	gnomAD
LUZP1	Q86V48	p.Glu636Asp	rs1235537192	missense variant	-	NC_000001.11:g.23092354T>G	gnomAD
LUZP1	Q86V48	p.Ser638Asn	rs1356579699	missense variant	-	NC_000001.11:g.23092349C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Pro640Ser	rs199684288	missense variant	-	NC_000001.11:g.23092344G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro640Leu	rs765904214	missense variant	-	NC_000001.11:g.23092343G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.His641Arg	rs200226163	missense variant	-	NC_000001.11:g.23092340T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu642Lys	rs550252407	missense variant	-	NC_000001.11:g.23092338C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala643Ser	rs1367728917	missense variant	-	NC_000001.11:g.23092335C>A	gnomAD
LUZP1	Q86V48	p.Ala643Val	rs761192667	missense variant	-	NC_000001.11:g.23092334G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu644Val	rs1365904492	missense variant	-	NC_000001.11:g.23092332A>C	TOPMed
LUZP1	Q86V48	p.Leu644Phe	rs901979657	missense variant	-	NC_000001.11:g.23092330C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Arg647Gln	rs745888186	missense variant	-	NC_000001.11:g.23092322C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg647Ter	rs530578059	stop gained	-	NC_000001.11:g.23092323G>A	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg647Gly	rs530578059	missense variant	-	NC_000001.11:g.23092323G>C	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Val648Ile	rs774523044	missense variant	-	NC_000001.11:g.23092320C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys650Glu	rs1185800157	missense variant	-	NC_000001.11:g.23092314T>C	gnomAD
LUZP1	Q86V48	p.Ser651Cys	rs35645814	missense variant	-	NC_000001.11:g.23092310G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg654Gly	rs1239273134	missense variant	-	NC_000001.11:g.23092302T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Leu663Phe	rs780937992	missense variant	-	NC_000001.11:g.23092273C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Leu663Val	rs755871756	missense variant	-	NC_000001.11:g.23092275A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Leu663Ser	rs747986361	missense variant	-	NC_000001.11:g.23092274A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ile665Val	rs750965450	missense variant	-	NC_000001.11:g.23092269T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ile665Lys	rs1397568089	missense variant	-	NC_000001.11:g.23092268A>T	gnomAD
LUZP1	Q86V48	p.Ile665Thr	rs1397568089	missense variant	-	NC_000001.11:g.23092268A>G	gnomAD
LUZP1	Q86V48	p.Leu668Ile	rs1356163918	missense variant	-	NC_000001.11:g.23092260G>T	TOPMed
LUZP1	Q86V48	p.Val669Ile	rs765924801	missense variant	-	NC_000001.11:g.23092257C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Lys672Glu	rs1461931542	missense variant	-	NC_000001.11:g.23092248T>C	gnomAD
LUZP1	Q86V48	p.Lys672Arg	rs376588481	missense variant	-	NC_000001.11:g.23092247T>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val674Glu	rs765025015	missense variant	-	NC_000001.11:g.23092241A>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val674Ala	rs765025015	missense variant	-	NC_000001.11:g.23092241A>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr676Lys	rs551357646	missense variant	-	NC_000001.11:g.23092235G>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr676Arg	rs551357646	missense variant	-	NC_000001.11:g.23092235G>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr677Ala	rs533231478	missense variant	-	NC_000001.11:g.23092233T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile678Val	rs957593122	missense variant	-	NC_000001.11:g.23092230T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Pro680Ser	rs1208431971	missense variant	-	NC_000001.11:g.23092224G>A	gnomAD
LUZP1	Q86V48	p.Glu683Gln	rs1353372053	missense variant	-	NC_000001.11:g.23092215C>G	gnomAD
LUZP1	Q86V48	p.Pro684Ser	rs761260936	missense variant	-	NC_000001.11:g.23092212G>A	gnomAD
LUZP1	Q86V48	p.Pro684Ala	rs761260936	missense variant	-	NC_000001.11:g.23092212G>C	gnomAD
LUZP1	Q86V48	p.Lys685Arg	rs887882152	missense variant	-	NC_000001.11:g.23092208T>C	TOPMed
LUZP1	Q86V48	p.Pro686Arg	rs770991476	missense variant	-	NC_000001.11:g.23092205G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser690Phe	rs371048010	missense variant	-	NC_000001.11:g.23092193G>A	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Glu692Gln	rs1441484248	missense variant	-	NC_000001.11:g.23092188C>G	gnomAD
LUZP1	Q86V48	p.Ala694Asp	rs1330461645	missense variant	-	NC_000001.11:g.23092181G>T	gnomAD
LUZP1	Q86V48	p.Arg697Gln	rs141739515	missense variant	-	NC_000001.11:g.23092172C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Arg697Gly	rs773399767	missense variant	-	NC_000001.11:g.23092173G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr702Ile	rs147101646	missense variant	-	NC_000001.11:g.23092157G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu704Ile	rs746949709	missense variant	-	NC_000001.11:g.23092152G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Phe705Ser	rs1478611909	missense variant	-	NC_000001.11:g.23092148A>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Phe705Leu	rs977722884	missense variant	-	NC_000001.11:g.23092149A>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Asn707Lys	rs1403835560	missense variant	-	NC_000001.11:g.23092141A>T	TOPMed
LUZP1	Q86V48	p.Asn707Ile	rs757954527	missense variant	-	NC_000001.11:g.23092142T>A	ExAC,gnomAD
LUZP1	Q86V48	p.Lys709Glu	rs1197441015	missense variant	-	NC_000001.11:g.23092137T>C	gnomAD
LUZP1	Q86V48	p.Ala711Val	rs1449073608	missense variant	-	NC_000001.11:g.23092130G>A	gnomAD
LUZP1	Q86V48	p.Gly712Arg	rs1470155704	missense variant	-	NC_000001.11:g.23092128C>T	TOPMed
LUZP1	Q86V48	p.Met713Thr	rs1287234478	missense variant	-	NC_000001.11:g.23092124A>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Asn715Lys	rs750006927	missense variant	-	NC_000001.11:g.23092117A>T	ExAC,gnomAD
LUZP1	Q86V48	p.Asn715Ser	rs138698820	missense variant	-	NC_000001.11:g.23092118T>C	1000Genomes
LUZP1	Q86V48	p.Glu716Gln	rs1390209926	missense variant	-	NC_000001.11:g.23092116C>G	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser717Phe	rs375575786	missense variant	-	NC_000001.11:g.23092112G>A	ESP,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser720Cys	rs1281768834	missense variant	-	NC_000001.11:g.23092103G>C	gnomAD
LUZP1	Q86V48	p.Val721Leu	rs757002468	missense variant	-	NC_000001.11:g.23092101C>G	ExAC
LUZP1	Q86V48	p.Asn726Ser	rs767939656	missense variant	-	NC_000001.11:g.23092085T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asn726Asp	rs752939097	missense variant	-	NC_000001.11:g.23092086T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr727Ala	rs144862656	missense variant	-	NC_000001.11:g.23092083T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met728Leu	rs200093429	missense variant	-	NC_000001.11:g.23092080T>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met728Val	rs200093429	missense variant	-	NC_000001.11:g.23092080T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met728Ile	rs1204662594	missense variant	-	NC_000001.11:g.23092078C>T	TOPMed
LUZP1	Q86V48	p.Pro731Leu	rs1358882948	missense variant	-	NC_000001.11:g.23092070G>A	gnomAD
LUZP1	Q86V48	p.Thr733Asn	rs970181905	missense variant	-	NC_000001.11:g.23092064G>T	TOPMed
LUZP1	Q86V48	p.Asn734Ser	rs762105032	missense variant	-	NC_000001.11:g.23092061T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala736Val	rs1476691398	missense variant	-	NC_000001.11:g.23092055G>A	gnomAD
LUZP1	Q86V48	p.Gly737Ala	rs1264285120	missense variant	-	NC_000001.11:g.23092052C>G	gnomAD
LUZP1	Q86V48	p.Pro743Leu	rs776773672	missense variant	-	NC_000001.11:g.23092034G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Phe744Leu	rs1259174059	missense variant	-	NC_000001.11:g.23092030A>T	gnomAD
LUZP1	Q86V48	p.Ala749Val	rs1244632424	missense variant	-	NC_000001.11:g.23092016G>A	TOPMed
LUZP1	Q86V48	p.Arg751Trp	rs146031719	missense variant	-	NC_000001.11:g.23092011G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg751Pro	rs372659813	missense variant	-	NC_000001.11:g.23092010C>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg751Gln	rs372659813	missense variant	-	NC_000001.11:g.23092010C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser752Phe	rs1277274874	missense variant	-	NC_000001.11:g.23092007G>A	gnomAD
LUZP1	Q86V48	p.Ile755Val	rs1450690000	missense variant	-	NC_000001.11:g.23091999T>C	gnomAD
LUZP1	Q86V48	p.Ile756Val	rs1357192498	missense variant	-	NC_000001.11:g.23091996T>C	gnomAD
LUZP1	Q86V48	p.Pro758Ala	rs756802957	missense variant	-	NC_000001.11:g.23091990G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val759Ile	rs1332298802	missense variant	-	NC_000001.11:g.23091987C>T	gnomAD
LUZP1	Q86V48	p.Val759Gly	rs753517977	missense variant	-	NC_000001.11:g.23091986A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ile760Thr	rs777328329	missense variant	-	NC_000001.11:g.23091983A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Asp762Ala	rs755346107	missense variant	-	NC_000001.11:g.23091977T>G	ExAC
LUZP1	Q86V48	p.Asp764Glu	rs751890782	missense variant	-	NC_000001.11:g.23091970A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asp764Tyr	rs1464886549	missense variant	-	NC_000001.11:g.23091972C>A	TOPMed
LUZP1	Q86V48	p.Lys767Thr	rs766832036	missense variant	-	NC_000001.11:g.23091962T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile768Val	rs1207264434	missense variant	-	NC_000001.11:g.23091960T>C	TOPMed
LUZP1	Q86V48	p.Met769Val	rs1420539473	missense variant	-	NC_000001.11:g.23091957T>C	gnomAD
LUZP1	Q86V48	p.Gly771Val	rs576533371	missense variant	-	NC_000001.11:g.23091950C>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly771Glu	rs576533371	missense variant	-	NC_000001.11:g.23091950C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser772Pro	rs750441745	missense variant	-	NC_000001.11:g.23091948A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Gly773Arg	rs765284876	missense variant	-	NC_000001.11:g.23091945C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Thr776Ser	rs761862859	missense variant	-	NC_000001.11:g.23091935G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr777Met	rs113860430	missense variant	-	NC_000001.11:g.23091932G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu778Trp	rs1336633330	missense variant	-	NC_000001.11:g.23091929A>C	gnomAD
LUZP1	Q86V48	p.Glu779Asp	rs775461037	missense variant	-	NC_000001.11:g.23091925C>G	ExAC,gnomAD
LUZP1	Q86V48	p.Pro783Arg	rs747199376	missense variant	-	NC_000001.11:g.23091914G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val784Ile	rs779054767	missense variant	-	NC_000001.11:g.23091912C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val784Leu	rs779054767	missense variant	-	NC_000001.11:g.23091912C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro787Ser	rs770442161	missense variant	-	NC_000001.11:g.23091903G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gly788Arg	rs748794629	missense variant	-	NC_000001.11:g.23091900C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr793Arg	rs1331236392	missense variant	-	NC_000001.11:g.23091884G>C	gnomAD
LUZP1	Q86V48	p.Ser794Asn	rs887326975	missense variant	-	NC_000001.11:g.23091881C>T	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser795Gly	rs1397093078	missense variant	-	NC_000001.11:g.23091879T>C	gnomAD
LUZP1	Q86V48	p.Ile796Val	rs777431769	missense variant	-	NC_000001.11:g.23091876T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile796Phe	rs777431769	missense variant	-	NC_000001.11:g.23091876T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr797Ile	rs755749569	missense variant	-	NC_000001.11:g.23091872G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Asp802Asn	rs187986579	missense variant	-	NC_000001.11:g.23091858C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ser805Gly	rs1439747048	missense variant	-	NC_000001.11:g.23091849T>C	gnomAD
LUZP1	Q86V48	p.Pro806Arg	rs1429453490	missense variant	-	NC_000001.11:g.23091845G>C	TOPMed
LUZP1	Q86V48	p.Arg807Gly	rs568032709	missense variant	-	NC_000001.11:g.23091843T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala809Thr	rs1176655946	missense variant	-	NC_000001.11:g.23091837C>T	gnomAD
LUZP1	Q86V48	p.Pro810Ala	rs1469781712	missense variant	-	NC_000001.11:g.23091834G>C	gnomAD
LUZP1	Q86V48	p.Pro810Leu	rs758820038	missense variant	-	NC_000001.11:g.23091833G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Glu812Asp	rs1489760175	missense variant	-	NC_000001.11:g.23091826C>A	TOPMed
LUZP1	Q86V48	p.Ala813Ser	rs765775848	missense variant	-	NC_000001.11:g.23091825C>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala813Gly	rs757339763	missense variant	-	NC_000001.11:g.23091824G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu816Lys	rs753887435	missense variant	-	NC_000001.11:g.23091816C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg817Ser	rs916031865	missense variant	-	NC_000001.11:g.23091811C>G	TOPMed
LUZP1	Q86V48	p.His818Asp	rs1402844598	missense variant	-	NC_000001.11:g.23091810G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr819Ile	rs764336667	missense variant	-	NC_000001.11:g.23091806G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser820Tyr	rs1370382226	missense variant	-	NC_000001.11:g.23091803G>T	gnomAD
LUZP1	Q86V48	p.Thr821Ser	rs760815764	missense variant	-	NC_000001.11:g.23091800G>C	ExAC
LUZP1	Q86V48	p.Asn823Ser	rs572398073	missense variant	-	NC_000001.11:g.23091794T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln825Ter	rs1282460760	stop gained	-	NC_000001.11:g.23091789G>A	TOPMed
LUZP1	Q86V48	p.Gln825Leu	rs200781971	missense variant	-	NC_000001.11:g.23091788T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val826Leu	rs759472987	missense variant	-	NC_000001.11:g.23091786C>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ala829Val	rs146253473	missense variant	-	NC_000001.11:g.23091776G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu830Gly	rs148335397	missense variant	-	NC_000001.11:g.23091773T>C	ESP,TOPMed
LUZP1	Q86V48	p.Leu831Phe	rs1044732930	missense variant	-	NC_000001.11:g.23091771G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Val834Ile	rs369490916	missense variant	-	NC_000001.11:g.23091762C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn836Ser	rs769429662	missense variant	-	NC_000001.11:g.23091755T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Pro841His	rs1479221108	missense variant	-	NC_000001.11:g.23091740G>T	TOPMed
LUZP1	Q86V48	p.Phe842Ile	rs780887848	missense variant	-	NC_000001.11:g.23091738A>T	ExAC,gnomAD
LUZP1	Q86V48	p.Leu844Phe	rs1314090833	missense variant	-	NC_000001.11:g.23091732G>A	gnomAD
LUZP1	Q86V48	p.His847Arg	rs1436688811	missense variant	-	NC_000001.11:g.23091722T>C	TOPMed
LUZP1	Q86V48	p.His847Gln	rs758730068	missense variant	-	NC_000001.11:g.23091721G>T	ExAC,gnomAD
LUZP1	Q86V48	p.His847Asp	rs1199454011	missense variant	-	NC_000001.11:g.23091723G>C	TOPMed
LUZP1	Q86V48	p.Lys848Glu	rs746281981	missense variant	-	NC_000001.11:g.23091720T>C	ExAC,gnomAD
LUZP1	Q86V48	p.His849Arg	rs200399818	missense variant	-	NC_000001.11:g.23091716T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile851Thr	rs753893122	missense variant	-	NC_000001.11:g.23091710A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ile851Val	rs948559960	missense variant	-	NC_000001.11:g.23091711T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr852Asn	rs764099162	missense variant	-	NC_000001.11:g.23091707G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr852Ile	rs764099162	missense variant	-	NC_000001.11:g.23091707G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln854Pro	rs756323860	missense variant	-	NC_000001.11:g.23091701T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ala858Val	rs767898208	missense variant	-	NC_000001.11:g.23091689G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Met861Ile	rs1284126695	missense variant	-	NC_000001.11:g.23091679C>T	TOPMed
LUZP1	Q86V48	p.Met861Thr	rs766268988	missense variant	-	NC_000001.11:g.23091680A>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala862Val	rs1488703891	missense variant	-	NC_000001.11:g.23091677G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Pro865Arg	rs989866099	missense variant	-	NC_000001.11:g.23091668G>C	TOPMed
LUZP1	Q86V48	p.Pro865Ser	rs1214804174	missense variant	-	NC_000001.11:g.23091669G>A	gnomAD
LUZP1	Q86V48	p.Leu866Pro	rs1484257021	missense variant	-	NC_000001.11:g.23091665A>G	gnomAD
LUZP1	Q86V48	p.Asp868Asn	rs10799790	missense variant	-	NC_000001.11:g.23091660C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp868Gly	rs747695588	missense variant	-	NC_000001.11:g.23091659T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Arg869Gly	rs1310968406	missense variant	-	NC_000001.11:g.23091657T>C	gnomAD
LUZP1	Q86V48	p.Thr872Arg	rs768320885	missense variant	-	NC_000001.11:g.23091647G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Arg876Trp	rs746191983	missense variant	-	NC_000001.11:g.23091636G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg876Gln	rs147117617	missense variant	-	NC_000001.11:g.23091635C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ile880Met	rs771415477	missense variant	-	NC_000001.11:g.23091622T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Lys882Glu	rs1430474335	missense variant	-	NC_000001.11:g.23091618T>C	TOPMed
LUZP1	Q86V48	p.Pro883Ser	rs778414535	missense variant	-	NC_000001.11:g.23091615G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro883Leu	rs756234092	missense variant	-	NC_000001.11:g.23091614G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser884Leu	rs200873130	missense variant	-	NC_000001.11:g.23091611G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser884Ter	rs200873130	stop gained	-	NC_000001.11:g.23091611G>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro886Leu	rs766073999	missense variant	-	NC_000001.11:g.23091605G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Pro886Ser	rs1344356035	missense variant	-	NC_000001.11:g.23091606G>A	gnomAD
LUZP1	Q86V48	p.Val887Ala	rs1183357933	missense variant	-	NC_000001.11:g.23091602A>G	TOPMed
LUZP1	Q86V48	p.Glu888Gly	rs762872026	missense variant	-	NC_000001.11:g.23091599T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser891Arg	rs775355531	missense variant	-	NC_000001.11:g.23091589G>C	gnomAD
LUZP1	Q86V48	p.His892Arg	rs765205403	missense variant	-	NC_000001.11:g.23091587T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ala893Val	rs1028768773	missense variant	-	NC_000001.11:g.23091584G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Ala896Val	rs145151005	missense variant	-	NC_000001.11:g.23091575G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr898Arg	rs1276734930	missense variant	-	NC_000001.11:g.23091569G>C	gnomAD
LUZP1	Q86V48	p.Thr898Ala	rs374297046	missense variant	-	NC_000001.11:g.23091570T>C	ESP
LUZP1	Q86V48	p.Arg900Gly	rs142090761	missense variant	-	NC_000001.11:g.23091564T>C	ESP,ExAC
LUZP1	Q86V48	p.Trp901Arg	rs779014268	missense variant	-	NC_000001.11:g.23091561A>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.His904Tyr	rs1348819941	missense variant	-	NC_000001.11:g.23091552G>A	TOPMed
LUZP1	Q86V48	p.Ala906Val	rs1398498858	missense variant	-	NC_000001.11:g.23091545G>A	gnomAD
LUZP1	Q86V48	p.Val910Leu	rs1239892853	missense variant	-	NC_000001.11:g.23091534C>A	TOPMed
LUZP1	Q86V48	p.Phe912Leu	rs1397783243	missense variant	-	NC_000001.11:g.23091528A>G	gnomAD
LUZP1	Q86V48	p.Phe912Leu	rs1382646821	missense variant	-	NC_000001.11:g.23091526G>C	TOPMed
LUZP1	Q86V48	p.Ser913Ter	rs536107380	stop gained	-	NC_000001.11:g.23091524G>C	gnomAD
LUZP1	Q86V48	p.Ser913Leu	rs536107380	missense variant	-	NC_000001.11:g.23091524G>A	gnomAD
LUZP1	Q86V48	p.Asp914Asn	rs1335276734	missense variant	-	NC_000001.11:g.23091522C>T	TOPMed
LUZP1	Q86V48	p.Ala915Val	rs539683128	missense variant	-	NC_000001.11:g.23091518G>A	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Ala915Thr	rs781430142	missense variant	-	NC_000001.11:g.23091519C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg916Ser	rs780362065	missense variant	-	NC_000001.11:g.23091514T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Arg916Gly	rs1240148041	missense variant	-	NC_000001.11:g.23091516T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Val918Ala	rs376551417	missense variant	-	NC_000001.11:g.23091509A>G	ESP,ExAC,gnomAD
LUZP1	Q86V48	p.Thr919Ala	rs1212010929	missense variant	-	NC_000001.11:g.23091507T>C	gnomAD
LUZP1	Q86V48	p.Thr919Ile	rs765121204	missense variant	-	NC_000001.11:g.23091506G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg921Trp	rs149039238	missense variant	-	NC_000001.11:g.23091501G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg921Gln	rs371794782	missense variant	-	NC_000001.11:g.23091500C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Lys925Arg	rs1309376633	missense variant	-	NC_000001.11:g.23091488T>C	gnomAD
LUZP1	Q86V48	p.Ser926Asn	rs143980720	missense variant	-	NC_000001.11:g.23091485C>T	ESP,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg927Ser	rs1325519352	missense variant	-	NC_000001.11:g.23091481C>G	gnomAD
LUZP1	Q86V48	p.Arg928Gln	rs199811948	missense variant	-	NC_000001.11:g.23091479C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Asp929His	rs547715159	missense variant	-	NC_000001.11:g.23091477C>G	1000Genomes
LUZP1	Q86V48	p.Leu930Ser	rs374054027	missense variant	-	NC_000001.11:g.23091473A>G	ESP,TOPMed
LUZP1	Q86V48	p.Asp935His	rs771809598	missense variant	-	NC_000001.11:g.23091459C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro936Leu	rs1159342358	missense variant	-	NC_000001.11:g.23091455G>A	gnomAD
LUZP1	Q86V48	p.Thr938Ala	rs770363337	missense variant	-	NC_000001.11:g.23091450T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr938Ser	rs770363337	missense variant	-	NC_000001.11:g.23091450T>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr938Pro	rs770363337	missense variant	-	NC_000001.11:g.23091450T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr938Ile	rs1201724443	missense variant	-	NC_000001.11:g.23091449G>A	gnomAD
LUZP1	Q86V48	p.Arg939Gln	rs377020005	missense variant	-	NC_000001.11:g.23091446C>T	ESP,gnomAD
LUZP1	Q86V48	p.Ile940Leu	rs748647855	missense variant	-	NC_000001.11:g.23091444T>A	ExAC,gnomAD
LUZP1	Q86V48	p.Gly941Arg	rs1267157926	missense variant	-	NC_000001.11:g.23091441C>G	gnomAD
LUZP1	Q86V48	p.Lys942Arg	rs1286655114	missense variant	-	NC_000001.11:g.23091437T>C	TOPMed
LUZP1	Q86V48	p.Val944Met	rs549541205	missense variant	-	NC_000001.11:g.23091432C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val944Leu	rs549541205	missense variant	-	NC_000001.11:g.23091432C>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu945Asp	rs758680253	missense variant	-	NC_000001.11:g.23091427T>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ser946Ala	rs1350936386	missense variant	-	NC_000001.11:g.23091426A>C	gnomAD
LUZP1	Q86V48	p.Asn948Lys	rs757101914	missense variant	-	NC_000001.11:g.23091418A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Asn948Ser	rs778693487	missense variant	-	NC_000001.11:g.23091419T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ala951Thr	rs753774095	missense variant	-	NC_000001.11:g.23091411C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Tyr952Cys	rs764061159	missense variant	-	NC_000001.11:g.23091407T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr953Ile	rs752279640	missense variant	-	NC_000001.11:g.23091404G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln954Arg	rs147463811	missense variant	-	NC_000001.11:g.23091401T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln954His	rs1419994804	missense variant	-	NC_000001.11:g.23091400C>G	TOPMed
LUZP1	Q86V48	p.Arg955Lys	rs139395162	missense variant	-	NC_000001.11:g.23091398C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Thr958Ala	rs1174802399	missense variant	-	NC_000001.11:g.23091390T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Thr958Ile	rs1478663567	missense variant	-	NC_000001.11:g.23091389G>A	gnomAD
LUZP1	Q86V48	p.Glu964Lys	rs769227184	missense variant	-	NC_000001.11:g.23091372C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Pro966Leu	rs1215504600	missense variant	-	NC_000001.11:g.23091365G>A	gnomAD
LUZP1	Q86V48	p.Arg967Gly	rs1441976947	missense variant	-	NC_000001.11:g.23091363T>C	gnomAD
LUZP1	Q86V48	p.Ser968Tyr	rs1185678437	missense variant	-	NC_000001.11:g.23091359G>T	TOPMed
LUZP1	Q86V48	p.Leu970His	rs775645953	missense variant	-	NC_000001.11:g.23091353A>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu970Phe	rs542133053	missense variant	-	NC_000001.11:g.23091354G>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Gln973Arg	rs1194636800	missense variant	-	NC_000001.11:g.23091344T>C	TOPMed
LUZP1	Q86V48	p.Gly974Asp	rs772128155	missense variant	-	NC_000001.11:g.23091341C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg976Gln	rs779176566	missense variant	-	NC_000001.11:g.23091335C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg976Gly	rs150118576	missense variant	-	NC_000001.11:g.23091336G>C	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg977Ser	rs1220221625	missense variant	-	NC_000001.11:g.23091331C>G	gnomAD
LUZP1	Q86V48	p.Gly979Glu	rs377235379	missense variant	-	NC_000001.11:g.23091326C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro980Ala	rs749132395	missense variant	-	NC_000001.11:g.23091324G>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser981Asn	rs1272963553	missense variant	-	NC_000001.11:g.23091320C>T	TOPMed
LUZP1	Q86V48	p.Ser982Leu	rs1343454761	missense variant	-	NC_000001.11:g.23091317G>A	gnomAD
LUZP1	Q86V48	p.Asp984Ala	rs756079575	missense variant	-	NC_000001.11:g.23091311T>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp984Gly	rs756079575	missense variant	-	NC_000001.11:g.23091311T>C	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro988Ser	rs1271205181	missense variant	-	NC_000001.11:g.23091300G>A	TOPMed
LUZP1	Q86V48	p.Pro988Leu	rs375588518	missense variant	-	NC_000001.11:g.23091299G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser989Phe	rs952400925	missense variant	-	NC_000001.11:g.23091296G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Ser989Ala	rs767035749	missense variant	-	NC_000001.11:g.23091297A>C	ExAC,gnomAD
LUZP1	Q86V48	p.Ser990Phe	rs1277750367	missense variant	-	NC_000001.11:g.23091293G>A	gnomAD
LUZP1	Q86V48	p.Gln994Arg	rs1192419946	missense variant	-	NC_000001.11:g.23091281T>C	gnomAD
LUZP1	Q86V48	p.Ser996Asn	rs751225533	missense variant	-	NC_000001.11:g.23091275C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Ser996Gly	rs754509854	missense variant	-	NC_000001.11:g.23091276T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr998Asn	rs993638797	missense variant	-	NC_000001.11:g.23091269G>T	TOPMed
LUZP1	Q86V48	p.Glu1001Gln	rs183227574	missense variant	-	NC_000001.11:g.23091261C>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu1003Phe	rs1035046937	missense variant	-	NC_000001.11:g.23091255G>A	TOPMed,gnomAD
LUZP1	Q86V48	p.Leu1003Arg	rs1318304700	missense variant	-	NC_000001.11:g.23091254A>C	gnomAD
LUZP1	Q86V48	p.Leu1003Val	rs1035046937	missense variant	-	NC_000001.11:g.23091255G>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1005Pro	rs370900179	missense variant	-	NC_000001.11:g.23091248C>G	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1005His	rs370900179	missense variant	-	NC_000001.11:g.23091248C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1005Leu	rs370900179	missense variant	-	NC_000001.11:g.23091248C>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1005Cys	rs75606656	missense variant	-	NC_000001.11:g.23091249G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1006Pro	rs146756895	missense variant	-	NC_000001.11:g.23091245C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1006Trp	rs200565029	missense variant	-	NC_000001.11:g.23091246G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1006Gln	rs146756895	missense variant	-	NC_000001.11:g.23091245C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1008Trp	rs576296660	missense variant	-	NC_000001.11:g.23091240G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg1008Gln	rs148668095	missense variant	-	NC_000001.11:g.23091239C>T	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp1011His	rs1309786303	missense variant	-	NC_000001.11:g.23091231C>G	TOPMed
LUZP1	Q86V48	p.Ala1016Val	rs1240777135	missense variant	-	NC_000001.11:g.23091215G>A	gnomAD
LUZP1	Q86V48	p.Ala1016Thr	rs753375560	missense variant	-	NC_000001.11:g.23091216C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Trp1018Cys	rs1180375203	missense variant	-	NC_000001.11:g.23091208C>G	gnomAD
LUZP1	Q86V48	p.His1020Arg	rs1280933996	missense variant	-	NC_000001.11:g.23091203T>C	TOPMed
LUZP1	Q86V48	p.Ser1021Pro	rs769530479	missense variant	-	NC_000001.11:g.23091201A>G	ExAC,gnomAD
LUZP1	Q86V48	p.Ala1022Thr	rs1323357566	missense variant	-	NC_000001.11:g.23091198C>T	gnomAD
LUZP1	Q86V48	p.Glu1025Ala	rs139140747	missense variant	-	NC_000001.11:g.23089052T>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1025Val	rs139140747	missense variant	-	NC_000001.11:g.23089052T>A	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1026Gly	rs750096792	missense variant	-	NC_000001.11:g.23089049T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu1027Gly	rs1285193280	missense variant	-	NC_000001.11:g.23089046T>C	TOPMed
LUZP1	Q86V48	p.Gly1028Glu	rs577053805	missense variant	-	NC_000001.11:g.23089043C>T	1000Genomes,ExAC,gnomAD
LUZP1	Q86V48	p.Glu1029Gly	rs753029312	missense variant	-	NC_000001.11:g.23089040T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Cys1031Ser	rs190175949	missense variant	-	NC_000001.11:g.23089034C>G	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Cys1031Tyr	rs190175949	missense variant	-	NC_000001.11:g.23089034C>T	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Leu1033Arg	rs1318503683	missense variant	-	NC_000001.11:g.23089028A>C	TOPMed
LUZP1	Q86V48	p.Leu1033Phe	rs1257071760	missense variant	-	NC_000001.11:g.23089029G>A	gnomAD
LUZP1	Q86V48	p.Ser1034Asn	rs12066671	missense variant	-	NC_000001.11:g.23089025C>T	UniProt,dbSNP
LUZP1	Q86V48	p.Ser1034Asn	VAR_056934	missense variant	-	NC_000001.11:g.23089025C>T	UniProt
LUZP1	Q86V48	p.Ser1034Asn	rs12066671	missense variant	-	NC_000001.11:g.23089025C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Ser1034Thr	rs12066671	missense variant	-	NC_000001.11:g.23089025C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Val1035Ile	rs1377281267	missense variant	-	NC_000001.11:g.23089023C>T	TOPMed
LUZP1	Q86V48	p.Leu1039Pro	rs201626227	missense variant	-	NC_000001.11:g.23089010A>G	1000Genomes,ExAC
LUZP1	Q86V48	p.His1040Arg	rs146205890	missense variant	-	NC_000001.11:g.23089007T>C	1000Genomes,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asn1041Ile	rs776292956	missense variant	-	NC_000001.11:g.23089004T>A	ExAC,gnomAD
LUZP1	Q86V48	p.Ser1042Phe	rs375176842	missense variant	-	NC_000001.11:g.23089001G>A	ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Asp1044Gly	rs1171128242	missense variant	-	NC_000001.11:g.23088995T>C	gnomAD
LUZP1	Q86V48	p.Pro1045Leu	rs768730686	missense variant	-	NC_000001.11:g.23088992G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1047Gln	rs1422840750	missense variant	-	NC_000001.11:g.23088987C>G	TOPMed
LUZP1	Q86V48	p.Glu1047Val	rs1191359092	missense variant	-	NC_000001.11:g.23088986T>A	gnomAD
LUZP1	Q86V48	p.Pro1049His	rs748482461	missense variant	-	NC_000001.11:g.23088980G>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro1049Leu	rs748482461	missense variant	-	NC_000001.11:g.23088980G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro1049Ala	rs756892894	missense variant	-	NC_000001.11:g.23088981G>C	ExAC,gnomAD
LUZP1	Q86V48	p.Gly1050Arg	rs1008379232	missense variant	-	NC_000001.11:g.23088978C>T	TOPMed
LUZP1	Q86V48	p.Gln1052Arg	rs781520796	missense variant	-	NC_000001.11:g.23088971T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Glu1056Gly	rs1339215388	missense variant	-	NC_000001.11:g.23088959T>C	TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1056Gln	rs766917807	missense variant	-	NC_000001.11:g.23088960C>G	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1056Ter	rs766917807	stop gained	-	NC_000001.11:g.23088960C>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1059Ter	rs750500052	stop gained	-	NC_000001.11:g.23088951G>A	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1059Gln	rs765432348	missense variant	-	NC_000001.11:g.23088950C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1061Trp	rs34961909	missense variant	-	NC_000001.11:g.23088945G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1061Gln	rs776971230	missense variant	-	NC_000001.11:g.23088944C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Glu1063Lys	rs200527448	missense variant	-	NC_000001.11:g.23088939C>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg1065Gln	rs745345544	missense variant	-	NC_000001.11:g.23088932C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1065Ter	rs138641371	stop gained	-	NC_000001.11:g.23088933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1065Gly	rs138641371	missense variant	-	NC_000001.11:g.23088933G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Arg1067Trp	rs773742057	missense variant	-	NC_000001.11:g.23088927G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Arg1067Gln	rs770562926	missense variant	-	NC_000001.11:g.23088926C>T	ExAC,TOPMed,gnomAD
LUZP1	Q86V48	p.Pro1068Thr	rs748884405	missense variant	-	NC_000001.11:g.23088924G>T	ExAC,gnomAD
LUZP1	Q86V48	p.Thr1069Ala	rs777439744	missense variant	-	NC_000001.11:g.23088921T>C	ExAC,gnomAD
LUZP1	Q86V48	p.Thr1069Ile	rs755311471	missense variant	-	NC_000001.11:g.23088920G>A	ExAC,gnomAD
LUZP1	Q86V48	p.Thr1069Asn	rs755311471	missense variant	-	NC_000001.11:g.23088920G>T	ExAC,gnomAD
LUZP1	Q86V48	p.Arg1070Gly	rs1221355165	missense variant	-	NC_000001.11:g.23088918T>C	gnomAD
LUZP1	Q86V48	p.Glu1075Ter	rs1183214366	stop gained	-	NC_000001.11:g.23088903C>A	gnomAD
FRAS1	Q86XX4	p.Asp32Gly	rs4859905	missense variant	-	NC_000004.12:g.78066003A>G	UniProt,dbSNP
FRAS1	Q86XX4	p.Asp32Gly	VAR_069150	missense variant	-	NC_000004.12:g.78066003A>G	UniProt
FRAS1	Q86XX4	p.Pro209Ser	rs7699637	missense variant	-	NC_000004.12:g.78265046C>T	UniProt,dbSNP
FRAS1	Q86XX4	p.Pro209Ser	VAR_055808	missense variant	-	NC_000004.12:g.78265046C>T	UniProt
FRAS1	Q86XX4	p.Tyr228His	rs7682296	missense variant	-	NC_000004.12:g.78265103T>C	UniProt,dbSNP
FRAS1	Q86XX4	p.Tyr228His	VAR_055809	missense variant	-	NC_000004.12:g.78265103T>C	UniProt
FRAS1	Q86XX4	p.Ser429Tyr	rs6838959	missense variant	-	NC_000004.12:g.78284435C>A	UniProt,dbSNP
FRAS1	Q86XX4	p.Ser429Tyr	VAR_055811	missense variant	-	NC_000004.12:g.78284435C>A	UniProt
FRAS1	Q86XX4	p.Leu466Ile	rs12504081	missense variant	-	NC_000004.12:g.78284545T>A	UniProt,dbSNP
FRAS1	Q86XX4	p.Leu466Ile	VAR_055812	missense variant	-	NC_000004.12:g.78284545T>A	UniProt
FRAS1	Q86XX4	p.Met590Thr	rs35030041	missense variant	-	NC_000004.12:g.78315684T>C	UniProt,dbSNP
FRAS1	Q86XX4	p.Met590Thr	VAR_055813	missense variant	-	NC_000004.12:g.78315684T>C	UniProt
FRAS1	Q86XX4	p.Asp687Gly	rs345513	missense variant	-	NC_000004.12:g.78318909A>G	UniProt,dbSNP
FRAS1	Q86XX4	p.Asp687Gly	VAR_069151	missense variant	-	NC_000004.12:g.78318909A>G	UniProt
FRAS1	Q86XX4	p.Ile710Leu	rs345512	missense variant	-	NC_000004.12:g.78318977A>C	UniProt,dbSNP
FRAS1	Q86XX4	p.Ile710Leu	VAR_069152	missense variant	-	NC_000004.12:g.78318977A>C	UniProt
FRAS1	Q86XX4	p.Gly1023Glu	rs17459809	missense variant	-	NC_000004.12:g.78374168G>A	UniProt,dbSNP
FRAS1	Q86XX4	p.Gly1023Glu	VAR_055816	missense variant	-	NC_000004.12:g.78374168G>A	UniProt
FRAS1	Q86XX4	p.Glu1136Lys	rs12512164	missense variant	-	NC_000004.12:g.78379839G>A	UniProt,dbSNP
FRAS1	Q86XX4	p.Glu1136Lys	VAR_055817	missense variant	-	NC_000004.12:g.78379839G>A	UniProt
FRAS1	Q86XX4	p.Ala1626Val	rs17003213	missense variant	-	NC_000004.12:g.78430325C>T	UniProt,dbSNP
FRAS1	Q86XX4	p.Ala1626Val	VAR_055818	missense variant	-	NC_000004.12:g.78430325C>T	UniProt
FRAS1	Q86XX4	p.Asp2545Asn	rs4388111	missense variant	-	NC_000004.12:g.78473548G>A	UniProt,dbSNP
FRAS1	Q86XX4	p.Asp2545Asn	VAR_069153	missense variant	-	NC_000004.12:g.78473548G>A	UniProt
PDSS2	Q86YH6	p.Asn2His	rs141282833	missense variant	-	NC_000006.12:g.107459282T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Phe3Leu	RCV000328691	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107459279A>G	ClinVar
PDSS2	Q86YH6	p.Phe3Leu	rs3734675	missense variant	-	NC_000006.12:g.107459279A>G	UniProt,dbSNP
PDSS2	Q86YH6	p.Phe3Leu	VAR_049645	missense variant	-	NC_000006.12:g.107459279A>G	UniProt
PDSS2	Q86YH6	p.Phe3Leu	rs3734675	missense variant	-	NC_000006.12:g.107459279A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg4Pro	rs3734676	missense variant	-	NC_000006.12:g.107459275C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg4Pro	RCV000677023	missense variant	-	NC_000006.12:g.107459275C>G	ClinVar
PDSS2	Q86YH6	p.Arg4Pro	RCV000127444	missense variant	-	NC_000006.12:g.107459275C>G	ClinVar
PDSS2	Q86YH6	p.Gln5Ter	rs749571760	stop gained	-	NC_000006.12:g.107459273G>A	ExAC
PDSS2	Q86YH6	p.Gln5Ter	rs749571760	stop gained	-	NC_000006.12:g.107459273G>A	NCI-TCGA
PDSS2	Q86YH6	p.Leu6Gln	rs1161386156	missense variant	-	NC_000006.12:g.107459269A>T	gnomAD
PDSS2	Q86YH6	p.Leu7Val	rs1457387841	missense variant	-	NC_000006.12:g.107459267G>C	gnomAD
PDSS2	Q86YH6	p.Leu8Trp	rs377597542	missense variant	-	NC_000006.12:g.107459263A>C	ESP,TOPMed
PDSS2	Q86YH6	p.Leu8Ser	rs377597542	missense variant	-	NC_000006.12:g.107459263A>G	ESP,TOPMed
PDSS2	Q86YH6	p.His9Arg	rs1419713675	missense variant	-	NC_000006.12:g.107459260T>C	TOPMed,gnomAD
PDSS2	Q86YH6	p.His9Asp	rs1368951996	missense variant	-	NC_000006.12:g.107459261G>C	gnomAD
PDSS2	Q86YH6	p.Arg12Gly	rs769947770	missense variant	-	NC_000006.12:g.107459252G>C	NCI-TCGA
PDSS2	Q86YH6	p.Arg12Gly	rs769947770	missense variant	-	NC_000006.12:g.107459252G>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Arg12His	rs757780479	missense variant	-	NC_000006.12:g.107459251C>T	TOPMed
PDSS2	Q86YH6	p.Arg12Pro	COSM4846594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107459251C>G	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Tyr13Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107459248T>G	NCI-TCGA
PDSS2	Q86YH6	p.Tyr13Cys	rs1261763009	missense variant	-	NC_000006.12:g.107459248T>C	gnomAD
PDSS2	Q86YH6	p.Leu14Phe	rs748185845	missense variant	-	NC_000006.12:g.107459246G>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Ser17Leu	rs373021095	missense variant	-	NC_000006.12:g.107459236G>A	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Gly18Asp	rs1222179212	missense variant	-	NC_000006.12:g.107459233C>T	TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser19Phe	rs1267747373	missense variant	-	NC_000006.12:g.107459230G>A	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Ser19Phe	rs1267747373	missense variant	-	NC_000006.12:g.107459230G>A	gnomAD
PDSS2	Q86YH6	p.Pro20Leu	rs758340947	missense variant	-	NC_000006.12:g.107459227G>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Pro20ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.107459227G>-	NCI-TCGA
PDSS2	Q86YH6	p.Arg21Cys	rs778829222	missense variant	-	NC_000006.12:g.107459225G>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Trp25Leu	rs756982773	missense variant	-	NC_000006.12:g.107459212C>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Ser26Ala	rs1356132916	missense variant	-	NC_000006.12:g.107459210A>C	TOPMed
PDSS2	Q86YH6	p.Ser26Phe	rs556257343	missense variant	-	NC_000006.12:g.107459209G>A	1000Genomes,ExAC,gnomAD
PDSS2	Q86YH6	p.Pro27Ser	rs755671694	missense variant	-	NC_000006.12:g.107459207G>A	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Pro27Leu	rs1391435665	missense variant	-	NC_000006.12:g.107459206G>A	gnomAD
PDSS2	Q86YH6	p.Pro27Arg	rs1391435665	missense variant	-	NC_000006.12:g.107459206G>C	gnomAD
PDSS2	Q86YH6	p.Pro27Ser	RCV000197738	missense variant	-	NC_000006.12:g.107459207G>A	ClinVar
PDSS2	Q86YH6	p.Leu29Phe	rs768018344	missense variant	-	NC_000006.12:g.107459201G>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Ile32Leu	rs1170746623	missense variant	-	NC_000006.12:g.107459192T>G	gnomAD
PDSS2	Q86YH6	p.Ser33Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107459188G>T	NCI-TCGA
PDSS2	Q86YH6	p.Ser34Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107459185G>A	NCI-TCGA
PDSS2	Q86YH6	p.Val35Ala	COSM3857287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107459182A>G	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Trp38Gly	rs1251256664	missense variant	-	NC_000006.12:g.107459174A>C	TOPMed
PDSS2	Q86YH6	p.Arg41Trp	rs1438668614	missense variant	-	NC_000006.12:g.107459165G>A	gnomAD
PDSS2	Q86YH6	p.Ser42Phe	rs763187675	missense variant	-	NC_000006.12:g.107459161G>A	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.His48Tyr	rs1485685749	missense variant	-	NC_000006.12:g.107459144G>A	TOPMed
PDSS2	Q86YH6	p.Asn50Tyr	rs1321758345	missense variant	-	NC_000006.12:g.107459138T>A	gnomAD
PDSS2	Q86YH6	p.Val52Ile	rs1282869756	missense variant	-	NC_000006.12:g.107459132C>T	gnomAD
PDSS2	Q86YH6	p.Val53Glu	rs1331477498	missense variant	-	NC_000006.12:g.107459128A>T	gnomAD
PDSS2	Q86YH6	p.Glu55Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107459123C>T	NCI-TCGA
PDSS2	Q86YH6	p.Glu55Asp	rs1266510844	missense variant	-	NC_000006.12:g.107459121C>G	gnomAD
PDSS2	Q86YH6	p.Glu55Gln	rs1389652025	missense variant	-	NC_000006.12:g.107459123C>G	TOPMed,gnomAD
PDSS2	Q86YH6	p.Ala56Thr	rs1399417724	missense variant	-	NC_000006.12:g.107459120C>T	gnomAD
PDSS2	Q86YH6	p.Glu57Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107459115C>A	NCI-TCGA
PDSS2	Q86YH6	p.Glu57Gly	rs1170961854	missense variant	-	NC_000006.12:g.107459116T>C	TOPMed
PDSS2	Q86YH6	p.Ile59Val	rs1331517785	missense variant	-	NC_000006.12:g.107459111T>C	gnomAD
PDSS2	Q86YH6	p.Val60Leu	rs776915681	missense variant	-	NC_000006.12:g.107459108C>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Pro63Leu	rs1171640220	missense variant	-	NC_000006.12:g.107459098G>A	gnomAD
PDSS2	Q86YH6	p.Ser65Cys	rs1427781794	missense variant	-	NC_000006.12:g.107459092G>C	TOPMed
PDSS2	Q86YH6	p.Ser65Pro	COSM3857285	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107459093A>G	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Met67Leu	rs140933061	missense variant	-	NC_000006.12:g.107459087T>G	ESP,TOPMed,gnomAD
PDSS2	Q86YH6	p.Met67Arg	rs1379758287	missense variant	-	NC_000006.12:g.107459086A>C	gnomAD
PDSS2	Q86YH6	p.Ser68Cys	rs768846122	missense variant	-	NC_000006.12:g.107459084T>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Arg70Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107459078G>C	NCI-TCGA
PDSS2	Q86YH6	p.Arg70Ser	COSM3776982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107459078G>T	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Cys71Tyr	rs745852734	missense variant	-	NC_000006.12:g.107459074C>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Ser74Arg	rs770795875	missense variant	-	NC_000006.12:g.107459066T>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Ser74Arg	rs748988428	missense variant	-	NC_000006.12:g.107459064G>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Asp75Asn	rs369079759	missense variant	-	NC_000006.12:g.107459063C>T	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser78Ile	rs1347368741	missense variant	-	NC_000006.12:g.107459053C>A	gnomAD
PDSS2	Q86YH6	p.Ser78Arg	rs1257581809	missense variant	-	NC_000006.12:g.107459052G>T	gnomAD
PDSS2	Q86YH6	p.Ile80Val	rs1465571083	missense variant	-	NC_000006.12:g.107459048T>C	TOPMed
PDSS2	Q86YH6	p.Ala81Thr	rs147287460	missense variant	-	NC_000006.12:g.107459045C>T	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ala81Val	rs1056936705	missense variant	-	NC_000006.12:g.107459044G>A	TOPMed
PDSS2	Q86YH6	p.Ala81Ser	rs147287460	missense variant	-	NC_000006.12:g.107459045C>A	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Met82Leu	rs1309897408	missense variant	-	NC_000006.12:g.107459042T>A	TOPMed,gnomAD
PDSS2	Q86YH6	p.Met82Val	rs1309897408	missense variant	-	NC_000006.12:g.107459042T>C	TOPMed,gnomAD
PDSS2	Q86YH6	p.Gln83His	rs1448811259	missense variant	-	NC_000006.12:g.107459037C>G	gnomAD
PDSS2	Q86YH6	p.Val84Ala	rs1379975466	missense variant	-	NC_000006.12:g.107459035A>G	TOPMed,gnomAD
PDSS2	Q86YH6	p.Val88Leu	rs545921648	missense variant	-	NC_000006.12:g.107459024C>A	1000Genomes,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Val88Leu	rs545921648	missense variant	-	NC_000006.12:g.107459024C>G	1000Genomes,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Gly89Val	rs1281622071	missense variant	-	NC_000006.12:g.107459020C>A	TOPMed
PDSS2	Q86YH6	p.His92Pro	rs143549737	missense variant	-	NC_000006.12:g.107459011T>G	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.His92Pro	RCV000199611	missense variant	-	NC_000006.12:g.107459011T>G	ClinVar
PDSS2	Q86YH6	p.Pro93Ser	rs143121266	missense variant	-	NC_000006.12:g.107459009G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Pro93Arg	rs768899441	missense variant	-	NC_000006.12:g.107459008G>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Pro93Thr	rs143121266	missense variant	-	NC_000006.12:g.107459009G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Pro93Ala	rs143121266	missense variant	-	NC_000006.12:g.107459009G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Leu94Val	rs1188295669	missense variant	-	NC_000006.12:g.107459006G>C	gnomAD
PDSS2	Q86YH6	p.Leu94Pro	rs201366565	missense variant	-	NC_000006.12:g.107459005A>G	1000Genomes,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Thr96Ile	rs770715952	missense variant	-	NC_000006.12:g.107458999G>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Ala98Val	rs749113501	missense variant	-	NC_000006.12:g.107458993G>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Arg99Lys	rs777497469	missense variant	-	NC_000006.12:g.107458990C>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Gly100Trp	rs1402453222	missense variant	-	NC_000006.12:g.107334331C>A	gnomAD
PDSS2	Q86YH6	p.Gly100Glu	rs1351097046	missense variant	-	NC_000006.12:g.107334330C>T	TOPMed
PDSS2	Q86YH6	p.His103Tyr	rs762858267	missense variant	-	NC_000006.12:g.107334322G>A	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.His103Pro	rs773167802	missense variant	-	NC_000006.12:g.107334321T>G	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser105Ile	rs1464295287	missense variant	-	NC_000006.12:g.107334315C>A	gnomAD
PDSS2	Q86YH6	p.Ser108Gly	rs769607747	missense variant	-	NC_000006.12:g.107334307T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Ser108Asn	rs144461244	missense variant	-	NC_000006.12:g.107334306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Leu109Phe	rs996847352	missense variant	-	NC_000006.12:g.107334304G>A	TOPMed
PDSS2	Q86YH6	p.Gln110Arg	rs776279846	missense variant	-	NC_000006.12:g.107334300T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Gly113Asp	rs746665680	missense variant	-	NC_000006.12:g.107334291C>T	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Gly113Ser	rs542264096	missense variant	-	NC_000006.12:g.107334292C>T	1000Genomes,ExAC,gnomAD
PDSS2	Q86YH6	p.Leu114Phe	rs1364929327	missense variant	-	NC_000006.12:g.107334287C>G	TOPMed
PDSS2	Q86YH6	p.Leu117Phe	COSM483236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107334280G>A	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Ile119Val	rs757900585	missense variant	-	NC_000006.12:g.107334274T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Ser120Ala	rs779525869	missense variant	-	NC_000006.12:g.107334271A>C	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser120Phe	rs1197453075	missense variant	-	NC_000006.12:g.107334270G>A	gnomAD
PDSS2	Q86YH6	p.Ala122Ser	COSM1071828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107334265C>A	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Ala123Val	RCV000196690	missense variant	-	NC_000006.12:g.107334261G>A	ClinVar
PDSS2	Q86YH6	p.Ala123Val	rs863224164	missense variant	-	NC_000006.12:g.107334261G>A	-
PDSS2	Q86YH6	p.Ser126Gly	rs200386735	missense variant	-	NC_000006.12:g.107334253T>C	1000Genomes,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser127Asn	rs1027214591	missense variant	-	NC_000006.12:g.107334249C>T	TOPMed
PDSS2	Q86YH6	p.Ser127Gly	rs1279712257	missense variant	-	NC_000006.12:g.107334250T>C	TOPMed,gnomAD
PDSS2	Q86YH6	p.Val128Met	RCV000395354	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107334247C>T	ClinVar
PDSS2	Q86YH6	p.Val128Met	rs201645466	missense variant	-	NC_000006.12:g.107334247C>T	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Asn129Thr	rs887340468	missense variant	-	NC_000006.12:g.107334243T>G	TOPMed,gnomAD
PDSS2	Q86YH6	p.Thr130Ser	rs149239689	missense variant	-	NC_000006.12:g.107334240G>C	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser131Leu	rs1309036027	missense variant	-	NC_000006.12:g.107334237G>A	TOPMed
PDSS2	Q86YH6	p.Cys132Tyr	rs1466198335	missense variant	-	NC_000006.12:g.107334234C>T	gnomAD
PDSS2	Q86YH6	p.Asn134Ser	rs1432782767	missense variant	-	NC_000006.12:g.107334228T>C	gnomAD
PDSS2	Q86YH6	p.Tyr135Cys	rs1424230904	missense variant	-	NC_000006.12:g.107334225T>C	gnomAD
PDSS2	Q86YH6	p.Asp136Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107334223C>T	NCI-TCGA
PDSS2	Q86YH6	p.Met137Val	rs762326948	missense variant	-	NC_000006.12:g.107334220T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Met137Thr	rs1036022746	missense variant	-	NC_000006.12:g.107334219A>G	TOPMed,gnomAD
PDSS2	Q86YH6	p.Met137Leu	rs762326948	missense variant	-	NC_000006.12:g.107334220T>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Met137Ile	rs1443139035	missense variant	-	NC_000006.12:g.107334218C>A	TOPMed,gnomAD
PDSS2	Q86YH6	p.Val138Ile	rs773153983	missense variant	-	NC_000006.12:g.107334217C>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Ser139Gly	RCV000356556	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107334214T>C	ClinVar
PDSS2	Q86YH6	p.Ser139Gly	rs886060929	missense variant	-	NC_000006.12:g.107334214T>C	TOPMed
PDSS2	Q86YH6	p.Gly140Arg	COSM6172236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107334211C>G	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Ile141Ser	rs1259381433	missense variant	-	NC_000006.12:g.107334207A>C	gnomAD
PDSS2	Q86YH6	p.Cys144Arg	rs1207608920	missense variant	-	NC_000006.12:g.107334199A>G	gnomAD
PDSS2	Q86YH6	p.Gln145Glu	rs1285708549	missense variant	-	NC_000006.12:g.107274226G>C	gnomAD
PDSS2	Q86YH6	p.Gln145Arg	rs1315716434	missense variant	-	NC_000006.12:g.107274225T>C	TOPMed
PDSS2	Q86YH6	p.Ser147Cys	rs1241536852	missense variant	-	NC_000006.12:g.107274220T>A	TOPMed,gnomAD
PDSS2	Q86YH6	p.Ala149Ser	rs1263277213	missense variant	-	NC_000006.12:g.107274214C>A	TOPMed
PDSS2	Q86YH6	p.Ala149Gly	rs1322174138	missense variant	-	NC_000006.12:g.107274213G>C	TOPMed
PDSS2	Q86YH6	p.Ala149Val	COSM3828725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107274213G>A	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Thr152Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107274205T>C	NCI-TCGA
PDSS2	Q86YH6	p.Thr152Met	rs138673517	missense variant	-	NC_000006.12:g.107274204G>A	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ile155Thr	rs150586626	missense variant	-	NC_000006.12:g.107274195A>G	ESP
PDSS2	Q86YH6	p.Ile157Ser	rs1304811981	missense variant	-	NC_000006.12:g.107274189A>C	gnomAD
PDSS2	Q86YH6	p.Ala158Val	rs763833615	missense variant	-	NC_000006.12:g.107274186G>A	ExAC
PDSS2	Q86YH6	p.Ala158Asp	rs763833615	missense variant	-	NC_000006.12:g.107274186G>T	ExAC
PDSS2	Q86YH6	p.Leu159Val	rs1398339031	missense variant	-	NC_000006.12:g.107274184G>C	gnomAD
PDSS2	Q86YH6	p.His162Tyr	rs1358413173	missense variant	-	NC_000006.12:g.107274175G>A	gnomAD
PDSS2	Q86YH6	p.His162Tyr	rs1358413173	missense variant	-	NC_000006.12:g.107274175G>A	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.His162Pro	rs1157801198	missense variant	-	NC_000006.12:g.107274174T>G	gnomAD
PDSS2	Q86YH6	p.Arg163His	rs142617068	missense variant	-	NC_000006.12:g.107274171C>T	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg163LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.107274171_107274172insTATCCAGA	NCI-TCGA
PDSS2	Q86YH6	p.Arg163Cys	rs760480466	missense variant	-	NC_000006.12:g.107274172G>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Arg163Cys	rs760480466	missense variant	-	NC_000006.12:g.107274172G>A	NCI-TCGA,NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Ile165Thr	RCV000723054	missense variant	-	NC_000006.12:g.107274165A>G	ClinVar
PDSS2	Q86YH6	p.Val166Ile	rs1162160483	missense variant	-	NC_000006.12:g.107274163C>T	gnomAD
PDSS2	Q86YH6	p.Asn167Ser	rs201218141	missense variant	-	NC_000006.12:g.107274159T>C	1000Genomes,ExAC,gnomAD
PDSS2	Q86YH6	p.Asn169Ser	rs759122148	missense variant	-	NC_000006.12:g.107274153T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Gln172Ter	rs1183270278	stop gained	-	NC_000006.12:g.107274145G>A	gnomAD
PDSS2	Q86YH6	p.Asp175Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107274136C>T	NCI-TCGA
PDSS2	Q86YH6	p.Asp175His	rs1217767868	missense variant	-	NC_000006.12:g.107274136C>G	TOPMed,gnomAD
PDSS2	Q86YH6	p.Gly176Arg	rs370960044	missense variant	-	NC_000006.12:g.107274133C>G	ESP,ExAC,gnomAD
PDSS2	Q86YH6	p.Leu178Val	rs549039940	missense variant	-	NC_000006.12:g.107274127G>C	1000Genomes,gnomAD
PDSS2	Q86YH6	p.Leu178Pro	rs778396444	missense variant	-	NC_000006.12:g.107274126A>G	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Lys179Thr	RCV000198557	missense variant	-	NC_000006.12:g.107274123T>G	ClinVar
PDSS2	Q86YH6	p.Lys179Thr	rs863224165	missense variant	-	NC_000006.12:g.107274123T>G	-
PDSS2	Q86YH6	p.Asp180Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107274120T>C	NCI-TCGA
PDSS2	Q86YH6	p.Asp180His	rs528977401	missense variant	-	NC_000006.12:g.107274121C>G	1000Genomes,ExAC,gnomAD
PDSS2	Q86YH6	p.Gln182Arg	rs138048025	missense variant	-	NC_000006.12:g.107274114T>C	ESP,ExAC,gnomAD
PDSS2	Q86YH6	p.Gln182Ter	rs1177375665	stop gained	-	NC_000006.12:g.107274115G>A	TOPMed
PDSS2	Q86YH6	p.Ile187Ser	rs766902097	missense variant	-	NC_000006.12:g.107274099A>C	TOPMed
PDSS2	Q86YH6	p.Ile189Val	rs201682968	missense variant	-	NC_000006.12:g.107274094T>C	1000Genomes,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ile189Leu	rs201682968	missense variant	-	NC_000006.12:g.107274094T>G	1000Genomes,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser191Asn	rs1386800330	missense variant	-	NC_000006.12:g.107274087C>T	gnomAD
PDSS2	Q86YH6	p.Gly192Glu	COSM4861103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107274084C>T	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Asp193Gly	rs1430600315	missense variant	-	NC_000006.12:g.107274081T>C	TOPMed
PDSS2	Q86YH6	p.Phe194Ile	rs1287513097	missense variant	-	NC_000006.12:g.107274079A>T	TOPMed
PDSS2	Q86YH6	p.Ala199Val	rs758439210	missense variant	-	NC_000006.12:g.107274063G>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Ala199Thr	COSM1071826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107274064C>T	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Asn201Ser	rs1476658817	missense variant	-	NC_000006.12:g.107274057T>C	TOPMed,gnomAD
PDSS2	Q86YH6	p.Gln207Arg	rs79101673	missense variant	-	NC_000006.12:g.107274039T>C	1000Genomes,gnomAD
PDSS2	Q86YH6	p.Asn208Asp	rs753806698	missense variant	-	NC_000006.12:g.107274037T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Asn208Ile	rs764045206	missense variant	-	NC_000006.12:g.107274036T>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Thr209Ala	rs1055698303	missense variant	-	NC_000006.12:g.107274034T>C	TOPMed,gnomAD
PDSS2	Q86YH6	p.Val211Ala	rs1486225731	missense variant	-	NC_000006.12:g.107245618A>G	TOPMed
PDSS2	Q86YH6	p.Val212SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.107245616_107245617insCTGACAGA	NCI-TCGA
PDSS2	Q86YH6	p.Val212Ala	rs762431733	missense variant	-	NC_000006.12:g.107245615A>G	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Glu213Gly	rs776970659	missense variant	-	NC_000006.12:g.107245612T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Ala216Pro	rs769038551	missense variant	-	NC_000006.12:g.107245604C>G	ExAC
PDSS2	Q86YH6	p.Asp221Asn	rs747327705	missense variant	-	NC_000006.12:g.107245589C>T	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Val223Ile	RCV000765862	missense variant	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107245583C>T	ClinVar
PDSS2	Q86YH6	p.Val223Ile	rs35555197	missense variant	-	NC_000006.12:g.107245583C>T	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Val223Gly	rs1331696389	missense variant	-	NC_000006.12:g.107245582A>C	gnomAD
PDSS2	Q86YH6	p.Val223Ile	RCV000311116	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107245583C>T	ClinVar
PDSS2	Q86YH6	p.Val223Ile	RCV000677022	missense variant	-	NC_000006.12:g.107245583C>T	ClinVar
PDSS2	Q86YH6	p.Val223Leu	COSM75899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107245583C>G	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Val226Ile	rs746073753	missense variant	-	NC_000006.12:g.107245574C>T	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Tyr227SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.107245569_107245570AT>-	NCI-TCGA
PDSS2	Q86YH6	p.Glu229Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107245565C>T	NCI-TCGA
PDSS2	Q86YH6	p.Asn230LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.107245560_107245561insT	NCI-TCGA
PDSS2	Q86YH6	p.Ser231Tyr	COSM1071825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107245558G>T	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Lys234Glu	RCV000200081	missense variant	-	NC_000006.12:g.107245550T>C	ClinVar
PDSS2	Q86YH6	p.Lys234Glu	rs372737420	missense variant	-	NC_000006.12:g.107245550T>C	ESP,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser236Arg	rs1469424820	missense variant	-	NC_000006.12:g.107212279T>G	gnomAD
PDSS2	Q86YH6	p.Ser236Thr	rs778379122	missense variant	-	NC_000006.12:g.107212278C>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Tyr237His	rs1288765674	missense variant	-	NC_000006.12:g.107212276A>G	TOPMed
PDSS2	Q86YH6	p.Ile238Thr	rs753221338	missense variant	-	NC_000006.12:g.107212272A>G	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Thr239Pro	rs886060924	missense variant	-	NC_000006.12:g.107212270T>G	-
PDSS2	Q86YH6	p.Thr239Pro	RCV000277000	missense variant	Coenzyme Q10 deficiency, primary	NC_000006.12:g.107212270T>G	ClinVar
PDSS2	Q86YH6	p.Asp240His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107212267C>G	NCI-TCGA
PDSS2	Q86YH6	p.Asp240Asn	rs1226575242	missense variant	-	NC_000006.12:g.107212267C>T	TOPMed
PDSS2	Q86YH6	p.Asp241Tyr	rs763590850	missense variant	-	NC_000006.12:g.107212264C>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Ile242Thr	rs761228243	missense variant	-	NC_000006.12:g.107212260A>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Ile242Phe	rs1304811391	missense variant	-	NC_000006.12:g.107212261T>A	gnomAD
PDSS2	Q86YH6	p.Gly243Arg	rs1330739230	missense variant	-	NC_000006.12:g.107212258C>T	gnomAD
PDSS2	Q86YH6	p.Ser245Leu	rs371061123	missense variant	-	NC_000006.12:g.107212251G>A	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Thr246Ile	rs148107195	missense variant	-	NC_000006.12:g.107212248G>A	ESP,ExAC,gnomAD
PDSS2	Q86YH6	p.Trp247Ser	rs1412561354	missense variant	-	NC_000006.12:g.107212245C>G	gnomAD
PDSS2	Q86YH6	p.Glu249Gly	rs1424125328	missense variant	-	NC_000006.12:g.107212239T>C	gnomAD
PDSS2	Q86YH6	p.Gln250Lys	rs1220224606	missense variant	-	NC_000006.12:g.107212237G>T	TOPMed
PDSS2	Q86YH6	p.Thr251Pro	rs1174221335	missense variant	-	NC_000006.12:g.107212234T>G	gnomAD
PDSS2	Q86YH6	p.Thr251Ala	rs1174221335	missense variant	-	NC_000006.12:g.107212234T>C	gnomAD
PDSS2	Q86YH6	p.His255Arg	rs1455513843	missense variant	-	NC_000006.12:g.107212221T>C	gnomAD
PDSS2	Q86YH6	p.Gly256Asp	rs770989579	missense variant	-	NC_000006.12:g.107212218C>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Lys261Thr	rs763229733	missense variant	-	NC_000006.12:g.107212203T>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Gln264His	rs1375704626	missense variant	-	NC_000006.12:g.107212193T>G	TOPMed
PDSS2	Q86YH6	p.Met267Thr	rs1207539530	missense variant	-	NC_000006.12:g.107212185A>G	gnomAD
PDSS2	Q86YH6	p.Met267Val	rs377517207	missense variant	-	NC_000006.12:g.107212186T>C	ESP,ExAC,gnomAD
PDSS2	Q86YH6	p.Ala270Ser	rs143680679	missense variant	-	NC_000006.12:g.107212177C>A	ESP,ExAC,gnomAD
PDSS2	Q86YH6	p.Ala270Thr	rs143680679	missense variant	-	NC_000006.12:g.107212177C>T	ESP,ExAC,gnomAD
PDSS2	Q86YH6	p.His272Pro	COSM6104972	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107212170T>G	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Ala274Ser	rs780099323	missense variant	-	NC_000006.12:g.107212165C>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Glu275Val	rs771922053	missense variant	-	NC_000006.12:g.107212161T>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Gln277Arg	rs745590054	missense variant	-	NC_000006.12:g.107212155T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Gln277His	rs1308708966	missense variant	-	NC_000006.12:g.107212154C>G	gnomAD
PDSS2	Q86YH6	p.Asn278His	rs778633324	missense variant	-	NC_000006.12:g.107212153T>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Asn278Ser	rs756929322	missense variant	-	NC_000006.12:g.107212152T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Met279Ile	rs753476156	missense variant	-	NC_000006.12:g.107212148C>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Met279Thr	rs1301323756	missense variant	-	NC_000006.12:g.107212149A>G	gnomAD
PDSS2	Q86YH6	p.Ala280Thr	rs1183329109	missense variant	-	NC_000006.12:g.107212147C>T	TOPMed
PDSS2	Q86YH6	p.Tyr283Ter	rs777315112	stop gained	-	NC_000006.12:g.107212136A>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Lys285Arg	rs554066721	missense variant	-	NC_000006.12:g.107212131T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.His286Tyr	COSM1071823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107212129G>A	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Met287Thr	rs372795943	missense variant	-	NC_000006.12:g.107212125A>G	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Met287Leu	rs753238455	missense variant	-	NC_000006.12:g.107212126T>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Ala288Thr	rs759961328	missense variant	-	NC_000006.12:g.107212123C>T	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ala288Ser	rs759961328	missense variant	-	NC_000006.12:g.107212123C>A	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ala288Val	COSM1439548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107212122G>A	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Met289Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107212118C>G	NCI-TCGA
PDSS2	Q86YH6	p.Met289Val	rs751931690	missense variant	-	NC_000006.12:g.107212120T>C	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.His291Arg	rs766749567	missense variant	-	NC_000006.12:g.107212113T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Lys292Glu	rs863224167	missense variant	-	NC_000006.12:g.107212111T>C	-
PDSS2	Q86YH6	p.Lys292Glu	RCV000196261	missense variant	-	NC_000006.12:g.107212111T>C	ClinVar
PDSS2	Q86YH6	p.Asp296Glu	rs747602378	missense variant	-	NC_000006.12:g.107210559A>T	ExAC,TOPMed
PDSS2	Q86YH6	p.Val297Ala	rs780746304	missense variant	-	NC_000006.12:g.107210557A>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Pro299Thr	rs1262872037	missense variant	-	NC_000006.12:g.107210552G>T	TOPMed,gnomAD
PDSS2	Q86YH6	p.Pro299Arg	rs1187639482	missense variant	-	NC_000006.12:g.107210551G>C	gnomAD
PDSS2	Q86YH6	p.Phe300Leu	rs755494016	missense variant	-	NC_000006.12:g.107210549A>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Ile301Thr	rs766689872	missense variant	-	NC_000006.12:g.107210545A>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Ile301Val	rs752079360	missense variant	-	NC_000006.12:g.107210546T>C	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Lys302Ile	rs1335485456	missense variant	-	NC_000006.12:g.107210542T>A	gnomAD
PDSS2	Q86YH6	p.Lys302Ile	rs1335485456	missense variant	-	NC_000006.12:g.107210542T>A	NCI-TCGA
PDSS2	Q86YH6	p.Glu303Gly	rs545787240	missense variant	-	NC_000006.12:g.107210539T>C	1000Genomes,ExAC,gnomAD
PDSS2	Q86YH6	p.Glu303Lys	COSM4898677	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107210540C>T	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Lys304Asn	rs965598437	missense variant	-	NC_000006.12:g.107210535C>A	gnomAD
PDSS2	Q86YH6	p.Lys304Arg	rs1216981711	missense variant	-	NC_000006.12:g.107210536T>C	gnomAD
PDSS2	Q86YH6	p.Thr305Ser	rs750695905	missense variant	-	NC_000006.12:g.107210533G>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Ser306Arg	rs765495507	missense variant	-	NC_000006.12:g.107210531T>G	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser306Gly	rs765495507	missense variant	-	NC_000006.12:g.107210531T>C	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Asp307Asn	rs1213284729	missense variant	-	NC_000006.12:g.107210528C>T	TOPMed
PDSS2	Q86YH6	p.Ser308Pro	rs761987770	missense variant	-	NC_000006.12:g.107210525A>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Met309Thr	rs1490595812	missense variant	-	NC_000006.12:g.107210521A>G	TOPMed
PDSS2	Q86YH6	p.Met309Val	rs1266854741	missense variant	-	NC_000006.12:g.107210522T>C	TOPMed
PDSS2	Q86YH6	p.Met309Ile	rs1291348169	missense variant	-	NC_000006.12:g.107210520C>A	TOPMed,gnomAD
PDSS2	Q86YH6	p.Met309Ile	COSM6104973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107210520C>G	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Phe311Ser	rs776919608	missense variant	-	NC_000006.12:g.107210515A>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Asn314Thr	rs148925842	missense variant	-	NC_000006.12:g.107210506T>G	ESP,ExAC,gnomAD
PDSS2	Q86YH6	p.Val318Ile	rs768353921	missense variant	-	NC_000006.12:g.107210495C>T	gnomAD
PDSS2	Q86YH6	p.Leu320Ser	rs1267319597	missense variant	-	NC_000006.12:g.107210488A>G	TOPMed
PDSS2	Q86YH6	p.Gln322Ter	RCV000001259	nonsense	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107210483G>A	ClinVar
PDSS2	Q86YH6	p.Gln322Glu	rs118203955	missense variant	Coenzyme q10 deficiency, primary, 3 (coq10d3)	NC_000006.12:g.107210483G>C	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Gln322Ter	rs118203955	stop gained	Coenzyme q10 deficiency, primary, 3 (coq10d3)	NC_000006.12:g.107210483G>A	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Glu323Lys	rs267600756	missense variant	-	NC_000006.12:g.107210480C>T	gnomAD
PDSS2	Q86YH6	p.Leu325Pro	rs749037342	missense variant	-	NC_000006.12:g.107210473A>G	ExAC,gnomAD
PDSS2	Q86YH6	p.Leu325Ile	COSM1071822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.107210474G>T	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Asp328Tyr	rs1417419285	missense variant	-	NC_000006.12:g.107210465C>A	TOPMed
PDSS2	Q86YH6	p.Asp328His	rs1417419285	missense variant	-	NC_000006.12:g.107210465C>G	TOPMed
PDSS2	Q86YH6	p.Leu329Phe	rs769373709	missense variant	-	NC_000006.12:g.107210460C>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Gly335Ter	rs17853951	stop gained	-	NC_000006.12:g.107210444C>A	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Gly335Arg	rs17853951	missense variant	-	NC_000006.12:g.107210444C>T	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Glu336Gly	rs1308978291	missense variant	-	NC_000006.12:g.107210440T>C	gnomAD
PDSS2	Q86YH6	p.Glu336Lys	rs373085431	missense variant	-	NC_000006.12:g.107210441C>T	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Glu339Gly	rs1360606025	missense variant	-	NC_000006.12:g.107193847T>C	TOPMed
PDSS2	Q86YH6	p.Lys340Arg	rs368485073	missense variant	-	NC_000006.12:g.107193844T>C	ESP,gnomAD
PDSS2	Q86YH6	p.Lys340Glu	rs1245958495	missense variant	-	NC_000006.12:g.107193845T>C	TOPMed
PDSS2	Q86YH6	p.Leu348Phe	rs1219084549	missense variant	-	NC_000006.12:g.107154775C>A	TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg349Gln	RCV000195802	missense variant	-	NC_000006.12:g.107154773C>T	ClinVar
PDSS2	Q86YH6	p.Arg349Ter	rs370370070	stop gained	-	NC_000006.12:g.107154774G>A	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg349Gln	rs201388841	missense variant	-	NC_000006.12:g.107154773C>T	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg349Gly	rs370370070	missense variant	-	NC_000006.12:g.107154774G>C	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg349Ter	RCV000779483	nonsense	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107154774G>A	ClinVar
PDSS2	Q86YH6	p.Arg349Ter	rs370370070	stop gained	-	NC_000006.12:g.107154774G>A	NCI-TCGA
PDSS2	Q86YH6	p.Arg351Ter	COSM739766	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.107154768T>A	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Ala354Gly	rs782400799	missense variant	-	NC_000006.12:g.107154758G>C	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ala354Thr	rs782032930	missense variant	-	NC_000006.12:g.107154759C>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Lys356Arg	rs372585824	missense variant	-	NC_000006.12:g.107154752T>C	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Lys356Thr	rs372585824	missense variant	-	NC_000006.12:g.107154752T>G	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser360Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107154740G>A	NCI-TCGA
PDSS2	Q86YH6	p.Ile362Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.107154735T>C	NCI-TCGA
PDSS2	Q86YH6	p.Cys365Arg	rs1554245220	missense variant	-	NC_000006.12:g.107154726A>G	gnomAD
PDSS2	Q86YH6	p.Cys365Ter	rs782134711	stop gained	-	NC_000006.12:g.107154724_107154725insT	ExAC,gnomAD
PDSS2	Q86YH6	p.Arg366His	rs782590458	missense variant	-	NC_000006.12:g.107154722C>T	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg366Cys	rs370257390	missense variant	-	NC_000006.12:g.107154723G>A	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Tyr367Ter	COSM4928675	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.107154718G>C	NCI-TCGA Cosmic
PDSS2	Q86YH6	p.Asn370Asp	rs782454120	missense variant	-	NC_000006.12:g.107154711T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Ala372Ser	rs781908852	missense variant	-	NC_000006.12:g.107154705C>A	ExAC,gnomAD
PDSS2	Q86YH6	p.Glu374Ala	rs1442132012	missense variant	-	NC_000006.12:g.107154698T>G	TOPMed
PDSS2	Q86YH6	p.Ala375Thr	rs782488737	missense variant	-	NC_000006.12:g.107154696C>T	ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Leu376Pro	rs782503387	missense variant	-	NC_000006.12:g.107154692A>G	TOPMed,gnomAD
PDSS2	Q86YH6	p.Phe379Leu	rs1554245186	missense variant	-	NC_000006.12:g.107154684A>G	gnomAD
PDSS2	Q86YH6	p.Ser382Leu	RCV000001260	missense variant	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107154674G>A	ClinVar
PDSS2	Q86YH6	p.Ser382Leu	rs118203956	missense variant	Coenzyme q10 deficiency, primary, 3 (coq10d3)	NC_000006.12:g.107154674G>A	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ala384Val	rs1236270228	missense variant	-	NC_000006.12:g.107154668G>A	TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg385Thr	rs147723975	missense variant	-	NC_000006.12:g.107154665C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg385Lys	rs147723975	missense variant	-	NC_000006.12:g.107154665C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Ser386Cys	rs1554245162	missense variant	-	NC_000006.12:g.107154662G>C	gnomAD
PDSS2	Q86YH6	p.Ala387Thr	rs782380203	missense variant	-	NC_000006.12:g.107154660C>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Asn390Ser	rs782099223	missense variant	-	NC_000006.12:g.107154650T>C	ExAC,gnomAD
PDSS2	Q86YH6	p.Val395Met	rs781959710	missense variant	-	NC_000006.12:g.107154636C>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Thr396Asn	rs369868953	missense variant	-	NC_000006.12:g.107154632G>T	ESP,ExAC,TOPMed,gnomAD
PDSS2	Q86YH6	p.Arg397Ter	RCV000625943	frameshift	Coenzyme Q10 deficiency, primary, 3 (COQ10D3)	NC_000006.12:g.107154629_107154630del	ClinVar
PDSS2	Q86YH6	p.Arg397Gly	rs1384031310	missense variant	-	NC_000006.12:g.107154630T>C	TOPMed,gnomAD
PDSS2	Q86YH6	p.Phe398Tyr	rs782189106	missense variant	-	NC_000006.12:g.107154626A>T	ExAC,gnomAD
PDSS2	Q86YH6	p.Phe398Leu	rs74325037	missense variant	-	NC_000006.12:g.107154625A>C	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr2Ala	rs1402521824	missense variant	-	NC_000019.10:g.33064849T>C	gnomAD
RHPN2	Q8IUC4	p.Asp3Asn	rs766619741	missense variant	-	NC_000019.10:g.33064846C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala4Pro	rs1393531881	missense variant	-	NC_000019.10:g.33064843C>G	gnomAD
RHPN2	Q8IUC4	p.Ala8Val	rs1167853267	missense variant	-	NC_000019.10:g.33064830G>A	gnomAD
RHPN2	Q8IUC4	p.Ala9Val	rs945697019	missense variant	-	NC_000019.10:g.33064827G>A	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala9Thr	rs1467051470	missense variant	-	NC_000019.10:g.33064828C>T	gnomAD
RHPN2	Q8IUC4	p.Ala9Asp	rs945697019	missense variant	-	NC_000019.10:g.33064827G>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Pro10His	rs1386866915	missense variant	-	NC_000019.10:g.33064824G>T	TOPMed
RHPN2	Q8IUC4	p.Gln11Ter	rs760698706	stop gained	-	NC_000019.10:g.33064822G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln11Lys	rs760698706	missense variant	-	NC_000019.10:g.33064822G>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Pro12Thr	rs1252855583	missense variant	-	NC_000019.10:g.33064819G>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Pro12Gln	rs1184172670	missense variant	-	NC_000019.10:g.33064818G>T	gnomAD
RHPN2	Q8IUC4	p.Pro12Ala	rs1252855583	missense variant	-	NC_000019.10:g.33064819G>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu14Lys	rs1248222881	missense variant	-	NC_000019.10:g.33064813C>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu14Gln	rs1248222881	missense variant	-	NC_000019.10:g.33064813C>G	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asn17Lys	rs1345685342	missense variant	-	NC_000019.10:g.33064802G>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly19Cys	rs926832944	missense variant	-	NC_000019.10:g.33064798C>A	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly19Val	rs1221175986	missense variant	-	NC_000019.10:g.33064797C>A	gnomAD
RHPN2	Q8IUC4	p.Gly19Arg	rs926832944	missense variant	-	NC_000019.10:g.33064798C>G	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly19Ser	rs926832944	missense variant	-	NC_000019.10:g.33064798C>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Tyr20Ter	rs768517276	stop gained	-	NC_000019.10:g.33064793G>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Tyr20Cys	rs1288591753	missense variant	-	NC_000019.10:g.33064794T>C	gnomAD
RHPN2	Q8IUC4	p.Tyr20His	rs1322162297	missense variant	-	NC_000019.10:g.33064795A>G	gnomAD
RHPN2	Q8IUC4	p.Arg22Pro	rs1333604344	missense variant	-	NC_000019.10:g.33064788C>G	gnomAD
RHPN2	Q8IUC4	p.Lys23Thr	rs1297060271	missense variant	-	NC_000019.10:g.33064785T>G	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Cys25Tyr	rs1263813357	missense variant	-	NC_000019.10:g.33044360C>T	TOPMed
RHPN2	Q8IUC4	p.Asn26Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33044357T>G	NCI-TCGA
RHPN2	Q8IUC4	p.Pro27Ser	rs750714554	missense variant	-	NC_000019.10:g.33044355G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala29Thr	rs374008720	missense variant	-	NC_000019.10:g.33044349C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln30Lys	rs761988957	missense variant	-	NC_000019.10:g.33044346G>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gly32Ser	rs769804794	missense variant	-	NC_000019.10:g.33044340C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg33Trp	rs143022039	missense variant	-	NC_000019.10:g.33044337G>A	ESP,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg33Gln	rs776582819	missense variant	-	NC_000019.10:g.33044336C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg33Leu	rs776582819	missense variant	-	NC_000019.10:g.33044336C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg33Gln	rs776582819	missense variant	-	NC_000019.10:g.33044336C>T	NCI-TCGA
RHPN2	Q8IUC4	p.Ser34Cys	rs1290190560	missense variant	-	NC_000019.10:g.33044334T>A	gnomAD
RHPN2	Q8IUC4	p.Lys35Glu	COSM3970902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33044331T>C	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Gln37Ter	rs193052485	stop gained	-	NC_000019.10:g.33044325G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asn38His	rs746656887	missense variant	-	NC_000019.10:g.33044322T>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala41Pro	rs777610479	missense variant	-	NC_000019.10:g.33044313C>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala41Thr	rs777610479	missense variant	-	NC_000019.10:g.33044313C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala41Gly	rs771685886	missense variant	-	NC_000019.10:g.33044312G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ile47Val	rs747715669	missense variant	-	NC_000019.10:g.33044295T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala50Val	rs566515980	missense variant	-	NC_000019.10:g.33044285G>A	1000Genomes,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala50Gly	rs566515980	missense variant	-	NC_000019.10:g.33044285G>C	1000Genomes,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val51Met	rs780380894	missense variant	-	NC_000019.10:g.33044283C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val51Leu	rs780380894	missense variant	-	NC_000019.10:g.33044283C>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg52Gln	rs371759693	missense variant	-	NC_000019.10:g.33044279C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg52Trp	rs750608992	missense variant	-	NC_000019.10:g.33044280G>A	NCI-TCGA
RHPN2	Q8IUC4	p.Arg52Trp	rs750608992	missense variant	-	NC_000019.10:g.33044280G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr55Ile	rs757248354	missense variant	-	NC_000019.10:g.33044270G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Thr55Ala	rs1490751231	missense variant	-	NC_000019.10:g.33044271T>C	gnomAD
RHPN2	Q8IUC4	p.Gly56Arg	rs765029887	missense variant	-	NC_000019.10:g.33044268C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala57Val	rs530284964	missense variant	-	NC_000019.10:g.33044264G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala57Val	rs530284964	missense variant	-	NC_000019.10:g.33044264G>A	NCI-TCGA,NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Asn59Ser	rs1284077574	missense variant	-	NC_000019.10:g.33044258T>C	gnomAD
RHPN2	Q8IUC4	p.Asn59Asp	rs1339284608	missense variant	-	NC_000019.10:g.33044259T>C	gnomAD
RHPN2	Q8IUC4	p.Leu60Pro	rs1442475032	missense variant	-	NC_000019.10:g.33044255A>G	TOPMed
RHPN2	Q8IUC4	p.Lys62Arg	rs766246265	missense variant	-	NC_000019.10:g.33044249T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val63Leu	rs1439730979	missense variant	-	NC_000019.10:g.33026631C>G	gnomAD
RHPN2	Q8IUC4	p.Ala64Ser	rs1399491336	missense variant	-	NC_000019.10:g.33026628C>A	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala64Thr	rs1399491336	missense variant	-	NC_000019.10:g.33026628C>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asn66Asp	rs781328826	missense variant	-	NC_000019.10:g.33026622T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ser67Pro	rs1470674201	missense variant	-	NC_000019.10:g.33026619A>G	gnomAD
RHPN2	Q8IUC4	p.Val69Leu	rs757517763	missense variant	-	NC_000019.10:g.33026613C>A	ExAC
RHPN2	Q8IUC4	p.Arg70Gln	rs28626308	missense variant	-	NC_000019.10:g.33026609C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg70Trp	rs751789809	missense variant	-	NC_000019.10:g.33026610G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg70Gly	rs751789809	missense variant	-	NC_000019.10:g.33026610G>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val73Met	rs758448454	missense variant	-	NC_000019.10:g.33026601C>T	ExAC
RHPN2	Q8IUC4	p.Arg74Trp	rs753804504	missense variant	-	NC_000019.10:g.33026598G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg74Gln	rs766442171	missense variant	-	NC_000019.10:g.33026597C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu76Gly	rs1206061717	missense variant	-	NC_000019.10:g.33026591T>C	gnomAD
RHPN2	Q8IUC4	p.Phe79Leu	rs760505643	missense variant	-	NC_000019.10:g.33026581G>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val80Ala	rs200757641	missense variant	-	NC_000019.10:g.33026579A>G	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val80Leu	rs773144206	missense variant	-	NC_000019.10:g.33026580C>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val80Ile	rs773144206	missense variant	-	NC_000019.10:g.33026580C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asn81Ser	rs910999633	missense variant	-	NC_000019.10:g.33026576T>C	TOPMed
RHPN2	Q8IUC4	p.Ser82Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33026574A>T	NCI-TCGA
RHPN2	Q8IUC4	p.Asp83Ala	rs761510869	missense variant	-	NC_000019.10:g.33026570T>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gln85Ter	rs1221894627	stop gained	-	NC_000019.10:g.33026565G>A	gnomAD
RHPN2	Q8IUC4	p.Glu89Lys	rs1215222866	missense variant	-	NC_000019.10:g.33026553C>T	gnomAD
RHPN2	Q8IUC4	p.Glu90Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33026548C>G	NCI-TCGA
RHPN2	Q8IUC4	p.Glu92Lys	rs1220002236	missense variant	-	NC_000019.10:g.33026544C>T	TOPMed
RHPN2	Q8IUC4	p.Glu92Gln	rs1220002236	missense variant	-	NC_000019.10:g.33026544C>G	TOPMed
RHPN2	Q8IUC4	p.Gly93Val	rs770294209	missense variant	-	NC_000019.10:g.33026540C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gly93Trp	rs144047918	missense variant	-	NC_000019.10:g.33026541C>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly93Arg	rs144047918	missense variant	-	NC_000019.10:g.33026541C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ile96Val	rs1156441249	missense variant	-	NC_000019.10:g.33026532T>C	gnomAD
RHPN2	Q8IUC4	p.Ile96Thr	rs1418865444	missense variant	-	NC_000019.10:g.33026531A>G	gnomAD
RHPN2	Q8IUC4	p.Ser97Leu	rs746177479	missense variant	-	NC_000019.10:g.33026528G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gly99Val	rs747224296	missense variant	-	NC_000019.10:g.33026522C>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly99Ser	rs1243047719	missense variant	-	NC_000019.10:g.33026523C>T	gnomAD
RHPN2	Q8IUC4	p.Gly99Asp	rs747224296	missense variant	-	NC_000019.10:g.33026522C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val100Ile	rs370875204	missense variant	-	NC_000019.10:g.33026520C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val100Ala	rs1176513172	missense variant	-	NC_000019.10:g.33026519A>G	TOPMed
RHPN2	Q8IUC4	p.Tyr101Asn	rs752854983	missense variant	-	NC_000019.10:g.33026517A>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gln102His	rs1386748314	missense variant	-	NC_000019.10:g.33026512C>A	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln102Arg	rs1360418355	missense variant	-	NC_000019.10:g.33026513T>C	gnomAD
RHPN2	Q8IUC4	p.Gln102Ter	rs1443457738	stop gained	-	NC_000019.10:g.33026514G>A	gnomAD
RHPN2	Q8IUC4	p.Gln102Glu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33026514G>C	NCI-TCGA
RHPN2	Q8IUC4	p.Asn103Tyr	rs1391897225	missense variant	-	NC_000019.10:g.33026511T>A	TOPMed
RHPN2	Q8IUC4	p.Asn103Lys	rs988692757	missense variant	-	NC_000019.10:g.33026509G>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asn103Ser	rs780069980	missense variant	-	NC_000019.10:g.33026510T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Thr104Ile	rs1173930435	missense variant	-	NC_000019.10:g.33026507G>A	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr104Lys	rs1173930435	missense variant	-	NC_000019.10:g.33026507G>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu106Val	rs1390398014	missense variant	-	NC_000019.10:g.33021644T>A	gnomAD
RHPN2	Q8IUC4	p.Ala107Glu	rs1238200730	missense variant	-	NC_000019.10:g.33021641G>T	TOPMed
RHPN2	Q8IUC4	p.Ala107Thr	rs759098209	missense variant	-	NC_000019.10:g.33021642C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Thr109Met	rs777147380	missense variant	-	NC_000019.10:g.33021635G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Pro111Leu	rs1378475032	missense variant	-	NC_000019.10:g.33021629G>A	TOPMed
RHPN2	Q8IUC4	p.Pro111Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33021630G>A	NCI-TCGA
RHPN2	Q8IUC4	p.Leu112Val	rs1431759687	missense variant	-	NC_000019.10:g.33021627G>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Pro114Leu	rs1449666202	missense variant	-	NC_000019.10:g.33021620G>A	gnomAD
RHPN2	Q8IUC4	p.Leu115Val	COSM4076745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33021618G>C	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Gly116Asp	rs772622165	missense variant	-	NC_000019.10:g.33021614C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Lys118Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33021607C>A	NCI-TCGA
RHPN2	Q8IUC4	p.Thr120Met	rs557556955	missense variant	-	NC_000019.10:g.33021602G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp122Gly	rs768831821	missense variant	-	NC_000019.10:g.33021596T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val123Phe	rs370764158	missense variant	-	NC_000019.10:g.33021594C>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val123Ile	rs370764158	missense variant	-	NC_000019.10:g.33021594C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val123Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33021593A>C	NCI-TCGA
RHPN2	Q8IUC4	p.Asp124Tyr	rs199832226	missense variant	-	NC_000019.10:g.33021591C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp124Asn	rs199832226	missense variant	-	NC_000019.10:g.33021591C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Phe125Leu	rs777541967	missense variant	-	NC_000019.10:g.33021586A>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val127Ile	rs150703957	missense variant	-	NC_000019.10:g.33021582C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val128Ile	rs752325119	missense variant	-	NC_000019.10:g.33021579C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu129Phe	COSM1325337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33021576G>A	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Ile133Val	rs1334281685	missense variant	-	NC_000019.10:g.33012718T>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ile133Met	COSM3989915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33012716G>C	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Glu135Gly	rs775421815	missense variant	-	NC_000019.10:g.33012711T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu135Gln	rs1309189094	missense variant	-	NC_000019.10:g.33012712C>G	gnomAD
RHPN2	Q8IUC4	p.His136Tyr	rs1408902346	missense variant	-	NC_000019.10:g.33012709G>A	gnomAD
RHPN2	Q8IUC4	p.Tyr142Cys	rs373544803	missense variant	-	NC_000019.10:g.33012690T>C	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Leu143Val	COSM994662	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33012688A>C	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Leu143Phe	rs746891591	missense variant	-	NC_000019.10:g.33012686T>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu145Lys	rs1160449875	missense variant	-	NC_000019.10:g.33012682C>T	gnomAD
RHPN2	Q8IUC4	p.Asp146Gly	rs777739997	missense variant	-	NC_000019.10:g.33012678T>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp146Tyr	rs1455168318	missense variant	-	NC_000019.10:g.33012679C>A	gnomAD
RHPN2	Q8IUC4	p.Asp146Asn	rs1455168318	missense variant	-	NC_000019.10:g.33012679C>T	gnomAD
RHPN2	Q8IUC4	p.Asp146His	COSM6084612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33012679C>G	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Asp146Val	rs777739997	missense variant	-	NC_000019.10:g.33012678T>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp146Glu	rs747970195	missense variant	-	NC_000019.10:g.33012677A>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu147Lys	rs1281706242	missense variant	-	NC_000019.10:g.33012676C>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu147Ter	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33012676C>A	NCI-TCGA
RHPN2	Q8IUC4	p.Asp150Val	rs778470982	missense variant	-	NC_000019.10:g.33012666T>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Asp150Tyr	rs1282773373	missense variant	-	NC_000019.10:g.33012667C>A	TOPMed
RHPN2	Q8IUC4	p.Met152Val	rs541322468	missense variant	-	NC_000019.10:g.33012661T>C	1000Genomes,ExAC
RHPN2	Q8IUC4	p.Met152Thr	rs753584585	missense variant	-	NC_000019.10:g.33012660A>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Asp153Asn	rs1184801632	missense variant	-	NC_000019.10:g.33012658C>T	gnomAD
RHPN2	Q8IUC4	p.Ala157Ser	rs749982365	missense variant	-	NC_000019.10:g.33011803C>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala157Thr	rs749982365	missense variant	-	NC_000019.10:g.33011803C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala157Pro	rs749982365	missense variant	-	NC_000019.10:g.33011803C>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Cys158Tyr	rs781734711	missense variant	-	NC_000019.10:g.33011799C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg159Trp	rs372301058	missense variant	-	NC_000019.10:g.33011797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg159Leu	rs368366746	missense variant	-	NC_000019.10:g.33011796C>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg159Gly	rs372301058	missense variant	-	NC_000019.10:g.33011797G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg159Gln	rs368366746	missense variant	-	NC_000019.10:g.33011796C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr160Lys	rs373249916	missense variant	-	NC_000019.10:g.33011793G>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr160Met	rs373249916	missense variant	-	NC_000019.10:g.33011793G>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg163Trp	rs759547845	missense variant	-	NC_000019.10:g.33011785G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg163Gln	rs776705740	missense variant	-	NC_000019.10:g.33011784C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly167Arg	rs774310628	missense variant	-	NC_000019.10:g.33011773C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val168Met	rs1490735361	missense variant	-	NC_000019.10:g.33011770C>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val168Leu	rs1490735361	missense variant	-	NC_000019.10:g.33011770C>A	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met172Leu	rs1245414137	missense variant	-	NC_000019.10:g.33011758T>A	gnomAD
RHPN2	Q8IUC4	p.Phe175Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33011747G>T	NCI-TCGA
RHPN2	Q8IUC4	p.Ile176Thr	rs1438952952	missense variant	-	NC_000019.10:g.33011745A>G	gnomAD
RHPN2	Q8IUC4	p.Gly179Ser	COSM994660	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33011737C>T	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Glu182Lys	rs779530907	missense variant	-	NC_000019.10:g.33011728C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ser183Gly	rs1284176267	missense variant	-	NC_000019.10:g.33011725T>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg184Ter	rs745316274	stop gained	-	NC_000019.10:g.33011722G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg184Gly	rs745316274	missense variant	-	NC_000019.10:g.33011722G>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg184Gln	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33011721C>T	NCI-TCGA
RHPN2	Q8IUC4	p.Phe186Ile	rs1272899374	missense variant	-	NC_000019.10:g.33011716A>T	gnomAD
RHPN2	Q8IUC4	p.Phe186Tyr	rs540549805	missense variant	-	NC_000019.10:g.33011715A>T	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Phe186Ser	rs540549805	missense variant	-	NC_000019.10:g.33011715A>G	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg190Pro	rs370371186	missense variant	-	NC_000019.10:g.33011703C>G	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg190Trp	rs752092520	missense variant	-	NC_000019.10:g.33011704G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg190Gln	rs370371186	missense variant	-	NC_000019.10:g.33011703C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met192Arg	rs753111541	missense variant	-	NC_000019.10:g.33011697A>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly193Arg	rs765319907	missense variant	-	NC_000019.10:g.33011695C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu194Arg	rs974975832	missense variant	-	NC_000019.10:g.33011691A>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Leu194ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.33011691A>-	NCI-TCGA
RHPN2	Q8IUC4	p.Leu195Pro	rs1366358620	missense variant	-	NC_000019.10:g.33011688A>G	gnomAD
RHPN2	Q8IUC4	p.Phe196Leu	rs966303893	missense variant	-	NC_000019.10:g.33011686A>G	TOPMed
RHPN2	Q8IUC4	p.Ser201Phe	rs1482280105	missense variant	-	NC_000019.10:g.33008172G>A	gnomAD
RHPN2	Q8IUC4	p.Thr203Ser	rs1482359542	missense variant	-	NC_000019.10:g.33008166G>C	gnomAD
RHPN2	Q8IUC4	p.Gly204Arg	rs1216849666	missense variant	-	NC_000019.10:g.33008164C>T	gnomAD
RHPN2	Q8IUC4	p.Gly204Val	rs1318955852	missense variant	-	NC_000019.10:g.33008163C>A	gnomAD
RHPN2	Q8IUC4	p.Pro206Leu	rs766609551	missense variant	-	NC_000019.10:g.33008157G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln210Ter	rs1315593229	stop gained	-	NC_000019.10:g.33008146G>A	gnomAD
RHPN2	Q8IUC4	p.Asn211His	rs1397269949	missense variant	-	NC_000019.10:g.33008143T>G	gnomAD
RHPN2	Q8IUC4	p.Leu212Val	rs1376268624	missense variant	-	NC_000019.10:g.33008140G>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Leu213Val	rs956612101	missense variant	-	NC_000019.10:g.33008137G>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Lys216Asn	rs762931353	missense variant	-	NC_000019.10:g.33008126C>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala217Val	COSM994658	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33008124G>A	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Ser218Cys	rs577697788	missense variant	-	NC_000019.10:g.33008122T>A	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Phe221Leu	COSM4076744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33008113A>G	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Asn222Tyr	COSM994657	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33008110T>A	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Thr223Ser	rs765104577	missense variant	-	NC_000019.10:g.33008106G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gly224Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33008103C>A	NCI-TCGA
RHPN2	Q8IUC4	p.Leu226Phe	rs776386474	missense variant	-	NC_000019.10:g.33008098G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Thr228Ile	rs770712790	missense variant	-	NC_000019.10:g.33008091G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ile230Thr	rs143129937	missense variant	-	NC_000019.10:g.33008085A>G	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ile230Val	rs1487002081	missense variant	-	NC_000019.10:g.33008086T>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr232Ile	rs769894495	missense variant	-	NC_000019.10:g.33008079G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr232Pro	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33008080T>G	NCI-TCGA
RHPN2	Q8IUC4	p.Arg233Trp	rs557723953	missense variant	-	NC_000019.10:g.33008077G>A	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg233Gly	rs557723953	missense variant	-	NC_000019.10:g.33008077G>C	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Asp235Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33008071C>T	NCI-TCGA
RHPN2	Q8IUC4	p.Arg236Trp	rs749683587	missense variant	-	NC_000019.10:g.33008068G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg236Gln	rs780179613	missense variant	-	NC_000019.10:g.33008067C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Thr238Met	rs142413151	missense variant	-	NC_000019.10:g.33008061G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly241Glu	rs1366644308	missense variant	-	NC_000019.10:g.33008052C>T	gnomAD
RHPN2	Q8IUC4	p.Gly241Trp	rs1399795717	missense variant	-	NC_000019.10:g.33008053C>A	gnomAD
RHPN2	Q8IUC4	p.Leu242Pro	rs1230345649	missense variant	-	NC_000019.10:g.33008049A>G	TOPMed
RHPN2	Q8IUC4	p.Ile246Leu	rs570243378	missense variant	-	NC_000019.10:g.33008038T>G	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Ile246Thr	rs138643075	missense variant	-	NC_000019.10:g.33008037A>G	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg251Lys	rs759341920	missense variant	-	NC_000019.10:g.33008022C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala252Ser	COSM4921432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33008020C>A	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Ala253Thr	rs766335784	missense variant	-	NC_000019.10:g.33008017C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val255Ala	rs770150141	missense variant	-	NC_000019.10:g.33002997A>G	ExAC,TOPMed
RHPN2	Q8IUC4	p.Val255Ile	rs1441259720	missense variant	-	NC_000019.10:g.33002998C>T	gnomAD
RHPN2	Q8IUC4	p.Tyr258Asp	rs918159134	missense variant	-	NC_000019.10:g.33002989A>C	TOPMed
RHPN2	Q8IUC4	p.Thr262Lys	rs746251884	missense variant	-	NC_000019.10:g.33002976G>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Phe263Val	rs1170970876	missense variant	-	NC_000019.10:g.33002974A>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr264Ile	rs771075571	missense variant	-	NC_000019.10:g.33002970G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Thr266Ile	rs149589142	missense variant	-	NC_000019.10:g.33002964G>A	1000Genomes
RHPN2	Q8IUC4	p.Ser268Asn	rs777996820	missense variant	-	NC_000019.10:g.33002958C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ser268Arg	rs747294405	missense variant	-	NC_000019.10:g.33002959T>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp270Tyr	rs749216712	missense variant	-	NC_000019.10:g.33002953C>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp270Asn	rs749216712	missense variant	-	NC_000019.10:g.33002953C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met271Val	rs959667835	missense variant	-	NC_000019.10:g.33002950T>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met271Ile	rs144886888	missense variant	-	NC_000019.10:g.33002948C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met271Leu	rs959667835	missense variant	-	NC_000019.10:g.33002950T>A	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser272Ile	rs796648858	missense variant	-	NC_000019.10:g.33002946C>A	TOPMed
RHPN2	Q8IUC4	p.Ser272Cys	rs1434146749	missense variant	-	NC_000019.10:g.33002947T>A	TOPMed
RHPN2	Q8IUC4	p.Ser272Thr	rs796648858	missense variant	-	NC_000019.10:g.33002946C>G	TOPMed
RHPN2	Q8IUC4	p.Pro273Leu	rs140759652	missense variant	-	NC_000019.10:g.33002943G>A	ESP,gnomAD
RHPN2	Q8IUC4	p.Ala274Asp	COSM994655	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33002940G>T	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Met275Ile	rs137892450	missense variant	-	NC_000019.10:g.33002936C>T	ESP,ExAC,gnomAD
RHPN2	Q8IUC4	p.Met275Ile	rs137892450	missense variant	-	NC_000019.10:g.33002936C>A	ESP,ExAC,gnomAD
RHPN2	Q8IUC4	p.Val278Met	rs144820749	missense variant	-	NC_000019.10:g.33002929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val278Ala	rs756841869	missense variant	-	NC_000019.10:g.33002928A>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val280Ile	rs1342283750	missense variant	-	NC_000019.10:g.33002923C>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met282Lys	rs775937855	missense variant	-	NC_000019.10:g.33002916A>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met283Ile	rs765671127	missense variant	-	NC_000019.10:g.33002912C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gln286Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.33002905G>A	NCI-TCGA
RHPN2	Q8IUC4	p.Ala287Val	rs376832768	missense variant	-	NC_000019.10:g.33002901G>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu289Gln	rs1378415306	missense variant	-	NC_000019.10:g.33002896C>G	gnomAD
RHPN2	Q8IUC4	p.Ser290Asn	rs1277140382	missense variant	-	NC_000019.10:g.33002892C>T	TOPMed
RHPN2	Q8IUC4	p.Val291Met	rs747204786	missense variant	-	NC_000019.10:g.33002890C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu293Lys	rs772227567	missense variant	-	NC_000019.10:g.33002884C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu293Gln	rs772227567	missense variant	-	NC_000019.10:g.33002884C>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser296Ile	rs1247407297	missense variant	-	NC_000019.10:g.33002874C>A	TOPMed
RHPN2	Q8IUC4	p.Leu297Phe	rs151179227	missense variant	-	NC_000019.10:g.33002872G>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly299Glu	rs1219287190	missense variant	-	NC_000019.10:g.33002865C>T	gnomAD
RHPN2	Q8IUC4	p.Ile300Met	rs745872476	missense variant	-	NC_000019.10:g.33002861G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg301Gln	rs757081366	missense variant	-	NC_000019.10:g.33002859C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg301Leu	rs757081366	missense variant	-	NC_000019.10:g.33002859C>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg301Trp	rs780839982	missense variant	-	NC_000019.10:g.33002860G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asn302MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.33002858C>-	NCI-TCGA
RHPN2	Q8IUC4	p.Glu303Lys	rs751187574	missense variant	-	NC_000019.10:g.33002854C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu303Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33002852T>A	NCI-TCGA
RHPN2	Q8IUC4	p.Phe304Leu	COSM994654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33002849G>C	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Val308Gly	rs763770765	missense variant	-	NC_000019.10:g.33002838A>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val317Leu	rs1404259146	missense variant	-	NC_000019.10:g.33002403C>A	gnomAD
RHPN2	Q8IUC4	p.Val317Leu	rs1404259146	missense variant	-	NC_000019.10:g.33002403C>G	gnomAD
RHPN2	Q8IUC4	p.Gly318Arg	rs752461489	missense variant	-	NC_000019.10:g.33002400C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu319Asp	COSM4076743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33002395C>G	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Val320Phe	rs778256595	missense variant	-	NC_000019.10:g.33002394C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val320Asp	rs1463778085	missense variant	-	NC_000019.10:g.33002393A>T	gnomAD
RHPN2	Q8IUC4	p.Gln322Glu	rs754566343	missense variant	-	NC_000019.10:g.33002388G>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln323Ter	rs1307735751	stop gained	-	NC_000019.10:g.33002385G>A	TOPMed
RHPN2	Q8IUC4	p.His325Gln	rs200381045	missense variant	-	NC_000019.10:g.33002377G>C	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala326Thr	rs375651454	missense variant	-	NC_000019.10:g.33002376C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser329Asn	rs768051635	missense variant	-	NC_000019.10:g.33002366C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala331Val	rs762118544	missense variant	-	NC_000019.10:g.33002360G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala331Thr	rs1330561498	missense variant	-	NC_000019.10:g.33002361C>T	TOPMed
RHPN2	Q8IUC4	p.Pro332Leu	rs763112876	missense variant	-	NC_000019.10:g.33002357G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Pro332Arg	rs763112876	missense variant	-	NC_000019.10:g.33002357G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Lys334Glu	rs1349871934	missense variant	-	NC_000019.10:g.33002352T>C	TOPMed
RHPN2	Q8IUC4	p.Asn336Asp	rs1423701745	missense variant	-	NC_000019.10:g.33002346T>C	gnomAD
RHPN2	Q8IUC4	p.Asn336Thr	rs528401920	missense variant	-	NC_000019.10:g.33002345T>G	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Pro338Leu	COSM3532213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.33002339G>A	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Trp341Arg	rs777543844	missense variant	-	NC_000019.10:g.33002331A>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala342Gly	rs747735018	missense variant	-	NC_000019.10:g.33002327G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala342Pro	rs28407794	missense variant	-	NC_000019.10:g.33002328C>G	UniProt,dbSNP
RHPN2	Q8IUC4	p.Ala342Pro	VAR_061997	missense variant	-	NC_000019.10:g.33002328C>G	UniProt
RHPN2	Q8IUC4	p.Ala342Pro	rs28407794	missense variant	-	NC_000019.10:g.33002328C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala345Val	rs145677315	missense variant	-	NC_000019.10:g.33002318G>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala345Thr	rs1396944368	missense variant	-	NC_000019.10:g.33002319C>T	gnomAD
RHPN2	Q8IUC4	p.Cys346Arg	rs753391318	missense variant	-	NC_000019.10:g.33002316A>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Cys346Tyr	rs139839345	missense variant	-	NC_000019.10:g.33002315C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val347Leu	rs767959366	missense variant	-	NC_000019.10:g.33002313C>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val347Met	rs767959366	missense variant	-	NC_000019.10:g.33002313C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Lys348Asn	rs1475207788	missense variant	-	NC_000019.10:g.33002308C>A	gnomAD
RHPN2	Q8IUC4	p.Ala349Thr	rs1396509245	missense variant	-	NC_000019.10:g.33002307C>T	TOPMed
RHPN2	Q8IUC4	p.His350Gln	rs1172330882	missense variant	-	NC_000019.10:g.33002302G>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.His350Pro	rs1423586415	missense variant	-	NC_000019.10:g.33002303T>G	gnomAD
RHPN2	Q8IUC4	p.His351Gln	rs199978160	missense variant	-	NC_000019.10:g.33002299G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala353Gly	rs200623446	missense variant	-	NC_000019.10:g.33002294G>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala353Val	rs200623446	missense variant	-	NC_000019.10:g.33002294G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala353Thr	rs201601538	missense variant	-	NC_000019.10:g.33002295C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Leu355Pro	rs773184319	missense variant	-	NC_000019.10:g.33002288A>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala356Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33002285G>A	NCI-TCGA
RHPN2	Q8IUC4	p.His357Leu	rs193179333	missense variant	-	NC_000019.10:g.33002282T>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Thr360Ile	rs748008554	missense variant	-	NC_000019.10:g.33002273G>A	ExAC
RHPN2	Q8IUC4	p.Thr360Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.33002273G>C	NCI-TCGA
RHPN2	Q8IUC4	p.Ala361Val	rs556739232	missense variant	-	NC_000019.10:g.33002270G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ile362Ser	rs1349478773	missense variant	-	NC_000019.10:g.33002267A>C	gnomAD
RHPN2	Q8IUC4	p.Ile362Val	rs1354361757	missense variant	-	NC_000019.10:g.33002268T>C	gnomAD
RHPN2	Q8IUC4	p.Ile365Val	rs1443950653	missense variant	-	NC_000019.10:g.33002259T>C	gnomAD
RHPN2	Q8IUC4	p.Ile365Ser	rs1227297967	missense variant	-	NC_000019.10:g.33002258A>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp366Asn	rs1342574313	missense variant	-	NC_000019.10:g.33002256C>T	TOPMed
RHPN2	Q8IUC4	p.Gln368Glu	rs923072397	missense variant	-	NC_000019.10:g.33002250G>C	TOPMed
RHPN2	Q8IUC4	p.Gln368Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.33002250G>A	NCI-TCGA
RHPN2	Q8IUC4	p.Pro371Arg	rs778173161	missense variant	-	NC_000019.10:g.32999699G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gly372Val	rs1471699047	missense variant	-	NC_000019.10:g.32999696C>A	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly372Ala	rs1471699047	missense variant	-	NC_000019.10:g.32999696C>G	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr373Lys	rs531300983	missense variant	-	NC_000019.10:g.32999693G>T	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr373Met	rs531300983	missense variant	-	NC_000019.10:g.32999693G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp374Val	rs752868507	missense variant	-	NC_000019.10:g.32999690T>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Leu375Val	rs765475659	missense variant	-	NC_000019.10:g.32999688G>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.His377Tyr	rs562365127	missense variant	-	NC_000019.10:g.32999682G>A	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.His377Arg	rs1221319147	missense variant	-	NC_000019.10:g.32999681T>C	TOPMed
RHPN2	Q8IUC4	p.Gln378Glu	rs78615454	missense variant	-	NC_000019.10:g.32999679G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gln378Ter	rs78615454	stop gained	-	NC_000019.10:g.32999679G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu379Asp	rs766425590	missense variant	-	NC_000019.10:g.32999674C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu379Gln	rs1341956153	missense variant	-	NC_000019.10:g.32999676C>G	gnomAD
RHPN2	Q8IUC4	p.Glu379Lys	COSM3532211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32999676C>T	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Lys380Arg	rs1203223458	missense variant	-	NC_000019.10:g.32999672T>C	gnomAD
RHPN2	Q8IUC4	p.Cys381Phe	rs761804917	missense variant	-	NC_000019.10:g.32999669C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Cys381Tyr	rs761804917	missense variant	-	NC_000019.10:g.32999669C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ser383Tyr	rs774195600	missense variant	-	NC_000019.10:g.32999663G>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gln384Pro	rs74582927	missense variant	-	NC_000019.10:g.32999660T>G	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln384Arg	rs74582927	missense variant	-	NC_000019.10:g.32999660T>C	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln384Ter	rs1295740122	stop gained	-	NC_000019.10:g.32999661G>A	gnomAD
RHPN2	Q8IUC4	p.Leu385Ile	rs147870656	missense variant	-	NC_000019.10:g.32999658G>T	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Tyr386Cys	rs1171433811	missense variant	-	NC_000019.10:g.32999654T>C	gnomAD
RHPN2	Q8IUC4	p.Asp387Glu	rs376175559	missense variant	-	NC_000019.10:g.32999650G>T	ESP,ExAC,gnomAD
RHPN2	Q8IUC4	p.Asp387Asn	rs759323341	missense variant	-	NC_000019.10:g.32999652C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.His388Asn	rs1427636247	missense variant	-	NC_000019.10:g.32999649G>T	gnomAD
RHPN2	Q8IUC4	p.Met389Val	rs371462562	missense variant	-	NC_000019.10:g.32999646T>C	ESP,ExAC,gnomAD
RHPN2	Q8IUC4	p.Met389Lys	rs903210487	missense variant	-	NC_000019.10:g.32999645A>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met389Leu	rs371462562	missense variant	-	NC_000019.10:g.32999646T>A	ESP,ExAC,gnomAD
RHPN2	Q8IUC4	p.Gly392Glu	rs1272034443	missense variant	-	NC_000019.10:g.32999636C>T	gnomAD
RHPN2	Q8IUC4	p.Pro395His	rs1255689355	missense variant	-	NC_000019.10:g.32999627G>T	gnomAD
RHPN2	Q8IUC4	p.Pro395Thr	rs201197290	missense variant	-	NC_000019.10:g.32999628G>T	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu396Trp	rs772443432	missense variant	-	NC_000019.10:g.32999624A>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala397Asp	rs1332096370	missense variant	-	NC_000019.10:g.32999621G>T	gnomAD
RHPN2	Q8IUC4	p.Asp402Glu	rs754122731	missense variant	-	NC_000019.10:g.32999605A>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Asp402Val	rs755176874	missense variant	-	NC_000019.10:g.32999606T>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gln403Glu	rs201844789	missense variant	-	NC_000019.10:g.32999604G>C	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg405Cys	rs199630139	missense variant	-	NC_000019.10:g.32999598G>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg405His	rs1167499954	missense variant	-	NC_000019.10:g.32999597C>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg405Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.32999597C>A	NCI-TCGA
RHPN2	Q8IUC4	p.Arg406Ter	rs555014775	stop gained	-	NC_000019.10:g.32999595G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg406Gln	rs201438314	missense variant	-	NC_000019.10:g.32999594C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu408Met	rs1452558887	missense variant	-	NC_000019.10:g.32999589G>T	gnomAD
RHPN2	Q8IUC4	p.Arg414His	rs564794525	missense variant	-	NC_000019.10:g.32996205C>T	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg414Cys	rs201089375	missense variant	-	NC_000019.10:g.32996206G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg415Ile	COSM994652	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32996202C>A	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Arg415Lys	rs748050734	missense variant	-	NC_000019.10:g.32996202C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Met417Val	rs144652286	missense variant	-	NC_000019.10:g.32996197T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met417Lys	rs1000953898	missense variant	-	NC_000019.10:g.32996196A>T	TOPMed
RHPN2	Q8IUC4	p.His420Arg	rs1474675667	missense variant	-	NC_000019.10:g.32996187T>C	gnomAD
RHPN2	Q8IUC4	p.Glu421Ter	rs766256907	stop gained	-	NC_000019.10:g.32996185C>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu421Lys	rs766256907	missense variant	-	NC_000019.10:g.32996185C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser423Leu	rs1445796184	missense variant	-	NC_000019.10:g.32996178G>A	gnomAD
RHPN2	Q8IUC4	p.Val424Leu	rs766987678	missense variant	-	NC_000019.10:g.32996176C>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val424Leu	rs766987678	missense variant	-	NC_000019.10:g.32996176C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val424Ala	rs1358631193	missense variant	-	NC_000019.10:g.32996175A>G	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg425Trp	rs761330344	missense variant	-	NC_000019.10:g.32996173G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg425Gln	rs774798877	missense variant	-	NC_000019.10:g.32996172C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu426Asp	rs763318393	missense variant	-	NC_000019.10:g.32996168C>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu426Gly	rs1278629137	missense variant	-	NC_000019.10:g.32996169T>C	gnomAD
RHPN2	Q8IUC4	p.Glu426Lys	rs764588726	missense variant	-	NC_000019.10:g.32996170C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala427Val	rs139766778	missense variant	-	NC_000019.10:g.32996166G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala427Gly	rs139766778	missense variant	-	NC_000019.10:g.32996166G>C	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser428Asn	rs1405871614	missense variant	-	NC_000019.10:g.32996163C>T	gnomAD
RHPN2	Q8IUC4	p.Leu429Pro	rs747094381	missense variant	-	NC_000019.10:g.32996160A>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu429Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.32996161G>T	NCI-TCGA
RHPN2	Q8IUC4	p.Cys430Phe	rs370605415	missense variant	-	NC_000019.10:g.32996157C>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Leu433Pro	rs1056748763	missense variant	-	NC_000019.10:g.32996148A>G	TOPMed
RHPN2	Q8IUC4	p.Arg434Gln	rs749317155	missense variant	-	NC_000019.10:g.32996145C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg434Trp	rs141232995	missense variant	-	NC_000019.10:g.32996146G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ile436Thr	rs1200277520	missense variant	-	NC_000019.10:g.32996139A>G	gnomAD
RHPN2	Q8IUC4	p.Ile436Val	rs563135404	missense variant	-	NC_000019.10:g.32996140T>C	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Val438Glu	rs755982809	missense variant	-	NC_000019.10:g.32996133A>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gln440Arg	rs897511244	missense variant	-	NC_000019.10:g.32996127T>C	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln440His	rs1318907848	missense variant	-	NC_000019.10:g.32996126C>G	gnomAD
RHPN2	Q8IUC4	p.Lys441Asn	rs1216120694	missense variant	-	NC_000019.10:g.32996123C>G	gnomAD
RHPN2	Q8IUC4	p.Lys441Arg	rs767183861	missense variant	-	NC_000019.10:g.32996124T>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Cys444Tyr	rs751082956	missense variant	-	NC_000019.10:g.32996115C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala446Thr	rs148666860	missense variant	-	NC_000019.10:g.32996110C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln447Arg	rs577722327	missense variant	-	NC_000019.10:g.32996106T>C	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu448Ter	rs759977429	stop gained	-	NC_000019.10:g.32996104C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg449Ser	rs776930286	missense variant	-	NC_000019.10:g.32996101G>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg449His	rs771295262	missense variant	-	NC_000019.10:g.32996100C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg449Cys	rs776930286	missense variant	-	NC_000019.10:g.32996101G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg451Trp	rs761039358	missense variant	-	NC_000019.10:g.32996095G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg451Gln	rs374206352	missense variant	-	NC_000019.10:g.32996094C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr453Arg	rs535367908	missense variant	-	NC_000019.10:g.32996088G>C	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr453Met	rs535367908	missense variant	-	NC_000019.10:g.32996088G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr453IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.32996087_32996088CG>-	NCI-TCGA
RHPN2	Q8IUC4	p.Tyr454Asp	rs75351369	missense variant	-	NC_000019.10:g.32996086A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala455Thr	rs138153671	missense variant	-	NC_000019.10:g.32996083C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala455Val	rs756889007	missense variant	-	NC_000019.10:g.32996082G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gln456Glu	rs751277431	missense variant	-	NC_000019.10:g.32996080G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gln456Ter	rs751277431	stop gained	-	NC_000019.10:g.32996080G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.His457Arg	rs777127717	missense variant	-	NC_000019.10:g.32996076T>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.His457Leu	rs777127717	missense variant	-	NC_000019.10:g.32996076T>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln458Glu	rs757949541	missense variant	-	NC_000019.10:g.32996074G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu459Lys	rs1232947574	missense variant	-	NC_000019.10:g.32996071C>T	gnomAD
RHPN2	Q8IUC4	p.Glu460Asp	rs199887869	missense variant	-	NC_000019.10:g.32996066C>A	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Asp461Val	rs1299352899	missense variant	-	NC_000019.10:g.32996064T>A	gnomAD
RHPN2	Q8IUC4	p.Asp462Ala	COSM4076741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32996061T>G	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Asp468Asn	rs148084786	missense variant	-	NC_000019.10:g.32996044C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp468Tyr	rs148084786	missense variant	-	NC_000019.10:g.32996044C>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp468His	rs148084786	missense variant	-	NC_000019.10:g.32996044C>G	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala469Thr	rs760951199	missense variant	-	NC_000019.10:g.32996041C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser471Gly	rs148949148	missense variant	-	NC_000019.10:g.32996035T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln478Glu	rs772683149	missense variant	-	NC_000019.10:g.32994042G>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val480Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.32994035A>G	NCI-TCGA
RHPN2	Q8IUC4	p.Asp481Val	rs570680058	missense variant	-	NC_000019.10:g.32994032T>A	1000Genomes
RHPN2	Q8IUC4	p.Ile483Thr	rs1454071376	missense variant	-	NC_000019.10:g.32994026A>G	gnomAD
RHPN2	Q8IUC4	p.Phe487Leu	rs771746367	missense variant	-	NC_000019.10:g.32994013G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Phe487Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.32994013G>T	NCI-TCGA
RHPN2	Q8IUC4	p.Lys489Gln	rs1287574863	missense variant	-	NC_000019.10:g.32994009T>G	gnomAD
RHPN2	Q8IUC4	p.Val492Asp	rs1472728782	missense variant	-	NC_000019.10:g.32993999A>T	TOPMed
RHPN2	Q8IUC4	p.Thr493Met	rs547444410	missense variant	-	NC_000019.10:g.32993996G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Phe495Val	rs1460092097	missense variant	-	NC_000019.10:g.32993991A>C	gnomAD
RHPN2	Q8IUC4	p.Leu502Ser	rs1332085692	missense variant	-	NC_000019.10:g.32991962A>G	gnomAD
RHPN2	Q8IUC4	p.Ser503Pro	rs1393410312	missense variant	-	NC_000019.10:g.32991960A>G	gnomAD
RHPN2	Q8IUC4	p.Ser503Phe	rs201815431	missense variant	-	NC_000019.10:g.32991959G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val504Gly	rs1296274942	missense variant	-	NC_000019.10:g.32991956A>C	gnomAD
RHPN2	Q8IUC4	p.Ser506Leu	rs777977646	missense variant	-	NC_000019.10:g.32991950G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ala507Val	rs752762158	missense variant	-	NC_000019.10:g.32991947G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Asn508Lys	rs765370986	missense variant	-	NC_000019.10:g.32991943G>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Lys509Asn	rs1393998856	missense variant	-	NC_000019.10:g.32991940C>G	gnomAD
RHPN2	Q8IUC4	p.Arg510Trp	rs760633882	missense variant	-	NC_000019.10:g.32991939G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg510Gln	rs750379907	missense variant	-	NC_000019.10:g.32991938C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Trp511Cys	rs1247896704	missense variant	-	NC_000019.10:g.32991934C>A	gnomAD
RHPN2	Q8IUC4	p.Thr512Met	rs767297253	missense variant	-	NC_000019.10:g.32991932G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Pro514Ser	rs774078225	missense variant	-	NC_000019.10:g.32991927G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg515Gln	rs1347761451	missense variant	-	NC_000019.10:g.32991923C>T	gnomAD
RHPN2	Q8IUC4	p.Arg515Ter	rs768431881	stop gained	-	NC_000019.10:g.32991924G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg515Gly	COSM3532210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32991924G>C	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Arg515Leu	rs1347761451	missense variant	-	NC_000019.10:g.32991923C>A	gnomAD
RHPN2	Q8IUC4	p.Arg518His	rs1241227703	missense variant	-	NC_000019.10:g.32991914C>T	gnomAD
RHPN2	Q8IUC4	p.Arg518Gly	rs79314177	missense variant	-	NC_000019.10:g.32991915G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg518Cys	rs79314177	missense variant	-	NC_000019.10:g.32991915G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg518Cys	RCV000454783	missense variant	-	NC_000019.10:g.32991915G>A	ClinVar
RHPN2	Q8IUC4	p.Thr520Ala	rs1334212098	missense variant	-	NC_000019.10:g.32991909T>C	gnomAD
RHPN2	Q8IUC4	p.Gly524Glu	rs775135364	missense variant	-	NC_000019.10:g.32991896C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp525Asn	rs769469341	missense variant	-	NC_000019.10:g.32991894C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp525His	rs769469341	missense variant	-	NC_000019.10:g.32991894C>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Leu526Phe	rs781570610	missense variant	-	NC_000019.10:g.32991889C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Thr529Ser	rs796438522	missense variant	-	NC_000019.10:g.32991882T>A	gnomAD
RHPN2	Q8IUC4	p.Leu530Met	rs962706952	missense variant	-	NC_000019.10:g.32991879A>T	TOPMed
RHPN2	Q8IUC4	p.Leu530Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.32991878A>T	NCI-TCGA
RHPN2	Q8IUC4	p.Gly532Arg	rs1158644120	missense variant	-	NC_000019.10:g.32991873C>G	gnomAD
RHPN2	Q8IUC4	p.Ala534Val	rs1180723297	missense variant	-	NC_000019.10:g.32991866G>A	gnomAD
RHPN2	Q8IUC4	p.Ala534Thr	rs753950362	missense variant	-	NC_000019.10:g.32991867C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Pro535Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.32991864G>A	NCI-TCGA
RHPN2	Q8IUC4	p.Val536Ile	rs758618054	missense variant	-	NC_000019.10:g.32991861C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln537His	rs752960645	missense variant	-	NC_000019.10:g.32991856C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Asp542Asn	rs750332302	missense variant	-	NC_000019.10:g.32991843C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Pro543Leu	rs767358800	missense variant	-	NC_000019.10:g.32991839G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ser548Leu	rs370334049	missense variant	-	NC_000019.10:g.32991824G>A	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val549Met	rs1229584218	missense variant	-	NC_000019.10:g.32990669C>T	gnomAD
RHPN2	Q8IUC4	p.Ala550Thr	rs147095013	missense variant	-	NC_000019.10:g.32990666C>T	ESP,ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala552Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.32990660C>T	NCI-TCGA
RHPN2	Q8IUC4	p.Arg553Trp	rs183236318	missense variant	-	NC_000019.10:g.32990657G>A	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg553Gln	rs757134070	missense variant	-	NC_000019.10:g.32990656C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly555Arg	rs751585975	missense variant	-	NC_000019.10:g.32990651C>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Tyr557Phe	rs763957704	missense variant	-	NC_000019.10:g.32990644T>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Val559Ala	rs1420723980	missense variant	-	NC_000019.10:g.32990638A>G	gnomAD
RHPN2	Q8IUC4	p.Ile561Phe	rs1169988198	missense variant	-	NC_000019.10:g.32990633T>A	gnomAD
RHPN2	Q8IUC4	p.Thr570Arg	rs752356242	missense variant	-	NC_000019.10:g.32990605G>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr570Lys	rs752356242	missense variant	-	NC_000019.10:g.32990605G>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr570Met	rs752356242	missense variant	-	NC_000019.10:g.32990605G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Thr570Ala	rs1474727741	missense variant	-	NC_000019.10:g.32990606T>C	gnomAD
RHPN2	Q8IUC4	p.Leu571Gln	rs759291358	missense variant	-	NC_000019.10:g.32990602A>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu571Val	rs111491211	missense variant	-	NC_000019.10:g.32990603G>C	gnomAD
RHPN2	Q8IUC4	p.Ser572Asn	rs959998208	missense variant	-	NC_000019.10:g.32990599C>T	TOPMed
RHPN2	Q8IUC4	p.Glu573Lys	rs1395311474	missense variant	-	NC_000019.10:g.32990597C>T	TOPMed
RHPN2	Q8IUC4	p.Val574Leu	rs765955340	missense variant	-	NC_000019.10:g.32990594C>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Met575Thr	rs1026269140	missense variant	-	NC_000019.10:g.32990590A>G	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met575Val	rs557699614	missense variant	-	NC_000019.10:g.32990591T>C	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu578Pro	rs773734878	missense variant	-	NC_000019.10:g.32990581A>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser580Thr	rs774570477	missense variant	-	NC_000019.10:g.32990575C>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ser580Arg	rs748513747	missense variant	-	NC_000019.10:g.32990576T>G	ExAC
RHPN2	Q8IUC4	p.Phe581Leu	rs1307943124	missense variant	-	NC_000019.10:g.32990573A>G	TOPMed
RHPN2	Q8IUC4	p.Glu583Lys	rs141778903	missense variant	-	NC_000019.10:g.32990567C>T	1000Genomes,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp584Tyr	rs746894075	missense variant	-	NC_000019.10:g.32990564C>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp584Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.32990563T>C	NCI-TCGA
RHPN2	Q8IUC4	p.Glu585Val	rs1178055932	missense variant	-	NC_000019.10:g.32990560T>A	TOPMed
RHPN2	Q8IUC4	p.Glu585Lys	rs369196164	missense variant	-	NC_000019.10:g.32990561C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ile586Phe	rs765148895	missense variant	-	NC_000019.10:g.32990558T>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Glu587Lys	rs753578599	missense variant	-	NC_000019.10:g.32990555C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Glu587Gly	rs1375900139	missense variant	-	NC_000019.10:g.32990554T>C	TOPMed
RHPN2	Q8IUC4	p.Met588Ile	rs765760890	missense variant	-	NC_000019.10:g.32990550C>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Lys589Glu	rs1172968058	missense variant	-	NC_000019.10:g.32990549T>C	TOPMed
RHPN2	Q8IUC4	p.Val591Met	rs760214047	missense variant	-	NC_000019.10:g.32990543C>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ser592Arg	rs1407794927	missense variant	-	NC_000019.10:g.32990538G>T	TOPMed
RHPN2	Q8IUC4	p.Leu593Pro	rs373973646	missense variant	-	NC_000019.10:g.32990536A>G	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Leu593Phe	COSM994646	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32990537G>A	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Ser598Leu	rs577353395	missense variant	-	NC_000019.10:g.32990521G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser599Phe	rs762360968	missense variant	-	NC_000019.10:g.32990518G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.His601Arg	rs775507452	missense variant	-	NC_000019.10:g.32980255T>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.His601Tyr	rs763406408	missense variant	-	NC_000019.10:g.32980256G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Asn602Lys	rs776823238	missense variant	-	NC_000019.10:g.32980251A>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asn602Tyr	rs770128123	missense variant	-	NC_000019.10:g.32980253T>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Asn602Ser	rs759904545	missense variant	-	NC_000019.10:g.32980252T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Lys603Met	rs771185066	missense variant	-	NC_000019.10:g.32980249T>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ala605Thr	rs1476097047	missense variant	-	NC_000019.10:g.32980244C>T	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser608Pro	rs1255125353	missense variant	-	NC_000019.10:g.32980235A>G	gnomAD
RHPN2	Q8IUC4	p.Val609Leu	rs147967421	missense variant	-	NC_000019.10:g.32980232C>G	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val609Met	rs147967421	missense variant	-	NC_000019.10:g.32980232C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val609Leu	rs147967421	missense variant	-	NC_000019.10:g.32980232C>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Met611Leu	COSM1494317	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980226T>A	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Gln612His	rs749125558	missense variant	-	NC_000019.10:g.32980221C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Thr614Met	rs1464164297	missense variant	-	NC_000019.10:g.32980216G>A	gnomAD
RHPN2	Q8IUC4	p.Ser616Phe	rs780654993	missense variant	-	NC_000019.10:g.32980210G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Met617Val	rs756780863	missense variant	-	NC_000019.10:g.32980208T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Met617Leu	rs756780863	missense variant	-	NC_000019.10:g.32980208T>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Cys619Phe	rs764667518	missense variant	-	NC_000019.10:g.32980201C>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu620Val	rs1472123173	missense variant	-	NC_000019.10:g.32980199A>C	TOPMed
RHPN2	Q8IUC4	p.Leu620Ser	COSM4076739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980198A>G	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Asp626Asn	rs753102976	missense variant	-	NC_000019.10:g.32980181C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Asp626Glu	rs1434383672	missense variant	-	NC_000019.10:g.32980179G>C	gnomAD
RHPN2	Q8IUC4	p.Thr631Ser	rs1412416400	missense variant	-	NC_000019.10:g.32980165G>C	TOPMed
RHPN2	Q8IUC4	p.Lys632Gln	rs1335190590	missense variant	-	NC_000019.10:g.32980163T>G	TOPMed,gnomAD
RHPN2	Q8IUC4	p.Lys633Gln	rs759812870	missense variant	-	NC_000019.10:g.32980160T>G	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Lys633Glu	rs759812870	missense variant	-	NC_000019.10:g.32980160T>C	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Lys633Thr	COSM994644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980159T>G	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Lys633Asn	COSM3822668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980158T>G	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Ile634Asn	rs777017759	missense variant	-	NC_000019.10:g.32980156A>T	ExAC,gnomAD
RHPN2	Q8IUC4	p.Ile634Met	COSM6150583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980155G>C	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Ser635Cys	rs766529399	missense variant	-	NC_000019.10:g.32980153G>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Lys637Glu	rs760816662	missense variant	-	NC_000019.10:g.32980148T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu641Pro	rs1421485271	missense variant	-	NC_000019.10:g.32980135A>G	gnomAD
RHPN2	Q8IUC4	p.Trp643Ter	rs1450753266	stop gained	-	NC_000019.10:g.32980128C>T	TOPMed
RHPN2	Q8IUC4	p.Gly644Ser	rs1184269613	missense variant	-	NC_000019.10:g.32980127C>T	gnomAD
RHPN2	Q8IUC4	p.Gly644Asp	COSM4076738	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980126C>T	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Lys647Thr	rs774101683	missense variant	-	NC_000019.10:g.32980117T>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Lys647Arg	rs774101683	missense variant	-	NC_000019.10:g.32980117T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Arg649Thr	COSM994643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.32980111C>G	NCI-TCGA Cosmic
RHPN2	Q8IUC4	p.Gln650Glu	rs1215221299	missense variant	-	NC_000019.10:g.32980109G>C	gnomAD
RHPN2	Q8IUC4	p.Gln650Arg	rs1466842818	missense variant	-	NC_000019.10:g.32980108T>C	gnomAD
RHPN2	Q8IUC4	p.Ala653Val	rs775231988	missense variant	-	NC_000019.10:g.32980099G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser654Cys	rs535587255	missense variant	-	NC_000019.10:g.32980097T>A	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Ser654Arg	rs535587255	missense variant	-	NC_000019.10:g.32980097T>G	1000Genomes,ExAC,gnomAD
RHPN2	Q8IUC4	p.Leu656Phe	rs1228301889	missense variant	-	NC_000019.10:g.32980089C>G	gnomAD
RHPN2	Q8IUC4	p.Ser660Leu	rs780852824	missense variant	-	NC_000019.10:g.32980078G>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser660Pro	rs745473678	missense variant	-	NC_000019.10:g.32980079A>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Gly662Arg	rs145226250	missense variant	-	NC_000019.10:g.32980073C>G	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gly662Arg	rs145226250	missense variant	-	NC_000019.10:g.32980073C>T	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg665Trp	rs893699529	missense variant	-	NC_000019.10:g.32980064G>A	TOPMed
RHPN2	Q8IUC4	p.Arg665Gln	rs753308360	missense variant	-	NC_000019.10:g.32980063C>T	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Arg665Leu	rs753308360	missense variant	-	NC_000019.10:g.32980063C>A	ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Pro666Ser	rs1253718557	missense variant	-	NC_000019.10:g.32980061G>A	TOPMed
RHPN2	Q8IUC4	p.Gln667Glu	rs150014084	missense variant	-	NC_000019.10:g.32980058G>C	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Gln667Ter	rs150014084	stop gained	-	NC_000019.10:g.32980058G>A	ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Val668Phe	rs1166714813	missense variant	-	NC_000019.10:g.32980055C>A	gnomAD
RHPN2	Q8IUC4	p.Lys669Ter	rs755427385	stop gained	-	NC_000019.10:g.32980052T>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Lys670Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.32980048T>G	NCI-TCGA
RHPN2	Q8IUC4	p.Lys671Gln	rs766725366	missense variant	-	NC_000019.10:g.32980046T>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Pro673Ser	rs760868717	missense variant	-	NC_000019.10:g.32980040G>A	ExAC,gnomAD
RHPN2	Q8IUC4	p.Pro673Leu	rs1178155680	missense variant	-	NC_000019.10:g.32980039G>A	gnomAD
RHPN2	Q8IUC4	p.Ser674Phe	rs1249941976	missense variant	-	NC_000019.10:g.32980036G>A	gnomAD
RHPN2	Q8IUC4	p.Ser674Pro	rs1481859434	missense variant	-	NC_000019.10:g.32980037A>G	gnomAD
RHPN2	Q8IUC4	p.Pro675Leu	rs1370422698	missense variant	-	NC_000019.10:g.32980033G>A	TOPMed
RHPN2	Q8IUC4	p.Leu678Arg	rs762922941	missense variant	-	NC_000019.10:g.32980024A>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Asn680Ser	rs147541207	missense variant	-	NC_000019.10:g.32980018T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RHPN2	Q8IUC4	p.Ser681Leu	rs1308048021	missense variant	-	NC_000019.10:g.32980015G>A	gnomAD
RHPN2	Q8IUC4	p.Asp682Glu	rs1375312566	missense variant	-	NC_000019.10:g.32980011G>T	gnomAD
RHPN2	Q8IUC4	p.Ser683Gly	rs745665233	missense variant	-	NC_000019.10:g.32980010T>C	ExAC,gnomAD
RHPN2	Q8IUC4	p.Trp685Leu	rs142599475	missense variant	-	NC_000019.10:g.32980003C>A	ESP,TOPMed
RHPN2	Q8IUC4	p.Trp685Cys	rs1436262405	missense variant	-	NC_000019.10:g.32980002C>A	TOPMed
RHPN2	Q8IUC4	p.Tyr686His	rs776208310	missense variant	-	NC_000019.10:g.32980001A>G	ExAC,gnomAD
RHPN2	Q8IUC4	p.Tyr686Ter	rs1174984534	stop gained	-	NC_000019.10:g.32979999G>C	gnomAD
TPH2	Q8IWU9	p.Gln2Leu	rs779491967	missense variant	-	NC_000012.12:g.71938991A>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro3Leu	rs1327009569	missense variant	-	NC_000012.12:g.71938994C>T	gnomAD
TPH2	Q8IWU9	p.Pro3Ala	rs935519284	missense variant	-	NC_000012.12:g.71938993C>G	TOPMed
TPH2	Q8IWU9	p.Ala4Val	rs1335229408	missense variant	-	NC_000012.12:g.71938997C>T	gnomAD
TPH2	Q8IWU9	p.Met6Arg	rs1268134569	missense variant	-	NC_000012.12:g.71939003T>G	gnomAD
TPH2	Q8IWU9	p.Ser10Arg	rs746671781	missense variant	-	NC_000012.12:g.71939014A>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Ser10Gly	rs746671781	missense variant	-	NC_000012.12:g.71939014A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Lys11Asn	rs1290412128	missense variant	-	NC_000012.12:g.71939019A>C	TOPMed
TPH2	Q8IWU9	p.Tyr12His	rs1353440145	missense variant	-	NC_000012.12:g.71939020T>C	TOPMed,gnomAD
TPH2	Q8IWU9	p.Tyr12Cys	rs754630640	missense variant	-	NC_000012.12:g.71939021A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Trp13Gly	rs781518671	missense variant	-	NC_000012.12:g.71939023T>G	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Trp13Arg	rs781518671	missense variant	-	NC_000012.12:g.71939023T>C	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ala14Thr	COSM943299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71939026G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Arg15Trp	COSM695156	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71939029C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Gly17Val	rs770241310	missense variant	-	NC_000012.12:g.71939036G>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Phe18Leu	rs773710365	missense variant	-	NC_000012.12:g.71939038T>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Ser19Phe	rs749305687	missense variant	-	NC_000012.12:g.71939042C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Leu20Pro	rs1260254880	missense variant	-	NC_000012.12:g.71939045T>C	gnomAD
TPH2	Q8IWU9	p.Leu20Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71939044C>A	NCI-TCGA
TPH2	Q8IWU9	p.Asp21Glu	rs1474478805	missense variant	-	NC_000012.12:g.71939049T>G	gnomAD
TPH2	Q8IWU9	p.Ser22Leu	rs374275719	missense variant	-	NC_000012.12:g.71939051C>T	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ser22Pro	rs1187685830	missense variant	-	NC_000012.12:g.71939050T>C	gnomAD
TPH2	Q8IWU9	p.Ala23Ser	rs774359253	missense variant	-	NC_000012.12:g.71939053G>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Pro25Leu	rs150922091	missense variant	-	NC_000012.12:g.71939060C>T	ESP,ExAC,gnomAD
TPH2	Q8IWU9	p.Pro25Thr	rs759773095	missense variant	-	NC_000012.12:g.71939059C>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro25Ser	rs759773095	missense variant	-	NC_000012.12:g.71939059C>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu26Lys	rs1352119427	missense variant	-	NC_000012.12:g.71939062G>A	TOPMed
TPH2	Q8IWU9	p.Glu27Lys	rs1234735969	missense variant	-	NC_000012.12:g.71939065G>A	gnomAD
TPH2	Q8IWU9	p.His28Pro	rs761705753	missense variant	-	NC_000012.12:g.71939069A>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Gln29Glu	rs1373577543	missense variant	-	NC_000012.12:g.71939071C>G	TOPMed,gnomAD
TPH2	Q8IWU9	p.Gln29Ter	rs1373577543	stop gained	-	NC_000012.12:g.71939071C>T	TOPMed,gnomAD
TPH2	Q8IWU9	p.Leu30Gln	rs140690004	missense variant	-	NC_000012.12:g.71939075T>A	ESP,TOPMed,gnomAD
TPH2	Q8IWU9	p.Leu30Pro	rs140690004	missense variant	-	NC_000012.12:g.71939075T>C	ESP,TOPMed,gnomAD
TPH2	Q8IWU9	p.Gly32Asp	rs201958204	missense variant	-	NC_000012.12:g.71939081G>A	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ser34Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71939086T>A	NCI-TCGA
TPH2	Q8IWU9	p.Ser34Pro	rs762868327	missense variant	-	NC_000012.12:g.71939086T>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Leu36Val	rs34115267	missense variant	-	NC_000012.12:g.71941584C>G	UniProt,dbSNP
TPH2	Q8IWU9	p.Leu36Val	VAR_058939	missense variant	-	NC_000012.12:g.71941584C>G	UniProt
TPH2	Q8IWU9	p.Leu36Val	rs34115267	missense variant	-	NC_000012.12:g.71941584C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Leu36Pro	rs199775778	missense variant	-	NC_000012.12:g.71941585T>C	UniProt,dbSNP
TPH2	Q8IWU9	p.Leu36Pro	VAR_058938	missense variant	-	NC_000012.12:g.71941585T>C	UniProt
TPH2	Q8IWU9	p.Leu36Pro	rs199775778	missense variant	-	NC_000012.12:g.71941585T>C	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Leu36Arg	rs199775778	missense variant	-	NC_000012.12:g.71941585T>G	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Asn37Ser	rs778078313	missense variant	-	NC_000012.12:g.71941588A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Pro39Thr	rs1453842206	missense variant	-	NC_000012.12:g.71941593C>A	gnomAD
TPH2	Q8IWU9	p.Pro39Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71941594C>G	NCI-TCGA
TPH2	Q8IWU9	p.Ser41Tyr	rs78162420	missense variant	-	NC_000012.12:g.71941600C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ser41Tyr	rs78162420	missense variant	-	NC_000012.12:g.71941600C>A	UniProt,dbSNP
TPH2	Q8IWU9	p.Ser41Tyr	VAR_058940	missense variant	-	NC_000012.12:g.71941600C>A	UniProt
TPH2	Q8IWU9	p.Ser41Tyr	RCV000334080	missense variant	Tryptophan 5-monooxygenase deficiency	NC_000012.12:g.71941600C>A	ClinVar
TPH2	Q8IWU9	p.Gly42Arg	rs1315366155	missense variant	-	NC_000012.12:g.71941602G>C	TOPMed,gnomAD
TPH2	Q8IWU9	p.Gly42Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71941602G>T	NCI-TCGA
TPH2	Q8IWU9	p.Asp45Asn	rs1451451172	missense variant	-	NC_000012.12:g.71941611G>A	gnomAD
TPH2	Q8IWU9	p.Asp46Tyr	COSM1513190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71941614G>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Asp46Asn	rs1462726765	missense variant	-	NC_000012.12:g.71941614G>A	TOPMed
TPH2	Q8IWU9	p.Gly48Asp	rs1391163941	missense variant	-	NC_000012.12:g.71941621G>A	gnomAD
TPH2	Q8IWU9	p.Gly48Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71941620G>T	NCI-TCGA
TPH2	Q8IWU9	p.Asn49Ser	rs745903154	missense variant	-	NC_000012.12:g.71941624A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Lys50Ter	rs1323440710	stop gained	-	NC_000012.12:g.71941626A>T	gnomAD
TPH2	Q8IWU9	p.Gly51Arg	rs758541559	missense variant	-	NC_000012.12:g.71941629G>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Ser52Asn	COSM6073636	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71941633G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ser53Arg	rs146693226	missense variant	-	NC_000012.12:g.71941637C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg55His	rs769052606	missense variant	-	NC_000012.12:g.71941642G>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg55Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71941642G>T	NCI-TCGA
TPH2	Q8IWU9	p.Arg55Cys	rs75558144	missense variant	-	NC_000012.12:g.71941641C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg55Cys	rs75558144	missense variant	-	NC_000012.12:g.71941641C>T	UniProt,dbSNP
TPH2	Q8IWU9	p.Arg55Cys	VAR_058941	missense variant	-	NC_000012.12:g.71941641C>T	UniProt
TPH2	Q8IWU9	p.Ala57Val	rs1237519008	missense variant	-	NC_000012.12:g.71941648C>T	gnomAD
TPH2	Q8IWU9	p.Ala58Asp	rs773014428	missense variant	-	NC_000012.12:g.71941651C>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ala58Val	rs773014428	missense variant	-	NC_000012.12:g.71941651C>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu60Gln	COSM6073635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71941656G>C	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Glu60Gly	rs774167006	missense variant	-	NC_000012.12:g.71941657A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Ser61Arg	rs759525241	missense variant	-	NC_000012.12:g.71941661T>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Gly62Asp	rs1179340249	missense variant	-	NC_000012.12:g.71941663G>A	gnomAD
TPH2	Q8IWU9	p.Lys63Glu	rs775019366	missense variant	-	NC_000012.12:g.71941665A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Thr64Ile	rs373761659	missense variant	-	NC_000012.12:g.71941669C>T	ESP,ExAC,gnomAD
TPH2	Q8IWU9	p.Thr64Ala	rs1368874998	missense variant	-	NC_000012.12:g.71941668A>G	gnomAD
TPH2	Q8IWU9	p.Ala65Thr	rs557063960	missense variant	-	NC_000012.12:g.71941671G>A	1000Genomes,ExAC,gnomAD
TPH2	Q8IWU9	p.Phe68Leu	rs1393293419	missense variant	-	NC_000012.12:g.71941682C>G	gnomAD
TPH2	Q8IWU9	p.Lys71Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71941689A>G	NCI-TCGA
TPH2	Q8IWU9	p.Gly75Cys	rs1370524283	missense variant	-	NC_000012.12:g.71941701G>T	gnomAD
TPH2	Q8IWU9	p.Gly76Glu	COSM3465059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71941705G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Leu77PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.71941706_71941707insT	NCI-TCGA
TPH2	Q8IWU9	p.Val78Ile	rs200000346	missense variant	-	NC_000012.12:g.71941710G>A	1000Genomes,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Leu81Gln	rs747112638	missense variant	-	NC_000012.12:g.71941720T>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Leu81Pro	rs747112638	missense variant	-	NC_000012.12:g.71941720T>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Arg82Ser	rs147125940	missense variant	-	NC_000012.12:g.71941724G>C	1000Genomes,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Leu83Ile	rs148074013	missense variant	-	NC_000012.12:g.71941725C>A	1000Genomes,ExAC,gnomAD
TPH2	Q8IWU9	p.Leu83Val	rs148074013	missense variant	-	NC_000012.12:g.71941725C>G	1000Genomes,ExAC,gnomAD
TPH2	Q8IWU9	p.Gln85Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71941731C>G	NCI-TCGA
TPH2	Q8IWU9	p.Glu86Asp	rs1322861235	missense variant	-	NC_000012.12:g.71944296A>C	TOPMed
TPH2	Q8IWU9	p.Glu86Val	rs1176163651	missense variant	-	NC_000012.12:g.71944295A>T	gnomAD
TPH2	Q8IWU9	p.Glu86Gln	rs77828767	missense variant	-	NC_000012.12:g.71944294G>C	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu86Lys	COSM2101541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944294G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Lys87Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71944297A>C	NCI-TCGA
TPH2	Q8IWU9	p.Arg88Pro	rs138035638	missense variant	-	NC_000012.12:g.71944301G>C	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg88His	rs138035638	missense variant	-	NC_000012.12:g.71944301G>A	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg88Cys	RCV000280178	missense variant	Tryptophan 5-monooxygenase deficiency	NC_000012.12:g.71944300C>T	ClinVar
TPH2	Q8IWU9	p.Arg88Cys	rs779979959	missense variant	-	NC_000012.12:g.71944300C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Asn90Lys	rs1456444375	missense variant	-	NC_000012.12:g.71944308C>A	TOPMed
TPH2	Q8IWU9	p.Asn90Ser	rs1392687685	missense variant	-	NC_000012.12:g.71944307A>G	TOPMed
TPH2	Q8IWU9	p.Asn90Thr	rs1392687685	missense variant	-	NC_000012.12:g.71944307A>C	TOPMed
TPH2	Q8IWU9	p.Met91Ile	rs146967917	missense variant	-	NC_000012.12:g.71944311G>T	1000Genomes,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Met91Ile	rs146967917	missense variant	-	NC_000012.12:g.71944311G>A	1000Genomes,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Met91Val	rs776246945	missense variant	-	NC_000012.12:g.71944309A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Val92Ala	rs924561014	missense variant	-	NC_000012.12:g.71944313T>C	TOPMed,gnomAD
TPH2	Q8IWU9	p.Val92Ile	rs1431959572	missense variant	-	NC_000012.12:g.71944312G>A	gnomAD
TPH2	Q8IWU9	p.His93Tyr	COSM3465061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944315C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ile94Val	rs773675872	missense variant	-	NC_000012.12:g.71944318A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Lys98Ile	rs752096291	missense variant	-	NC_000012.12:g.71944331A>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Arg100Gln	rs530018658	missense variant	-	NC_000012.12:g.71944337G>A	1000Genomes,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg101Ter	rs373511053	stop gained	-	NC_000012.12:g.71944339C>T	ESP,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg101Gln	rs149529607	missense variant	-	NC_000012.12:g.71944340G>A	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ser103Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71944346G>T	NCI-TCGA
TPH2	Q8IWU9	p.Glu107Gly	COSM1476925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944358A>G	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Phe109Leu	rs758176787	missense variant	-	NC_000012.12:g.71944365T>G	ExAC,gnomAD
TPH2	Q8IWU9	p.CysGluCys112CysGluTerValUnk	rs1172420557	stop gained	-	NC_000012.12:g.71944379_71944380insAGTG	gnomAD
TPH2	Q8IWU9	p.Gly115Arg	rs1395022546	missense variant	-	NC_000012.12:g.71944381G>A	gnomAD
TPH2	Q8IWU9	p.Gly115Glu	rs1401727349	missense variant	-	NC_000012.12:g.71944382G>A	gnomAD
TPH2	Q8IWU9	p.Lys116Glu	rs746919519	missense variant	-	NC_000012.12:g.71944384A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Lys116Asn	rs768689722	missense variant	-	NC_000012.12:g.71944386A>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Lys116Asn	rs768689722	missense variant	-	NC_000012.12:g.71944386A>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Glu118Ter	COSM943301	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71944390G>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Asn120Lys	rs780521084	missense variant	-	NC_000012.12:g.71944398T>G	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ile123Val	rs1302695288	missense variant	-	NC_000012.12:g.71944405A>G	TOPMed,gnomAD
TPH2	Q8IWU9	p.Ile123Thr	COSM695155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944406T>C	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Gln124Ter	COSM3872459	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71944408C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Gln124Arg	rs548166835	missense variant	-	NC_000012.12:g.71944409A>G	1000Genomes,ExAC,gnomAD
TPH2	Q8IWU9	p.Thr131Ala	rs773008990	missense variant	-	NC_000012.12:g.71944429A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Thr134Met	rs560203761	missense variant	-	NC_000012.12:g.71944439C>T	1000Genomes,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro137Arg	rs1466816439	missense variant	-	NC_000012.12:g.71944448C>G	gnomAD
TPH2	Q8IWU9	p.Pro138Leu	rs886049814	missense variant	-	NC_000012.12:g.71944451C>T	TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro138Leu	RCV000335040	missense variant	Tryptophan 5-monooxygenase deficiency	NC_000012.12:g.71944451C>T	ClinVar
TPH2	Q8IWU9	p.Pro138Ala	COSM695154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944450C>G	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Asn140Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71944456A>G	NCI-TCGA
TPH2	Q8IWU9	p.Asn140Ser	rs1192470207	missense variant	-	NC_000012.12:g.71944457A>G	TOPMed,gnomAD
TPH2	Q8IWU9	p.Trp142Gly	rs774894224	missense variant	-	NC_000012.12:g.71944462T>G	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Trp142Arg	rs774894224	missense variant	-	NC_000012.12:g.71944462T>C	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Trp142Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71944464G>T	NCI-TCGA
TPH2	Q8IWU9	p.Thr143Ile	rs759935946	missense variant	-	NC_000012.12:g.71944466C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Glu145Gly	rs527350890	missense variant	-	NC_000012.12:g.71944472A>G	1000Genomes,ExAC,gnomAD
TPH2	Q8IWU9	p.Glu146Lys	rs1457074147	missense variant	-	NC_000012.12:g.71944474G>A	gnomAD
TPH2	Q8IWU9	p.Leu148Gln	rs776742518	missense variant	-	NC_000012.12:g.71944589T>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Glu149Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71944593G>T	NCI-TCGA
TPH2	Q8IWU9	p.Glu149Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71944591G>C	NCI-TCGA
TPH2	Q8IWU9	p.Asp150Gly	rs1435461551	missense variant	-	NC_000012.12:g.71944595A>G	TOPMed
TPH2	Q8IWU9	p.Asp150Asn	rs761976247	missense variant	-	NC_000012.12:g.71944594G>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Val151Gly	rs1346046481	missense variant	-	NC_000012.12:g.71944598T>G	TOPMed
TPH2	Q8IWU9	p.Trp153Leu	rs1202088019	missense variant	-	NC_000012.12:g.71944604G>T	gnomAD
TPH2	Q8IWU9	p.Trp153Arg	rs1340978908	missense variant	-	NC_000012.12:g.71944603T>C	gnomAD
TPH2	Q8IWU9	p.Arg156Trp	rs767269211	missense variant	-	NC_000012.12:g.71944612C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Arg156Gln	rs147469527	missense variant	-	NC_000012.12:g.71944613G>A	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu160Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71944625A>C	NCI-TCGA
TPH2	Q8IWU9	p.His166Tyr	rs756158215	missense variant	-	NC_000012.12:g.71944642C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.His166Gln	rs1373866647	missense variant	-	NC_000012.12:g.71944644C>G	gnomAD
TPH2	Q8IWU9	p.Arg167Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71944646G>T	NCI-TCGA
TPH2	Q8IWU9	p.Leu169Val	rs1166293621	missense variant	-	NC_000012.12:g.71944651C>G	gnomAD
TPH2	Q8IWU9	p.Met170Ile	rs370259255	missense variant	-	NC_000012.12:g.71944656G>A	ESP,TOPMed
TPH2	Q8IWU9	p.Tyr171Cys	rs1190911999	missense variant	-	NC_000012.12:g.71944658A>G	TOPMed
TPH2	Q8IWU9	p.Tyr171Asn	rs1389615107	missense variant	-	NC_000012.12:g.71944657T>A	gnomAD
TPH2	Q8IWU9	p.Ser173Phe	COSM3465063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944664C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Glu174Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71944666G>A	NCI-TCGA
TPH2	Q8IWU9	p.His179Tyr	rs574407896	missense variant	-	NC_000012.12:g.71944681C>T	gnomAD
TPH2	Q8IWU9	p.Pro180Leu	COSM3465064	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71944685C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Pro180Arg	rs1327839278	missense variant	-	NC_000012.12:g.71944685C>G	gnomAD
TPH2	Q8IWU9	p.Gly181Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71949589G>A	NCI-TCGA
TPH2	Q8IWU9	p.Asp184Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71949597G>A	NCI-TCGA
TPH2	Q8IWU9	p.Asn185Lys	rs756840935	missense variant	-	NC_000012.12:g.71949602T>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Asn185Lys	rs756840935	missense variant	-	NC_000012.12:g.71949602T>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Tyr187Cys	rs1319439550	missense variant	-	NC_000012.12:g.71949607A>G	gnomAD
TPH2	Q8IWU9	p.Arg188Ter	COSM3465065	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71949609C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Arg188Gln	rs1442474331	missense variant	-	NC_000012.12:g.71949610G>A	gnomAD
TPH2	Q8IWU9	p.Gln189His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71949614G>T	NCI-TCGA
TPH2	Q8IWU9	p.Lys192Thr	rs1385160650	missense variant	-	NC_000012.12:g.71949622A>C	gnomAD
TPH2	Q8IWU9	p.Val195Glu	rs1329923017	missense variant	-	NC_000012.12:g.71949631T>A	gnomAD
TPH2	Q8IWU9	p.Met199Ile	rs1383732880	missense variant	-	NC_000012.12:g.71949644G>T	gnomAD
TPH2	Q8IWU9	p.Gly200Asp	rs1233143189	missense variant	-	NC_000012.12:g.71949646G>A	gnomAD
TPH2	Q8IWU9	p.Tyr203Phe	rs1189508059	missense variant	-	NC_000012.12:g.71949655A>T	TOPMed
TPH2	Q8IWU9	p.Tyr203His	rs893262803	missense variant	-	NC_000012.12:g.71949654T>C	TOPMed,gnomAD
TPH2	Q8IWU9	p.Gly204Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71972521G>A	NCI-TCGA
TPH2	Q8IWU9	p.Gln205Ter	rs1353496369	stop gained	-	NC_000012.12:g.71972523C>T	TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro206Ser	rs17110563	missense variant	-	NC_000012.12:g.71972526C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro206Arg	rs371804418	missense variant	-	NC_000012.12:g.71972527C>G	ESP
TPH2	Q8IWU9	p.Pro206Ser	RCV000003314	missense variant	Bipolar affective disorder, susceptibility to	NC_000012.12:g.71972526C>T	ClinVar
TPH2	Q8IWU9	p.Pro208Thr	rs764579606	missense variant	-	NC_000012.12:g.71972532C>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Pro208Ser	COSM3465066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972532C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Val210Met	rs754297429	missense variant	-	NC_000012.12:g.71972538G>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Tyr212Cys	rs1350043733	missense variant	-	NC_000012.12:g.71972545A>G	TOPMed
TPH2	Q8IWU9	p.Thr213Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71972547A>T	NCI-TCGA
TPH2	Q8IWU9	p.Glu215Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71972553G>A	NCI-TCGA
TPH2	Q8IWU9	p.Glu216Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.71972556G>T	NCI-TCGA
TPH2	Q8IWU9	p.Thr219Ser	rs745975775	missense variant	-	NC_000012.12:g.71972566C>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Trp220Ter	rs371750104	stop gained	-	NC_000012.12:g.71972569G>A	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Gly221Val	rs1302360081	missense variant	-	NC_000012.12:g.71972572G>T	TOPMed
TPH2	Q8IWU9	p.Val222Ile	rs780434655	missense variant	-	NC_000012.12:g.71972574G>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Val223Leu	rs747311892	missense variant	-	NC_000012.12:g.71972577G>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Arg225Trp	rs1386735125	missense variant	-	NC_000012.12:g.71972583C>T	gnomAD
TPH2	Q8IWU9	p.Arg225Gln	rs139896303	missense variant	-	NC_000012.12:g.71972584G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg225Gln	rs139896303	missense variant	-	NC_000012.12:g.71972584G>A	NCI-TCGA
TPH2	Q8IWU9	p.Arg225Trp	rs1386735125	missense variant	-	NC_000012.12:g.71972583C>T	NCI-TCGA
TPH2	Q8IWU9	p.Glu226Lys	COSM3688433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972586G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Lys229Arg	rs1396764602	missense variant	-	NC_000012.12:g.71972596A>G	gnomAD
TPH2	Q8IWU9	p.Pro232Ala	COSM1323079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972604C>G	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Pro232His	COSM3812969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972605C>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Pro232Ser	rs773096016	missense variant	-	NC_000012.12:g.71972604C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Pro232Ser	rs773096016	missense variant	-	NC_000012.12:g.71972604C>T	NCI-TCGA,NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Pro232Leu	rs749155035	missense variant	-	NC_000012.12:g.71972605C>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.His234Arg	rs773814329	missense variant	-	NC_000012.12:g.71972611A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Ala235Asp	COSM6073633	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972614C>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ala235Thr	rs1286217998	missense variant	-	NC_000012.12:g.71972613G>A	gnomAD
TPH2	Q8IWU9	p.Arg237Gln	rs771657319	missense variant	-	NC_000012.12:g.71972620G>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg237Ter	rs759053436	stop gained	-	NC_000012.12:g.71972619C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Arg237Pro	rs771657319	missense variant	-	NC_000012.12:g.71972620G>C	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu238Asp	COSM5043133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972624G>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Tyr239Ter	rs1449407748	stop gained	-	NC_000012.12:g.71972627T>A	gnomAD
TPH2	Q8IWU9	p.Tyr239Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71972626A>T	NCI-TCGA
TPH2	Q8IWU9	p.Lys241Gln	rs1220122053	missense variant	-	NC_000012.12:g.71972631A>C	gnomAD
TPH2	Q8IWU9	p.Asn242LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.71972630_71972631insA	NCI-TCGA
TPH2	Q8IWU9	p.Phe243Val	COSM5456360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972637T>G	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Pro244Leu	rs1481207864	missense variant	-	NC_000012.12:g.71972641C>T	gnomAD
TPH2	Q8IWU9	p.Pro244Leu	rs1481207864	missense variant	-	NC_000012.12:g.71972641C>T	NCI-TCGA
TPH2	Q8IWU9	p.Leu245Met	rs754251765	missense variant	-	NC_000012.12:g.71972643C>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Thr247Ser	rs1410197818	missense variant	-	NC_000012.12:g.71972650C>G	gnomAD
TPH2	Q8IWU9	p.Lys248Glu	rs1472415982	missense variant	-	NC_000012.12:g.71972652A>G	gnomAD
TPH2	Q8IWU9	p.Tyr249Cys	rs1044303615	missense variant	-	NC_000012.12:g.71972656A>G	TOPMed
TPH2	Q8IWU9	p.Gly251Val	rs762185691	missense variant	-	NC_000012.12:g.71972662G>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Gly251Ser	rs1165888070	missense variant	-	NC_000012.12:g.71972661G>A	gnomAD
TPH2	Q8IWU9	p.Tyr252Ter	rs1403700310	stop gained	-	NC_000012.12:g.71972666C>G	gnomAD
TPH2	Q8IWU9	p.Arg253Gly	rs765842055	missense variant	-	NC_000012.12:g.71972667A>G	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg253Ser	rs1355045873	missense variant	-	NC_000012.12:g.71972669A>C	gnomAD
TPH2	Q8IWU9	p.Glu254Lys	rs1444273105	missense variant	-	NC_000012.12:g.71972670G>A	gnomAD
TPH2	Q8IWU9	p.Asp255Glu	rs1349614764	missense variant	-	NC_000012.12:g.71972675C>A	TOPMed,gnomAD
TPH2	Q8IWU9	p.Asp255Glu	rs1349614764	missense variant	-	NC_000012.12:g.71972675C>A	NCI-TCGA
TPH2	Q8IWU9	p.Pro258LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.71972682C>-	NCI-TCGA
TPH2	Q8IWU9	p.Glu261Lys	rs751697696	missense variant	-	NC_000012.12:g.71972691G>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Asp262Ala	rs1227246957	missense variant	-	NC_000012.12:g.71972695A>C	gnomAD
TPH2	Q8IWU9	p.Asp262Gly	rs1227246957	missense variant	-	NC_000012.12:g.71972695A>G	gnomAD
TPH2	Q8IWU9	p.Ser264Phe	COSM4044711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71972701C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Met265Thr	rs755272489	missense variant	-	NC_000012.12:g.71972704T>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Phe266Leu	rs777387277	missense variant	-	NC_000012.12:g.71972708T>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Lys268Ile	rs1261065645	missense variant	-	NC_000012.12:g.71972713A>T	TOPMed
TPH2	Q8IWU9	p.Glu269Lys	rs1207894902	missense variant	-	NC_000012.12:g.71972715G>A	gnomAD
TPH2	Q8IWU9	p.Glu269Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71972715G>C	NCI-TCGA
TPH2	Q8IWU9	p.Arg270Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71978956G>C	NCI-TCGA
TPH2	Q8IWU9	p.Arg270Lys	rs755118249	missense variant	-	NC_000012.12:g.71978955G>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Ser271Cys	rs1411565002	missense variant	-	NC_000012.12:g.71978958C>G	TOPMed
TPH2	Q8IWU9	p.Gly272Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71978961G>C	NCI-TCGA
TPH2	Q8IWU9	p.Thr274Met	rs753521841	missense variant	-	NC_000012.12:g.71978967C>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Val275Leu	rs778748809	missense variant	-	NC_000012.12:g.71978969G>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Arg276Ser	rs773797105	missense variant	-	NC_000012.12:g.71978974G>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro277Leu	rs373088979	missense variant	-	NC_000012.12:g.71978976C>T	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro277Leu	rs373088979	missense variant	-	NC_000012.12:g.71978976C>T	NCI-TCGA,NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Val278Leu	rs768134247	missense variant	-	NC_000012.12:g.71978978G>C	ExAC
TPH2	Q8IWU9	p.Val278Leu	rs768134247	missense variant	-	NC_000012.12:g.71978978G>C	NCI-TCGA,NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ala279Thr	rs776332621	missense variant	-	NC_000012.12:g.71978981G>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Ser283Thr	rs1481357625	missense variant	-	NC_000012.12:g.71978994G>C	gnomAD
TPH2	Q8IWU9	p.Ser283Asn	COSM4044713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71978994G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ser283Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71978995C>G	NCI-TCGA
TPH2	Q8IWU9	p.Ser283Arg	rs1176183110	missense variant	-	NC_000012.12:g.71978995C>A	gnomAD
TPH2	Q8IWU9	p.Pro284Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71978996C>A	NCI-TCGA
TPH2	Q8IWU9	p.Pro284Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71978997C>A	NCI-TCGA
TPH2	Q8IWU9	p.Pro284Ser	rs770250587	missense variant	-	NC_000012.12:g.71978996C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Arg285Gln	rs1003537800	missense variant	-	NC_000012.12:g.71979000G>A	gnomAD
TPH2	Q8IWU9	p.Leu288Met	rs763501912	missense variant	-	NC_000012.12:g.71979008C>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Ala289Glu	rs1318602856	missense variant	-	NC_000012.12:g.71979012C>A	gnomAD
TPH2	Q8IWU9	p.Gly290Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.71979014G>T	NCI-TCGA
TPH2	Q8IWU9	p.Leu291Pro	rs1328017774	missense variant	-	NC_000012.12:g.71979018T>C	TOPMed
TPH2	Q8IWU9	p.His297Asn	rs1258663676	missense variant	-	NC_000012.12:g.71979035C>A	TOPMed
TPH2	Q8IWU9	p.Cys298Ser	rs1237324362	missense variant	-	NC_000012.12:g.71979039G>C	TOPMed
TPH2	Q8IWU9	p.Thr299Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71979042C>G	NCI-TCGA
TPH2	Q8IWU9	p.Gln300Lys	rs1444795844	missense variant	-	NC_000012.12:g.71979044C>A	gnomAD
TPH2	Q8IWU9	p.Arg303Trp	rs120074176	missense variant	-	NC_000012.12:g.71979053C>T	ESP,ExAC,gnomAD
TPH2	Q8IWU9	p.Arg303Trp	rs120074176	missense variant	Attention deficit-hyperactivity disorder 7 (ADHD7)	NC_000012.12:g.71979053C>T	UniProt,dbSNP
TPH2	Q8IWU9	p.Arg303Trp	VAR_058942	missense variant	Attention deficit-hyperactivity disorder 7 (ADHD7)	NC_000012.12:g.71979053C>T	UniProt
TPH2	Q8IWU9	p.Arg303Gln	rs953539388	missense variant	-	NC_000012.12:g.71979054G>A	gnomAD
TPH2	Q8IWU9	p.Arg303Trp	rs120074176	missense variant	-	NC_000012.12:g.71979053C>T	NCI-TCGA,NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Arg303Trp	RCV000003313	missense variant	Attention deficit-hyperactivity disorder 7 (ADHD7)	NC_000012.12:g.71979053C>T	ClinVar
TPH2	Q8IWU9	p.Arg303Gln	rs953539388	missense variant	-	NC_000012.12:g.71979054G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Gly305Ser	rs369839308	missense variant	-	NC_000012.12:g.71979059G>A	ESP,TOPMed
TPH2	Q8IWU9	p.Ser306Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.71979063C>G	NCI-TCGA
TPH2	Q8IWU9	p.Pro308Ser	rs1277010383	missense variant	-	NC_000012.12:g.71979068C>T	gnomAD
TPH2	Q8IWU9	p.Leu309Ile	COSM1364104	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71979071C>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Pro312Leu	rs756370445	missense variant	-	NC_000012.12:g.71979081C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Pro312Leu	rs756370445	missense variant	-	NC_000012.12:g.71979081C>T	NCI-TCGA,NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Pro314Leu	rs750241429	missense variant	-	NC_000012.12:g.71979087C>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Thr316Arg	COSM73051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994444C>G	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Thr316Ala	rs775596364	missense variant	-	NC_000012.12:g.71994443A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.His318Arg	rs1445123310	missense variant	-	NC_000012.12:g.71994450A>G	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.His318Arg	rs1445123310	missense variant	-	NC_000012.12:g.71994450A>G	TOPMed
TPH2	Q8IWU9	p.His318Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71994449C>A	NCI-TCGA
TPH2	Q8IWU9	p.Leu320Phe	rs760839526	missense variant	-	NC_000012.12:g.71994455C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.His323Arg	rs1286230877	missense variant	-	NC_000012.12:g.71994465A>G	TOPMed
TPH2	Q8IWU9	p.Val324Leu	rs1055143660	missense variant	-	NC_000012.12:g.71994467G>C	TOPMed,gnomAD
TPH2	Q8IWU9	p.Val324Ile	rs1055143660	missense variant	-	NC_000012.12:g.71994467G>A	TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro325Ser	COSM3465069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994470C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ala328Val	rs2887147	missense variant	-	NC_000012.12:g.71994480C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Ala328Val	rs2887147	missense variant	-	NC_000012.12:g.71994480C>T	UniProt,dbSNP
TPH2	Q8IWU9	p.Ala328Val	VAR_058943	missense variant	-	NC_000012.12:g.71994480C>T	UniProt
TPH2	Q8IWU9	p.Ala328Val	rs2887147	missense variant	-	NC_000012.12:g.71994480C>T	NCI-TCGA,NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ala328Glu	rs2887147	missense variant	-	NC_000012.12:g.71994480C>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Lys331Met	COSM195281	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994489A>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Lys331Thr	COSM6138132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994489A>C	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Gln334Glu	rs946786142	missense variant	-	NC_000012.12:g.71994497C>G	TOPMed
TPH2	Q8IWU9	p.Ser336Leu	COSM4398323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994504C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ile339Met	rs143153059	missense variant	-	NC_000012.12:g.71994514A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Gly340Ser	COSM6138131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994515G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ala342Val	rs755764502	missense variant	-	NC_000012.12:g.71994522C>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ala342Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71994521G>T	NCI-TCGA
TPH2	Q8IWU9	p.Ala342Glu	rs755764502	missense variant	-	NC_000012.12:g.71994522C>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Leu344Arg	COSM6073632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994528T>G	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ala346Val	rs1408336116	missense variant	-	NC_000012.12:g.71994534C>T	gnomAD
TPH2	Q8IWU9	p.Asp348Gly	rs1247098915	missense variant	-	NC_000012.12:g.71994540A>G	gnomAD
TPH2	Q8IWU9	p.Asp348His	rs370276646	missense variant	-	NC_000012.12:g.71994539G>C	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu349Val	rs1461374724	missense variant	-	NC_000012.12:g.71994543A>T	TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu349Lys	COSM431823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994542G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Val351Ile	rs775508656	missense variant	-	NC_000012.12:g.71994548G>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Gln352Arg	rs1253828696	missense variant	-	NC_000012.12:g.71994552A>G	gnomAD
TPH2	Q8IWU9	p.Ala355Asp	COSM6138130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71994561C>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Thr356Lys	rs760757722	missense variant	-	NC_000012.12:g.71994564C>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Thr356Met	rs760757722	missense variant	-	NC_000012.12:g.71994564C>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Thr361Ser	COSM4942080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72022411A>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ile362Thr	rs779288303	missense variant	-	NC_000012.12:g.72022415T>C	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ile362Val	rs756911079	missense variant	-	NC_000012.12:g.72022414A>G	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu363Lys	rs146667593	missense variant	-	NC_000012.12:g.72022417G>A	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu363Lys	rs146667593	missense variant	-	NC_000012.12:g.72022417G>A	NCI-TCGA,NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Gly365Asp	rs780525755	missense variant	-	NC_000012.12:g.72022424G>A	ExAC
TPH2	Q8IWU9	p.Leu366Ile	rs747579746	missense variant	-	NC_000012.12:g.72022426C>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Lys368Glu	rs768689276	missense variant	-	NC_000012.12:g.72022432A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Lys368Arg	rs776738248	missense variant	-	NC_000012.12:g.72022433A>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Arg374Trp	rs762044026	missense variant	-	NC_000012.12:g.72022450C>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg374Gln	rs1435928815	missense variant	-	NC_000012.12:g.72022451G>A	TOPMed,gnomAD
TPH2	Q8IWU9	p.Ala375Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72022454C>T	NCI-TCGA
TPH2	Q8IWU9	p.Ala378Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72022463C>A	NCI-TCGA
TPH2	Q8IWU9	p.Ala378Thr	rs78369038	missense variant	-	NC_000012.12:g.72022462G>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Gly379Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72022466G>A	NCI-TCGA
TPH2	Q8IWU9	p.Gly379Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.72022465G>T	NCI-TCGA
TPH2	Q8IWU9	p.Leu381Pro	rs1297274899	missense variant	-	NC_000012.12:g.72022472T>C	TOPMed
TPH2	Q8IWU9	p.Leu381Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72022471C>A	NCI-TCGA
TPH2	Q8IWU9	p.Ser383Phe	rs371065822	missense variant	-	NC_000012.12:g.72022478C>T	ESP,ExAC,gnomAD
TPH2	Q8IWU9	p.Ile384Ser	rs760738354	missense variant	-	NC_000012.12:g.72022481T>G	ExAC
TPH2	Q8IWU9	p.Gly385Glu	rs763677154	missense variant	-	NC_000012.12:g.72022484G>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu386Gln	rs753313063	missense variant	-	NC_000012.12:g.72022486G>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Glu386Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.72022486G>T	NCI-TCGA
TPH2	Q8IWU9	p.Lys388Gln	rs1357596764	missense variant	-	NC_000012.12:g.72022492A>C	gnomAD
TPH2	Q8IWU9	p.Ala390Thr	rs533065952	missense variant	-	NC_000012.12:g.72031261G>A	TOPMed
TPH2	Q8IWU9	p.Ala390Ser	rs533065952	missense variant	-	NC_000012.12:g.72031261G>T	TOPMed
TPH2	Q8IWU9	p.Asp393Val	rs1161676605	missense variant	-	NC_000012.12:g.72031271A>T	gnomAD
TPH2	Q8IWU9	p.Ala395Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72031277C>T	NCI-TCGA
TPH2	Q8IWU9	p.Cys396Phe	rs1456779951	missense variant	-	NC_000012.12:g.72031280G>T	gnomAD
TPH2	Q8IWU9	p.Cys396Tyr	COSM1364108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031280G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Val397Ala	COSM4044715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031283T>C	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Ala399Val	rs1395026610	missense variant	-	NC_000012.12:g.72031289C>T	TOPMed
TPH2	Q8IWU9	p.Thr404Lys	rs191507707	missense variant	-	NC_000012.12:g.72031304C>A	1000Genomes,ExAC,gnomAD
TPH2	Q8IWU9	p.Leu407Phe	rs753015150	missense variant	-	NC_000012.12:g.72031314A>C	TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu409Lys	COSM3465075	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031318G>A	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Leu411Phe	rs933072753	missense variant	-	NC_000012.12:g.72031324C>T	TOPMed
TPH2	Q8IWU9	p.Ile412Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72031329C>G	NCI-TCGA
TPH2	Q8IWU9	p.Thr414Ser	rs889316262	missense variant	-	NC_000012.12:g.72031334C>G	TOPMed
TPH2	Q8IWU9	p.Thr414Ser	rs756147028	missense variant	-	NC_000012.12:g.72031333A>T	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Phe415Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72031336T>G	NCI-TCGA
TPH2	Q8IWU9	p.Glu417Lys	rs1016965894	missense variant	-	NC_000012.12:g.72031342G>A	TOPMed,gnomAD
TPH2	Q8IWU9	p.Glu417Gly	rs899156318	missense variant	-	NC_000012.12:g.72031343A>G	TOPMed,gnomAD
TPH2	Q8IWU9	p.Val421Ile	rs1324072185	missense variant	-	NC_000012.12:g.72031354G>A	gnomAD
TPH2	Q8IWU9	p.Glu423Ter	COSM173703	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.72031360G>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Glu430Lys	rs1268739752	missense variant	-	NC_000012.12:g.72031381G>A	gnomAD
TPH2	Q8IWU9	p.Glu430Gly	rs371729573	missense variant	-	NC_000012.12:g.72031382A>G	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Met432Ile	rs375357832	missense variant	-	NC_000012.12:g.72031389G>T	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Met432Thr	rs1205727913	missense variant	-	NC_000012.12:g.72031388T>C	TOPMed
TPH2	Q8IWU9	p.Arg433Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72031391G>A	NCI-TCGA
TPH2	Q8IWU9	p.Arg433Gly	VAR_065019	Missense	-	-	UniProt
TPH2	Q8IWU9	p.Asp434Glu	rs781089624	missense variant	-	NC_000012.12:g.72031524C>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Asp434Val	rs932872287	missense variant	-	NC_000012.12:g.72031523A>T	TOPMed
TPH2	Q8IWU9	p.Ala436Gly	rs375168296	missense variant	-	NC_000012.12:g.72031529C>G	ESP,ExAC,gnomAD
TPH2	Q8IWU9	p.Ala436Glu	rs375168296	missense variant	-	NC_000012.12:g.72031529C>A	ESP,ExAC,gnomAD
TPH2	Q8IWU9	p.Ile439Val	rs1050591696	missense variant	-	NC_000012.12:g.72031537A>G	TOPMed,gnomAD
TPH2	Q8IWU9	p.Ile439Phe	rs1050591696	missense variant	-	NC_000012.12:g.72031537A>T	TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg441His	RCV000003312	missense variant	Unipolar depression, susceptibility to	NC_000012.12:g.72031544G>A	ClinVar
TPH2	Q8IWU9	p.Arg441His	rs120074175	missense variant	-	NC_000012.12:g.72031544G>A	UniProt,dbSNP
TPH2	Q8IWU9	p.Arg441His	VAR_026749	missense variant	-	NC_000012.12:g.72031544G>A	UniProt
TPH2	Q8IWU9	p.Arg441Cys	rs911612184	missense variant	-	NC_000012.12:g.72031543C>T	-
TPH2	Q8IWU9	p.Arg441His	rs120074175	missense variant	-	NC_000012.12:g.72031544G>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Pro442Thr	rs1297677620	missense variant	-	NC_000012.12:g.72031546C>A	gnomAD
TPH2	Q8IWU9	p.Val445Leu	rs762461080	missense variant	-	NC_000012.12:g.72031555G>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Val445Ala	rs770482427	missense variant	-	NC_000012.12:g.72031556T>C	ExAC
TPH2	Q8IWU9	p.Tyr446Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72031559A>G	NCI-TCGA
TPH2	Q8IWU9	p.Asn448Ser	rs773992105	missense variant	-	NC_000012.12:g.72031565A>G	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Pro449Ser	rs759229053	missense variant	-	NC_000012.12:g.72031567C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Pro449Leu	COSM6138129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031568C>T	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Pro449His	rs1339161163	missense variant	-	NC_000012.12:g.72031568C>A	gnomAD
TPH2	Q8IWU9	p.Tyr450ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.72031567C>-	NCI-TCGA
TPH2	Q8IWU9	p.Thr451Ile	rs1201344273	missense variant	-	NC_000012.12:g.72031574C>T	gnomAD
TPH2	Q8IWU9	p.Thr451Lys	rs1201344273	missense variant	-	NC_000012.12:g.72031574C>A	gnomAD
TPH2	Q8IWU9	p.Gln452Leu	rs767755480	missense variant	-	NC_000012.12:g.72031577A>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Ser453Arg	rs761047269	missense variant	-	NC_000012.12:g.72031581T>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Ser453Asn	rs753131705	missense variant	-	NC_000012.12:g.72031580G>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ile454Thr	rs1229381616	missense variant	-	NC_000012.12:g.72031583T>C	TOPMed
TPH2	Q8IWU9	p.Glu455Gln	rs764667557	missense variant	-	NC_000012.12:g.72031585G>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Glu455Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72031585G>A	NCI-TCGA
TPH2	Q8IWU9	p.Ser462Thr	rs757400375	missense variant	-	NC_000012.12:g.72031607G>C	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ser462Arg	rs1406880601	missense variant	-	NC_000012.12:g.72031608T>A	TOPMed
TPH2	Q8IWU9	p.Ser462Asn	rs757400375	missense variant	-	NC_000012.12:g.72031607G>A	ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Ile463Thr	rs944461378	missense variant	-	NC_000012.12:g.72031610T>C	TOPMed,gnomAD
TPH2	Q8IWU9	p.Val467Ala	COSM273374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.72031622T>C	NCI-TCGA Cosmic
TPH2	Q8IWU9	p.Gln468Arg	rs1317926854	missense variant	-	NC_000012.12:g.72031625A>G	TOPMed
TPH2	Q8IWU9	p.Gln468Ter	rs1422692580	stop gained	-	NC_000012.12:g.72031624C>T	gnomAD
TPH2	Q8IWU9	p.Arg471Cys	rs150148746	missense variant	-	NC_000012.12:g.72031633C>T	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Arg471His	rs138642957	missense variant	-	NC_000012.12:g.72031634G>A	ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Asp473Asn	rs147025898	missense variant	-	NC_000012.12:g.72031639G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Leu474Val	rs199726216	missense variant	-	NC_000012.12:g.72031642T>G	1000Genomes,gnomAD
TPH2	Q8IWU9	p.Asn475Asp	rs1326282956	missense variant	-	NC_000012.12:g.72031645A>G	gnomAD
TPH2	Q8IWU9	p.Thr476Ile	rs769557162	missense variant	-	NC_000012.12:g.72031649C>T	ExAC,gnomAD
TPH2	Q8IWU9	p.Thr476Arg	rs769557162	missense variant	-	NC_000012.12:g.72031649C>G	ExAC,gnomAD
TPH2	Q8IWU9	p.Val477Met	rs770400466	missense variant	-	NC_000012.12:g.72031651G>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Val477Ala	rs773902443	missense variant	-	NC_000012.12:g.72031652T>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Cys478Gly	rs913581943	missense variant	-	NC_000012.12:g.72031654T>G	TOPMed
TPH2	Q8IWU9	p.Asp479Ala	rs759066473	missense variant	-	NC_000012.12:g.72031658A>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Leu481Ser	rs1466335309	missense variant	-	NC_000012.12:g.72031664T>C	gnomAD
TPH2	Q8IWU9	p.Asn482Asp	rs886049817	missense variant	-	NC_000012.12:g.72031666A>G	-
TPH2	Q8IWU9	p.Asn482Asp	RCV000364824	missense variant	Tryptophan 5-monooxygenase deficiency	NC_000012.12:g.72031666A>G	ClinVar
TPH2	Q8IWU9	p.Lys483Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72031670A>C	NCI-TCGA
TPH2	Q8IWU9	p.Met484Ile	rs1260976642	missense variant	-	NC_000012.12:g.72031674G>T	gnomAD
TPH2	Q8IWU9	p.Met484Thr	rs771791547	missense variant	-	NC_000012.12:g.72031673T>C	ExAC,gnomAD
TPH2	Q8IWU9	p.Met484Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72031674G>A	NCI-TCGA
TPH2	Q8IWU9	p.Gln486Lys	rs545695435	missense variant	-	NC_000012.12:g.72031678C>A	1000Genomes,ExAC,TOPMed,gnomAD
TPH2	Q8IWU9	p.Leu488Met	rs777244923	missense variant	-	NC_000012.12:g.72031684C>A	ExAC,gnomAD
TPH2	Q8IWU9	p.Gly489Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.72031687G>T	NCI-TCGA
TPH2	Q8IWU9	p.Gly489Arg	rs762457808	missense variant	-	NC_000012.12:g.72031687G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp2Val	rs1361585334	missense variant	-	NC_000004.12:g.121870309T>A	gnomAD
BBS7	Q8IWZ6	p.Asp2Asn	rs747365719	missense variant	-	NC_000004.12:g.121870310C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile4Val	rs780400529	missense variant	-	NC_000004.12:g.121870304T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile4Thr	rs542274936	missense variant	-	NC_000004.12:g.121870303A>G	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile4Thr	RCV000340451	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121870303A>G	ClinVar
BBS7	Q8IWZ6	p.Asn6Lys	rs200420622	missense variant	-	NC_000004.12:g.121870296G>C	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Arg7Leu	rs779391175	missense variant	-	NC_000004.12:g.121870294C>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Met8Leu	rs757370927	missense variant	-	NC_000004.12:g.121870292T>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Met8Val	rs757370927	missense variant	-	NC_000004.12:g.121870292T>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Asp9Asn	rs1455637176	missense variant	-	NC_000004.12:g.121870289C>T	gnomAD
BBS7	Q8IWZ6	p.Gln12Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.121870280G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Val13Met	rs753027552	missense variant	-	NC_000004.12:g.121868046C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly14Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121868042C>G	NCI-TCGA
BBS7	Q8IWZ6	p.Val15Leu	COSM6098997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121868040C>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Val15Ile	rs781530228	missense variant	-	NC_000004.12:g.121868040C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gln18Pro	rs1280391034	missense variant	-	NC_000004.12:g.121868030T>G	TOPMed
BBS7	Q8IWZ6	p.Thr20Ser	rs751350429	missense variant	-	NC_000004.12:g.121868024G>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr20Ile	rs751350429	missense variant	-	NC_000004.12:g.121868024G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Met21Val	rs1353055258	missense variant	-	NC_000004.12:g.121868022T>C	TOPMed
BBS7	Q8IWZ6	p.Ala26Thr	rs766450289	missense variant	-	NC_000004.12:g.121868007C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg28Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121868000C>T	NCI-TCGA
BBS7	Q8IWZ6	p.His29Gln	rs762882282	missense variant	-	NC_000004.12:g.121867996G>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Arg30SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.121867992_121867993CT>-	NCI-TCGA
BBS7	Q8IWZ6	p.Arg30Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.121867995T>A	NCI-TCGA
BBS7	Q8IWZ6	p.Ala31Asp	rs757531986	missense variant	-	NC_000004.12:g.121867991G>T	-
BBS7	Q8IWZ6	p.Thr32Ala	rs749914647	missense variant	-	NC_000004.12:g.121867989T>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile37Thr	rs1328906523	missense variant	-	NC_000004.12:g.121863272A>G	gnomAD
BBS7	Q8IWZ6	p.Ile37Val	rs1294638056	missense variant	-	NC_000004.12:g.121863273T>C	TOPMed
BBS7	Q8IWZ6	p.Asp39Tyr	COSM6166127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121863267C>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Asp39Gly	rs1400413414	missense variant	-	NC_000004.12:g.121863266T>C	gnomAD
BBS7	Q8IWZ6	p.Gly42Glu	rs1221499782	missense variant	-	NC_000004.12:g.121863257C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly42Glu	RCV000625806	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121863257C>T	ClinVar
BBS7	Q8IWZ6	p.Val43Ile	rs190999071	missense variant	-	NC_000004.12:g.121863255C>T	1000Genomes,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Cys46Tyr	rs753299730	missense variant	-	NC_000004.12:g.121863245C>T	ExAC
BBS7	Q8IWZ6	p.Met49Val	rs1469459149	missense variant	-	NC_000004.12:g.121863237T>C	gnomAD
BBS7	Q8IWZ6	p.Met49Thr	rs763772596	missense variant	-	NC_000004.12:g.121863236A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Lys50Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121863232C>A	NCI-TCGA
BBS7	Q8IWZ6	p.Glu53Ala	rs1180749261	missense variant	-	NC_000004.12:g.121863224T>G	gnomAD
BBS7	Q8IWZ6	p.Ala54Thr	rs1440611789	missense variant	-	NC_000004.12:g.121863222C>T	gnomAD
BBS7	Q8IWZ6	p.Ala55Gly	rs1209263561	missense variant	-	NC_000004.12:g.121863218G>C	TOPMed
BBS7	Q8IWZ6	p.Ala56Ser	rs1407094427	missense variant	-	NC_000004.12:g.121861679C>A	gnomAD
BBS7	Q8IWZ6	p.Val57Ala	rs752384289	missense variant	-	NC_000004.12:g.121861675A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Phe58Leu	rs763396174	missense variant	-	NC_000004.12:g.121861671G>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Lys59Asn	COSM732789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861668C>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Lys59Gln	rs773406953	missense variant	-	NC_000004.12:g.121861670T>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr60Ser	rs1460357186	missense variant	-	NC_000004.12:g.121861667T>A	TOPMed
BBS7	Q8IWZ6	p.Pro62Ala	rs765777187	missense variant	-	NC_000004.12:g.121861661G>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly63Arg	rs754579374	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121861658C>T	UniProt,dbSNP
BBS7	Q8IWZ6	p.Gly63Arg	VAR_066286	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121861658C>T	UniProt
BBS7	Q8IWZ6	p.Gly63Arg	rs754579374	missense variant	-	NC_000004.12:g.121861658C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Pro64Leu	rs747055521	missense variant	-	NC_000004.12:g.121861654G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile66Met	rs367765050	missense variant	-	NC_000004.12:g.121861647A>C	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile66Phe	VAR_038893	Missense	Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]	-	UniProt
BBS7	Q8IWZ6	p.Ala67Val	rs1290320900	missense variant	-	NC_000004.12:g.121861645G>A	TOPMed
BBS7	Q8IWZ6	p.Arg68Trp	COSM6098998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861643T>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Glu70Gln	rs1400310194	missense variant	-	NC_000004.12:g.121861637C>G	gnomAD
BBS7	Q8IWZ6	p.Gly72Arg	rs572718618	missense variant	-	NC_000004.12:g.121861631C>T	1000Genomes,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly72Arg	rs572718618	missense variant	-	NC_000004.12:g.121861631C>G	1000Genomes,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly72Glu	rs1438878255	missense variant	-	NC_000004.12:g.121861630C>T	gnomAD
BBS7	Q8IWZ6	p.Gly73Glu	rs901439488	missense variant	-	NC_000004.12:g.121861627C>T	gnomAD
BBS7	Q8IWZ6	p.Ile75Val	rs138872188	missense variant	-	NC_000004.12:g.121861622T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile75Val	RCV000178402	missense variant	-	NC_000004.12:g.121861622T>C	ClinVar
BBS7	Q8IWZ6	p.Asn76Ser	rs146125296	missense variant	-	NC_000004.12:g.121861618T>C	ESP,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Thr77Ile	rs1211486686	missense variant	-	NC_000004.12:g.121861615G>A	TOPMed
BBS7	Q8IWZ6	p.Pro78Ser	rs751170388	missense variant	-	NC_000004.12:g.121861613G>A	-
BBS7	Q8IWZ6	p.Gln79Arg	rs910242228	missense variant	-	NC_000004.12:g.121861609T>C	gnomAD
BBS7	Q8IWZ6	p.Lys81Glu	rs1480281788	missense variant	-	NC_000004.12:g.121861604T>C	gnomAD
BBS7	Q8IWZ6	p.Phe83Cys	COSM1050594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861597A>C	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Ala86Thr	rs755666874	missense variant	-	NC_000004.12:g.121861589C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ala86Val	rs1274597386	missense variant	-	NC_000004.12:g.121861588G>A	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser88Tyr	COSM3008457	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861582G>T	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Ser88Ala	rs1489244436	missense variant	-	NC_000004.12:g.121861583A>C	gnomAD
BBS7	Q8IWZ6	p.Ile90Met	rs199806762	missense variant	-	NC_000004.12:g.121861575A>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile90Val	rs1197411330	missense variant	-	NC_000004.12:g.121861577T>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile90Leu	rs1197411330	missense variant	-	NC_000004.12:g.121861577T>G	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile90Phe	rs1197411330	missense variant	-	NC_000004.12:g.121861577T>A	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly92Ala	rs754518306	missense variant	-	NC_000004.12:g.121861570C>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Phe93Val	rs750813339	missense variant	-	NC_000004.12:g.121861568A>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Phe93Ser	rs1342324257	missense variant	-	NC_000004.12:g.121861567A>G	gnomAD
BBS7	Q8IWZ6	p.Thr94Ser	rs202102193	missense variant	-	NC_000004.12:g.121861565T>A	1000Genomes,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Thr94Ser	RCV000283074	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121861565T>A	ClinVar
BBS7	Q8IWZ6	p.Gly97Glu	rs1226190524	missense variant	-	NC_000004.12:g.121861555C>T	gnomAD
BBS7	Q8IWZ6	p.Gln99Leu	COSM3775507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861549T>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Phe100Leu	rs750255237	missense variant	-	NC_000004.12:g.121861545G>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Leu101His	rs760863058	missense variant	-	NC_000004.12:g.121861543A>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Leu101Pro	rs760863058	missense variant	-	NC_000004.12:g.121861543A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Phe103Ser	rs1444574615	missense variant	-	NC_000004.12:g.121861537A>G	gnomAD
BBS7	Q8IWZ6	p.Leu107Ile	COSM1426639	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121861526G>T	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Ser110Asn	rs775395171	missense variant	-	NC_000004.12:g.121861516C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Met114Val	rs142305911	missense variant	-	NC_000004.12:g.121861505T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Met114Ile	rs771119779	missense variant	-	NC_000004.12:g.121859178C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Met114Leu	rs142305911	missense variant	-	NC_000004.12:g.121861505T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.His115Gln	rs1026737417	missense variant	-	NC_000004.12:g.121859175G>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser117Ala	rs771089464	missense variant	-	NC_000004.12:g.121859171A>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly118Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121859167C>A	NCI-TCGA
BBS7	Q8IWZ6	p.Asp120Tyr	COSM279132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121859162C>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Asp120Glu	rs865777835	missense variant	-	NC_000004.12:g.121859160G>T	TOPMed
BBS7	Q8IWZ6	p.Leu121Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121859159G>T	NCI-TCGA
BBS7	Q8IWZ6	p.Ala125Val	rs1386134554	missense variant	-	NC_000004.12:g.121859146G>A	TOPMed
BBS7	Q8IWZ6	p.Ser126Gly	rs989524053	missense variant	-	NC_000004.12:g.121859144T>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Tyr127Cys	rs1395783350	missense variant	-	NC_000004.12:g.121859140T>C	TOPMed
BBS7	Q8IWZ6	p.Tyr129Cys	rs762766426	missense variant	-	NC_000004.12:g.121859134T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asn130Ter	RCV000200204	frameshift	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121859130_121859131del	ClinVar
BBS7	Q8IWZ6	p.Asn130Ter	RCV000710060	frameshift	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121859130_121859131del	ClinVar
BBS7	Q8IWZ6	p.His131Tyr	rs772922826	missense variant	-	NC_000004.12:g.121859129G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.His131Gln	COSM1050593	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121859127A>T	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.His131Asn	rs772922826	missense variant	-	NC_000004.12:g.121859129G>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.His131Leu	rs1402271168	missense variant	-	NC_000004.12:g.121859128T>A	gnomAD
BBS7	Q8IWZ6	p.His131Asp	rs772922826	missense variant	-	NC_000004.12:g.121859129G>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Tyr132His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121859126A>G	NCI-TCGA
BBS7	Q8IWZ6	p.Cys133Tyr	rs769735978	missense variant	-	NC_000004.12:g.121859122C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp134Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121859119T>C	NCI-TCGA
BBS7	Q8IWZ6	p.Cys135Arg	rs748093313	missense variant	-	NC_000004.12:g.121859117A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp137Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121859110T>C	NCI-TCGA
BBS7	Q8IWZ6	p.Gln138Lys	rs1366190403	missense variant	-	NC_000004.12:g.121859108G>T	gnomAD
BBS7	Q8IWZ6	p.His139Asp	rs768091503	missense variant	-	NC_000004.12:g.121859105G>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Tyr140Cys	rs1243556280	missense variant	-	NC_000004.12:g.121859101T>C	TOPMed
BBS7	Q8IWZ6	p.Tyr140Ter	rs779596692	stop gained	-	NC_000004.12:g.121859100A>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Tyr140His	rs1262413437	missense variant	-	NC_000004.12:g.121859102A>G	gnomAD
BBS7	Q8IWZ6	p.Tyr141Phe	rs558795493	missense variant	-	NC_000004.12:g.121859098T>A	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Ser143Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121859092G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Ser143Tyr	rs754262900	missense variant	-	NC_000004.12:g.121859092G>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp145His	COSM3825086	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121859087C>G	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Asp145Gly	rs1209449438	missense variant	-	NC_000004.12:g.121859086T>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Lys146Glu	rs778229076	missense variant	-	NC_000004.12:g.121859084T>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile147Met	COSM732790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121859079G>C	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Asn148His	rs982037757	missense variant	-	NC_000004.12:g.121859078T>G	TOPMed
BBS7	Q8IWZ6	p.Asp149Tyr	rs1338107137	missense variant	-	NC_000004.12:g.121859075C>A	TOPMed
BBS7	Q8IWZ6	p.Cys152Arg	RCV000196306	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121859066A>G	ClinVar
BBS7	Q8IWZ6	p.Cys152Arg	rs863224814	missense variant	-	NC_000004.12:g.121859066A>G	-
BBS7	Q8IWZ6	p.Arg160Cys	rs756538454	missense variant	-	NC_000004.12:g.121859042G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg160His	rs138270119	missense variant	-	NC_000004.12:g.121859041C>T	ESP,TOPMed
BBS7	Q8IWZ6	p.Thr162Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121859035G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Pro163Ser	rs370690441	missense variant	-	NC_000004.12:g.121859033G>A	ESP,ExAC,gnomAD
BBS7	Q8IWZ6	p.Pro163Ser	RCV000384494	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121859033G>A	ClinVar
BBS7	Q8IWZ6	p.Val164Ile	rs897030336	missense variant	-	NC_000004.12:g.121859030C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ala166Asp	rs1341540567	missense variant	-	NC_000004.12:g.121859023G>T	gnomAD
BBS7	Q8IWZ6	p.Gln168Ter	rs1385873554	stop gained	-	NC_000004.12:g.121859018G>A	gnomAD
BBS7	Q8IWZ6	p.Gln168Arg	rs751615557	missense variant	-	NC_000004.12:g.121859017T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp169Gly	rs766590920	missense variant	-	NC_000004.12:g.121859014T>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg170Gly	rs199891330	missense variant	-	NC_000004.12:g.121859012T>C	1000Genomes,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val171Leu	rs377607757	missense variant	-	NC_000004.12:g.121859009C>G	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val171Met	rs377607757	missense variant	-	NC_000004.12:g.121859009C>T	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Leu172Phe	rs768591410	missense variant	-	NC_000004.12:g.121859006G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val174Ile	rs371007019	missense variant	-	NC_000004.12:g.121859000C>T	ESP
BBS7	Q8IWZ6	p.Leu175Phe	rs746533877	missense variant	-	NC_000004.12:g.121858995T>G	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gln176His	rs1015454276	missense variant	-	NC_000004.12:g.121858992C>A	gnomAD
BBS7	Q8IWZ6	p.Ser178Phe	rs765423866	missense variant	-	NC_000004.12:g.121855557G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ser178Thr	rs750684046	missense variant	-	NC_000004.12:g.121855558A>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Met181Ter	RCV000638362	frameshift	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121855547_121855548insTT	ClinVar
BBS7	Q8IWZ6	p.Met181Ile	rs1278566552	missense variant	-	NC_000004.12:g.121855547C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Met181Ile	rs1278566552	missense variant	-	NC_000004.12:g.121855547C>A	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Met181Leu	rs761537531	missense variant	-	NC_000004.12:g.121855549T>G	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Glu185Ala	rs776448284	missense variant	-	NC_000004.12:g.121855536T>G	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Pro187Ser	rs1257012888	missense variant	-	NC_000004.12:g.121855531G>A	gnomAD
BBS7	Q8IWZ6	p.Pro189Leu	rs1327487618	missense variant	-	NC_000004.12:g.121855524G>A	TOPMed
BBS7	Q8IWZ6	p.Pro190Leu	rs202073702	missense variant	-	NC_000004.12:g.121855521G>A	1000Genomes
BBS7	Q8IWZ6	p.Thr191Ser	rs771779526	missense variant	-	NC_000004.12:g.121855518G>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr191Ala	rs775558959	missense variant	-	NC_000004.12:g.121855519T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val192Leu	rs1333553284	missense variant	-	NC_000004.12:g.121855516C>G	TOPMed
BBS7	Q8IWZ6	p.Ala194Thr	rs373658912	missense variant	-	NC_000004.12:g.121855510C>T	ESP,ExAC,gnomAD
BBS7	Q8IWZ6	p.Leu195Pro	rs1333438376	missense variant	-	NC_000004.12:g.121855506A>G	TOPMed,gnomAD
BBS7	Q8IWZ6	p.His196Arg	rs886059054	missense variant	-	NC_000004.12:g.121855503T>C	-
BBS7	Q8IWZ6	p.His196Arg	RCV000327791	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121855503T>C	ClinVar
BBS7	Q8IWZ6	p.Asn197Ser	rs770553026	missense variant	-	NC_000004.12:g.121855500T>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly198Val	COSM447305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121855497C>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Gly201Ser	rs768882262	missense variant	-	NC_000004.12:g.121855489C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly201Asp	rs1360720069	missense variant	-	NC_000004.12:g.121854820C>T	TOPMed
BBS7	Q8IWZ6	p.Gly204Glu	rs772709822	missense variant	-	NC_000004.12:g.121854811C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly204Ala	COSM732791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121854811C>G	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Glu205Gly	rs1253226021	missense variant	-	NC_000004.12:g.121854808T>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Asp206Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121854805T>A	NCI-TCGA
BBS7	Q8IWZ6	p.Asp206Ala	rs769131424	missense variant	-	NC_000004.12:g.121854805T>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Leu207Phe	rs747360680	missense variant	-	NC_000004.12:g.121854803G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Leu208Trp	rs780552411	missense variant	-	NC_000004.12:g.121854799A>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr211Ile	rs119466002	missense variant	-	NC_000004.12:g.121854790G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Thr211Ile	RCV000003152	missense variant	Bardet-Biedl syndrome 1/7, digenic	NC_000004.12:g.121854790G>A	ClinVar
BBS7	Q8IWZ6	p.Thr211Ile	RCV000456825	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121854790G>A	ClinVar
BBS7	Q8IWZ6	p.Thr211Ala	rs1287944832	missense variant	-	NC_000004.12:g.121854791T>C	TOPMed
BBS7	Q8IWZ6	p.Ser212Leu	rs147752059	missense variant	-	NC_000004.12:g.121854787G>A	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Ser212Ter	rs147752059	stop gained	-	NC_000004.12:g.121854787G>C	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly214Arg	rs1226167451	missense variant	-	NC_000004.12:g.121854782C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly214Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121854782C>G	NCI-TCGA
BBS7	Q8IWZ6	p.Lys215Thr	rs757258740	missense variant	-	NC_000004.12:g.121854778T>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ala217Val	rs370510563	missense variant	-	NC_000004.12:g.121854772G>A	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ala217Gly	rs370510563	missense variant	-	NC_000004.12:g.121854772G>C	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ala217Glu	rs370510563	missense variant	-	NC_000004.12:g.121854772G>T	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ala217Ter	RCV000339724	frameshift	-	NC_000004.12:g.121854773dup	ClinVar
BBS7	Q8IWZ6	p.Leu218Arg	rs752476848	missense variant	-	NC_000004.12:g.121854769A>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile219Thr	rs1431713525	missense variant	-	NC_000004.12:g.121854766A>G	gnomAD
BBS7	Q8IWZ6	p.Gln220His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121854762C>G	NCI-TCGA
BBS7	Q8IWZ6	p.Ile221Val	rs751522255	missense variant	-	NC_000004.12:g.121854761T>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile221Phe	rs751522255	missense variant	-	NC_000004.12:g.121854761T>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Thr222Ala	rs374261135	missense variant	-	NC_000004.12:g.121854758T>C	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Lys225Glu	rs1002646247	missense variant	-	NC_000004.12:g.121854749T>C	TOPMed
BBS7	Q8IWZ6	p.Val227Ala	rs1191845801	missense variant	-	NC_000004.12:g.121854742A>G	TOPMed
BBS7	Q8IWZ6	p.Arg228Leu	rs369866009	missense variant	-	NC_000004.12:g.121854739C>A	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg228Cys	rs762367354	missense variant	-	NC_000004.12:g.121854740G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg228Gly	rs762367354	missense variant	-	NC_000004.12:g.121854740G>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg228His	rs369866009	missense variant	-	NC_000004.12:g.121854739C>T	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg228His	RCV000638354	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121854739C>T	ClinVar
BBS7	Q8IWZ6	p.Trp230Ter	rs377194859	stop gained	-	NC_000004.12:g.121854732C>T	ESP,ExAC,gnomAD
BBS7	Q8IWZ6	p.Trp230Arg	rs1173134997	missense variant	-	NC_000004.12:g.121854734A>G	TOPMed
BBS7	Q8IWZ6	p.Glu231Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121854729T>G	NCI-TCGA
BBS7	Q8IWZ6	p.Lys236Asn	rs1187515191	missense variant	-	NC_000004.12:g.121854714T>G	gnomAD
BBS7	Q8IWZ6	p.Lys237Thr	rs1475525357	missense variant	-	NC_000004.12:g.121854712T>G	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Lys237Ter	RCV000003153	frameshift	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121854711_121854714del	ClinVar
BBS7	Q8IWZ6	p.Arg238Ter	RCV000424630	frameshift	-	NC_000004.12:g.121854707_121854708CT[1]	ClinVar
BBS7	Q8IWZ6	p.Arg238Ter	RCV000820069	frameshift	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121854707_121854708CT[1]	ClinVar
BBS7	Q8IWZ6	p.Gly240Ser	rs775790564	missense variant	-	NC_000004.12:g.121854704C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly240Val	rs761403504	missense variant	-	NC_000004.12:g.121853086C>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly240Asp	rs761403504	missense variant	-	NC_000004.12:g.121853086C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly240Asp	RCV000625890	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121853086C>T	ClinVar
BBS7	Q8IWZ6	p.Ile241Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121853084T>C	NCI-TCGA
BBS7	Q8IWZ6	p.Cys243Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121853077C>A	NCI-TCGA
BBS7	Q8IWZ6	p.Cys243Tyr	rs727503821	missense variant	-	NC_000004.12:g.121853077C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Cys243Tyr	RCV000152845	missense variant	-	NC_000004.12:g.121853077C>T	ClinVar
BBS7	Q8IWZ6	p.Asp245Val	COSM3993427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121853071T>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Ser246Arg	rs1379710604	missense variant	-	NC_000004.12:g.121853067G>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser246Asn	rs1444684339	missense variant	-	NC_000004.12:g.121853068C>T	gnomAD
BBS7	Q8IWZ6	p.Ile249Thr	rs767905893	missense variant	-	NC_000004.12:g.121853059A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile249Asn	rs767905893	missense variant	-	NC_000004.12:g.121853059A>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val250Leu	rs759886973	missense variant	-	NC_000004.12:g.121853057C>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly251Asp	rs774976887	missense variant	-	NC_000004.12:g.121853053C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly251Val	rs774976887	missense variant	-	NC_000004.12:g.121853053C>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly253Glu	COSM3599633	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121853047C>T	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Lys255Ter	RCV000782280	nonsense	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121853042T>A	ClinVar
BBS7	Q8IWZ6	p.Asp256Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121853039C>A	NCI-TCGA
BBS7	Q8IWZ6	p.Val259Leu	rs1395330140	missense variant	-	NC_000004.12:g.121853030C>G	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val259Ile	rs1395330140	missense variant	-	NC_000004.12:g.121853030C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Asp262Glu	rs1437278443	missense variant	-	NC_000004.12:g.121853019A>T	gnomAD
BBS7	Q8IWZ6	p.Gly264Arg	rs932897330	missense variant	-	NC_000004.12:g.121853015C>T	TOPMed
BBS7	Q8IWZ6	p.Val266Ala	rs748422861	missense variant	-	NC_000004.12:g.121853008A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val268Leu	rs1482925843	missense variant	-	NC_000004.12:g.121853003C>G	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser270Asn	rs1429722382	missense variant	-	NC_000004.12:g.121852996C>T	TOPMed
BBS7	Q8IWZ6	p.Asp272Asn	rs1348810042	missense variant	-	NC_000004.12:g.121852991C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ala274Gly	rs754878470	missense variant	-	NC_000004.12:g.121852984G>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asn275Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121852982T>A	NCI-TCGA
BBS7	Q8IWZ6	p.Pro277Ser	rs746723917	missense variant	-	NC_000004.12:g.121852976G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val278Ile	rs780044351	missense variant	-	NC_000004.12:g.121852973C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Arg280Leu	COSM732792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121852966C>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Arg280Ter	rs151275562	stop gained	-	NC_000004.12:g.121852967G>A	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg280Gln	rs749970544	missense variant	-	NC_000004.12:g.121852966C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Phe281Tyr	rs1377686134	missense variant	-	NC_000004.12:g.121852963A>T	gnomAD
BBS7	Q8IWZ6	p.Asp282Gly	rs764774373	missense variant	-	NC_000004.12:g.121852960T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp282His	COSM4121705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121852961C>G	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Asp282Tyr	rs1315118114	missense variant	-	NC_000004.12:g.121852961C>A	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gln283Glu	rs753552050	missense variant	-	NC_000004.12:g.121852958G>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Met284Lys	rs1380142031	missense variant	-	NC_000004.12:g.121848927A>T	gnomAD
BBS7	Q8IWZ6	p.Met284Ile	COSM69803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121848926C>G	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Met284Ile	rs771877302	missense variant	-	NC_000004.12:g.121848926C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ser288Asn	rs750276510	missense variant	-	NC_000004.12:g.121848915C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val289Ile	rs200770952	missense variant	-	NC_000004.12:g.121848913C>T	1000Genomes,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val289Ile	RCV000180708	missense variant	-	NC_000004.12:g.121848913C>T	ClinVar
BBS7	Q8IWZ6	p.Thr290Ile	rs1220596256	missense variant	-	NC_000004.12:g.121848909G>A	TOPMed
BBS7	Q8IWZ6	p.Thr290Ala	rs777437511	missense variant	-	NC_000004.12:g.121848910T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile292Val	rs755678035	missense variant	-	NC_000004.12:g.121848904T>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gln293Pro	rs889417696	missense variant	-	NC_000004.12:g.121848900T>G	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gln293Ter	rs752375455	stop gained	-	NC_000004.12:g.121848901G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly298Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121848885C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Lys299Glu	rs1275186434	missense variant	-	NC_000004.12:g.121848883T>C	gnomAD
BBS7	Q8IWZ6	p.Ser301Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121848876C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Ser301Ile	rs765782447	missense variant	-	NC_000004.12:g.121848876C>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Tyr302Cys	rs1214037244	missense variant	-	NC_000004.12:g.121848873T>C	TOPMed
BBS7	Q8IWZ6	p.Asp303Val	rs1261951183	missense variant	-	NC_000004.12:g.121848870T>A	TOPMed
BBS7	Q8IWZ6	p.Ile305Val	rs761989949	missense variant	-	NC_000004.12:g.121848865T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val306Met	rs768945074	missense variant	-	NC_000004.12:g.121848862C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val306Ala	rs373378747	missense variant	-	NC_000004.12:g.121848861A>G	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val306Met	rs768945074	missense variant	-	NC_000004.12:g.121848862C>T	NCI-TCGA,NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Val307Met	rs775748328	missense variant	-	NC_000004.12:g.121848859C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ser308Cys	rs936386471	missense variant	-	NC_000004.12:g.121848855G>C	TOPMed
BBS7	Q8IWZ6	p.Thr309Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121848852G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Gly312Ala	rs1002315435	missense variant	-	NC_000004.12:g.121847506C>G	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly312Val	rs1002315435	missense variant	-	NC_000004.12:g.121847506C>A	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val314Ile	rs750750883	missense variant	-	NC_000004.12:g.121847501C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val314Gly	rs765901400	missense variant	-	NC_000004.12:g.121847500A>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val314Ala	rs765901400	missense variant	-	NC_000004.12:g.121847500A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr315Ile	rs1488474028	missense variant	-	NC_000004.12:g.121847497G>A	TOPMed
BBS7	Q8IWZ6	p.Leu317Val	rs869025207	missense variant	-	NC_000004.12:g.121847492G>C	-
BBS7	Q8IWZ6	p.Leu317Val	RCV000207525	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121847492G>C	ClinVar
BBS7	Q8IWZ6	p.Pro321Ser	rs1194745032	missense variant	-	NC_000004.12:g.121847480G>A	TOPMed
BBS7	Q8IWZ6	p.Ile322Val	rs762359988	missense variant	-	NC_000004.12:g.121847477T>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.His323Arg	RCV000003151	missense variant	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121847473T>C	ClinVar
BBS7	Q8IWZ6	p.His323Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121847474G>T	NCI-TCGA
BBS7	Q8IWZ6	p.His323Arg	rs119466001	missense variant	-	NC_000004.12:g.121847473T>C	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.His323Gln	rs1438970200	missense variant	-	NC_000004.12:g.121847472A>T	gnomAD
BBS7	Q8IWZ6	p.Lys324Glu	rs1178384559	missense variant	-	NC_000004.12:g.121847471T>C	TOPMed
BBS7	Q8IWZ6	p.Glu325Gly	rs1255872676	missense variant	-	NC_000004.12:g.121847467T>C	gnomAD
BBS7	Q8IWZ6	p.Ser326Gly	rs863224815	missense variant	-	NC_000004.12:g.121847465T>C	-
BBS7	Q8IWZ6	p.Ser326Gly	RCV000198157	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121847465T>C	ClinVar
BBS7	Q8IWZ6	p.Gly327Glu	rs898599136	missense variant	-	NC_000004.12:g.121847461C>T	TOPMed
BBS7	Q8IWZ6	p.Pro328Gln	rs778714139	missense variant	-	NC_000004.12:g.121847458G>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gly329Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.121847456C>A	NCI-TCGA
BBS7	Q8IWZ6	p.Gly329Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121847455C>A	NCI-TCGA
BBS7	Q8IWZ6	p.Gly329Glu	rs760802586	missense variant	-	NC_000004.12:g.121847455C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile334Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121847440A>C	NCI-TCGA
BBS7	Q8IWZ6	p.Gln336Arg	rs1352314539	missense variant	-	NC_000004.12:g.121847434T>C	gnomAD
BBS7	Q8IWZ6	p.Gln336His	COSM279131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121847433C>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Glu337Gly	rs1447086082	missense variant	-	NC_000004.12:g.121847431T>C	gnomAD
BBS7	Q8IWZ6	p.Met338Lys	rs767716459	missense variant	-	NC_000004.12:g.121847428A>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asn340Lys	rs759327238	missense variant	-	NC_000004.12:g.121847421A>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile342Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121847416A>T	NCI-TCGA
BBS7	Q8IWZ6	p.Ser343Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121847413G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Arg346Trp	rs533535422	missense variant	-	NC_000004.12:g.121847405G>A	1000Genomes,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg346Gln	rs370716101	missense variant	-	NC_000004.12:g.121847404C>T	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg346Trp	rs533535422	missense variant	-	NC_000004.12:g.121847405G>A	NCI-TCGA,NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Arg346Gln	RCV000173926	missense variant	-	NC_000004.12:g.121847404C>T	ClinVar
BBS7	Q8IWZ6	p.Asn347Ser	rs1343706484	missense variant	-	NC_000004.12:g.121845694T>C	gnomAD
BBS7	Q8IWZ6	p.Glu348Gly	rs575431546	missense variant	-	NC_000004.12:g.121845691T>C	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Leu349Ser	rs769707690	missense variant	-	NC_000004.12:g.121845688A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.His351Arg	rs940315256	missense variant	-	NC_000004.12:g.121845682T>C	TOPMed
BBS7	Q8IWZ6	p.Gln353Ter	COSM1426636	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.121845677G>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Gln353Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121845677G>T	NCI-TCGA
BBS7	Q8IWZ6	p.Tyr354Ter	RCV000296638	nonsense	-	NC_000004.12:g.121845671_121845672TA[1]	ClinVar
BBS7	Q8IWZ6	p.TyrLys354Ter	rs773139166	stop gained	-	NC_000004.12:g.121845673_121845674del	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Tyr354Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121845673T>A	NCI-TCGA
BBS7	Q8IWZ6	p.Tyr354Cys	rs1418988571	missense variant	-	NC_000004.12:g.121845673T>C	gnomAD
BBS7	Q8IWZ6	p.Tyr354Ter	RCV000696169	nonsense	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121845671_121845672TA[1]	ClinVar
BBS7	Q8IWZ6	p.Lys355Asn	rs1003833738	missense variant	-	NC_000004.12:g.121845669C>G	TOPMed
BBS7	Q8IWZ6	p.Lys355Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121845671T>G	NCI-TCGA
BBS7	Q8IWZ6	p.Leu357Val	rs906692940	missense variant	-	NC_000004.12:g.121845665A>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gln358Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121845661T>C	NCI-TCGA
BBS7	Q8IWZ6	p.Gln358Ter	rs768257998	stop gained	-	NC_000004.12:g.121845662G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Glu359Gln	rs1341476530	missense variant	-	NC_000004.12:g.121845659C>G	gnomAD
BBS7	Q8IWZ6	p.Glu361Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121845651C>A	NCI-TCGA
BBS7	Q8IWZ6	p.Gln364Pro	rs746699644	missense variant	-	NC_000004.12:g.121845643T>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gln364Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121845644G>C	NCI-TCGA
BBS7	Q8IWZ6	p.Gln365Leu	rs1447092711	missense variant	-	NC_000004.12:g.121845640T>A	gnomAD
BBS7	Q8IWZ6	p.Ser366Phe	rs200373010	missense variant	-	NC_000004.12:g.121845637G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gln368Ter	rs993848396	stop gained	-	NC_000004.12:g.121845632G>A	TOPMed
BBS7	Q8IWZ6	p.Ser369Leu	rs757752432	missense variant	-	NC_000004.12:g.121845628G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser374Ter	rs1273560318	stop gained	-	NC_000004.12:g.121845613G>C	gnomAD
BBS7	Q8IWZ6	p.Ala375Thr	rs896927309	missense variant	-	NC_000004.12:g.121845611C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ala375Glu	rs749603454	missense variant	-	NC_000004.12:g.121845610G>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ala375Val	rs749603454	missense variant	-	NC_000004.12:g.121845610G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser378Phe	COSM3599632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121845601G>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Phe379Ser	rs778142384	missense variant	-	NC_000004.12:g.121845598A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Phe379Val	rs483352770	missense variant	-	NC_000004.12:g.121845599A>C	-
BBS7	Q8IWZ6	p.Phe379Val	RCV000087255	missense variant	-	NC_000004.12:g.121845599A>C	ClinVar
BBS7	Q8IWZ6	p.Gly380Cys	COSM4405481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121845596C>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Ile381Thr	rs374288473	missense variant	-	NC_000004.12:g.121845592A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Phe385Cys	COSM3599631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121845580A>C	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Leu387Val	rs1463453322	missense variant	-	NC_000004.12:g.121845575G>C	gnomAD
BBS7	Q8IWZ6	p.Asn388His	rs1395880922	missense variant	-	NC_000004.12:g.121845572T>G	gnomAD
BBS7	Q8IWZ6	p.Asn388Ser	rs755048211	missense variant	-	NC_000004.12:g.121845571T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp391Glu	rs1357945398	missense variant	-	NC_000004.12:g.121845561A>T	gnomAD
BBS7	Q8IWZ6	p.Ala392Thr	rs751840085	missense variant	-	NC_000004.12:g.121845560C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ser395Asn	rs889491713	missense variant	-	NC_000004.12:g.121845550C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser395Gly	rs766531821	missense variant	-	NC_000004.12:g.121845551T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile397Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121845543G>C	NCI-TCGA
BBS7	Q8IWZ6	p.Glu399Ala	rs1469727579	missense variant	-	NC_000004.12:g.121845538T>G	gnomAD
BBS7	Q8IWZ6	p.Glu399Asp	rs1273741713	missense variant	-	NC_000004.12:g.121845537C>G	gnomAD
BBS7	Q8IWZ6	p.Val400Ile	rs750193367	missense variant	-	NC_000004.12:g.121845536C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gln401Lys	rs765109765	missense variant	-	NC_000004.12:g.121845533G>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ala403Thr	rs761858167	missense variant	-	NC_000004.12:g.121845527C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile404Thr	rs180798213	missense variant	-	NC_000004.12:g.121845523A>G	1000Genomes,gnomAD
BBS7	Q8IWZ6	p.Asp405Gly	rs776401951	missense variant	-	NC_000004.12:g.121845520T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val407Ile	rs768345924	missense variant	-	NC_000004.12:g.121845515C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile409Met	rs775291495	missense variant	-	NC_000004.12:g.121845507T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile409Met	rs775291495	missense variant	-	NC_000004.12:g.121845507T>C	NCI-TCGA,NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Asp412Gly	rs111442398	missense variant	-	NC_000004.12:g.121843997T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Asp412Tyr	RCV000333622	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121843998C>A	ClinVar
BBS7	Q8IWZ6	p.Asp412Gly	RCV000762107	missense variant	-	NC_000004.12:g.121843997T>C	ClinVar
BBS7	Q8IWZ6	p.Asp412Tyr	rs758567781	missense variant	-	NC_000004.12:g.121843998C>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Asp412Glu	rs761509035	missense variant	-	NC_000004.12:g.121843996A>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val413Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121843994A>G	NCI-TCGA
BBS7	Q8IWZ6	p.Ile415Val	rs1299054607	missense variant	-	NC_000004.12:g.121843989T>C	gnomAD
BBS7	Q8IWZ6	p.Ile415Thr	rs1402786625	missense variant	-	NC_000004.12:g.121843988A>G	TOPMed
BBS7	Q8IWZ6	p.Leu417Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121843983A>C	NCI-TCGA
BBS7	Q8IWZ6	p.Leu417Phe	rs1447805758	missense variant	-	NC_000004.12:g.121843981T>A	gnomAD
BBS7	Q8IWZ6	p.Leu418Val	rs1374407416	missense variant	-	NC_000004.12:g.121843980G>C	gnomAD
BBS7	Q8IWZ6	p.Asp421Glu	rs146412602	missense variant	-	NC_000004.12:g.121843969A>T	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser424Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121843961G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Ser428Asn	rs1354556720	missense variant	-	NC_000004.12:g.121843949C>T	gnomAD
BBS7	Q8IWZ6	p.Phe429Leu	rs760264160	missense variant	-	NC_000004.12:g.121843945A>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Phe429Val	rs149880614	missense variant	-	NC_000004.12:g.121843947A>C	ESP
BBS7	Q8IWZ6	p.Phe429Cys	rs764064171	missense variant	-	NC_000004.12:g.121843946A>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Phe429Val	RCV000494276	missense variant	-	NC_000004.12:g.121843947A>C	ClinVar
BBS7	Q8IWZ6	p.Ser430Asn	rs1410107664	missense variant	-	NC_000004.12:g.121843943C>T	gnomAD
BBS7	Q8IWZ6	p.Ser431Arg	rs1265041299	missense variant	-	NC_000004.12:g.121843941T>G	gnomAD
BBS7	Q8IWZ6	p.Asp433Tyr	rs1177500936	missense variant	-	NC_000004.12:g.121843935C>A	gnomAD
BBS7	Q8IWZ6	p.Ser434Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121843932A>T	NCI-TCGA
BBS7	Q8IWZ6	p.Ser434Pro	rs775096414	missense variant	-	NC_000004.12:g.121843932A>G	ExAC
BBS7	Q8IWZ6	p.Asp438Asn	rs758958242	missense variant	-	NC_000004.12:g.121839690C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp438Tyr	rs758958242	missense variant	-	NC_000004.12:g.121839690C>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asn439Ser	rs1213576339	missense variant	-	NC_000004.12:g.121839686T>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Leu442Pro	rs372278767	missense variant	-	NC_000004.12:g.121839677A>G	ESP,ExAC,gnomAD
BBS7	Q8IWZ6	p.Ala443Thr	rs762270446	missense variant	-	NC_000004.12:g.121839675C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Thr444Ile	rs1240144741	missense variant	-	NC_000004.12:g.121839671G>A	TOPMed
BBS7	Q8IWZ6	p.Tyr445Cys	rs776931328	missense variant	-	NC_000004.12:g.121839668T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Tyr445Ter	rs1234317489	stop gained	-	NC_000004.12:g.121839667A>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg446Gln	rs372685495	missense variant	-	NC_000004.12:g.121839665C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Arg446Gln	rs372685495	missense variant	-	NC_000004.12:g.121839665C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg446Trp	rs768987725	missense variant	-	NC_000004.12:g.121839666G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg446Trp	rs768987725	missense variant	-	NC_000004.12:g.121839666G>A	NCI-TCGA,NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Gln448His	rs1473005529	missense variant	-	NC_000004.12:g.121839658C>G	TOPMed
BBS7	Q8IWZ6	p.Thr451Ile	rs1363452321	missense variant	-	NC_000004.12:g.121839650G>A	gnomAD
BBS7	Q8IWZ6	p.Thr452Ile	rs1164719652	missense variant	-	NC_000004.12:g.121839647G>A	TOPMed
BBS7	Q8IWZ6	p.Arg453Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121839644C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Leu456His	rs1392235356	missense variant	-	NC_000004.12:g.121839635A>T	gnomAD
BBS7	Q8IWZ6	p.Arg459Gly	rs150743868	missense variant	-	NC_000004.12:g.121835280G>C	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg459Ser	rs150743868	missense variant	-	NC_000004.12:g.121835280G>T	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg459His	rs764507388	missense variant	-	NC_000004.12:g.121835279C>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg459Cys	rs150743868	missense variant	-	NC_000004.12:g.121835280G>A	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg459Cys	rs150743868	missense variant	-	NC_000004.12:g.121835280G>A	NCI-TCGA,NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Arg459Cys	RCV000787793	missense variant	Retinitis pigmentosa (RP)	NC_000004.12:g.121835280G>A	ClinVar
BBS7	Q8IWZ6	p.Ser460Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.121835276G>C	NCI-TCGA
BBS7	Q8IWZ6	p.Ser460Leu	rs761013253	missense variant	-	NC_000004.12:g.121835276G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ser460Leu	rs761013253	missense variant	-	NC_000004.12:g.121835276G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Ile461Val	rs141224967	missense variant	-	NC_000004.12:g.121835274T>C	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly463Ser	rs772391575	missense variant	-	NC_000004.12:g.121835268C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gln464Pro	rs940530839	missense variant	-	NC_000004.12:g.121835264T>G	TOPMed
BBS7	Q8IWZ6	p.Tyr465Cys	rs1274919687	missense variant	-	NC_000004.12:g.121835261T>C	gnomAD
BBS7	Q8IWZ6	p.Gly466Asp	COSM4121704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121835258C>T	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Thr467Ala	rs774242550	missense variant	-	NC_000004.12:g.121835256T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ala470Thr	rs1214474974	missense variant	-	NC_000004.12:g.121835247C>T	gnomAD
BBS7	Q8IWZ6	p.Ala470Val	rs1305038633	missense variant	-	NC_000004.12:g.121835246G>A	gnomAD
BBS7	Q8IWZ6	p.Tyr471Ter	RCV000638355	nonsense	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121835242A>T	ClinVar
BBS7	Q8IWZ6	p.Tyr471Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121835243T>C	NCI-TCGA
BBS7	Q8IWZ6	p.Tyr471Ter	rs991365297	stop gained	-	NC_000004.12:g.121835242A>T	-
BBS7	Q8IWZ6	p.Pro474Ser	rs1337215882	missense variant	-	NC_000004.12:g.121835235G>A	gnomAD
BBS7	Q8IWZ6	p.Pro474Arg	rs771018739	missense variant	-	NC_000004.12:g.121835234G>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg475Ile	COSM1050584	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121835231C>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Arg475Gly	rs749558405	missense variant	-	NC_000004.12:g.121835232T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Gln477Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.121835226G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Pro478His	COSM3974691	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121835222G>T	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Cys481Tyr	RCV000368544	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121835213C>T	ClinVar
BBS7	Q8IWZ6	p.Cys481Tyr	rs886059053	missense variant	-	NC_000004.12:g.121835213C>T	gnomAD
BBS7	Q8IWZ6	p.Gln482Arg	rs778131042	missense variant	-	NC_000004.12:g.121835210T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val483Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121835208C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Arg484Pro	rs200720761	missense variant	-	NC_000004.12:g.121835204C>G	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Arg484His	rs200720761	missense variant	-	NC_000004.12:g.121835204C>T	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Arg484Cys	rs747889031	missense variant	-	NC_000004.12:g.121835205G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg484His	rs200720761	missense variant	-	NC_000004.12:g.121835204C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Gln485Arg	rs751492575	missense variant	-	NC_000004.12:g.121835201T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Tyr486Ter	rs1470030897	stop gained	-	NC_000004.12:g.121835197G>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Tyr486Ter	RCV000778718	nonsense	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121835197G>T	ClinVar
BBS7	Q8IWZ6	p.His487Pro	rs1362604237	missense variant	-	NC_000004.12:g.121835195T>G	gnomAD
BBS7	Q8IWZ6	p.Ile488Asn	rs907917156	missense variant	-	NC_000004.12:g.121835192A>T	TOPMed
BBS7	Q8IWZ6	p.Lys489Arg	rs575924592	missense variant	-	NC_000004.12:g.121835189T>C	TOPMed
BBS7	Q8IWZ6	p.Lys489Arg	rs575924592	missense variant	-	NC_000004.12:g.121835189T>C	NCI-TCGA,NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Pro490Leu	rs779471980	missense variant	-	NC_000004.12:g.121835186G>A	NCI-TCGA,NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Pro490Leu	rs779471980	missense variant	-	NC_000004.12:g.121835186G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.His494Arg	COSM4932724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121835174T>C	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Arg496Ile	rs750133083	missense variant	-	NC_000004.12:g.121835168C>A	NCI-TCGA,NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Arg496Ile	rs750133083	missense variant	-	NC_000004.12:g.121835168C>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.His498Tyr	rs761031900	missense variant	-	NC_000004.12:g.121835163G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.His502Arg	rs114718913	missense variant	-	NC_000004.12:g.121835150T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.His502Arg	RCV000709647	missense variant	Bardet-Biedl syndrome 1 (BBS1)	NC_000004.12:g.121835150T>C	ClinVar
BBS7	Q8IWZ6	p.Pro505Leu	rs773379860	missense variant	-	NC_000004.12:g.121833393G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Pro505Ser	rs763160690	missense variant	-	NC_000004.12:g.121833394G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Met506Thr	rs200788672	missense variant	-	NC_000004.12:g.121833390A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asn507Ser	COSM268746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121833387T>C	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Thr508Ile	rs547777095	missense variant	-	NC_000004.12:g.121833384G>A	1000Genomes
BBS7	Q8IWZ6	p.Leu509Met	rs768395699	missense variant	-	NC_000004.12:g.121833382G>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr512Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121833372G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Gly513Ser	rs1465262524	missense variant	-	NC_000004.12:g.121833370C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gly513Arg	rs1465262524	missense variant	-	NC_000004.12:g.121833370C>G	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Phe515Leu	COSM6166128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121833362G>C	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Ala518Ser	rs1252305452	missense variant	-	NC_000004.12:g.121833355C>A	gnomAD
BBS7	Q8IWZ6	p.Val520Ile	rs1211533033	missense variant	-	NC_000004.12:g.121833349C>T	gnomAD
BBS7	Q8IWZ6	p.His521Tyr	rs911151078	missense variant	-	NC_000004.12:g.121833346G>A	TOPMed
BBS7	Q8IWZ6	p.Val524Met	rs1232896835	missense variant	-	NC_000004.12:g.121833337C>T	TOPMed
BBS7	Q8IWZ6	p.Val525Gly	rs746759579	missense variant	-	NC_000004.12:g.121833333A>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Cys527ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.121833328A>-	NCI-TCGA
BBS7	Q8IWZ6	p.Leu528Val	rs779858648	missense variant	-	NC_000004.12:g.121833325G>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Pro529Ser	rs771957843	missense variant	-	NC_000004.12:g.121833322G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Glu530Gly	rs745404021	missense variant	-	NC_000004.12:g.121833318T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val531Ala	rs778439860	missense variant	-	NC_000004.12:g.121833315A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Lys534Thr	rs1445596717	missense variant	-	NC_000004.12:g.121833306T>G	TOPMed
BBS7	Q8IWZ6	p.Pro535Thr	RCV000263459	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121833304G>T	ClinVar
BBS7	Q8IWZ6	p.Pro535Thr	rs143700362	missense variant	-	NC_000004.12:g.121833304G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Cys540Tyr	COSM732794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121833288C>T	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Val541Gly	rs1350799770	missense variant	-	NC_000004.12:g.121833285A>C	gnomAD
BBS7	Q8IWZ6	p.Phe543Leu	COSM4121703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121833278A>C	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Phe543Ile	rs1328662883	missense variant	-	NC_000004.12:g.121833280A>T	gnomAD
BBS7	Q8IWZ6	p.Thr548Ile	rs1408961454	missense variant	-	NC_000004.12:g.121833264G>A	gnomAD
BBS7	Q8IWZ6	p.Phe549Ser	rs755304231	missense variant	-	NC_000004.12:g.121833261A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp551Glu	rs1388581637	missense variant	-	NC_000004.12:g.121833254A>T	TOPMed
BBS7	Q8IWZ6	p.Gln553Ter	COSM4121702	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.121833250G>A	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Gln553Glu	rs1394015094	missense variant	-	NC_000004.12:g.121833250G>C	gnomAD
BBS7	Q8IWZ6	p.Leu554Phe	rs960715669	missense variant	-	NC_000004.12:g.121833247G>A	TOPMed
BBS7	Q8IWZ6	p.Ser556Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121833240C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Thr557Ile	rs1489448712	missense variant	-	NC_000004.12:g.121833237G>A	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Arg559Ser	rs748768695	missense variant	-	NC_000004.12:g.121828728T>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Glu562Asp	rs777324298	missense variant	-	NC_000004.12:g.121828719C>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Glu562Gln	rs1344909042	missense variant	-	NC_000004.12:g.121828721C>G	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val564Leu	rs1313233395	missense variant	-	NC_000004.12:g.121828715C>G	gnomAD
BBS7	Q8IWZ6	p.Val564Ala	rs1463083357	missense variant	-	NC_000004.12:g.121828714A>G	TOPMed
BBS7	Q8IWZ6	p.Phe565Leu	rs1300498197	missense variant	-	NC_000004.12:g.121828710A>T	TOPMed
BBS7	Q8IWZ6	p.Asp568Asn	rs1352712576	missense variant	-	NC_000004.12:g.121828703C>T	gnomAD
BBS7	Q8IWZ6	p.Asp568Glu	rs747737287	missense variant	-	NC_000004.12:g.121828701G>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asn569Ser	rs1415912302	missense variant	-	NC_000004.12:g.121828699T>C	TOPMed
BBS7	Q8IWZ6	p.Ser571Ter	rs878853352	stop gained	-	NC_000004.12:g.121828692_121828693delinsTCT	-
BBS7	Q8IWZ6	p.Ser571TerThr	rs776691595	stop gained	-	NC_000004.12:g.121828693_121828694insTCT	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ser571Tyr	rs1295543172	missense variant	-	NC_000004.12:g.121828693G>T	TOPMed
BBS7	Q8IWZ6	p.Ser571Ter	RCV000225449	nonsense	Retinal dystrophy	NC_000004.12:g.121828692_121828693delinsTCT	ClinVar
BBS7	Q8IWZ6	p.Thr572Ile	rs1309413444	missense variant	-	NC_000004.12:g.121828690G>A	TOPMed
BBS7	Q8IWZ6	p.Ile573Val	rs751029709	missense variant	-	NC_000004.12:g.121828688T>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser574Cys	rs765782762	missense variant	-	NC_000004.12:g.121828684G>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ser574Phe	rs765782762	missense variant	-	NC_000004.12:g.121828684G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Lys577Gln	rs200953128	missense variant	-	NC_000004.12:g.121828676T>G	1000Genomes,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Lys577Glu	rs200953128	missense variant	-	NC_000004.12:g.121828676T>C	1000Genomes,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Val579Ala	rs764244818	missense variant	-	NC_000004.12:g.121828669A>G	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Leu580Arg	rs761005946	missense variant	-	NC_000004.12:g.121828666A>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr585Ala	rs775655387	missense variant	-	NC_000004.12:g.121828652T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr585Ile	rs767363576	missense variant	-	NC_000004.12:g.121828651G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile589Val	rs1429923689	missense variant	-	NC_000004.12:g.121828640T>C	TOPMed
BBS7	Q8IWZ6	p.Ile589Thr	rs1173402541	missense variant	-	NC_000004.12:g.121828639A>G	TOPMed
BBS7	Q8IWZ6	p.Ser594Pro	rs774282290	missense variant	-	NC_000004.12:g.121828625A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Glu596Asp	rs756139233	missense variant	-	NC_000004.12:g.121828504C>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Glu596Gly	rs754277167	missense variant	-	NC_000004.12:g.121828505T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Glu596Lys	rs1233058112	missense variant	-	NC_000004.12:g.121828619C>T	gnomAD
BBS7	Q8IWZ6	p.His610Asn	rs759359910	missense variant	-	NC_000004.12:g.121828464G>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Glu614Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121828452C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Tyr615Cys	rs1454342577	missense variant	-	NC_000004.12:g.121828448T>C	TOPMed
BBS7	Q8IWZ6	p.Tyr615His	rs1394048718	missense variant	-	NC_000004.12:g.121828449A>G	TOPMed
BBS7	Q8IWZ6	p.Gln616Arg	COSM4121701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121828445T>C	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Gln616His	rs751309863	missense variant	-	NC_000004.12:g.121828444C>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Leu618Pro	rs766069591	missense variant	-	NC_000004.12:g.121828439A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ala620Thr	rs773019785	missense variant	-	NC_000004.12:g.121828434C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Val623Gly	rs1193524307	missense variant	-	NC_000004.12:g.121828424A>C	gnomAD
BBS7	Q8IWZ6	p.Asp627Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121828413C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Glu631AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.121828402T>-	NCI-TCGA
BBS7	Q8IWZ6	p.Gln633His	rs774997736	missense variant	-	NC_000004.12:g.121828261C>G	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gln633His	rs774997736	missense variant	-	NC_000004.12:g.121828261C>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.His635Leu	rs1233960628	missense variant	-	NC_000004.12:g.121828256T>A	TOPMed,gnomAD
BBS7	Q8IWZ6	p.His635Arg	rs1233960628	missense variant	-	NC_000004.12:g.121828256T>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Glu636Ala	rs1286277611	missense variant	-	NC_000004.12:g.121828253T>G	gnomAD
BBS7	Q8IWZ6	p.Glu636AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.121828252_121828253insAAGGA	NCI-TCGA
BBS7	Q8IWZ6	p.Glu636Lys	rs771380744	missense variant	-	NC_000004.12:g.121828254C>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr639Met	rs773771144	missense variant	-	NC_000004.12:g.121828244G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Phe641Leu	rs748634596	missense variant	-	NC_000004.12:g.121828237A>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Phe641Leu	rs748634596	missense variant	-	NC_000004.12:g.121828237A>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Leu642Pro	rs1173638115	missense variant	-	NC_000004.12:g.121828235A>G	gnomAD
BBS7	Q8IWZ6	p.Pro644Leu	rs907255739	missense variant	-	NC_000004.12:g.121828229G>A	TOPMed
BBS7	Q8IWZ6	p.Pro644Ala	rs1453757241	missense variant	-	NC_000004.12:g.121828230G>C	gnomAD
BBS7	Q8IWZ6	p.Cys648Gly	RCV000297219	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121828218A>C	ClinVar
BBS7	Q8IWZ6	p.Cys648Gly	rs201096775	missense variant	-	NC_000004.12:g.121828218A>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile649Val	rs747314114	missense variant	-	NC_000004.12:g.121828215T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Ile649Thr	rs138212739	missense variant	-	NC_000004.12:g.121828214A>G	ESP,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Glu652Asp	rs1040978407	missense variant	-	NC_000004.12:g.121828204C>G	TOPMed
BBS7	Q8IWZ6	p.Asp654Glu	rs1257744159	missense variant	-	NC_000004.12:g.121828198A>T	gnomAD
BBS7	Q8IWZ6	p.Asp654His	rs143632090	missense variant	-	NC_000004.12:g.121828200C>G	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.His655Arg	rs1335128724	missense variant	-	NC_000004.12:g.121828196T>C	TOPMed
BBS7	Q8IWZ6	p.Leu656Pro	rs758219185	missense variant	-	NC_000004.12:g.121828193A>G	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Leu656Ter	RCV000149506	frameshift	Bardet-Biedl syndrome 7 (BBS7)	NC_000004.12:g.121828192_121828193delinsG	ClinVar
BBS7	Q8IWZ6	p.Glu658Lys	rs1044486579	missense variant	-	NC_000004.12:g.121828188C>T	TOPMed
BBS7	Q8IWZ6	p.Glu659Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.121828185C>A	NCI-TCGA
BBS7	Q8IWZ6	p.Glu659Gln	rs113786007	missense variant	-	NC_000004.12:g.121828185C>G	TOPMed
BBS7	Q8IWZ6	p.Tyr660Asp	rs765240912	missense variant	-	NC_000004.12:g.121828182A>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Tyr660His	rs765240912	missense variant	-	NC_000004.12:g.121828182A>G	ExAC,gnomAD
BBS7	Q8IWZ6	p.Tyr660Cys	rs757308523	missense variant	-	NC_000004.12:g.121828181T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Lys662Asn	rs1292881522	missense variant	-	NC_000004.12:g.121828174C>A	gnomAD
BBS7	Q8IWZ6	p.Lys662Ter	RCV000198339	frameshift	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121828172_121828174delinsA	ClinVar
BBS7	Q8IWZ6	p.Pro664Leu	rs375084239	missense variant	-	NC_000004.12:g.121828169G>A	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ala665Thr	rs980757532	missense variant	-	NC_000004.12:g.121828167C>T	TOPMed
BBS7	Q8IWZ6	p.His666Tyr	rs1342336710	missense variant	-	NC_000004.12:g.121828164G>A	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Leu667Pro	rs1334998246	missense variant	-	NC_000004.12:g.121828160A>G	gnomAD
BBS7	Q8IWZ6	p.Leu667Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121828161G>T	NCI-TCGA
BBS7	Q8IWZ6	p.Glu668Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121828158C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Tyr671Cys	rs1013002037	missense variant	-	NC_000004.12:g.121828148T>C	TOPMed
BBS7	Q8IWZ6	p.Met673Leu	rs1436556570	missense variant	-	NC_000004.12:g.121825991T>A	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Met673Val	rs1436556570	missense variant	-	NC_000004.12:g.121825991T>C	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ile674Thr	rs548020763	missense variant	-	NC_000004.12:g.121825987A>G	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Thr675Asn	rs1322004930	missense variant	-	NC_000004.12:g.121825984G>T	gnomAD
BBS7	Q8IWZ6	p.Leu677Val	rs1403176454	missense variant	-	NC_000004.12:g.121825979G>C	gnomAD
BBS7	Q8IWZ6	p.Ile679Val	rs1163284205	missense variant	-	NC_000004.12:g.121825973T>C	gnomAD
BBS7	Q8IWZ6	p.Lys681Ile	rs534408910	missense variant	-	NC_000004.12:g.121825966T>A	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Phe682Leu	rs753884144	missense variant	-	NC_000004.12:g.121825962A>C	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Phe682Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121825963A>C	NCI-TCGA
BBS7	Q8IWZ6	p.Phe684Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121825958A>C	NCI-TCGA
BBS7	Q8IWZ6	p.Gly686Asp	rs1027779461	missense variant	-	NC_000004.12:g.121825951C>T	TOPMed,gnomAD
BBS7	Q8IWZ6	p.Thr687Ile	rs764064252	missense variant	-	NC_000004.12:g.121825948G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asn688Ser	rs370656021	missense variant	-	NC_000004.12:g.121825945T>C	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Asn688Thr	rs370656021	missense variant	-	NC_000004.12:g.121825945T>G	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Asn688Ser	RCV000175491	missense variant	-	NC_000004.12:g.121825945T>C	ClinVar
BBS7	Q8IWZ6	p.Asn688Ser	RCV000168181	missense variant	Bardet-Biedl syndrome (BBS)	NC_000004.12:g.121825945T>C	ClinVar
BBS7	Q8IWZ6	p.Lys690Asn	rs377643507	missense variant	-	NC_000004.12:g.121825938T>A	ESP,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Lys692Glu	COSM4926271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121825934T>C	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Pro694Leu	rs767033569	missense variant	-	NC_000004.12:g.121825927G>A	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Pro694Ser	rs752107050	missense variant	-	NC_000004.12:g.121825928G>A	ExAC,gnomAD
BBS7	Q8IWZ6	p.Pro694Thr	rs752107050	missense variant	-	NC_000004.12:g.121825928G>T	ExAC,gnomAD
BBS7	Q8IWZ6	p.Pro694His	rs767033569	missense variant	-	NC_000004.12:g.121825927G>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Leu696Val	rs1230557549	missense variant	-	NC_000004.12:g.121825922G>C	TOPMed
BBS7	Q8IWZ6	p.Leu700Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121825910G>T	NCI-TCGA
BBS7	Q8IWZ6	p.Asp701Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121825907C>T	NCI-TCGA
BBS7	Q8IWZ6	p.Ser702Ile	rs1276357526	missense variant	-	NC_000004.12:g.121825903C>A	TOPMed
BBS7	Q8IWZ6	p.Ser702Arg	rs1229720963	missense variant	-	NC_000004.12:g.121825902A>C	gnomAD
BBS7	Q8IWZ6	p.Tyr703Cys	rs375825705	missense variant	-	NC_000004.12:g.121825900T>C	ESP,ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Gln705Arg	rs765649058	missense variant	-	NC_000004.12:g.121825894T>C	ExAC,gnomAD
BBS7	Q8IWZ6	p.Asn706Ser	rs1439080391	missense variant	-	NC_000004.12:g.121825891T>C	gnomAD
BBS7	Q8IWZ6	p.Ala707Thr	COSM1050582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121825889C>T	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Ala707Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121825888G>A	NCI-TCGA
BBS7	Q8IWZ6	p.Leu708Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121825884C>A	NCI-TCGA
BBS7	Q8IWZ6	p.Leu708Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.121825885A>G	NCI-TCGA
BBS7	Q8IWZ6	p.Ile709Leu	rs762111748	missense variant	-	NC_000004.12:g.121825883T>G	ExAC,TOPMed
BBS7	Q8IWZ6	p.Phe711Leu	COSM177283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.121825875G>T	NCI-TCGA Cosmic
BBS7	Q8IWZ6	p.Phe711Leu	rs1257462399	missense variant	-	NC_000004.12:g.121825875G>C	TOPMed
BBS7	Q8IWZ6	p.Phe712Leu	rs199782217	missense variant	-	NC_000004.12:g.121825872G>C	1000Genomes,ExAC,gnomAD
BBS7	Q8IWZ6	p.Asp713Asn	rs371449601	missense variant	-	NC_000004.12:g.121825871C>T	ESP,ExAC,gnomAD
BBS7	Q8IWZ6	p.Ala714Glu	rs775478831	missense variant	-	NC_000004.12:g.121825867G>T	ExAC,TOPMed,gnomAD
BBS7	Q8IWZ6	p.Ter716Arg	rs200470633	stop lost	-	NC_000004.12:g.121825862A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp3Asn	rs1362206875	missense variant	-	NC_000020.11:g.32358782G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln5Arg	rs1254502448	missense variant	-	NC_000020.11:g.32358789A>G	TOPMed
ASXL1	Q8IXJ9	p.Lys9Glu	rs1292736851	missense variant	-	NC_000020.11:g.32358800A>G	gnomAD
ASXL1	Q8IXJ9	p.Lys9Arg	rs886129274	missense variant	-	NC_000020.11:g.32358801A>G	TOPMed
ASXL1	Q8IXJ9	p.Ala14Val	rs1365687375	missense variant	-	NC_000020.11:g.32358816C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu15Lys	rs1464069229	missense variant	-	NC_000020.11:g.32358818G>A	TOPMed
ASXL1	Q8IXJ9	p.Arg18Ser	rs1302023145	missense variant	-	NC_000020.11:g.32358827C>A	gnomAD
ASXL1	Q8IXJ9	p.Glu22Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32366390G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu22Gly	rs775831641	missense variant	-	NC_000020.11:g.32366391A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser25Leu	rs1219695894	missense variant	-	NC_000020.11:g.32366400C>T	gnomAD
ASXL1	Q8IXJ9	p.Met29Leu	rs769223128	missense variant	-	NC_000020.11:g.32366411A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met29Val	rs769223128	missense variant	-	NC_000020.11:g.32366411A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met29Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32366412T>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Thr30Ala	rs1378562189	missense variant	-	NC_000020.11:g.32366414A>G	TOPMed
ASXL1	Q8IXJ9	p.Pro31Ser	rs1178102908	missense variant	-	NC_000020.11:g.32366417C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln33Glu	rs1192808397	missense variant	-	NC_000020.11:g.32366423C>G	TOPMed
ASXL1	Q8IXJ9	p.Leu35Met	COSM1025714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32366429C>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Val37Ile	rs1378944067	missense variant	-	NC_000020.11:g.32366435G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu39Ter	RCV000481449	frameshift	-	NC_000020.11:g.32366440dup	ClinVar
ASXL1	Q8IXJ9	p.Glu39Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32366441G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Ala40Val	rs774677279	missense variant	-	NC_000020.11:g.32366445C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu41Lys	COSM159234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32366447G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gly42Ter	COSM279013	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32366450G>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gly42Arg	COSM4391402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32366450G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Lys44Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32366456A>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu45Gln	rs143594461	missense variant	-	NC_000020.11:g.32366459G>C	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met46Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32366463T>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Met46Val	rs1404369258	missense variant	-	NC_000020.11:g.32366462A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met46Ile	rs772252001	missense variant	-	NC_000020.11:g.32366464G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser48Asn	rs567076886	missense variant	-	NC_000020.11:g.32367729G>A	1000Genomes
ASXL1	Q8IXJ9	p.Gly49Glu	rs1355901469	missense variant	-	NC_000020.11:g.32369017G>A	gnomAD
ASXL1	Q8IXJ9	p.Thr50Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32369020C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Thr50Ala	rs763956931	missense variant	-	NC_000020.11:g.32369019A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser51Tyr	rs1276613425	missense variant	-	NC_000020.11:g.32369023C>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro52Ala	rs1190203873	missense variant	-	NC_000020.11:g.32369025C>G	gnomAD
ASXL1	Q8IXJ9	p.Ala54Ser	rs867857427	missense variant	-	NC_000020.11:g.32369031G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala54Thr	rs867857427	missense variant	-	NC_000020.11:g.32369031G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys55Ser	COSM329152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32369034T>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Leu56Val	rs1426548051	missense variant	-	NC_000020.11:g.32369037C>G	TOPMed
ASXL1	Q8IXJ9	p.Leu56Ile	COSM4097537	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32369037C>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Asn57Ser	rs147225073	missense variant	-	NC_000020.11:g.32369041A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu60Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32369050T>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu68Gly	rs1214819445	missense variant	-	NC_000020.11:g.32369074A>G	TOPMed
ASXL1	Q8IXJ9	p.Leu70Trp	rs1376615013	missense variant	-	NC_000020.11:g.32369080T>G	gnomAD
ASXL1	Q8IXJ9	p.Tyr72Cys	rs778374087	missense variant	-	NC_000020.11:g.32369086A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys73Ter	RCV000578382	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32369088A>T	ClinVar
ASXL1	Q8IXJ9	p.Lys73Ter	rs1555901138	stop gained	-	NC_000020.11:g.32369088A>T	-
ASXL1	Q8IXJ9	p.Arg77Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32369100C>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg77Ter	rs1375830737	stop gained	-	NC_000020.11:g.32369100C>T	gnomAD
ASXL1	Q8IXJ9	p.Ile78Val	rs747116564	missense variant	-	NC_000020.11:g.32369103A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser79Asn	rs1296130945	missense variant	-	NC_000020.11:g.32369107G>A	gnomAD
ASXL1	Q8IXJ9	p.Leu80Arg	rs1364292412	missense variant	-	NC_000020.11:g.32369110T>G	gnomAD
ASXL1	Q8IXJ9	p.Phe81Ser	rs543111241	missense variant	-	NC_000020.11:g.32369113T>C	1000Genomes,ExAC
ASXL1	Q8IXJ9	p.Thr82Ala	rs746065571	missense variant	-	NC_000020.11:g.32369115A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr82Met	rs769697612	missense variant	-	NC_000020.11:g.32369116C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu83Val	rs1237126623	missense variant	-	NC_000020.11:g.32369118C>G	gnomAD
ASXL1	Q8IXJ9	p.Lys84Arg	rs762682866	missense variant	-	NC_000020.11:g.32369122A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys84Gln	rs1285219133	missense variant	-	NC_000020.11:g.32369121A>C	TOPMed
ASXL1	Q8IXJ9	p.Lys85Arg	rs758884216	missense variant	-	NC_000020.11:g.32428129A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala87Ser	rs764542386	missense variant	-	NC_000020.11:g.32428134G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln89Lys	rs752178487	missense variant	-	NC_000020.11:g.32428140C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln89Arg	rs201743181	missense variant	-	NC_000020.11:g.32428141A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser91Cys	COSM478001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32428147C>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Arg92His	rs745960978	missense variant	-	NC_000020.11:g.32428150G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg92Cys	rs781684559	missense variant	-	NC_000020.11:g.32428149C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr96Ala	rs756181482	missense variant	-	NC_000020.11:g.32428161A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val97Ala	rs1363691379	missense variant	-	NC_000020.11:g.32428165T>C	gnomAD
ASXL1	Q8IXJ9	p.Glu103Asp	rs780298865	missense variant	-	NC_000020.11:g.32428184G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu103Gly	COSM3991628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32428183A>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Thr105Met	rs749495615	missense variant	-	NC_000020.11:g.32428189C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala106Thr	rs1460731601	missense variant	-	NC_000020.11:g.32428191G>A	TOPMed
ASXL1	Q8IXJ9	p.Val108Met	rs1375139737	missense variant	-	NC_000020.11:g.32428197G>A	TOPMed
ASXL1	Q8IXJ9	p.Ser110Asn	rs1209393404	missense variant	-	NC_000020.11:g.32428204G>A	gnomAD
ASXL1	Q8IXJ9	p.Cys111Tyr	rs987968539	missense variant	-	NC_000020.11:g.32428207G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly112Glu	rs1486567989	missense variant	-	NC_000020.11:g.32428210G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser113Phe	rs1188392212	missense variant	-	NC_000020.11:g.32428213C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu115Lys	rs1262669969	missense variant	-	NC_000020.11:g.32428218G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala116Thr	rs1474560744	missense variant	-	NC_000020.11:g.32428221G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser117Arg	rs1188313924	missense variant	-	NC_000020.11:g.32428224A>C	gnomAD
ASXL1	Q8IXJ9	p.Thr118Ser	rs778679424	missense variant	-	NC_000020.11:g.32428228C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val119Gly	rs1174650406	missense variant	-	NC_000020.11:g.32428231T>G	gnomAD
ASXL1	Q8IXJ9	p.Val119Met	rs1414383610	missense variant	-	NC_000020.11:g.32428230G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val119Leu	rs1414383610	missense variant	-	NC_000020.11:g.32428230G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser120Asn	COSM1025716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32428234G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Asn123Ser	rs913768599	missense variant	-	NC_000020.11:g.32428243A>G	TOPMed
ASXL1	Q8IXJ9	p.Asp124Asn	rs771925643	missense variant	-	NC_000020.11:g.32428245G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp128His	rs1247216500	missense variant	-	NC_000020.11:g.32428333G>C	gnomAD
ASXL1	Q8IXJ9	p.Thr130Ile	rs1454605216	missense variant	-	NC_000020.11:g.32428340C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser132Leu	rs370054224	missense variant	-	NC_000020.11:g.32428346C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser132Pro	rs779057252	missense variant	-	NC_000020.11:g.32428345T>C	ExAC
ASXL1	Q8IXJ9	p.Ala134Thr	rs777619874	missense variant	-	NC_000020.11:g.32428351G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser135Ala	rs1308232911	missense variant	-	NC_000020.11:g.32428354T>G	gnomAD
ASXL1	Q8IXJ9	p.Ser135Cys	rs746954131	missense variant	-	NC_000020.11:g.32428355C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser135Pro	rs1308232911	missense variant	-	NC_000020.11:g.32428354T>C	gnomAD
ASXL1	Q8IXJ9	p.Ser135Tyr	COSM6092858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32428355C>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser137Phe	rs1285138418	missense variant	-	NC_000020.11:g.32428361C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser137Cys	rs1285138418	missense variant	-	NC_000020.11:g.32428361C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln141Glu	rs1451270158	missense variant	-	NC_000020.11:g.32428372C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser142Gly	rs776287321	missense variant	-	NC_000020.11:g.32428375A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser142Asn	rs1469281991	missense variant	-	NC_000020.11:g.32428376G>A	gnomAD
ASXL1	Q8IXJ9	p.Arg143Ter	rs1179121574	stop gained	-	NC_000020.11:g.32428378C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg143Gln	rs144437064	missense variant	-	NC_000020.11:g.32428379G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg143Leu	rs144437064	missense variant	-	NC_000020.11:g.32428379G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu145Phe	rs769594900	missense variant	-	NC_000020.11:g.32428384C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser146Phe	rs1159519046	missense variant	-	NC_000020.11:g.32428388C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser146Thr	rs775171131	missense variant	-	NC_000020.11:g.32428387T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser151Arg	RCV000171344	missense variant	-	NC_000020.11:g.32428404C>A	ClinVar
ASXL1	Q8IXJ9	p.Ser151Arg	rs750955319	missense variant	-	NC_000020.11:g.32428404C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser151Gly	rs767904889	missense variant	-	NC_000020.11:g.32428402A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr152Cys	rs1396093056	missense variant	-	NC_000020.11:g.32428406A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln157His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32428422G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Gln157Arg	rs867244048	missense variant	-	NC_000020.11:g.32428421A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln157Leu	rs867244048	missense variant	-	NC_000020.11:g.32428421A>T	gnomAD
ASXL1	Q8IXJ9	p.Ala158Thr	rs1190521844	missense variant	-	NC_000020.11:g.32429338G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala158Val	rs1259109293	missense variant	-	NC_000020.11:g.32429339C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala158Pro	rs1190521844	missense variant	-	NC_000020.11:g.32429338G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn159Lys	rs1019881696	missense variant	-	NC_000020.11:g.32429343C>A	TOPMed
ASXL1	Q8IXJ9	p.Gln161Arg	rs759662137	missense variant	-	NC_000020.11:g.32429348A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys162Glu	COSM4097541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32429350A>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Lys163Arg	rs765345307	missense variant	-	NC_000020.11:g.32429354A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys163Thr	COSM1025720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32429354A>C	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gly166Arg	rs752930699	missense variant	-	NC_000020.11:g.32429362G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly166Glu	rs758651476	missense variant	-	NC_000020.11:g.32429363G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val167Met	rs1374773723	missense variant	-	NC_000020.11:g.32429365G>A	gnomAD
ASXL1	Q8IXJ9	p.Met168Leu	rs200503314	missense variant	-	NC_000020.11:g.32429368A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met168Leu	RCV000341613	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32429368A>T	ClinVar
ASXL1	Q8IXJ9	p.Leu169Val	rs751394199	missense variant	-	NC_000020.11:g.32429371C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val172CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32429378_32429379GA>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Val173Ala	rs1293492156	missense variant	-	NC_000020.11:g.32429384T>C	gnomAD
ASXL1	Q8IXJ9	p.Val173Ile	rs781321640	missense variant	-	NC_000020.11:g.32429383G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly181Val	rs1263730148	missense variant	-	NC_000020.11:g.32429408G>T	TOPMed
ASXL1	Q8IXJ9	p.His183Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32429414A>G	NCI-TCGA
ASXL1	Q8IXJ9	p.His183Tyr	rs755747902	missense variant	-	NC_000020.11:g.32429413C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val184Met	rs140731196	missense variant	-	NC_000020.11:g.32429416G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val184Leu	rs140731196	missense variant	-	NC_000020.11:g.32429416G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala187Val	rs1468736888	missense variant	-	NC_000020.11:g.32429426C>T	gnomAD
ASXL1	Q8IXJ9	p.Gly189Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32429431G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Gly189Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32429901G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Phe190Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32429905C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser191Leu	rs779803649	missense variant	-	NC_000020.11:g.32429907C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser191Trp	rs779803649	missense variant	-	NC_000020.11:g.32429907C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly192Asp	rs778674124	missense variant	-	NC_000020.11:g.32429910G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys193Tyr	rs1237338977	missense variant	-	NC_000020.11:g.32429913G>A	gnomAD
ASXL1	Q8IXJ9	p.His194Arg	rs771351026	missense variant	-	NC_000020.11:g.32429916A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His194Gln	rs116633791	missense variant	-	NC_000020.11:g.32429917C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His194Pro	rs771351026	missense variant	-	NC_000020.11:g.32429916A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala195Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32429918G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Asp196Asn	rs1005458245	missense variant	-	NC_000020.11:g.32429921G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly197Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32429925G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Gly197Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32429924G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu198Lys	rs376793343	missense variant	-	NC_000020.11:g.32429927G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu198Gln	rs376793343	missense variant	-	NC_000020.11:g.32429927G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser199Arg	rs774775836	missense variant	-	NC_000020.11:g.32429932C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly200Ser	rs368981019	missense variant	-	NC_000020.11:g.32429933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly200Cys	rs368981019	missense variant	-	NC_000020.11:g.32429933G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser201Asn	rs1164268660	missense variant	-	NC_000020.11:g.32429937G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser201Gly	rs1454532242	missense variant	-	NC_000020.11:g.32429936A>G	gnomAD
ASXL1	Q8IXJ9	p.Pro202Leu	rs750262296	missense variant	-	NC_000020.11:g.32429940C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro202Thr	rs767787155	missense variant	-	NC_000020.11:g.32429939C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro202Ser	rs767787155	missense variant	-	NC_000020.11:g.32429939C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser203Phe	COSM3545250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32429943C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser206Asn	rs753695060	missense variant	-	NC_000020.11:g.32429952G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser207Gly	rs1318312862	missense variant	-	NC_000020.11:g.32429954A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly208Ser	rs754572422	missense variant	-	NC_000020.11:g.32429957G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly208Asp	rs778390869	missense variant	-	NC_000020.11:g.32429958G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala211Val	rs1265899855	missense variant	-	NC_000020.11:g.32429967C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala215Thr	COSM5511154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32429978G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ile217Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32429984A>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg218Cys	rs564841799	missense variant	-	NC_000020.11:g.32429987C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg218Ser	rs564841799	missense variant	-	NC_000020.11:g.32429987C>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg218Pro	rs373418380	missense variant	-	NC_000020.11:g.32429988G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg218His	rs373418380	missense variant	-	NC_000020.11:g.32429988G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly219Val	rs587778064	missense variant	-	NC_000020.11:g.32429991G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly219Val	RCV000120114	missense variant	-	NC_000020.11:g.32429991G>T	ClinVar
ASXL1	Q8IXJ9	p.Glu222Lys	RCV000498145	missense variant	-	NC_000020.11:g.32429999G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu222Lys	RCV000503508	missense variant	Global developmental delay (DD)	NC_000020.11:g.32429999G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu222Lys	rs780662350	missense variant	-	NC_000020.11:g.32429999G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu222Gly	rs1364923384	missense variant	-	NC_000020.11:g.32430000A>G	TOPMed
ASXL1	Q8IXJ9	p.Thr224Ile	rs1165775102	missense variant	-	NC_000020.11:g.32430006C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln225Arg	rs1460951231	missense variant	-	NC_000020.11:g.32430009A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln225Ter	COSM1307273	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32430008C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ala228Val	rs587778063	missense variant	-	NC_000020.11:g.32430018C>T	-
ASXL1	Q8IXJ9	p.Ala228Val	RCV000120113	missense variant	-	NC_000020.11:g.32430018C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro229Ser	rs1300241784	missense variant	-	NC_000020.11:g.32430020C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro229Leu	rs576523117	missense variant	-	NC_000020.11:g.32430021C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro229Leu	RCV000288522	missense variant	-	NC_000020.11:g.32430021C>T	ClinVar
ASXL1	Q8IXJ9	p.Phe234Ser	rs1353196273	missense variant	-	NC_000020.11:g.32430036T>C	gnomAD
ASXL1	Q8IXJ9	p.Arg235Gln	rs1234538414	missense variant	-	NC_000020.11:g.32430039G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg235Trp	rs1234855061	missense variant	-	NC_000020.11:g.32430038C>T	gnomAD
ASXL1	Q8IXJ9	p.Lys236Gln	rs761932590	missense variant	-	NC_000020.11:g.32430041A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr239Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32430050A>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Thr239Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32430051C>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Thr239Ala	rs1306818500	missense variant	-	NC_000020.11:g.32430050A>G	gnomAD
ASXL1	Q8IXJ9	p.Met242Val	rs765190948	missense variant	-	NC_000020.11:g.32431326A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg244Ser	rs775377413	missense variant	-	NC_000020.11:g.32431332C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg244Cys	rs775377413	missense variant	-	NC_000020.11:g.32431332C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg244His	rs139716375	missense variant	-	NC_000020.11:g.32431333G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn245Ile	rs763582989	missense variant	-	NC_000020.11:g.32431336A>T	ExAC
ASXL1	Q8IXJ9	p.Arg246Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32431339G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Gly247Trp	rs1179449889	missense variant	-	NC_000020.11:g.32431341G>T	TOPMed
ASXL1	Q8IXJ9	p.Ile250Val	rs1478523808	missense variant	-	NC_000020.11:g.32431350A>G	gnomAD
ASXL1	Q8IXJ9	p.Ile250Met	rs1158370661	missense variant	-	NC_000020.11:g.32431352A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly256Arg	rs1282158059	missense variant	-	NC_000020.11:g.32431368G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly256PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32431365_32431371CCTGGGT>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Ile258Val	rs1398631312	missense variant	-	NC_000020.11:g.32431374A>G	gnomAD
ASXL1	Q8IXJ9	p.Arg265His	rs144349534	missense variant	-	NC_000020.11:g.32431396G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg265Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32431395C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg265Cys	rs767144159	missense variant	-	NC_000020.11:g.32431395C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg265Gly	rs767144159	missense variant	-	NC_000020.11:g.32431395C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala266Asp	rs1469495344	missense variant	-	NC_000020.11:g.32431399C>A	TOPMed
ASXL1	Q8IXJ9	p.Leu267Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32431402T>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Ile268Phe	rs200053121	missense variant	-	NC_000020.11:g.32431404A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile268Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32431405T>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Ile268Val	rs200053121	missense variant	-	NC_000020.11:g.32431404A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile268Met	rs1436870251	missense variant	-	NC_000020.11:g.32431406C>G	gnomAD
ASXL1	Q8IXJ9	p.Asn269Thr	rs779609836	missense variant	-	NC_000020.11:g.32431408A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser270Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32431411C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser270Pro	rs1286153885	missense variant	-	NC_000020.11:g.32431410T>C	TOPMed
ASXL1	Q8IXJ9	p.Arg271Gln	rs576447224	missense variant	-	NC_000020.11:g.32431414G>A	1000Genomes,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg271Trp	rs748649917	missense variant	-	NC_000020.11:g.32431413C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg271Pro	rs576447224	missense variant	-	NC_000020.11:g.32431414G>C	1000Genomes,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His274Leu	rs1274990710	missense variant	-	NC_000020.11:g.32431423A>T	gnomAD
ASXL1	Q8IXJ9	p.Phe280Leu	rs1268838941	missense variant	-	NC_000020.11:g.32431440T>C	gnomAD
ASXL1	Q8IXJ9	p.Phe280Leu	rs1334351668	missense variant	-	NC_000020.11:g.32431442C>G	gnomAD
ASXL1	Q8IXJ9	p.Gln283His	rs1275538082	missense variant	-	NC_000020.11:g.32431451G>C	gnomAD
ASXL1	Q8IXJ9	p.Glu290Val	rs948107833	missense variant	-	NC_000020.11:g.32431471A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu290Ala	rs948107833	missense variant	-	NC_000020.11:g.32431471A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg293Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32431479A>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Val295Ala	rs750064853	missense variant	-	NC_000020.11:g.32431584T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr297Met	rs373599045	missense variant	-	NC_000020.11:g.32431590C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr297Met	RCV000301957	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32431590C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg302His	rs769717271	missense variant	-	NC_000020.11:g.32431605G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg302Cys	rs1167333195	missense variant	-	NC_000020.11:g.32431604C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg302Ser	rs1167333195	missense variant	-	NC_000020.11:g.32431604C>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg302Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32431605G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Leu303Pro	rs1431344191	missense variant	-	NC_000020.11:g.32431608T>C	gnomAD
ASXL1	Q8IXJ9	p.Ser304Cys	rs146637943	missense variant	-	NC_000020.11:g.32431610A>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser305Ile	rs1413217828	missense variant	-	NC_000020.11:g.32431614G>T	gnomAD
ASXL1	Q8IXJ9	p.Thr314TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32431633_32431634insT	NCI-TCGA
ASXL1	Q8IXJ9	p.His315Leu	rs781319292	missense variant	-	NC_000020.11:g.32431644A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala316Val	rs1485128289	missense variant	-	NC_000020.11:g.32431647C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala317Val	rs1290952848	missense variant	-	NC_000020.11:g.32431650C>T	TOPMed
ASXL1	Q8IXJ9	p.Ala317Ser	rs1257658232	missense variant	-	NC_000020.11:g.32431649G>T	gnomAD
ASXL1	Q8IXJ9	p.Gln318Ter	rs1174269593	stop gained	-	NC_000020.11:g.32431652C>T	gnomAD
ASXL1	Q8IXJ9	p.Trp320Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32431660G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg321Gln	rs769646696	missense variant	-	NC_000020.11:g.32431662G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg321Trp	COSM1565851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32431661C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Arg323Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32431668G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu328Gln	rs1330515767	missense variant	-	NC_000020.11:g.32432882G>C	gnomAD
ASXL1	Q8IXJ9	p.His331Asp	RCV000300567	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32432891C>G	ClinVar
ASXL1	Q8IXJ9	p.His331Asp	rs886056597	missense variant	-	NC_000020.11:g.32432891C>G	-
ASXL1	Q8IXJ9	p.His331Gln	rs527956473	missense variant	-	NC_000020.11:g.32432893T>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His331Arg	rs1208821068	missense variant	-	NC_000020.11:g.32432892A>G	gnomAD
ASXL1	Q8IXJ9	p.Met333Ile	rs587778058	missense variant	-	NC_000020.11:g.32432899G>T	-
ASXL1	Q8IXJ9	p.Met333Ile	RCV000120088	missense variant	-	NC_000020.11:g.32432899G>T	ClinVar
ASXL1	Q8IXJ9	p.Ile337Lys	rs1379240545	missense variant	-	NC_000020.11:g.32432910T>A	TOPMed
ASXL1	Q8IXJ9	p.Arg338Gln	rs763319023	missense variant	-	NC_000020.11:g.32432913G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu340Lys	rs1180014276	missense variant	-	NC_000020.11:g.32432918G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu340Asp	rs1414475265	missense variant	-	NC_000020.11:g.32432920A>C	gnomAD
ASXL1	Q8IXJ9	p.Glu344Gly	rs1460118565	missense variant	-	NC_000020.11:g.32432931A>G	TOPMed
ASXL1	Q8IXJ9	p.Glu348Gln	rs368107684	missense variant	-	NC_000020.11:g.32432942G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu348Lys	rs368107684	missense variant	-	NC_000020.11:g.32432942G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln349Arg	rs1164335635	missense variant	-	NC_000020.11:g.32432946A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys353Gln	rs756364371	missense variant	-	NC_000020.11:g.32432957A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Phe354Leu	COSM256358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32432962C>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Tyr358Cys	rs1415471931	missense variant	-	NC_000020.11:g.32432973A>G	TOPMed
ASXL1	Q8IXJ9	p.Tyr359Cys	rs754808303	missense variant	-	NC_000020.11:g.32432976A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly364Asp	rs756902273	missense variant	-	NC_000020.11:g.32433289G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu369Gly	rs1382217601	missense variant	-	NC_000020.11:g.32433304A>G	TOPMed
ASXL1	Q8IXJ9	p.Ser370Thr	rs557983754	missense variant	-	NC_000020.11:g.32433306T>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser370Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.32433307C>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Gln372Ter	rs199846284	stop gained	-	NC_000020.11:g.32433312C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln372Lys	rs199846284	missense variant	-	NC_000020.11:g.32433312C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln372Glu	rs199846284	missense variant	-	NC_000020.11:g.32433312C>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln373Ter	rs1427299519	stop gained	-	NC_000020.11:g.32433315C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln373Ter	RCV000622427	nonsense	Inborn genetic diseases	NC_000020.11:g.32433315C>T	ClinVar
ASXL1	Q8IXJ9	p.Val375Met	rs748644253	missense variant	-	NC_000020.11:g.32433321G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val375Leu	rs748644253	missense variant	-	NC_000020.11:g.32433321G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln377Ter	rs1386196069	stop gained	-	NC_000020.11:g.32433327C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu379Ala	rs1434163063	missense variant	-	NC_000020.11:g.32433334A>C	gnomAD
ASXL1	Q8IXJ9	p.Lys383Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.32433345A>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Lys383Arg	rs1203866783	missense variant	-	NC_000020.11:g.32433346A>G	TOPMed
ASXL1	Q8IXJ9	p.Gly385Ser	rs963466544	missense variant	-	NC_000020.11:g.32433351G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu386Ter	rs772584710	stop gained	-	NC_000020.11:g.32433355T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu386Phe	rs773501932	missense variant	-	NC_000020.11:g.32433356G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys387Tyr	rs1302955173	missense variant	-	NC_000020.11:g.32433358G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys387Phe	rs1302955173	missense variant	-	NC_000020.11:g.32433358G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val388Leu	rs145699348	missense variant	-	NC_000020.11:g.32433360G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val388Ter	RCV000592184	frameshift	-	NC_000020.11:g.32433356_32433357GT[2]	ClinVar
ASXL1	Q8IXJ9	p.Val388ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32433355_32433356TG>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Val388Ile	rs145699348	missense variant	-	NC_000020.11:g.32433360G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val388Ala	rs771344849	missense variant	-	NC_000020.11:g.32433361T>C	ExAC
ASXL1	Q8IXJ9	p.Val388Ile	RCV000353113	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433360G>A	ClinVar
ASXL1	Q8IXJ9	p.Pro389Arg	rs776891768	missense variant	-	NC_000020.11:g.32433364C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu391Asp	rs1305163905	missense variant	-	NC_000020.11:g.32433371A>T	TOPMed
ASXL1	Q8IXJ9	p.Arg394Cys	rs534065676	missense variant	-	NC_000020.11:g.32433378C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg394His	rs201899433	missense variant	-	NC_000020.11:g.32433379G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln396Arg	rs762925891	missense variant	-	NC_000020.11:g.32433385A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg397Gly	rs369058266	missense variant	-	NC_000020.11:g.32433387C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg397His	rs757102293	missense variant	-	NC_000020.11:g.32433388G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg397Cys	rs369058266	missense variant	-	NC_000020.11:g.32433387C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly398Asp	rs781178976	missense variant	-	NC_000020.11:g.32433391G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg402Gln	rs755749479	missense variant	-	NC_000020.11:g.32433403G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln403Leu	rs1454065495	missense variant	-	NC_000020.11:g.32433406A>T	gnomAD
ASXL1	Q8IXJ9	p.Arg404Gln	rs748755685	missense variant	-	NC_000020.11:g.32433409G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000627196	nonsense	-	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000415151	nonsense	Developmental delay	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000414833	nonsense	Hypertrichosis	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg404Ter	rs373145711	stop gained	-	NC_000020.11:g.32433408C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000023977	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Asp405Gly	rs768224767	missense variant	-	NC_000020.11:g.32433412A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly406Val	rs778241944	missense variant	-	NC_000020.11:g.32433415G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.His407Arg	COSM3840724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433418A>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Arg411Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32433430G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg411His	rs143719307	missense variant	-	NC_000020.11:g.32433430G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg411Cys	rs148964601	missense variant	-	NC_000020.11:g.32433429C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser412Pro	rs776892604	missense variant	-	NC_000020.11:g.32433432T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser412Phe	rs201016007	missense variant	-	NC_000020.11:g.32433433C>T	-
ASXL1	Q8IXJ9	p.Arg413Trp	rs1272820357	missense variant	-	NC_000020.11:g.32433435C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg413Leu	rs1466780451	missense variant	-	NC_000020.11:g.32433436G>T	TOPMed
ASXL1	Q8IXJ9	p.Arg413Gln	rs1466780451	missense variant	-	NC_000020.11:g.32433436G>A	TOPMed
ASXL1	Q8IXJ9	p.Arg417Gly	rs375215583	missense variant	-	NC_000020.11:g.32433447C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg417Ter	RCV000326340	nonsense	-	NC_000020.11:g.32433447C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg417Gln	rs769921728	missense variant	-	NC_000020.11:g.32433448G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg417Ter	rs375215583	stop gained	-	NC_000020.11:g.32433447C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg417Ter	RCV000779346	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433447C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg419Lys	COSM3799425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433454G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Arg422Gly	rs1210656444	missense variant	-	NC_000020.11:g.32433462A>G	gnomAD
ASXL1	Q8IXJ9	p.Asn423Ser	RCV000260381	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433466A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn423Ser	rs886056598	missense variant	-	NC_000020.11:g.32433466A>G	-
ASXL1	Q8IXJ9	p.Lys427AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32433474A>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Gln428Ter	RCV000297241	frameshift	-	NC_000020.11:g.32433479dup	ClinVar
ASXL1	Q8IXJ9	p.Gln428Ter	RCV000325688	nonsense	-	NC_000020.11:g.32433480C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln428Ter	RCV000735213	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32433481_32433482del	ClinVar
ASXL1	Q8IXJ9	p.Gln428Ter	rs886041975	stop gained	-	NC_000020.11:g.32433480C>T	TOPMed
ASXL1	Q8IXJ9	p.Glu429Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32433484A>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu431Gly	rs1248768238	missense variant	-	NC_000020.11:g.32433490A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln432Ter	rs764325672	stop gained	-	NC_000020.11:g.32433492C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala433Pro	rs1464725319	missense variant	-	NC_000020.11:g.32433495G>C	gnomAD
ASXL1	Q8IXJ9	p.Gly434Glu	rs1191343540	missense variant	-	NC_000020.11:g.32433499G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly434Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32433499G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Val435Phe	rs1249356614	missense variant	-	NC_000020.11:g.32433501G>T	TOPMed
ASXL1	Q8IXJ9	p.Ala436Ser	rs1410759251	missense variant	-	NC_000020.11:g.32433504G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp438Tyr	rs1471354306	missense variant	-	NC_000020.11:g.32433510G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp438Glu	rs1160704020	missense variant	-	NC_000020.11:g.32433512T>A	gnomAD
ASXL1	Q8IXJ9	p.Lys440Glu	rs1389330371	missense variant	-	NC_000020.11:g.32433516A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser441Phe	rs751518063	missense variant	-	NC_000020.11:g.32433520C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala443Asp	rs1351336989	missense variant	-	NC_000020.11:g.32433526C>A	gnomAD
ASXL1	Q8IXJ9	p.Ser444Ter	rs373126831	stop gained	-	NC_000020.11:g.32433529C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser444Leu	rs373126831	missense variant	-	NC_000020.11:g.32433529C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser444Ter	rs373126831	stop gained	-	NC_000020.11:g.32433529C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser444Pro	rs750204108	missense variant	-	NC_000020.11:g.32433528T>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp445Gly	rs201151457	missense variant	-	NC_000020.11:g.32433532A>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val446Ile	RCV000313477	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433534G>A	ClinVar
ASXL1	Q8IXJ9	p.Val446Ile	rs376229687	missense variant	-	NC_000020.11:g.32433534G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro447Thr	rs1334789337	missense variant	-	NC_000020.11:g.32433537C>A	gnomAD
ASXL1	Q8IXJ9	p.Leu448Pro	RCV000370446	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433541T>C	ClinVar
ASXL1	Q8IXJ9	p.Leu448Pro	rs886056599	missense variant	-	NC_000020.11:g.32433541T>C	TOPMed
ASXL1	Q8IXJ9	p.Tyr449Cys	rs778435999	missense variant	-	NC_000020.11:g.32433544A>G	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Gly452Arg	rs1052747905	missense variant	-	NC_000020.11:g.32433552G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala454Val	rs1227044536	missense variant	-	NC_000020.11:g.32433559C>T	gnomAD
ASXL1	Q8IXJ9	p.Lys455Ter	rs1292471399	stop gained	-	NC_000020.11:g.32433561A>T	gnomAD
ASXL1	Q8IXJ9	p.Thr456Ile	rs747475412	missense variant	-	NC_000020.11:g.32433565C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp457Asn	rs912915179	missense variant	-	NC_000020.11:g.32433567G>A	TOPMed
ASXL1	Q8IXJ9	p.Pro458Arg	rs1481847597	missense variant	-	NC_000020.11:g.32433571C>G	gnomAD
ASXL1	Q8IXJ9	p.Ala459Thr	COSM1411069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433573G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gly460Glu	rs1183748271	missense variant	-	NC_000020.11:g.32433577G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser462Gly	rs1472430198	missense variant	-	NC_000020.11:g.32433582A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser462Asn	rs1364461359	missense variant	-	NC_000020.11:g.32433583G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser463Asn	rs373486603	missense variant	-	NC_000020.11:g.32433586G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser463Thr	rs373486603	missense variant	-	NC_000020.11:g.32433586G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser463Gly	rs1161459110	missense variant	-	NC_000020.11:g.32433585A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser463Thr	RCV000273509	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433586G>C	ClinVar
ASXL1	Q8IXJ9	p.Ser463Asn	RCV000120089	missense variant	-	NC_000020.11:g.32433586G>A	ClinVar
ASXL1	Q8IXJ9	p.Pro464Leu	rs1405789384	missense variant	-	NC_000020.11:g.32433589C>T	gnomAD
ASXL1	Q8IXJ9	p.His465Arg	rs749568474	missense variant	-	NC_000020.11:g.32433592A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu466Arg	rs768821760	missense variant	-	NC_000020.11:g.32433595T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr469Ile	rs774600044	missense variant	-	NC_000020.11:g.32433604C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser470Ter	RCV000478898	frameshift	-	NC_000020.11:g.32433604dup	ClinVar
ASXL1	Q8IXJ9	p.Ser470Thr	rs1357638839	missense variant	-	NC_000020.11:g.32433606T>A	gnomAD
ASXL1	Q8IXJ9	p.Ala472Val	rs760377286	missense variant	-	NC_000020.11:g.32433613C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala473Thr	rs1358407610	missense variant	-	NC_000020.11:g.32433615G>A	TOPMed
ASXL1	Q8IXJ9	p.Pro474Ser	rs766248526	missense variant	-	NC_000020.11:g.32433618C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro474Leu	rs1252085188	missense variant	-	NC_000020.11:g.32433619C>T	gnomAD
ASXL1	Q8IXJ9	p.Asp475Asn	rs754658635	missense variant	-	NC_000020.11:g.32433621G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu477Gln	rs141346625	missense variant	-	NC_000020.11:g.32433627G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu477Ter	rs141346625	stop gained	-	NC_000020.11:g.32433627G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu477Gln	RCV000120090	missense variant	-	NC_000020.11:g.32433627G>C	ClinVar
ASXL1	Q8IXJ9	p.Gly478Val	rs1327084977	missense variant	-	NC_000020.11:g.32433631G>T	TOPMed
ASXL1	Q8IXJ9	p.Gly478Ter	RCV000657555	frameshift	-	NC_000020.11:g.32433631del	ClinVar
ASXL1	Q8IXJ9	p.Glu480Ter	rs545224250	stop gained	-	NC_000020.11:g.32433636G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu480Lys	rs545224250	missense variant	-	NC_000020.11:g.32433636G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val483Ter	RCV000623422	frameshift	Inborn genetic diseases	NC_000020.11:g.32433644dup	ClinVar
ASXL1	Q8IXJ9	p.Glu484Gln	rs1388025911	missense variant	-	NC_000020.11:g.32433648G>C	gnomAD
ASXL1	Q8IXJ9	p.Glu484Asp	COSM4097543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433650G>C	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser485Cys	rs1431862341	missense variant	-	NC_000020.11:g.32433652C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser488Phe	rs781545960	missense variant	-	NC_000020.11:g.32433661C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg489Gly	rs142172134	missense variant	-	NC_000020.11:g.32433663C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg489Gln	rs780602186	missense variant	-	NC_000020.11:g.32433664G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg489Trp	rs142172134	missense variant	-	NC_000020.11:g.32433663C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln491Ter	rs1335820343	stop gained	-	NC_000020.11:g.32433669C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala492Ser	rs145913172	missense variant	-	NC_000020.11:g.32433672G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala492Asp	rs141314105	missense variant	-	NC_000020.11:g.32433673C>A	gnomAD
ASXL1	Q8IXJ9	p.Ala492Pro	rs145913172	missense variant	-	NC_000020.11:g.32433672G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala492Val	rs141314105	missense variant	-	NC_000020.11:g.32433673C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu493Ter	rs1434942289	stop gained	-	NC_000020.11:g.32433675G>T	gnomAD
ASXL1	Q8IXJ9	p.Pro494Ser	COSM1025724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433678C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Asn496Lys	RCV000330940	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433686C>G	ClinVar
ASXL1	Q8IXJ9	p.Asn496Lys	rs769017790	missense variant	-	NC_000020.11:g.32433686C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala498Ter	RCV000723150	frameshift	-	NC_000020.11:g.32433690dup	ClinVar
ASXL1	Q8IXJ9	p.Arg499His	rs549287573	missense variant	-	NC_000020.11:g.32433694G>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg499Cys	rs376089258	missense variant	-	NC_000020.11:g.32433693C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala502Val	rs772255605	missense variant	-	NC_000020.11:g.32433703C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala502Ser	rs1280067131	missense variant	-	NC_000020.11:g.32433702G>T	gnomAD
ASXL1	Q8IXJ9	p.Ser503Cys	rs773003506	missense variant	-	NC_000020.11:g.32433706C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro504Arg	rs1246107812	missense variant	-	NC_000020.11:g.32433709C>G	gnomAD
ASXL1	Q8IXJ9	p.Asp505Val	rs528890865	missense variant	-	NC_000020.11:g.32433712A>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp505Gly	rs528890865	missense variant	-	NC_000020.11:g.32433712A>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp505Asn	rs561374294	missense variant	-	NC_000020.11:g.32433711G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp505His	rs561374294	missense variant	-	NC_000020.11:g.32433711G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg506Thr	rs1464693264	missense variant	-	NC_000020.11:g.32433715G>C	gnomAD
ASXL1	Q8IXJ9	p.Arg506Gly	rs1307231164	missense variant	-	NC_000020.11:g.32433714A>G	TOPMed
ASXL1	Q8IXJ9	p.Arg506Ile	rs1464693264	missense variant	-	NC_000020.11:g.32433715G>T	gnomAD
ASXL1	Q8IXJ9	p.Ile507Met	rs764873181	missense variant	-	NC_000020.11:g.32433719T>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile507Asn	rs138971201	missense variant	-	NC_000020.11:g.32433718T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro508Thr	rs1456774256	missense variant	-	NC_000020.11:g.32433720C>A	gnomAD
ASXL1	Q8IXJ9	p.Ser509Thr	rs1325586245	missense variant	-	NC_000020.11:g.32433724G>C	TOPMed
ASXL1	Q8IXJ9	p.Ser509Arg	rs1319205628	missense variant	-	NC_000020.11:g.32433725C>A	gnomAD
ASXL1	Q8IXJ9	p.Leu510Pro	rs752413007	missense variant	-	NC_000020.11:g.32433727T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln512Ter	rs757832294	stop gained	-	NC_000020.11:g.32433732C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu513Ter	rs763708711	stop gained	-	NC_000020.11:g.32433735G>T	ExAC
ASXL1	Q8IXJ9	p.Glu513Asp	rs750860968	missense variant	-	NC_000020.11:g.32433737A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val515Met	rs370749247	missense variant	-	NC_000020.11:g.32433741G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val515Ter	RCV000622658	frameshift	Inborn genetic diseases	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
ASXL1	Q8IXJ9	p.Val515Ter	RCV000778133	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
ASXL1	Q8IXJ9	p.Val515Ter	RCV000366685	frameshift	-	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
ASXL1	Q8IXJ9	p.Asp516Tyr	rs754265104	missense variant	-	NC_000020.11:g.32433744G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln517Ter	rs755464186	stop gained	-	NC_000020.11:g.32433747C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu518Val	rs779269318	missense variant	-	NC_000020.11:g.32433751A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu518Lys	rs1209779368	missense variant	-	NC_000020.11:g.32433750G>A	gnomAD
ASXL1	Q8IXJ9	p.Asp521Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32433759G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Gln522Ter	rs772017757	stop gained	-	NC_000020.11:g.32433762C>T	ExAC
ASXL1	Q8IXJ9	p.Ser526Thr	rs1266341581	missense variant	-	NC_000020.11:g.32433774T>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser526Phe	rs1431666756	missense variant	-	NC_000020.11:g.32433775C>T	gnomAD
ASXL1	Q8IXJ9	p.Phe527Leu	rs777942161	missense variant	-	NC_000020.11:g.32433779T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu528Gln	rs746873290	missense variant	-	NC_000020.11:g.32433780G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu528Ter	rs746873290	stop gained	-	NC_000020.11:g.32433780G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln529Ter	rs770914619	stop gained	-	NC_000020.11:g.32433783C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala530Val	rs988568801	missense variant	-	NC_000020.11:g.32433787C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala531Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32433790C>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser534Cys	rs1458183314	missense variant	-	NC_000020.11:g.32433799C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro536Leu	rs1247116484	missense variant	-	NC_000020.11:g.32433805C>T	TOPMed
ASXL1	Q8IXJ9	p.Glu537Ter	rs369425922	stop gained	-	NC_000020.11:g.32433807G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu537Lys	rs369425922	missense variant	-	NC_000020.11:g.32433807G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu537Asp	COSM3840728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433809A>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Lys538ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32433808A>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Lys539SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32433813A>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro540Ser	rs1023881021	missense variant	-	NC_000020.11:g.32433816C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro540Ala	rs1023881021	missense variant	-	NC_000020.11:g.32433816C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu542Arg	rs762705745	missense variant	-	NC_000020.11:g.32433823T>G	ExAC
ASXL1	Q8IXJ9	p.Asp544His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32433828G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Asp544Glu	rs761024882	missense variant	-	NC_000020.11:g.32433830T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp544Gly	rs751100079	missense variant	-	NC_000020.11:g.32433829A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp544Asn	COSM1307275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433828G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Arg545Cys	rs137920574	missense variant	-	NC_000020.11:g.32433831C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg545Ser	rs137920574	missense variant	-	NC_000020.11:g.32433831C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg545His	rs149449801	missense variant	-	NC_000020.11:g.32433832G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg545Pro	COSM6092856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433832G>C	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Arg545ValPheSerTerUnkUnkUnk	COSM2889251	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32433831C>-	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gln546Ter	rs1264792645	stop gained	-	NC_000020.11:g.32433834C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg549Cys	rs1299423705	missense variant	-	NC_000020.11:g.32433843C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg549His	COSM4097547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433844G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Thr551Ser	rs755376183	missense variant	-	NC_000020.11:g.32433849A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile552Val	rs143952412	missense variant	-	NC_000020.11:g.32433852A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile552Thr	rs1180135415	missense variant	-	NC_000020.11:g.32433853T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu553Ter	RCV000778628	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433855G>T	ClinVar
ASXL1	Q8IXJ9	p.Ser554Asn	rs752824843	missense variant	-	NC_000020.11:g.32433859G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser554Thr	rs752824843	missense variant	-	NC_000020.11:g.32433859G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val555Ile	rs1425563487	missense variant	-	NC_000020.11:g.32433861G>A	TOPMed
ASXL1	Q8IXJ9	p.His556Tyr	rs1164774013	missense variant	-	NC_000020.11:g.32433864C>T	gnomAD
ASXL1	Q8IXJ9	p.Thr557Ala	rs1185741428	missense variant	-	NC_000020.11:g.32433867A>G	TOPMed
ASXL1	Q8IXJ9	p.Thr557Ser	rs1474354822	missense variant	-	NC_000020.11:g.32433868C>G	TOPMed
ASXL1	Q8IXJ9	p.Glu558Lys	rs899345535	missense variant	-	NC_000020.11:g.32433870G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu558Ter	rs899345535	stop gained	-	NC_000020.11:g.32433870G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro562Ser	rs771064807	missense variant	-	NC_000020.11:g.32433882C>T	ExAC
ASXL1	Q8IXJ9	p.Thr563Ile	rs1279770197	missense variant	-	NC_000020.11:g.32433886C>T	TOPMed
ASXL1	Q8IXJ9	p.Thr563Ala	rs769192383	missense variant	-	NC_000020.11:g.32433885A>G	gnomAD
ASXL1	Q8IXJ9	p.Lys564Glu	rs994849358	missense variant	-	NC_000020.11:g.32433888A>G	TOPMed
ASXL1	Q8IXJ9	p.Lys564Ter	COSM3799430	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32433888A>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Glu566Asp	rs1279708959	missense variant	-	NC_000020.11:g.32433896G>C	TOPMed
ASXL1	Q8IXJ9	p.Glu566SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32433893G>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu566Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.32433894G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu566Val	rs139843035	missense variant	-	NC_000020.11:g.32433895A>T	ESP
ASXL1	Q8IXJ9	p.Pro567Ser	rs1047797896	missense variant	-	NC_000020.11:g.32433897C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro567Leu	COSM3545252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32433898C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Lys568Arg	rs1338995781	missense variant	-	NC_000020.11:g.32433901A>G	TOPMed
ASXL1	Q8IXJ9	p.Pro570Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32433906C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro570Leu	rs539520990	missense variant	-	NC_000020.11:g.32433907C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg573Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32433916G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg573Trp	rs373685182	missense variant	-	NC_000020.11:g.32433915C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg573Gln	rs144440597	missense variant	-	NC_000020.11:g.32433916G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln575Ter	rs747847938	stop gained	-	NC_000020.11:g.32434435C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln575His	rs771671358	missense variant	-	NC_000020.11:g.32434437A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser577Pro	rs772873915	missense variant	-	NC_000020.11:g.32434441T>C	ExAC
ASXL1	Q8IXJ9	p.Ser577Ter	COSM3799432	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32434442C>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Arg578His	rs921565741	missense variant	-	NC_000020.11:g.32434445G>A	TOPMed
ASXL1	Q8IXJ9	p.Ile579Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434447A>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Ile579Val	rs368930454	missense variant	-	NC_000020.11:g.32434447A>G	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro581Leu	rs775928560	missense variant	-	NC_000020.11:g.32434454C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro581Arg	rs775928560	missense variant	-	NC_000020.11:g.32434454C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro582Ser	rs1488971611	missense variant	-	NC_000020.11:g.32434456C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro582His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434457C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Trp583Ter	rs1174760074	stop gained	-	NC_000020.11:g.32434461G>A	gnomAD
ASXL1	Q8IXJ9	p.Trp583Ter	rs763361634	stop gained	-	NC_000020.11:g.32434460G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly587Cys	rs764414702	missense variant	-	NC_000020.11:g.32434471G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln588Ter	rs1486082302	stop gained	-	NC_000020.11:g.32434474C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln588Ter	RCV000760590	nonsense	-	NC_000020.11:g.32434474C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro589Leu	rs751772819	missense variant	-	NC_000020.11:g.32434478C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Tyr591Ter	rs371369583	stop gained	-	NC_000020.11:g.32434485C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr591Ter	RCV000519960	nonsense	-	NC_000020.11:g.32434485C>G	ClinVar
ASXL1	Q8IXJ9	p.Tyr591Ter	rs762036456	stop gained	-	NC_000020.11:g.32434484dup	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr591Ter	rs371369583	stop gained	-	NC_000020.11:g.32434485C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln592Arg	rs750512886	missense variant	-	NC_000020.11:g.32434487A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln592Ter	rs951716574	stop gained	-	NC_000020.11:g.32434486C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile593Val	rs1299465576	missense variant	-	NC_000020.11:g.32434489A>G	gnomAD
ASXL1	Q8IXJ9	p.Cys594AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32434491A>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Cys594Arg	rs1204364792	missense variant	-	NC_000020.11:g.32434492T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys594Ter	rs755974145	stop gained	-	NC_000020.11:g.32434494C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg596Trp	rs780033634	missense variant	-	NC_000020.11:g.32434498C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile597Leu	rs984648436	missense variant	-	NC_000020.11:g.32434501A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr600Ile	rs754774849	missense variant	-	NC_000020.11:g.32434511C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr601Ala	rs1298915538	missense variant	-	NC_000020.11:g.32434513A>G	TOPMed
ASXL1	Q8IXJ9	p.Thr601Met	rs778606251	missense variant	-	NC_000020.11:g.32434514C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys605Phe	rs772781848	missense variant	-	NC_000020.11:g.32434526G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys605Tyr	rs772781848	missense variant	-	NC_000020.11:g.32434526G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg606Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434529G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg606Trp	rs746515791	missense variant	-	NC_000020.11:g.32434528C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg606Gln	rs587778061	missense variant	-	NC_000020.11:g.32434529G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg606Gln	RCV000120104	missense variant	-	NC_000020.11:g.32434529G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly607Cys	rs1369413951	missense variant	-	NC_000020.11:g.32434531G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly607Asp	rs1479104382	missense variant	-	NC_000020.11:g.32434532G>A	TOPMed
ASXL1	Q8IXJ9	p.Trp608Cys	rs1434857838	missense variant	-	NC_000020.11:g.32434536G>C	gnomAD
ASXL1	Q8IXJ9	p.Thr609Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434537A>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Thr609Ile	rs1292056366	missense variant	-	NC_000020.11:g.32434538C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly610Asp	rs940521669	missense variant	-	NC_000020.11:g.32434541G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala611Ser	rs372418554	missense variant	-	NC_000020.11:g.32434543G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala611Thr	rs372418554	missense variant	-	NC_000020.11:g.32434543G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg612Ser	rs1224237404	missense variant	-	NC_000020.11:g.32434548G>T	gnomAD
ASXL1	Q8IXJ9	p.Arg612Met	COSM1411075	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32434547G>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Thr613ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32434547G>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Thr613Ile	rs1287753337	missense variant	-	NC_000020.11:g.32434550C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala615Thr	rs1230703370	missense variant	-	NC_000020.11:g.32434555G>A	gnomAD
ASXL1	Q8IXJ9	p.Ile617Val	rs1285568939	missense variant	-	NC_000020.11:g.32434561A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile617Phe	rs1285568939	missense variant	-	NC_000020.11:g.32434561A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.IleLys617IleLysTerUnk	rs1555911840	stop gained	-	NC_000020.11:g.32434563_32434566dup	TOPMed
ASXL1	Q8IXJ9	p.Lys618Glu	rs774719088	missense variant	-	NC_000020.11:g.32434564A>G	ExAC
ASXL1	Q8IXJ9	p.Arg620Pro	rs750708574	missense variant	-	NC_000020.11:g.32434571G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg620His	rs750708574	missense variant	-	NC_000020.11:g.32434571G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg620Cys	rs561663577	missense variant	-	NC_000020.11:g.32434570C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala621Pro	rs760727236	missense variant	-	NC_000020.11:g.32434573G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala621Thr	rs760727236	missense variant	-	NC_000020.11:g.32434573G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln623Ter	rs111316898	stop gained	-	NC_000020.11:g.32434579C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln623Ter	RCV000331527	nonsense	-	NC_000020.11:g.32434579C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg625Gln	rs199602042	missense variant	-	NC_000020.11:g.32434586G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly626Glu	rs1336373430	missense variant	-	NC_000020.11:g.32434589G>A	TOPMed
ASXL1	Q8IXJ9	p.Gly626ValPheSerTerUnkUnk	COSM1025726	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32434588_32434597GGGGCGAGAG>-	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ala627Val	rs1162384519	missense variant	-	NC_000020.11:g.32434592C>T	gnomAD
ASXL1	Q8IXJ9	p.Gly629AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32434598_32434599GT>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Gly629Ser	rs752546076	missense variant	-	NC_000020.11:g.32434597G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly629Val	rs1307506315	missense variant	-	NC_000020.11:g.32434598G>T	gnomAD
ASXL1	Q8IXJ9	p.His631Leu	rs758334915	missense variant	-	NC_000020.11:g.32434604A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys632Ter	rs1356224550	stop gained	-	NC_000020.11:g.32434608C>A	gnomAD
ASXL1	Q8IXJ9	p.Cys632Tyr	rs930925893	missense variant	-	NC_000020.11:g.32434607G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His633Arg	rs201280462	missense variant	-	NC_000020.11:g.32434610A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu635Gly	rs746706200	missense variant	-	NC_000020.11:g.32434616A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala636Val	rs370230857	missense variant	-	NC_000020.11:g.32434619C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala637Gly	RCV000662109	missense variant	Myelodysplastic syndrome (MDS)	NC_000020.11:g.32434622C>G	ClinVar
ASXL1	Q8IXJ9	p.Ala637Gly	RCV000662110	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000020.11:g.32434622C>G	ClinVar
ASXL1	Q8IXJ9	p.Ala637Gly	rs769053835	missense variant	-	NC_000020.11:g.32434622C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala637Val	rs769053835	missense variant	-	NC_000020.11:g.32434622C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala637Thr	rs1183315960	missense variant	-	NC_000020.11:g.32434621G>A	gnomAD
ASXL1	Q8IXJ9	p.Ile641Ser	rs1425060838	missense variant	-	NC_000020.11:g.32434634T>G	gnomAD
ASXL1	Q8IXJ9	p.Ile641Val	rs1451193317	missense variant	-	NC_000020.11:g.32434633A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly642Ter	rs892732207	stop gained	-	NC_000020.11:g.32434636G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly642Arg	rs892732207	missense variant	-	NC_000020.11:g.32434636G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly643Arg	rs773395454	missense variant	-	NC_000020.11:g.32434639G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32434637_32434638insT	NCI-TCGA
ASXL1	Q8IXJ9	p.Gly643Trp	rs773395454	missense variant	-	NC_000020.11:g.32434639G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Ala	rs201649676	missense variant	-	NC_000020.11:g.32434640G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Glu	rs201649676	missense variant	-	NC_000020.11:g.32434640G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Val	rs201649676	missense variant	-	NC_000020.11:g.32434640G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly644Trp	rs533988689	missense variant	-	NC_000020.11:g.32434642G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly645Val	rs751215316	missense variant	-	NC_000020.11:g.32434646G>T	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Gly645ValPheSerTerUnkUnk	rs781077343	frameshift	-	NC_000020.11:g.32434639G>-	NCI-TCGA,NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gly646Ter	RCV000677687	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32434646dup	ClinVar
ASXL1	Q8IXJ9	p.Gly646TrpPheSerTerUnkUnk	rs756958159	frameshift	-	NC_000020.11:g.32434638_32434639insG	NCI-TCGA,NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gly646Ter	RCV000489373	frameshift	-	NC_000020.11:g.32434646dup	ClinVar
ASXL1	Q8IXJ9	p.Pro647Leu	rs745371501	missense variant	-	NC_000020.11:g.32434652C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro647Thr	rs1228100817	missense variant	-	NC_000020.11:g.32434651C>A	gnomAD
ASXL1	Q8IXJ9	p.Gly648Ala	rs1391303880	missense variant	-	NC_000020.11:g.32434655G>C	gnomAD
ASXL1	Q8IXJ9	p.Gly649Glu	rs1273026836	missense variant	-	NC_000020.11:g.32434658G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly650Asp	COSM6159429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32434661G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gly652Ser	RCV000120105	missense variant	-	NC_000020.11:g.32434666G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly652Ser	rs3746609	missense variant	-	NC_000020.11:g.32434666G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly652Ser	RCV000273071	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434666G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly653Arg	rs537734228	missense variant	-	NC_000020.11:g.32434669G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly653Glu	rs1187663391	missense variant	-	NC_000020.11:g.32434670G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala654Asp	rs200756074	missense variant	-	NC_000020.11:g.32434673C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala654Val	rs200756074	missense variant	-	NC_000020.11:g.32434673C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala654Thr	rs1378106478	missense variant	-	NC_000020.11:g.32434672G>A	TOPMed
ASXL1	Q8IXJ9	p.Thr655Ala	rs776979634	missense variant	-	NC_000020.11:g.32434675A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp656Asn	rs765459479	missense variant	-	NC_000020.11:g.32434678G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly660Asp	COSM1025728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32434691G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser663Asn	rs763013543	missense variant	-	NC_000020.11:g.32434700G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser663Gly	rs775538653	missense variant	-	NC_000020.11:g.32434699A>G	ExAC
ASXL1	Q8IXJ9	p.Ser664Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434704C>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser665Asn	rs963788591	missense variant	-	NC_000020.11:g.32434706G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser665Thr	rs963788591	missense variant	-	NC_000020.11:g.32434706G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly666Cys	rs973698132	missense variant	-	NC_000020.11:g.32434708G>T	TOPMed
ASXL1	Q8IXJ9	p.Asp667Asn	rs763933091	missense variant	-	NC_000020.11:g.32434711G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly669Ser	rs751323580	missense variant	-	NC_000020.11:g.32434717G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly669Asp	rs756863234	missense variant	-	NC_000020.11:g.32434718G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala671Gly	rs1270407759	missense variant	-	NC_000020.11:g.32434724C>G	gnomAD
ASXL1	Q8IXJ9	p.Cys672Tyr	rs1284133354	missense variant	-	NC_000020.11:g.32434727G>A	TOPMed
ASXL1	Q8IXJ9	p.His674Tyr	rs750146260	missense variant	-	NC_000020.11:g.32434732C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro675Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434736C>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu676Lys	rs1026621329	missense variant	-	NC_000020.11:g.32434738G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly679Ter	COSM3727757	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32434747G>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gly680Val	rs375968114	missense variant	-	NC_000020.11:g.32434751G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly680Asp	rs375968114	missense variant	-	NC_000020.11:g.32434751G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr683Ala	rs1245899583	missense variant	-	NC_000020.11:g.32434759A>G	gnomAD
ASXL1	Q8IXJ9	p.Pro684Leu	rs758924265	missense variant	-	NC_000020.11:g.32434763C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly685Arg	rs369152088	missense variant	-	NC_000020.11:g.32434765G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys686Arg	rs1323571527	missense variant	-	NC_000020.11:g.32434769A>G	TOPMed
ASXL1	Q8IXJ9	p.Cys687Tyr	rs142450571	missense variant	-	NC_000020.11:g.32434772G>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys687Gly	rs140197482	missense variant	-	NC_000020.11:g.32434771T>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys687Arg	rs140197482	missense variant	-	NC_000020.11:g.32434771T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys687Ter	rs1160049111	stop gained	-	NC_000020.11:g.32434773T>A	TOPMed
ASXL1	Q8IXJ9	p.Thr688Met	rs375094000	missense variant	-	NC_000020.11:g.32434775C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser689Ter	rs1387681483	stop gained	-	NC_000020.11:g.32434778C>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser689Ter	rs1387681483	stop gained	-	NC_000020.11:g.32434778C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp690His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434780G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Gln692Ter	rs1478929932	stop gained	-	NC_000020.11:g.32434786C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg693Ter	RCV000760645	nonsense	-	NC_000020.11:g.32434789C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg693Ter	rs373221034	stop gained	-	NC_000020.11:g.32434789C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro698Ser	rs1324197580	missense variant	-	NC_000020.11:g.32434804C>T	gnomAD
ASXL1	Q8IXJ9	p.Tyr700Ter	rs1261178797	stop gained	-	NC_000020.11:g.32434812T>A	TOPMed
ASXL1	Q8IXJ9	p.Tyr700Ter	RCV000660864	nonsense	Myelodysplasia	NC_000020.11:g.32434812T>A	ClinVar
ASXL1	Q8IXJ9	p.Tyr700Cys	rs1266159630	missense variant	-	NC_000020.11:g.32434811A>G	gnomAD
ASXL1	Q8IXJ9	p.Asn703Ser	rs764131486	missense variant	-	NC_000020.11:g.32434820A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly704Arg	rs151317625	missense variant	-	NC_000020.11:g.32434822G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly704Arg	rs151317625	missense variant	-	NC_000020.11:g.32434822G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly704Trp	rs151317625	missense variant	-	NC_000020.11:g.32434822G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly704Arg	RCV000382802	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434822G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu705SerPheSerTerUnkUnk	rs778670589	frameshift	-	NC_000020.11:g.32434822G>-	NCI-TCGA,NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.His706Arg	rs1054427525	missense variant	-	NC_000020.11:g.32434829A>G	TOPMed
ASXL1	Q8IXJ9	p.Gln708Ter	rs755789372	stop gained	-	NC_000020.11:g.32434834C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala709Ser	rs868859861	missense variant	-	NC_000020.11:g.32434837G>T	gnomAD
ASXL1	Q8IXJ9	p.Ala709Thr	rs868859861	missense variant	-	NC_000020.11:g.32434837G>A	gnomAD
ASXL1	Q8IXJ9	p.Met713Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434850T>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Met713Val	rs1269615976	missense variant	-	NC_000020.11:g.32434849A>G	gnomAD
ASXL1	Q8IXJ9	p.Met713Ile	rs765820800	missense variant	-	NC_000020.11:g.32434851G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala716Val	rs1366033786	missense variant	-	NC_000020.11:g.32434859C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg717Ser	rs1337715441	missense variant	-	NC_000020.11:g.32434863G>C	TOPMed
ASXL1	Q8IXJ9	p.Arg718Gly	rs1158922559	missense variant	-	NC_000020.11:g.32434864A>G	gnomAD
ASXL1	Q8IXJ9	p.Arg718Lys	rs754554150	missense variant	-	NC_000020.11:g.32434865G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg725Lys	rs781644673	missense variant	-	NC_000020.11:g.32434886G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg725Ter	rs757533853	stop gained	-	NC_000020.11:g.32434885A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys726Ter	rs1415948169	stop gained	-	NC_000020.11:g.32434888A>T	TOPMed
ASXL1	Q8IXJ9	p.Lys726Arg	rs1239535844	missense variant	-	NC_000020.11:g.32434889A>G	gnomAD
ASXL1	Q8IXJ9	p.Glu727Ter	rs1264581343	stop gained	-	NC_000020.11:g.32434891G>T	gnomAD
ASXL1	Q8IXJ9	p.Glu727Gln	rs1264581343	missense variant	-	NC_000020.11:g.32434891G>C	gnomAD
ASXL1	Q8IXJ9	p.Leu731Arg	rs1292764187	missense variant	-	NC_000020.11:g.32434904T>G	gnomAD
ASXL1	Q8IXJ9	p.Leu732Pro	rs770152895	missense variant	-	NC_000020.11:g.32434907T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln733Ter	RCV000023980	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32434909C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln733His	rs768911270	missense variant	-	NC_000020.11:g.32434911G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln733Leu	rs370211132	missense variant	-	NC_000020.11:g.32434910A>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln733Ter	rs387907078	stop gained	-	NC_000020.11:g.32434909C>T	ExAC
ASXL1	Q8IXJ9	p.Arg734Gly	rs774130477	missense variant	-	NC_000020.11:g.32434912A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr736Ile	rs1392100102	missense variant	-	NC_000020.11:g.32434919C>T	gnomAD
ASXL1	Q8IXJ9	p.Val737Ala	rs761847705	missense variant	-	NC_000020.11:g.32434922T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly738Ter	rs1165142818	stop gained	-	NC_000020.11:g.32434924G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly738AspPheSerTerUnk	COSM1318846	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32434924G>-	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Leu739Ile	rs771719149	missense variant	-	NC_000020.11:g.32434927C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr740Ile	rs773075570	missense variant	-	NC_000020.11:g.32434931C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp741Val	rs149971443	missense variant	-	NC_000020.11:g.32434934A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly742Trp	rs1375465937	missense variant	-	NC_000020.11:g.32434936G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly744ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32434939_32434949CTAGGAGATGC>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Gly744Ter	rs1311916988	stop gained	-	NC_000020.11:g.32434942G>T	gnomAD
ASXL1	Q8IXJ9	p.Ala746Val	rs764844021	missense variant	-	NC_000020.11:g.32434949C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala746Thr	rs759026497	missense variant	-	NC_000020.11:g.32434948G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln748Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434954C>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Gln748Ter	rs1202551247	stop gained	-	NC_000020.11:g.32434954C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro750Ser	rs1218506765	missense variant	-	NC_000020.11:g.32434960C>T	TOPMed
ASXL1	Q8IXJ9	p.Val751Ile	RCV000284499	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434963G>A	ClinVar
ASXL1	Q8IXJ9	p.Val751Phe	rs6058693	missense variant	-	NC_000020.11:g.32434963G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val751Ile	rs6058693	missense variant	-	NC_000020.11:g.32434963G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr754Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32434973C>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Thr754Ser	rs1184551610	missense variant	-	NC_000020.11:g.32434973C>G	gnomAD
ASXL1	Q8IXJ9	p.Thr754Ser	rs749566656	missense variant	-	NC_000020.11:g.32434972A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr754Ala	rs749566656	missense variant	-	NC_000020.11:g.32434972A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp756Ala	rs768821774	missense variant	-	NC_000020.11:g.32434979A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln757Ter	rs779078826	stop gained	-	NC_000020.11:g.32434981C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln760Ter	rs1167715259	stop gained	-	NC_000020.11:g.32434990C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala761Thr	rs146052718	missense variant	-	NC_000020.11:g.32434993G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu765Pro	rs1171138318	missense variant	-	NC_000020.11:g.32435006T>C	TOPMed
ASXL1	Q8IXJ9	p.Ser766Phe	rs1364748695	missense variant	-	NC_000020.11:g.32435009C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser767Tyr	rs376999466	missense variant	-	NC_000020.11:g.32435012C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln768Ter	rs770762273	stop gained	-	NC_000020.11:g.32435014C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr769Ile	rs1308210159	missense variant	-	NC_000020.11:g.32435018C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser770Ter	rs776235263	stop gained	-	NC_000020.11:g.32435021C>A	ExAC
ASXL1	Q8IXJ9	p.Ala772Thr	rs1261856158	missense variant	-	NC_000020.11:g.32435026G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala772Pro	rs1261856158	missense variant	-	NC_000020.11:g.32435026G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala772Val	rs1463010740	missense variant	-	NC_000020.11:g.32435027C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu773Ter	rs759218892	stop gained	-	NC_000020.11:g.32435029G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu773Gln	rs759218892	missense variant	-	NC_000020.11:g.32435029G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg774Gly	rs764604832	missense variant	-	NC_000020.11:g.32435032A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu775Ter	rs752263134	stop gained	-	NC_000020.11:g.32435036T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu775Ter	rs752263134	stop gained	-	NC_000020.11:g.32435036T>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro779Leu	rs41289850	missense variant	-	NC_000020.11:g.32435048C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln780Ter	rs751021760	stop gained	-	NC_000020.11:g.32435050C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro783Leu	rs375321203	missense variant	-	NC_000020.11:g.32435060C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro783Ala	rs1320557612	missense variant	-	NC_000020.11:g.32435059C>G	TOPMed
ASXL1	Q8IXJ9	p.Asp784Asn	rs780602254	missense variant	-	NC_000020.11:g.32435062G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg786Lys	rs754070978	missense variant	-	NC_000020.11:g.32435069G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr787Asn	rs1290901944	missense variant	-	NC_000020.11:g.32435072C>A	gnomAD
ASXL1	Q8IXJ9	p.Thr787Ala	rs755243804	missense variant	-	NC_000020.11:g.32435071A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu788Ter	rs1402270258	stop gained	-	NC_000020.11:g.32435074G>T	TOPMed
ASXL1	Q8IXJ9	p.Cys789Trp	rs1163284834	missense variant	-	NC_000020.11:g.32435079T>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys789Tyr	rs1386308534	missense variant	-	NC_000020.11:g.32435078G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu790Ter	RCV000722668	nonsense	-	NC_000020.11:g.32435079dup	ClinVar
ASXL1	Q8IXJ9	p.Glu790Lys	rs748259651	missense variant	-	NC_000020.11:g.32435080G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly792Ala	rs377589713	missense variant	-	NC_000020.11:g.32435087G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr794Ala	rs777666293	missense variant	-	NC_000020.11:g.32435092A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser795Phe	rs746990403	missense variant	-	NC_000020.11:g.32435096C>T	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Trp796Ser	RCV000396645	missense variant	-	NC_000020.11:g.32435099G>C	ClinVar
ASXL1	Q8IXJ9	p.Trp796Ser	rs770674396	missense variant	-	NC_000020.11:g.32435099G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp796Ter	rs770674396	stop gained	-	NC_000020.11:g.32435099G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser798Gly	rs148047779	missense variant	-	NC_000020.11:g.32435104A>G	ESP
ASXL1	Q8IXJ9	p.Asp799Tyr	rs143594454	missense variant	-	NC_000020.11:g.32435107G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp799Tyr	RCV000120107	missense variant	-	NC_000020.11:g.32435107G>T	ClinVar
ASXL1	Q8IXJ9	p.Asp800Glu	rs1178321509	missense variant	-	NC_000020.11:g.32435112T>G	TOPMed
ASXL1	Q8IXJ9	p.Glu801Val	rs769490912	missense variant	-	NC_000020.11:g.32435114A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln803Ter	rs775071544	stop gained	-	NC_000020.11:g.32435119C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro805Thr	rs370929899	missense variant	-	NC_000020.11:g.32435125C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr806Ile	rs775227254	missense variant	-	NC_000020.11:g.32435129C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr806Pro	rs763556409	missense variant	-	NC_000020.11:g.32435128A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val807Ala	rs1223133675	missense variant	-	NC_000020.11:g.32435132T>C	TOPMed
ASXL1	Q8IXJ9	p.Val807Ile	RCV000297894	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435131G>A	ClinVar
ASXL1	Q8IXJ9	p.Val807Ile	rs138624526	missense variant	-	NC_000020.11:g.32435131G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808Ala	rs368640734	missense variant	-	NC_000020.11:g.32435134C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808Leu	rs141610022	missense variant	-	NC_000020.11:g.32435135C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808Ser	rs368640734	missense variant	-	NC_000020.11:g.32435134C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808His	rs141610022	missense variant	-	NC_000020.11:g.32435135C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp810Gly	rs765488094	missense variant	-	NC_000020.11:g.32435141A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn811Ser	RCV000336523	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435144A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn811Asp	rs752916428	missense variant	-	NC_000020.11:g.32435143A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn811Ser	rs758473430	missense variant	-	NC_000020.11:g.32435144A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro813Ser	rs1307463870	missense variant	-	NC_000020.11:g.32435149C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro813Leu	rs1386086869	missense variant	-	NC_000020.11:g.32435150C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro815Leu	rs6058694	missense variant	-	NC_000020.11:g.32435156C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val818Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435165T>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Asp820Val	rs1285319437	missense variant	-	NC_000020.11:g.32435171A>T	gnomAD
ASXL1	Q8IXJ9	p.Asp820Asn	rs757201886	missense variant	-	NC_000020.11:g.32435170G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp821Asn	rs1366325013	missense variant	-	NC_000020.11:g.32435173G>A	TOPMed
ASXL1	Q8IXJ9	p.Asp821Gly	rs780896078	missense variant	-	NC_000020.11:g.32435174A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr822Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435176A>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Leu823Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435179T>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Leu823Ser	rs140139096	missense variant	-	NC_000020.11:g.32435180T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu824Gln	rs532964069	missense variant	-	NC_000020.11:g.32435182G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu824Gly	rs775181549	missense variant	-	NC_000020.11:g.32435183A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys825Ile	rs748929407	missense variant	-	NC_000020.11:g.32435186A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly826Ter	RCV000479943	frameshift	-	NC_000020.11:g.32435189del	ClinVar
ASXL1	Q8IXJ9	p.Gly826Ter	rs774018728	stop gained	-	NC_000020.11:g.32435188G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly828Asp	rs372805894	missense variant	-	NC_000020.11:g.32435195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu831Phe	rs777338946	missense variant	-	NC_000020.11:g.32435203C>T	ExAC
ASXL1	Q8IXJ9	p.Asp832Ter	RCV000723267	frameshift	-	NC_000020.11:g.32435207_32435210del	ClinVar
ASXL1	Q8IXJ9	p.Asp832Gly	rs759926643	missense variant	-	NC_000020.11:g.32435207A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser833Asn	rs765560488	missense variant	-	NC_000020.11:g.32435210G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr836Pro	rs373580114	missense variant	-	NC_000020.11:g.32435218A>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr836Ala	rs373580114	missense variant	-	NC_000020.11:g.32435218A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met837Thr	rs1353280422	missense variant	-	NC_000020.11:g.32435222T>C	gnomAD
ASXL1	Q8IXJ9	p.Lys838Asn	rs763660723	missense variant	-	NC_000020.11:g.32435226G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys838Arg	RCV000437602	missense variant	-	NC_000020.11:g.32435225A>G	ClinVar
ASXL1	Q8IXJ9	p.Lys838Arg	rs35632616	missense variant	-	NC_000020.11:g.32435225A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro840Ser	COSM3545254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435230C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Val841Ala	rs751641574	missense variant	-	NC_000020.11:g.32435234T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn842Ser	rs367751731	missense variant	-	NC_000020.11:g.32435237A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val843Ala	rs750376029	missense variant	-	NC_000020.11:g.32435240T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser846GlnPheSerTerUnk	rs750170870	frameshift	-	NC_000020.11:g.32435242_32435243insC	NCI-TCGA,NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser846Asn	rs148575778	missense variant	-	NC_000020.11:g.32435249G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser846Arg	rs1233368049	missense variant	-	NC_000020.11:g.32435248A>C	gnomAD
ASXL1	Q8IXJ9	p.Ser851Phe	rs1167411017	missense variant	-	NC_000020.11:g.32435264C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser852Leu	rs371542005	missense variant	-	NC_000020.11:g.32435267C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro853Leu	rs147666865	missense variant	-	NC_000020.11:g.32435270C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys856Ter	rs140851370	stop gained	-	NC_000020.11:g.32435280C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln858Arg	rs1429658374	missense variant	-	NC_000020.11:g.32435285A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala861Ser	rs1170492819	missense variant	-	NC_000020.11:g.32435293G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp863Gly	rs764294559	missense variant	-	NC_000020.11:g.32435300A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp863His	COSM443636	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435299G>C	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Glu865Lys	rs147895689	missense variant	-	NC_000020.11:g.32435305G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu865Asp	rs767625019	missense variant	-	NC_000020.11:g.32435307A>T	ExAC
ASXL1	Q8IXJ9	p.Glu865Ter	rs147895689	stop gained	-	NC_000020.11:g.32435305G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu868Arg	rs1448291477	missense variant	-	NC_000020.11:g.32435315T>G	TOPMed
ASXL1	Q8IXJ9	p.Ser871Ter	COSM4832816	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435324C>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Cys872Ter	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32435299_32435300insATGACGAATTAGGGCTTGGTGGCTC	NCI-TCGA
ASXL1	Q8IXJ9	p.Cys872Trp	rs779837740	missense variant	-	NC_000020.11:g.32435328C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro873Leu	rs202098158	missense variant	-	NC_000020.11:g.32435330C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro873Ser	rs932939917	missense variant	-	NC_000020.11:g.32435329C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro874Ser	rs778687016	missense variant	-	NC_000020.11:g.32435332C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met875Val	rs747843845	missense variant	-	NC_000020.11:g.32435335A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met875Arg	rs1482135728	missense variant	-	NC_000020.11:g.32435336T>G	TOPMed
ASXL1	Q8IXJ9	p.Glu877Ala	rs771673303	missense variant	-	NC_000020.11:g.32435342A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser878Arg	rs777174656	missense variant	-	NC_000020.11:g.32435346T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser878Gly	rs1168526965	missense variant	-	NC_000020.11:g.32435344A>G	gnomAD
ASXL1	Q8IXJ9	p.Arg881Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435354G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg881Ter	rs746330612	stop gained	-	NC_000020.11:g.32435353A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln882Ter	rs770209084	stop gained	-	NC_000020.11:g.32435356C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys888Glu	rs1317256185	missense variant	-	NC_000020.11:g.32435374A>G	gnomAD
ASXL1	Q8IXJ9	p.Lys888Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435375A>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Ala889Thr	rs763287860	missense variant	-	NC_000020.11:g.32435377G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu890SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32435380C>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Val891Ile	rs774520876	missense variant	-	NC_000020.11:g.32435383G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser892Ala	COSM1411089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435386T>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser892Pro	rs1339444705	missense variant	-	NC_000020.11:g.32435386T>C	gnomAD
ASXL1	Q8IXJ9	p.Asn893Thr	rs762053816	missense variant	-	NC_000020.11:g.32435390A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser894Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435392A>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser895Cys	rs767583580	missense variant	-	NC_000020.11:g.32435396C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser895Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435396C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Leu896Ser	rs1204296403	missense variant	-	NC_000020.11:g.32435399T>C	gnomAD
ASXL1	Q8IXJ9	p.His897Arg	rs750481621	missense variant	-	NC_000020.11:g.32435402A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp898Ter	rs760592730	stop gained	-	NC_000020.11:g.32435406G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp898Cys	rs760592730	missense variant	-	NC_000020.11:g.32435406G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp898Ter	COSM5945422	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435405G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ile899Thr	rs766215027	missense variant	-	NC_000020.11:g.32435408T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro900Ser	COSM4097559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435410C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ile901Ser	rs753864486	missense variant	-	NC_000020.11:g.32435414T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile901Thr	rs753864486	missense variant	-	NC_000020.11:g.32435414T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro902Gln	rs886848485	missense variant	-	NC_000020.11:g.32435417C>A	TOPMed
ASXL1	Q8IXJ9	p.Pro902Ser	COSM4097561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435416C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser903Leu	rs754790367	missense variant	-	NC_000020.11:g.32435420C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn904Ser	rs765155567	missense variant	-	NC_000020.11:g.32435423A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp905Val	rs758140687	missense variant	-	NC_000020.11:g.32435426A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp905His	rs752352233	missense variant	-	NC_000020.11:g.32435425G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp905Gly	rs758140687	missense variant	-	NC_000020.11:g.32435426A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu906Gln	rs1402018333	missense variant	-	NC_000020.11:g.32435428G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu906Ter	rs1402018333	stop gained	-	NC_000020.11:g.32435428G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val907Ile	rs201990697	missense variant	-	NC_000020.11:g.32435431G>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro911Leu	rs780400187	missense variant	-	NC_000020.11:g.32435444C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro911Ser	rs371903529	missense variant	-	NC_000020.11:g.32435443C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys912Ter	rs749831576	stop gained	-	NC_000020.11:g.32435446A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu914Gly	rs1046040722	missense variant	-	NC_000020.11:g.32435453A>G	TOPMed
ASXL1	Q8IXJ9	p.Ile919Thr	rs549809573	missense variant	-	NC_000020.11:g.32435468T>C	1000Genomes,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Ser921Pro	rs1457205853	missense variant	-	NC_000020.11:g.32435473T>C	TOPMed
ASXL1	Q8IXJ9	p.Ser921ThrPheSerTerUnk	COSM1318845	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435468_32435469insACCA	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Val922Ter	RCV000623209	frameshift	Inborn genetic diseases	NC_000020.11:g.32435475_32435482delinsCAA	ClinVar
ASXL1	Q8IXJ9	p.Glu923Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435479G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro924Ala	rs772187243	missense variant	-	NC_000020.11:g.32435482C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln925Ter	rs387907077	stop gained	-	NC_000020.11:g.32435485C>T	-
ASXL1	Q8IXJ9	p.Gln925His	rs1201635933	missense variant	-	NC_000020.11:g.32435487G>C	gnomAD
ASXL1	Q8IXJ9	p.Gln925Ter	RCV000023976	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435485C>T	ClinVar
ASXL1	Q8IXJ9	p.Val926Ile	rs150338765	missense variant	-	NC_000020.11:g.32435488G>A	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val926Leu	rs150338765	missense variant	-	NC_000020.11:g.32435488G>C	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly927Arg	rs1270268473	missense variant	-	NC_000020.11:g.32435491G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu928Gly	rs1418949221	missense variant	-	NC_000020.11:g.32435495A>G	gnomAD
ASXL1	Q8IXJ9	p.Trp930Ter	RCV000760833	nonsense	-	NC_000020.11:g.32435502G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu931Ter	RCV000623598	frameshift	Inborn genetic diseases	NC_000020.11:g.32435503del	ClinVar
ASXL1	Q8IXJ9	p.Lys932Asn	rs886056600	missense variant	-	NC_000020.11:g.32435508A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala934Ser	rs773543958	missense variant	-	NC_000020.11:g.32435512G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro935Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435515C>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro937Ter	RCV000481700	frameshift	-	NC_000020.11:g.32435522del	ClinVar
ASXL1	Q8IXJ9	p.Leu940Val	rs1422246990	missense variant	-	NC_000020.11:g.32435530T>G	gnomAD
ASXL1	Q8IXJ9	p.Thr945Ile	rs1391377712	missense variant	-	NC_000020.11:g.32435546C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu947Gly	rs776670551	missense variant	-	NC_000020.11:g.32435552A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu948Lys	rs1173257390	missense variant	-	NC_000020.11:g.32435554G>A	gnomAD
ASXL1	Q8IXJ9	p.Asp951Asn	rs1021817273	missense variant	-	NC_000020.11:g.32435563G>A	TOPMed
ASXL1	Q8IXJ9	p.Asp951Gly	rs1162142245	missense variant	-	NC_000020.11:g.32435564A>G	TOPMed
ASXL1	Q8IXJ9	p.Pro952Ala	rs1337364512	missense variant	-	NC_000020.11:g.32435566C>G	gnomAD
ASXL1	Q8IXJ9	p.Leu953Phe	rs759572953	missense variant	-	NC_000020.11:g.32435569C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp954Glu	rs752471895	missense variant	-	NC_000020.11:g.32435574C>A	TOPMed
ASXL1	Q8IXJ9	p.Ser955Gly	rs369771079	missense variant	-	NC_000020.11:g.32435575A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser955Ile	rs752548239	missense variant	-	NC_000020.11:g.32435576G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu956Val	rs1236179195	missense variant	-	NC_000020.11:g.32435578C>G	TOPMed
ASXL1	Q8IXJ9	p.Thr957Ala	rs1266042922	missense variant	-	NC_000020.11:g.32435581A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr957Pro	rs1266042922	missense variant	-	NC_000020.11:g.32435581A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser958Leu	rs763638795	missense variant	-	NC_000020.11:g.32435585C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu959His	rs751271712	missense variant	-	NC_000020.11:g.32435588T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Trp960Ter	rs756688220	stop gained	-	NC_000020.11:g.32435592G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Trp960Ter	rs1438791925	stop gained	-	NC_000020.11:g.32435591G>A	gnomAD
ASXL1	Q8IXJ9	p.Val962Ala	rs1442331965	missense variant	-	NC_000020.11:g.32435597T>C	gnomAD
ASXL1	Q8IXJ9	p.Pro963Leu	rs1164938216	missense variant	-	NC_000020.11:g.32435600C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser964Phe	rs749746806	missense variant	-	NC_000020.11:g.32435603C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg965Ter	RCV000255108	nonsense	-	NC_000020.11:g.32435605C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg965Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435606G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg965Ter	RCV000032665	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435605C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg965Ter	rs397515401	stop gained	-	NC_000020.11:g.32435605C>T	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Asp969Asn	rs1461025360	missense variant	-	NC_000020.11:g.32435617G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser970Gly	RCV000309886	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435620A>G	ClinVar
ASXL1	Q8IXJ9	p.Ser970Gly	rs886056601	missense variant	-	NC_000020.11:g.32435620A>G	TOPMed
ASXL1	Q8IXJ9	p.Asn971Ser	rs779180512	missense variant	-	NC_000020.11:g.32435624A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn971Lys	rs199785280	missense variant	-	NC_000020.11:g.32435625T>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly972Val	rs748505783	missense variant	-	NC_000020.11:g.32435627G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser973Asn	rs773277713	missense variant	-	NC_000020.11:g.32435630G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser973Gly	rs772538894	missense variant	-	NC_000020.11:g.32435629A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr974LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32435630_32435631insT	NCI-TCGA
ASXL1	Q8IXJ9	p.Tyr974His	rs747287523	missense variant	-	NC_000020.11:g.32435632T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Tyr974Ter	RCV000255194	nonsense	-	NC_000020.11:g.32435634C>A	ClinVar
ASXL1	Q8IXJ9	p.Tyr974Ter	rs886039722	stop gained	-	NC_000020.11:g.32435634C>A	-
ASXL1	Q8IXJ9	p.Gln976Glu	rs776868653	missense variant	-	NC_000020.11:g.32435638C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln976Ter	rs776868653	stop gained	-	NC_000020.11:g.32435638C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln977Ter	rs1366953593	stop gained	-	NC_000020.11:g.32435641C>T	TOPMed
ASXL1	Q8IXJ9	p.Asp979His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435647G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Ile980Val	rs765264117	missense variant	-	NC_000020.11:g.32435650A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile980Asn	rs775628738	missense variant	-	NC_000020.11:g.32435651T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu981Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435653G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu981Lys	rs762630959	missense variant	-	NC_000020.11:g.32435653G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu981Gly	rs763987748	missense variant	-	NC_000020.11:g.32435654A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys982Ter	rs1462930926	stop gained	-	NC_000020.11:g.32435656A>T	gnomAD
ASXL1	Q8IXJ9	p.Lys984Ile	rs1183288483	missense variant	-	NC_000020.11:g.32435663A>T	gnomAD
ASXL1	Q8IXJ9	p.Asn986Ser	rs145132837	missense variant	-	NC_000020.11:g.32435669A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn986Ser	RCV000362320	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435669A>G	ClinVar
ASXL1	Q8IXJ9	p.Gly987Arg	rs376074119	missense variant	-	NC_000020.11:g.32435671G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp988Glu	rs749938743	missense variant	-	NC_000020.11:g.32435676C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp988Ter	RCV000481961	nonsense	-	NC_000020.11:g.32435676_32435677CT[1]	ClinVar
ASXL1	Q8IXJ9	p.Ser989Phe	rs1362999533	missense variant	-	NC_000020.11:g.32435678C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu990Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435681A>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser993Asn	rs1226960123	missense variant	-	NC_000020.11:g.32435690G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro994Leu	rs779372602	missense variant	-	NC_000020.11:g.32435693C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly996Ser	rs1297740523	missense variant	-	NC_000020.11:g.32435698G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu997Lys	rs786205552	missense variant	-	NC_000020.11:g.32435701G>A	TOPMed
ASXL1	Q8IXJ9	p.Glu997Gln	RCV000171345	missense variant	-	NC_000020.11:g.32435701G>C	ClinVar
ASXL1	Q8IXJ9	p.Glu997Gln	rs786205552	missense variant	-	NC_000020.11:g.32435701G>C	TOPMed
ASXL1	Q8IXJ9	p.Glu997Ter	COSM478003	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435701G>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser998Thr	rs758650315	missense variant	-	NC_000020.11:g.32435704T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr999Met	rs778222400	missense variant	-	NC_000020.11:g.32435708C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1000His	rs771192600	missense variant	-	NC_000020.11:g.32435710G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1000Gly	rs781631529	missense variant	-	NC_000020.11:g.32435711A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1000Val	rs781631529	missense variant	-	NC_000020.11:g.32435711A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1001Ala	rs1217127877	missense variant	-	NC_000020.11:g.32435713A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1003Ala	rs1222268104	missense variant	-	NC_000020.11:g.32435719T>G	TOPMed
ASXL1	Q8IXJ9	p.Asp1004Asn	COSM4097563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435722G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Glu1006Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.32435728G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu1006Lys	COSM443638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435728G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Thr1010Met	rs116112525	missense variant	-	NC_000020.11:g.32435741C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1010Met	RCV000322609	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435741C>T	ClinVar
ASXL1	Q8IXJ9	p.Thr1010Arg	rs116112525	missense variant	-	NC_000020.11:g.32435741C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1014Asn	rs762976045	missense variant	-	NC_000020.11:g.32435753G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1014Thr	rs762976045	missense variant	-	NC_000020.11:g.32435753G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1014Arg	rs1358222587	missense variant	-	NC_000020.11:g.32435752A>C	TOPMed
ASXL1	Q8IXJ9	p.Glu1015Gly	rs774209416	missense variant	-	NC_000020.11:g.32435756A>G	ExAC
ASXL1	Q8IXJ9	p.Ala1016GlnTer	RCV000483005	nonsense	-	NC_000020.11:g.32435751_32435757dup	ClinVar
ASXL1	Q8IXJ9	p.Ala1016Ter	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32435756_32435777AGGCTGACACTAGAGAAGCTGC>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Ala1016Val	rs1470848941	missense variant	-	NC_000020.11:g.32435759C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1017His	rs1465626973	missense variant	-	NC_000020.11:g.32435761G>C	gnomAD
ASXL1	Q8IXJ9	p.Asp1017Ala	rs545071926	missense variant	-	NC_000020.11:g.32435762A>C	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1018Pro	rs560170731	missense variant	-	NC_000020.11:g.32435764A>C	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1018Ser	rs560170731	missense variant	-	NC_000020.11:g.32435764A>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1019Ser	rs1451811723	missense variant	-	NC_000020.11:g.32435769A>C	gnomAD
ASXL1	Q8IXJ9	p.Arg1019Gly	rs760148910	missense variant	-	NC_000020.11:g.32435767A>G	ExAC
ASXL1	Q8IXJ9	p.Glu1020Lys	rs765907136	missense variant	-	NC_000020.11:g.32435770G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1022Val	rs1170698088	missense variant	-	NC_000020.11:g.32435777C>T	TOPMed
ASXL1	Q8IXJ9	p.Lys1025Thr	rs1341269354	missense variant	-	NC_000020.11:g.32435786A>C	gnomAD
ASXL1	Q8IXJ9	p.Ser1028Ter	rs200702600	stop gained	-	NC_000020.11:g.32435795C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1028Leu	rs200702600	missense variant	-	NC_000020.11:g.32435795C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1028Leu	RCV000120095	missense variant	-	NC_000020.11:g.32435795C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1028Ala	rs1046578139	missense variant	-	NC_000020.11:g.32435794T>G	TOPMed
ASXL1	Q8IXJ9	p.Ser1028Ter	RCV000023978	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435795C>A	ClinVar
ASXL1	Q8IXJ9	p.Asp1030Gly	rs758957849	missense variant	-	NC_000020.11:g.32435801A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1032Ala	rs377541442	missense variant	-	NC_000020.11:g.32435807A>C	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1033Val	rs192330235	missense variant	-	NC_000020.11:g.32435810A>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1034Glu	COSM256359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435812A>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Lys1034Asn	rs751952846	missense variant	-	NC_000020.11:g.32435814A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1036Ser	rs757758145	missense variant	-	NC_000020.11:g.32435819A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1036Lys	rs781544629	missense variant	-	NC_000020.11:g.32435820T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp1037Ter	rs1555912419	stop gained	-	NC_000020.11:g.32435823G>A	-
ASXL1	Q8IXJ9	p.Trp1037Ter	RCV000622812	nonsense	Inborn genetic diseases	NC_000020.11:g.32435823G>A	ClinVar
ASXL1	Q8IXJ9	p.Gln1039Ter	rs1221031683	stop gained	-	NC_000020.11:g.32435827C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala1041Val	rs769951435	missense variant	-	NC_000020.11:g.32435834C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1041ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32435833G>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1044Cys	rs1191559798	missense variant	-	NC_000020.11:g.32435843C>G	gnomAD
ASXL1	Q8IXJ9	p.Lys1045Arg	rs780299749	missense variant	-	NC_000020.11:g.32435846A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1046Ala	rs749118360	missense variant	-	NC_000020.11:g.32435849T>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1046Met	rs1417067472	missense variant	-	NC_000020.11:g.32435848G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly1048Ser	rs1361367953	missense variant	-	NC_000020.11:g.32435854G>A	gnomAD
ASXL1	Q8IXJ9	p.Asp1049Ter	RCV000255751	frameshift	-	NC_000020.11:g.32435856_32435857del	ClinVar
ASXL1	Q8IXJ9	p.Met1050Thr	rs374141406	missense variant	-	NC_000020.11:g.32435861T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1050Val	rs370804022	missense variant	-	NC_000020.11:g.32435860A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1051Cys	rs768333722	missense variant	-	NC_000020.11:g.32435863C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1051His	rs771896604	missense variant	-	NC_000020.11:g.32435864G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1051Ser	rs768333722	missense variant	-	NC_000020.11:g.32435863C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1057Glu	rs772813587	missense variant	-	NC_000020.11:g.32435883T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1058Arg	rs760343023	missense variant	-	NC_000020.11:g.32435884G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1060Ile	rs138521991	missense variant	-	NC_000020.11:g.32435890G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1062Ser	rs776213974	missense variant	-	NC_000020.11:g.32435896C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1063Ter	rs1311033207	stop gained	-	NC_000020.11:g.32435899C>T	gnomAD
ASXL1	Q8IXJ9	p.Trp1065Arg	rs1353911031	missense variant	-	NC_000020.11:g.32435905T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp1065Ter	COSM1565849	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32435907G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser1067Phe	rs759039831	missense variant	-	NC_000020.11:g.32435912C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1068Ter	rs764651405	stop gained	-	NC_000020.11:g.32435914C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1068Ter	RCV000655943	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435914C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg1068Gln	rs752058283	missense variant	-	NC_000020.11:g.32435915G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1069Ile	rs560992020	missense variant	-	NC_000020.11:g.32435917G>A	1000Genomes,ExAC
ASXL1	Q8IXJ9	p.Cys1070Tyr	rs1222290644	missense variant	-	NC_000020.11:g.32435921G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1071Thr	rs768022784	missense variant	-	NC_000020.11:g.32435923G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1071Val	rs531415735	missense variant	-	NC_000020.11:g.32435924C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1071Val	RCV000361222	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435924C>T	ClinVar
ASXL1	Q8IXJ9	p.Val1072Asp	rs779930291	missense variant	-	NC_000020.11:g.32435927T>A	ExAC
ASXL1	Q8IXJ9	p.Arg1073Cys	rs549552934	missense variant	-	NC_000020.11:g.32435929C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1073Ser	rs549552934	missense variant	-	NC_000020.11:g.32435929C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1073Pro	rs1444168328	missense variant	-	NC_000020.11:g.32435930G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1073Leu	COSM4397819	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435930G>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Arg1073His	rs1444168328	missense variant	-	NC_000020.11:g.32435930G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1077Ser	rs1161902700	missense variant	-	NC_000020.11:g.32435941C>T	gnomAD
ASXL1	Q8IXJ9	p.Asp1078Tyr	rs1416128377	missense variant	-	NC_000020.11:g.32435944G>T	gnomAD
ASXL1	Q8IXJ9	p.Ser1079Pro	rs778886643	missense variant	-	NC_000020.11:g.32435947T>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1083Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435959G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro1089Ser	rs1237208885	missense variant	-	NC_000020.11:g.32435977C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1089Leu	rs1182142498	missense variant	-	NC_000020.11:g.32435978C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg1090Thr	COSM3799434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32435981G>C	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Val1092Met	rs771806916	missense variant	-	NC_000020.11:g.32435986G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1095Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32435995T>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1095Cys	rs746598633	missense variant	-	NC_000020.11:g.32435996C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1096Ile	rs1305212991	missense variant	-	NC_000020.11:g.32436000G>T	TOPMed
ASXL1	Q8IXJ9	p.Met1096Val	rs770570065	missense variant	-	NC_000020.11:g.32435998A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1097Leu	rs1274527593	missense variant	-	NC_000020.11:g.32436002C>T	TOPMed
ASXL1	Q8IXJ9	p.Ser1100Ter	COSM3423575	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32436011C>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Glu1102Asp	rs139115934	missense variant	-	NC_000020.11:g.32436018G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1102LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32436015_32436016insCTTCA	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu1102Asp	RCV000120108	missense variant	-	NC_000020.11:g.32436018G>T	ClinVar
ASXL1	Q8IXJ9	p.Thr1104Ser	rs759066149	missense variant	-	NC_000020.11:g.32436023C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1104Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436023C>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Thr1104Ala	rs952607481	missense variant	-	NC_000020.11:g.32436022A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1105Tyr	rs764696313	missense variant	-	NC_000020.11:g.32436025A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1108Met	rs1182034797	missense variant	-	NC_000020.11:g.32436034G>A	gnomAD
ASXL1	Q8IXJ9	p.Val1108Ala	rs1454365420	missense variant	-	NC_000020.11:g.32436035T>C	TOPMed
ASXL1	Q8IXJ9	p.Met1109Ile	rs750818466	missense variant	-	NC_000020.11:g.32436039G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1109Thr	rs767930961	missense variant	-	NC_000020.11:g.32436038T>C	ExAC
ASXL1	Q8IXJ9	p.Met1109Val	rs1239404668	missense variant	-	NC_000020.11:g.32436037A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1110Glu	rs756612309	missense variant	-	NC_000020.11:g.32436040C>G	ExAC
ASXL1	Q8IXJ9	p.Leu1112Met	rs370068525	missense variant	-	NC_000020.11:g.32436046C>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1115Asn	rs1418007201	missense variant	-	NC_000020.11:g.32436056G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser1115Gly	COSM723121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436055A>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Pro1117Ser	rs1172005201	missense variant	-	NC_000020.11:g.32436061C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro1117Leu	COSM723120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436062C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Glu1119Asp	rs1450882082	missense variant	-	NC_000020.11:g.32436069G>C	gnomAD
ASXL1	Q8IXJ9	p.Lys1120Met	rs778883995	missense variant	-	NC_000020.11:g.32436071A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1121Ile	rs961492113	missense variant	-	NC_000020.11:g.32436073G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1121Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436073G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro1123Leu	rs11549643	missense variant	-	NC_000020.11:g.32436080C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1124Leu	rs777758375	missense variant	-	NC_000020.11:g.32436083C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1124Ser	rs758338148	missense variant	-	NC_000020.11:g.32436082C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1125Val	rs1258611317	missense variant	-	NC_000020.11:g.32436086C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His1126Tyr	rs746797164	missense variant	-	NC_000020.11:g.32436088C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1127Glu	rs565958361	missense variant	-	NC_000020.11:g.32436093T>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1127Asn	rs201009558	missense variant	-	NC_000020.11:g.32436091G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1128Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436094G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1131Pro	rs774873057	missense variant	-	NC_000020.11:g.32436103T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu1132Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436106G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1133Phe	rs1244161898	missense variant	-	NC_000020.11:g.32436110C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1134Ala	rs1479950391	missense variant	-	NC_000020.11:g.32436112C>G	TOPMed
ASXL1	Q8IXJ9	p.Pro1134Leu	rs367744979	missense variant	-	NC_000020.11:g.32436113C>T	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1135Arg	rs773913292	missense variant	-	NC_000020.11:g.32436116A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1135Glu	rs1429162146	missense variant	-	NC_000020.11:g.32436115C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1136Leu	rs766691864	missense variant	-	NC_000020.11:g.32436118G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1136Ile	rs766691864	missense variant	-	NC_000020.11:g.32436118G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1139Arg	rs371545683	missense variant	-	NC_000020.11:g.32436128C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1139Ala	rs1414751361	missense variant	-	NC_000020.11:g.32436127A>G	gnomAD
ASXL1	Q8IXJ9	p.Thr1139Lys	rs371545683	missense variant	-	NC_000020.11:g.32436128C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1139Ile	rs371545683	missense variant	-	NC_000020.11:g.32436128C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1141Ala	rs765294324	missense variant	-	NC_000020.11:g.32436134A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1143Arg	rs752770575	missense variant	-	NC_000020.11:g.32436139A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His1144Arg	rs758535168	missense variant	-	NC_000020.11:g.32436143A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1145Asp	rs777670355	missense variant	-	NC_000020.11:g.32436146G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1145Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436145G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1146Leu	rs757040754	missense variant	-	NC_000020.11:g.32436149C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1148Leu	rs555465153	missense variant	-	NC_000020.11:g.32436155G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1148His	rs555465153	missense variant	-	NC_000020.11:g.32436155G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1148Cys	rs139435094	missense variant	-	NC_000020.11:g.32436154C>T	ESP,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Arg1148Cys	RCV000120096	missense variant	-	NC_000020.11:g.32436154C>T	ClinVar
ASXL1	Q8IXJ9	p.Met1149Val	rs1217380834	missense variant	-	NC_000020.11:g.32436157A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1149Ile	rs370415624	missense variant	-	NC_000020.11:g.32436159G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1149Thr	rs779916654	missense variant	-	NC_000020.11:g.32436158T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1149Leu	rs1217380834	missense variant	-	NC_000020.11:g.32436157A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1150Val	rs773823004	missense variant	-	NC_000020.11:g.32436161G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1150Glu	rs773823004	missense variant	-	NC_000020.11:g.32436161G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1150Arg	rs374632491	missense variant	-	NC_000020.11:g.32436160G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1152Ser	rs1417772319	missense variant	-	NC_000020.11:g.32436167T>C	TOPMed
ASXL1	Q8IXJ9	p.His1153Arg	rs761116566	missense variant	-	NC_000020.11:g.32436170A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1154Arg	rs199571804	missense variant	-	NC_000020.11:g.32436172G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1154Cys	rs199571804	missense variant	-	NC_000020.11:g.32436172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1154Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436173G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Leu1155Ile	rs776864243	missense variant	-	NC_000020.11:g.32436175C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1157Glu	rs570096882	missense variant	-	NC_000020.11:g.32436181A>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys1157Arg	rs752970560	missense variant	-	NC_000020.11:g.32436182A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn1158ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32436180A>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Asn1158Lys	rs1350655725	missense variant	-	NC_000020.11:g.32436186C>A	gnomAD
ASXL1	Q8IXJ9	p.Met1161Thr	rs764192497	missense variant	-	NC_000020.11:g.32436194T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1161Ile	rs1224195364	missense variant	-	NC_000020.11:g.32436195G>A	TOPMed
ASXL1	Q8IXJ9	p.Asp1163Asn	rs371131434	missense variant	-	NC_000020.11:g.32436199G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1163Gly	rs780969167	missense variant	-	NC_000020.11:g.32436200A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1164Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.32436202G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1166Arg	RCV000120097	missense variant	-	NC_000020.11:g.32436210C>G	ClinVar
ASXL1	Q8IXJ9	p.Ser1166Arg	rs75887545	missense variant	-	NC_000020.11:g.32436210C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1167Ala	rs1307576046	missense variant	-	NC_000020.11:g.32436211C>G	TOPMed
ASXL1	Q8IXJ9	p.Ser1168Thr	rs587778062	missense variant	-	NC_000020.11:g.32436215G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1168Arg	rs1291218446	missense variant	-	NC_000020.11:g.32436214A>C	gnomAD
ASXL1	Q8IXJ9	p.Ser1168Thr	RCV000315916	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436215G>C	ClinVar
ASXL1	Q8IXJ9	p.Ser1169Tyr	rs1212204313	missense variant	-	NC_000020.11:g.32436218C>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1172Thr	rs748986962	missense variant	-	NC_000020.11:g.32436226G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1173Ser	rs768239600	missense variant	-	NC_000020.11:g.32436230T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys1174Asn	rs747485168	missense variant	-	NC_000020.11:g.32436234G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1175Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436235G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Leu1177Arg	rs1158866700	missense variant	-	NC_000020.11:g.32436242T>G	gnomAD
ASXL1	Q8IXJ9	p.Asp1180Gly	rs746200411	missense variant	-	NC_000020.11:g.32436251A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1180His	rs777253679	missense variant	-	NC_000020.11:g.32436250G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1180Asn	rs777253679	missense variant	-	NC_000020.11:g.32436250G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1180Glu	rs148597247	missense variant	-	NC_000020.11:g.32436252T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1183Ala	rs1160418769	missense variant	-	NC_000020.11:g.32436260A>C	TOPMed
ASXL1	Q8IXJ9	p.Thr1186Pro	rs147905623	missense variant	-	NC_000020.11:g.32436268A>C	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1186Ile	COSM3840736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436269C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Gly1187Asp	rs755170442	missense variant	-	NC_000020.11:g.32436272G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1187Val	rs755170442	missense variant	-	NC_000020.11:g.32436272G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1188Ile	rs774416906	missense variant	-	NC_000020.11:g.32436274C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1190Lys	rs779117478	missense variant	-	NC_000020.11:g.32436281G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1191Phe	rs767340580	missense variant	-	NC_000020.11:g.32436283A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1191Val	rs767340580	missense variant	-	NC_000020.11:g.32436283A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu1192Val	rs927802180	missense variant	-	NC_000020.11:g.32436287A>T	TOPMed
ASXL1	Q8IXJ9	p.Thr1194Ile	rs1266573048	missense variant	-	NC_000020.11:g.32436293C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala1196Thr	rs1339242781	missense variant	-	NC_000020.11:g.32436298G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1196Val	rs766307575	missense variant	-	NC_000020.11:g.32436299C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1197Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436302C>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro1197Ser	rs753491851	missense variant	-	NC_000020.11:g.32436301C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1198Arg	rs1178916301	missense variant	-	NC_000020.11:g.32436304G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly1198Val	COSM443639	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436305G>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ala1199Thr	rs959073235	missense variant	-	NC_000020.11:g.32436307G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala1199Val	rs1275445999	missense variant	-	NC_000020.11:g.32436308C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro1200Leu	rs754682331	missense variant	-	NC_000020.11:g.32436311C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1201Arg	rs778774838	missense variant	-	NC_000020.11:g.32436314A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1202Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436318G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Cys1204Trp	rs201397030	missense variant	-	NC_000020.11:g.32436324C>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys1204Phe	rs1166225514	missense variant	-	NC_000020.11:g.32436323G>T	gnomAD
ASXL1	Q8IXJ9	p.Cys1204Trp	RCV000352132	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436324C>G	ClinVar
ASXL1	Q8IXJ9	p.Ala1206Thr	rs757978318	missense variant	-	NC_000020.11:g.32436328G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1207Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436331G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro1208Leu	rs746422436	missense variant	-	NC_000020.11:g.32436335C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1209Asn	COSM1025732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436338G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser1212Phe	RCV000171346	missense variant	-	NC_000020.11:g.32436347C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1212Phe	rs542568224	missense variant	-	NC_000020.11:g.32436347C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1213Ter	RCV000779755	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32436349del	ClinVar
ASXL1	Q8IXJ9	p.Leu1213Ter	RCV000627531	frameshift	-	NC_000020.11:g.32436345_32436348CTCC[1]	ClinVar
ASXL1	Q8IXJ9	p.His1214Gln	rs1225413009	missense variant	-	NC_000020.11:g.32436354T>A	TOPMed
ASXL1	Q8IXJ9	p.Val1216Leu	rs200817247	missense variant	-	NC_000020.11:g.32436358G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1219Ser	rs774688930	missense variant	-	NC_000020.11:g.32436367C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1220Phe	rs761774988	missense variant	-	NC_000020.11:g.32436370A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1221Lys	rs545612479	missense variant	-	NC_000020.11:g.32436374C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1221Lys	RCV000120098	missense variant	-	NC_000020.11:g.32436374C>A	ClinVar
ASXL1	Q8IXJ9	p.Ser1222Ala	rs760710389	missense variant	-	NC_000020.11:g.32436376T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1223Phe	rs1256319244	missense variant	-	NC_000020.11:g.32436380C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1224Thr	rs543240313	missense variant	-	NC_000020.11:g.32436383G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1225Asn	rs753682901	missense variant	-	NC_000020.11:g.32436387A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1226Arg	rs564721149	missense variant	-	NC_000020.11:g.32436389T>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1226Gln	rs564721149	missense variant	-	NC_000020.11:g.32436389T>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1227Lys	rs752436984	missense variant	-	NC_000020.11:g.32436391G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu1228Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436394G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu1228Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436394G>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Glu1228Ter	COSM1025733	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32436394G>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Asp1230His	rs150977407	missense variant	-	NC_000020.11:g.32436400G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1230Asn	rs150977407	missense variant	-	NC_000020.11:g.32436400G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1230Tyr	rs150977407	missense variant	-	NC_000020.11:g.32436400G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1231Phe	rs74638057	missense variant	-	NC_000020.11:g.32436404C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1231Phe	RCV000295106	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436404C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1231Phe	RCV000120099	missense variant	-	NC_000020.11:g.32436404C>T	ClinVar
ASXL1	Q8IXJ9	p.Glu1233Gly	rs1303628314	missense variant	-	NC_000020.11:g.32436410A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1234Ter	RCV000679929	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436412C>T	ClinVar
ASXL1	Q8IXJ9	p.Phe1235Val	rs1280682119	missense variant	-	NC_000020.11:g.32436415T>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1236Ala	rs780599775	missense variant	-	NC_000020.11:g.32436418T>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1237Phe	rs749636650	missense variant	-	NC_000020.11:g.32436422C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1237Pro	rs1182744697	missense variant	-	NC_000020.11:g.32436421T>C	TOPMed
ASXL1	Q8IXJ9	p.Phe1238Cys	rs769054940	missense variant	-	NC_000020.11:g.32436425T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys1240Arg	rs778970085	missense variant	-	NC_000020.11:g.32436430T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu1241Lys	rs372409311	missense variant	-	NC_000020.11:g.32436433G>A	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1244Glu	rs771995556	missense variant	-	NC_000020.11:g.32436442A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1246Asp	COSM1025734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436449T>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Arg1247Ser	rs146747814	missense variant	-	NC_000020.11:g.32436451C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1247Cys	rs146747814	missense variant	-	NC_000020.11:g.32436451C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1247His	rs760905906	missense variant	-	NC_000020.11:g.32436452G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1249Val	rs146141075	missense variant	-	NC_000020.11:g.32436457A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1249Thr	rs776760001	missense variant	-	NC_000020.11:g.32436458T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1249Val	RCV000345347	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436457A>G	ClinVar
ASXL1	Q8IXJ9	p.Gln1251Arg	rs1177102722	missense variant	-	NC_000020.11:g.32436464A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1251Ter	RCV000578410	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436466_32436470del	ClinVar
ASXL1	Q8IXJ9	p.Asp1252Gly	rs202102305	missense variant	-	NC_000020.11:g.32436467A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1252Asn	rs183833909	missense variant	-	NC_000020.11:g.32436466G>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1253Arg	rs4911231	missense variant	-	NC_000020.11:g.32436471T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1253Gly	rs1299065255	missense variant	-	NC_000020.11:g.32436469A>G	gnomAD
ASXL1	Q8IXJ9	p.Asn1254Ser	rs587778059	missense variant	-	NC_000020.11:g.32436473A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1254Ser	RCV000120094	missense variant	-	NC_000020.11:g.32436473A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn1256Ile	rs763441935	missense variant	-	NC_000020.11:g.32436479A>T	ExAC
ASXL1	Q8IXJ9	p.Ala1257Val	rs1274163222	missense variant	-	NC_000020.11:g.32436482C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1258Ser	rs1015611473	missense variant	-	NC_000020.11:g.32436484G>T	TOPMed
ASXL1	Q8IXJ9	p.Ala1258Val	rs971677757	missense variant	-	NC_000020.11:g.32436485C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro1259Leu	rs201338763	missense variant	-	NC_000020.11:g.32436488C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1259Leu	RCV000310306	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436488C>T	ClinVar
ASXL1	Q8IXJ9	p.Lys1261Arg	rs780513703	missense variant	-	NC_000020.11:g.32436494A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1262Arg	rs754382000	missense variant	-	NC_000020.11:g.32436498C>G	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Gly1264Arg	rs368407827	missense variant	-	NC_000020.11:g.32436502G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1265Tyr	rs200527840	missense variant	-	NC_000020.11:g.32436505G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1266Val	rs772335046	missense variant	-	NC_000020.11:g.32436508C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1267Asn	rs368889231	missense variant	-	NC_000020.11:g.32436512C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1267Asn	RCV000224799	missense variant	-	NC_000020.11:g.32436512C>A	ClinVar
ASXL1	Q8IXJ9	p.Thr1268Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436514A>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1269Leu	rs747065583	missense variant	-	NC_000020.11:g.32436518C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1270Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436521G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Arg1270Gly	rs776674404	missense variant	-	NC_000020.11:g.32436520A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1271Ala	rs759571048	missense variant	-	NC_000020.11:g.32436523A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1272Ala	rs542860516	missense variant	-	NC_000020.11:g.32436526C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1272Ser	rs542860516	missense variant	-	NC_000020.11:g.32436526C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1272Thr	rs542860516	missense variant	-	NC_000020.11:g.32436526C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1272His	rs775363893	missense variant	-	NC_000020.11:g.32436527C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1273Cys	rs587778060	missense variant	-	NC_000020.11:g.32436529C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1273His	rs762720533	missense variant	-	NC_000020.11:g.32436530G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1273Cys	RCV000120100	missense variant	-	NC_000020.11:g.32436529C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1275Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436535T>C	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1276Phe	rs763784731	missense variant	-	NC_000020.11:g.32436539C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1279Met	COSM3799438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436547G>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ile1280Thr	rs1327515633	missense variant	-	NC_000020.11:g.32436551T>C	TOPMed
ASXL1	Q8IXJ9	p.Gly1283Ser	rs751259103	missense variant	-	NC_000020.11:g.32436559G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1284Ala	rs761279083	missense variant	-	NC_000020.11:g.32436562C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1286Arg	rs1227209031	missense variant	-	NC_000020.11:g.32436569A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly1288Asp	rs1396654725	missense variant	-	NC_000020.11:g.32436575G>A	TOPMed
ASXL1	Q8IXJ9	p.Arg1289Trp	rs201302084	missense variant	-	NC_000020.11:g.32436577C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1289Gln	rs755522655	missense variant	-	NC_000020.11:g.32436578G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1290Val	rs779080154	missense variant	-	NC_000020.11:g.32436581C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1292Val	rs1237413045	missense variant	-	NC_000020.11:g.32436587G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp1293Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436589G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1295Asn	rs1180789984	missense variant	-	NC_000020.11:g.32436596G>A	gnomAD
ASXL1	Q8IXJ9	p.Asn1296Lys	rs753093028	missense variant	-	NC_000020.11:g.32436600T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1297Ile	rs140137262	missense variant	-	NC_000020.11:g.32436601G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1297Ile	RCV000120110	missense variant	-	NC_000020.11:g.32436601G>A	ClinVar
ASXL1	Q8IXJ9	p.Thr1298Ile	rs778027986	missense variant	-	NC_000020.11:g.32436605C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1299Asp	rs1416591993	missense variant	-	NC_000020.11:g.32436608G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln1300Ter	RCV000414513	frameshift	-	NC_000020.11:g.32436606_32436609dup	ClinVar
ASXL1	Q8IXJ9	p.Leu1304Val	RCV000514197	missense variant	-	NC_000020.11:g.32436622C>G	ClinVar
ASXL1	Q8IXJ9	p.Leu1304Val	rs747267907	missense variant	-	NC_000020.11:g.32436622C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1304Ile	rs747267907	missense variant	-	NC_000020.11:g.32436622C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Phe1305Ser	rs745736272	missense variant	-	NC_000020.11:g.32436626T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Phe1305Tyr	rs745736272	missense variant	-	NC_000020.11:g.32436626T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Phe1305LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32436623T>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Phe1305Tyr	RCV000364864	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436626T>A	ClinVar
ASXL1	Q8IXJ9	p.Gly1306Val	rs769761920	missense variant	-	NC_000020.11:g.32436629G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1306GluPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000020.11:g.32436628_32436629insAAGGAGCCTCTTCTGCCAGATA	NCI-TCGA
ASXL1	Q8IXJ9	p.Gly1306Asp	rs769761920	missense variant	-	NC_000020.11:g.32436629G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1308Glu	rs1294298793	missense variant	-	NC_000020.11:g.32436635G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala1312Val	RCV000397788	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436647C>T	ClinVar
ASXL1	Q8IXJ9	p.Ala1312Val	rs148144203	missense variant	-	NC_000020.11:g.32436647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1312Ser	COSM723115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436646G>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Leu1314Phe	rs376070210	missense variant	-	NC_000020.11:g.32436652C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1316His	rs369419785	missense variant	-	NC_000020.11:g.32436659G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1316Leu	rs369419785	missense variant	-	NC_000020.11:g.32436659G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1316Cys	rs773951405	missense variant	-	NC_000020.11:g.32436658C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1318Trp	rs373632896	missense variant	-	NC_000020.11:g.32436664A>T	ESP,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Ala1320Val	rs760162421	missense variant	-	NC_000020.11:g.32436671C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1322Leu	rs141930107	missense variant	-	NC_000020.11:g.32436677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1322Arg	rs141930107	missense variant	-	NC_000020.11:g.32436677C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1322Arg	RCV000301881	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436677C>G	ClinVar
ASXL1	Q8IXJ9	p.Met1323Val	rs1399861829	missense variant	-	NC_000020.11:g.32436679A>G	TOPMed
ASXL1	Q8IXJ9	p.Met1323Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436680T>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Leu1325Phe	rs6057581	missense variant	-	NC_000020.11:g.32436685C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1325Phe	RCV000361233	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436685C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro1326Arg	rs757562094	missense variant	-	NC_000020.11:g.32436689C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1326Leu	rs757562094	missense variant	-	NC_000020.11:g.32436689C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1329Phe	rs1193631121	missense variant	-	NC_000020.11:g.32436697A>T	gnomAD
ASXL1	Q8IXJ9	p.Pro1330Leu	rs201002256	missense variant	-	NC_000020.11:g.32436701C>T	1000Genomes,ExAC
ASXL1	Q8IXJ9	p.Pro1330His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436701C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro1330Ser	rs1470476757	missense variant	-	NC_000020.11:g.32436700C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1331Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436704C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Pro1331Ser	COSM4856226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436703C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Pro1334Arg	rs1171765386	missense variant	-	NC_000020.11:g.32436713C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1334Leu	COSM3545262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436713C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser1335Asn	rs749211532	missense variant	-	NC_000020.11:g.32436716G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1339Glu	rs370510519	missense variant	-	NC_000020.11:g.32436728G>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1339Arg	rs768446568	missense variant	-	NC_000020.11:g.32436727G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1340Thr	rs375493039	missense variant	-	NC_000020.11:g.32436730C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1340Leu	rs1277513406	missense variant	-	NC_000020.11:g.32436731C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser1341Asn	rs772901230	missense variant	-	NC_000020.11:g.32436734G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1341Arg	rs771708439	missense variant	-	NC_000020.11:g.32436733A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn1343Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436741C>G	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1344Phe	COSM3545264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436743C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Met1345Leu	rs377173817	missense variant	-	NC_000020.11:g.32436745A>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1345Thr	rs1217736138	missense variant	-	NC_000020.11:g.32436746T>C	gnomAD
ASXL1	Q8IXJ9	p.Met1345Arg	rs1217736138	missense variant	-	NC_000020.11:g.32436746T>G	gnomAD
ASXL1	Q8IXJ9	p.Met1345Val	rs377173817	missense variant	-	NC_000020.11:g.32436745A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1347Ser	rs1282636106	missense variant	-	NC_000020.11:g.32436751G>A	TOPMed
ASXL1	Q8IXJ9	p.Gly1347Asp	rs776017976	missense variant	-	NC_000020.11:g.32436752G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1348Glu	rs1215926778	missense variant	-	NC_000020.11:g.32436755G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly1348Arg	rs1235681276	missense variant	-	NC_000020.11:g.32436754G>A	gnomAD
ASXL1	Q8IXJ9	p.Val1349Ile	rs1261675179	missense variant	-	NC_000020.11:g.32436757G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln1350Arg	rs764491073	missense variant	-	NC_000020.11:g.32436761A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln1350Ter	rs763386297	stop gained	-	NC_000020.11:g.32436760C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1350His	rs1254556412	missense variant	-	NC_000020.11:g.32436762G>T	gnomAD
ASXL1	Q8IXJ9	p.Thr1351Ala	rs957498028	missense variant	-	NC_000020.11:g.32436763A>G	gnomAD
ASXL1	Q8IXJ9	p.Thr1351Pro	rs957498028	missense variant	-	NC_000020.11:g.32436763A>C	gnomAD
ASXL1	Q8IXJ9	p.Pro1352Thr	rs1477232064	missense variant	-	NC_000020.11:g.32436766C>A	gnomAD
ASXL1	Q8IXJ9	p.Glu1354Ter	RCV000779754	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436772G>T	ClinVar
ASXL1	Q8IXJ9	p.Asp1355Tyr	rs897163423	missense variant	-	NC_000020.11:g.32436775G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1355Gly	rs751971997	missense variant	-	NC_000020.11:g.32436776A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1355His	rs897163423	missense variant	-	NC_000020.11:g.32436775G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1357Val	rs1221149032	missense variant	-	NC_000020.11:g.32436782C>T	TOPMed
ASXL1	Q8IXJ9	p.Ala1357Pro	rs1296966469	missense variant	-	NC_000020.11:g.32436781G>C	gnomAD
ASXL1	Q8IXJ9	p.Pro1358Arg	rs1342576866	missense variant	-	NC_000020.11:g.32436785C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1358Ala	rs554525759	missense variant	-	NC_000020.11:g.32436784C>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1360Leu	rs750648431	missense variant	-	NC_000020.11:g.32436791C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1360Ser	rs1318861266	missense variant	-	NC_000020.11:g.32436790C>T	gnomAD
ASXL1	Q8IXJ9	p.His1361Leu	rs1276856584	missense variant	-	NC_000020.11:g.32436794A>T	gnomAD
ASXL1	Q8IXJ9	p.His1361Arg	rs1276856584	missense variant	-	NC_000020.11:g.32436794A>G	gnomAD
ASXL1	Q8IXJ9	p.His1361Tyr	rs756177197	missense variant	-	NC_000020.11:g.32436793C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1362Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436796G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Val1364Leu	rs1348803364	missense variant	-	NC_000020.11:g.32436802G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1365Ser	rs1239527829	missense variant	-	NC_000020.11:g.32436805G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser1366Gly	rs1355933920	missense variant	-	NC_000020.11:g.32436808A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1366Thr	rs1218050808	missense variant	-	NC_000020.11:g.32436809G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1367Ile	rs147456014	missense variant	-	NC_000020.11:g.32436811G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1367Ile	RCV000317182	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436811G>A	ClinVar
ASXL1	Q8IXJ9	p.Lys1371Arg	rs747916498	missense variant	-	NC_000020.11:g.32436824A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1372Ser	rs201989261	missense variant	-	NC_000020.11:g.32436827C>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1372Ala	rs1157660270	missense variant	-	NC_000020.11:g.32436826A>G	gnomAD
ASXL1	Q8IXJ9	p.Phe1373Ser	rs777366376	missense variant	-	NC_000020.11:g.32436830T>C	ExAC
ASXL1	Q8IXJ9	p.Val1374Met	rs1174240695	missense variant	-	NC_000020.11:g.32436832G>A	TOPMed
ASXL1	Q8IXJ9	p.Gly1375Trp	rs191965193	missense variant	-	NC_000020.11:g.32436835G>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1376ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32436834G>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Gly1376Cys	rs1384877310	missense variant	-	NC_000020.11:g.32436838G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly1376Asp	rs759156029	missense variant	-	NC_000020.11:g.32436839G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1376Val	rs759156029	missense variant	-	NC_000020.11:g.32436839G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1377Leu	rs1371456909	missense variant	-	NC_000020.11:g.32436842C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1377Ter	RCV000622437	frameshift	Inborn genetic diseases	NC_000020.11:g.32436839dup	ClinVar
ASXL1	Q8IXJ9	p.Ala1380Gly	rs139319958	missense variant	-	NC_000020.11:g.32436851C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1382Thr	rs1195761913	missense variant	-	NC_000020.11:g.32436856G>A	TOPMed
ASXL1	Q8IXJ9	p.Glu1383Asp	rs1288855568	missense variant	-	NC_000020.11:g.32436861G>C	gnomAD
ASXL1	Q8IXJ9	p.Glu1383Lys	rs143770363	missense variant	-	NC_000020.11:g.32436859G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1384Asp	rs768021025	missense variant	-	NC_000020.11:g.32436862A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1385Lys	rs760817964	missense variant	-	NC_000020.11:g.32436866G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1385Gly	rs750607342	missense variant	-	NC_000020.11:g.32436865A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1389Glu	rs1457578532	missense variant	-	NC_000020.11:g.32436878G>A	gnomAD
ASXL1	Q8IXJ9	p.His1390Tyr	rs761239386	missense variant	-	NC_000020.11:g.32436880C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1391Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32436883A>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Ser1391Arg	rs778791558	missense variant	-	NC_000020.11:g.32436885T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1392Ala	rs368624471	missense variant	-	NC_000020.11:g.32436886C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1392Ser	rs368624471	missense variant	-	NC_000020.11:g.32436886C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1392Leu	COSM3545270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436887C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Glu1394Val	rs1456392521	missense variant	-	NC_000020.11:g.32436893A>T	gnomAD
ASXL1	Q8IXJ9	p.Leu1395Val	rs150004862	missense variant	-	NC_000020.11:g.32436895C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1396Leu	rs770488855	missense variant	-	NC_000020.11:g.32436898G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Asp	rs745344384	missense variant	-	NC_000020.11:g.32436902G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Ser	rs146464648	missense variant	-	NC_000020.11:g.32436901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Ala	rs745344384	missense variant	-	NC_000020.11:g.32436902G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Ser	RCV000353069	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436901G>A	ClinVar
ASXL1	Q8IXJ9	p.His1398Arg	rs1392041036	missense variant	-	NC_000020.11:g.32436905A>G	gnomAD
ASXL1	Q8IXJ9	p.His1398Asp	rs1381834100	missense variant	-	NC_000020.11:g.32436904C>G	TOPMed
ASXL1	Q8IXJ9	p.Leu1399Phe	rs1454543776	missense variant	-	NC_000020.11:g.32436909G>C	TOPMed
ASXL1	Q8IXJ9	p.Glu1400Ter	RCV000523176	nonsense	-	NC_000020.11:g.32436910G>T	ClinVar
ASXL1	Q8IXJ9	p.Glu1400Ter	rs1555912930	stop gained	-	NC_000020.11:g.32436910G>T	-
ASXL1	Q8IXJ9	p.Gly1401Arg	rs774955684	missense variant	-	NC_000020.11:g.32436913G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1402Val	rs1247685297	missense variant	-	NC_000020.11:g.32436916A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1402Leu	rs1247685297	missense variant	-	NC_000020.11:g.32436916A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1402Ile	rs772505693	missense variant	-	NC_000020.11:g.32436918G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1402Lys	rs762429584	missense variant	-	NC_000020.11:g.32436917T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1403Ser	rs148670852	missense variant	-	NC_000020.11:g.32436919C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1403Leu	rs1255779893	missense variant	-	NC_000020.11:g.32436920C>T	gnomAD
ASXL1	Q8IXJ9	p.Met1406Leu	rs1481373919	missense variant	-	NC_000020.11:g.32436928A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1408Val	rs1196015590	missense variant	-	NC_000020.11:g.32436934T>G	gnomAD
ASXL1	Q8IXJ9	p.Trp1411Ter	rs1189588116	stop gained	-	NC_000020.11:g.32436945G>A	gnomAD
ASXL1	Q8IXJ9	p.Lys1412Ter	rs1418437557	stop gained	-	NC_000020.11:g.32436946A>T	gnomAD
ASXL1	Q8IXJ9	p.Lys1412Glu	rs1418437557	missense variant	-	NC_000020.11:g.32436946A>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1414Thr	rs375106070	missense variant	-	NC_000020.11:g.32436952C>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1414Ser	rs375106070	missense variant	-	NC_000020.11:g.32436952C>T	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Ter	rs754129466	stop gained	-	NC_000020.11:g.32436955C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Gln	rs143328954	missense variant	-	NC_000020.11:g.32436956G>A	ESP,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Ter	RCV000623910	nonsense	Inborn genetic diseases	NC_000020.11:g.32436955C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg1415Ter	RCV000578978	nonsense	-	NC_000020.11:g.32436955C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg1415Gly	rs754129466	missense variant	-	NC_000020.11:g.32436955C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1416Gly	rs146759903	missense variant	-	NC_000020.11:g.32436959A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1418Trp	rs1302458782	missense variant	-	NC_000020.11:g.32436964G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly1418Glu	rs1400206227	missense variant	-	NC_000020.11:g.32436965G>A	gnomAD
ASXL1	Q8IXJ9	p.Lys1419Arg	rs1182239186	missense variant	-	NC_000020.11:g.32436968A>G	TOPMed
ASXL1	Q8IXJ9	p.Gly1420Ala	rs140396659	missense variant	-	NC_000020.11:g.32436971G>C	ESP
ASXL1	Q8IXJ9	p.Leu1421Phe	COSM6159423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32436973C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ser1422Asn	rs752574445	missense variant	-	NC_000020.11:g.32436977G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1424Leu	rs563685779	missense variant	-	NC_000020.11:g.32436983C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1425Gln	rs1280568526	missense variant	-	NC_000020.11:g.32436986T>A	gnomAD
ASXL1	Q8IXJ9	p.Leu1425Val	rs1268535205	missense variant	-	NC_000020.11:g.32436985C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1427Ser	rs764162507	missense variant	-	NC_000020.11:g.32436991C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1428Pro	rs150925693	missense variant	-	NC_000020.11:g.32436994T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1429Phe	rs1212344694	missense variant	-	NC_000020.11:g.32436998C>T	gnomAD
ASXL1	Q8IXJ9	p.Leu1430Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32437000C>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Leu1434Phe	rs755633691	missense variant	-	NC_000020.11:g.32437012C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1436Val	rs779722479	missense variant	-	NC_000020.11:g.32437018A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1436Met	rs748596785	missense variant	-	NC_000020.11:g.32437020C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile1436Phe	rs779722479	missense variant	-	NC_000020.11:g.32437018A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1438Ter	RCV000598608	nonsense	-	NC_000020.11:g.32437024C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln1438Ter	rs1555912974	stop gained	-	NC_000020.11:g.32437024C>T	-
ASXL1	Q8IXJ9	p.Gln1438His	COSM6159421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32437026G>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Tyr1441MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32437030T>-	NCI-TCGA
ASXL1	Q8IXJ9	p.Lys1443Arg	COSM1411100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32437040A>G	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Lys1446Glu	rs1313492286	missense variant	-	NC_000020.11:g.32437048A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1448Arg	rs772452614	missense variant	-	NC_000020.11:g.32437055A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1450Cys	rs1248006647	missense variant	-	NC_000020.11:g.32437060A>T	TOPMed
ASXL1	Q8IXJ9	p.Ser1453Thr	rs369323188	missense variant	-	NC_000020.11:g.32437070G>C	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1453Arg	rs1363144805	missense variant	-	NC_000020.11:g.32437071C>G	gnomAD
ASXL1	Q8IXJ9	p.Phe1454Cys	rs1260140152	missense variant	-	NC_000020.11:g.32437073T>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1455Tyr	rs1300193320	missense variant	-	NC_000020.11:g.32437075A>T	gnomAD
ASXL1	Q8IXJ9	p.Tyr1456His	rs1297604770	missense variant	-	NC_000020.11:g.32437078T>C	TOPMed
ASXL1	Q8IXJ9	p.Ser1459Gly	rs1488502891	missense variant	-	NC_000020.11:g.32437087A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1459Asn	rs776785621	missense variant	-	NC_000020.11:g.32437088G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1460Phe	rs759768826	missense variant	-	NC_000020.11:g.32437091C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1460Ala	rs1280491013	missense variant	-	NC_000020.11:g.32437090T>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1461Leu	rs765236014	missense variant	-	NC_000020.11:g.32437094C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1461Ala	rs1214409436	missense variant	-	NC_000020.11:g.32437093C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1461Ser	rs1214409436	missense variant	-	NC_000020.11:g.32437093C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1462Asn	rs1264766060	missense variant	-	NC_000020.11:g.32437097C>A	gnomAD
ASXL1	Q8IXJ9	p.Gly1466Asp	rs1037113561	missense variant	-	NC_000020.11:g.32437109G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1466Ser	rs763081912	missense variant	-	NC_000020.11:g.32437108G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1467Ile	COSM4097571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32437111C>A	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Ala1468Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32437114G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Ala1468Gly	rs763919568	missense variant	-	NC_000020.11:g.32437115C>G	ExAC
ASXL1	Q8IXJ9	p.Ser1470Asn	rs1426000456	missense variant	-	NC_000020.11:g.32437121G>A	TOPMed
ASXL1	Q8IXJ9	p.Val1471Met	rs779516123	missense variant	-	NC_000020.11:g.32437123G>A	-
ASXL1	Q8IXJ9	p.Val1472Met	rs756958250	missense variant	-	NC_000020.11:g.32437126G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1473Arg	rs767364451	missense variant	-	NC_000020.11:g.32437130A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1474Pro	RCV000424358	missense variant	-	NC_000020.11:g.32437133T>C	ClinVar
ASXL1	Q8IXJ9	p.Leu1474Pro	rs1057522762	missense variant	-	NC_000020.11:g.32437133T>C	-
ASXL1	Q8IXJ9	p.Asn1479Asp	rs1417907059	missense variant	-	NC_000020.11:g.32437147A>G	gnomAD
ASXL1	Q8IXJ9	p.Phe1480Cys	rs1479344658	missense variant	-	NC_000020.11:g.32437151T>G	TOPMed
ASXL1	Q8IXJ9	p.Gly1481Ser	rs755830073	missense variant	-	NC_000020.11:g.32437153G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1481Asp	rs1457731507	missense variant	-	NC_000020.11:g.32437154G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1482Val	rs779918659	missense variant	-	NC_000020.11:g.32437157C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1482Thr	rs1292214111	missense variant	-	NC_000020.11:g.32437156G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser1485Gly	rs1237260890	missense variant	-	NC_000020.11:g.32437165A>G	gnomAD
ASXL1	Q8IXJ9	p.Leu1488Ile	rs771144822	missense variant	-	NC_000020.11:g.32437174C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1489Thr	rs776986293	missense variant	-	NC_000020.11:g.32437177T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1489Pro	rs776986293	missense variant	-	NC_000020.11:g.32437177T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1489Cys	rs1205345035	missense variant	-	NC_000020.11:g.32437178C>G	TOPMed
ASXL1	Q8IXJ9	p.Leu1490Ser	rs1237757749	missense variant	-	NC_000020.11:g.32437181T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1490Met	rs1194548712	missense variant	-	NC_000020.11:g.32437180T>A	gnomAD
ASXL1	Q8IXJ9	p.Leu1490Phe	rs140896392	missense variant	-	NC_000020.11:g.32437182G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln1491Arg	rs985114051	missense variant	-	NC_000020.11:g.32437184A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1491Ter	COSM1025740	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32437183C>T	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Met1492Thr	rs1405352304	missense variant	-	NC_000020.11:g.32437187T>C	gnomAD
ASXL1	Q8IXJ9	p.Thr1498Met	RCV000262828	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32437205C>T	ClinVar
ASXL1	Q8IXJ9	p.Thr1498Met	rs150119795	missense variant	-	NC_000020.11:g.32437205C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1498Ala	rs762915264	missense variant	-	NC_000020.11:g.32437204A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1499Met	rs761827265	missense variant	-	NC_000020.11:g.32437207G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1499Ala	rs1410601864	missense variant	-	NC_000020.11:g.32437208T>C	TOPMed
ASXL1	Q8IXJ9	p.Glu1500Gln	rs1443938586	missense variant	-	NC_000020.11:g.32437210G>C	gnomAD
ASXL1	Q8IXJ9	p.Ser1503Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32437220C>T	NCI-TCGA
ASXL1	Q8IXJ9	p.Leu1504Phe	rs1301572138	missense variant	-	NC_000020.11:g.32437222C>T	TOPMed
ASXL1	Q8IXJ9	p.Ala1507Val	rs375101983	missense variant	-	NC_000020.11:g.32437232C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1509Asn	rs753585837	missense variant	-	NC_000020.11:g.32437238G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1513Leu	rs778498255	missense variant	-	NC_000020.11:g.32437249A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1515Thr	rs1479862599	missense variant	-	NC_000020.11:g.32437256T>C	TOPMed
ASXL1	Q8IXJ9	p.Met1515Val	rs142546929	missense variant	-	NC_000020.11:g.32437255A>G	ESP,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Cys1516Arg	rs1266285643	missense variant	-	NC_000020.11:g.32437258T>C	TOPMed
ASXL1	Q8IXJ9	p.Gln1517Pro	rs781704918	missense variant	-	NC_000020.11:g.32437262A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1517Arg	rs781704918	missense variant	-	NC_000020.11:g.32437262A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1520Ser	rs146743741	missense variant	-	NC_000020.11:g.32437270G>A	ESP,gnomAD
ASXL1	Q8IXJ9	p.Gly1520Arg	rs146743741	missense variant	-	NC_000020.11:g.32437270G>C	ESP,gnomAD
ASXL1	Q8IXJ9	p.Cys1523Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32437280G>T	NCI-TCGA
ASXL1	Q8IXJ9	p.His1524Tyr	rs149678774	missense variant	-	NC_000020.11:g.32437282C>T	1000Genomes
ASXL1	Q8IXJ9	p.Asp1525Asn	rs139397200	missense variant	-	NC_000020.11:g.32437285G>A	ESP,gnomAD
ASXL1	Q8IXJ9	p.Asp1526Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32437288G>A	NCI-TCGA
ASXL1	Q8IXJ9	p.Cys1527Ser	rs768565271	missense variant	-	NC_000020.11:g.32437292G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1529Val	rs774496581	missense variant	-	NC_000020.11:g.32437298G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1535Ile	RCV000317983	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32437315G>A	ClinVar
ASXL1	Q8IXJ9	p.Val1535Ile	rs886056603	missense variant	-	NC_000020.11:g.32437315G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1538Phe	rs1229055519	missense variant	-	NC_000020.11:g.32437324C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg1541Lys	rs1221897744	missense variant	-	NC_000020.11:g.32437334G>A	gnomAD
ASXL1	Q8IXJ9	p.Arg1541Thr	COSM478004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32437334G>C	NCI-TCGA Cosmic
ASXL1	Q8IXJ9	p.Asp3Asn	rs1362206875	missense variant	-	NC_000020.11:g.32358782G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln5Arg	rs1254502448	missense variant	-	NC_000020.11:g.32358789A>G	TOPMed
ASXL1	Q8IXJ9	p.Lys9Arg	rs886129274	missense variant	-	NC_000020.11:g.32358801A>G	TOPMed
ASXL1	Q8IXJ9	p.Lys9Glu	rs1292736851	missense variant	-	NC_000020.11:g.32358800A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala14Val	rs1365687375	missense variant	-	NC_000020.11:g.32358816C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu15Lys	rs1464069229	missense variant	-	NC_000020.11:g.32358818G>A	TOPMed
ASXL1	Q8IXJ9	p.Arg18Ser	rs1302023145	missense variant	-	NC_000020.11:g.32358827C>A	gnomAD
ASXL1	Q8IXJ9	p.Glu22Gly	rs775831641	missense variant	-	NC_000020.11:g.32366391A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser25Leu	rs1219695894	missense variant	-	NC_000020.11:g.32366400C>T	gnomAD
ASXL1	Q8IXJ9	p.Met29Leu	rs769223128	missense variant	-	NC_000020.11:g.32366411A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met29Val	rs769223128	missense variant	-	NC_000020.11:g.32366411A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr30Ala	rs1378562189	missense variant	-	NC_000020.11:g.32366414A>G	TOPMed
ASXL1	Q8IXJ9	p.Pro31Ser	rs1178102908	missense variant	-	NC_000020.11:g.32366417C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln33Glu	rs1192808397	missense variant	-	NC_000020.11:g.32366423C>G	TOPMed
ASXL1	Q8IXJ9	p.Val37Ile	rs1378944067	missense variant	-	NC_000020.11:g.32366435G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu39Ter	RCV000481449	frameshift	-	NC_000020.11:g.32366440dup	ClinVar
ASXL1	Q8IXJ9	p.Ala40Val	rs774677279	missense variant	-	NC_000020.11:g.32366445C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu45Gln	rs143594461	missense variant	-	NC_000020.11:g.32366459G>C	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met46Ile	rs772252001	missense variant	-	NC_000020.11:g.32366464G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met46Val	rs1404369258	missense variant	-	NC_000020.11:g.32366462A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly49Glu	rs1355901469	missense variant	-	NC_000020.11:g.32369017G>A	gnomAD
ASXL1	Q8IXJ9	p.Thr50Ala	rs763956931	missense variant	-	NC_000020.11:g.32369019A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser51Tyr	rs1276613425	missense variant	-	NC_000020.11:g.32369023C>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro52Ala	rs1190203873	missense variant	-	NC_000020.11:g.32369025C>G	gnomAD
ASXL1	Q8IXJ9	p.Ala54Ser	rs867857427	missense variant	-	NC_000020.11:g.32369031G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala54Thr	rs867857427	missense variant	-	NC_000020.11:g.32369031G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu56Val	rs1426548051	missense variant	-	NC_000020.11:g.32369037C>G	TOPMed
ASXL1	Q8IXJ9	p.Asn57Ser	rs147225073	missense variant	-	NC_000020.11:g.32369041A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu68Gly	rs1214819445	missense variant	-	NC_000020.11:g.32369074A>G	TOPMed
ASXL1	Q8IXJ9	p.Leu70Trp	rs1376615013	missense variant	-	NC_000020.11:g.32369080T>G	gnomAD
ASXL1	Q8IXJ9	p.Tyr72Cys	rs778374087	missense variant	-	NC_000020.11:g.32369086A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys73Ter	RCV000578382	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32369088A>T	ClinVar
ASXL1	Q8IXJ9	p.Lys73Ter	rs1555901138	stop gained	-	NC_000020.11:g.32369088A>T	-
ASXL1	Q8IXJ9	p.Arg77Ter	rs1375830737	stop gained	-	NC_000020.11:g.32369100C>T	gnomAD
ASXL1	Q8IXJ9	p.Ile78Val	rs747116564	missense variant	-	NC_000020.11:g.32369103A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser79Asn	rs1296130945	missense variant	-	NC_000020.11:g.32369107G>A	gnomAD
ASXL1	Q8IXJ9	p.Leu80Arg	rs1364292412	missense variant	-	NC_000020.11:g.32369110T>G	gnomAD
ASXL1	Q8IXJ9	p.Phe81Ser	rs543111241	missense variant	-	NC_000020.11:g.32369113T>C	1000Genomes,ExAC
ASXL1	Q8IXJ9	p.Thr82Ala	rs746065571	missense variant	-	NC_000020.11:g.32369115A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr82Met	rs769697612	missense variant	-	NC_000020.11:g.32369116C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu83Val	rs1237126623	missense variant	-	NC_000020.11:g.32369118C>G	gnomAD
ASXL1	Q8IXJ9	p.Lys84Gln	rs1285219133	missense variant	-	NC_000020.11:g.32369121A>C	TOPMed
ASXL1	Q8IXJ9	p.Lys84Arg	rs762682866	missense variant	-	NC_000020.11:g.32369122A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys85Arg	rs758884216	missense variant	-	NC_000020.11:g.32428129A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala87Ser	rs764542386	missense variant	-	NC_000020.11:g.32428134G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln89Lys	rs752178487	missense variant	-	NC_000020.11:g.32428140C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln89Arg	rs201743181	missense variant	-	NC_000020.11:g.32428141A>G	gnomAD
ASXL1	Q8IXJ9	p.Arg92Cys	rs781684559	missense variant	-	NC_000020.11:g.32428149C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg92His	rs745960978	missense variant	-	NC_000020.11:g.32428150G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr96Ala	rs756181482	missense variant	-	NC_000020.11:g.32428161A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val97Ala	rs1363691379	missense variant	-	NC_000020.11:g.32428165T>C	gnomAD
ASXL1	Q8IXJ9	p.Glu103Asp	rs780298865	missense variant	-	NC_000020.11:g.32428184G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr105Met	rs749495615	missense variant	-	NC_000020.11:g.32428189C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala106Thr	rs1460731601	missense variant	-	NC_000020.11:g.32428191G>A	TOPMed
ASXL1	Q8IXJ9	p.Val108Met	rs1375139737	missense variant	-	NC_000020.11:g.32428197G>A	TOPMed
ASXL1	Q8IXJ9	p.Ser110Asn	rs1209393404	missense variant	-	NC_000020.11:g.32428204G>A	gnomAD
ASXL1	Q8IXJ9	p.Cys111Tyr	rs987968539	missense variant	-	NC_000020.11:g.32428207G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly112Glu	rs1486567989	missense variant	-	NC_000020.11:g.32428210G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser113Phe	rs1188392212	missense variant	-	NC_000020.11:g.32428213C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu115Lys	rs1262669969	missense variant	-	NC_000020.11:g.32428218G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala116Thr	rs1474560744	missense variant	-	NC_000020.11:g.32428221G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser117Arg	rs1188313924	missense variant	-	NC_000020.11:g.32428224A>C	gnomAD
ASXL1	Q8IXJ9	p.Thr118Ser	rs778679424	missense variant	-	NC_000020.11:g.32428228C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val119Met	rs1414383610	missense variant	-	NC_000020.11:g.32428230G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val119Leu	rs1414383610	missense variant	-	NC_000020.11:g.32428230G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val119Gly	rs1174650406	missense variant	-	NC_000020.11:g.32428231T>G	gnomAD
ASXL1	Q8IXJ9	p.Asn123Ser	rs913768599	missense variant	-	NC_000020.11:g.32428243A>G	TOPMed
ASXL1	Q8IXJ9	p.Asp124Asn	rs771925643	missense variant	-	NC_000020.11:g.32428245G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp128His	rs1247216500	missense variant	-	NC_000020.11:g.32428333G>C	gnomAD
ASXL1	Q8IXJ9	p.Thr130Ile	rs1454605216	missense variant	-	NC_000020.11:g.32428340C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser132Leu	rs370054224	missense variant	-	NC_000020.11:g.32428346C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser132Pro	rs779057252	missense variant	-	NC_000020.11:g.32428345T>C	ExAC
ASXL1	Q8IXJ9	p.Ala134Thr	rs777619874	missense variant	-	NC_000020.11:g.32428351G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser135Ala	rs1308232911	missense variant	-	NC_000020.11:g.32428354T>G	gnomAD
ASXL1	Q8IXJ9	p.Ser135Cys	rs746954131	missense variant	-	NC_000020.11:g.32428355C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser135Pro	rs1308232911	missense variant	-	NC_000020.11:g.32428354T>C	gnomAD
ASXL1	Q8IXJ9	p.Ser137Phe	rs1285138418	missense variant	-	NC_000020.11:g.32428361C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser137Cys	rs1285138418	missense variant	-	NC_000020.11:g.32428361C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln141Glu	rs1451270158	missense variant	-	NC_000020.11:g.32428372C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser142Gly	rs776287321	missense variant	-	NC_000020.11:g.32428375A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser142Asn	rs1469281991	missense variant	-	NC_000020.11:g.32428376G>A	gnomAD
ASXL1	Q8IXJ9	p.Arg143Ter	rs1179121574	stop gained	-	NC_000020.11:g.32428378C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg143Leu	rs144437064	missense variant	-	NC_000020.11:g.32428379G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg143Gln	rs144437064	missense variant	-	NC_000020.11:g.32428379G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu145Phe	rs769594900	missense variant	-	NC_000020.11:g.32428384C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser146Phe	rs1159519046	missense variant	-	NC_000020.11:g.32428388C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser146Thr	rs775171131	missense variant	-	NC_000020.11:g.32428387T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser151Arg	RCV000171344	missense variant	-	NC_000020.11:g.32428404C>A	ClinVar
ASXL1	Q8IXJ9	p.Ser151Arg	rs750955319	missense variant	-	NC_000020.11:g.32428404C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser151Gly	rs767904889	missense variant	-	NC_000020.11:g.32428402A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr152Cys	rs1396093056	missense variant	-	NC_000020.11:g.32428406A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln157Arg	rs867244048	missense variant	-	NC_000020.11:g.32428421A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln157Leu	rs867244048	missense variant	-	NC_000020.11:g.32428421A>T	gnomAD
ASXL1	Q8IXJ9	p.Ala158Thr	rs1190521844	missense variant	-	NC_000020.11:g.32429338G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala158Val	rs1259109293	missense variant	-	NC_000020.11:g.32429339C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala158Pro	rs1190521844	missense variant	-	NC_000020.11:g.32429338G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn159Lys	rs1019881696	missense variant	-	NC_000020.11:g.32429343C>A	TOPMed
ASXL1	Q8IXJ9	p.Gln161Arg	rs759662137	missense variant	-	NC_000020.11:g.32429348A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys163Arg	rs765345307	missense variant	-	NC_000020.11:g.32429354A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly166Arg	rs752930699	missense variant	-	NC_000020.11:g.32429362G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly166Glu	rs758651476	missense variant	-	NC_000020.11:g.32429363G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val167Met	rs1374773723	missense variant	-	NC_000020.11:g.32429365G>A	gnomAD
ASXL1	Q8IXJ9	p.Met168Leu	rs200503314	missense variant	-	NC_000020.11:g.32429368A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met168Leu	RCV000341613	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32429368A>T	ClinVar
ASXL1	Q8IXJ9	p.Leu169Val	rs751394199	missense variant	-	NC_000020.11:g.32429371C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val173Ala	rs1293492156	missense variant	-	NC_000020.11:g.32429384T>C	gnomAD
ASXL1	Q8IXJ9	p.Val173Ile	rs781321640	missense variant	-	NC_000020.11:g.32429383G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly181Val	rs1263730148	missense variant	-	NC_000020.11:g.32429408G>T	TOPMed
ASXL1	Q8IXJ9	p.His183Tyr	rs755747902	missense variant	-	NC_000020.11:g.32429413C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val184Met	rs140731196	missense variant	-	NC_000020.11:g.32429416G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val184Leu	rs140731196	missense variant	-	NC_000020.11:g.32429416G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala187Val	rs1468736888	missense variant	-	NC_000020.11:g.32429426C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser191Leu	rs779803649	missense variant	-	NC_000020.11:g.32429907C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser191Trp	rs779803649	missense variant	-	NC_000020.11:g.32429907C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly192Asp	rs778674124	missense variant	-	NC_000020.11:g.32429910G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys193Tyr	rs1237338977	missense variant	-	NC_000020.11:g.32429913G>A	gnomAD
ASXL1	Q8IXJ9	p.His194Arg	rs771351026	missense variant	-	NC_000020.11:g.32429916A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His194Gln	rs116633791	missense variant	-	NC_000020.11:g.32429917C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His194Pro	rs771351026	missense variant	-	NC_000020.11:g.32429916A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp196Asn	rs1005458245	missense variant	-	NC_000020.11:g.32429921G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu198Lys	rs376793343	missense variant	-	NC_000020.11:g.32429927G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu198Gln	rs376793343	missense variant	-	NC_000020.11:g.32429927G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser199Arg	rs774775836	missense variant	-	NC_000020.11:g.32429932C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly200Ser	rs368981019	missense variant	-	NC_000020.11:g.32429933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly200Cys	rs368981019	missense variant	-	NC_000020.11:g.32429933G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser201Asn	rs1164268660	missense variant	-	NC_000020.11:g.32429937G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser201Gly	rs1454532242	missense variant	-	NC_000020.11:g.32429936A>G	gnomAD
ASXL1	Q8IXJ9	p.Pro202Leu	rs750262296	missense variant	-	NC_000020.11:g.32429940C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro202Thr	rs767787155	missense variant	-	NC_000020.11:g.32429939C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro202Ser	rs767787155	missense variant	-	NC_000020.11:g.32429939C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser206Asn	rs753695060	missense variant	-	NC_000020.11:g.32429952G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser207Gly	rs1318312862	missense variant	-	NC_000020.11:g.32429954A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly208Ser	rs754572422	missense variant	-	NC_000020.11:g.32429957G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly208Asp	rs778390869	missense variant	-	NC_000020.11:g.32429958G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala211Val	rs1265899855	missense variant	-	NC_000020.11:g.32429967C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg218Cys	rs564841799	missense variant	-	NC_000020.11:g.32429987C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg218Ser	rs564841799	missense variant	-	NC_000020.11:g.32429987C>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg218His	rs373418380	missense variant	-	NC_000020.11:g.32429988G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg218Pro	rs373418380	missense variant	-	NC_000020.11:g.32429988G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly219Val	rs587778064	missense variant	-	NC_000020.11:g.32429991G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly219Val	RCV000120114	missense variant	-	NC_000020.11:g.32429991G>T	ClinVar
ASXL1	Q8IXJ9	p.Glu222Lys	RCV000498145	missense variant	-	NC_000020.11:g.32429999G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu222Lys	RCV000503508	missense variant	Global developmental delay (DD)	NC_000020.11:g.32429999G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu222Lys	rs780662350	missense variant	-	NC_000020.11:g.32429999G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu222Gly	rs1364923384	missense variant	-	NC_000020.11:g.32430000A>G	TOPMed
ASXL1	Q8IXJ9	p.Thr224Ile	rs1165775102	missense variant	-	NC_000020.11:g.32430006C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln225Arg	rs1460951231	missense variant	-	NC_000020.11:g.32430009A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala228Val	rs587778063	missense variant	-	NC_000020.11:g.32430018C>T	-
ASXL1	Q8IXJ9	p.Ala228Val	RCV000120113	missense variant	-	NC_000020.11:g.32430018C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro229Ser	rs1300241784	missense variant	-	NC_000020.11:g.32430020C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro229Leu	rs576523117	missense variant	-	NC_000020.11:g.32430021C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro229Leu	RCV000288522	missense variant	-	NC_000020.11:g.32430021C>T	ClinVar
ASXL1	Q8IXJ9	p.Phe234Ser	rs1353196273	missense variant	-	NC_000020.11:g.32430036T>C	gnomAD
ASXL1	Q8IXJ9	p.Arg235Gln	rs1234538414	missense variant	-	NC_000020.11:g.32430039G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg235Trp	rs1234855061	missense variant	-	NC_000020.11:g.32430038C>T	gnomAD
ASXL1	Q8IXJ9	p.Lys236Gln	rs761932590	missense variant	-	NC_000020.11:g.32430041A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr239Ala	rs1306818500	missense variant	-	NC_000020.11:g.32430050A>G	gnomAD
ASXL1	Q8IXJ9	p.Met242Val	rs765190948	missense variant	-	NC_000020.11:g.32431326A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg244Ser	rs775377413	missense variant	-	NC_000020.11:g.32431332C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg244His	rs139716375	missense variant	-	NC_000020.11:g.32431333G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg244Cys	rs775377413	missense variant	-	NC_000020.11:g.32431332C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn245Ile	rs763582989	missense variant	-	NC_000020.11:g.32431336A>T	ExAC
ASXL1	Q8IXJ9	p.Gly247Trp	rs1179449889	missense variant	-	NC_000020.11:g.32431341G>T	TOPMed
ASXL1	Q8IXJ9	p.Ile250Val	rs1478523808	missense variant	-	NC_000020.11:g.32431350A>G	gnomAD
ASXL1	Q8IXJ9	p.Ile250Met	rs1158370661	missense variant	-	NC_000020.11:g.32431352A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly256Arg	rs1282158059	missense variant	-	NC_000020.11:g.32431368G>A	gnomAD
ASXL1	Q8IXJ9	p.Ile258Val	rs1398631312	missense variant	-	NC_000020.11:g.32431374A>G	gnomAD
ASXL1	Q8IXJ9	p.Arg265His	rs144349534	missense variant	-	NC_000020.11:g.32431396G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg265Cys	rs767144159	missense variant	-	NC_000020.11:g.32431395C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg265Gly	rs767144159	missense variant	-	NC_000020.11:g.32431395C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala266Asp	rs1469495344	missense variant	-	NC_000020.11:g.32431399C>A	TOPMed
ASXL1	Q8IXJ9	p.Ile268Phe	rs200053121	missense variant	-	NC_000020.11:g.32431404A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile268Val	rs200053121	missense variant	-	NC_000020.11:g.32431404A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile268Met	rs1436870251	missense variant	-	NC_000020.11:g.32431406C>G	gnomAD
ASXL1	Q8IXJ9	p.Asn269Thr	rs779609836	missense variant	-	NC_000020.11:g.32431408A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser270Pro	rs1286153885	missense variant	-	NC_000020.11:g.32431410T>C	TOPMed
ASXL1	Q8IXJ9	p.Arg271Pro	rs576447224	missense variant	-	NC_000020.11:g.32431414G>C	1000Genomes,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg271Gln	rs576447224	missense variant	-	NC_000020.11:g.32431414G>A	1000Genomes,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg271Trp	rs748649917	missense variant	-	NC_000020.11:g.32431413C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His274Leu	rs1274990710	missense variant	-	NC_000020.11:g.32431423A>T	gnomAD
ASXL1	Q8IXJ9	p.Phe280Leu	rs1268838941	missense variant	-	NC_000020.11:g.32431440T>C	gnomAD
ASXL1	Q8IXJ9	p.Phe280Leu	rs1334351668	missense variant	-	NC_000020.11:g.32431442C>G	gnomAD
ASXL1	Q8IXJ9	p.Gln283His	rs1275538082	missense variant	-	NC_000020.11:g.32431451G>C	gnomAD
ASXL1	Q8IXJ9	p.Glu290Val	rs948107833	missense variant	-	NC_000020.11:g.32431471A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu290Ala	rs948107833	missense variant	-	NC_000020.11:g.32431471A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val295Ala	rs750064853	missense variant	-	NC_000020.11:g.32431584T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr297Met	rs373599045	missense variant	-	NC_000020.11:g.32431590C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr297Met	RCV000301957	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32431590C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg302His	rs769717271	missense variant	-	NC_000020.11:g.32431605G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg302Cys	rs1167333195	missense variant	-	NC_000020.11:g.32431604C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg302Ser	rs1167333195	missense variant	-	NC_000020.11:g.32431604C>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu303Pro	rs1431344191	missense variant	-	NC_000020.11:g.32431608T>C	gnomAD
ASXL1	Q8IXJ9	p.Ser304Cys	rs146637943	missense variant	-	NC_000020.11:g.32431610A>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser305Ile	rs1413217828	missense variant	-	NC_000020.11:g.32431614G>T	gnomAD
ASXL1	Q8IXJ9	p.His315Leu	rs781319292	missense variant	-	NC_000020.11:g.32431644A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala316Val	rs1485128289	missense variant	-	NC_000020.11:g.32431647C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala317Ser	rs1257658232	missense variant	-	NC_000020.11:g.32431649G>T	gnomAD
ASXL1	Q8IXJ9	p.Ala317Val	rs1290952848	missense variant	-	NC_000020.11:g.32431650C>T	TOPMed
ASXL1	Q8IXJ9	p.Gln318Ter	rs1174269593	stop gained	-	NC_000020.11:g.32431652C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg321Gln	rs769646696	missense variant	-	NC_000020.11:g.32431662G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu328Gln	rs1330515767	missense variant	-	NC_000020.11:g.32432882G>C	gnomAD
ASXL1	Q8IXJ9	p.His331Asp	RCV000300567	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32432891C>G	ClinVar
ASXL1	Q8IXJ9	p.His331Arg	rs1208821068	missense variant	-	NC_000020.11:g.32432892A>G	gnomAD
ASXL1	Q8IXJ9	p.His331Gln	rs527956473	missense variant	-	NC_000020.11:g.32432893T>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His331Asp	rs886056597	missense variant	-	NC_000020.11:g.32432891C>G	-
ASXL1	Q8IXJ9	p.Met333Ile	rs587778058	missense variant	-	NC_000020.11:g.32432899G>T	-
ASXL1	Q8IXJ9	p.Met333Ile	RCV000120088	missense variant	-	NC_000020.11:g.32432899G>T	ClinVar
ASXL1	Q8IXJ9	p.Ile337Lys	rs1379240545	missense variant	-	NC_000020.11:g.32432910T>A	TOPMed
ASXL1	Q8IXJ9	p.Arg338Gln	rs763319023	missense variant	-	NC_000020.11:g.32432913G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu340Lys	rs1180014276	missense variant	-	NC_000020.11:g.32432918G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu340Asp	rs1414475265	missense variant	-	NC_000020.11:g.32432920A>C	gnomAD
ASXL1	Q8IXJ9	p.Glu344Gly	rs1460118565	missense variant	-	NC_000020.11:g.32432931A>G	TOPMed
ASXL1	Q8IXJ9	p.Glu348Gln	rs368107684	missense variant	-	NC_000020.11:g.32432942G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu348Lys	rs368107684	missense variant	-	NC_000020.11:g.32432942G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln349Arg	rs1164335635	missense variant	-	NC_000020.11:g.32432946A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys353Gln	rs756364371	missense variant	-	NC_000020.11:g.32432957A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Tyr358Cys	rs1415471931	missense variant	-	NC_000020.11:g.32432973A>G	TOPMed
ASXL1	Q8IXJ9	p.Tyr359Cys	rs754808303	missense variant	-	NC_000020.11:g.32432976A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly364Asp	rs756902273	missense variant	-	NC_000020.11:g.32433289G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu369Gly	rs1382217601	missense variant	-	NC_000020.11:g.32433304A>G	TOPMed
ASXL1	Q8IXJ9	p.Ser370Thr	rs557983754	missense variant	-	NC_000020.11:g.32433306T>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln372Ter	rs199846284	stop gained	-	NC_000020.11:g.32433312C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln372Lys	rs199846284	missense variant	-	NC_000020.11:g.32433312C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln372Glu	rs199846284	missense variant	-	NC_000020.11:g.32433312C>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln373Ter	rs1427299519	stop gained	-	NC_000020.11:g.32433315C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln373Ter	RCV000622427	nonsense	Inborn genetic diseases	NC_000020.11:g.32433315C>T	ClinVar
ASXL1	Q8IXJ9	p.Val375Met	rs748644253	missense variant	-	NC_000020.11:g.32433321G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val375Leu	rs748644253	missense variant	-	NC_000020.11:g.32433321G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln377Ter	rs1386196069	stop gained	-	NC_000020.11:g.32433327C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu379Ala	rs1434163063	missense variant	-	NC_000020.11:g.32433334A>C	gnomAD
ASXL1	Q8IXJ9	p.Lys383Arg	rs1203866783	missense variant	-	NC_000020.11:g.32433346A>G	TOPMed
ASXL1	Q8IXJ9	p.Gly385Ser	rs963466544	missense variant	-	NC_000020.11:g.32433351G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu386Ter	rs772584710	stop gained	-	NC_000020.11:g.32433355T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu386Phe	rs773501932	missense variant	-	NC_000020.11:g.32433356G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys387Phe	rs1302955173	missense variant	-	NC_000020.11:g.32433358G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys387Tyr	rs1302955173	missense variant	-	NC_000020.11:g.32433358G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val388Leu	rs145699348	missense variant	-	NC_000020.11:g.32433360G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val388Ter	RCV000592184	frameshift	-	NC_000020.11:g.32433356_32433357GT[2]	ClinVar
ASXL1	Q8IXJ9	p.Val388Ile	rs145699348	missense variant	-	NC_000020.11:g.32433360G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val388Ala	rs771344849	missense variant	-	NC_000020.11:g.32433361T>C	ExAC
ASXL1	Q8IXJ9	p.Val388Ile	RCV000353113	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433360G>A	ClinVar
ASXL1	Q8IXJ9	p.Pro389Arg	rs776891768	missense variant	-	NC_000020.11:g.32433364C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu391Asp	rs1305163905	missense variant	-	NC_000020.11:g.32433371A>T	TOPMed
ASXL1	Q8IXJ9	p.Arg394Cys	rs534065676	missense variant	-	NC_000020.11:g.32433378C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg394His	rs201899433	missense variant	-	NC_000020.11:g.32433379G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln396Arg	rs762925891	missense variant	-	NC_000020.11:g.32433385A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg397Gly	rs369058266	missense variant	-	NC_000020.11:g.32433387C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg397His	rs757102293	missense variant	-	NC_000020.11:g.32433388G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg397Cys	rs369058266	missense variant	-	NC_000020.11:g.32433387C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly398Asp	rs781178976	missense variant	-	NC_000020.11:g.32433391G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg402Gln	rs755749479	missense variant	-	NC_000020.11:g.32433403G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln403Leu	rs1454065495	missense variant	-	NC_000020.11:g.32433406A>T	gnomAD
ASXL1	Q8IXJ9	p.Arg404Gln	rs748755685	missense variant	-	NC_000020.11:g.32433409G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000627196	nonsense	-	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000414833	nonsense	Hypertrichosis	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000415151	nonsense	Developmental delay	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg404Ter	rs373145711	stop gained	-	NC_000020.11:g.32433408C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000023977	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Asp405Gly	rs768224767	missense variant	-	NC_000020.11:g.32433412A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly406Val	rs778241944	missense variant	-	NC_000020.11:g.32433415G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg411His	rs143719307	missense variant	-	NC_000020.11:g.32433430G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg411Cys	rs148964601	missense variant	-	NC_000020.11:g.32433429C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser412Pro	rs776892604	missense variant	-	NC_000020.11:g.32433432T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser412Phe	rs201016007	missense variant	-	NC_000020.11:g.32433433C>T	-
ASXL1	Q8IXJ9	p.Arg413Trp	rs1272820357	missense variant	-	NC_000020.11:g.32433435C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg413Leu	rs1466780451	missense variant	-	NC_000020.11:g.32433436G>T	TOPMed
ASXL1	Q8IXJ9	p.Arg413Gln	rs1466780451	missense variant	-	NC_000020.11:g.32433436G>A	TOPMed
ASXL1	Q8IXJ9	p.Arg417Gly	rs375215583	missense variant	-	NC_000020.11:g.32433447C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg417Ter	RCV000326340	nonsense	-	NC_000020.11:g.32433447C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg417Ter	rs375215583	stop gained	-	NC_000020.11:g.32433447C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg417Gln	rs769921728	missense variant	-	NC_000020.11:g.32433448G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg417Ter	RCV000779346	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433447C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg422Gly	rs1210656444	missense variant	-	NC_000020.11:g.32433462A>G	gnomAD
ASXL1	Q8IXJ9	p.Asn423Ser	RCV000260381	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433466A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn423Ser	rs886056598	missense variant	-	NC_000020.11:g.32433466A>G	-
ASXL1	Q8IXJ9	p.Gln428Ter	RCV000297241	frameshift	-	NC_000020.11:g.32433479dup	ClinVar
ASXL1	Q8IXJ9	p.Gln428Ter	RCV000735213	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32433481_32433482del	ClinVar
ASXL1	Q8IXJ9	p.Gln428Ter	RCV000325688	nonsense	-	NC_000020.11:g.32433480C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln428Ter	rs886041975	stop gained	-	NC_000020.11:g.32433480C>T	TOPMed
ASXL1	Q8IXJ9	p.Glu431Gly	rs1248768238	missense variant	-	NC_000020.11:g.32433490A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln432Ter	rs764325672	stop gained	-	NC_000020.11:g.32433492C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala433Pro	rs1464725319	missense variant	-	NC_000020.11:g.32433495G>C	gnomAD
ASXL1	Q8IXJ9	p.Gly434Glu	rs1191343540	missense variant	-	NC_000020.11:g.32433499G>A	gnomAD
ASXL1	Q8IXJ9	p.Val435Phe	rs1249356614	missense variant	-	NC_000020.11:g.32433501G>T	TOPMed
ASXL1	Q8IXJ9	p.Ala436Ser	rs1410759251	missense variant	-	NC_000020.11:g.32433504G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp438Tyr	rs1471354306	missense variant	-	NC_000020.11:g.32433510G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp438Glu	rs1160704020	missense variant	-	NC_000020.11:g.32433512T>A	gnomAD
ASXL1	Q8IXJ9	p.Lys440Glu	rs1389330371	missense variant	-	NC_000020.11:g.32433516A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser441Phe	rs751518063	missense variant	-	NC_000020.11:g.32433520C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala443Asp	rs1351336989	missense variant	-	NC_000020.11:g.32433526C>A	gnomAD
ASXL1	Q8IXJ9	p.Ser444Ter	rs373126831	stop gained	-	NC_000020.11:g.32433529C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser444Leu	rs373126831	missense variant	-	NC_000020.11:g.32433529C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser444Pro	rs750204108	missense variant	-	NC_000020.11:g.32433528T>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser444Ter	rs373126831	stop gained	-	NC_000020.11:g.32433529C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp445Gly	rs201151457	missense variant	-	NC_000020.11:g.32433532A>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val446Ile	RCV000313477	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433534G>A	ClinVar
ASXL1	Q8IXJ9	p.Val446Ile	rs376229687	missense variant	-	NC_000020.11:g.32433534G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro447Thr	rs1334789337	missense variant	-	NC_000020.11:g.32433537C>A	gnomAD
ASXL1	Q8IXJ9	p.Leu448Pro	RCV000370446	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433541T>C	ClinVar
ASXL1	Q8IXJ9	p.Leu448Pro	rs886056599	missense variant	-	NC_000020.11:g.32433541T>C	TOPMed
ASXL1	Q8IXJ9	p.Tyr449Cys	rs778435999	missense variant	-	NC_000020.11:g.32433544A>G	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Gly452Arg	rs1052747905	missense variant	-	NC_000020.11:g.32433552G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala454Val	rs1227044536	missense variant	-	NC_000020.11:g.32433559C>T	gnomAD
ASXL1	Q8IXJ9	p.Lys455Ter	rs1292471399	stop gained	-	NC_000020.11:g.32433561A>T	gnomAD
ASXL1	Q8IXJ9	p.Thr456Ile	rs747475412	missense variant	-	NC_000020.11:g.32433565C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp457Asn	rs912915179	missense variant	-	NC_000020.11:g.32433567G>A	TOPMed
ASXL1	Q8IXJ9	p.Pro458Arg	rs1481847597	missense variant	-	NC_000020.11:g.32433571C>G	gnomAD
ASXL1	Q8IXJ9	p.Gly460Glu	rs1183748271	missense variant	-	NC_000020.11:g.32433577G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser462Gly	rs1472430198	missense variant	-	NC_000020.11:g.32433582A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser462Asn	rs1364461359	missense variant	-	NC_000020.11:g.32433583G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser463Thr	rs373486603	missense variant	-	NC_000020.11:g.32433586G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser463Asn	rs373486603	missense variant	-	NC_000020.11:g.32433586G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser463Gly	rs1161459110	missense variant	-	NC_000020.11:g.32433585A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser463Thr	RCV000273509	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433586G>C	ClinVar
ASXL1	Q8IXJ9	p.Ser463Asn	RCV000120089	missense variant	-	NC_000020.11:g.32433586G>A	ClinVar
ASXL1	Q8IXJ9	p.Pro464Leu	rs1405789384	missense variant	-	NC_000020.11:g.32433589C>T	gnomAD
ASXL1	Q8IXJ9	p.His465Arg	rs749568474	missense variant	-	NC_000020.11:g.32433592A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu466Arg	rs768821760	missense variant	-	NC_000020.11:g.32433595T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr469Ile	rs774600044	missense variant	-	NC_000020.11:g.32433604C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser470Ter	RCV000478898	frameshift	-	NC_000020.11:g.32433604dup	ClinVar
ASXL1	Q8IXJ9	p.Ser470Thr	rs1357638839	missense variant	-	NC_000020.11:g.32433606T>A	gnomAD
ASXL1	Q8IXJ9	p.Ala472Val	rs760377286	missense variant	-	NC_000020.11:g.32433613C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala473Thr	rs1358407610	missense variant	-	NC_000020.11:g.32433615G>A	TOPMed
ASXL1	Q8IXJ9	p.Pro474Ser	rs766248526	missense variant	-	NC_000020.11:g.32433618C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro474Leu	rs1252085188	missense variant	-	NC_000020.11:g.32433619C>T	gnomAD
ASXL1	Q8IXJ9	p.Asp475Asn	rs754658635	missense variant	-	NC_000020.11:g.32433621G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu477Gln	rs141346625	missense variant	-	NC_000020.11:g.32433627G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu477Gln	RCV000120090	missense variant	-	NC_000020.11:g.32433627G>C	ClinVar
ASXL1	Q8IXJ9	p.Glu477Ter	rs141346625	stop gained	-	NC_000020.11:g.32433627G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly478Val	rs1327084977	missense variant	-	NC_000020.11:g.32433631G>T	TOPMed
ASXL1	Q8IXJ9	p.Gly478Ter	RCV000657555	frameshift	-	NC_000020.11:g.32433631del	ClinVar
ASXL1	Q8IXJ9	p.Glu480Lys	rs545224250	missense variant	-	NC_000020.11:g.32433636G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu480Ter	rs545224250	stop gained	-	NC_000020.11:g.32433636G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val483Ter	RCV000623422	frameshift	Inborn genetic diseases	NC_000020.11:g.32433644dup	ClinVar
ASXL1	Q8IXJ9	p.Glu484Gln	rs1388025911	missense variant	-	NC_000020.11:g.32433648G>C	gnomAD
ASXL1	Q8IXJ9	p.Ser485Cys	rs1431862341	missense variant	-	NC_000020.11:g.32433652C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser488Phe	rs781545960	missense variant	-	NC_000020.11:g.32433661C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg489Gln	rs780602186	missense variant	-	NC_000020.11:g.32433664G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg489Gly	rs142172134	missense variant	-	NC_000020.11:g.32433663C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg489Trp	rs142172134	missense variant	-	NC_000020.11:g.32433663C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln491Ter	rs1335820343	stop gained	-	NC_000020.11:g.32433669C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala492Ser	rs145913172	missense variant	-	NC_000020.11:g.32433672G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala492Asp	rs141314105	missense variant	-	NC_000020.11:g.32433673C>A	gnomAD
ASXL1	Q8IXJ9	p.Ala492Pro	rs145913172	missense variant	-	NC_000020.11:g.32433672G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala492Val	rs141314105	missense variant	-	NC_000020.11:g.32433673C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu493Ter	rs1434942289	stop gained	-	NC_000020.11:g.32433675G>T	gnomAD
ASXL1	Q8IXJ9	p.Asn496Lys	RCV000330940	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433686C>G	ClinVar
ASXL1	Q8IXJ9	p.Asn496Lys	rs769017790	missense variant	-	NC_000020.11:g.32433686C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala498Ter	RCV000723150	frameshift	-	NC_000020.11:g.32433690dup	ClinVar
ASXL1	Q8IXJ9	p.Arg499Cys	rs376089258	missense variant	-	NC_000020.11:g.32433693C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg499His	rs549287573	missense variant	-	NC_000020.11:g.32433694G>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala502Val	rs772255605	missense variant	-	NC_000020.11:g.32433703C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala502Ser	rs1280067131	missense variant	-	NC_000020.11:g.32433702G>T	gnomAD
ASXL1	Q8IXJ9	p.Ser503Cys	rs773003506	missense variant	-	NC_000020.11:g.32433706C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro504Arg	rs1246107812	missense variant	-	NC_000020.11:g.32433709C>G	gnomAD
ASXL1	Q8IXJ9	p.Asp505Val	rs528890865	missense variant	-	NC_000020.11:g.32433712A>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp505Gly	rs528890865	missense variant	-	NC_000020.11:g.32433712A>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp505His	rs561374294	missense variant	-	NC_000020.11:g.32433711G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp505Asn	rs561374294	missense variant	-	NC_000020.11:g.32433711G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg506Thr	rs1464693264	missense variant	-	NC_000020.11:g.32433715G>C	gnomAD
ASXL1	Q8IXJ9	p.Arg506Gly	rs1307231164	missense variant	-	NC_000020.11:g.32433714A>G	TOPMed
ASXL1	Q8IXJ9	p.Arg506Ile	rs1464693264	missense variant	-	NC_000020.11:g.32433715G>T	gnomAD
ASXL1	Q8IXJ9	p.Ile507Met	rs764873181	missense variant	-	NC_000020.11:g.32433719T>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile507Asn	rs138971201	missense variant	-	NC_000020.11:g.32433718T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro508Thr	rs1456774256	missense variant	-	NC_000020.11:g.32433720C>A	gnomAD
ASXL1	Q8IXJ9	p.Ser509Thr	rs1325586245	missense variant	-	NC_000020.11:g.32433724G>C	TOPMed
ASXL1	Q8IXJ9	p.Ser509Arg	rs1319205628	missense variant	-	NC_000020.11:g.32433725C>A	gnomAD
ASXL1	Q8IXJ9	p.Leu510Pro	rs752413007	missense variant	-	NC_000020.11:g.32433727T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln512Ter	rs757832294	stop gained	-	NC_000020.11:g.32433732C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu513Ter	rs763708711	stop gained	-	NC_000020.11:g.32433735G>T	ExAC
ASXL1	Q8IXJ9	p.Glu513Asp	rs750860968	missense variant	-	NC_000020.11:g.32433737A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val515Met	rs370749247	missense variant	-	NC_000020.11:g.32433741G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val515Ter	RCV000622658	frameshift	Inborn genetic diseases	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
ASXL1	Q8IXJ9	p.Val515Ter	RCV000778133	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
ASXL1	Q8IXJ9	p.Val515Ter	RCV000366685	frameshift	-	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
ASXL1	Q8IXJ9	p.Asp516Tyr	rs754265104	missense variant	-	NC_000020.11:g.32433744G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln517Ter	rs755464186	stop gained	-	NC_000020.11:g.32433747C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu518Val	rs779269318	missense variant	-	NC_000020.11:g.32433751A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu518Lys	rs1209779368	missense variant	-	NC_000020.11:g.32433750G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln522Ter	rs772017757	stop gained	-	NC_000020.11:g.32433762C>T	ExAC
ASXL1	Q8IXJ9	p.Ser526Thr	rs1266341581	missense variant	-	NC_000020.11:g.32433774T>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser526Phe	rs1431666756	missense variant	-	NC_000020.11:g.32433775C>T	gnomAD
ASXL1	Q8IXJ9	p.Phe527Leu	rs777942161	missense variant	-	NC_000020.11:g.32433779T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu528Ter	rs746873290	stop gained	-	NC_000020.11:g.32433780G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu528Gln	rs746873290	missense variant	-	NC_000020.11:g.32433780G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln529Ter	rs770914619	stop gained	-	NC_000020.11:g.32433783C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala530Val	rs988568801	missense variant	-	NC_000020.11:g.32433787C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser534Cys	rs1458183314	missense variant	-	NC_000020.11:g.32433799C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro536Leu	rs1247116484	missense variant	-	NC_000020.11:g.32433805C>T	TOPMed
ASXL1	Q8IXJ9	p.Glu537Ter	rs369425922	stop gained	-	NC_000020.11:g.32433807G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu537Lys	rs369425922	missense variant	-	NC_000020.11:g.32433807G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro540Ser	rs1023881021	missense variant	-	NC_000020.11:g.32433816C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro540Ala	rs1023881021	missense variant	-	NC_000020.11:g.32433816C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu542Arg	rs762705745	missense variant	-	NC_000020.11:g.32433823T>G	ExAC
ASXL1	Q8IXJ9	p.Asp544Glu	rs761024882	missense variant	-	NC_000020.11:g.32433830T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp544Gly	rs751100079	missense variant	-	NC_000020.11:g.32433829A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg545Cys	rs137920574	missense variant	-	NC_000020.11:g.32433831C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg545Ser	rs137920574	missense variant	-	NC_000020.11:g.32433831C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg545His	rs149449801	missense variant	-	NC_000020.11:g.32433832G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln546Ter	rs1264792645	stop gained	-	NC_000020.11:g.32433834C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg549Cys	rs1299423705	missense variant	-	NC_000020.11:g.32433843C>T	TOPMed
ASXL1	Q8IXJ9	p.Thr551Ser	rs755376183	missense variant	-	NC_000020.11:g.32433849A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile552Thr	rs1180135415	missense variant	-	NC_000020.11:g.32433853T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile552Val	rs143952412	missense variant	-	NC_000020.11:g.32433852A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu553Ter	RCV000778628	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433855G>T	ClinVar
ASXL1	Q8IXJ9	p.Ser554Asn	rs752824843	missense variant	-	NC_000020.11:g.32433859G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser554Thr	rs752824843	missense variant	-	NC_000020.11:g.32433859G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val555Ile	rs1425563487	missense variant	-	NC_000020.11:g.32433861G>A	TOPMed
ASXL1	Q8IXJ9	p.His556Tyr	rs1164774013	missense variant	-	NC_000020.11:g.32433864C>T	gnomAD
ASXL1	Q8IXJ9	p.Thr557Ala	rs1185741428	missense variant	-	NC_000020.11:g.32433867A>G	TOPMed
ASXL1	Q8IXJ9	p.Thr557Ser	rs1474354822	missense variant	-	NC_000020.11:g.32433868C>G	TOPMed
ASXL1	Q8IXJ9	p.Glu558Lys	rs899345535	missense variant	-	NC_000020.11:g.32433870G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu558Ter	rs899345535	stop gained	-	NC_000020.11:g.32433870G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro562Ser	rs771064807	missense variant	-	NC_000020.11:g.32433882C>T	ExAC
ASXL1	Q8IXJ9	p.Thr563Ile	rs1279770197	missense variant	-	NC_000020.11:g.32433886C>T	TOPMed
ASXL1	Q8IXJ9	p.Thr563Ala	rs769192383	missense variant	-	NC_000020.11:g.32433885A>G	gnomAD
ASXL1	Q8IXJ9	p.Lys564Glu	rs994849358	missense variant	-	NC_000020.11:g.32433888A>G	TOPMed
ASXL1	Q8IXJ9	p.Glu566Asp	rs1279708959	missense variant	-	NC_000020.11:g.32433896G>C	TOPMed
ASXL1	Q8IXJ9	p.Glu566Val	rs139843035	missense variant	-	NC_000020.11:g.32433895A>T	ESP
ASXL1	Q8IXJ9	p.Pro567Ser	rs1047797896	missense variant	-	NC_000020.11:g.32433897C>T	TOPMed
ASXL1	Q8IXJ9	p.Lys568Arg	rs1338995781	missense variant	-	NC_000020.11:g.32433901A>G	TOPMed
ASXL1	Q8IXJ9	p.Pro570Leu	rs539520990	missense variant	-	NC_000020.11:g.32433907C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg573Trp	rs373685182	missense variant	-	NC_000020.11:g.32433915C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg573Gln	rs144440597	missense variant	-	NC_000020.11:g.32433916G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln575Ter	rs747847938	stop gained	-	NC_000020.11:g.32434435C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln575His	rs771671358	missense variant	-	NC_000020.11:g.32434437A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser577Pro	rs772873915	missense variant	-	NC_000020.11:g.32434441T>C	ExAC
ASXL1	Q8IXJ9	p.Arg578His	rs921565741	missense variant	-	NC_000020.11:g.32434445G>A	TOPMed
ASXL1	Q8IXJ9	p.Ile579Val	rs368930454	missense variant	-	NC_000020.11:g.32434447A>G	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro581Leu	rs775928560	missense variant	-	NC_000020.11:g.32434454C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro581Arg	rs775928560	missense variant	-	NC_000020.11:g.32434454C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro582Ser	rs1488971611	missense variant	-	NC_000020.11:g.32434456C>T	TOPMed
ASXL1	Q8IXJ9	p.Trp583Ter	rs1174760074	stop gained	-	NC_000020.11:g.32434461G>A	gnomAD
ASXL1	Q8IXJ9	p.Trp583Ter	rs763361634	stop gained	-	NC_000020.11:g.32434460G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly587Cys	rs764414702	missense variant	-	NC_000020.11:g.32434471G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln588Ter	rs1486082302	stop gained	-	NC_000020.11:g.32434474C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln588Ter	RCV000760590	nonsense	-	NC_000020.11:g.32434474C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro589Leu	rs751772819	missense variant	-	NC_000020.11:g.32434478C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Tyr591Ter	rs371369583	stop gained	-	NC_000020.11:g.32434485C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr591Ter	RCV000519960	nonsense	-	NC_000020.11:g.32434485C>G	ClinVar
ASXL1	Q8IXJ9	p.Tyr591Ter	rs762036456	stop gained	-	NC_000020.11:g.32434484dup	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr591Ter	rs371369583	stop gained	-	NC_000020.11:g.32434485C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln592Arg	rs750512886	missense variant	-	NC_000020.11:g.32434487A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln592Ter	rs951716574	stop gained	-	NC_000020.11:g.32434486C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile593Val	rs1299465576	missense variant	-	NC_000020.11:g.32434489A>G	gnomAD
ASXL1	Q8IXJ9	p.Cys594Arg	rs1204364792	missense variant	-	NC_000020.11:g.32434492T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys594Ter	rs755974145	stop gained	-	NC_000020.11:g.32434494C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg596Trp	rs780033634	missense variant	-	NC_000020.11:g.32434498C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile597Leu	rs984648436	missense variant	-	NC_000020.11:g.32434501A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr600Ile	rs754774849	missense variant	-	NC_000020.11:g.32434511C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr601Ala	rs1298915538	missense variant	-	NC_000020.11:g.32434513A>G	TOPMed
ASXL1	Q8IXJ9	p.Thr601Met	rs778606251	missense variant	-	NC_000020.11:g.32434514C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys605Phe	rs772781848	missense variant	-	NC_000020.11:g.32434526G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys605Tyr	rs772781848	missense variant	-	NC_000020.11:g.32434526G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg606Gln	rs587778061	missense variant	-	NC_000020.11:g.32434529G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg606Trp	rs746515791	missense variant	-	NC_000020.11:g.32434528C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg606Gln	RCV000120104	missense variant	-	NC_000020.11:g.32434529G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly607Cys	rs1369413951	missense variant	-	NC_000020.11:g.32434531G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly607Asp	rs1479104382	missense variant	-	NC_000020.11:g.32434532G>A	TOPMed
ASXL1	Q8IXJ9	p.Trp608Cys	rs1434857838	missense variant	-	NC_000020.11:g.32434536G>C	gnomAD
ASXL1	Q8IXJ9	p.Thr609Ile	rs1292056366	missense variant	-	NC_000020.11:g.32434538C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly610Asp	rs940521669	missense variant	-	NC_000020.11:g.32434541G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala611Ser	rs372418554	missense variant	-	NC_000020.11:g.32434543G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala611Thr	rs372418554	missense variant	-	NC_000020.11:g.32434543G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg612Ser	rs1224237404	missense variant	-	NC_000020.11:g.32434548G>T	gnomAD
ASXL1	Q8IXJ9	p.Thr613Ile	rs1287753337	missense variant	-	NC_000020.11:g.32434550C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala615Thr	rs1230703370	missense variant	-	NC_000020.11:g.32434555G>A	gnomAD
ASXL1	Q8IXJ9	p.Ile617Val	rs1285568939	missense variant	-	NC_000020.11:g.32434561A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile617Phe	rs1285568939	missense variant	-	NC_000020.11:g.32434561A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.IleLys617IleLysTerUnk	rs1555911840	stop gained	-	NC_000020.11:g.32434563_32434566dup	TOPMed
ASXL1	Q8IXJ9	p.Lys618Glu	rs774719088	missense variant	-	NC_000020.11:g.32434564A>G	ExAC
ASXL1	Q8IXJ9	p.Arg620Pro	rs750708574	missense variant	-	NC_000020.11:g.32434571G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg620His	rs750708574	missense variant	-	NC_000020.11:g.32434571G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg620Cys	rs561663577	missense variant	-	NC_000020.11:g.32434570C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala621Pro	rs760727236	missense variant	-	NC_000020.11:g.32434573G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala621Thr	rs760727236	missense variant	-	NC_000020.11:g.32434573G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln623Ter	rs111316898	stop gained	-	NC_000020.11:g.32434579C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln623Ter	RCV000331527	nonsense	-	NC_000020.11:g.32434579C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg625Gln	rs199602042	missense variant	-	NC_000020.11:g.32434586G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly626Glu	rs1336373430	missense variant	-	NC_000020.11:g.32434589G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala627Val	rs1162384519	missense variant	-	NC_000020.11:g.32434592C>T	gnomAD
ASXL1	Q8IXJ9	p.Gly629Val	rs1307506315	missense variant	-	NC_000020.11:g.32434598G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly629Ser	rs752546076	missense variant	-	NC_000020.11:g.32434597G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.His631Leu	rs758334915	missense variant	-	NC_000020.11:g.32434604A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys632Ter	rs1356224550	stop gained	-	NC_000020.11:g.32434608C>A	gnomAD
ASXL1	Q8IXJ9	p.Cys632Tyr	rs930925893	missense variant	-	NC_000020.11:g.32434607G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His633Arg	rs201280462	missense variant	-	NC_000020.11:g.32434610A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu635Gly	rs746706200	missense variant	-	NC_000020.11:g.32434616A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala636Val	rs370230857	missense variant	-	NC_000020.11:g.32434619C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala637Gly	RCV000662110	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000020.11:g.32434622C>G	ClinVar
ASXL1	Q8IXJ9	p.Ala637Gly	RCV000662109	missense variant	Myelodysplastic syndrome (MDS)	NC_000020.11:g.32434622C>G	ClinVar
ASXL1	Q8IXJ9	p.Ala637Val	rs769053835	missense variant	-	NC_000020.11:g.32434622C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala637Gly	rs769053835	missense variant	-	NC_000020.11:g.32434622C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala637Thr	rs1183315960	missense variant	-	NC_000020.11:g.32434621G>A	gnomAD
ASXL1	Q8IXJ9	p.Ile641Ser	rs1425060838	missense variant	-	NC_000020.11:g.32434634T>G	gnomAD
ASXL1	Q8IXJ9	p.Ile641Val	rs1451193317	missense variant	-	NC_000020.11:g.32434633A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly642Ter	rs892732207	stop gained	-	NC_000020.11:g.32434636G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly642Arg	rs892732207	missense variant	-	NC_000020.11:g.32434636G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly643Arg	rs773395454	missense variant	-	NC_000020.11:g.32434639G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Trp	rs773395454	missense variant	-	NC_000020.11:g.32434639G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Val	rs201649676	missense variant	-	NC_000020.11:g.32434640G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Ala	rs201649676	missense variant	-	NC_000020.11:g.32434640G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Glu	rs201649676	missense variant	-	NC_000020.11:g.32434640G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly644Trp	rs533988689	missense variant	-	NC_000020.11:g.32434642G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly645Val	rs751215316	missense variant	-	NC_000020.11:g.32434646G>T	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Gly646Ter	RCV000677687	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32434646dup	ClinVar
ASXL1	Q8IXJ9	p.Gly646Ter	RCV000489373	frameshift	-	NC_000020.11:g.32434646dup	ClinVar
ASXL1	Q8IXJ9	p.Pro647Leu	rs745371501	missense variant	-	NC_000020.11:g.32434652C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro647Thr	rs1228100817	missense variant	-	NC_000020.11:g.32434651C>A	gnomAD
ASXL1	Q8IXJ9	p.Gly648Ala	rs1391303880	missense variant	-	NC_000020.11:g.32434655G>C	gnomAD
ASXL1	Q8IXJ9	p.Gly649Glu	rs1273026836	missense variant	-	NC_000020.11:g.32434658G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly652Ser	RCV000120105	missense variant	-	NC_000020.11:g.32434666G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly652Ser	rs3746609	missense variant	-	NC_000020.11:g.32434666G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly652Ser	RCV000273071	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434666G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly653Arg	rs537734228	missense variant	-	NC_000020.11:g.32434669G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly653Glu	rs1187663391	missense variant	-	NC_000020.11:g.32434670G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala654Asp	rs200756074	missense variant	-	NC_000020.11:g.32434673C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala654Val	rs200756074	missense variant	-	NC_000020.11:g.32434673C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala654Thr	rs1378106478	missense variant	-	NC_000020.11:g.32434672G>A	TOPMed
ASXL1	Q8IXJ9	p.Thr655Ala	rs776979634	missense variant	-	NC_000020.11:g.32434675A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp656Asn	rs765459479	missense variant	-	NC_000020.11:g.32434678G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser663Asn	rs763013543	missense variant	-	NC_000020.11:g.32434700G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser663Gly	rs775538653	missense variant	-	NC_000020.11:g.32434699A>G	ExAC
ASXL1	Q8IXJ9	p.Ser665Asn	rs963788591	missense variant	-	NC_000020.11:g.32434706G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser665Thr	rs963788591	missense variant	-	NC_000020.11:g.32434706G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly666Cys	rs973698132	missense variant	-	NC_000020.11:g.32434708G>T	TOPMed
ASXL1	Q8IXJ9	p.Asp667Asn	rs763933091	missense variant	-	NC_000020.11:g.32434711G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly669Asp	rs756863234	missense variant	-	NC_000020.11:g.32434718G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly669Ser	rs751323580	missense variant	-	NC_000020.11:g.32434717G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala671Gly	rs1270407759	missense variant	-	NC_000020.11:g.32434724C>G	gnomAD
ASXL1	Q8IXJ9	p.Cys672Tyr	rs1284133354	missense variant	-	NC_000020.11:g.32434727G>A	TOPMed
ASXL1	Q8IXJ9	p.His674Tyr	rs750146260	missense variant	-	NC_000020.11:g.32434732C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu676Lys	rs1026621329	missense variant	-	NC_000020.11:g.32434738G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly680Val	rs375968114	missense variant	-	NC_000020.11:g.32434751G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly680Asp	rs375968114	missense variant	-	NC_000020.11:g.32434751G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr683Ala	rs1245899583	missense variant	-	NC_000020.11:g.32434759A>G	gnomAD
ASXL1	Q8IXJ9	p.Pro684Leu	rs758924265	missense variant	-	NC_000020.11:g.32434763C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly685Arg	rs369152088	missense variant	-	NC_000020.11:g.32434765G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys686Arg	rs1323571527	missense variant	-	NC_000020.11:g.32434769A>G	TOPMed
ASXL1	Q8IXJ9	p.Cys687Tyr	rs142450571	missense variant	-	NC_000020.11:g.32434772G>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys687Ter	rs1160049111	stop gained	-	NC_000020.11:g.32434773T>A	TOPMed
ASXL1	Q8IXJ9	p.Cys687Arg	rs140197482	missense variant	-	NC_000020.11:g.32434771T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys687Gly	rs140197482	missense variant	-	NC_000020.11:g.32434771T>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr688Met	rs375094000	missense variant	-	NC_000020.11:g.32434775C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser689Ter	rs1387681483	stop gained	-	NC_000020.11:g.32434778C>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser689Ter	rs1387681483	stop gained	-	NC_000020.11:g.32434778C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln692Ter	rs1478929932	stop gained	-	NC_000020.11:g.32434786C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg693Ter	rs373221034	stop gained	-	NC_000020.11:g.32434789C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg693Ter	RCV000760645	nonsense	-	NC_000020.11:g.32434789C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro698Ser	rs1324197580	missense variant	-	NC_000020.11:g.32434804C>T	gnomAD
ASXL1	Q8IXJ9	p.Tyr700Ter	rs1261178797	stop gained	-	NC_000020.11:g.32434812T>A	TOPMed
ASXL1	Q8IXJ9	p.Tyr700Ter	RCV000660864	nonsense	Myelodysplasia	NC_000020.11:g.32434812T>A	ClinVar
ASXL1	Q8IXJ9	p.Tyr700Cys	rs1266159630	missense variant	-	NC_000020.11:g.32434811A>G	gnomAD
ASXL1	Q8IXJ9	p.Asn703Ser	rs764131486	missense variant	-	NC_000020.11:g.32434820A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly704Arg	rs151317625	missense variant	-	NC_000020.11:g.32434822G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly704Arg	rs151317625	missense variant	-	NC_000020.11:g.32434822G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly704Trp	rs151317625	missense variant	-	NC_000020.11:g.32434822G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly704Arg	RCV000382802	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434822G>A	ClinVar
ASXL1	Q8IXJ9	p.His706Arg	rs1054427525	missense variant	-	NC_000020.11:g.32434829A>G	TOPMed
ASXL1	Q8IXJ9	p.Gln708Ter	rs755789372	stop gained	-	NC_000020.11:g.32434834C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala709Thr	rs868859861	missense variant	-	NC_000020.11:g.32434837G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala709Ser	rs868859861	missense variant	-	NC_000020.11:g.32434837G>T	gnomAD
ASXL1	Q8IXJ9	p.Met713Ile	rs765820800	missense variant	-	NC_000020.11:g.32434851G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met713Val	rs1269615976	missense variant	-	NC_000020.11:g.32434849A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala716Val	rs1366033786	missense variant	-	NC_000020.11:g.32434859C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg717Ser	rs1337715441	missense variant	-	NC_000020.11:g.32434863G>C	TOPMed
ASXL1	Q8IXJ9	p.Arg718Gly	rs1158922559	missense variant	-	NC_000020.11:g.32434864A>G	gnomAD
ASXL1	Q8IXJ9	p.Arg718Lys	rs754554150	missense variant	-	NC_000020.11:g.32434865G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg725Lys	rs781644673	missense variant	-	NC_000020.11:g.32434886G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg725Ter	rs757533853	stop gained	-	NC_000020.11:g.32434885A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys726Ter	rs1415948169	stop gained	-	NC_000020.11:g.32434888A>T	TOPMed
ASXL1	Q8IXJ9	p.Lys726Arg	rs1239535844	missense variant	-	NC_000020.11:g.32434889A>G	gnomAD
ASXL1	Q8IXJ9	p.Glu727Ter	rs1264581343	stop gained	-	NC_000020.11:g.32434891G>T	gnomAD
ASXL1	Q8IXJ9	p.Glu727Gln	rs1264581343	missense variant	-	NC_000020.11:g.32434891G>C	gnomAD
ASXL1	Q8IXJ9	p.Leu731Arg	rs1292764187	missense variant	-	NC_000020.11:g.32434904T>G	gnomAD
ASXL1	Q8IXJ9	p.Leu732Pro	rs770152895	missense variant	-	NC_000020.11:g.32434907T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln733Ter	RCV000023980	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32434909C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln733Leu	rs370211132	missense variant	-	NC_000020.11:g.32434910A>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln733His	rs768911270	missense variant	-	NC_000020.11:g.32434911G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln733Ter	rs387907078	stop gained	-	NC_000020.11:g.32434909C>T	ExAC
ASXL1	Q8IXJ9	p.Arg734Gly	rs774130477	missense variant	-	NC_000020.11:g.32434912A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr736Ile	rs1392100102	missense variant	-	NC_000020.11:g.32434919C>T	gnomAD
ASXL1	Q8IXJ9	p.Val737Ala	rs761847705	missense variant	-	NC_000020.11:g.32434922T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly738Ter	rs1165142818	stop gained	-	NC_000020.11:g.32434924G>T	gnomAD
ASXL1	Q8IXJ9	p.Leu739Ile	rs771719149	missense variant	-	NC_000020.11:g.32434927C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr740Ile	rs773075570	missense variant	-	NC_000020.11:g.32434931C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp741Val	rs149971443	missense variant	-	NC_000020.11:g.32434934A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly742Trp	rs1375465937	missense variant	-	NC_000020.11:g.32434936G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly744Ter	rs1311916988	stop gained	-	NC_000020.11:g.32434942G>T	gnomAD
ASXL1	Q8IXJ9	p.Ala746Val	rs764844021	missense variant	-	NC_000020.11:g.32434949C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala746Thr	rs759026497	missense variant	-	NC_000020.11:g.32434948G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln748Ter	rs1202551247	stop gained	-	NC_000020.11:g.32434954C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro750Ser	rs1218506765	missense variant	-	NC_000020.11:g.32434960C>T	TOPMed
ASXL1	Q8IXJ9	p.Val751Ile	RCV000284499	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434963G>A	ClinVar
ASXL1	Q8IXJ9	p.Val751Phe	rs6058693	missense variant	-	NC_000020.11:g.32434963G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val751Ile	rs6058693	missense variant	-	NC_000020.11:g.32434963G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr754Ser	rs1184551610	missense variant	-	NC_000020.11:g.32434973C>G	gnomAD
ASXL1	Q8IXJ9	p.Thr754Ser	rs749566656	missense variant	-	NC_000020.11:g.32434972A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr754Ala	rs749566656	missense variant	-	NC_000020.11:g.32434972A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp756Ala	rs768821774	missense variant	-	NC_000020.11:g.32434979A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln757Ter	rs779078826	stop gained	-	NC_000020.11:g.32434981C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln760Ter	rs1167715259	stop gained	-	NC_000020.11:g.32434990C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala761Thr	rs146052718	missense variant	-	NC_000020.11:g.32434993G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu765Pro	rs1171138318	missense variant	-	NC_000020.11:g.32435006T>C	TOPMed
ASXL1	Q8IXJ9	p.Ser766Phe	rs1364748695	missense variant	-	NC_000020.11:g.32435009C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser767Tyr	rs376999466	missense variant	-	NC_000020.11:g.32435012C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln768Ter	rs770762273	stop gained	-	NC_000020.11:g.32435014C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr769Ile	rs1308210159	missense variant	-	NC_000020.11:g.32435018C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser770Ter	rs776235263	stop gained	-	NC_000020.11:g.32435021C>A	ExAC
ASXL1	Q8IXJ9	p.Ala772Thr	rs1261856158	missense variant	-	NC_000020.11:g.32435026G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala772Pro	rs1261856158	missense variant	-	NC_000020.11:g.32435026G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala772Val	rs1463010740	missense variant	-	NC_000020.11:g.32435027C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu773Ter	rs759218892	stop gained	-	NC_000020.11:g.32435029G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu773Gln	rs759218892	missense variant	-	NC_000020.11:g.32435029G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg774Gly	rs764604832	missense variant	-	NC_000020.11:g.32435032A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu775Ter	rs752263134	stop gained	-	NC_000020.11:g.32435036T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu775Ter	rs752263134	stop gained	-	NC_000020.11:g.32435036T>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro779Leu	rs41289850	missense variant	-	NC_000020.11:g.32435048C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln780Ter	rs751021760	stop gained	-	NC_000020.11:g.32435050C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro783Leu	rs375321203	missense variant	-	NC_000020.11:g.32435060C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro783Ala	rs1320557612	missense variant	-	NC_000020.11:g.32435059C>G	TOPMed
ASXL1	Q8IXJ9	p.Asp784Asn	rs780602254	missense variant	-	NC_000020.11:g.32435062G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg786Lys	rs754070978	missense variant	-	NC_000020.11:g.32435069G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr787Asn	rs1290901944	missense variant	-	NC_000020.11:g.32435072C>A	gnomAD
ASXL1	Q8IXJ9	p.Thr787Ala	rs755243804	missense variant	-	NC_000020.11:g.32435071A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu788Ter	rs1402270258	stop gained	-	NC_000020.11:g.32435074G>T	TOPMed
ASXL1	Q8IXJ9	p.Cys789Trp	rs1163284834	missense variant	-	NC_000020.11:g.32435079T>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys789Tyr	rs1386308534	missense variant	-	NC_000020.11:g.32435078G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu790Ter	RCV000722668	nonsense	-	NC_000020.11:g.32435079dup	ClinVar
ASXL1	Q8IXJ9	p.Glu790Lys	rs748259651	missense variant	-	NC_000020.11:g.32435080G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly792Ala	rs377589713	missense variant	-	NC_000020.11:g.32435087G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr794Ala	rs777666293	missense variant	-	NC_000020.11:g.32435092A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser795Phe	rs746990403	missense variant	-	NC_000020.11:g.32435096C>T	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Trp796Ser	RCV000396645	missense variant	-	NC_000020.11:g.32435099G>C	ClinVar
ASXL1	Q8IXJ9	p.Trp796Ter	rs770674396	stop gained	-	NC_000020.11:g.32435099G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp796Ser	rs770674396	missense variant	-	NC_000020.11:g.32435099G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser798Gly	rs148047779	missense variant	-	NC_000020.11:g.32435104A>G	ESP
ASXL1	Q8IXJ9	p.Asp799Tyr	rs143594454	missense variant	-	NC_000020.11:g.32435107G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp799Tyr	RCV000120107	missense variant	-	NC_000020.11:g.32435107G>T	ClinVar
ASXL1	Q8IXJ9	p.Asp800Glu	rs1178321509	missense variant	-	NC_000020.11:g.32435112T>G	TOPMed
ASXL1	Q8IXJ9	p.Glu801Val	rs769490912	missense variant	-	NC_000020.11:g.32435114A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln803Ter	rs775071544	stop gained	-	NC_000020.11:g.32435119C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro805Thr	rs370929899	missense variant	-	NC_000020.11:g.32435125C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr806Pro	rs763556409	missense variant	-	NC_000020.11:g.32435128A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr806Ile	rs775227254	missense variant	-	NC_000020.11:g.32435129C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val807Ala	rs1223133675	missense variant	-	NC_000020.11:g.32435132T>C	TOPMed
ASXL1	Q8IXJ9	p.Val807Ile	rs138624526	missense variant	-	NC_000020.11:g.32435131G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val807Ile	RCV000297894	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435131G>A	ClinVar
ASXL1	Q8IXJ9	p.Pro808Leu	rs141610022	missense variant	-	NC_000020.11:g.32435135C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808Ala	rs368640734	missense variant	-	NC_000020.11:g.32435134C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808Ser	rs368640734	missense variant	-	NC_000020.11:g.32435134C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808His	rs141610022	missense variant	-	NC_000020.11:g.32435135C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp810Gly	rs765488094	missense variant	-	NC_000020.11:g.32435141A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn811Ser	RCV000336523	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435144A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn811Asp	rs752916428	missense variant	-	NC_000020.11:g.32435143A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn811Ser	rs758473430	missense variant	-	NC_000020.11:g.32435144A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro813Leu	rs1386086869	missense variant	-	NC_000020.11:g.32435150C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro813Ser	rs1307463870	missense variant	-	NC_000020.11:g.32435149C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro815Leu	rs6058694	missense variant	-	NC_000020.11:g.32435156C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp820Val	rs1285319437	missense variant	-	NC_000020.11:g.32435171A>T	gnomAD
ASXL1	Q8IXJ9	p.Asp820Asn	rs757201886	missense variant	-	NC_000020.11:g.32435170G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp821Asn	rs1366325013	missense variant	-	NC_000020.11:g.32435173G>A	TOPMed
ASXL1	Q8IXJ9	p.Asp821Gly	rs780896078	missense variant	-	NC_000020.11:g.32435174A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu823Ser	rs140139096	missense variant	-	NC_000020.11:g.32435180T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu824Gln	rs532964069	missense variant	-	NC_000020.11:g.32435182G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu824Gly	rs775181549	missense variant	-	NC_000020.11:g.32435183A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys825Ile	rs748929407	missense variant	-	NC_000020.11:g.32435186A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly826Ter	RCV000479943	frameshift	-	NC_000020.11:g.32435189del	ClinVar
ASXL1	Q8IXJ9	p.Gly826Ter	rs774018728	stop gained	-	NC_000020.11:g.32435188G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly828Asp	rs372805894	missense variant	-	NC_000020.11:g.32435195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu831Phe	rs777338946	missense variant	-	NC_000020.11:g.32435203C>T	ExAC
ASXL1	Q8IXJ9	p.Asp832Ter	RCV000723267	frameshift	-	NC_000020.11:g.32435207_32435210del	ClinVar
ASXL1	Q8IXJ9	p.Asp832Gly	rs759926643	missense variant	-	NC_000020.11:g.32435207A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser833Asn	rs765560488	missense variant	-	NC_000020.11:g.32435210G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr836Ala	rs373580114	missense variant	-	NC_000020.11:g.32435218A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr836Pro	rs373580114	missense variant	-	NC_000020.11:g.32435218A>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met837Thr	rs1353280422	missense variant	-	NC_000020.11:g.32435222T>C	gnomAD
ASXL1	Q8IXJ9	p.Lys838Asn	rs763660723	missense variant	-	NC_000020.11:g.32435226G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys838Arg	RCV000437602	missense variant	-	NC_000020.11:g.32435225A>G	ClinVar
ASXL1	Q8IXJ9	p.Lys838Arg	rs35632616	missense variant	-	NC_000020.11:g.32435225A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val841Ala	rs751641574	missense variant	-	NC_000020.11:g.32435234T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn842Ser	rs367751731	missense variant	-	NC_000020.11:g.32435237A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val843Ala	rs750376029	missense variant	-	NC_000020.11:g.32435240T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser846Asn	rs148575778	missense variant	-	NC_000020.11:g.32435249G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser846Arg	rs1233368049	missense variant	-	NC_000020.11:g.32435248A>C	gnomAD
ASXL1	Q8IXJ9	p.Ser851Phe	rs1167411017	missense variant	-	NC_000020.11:g.32435264C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser852Leu	rs371542005	missense variant	-	NC_000020.11:g.32435267C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro853Leu	rs147666865	missense variant	-	NC_000020.11:g.32435270C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys856Ter	rs140851370	stop gained	-	NC_000020.11:g.32435280C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln858Arg	rs1429658374	missense variant	-	NC_000020.11:g.32435285A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala861Ser	rs1170492819	missense variant	-	NC_000020.11:g.32435293G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp863Gly	rs764294559	missense variant	-	NC_000020.11:g.32435300A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu865Ter	rs147895689	stop gained	-	NC_000020.11:g.32435305G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu865Lys	rs147895689	missense variant	-	NC_000020.11:g.32435305G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu865Asp	rs767625019	missense variant	-	NC_000020.11:g.32435307A>T	ExAC
ASXL1	Q8IXJ9	p.Leu868Arg	rs1448291477	missense variant	-	NC_000020.11:g.32435315T>G	TOPMed
ASXL1	Q8IXJ9	p.Cys872Trp	rs779837740	missense variant	-	NC_000020.11:g.32435328C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro873Ser	rs932939917	missense variant	-	NC_000020.11:g.32435329C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro873Leu	rs202098158	missense variant	-	NC_000020.11:g.32435330C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro874Ser	rs778687016	missense variant	-	NC_000020.11:g.32435332C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met875Val	rs747843845	missense variant	-	NC_000020.11:g.32435335A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met875Arg	rs1482135728	missense variant	-	NC_000020.11:g.32435336T>G	TOPMed
ASXL1	Q8IXJ9	p.Glu877Ala	rs771673303	missense variant	-	NC_000020.11:g.32435342A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser878Gly	rs1168526965	missense variant	-	NC_000020.11:g.32435344A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser878Arg	rs777174656	missense variant	-	NC_000020.11:g.32435346T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg881Ter	rs746330612	stop gained	-	NC_000020.11:g.32435353A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln882Ter	rs770209084	stop gained	-	NC_000020.11:g.32435356C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys888Glu	rs1317256185	missense variant	-	NC_000020.11:g.32435374A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala889Thr	rs763287860	missense variant	-	NC_000020.11:g.32435377G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val891Ile	rs774520876	missense variant	-	NC_000020.11:g.32435383G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser892Pro	rs1339444705	missense variant	-	NC_000020.11:g.32435386T>C	gnomAD
ASXL1	Q8IXJ9	p.Asn893Thr	rs762053816	missense variant	-	NC_000020.11:g.32435390A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser895Cys	rs767583580	missense variant	-	NC_000020.11:g.32435396C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu896Ser	rs1204296403	missense variant	-	NC_000020.11:g.32435399T>C	gnomAD
ASXL1	Q8IXJ9	p.His897Arg	rs750481621	missense variant	-	NC_000020.11:g.32435402A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp898Ter	rs760592730	stop gained	-	NC_000020.11:g.32435406G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp898Cys	rs760592730	missense variant	-	NC_000020.11:g.32435406G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile899Thr	rs766215027	missense variant	-	NC_000020.11:g.32435408T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile901Ser	rs753864486	missense variant	-	NC_000020.11:g.32435414T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile901Thr	rs753864486	missense variant	-	NC_000020.11:g.32435414T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro902Gln	rs886848485	missense variant	-	NC_000020.11:g.32435417C>A	TOPMed
ASXL1	Q8IXJ9	p.Ser903Leu	rs754790367	missense variant	-	NC_000020.11:g.32435420C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn904Ser	rs765155567	missense variant	-	NC_000020.11:g.32435423A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp905Val	rs758140687	missense variant	-	NC_000020.11:g.32435426A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp905Gly	rs758140687	missense variant	-	NC_000020.11:g.32435426A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp905His	rs752352233	missense variant	-	NC_000020.11:g.32435425G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu906Ter	rs1402018333	stop gained	-	NC_000020.11:g.32435428G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu906Gln	rs1402018333	missense variant	-	NC_000020.11:g.32435428G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val907Ile	rs201990697	missense variant	-	NC_000020.11:g.32435431G>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro911Leu	rs780400187	missense variant	-	NC_000020.11:g.32435444C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro911Ser	rs371903529	missense variant	-	NC_000020.11:g.32435443C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys912Ter	rs749831576	stop gained	-	NC_000020.11:g.32435446A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu914Gly	rs1046040722	missense variant	-	NC_000020.11:g.32435453A>G	TOPMed
ASXL1	Q8IXJ9	p.Ile919Thr	rs549809573	missense variant	-	NC_000020.11:g.32435468T>C	1000Genomes,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Ser921Pro	rs1457205853	missense variant	-	NC_000020.11:g.32435473T>C	TOPMed
ASXL1	Q8IXJ9	p.Val922Ter	RCV000623209	frameshift	Inborn genetic diseases	NC_000020.11:g.32435475_32435482delinsCAA	ClinVar
ASXL1	Q8IXJ9	p.Pro924Ala	rs772187243	missense variant	-	NC_000020.11:g.32435482C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln925His	rs1201635933	missense variant	-	NC_000020.11:g.32435487G>C	gnomAD
ASXL1	Q8IXJ9	p.Gln925Ter	rs387907077	stop gained	-	NC_000020.11:g.32435485C>T	-
ASXL1	Q8IXJ9	p.Gln925Ter	RCV000023976	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435485C>T	ClinVar
ASXL1	Q8IXJ9	p.Val926Ile	rs150338765	missense variant	-	NC_000020.11:g.32435488G>A	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val926Leu	rs150338765	missense variant	-	NC_000020.11:g.32435488G>C	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly927Arg	rs1270268473	missense variant	-	NC_000020.11:g.32435491G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu928Gly	rs1418949221	missense variant	-	NC_000020.11:g.32435495A>G	gnomAD
ASXL1	Q8IXJ9	p.Trp930Ter	RCV000760833	nonsense	-	NC_000020.11:g.32435502G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu931Ter	RCV000623598	frameshift	Inborn genetic diseases	NC_000020.11:g.32435503del	ClinVar
ASXL1	Q8IXJ9	p.Lys932Asn	rs886056600	missense variant	-	NC_000020.11:g.32435508A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala934Ser	rs773543958	missense variant	-	NC_000020.11:g.32435512G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro937Ter	RCV000481700	frameshift	-	NC_000020.11:g.32435522del	ClinVar
ASXL1	Q8IXJ9	p.Leu940Val	rs1422246990	missense variant	-	NC_000020.11:g.32435530T>G	gnomAD
ASXL1	Q8IXJ9	p.Thr945Ile	rs1391377712	missense variant	-	NC_000020.11:g.32435546C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu947Gly	rs776670551	missense variant	-	NC_000020.11:g.32435552A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu948Lys	rs1173257390	missense variant	-	NC_000020.11:g.32435554G>A	gnomAD
ASXL1	Q8IXJ9	p.Asp951Asn	rs1021817273	missense variant	-	NC_000020.11:g.32435563G>A	TOPMed
ASXL1	Q8IXJ9	p.Asp951Gly	rs1162142245	missense variant	-	NC_000020.11:g.32435564A>G	TOPMed
ASXL1	Q8IXJ9	p.Pro952Ala	rs1337364512	missense variant	-	NC_000020.11:g.32435566C>G	gnomAD
ASXL1	Q8IXJ9	p.Leu953Phe	rs759572953	missense variant	-	NC_000020.11:g.32435569C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp954Glu	rs752471895	missense variant	-	NC_000020.11:g.32435574C>A	TOPMed
ASXL1	Q8IXJ9	p.Ser955Gly	rs369771079	missense variant	-	NC_000020.11:g.32435575A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser955Ile	rs752548239	missense variant	-	NC_000020.11:g.32435576G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu956Val	rs1236179195	missense variant	-	NC_000020.11:g.32435578C>G	TOPMed
ASXL1	Q8IXJ9	p.Thr957Ala	rs1266042922	missense variant	-	NC_000020.11:g.32435581A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr957Pro	rs1266042922	missense variant	-	NC_000020.11:g.32435581A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser958Leu	rs763638795	missense variant	-	NC_000020.11:g.32435585C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu959His	rs751271712	missense variant	-	NC_000020.11:g.32435588T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Trp960Ter	rs756688220	stop gained	-	NC_000020.11:g.32435592G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Trp960Ter	rs1438791925	stop gained	-	NC_000020.11:g.32435591G>A	gnomAD
ASXL1	Q8IXJ9	p.Val962Ala	rs1442331965	missense variant	-	NC_000020.11:g.32435597T>C	gnomAD
ASXL1	Q8IXJ9	p.Pro963Leu	rs1164938216	missense variant	-	NC_000020.11:g.32435600C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser964Phe	rs749746806	missense variant	-	NC_000020.11:g.32435603C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg965Ter	RCV000255108	nonsense	-	NC_000020.11:g.32435605C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg965Ter	rs397515401	stop gained	-	NC_000020.11:g.32435605C>T	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Arg965Ter	RCV000032665	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435605C>T	ClinVar
ASXL1	Q8IXJ9	p.Asp969Asn	rs1461025360	missense variant	-	NC_000020.11:g.32435617G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser970Gly	RCV000309886	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435620A>G	ClinVar
ASXL1	Q8IXJ9	p.Ser970Gly	rs886056601	missense variant	-	NC_000020.11:g.32435620A>G	TOPMed
ASXL1	Q8IXJ9	p.Asn971Ser	rs779180512	missense variant	-	NC_000020.11:g.32435624A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn971Lys	rs199785280	missense variant	-	NC_000020.11:g.32435625T>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly972Val	rs748505783	missense variant	-	NC_000020.11:g.32435627G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser973Asn	rs773277713	missense variant	-	NC_000020.11:g.32435630G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser973Gly	rs772538894	missense variant	-	NC_000020.11:g.32435629A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr974His	rs747287523	missense variant	-	NC_000020.11:g.32435632T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Tyr974Ter	RCV000255194	nonsense	-	NC_000020.11:g.32435634C>A	ClinVar
ASXL1	Q8IXJ9	p.Tyr974Ter	rs886039722	stop gained	-	NC_000020.11:g.32435634C>A	-
ASXL1	Q8IXJ9	p.Gln976Ter	rs776868653	stop gained	-	NC_000020.11:g.32435638C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln976Glu	rs776868653	missense variant	-	NC_000020.11:g.32435638C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln977Ter	rs1366953593	stop gained	-	NC_000020.11:g.32435641C>T	TOPMed
ASXL1	Q8IXJ9	p.Ile980Val	rs765264117	missense variant	-	NC_000020.11:g.32435650A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile980Asn	rs775628738	missense variant	-	NC_000020.11:g.32435651T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu981Lys	rs762630959	missense variant	-	NC_000020.11:g.32435653G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu981Gly	rs763987748	missense variant	-	NC_000020.11:g.32435654A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys982Ter	rs1462930926	stop gained	-	NC_000020.11:g.32435656A>T	gnomAD
ASXL1	Q8IXJ9	p.Lys984Ile	rs1183288483	missense variant	-	NC_000020.11:g.32435663A>T	gnomAD
ASXL1	Q8IXJ9	p.Asn986Ser	RCV000362320	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435669A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn986Ser	rs145132837	missense variant	-	NC_000020.11:g.32435669A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly987Arg	rs376074119	missense variant	-	NC_000020.11:g.32435671G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp988Glu	rs749938743	missense variant	-	NC_000020.11:g.32435676C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp988Ter	RCV000481961	nonsense	-	NC_000020.11:g.32435676_32435677CT[1]	ClinVar
ASXL1	Q8IXJ9	p.Ser989Phe	rs1362999533	missense variant	-	NC_000020.11:g.32435678C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser993Asn	rs1226960123	missense variant	-	NC_000020.11:g.32435690G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro994Leu	rs779372602	missense variant	-	NC_000020.11:g.32435693C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly996Ser	rs1297740523	missense variant	-	NC_000020.11:g.32435698G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu997Lys	rs786205552	missense variant	-	NC_000020.11:g.32435701G>A	TOPMed
ASXL1	Q8IXJ9	p.Glu997Gln	RCV000171345	missense variant	-	NC_000020.11:g.32435701G>C	ClinVar
ASXL1	Q8IXJ9	p.Glu997Gln	rs786205552	missense variant	-	NC_000020.11:g.32435701G>C	TOPMed
ASXL1	Q8IXJ9	p.Ser998Thr	rs758650315	missense variant	-	NC_000020.11:g.32435704T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr999Met	rs778222400	missense variant	-	NC_000020.11:g.32435708C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1000His	rs771192600	missense variant	-	NC_000020.11:g.32435710G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1000Gly	rs781631529	missense variant	-	NC_000020.11:g.32435711A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1000Val	rs781631529	missense variant	-	NC_000020.11:g.32435711A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1001Ala	rs1217127877	missense variant	-	NC_000020.11:g.32435713A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1003Ala	rs1222268104	missense variant	-	NC_000020.11:g.32435719T>G	TOPMed
ASXL1	Q8IXJ9	p.Thr1010Met	rs116112525	missense variant	-	NC_000020.11:g.32435741C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1010Met	RCV000322609	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435741C>T	ClinVar
ASXL1	Q8IXJ9	p.Thr1010Arg	rs116112525	missense variant	-	NC_000020.11:g.32435741C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1014Asn	rs762976045	missense variant	-	NC_000020.11:g.32435753G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1014Thr	rs762976045	missense variant	-	NC_000020.11:g.32435753G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1014Arg	rs1358222587	missense variant	-	NC_000020.11:g.32435752A>C	TOPMed
ASXL1	Q8IXJ9	p.Glu1015Gly	rs774209416	missense variant	-	NC_000020.11:g.32435756A>G	ExAC
ASXL1	Q8IXJ9	p.Ala1016GlnTer	RCV000483005	nonsense	-	NC_000020.11:g.32435751_32435757dup	ClinVar
ASXL1	Q8IXJ9	p.Ala1016Val	rs1470848941	missense variant	-	NC_000020.11:g.32435759C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1017His	rs1465626973	missense variant	-	NC_000020.11:g.32435761G>C	gnomAD
ASXL1	Q8IXJ9	p.Asp1017Ala	rs545071926	missense variant	-	NC_000020.11:g.32435762A>C	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1018Pro	rs560170731	missense variant	-	NC_000020.11:g.32435764A>C	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1018Ser	rs560170731	missense variant	-	NC_000020.11:g.32435764A>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1019Ser	rs1451811723	missense variant	-	NC_000020.11:g.32435769A>C	gnomAD
ASXL1	Q8IXJ9	p.Arg1019Gly	rs760148910	missense variant	-	NC_000020.11:g.32435767A>G	ExAC
ASXL1	Q8IXJ9	p.Glu1020Lys	rs765907136	missense variant	-	NC_000020.11:g.32435770G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1022Val	rs1170698088	missense variant	-	NC_000020.11:g.32435777C>T	TOPMed
ASXL1	Q8IXJ9	p.Lys1025Thr	rs1341269354	missense variant	-	NC_000020.11:g.32435786A>C	gnomAD
ASXL1	Q8IXJ9	p.Ser1028Ter	rs200702600	stop gained	-	NC_000020.11:g.32435795C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1028Leu	rs200702600	missense variant	-	NC_000020.11:g.32435795C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1028Leu	RCV000120095	missense variant	-	NC_000020.11:g.32435795C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1028Ala	rs1046578139	missense variant	-	NC_000020.11:g.32435794T>G	TOPMed
ASXL1	Q8IXJ9	p.Ser1028Ter	RCV000023978	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435795C>A	ClinVar
ASXL1	Q8IXJ9	p.Asp1030Gly	rs758957849	missense variant	-	NC_000020.11:g.32435801A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1032Ala	rs377541442	missense variant	-	NC_000020.11:g.32435807A>C	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1033Val	rs192330235	missense variant	-	NC_000020.11:g.32435810A>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1034Asn	rs751952846	missense variant	-	NC_000020.11:g.32435814A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1036Ser	rs757758145	missense variant	-	NC_000020.11:g.32435819A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1036Lys	rs781544629	missense variant	-	NC_000020.11:g.32435820T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp1037Ter	rs1555912419	stop gained	-	NC_000020.11:g.32435823G>A	-
ASXL1	Q8IXJ9	p.Trp1037Ter	RCV000622812	nonsense	Inborn genetic diseases	NC_000020.11:g.32435823G>A	ClinVar
ASXL1	Q8IXJ9	p.Gln1039Ter	rs1221031683	stop gained	-	NC_000020.11:g.32435827C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala1041Val	rs769951435	missense variant	-	NC_000020.11:g.32435834C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1044Cys	rs1191559798	missense variant	-	NC_000020.11:g.32435843C>G	gnomAD
ASXL1	Q8IXJ9	p.Lys1045Arg	rs780299749	missense variant	-	NC_000020.11:g.32435846A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1046Met	rs1417067472	missense variant	-	NC_000020.11:g.32435848G>A	gnomAD
ASXL1	Q8IXJ9	p.Val1046Ala	rs749118360	missense variant	-	NC_000020.11:g.32435849T>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1048Ser	rs1361367953	missense variant	-	NC_000020.11:g.32435854G>A	gnomAD
ASXL1	Q8IXJ9	p.Asp1049Ter	RCV000255751	frameshift	-	NC_000020.11:g.32435856_32435857del	ClinVar
ASXL1	Q8IXJ9	p.Met1050Thr	rs374141406	missense variant	-	NC_000020.11:g.32435861T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1050Val	rs370804022	missense variant	-	NC_000020.11:g.32435860A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1051Cys	rs768333722	missense variant	-	NC_000020.11:g.32435863C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1051His	rs771896604	missense variant	-	NC_000020.11:g.32435864G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1051Ser	rs768333722	missense variant	-	NC_000020.11:g.32435863C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1057Glu	rs772813587	missense variant	-	NC_000020.11:g.32435883T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1058Arg	rs760343023	missense variant	-	NC_000020.11:g.32435884G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1060Ile	rs138521991	missense variant	-	NC_000020.11:g.32435890G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1062Ser	rs776213974	missense variant	-	NC_000020.11:g.32435896C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1063Ter	rs1311033207	stop gained	-	NC_000020.11:g.32435899C>T	gnomAD
ASXL1	Q8IXJ9	p.Trp1065Arg	rs1353911031	missense variant	-	NC_000020.11:g.32435905T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1067Phe	rs759039831	missense variant	-	NC_000020.11:g.32435912C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1068Ter	RCV000655943	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435914C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg1068Ter	rs764651405	stop gained	-	NC_000020.11:g.32435914C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1068Gln	rs752058283	missense variant	-	NC_000020.11:g.32435915G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1069Ile	rs560992020	missense variant	-	NC_000020.11:g.32435917G>A	1000Genomes,ExAC
ASXL1	Q8IXJ9	p.Cys1070Tyr	rs1222290644	missense variant	-	NC_000020.11:g.32435921G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1071Val	RCV000361222	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435924C>T	ClinVar
ASXL1	Q8IXJ9	p.Ala1071Val	rs531415735	missense variant	-	NC_000020.11:g.32435924C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1071Thr	rs768022784	missense variant	-	NC_000020.11:g.32435923G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1072Asp	rs779930291	missense variant	-	NC_000020.11:g.32435927T>A	ExAC
ASXL1	Q8IXJ9	p.Arg1073Cys	rs549552934	missense variant	-	NC_000020.11:g.32435929C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1073Ser	rs549552934	missense variant	-	NC_000020.11:g.32435929C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1073Pro	rs1444168328	missense variant	-	NC_000020.11:g.32435930G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1073His	rs1444168328	missense variant	-	NC_000020.11:g.32435930G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1077Ser	rs1161902700	missense variant	-	NC_000020.11:g.32435941C>T	gnomAD
ASXL1	Q8IXJ9	p.Asp1078Tyr	rs1416128377	missense variant	-	NC_000020.11:g.32435944G>T	gnomAD
ASXL1	Q8IXJ9	p.Ser1079Pro	rs778886643	missense variant	-	NC_000020.11:g.32435947T>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1089Ser	rs1237208885	missense variant	-	NC_000020.11:g.32435977C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1089Leu	rs1182142498	missense variant	-	NC_000020.11:g.32435978C>T	TOPMed
ASXL1	Q8IXJ9	p.Val1092Met	rs771806916	missense variant	-	NC_000020.11:g.32435986G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1095Cys	rs746598633	missense variant	-	NC_000020.11:g.32435996C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1096Ile	rs1305212991	missense variant	-	NC_000020.11:g.32436000G>T	TOPMed
ASXL1	Q8IXJ9	p.Met1096Val	rs770570065	missense variant	-	NC_000020.11:g.32435998A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1097Leu	rs1274527593	missense variant	-	NC_000020.11:g.32436002C>T	TOPMed
ASXL1	Q8IXJ9	p.Glu1102Asp	rs139115934	missense variant	-	NC_000020.11:g.32436018G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1102Asp	RCV000120108	missense variant	-	NC_000020.11:g.32436018G>T	ClinVar
ASXL1	Q8IXJ9	p.Thr1104Ser	rs759066149	missense variant	-	NC_000020.11:g.32436023C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1104Ala	rs952607481	missense variant	-	NC_000020.11:g.32436022A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1105Tyr	rs764696313	missense variant	-	NC_000020.11:g.32436025A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1108Ala	rs1454365420	missense variant	-	NC_000020.11:g.32436035T>C	TOPMed
ASXL1	Q8IXJ9	p.Val1108Met	rs1182034797	missense variant	-	NC_000020.11:g.32436034G>A	gnomAD
ASXL1	Q8IXJ9	p.Met1109Ile	rs750818466	missense variant	-	NC_000020.11:g.32436039G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1109Thr	rs767930961	missense variant	-	NC_000020.11:g.32436038T>C	ExAC
ASXL1	Q8IXJ9	p.Met1109Val	rs1239404668	missense variant	-	NC_000020.11:g.32436037A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1110Glu	rs756612309	missense variant	-	NC_000020.11:g.32436040C>G	ExAC
ASXL1	Q8IXJ9	p.Leu1112Met	rs370068525	missense variant	-	NC_000020.11:g.32436046C>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1115Asn	rs1418007201	missense variant	-	NC_000020.11:g.32436056G>A	gnomAD
ASXL1	Q8IXJ9	p.Pro1117Ser	rs1172005201	missense variant	-	NC_000020.11:g.32436061C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu1119Asp	rs1450882082	missense variant	-	NC_000020.11:g.32436069G>C	gnomAD
ASXL1	Q8IXJ9	p.Lys1120Met	rs778883995	missense variant	-	NC_000020.11:g.32436071A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1121Ile	rs961492113	missense variant	-	NC_000020.11:g.32436073G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1123Leu	rs11549643	missense variant	-	NC_000020.11:g.32436080C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1124Leu	rs777758375	missense variant	-	NC_000020.11:g.32436083C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1124Ser	rs758338148	missense variant	-	NC_000020.11:g.32436082C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1125Val	rs1258611317	missense variant	-	NC_000020.11:g.32436086C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His1126Tyr	rs746797164	missense variant	-	NC_000020.11:g.32436088C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1127Glu	rs565958361	missense variant	-	NC_000020.11:g.32436093T>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1127Asn	rs201009558	missense variant	-	NC_000020.11:g.32436091G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1131Pro	rs774873057	missense variant	-	NC_000020.11:g.32436103T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1133Phe	rs1244161898	missense variant	-	NC_000020.11:g.32436110C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1134Ala	rs1479950391	missense variant	-	NC_000020.11:g.32436112C>G	TOPMed
ASXL1	Q8IXJ9	p.Pro1134Leu	rs367744979	missense variant	-	NC_000020.11:g.32436113C>T	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1135Arg	rs773913292	missense variant	-	NC_000020.11:g.32436116A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1135Glu	rs1429162146	missense variant	-	NC_000020.11:g.32436115C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1136Ile	rs766691864	missense variant	-	NC_000020.11:g.32436118G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1136Leu	rs766691864	missense variant	-	NC_000020.11:g.32436118G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1139Ala	rs1414751361	missense variant	-	NC_000020.11:g.32436127A>G	gnomAD
ASXL1	Q8IXJ9	p.Thr1139Arg	rs371545683	missense variant	-	NC_000020.11:g.32436128C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1139Lys	rs371545683	missense variant	-	NC_000020.11:g.32436128C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1139Ile	rs371545683	missense variant	-	NC_000020.11:g.32436128C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1141Ala	rs765294324	missense variant	-	NC_000020.11:g.32436134A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1143Arg	rs752770575	missense variant	-	NC_000020.11:g.32436139A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His1144Arg	rs758535168	missense variant	-	NC_000020.11:g.32436143A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1145Asp	rs777670355	missense variant	-	NC_000020.11:g.32436146G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1146Leu	rs757040754	missense variant	-	NC_000020.11:g.32436149C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1148Cys	rs139435094	missense variant	-	NC_000020.11:g.32436154C>T	ESP,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Arg1148Leu	rs555465153	missense variant	-	NC_000020.11:g.32436155G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1148His	rs555465153	missense variant	-	NC_000020.11:g.32436155G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1148Cys	RCV000120096	missense variant	-	NC_000020.11:g.32436154C>T	ClinVar
ASXL1	Q8IXJ9	p.Met1149Thr	rs779916654	missense variant	-	NC_000020.11:g.32436158T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1149Ile	rs370415624	missense variant	-	NC_000020.11:g.32436159G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1149Val	rs1217380834	missense variant	-	NC_000020.11:g.32436157A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1149Leu	rs1217380834	missense variant	-	NC_000020.11:g.32436157A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1150Val	rs773823004	missense variant	-	NC_000020.11:g.32436161G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1150Glu	rs773823004	missense variant	-	NC_000020.11:g.32436161G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1150Arg	rs374632491	missense variant	-	NC_000020.11:g.32436160G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1152Ser	rs1417772319	missense variant	-	NC_000020.11:g.32436167T>C	TOPMed
ASXL1	Q8IXJ9	p.His1153Arg	rs761116566	missense variant	-	NC_000020.11:g.32436170A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1154Arg	rs199571804	missense variant	-	NC_000020.11:g.32436172G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1154Cys	rs199571804	missense variant	-	NC_000020.11:g.32436172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1155Ile	rs776864243	missense variant	-	NC_000020.11:g.32436175C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1157Glu	rs570096882	missense variant	-	NC_000020.11:g.32436181A>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys1157Arg	rs752970560	missense variant	-	NC_000020.11:g.32436182A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn1158Lys	rs1350655725	missense variant	-	NC_000020.11:g.32436186C>A	gnomAD
ASXL1	Q8IXJ9	p.Met1161Thr	rs764192497	missense variant	-	NC_000020.11:g.32436194T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1161Ile	rs1224195364	missense variant	-	NC_000020.11:g.32436195G>A	TOPMed
ASXL1	Q8IXJ9	p.Asp1163Asn	rs371131434	missense variant	-	NC_000020.11:g.32436199G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1163Gly	rs780969167	missense variant	-	NC_000020.11:g.32436200A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1166Arg	RCV000120097	missense variant	-	NC_000020.11:g.32436210C>G	ClinVar
ASXL1	Q8IXJ9	p.Ser1166Arg	rs75887545	missense variant	-	NC_000020.11:g.32436210C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1167Ala	rs1307576046	missense variant	-	NC_000020.11:g.32436211C>G	TOPMed
ASXL1	Q8IXJ9	p.Ser1168Thr	rs587778062	missense variant	-	NC_000020.11:g.32436215G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1168Arg	rs1291218446	missense variant	-	NC_000020.11:g.32436214A>C	gnomAD
ASXL1	Q8IXJ9	p.Ser1168Thr	RCV000315916	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436215G>C	ClinVar
ASXL1	Q8IXJ9	p.Ser1169Tyr	rs1212204313	missense variant	-	NC_000020.11:g.32436218C>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1172Thr	rs748986962	missense variant	-	NC_000020.11:g.32436226G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1173Ser	rs768239600	missense variant	-	NC_000020.11:g.32436230T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys1174Asn	rs747485168	missense variant	-	NC_000020.11:g.32436234G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1177Arg	rs1158866700	missense variant	-	NC_000020.11:g.32436242T>G	gnomAD
ASXL1	Q8IXJ9	p.Asp1180Gly	rs746200411	missense variant	-	NC_000020.11:g.32436251A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1180His	rs777253679	missense variant	-	NC_000020.11:g.32436250G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1180Asn	rs777253679	missense variant	-	NC_000020.11:g.32436250G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1180Glu	rs148597247	missense variant	-	NC_000020.11:g.32436252T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1183Ala	rs1160418769	missense variant	-	NC_000020.11:g.32436260A>C	TOPMed
ASXL1	Q8IXJ9	p.Thr1186Pro	rs147905623	missense variant	-	NC_000020.11:g.32436268A>C	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1187Val	rs755170442	missense variant	-	NC_000020.11:g.32436272G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1187Asp	rs755170442	missense variant	-	NC_000020.11:g.32436272G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1188Ile	rs774416906	missense variant	-	NC_000020.11:g.32436274C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1190Lys	rs779117478	missense variant	-	NC_000020.11:g.32436281G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1191Val	rs767340580	missense variant	-	NC_000020.11:g.32436283A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1191Phe	rs767340580	missense variant	-	NC_000020.11:g.32436283A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu1192Val	rs927802180	missense variant	-	NC_000020.11:g.32436287A>T	TOPMed
ASXL1	Q8IXJ9	p.Thr1194Ile	rs1266573048	missense variant	-	NC_000020.11:g.32436293C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala1196Thr	rs1339242781	missense variant	-	NC_000020.11:g.32436298G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1196Val	rs766307575	missense variant	-	NC_000020.11:g.32436299C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1197Ser	rs753491851	missense variant	-	NC_000020.11:g.32436301C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1198Arg	rs1178916301	missense variant	-	NC_000020.11:g.32436304G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1199Val	rs1275445999	missense variant	-	NC_000020.11:g.32436308C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala1199Thr	rs959073235	missense variant	-	NC_000020.11:g.32436307G>A	TOPMed
ASXL1	Q8IXJ9	p.Pro1200Leu	rs754682331	missense variant	-	NC_000020.11:g.32436311C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1201Arg	rs778774838	missense variant	-	NC_000020.11:g.32436314A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys1204Phe	rs1166225514	missense variant	-	NC_000020.11:g.32436323G>T	gnomAD
ASXL1	Q8IXJ9	p.Cys1204Trp	rs201397030	missense variant	-	NC_000020.11:g.32436324C>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys1204Trp	RCV000352132	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436324C>G	ClinVar
ASXL1	Q8IXJ9	p.Ala1206Thr	rs757978318	missense variant	-	NC_000020.11:g.32436328G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1208Leu	rs746422436	missense variant	-	NC_000020.11:g.32436335C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1212Phe	RCV000171346	missense variant	-	NC_000020.11:g.32436347C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1212Phe	rs542568224	missense variant	-	NC_000020.11:g.32436347C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1213Ter	RCV000779755	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32436349del	ClinVar
ASXL1	Q8IXJ9	p.Leu1213Ter	RCV000627531	frameshift	-	NC_000020.11:g.32436345_32436348CTCC[1]	ClinVar
ASXL1	Q8IXJ9	p.His1214Gln	rs1225413009	missense variant	-	NC_000020.11:g.32436354T>A	TOPMed
ASXL1	Q8IXJ9	p.Val1216Leu	rs200817247	missense variant	-	NC_000020.11:g.32436358G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1219Ser	rs774688930	missense variant	-	NC_000020.11:g.32436367C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1220Phe	rs761774988	missense variant	-	NC_000020.11:g.32436370A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1221Lys	rs545612479	missense variant	-	NC_000020.11:g.32436374C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1221Lys	RCV000120098	missense variant	-	NC_000020.11:g.32436374C>A	ClinVar
ASXL1	Q8IXJ9	p.Ser1222Ala	rs760710389	missense variant	-	NC_000020.11:g.32436376T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1223Phe	rs1256319244	missense variant	-	NC_000020.11:g.32436380C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1224Thr	rs543240313	missense variant	-	NC_000020.11:g.32436383G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1225Asn	rs753682901	missense variant	-	NC_000020.11:g.32436387A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1226Arg	rs564721149	missense variant	-	NC_000020.11:g.32436389T>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1226Gln	rs564721149	missense variant	-	NC_000020.11:g.32436389T>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1227Lys	rs752436984	missense variant	-	NC_000020.11:g.32436391G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1230His	rs150977407	missense variant	-	NC_000020.11:g.32436400G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1230Tyr	rs150977407	missense variant	-	NC_000020.11:g.32436400G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1230Asn	rs150977407	missense variant	-	NC_000020.11:g.32436400G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1231Phe	RCV000120099	missense variant	-	NC_000020.11:g.32436404C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1231Phe	RCV000295106	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436404C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1231Phe	rs74638057	missense variant	-	NC_000020.11:g.32436404C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1233Gly	rs1303628314	missense variant	-	NC_000020.11:g.32436410A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1234Ter	RCV000679929	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436412C>T	ClinVar
ASXL1	Q8IXJ9	p.Phe1235Val	rs1280682119	missense variant	-	NC_000020.11:g.32436415T>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1236Ala	rs780599775	missense variant	-	NC_000020.11:g.32436418T>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1237Phe	rs749636650	missense variant	-	NC_000020.11:g.32436422C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1237Pro	rs1182744697	missense variant	-	NC_000020.11:g.32436421T>C	TOPMed
ASXL1	Q8IXJ9	p.Phe1238Cys	rs769054940	missense variant	-	NC_000020.11:g.32436425T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys1240Arg	rs778970085	missense variant	-	NC_000020.11:g.32436430T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu1241Lys	rs372409311	missense variant	-	NC_000020.11:g.32436433G>A	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1244Glu	rs771995556	missense variant	-	NC_000020.11:g.32436442A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1247Ser	rs146747814	missense variant	-	NC_000020.11:g.32436451C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1247Cys	rs146747814	missense variant	-	NC_000020.11:g.32436451C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1247His	rs760905906	missense variant	-	NC_000020.11:g.32436452G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1249Val	RCV000345347	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436457A>G	ClinVar
ASXL1	Q8IXJ9	p.Met1249Val	rs146141075	missense variant	-	NC_000020.11:g.32436457A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1249Thr	rs776760001	missense variant	-	NC_000020.11:g.32436458T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1251Arg	rs1177102722	missense variant	-	NC_000020.11:g.32436464A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1251Ter	RCV000578410	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436466_32436470del	ClinVar
ASXL1	Q8IXJ9	p.Asp1252Gly	rs202102305	missense variant	-	NC_000020.11:g.32436467A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1252Asn	rs183833909	missense variant	-	NC_000020.11:g.32436466G>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1253Arg	rs4911231	missense variant	-	NC_000020.11:g.32436471T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1253Gly	rs1299065255	missense variant	-	NC_000020.11:g.32436469A>G	gnomAD
ASXL1	Q8IXJ9	p.Asn1254Ser	rs587778059	missense variant	-	NC_000020.11:g.32436473A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1254Ser	RCV000120094	missense variant	-	NC_000020.11:g.32436473A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn1256Ile	rs763441935	missense variant	-	NC_000020.11:g.32436479A>T	ExAC
ASXL1	Q8IXJ9	p.Ala1257Val	rs1274163222	missense variant	-	NC_000020.11:g.32436482C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1258Ser	rs1015611473	missense variant	-	NC_000020.11:g.32436484G>T	TOPMed
ASXL1	Q8IXJ9	p.Ala1258Val	rs971677757	missense variant	-	NC_000020.11:g.32436485C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro1259Leu	rs201338763	missense variant	-	NC_000020.11:g.32436488C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1259Leu	RCV000310306	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436488C>T	ClinVar
ASXL1	Q8IXJ9	p.Lys1261Arg	rs780513703	missense variant	-	NC_000020.11:g.32436494A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1262Arg	rs754382000	missense variant	-	NC_000020.11:g.32436498C>G	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Gly1264Arg	rs368407827	missense variant	-	NC_000020.11:g.32436502G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1265Tyr	rs200527840	missense variant	-	NC_000020.11:g.32436505G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1266Val	rs772335046	missense variant	-	NC_000020.11:g.32436508C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1267Asn	rs368889231	missense variant	-	NC_000020.11:g.32436512C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1267Asn	RCV000224799	missense variant	-	NC_000020.11:g.32436512C>A	ClinVar
ASXL1	Q8IXJ9	p.Ser1269Leu	rs747065583	missense variant	-	NC_000020.11:g.32436518C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1270Gly	rs776674404	missense variant	-	NC_000020.11:g.32436520A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1271Ala	rs759571048	missense variant	-	NC_000020.11:g.32436523A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1272Ser	rs542860516	missense variant	-	NC_000020.11:g.32436526C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1272Ala	rs542860516	missense variant	-	NC_000020.11:g.32436526C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1272Thr	rs542860516	missense variant	-	NC_000020.11:g.32436526C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1272His	rs775363893	missense variant	-	NC_000020.11:g.32436527C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1273Cys	rs587778060	missense variant	-	NC_000020.11:g.32436529C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1273His	rs762720533	missense variant	-	NC_000020.11:g.32436530G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1273Cys	RCV000120100	missense variant	-	NC_000020.11:g.32436529C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1276Phe	rs763784731	missense variant	-	NC_000020.11:g.32436539C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile1280Thr	rs1327515633	missense variant	-	NC_000020.11:g.32436551T>C	TOPMed
ASXL1	Q8IXJ9	p.Gly1283Ser	rs751259103	missense variant	-	NC_000020.11:g.32436559G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1284Ala	rs761279083	missense variant	-	NC_000020.11:g.32436562C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1286Arg	rs1227209031	missense variant	-	NC_000020.11:g.32436569A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly1288Asp	rs1396654725	missense variant	-	NC_000020.11:g.32436575G>A	TOPMed
ASXL1	Q8IXJ9	p.Arg1289Trp	rs201302084	missense variant	-	NC_000020.11:g.32436577C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1289Gln	rs755522655	missense variant	-	NC_000020.11:g.32436578G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1290Val	rs779080154	missense variant	-	NC_000020.11:g.32436581C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1292Val	rs1237413045	missense variant	-	NC_000020.11:g.32436587G>T	gnomAD
ASXL1	Q8IXJ9	p.Ser1295Asn	rs1180789984	missense variant	-	NC_000020.11:g.32436596G>A	gnomAD
ASXL1	Q8IXJ9	p.Asn1296Lys	rs753093028	missense variant	-	NC_000020.11:g.32436600T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1297Ile	rs140137262	missense variant	-	NC_000020.11:g.32436601G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1297Ile	RCV000120110	missense variant	-	NC_000020.11:g.32436601G>A	ClinVar
ASXL1	Q8IXJ9	p.Thr1298Ile	rs778027986	missense variant	-	NC_000020.11:g.32436605C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1299Asp	rs1416591993	missense variant	-	NC_000020.11:g.32436608G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln1300Ter	RCV000414513	frameshift	-	NC_000020.11:g.32436606_32436609dup	ClinVar
ASXL1	Q8IXJ9	p.Leu1304Val	RCV000514197	missense variant	-	NC_000020.11:g.32436622C>G	ClinVar
ASXL1	Q8IXJ9	p.Leu1304Ile	rs747267907	missense variant	-	NC_000020.11:g.32436622C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1304Val	rs747267907	missense variant	-	NC_000020.11:g.32436622C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Phe1305Ser	rs745736272	missense variant	-	NC_000020.11:g.32436626T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Phe1305Tyr	rs745736272	missense variant	-	NC_000020.11:g.32436626T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Phe1305Tyr	RCV000364864	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436626T>A	ClinVar
ASXL1	Q8IXJ9	p.Gly1306Val	rs769761920	missense variant	-	NC_000020.11:g.32436629G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1306Asp	rs769761920	missense variant	-	NC_000020.11:g.32436629G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1308Glu	rs1294298793	missense variant	-	NC_000020.11:g.32436635G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala1312Val	rs148144203	missense variant	-	NC_000020.11:g.32436647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1312Val	RCV000397788	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436647C>T	ClinVar
ASXL1	Q8IXJ9	p.Leu1314Phe	rs376070210	missense variant	-	NC_000020.11:g.32436652C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1316His	rs369419785	missense variant	-	NC_000020.11:g.32436659G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1316Leu	rs369419785	missense variant	-	NC_000020.11:g.32436659G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1316Cys	rs773951405	missense variant	-	NC_000020.11:g.32436658C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1318Trp	rs373632896	missense variant	-	NC_000020.11:g.32436664A>T	ESP,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Ala1320Val	rs760162421	missense variant	-	NC_000020.11:g.32436671C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1322Leu	rs141930107	missense variant	-	NC_000020.11:g.32436677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1322Arg	rs141930107	missense variant	-	NC_000020.11:g.32436677C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1322Arg	RCV000301881	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436677C>G	ClinVar
ASXL1	Q8IXJ9	p.Met1323Val	rs1399861829	missense variant	-	NC_000020.11:g.32436679A>G	TOPMed
ASXL1	Q8IXJ9	p.Leu1325Phe	rs6057581	missense variant	-	NC_000020.11:g.32436685C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1325Phe	RCV000361233	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436685C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro1326Arg	rs757562094	missense variant	-	NC_000020.11:g.32436689C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1326Leu	rs757562094	missense variant	-	NC_000020.11:g.32436689C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1329Phe	rs1193631121	missense variant	-	NC_000020.11:g.32436697A>T	gnomAD
ASXL1	Q8IXJ9	p.Pro1330Leu	rs201002256	missense variant	-	NC_000020.11:g.32436701C>T	1000Genomes,ExAC
ASXL1	Q8IXJ9	p.Pro1330Ser	rs1470476757	missense variant	-	NC_000020.11:g.32436700C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1334Arg	rs1171765386	missense variant	-	NC_000020.11:g.32436713C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1335Asn	rs749211532	missense variant	-	NC_000020.11:g.32436716G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1339Arg	rs768446568	missense variant	-	NC_000020.11:g.32436727G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1339Glu	rs370510519	missense variant	-	NC_000020.11:g.32436728G>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1340Thr	rs375493039	missense variant	-	NC_000020.11:g.32436730C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1340Leu	rs1277513406	missense variant	-	NC_000020.11:g.32436731C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser1341Asn	rs772901230	missense variant	-	NC_000020.11:g.32436734G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1341Arg	rs771708439	missense variant	-	NC_000020.11:g.32436733A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1345Leu	rs377173817	missense variant	-	NC_000020.11:g.32436745A>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1345Thr	rs1217736138	missense variant	-	NC_000020.11:g.32436746T>C	gnomAD
ASXL1	Q8IXJ9	p.Met1345Arg	rs1217736138	missense variant	-	NC_000020.11:g.32436746T>G	gnomAD
ASXL1	Q8IXJ9	p.Met1345Val	rs377173817	missense variant	-	NC_000020.11:g.32436745A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1347Ser	rs1282636106	missense variant	-	NC_000020.11:g.32436751G>A	TOPMed
ASXL1	Q8IXJ9	p.Gly1347Asp	rs776017976	missense variant	-	NC_000020.11:g.32436752G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1348Glu	rs1215926778	missense variant	-	NC_000020.11:g.32436755G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly1348Arg	rs1235681276	missense variant	-	NC_000020.11:g.32436754G>A	gnomAD
ASXL1	Q8IXJ9	p.Val1349Ile	rs1261675179	missense variant	-	NC_000020.11:g.32436757G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln1350Arg	rs764491073	missense variant	-	NC_000020.11:g.32436761A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln1350Ter	rs763386297	stop gained	-	NC_000020.11:g.32436760C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1350His	rs1254556412	missense variant	-	NC_000020.11:g.32436762G>T	gnomAD
ASXL1	Q8IXJ9	p.Thr1351Ala	rs957498028	missense variant	-	NC_000020.11:g.32436763A>G	gnomAD
ASXL1	Q8IXJ9	p.Thr1351Pro	rs957498028	missense variant	-	NC_000020.11:g.32436763A>C	gnomAD
ASXL1	Q8IXJ9	p.Pro1352Thr	rs1477232064	missense variant	-	NC_000020.11:g.32436766C>A	gnomAD
ASXL1	Q8IXJ9	p.Glu1354Ter	RCV000779754	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436772G>T	ClinVar
ASXL1	Q8IXJ9	p.Asp1355Tyr	rs897163423	missense variant	-	NC_000020.11:g.32436775G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1355Gly	rs751971997	missense variant	-	NC_000020.11:g.32436776A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1355His	rs897163423	missense variant	-	NC_000020.11:g.32436775G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1357Pro	rs1296966469	missense variant	-	NC_000020.11:g.32436781G>C	gnomAD
ASXL1	Q8IXJ9	p.Ala1357Val	rs1221149032	missense variant	-	NC_000020.11:g.32436782C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1358Arg	rs1342576866	missense variant	-	NC_000020.11:g.32436785C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1358Ala	rs554525759	missense variant	-	NC_000020.11:g.32436784C>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1360Leu	rs750648431	missense variant	-	NC_000020.11:g.32436791C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1360Ser	rs1318861266	missense variant	-	NC_000020.11:g.32436790C>T	gnomAD
ASXL1	Q8IXJ9	p.His1361Leu	rs1276856584	missense variant	-	NC_000020.11:g.32436794A>T	gnomAD
ASXL1	Q8IXJ9	p.His1361Tyr	rs756177197	missense variant	-	NC_000020.11:g.32436793C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.His1361Arg	rs1276856584	missense variant	-	NC_000020.11:g.32436794A>G	gnomAD
ASXL1	Q8IXJ9	p.Val1364Leu	rs1348803364	missense variant	-	NC_000020.11:g.32436802G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1365Ser	rs1239527829	missense variant	-	NC_000020.11:g.32436805G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser1366Gly	rs1355933920	missense variant	-	NC_000020.11:g.32436808A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1366Thr	rs1218050808	missense variant	-	NC_000020.11:g.32436809G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1367Ile	rs147456014	missense variant	-	NC_000020.11:g.32436811G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1367Ile	RCV000317182	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436811G>A	ClinVar
ASXL1	Q8IXJ9	p.Lys1371Arg	rs747916498	missense variant	-	NC_000020.11:g.32436824A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1372Ser	rs201989261	missense variant	-	NC_000020.11:g.32436827C>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1372Ala	rs1157660270	missense variant	-	NC_000020.11:g.32436826A>G	gnomAD
ASXL1	Q8IXJ9	p.Phe1373Ser	rs777366376	missense variant	-	NC_000020.11:g.32436830T>C	ExAC
ASXL1	Q8IXJ9	p.Val1374Met	rs1174240695	missense variant	-	NC_000020.11:g.32436832G>A	TOPMed
ASXL1	Q8IXJ9	p.Gly1375Trp	rs191965193	missense variant	-	NC_000020.11:g.32436835G>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1376Cys	rs1384877310	missense variant	-	NC_000020.11:g.32436838G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly1376Val	rs759156029	missense variant	-	NC_000020.11:g.32436839G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1376Asp	rs759156029	missense variant	-	NC_000020.11:g.32436839G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1377Leu	rs1371456909	missense variant	-	NC_000020.11:g.32436842C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1377Ter	RCV000622437	frameshift	Inborn genetic diseases	NC_000020.11:g.32436839dup	ClinVar
ASXL1	Q8IXJ9	p.Ala1380Gly	rs139319958	missense variant	-	NC_000020.11:g.32436851C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1382Thr	rs1195761913	missense variant	-	NC_000020.11:g.32436856G>A	TOPMed
ASXL1	Q8IXJ9	p.Glu1383Asp	rs1288855568	missense variant	-	NC_000020.11:g.32436861G>C	gnomAD
ASXL1	Q8IXJ9	p.Glu1383Lys	rs143770363	missense variant	-	NC_000020.11:g.32436859G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1384Asp	rs768021025	missense variant	-	NC_000020.11:g.32436862A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1385Lys	rs760817964	missense variant	-	NC_000020.11:g.32436866G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1385Gly	rs750607342	missense variant	-	NC_000020.11:g.32436865A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1389Glu	rs1457578532	missense variant	-	NC_000020.11:g.32436878G>A	gnomAD
ASXL1	Q8IXJ9	p.His1390Tyr	rs761239386	missense variant	-	NC_000020.11:g.32436880C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1391Arg	rs778791558	missense variant	-	NC_000020.11:g.32436885T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1392Ser	rs368624471	missense variant	-	NC_000020.11:g.32436886C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1392Ala	rs368624471	missense variant	-	NC_000020.11:g.32436886C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1394Val	rs1456392521	missense variant	-	NC_000020.11:g.32436893A>T	gnomAD
ASXL1	Q8IXJ9	p.Leu1395Val	rs150004862	missense variant	-	NC_000020.11:g.32436895C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1396Leu	rs770488855	missense variant	-	NC_000020.11:g.32436898G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Ser	rs146464648	missense variant	-	NC_000020.11:g.32436901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Asp	rs745344384	missense variant	-	NC_000020.11:g.32436902G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Ser	RCV000353069	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436901G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly1397Ala	rs745344384	missense variant	-	NC_000020.11:g.32436902G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His1398Arg	rs1392041036	missense variant	-	NC_000020.11:g.32436905A>G	gnomAD
ASXL1	Q8IXJ9	p.His1398Asp	rs1381834100	missense variant	-	NC_000020.11:g.32436904C>G	TOPMed
ASXL1	Q8IXJ9	p.Leu1399Phe	rs1454543776	missense variant	-	NC_000020.11:g.32436909G>C	TOPMed
ASXL1	Q8IXJ9	p.Glu1400Ter	RCV000523176	nonsense	-	NC_000020.11:g.32436910G>T	ClinVar
ASXL1	Q8IXJ9	p.Glu1400Ter	rs1555912930	stop gained	-	NC_000020.11:g.32436910G>T	-
ASXL1	Q8IXJ9	p.Gly1401Arg	rs774955684	missense variant	-	NC_000020.11:g.32436913G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1402Val	rs1247685297	missense variant	-	NC_000020.11:g.32436916A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1402Ile	rs772505693	missense variant	-	NC_000020.11:g.32436918G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1402Leu	rs1247685297	missense variant	-	NC_000020.11:g.32436916A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1402Lys	rs762429584	missense variant	-	NC_000020.11:g.32436917T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1403Ser	rs148670852	missense variant	-	NC_000020.11:g.32436919C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1403Leu	rs1255779893	missense variant	-	NC_000020.11:g.32436920C>T	gnomAD
ASXL1	Q8IXJ9	p.Met1406Leu	rs1481373919	missense variant	-	NC_000020.11:g.32436928A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1408Val	rs1196015590	missense variant	-	NC_000020.11:g.32436934T>G	gnomAD
ASXL1	Q8IXJ9	p.Trp1411Ter	rs1189588116	stop gained	-	NC_000020.11:g.32436945G>A	gnomAD
ASXL1	Q8IXJ9	p.Lys1412Ter	rs1418437557	stop gained	-	NC_000020.11:g.32436946A>T	gnomAD
ASXL1	Q8IXJ9	p.Lys1412Glu	rs1418437557	missense variant	-	NC_000020.11:g.32436946A>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1414Thr	rs375106070	missense variant	-	NC_000020.11:g.32436952C>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1414Ser	rs375106070	missense variant	-	NC_000020.11:g.32436952C>T	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Ter	rs754129466	stop gained	-	NC_000020.11:g.32436955C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Gln	rs143328954	missense variant	-	NC_000020.11:g.32436956G>A	ESP,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Ter	RCV000623910	nonsense	Inborn genetic diseases	NC_000020.11:g.32436955C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg1415Ter	RCV000578978	nonsense	-	NC_000020.11:g.32436955C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg1415Gly	rs754129466	missense variant	-	NC_000020.11:g.32436955C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1416Gly	rs146759903	missense variant	-	NC_000020.11:g.32436959A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1418Trp	rs1302458782	missense variant	-	NC_000020.11:g.32436964G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly1418Glu	rs1400206227	missense variant	-	NC_000020.11:g.32436965G>A	gnomAD
ASXL1	Q8IXJ9	p.Lys1419Arg	rs1182239186	missense variant	-	NC_000020.11:g.32436968A>G	TOPMed
ASXL1	Q8IXJ9	p.Gly1420Ala	rs140396659	missense variant	-	NC_000020.11:g.32436971G>C	ESP
ASXL1	Q8IXJ9	p.Ser1422Asn	rs752574445	missense variant	-	NC_000020.11:g.32436977G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1424Leu	rs563685779	missense variant	-	NC_000020.11:g.32436983C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1425Gln	rs1280568526	missense variant	-	NC_000020.11:g.32436986T>A	gnomAD
ASXL1	Q8IXJ9	p.Leu1425Val	rs1268535205	missense variant	-	NC_000020.11:g.32436985C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1427Ser	rs764162507	missense variant	-	NC_000020.11:g.32436991C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1428Pro	rs150925693	missense variant	-	NC_000020.11:g.32436994T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1429Phe	rs1212344694	missense variant	-	NC_000020.11:g.32436998C>T	gnomAD
ASXL1	Q8IXJ9	p.Leu1434Phe	rs755633691	missense variant	-	NC_000020.11:g.32437012C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1436Val	rs779722479	missense variant	-	NC_000020.11:g.32437018A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1436Met	rs748596785	missense variant	-	NC_000020.11:g.32437020C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile1436Phe	rs779722479	missense variant	-	NC_000020.11:g.32437018A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1438Ter	RCV000598608	nonsense	-	NC_000020.11:g.32437024C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln1438Ter	rs1555912974	stop gained	-	NC_000020.11:g.32437024C>T	-
ASXL1	Q8IXJ9	p.Lys1446Glu	rs1313492286	missense variant	-	NC_000020.11:g.32437048A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1448Arg	rs772452614	missense variant	-	NC_000020.11:g.32437055A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1450Cys	rs1248006647	missense variant	-	NC_000020.11:g.32437060A>T	TOPMed
ASXL1	Q8IXJ9	p.Ser1453Arg	rs1363144805	missense variant	-	NC_000020.11:g.32437071C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1453Thr	rs369323188	missense variant	-	NC_000020.11:g.32437070G>C	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Phe1454Cys	rs1260140152	missense variant	-	NC_000020.11:g.32437073T>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1455Tyr	rs1300193320	missense variant	-	NC_000020.11:g.32437075A>T	gnomAD
ASXL1	Q8IXJ9	p.Tyr1456His	rs1297604770	missense variant	-	NC_000020.11:g.32437078T>C	TOPMed
ASXL1	Q8IXJ9	p.Ser1459Gly	rs1488502891	missense variant	-	NC_000020.11:g.32437087A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1459Asn	rs776785621	missense variant	-	NC_000020.11:g.32437088G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1460Phe	rs759768826	missense variant	-	NC_000020.11:g.32437091C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1460Ala	rs1280491013	missense variant	-	NC_000020.11:g.32437090T>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1461Leu	rs765236014	missense variant	-	NC_000020.11:g.32437094C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1461Ser	rs1214409436	missense variant	-	NC_000020.11:g.32437093C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1461Ala	rs1214409436	missense variant	-	NC_000020.11:g.32437093C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1462Asn	rs1264766060	missense variant	-	NC_000020.11:g.32437097C>A	gnomAD
ASXL1	Q8IXJ9	p.Gly1466Asp	rs1037113561	missense variant	-	NC_000020.11:g.32437109G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1466Ser	rs763081912	missense variant	-	NC_000020.11:g.32437108G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1468Gly	rs763919568	missense variant	-	NC_000020.11:g.32437115C>G	ExAC
ASXL1	Q8IXJ9	p.Ser1470Asn	rs1426000456	missense variant	-	NC_000020.11:g.32437121G>A	TOPMed
ASXL1	Q8IXJ9	p.Val1471Met	rs779516123	missense variant	-	NC_000020.11:g.32437123G>A	-
ASXL1	Q8IXJ9	p.Val1472Met	rs756958250	missense variant	-	NC_000020.11:g.32437126G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1473Arg	rs767364451	missense variant	-	NC_000020.11:g.32437130A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1474Pro	RCV000424358	missense variant	-	NC_000020.11:g.32437133T>C	ClinVar
ASXL1	Q8IXJ9	p.Leu1474Pro	rs1057522762	missense variant	-	NC_000020.11:g.32437133T>C	-
ASXL1	Q8IXJ9	p.Asn1479Asp	rs1417907059	missense variant	-	NC_000020.11:g.32437147A>G	gnomAD
ASXL1	Q8IXJ9	p.Phe1480Cys	rs1479344658	missense variant	-	NC_000020.11:g.32437151T>G	TOPMed
ASXL1	Q8IXJ9	p.Gly1481Ser	rs755830073	missense variant	-	NC_000020.11:g.32437153G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1481Asp	rs1457731507	missense variant	-	NC_000020.11:g.32437154G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1482Val	rs779918659	missense variant	-	NC_000020.11:g.32437157C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1482Thr	rs1292214111	missense variant	-	NC_000020.11:g.32437156G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser1485Gly	rs1237260890	missense variant	-	NC_000020.11:g.32437165A>G	gnomAD
ASXL1	Q8IXJ9	p.Leu1488Ile	rs771144822	missense variant	-	NC_000020.11:g.32437174C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1489Thr	rs776986293	missense variant	-	NC_000020.11:g.32437177T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1489Pro	rs776986293	missense variant	-	NC_000020.11:g.32437177T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1489Cys	rs1205345035	missense variant	-	NC_000020.11:g.32437178C>G	TOPMed
ASXL1	Q8IXJ9	p.Leu1490Ser	rs1237757749	missense variant	-	NC_000020.11:g.32437181T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1490Met	rs1194548712	missense variant	-	NC_000020.11:g.32437180T>A	gnomAD
ASXL1	Q8IXJ9	p.Leu1490Phe	rs140896392	missense variant	-	NC_000020.11:g.32437182G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln1491Arg	rs985114051	missense variant	-	NC_000020.11:g.32437184A>G	gnomAD
ASXL1	Q8IXJ9	p.Met1492Thr	rs1405352304	missense variant	-	NC_000020.11:g.32437187T>C	gnomAD
ASXL1	Q8IXJ9	p.Thr1498Met	RCV000262828	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32437205C>T	ClinVar
ASXL1	Q8IXJ9	p.Thr1498Ala	rs762915264	missense variant	-	NC_000020.11:g.32437204A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1498Met	rs150119795	missense variant	-	NC_000020.11:g.32437205C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1499Met	rs761827265	missense variant	-	NC_000020.11:g.32437207G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1499Ala	rs1410601864	missense variant	-	NC_000020.11:g.32437208T>C	TOPMed
ASXL1	Q8IXJ9	p.Glu1500Gln	rs1443938586	missense variant	-	NC_000020.11:g.32437210G>C	gnomAD
ASXL1	Q8IXJ9	p.Leu1504Phe	rs1301572138	missense variant	-	NC_000020.11:g.32437222C>T	TOPMed
ASXL1	Q8IXJ9	p.Ala1507Val	rs375101983	missense variant	-	NC_000020.11:g.32437232C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1509Asn	rs753585837	missense variant	-	NC_000020.11:g.32437238G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1513Leu	rs778498255	missense variant	-	NC_000020.11:g.32437249A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1515Thr	rs1479862599	missense variant	-	NC_000020.11:g.32437256T>C	TOPMed
ASXL1	Q8IXJ9	p.Met1515Val	rs142546929	missense variant	-	NC_000020.11:g.32437255A>G	ESP,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Cys1516Arg	rs1266285643	missense variant	-	NC_000020.11:g.32437258T>C	TOPMed
ASXL1	Q8IXJ9	p.Gln1517Pro	rs781704918	missense variant	-	NC_000020.11:g.32437262A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1517Arg	rs781704918	missense variant	-	NC_000020.11:g.32437262A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1520Ser	rs146743741	missense variant	-	NC_000020.11:g.32437270G>A	ESP,gnomAD
ASXL1	Q8IXJ9	p.Gly1520Arg	rs146743741	missense variant	-	NC_000020.11:g.32437270G>C	ESP,gnomAD
ASXL1	Q8IXJ9	p.His1524Tyr	rs149678774	missense variant	-	NC_000020.11:g.32437282C>T	1000Genomes
ASXL1	Q8IXJ9	p.Asp1525Asn	rs139397200	missense variant	-	NC_000020.11:g.32437285G>A	ESP,gnomAD
ASXL1	Q8IXJ9	p.Cys1527Ser	rs768565271	missense variant	-	NC_000020.11:g.32437292G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1529Val	rs774496581	missense variant	-	NC_000020.11:g.32437298G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1535Ile	RCV000317983	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32437315G>A	ClinVar
ASXL1	Q8IXJ9	p.Val1535Ile	rs886056603	missense variant	-	NC_000020.11:g.32437315G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1538Phe	rs1229055519	missense variant	-	NC_000020.11:g.32437324C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg1541Lys	rs1221897744	missense variant	-	NC_000020.11:g.32437334G>A	gnomAD
ASXL1	Q8IXJ9	p.Asp3Asn	rs1362206875	missense variant	-	NC_000020.11:g.32358782G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln5Arg	rs1254502448	missense variant	-	NC_000020.11:g.32358789A>G	TOPMed
ASXL1	Q8IXJ9	p.Lys9Arg	rs886129274	missense variant	-	NC_000020.11:g.32358801A>G	TOPMed
ASXL1	Q8IXJ9	p.Lys9Glu	rs1292736851	missense variant	-	NC_000020.11:g.32358800A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala14Val	rs1365687375	missense variant	-	NC_000020.11:g.32358816C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu15Lys	rs1464069229	missense variant	-	NC_000020.11:g.32358818G>A	TOPMed
ASXL1	Q8IXJ9	p.Arg18Ser	rs1302023145	missense variant	-	NC_000020.11:g.32358827C>A	gnomAD
ASXL1	Q8IXJ9	p.Glu22Gly	rs775831641	missense variant	-	NC_000020.11:g.32366391A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser25Leu	rs1219695894	missense variant	-	NC_000020.11:g.32366400C>T	gnomAD
ASXL1	Q8IXJ9	p.Met29Val	rs769223128	missense variant	-	NC_000020.11:g.32366411A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met29Leu	rs769223128	missense variant	-	NC_000020.11:g.32366411A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr30Ala	rs1378562189	missense variant	-	NC_000020.11:g.32366414A>G	TOPMed
ASXL1	Q8IXJ9	p.Pro31Ser	rs1178102908	missense variant	-	NC_000020.11:g.32366417C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln33Glu	rs1192808397	missense variant	-	NC_000020.11:g.32366423C>G	TOPMed
ASXL1	Q8IXJ9	p.Val37Ile	rs1378944067	missense variant	-	NC_000020.11:g.32366435G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu39Ter	RCV000481449	frameshift	-	NC_000020.11:g.32366440dup	ClinVar
ASXL1	Q8IXJ9	p.Ala40Val	rs774677279	missense variant	-	NC_000020.11:g.32366445C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu45Gln	rs143594461	missense variant	-	NC_000020.11:g.32366459G>C	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met46Ile	rs772252001	missense variant	-	NC_000020.11:g.32366464G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met46Val	rs1404369258	missense variant	-	NC_000020.11:g.32366462A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly49Glu	rs1355901469	missense variant	-	NC_000020.11:g.32369017G>A	gnomAD
ASXL1	Q8IXJ9	p.Thr50Ala	rs763956931	missense variant	-	NC_000020.11:g.32369019A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser51Tyr	rs1276613425	missense variant	-	NC_000020.11:g.32369023C>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro52Ala	rs1190203873	missense variant	-	NC_000020.11:g.32369025C>G	gnomAD
ASXL1	Q8IXJ9	p.Ala54Ser	rs867857427	missense variant	-	NC_000020.11:g.32369031G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala54Thr	rs867857427	missense variant	-	NC_000020.11:g.32369031G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu56Val	rs1426548051	missense variant	-	NC_000020.11:g.32369037C>G	TOPMed
ASXL1	Q8IXJ9	p.Asn57Ser	rs147225073	missense variant	-	NC_000020.11:g.32369041A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu68Gly	rs1214819445	missense variant	-	NC_000020.11:g.32369074A>G	TOPMed
ASXL1	Q8IXJ9	p.Leu70Trp	rs1376615013	missense variant	-	NC_000020.11:g.32369080T>G	gnomAD
ASXL1	Q8IXJ9	p.Tyr72Cys	rs778374087	missense variant	-	NC_000020.11:g.32369086A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys73Ter	RCV000578382	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32369088A>T	ClinVar
ASXL1	Q8IXJ9	p.Lys73Ter	rs1555901138	stop gained	-	NC_000020.11:g.32369088A>T	-
ASXL1	Q8IXJ9	p.Arg77Ter	rs1375830737	stop gained	-	NC_000020.11:g.32369100C>T	gnomAD
ASXL1	Q8IXJ9	p.Ile78Val	rs747116564	missense variant	-	NC_000020.11:g.32369103A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser79Asn	rs1296130945	missense variant	-	NC_000020.11:g.32369107G>A	gnomAD
ASXL1	Q8IXJ9	p.Leu80Arg	rs1364292412	missense variant	-	NC_000020.11:g.32369110T>G	gnomAD
ASXL1	Q8IXJ9	p.Phe81Ser	rs543111241	missense variant	-	NC_000020.11:g.32369113T>C	1000Genomes,ExAC
ASXL1	Q8IXJ9	p.Thr82Ala	rs746065571	missense variant	-	NC_000020.11:g.32369115A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr82Met	rs769697612	missense variant	-	NC_000020.11:g.32369116C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu83Val	rs1237126623	missense variant	-	NC_000020.11:g.32369118C>G	gnomAD
ASXL1	Q8IXJ9	p.Lys84Gln	rs1285219133	missense variant	-	NC_000020.11:g.32369121A>C	TOPMed
ASXL1	Q8IXJ9	p.Lys84Arg	rs762682866	missense variant	-	NC_000020.11:g.32369122A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys85Arg	rs758884216	missense variant	-	NC_000020.11:g.32428129A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala87Ser	rs764542386	missense variant	-	NC_000020.11:g.32428134G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln89Lys	rs752178487	missense variant	-	NC_000020.11:g.32428140C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln89Arg	rs201743181	missense variant	-	NC_000020.11:g.32428141A>G	gnomAD
ASXL1	Q8IXJ9	p.Arg92His	rs745960978	missense variant	-	NC_000020.11:g.32428150G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg92Cys	rs781684559	missense variant	-	NC_000020.11:g.32428149C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr96Ala	rs756181482	missense variant	-	NC_000020.11:g.32428161A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val97Ala	rs1363691379	missense variant	-	NC_000020.11:g.32428165T>C	gnomAD
ASXL1	Q8IXJ9	p.Glu103Asp	rs780298865	missense variant	-	NC_000020.11:g.32428184G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr105Met	rs749495615	missense variant	-	NC_000020.11:g.32428189C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala106Thr	rs1460731601	missense variant	-	NC_000020.11:g.32428191G>A	TOPMed
ASXL1	Q8IXJ9	p.Val108Met	rs1375139737	missense variant	-	NC_000020.11:g.32428197G>A	TOPMed
ASXL1	Q8IXJ9	p.Ser110Asn	rs1209393404	missense variant	-	NC_000020.11:g.32428204G>A	gnomAD
ASXL1	Q8IXJ9	p.Cys111Tyr	rs987968539	missense variant	-	NC_000020.11:g.32428207G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly112Glu	rs1486567989	missense variant	-	NC_000020.11:g.32428210G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser113Phe	rs1188392212	missense variant	-	NC_000020.11:g.32428213C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu115Lys	rs1262669969	missense variant	-	NC_000020.11:g.32428218G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala116Thr	rs1474560744	missense variant	-	NC_000020.11:g.32428221G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser117Arg	rs1188313924	missense variant	-	NC_000020.11:g.32428224A>C	gnomAD
ASXL1	Q8IXJ9	p.Thr118Ser	rs778679424	missense variant	-	NC_000020.11:g.32428228C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val119Gly	rs1174650406	missense variant	-	NC_000020.11:g.32428231T>G	gnomAD
ASXL1	Q8IXJ9	p.Val119Met	rs1414383610	missense variant	-	NC_000020.11:g.32428230G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val119Leu	rs1414383610	missense variant	-	NC_000020.11:g.32428230G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn123Ser	rs913768599	missense variant	-	NC_000020.11:g.32428243A>G	TOPMed
ASXL1	Q8IXJ9	p.Asp124Asn	rs771925643	missense variant	-	NC_000020.11:g.32428245G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp128His	rs1247216500	missense variant	-	NC_000020.11:g.32428333G>C	gnomAD
ASXL1	Q8IXJ9	p.Thr130Ile	rs1454605216	missense variant	-	NC_000020.11:g.32428340C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser132Leu	rs370054224	missense variant	-	NC_000020.11:g.32428346C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser132Pro	rs779057252	missense variant	-	NC_000020.11:g.32428345T>C	ExAC
ASXL1	Q8IXJ9	p.Ala134Thr	rs777619874	missense variant	-	NC_000020.11:g.32428351G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser135Ala	rs1308232911	missense variant	-	NC_000020.11:g.32428354T>G	gnomAD
ASXL1	Q8IXJ9	p.Ser135Cys	rs746954131	missense variant	-	NC_000020.11:g.32428355C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser135Pro	rs1308232911	missense variant	-	NC_000020.11:g.32428354T>C	gnomAD
ASXL1	Q8IXJ9	p.Ser137Phe	rs1285138418	missense variant	-	NC_000020.11:g.32428361C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser137Cys	rs1285138418	missense variant	-	NC_000020.11:g.32428361C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln141Glu	rs1451270158	missense variant	-	NC_000020.11:g.32428372C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser142Gly	rs776287321	missense variant	-	NC_000020.11:g.32428375A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser142Asn	rs1469281991	missense variant	-	NC_000020.11:g.32428376G>A	gnomAD
ASXL1	Q8IXJ9	p.Arg143Ter	rs1179121574	stop gained	-	NC_000020.11:g.32428378C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg143Leu	rs144437064	missense variant	-	NC_000020.11:g.32428379G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg143Gln	rs144437064	missense variant	-	NC_000020.11:g.32428379G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu145Phe	rs769594900	missense variant	-	NC_000020.11:g.32428384C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser146Phe	rs1159519046	missense variant	-	NC_000020.11:g.32428388C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser146Thr	rs775171131	missense variant	-	NC_000020.11:g.32428387T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser151Arg	RCV000171344	missense variant	-	NC_000020.11:g.32428404C>A	ClinVar
ASXL1	Q8IXJ9	p.Ser151Arg	rs750955319	missense variant	-	NC_000020.11:g.32428404C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser151Gly	rs767904889	missense variant	-	NC_000020.11:g.32428402A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr152Cys	rs1396093056	missense variant	-	NC_000020.11:g.32428406A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln157Leu	rs867244048	missense variant	-	NC_000020.11:g.32428421A>T	gnomAD
ASXL1	Q8IXJ9	p.Gln157Arg	rs867244048	missense variant	-	NC_000020.11:g.32428421A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala158Thr	rs1190521844	missense variant	-	NC_000020.11:g.32429338G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala158Pro	rs1190521844	missense variant	-	NC_000020.11:g.32429338G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala158Val	rs1259109293	missense variant	-	NC_000020.11:g.32429339C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn159Lys	rs1019881696	missense variant	-	NC_000020.11:g.32429343C>A	TOPMed
ASXL1	Q8IXJ9	p.Gln161Arg	rs759662137	missense variant	-	NC_000020.11:g.32429348A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys163Arg	rs765345307	missense variant	-	NC_000020.11:g.32429354A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly166Arg	rs752930699	missense variant	-	NC_000020.11:g.32429362G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly166Glu	rs758651476	missense variant	-	NC_000020.11:g.32429363G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val167Met	rs1374773723	missense variant	-	NC_000020.11:g.32429365G>A	gnomAD
ASXL1	Q8IXJ9	p.Met168Leu	rs200503314	missense variant	-	NC_000020.11:g.32429368A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met168Leu	RCV000341613	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32429368A>T	ClinVar
ASXL1	Q8IXJ9	p.Leu169Val	rs751394199	missense variant	-	NC_000020.11:g.32429371C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val173Ala	rs1293492156	missense variant	-	NC_000020.11:g.32429384T>C	gnomAD
ASXL1	Q8IXJ9	p.Val173Ile	rs781321640	missense variant	-	NC_000020.11:g.32429383G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly181Val	rs1263730148	missense variant	-	NC_000020.11:g.32429408G>T	TOPMed
ASXL1	Q8IXJ9	p.His183Tyr	rs755747902	missense variant	-	NC_000020.11:g.32429413C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val184Met	rs140731196	missense variant	-	NC_000020.11:g.32429416G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val184Leu	rs140731196	missense variant	-	NC_000020.11:g.32429416G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala187Val	rs1468736888	missense variant	-	NC_000020.11:g.32429426C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser191Leu	rs779803649	missense variant	-	NC_000020.11:g.32429907C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser191Trp	rs779803649	missense variant	-	NC_000020.11:g.32429907C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly192Asp	rs778674124	missense variant	-	NC_000020.11:g.32429910G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys193Tyr	rs1237338977	missense variant	-	NC_000020.11:g.32429913G>A	gnomAD
ASXL1	Q8IXJ9	p.His194Arg	rs771351026	missense variant	-	NC_000020.11:g.32429916A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His194Gln	rs116633791	missense variant	-	NC_000020.11:g.32429917C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His194Pro	rs771351026	missense variant	-	NC_000020.11:g.32429916A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp196Asn	rs1005458245	missense variant	-	NC_000020.11:g.32429921G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu198Gln	rs376793343	missense variant	-	NC_000020.11:g.32429927G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu198Lys	rs376793343	missense variant	-	NC_000020.11:g.32429927G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser199Arg	rs774775836	missense variant	-	NC_000020.11:g.32429932C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly200Ser	rs368981019	missense variant	-	NC_000020.11:g.32429933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly200Cys	rs368981019	missense variant	-	NC_000020.11:g.32429933G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser201Gly	rs1454532242	missense variant	-	NC_000020.11:g.32429936A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser201Asn	rs1164268660	missense variant	-	NC_000020.11:g.32429937G>A	gnomAD
ASXL1	Q8IXJ9	p.Pro202Leu	rs750262296	missense variant	-	NC_000020.11:g.32429940C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro202Thr	rs767787155	missense variant	-	NC_000020.11:g.32429939C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro202Ser	rs767787155	missense variant	-	NC_000020.11:g.32429939C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser206Asn	rs753695060	missense variant	-	NC_000020.11:g.32429952G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser207Gly	rs1318312862	missense variant	-	NC_000020.11:g.32429954A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly208Asp	rs778390869	missense variant	-	NC_000020.11:g.32429958G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly208Ser	rs754572422	missense variant	-	NC_000020.11:g.32429957G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala211Val	rs1265899855	missense variant	-	NC_000020.11:g.32429967C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg218Cys	rs564841799	missense variant	-	NC_000020.11:g.32429987C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg218Ser	rs564841799	missense variant	-	NC_000020.11:g.32429987C>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg218Pro	rs373418380	missense variant	-	NC_000020.11:g.32429988G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg218His	rs373418380	missense variant	-	NC_000020.11:g.32429988G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly219Val	rs587778064	missense variant	-	NC_000020.11:g.32429991G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly219Val	RCV000120114	missense variant	-	NC_000020.11:g.32429991G>T	ClinVar
ASXL1	Q8IXJ9	p.Glu222Lys	RCV000498145	missense variant	-	NC_000020.11:g.32429999G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu222Lys	RCV000503508	missense variant	Global developmental delay (DD)	NC_000020.11:g.32429999G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu222Lys	rs780662350	missense variant	-	NC_000020.11:g.32429999G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu222Gly	rs1364923384	missense variant	-	NC_000020.11:g.32430000A>G	TOPMed
ASXL1	Q8IXJ9	p.Thr224Ile	rs1165775102	missense variant	-	NC_000020.11:g.32430006C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln225Arg	rs1460951231	missense variant	-	NC_000020.11:g.32430009A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala228Val	rs587778063	missense variant	-	NC_000020.11:g.32430018C>T	-
ASXL1	Q8IXJ9	p.Ala228Val	RCV000120113	missense variant	-	NC_000020.11:g.32430018C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro229Ser	rs1300241784	missense variant	-	NC_000020.11:g.32430020C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro229Leu	rs576523117	missense variant	-	NC_000020.11:g.32430021C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro229Leu	RCV000288522	missense variant	-	NC_000020.11:g.32430021C>T	ClinVar
ASXL1	Q8IXJ9	p.Phe234Ser	rs1353196273	missense variant	-	NC_000020.11:g.32430036T>C	gnomAD
ASXL1	Q8IXJ9	p.Arg235Trp	rs1234855061	missense variant	-	NC_000020.11:g.32430038C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg235Gln	rs1234538414	missense variant	-	NC_000020.11:g.32430039G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys236Gln	rs761932590	missense variant	-	NC_000020.11:g.32430041A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr239Ala	rs1306818500	missense variant	-	NC_000020.11:g.32430050A>G	gnomAD
ASXL1	Q8IXJ9	p.Met242Val	rs765190948	missense variant	-	NC_000020.11:g.32431326A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg244Ser	rs775377413	missense variant	-	NC_000020.11:g.32431332C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg244Cys	rs775377413	missense variant	-	NC_000020.11:g.32431332C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg244His	rs139716375	missense variant	-	NC_000020.11:g.32431333G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn245Ile	rs763582989	missense variant	-	NC_000020.11:g.32431336A>T	ExAC
ASXL1	Q8IXJ9	p.Gly247Trp	rs1179449889	missense variant	-	NC_000020.11:g.32431341G>T	TOPMed
ASXL1	Q8IXJ9	p.Ile250Val	rs1478523808	missense variant	-	NC_000020.11:g.32431350A>G	gnomAD
ASXL1	Q8IXJ9	p.Ile250Met	rs1158370661	missense variant	-	NC_000020.11:g.32431352A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly256Arg	rs1282158059	missense variant	-	NC_000020.11:g.32431368G>A	gnomAD
ASXL1	Q8IXJ9	p.Ile258Val	rs1398631312	missense variant	-	NC_000020.11:g.32431374A>G	gnomAD
ASXL1	Q8IXJ9	p.Arg265His	rs144349534	missense variant	-	NC_000020.11:g.32431396G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg265Cys	rs767144159	missense variant	-	NC_000020.11:g.32431395C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg265Gly	rs767144159	missense variant	-	NC_000020.11:g.32431395C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala266Asp	rs1469495344	missense variant	-	NC_000020.11:g.32431399C>A	TOPMed
ASXL1	Q8IXJ9	p.Ile268Phe	rs200053121	missense variant	-	NC_000020.11:g.32431404A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile268Val	rs200053121	missense variant	-	NC_000020.11:g.32431404A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile268Met	rs1436870251	missense variant	-	NC_000020.11:g.32431406C>G	gnomAD
ASXL1	Q8IXJ9	p.Asn269Thr	rs779609836	missense variant	-	NC_000020.11:g.32431408A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser270Pro	rs1286153885	missense variant	-	NC_000020.11:g.32431410T>C	TOPMed
ASXL1	Q8IXJ9	p.Arg271Trp	rs748649917	missense variant	-	NC_000020.11:g.32431413C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg271Pro	rs576447224	missense variant	-	NC_000020.11:g.32431414G>C	1000Genomes,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg271Gln	rs576447224	missense variant	-	NC_000020.11:g.32431414G>A	1000Genomes,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His274Leu	rs1274990710	missense variant	-	NC_000020.11:g.32431423A>T	gnomAD
ASXL1	Q8IXJ9	p.Phe280Leu	rs1268838941	missense variant	-	NC_000020.11:g.32431440T>C	gnomAD
ASXL1	Q8IXJ9	p.Phe280Leu	rs1334351668	missense variant	-	NC_000020.11:g.32431442C>G	gnomAD
ASXL1	Q8IXJ9	p.Gln283His	rs1275538082	missense variant	-	NC_000020.11:g.32431451G>C	gnomAD
ASXL1	Q8IXJ9	p.Glu290Val	rs948107833	missense variant	-	NC_000020.11:g.32431471A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu290Ala	rs948107833	missense variant	-	NC_000020.11:g.32431471A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val295Ala	rs750064853	missense variant	-	NC_000020.11:g.32431584T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr297Met	rs373599045	missense variant	-	NC_000020.11:g.32431590C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr297Met	RCV000301957	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32431590C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg302His	rs769717271	missense variant	-	NC_000020.11:g.32431605G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg302Cys	rs1167333195	missense variant	-	NC_000020.11:g.32431604C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg302Ser	rs1167333195	missense variant	-	NC_000020.11:g.32431604C>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu303Pro	rs1431344191	missense variant	-	NC_000020.11:g.32431608T>C	gnomAD
ASXL1	Q8IXJ9	p.Ser304Cys	rs146637943	missense variant	-	NC_000020.11:g.32431610A>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser305Ile	rs1413217828	missense variant	-	NC_000020.11:g.32431614G>T	gnomAD
ASXL1	Q8IXJ9	p.His315Leu	rs781319292	missense variant	-	NC_000020.11:g.32431644A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala316Val	rs1485128289	missense variant	-	NC_000020.11:g.32431647C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala317Ser	rs1257658232	missense variant	-	NC_000020.11:g.32431649G>T	gnomAD
ASXL1	Q8IXJ9	p.Ala317Val	rs1290952848	missense variant	-	NC_000020.11:g.32431650C>T	TOPMed
ASXL1	Q8IXJ9	p.Gln318Ter	rs1174269593	stop gained	-	NC_000020.11:g.32431652C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg321Gln	rs769646696	missense variant	-	NC_000020.11:g.32431662G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu328Gln	rs1330515767	missense variant	-	NC_000020.11:g.32432882G>C	gnomAD
ASXL1	Q8IXJ9	p.His331Asp	RCV000300567	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32432891C>G	ClinVar
ASXL1	Q8IXJ9	p.His331Asp	rs886056597	missense variant	-	NC_000020.11:g.32432891C>G	-
ASXL1	Q8IXJ9	p.His331Arg	rs1208821068	missense variant	-	NC_000020.11:g.32432892A>G	gnomAD
ASXL1	Q8IXJ9	p.His331Gln	rs527956473	missense variant	-	NC_000020.11:g.32432893T>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met333Ile	rs587778058	missense variant	-	NC_000020.11:g.32432899G>T	-
ASXL1	Q8IXJ9	p.Met333Ile	RCV000120088	missense variant	-	NC_000020.11:g.32432899G>T	ClinVar
ASXL1	Q8IXJ9	p.Ile337Lys	rs1379240545	missense variant	-	NC_000020.11:g.32432910T>A	TOPMed
ASXL1	Q8IXJ9	p.Arg338Gln	rs763319023	missense variant	-	NC_000020.11:g.32432913G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu340Lys	rs1180014276	missense variant	-	NC_000020.11:g.32432918G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu340Asp	rs1414475265	missense variant	-	NC_000020.11:g.32432920A>C	gnomAD
ASXL1	Q8IXJ9	p.Glu344Gly	rs1460118565	missense variant	-	NC_000020.11:g.32432931A>G	TOPMed
ASXL1	Q8IXJ9	p.Glu348Gln	rs368107684	missense variant	-	NC_000020.11:g.32432942G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu348Lys	rs368107684	missense variant	-	NC_000020.11:g.32432942G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln349Arg	rs1164335635	missense variant	-	NC_000020.11:g.32432946A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys353Gln	rs756364371	missense variant	-	NC_000020.11:g.32432957A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Tyr358Cys	rs1415471931	missense variant	-	NC_000020.11:g.32432973A>G	TOPMed
ASXL1	Q8IXJ9	p.Tyr359Cys	rs754808303	missense variant	-	NC_000020.11:g.32432976A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly364Asp	rs756902273	missense variant	-	NC_000020.11:g.32433289G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu369Gly	rs1382217601	missense variant	-	NC_000020.11:g.32433304A>G	TOPMed
ASXL1	Q8IXJ9	p.Ser370Thr	rs557983754	missense variant	-	NC_000020.11:g.32433306T>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln372Glu	rs199846284	missense variant	-	NC_000020.11:g.32433312C>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln372Ter	rs199846284	stop gained	-	NC_000020.11:g.32433312C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln372Lys	rs199846284	missense variant	-	NC_000020.11:g.32433312C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln373Ter	RCV000622427	nonsense	Inborn genetic diseases	NC_000020.11:g.32433315C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln373Ter	rs1427299519	stop gained	-	NC_000020.11:g.32433315C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val375Met	rs748644253	missense variant	-	NC_000020.11:g.32433321G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val375Leu	rs748644253	missense variant	-	NC_000020.11:g.32433321G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln377Ter	rs1386196069	stop gained	-	NC_000020.11:g.32433327C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu379Ala	rs1434163063	missense variant	-	NC_000020.11:g.32433334A>C	gnomAD
ASXL1	Q8IXJ9	p.Lys383Arg	rs1203866783	missense variant	-	NC_000020.11:g.32433346A>G	TOPMed
ASXL1	Q8IXJ9	p.Gly385Ser	rs963466544	missense variant	-	NC_000020.11:g.32433351G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu386Ter	rs772584710	stop gained	-	NC_000020.11:g.32433355T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu386Phe	rs773501932	missense variant	-	NC_000020.11:g.32433356G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys387Phe	rs1302955173	missense variant	-	NC_000020.11:g.32433358G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys387Tyr	rs1302955173	missense variant	-	NC_000020.11:g.32433358G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val388Ter	RCV000592184	frameshift	-	NC_000020.11:g.32433356_32433357GT[2]	ClinVar
ASXL1	Q8IXJ9	p.Val388Leu	rs145699348	missense variant	-	NC_000020.11:g.32433360G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val388Ala	rs771344849	missense variant	-	NC_000020.11:g.32433361T>C	ExAC
ASXL1	Q8IXJ9	p.Val388Ile	rs145699348	missense variant	-	NC_000020.11:g.32433360G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val388Ile	RCV000353113	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433360G>A	ClinVar
ASXL1	Q8IXJ9	p.Pro389Arg	rs776891768	missense variant	-	NC_000020.11:g.32433364C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu391Asp	rs1305163905	missense variant	-	NC_000020.11:g.32433371A>T	TOPMed
ASXL1	Q8IXJ9	p.Arg394Cys	rs534065676	missense variant	-	NC_000020.11:g.32433378C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg394His	rs201899433	missense variant	-	NC_000020.11:g.32433379G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln396Arg	rs762925891	missense variant	-	NC_000020.11:g.32433385A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg397Gly	rs369058266	missense variant	-	NC_000020.11:g.32433387C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg397Cys	rs369058266	missense variant	-	NC_000020.11:g.32433387C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg397His	rs757102293	missense variant	-	NC_000020.11:g.32433388G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly398Asp	rs781178976	missense variant	-	NC_000020.11:g.32433391G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg402Gln	rs755749479	missense variant	-	NC_000020.11:g.32433403G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln403Leu	rs1454065495	missense variant	-	NC_000020.11:g.32433406A>T	gnomAD
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000627196	nonsense	-	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg404Gln	rs748755685	missense variant	-	NC_000020.11:g.32433409G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000415151	nonsense	Developmental delay	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000414833	nonsense	Hypertrichosis	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg404Ter	rs373145711	stop gained	-	NC_000020.11:g.32433408C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg404Ter	RCV000023977	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433408C>T	ClinVar
ASXL1	Q8IXJ9	p.Asp405Gly	rs768224767	missense variant	-	NC_000020.11:g.32433412A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly406Val	rs778241944	missense variant	-	NC_000020.11:g.32433415G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg411His	rs143719307	missense variant	-	NC_000020.11:g.32433430G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg411Cys	rs148964601	missense variant	-	NC_000020.11:g.32433429C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser412Pro	rs776892604	missense variant	-	NC_000020.11:g.32433432T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser412Phe	rs201016007	missense variant	-	NC_000020.11:g.32433433C>T	-
ASXL1	Q8IXJ9	p.Arg413Leu	rs1466780451	missense variant	-	NC_000020.11:g.32433436G>T	TOPMed
ASXL1	Q8IXJ9	p.Arg413Trp	rs1272820357	missense variant	-	NC_000020.11:g.32433435C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg413Gln	rs1466780451	missense variant	-	NC_000020.11:g.32433436G>A	TOPMed
ASXL1	Q8IXJ9	p.Arg417Gly	rs375215583	missense variant	-	NC_000020.11:g.32433447C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg417Ter	RCV000326340	nonsense	-	NC_000020.11:g.32433447C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg417Ter	RCV000779346	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433447C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg417Gln	rs769921728	missense variant	-	NC_000020.11:g.32433448G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg417Ter	rs375215583	stop gained	-	NC_000020.11:g.32433447C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg422Gly	rs1210656444	missense variant	-	NC_000020.11:g.32433462A>G	gnomAD
ASXL1	Q8IXJ9	p.Asn423Ser	RCV000260381	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433466A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn423Ser	rs886056598	missense variant	-	NC_000020.11:g.32433466A>G	-
ASXL1	Q8IXJ9	p.Gln428Ter	RCV000297241	frameshift	-	NC_000020.11:g.32433479dup	ClinVar
ASXL1	Q8IXJ9	p.Gln428Ter	RCV000325688	nonsense	-	NC_000020.11:g.32433480C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln428Ter	RCV000735213	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32433481_32433482del	ClinVar
ASXL1	Q8IXJ9	p.Gln428Ter	rs886041975	stop gained	-	NC_000020.11:g.32433480C>T	TOPMed
ASXL1	Q8IXJ9	p.Glu431Gly	rs1248768238	missense variant	-	NC_000020.11:g.32433490A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln432Ter	rs764325672	stop gained	-	NC_000020.11:g.32433492C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala433Pro	rs1464725319	missense variant	-	NC_000020.11:g.32433495G>C	gnomAD
ASXL1	Q8IXJ9	p.Gly434Glu	rs1191343540	missense variant	-	NC_000020.11:g.32433499G>A	gnomAD
ASXL1	Q8IXJ9	p.Val435Phe	rs1249356614	missense variant	-	NC_000020.11:g.32433501G>T	TOPMed
ASXL1	Q8IXJ9	p.Ala436Ser	rs1410759251	missense variant	-	NC_000020.11:g.32433504G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp438Tyr	rs1471354306	missense variant	-	NC_000020.11:g.32433510G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp438Glu	rs1160704020	missense variant	-	NC_000020.11:g.32433512T>A	gnomAD
ASXL1	Q8IXJ9	p.Lys440Glu	rs1389330371	missense variant	-	NC_000020.11:g.32433516A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser441Phe	rs751518063	missense variant	-	NC_000020.11:g.32433520C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala443Asp	rs1351336989	missense variant	-	NC_000020.11:g.32433526C>A	gnomAD
ASXL1	Q8IXJ9	p.Ser444Leu	rs373126831	missense variant	-	NC_000020.11:g.32433529C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser444Ter	rs373126831	stop gained	-	NC_000020.11:g.32433529C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser444Ter	rs373126831	stop gained	-	NC_000020.11:g.32433529C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser444Pro	rs750204108	missense variant	-	NC_000020.11:g.32433528T>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp445Gly	rs201151457	missense variant	-	NC_000020.11:g.32433532A>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val446Ile	RCV000313477	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433534G>A	ClinVar
ASXL1	Q8IXJ9	p.Val446Ile	rs376229687	missense variant	-	NC_000020.11:g.32433534G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro447Thr	rs1334789337	missense variant	-	NC_000020.11:g.32433537C>A	gnomAD
ASXL1	Q8IXJ9	p.Leu448Pro	RCV000370446	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433541T>C	ClinVar
ASXL1	Q8IXJ9	p.Leu448Pro	rs886056599	missense variant	-	NC_000020.11:g.32433541T>C	TOPMed
ASXL1	Q8IXJ9	p.Tyr449Cys	rs778435999	missense variant	-	NC_000020.11:g.32433544A>G	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Gly452Arg	rs1052747905	missense variant	-	NC_000020.11:g.32433552G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala454Val	rs1227044536	missense variant	-	NC_000020.11:g.32433559C>T	gnomAD
ASXL1	Q8IXJ9	p.Lys455Ter	rs1292471399	stop gained	-	NC_000020.11:g.32433561A>T	gnomAD
ASXL1	Q8IXJ9	p.Thr456Ile	rs747475412	missense variant	-	NC_000020.11:g.32433565C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp457Asn	rs912915179	missense variant	-	NC_000020.11:g.32433567G>A	TOPMed
ASXL1	Q8IXJ9	p.Pro458Arg	rs1481847597	missense variant	-	NC_000020.11:g.32433571C>G	gnomAD
ASXL1	Q8IXJ9	p.Gly460Glu	rs1183748271	missense variant	-	NC_000020.11:g.32433577G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser462Gly	rs1472430198	missense variant	-	NC_000020.11:g.32433582A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser462Asn	rs1364461359	missense variant	-	NC_000020.11:g.32433583G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser463Asn	rs373486603	missense variant	-	NC_000020.11:g.32433586G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser463Thr	RCV000273509	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433586G>C	ClinVar
ASXL1	Q8IXJ9	p.Ser463Gly	rs1161459110	missense variant	-	NC_000020.11:g.32433585A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser463Asn	RCV000120089	missense variant	-	NC_000020.11:g.32433586G>A	ClinVar
ASXL1	Q8IXJ9	p.Ser463Thr	rs373486603	missense variant	-	NC_000020.11:g.32433586G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro464Leu	rs1405789384	missense variant	-	NC_000020.11:g.32433589C>T	gnomAD
ASXL1	Q8IXJ9	p.His465Arg	rs749568474	missense variant	-	NC_000020.11:g.32433592A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu466Arg	rs768821760	missense variant	-	NC_000020.11:g.32433595T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr469Ile	rs774600044	missense variant	-	NC_000020.11:g.32433604C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser470Ter	RCV000478898	frameshift	-	NC_000020.11:g.32433604dup	ClinVar
ASXL1	Q8IXJ9	p.Ser470Thr	rs1357638839	missense variant	-	NC_000020.11:g.32433606T>A	gnomAD
ASXL1	Q8IXJ9	p.Ala472Val	rs760377286	missense variant	-	NC_000020.11:g.32433613C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala473Thr	rs1358407610	missense variant	-	NC_000020.11:g.32433615G>A	TOPMed
ASXL1	Q8IXJ9	p.Pro474Ser	rs766248526	missense variant	-	NC_000020.11:g.32433618C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro474Leu	rs1252085188	missense variant	-	NC_000020.11:g.32433619C>T	gnomAD
ASXL1	Q8IXJ9	p.Asp475Asn	rs754658635	missense variant	-	NC_000020.11:g.32433621G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu477Gln	rs141346625	missense variant	-	NC_000020.11:g.32433627G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu477Ter	rs141346625	stop gained	-	NC_000020.11:g.32433627G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu477Gln	RCV000120090	missense variant	-	NC_000020.11:g.32433627G>C	ClinVar
ASXL1	Q8IXJ9	p.Gly478Val	rs1327084977	missense variant	-	NC_000020.11:g.32433631G>T	TOPMed
ASXL1	Q8IXJ9	p.Gly478Ter	RCV000657555	frameshift	-	NC_000020.11:g.32433631del	ClinVar
ASXL1	Q8IXJ9	p.Glu480Ter	rs545224250	stop gained	-	NC_000020.11:g.32433636G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu480Lys	rs545224250	missense variant	-	NC_000020.11:g.32433636G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val483Ter	RCV000623422	frameshift	Inborn genetic diseases	NC_000020.11:g.32433644dup	ClinVar
ASXL1	Q8IXJ9	p.Glu484Gln	rs1388025911	missense variant	-	NC_000020.11:g.32433648G>C	gnomAD
ASXL1	Q8IXJ9	p.Ser485Cys	rs1431862341	missense variant	-	NC_000020.11:g.32433652C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser488Phe	rs781545960	missense variant	-	NC_000020.11:g.32433661C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg489Gly	rs142172134	missense variant	-	NC_000020.11:g.32433663C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg489Gln	rs780602186	missense variant	-	NC_000020.11:g.32433664G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg489Trp	rs142172134	missense variant	-	NC_000020.11:g.32433663C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln491Ter	rs1335820343	stop gained	-	NC_000020.11:g.32433669C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala492Ser	rs145913172	missense variant	-	NC_000020.11:g.32433672G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala492Asp	rs141314105	missense variant	-	NC_000020.11:g.32433673C>A	gnomAD
ASXL1	Q8IXJ9	p.Ala492Val	rs141314105	missense variant	-	NC_000020.11:g.32433673C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala492Pro	rs145913172	missense variant	-	NC_000020.11:g.32433672G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu493Ter	rs1434942289	stop gained	-	NC_000020.11:g.32433675G>T	gnomAD
ASXL1	Q8IXJ9	p.Asn496Lys	rs769017790	missense variant	-	NC_000020.11:g.32433686C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn496Lys	RCV000330940	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32433686C>G	ClinVar
ASXL1	Q8IXJ9	p.Ala498Ter	RCV000723150	frameshift	-	NC_000020.11:g.32433690dup	ClinVar
ASXL1	Q8IXJ9	p.Arg499Cys	rs376089258	missense variant	-	NC_000020.11:g.32433693C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg499His	rs549287573	missense variant	-	NC_000020.11:g.32433694G>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala502Val	rs772255605	missense variant	-	NC_000020.11:g.32433703C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala502Ser	rs1280067131	missense variant	-	NC_000020.11:g.32433702G>T	gnomAD
ASXL1	Q8IXJ9	p.Ser503Cys	rs773003506	missense variant	-	NC_000020.11:g.32433706C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro504Arg	rs1246107812	missense variant	-	NC_000020.11:g.32433709C>G	gnomAD
ASXL1	Q8IXJ9	p.Asp505Val	rs528890865	missense variant	-	NC_000020.11:g.32433712A>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp505Gly	rs528890865	missense variant	-	NC_000020.11:g.32433712A>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp505Asn	rs561374294	missense variant	-	NC_000020.11:g.32433711G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp505His	rs561374294	missense variant	-	NC_000020.11:g.32433711G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg506Thr	rs1464693264	missense variant	-	NC_000020.11:g.32433715G>C	gnomAD
ASXL1	Q8IXJ9	p.Arg506Gly	rs1307231164	missense variant	-	NC_000020.11:g.32433714A>G	TOPMed
ASXL1	Q8IXJ9	p.Arg506Ile	rs1464693264	missense variant	-	NC_000020.11:g.32433715G>T	gnomAD
ASXL1	Q8IXJ9	p.Ile507Asn	rs138971201	missense variant	-	NC_000020.11:g.32433718T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile507Met	rs764873181	missense variant	-	NC_000020.11:g.32433719T>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro508Thr	rs1456774256	missense variant	-	NC_000020.11:g.32433720C>A	gnomAD
ASXL1	Q8IXJ9	p.Ser509Thr	rs1325586245	missense variant	-	NC_000020.11:g.32433724G>C	TOPMed
ASXL1	Q8IXJ9	p.Ser509Arg	rs1319205628	missense variant	-	NC_000020.11:g.32433725C>A	gnomAD
ASXL1	Q8IXJ9	p.Leu510Pro	rs752413007	missense variant	-	NC_000020.11:g.32433727T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln512Ter	rs757832294	stop gained	-	NC_000020.11:g.32433732C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu513Ter	rs763708711	stop gained	-	NC_000020.11:g.32433735G>T	ExAC
ASXL1	Q8IXJ9	p.Glu513Asp	rs750860968	missense variant	-	NC_000020.11:g.32433737A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val515Met	rs370749247	missense variant	-	NC_000020.11:g.32433741G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val515Ter	RCV000622658	frameshift	Inborn genetic diseases	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
ASXL1	Q8IXJ9	p.Val515Ter	RCV000778133	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
ASXL1	Q8IXJ9	p.Val515Ter	RCV000366685	frameshift	-	NC_000020.11:g.32433740_32433741TG[1]	ClinVar
ASXL1	Q8IXJ9	p.Asp516Tyr	rs754265104	missense variant	-	NC_000020.11:g.32433744G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln517Ter	rs755464186	stop gained	-	NC_000020.11:g.32433747C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu518Val	rs779269318	missense variant	-	NC_000020.11:g.32433751A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu518Lys	rs1209779368	missense variant	-	NC_000020.11:g.32433750G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln522Ter	rs772017757	stop gained	-	NC_000020.11:g.32433762C>T	ExAC
ASXL1	Q8IXJ9	p.Ser526Phe	rs1431666756	missense variant	-	NC_000020.11:g.32433775C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser526Thr	rs1266341581	missense variant	-	NC_000020.11:g.32433774T>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Phe527Leu	rs777942161	missense variant	-	NC_000020.11:g.32433779T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu528Gln	rs746873290	missense variant	-	NC_000020.11:g.32433780G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu528Ter	rs746873290	stop gained	-	NC_000020.11:g.32433780G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln529Ter	rs770914619	stop gained	-	NC_000020.11:g.32433783C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala530Val	rs988568801	missense variant	-	NC_000020.11:g.32433787C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser534Cys	rs1458183314	missense variant	-	NC_000020.11:g.32433799C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro536Leu	rs1247116484	missense variant	-	NC_000020.11:g.32433805C>T	TOPMed
ASXL1	Q8IXJ9	p.Glu537Ter	rs369425922	stop gained	-	NC_000020.11:g.32433807G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu537Lys	rs369425922	missense variant	-	NC_000020.11:g.32433807G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro540Ser	rs1023881021	missense variant	-	NC_000020.11:g.32433816C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro540Ala	rs1023881021	missense variant	-	NC_000020.11:g.32433816C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu542Arg	rs762705745	missense variant	-	NC_000020.11:g.32433823T>G	ExAC
ASXL1	Q8IXJ9	p.Asp544Glu	rs761024882	missense variant	-	NC_000020.11:g.32433830T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp544Gly	rs751100079	missense variant	-	NC_000020.11:g.32433829A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg545Cys	rs137920574	missense variant	-	NC_000020.11:g.32433831C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg545His	rs149449801	missense variant	-	NC_000020.11:g.32433832G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg545Ser	rs137920574	missense variant	-	NC_000020.11:g.32433831C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln546Ter	rs1264792645	stop gained	-	NC_000020.11:g.32433834C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg549Cys	rs1299423705	missense variant	-	NC_000020.11:g.32433843C>T	TOPMed
ASXL1	Q8IXJ9	p.Thr551Ser	rs755376183	missense variant	-	NC_000020.11:g.32433849A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile552Val	rs143952412	missense variant	-	NC_000020.11:g.32433852A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile552Thr	rs1180135415	missense variant	-	NC_000020.11:g.32433853T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu553Ter	RCV000778628	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32433855G>T	ClinVar
ASXL1	Q8IXJ9	p.Ser554Asn	rs752824843	missense variant	-	NC_000020.11:g.32433859G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser554Thr	rs752824843	missense variant	-	NC_000020.11:g.32433859G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val555Ile	rs1425563487	missense variant	-	NC_000020.11:g.32433861G>A	TOPMed
ASXL1	Q8IXJ9	p.His556Tyr	rs1164774013	missense variant	-	NC_000020.11:g.32433864C>T	gnomAD
ASXL1	Q8IXJ9	p.Thr557Ala	rs1185741428	missense variant	-	NC_000020.11:g.32433867A>G	TOPMed
ASXL1	Q8IXJ9	p.Thr557Ser	rs1474354822	missense variant	-	NC_000020.11:g.32433868C>G	TOPMed
ASXL1	Q8IXJ9	p.Glu558Lys	rs899345535	missense variant	-	NC_000020.11:g.32433870G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu558Ter	rs899345535	stop gained	-	NC_000020.11:g.32433870G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro562Ser	rs771064807	missense variant	-	NC_000020.11:g.32433882C>T	ExAC
ASXL1	Q8IXJ9	p.Thr563Ile	rs1279770197	missense variant	-	NC_000020.11:g.32433886C>T	TOPMed
ASXL1	Q8IXJ9	p.Thr563Ala	rs769192383	missense variant	-	NC_000020.11:g.32433885A>G	gnomAD
ASXL1	Q8IXJ9	p.Lys564Glu	rs994849358	missense variant	-	NC_000020.11:g.32433888A>G	TOPMed
ASXL1	Q8IXJ9	p.Glu566Asp	rs1279708959	missense variant	-	NC_000020.11:g.32433896G>C	TOPMed
ASXL1	Q8IXJ9	p.Glu566Val	rs139843035	missense variant	-	NC_000020.11:g.32433895A>T	ESP
ASXL1	Q8IXJ9	p.Pro567Ser	rs1047797896	missense variant	-	NC_000020.11:g.32433897C>T	TOPMed
ASXL1	Q8IXJ9	p.Lys568Arg	rs1338995781	missense variant	-	NC_000020.11:g.32433901A>G	TOPMed
ASXL1	Q8IXJ9	p.Pro570Leu	rs539520990	missense variant	-	NC_000020.11:g.32433907C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg573Trp	rs373685182	missense variant	-	NC_000020.11:g.32433915C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg573Gln	rs144440597	missense variant	-	NC_000020.11:g.32433916G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln575Ter	rs747847938	stop gained	-	NC_000020.11:g.32434435C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln575His	rs771671358	missense variant	-	NC_000020.11:g.32434437A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser577Pro	rs772873915	missense variant	-	NC_000020.11:g.32434441T>C	ExAC
ASXL1	Q8IXJ9	p.Arg578His	rs921565741	missense variant	-	NC_000020.11:g.32434445G>A	TOPMed
ASXL1	Q8IXJ9	p.Ile579Val	rs368930454	missense variant	-	NC_000020.11:g.32434447A>G	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro581Leu	rs775928560	missense variant	-	NC_000020.11:g.32434454C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro581Arg	rs775928560	missense variant	-	NC_000020.11:g.32434454C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro582Ser	rs1488971611	missense variant	-	NC_000020.11:g.32434456C>T	TOPMed
ASXL1	Q8IXJ9	p.Trp583Ter	rs763361634	stop gained	-	NC_000020.11:g.32434460G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Trp583Ter	rs1174760074	stop gained	-	NC_000020.11:g.32434461G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly587Cys	rs764414702	missense variant	-	NC_000020.11:g.32434471G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln588Ter	rs1486082302	stop gained	-	NC_000020.11:g.32434474C>T	gnomAD
ASXL1	Q8IXJ9	p.Gln588Ter	RCV000760590	nonsense	-	NC_000020.11:g.32434474C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro589Leu	rs751772819	missense variant	-	NC_000020.11:g.32434478C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Tyr591Ter	rs371369583	stop gained	-	NC_000020.11:g.32434485C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr591Ter	RCV000519960	nonsense	-	NC_000020.11:g.32434485C>G	ClinVar
ASXL1	Q8IXJ9	p.Tyr591Ter	rs762036456	stop gained	-	NC_000020.11:g.32434484dup	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr591Ter	rs371369583	stop gained	-	NC_000020.11:g.32434485C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln592Arg	rs750512886	missense variant	-	NC_000020.11:g.32434487A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln592Ter	rs951716574	stop gained	-	NC_000020.11:g.32434486C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile593Val	rs1299465576	missense variant	-	NC_000020.11:g.32434489A>G	gnomAD
ASXL1	Q8IXJ9	p.Cys594Arg	rs1204364792	missense variant	-	NC_000020.11:g.32434492T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys594Ter	rs755974145	stop gained	-	NC_000020.11:g.32434494C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg596Trp	rs780033634	missense variant	-	NC_000020.11:g.32434498C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile597Leu	rs984648436	missense variant	-	NC_000020.11:g.32434501A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr600Ile	rs754774849	missense variant	-	NC_000020.11:g.32434511C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr601Ala	rs1298915538	missense variant	-	NC_000020.11:g.32434513A>G	TOPMed
ASXL1	Q8IXJ9	p.Thr601Met	rs778606251	missense variant	-	NC_000020.11:g.32434514C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys605Phe	rs772781848	missense variant	-	NC_000020.11:g.32434526G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys605Tyr	rs772781848	missense variant	-	NC_000020.11:g.32434526G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg606Gln	rs587778061	missense variant	-	NC_000020.11:g.32434529G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg606Trp	rs746515791	missense variant	-	NC_000020.11:g.32434528C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg606Gln	RCV000120104	missense variant	-	NC_000020.11:g.32434529G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly607Cys	rs1369413951	missense variant	-	NC_000020.11:g.32434531G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly607Asp	rs1479104382	missense variant	-	NC_000020.11:g.32434532G>A	TOPMed
ASXL1	Q8IXJ9	p.Trp608Cys	rs1434857838	missense variant	-	NC_000020.11:g.32434536G>C	gnomAD
ASXL1	Q8IXJ9	p.Thr609Ile	rs1292056366	missense variant	-	NC_000020.11:g.32434538C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly610Asp	rs940521669	missense variant	-	NC_000020.11:g.32434541G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala611Ser	rs372418554	missense variant	-	NC_000020.11:g.32434543G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala611Thr	rs372418554	missense variant	-	NC_000020.11:g.32434543G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg612Ser	rs1224237404	missense variant	-	NC_000020.11:g.32434548G>T	gnomAD
ASXL1	Q8IXJ9	p.Thr613Ile	rs1287753337	missense variant	-	NC_000020.11:g.32434550C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala615Thr	rs1230703370	missense variant	-	NC_000020.11:g.32434555G>A	gnomAD
ASXL1	Q8IXJ9	p.Ile617Val	rs1285568939	missense variant	-	NC_000020.11:g.32434561A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.IleLys617IleLysTerUnk	rs1555911840	stop gained	-	NC_000020.11:g.32434563_32434566dup	TOPMed
ASXL1	Q8IXJ9	p.Ile617Phe	rs1285568939	missense variant	-	NC_000020.11:g.32434561A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys618Glu	rs774719088	missense variant	-	NC_000020.11:g.32434564A>G	ExAC
ASXL1	Q8IXJ9	p.Arg620Pro	rs750708574	missense variant	-	NC_000020.11:g.32434571G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg620His	rs750708574	missense variant	-	NC_000020.11:g.32434571G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg620Cys	rs561663577	missense variant	-	NC_000020.11:g.32434570C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala621Pro	rs760727236	missense variant	-	NC_000020.11:g.32434573G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala621Thr	rs760727236	missense variant	-	NC_000020.11:g.32434573G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln623Ter	RCV000331527	nonsense	-	NC_000020.11:g.32434579C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln623Ter	rs111316898	stop gained	-	NC_000020.11:g.32434579C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg625Gln	rs199602042	missense variant	-	NC_000020.11:g.32434586G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly626Glu	rs1336373430	missense variant	-	NC_000020.11:g.32434589G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala627Val	rs1162384519	missense variant	-	NC_000020.11:g.32434592C>T	gnomAD
ASXL1	Q8IXJ9	p.Gly629Val	rs1307506315	missense variant	-	NC_000020.11:g.32434598G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly629Ser	rs752546076	missense variant	-	NC_000020.11:g.32434597G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.His631Leu	rs758334915	missense variant	-	NC_000020.11:g.32434604A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys632Ter	rs1356224550	stop gained	-	NC_000020.11:g.32434608C>A	gnomAD
ASXL1	Q8IXJ9	p.Cys632Tyr	rs930925893	missense variant	-	NC_000020.11:g.32434607G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His633Arg	rs201280462	missense variant	-	NC_000020.11:g.32434610A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu635Gly	rs746706200	missense variant	-	NC_000020.11:g.32434616A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala636Val	rs370230857	missense variant	-	NC_000020.11:g.32434619C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala637Gly	RCV000662109	missense variant	Myelodysplastic syndrome (MDS)	NC_000020.11:g.32434622C>G	ClinVar
ASXL1	Q8IXJ9	p.Ala637Gly	RCV000662110	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000020.11:g.32434622C>G	ClinVar
ASXL1	Q8IXJ9	p.Ala637Val	rs769053835	missense variant	-	NC_000020.11:g.32434622C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala637Gly	rs769053835	missense variant	-	NC_000020.11:g.32434622C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala637Thr	rs1183315960	missense variant	-	NC_000020.11:g.32434621G>A	gnomAD
ASXL1	Q8IXJ9	p.Ile641Val	rs1451193317	missense variant	-	NC_000020.11:g.32434633A>G	gnomAD
ASXL1	Q8IXJ9	p.Ile641Ser	rs1425060838	missense variant	-	NC_000020.11:g.32434634T>G	gnomAD
ASXL1	Q8IXJ9	p.Gly642Ter	rs892732207	stop gained	-	NC_000020.11:g.32434636G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly642Arg	rs892732207	missense variant	-	NC_000020.11:g.32434636G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly643Arg	rs773395454	missense variant	-	NC_000020.11:g.32434639G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Trp	rs773395454	missense variant	-	NC_000020.11:g.32434639G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Glu	rs201649676	missense variant	-	NC_000020.11:g.32434640G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Val	rs201649676	missense variant	-	NC_000020.11:g.32434640G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly643Ala	rs201649676	missense variant	-	NC_000020.11:g.32434640G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly644Trp	rs533988689	missense variant	-	NC_000020.11:g.32434642G>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly645Val	rs751215316	missense variant	-	NC_000020.11:g.32434646G>T	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Gly646Ter	RCV000677687	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32434646dup	ClinVar
ASXL1	Q8IXJ9	p.Gly646Ter	RCV000489373	frameshift	-	NC_000020.11:g.32434646dup	ClinVar
ASXL1	Q8IXJ9	p.Pro647Leu	rs745371501	missense variant	-	NC_000020.11:g.32434652C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro647Thr	rs1228100817	missense variant	-	NC_000020.11:g.32434651C>A	gnomAD
ASXL1	Q8IXJ9	p.Gly648Ala	rs1391303880	missense variant	-	NC_000020.11:g.32434655G>C	gnomAD
ASXL1	Q8IXJ9	p.Gly649Glu	rs1273026836	missense variant	-	NC_000020.11:g.32434658G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly652Ser	RCV000120105	missense variant	-	NC_000020.11:g.32434666G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly652Ser	RCV000273071	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434666G>A	ClinVar
ASXL1	Q8IXJ9	p.Gly652Ser	rs3746609	missense variant	-	NC_000020.11:g.32434666G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly653Arg	rs537734228	missense variant	-	NC_000020.11:g.32434669G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly653Glu	rs1187663391	missense variant	-	NC_000020.11:g.32434670G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala654Asp	rs200756074	missense variant	-	NC_000020.11:g.32434673C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala654Val	rs200756074	missense variant	-	NC_000020.11:g.32434673C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala654Thr	rs1378106478	missense variant	-	NC_000020.11:g.32434672G>A	TOPMed
ASXL1	Q8IXJ9	p.Thr655Ala	rs776979634	missense variant	-	NC_000020.11:g.32434675A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp656Asn	rs765459479	missense variant	-	NC_000020.11:g.32434678G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser663Asn	rs763013543	missense variant	-	NC_000020.11:g.32434700G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser663Gly	rs775538653	missense variant	-	NC_000020.11:g.32434699A>G	ExAC
ASXL1	Q8IXJ9	p.Ser665Asn	rs963788591	missense variant	-	NC_000020.11:g.32434706G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser665Thr	rs963788591	missense variant	-	NC_000020.11:g.32434706G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly666Cys	rs973698132	missense variant	-	NC_000020.11:g.32434708G>T	TOPMed
ASXL1	Q8IXJ9	p.Asp667Asn	rs763933091	missense variant	-	NC_000020.11:g.32434711G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly669Ser	rs751323580	missense variant	-	NC_000020.11:g.32434717G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly669Asp	rs756863234	missense variant	-	NC_000020.11:g.32434718G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala671Gly	rs1270407759	missense variant	-	NC_000020.11:g.32434724C>G	gnomAD
ASXL1	Q8IXJ9	p.Cys672Tyr	rs1284133354	missense variant	-	NC_000020.11:g.32434727G>A	TOPMed
ASXL1	Q8IXJ9	p.His674Tyr	rs750146260	missense variant	-	NC_000020.11:g.32434732C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu676Lys	rs1026621329	missense variant	-	NC_000020.11:g.32434738G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly680Val	rs375968114	missense variant	-	NC_000020.11:g.32434751G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly680Asp	rs375968114	missense variant	-	NC_000020.11:g.32434751G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr683Ala	rs1245899583	missense variant	-	NC_000020.11:g.32434759A>G	gnomAD
ASXL1	Q8IXJ9	p.Pro684Leu	rs758924265	missense variant	-	NC_000020.11:g.32434763C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly685Arg	rs369152088	missense variant	-	NC_000020.11:g.32434765G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys686Arg	rs1323571527	missense variant	-	NC_000020.11:g.32434769A>G	TOPMed
ASXL1	Q8IXJ9	p.Cys687Tyr	rs142450571	missense variant	-	NC_000020.11:g.32434772G>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys687Ter	rs1160049111	stop gained	-	NC_000020.11:g.32434773T>A	TOPMed
ASXL1	Q8IXJ9	p.Cys687Gly	rs140197482	missense variant	-	NC_000020.11:g.32434771T>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys687Arg	rs140197482	missense variant	-	NC_000020.11:g.32434771T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr688Met	rs375094000	missense variant	-	NC_000020.11:g.32434775C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser689Ter	rs1387681483	stop gained	-	NC_000020.11:g.32434778C>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser689Ter	rs1387681483	stop gained	-	NC_000020.11:g.32434778C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln692Ter	rs1478929932	stop gained	-	NC_000020.11:g.32434786C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg693Ter	RCV000760645	nonsense	-	NC_000020.11:g.32434789C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg693Ter	rs373221034	stop gained	-	NC_000020.11:g.32434789C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro698Ser	rs1324197580	missense variant	-	NC_000020.11:g.32434804C>T	gnomAD
ASXL1	Q8IXJ9	p.Tyr700Ter	rs1261178797	stop gained	-	NC_000020.11:g.32434812T>A	TOPMed
ASXL1	Q8IXJ9	p.Tyr700Ter	RCV000660864	nonsense	Myelodysplasia	NC_000020.11:g.32434812T>A	ClinVar
ASXL1	Q8IXJ9	p.Tyr700Cys	rs1266159630	missense variant	-	NC_000020.11:g.32434811A>G	gnomAD
ASXL1	Q8IXJ9	p.Asn703Ser	rs764131486	missense variant	-	NC_000020.11:g.32434820A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly704Arg	rs151317625	missense variant	-	NC_000020.11:g.32434822G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly704Arg	rs151317625	missense variant	-	NC_000020.11:g.32434822G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly704Trp	rs151317625	missense variant	-	NC_000020.11:g.32434822G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly704Arg	RCV000382802	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434822G>A	ClinVar
ASXL1	Q8IXJ9	p.His706Arg	rs1054427525	missense variant	-	NC_000020.11:g.32434829A>G	TOPMed
ASXL1	Q8IXJ9	p.Gln708Ter	rs755789372	stop gained	-	NC_000020.11:g.32434834C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala709Ser	rs868859861	missense variant	-	NC_000020.11:g.32434837G>T	gnomAD
ASXL1	Q8IXJ9	p.Ala709Thr	rs868859861	missense variant	-	NC_000020.11:g.32434837G>A	gnomAD
ASXL1	Q8IXJ9	p.Met713Ile	rs765820800	missense variant	-	NC_000020.11:g.32434851G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met713Val	rs1269615976	missense variant	-	NC_000020.11:g.32434849A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala716Val	rs1366033786	missense variant	-	NC_000020.11:g.32434859C>T	gnomAD
ASXL1	Q8IXJ9	p.Arg717Ser	rs1337715441	missense variant	-	NC_000020.11:g.32434863G>C	TOPMed
ASXL1	Q8IXJ9	p.Arg718Lys	rs754554150	missense variant	-	NC_000020.11:g.32434865G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg718Gly	rs1158922559	missense variant	-	NC_000020.11:g.32434864A>G	gnomAD
ASXL1	Q8IXJ9	p.Arg725Lys	rs781644673	missense variant	-	NC_000020.11:g.32434886G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg725Ter	rs757533853	stop gained	-	NC_000020.11:g.32434885A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys726Arg	rs1239535844	missense variant	-	NC_000020.11:g.32434889A>G	gnomAD
ASXL1	Q8IXJ9	p.Lys726Ter	rs1415948169	stop gained	-	NC_000020.11:g.32434888A>T	TOPMed
ASXL1	Q8IXJ9	p.Glu727Ter	rs1264581343	stop gained	-	NC_000020.11:g.32434891G>T	gnomAD
ASXL1	Q8IXJ9	p.Glu727Gln	rs1264581343	missense variant	-	NC_000020.11:g.32434891G>C	gnomAD
ASXL1	Q8IXJ9	p.Leu731Arg	rs1292764187	missense variant	-	NC_000020.11:g.32434904T>G	gnomAD
ASXL1	Q8IXJ9	p.Leu732Pro	rs770152895	missense variant	-	NC_000020.11:g.32434907T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln733Ter	RCV000023980	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32434909C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln733Ter	rs387907078	stop gained	-	NC_000020.11:g.32434909C>T	ExAC
ASXL1	Q8IXJ9	p.Gln733Leu	rs370211132	missense variant	-	NC_000020.11:g.32434910A>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln733His	rs768911270	missense variant	-	NC_000020.11:g.32434911G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg734Gly	rs774130477	missense variant	-	NC_000020.11:g.32434912A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr736Ile	rs1392100102	missense variant	-	NC_000020.11:g.32434919C>T	gnomAD
ASXL1	Q8IXJ9	p.Val737Ala	rs761847705	missense variant	-	NC_000020.11:g.32434922T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly738Ter	rs1165142818	stop gained	-	NC_000020.11:g.32434924G>T	gnomAD
ASXL1	Q8IXJ9	p.Leu739Ile	rs771719149	missense variant	-	NC_000020.11:g.32434927C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr740Ile	rs773075570	missense variant	-	NC_000020.11:g.32434931C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp741Val	rs149971443	missense variant	-	NC_000020.11:g.32434934A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly742Trp	rs1375465937	missense variant	-	NC_000020.11:g.32434936G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly744Ter	rs1311916988	stop gained	-	NC_000020.11:g.32434942G>T	gnomAD
ASXL1	Q8IXJ9	p.Ala746Val	rs764844021	missense variant	-	NC_000020.11:g.32434949C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala746Thr	rs759026497	missense variant	-	NC_000020.11:g.32434948G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln748Ter	rs1202551247	stop gained	-	NC_000020.11:g.32434954C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro750Ser	rs1218506765	missense variant	-	NC_000020.11:g.32434960C>T	TOPMed
ASXL1	Q8IXJ9	p.Val751Ile	rs6058693	missense variant	-	NC_000020.11:g.32434963G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val751Ile	RCV000284499	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32434963G>A	ClinVar
ASXL1	Q8IXJ9	p.Val751Phe	rs6058693	missense variant	-	NC_000020.11:g.32434963G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr754Ser	rs1184551610	missense variant	-	NC_000020.11:g.32434973C>G	gnomAD
ASXL1	Q8IXJ9	p.Thr754Ala	rs749566656	missense variant	-	NC_000020.11:g.32434972A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr754Ser	rs749566656	missense variant	-	NC_000020.11:g.32434972A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp756Ala	rs768821774	missense variant	-	NC_000020.11:g.32434979A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln757Ter	rs779078826	stop gained	-	NC_000020.11:g.32434981C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln760Ter	rs1167715259	stop gained	-	NC_000020.11:g.32434990C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala761Thr	rs146052718	missense variant	-	NC_000020.11:g.32434993G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu765Pro	rs1171138318	missense variant	-	NC_000020.11:g.32435006T>C	TOPMed
ASXL1	Q8IXJ9	p.Ser766Phe	rs1364748695	missense variant	-	NC_000020.11:g.32435009C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser767Tyr	rs376999466	missense variant	-	NC_000020.11:g.32435012C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln768Ter	rs770762273	stop gained	-	NC_000020.11:g.32435014C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr769Ile	rs1308210159	missense variant	-	NC_000020.11:g.32435018C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser770Ter	rs776235263	stop gained	-	NC_000020.11:g.32435021C>A	ExAC
ASXL1	Q8IXJ9	p.Ala772Thr	rs1261856158	missense variant	-	NC_000020.11:g.32435026G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala772Pro	rs1261856158	missense variant	-	NC_000020.11:g.32435026G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala772Val	rs1463010740	missense variant	-	NC_000020.11:g.32435027C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu773Ter	rs759218892	stop gained	-	NC_000020.11:g.32435029G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu773Gln	rs759218892	missense variant	-	NC_000020.11:g.32435029G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg774Gly	rs764604832	missense variant	-	NC_000020.11:g.32435032A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu775Ter	rs752263134	stop gained	-	NC_000020.11:g.32435036T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu775Ter	rs752263134	stop gained	-	NC_000020.11:g.32435036T>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro779Leu	rs41289850	missense variant	-	NC_000020.11:g.32435048C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln780Ter	rs751021760	stop gained	-	NC_000020.11:g.32435050C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro783Leu	rs375321203	missense variant	-	NC_000020.11:g.32435060C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro783Ala	rs1320557612	missense variant	-	NC_000020.11:g.32435059C>G	TOPMed
ASXL1	Q8IXJ9	p.Asp784Asn	rs780602254	missense variant	-	NC_000020.11:g.32435062G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg786Lys	rs754070978	missense variant	-	NC_000020.11:g.32435069G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr787Asn	rs1290901944	missense variant	-	NC_000020.11:g.32435072C>A	gnomAD
ASXL1	Q8IXJ9	p.Thr787Ala	rs755243804	missense variant	-	NC_000020.11:g.32435071A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu788Ter	rs1402270258	stop gained	-	NC_000020.11:g.32435074G>T	TOPMed
ASXL1	Q8IXJ9	p.Cys789Trp	rs1163284834	missense variant	-	NC_000020.11:g.32435079T>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys789Tyr	rs1386308534	missense variant	-	NC_000020.11:g.32435078G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu790Ter	RCV000722668	nonsense	-	NC_000020.11:g.32435079dup	ClinVar
ASXL1	Q8IXJ9	p.Glu790Lys	rs748259651	missense variant	-	NC_000020.11:g.32435080G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly792Ala	rs377589713	missense variant	-	NC_000020.11:g.32435087G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr794Ala	rs777666293	missense variant	-	NC_000020.11:g.32435092A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser795Phe	rs746990403	missense variant	-	NC_000020.11:g.32435096C>T	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Trp796Ter	rs770674396	stop gained	-	NC_000020.11:g.32435099G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp796Ser	rs770674396	missense variant	-	NC_000020.11:g.32435099G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp796Ser	RCV000396645	missense variant	-	NC_000020.11:g.32435099G>C	ClinVar
ASXL1	Q8IXJ9	p.Ser798Gly	rs148047779	missense variant	-	NC_000020.11:g.32435104A>G	ESP
ASXL1	Q8IXJ9	p.Asp799Tyr	rs143594454	missense variant	-	NC_000020.11:g.32435107G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp799Tyr	RCV000120107	missense variant	-	NC_000020.11:g.32435107G>T	ClinVar
ASXL1	Q8IXJ9	p.Asp800Glu	rs1178321509	missense variant	-	NC_000020.11:g.32435112T>G	TOPMed
ASXL1	Q8IXJ9	p.Glu801Val	rs769490912	missense variant	-	NC_000020.11:g.32435114A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln803Ter	rs775071544	stop gained	-	NC_000020.11:g.32435119C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro805Thr	rs370929899	missense variant	-	NC_000020.11:g.32435125C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr806Pro	rs763556409	missense variant	-	NC_000020.11:g.32435128A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr806Ile	rs775227254	missense variant	-	NC_000020.11:g.32435129C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val807Ile	RCV000297894	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435131G>A	ClinVar
ASXL1	Q8IXJ9	p.Val807Ala	rs1223133675	missense variant	-	NC_000020.11:g.32435132T>C	TOPMed
ASXL1	Q8IXJ9	p.Val807Ile	rs138624526	missense variant	-	NC_000020.11:g.32435131G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808Leu	rs141610022	missense variant	-	NC_000020.11:g.32435135C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808Ala	rs368640734	missense variant	-	NC_000020.11:g.32435134C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808His	rs141610022	missense variant	-	NC_000020.11:g.32435135C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro808Ser	rs368640734	missense variant	-	NC_000020.11:g.32435134C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp810Gly	rs765488094	missense variant	-	NC_000020.11:g.32435141A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn811Asp	rs752916428	missense variant	-	NC_000020.11:g.32435143A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn811Ser	RCV000336523	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435144A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn811Ser	rs758473430	missense variant	-	NC_000020.11:g.32435144A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro813Leu	rs1386086869	missense variant	-	NC_000020.11:g.32435150C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro813Ser	rs1307463870	missense variant	-	NC_000020.11:g.32435149C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro815Leu	rs6058694	missense variant	-	NC_000020.11:g.32435156C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp820Val	rs1285319437	missense variant	-	NC_000020.11:g.32435171A>T	gnomAD
ASXL1	Q8IXJ9	p.Asp820Asn	rs757201886	missense variant	-	NC_000020.11:g.32435170G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp821Asn	rs1366325013	missense variant	-	NC_000020.11:g.32435173G>A	TOPMed
ASXL1	Q8IXJ9	p.Asp821Gly	rs780896078	missense variant	-	NC_000020.11:g.32435174A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu823Ser	rs140139096	missense variant	-	NC_000020.11:g.32435180T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu824Gln	rs532964069	missense variant	-	NC_000020.11:g.32435182G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu824Gly	rs775181549	missense variant	-	NC_000020.11:g.32435183A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys825Ile	rs748929407	missense variant	-	NC_000020.11:g.32435186A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly826Ter	RCV000479943	frameshift	-	NC_000020.11:g.32435189del	ClinVar
ASXL1	Q8IXJ9	p.Gly826Ter	rs774018728	stop gained	-	NC_000020.11:g.32435188G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly828Asp	rs372805894	missense variant	-	NC_000020.11:g.32435195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu831Phe	rs777338946	missense variant	-	NC_000020.11:g.32435203C>T	ExAC
ASXL1	Q8IXJ9	p.Asp832Ter	RCV000723267	frameshift	-	NC_000020.11:g.32435207_32435210del	ClinVar
ASXL1	Q8IXJ9	p.Asp832Gly	rs759926643	missense variant	-	NC_000020.11:g.32435207A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser833Asn	rs765560488	missense variant	-	NC_000020.11:g.32435210G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr836Ala	rs373580114	missense variant	-	NC_000020.11:g.32435218A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr836Pro	rs373580114	missense variant	-	NC_000020.11:g.32435218A>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met837Thr	rs1353280422	missense variant	-	NC_000020.11:g.32435222T>C	gnomAD
ASXL1	Q8IXJ9	p.Lys838Arg	RCV000437602	missense variant	-	NC_000020.11:g.32435225A>G	ClinVar
ASXL1	Q8IXJ9	p.Lys838Asn	rs763660723	missense variant	-	NC_000020.11:g.32435226G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys838Arg	rs35632616	missense variant	-	NC_000020.11:g.32435225A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val841Ala	rs751641574	missense variant	-	NC_000020.11:g.32435234T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn842Ser	rs367751731	missense variant	-	NC_000020.11:g.32435237A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val843Ala	rs750376029	missense variant	-	NC_000020.11:g.32435240T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser846Asn	rs148575778	missense variant	-	NC_000020.11:g.32435249G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser846Arg	rs1233368049	missense variant	-	NC_000020.11:g.32435248A>C	gnomAD
ASXL1	Q8IXJ9	p.Ser851Phe	rs1167411017	missense variant	-	NC_000020.11:g.32435264C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser852Leu	rs371542005	missense variant	-	NC_000020.11:g.32435267C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro853Leu	rs147666865	missense variant	-	NC_000020.11:g.32435270C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys856Ter	rs140851370	stop gained	-	NC_000020.11:g.32435280C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln858Arg	rs1429658374	missense variant	-	NC_000020.11:g.32435285A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala861Ser	rs1170492819	missense variant	-	NC_000020.11:g.32435293G>T	gnomAD
ASXL1	Q8IXJ9	p.Asp863Gly	rs764294559	missense variant	-	NC_000020.11:g.32435300A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu865Ter	rs147895689	stop gained	-	NC_000020.11:g.32435305G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu865Lys	rs147895689	missense variant	-	NC_000020.11:g.32435305G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu865Asp	rs767625019	missense variant	-	NC_000020.11:g.32435307A>T	ExAC
ASXL1	Q8IXJ9	p.Leu868Arg	rs1448291477	missense variant	-	NC_000020.11:g.32435315T>G	TOPMed
ASXL1	Q8IXJ9	p.Cys872Trp	rs779837740	missense variant	-	NC_000020.11:g.32435328C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro873Leu	rs202098158	missense variant	-	NC_000020.11:g.32435330C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro873Ser	rs932939917	missense variant	-	NC_000020.11:g.32435329C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro874Ser	rs778687016	missense variant	-	NC_000020.11:g.32435332C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met875Val	rs747843845	missense variant	-	NC_000020.11:g.32435335A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met875Arg	rs1482135728	missense variant	-	NC_000020.11:g.32435336T>G	TOPMed
ASXL1	Q8IXJ9	p.Glu877Ala	rs771673303	missense variant	-	NC_000020.11:g.32435342A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser878Gly	rs1168526965	missense variant	-	NC_000020.11:g.32435344A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser878Arg	rs777174656	missense variant	-	NC_000020.11:g.32435346T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg881Ter	rs746330612	stop gained	-	NC_000020.11:g.32435353A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln882Ter	rs770209084	stop gained	-	NC_000020.11:g.32435356C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys888Glu	rs1317256185	missense variant	-	NC_000020.11:g.32435374A>G	gnomAD
ASXL1	Q8IXJ9	p.Ala889Thr	rs763287860	missense variant	-	NC_000020.11:g.32435377G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val891Ile	rs774520876	missense variant	-	NC_000020.11:g.32435383G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser892Pro	rs1339444705	missense variant	-	NC_000020.11:g.32435386T>C	gnomAD
ASXL1	Q8IXJ9	p.Asn893Thr	rs762053816	missense variant	-	NC_000020.11:g.32435390A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser895Cys	rs767583580	missense variant	-	NC_000020.11:g.32435396C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu896Ser	rs1204296403	missense variant	-	NC_000020.11:g.32435399T>C	gnomAD
ASXL1	Q8IXJ9	p.His897Arg	rs750481621	missense variant	-	NC_000020.11:g.32435402A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp898Ter	rs760592730	stop gained	-	NC_000020.11:g.32435406G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp898Cys	rs760592730	missense variant	-	NC_000020.11:g.32435406G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile899Thr	rs766215027	missense variant	-	NC_000020.11:g.32435408T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile901Ser	rs753864486	missense variant	-	NC_000020.11:g.32435414T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile901Thr	rs753864486	missense variant	-	NC_000020.11:g.32435414T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro902Gln	rs886848485	missense variant	-	NC_000020.11:g.32435417C>A	TOPMed
ASXL1	Q8IXJ9	p.Ser903Leu	rs754790367	missense variant	-	NC_000020.11:g.32435420C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn904Ser	rs765155567	missense variant	-	NC_000020.11:g.32435423A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp905Val	rs758140687	missense variant	-	NC_000020.11:g.32435426A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp905Gly	rs758140687	missense variant	-	NC_000020.11:g.32435426A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp905His	rs752352233	missense variant	-	NC_000020.11:g.32435425G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu906Ter	rs1402018333	stop gained	-	NC_000020.11:g.32435428G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu906Gln	rs1402018333	missense variant	-	NC_000020.11:g.32435428G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val907Ile	rs201990697	missense variant	-	NC_000020.11:g.32435431G>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro911Leu	rs780400187	missense variant	-	NC_000020.11:g.32435444C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro911Ser	rs371903529	missense variant	-	NC_000020.11:g.32435443C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys912Ter	rs749831576	stop gained	-	NC_000020.11:g.32435446A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu914Gly	rs1046040722	missense variant	-	NC_000020.11:g.32435453A>G	TOPMed
ASXL1	Q8IXJ9	p.Ile919Thr	rs549809573	missense variant	-	NC_000020.11:g.32435468T>C	1000Genomes,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Ser921Pro	rs1457205853	missense variant	-	NC_000020.11:g.32435473T>C	TOPMed
ASXL1	Q8IXJ9	p.Val922Ter	RCV000623209	frameshift	Inborn genetic diseases	NC_000020.11:g.32435475_32435482delinsCAA	ClinVar
ASXL1	Q8IXJ9	p.Pro924Ala	rs772187243	missense variant	-	NC_000020.11:g.32435482C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln925Ter	RCV000023976	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435485C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln925Ter	rs387907077	stop gained	-	NC_000020.11:g.32435485C>T	-
ASXL1	Q8IXJ9	p.Gln925His	rs1201635933	missense variant	-	NC_000020.11:g.32435487G>C	gnomAD
ASXL1	Q8IXJ9	p.Val926Ile	rs150338765	missense variant	-	NC_000020.11:g.32435488G>A	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val926Leu	rs150338765	missense variant	-	NC_000020.11:g.32435488G>C	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly927Arg	rs1270268473	missense variant	-	NC_000020.11:g.32435491G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu928Gly	rs1418949221	missense variant	-	NC_000020.11:g.32435495A>G	gnomAD
ASXL1	Q8IXJ9	p.Trp930Ter	RCV000760833	nonsense	-	NC_000020.11:g.32435502G>A	ClinVar
ASXL1	Q8IXJ9	p.Glu931Ter	RCV000623598	frameshift	Inborn genetic diseases	NC_000020.11:g.32435503del	ClinVar
ASXL1	Q8IXJ9	p.Lys932Asn	rs886056600	missense variant	-	NC_000020.11:g.32435508A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala934Ser	rs773543958	missense variant	-	NC_000020.11:g.32435512G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro937Ter	RCV000481700	frameshift	-	NC_000020.11:g.32435522del	ClinVar
ASXL1	Q8IXJ9	p.Leu940Val	rs1422246990	missense variant	-	NC_000020.11:g.32435530T>G	gnomAD
ASXL1	Q8IXJ9	p.Thr945Ile	rs1391377712	missense variant	-	NC_000020.11:g.32435546C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu947Gly	rs776670551	missense variant	-	NC_000020.11:g.32435552A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu948Lys	rs1173257390	missense variant	-	NC_000020.11:g.32435554G>A	gnomAD
ASXL1	Q8IXJ9	p.Asp951Asn	rs1021817273	missense variant	-	NC_000020.11:g.32435563G>A	TOPMed
ASXL1	Q8IXJ9	p.Asp951Gly	rs1162142245	missense variant	-	NC_000020.11:g.32435564A>G	TOPMed
ASXL1	Q8IXJ9	p.Pro952Ala	rs1337364512	missense variant	-	NC_000020.11:g.32435566C>G	gnomAD
ASXL1	Q8IXJ9	p.Leu953Phe	rs759572953	missense variant	-	NC_000020.11:g.32435569C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp954Glu	rs752471895	missense variant	-	NC_000020.11:g.32435574C>A	TOPMed
ASXL1	Q8IXJ9	p.Ser955Gly	rs369771079	missense variant	-	NC_000020.11:g.32435575A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser955Ile	rs752548239	missense variant	-	NC_000020.11:g.32435576G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu956Val	rs1236179195	missense variant	-	NC_000020.11:g.32435578C>G	TOPMed
ASXL1	Q8IXJ9	p.Thr957Ala	rs1266042922	missense variant	-	NC_000020.11:g.32435581A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr957Pro	rs1266042922	missense variant	-	NC_000020.11:g.32435581A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser958Leu	rs763638795	missense variant	-	NC_000020.11:g.32435585C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu959His	rs751271712	missense variant	-	NC_000020.11:g.32435588T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Trp960Ter	rs756688220	stop gained	-	NC_000020.11:g.32435592G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Trp960Ter	rs1438791925	stop gained	-	NC_000020.11:g.32435591G>A	gnomAD
ASXL1	Q8IXJ9	p.Val962Ala	rs1442331965	missense variant	-	NC_000020.11:g.32435597T>C	gnomAD
ASXL1	Q8IXJ9	p.Pro963Leu	rs1164938216	missense variant	-	NC_000020.11:g.32435600C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser964Phe	rs749746806	missense variant	-	NC_000020.11:g.32435603C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg965Ter	RCV000255108	nonsense	-	NC_000020.11:g.32435605C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg965Ter	RCV000032665	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435605C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg965Ter	rs397515401	stop gained	-	NC_000020.11:g.32435605C>T	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Asp969Asn	rs1461025360	missense variant	-	NC_000020.11:g.32435617G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser970Gly	RCV000309886	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435620A>G	ClinVar
ASXL1	Q8IXJ9	p.Ser970Gly	rs886056601	missense variant	-	NC_000020.11:g.32435620A>G	TOPMed
ASXL1	Q8IXJ9	p.Asn971Ser	rs779180512	missense variant	-	NC_000020.11:g.32435624A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn971Lys	rs199785280	missense variant	-	NC_000020.11:g.32435625T>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly972Val	rs748505783	missense variant	-	NC_000020.11:g.32435627G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser973Asn	rs773277713	missense variant	-	NC_000020.11:g.32435630G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser973Gly	rs772538894	missense variant	-	NC_000020.11:g.32435629A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Tyr974Ter	RCV000255194	nonsense	-	NC_000020.11:g.32435634C>A	ClinVar
ASXL1	Q8IXJ9	p.Tyr974His	rs747287523	missense variant	-	NC_000020.11:g.32435632T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Tyr974Ter	rs886039722	stop gained	-	NC_000020.11:g.32435634C>A	-
ASXL1	Q8IXJ9	p.Gln976Ter	rs776868653	stop gained	-	NC_000020.11:g.32435638C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln976Glu	rs776868653	missense variant	-	NC_000020.11:g.32435638C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln977Ter	rs1366953593	stop gained	-	NC_000020.11:g.32435641C>T	TOPMed
ASXL1	Q8IXJ9	p.Ile980Val	rs765264117	missense variant	-	NC_000020.11:g.32435650A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile980Asn	rs775628738	missense variant	-	NC_000020.11:g.32435651T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu981Gly	rs763987748	missense variant	-	NC_000020.11:g.32435654A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu981Lys	rs762630959	missense variant	-	NC_000020.11:g.32435653G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys982Ter	rs1462930926	stop gained	-	NC_000020.11:g.32435656A>T	gnomAD
ASXL1	Q8IXJ9	p.Lys984Ile	rs1183288483	missense variant	-	NC_000020.11:g.32435663A>T	gnomAD
ASXL1	Q8IXJ9	p.Asn986Ser	rs145132837	missense variant	-	NC_000020.11:g.32435669A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn986Ser	RCV000362320	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435669A>G	ClinVar
ASXL1	Q8IXJ9	p.Gly987Arg	rs376074119	missense variant	-	NC_000020.11:g.32435671G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp988Glu	rs749938743	missense variant	-	NC_000020.11:g.32435676C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp988Ter	RCV000481961	nonsense	-	NC_000020.11:g.32435676_32435677CT[1]	ClinVar
ASXL1	Q8IXJ9	p.Ser989Phe	rs1362999533	missense variant	-	NC_000020.11:g.32435678C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser993Asn	rs1226960123	missense variant	-	NC_000020.11:g.32435690G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro994Leu	rs779372602	missense variant	-	NC_000020.11:g.32435693C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly996Ser	rs1297740523	missense variant	-	NC_000020.11:g.32435698G>A	gnomAD
ASXL1	Q8IXJ9	p.Glu997Lys	rs786205552	missense variant	-	NC_000020.11:g.32435701G>A	TOPMed
ASXL1	Q8IXJ9	p.Glu997Gln	RCV000171345	missense variant	-	NC_000020.11:g.32435701G>C	ClinVar
ASXL1	Q8IXJ9	p.Glu997Gln	rs786205552	missense variant	-	NC_000020.11:g.32435701G>C	TOPMed
ASXL1	Q8IXJ9	p.Ser998Thr	rs758650315	missense variant	-	NC_000020.11:g.32435704T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr999Met	rs778222400	missense variant	-	NC_000020.11:g.32435708C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1000Gly	rs781631529	missense variant	-	NC_000020.11:g.32435711A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1000His	rs771192600	missense variant	-	NC_000020.11:g.32435710G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1000Val	rs781631529	missense variant	-	NC_000020.11:g.32435711A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1001Ala	rs1217127877	missense variant	-	NC_000020.11:g.32435713A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1003Ala	rs1222268104	missense variant	-	NC_000020.11:g.32435719T>G	TOPMed
ASXL1	Q8IXJ9	p.Thr1010Met	rs116112525	missense variant	-	NC_000020.11:g.32435741C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1010Met	RCV000322609	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435741C>T	ClinVar
ASXL1	Q8IXJ9	p.Thr1010Arg	rs116112525	missense variant	-	NC_000020.11:g.32435741C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1014Thr	rs762976045	missense variant	-	NC_000020.11:g.32435753G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1014Asn	rs762976045	missense variant	-	NC_000020.11:g.32435753G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1014Arg	rs1358222587	missense variant	-	NC_000020.11:g.32435752A>C	TOPMed
ASXL1	Q8IXJ9	p.Glu1015Gly	rs774209416	missense variant	-	NC_000020.11:g.32435756A>G	ExAC
ASXL1	Q8IXJ9	p.Ala1016GlnTer	RCV000483005	nonsense	-	NC_000020.11:g.32435751_32435757dup	ClinVar
ASXL1	Q8IXJ9	p.Ala1016Val	rs1470848941	missense variant	-	NC_000020.11:g.32435759C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1017His	rs1465626973	missense variant	-	NC_000020.11:g.32435761G>C	gnomAD
ASXL1	Q8IXJ9	p.Asp1017Ala	rs545071926	missense variant	-	NC_000020.11:g.32435762A>C	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1018Pro	rs560170731	missense variant	-	NC_000020.11:g.32435764A>C	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1018Ser	rs560170731	missense variant	-	NC_000020.11:g.32435764A>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1019Ser	rs1451811723	missense variant	-	NC_000020.11:g.32435769A>C	gnomAD
ASXL1	Q8IXJ9	p.Arg1019Gly	rs760148910	missense variant	-	NC_000020.11:g.32435767A>G	ExAC
ASXL1	Q8IXJ9	p.Glu1020Lys	rs765907136	missense variant	-	NC_000020.11:g.32435770G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1022Val	rs1170698088	missense variant	-	NC_000020.11:g.32435777C>T	TOPMed
ASXL1	Q8IXJ9	p.Lys1025Thr	rs1341269354	missense variant	-	NC_000020.11:g.32435786A>C	gnomAD
ASXL1	Q8IXJ9	p.Ser1028Leu	RCV000120095	missense variant	-	NC_000020.11:g.32435795C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1028Leu	rs200702600	missense variant	-	NC_000020.11:g.32435795C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1028Ter	rs200702600	stop gained	-	NC_000020.11:g.32435795C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1028Ala	rs1046578139	missense variant	-	NC_000020.11:g.32435794T>G	TOPMed
ASXL1	Q8IXJ9	p.Ser1028Ter	RCV000023978	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435795C>A	ClinVar
ASXL1	Q8IXJ9	p.Asp1030Gly	rs758957849	missense variant	-	NC_000020.11:g.32435801A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1032Ala	rs377541442	missense variant	-	NC_000020.11:g.32435807A>C	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1033Val	rs192330235	missense variant	-	NC_000020.11:g.32435810A>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1034Asn	rs751952846	missense variant	-	NC_000020.11:g.32435814A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1036Ser	rs757758145	missense variant	-	NC_000020.11:g.32435819A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1036Lys	rs781544629	missense variant	-	NC_000020.11:g.32435820T>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Trp1037Ter	rs1555912419	stop gained	-	NC_000020.11:g.32435823G>A	-
ASXL1	Q8IXJ9	p.Trp1037Ter	RCV000622812	nonsense	Inborn genetic diseases	NC_000020.11:g.32435823G>A	ClinVar
ASXL1	Q8IXJ9	p.Gln1039Ter	rs1221031683	stop gained	-	NC_000020.11:g.32435827C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala1041Val	rs769951435	missense variant	-	NC_000020.11:g.32435834C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1044Cys	rs1191559798	missense variant	-	NC_000020.11:g.32435843C>G	gnomAD
ASXL1	Q8IXJ9	p.Lys1045Arg	rs780299749	missense variant	-	NC_000020.11:g.32435846A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1046Ala	rs749118360	missense variant	-	NC_000020.11:g.32435849T>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1046Met	rs1417067472	missense variant	-	NC_000020.11:g.32435848G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly1048Ser	rs1361367953	missense variant	-	NC_000020.11:g.32435854G>A	gnomAD
ASXL1	Q8IXJ9	p.Asp1049Ter	RCV000255751	frameshift	-	NC_000020.11:g.32435856_32435857del	ClinVar
ASXL1	Q8IXJ9	p.Met1050Val	rs370804022	missense variant	-	NC_000020.11:g.32435860A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1050Thr	rs374141406	missense variant	-	NC_000020.11:g.32435861T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1051Cys	rs768333722	missense variant	-	NC_000020.11:g.32435863C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1051His	rs771896604	missense variant	-	NC_000020.11:g.32435864G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1051Ser	rs768333722	missense variant	-	NC_000020.11:g.32435863C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1057Glu	rs772813587	missense variant	-	NC_000020.11:g.32435883T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1058Arg	rs760343023	missense variant	-	NC_000020.11:g.32435884G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1060Ile	rs138521991	missense variant	-	NC_000020.11:g.32435890G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1062Ser	rs776213974	missense variant	-	NC_000020.11:g.32435896C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1063Ter	rs1311033207	stop gained	-	NC_000020.11:g.32435899C>T	gnomAD
ASXL1	Q8IXJ9	p.Trp1065Arg	rs1353911031	missense variant	-	NC_000020.11:g.32435905T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1067Phe	rs759039831	missense variant	-	NC_000020.11:g.32435912C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1068Ter	RCV000655943	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32435914C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg1068Ter	rs764651405	stop gained	-	NC_000020.11:g.32435914C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1068Gln	rs752058283	missense variant	-	NC_000020.11:g.32435915G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1069Ile	rs560992020	missense variant	-	NC_000020.11:g.32435917G>A	1000Genomes,ExAC
ASXL1	Q8IXJ9	p.Cys1070Tyr	rs1222290644	missense variant	-	NC_000020.11:g.32435921G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1071Val	RCV000361222	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32435924C>T	ClinVar
ASXL1	Q8IXJ9	p.Ala1071Thr	rs768022784	missense variant	-	NC_000020.11:g.32435923G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1071Val	rs531415735	missense variant	-	NC_000020.11:g.32435924C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1072Asp	rs779930291	missense variant	-	NC_000020.11:g.32435927T>A	ExAC
ASXL1	Q8IXJ9	p.Arg1073Ser	rs549552934	missense variant	-	NC_000020.11:g.32435929C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1073Cys	rs549552934	missense variant	-	NC_000020.11:g.32435929C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1073Pro	rs1444168328	missense variant	-	NC_000020.11:g.32435930G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1073His	rs1444168328	missense variant	-	NC_000020.11:g.32435930G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1077Ser	rs1161902700	missense variant	-	NC_000020.11:g.32435941C>T	gnomAD
ASXL1	Q8IXJ9	p.Asp1078Tyr	rs1416128377	missense variant	-	NC_000020.11:g.32435944G>T	gnomAD
ASXL1	Q8IXJ9	p.Ser1079Pro	rs778886643	missense variant	-	NC_000020.11:g.32435947T>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1089Ser	rs1237208885	missense variant	-	NC_000020.11:g.32435977C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1089Leu	rs1182142498	missense variant	-	NC_000020.11:g.32435978C>T	TOPMed
ASXL1	Q8IXJ9	p.Val1092Met	rs771806916	missense variant	-	NC_000020.11:g.32435986G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1095Cys	rs746598633	missense variant	-	NC_000020.11:g.32435996C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1096Ile	rs1305212991	missense variant	-	NC_000020.11:g.32436000G>T	TOPMed
ASXL1	Q8IXJ9	p.Met1096Val	rs770570065	missense variant	-	NC_000020.11:g.32435998A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1097Leu	rs1274527593	missense variant	-	NC_000020.11:g.32436002C>T	TOPMed
ASXL1	Q8IXJ9	p.Glu1102Asp	rs139115934	missense variant	-	NC_000020.11:g.32436018G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1102Asp	RCV000120108	missense variant	-	NC_000020.11:g.32436018G>T	ClinVar
ASXL1	Q8IXJ9	p.Thr1104Ser	rs759066149	missense variant	-	NC_000020.11:g.32436023C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1104Ala	rs952607481	missense variant	-	NC_000020.11:g.32436022A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1105Tyr	rs764696313	missense variant	-	NC_000020.11:g.32436025A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1108Ala	rs1454365420	missense variant	-	NC_000020.11:g.32436035T>C	TOPMed
ASXL1	Q8IXJ9	p.Val1108Met	rs1182034797	missense variant	-	NC_000020.11:g.32436034G>A	gnomAD
ASXL1	Q8IXJ9	p.Met1109Ile	rs750818466	missense variant	-	NC_000020.11:g.32436039G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1109Thr	rs767930961	missense variant	-	NC_000020.11:g.32436038T>C	ExAC
ASXL1	Q8IXJ9	p.Met1109Val	rs1239404668	missense variant	-	NC_000020.11:g.32436037A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1110Glu	rs756612309	missense variant	-	NC_000020.11:g.32436040C>G	ExAC
ASXL1	Q8IXJ9	p.Leu1112Met	rs370068525	missense variant	-	NC_000020.11:g.32436046C>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1115Asn	rs1418007201	missense variant	-	NC_000020.11:g.32436056G>A	gnomAD
ASXL1	Q8IXJ9	p.Pro1117Ser	rs1172005201	missense variant	-	NC_000020.11:g.32436061C>T	gnomAD
ASXL1	Q8IXJ9	p.Glu1119Asp	rs1450882082	missense variant	-	NC_000020.11:g.32436069G>C	gnomAD
ASXL1	Q8IXJ9	p.Lys1120Met	rs778883995	missense variant	-	NC_000020.11:g.32436071A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1121Ile	rs961492113	missense variant	-	NC_000020.11:g.32436073G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1123Leu	rs11549643	missense variant	-	NC_000020.11:g.32436080C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1124Leu	rs777758375	missense variant	-	NC_000020.11:g.32436083C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1124Ser	rs758338148	missense variant	-	NC_000020.11:g.32436082C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1125Val	rs1258611317	missense variant	-	NC_000020.11:g.32436086C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His1126Tyr	rs746797164	missense variant	-	NC_000020.11:g.32436088C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1127Glu	rs565958361	missense variant	-	NC_000020.11:g.32436093T>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1127Asn	rs201009558	missense variant	-	NC_000020.11:g.32436091G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1131Pro	rs774873057	missense variant	-	NC_000020.11:g.32436103T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1133Phe	rs1244161898	missense variant	-	NC_000020.11:g.32436110C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1134Ala	rs1479950391	missense variant	-	NC_000020.11:g.32436112C>G	TOPMed
ASXL1	Q8IXJ9	p.Pro1134Leu	rs367744979	missense variant	-	NC_000020.11:g.32436113C>T	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1135Arg	rs773913292	missense variant	-	NC_000020.11:g.32436116A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1135Glu	rs1429162146	missense variant	-	NC_000020.11:g.32436115C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1136Ile	rs766691864	missense variant	-	NC_000020.11:g.32436118G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1136Leu	rs766691864	missense variant	-	NC_000020.11:g.32436118G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1139Ala	rs1414751361	missense variant	-	NC_000020.11:g.32436127A>G	gnomAD
ASXL1	Q8IXJ9	p.Thr1139Arg	rs371545683	missense variant	-	NC_000020.11:g.32436128C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1139Lys	rs371545683	missense variant	-	NC_000020.11:g.32436128C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1139Ile	rs371545683	missense variant	-	NC_000020.11:g.32436128C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1141Ala	rs765294324	missense variant	-	NC_000020.11:g.32436134A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1143Arg	rs752770575	missense variant	-	NC_000020.11:g.32436139A>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.His1144Arg	rs758535168	missense variant	-	NC_000020.11:g.32436143A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1145Asp	rs777670355	missense variant	-	NC_000020.11:g.32436146G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1146Leu	rs757040754	missense variant	-	NC_000020.11:g.32436149C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1148Cys	RCV000120096	missense variant	-	NC_000020.11:g.32436154C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg1148Cys	rs139435094	missense variant	-	NC_000020.11:g.32436154C>T	ESP,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Arg1148Leu	rs555465153	missense variant	-	NC_000020.11:g.32436155G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1148His	rs555465153	missense variant	-	NC_000020.11:g.32436155G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1149Thr	rs779916654	missense variant	-	NC_000020.11:g.32436158T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1149Ile	rs370415624	missense variant	-	NC_000020.11:g.32436159G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1149Val	rs1217380834	missense variant	-	NC_000020.11:g.32436157A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1149Leu	rs1217380834	missense variant	-	NC_000020.11:g.32436157A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1150Val	rs773823004	missense variant	-	NC_000020.11:g.32436161G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1150Glu	rs773823004	missense variant	-	NC_000020.11:g.32436161G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1150Arg	rs374632491	missense variant	-	NC_000020.11:g.32436160G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1152Ser	rs1417772319	missense variant	-	NC_000020.11:g.32436167T>C	TOPMed
ASXL1	Q8IXJ9	p.His1153Arg	rs761116566	missense variant	-	NC_000020.11:g.32436170A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1154Arg	rs199571804	missense variant	-	NC_000020.11:g.32436172G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1154Cys	rs199571804	missense variant	-	NC_000020.11:g.32436172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1155Ile	rs776864243	missense variant	-	NC_000020.11:g.32436175C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1157Arg	rs752970560	missense variant	-	NC_000020.11:g.32436182A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys1157Glu	rs570096882	missense variant	-	NC_000020.11:g.32436181A>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asn1158Lys	rs1350655725	missense variant	-	NC_000020.11:g.32436186C>A	gnomAD
ASXL1	Q8IXJ9	p.Met1161Thr	rs764192497	missense variant	-	NC_000020.11:g.32436194T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1161Ile	rs1224195364	missense variant	-	NC_000020.11:g.32436195G>A	TOPMed
ASXL1	Q8IXJ9	p.Asp1163Asn	rs371131434	missense variant	-	NC_000020.11:g.32436199G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1163Gly	rs780969167	missense variant	-	NC_000020.11:g.32436200A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1166Arg	RCV000120097	missense variant	-	NC_000020.11:g.32436210C>G	ClinVar
ASXL1	Q8IXJ9	p.Ser1166Arg	rs75887545	missense variant	-	NC_000020.11:g.32436210C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1167Ala	rs1307576046	missense variant	-	NC_000020.11:g.32436211C>G	TOPMed
ASXL1	Q8IXJ9	p.Ser1168Thr	rs587778062	missense variant	-	NC_000020.11:g.32436215G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1168Arg	rs1291218446	missense variant	-	NC_000020.11:g.32436214A>C	gnomAD
ASXL1	Q8IXJ9	p.Ser1168Thr	RCV000315916	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436215G>C	ClinVar
ASXL1	Q8IXJ9	p.Ser1169Tyr	rs1212204313	missense variant	-	NC_000020.11:g.32436218C>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1172Thr	rs748986962	missense variant	-	NC_000020.11:g.32436226G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1173Ser	rs768239600	missense variant	-	NC_000020.11:g.32436230T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Lys1174Asn	rs747485168	missense variant	-	NC_000020.11:g.32436234G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1177Arg	rs1158866700	missense variant	-	NC_000020.11:g.32436242T>G	gnomAD
ASXL1	Q8IXJ9	p.Asp1180Gly	rs746200411	missense variant	-	NC_000020.11:g.32436251A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1180Glu	rs148597247	missense variant	-	NC_000020.11:g.32436252T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1180His	rs777253679	missense variant	-	NC_000020.11:g.32436250G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1180Asn	rs777253679	missense variant	-	NC_000020.11:g.32436250G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1183Ala	rs1160418769	missense variant	-	NC_000020.11:g.32436260A>C	TOPMed
ASXL1	Q8IXJ9	p.Thr1186Pro	rs147905623	missense variant	-	NC_000020.11:g.32436268A>C	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1187Asp	rs755170442	missense variant	-	NC_000020.11:g.32436272G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1187Val	rs755170442	missense variant	-	NC_000020.11:g.32436272G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1188Ile	rs774416906	missense variant	-	NC_000020.11:g.32436274C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1190Lys	rs779117478	missense variant	-	NC_000020.11:g.32436281G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1191Val	rs767340580	missense variant	-	NC_000020.11:g.32436283A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1191Phe	rs767340580	missense variant	-	NC_000020.11:g.32436283A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu1192Val	rs927802180	missense variant	-	NC_000020.11:g.32436287A>T	TOPMed
ASXL1	Q8IXJ9	p.Thr1194Ile	rs1266573048	missense variant	-	NC_000020.11:g.32436293C>T	gnomAD
ASXL1	Q8IXJ9	p.Ala1196Val	rs766307575	missense variant	-	NC_000020.11:g.32436299C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1196Thr	rs1339242781	missense variant	-	NC_000020.11:g.32436298G>A	gnomAD
ASXL1	Q8IXJ9	p.Pro1197Ser	rs753491851	missense variant	-	NC_000020.11:g.32436301C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1198Arg	rs1178916301	missense variant	-	NC_000020.11:g.32436304G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1199Thr	rs959073235	missense variant	-	NC_000020.11:g.32436307G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala1199Val	rs1275445999	missense variant	-	NC_000020.11:g.32436308C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro1200Leu	rs754682331	missense variant	-	NC_000020.11:g.32436311C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1201Arg	rs778774838	missense variant	-	NC_000020.11:g.32436314A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Cys1204Trp	RCV000352132	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436324C>G	ClinVar
ASXL1	Q8IXJ9	p.Cys1204Phe	rs1166225514	missense variant	-	NC_000020.11:g.32436323G>T	gnomAD
ASXL1	Q8IXJ9	p.Cys1204Trp	rs201397030	missense variant	-	NC_000020.11:g.32436324C>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1206Thr	rs757978318	missense variant	-	NC_000020.11:g.32436328G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1208Leu	rs746422436	missense variant	-	NC_000020.11:g.32436335C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1212Phe	RCV000171346	missense variant	-	NC_000020.11:g.32436347C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1212Phe	rs542568224	missense variant	-	NC_000020.11:g.32436347C>T	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1213Ter	RCV000627531	frameshift	-	NC_000020.11:g.32436345_32436348CTCC[1]	ClinVar
ASXL1	Q8IXJ9	p.Leu1213Ter	RCV000779755	frameshift	C-like syndrome (BOPS)	NC_000020.11:g.32436349del	ClinVar
ASXL1	Q8IXJ9	p.His1214Gln	rs1225413009	missense variant	-	NC_000020.11:g.32436354T>A	TOPMed
ASXL1	Q8IXJ9	p.Val1216Leu	rs200817247	missense variant	-	NC_000020.11:g.32436358G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1219Ser	rs774688930	missense variant	-	NC_000020.11:g.32436367C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1220Phe	rs761774988	missense variant	-	NC_000020.11:g.32436370A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1221Lys	rs545612479	missense variant	-	NC_000020.11:g.32436374C>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1221Lys	RCV000120098	missense variant	-	NC_000020.11:g.32436374C>A	ClinVar
ASXL1	Q8IXJ9	p.Ser1222Ala	rs760710389	missense variant	-	NC_000020.11:g.32436376T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1223Phe	rs1256319244	missense variant	-	NC_000020.11:g.32436380C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1224Thr	rs543240313	missense variant	-	NC_000020.11:g.32436383G>C	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1225Asn	rs753682901	missense variant	-	NC_000020.11:g.32436387A>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1226Arg	rs564721149	missense variant	-	NC_000020.11:g.32436389T>G	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1226Gln	rs564721149	missense variant	-	NC_000020.11:g.32436389T>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1227Lys	rs752436984	missense variant	-	NC_000020.11:g.32436391G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Asp1230His	rs150977407	missense variant	-	NC_000020.11:g.32436400G>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1230Asn	rs150977407	missense variant	-	NC_000020.11:g.32436400G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1230Tyr	rs150977407	missense variant	-	NC_000020.11:g.32436400G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1231Phe	RCV000120099	missense variant	-	NC_000020.11:g.32436404C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1231Phe	RCV000295106	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436404C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1231Phe	rs74638057	missense variant	-	NC_000020.11:g.32436404C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1233Gly	rs1303628314	missense variant	-	NC_000020.11:g.32436410A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1234Ter	RCV000679929	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436412C>T	ClinVar
ASXL1	Q8IXJ9	p.Phe1235Val	rs1280682119	missense variant	-	NC_000020.11:g.32436415T>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1236Ala	rs780599775	missense variant	-	NC_000020.11:g.32436418T>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1237Phe	rs749636650	missense variant	-	NC_000020.11:g.32436422C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1237Pro	rs1182744697	missense variant	-	NC_000020.11:g.32436421T>C	TOPMed
ASXL1	Q8IXJ9	p.Phe1238Cys	rs769054940	missense variant	-	NC_000020.11:g.32436425T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Cys1240Arg	rs778970085	missense variant	-	NC_000020.11:g.32436430T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Glu1241Lys	rs372409311	missense variant	-	NC_000020.11:g.32436433G>A	ESP,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Lys1244Glu	rs771995556	missense variant	-	NC_000020.11:g.32436442A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1247Cys	rs146747814	missense variant	-	NC_000020.11:g.32436451C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1247Ser	rs146747814	missense variant	-	NC_000020.11:g.32436451C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1247His	rs760905906	missense variant	-	NC_000020.11:g.32436452G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1249Val	rs146141075	missense variant	-	NC_000020.11:g.32436457A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1249Thr	rs776760001	missense variant	-	NC_000020.11:g.32436458T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1249Val	RCV000345347	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436457A>G	ClinVar
ASXL1	Q8IXJ9	p.Gln1251Arg	rs1177102722	missense variant	-	NC_000020.11:g.32436464A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1251Ter	RCV000578410	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436466_32436470del	ClinVar
ASXL1	Q8IXJ9	p.Asp1252Gly	rs202102305	missense variant	-	NC_000020.11:g.32436467A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1252Asn	rs183833909	missense variant	-	NC_000020.11:g.32436466G>A	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1253Arg	rs4911231	missense variant	-	NC_000020.11:g.32436471T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1253Gly	rs1299065255	missense variant	-	NC_000020.11:g.32436469A>G	gnomAD
ASXL1	Q8IXJ9	p.Asn1254Ser	rs587778059	missense variant	-	NC_000020.11:g.32436473A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1254Ser	RCV000120094	missense variant	-	NC_000020.11:g.32436473A>G	ClinVar
ASXL1	Q8IXJ9	p.Asn1256Ile	rs763441935	missense variant	-	NC_000020.11:g.32436479A>T	ExAC
ASXL1	Q8IXJ9	p.Ala1257Val	rs1274163222	missense variant	-	NC_000020.11:g.32436482C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1258Ser	rs1015611473	missense variant	-	NC_000020.11:g.32436484G>T	TOPMed
ASXL1	Q8IXJ9	p.Ala1258Val	rs971677757	missense variant	-	NC_000020.11:g.32436485C>T	gnomAD
ASXL1	Q8IXJ9	p.Pro1259Leu	rs201338763	missense variant	-	NC_000020.11:g.32436488C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1259Leu	RCV000310306	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436488C>T	ClinVar
ASXL1	Q8IXJ9	p.Lys1261Arg	rs780513703	missense variant	-	NC_000020.11:g.32436494A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1262Arg	rs754382000	missense variant	-	NC_000020.11:g.32436498C>G	ExAC,TOPMed
ASXL1	Q8IXJ9	p.Gly1264Arg	rs368407827	missense variant	-	NC_000020.11:g.32436502G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1265Tyr	rs200527840	missense variant	-	NC_000020.11:g.32436505G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1266Val	rs772335046	missense variant	-	NC_000020.11:g.32436508C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1267Asn	rs368889231	missense variant	-	NC_000020.11:g.32436512C>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1267Asn	RCV000224799	missense variant	-	NC_000020.11:g.32436512C>A	ClinVar
ASXL1	Q8IXJ9	p.Ser1269Leu	rs747065583	missense variant	-	NC_000020.11:g.32436518C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1270Gly	rs776674404	missense variant	-	NC_000020.11:g.32436520A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1271Ala	rs759571048	missense variant	-	NC_000020.11:g.32436523A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1272Ala	rs542860516	missense variant	-	NC_000020.11:g.32436526C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1272Ser	rs542860516	missense variant	-	NC_000020.11:g.32436526C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1272Thr	rs542860516	missense variant	-	NC_000020.11:g.32436526C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1272His	rs775363893	missense variant	-	NC_000020.11:g.32436527C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1273Cys	rs587778060	missense variant	-	NC_000020.11:g.32436529C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1273His	rs762720533	missense variant	-	NC_000020.11:g.32436530G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1273Cys	RCV000120100	missense variant	-	NC_000020.11:g.32436529C>T	ClinVar
ASXL1	Q8IXJ9	p.Ser1276Phe	rs763784731	missense variant	-	NC_000020.11:g.32436539C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ile1280Thr	rs1327515633	missense variant	-	NC_000020.11:g.32436551T>C	TOPMed
ASXL1	Q8IXJ9	p.Gly1283Ser	rs751259103	missense variant	-	NC_000020.11:g.32436559G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1284Ala	rs761279083	missense variant	-	NC_000020.11:g.32436562C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1286Arg	rs1227209031	missense variant	-	NC_000020.11:g.32436569A>G	gnomAD
ASXL1	Q8IXJ9	p.Gly1288Asp	rs1396654725	missense variant	-	NC_000020.11:g.32436575G>A	TOPMed
ASXL1	Q8IXJ9	p.Arg1289Trp	rs201302084	missense variant	-	NC_000020.11:g.32436577C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1289Gln	rs755522655	missense variant	-	NC_000020.11:g.32436578G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1290Val	rs779080154	missense variant	-	NC_000020.11:g.32436581C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1292Val	rs1237413045	missense variant	-	NC_000020.11:g.32436587G>T	gnomAD
ASXL1	Q8IXJ9	p.Ser1295Asn	rs1180789984	missense variant	-	NC_000020.11:g.32436596G>A	gnomAD
ASXL1	Q8IXJ9	p.Asn1296Lys	rs753093028	missense variant	-	NC_000020.11:g.32436600T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1297Ile	rs140137262	missense variant	-	NC_000020.11:g.32436601G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1297Ile	RCV000120110	missense variant	-	NC_000020.11:g.32436601G>A	ClinVar
ASXL1	Q8IXJ9	p.Thr1298Ile	rs778027986	missense variant	-	NC_000020.11:g.32436605C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1299Asp	rs1416591993	missense variant	-	NC_000020.11:g.32436608G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln1300Ter	RCV000414513	frameshift	-	NC_000020.11:g.32436606_32436609dup	ClinVar
ASXL1	Q8IXJ9	p.Leu1304Ile	rs747267907	missense variant	-	NC_000020.11:g.32436622C>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1304Val	rs747267907	missense variant	-	NC_000020.11:g.32436622C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1304Val	RCV000514197	missense variant	-	NC_000020.11:g.32436622C>G	ClinVar
ASXL1	Q8IXJ9	p.Phe1305Ser	rs745736272	missense variant	-	NC_000020.11:g.32436626T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Phe1305Tyr	rs745736272	missense variant	-	NC_000020.11:g.32436626T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Phe1305Tyr	RCV000364864	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436626T>A	ClinVar
ASXL1	Q8IXJ9	p.Gly1306Val	rs769761920	missense variant	-	NC_000020.11:g.32436629G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1306Asp	rs769761920	missense variant	-	NC_000020.11:g.32436629G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1308Glu	rs1294298793	missense variant	-	NC_000020.11:g.32436635G>A	TOPMed
ASXL1	Q8IXJ9	p.Ala1312Val	rs148144203	missense variant	-	NC_000020.11:g.32436647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1312Val	RCV000397788	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436647C>T	ClinVar
ASXL1	Q8IXJ9	p.Leu1314Phe	rs376070210	missense variant	-	NC_000020.11:g.32436652C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1316His	rs369419785	missense variant	-	NC_000020.11:g.32436659G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1316Leu	rs369419785	missense variant	-	NC_000020.11:g.32436659G>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1316Cys	rs773951405	missense variant	-	NC_000020.11:g.32436658C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1318Trp	rs373632896	missense variant	-	NC_000020.11:g.32436664A>T	ESP,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Ala1320Val	rs760162421	missense variant	-	NC_000020.11:g.32436671C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1322Arg	RCV000301881	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436677C>G	ClinVar
ASXL1	Q8IXJ9	p.Pro1322Leu	rs141930107	missense variant	-	NC_000020.11:g.32436677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1322Arg	rs141930107	missense variant	-	NC_000020.11:g.32436677C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1323Val	rs1399861829	missense variant	-	NC_000020.11:g.32436679A>G	TOPMed
ASXL1	Q8IXJ9	p.Leu1325Phe	rs6057581	missense variant	-	NC_000020.11:g.32436685C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1325Phe	RCV000361233	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436685C>T	ClinVar
ASXL1	Q8IXJ9	p.Pro1326Arg	rs757562094	missense variant	-	NC_000020.11:g.32436689C>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1326Leu	rs757562094	missense variant	-	NC_000020.11:g.32436689C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1329Phe	rs1193631121	missense variant	-	NC_000020.11:g.32436697A>T	gnomAD
ASXL1	Q8IXJ9	p.Pro1330Leu	rs201002256	missense variant	-	NC_000020.11:g.32436701C>T	1000Genomes,ExAC
ASXL1	Q8IXJ9	p.Pro1330Ser	rs1470476757	missense variant	-	NC_000020.11:g.32436700C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1334Arg	rs1171765386	missense variant	-	NC_000020.11:g.32436713C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1335Asn	rs749211532	missense variant	-	NC_000020.11:g.32436716G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1339Glu	rs370510519	missense variant	-	NC_000020.11:g.32436728G>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1339Arg	rs768446568	missense variant	-	NC_000020.11:g.32436727G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1340Thr	rs375493039	missense variant	-	NC_000020.11:g.32436730C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1340Leu	rs1277513406	missense variant	-	NC_000020.11:g.32436731C>T	gnomAD
ASXL1	Q8IXJ9	p.Ser1341Asn	rs772901230	missense variant	-	NC_000020.11:g.32436734G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1341Arg	rs771708439	missense variant	-	NC_000020.11:g.32436733A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1345Leu	rs377173817	missense variant	-	NC_000020.11:g.32436745A>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1345Thr	rs1217736138	missense variant	-	NC_000020.11:g.32436746T>C	gnomAD
ASXL1	Q8IXJ9	p.Met1345Arg	rs1217736138	missense variant	-	NC_000020.11:g.32436746T>G	gnomAD
ASXL1	Q8IXJ9	p.Met1345Val	rs377173817	missense variant	-	NC_000020.11:g.32436745A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1347Ser	rs1282636106	missense variant	-	NC_000020.11:g.32436751G>A	TOPMed
ASXL1	Q8IXJ9	p.Gly1347Asp	rs776017976	missense variant	-	NC_000020.11:g.32436752G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1348Arg	rs1235681276	missense variant	-	NC_000020.11:g.32436754G>A	gnomAD
ASXL1	Q8IXJ9	p.Gly1348Glu	rs1215926778	missense variant	-	NC_000020.11:g.32436755G>A	gnomAD
ASXL1	Q8IXJ9	p.Val1349Ile	rs1261675179	missense variant	-	NC_000020.11:g.32436757G>A	gnomAD
ASXL1	Q8IXJ9	p.Gln1350Arg	rs764491073	missense variant	-	NC_000020.11:g.32436761A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln1350Ter	rs763386297	stop gained	-	NC_000020.11:g.32436760C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1350His	rs1254556412	missense variant	-	NC_000020.11:g.32436762G>T	gnomAD
ASXL1	Q8IXJ9	p.Thr1351Ala	rs957498028	missense variant	-	NC_000020.11:g.32436763A>G	gnomAD
ASXL1	Q8IXJ9	p.Thr1351Pro	rs957498028	missense variant	-	NC_000020.11:g.32436763A>C	gnomAD
ASXL1	Q8IXJ9	p.Pro1352Thr	rs1477232064	missense variant	-	NC_000020.11:g.32436766C>A	gnomAD
ASXL1	Q8IXJ9	p.Glu1354Ter	RCV000779754	nonsense	C-like syndrome (BOPS)	NC_000020.11:g.32436772G>T	ClinVar
ASXL1	Q8IXJ9	p.Asp1355Tyr	rs897163423	missense variant	-	NC_000020.11:g.32436775G>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1355His	rs897163423	missense variant	-	NC_000020.11:g.32436775G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asp1355Gly	rs751971997	missense variant	-	NC_000020.11:g.32436776A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1357Pro	rs1296966469	missense variant	-	NC_000020.11:g.32436781G>C	gnomAD
ASXL1	Q8IXJ9	p.Ala1357Val	rs1221149032	missense variant	-	NC_000020.11:g.32436782C>T	TOPMed
ASXL1	Q8IXJ9	p.Pro1358Arg	rs1342576866	missense variant	-	NC_000020.11:g.32436785C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1358Ala	rs554525759	missense variant	-	NC_000020.11:g.32436784C>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1360Leu	rs750648431	missense variant	-	NC_000020.11:g.32436791C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1360Ser	rs1318861266	missense variant	-	NC_000020.11:g.32436790C>T	gnomAD
ASXL1	Q8IXJ9	p.His1361Leu	rs1276856584	missense variant	-	NC_000020.11:g.32436794A>T	gnomAD
ASXL1	Q8IXJ9	p.His1361Arg	rs1276856584	missense variant	-	NC_000020.11:g.32436794A>G	gnomAD
ASXL1	Q8IXJ9	p.His1361Tyr	rs756177197	missense variant	-	NC_000020.11:g.32436793C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1364Leu	rs1348803364	missense variant	-	NC_000020.11:g.32436802G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1365Ser	rs1239527829	missense variant	-	NC_000020.11:g.32436805G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser1366Gly	rs1355933920	missense variant	-	NC_000020.11:g.32436808A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1366Thr	rs1218050808	missense variant	-	NC_000020.11:g.32436809G>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1367Ile	rs147456014	missense variant	-	NC_000020.11:g.32436811G>A	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1367Ile	RCV000317182	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436811G>A	ClinVar
ASXL1	Q8IXJ9	p.Lys1371Arg	rs747916498	missense variant	-	NC_000020.11:g.32436824A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1372Ser	rs201989261	missense variant	-	NC_000020.11:g.32436827C>G	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1372Ala	rs1157660270	missense variant	-	NC_000020.11:g.32436826A>G	gnomAD
ASXL1	Q8IXJ9	p.Phe1373Ser	rs777366376	missense variant	-	NC_000020.11:g.32436830T>C	ExAC
ASXL1	Q8IXJ9	p.Val1374Met	rs1174240695	missense variant	-	NC_000020.11:g.32436832G>A	TOPMed
ASXL1	Q8IXJ9	p.Gly1375Trp	rs191965193	missense variant	-	NC_000020.11:g.32436835G>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1376Cys	rs1384877310	missense variant	-	NC_000020.11:g.32436838G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly1376Asp	rs759156029	missense variant	-	NC_000020.11:g.32436839G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1376Val	rs759156029	missense variant	-	NC_000020.11:g.32436839G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1377Leu	rs1371456909	missense variant	-	NC_000020.11:g.32436842C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1377Ter	RCV000622437	frameshift	Inborn genetic diseases	NC_000020.11:g.32436839dup	ClinVar
ASXL1	Q8IXJ9	p.Ala1380Gly	rs139319958	missense variant	-	NC_000020.11:g.32436851C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1382Thr	rs1195761913	missense variant	-	NC_000020.11:g.32436856G>A	TOPMed
ASXL1	Q8IXJ9	p.Glu1383Lys	rs143770363	missense variant	-	NC_000020.11:g.32436859G>A	1000Genomes,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1383Asp	rs1288855568	missense variant	-	NC_000020.11:g.32436861G>C	gnomAD
ASXL1	Q8IXJ9	p.Asn1384Asp	rs768021025	missense variant	-	NC_000020.11:g.32436862A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1385Lys	rs760817964	missense variant	-	NC_000020.11:g.32436866G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1385Gly	rs750607342	missense variant	-	NC_000020.11:g.32436865A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1389Glu	rs1457578532	missense variant	-	NC_000020.11:g.32436878G>A	gnomAD
ASXL1	Q8IXJ9	p.His1390Tyr	rs761239386	missense variant	-	NC_000020.11:g.32436880C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1391Arg	rs778791558	missense variant	-	NC_000020.11:g.32436885T>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1392Ala	rs368624471	missense variant	-	NC_000020.11:g.32436886C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1392Ser	rs368624471	missense variant	-	NC_000020.11:g.32436886C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Glu1394Val	rs1456392521	missense variant	-	NC_000020.11:g.32436893A>T	gnomAD
ASXL1	Q8IXJ9	p.Leu1395Val	rs150004862	missense variant	-	NC_000020.11:g.32436895C>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1396Leu	rs770488855	missense variant	-	NC_000020.11:g.32436898G>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Asp	rs745344384	missense variant	-	NC_000020.11:g.32436902G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Ser	rs146464648	missense variant	-	NC_000020.11:g.32436901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Ala	rs745344384	missense variant	-	NC_000020.11:g.32436902G>C	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1397Ser	RCV000353069	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32436901G>A	ClinVar
ASXL1	Q8IXJ9	p.His1398Arg	rs1392041036	missense variant	-	NC_000020.11:g.32436905A>G	gnomAD
ASXL1	Q8IXJ9	p.His1398Asp	rs1381834100	missense variant	-	NC_000020.11:g.32436904C>G	TOPMed
ASXL1	Q8IXJ9	p.Leu1399Phe	rs1454543776	missense variant	-	NC_000020.11:g.32436909G>C	TOPMed
ASXL1	Q8IXJ9	p.Glu1400Ter	RCV000523176	nonsense	-	NC_000020.11:g.32436910G>T	ClinVar
ASXL1	Q8IXJ9	p.Glu1400Ter	rs1555912930	stop gained	-	NC_000020.11:g.32436910G>T	-
ASXL1	Q8IXJ9	p.Gly1401Arg	rs774955684	missense variant	-	NC_000020.11:g.32436913G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1402Ile	rs772505693	missense variant	-	NC_000020.11:g.32436918G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1402Val	rs1247685297	missense variant	-	NC_000020.11:g.32436916A>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1402Leu	rs1247685297	missense variant	-	NC_000020.11:g.32436916A>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1402Lys	rs762429584	missense variant	-	NC_000020.11:g.32436917T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1403Ser	rs148670852	missense variant	-	NC_000020.11:g.32436919C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1403Leu	rs1255779893	missense variant	-	NC_000020.11:g.32436920C>T	gnomAD
ASXL1	Q8IXJ9	p.Met1406Leu	rs1481373919	missense variant	-	NC_000020.11:g.32436928A>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1408Val	rs1196015590	missense variant	-	NC_000020.11:g.32436934T>G	gnomAD
ASXL1	Q8IXJ9	p.Trp1411Ter	rs1189588116	stop gained	-	NC_000020.11:g.32436945G>A	gnomAD
ASXL1	Q8IXJ9	p.Lys1412Ter	rs1418437557	stop gained	-	NC_000020.11:g.32436946A>T	gnomAD
ASXL1	Q8IXJ9	p.Lys1412Glu	rs1418437557	missense variant	-	NC_000020.11:g.32436946A>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1414Thr	rs375106070	missense variant	-	NC_000020.11:g.32436952C>A	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1414Ser	rs375106070	missense variant	-	NC_000020.11:g.32436952C>T	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Gln	rs143328954	missense variant	-	NC_000020.11:g.32436956G>A	ESP,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Ter	rs754129466	stop gained	-	NC_000020.11:g.32436955C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Ter	RCV000623910	nonsense	Inborn genetic diseases	NC_000020.11:g.32436955C>T	ClinVar
ASXL1	Q8IXJ9	p.Arg1415Gly	rs754129466	missense variant	-	NC_000020.11:g.32436955C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Arg1415Ter	RCV000578978	nonsense	-	NC_000020.11:g.32436955C>T	ClinVar
ASXL1	Q8IXJ9	p.Glu1416Gly	rs146759903	missense variant	-	NC_000020.11:g.32436959A>G	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1418Trp	rs1302458782	missense variant	-	NC_000020.11:g.32436964G>T	gnomAD
ASXL1	Q8IXJ9	p.Gly1418Glu	rs1400206227	missense variant	-	NC_000020.11:g.32436965G>A	gnomAD
ASXL1	Q8IXJ9	p.Lys1419Arg	rs1182239186	missense variant	-	NC_000020.11:g.32436968A>G	TOPMed
ASXL1	Q8IXJ9	p.Gly1420Ala	rs140396659	missense variant	-	NC_000020.11:g.32436971G>C	ESP
ASXL1	Q8IXJ9	p.Ser1422Asn	rs752574445	missense variant	-	NC_000020.11:g.32436977G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Pro1424Leu	rs563685779	missense variant	-	NC_000020.11:g.32436983C>T	1000Genomes,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1425Gln	rs1280568526	missense variant	-	NC_000020.11:g.32436986T>A	gnomAD
ASXL1	Q8IXJ9	p.Leu1425Val	rs1268535205	missense variant	-	NC_000020.11:g.32436985C>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1427Ser	rs764162507	missense variant	-	NC_000020.11:g.32436991C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1428Pro	rs150925693	missense variant	-	NC_000020.11:g.32436994T>C	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1429Phe	rs1212344694	missense variant	-	NC_000020.11:g.32436998C>T	gnomAD
ASXL1	Q8IXJ9	p.Leu1434Phe	rs755633691	missense variant	-	NC_000020.11:g.32437012C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1436Val	rs779722479	missense variant	-	NC_000020.11:g.32437018A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1436Phe	rs779722479	missense variant	-	NC_000020.11:g.32437018A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ile1436Met	rs748596785	missense variant	-	NC_000020.11:g.32437020C>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln1438Ter	RCV000598608	nonsense	-	NC_000020.11:g.32437024C>T	ClinVar
ASXL1	Q8IXJ9	p.Gln1438Ter	rs1555912974	stop gained	-	NC_000020.11:g.32437024C>T	-
ASXL1	Q8IXJ9	p.Lys1446Glu	rs1313492286	missense variant	-	NC_000020.11:g.32437048A>G	gnomAD
ASXL1	Q8IXJ9	p.Gln1448Arg	rs772452614	missense variant	-	NC_000020.11:g.32437055A>G	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1450Cys	rs1248006647	missense variant	-	NC_000020.11:g.32437060A>T	TOPMed
ASXL1	Q8IXJ9	p.Ser1453Arg	rs1363144805	missense variant	-	NC_000020.11:g.32437071C>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1453Thr	rs369323188	missense variant	-	NC_000020.11:g.32437070G>C	ESP,ExAC,gnomAD
ASXL1	Q8IXJ9	p.Phe1454Cys	rs1260140152	missense variant	-	NC_000020.11:g.32437073T>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Asn1455Tyr	rs1300193320	missense variant	-	NC_000020.11:g.32437075A>T	gnomAD
ASXL1	Q8IXJ9	p.Tyr1456His	rs1297604770	missense variant	-	NC_000020.11:g.32437078T>C	TOPMed
ASXL1	Q8IXJ9	p.Ser1459Asn	rs776785621	missense variant	-	NC_000020.11:g.32437088G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1459Gly	rs1488502891	missense variant	-	NC_000020.11:g.32437087A>G	gnomAD
ASXL1	Q8IXJ9	p.Ser1460Phe	rs759768826	missense variant	-	NC_000020.11:g.32437091C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1460Ala	rs1280491013	missense variant	-	NC_000020.11:g.32437090T>G	gnomAD
ASXL1	Q8IXJ9	p.Pro1461Leu	rs765236014	missense variant	-	NC_000020.11:g.32437094C>T	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1461Ser	rs1214409436	missense variant	-	NC_000020.11:g.32437093C>T	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Pro1461Ala	rs1214409436	missense variant	-	NC_000020.11:g.32437093C>G	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Thr1462Asn	rs1264766060	missense variant	-	NC_000020.11:g.32437097C>A	gnomAD
ASXL1	Q8IXJ9	p.Gly1466Asp	rs1037113561	missense variant	-	NC_000020.11:g.32437109G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gly1466Ser	rs763081912	missense variant	-	NC_000020.11:g.32437108G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ala1468Gly	rs763919568	missense variant	-	NC_000020.11:g.32437115C>G	ExAC
ASXL1	Q8IXJ9	p.Ser1470Asn	rs1426000456	missense variant	-	NC_000020.11:g.32437121G>A	TOPMed
ASXL1	Q8IXJ9	p.Val1471Met	rs779516123	missense variant	-	NC_000020.11:g.32437123G>A	-
ASXL1	Q8IXJ9	p.Val1472Met	rs756958250	missense variant	-	NC_000020.11:g.32437126G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1473Arg	rs767364451	missense variant	-	NC_000020.11:g.32437130A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Leu1474Pro	RCV000424358	missense variant	-	NC_000020.11:g.32437133T>C	ClinVar
ASXL1	Q8IXJ9	p.Leu1474Pro	rs1057522762	missense variant	-	NC_000020.11:g.32437133T>C	-
ASXL1	Q8IXJ9	p.Asn1479Asp	rs1417907059	missense variant	-	NC_000020.11:g.32437147A>G	gnomAD
ASXL1	Q8IXJ9	p.Phe1480Cys	rs1479344658	missense variant	-	NC_000020.11:g.32437151T>G	TOPMed
ASXL1	Q8IXJ9	p.Gly1481Ser	rs755830073	missense variant	-	NC_000020.11:g.32437153G>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1481Asp	rs1457731507	missense variant	-	NC_000020.11:g.32437154G>A	gnomAD
ASXL1	Q8IXJ9	p.Ala1482Val	rs779918659	missense variant	-	NC_000020.11:g.32437157C>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ala1482Thr	rs1292214111	missense variant	-	NC_000020.11:g.32437156G>A	gnomAD
ASXL1	Q8IXJ9	p.Ser1485Gly	rs1237260890	missense variant	-	NC_000020.11:g.32437165A>G	gnomAD
ASXL1	Q8IXJ9	p.Leu1488Ile	rs771144822	missense variant	-	NC_000020.11:g.32437174C>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1489Thr	rs776986293	missense variant	-	NC_000020.11:g.32437177T>A	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1489Pro	rs776986293	missense variant	-	NC_000020.11:g.32437177T>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Ser1489Cys	rs1205345035	missense variant	-	NC_000020.11:g.32437178C>G	TOPMed
ASXL1	Q8IXJ9	p.Leu1490Ser	rs1237757749	missense variant	-	NC_000020.11:g.32437181T>C	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1490Met	rs1194548712	missense variant	-	NC_000020.11:g.32437180T>A	gnomAD
ASXL1	Q8IXJ9	p.Leu1490Phe	rs140896392	missense variant	-	NC_000020.11:g.32437182G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Gln1491Arg	rs985114051	missense variant	-	NC_000020.11:g.32437184A>G	gnomAD
ASXL1	Q8IXJ9	p.Met1492Thr	rs1405352304	missense variant	-	NC_000020.11:g.32437187T>C	gnomAD
ASXL1	Q8IXJ9	p.Thr1498Met	RCV000262828	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32437205C>T	ClinVar
ASXL1	Q8IXJ9	p.Thr1498Ala	rs762915264	missense variant	-	NC_000020.11:g.32437204A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Thr1498Met	rs150119795	missense variant	-	NC_000020.11:g.32437205C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1499Met	rs761827265	missense variant	-	NC_000020.11:g.32437207G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Val1499Ala	rs1410601864	missense variant	-	NC_000020.11:g.32437208T>C	TOPMed
ASXL1	Q8IXJ9	p.Glu1500Gln	rs1443938586	missense variant	-	NC_000020.11:g.32437210G>C	gnomAD
ASXL1	Q8IXJ9	p.Leu1504Phe	rs1301572138	missense variant	-	NC_000020.11:g.32437222C>T	TOPMed
ASXL1	Q8IXJ9	p.Ala1507Val	rs375101983	missense variant	-	NC_000020.11:g.32437232C>T	ESP,ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Ser1509Asn	rs753585837	missense variant	-	NC_000020.11:g.32437238G>A	ExAC,TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Met1513Leu	rs778498255	missense variant	-	NC_000020.11:g.32437249A>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Met1515Val	rs142546929	missense variant	-	NC_000020.11:g.32437255A>G	ESP,ExAC,TOPMed
ASXL1	Q8IXJ9	p.Met1515Thr	rs1479862599	missense variant	-	NC_000020.11:g.32437256T>C	TOPMed
ASXL1	Q8IXJ9	p.Cys1516Arg	rs1266285643	missense variant	-	NC_000020.11:g.32437258T>C	TOPMed
ASXL1	Q8IXJ9	p.Gln1517Pro	rs781704918	missense variant	-	NC_000020.11:g.32437262A>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gln1517Arg	rs781704918	missense variant	-	NC_000020.11:g.32437262A>G	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1520Ser	rs146743741	missense variant	-	NC_000020.11:g.32437270G>A	ESP,gnomAD
ASXL1	Q8IXJ9	p.Gly1520Arg	rs146743741	missense variant	-	NC_000020.11:g.32437270G>C	ESP,gnomAD
ASXL1	Q8IXJ9	p.His1524Tyr	rs149678774	missense variant	-	NC_000020.11:g.32437282C>T	1000Genomes
ASXL1	Q8IXJ9	p.Asp1525Asn	rs139397200	missense variant	-	NC_000020.11:g.32437285G>A	ESP,gnomAD
ASXL1	Q8IXJ9	p.Cys1527Ser	rs768565271	missense variant	-	NC_000020.11:g.32437292G>C	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Gly1529Val	rs774496581	missense variant	-	NC_000020.11:g.32437298G>T	ExAC,gnomAD
ASXL1	Q8IXJ9	p.Val1535Ile	RCV000317983	missense variant	C-like syndrome (BOPS)	NC_000020.11:g.32437315G>A	ClinVar
ASXL1	Q8IXJ9	p.Val1535Ile	rs886056603	missense variant	-	NC_000020.11:g.32437315G>A	TOPMed,gnomAD
ASXL1	Q8IXJ9	p.Leu1538Phe	rs1229055519	missense variant	-	NC_000020.11:g.32437324C>T	TOPMed
ASXL1	Q8IXJ9	p.Arg1541Lys	rs1221897744	missense variant	-	NC_000020.11:g.32437334G>A	gnomAD
PHC2	Q8IXK0	p.Glu4Ter	rs1227108458	stop gained	-	NC_000001.11:g.33375530C>A	gnomAD
PHC2	Q8IXK0	p.Pro6Leu	rs1325007745	missense variant	-	NC_000001.11:g.33375523G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro8Ser	rs917326939	missense variant	-	NC_000001.11:g.33375518G>A	TOPMed
PHC2	Q8IXK0	p.His9Arg	rs773205424	missense variant	-	NC_000001.11:g.33375514T>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr10Ile	rs1397060162	missense variant	-	NC_000001.11:g.33375511G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser11Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33375508G>T	NCI-TCGA
PHC2	Q8IXK0	p.Ser11Thr	rs747806840	missense variant	-	NC_000001.11:g.33375509A>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala14Val	rs746530992	missense variant	-	NC_000001.11:g.33375499G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala14Gly	rs746530992	missense variant	-	NC_000001.11:g.33375499G>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Cys15Gly	rs1168097520	missense variant	-	NC_000001.11:g.33375497A>C	gnomAD
PHC2	Q8IXK0	p.Ser19Ile	rs142896193	missense variant	-	NC_000001.11:g.33375484C>A	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Ser19Asn	rs142896193	missense variant	-	NC_000001.11:g.33375484C>T	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Thr20Ile	rs750784189	missense variant	-	NC_000001.11:g.33375481G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser21Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33375478C>T	NCI-TCGA
PHC2	Q8IXK0	p.Gly22Val	rs1258904112	missense variant	-	NC_000001.11:g.33375475C>A	TOPMed
PHC2	Q8IXK0	p.Gly22Arg	rs542882231	missense variant	-	NC_000001.11:g.33375476C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala23Thr	rs1459289507	missense variant	-	NC_000001.11:g.33375473C>T	gnomAD
PHC2	Q8IXK0	p.Ser24Asn	rs1175954226	missense variant	-	NC_000001.11:g.33375469C>T	TOPMed
PHC2	Q8IXK0	p.Ser25Gly	rs982056475	missense variant	-	NC_000001.11:g.33375467T>C	TOPMed
PHC2	Q8IXK0	p.Ser26Cys	rs753965502	missense variant	-	NC_000001.11:g.33375464T>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Cys29Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.33375453G>T	NCI-TCGA
PHC2	Q8IXK0	p.Cys29Tyr	rs1337867376	missense variant	-	NC_000001.11:g.33375454C>T	gnomAD
PHC2	Q8IXK0	p.Asn31His	rs764381431	missense variant	-	NC_000001.11:g.33375449T>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly35Asp	rs1313795875	missense variant	-	NC_000001.11:g.33375436C>T	gnomAD
PHC2	Q8IXK0	p.Gly35Arg	rs1170054687	missense variant	-	NC_000001.11:g.33375437C>G	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly36Arg	rs760777564	missense variant	-	NC_000001.11:g.33375434C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly36Ala	rs1378415107	missense variant	-	NC_000001.11:g.33375433C>G	gnomAD
PHC2	Q8IXK0	p.Ser37Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33375431T>C	NCI-TCGA
PHC2	Q8IXK0	p.Ser37Arg	rs752879166	missense variant	-	NC_000001.11:g.33375429A>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg39His	rs368911062	missense variant	-	NC_000001.11:g.33375424C>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg39Cys	rs145654669	missense variant	-	NC_000001.11:g.33375425G>A	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly42Arg	rs769429979	missense variant	-	NC_000001.11:g.33375416C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln44His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33375408C>A	NCI-TCGA
PHC2	Q8IXK0	p.Ile45Phe	rs974534850	missense variant	-	NC_000001.11:g.33375407T>A	TOPMed
PHC2	Q8IXK0	p.Ser46Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33375403G>A	NCI-TCGA
PHC2	Q8IXK0	p.Ser49Arg	rs1441648414	missense variant	-	NC_000001.11:g.33375395T>G	gnomAD
PHC2	Q8IXK0	p.Ser49Asn	rs1304825877	missense variant	-	NC_000001.11:g.33375394C>T	TOPMed
PHC2	Q8IXK0	p.Gly50Asp	rs1233468445	missense variant	-	NC_000001.11:g.33375391C>T	gnomAD
PHC2	Q8IXK0	p.Arg54Gln	rs761703005	missense variant	-	NC_000001.11:g.33375379C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg54Trp	rs773596075	missense variant	-	NC_000001.11:g.33375380G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr56Asn	rs572369078	missense variant	-	NC_000001.11:g.33375373G>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Val57Ala	rs148368561	missense variant	-	NC_000001.11:g.33375370A>G	ESP,TOPMed
PHC2	Q8IXK0	p.Val57Met	rs746508855	missense variant	-	NC_000001.11:g.33375371C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Val59Met	rs1361146833	missense variant	-	NC_000001.11:g.33372447C>T	TOPMed
PHC2	Q8IXK0	p.Ile60Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33372442G>C	NCI-TCGA
PHC2	Q8IXK0	p.Ala63Asp	rs776547529	missense variant	-	NC_000001.11:g.33372434G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Thr70Met	rs377077362	missense variant	-	NC_000001.11:g.33372413G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala72Thr	rs890610555	missense variant	-	NC_000001.11:g.33372408C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala72Val	rs774662828	missense variant	-	NC_000001.11:g.33372407G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Tyr74Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.33372400G>T	NCI-TCGA
PHC2	Q8IXK0	p.Tyr74His	rs1434810296	missense variant	-	NC_000001.11:g.33372402A>G	TOPMed
PHC2	Q8IXK0	p.Gln77His	COSM4843982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33372391C>G	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Gln77Glu	rs771525735	missense variant	-	NC_000001.11:g.33372393G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Met78Ile	rs1196273564	missense variant	-	NC_000001.11:g.33372388C>T	gnomAD
PHC2	Q8IXK0	p.Tyr79His	COSM908430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33372387A>G	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Ala80Thr	rs1242076849	missense variant	-	NC_000001.11:g.33372384C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala81Thr	rs201814819	missense variant	-	NC_000001.11:g.33372381C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.His85Asp	rs1264383687	missense variant	-	NC_000001.11:g.33372369G>C	gnomAD
PHC2	Q8IXK0	p.Leu86Phe	rs756379404	missense variant	-	NC_000001.11:g.33372366G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala91Thr	rs375458768	missense variant	-	NC_000001.11:g.33372351C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala91Val	rs755045183	missense variant	-	NC_000001.11:g.33372350G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala92Val	rs751676989	missense variant	-	NC_000001.11:g.33372347G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu93Phe	rs1173042284	missense variant	-	NC_000001.11:g.33372345G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln95Glu	rs1429502467	missense variant	-	NC_000001.11:g.33372339G>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln96Lys	rs1419182459	missense variant	-	NC_000001.11:g.33372336G>T	gnomAD
PHC2	Q8IXK0	p.His97Tyr	rs1185289821	missense variant	-	NC_000001.11:g.33372333G>A	gnomAD
PHC2	Q8IXK0	p.His97Gln	rs765072943	missense variant	-	NC_000001.11:g.33372331G>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala101Thr	rs372209652	missense variant	-	NC_000001.11:g.33372321C>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala101Val	rs939357077	missense variant	-	NC_000001.11:g.33372320G>A	TOPMed
PHC2	Q8IXK0	p.Gln104His	rs1164860261	missense variant	-	NC_000001.11:g.33372310C>G	gnomAD
PHC2	Q8IXK0	p.Val109Ile	rs760492303	missense variant	-	NC_000001.11:g.33372297C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Gln111Glu	rs1461003029	missense variant	-	NC_000001.11:g.33372291G>C	TOPMed
PHC2	Q8IXK0	p.Ser116Tyr	rs373837300	missense variant	-	NC_000001.11:g.33371081G>T	ESP,ExAC,TOPMed
PHC2	Q8IXK0	p.Asn117Ser	rs753761423	missense variant	-	NC_000001.11:g.33371078T>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg118Lys	rs1202143045	missense variant	-	NC_000001.11:g.33371075C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg118Thr	rs1202143045	missense variant	-	NC_000001.11:g.33371075C>G	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln119Ter	rs1361283752	stop gained	-	NC_000001.11:g.33371073G>A	gnomAD
PHC2	Q8IXK0	p.Ser121Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33371067T>C	NCI-TCGA
PHC2	Q8IXK0	p.Ser123Thr	rs755844280	missense variant	-	NC_000001.11:g.33371061A>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Asn126Tyr	rs752545798	missense variant	-	NC_000001.11:g.33371052T>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala129Val	rs760110448	missense variant	-	NC_000001.11:g.33371042G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala129Thr	rs773707398	missense variant	-	NC_000001.11:g.33371043C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Gln130Arg	rs773792371	missense variant	-	NC_000001.11:g.33371039T>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala131Val	rs923826580	missense variant	-	NC_000001.11:g.33371036G>A	gnomAD
PHC2	Q8IXK0	p.Ala131Asp	rs923826580	missense variant	-	NC_000001.11:g.33371036G>T	gnomAD
PHC2	Q8IXK0	p.Pro132Leu	rs370430442	missense variant	-	NC_000001.11:g.33371033G>A	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Ser137Leu	rs747306048	missense variant	-	NC_000001.11:g.33371018G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ile138Thr	rs1328518316	missense variant	-	NC_000001.11:g.33370584A>G	gnomAD
PHC2	Q8IXK0	p.Asn139Ser	rs145063380	missense variant	-	NC_000001.11:g.33370581T>C	ESP,TOPMed
PHC2	Q8IXK0	p.Asn139Asp	rs769016941	missense variant	-	NC_000001.11:g.33370582T>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala142Val	rs1383699030	missense variant	-	NC_000001.11:g.33370572G>A	gnomAD
PHC2	Q8IXK0	p.Ala145Val	rs41265897	missense variant	-	NC_000001.11:g.33370563G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala145Thr	rs368308556	missense variant	-	NC_000001.11:g.33370564C>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala146Val	rs1175209137	missense variant	-	NC_000001.11:g.33370560G>A	gnomAD
PHC2	Q8IXK0	p.Gln148His	rs779004256	missense variant	-	NC_000001.11:g.33370553C>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Gln148His	rs779004256	missense variant	-	NC_000001.11:g.33370553C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Gln148Lys	rs745942992	missense variant	-	NC_000001.11:g.33370555G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Leu149His	rs377675352	missense variant	-	NC_000001.11:g.33370551A>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu149Val	rs769693579	missense variant	-	NC_000001.11:g.33370552G>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu150Phe	rs754733612	missense variant	-	NC_000001.11:g.33370549G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Asn151Lys	rs751327448	missense variant	-	NC_000001.11:g.33370544G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg152Gln	rs1201944638	missense variant	-	NC_000001.11:g.33370542C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln154Lys	rs369513931	missense variant	-	NC_000001.11:g.33370537G>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser155Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33370533C>A	NCI-TCGA
PHC2	Q8IXK0	p.Ser155Asn	rs761432411	missense variant	-	NC_000001.11:g.33370533C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Val156Leu	rs764520829	missense variant	-	NC_000001.11:g.33370531C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Val156Met	rs764520829	missense variant	-	NC_000001.11:g.33370531C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Ser158Ala	rs761085676	missense variant	-	NC_000001.11:g.33370525A>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly163Asp	rs1408506441	missense variant	-	NC_000001.11:g.33370509C>T	TOPMed
PHC2	Q8IXK0	p.Ala165Thr	rs767748794	missense variant	-	NC_000001.11:g.33370504C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu171Ser	rs1461460647	missense variant	-	NC_000001.11:g.33370485A>G	gnomAD
PHC2	Q8IXK0	p.Asn173Lys	rs774575736	missense variant	-	NC_000001.11:g.33370478G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Asn173Asp	rs532970858	missense variant	-	NC_000001.11:g.33370480T>C	1000Genomes,ExAC,gnomAD
PHC2	Q8IXK0	p.Thr174Met	rs770954672	missense variant	-	NC_000001.11:g.33370476G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro177Gln	rs1222346541	missense variant	-	NC_000001.11:g.33370467G>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala178Val	rs1473100344	missense variant	-	NC_000001.11:g.33370464G>A	TOPMed
PHC2	Q8IXK0	p.Gln185Lys	rs1258457856	missense variant	-	NC_000001.11:g.33370444G>T	TOPMed
PHC2	Q8IXK0	p.Leu188Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33370434A>T	NCI-TCGA
PHC2	Q8IXK0	p.Arg189Lys	rs1337805435	missense variant	-	NC_000001.11:g.33370431C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Met192Thr	rs1294610129	missense variant	-	NC_000001.11:g.33370422A>G	TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu193Phe	rs1226149492	missense variant	-	NC_000001.11:g.33368622G>A	gnomAD
PHC2	Q8IXK0	p.Leu193Arg	rs1365637731	missense variant	-	NC_000001.11:g.33368621A>C	TOPMed
PHC2	Q8IXK0	p.Phe195Ser	COSM3419136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33368615A>G	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Thr196Lys	rs550318031	missense variant	-	NC_000001.11:g.33368612G>T	1000Genomes,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr196Met	rs550318031	missense variant	-	NC_000001.11:g.33368612G>A	1000Genomes,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro197Leu	rs1304714550	missense variant	-	NC_000001.11:g.33368609G>A	gnomAD
PHC2	Q8IXK0	p.Thr198Met	rs61760981	missense variant	-	NC_000001.11:g.33368606G>A	gnomAD
PHC2	Q8IXK0	p.Ala199Thr	rs1402546540	missense variant	-	NC_000001.11:g.33368604C>T	gnomAD
PHC2	Q8IXK0	p.Val201Ile	rs1385685839	missense variant	-	NC_000001.11:g.33368598C>T	gnomAD
PHC2	Q8IXK0	p.Ala202Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33368595C>T	NCI-TCGA
PHC2	Q8IXK0	p.Thr203Ala	rs774486203	missense variant	-	NC_000001.11:g.33368592T>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Thr203Ile	rs1431965795	missense variant	-	NC_000001.11:g.33368591G>A	gnomAD
PHC2	Q8IXK0	p.Val204Leu	COSM426121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33368589C>G	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Val204Met	rs1200562522	missense variant	-	NC_000001.11:g.33368589C>T	gnomAD
PHC2	Q8IXK0	p.Leu208Phe	rs1245511253	missense variant	-	NC_000001.11:g.33368577G>A	gnomAD
PHC2	Q8IXK0	p.Leu208Arg	rs1218492811	missense variant	-	NC_000001.11:g.33368576A>C	gnomAD
PHC2	Q8IXK0	p.Gly209Ser	rs531870057	missense variant	-	NC_000001.11:g.33368574C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly209Arg	rs531870057	missense variant	-	NC_000001.11:g.33368574C>G	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr210Ile	rs1326611914	missense variant	-	NC_000001.11:g.33368570G>A	gnomAD
PHC2	Q8IXK0	p.Gly211Asp	rs1284997742	missense variant	-	NC_000001.11:g.33368567C>T	gnomAD
PHC2	Q8IXK0	p.Pro213Thr	rs1004618854	missense variant	-	NC_000001.11:g.33368562G>T	TOPMed
PHC2	Q8IXK0	p.Ala214Val	rs1273019893	missense variant	-	NC_000001.11:g.33368558G>A	gnomAD
PHC2	Q8IXK0	p.Ala214Thr	rs888737353	missense variant	-	NC_000001.11:g.33368559C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg215Trp	rs763010320	missense variant	-	NC_000001.11:g.33368556G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg215Gln	rs1327168452	missense variant	-	NC_000001.11:g.33368555C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro216Thr	rs1317702063	missense variant	-	NC_000001.11:g.33368553G>T	gnomAD
PHC2	Q8IXK0	p.Thr218Ile	rs768611848	missense variant	-	NC_000001.11:g.33368546G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr218Asn	rs768611848	missense variant	-	NC_000001.11:g.33368546G>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro219His	rs1222487705	missense variant	-	NC_000001.11:g.33368543G>T	TOPMed
PHC2	Q8IXK0	p.Pro219Ser	rs1469627694	missense variant	-	NC_000001.11:g.33368544G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro219Ala	rs1469627694	missense variant	-	NC_000001.11:g.33368544G>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala220Thr	rs958187507	missense variant	-	NC_000001.11:g.33368541C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala220ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.33368542G>-	NCI-TCGA
PHC2	Q8IXK0	p.Val222Ile	rs1172957597	missense variant	-	NC_000001.11:g.33367428C>T	gnomAD
PHC2	Q8IXK0	p.Gln223His	rs191815163	missense variant	-	NC_000001.11:g.33367423C>G	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln223Glu	rs1391053769	missense variant	-	NC_000001.11:g.33367425G>C	TOPMed
PHC2	Q8IXK0	p.Asn224Lys	rs753100768	missense variant	-	NC_000001.11:g.33367420G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Thr226Ser	rs768013981	missense variant	-	NC_000001.11:g.33367416T>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr226Ala	rs768013981	missense variant	-	NC_000001.11:g.33367416T>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr226Ser	rs755274964	missense variant	-	NC_000001.11:g.33367415G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Leu227Phe	rs942698358	missense variant	-	NC_000001.11:g.33367413G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu227Val	rs942698358	missense variant	-	NC_000001.11:g.33367413G>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg228Gln	rs912594336	missense variant	-	NC_000001.11:g.33367409C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg228Ter	rs543761364	stop gained	-	NC_000001.11:g.33367410G>A	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr232Lys	rs986797722	missense variant	-	NC_000001.11:g.33367397G>T	TOPMed
PHC2	Q8IXK0	p.Pro233Ser	rs1401840934	missense variant	-	NC_000001.11:g.33367395G>A	gnomAD
PHC2	Q8IXK0	p.Ala234Val	rs201647557	missense variant	-	NC_000001.11:g.33367391G>A	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser238Leu	rs763128463	missense variant	-	NC_000001.11:g.33367379G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly239Arg	rs1361770546	missense variant	-	NC_000001.11:g.33367377C>G	gnomAD
PHC2	Q8IXK0	p.Gly239Val	rs376148208	missense variant	-	NC_000001.11:g.33367376C>A	ESP,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr241Ile	rs1300070282	missense variant	-	NC_000001.11:g.33367370G>A	gnomAD
PHC2	Q8IXK0	p.Thr241Asn	rs1300070282	missense variant	-	NC_000001.11:g.33367370G>T	gnomAD
PHC2	Q8IXK0	p.Pro242Arg	rs1443410320	missense variant	-	NC_000001.11:g.33367367G>C	gnomAD
PHC2	Q8IXK0	p.Pro242Ser	rs1221447342	missense variant	-	NC_000001.11:g.33367368G>A	TOPMed
PHC2	Q8IXK0	p.Thr243Ile	rs775225077	missense variant	-	NC_000001.11:g.33367364G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Gln244Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.33367362G>A	NCI-TCGA
PHC2	Q8IXK0	p.Pro245His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33367358G>T	NCI-TCGA
PHC2	Q8IXK0	p.Pro248Ser	rs1163639404	missense variant	-	NC_000001.11:g.33367350G>A	gnomAD
PHC2	Q8IXK0	p.Pro248Leu	rs1044422595	missense variant	-	NC_000001.11:g.33367349G>A	gnomAD
PHC2	Q8IXK0	p.Ser249Asn	rs372757555	missense variant	-	NC_000001.11:g.33367346C>T	ESP,ExAC,TOPMed
PHC2	Q8IXK0	p.Ala251Val	rs144272203	missense variant	-	NC_000001.11:g.33367340G>A	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu252Val	rs561418548	missense variant	-	NC_000001.11:g.33367338G>C	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu252Met	rs561418548	missense variant	-	NC_000001.11:g.33367338G>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro254Ala	rs10914692	missense variant	-	NC_000001.11:g.33367332G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro254Ser	rs10914692	missense variant	-	NC_000001.11:g.33367332G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro254Ser	rs10914692	missense variant	-	NC_000001.11:g.33367332G>A	UniProt,dbSNP
PHC2	Q8IXK0	p.Pro254Ser	VAR_051276	missense variant	-	NC_000001.11:g.33367332G>A	UniProt
PHC2	Q8IXK0	p.Thr255Met	rs202020305	missense variant	-	NC_000001.11:g.33367328G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro256Leu	rs369290284	missense variant	-	NC_000001.11:g.33367325G>A	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro256Ser	rs940831988	missense variant	-	NC_000001.11:g.33367326G>A	TOPMed
PHC2	Q8IXK0	p.Gly258Val	rs765504615	missense variant	-	NC_000001.11:g.33367319C>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly258Ser	rs750575593	missense variant	-	NC_000001.11:g.33367320C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly258Asp	rs765504615	missense variant	-	NC_000001.11:g.33367319C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Ser259Gly	rs761744207	missense variant	-	NC_000001.11:g.33367317T>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Gln260Arg	rs141924903	missense variant	-	NC_000001.11:g.33367313T>C	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro261Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33367310G>A	NCI-TCGA
PHC2	Q8IXK0	p.Pro263Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33367305G>A	NCI-TCGA
PHC2	Q8IXK0	p.Thr264Ala	rs767527812	missense variant	-	NC_000001.11:g.33367302T>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala266Thr	rs1444801339	missense variant	-	NC_000001.11:g.33367296C>T	TOPMed
PHC2	Q8IXK0	p.Ser268Arg	rs1456981308	missense variant	-	NC_000001.11:g.33367288G>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser268Gly	rs1293408491	missense variant	-	NC_000001.11:g.33367290T>C	gnomAD
PHC2	Q8IXK0	p.Ser268Asn	rs1238705570	missense variant	-	NC_000001.11:g.33367289C>T	TOPMed
PHC2	Q8IXK0	p.Thr271Ser	rs1261580064	missense variant	-	NC_000001.11:g.33367280G>C	gnomAD
PHC2	Q8IXK0	p.Thr271Ala	rs1436600897	missense variant	-	NC_000001.11:g.33367281T>C	TOPMed
PHC2	Q8IXK0	p.Ala274Val	rs774448648	missense variant	-	NC_000001.11:g.33367271G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala274Thr	rs200661676	missense variant	-	NC_000001.11:g.33367272C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser275Phe	rs770591243	missense variant	-	NC_000001.11:g.33367268G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro276Leu	rs772681089	missense variant	-	NC_000001.11:g.33367265G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala277GlnPheSerTerUnk	COSM5177044	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.33367264A>-	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Ala277Thr	rs747609035	missense variant	-	NC_000001.11:g.33367263C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly278Ser	rs1209103487	missense variant	-	NC_000001.11:g.33367260C>T	gnomAD
PHC2	Q8IXK0	p.Lys280Arg	COSM5053415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33367253T>C	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Ile283Arg	rs1203338020	missense variant	-	NC_000001.11:g.33367244A>C	gnomAD
PHC2	Q8IXK0	p.Ala284Val	rs1262564089	missense variant	-	NC_000001.11:g.33367241G>A	gnomAD
PHC2	Q8IXK0	p.Asp285Glu	rs780722222	missense variant	-	NC_000001.11:g.33367237G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Asp285Gly	rs1216848412	missense variant	-	NC_000001.11:g.33367238T>C	gnomAD
PHC2	Q8IXK0	p.Ser286Asn	rs1021348107	missense variant	-	NC_000001.11:g.33367235C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Val287Glu	rs1225761147	missense variant	-	NC_000001.11:g.33367232A>T	gnomAD
PHC2	Q8IXK0	p.Met288Ile	rs374691546	missense variant	-	NC_000001.11:g.33367228C>T	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Pro290Thr	rs267598559	missense variant	-	NC_000001.11:g.33367224G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro290Ser	rs267598559	missense variant	-	NC_000001.11:g.33367224G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Lys293Ile	rs1385593334	missense variant	-	NC_000001.11:g.33367214T>A	gnomAD
PHC2	Q8IXK0	p.Gly296Val	rs988642007	missense variant	-	NC_000001.11:g.33367205C>A	TOPMed
PHC2	Q8IXK0	p.Asn297Ser	rs1364954396	missense variant	-	NC_000001.11:g.33367202T>C	gnomAD
PHC2	Q8IXK0	p.Ser298Arg	rs750884230	missense variant	-	NC_000001.11:g.33367200T>G	-
PHC2	Q8IXK0	p.Ser299Arg	rs137976642	missense variant	-	NC_000001.11:g.33367197T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Val300Met	rs758627496	missense variant	-	NC_000001.11:g.33367194C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Val300Ala	rs1387490265	missense variant	-	NC_000001.11:g.33367193A>G	gnomAD
PHC2	Q8IXK0	p.Pro301Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33367191G>A	NCI-TCGA
PHC2	Q8IXK0	p.Gly302Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33367188C>T	NCI-TCGA
PHC2	Q8IXK0	p.Met304Ile	rs778992382	missense variant	-	NC_000001.11:g.33367180C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Met304Thr	rs141081946	missense variant	-	NC_000001.11:g.33367181A>G	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly306Asp	COSM269877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33367175C>T	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Arg307Gln	rs765961408	missense variant	-	NC_000001.11:g.33367172C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg307Trp	rs757536681	missense variant	-	NC_000001.11:g.33367173G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu310Val	rs150980242	missense variant	-	NC_000001.11:g.33367164G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser311Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33367161T>G	NCI-TCGA
PHC2	Q8IXK0	p.Arg312Trp	rs764861698	missense variant	-	NC_000001.11:g.33367158G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg312Gly	rs764861698	missense variant	-	NC_000001.11:g.33367158G>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg312Gln	rs555828655	missense variant	-	NC_000001.11:g.33367157C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr313Met	rs41265895	missense variant	-	NC_000001.11:g.33367154G>A	1000Genomes,ExAC,gnomAD
PHC2	Q8IXK0	p.Pro315Ser	rs776559838	missense variant	-	NC_000001.11:g.33367149G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala316Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33367145G>A	NCI-TCGA
PHC2	Q8IXK0	p.Ala316Gly	rs1222156602	missense variant	-	NC_000001.11:g.33367145G>C	TOPMed
PHC2	Q8IXK0	p.Ala319Ser	rs1363750051	missense variant	-	NC_000001.11:g.33367137C>A	gnomAD
PHC2	Q8IXK0	p.Ala319Gly	rs768114479	missense variant	-	NC_000001.11:g.33367136G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.His320Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33367134G>A	NCI-TCGA
PHC2	Q8IXK0	p.His320Pro	rs746531009	missense variant	-	NC_000001.11:g.33367133T>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro321His	rs376469270	missense variant	-	NC_000001.11:g.33367130G>T	ESP,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu322Val	rs1171755913	missense variant	-	NC_000001.11:g.33367128G>C	gnomAD
PHC2	Q8IXK0	p.Leu322Phe	rs1171755913	missense variant	-	NC_000001.11:g.33367128G>A	gnomAD
PHC2	Q8IXK0	p.Ile323Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33367124A>G	NCI-TCGA
PHC2	Q8IXK0	p.Ile323Val	rs757581155	missense variant	-	NC_000001.11:g.33367125T>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Ile323Leu	rs757581155	missense variant	-	NC_000001.11:g.33367125T>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala326Val	rs1224108839	missense variant	-	NC_000001.11:g.33355253G>A	gnomAD
PHC2	Q8IXK0	p.Tyr327His	rs1283240332	missense variant	-	NC_000001.11:g.33355251A>G	gnomAD
PHC2	Q8IXK0	p.Ala328Val	rs1337372739	missense variant	-	NC_000001.11:g.33355247G>A	gnomAD
PHC2	Q8IXK0	p.Gln331Ter	rs1386320158	stop gained	-	NC_000001.11:g.33355239G>A	gnomAD
PHC2	Q8IXK0	p.His333Arg	rs1409182201	missense variant	-	NC_000001.11:g.33355232T>C	gnomAD
PHC2	Q8IXK0	p.Gln334Ter	rs1368669368	stop gained	-	NC_000001.11:g.33355230G>A	gnomAD
PHC2	Q8IXK0	p.Leu335Arg	rs911993776	missense variant	-	NC_000001.11:g.33355226A>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu336Phe	rs752311590	missense variant	-	NC_000001.11:g.33355224G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Leu336Ile	rs752311590	missense variant	-	NC_000001.11:g.33355224G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Ser340Phe	rs1183336305	missense variant	-	NC_000001.11:g.33355211G>A	gnomAD
PHC2	Q8IXK0	p.Ser341Leu	rs1053229985	missense variant	-	NC_000001.11:g.33355208G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.His343Tyr	rs1181870496	missense variant	-	NC_000001.11:g.33355203G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln347His	COSM908428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33355189T>A	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Gln353Pro	rs1014508515	missense variant	-	NC_000001.11:g.33355172T>G	TOPMed
PHC2	Q8IXK0	p.Pro356Ser	rs1005965573	missense variant	-	NC_000001.11:g.33355164G>A	TOPMed
PHC2	Q8IXK0	p.Gln357Lys	rs763404025	missense variant	-	NC_000001.11:g.33355161G>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln357Glu	rs763404025	missense variant	-	NC_000001.11:g.33355161G>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln359His	rs1352358504	missense variant	-	NC_000001.11:g.33355153C>A	gnomAD
PHC2	Q8IXK0	p.Gln360Pro	rs934728464	missense variant	-	NC_000001.11:g.33355151T>G	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln360His	rs1308168103	missense variant	-	NC_000001.11:g.33355150C>G	TOPMed
PHC2	Q8IXK0	p.Pro361Leu	rs138345405	missense variant	-	NC_000001.11:g.33355148G>A	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro361Gln	rs138345405	missense variant	-	NC_000001.11:g.33355148G>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro362Ser	rs1196489668	missense variant	-	NC_000001.11:g.33355146G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro362Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33355145G>A	NCI-TCGA
PHC2	Q8IXK0	p.Pro362Arg	rs781302456	missense variant	-	NC_000001.11:g.33355145G>C	ExAC
PHC2	Q8IXK0	p.Pro363Leu	rs1348336970	missense variant	-	NC_000001.11:g.33355142G>A	gnomAD
PHC2	Q8IXK0	p.Gln365His	rs537365784	missense variant	-	NC_000001.11:g.33355135C>G	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser366Pro	rs1330654767	missense variant	-	NC_000001.11:g.33355134A>G	gnomAD
PHC2	Q8IXK0	p.Arg367Pro	rs146515869	missense variant	-	NC_000001.11:g.33355130C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg367Gln	rs146515869	missense variant	-	NC_000001.11:g.33355130C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg367Trp	rs1402700291	missense variant	-	NC_000001.11:g.33355131G>A	gnomAD
PHC2	Q8IXK0	p.Pro368Leu	rs375331961	missense variant	-	NC_000001.11:g.33355127G>A	ESP,TOPMed,gnomAD
PHC2	Q8IXK0	p.Val369Leu	rs753601535	missense variant	-	NC_000001.11:g.33355125C>G	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Val369Met	rs753601535	missense variant	-	NC_000001.11:g.33355125C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu370Pro	rs1431898843	missense variant	-	NC_000001.11:g.33355121A>G	gnomAD
PHC2	Q8IXK0	p.His375Tyr	rs777492781	missense variant	-	NC_000001.11:g.33355107G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.His375Gln	rs755931133	missense variant	-	NC_000001.11:g.33355105G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Gln377Lys	rs1465824425	missense variant	-	NC_000001.11:g.33355101G>T	gnomAD
PHC2	Q8IXK0	p.Leu378His	rs1248277370	missense variant	-	NC_000001.11:g.33355097A>T	gnomAD
PHC2	Q8IXK0	p.Ala379Thr	rs767085287	missense variant	-	NC_000001.11:g.33355095C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Ser382Cys	rs759072376	missense variant	-	NC_000001.11:g.33355085G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro383Ser	rs751096480	missense variant	-	NC_000001.11:g.33355083G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro383Leu	rs1268137531	missense variant	-	NC_000001.11:g.33355082G>A	TOPMed
PHC2	Q8IXK0	p.Ser384Thr	rs1344176631	missense variant	-	NC_000001.11:g.33355079C>G	gnomAD
PHC2	Q8IXK0	p.Val385Met	rs763601829	missense variant	-	NC_000001.11:g.33355077C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala386Thr	rs770244880	missense variant	-	NC_000001.11:g.33355074C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala386Ser	rs770244880	missense variant	-	NC_000001.11:g.33355074C>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala386Val	rs1320220099	missense variant	-	NC_000001.11:g.33355073G>A	gnomAD
PHC2	Q8IXK0	p.His394Tyr	rs1408825235	missense variant	-	NC_000001.11:g.33355050G>A	gnomAD
PHC2	Q8IXK0	p.Ala395Thr	rs1310907180	missense variant	-	NC_000001.11:g.33355047C>T	gnomAD
PHC2	Q8IXK0	p.Met396Val	rs768822816	missense variant	-	NC_000001.11:g.33355044T>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Met396Leu	rs768822816	missense variant	-	NC_000001.11:g.33355044T>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro400Leu	rs146954923	missense variant	-	NC_000001.11:g.33355031G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro403Ser	rs777688734	missense variant	-	NC_000001.11:g.33355023G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala404Pro	rs747950368	missense variant	-	NC_000001.11:g.33355020C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala404Thr	rs747950368	missense variant	-	NC_000001.11:g.33355020C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro406Gln	COSM464464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33355013G>T	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Leu407Pro	rs1331250531	missense variant	-	NC_000001.11:g.33355010A>G	TOPMed
PHC2	Q8IXK0	p.Leu407Phe	rs950520119	missense variant	-	NC_000001.11:g.33355011G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu407Val	rs950520119	missense variant	-	NC_000001.11:g.33355011G>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln408His	rs1324872429	missense variant	-	NC_000001.11:g.33355006C>G	TOPMed
PHC2	Q8IXK0	p.Leu414Met	rs754624598	missense variant	-	NC_000001.11:g.33354990G>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.His415Gln	rs1296938100	missense variant	-	NC_000001.11:g.33354985G>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly418Asp	rs1298009693	missense variant	-	NC_000001.11:g.33354977C>T	TOPMed
PHC2	Q8IXK0	p.Gly419Ser	rs765939608	missense variant	-	NC_000001.11:g.33354975C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser420Arg	rs1477782782	missense variant	-	NC_000001.11:g.33354972T>G	TOPMed
PHC2	Q8IXK0	p.Cys423Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33354962C>T	NCI-TCGA
PHC2	Q8IXK0	p.Pro426Ala	rs1357723708	missense variant	-	NC_000001.11:g.33354954G>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr427Ile	rs199932964	missense variant	-	NC_000001.11:g.33354950G>A	ESP,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr427Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33354950G>T	NCI-TCGA
PHC2	Q8IXK0	p.Pro428Arg	rs1370685763	missense variant	-	NC_000001.11:g.33354947G>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro428Leu	rs1370685763	missense variant	-	NC_000001.11:g.33354947G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly431Glu	rs1447087342	missense variant	-	NC_000001.11:g.33354938C>T	gnomAD
PHC2	Q8IXK0	p.Gly435Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33354926C>T	NCI-TCGA
PHC2	Q8IXK0	p.Glu438Lys	rs202093854	missense variant	-	NC_000001.11:g.33354918C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Glu438Gly	rs764348786	missense variant	-	NC_000001.11:g.33354917T>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly439Ala	rs1207269080	missense variant	-	NC_000001.11:g.33354914C>G	gnomAD
PHC2	Q8IXK0	p.Val440Met	rs146737581	missense variant	-	NC_000001.11:g.33354912C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Val440Leu	rs146737581	missense variant	-	NC_000001.11:g.33354912C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro441Ser	rs769686110	missense variant	-	NC_000001.11:g.33354909G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro441Thr	rs769686110	missense variant	-	NC_000001.11:g.33354909G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Thr443Pro	rs1276130594	missense variant	-	NC_000001.11:g.33354903T>G	TOPMed
PHC2	Q8IXK0	p.Pro444Ser	rs1227959015	missense variant	-	NC_000001.11:g.33354900G>A	gnomAD
PHC2	Q8IXK0	p.Gln445His	rs1224566737	missense variant	-	NC_000001.11:g.33354895T>G	TOPMed
PHC2	Q8IXK0	p.Arg446Leu	rs780516656	missense variant	-	NC_000001.11:g.33354893C>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg446His	rs780516656	missense variant	-	NC_000001.11:g.33354893C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg446Cys	rs754823498	missense variant	-	NC_000001.11:g.33354894G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Phe448Leu	rs1356933076	missense variant	-	NC_000001.11:g.33354886G>C	gnomAD
PHC2	Q8IXK0	p.Ala453Thr	COSM908427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33354873C>T	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Gln457Glu	rs139804561	missense variant	-	NC_000001.11:g.33354861G>C	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln457Lys	rs139804561	missense variant	-	NC_000001.11:g.33354861G>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln459Pro	rs1165124399	missense variant	-	NC_000001.11:g.33354854T>G	gnomAD
PHC2	Q8IXK0	p.Gln459Ter	rs1351049395	stop gained	-	NC_000001.11:g.33354855G>A	gnomAD
PHC2	Q8IXK0	p.Pro463Arg	rs1404372420	missense variant	-	NC_000001.11:g.33354842G>C	gnomAD
PHC2	Q8IXK0	p.Pro464Thr	rs1348183276	missense variant	-	NC_000001.11:g.33354566G>T	TOPMed
PHC2	Q8IXK0	p.Pro464His	rs1236121748	missense variant	-	NC_000001.11:g.33354565G>T	gnomAD
PHC2	Q8IXK0	p.Pro464Arg	rs1236121748	missense variant	-	NC_000001.11:g.33354565G>C	gnomAD
PHC2	Q8IXK0	p.Gln465His	rs961964682	missense variant	-	NC_000001.11:g.33354561C>G	gnomAD
PHC2	Q8IXK0	p.Gln466His	COSM1341908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33354558C>A	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Gln466Glu	rs754228118	missense variant	-	NC_000001.11:g.33354560G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Val468Ile	rs964368741	missense variant	-	NC_000001.11:g.33354554C>T	TOPMed
PHC2	Q8IXK0	p.Pro469His	rs1368067191	missense variant	-	NC_000001.11:g.33354550G>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Asp471Asn	rs142759750	missense variant	-	NC_000001.11:g.33354545C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Lys473Gln	rs1435350978	missense variant	-	NC_000001.11:g.33354539T>G	gnomAD
PHC2	Q8IXK0	p.Glu474Gly	rs1286864575	missense variant	-	NC_000001.11:g.33354535T>C	gnomAD
PHC2	Q8IXK0	p.Glu474Lys	rs756452509	missense variant	-	NC_000001.11:g.33354536C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Val475Gly	rs1378153704	missense variant	-	NC_000001.11:g.33354532A>C	gnomAD
PHC2	Q8IXK0	p.Val475Met	rs12026290	missense variant	-	NC_000001.11:g.33354533C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Val475Met	rs12026290	missense variant	-	NC_000001.11:g.33354533C>T	UniProt,dbSNP
PHC2	Q8IXK0	p.Val475Met	VAR_051277	missense variant	-	NC_000001.11:g.33354533C>T	UniProt
PHC2	Q8IXK0	p.Pro477Ala	rs767694862	missense variant	-	NC_000001.11:g.33354527G>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Glu479Lys	rs1431514961	missense variant	-	NC_000001.11:g.33354521C>T	gnomAD
PHC2	Q8IXK0	p.Ser481Thr	rs759803355	missense variant	-	NC_000001.11:g.33354514C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Val482Met	rs1189517668	missense variant	-	NC_000001.11:g.33354512C>T	gnomAD
PHC2	Q8IXK0	p.Glu484Gln	rs1246380435	missense variant	-	NC_000001.11:g.33354506C>G	gnomAD
PHC2	Q8IXK0	p.Thr485Met	rs766329171	missense variant	-	NC_000001.11:g.33354502G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr485TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.33354503_33354504insA	NCI-TCGA
PHC2	Q8IXK0	p.Arg486Gln	rs370173676	missense variant	-	NC_000001.11:g.33354499C>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg486Trp	rs776377447	missense variant	-	NC_000001.11:g.33354500G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg486Pro	rs370173676	missense variant	-	NC_000001.11:g.33354499C>G	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro489Ser	rs1299155576	missense variant	-	NC_000001.11:g.33354491G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro489Leu	rs771832823	missense variant	-	NC_000001.11:g.33354490G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro491Leu	rs1365668245	missense variant	-	NC_000001.11:g.33354484G>A	TOPMed
PHC2	Q8IXK0	p.His492Tyr	rs770286543	missense variant	-	NC_000001.11:g.33354482G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.His492Gln	rs373301304	missense variant	-	NC_000001.11:g.33354480A>T	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Gln494Ter	rs778134188	stop gained	-	NC_000001.11:g.33354476G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala495Asp	rs149267683	missense variant	-	NC_000001.11:g.33354472G>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala495Thr	rs756652680	missense variant	-	NC_000001.11:g.33354473C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Ile496Thr	rs781485920	missense variant	-	NC_000001.11:g.33354469A>G	ExAC,TOPMed
PHC2	Q8IXK0	p.Val497Ala	rs755364983	missense variant	-	NC_000001.11:g.33354466A>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly503Ala	rs766639176	missense variant	-	NC_000001.11:g.33354448C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly503Ser	rs1189801248	missense variant	-	NC_000001.11:g.33354449C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly503Asp	rs766639176	missense variant	-	NC_000001.11:g.33354448C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro507Leu	rs1199298203	missense variant	-	NC_000001.11:g.33354436G>A	gnomAD
PHC2	Q8IXK0	p.Thr508Arg	rs150120585	missense variant	-	NC_000001.11:g.33354433G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr508Met	rs150120585	missense variant	-	NC_000001.11:g.33354433G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser509Thr	rs140452537	missense variant	-	NC_000001.11:g.33354430C>G	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ile512Thr	rs773858664	missense variant	-	NC_000001.11:g.33354421A>G	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ile512Val	rs1001084085	missense variant	-	NC_000001.11:g.33354422T>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro514Leu	rs143148806	missense variant	-	NC_000001.11:g.33354415G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro514Ser	rs770679575	missense variant	-	NC_000001.11:g.33354416G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro516Ser	rs140045583	missense variant	-	NC_000001.11:g.33354410G>A	1000Genomes,gnomAD
PHC2	Q8IXK0	p.Ala517Val	rs748613999	missense variant	-	NC_000001.11:g.33354406G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala517Ser	rs145232419	missense variant	-	NC_000001.11:g.33354407C>A	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.His518Tyr	rs781666432	missense variant	-	NC_000001.11:g.33354404G>A	ExAC
PHC2	Q8IXK0	p.Glu519Lys	rs948174580	missense variant	-	NC_000001.11:g.33354401C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Glu519Asp	rs772882863	missense variant	-	NC_000001.11:g.33334291C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly521Glu	rs1366239481	missense variant	-	NC_000001.11:g.33334286C>T	gnomAD
PHC2	Q8IXK0	p.Gly523Val	rs769226746	missense variant	-	NC_000001.11:g.33334280C>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly523Ser	rs1297067937	missense variant	-	NC_000001.11:g.33334281C>T	gnomAD
PHC2	Q8IXK0	p.Ile524Thr	rs144906275	missense variant	-	NC_000001.11:g.33334277A>G	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.His526Gln	rs1414377905	missense variant	-	NC_000001.11:g.33334270A>T	gnomAD
PHC2	Q8IXK0	p.His526Asp	rs1395542140	missense variant	-	NC_000001.11:g.33334272G>C	TOPMed
PHC2	Q8IXK0	p.Thr529Ile	rs372578094	missense variant	-	NC_000001.11:g.33334262G>A	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Asp530Asn	rs375446225	missense variant	-	NC_000001.11:g.33334260C>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu531Phe	rs147330538	missense variant	-	NC_000001.11:g.33334257G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser533Ile	rs758715305	missense variant	-	NC_000001.11:g.33334250C>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly535Ser	rs779285846	missense variant	-	NC_000001.11:g.33334245C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Met536Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33334240C>T	NCI-TCGA
PHC2	Q8IXK0	p.Gly541Arg	rs754988377	missense variant	-	NC_000001.11:g.33334227C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Asn542Thr	rs1254561651	missense variant	-	NC_000001.11:g.33334223T>G	TOPMed
PHC2	Q8IXK0	p.Asn542Lys	rs538214036	missense variant	-	NC_000001.11:g.33334222G>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Asn542Lys	rs538214036	missense variant	-	NC_000001.11:g.33334222G>C	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser543Pro	rs1272648177	missense variant	-	NC_000001.11:g.33334221A>G	gnomAD
PHC2	Q8IXK0	p.Ser545Tyr	rs1381856996	missense variant	-	NC_000001.11:g.33334214G>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser546Thr	rs1284379555	missense variant	-	NC_000001.11:g.33334211C>G	TOPMed
PHC2	Q8IXK0	p.Ile547Val	rs990272636	missense variant	-	NC_000001.11:g.33334209T>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ile547Thr	rs1447704558	missense variant	-	NC_000001.11:g.33334208A>G	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala548Val	rs1372163858	missense variant	-	NC_000001.11:g.33334205G>A	TOPMed
PHC2	Q8IXK0	p.Ala548Thr	rs115905637	missense variant	-	NC_000001.11:g.33334206C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly549Ser	rs764928189	missense variant	-	NC_000001.11:g.33334203C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Thr550Ile	rs372267280	missense variant	-	NC_000001.11:g.33334199G>A	ESP,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro552Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33334193G>C	NCI-TCGA
PHC2	Q8IXK0	p.Asn557Lys	COSM6126587	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33334177A>T	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Ala562Thr	rs1225756518	missense variant	-	NC_000001.11:g.33334164C>T	gnomAD
PHC2	Q8IXK0	p.Ile563Leu	rs761307929	missense variant	-	NC_000001.11:g.33334161T>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Ile563Thr	rs776160542	missense variant	-	NC_000001.11:g.33334160A>G	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Val564Leu	rs761198066	missense variant	-	NC_000001.11:g.33334158C>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Thr570Met	rs1184251596	missense variant	-	NC_000001.11:g.33334139G>A	gnomAD
PHC2	Q8IXK0	p.Ile573Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33334129G>C	NCI-TCGA
PHC2	Q8IXK0	p.Glu574Asp	COSM4031593	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33334126T>G	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Glu574Lys	rs980106149	missense variant	-	NC_000001.11:g.33334128C>T	TOPMed
PHC2	Q8IXK0	p.Phe576Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33334121A>G	NCI-TCGA
PHC2	Q8IXK0	p.Ala582Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33334103G>T	NCI-TCGA
PHC2	Q8IXK0	p.Ala582GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.33334103_33334104insC	NCI-TCGA
PHC2	Q8IXK0	p.Ala582Val	rs1172925816	missense variant	-	NC_000001.11:g.33334103G>A	TOPMed
PHC2	Q8IXK0	p.Pro584Ala	rs779269503	missense variant	-	NC_000001.11:g.33334098G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro586Leu	rs771315460	missense variant	-	NC_000001.11:g.33334091G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg589Cys	rs1382573217	missense variant	-	NC_000001.11:g.33332398G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg589His	rs368044247	missense variant	-	NC_000001.11:g.33332397C>T	1000Genomes,ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Asn596Ser	rs773468717	missense variant	-	NC_000001.11:g.33332376T>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Gln603His	rs776624702	missense variant	-	NC_000001.11:g.33332354C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly604Ala	rs745769042	missense variant	-	NC_000001.11:g.33332352C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly604Glu	rs745769042	missense variant	-	NC_000001.11:g.33332352C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Phe605LeuPheSerTerUnkUnkUnk	COSM1341907	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.33332348_33332349insAACCC	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Glu608Lys	rs1185714114	missense variant	-	NC_000001.11:g.33332341C>T	TOPMed
PHC2	Q8IXK0	p.Lys609Ile	rs1209541400	missense variant	-	NC_000001.11:g.33332337T>A	gnomAD
PHC2	Q8IXK0	p.Leu610Phe	rs777446850	missense variant	-	NC_000001.11:g.33332335G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro611Leu	rs755767833	missense variant	-	NC_000001.11:g.33332331G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro611Arg	rs755767833	missense variant	-	NC_000001.11:g.33332331G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Asp614Tyr	rs1227691467	missense variant	-	NC_000001.11:g.33332323C>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr616Ile	rs752414303	missense variant	-	NC_000001.11:g.33332316G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Ser621Leu	COSM1473881	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33332301G>A	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Pro626Ser	rs767049572	missense variant	-	NC_000001.11:g.33332287G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Tyr627Cys	rs1432948041	missense variant	-	NC_000001.11:g.33332283T>C	gnomAD
PHC2	Q8IXK0	p.Lys632Arg	rs1215174266	missense variant	-	NC_000001.11:g.33331456T>C	gnomAD
PHC2	Q8IXK0	p.Glu634Asp	rs1468794896	missense variant	-	NC_000001.11:g.33331449C>A	gnomAD
PHC2	Q8IXK0	p.Gly635Asp	rs775592218	missense variant	-	NC_000001.11:g.33331447C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Gly635Ser	rs1272277625	missense variant	-	NC_000001.11:g.33331448C>T	gnomAD
PHC2	Q8IXK0	p.Pro637Ser	COSM3865354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331442G>A	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Pro637Leu	COSM4402472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331441G>A	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Leu640Phe	rs1331166219	missense variant	-	NC_000001.11:g.33331433G>A	gnomAD
PHC2	Q8IXK0	p.Glu643Ala	COSM3804991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331423T>G	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Glu643Lys	COSM3804993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331424C>T	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Leu644Arg	COSM4396651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33331420A>C	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Leu644Phe	rs145272571	missense variant	-	NC_000001.11:g.33331421G>A	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg647Gln	rs762757266	missense variant	-	NC_000001.11:g.33331411C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Asp649Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33331404G>T	NCI-TCGA
PHC2	Q8IXK0	p.Phe650Val	rs773204156	missense variant	-	NC_000001.11:g.33331403A>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala651Ser	rs769415894	missense variant	-	NC_000001.11:g.33331400C>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Tyr652Cys	rs138740026	missense variant	-	NC_000001.11:g.33331396T>C	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg656His	rs1324338884	missense variant	-	NC_000001.11:g.33331384C>T	gnomAD
PHC2	Q8IXK0	p.Arg656Cys	rs1207612057	missense variant	-	NC_000001.11:g.33331385G>A	TOPMed
PHC2	Q8IXK0	p.Lys658Arg	rs1459113984	missense variant	-	NC_000001.11:g.33331378T>C	gnomAD
PHC2	Q8IXK0	p.Arg659Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33331376G>A	NCI-TCGA
PHC2	Q8IXK0	p.Arg659His	rs780986416	missense variant	-	NC_000001.11:g.33331375C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Ser662Thr	rs1311223680	missense variant	-	NC_000001.11:g.33331367A>T	TOPMed
PHC2	Q8IXK0	p.Ala664Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33331361C>T	NCI-TCGA
PHC2	Q8IXK0	p.Cys665Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33331358A>T	NCI-TCGA
PHC2	Q8IXK0	p.Arg668Gly	rs1361547906	missense variant	-	NC_000001.11:g.33331349T>C	gnomAD
PHC2	Q8IXK0	p.Val671Leu	COSM1473880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33330205C>A	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Arg676Trp	rs745443991	missense variant	-	NC_000001.11:g.33330190G>A	ExAC,TOPMed
PHC2	Q8IXK0	p.Val677Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33330187C>T	NCI-TCGA
PHC2	Q8IXK0	p.His681Gln	rs201259039	missense variant	-	NC_000001.11:g.33330173G>T	1000Genomes,ExAC,TOPMed
PHC2	Q8IXK0	p.Arg684Gly	rs1363155547	missense variant	-	NC_000001.11:g.33330166G>C	gnomAD
PHC2	Q8IXK0	p.Arg684Gln	rs201777764	missense variant	-	NC_000001.11:g.33330165C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Lys686Asn	rs756472581	missense variant	-	NC_000001.11:g.33330158C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Lys689Thr	rs545840185	missense variant	-	NC_000001.11:g.33330150T>G	1000Genomes,ExAC,gnomAD
PHC2	Q8IXK0	p.Ala692Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33330141G>T	NCI-TCGA
PHC2	Q8IXK0	p.Ala693Val	rs765062816	missense variant	-	NC_000001.11:g.33330138G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala693Thr	rs751699611	missense variant	-	NC_000001.11:g.33330139C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg697Cys	rs376159510	missense variant	-	NC_000001.11:g.33330127G>A	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg697His	rs530539754	missense variant	-	NC_000001.11:g.33330126C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg698His	rs374006014	missense variant	-	NC_000001.11:g.33330123C>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg698Cys	rs775270874	missense variant	-	NC_000001.11:g.33330124G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg699Gly	rs773965245	missense variant	-	NC_000001.11:g.33330121G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg699Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33330120C>T	NCI-TCGA
PHC2	Q8IXK0	p.Arg699Trp	rs773965245	missense variant	-	NC_000001.11:g.33330121G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala703Gly	rs1485419056	missense variant	-	NC_000001.11:g.33330108G>C	gnomAD
PHC2	Q8IXK0	p.Ser704Ile	rs1162394641	missense variant	-	NC_000001.11:g.33330105C>A	TOPMed
PHC2	Q8IXK0	p.Pro706Leu	rs369850251	missense variant	-	NC_000001.11:g.33330099G>A	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro706Gln	rs369850251	missense variant	-	NC_000001.11:g.33330099G>T	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro707Ser	rs778264042	missense variant	-	NC_000001.11:g.33330097G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Leu708Pro	rs756454461	missense variant	-	NC_000001.11:g.33330093A>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Thr709Ile	rs1184991312	missense variant	-	NC_000001.11:g.33330090G>A	TOPMed
PHC2	Q8IXK0	p.Lys710Arg	rs1272486308	missense variant	-	NC_000001.11:g.33330087T>C	gnomAD
PHC2	Q8IXK0	p.Lys710Asn	COSM1341905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33330086C>A	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Thr712Ile	rs906621985	missense variant	-	NC_000001.11:g.33330081G>A	TOPMed
PHC2	Q8IXK0	p.Lys713Arg	rs1236993039	missense variant	-	NC_000001.11:g.33330078T>C	TOPMed
PHC2	Q8IXK0	p.Gln715Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.33330073G>A	NCI-TCGA
PHC2	Q8IXK0	p.Thr717Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33329142G>A	NCI-TCGA
PHC2	Q8IXK0	p.Gly718Ser	rs748499666	missense variant	-	NC_000001.11:g.33329140C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Val720Met	COSM292660	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33329134C>T	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Pro721Ser	rs1419807753	missense variant	-	NC_000001.11:g.33329131G>A	gnomAD
PHC2	Q8IXK0	p.Leu722Pro	rs1175738034	missense variant	-	NC_000001.11:g.33329127A>G	gnomAD
PHC2	Q8IXK0	p.Leu722Phe	rs781563100	missense variant	-	NC_000001.11:g.33329128G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Ser723Leu	rs768906786	missense variant	-	NC_000001.11:g.33329124G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Leu728Trp	rs780160242	missense variant	-	NC_000001.11:g.33329109A>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Gln729Ter	rs1263090823	stop gained	-	NC_000001.11:g.33329107G>A	gnomAD
PHC2	Q8IXK0	p.Thr731Ser	rs1317039997	missense variant	-	NC_000001.11:g.33329101T>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Thr731Lys	rs750569019	missense variant	-	NC_000001.11:g.33329100G>T	ExAC,gnomAD
PHC2	Q8IXK0	p.His732Tyr	rs1030766600	missense variant	-	NC_000001.11:g.33329098G>A	TOPMed
PHC2	Q8IXK0	p.Asp736Val	rs756174825	missense variant	-	NC_000001.11:g.33329085T>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg739His	rs752585543	missense variant	-	NC_000001.11:g.33329076C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Pro749Ser	rs767307502	missense variant	-	NC_000001.11:g.33329047G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro749Ala	rs767307502	missense variant	-	NC_000001.11:g.33329047G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Leu750Phe	COSM72166	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33329042C>G	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Pro752His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33329037G>T	NCI-TCGA
PHC2	Q8IXK0	p.Ile753Val	rs1294657850	missense variant	-	NC_000001.11:g.33329035T>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ile753Met	rs376869490	missense variant	-	NC_000001.11:g.33329033G>C	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala755Asp	rs997492902	missense variant	-	NC_000001.11:g.33329028G>T	TOPMed
PHC2	Q8IXK0	p.Thr759Ile	rs1395928559	missense variant	-	NC_000001.11:g.33329016G>A	gnomAD
PHC2	Q8IXK0	p.Thr759Ala	rs1436600194	missense variant	-	NC_000001.11:g.33329017T>C	gnomAD
PHC2	Q8IXK0	p.Ser760Ala	rs1193241428	missense variant	-	NC_000001.11:g.33329014A>C	gnomAD
PHC2	Q8IXK0	p.Arg761Cys	rs766062595	missense variant	-	NC_000001.11:g.33329011G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg761His	rs762446973	missense variant	-	NC_000001.11:g.33329010C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg761Pro	rs762446973	missense variant	-	NC_000001.11:g.33329010C>G	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg762Trp	rs1187659551	missense variant	-	NC_000001.11:g.33329008G>A	gnomAD
PHC2	Q8IXK0	p.Arg762Gln	rs1485846230	missense variant	-	NC_000001.11:g.33329007C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg763Ter	rs1330030515	stop gained	-	NC_000001.11:g.33329005G>A	TOPMed
PHC2	Q8IXK0	p.Arg763Gln	rs752781137	missense variant	-	NC_000001.11:g.33329004C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Gly765Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33328998C>T	NCI-TCGA
PHC2	Q8IXK0	p.Arg767Trp	rs769308373	missense variant	-	NC_000001.11:g.33328993G>A	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg767Gln	rs1349411236	missense variant	-	NC_000001.11:g.33328992C>T	gnomAD
PHC2	Q8IXK0	p.Asp768Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33328989T>A	NCI-TCGA
PHC2	Q8IXK0	p.Leu769Val	rs762240475	missense variant	-	NC_000001.11:g.33328987G>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Leu771Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33328980A>C	NCI-TCGA
PHC2	Q8IXK0	p.Leu771Phe	rs769014714	missense variant	-	NC_000001.11:g.33328981G>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Pro772Ser	rs1382525651	missense variant	-	NC_000001.11:g.33328978G>A	gnomAD
PHC2	Q8IXK0	p.Asp773Asn	rs1296199111	missense variant	-	NC_000001.11:g.33328975C>T	gnomAD
PHC2	Q8IXK0	p.Met774Val	rs147872861	missense variant	-	NC_000001.11:g.33328972T>C	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.His775Arg	rs1414711138	missense variant	-	NC_000001.11:g.33328968T>C	TOPMed
PHC2	Q8IXK0	p.Met776Thr	rs780290164	missense variant	-	NC_000001.11:g.33328965A>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg777Trp	rs199838218	missense variant	-	NC_000001.11:g.33328963G>A	-
PHC2	Q8IXK0	p.Arg777Gln	rs755452186	missense variant	-	NC_000001.11:g.33328962C>T	TOPMed,gnomAD
PHC2	Q8IXK0	p.Asp778His	rs1464705973	missense variant	-	NC_000001.11:g.33328960C>G	gnomAD
PHC2	Q8IXK0	p.Leu779Val	rs540456341	missense variant	-	NC_000001.11:g.33328957G>C	1000Genomes,ExAC,gnomAD
PHC2	Q8IXK0	p.Val780Leu	rs367846878	missense variant	-	NC_000001.11:g.33328954C>G	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Val780Glu	rs533362430	missense variant	-	NC_000001.11:g.33328953A>T	gnomAD
PHC2	Q8IXK0	p.Met782Val	rs1211812279	missense variant	-	NC_000001.11:g.33328948T>C	TOPMed
PHC2	Q8IXK0	p.Gly783Arg	rs757449007	missense variant	-	NC_000001.11:g.33328945C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.His784Asn	rs1484952740	missense variant	-	NC_000001.11:g.33328942G>T	TOPMed
PHC2	Q8IXK0	p.His784Arg	rs142354689	missense variant	-	NC_000001.11:g.33328941T>C	ESP,TOPMed
PHC2	Q8IXK0	p.His785Gln	rs573125100	missense variant	-	NC_000001.11:g.33328937G>T	1000Genomes,ExAC,gnomAD
PHC2	Q8IXK0	p.His785Arg	rs1239742372	missense variant	-	NC_000001.11:g.33328938T>C	TOPMed
PHC2	Q8IXK0	p.Pro788Leu	rs373640921	missense variant	-	NC_000001.11:g.33328929G>A	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Ser789Thr	rs751380332	missense variant	-	NC_000001.11:g.33328926C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Ser789Gly	rs754774534	missense variant	-	NC_000001.11:g.33328927T>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Ser789Ile	rs751380332	missense variant	-	NC_000001.11:g.33328926C>A	ExAC,gnomAD
PHC2	Q8IXK0	p.Glu790Lys	rs1482082108	missense variant	-	NC_000001.11:g.33328924C>T	gnomAD
PHC2	Q8IXK0	p.Pro791Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33328920G>A	NCI-TCGA
PHC2	Q8IXK0	p.Trp794Arg	rs762536552	missense variant	-	NC_000001.11:g.33328912A>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Glu797Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33328903C>G	NCI-TCGA
PHC2	Q8IXK0	p.Glu797Gly	rs1281217767	missense variant	-	NC_000001.11:g.33328902T>C	TOPMed
PHC2	Q8IXK0	p.Val799Ile	rs1222676018	missense variant	-	NC_000001.11:g.33328897C>T	TOPMed
PHC2	Q8IXK0	p.Arg804Cys	rs371688704	missense variant	-	NC_000001.11:g.33328882G>A	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Arg804His	rs575502626	missense variant	-	NC_000001.11:g.33328881C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg804Gly	rs371688704	missense variant	-	NC_000001.11:g.33328882G>C	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Ser805Ala	rs776051776	missense variant	-	NC_000001.11:g.33328879A>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ser805Cys	rs1398926854	missense variant	-	NC_000001.11:g.33328878G>C	gnomAD
PHC2	Q8IXK0	p.Cys809Ser	rs1434979259	missense variant	-	NC_000001.11:g.33325016C>G	gnomAD
PHC2	Q8IXK0	p.Gln810Glu	rs1170609129	missense variant	-	NC_000001.11:g.33325014G>C	gnomAD
PHC2	Q8IXK0	p.Ile812Met	rs1159926732	missense variant	-	NC_000001.11:g.33325006T>C	TOPMed,gnomAD
PHC2	Q8IXK0	p.Ile812Thr	rs758166643	missense variant	-	NC_000001.11:g.33325007A>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Glu814Gly	rs756915317	missense variant	-	NC_000001.11:g.33325001T>C	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Glu814Gln	rs778530221	missense variant	-	NC_000001.11:g.33325002C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Glu814Asp	rs753538669	missense variant	-	NC_000001.11:g.33325000C>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg817Ser	rs1442084176	missense variant	-	NC_000001.11:g.33324993G>T	gnomAD
PHC2	Q8IXK0	p.Arg817His	rs763441902	missense variant	-	NC_000001.11:g.33324992C>T	ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Arg817Cys	rs1442084176	missense variant	-	NC_000001.11:g.33324993G>A	gnomAD
PHC2	Q8IXK0	p.Gln819His	rs1340498522	missense variant	-	NC_000001.11:g.33324985C>G	TOPMed,gnomAD
PHC2	Q8IXK0	p.Gln819Glu	rs1216698518	missense variant	-	NC_000001.11:g.33324987G>C	gnomAD
PHC2	Q8IXK0	p.Ile821Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33324979G>C	NCI-TCGA
PHC2	Q8IXK0	p.Ile821Thr	rs755677497	missense variant	-	NC_000001.11:g.33324980A>G	ExAC,gnomAD
PHC2	Q8IXK0	p.Asp822Glu	COSM1321143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33324976G>C	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Gly823Arg	COSM681071	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33324975C>G	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Asp832Tyr	COSM2154877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33324948C>A	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Leu834Pro	COSM908420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.33324941A>G	NCI-TCGA Cosmic
PHC2	Q8IXK0	p.Met835Ile	rs150889883	missense variant	-	NC_000001.11:g.33324937C>T	ESP
PHC2	Q8IXK0	p.Ala837Thr	rs763020224	missense variant	-	NC_000001.11:g.33324933C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Ala837Val	rs1130798	missense variant	-	NC_000001.11:g.33324932G>A	-
PHC2	Q8IXK0	p.Ile840Val	rs773515590	missense variant	-	NC_000001.11:g.33324924T>C	ExAC,gnomAD
PHC2	Q8IXK0	p.Ile840Met	rs1169929138	missense variant	-	NC_000001.11:g.33324922G>C	gnomAD
PHC2	Q8IXK0	p.Ala845Thr	rs761929335	missense variant	-	NC_000001.11:g.33324909C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Tyr849Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.33324896T>C	NCI-TCGA
PHC2	Q8IXK0	p.Tyr849Ter	rs11554674	stop gained	-	NC_000001.11:g.33324895G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Ala850Thr	rs1472472276	missense variant	-	NC_000001.11:g.33324894C>T	gnomAD
PHC2	Q8IXK0	p.Ala850Asp	rs144099793	missense variant	-	NC_000001.11:g.33324893G>T	ESP,ExAC,gnomAD
PHC2	Q8IXK0	p.Arg851His	rs745646687	missense variant	-	NC_000001.11:g.33324890C>T	ExAC,gnomAD
PHC2	Q8IXK0	p.Arg851Cys	rs1206876788	missense variant	-	NC_000001.11:g.33324891G>A	TOPMed,gnomAD
PHC2	Q8IXK0	p.Met854Arg	rs376200315	missense variant	-	NC_000001.11:g.33324881A>C	ESP,ExAC,TOPMed,gnomAD
PHC2	Q8IXK0	p.Asp857Val	rs1197083327	missense variant	-	NC_000001.11:g.33324872T>A	gnomAD
SP8	Q8IXZ3	p.Ala4Thr	rs768709451	missense variant	-	NC_000007.14:g.20785753C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala4Ser	COSM6177372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20785753C>A	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Asn7Ser	rs1282228766	missense variant	-	NC_000007.14:g.20785743T>C	TOPMed
SP8	Q8IXZ3	p.Asn7His	rs775657620	missense variant	-	NC_000007.14:g.20785744T>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Lys8Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20785741T>C	NCI-TCGA
SP8	Q8IXZ3	p.Gly10Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20785735C>A	NCI-TCGA
SP8	Q8IXZ3	p.Pro12Ser	rs1310065617	missense variant	-	NC_000007.14:g.20785729G>A	gnomAD
SP8	Q8IXZ3	p.Pro12His	rs769956379	missense variant	-	NC_000007.14:g.20785728G>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Pro14Arg	rs1410181465	missense variant	-	NC_000007.14:g.20785722G>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Pro16Ala	rs746109340	missense variant	-	NC_000007.14:g.20785717G>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser17Cys	rs180916416	missense variant	-	NC_000007.14:g.20785713G>C	1000Genomes,ExAC,gnomAD
SP8	Q8IXZ3	p.Ser18Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20785710G>A	NCI-TCGA
SP8	Q8IXZ3	p.Leu19Phe	rs748106706	missense variant	-	NC_000007.14:g.20785708G>A	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Asp21Val	rs1467811273	missense variant	-	NC_000007.14:g.20785701T>A	gnomAD
SP8	Q8IXZ3	p.Ser22Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20785698C>A	NCI-TCGA
SP8	Q8IXZ3	p.Ser23Pro	rs1376109957	missense variant	-	NC_000007.14:g.20785696A>G	gnomAD
SP8	Q8IXZ3	p.Ser23Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20785695G>A	NCI-TCGA
SP8	Q8IXZ3	p.Gly27Arg	rs779064913	missense variant	-	NC_000007.14:g.20785684C>G	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly27Ser	rs779064913	missense variant	-	NC_000007.14:g.20785684C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly29Val	rs1478981905	missense variant	-	NC_000007.14:g.20785677C>A	TOPMed
SP8	Q8IXZ3	p.His31Tyr	rs1437748280	missense variant	-	NC_000007.14:g.20785672G>A	gnomAD
SP8	Q8IXZ3	p.Pro32Ser	rs1423600689	missense variant	-	NC_000007.14:g.20785669G>A	TOPMed
SP8	Q8IXZ3	p.Trp33Cys	rs1304724326	missense variant	-	NC_000007.14:g.20785664C>G	TOPMed
SP8	Q8IXZ3	p.Trp33Gly	rs779730693	missense variant	-	NC_000007.14:g.20785666A>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Arg35Ser	rs1201638492	missense variant	-	NC_000007.14:g.20785660G>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Arg35His	rs755749208	missense variant	-	NC_000007.14:g.20785659C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Arg35Cys	rs1201638492	missense variant	-	NC_000007.14:g.20785660G>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser36Phe	rs767861886	missense variant	-	NC_000007.14:g.20785656G>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Ser37Ala	rs1330864260	missense variant	-	NC_000007.14:g.20785654A>C	gnomAD
SP8	Q8IXZ3	p.Ser37Leu	rs201512381	missense variant	-	NC_000007.14:g.20785653G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser37Leu	rs201512381	missense variant	-	NC_000007.14:g.20785653G>A	NCI-TCGA
SP8	Q8IXZ3	p.Ser40Phe	rs764625575	missense variant	-	NC_000007.14:g.20785644G>A	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala42Val	rs1444841020	missense variant	-	NC_000007.14:g.20785638G>A	gnomAD
SP8	Q8IXZ3	p.Ala42Thr	rs762997951	missense variant	-	NC_000007.14:g.20785639C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala42Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20785639C>A	NCI-TCGA
SP8	Q8IXZ3	p.Ser43Asn	rs1400376542	missense variant	-	NC_000007.14:g.20785635C>T	gnomAD
SP8	Q8IXZ3	p.Cys44Phe	rs1256088302	missense variant	-	NC_000007.14:g.20785632C>A	TOPMed
SP8	Q8IXZ3	p.Cys44Tyr	rs1256088302	missense variant	-	NC_000007.14:g.20785632C>T	TOPMed
SP8	Q8IXZ3	p.Val46Ala	rs1458110426	missense variant	-	NC_000007.14:g.20785626A>G	gnomAD
SP8	Q8IXZ3	p.Gly48Cys	rs779953529	missense variant	-	NC_000007.14:g.20785621C>A	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly48Val	rs759748482	missense variant	-	NC_000007.14:g.20785620C>A	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser49Pro	COSM5442197	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20785618A>G	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Ser50Gly	rs771899660	missense variant	-	NC_000007.14:g.20785615T>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser50Arg	rs771899660	missense variant	-	NC_000007.14:g.20785615T>G	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Leu51Ile	rs1488398432	missense variant	-	NC_000007.14:g.20785612G>T	TOPMed
SP8	Q8IXZ3	p.Leu51Pro	rs747938025	missense variant	-	NC_000007.14:g.20785611A>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Ser53Thr	rs768662124	missense variant	-	NC_000007.14:g.20785605C>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Ser53Asn	rs768662124	missense variant	-	NC_000007.14:g.20785605C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Val56Ala	rs139917829	missense variant	-	NC_000007.14:g.20785596A>G	ESP,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Val56Leu	rs779636561	missense variant	-	NC_000007.14:g.20785597C>A	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser57Thr	rs147160703	missense variant	-	NC_000007.14:g.20785594A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser57Pro	rs147160703	missense variant	-	NC_000007.14:g.20785594A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly58Arg	rs1285838244	missense variant	-	NC_000007.14:g.20785591C>T	gnomAD
SP8	Q8IXZ3	p.Gly58Glu	rs1247088266	missense variant	-	NC_000007.14:g.20785590C>T	gnomAD
SP8	Q8IXZ3	p.Arg61Gly	rs535889885	missense variant	-	NC_000007.14:g.20785582T>C	1000Genomes,ExAC,gnomAD
SP8	Q8IXZ3	p.Asn62Lys	rs1391072547	missense variant	-	NC_000007.14:g.20785577G>C	gnomAD
SP8	Q8IXZ3	p.Gly63Ser	rs765347288	missense variant	-	NC_000007.14:g.20785576C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly63Asp	rs1343278834	missense variant	-	NC_000007.14:g.20785575C>T	gnomAD
SP8	Q8IXZ3	p.Gly63Cys	rs765347288	missense variant	-	NC_000007.14:g.20785576C>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly64Ser	rs759604542	missense variant	-	NC_000007.14:g.20785573C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly64Asp	rs1465565852	missense variant	-	NC_000007.14:g.20785572C>T	TOPMed
SP8	Q8IXZ3	p.Ser65Leu	rs1165440896	missense variant	-	NC_000007.14:g.20785569G>A	gnomAD
SP8	Q8IXZ3	p.Ser65Ala	rs565746360	missense variant	-	NC_000007.14:g.20785570A>C	1000Genomes
SP8	Q8IXZ3	p.Ser66Ala	rs547500019	missense variant	-	NC_000007.14:g.20785567A>C	1000Genomes
SP8	Q8IXZ3	p.Ala68Val	rs1188634943	missense variant	-	NC_000007.14:g.20785560G>A	gnomAD
SP8	Q8IXZ3	p.Ala70Gly	rs538767530	missense variant	-	NC_000007.14:g.20785554G>C	1000Genomes
SP8	Q8IXZ3	p.Ala73Pro	rs1358632609	missense variant	-	NC_000007.14:g.20785546C>G	gnomAD
SP8	Q8IXZ3	p.Ala74Val	rs943994705	missense variant	-	NC_000007.14:g.20785542G>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala75Thr	rs1215372246	missense variant	-	NC_000007.14:g.20785540C>T	TOPMed
SP8	Q8IXZ3	p.Ala75Gly	rs775344089	missense variant	-	NC_000007.14:g.20785539G>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala75Val	rs775344089	missense variant	-	NC_000007.14:g.20785539G>A	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala76Pro	rs769341609	missense variant	-	NC_000007.14:g.20785537C>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala77Thr	rs1430469635	missense variant	-	NC_000007.14:g.20785534C>T	gnomAD
SP8	Q8IXZ3	p.Ala78Val	rs1325929442	missense variant	-	NC_000007.14:g.20785530G>A	gnomAD
SP8	Q8IXZ3	p.Ala79Thr	rs973541708	missense variant	-	NC_000007.14:g.20785528C>T	TOPMed
SP8	Q8IXZ3	p.Ala80Thr	rs1366866360	missense variant	-	NC_000007.14:g.20785525C>T	TOPMed
SP8	Q8IXZ3	p.Ala80Val	rs1403710740	missense variant	-	NC_000007.14:g.20785524G>A	gnomAD
SP8	Q8IXZ3	p.Leu82Pro	rs1168699273	missense variant	-	NC_000007.14:g.20785518A>G	gnomAD
SP8	Q8IXZ3	p.Val83Met	rs1212300326	missense variant	-	NC_000007.14:g.20785516C>T	TOPMed
SP8	Q8IXZ3	p.Asp85His	rs1431473322	missense variant	-	NC_000007.14:g.20785510C>G	TOPMed,gnomAD
SP8	Q8IXZ3	p.Phe87Leu	rs1032407745	missense variant	-	NC_000007.14:g.20785502G>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser88Gly	rs1478142542	missense variant	-	NC_000007.14:g.20785501T>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly90Ser	rs1349036557	missense variant	-	NC_000007.14:g.20785495C>T	TOPMed
SP8	Q8IXZ3	p.Gly91Cys	rs1196436682	missense variant	-	NC_000007.14:g.20785492C>A	gnomAD
SP8	Q8IXZ3	p.Ser92Leu	rs1333244439	missense variant	-	NC_000007.14:g.20785488G>A	TOPMed
SP8	Q8IXZ3	p.Ser95Cys	rs1369725281	missense variant	-	NC_000007.14:g.20785479G>C	gnomAD
SP8	Q8IXZ3	p.Ser103Gly	rs1205999891	missense variant	-	NC_000007.14:g.20785456T>C	gnomAD
SP8	Q8IXZ3	p.Ala105Ser	rs758822345	missense variant	-	NC_000007.14:g.20785450C>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala105Val	rs1328650989	missense variant	-	NC_000007.14:g.20785449G>A	TOPMed
SP8	Q8IXZ3	p.Ala106Thr	rs1271165295	missense variant	-	NC_000007.14:g.20785447C>T	gnomAD
SP8	Q8IXZ3	p.Ala107Val	rs1345974227	missense variant	-	NC_000007.14:g.20785443G>A	gnomAD
SP8	Q8IXZ3	p.Ala108Pro	rs1256068003	missense variant	-	NC_000007.14:g.20785441C>G	gnomAD
SP8	Q8IXZ3	p.Ala109Val	rs1232031564	missense variant	-	NC_000007.14:g.20785437G>A	TOPMed
SP8	Q8IXZ3	p.Ala111Pro	rs1403439208	missense variant	-	NC_000007.14:g.20785432C>G	gnomAD
SP8	Q8IXZ3	p.Ala112Thr	rs1040890177	missense variant	-	NC_000007.14:g.20785429C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala113Val	rs1352319773	missense variant	-	NC_000007.14:g.20785425G>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala114Thr	rs1274296998	missense variant	-	NC_000007.14:g.20785423C>T	gnomAD
SP8	Q8IXZ3	p.Ala115Thr	rs1414718744	missense variant	-	NC_000007.14:g.20785420C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala115Ser	rs1414718744	missense variant	-	NC_000007.14:g.20785420C>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala116Ser	rs1426799880	missense variant	-	NC_000007.14:g.20785417C>A	gnomAD
SP8	Q8IXZ3	p.Ala116Thr	rs1426799880	missense variant	-	NC_000007.14:g.20785417C>T	gnomAD
SP8	Q8IXZ3	p.Pro120Thr	rs550042701	missense variant	-	NC_000007.14:g.20785405G>T	1000Genomes
SP8	Q8IXZ3	p.Phe121Leu	rs779330461	missense variant	-	NC_000007.14:g.20785400G>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Asn123Thr	rs1411525615	missense variant	-	NC_000007.14:g.20785395T>G	TOPMed,gnomAD
SP8	Q8IXZ3	p.Asn123Lys	rs1482025848	missense variant	-	NC_000007.14:g.20785394G>T	gnomAD
SP8	Q8IXZ3	p.Tyr125His	rs755067887	missense variant	-	NC_000007.14:g.20785390A>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Val127Ala	rs1237170252	missense variant	-	NC_000007.14:g.20785383A>G	TOPMed
SP8	Q8IXZ3	p.Val127Leu	rs753816024	missense variant	-	NC_000007.14:g.20785384C>G	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Val127Ile	rs753816024	missense variant	-	NC_000007.14:g.20785384C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala130Ser	rs766508195	missense variant	-	NC_000007.14:g.20785375C>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala130Val	rs1280949481	missense variant	-	NC_000007.14:g.20785374G>A	gnomAD
SP8	Q8IXZ3	p.Gly132Arg	rs1195661346	missense variant	-	NC_000007.14:g.20785369C>T	TOPMed
SP8	Q8IXZ3	p.Gly132Glu	rs1323200392	missense variant	-	NC_000007.14:g.20785368C>T	gnomAD
SP8	Q8IXZ3	p.Val133Leu	rs760910011	missense variant	-	NC_000007.14:g.20785366C>G	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Val133Ile	rs760910011	missense variant	-	NC_000007.14:g.20785366C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Val133Phe	rs760910011	missense variant	-	NC_000007.14:g.20785366C>A	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser137Gly	rs750685504	missense variant	-	NC_000007.14:g.20785354T>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly138Ser	COSM5554609	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20785351C>T	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Gly140Asp	rs1341450014	missense variant	-	NC_000007.14:g.20785344C>T	TOPMed
SP8	Q8IXZ3	p.Gly141Asp	rs1334214157	missense variant	-	NC_000007.14:g.20785341C>T	gnomAD
SP8	Q8IXZ3	p.Gly141Arg	rs1360574211	missense variant	-	NC_000007.14:g.20785342C>G	TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly141Ser	rs1360574211	missense variant	-	NC_000007.14:g.20785342C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly141Cys	rs1360574211	missense variant	-	NC_000007.14:g.20785342C>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly142Trp	rs1389181991	missense variant	-	NC_000007.14:g.20785339C>A	gnomAD
SP8	Q8IXZ3	p.Gly145Cys	rs185796187	missense variant	-	NC_000007.14:g.20785330C>A	1000Genomes,TOPMed
SP8	Q8IXZ3	p.Gly145Ser	rs185796187	missense variant	-	NC_000007.14:g.20785330C>T	1000Genomes,TOPMed
SP8	Q8IXZ3	p.Gly145ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20785330_20785331insTGAACGAGTCGGACACCAGG	NCI-TCGA
SP8	Q8IXZ3	p.Ser149Pro	rs1407133909	missense variant	-	NC_000007.14:g.20785318A>G	gnomAD
SP8	Q8IXZ3	p.Ala150Ser	rs1473128264	missense variant	-	NC_000007.14:g.20785315C>A	gnomAD
SP8	Q8IXZ3	p.Ala150Gly	rs1239444422	missense variant	-	NC_000007.14:g.20785314G>C	gnomAD
SP8	Q8IXZ3	p.His151Asn	rs1202072446	missense variant	-	NC_000007.14:g.20785312G>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser152Leu	rs1184988084	missense variant	-	NC_000007.14:g.20785308G>A	gnomAD
SP8	Q8IXZ3	p.Ser152Pro	rs1461033833	missense variant	-	NC_000007.14:g.20785309A>G	gnomAD
SP8	Q8IXZ3	p.Gln153His	rs1210943564	missense variant	-	NC_000007.14:g.20785304C>G	gnomAD
SP8	Q8IXZ3	p.Gly155Val	rs1291750583	missense variant	-	NC_000007.14:g.20785299C>A	TOPMed
SP8	Q8IXZ3	p.His157Pro	rs762907472	missense variant	-	NC_000007.14:g.20785293T>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Pro159Leu	rs1380638343	missense variant	-	NC_000007.14:g.20785287G>A	gnomAD
SP8	Q8IXZ3	p.Ile162Phe	rs759538816	missense variant	-	NC_000007.14:g.20785279T>A	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ile162Leu	rs759538816	missense variant	-	NC_000007.14:g.20785279T>G	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ile162Thr	rs775938495	missense variant	-	NC_000007.14:g.20785278A>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Val165Met	rs1451307323	missense variant	-	NC_000007.14:g.20785270C>T	gnomAD
SP8	Q8IXZ3	p.Val165Ala	rs1344538960	missense variant	-	NC_000007.14:g.20785269A>G	gnomAD
SP8	Q8IXZ3	p.Thr167Asn	rs746653622	missense variant	-	NC_000007.14:g.20785263G>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Val169Gly	rs772398808	missense variant	-	NC_000007.14:g.20785257A>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly171Arg	rs748563164	missense variant	-	NC_000007.14:g.20785252C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly171Arg	rs748563164	missense variant	-	NC_000007.14:g.20785252C>T	NCI-TCGA,NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Gly171Glu	rs200187315	missense variant	-	NC_000007.14:g.20785251C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly171Ala	rs200187315	missense variant	-	NC_000007.14:g.20785251C>G	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Leu172Pro	rs779936279	missense variant	-	NC_000007.14:g.20785248A>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Gln173Pro	rs750667187	missense variant	-	NC_000007.14:g.20785245T>G	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly174Asp	rs767890193	missense variant	-	NC_000007.14:g.20785242C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Ile175ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20785239A>-	NCI-TCGA
SP8	Q8IXZ3	p.Arg178Gln	rs377621423	missense variant	-	NC_000007.14:g.20785230C>T	ESP,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Val179Gly	rs765110354	missense variant	-	NC_000007.14:g.20785227A>C	ExAC,gnomAD
SP8	Q8IXZ3	p.His183Pro	rs1180170092	missense variant	-	NC_000007.14:g.20785215T>G	gnomAD
SP8	Q8IXZ3	p.Tyr185Cys	rs1449152853	missense variant	-	NC_000007.14:g.20785209T>C	TOPMed
SP8	Q8IXZ3	p.Glu186Asp	rs1049531704	missense variant	-	NC_000007.14:g.20785205C>A	TOPMed
SP8	Q8IXZ3	p.Ser187Leu	rs1438568832	missense variant	-	NC_000007.14:g.20785203G>A	gnomAD
SP8	Q8IXZ3	p.Trp188Cys	rs1335463860	missense variant	-	NC_000007.14:g.20785199C>G	TOPMed
SP8	Q8IXZ3	p.Pro191Ser	rs1363611131	missense variant	-	NC_000007.14:g.20785192G>A	gnomAD
SP8	Q8IXZ3	p.Pro191Leu	rs1161769057	missense variant	-	NC_000007.14:g.20785191G>A	gnomAD
SP8	Q8IXZ3	p.Ser192Leu	rs1391027524	missense variant	-	NC_000007.14:g.20785188G>A	NCI-TCGA
SP8	Q8IXZ3	p.Ser192Leu	rs1391027524	missense variant	-	NC_000007.14:g.20785188G>A	gnomAD
SP8	Q8IXZ3	p.Pro194Leu	rs1261557320	missense variant	-	NC_000007.14:g.20785182G>A	gnomAD
SP8	Q8IXZ3	p.Leu196Val	rs771667835	missense variant	-	NC_000007.14:g.20785177G>C	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly197Ser	rs1267324942	missense variant	-	NC_000007.14:g.20785174C>T	gnomAD
SP8	Q8IXZ3	p.Gly200Ala	rs145737768	missense variant	-	NC_000007.14:g.20785164C>G	1000Genomes
SP8	Q8IXZ3	p.Glu201Lys	COSM3880073	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20785162C>T	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Gly203Asp	rs1356742106	missense variant	-	NC_000007.14:g.20785155C>T	TOPMed
SP8	Q8IXZ3	p.Ser204Leu	rs769073985	missense variant	-	NC_000007.14:g.20785152G>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala205Thr	rs749742038	missense variant	-	NC_000007.14:g.20785150C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala207Val	rs1271253703	missense variant	-	NC_000007.14:g.20785143G>A	TOPMed
SP8	Q8IXZ3	p.Trp210Leu	rs371130757	missense variant	-	NC_000007.14:g.20785134C>A	ESP,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Trp211Ter	rs1404429893	stop gained	-	NC_000007.14:g.20785130C>T	gnomAD
SP8	Q8IXZ3	p.Val213Met	rs781444087	missense variant	-	NC_000007.14:g.20785126C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Val213Leu	rs781444087	missense variant	-	NC_000007.14:g.20785126C>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Val220Leu	rs1481601230	missense variant	-	NC_000007.14:g.20785105C>G	gnomAD
SP8	Q8IXZ3	p.Asn222Ser	rs950078438	missense variant	-	NC_000007.14:g.20785098T>C	TOPMed
SP8	Q8IXZ3	p.Asn222Lys	rs201194192	missense variant	-	NC_000007.14:g.20785097G>C	1000Genomes,ExAC,gnomAD
SP8	Q8IXZ3	p.Pro223Ser	rs1199402893	missense variant	-	NC_000007.14:g.20785096G>A	gnomAD
SP8	Q8IXZ3	p.Ser225Gly	rs1483664496	missense variant	-	NC_000007.14:g.20785090T>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser225Cys	rs1483664496	missense variant	-	NC_000007.14:g.20785090T>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala226Glu	rs545093306	missense variant	-	NC_000007.14:g.20785086G>T	1000Genomes,ExAC,gnomAD
SP8	Q8IXZ3	p.Ala227Thr	rs1480117950	missense variant	-	NC_000007.14:g.20785084C>T	gnomAD
SP8	Q8IXZ3	p.Ala227Val	rs1256178490	missense variant	-	NC_000007.14:g.20785083G>A	gnomAD
SP8	Q8IXZ3	p.Leu229Met	rs1321084003	missense variant	-	NC_000007.14:g.20785078G>T	gnomAD
SP8	Q8IXZ3	p.Gly231Ser	rs774107328	missense variant	-	NC_000007.14:g.20785072C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Pro235Leu	rs776116903	missense variant	-	NC_000007.14:g.20785059G>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Pro235Ser	rs1389890860	missense variant	-	NC_000007.14:g.20785060G>A	TOPMed
SP8	Q8IXZ3	p.Ala236Val	rs1336352015	missense variant	-	NC_000007.14:g.20785056G>A	TOPMed
SP8	Q8IXZ3	p.Ala237Val	rs1303583946	missense variant	-	NC_000007.14:g.20785053G>A	gnomAD
SP8	Q8IXZ3	p.Ala237Ser	rs770373661	missense variant	-	NC_000007.14:g.20785054C>A	ExAC
SP8	Q8IXZ3	p.Leu240SerPheSerTerUnkUnk	COSM3025196	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20785046C>-	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Ser243Leu	rs757415628	missense variant	-	NC_000007.14:g.20785035G>A	ExAC,gnomAD
SP8	Q8IXZ3	p.His245Gln	rs1056004787	missense variant	-	NC_000007.14:g.20785028G>C	TOPMed
SP8	Q8IXZ3	p.Pro247Arg	rs1319993146	missense variant	-	NC_000007.14:g.20785023G>C	TOPMed
SP8	Q8IXZ3	p.Leu248Ile	rs747192069	missense variant	-	NC_000007.14:g.20785021G>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Leu248Pro	rs1256442223	missense variant	-	NC_000007.14:g.20785020A>G	gnomAD
SP8	Q8IXZ3	p.Tyr251His	rs754708367	missense variant	-	NC_000007.14:g.20785012A>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Tyr251Cys	rs1336833262	missense variant	-	NC_000007.14:g.20785011T>C	TOPMed
SP8	Q8IXZ3	p.Asn252His	rs1209099800	missense variant	-	NC_000007.14:g.20785009T>G	gnomAD
SP8	Q8IXZ3	p.Asn252Ser	rs1352779230	missense variant	-	NC_000007.14:g.20785008T>C	gnomAD
SP8	Q8IXZ3	p.Ser253Ter	rs1258850696	stop gained	-	NC_000007.14:g.20785005G>T	gnomAD
SP8	Q8IXZ3	p.Tyr255Asp	rs755983981	missense variant	-	NC_000007.14:g.20785000A>C	ExAC
SP8	Q8IXZ3	p.Tyr255Ser	rs1256480233	missense variant	-	NC_000007.14:g.20784999T>G	TOPMed
SP8	Q8IXZ3	p.Gly257Cys	rs1315816125	missense variant	-	NC_000007.14:g.20784994C>A	gnomAD
SP8	Q8IXZ3	p.Ser261Ter	rs113150333	stop gained	-	NC_000007.14:g.20784981G>T	gnomAD
SP8	Q8IXZ3	p.Ser261Pro	rs1380826206	missense variant	-	NC_000007.14:g.20784982A>G	gnomAD
SP8	Q8IXZ3	p.Ser264Gly	rs755696391	missense variant	-	NC_000007.14:g.20784973T>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser264Ile	rs1387779139	missense variant	-	NC_000007.14:g.20784972C>A	gnomAD
SP8	Q8IXZ3	p.Gly266Ser	rs1479243350	missense variant	-	NC_000007.14:g.20784967C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala267Pro	rs542629548	missense variant	-	NC_000007.14:g.20784964C>G	TOPMed
SP8	Q8IXZ3	p.His270Gln	rs773842075	missense variant	-	NC_000007.14:g.20784953G>C	ExAC,gnomAD
SP8	Q8IXZ3	p.His270Tyr	COSM3880069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784955G>A	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Leu271Pro	rs1442452572	missense variant	-	NC_000007.14:g.20784951A>G	gnomAD
SP8	Q8IXZ3	p.Pro274Ser	rs1460576170	missense variant	-	NC_000007.14:g.20784943G>A	TOPMed
SP8	Q8IXZ3	p.Ala275Ser	rs866954289	missense variant	-	NC_000007.14:g.20784940C>A	gnomAD
SP8	Q8IXZ3	p.Gly276Arg	rs1448449819	missense variant	-	NC_000007.14:g.20784937C>T	gnomAD
SP8	Q8IXZ3	p.Gly276Arg	rs1448449819	missense variant	-	NC_000007.14:g.20784937C>G	gnomAD
SP8	Q8IXZ3	p.His278Asp	rs1259591593	missense variant	-	NC_000007.14:g.20784931G>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.His278Tyr	rs1259591593	missense variant	-	NC_000007.14:g.20784931G>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.His278Arg	rs763855057	missense variant	-	NC_000007.14:g.20784930T>C	ExAC,gnomAD
SP8	Q8IXZ3	p.Met280Ile	rs1292657706	missense variant	-	NC_000007.14:g.20784923C>T	gnomAD
SP8	Q8IXZ3	p.Met280Leu	rs762534979	missense variant	-	NC_000007.14:g.20784925T>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Met280Val	rs762534979	missense variant	-	NC_000007.14:g.20784925T>C	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly282Arg	rs749989235	missense variant	-	NC_000007.14:g.20784919C>G	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Lys284Asn	rs1357589911	missense variant	-	NC_000007.14:g.20784911C>G	gnomAD
SP8	Q8IXZ3	p.Val286Leu	rs1431946904	missense variant	-	NC_000007.14:g.20784907C>A	gnomAD
SP8	Q8IXZ3	p.Gly289Asp	rs1392059319	missense variant	-	NC_000007.14:g.20784897C>T	gnomAD
SP8	Q8IXZ3	p.Gly289Ser	rs1382200133	missense variant	-	NC_000007.14:g.20784898C>T	gnomAD
SP8	Q8IXZ3	p.Pro292Ala	rs760107060	missense variant	-	NC_000007.14:g.20784889G>C	ExAC,gnomAD
SP8	Q8IXZ3	p.Pro292Thr	rs760107060	missense variant	-	NC_000007.14:g.20784889G>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Pro292Arg	rs777345114	missense variant	-	NC_000007.14:g.20784888G>C	ExAC,gnomAD
SP8	Q8IXZ3	p.Pro292Ser	rs760107060	missense variant	-	NC_000007.14:g.20784889G>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Asp293Ala	rs770885686	missense variant	-	NC_000007.14:g.20784885T>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Pro296Arg	rs1467281824	missense variant	-	NC_000007.14:g.20784876G>C	gnomAD
SP8	Q8IXZ3	p.Pro298Leu	rs1192173318	missense variant	-	NC_000007.14:g.20784870G>A	gnomAD
SP8	Q8IXZ3	p.Leu299Val	rs954394962	missense variant	-	NC_000007.14:g.20784868G>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly301Ser	rs555800684	missense variant	-	NC_000007.14:g.20784862C>T	1000Genomes,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly301Ser	rs555800684	missense variant	-	NC_000007.14:g.20784862C>T	NCI-TCGA
SP8	Q8IXZ3	p.Ala302Gly	rs779771095	missense variant	-	NC_000007.14:g.20784858G>C	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly303Ala	rs1209490093	missense variant	-	NC_000007.14:g.20784855C>G	gnomAD
SP8	Q8IXZ3	p.Gly304Asp	rs1294707479	missense variant	-	NC_000007.14:g.20784852C>T	TOPMed
SP8	Q8IXZ3	p.Gly304Ser	rs1341701143	missense variant	-	NC_000007.14:g.20784853C>T	gnomAD
SP8	Q8IXZ3	p.Gly304Val	rs1294707479	missense variant	-	NC_000007.14:g.20784852C>A	TOPMed
SP8	Q8IXZ3	p.Ser305Phe	rs1227093071	missense variant	-	NC_000007.14:g.20784849G>A	gnomAD
SP8	Q8IXZ3	p.Ser308Arg	rs1234833470	missense variant	-	NC_000007.14:g.20784841T>G	TOPMed
SP8	Q8IXZ3	p.Ala309Val	rs1402575196	missense variant	-	NC_000007.14:g.20784837G>A	gnomAD
SP8	Q8IXZ3	p.Ala309Thr	rs755957403	missense variant	-	NC_000007.14:g.20784838C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Pro311Thr	rs1364478606	missense variant	-	NC_000007.14:g.20784832G>T	gnomAD
SP8	Q8IXZ3	p.Pro311Leu	rs1328910673	missense variant	-	NC_000007.14:g.20784831G>A	gnomAD
SP8	Q8IXZ3	p.Ala313Val	rs1167135932	missense variant	-	NC_000007.14:g.20784825G>A	gnomAD
SP8	Q8IXZ3	p.Ala313Thr	rs750352032	missense variant	-	NC_000007.14:g.20784826C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly317Ala	rs1431368530	missense variant	-	NC_000007.14:g.20784813C>G	gnomAD
SP8	Q8IXZ3	p.Gly317Asp	rs1431368530	missense variant	-	NC_000007.14:g.20784813C>T	gnomAD
SP8	Q8IXZ3	p.Gly317Ser	rs966796330	missense variant	-	NC_000007.14:g.20784814C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly317AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.20784813C>-	NCI-TCGA
SP8	Q8IXZ3	p.Ser318Cys	rs1019210525	missense variant	-	NC_000007.14:g.20784810G>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser318Phe	rs1019210525	missense variant	-	NC_000007.14:g.20784810G>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Pro319Ala	rs756696662	missense variant	-	NC_000007.14:g.20784808G>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Arg320His	rs1378217851	missense variant	-	NC_000007.14:g.20784804C>T	TOPMed
SP8	Q8IXZ3	p.Arg320Cys	rs1205287201	missense variant	-	NC_000007.14:g.20784805G>A	gnomAD
SP8	Q8IXZ3	p.Ala323Ser	rs751028730	missense variant	-	NC_000007.14:g.20784796C>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Arg324His	rs1324645918	missense variant	-	NC_000007.14:g.20784792C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Arg325Leu	rs1346875868	missense variant	-	NC_000007.14:g.20784789C>A	gnomAD
SP8	Q8IXZ3	p.Arg325Gly	rs762599484	missense variant	-	NC_000007.14:g.20784790G>C	ExAC,gnomAD
SP8	Q8IXZ3	p.Arg325Cys	rs762599484	missense variant	-	NC_000007.14:g.20784790G>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Tyr326Cys	rs1345407182	missense variant	-	NC_000007.14:g.20784786T>C	gnomAD
SP8	Q8IXZ3	p.Ser327Cys	rs1443691807	missense variant	-	NC_000007.14:g.20784783G>C	gnomAD
SP8	Q8IXZ3	p.Ala330Thr	rs1362242086	missense variant	-	NC_000007.14:g.20784775C>T	TOPMed
SP8	Q8IXZ3	p.Cys337Tyr	rs1382782294	missense variant	-	NC_000007.14:g.20784753C>T	TOPMed
SP8	Q8IXZ3	p.Gln338Arg	rs1020817241	missense variant	-	NC_000007.14:g.20784750T>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala340Ser	rs1177888399	missense variant	-	NC_000007.14:g.20784745C>A	gnomAD
SP8	Q8IXZ3	p.Ala340Val	rs1471162912	missense variant	-	NC_000007.14:g.20784744G>A	gnomAD
SP8	Q8IXZ3	p.Ala340Glu	rs1471162912	missense variant	-	NC_000007.14:g.20784744G>T	gnomAD
SP8	Q8IXZ3	p.Arg342Gly	rs1301373128	missense variant	-	NC_000007.14:g.20784739G>C	TOPMed
SP8	Q8IXZ3	p.Arg342Trp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20784739G>A	NCI-TCGA
SP8	Q8IXZ3	p.Leu343Met	rs777257096	missense variant	-	NC_000007.14:g.20784736G>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala346Ser	rs773279084	missense variant	-	NC_000007.14:g.20784727C>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala346Thr	rs773279084	missense variant	-	NC_000007.14:g.20784727C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala346Val	rs772062700	missense variant	-	NC_000007.14:g.20784726G>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly347Arg	rs748352440	missense variant	-	NC_000007.14:g.20784724C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Ala348Ser	rs1323488068	missense variant	-	NC_000007.14:g.20784721C>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ala348Thr	rs1323488068	missense variant	-	NC_000007.14:g.20784721C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Lys353Arg	rs1224976079	missense variant	-	NC_000007.14:g.20784705T>C	gnomAD
SP8	Q8IXZ3	p.Gly354Asp	rs1370610401	missense variant	-	NC_000007.14:g.20784702C>T	gnomAD
SP8	Q8IXZ3	p.Gly354Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20784702C>A	NCI-TCGA
SP8	Q8IXZ3	p.His359Arg	rs1353937566	missense variant	-	NC_000007.14:g.20784687T>C	TOPMed
SP8	Q8IXZ3	p.Cys363Tyr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20784675C>T	NCI-TCGA
SP8	Q8IXZ3	p.Tyr367Cys	COSM3637253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784663T>C	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Gly368Arg	rs745709816	missense variant	-	NC_000007.14:g.20784661C>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly368Ala	rs780870173	missense variant	-	NC_000007.14:g.20784660C>G	ExAC,gnomAD
SP8	Q8IXZ3	p.Ser371Leu	COSM3025186	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784651G>A	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Ala375Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20784639G>A	NCI-TCGA
SP8	Q8IXZ3	p.Thr381Met	rs1468053455	missense variant	-	NC_000007.14:g.20784621G>A	TOPMed
SP8	Q8IXZ3	p.Trp390Ter	rs1445491226	stop gained	-	NC_000007.14:g.20784593C>T	gnomAD
SP8	Q8IXZ3	p.Leu391Val	rs752368105	missense variant	-	NC_000007.14:g.20784592G>C	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Phe392Leu	rs1344080751	missense variant	-	NC_000007.14:g.20784589A>G	gnomAD
SP8	Q8IXZ3	p.Arg396Cys	COSM3880065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784577G>A	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Thr398Met	rs1419891473	missense variant	-	NC_000007.14:g.20784570G>A	TOPMed
SP8	Q8IXZ3	p.Thr398Ala	rs1218641859	missense variant	-	NC_000007.14:g.20784571T>C	gnomAD
SP8	Q8IXZ3	p.Arg399His	rs1315619724	missense variant	-	NC_000007.14:g.20784567C>T	gnomAD
SP8	Q8IXZ3	p.Arg399His	rs1315619724	missense variant	-	NC_000007.14:g.20784567C>T	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Asp401Asn	COSM3880063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20784562C>T	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Gly412Val	rs1297691593	missense variant	-	NC_000007.14:g.20784528C>A	gnomAD
SP8	Q8IXZ3	p.Ala417Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20784514C>T	NCI-TCGA
SP8	Q8IXZ3	p.Pro419Leu	rs375071862	missense variant	-	NC_000007.14:g.20784507G>A	ESP,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Val420Ile	rs538728047	missense variant	-	NC_000007.14:g.20784505C>T	1000Genomes,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Val420Phe	rs538728047	missense variant	-	NC_000007.14:g.20784505C>A	1000Genomes,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Asn422Lys	rs1015946690	missense variant	-	NC_000007.14:g.20784497G>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Lys423Asn	rs776419601	missense variant	-	NC_000007.14:g.20784494C>G	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Arg427His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20784483C>T	NCI-TCGA
SP8	Q8IXZ3	p.His434Asn	rs1288944503	missense variant	-	NC_000007.14:g.20784463G>T	gnomAD
SP8	Q8IXZ3	p.Val435Met	rs1244877775	missense variant	-	NC_000007.14:g.20784460C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly440Ser	rs1248184003	missense variant	-	NC_000007.14:g.20784445C>T	TOPMed
SP8	Q8IXZ3	p.Gly440Val	rs770644359	missense variant	-	NC_000007.14:g.20784444C>A	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly441Val	rs1406678092	missense variant	-	NC_000007.14:g.20784441C>A	gnomAD
SP8	Q8IXZ3	p.Gly442Ser	rs1165342660	missense variant	-	NC_000007.14:g.20784439C>T	TOPMed
SP8	Q8IXZ3	p.Gly443GlyAlaTerLeuTerLysAlaLeuProLysIleProSerUnk	rs1240369968	stop gained	-	NC_000007.14:g.20784434_20784435insTAGAAGGAATTTTAGGTAAGGCTTTTTAAAGCTAAGCT	gnomAD
SP8	Q8IXZ3	p.Gly443Cys	rs886470749	missense variant	-	NC_000007.14:g.20784436C>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly444GlyThrGluLeuGlnGlnSerGlnPheTerLysSerLeuCysUnk	rs1213563858	stop gained	-	NC_000007.14:g.20784432_20784433insACAGAGGCTCTTTTAAAATTGGCTTTGCTGGAGCTCTGTTC	gnomAD
SP8	Q8IXZ3	p.Gly446Asp	rs1046410853	missense variant	-	NC_000007.14:g.20784426C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly446Ser	rs1301333504	missense variant	-	NC_000007.14:g.20784427C>T	gnomAD
SP8	Q8IXZ3	p.Ala448Pro	rs1355287519	missense variant	-	NC_000007.14:g.20784421C>G	gnomAD
SP8	Q8IXZ3	p.Ala448Val	rs371931411	missense variant	-	NC_000007.14:g.20784420G>A	ESP,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly451Asp	rs974417925	missense variant	-	NC_000007.14:g.20784411C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Ser452Arg	rs1484358713	missense variant	-	NC_000007.14:g.20784409T>G	TOPMed
SP8	Q8IXZ3	p.Gly453Ser	rs1200853231	missense variant	-	NC_000007.14:g.20784406C>T	gnomAD
SP8	Q8IXZ3	p.Gly454Ser	rs1188466733	missense variant	-	NC_000007.14:g.20784403C>T	TOPMed
SP8	Q8IXZ3	p.Gly454Ser	rs1188466733	missense variant	-	NC_000007.14:g.20784403C>T	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Lys455Gln	rs1299440721	missense variant	-	NC_000007.14:g.20784400T>G	gnomAD
SP8	Q8IXZ3	p.Lys455Asn	rs1208705788	missense variant	-	NC_000007.14:g.20784398C>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Lys455Arg	rs945618450	missense variant	-	NC_000007.14:g.20784399T>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Lys456Asn	rs1480771534	missense variant	-	NC_000007.14:g.20784395C>A	gnomAD
SP8	Q8IXZ3	p.Thr460Ala	rs1195704252	missense variant	-	NC_000007.14:g.20784385T>C	TOPMed
SP8	Q8IXZ3	p.Asp461Glu	rs571375213	missense variant	-	NC_000007.14:g.20784380G>C	1000Genomes
SP8	Q8IXZ3	p.Ser465Thr	rs1408914623	missense variant	-	NC_000007.14:g.20784369C>G	TOPMed
SP8	Q8IXZ3	p.Pro470Leu	rs1360603973	missense variant	-	NC_000007.14:g.20784354G>A	TOPMed
SP8	Q8IXZ3	p.Pro471Leu	rs1343538501	missense variant	-	NC_000007.14:g.20784351G>A	gnomAD
SP8	Q8IXZ3	p.Pro471Ser	rs1434933594	missense variant	-	NC_000007.14:g.20784352G>A	TOPMed
SP8	Q8IXZ3	p.Cys472Tyr	rs1355142852	missense variant	-	NC_000007.14:g.20784348C>T	TOPMed
SP8	Q8IXZ3	p.Ser474Ala	rs1281484074	missense variant	-	NC_000007.14:g.20784343A>C	gnomAD
SP8	Q8IXZ3	p.Ser474Pro	rs1281484074	missense variant	-	NC_000007.14:g.20784343A>G	gnomAD
SP8	Q8IXZ3	p.Leu477Val	rs1386245383	missense variant	-	NC_000007.14:g.20784334G>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Leu478Met	rs1300060596	missense variant	-	NC_000007.14:g.20784331G>T	gnomAD
SP8	Q8IXZ3	p.Gln479His	rs1400112706	missense variant	-	NC_000007.14:g.20784326C>A	gnomAD
SP8	Q8IXZ3	p.Gln479Ter	rs1293509500	stop gained	-	NC_000007.14:g.20784328G>A	TOPMed
SP8	Q8IXZ3	p.Gln479Pro	rs1460646355	missense variant	-	NC_000007.14:g.20784327T>G	TOPMed,gnomAD
SP8	Q8IXZ3	p.Pro480Leu	rs1471272033	missense variant	-	NC_000007.14:g.20784324G>A	gnomAD
SP8	Q8IXZ3	p.Pro480Ser	rs925215102	missense variant	-	NC_000007.14:g.20784325G>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Pro481Ser	rs977938933	missense variant	-	NC_000007.14:g.20784322G>A	TOPMed,gnomAD
SP8	Q8IXZ3	p.Pro481His	rs1197554380	missense variant	-	NC_000007.14:g.20784321G>T	gnomAD
SP8	Q8IXZ3	p.Glu482SerPheSerTerUnk	COSM4613719	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20784320G>-	NCI-TCGA Cosmic
SP8	Q8IXZ3	p.Pro483Thr	rs1020320910	missense variant	-	NC_000007.14:g.20784316G>T	TOPMed
SP8	Q8IXZ3	p.Pro483Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.20784316G>C	NCI-TCGA
SP8	Q8IXZ3	p.Gly484Arg	rs754614485	missense variant	-	NC_000007.14:g.20784313C>T	ExAC,gnomAD
SP8	Q8IXZ3	p.Gly484Ala	rs753449952	missense variant	-	NC_000007.14:g.20784312C>G	ExAC
SP8	Q8IXZ3	p.His485Gln	rs960120291	missense variant	-	NC_000007.14:g.20784308G>T	gnomAD
SP8	Q8IXZ3	p.His485Asp	rs1014251491	missense variant	-	NC_000007.14:g.20784310G>C	TOPMed,gnomAD
SP8	Q8IXZ3	p.Arg486Cys	rs368503334	missense variant	-	NC_000007.14:g.20784307G>A	ESP,ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Arg486His	rs756498634	missense variant	-	NC_000007.14:g.20784306C>T	ExAC,TOPMed,gnomAD
SP8	Q8IXZ3	p.Gly488Ser	rs1255274373	missense variant	-	NC_000007.14:g.20784301C>T	TOPMed,gnomAD
SP8	Q8IXZ3	p.Leu489Pro	rs537668857	missense variant	-	NC_000007.14:g.20784297A>G	1000Genomes,ExAC,gnomAD
TEX11	Q8IYF3	p.Ser3Leu	rs1344192441	missense variant	-	NC_000023.11:g.70897539G>A	TOPMed
TEX11	Q8IYF3	p.His5Tyr	rs1202826814	missense variant	-	NC_000023.11:g.70897534G>A	TOPMed
TEX11	Q8IYF3	p.Cys6Ter	rs186262417	stop gained	-	NC_000023.11:g.70897529G>T	1000Genomes,TOPMed,gnomAD
TEX11	Q8IYF3	p.Cys6Ser	rs1250506630	missense variant	-	NC_000023.11:g.70897531A>T	TOPMed
TEX11	Q8IYF3	p.Asn7Ser	rs1037576205	missense variant	-	NC_000023.11:g.70897527T>C	TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg9Cys	rs1320559199	missense variant	-	NC_000023.11:g.70897522G>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Cys12Arg	rs1005238755	missense variant	-	NC_000023.11:g.70897513A>G	TOPMed
TEX11	Q8IYF3	p.Asp15Asn	rs1168374113	missense variant	-	NC_000023.11:g.70897504C>T	TOPMed
TEX11	Q8IYF3	p.Ser16Pro	rs1350790590	missense variant	-	NC_000023.11:g.70897501A>G	TOPMed
TEX11	Q8IYF3	p.Thr27Ala	rs747440106	missense variant	-	NC_000023.11:g.70897468T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu33Met	NCI-TCGA novel	missense variant	-	chrX:g.70880095G>T	NCI-TCGA
TEX11	Q8IYF3	p.Val34Leu	rs141951098	missense variant	-	NC_000023.11:g.70880092C>G	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val34Ala	rs1234114625	missense variant	-	NC_000023.11:g.70880091A>G	gnomAD
TEX11	Q8IYF3	p.Thr35Arg	rs1334521076	missense variant	-	NC_000023.11:g.70880088G>C	gnomAD
TEX11	Q8IYF3	p.Pro40Ser	rs1291671125	missense variant	-	NC_000023.11:g.70880074G>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile42Leu	rs1179943501	missense variant	-	NC_000023.11:g.70880068T>A	TOPMed
TEX11	Q8IYF3	p.Ala45Thr	rs904176751	missense variant	-	NC_000023.11:g.70880059C>T	TOPMed
TEX11	Q8IYF3	p.Ala45Val	rs1470073033	missense variant	-	NC_000023.11:g.70880058G>A	TOPMed
TEX11	Q8IYF3	p.Arg48Thr	rs1412987331	missense variant	-	NC_000023.11:g.70880049C>G	TOPMed
TEX11	Q8IYF3	p.Ser51Asn	rs1380500294	missense variant	-	NC_000023.11:g.70880040C>T	gnomAD
TEX11	Q8IYF3	p.Asp52Asn	rs1326402590	missense variant	-	NC_000023.11:g.70880038C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp52Asn	NCI-TCGA novel	missense variant	-	chrX:g.70880038C>T	NCI-TCGA
TEX11	Q8IYF3	p.Ile56Ser	rs767439893	missense variant	-	NC_000023.11:g.70880025A>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala62Thr	rs996784363	missense variant	-	NC_000023.11:g.70880008C>T	TOPMed
TEX11	Q8IYF3	p.Glu63Ter	COSM1315653	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70880005C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ile67Ser	rs751261544	missense variant	-	NC_000023.11:g.70879992A>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile69Val	rs756069493	missense variant	-	NC_000023.11:g.70873307T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Glu71Lys	rs1392057829	missense variant	-	NC_000023.11:g.70873301C>T	gnomAD
TEX11	Q8IYF3	p.Glu71Lys	COSM3563034	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70873301C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Met72Ile	rs1224644533	missense variant	-	NC_000023.11:g.70873296C>T	TOPMed
TEX11	Q8IYF3	p.Trp79Arg	rs372882973	missense variant	-	NC_000023.11:g.70873277A>G	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Gly84Arg	NCI-TCGA novel	missense variant	-	chrX:g.70873262C>T	NCI-TCGA
TEX11	Q8IYF3	p.Gly85Arg	NCI-TCGA novel	missense variant	-	chrX:g.70873259C>T	NCI-TCGA
TEX11	Q8IYF3	p.Asn90His	COSM277651	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70873244T>G	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Glu91Lys	rs763873466	missense variant	-	NC_000023.11:g.70873241C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu92Lys	rs762516688	missense variant	-	NC_000023.11:g.70873238C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg96Ile	NCI-TCGA novel	missense variant	-	chrX:g.70873225C>A	NCI-TCGA
TEX11	Q8IYF3	p.His98Asn	rs756997139	missense variant	-	NC_000023.11:g.70860934G>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.His98Arg	rs746751241	missense variant	-	NC_000023.11:g.70860933T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala110Gly	rs1257803300	missense variant	-	NC_000023.11:g.70860897G>C	TOPMed
TEX11	Q8IYF3	p.Ala110Asp	COSM6119215	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70860897G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ser111Ter	NCI-TCGA novel	stop gained	-	chrX:g.70860894G>C	NCI-TCGA
TEX11	Q8IYF3	p.Ser111Leu	COSM3914190	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70860894G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ala113Ser	rs1423488984	missense variant	-	NC_000023.11:g.70860889C>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala113Asp	NCI-TCGA novel	missense variant	-	chrX:g.70860888G>T	NCI-TCGA
TEX11	Q8IYF3	p.Ser114Leu	COSM1315652	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70860885G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ser117Cys	NCI-TCGA novel	missense variant	-	chrX:g.70860877T>A	NCI-TCGA
TEX11	Q8IYF3	p.Ile118Ser	rs752390103	missense variant	-	NC_000023.11:g.70860873A>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Gln119Glu	rs764706779	missense variant	-	NC_000023.11:g.70860871G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg120Ter	COSM1228992	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70860868G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Arg120Ter	rs1486675411	stop gained	-	NC_000023.11:g.70860868G>A	gnomAD
TEX11	Q8IYF3	p.Ile122Val	rs1281185459	missense variant	-	NC_000023.11:g.70860862T>C	gnomAD
TEX11	Q8IYF3	p.Met123Ile	NCI-TCGA novel	missense variant	-	chrX:g.70860857C>T	NCI-TCGA
TEX11	Q8IYF3	p.Asn125Tyr	rs1409837902	missense variant	-	NC_000023.11:g.70853325T>A	TOPMed
TEX11	Q8IYF3	p.Met126Val	rs1401602484	missense variant	-	NC_000023.11:g.70853322T>C	gnomAD
TEX11	Q8IYF3	p.Met126Ile	COSM4828853	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70853320C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Arg127Gly	rs1290827505	missense variant	-	NC_000023.11:g.70853319T>C	TOPMed
TEX11	Q8IYF3	p.Ile128Leu	rs767787700	missense variant	-	NC_000023.11:g.70853316T>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Lys130Arg	rs6525433	missense variant	-	NC_000023.11:g.70853309T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu131Lys	rs1314256178	missense variant	-	NC_000023.11:g.70853307C>T	TOPMed
TEX11	Q8IYF3	p.Glu131Ter	COSM3973817	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70853307C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Glu131Asp	rs1231349120	missense variant	-	NC_000023.11:g.70853305T>A	TOPMed
TEX11	Q8IYF3	p.Asp134His	NCI-TCGA novel	missense variant	-	chrX:g.70853298C>G	NCI-TCGA
TEX11	Q8IYF3	p.Ala135Val	COSM457934	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70853294G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Asn137Thr	rs746007852	missense variant	-	NC_000023.11:g.70853288T>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Phe138Val	NCI-TCGA novel	missense variant	-	chrX:g.70853286A>C	NCI-TCGA
TEX11	Q8IYF3	p.Leu139Ter	NCI-TCGA novel	frameshift	-	chrX:g.70853284A>-	NCI-TCGA
TEX11	Q8IYF3	p.Ile140Met	rs770843069	missense variant	-	NC_000023.11:g.70853278G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala141Thr	rs746940663	missense variant	-	NC_000023.11:g.70853277C>T	ExAC
TEX11	Q8IYF3	p.Glu143Val	rs1187226342	missense variant	-	NC_000023.11:g.70853270T>A	gnomAD
TEX11	Q8IYF3	p.Glu143Ter	COSM1124524	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70853271C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Glu143Lys	rs777581837	missense variant	-	NC_000023.11:g.70853271C>T	ExAC
TEX11	Q8IYF3	p.Gln146Arg	rs191462531	missense variant	-	NC_000023.11:g.70853261T>C	1000Genomes,ExAC,gnomAD
TEX11	Q8IYF3	p.Ala148Val	NCI-TCGA novel	missense variant	-	chrX:g.70853255G>A	NCI-TCGA
TEX11	Q8IYF3	p.Val149Leu	rs996795407	missense variant	-	NC_000023.11:g.70853253C>A	TOPMed
TEX11	Q8IYF3	p.Ala150Asp	NCI-TCGA novel	missense variant	-	chrX:g.70853249G>T	NCI-TCGA
TEX11	Q8IYF3	p.Leu152Gln	NCI-TCGA novel	missense variant	-	chrX:g.70853149A>T	NCI-TCGA
TEX11	Q8IYF3	p.Tyr156His	rs746945464	missense variant	-	NC_000023.11:g.70853138A>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Val157Ile	rs773083176	missense variant	-	NC_000023.11:g.70853135C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val157Ile	rs773083176	missense variant	-	chrX:g.70853135C>T	NCI-TCGA,NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Lys158Gln	rs181134374	missense variant	-	NC_000023.11:g.70853132T>G	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Lys158Asn	rs1294569476	missense variant	-	NC_000023.11:g.70853130T>G	TOPMed
TEX11	Q8IYF3	p.Ile160Phe	rs897271752	missense variant	-	NC_000023.11:g.70853126T>A	TOPMed
TEX11	Q8IYF3	p.Arg162Met	COSM1124523	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70853119C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ser163Arg	rs1468763544	missense variant	-	NC_000023.11:g.70853117T>G	gnomAD
TEX11	Q8IYF3	p.Pro165Ser	rs898803761	missense variant	-	NC_000023.11:g.70853111G>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp168Gly	rs1300917198	missense variant	-	NC_000023.11:g.70853101T>C	TOPMed
TEX11	Q8IYF3	p.Leu169Phe	rs747871574	missense variant	-	NC_000023.11:g.70853097C>G	ExAC,TOPMed
TEX11	Q8IYF3	p.Thr170Ser	rs1444272112	missense variant	-	NC_000023.11:g.70853096T>A	gnomAD
TEX11	Q8IYF3	p.Met171Val	rs143246552	missense variant	-	NC_000023.11:g.70853093T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Met171Val	RCV000173008	missense variant	Spermatogenic failure, X-linked, 2 (SPGFX2)	NC_000023.11:g.70853093T>C	ClinVar
TEX11	Q8IYF3	p.Glu172Asp	rs1295740489	missense variant	-	NC_000023.11:g.70853088C>A	gnomAD
TEX11	Q8IYF3	p.Thr175Ala	rs1341488009	missense variant	-	NC_000023.11:g.70853081T>C	TOPMed
TEX11	Q8IYF3	p.Glu177Lys	rs1365016323	missense variant	-	NC_000023.11:g.70853075C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser178Asn	rs1296061122	missense variant	-	NC_000023.11:g.70853071C>T	gnomAD
TEX11	Q8IYF3	p.Ser178Gly	rs1247146060	missense variant	-	NC_000023.11:g.70853072T>C	TOPMed
TEX11	Q8IYF3	p.Asp179Asn	rs779587803	missense variant	-	NC_000023.11:g.70853069C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.His180Leu	rs1489381711	missense variant	-	NC_000023.11:g.70853065T>A	TOPMed
TEX11	Q8IYF3	p.Val183Met	rs375000923	missense variant	-	NC_000023.11:g.70853057C>T	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Ser185Cys	NCI-TCGA novel	missense variant	-	chrX:g.70853050G>C	NCI-TCGA
TEX11	Q8IYF3	p.Ala191Thr	NCI-TCGA novel	missense variant	-	chrX:g.70833593C>T	NCI-TCGA
TEX11	Q8IYF3	p.Ala193Thr	rs1298977936	missense variant	-	NC_000023.11:g.70833587C>T	gnomAD
TEX11	Q8IYF3	p.Ala193SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.70833587_70833588insAACT	NCI-TCGA
TEX11	Q8IYF3	p.Gln194Arg	rs779629000	missense variant	-	NC_000023.11:g.70833583T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp196Asn	rs149131292	missense variant	-	NC_000023.11:g.70833578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Gln198Arg	rs1175408403	missense variant	-	NC_000023.11:g.70833571T>C	gnomAD
TEX11	Q8IYF3	p.Ser201Phe	rs1341513691	missense variant	-	NC_000023.11:g.70833562G>A	TOPMed
TEX11	Q8IYF3	p.Met202Thr	rs370291538	missense variant	-	NC_000023.11:g.70833559A>G	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Met202Ile	rs1450617584	missense variant	-	NC_000023.11:g.70833558C>T	TOPMed
TEX11	Q8IYF3	p.Gln206Leu	NCI-TCGA novel	missense variant	-	chrX:g.70833547T>A	NCI-TCGA
TEX11	Q8IYF3	p.Asp209Asn	rs1414528872	missense variant	-	NC_000023.11:g.70833539C>T	gnomAD
TEX11	Q8IYF3	p.Asp209Tyr	COSM1469097	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70833539C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Met210Thr	rs1196396837	missense variant	-	NC_000023.11:g.70833535A>G	gnomAD
TEX11	Q8IYF3	p.Met212Thr	rs1420664018	missense variant	-	NC_000023.11:g.70833529A>G	gnomAD
TEX11	Q8IYF3	p.Leu221Val	NCI-TCGA novel	missense variant	-	chrX:g.70806781G>C	NCI-TCGA
TEX11	Q8IYF3	p.His222Tyr	rs1455114798	missense variant	-	NC_000023.11:g.70806778G>A	gnomAD
TEX11	Q8IYF3	p.Gln233Lys	NCI-TCGA novel	missense variant	-	chrX:g.70806745G>T	NCI-TCGA
TEX11	Q8IYF3	p.Lys234Asn	NCI-TCGA novel	missense variant	-	chrX:g.70806740C>A	NCI-TCGA
TEX11	Q8IYF3	p.Asn236Asp	rs768423064	missense variant	-	NC_000023.11:g.70806736T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Tyr238Cys	rs149967739	missense variant	-	NC_000023.11:g.70806729T>C	ESP,gnomAD
TEX11	Q8IYF3	p.Ser242Tyr	rs775355719	missense variant	-	chrX:g.70806717G>T	NCI-TCGA
TEX11	Q8IYF3	p.Ser242Tyr	rs775355719	missense variant	-	NC_000023.11:g.70806717G>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Gln247Lys	rs1233129234	missense variant	-	NC_000023.11:g.70744218G>T	gnomAD
TEX11	Q8IYF3	p.Ser248Asn	COSM3563032	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70744214C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ser248Ile	COSM1124522	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70744214C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Tyr249Phe	rs762509635	missense variant	-	NC_000023.11:g.70744211T>A	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp250His	rs1352574436	missense variant	-	NC_000023.11:g.70744209C>G	TOPMed
TEX11	Q8IYF3	p.Asp250Val	rs1249191150	missense variant	-	NC_000023.11:g.70744208T>A	gnomAD
TEX11	Q8IYF3	p.Asp250Ala	NCI-TCGA novel	missense variant	-	chrX:g.70744208T>G	NCI-TCGA
TEX11	Q8IYF3	p.Ile251Phe	rs767565935	missense variant	-	NC_000023.11:g.70744206T>A	ExAC,TOPMed
TEX11	Q8IYF3	p.Met254Ile	rs1294101701	missense variant	-	NC_000023.11:g.70744195C>T	TOPMed
TEX11	Q8IYF3	p.Met254Thr	NCI-TCGA novel	missense variant	-	chrX:g.70744196A>G	NCI-TCGA
TEX11	Q8IYF3	p.Asp255Asn	rs757383142	missense variant	-	NC_000023.11:g.70744194C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Asp255Gly	rs751491935	missense variant	-	NC_000023.11:g.70744193T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Lys256Glu	NCI-TCGA novel	missense variant	-	chrX:g.70744191T>C	NCI-TCGA
TEX11	Q8IYF3	p.Thr259Ile	rs762957753	missense variant	-	NC_000023.11:g.70744181G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr259Ala	rs376793868	missense variant	-	NC_000023.11:g.70744182T>C	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Thr259Ile	rs762957753	missense variant	-	chrX:g.70744181G>A	NCI-TCGA
TEX11	Q8IYF3	p.Thr259Ser	rs376793868	missense variant	-	NC_000023.11:g.70744182T>A	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Gly260Arg	rs1236503664	missense variant	-	NC_000023.11:g.70744179C>T	TOPMed
TEX11	Q8IYF3	p.Pro261Ser	rs775098071	missense variant	-	NC_000023.11:g.70744176G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Lys266Asn	rs1283604357	missense variant	-	NC_000023.11:g.70740791T>A	TOPMed
TEX11	Q8IYF3	p.Val267Ile	COSM6119219	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70740790C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu268Ile	COSM3424917	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70740787G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Arg269Gln	rs1164466971	missense variant	-	NC_000023.11:g.70740783C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg269Trp	rs756553436	missense variant	-	NC_000023.11:g.70740784G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Thr273Met	rs781457497	missense variant	-	NC_000023.11:g.70740771G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn274Ser	rs370599644	missense variant	-	NC_000023.11:g.70740768T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Tyr275Cys	rs764252789	missense variant	-	NC_000023.11:g.70740765T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Trp278Leu	COSM1469096	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70740756C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Thr281Ala	rs996232982	missense variant	-	NC_000023.11:g.70740748T>C	gnomAD
TEX11	Q8IYF3	p.Tyr283His	NCI-TCGA novel	missense variant	-	chrX:g.70740742A>G	NCI-TCGA
TEX11	Q8IYF3	p.Tyr284Cys	rs1479630994	missense variant	-	NC_000023.11:g.70740738T>C	gnomAD
TEX11	Q8IYF3	p.Asp285Tyr	rs776556073	missense variant	-	NC_000023.11:g.70740736C>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp285Asn	rs776556073	missense variant	-	chrX:g.70740736C>T	NCI-TCGA
TEX11	Q8IYF3	p.Asp285Asn	rs776556073	missense variant	-	NC_000023.11:g.70740736C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu288Phe	rs1453413711	missense variant	-	NC_000023.11:g.70740727G>A	TOPMed
TEX11	Q8IYF3	p.Asn289Ser	rs375896248	missense variant	-	NC_000023.11:g.70740723T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn292Thr	NCI-TCGA novel	missense variant	-	chrX:g.70740714T>G	NCI-TCGA
TEX11	Q8IYF3	p.Glu297Lys	rs372375453	missense variant	-	NC_000023.11:g.70725343C>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.His298Tyr	rs368140818	missense variant	-	NC_000023.11:g.70725340G>A	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser301Phe	COSM25584	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70725330G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ser301Tyr	COSM4841191	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70725330G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Met308Ile	COSM1715107	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70725308C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Lys309Asn	NCI-TCGA novel	missense variant	-	chrX:g.70725305T>G	NCI-TCGA
TEX11	Q8IYF3	p.Leu311Phe	rs1442546702	missense variant	-	NC_000023.11:g.70725301G>A	gnomAD
TEX11	Q8IYF3	p.Gly314Ser	rs747262390	missense variant	-	NC_000023.11:g.70725292C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu315Lys	rs575754903	missense variant	-	NC_000023.11:g.70725289C>T	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser317Cys	rs778845628	missense variant	-	NC_000023.11:g.70725282G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ser317Pro	COSM1124520	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70725283A>G	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Glu319Lys	rs1312102683	missense variant	-	NC_000023.11:g.70725277C>T	TOPMed
TEX11	Q8IYF3	p.Glu319Lys	NCI-TCGA novel	missense variant	-	chrX:g.70725277C>T	NCI-TCGA
TEX11	Q8IYF3	p.Glu320Asp	rs1414225026	missense variant	-	NC_000023.11:g.70725272T>A	gnomAD
TEX11	Q8IYF3	p.Glu323Asp	rs1014233938	missense variant	-	NC_000023.11:g.70725263T>G	TOPMed,gnomAD
TEX11	Q8IYF3	p.Val325Ala	rs914609885	missense variant	-	NC_000023.11:g.70722693A>G	TOPMed
TEX11	Q8IYF3	p.Val325Asp	COSM4862675	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70722693A>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Met326Val	rs1263202185	missense variant	-	NC_000023.11:g.70722691T>C	TOPMed
TEX11	Q8IYF3	p.His330Tyr	NCI-TCGA novel	missense variant	-	chrX:g.70722679G>A	NCI-TCGA
TEX11	Q8IYF3	p.Leu331Arg	rs1478507641	missense variant	-	NC_000023.11:g.70722675A>C	TOPMed
TEX11	Q8IYF3	p.Asp332Val	rs1157252761	missense variant	-	NC_000023.11:g.70722672T>A	gnomAD
TEX11	Q8IYF3	p.Met333Val	rs1325231564	missense variant	-	NC_000023.11:g.70722670T>C	gnomAD
TEX11	Q8IYF3	p.Asp336Gly	rs1476208283	missense variant	-	NC_000023.11:g.70722660T>C	gnomAD
TEX11	Q8IYF3	p.Asp336Gly	NCI-TCGA novel	missense variant	-	chrX:g.70722660T>C	NCI-TCGA
TEX11	Q8IYF3	p.Asn340Lys	rs374217762	missense variant	-	NC_000023.11:g.70722647G>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile341Val	rs1471807161	missense variant	-	NC_000023.11:g.70722646T>C	gnomAD
TEX11	Q8IYF3	p.Ala342Val	rs1391048608	missense variant	-	NC_000023.11:g.70722642G>A	gnomAD
TEX11	Q8IYF3	p.His348Tyr	COSM4380213	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70722625G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Arg350LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.70722618_70722619insT	NCI-TCGA
TEX11	Q8IYF3	p.Glu351Ter	NCI-TCGA novel	stop gained	-	chrX:g.70682824C>A	NCI-TCGA
TEX11	Q8IYF3	p.Glu351Gly	rs1164088818	missense variant	-	NC_000023.11:g.70682823T>C	gnomAD
TEX11	Q8IYF3	p.Ser352Tyr	NCI-TCGA novel	missense variant	-	chrX:g.70682820G>T	NCI-TCGA
TEX11	Q8IYF3	p.Ser352Phe	COSM1124519	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70682820G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Phe355Ser	rs1056191384	missense variant	-	NC_000023.11:g.70682811A>G	TOPMed
TEX11	Q8IYF3	p.Thr359Met	rs760003842	missense variant	-	chrX:g.70682799G>A	NCI-TCGA
TEX11	Q8IYF3	p.Thr359Met	rs760003842	missense variant	-	NC_000023.11:g.70682799G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.His362Asn	rs761167331	missense variant	-	NC_000023.11:g.70682791G>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Glu363Lys	COSM1124518	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70682788C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Arg364His	rs201471690	missense variant	-	NC_000023.11:g.70682784C>T	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg364Cys	rs773463882	missense variant	-	chrX:g.70682785G>A	NCI-TCGA,NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Arg364Gly	rs773463882	missense variant	-	NC_000023.11:g.70682785G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg364Cys	rs773463882	missense variant	-	NC_000023.11:g.70682785G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Phe365Cys	rs1344575473	missense variant	-	NC_000023.11:g.70682781A>C	TOPMed
TEX11	Q8IYF3	p.Lys366Gln	rs748351059	missense variant	-	NC_000023.11:g.70682779T>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Lys366Thr	rs1488563150	missense variant	-	NC_000023.11:g.70682778T>G	gnomAD
TEX11	Q8IYF3	p.Ser368Leu	rs774542802	missense variant	-	NC_000023.11:g.70682772G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu369Lys	NCI-TCGA novel	missense variant	-	chrX:g.70682770C>T	NCI-TCGA
TEX11	Q8IYF3	p.Ile371Asn	rs977597709	missense variant	-	NC_000023.11:g.70682763A>T	gnomAD
TEX11	Q8IYF3	p.Ile371Thr	rs977597709	missense variant	-	NC_000023.11:g.70682763A>G	gnomAD
TEX11	Q8IYF3	p.Ile371Leu	rs1277438610	missense variant	-	NC_000023.11:g.70682764T>G	gnomAD
TEX11	Q8IYF3	p.Gly372Glu	COSM5066585	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70682760C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu375Met	COSM6119224	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70682752G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Asp380Gly	rs1388885484	missense variant	-	NC_000023.11:g.70682736T>C	gnomAD
TEX11	Q8IYF3	p.Met381Val	rs749226768	missense variant	-	NC_000023.11:g.70682734T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Lys386Asn	COSM6187499	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70682717C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu390Pro	rs1169164404	missense variant	-	NC_000023.11:g.70682706A>G	gnomAD
TEX11	Q8IYF3	p.Leu390Ile	rs1372440853	missense variant	-	NC_000023.11:g.70682707G>T	gnomAD
TEX11	Q8IYF3	p.Leu390Arg	NCI-TCGA novel	missense variant	-	chrX:g.70682706A>C	NCI-TCGA
TEX11	Q8IYF3	p.Lys392Asn	NCI-TCGA novel	missense variant	-	chrX:g.70682699C>A	NCI-TCGA
TEX11	Q8IYF3	p.Ile395Met	NCI-TCGA novel	missense variant	-	chrX:g.70682690A>C	NCI-TCGA
TEX11	Q8IYF3	p.Glu396Lys	rs756129568	missense variant	-	NC_000023.11:g.70682689C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Glu397Ter	NCI-TCGA novel	stop gained	-	chrX:g.70682686C>A	NCI-TCGA
TEX11	Q8IYF3	p.Ile398Thr	rs1175350982	missense variant	-	NC_000023.11:g.70682682A>G	TOPMed,gnomAD
TEX11	Q8IYF3	p.Phe399Leu	NCI-TCGA novel	missense variant	-	chrX:g.70682678A>T	NCI-TCGA
TEX11	Q8IYF3	p.Leu400Ser	rs1433539772	missense variant	-	NC_000023.11:g.70682676A>G	gnomAD
TEX11	Q8IYF3	p.Gln403Arg	rs150528179	missense variant	-	NC_000023.11:g.70678883T>C	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Gln403Leu	rs150528179	missense variant	-	NC_000023.11:g.70678883T>A	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Gly405Glu	rs1316679274	missense variant	-	NC_000023.11:g.70678877C>T	gnomAD
TEX11	Q8IYF3	p.Glu411Asp	rs768856343	missense variant	-	NC_000023.11:g.70678858T>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Trp415Cys	rs775722432	missense variant	-	NC_000023.11:g.70678846C>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu416Phe	rs1192348306	missense variant	-	NC_000023.11:g.70678843T>G	TOPMed
TEX11	Q8IYF3	p.His417Gln	rs769718746	missense variant	-	NC_000023.11:g.70678840G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu420Val	rs745821043	missense variant	-	NC_000023.11:g.70678833G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Trp421Ser	COSM4862558	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70678829C>G	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ala425Thr	rs1392568993	missense variant	-	NC_000023.11:g.70678818C>T	TOPMed
TEX11	Q8IYF3	p.Ala425Thr	NCI-TCGA novel	missense variant	-	chrX:g.70678818C>T	NCI-TCGA
TEX11	Q8IYF3	p.Ser426Arg	rs746657583	missense variant	-	NC_000023.11:g.70678813A>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser426Asn	COSM3992563	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70678814C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ser427Asn	rs1016690543	missense variant	-	NC_000023.11:g.70678811C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Phe428LeuPheSerTerUnkUnk	COSM292828	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.70678807A>-	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Glu429Lys	COSM3845269	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70678806C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Thr434Ser	rs1269049143	missense variant	-	NC_000023.11:g.70670501G>C	gnomAD
TEX11	Q8IYF3	p.Asp435Ala	rs775667438	missense variant	-	NC_000023.11:g.70670498T>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala436Thr	rs1234421331	missense variant	-	NC_000023.11:g.70670496C>T	TOPMed
TEX11	Q8IYF3	p.Ala436Val	COSM6008711	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70670495G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu437Ile	NCI-TCGA novel	missense variant	-	chrX:g.70670493G>T	NCI-TCGA
TEX11	Q8IYF3	p.Gln438His	NCI-TCGA novel	missense variant	-	chrX:g.70670488T>A	NCI-TCGA
TEX11	Q8IYF3	p.Tyr441Cys	rs759491904	missense variant	-	NC_000023.11:g.70670480T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser443Tyr	NCI-TCGA novel	missense variant	-	chrX:g.70670474G>T	NCI-TCGA
TEX11	Q8IYF3	p.Thr449Ile	rs746739636	missense variant	-	NC_000023.11:g.70670456G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Thr449Ala	rs199871594	missense variant	-	NC_000023.11:g.70670457T>C	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr449Ser	NCI-TCGA novel	missense variant	-	chrX:g.70670456G>C	NCI-TCGA
TEX11	Q8IYF3	p.Asp450Glu	rs1365611506	missense variant	-	NC_000023.11:g.70670452A>C	gnomAD
TEX11	Q8IYF3	p.Glu451Lys	rs4844247	missense variant	-	NC_000023.11:g.70670451C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Met452Ile	NCI-TCGA novel	missense variant	-	chrX:g.70670446C>T	NCI-TCGA
TEX11	Q8IYF3	p.Phe456Leu	rs1392265395	missense variant	-	NC_000023.11:g.70670436A>G	gnomAD
TEX11	Q8IYF3	p.Thr457Ser	rs747838848	missense variant	-	NC_000023.11:g.70670432G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Asn462ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.70670417T>-	NCI-TCGA
TEX11	Q8IYF3	p.Ala464Thr	NCI-TCGA novel	missense variant	-	chrX:g.70670412C>T	NCI-TCGA
TEX11	Q8IYF3	p.Cys465Gly	rs1456954813	missense variant	-	NC_000023.11:g.70670409A>C	gnomAD
TEX11	Q8IYF3	p.Leu473Val	rs941159712	missense variant	-	NC_000023.11:g.70670385G>C	gnomAD
TEX11	Q8IYF3	p.Asp474Asn	COSM3563030	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70670382C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Val480Met	rs1323780348	missense variant	-	NC_000023.11:g.70651540C>T	gnomAD
TEX11	Q8IYF3	p.Glu484Lys	NCI-TCGA novel	missense variant	-	chrX:g.70651528C>T	NCI-TCGA
TEX11	Q8IYF3	p.Arg485Gln	NCI-TCGA novel	missense variant	-	chrX:g.70651524C>T	NCI-TCGA
TEX11	Q8IYF3	p.Arg485Ter	COSM1497343	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70651525G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Arg485Gln	rs1385768042	missense variant	-	NC_000023.11:g.70651524C>T	gnomAD
TEX11	Q8IYF3	p.Asp487Asn	rs759598658	missense variant	-	NC_000023.11:g.70651519C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg489Thr	rs770715653	missense variant	-	NC_000023.11:g.70651512C>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg489Gly	rs1210524250	missense variant	-	NC_000023.11:g.70651513T>C	TOPMed
TEX11	Q8IYF3	p.Arg489Lys	rs770715653	missense variant	-	NC_000023.11:g.70651512C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Asn490Tyr	NCI-TCGA novel	missense variant	-	chrX:g.70651510T>A	NCI-TCGA
TEX11	Q8IYF3	p.Asn490Ser	rs760637499	missense variant	-	NC_000023.11:g.70651509T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Val491Ile	rs772959829	missense variant	-	NC_000023.11:g.70651507C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Phe492Cys	rs771905076	missense variant	-	NC_000023.11:g.70651503A>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Gln494Ter	COSM4862159	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70651498G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ile497Met	rs1207215808	missense variant	-	NC_000023.11:g.70651487T>C	gnomAD
TEX11	Q8IYF3	p.Ile497Arg	rs1266790102	missense variant	-	NC_000023.11:g.70651488A>C	gnomAD
TEX11	Q8IYF3	p.Ile497Val	rs144438018	missense variant	-	NC_000023.11:g.70651489T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile503Val	rs1263475450	missense variant	-	NC_000023.11:g.70651471T>C	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile503Thr	rs778499884	missense variant	-	NC_000023.11:g.70651470A>G	ExAC
TEX11	Q8IYF3	p.Glu504Gln	NCI-TCGA novel	missense variant	-	chrX:g.70651468C>G	NCI-TCGA
TEX11	Q8IYF3	p.Glu504Gln	rs1483378881	missense variant	-	NC_000023.11:g.70651468C>G	gnomAD
TEX11	Q8IYF3	p.Gly505Ser	COSM4901803	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70651465C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Asn506Lys	rs144149425	missense variant	-	NC_000023.11:g.70651460G>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn506Lys	rs144149425	missense variant	-	NC_000023.11:g.70651460G>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser507Cys	rs748692382	missense variant	-	NC_000023.11:g.70651458G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser507Pro	rs1225961297	missense variant	-	NC_000023.11:g.70651459A>G	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser507Thr	rs1225961297	missense variant	-	NC_000023.11:g.70651459A>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser507Tyr	rs748692382	missense variant	-	NC_000023.11:g.70651458G>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu508Lys	rs779642423	missense variant	-	NC_000023.11:g.70651456C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg509Ile	COSM1124516	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70651452C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Arg509Lys	COSM3563029	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70651452C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ala513Val	NCI-TCGA novel	missense variant	-	chrX:g.70629726G>A	NCI-TCGA
TEX11	Q8IYF3	p.Ala513Thr	rs768148480	missense variant	-	NC_000023.11:g.70629727C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Thr516Ala	rs748997672	missense variant	-	NC_000023.11:g.70629718T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Thr516Ile	rs760892950	missense variant	-	NC_000023.11:g.70629717G>A	1000Genomes,ExAC,gnomAD
TEX11	Q8IYF3	p.Leu517Val	rs1351844566	missense variant	-	NC_000023.11:g.70629715A>C	TOPMed
TEX11	Q8IYF3	p.Glu518Asp	NCI-TCGA novel	missense variant	-	chrX:g.70629710C>A	NCI-TCGA
TEX11	Q8IYF3	p.Asn519Thr	rs147097227	missense variant	-	NC_000023.11:g.70629708T>G	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn519His	rs1278948309	missense variant	-	NC_000023.11:g.70629709T>G	TOPMed
TEX11	Q8IYF3	p.Asp523Asn	NCI-TCGA novel	missense variant	-	chrX:g.70629697C>T	NCI-TCGA
TEX11	Q8IYF3	p.Asp523His	rs1335352653	missense variant	-	NC_000023.11:g.70629697C>G	gnomAD
TEX11	Q8IYF3	p.Ser526Pro	rs1220744701	missense variant	-	NC_000023.11:g.70629688A>G	TOPMed
TEX11	Q8IYF3	p.Glu527Gly	rs778488744	missense variant	-	NC_000023.11:g.70629684T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu527Val	rs778488744	missense variant	-	NC_000023.11:g.70629684T>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu527ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.70629684_70629685insAGACACAGAAGAGACCTTTA	NCI-TCGA
TEX11	Q8IYF3	p.Asp528Gly	rs748403753	missense variant	-	NC_000023.11:g.70629681T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Asp528LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.70629682_70629683insAG	NCI-TCGA
TEX11	Q8IYF3	p.Asp530Glu	COSM6187503	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70629674A>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ala533Thr	NCI-TCGA novel	missense variant	-	chrX:g.70629667C>T	NCI-TCGA
TEX11	Q8IYF3	p.Glu534Lys	COSM3563028	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70629664C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Glu534Lys	rs1175422491	missense variant	-	NC_000023.11:g.70629664C>T	gnomAD
TEX11	Q8IYF3	p.Met540Val	NCI-TCGA novel	missense variant	-	chrX:g.70629646T>C	NCI-TCGA
TEX11	Q8IYF3	p.Leu544Ser	rs755124384	missense variant	-	NC_000023.11:g.70629633A>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Glu551Asp	NCI-TCGA novel	missense variant	-	chrX:g.70629611C>A	NCI-TCGA
TEX11	Q8IYF3	p.Gln555Lys	rs749468065	missense variant	-	NC_000023.11:g.70624915G>T	ExAC
TEX11	Q8IYF3	p.Ile556Val	COSM1132275	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70624912T>C	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu562Trp	NCI-TCGA novel	missense variant	-	chrX:g.70624893A>C	NCI-TCGA
TEX11	Q8IYF3	p.Leu565Ser	NCI-TCGA novel	missense variant	-	chrX:g.70624884A>G	NCI-TCGA
TEX11	Q8IYF3	p.Ala566Ser	NCI-TCGA novel	missense variant	-	chrX:g.70624882C>A	NCI-TCGA
TEX11	Q8IYF3	p.Leu576Ile	COSM1228993	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70624852G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Thr577Ile	rs756344129	missense variant	-	NC_000023.11:g.70624848G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Ala578Thr	NCI-TCGA novel	missense variant	-	chrX:g.70624846C>T	NCI-TCGA
TEX11	Q8IYF3	p.Val579Ile	rs1249602743	missense variant	-	NC_000023.11:g.70624843C>T	gnomAD
TEX11	Q8IYF3	p.Lys580Met	COSM4898505	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70624839T>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu583Val	rs1438744662	missense variant	-	NC_000023.11:g.70623999G>C	TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg584His	rs1350493086	missense variant	-	NC_000023.11:g.70623995C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg584Cys	rs867999229	missense variant	-	NC_000023.11:g.70623996G>A	TOPMed
TEX11	Q8IYF3	p.Arg584His	COSM1715106	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70623995C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Arg584Ser	rs867999229	missense variant	-	NC_000023.11:g.70623996G>T	TOPMed
TEX11	Q8IYF3	p.Leu587Ile	rs759282918	missense variant	-	NC_000023.11:g.70623987G>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Pro588Leu	rs1422599964	missense variant	-	NC_000023.11:g.70623983G>A	gnomAD
TEX11	Q8IYF3	p.Ala591Thr	NCI-TCGA novel	missense variant	-	chrX:g.70623975C>T	NCI-TCGA
TEX11	Q8IYF3	p.Met593Ile	rs776240375	missense variant	-	NC_000023.11:g.70623967C>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Pro594Leu	rs770614604	missense variant	-	chrX:g.70623965G>A	NCI-TCGA
TEX11	Q8IYF3	p.Pro594Leu	rs770614604	missense variant	-	NC_000023.11:g.70623965G>A	ExAC
TEX11	Q8IYF3	p.Glu597Lys	rs1448619578	missense variant	-	NC_000023.11:g.70623957C>T	gnomAD
TEX11	Q8IYF3	p.Glu602Ter	COSM258165	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70610536C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Met603Val	rs367895713	missense variant	-	NC_000023.11:g.70610533T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp604Asn	rs753602584	missense variant	-	NC_000023.11:g.70610530C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg605Gln	NCI-TCGA novel	missense variant	-	chrX:g.70610526C>T	NCI-TCGA
TEX11	Q8IYF3	p.Arg605Ter	COSM1124514	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70610527G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu607Ser	NCI-TCGA novel	missense variant	-	chrX:g.70610520A>G	NCI-TCGA
TEX11	Q8IYF3	p.Cys609Tyr	rs200375710	missense variant	-	NC_000023.11:g.70610514C>T	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg612Lys	NCI-TCGA novel	missense variant	-	chrX:g.70610505C>T	NCI-TCGA
TEX11	Q8IYF3	p.Arg612Ser	rs769159981	missense variant	-	NC_000023.11:g.70610504T>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val615Leu	rs748136631	missense variant	-	NC_000023.11:g.70609172C>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Val615Ala	rs899490660	missense variant	-	NC_000023.11:g.70609171A>G	TOPMed
TEX11	Q8IYF3	p.Leu617Phe	rs1458382171	missense variant	-	NC_000023.11:g.70609166G>A	gnomAD
TEX11	Q8IYF3	p.Pro620Arg	rs139166251	missense variant	-	NC_000023.11:g.70609156G>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Pro620Ala	rs1356655384	missense variant	-	NC_000023.11:g.70609157G>C	TOPMed
TEX11	Q8IYF3	p.Glu624Lys	rs754888467	missense variant	-	NC_000023.11:g.70609145C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala625Gly	rs1419073971	missense variant	-	NC_000023.11:g.70609141G>C	gnomAD
TEX11	Q8IYF3	p.Leu626Ser	rs753691449	missense variant	-	NC_000023.11:g.70609138A>G	ExAC
TEX11	Q8IYF3	p.Glu629Gln	rs766000467	missense variant	-	NC_000023.11:g.70609130C>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn633Lys	rs1483764414	missense variant	-	NC_000023.11:g.70609116A>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Gln636Pro	COSM6119230	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70609108T>G	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Trp637Arg	rs368829218	missense variant	-	NC_000023.11:g.70609106A>G	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg639Gln	NCI-TCGA novel	missense variant	-	chrX:g.70609099C>T	NCI-TCGA
TEX11	Q8IYF3	p.Thr641Ser	rs1184455196	missense variant	-	NC_000023.11:g.70609094T>A	TOPMed
TEX11	Q8IYF3	p.Ala642Thr	rs1410393922	missense variant	-	NC_000023.11:g.70609091C>T	gnomAD
TEX11	Q8IYF3	p.Leu645Phe	rs1298337752	missense variant	-	NC_000023.11:g.70607019C>A	TOPMed
TEX11	Q8IYF3	p.Val654Leu	NCI-TCGA novel	missense variant	-	chrX:g.70606994C>A	NCI-TCGA
TEX11	Q8IYF3	p.Met655Ile	COSM3563025	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70606989C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Met655Thr	COSM72948	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70606990A>G	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Met656Ile	NCI-TCGA novel	missense variant	-	chrX:g.70606986C>T	NCI-TCGA
TEX11	Q8IYF3	p.Ile661Thr	rs754977606	missense variant	-	NC_000023.11:g.70606972A>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile661TyrPheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.70606973_70606974insA	NCI-TCGA
TEX11	Q8IYF3	p.Ser663Tyr	NCI-TCGA novel	missense variant	-	chrX:g.70606966G>T	NCI-TCGA
TEX11	Q8IYF3	p.Tyr664Cys	COSM1124513	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70606963T>C	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Met666Val	rs1484944012	missense variant	-	NC_000023.11:g.70605517T>C	TOPMed
TEX11	Q8IYF3	p.Met666Ile	rs769530525	missense variant	-	NC_000023.11:g.70605515C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Ser672Ala	rs1210879579	missense variant	-	NC_000023.11:g.70605499A>C	TOPMed
TEX11	Q8IYF3	p.Leu677Pro	rs756919847	missense variant	-	NC_000023.11:g.70605483A>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Leu677Arg	rs756919847	missense variant	-	NC_000023.11:g.70605483A>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile678Thr	rs1473803724	missense variant	-	NC_000023.11:g.70605480A>G	TOPMed
TEX11	Q8IYF3	p.Arg680Gln	rs202064716	missense variant	-	NC_000023.11:g.70605474C>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Lys681Glu	rs1406736013	missense variant	-	NC_000023.11:g.70605472T>C	TOPMed
TEX11	Q8IYF3	p.Thr682Ala	NCI-TCGA novel	missense variant	-	chrX:g.70605469T>C	NCI-TCGA
TEX11	Q8IYF3	p.Leu685Phe	rs777298782	missense variant	-	NC_000023.11:g.70605460G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Val688Gly	rs755448482	missense variant	-	NC_000023.11:g.70605450A>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ala689Thr	rs1421446151	missense variant	-	NC_000023.11:g.70605448C>T	gnomAD
TEX11	Q8IYF3	p.Glu693Gln	NCI-TCGA novel	missense variant	-	chrX:g.70605436C>G	NCI-TCGA
TEX11	Q8IYF3	p.Gly695Glu	NCI-TCGA novel	missense variant	-	chrX:g.70605429C>T	NCI-TCGA
TEX11	Q8IYF3	p.Arg696Lys	COSM1686327	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70605426C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ala698Thr	RCV000173009	missense variant	Spermatogenic failure, X-linked, 2 (SPGFX2)	NC_000023.11:g.70605421C>T	ClinVar
TEX11	Q8IYF3	p.Ala698Thr	rs140984555	missense variant	-	NC_000023.11:g.70605421C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser699Ter	COSM3406549	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70605417G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Glu703Val	rs750813136	missense variant	-	NC_000023.11:g.70605405T>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg710Cys	rs757962095	missense variant	-	NC_000023.11:g.70591808G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Glu713Ala	COSM1469090	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70591798T>G	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ile715Thr	rs1412151866	missense variant	-	NC_000023.11:g.70591792A>G	gnomAD
TEX11	Q8IYF3	p.Thr717Ala	rs1336871415	missense variant	-	NC_000023.11:g.70591787T>C	TOPMed,gnomAD
TEX11	Q8IYF3	p.Cys718Phe	NCI-TCGA novel	missense variant	-	chrX:g.70591783C>A	NCI-TCGA
TEX11	Q8IYF3	p.Cys718Ter	COSM6187505	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70591782G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Asn719Ser	rs1408551678	missense variant	-	NC_000023.11:g.70591780T>C	gnomAD
TEX11	Q8IYF3	p.Asp720Val	rs1404671794	missense variant	-	NC_000023.11:g.70591777T>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.His722Arg	rs756666108	missense variant	-	NC_000023.11:g.70591771T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Gln727His	rs373821400	missense variant	-	NC_000023.11:g.70591755T>G	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Phe731Leu	NCI-TCGA novel	missense variant	-	chrX:g.70554793G>T	NCI-TCGA
TEX11	Q8IYF3	p.Ser732Leu	rs376047420	missense variant	-	NC_000023.11:g.70554791G>A	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp734Tyr	rs1337652466	missense variant	-	NC_000023.11:g.70554786C>A	gnomAD
TEX11	Q8IYF3	p.Cys736Arg	rs1160423060	missense variant	-	NC_000023.11:g.70554780A>G	gnomAD
TEX11	Q8IYF3	p.Leu740Phe	rs771769122	missense variant	-	NC_000023.11:g.70554768G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Val747Ile	rs151048734	missense variant	-	NC_000023.11:g.70554747C>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp753Tyr	COSM6187507	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70554729C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu756Val	NCI-TCGA novel	missense variant	-	chrX:g.70554720G>C	NCI-TCGA
TEX11	Q8IYF3	p.Glu761Lys	COSM4848367	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70554705C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Val763Leu	rs143644139	missense variant	-	NC_000023.11:g.70554699C>A	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val763Ala	rs200139216	missense variant	-	NC_000023.11:g.70554698A>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu765Gly	rs1249479557	missense variant	-	NC_000023.11:g.70554692T>C	gnomAD
TEX11	Q8IYF3	p.His768Pro	COSM1497345	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70554683T>G	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Thr771Ala	rs757760270	missense variant	-	NC_000023.11:g.70554675T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Lys772Glu	COSM3563024	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70554672T>C	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Thr776Ala	NCI-TCGA novel	missense variant	-	chrX:g.70554660T>C	NCI-TCGA
TEX11	Q8IYF3	p.Ile779Val	rs1433357782	missense variant	-	NC_000023.11:g.70554651T>C	TOPMed
TEX11	Q8IYF3	p.Ile779Thr	rs1282035365	missense variant	-	NC_000023.11:g.70553414A>G	TOPMed
TEX11	Q8IYF3	p.Met782Thr	rs1485266259	missense variant	-	NC_000023.11:g.70553405A>G	gnomAD
TEX11	Q8IYF3	p.Glu783Asp	rs1239794640	missense variant	-	NC_000023.11:g.70553401T>G	gnomAD
TEX11	Q8IYF3	p.Ala786Val	rs1205572216	missense variant	-	NC_000023.11:g.70553393G>A	gnomAD
TEX11	Q8IYF3	p.His787Gln	COSM1124512	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70553389G>C	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Tyr788Cys	rs760404246	missense variant	-	NC_000023.11:g.70553387T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Pro789Thr	rs771582546	missense variant	-	NC_000023.11:g.70553385G>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Pro789His	NCI-TCGA novel	missense variant	-	chrX:g.70553384G>T	NCI-TCGA
TEX11	Q8IYF3	p.Ala792Val	rs1298024192	missense variant	-	NC_000023.11:g.70553375G>A	gnomAD
TEX11	Q8IYF3	p.Ala792Val	NCI-TCGA novel	missense variant	-	chrX:g.70553375G>A	NCI-TCGA
TEX11	Q8IYF3	p.Leu793Phe	rs747873016	missense variant	-	NC_000023.11:g.70553373G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Lys798Asn	COSM1124511	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70553356C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu802Phe	rs768268510	missense variant	-	NC_000023.11:g.70553346G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Lys804Arg	rs1302431284	missense variant	-	NC_000023.11:g.70553339T>C	gnomAD
TEX11	Q8IYF3	p.Lys805Met	rs1338579232	missense variant	-	NC_000023.11:g.70553336T>A	TOPMed
TEX11	Q8IYF3	p.Glu806Gly	NCI-TCGA novel	missense variant	-	chrX:g.70553333T>C	NCI-TCGA
TEX11	Q8IYF3	p.Glu806Gln	NCI-TCGA novel	missense variant	-	chrX:g.70553334C>G	NCI-TCGA
TEX11	Q8IYF3	p.Glu807Asp	rs1210179902	missense variant	-	NC_000023.11:g.70553329T>A	TOPMed
TEX11	Q8IYF3	p.Pro808Gln	rs1422541197	missense variant	-	NC_000023.11:g.70553327G>T	gnomAD
TEX11	Q8IYF3	p.Ile811Val	rs781735348	missense variant	-	NC_000023.11:g.70553319T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile811Leu	rs781735348	missense variant	-	NC_000023.11:g.70553319T>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile811Leu	rs781735348	missense variant	-	NC_000023.11:g.70553319T>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile811Thr	rs1290920334	missense variant	-	NC_000023.11:g.70553318A>G	TOPMed
TEX11	Q8IYF3	p.Gln813Arg	rs202136447	missense variant	-	NC_000023.11:g.70553312T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Gln813Lys	rs143397565	missense variant	-	NC_000023.11:g.70553313G>T	ESP,ExAC,TOPMed
TEX11	Q8IYF3	p.Ser815Arg	rs201040035	missense variant	-	NC_000023.11:g.70553307T>G	1000Genomes,ExAC
TEX11	Q8IYF3	p.Asn820Asp	rs140957385	missense variant	-	NC_000023.11:g.70552233T>C	ESP,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val822Ile	rs761355754	missense variant	-	NC_000023.11:g.70552227C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Val822Leu	rs761355754	missense variant	-	NC_000023.11:g.70552227C>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Asn823His	rs1469887273	missense variant	-	NC_000023.11:g.70552224T>G	gnomAD
TEX11	Q8IYF3	p.Leu824Phe	rs1427917315	missense variant	-	NC_000023.11:g.70552221G>A	gnomAD
TEX11	Q8IYF3	p.Pro827Ser	COSM4110775	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70552212G>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ala830Val	rs774117470	missense variant	-	NC_000023.11:g.70552202G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala830Thr	rs1253261339	missense variant	-	NC_000023.11:g.70552203C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala830Val	rs774117470	missense variant	-	chrX:g.70552202G>A	NCI-TCGA
TEX11	Q8IYF3	p.Ala830Ser	rs1253261339	missense variant	-	NC_000023.11:g.70552203C>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser831Pro	NCI-TCGA novel	missense variant	-	chrX:g.70552200A>G	NCI-TCGA
TEX11	Q8IYF3	p.Ser831Leu	rs762490798	missense variant	-	chrX:g.70552199G>A	NCI-TCGA
TEX11	Q8IYF3	p.Ser831Leu	rs762490798	missense variant	-	NC_000023.11:g.70552199G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Asn832Ser	rs1324379138	missense variant	-	NC_000023.11:g.70552196T>C	gnomAD
TEX11	Q8IYF3	p.Val833Ile	rs747562165	missense variant	-	NC_000023.11:g.70552194C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu834Gln	rs371524119	missense variant	-	NC_000023.11:g.70552191C>G	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Leu835Pro	rs1390635635	missense variant	-	NC_000023.11:g.70552187A>G	gnomAD
TEX11	Q8IYF3	p.Leu838Gln	COSM4923390	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70552178A>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Glu840Ter	COSM1491202	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.70552173C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Tyr844Cys	rs772547120	missense variant	-	NC_000023.11:g.70552160T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Asp847Glu	rs16991177	missense variant	-	NC_000023.11:g.70552150A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala848Gly	rs1452825580	missense variant	-	NC_000023.11:g.70552148G>C	gnomAD
TEX11	Q8IYF3	p.Arg854Leu	rs780146584	missense variant	-	NC_000023.11:g.70552130C>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg854His	rs780146584	missense variant	-	NC_000023.11:g.70552130C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg854Cys	rs753874381	missense variant	-	NC_000023.11:g.70552131G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Asp857Gly	rs1289976436	missense variant	-	NC_000023.11:g.70529995T>C	gnomAD
TEX11	Q8IYF3	p.Asp857Tyr	NCI-TCGA novel	missense variant	-	chrX:g.70529996C>A	NCI-TCGA
TEX11	Q8IYF3	p.Pro859Ala	rs772461116	missense variant	-	NC_000023.11:g.70529990G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile863Thr	NCI-TCGA novel	missense variant	-	chrX:g.70529977A>G	NCI-TCGA
TEX11	Q8IYF3	p.Leu864Ile	COSM172371	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70529975G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Leu866Met	rs1165914544	missense variant	-	NC_000023.11:g.70529969G>T	gnomAD
TEX11	Q8IYF3	p.Thr873Ile	rs768834428	missense variant	-	NC_000023.11:g.70529947G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Val875Ile	NCI-TCGA novel	missense variant	-	chrX:g.70529942C>T	NCI-TCGA
TEX11	Q8IYF3	p.Ser879Gly	rs1484882277	missense variant	-	NC_000023.11:g.70529930T>C	gnomAD
TEX11	Q8IYF3	p.Ser881Gly	rs756250033	missense variant	-	NC_000023.11:g.70529924T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Lys882Thr	NCI-TCGA novel	missense variant	-	chrX:g.70529920T>G	NCI-TCGA
TEX11	Q8IYF3	p.Ala884Val	NCI-TCGA novel	missense variant	-	chrX:g.70529914G>A	NCI-TCGA
TEX11	Q8IYF3	p.Ser885Pro	rs1222993065	missense variant	-	NC_000023.11:g.70529912A>G	gnomAD
TEX11	Q8IYF3	p.Ala886Thr	NCI-TCGA novel	missense variant	-	chrX:g.70529909C>T	NCI-TCGA
TEX11	Q8IYF3	p.Glu887Lys	rs374367768	missense variant	-	NC_000023.11:g.70529906C>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu887Lys	rs374367768	missense variant	-	chrX:g.70529906C>T	NCI-TCGA
TEX11	Q8IYF3	p.Gly891Ser	rs781122355	missense variant	-	NC_000023.11:g.70529894C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Leu892Arg	NCI-TCGA novel	missense variant	-	chrX:g.70529890A>C	NCI-TCGA
TEX11	Q8IYF3	p.Ala893Thr	NCI-TCGA novel	missense variant	-	chrX:g.70529888C>T	NCI-TCGA
TEX11	Q8IYF3	p.Leu894Phe	rs764025236	missense variant	-	NC_000023.11:g.70529883C>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg895His	rs758103906	missense variant	-	NC_000023.11:g.70529881C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg895Gly	rs1385053997	missense variant	-	NC_000023.11:g.70529882G>C	TOPMed
TEX11	Q8IYF3	p.Arg895Cys	NCI-TCGA novel	missense variant	-	chrX:g.70529882G>A	NCI-TCGA
TEX11	Q8IYF3	p.Asn898Lys	rs764836814	missense variant	-	NC_000023.11:g.70529871G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.His899Tyr	rs1259438531	missense variant	-	NC_000023.11:g.70529870G>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr901Asn	rs139092522	missense variant	-	NC_000023.11:g.70529863G>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser906Ile	rs768027475	missense variant	-	NC_000023.11:g.70529848C>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Ser906Asn	COSM457931	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70529848C>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ser906Arg	rs762267271	missense variant	-	NC_000023.11:g.70529847G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Tyr915His	rs1011465821	missense variant	-	NC_000023.11:g.70529175A>G	TOPMed
TEX11	Q8IYF3	p.Tyr915Cys	rs1411971320	missense variant	-	NC_000023.11:g.70529174T>C	gnomAD
TEX11	Q8IYF3	p.Ser916Gly	rs150726887	missense variant	-	NC_000023.11:g.70529172T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu918Phe	rs1382858891	missense variant	-	NC_000023.11:g.70529166G>A	TOPMed
TEX11	Q8IYF3	p.Leu918Ile	COSM289181	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70529166G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Val919Met	rs370371866	missense variant	-	NC_000023.11:g.70529163C>T	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Val919Leu	COSM5431431	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70529163C>A	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Ala921Glu	rs377040267	missense variant	-	NC_000023.11:g.70529156G>T	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Ser923Asn	rs1480104374	missense variant	-	NC_000023.11:g.70529150C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn925Lys	rs1310485179	missense variant	-	NC_000023.11:g.70529143G>C	TOPMed
TEX11	Q8IYF3	p.Gly927Arg	rs200029838	missense variant	-	NC_000023.11:g.70529139C>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Pro928Thr	COSM1124510	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.70529136G>T	NCI-TCGA Cosmic
TEX11	Q8IYF3	p.Val929Gly	NCI-TCGA novel	missense variant	-	chrX:g.70529132A>C	NCI-TCGA
TEX11	Q8IYF3	p.Val929Phe	NCI-TCGA novel	missense variant	-	chrX:g.70529133C>A	NCI-TCGA
TEX11	Q8IYF3	p.His931Gln	rs1183769925	missense variant	-	NC_000023.11:g.70529125A>T	gnomAD
TEX11	Q8IYF3	p.His933Arg	rs374729936	missense variant	-	NC_000023.11:g.70529120T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.His933Leu	rs374729936	missense variant	-	NC_000023.11:g.70529120T>A	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Gly934Ser	rs1324267120	missense variant	-	NC_000023.11:g.70529118C>T	gnomAD
TEX11	Q8IYF3	p.Tyr935Ter	rs763243018	stop gained	-	NC_000023.11:g.70529113G>T	ExAC
TEX11	Q8IYF3	p.Ser937Asn	rs144188602	missense variant	-	NC_000023.11:g.70529108C>T	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Ser3Leu	rs1344192441	missense variant	-	NC_000023.11:g.70897539G>A	TOPMed
TEX11	Q8IYF3	p.His5Tyr	rs1202826814	missense variant	-	NC_000023.11:g.70897534G>A	TOPMed
TEX11	Q8IYF3	p.Cys6Ser	rs1250506630	missense variant	-	NC_000023.11:g.70897531A>T	TOPMed
TEX11	Q8IYF3	p.Cys6Ter	rs186262417	stop gained	-	NC_000023.11:g.70897529G>T	1000Genomes,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn7Ser	rs1037576205	missense variant	-	NC_000023.11:g.70897527T>C	TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg9Cys	rs1320559199	missense variant	-	NC_000023.11:g.70897522G>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Cys12Arg	rs1005238755	missense variant	-	NC_000023.11:g.70897513A>G	TOPMed
TEX11	Q8IYF3	p.Asp15Asn	rs1168374113	missense variant	-	NC_000023.11:g.70897504C>T	TOPMed
TEX11	Q8IYF3	p.Ser16Pro	rs1350790590	missense variant	-	NC_000023.11:g.70897501A>G	TOPMed
TEX11	Q8IYF3	p.Thr27Ala	rs747440106	missense variant	-	NC_000023.11:g.70897468T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val34Ala	rs1234114625	missense variant	-	NC_000023.11:g.70880091A>G	gnomAD
TEX11	Q8IYF3	p.Val34Leu	rs141951098	missense variant	-	NC_000023.11:g.70880092C>G	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr35Arg	rs1334521076	missense variant	-	NC_000023.11:g.70880088G>C	gnomAD
TEX11	Q8IYF3	p.Pro40Ser	rs1291671125	missense variant	-	NC_000023.11:g.70880074G>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile42Leu	rs1179943501	missense variant	-	NC_000023.11:g.70880068T>A	TOPMed
TEX11	Q8IYF3	p.Ala45Val	rs1470073033	missense variant	-	NC_000023.11:g.70880058G>A	TOPMed
TEX11	Q8IYF3	p.Ala45Thr	rs904176751	missense variant	-	NC_000023.11:g.70880059C>T	TOPMed
TEX11	Q8IYF3	p.Arg48Thr	rs1412987331	missense variant	-	NC_000023.11:g.70880049C>G	TOPMed
TEX11	Q8IYF3	p.Ser51Asn	rs1380500294	missense variant	-	NC_000023.11:g.70880040C>T	gnomAD
TEX11	Q8IYF3	p.Asp52Asn	rs1326402590	missense variant	-	NC_000023.11:g.70880038C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile56Ser	rs767439893	missense variant	-	NC_000023.11:g.70880025A>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala62Thr	rs996784363	missense variant	-	NC_000023.11:g.70880008C>T	TOPMed
TEX11	Q8IYF3	p.Ile67Ser	rs751261544	missense variant	-	NC_000023.11:g.70879992A>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile69Val	rs756069493	missense variant	-	NC_000023.11:g.70873307T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Glu71Lys	rs1392057829	missense variant	-	NC_000023.11:g.70873301C>T	gnomAD
TEX11	Q8IYF3	p.Met72Ile	rs1224644533	missense variant	-	NC_000023.11:g.70873296C>T	TOPMed
TEX11	Q8IYF3	p.Trp79Arg	rs372882973	missense variant	-	NC_000023.11:g.70873277A>G	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Glu91Lys	rs763873466	missense variant	-	NC_000023.11:g.70873241C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu92Lys	rs762516688	missense variant	-	NC_000023.11:g.70873238C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.His98Arg	rs746751241	missense variant	-	NC_000023.11:g.70860933T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.His98Asn	rs756997139	missense variant	-	NC_000023.11:g.70860934G>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala110Gly	rs1257803300	missense variant	-	NC_000023.11:g.70860897G>C	TOPMed
TEX11	Q8IYF3	p.Ala113Ser	rs1423488984	missense variant	-	NC_000023.11:g.70860889C>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile118Ser	rs752390103	missense variant	-	NC_000023.11:g.70860873A>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Gln119Glu	rs764706779	missense variant	-	NC_000023.11:g.70860871G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg120Ter	rs1486675411	stop gained	-	NC_000023.11:g.70860868G>A	gnomAD
TEX11	Q8IYF3	p.Ile122Val	rs1281185459	missense variant	-	NC_000023.11:g.70860862T>C	gnomAD
TEX11	Q8IYF3	p.Asn125Tyr	rs1409837902	missense variant	-	NC_000023.11:g.70853325T>A	TOPMed
TEX11	Q8IYF3	p.Met126Val	rs1401602484	missense variant	-	NC_000023.11:g.70853322T>C	gnomAD
TEX11	Q8IYF3	p.Arg127Gly	rs1290827505	missense variant	-	NC_000023.11:g.70853319T>C	TOPMed
TEX11	Q8IYF3	p.Ile128Leu	rs767787700	missense variant	-	NC_000023.11:g.70853316T>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Lys130Arg	rs6525433	missense variant	-	NC_000023.11:g.70853309T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu131Asp	rs1231349120	missense variant	-	NC_000023.11:g.70853305T>A	TOPMed
TEX11	Q8IYF3	p.Glu131Lys	rs1314256178	missense variant	-	NC_000023.11:g.70853307C>T	TOPMed
TEX11	Q8IYF3	p.Asn137Thr	rs746007852	missense variant	-	NC_000023.11:g.70853288T>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile140Met	rs770843069	missense variant	-	NC_000023.11:g.70853278G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala141Thr	rs746940663	missense variant	-	NC_000023.11:g.70853277C>T	ExAC
TEX11	Q8IYF3	p.Glu143Lys	rs777581837	missense variant	-	NC_000023.11:g.70853271C>T	ExAC
TEX11	Q8IYF3	p.Glu143Val	rs1187226342	missense variant	-	NC_000023.11:g.70853270T>A	gnomAD
TEX11	Q8IYF3	p.Gln146Arg	rs191462531	missense variant	-	NC_000023.11:g.70853261T>C	1000Genomes,ExAC,gnomAD
TEX11	Q8IYF3	p.Val149Leu	rs996795407	missense variant	-	NC_000023.11:g.70853253C>A	TOPMed
TEX11	Q8IYF3	p.Tyr156His	rs746945464	missense variant	-	NC_000023.11:g.70853138A>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Val157Ile	rs773083176	missense variant	-	NC_000023.11:g.70853135C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Lys158Asn	rs1294569476	missense variant	-	NC_000023.11:g.70853130T>G	TOPMed
TEX11	Q8IYF3	p.Lys158Gln	rs181134374	missense variant	-	NC_000023.11:g.70853132T>G	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile160Phe	rs897271752	missense variant	-	NC_000023.11:g.70853126T>A	TOPMed
TEX11	Q8IYF3	p.Ser163Arg	rs1468763544	missense variant	-	NC_000023.11:g.70853117T>G	gnomAD
TEX11	Q8IYF3	p.Pro165Ser	rs898803761	missense variant	-	NC_000023.11:g.70853111G>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp168Gly	rs1300917198	missense variant	-	NC_000023.11:g.70853101T>C	TOPMed
TEX11	Q8IYF3	p.Leu169Phe	rs747871574	missense variant	-	NC_000023.11:g.70853097C>G	ExAC,TOPMed
TEX11	Q8IYF3	p.Thr170Ser	rs1444272112	missense variant	-	NC_000023.11:g.70853096T>A	gnomAD
TEX11	Q8IYF3	p.Met171Val	rs143246552	missense variant	-	NC_000023.11:g.70853093T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Met171Val	RCV000173008	missense variant	Spermatogenic failure, X-linked, 2 (SPGFX2)	NC_000023.11:g.70853093T>C	ClinVar
TEX11	Q8IYF3	p.Glu172Asp	rs1295740489	missense variant	-	NC_000023.11:g.70853088C>A	gnomAD
TEX11	Q8IYF3	p.Thr175Ala	rs1341488009	missense variant	-	NC_000023.11:g.70853081T>C	TOPMed
TEX11	Q8IYF3	p.Glu177Lys	rs1365016323	missense variant	-	NC_000023.11:g.70853075C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser178Asn	rs1296061122	missense variant	-	NC_000023.11:g.70853071C>T	gnomAD
TEX11	Q8IYF3	p.Ser178Gly	rs1247146060	missense variant	-	NC_000023.11:g.70853072T>C	TOPMed
TEX11	Q8IYF3	p.Asp179Asn	rs779587803	missense variant	-	NC_000023.11:g.70853069C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.His180Leu	rs1489381711	missense variant	-	NC_000023.11:g.70853065T>A	TOPMed
TEX11	Q8IYF3	p.Val183Met	rs375000923	missense variant	-	NC_000023.11:g.70853057C>T	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Ala193Thr	rs1298977936	missense variant	-	NC_000023.11:g.70833587C>T	gnomAD
TEX11	Q8IYF3	p.Gln194Arg	rs779629000	missense variant	-	NC_000023.11:g.70833583T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp196Asn	rs149131292	missense variant	-	NC_000023.11:g.70833578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Gln198Arg	rs1175408403	missense variant	-	NC_000023.11:g.70833571T>C	gnomAD
TEX11	Q8IYF3	p.Ser201Phe	rs1341513691	missense variant	-	NC_000023.11:g.70833562G>A	TOPMed
TEX11	Q8IYF3	p.Met202Thr	rs370291538	missense variant	-	NC_000023.11:g.70833559A>G	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Met202Ile	rs1450617584	missense variant	-	NC_000023.11:g.70833558C>T	TOPMed
TEX11	Q8IYF3	p.Asp209Asn	rs1414528872	missense variant	-	NC_000023.11:g.70833539C>T	gnomAD
TEX11	Q8IYF3	p.Met210Thr	rs1196396837	missense variant	-	NC_000023.11:g.70833535A>G	gnomAD
TEX11	Q8IYF3	p.Met212Thr	rs1420664018	missense variant	-	NC_000023.11:g.70833529A>G	gnomAD
TEX11	Q8IYF3	p.His222Tyr	rs1455114798	missense variant	-	NC_000023.11:g.70806778G>A	gnomAD
TEX11	Q8IYF3	p.Asn236Asp	rs768423064	missense variant	-	NC_000023.11:g.70806736T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Tyr238Cys	rs149967739	missense variant	-	NC_000023.11:g.70806729T>C	ESP,gnomAD
TEX11	Q8IYF3	p.Ser242Tyr	rs775355719	missense variant	-	NC_000023.11:g.70806717G>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Gln247Lys	rs1233129234	missense variant	-	NC_000023.11:g.70744218G>T	gnomAD
TEX11	Q8IYF3	p.Tyr249Phe	rs762509635	missense variant	-	NC_000023.11:g.70744211T>A	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp250Val	rs1249191150	missense variant	-	NC_000023.11:g.70744208T>A	gnomAD
TEX11	Q8IYF3	p.Asp250His	rs1352574436	missense variant	-	NC_000023.11:g.70744209C>G	TOPMed
TEX11	Q8IYF3	p.Ile251Phe	rs767565935	missense variant	-	NC_000023.11:g.70744206T>A	ExAC,TOPMed
TEX11	Q8IYF3	p.Met254Ile	rs1294101701	missense variant	-	NC_000023.11:g.70744195C>T	TOPMed
TEX11	Q8IYF3	p.Asp255Asn	rs757383142	missense variant	-	NC_000023.11:g.70744194C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Asp255Gly	rs751491935	missense variant	-	NC_000023.11:g.70744193T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Thr259Ser	rs376793868	missense variant	-	NC_000023.11:g.70744182T>A	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Thr259Ile	rs762957753	missense variant	-	NC_000023.11:g.70744181G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr259Ala	rs376793868	missense variant	-	NC_000023.11:g.70744182T>C	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Gly260Arg	rs1236503664	missense variant	-	NC_000023.11:g.70744179C>T	TOPMed
TEX11	Q8IYF3	p.Pro261Ser	rs775098071	missense variant	-	NC_000023.11:g.70744176G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Lys266Asn	rs1283604357	missense variant	-	NC_000023.11:g.70740791T>A	TOPMed
TEX11	Q8IYF3	p.Arg269Trp	rs756553436	missense variant	-	NC_000023.11:g.70740784G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg269Gln	rs1164466971	missense variant	-	NC_000023.11:g.70740783C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr273Met	rs781457497	missense variant	-	NC_000023.11:g.70740771G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn274Ser	rs370599644	missense variant	-	NC_000023.11:g.70740768T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Tyr275Cys	rs764252789	missense variant	-	NC_000023.11:g.70740765T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Thr281Ala	rs996232982	missense variant	-	NC_000023.11:g.70740748T>C	gnomAD
TEX11	Q8IYF3	p.Tyr284Cys	rs1479630994	missense variant	-	NC_000023.11:g.70740738T>C	gnomAD
TEX11	Q8IYF3	p.Asp285Asn	rs776556073	missense variant	-	NC_000023.11:g.70740736C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp285Tyr	rs776556073	missense variant	-	NC_000023.11:g.70740736C>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu288Phe	rs1453413711	missense variant	-	NC_000023.11:g.70740727G>A	TOPMed
TEX11	Q8IYF3	p.Asn289Ser	rs375896248	missense variant	-	NC_000023.11:g.70740723T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu297Lys	rs372375453	missense variant	-	NC_000023.11:g.70725343C>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.His298Tyr	rs368140818	missense variant	-	NC_000023.11:g.70725340G>A	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu311Phe	rs1442546702	missense variant	-	NC_000023.11:g.70725301G>A	gnomAD
TEX11	Q8IYF3	p.Gly314Ser	rs747262390	missense variant	-	NC_000023.11:g.70725292C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu315Lys	rs575754903	missense variant	-	NC_000023.11:g.70725289C>T	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser317Cys	rs778845628	missense variant	-	NC_000023.11:g.70725282G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Glu319Lys	rs1312102683	missense variant	-	NC_000023.11:g.70725277C>T	TOPMed
TEX11	Q8IYF3	p.Glu320Asp	rs1414225026	missense variant	-	NC_000023.11:g.70725272T>A	gnomAD
TEX11	Q8IYF3	p.Glu323Asp	rs1014233938	missense variant	-	NC_000023.11:g.70725263T>G	TOPMed,gnomAD
TEX11	Q8IYF3	p.Val325Ala	rs914609885	missense variant	-	NC_000023.11:g.70722693A>G	TOPMed
TEX11	Q8IYF3	p.Met326Val	rs1263202185	missense variant	-	NC_000023.11:g.70722691T>C	TOPMed
TEX11	Q8IYF3	p.Leu331Arg	rs1478507641	missense variant	-	NC_000023.11:g.70722675A>C	TOPMed
TEX11	Q8IYF3	p.Asp332Val	rs1157252761	missense variant	-	NC_000023.11:g.70722672T>A	gnomAD
TEX11	Q8IYF3	p.Met333Val	rs1325231564	missense variant	-	NC_000023.11:g.70722670T>C	gnomAD
TEX11	Q8IYF3	p.Asp336Gly	rs1476208283	missense variant	-	NC_000023.11:g.70722660T>C	gnomAD
TEX11	Q8IYF3	p.Asn340Lys	rs374217762	missense variant	-	NC_000023.11:g.70722647G>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile341Val	rs1471807161	missense variant	-	NC_000023.11:g.70722646T>C	gnomAD
TEX11	Q8IYF3	p.Ala342Val	rs1391048608	missense variant	-	NC_000023.11:g.70722642G>A	gnomAD
TEX11	Q8IYF3	p.Glu351Gly	rs1164088818	missense variant	-	NC_000023.11:g.70682823T>C	gnomAD
TEX11	Q8IYF3	p.Phe355Ser	rs1056191384	missense variant	-	NC_000023.11:g.70682811A>G	TOPMed
TEX11	Q8IYF3	p.Thr359Met	rs760003842	missense variant	-	NC_000023.11:g.70682799G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.His362Asn	rs761167331	missense variant	-	NC_000023.11:g.70682791G>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg364Gly	rs773463882	missense variant	-	NC_000023.11:g.70682785G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg364Cys	rs773463882	missense variant	-	NC_000023.11:g.70682785G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg364His	rs201471690	missense variant	-	NC_000023.11:g.70682784C>T	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Phe365Cys	rs1344575473	missense variant	-	NC_000023.11:g.70682781A>C	TOPMed
TEX11	Q8IYF3	p.Lys366Thr	rs1488563150	missense variant	-	NC_000023.11:g.70682778T>G	gnomAD
TEX11	Q8IYF3	p.Lys366Gln	rs748351059	missense variant	-	NC_000023.11:g.70682779T>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Ser368Leu	rs774542802	missense variant	-	NC_000023.11:g.70682772G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile371Leu	rs1277438610	missense variant	-	NC_000023.11:g.70682764T>G	gnomAD
TEX11	Q8IYF3	p.Ile371Thr	rs977597709	missense variant	-	NC_000023.11:g.70682763A>G	gnomAD
TEX11	Q8IYF3	p.Ile371Asn	rs977597709	missense variant	-	NC_000023.11:g.70682763A>T	gnomAD
TEX11	Q8IYF3	p.Asp380Gly	rs1388885484	missense variant	-	NC_000023.11:g.70682736T>C	gnomAD
TEX11	Q8IYF3	p.Met381Val	rs749226768	missense variant	-	NC_000023.11:g.70682734T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Leu390Ile	rs1372440853	missense variant	-	NC_000023.11:g.70682707G>T	gnomAD
TEX11	Q8IYF3	p.Leu390Pro	rs1169164404	missense variant	-	NC_000023.11:g.70682706A>G	gnomAD
TEX11	Q8IYF3	p.Glu396Lys	rs756129568	missense variant	-	NC_000023.11:g.70682689C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile398Thr	rs1175350982	missense variant	-	NC_000023.11:g.70682682A>G	TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu400Ser	rs1433539772	missense variant	-	NC_000023.11:g.70682676A>G	gnomAD
TEX11	Q8IYF3	p.Gln403Leu	rs150528179	missense variant	-	NC_000023.11:g.70678883T>A	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Gln403Arg	rs150528179	missense variant	-	NC_000023.11:g.70678883T>C	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Gly405Glu	rs1316679274	missense variant	-	NC_000023.11:g.70678877C>T	gnomAD
TEX11	Q8IYF3	p.Glu411Asp	rs768856343	missense variant	-	NC_000023.11:g.70678858T>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Trp415Cys	rs775722432	missense variant	-	NC_000023.11:g.70678846C>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu416Phe	rs1192348306	missense variant	-	NC_000023.11:g.70678843T>G	TOPMed
TEX11	Q8IYF3	p.His417Gln	rs769718746	missense variant	-	NC_000023.11:g.70678840G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu420Val	rs745821043	missense variant	-	NC_000023.11:g.70678833G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala425Thr	rs1392568993	missense variant	-	NC_000023.11:g.70678818C>T	TOPMed
TEX11	Q8IYF3	p.Ser426Arg	rs746657583	missense variant	-	NC_000023.11:g.70678813A>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser427Asn	rs1016690543	missense variant	-	NC_000023.11:g.70678811C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr434Ser	rs1269049143	missense variant	-	NC_000023.11:g.70670501G>C	gnomAD
TEX11	Q8IYF3	p.Asp435Ala	rs775667438	missense variant	-	NC_000023.11:g.70670498T>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala436Thr	rs1234421331	missense variant	-	NC_000023.11:g.70670496C>T	TOPMed
TEX11	Q8IYF3	p.Tyr441Cys	rs759491904	missense variant	-	NC_000023.11:g.70670480T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr449Ile	rs746739636	missense variant	-	NC_000023.11:g.70670456G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Thr449Ala	rs199871594	missense variant	-	NC_000023.11:g.70670457T>C	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp450Glu	rs1365611506	missense variant	-	NC_000023.11:g.70670452A>C	gnomAD
TEX11	Q8IYF3	p.Glu451Lys	rs4844247	missense variant	-	NC_000023.11:g.70670451C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Phe456Leu	rs1392265395	missense variant	-	NC_000023.11:g.70670436A>G	gnomAD
TEX11	Q8IYF3	p.Thr457Ser	rs747838848	missense variant	-	NC_000023.11:g.70670432G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Cys465Gly	rs1456954813	missense variant	-	NC_000023.11:g.70670409A>C	gnomAD
TEX11	Q8IYF3	p.Leu473Val	rs941159712	missense variant	-	NC_000023.11:g.70670385G>C	gnomAD
TEX11	Q8IYF3	p.Val480Met	rs1323780348	missense variant	-	NC_000023.11:g.70651540C>T	gnomAD
TEX11	Q8IYF3	p.Arg485Gln	rs1385768042	missense variant	-	NC_000023.11:g.70651524C>T	gnomAD
TEX11	Q8IYF3	p.Asp487Asn	rs759598658	missense variant	-	NC_000023.11:g.70651519C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg489Lys	rs770715653	missense variant	-	NC_000023.11:g.70651512C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg489Thr	rs770715653	missense variant	-	NC_000023.11:g.70651512C>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg489Gly	rs1210524250	missense variant	-	NC_000023.11:g.70651513T>C	TOPMed
TEX11	Q8IYF3	p.Asn490Ser	rs760637499	missense variant	-	NC_000023.11:g.70651509T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Val491Ile	rs772959829	missense variant	-	NC_000023.11:g.70651507C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Phe492Cys	rs771905076	missense variant	-	NC_000023.11:g.70651503A>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile497Val	rs144438018	missense variant	-	NC_000023.11:g.70651489T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ile497Arg	rs1266790102	missense variant	-	NC_000023.11:g.70651488A>C	gnomAD
TEX11	Q8IYF3	p.Ile497Met	rs1207215808	missense variant	-	NC_000023.11:g.70651487T>C	gnomAD
TEX11	Q8IYF3	p.Ile503Thr	rs778499884	missense variant	-	NC_000023.11:g.70651470A>G	ExAC
TEX11	Q8IYF3	p.Ile503Val	rs1263475450	missense variant	-	NC_000023.11:g.70651471T>C	TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu504Gln	rs1483378881	missense variant	-	NC_000023.11:g.70651468C>G	gnomAD
TEX11	Q8IYF3	p.Asn506Lys	rs144149425	missense variant	-	NC_000023.11:g.70651460G>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn506Lys	rs144149425	missense variant	-	NC_000023.11:g.70651460G>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser507Pro	rs1225961297	missense variant	-	NC_000023.11:g.70651459A>G	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser507Cys	rs748692382	missense variant	-	NC_000023.11:g.70651458G>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser507Tyr	rs748692382	missense variant	-	NC_000023.11:g.70651458G>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser507Thr	rs1225961297	missense variant	-	NC_000023.11:g.70651459A>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu508Lys	rs779642423	missense variant	-	NC_000023.11:g.70651456C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Ala513Thr	rs768148480	missense variant	-	NC_000023.11:g.70629727C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Thr516Ala	rs748997672	missense variant	-	NC_000023.11:g.70629718T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Thr516Ile	rs760892950	missense variant	-	NC_000023.11:g.70629717G>A	1000Genomes,ExAC,gnomAD
TEX11	Q8IYF3	p.Leu517Val	rs1351844566	missense variant	-	NC_000023.11:g.70629715A>C	TOPMed
TEX11	Q8IYF3	p.Asn519His	rs1278948309	missense variant	-	NC_000023.11:g.70629709T>G	TOPMed
TEX11	Q8IYF3	p.Asn519Thr	rs147097227	missense variant	-	NC_000023.11:g.70629708T>G	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp523His	rs1335352653	missense variant	-	NC_000023.11:g.70629697C>G	gnomAD
TEX11	Q8IYF3	p.Ser526Pro	rs1220744701	missense variant	-	NC_000023.11:g.70629688A>G	TOPMed
TEX11	Q8IYF3	p.Glu527Gly	rs778488744	missense variant	-	NC_000023.11:g.70629684T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu527Val	rs778488744	missense variant	-	NC_000023.11:g.70629684T>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp528Gly	rs748403753	missense variant	-	NC_000023.11:g.70629681T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Glu534Lys	rs1175422491	missense variant	-	NC_000023.11:g.70629664C>T	gnomAD
TEX11	Q8IYF3	p.Leu544Ser	rs755124384	missense variant	-	NC_000023.11:g.70629633A>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Gln555Lys	rs749468065	missense variant	-	NC_000023.11:g.70624915G>T	ExAC
TEX11	Q8IYF3	p.Thr577Ile	rs756344129	missense variant	-	NC_000023.11:g.70624848G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Val579Ile	rs1249602743	missense variant	-	NC_000023.11:g.70624843C>T	gnomAD
TEX11	Q8IYF3	p.Leu583Val	rs1438744662	missense variant	-	NC_000023.11:g.70623999G>C	TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg584Ser	rs867999229	missense variant	-	NC_000023.11:g.70623996G>T	TOPMed
TEX11	Q8IYF3	p.Arg584His	rs1350493086	missense variant	-	NC_000023.11:g.70623995C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg584Cys	rs867999229	missense variant	-	NC_000023.11:g.70623996G>A	TOPMed
TEX11	Q8IYF3	p.Leu587Ile	rs759282918	missense variant	-	NC_000023.11:g.70623987G>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Pro588Leu	rs1422599964	missense variant	-	NC_000023.11:g.70623983G>A	gnomAD
TEX11	Q8IYF3	p.Met593Ile	rs776240375	missense variant	-	NC_000023.11:g.70623967C>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Pro594Leu	rs770614604	missense variant	-	NC_000023.11:g.70623965G>A	ExAC
TEX11	Q8IYF3	p.Glu597Lys	rs1448619578	missense variant	-	NC_000023.11:g.70623957C>T	gnomAD
TEX11	Q8IYF3	p.Met603Val	rs367895713	missense variant	-	NC_000023.11:g.70610533T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp604Asn	rs753602584	missense variant	-	NC_000023.11:g.70610530C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Cys609Tyr	rs200375710	missense variant	-	NC_000023.11:g.70610514C>T	1000Genomes,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg612Ser	rs769159981	missense variant	-	NC_000023.11:g.70610504T>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val615Leu	rs748136631	missense variant	-	NC_000023.11:g.70609172C>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Val615Ala	rs899490660	missense variant	-	NC_000023.11:g.70609171A>G	TOPMed
TEX11	Q8IYF3	p.Leu617Phe	rs1458382171	missense variant	-	NC_000023.11:g.70609166G>A	gnomAD
TEX11	Q8IYF3	p.Pro620Arg	rs139166251	missense variant	-	NC_000023.11:g.70609156G>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Pro620Ala	rs1356655384	missense variant	-	NC_000023.11:g.70609157G>C	TOPMed
TEX11	Q8IYF3	p.Glu624Lys	rs754888467	missense variant	-	NC_000023.11:g.70609145C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala625Gly	rs1419073971	missense variant	-	NC_000023.11:g.70609141G>C	gnomAD
TEX11	Q8IYF3	p.Leu626Ser	rs753691449	missense variant	-	NC_000023.11:g.70609138A>G	ExAC
TEX11	Q8IYF3	p.Glu629Gln	rs766000467	missense variant	-	NC_000023.11:g.70609130C>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn633Lys	rs1483764414	missense variant	-	NC_000023.11:g.70609116A>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Trp637Arg	rs368829218	missense variant	-	NC_000023.11:g.70609106A>G	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr641Ser	rs1184455196	missense variant	-	NC_000023.11:g.70609094T>A	TOPMed
TEX11	Q8IYF3	p.Ala642Thr	rs1410393922	missense variant	-	NC_000023.11:g.70609091C>T	gnomAD
TEX11	Q8IYF3	p.Leu645Phe	rs1298337752	missense variant	-	NC_000023.11:g.70607019C>A	TOPMed
TEX11	Q8IYF3	p.Ile661Thr	rs754977606	missense variant	-	NC_000023.11:g.70606972A>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Met666Val	rs1484944012	missense variant	-	NC_000023.11:g.70605517T>C	TOPMed
TEX11	Q8IYF3	p.Met666Ile	rs769530525	missense variant	-	NC_000023.11:g.70605515C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Ser672Ala	rs1210879579	missense variant	-	NC_000023.11:g.70605499A>C	TOPMed
TEX11	Q8IYF3	p.Leu677Arg	rs756919847	missense variant	-	NC_000023.11:g.70605483A>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Leu677Pro	rs756919847	missense variant	-	NC_000023.11:g.70605483A>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile678Thr	rs1473803724	missense variant	-	NC_000023.11:g.70605480A>G	TOPMed
TEX11	Q8IYF3	p.Arg680Gln	rs202064716	missense variant	-	NC_000023.11:g.70605474C>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Lys681Glu	rs1406736013	missense variant	-	NC_000023.11:g.70605472T>C	TOPMed
TEX11	Q8IYF3	p.Leu685Phe	rs777298782	missense variant	-	NC_000023.11:g.70605460G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Val688Gly	rs755448482	missense variant	-	NC_000023.11:g.70605450A>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ala689Thr	rs1421446151	missense variant	-	NC_000023.11:g.70605448C>T	gnomAD
TEX11	Q8IYF3	p.Ala698Thr	rs140984555	missense variant	-	NC_000023.11:g.70605421C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala698Thr	RCV000173009	missense variant	Spermatogenic failure, X-linked, 2 (SPGFX2)	NC_000023.11:g.70605421C>T	ClinVar
TEX11	Q8IYF3	p.Glu703Val	rs750813136	missense variant	-	NC_000023.11:g.70605405T>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg710Cys	rs757962095	missense variant	-	NC_000023.11:g.70591808G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile715Thr	rs1412151866	missense variant	-	NC_000023.11:g.70591792A>G	gnomAD
TEX11	Q8IYF3	p.Thr717Ala	rs1336871415	missense variant	-	NC_000023.11:g.70591787T>C	TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn719Ser	rs1408551678	missense variant	-	NC_000023.11:g.70591780T>C	gnomAD
TEX11	Q8IYF3	p.Asp720Val	rs1404671794	missense variant	-	NC_000023.11:g.70591777T>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.His722Arg	rs756666108	missense variant	-	NC_000023.11:g.70591771T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Gln727His	rs373821400	missense variant	-	NC_000023.11:g.70591755T>G	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser732Leu	rs376047420	missense variant	-	NC_000023.11:g.70554791G>A	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp734Tyr	rs1337652466	missense variant	-	NC_000023.11:g.70554786C>A	gnomAD
TEX11	Q8IYF3	p.Cys736Arg	rs1160423060	missense variant	-	NC_000023.11:g.70554780A>G	gnomAD
TEX11	Q8IYF3	p.Leu740Phe	rs771769122	missense variant	-	NC_000023.11:g.70554768G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Val747Ile	rs151048734	missense variant	-	NC_000023.11:g.70554747C>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val763Ala	rs200139216	missense variant	-	NC_000023.11:g.70554698A>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val763Leu	rs143644139	missense variant	-	NC_000023.11:g.70554699C>A	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu765Gly	rs1249479557	missense variant	-	NC_000023.11:g.70554692T>C	gnomAD
TEX11	Q8IYF3	p.Thr771Ala	rs757760270	missense variant	-	NC_000023.11:g.70554675T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile779Thr	rs1282035365	missense variant	-	NC_000023.11:g.70553414A>G	TOPMed
TEX11	Q8IYF3	p.Ile779Val	rs1433357782	missense variant	-	NC_000023.11:g.70554651T>C	TOPMed
TEX11	Q8IYF3	p.Met782Thr	rs1485266259	missense variant	-	NC_000023.11:g.70553405A>G	gnomAD
TEX11	Q8IYF3	p.Glu783Asp	rs1239794640	missense variant	-	NC_000023.11:g.70553401T>G	gnomAD
TEX11	Q8IYF3	p.Ala786Val	rs1205572216	missense variant	-	NC_000023.11:g.70553393G>A	gnomAD
TEX11	Q8IYF3	p.Tyr788Cys	rs760404246	missense variant	-	NC_000023.11:g.70553387T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Pro789Thr	rs771582546	missense variant	-	NC_000023.11:g.70553385G>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Ala792Val	rs1298024192	missense variant	-	NC_000023.11:g.70553375G>A	gnomAD
TEX11	Q8IYF3	p.Leu793Phe	rs747873016	missense variant	-	NC_000023.11:g.70553373G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Leu802Phe	rs768268510	missense variant	-	NC_000023.11:g.70553346G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Lys804Arg	rs1302431284	missense variant	-	NC_000023.11:g.70553339T>C	gnomAD
TEX11	Q8IYF3	p.Lys805Met	rs1338579232	missense variant	-	NC_000023.11:g.70553336T>A	TOPMed
TEX11	Q8IYF3	p.Glu807Asp	rs1210179902	missense variant	-	NC_000023.11:g.70553329T>A	TOPMed
TEX11	Q8IYF3	p.Pro808Gln	rs1422541197	missense variant	-	NC_000023.11:g.70553327G>T	gnomAD
TEX11	Q8IYF3	p.Ile811Thr	rs1290920334	missense variant	-	NC_000023.11:g.70553318A>G	TOPMed
TEX11	Q8IYF3	p.Ile811Leu	rs781735348	missense variant	-	NC_000023.11:g.70553319T>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile811Val	rs781735348	missense variant	-	NC_000023.11:g.70553319T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ile811Leu	rs781735348	missense variant	-	NC_000023.11:g.70553319T>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Gln813Arg	rs202136447	missense variant	-	NC_000023.11:g.70553312T>C	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Gln813Lys	rs143397565	missense variant	-	NC_000023.11:g.70553313G>T	ESP,ExAC,TOPMed
TEX11	Q8IYF3	p.Ser815Arg	rs201040035	missense variant	-	NC_000023.11:g.70553307T>G	1000Genomes,ExAC
TEX11	Q8IYF3	p.Asn820Asp	rs140957385	missense variant	-	NC_000023.11:g.70552233T>C	ESP,TOPMed,gnomAD
TEX11	Q8IYF3	p.Val822Leu	rs761355754	missense variant	-	NC_000023.11:g.70552227C>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Val822Ile	rs761355754	missense variant	-	NC_000023.11:g.70552227C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Asn823His	rs1469887273	missense variant	-	NC_000023.11:g.70552224T>G	gnomAD
TEX11	Q8IYF3	p.Leu824Phe	rs1427917315	missense variant	-	NC_000023.11:g.70552221G>A	gnomAD
TEX11	Q8IYF3	p.Ala830Ser	rs1253261339	missense variant	-	NC_000023.11:g.70552203C>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala830Val	rs774117470	missense variant	-	NC_000023.11:g.70552202G>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala830Thr	rs1253261339	missense variant	-	NC_000023.11:g.70552203C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser831Leu	rs762490798	missense variant	-	NC_000023.11:g.70552199G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Asn832Ser	rs1324379138	missense variant	-	NC_000023.11:g.70552196T>C	gnomAD
TEX11	Q8IYF3	p.Val833Ile	rs747562165	missense variant	-	NC_000023.11:g.70552194C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Glu834Gln	rs371524119	missense variant	-	NC_000023.11:g.70552191C>G	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Leu835Pro	rs1390635635	missense variant	-	NC_000023.11:g.70552187A>G	gnomAD
TEX11	Q8IYF3	p.Tyr844Cys	rs772547120	missense variant	-	NC_000023.11:g.70552160T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Asp847Glu	rs16991177	missense variant	-	NC_000023.11:g.70552150A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ala848Gly	rs1452825580	missense variant	-	NC_000023.11:g.70552148G>C	gnomAD
TEX11	Q8IYF3	p.Arg854Cys	rs753874381	missense variant	-	NC_000023.11:g.70552131G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg854His	rs780146584	missense variant	-	NC_000023.11:g.70552130C>T	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Arg854Leu	rs780146584	missense variant	-	NC_000023.11:g.70552130C>A	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Asp857Gly	rs1289976436	missense variant	-	NC_000023.11:g.70529995T>C	gnomAD
TEX11	Q8IYF3	p.Pro859Ala	rs772461116	missense variant	-	NC_000023.11:g.70529990G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Leu866Met	rs1165914544	missense variant	-	NC_000023.11:g.70529969G>T	gnomAD
TEX11	Q8IYF3	p.Thr873Ile	rs768834428	missense variant	-	NC_000023.11:g.70529947G>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Ser879Gly	rs1484882277	missense variant	-	NC_000023.11:g.70529930T>C	gnomAD
TEX11	Q8IYF3	p.Ser881Gly	rs756250033	missense variant	-	NC_000023.11:g.70529924T>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ser885Pro	rs1222993065	missense variant	-	NC_000023.11:g.70529912A>G	gnomAD
TEX11	Q8IYF3	p.Glu887Lys	rs374367768	missense variant	-	NC_000023.11:g.70529906C>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Gly891Ser	rs781122355	missense variant	-	NC_000023.11:g.70529894C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Leu894Phe	rs764025236	missense variant	-	NC_000023.11:g.70529883C>G	ExAC,gnomAD
TEX11	Q8IYF3	p.Arg895Gly	rs1385053997	missense variant	-	NC_000023.11:g.70529882G>C	TOPMed
TEX11	Q8IYF3	p.Arg895His	rs758103906	missense variant	-	NC_000023.11:g.70529881C>T	ExAC,gnomAD
TEX11	Q8IYF3	p.Asn898Lys	rs764836814	missense variant	-	NC_000023.11:g.70529871G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.His899Tyr	rs1259438531	missense variant	-	NC_000023.11:g.70529870G>A	TOPMed,gnomAD
TEX11	Q8IYF3	p.Thr901Asn	rs139092522	missense variant	-	NC_000023.11:g.70529863G>T	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Ser906Arg	rs762267271	missense variant	-	NC_000023.11:g.70529847G>C	ExAC,gnomAD
TEX11	Q8IYF3	p.Ser906Ile	rs768027475	missense variant	-	NC_000023.11:g.70529848C>A	ExAC,gnomAD
TEX11	Q8IYF3	p.Tyr915His	rs1011465821	missense variant	-	NC_000023.11:g.70529175A>G	TOPMed
TEX11	Q8IYF3	p.Tyr915Cys	rs1411971320	missense variant	-	NC_000023.11:g.70529174T>C	gnomAD
TEX11	Q8IYF3	p.Ser916Gly	rs150726887	missense variant	-	NC_000023.11:g.70529172T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Leu918Phe	rs1382858891	missense variant	-	NC_000023.11:g.70529166G>A	TOPMed
TEX11	Q8IYF3	p.Val919Met	rs370371866	missense variant	-	NC_000023.11:g.70529163C>T	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Ala921Glu	rs377040267	missense variant	-	NC_000023.11:g.70529156G>T	ESP,ExAC,gnomAD
TEX11	Q8IYF3	p.Ser923Asn	rs1480104374	missense variant	-	NC_000023.11:g.70529150C>T	TOPMed,gnomAD
TEX11	Q8IYF3	p.Asn925Lys	rs1310485179	missense variant	-	NC_000023.11:g.70529143G>C	TOPMed
TEX11	Q8IYF3	p.Gly927Arg	rs200029838	missense variant	-	NC_000023.11:g.70529139C>G	ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.His931Gln	rs1183769925	missense variant	-	NC_000023.11:g.70529125A>T	gnomAD
TEX11	Q8IYF3	p.His933Arg	rs374729936	missense variant	-	NC_000023.11:g.70529120T>C	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.His933Leu	rs374729936	missense variant	-	NC_000023.11:g.70529120T>A	ESP,ExAC,TOPMed,gnomAD
TEX11	Q8IYF3	p.Gly934Ser	rs1324267120	missense variant	-	NC_000023.11:g.70529118C>T	gnomAD
TEX11	Q8IYF3	p.Tyr935Ter	rs763243018	stop gained	-	NC_000023.11:g.70529113G>T	ExAC
TEX11	Q8IYF3	p.Ser937Asn	rs144188602	missense variant	-	NC_000023.11:g.70529108C>T	ESP,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln2His	rs746721389	missense variant	-	NC_000003.12:g.138103966C>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln2Ter	rs768328003	stop gained	-	NC_000003.12:g.138103968G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln2His	rs746721389	missense variant	-	NC_000003.12:g.138103966C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser3Phe	rs771502185	missense variant	-	NC_000003.12:g.138103964G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser3Tyr	rs771502185	missense variant	-	NC_000003.12:g.138103964G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala5Thr	rs745393759	missense variant	-	NC_000003.12:g.138103959C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala6Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138103956C>T	NCI-TCGA
DZIP1L	Q8IYY4	p.Ser12Arg	rs146109164	missense variant	-	NC_000003.12:g.138103938T>G	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser12Gly	rs146109164	missense variant	-	NC_000003.12:g.138103938T>C	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser12Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138103937C>T	NCI-TCGA
DZIP1L	Q8IYY4	p.Gly13Val	rs375457172	missense variant	-	NC_000003.12:g.138103934C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly13Asp	rs375457172	missense variant	-	NC_000003.12:g.138103934C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly13Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138103935C>T	NCI-TCGA
DZIP1L	Q8IYY4	p.Pro14Leu	COSM3587932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103931G>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gly17Glu	COSM1419415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103922C>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ala18Val	rs1166092949	missense variant	-	NC_000003.12:g.138103919G>A	gnomAD
DZIP1L	Q8IYY4	p.Tyr19Cys	rs766725279	missense variant	-	NC_000003.12:g.138103916T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Tyr19His	rs751768041	missense variant	-	NC_000003.12:g.138103917A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Thr20Met	rs200970340	missense variant	-	NC_000003.12:g.138103913G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro22Leu	rs375898856	missense variant	-	NC_000003.12:g.138103907G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr23Ala	rs776470429	missense variant	-	NC_000003.12:g.138103905T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys25Arg	rs544148897	missense variant	-	NC_000003.12:g.138103898T>C	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys25Ter	rs1323244987	stop gained	-	NC_000003.12:g.138103899T>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys25Thr	COSM4113919	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103898T>G	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Arg29Cys	rs987675067	missense variant	-	NC_000003.12:g.138103887G>A	gnomAD
DZIP1L	Q8IYY4	p.Arg29His	rs775064400	missense variant	-	NC_000003.12:g.138103886C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.His30Leu	rs745353973	missense variant	-	NC_000003.12:g.138103883T>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.His30Tyr	rs771733113	missense variant	-	NC_000003.12:g.138103884G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.His30Arg	rs745353973	missense variant	-	NC_000003.12:g.138103883T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser32Asn	rs748671549	missense variant	-	NC_000003.12:g.138103877C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser32Gly	rs778338143	missense variant	-	NC_000003.12:g.138103878T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser32Thr	rs748671549	missense variant	-	NC_000003.12:g.138103877C>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Met33Ile	rs371320965	missense variant	-	NC_000003.12:g.138103873C>T	ESP,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Asp34Val	rs1489553276	missense variant	-	NC_000003.12:g.138103871T>A	TOPMed
DZIP1L	Q8IYY4	p.Arg36Ser	rs755341125	missense variant	-	NC_000003.12:g.138103864T>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg37Leu	rs758730826	missense variant	-	NC_000003.12:g.138103862C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg37Cys	rs139394665	missense variant	-	NC_000003.12:g.138103863G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg37His	rs758730826	missense variant	-	NC_000003.12:g.138103862C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ile38Val	rs1237460517	missense variant	-	NC_000003.12:g.138103860T>C	gnomAD
DZIP1L	Q8IYY4	p.Ser39Arg	COSM4113915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103857T>G	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ser39Asn	rs149176280	missense variant	-	NC_000003.12:g.138103856C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr40Pro	rs753650054	missense variant	-	NC_000003.12:g.138103854T>G	ExAC
DZIP1L	Q8IYY4	p.Asp42Gly	rs764030474	missense variant	-	NC_000003.12:g.138103847T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val43Ile	rs958102181	missense variant	-	NC_000003.12:g.138103845C>T	TOPMed
DZIP1L	Q8IYY4	p.Asp44Asn	rs760410672	missense variant	-	NC_000003.12:g.138103842C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg45Cys	rs188293055	missense variant	-	NC_000003.12:g.138103839G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg45His	rs759170608	missense variant	-	NC_000003.12:g.138103838C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val46Met	rs770284499	missense variant	-	NC_000003.12:g.138103836C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala47Ser	rs1366114210	missense variant	-	NC_000003.12:g.138103833C>A	gnomAD
DZIP1L	Q8IYY4	p.Arg48Gln	rs370424959	missense variant	-	NC_000003.12:g.138103829C>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg48Trp	rs374088265	missense variant	-	NC_000003.12:g.138103830G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu50Pro	rs747343805	missense variant	-	NC_000003.12:g.138103823A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Asp51Asn	rs780612273	missense variant	-	NC_000003.12:g.138103821C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val52Leu	rs758629116	missense variant	-	NC_000003.12:g.138103818C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val52Met	rs758629116	missense variant	-	NC_000003.12:g.138103818C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val52Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138103817A>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Ala53Thr	rs1434833275	missense variant	-	NC_000003.12:g.138103815C>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala53Val	rs746139719	missense variant	-	NC_000003.12:g.138103814G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Thr54Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138103811G>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Glu57Lys	rs1243187610	missense variant	-	NC_000003.12:g.138103803C>T	TOPMed
DZIP1L	Q8IYY4	p.Cys65Arg	rs552755792	missense variant	-	NC_000003.12:g.138103779A>G	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Leu67Phe	rs753971499	missense variant	-	NC_000003.12:g.138103771C>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg69Trp	rs545888037	missense variant	-	NC_000003.12:g.138103767G>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg69Gln	rs182819610	missense variant	-	NC_000003.12:g.138103766C>T	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu70Val	rs1310942364	missense variant	-	NC_000003.12:g.138103763T>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu70Ala	rs1310942364	missense variant	-	NC_000003.12:g.138103763T>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val71Ala	rs752478096	missense variant	-	NC_000003.12:g.138103760A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Val71Leu	rs1301243905	missense variant	-	NC_000003.12:g.138103761C>A	gnomAD
DZIP1L	Q8IYY4	p.Ser73Arg	rs767367553	missense variant	-	NC_000003.12:g.138103753G>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser73Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138103755T>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Arg74Cys	rs147377503	missense variant	-	NC_000003.12:g.138103752G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg74Leu	rs773821499	missense variant	-	NC_000003.12:g.138103751C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg74His	rs773821499	missense variant	-	NC_000003.12:g.138103751C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln77Glu	rs766082421	missense variant	-	NC_000003.12:g.138103743G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro78Leu	rs762332715	missense variant	-	NC_000003.12:g.138103739G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Val79Leu	rs772886047	missense variant	-	NC_000003.12:g.138103737C>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Asp80Asn	rs1478117553	missense variant	-	NC_000003.12:g.138103734C>T	gnomAD
DZIP1L	Q8IYY4	p.Asp80Glu	rs1367790486	missense variant	-	NC_000003.12:g.138103732G>T	TOPMed
DZIP1L	Q8IYY4	p.Pro81Ser	rs376878265	missense variant	-	NC_000003.12:g.138103731G>A	ESP,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro81Leu	rs747572718	missense variant	-	NC_000003.12:g.138103730G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val86Leu	rs142726001	missense variant	-	NC_000003.12:g.138103716C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg88Pro	rs199536207	missense variant	-	NC_000003.12:g.138103709C>G	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg88His	rs199536207	missense variant	-	NC_000003.12:g.138103709C>T	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg88Leu	rs199536207	missense variant	-	NC_000003.12:g.138103709C>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg88Cys	rs138845918	missense variant	-	NC_000003.12:g.138103710G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu89Pro	rs1023316550	missense variant	-	NC_000003.12:g.138103706A>G	TOPMed
DZIP1L	Q8IYY4	p.Ala90Pro	rs939727927	missense variant	-	NC_000003.12:g.138103704C>G	gnomAD
DZIP1L	Q8IYY4	p.Ala90Val	rs555349004	missense variant	Polycystic kidney disease 5 (PKD5)	NC_000003.12:g.138103703G>A	UniProt,dbSNP
DZIP1L	Q8IYY4	p.Ala90Val	VAR_078962	missense variant	Polycystic kidney disease 5 (PKD5)	NC_000003.12:g.138103703G>A	UniProt
DZIP1L	Q8IYY4	p.Ala90Val	rs555349004	missense variant	-	NC_000003.12:g.138103703G>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala90Ser	rs939727927	missense variant	-	NC_000003.12:g.138103704C>A	gnomAD
DZIP1L	Q8IYY4	p.Ala90Val	RCV000496993	missense variant	POLYCYSTIC KIDNEY DISEASE 5 (PKD5)	NC_000003.12:g.138103703G>A	ClinVar
DZIP1L	Q8IYY4	p.Gln91His	rs1135402754	missense variant	-	NC_000003.12:g.138103699C>G	TOPMed
DZIP1L	Q8IYY4	p.Gln91His	RCV000496986	missense variant	POLYCYSTIC KIDNEY DISEASE 5 (PKD5)	NC_000003.12:g.138103699C>G	ClinVar
DZIP1L	Q8IYY4	p.Leu92Phe	rs1247715972	missense variant	-	NC_000003.12:g.138103698G>A	TOPMed
DZIP1L	Q8IYY4	p.Ile93Val	rs751404547	missense variant	-	NC_000003.12:g.138103695T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ile94Thr	rs376940572	missense variant	-	NC_000003.12:g.138103691A>G	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu95Ala	rs1401530619	missense variant	-	NC_000003.12:g.138103688T>G	gnomAD
DZIP1L	Q8IYY4	p.TyrLeuLeuHis96Ter	rs770184972	stop gained	-	NC_000003.12:g.138103677_138103684del	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Tyr96Ter	rs749937461	stop gained	-	NC_000003.12:g.138103684G>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Tyr96His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138103686A>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Asp102Asn	rs1260271300	missense variant	-	NC_000003.12:g.138103668C>T	TOPMed
DZIP1L	Q8IYY4	p.Cys103Tyr	rs1353300256	missense variant	-	NC_000003.12:g.138103664C>T	gnomAD
DZIP1L	Q8IYY4	p.Cys103Ser	rs933536368	missense variant	-	NC_000003.12:g.138103665A>T	TOPMed
DZIP1L	Q8IYY4	p.Ser105Arg	rs1257029602	missense variant	-	NC_000003.12:g.138103657A>C	TOPMed
DZIP1L	Q8IYY4	p.Ser105Asn	COSM1419414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103658C>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ala106Ser	rs1474987795	missense variant	-	NC_000003.12:g.138103656C>A	gnomAD
DZIP1L	Q8IYY4	p.Ala106Val	rs1368652401	missense variant	-	NC_000003.12:g.138103655G>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val108Ile	rs764902342	missense variant	-	NC_000003.12:g.138103650C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val108Ala	rs761409752	missense variant	-	NC_000003.12:g.138103649A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala109Val	rs1198800081	missense variant	-	NC_000003.12:g.138103646G>A	gnomAD
DZIP1L	Q8IYY4	p.Ala109Ser	rs1254782937	missense variant	-	NC_000003.12:g.138103647C>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln110Arg	rs776082101	missense variant	-	NC_000003.12:g.138103643T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln110Ter	rs1459473323	stop gained	-	NC_000003.12:g.138103644G>A	gnomAD
DZIP1L	Q8IYY4	p.Glu112Ala	rs1198378186	missense variant	-	NC_000003.12:g.138103637T>G	gnomAD
DZIP1L	Q8IYY4	p.Arg114Trp	rs372489966	missense variant	-	NC_000003.12:g.138103632G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg114Gln	rs774817564	missense variant	-	NC_000003.12:g.138103631C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln116Leu	rs1340097450	missense variant	-	NC_000003.12:g.138103625T>A	gnomAD
DZIP1L	Q8IYY4	p.Thr117Asn	rs1310071268	missense variant	-	NC_000003.12:g.138103622G>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser118Arg	rs902380379	missense variant	-	NC_000003.12:g.138103618G>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly120Asp	rs777975721	missense variant	-	NC_000003.12:g.138103613C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln121Leu	COSM6096558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103610T>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gln122Ter	rs1391121308	stop gained	-	NC_000003.12:g.138103608G>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln122His	COSM4947096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103606C>G	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gln123Arg	rs769807839	missense variant	-	NC_000003.12:g.138103604T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg124His	rs566087317	missense variant	-	NC_000003.12:g.138103601C>T	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg124Cys	rs145919527	missense variant	-	NC_000003.12:g.138103602G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly125Ala	rs751292738	missense variant	-	NC_000003.12:g.138103598C>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gly125Ser	rs1441047921	missense variant	-	NC_000003.12:g.138103599C>T	gnomAD
DZIP1L	Q8IYY4	p.Glu128Gly	rs149119419	missense variant	-	NC_000003.12:g.138103589T>C	ESP,gnomAD
DZIP1L	Q8IYY4	p.Arg131Cys	rs758115822	missense variant	-	NC_000003.12:g.138103581G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg131Ser	rs758115822	missense variant	-	NC_000003.12:g.138103581G>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg131His	rs978089953	missense variant	-	NC_000003.12:g.138103580C>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Asp134Asn	rs1463026820	missense variant	-	NC_000003.12:g.138103572C>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu135Ter	rs764994133	stop gained	-	NC_000003.12:g.138103569C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu135Lys	rs764994133	missense variant	-	NC_000003.12:g.138103569C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu136Phe	rs761358256	missense variant	-	NC_000003.12:g.138103566G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Leu136Pro	rs1260890288	missense variant	-	NC_000003.12:g.138103565A>G	TOPMed
DZIP1L	Q8IYY4	p.Gly138Val	rs753428542	missense variant	-	NC_000003.12:g.138103559C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly138Arg	rs1308651344	missense variant	-	NC_000003.12:g.138103560C>G	gnomAD
DZIP1L	Q8IYY4	p.Val139Leu	rs1421480915	missense variant	-	NC_000003.12:g.138103557C>A	TOPMed
DZIP1L	Q8IYY4	p.Arg140Gln	rs760149160	missense variant	-	NC_000003.12:g.138103553C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg140Trp	rs138080927	missense variant	-	NC_000003.12:g.138103554G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu141Ter	COSM6163537	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138103551C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ser143Arg	rs1384913876	missense variant	-	NC_000003.12:g.138103543G>C	gnomAD
DZIP1L	Q8IYY4	p.Arg144Cys	rs774576837	missense variant	-	NC_000003.12:g.138103542G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg144His	rs369948773	missense variant	-	NC_000003.12:g.138103541C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg145Trp	rs763322076	missense variant	-	NC_000003.12:g.138103539G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg145Gln	rs200273535	missense variant	-	NC_000003.12:g.138103538C>T	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg146Cys	rs150414131	missense variant	-	NC_000003.12:g.138103536G>A	1000Genomes,ESP,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg146Pro	rs140445822	missense variant	-	NC_000003.12:g.138103535C>G	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg146His	rs140445822	missense variant	-	NC_000003.12:g.138103535C>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg146Ser	rs150414131	missense variant	-	NC_000003.12:g.138103536G>T	1000Genomes,ESP,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg147Cys	rs781705384	missense variant	-	NC_000003.12:g.138103533G>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg147His	rs768461359	missense variant	-	NC_000003.12:g.138103532C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg147Leu	rs768461359	missense variant	-	NC_000003.12:g.138103532C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg147Gly	rs781705384	missense variant	-	NC_000003.12:g.138103533G>C	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys148Arg	rs867010914	missense variant	-	NC_000003.12:g.138103529T>C	TOPMed
DZIP1L	Q8IYY4	p.Met149Ile	rs1285469345	missense variant	-	NC_000003.12:g.138103525C>A	TOPMed
DZIP1L	Q8IYY4	p.Ser151Gly	rs779856512	missense variant	-	NC_000003.12:g.138103521T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser151Ile	COSM1419413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103520C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ser151Arg	rs758206074	missense variant	-	NC_000003.12:g.138103519G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Thr152Ile	rs151236364	missense variant	-	NC_000003.12:g.138103517G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu153Met	COSM4113906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138103515G>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gln154Pro	rs778668538	missense variant	-	NC_000003.12:g.138103511T>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln155Ter	rs1135402755	stop gained	-	NC_000003.12:g.138103509G>A	-
DZIP1L	Q8IYY4	p.Gln155Ter	RCV000496990	nonsense	POLYCYSTIC KIDNEY DISEASE 5 (PKD5)	NC_000003.12:g.138103509G>A	ClinVar
DZIP1L	Q8IYY4	p.Gln155His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138103507C>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Gln155_Trp767del	VAR_078964	inframe_deletion	Polycystic kidney disease 5 (PKD5) [MIM:617610]	-	UniProt
DZIP1L	Q8IYY4	p.Gln159His	rs753264200	missense variant	-	NC_000003.12:g.138103495C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr160Ala	rs763727600	missense variant	-	NC_000003.12:g.138103494T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gly161Val	rs143704981	missense variant	-	NC_000003.12:g.138103490C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser164Arg	rs970984804	missense variant	-	NC_000003.12:g.138103480G>C	TOPMed
DZIP1L	Q8IYY4	p.Tyr165Phe	rs1455347020	missense variant	-	NC_000003.12:g.138103478T>A	TOPMed
DZIP1L	Q8IYY4	p.His166Tyr	rs1414590841	missense variant	-	NC_000003.12:g.138103476G>A	gnomAD
DZIP1L	Q8IYY4	p.Thr167Met	rs146612729	missense variant	-	NC_000003.12:g.138103472G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Cys168Tyr	COSM4829842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138097846C>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.His169Arg	rs1305512591	missense variant	-	NC_000003.12:g.138097843T>C	gnomAD
DZIP1L	Q8IYY4	p.Leu170Met	rs775470651	missense variant	-	NC_000003.12:g.138097841G>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Cys171Ter	rs758554169	stop gained	-	NC_000003.12:g.138097837_138097838insTC	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Cys171Tyr	COSM1038977	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138097837C>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Asn177Lys	rs745858461	missense variant	-	NC_000003.12:g.138097818A>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Asn177Asp	rs144376816	missense variant	-	NC_000003.12:g.138097820T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala178Val	rs774436206	missense variant	-	NC_000003.12:g.138097816G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg182Gln	rs749061978	missense variant	-	NC_000003.12:g.138097804C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg182Trp	rs372740940	missense variant	-	NC_000003.12:g.138097805G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly183Ser	rs1354250404	missense variant	-	NC_000003.12:g.138097802C>T	gnomAD
DZIP1L	Q8IYY4	p.His184Tyr	rs944659930	missense variant	-	NC_000003.12:g.138097799G>A	gnomAD
DZIP1L	Q8IYY4	p.Arg187Cys	rs758754793	missense variant	-	NC_000003.12:g.138097790G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg187His	rs199620264	missense variant	-	NC_000003.12:g.138097789C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg187Leu	rs199620264	missense variant	-	NC_000003.12:g.138097789C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.His189Pro	rs780742594	missense variant	-	NC_000003.12:g.138097783T>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.His189Arg	rs780742594	missense variant	-	NC_000003.12:g.138097783T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala190Val	rs566510192	missense variant	-	NC_000003.12:g.138097780G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala190Thr	COSM6096562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138097781C>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gly191Asp	rs750859667	missense variant	-	NC_000003.12:g.138097777C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Val192Met	rs867752811	missense variant	-	NC_000003.12:g.138097775C>T	TOPMed
DZIP1L	Q8IYY4	p.Ala193Thr	rs1232028180	missense variant	-	NC_000003.12:g.138097772C>T	gnomAD
DZIP1L	Q8IYY4	p.Ala193Glu	rs757589778	missense variant	-	NC_000003.12:g.138097771G>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu194Gln	rs1323121995	missense variant	-	NC_000003.12:g.138097769C>G	gnomAD
DZIP1L	Q8IYY4	p.Gly195Val	rs1289195549	missense variant	-	NC_000003.12:g.138097765C>A	gnomAD
DZIP1L	Q8IYY4	p.Lys197Glu	rs752910091	missense variant	-	NC_000003.12:g.138094981T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln198Arg	rs767875440	missense variant	-	NC_000003.12:g.138094977T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln198His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138094976C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Lys199Asn	COSM1419412	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138094973C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Lys200Ile	COSM280699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138094971T>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gln201His	COSM1419411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138094967C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Glu202Asp	rs199701141	missense variant	-	NC_000003.12:g.138094964T>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu202Gln	rs759650616	missense variant	-	NC_000003.12:g.138094966C>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln203Glu	rs1282885844	missense variant	-	NC_000003.12:g.138094963G>C	TOPMed
DZIP1L	Q8IYY4	p.Val205Met	rs974019095	missense variant	-	NC_000003.12:g.138094957C>T	gnomAD
DZIP1L	Q8IYY4	p.Glu206Lys	rs766320387	missense variant	-	NC_000003.12:g.138094954C>T	ExAC
DZIP1L	Q8IYY4	p.Glu207Asp	rs546174985	missense variant	-	NC_000003.12:g.138094949C>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu209Ser	rs1245549337	missense variant	-	NC_000003.12:g.138094944A>G	TOPMed
DZIP1L	Q8IYY4	p.Glu211Asp	rs1302588392	missense variant	-	NC_000003.12:g.138094937C>G	gnomAD
DZIP1L	Q8IYY4	p.Arg213Gln	rs761606292	missense variant	-	NC_000003.12:g.138094932C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg213Trp	rs557241499	missense variant	-	NC_000003.12:g.138094933G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys215Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138094926T>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Leu216Pro	rs776212758	missense variant	-	NC_000003.12:g.138094923A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys217Gln	rs367898976	missense variant	-	NC_000003.12:g.138094921T>G	ESP
DZIP1L	Q8IYY4	p.Trp218Arg	COSM3992767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138094918A>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Trp218Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138094916C>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Gly221Glu	rs768326674	missense variant	-	NC_000003.12:g.138094908C>T	ExAC,TOPMed
DZIP1L	Q8IYY4	p.Leu223Val	rs1158287390	missense variant	-	NC_000003.12:g.138094903G>C	TOPMed
DZIP1L	Q8IYY4	p.Glu224Asp	rs746490212	missense variant	-	NC_000003.12:g.138094898T>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu224Gln	rs1342587844	missense variant	-	NC_000003.12:g.138094900C>G	gnomAD
DZIP1L	Q8IYY4	p.Ala225Val	rs775027762	missense variant	-	NC_000003.12:g.138094896G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu228Gly	rs1408720926	missense variant	-	NC_000003.12:g.138094887T>C	TOPMed
DZIP1L	Q8IYY4	p.Glu228GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.138094889_138094890insT	NCI-TCGA
DZIP1L	Q8IYY4	p.Ala229Val	rs148594666	missense variant	-	NC_000003.12:g.138094884G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu230Lys	rs1320187406	missense variant	-	NC_000003.12:g.138094882C>T	TOPMed
DZIP1L	Q8IYY4	p.Arg231Lys	rs1461711737	missense variant	-	NC_000003.12:g.138094878C>T	gnomAD
DZIP1L	Q8IYY4	p.Arg233Gln	rs748555938	missense variant	-	NC_000003.12:g.138094872C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg233Trp	rs374326524	missense variant	-	NC_000003.12:g.138094873G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln236Leu	rs781534394	missense variant	-	NC_000003.12:g.138094863T>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln236His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138094862C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Glu237Gly	rs148698535	missense variant	-	NC_000003.12:g.138092543T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ile241Val	rs755249459	missense variant	-	NC_000003.12:g.138092532T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.His242Arg	rs1190741762	missense variant	-	NC_000003.12:g.138092528T>C	TOPMed
DZIP1L	Q8IYY4	p.Gln243Ter	rs747165958	stop gained	-	NC_000003.12:g.138092526G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln243His	COSM460907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092524C>G	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gln243Arg	rs780341260	missense variant	-	NC_000003.12:g.138092525T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu245Ter	rs1267493387	stop gained	-	NC_000003.12:g.138092520C>A	gnomAD
DZIP1L	Q8IYY4	p.Ile246Thr	rs1212669363	missense variant	-	NC_000003.12:g.138092516A>G	gnomAD
DZIP1L	Q8IYY4	p.Ile246Val	rs758357681	missense variant	-	NC_000003.12:g.138092517T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu247Lys	COSM1038976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092514C>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Lys249Glu	rs1310101266	missense variant	-	NC_000003.12:g.138092508T>C	gnomAD
DZIP1L	Q8IYY4	p.Lys249Asn	COSM1038975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092506C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Lys250Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.138092505T>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Glu251Ala	rs1348337515	missense variant	-	NC_000003.12:g.138092501T>G	gnomAD
DZIP1L	Q8IYY4	p.Phe252Leu	rs765052280	missense variant	-	NC_000003.12:g.138092497A>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Trp255Leu	COSM1038974	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092489C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Lys256Thr	rs1326594470	missense variant	-	NC_000003.12:g.138092486T>G	gnomAD
DZIP1L	Q8IYY4	p.Lys256Gln	rs970197178	missense variant	-	NC_000003.12:g.138092487T>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys256Glu	rs970197178	missense variant	-	NC_000003.12:g.138092487T>C	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu257Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138092484C>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Gln258Ter	rs757232364	stop gained	-	NC_000003.12:g.138092481G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln258Glu	rs757232364	missense variant	-	NC_000003.12:g.138092481G>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Trp260Arg	rs1384004880	missense variant	-	NC_000003.12:g.138092475A>T	gnomAD
DZIP1L	Q8IYY4	p.Trp260Ter	rs144125944	stop gained	-	NC_000003.12:g.138092473C>T	1000Genomes
DZIP1L	Q8IYY4	p.Thr261Ile	rs753615520	missense variant	-	NC_000003.12:g.138092471G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys262Thr	COSM1419410	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092468T>G	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Leu263Phe	rs763942623	missense variant	-	NC_000003.12:g.138092466G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Tyr264His	rs760465903	missense variant	-	NC_000003.12:g.138092463A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Tyr264Ter	rs774957162	stop gained	-	NC_000003.12:g.138092461A>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly265Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138092459C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Glu266GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.138092456_138092457insC	NCI-TCGA
DZIP1L	Q8IYY4	p.Ile267Arg	rs553559481	missense variant	-	NC_000003.12:g.138092453A>C	1000Genomes
DZIP1L	Q8IYY4	p.Asp268Glu	rs1269945361	missense variant	-	NC_000003.12:g.138092449A>T	gnomAD
DZIP1L	Q8IYY4	p.Asp268Asn	rs1452507980	missense variant	-	NC_000003.12:g.138092451C>T	gnomAD
DZIP1L	Q8IYY4	p.Lys269Thr	rs758939814	missense variant	-	NC_000003.12:g.138092447T>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys269Glu	rs767229944	missense variant	-	NC_000003.12:g.138092448T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu270Gln	rs1242480151	missense variant	-	NC_000003.12:g.138092444A>T	gnomAD
DZIP1L	Q8IYY4	p.Leu270Ile	rs1286824084	missense variant	-	NC_000003.12:g.138092445G>T	gnomAD
DZIP1L	Q8IYY4	p.Lys271Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138092440T>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Lys272Gln	COSM1670593	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092439T>G	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Lys272AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.138092437T>-	NCI-TCGA
DZIP1L	Q8IYY4	p.Leu273IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.138092436_138092437insT	NCI-TCGA
DZIP1L	Q8IYY4	p.Trp275Arg	rs770414266	missense variant	-	NC_000003.12:g.138092430A>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Trp275Arg	rs770414266	missense variant	-	NC_000003.12:g.138092430A>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Trp275Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138092428C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Asp276Glu	rs762478675	missense variant	-	NC_000003.12:g.138092425A>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu277Gly	rs777285749	missense variant	-	NC_000003.12:g.138092423T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu277Ter	COSM4679949	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138092424C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Phe278Leu	rs1304734469	missense variant	-	NC_000003.12:g.138092421A>G	gnomAD
DZIP1L	Q8IYY4	p.Phe278Tyr	rs376322296	missense variant	-	NC_000003.12:g.138092420A>T	ESP,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys279Ter	rs1364634256	stop gained	-	NC_000003.12:g.138092418T>A	gnomAD
DZIP1L	Q8IYY4	p.Lys279Thr	COSM1038973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138092417T>G	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ala282Thr	rs199809396	missense variant	-	NC_000003.12:g.138092409C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys283Glu	rs1382176010	missense variant	-	NC_000003.12:g.138092406T>C	gnomAD
DZIP1L	Q8IYY4	p.Gln284Arg	rs1431821204	missense variant	-	NC_000003.12:g.138092402T>C	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln284Pro	rs1431821204	missense variant	-	NC_000003.12:g.138092402T>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln284Ter	rs1478652932	stop gained	-	NC_000003.12:g.138092403G>A	gnomAD
DZIP1L	Q8IYY4	p.Ser286Cys	rs772375697	missense variant	-	NC_000003.12:g.138092396G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Thr287Ile	rs779020552	missense variant	-	NC_000003.12:g.138092393G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr287Ala	rs373057028	missense variant	-	NC_000003.12:g.138092394T>C	ESP,ExAC
DZIP1L	Q8IYY4	p.Leu288Val	rs370713283	missense variant	-	NC_000003.12:g.138092391G>C	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu290Gly	rs1283666211	missense variant	-	NC_000003.12:g.138092384T>C	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys291Glu	rs749401543	missense variant	-	NC_000003.12:g.138088507T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg293Leu	rs201374783	missense variant	-	NC_000003.12:g.138088500C>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg293Pro	rs201374783	missense variant	-	NC_000003.12:g.138088500C>G	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg293Gln	rs201374783	missense variant	-	NC_000003.12:g.138088500C>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg293Trp	rs548204161	missense variant	-	NC_000003.12:g.138088501G>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala294Glu	rs751169623	missense variant	-	NC_000003.12:g.138088497G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala294Val	rs751169623	missense variant	-	NC_000003.12:g.138088497G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala294Thr	rs781110260	missense variant	-	NC_000003.12:g.138088498C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln296Lys	rs762509054	missense variant	-	NC_000003.12:g.138088492G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln296Arg	rs749990522	missense variant	-	NC_000003.12:g.138088491T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser297Phe	rs559538065	missense variant	-	NC_000003.12:g.138088488G>A	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Val300Ala	rs202128493	missense variant	-	NC_000003.12:g.138088479A>G	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Met301Val	rs1163877519	missense variant	-	NC_000003.12:g.138088477T>C	gnomAD
DZIP1L	Q8IYY4	p.Lys304Glu	rs775711836	missense variant	-	NC_000003.12:g.138088468T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys304Arg	rs532765182	missense variant	-	NC_000003.12:g.138088467T>C	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys304Gln	rs775711836	missense variant	-	NC_000003.12:g.138088468T>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly306Val	COSM6163539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138088461C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Leu308Pro	rs1233241542	missense variant	-	NC_000003.12:g.138088455A>G	gnomAD
DZIP1L	Q8IYY4	p.Leu308Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138088456G>C	NCI-TCGA
DZIP1L	Q8IYY4	p.Arg309Gln	rs1271901847	missense variant	-	NC_000003.12:g.138088452C>T	gnomAD
DZIP1L	Q8IYY4	p.Arg309Ter	rs147343775	stop gained	-	NC_000003.12:g.138088453G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu311Lys	rs749348378	missense variant	-	NC_000003.12:g.138088447C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu312Lys	rs777087460	missense variant	-	NC_000003.12:g.138088444C>T	gnomAD
DZIP1L	Q8IYY4	p.Ser313Thr	rs1287681528	missense variant	-	NC_000003.12:g.138088441A>T	TOPMed
DZIP1L	Q8IYY4	p.Glu315Gln	rs1300241940	missense variant	-	NC_000003.12:g.138088435C>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Trp316Arg	rs769616525	missense variant	-	NC_000003.12:g.138088432A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg318Gln	rs200437191	missense variant	-	NC_000003.12:g.138088425C>T	-
DZIP1L	Q8IYY4	p.Arg318Trp	rs748053549	missense variant	-	NC_000003.12:g.138088426G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg321Gln	rs1383386156	missense variant	-	NC_000003.12:g.138088416C>T	gnomAD
DZIP1L	Q8IYY4	p.Arg321Trp	rs2724693	missense variant	-	NC_000003.12:g.138088417G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala325Val	rs561108246	missense variant	-	NC_000003.12:g.138088404G>A	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala325Gly	rs561108246	missense variant	-	NC_000003.12:g.138088404G>C	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala325Ser	rs746836615	missense variant	-	NC_000003.12:g.138088405C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala325Thr	rs746836615	missense variant	-	NC_000003.12:g.138088405C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu326Met	rs1000973603	missense variant	-	NC_000003.12:g.138088402G>T	TOPMed
DZIP1L	Q8IYY4	p.Leu326Arg	rs1261387368	missense variant	-	NC_000003.12:g.138088401A>C	gnomAD
DZIP1L	Q8IYY4	p.Glu328Lys	rs1178695870	missense variant	-	NC_000003.12:g.138088396C>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu328Gln	rs1178695870	missense variant	-	NC_000003.12:g.138088396C>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu328Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138088395T>C	NCI-TCGA
DZIP1L	Q8IYY4	p.Lys329Glu	rs200774363	missense variant	-	NC_000003.12:g.138088393T>C	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys329Arg	rs764866419	missense variant	-	NC_000003.12:g.138088392T>C	ExAC,TOPMed
DZIP1L	Q8IYY4	p.Thr330Ile	rs756723997	missense variant	-	NC_000003.12:g.138088389G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu331Ter	COSM1038970	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138088387C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Glu331Asp	COSM1038969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138088385T>G	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gln333Ter	COSM1484666	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138088381G>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Thr335Met	rs765412908	missense variant	-	NC_000003.12:g.138087019G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr335Arg	rs765412908	missense variant	-	NC_000003.12:g.138087019G>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Trp337Ter	rs1344583642	stop gained	-	NC_000003.12:g.138087013C>T	gnomAD
DZIP1L	Q8IYY4	p.Trp337Arg	rs776620159	missense variant	-	NC_000003.12:g.138087014A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg339Ile	COSM1038968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138087007C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Lys340Gln	rs760758898	missense variant	-	NC_000003.12:g.138087005T>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Val341Leu	rs775571191	missense variant	-	NC_000003.12:g.138087002C>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu343Gly	rs771933156	missense variant	-	NC_000003.12:g.138086995T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Leu344Pro	rs1184320485	missense variant	-	NC_000003.12:g.138086992A>G	gnomAD
DZIP1L	Q8IYY4	p.His345Arg	rs745678956	missense variant	-	NC_000003.12:g.138086989T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu347Gly	rs1308958125	missense variant	-	NC_000003.12:g.138086983T>C	TOPMed
DZIP1L	Q8IYY4	p.Glu347Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138086982C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.His348Arg	rs1475361281	missense variant	-	NC_000003.12:g.138086980T>C	gnomAD
DZIP1L	Q8IYY4	p.Met349Val	rs778588093	missense variant	-	NC_000003.12:g.138086978T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Met349Thr	rs770538165	missense variant	-	NC_000003.12:g.138086977A>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Met349Ile	rs748818108	missense variant	-	NC_000003.12:g.138086976C>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Met349Ile	rs748818108	missense variant	-	NC_000003.12:g.138086976C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala350Thr	rs1262926010	missense variant	-	NC_000003.12:g.138086975C>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys352Asn	COSM3427129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138086967C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Lys353Thr	rs1196212402	missense variant	-	NC_000003.12:g.138086965T>G	TOPMed
DZIP1L	Q8IYY4	p.Glu354Ter	RCV000496995	frameshift	POLYCYSTIC KIDNEY DISEASE 5 (PKD5)	NC_000003.12:g.138086961_138086962CT[1]	ClinVar
DZIP1L	Q8IYY4	p.Gln356Ter	rs746234376	stop gained	-	NC_000003.12:g.138084250G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln356Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138084249T>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Glu358Val	rs1248876854	missense variant	-	NC_000003.12:g.138084243T>A	gnomAD
DZIP1L	Q8IYY4	p.Glu358Ter	rs779215778	stop gained	-	NC_000003.12:g.138084244C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln360Arg	rs148073431	missense variant	-	NC_000003.12:g.138084237T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg361Gly	rs753951375	missense variant	-	NC_000003.12:g.138084235T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu362Ile	rs1461639260	missense variant	-	NC_000003.12:g.138084232G>T	gnomAD
DZIP1L	Q8IYY4	p.Leu362Pro	rs764435975	missense variant	-	NC_000003.12:g.138084231A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln363His	rs1357154073	missense variant	-	NC_000003.12:g.138084227C>G	gnomAD
DZIP1L	Q8IYY4	p.Ala364Pro	rs1161112507	missense variant	-	NC_000003.12:g.138084226C>G	gnomAD
DZIP1L	Q8IYY4	p.Ala364Thr	rs1161112507	missense variant	-	NC_000003.12:g.138084226C>T	gnomAD
DZIP1L	Q8IYY4	p.Leu366Val	rs1339780793	missense variant	-	NC_000003.12:g.138084220G>C	TOPMed
DZIP1L	Q8IYY4	p.Ser367Thr	rs1239713621	missense variant	-	NC_000003.12:g.138084217A>T	gnomAD
DZIP1L	Q8IYY4	p.Asp369Asn	rs752865093	missense variant	-	NC_000003.12:g.138084211C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys371Arg	rs746777390	missense variant	-	NC_000003.12:g.138084204T>C	TOPMed
DZIP1L	Q8IYY4	p.Lys371Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138084203C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Lys372Glu	rs1337126731	missense variant	-	NC_000003.12:g.138084202T>C	TOPMed
DZIP1L	Q8IYY4	p.Ala373Ser	rs1463287313	missense variant	-	NC_000003.12:g.138084199C>A	gnomAD
DZIP1L	Q8IYY4	p.Ser377Cys	rs767539998	missense variant	-	NC_000003.12:g.138084186G>C	ExAC,TOPMed
DZIP1L	Q8IYY4	p.Ser377Phe	rs767539998	missense variant	-	NC_000003.12:g.138084186G>A	ExAC,TOPMed
DZIP1L	Q8IYY4	p.Gln378Arg	rs759457544	missense variant	-	NC_000003.12:g.138084183T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Cys379Tyr	rs774348168	missense variant	-	NC_000003.12:g.138084180C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Cys379Trp	rs1373466150	missense variant	-	NC_000003.12:g.138084179G>C	gnomAD
DZIP1L	Q8IYY4	p.Gln380Ter	rs766028830	stop gained	-	NC_000003.12:g.138084178G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ile381Val	rs942553360	missense variant	-	NC_000003.12:g.138084175T>C	TOPMed
DZIP1L	Q8IYY4	p.Ser382Gly	rs909678216	missense variant	-	NC_000003.12:g.138084172T>C	TOPMed
DZIP1L	Q8IYY4	p.Thr383Ile	rs1442522015	missense variant	-	NC_000003.12:g.138084168G>A	TOPMed
DZIP1L	Q8IYY4	p.Leu384Phe	rs1159594137	missense variant	-	NC_000003.12:g.138084166G>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu384Ile	rs1159594137	missense variant	-	NC_000003.12:g.138084166G>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg385His	rs769472234	missense variant	-	NC_000003.12:g.138084162C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg385Cys	rs143605646	missense variant	-	NC_000003.12:g.138084163G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln387Ter	rs747630867	stop gained	-	NC_000003.12:g.138084157G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Leu388Val	rs776186022	missense variant	-	NC_000003.12:g.138084154G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln389Lys	rs1169696325	missense variant	-	NC_000003.12:g.138084151G>T	TOPMed
DZIP1L	Q8IYY4	p.Gln389Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138084150T>C	NCI-TCGA
DZIP1L	Q8IYY4	p.Ala392Thr	rs376750141	missense variant	-	NC_000003.12:g.138084142C>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg393Gly	rs746296826	missense variant	-	NC_000003.12:g.138084139T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ile394Thr	rs1285066638	missense variant	-	NC_000003.12:g.138084135A>G	gnomAD
DZIP1L	Q8IYY4	p.Ala396Ser	rs1205577909	missense variant	-	NC_000003.12:g.138084130C>A	gnomAD
DZIP1L	Q8IYY4	p.Ser397Phe	rs779489906	missense variant	-	NC_000003.12:g.138084126G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu399Lys	rs1258727182	missense variant	-	NC_000003.12:g.138084121C>T	gnomAD
DZIP1L	Q8IYY4	p.Met401Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138084115T>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Ile402Phe	rs200209176	missense variant	-	NC_000003.12:g.138081764T>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Leu405Phe	rs781585321	missense variant	-	NC_000003.12:g.138081753C>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Leu407Phe	rs1485766291	missense variant	-	NC_000003.12:g.138081749G>A	TOPMed
DZIP1L	Q8IYY4	p.Lys409Asn	rs552833973	missense variant	-	NC_000003.12:g.138081741C>A	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ile413Asn	rs199856777	missense variant	-	NC_000003.12:g.138080617A>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ile413Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138080618T>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Lys415Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138080610C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Val416Ala	rs758417408	missense variant	-	NC_000003.12:g.138080608A>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro417Ala	rs750306857	missense variant	-	NC_000003.12:g.138080606G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys418Met	COSM1419408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138080602T>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ala419Thr	rs1283228053	missense variant	-	NC_000003.12:g.138080600C>T	TOPMed
DZIP1L	Q8IYY4	p.Thr422Ile	rs1235976048	missense variant	-	NC_000003.12:g.138080590G>A	TOPMed
DZIP1L	Q8IYY4	p.Asp425Asn	rs1259172588	missense variant	-	NC_000003.12:g.138080582C>T	TOPMed
DZIP1L	Q8IYY4	p.Ser426Phe	rs149313849	missense variant	-	NC_000003.12:g.138080578G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Asp433Tyr	rs749023434	missense variant	-	NC_000003.12:g.138077624C>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser434Tyr	rs752344990	missense variant	-	NC_000003.12:g.138077620G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser434Thr	rs755874292	missense variant	-	NC_000003.12:g.138077621A>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser434Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138077621A>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Lys440Arg	rs1265606149	missense variant	-	NC_000003.12:g.138077602T>C	TOPMed
DZIP1L	Q8IYY4	p.Val441Ala	rs1052822497	missense variant	-	NC_000003.12:g.138077599A>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala444Ser	rs1225579548	missense variant	-	NC_000003.12:g.138077591C>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala444Thr	COSM2148886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138077591C>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Arg447His	rs376723739	missense variant	-	NC_000003.12:g.138077581C>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg447Leu	rs376723739	missense variant	-	NC_000003.12:g.138077581C>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg447Gly	rs114974820	missense variant	-	NC_000003.12:g.138077582G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg447Cys	rs114974820	missense variant	-	NC_000003.12:g.138077582G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg447Ser	rs114974820	missense variant	-	NC_000003.12:g.138077582G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Asn448LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.138077579_138077580insCTATTCATCAGCACATGGAACATTCTCCAAGATAG	NCI-TCGA
DZIP1L	Q8IYY4	p.Pro449Ala	rs1344381809	missense variant	-	NC_000003.12:g.138077576G>C	TOPMed
DZIP1L	Q8IYY4	p.Lys453Thr	rs760973222	missense variant	-	NC_000003.12:g.138077563T>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg456Ile	rs374077294	missense variant	-	NC_000003.12:g.138077554C>A	ESP,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg456Thr	rs374077294	missense variant	-	NC_000003.12:g.138077554C>G	ESP,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ile458Val	rs1322409351	missense variant	-	NC_000003.12:g.138077549T>C	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr462Ala	rs568852386	missense variant	-	NC_000003.12:g.138077537T>C	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu465Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.138077528C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Lys466Gln	rs201547120	missense variant	-	NC_000003.12:g.138077525T>G	1000Genomes
DZIP1L	Q8IYY4	p.Glu468Lys	rs770850434	missense variant	-	NC_000003.12:g.138077519C>T	ExAC,TOPMed
DZIP1L	Q8IYY4	p.Ser469Thr	rs1281613123	missense variant	-	NC_000003.12:g.138077515C>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser469Asn	rs1281613123	missense variant	-	NC_000003.12:g.138077515C>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Met470Leu	rs1284263339	missense variant	-	NC_000003.12:g.138077513T>G	TOPMed
DZIP1L	Q8IYY4	p.Gly471Arg	rs1174951508	missense variant	-	NC_000003.12:g.138077510C>T	gnomAD
DZIP1L	Q8IYY4	p.Ile472Met	rs755897541	missense variant	-	NC_000003.12:g.138077505T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ile472Leu	rs777593285	missense variant	-	NC_000003.12:g.138077507T>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys474Ter	rs747931783	stop gained	-	NC_000003.12:g.138077501T>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys474Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138077499C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Gly478Arg	rs1360295989	missense variant	-	NC_000003.12:g.138071826C>T	gnomAD
DZIP1L	Q8IYY4	p.Gly478Glu	COSM1038967	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138071825C>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ser480Leu	rs747959405	missense variant	-	NC_000003.12:g.138071819G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ile481Val	rs202011537	missense variant	-	NC_000003.12:g.138071817T>C	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln482Leu	rs768572145	missense variant	-	NC_000003.12:g.138071813T>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr483Ile	rs747614039	missense variant	-	NC_000003.12:g.138071810G>A	gnomAD
DZIP1L	Q8IYY4	p.Leu484Pro	rs1391601740	missense variant	-	NC_000003.12:g.138071807A>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.His486Tyr	rs779878262	missense variant	-	NC_000003.12:g.138071802G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Leu487Met	rs889086878	missense variant	-	NC_000003.12:g.138071799G>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu488Lys	rs1165449428	missense variant	-	NC_000003.12:g.138071796C>T	gnomAD
DZIP1L	Q8IYY4	p.Leu491Pro	rs1183044204	missense variant	-	NC_000003.12:g.138071786A>G	gnomAD
DZIP1L	Q8IYY4	p.Val493Asp	rs556276730	missense variant	-	NC_000003.12:g.138071780A>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg495Trp	rs753058491	missense variant	-	NC_000003.12:g.138071775G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg495Gln	rs150466957	missense variant	-	NC_000003.12:g.138071774C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln497Glu	rs375872409	missense variant	-	NC_000003.12:g.138071769G>C	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys498Glu	rs140548803	missense variant	-	NC_000003.12:g.138071766T>C	ESP,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala499Ser	rs1264617486	missense variant	-	NC_000003.12:g.138071763C>A	gnomAD
DZIP1L	Q8IYY4	p.Arg500Gln	rs566510085	missense variant	-	NC_000003.12:g.138071759C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg500Trp	rs184030146	missense variant	-	NC_000003.12:g.138071760G>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys501Asn	rs761584698	missense variant	-	NC_000003.12:g.138071755C>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys501Asn	rs761584698	missense variant	-	NC_000003.12:g.138071755C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu504Val	rs548651176	missense variant	-	NC_000003.12:g.138071747T>A	1000Genomes
DZIP1L	Q8IYY4	p.Phe505Tyr	rs768525363	missense variant	-	NC_000003.12:g.138071744A>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg509Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138071733T>C	NCI-TCGA
DZIP1L	Q8IYY4	p.Arg509Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138071732C>T	NCI-TCGA
DZIP1L	Q8IYY4	p.Lys511Met	rs746836568	missense variant	-	NC_000003.12:g.138071726T>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys511Thr	rs746836568	missense variant	-	NC_000003.12:g.138071726T>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu512Phe	rs529011516	missense variant	-	NC_000003.12:g.138071724G>A	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Leu512Val	rs529011516	missense variant	-	NC_000003.12:g.138071724G>C	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Val513Asp	rs1159682286	missense variant	-	NC_000003.12:g.138071720A>T	gnomAD
DZIP1L	Q8IYY4	p.Lys514Arg	rs148790083	missense variant	-	NC_000003.12:g.138071717T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr517Ser	rs756795805	missense variant	-	NC_000003.12:g.138071708G>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr517Ile	rs756795805	missense variant	-	NC_000003.12:g.138071708G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg519Ter	rs147779217	stop gained	-	NC_000003.12:g.138071703T>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala520Val	rs1248516032	missense variant	-	NC_000003.12:g.138071699G>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala520Thr	rs781686459	missense variant	-	NC_000003.12:g.138071700C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala520Glu	rs1248516032	missense variant	-	NC_000003.12:g.138071699G>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys521Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138071697T>C	NCI-TCGA
DZIP1L	Q8IYY4	p.Glu522Lys	rs751968525	missense variant	-	NC_000003.12:g.138071694C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu522Ter	rs751968525	stop gained	-	NC_000003.12:g.138071694C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln524Ter	rs929750748	stop gained	-	NC_000003.12:g.138071688G>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln524Glu	rs929750748	missense variant	-	NC_000003.12:g.138071688G>C	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu525Lys	rs1266014866	missense variant	-	NC_000003.12:g.138071685C>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu525Val	rs1227398254	missense variant	-	NC_000003.12:g.138071684T>A	gnomAD
DZIP1L	Q8IYY4	p.Gly527Ser	rs1239636050	missense variant	-	NC_000003.12:g.138071679C>T	TOPMed
DZIP1L	Q8IYY4	p.Ala528Thr	rs750660072	missense variant	-	NC_000003.12:g.138071676C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln532Arg	COSM4113902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138071663T>C	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Pro533Thr	rs776674487	missense variant	-	NC_000003.12:g.138071661G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Asp534Asn	rs1437907414	missense variant	-	NC_000003.12:g.138071658C>T	gnomAD
DZIP1L	Q8IYY4	p.Gly535Arg	rs540859814	missense variant	-	NC_000003.12:g.138071655C>T	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln536Lys	rs1447188312	missense variant	-	NC_000003.12:g.138071652G>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro537Ser	rs775487339	missense variant	-	NC_000003.12:g.138071649G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Val539Phe	rs1427089135	missense variant	-	NC_000003.12:g.138071643C>A	TOPMed
DZIP1L	Q8IYY4	p.Ser541Arg	rs760762911	missense variant	-	NC_000003.12:g.138068362T>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Thr545Ile	rs1313026197	missense variant	-	NC_000003.12:g.138068349G>A	TOPMed
DZIP1L	Q8IYY4	p.Thr545Ala	rs446644	missense variant	-	NC_000003.12:g.138068350T>C	UniProt,dbSNP
DZIP1L	Q8IYY4	p.Thr545Ala	VAR_042757	missense variant	-	NC_000003.12:g.138068350T>C	UniProt
DZIP1L	Q8IYY4	p.Thr545Ala	rs446644	missense variant	-	NC_000003.12:g.138068350T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr545Ser	rs446644	missense variant	-	NC_000003.12:g.138068350T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu546Arg	rs759399609	missense variant	-	NC_000003.12:g.138068346A>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Leu546Pro	rs759399609	missense variant	-	NC_000003.12:g.138068346A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Val547Phe	rs773842291	missense variant	-	NC_000003.12:g.138068344C>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Thr548Asn	rs201114444	missense variant	-	NC_000003.12:g.138068340G>T	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Thr548Ser	rs1481754211	missense variant	-	NC_000003.12:g.138068341T>A	gnomAD
DZIP1L	Q8IYY4	p.Arg549Thr	rs534908622	missense variant	-	NC_000003.12:g.138068337C>G	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu550Asp	rs772774775	missense variant	-	NC_000003.12:g.138068333C>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu550Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138068333C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Ala551Val	rs11917468	missense variant	-	NC_000003.12:g.138068331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln552Ter	rs780631525	stop gained	-	NC_000003.12:g.138068329G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys554Gln	rs758647781	missense variant	-	NC_000003.12:g.138068323T>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys554Arg	rs746287400	missense variant	-	NC_000003.12:g.138068322T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln559His	rs538978794	missense variant	-	NC_000003.12:g.138068306C>A	1000Genomes,ExAC,TOPMed
DZIP1L	Q8IYY4	p.Gln559Glu	rs1162635826	missense variant	-	NC_000003.12:g.138068308G>C	gnomAD
DZIP1L	Q8IYY4	p.Gln559Pro	rs879160523	missense variant	-	NC_000003.12:g.138068307T>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln559Ter	rs1162635826	stop gained	-	NC_000003.12:g.138068308G>A	gnomAD
DZIP1L	Q8IYY4	p.Gln559Arg	rs879160523	missense variant	-	NC_000003.12:g.138068307T>C	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala561Ser	rs202118009	missense variant	-	NC_000003.12:g.138068302C>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala561Thr	rs202118009	missense variant	-	NC_000003.12:g.138068302C>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala561Val	rs1160841809	missense variant	-	NC_000003.12:g.138068301G>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu562Phe	rs756276758	missense variant	-	NC_000003.12:g.138068297C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro563Ser	rs752530275	missense variant	-	NC_000003.12:g.138068296G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser564Cys	rs767522301	missense variant	-	NC_000003.12:g.138068292G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro566Ser	rs1206422620	missense variant	-	NC_000003.12:g.138068287G>A	gnomAD
DZIP1L	Q8IYY4	p.Pro566Leu	rs368560450	missense variant	-	NC_000003.12:g.138068286G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala567Ser	rs766015567	missense variant	-	NC_000003.12:g.138068284C>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala567Glu	rs762524640	missense variant	-	NC_000003.12:g.138068283G>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro569Leu	rs1226781485	missense variant	-	NC_000003.12:g.138068277G>A	gnomAD
DZIP1L	Q8IYY4	p.Pro569Arg	rs1226781485	missense variant	-	NC_000003.12:g.138068277G>C	gnomAD
DZIP1L	Q8IYY4	p.Pro569Gln	COSM4923659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138068277G>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Pro570Thr	rs1328804754	missense variant	-	NC_000003.12:g.138068275G>T	gnomAD
DZIP1L	Q8IYY4	p.Pro571Ala	rs772860655	missense variant	-	NC_000003.12:g.138068272G>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro571HisPheSerTerUnkUnk	COSM5059350	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138068271G>-	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Pro571Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138068272G>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Pro571Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138068271G>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Pro572Leu	rs769240987	missense variant	-	NC_000003.12:g.138068268G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Thr573Ala	rs1173892410	missense variant	-	NC_000003.12:g.138068266T>C	TOPMed
DZIP1L	Q8IYY4	p.Thr573Asn	rs761414534	missense variant	-	NC_000003.12:g.138068265G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg574His	rs772686379	missense variant	-	NC_000003.12:g.138068262C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg574Cys	rs775832526	missense variant	-	NC_000003.12:g.138068263G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg574Gly	rs775832526	missense variant	-	NC_000003.12:g.138068263G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln575His	rs1398479551	missense variant	-	NC_000003.12:g.138068258C>G	TOPMed
DZIP1L	Q8IYY4	p.Ser576Arg	rs746208976	missense variant	-	NC_000003.12:g.138068257T>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.His577Arg	rs779404923	missense variant	-	NC_000003.12:g.138068253T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly578Asp	rs771428040	missense variant	-	NC_000003.12:g.138068250C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser579Asn	rs778165680	missense variant	-	NC_000003.12:g.138068247C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.His580Arg	rs199894224	missense variant	-	NC_000003.12:g.138068244T>C	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly581Val	rs1191115163	missense variant	-	NC_000003.12:g.138068241C>A	gnomAD
DZIP1L	Q8IYY4	p.Gly581Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138068242C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Ser582Cys	rs752870031	missense variant	-	NC_000003.12:g.138068238G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser582Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138068238G>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Thr585Ile	rs1207270158	missense variant	-	NC_000003.12:g.138068229G>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser588Pro	rs766101391	missense variant	-	NC_000003.12:g.138068221A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala589Val	rs1365905031	missense variant	-	NC_000003.12:g.138068217G>A	gnomAD
DZIP1L	Q8IYY4	p.Ala589Thr	rs138745459	missense variant	-	NC_000003.12:g.138068218C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala589Ser	rs138745459	missense variant	-	NC_000003.12:g.138068218C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala591Thr	rs760024871	missense variant	-	NC_000003.12:g.138068212C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala591Pro	rs760024871	missense variant	-	NC_000003.12:g.138068212C>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro592Arg	rs775012857	missense variant	-	NC_000003.12:g.138068208G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro592Ala	COSM4852863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138068209G>C	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Arg593Pro	rs374045	missense variant	-	NC_000003.12:g.138068205C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg593Cys	rs771373191	missense variant	-	NC_000003.12:g.138068206G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg593His	rs374045	missense variant	-	NC_000003.12:g.138068205C>T	UniProt,dbSNP
DZIP1L	Q8IYY4	p.Arg593His	VAR_042759	missense variant	-	NC_000003.12:g.138068205C>T	UniProt
DZIP1L	Q8IYY4	p.Arg593His	rs374045	missense variant	-	NC_000003.12:g.138068205C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro594Ala	rs778112346	missense variant	-	NC_000003.12:g.138068203G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro594Ser	rs778112346	missense variant	-	NC_000003.12:g.138068203G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gly595Arg	rs748170830	missense variant	-	NC_000003.12:g.138068200C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gly595Glu	rs115489792	missense variant	-	NC_000003.12:g.138068199C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu596Met	rs1187252650	missense variant	-	NC_000003.12:g.138068197G>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Leu596Pro	rs755026020	missense variant	-	NC_000003.12:g.138068196A>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro599Leu	rs751461802	missense variant	-	NC_000003.12:g.138068187G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser601Arg	rs1255469851	missense variant	-	NC_000003.12:g.138068182T>G	gnomAD
DZIP1L	Q8IYY4	p.Thr602Pro	rs1344452550	missense variant	-	NC_000003.12:g.138068179T>G	gnomAD
DZIP1L	Q8IYY4	p.Thr602Asn	rs1394149805	missense variant	-	NC_000003.12:g.138068178G>T	TOPMed
DZIP1L	Q8IYY4	p.Pro603Ala	rs757005981	missense variant	-	NC_000003.12:g.138068176G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro604Leu	rs267599621	missense variant	-	NC_000003.12:g.138068172G>A	TOPMed
DZIP1L	Q8IYY4	p.Ser606Leu	rs148944158	missense variant	-	NC_000003.12:g.138068166G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly607Arg	rs774961481	missense variant	-	NC_000003.12:g.138068164C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro608Ala	rs1376566834	missense variant	-	NC_000003.12:g.138068161G>C	gnomAD
DZIP1L	Q8IYY4	p.Gly609Arg	rs532478266	missense variant	-	NC_000003.12:g.138068158C>T	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly609Ala	rs1371884211	missense variant	-	NC_000003.12:g.138068157C>G	gnomAD
DZIP1L	Q8IYY4	p.Gly609Trp	rs532478266	missense variant	-	NC_000003.12:g.138068158C>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Met610Ile	rs150239870	missense variant	-	NC_000003.12:g.138068153C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Met610Ter	NCI-TCGA novel	frameshift	-	NC_000003.12:g.138068162C>-	NCI-TCGA
DZIP1L	Q8IYY4	p.Thr612Met	rs772148042	missense variant	-	NC_000003.12:g.138067698G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro613Ala	rs142662020	missense variant	-	NC_000003.12:g.138067696G>C	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro613His	rs749078245	missense variant	-	NC_000003.12:g.138067695G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro613Leu	rs749078245	missense variant	-	NC_000003.12:g.138067695G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro613Ser	rs142662020	missense variant	-	NC_000003.12:g.138067696G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro614Leu	rs369290439	missense variant	-	NC_000003.12:g.138067692G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro614Gln	COSM6163541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138067692G>T	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Pro614ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.138067692G>-	NCI-TCGA
DZIP1L	Q8IYY4	p.Ser616Arg	rs543412067	missense variant	-	NC_000003.12:g.138067685A>C	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser617Tyr	rs529669063	missense variant	-	NC_000003.12:g.138067683G>T	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser617Phe	rs529669063	missense variant	-	NC_000003.12:g.138067683G>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu618Lys	rs765699862	missense variant	-	NC_000003.12:g.138067681C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu619Gly	rs762213182	missense variant	-	NC_000003.12:g.138067677T>C	ExAC
DZIP1L	Q8IYY4	p.Asp620Asn	rs764375377	missense variant	-	NC_000003.12:g.138067675C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser621Ter	rs760823265	stop gained	-	NC_000003.12:g.138067671G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg625Cys	rs370494844	missense variant	-	NC_000003.12:g.138067660G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg625His	rs377337730	missense variant	-	NC_000003.12:g.138067659C>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln627Ter	rs1379450020	stop gained	-	NC_000003.12:g.138067654G>A	gnomAD
DZIP1L	Q8IYY4	p.Gln627His	rs759643891	missense variant	-	NC_000003.12:g.138067652C>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg628Cys	rs146774074	missense variant	-	NC_000003.12:g.138067651G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg628His	rs111285595	missense variant	-	NC_000003.12:g.138067650C>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser630Phe	rs749097141	missense variant	-	NC_000003.12:g.138067644G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro633Thr	rs747753833	missense variant	-	NC_000003.12:g.138067636G>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro633Ser	rs747753833	missense variant	-	NC_000003.12:g.138067636G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val636Phe	rs1204203694	missense variant	-	NC_000003.12:g.138067627C>A	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser638Phe	rs1276163556	missense variant	-	NC_000003.12:g.138067620G>A	gnomAD
DZIP1L	Q8IYY4	p.Arg639Lys	rs1231676478	missense variant	-	NC_000003.12:g.138067617C>T	gnomAD
DZIP1L	Q8IYY4	p.Met640Val	rs781023042	missense variant	-	NC_000003.12:g.138067615T>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Met640Ile	rs1299030399	missense variant	-	NC_000003.12:g.138067613C>T	gnomAD
DZIP1L	Q8IYY4	p.Pro642Ser	rs373021639	missense variant	-	NC_000003.12:g.138067609G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg643Trp	rs150921263	missense variant	-	NC_000003.12:g.138067606G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg643Gln	rs754376571	missense variant	-	NC_000003.12:g.138067605C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg643GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.138067606G>-	NCI-TCGA
DZIP1L	Q8IYY4	p.Arg643Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138067605C>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Pro644Arg	rs1236455717	missense variant	-	NC_000003.12:g.138067602G>C	gnomAD
DZIP1L	Q8IYY4	p.Pro644Ser	rs1432753398	missense variant	-	NC_000003.12:g.138067603G>A	gnomAD
DZIP1L	Q8IYY4	p.Lys645Arg	rs1313803801	missense variant	-	NC_000003.12:g.138067599T>C	TOPMed
DZIP1L	Q8IYY4	p.Lys645Gln	rs442800	missense variant	-	NC_000003.12:g.138067600T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Lys645Glu	rs442800	missense variant	-	NC_000003.12:g.138067600T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Asp646Val	rs767768205	missense variant	-	NC_000003.12:g.138067596T>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Trp648Ter	rs759590993	stop gained	-	NC_000003.12:g.138067590C>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Trp650Leu	rs1225458100	missense variant	-	NC_000003.12:g.138067584C>A	TOPMed
DZIP1L	Q8IYY4	p.Trp650Arg	rs774354933	missense variant	-	NC_000003.12:g.138067585A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu654Gln	rs1251007680	missense variant	-	NC_000003.12:g.138067573C>G	TOPMed
DZIP1L	Q8IYY4	p.Thr655Ile	COSM4113900	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138067569G>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Thr655Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138067570T>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Ser656Leu	rs370129719	missense variant	-	NC_000003.12:g.138067566G>A	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser656Ala	rs771045432	missense variant	-	NC_000003.12:g.138067567A>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Asn659Asp	rs1011282093	missense variant	-	NC_000003.12:g.138067558T>C	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Asn659Ser	rs1340463868	missense variant	-	NC_000003.12:g.138067557T>C	gnomAD
DZIP1L	Q8IYY4	p.Asn659Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138067557T>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Ala660Gly	rs1270049631	missense variant	-	NC_000003.12:g.138067554G>C	gnomAD
DZIP1L	Q8IYY4	p.Pro662His	rs769672232	missense variant	-	NC_000003.12:g.138067548G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro662Ser	rs1342537176	missense variant	-	NC_000003.12:g.138067549G>A	gnomAD
DZIP1L	Q8IYY4	p.Pro663Ala	rs747991781	missense variant	-	NC_000003.12:g.138067546G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser667Leu	rs1169072131	missense variant	-	NC_000003.12:g.138067533G>A	gnomAD
DZIP1L	Q8IYY4	p.Ser667Ala	rs1425368656	missense variant	-	NC_000003.12:g.138067534A>C	TOPMed
DZIP1L	Q8IYY4	p.Gly668Ter	rs768478437	stop gained	-	NC_000003.12:g.138067531C>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Thr669Lys	rs1415712239	missense variant	-	NC_000003.12:g.138064764G>T	gnomAD
DZIP1L	Q8IYY4	p.Val671Leu	rs369063453	missense variant	-	NC_000003.12:g.138064759C>G	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln672Lys	rs970655990	missense variant	-	NC_000003.12:g.138064756G>T	gnomAD
DZIP1L	Q8IYY4	p.Gln672Ter	rs970655990	stop gained	-	NC_000003.12:g.138064756G>A	gnomAD
DZIP1L	Q8IYY4	p.Gln672Arg	rs1409633848	missense variant	-	NC_000003.12:g.138064755T>C	gnomAD
DZIP1L	Q8IYY4	p.Ser673Leu	rs200415644	missense variant	-	NC_000003.12:g.138064752G>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val675Phe	rs1232766980	missense variant	-	NC_000003.12:g.138064747C>A	gnomAD
DZIP1L	Q8IYY4	p.Asn677Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138064740T>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Leu678Val	rs148421355	missense variant	-	NC_000003.12:g.138064738G>C	ESP,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Glu679Gly	rs1167223793	missense variant	-	NC_000003.12:g.138064734T>C	TOPMed
DZIP1L	Q8IYY4	p.Lys680Arg	COSM1038963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138064731T>C	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Leu682Pro	rs1472123809	missense variant	-	NC_000003.12:g.138064725A>G	gnomAD
DZIP1L	Q8IYY4	p.Ala684Asp	rs756673061	missense variant	-	NC_000003.12:g.138064719G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro685Leu	rs748509737	missense variant	-	NC_000003.12:g.138064716G>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala686Pro	rs781475894	missense variant	-	NC_000003.12:g.138064714C>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys687Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138064709C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Lys688Asn	rs2199948	missense variant	-	NC_000003.12:g.138064706C>G	gnomAD
DZIP1L	Q8IYY4	p.Pro689Ser	rs201438371	missense variant	-	NC_000003.12:g.138064705G>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro689Ala	rs201438371	missense variant	-	NC_000003.12:g.138064705G>C	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala690Thr	rs771180627	missense variant	-	NC_000003.12:g.138064702C>T	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ala690Pro	rs771180627	missense variant	-	NC_000003.12:g.138064702C>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly691Ter	rs751691591	stop gained	-	NC_000003.12:g.138064699C>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gly691Val	rs766663674	missense variant	-	NC_000003.12:g.138064698C>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gly692Arg	rs1323692306	missense variant	-	NC_000003.12:g.138064696C>T	gnomAD
DZIP1L	Q8IYY4	p.Ser694Gly	rs1460571527	missense variant	-	NC_000003.12:g.138064690T>C	gnomAD
DZIP1L	Q8IYY4	p.Ser694Asn	rs1404987820	missense variant	-	NC_000003.12:g.138064689C>T	TOPMed
DZIP1L	Q8IYY4	p.Phe696Ile	rs1388853060	missense variant	-	NC_000003.12:g.138064684A>T	gnomAD
DZIP1L	Q8IYY4	p.Phe697Val	rs758382573	missense variant	-	NC_000003.12:g.138064681A>C	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Phe697LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.138064679A>-	NCI-TCGA
DZIP1L	Q8IYY4	p.Met698TyrPheSerTerUnkUnk	rs747435690	frameshift	-	NC_000003.12:g.138064678_138064679insA	NCI-TCGA,NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Pro699Thr	rs533624679	missense variant	-	NC_000003.12:g.138064675G>T	1000Genomes
DZIP1L	Q8IYY4	p.Asn700Asp	rs1406623295	missense variant	-	NC_000003.12:g.138064672T>C	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg705Gly	rs765257921	missense variant	-	NC_000003.12:g.138064657T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg705Ser	COSM3846345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138064655C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ala706Pro	rs761773290	missense variant	-	NC_000003.12:g.138064654C>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ala706Asp	rs776725269	missense variant	-	NC_000003.12:g.138064653G>T	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Thr708Ile	rs374741388	missense variant	-	NC_000003.12:g.138064647G>A	ESP,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro709Ser	rs760553842	missense variant	-	NC_000003.12:g.138064645G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly710Val	rs1324606322	missense variant	-	NC_000003.12:g.138064641C>A	TOPMed
DZIP1L	Q8IYY4	p.Gly710Ter	rs1262902086	stop gained	-	NC_000003.12:g.138064642C>A	TOPMed
DZIP1L	Q8IYY4	p.Arg711Gly	rs1205778681	missense variant	-	NC_000003.12:g.138064639T>C	TOPMed
DZIP1L	Q8IYY4	p.Gln714His	rs1316401108	missense variant	-	NC_000003.12:g.138064628C>A	gnomAD
DZIP1L	Q8IYY4	p.Gln714Arg	rs774979419	missense variant	-	NC_000003.12:g.138064629T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Gln714Ter	COSM6096564	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.138064630G>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gln714Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138064630G>C	NCI-TCGA
DZIP1L	Q8IYY4	p.Asp718Tyr	COSM1038962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062968C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Glu719Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138062963C>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Ser720Asn	rs1455362166	missense variant	-	NC_000003.12:g.138062961C>T	gnomAD
DZIP1L	Q8IYY4	p.Asp721Tyr	rs1362196678	missense variant	-	NC_000003.12:g.138062959C>A	gnomAD
DZIP1L	Q8IYY4	p.Ser726Phe	rs1179570241	missense variant	-	NC_000003.12:g.138062943G>A	gnomAD
DZIP1L	Q8IYY4	p.Glu728Gln	rs189060326	missense variant	-	NC_000003.12:g.138062938C>G	1000Genomes,ExAC,gnomAD
DZIP1L	Q8IYY4	p.Asp729Gly	rs756163681	missense variant	-	NC_000003.12:g.138062934T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Asp733Ala	rs1272071881	missense variant	-	NC_000003.12:g.138062922T>G	gnomAD
DZIP1L	Q8IYY4	p.Asp735Gly	rs553034156	missense variant	-	NC_000003.12:g.138062916T>C	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gln736Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138062913T>C	NCI-TCGA
DZIP1L	Q8IYY4	p.Glu738Val	rs766015580	missense variant	-	NC_000003.12:g.138062907T>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu738Gly	rs766015580	missense variant	-	NC_000003.12:g.138062907T>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu738Ter	rs751410045	stop gained	-	NC_000003.12:g.138062908C>A	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu738Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138062908C>G	NCI-TCGA
DZIP1L	Q8IYY4	p.Pro740Leu	rs1237538106	missense variant	-	NC_000003.12:g.138062901G>A	TOPMed
DZIP1L	Q8IYY4	p.Pro742Ser	rs764752654	missense variant	-	NC_000003.12:g.138062896G>A	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser744Cys	rs1488901022	missense variant	-	NC_000003.12:g.138062889G>C	TOPMed
DZIP1L	Q8IYY4	p.Arg745His	rs776036159	missense variant	-	NC_000003.12:g.138062886C>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Arg745Ser	rs146029706	missense variant	-	NC_000003.12:g.138062887G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg745Cys	rs146029706	missense variant	-	NC_000003.12:g.138062887G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg745Pro	rs776036159	missense variant	-	NC_000003.12:g.138062886C>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Ser746Ter	rs577055084	stop gained	-	NC_000003.12:g.138062883G>C	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser746Leu	rs577055084	missense variant	-	NC_000003.12:g.138062883G>A	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser746Pro	rs768188379	missense variant	-	NC_000003.12:g.138062884A>G	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Lys747Gln	rs1191943533	missense variant	-	NC_000003.12:g.138062881T>G	TOPMed
DZIP1L	Q8IYY4	p.Pro749Gln	rs774927015	missense variant	-	NC_000003.12:g.138062874G>T	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Glu750Gly	rs1269576432	missense variant	-	NC_000003.12:g.138062871T>C	TOPMed
DZIP1L	Q8IYY4	p.Glu750Asp	COSM204920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062870C>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Lys751Asn	rs771430325	missense variant	-	NC_000003.12:g.138062867C>A	ExAC,TOPMed
DZIP1L	Q8IYY4	p.Phe752Ser	rs1452277369	missense variant	-	NC_000003.12:g.138062865A>G	TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Gly753Arg	COSM445669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062863C>G	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Gly753Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.138062862C>A	NCI-TCGA
DZIP1L	Q8IYY4	p.Thr754Ile	rs911042347	missense variant	-	NC_000003.12:g.138062859G>A	TOPMed
DZIP1L	Q8IYY4	p.Gly755Ala	rs1252206487	missense variant	-	NC_000003.12:g.138062856C>G	gnomAD
DZIP1L	Q8IYY4	p.Pro756Thr	rs1420212476	missense variant	-	NC_000003.12:g.138062854G>T	TOPMed
DZIP1L	Q8IYY4	p.Ser758Asn	rs199601496	missense variant	-	NC_000003.12:g.138062847C>T	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser758Thr	rs199601496	missense variant	-	NC_000003.12:g.138062847C>G	ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Ser759Phe	rs1435331709	missense variant	-	NC_000003.12:g.138062844G>A	TOPMed
DZIP1L	Q8IYY4	p.Gln761Leu	COSM1484665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062838T>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Pro762Ala	rs142617141	missense variant	-	NC_000003.12:g.138062836G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro762Arg	rs754972177	missense variant	-	NC_000003.12:g.138062835G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Pro762Ser	rs142617141	missense variant	-	NC_000003.12:g.138062836G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Arg763Thr	rs200913886	missense variant	-	NC_000003.12:g.138062832C>G	1000Genomes,ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Val764Ala	rs758211429	missense variant	-	NC_000003.12:g.138062829A>G	ExAC,TOPMed,gnomAD
DZIP1L	Q8IYY4	p.Pro765Ser	COSM4319413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.138062827G>A	NCI-TCGA Cosmic
DZIP1L	Q8IYY4	p.Ala766Gly	rs750050483	missense variant	-	NC_000003.12:g.138062823G>C	ExAC,gnomAD
DZIP1L	Q8IYY4	p.Trp767Ter	rs200902457	stop gained	-	NC_000003.12:g.138062820C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp2Ala	rs766135077	missense variant	-	NC_000009.12:g.87974442T>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Gln3Ter	rs758198659	stop gained	-	NC_000009.12:g.87974440G>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Gln3Glu	rs758198659	missense variant	-	NC_000009.12:g.87974440G>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Gln3Arg	rs1484187581	missense variant	-	NC_000009.12:g.87974439T>C	TOPMed,gnomAD
CDK20	Q8IZL9	p.Gln3His	rs750394238	missense variant	-	NC_000009.12:g.87974438C>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.TyrCys4TyrTerLeuUnk	rs1487041199	stop gained	-	NC_000009.12:g.87974433_87974436dup	gnomAD
CDK20	Q8IZL9	p.Tyr4Ter	rs202214490	stop gained	-	NC_000009.12:g.87974435G>T	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile6Thr	rs775986857	missense variant	-	NC_000009.12:g.87974430A>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly8Ser	rs767541571	missense variant	-	NC_000009.12:g.87974425C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly8Asp	rs759791237	missense variant	-	NC_000009.12:g.87974424C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Arg9His	rs377279902	missense variant	-	NC_000009.12:g.87974421C>T	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile10Ser	rs1356584509	missense variant	-	NC_000009.12:g.87974418A>C	TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu12Ter	rs1398171654	stop gained	-	NC_000009.12:g.87974413C>A	gnomAD
CDK20	Q8IZL9	p.Gly13Ser	rs1362514521	missense variant	-	NC_000009.12:g.87974410C>T	gnomAD
CDK20	Q8IZL9	p.Ala14Thr	rs374349865	missense variant	-	NC_000009.12:g.87974407C>T	TOPMed
CDK20	Q8IZL9	p.His15Gln	rs138136908	missense variant	-	NC_000009.12:g.87974402G>T	ESP,ExAC,gnomAD
CDK20	Q8IZL9	p.Gly16Ser	rs1273700494	missense variant	-	NC_000009.12:g.87974401C>T	TOPMed
CDK20	Q8IZL9	p.Ile17Met	rs770438673	missense variant	-	NC_000009.12:g.87974396G>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Val18Ile	rs1201831713	missense variant	-	NC_000009.12:g.87974395C>T	TOPMed
CDK20	Q8IZL9	p.Val18Leu	rs1201831713	missense variant	-	NC_000009.12:g.87974395C>G	TOPMed
CDK20	Q8IZL9	p.Val18Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87974395C>A	NCI-TCGA
CDK20	Q8IZL9	p.Phe19Val	rs1162362522	missense variant	-	NC_000009.12:g.87974392A>C	gnomAD
CDK20	Q8IZL9	p.Lys20Gln	rs576385275	missense variant	-	NC_000009.12:g.87974389T>G	1000Genomes,ExAC,gnomAD
CDK20	Q8IZL9	p.Ala21Asp	rs1222205239	missense variant	-	NC_000009.12:g.87974385G>T	gnomAD
CDK20	Q8IZL9	p.Lys22Glu	rs1476829866	missense variant	-	NC_000009.12:g.87974383T>C	gnomAD
CDK20	Q8IZL9	p.His23Gln	rs754508521	missense variant	-	NC_000009.12:g.87974378G>T	ExAC,gnomAD
CDK20	Q8IZL9	p.His23Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87974380G>A	NCI-TCGA
CDK20	Q8IZL9	p.Glu25Gly	rs377600589	missense variant	-	NC_000009.12:g.87974373T>C	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu25Ala	rs377600589	missense variant	-	NC_000009.12:g.87974373T>G	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Thr26Ile	rs1434803675	missense variant	-	NC_000009.12:g.87974034G>A	gnomAD
CDK20	Q8IZL9	p.Thr26Ala	rs1314117680	missense variant	-	NC_000009.12:g.87974035T>C	gnomAD
CDK20	Q8IZL9	p.Glu28Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87974029C>T	NCI-TCGA
CDK20	Q8IZL9	p.Ile29Leu	rs761038829	missense variant	-	NC_000009.12:g.87974026T>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile29Val	rs761038829	missense variant	-	NC_000009.12:g.87974026T>C	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile29Met	rs1470987489	missense variant	-	NC_000009.12:g.87974024T>C	gnomAD
CDK20	Q8IZL9	p.Val30Gly	rs1222822557	missense variant	-	NC_000009.12:g.87974022A>C	TOPMed,gnomAD
CDK20	Q8IZL9	p.Val30Ala	rs1222822557	missense variant	-	NC_000009.12:g.87974022A>G	TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala31Val	rs956046565	missense variant	-	NC_000009.12:g.87974019G>A	gnomAD
CDK20	Q8IZL9	p.Lys34Glu	rs147786114	missense variant	-	NC_000009.12:g.87974011T>C	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Lys34Met	rs150114135	missense variant	-	NC_000009.12:g.87974010T>A	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Val35Ala	rs745580338	missense variant	-	NC_000009.12:g.87974007A>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu37Val	rs921913469	missense variant	-	NC_000009.12:g.87974002G>C	TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg39Gln	rs200054133	missense variant	-	NC_000009.12:g.87973995C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg39Trp	rs1242540614	missense variant	-	NC_000009.12:g.87973996G>A	gnomAD
CDK20	Q8IZL9	p.Arg39Pro	rs200054133	missense variant	-	NC_000009.12:g.87973995C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu40Phe	rs367666714	missense variant	-	NC_000009.12:g.87973991C>G	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp42His	rs1414815831	missense variant	-	NC_000009.12:g.87973987C>G	gnomAD
CDK20	Q8IZL9	p.Asp42Ala	rs750721533	missense variant	-	NC_000009.12:g.87973986T>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly43Arg	rs762065664	missense variant	-	NC_000009.12:g.87973984C>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly43Ser	rs762065664	missense variant	-	NC_000009.12:g.87973984C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Pro45His	rs1292559621	missense variant	-	NC_000009.12:g.87973977G>T	TOPMed
CDK20	Q8IZL9	p.Pro45Ser	rs1168708376	missense variant	-	NC_000009.12:g.87973978G>A	gnomAD
CDK20	Q8IZL9	p.Asn46Asp	rs531677791	missense variant	-	NC_000009.12:g.87973975T>C	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asn46His	rs531677791	missense variant	-	NC_000009.12:g.87973975T>G	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asn46Tyr	rs531677791	missense variant	-	NC_000009.12:g.87973975T>A	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gln47Glu	rs767111178	missense variant	-	NC_000009.12:g.87973972G>C	ExAC
CDK20	Q8IZL9	p.Ala48Thr	rs758966390	missense variant	-	NC_000009.12:g.87973969C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Ala48Val	rs1420584337	missense variant	-	NC_000009.12:g.87973968G>A	gnomAD
CDK20	Q8IZL9	p.Glu51Asp	rs150927336	missense variant	-	NC_000009.12:g.87973958C>G	ESP,TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu51Gly	rs770584509	missense variant	-	NC_000009.12:g.87973959T>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Lys53Glu	rs748890170	missense variant	-	NC_000009.12:g.87973954T>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Ala54Thr	rs773026901	missense variant	-	NC_000009.12:g.87973951C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala54Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87973951C>A	NCI-TCGA
CDK20	Q8IZL9	p.Leu55Val	rs769448515	missense variant	-	NC_000009.12:g.87973948G>C	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu55Pro	rs1354021079	missense variant	-	NC_000009.12:g.87973947A>G	TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu55Arg	rs1354021079	missense variant	-	NC_000009.12:g.87973947A>C	TOPMed,gnomAD
CDK20	Q8IZL9	p.Gln56Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.87973945G>A	NCI-TCGA
CDK20	Q8IZL9	p.Glu57Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.87973942C>A	NCI-TCGA
CDK20	Q8IZL9	p.Glu57Gln	rs748169751	missense variant	-	NC_000009.12:g.87973942C>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Met58Thr	rs754874964	missense variant	-	NC_000009.12:g.87973938A>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Met58Ile	rs375016648	missense variant	-	NC_000009.12:g.87973937C>T	ESP,ExAC,gnomAD
CDK20	Q8IZL9	p.Asp60Asn	rs562782648	missense variant	-	NC_000009.12:g.87973933C>T	1000Genomes,gnomAD
CDK20	Q8IZL9	p.Asn61His	rs757580504	missense variant	-	NC_000009.12:g.87973930T>G	ExAC
CDK20	Q8IZL9	p.Gln62Pro	rs1397098744	missense variant	-	NC_000009.12:g.87973926T>G	gnomAD
CDK20	Q8IZL9	p.Gln62Lys	rs754081326	missense variant	-	NC_000009.12:g.87973927G>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Tyr63Ter	rs747457856	stop gained	-	NC_000009.12:g.87973923dup	ExAC,TOPMed
CDK20	Q8IZL9	p.Val64Leu	rs769932384	missense variant	-	NC_000009.12:g.87971335C>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Val64Ala	rs973836002	missense variant	-	NC_000009.12:g.87971334A>G	gnomAD
CDK20	Q8IZL9	p.Val64Met	rs769932384	missense variant	-	NC_000009.12:g.87971335C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Val65Ala	rs781454036	missense variant	-	NC_000009.12:g.87971331A>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Val65Ile	rs748362044	missense variant	-	NC_000009.12:g.87971332C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Gln66Ter	rs1486384814	stop gained	-	NC_000009.12:g.87971329G>A	gnomAD
CDK20	Q8IZL9	p.Ala69Thr	rs755317703	missense variant	-	NC_000009.12:g.87971320C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala69Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87971319G>A	NCI-TCGA
CDK20	Q8IZL9	p.Ala69Gly	rs1314822169	missense variant	-	NC_000009.12:g.87971319G>C	gnomAD
CDK20	Q8IZL9	p.Val70Leu	rs752120731	missense variant	-	NC_000009.12:g.87971317C>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Phe71Leu	rs758842628	missense variant	-	NC_000009.12:g.87971312G>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Pro72Leu	rs1416947232	missense variant	-	NC_000009.12:g.87971310G>A	TOPMed
CDK20	Q8IZL9	p.His73Gln	rs9410653	missense variant	-	NC_000009.12:g.87971306G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.His73Arg	rs1416652579	missense variant	-	NC_000009.12:g.87971307T>C	gnomAD
CDK20	Q8IZL9	p.His73Tyr	rs749920703	missense variant	-	NC_000009.12:g.87971308G>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly74Asp	rs764037601	missense variant	-	NC_000009.12:g.87971304C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly74Ser	rs761408768	missense variant	-	NC_000009.12:g.87971305C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gly74Ala	rs764037601	missense variant	-	NC_000009.12:g.87971304C>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly75Arg	rs760540412	missense variant	-	NC_000009.12:g.87971302C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly76Asp	rs775356611	missense variant	-	NC_000009.12:g.87971298C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gly76Ser	rs1160950011	missense variant	-	NC_000009.12:g.87971299C>T	TOPMed,gnomAD
CDK20	Q8IZL9	p.Gly76Ala	rs775356611	missense variant	-	NC_000009.12:g.87971298C>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Val78Met	rs772151523	missense variant	-	NC_000009.12:g.87971293C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Val78Ala	rs759499348	missense variant	-	NC_000009.12:g.87971292A>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Leu79Met	rs769886503	missense variant	-	NC_000009.12:g.87971290G>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Phe81Leu	rs1348334911	missense variant	-	NC_000009.12:g.87971282A>C	TOPMed
CDK20	Q8IZL9	p.Phe81Leu	rs938184258	missense variant	-	NC_000009.12:g.87971284A>G	TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu82Asp	rs1321525635	missense variant	-	NC_000009.12:g.87971279C>G	gnomAD
CDK20	Q8IZL9	p.Phe83Leu	rs781467120	missense variant	-	NC_000009.12:g.87971278A>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Met84Lys	rs758932557	missense variant	-	NC_000009.12:g.87971274A>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Met84Thr	rs758932557	missense variant	-	NC_000009.12:g.87971274A>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Met84Val	rs143756400	missense variant	-	NC_000009.12:g.87971275T>C	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu85Pro	rs746350961	missense variant	-	NC_000009.12:g.87971271A>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Leu85Arg	rs746350961	missense variant	-	NC_000009.12:g.87971271A>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Leu85Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87971272G>T	NCI-TCGA
CDK20	Q8IZL9	p.Ser86Leu	rs28364953	missense variant	-	NC_000009.12:g.87971268G>A	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu88Arg	rs1162597946	missense variant	-	NC_000009.12:g.87971262A>C	gnomAD
CDK20	Q8IZL9	p.Ala89Asp	rs376766367	missense variant	-	NC_000009.12:g.87971259G>T	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala89Thr	rs763841221	missense variant	-	NC_000009.12:g.87971260C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Ala89Gly	rs376766367	missense variant	-	NC_000009.12:g.87971259G>C	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu90Lys	rs759432942	missense variant	-	NC_000009.12:g.87971257C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Val91Met	rs564653137	missense variant	-	NC_000009.12:g.87971254C>T	1000Genomes
CDK20	Q8IZL9	p.Val92Leu	rs200828251	missense variant	-	NC_000009.12:g.87971251C>A	1000Genomes,ExAC,gnomAD
CDK20	Q8IZL9	p.Arg93His	rs144310084	missense variant	-	NC_000009.12:g.87971247C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg93Cys	rs761951896	missense variant	-	NC_000009.12:g.87971248G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala95Val	rs768885451	missense variant	-	NC_000009.12:g.87971241G>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Gln96Glu	rs775868376	missense variant	-	NC_000009.12:g.87971239G>C	ExAC
CDK20	Q8IZL9	p.Arg97Lys	COSM3659383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87971235C>T	NCI-TCGA Cosmic
CDK20	Q8IZL9	p.Pro98Leu	rs772400848	missense variant	-	NC_000009.12:g.87971232G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gln101Pro	rs1167291350	missense variant	-	NC_000009.12:g.87971223T>G	gnomAD
CDK20	Q8IZL9	p.Gln101Ter	rs1395061297	stop gained	-	NC_000009.12:g.87971224G>A	gnomAD
CDK20	Q8IZL9	p.Gln103Arg	rs1460437228	missense variant	-	NC_000009.12:g.87971217T>C	gnomAD
CDK20	Q8IZL9	p.Val104Ile	rs892523635	missense variant	-	NC_000009.12:g.87971215C>T	TOPMed,gnomAD
CDK20	Q8IZL9	p.Lys105Arg	rs1374267547	missense variant	-	NC_000009.12:g.87971211T>C	TOPMed,gnomAD
CDK20	Q8IZL9	p.Lys105Asn	COSM1569882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87971210C>G	NCI-TCGA Cosmic
CDK20	Q8IZL9	p.Ser106Asn	rs41286029	missense variant	-	NC_000009.12:g.87971208C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ser106Asn	rs41286029	missense variant	-	NC_000009.12:g.87971208C>T	UniProt,dbSNP
CDK20	Q8IZL9	p.Ser106Asn	VAR_041957	missense variant	-	NC_000009.12:g.87971208C>T	UniProt
CDK20	Q8IZL9	p.Ser106Gly	rs200737032	missense variant	-	NC_000009.12:g.87971209T>C	1000Genomes
CDK20	Q8IZL9	p.Leu108Arg	rs757636291	missense variant	-	NC_000009.12:g.87971202A>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Gln109Arg	rs1250770459	missense variant	-	NC_000009.12:g.87971199T>C	gnomAD
CDK20	Q8IZL9	p.Met110Leu	rs965150299	missense variant	-	NC_000009.12:g.87971197T>A	TOPMed
CDK20	Q8IZL9	p.Met110Ile	rs748842542	missense variant	-	NC_000009.12:g.87971195C>T	ExAC
CDK20	Q8IZL9	p.Leu112Pro	rs777370245	missense variant	-	NC_000009.12:g.87971190A>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Leu112Phe	rs1336399418	missense variant	-	NC_000009.12:g.87971191G>A	gnomAD
CDK20	Q8IZL9	p.Lys113Gln	rs1394523485	missense variant	-	NC_000009.12:g.87971188T>G	TOPMed,gnomAD
CDK20	Q8IZL9	p.Lys113Asn	rs755864917	missense variant	-	NC_000009.12:g.87971186C>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gly114Asp	rs1194562233	missense variant	-	NC_000009.12:g.87971184C>T	gnomAD
CDK20	Q8IZL9	p.Gly114Ser	rs1455347024	missense variant	-	NC_000009.12:g.87971185C>T	TOPMed
CDK20	Q8IZL9	p.Val115Phe	rs752366494	missense variant	-	NC_000009.12:g.87971182C>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Ala116Thr	rs754792892	missense variant	-	NC_000009.12:g.87971179C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala120Asp	rs1305925018	missense variant	-	NC_000009.12:g.87971166G>T	gnomAD
CDK20	Q8IZL9	p.Asn121His	rs766346750	missense variant	-	NC_000009.12:g.87971164T>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Asn122Ile	rs762743425	missense variant	-	NC_000009.12:g.87971160T>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Ile123Thr	rs764125008	missense variant	-	NC_000009.12:g.87971157A>G	ExAC
CDK20	Q8IZL9	p.His125Tyr	rs1326708024	missense variant	-	NC_000009.12:g.87971152G>A	TOPMed
CDK20	Q8IZL9	p.His125Arg	rs1298196228	missense variant	-	NC_000009.12:g.87971151T>C	gnomAD
CDK20	Q8IZL9	p.His125Asn	rs1326708024	missense variant	-	NC_000009.12:g.87971152G>T	TOPMed
CDK20	Q8IZL9	p.Arg126Trp	rs760931795	missense variant	-	NC_000009.12:g.87971149G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg126Gln	rs200880555	missense variant	-	NC_000009.12:g.87971148C>T	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp127Asn	rs773843473	missense variant	-	NC_000009.12:g.87970897C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Pro130Ser	rs1353560932	missense variant	-	NC_000009.12:g.87970888G>A	gnomAD
CDK20	Q8IZL9	p.Ala131Thr	rs1294520351	missense variant	-	NC_000009.12:g.87970885C>T	gnomAD
CDK20	Q8IZL9	p.Ala131Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87970884G>A	NCI-TCGA
CDK20	Q8IZL9	p.Leu133Met	rs1414881460	missense variant	-	NC_000009.12:g.87970879G>T	gnomAD
CDK20	Q8IZL9	p.Ala137Thr	rs28364955	missense variant	-	NC_000009.12:g.87970867C>T	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ser138Leu	rs187262831	missense variant	-	NC_000009.12:g.87970863G>A	1000Genomes,ExAC,gnomAD
CDK20	Q8IZL9	p.Gly139Asp	rs758110676	missense variant	-	NC_000009.12:g.87970860C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly139Ser	rs779946018	missense variant	-	NC_000009.12:g.87970861C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Gln140Glu	rs778826223	missense variant	-	NC_000009.12:g.87970858G>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Gln140Lys	rs778826223	missense variant	-	NC_000009.12:g.87970858G>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Lys142Asn	rs563239873	missense variant	-	NC_000009.12:g.87970850C>A	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Lys142Asn	rs563239873	missense variant	-	NC_000009.12:g.87970850C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile143Val	rs752794930	missense variant	-	NC_000009.12:g.87970849T>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Ala144Val	rs759844599	missense variant	-	NC_000009.12:g.87970845G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala144Glu	rs759844599	missense variant	-	NC_000009.12:g.87970845G>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gly147Ala	rs1275000049	missense variant	-	NC_000009.12:g.87970836C>G	gnomAD
CDK20	Q8IZL9	p.Gly147Ser	rs1332515110	missense variant	-	NC_000009.12:g.87970837C>T	gnomAD
CDK20	Q8IZL9	p.Leu148Val	rs1233318712	missense variant	-	NC_000009.12:g.87970834G>C	gnomAD
CDK20	Q8IZL9	p.Arg150Gln	rs770440691	missense variant	-	NC_000009.12:g.87970827C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg150Pro	rs770440691	missense variant	-	NC_000009.12:g.87970827C>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg150Ter	rs773649314	stop gained	-	NC_000009.12:g.87970828G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ser153Phe	rs533645713	missense variant	-	NC_000009.12:g.87970818G>A	1000Genomes,ExAC
CDK20	Q8IZL9	p.Ser153Ala	rs1325567742	missense variant	-	NC_000009.12:g.87970819A>C	gnomAD
CDK20	Q8IZL9	p.Ser153ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.87970819_87970820AA>-	NCI-TCGA
CDK20	Q8IZL9	p.Pro154Ser	rs768026111	missense variant	-	NC_000009.12:g.87970816G>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Asp155Glu	rs371154514	missense variant	-	NC_000009.12:g.87970811G>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp155Glu	rs371154514	missense variant	-	NC_000009.12:g.87970811G>C	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp155His	rs1397276988	missense variant	-	NC_000009.12:g.87970813C>G	TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp155Gly	rs746728938	missense variant	-	NC_000009.12:g.87970812T>C	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gly156Ser	rs141798102	missense variant	-	NC_000009.12:g.87970810C>T	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ser157Gly	rs749193605	missense variant	-	NC_000009.12:g.87970807T>C	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ser157Asn	rs781383546	missense variant	-	NC_000009.12:g.87970806C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Arg158Cys	rs138173042	missense variant	-	NC_000009.12:g.87970804G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg158His	rs751877021	missense variant	-	NC_000009.12:g.87970803C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Leu159Val	rs1254699946	missense variant	-	NC_000009.12:g.87970801G>C	gnomAD
CDK20	Q8IZL9	p.Leu159Pro	rs1195717652	missense variant	-	NC_000009.12:g.87970800A>G	TOPMed
CDK20	Q8IZL9	p.Thr161Ile	rs1437223296	missense variant	-	NC_000009.12:g.87970794G>A	TOPMed,gnomAD
CDK20	Q8IZL9	p.His162Arg	rs1215815520	missense variant	-	NC_000009.12:g.87970791T>C	gnomAD
CDK20	Q8IZL9	p.His162Asn	rs1270263001	missense variant	-	NC_000009.12:g.87970792G>T	gnomAD
CDK20	Q8IZL9	p.His162Gln	rs376251813	missense variant	-	NC_000009.12:g.87970790G>C	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gln163His	rs1302278108	missense variant	-	NC_000009.12:g.87970787C>G	gnomAD
CDK20	Q8IZL9	p.Arg167Thr	rs750842971	missense variant	-	NC_000009.12:g.87970776C>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Trp168Ter	rs759237083	stop gained	-	NC_000009.12:g.87970627C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Arg170Gln	rs777935532	missense variant	-	NC_000009.12:g.87970622C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg170Ter	rs773980056	stop gained	-	NC_000009.12:g.87970623G>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Glu173Val	rs780324274	missense variant	-	NC_000009.12:g.87970613T>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Glu173Lys	rs748082212	missense variant	-	NC_000009.12:g.87970614C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Tyr176Phe	rs746155488	missense variant	-	NC_000009.12:g.87970604T>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Arg179His	rs565837414	missense variant	-	NC_000009.12:g.87970595C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg179Cys	rs138822378	missense variant	-	NC_000009.12:g.87970596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gly184Ser	rs1338441988	missense variant	-	NC_000009.12:g.87970581C>T	TOPMed,gnomAD
CDK20	Q8IZL9	p.Val185Ile	rs377248921	missense variant	-	NC_000009.12:g.87970578C>T	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Val185Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87970577A>G	NCI-TCGA
CDK20	Q8IZL9	p.Asp186Asn	rs1475919525	missense variant	-	NC_000009.12:g.87970575C>T	TOPMed,gnomAD
CDK20	Q8IZL9	p.Trp188Ter	rs753179373	stop gained	-	NC_000009.12:g.87970568C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Trp188Ser	rs753179373	missense variant	-	NC_000009.12:g.87970568C>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Trp188Arg	rs1256294519	missense variant	-	NC_000009.12:g.87970569A>G	gnomAD
CDK20	Q8IZL9	p.Trp188Cys	rs1057519438	missense variant	-	NC_000009.12:g.87969919C>G	gnomAD
CDK20	Q8IZL9	p.Trp188Ter	rs1057519438	stop gained	-	NC_000009.12:g.87969919C>T	gnomAD
CDK20	Q8IZL9	p.Ser189Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87969917G>A	NCI-TCGA
CDK20	Q8IZL9	p.Val190Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87969914A>G	NCI-TCGA
CDK20	Q8IZL9	p.Gly191Ser	rs527972382	missense variant	-	NC_000009.12:g.87969912C>T	1000Genomes,ExAC,gnomAD
CDK20	Q8IZL9	p.Cys192Tyr	rs1436726154	missense variant	-	NC_000009.12:g.87969908C>T	TOPMed
CDK20	Q8IZL9	p.Ile193Val	rs1295719575	missense variant	-	NC_000009.12:g.87969906T>C	TOPMed
CDK20	Q8IZL9	p.Met194Ile	rs764146080	missense variant	-	NC_000009.12:g.87969901C>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gly195Glu	rs572683683	missense variant	-	NC_000009.12:g.87969899C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Gly195Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87969899C>A	NCI-TCGA
CDK20	Q8IZL9	p.Glu196Gln	rs774612021	missense variant	-	NC_000009.12:g.87969897C>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Glu196Lys	rs774612021	missense variant	-	NC_000009.12:g.87969897C>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Asn199Lys	COSM1331452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969886A>C	NCI-TCGA Cosmic
CDK20	Q8IZL9	p.Gly200Ala	rs749529423	missense variant	-	NC_000009.12:g.87969884C>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly200Val	COSM1133848	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969884C>A	NCI-TCGA Cosmic
CDK20	Q8IZL9	p.Ser201Pro	rs1194111795	missense variant	-	NC_000009.12:g.87969882A>G	gnomAD
CDK20	Q8IZL9	p.Pro202Ser	rs568591129	missense variant	-	NC_000009.12:g.87969879G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu203Phe	rs1210421623	missense variant	-	NC_000009.12:g.87969876G>A	gnomAD
CDK20	Q8IZL9	p.Phe204Leu	rs745561217	missense variant	-	NC_000009.12:g.87969873A>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Phe204Leu	RCV000492039	missense variant	Global developmental delay (DD)	NC_000009.12:g.87969873A>G	ClinVar
CDK20	Q8IZL9	p.Pro205Leu	rs748528097	missense variant	-	NC_000009.12:g.87969869G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Pro205Ser	COSM3927183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969870G>A	NCI-TCGA Cosmic
CDK20	Q8IZL9	p.Gly206Cys	rs755513549	missense variant	-	NC_000009.12:g.87969867C>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Lys207Arg	rs531734804	missense variant	-	NC_000009.12:g.87969863T>C	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Lys207Asn	rs1351788453	missense variant	-	NC_000009.12:g.87969862C>A	gnomAD
CDK20	Q8IZL9	p.Asn208Lys	rs149053570	missense variant	-	NC_000009.12:g.87969859G>C	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp209Gly	rs764954066	missense variant	-	NC_000009.12:g.87969857T>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Asp209Asn	rs749832611	missense variant	-	NC_000009.12:g.87969858C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile210Val	rs1466904395	missense variant	-	NC_000009.12:g.87969855T>C	gnomAD
CDK20	Q8IZL9	p.Glu211Ter	rs756918547	stop gained	-	NC_000009.12:g.87969852C>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu211Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87969852C>T	NCI-TCGA
CDK20	Q8IZL9	p.Gln212Ter	rs753715827	stop gained	-	NC_000009.12:g.87969849G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Tyr215Asn	rs1187315434	missense variant	-	NC_000009.12:g.87969840A>T	gnomAD
CDK20	Q8IZL9	p.Tyr215His	rs1187315434	missense variant	-	NC_000009.12:g.87969840A>G	gnomAD
CDK20	Q8IZL9	p.Val216Met	rs760742770	missense variant	-	NC_000009.12:g.87969837C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg218His	rs150288403	missense variant	-	NC_000009.12:g.87969830C>T	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg218Cys	rs137929831	missense variant	-	NC_000009.12:g.87969831G>A	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile219Leu	rs1299372843	missense variant	-	NC_000009.12:g.87969828T>G	TOPMed
CDK20	Q8IZL9	p.Gly221Asp	rs1331145578	missense variant	-	NC_000009.12:g.87969821C>T	gnomAD
CDK20	Q8IZL9	p.Pro223Leu	rs773109910	missense variant	-	NC_000009.12:g.87969815G>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Pro223Ala	rs1398668804	missense variant	-	NC_000009.12:g.87969816G>C	TOPMed
CDK20	Q8IZL9	p.Pro225Ser	rs748332147	missense variant	-	NC_000009.12:g.87969810G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Pro225Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87969809G>A	NCI-TCGA
CDK20	Q8IZL9	p.Val227Ile	rs893580258	missense variant	-	NC_000009.12:g.87969804C>T	gnomAD
CDK20	Q8IZL9	p.Trp228Arg	rs1384681039	missense variant	-	NC_000009.12:g.87969801A>G	TOPMed,gnomAD
CDK20	Q8IZL9	p.Pro229Gln	rs545862742	missense variant	-	NC_000009.12:g.87969797G>T	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Pro229Leu	rs545862742	missense variant	-	NC_000009.12:g.87969797G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu230Lys	rs1243307343	missense variant	-	NC_000009.12:g.87969349C>T	TOPMed
CDK20	Q8IZL9	p.Glu230Gly	rs201816662	missense variant	-	NC_000009.12:g.87969348T>C	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu231Ile	COSM3732153	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969346G>T	NCI-TCGA Cosmic
CDK20	Q8IZL9	p.Thr232Asn	rs1409489670	missense variant	-	NC_000009.12:g.87969342G>T	gnomAD
CDK20	Q8IZL9	p.Pro235Leu	rs186722916	missense variant	-	NC_000009.12:g.87969333G>A	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp236Glu	rs1248406478	missense variant	-	NC_000009.12:g.87969329G>T	gnomAD
CDK20	Q8IZL9	p.Tyr237Ter	rs1198899030	stop gained	-	NC_000009.12:g.87969326G>T	TOPMed,gnomAD
CDK20	Q8IZL9	p.Asn238Ser	rs536801172	missense variant	-	NC_000009.12:g.87969324T>C	gnomAD
CDK20	Q8IZL9	p.Lys239Gln	rs1240327568	missense variant	-	NC_000009.12:g.87969322T>G	gnomAD
CDK20	Q8IZL9	p.Ser241Phe	COSM3659373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.87969315G>A	NCI-TCGA Cosmic
CDK20	Q8IZL9	p.Lys243Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87969308C>G	NCI-TCGA
CDK20	Q8IZL9	p.Met248Thr	rs1279989830	missense variant	-	NC_000009.12:g.87969294A>G	gnomAD
CDK20	Q8IZL9	p.Met248Val	rs775960700	missense variant	-	NC_000009.12:g.87969295T>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Glu251Ala	rs774994161	missense variant	-	NC_000009.12:g.87969285T>G	ExAC,TOPMed
CDK20	Q8IZL9	p.Glu251Gln	rs1275933824	missense variant	-	NC_000009.12:g.87969286C>G	gnomAD
CDK20	Q8IZL9	p.Glu252Val	rs748821346	missense variant	-	NC_000009.12:g.87969282T>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu252Asp	rs777370060	missense variant	-	NC_000009.12:g.87969281C>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Val253Met	rs1403719210	missense variant	-	NC_000009.12:g.87969280C>T	TOPMed
CDK20	Q8IZL9	p.Val253Glu	rs1430565408	missense variant	-	NC_000009.12:g.87969279A>T	gnomAD
CDK20	Q8IZL9	p.Leu254Val	rs1172727847	missense variant	-	NC_000009.12:g.87969277G>C	gnomAD
CDK20	Q8IZL9	p.Leu254Arg	rs1412573237	missense variant	-	NC_000009.12:g.87969276A>C	TOPMed,gnomAD
CDK20	Q8IZL9	p.Val257Ala	rs1469615212	missense variant	-	NC_000009.12:g.87969267A>G	TOPMed,gnomAD
CDK20	Q8IZL9	p.Val257Ile	rs140721514	missense variant	-	NC_000009.12:g.87969268C>T	ESP,ExAC,gnomAD
CDK20	Q8IZL9	p.Pro259Leu	rs371639597	missense variant	-	NC_000009.12:g.87969261G>A	ESP,TOPMed
CDK20	Q8IZL9	p.Pro259Ser	rs947488512	missense variant	-	NC_000009.12:g.87969262G>A	TOPMed
CDK20	Q8IZL9	p.Ala261Val	rs779975575	missense variant	-	NC_000009.12:g.87969255G>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Ala261Ser	rs182185602	missense variant	-	NC_000009.12:g.87969256C>A	1000Genomes,gnomAD
CDK20	Q8IZL9	p.Ala261Thr	rs182185602	missense variant	-	NC_000009.12:g.87969256C>T	1000Genomes,gnomAD
CDK20	Q8IZL9	p.Leu262Trp	rs1314290992	missense variant	-	NC_000009.12:g.87969252A>C	gnomAD
CDK20	Q8IZL9	p.Asp263His	rs1279856968	missense variant	-	NC_000009.12:g.87969250C>G	TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp263Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87969250C>A	NCI-TCGA
CDK20	Q8IZL9	p.Leu264Met	rs1223713527	missense variant	-	NC_000009.12:g.87969247G>T	gnomAD
CDK20	Q8IZL9	p.Gln267Pro	rs561972246	missense variant	-	NC_000009.12:g.87969237T>G	1000Genomes
CDK20	Q8IZL9	p.Gln267Glu	rs758278980	missense variant	-	NC_000009.12:g.87969238G>C	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Phe268Leu	rs1290224899	missense variant	-	NC_000009.12:g.87969235A>G	gnomAD
CDK20	Q8IZL9	p.Phe268Leu	rs1410536674	missense variant	-	NC_000009.12:g.87969233G>T	gnomAD
CDK20	Q8IZL9	p.Leu270Ile	rs764125059	missense variant	-	NC_000009.12:g.87969229G>T	ExAC,gnomAD
CDK20	Q8IZL9	p.Tyr271His	rs756406227	missense variant	-	NC_000009.12:g.87969226A>G	ExAC,gnomAD
CDK20	Q8IZL9	p.His274Gln	rs1358019762	missense variant	-	NC_000009.12:g.87969215G>T	TOPMed,gnomAD
CDK20	Q8IZL9	p.Gln275His	rs923818970	missense variant	-	NC_000009.12:g.87969212C>G	gnomAD
CDK20	Q8IZL9	p.Arg276Cys	rs767990766	missense variant	-	NC_000009.12:g.87969211G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg276His	rs369652911	missense variant	-	NC_000009.12:g.87969210C>T	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile277Val	rs146863842	missense variant	-	NC_000009.12:g.87969208T>C	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala278Thr	rs542111446	missense variant	-	NC_000009.12:g.87969205C>T	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ser280Phe	rs1179745276	missense variant	-	NC_000009.12:g.87969198G>A	TOPMed,gnomAD
CDK20	Q8IZL9	p.Lys281Glu	rs372790696	missense variant	-	NC_000009.12:g.87969196T>C	ESP,ExAC,gnomAD
CDK20	Q8IZL9	p.Lys281Arg	rs28364963	missense variant	-	NC_000009.12:g.87969195T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Lys281Arg	rs28364963	missense variant	-	NC_000009.12:g.87969195T>C	UniProt,dbSNP
CDK20	Q8IZL9	p.Lys281Arg	VAR_024764	missense variant	-	NC_000009.12:g.87969195T>C	UniProt
CDK20	Q8IZL9	p.Lys281Asn	rs562649016	missense variant	-	NC_000009.12:g.87969194C>G	1000Genomes,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala282Gly	rs1468477682	missense variant	-	NC_000009.12:g.87967658G>C	gnomAD
CDK20	Q8IZL9	p.Tyr287Cys	rs1263687427	missense variant	-	NC_000009.12:g.87967643T>C	TOPMed,gnomAD
CDK20	Q8IZL9	p.Phe288Leu	rs1187037434	missense variant	-	NC_000009.12:g.87967641A>G	TOPMed
CDK20	Q8IZL9	p.Thr290Arg	rs1322515496	missense variant	-	NC_000009.12:g.87967634G>C	gnomAD
CDK20	Q8IZL9	p.Ala291Val	rs1226530747	missense variant	-	NC_000009.12:g.87967631G>A	gnomAD
CDK20	Q8IZL9	p.Ala291Thr	rs1295088084	missense variant	-	NC_000009.12:g.87967632C>T	gnomAD
CDK20	Q8IZL9	p.Pro292Leu	rs967065854	missense variant	-	NC_000009.12:g.87967628G>A	TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu293Pro	rs1165551222	missense variant	-	NC_000009.12:g.87967625A>G	TOPMed
CDK20	Q8IZL9	p.Pro294Leu	rs1389943445	missense variant	-	NC_000009.12:g.87967622G>A	gnomAD
CDK20	Q8IZL9	p.Ala295Thr	rs949364041	missense variant	-	NC_000009.12:g.87967620C>T	TOPMed,gnomAD
CDK20	Q8IZL9	p.His296Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.87967617G>A	NCI-TCGA
CDK20	Q8IZL9	p.Ser298Pro	rs1350000332	missense variant	-	NC_000009.12:g.87967611A>G	gnomAD
CDK20	Q8IZL9	p.Ser298Cys	rs1014017495	missense variant	-	NC_000009.12:g.87967610G>C	TOPMed
CDK20	Q8IZL9	p.Leu300Pro	rs894292510	missense variant	-	NC_000009.12:g.87967604A>G	TOPMed
CDK20	Q8IZL9	p.Pro301Leu	rs761237402	missense variant	-	NC_000009.12:g.87967601G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile302Thr	rs1246540845	missense variant	-	NC_000009.12:g.87967598A>G	TOPMed
CDK20	Q8IZL9	p.Arg305Cys	rs992747412	missense variant	-	NC_000009.12:g.87967590G>A	TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg305Gly	rs992747412	missense variant	-	NC_000009.12:g.87967590G>C	TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg305His	rs376253655	missense variant	-	NC_000009.12:g.87967589C>T	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Leu306Pro	rs768220194	missense variant	-	NC_000009.12:g.87967586A>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly307Arg	rs546834228	missense variant	-	NC_000009.12:g.87967584C>G	1000Genomes,ExAC,gnomAD
CDK20	Q8IZL9	p.Gly308Glu	rs536058766	missense variant	-	NC_000009.12:g.87967580C>T	1000Genomes,TOPMed
CDK20	Q8IZL9	p.Gly308Val	rs536058766	missense variant	-	NC_000009.12:g.87967580C>A	1000Genomes,TOPMed
CDK20	Q8IZL9	p.Pro309Thr	rs1203283437	missense variant	-	NC_000009.12:g.87967578G>T	TOPMed,gnomAD
CDK20	Q8IZL9	p.Ala310Ser	rs1344592835	missense variant	-	NC_000009.12:g.87967575C>A	gnomAD
CDK20	Q8IZL9	p.Pro311Ser	rs1276442620	missense variant	-	NC_000009.12:g.87967572G>A	gnomAD
CDK20	Q8IZL9	p.Lys312ArgPheSerTerUnkUnk	COSM5359074	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.87967570G>-	NCI-TCGA Cosmic
CDK20	Q8IZL9	p.Ala313Thr	rs1330406038	missense variant	-	NC_000009.12:g.87967566C>T	gnomAD
CDK20	Q8IZL9	p.Ala313Val	rs771839370	missense variant	-	NC_000009.12:g.87967565G>A	ExAC,gnomAD
CDK20	Q8IZL9	p.His314Asp	rs1367679044	missense variant	-	NC_000009.12:g.87967563G>C	gnomAD
CDK20	Q8IZL9	p.Pro317Thr	rs1411967033	missense variant	-	NC_000009.12:g.87967554G>T	gnomAD
CDK20	Q8IZL9	p.Pro318Arg	rs1047026908	missense variant	-	NC_000009.12:g.87967550G>C	TOPMed
CDK20	Q8IZL9	p.His319Asp	rs151084868	missense variant	-	NC_000009.12:g.87967548G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.His319Tyr	rs151084868	missense variant	-	NC_000009.12:g.87967548G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.His319Asn	rs151084868	missense variant	-	NC_000009.12:g.87967548G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.His319ThrPheSerTerUnkUnk	rs67862915	frameshift	-	NC_000009.12:g.87967548G>-	NCI-TCGA,NCI-TCGA Cosmic
CDK20	Q8IZL9	p.Asp322Val	rs1465830604	missense variant	-	NC_000009.12:g.87967538T>A	gnomAD
CDK20	Q8IZL9	p.Phe323Leu	rs755195947	missense variant	-	NC_000009.12:g.87967534G>C	ExAC,gnomAD
CDK20	Q8IZL9	p.His324Tyr	rs911387002	missense variant	-	NC_000009.12:g.87967533G>A	TOPMed,gnomAD
CDK20	Q8IZL9	p.His324Leu	rs751810960	missense variant	-	NC_000009.12:g.87967532T>A	ExAC,gnomAD
CDK20	Q8IZL9	p.Val325Leu	rs56736734	missense variant	-	NC_000009.12:g.87967530C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Val325Met	rs56736734	missense variant	-	NC_000009.12:g.87967530C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asp326His	rs1252848084	missense variant	-	NC_000009.12:g.87967527C>G	gnomAD
CDK20	Q8IZL9	p.Asp326Gly	rs1192063245	missense variant	-	NC_000009.12:g.87967526T>C	gnomAD
CDK20	Q8IZL9	p.Arg327Trp	rs750753248	missense variant	-	NC_000009.12:g.87967524G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg327Gln	rs1254082419	missense variant	-	NC_000009.12:g.87967523C>T	gnomAD
CDK20	Q8IZL9	p.Pro328Leu	rs1206372928	missense variant	-	NC_000009.12:g.87967520G>A	TOPMed
CDK20	Q8IZL9	p.Leu329Ile	rs1235319450	missense variant	-	NC_000009.12:g.87967518G>T	gnomAD
CDK20	Q8IZL9	p.Glu330Gln	rs765679617	missense variant	-	NC_000009.12:g.87967515C>G	ExAC
CDK20	Q8IZL9	p.Glu331Lys	rs762337811	missense variant	-	NC_000009.12:g.87967512C>T	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu331Ter	rs762337811	stop gained	-	NC_000009.12:g.87967512C>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Glu331Ala	rs753325373	missense variant	-	NC_000009.12:g.87967511T>G	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ser332Leu	rs148526196	missense variant	-	NC_000009.12:g.87967508G>A	ESP,ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Asn335Ser	rs774986947	missense variant	-	NC_000009.12:g.87967499T>C	ExAC,gnomAD
CDK20	Q8IZL9	p.Arg340Gln	rs753328488	missense variant	-	NC_000009.12:g.87967484C>T	TOPMed,gnomAD
CDK20	Q8IZL9	p.Arg340Trp	rs759457795	missense variant	-	NC_000009.12:g.87967485G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Pro341Ser	rs200199265	missense variant	-	NC_000009.12:g.87967482G>A	ExAC,TOPMed,gnomAD
CDK20	Q8IZL9	p.Ile343Leu	rs1412854696	missense variant	-	NC_000009.12:g.87967476T>G	gnomAD
CDK20	Q8IZL9	p.Glu345Ala	rs749137955	missense variant	-	NC_000009.12:g.87967469T>G	ExAC,gnomAD
CDK20	Q8IZL9	p.Gly346Glu	rs370501448	missense variant	-	NC_000009.12:g.87967466C>T	ESP,TOPMed,gnomAD
RDH10	Q8IZV5	p.Ile3Phe	rs1257557137	missense variant	-	NC_000008.11:g.73295296A>T	gnomAD
RDH10	Q8IZV5	p.Ile3Thr	rs1397684527	missense variant	-	NC_000008.11:g.73295297T>C	gnomAD
RDH10	Q8IZV5	p.Val4Met	rs780951408	missense variant	-	NC_000008.11:g.73295299G>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Val5Ala	rs773336664	missense variant	-	NC_000008.11:g.73295303T>C	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Val5Leu	rs769369174	missense variant	-	NC_000008.11:g.73295302G>C	ExAC,gnomAD
RDH10	Q8IZV5	p.Glu6Asp	rs749230554	missense variant	-	NC_000008.11:g.73295307G>T	ExAC,gnomAD
RDH10	Q8IZV5	p.Glu6Gly	rs1172340226	missense variant	-	NC_000008.11:g.73295306A>G	gnomAD
RDH10	Q8IZV5	p.Val9Met	rs867212084	missense variant	-	NC_000008.11:g.73295314G>A	TOPMed,gnomAD
RDH10	Q8IZV5	p.Val9Leu	rs867212084	missense variant	-	NC_000008.11:g.73295314G>T	TOPMed,gnomAD
RDH10	Q8IZV5	p.Val9Ala	rs1428738168	missense variant	-	NC_000008.11:g.73295315T>C	gnomAD
RDH10	Q8IZV5	p.Val9Leu	rs867212084	missense variant	-	NC_000008.11:g.73295314G>C	TOPMed,gnomAD
RDH10	Q8IZV5	p.Thr11Ile	rs1270058134	missense variant	-	NC_000008.11:g.73295321C>T	TOPMed,gnomAD
RDH10	Q8IZV5	p.Phe12Ser	rs770812328	missense variant	-	NC_000008.11:g.73295324T>C	ExAC,gnomAD
RDH10	Q8IZV5	p.Phe12Leu	rs774039054	missense variant	-	NC_000008.11:g.73295325C>A	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Lys13Arg	rs759338480	missense variant	-	NC_000008.11:g.73295327A>G	ExAC,gnomAD
RDH10	Q8IZV5	p.Val14Met	rs1347652724	missense variant	-	NC_000008.11:g.73295329G>A	gnomAD
RDH10	Q8IZV5	p.Val19Leu	rs1190485689	missense variant	-	NC_000008.11:g.73295344G>T	TOPMed,gnomAD
RDH10	Q8IZV5	p.Val19Met	rs1190485689	missense variant	-	NC_000008.11:g.73295344G>A	TOPMed,gnomAD
RDH10	Q8IZV5	p.Ala21Val	rs768766057	missense variant	-	NC_000008.11:g.73295351C>T	ExAC,gnomAD
RDH10	Q8IZV5	p.Ala22Val	rs1370557423	missense variant	-	NC_000008.11:g.73295354C>T	gnomAD
RDH10	Q8IZV5	p.Arg24Gly	rs1021188367	missense variant	-	NC_000008.11:g.73295359C>G	TOPMed,gnomAD
RDH10	Q8IZV5	p.Val27Met	rs533195986	missense variant	-	NC_000008.11:g.73295368G>A	1000Genomes,ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Arg28Trp	rs1174433789	missense variant	-	NC_000008.11:g.73295371C>T	gnomAD
RDH10	Q8IZV5	p.Arg28Pro	rs1390959398	missense variant	-	NC_000008.11:g.73295372G>C	TOPMed
RDH10	Q8IZV5	p.Pro29Leu	rs1168223467	missense variant	-	NC_000008.11:g.73295375C>T	TOPMed
RDH10	Q8IZV5	p.Lys30Arg	rs1399017399	missense variant	-	NC_000008.11:g.73295378A>G	gnomAD
RDH10	Q8IZV5	p.Glu31Asp	rs1346277234	missense variant	-	NC_000008.11:g.73295382G>C	gnomAD
RDH10	Q8IZV5	p.Gln37Arg	rs1301381317	missense variant	-	NC_000008.11:g.73295399A>G	gnomAD
RDH10	Q8IZV5	p.Leu40Phe	rs112690392	missense variant	-	NC_000008.11:g.73295407C>T	gnomAD
RDH10	Q8IZV5	p.Leu40Val	rs112690392	missense variant	-	NC_000008.11:g.73295407C>G	gnomAD
RDH10	Q8IZV5	p.Ile41Val	rs1415742333	missense variant	-	NC_000008.11:g.73295410A>G	TOPMed
RDH10	Q8IZV5	p.Ala44Gly	rs1206589757	missense variant	-	NC_000008.11:g.73295420C>G	TOPMed
RDH10	Q8IZV5	p.Arg50Leu	rs1224840565	missense variant	-	NC_000008.11:g.73295438G>T	TOPMed
RDH10	Q8IZV5	p.Phe52Leu	rs755300818	missense variant	-	NC_000008.11:g.73295445C>G	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Arg59His	rs1447105996	missense variant	-	NC_000008.11:g.73295465G>A	gnomAD
RDH10	Q8IZV5	p.Ile68Val	rs1379574486	missense variant	-	NC_000008.11:g.73295491A>G	gnomAD
RDH10	Q8IZV5	p.Thr70Ala	rs1468835590	missense variant	-	NC_000008.11:g.73295497A>G	gnomAD
RDH10	Q8IZV5	p.Gly78Asp	rs867559240	missense variant	-	NC_000008.11:g.73295522G>A	TOPMed,gnomAD
RDH10	Q8IZV5	p.Gly78Val	rs867559240	missense variant	-	NC_000008.11:g.73295522G>T	TOPMed,gnomAD
RDH10	Q8IZV5	p.Arg81Cys	rs1415500519	missense variant	-	NC_000008.11:g.73295530C>T	TOPMed
RDH10	Q8IZV5	p.Tyr84Cys	rs1402539012	missense variant	-	NC_000008.11:g.73295540A>G	gnomAD
RDH10	Q8IZV5	p.Arg85Ser	rs1394484494	missense variant	-	NC_000008.11:g.73295542C>A	gnomAD
RDH10	Q8IZV5	p.Asp86Asn	rs1250496717	missense variant	-	NC_000008.11:g.73295545G>A	TOPMed
RDH10	Q8IZV5	p.Glu88Lys	rs771306889	missense variant	-	NC_000008.11:g.73295551G>A	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Ala89Ser	rs1236379418	missense variant	-	NC_000008.11:g.73295554G>T	gnomAD
RDH10	Q8IZV5	p.Ala90Thr	rs1278611059	missense variant	-	NC_000008.11:g.73295557G>A	gnomAD
RDH10	Q8IZV5	p.Asp91Asn	rs1229701671	missense variant	-	NC_000008.11:g.73295560G>A	gnomAD
RDH10	Q8IZV5	p.Leu95Pro	rs1214058857	missense variant	-	NC_000008.11:g.73295573T>C	gnomAD
RDH10	Q8IZV5	p.Leu95Val	rs1334637507	missense variant	-	NC_000008.11:g.73295572C>G	TOPMed
RDH10	Q8IZV5	p.Ala97Pro	rs1230814069	missense variant	-	NC_000008.11:g.73295578G>C	TOPMed
RDH10	Q8IZV5	p.Glu101Gly	rs1370763586	missense variant	-	NC_000008.11:g.73297206A>G	gnomAD
RDH10	Q8IZV5	p.Glu103Lys	rs556672044	missense variant	-	NC_000008.11:g.73297211G>A	1000Genomes,ExAC,gnomAD
RDH10	Q8IZV5	p.Glu103Ala	rs771894802	missense variant	-	NC_000008.11:g.73297212A>C	ExAC,gnomAD
RDH10	Q8IZV5	p.Glu103Gly	rs771894802	missense variant	-	NC_000008.11:g.73297212A>G	ExAC,gnomAD
RDH10	Q8IZV5	p.Glu103Asp	COSM1101557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297213A>C	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Leu105Gln	rs1414872613	missense variant	-	NC_000008.11:g.73297218T>A	gnomAD
RDH10	Q8IZV5	p.Pro106His	rs1324680102	missense variant	-	NC_000008.11:g.73297221C>A	gnomAD
RDH10	Q8IZV5	p.Pro106Leu	COSM3650824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297221C>T	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Pro106Ser	COSM1101558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297220C>T	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.His107Asn	rs770032148	missense variant	-	NC_000008.11:g.73297223C>A	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.His107Tyr	rs770032148	missense variant	-	NC_000008.11:g.73297223C>T	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Cys108Arg	rs145171413	missense variant	-	NC_000008.11:g.73297226T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Cys108Gly	rs145171413	missense variant	-	NC_000008.11:g.73297226T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Asn109Ser	rs1279891122	missense variant	-	NC_000008.11:g.73297230A>G	gnomAD
RDH10	Q8IZV5	p.Asn109Ile	rs1279891122	missense variant	-	NC_000008.11:g.73297230A>T	gnomAD
RDH10	Q8IZV5	p.Asn109Asp	rs774783285	missense variant	-	NC_000008.11:g.73297229A>G	ExAC,gnomAD
RDH10	Q8IZV5	p.Asn109Lys	rs760053367	missense variant	-	NC_000008.11:g.73297231C>G	ExAC,gnomAD
RDH10	Q8IZV5	p.Gln111Pro	rs776033179	missense variant	-	NC_000008.11:g.73297236A>C	ExAC,gnomAD
RDH10	Q8IZV5	p.Phe113Tyr	rs761056077	missense variant	-	NC_000008.11:g.73297242T>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Asn124Lys	rs764773069	missense variant	-	NC_000008.11:g.73297276C>G	ExAC,gnomAD
RDH10	Q8IZV5	p.Val125Ile	rs758352706	missense variant	-	NC_000008.11:g.73297277G>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Thr128Met	rs1382657995	missense variant	-	NC_000008.11:g.73297287C>T	gnomAD
RDH10	Q8IZV5	p.Glu130Lys	rs1296232402	missense variant	-	NC_000008.11:g.73297292G>A	gnomAD
RDH10	Q8IZV5	p.Val132Ala	rs1436935711	missense variant	-	NC_000008.11:g.73297299T>C	TOPMed,gnomAD
RDH10	Q8IZV5	p.Val132Asp	COSM751821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297299T>A	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Arg133His	rs1316129347	missense variant	-	NC_000008.11:g.73297302G>A	TOPMed
RDH10	Q8IZV5	p.Arg133Cys	rs754709622	missense variant	-	NC_000008.11:g.73297301C>T	ExAC,gnomAD
RDH10	Q8IZV5	p.Lys134Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73297305A>T	NCI-TCGA
RDH10	Q8IZV5	p.Glu135Lys	rs944302467	missense variant	-	NC_000008.11:g.73297307G>A	TOPMed
RDH10	Q8IZV5	p.Val136Phe	rs749516657	missense variant	-	NC_000008.11:g.73297310G>T	ExAC
RDH10	Q8IZV5	p.Glu138Lys	rs190882720	missense variant	-	NC_000008.11:g.73297316G>A	1000Genomes,ExAC,gnomAD
RDH10	Q8IZV5	p.Val143Ile	rs1259079034	missense variant	-	NC_000008.11:g.73297331G>A	gnomAD
RDH10	Q8IZV5	p.Ser150Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73297352T>C	NCI-TCGA
RDH10	Q8IZV5	p.His173Asn	rs1464064107	missense variant	-	NC_000008.11:g.73297421C>A	TOPMed
RDH10	Q8IZV5	p.His173Tyr	COSM3901494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73297421C>T	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Thr183Met	rs762042478	missense variant	-	NC_000008.11:g.73319118C>T	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Glu186Ala	rs1310116206	missense variant	-	NC_000008.11:g.73319127A>C	gnomAD
RDH10	Q8IZV5	p.Glu186Gln	COSM3779350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73319126G>C	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Ser198Ala	rs1285293062	missense variant	-	NC_000008.11:g.73319162T>G	gnomAD
RDH10	Q8IZV5	p.Leu199Phe	rs1213153197	missense variant	-	NC_000008.11:g.73319167G>C	gnomAD
RDH10	Q8IZV5	p.Leu199Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73319167G>T	NCI-TCGA
RDH10	Q8IZV5	p.Ser203Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73319177A>G	NCI-TCGA
RDH10	Q8IZV5	p.Ala205Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73319183G>T	NCI-TCGA
RDH10	Q8IZV5	p.Gly206Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73319186G>A	NCI-TCGA
RDH10	Q8IZV5	p.Val207Ile	rs1272790543	missense variant	-	NC_000008.11:g.73319189G>A	gnomAD
RDH10	Q8IZV5	p.Glu208Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73319192G>A	NCI-TCGA
RDH10	Q8IZV5	p.Asp209His	rs762557242	missense variant	-	NC_000008.11:g.73320932G>C	ExAC,gnomAD
RDH10	Q8IZV5	p.Lys214Glu	rs1199360293	missense variant	-	NC_000008.11:g.73320947A>G	gnomAD
RDH10	Q8IZV5	p.Glu227Lys	COSM3779351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73320986G>A	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Leu228Ile	rs1213492883	missense variant	-	NC_000008.11:g.73320989C>A	gnomAD
RDH10	Q8IZV5	p.Leu228Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73320990T>G	NCI-TCGA
RDH10	Q8IZV5	p.Lys229Arg	rs973578810	missense variant	-	NC_000008.11:g.73320993A>G	TOPMed
RDH10	Q8IZV5	p.Ala230Thr	rs1247354058	missense variant	-	NC_000008.11:g.73320995G>A	gnomAD
RDH10	Q8IZV5	p.Ala231Thr	rs758906627	missense variant	-	NC_000008.11:g.73320998G>A	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Ala231Val	rs1338693025	missense variant	-	NC_000008.11:g.73320999C>T	gnomAD
RDH10	Q8IZV5	p.Glu232Gly	rs920379933	missense variant	-	NC_000008.11:g.73321002A>G	gnomAD
RDH10	Q8IZV5	p.Gly235Ala	COSM3901495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73321011G>C	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Ile236Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73321014T>A	NCI-TCGA
RDH10	Q8IZV5	p.Val241Ile	rs752567318	missense variant	-	NC_000008.11:g.73321028G>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Tyr244Cys	COSM4932114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73321038A>G	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Leu245Phe	rs1427297238	missense variant	-	NC_000008.11:g.73321040C>T	TOPMed,gnomAD
RDH10	Q8IZV5	p.Met250Val	rs1399039554	missense variant	-	NC_000008.11:g.73321055A>G	gnomAD
RDH10	Q8IZV5	p.Cys254Trp	rs760588808	missense variant	-	NC_000008.11:g.73321069C>G	ExAC,gnomAD
RDH10	Q8IZV5	p.Arg255Gln	rs950256022	missense variant	-	NC_000008.11:g.73321071G>A	TOPMed,gnomAD
RDH10	Q8IZV5	p.Arg255Ter	COSM1101562	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.73321070C>T	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Arg257Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73321076A>G	NCI-TCGA
RDH10	Q8IZV5	p.Lys258Glu	rs563952870	missense variant	-	NC_000008.11:g.73322680A>G	1000Genomes,ExAC,gnomAD
RDH10	Q8IZV5	p.Glu259Ter	COSM1101563	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.73322683G>T	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Ile260Thr	rs1009581987	missense variant	-	NC_000008.11:g.73322687T>C	TOPMed
RDH10	Q8IZV5	p.Ile260Val	rs771788342	missense variant	-	NC_000008.11:g.73322686A>G	gnomAD
RDH10	Q8IZV5	p.Ile260Met	rs1368646440	missense variant	-	NC_000008.11:g.73322688T>G	gnomAD
RDH10	Q8IZV5	p.Ile260Phe	rs771788342	missense variant	-	NC_000008.11:g.73322686A>T	gnomAD
RDH10	Q8IZV5	p.Pro262His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73322693C>A	NCI-TCGA
RDH10	Q8IZV5	p.Phe263Leu	rs531103692	missense variant	-	NC_000008.11:g.73322697T>A	1000Genomes,ExAC,gnomAD
RDH10	Q8IZV5	p.Pro265Ser	rs1349973397	missense variant	-	NC_000008.11:g.73322701C>T	gnomAD
RDH10	Q8IZV5	p.Pro266His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73322705C>A	NCI-TCGA
RDH10	Q8IZV5	p.Tyr271Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73322720A>T	NCI-TCGA
RDH10	Q8IZV5	p.Lys274Asn	rs1270578090	missense variant	-	NC_000008.11:g.73322730G>T	gnomAD
RDH10	Q8IZV5	p.Gln275Glu	rs1333140987	missense variant	-	NC_000008.11:g.73322731C>G	gnomAD
RDH10	Q8IZV5	p.Gln275Pro	rs1221366050	missense variant	-	NC_000008.11:g.73322732A>C	gnomAD
RDH10	Q8IZV5	p.Met277Val	rs1019217425	missense variant	-	NC_000008.11:g.73322737A>G	TOPMed
RDH10	Q8IZV5	p.Lys278Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73322742G>T	NCI-TCGA
RDH10	Q8IZV5	p.Leu281Pro	rs1488623669	missense variant	-	NC_000008.11:g.73322750T>C	gnomAD
RDH10	Q8IZV5	p.Leu281Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73322749C>A	NCI-TCGA
RDH10	Q8IZV5	p.Pro285Ser	rs1248929043	missense variant	-	NC_000008.11:g.73322761C>T	gnomAD
RDH10	Q8IZV5	p.Pro285Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73322762C>T	NCI-TCGA
RDH10	Q8IZV5	p.Met286Val	COSM1101564	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322764A>G	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Ile287Met	COSM4835244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322769C>G	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Arg291Cys	rs1210602500	missense variant	-	NC_000008.11:g.73322779C>T	TOPMed
RDH10	Q8IZV5	p.Arg291His	rs752747246	missense variant	-	NC_000008.11:g.73322780G>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Arg291Leu	COSM6181549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322780G>T	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Met293Thr	rs1350655030	missense variant	-	NC_000008.11:g.73322786T>C	gnomAD
RDH10	Q8IZV5	p.Met293Val	rs1163872682	missense variant	-	NC_000008.11:g.73322785A>G	gnomAD
RDH10	Q8IZV5	p.Tyr294Cys	rs1368522051	missense variant	-	NC_000008.11:g.73322789A>G	gnomAD
RDH10	Q8IZV5	p.Ile295Met	rs756117140	missense variant	-	NC_000008.11:g.73322793C>G	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Val296Met	rs74821757	missense variant	-	NC_000008.11:g.73322794G>A	1000Genomes,ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Val296Ala	rs1369953562	missense variant	-	NC_000008.11:g.73322795T>C	gnomAD
RDH10	Q8IZV5	p.Lys300Asn	COSM3779352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322808G>C	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Ile302Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73322914A>G	NCI-TCGA
RDH10	Q8IZV5	p.Phe305Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.73322923T>G	NCI-TCGA
RDH10	Q8IZV5	p.Val308Ile	rs775770627	missense variant	-	NC_000008.11:g.73322932G>A	ExAC
RDH10	Q8IZV5	p.Cys310Ser	rs760815013	missense variant	-	NC_000008.11:g.73322939G>C	ExAC,TOPMed,gnomAD
RDH10	Q8IZV5	p.Met311Ile	rs764131251	missense variant	-	NC_000008.11:g.73322943G>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Arg313Trp	rs1228455605	missense variant	-	NC_000008.11:g.73322947C>T	gnomAD
RDH10	Q8IZV5	p.Arg313Gln	rs754396419	missense variant	-	NC_000008.11:g.73322948G>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Lys319Glu	COSM267324	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322965A>G	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Gln327Lys	rs750758856	missense variant	-	NC_000008.11:g.73322989C>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Arg328Lys	rs758733414	missense variant	-	NC_000008.11:g.73322993G>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Arg328Ser	rs1186493564	missense variant	-	NC_000008.11:g.73322994A>C	gnomAD
RDH10	Q8IZV5	p.Arg328Ile	COSM3835008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.73322993G>T	NCI-TCGA Cosmic
RDH10	Q8IZV5	p.Lys329Asn	rs779629054	missense variant	-	NC_000008.11:g.73322997G>C	ExAC,gnomAD
RDH10	Q8IZV5	p.Gln330Glu	rs754573984	missense variant	-	NC_000008.11:g.73322998C>G	ExAC,gnomAD
RDH10	Q8IZV5	p.Gln330Lys	rs754573984	missense variant	-	NC_000008.11:g.73322998C>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Ala331Asp	rs201868320	missense variant	-	NC_000008.11:g.73323002C>A	ExAC,gnomAD
RDH10	Q8IZV5	p.Asn333Lys	rs1413985262	missense variant	-	NC_000008.11:g.73323009C>A	gnomAD
RDH10	Q8IZV5	p.Asn334Lys	rs1177423874	missense variant	-	NC_000008.11:g.73323012T>A	gnomAD
RDH10	Q8IZV5	p.Asn335Lys	rs1361470732	missense variant	-	NC_000008.11:g.73323015T>A	gnomAD
RDH10	Q8IZV5	p.Glu336Lys	rs1433319993	missense variant	-	NC_000008.11:g.73323016G>A	gnomAD
RDH10	Q8IZV5	p.Ala337Glu	rs1435292027	missense variant	-	NC_000008.11:g.73323020C>A	gnomAD
RDH10	Q8IZV5	p.Ala337Thr	rs1366415775	missense variant	-	NC_000008.11:g.73323019G>A	gnomAD
RDH10	Q8IZV5	p.Asn339Thr	rs777696135	missense variant	-	NC_000008.11:g.73323026A>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Glu2Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523446A>G	NCI-TCGA
PRSS35	Q8N3Z0	p.Asn3Ser	rs368986869	missense variant	-	NC_000006.12:g.83523449A>G	ESP,ExAC
PRSS35	Q8N3Z0	p.Asn3Tyr	rs1230429981	missense variant	-	NC_000006.12:g.83523448A>T	TOPMed
PRSS35	Q8N3Z0	p.Met4Ile	rs745442961	missense variant	-	NC_000006.12:g.83523453G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Leu5Pro	rs1326556100	missense variant	-	NC_000006.12:g.83523455T>C	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Trp7Ter	rs540921970	stop gained	-	NC_000006.12:g.83523462G>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Trp7Leu	rs942802064	missense variant	-	NC_000006.12:g.83523461G>T	TOPMed
PRSS35	Q8N3Z0	p.Trp7Cys	rs540921970	missense variant	-	NC_000006.12:g.83523462G>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Trp7Ter	rs540921970	stop gained	-	NC_000006.12:g.83523462G>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Ile9Thr	rs1342714338	missense variant	-	NC_000006.12:g.83523467T>C	TOPMed
PRSS35	Q8N3Z0	p.Ile9Met	rs1335285517	missense variant	-	NC_000006.12:g.83523468A>G	TOPMed
PRSS35	Q8N3Z0	p.Phe10Ser	rs538170279	missense variant	-	NC_000006.12:g.83523470T>C	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Phe11Ser	rs1442395152	missense variant	-	NC_000006.12:g.83523473T>C	gnomAD
PRSS35	Q8N3Z0	p.Phe11Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523472T>G	NCI-TCGA
PRSS35	Q8N3Z0	p.Thr12Ile	rs372948717	missense variant	-	NC_000006.12:g.83523476C>T	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Thr12Asn	rs372948717	missense variant	-	NC_000006.12:g.83523476C>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro13Thr	rs992724872	missense variant	-	NC_000006.12:g.83523478C>A	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly14Glu	rs1334326979	missense variant	-	NC_000006.12:g.83523482G>A	TOPMed
PRSS35	Q8N3Z0	p.Thr16Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523487A>G	NCI-TCGA
PRSS35	Q8N3Z0	p.Ile18Thr	rs1481534780	missense variant	-	NC_000006.12:g.83523494T>C	gnomAD
PRSS35	Q8N3Z0	p.Ser21Thr	rs766481718	missense variant	-	NC_000006.12:g.83523502T>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Glu22Gln	rs751533715	missense variant	-	NC_000006.12:g.83523505G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Glu22Gln	rs751533715	missense variant	-	NC_000006.12:g.83523505G>C	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Trp25Gly	rs755245905	missense variant	-	NC_000006.12:g.83523514T>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Trp25Arg	rs755245905	missense variant	-	NC_000006.12:g.83523514T>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp26Tyr	rs767591823	missense variant	-	NC_000006.12:g.83523517G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Met28Leu	rs753686080	missense variant	-	NC_000006.12:g.83523523A>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Met28Leu	rs753686080	missense variant	-	NC_000006.12:g.83523523A>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg32Ser	rs757036453	missense variant	-	NC_000006.12:g.83523537A>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg32Ter	COSM3928636	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83523535A>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Lys33Asn	rs1326278120	missense variant	-	NC_000006.12:g.83523540G>C	gnomAD
PRSS35	Q8N3Z0	p.Val34Leu	rs778891581	missense variant	-	NC_000006.12:g.83523541G>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro35Arg	rs745812378	missense variant	-	NC_000006.12:g.83523545C>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg36Trp	rs554557790	missense variant	-	NC_000006.12:g.83523547C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg36Gly	rs554557790	missense variant	-	NC_000006.12:g.83523547C>G	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg36Gln	rs186993743	missense variant	-	NC_000006.12:g.83523548G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg36Gln	rs186993743	missense variant	-	NC_000006.12:g.83523548G>A	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Ile37Thr	rs201322773	missense variant	-	NC_000006.12:g.83523551T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Glu40Ter	rs1343496105	stop gained	-	NC_000006.12:g.83523559G>T	gnomAD
PRSS35	Q8N3Z0	p.Arg41Ser	rs553841861	missense variant	-	NC_000006.12:g.83523564G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg41Ser	rs553841861	missense variant	-	NC_000006.12:g.83523564G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Thr42Ala	rs1272546287	missense variant	-	NC_000006.12:g.83523565A>G	gnomAD
PRSS35	Q8N3Z0	p.Thr42Ile	rs776400556	missense variant	-	NC_000006.12:g.83523566C>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Phe43Leu	rs748580488	missense variant	-	NC_000006.12:g.83523570C>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.His44Pro	rs1246294380	missense variant	-	NC_000006.12:g.83523572A>C	gnomAD
PRSS35	Q8N3Z0	p.Leu45His	rs1245840041	missense variant	-	NC_000006.12:g.83523575T>A	TOPMed
PRSS35	Q8N3Z0	p.Ser47Asn	rs201064274	missense variant	-	NC_000006.12:g.83523581G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro48Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523584C>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Ala49Glu	rs545419681	missense variant	-	NC_000006.12:g.83523587C>A	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Ala49Ser	rs763565235	missense variant	-	NC_000006.12:g.83523586G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Ala49Thr	rs763565235	missense variant	-	NC_000006.12:g.83523586G>A	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Ala49Thr	rs763565235	missense variant	-	NC_000006.12:g.83523586G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Phe50Ser	rs1323828411	missense variant	-	NC_000006.12:g.83523590T>C	gnomAD
PRSS35	Q8N3Z0	p.Ala52Val	rs774517165	missense variant	-	NC_000006.12:g.83523596C>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ala52Thr	COSM1082076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523595G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Asp53His	rs759516573	missense variant	-	NC_000006.12:g.83523598G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp53His	rs759516573	missense variant	-	NC_000006.12:g.83523598G>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Ala54Gly	rs372906386	missense variant	-	NC_000006.12:g.83523602C>G	ESP,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Ala54Val	COSM72311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523602C>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Lys55Thr	rs1228274183	missense variant	-	NC_000006.12:g.83523605A>C	gnomAD
PRSS35	Q8N3Z0	p.Met56Thr	rs189815403	missense variant	-	NC_000006.12:g.83523608T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Met56Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523607A>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Met57Leu	rs1210449909	missense variant	-	NC_000006.12:g.83523610A>T	gnomAD
PRSS35	Q8N3Z0	p.Met57Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523612G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Thr60Lys	rs750171997	missense variant	-	NC_000006.12:g.83523620C>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Thr60Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523620C>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Val61Met	rs1261125580	missense variant	-	NC_000006.12:g.83523622G>A	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Cys62Ter	rs544542764	stop gained	-	NC_000006.12:g.83523627T>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Cys62Tyr	rs1249636289	missense variant	-	NC_000006.12:g.83523626G>A	gnomAD
PRSS35	Q8N3Z0	p.Cys62TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.83523622_83523623GT>-	NCI-TCGA
PRSS35	Q8N3Z0	p.Cys62Ter	rs544542764	stop gained	-	NC_000006.12:g.83523627T>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Glu65Lys	rs746577637	missense variant	-	NC_000006.12:g.83523634G>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Glu65Lys	rs746577637	missense variant	-	NC_000006.12:g.83523634G>A	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Glu65Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.83523634G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Cys66Arg	rs1163330471	missense variant	-	NC_000006.12:g.83523637T>C	gnomAD
PRSS35	Q8N3Z0	p.Gln67His	rs754432342	missense variant	-	NC_000006.12:g.83523642G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Glu69Gly	rs1450339161	missense variant	-	NC_000006.12:g.83523647A>G	TOPMed
PRSS35	Q8N3Z0	p.Glu69Ter	COSM3875829	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83523646G>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Pro71Leu	rs573801680	missense variant	-	NC_000006.12:g.83523653C>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro71Arg	rs573801680	missense variant	-	NC_000006.12:g.83523653C>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Thr72Ile	rs370844141	missense variant	-	NC_000006.12:g.83523656C>T	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro73Arg	rs749572009	missense variant	-	NC_000006.12:g.83523659C>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro73Leu	rs749572009	missense variant	-	NC_000006.12:g.83523659C>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro73Ser	rs374565969	missense variant	-	NC_000006.12:g.83523658C>T	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Leu75Phe	rs774711692	missense variant	-	NC_000006.12:g.83523664C>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Glu77Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.83523670G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Glu79Ala	rs772146213	missense variant	-	NC_000006.12:g.83523677A>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp80Gly	rs775494109	missense variant	-	NC_000006.12:g.83523680A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp80Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523681T>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Tyr81His	rs960761155	missense variant	-	NC_000006.12:g.83523682T>C	TOPMed
PRSS35	Q8N3Z0	p.Tyr81Phe	rs760911168	missense variant	-	NC_000006.12:g.83523683A>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Leu82Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523685C>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Tyr84His	rs764263693	missense variant	-	NC_000006.12:g.83523691T>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Tyr84Cys	rs750259734	missense variant	-	NC_000006.12:g.83523692A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Glu85Lys	rs1269272109	missense variant	-	NC_000006.12:g.83523694G>A	TOPMed
PRSS35	Q8N3Z0	p.Glu89Asp	rs1207812392	missense variant	-	NC_000006.12:g.83523708G>C	gnomAD
PRSS35	Q8N3Z0	p.Gly91Asp	rs762634774	missense variant	-	NC_000006.12:g.83523713G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg93Ter	rs182508722	stop gained	-	NC_000006.12:g.83523718C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg93Gln	rs532622580	missense variant	-	NC_000006.12:g.83523719G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg93Gln	rs532622580	missense variant	-	NC_000006.12:g.83523719G>A	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Thr94Ile	rs1160956206	missense variant	-	NC_000006.12:g.83523722C>T	gnomAD
PRSS35	Q8N3Z0	p.Thr94Asn	rs1160956206	missense variant	-	NC_000006.12:g.83523722C>A	gnomAD
PRSS35	Q8N3Z0	p.Leu95Ile	COSM1082077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523724T>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Thr96Pro	rs1457048733	missense variant	-	NC_000006.12:g.83523727A>C	gnomAD
PRSS35	Q8N3Z0	p.Arg97Met	rs1318950636	missense variant	-	NC_000006.12:g.83523731G>T	gnomAD
PRSS35	Q8N3Z0	p.Arg97Thr	rs1318950636	missense variant	-	NC_000006.12:g.83523731G>C	gnomAD
PRSS35	Q8N3Z0	p.Gln101Arg	rs1333634046	missense variant	-	NC_000006.12:g.83523743A>G	gnomAD
PRSS35	Q8N3Z0	p.Asp102Tyr	COSM1446170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523745G>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Leu103Met	rs1338805284	missense variant	-	NC_000006.12:g.83523748T>A	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Leu103Val	rs1338805284	missense variant	-	NC_000006.12:g.83523748T>G	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Glu106Lys	rs771200055	missense variant	-	NC_000006.12:g.83523757G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Pro107Leu	rs1289228843	missense variant	-	NC_000006.12:g.83523761C>T	gnomAD
PRSS35	Q8N3Z0	p.Pro107Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523761C>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Thr108Asn	rs1227625320	missense variant	-	NC_000006.12:g.83523764C>A	gnomAD
PRSS35	Q8N3Z0	p.Asn110Ser	rs1347091650	missense variant	-	NC_000006.12:g.83523770A>G	gnomAD
PRSS35	Q8N3Z0	p.Asn110Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523770A>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Ile111Thr	rs746378261	missense variant	-	NC_000006.12:g.83523773T>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Thr112Asn	rs1479107979	missense variant	-	NC_000006.12:g.83523776C>A	TOPMed
PRSS35	Q8N3Z0	p.Lys114Arg	rs775580002	missense variant	-	NC_000006.12:g.83523782A>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Lys114Asn	rs1183630609	missense variant	-	NC_000006.12:g.83523783G>T	gnomAD
PRSS35	Q8N3Z0	p.Gly115Ala	rs1252173827	missense variant	-	NC_000006.12:g.83523785G>C	gnomAD
PRSS35	Q8N3Z0	p.Gly115Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523785G>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Gly115GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.83523783G>-	NCI-TCGA
PRSS35	Q8N3Z0	p.Val116Leu	rs201992952	missense variant	-	NC_000006.12:g.83523787G>T	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Val116Ala	rs1157462463	missense variant	-	NC_000006.12:g.83523788T>C	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Val116Ile	rs201992952	missense variant	-	NC_000006.12:g.83523787G>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ser117Pro	rs1206457223	missense variant	-	NC_000006.12:g.83523790T>C	TOPMed
PRSS35	Q8N3Z0	p.Val118Ile	rs1379700440	missense variant	-	NC_000006.12:g.83523793G>A	gnomAD
PRSS35	Q8N3Z0	p.Gln123His	rs1172523957	missense variant	-	NC_000006.12:g.83523810G>C	gnomAD
PRSS35	Q8N3Z0	p.Val124Met	rs1271264519	missense variant	-	NC_000006.12:g.83523811G>A	TOPMed
PRSS35	Q8N3Z0	p.Gly126Cys	rs1411821003	missense variant	-	NC_000006.12:g.83523817G>T	gnomAD
PRSS35	Q8N3Z0	p.Gly126Asp	COSM1446172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83523818G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Thr127Ser	rs776704051	missense variant	-	NC_000006.12:g.83523821C>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Thr127Ile	rs776704051	missense variant	-	NC_000006.12:g.83523821C>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp128Asn	rs1408200027	missense variant	-	NC_000006.12:g.83523823G>A	gnomAD
PRSS35	Q8N3Z0	p.Asp128Asn	rs1408200027	missense variant	-	NC_000006.12:g.83523823G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg130Gly	rs1303628797	missense variant	-	NC_000006.12:g.83523829A>G	gnomAD
PRSS35	Q8N3Z0	p.Ser132Asn	rs762872101	missense variant	-	NC_000006.12:g.83523836G>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ile133Thr	rs766090161	missense variant	-	NC_000006.12:g.83523839T>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Ile133Met	rs751308720	missense variant	-	NC_000006.12:g.83523840C>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Ile133Thr	rs766090161	missense variant	-	NC_000006.12:g.83523839T>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Ile133Cys	NCI-TCGA novel	insertion	-	NC_000006.12:g.83523841_83523842insGCC	NCI-TCGA
PRSS35	Q8N3Z0	p.Leu134Phe	NCI-TCGA novel	inframe deletion	-	NC_000006.12:g.83523843_83523845GGA>-	NCI-TCGA
PRSS35	Q8N3Z0	p.Arg137Lys	rs148479497	missense variant	-	NC_000006.12:g.83523851G>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg137Thr	rs148479497	missense variant	-	NC_000006.12:g.83523851G>C	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg137Met	rs148479497	missense variant	-	NC_000006.12:g.83523851G>T	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Thr140Ile	rs925817659	missense variant	-	NC_000006.12:g.83523860C>T	gnomAD
PRSS35	Q8N3Z0	p.Asn141Lys	rs1268958775	missense variant	-	NC_000006.12:g.83523864T>G	gnomAD
PRSS35	Q8N3Z0	p.Phe142Ile	rs753441856	missense variant	-	NC_000006.12:g.83523865T>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Phe142Leu	rs753415172	missense variant	-	NC_000006.12:g.83523867C>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Phe142Leu	rs753415172	missense variant	-	NC_000006.12:g.83523867C>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Phe144Tyr	rs147194232	missense variant	-	NC_000006.12:g.83523872T>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ser145Gly	rs746203891	missense variant	-	NC_000006.12:g.83523874A>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Thr146Ile	rs1169351727	missense variant	-	NC_000006.12:g.83523878C>T	gnomAD
PRSS35	Q8N3Z0	p.Val148Gly	rs1223183627	missense variant	-	NC_000006.12:g.83523884T>G	gnomAD
PRSS35	Q8N3Z0	p.Lys149Arg	rs1426215507	missense variant	-	NC_000006.12:g.83523887A>G	TOPMed
PRSS35	Q8N3Z0	p.Ser151Pro	rs1370066011	missense variant	-	NC_000006.12:g.83523892T>C	gnomAD
PRSS35	Q8N3Z0	p.Ser151Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523893C>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Thr152Ser	rs1175978569	missense variant	-	NC_000006.12:g.83523895A>T	TOPMed
PRSS35	Q8N3Z0	p.Thr152Met	rs758944799	missense variant	-	NC_000006.12:g.83523896C>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly153Asp	rs140464540	missense variant	-	NC_000006.12:g.83523899G>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly153Ser	rs769151148	missense variant	-	NC_000006.12:g.83523898G>A	TOPMed
PRSS35	Q8N3Z0	p.Cys154Tyr	rs747151838	missense variant	-	NC_000006.12:g.83523902G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Cys154Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523902G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Ser155Asn	rs768715990	missense variant	-	NC_000006.12:g.83523905G>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly156Ala	rs538240358	missense variant	-	NC_000006.12:g.83523908G>C	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly156Asp	rs538240358	missense variant	-	NC_000006.12:g.83523908G>A	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Ile157Thr	rs1340866721	missense variant	-	NC_000006.12:g.83523911T>C	gnomAD
PRSS35	Q8N3Z0	p.Ile159Val	rs1201749180	missense variant	-	NC_000006.12:g.83523916A>G	gnomAD
PRSS35	Q8N3Z0	p.Ser160Thr	rs770008879	missense variant	-	NC_000006.12:g.83523919T>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gln162Arg	rs774042219	missense variant	-	NC_000006.12:g.83523926A>G	ExAC
PRSS35	Q8N3Z0	p.Gln162Ter	COSM3831127	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83523925C>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.His163Tyr	rs759370340	missense variant	-	NC_000006.12:g.83523928C>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.His163Gln	rs767609442	missense variant	-	NC_000006.12:g.83523930T>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Val164Gly	rs1265672536	missense variant	-	NC_000006.12:g.83523932T>G	gnomAD
PRSS35	Q8N3Z0	p.Ala167Val	rs781669584	missense variant	-	NC_000006.12:g.83523941C>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ala167Gly	rs781669584	missense variant	-	NC_000006.12:g.83523941C>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.His169Pro	rs1390037209	missense variant	-	NC_000006.12:g.83523947A>C	gnomAD
PRSS35	Q8N3Z0	p.Val171Ala	rs1447738605	missense variant	-	NC_000006.12:g.83523953T>C	gnomAD
PRSS35	Q8N3Z0	p.Asp173Val	rs895584525	missense variant	-	NC_000006.12:g.83523959A>T	TOPMed
PRSS35	Q8N3Z0	p.Lys175Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523966G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Asp176Asn	rs151268050	missense variant	-	NC_000006.12:g.83523967G>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Val178Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523974T>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Gly180Arg	rs568224541	missense variant	-	NC_000006.12:g.83523979G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly180Arg	rs568224541	missense variant	-	NC_000006.12:g.83523979G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys182Thr	rs747518209	missense variant	-	NC_000006.12:g.83523986A>C	ExAC
PRSS35	Q8N3Z0	p.Leu184Val	rs898683633	missense variant	-	NC_000006.12:g.83523991C>G	gnomAD
PRSS35	Q8N3Z0	p.Arg185Lys	rs1263690781	missense variant	-	NC_000006.12:g.83523995G>A	gnomAD
PRSS35	Q8N3Z0	p.Arg185Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83523996G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Val186Ala	rs1243654325	missense variant	-	NC_000006.12:g.83523998T>C	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly187Arg	rs748215132	missense variant	-	NC_000006.12:g.83524000G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Lys190Asn	COSM6107647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524011G>C	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Met191Val	rs769944948	missense variant	-	NC_000006.12:g.83524012A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Met191Leu	rs769944948	missense variant	-	NC_000006.12:g.83524012A>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg192Lys	rs1196920196	missense variant	-	NC_000006.12:g.83524016G>A	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys194Glu	rs1248020826	missense variant	-	NC_000006.12:g.83524021A>G	gnomAD
PRSS35	Q8N3Z0	p.Lys194Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524022A>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Ser195Gly	rs1468386667	missense variant	-	NC_000006.12:g.83524024A>G	TOPMed
PRSS35	Q8N3Z0	p.Ser195Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524026T>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Ser195Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524024A>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Gly197Ala	rs773458529	missense variant	-	NC_000006.12:g.83524031G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg200His	rs772000403	missense variant	-	NC_000006.12:g.83524040G>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg201Gln	rs1162970042	missense variant	-	NC_000006.12:g.83524043G>A	gnomAD
PRSS35	Q8N3Z0	p.Arg201Ter	rs867533390	stop gained	-	NC_000006.12:g.83524042C>T	gnomAD
PRSS35	Q8N3Z0	p.Ser203Pro	rs200711692	missense variant	-	NC_000006.12:g.83524048T>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ser203Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524049C>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Lys204Glu	rs769211650	missense variant	-	NC_000006.12:g.83524051A>G	TOPMed
PRSS35	Q8N3Z0	p.Lys204Ter	rs769211650	stop gained	-	NC_000006.12:g.83524051A>T	TOPMed
PRSS35	Q8N3Z0	p.Ser206Thr	rs1013622028	missense variant	-	NC_000006.12:g.83524058G>C	gnomAD
PRSS35	Q8N3Z0	p.Ser206Arg	rs776045199	missense variant	-	NC_000006.12:g.83524059C>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ala210Thr	rs761363640	missense variant	-	NC_000006.12:g.83524069G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Ala210Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524069G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Ser211Asn	rs1394888623	missense variant	-	NC_000006.12:g.83524073G>A	gnomAD
PRSS35	Q8N3Z0	p.Ser211Asn	rs1394888623	missense variant	-	NC_000006.12:g.83524073G>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Gly212Asp	rs187744330	missense variant	-	NC_000006.12:g.83524076G>A	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly212Cys	rs764857769	missense variant	-	NC_000006.12:g.83524075G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly213Cys	rs757978416	missense variant	-	NC_000006.12:g.83524078G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly213AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.83524078_83524079insATATT	NCI-TCGA
PRSS35	Q8N3Z0	p.Gly213Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524079G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Arg216Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524088G>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Glu217Asp	rs139270767	missense variant	-	NC_000006.12:g.83524092G>C	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly218Asp	rs1315704508	missense variant	-	NC_000006.12:g.83524094G>A	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly218Cys	COSM1329528	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524093G>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Thr219Ile	rs755469848	missense variant	-	NC_000006.12:g.83524097C>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Thr219Ser	rs541267616	missense variant	-	NC_000006.12:g.83524096A>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Thr219Ala	rs541267616	missense variant	-	NC_000006.12:g.83524096A>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg220Ser	rs752765181	missense variant	-	NC_000006.12:g.83524101A>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg220Gly	rs781699594	missense variant	-	NC_000006.12:g.83524099A>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Glu221Lys	rs367751854	missense variant	-	NC_000006.12:g.83524102G>A	ESP,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Glu221Gly	rs1159689072	missense variant	-	NC_000006.12:g.83524103A>G	gnomAD
PRSS35	Q8N3Z0	p.Glu221Ter	COSM742995	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83524102G>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.His222Arg	rs777920968	missense variant	-	NC_000006.12:g.83524106A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.His222Gln	rs1398690988	missense variant	-	NC_000006.12:g.83524107T>G	gnomAD
PRSS35	Q8N3Z0	p.Leu223Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524109T>G	NCI-TCGA
PRSS35	Q8N3Z0	p.Arg224Gln	rs504593	missense variant	-	NC_000006.12:g.83524112G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Glu225Asp	rs955444017	missense variant	-	NC_000006.12:g.83524116G>C	TOPMed
PRSS35	Q8N3Z0	p.Arg226Thr	rs202236574	missense variant	-	NC_000006.12:g.83524118G>C	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Ala227Val	rs375371522	missense variant	-	NC_000006.12:g.83524121C>T	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ala227Glu	rs375371522	missense variant	-	NC_000006.12:g.83524121C>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys228Glu	rs368256706	missense variant	-	NC_000006.12:g.83524123A>G	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly229Val	rs1383290895	missense variant	-	NC_000006.12:g.83524127G>T	TOPMed
PRSS35	Q8N3Z0	p.Arg232Ile	rs776619054	missense variant	-	NC_000006.12:g.83524136G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg232Lys	rs776619054	missense variant	-	NC_000006.12:g.83524136G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg233Ile	COSM3430912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524139G>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Lys235Thr	rs1287277897	missense variant	-	NC_000006.12:g.83524145A>C	gnomAD
PRSS35	Q8N3Z0	p.Lys235Gln	COSM276923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524144A>C	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Ser236Phe	rs145431726	missense variant	-	NC_000006.12:g.83524148C>T	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ser236Tyr	rs145431726	missense variant	-	NC_000006.12:g.83524148C>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ser236Phe	rs145431726	missense variant	-	NC_000006.12:g.83524148C>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Gly237Ala	rs1289649864	missense variant	-	NC_000006.12:g.83524151G>C	TOPMed
PRSS35	Q8N3Z0	p.Arg238Trp	rs769349887	missense variant	-	NC_000006.12:g.83524153C>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg238Gln	rs147359174	missense variant	-	NC_000006.12:g.83524154G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg238Trp	rs769349887	missense variant	-	NC_000006.12:g.83524153C>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Gly239Cys	rs555827964	missense variant	-	NC_000006.12:g.83524156G>T	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly239Arg	rs555827964	missense variant	-	NC_000006.12:g.83524156G>C	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly239Asp	rs575677083	missense variant	-	NC_000006.12:g.83524157G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ala243Thr	rs1167587579	missense variant	-	NC_000006.12:g.83524168G>A	TOPMed
PRSS35	Q8N3Z0	p.Glu244Lys	rs541411659	missense variant	-	NC_000006.12:g.83524171G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Glu244Lys	rs541411659	missense variant	-	NC_000006.12:g.83524171G>A	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Gly245Trp	rs778024616	missense variant	-	NC_000006.12:g.83524174G>T	ExAC
PRSS35	Q8N3Z0	p.Gly245Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524175G>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Ser248Pro	rs973324121	missense variant	-	NC_000006.12:g.83524183T>C	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Phe249Cys	rs1171242271	missense variant	-	NC_000006.12:g.83524187T>G	gnomAD
PRSS35	Q8N3Z0	p.Gln250Pro	rs746859209	missense variant	-	NC_000006.12:g.83524190A>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gln250Arg	rs746859209	missense variant	-	NC_000006.12:g.83524190A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Trp251Ter	rs780784760	stop gained	-	NC_000006.12:g.83524194G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Trp251Arg	rs185512193	missense variant	-	NC_000006.12:g.83524192T>C	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Trp251Leu	rs1307037596	missense variant	-	NC_000006.12:g.83524193G>T	gnomAD
PRSS35	Q8N3Z0	p.Trp251Arg	rs185512193	missense variant	-	NC_000006.12:g.83524192T>C	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg253Trp	rs1263494157	missense variant	-	NC_000006.12:g.83524198C>T	TOPMed
PRSS35	Q8N3Z0	p.Arg253Gln	rs748129041	missense variant	-	NC_000006.12:g.83524199G>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg253Trp	rs1263494157	missense variant	-	NC_000006.12:g.83524198C>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg253Pro	rs748129041	missense variant	-	NC_000006.12:g.83524199G>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg253Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524199G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Lys255Thr	rs1258386849	missense variant	-	NC_000006.12:g.83524205A>C	TOPMed
PRSS35	Q8N3Z0	p.His258Tyr	rs920527432	missense variant	-	NC_000006.12:g.83524213C>T	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro260Arg	rs141429310	missense variant	-	NC_000006.12:g.83524220C>G	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro260Leu	rs141429310	missense variant	-	NC_000006.12:g.83524220C>T	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro260Leu	rs141429310	missense variant	-	NC_000006.12:g.83524220C>T	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Trp263Ter	rs1232786321	stop gained	-	NC_000006.12:g.83524229G>A	gnomAD
PRSS35	Q8N3Z0	p.Trp263Ter	rs770615324	stop gained	-	NC_000006.12:g.83524230G>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Trp263Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524229G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Ala264Val	rs1342981248	missense variant	-	NC_000006.12:g.83524232C>T	gnomAD
PRSS35	Q8N3Z0	p.Arg265Gln	rs574996749	missense variant	-	NC_000006.12:g.83524235G>A	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg265Ter	rs773975931	stop gained	-	NC_000006.12:g.83524234C>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg265Gln	rs574996749	missense variant	-	NC_000006.12:g.83524235G>A	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg265Ter	rs773975931	stop gained	-	NC_000006.12:g.83524234C>T	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg265Leu	rs574996749	missense variant	-	NC_000006.12:g.83524235G>T	1000Genomes,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly266Glu	rs1367084252	missense variant	-	NC_000006.12:g.83524238G>A	TOPMed
PRSS35	Q8N3Z0	p.Gly269Val	rs748866087	missense variant	-	NC_000006.12:g.83524247G>T	gnomAD
PRSS35	Q8N3Z0	p.Gly269Glu	rs748866087	missense variant	-	NC_000006.12:g.83524247G>A	gnomAD
PRSS35	Q8N3Z0	p.Asp270Gly	rs1247034991	missense variant	-	NC_000006.12:g.83524250A>G	gnomAD
PRSS35	Q8N3Z0	p.Thr272Asn	rs752959351	missense variant	-	NC_000006.12:g.83524256C>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp274Gly	rs754021722	missense variant	-	NC_000006.12:g.83524262A>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp274Tyr	rs1449544833	missense variant	-	NC_000006.12:g.83524261G>T	gnomAD
PRSS35	Q8N3Z0	p.Tyr275Ser	rs757399982	missense variant	-	NC_000006.12:g.83524265A>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Tyr275Cys	rs757399982	missense variant	-	NC_000006.12:g.83524265A>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp276Gly	rs140648812	missense variant	-	NC_000006.12:g.83524268A>G	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Tyr277Cys	rs902837996	missense variant	-	NC_000006.12:g.83524271A>G	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Leu279Phe	rs781061002	missense variant	-	NC_000006.12:g.83524276C>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Leu279Val	rs781061002	missense variant	-	NC_000006.12:g.83524276C>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Leu280Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524280T>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Glu281Gln	rs774283117	missense variant	-	NC_000006.12:g.83524282G>C	TOPMed
PRSS35	Q8N3Z0	p.Arg284His	rs113543482	missense variant	-	NC_000006.12:g.83524292G>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg284Pro	rs113543482	missense variant	-	NC_000006.12:g.83524292G>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg284Cys	rs756083564	missense variant	-	NC_000006.12:g.83524291C>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ala285Val	rs1358787735	missense variant	-	NC_000006.12:g.83524295C>T	gnomAD
PRSS35	Q8N3Z0	p.Lys287Glu	rs770420985	missense variant	-	NC_000006.12:g.83524300A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys287Gln	rs770420985	missense variant	-	NC_000006.12:g.83524300A>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys288Glu	rs996976750	missense variant	-	NC_000006.12:g.83524303A>G	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys288Asn	rs1467879438	missense variant	-	NC_000006.12:g.83524305G>T	gnomAD
PRSS35	Q8N3Z0	p.Lys288Met	rs1161835484	missense variant	-	NC_000006.12:g.83524304A>T	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys289Asn	rs532737344	missense variant	-	NC_000006.12:g.83524308A>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Tyr290His	rs771586617	missense variant	-	NC_000006.12:g.83524309T>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Tyr290Cys	COSM1082079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524310A>G	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Met291Val	rs1465279108	missense variant	-	NC_000006.12:g.83524312A>G	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Met291Thr	COSM1082080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524313T>C	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Glu292Lys	COSM3630203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524315G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Glu292AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.83524314G>-	NCI-TCGA
PRSS35	Q8N3Z0	p.Gly294Val	rs1351872113	missense variant	-	NC_000006.12:g.83524322G>T	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly294Glu	rs1351872113	missense variant	-	NC_000006.12:g.83524322G>A	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly294Arg	rs1239894970	missense variant	-	NC_000006.12:g.83524321G>A	gnomAD
PRSS35	Q8N3Z0	p.Gly294Glu	rs1351872113	missense variant	-	NC_000006.12:g.83524322G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Pro297Leu	rs760930035	missense variant	-	NC_000006.12:g.83524331C>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Thr298Ala	rs369975035	missense variant	-	NC_000006.12:g.83524333A>G	ESP,ExAC,gnomAD
PRSS35	Q8N3Z0	p.Thr298Met	rs1460269196	missense variant	-	NC_000006.12:g.83524334C>T	gnomAD
PRSS35	Q8N3Z0	p.Thr298Met	rs1460269196	missense variant	-	NC_000006.12:g.83524334C>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Ile299Asn	rs1303662762	missense variant	-	NC_000006.12:g.83524337T>A	TOPMed
PRSS35	Q8N3Z0	p.Lys300Asn	rs759409246	missense variant	-	NC_000006.12:g.83524341G>C	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ile307Phe	rs765422823	missense variant	-	NC_000006.12:g.83524360A>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ile307Val	rs765422823	missense variant	-	NC_000006.12:g.83524360A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.His308Arg	rs1045099749	missense variant	-	NC_000006.12:g.83524364A>G	gnomAD
PRSS35	Q8N3Z0	p.Gly311Glu	rs1342365445	missense variant	-	NC_000006.12:g.83524373G>A	gnomAD
PRSS35	Q8N3Z0	p.Phe312Tyr	rs982873007	missense variant	-	NC_000006.12:g.83524376T>A	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Phe312Ser	rs982873007	missense variant	-	NC_000006.12:g.83524376T>C	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp313Glu	rs1448776426	missense variant	-	NC_000006.12:g.83524380T>A	gnomAD
PRSS35	Q8N3Z0	p.Asn314Asp	rs200436779	missense variant	-	NC_000006.12:g.83524381A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asn314Lys	rs139406931	missense variant	-	NC_000006.12:g.83524383C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp315Asn	COSM3630205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524384G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg316Thr	rs777750441	missense variant	-	NC_000006.12:g.83524388G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp318Asn	rs369024634	missense variant	-	NC_000006.12:g.83524393G>A	ESP,ExAC
PRSS35	Q8N3Z0	p.Asp318Ala	rs757126180	missense variant	-	NC_000006.12:g.83524394A>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp318Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524394A>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Gln319Lys	rs1032336788	missense variant	-	NC_000006.12:g.83524396C>A	TOPMed
PRSS35	Q8N3Z0	p.Leu320Ser	rs372801380	missense variant	-	NC_000006.12:g.83524400T>C	ESP,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Leu320Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524401G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.Val321Phe	rs778518818	missense variant	-	NC_000006.12:g.83524402G>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Val321Ile	rs778518818	missense variant	-	NC_000006.12:g.83524402G>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Val321Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524403T>G	NCI-TCGA
PRSS35	Q8N3Z0	p.Tyr322Cys	rs745341301	missense variant	-	NC_000006.12:g.83524406A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Tyr322His	rs1243536858	missense variant	-	NC_000006.12:g.83524405T>C	gnomAD
PRSS35	Q8N3Z0	p.Arg323Gln	rs1184839575	missense variant	-	NC_000006.12:g.83524409G>A	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg323Leu	rs1184839575	missense variant	-	NC_000006.12:g.83524409G>T	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg323Trp	rs1474009747	missense variant	-	NC_000006.12:g.83524408C>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg323Trp	rs1474009747	missense variant	-	NC_000006.12:g.83524408C>T	gnomAD
PRSS35	Q8N3Z0	p.Ser326Arg	rs771810048	missense variant	-	NC_000006.12:g.83524417A>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ser326Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524417A>G	NCI-TCGA
PRSS35	Q8N3Z0	p.Ser328Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524424C>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Asp329Asn	rs1157353385	missense variant	-	NC_000006.12:g.83524426G>A	gnomAD
PRSS35	Q8N3Z0	p.Asp329Glu	rs568367796	missense variant	-	NC_000006.12:g.83524428C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp329Asn	rs1157353385	missense variant	-	NC_000006.12:g.83524426G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Glu330Gly	rs1415173956	missense variant	-	NC_000006.12:g.83524430A>G	gnomAD
PRSS35	Q8N3Z0	p.Glu330Lys	COSM284310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524429G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Ser331Tyr	COSM1082082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524433C>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Asn332Lys	rs1411862646	missense variant	-	NC_000006.12:g.83524437T>G	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asn332Asp	rs769148603	missense variant	-	NC_000006.12:g.83524435A>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asn332Ser	rs141172122	missense variant	-	NC_000006.12:g.83524436A>G	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp333Gly	rs1289169105	missense variant	-	NC_000006.12:g.83524439A>G	gnomAD
PRSS35	Q8N3Z0	p.Asp333Asn	COSM3630207	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524438G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Leu335Phe	rs371415358	missense variant	-	NC_000006.12:g.83524444C>T	ESP
PRSS35	Q8N3Z0	p.Tyr336His	rs762431322	missense variant	-	NC_000006.12:g.83524447T>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Tyr336Ter	COSM742993	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.83524449C>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Gln337Glu	rs202074086	missense variant	-	NC_000006.12:g.83524450C>G	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gln337Lys	rs202074086	missense variant	-	NC_000006.12:g.83524450C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gln337His	rs1258960136	missense variant	-	NC_000006.12:g.83524452A>C	gnomAD
PRSS35	Q8N3Z0	p.Gln337Ter	rs202074086	stop gained	-	NC_000006.12:g.83524450C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Cys339Arg	rs766677846	missense variant	-	NC_000006.12:g.83524456T>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Cys339Ter	rs751722572	stop gained	-	NC_000006.12:g.83524458C>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp340Glu	rs763887425	missense variant	-	NC_000006.12:g.83524461T>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp340Asn	rs267601142	missense variant	-	NC_000006.12:g.83524459G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asp340Asn	rs267601142	missense variant	-	NC_000006.12:g.83524459G>A	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Ala341Val	rs1252013929	missense variant	-	NC_000006.12:g.83524463C>T	gnomAD
PRSS35	Q8N3Z0	p.Glu342AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.83524465_83524466insCTCCTCTT	NCI-TCGA
PRSS35	Q8N3Z0	p.Ser343Leu	rs753593148	missense variant	-	NC_000006.12:g.83524469C>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Thr346Ile	rs1379936525	missense variant	-	NC_000006.12:g.83524478C>T	gnomAD
PRSS35	Q8N3Z0	p.Gly347Arg	rs765201576	missense variant	-	NC_000006.12:g.83524480G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly347Ser	rs765201576	missense variant	-	NC_000006.12:g.83524480G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly347Cys	rs765201576	missense variant	-	NC_000006.12:g.83524480G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly347Ser	rs765201576	missense variant	-	NC_000006.12:g.83524480G>A	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Ser348Leu	rs1173135352	missense variant	-	NC_000006.12:g.83524484C>T	gnomAD
PRSS35	Q8N3Z0	p.Ser348Leu	rs1173135352	missense variant	-	NC_000006.12:g.83524484C>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Val350Phe	rs1469949398	missense variant	-	NC_000006.12:g.83524489G>T	TOPMed
PRSS35	Q8N3Z0	p.Tyr351Ser	rs1308874357	missense variant	-	NC_000006.12:g.83524493A>C	gnomAD
PRSS35	Q8N3Z0	p.Leu352Pro	rs1396040754	missense variant	-	NC_000006.12:g.83524496T>C	gnomAD
PRSS35	Q8N3Z0	p.Arg353His	rs757842601	missense variant	-	NC_000006.12:g.83524499G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg353Gly	rs1390663963	missense variant	-	NC_000006.12:g.83524498C>G	gnomAD
PRSS35	Q8N3Z0	p.Arg353Pro	rs757842601	missense variant	-	NC_000006.12:g.83524499G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg353Cys	COSM3875834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524498C>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg353His	rs757842601	missense variant	-	NC_000006.12:g.83524499G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Asp356Tyr	rs779550849	missense variant	-	NC_000006.12:g.83524507G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Pro357Gln	COSM742991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524511C>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Asp358Gly	rs768376369	missense variant	-	NC_000006.12:g.83524514A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp358Val	rs768376369	missense variant	-	NC_000006.12:g.83524514A>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys359Arg	rs1173544925	missense variant	-	NC_000006.12:g.83524517A>G	TOPMed
PRSS35	Q8N3Z0	p.Lys360Ter	rs780712654	stop gained	-	NC_000006.12:g.83524519A>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys360Asn	rs750566416	missense variant	-	NC_000006.12:g.83524521G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Lys360Gln	rs780712654	missense variant	-	NC_000006.12:g.83524519A>C	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Lys360Arg	rs1364381204	missense variant	-	NC_000006.12:g.83524520A>G	TOPMed
PRSS35	Q8N3Z0	p.Lys360Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524520A>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Asn361Lys	rs770381062	missense variant	-	NC_000006.12:g.83524524T>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asn361Tyr	rs1274990173	missense variant	-	NC_000006.12:g.83524522A>T	gnomAD
PRSS35	Q8N3Z0	p.Trp362Ter	rs1194485831	stop gained	-	NC_000006.12:g.83524527G>A	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg364Ser	rs758536096	missense variant	-	NC_000006.12:g.83524531C>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg364Gly	rs758536096	missense variant	-	NC_000006.12:g.83524531C>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg364Cys	rs758536096	missense variant	-	NC_000006.12:g.83524531C>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg364His	rs1452509235	missense variant	-	NC_000006.12:g.83524532G>A	gnomAD
PRSS35	Q8N3Z0	p.Arg364His	rs1452509235	missense variant	-	NC_000006.12:g.83524532G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg364Cys	rs758536096	missense variant	-	NC_000006.12:g.83524531C>T	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Arg364Gly	rs758536096	missense variant	-	NC_000006.12:g.83524531C>G	NCI-TCGA
PRSS35	Q8N3Z0	p.Lys365Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524536A>C	NCI-TCGA
PRSS35	Q8N3Z0	p.Ile367Val	rs763155572	missense variant	-	NC_000006.12:g.83524540A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ala368Val	rs983020216	missense variant	-	NC_000006.12:g.83524544C>T	-
PRSS35	Q8N3Z0	p.Ala368Val	rs983020216	missense variant	-	NC_000006.12:g.83524544C>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Val369Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524546G>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Gly372Glu	rs767698701	missense variant	-	NC_000006.12:g.83524556G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gln374Arg	rs1351485321	missense variant	-	NC_000006.12:g.83524562A>G	TOPMed
PRSS35	Q8N3Z0	p.Trp375Ter	rs753685998	stop gained	-	NC_000006.12:g.83524565G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Trp375Cys	rs761585932	missense variant	-	NC_000006.12:g.83524566G>T	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp377Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524570G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.His379Gln	rs758299078	missense variant	-	NC_000006.12:g.83524578C>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.His379Tyr	COSM3630210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524576C>T	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Gly380Arg	rs137859515	missense variant	-	NC_000006.12:g.83524579G>C	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly380Arg	rs137859515	missense variant	-	NC_000006.12:g.83524579G>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Val381Ile	rs751072274	missense variant	-	NC_000006.12:g.83524582G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gln382Arg	rs780968244	missense variant	-	NC_000006.12:g.83524586A>G	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp384Asn	COSM4904829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.83524591G>A	NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Tyr385Cys	rs770046319	missense variant	-	NC_000006.12:g.83524595A>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Tyr385Ser	rs770046319	missense variant	-	NC_000006.12:g.83524595A>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Tyr385Asn	rs377368536	missense variant	-	NC_000006.12:g.83524594T>A	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Val387Ala	rs1450419530	missense variant	-	NC_000006.12:g.83524601T>C	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Val387Ile	rs375255168	missense variant	-	NC_000006.12:g.83524600G>A	ESP,gnomAD
PRSS35	Q8N3Z0	p.Val387Ile	rs375255168	missense variant	-	NC_000006.12:g.83524600G>A	NCI-TCGA
PRSS35	Q8N3Z0	p.Ala388Thr	rs749770191	missense variant	-	NC_000006.12:g.83524603G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg390Ser	rs367851503	missense variant	-	NC_000006.12:g.83524609C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg390Cys	rs367851503	missense variant	-	NC_000006.12:g.83524609C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Arg390Pro	rs747045465	missense variant	-	NC_000006.12:g.83524610G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Arg390Leu	rs747045465	missense variant	-	NC_000006.12:g.83524610G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Pro393Ser	rs1189341775	missense variant	-	NC_000006.12:g.83524618C>T	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Pro393His	rs775688536	missense variant	-	NC_000006.12:g.83524619C>A	ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Ala397Ser	rs764955895	missense variant	-	NC_000006.12:g.83524630G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Ala397Gly	rs773012344	missense variant	-	NC_000006.12:g.83524631C>G	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gln398Glu	rs1461826916	missense variant	-	NC_000006.12:g.83524633C>G	gnomAD
PRSS35	Q8N3Z0	p.Gln398His	rs762831623	missense variant	-	NC_000006.12:g.83524635G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Leu401Phe	rs1020187738	missense variant	-	NC_000006.12:g.83524642C>T	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Trp402Cys	rs766307797	missense variant	-	NC_000006.12:g.83524647G>C	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Trp402Ter	rs766307797	stop gained	-	NC_000006.12:g.83524647G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Trp402Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524647G>T	NCI-TCGA
PRSS35	Q8N3Z0	p.His404Gln	rs535446593	missense variant	-	NC_000006.12:g.83524653C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly405Val	rs1213614535	missense variant	-	NC_000006.12:g.83524655G>T	gnomAD
PRSS35	Q8N3Z0	p.Gly405Trp	rs767345620	missense variant	-	NC_000006.12:g.83524654G>T	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Asn406Asp	rs1233114565	missense variant	-	NC_000006.12:g.83524657A>G	TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asp407Asn	rs776819854	missense variant	-	NC_000006.12:g.83524660G>A	TOPMed
PRSS35	Q8N3Z0	p.Asp407His	rs776819854	missense variant	-	NC_000006.12:g.83524660G>C	TOPMed
PRSS35	Q8N3Z0	p.Asp407Asn	rs776819854	missense variant	-	NC_000006.12:g.83524660G>A	NCI-TCGA,NCI-TCGA Cosmic
PRSS35	Q8N3Z0	p.Ala408Val	rs761909723	missense variant	-	NC_000006.12:g.83524664C>T	gnomAD
PRSS35	Q8N3Z0	p.Asn409Ser	rs202217440	missense variant	-	NC_000006.12:g.83524667A>G	ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Asn409Tyr	rs1245773661	missense variant	-	NC_000006.12:g.83524666A>T	TOPMed
PRSS35	Q8N3Z0	p.Asn409Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524666A>G	NCI-TCGA
PRSS35	Q8N3Z0	p.Ala411Ser	rs200639755	missense variant	-	NC_000006.12:g.83524672G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly413Ser	rs749623079	missense variant	-	NC_000006.12:g.83524678G>A	ExAC,gnomAD
PRSS35	Q8N3Z0	p.Gly413Ala	rs150074323	missense variant	-	NC_000006.12:g.83524679G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRSS35	Q8N3Z0	p.Gly413Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.83524679G>A	NCI-TCGA
KDF1	Q8NAX2	p.Pro2Ser	COSM1341459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952377G>A	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Arg3His	rs200247502	missense variant	-	NC_000001.11:g.26952373C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg3Cys	rs1306424911	missense variant	-	NC_000001.11:g.26952374G>A	TOPMed
KDF1	Q8NAX2	p.Arg3Ser	rs1306424911	missense variant	-	NC_000001.11:g.26952374G>T	TOPMed
KDF1	Q8NAX2	p.Arg3Cys	rs1306424911	missense variant	-	NC_000001.11:g.26952374G>A	NCI-TCGA
KDF1	Q8NAX2	p.Gly5Glu	COSM3487629	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952367C>T	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.His6Tyr	rs1215994710	missense variant	-	NC_000001.11:g.26952365G>A	TOPMed
KDF1	Q8NAX2	p.Pro7Ala	rs1363056327	missense variant	-	NC_000001.11:g.26952362G>C	TOPMed
KDF1	Q8NAX2	p.Arg8Cys	rs565917289	missense variant	-	NC_000001.11:g.26952359G>A	1000Genomes,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg8His	rs548929772	missense variant	-	NC_000001.11:g.26952358C>T	1000Genomes,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg8AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26952359G>-	NCI-TCGA
KDF1	Q8NAX2	p.Ala10Glu	rs768274676	missense variant	-	NC_000001.11:g.26952352G>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Gly12Arg	rs1377871069	missense variant	-	NC_000001.11:g.26952347C>T	TOPMed
KDF1	Q8NAX2	p.Pro13Ala	rs375203089	missense variant	-	NC_000001.11:g.26952344G>C	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro13Arg	rs1203106618	missense variant	-	NC_000001.11:g.26952343G>C	TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg15His	rs144505487	missense variant	-	NC_000001.11:g.26952337C>T	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg15Leu	rs144505487	missense variant	-	NC_000001.11:g.26952337C>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg15Cys	rs529561188	missense variant	-	NC_000001.11:g.26952338G>A	1000Genomes,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gly17Glu	rs1240659379	missense variant	-	NC_000001.11:g.26952331C>T	gnomAD
KDF1	Q8NAX2	p.Gly17Arg	rs770601582	missense variant	-	NC_000001.11:g.26952332C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Pro18Leu	rs145806681	missense variant	-	NC_000001.11:g.26952328G>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro18Leu	rs145806681	missense variant	-	NC_000001.11:g.26952328G>A	NCI-TCGA
KDF1	Q8NAX2	p.Glu20Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26952321C>A	NCI-TCGA
KDF1	Q8NAX2	p.Arg21Gln	rs79374331	missense variant	-	NC_000001.11:g.26952319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg21Trp	rs756011181	missense variant	-	NC_000001.11:g.26952320G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro22Ser	COSM1341458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952317G>A	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Thr23Arg	rs758740877	missense variant	-	NC_000001.11:g.26952313G>C	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Thr23Ala	rs780230453	missense variant	-	NC_000001.11:g.26952314T>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Glu24Lys	rs1011626133	missense variant	-	NC_000001.11:g.26952311C>T	TOPMed,gnomAD
KDF1	Q8NAX2	p.Glu24Val	rs1160142189	missense variant	-	NC_000001.11:g.26952310T>A	gnomAD
KDF1	Q8NAX2	p.Glu24Asp	rs750638599	missense variant	-	NC_000001.11:g.26952309C>G	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Glu28Lys	rs1175925699	missense variant	-	NC_000001.11:g.26952299C>T	gnomAD
KDF1	Q8NAX2	p.Glu28Gln	COSM6126225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952299C>G	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Glu28Ter	COSM4856095	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26952299C>A	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Glu28Ala	rs1231776865	missense variant	-	NC_000001.11:g.26952298T>G	TOPMed
KDF1	Q8NAX2	p.Tyr30Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26952291_26952292AT>-	NCI-TCGA
KDF1	Q8NAX2	p.Pro33Leu	rs1247613771	missense variant	-	NC_000001.11:g.26952283G>A	gnomAD
KDF1	Q8NAX2	p.Pro34Ala	rs369334382	missense variant	-	NC_000001.11:g.26952281G>C	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gln35Arg	rs1288405447	missense variant	-	NC_000001.11:g.26952277T>C	gnomAD
KDF1	Q8NAX2	p.Pro36Ser	rs761208100	missense variant	-	NC_000001.11:g.26952275G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro38Ser	rs775005166	missense variant	-	NC_000001.11:g.26952269G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Ser39Gly	rs1282260823	missense variant	-	NC_000001.11:g.26952266T>C	gnomAD
KDF1	Q8NAX2	p.Arg40His	rs773978155	missense variant	-	NC_000001.11:g.26952262C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg40Ser	rs759227084	missense variant	-	NC_000001.11:g.26952263G>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg40Cys	rs759227084	missense variant	-	NC_000001.11:g.26952263G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg41His	rs143721921	missense variant	-	NC_000001.11:g.26952259C>T	ESP,ExAC,gnomAD
KDF1	Q8NAX2	p.Arg41Cys	rs770558931	missense variant	-	NC_000001.11:g.26952260G>A	NCI-TCGA,NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Arg41Cys	rs770558931	missense variant	-	NC_000001.11:g.26952260G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Thr42Ser	rs1299651921	missense variant	-	NC_000001.11:g.26952257T>A	gnomAD
KDF1	Q8NAX2	p.Thr42Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26952256G>A	NCI-TCGA
KDF1	Q8NAX2	p.Arg43His	rs1156351594	missense variant	-	NC_000001.11:g.26952253C>T	gnomAD
KDF1	Q8NAX2	p.Arg43Cys	rs199965062	missense variant	-	NC_000001.11:g.26952254G>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg43Gly	rs199965062	missense variant	-	NC_000001.11:g.26952254G>C	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg43His	rs1156351594	missense variant	-	NC_000001.11:g.26952253C>T	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Pro47Ala	rs780318215	missense variant	-	NC_000001.11:g.26952242G>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Gly51TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26952231_26952232insG	NCI-TCGA
KDF1	Q8NAX2	p.His52Tyr	rs1049224185	missense variant	-	NC_000001.11:g.26952227G>A	TOPMed
KDF1	Q8NAX2	p.His53Arg	rs746153605	missense variant	-	NC_000001.11:g.26952223T>C	ExAC,gnomAD
KDF1	Q8NAX2	p.His53Arg	rs746153605	missense variant	-	NC_000001.11:g.26952223T>C	NCI-TCGA
KDF1	Q8NAX2	p.His53Tyr	COSM3487627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952224G>A	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Gly54Glu	rs1247789887	missense variant	-	NC_000001.11:g.26952220C>T	TOPMed
KDF1	Q8NAX2	p.Glu56Gln	rs1178501414	missense variant	-	NC_000001.11:g.26952215C>G	TOPMed
KDF1	Q8NAX2	p.Ser57Thr	rs1194583670	missense variant	-	NC_000001.11:g.26952211C>G	gnomAD
KDF1	Q8NAX2	p.Ser57HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26952211_26952212CT>-	NCI-TCGA
KDF1	Q8NAX2	p.Ile61Ser	rs919668124	missense variant	-	NC_000001.11:g.26952199A>C	TOPMed
KDF1	Q8NAX2	p.Ile61Leu	rs1240391723	missense variant	-	NC_000001.11:g.26952200T>G	gnomAD
KDF1	Q8NAX2	p.Ser62Cys	rs1312899616	missense variant	-	NC_000001.11:g.26952196G>C	gnomAD
KDF1	Q8NAX2	p.Ala65Thr	rs144535348	missense variant	-	NC_000001.11:g.26952188C>T	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala65Val	rs982502162	missense variant	-	NC_000001.11:g.26952187G>A	TOPMed
KDF1	Q8NAX2	p.Pro67Leu	rs140672463	missense variant	-	NC_000001.11:g.26952181G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala68Thr	rs767081810	missense variant	-	NC_000001.11:g.26952179C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Leu69Ile	rs759059288	missense variant	-	NC_000001.11:g.26952176G>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Ser71Pro	rs1286803692	missense variant	-	NC_000001.11:g.26952170A>G	gnomAD
KDF1	Q8NAX2	p.Ser71Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26952169G>A	NCI-TCGA
KDF1	Q8NAX2	p.Pro72Ser	rs773781837	missense variant	-	NC_000001.11:g.26952167G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Thr73Ile	rs368517120	missense variant	-	NC_000001.11:g.26952163G>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Cys74Ser	rs772925863	missense variant	-	NC_000001.11:g.26952160C>G	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg79Gln	rs748161190	missense variant	-	NC_000001.11:g.26952145C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg79Pro	rs748161190	missense variant	-	NC_000001.11:g.26952145C>G	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Trp81Arg	rs776692680	missense variant	-	NC_000001.11:g.26952140A>G	ExAC,gnomAD
KDF1	Q8NAX2	p.Trp81Ter	COSM3487626	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26952138C>T	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Trp81Ter	COSM680157	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26952139C>T	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Val82Met	rs768659946	missense variant	-	NC_000001.11:g.26952137C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Trp83Leu	rs745948877	missense variant	-	NC_000001.11:g.26952133C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Glu84Lys	rs1242618637	missense variant	-	NC_000001.11:g.26952131C>T	gnomAD
KDF1	Q8NAX2	p.Trp85Cys	rs377299520	missense variant	-	NC_000001.11:g.26952126C>G	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Trp85Cys	rs377299520	missense variant	-	NC_000001.11:g.26952126C>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Trp85Ter	rs1459944951	stop gained	-	NC_000001.11:g.26952127C>T	gnomAD
KDF1	Q8NAX2	p.Trp85Arg	rs779015336	missense variant	-	NC_000001.11:g.26952128A>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg87Trp	rs145915640	missense variant	-	NC_000001.11:g.26952122G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg87Leu	rs151306106	missense variant	-	NC_000001.11:g.26952121C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg87Gln	rs151306106	missense variant	-	NC_000001.11:g.26952121C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala88Val	rs1379187949	missense variant	-	NC_000001.11:g.26952118G>A	gnomAD
KDF1	Q8NAX2	p.Ala88Thr	rs1229680244	missense variant	-	NC_000001.11:g.26952119C>T	gnomAD
KDF1	Q8NAX2	p.Phe90Tyr	rs1335521334	missense variant	-	NC_000001.11:g.26952112A>T	gnomAD
KDF1	Q8NAX2	p.Cys91Tyr	rs1303881429	missense variant	-	NC_000001.11:g.26952109C>T	gnomAD
KDF1	Q8NAX2	p.Arg93Cys	rs1419104452	missense variant	-	NC_000001.11:g.26952104G>A	TOPMed
KDF1	Q8NAX2	p.Arg93His	rs753001226	missense variant	-	NC_000001.11:g.26952103C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg93Leu	rs753001226	missense variant	-	NC_000001.11:g.26952103C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg94His	rs541799014	missense variant	-	NC_000001.11:g.26952100C>T	1000Genomes,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg94Ser	rs1332689455	missense variant	-	NC_000001.11:g.26952101G>T	gnomAD
KDF1	Q8NAX2	p.Cys95Arg	rs148853297	missense variant	-	NC_000001.11:g.26952098A>G	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg96Trp	rs765887283	missense variant	-	NC_000001.11:g.26952095G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg96Gln	rs762549436	missense variant	-	NC_000001.11:g.26952094C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Leu99Val	rs144301593	missense variant	-	NC_000001.11:g.26952086G>C	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gln100Ter	rs761717950	stop gained	-	NC_000001.11:g.26952083G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gln100Arg	rs17360994	missense variant	-	NC_000001.11:g.26952082T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg101Cys	rs760644538	missense variant	-	NC_000001.11:g.26952080G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg101His	rs139183337	missense variant	-	NC_000001.11:g.26952079C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Cys102Tyr	rs982450139	missense variant	-	NC_000001.11:g.26952076C>T	TOPMed,gnomAD
KDF1	Q8NAX2	p.Cys102Arg	rs771012694	missense variant	-	NC_000001.11:g.26952077A>G	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala104Gly	rs749541622	missense variant	-	NC_000001.11:g.26952070G>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Cys105Tyr	rs769935791	missense variant	-	NC_000001.11:g.26952067C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Cys105Gly	rs141234946	missense variant	-	NC_000001.11:g.26952068A>C	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg107Gln	rs138248574	missense variant	-	NC_000001.11:g.26952061C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg107Trp	rs3010109	missense variant	-	NC_000001.11:g.26952062G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gly108Glu	rs779492462	missense variant	-	NC_000001.11:g.26952058C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Gly108Ter	rs752071068	stop gained	-	NC_000001.11:g.26952059C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Ser110Asn	rs1395249421	missense variant	-	NC_000001.11:g.26952052C>T	TOPMed
KDF1	Q8NAX2	p.Ser110Cys	COSM6063100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26952053T>A	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Pro111Ser	rs367617835	missense variant	-	NC_000001.11:g.26952050G>A	ESP,gnomAD
KDF1	Q8NAX2	p.Cys112Phe	rs1418453799	missense variant	-	NC_000001.11:g.26952046C>A	gnomAD
KDF1	Q8NAX2	p.Cys112Ser	rs1418453799	missense variant	-	NC_000001.11:g.26952046C>G	gnomAD
KDF1	Q8NAX2	p.Ser114Pro	rs1248101168	missense variant	-	NC_000001.11:g.26952041A>G	gnomAD
KDF1	Q8NAX2	p.Thr115Ile	rs749842745	missense variant	-	NC_000001.11:g.26952037G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ser118Thr	rs1260821198	missense variant	-	NC_000001.11:g.26952029A>T	gnomAD
KDF1	Q8NAX2	p.Thr119Ala	rs1206217498	missense variant	-	NC_000001.11:g.26952026T>C	TOPMed
KDF1	Q8NAX2	p.Glu120Lys	rs761519934	missense variant	-	NC_000001.11:g.26952023C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Gly121Val	rs753712013	missense variant	-	NC_000001.11:g.26952019C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Gly121Glu	rs753712013	missense variant	-	NC_000001.11:g.26952019C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Gly121Glu	rs753712013	missense variant	-	NC_000001.11:g.26952019C>T	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Gly121Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26952020C>T	NCI-TCGA
KDF1	Q8NAX2	p.Thr122LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26952018C>-	NCI-TCGA
KDF1	Q8NAX2	p.Glu124Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26952011C>T	NCI-TCGA
KDF1	Q8NAX2	p.Ala125Gly	rs1387693335	missense variant	-	NC_000001.11:g.26952007G>C	gnomAD
KDF1	Q8NAX2	p.Trp127Arg	rs1345345856	missense variant	-	NC_000001.11:g.26952002A>G	gnomAD
KDF1	Q8NAX2	p.Ala128Thr	rs1301452100	missense variant	-	NC_000001.11:g.26951999C>T	TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala128Pro	rs1301452100	missense variant	-	NC_000001.11:g.26951999C>G	TOPMed,gnomAD
KDF1	Q8NAX2	p.Lys129Asn	rs770975636	missense variant	-	NC_000001.11:g.26951994C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Lys129Arg	rs371974787	missense variant	-	NC_000001.11:g.26951995T>C	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Lys129Glu	rs199725807	missense variant	-	NC_000001.11:g.26951996T>C	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.His131Gln	rs534821230	missense variant	-	NC_000001.11:g.26951988G>T	1000Genomes,ExAC,gnomAD
KDF1	Q8NAX2	p.Asn132Ser	rs770025779	missense variant	-	NC_000001.11:g.26951986T>C	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Asn132Lys	rs748346371	missense variant	-	NC_000001.11:g.26951985A>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Val134Gly	rs768999890	missense variant	-	NC_000001.11:g.26951980A>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Val134Leu	rs781573827	missense variant	-	NC_000001.11:g.26951981C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Pro135Thr	rs747525165	missense variant	-	NC_000001.11:g.26951978G>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Pro135Ser	rs747525165	missense variant	-	NC_000001.11:g.26951978G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Pro136Leu	rs939725374	missense variant	-	NC_000001.11:g.26951974G>A	TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro136Arg	rs939725374	missense variant	-	NC_000001.11:g.26951974G>C	TOPMed,gnomAD
KDF1	Q8NAX2	p.Ser137Ile	rs758768470	missense variant	-	NC_000001.11:g.26951971C>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ser137GlnPheSerTerUnk	rs752617278	frameshift	-	NC_000001.11:g.26951972_26951973insG	NCI-TCGA
KDF1	Q8NAX2	p.Asp139Glu	rs1323198695	missense variant	-	NC_000001.11:g.26951964A>C	gnomAD
KDF1	Q8NAX2	p.Arg140Cys	rs368075916	missense variant	-	NC_000001.11:g.26951963G>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg140His	rs377413091	missense variant	-	NC_000001.11:g.26951962C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg140Ser	rs368075916	missense variant	-	NC_000001.11:g.26951963G>T	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala141Thr	rs757023061	missense variant	-	NC_000001.11:g.26951960C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Pro142Ser	rs369366004	missense variant	-	NC_000001.11:g.26951957G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro142Leu	rs760507136	missense variant	-	NC_000001.11:g.26951956G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro143Ser	rs1009596067	missense variant	-	NC_000001.11:g.26951954G>A	TOPMed
KDF1	Q8NAX2	p.Ser144AlaPheSerTerUnkUnkUnk	COSM1734094	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26951952G>-	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Arg145Gln	rs550041376	missense variant	-	NC_000001.11:g.26951947C>T	1000Genomes,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg145Trp	rs150246438	missense variant	-	NC_000001.11:g.26951948G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg146Gln	rs765268716	missense variant	-	NC_000001.11:g.26951944C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg146Trp	COSM4667323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951945G>A	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Arg146Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26951944C>A	NCI-TCGA
KDF1	Q8NAX2	p.Asp147Asn	rs1373270171	missense variant	-	NC_000001.11:g.26951942C>T	gnomAD
KDF1	Q8NAX2	p.Gly148Val	rs1192106949	missense variant	-	NC_000001.11:g.26951938C>A	gnomAD
KDF1	Q8NAX2	p.Gln149Ter	rs1444707756	stop gained	-	NC_000001.11:g.26951936G>A	gnomAD
KDF1	Q8NAX2	p.Arg150Trp	rs201518791	missense variant	-	NC_000001.11:g.26951933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg150Gln	rs768805849	missense variant	-	NC_000001.11:g.26951932C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Lys152Met	rs564540710	missense variant	-	NC_000001.11:g.26951926T>A	1000Genomes,ExAC,gnomAD
KDF1	Q8NAX2	p.Lys152Asn	rs547943153	missense variant	-	NC_000001.11:g.26951925C>A	1000Genomes,ExAC,gnomAD
KDF1	Q8NAX2	p.Ser153Ala	rs1220825302	missense variant	-	NC_000001.11:g.26951924A>C	gnomAD
KDF1	Q8NAX2	p.Met155Thr	rs565350870	missense variant	-	NC_000001.11:g.26951917A>G	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Met155Ile	rs778611060	missense variant	-	NC_000001.11:g.26951916C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Met155Thr	rs565350870	missense variant	-	NC_000001.11:g.26951917A>G	NCI-TCGA
KDF1	Q8NAX2	p.Met155Val	rs147716816	missense variant	-	NC_000001.11:g.26951918T>C	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gly156Ser	rs1342284055	missense variant	-	NC_000001.11:g.26951915C>T	gnomAD
KDF1	Q8NAX2	p.Ser160Thr	rs756824633	missense variant	-	NC_000001.11:g.26951902C>G	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Asp163Asn	COSM907805	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951894C>T	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Gly168Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26951878C>T	NCI-TCGA
KDF1	Q8NAX2	p.Pro170Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26951872G>A	NCI-TCGA
KDF1	Q8NAX2	p.Val171Leu	rs755657572	missense variant	-	NC_000001.11:g.26951870C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Tyr172His	COSM4031059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951867A>G	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Pro173Thr	rs1411441965	missense variant	-	NC_000001.11:g.26951864G>T	TOPMed,gnomAD
KDF1	Q8NAX2	p.Tyr174Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26951860T>C	NCI-TCGA
KDF1	Q8NAX2	p.Pro175Leu	rs767193569	missense variant	-	NC_000001.11:g.26951857G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala177Ser	rs751490034	missense variant	-	NC_000001.11:g.26951852C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Ala177Asp	rs765356214	missense variant	-	NC_000001.11:g.26951851G>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro180Ser	rs1443532206	missense variant	-	NC_000001.11:g.26951843G>A	gnomAD
KDF1	Q8NAX2	p.Asp183His	rs761892290	missense variant	-	NC_000001.11:g.26951834C>G	ExAC,gnomAD
KDF1	Q8NAX2	p.Ala184Val	rs199575697	missense variant	-	NC_000001.11:g.26951830G>A	1000Genomes,ExAC,gnomAD
KDF1	Q8NAX2	p.Ala184Gly	rs199575697	missense variant	-	NC_000001.11:g.26951830G>C	1000Genomes,ExAC,gnomAD
KDF1	Q8NAX2	p.Ala184Thr	rs1201149191	missense variant	-	NC_000001.11:g.26951831C>T	TOPMed,gnomAD
KDF1	Q8NAX2	p.Asp185Ala	rs1170965711	missense variant	-	NC_000001.11:g.26951827T>G	TOPMed
KDF1	Q8NAX2	p.Ser186Phe	rs1018990840	missense variant	-	NC_000001.11:g.26951824G>A	TOPMed,gnomAD
KDF1	Q8NAX2	p.Lys189Arg	rs34291506	missense variant	-	NC_000001.11:g.26951815T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Glu190Lys	rs746444382	missense variant	-	NC_000001.11:g.26951813C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Glu190Gly	rs149743404	missense variant	-	NC_000001.11:g.26951812T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Leu192Pro	rs1312743402	missense variant	-	NC_000001.11:g.26951806A>G	gnomAD
KDF1	Q8NAX2	p.Asp194Asn	rs748813446	missense variant	-	NC_000001.11:g.26951801C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro195His	rs1439642365	missense variant	-	NC_000001.11:g.26951797G>T	TOPMed
KDF1	Q8NAX2	p.Pro196Arg	rs777367914	missense variant	-	NC_000001.11:g.26951794G>C	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro197Thr	rs747723043	missense variant	-	NC_000001.11:g.26951792G>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Met198Val	rs781107975	missense variant	-	NC_000001.11:g.26951789T>C	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Met198Ile	rs1382860363	missense variant	-	NC_000001.11:g.26951787C>G	gnomAD
KDF1	Q8NAX2	p.Arg199Ter	rs754712166	stop gained	-	NC_000001.11:g.26951786G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg199Gln	rs751293758	missense variant	-	NC_000001.11:g.26951785C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ser201Arg	rs766306128	missense variant	-	NC_000001.11:g.26951778G>C	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ser204Thr	rs1180072361	missense variant	-	NC_000001.11:g.26951770C>G	gnomAD
KDF1	Q8NAX2	p.Thr205Ala	rs145994096	missense variant	-	NC_000001.11:g.26951768T>C	1000Genomes,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ser208Gly	rs374676574	missense variant	-	NC_000001.11:g.26951759T>C	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro210Thr	rs1274898072	missense variant	-	NC_000001.11:g.26951753G>T	gnomAD
KDF1	Q8NAX2	p.Pro210Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26951753G>A	NCI-TCGA
KDF1	Q8NAX2	p.Arg211Cys	rs772927829	missense variant	-	NC_000001.11:g.26951750G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg211His	rs761001620	missense variant	-	NC_000001.11:g.26951749C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gly212Asp	rs767984255	missense variant	-	NC_000001.11:g.26951746C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gly212Val	rs767984255	missense variant	-	NC_000001.11:g.26951746C>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Glu214Lys	rs771599585	missense variant	-	NC_000001.11:g.26951741C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Glu215Lys	rs1439734183	missense variant	-	NC_000001.11:g.26951738C>T	gnomAD
KDF1	Q8NAX2	p.Tyr216Ter	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26951733G>C	NCI-TCGA
KDF1	Q8NAX2	p.Tyr217Cys	rs771990259	missense variant	-	NC_000001.11:g.26951731T>C	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Tyr217Ser	rs771990259	missense variant	-	NC_000001.11:g.26951731T>G	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Phe219Leu	rs141390568	missense variant	-	NC_000001.11:g.26951724G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Phe219Ser	rs1193215684	missense variant	-	NC_000001.11:g.26951725A>G	TOPMed
KDF1	Q8NAX2	p.Ser222Leu	rs894118968	missense variant	-	NC_000001.11:g.26951716G>A	TOPMed,gnomAD
KDF1	Q8NAX2	p.Asp223Tyr	rs746835693	missense variant	-	NC_000001.11:g.26951714C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Asp225Glu	rs369086580	missense variant	-	NC_000001.11:g.26951706G>T	ESP,TOPMed,gnomAD
KDF1	Q8NAX2	p.Pro227Ser	rs779779172	missense variant	-	NC_000001.11:g.26951702G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Pro227Arg	rs1222040567	missense variant	-	NC_000001.11:g.26951701G>C	TOPMed
KDF1	Q8NAX2	p.Pro227Leu	rs1222040567	missense variant	-	NC_000001.11:g.26951701G>A	TOPMed
KDF1	Q8NAX2	p.Glu228Ala	rs374964459	missense variant	-	NC_000001.11:g.26951698T>G	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Glu228Lys	COSM907803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951699C>T	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Gly230Ser	rs1489929248	missense variant	-	NC_000001.11:g.26951693C>T	gnomAD
KDF1	Q8NAX2	p.Ser231Gly	rs777979399	missense variant	-	NC_000001.11:g.26951690T>C	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gly232Ser	rs756134971	missense variant	-	NC_000001.11:g.26951687C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Met234Ile	rs1283470177	missense variant	-	NC_000001.11:g.26951679C>A	gnomAD
KDF1	Q8NAX2	p.Met234Thr	rs1446555798	missense variant	-	NC_000001.11:g.26951680A>G	gnomAD
KDF1	Q8NAX2	p.Ser235Leu	rs371743170	missense variant	-	NC_000001.11:g.26951677G>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg237Gln	rs758651584	missense variant	-	NC_000001.11:g.26951671C>T	gnomAD
KDF1	Q8NAX2	p.Arg237Pro	rs758651584	missense variant	-	NC_000001.11:g.26951671C>G	gnomAD
KDF1	Q8NAX2	p.Leu242Phe	rs766818287	missense variant	-	NC_000001.11:g.26951657G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Ile243Thr	COSM6063101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951653A>G	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Phe244Leu	rs763620227	missense variant	-	NC_000001.11:g.26951649G>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Glu249AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26951634_26951635CT>-	NCI-TCGA
KDF1	Q8NAX2	p.Phe251Leu	rs1057519508	missense variant	-	NC_000001.11:g.26951628G>T	-
KDF1	Q8NAX2	p.Phe251Leu	RCV000416757	missense variant	Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (ECTD12)	NC_000001.11:g.26951628G>T	ClinVar
KDF1	Q8NAX2	p.Val253Ile	rs770274619	missense variant	-	NC_000001.11:g.26951624C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Asp257Asn	rs761230977	missense variant	-	NC_000001.11:g.26951612C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Glu258Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26951607C>G	NCI-TCGA
KDF1	Q8NAX2	p.Leu259Met	rs1046987033	missense variant	-	NC_000001.11:g.26951606G>T	gnomAD
KDF1	Q8NAX2	p.Thr263Ser	rs1485546031	missense variant	-	NC_000001.11:g.26951594T>A	gnomAD
KDF1	Q8NAX2	p.Ser273Ile	rs555440089	missense variant	-	NC_000001.11:g.26951563C>A	1000Genomes,ExAC,gnomAD
KDF1	Q8NAX2	p.Ser273Asn	rs555440089	missense variant	-	NC_000001.11:g.26951563C>T	1000Genomes,ExAC,gnomAD
KDF1	Q8NAX2	p.Asp277Gly	rs1489265925	missense variant	-	NC_000001.11:g.26951551T>C	TOPMed
KDF1	Q8NAX2	p.Ile279Ser	rs778729019	missense variant	-	NC_000001.11:g.26951545A>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Ser280Asn	COSM907801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951542C>T	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Ser281Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26951539C>T	NCI-TCGA
KDF1	Q8NAX2	p.Ile282Val	rs757152014	missense variant	-	NC_000001.11:g.26951537T>C	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Thr283Met	rs372248277	missense variant	-	NC_000001.11:g.26951533G>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gln284His	rs755290067	missense variant	-	NC_000001.11:g.26951529C>G	ExAC,gnomAD
KDF1	Q8NAX2	p.Asp285Tyr	rs1267926055	missense variant	-	NC_000001.11:g.26951528C>A	gnomAD
KDF1	Q8NAX2	p.Gln291Ter	COSM4852598	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.26951510G>A	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Asp292Val	rs751825325	missense variant	-	NC_000001.11:g.26951506T>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Glu294Lys	rs368880136	missense variant	-	NC_000001.11:g.26951501C>T	ESP,ExAC,gnomAD
KDF1	Q8NAX2	p.Arg296Cys	rs1468559178	missense variant	-	NC_000001.11:g.26951495G>A	gnomAD
KDF1	Q8NAX2	p.Arg296Leu	rs1356645212	missense variant	-	NC_000001.11:g.26951494C>A	TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg299Cys	rs1428166482	missense variant	-	NC_000001.11:g.26951486G>A	gnomAD
KDF1	Q8NAX2	p.Arg299His	rs750729459	missense variant	-	NC_000001.11:g.26951485C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Gly300Ser	rs762329870	missense variant	-	NC_000001.11:g.26951483C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ile301Val	rs1182987192	missense variant	-	NC_000001.11:g.26951480T>C	gnomAD
KDF1	Q8NAX2	p.Ile302Val	rs763566861	missense variant	-	NC_000001.11:g.26951477T>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg303His	rs760390089	missense variant	-	NC_000001.11:g.26951473C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg303Cys	COSM907800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951474G>A	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Arg307Gln	rs1306524391	missense variant	-	NC_000001.11:g.26951461C>T	gnomAD
KDF1	Q8NAX2	p.Arg307Gly	rs775113713	missense variant	-	NC_000001.11:g.26951462G>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Lys308Arg	rs1247514208	missense variant	-	NC_000001.11:g.26951458T>C	gnomAD
KDF1	Q8NAX2	p.Lys308Asn	COSM907799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26951457C>A	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Arg310His	rs150297466	missense variant	-	NC_000001.11:g.26951452C>T	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg310Cys	rs774156596	missense variant	-	NC_000001.11:g.26951453G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala311Ser	rs749216836	missense variant	-	NC_000001.11:g.26951450C>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Ala311Val	rs781487247	missense variant	-	NC_000001.11:g.26951449G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg312Cys	rs1299130029	missense variant	-	NC_000001.11:g.26951447G>A	TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg312His	rs755094201	missense variant	-	NC_000001.11:g.26951446C>T	UniProt,dbSNP
KDF1	Q8NAX2	p.Arg312His	VAR_035616	missense variant	-	NC_000001.11:g.26951446C>T	UniProt
KDF1	Q8NAX2	p.Arg312His	rs755094201	missense variant	-	NC_000001.11:g.26951446C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gln314Ter	rs747027074	stop gained	-	NC_000001.11:g.26951441G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Gln314His	rs1409661383	missense variant	-	NC_000001.11:g.26951439C>G	TOPMed
KDF1	Q8NAX2	p.Gln314Glu	rs747027074	missense variant	-	NC_000001.11:g.26951441G>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Ser316Leu	rs780424265	missense variant	-	NC_000001.11:g.26951434G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Glu317Lys	rs780155303	missense variant	-	NC_000001.11:g.26951432C>T	TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg319His	rs145055719	missense variant	-	NC_000001.11:g.26951425C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg319Cys	rs750772780	missense variant	-	NC_000001.11:g.26951426G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Thr321Ile	rs1177543751	missense variant	-	NC_000001.11:g.26951419G>A	gnomAD
KDF1	Q8NAX2	p.Thr321Pro	rs1252625327	missense variant	-	NC_000001.11:g.26951420T>G	gnomAD
KDF1	Q8NAX2	p.Arg322Gln	rs1249155593	missense variant	-	NC_000001.11:g.26951416C>T	TOPMed,gnomAD
KDF1	Q8NAX2	p.Arg322Trp	rs370336022	missense variant	-	NC_000001.11:g.26951417G>A	ESP,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala325Thr	rs754368453	missense variant	-	NC_000001.11:g.26951408C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Ala325Val	rs1290427750	missense variant	-	NC_000001.11:g.26951407G>A	gnomAD
KDF1	Q8NAX2	p.Thr327Asn	rs1243202771	missense variant	-	NC_000001.11:g.26951401G>T	gnomAD
KDF1	Q8NAX2	p.Ala328Thr	rs760195823	missense variant	-	NC_000001.11:g.26951399C>T	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala329Val	rs1391168455	missense variant	-	NC_000001.11:g.26951395G>A	gnomAD
KDF1	Q8NAX2	p.Pro331Arg	rs1305120866	missense variant	-	NC_000001.11:g.26951389G>C	gnomAD
KDF1	Q8NAX2	p.Pro331Ala	rs1371717230	missense variant	-	NC_000001.11:g.26951390G>C	gnomAD
KDF1	Q8NAX2	p.Ser333Asn	rs1443795367	missense variant	-	NC_000001.11:g.26951383C>T	gnomAD
KDF1	Q8NAX2	p.Thr337Ile	rs1161711556	missense variant	-	NC_000001.11:g.26951371G>A	gnomAD
KDF1	Q8NAX2	p.Met338Thr	rs767189794	missense variant	-	NC_000001.11:g.26951368A>G	ExAC,gnomAD
KDF1	Q8NAX2	p.Gly340Asp	rs759180556	missense variant	-	NC_000001.11:g.26951362C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Gly342Asp	rs774065018	missense variant	-	NC_000001.11:g.26951356C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Thr349Ile	rs1463908338	missense variant	-	NC_000001.11:g.26950750G>A	gnomAD
KDF1	Q8NAX2	p.Thr349Arg	rs1463908338	missense variant	-	NC_000001.11:g.26950750G>C	gnomAD
KDF1	Q8NAX2	p.Thr349Lys	rs1463908338	missense variant	-	NC_000001.11:g.26950750G>T	gnomAD
KDF1	Q8NAX2	p.Gln351His	rs370854419	missense variant	-	NC_000001.11:g.26950743C>G	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Gln351Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26950744T>C	NCI-TCGA
KDF1	Q8NAX2	p.Thr356Met	rs751208270	missense variant	-	NC_000001.11:g.26950729G>A	ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Thr357Ser	rs1327048298	missense variant	-	NC_000001.11:g.26950727T>A	gnomAD
KDF1	Q8NAX2	p.Ala360Val	rs1433039862	missense variant	-	NC_000001.11:g.26950717G>A	gnomAD
KDF1	Q8NAX2	p.Ala362Thr	rs1338685304	missense variant	-	NC_000001.11:g.26950712C>T	gnomAD
KDF1	Q8NAX2	p.Arg363Gly	rs769873686	missense variant	-	NC_000001.11:g.26950709G>C	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg363Gln	rs761818314	missense variant	-	NC_000001.11:g.26950708C>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Arg363Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26950708C>A	NCI-TCGA
KDF1	Q8NAX2	p.Pro367Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26950697G>A	NCI-TCGA
KDF1	Q8NAX2	p.Ala370Thr	rs376717814	missense variant	-	NC_000001.11:g.26950688C>T	ESP,ExAC,gnomAD
KDF1	Q8NAX2	p.Ala370Val	rs746135711	missense variant	-	NC_000001.11:g.26950687G>A	ExAC
KDF1	Q8NAX2	p.Pro371Leu	rs1191811766	missense variant	-	NC_000001.11:g.26950684G>A	gnomAD
KDF1	Q8NAX2	p.Gly372Glu	rs1361176121	missense variant	-	NC_000001.11:g.26950151C>T	TOPMed
KDF1	Q8NAX2	p.Pro374Ser	rs184302730	missense variant	-	NC_000001.11:g.26950146G>A	1000Genomes,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala375Glu	rs755395860	missense variant	-	NC_000001.11:g.26950142G>T	ExAC,gnomAD
KDF1	Q8NAX2	p.Ser376Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26950139C>G	NCI-TCGA
KDF1	Q8NAX2	p.His377Arg	rs1412246723	missense variant	-	NC_000001.11:g.26950136T>C	gnomAD
KDF1	Q8NAX2	p.Ser379Leu	rs779407973	missense variant	-	NC_000001.11:g.26950130G>A	ExAC,gnomAD
KDF1	Q8NAX2	p.Ser379Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.26950130G>C	NCI-TCGA
KDF1	Q8NAX2	p.Ser380Pro	rs201399957	missense variant	-	NC_000001.11:g.26950128A>G	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Phe381Ser	rs1180230314	missense variant	-	NC_000001.11:g.26950124A>G	gnomAD
KDF1	Q8NAX2	p.Gly383Asp	rs144075796	missense variant	-	NC_000001.11:g.26950118C>T	ESP,ExAC,gnomAD
KDF1	Q8NAX2	p.Asp385Asn	rs200294153	missense variant	-	NC_000001.11:g.26950113C>T	1000Genomes,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Thr386Lys	rs1450005457	missense variant	-	NC_000001.11:g.26950109G>T	gnomAD
KDF1	Q8NAX2	p.Ser388Leu	rs374830839	missense variant	-	NC_000001.11:g.26950103G>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ser388Trp	COSM4854553	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26950103G>C	NCI-TCGA Cosmic
KDF1	Q8NAX2	p.Ser389Leu	rs369560483	missense variant	-	NC_000001.11:g.26950100G>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala391Ser	rs139710191	missense variant	-	NC_000001.11:g.26950095C>A	ESP,ExAC,TOPMed,gnomAD
KDF1	Q8NAX2	p.Ala391Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26950095C>T	NCI-TCGA
KDF1	Q8NAX2	p.Pro392Arg	rs1346981782	missense variant	-	NC_000001.11:g.26950091G>C	gnomAD
KDF1	Q8NAX2	p.Leu394Phe	rs201673543	missense variant	-	NC_000001.11:g.26950086G>A	TOPMed
KDF1	Q8NAX2	p.Val396Met	rs769933905	missense variant	-	NC_000001.11:g.26950080C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ala2Ser	rs1282885686	missense variant	-	NC_000019.10:g.17555717G>T	TOPMed
COLGALT1	Q8NBJ5	p.Ala3Val	rs894299582	missense variant	-	NC_000019.10:g.17555721C>T	TOPMed
COLGALT1	Q8NBJ5	p.Ala4Thr	rs1330740104	missense variant	-	NC_000019.10:g.17555723G>A	TOPMed
COLGALT1	Q8NBJ5	p.Pro5Ser	rs1012740258	missense variant	-	NC_000019.10:g.17555726C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala7Gly	rs1449330996	missense variant	-	NC_000019.10:g.17555733C>G	TOPMed
COLGALT1	Q8NBJ5	p.Ala7Pro	rs1286351396	missense variant	-	NC_000019.10:g.17555732G>C	TOPMed
COLGALT1	Q8NBJ5	p.Arg10Pro	rs1015946992	missense variant	-	NC_000019.10:g.17555742G>C	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg11Cys	rs898945714	missense variant	-	NC_000019.10:g.17555744C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg11Gly	rs898945714	missense variant	-	NC_000019.10:g.17555744C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly12Arg	rs1026000317	missense variant	-	NC_000019.10:g.17555747G>C	TOPMed
COLGALT1	Q8NBJ5	p.Gly12Arg	rs1026000317	missense variant	-	NC_000019.10:g.17555747G>A	TOPMed
COLGALT1	Q8NBJ5	p.Gln13His	rs1415343991	missense variant	-	NC_000019.10:g.17555752G>T	TOPMed
COLGALT1	Q8NBJ5	p.Pro14Leu	rs1207726925	missense variant	-	NC_000019.10:g.17555754C>T	gnomAD
COLGALT1	Q8NBJ5	p.Pro14Ser	rs955092262	missense variant	-	NC_000019.10:g.17555753C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu15Phe	rs1473075564	missense variant	-	NC_000019.10:g.17555756C>T	TOPMed
COLGALT1	Q8NBJ5	p.Leu16Pro	rs1465226468	missense variant	-	NC_000019.10:g.17555760T>C	gnomAD
COLGALT1	Q8NBJ5	p.Leu16Val	rs1357137537	missense variant	-	NC_000019.10:g.17555759C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala17Glu	rs987750259	missense variant	-	NC_000019.10:g.17555763C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu22Pro	rs1465812588	missense variant	-	NC_000019.10:g.17555778T>C	TOPMed
COLGALT1	Q8NBJ5	p.Leu22Met	rs1461937998	missense variant	-	NC_000019.10:g.17555777C>A	gnomAD
COLGALT1	Q8NBJ5	p.Pro27Leu	rs1332248562	missense variant	-	NC_000019.10:g.17555793C>T	TOPMed
COLGALT1	Q8NBJ5	p.Pro27Thr	rs1236594578	missense variant	-	NC_000019.10:g.17555792C>A	gnomAD
COLGALT1	Q8NBJ5	p.Pro28Ser	rs1292443014	missense variant	-	NC_000019.10:g.17555795C>T	TOPMed
COLGALT1	Q8NBJ5	p.Gly29Arg	rs1229290438	missense variant	-	NC_000019.10:g.17555798G>C	TOPMed
COLGALT1	Q8NBJ5	p.Gly29Glu	rs1159262236	missense variant	-	NC_000019.10:g.17555799G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala30Val	rs964873130	missense variant	-	NC_000019.10:g.17555802C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro31Ser	rs1325340430	missense variant	-	NC_000019.10:g.17555804C>T	TOPMed
COLGALT1	Q8NBJ5	p.Pro31Gln	rs1438919919	missense variant	-	NC_000019.10:g.17555805C>A	TOPMed
COLGALT1	Q8NBJ5	p.Pro32Arg	rs1179027745	missense variant	-	NC_000019.10:g.17555808C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro32Leu	rs1179027745	missense variant	-	NC_000019.10:g.17555808C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly33Val	rs989671669	missense variant	-	NC_000019.10:g.17555811G>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala36Thr	rs1330214620	missense variant	-	NC_000019.10:g.17555819G>A	gnomAD
COLGALT1	Q8NBJ5	p.Tyr37Cys	rs1374240270	missense variant	-	NC_000019.10:g.17555823A>G	gnomAD
COLGALT1	Q8NBJ5	p.Phe38Leu	rs7259723	missense variant	-	NC_000019.10:g.17555827C>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro39His	rs1279676698	missense variant	-	NC_000019.10:g.17555829C>A	gnomAD
COLGALT1	Q8NBJ5	p.Pro39Ser	rs1451286345	missense variant	-	NC_000019.10:g.17555828C>T	TOPMed
COLGALT1	Q8NBJ5	p.Glu40Gly	rs978458440	missense variant	-	NC_000019.10:g.17555832A>G	TOPMed
COLGALT1	Q8NBJ5	p.Glu40Lys	rs766525393	missense variant	-	NC_000019.10:g.17555831G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg42Cys	rs1197800903	missense variant	-	NC_000019.10:g.17555837C>T	gnomAD
COLGALT1	Q8NBJ5	p.Arg42His	rs1013121754	missense variant	-	NC_000019.10:g.17555838G>A	TOPMed
COLGALT1	Q8NBJ5	p.Arg42Ser	rs1197800903	missense variant	-	NC_000019.10:g.17555837C>A	gnomAD
COLGALT1	Q8NBJ5	p.Trp43Ter	rs1439828052	stop gained	-	NC_000019.10:g.17555842G>A	gnomAD
COLGALT1	Q8NBJ5	p.Pro45Thr	rs1229465169	missense variant	-	NC_000019.10:g.17555846C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro45Leu	rs1437549251	missense variant	-	NC_000019.10:g.17555847C>T	TOPMed
COLGALT1	Q8NBJ5	p.Glu46Asp	rs1231209159	missense variant	-	NC_000019.10:g.17555851G>C	TOPMed
COLGALT1	Q8NBJ5	p.Pro48His	rs1477086485	missense variant	-	NC_000019.10:g.17555856C>A	gnomAD
COLGALT1	Q8NBJ5	p.Gln50Arg	rs1024052482	missense variant	-	NC_000019.10:g.17555862A>G	gnomAD
COLGALT1	Q8NBJ5	p.Gln50Ter	rs1202157440	stop gained	-	NC_000019.10:g.17555861C>T	gnomAD
COLGALT1	Q8NBJ5	p.Gln50Leu	rs1024052482	missense variant	-	NC_000019.10:g.17555862A>T	gnomAD
COLGALT1	Q8NBJ5	p.Ala51Val	rs1302741369	missense variant	-	NC_000019.10:g.17555865C>T	TOPMed
COLGALT1	Q8NBJ5	p.Ala51Thr	rs1310715530	missense variant	-	NC_000019.10:g.17555864G>A	gnomAD
COLGALT1	Q8NBJ5	p.Pro52Leu	rs1169033126	missense variant	-	NC_000019.10:g.17555868C>T	gnomAD
COLGALT1	Q8NBJ5	p.Pro52Ser	rs1465396700	missense variant	-	NC_000019.10:g.17555867C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg53Cys	rs1393843223	missense variant	-	NC_000019.10:g.17555870C>T	gnomAD
COLGALT1	Q8NBJ5	p.Leu55Phe	rs1294401883	missense variant	-	NC_000019.10:g.17555876C>T	TOPMed
COLGALT1	Q8NBJ5	p.Ile56Met	rs998480369	missense variant	-	NC_000019.10:g.17555881C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala57Pro	rs1486708765	missense variant	-	NC_000019.10:g.17555882G>C	gnomAD
COLGALT1	Q8NBJ5	p.Ala60Pro	rs1250995744	missense variant	-	NC_000019.10:g.17555891G>C	gnomAD
COLGALT1	Q8NBJ5	p.Asn62Lys	rs563277874	missense variant	-	NC_000019.10:g.17555899C>G	1000Genomes,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala63Thr	rs1431007599	missense variant	-	NC_000019.10:g.17555900G>A	TOPMed
COLGALT1	Q8NBJ5	p.His65Gln	rs1057044165	missense variant	-	NC_000019.10:g.17555908C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.His65Tyr	rs1422778466	missense variant	-	NC_000019.10:g.17555906C>T	gnomAD
COLGALT1	Q8NBJ5	p.Ala66Thr	rs1402573620	missense variant	-	NC_000019.10:g.17555909G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala66Glu	rs1231485928	missense variant	-	NC_000019.10:g.17555910C>A	TOPMed
COLGALT1	Q8NBJ5	p.Thr70Arg	rs1396445903	missense variant	-	NC_000019.10:g.17555922C>G	gnomAD
COLGALT1	Q8NBJ5	p.Leu71Pro	rs1217765858	missense variant	-	NC_000019.10:g.17555925T>C	gnomAD
COLGALT1	Q8NBJ5	p.Arg78Gln	rs1280328141	missense variant	-	NC_000019.10:g.17555946G>A	TOPMed
COLGALT1	Q8NBJ5	p.Pro80Ser	rs1208804272	missense variant	-	NC_000019.10:g.17555951C>T	TOPMed
COLGALT1	Q8NBJ5	p.Pro80Arg	rs746478240	missense variant	-	NC_000019.10:g.17555952C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro80Leu	rs746478240	missense variant	-	NC_000019.10:g.17555952C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg83Leu	rs1289452027	missense variant	-	NC_000019.10:g.17555961G>T	gnomAD
COLGALT1	Q8NBJ5	p.Thr84Met	rs990071220	missense variant	-	NC_000019.10:g.17555964C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu86Val	rs1443533147	missense variant	-	NC_000019.10:g.17555969C>G	gnomAD
COLGALT1	Q8NBJ5	p.Ala89Val	rs749884457	missense variant	-	NC_000019.10:g.17559316C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala89Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17559315G>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Thr90Met	rs368847314	missense variant	-	NC_000019.10:g.17559319C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp95Val	rs1488245407	missense variant	-	NC_000019.10:g.17559334A>T	gnomAD
COLGALT1	Q8NBJ5	p.Asp95Gly	rs1488245407	missense variant	-	NC_000019.10:g.17559334A>G	gnomAD
COLGALT1	Q8NBJ5	p.Thr97Met	rs1214999229	missense variant	-	NC_000019.10:g.17559340C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Thr99Ala	rs202232301	missense variant	-	NC_000019.10:g.17559345A>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu101Pro	rs1367498384	missense variant	-	NC_000019.10:g.17559352T>C	gnomAD
COLGALT1	Q8NBJ5	p.Arg102Gln	rs972770752	missense variant	-	NC_000019.10:g.17559355G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg102Trp	rs377086776	missense variant	-	NC_000019.10:g.17559354C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu103Lys	rs1385242208	missense variant	-	NC_000019.10:g.17559357G>A	gnomAD
COLGALT1	Q8NBJ5	p.Val106Gly	rs772575752	missense variant	-	NC_000019.10:g.17559367T>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val106Ala	rs772575752	missense variant	-	NC_000019.10:g.17559367T>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ala107Gly	rs773716293	missense variant	-	NC_000019.10:g.17559370C>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val108Met	rs144331541	missense variant	-	NC_000019.10:g.17559372G>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val108Leu	rs144331541	missense variant	-	NC_000019.10:g.17559372G>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser110Asn	rs759842843	missense variant	-	NC_000019.10:g.17559379G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ser114Phe	rs1200229778	missense variant	-	NC_000019.10:g.17559391C>T	gnomAD
COLGALT1	Q8NBJ5	p.Val115Met	rs1462939279	missense variant	-	NC_000019.10:g.17559393G>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Val115Met	rs1462939279	missense variant	-	NC_000019.10:g.17559393G>A	gnomAD
COLGALT1	Q8NBJ5	p.Glu116Ala	rs1195791824	missense variant	-	NC_000019.10:g.17559397A>C	TOPMed
COLGALT1	Q8NBJ5	p.Trp117Ter	rs1243402556	stop gained	-	NC_000019.10:g.17559401G>A	gnomAD
COLGALT1	Q8NBJ5	p.Arg118Trp	rs868703099	missense variant	-	NC_000019.10:g.17559402C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg118Gln	rs1006607510	missense variant	-	NC_000019.10:g.17559403G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala120Gly	rs1454297119	missense variant	-	NC_000019.10:g.17559409C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala120Thr	rs1189076427	missense variant	-	NC_000019.10:g.17559408G>A	TOPMed
COLGALT1	Q8NBJ5	p.Ala120Glu	rs1454297119	missense variant	-	NC_000019.10:g.17559409C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu121Lys	rs1403538703	missense variant	-	NC_000019.10:g.17559411G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu122Gly	rs1260496310	missense variant	-	NC_000019.10:g.17559415A>G	TOPMed
COLGALT1	Q8NBJ5	p.Pro123Ser	rs1337578933	missense variant	-	NC_000019.10:g.17559417C>T	gnomAD
COLGALT1	Q8NBJ5	p.Pro123Ser	rs1337578933	missense variant	-	NC_000019.10:g.17559417C>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Arg124Ser	rs1266647832	missense variant	-	NC_000019.10:g.17560348G>C	gnomAD
COLGALT1	Q8NBJ5	p.Ser125Pro	rs1481404600	missense variant	-	NC_000019.10:g.17560349T>C	gnomAD
COLGALT1	Q8NBJ5	p.Tyr126Phe	rs1199863939	missense variant	-	NC_000019.10:g.17560353A>T	gnomAD
COLGALT1	Q8NBJ5	p.Pro127Leu	rs139134591	missense variant	-	NC_000019.10:g.17560356C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp128Val	rs375454169	missense variant	-	NC_000019.10:g.17560359A>T	ESP
COLGALT1	Q8NBJ5	p.Glu129Lys	rs139132596	missense variant	-	NC_000019.10:g.17560361G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu130Lys	rs1457446114	missense variant	-	NC_000019.10:g.17560364G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly131Cys	rs1301428927	missense variant	-	NC_000019.10:g.17560367G>T	gnomAD
COLGALT1	Q8NBJ5	p.Pro132Arg	rs747333426	missense variant	-	NC_000019.10:g.17560371C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro132Leu	rs747333426	missense variant	-	NC_000019.10:g.17560371C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro132Ala	rs765978092	missense variant	-	NC_000019.10:g.17560370C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Lys133Arg	rs200854203	missense variant	-	NC_000019.10:g.17560374A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Lys133Gln	rs754452834	missense variant	-	NC_000019.10:g.17560373A>C	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.His134Tyr	rs1297219982	missense variant	-	NC_000019.10:g.17560376C>T	gnomAD
COLGALT1	Q8NBJ5	p.His134Gln	rs1463299649	missense variant	-	NC_000019.10:g.17560378C>G	gnomAD
COLGALT1	Q8NBJ5	p.Asp137Tyr	rs752315843	missense variant	-	NC_000019.10:g.17560385G>T	ExAC,TOPMed
COLGALT1	Q8NBJ5	p.Ser138Ter	rs758742455	stop gained	-	NC_000019.10:g.17560389C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser138Leu	rs758742455	missense variant	-	NC_000019.10:g.17560389C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser138Pro	rs1244568958	missense variant	-	NC_000019.10:g.17560388T>C	gnomAD
COLGALT1	Q8NBJ5	p.Arg139Cys	rs143978619	missense variant	-	NC_000019.10:g.17560391C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg139His	rs202070026	missense variant	-	NC_000019.10:g.17560392G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Tyr140His	rs1484749048	missense variant	-	NC_000019.10:g.17560394T>C	gnomAD
COLGALT1	Q8NBJ5	p.Tyr140Ter	rs1188093870	stop gained	-	NC_000019.10:g.17560396C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Tyr140Ter	rs1188093870	stop gained	-	NC_000019.10:g.17560396C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu141Asp	rs1420470672	missense variant	-	NC_000019.10:g.17560399G>C	gnomAD
COLGALT1	Q8NBJ5	p.Glu141Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17560398A>G	NCI-TCGA
COLGALT1	Q8NBJ5	p.Glu141Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17560397G>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.His142Arg	rs745919348	missense variant	-	NC_000019.10:g.17560401A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.His142Pro	rs745919348	missense variant	-	NC_000019.10:g.17560401A>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.His142Arg	rs745919348	missense variant	-	NC_000019.10:g.17560401A>G	NCI-TCGA
COLGALT1	Q8NBJ5	p.His142Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17560401A>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Met144Thr	COSM4687257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17560407T>C	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Met144Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17560408G>C	NCI-TCGA
COLGALT1	Q8NBJ5	p.Arg147His	rs775756264	missense variant	-	NC_000019.10:g.17560416G>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Arg147Cys	rs769784776	missense variant	-	NC_000019.10:g.17560415C>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Arg147Cys	rs769784776	missense variant	-	NC_000019.10:g.17560415C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg147His	rs775756264	missense variant	-	NC_000019.10:g.17560416G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gln148Arg	COSM992821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17560419A>G	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Ala149Glu	rs532508199	missense variant	-	NC_000019.10:g.17560422C>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala150Val	rs189437760	missense variant	-	NC_000019.10:g.17560425C>T	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Leu151Arg	RCV000761581	missense variant	BRAIN SMALL VESSEL DISEASE 3 (BSVD3)	NC_000019.10:g.17560428T>G	ClinVar
COLGALT1	Q8NBJ5	p.Leu151Arg	rs1478523191	missense variant	Brain small vessel disease 3 (BSVD3)	NC_000019.10:g.17560428T>G	UniProt,dbSNP
COLGALT1	Q8NBJ5	p.Leu151Arg	VAR_081752	missense variant	Brain small vessel disease 3 (BSVD3)	NC_000019.10:g.17560428T>G	UniProt
COLGALT1	Q8NBJ5	p.Leu151Arg	rs1478523191	missense variant	-	NC_000019.10:g.17560428T>G	-
COLGALT1	Q8NBJ5	p.Ser153Leu	rs894125455	missense variant	-	NC_000019.10:g.17560434C>T	TOPMed
COLGALT1	Q8NBJ5	p.Ala154Pro	RCV000761583	missense variant	BRAIN SMALL VESSEL DISEASE 3 (BSVD3)	NC_000019.10:g.17560436G>C	ClinVar
COLGALT1	Q8NBJ5	p.Ala154Gly	rs776469405	missense variant	-	NC_000019.10:g.17560437C>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ala154Ser	rs181844791	missense variant	-	NC_000019.10:g.17560436G>T	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ala154Val	rs776469405	missense variant	-	NC_000019.10:g.17560437C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ala154Pro	rs181844791	missense variant	-	NC_000019.10:g.17560436G>C	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg155Gly	rs142311552	missense variant	-	NC_000019.10:g.17560439C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg155Pro	rs368177259	missense variant	-	NC_000019.10:g.17560440G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg155Gln	rs368177259	missense variant	-	NC_000019.10:g.17560440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp156Val	rs1166165520	missense variant	-	NC_000019.10:g.17560443A>T	gnomAD
COLGALT1	Q8NBJ5	p.Met157Val	rs1315110012	missense variant	-	NC_000019.10:g.17560445A>G	gnomAD
COLGALT1	Q8NBJ5	p.Met157Leu	rs1315110012	missense variant	-	NC_000019.10:g.17560445A>C	gnomAD
COLGALT1	Q8NBJ5	p.Met157Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17560446T>G	NCI-TCGA
COLGALT1	Q8NBJ5	p.Leu163Val	rs764429704	missense variant	-	NC_000019.10:g.17560463C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala167Val	rs149722085	missense variant	-	NC_000019.10:g.17567416C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala167Gly	rs149722085	missense variant	-	NC_000019.10:g.17567416C>G	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala167Thr	rs1407832582	missense variant	-	NC_000019.10:g.17567415G>A	gnomAD
COLGALT1	Q8NBJ5	p.Asp168His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17567418G>C	NCI-TCGA
COLGALT1	Q8NBJ5	p.Asn169Ser	rs572655280	missense variant	-	NC_000019.10:g.17567422A>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu172Phe	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17567430C>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Asn173Ser	rs755142919	missense variant	-	NC_000019.10:g.17567434A>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro174Thr	rs1242223408	missense variant	-	NC_000019.10:g.17567436C>A	TOPMed
COLGALT1	Q8NBJ5	p.Leu177Val	rs1344847224	missense variant	-	NC_000019.10:g.17567445C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu180Phe	rs535283675	missense variant	-	NC_000019.10:g.17567454C>T	1000Genomes
COLGALT1	Q8NBJ5	p.Ala182Thr	rs770728745	missense variant	-	NC_000019.10:g.17567460G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Glu183Lys	rs1195377173	missense variant	-	NC_000019.10:g.17567463G>A	gnomAD
COLGALT1	Q8NBJ5	p.Asn184Asp	rs1271161729	missense variant	-	NC_000019.10:g.17567466A>G	gnomAD
COLGALT1	Q8NBJ5	p.Thr186Met	rs1439595039	missense variant	-	NC_000019.10:g.17567473C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val187Ala	rs201581562	missense variant	-	NC_000019.10:g.17567476T>C	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val187Met	rs769561526	missense variant	-	NC_000019.10:g.17567475G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ala189Thr	rs747606083	missense variant	-	NC_000019.10:g.17567481G>A	gnomAD
COLGALT1	Q8NBJ5	p.Ala189Val	rs1317761576	missense variant	-	NC_000019.10:g.17567482C>T	TOPMed
COLGALT1	Q8NBJ5	p.Pro190His	rs773961516	missense variant	-	NC_000019.10:g.17567485C>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Pro190Ala	rs768204073	missense variant	-	NC_000019.10:g.17567484C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro190Ser	rs768204073	missense variant	-	NC_000019.10:g.17567484C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro190Arg	rs773961516	missense variant	-	NC_000019.10:g.17567485C>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Met191Val	rs1031056049	missense variant	-	NC_000019.10:g.17567487A>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu192Pro	rs1416980087	missense variant	-	NC_000019.10:g.17567491T>C	gnomAD
COLGALT1	Q8NBJ5	p.Arg195Gln	rs767908658	missense variant	-	NC_000019.10:g.17567500G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg195Trp	rs761435653	missense variant	-	NC_000019.10:g.17567499C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala196Pro	rs750693197	missense variant	-	NC_000019.10:g.17567502G>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ala197Gly	rs761108171	missense variant	-	NC_000019.10:g.17567506C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala197Glu	rs761108171	missense variant	-	NC_000019.10:g.17567506C>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala197Val	rs761108171	missense variant	-	NC_000019.10:g.17567506C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser199Cys	COSM4854403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17567512C>G	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Asn200Ser	rs1053205642	missense variant	-	NC_000019.10:g.17567515A>G	TOPMed
COLGALT1	Q8NBJ5	p.Trp202Cys	COSM3530405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17567522G>C	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Trp202Arg	rs1399323743	missense variant	-	NC_000019.10:g.17567520T>A	TOPMed
COLGALT1	Q8NBJ5	p.Thr206Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17567532A>G	NCI-TCGA
COLGALT1	Q8NBJ5	p.Gly209Val	rs1390283521	missense variant	-	NC_000019.10:g.17568510G>T	TOPMed
COLGALT1	Q8NBJ5	p.Tyr210Cys	rs372885942	missense variant	-	NC_000019.10:g.17568513A>G	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Tyr211Cys	rs375611652	missense variant	-	NC_000019.10:g.17568516A>G	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Tyr211His	rs1453055239	missense variant	-	NC_000019.10:g.17568515T>C	gnomAD
COLGALT1	Q8NBJ5	p.Arg213Cys	rs772721847	missense variant	-	NC_000019.10:g.17568521C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg213His	rs746718728	missense variant	-	NC_000019.10:g.17568522G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Thr214Ile	rs771418089	missense variant	-	NC_000019.10:g.17568525C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Thr214Ala	rs1231514755	missense variant	-	NC_000019.10:g.17568524A>G	TOPMed
COLGALT1	Q8NBJ5	p.Pro215Leu	rs1207296404	missense variant	-	NC_000019.10:g.17568528C>T	TOPMed
COLGALT1	Q8NBJ5	p.Pro215Ala	rs370240931	missense variant	-	NC_000019.10:g.17568527C>G	ESP,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Tyr217Cys	rs1483645587	missense variant	-	NC_000019.10:g.17568534A>G	TOPMed
COLGALT1	Q8NBJ5	p.Ile218Val	rs759994455	missense variant	-	NC_000019.10:g.17568536A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ile220Val	rs776085467	missense variant	-	NC_000019.10:g.17568542A>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg221Leu	rs200477437	missense variant	-	NC_000019.10:g.17568546G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg221His	rs200477437	missense variant	-	NC_000019.10:g.17568546G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg221Cys	rs1012437941	missense variant	-	NC_000019.10:g.17568545C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg221Gly	rs1012437941	missense variant	-	NC_000019.10:g.17568545C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Lys222Gln	rs149170420	missense variant	-	NC_000019.10:g.17568548A>C	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg223Gln	rs1002620025	missense variant	-	NC_000019.10:g.17568552G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg223Ter	rs888552889	stop gained	-	NC_000019.10:g.17568551C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg225His	rs1459747920	missense variant	-	NC_000019.10:g.17568558G>A	gnomAD
COLGALT1	Q8NBJ5	p.Arg225Cys	rs142308296	missense variant	-	NC_000019.10:g.17568557C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg225Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17568558G>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Arg226Gln	rs147899199	missense variant	-	NC_000019.10:g.17568561G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg226Trp	rs767735851	missense variant	-	NC_000019.10:g.17568560C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Cys228Arg	rs1376732036	missense variant	-	NC_000019.10:g.17568566T>C	TOPMed
COLGALT1	Q8NBJ5	p.Ala230Val	rs1179513837	missense variant	-	NC_000019.10:g.17568573C>T	gnomAD
COLGALT1	Q8NBJ5	p.Pro232Leu	COSM2153644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17568579C>T	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Pro232His	rs757819968	missense variant	-	NC_000019.10:g.17568579C>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Met233Val	rs777413266	missense variant	-	NC_000019.10:g.17568581A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.His235Arg	rs1471115740	missense variant	-	NC_000019.10:g.17568588A>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser236Leu	rs770651241	missense variant	-	NC_000019.10:g.17568591C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Thr237Ile	rs1351700073	missense variant	-	NC_000019.10:g.17568594C>T	gnomAD
COLGALT1	Q8NBJ5	p.Thr237Pro	rs746197010	missense variant	-	NC_000019.10:g.17568593A>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Thr237Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17568593A>G	NCI-TCGA
COLGALT1	Q8NBJ5	p.Ile240Met	rs770328706	missense variant	-	NC_000019.10:g.17568604C>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Asp241His	rs370797013	missense variant	-	NC_000019.10:g.17568605G>C	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp241Asn	rs370797013	missense variant	-	NC_000019.10:g.17568605G>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu242Val	rs763582439	missense variant	-	NC_000019.10:g.17568608C>G	ExAC,TOPMed
COLGALT1	Q8NBJ5	p.Leu242Pro	rs1337347081	missense variant	-	NC_000019.10:g.17568609T>C	gnomAD
COLGALT1	Q8NBJ5	p.Arg243Trp	rs141574019	missense variant	-	NC_000019.10:g.17568611C>T	ESP,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg243Gln	rs368389857	missense variant	-	NC_000019.10:g.17568612G>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala245Val	rs201119112	missense variant	-	NC_000019.10:g.17568618C>T	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala246Val	rs759308497	missense variant	-	NC_000019.10:g.17568621C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ser247Ala	rs752577249	missense variant	-	NC_000019.10:g.17568623T>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu250Pro	rs879703663	missense variant	-	NC_000019.10:g.17568633T>C	TOPMed
COLGALT1	Q8NBJ5	p.Ala251Gly	rs147034710	missense variant	-	NC_000019.10:g.17568636C>G	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Phe252Leu	rs1300029410	missense variant	-	NC_000019.10:g.17568640C>G	gnomAD
COLGALT1	Q8NBJ5	p.Phe252Ser	rs756861394	missense variant	-	NC_000019.10:g.17568639T>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Phe252Val	rs751048049	missense variant	-	NC_000019.10:g.17568638T>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Tyr253Cys	rs138583714	missense variant	-	NC_000019.10:g.17568642A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro255His	COSM4075403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17568648C>A	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Pro257Ser	rs749623821	missense variant	-	NC_000019.10:g.17568653C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Pro257Thr	COSM4075404	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17568653C>A	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Pro257Arg	rs769137234	missense variant	-	NC_000019.10:g.17568654C>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Asp258Asn	rs1306605837	missense variant	-	NC_000019.10:g.17568656G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Trp261Ter	rs1356863369	stop gained	-	NC_000019.10:g.17568667G>A	TOPMed
COLGALT1	Q8NBJ5	p.Asp265Asn	rs772191035	missense variant	-	NC_000019.10:g.17568677G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ile266Asn	rs1266715275	missense variant	-	NC_000019.10:g.17568681T>A	gnomAD
COLGALT1	Q8NBJ5	p.Ile266Val	rs1221580957	missense variant	-	NC_000019.10:g.17568680A>G	gnomAD
COLGALT1	Q8NBJ5	p.Ile267Val	rs1489317357	missense variant	-	NC_000019.10:g.17568683A>G	gnomAD
COLGALT1	Q8NBJ5	p.Val268Ile	rs760958066	missense variant	-	NC_000019.10:g.17568686G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala270Val	rs374143153	missense variant	-	NC_000019.10:g.17568693C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala270Asp	rs374143153	missense variant	-	NC_000019.10:g.17568693C>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser272Pro	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17568698T>C	NCI-TCGA
COLGALT1	Q8NBJ5	p.Cys273Gly	rs1417562889	missense variant	-	NC_000019.10:g.17568701T>G	TOPMed
COLGALT1	Q8NBJ5	p.Cys273Ter	rs1172809054	stop gained	-	NC_000019.10:g.17568703C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala276Glu	rs762661375	missense variant	-	NC_000019.10:g.17568711C>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala276Thr	rs775298201	missense variant	-	NC_000019.10:g.17568710G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ala276Val	rs762661375	missense variant	-	NC_000019.10:g.17568711C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gln279His	rs138875135	missense variant	-	NC_000019.10:g.17572490G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val282Glu	rs761898210	missense variant	-	NC_000019.10:g.17572498T>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asn284Ser	rs1268979044	missense variant	-	NC_000019.10:g.17572504A>G	gnomAD
COLGALT1	Q8NBJ5	p.Lys285Glu	rs367624139	missense variant	-	NC_000019.10:g.17572506A>G	1000Genomes,ESP,ExAC,TOPMed
COLGALT1	Q8NBJ5	p.Lys285Arg	rs749882172	missense variant	-	NC_000019.10:g.17572507A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Gly289Arg	rs1473176378	missense variant	-	NC_000019.10:g.17572518G>A	gnomAD
COLGALT1	Q8NBJ5	p.Pro292Ala	rs149400191	missense variant	-	NC_000019.10:g.17572527C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro292Thr	rs149400191	missense variant	-	NC_000019.10:g.17572527C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val293Leu	rs571016892	missense variant	-	NC_000019.10:g.17572530G>T	1000Genomes
COLGALT1	Q8NBJ5	p.Pro294Ser	COSM1391489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17572533C>T	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Arg296Cys	rs536730145	missense variant	-	NC_000019.10:g.17572539C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg296His	rs1473759762	missense variant	-	NC_000019.10:g.17572540G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala297Thr	rs748644675	missense variant	-	NC_000019.10:g.17572542G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ser299Arg	rs758848927	missense variant	-	NC_000019.10:g.17572550C>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ser299Asn	rs1468903937	missense variant	-	NC_000019.10:g.17572549G>A	gnomAD
COLGALT1	Q8NBJ5	p.Thr300Ile	rs554052501	missense variant	-	NC_000019.10:g.17572552C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu301Phe	COSM4512401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17572554C>T	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Leu301Val	rs1448158879	missense variant	-	NC_000019.10:g.17572554C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu301Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17572554C>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Asp303His	rs1297504584	missense variant	-	NC_000019.10:g.17572560G>C	gnomAD
COLGALT1	Q8NBJ5	p.Ala305Val	rs770940424	missense variant	-	NC_000019.10:g.17572567C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Glu306Lys	rs768557609	missense variant	-	NC_000019.10:g.17572569G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ser307Gly	rs774229904	missense variant	-	NC_000019.10:g.17572572A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Met309Thr	rs772090628	missense variant	-	NC_000019.10:g.17572579T>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val311Leu	rs140014363	missense variant	-	NC_000019.10:g.17572584G>T	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Gln312Arg	rs1203966034	missense variant	-	NC_000019.10:g.17572588A>G	gnomAD
COLGALT1	Q8NBJ5	p.Leu313Pro	rs372832557	missense variant	-	NC_000019.10:g.17572591T>C	ESP,TOPMed
COLGALT1	Q8NBJ5	p.Val315Ile	rs760208391	missense variant	-	NC_000019.10:g.17572596G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Met316Ile	rs1183540949	missense variant	-	NC_000019.10:g.17572601G>C	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val317Leu	rs1363853791	missense variant	-	NC_000019.10:g.17572602G>C	gnomAD
COLGALT1	Q8NBJ5	p.Lys318Thr	rs977372621	missense variant	-	NC_000019.10:g.17577198A>C	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Lys318Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17577199G>C	NCI-TCGA
COLGALT1	Q8NBJ5	p.His319Gln	rs1384522522	missense variant	-	NC_000019.10:g.17577202C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.His319Tyr	rs531783031	missense variant	-	NC_000019.10:g.17577200C>T	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.His319Arg	rs1188697442	missense variant	-	NC_000019.10:g.17577201A>G	gnomAD
COLGALT1	Q8NBJ5	p.Pro320Leu	rs780399866	missense variant	-	NC_000019.10:g.17577204C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro320Thr	rs756284913	missense variant	-	NC_000019.10:g.17577203C>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro320Arg	rs780399866	missense variant	-	NC_000019.10:g.17577204C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro320Gln	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17577204C>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Pro321Ser	rs749560380	missense variant	-	NC_000019.10:g.17577206C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala322Thr	rs142395967	missense variant	-	NC_000019.10:g.17577209G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala322Ser	rs142395967	missense variant	-	NC_000019.10:g.17577209G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg326Cys	rs371286780	missense variant	-	NC_000019.10:g.17577221C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ile328Met	rs1314534642	missense variant	-	NC_000019.10:g.17577229C>G	gnomAD
COLGALT1	Q8NBJ5	p.Ser329TerTerTyrUnk	rs1338776597	stop gained	-	NC_000019.10:g.17577230_17577231insAATGATA	gnomAD
COLGALT1	Q8NBJ5	p.Ser329Leu	rs564381887	missense variant	-	NC_000019.10:g.17577231C>T	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser329Trp	rs564381887	missense variant	-	NC_000019.10:g.17577231C>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser329Ter	rs564381887	stop gained	-	NC_000019.10:g.17577231C>A	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala330Thr	rs908949923	missense variant	-	NC_000019.10:g.17577233G>A	TOPMed
COLGALT1	Q8NBJ5	p.Pro331Thr	rs992934960	missense variant	-	NC_000019.10:g.17577236C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro331Ala	rs992934960	missense variant	-	NC_000019.10:g.17577236C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Lys333Ter	rs879219144	stop gained	-	NC_000019.10:g.17577242A>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Lys333Glu	rs879219144	missense variant	-	NC_000019.10:g.17577242A>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro335Ser	rs769345474	missense variant	-	NC_000019.10:g.17577248C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Pro335Gln	rs1174007451	missense variant	-	NC_000019.10:g.17577249C>A	TOPMed
COLGALT1	Q8NBJ5	p.Lys337Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17577256G>C	NCI-TCGA
COLGALT1	Q8NBJ5	p.Met338Ile	rs1199927154	missense variant	-	NC_000019.10:g.17577259G>A	TOPMed
COLGALT1	Q8NBJ5	p.Met338Arg	rs1426076827	missense variant	-	NC_000019.10:g.17577258T>G	TOPMed
COLGALT1	Q8NBJ5	p.Asp341Glu	rs145927102	missense variant	-	NC_000019.10:g.17577268C>G	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp341Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17577266G>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Glu342Lys	rs1480898944	missense variant	-	NC_000019.10:g.17577269G>A	TOPMed
COLGALT1	Q8NBJ5	p.Met345Leu	rs1409572040	missense variant	-	NC_000019.10:g.17577367A>T	TOPMed
COLGALT1	Q8NBJ5	p.Met345Val	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17577367A>G	NCI-TCGA
COLGALT1	Q8NBJ5	p.Ile346Asn	rs761321377	missense variant	-	NC_000019.10:g.17577371T>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ile346Met	rs767008591	missense variant	-	NC_000019.10:g.17577372C>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ile346Leu	rs1156676886	missense variant	-	NC_000019.10:g.17577370A>C	gnomAD
COLGALT1	Q8NBJ5	p.Arg349Lys	rs1202873002	missense variant	-	NC_000019.10:g.17577380G>A	gnomAD
COLGALT1	Q8NBJ5	p.Arg350Gln	rs1253933577	missense variant	-	NC_000019.10:g.17577383G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg351Leu	rs886951770	missense variant	-	NC_000019.10:g.17577386G>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg351Trp	rs902377325	missense variant	-	NC_000019.10:g.17577385C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg354Gly	rs1199859597	missense variant	-	NC_000019.10:g.17577394C>G	gnomAD
COLGALT1	Q8NBJ5	p.Arg355Trp	COSM4687259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17577397C>T	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Arg355Gln	rs1463245724	missense variant	-	NC_000019.10:g.17577398G>A	TOPMed
COLGALT1	Q8NBJ5	p.Arg357Cys	rs1312823991	missense variant	-	NC_000019.10:g.17577403C>T	gnomAD
COLGALT1	Q8NBJ5	p.Arg357His	rs753015513	missense variant	-	NC_000019.10:g.17577404G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg360Gln	rs537490809	missense variant	-	NC_000019.10:g.17577413G>A	1000Genomes,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg360Trp	rs756974396	missense variant	-	NC_000019.10:g.17577412C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg360Gly	rs756974396	missense variant	-	NC_000019.10:g.17577412C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gln363Arg	rs1286838076	missense variant	-	NC_000019.10:g.17577422A>G	gnomAD
COLGALT1	Q8NBJ5	p.Ala364Val	rs1316592111	missense variant	-	NC_000019.10:g.17577425C>T	gnomAD
COLGALT1	Q8NBJ5	p.Glu366Ter	RCV000761582	frameshift	BRAIN SMALL VESSEL DISEASE 3 (BSVD3)	NC_000019.10:g.17577430del	ClinVar
COLGALT1	Q8NBJ5	p.Glu366Ala	rs750229387	missense variant	-	NC_000019.10:g.17577431A>C	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu368Lys	rs755975971	missense variant	-	NC_000019.10:g.17577436G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg370Leu	rs1032421349	missense variant	-	NC_000019.10:g.17577443G>T	gnomAD
COLGALT1	Q8NBJ5	p.Arg370Gln	rs1032421349	missense variant	-	NC_000019.10:g.17577443G>A	gnomAD
COLGALT1	Q8NBJ5	p.Glu373Lys	rs1290440605	missense variant	-	NC_000019.10:g.17577451G>A	TOPMed
COLGALT1	Q8NBJ5	p.Val375Met	rs1247684748	missense variant	-	NC_000019.10:g.17577457G>A	gnomAD
COLGALT1	Q8NBJ5	p.Gly377Arg	RCV000761584	missense variant	BRAIN SMALL VESSEL DISEASE 3 (BSVD3)	NC_000019.10:g.17577463G>C	ClinVar
COLGALT1	Q8NBJ5	p.Gly377Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17577464G>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Gly377Arg	VAR_081754	Missense	Brain small vessel disease 3 (BSVD3) [MIM:618360]	-	UniProt
COLGALT1	Q8NBJ5	p.Met380Val	rs377615354	missense variant	-	NC_000019.10:g.17577961A>G	ESP,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Thr382Ser	rs374707500	missense variant	-	NC_000019.10:g.17577968C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Thr382Ala	rs1446694213	missense variant	-	NC_000019.10:g.17577967A>G	gnomAD
COLGALT1	Q8NBJ5	p.Thr382Ile	rs374707500	missense variant	-	NC_000019.10:g.17577968C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser383Gly	rs148691858	missense variant	-	NC_000019.10:g.17577970A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser383Asn	rs771472876	missense variant	-	NC_000019.10:g.17577971G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gln384His	rs1287413685	missense variant	-	NC_000019.10:g.17577975G>C	gnomAD
COLGALT1	Q8NBJ5	p.Ala387Val	rs1230407785	missense variant	-	NC_000019.10:g.17577983C>T	gnomAD
COLGALT1	Q8NBJ5	p.Ala387Thr	rs1326827163	missense variant	-	NC_000019.10:g.17577982G>A	gnomAD
COLGALT1	Q8NBJ5	p.Pro394Leu	rs775570371	missense variant	-	NC_000019.10:g.17578004C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg397Pro	rs372215750	missense variant	-	NC_000019.10:g.17578013G>C	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg397Trp	rs764247645	missense variant	-	NC_000019.10:g.17578012C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg397Gln	rs372215750	missense variant	-	NC_000019.10:g.17578013G>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Tyr400Ter	rs1274660155	stop gained	-	NC_000019.10:g.17578023C>A	TOPMed
COLGALT1	Q8NBJ5	p.His401Leu	rs1160878293	missense variant	-	NC_000019.10:g.17578025A>T	gnomAD
COLGALT1	Q8NBJ5	p.His401Asp	COSM6150146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17578024C>G	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.His401Tyr	rs760430893	missense variant	-	NC_000019.10:g.17578024C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly402Cys	rs1413394794	missense variant	-	NC_000019.10:g.17578027G>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly402Ser	rs1413394794	missense variant	-	NC_000019.10:g.17578027G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly402AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.17578027G>-	NCI-TCGA
COLGALT1	Q8NBJ5	p.Arg403Trp	rs1360393885	missense variant	-	NC_000019.10:g.17578030C>T	gnomAD
COLGALT1	Q8NBJ5	p.Arg403Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17578031G>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Arg403Gln	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17578031G>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Pro404Ala	rs1350013065	missense variant	-	NC_000019.10:g.17578033C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro404Ser	rs1350013065	missense variant	-	NC_000019.10:g.17578033C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Lys407Glu	rs1411470603	missense variant	-	NC_000019.10:g.17578042A>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly411Asp	rs942511633	missense variant	-	NC_000019.10:g.17578055G>A	gnomAD
COLGALT1	Q8NBJ5	p.Phe413Cys	rs765093060	missense variant	-	NC_000019.10:g.17578061T>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu414Val	rs1205015989	missense variant	-	NC_000019.10:g.17578063C>G	gnomAD
COLGALT1	Q8NBJ5	p.Ser415Arg	rs558976439	missense variant	-	NC_000019.10:g.17578068C>A	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.His416Asp	rs1171786347	missense variant	-	NC_000019.10:g.17578069C>G	TOPMed
COLGALT1	Q8NBJ5	p.His416Arg	rs777547163	missense variant	-	NC_000019.10:g.17578070A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Asn418Ile	rs746703670	missense variant	-	NC_000019.10:g.17578076A>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Asn418Thr	rs746703670	missense variant	-	NC_000019.10:g.17578076A>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ile419Val	rs1233092961	missense variant	-	NC_000019.10:g.17578078A>G	gnomAD
COLGALT1	Q8NBJ5	p.Trp420Leu	rs1189110985	missense variant	-	NC_000019.10:g.17578082G>T	gnomAD
COLGALT1	Q8NBJ5	p.Val423Leu	rs374939716	missense variant	-	NC_000019.10:g.17579482G>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val423Ala	rs544877640	missense variant	-	NC_000019.10:g.17579483T>C	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val423Gly	rs544877640	missense variant	-	NC_000019.10:g.17579483T>G	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val424Gly	rs750079479	missense variant	-	NC_000019.10:g.17579486T>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val424Met	rs145212081	missense variant	-	NC_000019.10:g.17579485G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp425Glu	rs150637824	missense variant	-	NC_000019.10:g.17579490C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp425Gly	rs1471676166	missense variant	-	NC_000019.10:g.17579489A>G	gnomAD
COLGALT1	Q8NBJ5	p.Arg426Trp	rs754214674	missense variant	-	NC_000019.10:g.17579491C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg426Gln	rs541154290	missense variant	-	NC_000019.10:g.17579492G>A	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg426Gly	rs754214674	missense variant	-	NC_000019.10:g.17579491C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly427Arg	rs560699305	missense variant	-	NC_000019.10:g.17579494G>A	1000Genomes
COLGALT1	Q8NBJ5	p.Gln429His	COSM438915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17579502G>C	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Gln429Lys	rs1382883917	missense variant	-	NC_000019.10:g.17579500C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser431Leu	rs778026007	missense variant	-	NC_000019.10:g.17579507C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val433Gly	rs747263236	missense variant	-	NC_000019.10:g.17579513T>G	ExAC
COLGALT1	Q8NBJ5	p.Asp436Asn	rs1294221612	missense variant	-	NC_000019.10:g.17579521G>A	gnomAD
COLGALT1	Q8NBJ5	p.Asp437Glu	rs1328924438	missense variant	-	NC_000019.10:g.17579526C>G	gnomAD
COLGALT1	Q8NBJ5	p.Arg439His	rs775094058	missense variant	-	NC_000019.10:g.17579531G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu441Lys	COSM4830058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17579536G>A	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Phe443Ile	rs372871690	missense variant	-	NC_000019.10:g.17579542T>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Lys445Glu	rs768662193	missense variant	-	NC_000019.10:g.17579548A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg446Lys	rs923408975	missense variant	-	NC_000019.10:g.17579552G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg446Gly	rs550488314	missense variant	-	NC_000019.10:g.17579551A>G	1000Genomes
COLGALT1	Q8NBJ5	p.Arg447Cys	rs947577811	missense variant	-	NC_000019.10:g.17579554C>T	TOPMed
COLGALT1	Q8NBJ5	p.Arg447His	rs774477102	missense variant	-	NC_000019.10:g.17579555G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu448Met	rs1039204810	missense variant	-	NC_000019.10:g.17579557C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asn450Lys	rs139965300	missense variant	-	NC_000019.10:g.17579565C>G	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu451Val	rs766999283	missense variant	-	NC_000019.10:g.17579566C>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Met452Val	rs750076793	missense variant	-	NC_000019.10:g.17579569A>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Met452Ile	rs766057963	missense variant	-	NC_000019.10:g.17579571G>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Met452Thr	rs145353960	missense variant	-	NC_000019.10:g.17579570T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg453Trp	rs572639404	missense variant	-	NC_000019.10:g.17579572C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg453Gly	rs572639404	missense variant	-	NC_000019.10:g.17579572C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg453Gln	rs1398248558	missense variant	-	NC_000019.10:g.17579573G>A	gnomAD
COLGALT1	Q8NBJ5	p.Glu456Lys	rs745798315	missense variant	-	NC_000019.10:g.17579581G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu456Gln	rs745798315	missense variant	-	NC_000019.10:g.17579581G>C	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg457Gln	rs139673867	missense variant	-	NC_000019.10:g.17579585G>A	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg457Trp	rs1467876864	missense variant	-	NC_000019.10:g.17579584C>T	TOPMed
COLGALT1	Q8NBJ5	p.Gly459Val	rs777777218	missense variant	-	NC_000019.10:g.17579591G>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly459Asp	rs777777218	missense variant	-	NC_000019.10:g.17579591G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp463His	rs552521030	missense variant	-	NC_000019.10:g.17579602G>C	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ile465Met	rs200972241	missense variant	-	NC_000019.10:g.17580699C>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val467Ala	rs1442454780	missense variant	-	NC_000019.10:g.17580704T>C	gnomAD
COLGALT1	Q8NBJ5	p.Arg469Gln	rs776263718	missense variant	-	NC_000019.10:g.17580710G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg469Trp	rs372205260	missense variant	-	NC_000019.10:g.17580709C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg471Pro	rs1297678804	missense variant	-	NC_000019.10:g.17580716G>C	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg471Gln	rs1297678804	missense variant	-	NC_000019.10:g.17580716G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg471Trp	rs1226022092	missense variant	-	NC_000019.10:g.17580715C>T	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Met472Ile	rs961695783	missense variant	-	NC_000019.10:g.17580720G>A	TOPMed
COLGALT1	Q8NBJ5	p.Gln473His	rs1243857109	missense variant	-	NC_000019.10:g.17580723G>C	gnomAD
COLGALT1	Q8NBJ5	p.Gln473His	rs1243857109	missense variant	-	NC_000019.10:g.17580723G>T	gnomAD
COLGALT1	Q8NBJ5	p.Gln473Pro	rs1307829046	missense variant	-	NC_000019.10:g.17580722A>C	gnomAD
COLGALT1	Q8NBJ5	p.Val474Leu	rs759245476	missense variant	-	NC_000019.10:g.17580724G>T	ExAC
COLGALT1	Q8NBJ5	p.Val474Met	rs759245476	missense variant	-	NC_000019.10:g.17580724G>A	ExAC
COLGALT1	Q8NBJ5	p.Glu475Asp	rs1263892481	missense variant	-	NC_000019.10:g.17580729G>T	gnomAD
COLGALT1	Q8NBJ5	p.His476Tyr	rs775767986	missense variant	-	NC_000019.10:g.17580730C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Pro477Leu	rs763410653	missense variant	-	NC_000019.10:g.17580734C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro477Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17580733C>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Glu478Lys	rs752144490	missense variant	-	NC_000019.10:g.17580736G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala480Thr	COSM3692494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17580742G>A	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Ala480Val	rs149223760	missense variant	-	NC_000019.10:g.17580743C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro482Ser	COSM4929547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17580748C>T	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Pro482Leu	rs377549471	missense variant	-	NC_000019.10:g.17580749C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro482Arg	rs377549471	missense variant	-	NC_000019.10:g.17580749C>G	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg483His	rs780452836	missense variant	-	NC_000019.10:g.17580752G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg483Cys	rs756336332	missense variant	-	NC_000019.10:g.17580751C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val484Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17580754G>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Arg485Thr	rs758262050	missense variant	-	NC_000019.10:g.17580758G>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val488Leu	rs201797838	missense variant	-	NC_000019.10:g.17580766G>T	1000Genomes
COLGALT1	Q8NBJ5	p.Ala490Thr	rs777542070	missense variant	-	NC_000019.10:g.17580772G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Asp491Asn	rs770416761	missense variant	-	NC_000019.10:g.17580775G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Tyr492Ter	rs200469379	stop gained	-	NC_000019.10:g.17580780T>A	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Tyr492Cys	rs1395237650	missense variant	-	NC_000019.10:g.17580779A>G	gnomAD
COLGALT1	Q8NBJ5	p.Tyr492Asp	rs954634522	missense variant	-	NC_000019.10:g.17580778T>G	TOPMed
COLGALT1	Q8NBJ5	p.Ser493Phe	rs1336694035	missense variant	-	NC_000019.10:g.17580782C>T	gnomAD
COLGALT1	Q8NBJ5	p.Tyr494Ter	rs745389689	stop gained	-	NC_000019.10:g.17580786C>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Trp495Ter	COSM1391493	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.17580788G>A	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Thr496Ser	rs1242159524	missense variant	-	NC_000019.10:g.17580791C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Tyr499His	rs1483171068	missense variant	-	NC_000019.10:g.17580799T>C	gnomAD
COLGALT1	Q8NBJ5	p.Tyr499Cys	rs1180636570	missense variant	-	NC_000019.10:g.17580800A>G	gnomAD
COLGALT1	Q8NBJ5	p.Val500Met	rs1416255380	missense variant	-	NC_000019.10:g.17580802G>A	gnomAD
COLGALT1	Q8NBJ5	p.Ala506Ser	rs368380442	missense variant	-	NC_000019.10:g.17580820G>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala506Thr	rs368380442	missense variant	-	NC_000019.10:g.17580820G>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg507Cys	rs183198845	missense variant	-	NC_000019.10:g.17580823C>T	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg507His	rs201380344	missense variant	-	NC_000019.10:g.17580824G>A	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg507Gly	rs183198845	missense variant	-	NC_000019.10:g.17580823C>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Lys508Arg	rs200075346	missense variant	-	NC_000019.10:g.17580827A>G	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu509Val	rs140576945	missense variant	-	NC_000019.10:g.17580829C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu510Pro	rs748819009	missense variant	-	NC_000019.10:g.17580833T>C	gnomAD
COLGALT1	Q8NBJ5	p.Ala511Pro	rs533405537	missense variant	-	NC_000019.10:g.17580835G>C	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Glu513Lys	rs757122399	missense variant	-	NC_000019.10:g.17580841G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro514Leu	rs1225686967	missense variant	-	NC_000019.10:g.17580845C>T	gnomAD
COLGALT1	Q8NBJ5	p.Lys517Arg	rs534491656	missense variant	-	NC_000019.10:g.17580854A>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Met518Ile	rs779565570	missense variant	-	NC_000019.10:g.17580858G>A	ExAC
COLGALT1	Q8NBJ5	p.Glu523Lys	rs1283590940	missense variant	-	NC_000019.10:g.17580871G>A	TOPMed
COLGALT1	Q8NBJ5	p.Phe524Ile	rs895305181	missense variant	-	NC_000019.10:g.17580874T>A	TOPMed
COLGALT1	Q8NBJ5	p.Pro526Leu	rs774707314	missense variant	-	NC_000019.10:g.17580881C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Pro526Ser	rs1250615889	missense variant	-	NC_000019.10:g.17580880C>T	gnomAD
COLGALT1	Q8NBJ5	p.Val527Ile	rs537124242	missense variant	-	NC_000019.10:g.17580883G>A	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Met528Ile	rs766548989	missense variant	-	NC_000019.10:g.17580888G>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Met528Ile	rs766548989	missense variant	-	NC_000019.10:g.17580888G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Met528Thr	rs137941571	missense variant	-	NC_000019.10:g.17580887T>C	ESP,ExAC,TOPMed
COLGALT1	Q8NBJ5	p.Phe529Val	rs1420092002	missense variant	-	NC_000019.10:g.17580889T>G	TOPMed
COLGALT1	Q8NBJ5	p.Asp530Asn	rs543254139	missense variant	-	NC_000019.10:g.17580892G>A	-
COLGALT1	Q8NBJ5	p.Lys531Arg	rs759748599	missense variant	-	NC_000019.10:g.17580896A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Lys531Glu	rs374956374	missense variant	-	NC_000019.10:g.17580895A>G	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.His532Arg	rs1444573398	missense variant	-	NC_000019.10:g.17580899A>G	gnomAD
COLGALT1	Q8NBJ5	p.His532Gln	rs1348147265	missense variant	-	NC_000019.10:g.17580900C>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.His532Tyr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17580898C>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Ser535Cys	rs754493620	missense variant	-	NC_000019.10:g.17581179C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser535Tyr	rs754493620	missense variant	-	NC_000019.10:g.17581179C>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser535Phe	rs754493620	missense variant	-	NC_000019.10:g.17581179C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu536Lys	rs1316826822	missense variant	-	NC_000019.10:g.17581181G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.His540Tyr	rs1328771100	missense variant	-	NC_000019.10:g.17581193C>T	gnomAD
COLGALT1	Q8NBJ5	p.Phe541Tyr	rs758823019	missense variant	-	NC_000019.10:g.17581197T>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Phe541Leu	rs142410173	missense variant	-	NC_000019.10:g.17581196T>C	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg544Cys	rs138362382	missense variant	-	NC_000019.10:g.17581205C>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg544His	rs149240687	missense variant	-	NC_000019.10:g.17581206G>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asn545Lys	rs777029758	missense variant	-	NC_000019.10:g.17581210C>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Leu546Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17581211C>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.His547Arg	rs745941882	missense variant	-	NC_000019.10:g.17581215A>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.His547Gln	rs1365315232	missense variant	-	NC_000019.10:g.17581216T>G	TOPMed
COLGALT1	Q8NBJ5	p.Glu552Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17581229G>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Pro553Leu	rs769807437	missense variant	-	NC_000019.10:g.17581233C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Pro553Ser	rs960376578	missense variant	-	NC_000019.10:g.17581232C>T	TOPMed
COLGALT1	Q8NBJ5	p.Leu555Phe	rs1190294942	missense variant	-	NC_000019.10:g.17581238C>T	gnomAD
COLGALT1	Q8NBJ5	p.Leu555Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17581238C>A	NCI-TCGA
COLGALT1	Q8NBJ5	p.Tyr557His	rs1418918339	missense variant	-	NC_000019.10:g.17581244T>C	gnomAD
COLGALT1	Q8NBJ5	p.His560Arg	rs201511712	missense variant	-	NC_000019.10:g.17581254A>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Tyr561His	rs1314602609	missense variant	-	NC_000019.10:g.17581256T>C	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gly563Glu	rs1353362356	missense variant	-	NC_000019.10:g.17581263G>A	TOPMed
COLGALT1	Q8NBJ5	p.Gly563Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.17581262G>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Asp565Asn	rs148480974	missense variant	-	NC_000019.10:g.17581268G>A	ESP,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Asp565Gly	rs753758390	missense variant	-	NC_000019.10:g.17581269A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val568Met	rs375037939	missense variant	-	NC_000019.10:g.17581277G>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp570Val	rs1355773052	missense variant	-	NC_000019.10:g.17581284A>T	gnomAD
COLGALT1	Q8NBJ5	p.Thr571Ser	rs368414076	missense variant	-	NC_000019.10:g.17581287C>G	ESP,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Thr571Ala	rs752270162	missense variant	-	NC_000019.10:g.17581286A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Glu572Ter	rs147181442	stop gained	-	NC_000019.10:g.17581289G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu572Lys	rs147181442	missense variant	-	NC_000019.10:g.17581289G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Thr573Ser	rs746433476	missense variant	-	NC_000019.10:g.17581292A>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val576Leu	rs187492977	missense variant	-	NC_000019.10:g.17581301G>T	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val576Leu	rs187492977	missense variant	-	NC_000019.10:g.17581301G>C	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Val576Ile	rs187492977	missense variant	-	NC_000019.10:g.17581301G>A	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Trp577Ter	rs1179950598	stop gained	-	NC_000019.10:g.17581305G>A	gnomAD
COLGALT1	Q8NBJ5	p.Asn579Ser	rs568261637	missense variant	-	NC_000019.10:g.17581311A>G	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Val582Gly	rs1436967771	missense variant	-	NC_000019.10:g.17581320T>G	gnomAD
COLGALT1	Q8NBJ5	p.Val582Ile	rs550646432	missense variant	-	NC_000019.10:g.17581319G>A	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Lys583Glu	rs765270297	missense variant	-	NC_000019.10:g.17581322A>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Thr584Ile	rs752215186	missense variant	-	NC_000019.10:g.17581326C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp585Asn	rs766288463	missense variant	-	NC_000019.10:g.17581328G>A	gnomAD
COLGALT1	Q8NBJ5	p.Trp586Ter	rs1333113131	stop gained	-	NC_000019.10:g.17581333G>A	TOPMed
COLGALT1	Q8NBJ5	p.Trp586Ser	rs1336985665	missense variant	-	NC_000019.10:g.17581332G>C	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg588His	rs539028568	missense variant	-	NC_000019.10:g.17581338G>A	1000Genomes,ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg588Gly	rs151059482	missense variant	-	NC_000019.10:g.17581337C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg588Cys	rs151059482	missense variant	-	NC_000019.10:g.17581337C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala589Thr	rs750800935	missense variant	-	NC_000019.10:g.17581340G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ala589Ser	rs750800935	missense variant	-	NC_000019.10:g.17581340G>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ser591Cys	rs1317392671	missense variant	-	NC_000019.10:g.17581347C>G	TOPMed
COLGALT1	Q8NBJ5	p.Gln592Ter	rs1280711567	stop gained	-	NC_000019.10:g.17581349C>T	gnomAD
COLGALT1	Q8NBJ5	p.Lys593Asn	rs756570607	missense variant	-	NC_000019.10:g.17581354G>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Met594Ile	rs1194266433	missense variant	-	NC_000019.10:g.17581357G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg595Trp	rs754846924	missense variant	-	NC_000019.10:g.17581358C>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg595Gly	rs754846924	missense variant	-	NC_000019.10:g.17581358C>G	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg595Gln	rs552916371	missense variant	-	NC_000019.10:g.17581359G>A	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Gln597Ter	COSM711233	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.17581364C>T	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Gln597His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17581366G>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Gln598Glu	rs1393355697	missense variant	-	NC_000019.10:g.17581367C>G	gnomAD
COLGALT1	Q8NBJ5	p.Ala599Thr	rs373290053	missense variant	-	NC_000019.10:g.17581370G>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ala599Ser	rs373290053	missense variant	-	NC_000019.10:g.17581370G>T	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu600Met	rs944782088	missense variant	-	NC_000019.10:g.17581373C>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg602Gly	rs535742636	missense variant	-	NC_000019.10:g.17581379C>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg602Cys	rs535742636	missense variant	-	NC_000019.10:g.17581379C>T	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg602His	rs769808117	missense variant	-	NC_000019.10:g.17581380G>A	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Arg602Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.17581380G>T	NCI-TCGA
COLGALT1	Q8NBJ5	p.Glu603Ter	rs1165604188	stop gained	-	NC_000019.10:g.17581382G>T	TOPMed
COLGALT1	Q8NBJ5	p.Ala604Gly	rs775620377	missense variant	-	NC_000019.10:g.17581386C>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Lys605Asn	COSM992828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.17581390G>T	NCI-TCGA Cosmic
COLGALT1	Q8NBJ5	p.Lys605Arg	rs1398261959	missense variant	-	NC_000019.10:g.17581389A>G	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Ser607Ala	rs762523562	missense variant	-	NC_000019.10:g.17581394T>G	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Ser607Leu	rs763767262	missense variant	-	NC_000019.10:g.17581395C>T	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Asp608Gly	rs1197722027	missense variant	-	NC_000019.10:g.17581398A>G	TOPMed
COLGALT1	Q8NBJ5	p.Val609Met	rs1304121207	missense variant	-	NC_000019.10:g.17581400G>A	TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Leu610Pro	rs767227467	missense variant	-	NC_000019.10:g.17581404T>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Gln611Pro	rs1329284949	missense variant	-	NC_000019.10:g.17581407A>C	gnomAD
COLGALT1	Q8NBJ5	p.Ser612Phe	rs1340240194	missense variant	-	NC_000019.10:g.17581410C>T	gnomAD
COLGALT1	Q8NBJ5	p.Pro613Thr	rs780505630	missense variant	-	NC_000019.10:g.17581412C>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp615Gly	rs1194775069	missense variant	-	NC_000019.10:g.17581419A>G	gnomAD
COLGALT1	Q8NBJ5	p.Ser616Gly	rs1248006105	missense variant	-	NC_000019.10:g.17581421A>G	gnomAD
COLGALT1	Q8NBJ5	p.Ser616Ile	rs111892870	missense variant	-	NC_000019.10:g.17581422G>T	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg619Trp	rs544405232	missense variant	-	NC_000019.10:g.17581430C>T	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg619Gln	rs139708290	missense variant	-	NC_000019.10:g.17581431G>A	ESP,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Arg619Gly	rs544405232	missense variant	-	NC_000019.10:g.17581430C>G	1000Genomes,ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp620Val	rs1441577866	missense variant	-	NC_000019.10:g.17581434A>T	TOPMed
COLGALT1	Q8NBJ5	p.Asp620Tyr	rs758509722	missense variant	-	NC_000019.10:g.17581433G>T	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Asp620Asn	rs758509722	missense variant	-	NC_000019.10:g.17581433G>A	ExAC,TOPMed,gnomAD
COLGALT1	Q8NBJ5	p.Glu621Lys	rs1399522621	missense variant	-	NC_000019.10:g.17581436G>A	TOPMed
COLGALT1	Q8NBJ5	p.Glu621Asp	rs778081101	missense variant	-	NC_000019.10:g.17581438A>C	ExAC,gnomAD
COLGALT1	Q8NBJ5	p.Leu622Pro	rs745638027	missense variant	-	NC_000019.10:g.17581440T>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg3His	rs922584346	missense variant	-	NC_000004.12:g.39185727G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg3Leu	rs922584346	missense variant	-	NC_000004.12:g.39185727G>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Phe5Ser	rs1237494778	missense variant	-	NC_000004.12:g.39185733T>C	TOPMed
WDR19	Q8NEZ3	p.Phe5Ser	RCV000681867	missense variant	-	NC_000004.12:g.39185733T>C	ClinVar
WDR19	Q8NEZ3	p.Leu7Pro	rs387906982	missense variant	Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5)	NC_000004.12:g.39185739T>C	UniProt,dbSNP
WDR19	Q8NEZ3	p.Leu7Pro	VAR_067312	missense variant	Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5)	NC_000004.12:g.39185739T>C	UniProt
WDR19	Q8NEZ3	p.Leu7Pro	rs387906982	missense variant	Asphyxiating thoracic dystrophy 5 (atd5)	NC_000004.12:g.39185739T>C	-
WDR19	Q8NEZ3	p.Leu7Pro	RCV000023683	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39185739T>C	ClinVar
WDR19	Q8NEZ3	p.Leu13Arg	rs754949027	missense variant	-	NC_000004.12:g.39185757T>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala15Thr	rs865806299	missense variant	-	NC_000004.12:g.39185762G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala15Val	rs747580252	missense variant	-	NC_000004.12:g.39185763C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Pro16Thr	rs758117076	missense variant	-	NC_000004.12:g.39185765C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Pro16Ser	rs758117076	missense variant	-	NC_000004.12:g.39185765C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile17Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39185768A>C	NCI-TCGA
WDR19	Q8NEZ3	p.Gln18Arg	rs770324810	missense variant	-	NC_000004.12:g.39185772A>G	gnomAD
WDR19	Q8NEZ3	p.Phe19Cys	rs1247231925	missense variant	-	NC_000004.12:g.39185775T>G	gnomAD
WDR19	Q8NEZ3	p.Phe19Cys	RCV000754961	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39185775T>G	ClinVar
WDR19	Q8NEZ3	p.Trp21Arg	rs747406077	missense variant	-	NC_000004.12:g.39185780T>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Trp21Cys	rs545407291	missense variant	-	NC_000004.12:g.39185782G>C	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Trp21Ter	COSM224667	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39185781G>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Trp21Ter	rs545407291	stop gained	-	NC_000004.12:g.39185782G>A	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr24Ala	rs1169495600	missense variant	-	NC_000004.12:g.39185789A>G	gnomAD
WDR19	Q8NEZ3	p.Thr24AsnPheSerTerUnkUnk	rs769095843	frameshift	-	NC_000004.12:g.39185783_39185784insA	NCI-TCGA,NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Asn27Ser	rs1305420192	missense variant	-	NC_000004.12:g.39185799A>G	gnomAD
WDR19	Q8NEZ3	p.Tyr28His	rs924561850	missense variant	-	NC_000004.12:g.39185801T>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala30Pro	rs776967770	missense variant	-	NC_000004.12:g.39185807G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala30Pro	rs776967770	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39185807G>C	UniProt,dbSNP
WDR19	Q8NEZ3	p.Ala30Pro	VAR_073673	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39185807G>C	UniProt
WDR19	Q8NEZ3	p.Ala30Ser	rs776967770	missense variant	-	NC_000004.12:g.39185807G>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Val31Ile	rs868429648	missense variant	-	NC_000004.12:g.39185810G>A	TOPMed
WDR19	Q8NEZ3	p.Thr32Ala	rs1363598133	missense variant	-	NC_000004.12:g.39185813A>G	gnomAD
WDR19	Q8NEZ3	p.Gly33Arg	rs1296450180	missense variant	-	NC_000004.12:g.39185816G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala34Thr	rs1318009175	missense variant	-	NC_000004.12:g.39186540G>A	TOPMed
WDR19	Q8NEZ3	p.Tyr36Asp	rs781578023	missense variant	-	NC_000004.12:g.39186546T>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp42Tyr	rs375560382	missense variant	-	NC_000004.12:g.39186564G>T	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg43Leu	rs770312522	missense variant	-	NC_000004.12:g.39186568G>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg43His	rs770312522	missense variant	-	NC_000004.12:g.39186568G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg43Cys	rs1376704482	missense variant	-	NC_000004.12:g.39186567C>T	TOPMed
WDR19	Q8NEZ3	p.Gly45Ser	rs1400132418	missense variant	-	NC_000004.12:g.39186573G>A	TOPMed
WDR19	Q8NEZ3	p.Arg48Gly	rs1339586600	missense variant	-	NC_000004.12:g.39186582A>G	gnomAD
WDR19	Q8NEZ3	p.Arg48Ile	rs372787374	missense variant	-	NC_000004.12:g.39186583G>T	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser49Arg	rs187932771	missense variant	-	NC_000004.12:g.39186587T>G	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser49Ile	rs1281207313	missense variant	-	NC_000004.12:g.39186586G>T	gnomAD
WDR19	Q8NEZ3	p.Glu50Ter	COSM3428488	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39186588G>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ile51Ser	rs1267632086	missense variant	-	NC_000004.12:g.39186592T>G	gnomAD
WDR19	Q8NEZ3	p.Asn52Lys	rs1327204183	missense variant	-	NC_000004.12:g.39186596C>G	gnomAD
WDR19	Q8NEZ3	p.Leu53Val	COSM1055193	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39186597T>G	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Gly55Arg	rs762188457	missense variant	-	NC_000004.12:g.39186603G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly55Asp	rs545033762	missense variant	-	NC_000004.12:g.39186604G>A	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys57Trp	rs1483597668	missense variant	-	NC_000004.12:g.39189662T>G	gnomAD
WDR19	Q8NEZ3	p.Met60Val	rs999289345	missense variant	-	NC_000004.12:g.39189669A>G	gnomAD
WDR19	Q8NEZ3	p.Asp61Gly	rs756407224	missense variant	-	NC_000004.12:g.39189673A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp61Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39189672G>A	NCI-TCGA
WDR19	Q8NEZ3	p.Asp65Gly	rs1452830390	missense variant	-	NC_000004.12:g.39189685A>G	gnomAD
WDR19	Q8NEZ3	p.Gly66Glu	rs780621466	missense variant	-	NC_000004.12:g.39189688G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp67Asn	rs769198434	missense variant	-	NC_000004.12:g.39189690G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp67Gly	rs778896318	missense variant	-	NC_000004.12:g.39189691A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val68Asp	rs786204852	missense variant	-	NC_000004.12:g.39189694T>A	-
WDR19	Q8NEZ3	p.Val68Asp	rs786204852	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39189694T>A	UniProt,dbSNP
WDR19	Q8NEZ3	p.Val68Asp	VAR_073674	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39189694T>A	UniProt
WDR19	Q8NEZ3	p.Val68Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39189694T>C	NCI-TCGA
WDR19	Q8NEZ3	p.Val68Asp	RCV000169776	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39189694T>A	ClinVar
WDR19	Q8NEZ3	p.Ala70Ser	rs563965291	missense variant	-	NC_000004.12:g.39189699G>T	1000Genomes
WDR19	Q8NEZ3	p.Lys75Gln	rs748216356	missense variant	-	NC_000004.12:g.39189714A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser77Ile	rs773526685	missense variant	-	NC_000004.12:g.39189721G>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys78Ser	rs200354828	missense variant	-	NC_000004.12:g.39189724G>C	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys78Ter	rs1232301082	stop gained	-	NC_000004.12:g.39189725C>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile79Val	rs1300106564	missense variant	-	NC_000004.12:g.39189726A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile79Met	rs1343231195	missense variant	-	NC_000004.12:g.39189728T>G	gnomAD
WDR19	Q8NEZ3	p.Ile79Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39189727T>G	NCI-TCGA
WDR19	Q8NEZ3	p.Tyr80Cys	rs1228214710	missense variant	-	NC_000004.12:g.39189730A>G	gnomAD
WDR19	Q8NEZ3	p.Leu81Phe	rs775353527	missense variant	-	NC_000004.12:g.39189732C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asn85Lys	rs762839914	missense variant	-	NC_000004.12:g.39189746C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn85Tyr	rs1355023242	missense variant	-	NC_000004.12:g.39189744A>T	TOPMed
WDR19	Q8NEZ3	p.Asn85Lys	rs762839914	missense variant	-	NC_000004.12:g.39189746C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Thr86Lys	rs764071755	missense variant	-	NC_000004.12:g.39189748C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn87Asp	rs1194051878	missense variant	-	NC_000004.12:g.39189750A>G	TOPMed
WDR19	Q8NEZ3	p.Thr89Pro	rs773875921	missense variant	-	NC_000004.12:g.39189756A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser90Asn	rs761275061	missense variant	-	NC_000004.12:g.39189760G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu92Ter	rs926405916	stop gained	-	NC_000004.12:g.39189766T>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp93His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39189768G>C	NCI-TCGA
WDR19	Q8NEZ3	p.Gly95Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39189775G>A	NCI-TCGA
WDR19	Q8NEZ3	p.Met96Ile	rs374891297	missense variant	-	NC_000004.12:g.39189779G>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met96Val	rs371675778	missense variant	-	NC_000004.12:g.39189777A>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg97Trp	rs755773822	missense variant	-	NC_000004.12:g.39189780A>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg97Lys	rs766718240	missense variant	-	NC_000004.12:g.39189781G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp98Val	rs767069160	missense variant	-	NC_000004.12:g.39194546A>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp98Asn	rs1317389016	missense variant	-	NC_000004.12:g.39194545G>A	TOPMed
WDR19	Q8NEZ3	p.Ser101Tyr	rs1381726098	missense variant	-	NC_000004.12:g.39194555C>A	gnomAD
WDR19	Q8NEZ3	p.Phe102Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39194559C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Leu103Phe	COSM4904932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39194560C>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Trp105Ser	rs925766312	missense variant	-	NC_000004.12:g.39194567G>C	TOPMed
WDR19	Q8NEZ3	p.Trp105Ter	rs925766312	stop gained	-	NC_000004.12:g.39194567G>A	TOPMed
WDR19	Q8NEZ3	p.Trp105LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39194563_39194564insT	NCI-TCGA
WDR19	Q8NEZ3	p.Lys107Asn	rs760283071	missense variant	-	NC_000004.12:g.39194574A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly109Glu	rs766029437	missense variant	-	NC_000004.12:g.39194579G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Phe111Leu	rs755327576	missense variant	-	NC_000004.12:g.39194586C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Val114Ala	rs1367121511	missense variant	-	NC_000004.12:g.39194594T>C	TOPMed
WDR19	Q8NEZ3	p.Gly115Glu	rs1456130645	missense variant	-	NC_000004.12:g.39194597G>A	gnomAD
WDR19	Q8NEZ3	p.Gly115Arg	rs376471437	missense variant	-	NC_000004.12:g.39194596G>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Thr116Asn	rs753196256	missense variant	-	NC_000004.12:g.39194600C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly119Ala	rs1257397069	missense variant	-	NC_000004.12:g.39194609G>C	gnomAD
WDR19	Q8NEZ3	p.Gly119Glu	rs1257397069	missense variant	-	NC_000004.12:g.39194609G>A	gnomAD
WDR19	Q8NEZ3	p.Asn125Tyr	rs568869081	missense variant	-	NC_000004.12:g.39194626A>T	1000Genomes,gnomAD
WDR19	Q8NEZ3	p.Asn125Ser	rs1199717543	missense variant	-	NC_000004.12:g.39194627A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn125Asp	rs568869081	missense variant	-	NC_000004.12:g.39194626A>G	1000Genomes,gnomAD
WDR19	Q8NEZ3	p.Asn125His	rs568869081	missense variant	-	NC_000004.12:g.39194626A>C	1000Genomes,gnomAD
WDR19	Q8NEZ3	p.Thr128Ile	rs1187572881	missense variant	-	NC_000004.12:g.39194636C>T	TOPMed
WDR19	Q8NEZ3	p.Arg130Ter	rs778039192	stop gained	-	NC_000004.12:g.39194641C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg130Gln	rs747065633	missense variant	-	NC_000004.12:g.39194642G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg130Gly	COSM3993658	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39194641C>G	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Arg130Gln	RCV000762096	missense variant	-	NC_000004.12:g.39194642G>A	ClinVar
WDR19	Q8NEZ3	p.Ile132Val	rs1412739019	missense variant	-	NC_000004.12:g.39194647A>G	gnomAD
WDR19	Q8NEZ3	p.Leu135Pro	rs1361187656	missense variant	-	NC_000004.12:g.39194657T>C	gnomAD
WDR19	Q8NEZ3	p.Leu135Phe	rs1157108574	missense variant	-	NC_000004.12:g.39194656C>T	gnomAD
WDR19	Q8NEZ3	p.Lys137Arg	rs763605734	missense variant	-	NC_000004.12:g.39199481A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His138Tyr	rs764648658	missense variant	-	NC_000004.12:g.39199483C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr139Ile	rs918439697	missense variant	-	NC_000004.12:g.39199487C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Thr139Asn	rs918439697	missense variant	-	NC_000004.12:g.39199487C>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Lys140Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39199491G>C	NCI-TCGA
WDR19	Q8NEZ3	p.Thr143Ser	rs1300821144	missense variant	-	NC_000004.12:g.39199498A>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Cys144Ser	rs1343959332	missense variant	-	NC_000004.12:g.39199502G>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Cys144Tyr	rs1343959332	missense variant	-	NC_000004.12:g.39199502G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Cys144Phe	rs1343959332	missense variant	-	NC_000004.12:g.39199502G>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Trp147Cys	rs1273811425	missense variant	-	NC_000004.12:g.39199512G>T	gnomAD
WDR19	Q8NEZ3	p.Asn148Ser	rs1305748043	missense variant	-	NC_000004.12:g.39199514A>G	gnomAD
WDR19	Q8NEZ3	p.Asn151Thr	COSM6100016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39199523A>C	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Leu153Phe	rs750719225	missense variant	-	NC_000004.12:g.39199528C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly156Ser	rs1193166240	missense variant	-	NC_000004.12:g.39199537G>A	gnomAD
WDR19	Q8NEZ3	p.Glu158Gly	rs1251436794	missense variant	-	NC_000004.12:g.39199544A>G	gnomAD
WDR19	Q8NEZ3	p.Asp159Asn	rs1451698951	missense variant	-	NC_000004.12:g.39199546G>A	gnomAD
WDR19	Q8NEZ3	p.Asp159Asn	RCV000515949	missense variant	Type IV short rib polydactyly syndrome (SRTD12)	NC_000004.12:g.39199546G>A	ClinVar
WDR19	Q8NEZ3	p.Lys160Arg	rs756321262	missense variant	-	NC_000004.12:g.39199550A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met161Ile	rs1419386520	missense variant	-	NC_000004.12:g.39199554G>T	gnomAD
WDR19	Q8NEZ3	p.Val164Ile	rs199514431	missense variant	-	NC_000004.12:g.39199561G>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln167Pro	rs1167555051	missense variant	-	NC_000004.12:g.39199571A>C	gnomAD
WDR19	Q8NEZ3	p.Gln167Arg	rs1167555051	missense variant	-	NC_000004.12:g.39199571A>G	gnomAD
WDR19	Q8NEZ3	p.Gly169Val	rs772017135	missense variant	-	NC_000004.12:g.39199577G>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr171Met	rs777646123	missense variant	-	NC_000004.12:g.39199583C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Thr171Arg	rs777646123	missense variant	-	NC_000004.12:g.39199583C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile172Val	rs1366988875	missense variant	-	NC_000004.12:g.39199585A>G	gnomAD
WDR19	Q8NEZ3	p.Arg173Thr	rs373766655	missense variant	-	NC_000004.12:g.39199589G>C	ESP,ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser182Arg	rs745323786	missense variant	-	NC_000004.12:g.39203665C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gln185Glu	rs769602871	missense variant	-	NC_000004.12:g.39203672C>G	ExAC,TOPMed
WDR19	Q8NEZ3	p.Lys190Glu	rs1193209642	missense variant	-	NC_000004.12:g.39203687A>G	TOPMed
WDR19	Q8NEZ3	p.Lys190Asn	COSM4843302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39203689G>C	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Asp192Val	rs775219254	missense variant	-	NC_000004.12:g.39203694A>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg194Gln	rs943893096	missense variant	-	NC_000004.12:g.39203700G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg194Leu	rs943893096	missense variant	-	NC_000004.12:g.39203700G>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg194Ter	rs1445634325	stop gained	-	NC_000004.12:g.39203699C>T	gnomAD
WDR19	Q8NEZ3	p.Ser196Cys	rs1238537245	missense variant	-	NC_000004.12:g.39203706C>G	gnomAD
WDR19	Q8NEZ3	p.Ala198Thr	rs575149055	missense variant	-	NC_000004.12:g.39203711G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu199Asp	COSM3993659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39203716A>C	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Met201Thr	rs749686201	missense variant	-	NC_000004.12:g.39203721T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Met201Val	rs1321065360	missense variant	-	NC_000004.12:g.39203720A>G	gnomAD
WDR19	Q8NEZ3	p.Val204Met	rs1254605580	missense variant	-	NC_000004.12:g.39205160G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val205Leu	rs758413433	missense variant	-	NC_000004.12:g.39205163G>C	gnomAD
WDR19	Q8NEZ3	p.Leu206Pro	rs1064796986	missense variant	-	NC_000004.12:g.39205167T>C	-
WDR19	Q8NEZ3	p.Leu206Pro	RCV000479045	missense variant	-	NC_000004.12:g.39205167T>C	ClinVar
WDR19	Q8NEZ3	p.Leu211Phe	rs1162036832	missense variant	-	NC_000004.12:g.39205183G>T	gnomAD
WDR19	Q8NEZ3	p.Phe212Leu	rs1478781970	missense variant	-	NC_000004.12:g.39205184T>C	gnomAD
WDR19	Q8NEZ3	p.Phe213Ile	COSM481241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39205187T>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Leu214Ter	rs751290509	stop gained	-	NC_000004.12:g.39205191T>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu214PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39205183_39205184insTT	NCI-TCGA
WDR19	Q8NEZ3	p.Leu214Ter	COSM2846526	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39205184T>-	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Leu214PhePheSerTerUnk	COSM1429603	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39205183_39205184insT	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Leu214Ter	RCV000115010	frameshift	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39205191dup	ClinVar
WDR19	Q8NEZ3	p.Leu214Ter	RCV000779440	nonsense	WDR19-Related Disorders	NC_000004.12:g.39205191T>A	ClinVar
WDR19	Q8NEZ3	p.Pro219Leu	rs1394186805	missense variant	-	NC_000004.12:g.39205206C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro219Ser	rs1172820142	missense variant	-	NC_000004.12:g.39205205C>T	gnomAD
WDR19	Q8NEZ3	p.Asn221His	rs1432634673	missense variant	-	NC_000004.12:g.39205211A>C	gnomAD
WDR19	Q8NEZ3	p.Pro222Ala	rs757241775	missense variant	-	NC_000004.12:g.39205214C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro222Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39205214C>T	NCI-TCGA
WDR19	Q8NEZ3	p.Ala223Thr	rs1371153516	missense variant	-	NC_000004.12:g.39205217G>A	gnomAD
WDR19	Q8NEZ3	p.Gln228Ter	rs587777350	stop gained	Nephronophthisis 13 (nphp13)	NC_000004.12:g.39205232C>T	-
WDR19	Q8NEZ3	p.Gln228Ter	RCV000115012	nonsense	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39205232C>T	ClinVar
WDR19	Q8NEZ3	p.Asp230Ala	rs202232525	missense variant	-	NC_000004.12:g.39205239A>C	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Phe231Leu	rs1328322728	missense variant	-	NC_000004.12:g.39205241T>C	gnomAD
WDR19	Q8NEZ3	p.Asn233Asp	rs745377050	missense variant	-	NC_000004.12:g.39205247A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr237Cys	rs755629699	missense variant	-	NC_000004.12:g.39205260A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn238Ser	rs1347531361	missense variant	-	NC_000004.12:g.39205263A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly243Val	rs776687469	missense variant	-	NC_000004.12:g.39205574G>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly243Ala	rs776687469	missense variant	-	NC_000004.12:g.39205574G>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly243Val	RCV000414473	missense variant	-	NC_000004.12:g.39205574G>T	ClinVar
WDR19	Q8NEZ3	p.Arg244Cys	rs759803480	missense variant	-	NC_000004.12:g.39205576C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg244His	rs527709762	missense variant	-	NC_000004.12:g.39205577G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile245Phe	COSM6100015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39205579A>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Met246Thr	rs751402776	missense variant	-	NC_000004.12:g.39205583T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Met246Val	rs1272123640	missense variant	-	NC_000004.12:g.39205582A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met246Ile	rs756937727	missense variant	-	NC_000004.12:g.39205584G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile247Val	rs1286460047	missense variant	-	NC_000004.12:g.39205585A>G	TOPMed
WDR19	Q8NEZ3	p.Gly248Ser	rs1064796985	missense variant	-	NC_000004.12:g.39205588G>A	-
WDR19	Q8NEZ3	p.Gly248Ser	RCV000484356	missense variant	-	NC_000004.12:g.39205588G>A	ClinVar
WDR19	Q8NEZ3	p.Phe249Ser	rs1553905326	missense variant	-	NC_000004.12:g.39205592T>C	-
WDR19	Q8NEZ3	p.Phe249Ser	RCV000515976	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39205592T>C	ClinVar
WDR19	Q8NEZ3	p.Ser250Pro	rs767505839	missense variant	-	NC_000004.12:g.39205594T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser250Ter	rs1446393665	stop gained	-	NC_000004.12:g.39205595C>G	TOPMed
WDR19	Q8NEZ3	p.Val255Met	rs1190857734	missense variant	-	NC_000004.12:g.39205609G>A	gnomAD
WDR19	Q8NEZ3	p.Thr259Ile	rs753373226	missense variant	-	NC_000004.12:g.39205622C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr259Ala	rs1402291883	missense variant	-	NC_000004.12:g.39205621A>G	TOPMed
WDR19	Q8NEZ3	p.His260Tyr	rs754678482	missense variant	-	NC_000004.12:g.39205624C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr261Ile	rs778387314	missense variant	-	NC_000004.12:g.39205628C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr261Ter	RCV000779441	frameshift	WDR19-Related Disorders	NC_000004.12:g.39205627dup	ClinVar
WDR19	Q8NEZ3	p.Thr261Ter	RCV000850616	frameshift	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39205627dup	ClinVar
WDR19	Q8NEZ3	p.Thr261Ter	RCV000515920	frameshift	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39205627dup	ClinVar
WDR19	Q8NEZ3	p.Gly262Glu	rs778096567	missense variant	-	NC_000004.12:g.39205631G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly262Arg	rs772265175	missense variant	-	NC_000004.12:g.39205630G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu263Asp	rs747581582	missense variant	-	NC_000004.12:g.39205635G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu267Asp	rs776714032	missense variant	-	NC_000004.12:g.39205647G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile268Leu	rs372022021	missense variant	-	NC_000004.12:g.39205648A>T	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln270Arg	rs1203227938	missense variant	-	NC_000004.12:g.39205655A>G	gnomAD
WDR19	Q8NEZ3	p.Ala271Val	rs981943939	missense variant	-	NC_000004.12:g.39205658C>T	TOPMed
WDR19	Q8NEZ3	p.Arg272Gly	rs199812132	missense variant	-	NC_000004.12:g.39205660C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg272His	rs552334665	missense variant	-	NC_000004.12:g.39205661G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg272Cys	rs199812132	missense variant	-	NC_000004.12:g.39205660C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg272Cys	rs199812132	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39205660C>T	UniProt,dbSNP
WDR19	Q8NEZ3	p.Arg272Cys	VAR_073676	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39205660C>T	UniProt
WDR19	Q8NEZ3	p.Asn273Asp	rs375644378	missense variant	-	NC_000004.12:g.39205663A>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn273Asp	RCV000515807	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39205663A>G	ClinVar
WDR19	Q8NEZ3	p.His274Arg	rs1417179940	missense variant	-	NC_000004.12:g.39205667A>G	gnomAD
WDR19	Q8NEZ3	p.Asp276Gly	rs760748596	missense variant	-	NC_000004.12:g.39205673A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr279Ala	rs1364657304	missense variant	-	NC_000004.12:g.39205681A>G	gnomAD
WDR19	Q8NEZ3	p.Ile281Thr	rs369657594	missense variant	-	NC_000004.12:g.39205688T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val283Ala	rs753426600	missense variant	-	NC_000004.12:g.39205694T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser284Leu	rs778639199	missense variant	-	NC_000004.12:g.39205697C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser284Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39205697C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Leu287Val	rs1307249843	missense variant	-	NC_000004.12:g.39205705C>G	gnomAD
WDR19	Q8NEZ3	p.Lys289Glu	rs778150036	missense variant	-	NC_000004.12:g.39205711A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Lys289Arg	rs1236463983	missense variant	-	NC_000004.12:g.39205712A>G	gnomAD
WDR19	Q8NEZ3	p.Thr292Ile	rs972038024	missense variant	-	NC_000004.12:g.39205721C>T	TOPMed
WDR19	Q8NEZ3	p.Cys293Tyr	rs1255397863	missense variant	-	NC_000004.12:g.39205724G>A	gnomAD
WDR19	Q8NEZ3	p.Cys293Arg	rs1209985738	missense variant	-	NC_000004.12:g.39205723T>C	gnomAD
WDR19	Q8NEZ3	p.Gly294Arg	rs377160857	missense variant	-	NC_000004.12:g.39205726G>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly294Arg	RCV000516052	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39205726G>A	ClinVar
WDR19	Q8NEZ3	p.Asp295Asn	rs1263216339	missense variant	-	NC_000004.12:g.39205729G>A	gnomAD
WDR19	Q8NEZ3	p.Asn296Asp	rs1179073990	missense variant	-	NC_000004.12:g.39205732A>G	gnomAD
WDR19	Q8NEZ3	p.Asn296Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39205733A>G	NCI-TCGA
WDR19	Q8NEZ3	p.Ile298Val	rs866720174	missense variant	-	NC_000004.12:g.39214602A>G	-
WDR19	Q8NEZ3	p.Ile298Val	RCV000332363	missense variant	-	NC_000004.12:g.39214602A>G	ClinVar
WDR19	Q8NEZ3	p.Lys299Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39214605A>G	NCI-TCGA
WDR19	Q8NEZ3	p.Gln301Ter	rs1193460368	stop gained	-	NC_000004.12:g.39214611C>T	gnomAD
WDR19	Q8NEZ3	p.Asp302Tyr	rs1393778682	missense variant	-	NC_000004.12:g.39214614G>T	gnomAD
WDR19	Q8NEZ3	p.Asp302Glu	rs763697118	missense variant	-	NC_000004.12:g.39214616C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val304Ile	rs75964850	missense variant	-	NC_000004.12:g.39214620G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val304Ile	RCV000259570	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39214620G>A	ClinVar
WDR19	Q8NEZ3	p.Val304Ile	RCV000333519	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39214620G>A	ClinVar
WDR19	Q8NEZ3	p.Met309Thr	rs781525188	missense variant	-	NC_000004.12:g.39214636T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr310His	rs746431590	missense variant	-	NC_000004.12:g.39214638T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr310Cys	rs199783864	missense variant	-	NC_000004.12:g.39214639A>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr310Asp	rs746431590	missense variant	-	NC_000004.12:g.39214638T>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr310Cys	RCV000274582	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39214639A>G	ClinVar
WDR19	Q8NEZ3	p.Tyr310Cys	RCV000387750	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39214639A>G	ClinVar
WDR19	Q8NEZ3	p.Tyr310Cys	RCV000693524	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39214639A>G	ClinVar
WDR19	Q8NEZ3	p.Val311Ile	rs1300934052	missense variant	-	NC_000004.12:g.39214641G>A	gnomAD
WDR19	Q8NEZ3	p.Ile312Val	rs780050672	missense variant	-	NC_000004.12:g.39214644A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile312Thr	rs886059396	missense variant	-	NC_000004.12:g.39214645T>C	-
WDR19	Q8NEZ3	p.Ile312Thr	RCV000329625	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39214645T>C	ClinVar
WDR19	Q8NEZ3	p.Ile312Thr	RCV000384136	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39214645T>C	ClinVar
WDR19	Q8NEZ3	p.Leu325Ser	rs1193255568	missense variant	-	NC_000004.12:g.39215853T>C	TOPMed
WDR19	Q8NEZ3	p.Leu325Ser	RCV000754957	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39215853T>C	ClinVar
WDR19	Q8NEZ3	p.Trp327Ter	rs1390489163	stop gained	-	NC_000004.12:g.39215860G>A	gnomAD
WDR19	Q8NEZ3	p.Thr328Ser	rs1440479412	missense variant	-	NC_000004.12:g.39215862C>G	TOPMed
WDR19	Q8NEZ3	p.Asp330Asn	rs762383451	missense variant	-	NC_000004.12:g.39215867G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly331Cys	RCV000722652	missense variant	-	NC_000004.12:g.39215870G>T	ClinVar
WDR19	Q8NEZ3	p.Ala335Pro	rs1005141668	missense variant	-	NC_000004.12:g.39215882G>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala335Ser	rs1005141668	missense variant	-	NC_000004.12:g.39215882G>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser337Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39215888T>C	NCI-TCGA
WDR19	Q8NEZ3	p.Thr338Ser	rs751273120	missense variant	-	NC_000004.12:g.39215892C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Thr338Asn	rs751273120	missense variant	-	NC_000004.12:g.39215892C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln339Arg	rs773773910	missense variant	-	NC_000004.12:g.39215895A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln339Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39215894C>G	NCI-TCGA
WDR19	Q8NEZ3	p.Gly341Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39215901G>T	NCI-TCGA
WDR19	Q8NEZ3	p.His344Asp	rs76599296	missense variant	-	NC_000004.12:g.39215909C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His344Arg	rs376527958	missense variant	-	NC_000004.12:g.39215910A>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His344Asp	RCV000756915	missense variant	-	NC_000004.12:g.39215909C>G	ClinVar
WDR19	Q8NEZ3	p.His344Leu	rs376527958	missense variant	-	NC_000004.12:g.39215910A>T	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val345Gly	rs387906983	missense variant	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39215913T>G	UniProt,dbSNP
WDR19	Q8NEZ3	p.Val345Gly	VAR_067313	missense variant	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39215913T>G	UniProt
WDR19	Q8NEZ3	p.Val345Gly	rs387906983	missense variant	Nephronophthisis 13 (nphp13)	NC_000004.12:g.39215913T>G	-
WDR19	Q8NEZ3	p.Val345Gly	RCV000023684	missense variant	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39215913T>G	ClinVar
WDR19	Q8NEZ3	p.Thr348Ile	rs1217008548	missense variant	-	NC_000004.12:g.39215922C>T	gnomAD
WDR19	Q8NEZ3	p.Ile352Val	rs187559874	missense variant	-	NC_000004.12:g.39215933A>G	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile352Thr	rs1485151462	missense variant	-	NC_000004.12:g.39215934T>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu353Arg	rs755047168	missense variant	-	NC_000004.12:g.39215937T>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu353Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39215936C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Asp355Gly	rs192495145	missense variant	-	NC_000004.12:g.39215943A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp355Val	rs192495145	missense variant	-	NC_000004.12:g.39215943A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp355Val	RCV000345040	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39215943A>T	ClinVar
WDR19	Q8NEZ3	p.Asp355Val	RCV000289997	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39215943A>T	ClinVar
WDR19	Q8NEZ3	p.Ala356Thr	rs565630355	missense variant	-	NC_000004.12:g.39215945G>A	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys357Ter	rs1409790963	stop gained	-	NC_000004.12:g.39215950C>A	gnomAD
WDR19	Q8NEZ3	p.Thr359Ala	rs1173477624	missense variant	-	NC_000004.12:g.39215954A>G	TOPMed
WDR19	Q8NEZ3	p.Ile361Val	rs1420677893	missense variant	-	NC_000004.12:g.39215960A>G	TOPMed
WDR19	Q8NEZ3	p.Ile361Ter	RCV000653248	frameshift	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39215959del	ClinVar
WDR19	Q8NEZ3	p.Ala362Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39215964C>T	NCI-TCGA
WDR19	Q8NEZ3	p.Tyr363His	rs987454936	missense variant	-	NC_000004.12:g.39215966T>C	TOPMed
WDR19	Q8NEZ3	p.Thr365Ala	rs745627337	missense variant	-	NC_000004.12:g.39215972A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu367Val	rs1064797308	missense variant	-	NC_000004.12:g.39215978C>G	-
WDR19	Q8NEZ3	p.Leu367Val	RCV000488022	missense variant	-	NC_000004.12:g.39215978C>G	ClinVar
WDR19	Q8NEZ3	p.Leu367ThrPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39215977_39215978insACCCTCCAATAGG	NCI-TCGA
WDR19	Q8NEZ3	p.Val372Ile	rs184326673	missense variant	-	NC_000004.12:g.39215993G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val372Leu	rs184326673	missense variant	-	NC_000004.12:g.39215993G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala373Gly	rs371744495	missense variant	-	NC_000004.12:g.39215997C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val376Phe	rs1053642158	missense variant	-	NC_000004.12:g.39216005G>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val376Ala	rs773816730	missense variant	-	NC_000004.12:g.39216006T>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val376Ile	rs1053642158	missense variant	-	NC_000004.12:g.39216005G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly378Arg	rs1213573896	missense variant	-	NC_000004.12:g.39216011G>A	gnomAD
WDR19	Q8NEZ3	p.Glu379Ala	rs1436422193	missense variant	-	NC_000004.12:g.39216097A>C	gnomAD
WDR19	Q8NEZ3	p.Glu379Lys	rs1386597327	missense variant	-	NC_000004.12:g.39216096G>A	gnomAD
WDR19	Q8NEZ3	p.Leu380Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39216100T>A	NCI-TCGA
WDR19	Q8NEZ3	p.Pro381Arg	rs755540447	missense variant	-	NC_000004.12:g.39216103C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile382Val	rs779175537	missense variant	-	NC_000004.12:g.39216105A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val388Ala	rs377067096	missense variant	-	NC_000004.12:g.39216124T>C	ESP,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro390Thr	rs752803760	missense variant	-	NC_000004.12:g.39216129C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn391Ser	rs758716599	missense variant	-	NC_000004.12:g.39216133A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Phe392Val	rs745663373	missense variant	-	NC_000004.12:g.39216135T>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly396Asp	rs1209378665	missense variant	-	NC_000004.12:g.39216148G>A	gnomAD
WDR19	Q8NEZ3	p.Gly396Cys	rs1347850554	missense variant	-	NC_000004.12:g.39216147G>T	gnomAD
WDR19	Q8NEZ3	p.Tyr398Cys	rs1437905163	missense variant	-	NC_000004.12:g.39216154A>G	gnomAD
WDR19	Q8NEZ3	p.His399Tyr	rs1180634321	missense variant	-	NC_000004.12:g.39216156C>T	gnomAD
WDR19	Q8NEZ3	p.Ala401Ser	rs1194084177	missense variant	-	NC_000004.12:g.39216162G>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn406Ser	rs1330372193	missense variant	-	NC_000004.12:g.39216178A>G	gnomAD
WDR19	Q8NEZ3	p.Arg407Ter	rs1432742641	stop gained	-	NC_000004.12:g.39216180C>T	gnomAD
WDR19	Q8NEZ3	p.Arg407Gln	rs373036887	missense variant	-	NC_000004.12:g.39216181G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala408Thr	rs1398656246	missense variant	-	NC_000004.12:g.39216183G>A	gnomAD
WDR19	Q8NEZ3	p.Phe410Leu	rs773869785	missense variant	-	NC_000004.12:g.39216189T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr411Cys	rs761268969	missense variant	-	NC_000004.12:g.39216193A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly414Glu	rs1375003683	missense variant	-	NC_000004.12:g.39216202G>A	gnomAD
WDR19	Q8NEZ3	p.Asn416Asp	rs771631714	missense variant	-	NC_000004.12:g.39216207A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Lys420Asn	COSM3409282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39217144A>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Leu421Phe	rs751873298	missense variant	-	NC_000004.12:g.39217147G>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu421Met	rs777701472	missense variant	-	NC_000004.12:g.39217145T>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu421IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39217138_39217139insA	NCI-TCGA
WDR19	Q8NEZ3	p.Asp423His	rs1202290974	missense variant	-	NC_000004.12:g.39217151G>C	TOPMed
WDR19	Q8NEZ3	p.Asp423Ala	rs1306716711	missense variant	-	NC_000004.12:g.39217152A>C	TOPMed
WDR19	Q8NEZ3	p.Met424Thr	rs757388299	missense variant	-	NC_000004.12:g.39217155T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr426Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39217161A>G	NCI-TCGA
WDR19	Q8NEZ3	p.Thr429Ile	rs779945910	missense variant	-	NC_000004.12:g.39217170C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala431Val	rs768607581	missense variant	-	NC_000004.12:g.39217176C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala431Thr	rs749030877	missense variant	-	NC_000004.12:g.39217175G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser432Gly	rs778750936	missense variant	-	NC_000004.12:g.39217178A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu435Phe	rs771674750	missense variant	-	NC_000004.12:g.39217187C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp438Glu	rs1472206592	missense variant	-	NC_000004.12:g.39217198C>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala442Val	rs200452234	missense variant	-	NC_000004.12:g.39217209C>T	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu443Ile	rs1368404511	missense variant	-	NC_000004.12:g.39217211C>A	TOPMed
WDR19	Q8NEZ3	p.Gly446Val	rs1391496744	missense variant	-	NC_000004.12:g.39217221G>T	TOPMed
WDR19	Q8NEZ3	p.Val448Ile	rs760418892	missense variant	-	NC_000004.12:g.39217226G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile453LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39217984T>-	NCI-TCGA
WDR19	Q8NEZ3	p.Ser455Arg	rs571091734	missense variant	-	NC_000004.12:g.39217991C>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu456Lys	rs539621646	missense variant	-	NC_000004.12:g.39217992G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala460Val	COSM1429606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39218005C>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Gln461Leu	rs1334930868	missense variant	-	NC_000004.12:g.39218008A>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln461Pro	rs1334930868	missense variant	-	NC_000004.12:g.39218008A>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu463Gly	rs777393995	missense variant	-	NC_000004.12:g.39218014A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg464His	rs369201153	missense variant	-	NC_000004.12:g.39218017G>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg464Cys	rs201148758	missense variant	-	NC_000004.12:g.39218016C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg464Cys	RCV000325851	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39218016C>T	ClinVar
WDR19	Q8NEZ3	p.Arg464Cys	RCV000380471	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39218016C>T	ClinVar
WDR19	Q8NEZ3	p.Glu465Ter	rs190692187	stop gained	-	NC_000004.12:g.39218019G>T	1000Genomes
WDR19	Q8NEZ3	p.Thr466Ile	rs1210120690	missense variant	-	NC_000004.12:g.39218023C>T	gnomAD
WDR19	Q8NEZ3	p.Arg467Gln	rs199991653	missense variant	-	NC_000004.12:g.39218026G>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg467Trp	rs373269235	missense variant	-	NC_000004.12:g.39218025C>T	ESP,TOPMed
WDR19	Q8NEZ3	p.Arg467Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39218026G>T	NCI-TCGA
WDR19	Q8NEZ3	p.Arg467Pro	COSM587225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39218026G>C	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Phe469Ser	rs1054078971	missense variant	-	NC_000004.12:g.39218032T>C	TOPMed
WDR19	Q8NEZ3	p.Ala471Thr	COSM6167113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39218037G>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ala471Val	rs745502826	missense variant	-	NC_000004.12:g.39218038C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Val472Glu	rs770348855	missense variant	-	NC_000004.12:g.39218041T>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp474Tyr	rs1177214309	missense variant	-	NC_000004.12:g.39218046G>T	gnomAD
WDR19	Q8NEZ3	p.Asp474Gly	rs1397294886	missense variant	-	NC_000004.12:g.39218047A>G	gnomAD
WDR19	Q8NEZ3	p.Lys475Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39218047_39218048insT	NCI-TCGA
WDR19	Q8NEZ3	p.Cys476Arg	rs1486213364	missense variant	-	NC_000004.12:g.39218052T>C	TOPMed
WDR19	Q8NEZ3	p.Arg477Leu	rs371117988	missense variant	-	NC_000004.12:g.39218056G>T	ESP,ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg477His	rs371117988	missense variant	-	NC_000004.12:g.39218056G>A	ESP,ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg477Cys	rs771411868	missense variant	-	NC_000004.12:g.39218055C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg477His	RCV000082250	missense variant	-	NC_000004.12:g.39218056G>A	ClinVar
WDR19	Q8NEZ3	p.Ile478Met	rs886039814	missense variant	-	NC_000004.12:g.39218060C>G	-
WDR19	Q8NEZ3	p.Ile478Met	RCV000256446	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39218060C>G	ClinVar
WDR19	Q8NEZ3	p.Cys480Arg	rs1356874486	missense variant	-	NC_000004.12:g.39218064T>C	gnomAD
WDR19	Q8NEZ3	p.Ile489Val	rs1208451528	missense variant	-	NC_000004.12:g.39218091A>G	TOPMed
WDR19	Q8NEZ3	p.Tyr490Cys	rs1395393322	missense variant	-	NC_000004.12:g.39218095A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr490His	rs761729644	missense variant	-	NC_000004.12:g.39218094T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp493His	rs587777349	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39218103G>C	UniProt,dbSNP
WDR19	Q8NEZ3	p.Asp493His	VAR_073677	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39218103G>C	UniProt
WDR19	Q8NEZ3	p.Asp493His	rs587777349	missense variant	-	NC_000004.12:g.39218103G>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp493Gly	rs750706588	missense variant	-	NC_000004.12:g.39218104A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp493His	RCV000115011	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39218103G>C	ClinVar
WDR19	Q8NEZ3	p.Gly495Arg	rs1215108056	missense variant	-	NC_000004.12:g.39224887G>C	gnomAD
WDR19	Q8NEZ3	p.Gly495Arg	RCV000516069	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39224887G>C	ClinVar
WDR19	Q8NEZ3	p.Val496Ala	rs772209665	missense variant	-	NC_000004.12:g.39224891T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Val496Ile	rs1482640692	missense variant	-	NC_000004.12:g.39224890G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val497Ile	rs773247843	missense variant	-	NC_000004.12:g.39224893G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr501Cys	rs760939643	missense variant	-	NC_000004.12:g.39224906A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile502Val	rs766541781	missense variant	-	NC_000004.12:g.39224908A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile502Leu	rs766541781	missense variant	-	NC_000004.12:g.39224908A>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Trp505Ter	rs1245370069	stop gained	-	NC_000004.12:g.39224919G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln506Ter	rs1259448445	stop gained	-	NC_000004.12:g.39224920C>T	gnomAD
WDR19	Q8NEZ3	p.Phe507Leu	rs752569879	missense variant	-	NC_000004.12:g.39224925C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val508Ile	rs764106666	missense variant	-	NC_000004.12:g.39224926G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr511His	rs1422217471	missense variant	-	NC_000004.12:g.39224935T>C	gnomAD
WDR19	Q8NEZ3	p.Arg512Ter	rs1476588496	stop gained	-	NC_000004.12:g.39224938C>T	gnomAD
WDR19	Q8NEZ3	p.Arg512Gln	rs537283735	missense variant	-	NC_000004.12:g.39224939G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro514Thr	rs1418175737	missense variant	-	NC_000004.12:g.39224944C>A	gnomAD
WDR19	Q8NEZ3	p.Pro514Arg	rs757229123	missense variant	-	NC_000004.12:g.39224945C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser516Gly	rs1163866393	missense variant	-	NC_000004.12:g.39224950A>G	gnomAD
WDR19	Q8NEZ3	p.Lys519Asn	rs1431300987	missense variant	-	NC_000004.12:g.39224961G>T	gnomAD
WDR19	Q8NEZ3	p.Phe521Leu	rs1288227814	missense variant	-	NC_000004.12:g.39224965T>C	gnomAD
WDR19	Q8NEZ3	p.Pro522Ser	rs1339914176	missense variant	-	NC_000004.12:g.39224968C>T	gnomAD
WDR19	Q8NEZ3	p.Asp523Tyr	rs557405566	missense variant	-	NC_000004.12:g.39224971G>T	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp523Asn	rs557405566	missense variant	-	NC_000004.12:g.39224971G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp523His	rs557405566	missense variant	-	NC_000004.12:g.39224971G>C	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly526Arg	rs1335665760	missense variant	-	NC_000004.12:g.39224980G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly526Trp	rs1335665760	missense variant	-	NC_000004.12:g.39224980G>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg528Ile	rs1288089064	missense variant	-	NC_000004.12:g.39224987G>T	gnomAD
WDR19	Q8NEZ3	p.Phe531Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39224996T>C	NCI-TCGA
WDR19	Q8NEZ3	p.Ile532Thr	rs749672769	missense variant	-	NC_000004.12:g.39224999T>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile532Ser	rs749672769	missense variant	-	NC_000004.12:g.39224999T>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile532Thr	RCV000653252	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39224999T>C	ClinVar
WDR19	Q8NEZ3	p.Ile532Phe	rs1381343000	missense variant	-	NC_000004.12:g.39224998A>T	TOPMed
WDR19	Q8NEZ3	p.Asp533Gly	rs1232457641	missense variant	-	NC_000004.12:g.39225002A>G	TOPMed
WDR19	Q8NEZ3	p.Lys535Asn	rs748697892	missense variant	-	NC_000004.12:g.39225009A>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser536Thr	rs115348383	missense variant	-	NC_000004.12:g.39225011G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser536Thr	RCV000245151	missense variant	-	NC_000004.12:g.39225011G>C	ClinVar
WDR19	Q8NEZ3	p.Ser536Thr	RCV000756910	missense variant	-	NC_000004.12:g.39225011G>C	ClinVar
WDR19	Q8NEZ3	p.Asp537Gly	rs773305077	missense variant	-	NC_000004.12:g.39225014A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp537Glu	rs760706873	missense variant	-	NC_000004.12:g.39225015T>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr541Ter	RCV000754959	nonsense	Cranioectodermal dysplasia	NC_000004.12:g.39225027C>G	ClinVar
WDR19	Q8NEZ3	p.Tyr541Ter	rs771148519	stop gained	-	NC_000004.12:g.39225027C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Cys542Gly	rs962400149	missense variant	-	NC_000004.12:g.39225028T>G	TOPMed
WDR19	Q8NEZ3	p.Val544Ile	rs1402688771	missense variant	-	NC_000004.12:g.39228210G>A	TOPMed
WDR19	Q8NEZ3	p.Ala547Thr	rs754631759	missense variant	-	NC_000004.12:g.39228219G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr549Cys	rs370649765	missense variant	-	NC_000004.12:g.39228226A>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu550Asp	rs1159442787	missense variant	-	NC_000004.12:g.39228230G>T	TOPMed
WDR19	Q8NEZ3	p.Ile551Val	rs1473310793	missense variant	-	NC_000004.12:g.39228231A>G	TOPMed
WDR19	Q8NEZ3	p.Ile551Ser	rs748466800	missense variant	-	NC_000004.12:g.39228232T>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr557Ala	rs772600757	missense variant	-	NC_000004.12:g.39228249A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile558Val	rs778188588	missense variant	-	NC_000004.12:g.39228252A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Lys559Asn	rs1186805310	missense variant	-	NC_000004.12:g.39228257A>T	gnomAD
WDR19	Q8NEZ3	p.Lys559Thr	rs1402989175	missense variant	-	NC_000004.12:g.39228256A>C	gnomAD
WDR19	Q8NEZ3	p.Gly560Asp	rs375777724	missense variant	-	NC_000004.12:g.39228259G>A	ESP,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly560Val	rs375777724	missense variant	-	NC_000004.12:g.39228259G>T	ESP,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro567Gln	rs747105194	missense variant	-	NC_000004.12:g.39228280C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp569Glu	COSM300351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39228287T>G	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Gly571Val	rs1356548421	missense variant	-	NC_000004.12:g.39228292G>T	gnomAD
WDR19	Q8NEZ3	p.Val572Ala	rs368249705	missense variant	-	NC_000004.12:g.39228295T>C	ESP,ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala575Thr	rs991130139	missense variant	-	NC_000004.12:g.39228303G>A	TOPMed
WDR19	Q8NEZ3	p.Ala575Val	rs776740157	missense variant	-	NC_000004.12:g.39228304C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp577Gly	rs1237070636	missense variant	-	NC_000004.12:g.39228310A>G	gnomAD
WDR19	Q8NEZ3	p.Asp578Gly	rs1343665575	missense variant	-	NC_000004.12:g.39228313A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp578Asn	rs1304881787	missense variant	-	NC_000004.12:g.39228312G>A	gnomAD
WDR19	Q8NEZ3	p.Asp578Glu	rs571678102	missense variant	-	NC_000004.12:g.39228314T>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val581Met	rs1198266909	missense variant	-	NC_000004.12:g.39228321G>A	gnomAD
WDR19	Q8NEZ3	p.Tyr582Ter	rs539697450	stop gained	-	NC_000004.12:g.39228326C>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr582Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39228325A>G	NCI-TCGA
WDR19	Q8NEZ3	p.Thr583Ile	rs1286484497	missense variant	-	NC_000004.12:g.39228328C>T	TOPMed
WDR19	Q8NEZ3	p.Tyr584His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39228330T>C	NCI-TCGA
WDR19	Q8NEZ3	p.Phe586Ile	COSM5067277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39228336T>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Lys588Asn	rs1194187008	missense variant	-	NC_000004.12:g.39228344G>T	gnomAD
WDR19	Q8NEZ3	p.Lys588Glu	rs1469699848	missense variant	-	NC_000004.12:g.39228342A>G	gnomAD
WDR19	Q8NEZ3	p.Asp589Gly	rs1340934924	missense variant	-	NC_000004.12:g.39228346A>G	TOPMed
WDR19	Q8NEZ3	p.Ile591Val	rs1477727266	missense variant	-	NC_000004.12:g.39228351A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln592Glu	rs1170845760	missense variant	-	NC_000004.12:g.39228354C>G	gnomAD
WDR19	Q8NEZ3	p.Gln592Leu	rs190192706	missense variant	-	NC_000004.12:g.39228355A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln592Arg	rs190192706	missense variant	-	NC_000004.12:g.39228355A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly593Val	rs369439776	missense variant	-	NC_000004.12:g.39228486G>T	ESP,TOPMed
WDR19	Q8NEZ3	p.Ala599Ser	rs1362656117	missense variant	-	NC_000004.12:g.39228503G>T	TOPMed
WDR19	Q8NEZ3	p.Ala599Val	rs193273000	missense variant	-	NC_000004.12:g.39228504C>T	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser601Asn	rs752404680	missense variant	-	NC_000004.12:g.39228510G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr602Pro	rs1336431368	missense variant	-	NC_000004.12:g.39228512A>C	gnomAD
WDR19	Q8NEZ3	p.Val604Leu	rs1245108212	missense variant	-	NC_000004.12:g.39228518G>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val604Ala	rs758042086	missense variant	-	NC_000004.12:g.39228519T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Val604Ter	RCV000722867	frameshift	-	NC_000004.12:g.39228517del	ClinVar
WDR19	Q8NEZ3	p.Pro605His	rs1354009138	missense variant	-	NC_000004.12:g.39228522C>A	gnomAD
WDR19	Q8NEZ3	p.Pro605Ser	rs764490726	missense variant	-	NC_000004.12:g.39228521C>T	ExAC
WDR19	Q8NEZ3	p.Ala607Thr	rs1165530025	missense variant	-	NC_000004.12:g.39228527G>A	TOPMed
WDR19	Q8NEZ3	p.His608Tyr	rs757734219	missense variant	-	NC_000004.12:g.39228530C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Pro610His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39228537C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Leu612Pro	rs1456800995	missense variant	-	NC_000004.12:g.39228543T>C	TOPMed
WDR19	Q8NEZ3	p.Tyr614Cys	rs780273002	missense variant	-	NC_000004.12:g.39228549A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu617Gly	rs1199671668	missense variant	-	NC_000004.12:g.39228558A>G	gnomAD
WDR19	Q8NEZ3	p.Glu617Gln	rs1032864793	missense variant	-	NC_000004.12:g.39228557G>C	TOPMed
WDR19	Q8NEZ3	p.Leu618Met	rs749558342	missense variant	-	NC_000004.12:g.39228560C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr619Asn	rs777737446	missense variant	-	NC_000004.12:g.39228564C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr619Ile	rs777737446	missense variant	-	NC_000004.12:g.39228564C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr619Pro	rs543254396	missense variant	-	NC_000004.12:g.39228563A>C	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys620Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39228567G>A	NCI-TCGA
WDR19	Q8NEZ3	p.Gln623GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39228572_39228573AC>-	NCI-TCGA
WDR19	Q8NEZ3	p.Gln623His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39228577G>C	NCI-TCGA
WDR19	Q8NEZ3	p.Gln623Glu	rs1361792881	missense variant	-	NC_000004.12:g.39228575C>G	gnomAD
WDR19	Q8NEZ3	p.Lys626Arg	rs776575862	missense variant	-	NC_000004.12:g.39228585A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asn629Thr	rs759379989	missense variant	-	NC_000004.12:g.39228594A>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn629Ile	rs759379989	missense variant	-	NC_000004.12:g.39228594A>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile630Val	rs769361577	missense variant	-	NC_000004.12:g.39228596A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu632Arg	rs774951735	missense variant	-	NC_000004.12:g.39228603T>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His635Arg	rs763696990	missense variant	-	NC_000004.12:g.39228612A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser639Gly	rs150649460	missense variant	-	NC_000004.12:g.39228623A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser639Arg	rs150649460	missense variant	-	NC_000004.12:g.39228623A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser639Gly	RCV000653249	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39228623A>G	ClinVar
WDR19	Q8NEZ3	p.Asp643Gly	rs1214396519	missense variant	-	NC_000004.12:g.39228636A>G	gnomAD
WDR19	Q8NEZ3	p.Asp643His	rs767757561	missense variant	-	NC_000004.12:g.39228635G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp643Asn	rs767757561	missense variant	-	NC_000004.12:g.39228635G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp643Tyr	rs767757561	missense variant	-	NC_000004.12:g.39228635G>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly645Arg	rs756543710	missense variant	-	NC_000004.12:g.39228641G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly645Glu	rs1201245697	missense variant	-	NC_000004.12:g.39228642G>A	gnomAD
WDR19	Q8NEZ3	p.Asp647Asn	rs1248776234	missense variant	-	NC_000004.12:g.39228647G>A	gnomAD
WDR19	Q8NEZ3	p.Asp647Gly	COSM1055200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39228648A>G	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Glu648Lys	rs377367588	missense variant	-	NC_000004.12:g.39228650G>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met652Ile	rs746795141	missense variant	-	NC_000004.12:g.39228664G>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met652Val	rs779213986	missense variant	-	NC_000004.12:g.39228662A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala654Thr	rs1024499799	missense variant	-	NC_000004.12:g.39228668G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala654Val	COSM4124570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39228669C>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Met658Ile	rs1365574205	missense variant	-	NC_000004.12:g.39228682G>A	TOPMed
WDR19	Q8NEZ3	p.Phe662Ser	rs1422106867	missense variant	-	NC_000004.12:g.39231799T>C	TOPMed
WDR19	Q8NEZ3	p.Ala665Thr	rs753976268	missense variant	-	NC_000004.12:g.39231807G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala665Val	rs755055037	missense variant	-	NC_000004.12:g.39231808C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala665Pro	rs753976268	missense variant	-	NC_000004.12:g.39231807G>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu667Lys	rs1386170837	missense variant	-	NC_000004.12:g.39231813G>A	gnomAD
WDR19	Q8NEZ3	p.Glu667Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39231815A>C	NCI-TCGA
WDR19	Q8NEZ3	p.Met668Ile	rs765219782	missense variant	-	NC_000004.12:g.39231818G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys669Tyr	rs753029687	missense variant	-	NC_000004.12:g.39231820G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg670Gly	rs1432446286	missense variant	-	NC_000004.12:g.39231822A>G	gnomAD
WDR19	Q8NEZ3	p.Asn673Ser	rs781091537	missense variant	-	NC_000004.12:g.39231832A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp674Asn	rs1489151373	missense variant	-	NC_000004.12:g.39231834G>A	TOPMed
WDR19	Q8NEZ3	p.Glu675Gly	rs756047632	missense variant	-	NC_000004.12:g.39231838A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu680Lys	rs1191124227	missense variant	-	NC_000004.12:g.39231852G>A	gnomAD
WDR19	Q8NEZ3	p.Glu680Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39231852G>T	NCI-TCGA
WDR19	Q8NEZ3	p.Arg683Thr	rs1264582286	missense variant	-	NC_000004.12:g.39231862G>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Cys685Ter	rs368336762	stop gained	-	NC_000004.12:g.39231869T>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu686Pro	rs768218455	missense variant	-	NC_000004.12:g.39231871T>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His687Arg	rs1463759165	missense variant	-	NC_000004.12:g.39231874A>G	gnomAD
WDR19	Q8NEZ3	p.His688Tyr	rs1166777787	missense variant	-	NC_000004.12:g.39231876C>T	gnomAD
WDR19	Q8NEZ3	p.Met689Thr	rs780879248	missense variant	-	NC_000004.12:g.39231880T>C	ExAC,TOPMed
WDR19	Q8NEZ3	p.Met689Val	rs1350259300	missense variant	-	NC_000004.12:g.39231879A>G	gnomAD
WDR19	Q8NEZ3	p.Ile695Ser	rs1312676134	missense variant	-	NC_000004.12:g.39231898T>G	TOPMed
WDR19	Q8NEZ3	p.Arg696His	rs747881116	missense variant	-	NC_000004.12:g.39231901G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg696Cys	rs916752399	missense variant	-	NC_000004.12:g.39231900C>T	gnomAD
WDR19	Q8NEZ3	p.Val697Phe	rs771578426	missense variant	-	NC_000004.12:g.39231903G>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr698Ser	rs370948119	missense variant	-	NC_000004.12:g.39231907A>C	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg699Trp	rs886042728	missense variant	-	NC_000004.12:g.39231909C>T	TOPMed
WDR19	Q8NEZ3	p.Arg699Gln	RCV000525665	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39231910G>A	ClinVar
WDR19	Q8NEZ3	p.Arg699Trp	RCV000271694	missense variant	-	NC_000004.12:g.39231909C>T	ClinVar
WDR19	Q8NEZ3	p.Arg699Gln	rs138529452	missense variant	-	NC_000004.12:g.39231910G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg700Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39231913G>T	NCI-TCGA
WDR19	Q8NEZ3	p.Ile701Thr	rs1340059722	missense variant	-	NC_000004.12:g.39231916T>C	gnomAD
WDR19	Q8NEZ3	p.Gly702Ala	rs767010534	missense variant	-	NC_000004.12:g.39231919G>C	ExAC
WDR19	Q8NEZ3	p.Asn703Ser	rs920681156	missense variant	-	NC_000004.12:g.39231922A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser709Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39231940C>T	NCI-TCGA
WDR19	Q8NEZ3	p.Leu710Ser	rs387906980	missense variant	Cranioectodermal dysplasia 4 (ced4)	NC_000004.12:g.39231943T>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu710Ser	rs387906980	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39231943T>C	UniProt,dbSNP
WDR19	Q8NEZ3	p.Leu710Ser	VAR_067314	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39231943T>C	UniProt
WDR19	Q8NEZ3	p.Leu710Ser	RCV000023681	missense variant	Cranioectodermal dysplasia 4 (CED4)	NC_000004.12:g.39231943T>C	ClinVar
WDR19	Q8NEZ3	p.Leu710Ser	RCV000169775	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39231943T>C	ClinVar
WDR19	Q8NEZ3	p.Gly715Glu	rs778504493	missense variant	-	NC_000004.12:g.39232163G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile716Val	rs1379087804	missense variant	-	NC_000004.12:g.39232165A>G	TOPMed
WDR19	Q8NEZ3	p.Glu717Gln	rs1160646114	missense variant	-	NC_000004.12:g.39232168G>C	gnomAD
WDR19	Q8NEZ3	p.Asp718Asn	rs1052381805	missense variant	-	NC_000004.12:g.39232171G>A	TOPMed
WDR19	Q8NEZ3	p.Tyr719His	rs1250749947	missense variant	-	NC_000004.12:g.39232174T>C	TOPMed
WDR19	Q8NEZ3	p.Asn720Ser	rs772687020	missense variant	-	NC_000004.12:g.39232178A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu721Ile	COSM1055201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39232180C>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ala723Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39232186G>A	NCI-TCGA
WDR19	Q8NEZ3	p.Leu726Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39232196T>C	NCI-TCGA
WDR19	Q8NEZ3	p.Met728Val	rs1218489974	missense variant	-	NC_000004.12:g.39232201A>G	TOPMed
WDR19	Q8NEZ3	p.Phe729Leu	rs1381969257	missense variant	-	NC_000004.12:g.39232204T>C	gnomAD
WDR19	Q8NEZ3	p.Thr730Ile	rs1157984983	missense variant	-	NC_000004.12:g.39232208C>T	gnomAD
WDR19	Q8NEZ3	p.Asn731Ser	rs777105752	missense variant	-	NC_000004.12:g.39232211A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asn731Asp	rs771489672	missense variant	-	NC_000004.12:g.39232210A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp732Asn	rs765614115	missense variant	-	NC_000004.12:g.39232213G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp732Glu	rs1231522177	missense variant	-	NC_000004.12:g.39232215T>G	TOPMed
WDR19	Q8NEZ3	p.Asn734Ser	rs892296811	missense variant	-	NC_000004.12:g.39232220A>G	TOPMed
WDR19	Q8NEZ3	p.Leu735Pro	rs1379598044	missense variant	-	NC_000004.12:g.39232223T>C	gnomAD
WDR19	Q8NEZ3	p.Ala736Thr	rs775642065	missense variant	-	NC_000004.12:g.39232225G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gln737Glu	rs1350826986	missense variant	-	NC_000004.12:g.39232228C>G	gnomAD
WDR19	Q8NEZ3	p.Asp738Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39232233C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Asp738Val	rs1307951215	missense variant	-	NC_000004.12:g.39232232A>T	TOPMed
WDR19	Q8NEZ3	p.Tyr740His	rs886059399	missense variant	-	NC_000004.12:g.39232237T>C	-
WDR19	Q8NEZ3	p.Tyr740His	RCV000402053	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39232237T>C	ClinVar
WDR19	Q8NEZ3	p.Tyr740His	RCV000311239	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39232237T>C	ClinVar
WDR19	Q8NEZ3	p.Leu741Phe	rs764220156	missense variant	-	NC_000004.12:g.39232240C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala742Val	rs751845942	missense variant	-	NC_000004.12:g.39232244C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser744Gly	rs576849289	missense variant	-	NC_000004.12:g.39232249A>G	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser744Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39232251C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Pro746Ser	rs372232320	missense variant	-	NC_000004.12:g.39232255C>T	ESP,TOPMed
WDR19	Q8NEZ3	p.Ile747Val	rs144335584	missense variant	-	NC_000004.12:g.39232258A>G	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile747Val	RCV000542232	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39232258A>G	ClinVar
WDR19	Q8NEZ3	p.Glu751Asp	rs1170632040	missense variant	-	NC_000004.12:g.39232272G>T	TOPMed
WDR19	Q8NEZ3	p.Glu751Gly	rs778651224	missense variant	-	NC_000004.12:g.39232271A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Met752Lys	rs1247355854	missense variant	-	NC_000004.12:g.39234767T>A	gnomAD
WDR19	Q8NEZ3	p.Arg754Lys	rs1477781128	missense variant	-	NC_000004.12:g.39234773G>A	gnomAD
WDR19	Q8NEZ3	p.Arg754Ser	rs976523838	missense variant	-	NC_000004.12:g.39234774G>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp755Asn	rs1426110472	missense variant	-	NC_000004.12:g.39234775G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln757Ter	rs374846363	stop gained	-	NC_000004.12:g.39234781C>T	ESP,ExAC,gnomAD
WDR19	Q8NEZ3	p.His758Asn	rs577133819	missense variant	-	NC_000004.12:g.39234784C>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Trp759Gly	rs1362554183	missense variant	-	NC_000004.12:g.39234787T>G	TOPMed
WDR19	Q8NEZ3	p.Trp759Ter	rs978366659	stop gained	-	NC_000004.12:g.39234788G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser761Gly	rs1329996681	missense variant	-	NC_000004.12:g.39234793A>G	gnomAD
WDR19	Q8NEZ3	p.Ala762Val	rs774388282	missense variant	-	NC_000004.12:g.39234797C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu763Ile	rs1475702302	missense variant	-	NC_000004.12:g.39234799C>A	TOPMed
WDR19	Q8NEZ3	p.Gln764His	rs1340705825	missense variant	-	NC_000004.12:g.39234804A>T	gnomAD
WDR19	Q8NEZ3	p.Pro771Leu	rs1249345016	missense variant	-	NC_000004.12:g.39234824C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp772Glu	rs1358279706	missense variant	-	NC_000004.12:g.39234828C>G	gnomAD
WDR19	Q8NEZ3	p.Asp772Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39234826G>T	NCI-TCGA
WDR19	Q8NEZ3	p.Asp772Glu	COSM1485945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39234828C>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ile774Leu	rs762043395	missense variant	-	NC_000004.12:g.39234832A>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile774Val	rs762043395	missense variant	-	NC_000004.12:g.39234832A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro775Thr	rs767684356	missense variant	-	NC_000004.12:g.39234835C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro775Ser	rs767684356	missense variant	-	NC_000004.12:g.39234835C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile777Val	rs373737104	missense variant	-	NC_000004.12:g.39234841A>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser778Thr	rs545547031	missense variant	-	NC_000004.12:g.39234844T>A	1000Genomes
WDR19	Q8NEZ3	p.Lys779Glu	rs1265464277	missense variant	-	NC_000004.12:g.39234847A>G	gnomAD
WDR19	Q8NEZ3	p.Glu780Lys	rs765071434	missense variant	-	NC_000004.12:g.39234850G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr781His	rs752647027	missense variant	-	NC_000004.12:g.39234853T>C	ExAC
WDR19	Q8NEZ3	p.Ile783Val	rs1055716143	missense variant	-	NC_000004.12:g.39234859A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Phe787Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39234873C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Ala788Val	rs867487924	missense variant	-	NC_000004.12:g.39234875C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala788Thr	rs768082694	missense variant	-	NC_000004.12:g.39234874G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly789Cys	rs199904529	missense variant	-	NC_000004.12:g.39240278G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly789Val	rs1488689475	missense variant	-	NC_000004.12:g.39240279G>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly789Ser	rs199904529	missense variant	-	NC_000004.12:g.39240278G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly789Ser	RCV000274698	missense variant	-	NC_000004.12:g.39240278G>A	ClinVar
WDR19	Q8NEZ3	p.Val792Leu	rs1259960078	missense variant	-	NC_000004.12:g.39240287G>T	gnomAD
WDR19	Q8NEZ3	p.Asn793Thr	rs1188633968	missense variant	-	NC_000004.12:g.39240291A>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn793Asp	rs780435361	missense variant	-	NC_000004.12:g.39240290A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn793His	rs780435361	missense variant	-	NC_000004.12:g.39240290A>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala794Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39240294C>T	NCI-TCGA
WDR19	Q8NEZ3	p.Ala796Thr	rs187332731	missense variant	-	NC_000004.12:g.39240299G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His797Tyr	rs1430090396	missense variant	-	NC_000004.12:g.39240302C>T	TOPMed
WDR19	Q8NEZ3	p.Tyr798His	rs761816896	missense variant	-	NC_000004.12:g.39240305T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu799Lys	rs889317966	missense variant	-	NC_000004.12:g.39240308G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Lys800Glu	rs1418611339	missense variant	-	NC_000004.12:g.39240311A>G	gnomAD
WDR19	Q8NEZ3	p.Gly801Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39240314G>T	NCI-TCGA
WDR19	Q8NEZ3	p.Ile802Lys	rs772297321	missense variant	-	NC_000004.12:g.39240318T>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr803Arg	rs1403846203	missense variant	-	NC_000004.12:g.39240321C>G	gnomAD
WDR19	Q8NEZ3	p.Asp805Asn	rs773485387	missense variant	-	NC_000004.12:g.39240326G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu808Asp	rs1466177980	missense variant	-	NC_000004.12:g.39244250A>C	gnomAD
WDR19	Q8NEZ3	p.His809Arg	rs1403624957	missense variant	-	NC_000004.12:g.39244252A>G	gnomAD
WDR19	Q8NEZ3	p.His809Tyr	rs780300357	missense variant	-	NC_000004.12:g.39244251C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp810Glu	rs1375996391	missense variant	-	NC_000004.12:g.39244256T>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp810Tyr	rs1168307194	missense variant	-	NC_000004.12:g.39244254G>T	TOPMed
WDR19	Q8NEZ3	p.Asp810Gly	RCV000358029	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39244255A>G	ClinVar
WDR19	Q8NEZ3	p.Asp810Gly	RCV000265585	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39244255A>G	ClinVar
WDR19	Q8NEZ3	p.Asp810Gly	rs886059400	missense variant	-	NC_000004.12:g.39244255A>G	gnomAD
WDR19	Q8NEZ3	p.Gly816Arg	rs1389610954	missense variant	-	NC_000004.12:g.39244272G>A	gnomAD
WDR19	Q8NEZ3	p.Val817Glu	rs749621367	missense variant	-	NC_000004.12:g.39244276T>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln819Lys	rs779337768	missense variant	-	NC_000004.12:g.39244281C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met820Ile	rs1262800597	missense variant	-	NC_000004.12:g.39244286G>A	gnomAD
WDR19	Q8NEZ3	p.Ile822Met	rs772209666	missense variant	-	NC_000004.12:g.39244292A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile822Val	rs138364911	missense variant	-	NC_000004.12:g.39244290A>G	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile822Leu	rs138364911	missense variant	-	NC_000004.12:g.39244290A>T	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg823Gly	rs1259149644	missense variant	-	NC_000004.12:g.39244293A>G	gnomAD
WDR19	Q8NEZ3	p.Met824Ile	rs1175997746	missense variant	-	NC_000004.12:g.39244298G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met824Val	rs1480552569	missense variant	-	NC_000004.12:g.39244296A>G	gnomAD
WDR19	Q8NEZ3	p.Gly825Ala	rs773315219	missense variant	-	NC_000004.12:g.39244300G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp826Glu	COSM481242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39244304C>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ile827Arg	rs747244934	missense variant	-	NC_000004.12:g.39244306T>G	ExAC
WDR19	Q8NEZ3	p.Arg828Cys	rs1211391439	missense variant	-	NC_000004.12:g.39244308C>T	TOPMed
WDR19	Q8NEZ3	p.Arg828His	rs771137155	missense variant	-	NC_000004.12:g.39244309G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg829Gln	rs375285886	missense variant	-	NC_000004.12:g.39244312G>A	ESP,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg829Gly	rs775181779	missense variant	-	NC_000004.12:g.39244311C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg829Ter	COSM1055204	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39244311C>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Gly830Glu	rs1399293853	missense variant	-	NC_000004.12:g.39244315G>A	gnomAD
WDR19	Q8NEZ3	p.Gly830Arg	rs762744592	missense variant	-	NC_000004.12:g.39244314G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Val831Ala	rs934792994	missense variant	-	NC_000004.12:g.39244318T>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala834Thr	rs774495631	missense variant	-	NC_000004.12:g.39244326G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu835Val	rs376711429	missense variant	-	NC_000004.12:g.39244329C>G	ESP,TOPMed
WDR19	Q8NEZ3	p.Lys836Gln	rs371545746	missense variant	-	NC_000004.12:g.39244332A>C	ESP,ExAC,gnomAD
WDR19	Q8NEZ3	p.Lys836Arg	rs1241843175	missense variant	-	NC_000004.12:g.39244333A>G	TOPMed
WDR19	Q8NEZ3	p.Pro838Ser	COSM4398448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39244338C>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Val841Ile	rs1349223638	missense variant	-	NC_000004.12:g.39244347G>A	TOPMed
WDR19	Q8NEZ3	p.Leu842Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39244350C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Cys846Trp	rs749895221	missense variant	-	NC_000004.12:g.39244364T>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys846Tyr	rs1053031414	missense variant	-	NC_000004.12:g.39244363G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala848Val	rs893172558	missense variant	-	NC_000004.12:g.39244369C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile849Met	rs755749646	missense variant	-	NC_000004.12:g.39244373A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu851Asp	rs1332458650	missense variant	-	NC_000004.12:g.39244379G>T	TOPMed
WDR19	Q8NEZ3	p.Asn852Ser	rs765986147	missense variant	-	NC_000004.12:g.39244381A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Met853Thr	rs771801929	missense variant	-	NC_000004.12:g.39244384T>C	TOPMed
WDR19	Q8NEZ3	p.Lys854Gln	rs1408848853	missense variant	-	NC_000004.12:g.39244386A>C	TOPMed
WDR19	Q8NEZ3	p.Lys854Asn	rs1203025739	missense variant	-	NC_000004.12:g.39244388G>T	gnomAD
WDR19	Q8NEZ3	p.Gln855Ter	rs772599282	stop gained	-	NC_000004.12:g.39244470C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln855Ter	RCV000515874	nonsense	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39244470C>T	ClinVar
WDR19	Q8NEZ3	p.Ser857Ter	rs897076709	stop gained	-	NC_000004.12:g.39244477C>G	TOPMed
WDR19	Q8NEZ3	p.Ala859Val	rs1241209326	missense variant	-	NC_000004.12:g.39244483C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu862Pro	rs1414268971	missense variant	-	NC_000004.12:g.39244492T>C	gnomAD
WDR19	Q8NEZ3	p.Tyr863Cys	rs1297312397	missense variant	-	NC_000004.12:g.39244495A>G	gnomAD
WDR19	Q8NEZ3	p.Glu864Gly	rs765643216	missense variant	-	NC_000004.12:g.39244498A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Lys865Asn	rs1383452852	missense variant	-	NC_000004.12:g.39244502A>C	gnomAD
WDR19	Q8NEZ3	p.Leu867Val	rs753011624	missense variant	-	NC_000004.12:g.39244506C>G	ExAC,TOPMed
WDR19	Q8NEZ3	p.Leu867Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39244506C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Tyr868Cys	rs1306179404	missense variant	-	NC_000004.12:g.39244510A>G	gnomAD
WDR19	Q8NEZ3	p.Tyr869Cys	rs202129445	missense variant	-	NC_000004.12:g.39244513A>G	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp870Asn	rs201963605	missense variant	-	NC_000004.12:g.39244515G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp870Asn	RCV000486591	missense variant	-	NC_000004.12:g.39244515G>A	ClinVar
WDR19	Q8NEZ3	p.Lys871Gln	rs781099499	missense variant	-	NC_000004.12:g.39244518A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala873Val	rs746141233	missense variant	-	NC_000004.12:g.39244525C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala873Ser	COSM4929103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39244524G>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Val875Ile	rs1355202966	missense variant	-	NC_000004.12:g.39244530G>A	gnomAD
WDR19	Q8NEZ3	p.Val875Ala	rs1240185188	missense variant	-	NC_000004.12:g.39244531T>C	gnomAD
WDR19	Q8NEZ3	p.Tyr876Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39244534A>G	NCI-TCGA
WDR19	Q8NEZ3	p.Arg878Gly	rs770091572	missense variant	-	NC_000004.12:g.39244539C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg878His	rs369494725	missense variant	-	NC_000004.12:g.39244540G>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg878Cys	rs770091572	missense variant	-	NC_000004.12:g.39244539C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Lys880Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39244547G>T	NCI-TCGA
WDR19	Q8NEZ3	p.Lys880Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39244545A>G	NCI-TCGA
WDR19	Q8NEZ3	p.Asn881Ser	rs1190496124	missense variant	-	NC_000004.12:g.39244549A>G	TOPMed
WDR19	Q8NEZ3	p.Ala883Glu	rs1328854619	missense variant	-	NC_000004.12:g.39245371C>A	gnomAD
WDR19	Q8NEZ3	p.Lys884Thr	rs1352225369	missense variant	-	NC_000004.12:g.39245374A>C	gnomAD
WDR19	Q8NEZ3	p.Gly886Val	COSM447830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39245380G>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Asp887Asn	rs747019863	missense variant	-	NC_000004.12:g.39245382G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp887Val	rs1346537581	missense variant	-	NC_000004.12:g.39245383A>T	TOPMed
WDR19	Q8NEZ3	p.Leu888Ile	rs770729864	missense variant	-	NC_000004.12:g.39245385C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu889Val	rs776150299	missense variant	-	NC_000004.12:g.39245388C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Pro890Leu	rs1231847370	missense variant	-	NC_000004.12:g.39245392C>T	TOPMed
WDR19	Q8NEZ3	p.Pro890Ser	rs1318406101	missense variant	-	NC_000004.12:g.39245391C>T	gnomAD
WDR19	Q8NEZ3	p.His891Arg	rs775183048	missense variant	-	NC_000004.12:g.39245395A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.His891Gln	rs753954843	missense variant	-	NC_000004.12:g.39245396C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His891Tyr	rs200266424	missense variant	-	NC_000004.12:g.39245394C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His891ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39245391C>-	NCI-TCGA
WDR19	Q8NEZ3	p.His891Tyr	RCV000756917	missense variant	-	NC_000004.12:g.39245394C>T	ClinVar
WDR19	Q8NEZ3	p.Val892Leu	rs551049157	missense variant	-	NC_000004.12:g.39245397G>C	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val892Ile	rs551049157	missense variant	-	NC_000004.12:g.39245397G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser893Phe	COSM3736829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39245401C>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Pro895Arg	rs774529884	missense variant	-	NC_000004.12:g.39245407C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Pro895Ser	COSM3603571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39245406C>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ile897Met	rs762413629	missense variant	-	NC_000004.12:g.39245414C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.His898Tyr	rs750540552	missense variant	-	NC_000004.12:g.39245415C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gln900Arg	rs956177833	missense variant	-	NC_000004.12:g.39245422A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr901His	rs1426232037	missense variant	-	NC_000004.12:g.39245424T>C	gnomAD
WDR19	Q8NEZ3	p.Tyr901Cys	rs76326086	missense variant	-	NC_000004.12:g.39245425A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala902Ser	rs1170942899	missense variant	-	NC_000004.12:g.39245427G>T	TOPMed
WDR19	Q8NEZ3	p.Lys903Asn	rs1394903886	missense variant	-	NC_000004.12:g.39245432A>C	gnomAD
WDR19	Q8NEZ3	p.Ala904Thr	rs1407602801	missense variant	-	NC_000004.12:g.39245433G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala904Val	COSM1055205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39245434C>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ala907Val	rs201967816	missense variant	-	NC_000004.12:g.39245443C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp908His	rs567839628	missense variant	-	NC_000004.12:g.39245445G>C	1000Genomes,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg910Ser	COSM4124571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39253146A>C	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Lys912Glu	rs1351587544	missense variant	-	NC_000004.12:g.39253150A>G	gnomAD
WDR19	Q8NEZ3	p.Ala914Asp	rs766616967	missense variant	-	NC_000004.12:g.39253157C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Val915Leu	rs183029614	missense variant	-	NC_000004.12:g.39253159G>C	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Val915Ala	rs1184718042	missense variant	-	NC_000004.12:g.39253160T>C	gnomAD
WDR19	Q8NEZ3	p.Val916Ile	rs1243020744	missense variant	-	NC_000004.12:g.39253162G>A	gnomAD
WDR19	Q8NEZ3	p.Gln925Pro	rs1363895381	missense variant	-	NC_000004.12:g.39253190A>C	gnomAD
WDR19	Q8NEZ3	p.Ser926Ile	rs751386429	missense variant	-	NC_000004.12:g.39253193G>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser926Ile	RCV000171376	missense variant	-	NC_000004.12:g.39253193G>T	ClinVar
WDR19	Q8NEZ3	p.Ser926Asn	rs751386429	missense variant	-	NC_000004.12:g.39253193G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Val927Ile	rs757105603	missense variant	-	NC_000004.12:g.39253195G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile928Phe	rs780963454	missense variant	-	NC_000004.12:g.39253198A>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile928Phe	RCV000375381	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39253198A>T	ClinVar
WDR19	Q8NEZ3	p.Ile928Phe	RCV000318476	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39253198A>T	ClinVar
WDR19	Q8NEZ3	p.Arg929His	rs201685269	missense variant	-	NC_000004.12:g.39253202G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg929Cys	rs1470166429	missense variant	-	NC_000004.12:g.39253201C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile930Thr	rs935642323	missense variant	-	NC_000004.12:g.39253205T>C	gnomAD
WDR19	Q8NEZ3	p.Tyr931Ser	RCV000154140	missense variant	-	NC_000004.12:g.39253208A>C	ClinVar
WDR19	Q8NEZ3	p.Tyr931Ser	rs187546086	missense variant	-	NC_000004.12:g.39253208A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu932Val	rs779568147	missense variant	-	NC_000004.12:g.39253210C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asp933Asn	rs1336488796	missense variant	-	NC_000004.12:g.39253213G>A	gnomAD
WDR19	Q8NEZ3	p.Asn936Ser	rs748675700	missense variant	-	NC_000004.12:g.39253223A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu939Ala	rs1259224820	missense variant	-	NC_000004.12:g.39253232A>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu939Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39253232A>G	NCI-TCGA
WDR19	Q8NEZ3	p.Ala941Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39253237G>A	NCI-TCGA
WDR19	Q8NEZ3	p.Ala941Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39253238C>T	NCI-TCGA
WDR19	Q8NEZ3	p.Asn943Asp	rs1243183398	missense variant	-	NC_000004.12:g.39253243A>G	TOPMed
WDR19	Q8NEZ3	p.Asn943Ser	rs778487491	missense variant	-	NC_000004.12:g.39253244A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn943Thr	rs778487491	missense variant	-	NC_000004.12:g.39253244A>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile944Ser	rs1262914674	missense variant	-	NC_000004.12:g.39253247T>G	gnomAD
WDR19	Q8NEZ3	p.Ile944Ter	RCV000731748	frameshift	-	NC_000004.12:g.39253246_39253282del	ClinVar
WDR19	Q8NEZ3	p.Val945Phe	rs747830344	missense variant	-	NC_000004.12:g.39253249G>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val945Ile	rs747830344	missense variant	-	NC_000004.12:g.39253249G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg946Thr	COSM3825816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39253253G>C	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Gln949Ter	rs932260612	stop gained	-	NC_000004.12:g.39253261C>T	TOPMed
WDR19	Q8NEZ3	p.Gln949His	rs1317776615	missense variant	-	NC_000004.12:g.39253263G>C	TOPMed
WDR19	Q8NEZ3	p.Ser950Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39253265C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Ser950Thr	COSM1429607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39253264T>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Leu951Arg	rs1179525560	missense variant	-	NC_000004.12:g.39253268T>G	gnomAD
WDR19	Q8NEZ3	p.Gly953Arg	rs772603713	missense variant	-	NC_000004.12:g.39253273G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Met956Thr	rs1239942540	missense variant	-	NC_000004.12:g.39253283T>C	gnomAD
WDR19	Q8NEZ3	p.Ala958Thr	rs1057523257	missense variant	-	NC_000004.12:g.39253288G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala958Val	rs1179202624	missense variant	-	NC_000004.12:g.39253289C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala958Thr	RCV000417853	missense variant	-	NC_000004.12:g.39253288G>A	ClinVar
WDR19	Q8NEZ3	p.Arg959Ser	rs747806533	missense variant	-	NC_000004.12:g.39253906G>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Phe960Leu	rs1171033092	missense variant	-	NC_000004.12:g.39253909T>G	gnomAD
WDR19	Q8NEZ3	p.Leu962Gln	rs1372390276	missense variant	-	NC_000004.12:g.39253914T>A	gnomAD
WDR19	Q8NEZ3	p.Gln963Lys	rs1460409474	missense variant	-	NC_000004.12:g.39253916C>A	gnomAD
WDR19	Q8NEZ3	p.Leu964Ile	rs1367593926	missense variant	-	NC_000004.12:g.39253919C>A	gnomAD
WDR19	Q8NEZ3	p.Gly965Val	rs778314721	missense variant	-	NC_000004.12:g.39253923G>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr967Phe	rs747311068	missense variant	-	NC_000004.12:g.39253929A>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr967Cys	rs747311068	missense variant	-	NC_000004.12:g.39253929A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly968Glu	rs1296775475	missense variant	-	NC_000004.12:g.39253932G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala970Val	rs771583357	missense variant	-	NC_000004.12:g.39253938C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln972Ter	rs1225892978	stop gained	-	NC_000004.12:g.39253943C>T	gnomAD
WDR19	Q8NEZ3	p.Leu974Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39253949C>G	NCI-TCGA
WDR19	Q8NEZ3	p.Val975Ile	rs777066512	missense variant	-	NC_000004.12:g.39253952G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Met976Ile	rs1221235875	missense variant	-	NC_000004.12:g.39253957G>A	gnomAD
WDR19	Q8NEZ3	p.Asn980Ile	rs1266391176	missense variant	-	NC_000004.12:g.39253968A>T	gnomAD
WDR19	Q8NEZ3	p.Asn980Ser	rs1266391176	missense variant	-	NC_000004.12:g.39253968A>G	gnomAD
WDR19	Q8NEZ3	p.Asn981Lys	rs1228825144	missense variant	-	NC_000004.12:g.39253972T>G	TOPMed
WDR19	Q8NEZ3	p.Asn981His	rs1486655648	missense variant	-	NC_000004.12:g.39253970A>C	gnomAD
WDR19	Q8NEZ3	p.Asn981Ser	rs760087826	missense variant	-	NC_000004.12:g.39253971A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu982Gly	rs923164828	missense variant	-	NC_000004.12:g.39253974A>G	TOPMed
WDR19	Q8NEZ3	p.Ala983Val	rs1293022423	missense variant	-	NC_000004.12:g.39253977C>T	TOPMed
WDR19	Q8NEZ3	p.Ala983Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39253976G>A	NCI-TCGA
WDR19	Q8NEZ3	p.Thr985Lys	rs769807270	missense variant	-	NC_000004.12:g.39253983C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln988Glu	rs1426648295	missense variant	-	NC_000004.12:g.39253991C>G	gnomAD
WDR19	Q8NEZ3	p.Asn991Ser	rs763190830	missense variant	-	NC_000004.12:g.39254001A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn991His	rs1387129500	missense variant	-	NC_000004.12:g.39254000A>C	gnomAD
WDR19	Q8NEZ3	p.Lys992Gln	rs764231106	missense variant	-	NC_000004.12:g.39254003A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Met993Lys	rs750227475	missense variant	-	NC_000004.12:g.39254007T>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Met993Ile	rs1289762811	missense variant	-	NC_000004.12:g.39254008G>A	gnomAD
WDR19	Q8NEZ3	p.Tyr996Cys	rs377060728	missense variant	-	NC_000004.12:g.39254016A>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala997Glu	rs1381022232	missense variant	-	NC_000004.12:g.39254019C>A	gnomAD
WDR19	Q8NEZ3	p.Ile999Val	rs1317827006	missense variant	-	NC_000004.12:g.39254024A>G	gnomAD
WDR19	Q8NEZ3	p.Glu1003Lys	rs915222156	missense variant	-	NC_000004.12:g.39255853G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu1003Gly	rs201354264	missense variant	-	NC_000004.12:g.39255854A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu1003Gly	RCV000500098	missense variant	-	NC_000004.12:g.39255854A>G	ClinVar
WDR19	Q8NEZ3	p.Thr1005Ala	rs757632232	missense variant	-	NC_000004.12:g.39255859A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr1005Ser	rs757632232	missense variant	-	NC_000004.12:g.39255859A>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr1006Ala	rs199678654	missense variant	-	NC_000004.12:g.39255862A>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Thr1006Ala	RCV000387978	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39255862A>G	ClinVar
WDR19	Q8NEZ3	p.Thr1006Ala	RCV000296083	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39255862A>G	ClinVar
WDR19	Q8NEZ3	p.Asn1007Thr	rs1227206982	missense variant	-	NC_000004.12:g.39255866A>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp1009Ala	rs1314784717	missense variant	-	NC_000004.12:g.39255872A>C	gnomAD
WDR19	Q8NEZ3	p.Asp1009Asn	rs746380673	missense variant	-	NC_000004.12:g.39255871G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp1009Tyr	COSM1055209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39255871G>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Tyr1010Cys	rs548534755	missense variant	-	NC_000004.12:g.39255875A>G	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln1011Lys	rs749303864	missense variant	-	NC_000004.12:g.39255877C>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln1011Glu	rs749303864	missense variant	-	NC_000004.12:g.39255877C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser1012Asn	rs768709445	missense variant	-	NC_000004.12:g.39255881G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile1013Thr	rs774622700	missense variant	-	NC_000004.12:g.39255884T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala1014Thr	rs1046069294	missense variant	-	NC_000004.12:g.39255886G>A	TOPMed
WDR19	Q8NEZ3	p.Tyr1016Cys	rs1177977020	missense variant	-	NC_000004.12:g.39255893A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Phe1017Val	rs778689889	missense variant	-	NC_000004.12:g.39255895T>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly1019Arg	rs200348598	missense variant	-	NC_000004.12:g.39255901G>A	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg1022Thr	rs1178959769	missense variant	-	NC_000004.12:g.39255911G>C	gnomAD
WDR19	Q8NEZ3	p.Tyr1023Cys	rs759424617	missense variant	-	NC_000004.12:g.39255914A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr1023Ser	rs759424617	missense variant	-	NC_000004.12:g.39255914A>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr1023Ter	rs786205114	stop gained	Nephronophthisis 13 (nphp13)	NC_000004.12:g.39255914dup	-
WDR19	Q8NEZ3	p.Tyr1023Ter	RCV000023685	nonsense	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39255914dup	ClinVar
WDR19	Q8NEZ3	p.Leu1024Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39255916C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Phe1029Leu	rs1355749140	missense variant	-	NC_000004.12:g.39255933C>A	gnomAD
WDR19	Q8NEZ3	p.Cys1033Gly	rs1442233570	missense variant	-	NC_000004.12:g.39255943T>G	gnomAD
WDR19	Q8NEZ3	p.Gly1034Ser	rs752268355	missense variant	-	NC_000004.12:g.39255946G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gln1035Pro	rs758044483	missense variant	-	NC_000004.12:g.39255950A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gln1035Ter	rs1396808288	stop gained	-	NC_000004.12:g.39255949C>T	TOPMed
WDR19	Q8NEZ3	p.Ser1037Leu	rs1224983700	missense variant	-	NC_000004.12:g.39255956C>T	gnomAD
WDR19	Q8NEZ3	p.Arg1038Ter	rs748174246	stop gained	-	NC_000004.12:g.39255958C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg1038Gln	rs1322637464	missense variant	-	NC_000004.12:g.39255959G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1038Ter	RCV000779442	nonsense	WDR19-Related Disorders	NC_000004.12:g.39255958C>T	ClinVar
WDR19	Q8NEZ3	p.Lys1041Gln	rs1269806951	missense variant	-	NC_000004.12:g.39257492A>C	gnomAD
WDR19	Q8NEZ3	p.His1042Arg	rs1449526960	missense variant	-	NC_000004.12:g.39257496A>G	TOPMed
WDR19	Q8NEZ3	p.His1042Gln	rs1490255888	missense variant	-	NC_000004.12:g.39257497C>G	gnomAD
WDR19	Q8NEZ3	p.Cys1046Arg	rs762956522	missense variant	-	NC_000004.12:g.39257507T>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro1047Leu	rs1244203665	missense variant	-	NC_000004.12:g.39257511C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser1049Leu	rs763748984	missense variant	-	NC_000004.12:g.39257517C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp1051Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39257524T>G	NCI-TCGA
WDR19	Q8NEZ3	p.Asp1051Tyr	rs1387754769	missense variant	-	NC_000004.12:g.39257522G>T	gnomAD
WDR19	Q8NEZ3	p.Val1053Ala	rs1163694118	missense variant	-	NC_000004.12:g.39257529T>C	gnomAD
WDR19	Q8NEZ3	p.Ala1054Thr	rs756862143	missense variant	-	NC_000004.12:g.39257531G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu1056Gln	rs1384721795	missense variant	-	NC_000004.12:g.39257537G>C	gnomAD
WDR19	Q8NEZ3	p.Met1057Ile	rs1160741886	missense variant	-	NC_000004.12:g.39257542G>A	TOPMed
WDR19	Q8NEZ3	p.Ala1058Ser	rs768769727	missense variant	-	NC_000004.12:g.39257543G>T	gnomAD
WDR19	Q8NEZ3	p.Ala1058Thr	rs768769727	missense variant	-	NC_000004.12:g.39257543G>A	gnomAD
WDR19	Q8NEZ3	p.Glu1060Asp	rs767135846	missense variant	-	NC_000004.12:g.39257551A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Val1062Ile	rs1281541784	missense variant	-	NC_000004.12:g.39266063G>A	gnomAD
WDR19	Q8NEZ3	p.Gly1063Asp	rs760222006	missense variant	-	NC_000004.12:g.39266067G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala1065Thr	rs961651026	missense variant	-	NC_000004.12:g.39266072G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp1067Val	rs550125129	missense variant	-	NC_000004.12:g.39266079A>T	1000Genomes,TOPMed
WDR19	Q8NEZ3	p.Thr1071Ala	rs1463002459	missense variant	-	NC_000004.12:g.39266090A>G	gnomAD
WDR19	Q8NEZ3	p.Asn1072Ser	rs1204925685	missense variant	-	NC_000004.12:g.39266094A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile1075Thr	rs1241951973	missense variant	-	NC_000004.12:g.39266103T>C	gnomAD
WDR19	Q8NEZ3	p.Ile1075Leu	rs1288751943	missense variant	-	NC_000004.12:g.39266102A>T	TOPMed
WDR19	Q8NEZ3	p.Asp1076Asn	rs1421595214	missense variant	-	NC_000004.12:g.39266105G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.His1077Arg	rs1183381045	missense variant	-	NC_000004.12:g.39266109A>G	gnomAD
WDR19	Q8NEZ3	p.Leu1078Phe	rs1363976803	missense variant	-	NC_000004.12:g.39266111C>T	gnomAD
WDR19	Q8NEZ3	p.Glu1081Asp	rs1469310501	missense variant	-	NC_000004.12:g.39266122G>C	gnomAD
WDR19	Q8NEZ3	p.Asn1082Ile	rs1156609878	missense variant	-	NC_000004.12:g.39266124A>T	gnomAD
WDR19	Q8NEZ3	p.Asp1083Asn	rs376167184	missense variant	-	NC_000004.12:g.39266126G>A	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly1084Ser	rs16995209	missense variant	-	NC_000004.12:g.39266129G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly1084Ser	rs16995209	missense variant	-	NC_000004.12:g.39266129G>A	UniProt,dbSNP
WDR19	Q8NEZ3	p.Gly1084Ser	VAR_053424	missense variant	-	NC_000004.12:g.39266129G>A	UniProt
WDR19	Q8NEZ3	p.Gly1084Val	rs1394317306	missense variant	-	NC_000004.12:g.39266130G>T	gnomAD
WDR19	Q8NEZ3	p.Gly1084Ser	RCV000250398	missense variant	-	NC_000004.12:g.39266129G>A	ClinVar
WDR19	Q8NEZ3	p.Gly1084Ser	RCV000554837	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39266129G>A	ClinVar
WDR19	Q8NEZ3	p.Met1085Ile	rs1283745126	missense variant	-	NC_000004.12:g.39266134G>A	TOPMed
WDR19	Q8NEZ3	p.Met1085Leu	rs1331013833	missense variant	-	NC_000004.12:g.39266132A>C	gnomAD
WDR19	Q8NEZ3	p.Asp1088Asn	rs758813538	missense variant	-	NC_000004.12:g.39267995G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala1089Val	rs1270538245	missense variant	-	NC_000004.12:g.39267999C>T	gnomAD
WDR19	Q8NEZ3	p.Lys1090Gln	rs147302274	missense variant	-	NC_000004.12:g.39268001A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu1092Arg	rs545557012	missense variant	-	NC_000004.12:g.39268008T>G	1000Genomes,ExAC
WDR19	Q8NEZ3	p.Arg1094His	rs781620821	missense variant	-	NC_000004.12:g.39268014G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg1094Cys	rs757564170	missense variant	-	NC_000004.12:g.39268013C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu1095Phe	rs183296907	missense variant	-	NC_000004.12:g.39268018G>T	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu1095Phe	rs183296907	missense variant	-	NC_000004.12:g.39268018G>C	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr1096Ter	rs779476359	stop gained	-	NC_000004.12:g.39268021C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Met1097Val	rs771862503	missense variant	-	NC_000004.12:g.39268022A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala1098Ser	rs527761478	missense variant	-	NC_000004.12:g.39268025G>T	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg1103Ter	rs387906981	stop gained	Cranioectodermal dysplasia 4 (ced4)	NC_000004.12:g.39268040C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1103Gln	rs567310076	missense variant	-	NC_000004.12:g.39268041G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1103Gln	RCV000508219	missense variant	-	NC_000004.12:g.39268041G>A	ClinVar
WDR19	Q8NEZ3	p.Arg1103Ter	RCV000023682	nonsense	Cranioectodermal dysplasia 4 (CED4)	NC_000004.12:g.39268040C>T	ClinVar
WDR19	Q8NEZ3	p.Gln1107Ter	rs1401145684	stop gained	-	NC_000004.12:g.39268052C>T	TOPMed
WDR19	Q8NEZ3	p.Ala1109Val	rs1296984210	missense variant	-	NC_000004.12:g.39268059C>T	gnomAD
WDR19	Q8NEZ3	p.Ala1109Thr	rs375794458	missense variant	-	NC_000004.12:g.39268058G>A	ESP,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile1110Val	rs1225497106	missense variant	-	NC_000004.12:g.39268061A>G	gnomAD
WDR19	Q8NEZ3	p.Ile1111Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39268066C>G	NCI-TCGA
WDR19	Q8NEZ3	p.Ile1112Thr	rs775672960	missense variant	-	NC_000004.12:g.39268068T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu1115Lys	rs1359638534	missense variant	-	NC_000004.12:g.39268076G>A	gnomAD
WDR19	Q8NEZ3	p.Glu1116Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39268079G>A	NCI-TCGA
WDR19	Q8NEZ3	p.Ser1118Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39268086C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Gly1120Ser	rs1436389201	missense variant	-	NC_000004.12:g.39268091G>A	TOPMed
WDR19	Q8NEZ3	p.Gly1120Asp	COSM1055211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39269976G>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Asn1121Ser	rs545916111	missense variant	-	NC_000004.12:g.39269979A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn1121Ser	RCV000297589	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39269979A>G	ClinVar
WDR19	Q8NEZ3	p.Asn1121Ser	RCV000263503	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39269979A>G	ClinVar
WDR19	Q8NEZ3	p.Arg1123Gln	rs764512369	missense variant	-	NC_000004.12:g.39269985G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1123Trp	rs369310189	missense variant	-	NC_000004.12:g.39269984C>T	ESP,TOPMed
WDR19	Q8NEZ3	p.Asp1127Asn	rs767727756	missense variant	-	NC_000004.12:g.39269996G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val1128Ala	rs372799054	missense variant	-	NC_000004.12:g.39270000T>C	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Val1128Ile	COSM6167111	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39269999G>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Val1128Ala	RCV000526409	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39270000T>C	ClinVar
WDR19	Q8NEZ3	p.Ser1131Asn	rs1411765963	missense variant	-	NC_000004.12:g.39270009G>A	gnomAD
WDR19	Q8NEZ3	p.Tyr1133His	rs1187864679	missense variant	-	NC_000004.12:g.39270014T>C	TOPMed
WDR19	Q8NEZ3	p.Ala1134Thr	rs398124412	missense variant	-	NC_000004.12:g.39270017G>A	-
WDR19	Q8NEZ3	p.Ala1134Thr	RCV000082251	missense variant	-	NC_000004.12:g.39270017G>A	ClinVar
WDR19	Q8NEZ3	p.Lys1137Thr	COSM6100012	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39270027A>C	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ser1138Cys	rs547583427	missense variant	-	NC_000004.12:g.39270030C>G	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser1138Tyr	rs547583427	missense variant	-	NC_000004.12:g.39270030C>A	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Gln1139Arg	rs75621037	missense variant	-	NC_000004.12:g.39270033A>G	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gln1139Glu	rs554267448	missense variant	-	NC_000004.12:g.39270032C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gln1139Arg	RCV000354756	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39270033A>G	ClinVar
WDR19	Q8NEZ3	p.Gln1139Arg	RCV000276391	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39270033A>G	ClinVar
WDR19	Q8NEZ3	p.Lys1142Thr	rs757140528	missense variant	-	NC_000004.12:g.39270042A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Pro1144Ser	rs780714075	missense variant	-	NC_000004.12:g.39270047C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro1144Leu	rs1336097510	missense variant	-	NC_000004.12:g.39270048C>T	TOPMed
WDR19	Q8NEZ3	p.Ser1145Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39270051C>G	NCI-TCGA
WDR19	Q8NEZ3	p.Ser1145Phe	rs199625785	missense variant	-	NC_000004.12:g.39270051C>T	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu1146Lys	rs779635441	missense variant	-	NC_000004.12:g.39270053G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu1146Asp	COSM1310040	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39270055G>C	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Met1147Val	rs886059401	missense variant	-	NC_000004.12:g.39270056A>G	-
WDR19	Q8NEZ3	p.Met1147Val	RCV000333705	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39270056A>G	ClinVar
WDR19	Q8NEZ3	p.Met1147Val	RCV000385898	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39270056A>G	ClinVar
WDR19	Q8NEZ3	p.Ala1148Val	rs1235824066	missense variant	-	NC_000004.12:g.39270060C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn1150Asp	COSM1429609	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39270065A>G	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ile1153Thr	rs768947798	missense variant	-	NC_000004.12:g.39270075T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.His1155Pro	rs774806370	missense variant	-	NC_000004.12:g.39270081A>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His1155Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39270082C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Tyr1157Asp	rs908231846	missense variant	-	NC_000004.12:g.39270086T>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr1157His	rs908231846	missense variant	-	NC_000004.12:g.39270086T>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Tyr1157Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39270088T>A	NCI-TCGA
WDR19	Q8NEZ3	p.Ile1158Met	rs760312911	missense variant	-	NC_000004.12:g.39270091A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile1158Val	rs1426405030	missense variant	-	NC_000004.12:g.39270089A>G	gnomAD
WDR19	Q8NEZ3	p.Val1160Ile	rs1355839194	missense variant	-	NC_000004.12:g.39270095G>A	gnomAD
WDR19	Q8NEZ3	p.Lys1161Arg	rs772640672	missense variant	-	NC_000004.12:g.39270099A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Lys1161Thr	rs772640672	missense variant	-	NC_000004.12:g.39270099A>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile1162Asn	rs1429836760	missense variant	-	NC_000004.12:g.39272981T>A	TOPMed
WDR19	Q8NEZ3	p.Val1164Ile	rs1225086394	missense variant	-	NC_000004.12:g.39272986G>A	gnomAD
WDR19	Q8NEZ3	p.Val1164Asp	rs748465735	missense variant	-	NC_000004.12:g.39272987T>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asn1166MetPheSerTerUnk	COSM1429610	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39272989A>-	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Gly1167Val	rs767154492	missense variant	-	NC_000004.12:g.39272996G>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp1168Asn	rs750250561	missense variant	-	NC_000004.12:g.39272998G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His1169Tyr	rs770967175	missense variant	-	NC_000004.12:g.39273001C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.His1169Leu	rs1177402178	missense variant	-	NC_000004.12:g.39273002A>T	TOPMed
WDR19	Q8NEZ3	p.His1169Asp	COSM733516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39273001C>G	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Met1170Leu	rs371474583	missense variant	-	NC_000004.12:g.39273004A>C	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met1170Thr	rs557889533	missense variant	-	NC_000004.12:g.39273005T>C	1000Genomes,gnomAD
WDR19	Q8NEZ3	p.Met1170Val	rs371474583	missense variant	-	NC_000004.12:g.39273004A>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met1170Arg	rs557889533	missense variant	-	NC_000004.12:g.39273005T>G	1000Genomes,gnomAD
WDR19	Q8NEZ3	p.Met1170Leu	rs371474583	missense variant	-	NC_000004.12:g.39273004A>T	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Lys1171Asn	rs765379022	missense variant	-	NC_000004.12:g.39273009A>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly1172Glu	rs774149305	missense variant	-	NC_000004.12:g.39273011G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg1174Leu	rs372719724	missense variant	-	NC_000004.12:g.39273017G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1174His	rs372719724	missense variant	-	NC_000004.12:g.39273017G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1174Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39273016C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Arg1174Cys	rs755139948	missense variant	-	NC_000004.12:g.39273016C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met1175Leu	rs765836749	missense variant	-	NC_000004.12:g.39273019A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile1177Val	rs1321829073	missense variant	-	NC_000004.12:g.39273025A>G	TOPMed
WDR19	Q8NEZ3	p.Arg1178Gln	rs79436363	missense variant	-	NC_000004.12:g.39273029G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1178Trp	rs754690461	missense variant	-	NC_000004.12:g.39273028C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1178Gln	RCV000433622	missense variant	-	NC_000004.12:g.39273029G>A	ClinVar
WDR19	Q8NEZ3	p.Val1179Gly	rs752739796	missense variant	-	NC_000004.12:g.39273032T>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala1180Val	rs1284947759	missense variant	-	NC_000004.12:g.39273035C>T	gnomAD
WDR19	Q8NEZ3	p.Asn1181Ser	rs747799013	missense variant	-	NC_000004.12:g.39273038A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Asn1182Ser	rs1277873234	missense variant	-	NC_000004.12:g.39273041A>G	TOPMed
WDR19	Q8NEZ3	p.Ile1183Phe	rs1286801775	missense variant	-	NC_000004.12:g.39273043A>T	gnomAD
WDR19	Q8NEZ3	p.Lys1185Gln	rs998142201	missense variant	-	NC_000004.12:g.39273049A>C	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro1187Ser	rs1208726588	missense variant	-	NC_000004.12:g.39273055C>T	gnomAD
WDR19	Q8NEZ3	p.Pro1187Leu	rs1245638655	missense variant	-	NC_000004.12:g.39273056C>T	gnomAD
WDR19	Q8NEZ3	p.His1189Tyr	rs778261943	missense variant	-	NC_000004.12:g.39273061C>T	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.His1189Tyr	RCV000512921	missense variant	-	NC_000004.12:g.39273061C>T	ClinVar
WDR19	Q8NEZ3	p.His1189Asp	rs778261943	missense variant	-	NC_000004.12:g.39273061C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Pro1192Ser	rs1186507770	missense variant	-	NC_000004.12:g.39274816C>T	TOPMed
WDR19	Q8NEZ3	p.Ile1193Met	rs368286694	missense variant	-	NC_000004.12:g.39274821C>G	ESP,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Thr1195Met	rs370847858	missense variant	-	NC_000004.12:g.39274826C>T	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser1196Pro	rs764810190	missense variant	-	NC_000004.12:g.39274828T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser1196Ala	rs764810190	missense variant	-	NC_000004.12:g.39274828T>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser1196Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39274828T>A	NCI-TCGA
WDR19	Q8NEZ3	p.Ile1199Thr	rs752447818	missense variant	-	NC_000004.12:g.39274838T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu1200Lys	rs1401677853	missense variant	-	NC_000004.12:g.39274840G>A	gnomAD
WDR19	Q8NEZ3	p.Glu1200ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.39274839_39274842TGAG>-	NCI-TCGA
WDR19	Q8NEZ3	p.Cys1201Tyr	rs886059402	missense variant	-	NC_000004.12:g.39274844G>A	-
WDR19	Q8NEZ3	p.Cys1201Tyr	RCV000328302	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39274844G>A	ClinVar
WDR19	Q8NEZ3	p.Cys1201Tyr	RCV000275573	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39274844G>A	ClinVar
WDR19	Q8NEZ3	p.Arg1203Gly	rs1394483779	missense variant	-	NC_000004.12:g.39274849A>G	gnomAD
WDR19	Q8NEZ3	p.Arg1203Met	COSM3825817	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39274850G>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Ala1204Thr	rs758077216	missense variant	-	NC_000004.12:g.39274852G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gly1205Asp	rs1487657507	missense variant	-	NC_000004.12:g.39274856G>A	TOPMed
WDR19	Q8NEZ3	p.Ala1210Thr	rs1286854859	missense variant	-	NC_000004.12:g.39274870G>A	gnomAD
WDR19	Q8NEZ3	p.Phe1211Leu	rs757721845	missense variant	-	NC_000004.12:g.39274875C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ser1212Gly	rs866537330	missense variant	-	NC_000004.12:g.39274876A>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala1214Thr	rs1206705962	missense variant	-	NC_000004.12:g.39274882G>A	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Met1216Val	rs571331592	missense variant	-	NC_000004.12:g.39274888A>G	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1223Cys	rs201597047	missense variant	-	NC_000004.12:g.39274909C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1223His	rs115335610	missense variant	-	NC_000004.12:g.39274910G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1223Pro	rs115335610	missense variant	-	NC_000004.12:g.39274910G>C	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1223Cys	RCV000488404	missense variant	-	NC_000004.12:g.39274909C>T	ClinVar
WDR19	Q8NEZ3	p.Arg1223Cys	RCV000385239	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39274909C>T	ClinVar
WDR19	Q8NEZ3	p.Arg1223Cys	RCV000288576	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39274909C>T	ClinVar
WDR19	Q8NEZ3	p.Ile1226Thr	rs1198130831	missense variant	-	NC_000004.12:g.39274919T>C	gnomAD
WDR19	Q8NEZ3	p.Ile1226Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39274920A>G	NCI-TCGA
WDR19	Q8NEZ3	p.Asp1227Glu	rs573727744	missense variant	-	NC_000004.12:g.39274923T>G	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Asp1227Gly	rs749540399	missense variant	-	NC_000004.12:g.39274922A>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ala1228Gly	rs201051877	missense variant	-	NC_000004.12:g.39274925C>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Lys1233Arg	rs1182226412	missense variant	-	NC_000004.12:g.39274940A>G	gnomAD
WDR19	Q8NEZ3	p.Lys1233Asn	rs1429364265	missense variant	-	NC_000004.12:g.39274941G>T	gnomAD
WDR19	Q8NEZ3	p.Ile1234Met	rs1306554397	missense variant	-	NC_000004.12:g.39274944C>G	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Glu1235Lys	rs587777351	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39274945G>A	UniProt,dbSNP
WDR19	Q8NEZ3	p.Glu1235Lys	VAR_073679	missense variant	Senior-Loken syndrome 8 (SLSN8)	NC_000004.12:g.39274945G>A	UniProt
WDR19	Q8NEZ3	p.Glu1235Lys	rs587777351	missense variant	Nephronophthisis 13 (nphp13)	NC_000004.12:g.39274945G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu1235Lys	RCV000115013	missense variant	Nephronophthisis 13 (NPHP13)	NC_000004.12:g.39274945G>A	ClinVar
WDR19	Q8NEZ3	p.Glu1235Lys	RCV000788500	missense variant	-	NC_000004.12:g.39274945G>A	ClinVar
WDR19	Q8NEZ3	p.Gly1236Glu	rs141039852	missense variant	-	NC_000004.12:g.39274949G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly1236Ala	rs141039852	missense variant	-	NC_000004.12:g.39274949G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Gly1236Glu	RCV000756918	missense variant	-	NC_000004.12:g.39274949G>A	ClinVar
WDR19	Q8NEZ3	p.Arg1239Gly	rs1301129386	missense variant	-	NC_000004.12:g.39274957A>G	gnomAD
WDR19	Q8NEZ3	p.Pro1241Thr	rs1209319543	missense variant	-	NC_000004.12:g.39277024C>A	gnomAD
WDR19	Q8NEZ3	p.Pro1241Leu	rs576113399	missense variant	-	NC_000004.12:g.39277025C>T	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Pro1241Ser	rs1209319543	missense variant	-	NC_000004.12:g.39277024C>T	gnomAD
WDR19	Q8NEZ3	p.Pro1241Leu	RCV000345648	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39277025C>T	ClinVar
WDR19	Q8NEZ3	p.Pro1241Leu	RCV000379247	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39277025C>T	ClinVar
WDR19	Q8NEZ3	p.Asp1242Asn	rs759579016	missense variant	-	NC_000004.12:g.39277027G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ile1243Thr	rs769789803	missense variant	-	NC_000004.12:g.39277031T>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ser1244Phe	rs775155937	missense variant	-	NC_000004.12:g.39277034C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu1245Gly	rs561174402	missense variant	-	NC_000004.12:g.39277037A>G	1000Genomes,ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu1245Lys	COSM1310041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39277036G>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Thr1250Met	rs529745222	missense variant	-	NC_000004.12:g.39277052C>T	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Cys1253Tyr	rs750716949	missense variant	-	NC_000004.12:g.39277061G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Cys1253Arg	rs1432213575	missense variant	-	NC_000004.12:g.39277060T>C	gnomAD
WDR19	Q8NEZ3	p.Cys1253Tyr	RCV000754958	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39277061G>A	ClinVar
WDR19	Q8NEZ3	p.Pro1254Ser	rs756625864	missense variant	-	NC_000004.12:g.39277063C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Leu1259Pro	rs1267378402	missense variant	-	NC_000004.12:g.39277079T>C	gnomAD
WDR19	Q8NEZ3	p.Leu1259Ile	RCV000339966	missense variant	Cranioectodermal dysplasia	NC_000004.12:g.39277078C>A	ClinVar
WDR19	Q8NEZ3	p.Leu1259Ile	RCV000287322	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39277078C>A	ClinVar
WDR19	Q8NEZ3	p.Leu1259Ile	rs886059403	missense variant	-	NC_000004.12:g.39277078C>A	gnomAD
WDR19	Q8NEZ3	p.Leu1260Ile	rs778837060	missense variant	-	NC_000004.12:g.39277081C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu1262Lys	rs1553919125	missense variant	-	NC_000004.12:g.39277087G>A	-
WDR19	Q8NEZ3	p.Glu1262Asp	rs748425573	missense variant	-	NC_000004.12:g.39277089G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu1262Lys	RCV000538980	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39277087G>A	ClinVar
WDR19	Q8NEZ3	p.Cys1263Arg	rs1290087992	missense variant	-	NC_000004.12:g.39277090T>C	gnomAD
WDR19	Q8NEZ3	p.Glu1264Lys	rs1394076121	missense variant	-	NC_000004.12:g.39277093G>A	TOPMed
WDR19	Q8NEZ3	p.Leu1266Phe	COSM1055214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39277099C>T	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Cys1267Tyr	rs745603321	missense variant	-	NC_000004.12:g.39277103G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys1267Ser	rs745603321	missense variant	-	NC_000004.12:g.39277103G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys1267Tyr	RCV000516083	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39277103G>A	ClinVar
WDR19	Q8NEZ3	p.Pro1268Arg	rs756519107	missense variant	-	NC_000004.12:g.39277106C>G	ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys1270Ser	rs1035768119	missense variant	-	NC_000004.12:g.39277111T>A	TOPMed
WDR19	Q8NEZ3	p.Cys1270Ser	RCV000653251	missense variant	Asphyxiating thoracic dystrophy 5 (SRTD5)	NC_000004.12:g.39277111T>A	ClinVar
WDR19	Q8NEZ3	p.Pro1275Ala	rs200670161	missense variant	-	NC_000004.12:g.39277126C>G	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Cys1277Tyr	rs1052778147	missense variant	-	NC_000004.12:g.39277133G>A	TOPMed
WDR19	Q8NEZ3	p.Ile1278Thr	rs1250445688	missense variant	-	NC_000004.12:g.39277136T>C	gnomAD
WDR19	Q8NEZ3	p.Arg1282Gln	rs747668085	missense variant	-	NC_000004.12:g.39278135G>A	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1282Ter	rs1167254374	stop gained	-	NC_000004.12:g.39278134C>T	TOPMed
WDR19	Q8NEZ3	p.His1283Tyr	rs1187043579	missense variant	-	NC_000004.12:g.39278137C>T	TOPMed
WDR19	Q8NEZ3	p.Met1284Thr	rs1438498947	missense variant	-	NC_000004.12:g.39278141T>C	gnomAD
WDR19	Q8NEZ3	p.Met1284Ile	rs1275323488	missense variant	-	NC_000004.12:g.39278142G>A	gnomAD
WDR19	Q8NEZ3	p.Asp1287Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39278149G>A	NCI-TCGA
WDR19	Q8NEZ3	p.Thr1290Met	rs1301360733	missense variant	-	NC_000004.12:g.39278159C>T	TOPMed,gnomAD
WDR19	Q8NEZ3	p.Thr1290Ter	RCV000754962	frameshift	Jeune thoracic dystrophy (ATD1)	NC_000004.12:g.39278158_39278161del	ClinVar
WDR19	Q8NEZ3	p.Val1291Ala	rs373809829	missense variant	-	NC_000004.12:g.39278162T>C	ESP,ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys1292Arg	rs766752510	missense variant	-	NC_000004.12:g.39278164T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Cys1292Phe	rs796543493	missense variant	-	NC_000004.12:g.39278165G>T	gnomAD
WDR19	Q8NEZ3	p.Pro1293Arg	rs1207834447	missense variant	-	NC_000004.12:g.39278168C>G	TOPMed
WDR19	Q8NEZ3	p.His1294Leu	rs1224275153	missense variant	-	NC_000004.12:g.39278171A>T	gnomAD
WDR19	Q8NEZ3	p.Cys1295Tyr	rs1477993853	missense variant	-	NC_000004.12:g.39278174G>A	gnomAD
WDR19	Q8NEZ3	p.Phe1297Leu	rs776822526	missense variant	-	NC_000004.12:g.39278179T>C	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Phe1297Leu	rs760094205	missense variant	-	NC_000004.12:g.39278181C>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Pro1298Ser	rs765606810	missense variant	-	NC_000004.12:g.39278182C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Pro1298Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.39278182C>A	NCI-TCGA
WDR19	Q8NEZ3	p.Glu1303Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.39278197G>T	NCI-TCGA
WDR19	Q8NEZ3	p.Lys1305Asn	rs764241905	missense variant	-	NC_000004.12:g.39278205G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Ile1306Val	rs1438702805	missense variant	-	NC_000004.12:g.39278206A>G	gnomAD
WDR19	Q8NEZ3	p.Ile1306Ser	rs1295587311	missense variant	-	NC_000004.12:g.39278207T>G	TOPMed
WDR19	Q8NEZ3	p.Met1307Thr	rs751618732	missense variant	-	NC_000004.12:g.39278541T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Thr1310Asn	rs1261611717	missense variant	-	NC_000004.12:g.39278550C>A	TOPMed
WDR19	Q8NEZ3	p.Thr1313Ile	rs1236660799	missense variant	-	NC_000004.12:g.39278559C>T	gnomAD
WDR19	Q8NEZ3	p.Thr1313Pro	rs1187870446	missense variant	-	NC_000004.12:g.39278558A>C	gnomAD
WDR19	Q8NEZ3	p.Thr1313Ala	rs1187870446	missense variant	-	NC_000004.12:g.39278558A>G	gnomAD
WDR19	Q8NEZ3	p.Cys1314Ter	COSM1429611	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.39278563T>A	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Met1316Thr	rs1412544408	missense variant	-	NC_000004.12:g.39278568T>C	gnomAD
WDR19	Q8NEZ3	p.Glu1319Gln	COSM3775828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.39278576G>C	NCI-TCGA Cosmic
WDR19	Q8NEZ3	p.Asn1322His	rs1158060361	missense variant	-	NC_000004.12:g.39278585A>C	gnomAD
WDR19	Q8NEZ3	p.Ala1323Thr	rs563367049	missense variant	-	NC_000004.12:g.39278588G>A	1000Genomes,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Ala1324Thr	rs1243272786	missense variant	-	NC_000004.12:g.39278591G>A	gnomAD
WDR19	Q8NEZ3	p.Lys1328Asn	rs754767677	missense variant	-	NC_000004.12:g.39278605G>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Lys1328Arg	rs1335042220	missense variant	-	NC_000004.12:g.39278604A>G	gnomAD
WDR19	Q8NEZ3	p.Asp1331Glu	rs778745769	missense variant	-	NC_000004.12:g.39278614C>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Cys1332Arg	rs752597919	missense variant	-	NC_000004.12:g.39278615T>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Gln1334Pro	rs777270395	missense variant	-	NC_000004.12:g.39278622A>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Tyr1335Cys	rs746465783	missense variant	-	NC_000004.12:g.39278625A>G	ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Leu1336Val	rs1290363348	missense variant	-	NC_000004.12:g.39278627C>G	TOPMed
WDR19	Q8NEZ3	p.Arg1337Gln	rs745506402	missense variant	-	NC_000004.12:g.39278631G>A	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg1337Pro	rs745506402	missense variant	-	NC_000004.12:g.39278631G>C	ExAC,gnomAD
WDR19	Q8NEZ3	p.Arg1337Gly	rs367721770	missense variant	-	NC_000004.12:g.39278630C>G	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Arg1337Ter	rs367721770	stop gained	-	NC_000004.12:g.39278630C>T	ESP,ExAC,TOPMed,gnomAD
WDR19	Q8NEZ3	p.Thr1338Met	rs775879073	missense variant	-	NC_000004.12:g.39278634C>T	ExAC,gnomAD
WDR19	Q8NEZ3	p.Glu1341Lys	rs774982272	missense variant	-	NC_000004.12:g.39278642G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg3Ter	rs750698861	stop gained	-	NC_000010.11:g.68572345C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Arg3Gln	rs763123299	missense variant	-	NC_000010.11:g.68572346G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg3Pro	rs763123299	missense variant	-	NC_000010.11:g.68572346G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Ser4Thr	rs1297376295	missense variant	-	NC_000010.11:g.68572348T>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Ser4Phe	rs767244144	missense variant	-	NC_000010.11:g.68572349C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg5Cys	rs140156594	missense variant	-	NC_000010.11:g.68572351C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg5His	rs777837034	missense variant	-	NC_000010.11:g.68572352G>A	ExAC,gnomAD
TET1	Q8NFU7	p.His6Tyr	rs753709385	missense variant	-	NC_000010.11:g.68572354C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala7Val	rs757120908	missense variant	-	NC_000010.11:g.68572358C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Arg8Lys	rs778536892	missense variant	-	NC_000010.11:g.68572361G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg8Lys	rs778536892	missense variant	-	NC_000010.11:g.68572361G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro9Thr	rs1397274217	missense variant	-	NC_000010.11:g.68572363C>A	TOPMed
TET1	Q8NFU7	p.Leu12Ser	COSM3985701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572373T>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val13Ala	rs377381575	missense variant	-	NC_000010.11:g.68572376T>C	gnomAD
TET1	Q8NFU7	p.Val13Leu	rs745543859	missense variant	-	NC_000010.11:g.68572375G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Val13Ile	rs745543859	missense variant	-	NC_000010.11:g.68572375G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Lys15Arg	rs779722738	missense variant	-	NC_000010.11:g.68572382A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Glu16Asp	rs746452533	missense variant	-	NC_000010.11:g.68572386A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Asp17Gly	rs1432668702	missense variant	-	NC_000010.11:g.68572388A>G	gnomAD
TET1	Q8NFU7	p.Asn19Lys	rs77014514	missense variant	-	NC_000010.11:g.68572395C>A	ExAC
TET1	Q8NFU7	p.Lys20Glu	rs1172120339	missense variant	-	NC_000010.11:g.68572396A>G	TOPMed
TET1	Q8NFU7	p.Lys22ArgPheSerTerUnkUnk	COSM1348704	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68572396A>-	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys23GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68572395_68572396insA	NCI-TCGA
TET1	Q8NFU7	p.Lys23Ile	rs371354350	missense variant	-	NC_000010.11:g.68572406A>T	ESP,TOPMed
TET1	Q8NFU7	p.Asn24Ser	rs1365415380	missense variant	-	NC_000010.11:g.68572409A>G	gnomAD
TET1	Q8NFU7	p.Gln26Leu	rs1158014559	missense variant	-	NC_000010.11:g.68572415A>T	gnomAD
TET1	Q8NFU7	p.Arg28Gln	rs773402594	missense variant	-	NC_000010.11:g.68572421G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg28Gln	rs773402594	missense variant	-	NC_000010.11:g.68572421G>A	NCI-TCGA
TET1	Q8NFU7	p.Thr31Ile	rs766525413	missense variant	-	NC_000010.11:g.68572430C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys32Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572434G>C	NCI-TCGA
TET1	Q8NFU7	p.Lys32Arg	rs1384511917	missense variant	-	NC_000010.11:g.68572433A>G	gnomAD
TET1	Q8NFU7	p.Gly33Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68572435G>T	NCI-TCGA
TET1	Q8NFU7	p.Ala34Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572439C>A	NCI-TCGA
TET1	Q8NFU7	p.Ala34Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572438G>C	NCI-TCGA
TET1	Q8NFU7	p.Ala34Thr	rs371024257	missense variant	-	NC_000010.11:g.68572438G>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala34Val	rs759674654	missense variant	-	NC_000010.11:g.68572439C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn35Asp	rs565181995	missense variant	-	NC_000010.11:g.68572441A>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys36Asn	rs1209614187	missense variant	-	NC_000010.11:g.68572446A>C	TOPMed
TET1	Q8NFU7	p.Lys36Glu	rs1273080391	missense variant	-	NC_000010.11:g.68572444A>G	TOPMed
TET1	Q8NFU7	p.Asn37Tyr	rs1482188643	missense variant	-	NC_000010.11:g.68572447A>T	gnomAD
TET1	Q8NFU7	p.Ala39Val	rs1351945968	missense variant	-	NC_000010.11:g.68572454C>T	gnomAD
TET1	Q8NFU7	p.Ala39Ser	rs1283019815	missense variant	-	NC_000010.11:g.68572453G>T	TOPMed
TET1	Q8NFU7	p.Ser40Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68572457C>G	NCI-TCGA
TET1	Q8NFU7	p.Lys42Asn	rs1224328336	missense variant	-	NC_000010.11:g.68572464G>T	gnomAD
TET1	Q8NFU7	p.Thr43Ser	rs1266192390	missense variant	-	NC_000010.11:g.68572466C>G	gnomAD
TET1	Q8NFU7	p.Ser45Asn	rs1488290365	missense variant	-	NC_000010.11:g.68572472G>A	gnomAD
TET1	Q8NFU7	p.Pro46Ala	rs1240068217	missense variant	-	NC_000010.11:g.68572474C>G	gnomAD
TET1	Q8NFU7	p.Pro46Leu	rs1183361622	missense variant	-	NC_000010.11:g.68572475C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro46Arg	rs1183361622	missense variant	-	NC_000010.11:g.68572475C>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Gly47Glu	rs757099305	missense variant	-	NC_000010.11:g.68572478G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Lys48Gln	COSM919742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572480A>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gln51Leu	rs182153116	missense variant	-	NC_000010.11:g.68572490A>T	1000Genomes
TET1	Q8NFU7	p.Glu55Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68572501G>T	NCI-TCGA
TET1	Q8NFU7	p.Asp57Glu	rs368625091	missense variant	-	NC_000010.11:g.68572509T>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val58Phe	COSM685571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572510G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys59Arg	rs114779544	missense variant	-	NC_000010.11:g.68572514A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr62AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68572515_68572516insA	NCI-TCGA
TET1	Q8NFU7	p.Thr62GlnPheSerTerUnkUnk	COSM4733137	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68572516A>-	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro64Ser	rs757874803	missense variant	-	NC_000010.11:g.68572528C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro64Thr	rs757874803	missense variant	-	NC_000010.11:g.68572528C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Lys65Glu	rs758126390	missense variant	-	NC_000010.11:g.68572531A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Lys65Ter	rs758126390	stop gained	-	NC_000010.11:g.68572531A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Pro66Arg	rs1456096019	missense variant	-	NC_000010.11:g.68572535C>G	gnomAD
TET1	Q8NFU7	p.Pro66Leu	COSM3439882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572535C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro67His	rs754556136	missense variant	-	NC_000010.11:g.68572538C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro67Ser	rs761167266	missense variant	-	NC_000010.11:g.68572537C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro67Ala	rs761167266	missense variant	-	NC_000010.11:g.68572537C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val68Met	rs780528931	missense variant	-	NC_000010.11:g.68572540G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val68Ala	rs748713481	missense variant	-	NC_000010.11:g.68572541T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Val70Ile	rs770143538	missense variant	-	NC_000010.11:g.68572546G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg71Gly	rs773573298	missense variant	-	NC_000010.11:g.68572549A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Leu73Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572555C>A	NCI-TCGA
TET1	Q8NFU7	p.Leu73Arg	rs771275404	missense variant	-	NC_000010.11:g.68572556T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu73Phe	rs138684329	missense variant	-	NC_000010.11:g.68572555C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr75Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572562C>G	NCI-TCGA
TET1	Q8NFU7	p.Thr75Ile	rs774608784	missense variant	-	NC_000010.11:g.68572562C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg76Lys	rs767663146	missense variant	-	NC_000010.11:g.68572565G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg76Gly	rs759719530	missense variant	-	NC_000010.11:g.68572564A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gly78Glu	rs1484377336	missense variant	-	NC_000010.11:g.68572571G>A	TOPMed
TET1	Q8NFU7	p.Arg81His	rs761821309	missense variant	-	NC_000010.11:g.68572580G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg81His	rs761821309	missense variant	-	NC_000010.11:g.68572580G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg81Leu	rs761821309	missense variant	-	NC_000010.11:g.68572580G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg81Pro	rs761821309	missense variant	-	NC_000010.11:g.68572580G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg81Cys	rs775380660	missense variant	-	NC_000010.11:g.68572579C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Met82Ile	rs1225759885	missense variant	-	NC_000010.11:g.68572584G>C	TOPMed
TET1	Q8NFU7	p.Met82Val	rs750381036	missense variant	-	NC_000010.11:g.68572582A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asp85Asn	rs368770710	missense variant	-	NC_000010.11:g.68572591G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg86Met	rs766246075	missense variant	-	NC_000010.11:g.68572595G>T	NCI-TCGA
TET1	Q8NFU7	p.Arg86Met	rs766246075	missense variant	-	NC_000010.11:g.68572595G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Arg86Lys	rs766246075	missense variant	-	NC_000010.11:g.68572595G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Thr87Ser	rs140677396	missense variant	-	NC_000010.11:g.68572598C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu90Val	rs754538807	missense variant	-	NC_000010.11:g.68572606C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Leu90Arg	rs1450775662	missense variant	-	NC_000010.11:g.68572607T>G	gnomAD
TET1	Q8NFU7	p.Gln92Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572612C>G	NCI-TCGA
TET1	Q8NFU7	p.Asn93Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572616A>G	NCI-TCGA
TET1	Q8NFU7	p.Asn93Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572617C>G	NCI-TCGA
TET1	Q8NFU7	p.Pro94Ala	rs1303982196	missense variant	-	NC_000010.11:g.68572618C>G	gnomAD
TET1	Q8NFU7	p.Glu95Gly	rs1357417547	missense variant	-	NC_000010.11:g.68572622A>G	TOPMed
TET1	Q8NFU7	p.Glu95Ter	COSM4944986	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68572621G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr98Ile	rs780768837	missense variant	-	NC_000010.11:g.68572631C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Asn100His	rs1448657807	missense variant	-	NC_000010.11:g.68572636A>C	TOPMed
TET1	Q8NFU7	p.Asn100Lys	rs1318888341	missense variant	-	NC_000010.11:g.68572638T>G	gnomAD
TET1	Q8NFU7	p.Asn100Ser	rs755648837	missense variant	-	NC_000010.11:g.68572637A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly101Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572640G>T	NCI-TCGA
TET1	Q8NFU7	p.Phe102Cys	rs1156842659	missense variant	-	NC_000010.11:g.68572643T>G	TOPMed
TET1	Q8NFU7	p.Met104Val	rs149899928	missense variant	-	NC_000010.11:g.68572648A>G	ESP,gnomAD
TET1	Q8NFU7	p.Ala105Val	rs200477577	missense variant	-	NC_000010.11:g.68572652C>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu106Val	rs749777455	missense variant	-	NC_000010.11:g.68572654C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg107Gln	rs1419371452	missense variant	-	NC_000010.11:g.68572658G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg107Ter	rs771320434	stop gained	-	NC_000010.11:g.68572657C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Arg107Gln	rs1419371452	missense variant	-	NC_000010.11:g.68572658G>A	TOPMed
TET1	Q8NFU7	p.Arg107Ter	rs771320434	stop gained	-	NC_000010.11:g.68572657C>T	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser108Arg	rs372546848	missense variant	-	NC_000010.11:g.68572662C>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser108Gly	rs779205050	missense variant	-	NC_000010.11:g.68572660A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Leu111Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572669C>A	NCI-TCGA
TET1	Q8NFU7	p.Ser112Thr	rs1477305146	missense variant	-	NC_000010.11:g.68572673G>C	gnomAD
TET1	Q8NFU7	p.Arg114Pro	rs772124361	missense variant	-	NC_000010.11:g.68572679G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg114Gln	rs772124361	missense variant	-	NC_000010.11:g.68572679G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu115Phe	rs1426634332	missense variant	-	NC_000010.11:g.68572681C>T	gnomAD
TET1	Q8NFU7	p.Ser116Phe	COSM3439883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572685C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro118Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572691C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro118Thr	rs768767331	missense variant	-	NC_000010.11:g.68572690C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro119Leu	rs1464804442	missense variant	-	NC_000010.11:g.68572694C>T	gnomAD
TET1	Q8NFU7	p.Pro119Thr	rs568924164	missense variant	-	NC_000010.11:g.68572693C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro119Ser	rs568924164	missense variant	-	NC_000010.11:g.68572693C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Leu120Arg	rs569120485	missense variant	-	NC_000010.11:g.68572697T>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val122Ala	rs1356016602	missense variant	-	NC_000010.11:g.68572703T>C	NCI-TCGA
TET1	Q8NFU7	p.Val122Ile	rs751344073	missense variant	-	NC_000010.11:g.68572702G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val122Ile	rs751344073	missense variant	-	NC_000010.11:g.68572702G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val122Ala	rs1356016602	missense variant	-	NC_000010.11:g.68572703T>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Ala123Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572706C>G	NCI-TCGA
TET1	Q8NFU7	p.Lys124Arg	rs1359973500	missense variant	-	NC_000010.11:g.68572709A>G	TOPMed
TET1	Q8NFU7	p.Lys126Arg	rs1310382095	missense variant	-	NC_000010.11:g.68572715A>G	gnomAD
TET1	Q8NFU7	p.Lys126Gln	rs759234005	missense variant	-	NC_000010.11:g.68572714A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys127Asn	rs767144503	missense variant	-	NC_000010.11:g.68572719G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Val128Ile	rs142008363	missense variant	-	NC_000010.11:g.68572720G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val128Leu	rs142008363	missense variant	-	NC_000010.11:g.68572720G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val128Phe	rs142008363	missense variant	-	NC_000010.11:g.68572720G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro129Leu	rs1487867489	missense variant	-	NC_000010.11:g.68572724C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Ser131Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572730C>A	NCI-TCGA
TET1	Q8NFU7	p.Ser131Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572730C>G	NCI-TCGA
TET1	Q8NFU7	p.Lys132Glu	rs551824419	missense variant	-	NC_000010.11:g.68572732A>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly133Val	rs1478029429	missense variant	-	NC_000010.11:g.68572736G>T	gnomAD
TET1	Q8NFU7	p.Gly133Ser	rs1427355395	missense variant	-	NC_000010.11:g.68572735G>A	TOPMed
TET1	Q8NFU7	p.Glu135Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68572741G>T	NCI-TCGA
TET1	Q8NFU7	p.Glu135Lys	rs779260183	missense variant	-	NC_000010.11:g.68572741G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Gln137AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68572741_68572742insA	NCI-TCGA
TET1	Q8NFU7	p.His138Arg	rs1425019250	missense variant	-	NC_000010.11:g.68572751A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Asp139Asn	rs149031299	missense variant	-	NC_000010.11:g.68572753G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Cys140Tyr	rs138665678	missense variant	-	NC_000010.11:g.68572757G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Cys140Arg	rs143052198	missense variant	-	NC_000010.11:g.68572756T>C	ESP,TOPMed,gnomAD
TET1	Q8NFU7	p.Asp141Val	rs780197856	missense variant	-	NC_000010.11:g.68572760A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Tyr142Cys	rs1437212521	missense variant	-	NC_000010.11:g.68572763A>G	gnomAD
TET1	Q8NFU7	p.Lys143Glu	rs1212018278	missense variant	-	NC_000010.11:g.68572765A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Ile144Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572768A>C	NCI-TCGA
TET1	Q8NFU7	p.Ile144Arg	rs747232190	missense variant	-	NC_000010.11:g.68572769T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile144Thr	rs747232190	missense variant	-	NC_000010.11:g.68572769T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile144Met	rs768888866	missense variant	-	NC_000010.11:g.68572770A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ile144Val	COSM4930994	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572768A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu145Phe	rs141395629	missense variant	-	NC_000010.11:g.68572771C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu145Ile	rs141395629	missense variant	-	NC_000010.11:g.68572771C>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu145Pro	rs762999090	missense variant	-	NC_000010.11:g.68572772T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Pro146Ser	rs774343833	missense variant	-	NC_000010.11:g.68572774C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Pro146Leu	rs1291504914	missense variant	-	NC_000010.11:g.68572775C>T	gnomAD
TET1	Q8NFU7	p.Pro146Ala	rs774343833	missense variant	-	NC_000010.11:g.68572774C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gly149Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572783G>A	NCI-TCGA
TET1	Q8NFU7	p.Lys151Arg	COSM4925893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572790A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.His152Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572792C>G	NCI-TCGA
TET1	Q8NFU7	p.His152Arg	rs1216240596	missense variant	-	NC_000010.11:g.68572793A>G	TOPMed
TET1	Q8NFU7	p.Ser153Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68572796C>G	NCI-TCGA
TET1	Q8NFU7	p.Glu154Gly	rs1365923011	missense variant	-	NC_000010.11:g.68572799A>G	TOPMed
TET1	Q8NFU7	p.Ser157Leu	rs185830524	missense variant	-	NC_000010.11:g.68572808C>T	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser157Leu	rs185830524	missense variant	-	NC_000010.11:g.68572808C>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val158Leu	rs753283699	missense variant	-	NC_000010.11:g.68572810G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val158Phe	rs753283699	missense variant	-	NC_000010.11:g.68572810G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro159Leu	rs1381552311	missense variant	-	NC_000010.11:g.68572814C>T	gnomAD
TET1	Q8NFU7	p.Met160Val	rs1293710221	missense variant	-	NC_000010.11:g.68572816A>G	TOPMed
TET1	Q8NFU7	p.Met160Ile	rs1157205183	missense variant	-	NC_000010.11:g.68572818G>T	gnomAD
TET1	Q8NFU7	p.Met160Lys	rs963563529	missense variant	-	NC_000010.11:g.68572817T>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Asp162Gly	rs10823229	missense variant	-	NC_000010.11:g.68572823A>G	UniProt,dbSNP
TET1	Q8NFU7	p.Asp162Gly	VAR_027734	missense variant	-	NC_000010.11:g.68572823A>G	UniProt
TET1	Q8NFU7	p.Asp162Gly	rs10823229	missense variant	-	NC_000010.11:g.68572823A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr163Ser	rs765798398	missense variant	-	NC_000010.11:g.68572825A>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr163Ala	rs765798398	missense variant	-	NC_000010.11:g.68572825A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln164Lys	rs1449177074	missense variant	-	NC_000010.11:g.68572828C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Gln164His	rs758739848	missense variant	-	NC_000010.11:g.68572830A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Gln164Glu	rs1449177074	missense variant	-	NC_000010.11:g.68572828C>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Val165Phe	rs1394939435	missense variant	-	NC_000010.11:g.68572831G>T	TOPMed
TET1	Q8NFU7	p.Val165Leu	COSM4393027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572831G>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu166Phe	rs115711488	missense variant	-	NC_000010.11:g.68572834C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro167Arg	rs1237626100	missense variant	-	NC_000010.11:g.68572838C>G	gnomAD
TET1	Q8NFU7	p.Asp168His	COSM4852762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572840G>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile169Thr	rs755192249	missense variant	-	NC_000010.11:g.68572844T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile169Val	rs747218316	missense variant	-	NC_000010.11:g.68572843A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Glu170Asp	rs781424040	missense variant	-	NC_000010.11:g.68572848G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu172Pro	rs748302509	missense variant	-	NC_000010.11:g.68572853T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Leu172Val	rs1176805515	missense variant	-	NC_000010.11:g.68572852C>G	TOPMed
TET1	Q8NFU7	p.Ile173Thr	rs774201705	missense variant	-	NC_000010.11:g.68572856T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln176Arg	COSM3397219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572865A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn177Ser	rs1205874505	missense variant	-	NC_000010.11:g.68572868A>G	TOPMed
TET1	Q8NFU7	p.Asn177Thr	COSM919748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572868A>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro178Thr	rs556646745	missense variant	-	NC_000010.11:g.68572870C>A	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Pro178Leu	rs1457729740	missense variant	-	NC_000010.11:g.68572871C>T	gnomAD
TET1	Q8NFU7	p.Pro178Leu	rs1457729740	missense variant	-	NC_000010.11:g.68572871C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser179Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572874C>T	NCI-TCGA
TET1	Q8NFU7	p.Ser179Pro	rs771790766	missense variant	-	NC_000010.11:g.68572873T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Leu180Val	rs775310665	missense variant	-	NC_000010.11:g.68572876T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly183Ser	rs1473362793	missense variant	-	NC_000010.11:g.68572885G>A	gnomAD
TET1	Q8NFU7	p.Ser185Gly	rs1279459176	missense variant	-	NC_000010.11:g.68572891A>G	TOPMed
TET1	Q8NFU7	p.Ser185Asn	COSM3807532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572892G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gln186Glu	rs1422648486	missense variant	-	NC_000010.11:g.68572894C>G	gnomAD
TET1	Q8NFU7	p.Glu187Ala	rs1232027922	missense variant	-	NC_000010.11:g.68572898A>C	TOPMed
TET1	Q8NFU7	p.Thr188Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572901C>T	NCI-TCGA
TET1	Q8NFU7	p.Thr188Ala	rs760336927	missense variant	-	NC_000010.11:g.68572900A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr189Ala	rs1467197351	missense variant	-	NC_000010.11:g.68572903A>G	gnomAD
TET1	Q8NFU7	p.Ser193Thr	rs12773594	missense variant	-	NC_000010.11:g.68572915T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser193Thr	rs12773594	missense variant	-	NC_000010.11:g.68572915T>A	UniProt,dbSNP
TET1	Q8NFU7	p.Ser193Thr	VAR_027735	missense variant	-	NC_000010.11:g.68572915T>A	UniProt
TET1	Q8NFU7	p.Ser193Phe	rs1399401605	missense variant	-	NC_000010.11:g.68572916C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Arg195LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68572918_68572919insA	NCI-TCGA
TET1	Q8NFU7	p.Val196Ile	rs761373070	missense variant	-	NC_000010.11:g.68572924G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Ser199Tyr	COSM685570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68572934C>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys200Glu	rs769657894	missense variant	-	NC_000010.11:g.68572936A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys200Met	rs138243324	missense variant	-	NC_000010.11:g.68572937A>T	ESP,ExAC,gnomAD
TET1	Q8NFU7	p.Ile201Phe	rs766665330	missense variant	-	NC_000010.11:g.68572939A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ile201Val	rs766665330	missense variant	-	NC_000010.11:g.68572939A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ile203Val	rs1319571773	missense variant	-	NC_000010.11:g.68572945A>G	gnomAD
TET1	Q8NFU7	p.Pro204Ser	rs755388350	missense variant	-	NC_000010.11:g.68572948C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Pro204Leu	rs781620810	missense variant	-	NC_000010.11:g.68572949C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro204Arg	rs781620810	missense variant	-	NC_000010.11:g.68572949C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr205Ile	rs1315574318	missense variant	-	NC_000010.11:g.68572952C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.His206Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572954C>T	NCI-TCGA
TET1	Q8NFU7	p.Ser207Gly	rs748355482	missense variant	-	NC_000010.11:g.68572957A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly208Ser	rs756299342	missense variant	-	NC_000010.11:g.68572960G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Gly208Asp	rs1443284160	missense variant	-	NC_000010.11:g.68572961G>A	gnomAD
TET1	Q8NFU7	p.Ala211Thr	rs777865630	missense variant	-	NC_000010.11:g.68572969G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Glu212Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572974G>T	NCI-TCGA
TET1	Q8NFU7	p.Ile213Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572976T>C	NCI-TCGA
TET1	Q8NFU7	p.Leu214Phe	rs1478942565	missense variant	-	NC_000010.11:g.68572978C>T	gnomAD
TET1	Q8NFU7	p.Pro217Ser	rs1329994043	missense variant	-	NC_000010.11:g.68572987C>T	gnomAD
TET1	Q8NFU7	p.Glu219Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572995A>T	NCI-TCGA
TET1	Q8NFU7	p.Glu219Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68572993G>A	NCI-TCGA
TET1	Q8NFU7	p.Arg222Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573002C>G	NCI-TCGA
TET1	Q8NFU7	p.Arg222Cys	rs775155506	missense variant	-	NC_000010.11:g.68573002C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg222Pro	rs749194238	missense variant	-	NC_000010.11:g.68573003G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Arg222His	rs749194238	missense variant	-	NC_000010.11:g.68573003G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg222His	rs749194238	missense variant	-	NC_000010.11:g.68573003G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gly224Asp	rs1402829056	missense variant	-	NC_000010.11:g.68573009G>A	gnomAD
TET1	Q8NFU7	p.Gly226Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68573014G>T	NCI-TCGA
TET1	Q8NFU7	p.Gly226Arg	rs776316695	missense variant	-	NC_000010.11:g.68573014G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Phe228Leu	rs1221101210	missense variant	-	NC_000010.11:g.68573020T>C	gnomAD
TET1	Q8NFU7	p.Ser229Phe	rs772720772	missense variant	-	NC_000010.11:g.68573024C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Glu230Asp	rs763372468	missense variant	-	NC_000010.11:g.68573028A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Glu231Lys	rs1234783951	missense variant	-	NC_000010.11:g.68573029G>A	gnomAD
TET1	Q8NFU7	p.Thr232Ile	rs545216411	missense variant	-	NC_000010.11:g.68573033C>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr232Lys	rs545216411	missense variant	-	NC_000010.11:g.68573033C>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser237Asn	rs1196495991	missense variant	-	NC_000010.11:g.68573048G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro240Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573057C>A	NCI-TCGA
TET1	Q8NFU7	p.Pro240Ser	rs767959452	missense variant	-	NC_000010.11:g.68573056C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Lys241Glu	rs752995764	missense variant	-	NC_000010.11:g.68573059A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Met242Thr	rs756352357	missense variant	-	NC_000010.11:g.68573063T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Phe243Ile	rs777732424	missense variant	-	NC_000010.11:g.68573065T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Ala244Thr	rs1426743764	missense variant	-	NC_000010.11:g.68573068G>A	gnomAD
TET1	Q8NFU7	p.Gln245Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68573071C>T	NCI-TCGA
TET1	Q8NFU7	p.Gln245Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573071C>G	NCI-TCGA
TET1	Q8NFU7	p.Gln245Lys	rs1289784186	missense variant	-	NC_000010.11:g.68573071C>A	TOPMed
TET1	Q8NFU7	p.Asp246Asn	rs1477676976	missense variant	-	NC_000010.11:g.68573074G>A	gnomAD
TET1	Q8NFU7	p.Val248Met	rs780100195	missense variant	-	NC_000010.11:g.68573080G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Val248Ala	rs746929558	missense variant	-	NC_000010.11:g.68573081T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala250Ser	rs768482004	missense variant	-	NC_000010.11:g.68573086G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Phe252Val	COSM3439885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573092T>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro253Ser	COSM3439886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573095C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg255Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573102G>A	NCI-TCGA
TET1	Q8NFU7	p.Ala256Glu	rs12221107	missense variant	-	NC_000010.11:g.68573105C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala256Val	rs12221107	missense variant	-	NC_000010.11:g.68573105C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala256Val	rs12221107	missense variant	-	NC_000010.11:g.68573105C>T	UniProt,dbSNP
TET1	Q8NFU7	p.Ala256Val	VAR_027736	missense variant	-	NC_000010.11:g.68573105C>T	UniProt
TET1	Q8NFU7	p.Thr257Ile	rs140030732	missense variant	-	NC_000010.11:g.68573108C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro258Arg	rs1288806952	missense variant	-	NC_000010.11:g.68573111C>G	TOPMed
TET1	Q8NFU7	p.Val260Ile	rs1387953048	missense variant	-	NC_000010.11:g.68573116G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Val260LeuPheSerTerUnkUnk	COSM6044573	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68573108C>-	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr261Ala	rs1244406416	missense variant	-	NC_000010.11:g.68573119A>G	gnomAD
TET1	Q8NFU7	p.Thr261Asn	rs1478813200	missense variant	-	NC_000010.11:g.68573120C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Ser262Phe	rs772734225	missense variant	-	NC_000010.11:g.68573123C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln263Arg	rs1234170961	missense variant	-	NC_000010.11:g.68573126A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gln263His	rs904734024	missense variant	-	NC_000010.11:g.68573127A>T	gnomAD
TET1	Q8NFU7	p.Gln263Arg	rs1234170961	missense variant	-	NC_000010.11:g.68573126A>G	gnomAD
TET1	Q8NFU7	p.Gly264Glu	rs1004780942	missense variant	-	NC_000010.11:g.68573129G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Asn265Ile	rs1241334779	missense variant	-	NC_000010.11:g.68573132A>T	gnomAD
TET1	Q8NFU7	p.Pro266His	rs1465467281	missense variant	-	NC_000010.11:g.68573135C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro266Ala	rs143870952	missense variant	-	NC_000010.11:g.68573134C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro266Ser	rs143870952	missense variant	-	NC_000010.11:g.68573134C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro266Arg	rs1465467281	missense variant	-	NC_000010.11:g.68573135C>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Ser267Ile	rs146402620	missense variant	-	NC_000010.11:g.68573138G>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile268Val	rs760076374	missense variant	-	NC_000010.11:g.68573140A>G	ExAC
TET1	Q8NFU7	p.Gln269Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573143C>G	NCI-TCGA
TET1	Q8NFU7	p.Gln269His	rs1023378732	missense variant	-	NC_000010.11:g.68573145G>C	TOPMed
TET1	Q8NFU7	p.Gly274Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573158G>A	NCI-TCGA
TET1	Q8NFU7	p.Gly274Arg	rs768012438	missense variant	-	NC_000010.11:g.68573158G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Gly274Cys	rs768012438	missense variant	-	NC_000010.11:g.68573158G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser275Leu	rs760815606	missense variant	-	NC_000010.11:g.68573162C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Arg276Gln	rs753994987	missense variant	-	NC_000010.11:g.68573165G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg276Ter	COSM215430	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68573164C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val277Ile	rs1382097600	missense variant	-	NC_000010.11:g.68573167G>A	gnomAD
TET1	Q8NFU7	p.Val277Ala	rs144745587	missense variant	-	NC_000010.11:g.68573168T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser279Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573174C>A	NCI-TCGA
TET1	Q8NFU7	p.Lys281Asn	COSM919750	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573181G>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys281Asn	COSM4015287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573181G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser285Tyr	COSM919751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573192C>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro289Ser	rs751530578	missense variant	-	NC_000010.11:g.68573203C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile290Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573206A>G	NCI-TCGA
TET1	Q8NFU7	p.Cys296Trp	rs1459093444	missense variant	-	NC_000010.11:g.68573226C>G	gnomAD
TET1	Q8NFU7	p.Pro298Arg	rs1403109458	missense variant	-	NC_000010.11:g.68573231C>G	gnomAD
TET1	Q8NFU7	p.Thr299Ile	rs754861030	missense variant	-	NC_000010.11:g.68573234C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser300Tyr	rs780969535	missense variant	-	NC_000010.11:g.68573237C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser301Arg	rs748002909	missense variant	-	NC_000010.11:g.68573241T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Leu302Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573242C>G	NCI-TCGA
TET1	Q8NFU7	p.Leu302Pro	rs1324390461	missense variant	-	NC_000010.11:g.68573243T>C	gnomAD
TET1	Q8NFU7	p.Asn303Ile	rs769461023	missense variant	-	NC_000010.11:g.68573246A>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys304Glu	rs777528593	missense variant	-	NC_000010.11:g.68573248A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn313Ser	rs1306780234	missense variant	-	NC_000010.11:g.68573276A>G	gnomAD
TET1	Q8NFU7	p.Leu315Trp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573282T>G	NCI-TCGA
TET1	Q8NFU7	p.Ala316Thr	rs748859596	missense variant	-	NC_000010.11:g.68573284G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Leu317Val	rs770503544	missense variant	-	NC_000010.11:g.68573287C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu317Ile	rs770503544	missense variant	-	NC_000010.11:g.68573287C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly318Ser	rs142945297	missense variant	-	NC_000010.11:g.68573290G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly318Cys	rs142945297	missense variant	-	NC_000010.11:g.68573290G>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr321Ala	rs150957212	missense variant	-	NC_000010.11:g.68573299A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr321Met	rs761163037	missense variant	-	NC_000010.11:g.68573300C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser322Cys	rs377638565	missense variant	-	NC_000010.11:g.68573303C>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser322Tyr	rs377638565	missense variant	-	NC_000010.11:g.68573303C>A	NCI-TCGA
TET1	Q8NFU7	p.Ser322Tyr	rs377638565	missense variant	-	NC_000010.11:g.68573303C>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro323Leu	rs1372613736	missense variant	-	NC_000010.11:g.68573306C>T	TOPMed
TET1	Q8NFU7	p.Pro323Thr	rs201973364	missense variant	-	NC_000010.11:g.68573305C>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser325Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573312C>T	NCI-TCGA
TET1	Q8NFU7	p.Ser325Pro	rs750445862	missense variant	-	NC_000010.11:g.68573311T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val326Ala	rs1426715333	missense variant	-	NC_000010.11:g.68573315T>C	TOPMed
TET1	Q8NFU7	p.Val326Ile	COSM1474717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573314G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys328Asn	COSM3807534	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573322A>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Phe329Cys	rs201095472	missense variant	-	NC_000010.11:g.68573324T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu330Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573327T>C	NCI-TCGA
TET1	Q8NFU7	p.Gly333Val	rs752552795	missense variant	-	NC_000010.11:g.68573336G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly333Ala	rs752552795	missense variant	-	NC_000010.11:g.68573336G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala337Glu	rs755974529	missense variant	-	NC_000010.11:g.68573348C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala337Val	rs755974529	missense variant	-	NC_000010.11:g.68573348C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr338Ile	rs748989369	missense variant	-	NC_000010.11:g.68573351C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Leu339Arg	rs199737304	missense variant	-	NC_000010.11:g.68573354T>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Gly340Ser	rs1279814967	missense variant	-	NC_000010.11:g.68573356G>A	gnomAD
TET1	Q8NFU7	p.Gly340Asp	rs1398228984	missense variant	-	NC_000010.11:g.68573357G>A	gnomAD
TET1	Q8NFU7	p.Ala341Val	rs140752046	missense variant	-	NC_000010.11:g.68573360C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro343Thr	rs1355084188	missense variant	-	NC_000010.11:g.68573365C>A	gnomAD
TET1	Q8NFU7	p.Asp344Glu	rs71475256	missense variant	-	NC_000010.11:g.68573370T>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.His345Tyr	rs776190993	missense variant	-	NC_000010.11:g.68573371C>T	ExAC,gnomAD
TET1	Q8NFU7	p.His345Asn	COSM919752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573371C>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala348Gly	rs370086972	missense variant	-	NC_000010.11:g.68573381C>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala348Val	rs370086972	missense variant	-	NC_000010.11:g.68573381C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Phe349Leu	rs147762508	missense variant	-	NC_000010.11:g.68573385C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu350Lys	rs767493807	missense variant	-	NC_000010.11:g.68573386G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu350Gln	rs767493807	missense variant	-	NC_000010.11:g.68573386G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu350Lys	rs767493807	missense variant	-	NC_000010.11:g.68573386G>A	NCI-TCGA
TET1	Q8NFU7	p.Ala351Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573389G>A	NCI-TCGA
TET1	Q8NFU7	p.Ala351Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573389G>T	NCI-TCGA
TET1	Q8NFU7	p.Ala351Pro	rs1222540638	missense variant	-	NC_000010.11:g.68573389G>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Ala351Asp	rs1182248370	missense variant	-	NC_000010.11:g.68573390C>A	gnomAD
TET1	Q8NFU7	p.Ala353Ser	rs763067699	missense variant	-	NC_000010.11:g.68573395G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ala353Val	rs528002456	missense variant	-	NC_000010.11:g.68573396C>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala353Gly	rs528002456	missense variant	-	NC_000010.11:g.68573396C>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln355Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573401C>G	NCI-TCGA
TET1	Q8NFU7	p.Gln355His	rs1195451893	missense variant	-	NC_000010.11:g.68573403A>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Gln356His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573406G>T	NCI-TCGA
TET1	Q8NFU7	p.Gln356Arg	rs889413336	missense variant	-	NC_000010.11:g.68573405A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Gln356Pro	rs889413336	missense variant	-	NC_000010.11:g.68573405A>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Glu357LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68573406G>-	NCI-TCGA
TET1	Q8NFU7	p.Glu357Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573409A>C	NCI-TCGA
TET1	Q8NFU7	p.Val358Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573410G>A	NCI-TCGA
TET1	Q8NFU7	p.Asp360Tyr	rs755954369	missense variant	-	NC_000010.11:g.68573416G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr361Ile	rs763959254	missense variant	-	NC_000010.11:g.68573420C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr362Pro	rs753507163	missense variant	-	NC_000010.11:g.68573422A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Thr362Ile	rs374406450	missense variant	-	NC_000010.11:g.68573423C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly366Val	rs1275914514	missense variant	-	NC_000010.11:g.68573435G>T	TOPMed
TET1	Q8NFU7	p.Gly366Ala	rs1275914514	missense variant	-	NC_000010.11:g.68573435G>C	TOPMed
TET1	Q8NFU7	p.Ala368Pro	rs778770592	missense variant	-	NC_000010.11:g.68573440G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala368Ser	rs778770592	missense variant	-	NC_000010.11:g.68573440G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala368Asp	COSM919753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573441C>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala371Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573450C>T	NCI-TCGA
TET1	Q8NFU7	p.Ile372AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68573452_68573453insACTGGCCGGGCACGCTGGT	NCI-TCGA
TET1	Q8NFU7	p.His374Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573458C>T	NCI-TCGA
TET1	Q8NFU7	p.His374ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68573457_68573458insC	NCI-TCGA
TET1	Q8NFU7	p.Gln375Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68573461C>T	NCI-TCGA
TET1	Q8NFU7	p.Gln375Glu	rs1413140977	missense variant	-	NC_000010.11:g.68573461C>G	gnomAD
TET1	Q8NFU7	p.Trp376Arg	rs1341205271	missense variant	-	NC_000010.11:g.68573464T>C	gnomAD
TET1	Q8NFU7	p.Pro379Ser	COSM3439889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573473C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gly380Asp	rs1214065925	missense variant	-	NC_000010.11:g.68573477G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Gly380Ala	rs1214065925	missense variant	-	NC_000010.11:g.68573477G>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro383Ala	rs1411681380	missense variant	-	NC_000010.11:g.68573485C>G	TOPMed
TET1	Q8NFU7	p.His385Tyr	rs745495089	missense variant	-	NC_000010.11:g.68573491C>T	ExAC
TET1	Q8NFU7	p.His385Arg	rs758025897	missense variant	-	NC_000010.11:g.68573492A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gly390Val	rs1205185024	missense variant	-	NC_000010.11:g.68573507G>T	TOPMed
TET1	Q8NFU7	p.Gly390Asp	rs1205185024	missense variant	-	NC_000010.11:g.68573507G>A	TOPMed
TET1	Q8NFU7	p.Thr392Ile	rs534301234	missense variant	-	NC_000010.11:g.68573513C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr392Asn	rs534301234	missense variant	-	NC_000010.11:g.68573513C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro393Arg	rs747575204	missense variant	-	NC_000010.11:g.68573516C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asp394Gly	rs367919197	missense variant	-	NC_000010.11:g.68573519A>G	ESP,ExAC,TOPMed
TET1	Q8NFU7	p.Leu395Pro	rs770120735	missense variant	-	NC_000010.11:g.68573522T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu395Val	rs748518458	missense variant	-	NC_000010.11:g.68573521C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro396Ser	rs1474758181	missense variant	-	NC_000010.11:g.68573524C>T	gnomAD
TET1	Q8NFU7	p.Glu397Ala	rs773462703	missense variant	-	NC_000010.11:g.68573528A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Pro399Leu	rs1417939173	missense variant	-	NC_000010.11:g.68573534C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Gly400Val	rs1478235065	missense variant	-	NC_000010.11:g.68573537G>T	TOPMed
TET1	Q8NFU7	p.Ala401Pro	rs763119180	missense variant	-	NC_000010.11:g.68573539G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Ala401Val	rs999040718	missense variant	-	NC_000010.11:g.68573540C>T	TOPMed
TET1	Q8NFU7	p.Ala401Thr	rs763119180	missense variant	-	NC_000010.11:g.68573539G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Val404Ala	rs1476606636	missense variant	-	NC_000010.11:g.68573549T>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Val408Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573561T>A	NCI-TCGA
TET1	Q8NFU7	p.Gly410Asp	rs753805259	missense variant	-	NC_000010.11:g.68573567G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Thr411Ile	rs1287223271	missense variant	-	NC_000010.11:g.68573570C>T	gnomAD
TET1	Q8NFU7	p.Ile412Val	rs1251962550	missense variant	-	NC_000010.11:g.68573572A>G	TOPMed
TET1	Q8NFU7	p.Asp414Glu	rs1035210502	missense variant	-	NC_000010.11:g.68573580C>A	TOPMed
TET1	Q8NFU7	p.Gln415Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68573581C>T	NCI-TCGA
TET1	Q8NFU7	p.Glu417Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68573587G>T	NCI-TCGA
TET1	Q8NFU7	p.Glu417Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573589A>C	NCI-TCGA
TET1	Q8NFU7	p.Gly420Ser	rs1220116067	missense variant	-	NC_000010.11:g.68573596G>A	TOPMed
TET1	Q8NFU7	p.Met421Val	rs765096454	missense variant	-	NC_000010.11:g.68573599A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser422Arg	rs1277959611	missense variant	-	NC_000010.11:g.68573602A>C	TOPMed
TET1	Q8NFU7	p.Gly423Arg	rs1230503010	missense variant	-	NC_000010.11:g.68573605G>A	TOPMed
TET1	Q8NFU7	p.Ser424Asn	rs372145516	missense variant	-	NC_000010.11:g.68573609G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val426Ala	rs368121652	missense variant	-	NC_000010.11:g.68573615T>C	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro430HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68573626_68573627insA	NCI-TCGA
TET1	Q8NFU7	p.Pro430Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573626C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro430His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573627C>A	NCI-TCGA
TET1	Q8NFU7	p.Leu433Phe	rs781598952	missense variant	-	NC_000010.11:g.68573635C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Pro434Leu	rs748621988	missense variant	-	NC_000010.11:g.68573639C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val435Ile	rs73276466	missense variant	-	NC_000010.11:g.68573641G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val435Phe	rs73276466	missense variant	-	NC_000010.11:g.68573641G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro436Leu	rs1452899496	missense variant	-	NC_000010.11:g.68573645C>T	gnomAD
TET1	Q8NFU7	p.Pro437Leu	COSM3723840	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573648C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro439Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573654C>A	NCI-TCGA
TET1	Q8NFU7	p.Ile440Val	rs778059839	missense variant	-	NC_000010.11:g.68573656A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile440Thr	rs374116756	missense variant	-	NC_000010.11:g.68573657T>C	ESP,ExAC,gnomAD
TET1	Q8NFU7	p.Ile440Phe	rs778059839	missense variant	-	NC_000010.11:g.68573656A>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Phe443Leu	rs759596302	missense variant	-	NC_000010.11:g.68573665T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala445Ser	rs772173706	missense variant	-	NC_000010.11:g.68573671G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ala445Val	COSM3415203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573672C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro446Thr	rs1186687250	missense variant	-	NC_000010.11:g.68573674C>A	TOPMed
TET1	Q8NFU7	p.Ser447Phe	rs1325065132	missense variant	-	NC_000010.11:g.68573678C>T	gnomAD
TET1	Q8NFU7	p.Pro450Ala	rs765147521	missense variant	-	NC_000010.11:g.68573686C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro452His	rs750186974	missense variant	-	NC_000010.11:g.68573693C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Gln453Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573695C>A	NCI-TCGA
TET1	Q8NFU7	p.Thr455Ala	rs766013288	missense variant	-	NC_000010.11:g.68573701A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr455Ile	COSM3439890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573702C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val456Leu	rs765813789	missense variant	-	NC_000010.11:g.68573704G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Val456Asp	rs754487252	missense variant	-	NC_000010.11:g.68573705T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Val456Ile	rs765813789	missense variant	-	NC_000010.11:g.68573704G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Ala461Val	rs756552545	missense variant	-	NC_000010.11:g.68573720C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Gly464Asp	rs1446748776	missense variant	-	NC_000010.11:g.68573729G>A	TOPMed
TET1	Q8NFU7	p.Ala465Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573731G>C	NCI-TCGA
TET1	Q8NFU7	p.Ala465Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573732C>A	NCI-TCGA
TET1	Q8NFU7	p.Ile466Thr	rs778111044	missense variant	-	NC_000010.11:g.68573735T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Ile466Met	rs1233792351	missense variant	-	NC_000010.11:g.68573736A>G	gnomAD
TET1	Q8NFU7	p.Gln467His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573739G>T	NCI-TCGA
TET1	Q8NFU7	p.Gln467Pro	COSM919754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573738A>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gly472Val	rs1398311978	missense variant	-	NC_000010.11:g.68573753G>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Thr476Ser	rs779057764	missense variant	-	NC_000010.11:g.68573765C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro477Ser	rs1461980547	missense variant	-	NC_000010.11:g.68573767C>T	gnomAD
TET1	Q8NFU7	p.Pro477Leu	rs141856939	missense variant	-	NC_000010.11:g.68573768C>T	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Gln478His	rs772079002	missense variant	-	NC_000010.11:g.68573772A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser480Leu	rs775663404	missense variant	-	NC_000010.11:g.68573777C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser481Pro	COSM1348707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573779T>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn482His	rs570151139	missense variant	-	NC_000010.11:g.68573782A>C	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Asn482Ser	rs961419225	missense variant	-	NC_000010.11:g.68573783A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Ser483Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68573786C>G	NCI-TCGA
TET1	Q8NFU7	p.Glu484Asp	rs538486517	missense variant	-	NC_000010.11:g.68573790G>C	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu484Asp	rs538486517	missense variant	-	NC_000010.11:g.68573790G>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu484Asp	rs538486517	missense variant	-	NC_000010.11:g.68573790G>T	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys485Thr	rs1285528312	missense variant	-	NC_000010.11:g.68573792A>C	gnomAD
TET1	Q8NFU7	p.Ser487Leu	rs150689919	missense variant	-	NC_000010.11:g.68573798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu488Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573800T>G	NCI-TCGA
TET1	Q8NFU7	p.Pro489His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573804C>A	NCI-TCGA
TET1	Q8NFU7	p.Pro489Thr	rs762889327	missense variant	-	NC_000010.11:g.68573803C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro490Leu	rs766166427	missense variant	-	NC_000010.11:g.68573807C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ala493Pro	rs933927897	missense variant	-	NC_000010.11:g.68573815G>C	gnomAD
TET1	Q8NFU7	p.Ile494Met	rs1437545818	missense variant	-	NC_000010.11:g.68573820A>G	gnomAD
TET1	Q8NFU7	p.Asn496Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573825A>C	NCI-TCGA
TET1	Q8NFU7	p.Glu500Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573836G>A	NCI-TCGA
TET1	Q8NFU7	p.Gln502Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573842C>A	NCI-TCGA
TET1	Q8NFU7	p.Val503Phe	rs752133010	missense variant	-	NC_000010.11:g.68573845G>T	ExAC,gnomAD
TET1	Q8NFU7	p.His504IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68573846T>-	NCI-TCGA
TET1	Q8NFU7	p.Leu508Arg	rs755613476	missense variant	-	NC_000010.11:g.68573861T>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro509Ser	rs764639945	missense variant	-	NC_000010.11:g.68573863C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro509Leu	rs754324920	missense variant	-	NC_000010.11:g.68573864C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro509Leu	rs754324920	missense variant	-	NC_000010.11:g.68573864C>T	NCI-TCGA
TET1	Q8NFU7	p.Thr512Ala	rs746103772	missense variant	-	NC_000010.11:g.68573872A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln513Arg	rs1413768012	missense variant	-	NC_000010.11:g.68573876A>G	gnomAD
TET1	Q8NFU7	p.Gln513Glu	rs189764010	missense variant	-	NC_000010.11:g.68573875C>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Gly514Arg	rs780287443	missense variant	-	NC_000010.11:g.68573878G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Gly514Val	rs1421498642	missense variant	-	NC_000010.11:g.68573879G>T	TOPMed
TET1	Q8NFU7	p.Leu517Phe	COSM685569	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573889A>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala518Gly	rs1227529542	missense variant	-	NC_000010.11:g.68573891C>G	gnomAD
TET1	Q8NFU7	p.Ala518Val	rs1227529542	missense variant	-	NC_000010.11:g.68573891C>T	gnomAD
TET1	Q8NFU7	p.Pro519Ser	COSM3439891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573893C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Phe524Leu	rs1284631673	missense variant	-	NC_000010.11:g.68573910C>G	TOPMed,gnomAD
TET1	Q8NFU7	p.His525Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573911C>T	NCI-TCGA
TET1	Q8NFU7	p.His525Arg	rs372011235	missense variant	-	NC_000010.11:g.68573912A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala526Val	rs749209014	missense variant	-	NC_000010.11:g.68573915C>T	ExAC
TET1	Q8NFU7	p.Ala526Thr	rs773322363	missense variant	-	NC_000010.11:g.68573914G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser527Leu	COSM427792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573918C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu528Gln	rs770652473	missense variant	-	NC_000010.11:g.68573921T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Leu528Arg	rs770652473	missense variant	-	NC_000010.11:g.68573921T>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gly529Arg	rs911134937	missense variant	-	NC_000010.11:g.68573923G>C	gnomAD
TET1	Q8NFU7	p.Gly529Ser	rs911134937	missense variant	-	NC_000010.11:g.68573923G>A	gnomAD
TET1	Q8NFU7	p.Ile530Val	rs774136143	missense variant	-	NC_000010.11:g.68573926A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ala531Val	rs767220335	missense variant	-	NC_000010.11:g.68573930C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ala531Ser	rs199940992	missense variant	-	NC_000010.11:g.68573929G>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala531Thr	rs199940992	missense variant	-	NC_000010.11:g.68573929G>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu533His	rs946395830	missense variant	-	NC_000010.11:g.68573936T>A	TOPMed
TET1	Q8NFU7	p.Leu533Ile	rs775107195	missense variant	-	NC_000010.11:g.68573935C>A	ExAC
TET1	Q8NFU7	p.Gln535Glu	rs1261992946	missense variant	-	NC_000010.11:g.68573941C>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Ala536Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573945C>A	NCI-TCGA
TET1	Q8NFU7	p.Ala536Val	rs1372389212	missense variant	-	NC_000010.11:g.68573945C>T	gnomAD
TET1	Q8NFU7	p.Gly537Val	rs1474368532	missense variant	-	NC_000010.11:g.68573948G>T	gnomAD
TET1	Q8NFU7	p.Ser539Arg	rs760230649	missense variant	-	NC_000010.11:g.68573955C>G	ExAC,TOPMed
TET1	Q8NFU7	p.Lys540Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68573956A>G	NCI-TCGA
TET1	Q8NFU7	p.Gly544Arg	rs1174296600	missense variant	-	NC_000010.11:g.68573968G>C	gnomAD
TET1	Q8NFU7	p.Gly544Trp	COSM919756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68573968G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser546Phe	rs763567146	missense variant	-	NC_000010.11:g.68573975C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser546Phe	rs763567146	missense variant	-	NC_000010.11:g.68573975C>T	NCI-TCGA
TET1	Q8NFU7	p.Gln547Glu	rs754378171	missense variant	-	NC_000010.11:g.68573977C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Thr551Ser	rs765533957	missense variant	-	NC_000010.11:g.68573990C>G	ExAC
TET1	Q8NFU7	p.His555Arg	rs1382253814	missense variant	-	NC_000010.11:g.68574002A>G	gnomAD
TET1	Q8NFU7	p.His555Asn	rs1056215784	missense variant	-	NC_000010.11:g.68574001C>A	TOPMed
TET1	Q8NFU7	p.Val557Phe	rs758687103	missense variant	-	NC_000010.11:g.68574007G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr559Ser	rs780483452	missense variant	-	NC_000010.11:g.68574013A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr559Ala	COSM919757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574013A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val561Ala	rs542995452	missense variant	-	NC_000010.11:g.68574020T>C	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Val561Met	rs1278398214	missense variant	-	NC_000010.11:g.68574019G>A	gnomAD
TET1	Q8NFU7	p.Thr563Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68574026C>A	NCI-TCGA
TET1	Q8NFU7	p.Thr563Ile	rs1367261062	missense variant	-	NC_000010.11:g.68574026C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Met564Val	rs755138758	missense variant	-	NC_000010.11:g.68574028A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Met564Ile	rs781372537	missense variant	-	NC_000010.11:g.68574030G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Met564Ile	rs781372537	missense variant	-	NC_000010.11:g.68574030G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Met568Lys	rs770830999	missense variant	-	NC_000010.11:g.68574041T>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Met568Val	rs1164298952	missense variant	-	NC_000010.11:g.68574040A>G	gnomAD
TET1	Q8NFU7	p.Met568Thr	rs770830999	missense variant	-	NC_000010.11:g.68574041T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val569Ile	rs1200912007	missense variant	-	NC_000010.11:g.68574043G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Ser570Thr	rs1453513681	missense variant	-	NC_000010.11:g.68574047G>C	gnomAD
TET1	Q8NFU7	p.Ser570Gly	rs80114546	missense variant	-	NC_000010.11:g.68574046A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr571Asn	rs1381741063	missense variant	-	NC_000010.11:g.68574050C>A	gnomAD
TET1	Q8NFU7	p.Thr571Ala	rs1171553609	missense variant	-	NC_000010.11:g.68574049A>G	gnomAD
TET1	Q8NFU7	p.Ser572Ala	rs745731412	missense variant	-	NC_000010.11:g.68574052T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Tyr576Cys	rs775166524	missense variant	-	NC_000010.11:g.68574065A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Thr578Ile	rs760983285	missense variant	-	NC_000010.11:g.68574071C>T	gnomAD
TET1	Q8NFU7	p.Leu580Pro	rs1252809815	missense variant	-	NC_000010.11:g.68574077T>C	TOPMed
TET1	Q8NFU7	p.Pro581Leu	rs760283652	missense variant	-	NC_000010.11:g.68574080C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro581Gln	rs760283652	missense variant	-	NC_000010.11:g.68574080C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro581Leu	rs760283652	missense variant	-	NC_000010.11:g.68574080C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Leu583Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68574087G>T	NCI-TCGA
TET1	Q8NFU7	p.Leu583Phe	rs776152780	missense variant	-	NC_000010.11:g.68574087G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Lys585Asn	rs762232511	missense variant	-	NC_000010.11:g.68574093G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Lys585Asn	rs762232511	missense variant	-	NC_000010.11:g.68574093G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Lys586Arg	rs765840106	missense variant	-	NC_000010.11:g.68574095A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg588Lys	rs1191715443	missense variant	-	NC_000010.11:g.68574101G>A	gnomAD
TET1	Q8NFU7	p.Arg588Ile	COSM919758	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574101G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg590Gln	rs528233201	missense variant	-	NC_000010.11:g.68574107G>A	gnomAD
TET1	Q8NFU7	p.Arg590Ter	rs750883311	stop gained	-	NC_000010.11:g.68574106C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Val593Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68574115G>A	NCI-TCGA
TET1	Q8NFU7	p.Asn602Ser	rs1361717255	missense variant	-	NC_000010.11:g.68574143A>G	gnomAD
TET1	Q8NFU7	p.Thr607Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68574158C>G	NCI-TCGA
TET1	Q8NFU7	p.Thr607Ile	rs751851682	missense variant	-	NC_000010.11:g.68574158C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr607Ala	COSM4918440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574157A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys610Glu	rs752884644	missense variant	-	NC_000010.11:g.68574166A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg612Ile	COSM919760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574173G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys613Asn	COSM258162	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68574177G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser615Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68574182G>T	NCI-TCGA
TET1	Q8NFU7	p.Ser615Arg	rs1375977443	missense variant	-	NC_000010.11:g.68574183C>G	gnomAD
TET1	Q8NFU7	p.His616Pro	rs1306490843	missense variant	-	NC_000010.11:g.68574185A>C	gnomAD
TET1	Q8NFU7	p.His616Asp	rs1392340185	missense variant	-	NC_000010.11:g.68574184C>G	gnomAD
TET1	Q8NFU7	p.Gln617Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68574187C>T	NCI-TCGA
TET1	Q8NFU7	p.Ile618Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68574191T>A	NCI-TCGA
TET1	Q8NFU7	p.Ile618Met	rs778956029	missense variant	-	NC_000010.11:g.68574192C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys629Arg	rs1334330273	missense variant	-	NC_000010.11:g.68574224A>G	gnomAD
TET1	Q8NFU7	p.Pro631Thr	rs779779567	missense variant	-	NC_000010.11:g.68574229C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro631Arg	rs1480801672	missense variant	-	NC_000010.11:g.68574230C>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro631Leu	rs1480801672	missense variant	-	NC_000010.11:g.68574230C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Ser632LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68574231A>-	NCI-TCGA
TET1	Q8NFU7	p.Val633Ile	rs546506706	missense variant	-	NC_000010.11:g.68574235G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val634Phe	rs1188274184	missense variant	-	NC_000010.11:g.68574238G>T	gnomAD
TET1	Q8NFU7	p.Val635Ala	rs1473977983	missense variant	-	NC_000010.11:g.68574242T>C	gnomAD
TET1	Q8NFU7	p.Val635Leu	rs1416509462	missense variant	-	NC_000010.11:g.68574241G>T	gnomAD
TET1	Q8NFU7	p.Pro636Leu	rs1368200410	missense variant	-	NC_000010.11:g.68574245C>T	TOPMed
TET1	Q8NFU7	p.Pro636Arg	rs1368200410	missense variant	-	NC_000010.11:g.68574245C>G	TOPMed
TET1	Q8NFU7	p.Val639Ile	rs545206990	missense variant	-	NC_000010.11:g.68600981G>A	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Asn643Lys	rs1213907743	missense variant	-	NC_000010.11:g.68600995C>G	gnomAD
TET1	Q8NFU7	p.Lys644Arg	rs747726744	missense variant	-	NC_000010.11:g.68600997A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Arg645Ser	rs769368130	missense variant	-	NC_000010.11:g.68601001G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Pro646Leu	rs772537863	missense variant	-	NC_000010.11:g.68601003C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Gln647His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68601007G>C	NCI-TCGA
TET1	Q8NFU7	p.Arg648Lys	rs1345339087	missense variant	-	NC_000010.11:g.68601009G>A	gnomAD
TET1	Q8NFU7	p.Glu649Lys	rs1217553216	missense variant	-	NC_000010.11:g.68601011G>A	gnomAD
TET1	Q8NFU7	p.Lys650Asn	COSM919762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68601016G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys651Glu	rs1448357914	missense variant	-	NC_000010.11:g.68601017A>G	TOPMed
TET1	Q8NFU7	p.Lys651Asn	COSM1474718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68601019G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro652Leu	rs1242174433	missense variant	-	NC_000010.11:g.68601021C>T	gnomAD
TET1	Q8NFU7	p.Lys653Glu	COSM6130143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68601023A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys653Thr	COSM919763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68601024A>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu655Ter	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68601027T>-	NCI-TCGA
TET1	Q8NFU7	p.Ala657Gly	rs1266734167	missense variant	-	NC_000010.11:g.68644699C>G	gnomAD
TET1	Q8NFU7	p.Asp658Asn	rs755655526	missense variant	-	NC_000010.11:g.68644701G>A	ExAC
TET1	Q8NFU7	p.Asp660Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68644708A>G	NCI-TCGA
TET1	Q8NFU7	p.Asn661His	rs201980026	missense variant	-	NC_000010.11:g.68644710A>C	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn661Lys	rs1186060538	missense variant	-	NC_000010.11:g.68644712C>A	TOPMed
TET1	Q8NFU7	p.Pro667Ser	rs1252747230	missense variant	-	NC_000010.11:g.68644728C>T	gnomAD
TET1	Q8NFU7	p.Lys668Met	rs748862192	missense variant	-	NC_000010.11:g.68644732A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Glu670Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68644737G>C	NCI-TCGA
TET1	Q8NFU7	p.Met672Val	rs1409004229	missense variant	-	NC_000010.11:g.68644743A>G	gnomAD
TET1	Q8NFU7	p.Asp673Val	COSM4015289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68644747A>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Tyr674Asn	rs138802838	missense variant	-	NC_000010.11:g.68644749T>A	ESP,ExAC,TOPMed
TET1	Q8NFU7	p.Ser675Gly	rs141988009	missense variant	-	NC_000010.11:g.68644752A>G	NCI-TCGA
TET1	Q8NFU7	p.Ser675Gly	rs141988009	missense variant	-	NC_000010.11:g.68644752A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg676Ter	rs1429111804	stop gained	-	NC_000010.11:g.68644755A>T	TOPMed
TET1	Q8NFU7	p.Arg676Gly	rs1429111804	missense variant	-	NC_000010.11:g.68644755A>G	TOPMed
TET1	Q8NFU7	p.Cys677Tyr	rs760959991	missense variant	-	NC_000010.11:g.68644759G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Cys677Ser	rs146391369	missense variant	-	NC_000010.11:g.68644758T>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly680Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68644768G>T	NCI-TCGA
TET1	Q8NFU7	p.Gln683Glu	rs139785845	missense variant	-	NC_000010.11:g.68644776C>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys684Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68644781A>C	NCI-TCGA
TET1	Q8NFU7	p.Leu685Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68644783T>A	NCI-TCGA
TET1	Q8NFU7	p.His690Asp	rs751530798	missense variant	-	NC_000010.11:g.68644797C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Val692Phe	rs1214857939	missense variant	-	NC_000010.11:g.68644803G>T	gnomAD
TET1	Q8NFU7	p.Val695Leu	rs1273112824	missense variant	-	NC_000010.11:g.68644812G>T	gnomAD
TET1	Q8NFU7	p.Lys697Glu	rs767348097	missense variant	-	NC_000010.11:g.68644818A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asn698Lys	rs755923441	missense variant	-	NC_000010.11:g.68644823T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn698Ser	rs201182189	missense variant	-	NC_000010.11:g.68644822A>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Ser701Asn	rs117273115	missense variant	-	NC_000010.11:g.68644831G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Met702Ile	rs756857307	missense variant	-	NC_000010.11:g.68644835G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Met702Val	rs753506299	missense variant	-	NC_000010.11:g.68644833A>G	ExAC
TET1	Q8NFU7	p.Gly704Val	rs1420099949	missense variant	-	NC_000010.11:g.68644840G>T	gnomAD
TET1	Q8NFU7	p.Glu706Lys	rs1388513943	missense variant	-	NC_000010.11:g.68644845G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Glu708Ala	rs746393438	missense variant	-	NC_000010.11:g.68644852A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Lys709Thr	rs1329258987	missense variant	-	NC_000010.11:g.68644855A>C	gnomAD
TET1	Q8NFU7	p.Lys714Glu	rs772395702	missense variant	-	NC_000010.11:g.68644869A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Lys714Asn	COSM919764	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68644871G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys715Ile	rs1355467535	missense variant	-	NC_000010.11:g.68644873A>T	gnomAD
TET1	Q8NFU7	p.Leu718Phe	rs1295587454	missense variant	-	NC_000010.11:g.68644883A>T	TOPMed
TET1	Q8NFU7	p.Asp720Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68644889T>G	NCI-TCGA
TET1	Q8NFU7	p.Asp720Val	rs747391984	missense variant	-	NC_000010.11:g.68644888A>T	ExAC
TET1	Q8NFU7	p.His721Asn	rs776880066	missense variant	-	NC_000010.11:g.68644890C>A	ExAC,gnomAD
TET1	Q8NFU7	p.His721Arg	rs1274126645	missense variant	-	NC_000010.11:g.68644891A>G	gnomAD
TET1	Q8NFU7	p.Val722Leu	rs769874955	missense variant	-	NC_000010.11:g.68644893G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val722Met	rs769874955	missense variant	-	NC_000010.11:g.68644893G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asp725Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68644902G>T	NCI-TCGA
TET1	Q8NFU7	p.Asn729Asp	rs767412259	missense variant	-	NC_000010.11:g.68644914A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn729His	rs767412259	missense variant	-	NC_000010.11:g.68644914A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val730Ile	rs760424193	missense variant	-	NC_000010.11:g.68644917G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu734Lys	rs1168479529	missense variant	-	NC_000010.11:g.68644929G>A	gnomAD
TET1	Q8NFU7	p.Lys735Glu	rs1418521511	missense variant	-	NC_000010.11:g.68644932A>G	gnomAD
TET1	Q8NFU7	p.Ser736Leu	rs756914683	missense variant	-	NC_000010.11:g.68644936C>T	NCI-TCGA
TET1	Q8NFU7	p.Ser736Leu	rs756914683	missense variant	-	NC_000010.11:g.68644936C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Asn738Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68644942A>G	NCI-TCGA
TET1	Q8NFU7	p.Glu740Lys	rs1375732956	missense variant	-	NC_000010.11:g.68644947G>A	gnomAD
TET1	Q8NFU7	p.Glu740Gly	rs1482597422	missense variant	-	NC_000010.11:g.68644948A>G	TOPMed
TET1	Q8NFU7	p.Val741Ile	COSM919765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68644950G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asp742His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68644953G>C	NCI-TCGA
TET1	Q8NFU7	p.Arg745Gln	rs369109149	missense variant	-	NC_000010.11:g.68644963G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg745Ter	rs568996501	stop gained	-	NC_000010.11:g.68644962C>T	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Arg745Ter	rs568996501	stop gained	-	NC_000010.11:g.68644962C>T	NCI-TCGA
TET1	Q8NFU7	p.Arg745Gln	rs369109149	missense variant	-	NC_000010.11:g.68644963G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val756Ile	rs376909245	missense variant	-	NC_000010.11:g.68644995G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val756Ala	rs1282707536	missense variant	-	NC_000010.11:g.68644996T>C	gnomAD
TET1	Q8NFU7	p.Asn758LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68645002_68645003insAGACAAC	NCI-TCGA
TET1	Q8NFU7	p.Gly759Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645004G>A	NCI-TCGA
TET1	Q8NFU7	p.Gly759Asp	rs1348824746	missense variant	-	NC_000010.11:g.68645005G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gly759Asp	rs1348824746	missense variant	-	NC_000010.11:g.68645005G>A	gnomAD
TET1	Q8NFU7	p.Ile760Leu	rs1210468278	missense variant	-	NC_000010.11:g.68645007A>C	gnomAD
TET1	Q8NFU7	p.Lys761AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68645010A>-	NCI-TCGA
TET1	Q8NFU7	p.His762Arg	rs762991587	missense variant	-	NC_000010.11:g.68645014A>G	ExAC
TET1	Q8NFU7	p.His762Tyr	rs773409567	missense variant	-	NC_000010.11:g.68645013C>T	ExAC,gnomAD
TET1	Q8NFU7	p.His764Asp	rs139443981	missense variant	-	NC_000010.11:g.68645019C>G	ESP,TOPMed,gnomAD
TET1	Q8NFU7	p.His764Tyr	rs139443981	missense variant	-	NC_000010.11:g.68645019C>T	ESP,TOPMed,gnomAD
TET1	Q8NFU7	p.His764Gln	rs200213853	missense variant	-	NC_000010.11:g.68645021C>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.His764Arg	rs1193807052	missense variant	-	NC_000010.11:g.68645020A>G	gnomAD
TET1	Q8NFU7	p.His764Gln	rs200213853	missense variant	-	NC_000010.11:g.68645021C>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Cys765Arg	rs775317352	missense variant	-	NC_000010.11:g.68645022T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Asn771Ser	rs1456785468	missense variant	-	NC_000010.11:g.68645041A>G	gnomAD
TET1	Q8NFU7	p.Ser773Leu	COSM4850289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645047C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Phe774Leu	rs763992387	missense variant	-	NC_000010.11:g.68645051T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Lys775LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68645051_68645052insTTAGTTAC	NCI-TCGA
TET1	Q8NFU7	p.Lys776AsnPheSerTerUnkUnk	COSM1348709	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68645052A>-	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn778Ser	rs1251247697	missense variant	-	NC_000010.11:g.68645062A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Asn778Asp	rs761699801	missense variant	-	NC_000010.11:g.68645061A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Glu780Gln	rs750068661	missense variant	-	NC_000010.11:g.68645067G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu781Asp	rs1432830647	missense variant	-	NC_000010.11:g.68645072A>C	gnomAD
TET1	Q8NFU7	p.Glu781Ter	COSM919767	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68645070G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gly783Ser	rs376078561	missense variant	-	NC_000010.11:g.68645076G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly783Val	rs765874881	missense variant	-	NC_000010.11:g.68645077G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr785Ile	rs752031507	missense variant	-	NC_000010.11:g.68645083C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr785Ala	rs1372200378	missense variant	-	NC_000010.11:g.68645082A>G	gnomAD
TET1	Q8NFU7	p.Leu786Phe	rs1472082373	missense variant	-	NC_000010.11:g.68645087G>T	TOPMed
TET1	Q8NFU7	p.Glu787Ala	rs1409457779	missense variant	-	NC_000010.11:g.68645089A>C	TOPMed
TET1	Q8NFU7	p.Ser790Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645098C>T	NCI-TCGA
TET1	Q8NFU7	p.Tyr791Phe	rs748569151	missense variant	-	NC_000010.11:g.68645101A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Tyr791His	rs1431681610	missense variant	-	NC_000010.11:g.68645100T>C	gnomAD
TET1	Q8NFU7	p.Lys792Glu	rs1470171995	missense variant	-	NC_000010.11:g.68645103A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Phe793Leu	rs756448233	missense variant	-	NC_000010.11:g.68645106T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Lys795Gln	rs1057302260	missense variant	-	NC_000010.11:g.68645112A>C	TOPMed
TET1	Q8NFU7	p.Lys795Glu	COSM3439893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645112A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asp796His	rs140860687	missense variant	-	NC_000010.11:g.68645115G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr797Ile	rs1010322878	missense variant	-	NC_000010.11:g.68645119C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Thr797Asn	rs1010322878	missense variant	-	NC_000010.11:g.68645119C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Thr797Pro	rs770934700	missense variant	-	NC_000010.11:g.68645118A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Thr797Ala	rs770934700	missense variant	-	NC_000010.11:g.68645118A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ala798Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645121G>A	NCI-TCGA
TET1	Q8NFU7	p.Ala798Val	rs746949432	missense variant	-	NC_000010.11:g.68645122C>T	ExAC,gnomAD
TET1	Q8NFU7	p.His800Asp	rs768784531	missense variant	-	NC_000010.11:g.68645127C>G	ExAC
TET1	Q8NFU7	p.His800Arg	rs374183683	missense variant	-	NC_000010.11:g.68645128A>G	ESP,ExAC,gnomAD
TET1	Q8NFU7	p.Lys801Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645132A>C	NCI-TCGA
TET1	Q8NFU7	p.Lys801Glu	rs553983795	missense variant	-	NC_000010.11:g.68645130A>G	1000Genomes,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala803Thr	rs765094207	missense variant	-	NC_000010.11:g.68645136G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala803Thr	rs765094207	missense variant	-	NC_000010.11:g.68645136G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala803Ser	COSM3985702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645136G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Met804Thr	rs1328525221	missense variant	-	NC_000010.11:g.68645140T>C	gnomAD
TET1	Q8NFU7	p.Met804Val	rs978163164	missense variant	-	NC_000010.11:g.68645139A>G	gnomAD
TET1	Q8NFU7	p.Ser806Phe	COSM1297382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645146C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr809Ser	rs766431300	missense variant	-	NC_000010.11:g.68645154A>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Met811Thr	rs1298265659	missense variant	-	NC_000010.11:g.68645161T>C	gnomAD
TET1	Q8NFU7	p.Met811Ile	rs751146830	missense variant	-	NC_000010.11:g.68645162G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Leu816Val	rs768061059	missense variant	-	NC_000010.11:g.68645175C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Leu816Pro	rs1327178282	missense variant	-	NC_000010.11:g.68645176T>C	gnomAD
TET1	Q8NFU7	p.Gly818Arg	rs753171164	missense variant	-	NC_000010.11:g.68645181G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg819Gly	rs756497377	missense variant	-	NC_000010.11:g.68645184A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asn821Lys	rs372492171	missense variant	-	NC_000010.11:g.68645192C>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val822Ile	rs376967368	missense variant	-	NC_000010.11:g.68645193G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln826Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68645205C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro828Ser	rs370296152	missense variant	-	NC_000010.11:g.68645211C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Cys832Tyr	rs74925160	missense variant	-	NC_000010.11:g.68645224G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Cys832Gly	rs1475941689	missense variant	-	NC_000010.11:g.68645223T>G	gnomAD
TET1	Q8NFU7	p.Ser834Ala	COSM6066575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645229T>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile835Phe	rs1419271249	missense variant	-	NC_000010.11:g.68645232A>T	gnomAD
TET1	Q8NFU7	p.His837Arg	rs1457693518	missense variant	-	NC_000010.11:g.68645239A>G	gnomAD
TET1	Q8NFU7	p.His837Gln	rs368145515	missense variant	-	NC_000010.11:g.68645240T>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser838Pro	rs544865051	missense variant	-	NC_000010.11:g.68645241T>C	1000Genomes,TOPMed
TET1	Q8NFU7	p.Ser839ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68645243_68645244TT>-	NCI-TCGA
TET1	Q8NFU7	p.His840Tyr	rs776749771	missense variant	-	NC_000010.11:g.68645247C>T	ExAC,gnomAD
TET1	Q8NFU7	p.His840Arg	rs1392120109	missense variant	-	NC_000010.11:g.68645248A>G	gnomAD
TET1	Q8NFU7	p.Ser841Pro	rs769499798	missense variant	-	NC_000010.11:g.68645250T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile842Leu	rs77500190	missense variant	-	NC_000010.11:g.68645253A>C	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile842Val	rs77500190	missense variant	-	NC_000010.11:g.68645253A>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile842Val	rs77500190	missense variant	-	NC_000010.11:g.68645253A>G	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn844Ser	rs1293804972	missense variant	-	NC_000010.11:g.68645260A>G	gnomAD
TET1	Q8NFU7	p.His846Arg	rs200544824	missense variant	-	NC_000010.11:g.68645266A>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala847ValPheIlePheSerTyrIlePheAsn	NCI-TCGA novel	insertion	-	NC_000010.11:g.68645270_68645271insGTCTTCATTTTTAGTTACATTTTCAAC	NCI-TCGA
TET1	Q8NFU7	p.Ala847Thr	rs375262638	missense variant	-	NC_000010.11:g.68645268G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser848Thr	rs759086155	missense variant	-	NC_000010.11:g.68645272G>C	ExAC
TET1	Q8NFU7	p.Ser848Gly	rs200014013	missense variant	-	NC_000010.11:g.68645271A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ser848Arg	rs1480841047	missense variant	-	NC_000010.11:g.68645273T>G	gnomAD
TET1	Q8NFU7	p.Ser848Cys	rs200014013	missense variant	-	NC_000010.11:g.68645271A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ile849Met	rs1252405324	missense variant	-	NC_000010.11:g.68645276A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.His850Tyr	rs766969350	missense variant	-	NC_000010.11:g.68645277C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Asn851Ser	rs761109513	missense variant	-	NC_000010.11:g.68645281A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly853Asp	rs1188096296	missense variant	-	NC_000010.11:g.68645287G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Asp854Glu	rs764367746	missense variant	-	NC_000010.11:g.68645291T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro856Gln	rs199602262	missense variant	-	NC_000010.11:g.68645296C>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr858Pro	rs757552396	missense variant	-	NC_000010.11:g.68645301A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr858Ala	rs757552396	missense variant	-	NC_000010.11:g.68645301A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr858Asn	rs1375072224	missense variant	-	NC_000010.11:g.68645302C>A	gnomAD
TET1	Q8NFU7	p.Pro859Ala	rs1462874401	missense variant	-	NC_000010.11:g.68645304C>G	gnomAD
TET1	Q8NFU7	p.Pro859Leu	rs750646872	missense variant	-	NC_000010.11:g.68645305C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Glu860Asp	rs1362476717	missense variant	-	NC_000010.11:g.68645309G>T	NCI-TCGA
TET1	Q8NFU7	p.Glu860Asp	rs1362476717	missense variant	-	NC_000010.11:g.68645309G>T	TOPMed
TET1	Q8NFU7	p.Glu860Gln	rs1416662531	missense variant	-	NC_000010.11:g.68645307G>C	gnomAD
TET1	Q8NFU7	p.Ile862Thr	rs1378554181	missense variant	-	NC_000010.11:g.68645314T>C	gnomAD
TET1	Q8NFU7	p.Ile862Met	rs555162188	missense variant	-	NC_000010.11:g.68645315A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro863Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645316C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro863Leu	rs748110423	missense variant	-	NC_000010.11:g.68645317C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro863Arg	rs748110423	missense variant	-	NC_000010.11:g.68645317C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser864Asn	rs1208117050	missense variant	-	NC_000010.11:g.68645320G>A	gnomAD
TET1	Q8NFU7	p.Lys865Glu	rs1307848459	missense variant	-	NC_000010.11:g.68645322A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Lys865Arg	rs201626139	missense variant	-	NC_000010.11:g.68645323A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys865Thr	COSM3807537	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645323A>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Glu866Gly	rs777556549	missense variant	-	NC_000010.11:g.68645326A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asp869Tyr	rs1184220731	missense variant	-	NC_000010.11:g.68645334G>T	TOPMed
TET1	Q8NFU7	p.Val873Phe	rs199844508	missense variant	-	NC_000010.11:g.68645346G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val873Ile	rs199844508	missense variant	-	NC_000010.11:g.68645346G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser876Arg	rs1180618389	missense variant	-	NC_000010.11:g.68645357T>G	gnomAD
TET1	Q8NFU7	p.Leu877Ile	rs1264547810	missense variant	-	NC_000010.11:g.68645358C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Leu877Ile	rs1264547810	missense variant	-	NC_000010.11:g.68645358C>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu878Val	rs1450452283	missense variant	-	NC_000010.11:g.68645361T>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Ser879Leu	rs771580099	missense variant	-	NC_000010.11:g.68645365C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser879Pro	rs1362146784	missense variant	-	NC_000010.11:g.68645364T>C	TOPMed
TET1	Q8NFU7	p.Met881Val	rs764721765	missense variant	-	NC_000010.11:g.68645370A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Met881Val	rs764721765	missense variant	-	NC_000010.11:g.68645370A>G	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asp883Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645376G>T	NCI-TCGA
TET1	Q8NFU7	p.Asp883His	rs1174505520	missense variant	-	NC_000010.11:g.68645376G>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Asp883Asn	rs1174505520	missense variant	-	NC_000010.11:g.68645376G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Asp883Gly	rs145047656	missense variant	-	NC_000010.11:g.68645377A>G	ESP,TOPMed
TET1	Q8NFU7	p.Arg884Gly	rs1271483060	missense variant	-	NC_000010.11:g.68645379A>G	TOPMed
TET1	Q8NFU7	p.Arg885Ile	rs754279035	missense variant	-	NC_000010.11:g.68645383G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr887Arg	rs1056932913	missense variant	-	NC_000010.11:g.68645389C>G	TOPMed
TET1	Q8NFU7	p.Leu888Trp	rs762278729	missense variant	-	NC_000010.11:g.68645392T>G	ExAC,TOPMed
TET1	Q8NFU7	p.Leu888Ser	rs762278729	missense variant	-	NC_000010.11:g.68645392T>C	ExAC,TOPMed
TET1	Q8NFU7	p.Val891Leu	rs750700067	missense variant	-	NC_000010.11:g.68645400G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val891Leu	COSM4852093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645400G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val892Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645403G>A	NCI-TCGA
TET1	Q8NFU7	p.Val892Ala	rs780287566	missense variant	-	NC_000010.11:g.68645404T>C	NCI-TCGA
TET1	Q8NFU7	p.Val892Leu	rs758638901	missense variant	-	NC_000010.11:g.68645403G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Val892Ala	rs780287566	missense variant	-	NC_000010.11:g.68645404T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val892Gly	rs780287566	missense variant	-	NC_000010.11:g.68645404T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile894Val	rs1366020378	missense variant	-	NC_000010.11:g.68645409A>G	TOPMed
TET1	Q8NFU7	p.Ala896Asp	rs1167876385	missense variant	-	NC_000010.11:g.68645416C>A	TOPMed
TET1	Q8NFU7	p.Ala896Val	COSM3439895	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645416C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser901Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645431C>T	NCI-TCGA
TET1	Q8NFU7	p.Ala903Val	rs1169743622	missense variant	-	NC_000010.11:g.68645437C>T	TOPMed
TET1	Q8NFU7	p.Ala903Thr	rs1262979953	missense variant	-	NC_000010.11:g.68645436G>A	gnomAD
TET1	Q8NFU7	p.Pro904Ser	rs1465708998	missense variant	-	NC_000010.11:g.68645439C>T	gnomAD
TET1	Q8NFU7	p.Pro904Ser	rs1465708998	missense variant	-	NC_000010.11:g.68645439C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Glu906Asp	rs749136636	missense variant	-	NC_000010.11:g.68645447G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Glu906Asp	rs749136636	missense variant	-	NC_000010.11:g.68645447G>T	NCI-TCGA
TET1	Q8NFU7	p.Asn907Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645449A>G	NCI-TCGA
TET1	Q8NFU7	p.Ser909Pro	rs770781811	missense variant	-	NC_000010.11:g.68645454T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys912Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645465G>T	NCI-TCGA
TET1	Q8NFU7	p.Glu914Asp	COSM685568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645471G>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys915Asn	rs1270105441	missense variant	-	NC_000010.11:g.68645474G>C	TOPMed
TET1	Q8NFU7	p.Lys915Glu	rs960765137	missense variant	-	NC_000010.11:g.68645472A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Asp916Val	rs1205050983	missense variant	-	NC_000010.11:g.68645476A>T	TOPMed
TET1	Q8NFU7	p.Glu917Lys	rs1431481634	missense variant	-	NC_000010.11:g.68645478G>A	gnomAD
TET1	Q8NFU7	p.Glu917Asp	rs12241767	missense variant	-	NC_000010.11:g.68645480G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln921Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645490C>A	NCI-TCGA
TET1	Q8NFU7	p.Thr923Ile	rs201601232	missense variant	-	NC_000010.11:g.68645497C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr923Pro	rs1389498068	missense variant	-	NC_000010.11:g.68645496A>C	gnomAD
TET1	Q8NFU7	p.Ser925Ile	rs1041429101	missense variant	-	NC_000010.11:g.68645503G>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Leu926Trp	rs1318465923	missense variant	-	NC_000010.11:g.68645506T>G	gnomAD
TET1	Q8NFU7	p.Leu927Pro	rs1272700233	missense variant	-	NC_000010.11:g.68645509T>C	TOPMed
TET1	Q8NFU7	p.Asn928Ser	rs775113262	missense variant	-	NC_000010.11:g.68645512A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser929Arg	rs1345875157	missense variant	-	NC_000010.11:g.68645516C>A	TOPMed
TET1	Q8NFU7	p.Ser929Thr	rs1441440122	missense variant	-	NC_000010.11:g.68645515G>C	gnomAD
TET1	Q8NFU7	p.Cys930Gly	rs1307233394	missense variant	-	NC_000010.11:g.68645517T>G	TOPMed
TET1	Q8NFU7	p.Ile933Met	rs1273853414	missense variant	-	NC_000010.11:g.68645528C>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Tyr935Cys	rs367630351	missense variant	-	NC_000010.11:g.68645533A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr936Ala	rs1330901615	missense variant	-	NC_000010.11:g.68645535A>G	TOPMed
TET1	Q8NFU7	p.Arg938Gly	rs777226839	missense variant	-	NC_000010.11:g.68645541A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Arg938Thr	rs762181670	missense variant	-	NC_000010.11:g.68645542G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln942Arg	rs1470091358	missense variant	-	NC_000010.11:g.68645554A>G	gnomAD
TET1	Q8NFU7	p.Asp943His	rs773647493	missense variant	-	NC_000010.11:g.68645556G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asp943Asn	rs773647493	missense variant	-	NC_000010.11:g.68645556G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn945Lys	rs763408006	missense variant	-	NC_000010.11:g.68645564C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln947Glu	rs1053985159	missense variant	-	NC_000010.11:g.68645568C>G	TOPMed
TET1	Q8NFU7	p.Pro951Thr	rs751796703	missense variant	-	NC_000010.11:g.68645580C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro951Ser	rs751796703	missense variant	-	NC_000010.11:g.68645580C>T	ExAC,gnomAD
TET1	Q8NFU7	p.His955Gln	rs767442830	missense variant	-	NC_000010.11:g.68645594C>G	ExAC,gnomAD
TET1	Q8NFU7	p.His955Pro	rs1412712898	missense variant	-	NC_000010.11:g.68645593A>C	gnomAD
TET1	Q8NFU7	p.Leu959Val	rs757074739	missense variant	-	NC_000010.11:g.68645604T>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ser963Ile	rs778816209	missense variant	-	NC_000010.11:g.68645617G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Cys965Gly	rs1322597846	missense variant	-	NC_000010.11:g.68645622T>G	gnomAD
TET1	Q8NFU7	p.Asn966Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645626A>T	NCI-TCGA
TET1	Q8NFU7	p.Thr967Met	rs368590656	missense variant	-	NC_000010.11:g.68645629C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn971Ser	rs376744298	missense variant	-	NC_000010.11:g.68645641A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly972Trp	rs746603164	missense variant	-	NC_000010.11:g.68645643G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr974Asn	rs1226096019	missense variant	-	NC_000010.11:g.68645650C>A	gnomAD
TET1	Q8NFU7	p.Leu977Phe	COSM1348710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645658C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser978Phe	rs775949171	missense variant	-	NC_000010.11:g.68645662C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser978Cys	COSM323786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645662C>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser980Pro	rs531684841	missense variant	-	NC_000010.11:g.68645667T>C	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Ser980Leu	COSM4823405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645668C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.His981Arg	rs780148134	missense variant	-	NC_000010.11:g.68645671A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile982Val	rs1206884294	missense variant	-	NC_000010.11:g.68645673A>G	gnomAD
TET1	Q8NFU7	p.Ile982Thr	rs1252881820	missense variant	-	NC_000010.11:g.68645674T>C	gnomAD
TET1	Q8NFU7	p.Ser984Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645680C>T	NCI-TCGA
TET1	Q8NFU7	p.Ala985Ser	rs74412312	missense variant	-	NC_000010.11:g.68645682G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn987Lys	rs774651932	missense variant	-	NC_000010.11:g.68645690C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln988Arg	rs754559479	missense variant	-	NC_000010.11:g.68645692A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ala989Thr	rs767638652	missense variant	-	NC_000010.11:g.68645694G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser990Pro	rs756171978	missense variant	-	NC_000010.11:g.68645697T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr991Lys	COSM271701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645701C>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys992ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68645702_68645703AA>-	NCI-TCGA
TET1	Q8NFU7	p.His994Arg	rs1369608471	missense variant	-	NC_000010.11:g.68645710A>G	gnomAD
TET1	Q8NFU7	p.Glu995Asp	rs141982595	missense variant	-	NC_000010.11:g.68645714A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu1005Ile	rs779775444	missense variant	-	NC_000010.11:g.68645742C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Leu1005Val	COSM3790897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645742C>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro1008Ala	rs754524291	missense variant	-	NC_000010.11:g.68645751C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1009Thr	rs780895678	missense variant	-	NC_000010.11:g.68645755A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1010Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68645758C>G	NCI-TCGA
TET1	Q8NFU7	p.Ser1010Leu	rs747672308	missense variant	-	NC_000010.11:g.68645758C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1012Leu	rs1275579597	missense variant	-	NC_000010.11:g.68645764C>T	gnomAD
TET1	Q8NFU7	p.Ser1013Phe	rs369726331	missense variant	-	NC_000010.11:g.68645767C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1015Thr	rs1282487969	missense variant	-	NC_000010.11:g.68645773T>C	gnomAD
TET1	Q8NFU7	p.Ile1015Phe	rs527450173	missense variant	-	NC_000010.11:g.68645772A>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1018Ser	rs16925541	missense variant	-	NC_000010.11:g.68645782A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1018Ser	rs16925541	missense variant	-	NC_000010.11:g.68645782A>G	UniProt,dbSNP
TET1	Q8NFU7	p.Asn1018Ser	VAR_027737	missense variant	-	NC_000010.11:g.68645782A>G	UniProt
TET1	Q8NFU7	p.Asn1018Lys	rs1178253088	missense variant	-	NC_000010.11:g.68645783T>A	TOPMed
TET1	Q8NFU7	p.Lys1019Arg	rs139509386	missense variant	-	NC_000010.11:g.68645785A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1019Glu	rs72799515	missense variant	-	NC_000010.11:g.68645784A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1020Ile	rs772240396	missense variant	-	NC_000010.11:g.68645788G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1020Asn	rs772240396	missense variant	-	NC_000010.11:g.68645788G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1020Thr	rs772240396	missense variant	-	NC_000010.11:g.68645788G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1020Cys	rs1188922908	missense variant	-	NC_000010.11:g.68645787A>T	gnomAD
TET1	Q8NFU7	p.Ile1021Met	rs1206506914	missense variant	-	NC_000010.11:g.68645792T>G	TOPMed
TET1	Q8NFU7	p.Ile1021Thr	rs775756548	missense variant	-	NC_000010.11:g.68645791T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1022Ser	rs1175135226	missense variant	-	NC_000010.11:g.68645793G>T	gnomAD
TET1	Q8NFU7	p.Ala1022Thr	rs1175135226	missense variant	-	NC_000010.11:g.68645793G>A	gnomAD
TET1	Q8NFU7	p.Gly1024Arg	rs1402287859	missense variant	-	NC_000010.11:g.68645799G>A	gnomAD
TET1	Q8NFU7	p.Thr1027Ile	rs760786464	missense variant	-	NC_000010.11:g.68645809C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu1028Val	rs764120752	missense variant	-	NC_000010.11:g.68645811C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Leu1028His	COSM919770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645812T>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn1030Ser	rs762819840	missense variant	-	NC_000010.11:g.68645818A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1030His	rs750382805	missense variant	-	NC_000010.11:g.68645817A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Cys1031Arg	rs1346578352	missense variant	-	NC_000010.11:g.68645820T>C	TOPMed,gnomAD
TET1	Q8NFU7	p.His1036Arg	rs766203888	missense variant	-	NC_000010.11:g.68645836A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gln1037Arg	rs1364937733	missense variant	-	NC_000010.11:g.68645839A>G	gnomAD
TET1	Q8NFU7	p.Leu1038Phe	rs751380533	missense variant	-	NC_000010.11:g.68645843G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1039Ser	rs1312926475	missense variant	-	NC_000010.11:g.68645844C>T	TOPMed
TET1	Q8NFU7	p.Pro1040Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645848C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro1040Ser	COSM1317440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68645847C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn1042Ser	rs917112269	missense variant	-	NC_000010.11:g.68645854A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1043Ser	rs1345783470	missense variant	-	NC_000010.11:g.68645857A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1044Gln	rs147552850	missense variant	-	NC_000010.11:g.68645859G>C	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1044Lys	rs147552850	missense variant	-	NC_000010.11:g.68645859G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1045Met	rs752354134	missense variant	-	NC_000010.11:g.68645862G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Glu1046Asp	rs1209292552	missense variant	-	NC_000010.11:g.68645867G>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Cys1048Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68645873C>A	NCI-TCGA
TET1	Q8NFU7	p.Asn1049Ser	rs1447505173	missense variant	-	NC_000010.11:g.68645875A>G	gnomAD
TET1	Q8NFU7	p.Asn1049Lys	rs542316647	missense variant	-	NC_000010.11:g.68645876C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gln1050Ter	rs1433357245	stop gained	-	NC_000010.11:g.68645877C>T	gnomAD
TET1	Q8NFU7	p.Leu1051Phe	rs749816952	missense variant	-	NC_000010.11:g.68645882A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1054Asn	rs771632357	missense variant	-	NC_000010.11:g.68645890G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1054Arg	rs779460953	missense variant	-	NC_000010.11:g.68645891C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1057AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68645895A>-	NCI-TCGA
TET1	Q8NFU7	p.Leu1058Phe	rs746265860	missense variant	-	NC_000010.11:g.68645903G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asp1059Asn	rs1459229600	missense variant	-	NC_000010.11:g.68645904G>A	gnomAD
TET1	Q8NFU7	p.Asp1061Gly	rs1246924971	missense variant	-	NC_000010.11:g.68645911A>G	TOPMed
TET1	Q8NFU7	p.Asp1062Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645913G>A	NCI-TCGA
TET1	Q8NFU7	p.Ser1064Pro	rs1321809694	missense variant	-	NC_000010.11:g.68645919T>C	gnomAD
TET1	Q8NFU7	p.Cys1065Arg	rs1388351088	missense variant	-	NC_000010.11:g.68645922T>C	gnomAD
TET1	Q8NFU7	p.Asp1067His	rs1433415202	missense variant	-	NC_000010.11:g.68645928G>C	gnomAD
TET1	Q8NFU7	p.Ala1068Ser	rs772453601	missense variant	-	NC_000010.11:g.68645931G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1068Thr	rs772453601	missense variant	-	NC_000010.11:g.68645931G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1068Val	rs375890512	missense variant	-	NC_000010.11:g.68645932C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1069Asn	rs773683265	missense variant	-	NC_000010.11:g.68645935C>A	gnomAD
TET1	Q8NFU7	p.Thr1069Ile	rs773683265	missense variant	-	NC_000010.11:g.68645935C>T	gnomAD
TET1	Q8NFU7	p.Thr1069Ser	rs768736308	missense variant	-	NC_000010.11:g.68645934A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Gln1072His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68645945A>C	NCI-TCGA
TET1	Q8NFU7	p.Gln1072Lys	rs761880258	missense variant	-	NC_000010.11:g.68645943C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1075Asp	rs766288443	missense variant	-	NC_000010.11:g.68645954A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1077Phe	rs751494650	missense variant	-	NC_000010.11:g.68645958G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Val1077Ile	rs751494650	missense variant	-	NC_000010.11:g.68645958G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Thr1079Ala	rs148616666	missense variant	-	NC_000010.11:g.68645964A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln1080Glu	rs1196317399	missense variant	-	NC_000010.11:g.68645967C>G	gnomAD
TET1	Q8NFU7	p.Leu1084Phe	rs1364952858	missense variant	-	NC_000010.11:g.68645979C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1088Met	rs755756451	missense variant	-	NC_000010.11:g.68645993T>G	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1089Asn	rs370462813	missense variant	-	NC_000010.11:g.68645996G>C	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1090Thr	rs199803468	missense variant	-	NC_000010.11:g.68645998T>C	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Ile1090Asn	rs199803468	missense variant	-	NC_000010.11:g.68645998T>A	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Asn1091His	rs746346894	missense variant	-	NC_000010.11:g.68646000A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Tyr1092Cys	rs569630690	missense variant	-	NC_000010.11:g.68646004A>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Lys1094Gln	rs1289749968	missense variant	-	NC_000010.11:g.68646009A>C	TOPMed
TET1	Q8NFU7	p.Pro1095Leu	rs780408777	missense variant	-	NC_000010.11:g.68646013C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1095Ser	rs1386363151	missense variant	-	NC_000010.11:g.68646012C>T	gnomAD
TET1	Q8NFU7	p.Glu1096Ala	rs747237722	missense variant	-	NC_000010.11:g.68646016A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1096Gln	COSM1505866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646015G>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asp1097His	rs1364161557	missense variant	-	NC_000010.11:g.68646018G>C	TOPMed
TET1	Q8NFU7	p.Lys1099Asn	rs776824062	missense variant	-	NC_000010.11:g.68646026A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1099Asn	rs776824062	missense variant	-	NC_000010.11:g.68646026A>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1099Thr	rs377753307	missense variant	-	NC_000010.11:g.68646025A>C	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1100LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68646021A>-	NCI-TCGA
TET1	Q8NFU7	p.Val1100Ala	rs1388958746	missense variant	-	NC_000010.11:g.68646028T>C	TOPMed
TET1	Q8NFU7	p.Ser1102Arg	rs1246929477	missense variant	-	NC_000010.11:g.68646035T>A	gnomAD
TET1	Q8NFU7	p.Thr1103Ile	rs769875993	missense variant	-	NC_000010.11:g.68646037C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr1103Lys	rs769875993	missense variant	-	NC_000010.11:g.68646037C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1104Ser	rs774175425	missense variant	-	NC_000010.11:g.68646039C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1104Thr	rs774175425	missense variant	-	NC_000010.11:g.68646039C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1108Ile	rs1207691438	missense variant	-	NC_000010.11:g.68646051G>A	gnomAD
TET1	Q8NFU7	p.Thr1109Ile	rs1419801430	missense variant	-	NC_000010.11:g.68646055C>T	TOPMed
TET1	Q8NFU7	p.Thr1109Pro	rs759456837	missense variant	-	NC_000010.11:g.68646054A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1109Ser	rs759456837	missense variant	-	NC_000010.11:g.68646054A>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1111Lys	rs775491775	missense variant	-	NC_000010.11:g.68646062T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1112Ile	rs1489796126	missense variant	-	NC_000010.11:g.68646063G>A	TOPMed
TET1	Q8NFU7	p.Gln1113Pro	rs1249017479	missense variant	-	NC_000010.11:g.68646067A>C	gnomAD
TET1	Q8NFU7	p.Gln1113Ter	COSM1348711	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68646066C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn1117Asp	rs753508495	missense variant	-	NC_000010.11:g.68646078A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1117Ser	rs756749901	missense variant	-	NC_000010.11:g.68646079A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1117Lys	rs1270837763	missense variant	-	NC_000010.11:g.68646080T>G	TOPMed
TET1	Q8NFU7	p.Glu1119Gln	rs750907944	missense variant	-	NC_000010.11:g.68646084G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1120Asn	rs758874383	missense variant	-	NC_000010.11:g.68646089G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1121Cys	rs368453444	missense variant	-	NC_000010.11:g.68646090G>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1121Ser	rs368453444	missense variant	-	NC_000010.11:g.68646090G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1122Ile	rs1348718356	missense variant	-	NC_000010.11:g.68646094C>T	gnomAD
TET1	Q8NFU7	p.Thr1122Ala	rs747436142	missense variant	-	NC_000010.11:g.68646093A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1123Val	rs1397637603	missense variant	-	NC_000010.11:g.68646096A>G	gnomAD
TET1	Q8NFU7	p.Ile1123Met	rs3998860	missense variant	-	NC_000010.11:g.68646098A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1123Met	rs3998860	missense variant	-	NC_000010.11:g.68646098A>G	UniProt,dbSNP
TET1	Q8NFU7	p.Ile1123Met	VAR_027738	missense variant	-	NC_000010.11:g.68646098A>G	UniProt
TET1	Q8NFU7	p.Gln1124His	rs1339636002	missense variant	-	NC_000010.11:g.68646101A>C	gnomAD
TET1	Q8NFU7	p.Gln1125His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646104G>C	NCI-TCGA
TET1	Q8NFU7	p.Pro1127Ser	COSM3439899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646108C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro1128His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646112C>A	NCI-TCGA
TET1	Q8NFU7	p.Ser1129Pro	rs1342380691	missense variant	-	NC_000010.11:g.68646114T>C	gnomAD
TET1	Q8NFU7	p.Ser1129Leu	rs1218929691	missense variant	-	NC_000010.11:g.68646115C>T	TOPMed
TET1	Q8NFU7	p.His1132Arg	rs924248684	missense variant	-	NC_000010.11:g.68646124A>G	gnomAD
TET1	Q8NFU7	p.His1132Tyr	rs1204024569	missense variant	-	NC_000010.11:g.68646123C>T	gnomAD
TET1	Q8NFU7	p.His1132Pro	rs924248684	missense variant	-	NC_000010.11:g.68646124A>C	gnomAD
TET1	Q8NFU7	p.Asn1133Ser	rs748349829	missense variant	-	NC_000010.11:g.68646127A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1133Asp	rs1483986122	missense variant	-	NC_000010.11:g.68646126A>G	gnomAD
TET1	Q8NFU7	p.Asn1134Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646130A>T	NCI-TCGA
TET1	Q8NFU7	p.His1135Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646132C>T	NCI-TCGA
TET1	Q8NFU7	p.His1135Arg	rs769774562	missense variant	-	NC_000010.11:g.68646133A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1140Lys	rs1295885705	missense variant	-	NC_000010.11:g.68646148C>A	TOPMed
TET1	Q8NFU7	p.Lys1141Glu	rs578122005	missense variant	-	NC_000010.11:g.68646150A>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Lys1141Gln	rs578122005	missense variant	-	NC_000010.11:g.68646150A>C	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Lys1143Asn	rs1430579993	missense variant	-	NC_000010.11:g.68646158G>T	gnomAD
TET1	Q8NFU7	p.Thr1146Ala	rs760585078	missense variant	-	NC_000010.11:g.68646165A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1148Gln	rs763939594	missense variant	-	NC_000010.11:g.68646171A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1149Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646175A>G	NCI-TCGA
TET1	Q8NFU7	p.Thr1150Lys	rs1401364774	missense variant	-	NC_000010.11:g.68646178C>A	gnomAD
TET1	Q8NFU7	p.Thr1150Ala	rs1303331451	missense variant	-	NC_000010.11:g.68646177A>G	gnomAD
TET1	Q8NFU7	p.Lys1151Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646180A>C	NCI-TCGA
TET1	Q8NFU7	p.Ser1152Pro	rs1337667597	missense variant	-	NC_000010.11:g.68646183T>C	TOPMed
TET1	Q8NFU7	p.Ser1155Leu	rs1299478920	missense variant	-	NC_000010.11:g.68646193C>T	gnomAD
TET1	Q8NFU7	p.Asp1157Asn	rs761473647	missense variant	-	NC_000010.11:g.68646198G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Asp1157Glu	rs765328003	missense variant	-	NC_000010.11:g.68646200T>G	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1158Gln	rs200333871	missense variant	-	NC_000010.11:g.68646202G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1158Gly	rs370887665	missense variant	-	NC_000010.11:g.68646201C>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1158Leu	rs200333871	missense variant	-	NC_000010.11:g.68646202G>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1158Trp	rs370887665	missense variant	-	NC_000010.11:g.68646201C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1158Gln	rs200333871	missense variant	-	NC_000010.11:g.68646202G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg1158Trp	rs370887665	missense variant	-	NC_000010.11:g.68646201C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg1159Gln	rs140289196	missense variant	-	NC_000010.11:g.68646205G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1159Gln	rs140289196	missense variant	-	NC_000010.11:g.68646205G>A	NCI-TCGA
TET1	Q8NFU7	p.Arg1159Trp	rs752034407	missense variant	-	NC_000010.11:g.68646204C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1159Trp	rs752034407	missense variant	-	NC_000010.11:g.68646204C>T	NCI-TCGA
TET1	Q8NFU7	p.Lys1160Ter	rs1481656731	stop gained	-	NC_000010.11:g.68646207A>T	TOPMed
TET1	Q8NFU7	p.Lys1160Ile	rs1252016204	missense variant	-	NC_000010.11:g.68646208A>T	TOPMed
TET1	Q8NFU7	p.Thr1164Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646220C>T	NCI-TCGA
TET1	Q8NFU7	p.Val1165Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646223T>A	NCI-TCGA
TET1	Q8NFU7	p.Val1165Ala	rs781475822	missense variant	-	NC_000010.11:g.68646223T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Val1166Ile	rs752863361	missense variant	-	NC_000010.11:g.68646225G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1167Asn	rs1450550822	missense variant	-	NC_000010.11:g.68646229G>A	gnomAD
TET1	Q8NFU7	p.Gln1169His	rs777844548	missense variant	-	NC_000010.11:g.68646236A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Gln1169Arg	rs756422497	missense variant	-	NC_000010.11:g.68646235A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1170Gln	rs534391871	missense variant	-	NC_000010.11:g.68646237G>C	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1171Ser	rs771101230	missense variant	-	NC_000010.11:g.68646241A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asp1172Asn	rs780170653	missense variant	-	NC_000010.11:g.68646243G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Asp1172His	rs780170653	missense variant	-	NC_000010.11:g.68646243G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1173Trp	rs1006076006	missense variant	-	NC_000010.11:g.68646246C>T	TOPMed
TET1	Q8NFU7	p.Arg1173Leu	rs768586634	missense variant	-	NC_000010.11:g.68646247G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1173Gln	rs768586634	missense variant	-	NC_000010.11:g.68646247G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1175Arg	rs1389084682	missense variant	-	NC_000010.11:g.68646253A>G	gnomAD
TET1	Q8NFU7	p.Glu1177Gln	rs769552009	missense variant	-	NC_000010.11:g.68646258G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1178Thr	COSM4015291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646262A>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser1180Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646268C>T	NCI-TCGA
TET1	Q8NFU7	p.Tyr1181Cys	rs1446160775	missense variant	-	NC_000010.11:g.68646271A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Met1182Arg	rs772721863	missense variant	-	NC_000010.11:g.68646274T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Met1182Val	rs1369233303	missense variant	-	NC_000010.11:g.68646273A>G	gnomAD
TET1	Q8NFU7	p.Met1182Thr	rs772721863	missense variant	-	NC_000010.11:g.68646274T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Tyr1183Cys	COSM685566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646277A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Cys1187Gly	rs1301782624	missense variant	-	NC_000010.11:g.68646288T>G	TOPMed
TET1	Q8NFU7	p.Asp1188Asn	rs199726871	missense variant	-	NC_000010.11:g.68646291G>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1191Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646301T>C	NCI-TCGA
TET1	Q8NFU7	p.Ile1191Leu	COSM919774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646300A>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala1192Thr	rs1222214017	missense variant	-	NC_000010.11:g.68646303G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1192Pro	rs1222214017	missense variant	-	NC_000010.11:g.68646303G>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1193Leu	rs768003838	missense variant	-	NC_000010.11:g.68646307C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1194Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646309A>G	NCI-TCGA
TET1	Q8NFU7	p.Lys1194Arg	rs1183864910	missense variant	-	NC_000010.11:g.68646310A>G	TOPMed
TET1	Q8NFU7	p.Phe1195Leu	rs756411103	missense variant	-	NC_000010.11:g.68646312T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Gln1196Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646315C>G	NCI-TCGA
TET1	Q8NFU7	p.Phe1198Leu	rs1489557539	missense variant	-	NC_000010.11:g.68646323T>G	gnomAD
TET1	Q8NFU7	p.Gln1200Glu	rs778097495	missense variant	-	NC_000010.11:g.68646327C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1203Leu	rs1424545277	missense variant	-	NC_000010.11:g.68646337C>T	gnomAD
TET1	Q8NFU7	p.Pro1203Ser	rs1419622422	missense variant	-	NC_000010.11:g.68646336C>T	TOPMed
TET1	Q8NFU7	p.His1204Asn	rs1161258020	missense variant	-	NC_000010.11:g.68646339C>A	gnomAD
TET1	Q8NFU7	p.Phe1206Leu	rs757434667	missense variant	-	NC_000010.11:g.68646347T>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1207Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646349C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro1207Thr	rs560446161	missense variant	-	NC_000010.11:g.68646348C>A	gnomAD
TET1	Q8NFU7	p.Thr1208Ile	rs1351417056	missense variant	-	NC_000010.11:g.68646352C>T	gnomAD
TET1	Q8NFU7	p.Thr1208Ala	rs746949364	missense variant	-	NC_000010.11:g.68646351A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gly1211ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68646360_68646361insT	NCI-TCGA
TET1	Q8NFU7	p.Ile1213Phe	rs1436667872	missense variant	-	NC_000010.11:g.68646366A>T	gnomAD
TET1	Q8NFU7	p.Ser1215Pro	rs768780741	missense variant	-	NC_000010.11:g.68646372T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1216Leu	rs780978887	missense variant	-	NC_000010.11:g.68646376C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Trp1220Arg	rs762532408	missense variant	-	NC_000010.11:g.68646387T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1221Thr	rs1330370127	missense variant	-	NC_000010.11:g.68646391A>C	gnomAD
TET1	Q8NFU7	p.Pro1222Ser	rs770429252	missense variant	-	NC_000010.11:g.68646393C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Leu1223Val	rs1282517618	missense variant	-	NC_000010.11:g.68646396C>G	gnomAD
TET1	Q8NFU7	p.Thr1226Met	rs773912826	missense variant	-	NC_000010.11:g.68646406C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1226Arg	rs773912826	missense variant	-	NC_000010.11:g.68646406C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1227Gly	rs761130450	missense variant	-	NC_000010.11:g.68646408A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ile1229Val	rs1259393330	missense variant	-	NC_000010.11:g.68646414A>G	TOPMed
TET1	Q8NFU7	p.Ile1229Met	rs757489971	missense variant	-	NC_000010.11:g.68646416T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1229Thr	rs754104880	missense variant	-	NC_000010.11:g.68646415T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Met1230Val	rs765552539	missense variant	-	NC_000010.11:g.68646417A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1232Ser	rs750589536	missense variant	-	NC_000010.11:g.68646423C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1233Gln	rs935789803	missense variant	-	NC_000010.11:g.68646426A>C	TOPMed
TET1	Q8NFU7	p.Val1235Leu	rs140573369	missense variant	-	NC_000010.11:g.68646432G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1238Ser	rs1405795758	missense variant	-	NC_000010.11:g.68646441C>T	gnomAD
TET1	Q8NFU7	p.Gln1245Arg	rs1163601769	missense variant	-	NC_000010.11:g.68646463A>G	gnomAD
TET1	Q8NFU7	p.Gln1245His	COSM4015293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646464G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Glu1249Asp	rs781235061	missense variant	-	NC_000010.11:g.68646476A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Ala1251Thr	rs1308057153	missense variant	-	NC_000010.11:g.68646480G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1252Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646484A>T	NCI-TCGA
TET1	Q8NFU7	p.Lys1254Asn	rs755962320	missense variant	-	NC_000010.11:g.68646491G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1255Met	rs777362644	missense variant	-	NC_000010.11:g.68646492G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1256Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646497G>T	NCI-TCGA
TET1	Q8NFU7	p.Val1257Phe	rs935570059	missense variant	-	NC_000010.11:g.68646498G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val1257Phe	rs935570059	missense variant	-	NC_000010.11:g.68646498G>T	gnomAD
TET1	Q8NFU7	p.Val1257Asp	rs575980151	missense variant	-	NC_000010.11:g.68646499T>A	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Val1257Ile	rs935570059	missense variant	-	NC_000010.11:g.68646498G>A	gnomAD
TET1	Q8NFU7	p.Glu1258Lys	rs1161653280	missense variant	-	NC_000010.11:g.68646501G>A	TOPMed
TET1	Q8NFU7	p.Asp1261Asn	rs773967605	missense variant	-	NC_000010.11:g.68646510G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Leu1263His	rs771441340	missense variant	-	NC_000010.11:g.68646517T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Leu1265Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68646523T>A	NCI-TCGA
TET1	Q8NFU7	p.Phe1266Ser	rs1446664258	missense variant	-	NC_000010.11:g.68646526T>C	TOPMed
TET1	Q8NFU7	p.His1267Tyr	rs1472984119	missense variant	-	NC_000010.11:g.68646528C>T	gnomAD
TET1	Q8NFU7	p.His1267Arg	rs764524560	missense variant	-	NC_000010.11:g.68646529A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1269Asn	rs150692118	missense variant	-	NC_000010.11:g.68646536A>C	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1270Met	rs762257556	missense variant	-	NC_000010.11:g.68646538C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1272Pro	rs750644966	missense variant	-	NC_000010.11:g.68646543T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1273Ser	rs758583829	missense variant	-	NC_000010.11:g.68646547A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1273Thr	rs758583829	missense variant	-	NC_000010.11:g.68646547A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1273Lys	rs755989600	missense variant	-	NC_000010.11:g.68646548C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gly1274Trp	rs752696543	missense variant	-	NC_000010.11:g.68646549G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1274Arg	rs752696543	missense variant	-	NC_000010.11:g.68646549G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1274Trp	rs752696543	missense variant	-	NC_000010.11:g.68646549G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys1275Met	rs777751079	missense variant	-	NC_000010.11:g.68646553A>T	ExAC
TET1	Q8NFU7	p.Ala1276Thr	rs757013883	missense variant	-	NC_000010.11:g.68646555G>A	NCI-TCGA
TET1	Q8NFU7	p.Ala1276Thr	rs757013883	missense variant	-	NC_000010.11:g.68646555G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Asp1279Gly	rs778566641	missense variant	-	NC_000010.11:g.68646565A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1280Asn	rs745474019	missense variant	-	NC_000010.11:g.68646569A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Ala1281Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646571C>A	NCI-TCGA
TET1	Q8NFU7	p.Ala1281Thr	rs766370975	missense variant	-	NC_000010.11:g.68646570G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1283Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646578T>G	NCI-TCGA
TET1	Q8NFU7	p.Ser1284Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646580C>A	NCI-TCGA
TET1	Q8NFU7	p.Gln1285Glu	COSM4850425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646582C>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu1288Ser	rs1280860456	missense variant	-	NC_000010.11:g.68646592T>C	gnomAD
TET1	Q8NFU7	p.Thr1289Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646594A>C	NCI-TCGA
TET1	Q8NFU7	p.Thr1289Met	rs575341146	missense variant	-	NC_000010.11:g.68646595C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1289Lys	rs575341146	missense variant	-	NC_000010.11:g.68646595C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1289Met	rs575341146	missense variant	-	NC_000010.11:g.68646595C>T	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala1292Val	rs1241035871	missense variant	-	NC_000010.11:g.68646604C>T	gnomAD
TET1	Q8NFU7	p.Gln1294Arg	rs765659978	missense variant	-	NC_000010.11:g.68646610A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gln1294Leu	rs765659978	missense variant	-	NC_000010.11:g.68646610A>T	ExAC,gnomAD
TET1	Q8NFU7	p.His1297Tyr	rs1389826598	missense variant	-	NC_000010.11:g.68646618C>T	TOPMed
TET1	Q8NFU7	p.Leu1299Phe	rs149145995	missense variant	-	NC_000010.11:g.68646626G>C	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln1301Arg	rs766616425	missense variant	-	NC_000010.11:g.68646631A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1302Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646633C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro1302Leu	rs1173773603	missense variant	-	NC_000010.11:g.68646634C>T	gnomAD
TET1	Q8NFU7	p.Ser1303Phe	rs1415474586	missense variant	-	NC_000010.11:g.68646637C>T	gnomAD
TET1	Q8NFU7	p.Pro1306Arg	rs753733293	missense variant	-	NC_000010.11:g.68646646C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1307Lys	rs1437786011	missense variant	-	NC_000010.11:g.68646650C>G	gnomAD
TET1	Q8NFU7	p.Cys1309Trp	rs547546402	missense variant	-	NC_000010.11:g.68646656T>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Asn1311Lys	rs143389125	missense variant	-	NC_000010.11:g.68646662C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1312Met	rs148388844	missense variant	-	NC_000010.11:g.68646663G>A	NCI-TCGA
TET1	Q8NFU7	p.Val1312Met	rs148388844	missense variant	-	NC_000010.11:g.68646663G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1312Leu	rs148388844	missense variant	-	NC_000010.11:g.68646663G>C	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asp1316Asn	rs779743688	missense variant	-	NC_000010.11:g.68646675G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1319Met	rs1261233777	missense variant	-	NC_000010.11:g.68646686A>G	gnomAD
TET1	Q8NFU7	p.Ile1319Thr	rs746552035	missense variant	-	NC_000010.11:g.68646685T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1320Gln	rs781773145	missense variant	-	NC_000010.11:g.68646688G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1320Trp	rs149434944	missense variant	-	NC_000010.11:g.68646687C>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Phe1321Val	rs1444867392	missense variant	-	NC_000010.11:g.68646690T>G	gnomAD
TET1	Q8NFU7	p.Gln1322Ter	COSM1228955	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68646693C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gln1323His	rs1246775341	missense variant	-	NC_000010.11:g.68646698G>C	gnomAD
TET1	Q8NFU7	p.Gln1328Lys	rs538604181	missense variant	-	NC_000010.11:g.68646711C>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln1328Pro	rs1213489904	missense variant	-	NC_000010.11:g.68646712A>C	TOPMed
TET1	Q8NFU7	p.Met1330Thr	rs143318741	missense variant	-	NC_000010.11:g.68646718T>C	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Met1330Arg	rs143318741	missense variant	-	NC_000010.11:g.68646718T>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.His1331Asp	rs552021771	missense variant	-	NC_000010.11:g.68646720C>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Gln1332Glu	rs753786344	missense variant	-	NC_000010.11:g.68646723C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1333Lys	rs147498630	missense variant	-	NC_000010.11:g.68646727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1335Ser	COSM919778	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646732C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu1337Met	rs1344607757	missense variant	-	NC_000010.11:g.68646738T>A	TOPMed
TET1	Q8NFU7	p.Pro1338Leu	rs138486590	missense variant	-	NC_000010.11:g.68646742C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1339Ser	rs1406656777	missense variant	-	NC_000010.11:g.68646744G>A	TOPMed
TET1	Q8NFU7	p.Ile1340Val	rs779614743	missense variant	-	NC_000010.11:g.68646747A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Glu1343Val	rs754471169	missense variant	-	NC_000010.11:g.68646757A>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1343Lys	rs751187726	missense variant	-	NC_000010.11:g.68646756G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Thr1344Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646759A>G	NCI-TCGA
TET1	Q8NFU7	p.Pro1345Thr	rs1348357851	missense variant	-	NC_000010.11:g.68646762C>A	gnomAD
TET1	Q8NFU7	p.Pro1345Leu	rs150543016	missense variant	-	NC_000010.11:g.68646763C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu1346Ser	rs1394508357	missense variant	-	NC_000010.11:g.68646766T>C	TOPMed
TET1	Q8NFU7	p.Pro1347Arg	rs139453548	missense variant	-	NC_000010.11:g.68646769C>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1347Ser	rs778398543	missense variant	-	NC_000010.11:g.68646768C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1347Leu	rs139453548	missense variant	-	NC_000010.11:g.68646769C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1352Ser	rs774457411	missense variant	-	NC_000010.11:g.68646784C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Val1359Glu	rs775612872	missense variant	-	NC_000010.11:g.68646805T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Val1359Leu	rs778533319	missense variant	-	NC_000010.11:g.68646804G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1359Leu	rs778533319	missense variant	-	NC_000010.11:g.68646804G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1362Asp	rs747741400	missense variant	-	NC_000010.11:g.68646814G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1367LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68646822_68646823insCTGTTTTGGGTTGCATAATGGACCTCGTTTGAGC	NCI-TCGA
TET1	Q8NFU7	p.Val1367LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68646826_68646827insTTTG	NCI-TCGA
TET1	Q8NFU7	p.Thr1369Ile	rs1410353581	missense variant	-	NC_000010.11:g.68646835C>T	gnomAD
TET1	Q8NFU7	p.Glu1373Asp	rs1333742353	missense variant	-	NC_000010.11:g.68646848G>C	gnomAD
TET1	Q8NFU7	p.Val1375Ala	COSM273339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646853T>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser1379Gly	rs201386456	missense variant	-	NC_000010.11:g.68646864A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1384Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68646879G>T	NCI-TCGA
TET1	Q8NFU7	p.Thr1387GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68646887_68646888insCAAAT	NCI-TCGA
TET1	Q8NFU7	p.Thr1387IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68646888_68646889insTT	NCI-TCGA
TET1	Q8NFU7	p.Thr1387IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68646888_68646889insTTCTTGTGGCAGAACCAAAAGTTCC	NCI-TCGA
TET1	Q8NFU7	p.Thr1387Ala	rs754614889	missense variant	-	NC_000010.11:g.68646888A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Val1388CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68646889_68646890insTTGTGGCAGAACCAAA	NCI-TCGA
TET1	Q8NFU7	p.Asp1389Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646895A>G	NCI-TCGA
TET1	Q8NFU7	p.Gln1392Arg	rs1483131525	missense variant	-	NC_000010.11:g.68646904A>G	gnomAD
TET1	Q8NFU7	p.Asn1394His	rs752300962	missense variant	-	NC_000010.11:g.68646909A>C	ExAC,TOPMed
TET1	Q8NFU7	p.Asn1394Asp	rs752300962	missense variant	-	NC_000010.11:g.68646909A>G	ExAC,TOPMed
TET1	Q8NFU7	p.Phe1395Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646914T>A	NCI-TCGA
TET1	Q8NFU7	p.Asn1396His	rs755650127	missense variant	-	NC_000010.11:g.68646915A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Met1400Arg	rs144608379	missense variant	-	NC_000010.11:g.68646928T>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Met1400Thr	rs144608379	missense variant	-	NC_000010.11:g.68646928T>C	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1405Lys	rs148470211	missense variant	-	NC_000010.11:g.68646944C>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1406Ser	rs1331004083	missense variant	-	NC_000010.11:g.68646945C>T	TOPMed
TET1	Q8NFU7	p.Thr1407Ala	COSM6066574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68646948A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn1409ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68646950A>-	NCI-TCGA
TET1	Q8NFU7	p.Ser1412Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646964C>A	NCI-TCGA
TET1	Q8NFU7	p.Ile1413Val	rs536548153	missense variant	-	NC_000010.11:g.68646966A>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1413Met	rs747133664	missense variant	-	NC_000010.11:g.68646968A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ile1413Thr	rs140112074	missense variant	-	NC_000010.11:g.68646967T>C	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asp1416Tyr	rs768683199	missense variant	-	NC_000010.11:g.68646975G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1417Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68646979C>A	NCI-TCGA
TET1	Q8NFU7	p.Leu1419Pro	rs1397737608	missense variant	-	NC_000010.11:g.68646985T>C	gnomAD
TET1	Q8NFU7	p.Thr1421Ala	rs144156611	missense variant	-	NC_000010.11:g.68646990A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1423Arg	rs766096309	missense variant	-	NC_000010.11:g.68646998C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1423Arg	rs762892542	missense variant	-	NC_000010.11:g.68646996A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1427Ter	rs868611128	stop gained	-	NC_000010.11:g.68651848C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1427Gln	rs1303423182	missense variant	-	NC_000010.11:g.68651849G>A	gnomAD
TET1	Q8NFU7	p.Arg1427Gly	rs868611128	missense variant	-	NC_000010.11:g.68651848C>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1427Ter	rs868611128	stop gained	-	NC_000010.11:g.68651848C>T	NCI-TCGA
TET1	Q8NFU7	p.Ile1429Thr	COSM3368102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68651855T>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gly1434Val	rs754303695	missense variant	-	NC_000010.11:g.68651870G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1435Leu	rs757849152	missense variant	-	NC_000010.11:g.68651873C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Tyr1436His	rs746280017	missense variant	-	NC_000010.11:g.68651875T>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Tyr1436Asp	rs746280017	missense variant	-	NC_000010.11:g.68651875T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1438Ile	rs1390003346	missense variant	-	NC_000010.11:g.68651882C>T	TOPMed
TET1	Q8NFU7	p.Thr1438Ala	rs1459190501	missense variant	-	NC_000010.11:g.68651881A>G	TOPMed
TET1	Q8NFU7	p.Thr1438Ile	rs1390003346	missense variant	-	NC_000010.11:g.68651882C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.His1439Gln	rs758732313	missense variant	-	NC_000010.11:g.68651886C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Leu1440Phe	COSM3439902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68651887C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala1442Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68651894C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro1444Arg	rs747186393	missense variant	-	NC_000010.11:g.68651900C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1445Asn	rs916364742	missense variant	-	NC_000010.11:g.68651903G>A	TOPMed
TET1	Q8NFU7	p.Ala1448Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68651912C>A	NCI-TCGA
TET1	Q8NFU7	p.Ala1448Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68651912C>T	NCI-TCGA
TET1	Q8NFU7	p.Glu1451Gln	rs1187754339	missense variant	-	NC_000010.11:g.68651920G>C	TOPMed
TET1	Q8NFU7	p.Glu1454Asp	COSM919779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68651931G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Tyr1457Cys	rs750890650	missense variant	-	NC_000010.11:g.68652503A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gln1459Lys	rs758787355	missense variant	-	NC_000010.11:g.68652508C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1461Ala	rs1238309242	missense variant	-	NC_000010.11:g.68652515G>C	TOPMed
TET1	Q8NFU7	p.Ala1463Ser	rs751788677	missense variant	-	NC_000010.11:g.68652520G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ala1463Thr	COSM919780	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68652520G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala1463Ser	rs751788677	missense variant	-	NC_000010.11:g.68652520G>T	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile1464Val	rs1215312388	missense variant	-	NC_000010.11:g.68652523A>G	gnomAD
TET1	Q8NFU7	p.Ile1466Met	rs755298802	missense variant	-	NC_000010.11:g.68652531A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1467Lys	COSM1297383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68652532G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile1468Met	rs1489607704	missense variant	-	NC_000010.11:g.68652537A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Val1470Ala	rs748296471	missense variant	-	NC_000010.11:g.68652542T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Val1470Leu	rs781261477	missense variant	-	NC_000010.11:g.68652541G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Tyr1471Cys	COSM1675307	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68652545A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr1472Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68652548C>G	NCI-TCGA
TET1	Q8NFU7	p.Thr1472Asn	rs376648844	missense variant	-	NC_000010.11:g.68652548C>A	ESP,ExAC,gnomAD
TET1	Q8NFU7	p.Gly1473Ser	rs771994540	missense variant	-	NC_000010.11:g.68652550G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1474Arg	rs775491529	missense variant	-	NC_000010.11:g.68652554A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Glu1475Gln	rs1351215230	missense variant	-	NC_000010.11:g.68652556G>C	gnomAD
TET1	Q8NFU7	p.Ser1479Ala	rs768403517	missense variant	-	NC_000010.11:g.68652568T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.His1480Gln	rs761418568	missense variant	-	NC_000010.11:g.68652573T>G	ExAC,gnomAD
TET1	Q8NFU7	p.His1480Pro	rs776116597	missense variant	-	NC_000010.11:g.68652572A>C	ExAC,gnomAD
TET1	Q8NFU7	p.His1480Tyr	rs1222840301	missense variant	-	NC_000010.11:g.68652571C>T	gnomAD
TET1	Q8NFU7	p.Pro1483Ala	COSM1297384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68652580C>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile1484Phe	rs562629421	missense variant	-	NC_000010.11:g.68652583A>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1484Val	rs562629421	missense variant	-	NC_000010.11:g.68652583A>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1493Gly	rs776369213	missense variant	-	NC_000010.11:g.68667060A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asp1494Val	rs1437098526	missense variant	-	NC_000010.11:g.68667064A>T	gnomAD
TET1	Q8NFU7	p.Glu1495Ter	rs1310386469	stop gained	-	NC_000010.11:g.68667066G>T	TOPMed
TET1	Q8NFU7	p.Leu1499Ile	COSM3415204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68667078C>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gln1504Arg	rs772778761	missense variant	-	NC_000010.11:g.68667094A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1505His	rs1288019869	missense variant	-	NC_000010.11:g.68667097G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg1505His	rs1288019869	missense variant	-	NC_000010.11:g.68667097G>A	TOPMed
TET1	Q8NFU7	p.Arg1505Cys	COSM685562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68667096C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr1506Ile	rs762440589	missense variant	-	NC_000010.11:g.68667100C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1512Ser	rs774794843	missense variant	-	NC_000010.11:g.68667117A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Met1515Thr	rs1409894975	missense variant	-	NC_000010.11:g.68667127T>C	gnomAD
TET1	Q8NFU7	p.Val1517Ala	rs767712815	missense variant	-	NC_000010.11:g.68667133T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Val1517Met	rs1169034139	missense variant	-	NC_000010.11:g.68667132G>A	gnomAD
TET1	Q8NFU7	p.Met1520Thr	rs1336518039	missense variant	-	NC_000010.11:g.68667142T>C	gnomAD
TET1	Q8NFU7	p.Asp1523GlyPheSerTerUnkUnk	COSM919781	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68667151_68667152AT>-	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gly1524Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68667154G>A	NCI-TCGA
TET1	Q8NFU7	p.Ile1525Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68667156A>G	NCI-TCGA
TET1	Q8NFU7	p.Pro1528Leu	rs1309043343	missense variant	-	NC_000010.11:g.68667166C>T	TOPMed
TET1	Q8NFU7	p.Met1529Thr	rs764397228	missense variant	-	NC_000010.11:g.68667169T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Met1529Val	rs899074727	missense variant	-	NC_000010.11:g.68667168A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Asp1531Asn	rs144272090	missense variant	-	NC_000010.11:g.68667174G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1532Trp	rs1241056232	missense variant	-	NC_000010.11:g.68667177C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg1532Gln	rs780172713	missense variant	-	NC_000010.11:g.68667178G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg1532Gln	rs780172713	missense variant	-	NC_000010.11:g.68667178G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1532Trp	rs1241056232	missense variant	-	NC_000010.11:g.68667177C>T	gnomAD
TET1	Q8NFU7	p.Thr1538Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68667195A>C	NCI-TCGA
TET1	Q8NFU7	p.Thr1538Ile	rs1156553899	missense variant	-	NC_000010.11:g.68667196C>T	TOPMed
TET1	Q8NFU7	p.Asn1540Asp	rs989840433	missense variant	-	NC_000010.11:g.68667201A>G	TOPMed
TET1	Q8NFU7	p.Lys1542Asn	rs1474170533	missense variant	-	NC_000010.11:g.68667209G>T	gnomAD
TET1	Q8NFU7	p.His1547Gln	rs968288079	missense variant	-	NC_000010.11:g.68667224C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Asp1550Asn	rs1404366633	missense variant	-	NC_000010.11:g.68667231G>A	gnomAD
TET1	Q8NFU7	p.Thr1554Ile	rs770375775	missense variant	-	NC_000010.11:g.68667244C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr1554Asn	rs770375775	missense variant	-	NC_000010.11:g.68667244C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1559His	rs776044335	missense variant	-	NC_000010.11:g.68672897G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1559Cys	COSM919782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68672896C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gly1565Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68672914G>T	NCI-TCGA
TET1	Q8NFU7	p.Ile1566Val	rs1222366634	missense variant	-	NC_000010.11:g.68672917A>G	gnomAD
TET1	Q8NFU7	p.Glu1569Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68672926G>C	NCI-TCGA
TET1	Q8NFU7	p.Thr1570Ala	rs1426282789	missense variant	-	NC_000010.11:g.68672929A>G	TOPMed
TET1	Q8NFU7	p.Trp1581Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68672963G>A	NCI-TCGA
TET1	Q8NFU7	p.Lys1589Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68672987A>C	NCI-TCGA
TET1	Q8NFU7	p.Gly1591Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68672993G>T	NCI-TCGA
TET1	Q8NFU7	p.Gly1591Cys	rs1424143762	missense variant	-	NC_000010.11:g.68672992G>T	gnomAD
TET1	Q8NFU7	p.Arg1592Lys	rs1301412005	missense variant	-	NC_000010.11:g.68672996G>A	gnomAD
TET1	Q8NFU7	p.Ser1593Asn	COSM6130141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68672999G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro1594Ser	rs1398487509	missense variant	-	NC_000010.11:g.68673001C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1603Ser	COSM268526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68673028C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro1606Thr	rs752626982	missense variant	-	NC_000010.11:g.68673037C>A	ExAC,gnomAD
TET1	Q8NFU7	p.His1608Arg	rs755912455	missense variant	-	NC_000010.11:g.68673044A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1610Arg	rs189954558	missense variant	-	NC_000010.11:g.68681403A>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1611ThrPheSerTerUnkUnk	rs764225020	frameshift	-	NC_000010.11:g.68681400A>-	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asp1614Gly	rs140933489	missense variant	-	NC_000010.11:g.68681415A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu1619Met	rs1204580185	missense variant	-	NC_000010.11:g.68681429T>A	gnomAD
TET1	Q8NFU7	p.Arg1622Gln	rs536711369	missense variant	-	NC_000010.11:g.68681439G>A	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Arg1622Gln	rs536711369	missense variant	-	NC_000010.11:g.68681439G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile1626Val	rs373288968	missense variant	-	NC_000010.11:g.68681450A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln1629Arg	rs773351318	missense variant	-	NC_000010.11:g.68681460A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Tyr1630Phe	rs184022882	missense variant	-	NC_000010.11:g.68681463A>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Tyr1630Cys	rs184022882	missense variant	-	NC_000010.11:g.68681463A>G	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1632Ser	COSM3439903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68681468C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val1633Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68681472T>C	NCI-TCGA
TET1	Q8NFU7	p.Val1633Leu	rs1431270172	missense variant	-	NC_000010.11:g.68681471G>T	gnomAD
TET1	Q8NFU7	p.Gln1636Glu	rs781754078	missense variant	-	NC_000010.11:g.68681480C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gln1636Lys	COSM3439904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68681480C>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val1639Leu	rs1214253206	missense variant	-	NC_000010.11:g.68682836G>C	TOPMed
TET1	Q8NFU7	p.Glu1642Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68682845G>T	NCI-TCGA
TET1	Q8NFU7	p.Val1644Ile	rs758127082	missense variant	-	NC_000010.11:g.68682851G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1646Ter	rs1010032837	stop gained	-	NC_000010.11:g.68682857C>T	TOPMed
TET1	Q8NFU7	p.Arg1646Gln	rs376318364	missense variant	-	NC_000010.11:g.68682858G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1649Gln	rs755430373	missense variant	-	NC_000010.11:g.68682867G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1649Gln	rs755430373	missense variant	-	NC_000010.11:g.68682867G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser1652Arg	rs779431306	missense variant	-	NC_000010.11:g.68682877C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gly1655Val	rs1246294081	missense variant	-	NC_000010.11:g.68682885G>T	TOPMed
TET1	Q8NFU7	p.Arg1656Cys	COSM327330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68682887C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro1657Ser	rs1480014276	missense variant	-	NC_000010.11:g.68682890C>T	gnomAD
TET1	Q8NFU7	p.Val1661Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68682902G>C	NCI-TCGA
TET1	Q8NFU7	p.Ile1675Val	rs1432770444	missense variant	-	NC_000010.11:g.68682944A>G	TOPMed
TET1	Q8NFU7	p.Asn1680Asp	rs1041882192	missense variant	-	NC_000010.11:g.68682959A>G	TOPMed
TET1	Q8NFU7	p.Val1684Met	rs200371130	missense variant	-	NC_000010.11:g.68682971G>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1687Ser	rs760480014	missense variant	-	NC_000010.11:g.68686363C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1689Ala	rs769808628	missense variant	-	NC_000010.11:g.68686368A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1690Ter	rs1349186385	stop gained	-	NC_000010.11:g.68686371C>T	TOPMed
TET1	Q8NFU7	p.Arg1690Gln	rs1333809107	missense variant	-	NC_000010.11:g.68686372G>A	gnomAD
TET1	Q8NFU7	p.Glu1691Lys	rs1338741516	missense variant	-	NC_000010.11:g.68686374G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Asp1692Gly	rs1420167404	missense variant	-	NC_000010.11:g.68686378A>G	TOPMed
TET1	Q8NFU7	p.Asp1692Asn	rs772997622	missense variant	-	NC_000010.11:g.68686377G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1694Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68686383C>T	NCI-TCGA
TET1	Q8NFU7	p.Arg1694His	rs1339691951	missense variant	-	NC_000010.11:g.68686384G>A	gnomAD
TET1	Q8NFU7	p.Arg1694His	rs1339691951	missense variant	-	NC_000010.11:g.68686384G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser1695Pro	rs1188922467	missense variant	-	NC_000010.11:g.68686386T>C	TOPMed
TET1	Q8NFU7	p.Gly1697Ala	rs762825169	missense variant	-	NC_000010.11:g.68686393G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Gly1697Asp	rs762825169	missense variant	-	NC_000010.11:g.68686393G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Gly1697Ser	rs1281698688	missense variant	-	NC_000010.11:g.68686392G>A	gnomAD
TET1	Q8NFU7	p.Val1698Phe	rs770806511	missense variant	-	NC_000010.11:g.68686395G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1698Ile	COSM3439905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686395G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro1700Arg	rs777560877	missense variant	-	NC_000010.11:g.68686402C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1700Ser	rs774147515	missense variant	-	NC_000010.11:g.68686401C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Asp1702Gly	rs150383341	missense variant	-	NC_000010.11:g.68686408A>G	1000Genomes
TET1	Q8NFU7	p.Glu1703Lys	COSM1297385	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686410G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gln1704Ter	COSM4015298	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68686413C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu1705Phe	rs138726459	missense variant	-	NC_000010.11:g.68686416C>T	ESP,gnomAD
TET1	Q8NFU7	p.His1706Gln	COSM76709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686421T>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro1709Leu	rs1215806938	missense variant	-	NC_000010.11:g.68686429C>T	gnomAD
TET1	Q8NFU7	p.Pro1709His	COSM270323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686429C>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu1710Phe	rs1477776685	missense variant	-	NC_000010.11:g.68686431C>T	gnomAD
TET1	Q8NFU7	p.Leu1713Phe	rs1431869672	missense variant	-	NC_000010.11:g.68686440C>T	gnomAD
TET1	Q8NFU7	p.Asp1715Asn	rs764685133	missense variant	-	NC_000010.11:g.68686446G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Asp1715Ala	rs754260807	missense variant	-	NC_000010.11:g.68686447A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Asp1715Glu	rs757623052	missense variant	-	NC_000010.11:g.68686448C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1716Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68686449A>G	NCI-TCGA
TET1	Q8NFU7	p.Gly1720Ser	rs367686516	missense variant	-	NC_000010.11:g.68686461G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1721Cys	NCI-TCGA novel	insertion	-	NC_000010.11:g.68686465_68686466insTTG	NCI-TCGA
TET1	Q8NFU7	p.Lys1722ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68686467_68686468insGGCTTTCTCC	NCI-TCGA
TET1	Q8NFU7	p.Lys1722Arg	rs141820172	missense variant	-	NC_000010.11:g.68686468A>G	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys1722Arg	rs141820172	missense variant	-	NC_000010.11:g.68686468A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1722Asn	rs758685532	missense variant	-	NC_000010.11:g.68686469G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1722Asn	COSM919784	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686469G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Glu1723Lys	rs780106757	missense variant	-	NC_000010.11:g.68686470G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Glu1723Gln	rs780106757	missense variant	-	NC_000010.11:g.68686470G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Gly1724ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68686470_68686471insA	NCI-TCGA
TET1	Q8NFU7	p.Met1725Val	rs768567302	missense variant	-	NC_000010.11:g.68686476A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Glu1726Lys	rs1336296268	missense variant	-	NC_000010.11:g.68686479G>A	TOPMed
TET1	Q8NFU7	p.Ile1729Met	rs749108361	missense variant	-	NC_000010.11:g.68686490C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Lys1730Thr	rs770859828	missense variant	-	NC_000010.11:g.68686492A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1731Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68686495C>A	NCI-TCGA
TET1	Q8NFU7	p.Ile1734Phe	rs774358704	missense variant	-	NC_000010.11:g.68686503A>T	ExAC,TOPMed
TET1	Q8NFU7	p.Glu1735Lys	rs1282920941	missense variant	-	NC_000010.11:g.68686506G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Leu1737Arg	rs1215052617	missense variant	-	NC_000010.11:g.68686513T>G	gnomAD
TET1	Q8NFU7	p.Leu1737Val	rs1487048373	missense variant	-	NC_000010.11:g.68686512C>G	gnomAD
TET1	Q8NFU7	p.Pro1739Arg	rs774959272	missense variant	-	NC_000010.11:g.68686519C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1740His	rs763447831	missense variant	-	NC_000010.11:g.68686522G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1740Cys	rs147119124	missense variant	-	NC_000010.11:g.68686521C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1741Cys	rs1471278863	missense variant	-	NC_000010.11:g.68686524C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1741Leu	rs371499355	missense variant	-	NC_000010.11:g.68686525G>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1741His	rs371499355	missense variant	-	NC_000010.11:g.68686525G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1741His	rs371499355	missense variant	-	NC_000010.11:g.68686525G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Lys1743Asn	rs138459618	missense variant	-	NC_000010.11:g.68686532A>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1744LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68686526_68686527insA	NCI-TCGA
TET1	Q8NFU7	p.Arg1744Gly	rs750825133	missense variant	-	NC_000010.11:g.68686533A>G	ExAC
TET1	Q8NFU7	p.Arg1744Thr	COSM4015300	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686534G>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr1745Met	rs144991411	missense variant	-	NC_000010.11:g.68686537C>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Cys1746Tyr	rs200642816	missense variant	-	NC_000010.11:g.68686540G>A	1000Genomes
TET1	Q8NFU7	p.Gln1749HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68686550G>-	NCI-TCGA
TET1	Q8NFU7	p.Gln1749Ter	rs751689739	stop gained	-	NC_000010.11:g.68686548C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Val1751Ile	rs1321330172	missense variant	-	NC_000010.11:g.68686554G>A	gnomAD
TET1	Q8NFU7	p.Pro1752Leu	rs755086264	missense variant	-	NC_000010.11:g.68686558C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Arg1753Cys	rs1371245854	missense variant	-	NC_000010.11:g.68686560C>T	gnomAD
TET1	Q8NFU7	p.Arg1753Cys	rs1371245854	missense variant	-	NC_000010.11:g.68686560C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg1753His	rs1429461725	missense variant	-	NC_000010.11:g.68686561G>A	TOPMed
TET1	Q8NFU7	p.Gly1755Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68686567G>C	NCI-TCGA
TET1	Q8NFU7	p.Gly1755Val	rs1192292310	missense variant	-	NC_000010.11:g.68686567G>T	TOPMed
TET1	Q8NFU7	p.Gly1755Arg	rs1308125093	missense variant	-	NC_000010.11:g.68686566G>A	gnomAD
TET1	Q8NFU7	p.Lys1757Arg	rs893725658	missense variant	-	NC_000010.11:g.68686573A>G	gnomAD
TET1	Q8NFU7	p.Arg1758Ser	rs781070947	missense variant	-	NC_000010.11:g.68686577G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1759Pro	rs757304626	missense variant	-	NC_000010.11:g.68686578G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1760Val	rs374692138	missense variant	-	NC_000010.11:g.68686582C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1764Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68686593G>A	NCI-TCGA
TET1	Q8NFU7	p.Glu1764Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68686595G>T	NCI-TCGA
TET1	Q8NFU7	p.Glu1764Gly	rs1265692120	missense variant	-	NC_000010.11:g.68686594A>G	gnomAD
TET1	Q8NFU7	p.Ala1767Val	rs886762862	missense variant	-	NC_000010.11:g.68686603C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1767Thr	rs771725688	missense variant	-	NC_000010.11:g.68686602G>A	ExAC,gnomAD
TET1	Q8NFU7	p.His1768Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68686606A>G	NCI-TCGA
TET1	Q8NFU7	p.Ile1770Leu	rs1311387579	missense variant	-	NC_000010.11:g.68686611A>T	TOPMed
TET1	Q8NFU7	p.Glu1774Gln	rs200182540	missense variant	-	NC_000010.11:g.68686623G>C	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1777Ser	rs1371558971	missense variant	-	NC_000010.11:g.68686632C>T	TOPMed
TET1	Q8NFU7	p.Pro1777Leu	rs768342284	missense variant	-	NC_000010.11:g.68686633C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1778Met	rs539035050	missense variant	-	NC_000010.11:g.68686637T>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1779Leu	rs1161437530	missense variant	-	NC_000010.11:g.68686639C>T	gnomAD
TET1	Q8NFU7	p.Arg1780Gln	rs557747751	missense variant	-	NC_000010.11:g.68686642G>A	NCI-TCGA
TET1	Q8NFU7	p.Arg1780Gln	rs557747751	missense variant	-	NC_000010.11:g.68686642G>A	gnomAD
TET1	Q8NFU7	p.Arg1780Ter	COSM3867659	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68686641C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile1781Met	rs1169844402	missense variant	-	NC_000010.11:g.68686646C>G	TOPMed
TET1	Q8NFU7	p.Arg1783Leu	rs763336290	missense variant	-	NC_000010.11:g.68686651G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1783Trp	rs558226101	missense variant	-	NC_000010.11:g.68686650C>T	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Arg1783Gln	rs763336290	missense variant	-	NC_000010.11:g.68686651G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1784Asn	rs1454252323	missense variant	-	NC_000010.11:g.68686655G>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Lys1784Asn	rs1454252323	missense variant	-	NC_000010.11:g.68686655G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr1788Ala	rs766583244	missense variant	-	NC_000010.11:g.68686665A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Thr1789Ile	rs373954825	missense variant	-	NC_000010.11:g.68686669C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1790Ala	rs1033862403	missense variant	-	NC_000010.11:g.68686671A>G	TOPMed
TET1	Q8NFU7	p.Asn1791Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68686674A>T	NCI-TCGA
TET1	Q8NFU7	p.Asn1791Ser	rs372349269	missense variant	-	NC_000010.11:g.68686675A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1792Asp	rs767752800	missense variant	-	NC_000010.11:g.68686677A>G	ExAC,TOPMed
TET1	Q8NFU7	p.Ser1793Asn	rs73262462	missense variant	-	NC_000010.11:g.68686681G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1793Gly	rs182383923	missense variant	-	NC_000010.11:g.68686680A>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Lys1794Gln	rs779028252	missense variant	-	NC_000010.11:g.68686683A>C	ExAC
TET1	Q8NFU7	p.Pro1795Leu	rs745401695	missense variant	-	NC_000010.11:g.68686687C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1795His	rs745401695	missense variant	-	NC_000010.11:g.68686687C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1795Ala	rs1256923120	missense variant	-	NC_000010.11:g.68686686C>G	gnomAD
TET1	Q8NFU7	p.Ser1796Leu	COSM919785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68686690C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser1803Arg	rs753954083	missense variant	-	NC_000010.11:g.68690812T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1804Ile	rs758335300	missense variant	-	NC_000010.11:g.68690814A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1804Ser	COSM919786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690814A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr1805Ser	rs751360035	missense variant	-	NC_000010.11:g.68690817C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Glu1806Ala	rs754751969	missense variant	-	NC_000010.11:g.68690820A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Thr1807Ala	rs1015969210	missense variant	-	NC_000010.11:g.68690822A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Val1808Leu	rs150708897	missense variant	-	NC_000010.11:g.68690825G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Val1808Ala	rs748823854	missense variant	-	NC_000010.11:g.68690826T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Val1808Met	rs150708897	missense variant	-	NC_000010.11:g.68690825G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val1808Met	rs150708897	missense variant	-	NC_000010.11:g.68690825G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln1809Lys	rs1339129070	missense variant	-	NC_000010.11:g.68690828C>A	gnomAD
TET1	Q8NFU7	p.Pro1810Ser	rs771394399	missense variant	-	NC_000010.11:g.68690831C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1810Arg	COSM1474719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690832C>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Glu1815Lys	rs774876884	missense variant	-	NC_000010.11:g.68690846G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1816Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68690849A>T	NCI-TCGA
TET1	Q8NFU7	p.Thr1816Ile	rs1202067026	missense variant	-	NC_000010.11:g.68690850C>T	TOPMed
TET1	Q8NFU7	p.Glu1817Lys	rs759851979	missense variant	-	NC_000010.11:g.68690852G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1818Thr	rs1488687547	missense variant	-	NC_000010.11:g.68690855C>A	gnomAD
TET1	Q8NFU7	p.Pro1818His	rs772501728	missense variant	-	NC_000010.11:g.68690856C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1818Leu	rs772501728	missense variant	-	NC_000010.11:g.68690856C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1824Arg	rs761037648	missense variant	-	NC_000010.11:g.68690875T>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1824Ile	rs775869833	missense variant	-	NC_000010.11:g.68690874G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1824Arg	COSM919787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690873A>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser1824Ile	rs775869833	missense variant	-	NC_000010.11:g.68690874G>T	NCI-TCGA
TET1	Q8NFU7	p.Ser1825Leu	rs747878740	missense variant	-	NC_000010.11:g.68690877C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1825Ter	COSM6066572	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.68690877C>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asp1826Glu	rs761725017	missense variant	-	NC_000010.11:g.68690881C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1827Asp	rs1431081080	missense variant	-	NC_000010.11:g.68690882A>G	gnomAD
TET1	Q8NFU7	p.Asn1827Lys	rs766249705	missense variant	-	NC_000010.11:g.68690884C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1830Ile	COSM1317439	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690892C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Tyr1831Asn	rs751472174	missense variant	-	NC_000010.11:g.68690894T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1832Leu	rs771857626	missense variant	-	NC_000010.11:g.68690898C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1832Leu	rs771857626	missense variant	-	NC_000010.11:g.68690898C>T	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Met1834Val	rs1407308655	missense variant	-	NC_000010.11:g.68690903A>G	gnomAD
TET1	Q8NFU7	p.Met1834Lys	rs139111190	missense variant	-	NC_000010.11:g.68690904T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1835Leu	rs748773901	missense variant	-	NC_000010.11:g.68690907C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1836Thr	rs770438563	missense variant	-	NC_000010.11:g.68690909T>A	ExAC,gnomAD
TET1	Q8NFU7	p.Ala1837Thr	rs146039331	missense variant	-	NC_000010.11:g.68690912G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1837Thr	rs146039331	missense variant	-	NC_000010.11:g.68690912G>A	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala1837Ser	rs146039331	missense variant	-	NC_000010.11:g.68690912G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.His1839Gln	rs776066077	missense variant	-	NC_000010.11:g.68690920C>A	ExAC,gnomAD
TET1	Q8NFU7	p.His1839Tyr	rs1337548000	missense variant	-	NC_000010.11:g.68690918C>T	TOPMed
TET1	Q8NFU7	p.Lys1842Asn	rs62638665	missense variant	-	NC_000010.11:g.68690929A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1844Val	rs368896189	missense variant	-	NC_000010.11:g.68690934C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1846Ser	rs1404221440	missense variant	-	NC_000010.11:g.68690939C>T	NCI-TCGA
TET1	Q8NFU7	p.Pro1846Ser	rs1404221440	missense variant	-	NC_000010.11:g.68690939C>T	TOPMed
TET1	Q8NFU7	p.Pro1846Leu	COSM129663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690940C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser1849Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68690949C>T	NCI-TCGA
TET1	Q8NFU7	p.Trp1850Cys	rs1288611938	missense variant	-	NC_000010.11:g.68690953G>T	gnomAD
TET1	Q8NFU7	p.Pro1852Leu	rs576727317	missense variant	-	NC_000010.11:g.68690958C>T	gnomAD
TET1	Q8NFU7	p.Thr1854Pro	rs1438704773	missense variant	-	NC_000010.11:g.68690963A>C	gnomAD
TET1	Q8NFU7	p.Thr1854Ala	COSM1492296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690963A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ser1856Pro	rs1176165679	missense variant	-	NC_000010.11:g.68690969T>C	gnomAD
TET1	Q8NFU7	p.Ser1856Leu	rs149731226	missense variant	-	NC_000010.11:g.68690970C>T	ESP,gnomAD
TET1	Q8NFU7	p.Thr1858Ile	rs765293990	missense variant	-	NC_000010.11:g.68690976C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1858Ala	rs1407564402	missense variant	-	NC_000010.11:g.68690975A>G	gnomAD
TET1	Q8NFU7	p.Pro1859Ala	rs774165175	missense variant	-	NC_000010.11:g.68690978C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1859Leu	rs1300290482	missense variant	-	NC_000010.11:g.68690979C>T	gnomAD
TET1	Q8NFU7	p.Pro1859Ser	rs774165175	missense variant	-	NC_000010.11:g.68690978C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1860Pro	COSM4015303	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68690981G>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu1862Arg	rs1377853026	missense variant	-	NC_000010.11:g.68690988T>G	gnomAD
TET1	Q8NFU7	p.Ala1866Thr	rs767435262	missense variant	-	NC_000010.11:g.68690999G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1866Val	rs752525372	missense variant	-	NC_000010.11:g.68691000C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ala1866Ser	rs767435262	missense variant	-	NC_000010.11:g.68690999G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1866Pro	rs767435262	missense variant	-	NC_000010.11:g.68690999G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1868Val	rs755857428	missense variant	-	NC_000010.11:g.68691006C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1869Pro	rs1206279895	missense variant	-	NC_000010.11:g.68691008T>C	gnomAD
TET1	Q8NFU7	p.Cys1870Ter	rs756735294	stop gained	-	NC_000010.11:g.68691013C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1871Arg	rs1196438709	missense variant	-	NC_000010.11:g.68691014G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1871Glu	rs778543479	missense variant	-	NC_000010.11:g.68691015G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1871Ala	rs778543479	missense variant	-	NC_000010.11:g.68691015G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1871Val	rs778543479	missense variant	-	NC_000010.11:g.68691015G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1877Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691033G>T	NCI-TCGA
TET1	Q8NFU7	p.Thr1878Ile	rs1180807160	missense variant	-	NC_000010.11:g.68691036C>T	gnomAD
TET1	Q8NFU7	p.Pro1879Leu	rs201665550	missense variant	-	NC_000010.11:g.68691039C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1879His	rs201665550	missense variant	-	NC_000010.11:g.68691039C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1879Leu	rs201665550	missense variant	-	NC_000010.11:g.68691039C>T	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr1882Met	rs759636615	missense variant	-	NC_000010.11:g.68691048C>T	NCI-TCGA
TET1	Q8NFU7	p.Thr1882Arg	rs759636615	missense variant	-	NC_000010.11:g.68691048C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1882Met	rs759636615	missense variant	-	NC_000010.11:g.68691048C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Met1883Lys	rs1310019216	missense variant	-	NC_000010.11:g.68691051T>A	TOPMed
TET1	Q8NFU7	p.Ser1885Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691056T>C	NCI-TCGA
TET1	Q8NFU7	p.Ser1885Leu	rs776722537	missense variant	-	NC_000010.11:g.68691057C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1886Arg	rs773405384	missense variant	-	NC_000010.11:g.68691059G>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1886Arg	rs773405384	missense variant	-	NC_000010.11:g.68691059G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1887Lys	rs944896286	missense variant	-	NC_000010.11:g.68691063G>A	NCI-TCGA
TET1	Q8NFU7	p.Arg1887Gly	rs1361144444	missense variant	-	NC_000010.11:g.68691062A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Arg1887Lys	rs944896286	missense variant	-	NC_000010.11:g.68691063G>A	-
TET1	Q8NFU7	p.Ser1889Gly	rs762986035	missense variant	-	NC_000010.11:g.68691068A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gly1890Ser	rs767467938	missense variant	-	NC_000010.11:g.68691071G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Ala1891Thr	rs775369384	missense variant	-	NC_000010.11:g.68691074G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1892Ser	rs760471820	missense variant	-	NC_000010.11:g.68691078A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn1892Thr	rs760471820	missense variant	-	NC_000010.11:g.68691078A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1896Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691089G>A	NCI-TCGA
TET1	Q8NFU7	p.Ala1896Val	rs1039140376	missense variant	-	NC_000010.11:g.68691090C>T	gnomAD
TET1	Q8NFU7	p.Asp1897Val	rs763895885	missense variant	-	NC_000010.11:g.68691093A>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asp1897Gly	rs763895885	missense variant	-	NC_000010.11:g.68691093A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1900Cys	COSM6066571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691101G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile1901Val	rs142358697	missense variant	-	NC_000010.11:g.68691104A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1901Ser	COSM3985703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691105T>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Gln1903Lys	rs1235249445	missense variant	-	NC_000010.11:g.68691110C>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Gly1905Asp	rs1196528535	missense variant	-	NC_000010.11:g.68691117G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1906Lys	rs757931991	missense variant	-	NC_000010.11:g.68691119G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Val1907Met	rs1169009477	missense variant	-	NC_000010.11:g.68691122G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Ala1908Ser	rs200074832	missense variant	-	NC_000010.11:g.68691125G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu1910Phe	COSM3439910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691131C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Thr1912HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68691132_68691133insC	NCI-TCGA
TET1	Q8NFU7	p.Thr1912Pro	rs781661899	missense variant	-	NC_000010.11:g.68691137A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Thr1912Ala	rs781661899	missense variant	-	NC_000010.11:g.68691137A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ser1914Pro	rs1276412429	missense variant	-	NC_000010.11:g.68691143T>C	gnomAD
TET1	Q8NFU7	p.Ala1915Pro	rs777832634	missense variant	-	NC_000010.11:g.68691146G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Ala1915Gly	rs369296547	missense variant	-	NC_000010.11:g.68691147C>G	ESP,TOPMed
TET1	Q8NFU7	p.Pro1916Ser	rs1447478334	missense variant	-	NC_000010.11:g.68691149C>T	TOPMed
TET1	Q8NFU7	p.Met1918Val	rs1275866035	missense variant	-	NC_000010.11:g.68691155A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1919Asp	rs749405322	missense variant	-	NC_000010.11:g.68691160G>T	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1920Ser	rs770933943	missense variant	-	NC_000010.11:g.68691161C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1920Thr	rs770933943	missense variant	-	NC_000010.11:g.68691161C>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1920Ala	rs770933943	missense variant	-	NC_000010.11:g.68691161C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ile1922Val	rs768475374	missense variant	-	NC_000010.11:g.68691167A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asn1923Thr	rs1248884475	missense variant	-	NC_000010.11:g.68691171A>C	gnomAD
TET1	Q8NFU7	p.Ser1924Cys	rs761492822	missense variant	-	NC_000010.11:g.68691174C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1926Ser	rs867902572	missense variant	-	NC_000010.11:g.68691179C>T	-
TET1	Q8NFU7	p.Pro1926Ser	rs867902572	missense variant	-	NC_000010.11:g.68691179C>T	NCI-TCGA
TET1	Q8NFU7	p.Ser1927Cys	rs750055812	missense variant	-	NC_000010.11:g.68691183C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Gly1929Cys	rs775684043	missense variant	-	NC_000010.11:g.68691188G>T	gnomAD
TET1	Q8NFU7	p.Pro1933Leu	rs765929366	missense variant	-	NC_000010.11:g.68691201C>T	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro1933Leu	rs765929366	missense variant	-	NC_000010.11:g.68691201C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr1935Met	rs540373976	missense variant	-	NC_000010.11:g.68691207C>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Thr1935Met	rs540373976	missense variant	-	NC_000010.11:g.68691207C>T	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro1936Leu	rs1331517105	missense variant	-	NC_000010.11:g.68691210C>T	gnomAD
TET1	Q8NFU7	p.His1937Tyr	rs1435269138	missense variant	-	NC_000010.11:g.68691212C>T	gnomAD
TET1	Q8NFU7	p.Pro1939Gln	rs781517424	missense variant	-	NC_000010.11:g.68691219C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro1939Leu	rs781517424	missense variant	-	NC_000010.11:g.68691219C>T	ExAC,gnomAD
TET1	Q8NFU7	p.His1941Arg	rs1240164579	missense variant	-	NC_000010.11:g.68691225A>G	gnomAD
TET1	Q8NFU7	p.His1941Tyr	rs756396686	missense variant	-	NC_000010.11:g.68691224C>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Gln1942Arg	rs560194393	missense variant	-	NC_000010.11:g.68691228A>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Leu1946Phe	rs1423301146	missense variant	-	NC_000010.11:g.68691239C>T	TOPMed
TET1	Q8NFU7	p.Leu1946Pro	rs771132327	missense variant	-	NC_000010.11:g.68691240T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Thr1947Ile	rs1386503170	missense variant	-	NC_000010.11:g.68691243C>T	TOPMed
TET1	Q8NFU7	p.Ser1948Cys	rs768689742	missense variant	-	NC_000010.11:g.68691246C>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1948Pro	rs745916598	missense variant	-	NC_000010.11:g.68691245T>C	ExAC,gnomAD
TET1	Q8NFU7	p.Gln1950Glu	rs1416995594	missense variant	-	NC_000010.11:g.68691251C>G	TOPMed
TET1	Q8NFU7	p.Asp1951Tyr	rs776385632	missense variant	-	NC_000010.11:g.68691254G>T	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Leu1952Phe	rs1478056231	missense variant	-	NC_000010.11:g.68691257C>T	TOPMed
TET1	Q8NFU7	p.Ala1953Ser	rs907260920	missense variant	-	NC_000010.11:g.68691260G>T	TOPMed
TET1	Q8NFU7	p.Ser1954Phe	rs1490824035	missense variant	-	NC_000010.11:g.68691264C>T	TOPMed
TET1	Q8NFU7	p.Met1957Thr	rs1307117069	missense variant	-	NC_000010.11:g.68691273T>C	TOPMed
TET1	Q8NFU7	p.Met1957Val	rs147755307	missense variant	-	NC_000010.11:g.68691272A>G	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1959Gly	rs1391402453	missense variant	-	NC_000010.11:g.68691279A>G	gnomAD
TET1	Q8NFU7	p.Glu1959Lys	rs377757212	missense variant	-	NC_000010.11:g.68691278G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asp1960Val	rs1216686094	missense variant	-	NC_000010.11:g.68691282A>T	TOPMed
TET1	Q8NFU7	p.Ser1964Phe	rs1343873254	missense variant	-	NC_000010.11:g.68691294C>T	gnomAD
TET1	Q8NFU7	p.Ser1964Phe	rs1343873254	missense variant	-	NC_000010.11:g.68691294C>T	NCI-TCGA
TET1	Q8NFU7	p.Ala1966Val	rs542433082	missense variant	-	NC_000010.11:g.68691300C>T	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Asp1967Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691303A>G	NCI-TCGA
TET1	Q8NFU7	p.Glu1968Lys	rs751150319	missense variant	-	NC_000010.11:g.68691305G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Glu1968Asp	rs150437059	missense variant	-	NC_000010.11:g.68691307G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Pro1969Ser	rs1237482244	missense variant	-	NC_000010.11:g.68691308C>T	gnomAD
TET1	Q8NFU7	p.Ser1971Pro	rs1357706200	missense variant	-	NC_000010.11:g.68691314T>C	gnomAD
TET1	Q8NFU7	p.Asp1972Glu	rs181081228	missense variant	-	NC_000010.11:g.68691319C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1973Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691321A>G	NCI-TCGA
TET1	Q8NFU7	p.Pro1974Leu	rs754200525	missense variant	-	NC_000010.11:g.68691324C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Leu1975Arg	rs757512001	missense variant	-	NC_000010.11:g.68691327T>G	ExAC
TET1	Q8NFU7	p.Ser1976Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691330C>T	NCI-TCGA
TET1	Q8NFU7	p.Asp1978Glu	rs1199571965	missense variant	-	NC_000010.11:g.68691337C>A	gnomAD
TET1	Q8NFU7	p.Ser1981Leu	rs1437860546	missense variant	-	NC_000010.11:g.68691345C>T	gnomAD
TET1	Q8NFU7	p.Pro1982Ser	rs943388997	missense variant	-	NC_000010.11:g.68691347C>T	TOPMed,gnomAD
TET1	Q8NFU7	p.Glu1985Gln	rs745972467	missense variant	-	NC_000010.11:g.68691356G>C	ExAC,gnomAD
TET1	Q8NFU7	p.Glu1985Gly	rs1472426406	missense variant	-	NC_000010.11:g.68691357A>G	gnomAD
TET1	Q8NFU7	p.Leu1987Trp	rs781192453	missense variant	-	NC_000010.11:g.68691363T>G	ExAC,gnomAD
TET1	Q8NFU7	p.Leu1987Ser	COSM3439911	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691363T>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asp1991Asn	rs769757590	missense variant	-	NC_000010.11:g.68691374G>A	ExAC
TET1	Q8NFU7	p.Glu1992Lys	rs150233567	missense variant	-	NC_000010.11:g.68691377G>A	ESP,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1997Asn	rs564186545	missense variant	-	NC_000010.11:g.68691393G>A	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser1997Thr	rs564186545	missense variant	-	NC_000010.11:g.68691393G>C	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.His1999Pro	rs759092814	missense variant	-	NC_000010.11:g.68691399A>C	ExAC,gnomAD
TET1	Q8NFU7	p.His1999Leu	COSM919788	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691399A>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile2000Val	rs1223489717	missense variant	-	NC_000010.11:g.68691401A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Leu2002TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68691404T>-	NCI-TCGA
TET1	Q8NFU7	p.Asp2003Tyr	COSM6066570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691410G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ile2006Val	rs775056557	missense variant	-	NC_000010.11:g.68691419A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ala2010Thr	rs933289259	missense variant	-	NC_000010.11:g.68691431G>A	TOPMed,gnomAD
TET1	Q8NFU7	p.Ile2011Val	rs1257610194	missense variant	-	NC_000010.11:g.68691434A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Ala2012Thr	rs1202179982	missense variant	-	NC_000010.11:g.68691437G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala2012Thr	rs1202179982	missense variant	-	NC_000010.11:g.68691437G>A	gnomAD
TET1	Q8NFU7	p.Ala2014Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691443G>T	NCI-TCGA
TET1	Q8NFU7	p.Ala2014Gly	rs1441753288	missense variant	-	NC_000010.11:g.68691444C>G	gnomAD
TET1	Q8NFU7	p.Ala2023ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68691466_68691467GT>-	NCI-TCGA
TET1	Q8NFU7	p.Ala2023Thr	COSM72946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691470G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg2024Gln	rs1169730805	missense variant	-	NC_000010.11:g.68691474G>A	gnomAD
TET1	Q8NFU7	p.Arg2024Trp	rs1222112424	missense variant	-	NC_000010.11:g.68691473C>T	TOPMed
TET1	Q8NFU7	p.Arg2024Gln	rs1169730805	missense variant	-	NC_000010.11:g.68691474G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Arg2025Ter	rs368275418	stop gained	-	NC_000010.11:g.68691476C>T	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Arg2025Gln	rs1467264884	missense variant	-	NC_000010.11:g.68691477G>A	gnomAD
TET1	Q8NFU7	p.Ala2029Thr	COSM919789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691488G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Pro2032His	rs1404939255	missense variant	-	NC_000010.11:g.68691498C>A	TOPMed
TET1	Q8NFU7	p.Glu2034Gln	rs137872013	missense variant	-	NC_000010.11:g.68691503G>C	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Glu2034Asp	rs551446004	missense variant	-	NC_000010.11:g.68691505G>C	ExAC,gnomAD
TET1	Q8NFU7	p.His2035Gln	rs1378130070	missense variant	-	NC_000010.11:g.68691508C>A	TOPMed
TET1	Q8NFU7	p.His2035Pro	rs770806832	missense variant	-	NC_000010.11:g.68691507A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Asn2037Ser	rs1305975623	missense variant	-	NC_000010.11:g.68691513A>G	gnomAD
TET1	Q8NFU7	p.Arg2038Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691515C>T	NCI-TCGA
TET1	Q8NFU7	p.Arg2038His	COSM4015307	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691516G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn2039Ser	rs1235768778	missense variant	-	NC_000010.11:g.68691519A>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Thr2042Pro	rs745567592	missense variant	-	NC_000010.11:g.68691527A>C	ExAC,gnomAD
TET1	Q8NFU7	p.Thr2042Ile	rs1175161157	missense variant	-	NC_000010.11:g.68691528C>T	gnomAD
TET1	Q8NFU7	p.Arg2043His	rs771754741	missense variant	-	NC_000010.11:g.68691531G>A	ExAC,TOPMed
TET1	Q8NFU7	p.Phe2048Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691546T>A	NCI-TCGA
TET1	Q8NFU7	p.Phe2048Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691545T>A	NCI-TCGA
TET1	Q8NFU7	p.Phe2048Leu	COSM3439913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691545T>C	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn2053ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.68691557A>-	NCI-TCGA
TET1	Q8NFU7	p.Lys2056Asn	VAR_080763	Missense	-	-	UniProt
TET1	Q8NFU7	p.Gln2058Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691575C>A	NCI-TCGA
TET1	Q8NFU7	p.Leu2063Ile	rs1242813274	missense variant	-	NC_000010.11:g.68691590C>A	TOPMed
TET1	Q8NFU7	p.Asn2064Ser	rs1202151808	missense variant	-	NC_000010.11:g.68691594A>G	TOPMed
TET1	Q8NFU7	p.Lys2065Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691597A>T	NCI-TCGA
TET1	Q8NFU7	p.Lys2065Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691597A>G	NCI-TCGA
TET1	Q8NFU7	p.Glu2069Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691608G>C	NCI-TCGA
TET1	Q8NFU7	p.Glu2069Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68691608G>T	NCI-TCGA
TET1	Q8NFU7	p.Glu2069Lys	rs1259480961	missense variant	-	NC_000010.11:g.68691608G>A	gnomAD
TET1	Q8NFU7	p.Ala2070Thr	rs1421273906	missense variant	-	NC_000010.11:g.68691611G>A	gnomAD
TET1	Q8NFU7	p.Ala2073Gly	rs777084272	missense variant	-	NC_000010.11:g.68691621C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Ala2073Thr	rs1256954998	missense variant	-	NC_000010.11:g.68691620G>A	TOPMed
TET1	Q8NFU7	p.Asn2075Thr	rs936281851	missense variant	-	NC_000010.11:g.68691627A>C	TOPMed
TET1	Q8NFU7	p.Asn2075Asp	rs183627556	missense variant	-	NC_000010.11:g.68691626A>G	1000Genomes,ExAC,gnomAD
TET1	Q8NFU7	p.Asn2075Lys	rs1376745186	missense variant	-	NC_000010.11:g.68691628T>A	gnomAD
TET1	Q8NFU7	p.Lys2077Asn	rs1464062021	missense variant	-	NC_000010.11:g.68691634A>C	gnomAD
TET1	Q8NFU7	p.Met2078Arg	rs1055104971	missense variant	-	NC_000010.11:g.68691636T>G	TOPMed,gnomAD
TET1	Q8NFU7	p.Met2078Thr	rs1055104971	missense variant	-	NC_000010.11:g.68691636T>C	TOPMed,gnomAD
TET1	Q8NFU7	p.Lys2079Asn	COSM1348720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691640G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asp2085Gly	rs1308468822	missense variant	-	NC_000010.11:g.68691657A>G	TOPMed
TET1	Q8NFU7	p.Gln2086Glu	rs1420903014	missense variant	-	NC_000010.11:g.68691659C>G	gnomAD
TET1	Q8NFU7	p.Ala2087Val	rs1446935834	missense variant	-	NC_000010.11:g.68691663C>T	TOPMed
TET1	Q8NFU7	p.Ala2088Pro	rs1297955030	missense variant	-	NC_000010.11:g.68691665G>C	gnomAD
TET1	Q8NFU7	p.Ala2088Gly	rs1360370326	missense variant	-	NC_000010.11:g.68691666C>G	gnomAD
TET1	Q8NFU7	p.Glu2090Lys	rs765526444	missense variant	-	NC_000010.11:g.68691671G>A	ExAC,gnomAD
TET1	Q8NFU7	p.Glu2090Ala	rs946056539	missense variant	-	NC_000010.11:g.68691672A>C	TOPMed
TET1	Q8NFU7	p.Gly2091Asp	rs1330768503	missense variant	-	NC_000010.11:g.68691675G>A	gnomAD
TET1	Q8NFU7	p.Pro2092Ser	rs750784915	missense variant	-	NC_000010.11:g.68691677C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Glu2093Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691680G>C	NCI-TCGA
TET1	Q8NFU7	p.Glu2093Gly	rs1354323135	missense variant	-	NC_000010.11:g.68691681A>G	gnomAD
TET1	Q8NFU7	p.Glu2093Lys	rs142389966	missense variant	-	NC_000010.11:g.68691680G>A	ESP,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ser2096Cys	rs1215879489	missense variant	-	NC_000010.11:g.68691690C>G	gnomAD
TET1	Q8NFU7	p.Val2098Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691695G>A	NCI-TCGA
TET1	Q8NFU7	p.Glu2100Ala	rs1489365252	missense variant	-	NC_000010.11:g.68691702A>C	gnomAD
TET1	Q8NFU7	p.Gln2103Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.68691710C>T	NCI-TCGA
TET1	Q8NFU7	p.Gln2103Arg	rs1191579461	missense variant	-	NC_000010.11:g.68691711A>G	gnomAD
TET1	Q8NFU7	p.Ile2104Val	rs751636336	missense variant	-	NC_000010.11:g.68691713A>G	ExAC,gnomAD
TET1	Q8NFU7	p.Pro2105Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691716C>A	NCI-TCGA
TET1	Q8NFU7	p.Pro2105Ser	COSM4989993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691716C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.His2107Arg	rs1468649418	missense variant	-	NC_000010.11:g.68691723A>G	gnomAD
TET1	Q8NFU7	p.Ala2109Val	COSM1348721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691729C>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Leu2112Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.68691737T>G	NCI-TCGA
TET1	Q8NFU7	p.Thr2113Ser	rs777880733	missense variant	-	NC_000010.11:g.68691740A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Thr2113Ile	rs1402574259	missense variant	-	NC_000010.11:g.68691741C>T	TOPMed
TET1	Q8NFU7	p.Asp2115Glu	COSM6130139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691748C>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn2116Ser	rs757251233	missense variant	-	NC_000010.11:g.68691750A>G	NCI-TCGA,NCI-TCGA Cosmic
TET1	Q8NFU7	p.Asn2116Ser	rs757251233	missense variant	-	NC_000010.11:g.68691750A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn2116Asp	COSM685559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691749A>G	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val2120Met	COSM327331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691761G>A	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Val2120Leu	COSM685558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.68691761G>T	NCI-TCGA Cosmic
TET1	Q8NFU7	p.Ala2124Val	rs199778295	missense variant	-	NC_000010.11:g.68691774C>T	1000Genomes,ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.His2127Pro	rs771672219	missense variant	-	NC_000010.11:g.68691783A>C	ExAC,gnomAD
TET1	Q8NFU7	p.His2127Leu	rs771672219	missense variant	-	NC_000010.11:g.68691783A>T	ExAC,gnomAD
TET1	Q8NFU7	p.Val2128Ile	rs199882600	missense variant	-	NC_000010.11:g.68691785G>A	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Ala2129Val	rs768089885	missense variant	-	NC_000010.11:g.68691789C>T	ExAC,gnomAD
TET1	Q8NFU7	p.Ala2129Glu	rs768089885	missense variant	-	NC_000010.11:g.68691789C>A	ExAC,gnomAD
TET1	Q8NFU7	p.Pro2131Arg	rs770280088	missense variant	-	NC_000010.11:g.68691795C>G	ExAC,gnomAD
TET1	Q8NFU7	p.Asn2133Asp	rs773490285	missense variant	-	NC_000010.11:g.68691800A>G	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Asn2133His	rs773490285	missense variant	-	NC_000010.11:g.68691800A>C	ExAC,TOPMed,gnomAD
TET1	Q8NFU7	p.Trp2135Leu	rs1239301657	missense variant	-	NC_000010.11:g.68691807G>T	gnomAD
TET1	Q8NFU7	p.Val2136Ala	rs201444703	missense variant	-	NC_000010.11:g.68691810T>C	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Phe4Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92797447T>C	NCI-TCGA
GOLGA5	Q8TBA6	p.Val5Ile	rs1420964579	missense variant	-	NC_000014.9:g.92797450G>A	gnomAD
GOLGA5	Q8TBA6	p.Asp6Glu	rs149593701	missense variant	-	NC_000014.9:g.92797455T>G	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu7Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92797457T>C	NCI-TCGA
GOLGA5	Q8TBA6	p.Leu7Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92797456C>A	NCI-TCGA
GOLGA5	Q8TBA6	p.Asp13Tyr	rs1052875058	missense variant	-	NC_000014.9:g.92797474G>T	gnomAD
GOLGA5	Q8TBA6	p.Leu14Phe	rs757865891	missense variant	-	NC_000014.9:g.92797477C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Leu14Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92797477C>A	NCI-TCGA
GOLGA5	Q8TBA6	p.Arg17Gln	rs201501111	missense variant	-	NC_000014.9:g.92797487G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg17Gln	rs201501111	missense variant	-	NC_000014.9:g.92797487G>A	NCI-TCGA
GOLGA5	Q8TBA6	p.Gln20Arg	rs1352081961	missense variant	-	NC_000014.9:g.92797496A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln20Lys	rs1177518028	missense variant	-	NC_000014.9:g.92797495C>A	TOPMed
GOLGA5	Q8TBA6	p.Ala23Thr	rs1284959632	missense variant	-	NC_000014.9:g.92797504G>A	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ala23Thr	rs1284959632	missense variant	-	NC_000014.9:g.92797504G>A	gnomAD
GOLGA5	Q8TBA6	p.Thr24Ala	rs1482689950	missense variant	-	NC_000014.9:g.92797507A>G	TOPMed
GOLGA5	Q8TBA6	p.Ala25Thr	rs781774988	missense variant	-	NC_000014.9:g.92797510G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser27Arg	rs1255827601	missense variant	-	NC_000014.9:g.92797516A>C	TOPMed
GOLGA5	Q8TBA6	p.Asp30His	rs1239057719	missense variant	-	NC_000014.9:g.92797525G>C	gnomAD
GOLGA5	Q8TBA6	p.Asn31Ser	rs201328765	missense variant	-	NC_000014.9:g.92797529A>G	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asn31Thr	rs201328765	missense variant	-	NC_000014.9:g.92797529A>C	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asn31Asp	rs1444988498	missense variant	-	NC_000014.9:g.92797528A>G	gnomAD
GOLGA5	Q8TBA6	p.Ile35Met	rs563117542	missense variant	-	NC_000014.9:g.92797542A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Tyr36Cys	rs1400802763	missense variant	-	NC_000014.9:g.92797544A>G	gnomAD
GOLGA5	Q8TBA6	p.Tyr36His	rs1158645842	missense variant	-	NC_000014.9:g.92797543T>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser37Ile	rs1412467809	missense variant	-	NC_000014.9:g.92797547G>T	gnomAD
GOLGA5	Q8TBA6	p.Lys38Asn	rs1341179863	missense variant	-	NC_000014.9:g.92797551A>C	TOPMed
GOLGA5	Q8TBA6	p.Asn39Thr	rs1335745910	missense variant	-	NC_000014.9:g.92797553A>C	gnomAD
GOLGA5	Q8TBA6	p.Thr40Ile	rs749480282	missense variant	-	NC_000014.9:g.92797556C>T	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr40Ala	rs1453862054	missense variant	-	NC_000014.9:g.92797555A>G	gnomAD
GOLGA5	Q8TBA6	p.Asp41His	rs768992142	missense variant	-	NC_000014.9:g.92797558G>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Tyr42Cys	rs1241726709	missense variant	-	NC_000014.9:g.92797562A>G	gnomAD
GOLGA5	Q8TBA6	p.Thr50Ala	rs1198992050	missense variant	-	NC_000014.9:g.92797585A>G	gnomAD
GOLGA5	Q8TBA6	p.Asp51Gly	rs776576975	missense variant	-	NC_000014.9:g.92797589A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ile53Met	rs759273994	missense variant	-	NC_000014.9:g.92797596A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Tyr54Ter	rs775140712	stop gained	-	NC_000014.9:g.92797599T>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Tyr54Asp	rs764953832	missense variant	-	NC_000014.9:g.92797597T>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln55His	rs146787240	missense variant	-	NC_000014.9:g.92797602G>C	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr56Ile	rs763863424	missense variant	-	NC_000014.9:g.92797604C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Lys59Thr	rs768088371	missense variant	-	NC_000014.9:g.92797613A>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Thr61Lys	rs111348610	missense variant	-	NC_000014.9:g.92797619C>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr61Met	rs111348610	missense variant	-	NC_000014.9:g.92797619C>T	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Tyr62Cys	rs780281785	missense variant	-	NC_000014.9:g.92797622A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser64Pro	rs754288879	missense variant	-	NC_000014.9:g.92797627T>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser64Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92797628C>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Ser64Ter	COSM958894	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92797628C>A	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser65Ala	rs1330110488	missense variant	-	NC_000014.9:g.92797630T>G	gnomAD
GOLGA5	Q8TBA6	p.Ala67Gly	rs17128572	missense variant	-	NC_000014.9:g.92797637C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asn69Ser	rs1231193359	missense variant	-	NC_000014.9:g.92797643A>G	gnomAD
GOLGA5	Q8TBA6	p.Asn69Thr	COSM4053080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797643A>C	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ile70Met	rs1285230046	missense variant	-	NC_000014.9:g.92797647T>G	gnomAD
GOLGA5	Q8TBA6	p.Arg71Gln	rs554607146	missense variant	-	NC_000014.9:g.92797649G>A	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg71Gln	rs554607146	missense variant	-	NC_000014.9:g.92797649G>A	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Gln73Lys	rs748184546	missense variant	-	NC_000014.9:g.92797654C>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala75Asp	rs1422943348	missense variant	-	NC_000014.9:g.92797661C>A	TOPMed
GOLGA5	Q8TBA6	p.Ala75Thr	rs1255982895	missense variant	-	NC_000014.9:g.92797660G>A	gnomAD
GOLGA5	Q8TBA6	p.Thr76Asn	rs772158192	missense variant	-	NC_000014.9:g.92797664C>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala79Val	rs866299587	missense variant	-	NC_000014.9:g.92797673C>T	gnomAD
GOLGA5	Q8TBA6	p.Thr81Pro	COSM1128170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797678A>C	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Val84Met	rs368970852	missense variant	-	NC_000014.9:g.92797687G>A	ESP,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser88Phe	COSM958895	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797700C>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Arg89Gln	rs372390722	missense variant	-	NC_000014.9:g.92797703G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg89Trp	rs568247621	missense variant	-	NC_000014.9:g.92797702C>T	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg89Gln	rs372390722	missense variant	-	NC_000014.9:g.92797703G>A	NCI-TCGA
GOLGA5	Q8TBA6	p.Pro91Gln	rs762853769	missense variant	-	NC_000014.9:g.92797709C>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Val92Ala	rs1421986586	missense variant	-	NC_000014.9:g.92797712T>C	gnomAD
GOLGA5	Q8TBA6	p.Glu93Lys	rs141029204	missense variant	-	NC_000014.9:g.92797714G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser95Pro	rs1385530985	missense variant	-	NC_000014.9:g.92797720T>C	gnomAD
GOLGA5	Q8TBA6	p.Val98Ile	rs1305047251	missense variant	-	NC_000014.9:g.92797729G>A	gnomAD
GOLGA5	Q8TBA6	p.Ala101Ser	rs1399671553	missense variant	-	NC_000014.9:g.92797738G>T	gnomAD
GOLGA5	Q8TBA6	p.Ser102Cys	rs761077825	missense variant	-	NC_000014.9:g.92797742C>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser102Pro	COSM958896	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797741T>C	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Val103Leu	rs537022332	missense variant	-	NC_000014.9:g.92797744G>C	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Val103Ile	rs537022332	missense variant	-	NC_000014.9:g.92797744G>A	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Pro104Ser	rs1227923629	missense variant	-	NC_000014.9:g.92797747C>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Pro104Ser	rs1227923629	missense variant	-	NC_000014.9:g.92797747C>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Pro104Leu	rs1264566364	missense variant	-	NC_000014.9:g.92797748C>T	gnomAD
GOLGA5	Q8TBA6	p.Arg105Thr	rs201517262	missense variant	-	NC_000014.9:g.92797751G>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg105Gly	rs1354177746	missense variant	-	NC_000014.9:g.92797750A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg105Trp	rs1354177746	missense variant	-	NC_000014.9:g.92797750A>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Pro106Leu	rs891447266	missense variant	-	NC_000014.9:g.92797754C>T	gnomAD
GOLGA5	Q8TBA6	p.Ser107Ter	COSM3499026	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92797757C>A	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser108Phe	rs752927689	missense variant	-	NC_000014.9:g.92797760C>T	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.His109Arg	rs994114647	missense variant	-	NC_000014.9:g.92797763A>G	TOPMed
GOLGA5	Q8TBA6	p.Phe110Val	rs777823905	missense variant	-	NC_000014.9:g.92797765T>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Phe110Leu	rs747171055	missense variant	-	NC_000014.9:g.92797767T>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Phe110LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.92797764T>-	NCI-TCGA
GOLGA5	Q8TBA6	p.Val111Leu	rs769596121	missense variant	-	NC_000014.9:g.92797768G>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg112Gln	rs768396335	missense variant	-	NC_000014.9:g.92797772G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg112Gly	rs780072747	missense variant	-	NC_000014.9:g.92797771C>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg112Ter	rs780072747	stop gained	-	NC_000014.9:g.92797771C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg113Lys	rs774082205	missense variant	-	NC_000014.9:g.92797775G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg113Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92797775G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Lys114Asn	rs1296373182	missense variant	-	NC_000014.9:g.92797779A>T	gnomAD
GOLGA5	Q8TBA6	p.Lys114Arg	rs1419197969	missense variant	-	NC_000014.9:g.92797778A>G	gnomAD
GOLGA5	Q8TBA6	p.Lys115Thr	rs1026520489	missense variant	-	NC_000014.9:g.92797781A>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Lys115Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92797780A>C	NCI-TCGA
GOLGA5	Q8TBA6	p.Ser116Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.92797784C>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Asp119Asn	rs761556497	missense variant	-	NC_000014.9:g.92797792G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asp119Glu	rs145331070	missense variant	-	NC_000014.9:g.92797794T>G	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asp120Ala	rs1033897200	missense variant	-	NC_000014.9:g.92797796A>C	gnomAD
GOLGA5	Q8TBA6	p.Asp120Val	rs1033897200	missense variant	-	NC_000014.9:g.92797796A>T	gnomAD
GOLGA5	Q8TBA6	p.Glu121Val	rs772578887	missense variant	-	NC_000014.9:g.92797799A>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Leu123Arg	rs1292387370	missense variant	-	NC_000014.9:g.92797805T>G	gnomAD
GOLGA5	Q8TBA6	p.Asp125Tyr	rs1352836050	missense variant	-	NC_000014.9:g.92797810G>T	gnomAD
GOLGA5	Q8TBA6	p.Leu127Arg	rs577055972	missense variant	-	NC_000014.9:g.92797817T>G	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Leu127Phe	rs760276060	missense variant	-	NC_000014.9:g.92797816C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asn128Asp	COSM4896246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797819A>G	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser130Leu	COSM4843464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797826C>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Lys132Arg	rs759759384	missense variant	-	NC_000014.9:g.92797832A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Pro134Arg	rs149196374	missense variant	-	NC_000014.9:g.92797838C>G	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gly136Arg	rs764349513	missense variant	-	NC_000014.9:g.92797843G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gly136Glu	rs1386442489	missense variant	-	NC_000014.9:g.92797844G>A	gnomAD
GOLGA5	Q8TBA6	p.Arg137Met	rs1439549805	missense variant	-	NC_000014.9:g.92797847G>T	gnomAD
GOLGA5	Q8TBA6	p.Arg137Trp	rs1355769025	missense variant	-	NC_000014.9:g.92797846A>T	TOPMed
GOLGA5	Q8TBA6	p.Val138Leu	rs1156943339	missense variant	-	NC_000014.9:g.92797849G>T	gnomAD
GOLGA5	Q8TBA6	p.Glu139Ala	rs1247447448	missense variant	-	NC_000014.9:g.92797853A>C	gnomAD
GOLGA5	Q8TBA6	p.Arg141Ser	rs1347023174	missense variant	-	NC_000014.9:g.92797860A>T	gnomAD
GOLGA5	Q8TBA6	p.Lys142Thr	rs751560647	missense variant	-	NC_000014.9:g.92797862A>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Lys142Arg	rs751560647	missense variant	-	NC_000014.9:g.92797862A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gly145Arg	rs1258713511	missense variant	-	NC_000014.9:g.92797870G>C	TOPMed
GOLGA5	Q8TBA6	p.Lys146Asn	COSM1323330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797875G>C	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Pro148Leu	rs757380809	missense variant	-	NC_000014.9:g.92797880C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Pro148Ser	rs1399865076	missense variant	-	NC_000014.9:g.92797879C>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Phe150Val	rs749255638	missense variant	-	NC_000014.9:g.92797885T>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln151Arg	rs755034600	missense variant	-	NC_000014.9:g.92797889A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser152Gly	rs1332814006	missense variant	-	NC_000014.9:g.92797891A>G	TOPMed
GOLGA5	Q8TBA6	p.Ser153Pro	rs748009930	missense variant	-	NC_000014.9:g.92797894T>C	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser153Ala	rs748009930	missense variant	-	NC_000014.9:g.92797894T>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser153Pro	rs748009930	missense variant	-	NC_000014.9:g.92797894T>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln154Glu	rs961384993	missense variant	-	NC_000014.9:g.92797897C>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr155Ile	rs771822697	missense variant	-	NC_000014.9:g.92797901C>T	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser157Gly	rs35729851	missense variant	-	NC_000014.9:g.92797906A>G	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser157Asn	rs1457753058	missense variant	-	NC_000014.9:g.92797907G>A	gnomAD
GOLGA5	Q8TBA6	p.Ser159Asn	COSM958898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92797913G>A	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser160Cys	rs770485468	missense variant	-	NC_000014.9:g.92797916C>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Pro163Ser	rs1419727831	missense variant	-	NC_000014.9:g.92797924C>T	gnomAD
GOLGA5	Q8TBA6	p.Ser164Asn	rs765790077	missense variant	-	NC_000014.9:g.92797928G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser164Gly	rs760030435	missense variant	-	NC_000014.9:g.92797927A>G	ExAC,TOPMed
GOLGA5	Q8TBA6	p.Ser164Arg	rs1420822335	missense variant	-	NC_000014.9:g.92797929T>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Val165Ala	rs142921167	missense variant	-	NC_000014.9:g.92797931T>C	ESP,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ile168Thr	rs1337164224	missense variant	-	NC_000014.9:g.92797940T>C	gnomAD
GOLGA5	Q8TBA6	p.Ile168Val	rs1471042050	missense variant	-	NC_000014.9:g.92797939A>G	gnomAD
GOLGA5	Q8TBA6	p.Lys169Gln	rs775810727	missense variant	-	NC_000014.9:g.92797942A>C	ExAC
GOLGA5	Q8TBA6	p.Lys169Arg	rs763346887	missense variant	-	NC_000014.9:g.92797943A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ile171Thr	rs1238927983	missense variant	-	NC_000014.9:g.92797949T>C	TOPMed
GOLGA5	Q8TBA6	p.Ile171Val	rs1444560507	missense variant	-	NC_000014.9:g.92797948A>G	gnomAD
GOLGA5	Q8TBA6	p.Glu173Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.92797954G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Asn174His	rs1299783976	missense variant	-	NC_000014.9:g.92797957A>C	gnomAD
GOLGA5	Q8TBA6	p.Asn174Ser	rs950036691	missense variant	-	NC_000014.9:g.92797958A>G	TOPMed
GOLGA5	Q8TBA6	p.Ser175Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92797961C>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Phe176Ser	rs764175277	missense variant	-	NC_000014.9:g.92797964T>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gly177Trp	rs751820228	missense variant	-	NC_000014.9:g.92797966G>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser178Cys	rs757219754	missense variant	-	NC_000014.9:g.92797969A>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser178Asn	rs370631881	missense variant	-	NC_000014.9:g.92797970G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser178Thr	rs370631881	missense variant	-	NC_000014.9:g.92797970G>C	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser178Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92797969A>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Thr180Ile	rs1264214072	missense variant	-	NC_000014.9:g.92797976C>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr180Ser	rs1264214072	missense variant	-	NC_000014.9:g.92797976C>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu182Lys	rs1235127487	missense variant	-	NC_000014.9:g.92797981G>A	gnomAD
GOLGA5	Q8TBA6	p.Ala183Ser	rs374737199	missense variant	-	NC_000014.9:g.92806738G>T	ESP,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser187Leu	rs1222202103	missense variant	-	NC_000014.9:g.92806751C>T	TOPMed
GOLGA5	Q8TBA6	p.Asp188Gly	rs571035389	missense variant	-	NC_000014.9:g.92806754A>G	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser190Arg	rs146398576	missense variant	-	NC_000014.9:g.92806759A>C	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gly193Cys	rs1416859338	missense variant	-	NC_000014.9:g.92806768G>T	TOPMed
GOLGA5	Q8TBA6	p.Gly193Val	rs946749224	missense variant	-	NC_000014.9:g.92806769G>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln194Ter	rs1363089652	stop gained	-	NC_000014.9:g.92806771C>T	gnomAD
GOLGA5	Q8TBA6	p.Ser198Leu	rs1228295574	missense variant	-	NC_000014.9:g.92806784C>T	gnomAD
GOLGA5	Q8TBA6	p.Ser198Pro	rs762126649	missense variant	-	NC_000014.9:g.92806783T>C	ExAC
GOLGA5	Q8TBA6	p.Lys199Glu	rs753745020	missense variant	-	NC_000014.9:g.92806786A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu200Lys	rs979805043	missense variant	-	NC_000014.9:g.92806789G>A	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Val202Leu	COSM433497	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92806795G>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser203Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.92806799C>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Ser204Pro	rs1445551974	missense variant	-	NC_000014.9:g.92806801T>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asn205Ser	rs1242524899	missense variant	-	NC_000014.9:g.92806805A>G	gnomAD
GOLGA5	Q8TBA6	p.Asn205Asp	rs773594321	missense variant	-	NC_000014.9:g.92806804A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Cys208Phe	rs766567893	missense variant	-	NC_000014.9:g.92806814G>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Pro209Thr	rs921518124	missense variant	-	NC_000014.9:g.92806816C>A	TOPMed
GOLGA5	Q8TBA6	p.Pro209Leu	rs754036168	missense variant	-	NC_000014.9:g.92806817C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Pro209Arg	COSM4053082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92806817C>G	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.His211Pro	rs1474032750	missense variant	-	NC_000014.9:g.92806823A>C	TOPMed
GOLGA5	Q8TBA6	p.Thr212Ala	rs762931346	missense variant	-	NC_000014.9:g.92806825A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Thr212Ser	rs148037758	missense variant	-	NC_000014.9:g.92806826C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr212Asn	rs148037758	missense variant	-	NC_000014.9:g.92806826C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Pro213GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.92806826C>-	NCI-TCGA
GOLGA5	Q8TBA6	p.Thr214Ala	rs1051240704	missense variant	-	NC_000014.9:g.92806831A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr214Pro	rs1051240704	missense variant	-	NC_000014.9:g.92806831A>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr214Ile	rs1318534847	missense variant	-	NC_000014.9:g.92806832C>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Pro215Arg	rs1452401026	missense variant	-	NC_000014.9:g.92806835C>G	gnomAD
GOLGA5	Q8TBA6	p.Pro215Ser	rs1346211666	missense variant	-	NC_000014.9:g.92806834C>T	gnomAD
GOLGA5	Q8TBA6	p.Asn216Ser	rs757033796	missense variant	-	NC_000014.9:g.92806838A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asp218Val	rs1464787041	missense variant	-	NC_000014.9:g.92806844A>T	TOPMed
GOLGA5	Q8TBA6	p.Gly219Ser	rs1273928358	missense variant	-	NC_000014.9:g.92806846G>A	TOPMed
GOLGA5	Q8TBA6	p.Gly219Asp	rs1385636489	missense variant	-	NC_000014.9:g.92806847G>A	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Lys220Arg	rs1279106710	missense variant	-	NC_000014.9:g.92806850A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Lys220Thr	rs1279106710	missense variant	-	NC_000014.9:g.92806850A>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu223Gln	rs750082044	missense variant	-	NC_000014.9:g.92806858G>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Glu223Lys	COSM1293527	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92806858G>A	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Leu224Pro	rs1285243812	missense variant	-	NC_000014.9:g.92806862T>C	gnomAD
GOLGA5	Q8TBA6	p.Arg228Gln	rs375259318	missense variant	-	NC_000014.9:g.92806874G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg228Ter	rs1390879329	stop gained	-	NC_000014.9:g.92806873C>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu230Ala	rs755482646	missense variant	-	NC_000014.9:g.92806880A>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Glu230Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92806881G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Arg235Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92806895G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Asn236Ser	rs1459382698	missense variant	-	NC_000014.9:g.92806898A>G	TOPMed
GOLGA5	Q8TBA6	p.Asn236Asp	rs779322105	missense variant	-	NC_000014.9:g.92806897A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln239Arg	rs748501039	missense variant	-	NC_000014.9:g.92806907A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu241Ser	rs1424070658	missense variant	-	NC_000014.9:g.92806913T>C	gnomAD
GOLGA5	Q8TBA6	p.Gln243Arg	rs1170691651	missense variant	-	NC_000014.9:g.92806919A>G	TOPMed
GOLGA5	Q8TBA6	p.Gln243Glu	COSM3793969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92806918C>G	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Glu244Ter	COSM958899	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92806921G>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Met245Leu	rs1467849427	missense variant	-	NC_000014.9:g.92806924A>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Met245Val	rs1467849427	missense variant	-	NC_000014.9:g.92806924A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala246Thr	rs772332709	missense variant	-	NC_000014.9:g.92806927G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser247Leu	rs150641129	missense variant	-	NC_000014.9:g.92806931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu248Phe	rs771334225	missense variant	-	NC_000014.9:g.92806935A>T	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln250Arg	rs368665594	missense variant	-	NC_000014.9:g.92806940A>G	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Lys253Glu	rs1444495349	missense variant	-	NC_000014.9:g.92806948A>G	gnomAD
GOLGA5	Q8TBA6	p.Thr255Ser	rs371880770	missense variant	-	NC_000014.9:g.92806955C>G	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln256Ter	rs1221899730	stop gained	-	NC_000014.9:g.92806957C>T	gnomAD
GOLGA5	Q8TBA6	p.Gln256Arg	rs200228925	missense variant	-	NC_000014.9:g.92806958A>G	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln256His	rs1245198790	missense variant	-	NC_000014.9:g.92806959A>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu257Ter	COSM699063	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92806960G>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Glu258Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.92806963G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Leu259Val	rs1477251405	missense variant	-	NC_000014.9:g.92809302T>G	gnomAD
GOLGA5	Q8TBA6	p.Lys261Glu	rs1371690357	missense variant	-	NC_000014.9:g.92809308A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala264Gly	rs1157843193	missense variant	-	NC_000014.9:g.92809318C>G	TOPMed
GOLGA5	Q8TBA6	p.Val266Ile	rs745911234	missense variant	-	NC_000014.9:g.92809323G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Lys268Asn	rs1168971513	missense variant	-	NC_000014.9:g.92809331G>C	gnomAD
GOLGA5	Q8TBA6	p.Asn270Ser	rs1422846446	missense variant	-	NC_000014.9:g.92809336A>G	gnomAD
GOLGA5	Q8TBA6	p.Asn270Asp	rs769776684	missense variant	-	NC_000014.9:g.92809335A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ala271Thr	rs1369913599	missense variant	-	NC_000014.9:g.92809338G>A	TOPMed
GOLGA5	Q8TBA6	p.Asp272His	rs1304992631	missense variant	-	NC_000014.9:g.92809341G>C	gnomAD
GOLGA5	Q8TBA6	p.Ser274Pro	rs754276162	missense variant	-	NC_000014.9:g.92809347T>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser274Leu	rs761644011	missense variant	-	NC_000014.9:g.92809348C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Lys275Gln	COSM6076546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92809350A>C	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Asp277Glu	rs1314317080	missense variant	-	NC_000014.9:g.92809358T>A	gnomAD
GOLGA5	Q8TBA6	p.Arg278Gly	rs1357134891	missense variant	-	NC_000014.9:g.92809359C>G	gnomAD
GOLGA5	Q8TBA6	p.Arg278Ter	rs1357134891	stop gained	-	NC_000014.9:g.92809359C>T	gnomAD
GOLGA5	Q8TBA6	p.Arg278Gln	rs772961779	missense variant	-	NC_000014.9:g.92809360G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg281Gln	rs34515753	missense variant	-	NC_000014.9:g.92809369G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg281Ter	rs765970582	stop gained	-	NC_000014.9:g.92809368C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gly282Arg	rs754439958	missense variant	-	NC_000014.9:g.92809371G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg284Gln	rs114206362	missense variant	-	NC_000014.9:g.92809378G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala285Val	rs1443253273	missense variant	-	NC_000014.9:g.92809381C>T	gnomAD
GOLGA5	Q8TBA6	p.Asp289Asn	rs757717660	missense variant	-	NC_000014.9:g.92809392G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asp289Ala	rs1382598099	missense variant	-	NC_000014.9:g.92809393A>C	gnomAD
GOLGA5	Q8TBA6	p.Ala293Asp	COSM3499027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92809405C>A	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Val294Met	rs781418053	missense variant	-	NC_000014.9:g.92809407G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Lys297Glu	rs746073845	missense variant	-	NC_000014.9:g.92809416A>G	ExAC
GOLGA5	Q8TBA6	p.Gln300Arg	rs1395259524	missense variant	-	NC_000014.9:g.92809426A>G	gnomAD
GOLGA5	Q8TBA6	p.Leu304Pro	rs1244466689	missense variant	-	NC_000014.9:g.92809438T>C	TOPMed
GOLGA5	Q8TBA6	p.Lys305Glu	rs1313298333	missense variant	-	NC_000014.9:g.92809440A>G	gnomAD
GOLGA5	Q8TBA6	p.Val306Met	rs1359313184	missense variant	-	NC_000014.9:g.92809443G>A	TOPMed
GOLGA5	Q8TBA6	p.Gln309Pro	rs1342203360	missense variant	-	NC_000014.9:g.92809453A>C	gnomAD
GOLGA5	Q8TBA6	p.Gln309Glu	rs1315224425	missense variant	-	NC_000014.9:g.92809452C>G	gnomAD
GOLGA5	Q8TBA6	p.Ala311Pro	rs1236495226	missense variant	-	NC_000014.9:g.92809458G>C	gnomAD
GOLGA5	Q8TBA6	p.Asp312Asn	rs771959999	missense variant	-	NC_000014.9:g.92809461G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser316Thr	rs760408276	missense variant	-	NC_000014.9:g.92809474G>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg318Cys	rs369757501	missense variant	-	NC_000014.9:g.92809479C>T	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg318His	rs779569127	missense variant	-	NC_000014.9:g.92809480G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg318Leu	rs779569127	missense variant	-	NC_000014.9:g.92809480G>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Glu323Gln	rs1317914661	missense variant	-	NC_000014.9:g.92809494G>C	TOPMed
GOLGA5	Q8TBA6	p.Ala324Val	rs764987347	missense variant	-	NC_000014.9:g.92809498C>T	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser327Gly	rs1301020193	missense variant	-	NC_000014.9:g.92809506A>G	TOPMed
GOLGA5	Q8TBA6	p.Glu328Lys	rs1365761178	missense variant	-	NC_000014.9:g.92809509G>A	gnomAD
GOLGA5	Q8TBA6	p.Lys329Glu	rs1423980106	missense variant	-	NC_000014.9:g.92809512A>G	TOPMed
GOLGA5	Q8TBA6	p.Lys329Arg	rs1454446678	missense variant	-	NC_000014.9:g.92809513A>G	gnomAD
GOLGA5	Q8TBA6	p.Lys329Asn	rs1054547621	missense variant	-	NC_000014.9:g.92809514A>C	TOPMed
GOLGA5	Q8TBA6	p.Arg331Ter	rs1175511122	stop gained	-	NC_000014.9:g.92809518C>T	gnomAD
GOLGA5	Q8TBA6	p.Arg331Gln	rs752115335	missense variant	-	NC_000014.9:g.92809519G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Met333Thr	rs964929924	missense variant	-	NC_000014.9:g.92810259T>C	TOPMed
GOLGA5	Q8TBA6	p.Met333Ile	rs1445831607	missense variant	-	NC_000014.9:g.92810260G>A	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln334Arg	rs759413768	missense variant	-	NC_000014.9:g.92810262A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln334Glu	rs776264383	missense variant	-	NC_000014.9:g.92810261C>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asp335Val	rs1225735273	missense variant	-	NC_000014.9:g.92810265A>T	gnomAD
GOLGA5	Q8TBA6	p.Gln336Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.92810267C>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Gly339Ser	rs200513284	missense variant	-	NC_000014.9:g.92810276G>A	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser341Ile	rs1282996534	missense variant	-	NC_000014.9:g.92810283G>T	TOPMed
GOLGA5	Q8TBA6	p.Ser341Gly	rs1203026126	missense variant	-	NC_000014.9:g.92810282A>G	gnomAD
GOLGA5	Q8TBA6	p.Gln343Arg	rs1483412304	missense variant	-	NC_000014.9:g.92810289A>G	gnomAD
GOLGA5	Q8TBA6	p.Gln343Ter	rs1253189509	stop gained	-	NC_000014.9:g.92810288C>T	gnomAD
GOLGA5	Q8TBA6	p.Asn344Ser	rs1392522945	missense variant	-	NC_000014.9:g.92810292A>G	TOPMed
GOLGA5	Q8TBA6	p.Gln348His	rs762492990	missense variant	-	NC_000014.9:g.92810305G>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Thr349Ser	rs368926369	missense variant	-	NC_000014.9:g.92810307C>G	ESP,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr349Ala	rs1296581606	missense variant	-	NC_000014.9:g.92810306A>G	TOPMed
GOLGA5	Q8TBA6	p.Phe350Leu	rs1040835	missense variant	-	NC_000014.9:g.92810309T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln351His	rs554824244	missense variant	-	NC_000014.9:g.92810314G>C	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln351Leu	rs933781806	missense variant	-	NC_000014.9:g.92810313A>T	TOPMed
GOLGA5	Q8TBA6	p.Gln351His	rs554824244	missense variant	-	NC_000014.9:g.92810314G>T	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg353Ile	rs1428371066	missense variant	-	NC_000014.9:g.92810319G>T	TOPMed
GOLGA5	Q8TBA6	p.Leu354Pro	rs183339423	missense variant	-	NC_000014.9:g.92810322T>C	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu354Gln	rs183339423	missense variant	-	NC_000014.9:g.92810322T>A	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.His355Arg	rs1423485238	missense variant	-	NC_000014.9:g.92810325A>G	gnomAD
GOLGA5	Q8TBA6	p.His355Asn	rs756526740	missense variant	-	NC_000014.9:g.92810324C>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ala357Val	rs150067618	missense variant	-	NC_000014.9:g.92810331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asp358Asn	rs941014977	missense variant	-	NC_000014.9:g.92810333G>A	TOPMed
GOLGA5	Q8TBA6	p.Ala359Gly	rs1426811274	missense variant	-	NC_000014.9:g.92810337C>G	gnomAD
GOLGA5	Q8TBA6	p.Thr360Ile	COSM3968974	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92810340C>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Leu361Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92810342C>A	NCI-TCGA
GOLGA5	Q8TBA6	p.Leu361Val	COSM3815556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92810342C>G	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Lys362Asn	rs753943743	missense variant	-	NC_000014.9:g.92810347G>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Glu364Gly	rs1298406264	missense variant	-	NC_000014.9:g.92810352A>G	gnomAD
GOLGA5	Q8TBA6	p.Ser367Asn	rs755264599	missense variant	-	NC_000014.9:g.92810361G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln370Pro	rs1221853733	missense variant	-	NC_000014.9:g.92810370A>C	gnomAD
GOLGA5	Q8TBA6	p.Met371Val	rs557151106	missense variant	-	NC_000014.9:g.92810372A>G	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser373Asn	rs1159772274	missense variant	-	NC_000014.9:g.92811552G>A	TOPMed
GOLGA5	Q8TBA6	p.Glu374Lys	rs142273431	missense variant	-	NC_000014.9:g.92811554G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala377Thr	rs553333516	missense variant	-	NC_000014.9:g.92811563G>A	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg378His	rs768382436	missense variant	-	NC_000014.9:g.92811567G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg378Cys	rs751943504	missense variant	-	NC_000014.9:g.92811566C>T	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu379Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92811569C>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Asn380Ser	rs35865539	missense variant	-	NC_000014.9:g.92811573A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu383Lys	rs1201328565	missense variant	-	NC_000014.9:g.92811581G>A	TOPMed
GOLGA5	Q8TBA6	p.Met384Lys	rs1278971439	missense variant	-	NC_000014.9:g.92811585T>A	gnomAD
GOLGA5	Q8TBA6	p.Glu385Val	rs771613439	missense variant	-	NC_000014.9:g.92811588A>T	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu385Gly	rs771613439	missense variant	-	NC_000014.9:g.92811588A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu385Ter	rs988707760	stop gained	-	NC_000014.9:g.92811587G>T	TOPMed
GOLGA5	Q8TBA6	p.Arg386Cys	rs772660824	missense variant	-	NC_000014.9:g.92811590C>T	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg386His	rs200288795	missense variant	-	NC_000014.9:g.92811591G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala390Val	rs1322533209	missense variant	-	NC_000014.9:g.92811603C>T	gnomAD
GOLGA5	Q8TBA6	p.Glu391Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92811605G>A	NCI-TCGA
GOLGA5	Q8TBA6	p.Ile393Val	rs766924395	missense variant	-	NC_000014.9:g.92811611A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ile393Thr	rs371151849	missense variant	-	NC_000014.9:g.92811612T>C	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr394Ala	rs759928094	missense variant	-	NC_000014.9:g.92811614A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Leu395Val	rs543664165	missense variant	-	NC_000014.9:g.92811617C>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu397Lys	rs762876362	missense variant	-	NC_000014.9:g.92811623G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg398Ile	rs922051426	missense variant	-	NC_000014.9:g.92811627G>T	TOPMed
GOLGA5	Q8TBA6	p.Lys399Arg	rs1413225487	missense variant	-	NC_000014.9:g.92811630A>G	gnomAD
GOLGA5	Q8TBA6	p.Tyr400His	rs376039906	missense variant	-	NC_000014.9:g.92811632T>C	ESP
GOLGA5	Q8TBA6	p.Tyr400Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92811632T>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Ser401Ala	rs550880340	missense variant	-	NC_000014.9:g.92811635T>G	1000Genomes,TOPMed
GOLGA5	Q8TBA6	p.Glu403Gly	rs1289208708	missense variant	-	NC_000014.9:g.92811642A>G	TOPMed
GOLGA5	Q8TBA6	p.Val407Phe	rs764230310	missense variant	-	NC_000014.9:g.92811653G>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln412His	rs1334024082	missense variant	-	NC_000014.9:g.92811670G>T	gnomAD
GOLGA5	Q8TBA6	p.Tyr417Cys	rs780170792	missense variant	-	NC_000014.9:g.92811684A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu419Phe	rs1157925241	missense variant	-	NC_000014.9:g.92811691G>T	gnomAD
GOLGA5	Q8TBA6	p.Ser423Phe	rs754831512	missense variant	-	NC_000014.9:g.92811702C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Glu427Ter	COSM4886140	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92811713G>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Asp430Glu	rs377092695	missense variant	-	NC_000014.9:g.92811724C>A	ESP,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Tyr431His	rs370188399	missense variant	-	NC_000014.9:g.92811725T>C	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Tyr431Cys	rs142379108	missense variant	-	NC_000014.9:g.92811726A>G	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Lys432Gln	rs1439023376	missense variant	-	NC_000014.9:g.92811728A>C	gnomAD
GOLGA5	Q8TBA6	p.Gln433Lys	rs771676445	missense variant	-	NC_000014.9:g.92811731C>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln433Arg	rs1401856715	missense variant	-	NC_000014.9:g.92811732A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Lys434Glu	rs777310850	missense variant	-	NC_000014.9:g.92811734A>G	ExAC
GOLGA5	Q8TBA6	p.Thr436Ala	rs1284505584	missense variant	-	NC_000014.9:g.92811740A>G	TOPMed
GOLGA5	Q8TBA6	p.Arg437Lys	rs746545770	missense variant	-	NC_000014.9:g.92811744G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Lys444Thr	rs763258665	missense variant	-	NC_000014.9:g.92816261A>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu445Met	rs768873660	missense variant	-	NC_000014.9:g.92816263T>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ile446Met	rs774449055	missense variant	-	NC_000014.9:g.92816268T>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asn447Ser	COSM958902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92816270A>G	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Gly452Ala	rs1287288717	missense variant	-	NC_000014.9:g.92816285G>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gly452Val	rs1287288717	missense variant	-	NC_000014.9:g.92816285G>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser453Pro	rs773480047	missense variant	-	NC_000014.9:g.92816287T>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gly454Val	rs1387927846	missense variant	-	NC_000014.9:g.92816291G>T	TOPMed
GOLGA5	Q8TBA6	p.Glu456Gln	rs759520012	missense variant	-	NC_000014.9:g.92816296G>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asp459Gly	rs1162348055	missense variant	-	NC_000014.9:g.92816306A>G	TOPMed
GOLGA5	Q8TBA6	p.Ser460Arg	rs765123740	missense variant	-	NC_000014.9:g.92816310C>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser461Arg	rs752502062	missense variant	-	NC_000014.9:g.92816311A>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Thr462Ile	rs763747760	missense variant	-	NC_000014.9:g.92816315C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Thr462Ala	rs758153492	missense variant	-	NC_000014.9:g.92816314A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ala463Ser	rs751178151	missense variant	-	NC_000014.9:g.92816317G>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser464Asn	rs61440581	missense variant	-	NC_000014.9:g.92816321G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Met466Thr	rs1321695318	missense variant	-	NC_000014.9:g.92816327T>C	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Met466Ile	rs374187542	missense variant	-	NC_000014.9:g.92816328G>C	ESP,TOPMed
GOLGA5	Q8TBA6	p.Met466Val	rs745432334	missense variant	-	NC_000014.9:g.92816326A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Met466Thr	rs1321695318	missense variant	-	NC_000014.9:g.92816327T>C	-
GOLGA5	Q8TBA6	p.Glu469Lys	rs1422161836	missense variant	-	NC_000014.9:g.92816335G>A	gnomAD
GOLGA5	Q8TBA6	p.Glu469Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92816336A>C	NCI-TCGA
GOLGA5	Q8TBA6	p.Leu471Pro	rs780447151	missense variant	-	NC_000014.9:g.92816342T>C	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Leu471Pro	rs780447151	missense variant	-	NC_000014.9:g.92816342T>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg472Trp	rs34964124	missense variant	-	NC_000014.9:g.92816344C>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Arg472Trp	rs34964124	missense variant	-	NC_000014.9:g.92816344C>T	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg472Gln	rs768904772	missense variant	-	NC_000014.9:g.92816345G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.His473Arg	rs961101058	missense variant	-	NC_000014.9:g.92816348A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu474Ter	COSM4816625	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92816350G>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Glu476Asp	rs774843932	missense variant	-	NC_000014.9:g.92816358G>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu476Gln	COSM70925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92816356G>C	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Arg479Thr	rs748363873	missense variant	-	NC_000014.9:g.92816366G>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu481Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.92816371G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Ile482Thr	rs772469310	missense variant	-	NC_000014.9:g.92816375T>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln483Arg	rs1380436185	missense variant	-	NC_000014.9:g.92816378A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln483Ter	rs1027821918	stop gained	-	NC_000014.9:g.92816377C>T	gnomAD
GOLGA5	Q8TBA6	p.Lys484Thr	rs773390037	missense variant	-	NC_000014.9:g.92816381A>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Met486Val	rs34139657	missense variant	-	NC_000014.9:g.92816386A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Met486Val	rs34139657	missense variant	-	NC_000014.9:g.92816386A>G	UniProt,dbSNP
GOLGA5	Q8TBA6	p.Met486Val	VAR_055860	missense variant	-	NC_000014.9:g.92816386A>G	UniProt
GOLGA5	Q8TBA6	p.Gly487Val	rs372309521	missense variant	-	NC_000014.9:g.92816390G>T	ESP,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ile489Leu	rs775306878	missense variant	-	NC_000014.9:g.92816395A>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ile489Met	rs1266671541	missense variant	-	NC_000014.9:g.92816397A>G	gnomAD
GOLGA5	Q8TBA6	p.Gln491Arg	rs1364158702	missense variant	-	NC_000014.9:g.92816402A>G	TOPMed
GOLGA5	Q8TBA6	p.Leu492Phe	rs762744806	missense variant	-	NC_000014.9:g.92816404C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Leu492Phe	rs762744806	missense variant	-	NC_000014.9:g.92816404C>T	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Glu495Lys	rs574595272	missense variant	-	NC_000014.9:g.92816413G>A	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Glu495Lys	rs574595272	missense variant	-	NC_000014.9:g.92816413G>A	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln497Arg	rs767198033	missense variant	-	NC_000014.9:g.92816420A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Met499Val	rs768687848	missense variant	-	NC_000014.9:g.92819711A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala501Pro	rs774102272	missense variant	-	NC_000014.9:g.92819717G>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln502Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92819720C>A	NCI-TCGA
GOLGA5	Q8TBA6	p.Val504Leu	rs761618350	missense variant	-	NC_000014.9:g.92819726G>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asn505Ser	rs750078264	missense variant	-	NC_000014.9:g.92819730A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ala507GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.92819733A>-	NCI-TCGA
GOLGA5	Q8TBA6	p.Glu508Gly	rs765789948	missense variant	-	NC_000014.9:g.92819739A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ala510Val	rs753434405	missense variant	-	NC_000014.9:g.92819745C>T	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu517Met	rs371275643	missense variant	-	NC_000014.9:g.92819765C>A	ESP,TOPMed
GOLGA5	Q8TBA6	p.His518Arg	rs376134456	missense variant	-	NC_000014.9:g.92819769A>G	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.His518Tyr	rs1309250443	missense variant	-	NC_000014.9:g.92819768C>T	gnomAD
GOLGA5	Q8TBA6	p.Asp519Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92819771G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Ile521Val	rs530201893	missense variant	-	NC_000014.9:g.92819777A>G	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ala522Thr	rs542309479	missense variant	-	NC_000014.9:g.92819780G>A	1000Genomes
GOLGA5	Q8TBA6	p.Ala522Gly	rs758851472	missense variant	-	NC_000014.9:g.92819781C>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Lys525Gln	rs199898697	missense variant	-	NC_000014.9:g.92819789A>C	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ala526Thr	rs202127537	missense variant	-	NC_000014.9:g.92819792G>A	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser527Phe	rs1399251474	missense variant	-	NC_000014.9:g.92819796C>T	TOPMed
GOLGA5	Q8TBA6	p.Leu535Pro	rs746000642	missense variant	-	NC_000014.9:g.92819820T>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Glu536Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92819824G>C	NCI-TCGA
GOLGA5	Q8TBA6	p.Arg537Gln	rs774284212	missense variant	-	NC_000014.9:g.92819826G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg537Ter	COSM5648198	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92819825C>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Glu541Ala	rs767069091	missense variant	-	NC_000014.9:g.92824547A>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Glu541Gly	rs767069091	missense variant	-	NC_000014.9:g.92824547A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.His543Arg	rs776362976	missense variant	-	NC_000014.9:g.92824553A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ile545Val	rs1282447965	missense variant	-	NC_000014.9:g.92824558A>G	gnomAD
GOLGA5	Q8TBA6	p.Ile545Thr	rs764836988	missense variant	-	NC_000014.9:g.92824559T>C	ExAC
GOLGA5	Q8TBA6	p.Glu546Gly	rs147777021	missense variant	-	NC_000014.9:g.92824562A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu547Lys	rs763532785	missense variant	-	NC_000014.9:g.92824564G>A	ExAC,TOPMed
GOLGA5	Q8TBA6	p.Asp548Val	rs1270138880	missense variant	-	NC_000014.9:g.92824568A>T	TOPMed
GOLGA5	Q8TBA6	p.Asp548Asn	rs1229070924	missense variant	-	NC_000014.9:g.92824567G>A	gnomAD
GOLGA5	Q8TBA6	p.Tyr550Cys	rs1326839839	missense variant	-	NC_000014.9:g.92824574A>G	gnomAD
GOLGA5	Q8TBA6	p.Arg551Gln	rs764740502	missense variant	-	NC_000014.9:g.92824577G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg551Ter	COSM3499029	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92824576C>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Arg551Gln	rs764740502	missense variant	-	NC_000014.9:g.92824577G>A	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Thr552Ser	rs751830866	missense variant	-	NC_000014.9:g.92824579A>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Lys553Glu	rs1184853472	missense variant	-	NC_000014.9:g.92824582A>G	gnomAD
GOLGA5	Q8TBA6	p.Lys553Asn	rs377202944	missense variant	-	NC_000014.9:g.92824584G>T	ESP,gnomAD
GOLGA5	Q8TBA6	p.Thr555Ile	rs767567675	missense variant	-	NC_000014.9:g.92824589C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Leu556Phe	rs183909467	missense variant	-	NC_000014.9:g.92824593G>C	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu556Met	rs1258324902	missense variant	-	NC_000014.9:g.92824591T>A	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser558Arg	rs756384689	missense variant	-	NC_000014.9:g.92824599C>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg559Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92824601G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Lys561Arg	rs780083685	missense variant	-	NC_000014.9:g.92824607A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asp562Ala	rs749407535	missense variant	-	NC_000014.9:g.92824610A>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg563Gln	rs577229286	missense variant	-	NC_000014.9:g.92824613G>A	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg563Ter	COSM5012816	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92824612C>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Glu565Lys	rs746719989	missense variant	-	NC_000014.9:g.92824618G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu566Ala	rs776361285	missense variant	-	NC_000014.9:g.92824622A>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Glu566Gln	rs770767639	missense variant	-	NC_000014.9:g.92824621G>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu566Lys	rs770767639	missense variant	-	NC_000014.9:g.92824621G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu566Ter	COSM958905	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.92824621G>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Glu566Asp	rs1299146844	missense variant	-	NC_000014.9:g.92824623A>C	TOPMed
GOLGA5	Q8TBA6	p.Gln568Lys	rs745505073	missense variant	-	NC_000014.9:g.92824627C>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Leu570Val	rs1230016109	missense variant	-	NC_000014.9:g.92824633C>G	gnomAD
GOLGA5	Q8TBA6	p.Gln573Arg	rs1370956688	missense variant	-	NC_000014.9:g.92824643A>G	TOPMed
GOLGA5	Q8TBA6	p.Thr575Ala	rs373947383	missense variant	-	NC_000014.9:g.92833125A>G	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Thr578Asn	rs1227049786	missense variant	-	NC_000014.9:g.92833135C>A	gnomAD
GOLGA5	Q8TBA6	p.Leu579Ser	rs745699272	missense variant	-	NC_000014.9:g.92833138T>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Leu579Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92833137T>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Ser580Arg	rs368464122	missense variant	-	NC_000014.9:g.92833140A>C	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser583Ile	rs748751783	missense variant	-	NC_000014.9:g.92833150G>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser583Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92833149A>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Gln584His	rs975314471	missense variant	-	NC_000014.9:g.92833154G>T	TOPMed
GOLGA5	Q8TBA6	p.Gln584Arg	rs1360245993	missense variant	-	NC_000014.9:g.92833153A>G	gnomAD
GOLGA5	Q8TBA6	p.Gln584Lys	COSM1300909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92833152C>A	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Arg590Gln	rs375552804	missense variant	-	NC_000014.9:g.92833171G>A	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Arg590Ter	rs1248975964	stop gained	-	NC_000014.9:g.92833170C>T	gnomAD
GOLGA5	Q8TBA6	p.Arg590Ter	rs1248975964	stop gained	-	NC_000014.9:g.92833170C>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Arg590Gln	rs375552804	missense variant	-	NC_000014.9:g.92833171G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.His592Arg	rs75743171	missense variant	-	NC_000014.9:g.92833177A>G	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln593Leu	rs200448653	missense variant	-	NC_000014.9:g.92833180A>T	1000Genomes,TOPMed
GOLGA5	Q8TBA6	p.Gln593Lys	COSM3793970	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92833179C>A	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Thr595Ile	rs201106133	missense variant	-	NC_000014.9:g.92833186C>T	TOPMed
GOLGA5	Q8TBA6	p.Thr595Ala	rs542220913	missense variant	-	NC_000014.9:g.92833185A>G	1000Genomes
GOLGA5	Q8TBA6	p.Glu596Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92833189A>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Thr597Ile	rs1295643417	missense variant	-	NC_000014.9:g.92833192C>T	TOPMed
GOLGA5	Q8TBA6	p.Thr597Ala	rs761046100	missense variant	-	NC_000014.9:g.92833191A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Leu598Val	rs754061164	missense variant	-	NC_000014.9:g.92833194C>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln600Arg	rs189806779	missense variant	-	NC_000014.9:g.92833201A>G	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln600Pro	rs189806779	missense variant	-	NC_000014.9:g.92833201A>C	1000Genomes,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Met604Ile	rs757190774	missense variant	-	NC_000014.9:g.92833214G>C	ExAC
GOLGA5	Q8TBA6	p.Leu605Val	rs781023627	missense variant	-	NC_000014.9:g.92833215C>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser607Arg	rs1294823138	missense variant	-	NC_000014.9:g.92833221A>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu611Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.92833233G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Lys612Asn	COSM958907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92833238G>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Leu615Arg	rs1308633240	missense variant	-	NC_000014.9:g.92833246T>G	TOPMed
GOLGA5	Q8TBA6	p.Val616Gly	rs750194903	missense variant	-	NC_000014.9:g.92833249T>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Gln618Glu	rs780060033	missense variant	-	NC_000014.9:g.92833254C>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln618Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.92833254C>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Glu620Lys	rs1292463206	missense variant	-	NC_000014.9:g.92833260G>A	gnomAD
GOLGA5	Q8TBA6	p.Arg621Cys	rs143154450	missense variant	-	NC_000014.9:g.92833263C>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Arg621Cys	rs143154450	missense variant	-	NC_000014.9:g.92833263C>T	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg621His	rs368512639	missense variant	-	NC_000014.9:g.92833264G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg621Leu	rs368512639	missense variant	-	NC_000014.9:g.92833264G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu623Lys	rs773720304	missense variant	-	NC_000014.9:g.92833269G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu623Lys	rs773720304	missense variant	-	NC_000014.9:g.92833269G>A	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Gln624Glu	rs760960210	missense variant	-	NC_000014.9:g.92833272C>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asn627Ser	rs1456574436	missense variant	-	NC_000014.9:g.92833282A>G	gnomAD
GOLGA5	Q8TBA6	p.Ala629Pro	rs777041385	missense variant	-	NC_000014.9:g.92833287G>C	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala629Thr	rs777041385	missense variant	-	NC_000014.9:g.92833287G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala629Thr	rs777041385	missense variant	-	NC_000014.9:g.92833287G>A	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser632Arg	rs1313009190	missense variant	-	NC_000014.9:g.92833296A>C	TOPMed
GOLGA5	Q8TBA6	p.Ser633Cys	rs759785751	missense variant	-	NC_000014.9:g.92833299A>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ser633Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92833299A>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Ser634Asn	rs752784061	missense variant	-	NC_000014.9:g.92833303G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ser637Pro	rs1345012344	missense variant	-	NC_000014.9:g.92833311T>C	TOPMed
GOLGA5	Q8TBA6	p.Ser638Pro	rs199767772	missense variant	-	NC_000014.9:g.92833314T>C	1000Genomes
GOLGA5	Q8TBA6	p.Ser638Leu	rs1311369172	missense variant	-	NC_000014.9:g.92833315C>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser638Leu	rs1311369172	missense variant	-	NC_000014.9:g.92833315C>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ile639TyrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.92833316_92833320GATTA>-	NCI-TCGA
GOLGA5	Q8TBA6	p.Asn640Ser	rs374813643	missense variant	-	NC_000014.9:g.92833321A>G	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asn640Asp	rs1246493557	missense variant	-	NC_000014.9:g.92833320A>G	gnomAD
GOLGA5	Q8TBA6	p.Met641Ile	rs138658557	missense variant	-	NC_000014.9:g.92833325G>T	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Met641Thr	rs750391519	missense variant	-	NC_000014.9:g.92833324T>C	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Met641Val	rs1335944601	missense variant	-	NC_000014.9:g.92833323A>G	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gly643Arg	rs368756097	missense variant	-	NC_000014.9:g.92833329G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ile644Val	rs1205854776	missense variant	-	NC_000014.9:g.92833332A>G	gnomAD
GOLGA5	Q8TBA6	p.Asp645Asn	rs1173606529	missense variant	-	NC_000014.9:g.92833335G>A	TOPMed
GOLGA5	Q8TBA6	p.Asp645AlaPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000014.9:g.92833335_92833336insCTTAAAGTTTTATTGGT	NCI-TCGA
GOLGA5	Q8TBA6	p.Asn646Ser	rs182638115	missense variant	-	NC_000014.9:g.92833339A>G	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gly647Arg	rs150295315	missense variant	-	NC_000014.9:g.92833341G>C	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gly647Ser	rs150295315	missense variant	-	NC_000014.9:g.92833341G>A	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Glu648Gly	rs1189857632	missense variant	-	NC_000014.9:g.92833345A>G	gnomAD
GOLGA5	Q8TBA6	p.Gly649Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92833347G>T	NCI-TCGA
GOLGA5	Q8TBA6	p.Thr650Ile	rs754738825	missense variant	-	NC_000014.9:g.92835562C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg651His	rs142072754	missense variant	-	NC_000014.9:g.92835565G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg651Cys	rs927673467	missense variant	-	NC_000014.9:g.92835564C>T	TOPMed
GOLGA5	Q8TBA6	p.Arg651Pro	rs142072754	missense variant	-	NC_000014.9:g.92835565G>C	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asn654Ser	rs1224641847	missense variant	-	NC_000014.9:g.92835574A>G	gnomAD
GOLGA5	Q8TBA6	p.Val655Ile	rs757725083	missense variant	-	NC_000014.9:g.92835576G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asp661Glu	rs746185458	missense variant	-	NC_000014.9:g.92835596C>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Thr662Ala	rs1341767119	missense variant	-	NC_000014.9:g.92835597A>G	gnomAD
GOLGA5	Q8TBA6	p.Thr664Ser	rs1254186509	missense variant	-	NC_000014.9:g.92835604C>G	gnomAD
GOLGA5	Q8TBA6	p.Asn665Ser	rs369792091	missense variant	-	NC_000014.9:g.92835607A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asn665Lys	rs138230836	missense variant	-	NC_000014.9:g.92835608T>G	ESP,TOPMed
GOLGA5	Q8TBA6	p.Leu666Met	COSM958908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92835609C>A	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Met669Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92835618A>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Gly671Arg	rs769038230	missense variant	-	NC_000014.9:g.92835624G>A	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Gly671Arg	rs769038230	missense variant	-	NC_000014.9:g.92835624G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg674Leu	rs541378166	missense variant	-	NC_000014.9:g.92835634G>T	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg674Cys	rs774532511	missense variant	-	NC_000014.9:g.92835633C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg674His	rs541378166	missense variant	-	NC_000014.9:g.92835634G>A	1000Genomes,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg674Cys	rs774532511	missense variant	-	NC_000014.9:g.92835633C>T	NCI-TCGA,NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser678Ile	COSM699062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92835646G>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Ser679Leu	rs1373720275	missense variant	-	NC_000014.9:g.92835649C>T	TOPMed
GOLGA5	Q8TBA6	p.Ile680Val	rs373869475	missense variant	-	NC_000014.9:g.92835651A>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Ile680Val	rs373869475	missense variant	-	NC_000014.9:g.92835651A>G	ESP,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Asp681Asn	rs1427482774	missense variant	-	NC_000014.9:g.92835654G>A	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln682His	rs1354716414	missense variant	-	NC_000014.9:g.92835659G>C	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln682Arg	rs759581860	missense variant	-	NC_000014.9:g.92835658A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Gln682His	rs1354716414	missense variant	-	NC_000014.9:g.92835659G>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg686Leu	rs769812805	missense variant	-	NC_000014.9:g.92837391G>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg686His	rs769812805	missense variant	-	NC_000014.9:g.92837391G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg686Ser	rs372954517	missense variant	-	NC_000014.9:g.92837390C>A	ESP,TOPMed
GOLGA5	Q8TBA6	p.Arg686Cys	COSM1371631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.92837390C>T	NCI-TCGA Cosmic
GOLGA5	Q8TBA6	p.Gly688Glu	rs141819334	missense variant	-	NC_000014.9:g.92837397G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ile689Met	rs1363001397	missense variant	-	NC_000014.9:g.92837401T>G	gnomAD
GOLGA5	Q8TBA6	p.Leu691Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92837406T>C	NCI-TCGA
GOLGA5	Q8TBA6	p.Arg692Gln	rs762762631	missense variant	-	NC_000014.9:g.92837409G>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg692Ter	rs1310378358	stop gained	-	NC_000014.9:g.92837408C>T	gnomAD
GOLGA5	Q8TBA6	p.Tyr694His	rs1214052463	missense variant	-	NC_000014.9:g.92837414T>C	gnomAD
GOLGA5	Q8TBA6	p.Pro695Ser	rs1403123029	missense variant	-	NC_000014.9:g.92837417C>T	gnomAD
GOLGA5	Q8TBA6	p.Ile696Leu	rs150694057	missense variant	-	NC_000014.9:g.92837420A>T	ESP,ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ile696Lys	rs751218202	missense variant	-	NC_000014.9:g.92837421T>A	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ala697Val	rs1242157285	missense variant	-	NC_000014.9:g.92837424C>T	TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Arg698Gln	rs749987297	missense variant	-	NC_000014.9:g.92837427G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Arg698Ter	rs766925640	stop gained	-	NC_000014.9:g.92837426C>T	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ile702Val	rs1166032369	missense variant	-	NC_000014.9:g.92837438A>G	gnomAD
GOLGA5	Q8TBA6	p.Ile703Met	rs780631977	missense variant	-	NC_000014.9:g.92837443A>G	ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Ile703Thr	rs1456109284	missense variant	-	NC_000014.9:g.92837442T>C	gnomAD
GOLGA5	Q8TBA6	p.Met705Val	rs754197576	missense variant	-	NC_000014.9:g.92837447A>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Met705IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.92837439_92837440insTA	NCI-TCGA
GOLGA5	Q8TBA6	p.His709Gln	rs747007821	missense variant	-	NC_000014.9:g.92839377C>G	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ile714Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92839390A>G	NCI-TCGA
GOLGA5	Q8TBA6	p.Val715Ile	rs757362596	missense variant	-	NC_000014.9:g.92839393G>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Pro721Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.92839412C>T	NCI-TCGA
GOLGA5	Q8TBA6	p.His725Tyr	rs1482279506	missense variant	-	NC_000014.9:g.92839423C>T	gnomAD
GOLGA5	Q8TBA6	p.Asp726Tyr	rs140039482	missense variant	-	NC_000014.9:g.92839426G>T	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Asp726Asn	rs140039482	missense variant	-	NC_000014.9:g.92839426G>A	ESP,ExAC,TOPMed,gnomAD
GOLGA5	Q8TBA6	p.Tyr729Asn	rs760307690	missense variant	-	NC_000014.9:g.92839435T>A	ExAC,gnomAD
GOLGA5	Q8TBA6	p.Ter732Leu	rs765895691	stop lost	-	NC_000014.9:g.92839445G>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser2Trp	rs774176798	missense variant	-	NC_000001.11:g.24319556C>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Leu5Phe	rs771930393	missense variant	-	NC_000001.11:g.24319564C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Asp6Gly	rs1366036460	missense variant	-	NC_000001.11:g.24319568A>G	gnomAD
GRHL3	Q8TE85	p.Arg8Ser	rs1018324786	missense variant	-	NC_000001.11:g.24331432G>T	TOPMed
GRHL3	Q8TE85	p.Arg8Lys	rs372113854	missense variant	-	NC_000001.11:g.24331431G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val10Met	rs752023859	missense variant	-	NC_000001.11:g.24331436G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Arg11Trp	rs202164828	missense variant	-	NC_000001.11:g.24331439C>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg11Gln	rs142248927	missense variant	-	NC_000001.11:g.24331440G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Lys14Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24331450G>T	NCI-TCGA
GRHL3	Q8TE85	p.Asp16Asn	rs753938538	missense variant	-	NC_000001.11:g.24331454G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro17Leu	rs562846657	missense variant	-	NC_000001.11:g.24331458C>T	1000Genomes,ExAC,gnomAD
GRHL3	Q8TE85	p.Pro17SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.24331456_24331457CC>-	NCI-TCGA
GRHL3	Q8TE85	p.Val18Ile	rs779698988	missense variant	-	NC_000001.11:g.24331460G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Phe23Val	rs746854063	missense variant	-	NC_000001.11:g.24331475T>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Phe23Tyr	rs768472056	missense variant	-	NC_000001.11:g.24331476T>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Phe23Leu	rs1292452067	missense variant	-	NC_000001.11:g.24331477C>A	TOPMed
GRHL3	Q8TE85	p.Ser24Cys	rs1479877554	missense variant	-	NC_000001.11:g.24331479C>G	gnomAD
GRHL3	Q8TE85	p.Tyr25His	rs922269013	missense variant	-	NC_000001.11:g.24331481T>C	TOPMed
GRHL3	Q8TE85	p.Thr26Ala	rs781059697	missense variant	-	NC_000001.11:g.24331484A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Trp32Ser	rs1450981573	missense variant	-	NC_000001.11:g.24331503G>C	gnomAD
GRHL3	Q8TE85	p.Thr34Met	rs149583743	missense variant	-	NC_000001.11:g.24331509C>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr34Ala	rs138155321	missense variant	-	NC_000001.11:g.24331508A>G	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Tyr35Cys	rs1247351011	missense variant	-	NC_000001.11:g.24331512A>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu37Ter	rs1472254639	stop gained	-	NC_000001.11:g.24331517G>T	TOPMed
GRHL3	Q8TE85	p.Asn38Lys	rs1334115448	missense variant	-	NC_000001.11:g.24331522C>G	gnomAD
GRHL3	Q8TE85	p.Asn38Thr	rs774828784	missense variant	-	NC_000001.11:g.24331521A>C	ExAC,gnomAD
GRHL3	Q8TE85	p.Pro39Leu	rs759937117	missense variant	-	NC_000001.11:g.24331524C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro39Gln	rs759937117	missense variant	-	NC_000001.11:g.24331524C>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Leu40Phe	rs1351260163	missense variant	-	NC_000001.11:g.24331528G>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr41Ile	rs776078194	missense variant	-	NC_000001.11:g.24331530C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala42Thr	rs1289250679	missense variant	-	NC_000001.11:g.24331532G>A	gnomAD
GRHL3	Q8TE85	p.Thr44Ile	rs761264511	missense variant	-	NC_000001.11:g.24331539C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala46Pro	rs764076634	missense variant	-	NC_000001.11:g.24331544G>C	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala46Ser	rs764076634	missense variant	-	NC_000001.11:g.24331544G>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Met47Thr	rs754006408	missense variant	-	NC_000001.11:g.24331548T>C	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val50Ile	rs757398629	missense variant	-	NC_000001.11:g.24331556G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn51Ser	rs369794868	missense variant	-	NC_000001.11:g.24331560A>G	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn51Thr	rs369794868	missense variant	-	NC_000001.11:g.24331560A>C	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asp53Glu	rs754709945	missense variant	-	NC_000001.11:g.24331567T>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asp54Glu	rs780971661	missense variant	-	NC_000001.11:g.24331570T>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Asp55Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24331571G>A	NCI-TCGA
GRHL3	Q8TE85	p.Asp55Glu	rs2486668	missense variant	-	NC_000001.11:g.24331573C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ser56Arg	rs777127826	missense variant	-	NC_000001.11:g.24331576T>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Ala58Val	rs748873243	missense variant	-	NC_000001.11:g.24331581C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Ala58Glu	rs748873243	missense variant	-	NC_000001.11:g.24331581C>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Ala59Gly	rs774094467	missense variant	-	NC_000001.11:g.24331584C>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser61Arg	rs745525353	missense variant	-	NC_000001.11:g.24331591C>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Phe62Leu	rs772495652	missense variant	-	NC_000001.11:g.24331592T>C	ExAC,gnomAD
GRHL3	Q8TE85	p.Tyr64Cys	rs776061672	missense variant	-	NC_000001.11:g.24331599A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Tyr66Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24331604T>A	NCI-TCGA
GRHL3	Q8TE85	p.Tyr66Cys	rs761071774	missense variant	-	NC_000001.11:g.24331605A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Met68Val	rs764709319	missense variant	-	NC_000001.11:g.24331610A>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly69Cys	COSM3400566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24334645G>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Pro70Ser	rs186239168	missense variant	-	NC_000001.11:g.24334648C>T	1000Genomes,ExAC,gnomAD
GRHL3	Q8TE85	p.Pro70Thr	rs186239168	missense variant	-	NC_000001.11:g.24334648C>A	1000Genomes,ExAC,gnomAD
GRHL3	Q8TE85	p.Glu72Asp	COSM1584342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24334656G>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Arg74Trp	rs370545374	missense variant	-	NC_000001.11:g.24334660C>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg74Gln	rs534391501	missense variant	-	NC_000001.11:g.24334661G>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ile75Leu	rs1314224679	missense variant	-	NC_000001.11:g.24334663A>T	TOPMed
GRHL3	Q8TE85	p.Ile75Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24334663A>G	NCI-TCGA
GRHL3	Q8TE85	p.Leu76Phe	rs1322413381	missense variant	-	NC_000001.11:g.24334668G>T	TOPMed
GRHL3	Q8TE85	p.Ser77Pro	rs1247079986	missense variant	-	NC_000001.11:g.24334669T>C	TOPMed
GRHL3	Q8TE85	p.Ser77Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24334670C>A	NCI-TCGA
GRHL3	Q8TE85	p.Ser77Phe	rs751765229	missense variant	-	NC_000001.11:g.24334670C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Gly82Asp	rs1304511763	missense variant	-	NC_000001.11:g.24334685G>A	gnomAD
GRHL3	Q8TE85	p.Asp85AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.24334694A>-	NCI-TCGA
GRHL3	Q8TE85	p.Gln86Lys	rs373650845	missense variant	-	NC_000001.11:g.24334696C>A	ESP,ExAC,gnomAD
GRHL3	Q8TE85	p.Gln86Glu	rs373650845	missense variant	-	NC_000001.11:g.24334696C>G	ESP,ExAC,gnomAD
GRHL3	Q8TE85	p.Lys88Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24334704G>T	NCI-TCGA
GRHL3	Q8TE85	p.Arg89Gly	rs987079452	missense variant	-	NC_000001.11:g.24334705A>G	TOPMed
GRHL3	Q8TE85	p.Tyr90Asn	rs1282808266	missense variant	-	NC_000001.11:g.24336483T>A	gnomAD
GRHL3	Q8TE85	p.Tyr91His	rs1217826782	missense variant	-	NC_000001.11:g.24336486T>C	gnomAD
GRHL3	Q8TE85	p.His92Pro	rs1288520206	missense variant	-	NC_000001.11:g.24336490A>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.His92Arg	rs1288520206	missense variant	-	NC_000001.11:g.24336490A>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly93Cys	rs372619643	missense variant	-	NC_000001.11:g.24336492G>T	ESP,ExAC,gnomAD
GRHL3	Q8TE85	p.Met94Val	rs960596554	missense variant	-	NC_000001.11:g.24336495A>G	TOPMed
GRHL3	Q8TE85	p.Tyr96His	rs750417670	missense variant	-	NC_000001.11:g.24336501T>C	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Tyr96Asp	rs750417670	missense variant	-	NC_000001.11:g.24336501T>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu97Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24336504G>C	NCI-TCGA
GRHL3	Q8TE85	p.Thr98Ala	rs779435159	missense variant	-	NC_000001.11:g.24336507A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Thr98Met	rs372226155	missense variant	-	NC_000001.11:g.24336508C>T	1000Genomes,ESP,ExAC,gnomAD
GRHL3	Q8TE85	p.Leu100Phe	rs781600093	missense variant	-	NC_000001.11:g.24336513C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Thr101Ile	rs139478329	missense variant	-	NC_000001.11:g.24336517C>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro102Thr	COSM679568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336519C>A	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Leu103Phe	rs1159028728	missense variant	-	NC_000001.11:g.24336522C>T	gnomAD
GRHL3	Q8TE85	p.Leu103Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24336522C>A	NCI-TCGA
GRHL3	Q8TE85	p.Leu103Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24336523T>G	NCI-TCGA
GRHL3	Q8TE85	p.Ser105Asn	rs756505220	missense variant	-	NC_000001.11:g.24336529G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Pro106Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24336532C>T	NCI-TCGA
GRHL3	Q8TE85	p.Pro106His	rs778208867	missense variant	-	NC_000001.11:g.24336532C>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Thr107Ala	rs1436653299	missense variant	-	NC_000001.11:g.24336534A>G	TOPMed
GRHL3	Q8TE85	p.His108Gln	rs929115407	missense variant	-	NC_000001.11:g.24336539C>A	gnomAD
GRHL3	Q8TE85	p.Leu109Phe	rs1483524217	missense variant	-	NC_000001.11:g.24336540C>T	gnomAD
GRHL3	Q8TE85	p.Phe112Ser	rs146706821	missense variant	-	NC_000001.11:g.24336550T>C	ESP
GRHL3	Q8TE85	p.Thr114Ala	rs774357267	missense variant	-	NC_000001.11:g.24336555A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Glu115Asp	COSM1584341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336560G>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Val117Leu	rs186914295	missense variant	-	NC_000001.11:g.24336564G>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val117Met	rs186914295	missense variant	-	NC_000001.11:g.24336564G>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ser118Thr	rs761658802	missense variant	-	NC_000001.11:g.24336567T>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Gly119Ala	rs765145591	missense variant	-	NC_000001.11:g.24336571G>C	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Tyr123His	rs1290894366	missense variant	-	NC_000001.11:g.24336582T>C	gnomAD
GRHL3	Q8TE85	p.Pro124Leu	rs773225729	missense variant	-	NC_000001.11:g.24336586C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Asp125His	rs1202538444	missense variant	-	NC_000001.11:g.24336588G>C	gnomAD
GRHL3	Q8TE85	p.Asp125Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24336588G>T	NCI-TCGA
GRHL3	Q8TE85	p.Leu127Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24336595T>C	NCI-TCGA
GRHL3	Q8TE85	p.Lys128Glu	rs1487812655	missense variant	-	NC_000001.11:g.24336597A>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu136Lys	rs376281609	missense variant	-	NC_000001.11:g.24336621G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly137Val	rs751080248	missense variant	-	NC_000001.11:g.24336625G>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Gly137Trp	rs1382071647	missense variant	-	NC_000001.11:g.24336624G>T	gnomAD
GRHL3	Q8TE85	p.Ala138Val	rs147738765	missense variant	-	NC_000001.11:g.24336628C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala138Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24336628C>G	NCI-TCGA
GRHL3	Q8TE85	p.Ala138GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.24336621_24336622insA	NCI-TCGA
GRHL3	Q8TE85	p.Ala138Pro	rs939598160	missense variant	-	NC_000001.11:g.24336627G>C	TOPMed
GRHL3	Q8TE85	p.Pro140Ser	rs369259121	missense variant	-	NC_000001.11:g.24336633C>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro142Arg	rs994104716	missense variant	-	NC_000001.11:g.24336640C>G	TOPMed
GRHL3	Q8TE85	p.Gly143Ser	rs148080626	missense variant	-	NC_000001.11:g.24336642G>A	ESP,TOPMed
GRHL3	Q8TE85	p.Ala145Thr	rs756415680	missense variant	-	NC_000001.11:g.24336648G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Ala146Pro	rs1446860434	missense variant	-	NC_000001.11:g.24336651G>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro147Ser	rs778111145	missense variant	-	NC_000001.11:g.24336654C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Pro147Ala	rs778111145	missense variant	-	NC_000001.11:g.24336654C>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Pro147Leu	COSM3486487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336655C>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Pro149Ser	rs140960821	missense variant	-	NC_000001.11:g.24336660C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala150Val	rs1245724588	missense variant	-	NC_000001.11:g.24336664C>T	gnomAD
GRHL3	Q8TE85	p.Gly151Cys	COSM679567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336666G>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Leu155Val	rs1213099454	missense variant	-	NC_000001.11:g.24336678C>G	gnomAD
GRHL3	Q8TE85	p.Gly158Cys	rs371889064	missense variant	-	NC_000001.11:g.24336687G>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly158Ser	rs371889064	missense variant	-	NC_000001.11:g.24336687G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val160Ala	rs34637004	missense variant	-	NC_000001.11:g.24336694T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val160Ala	RCV000542635	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24336694T>C	ClinVar
GRHL3	Q8TE85	p.Asp161Tyr	rs1459881262	missense variant	-	NC_000001.11:g.24336696G>T	gnomAD
GRHL3	Q8TE85	p.Ser162Thr	rs1397299503	missense variant	-	NC_000001.11:g.24336700G>C	TOPMed
GRHL3	Q8TE85	p.Ser162Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24336700G>A	NCI-TCGA
GRHL3	Q8TE85	p.Tyr163Asp	rs1186587606	missense variant	-	NC_000001.11:g.24336702T>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Tyr163His	rs1186587606	missense variant	-	NC_000001.11:g.24336702T>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro166Leu	COSM2149733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24336712C>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Thr167Ile	rs1473650305	missense variant	-	NC_000001.11:g.24336715C>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr167Pro	rs762962991	missense variant	-	NC_000001.11:g.24336714A>C	ExAC,gnomAD
GRHL3	Q8TE85	p.Thr167Asn	rs1473650305	missense variant	-	NC_000001.11:g.24336715C>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr168Ala	rs1297265972	missense variant	-	NC_000001.11:g.24336717A>G	TOPMed
GRHL3	Q8TE85	p.Met170Ile	rs758924862	missense variant	-	NC_000001.11:g.24336725G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Met170Thr	rs774380464	missense variant	-	NC_000001.11:g.24336724T>C	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asp172Glu	rs752284034	missense variant	-	NC_000001.11:g.24336731T>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Gly174Val	rs755826508	missense variant	-	NC_000001.11:g.24336736G>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Leu176Pro	rs1269872006	missense variant	-	NC_000001.11:g.24336742T>C	gnomAD
GRHL3	Q8TE85	p.Ser178Phe	rs1241614486	missense variant	-	NC_000001.11:g.24336748C>T	TOPMed
GRHL3	Q8TE85	p.Leu179Met	rs368857465	missense variant	-	NC_000001.11:g.24336750T>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Phe180Leu	rs757749100	missense variant	-	NC_000001.11:g.24336755T>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Phe180Leu	rs373482025	missense variant	-	NC_000001.11:g.24336753T>C	ESP,ExAC,gnomAD
GRHL3	Q8TE85	p.Glu181Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24336756G>A	NCI-TCGA
GRHL3	Q8TE85	p.Ser182Asn	rs1322914051	missense variant	-	NC_000001.11:g.24336760G>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Ile183Val	rs1256749784	missense variant	-	NC_000001.11:g.24336762A>G	gnomAD
GRHL3	Q8TE85	p.His184Asp	rs1166068949	missense variant	-	NC_000001.11:g.24336765C>G	TOPMed
GRHL3	Q8TE85	p.Pro187Leu	rs116674530	missense variant	-	NC_000001.11:g.24336775C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro188Ala	rs1195215607	missense variant	-	NC_000001.11:g.24336777C>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr189Ala	rs1426674885	missense variant	-	NC_000001.11:g.24336780A>G	gnomAD
GRHL3	Q8TE85	p.Arg191His	rs150060454	missense variant	-	NC_000001.11:g.24336787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg191Cys	rs200674358	missense variant	-	NC_000001.11:g.24336786C>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro194Ser	rs1404941388	missense variant	-	NC_000001.11:g.24336795C>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Lys199Glu	rs777682242	missense variant	-	NC_000001.11:g.24336810A>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Gln203Arg	rs770785729	missense variant	-	NC_000001.11:g.24336823A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser205Leu	rs201073516	missense variant	-	NC_000001.11:g.24337079C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Leu207Pro	rs1439857250	missense variant	-	NC_000001.11:g.24337085T>C	TOPMed
GRHL3	Q8TE85	p.Leu207Phe	rs776206679	missense variant	-	NC_000001.11:g.24337084C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser215Phe	rs1474236293	missense variant	-	NC_000001.11:g.24337109C>T	TOPMed
GRHL3	Q8TE85	p.Ser215Ala	rs1396323794	missense variant	-	NC_000001.11:g.24337108T>G	TOPMed
GRHL3	Q8TE85	p.Pro216Ser	rs141633634	missense variant	-	NC_000001.11:g.24337111C>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro216Arg	rs149044763	missense variant	-	NC_000001.11:g.24337112C>G	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro216Leu	rs149044763	missense variant	-	NC_000001.11:g.24337112C>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu217Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24337115A>G	NCI-TCGA
GRHL3	Q8TE85	p.Pro218Thr	rs767713621	missense variant	-	NC_000001.11:g.24337117C>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Pro218Leu	rs1320885412	missense variant	-	NC_000001.11:g.24337118C>T	gnomAD
GRHL3	Q8TE85	p.Pro219Ala	rs752861672	missense variant	-	NC_000001.11:g.24337120C>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro219Ser	rs752861672	missense variant	-	NC_000001.11:g.24337120C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Cys220Tyr	rs370153007	missense variant	-	NC_000001.11:g.24337124G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro221Ser	rs1197416225	missense variant	-	NC_000001.11:g.24337126C>T	gnomAD
GRHL3	Q8TE85	p.Pro221Arg	rs745712974	missense variant	-	NC_000001.11:g.24337127C>G	ExAC
GRHL3	Q8TE85	p.Asp223Gly	rs1239346761	missense variant	-	NC_000001.11:g.24337133A>G	gnomAD
GRHL3	Q8TE85	p.Asp223Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24337132G>A	NCI-TCGA
GRHL3	Q8TE85	p.Tyr224Cys	rs758217836	missense variant	-	NC_000001.11:g.24337136A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Tyr224Ser	rs758217836	missense variant	-	NC_000001.11:g.24337136A>C	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser226AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.24337137C>-	NCI-TCGA
GRHL3	Q8TE85	p.Glu232Gln	COSM425844	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24337643G>C	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Tyr233Cys	rs760190846	missense variant	-	NC_000001.11:g.24337647A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Leu235Val	rs1489259284	missense variant	-	NC_000001.11:g.24337652C>G	gnomAD
GRHL3	Q8TE85	p.Gly236Ser	rs1425944925	missense variant	-	NC_000001.11:g.24337655G>A	gnomAD
GRHL3	Q8TE85	p.Pro238Ser	rs372569349	missense variant	-	NC_000001.11:g.24337661C>T	ESP,ExAC,gnomAD
GRHL3	Q8TE85	p.Lys239GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.24337658_24337659insC	NCI-TCGA
GRHL3	Q8TE85	p.Lys239Arg	rs756255609	missense variant	-	NC_000001.11:g.24337665A>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala240Val	rs1466382514	missense variant	-	NC_000001.11:g.24337668C>T	gnomAD
GRHL3	Q8TE85	p.Lys244Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24337679A>G	NCI-TCGA
GRHL3	Q8TE85	p.Gly246Ser	rs764334396	missense variant	-	NC_000001.11:g.24337685G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Glu247Lys	rs1399079412	missense variant	-	NC_000001.11:g.24337688G>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala251Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24337700G>T	NCI-TCGA
GRHL3	Q8TE85	p.Ala251Val	rs150142672	missense variant	-	NC_000001.11:g.24337701C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly256Arg	rs1301221523	missense variant	-	NC_000001.11:g.24337715G>C	gnomAD
GRHL3	Q8TE85	p.Gln257Leu	rs1313246902	missense variant	-	NC_000001.11:g.24337719A>T	gnomAD
GRHL3	Q8TE85	p.Val261Ile	rs145470039	missense variant	-	NC_000001.11:g.24337730G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg264Gln	rs184435420	missense variant	-	NC_000001.11:g.24337740G>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg264Trp	rs151096181	missense variant	-	NC_000001.11:g.24337739C>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr265Ala	rs769211444	missense variant	-	NC_000001.11:g.24337742A>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr265Ser	rs769211444	missense variant	-	NC_000001.11:g.24337742A>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr265Ile	COSM6125502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24337743C>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Ala267Gly	rs34593559	missense variant	-	NC_000001.11:g.24337749C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly268Arg	rs374225670	missense variant	-	NC_000001.11:g.24337751G>C	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly269Asp	rs994387043	missense variant	-	NC_000001.11:g.24337755G>A	TOPMed
GRHL3	Q8TE85	p.Gly269Ser	rs1467098111	missense variant	-	NC_000001.11:g.24337754G>A	TOPMed
GRHL3	Q8TE85	p.Gly271Ala	rs1253708416	missense variant	-	NC_000001.11:g.24337761G>C	TOPMed
GRHL3	Q8TE85	p.Ala273Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24337766G>T	NCI-TCGA
GRHL3	Q8TE85	p.Ser275Pro	rs1025419660	missense variant	-	NC_000001.11:g.24337772T>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.Ser276Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24337776C>A	NCI-TCGA
GRHL3	Q8TE85	p.Lys280Gln	rs1401170359	missense variant	-	NC_000001.11:g.24337787A>C	gnomAD
GRHL3	Q8TE85	p.Ser281Arg	rs761092331	missense variant	-	NC_000001.11:g.24337994T>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser281Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24337992A>C	NCI-TCGA
GRHL3	Q8TE85	p.Val282Met	COSM4030441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24337995G>A	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Val283Met	rs1350012945	missense variant	-	NC_000001.11:g.24337998G>A	gnomAD
GRHL3	Q8TE85	p.Val285Ile	rs1437948974	missense variant	-	NC_000001.11:g.24338004G>A	gnomAD
GRHL3	Q8TE85	p.Asp288His	rs141594535	missense variant	-	NC_000001.11:g.24338013G>C	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asp288Asn	rs141594535	missense variant	-	NC_000001.11:g.24338013G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn289Ser	rs762000715	missense variant	-	NC_000001.11:g.24338017A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Val292Phe	rs1447998434	missense variant	-	NC_000001.11:g.24338025G>T	gnomAD
GRHL3	Q8TE85	p.Val294Ile	rs750665556	missense variant	-	NC_000001.11:g.24338031G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Glu295Lys	rs1257067361	missense variant	-	NC_000001.11:g.24338034G>A	gnomAD
GRHL3	Q8TE85	p.Leu297Val	rs759267741	missense variant	-	NC_000001.11:g.24338040C>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Arg298His	RCV000087751	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24338044G>A	ClinVar
GRHL3	Q8TE85	p.Arg298Cys	rs767218256	missense variant	-	NC_000001.11:g.24338043C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg298His	rs752673677	missense variant	Van der woude syndrome 2 (vws2)	NC_000001.11:g.24338044G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Trp300Ter	rs1553172687	stop gained	-	NC_000001.11:g.24338050G>A	-
GRHL3	Q8TE85	p.Trp300Ter	RCV000548428	nonsense	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24338050G>A	ClinVar
GRHL3	Q8TE85	p.Trp303Ter	rs1457221205	stop gained	-	NC_000001.11:g.24338060G>A	gnomAD
GRHL3	Q8TE85	p.His304Arg	rs753443097	missense variant	-	NC_000001.11:g.24338062A>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg306Leu	rs778662501	missense variant	-	NC_000001.11:g.24338068G>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg306Trp	rs1471680393	missense variant	-	NC_000001.11:g.24338067C>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg306Ter	RCV000240841	frameshift	nonsyndromic cleft palate	NC_000001.11:g.24338067dup	ClinVar
GRHL3	Q8TE85	p.Arg306Gln	rs778662501	missense variant	-	NC_000001.11:g.24338068G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala310Thr	rs745531699	missense variant	-	NC_000001.11:g.24338079G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Lys311Arg	rs1167843366	missense variant	-	NC_000001.11:g.24338083A>G	gnomAD
GRHL3	Q8TE85	p.Gln312Pro	rs780280734	missense variant	-	NC_000001.11:g.24338086A>C	TOPMed
GRHL3	Q8TE85	p.Gln312Arg	rs780280734	missense variant	-	NC_000001.11:g.24338086A>G	TOPMed
GRHL3	Q8TE85	p.Val314Ile	rs1466660767	missense variant	-	NC_000001.11:g.24338091G>A	gnomAD
GRHL3	Q8TE85	p.Ile315Met	rs1333934293	missense variant	-	NC_000001.11:g.24338096T>G	gnomAD
GRHL3	Q8TE85	p.Val317Ala	rs137880318	missense variant	-	NC_000001.11:g.24338101T>C	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val317Met	rs373710872	missense variant	-	NC_000001.11:g.24338100G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala318Gly	rs1334073661	missense variant	-	NC_000001.11:g.24339668C>G	TOPMed
GRHL3	Q8TE85	p.Asp319Glu	rs1220503379	missense variant	-	NC_000001.11:g.24339672C>G	gnomAD
GRHL3	Q8TE85	p.Phe324Ter	RCV000087749	frameshift	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24339685_24339686insGT	ClinVar
GRHL3	Q8TE85	p.Phe324Leu	rs1303183180	missense variant	-	NC_000001.11:g.24339687C>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr326Ala	rs1279145175	missense variant	-	NC_000001.11:g.24339691A>G	gnomAD
GRHL3	Q8TE85	p.Thr326Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24339691A>C	NCI-TCGA
GRHL3	Q8TE85	p.Glu328Lys	rs1316468033	missense variant	-	NC_000001.11:g.24339697G>A	TOPMed
GRHL3	Q8TE85	p.Glu328Asp	COSM4030443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24339699G>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Ile330Val	rs377484322	missense variant	-	NC_000001.11:g.24339703A>G	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu331Gln	COSM4844696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24339706G>C	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Glu332Ala	rs771094081	missense variant	-	NC_000001.11:g.24339710A>C	ExAC,gnomAD
GRHL3	Q8TE85	p.Val333Met	rs1194638940	missense variant	-	NC_000001.11:g.24339712G>A	gnomAD
GRHL3	Q8TE85	p.Leu338Gln	rs774668611	missense variant	-	NC_000001.11:g.24339728T>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser339Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24339731C>T	NCI-TCGA
GRHL3	Q8TE85	p.Val344Leu	rs576515277	missense variant	-	NC_000001.11:g.24339745G>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val344Met	rs576515277	missense variant	-	NC_000001.11:g.24339745G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn345Thr	rs373187060	missense variant	-	NC_000001.11:g.24339749A>C	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn345Ser	rs373187060	missense variant	-	NC_000001.11:g.24339749A>G	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu347Ala	rs1297853043	missense variant	-	NC_000001.11:g.24339755A>C	gnomAD
GRHL3	Q8TE85	p.Ala348Thr	rs1361356122	missense variant	-	NC_000001.11:g.24339757G>A	gnomAD
GRHL3	Q8TE85	p.Ala348Asp	rs761910382	missense variant	-	NC_000001.11:g.24339758C>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Lys349Glu	rs1321596578	missense variant	-	NC_000001.11:g.24339760A>G	gnomAD
GRHL3	Q8TE85	p.Val350Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24342116T>A	NCI-TCGA
GRHL3	Q8TE85	p.Gly353Ser	rs1240818697	missense variant	-	NC_000001.11:g.24342124G>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Val354Ile	rs375437963	missense variant	-	NC_000001.11:g.24342127G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Cys356Ser	rs1372169936	missense variant	-	NC_000001.11:g.24342134G>C	TOPMed
GRHL3	Q8TE85	p.Ser363Leu	COSM1473737	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342155C>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Gln364Lys	rs756497305	missense variant	-	NC_000001.11:g.24342157C>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Gly366Arg	rs1302445685	missense variant	-	NC_000001.11:g.24342163G>C	TOPMed
GRHL3	Q8TE85	p.Asn373Ser	COSM6125500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342185A>G	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Gln375Arg	rs757219903	missense variant	-	NC_000001.11:g.24342191A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Tyr379Cys	rs200690546	missense variant	-	NC_000001.11:g.24342203A>G	gnomAD
GRHL3	Q8TE85	p.Tyr379His	rs1458498226	missense variant	-	NC_000001.11:g.24342202T>C	gnomAD
GRHL3	Q8TE85	p.Asp380Glu	rs1388620854	missense variant	-	NC_000001.11:g.24342207C>A	TOPMed
GRHL3	Q8TE85	p.Cys381Tyr	rs1167128662	missense variant	-	NC_000001.11:g.24342209G>A	gnomAD
GRHL3	Q8TE85	p.Gly382Val	rs1293439865	missense variant	-	NC_000001.11:g.24342212G>T	TOPMed
GRHL3	Q8TE85	p.Leu383Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24342216G>C	NCI-TCGA
GRHL3	Q8TE85	p.Leu383Phe	rs746065831	missense variant	-	NC_000001.11:g.24342216G>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Gly384Ser	rs772473312	missense variant	-	NC_000001.11:g.24342217G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Gly384Asp	rs199589207	missense variant	-	NC_000001.11:g.24342218G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg387Ser	rs147284380	missense variant	-	NC_000001.11:g.24342226C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg387His	rs763012802	missense variant	-	NC_000001.11:g.24342227G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Arg387Cys	rs147284380	missense variant	-	NC_000001.11:g.24342226C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val389Ile	rs147968080	missense variant	-	NC_000001.11:g.24342232G>A	ESP,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val389Leu	rs147968080	missense variant	-	NC_000001.11:g.24342232G>C	ESP,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg391Cys	rs879255245	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24342238C>T	UniProt,dbSNP
GRHL3	Q8TE85	p.Arg391Cys	VAR_072617	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24342238C>T	UniProt
GRHL3	Q8TE85	p.Arg391Cys	rs879255245	missense variant	Van der woude syndrome 2 (vws2)	NC_000001.11:g.24342238C>T	gnomAD
GRHL3	Q8TE85	p.Arg391Cys	RCV000087753	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24342238C>T	ClinVar
GRHL3	Q8TE85	p.Arg391His	rs1315515436	missense variant	-	NC_000001.11:g.24342239G>A	gnomAD
GRHL3	Q8TE85	p.Val393Asp	rs1252371012	missense variant	-	NC_000001.11:g.24342245T>A	gnomAD
GRHL3	Q8TE85	p.Gln395Gly	NCI-TCGA novel	insertion	-	NC_000001.11:g.24342251_24342252insAGG	NCI-TCGA
GRHL3	Q8TE85	p.Ile396Val	rs1481839098	missense variant	-	NC_000001.11:g.24342253A>G	gnomAD
GRHL3	Q8TE85	p.Lys397Arg	rs1192445341	missense variant	-	NC_000001.11:g.24342257A>G	TOPMed
GRHL3	Q8TE85	p.Asp401Tyr	COSM1296121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342268G>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Gly403Glu	COSM3865023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342695G>A	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Arg406Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24342704G>A	NCI-TCGA
GRHL3	Q8TE85	p.Met408Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24342711G>A	NCI-TCGA
GRHL3	Q8TE85	p.Met408Thr	rs1486197604	missense variant	-	NC_000001.11:g.24342710T>C	gnomAD
GRHL3	Q8TE85	p.Arg409Cys	rs770938921	missense variant	-	NC_000001.11:g.24342712C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg409Cys	RCV000590896	missense variant	Van der Woude syndrome (VWS1)	NC_000001.11:g.24342712C>T	ClinVar
GRHL3	Q8TE85	p.Arg409Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24342712C>A	NCI-TCGA
GRHL3	Q8TE85	p.Arg409His	rs1261266801	missense variant	-	NC_000001.11:g.24342713G>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Asp410Gly	rs1004096225	missense variant	-	NC_000001.11:g.24342716A>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Asp410Asn	rs745328429	missense variant	-	NC_000001.11:g.24342715G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu412Lys	rs371427354	missense variant	-	NC_000001.11:g.24342721G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu412Asp	rs777104226	missense variant	-	NC_000001.11:g.24342723G>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Glu412Gln	rs371427354	missense variant	-	NC_000001.11:g.24342721G>C	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg413Trp	rs1314361752	missense variant	-	NC_000001.11:g.24342724C>T	gnomAD
GRHL3	Q8TE85	p.Arg413Gly	rs1314361752	missense variant	-	NC_000001.11:g.24342724C>G	gnomAD
GRHL3	Q8TE85	p.Arg413Leu	rs1342584115	missense variant	-	NC_000001.11:g.24342725G>T	TOPMed
GRHL3	Q8TE85	p.Arg413Gln	COSM281514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342725G>A	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Gln415Arg	rs1264416558	missense variant	-	NC_000001.11:g.24342731A>G	gnomAD
GRHL3	Q8TE85	p.Phe416Leu	rs374698640	missense variant	-	NC_000001.11:g.24342735C>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg417Trp	rs993460632	missense variant	-	NC_000001.11:g.24342736C>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg417Gln	rs367619721	missense variant	-	NC_000001.11:g.24342737G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg418Lys	rs1301165378	missense variant	-	NC_000001.11:g.24342740G>A	gnomAD
GRHL3	Q8TE85	p.Arg418Gly	rs750991067	missense variant	-	NC_000001.11:g.24342739A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Lys419Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24342743A>G	NCI-TCGA
GRHL3	Q8TE85	p.Val420Ile	rs1349102768	missense variant	-	NC_000001.11:g.24342745G>A	gnomAD
GRHL3	Q8TE85	p.Lys421Arg	rs1236903147	missense variant	-	NC_000001.11:g.24342749A>G	gnomAD
GRHL3	Q8TE85	p.Lys421Asn	rs1196977658	missense variant	-	NC_000001.11:g.24342750G>C	gnomAD
GRHL3	Q8TE85	p.Pro423Ser	rs766633283	missense variant	-	NC_000001.11:g.24342754C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro423Ala	rs766633283	missense variant	-	NC_000001.11:g.24342754C>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ser426Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24342764G>T	NCI-TCGA
GRHL3	Q8TE85	p.Asn427Thr	rs1474587948	missense variant	-	NC_000001.11:g.24342767A>C	TOPMed
GRHL3	Q8TE85	p.Gly429Ala	rs964729493	missense variant	-	NC_000001.11:g.24342892G>C	TOPMed
GRHL3	Q8TE85	p.Val430Ile	rs199801227	missense variant	-	NC_000001.11:g.24342894G>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Lys431Glu	rs41268751	missense variant	-	NC_000001.11:g.24342897A>G	TOPMed
GRHL3	Q8TE85	p.Lys431Gln	rs41268751	missense variant	-	NC_000001.11:g.24342897A>C	TOPMed
GRHL3	Q8TE85	p.Gly432Cys	rs149807585	missense variant	-	NC_000001.11:g.24342900G>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly432Asp	rs1281509789	missense variant	-	NC_000001.11:g.24342901G>A	gnomAD
GRHL3	Q8TE85	p.Gly432Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24342900G>C	NCI-TCGA
GRHL3	Q8TE85	p.Leu434Met	rs1377174259	missense variant	-	NC_000001.11:g.24342906C>A	gnomAD
GRHL3	Q8TE85	p.Leu435Val	rs763522239	missense variant	-	NC_000001.11:g.24342909C>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser436Leu	rs771522036	missense variant	-	NC_000001.11:g.24342913C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg439Gly	rs759598170	missense variant	-	NC_000001.11:g.24342921A>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn441Lys	rs1204895238	missense variant	-	NC_000001.11:g.24342929T>G	gnomAD
GRHL3	Q8TE85	p.Glu442Lys	rs374245832	missense variant	-	NC_000001.11:g.24342930G>A	ESP,TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr443Met	rs140365190	missense variant	-	NC_000001.11:g.24342934C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Tyr445His	rs764996839	missense variant	-	NC_000001.11:g.24342939T>C	ExAC,gnomAD
GRHL3	Q8TE85	p.Leu446Phe	COSM3486491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24342942C>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Arg447Leu	rs544083411	missense variant	-	NC_000001.11:g.24342946G>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg447Gln	rs544083411	missense variant	-	NC_000001.11:g.24342946G>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg447Trp	rs138087584	missense variant	-	NC_000001.11:g.24342945C>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro448Ser	rs1396339277	missense variant	-	NC_000001.11:g.24342948C>T	gnomAD
GRHL3	Q8TE85	p.Thr454Ala	rs1331214651	missense variant	-	NC_000001.11:g.24342966A>G	gnomAD
GRHL3	Q8TE85	p.Thr454Met	rs41268753	missense variant	-	NC_000001.11:g.24342967C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr454Met	RCV000533959	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24342967C>T	ClinVar
GRHL3	Q8TE85	p.Pro455Leu	rs267598464	missense variant	-	NC_000001.11:g.24342970C>T	gnomAD
GRHL3	Q8TE85	p.Pro455Ala	rs141193530	missense variant	-	NC_000001.11:g.24342969C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro456His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24342973C>A	NCI-TCGA
GRHL3	Q8TE85	p.Val457Met	rs775989901	missense variant	-	NC_000001.11:g.24342975G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val457Ala	rs1333969565	missense variant	-	NC_000001.11:g.24342976T>C	TOPMed
GRHL3	Q8TE85	p.Pro461Ser	rs771434100	missense variant	-	NC_000001.11:g.24342987C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Asn462Ser	rs143169996	missense variant	-	NC_000001.11:g.24342991A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Val463Met	rs147511442	missense variant	-	NC_000001.11:g.24342993G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.His464Gln	rs1352393187	missense variant	-	NC_000001.11:g.24342998C>A	TOPMed
GRHL3	Q8TE85	p.Ser466Phe	rs1445434324	missense variant	-	NC_000001.11:g.24343003C>T	gnomAD
GRHL3	Q8TE85	p.Ser467Cys	rs1257730338	missense variant	-	NC_000001.11:g.24343005A>T	gnomAD
GRHL3	Q8TE85	p.Arg470Cys	rs1057164040	missense variant	-	NC_000001.11:g.24343014C>T	gnomAD
GRHL3	Q8TE85	p.Arg470His	rs886042936	missense variant	-	NC_000001.11:g.24343015G>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg470His	RCV000284480	missense variant	-	NC_000001.11:g.24343015G>A	ClinVar
GRHL3	Q8TE85	p.Ser471Cys	rs547231326	missense variant	-	NC_000001.11:g.24343018C>G	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly472Val	rs1345902201	missense variant	-	NC_000001.11:g.24343021G>T	TOPMed
GRHL3	Q8TE85	p.Gly473Val	rs980139460	missense variant	-	NC_000001.11:g.24343024G>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly473Ala	rs980139460	missense variant	-	NC_000001.11:g.24343024G>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.Gly473Arg	rs760859984	missense variant	-	NC_000001.11:g.24343023G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Pro476Thr	rs766172979	missense variant	-	NC_000001.11:g.24344903C>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro476Ser	rs766172979	missense variant	-	NC_000001.11:g.24344903C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro476Arg	COSM1320280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24344904C>G	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Ser477Leu	rs114518869	missense variant	-	NC_000001.11:g.24344907C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala478Gly	rs151284236	missense variant	-	NC_000001.11:g.24344910C>G	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala478Thr	rs981103462	missense variant	-	NC_000001.11:g.24344909G>A	TOPMed
GRHL3	Q8TE85	p.Gly479Glu	COSM3865025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24344913G>A	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Pro480His	rs142369311	missense variant	-	NC_000001.11:g.24344916C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro480Thr	rs752690193	missense variant	-	NC_000001.11:g.24344915C>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ser481Arg	rs763761156	missense variant	-	NC_000001.11:g.24344918A>C	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser481Ile	rs753524721	missense variant	-	NC_000001.11:g.24344919G>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Ser483Phe	rs757022889	missense variant	-	NC_000001.11:g.24344925C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn484Lys	rs746182160	missense variant	-	NC_000001.11:g.24344929C>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn484Ser	rs116396279	missense variant	-	NC_000001.11:g.24344928A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn484ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.24344927A>-	NCI-TCGA
GRHL3	Q8TE85	p.Asn484His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24344927A>C	NCI-TCGA
GRHL3	Q8TE85	p.Asn484Ser	RCV000525797	missense variant	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24344928A>G	ClinVar
GRHL3	Q8TE85	p.Arg485Gly	rs780367647	missense variant	-	NC_000001.11:g.24344930A>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro487Ala	rs1380777984	missense variant	-	NC_000001.11:g.24346557C>G	TOPMed
GRHL3	Q8TE85	p.Leu488Arg	rs1233311463	missense variant	-	NC_000001.11:g.24346561T>G	gnomAD
GRHL3	Q8TE85	p.Arg490His	rs138381915	missense variant	-	NC_000001.11:g.24346567G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg490Cys	rs375906769	missense variant	-	NC_000001.11:g.24346566C>T	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr491Ala	rs560956531	missense variant	-	NC_000001.11:g.24346569A>G	1000Genomes,ExAC,gnomAD
GRHL3	Q8TE85	p.Thr491Pro	rs560956531	missense variant	-	NC_000001.11:g.24346569A>C	1000Genomes,ExAC,gnomAD
GRHL3	Q8TE85	p.Ser493Leu	rs752049192	missense variant	-	NC_000001.11:g.24346576C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro494Leu	rs781686245	missense variant	-	NC_000001.11:g.24346579C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Pro494Ser	rs755517732	missense variant	-	NC_000001.11:g.24346578C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr496Ala	rs200274487	missense variant	-	NC_000001.11:g.24346584A>G	1000Genomes,TOPMed,gnomAD
GRHL3	Q8TE85	p.Thr496Pro	rs200274487	missense variant	-	NC_000001.11:g.24346584A>C	1000Genomes,TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu497Asp	rs1419950579	missense variant	-	NC_000001.11:g.24346589G>C	gnomAD
GRHL3	Q8TE85	p.Phe499Leu	rs769929517	missense variant	-	NC_000001.11:g.24346593T>C	ExAC,gnomAD
GRHL3	Q8TE85	p.Glu500Gln	COSM3789761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24346596G>C	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Pro501Leu	rs1241732849	missense variant	-	NC_000001.11:g.24346600C>T	TOPMed
GRHL3	Q8TE85	p.Pro501Ser	rs777787551	missense variant	-	NC_000001.11:g.24346599C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro503Leu	rs1463304936	missense variant	-	NC_000001.11:g.24346606C>T	gnomAD
GRHL3	Q8TE85	p.Ser504Ala	rs749587799	missense variant	-	NC_000001.11:g.24346608T>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Lys505Glu	rs771748107	missense variant	-	NC_000001.11:g.24346611A>G	ExAC,gnomAD
GRHL3	Q8TE85	p.Ala507Gly	rs1314240381	missense variant	-	NC_000001.11:g.24346618C>G	gnomAD
GRHL3	Q8TE85	p.Ala507Thr	rs775471317	missense variant	-	NC_000001.11:g.24346617G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Gly510Asp	rs1359234448	missense variant	-	NC_000001.11:g.24346627G>A	gnomAD
GRHL3	Q8TE85	p.Asp511Asn	rs137964149	missense variant	-	NC_000001.11:g.24346629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Leu512Phe	rs571213405	missense variant	-	NC_000001.11:g.24346632C>T	1000Genomes,ExAC,gnomAD
GRHL3	Q8TE85	p.Gln513Arg	rs764808943	missense variant	-	NC_000001.11:g.24346636A>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg514Thr	rs1238790353	missense variant	-	NC_000001.11:g.24346639G>C	TOPMed
GRHL3	Q8TE85	p.Arg514Ile	COSM1584339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.24346639G>T	NCI-TCGA Cosmic
GRHL3	Q8TE85	p.Leu516Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24347471T>C	NCI-TCGA
GRHL3	Q8TE85	p.Tyr518Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24347477A>C	NCI-TCGA
GRHL3	Q8TE85	p.Val519Met	rs1395729675	missense variant	-	NC_000001.11:g.24347479G>A	gnomAD
GRHL3	Q8TE85	p.Arg520Gln	rs946439477	missense variant	-	NC_000001.11:g.24347483G>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg520Trp	rs753127269	missense variant	-	NC_000001.11:g.24347482C>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Arg521Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.24347486G>T	NCI-TCGA
GRHL3	Q8TE85	p.Glu522Ter	RCV000087750	frameshift	Van der Woude syndrome 2 (VWS2)	NC_000001.11:g.24347483_24347486GGAG[1]	ClinVar
GRHL3	Q8TE85	p.Thr523Ala	rs1045288607	missense variant	-	NC_000001.11:g.24347491A>G	TOPMed
GRHL3	Q8TE85	p.Val526Gly	rs1374340632	missense variant	-	NC_000001.11:g.24347501T>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Val526Met	rs376342726	missense variant	-	NC_000001.11:g.24347500G>A	ESP,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asp528Glu	rs369646688	missense variant	-	NC_000001.11:g.24347508C>G	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala529Thr	rs766083361	missense variant	-	NC_000001.11:g.24347509G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ala529Val	rs753414526	missense variant	-	NC_000001.11:g.24347510C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Met531Lys	rs1472303415	missense variant	-	NC_000001.11:g.24347516T>A	TOPMed
GRHL3	Q8TE85	p.Pro535Ala	rs1182387377	missense variant	-	NC_000001.11:g.24347527C>G	TOPMed
GRHL3	Q8TE85	p.Asp536Asn	rs769729251	missense variant	-	NC_000001.11:g.24347530G>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Lys538Asn	rs773044471	missense variant	-	NC_000001.11:g.24347538G>T	ExAC,gnomAD
GRHL3	Q8TE85	p.Glu546Lys	rs1373800510	missense variant	-	NC_000001.11:g.24350064G>A	gnomAD
GRHL3	Q8TE85	p.Lys547Arg	rs1414254043	missense variant	-	NC_000001.11:g.24350068A>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Phe550Leu	rs777703670	missense variant	-	NC_000001.11:g.24350076T>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.Phe550Ile	rs777703670	missense variant	-	NC_000001.11:g.24350076T>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn554Ile	rs750573203	missense variant	-	NC_000001.11:g.24350089A>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn554Thr	rs750573203	missense variant	-	NC_000001.11:g.24350089A>C	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asn554Ser	rs750573203	missense variant	-	NC_000001.11:g.24350089A>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Lys557Glu	rs954635487	missense variant	-	NC_000001.11:g.24350097A>G	TOPMed
GRHL3	Q8TE85	p.Arg564Ter	rs1390189012	stop gained	-	NC_000001.11:g.24350118C>T	TOPMed
GRHL3	Q8TE85	p.Arg564Gln	rs766563561	missense variant	-	NC_000001.11:g.24350119G>A	ExAC,gnomAD
GRHL3	Q8TE85	p.Gly565Arg	rs1276355647	missense variant	-	NC_000001.11:g.24350121G>A	gnomAD
GRHL3	Q8TE85	p.Glu566Lys	rs6694170	missense variant	-	NC_000001.11:g.24364186G>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu566Ter	rs6694170	stop gained	-	NC_000001.11:g.24364186G>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu566Asp	rs1040447178	missense variant	-	NC_000001.11:g.24364188A>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu566Gly	rs1434750524	missense variant	-	NC_000001.11:g.24364187A>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Glu566Lys	RCV000202651	missense variant	-	NC_000001.11:g.24364186G>A	ClinVar
GRHL3	Q8TE85	p.His571Leu	rs1050497646	missense variant	-	NC_000001.11:g.24364202A>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.His571Tyr	rs994944673	missense variant	-	NC_000001.11:g.24364201C>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg573Leu	rs151326764	missense variant	-	NC_000001.11:g.24364208G>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg573Cys	rs763952499	missense variant	-	NC_000001.11:g.24364207C>T	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg573His	rs151326764	missense variant	-	NC_000001.11:g.24364208G>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg573Ser	rs763952499	missense variant	-	NC_000001.11:g.24364207C>A	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Leu574Met	rs1233923407	missense variant	-	NC_000001.11:g.24364210C>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg576His	rs773073578	missense variant	-	NC_000001.11:g.24364217G>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Arg576Cys	rs893330497	missense variant	-	NC_000001.11:g.24364216C>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.His577Gln	rs1248390232	missense variant	-	NC_000001.11:g.24364221C>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro578Ser	rs1023025621	missense variant	-	NC_000001.11:g.24364222C>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro578Leu	rs998813039	missense variant	-	NC_000001.11:g.24364223C>T	TOPMed
GRHL3	Q8TE85	p.Pro579Ser	rs535901162	missense variant	-	NC_000001.11:g.24364225C>T	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro579Thr	rs535901162	missense variant	-	NC_000001.11:g.24364225C>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro579Leu	rs1016021379	missense variant	-	NC_000001.11:g.24364226C>T	gnomAD
GRHL3	Q8TE85	p.Pro579Arg	rs1016021379	missense variant	-	NC_000001.11:g.24364226C>G	gnomAD
GRHL3	Q8TE85	p.Pro579Gln	rs1016021379	missense variant	-	NC_000001.11:g.24364226C>A	gnomAD
GRHL3	Q8TE85	p.Glu584Gly	rs1178878021	missense variant	-	NC_000001.11:g.24364241A>G	gnomAD
GRHL3	Q8TE85	p.Cys585Ser	rs1410325513	missense variant	-	NC_000001.11:g.24364243T>A	gnomAD
GRHL3	Q8TE85	p.Ser586Phe	rs1158230326	missense variant	-	NC_000001.11:g.24364247C>T	TOPMed
GRHL3	Q8TE85	p.Ser586Pro	rs1437522091	missense variant	-	NC_000001.11:g.24364246T>C	gnomAD
GRHL3	Q8TE85	p.His587Tyr	rs1160458447	missense variant	-	NC_000001.11:g.24364249C>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro588Ser	rs1391250087	missense variant	-	NC_000001.11:g.24364252C>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Pro588Ala	rs1391250087	missense variant	-	NC_000001.11:g.24364252C>G	TOPMed,gnomAD
GRHL3	Q8TE85	p.Val592Met	rs1359092192	missense variant	-	NC_000001.11:g.24364264G>A	TOPMed
GRHL3	Q8TE85	p.Met595Ile	rs112469942	missense variant	-	NC_000001.11:g.24364275G>T	TOPMed,gnomAD
GRHL3	Q8TE85	p.Met595Lys	rs545809	missense variant	-	NC_000001.11:g.24364274T>A	1000Genomes,ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Met595Val	rs1320975372	missense variant	-	NC_000001.11:g.24364273A>G	gnomAD
GRHL3	Q8TE85	p.Gly598Val	rs1444169871	missense variant	-	NC_000001.11:g.24364283G>T	TOPMed
GRHL3	Q8TE85	p.Asp599Gly	rs1285127281	missense variant	-	NC_000001.11:g.24364286A>G	gnomAD
GRHL3	Q8TE85	p.Gln604Lys	rs951911760	missense variant	-	NC_000001.11:g.24364300C>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Asp606Ala	rs1348616682	missense variant	-	NC_000001.11:g.24364307A>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.Leu607Val	rs747321006	missense variant	-	NC_000001.11:g.24364309C>G	ExAC,TOPMed,gnomAD
GRHL3	Q8TE85	p.Asp608Ala	rs775916587	missense variant	-	NC_000001.11:g.24364313A>C	TOPMed,gnomAD
GRHL3	Q8TE85	p.Ser612Arg	rs1218971934	missense variant	-	NC_000001.11:g.24364326C>A	gnomAD
GRHL3	Q8TE85	p.Pro613Ser	rs1204166581	missense variant	-	NC_000001.11:g.24364327C>T	TOPMed
GRHL3	Q8TE85	p.Thr615Asn	rs1264431029	missense variant	-	NC_000001.11:g.24364334C>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.Val616Ile	rs1201031946	missense variant	-	NC_000001.11:g.24364336G>A	TOPMed,gnomAD
GRHL3	Q8TE85	p.His620Gln	rs1189846276	missense variant	-	NC_000001.11:g.24364350C>A	TOPMed
GRHL3	Q8TE85	p.Phe621Leu	rs920830003	missense variant	-	NC_000001.11:g.24364351T>C	TOPMed
GRHL3	Q8TE85	p.Asn624Asp	rs1403913099	missense variant	-	NC_000001.11:g.24364360A>G	gnomAD
GRHL3	Q8TE85	p.Ser625Ter	rs539431346	stop gained	-	NC_000001.11:g.24364364C>A	1000Genomes,TOPMed,gnomAD
GRHL3	Q8TE85	p.Ser625Leu	rs539431346	missense variant	-	NC_000001.11:g.24364364C>T	1000Genomes,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala3Asp	rs781246142	missense variant	-	NC_000017.11:g.50835945C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala3Val	rs781246142	missense variant	-	NC_000017.11:g.50835945C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala3Ser	rs1338642849	missense variant	-	NC_000017.11:g.50835944G>T	gnomAD
WFIKKN2	Q8TEU8	p.Arg5Lys	rs1451697165	missense variant	-	NC_000017.11:g.50835951G>A	gnomAD
WFIKKN2	Q8TEU8	p.Arg5Ser	rs769984960	missense variant	-	NC_000017.11:g.50835952G>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg7Cys	rs773492695	missense variant	-	NC_000017.11:g.50835956C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg7His	rs201714204	missense variant	-	NC_000017.11:g.50835957G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg8Trp	rs771138910	missense variant	-	NC_000017.11:g.50835959C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg8Pro	rs140211672	missense variant	-	NC_000017.11:g.50835960G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg8Gly	rs771138910	missense variant	-	NC_000017.11:g.50835959C>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg8Gln	rs140211672	missense variant	-	NC_000017.11:g.50835960G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Phe9Cys	rs1205598803	missense variant	-	NC_000017.11:g.50835963T>G	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Trp10Cys	rs1461246549	missense variant	-	NC_000017.11:g.50835967G>T	gnomAD
WFIKKN2	Q8TEU8	p.Trp10Leu	rs141104835	missense variant	-	NC_000017.11:g.50835966G>T	ESP,ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg12Cys	rs776256643	missense variant	-	NC_000017.11:g.50835971C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg12His	rs761597315	missense variant	-	NC_000017.11:g.50835972G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Glu14Gln	rs765012486	missense variant	-	NC_000017.11:g.50835977G>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Gln15His	rs1422403121	missense variant	-	NC_000017.11:g.50835982G>C	gnomAD
WFIKKN2	Q8TEU8	p.Gln15His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50835982G>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Val16Met	rs1205522753	missense variant	-	NC_000017.11:g.50835983G>A	TOPMed
WFIKKN2	Q8TEU8	p.Ala17Gly	rs1469893972	missense variant	-	NC_000017.11:g.50835987C>G	gnomAD
WFIKKN2	Q8TEU8	p.Ala18Val	rs149885164	missense variant	-	NC_000017.11:g.50835990C>T	ESP,TOPMed
WFIKKN2	Q8TEU8	p.Leu22Arg	rs758227263	missense variant	-	NC_000017.11:g.50836002T>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Leu26Phe	rs1030847243	missense variant	-	NC_000017.11:g.50836013C>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly27Arg	rs754897993	missense variant	-	NC_000017.11:g.50836016G>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Gly27Arg	rs754897993	missense variant	-	NC_000017.11:g.50836016G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Gly27Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50836016G>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Val28Ala	rs1262958488	missense variant	-	NC_000017.11:g.50836020T>C	gnomAD
WFIKKN2	Q8TEU8	p.Val28Leu	rs781300288	missense variant	-	NC_000017.11:g.50836019G>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro29Ser	rs748198972	missense variant	-	NC_000017.11:g.50836022C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro29His	rs972473420	missense variant	-	NC_000017.11:g.50836023C>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro29Thr	rs748198972	missense variant	-	NC_000017.11:g.50836022C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro30Leu	rs1480545094	missense variant	-	NC_000017.11:g.50836026C>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg31Gln	rs55700534	missense variant	-	NC_000017.11:g.50836029G>A	UniProt,dbSNP
WFIKKN2	Q8TEU8	p.Arg31Gln	VAR_061984	missense variant	-	NC_000017.11:g.50836029G>A	UniProt
WFIKKN2	Q8TEU8	p.Arg31Gln	rs55700534	missense variant	-	NC_000017.11:g.50836029G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg31Ter	rs1426584085	stop gained	-	NC_000017.11:g.50836028C>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu33Met	rs1159760916	missense variant	-	NC_000017.11:g.50836034C>A	gnomAD
WFIKKN2	Q8TEU8	p.Ala34Val	rs774562711	missense variant	-	NC_000017.11:g.50836038C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Leu35Gln	rs1366494603	missense variant	-	NC_000017.11:g.50836041T>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu35Met	rs772673628	missense variant	-	NC_000017.11:g.50836040C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro36Thr	rs776098786	missense variant	-	NC_000017.11:g.50836043C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro36Leu	rs201015217	missense variant	-	NC_000017.11:g.50836044C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro36Ser	rs776098786	missense variant	-	NC_000017.11:g.50836043C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro37Ser	rs982742984	missense variant	-	NC_000017.11:g.50836046C>T	gnomAD
WFIKKN2	Q8TEU8	p.Pro37Leu	rs1309830357	missense variant	-	NC_000017.11:g.50836047C>T	gnomAD
WFIKKN2	Q8TEU8	p.Ile38Val	rs140367331	missense variant	-	NC_000017.11:g.50836049A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg39Cys	rs762508871	missense variant	-	NC_000017.11:g.50836052C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg39His	rs145551843	missense variant	-	NC_000017.11:g.50836053G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg39Leu	rs145551843	missense variant	-	NC_000017.11:g.50836053G>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg39Gly	rs762508871	missense variant	-	NC_000017.11:g.50836052C>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.His42Arg	rs1266255923	missense variant	-	NC_000017.11:g.50836062A>G	gnomAD
WFIKKN2	Q8TEU8	p.Ala43Thr	rs530215778	missense variant	-	NC_000017.11:g.50836064G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly44Ser	rs141933993	missense variant	-	NC_000017.11:g.50836067G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ile45Phe	rs1157894448	missense variant	-	NC_000017.11:g.50836070A>T	gnomAD
WFIKKN2	Q8TEU8	p.Pro47Ser	rs1301544625	missense variant	-	NC_000017.11:g.50836076C>T	gnomAD
WFIKKN2	Q8TEU8	p.Asn48Lys	rs779386286	missense variant	-	NC_000017.11:g.50836081C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asn48Ser	rs757392566	missense variant	-	NC_000017.11:g.50836080A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asp49His	rs150395238	missense variant	-	NC_000017.11:g.50836082G>C	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asp49Asn	rs150395238	missense variant	-	NC_000017.11:g.50836082G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Met50Val	rs780710697	missense variant	-	NC_000017.11:g.50836085A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Met50Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50836086T>C	NCI-TCGA
WFIKKN2	Q8TEU8	p.Pro52Thr	rs747460352	missense variant	-	NC_000017.11:g.50836091C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro52Leu	rs1316267414	missense variant	-	NC_000017.11:g.50836092C>T	gnomAD
WFIKKN2	Q8TEU8	p.Trp55Ter	rs1362060510	stop gained	-	NC_000017.11:g.50836101G>A	gnomAD
WFIKKN2	Q8TEU8	p.Val56Met	rs1244179136	missense variant	-	NC_000017.11:g.50836103G>A	gnomAD
WFIKKN2	Q8TEU8	p.Val56Ala	rs769403148	missense variant	-	NC_000017.11:g.50836104T>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Asp57His	rs1401039087	missense variant	-	NC_000017.11:g.50836106G>C	TOPMed
WFIKKN2	Q8TEU8	p.Asp57Glu	rs138152713	missense variant	-	NC_000017.11:g.50836108C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala58Glu	COSM5149470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50836110C>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Ala58Ser	COSM6147264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50836109G>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Ala58Thr	rs762705683	missense variant	-	NC_000017.11:g.50836109G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser60Gly	rs773941179	missense variant	-	NC_000017.11:g.50836115A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser60Asn	rs1445106576	missense variant	-	NC_000017.11:g.50836116G>A	TOPMed
WFIKKN2	Q8TEU8	p.Thr61Asn	rs767228750	missense variant	-	NC_000017.11:g.50836119C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Thr61Pro	rs1003648874	missense variant	-	NC_000017.11:g.50836118A>C	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg64Gln	rs1352844469	missense variant	-	NC_000017.11:g.50836128G>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg64Trp	rs764277294	missense variant	-	NC_000017.11:g.50836127C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Glu65Gln	rs753842494	missense variant	-	NC_000017.11:g.50836130G>C	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Glu65Asp	rs757313230	missense variant	-	NC_000017.11:g.50836132G>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr68Arg	rs558234463	missense variant	-	NC_000017.11:g.50836140C>G	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr68Lys	rs558234463	missense variant	-	NC_000017.11:g.50836140C>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr68Met	rs558234463	missense variant	-	NC_000017.11:g.50836140C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asp69Asn	rs758847315	missense variant	-	NC_000017.11:g.50836142G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Asp69Gly	rs780552882	missense variant	-	NC_000017.11:g.50836143A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gln70Arg	rs1214799785	missense variant	-	NC_000017.11:g.50836146A>G	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gln70Ter	rs747584943	stop gained	-	NC_000017.11:g.50836145C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Cys72Arg	rs1402844485	missense variant	-	NC_000017.11:g.50839502T>C	gnomAD
WFIKKN2	Q8TEU8	p.Glu73Lys	rs1307769427	missense variant	-	NC_000017.11:g.50839505G>A	TOPMed
WFIKKN2	Q8TEU8	p.Thr74Ile	rs1240104569	missense variant	-	NC_000017.11:g.50839509C>T	TOPMed
WFIKKN2	Q8TEU8	p.Tyr75Phe	rs1358302035	missense variant	-	NC_000017.11:g.50839512A>T	gnomAD
WFIKKN2	Q8TEU8	p.Glu76Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839515A>G	NCI-TCGA
WFIKKN2	Q8TEU8	p.Cys79Tyr	rs1303314225	missense variant	-	NC_000017.11:g.50839524G>A	gnomAD
WFIKKN2	Q8TEU8	p.Cys79Ter	rs144310014	stop gained	-	NC_000017.11:g.50839525C>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asn81Lys	rs542531885	missense variant	-	NC_000017.11:g.50839531C>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val82Ile	rs562819910	missense variant	-	NC_000017.11:g.50839532G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Cys83Tyr	rs1351273059	missense variant	-	NC_000017.11:g.50839536G>A	gnomAD
WFIKKN2	Q8TEU8	p.Gly84Glu	COSM3519446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839539G>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Gly84Val	rs1225302970	missense variant	-	NC_000017.11:g.50839539G>T	gnomAD
WFIKKN2	Q8TEU8	p.Ser87Asn	rs1439915086	missense variant	-	NC_000017.11:g.50839548G>A	gnomAD
WFIKKN2	Q8TEU8	p.Val89Met	rs796276301	missense variant	-	NC_000017.11:g.50839553G>A	-
WFIKKN2	Q8TEU8	p.Ala90Val	rs768432266	missense variant	-	NC_000017.11:g.50839557C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala91Ser	COSM706875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839559G>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Ala91Val	rs761796909	missense variant	-	NC_000017.11:g.50839560C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala91Thr	rs1198209575	missense variant	-	NC_000017.11:g.50839559G>A	gnomAD
WFIKKN2	Q8TEU8	p.Arg92Cys	rs1156711172	missense variant	-	NC_000017.11:g.50839562C>T	TOPMed
WFIKKN2	Q8TEU8	p.Arg92Leu	rs375564913	missense variant	-	NC_000017.11:g.50839563G>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg92His	rs375564913	missense variant	-	NC_000017.11:g.50839563G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Tyr93Asn	COSM473032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839565T>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Met94Val	rs773394027	missense variant	-	NC_000017.11:g.50839568A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val96Leu	rs35300894	missense variant	-	NC_000017.11:g.50839574G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val96Met	rs35300894	missense variant	-	NC_000017.11:g.50839574G>A	UniProt,dbSNP
WFIKKN2	Q8TEU8	p.Val96Met	VAR_036692	missense variant	-	NC_000017.11:g.50839574G>A	UniProt
WFIKKN2	Q8TEU8	p.Val96Met	rs35300894	missense variant	-	NC_000017.11:g.50839574G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Lys100Arg	rs766729278	missense variant	-	NC_000017.11:g.50839587A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Lys100ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.50839586A>-	NCI-TCGA
WFIKKN2	Q8TEU8	p.Val103Ala	rs1384612482	missense variant	-	NC_000017.11:g.50839596T>C	gnomAD
WFIKKN2	Q8TEU8	p.Met105Ile	rs1336346700	missense variant	-	NC_000017.11:g.50839603G>A	gnomAD
WFIKKN2	Q8TEU8	p.Lys107Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839609G>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Glu108Asp	rs767861615	missense variant	-	NC_000017.11:g.50839612G>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Glu108Ter	rs755298115	stop gained	-	NC_000017.11:g.50839610G>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala109Val	rs753215184	missense variant	-	NC_000017.11:g.50839614C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Cys111Arg	rs1489452695	missense variant	-	NC_000017.11:g.50839619T>C	TOPMed
WFIKKN2	Q8TEU8	p.Cys111Tyr	rs756585346	missense variant	-	NC_000017.11:g.50839620G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Asp112Glu	rs1284356620	missense variant	-	NC_000017.11:g.50839624C>A	TOPMed
WFIKKN2	Q8TEU8	p.Met115Ile	rs1354476166	missense variant	-	NC_000017.11:g.50839633G>A	gnomAD
WFIKKN2	Q8TEU8	p.Met115Val	rs1216453578	missense variant	-	NC_000017.11:g.50839631A>G	TOPMed
WFIKKN2	Q8TEU8	p.Cys116Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839634T>C	NCI-TCGA
WFIKKN2	Q8TEU8	p.Ser121Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839650C>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Cys123Tyr	rs779578269	missense variant	-	NC_000017.11:g.50839656G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Asp124Ala	rs1037925951	missense variant	-	NC_000017.11:g.50839659A>C	gnomAD
WFIKKN2	Q8TEU8	p.Asp124Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839658G>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Ile125Ser	rs746616318	missense variant	-	NC_000017.11:g.50839662T>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ile125Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839661A>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Asp127Gly	rs768393898	missense variant	-	NC_000017.11:g.50839668A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Asp127Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839667G>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Val131Met	rs546698855	missense variant	-	NC_000017.11:g.50839679G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Cys132Tyr	rs773233764	missense variant	-	NC_000017.11:g.50839683G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Cys134Trp	rs771064379	missense variant	-	NC_000017.11:g.50839690C>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Cys134Tyr	rs1342078394	missense variant	-	NC_000017.11:g.50839689G>A	TOPMed
WFIKKN2	Q8TEU8	p.Asp136Ala	rs774446941	missense variant	-	NC_000017.11:g.50839695A>C	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg137Cys	rs759787370	missense variant	-	NC_000017.11:g.50839697C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg137His	rs767816747	missense variant	-	NC_000017.11:g.50839698G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Cys138Arg	rs1316870551	missense variant	-	NC_000017.11:g.50839700T>C	gnomAD
WFIKKN2	Q8TEU8	p.Lys140Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839708G>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Glu141Asp	rs1252053423	missense variant	-	NC_000017.11:g.50839711G>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Glu141Asp	rs1252053423	missense variant	-	NC_000017.11:g.50839711G>C	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Glu141Lys	rs1244344687	missense variant	-	NC_000017.11:g.50839709G>A	gnomAD
WFIKKN2	Q8TEU8	p.Pro142Leu	rs1255236838	missense variant	-	NC_000017.11:g.50839713C>T	gnomAD
WFIKKN2	Q8TEU8	p.Ser143ProPheSerTerUnkUnk	COSM1384373	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.50839711_50839712insCC	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Ser143Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839715A>G	NCI-TCGA
WFIKKN2	Q8TEU8	p.Thr145Ile	rs753086954	missense variant	-	NC_000017.11:g.50839722C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Thr145Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839721A>C	NCI-TCGA
WFIKKN2	Q8TEU8	p.Cys146Tyr	rs764619543	missense variant	-	NC_000017.11:g.50839725G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala147Thr	rs991730280	missense variant	-	NC_000017.11:g.50839727G>A	TOPMed
WFIKKN2	Q8TEU8	p.Ser148Ter	rs368900996	stop gained	-	NC_000017.11:g.50839731C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser148Leu	rs368900996	missense variant	-	NC_000017.11:g.50839731C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly150Ser	rs754627583	missense variant	-	NC_000017.11:g.50839736G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr152Ser	rs780897175	missense variant	-	NC_000017.11:g.50839743C>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Tyr153Cys	rs535856714	missense variant	-	NC_000017.11:g.50839746A>G	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Tyr154His	rs769670406	missense variant	-	NC_000017.11:g.50839748T>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg156Cys	rs372428466	missense variant	-	NC_000017.11:g.50839754C>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg156Ser	rs372428466	missense variant	-	NC_000017.11:g.50839754C>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg156His	rs777854021	missense variant	-	NC_000017.11:g.50839755G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Met159Val	rs1395192155	missense variant	-	NC_000017.11:g.50839763A>G	gnomAD
WFIKKN2	Q8TEU8	p.Met159Thr	rs1296605880	missense variant	-	NC_000017.11:g.50839764T>C	gnomAD
WFIKKN2	Q8TEU8	p.Glu162Asp	COSM77017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839774G>C	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Glu162Lys	rs774462465	missense variant	-	NC_000017.11:g.50839772G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala163Thr	rs772363912	missense variant	-	NC_000017.11:g.50839775G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala163Val	rs775538154	missense variant	-	NC_000017.11:g.50839776C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Lys166Thr	rs761033915	missense variant	-	NC_000017.11:g.50839785A>C	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly167Asp	rs1483145076	missense variant	-	NC_000017.11:g.50839788G>A	gnomAD
WFIKKN2	Q8TEU8	p.Ile168Leu	rs201503900	missense variant	-	NC_000017.11:g.50839790A>C	1000Genomes,ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Thr169Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839794C>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Leu170Val	rs1478589376	missense variant	-	NC_000017.11:g.50839796C>G	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val172Ile	rs574423328	missense variant	-	NC_000017.11:g.50839802G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr174Asn	rs753389911	missense variant	-	NC_000017.11:g.50839809C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr174Ile	rs753389911	missense variant	-	NC_000017.11:g.50839809C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr174Ala	rs751057329	missense variant	-	NC_000017.11:g.50839808A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Thr174Pro	rs751057329	missense variant	-	NC_000017.11:g.50839808A>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Cys175Arg	rs745565549	missense variant	-	NC_000017.11:g.50839811T>C	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Cys175Trp	rs752327614	missense variant	-	NC_000017.11:g.50839813C>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg176His	rs777694304	missense variant	-	NC_000017.11:g.50839815G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg176Cys	rs755983785	missense variant	-	NC_000017.11:g.50839814C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Tyr177Cys	rs1239599388	missense variant	-	NC_000017.11:g.50839818A>G	TOPMed
WFIKKN2	Q8TEU8	p.His178Gln	rs1346254639	missense variant	-	NC_000017.11:g.50839822C>A	gnomAD
WFIKKN2	Q8TEU8	p.Thr180Ile	rs1299867676	missense variant	-	NC_000017.11:g.50839827C>T	gnomAD
WFIKKN2	Q8TEU8	p.Trp181Arg	rs745992830	missense variant	-	NC_000017.11:g.50839829T>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Trp181Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839831G>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Pro182Thr	COSM706874	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839832C>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Asn183Asp	rs1240279183	missense variant	-	NC_000017.11:g.50839835A>G	gnomAD
WFIKKN2	Q8TEU8	p.Asn183Ser	rs374420185	missense variant	-	NC_000017.11:g.50839836A>G	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asn183His	rs1240279183	missense variant	-	NC_000017.11:g.50839835A>C	gnomAD
WFIKKN2	Q8TEU8	p.Thr184Ser	rs769075599	missense variant	-	NC_000017.11:g.50839839C>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Thr184Ala	rs747221325	missense variant	-	NC_000017.11:g.50839838A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Thr184Ile	rs769075599	missense variant	-	NC_000017.11:g.50839839C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro186Ser	rs762355067	missense variant	-	NC_000017.11:g.50839844C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro186Leu	rs765795460	missense variant	-	NC_000017.11:g.50839845C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro186His	rs765795460	missense variant	-	NC_000017.11:g.50839845C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro187HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.50839843C>-	NCI-TCGA
WFIKKN2	Q8TEU8	p.Pro188Leu	rs773549922	missense variant	-	NC_000017.11:g.50839851C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro189Ser	rs759088693	missense variant	-	NC_000017.11:g.50839853C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Glu190Asp	rs766876756	missense variant	-	NC_000017.11:g.50839858G>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Thr191Ser	rs1278199424	missense variant	-	NC_000017.11:g.50839859A>T	gnomAD
WFIKKN2	Q8TEU8	p.Met193Val	rs752452393	missense variant	-	NC_000017.11:g.50839865A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.His194Gln	rs755819712	missense variant	-	NC_000017.11:g.50839870C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.His194Tyr	rs1458802295	missense variant	-	NC_000017.11:g.50839868C>T	TOPMed
WFIKKN2	Q8TEU8	p.Ser199Phe	rs142981915	missense variant	-	NC_000017.11:g.50839884C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro200Leu	rs1285747910	missense variant	-	NC_000017.11:g.50839887C>T	TOPMed
WFIKKN2	Q8TEU8	p.Glu201Asp	COSM981322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839891G>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Glu201Gly	rs778917382	missense variant	-	NC_000017.11:g.50839890A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro203LeuPheSerTerUnkUnk	COSM5992023	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.50839893C>-	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Pro203Arg	rs745736910	missense variant	-	NC_000017.11:g.50839896C>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro203Ala	rs1339861171	missense variant	-	NC_000017.11:g.50839895C>G	TOPMed
WFIKKN2	Q8TEU8	p.Glu204Lys	rs758565263	missense variant	-	NC_000017.11:g.50839898G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Met207Val	rs1359682137	missense variant	-	NC_000017.11:g.50839907A>G	gnomAD
WFIKKN2	Q8TEU8	p.Met207Ile	rs780103869	missense variant	-	NC_000017.11:g.50839909G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala208Ser	COSM981323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839910G>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Ala208Gly	rs201815741	missense variant	-	NC_000017.11:g.50839911C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala208Val	rs201815741	missense variant	-	NC_000017.11:g.50839911C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala209Thr	rs1239887671	missense variant	-	NC_000017.11:g.50839913G>A	gnomAD
WFIKKN2	Q8TEU8	p.Pro210Thr	rs748574704	missense variant	-	NC_000017.11:g.50839916C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro210Ala	rs748574704	missense variant	-	NC_000017.11:g.50839916C>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala211Val	rs773779313	missense variant	-	NC_000017.11:g.50839920C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala211Glu	rs773779313	missense variant	-	NC_000017.11:g.50839920C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu212Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839922C>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Asn215His	rs760217472	missense variant	-	NC_000017.11:g.50839931A>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro216Ser	rs763874251	missense variant	-	NC_000017.11:g.50839934C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro216His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50839935C>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Val217Gly	rs1015172818	missense variant	-	NC_000017.11:g.50839938T>G	TOPMed
WFIKKN2	Q8TEU8	p.Val217Met	rs1472751047	missense variant	-	NC_000017.11:g.50839937G>A	TOPMed
WFIKKN2	Q8TEU8	p.His218Arg	rs754553708	missense variant	-	NC_000017.11:g.50839941A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gln219His	COSM6147261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50839945G>C	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Gln219Ter	rs1375294498	stop gained	-	NC_000017.11:g.50839943C>T	gnomAD
WFIKKN2	Q8TEU8	p.Gln219Lys	rs1375294498	missense variant	-	NC_000017.11:g.50839943C>A	gnomAD
WFIKKN2	Q8TEU8	p.Gln219His	rs1041760944	missense variant	-	NC_000017.11:g.50839945G>T	gnomAD
WFIKKN2	Q8TEU8	p.Ser220Leu	rs573525340	missense variant	-	NC_000017.11:g.50839947C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Met223Ile	rs902818282	missense variant	-	NC_000017.11:g.50839957G>C	gnomAD
WFIKKN2	Q8TEU8	p.Met223Ile	rs902818282	missense variant	-	NC_000017.11:g.50839957G>A	gnomAD
WFIKKN2	Q8TEU8	p.Met223Thr	rs750443141	missense variant	-	NC_000017.11:g.50839956T>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Glu225Gln	rs758237401	missense variant	-	NC_000017.11:g.50839961G>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ser228Arg	rs9675120	missense variant	-	NC_000017.11:g.50839972C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser228Asn	rs780157281	missense variant	-	NC_000017.11:g.50839971G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Leu230Phe	rs562619882	missense variant	-	NC_000017.11:g.50839976C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu230Val	rs562619882	missense variant	-	NC_000017.11:g.50839976C>G	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asp232Asn	rs770248381	missense variant	-	NC_000017.11:g.50839982G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val233Met	rs139465890	missense variant	-	NC_000017.11:g.50839985G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val234Leu	rs1172887512	missense variant	-	NC_000017.11:g.50839988G>T	gnomAD
WFIKKN2	Q8TEU8	p.Gly235Ala	rs1398813982	missense variant	-	NC_000017.11:g.50839992G>C	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly235Asp	rs1398813982	missense variant	-	NC_000017.11:g.50839992G>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg236Gly	rs191998613	missense variant	-	NC_000017.11:g.50839994C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg236Trp	rs191998613	missense variant	-	NC_000017.11:g.50839994C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg236Gln	rs564698752	missense variant	-	NC_000017.11:g.50839995G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg238Gln	rs370465261	missense variant	-	NC_000017.11:g.50840001G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg238Trp	rs760268496	missense variant	-	NC_000017.11:g.50840000C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg238Leu	rs370465261	missense variant	-	NC_000017.11:g.50840001G>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro239Ala	rs776403480	missense variant	-	NC_000017.11:g.50840003C>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Glu240Lys	rs1218772738	missense variant	-	NC_000017.11:g.50840006G>A	gnomAD
WFIKKN2	Q8TEU8	p.Ile241Val	rs761369901	missense variant	-	NC_000017.11:g.50840009A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ile241Thr	rs765120415	missense variant	-	NC_000017.11:g.50840010T>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Leu247Val	rs374081258	missense variant	-	NC_000017.11:g.50840027T>G	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu247Trp	rs1263625500	missense variant	-	NC_000017.11:g.50840028T>G	gnomAD
WFIKKN2	Q8TEU8	p.Asp249Val	rs1443962124	missense variant	-	NC_000017.11:g.50840034A>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg250Gln	rs1237172578	missense variant	-	NC_000017.11:g.50840037G>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg250Gly	rs1207723247	missense variant	-	NC_000017.11:g.50840036C>G	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg250Trp	rs1207723247	missense variant	-	NC_000017.11:g.50840036C>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Glu251Asp	rs1196021905	missense variant	-	NC_000017.11:g.50840041G>T	gnomAD
WFIKKN2	Q8TEU8	p.Asn252Ser	rs766334925	missense variant	-	NC_000017.11:g.50840043A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Val253Met	rs1477504958	missense variant	-	NC_000017.11:g.50840045G>A	gnomAD
WFIKKN2	Q8TEU8	p.Val254Ile	rs751430437	missense variant	-	NC_000017.11:g.50840048G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Met255Leu	rs527486493	missense variant	-	NC_000017.11:g.50840051A>T	1000Genomes,ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg256Gln	rs149692450	missense variant	-	NC_000017.11:g.50840055G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg256Trp	rs200820844	missense variant	-	NC_000017.11:g.50840054C>T	ESP,ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro257Thr	rs778245094	missense variant	-	NC_000017.11:g.50840057C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Asn258Lys	rs779579115	missense variant	-	NC_000017.11:g.50840062C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Asn258Ser	rs771358823	missense variant	-	NC_000017.11:g.50840061A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.His259Tyr	COSM3519450	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840063C>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.His259Arg	rs746366831	missense variant	-	NC_000017.11:g.50840064A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val260Met	rs1219940325	missense variant	-	NC_000017.11:g.50840066G>A	TOPMed
WFIKKN2	Q8TEU8	p.Arg261His	rs146708003	missense variant	-	NC_000017.11:g.50840070G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg261Cys	rs775975463	missense variant	-	NC_000017.11:g.50840069C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly262Cys	COSM1384379	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840072G>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Val264Met	rs756317416	missense variant	-	NC_000017.11:g.50840078G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val266Phe	rs1488026228	missense variant	-	NC_000017.11:g.50840084G>T	gnomAD
WFIKKN2	Q8TEU8	p.Ile269Thr	rs1249026446	missense variant	-	NC_000017.11:g.50840094T>C	gnomAD
WFIKKN2	Q8TEU8	p.Ala270Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840097C>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Val273Ile	COSM3519451	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840105G>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Val273Phe	rs774329151	missense variant	-	NC_000017.11:g.50840105G>T	ExAC
WFIKKN2	Q8TEU8	p.Tyr275Phe	rs1409186803	missense variant	-	NC_000017.11:g.50840112A>T	gnomAD
WFIKKN2	Q8TEU8	p.Asn276Ser	rs1206217373	missense variant	-	NC_000017.11:g.50840115A>G	gnomAD
WFIKKN2	Q8TEU8	p.Ala277Thr	rs767671298	missense variant	-	NC_000017.11:g.50840117G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala277Asp	rs1484728969	missense variant	-	NC_000017.11:g.50840118C>A	gnomAD
WFIKKN2	Q8TEU8	p.Gln278His	rs1418862095	missense variant	-	NC_000017.11:g.50840122G>C	gnomAD
WFIKKN2	Q8TEU8	p.Gln278Ter	rs1190404134	stop gained	-	NC_000017.11:g.50840120C>T	gnomAD
WFIKKN2	Q8TEU8	p.Leu279Pro	rs1158139873	missense variant	-	NC_000017.11:g.50840124T>C	gnomAD
WFIKKN2	Q8TEU8	p.Asp281Asn	COSM3519452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840129G>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Ala282Gly	rs756167053	missense variant	-	NC_000017.11:g.50840133C>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala282Asp	rs756167053	missense variant	-	NC_000017.11:g.50840133C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr288Lys	rs764230467	missense variant	-	NC_000017.11:g.50840151C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr288Met	rs764230467	missense variant	-	NC_000017.11:g.50840151C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala289Ser	rs1374386323	missense variant	-	NC_000017.11:g.50840153G>T	gnomAD
WFIKKN2	Q8TEU8	p.Arg290Gln	rs1242001611	missense variant	-	NC_000017.11:g.50840157G>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg290Trp	rs757758304	missense variant	-	NC_000017.11:g.50840156C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asn291Lys	rs779415774	missense variant	-	NC_000017.11:g.50840161C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val292Met	rs746417786	missense variant	-	NC_000017.11:g.50840162G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Val292Glu	rs758954420	missense variant	-	NC_000017.11:g.50840163T>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val292Ala	rs758954420	missense variant	-	NC_000017.11:g.50840163T>C	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val295Phe	rs143687677	missense variant	-	NC_000017.11:g.50840171G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val295Ile	rs143687677	missense variant	-	NC_000017.11:g.50840171G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg297Met	rs1233922917	missense variant	-	NC_000017.11:g.50840178G>T	gnomAD
WFIKKN2	Q8TEU8	p.Ala298Ser	rs772752734	missense variant	-	NC_000017.11:g.50840180G>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Phe300Cys	rs372815087	missense variant	-	NC_000017.11:g.50840187T>G	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro301Leu	rs201598038	missense variant	-	NC_000017.11:g.50840190C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser303Trp	rs201034165	missense variant	-	NC_000017.11:g.50840196C>G	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser303Leu	rs201034165	missense variant	-	NC_000017.11:g.50840196C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val305Asp	rs1375788709	missense variant	-	NC_000017.11:g.50840202T>A	gnomAD
WFIKKN2	Q8TEU8	p.Arg306Thr	rs764225855	missense variant	-	NC_000017.11:g.50840205G>C	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly307Asp	rs757523064	missense variant	-	NC_000017.11:g.50840208G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Gln309His	COSM1384381	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840215G>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Ala310Val	rs1197222474	missense variant	-	NC_000017.11:g.50840217C>T	gnomAD
WFIKKN2	Q8TEU8	p.Ala310ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.50840213_50840219CAGGCTG>-	NCI-TCGA
WFIKKN2	Q8TEU8	p.Ala311Ser	COSM706870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840219G>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Ala311Thr	rs1237964670	missense variant	-	NC_000017.11:g.50840219G>A	gnomAD
WFIKKN2	Q8TEU8	p.Ala312Val	COSM706869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840223C>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Glu315Asp	COSM3795809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840233G>C	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Glu315Lys	COSM3193015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840231G>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Asn319Ser	rs768832854	missense variant	-	NC_000017.11:g.50840244A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly320Cys	rs755637235	missense variant	-	NC_000017.11:g.50840246G>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Thr321Ala	rs1329153272	missense variant	-	NC_000017.11:g.50840249A>G	gnomAD
WFIKKN2	Q8TEU8	p.Thr321Met	rs373654433	missense variant	-	NC_000017.11:g.50840250C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala322Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840253C>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Phe323Ser	rs1338901148	missense variant	-	NC_000017.11:g.50840256T>C	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro324Thr	rs367803084	missense variant	-	NC_000017.11:g.50840258C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro324Leu	rs141860715	missense variant	-	NC_000017.11:g.50840259C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro324Arg	rs141860715	missense variant	-	NC_000017.11:g.50840259C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro324Ser	rs367803084	missense variant	-	NC_000017.11:g.50840258C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala325Val	rs765589347	missense variant	-	NC_000017.11:g.50840262C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala325Glu	rs765589347	missense variant	-	NC_000017.11:g.50840262C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala325Thr	rs1257923771	missense variant	-	NC_000017.11:g.50840261G>A	gnomAD
WFIKKN2	Q8TEU8	p.Glu327Lys	rs1440332245	missense variant	-	NC_000017.11:g.50840267G>A	gnomAD
WFIKKN2	Q8TEU8	p.Leu329Pro	rs1447998588	missense variant	-	NC_000017.11:g.50840274T>C	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro331Thr	rs766751665	missense variant	-	NC_000017.11:g.50840279C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro331Leu	rs1423737669	missense variant	-	NC_000017.11:g.50840280C>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Glu339Lys	rs753365907	missense variant	-	NC_000017.11:g.50840303G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Glu339Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840305A>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Glu340Lys	rs756713667	missense variant	-	NC_000017.11:g.50840306G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Gln341His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840311G>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Gln341Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840310A>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Arg343His	rs371031371	missense variant	-	NC_000017.11:g.50840316G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg343Ser	rs957382387	missense variant	-	NC_000017.11:g.50840315C>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg343Cys	rs957382387	missense variant	-	NC_000017.11:g.50840315C>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Trp344Ter	rs147499684	stop gained	-	NC_000017.11:g.50840320G>A	ESP,TOPMed
WFIKKN2	Q8TEU8	p.His345Arg	rs990675643	missense variant	-	NC_000017.11:g.50840322A>G	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asp347Asn	rs771833676	missense variant	-	NC_000017.11:g.50840327G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gln349Arg	rs746969239	missense variant	-	NC_000017.11:g.50840334A>G	ExAC
WFIKKN2	Q8TEU8	p.Gln349His	rs571894222	missense variant	-	NC_000017.11:g.50840335G>C	1000Genomes,ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Gln349His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840335G>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Ala350Gly	rs1344681547	missense variant	-	NC_000017.11:g.50840337C>G	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asn351Ile	rs1263399438	missense variant	-	NC_000017.11:g.50840340A>T	gnomAD
WFIKKN2	Q8TEU8	p.Cys353Arg	rs761990117	missense variant	-	NC_000017.11:g.50840345T>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Thr355Asn	rs375684150	missense variant	-	NC_000017.11:g.50840352C>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Phe356Ser	rs921358166	missense variant	-	NC_000017.11:g.50840355T>C	TOPMed
WFIKKN2	Q8TEU8	p.Thr357Ala	rs1347920562	missense variant	-	NC_000017.11:g.50840357A>G	TOPMed
WFIKKN2	Q8TEU8	p.Gly359Cys	rs986601473	missense variant	-	NC_000017.11:g.50840363G>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly359Ser	rs986601473	missense variant	-	NC_000017.11:g.50840363G>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly359Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840364G>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.His362Tyr	rs1178063889	missense variant	-	NC_000017.11:g.50840372C>T	gnomAD
WFIKKN2	Q8TEU8	p.Arg363Gly	rs368333058	missense variant	-	NC_000017.11:g.50840375C>G	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg363His	rs759765815	missense variant	-	NC_000017.11:g.50840376G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg363Cys	rs368333058	missense variant	-	NC_000017.11:g.50840375C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu365Phe	rs372245717	missense variant	-	NC_000017.11:g.50840381C>T	ESP,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asn366Ser	rs1297650586	missense variant	-	NC_000017.11:g.50840385A>G	gnomAD
WFIKKN2	Q8TEU8	p.Asn366Lys	rs756821685	missense variant	-	NC_000017.11:g.50840386C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.His367Asn	rs778393121	missense variant	-	NC_000017.11:g.50840387C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.His367Arg	rs750087705	missense variant	-	NC_000017.11:g.50840388A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala373Asp	rs779524725	missense variant	-	NC_000017.11:g.50840406C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Met375Thr	rs768500912	missense variant	-	NC_000017.11:g.50840412T>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Met375Val	rs140094985	missense variant	-	NC_000017.11:g.50840411A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala377Pro	COSM5149471	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840417G>C	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Ala377Asp	rs1037560344	missense variant	-	NC_000017.11:g.50840418C>A	gnomAD
WFIKKN2	Q8TEU8	p.Cys378Tyr	rs748083417	missense variant	-	NC_000017.11:g.50840421G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Met379Ile	rs1192877836	missense variant	-	NC_000017.11:g.50840425G>A	gnomAD
WFIKKN2	Q8TEU8	p.Ser380Asn	COSM4067798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840427G>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Gly381Arg	rs749518805	missense variant	-	NC_000017.11:g.50840429G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro382Leu	rs372115241	missense variant	-	NC_000017.11:g.50840433C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala385Ser	rs776046081	missense variant	-	NC_000017.11:g.50840441G>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala385Thr	rs776046081	missense variant	-	NC_000017.11:g.50840441G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala385Val	rs199953878	missense variant	-	NC_000017.11:g.50840442C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala385Glu	rs199953878	missense variant	-	NC_000017.11:g.50840442C>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser387Thr	rs766062053	missense variant	-	NC_000017.11:g.50840448G>C	ExAC,TOPMed
WFIKKN2	Q8TEU8	p.Ser387Arg	rs754876264	missense variant	-	NC_000017.11:g.50840449C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser387Arg	rs754876264	missense variant	-	NC_000017.11:g.50840449C>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser387Asn	rs766062053	missense variant	-	NC_000017.11:g.50840448G>A	ExAC,TOPMed
WFIKKN2	Q8TEU8	p.Leu388Gln	rs1489546734	missense variant	-	NC_000017.11:g.50840451T>A	TOPMed
WFIKKN2	Q8TEU8	p.Pro389Thr	rs748136500	missense variant	-	NC_000017.11:g.50840453C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro389Ala	rs748136500	missense variant	-	NC_000017.11:g.50840453C>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala390Thr	rs777517936	missense variant	-	NC_000017.11:g.50840456G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala390Val	rs761186463	missense variant	-	NC_000017.11:g.50840457C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly393Trp	rs774643906	missense variant	-	NC_000017.11:g.50840465G>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro394Thr	rs1223092065	missense variant	-	NC_000017.11:g.50840468C>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Cys395Tyr	rs1263667451	missense variant	-	NC_000017.11:g.50840472G>A	gnomAD
WFIKKN2	Q8TEU8	p.Cys395AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.50840464G>-	NCI-TCGA
WFIKKN2	Q8TEU8	p.Ala399Glu	rs144416262	missense variant	-	NC_000017.11:g.50840484C>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala399Thr	rs373424836	missense variant	-	NC_000017.11:g.50840483G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala399Val	rs144416262	missense variant	-	NC_000017.11:g.50840484C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg401His	rs1318906216	missense variant	-	NC_000017.11:g.50840490G>A	gnomAD
WFIKKN2	Q8TEU8	p.Arg401Cys	rs764617600	missense variant	-	NC_000017.11:g.50840489C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Trp402Ter	rs776937774	stop gained	-	NC_000017.11:g.50840493G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Trp402Cys	rs148609730	missense variant	-	NC_000017.11:g.50840494G>C	ESP
WFIKKN2	Q8TEU8	p.Trp402Leu	rs776937774	missense variant	-	NC_000017.11:g.50840493G>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Trp402Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.50840494G>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Asn405Asp	rs1031867476	missense variant	-	NC_000017.11:g.50840501A>G	TOPMed
WFIKKN2	Q8TEU8	p.Thr408Met	rs762540301	missense variant	-	NC_000017.11:g.50840511C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly409Asp	rs1417855627	missense variant	-	NC_000017.11:g.50840514G>A	gnomAD
WFIKKN2	Q8TEU8	p.Gln410Arg	rs767468625	missense variant	-	NC_000017.11:g.50840517A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Gln410Ter	rs754645434	stop gained	-	NC_000017.11:g.50840516C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Gln412His	rs752558505	missense variant	-	NC_000017.11:g.50840524G>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ser413Phe	COSM4963756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840526C>T	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Tyr416His	rs376269773	missense variant	-	NC_000017.11:g.50840534T>C	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly418Asp	COSM3795812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840541G>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Cys419Phe	rs757427745	missense variant	-	NC_000017.11:g.50840544G>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Glu420Lys	rs146688755	missense variant	-	NC_000017.11:g.50840546G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Glu420Gln	rs146688755	missense variant	-	NC_000017.11:g.50840546G>C	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asn422Ser	rs1193013256	missense variant	-	NC_000017.11:g.50840553A>G	TOPMed
WFIKKN2	Q8TEU8	p.Asn425Ser	rs1203530888	missense variant	-	NC_000017.11:g.50840562A>G	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Phe426Val	rs1238324863	missense variant	-	NC_000017.11:g.50840564T>G	gnomAD
WFIKKN2	Q8TEU8	p.Glu427Asp	rs747379046	missense variant	-	NC_000017.11:g.50840569G>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg429Ser	rs370401378	missense variant	-	NC_000017.11:g.50840573C>A	ESP,ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg429His	rs762220352	missense variant	-	NC_000017.11:g.50840574G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg429Cys	rs370401378	missense variant	-	NC_000017.11:g.50840573C>T	ESP,ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala431Asp	rs866548344	missense variant	-	NC_000017.11:g.50840580C>A	gnomAD
WFIKKN2	Q8TEU8	p.Ala431Val	rs866548344	missense variant	-	NC_000017.11:g.50840580C>T	gnomAD
WFIKKN2	Q8TEU8	p.Cys432Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840583G>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Glu434Gly	rs1177231418	missense variant	-	NC_000017.11:g.50840589A>G	gnomAD
WFIKKN2	Q8TEU8	p.Glu434Lys	rs376162378	missense variant	-	NC_000017.11:g.50840588G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser435Leu	rs370541134	missense variant	-	NC_000017.11:g.50840592C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser435Pro	rs1359452902	missense variant	-	NC_000017.11:g.50840591T>C	gnomAD
WFIKKN2	Q8TEU8	p.Pro437Ala	rs767304923	missense variant	-	NC_000017.11:g.50840597C>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro437Ser	rs767304923	missense variant	-	NC_000017.11:g.50840597C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Pro437Leu	rs373708429	missense variant	-	NC_000017.11:g.50840598C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg440Thr	rs1314918040	missense variant	-	NC_000017.11:g.50840607G>C	TOPMed
WFIKKN2	Q8TEU8	p.Arg440Gly	rs763780240	missense variant	-	NC_000017.11:g.50840606A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly441Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840610G>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Asn442Ile	rs753856394	missense variant	-	NC_000017.11:g.50840613A>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asn442Ser	rs753856394	missense variant	-	NC_000017.11:g.50840613A>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg444Gly	rs931183800	missense variant	-	NC_000017.11:g.50840618C>G	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg444Cys	rs931183800	missense variant	-	NC_000017.11:g.50840618C>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg444His	rs368687044	missense variant	-	NC_000017.11:g.50840619G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Cys445Arg	rs916209167	missense variant	-	NC_000017.11:g.50840621T>C	TOPMed
WFIKKN2	Q8TEU8	p.Cys445Tyr	rs778864320	missense variant	-	NC_000017.11:g.50840622G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg446Gly	rs758406365	missense variant	-	NC_000017.11:g.50840624C>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg446Pro	rs371325202	missense variant	-	NC_000017.11:g.50840625G>C	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg446Gln	rs371325202	missense variant	-	NC_000017.11:g.50840625G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg446Trp	rs758406365	missense variant	-	NC_000017.11:g.50840624C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala447Thr	rs747221394	missense variant	-	NC_000017.11:g.50840627G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Cys448Ter	COSM118033	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.50840632C>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Cys448Phe	rs1427719771	missense variant	-	NC_000017.11:g.50840631G>T	gnomAD
WFIKKN2	Q8TEU8	p.Lys449Thr	COSM3692001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840634A>C	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Lys449Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840634A>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Pro450Leu	rs769129205	missense variant	-	NC_000017.11:g.50840637C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg451Gln	rs1324548220	missense variant	-	NC_000017.11:g.50840640G>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu454Arg	rs1442186070	missense variant	-	NC_000017.11:g.50840649T>G	TOPMed
WFIKKN2	Q8TEU8	p.Val455Ile	rs150663986	missense variant	-	NC_000017.11:g.50840651G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr456Ser	rs375510528	missense variant	-	NC_000017.11:g.50840654A>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr456Ala	rs375510528	missense variant	-	NC_000017.11:g.50840654A>G	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg460Cys	rs771646942	missense variant	-	NC_000017.11:g.50840666C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg460His	rs775338259	missense variant	-	NC_000017.11:g.50840667G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asp462Asn	rs764002133	missense variant	-	NC_000017.11:g.50840672G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu466Val	rs753601741	missense variant	-	NC_000017.11:g.50840684C>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg468Gln	rs765091150	missense variant	-	NC_000017.11:g.50840691G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg468Ter	rs761633207	stop gained	-	NC_000017.11:g.50840690C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr473Ala	rs750303031	missense variant	-	NC_000017.11:g.50840705A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Glu474Lys	rs780105838	missense variant	-	NC_000017.11:g.50840708G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Glu475Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840711G>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Asp477Tyr	rs1394169787	missense variant	-	NC_000017.11:g.50840717G>T	gnomAD
WFIKKN2	Q8TEU8	p.Ser478Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.50840721C>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Gly479Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840723G>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Arg480Cys	rs755132286	missense variant	-	NC_000017.11:g.50840726C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg480His	rs748492095	missense variant	-	NC_000017.11:g.50840727G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg480Gly	rs755132286	missense variant	-	NC_000017.11:g.50840726C>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg480Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840726C>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Ala481Thr	rs764764577	missense variant	-	NC_000017.11:g.50840729G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala481Val	rs749796567	missense variant	-	NC_000017.11:g.50840730C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Leu482Pro	rs771773352	missense variant	-	NC_000017.11:g.50840733T>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Val483Met	rs1446379615	missense variant	-	NC_000017.11:g.50840735G>A	gnomAD
WFIKKN2	Q8TEU8	p.Asp491Val	rs746481784	missense variant	-	NC_000017.11:g.50840760A>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Glu492Lys	rs1277960752	missense variant	-	NC_000017.11:g.50840762G>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Lys493Ile	rs1291784146	missense variant	-	NC_000017.11:g.50840766A>T	TOPMed
WFIKKN2	Q8TEU8	p.Met494Val	rs768228243	missense variant	-	NC_000017.11:g.50840768A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Leu496Phe	rs1358709751	missense variant	-	NC_000017.11:g.50840774C>T	TOPMed
WFIKKN2	Q8TEU8	p.Lys497Asn	rs1239184712	missense variant	-	NC_000017.11:g.50840779G>T	gnomAD
WFIKKN2	Q8TEU8	p.Lys497Glu	rs765004822	missense variant	-	NC_000017.11:g.50840777A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Phe498Leu	rs1264750169	missense variant	-	NC_000017.11:g.50840780T>C	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gln501Glu	rs1459331103	missense variant	-	NC_000017.11:g.50840789C>G	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gln501Leu	rs201737037	missense variant	-	NC_000017.11:g.50840790A>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gln501His	rs762844264	missense variant	-	NC_000017.11:g.50840791G>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro503Leu	rs954026458	missense variant	-	NC_000017.11:g.50840796C>T	TOPMed
WFIKKN2	Q8TEU8	p.Thr507Ile	rs1415961242	missense variant	-	NC_000017.11:g.50840808C>T	gnomAD
WFIKKN2	Q8TEU8	p.Val511Met	rs752902840	missense variant	-	NC_000017.11:g.50840819G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val511Leu	rs752902840	missense variant	-	NC_000017.11:g.50840819G>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asp512Gly	rs1400795213	missense variant	-	NC_000017.11:g.50840823A>G	gnomAD
WFIKKN2	Q8TEU8	p.Asp512His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840822G>C	NCI-TCGA
WFIKKN2	Q8TEU8	p.Asp512Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840822G>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Pro516Ala	COSM473033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840834C>G	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Asn519Ser	rs778275964	missense variant	-	NC_000017.11:g.50840844A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Val520Met	rs757864632	missense variant	-	NC_000017.11:g.50840846G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr521Ser	rs1286033846	missense variant	-	NC_000017.11:g.50840849A>T	gnomAD
WFIKKN2	Q8TEU8	p.Val522Met	rs368368753	missense variant	-	NC_000017.11:g.50840852G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val522Leu	rs368368753	missense variant	-	NC_000017.11:g.50840852G>C	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val522Leu	rs368368753	missense variant	-	NC_000017.11:g.50840852G>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser523Gly	rs1248223297	missense variant	-	NC_000017.11:g.50840855A>G	TOPMed
WFIKKN2	Q8TEU8	p.Glu524Lys	rs1320498425	missense variant	-	NC_000017.11:g.50840858G>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro526Leu	rs758296964	missense variant	-	NC_000017.11:g.50840865C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro526Ser	rs866461668	missense variant	-	NC_000017.11:g.50840864C>T	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro526Thr	rs866461668	missense variant	-	NC_000017.11:g.50840864C>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu527Arg	rs762684778	missense variant	-	NC_000017.11:g.50840868T>G	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Met530Lys	rs1424220458	missense variant	-	NC_000017.11:g.50840877T>A	gnomAD
WFIKKN2	Q8TEU8	p.Gly531Ala	rs1467039586	missense variant	-	NC_000017.11:g.50840880G>C	gnomAD
WFIKKN2	Q8TEU8	p.Glu532ArgPheSerTerUnkUnk	COSM5132158	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.50840878G>-	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Glu532Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840882G>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Val533Met	rs764077628	missense variant	-	NC_000017.11:g.50840885G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly535Ser	rs149132129	missense variant	-	NC_000017.11:g.50840891G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Gly535Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840892G>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Gly536Asp	rs1279442864	missense variant	-	NC_000017.11:g.50840895G>A	gnomAD
WFIKKN2	Q8TEU8	p.Gly536Cys	rs1046447327	missense variant	-	NC_000017.11:g.50840894G>T	gnomAD
WFIKKN2	Q8TEU8	p.Gly536Ser	rs1046447327	missense variant	-	NC_000017.11:g.50840894G>A	gnomAD
WFIKKN2	Q8TEU8	p.Met537Ile	rs766628664	missense variant	-	NC_000017.11:g.50840899G>A	TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Met539Val	rs754287539	missense variant	-	NC_000017.11:g.50840903A>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg541Leu	rs371989745	missense variant	-	NC_000017.11:g.50840910G>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg541His	rs371989745	missense variant	-	NC_000017.11:g.50840910G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg541Cys	rs779576946	missense variant	-	NC_000017.11:g.50840909C>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg541Ser	rs779576946	missense variant	-	NC_000017.11:g.50840909C>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Pro542Arg	rs1263896650	missense variant	-	NC_000017.11:g.50840913C>G	gnomAD
WFIKKN2	Q8TEU8	p.Pro542Ser	rs1186587700	missense variant	-	NC_000017.11:g.50840912C>T	gnomAD
WFIKKN2	Q8TEU8	p.Pro542Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840913C>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Asp543Asn	rs777360585	missense variant	-	NC_000017.11:g.50840915G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asp543Tyr	rs777360585	missense variant	-	NC_000017.11:g.50840915G>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Asp543Val	rs749082930	missense variant	-	NC_000017.11:g.50840916A>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ser544Arg	rs1466323777	missense variant	-	NC_000017.11:g.50840920C>G	gnomAD
WFIKKN2	Q8TEU8	p.Phe545Ser	rs770655764	missense variant	-	NC_000017.11:g.50840922T>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ala548Ser	rs376723951	missense variant	-	NC_000017.11:g.50840930G>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala548Thr	rs376723951	missense variant	-	NC_000017.11:g.50840930G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser549Leu	rs775664209	missense variant	-	NC_000017.11:g.50840934C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Ser550Ile	rs760799642	missense variant	-	NC_000017.11:g.50840937G>T	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ser550Gly	rs893269385	missense variant	-	NC_000017.11:g.50840936A>G	TOPMed
WFIKKN2	Q8TEU8	p.Ala551Thr	rs764417577	missense variant	-	NC_000017.11:g.50840939G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Ala551Asp	rs1332075018	missense variant	-	NC_000017.11:g.50840940C>A	gnomAD
WFIKKN2	Q8TEU8	p.Arg552Cys	rs754056592	missense variant	-	NC_000017.11:g.50840942C>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg552Leu	rs762331072	missense variant	-	NC_000017.11:g.50840943G>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg552Pro	rs762331072	missense variant	-	NC_000017.11:g.50840943G>C	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg552His	rs762331072	missense variant	-	NC_000017.11:g.50840943G>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Arg552Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840942C>A	NCI-TCGA
WFIKKN2	Q8TEU8	p.Arg553Gln	rs752279533	missense variant	-	NC_000017.11:g.50840946G>A	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Arg553Trp	rs147063873	missense variant	-	NC_000017.11:g.50840945C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Lys556Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50840955A>C	NCI-TCGA
WFIKKN2	Q8TEU8	p.Arg558Cys	rs1260918880	missense variant	-	NC_000017.11:g.50840960C>T	gnomAD
WFIKKN2	Q8TEU8	p.Arg558His	rs540858152	missense variant	-	NC_000017.11:g.50840961G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Val560Ile	rs1453998863	missense variant	-	NC_000017.11:g.50840966G>A	gnomAD
WFIKKN2	Q8TEU8	p.Met561Lys	rs373311123	missense variant	-	NC_000017.11:g.50840970T>A	ESP,ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Met561Thr	rs373311123	missense variant	-	NC_000017.11:g.50840970T>C	ESP,ExAC,gnomAD
WFIKKN2	Q8TEU8	p.His562Tyr	rs200875842	missense variant	-	NC_000017.11:g.50840972C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Thr565Asn	rs772079733	missense variant	-	NC_000017.11:g.50840982C>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Cys566Tyr	rs1288841501	missense variant	-	NC_000017.11:g.50840985G>A	gnomAD
WFIKKN2	Q8TEU8	p.Cys566Ter	rs1392063315	stop gained	-	NC_000017.11:g.50840986T>A	gnomAD
WFIKKN2	Q8TEU8	p.Val568Ile	rs373741652	missense variant	-	NC_000017.11:g.50840990G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu569Phe	rs1233136458	missense variant	-	NC_000017.11:g.50840993C>T	gnomAD
WFIKKN2	Q8TEU8	p.Glu571Lys	COSM3519455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50840999G>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Phe572Leu	rs762100144	missense variant	-	NC_000017.11:g.50841004T>A	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Phe572Cys	rs777064851	missense variant	-	NC_000017.11:g.50841003T>G	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.Leu573Ile	COSM1384386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.50841005C>A	NCI-TCGA Cosmic
WFIKKN2	Q8TEU8	p.Leu573Pro	rs1260134299	missense variant	-	NC_000017.11:g.50841006T>C	gnomAD
WFIKKN2	Q8TEU8	p.Leu573Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.50841005C>T	NCI-TCGA
WFIKKN2	Q8TEU8	p.Gly574Asp	rs1488764139	missense variant	-	NC_000017.11:g.50841009G>A	gnomAD
WFIKKN2	Q8TEU8	p.Leu575Ser	rs765572666	missense variant	-	NC_000017.11:g.50841012T>C	ExAC,TOPMed,gnomAD
WFIKKN2	Q8TEU8	p.Leu575Phe	rs750823824	missense variant	-	NC_000017.11:g.50841013G>T	ExAC,gnomAD
WFIKKN2	Q8TEU8	p.His576Tyr	rs763183840	missense variant	-	NC_000017.11:g.50841014C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Ala2Val	rs1231260494	missense variant	-	NC_000017.11:g.2042052C>T	gnomAD
OVCA2	Q8WZ82	p.Ala3Val	rs753169301	missense variant	-	NC_000017.11:g.2042055C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gln4Arg	rs949635495	missense variant	-	NC_000017.11:g.2042058A>G	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gln4Glu	rs913645650	missense variant	-	NC_000017.11:g.2042057C>G	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gln4Leu	rs949635495	missense variant	-	NC_000017.11:g.2042058A>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gln4Ter	rs913645650	stop gained	-	NC_000017.11:g.2042057C>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg5Pro	rs778062059	missense variant	-	NC_000017.11:g.2042061G>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Pro6His	rs926822381	missense variant	-	NC_000017.11:g.2042064C>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro6Leu	rs926822381	missense variant	-	NC_000017.11:g.2042064C>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro6Arg	rs926822381	missense variant	-	NC_000017.11:g.2042064C>G	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu7Val	rs532074812	missense variant	-	NC_000017.11:g.2042066C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg8Gln	rs1162227909	missense variant	-	NC_000017.11:g.2042070G>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Val9Ala	rs748079428	missense variant	-	NC_000017.11:g.2042073T>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Val9Phe	rs776753588	missense variant	-	NC_000017.11:g.2042072G>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu10Pro	rs1343932351	missense variant	-	NC_000017.11:g.2042076T>C	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu10Met	rs769738680	missense variant	-	NC_000017.11:g.2042075C>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Cys11Ser	rs773105305	missense variant	-	NC_000017.11:g.2042079G>C	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala13Glu	rs759602658	missense variant	-	NC_000017.11:g.2042085C>A	ExAC
OVCA2	Q8WZ82	p.Gly14Ala	rs1315095519	missense variant	-	NC_000017.11:g.2042088G>C	gnomAD
OVCA2	Q8WZ82	p.Arg16Gln	rs373507810	missense variant	-	NC_000017.11:g.2042094G>A	ESP,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg16Trp	rs753224058	missense variant	-	NC_000017.11:g.2042093C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ser18Arg	rs1326849220	missense variant	-	NC_000017.11:g.2042101C>G	gnomAD
OVCA2	Q8WZ82	p.Ser18Arg	rs1326849220	missense variant	-	NC_000017.11:g.2042101C>A	gnomAD
OVCA2	Q8WZ82	p.Ser18Asn	rs1266429963	missense variant	-	NC_000017.11:g.2042100G>A	TOPMed
OVCA2	Q8WZ82	p.Glu19Lys	rs1210475898	missense variant	-	NC_000017.11:g.2042102G>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Glu19Ter	rs1210475898	stop gained	-	NC_000017.11:g.2042102G>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg20Trp	rs756573006	missense variant	-	NC_000017.11:g.2042105C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly21Asp	rs764443632	missense variant	-	NC_000017.11:g.2042109G>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly21Ser	rs1482633876	missense variant	-	NC_000017.11:g.2042108G>A	gnomAD
OVCA2	Q8WZ82	p.Gly21Val	rs764443632	missense variant	-	NC_000017.11:g.2042109G>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Phe22Ser	rs1008908830	missense variant	-	NC_000017.11:g.2042112T>C	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Phe22Leu	rs754139123	missense variant	-	NC_000017.11:g.2042113C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg23Cys	rs1181039559	missense variant	-	NC_000017.11:g.2042114C>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg23Ser	rs1181039559	missense variant	-	NC_000017.11:g.2042114C>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Thr26Ile	rs777971917	missense variant	-	NC_000017.11:g.2042124C>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Thr26Ser	rs777971917	missense variant	-	NC_000017.11:g.2042124C>G	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly27Arg	rs1038180106	missense variant	-	NC_000017.11:g.2042126G>C	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala28Thr	rs545120649	missense variant	-	NC_000017.11:g.2042129G>A	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala28Pro	rs545120649	missense variant	-	NC_000017.11:g.2042129G>C	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala28Val	rs1348368357	missense variant	-	NC_000017.11:g.2042130C>T	gnomAD
OVCA2	Q8WZ82	p.Leu29Pro	rs748130733	missense variant	-	NC_000017.11:g.2042133T>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Lys31Asn	rs769788020	missense variant	-	NC_000017.11:g.2042140G>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Leu33Val	rs564933862	missense variant	-	NC_000017.11:g.2042144C>G	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg34Trp	rs1483308444	missense variant	-	NC_000017.11:g.2042147C>T	gnomAD
OVCA2	Q8WZ82	p.Arg34Leu	rs376438806	missense variant	-	NC_000017.11:g.2042148G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly35Cys	rs371008735	missense variant	-	NC_000017.11:g.2042150G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg36Cys	rs1183439974	missense variant	-	NC_000017.11:g.2042153C>T	gnomAD
OVCA2	Q8WZ82	p.Ala37Thr	rs1431890879	missense variant	-	NC_000017.11:g.2042156G>A	gnomAD
OVCA2	Q8WZ82	p.Glu38Lys	rs754335335	missense variant	-	NC_000017.11:g.2042159G>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.Val40Met	rs765615461	missense variant	-	NC_000017.11:g.2042165G>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Cys41Tyr	rs1410670433	missense variant	-	NC_000017.11:g.2042169G>A	gnomAD
OVCA2	Q8WZ82	p.Leu42Arg	rs1217365403	missense variant	-	NC_000017.11:g.2042172T>G	gnomAD
OVCA2	Q8WZ82	p.Leu42Phe	rs751196587	missense variant	-	NC_000017.11:g.2042171C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Ser43Asn	rs1455720121	missense variant	-	NC_000017.11:g.2042175G>A	TOPMed
OVCA2	Q8WZ82	p.Gly44Ala	rs529933360	missense variant	-	NC_000017.11:g.2042178G>C	1000Genomes,TOPMed
OVCA2	Q8WZ82	p.Pro45Leu	rs1463550931	missense variant	-	NC_000017.11:g.2042181C>T	TOPMed
OVCA2	Q8WZ82	p.Pro45Ser	rs1347947103	missense variant	-	NC_000017.11:g.2042180C>T	gnomAD
OVCA2	Q8WZ82	p.Val48Phe	rs754623230	missense variant	-	NC_000017.11:g.2042189G>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Val48Leu	rs754623230	missense variant	-	NC_000017.11:g.2042189G>C	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Val48Ile	rs754623230	missense variant	-	NC_000017.11:g.2042189G>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Asp50Asn	rs1205450071	missense variant	-	NC_000017.11:g.2042195G>A	gnomAD
OVCA2	Q8WZ82	p.Asp50Ala	rs201458913	missense variant	-	NC_000017.11:g.2042196A>C	TOPMed
OVCA2	Q8WZ82	p.Asp50Gly	rs201458913	missense variant	-	NC_000017.11:g.2042196A>G	TOPMed
OVCA2	Q8WZ82	p.Asp50Glu	rs199650013	missense variant	-	NC_000017.11:g.2042197C>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Asp50Glu	rs199650013	missense variant	-	NC_000017.11:g.2042197C>G	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro51Thr	rs780857765	missense variant	-	NC_000017.11:g.2042198C>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro51Ala	rs780857765	missense variant	-	NC_000017.11:g.2042198C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro52Leu	rs752196726	missense variant	-	NC_000017.11:g.2042202C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro52Arg	rs752196726	missense variant	-	NC_000017.11:g.2042202C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro54Ala	rs749220856	missense variant	-	NC_000017.11:g.2042207C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro54Ser	rs749220856	missense variant	-	NC_000017.11:g.2042207C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro54Thr	rs749220856	missense variant	-	NC_000017.11:g.2042207C>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Glu55Gly	rs1392114921	missense variant	-	NC_000017.11:g.2042211A>G	gnomAD
OVCA2	Q8WZ82	p.Gly56Ser	rs1323176171	missense variant	-	NC_000017.11:g.2042213G>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly56Asp	rs1349057784	missense variant	-	NC_000017.11:g.2042214G>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly56Val	rs1349057784	missense variant	-	NC_000017.11:g.2042214G>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly56Arg	rs1323176171	missense variant	-	NC_000017.11:g.2042213G>C	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala57Gly	rs770652391	missense variant	-	NC_000017.11:g.2042217C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala57Val	rs770652391	missense variant	-	NC_000017.11:g.2042217C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg58Lys	rs979165634	missense variant	-	NC_000017.11:g.2042220G>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg58Ile	rs979165634	missense variant	-	NC_000017.11:g.2042220G>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Phe61Leu	rs890546253	missense variant	-	NC_000017.11:g.2042230C>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly62Arg	rs926770062	missense variant	-	NC_000017.11:g.2042231G>A	TOPMed
OVCA2	Q8WZ82	p.Gly62Val	rs780291111	missense variant	-	NC_000017.11:g.2042605G>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly62Ala	rs780291111	missense variant	-	NC_000017.11:g.2042605G>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly62Glu	rs780291111	missense variant	-	NC_000017.11:g.2042605G>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly62Arg	rs926770062	missense variant	-	NC_000017.11:g.2042231G>C	TOPMed
OVCA2	Q8WZ82	p.Ser63Thr	rs974116528	missense variant	-	NC_000017.11:g.2042607T>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Cys64Phe	rs113371792	missense variant	-	NC_000017.11:g.2042611G>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Cys64Tyr	rs113371792	missense variant	-	NC_000017.11:g.2042611G>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.Cys64Arg	rs748610578	missense variant	-	NC_000017.11:g.2042610T>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Pro65Ser	rs763479379	missense variant	-	NC_000017.11:g.2042613C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Pro65Leu	rs766820542	missense variant	-	NC_000017.11:g.2042614C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro66Leu	rs1211946382	missense variant	-	NC_000017.11:g.2042617C>T	TOPMed
OVCA2	Q8WZ82	p.Glu68Gln	rs552122556	missense variant	-	NC_000017.11:g.2042622G>C	1000Genomes,ExAC,gnomAD
OVCA2	Q8WZ82	p.Pro70Ser	rs760362246	missense variant	-	NC_000017.11:g.2042628C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Arg71Ter	rs763515350	stop gained	-	NC_000017.11:g.2042631C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly72Ser	rs753330182	missense variant	-	NC_000017.11:g.2042634G>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly72Ala	rs765281802	missense variant	-	NC_000017.11:g.2042635G>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly72Arg	rs753330182	missense variant	-	NC_000017.11:g.2042634G>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly72Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2042634G>T	NCI-TCGA
OVCA2	Q8WZ82	p.Trp73Cys	rs779777575	missense variant	-	NC_000017.11:g.2042639G>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Trp73Ter	rs758236126	stop gained	-	NC_000017.11:g.2042638G>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.Trp73Ter	rs779777575	stop gained	-	NC_000017.11:g.2042639G>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.Trp74Ter	rs747266426	stop gained	-	NC_000017.11:g.2042641G>A	ExAC
OVCA2	Q8WZ82	p.Glu77Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2042650A>T	NCI-TCGA
OVCA2	Q8WZ82	p.Glu79Lys	rs1350229810	missense variant	-	NC_000017.11:g.2042655G>A	gnomAD
OVCA2	Q8WZ82	p.Ala80Val	rs1227006697	missense variant	-	NC_000017.11:g.2042659C>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Asp81Asn	rs1373652235	missense variant	-	NC_000017.11:g.2042661G>A	TOPMed
OVCA2	Q8WZ82	p.Val82Ile	rs1351945745	missense variant	-	NC_000017.11:g.2042664G>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala85Ser	rs886225077	missense variant	-	NC_000017.11:g.2042673G>T	gnomAD
OVCA2	Q8WZ82	p.Ala85Thr	rs886225077	missense variant	-	NC_000017.11:g.2042673G>A	gnomAD
OVCA2	Q8WZ82	p.Leu86Ser	rs1453006736	missense variant	-	NC_000017.11:g.2042677T>C	TOPMed
OVCA2	Q8WZ82	p.Glu88Asp	rs748317353	missense variant	-	NC_000017.11:g.2042684G>C	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro89Ala	rs1016467231	missense variant	-	NC_000017.11:g.2042685C>G	gnomAD
OVCA2	Q8WZ82	p.Pro89Ser	rs1016467231	missense variant	-	NC_000017.11:g.2042685C>T	gnomAD
OVCA2	Q8WZ82	p.Ala90Thr	rs944824870	missense variant	-	NC_000017.11:g.2042688G>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg93Lys	rs773810080	missense variant	-	NC_000017.11:g.2042698G>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg93Ser	rs749792381	missense variant	-	NC_000017.11:g.2042699G>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly94Asp	rs137977848	missense variant	-	NC_000017.11:g.2042701G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly94Arg	rs771450816	missense variant	-	NC_000017.11:g.2042700G>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Leu95Gln	rs142574497	missense variant	-	NC_000017.11:g.2042704T>A	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Glu96Lys	rs1336748971	missense variant	-	NC_000017.11:g.2042706G>A	gnomAD
OVCA2	Q8WZ82	p.Met101Val	rs1262829835	missense variant	-	NC_000017.11:g.2042721A>G	TOPMed
OVCA2	Q8WZ82	p.Val102Met	rs188768719	missense variant	-	NC_000017.11:g.2042724G>A	1000Genomes,ExAC,gnomAD
OVCA2	Q8WZ82	p.Ala103Val	rs776139031	missense variant	-	NC_000017.11:g.2042728C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gln104Arg	rs1274015533	missense variant	-	NC_000017.11:g.2042731A>G	gnomAD
OVCA2	Q8WZ82	p.Leu106Met	rs1482161454	missense variant	-	NC_000017.11:g.2042736C>A	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Asn107His	rs199716020	missense variant	-	NC_000017.11:g.2042739A>C	1000Genomes,ExAC,gnomAD
OVCA2	Q8WZ82	p.Asn107Lys	rs1438221851	missense variant	-	NC_000017.11:g.2042741C>G	gnomAD
OVCA2	Q8WZ82	p.Arg108Thr	rs764627413	missense variant	-	NC_000017.11:g.2042743G>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Leu109Val	rs750380507	missense variant	-	NC_000017.11:g.2042745C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu109Pro	rs1293438900	missense variant	-	NC_000017.11:g.2042746T>C	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly110Glu	rs1323672558	missense variant	-	NC_000017.11:g.2042749G>A	TOPMed
OVCA2	Q8WZ82	p.Gly110Arg	rs758295276	missense variant	-	NC_000017.11:g.2042748G>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Pro111Leu	rs766169823	missense variant	-	NC_000017.11:g.2042752C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Phe112Leu	rs751301699	missense variant	-	NC_000017.11:g.2042756T>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly114Asp	rs1243263031	missense variant	-	NC_000017.11:g.2042761G>A	gnomAD
OVCA2	Q8WZ82	p.Gly114Ser	rs144653729	missense variant	-	NC_000017.11:g.2042760G>A	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu115Phe	rs138550949	missense variant	-	NC_000017.11:g.2042763C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu116Phe	rs1207298762	missense variant	-	NC_000017.11:g.2042766C>T	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu116Arg	rs534536718	missense variant	-	NC_000017.11:g.2042767T>G	1000Genomes,ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly117Ala	rs1296903159	missense variant	-	NC_000017.11:g.2042770G>C	gnomAD
OVCA2	Q8WZ82	p.Gly117Ser	rs1395739093	missense variant	-	NC_000017.11:g.2042769G>A	TOPMed
OVCA2	Q8WZ82	p.Gly117Asp	rs1296903159	missense variant	-	NC_000017.11:g.2042770G>A	gnomAD
OVCA2	Q8WZ82	p.Phe118Val	rs1340169751	missense variant	-	NC_000017.11:g.2042772T>G	gnomAD
OVCA2	Q8WZ82	p.Gln120His	rs548112943	missense variant	-	NC_000017.11:g.2042780A>T	1000Genomes,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gln120Pro	rs936566545	missense variant	-	NC_000017.11:g.2042779A>C	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly121Arg	rs1206252170	missense variant	-	NC_000017.11:g.2042781G>A	TOPMed
OVCA2	Q8WZ82	p.Ala123Val	rs376903820	missense variant	-	NC_000017.11:g.2042788C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu124Pro	rs1188847294	missense variant	-	NC_000017.11:g.2042791T>C	gnomAD
OVCA2	Q8WZ82	p.Ala125Gly	rs1054966806	missense variant	-	NC_000017.11:g.2042794C>G	TOPMed
OVCA2	Q8WZ82	p.Ala126Thr	rs1265005160	missense variant	-	NC_000017.11:g.2042796G>A	gnomAD
OVCA2	Q8WZ82	p.Ala126Asp	rs1469719189	missense variant	-	NC_000017.11:g.2042797C>A	gnomAD
OVCA2	Q8WZ82	p.Leu127Phe	rs777667168	missense variant	-	NC_000017.11:g.2042799C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Leu127Arg	rs1246835922	missense variant	-	NC_000017.11:g.2042800T>G	gnomAD
OVCA2	Q8WZ82	p.Cys129Gly	rs376955303	missense variant	-	NC_000017.11:g.2042805T>G	ESP,ExAC,gnomAD
OVCA2	Q8WZ82	p.Cys129Ter	rs571132032	stop gained	-	NC_000017.11:g.2042807T>A	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala130Thr	rs1373354825	missense variant	-	NC_000017.11:g.2042808G>A	gnomAD
OVCA2	Q8WZ82	p.Ala134Val	rs1297566012	missense variant	-	NC_000017.11:g.2042821C>T	TOPMed
OVCA2	Q8WZ82	p.Gly135Val	rs1161760694	missense variant	-	NC_000017.11:g.2042824G>T	gnomAD
OVCA2	Q8WZ82	p.Arg138His	rs1400546290	missense variant	-	NC_000017.11:g.2042833G>A	TOPMed
OVCA2	Q8WZ82	p.Arg138Cys	rs1397165508	missense variant	-	NC_000017.11:g.2042832C>T	gnomAD
OVCA2	Q8WZ82	p.Pro140Leu	rs1363088691	missense variant	-	NC_000017.11:g.2042839C>T	gnomAD
OVCA2	Q8WZ82	p.Pro140Ser	rs201826758	missense variant	-	NC_000017.11:g.2042838C>T	1000Genomes,ExAC,gnomAD
OVCA2	Q8WZ82	p.Leu141Phe	rs772289617	missense variant	-	NC_000017.11:g.2042843G>C	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro142Leu	rs1340025889	missense variant	-	NC_000017.11:g.2042845C>T	gnomAD
OVCA2	Q8WZ82	p.Arg143Trp	rs776391489	missense variant	-	NC_000017.11:g.2042847C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Ile145Val	rs761320918	missense variant	-	NC_000017.11:g.2042853A>G	ExAC,gnomAD
OVCA2	Q8WZ82	p.Leu146Phe	rs769380354	missense variant	-	NC_000017.11:g.2042856C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu146Ile	rs769380354	missense variant	-	NC_000017.11:g.2042856C>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Val148Leu	rs766365678	missense variant	-	NC_000017.11:g.2042862G>T	ExAC
OVCA2	Q8WZ82	p.Ser149Thr	rs751494070	missense variant	-	NC_000017.11:g.2042865T>A	ExAC
OVCA2	Q8WZ82	p.Ser149Cys	rs759416135	missense variant	-	NC_000017.11:g.2042866C>G	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gly150Arg	rs767195534	missense variant	-	NC_000017.11:g.2042868G>C	ExAC,TOPMed
OVCA2	Q8WZ82	p.Gly150Cys	rs767195534	missense variant	-	NC_000017.11:g.2042868G>T	ExAC,TOPMed
OVCA2	Q8WZ82	p.Pro153Arg	rs752988476	missense variant	-	NC_000017.11:g.2042878C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Arg154Gln	rs1475765921	missense variant	-	NC_000017.11:g.2042881G>A	gnomAD
OVCA2	Q8WZ82	p.Arg154Trp	rs778012131	missense variant	-	NC_000017.11:g.2042880C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly155Ser	rs1387177690	missense variant	-	NC_000017.11:g.2042883G>A	gnomAD
OVCA2	Q8WZ82	p.Ile156Thr	rs147982466	missense variant	-	NC_000017.11:g.2042887T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ile156Val	rs757404246	missense variant	-	NC_000017.11:g.2042886A>G	ExAC,gnomAD
OVCA2	Q8WZ82	p.Ile156Met	rs746354384	missense variant	-	NC_000017.11:g.2042888T>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly157Ala	rs1315156731	missense variant	-	NC_000017.11:g.2042890G>C	gnomAD
OVCA2	Q8WZ82	p.Phe158Leu	rs761067744	missense variant	-	NC_000017.11:g.2042894C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu163Pro	rs1217885306	missense variant	-	NC_000017.11:g.2042908T>C	gnomAD
OVCA2	Q8WZ82	p.Gln164Arg	rs1260757704	missense variant	-	NC_000017.11:g.2042911A>G	gnomAD
OVCA2	Q8WZ82	p.Arg165Thr	rs1198345919	missense variant	-	NC_000017.11:g.2042914G>C	gnomAD
OVCA2	Q8WZ82	p.Pro166Thr	rs762516476	missense variant	-	NC_000017.11:g.2042916C>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro166Leu	rs1291202807	missense variant	-	NC_000017.11:g.2042917C>T	TOPMed
OVCA2	Q8WZ82	p.Ser168Leu	rs1416448993	missense variant	-	NC_000017.11:g.2042923C>T	TOPMed
OVCA2	Q8WZ82	p.Pro170Leu	rs752374799	missense variant	-	NC_000017.11:g.2042929C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ser171Leu	rs760502735	missense variant	-	NC_000017.11:g.2042932C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu172Ile	rs764581097	missense variant	-	NC_000017.11:g.2042934C>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.His173Arg	rs1307545991	missense variant	-	NC_000017.11:g.2042938A>G	gnomAD
OVCA2	Q8WZ82	p.Val174Phe	rs1464653625	missense variant	-	NC_000017.11:g.2042940G>T	gnomAD
OVCA2	Q8WZ82	p.Asp177Tyr	rs754077305	missense variant	-	NC_000017.11:g.2042949G>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Thr178Ser	rs765358031	missense variant	-	NC_000017.11:g.2042952A>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Asp179Asn	rs1353351151	missense variant	-	NC_000017.11:g.2042955G>A	gnomAD
OVCA2	Q8WZ82	p.Lys180Glu	rs1225361068	missense variant	-	NC_000017.11:g.2042958A>G	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Lys180Arg	rs750970512	missense variant	-	NC_000017.11:g.2042959A>G	ExAC,gnomAD
OVCA2	Q8WZ82	p.Val181Gly	rs140891546	missense variant	-	NC_000017.11:g.2042962T>G	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Val181Asp	rs140891546	missense variant	-	NC_000017.11:g.2042962T>A	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Val181Ile	rs370411043	missense variant	-	NC_000017.11:g.2042961G>A	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Pro183Leu	rs755366316	missense variant	-	NC_000017.11:g.2042968C>T	ExAC
OVCA2	Q8WZ82	p.Ser184Ala	rs144850435	missense variant	-	NC_000017.11:g.2042970T>G	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ser184Phe	rs748920646	missense variant	-	NC_000017.11:g.2042971C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gln185Glu	rs770453617	missense variant	-	NC_000017.11:g.2042973C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Glu186Ter	rs745829483	stop gained	-	NC_000017.11:g.2042976G>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ser187Arg	rs537387783	missense variant	-	NC_000017.11:g.2042981T>G	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ser187Cys	rs771958531	missense variant	-	NC_000017.11:g.2042979A>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Ser187Arg	rs537387783	missense variant	-	NC_000017.11:g.2042981T>A	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ser187Thr	rs374371278	missense variant	-	NC_000017.11:g.2042980G>C	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ser187Asn	rs374371278	missense variant	-	NC_000017.11:g.2042980G>A	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Val188Gly	rs967837842	missense variant	-	NC_000017.11:g.2042983T>G	gnomAD
OVCA2	Q8WZ82	p.Val188Ala	rs967837842	missense variant	-	NC_000017.11:g.2042983T>C	gnomAD
OVCA2	Q8WZ82	p.Leu190Gln	rs765410533	missense variant	-	NC_000017.11:g.2042989T>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.Leu190Val	rs762085995	missense variant	-	NC_000017.11:g.2042988C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala191Val	rs750414536	missense variant	-	NC_000017.11:g.2042992C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ser192Gly	rs1157246939	missense variant	-	NC_000017.11:g.2042994A>G	TOPMed
OVCA2	Q8WZ82	p.Ser192Arg	rs1468275115	missense variant	-	NC_000017.11:g.2042996C>G	TOPMed
OVCA2	Q8WZ82	p.Pro195Ala	rs766862540	missense variant	-	NC_000017.11:g.2043003C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala197Val	rs755389251	missense variant	-	NC_000017.11:g.2043010C>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Thr199Ser	rs1270509025	missense variant	-	NC_000017.11:g.2043016C>G	gnomAD
OVCA2	Q8WZ82	p.Leu200Phe	rs779332793	missense variant	-	NC_000017.11:g.2043018C>T	gnomAD
OVCA2	Q8WZ82	p.Thr201Pro	rs373760635	missense variant	-	NC_000017.11:g.2043021A>C	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Gly204Ala	rs1253666413	missense variant	-	NC_000017.11:g.2043031G>C	gnomAD
OVCA2	Q8WZ82	p.Gly205Ser	rs778612638	missense variant	-	NC_000017.11:g.2043033G>A	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.His206Gln	rs745433139	missense variant	-	NC_000017.11:g.2043038C>G	ExAC,gnomAD
OVCA2	Q8WZ82	p.His206Tyr	rs750669088	missense variant	-	NC_000017.11:g.2043036C>T	gnomAD
OVCA2	Q8WZ82	p.Phe207Leu	rs771576688	missense variant	-	NC_000017.11:g.2043041C>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ile208Thr	rs1349068173	missense variant	-	NC_000017.11:g.2043043T>C	gnomAD
OVCA2	Q8WZ82	p.Ile208Leu	rs775333931	missense variant	-	NC_000017.11:g.2043042A>C	ExAC,gnomAD
OVCA2	Q8WZ82	p.Ile208Phe	rs775333931	missense variant	-	NC_000017.11:g.2043042A>T	ExAC,gnomAD
OVCA2	Q8WZ82	p.Pro209Leu	rs746915141	missense variant	-	NC_000017.11:g.2043046C>T	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala210Val	rs201370540	missense variant	-	NC_000017.11:g.2043049C>T	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala210Pro	rs200430646	missense variant	-	NC_000017.11:g.2043048G>C	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala210Thr	rs200430646	missense variant	-	NC_000017.11:g.2043048G>A	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala210Glu	rs201370540	missense variant	-	NC_000017.11:g.2043049C>A	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala210Ser	rs200430646	missense variant	-	NC_000017.11:g.2043048G>T	1000Genomes,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala211Val	rs1433633343	missense variant	-	NC_000017.11:g.2043052C>T	gnomAD
OVCA2	Q8WZ82	p.Ala212Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2043055C>G	NCI-TCGA
OVCA2	Q8WZ82	p.Gln214Ter	rs1363716626	stop gained	-	NC_000017.11:g.2043060C>T	gnomAD
OVCA2	Q8WZ82	p.Arg215Ser	rs762983366	missense variant	-	NC_000017.11:g.2043063C>A	ExAC,gnomAD
OVCA2	Q8WZ82	p.Tyr218His	rs766465095	missense variant	-	NC_000017.11:g.2043072T>C	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Tyr218Cys	rs752033411	missense variant	-	NC_000017.11:g.2043073A>G	ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu219Pro	rs193209375	missense variant	-	NC_000017.11:g.2043076T>C	1000Genomes
OVCA2	Q8WZ82	p.Leu219Phe	rs145145227	missense variant	-	NC_000017.11:g.2043075C>T	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Leu219Val	rs145145227	missense variant	-	NC_000017.11:g.2043075C>G	ESP,ExAC,TOPMed,gnomAD
OVCA2	Q8WZ82	p.Lys220Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2043078A>G	NCI-TCGA
OVCA2	Q8WZ82	p.Leu222Trp	rs767875191	missense variant	-	NC_000017.11:g.2043085T>G	ExAC,gnomAD
OVCA2	Q8WZ82	p.Gln224Ter	rs995658052	stop gained	-	NC_000017.11:g.2043090C>T	TOPMed
OVCA2	Q8WZ82	p.Phe225Ser	rs1243908833	missense variant	-	NC_000017.11:g.2043094T>C	TOPMed,gnomAD
OVCA2	Q8WZ82	p.Ala226Val	rs756462682	missense variant	-	NC_000017.11:g.2043097C>T	ExAC,TOPMed
OVCA2	Q8WZ82	p.Ter228Arg	rs778467042	stop lost	-	NC_000017.11:g.2043102T>C	ExAC,gnomAD
ANP32B	Q92688	p.Asp2Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97983559G>A	NCI-TCGA
ANP32B	Q92688	p.Met3Val	rs1277307714	missense variant	-	NC_000009.12:g.97983562A>G	gnomAD
ANP32B	Q92688	p.Lys4Asn	rs1440265144	missense variant	-	NC_000009.12:g.97983567G>C	TOPMed,gnomAD
ANP32B	Q92688	p.Arg5Trp	rs1211785897	missense variant	-	NC_000009.12:g.97983568A>T	gnomAD
ANP32B	Q92688	p.Arg6Lys	rs1246417199	missense variant	-	NC_000009.12:g.97983572G>A	TOPMed
ANP32B	Q92688	p.Ile7Thr	rs1237744954	missense variant	-	NC_000009.12:g.97983575T>C	gnomAD
ANP32B	Q92688	p.Leu9Met	rs866406709	missense variant	-	NC_000009.12:g.97983580C>A	gnomAD
ANP32B	Q92688	p.Glu10Lys	rs1443098778	missense variant	-	NC_000009.12:g.97983583G>A	TOPMed
ANP32B	Q92688	p.Glu10Val	rs1382043461	missense variant	-	NC_000009.12:g.97983584A>T	gnomAD
ANP32B	Q92688	p.Thr15Ala	rs1017983718	missense variant	-	NC_000009.12:g.97983598A>G	TOPMed,gnomAD
ANP32B	Q92688	p.Thr15Ile	rs374378445	missense variant	-	NC_000009.12:g.97983599C>T	ESP,ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Pro16Leu	rs866732118	missense variant	-	NC_000009.12:g.97983602C>T	gnomAD
ANP32B	Q92688	p.Pro16Gln	rs866732118	missense variant	-	NC_000009.12:g.97983602C>A	gnomAD
ANP32B	Q92688	p.Ala17Glu	rs1276585548	missense variant	-	NC_000009.12:g.97983605C>A	TOPMed
ANP32B	Q92688	p.Ala18Gly	rs1234200164	missense variant	-	NC_000009.12:g.97983608C>G	gnomAD
ANP32B	Q92688	p.Ala18Asp	rs1234200164	missense variant	-	NC_000009.12:g.97983608C>A	gnomAD
ANP32B	Q92688	p.Arg20Gln	rs776354657	missense variant	-	NC_000009.12:g.97994635G>A	ExAC,gnomAD
ANP32B	Q92688	p.Arg20Ter	COSM3432694	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.97994634C>T	NCI-TCGA Cosmic
ANP32B	Q92688	p.Ser29Ter	COSM752335	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.97994662C>G	NCI-TCGA Cosmic
ANP32B	Q92688	p.Asn30Ile	COSM1314305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97994665A>T	NCI-TCGA Cosmic
ANP32B	Q92688	p.Lys33Asn	rs142118802	missense variant	-	NC_000009.12:g.97994675A>C	ESP,ExAC
ANP32B	Q92688	p.Ile34Thr	rs376602943	missense variant	-	NC_000009.12:g.97994677T>C	ESP,TOPMed,gnomAD
ANP32B	Q92688	p.Ala39Thr	rs1469384005	missense variant	-	NC_000009.12:g.97994691G>A	gnomAD
ANP32B	Q92688	p.Ala39Asp	rs1358288838	missense variant	-	NC_000009.12:g.97994692C>A	gnomAD
ANP32B	Q92688	p.Glu45Asp	rs1218929127	missense variant	-	NC_000009.12:g.97994711G>T	gnomAD
ANP32B	Q92688	p.Leu47Pro	rs767568260	missense variant	-	NC_000009.12:g.97994716T>C	ExAC,gnomAD
ANP32B	Q92688	p.Ser48Gly	rs973099581	missense variant	-	NC_000009.12:g.97994718A>G	TOPMed
ANP32B	Q92688	p.Val52Ile	rs756222170	missense variant	-	NC_000009.12:g.97994730G>A	ExAC,gnomAD
ANP32B	Q92688	p.Leu60Arg	COSM1464343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97994755T>G	NCI-TCGA Cosmic
ANP32B	Q92688	p.Leu60Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97994754C>A	NCI-TCGA
ANP32B	Q92688	p.Lys62Met	COSM3835257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97994761A>T	NCI-TCGA Cosmic
ANP32B	Q92688	p.Leu63Met	rs1473362999	missense variant	-	NC_000009.12:g.97994763C>A	gnomAD
ANP32B	Q92688	p.Pro64His	rs764181693	missense variant	-	NC_000009.12:g.97994767C>A	ExAC,gnomAD
ANP32B	Q92688	p.Lys68Gln	COSM1103077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.97994778A>C	NCI-TCGA Cosmic
ANP32B	Q92688	p.Leu71Phe	rs138669342	missense variant	-	NC_000009.12:g.97998562C>T	ESP,ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Ser72Gly	rs1311655242	missense variant	-	NC_000009.12:g.97998565A>G	gnomAD
ANP32B	Q92688	p.Gly78Glu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97998584G>A	NCI-TCGA
ANP32B	Q92688	p.Gly79Ser	rs991523817	missense variant	-	NC_000009.12:g.97998586G>A	gnomAD
ANP32B	Q92688	p.Gly79Val	rs1231206458	missense variant	-	NC_000009.12:g.97998587G>T	gnomAD
ANP32B	Q92688	p.Leu80Met	rs1324561783	missense variant	-	NC_000009.12:g.97998589C>A	gnomAD
ANP32B	Q92688	p.Ala84Val	rs1178261907	missense variant	-	NC_000009.12:g.97998602C>T	gnomAD
ANP32B	Q92688	p.Ala84Thr	rs753976201	missense variant	-	NC_000009.12:g.97998601G>A	ExAC,gnomAD
ANP32B	Q92688	p.Glu85Gly	rs757567396	missense variant	-	NC_000009.12:g.97998605A>G	ExAC,gnomAD
ANP32B	Q92688	p.Leu87Pro	rs765686344	missense variant	-	NC_000009.12:g.97998611T>C	ExAC,gnomAD
ANP32B	Q92688	p.Pro88Leu	rs750761331	missense variant	-	NC_000009.12:g.97998614C>T	ExAC,gnomAD
ANP32B	Q92688	p.Asn89Tyr	rs1378945982	missense variant	-	NC_000009.12:g.97998616A>T	gnomAD
ANP32B	Q92688	p.Thr91Ile	rs1272322942	missense variant	-	NC_000009.12:g.97998623C>T	gnomAD
ANP32B	Q92688	p.Thr91Ala	rs758841211	missense variant	-	NC_000009.12:g.97998622A>G	ExAC,gnomAD
ANP32B	Q92688	p.Asn98Ser	rs1448780591	missense variant	-	NC_000009.12:g.97998644A>G	gnomAD
ANP32B	Q92688	p.Lys101Asn	rs754411628	missense variant	-	NC_000009.12:g.97998654A>C	ExAC,gnomAD
ANP32B	Q92688	p.Asp102Val	rs1366853824	missense variant	-	NC_000009.12:g.97998656A>T	gnomAD
ANP32B	Q92688	p.Asp102Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.97998656A>C	NCI-TCGA
ANP32B	Q92688	p.Ile103Thr	rs1437197011	missense variant	-	NC_000009.12:g.97998659T>C	TOPMed,gnomAD
ANP32B	Q92688	p.Ile103Met	rs535530800	missense variant	-	NC_000009.12:g.97998660C>G	1000Genomes,ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Ser104Arg	rs1156729575	missense variant	-	NC_000009.12:g.97998663C>G	TOPMed
ANP32B	Q92688	p.Lys110Glu	rs777366211	missense variant	-	NC_000009.12:g.98004964A>G	ExAC,gnomAD
ANP32B	Q92688	p.Glu113Gln	rs1382025307	missense variant	-	NC_000009.12:g.98004973G>C	TOPMed
ANP32B	Q92688	p.Ser117Ile	rs748979952	missense variant	-	NC_000009.12:g.98004986G>T	ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Ser117Asn	rs748979952	missense variant	-	NC_000009.12:g.98004986G>A	ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Leu120Phe	rs1476195765	missense variant	-	NC_000009.12:g.98004994C>T	TOPMed,gnomAD
ANP32B	Q92688	p.Leu120Val	rs1476195765	missense variant	-	NC_000009.12:g.98004994C>G	TOPMed,gnomAD
ANP32B	Q92688	p.Asn122Ile	rs1412787627	missense variant	-	NC_000009.12:g.98005001A>T	gnomAD
ANP32B	Q92688	p.Glu124Val	NCI-TCGA novel	missense variant	-	NC_000009.12:g.98005007A>T	NCI-TCGA
ANP32B	Q92688	p.Leu128Val	rs377406514	missense variant	-	NC_000009.12:g.98005018C>G	ESP,ExAC,gnomAD
ANP32B	Q92688	p.Asp130Ala	rs182096718	missense variant	-	NC_000009.12:g.98005025A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Asp130Gly	COSM5131905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.98005025A>G	NCI-TCGA Cosmic
ANP32B	Q92688	p.Glu133Gln	rs771977254	missense variant	-	NC_000009.12:g.98005033G>C	ExAC,gnomAD
ANP32B	Q92688	p.Ser134Arg	rs775300881	missense variant	-	NC_000009.12:g.98005038T>G	ExAC,gnomAD
ANP32B	Q92688	p.Val135Ile	rs1431749321	missense variant	-	NC_000009.12:g.98005039G>A	TOPMed,gnomAD
ANP32B	Q92688	p.Lys137Arg	rs1302544606	missense variant	-	NC_000009.12:g.98005046A>G	gnomAD
ANP32B	Q92688	p.Lys137Thr	rs1302544606	missense variant	-	NC_000009.12:g.98005046A>C	gnomAD
ANP32B	Q92688	p.Leu138His	rs761932651	missense variant	-	NC_000009.12:g.98005049T>A	ExAC,gnomAD
ANP32B	Q92688	p.Leu139Pro	COSM1103079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.98005052T>C	NCI-TCGA Cosmic
ANP32B	Q92688	p.Gln141Arg	rs1418539448	missense variant	-	NC_000009.12:g.98005058A>G	TOPMed
ANP32B	Q92688	p.Leu142Phe	rs770020996	missense variant	-	NC_000009.12:g.98005060C>T	ExAC,gnomAD
ANP32B	Q92688	p.Thr143Ile	rs374883415	missense variant	-	NC_000009.12:g.98005064C>T	ESP,ExAC,gnomAD
ANP32B	Q92688	p.Tyr144Cys	COSM3902467	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.98005067A>G	NCI-TCGA Cosmic
ANP32B	Q92688	p.Gly147Ser	rs1283264647	missense variant	-	NC_000009.12:g.98005075G>A	gnomAD
ANP32B	Q92688	p.Tyr148Phe	rs1448292635	missense variant	-	NC_000009.12:g.98005079A>T	gnomAD
ANP32B	Q92688	p.Asp149Glu	rs1046534844	missense variant	-	NC_000009.12:g.98005083C>G	TOPMed
ANP32B	Q92688	p.Arg150Gln	rs149318680	missense variant	-	NC_000009.12:g.98005085G>A	ESP,ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Gln153Leu	COSM1103080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.98005094A>T	NCI-TCGA Cosmic
ANP32B	Q92688	p.Pro156Ala	rs759833673	missense variant	-	NC_000009.12:g.98005102C>G	ExAC,gnomAD
ANP32B	Q92688	p.Pro156Ser	rs759833673	missense variant	-	NC_000009.12:g.98005102C>T	ExAC,gnomAD
ANP32B	Q92688	p.Ala160Val	rs1156850890	missense variant	-	NC_000009.12:g.98005115C>T	gnomAD
ANP32B	Q92688	p.Ala160Thr	rs201273635	missense variant	-	NC_000009.12:g.98005114G>A	1000Genomes
ANP32B	Q92688	p.Glu161Lys	rs1251083232	missense variant	-	NC_000009.12:g.98005117G>A	TOPMed
ANP32B	Q92688	p.Val162Glu	rs1325404711	missense variant	-	NC_000009.12:g.98005121T>A	gnomAD
ANP32B	Q92688	p.Asp163Gly	rs1401408342	missense variant	-	NC_000009.12:g.98005124A>G	gnomAD
ANP32B	Q92688	p.Val165Met	rs753476000	missense variant	-	NC_000009.12:g.98005129G>A	ExAC,gnomAD
ANP32B	Q92688	p.Asp166Gly	rs756969084	missense variant	-	NC_000009.12:g.98005133A>G	ExAC,gnomAD
ANP32B	Q92688	p.Glu167Asp	rs1232087697	missense variant	-	NC_000009.12:g.98005137A>C	TOPMed
ANP32B	Q92688	p.Glu170Asp	rs745616807	missense variant	-	NC_000009.12:g.98005146G>C	ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Asp171His	rs1445206658	missense variant	-	NC_000009.12:g.98005147G>C	gnomAD
ANP32B	Q92688	p.Gly174Arg	rs1481491470	missense variant	-	NC_000009.12:g.98011273G>A	gnomAD
ANP32B	Q92688	p.Gly174Val	rs1200375028	missense variant	-	NC_000009.12:g.98011274G>T	gnomAD
ANP32B	Q92688	p.Gly174LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.98005153_98005154insAA	NCI-TCGA
ANP32B	Q92688	p.Glu175Asp	rs1423224178	missense variant	-	NC_000009.12:g.98011278A>T	gnomAD
ANP32B	Q92688	p.Asp176Gly	rs1464349905	missense variant	-	NC_000009.12:g.98011280A>G	gnomAD
ANP32B	Q92688	p.Glu177Val	rs1316585223	missense variant	-	NC_000009.12:g.98011283A>T	TOPMed,gnomAD
ANP32B	Q92688	p.Asp179Gly	rs1340831822	missense variant	-	NC_000009.12:g.98011289A>G	TOPMed
ANP32B	Q92688	p.Asp179Asn	rs1023323281	missense variant	-	NC_000009.12:g.98011288G>A	TOPMed
ANP32B	Q92688	p.Glu180Lys	rs1397753391	missense variant	-	NC_000009.12:g.98011291G>A	gnomAD
ANP32B	Q92688	p.Asp182Asn	rs1363146642	missense variant	-	NC_000009.12:g.98011297G>A	gnomAD
ANP32B	Q92688	p.Asp182Glu	rs1406283932	missense variant	-	NC_000009.12:g.98011299T>G	TOPMed,gnomAD
ANP32B	Q92688	p.Asp184Asn	rs1283480300	missense variant	-	NC_000009.12:g.98011303G>A	gnomAD
ANP32B	Q92688	p.Glu189Ala	rs1339906176	missense variant	-	NC_000009.12:g.98011319A>C	gnomAD
ANP32B	Q92688	p.Asp191Val	rs1223355183	missense variant	-	NC_000009.12:g.98011325A>T	gnomAD
ANP32B	Q92688	p.Glu192Asp	rs781295072	missense variant	-	NC_000009.12:g.98011329A>T	ExAC,gnomAD
ANP32B	Q92688	p.Glu193Gly	rs554324727	missense variant	-	NC_000009.12:g.98011331A>G	1000Genomes,ExAC,gnomAD
ANP32B	Q92688	p.Glu193Asp	rs1000014447	missense variant	-	NC_000009.12:g.98011332A>T	TOPMed
ANP32B	Q92688	p.Asp194Glu	rs770948925	missense variant	-	NC_000009.12:g.98011335T>A	ExAC
ANP32B	Q92688	p.Glu196Asp	rs1472704292	missense variant	-	NC_000009.12:g.98011341A>T	gnomAD
ANP32B	Q92688	p.Asp197Val	rs1206430307	missense variant	-	NC_000009.12:g.98011343A>T	gnomAD
ANP32B	Q92688	p.Asp199Val	rs1474420460	missense variant	-	NC_000009.12:g.98011349A>T	TOPMed
ANP32B	Q92688	p.Val200Ile	NCI-TCGA novel	missense variant	-	NC_000009.12:g.98011351G>A	NCI-TCGA
ANP32B	Q92688	p.Gly202Arg	rs774602963	missense variant	-	NC_000009.12:g.98011357G>A	ExAC,gnomAD
ANP32B	Q92688	p.Asp203His	rs746127276	missense variant	-	NC_000009.12:g.98011360G>C	ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Glu204AlaGlyIleLysTer	NCI-TCGA novel	stop gained	-	NC_000009.12:g.98011363_98011364insCAGGAATAAAAT	NCI-TCGA
ANP32B	Q92688	p.Asp205Glu	rs147068709	missense variant	-	NC_000009.12:g.98011368C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ANP32B	Q92688	p.Asp205Asn	rs1359422504	missense variant	-	NC_000009.12:g.98011366G>A	gnomAD
ANP32B	Q92688	p.Asp206Asn	rs1319941915	missense variant	-	NC_000009.12:g.98011369G>A	TOPMed,gnomAD
ANP32B	Q92688	p.Asp206Asn	rs1319941915	missense variant	-	NC_000009.12:g.98011369G>A	NCI-TCGA Cosmic
ANP32B	Q92688	p.Asp207Tyr	rs761031783	missense variant	-	NC_000009.12:g.98011372G>T	ExAC,gnomAD
ANP32B	Q92688	p.Asp207Asn	rs761031783	missense variant	-	NC_000009.12:g.98011372G>A	ExAC,gnomAD
ANP32B	Q92688	p.Asp207Asn	rs761031783	missense variant	-	NC_000009.12:g.98011372G>A	NCI-TCGA,NCI-TCGA Cosmic
ANP32B	Q92688	p.Glu208Gly	COSM5130751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.98011376A>G	NCI-TCGA Cosmic
ANP32B	Q92688	p.Val209Gly	rs761343165	missense variant	-	NC_000009.12:g.98011379T>G	ExAC,gnomAD
ANP32B	Q92688	p.Val209Ile	rs370631624	missense variant	-	NC_000009.12:g.98011378G>A	ESP,ExAC,gnomAD
ANP32B	Q92688	p.Glu211Gln	rs1330930663	missense variant	-	NC_000009.12:g.98011384G>C	TOPMed
ANP32B	Q92688	p.Glu211Ter	rs1330930663	stop gained	-	NC_000009.12:g.98011384G>T	TOPMed
ANP32B	Q92688	p.Glu211Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.98011384G>A	NCI-TCGA
ANP32B	Q92688	p.Glu215Gln	rs1384813255	missense variant	-	NC_000009.12:g.98012427G>C	gnomAD
ANP32B	Q92688	p.Glu215Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.98012427G>A	NCI-TCGA
ANP32B	Q92688	p.Phe216Cys	rs769036871	missense variant	-	NC_000009.12:g.98012431T>G	ExAC,gnomAD
ANP32B	Q92688	p.Gly217Ala	rs777088502	missense variant	-	NC_000009.12:g.98012434G>C	ExAC,gnomAD
ANP32B	Q92688	p.Asp219Glu	rs769329548	missense variant	-	NC_000009.12:g.98012441T>A	ExAC
ANP32B	Q92688	p.Asp219Gly	rs762271758	missense variant	-	NC_000009.12:g.98012440A>G	ExAC,gnomAD
ANP32B	Q92688	p.Asp222Gly	rs1344592227	missense variant	-	NC_000009.12:g.98012449A>G	TOPMed,gnomAD
ANP32B	Q92688	p.Asp222Glu	rs1202090461	missense variant	-	NC_000009.12:g.98012450T>A	gnomAD
ANP32B	Q92688	p.Asp222Val	rs1344592227	missense variant	-	NC_000009.12:g.98012449A>T	TOPMed,gnomAD
ANP32B	Q92688	p.Asp224Glu	rs1245351372	missense variant	-	NC_000009.12:g.98012456T>A	gnomAD
ANP32B	Q92688	p.Glu225Lys	rs772534076	missense variant	-	NC_000009.12:g.98012457G>A	ExAC,gnomAD
ANP32B	Q92688	p.Glu225Asp	rs3900080	missense variant	-	NC_000009.12:g.98012459G>C	ExAC,gnomAD
ANP32B	Q92688	p.Asp228Gly	rs769811711	missense variant	-	NC_000009.12:g.98012467A>G	ExAC,gnomAD
ANP32B	Q92688	p.Asp228Asn	rs1247883639	missense variant	-	NC_000009.12:g.98012466G>A	TOPMed
ANP32B	Q92688	p.Glu230Lys	rs987139	missense variant	-	NC_000009.12:g.98012472G>A	TOPMed
ANP32B	Q92688	p.Glu230Asp	rs1196801497	missense variant	-	NC_000009.12:g.98015365G>T	gnomAD
ANP32B	Q92688	p.Glu231Lys	rs1431018280	missense variant	-	NC_000009.12:g.98015366G>A	gnomAD
ANP32B	Q92688	p.Glu231Asp	rs1335613382	missense variant	-	NC_000009.12:g.98015368G>C	TOPMed
ANP32B	Q92688	p.Glu233Gln	COSM4832286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.98015372G>C	NCI-TCGA Cosmic
ANP32B	Q92688	p.Gly234Ser	rs796129328	missense variant	-	NC_000009.12:g.98015375G>A	gnomAD
ANP32B	Q92688	p.Gly235Arg	rs796924529	missense variant	-	NC_000009.12:g.98015378G>A	gnomAD
ANP32B	Q92688	p.Gly237Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.98015384G>T	NCI-TCGA
ANP32B	Q92688	p.Arg242Lys	rs1389054833	missense variant	-	NC_000009.12:g.98015400G>A	TOPMed
ANP32B	Q92688	p.Thr244Arg	rs1169708902	missense variant	-	NC_000009.12:g.98015406C>G	gnomAD
ANP32B	Q92688	p.Asp245His	rs1352619278	missense variant	-	NC_000009.12:g.98015408G>C	gnomAD
ANP32B	Q92688	p.Asp245Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.98015408G>T	NCI-TCGA
ANP32B	Q92688	p.Gly248Arg	rs1367645400	missense variant	-	NC_000009.12:g.98015417G>A	TOPMed
ANP32B	Q92688	p.Glu249Asp	rs1463455065	missense variant	-	NC_000009.12:g.98015422A>T	gnomAD
ANP32B	Q92688	p.Asp250Asn	rs76167314	missense variant	-	NC_000009.12:g.98015423G>A	gnomAD
ANP32B	Q92688	p.Asp251Glu	rs112073824	missense variant	-	NC_000009.12:g.98015428T>G	TOPMed,gnomAD
ANP32B	Q92688	p.Asp251Glu	rs112073824	missense variant	-	NC_000009.12:g.98015428T>A	TOPMed,gnomAD
ANP32B	Q92688	p.Asp251Glu	rs112073824	missense variant	-	NC_000009.12:g.98015428T>G	NCI-TCGA
NECTIN2	Q92692	p.Arg3Gln	rs533232752	missense variant	-	NC_000019.10:g.44846533G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala4Thr	rs540348164	missense variant	-	NC_000019.10:g.44846535G>A	1000Genomes
NECTIN2	Q92692	p.Leu7Phe	rs1475196168	missense variant	-	NC_000019.10:g.44846544C>T	gnomAD
NECTIN2	Q92692	p.Pro9Leu	rs1468614650	missense variant	-	NC_000019.10:g.44846551C>T	gnomAD
NECTIN2	Q92692	p.Ser10Trp	rs1406524004	missense variant	-	NC_000019.10:g.44846554C>G	TOPMed
NECTIN2	Q92692	p.Arg11Ser	rs1158215839	missense variant	-	NC_000019.10:g.44846558A>T	gnomAD
NECTIN2	Q92692	p.Ser12Leu	rs1257557221	missense variant	-	NC_000019.10:g.44846560C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Pro13Leu	rs955455303	missense variant	-	NC_000019.10:g.44846563C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Pro13Ser	rs1385887873	missense variant	-	NC_000019.10:g.44846562C>T	gnomAD
NECTIN2	Q92692	p.Pro14Arg	rs1374588086	missense variant	-	NC_000019.10:g.44846566C>G	gnomAD
NECTIN2	Q92692	p.Thr15Met	rs1441933758	missense variant	-	NC_000019.10:g.44846569C>T	TOPMed
NECTIN2	Q92692	p.Pro16Ser	rs1415398186	missense variant	-	NC_000019.10:g.44846571C>T	gnomAD
NECTIN2	Q92692	p.Pro16Leu	rs1314758857	missense variant	-	NC_000019.10:g.44846572C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Leu18Pro	rs759358139	missense variant	-	NC_000019.10:g.44846578T>C	ExAC,gnomAD
NECTIN2	Q92692	p.Trp19Ter	rs1237629832	stop gained	-	NC_000019.10:g.44846582G>A	gnomAD
NECTIN2	Q92692	p.Pro20Ser	rs1008256019	missense variant	-	NC_000019.10:g.44846583C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Leu21Pro	rs1355347393	missense variant	-	NC_000019.10:g.44846587T>C	gnomAD
NECTIN2	Q92692	p.Leu25Pro	rs767615519	missense variant	-	NC_000019.10:g.44846599T>C	ExAC,gnomAD
NECTIN2	Q92692	p.Thr29Ser	rs961487602	missense variant	-	NC_000019.10:g.44846611C>G	gnomAD
NECTIN2	Q92692	p.Thr29Ile	rs961487602	missense variant	-	NC_000019.10:g.44846611C>T	gnomAD
NECTIN2	Q92692	p.Gly30Ala	rs1192150081	missense variant	-	NC_000019.10:g.44865271G>C	TOPMed
NECTIN2	Q92692	p.Gly30Arg	rs560090685	missense variant	-	NC_000019.10:g.44846613G>A	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Ala31Thr	rs938872586	missense variant	-	NC_000019.10:g.44865273G>A	TOPMed
NECTIN2	Q92692	p.Val34Met	rs1401860288	missense variant	-	NC_000019.10:g.44865282G>A	gnomAD
NECTIN2	Q92692	p.Arg35Gln	rs770078525	missense variant	-	NC_000019.10:g.44865286G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg35Gly	rs1324839040	missense variant	-	NC_000019.10:g.44865285C>G	gnomAD
NECTIN2	Q92692	p.Val36Ile	rs1303909613	missense variant	-	NC_000019.10:g.44865288G>A	gnomAD
NECTIN2	Q92692	p.Pro40Ser	rs759446364	missense variant	-	NC_000019.10:g.44865300C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro40Thr	rs759446364	missense variant	-	NC_000019.10:g.44865300C>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Glu41Lys	rs369841554	missense variant	-	NC_000019.10:g.44865303G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Glu41Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44865304A>G	NCI-TCGA
NECTIN2	Q92692	p.Val42Leu	rs536775165	missense variant	-	NC_000019.10:g.44865306G>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val42Met	rs536775165	missense variant	-	NC_000019.10:g.44865306G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val42Ala	rs1488957967	missense variant	-	NC_000019.10:g.44865307T>C	TOPMed,gnomAD
NECTIN2	Q92692	p.Arg43Gln	rs553307679	missense variant	-	NC_000019.10:g.44865310G>A	NCI-TCGA
NECTIN2	Q92692	p.Arg43Gly	rs1365743374	missense variant	-	NC_000019.10:g.44865309C>G	TOPMed
NECTIN2	Q92692	p.Arg43Gln	rs553307679	missense variant	-	NC_000019.10:g.44865310G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gly44Cys	rs1428273498	missense variant	-	NC_000019.10:g.44865312G>T	TOPMed
NECTIN2	Q92692	p.Gln45Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.44865315C>T	NCI-TCGA
NECTIN2	Q92692	p.Leu46Val	COSM1481210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44865318C>G	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Gly47Arg	rs199754326	missense variant	-	NC_000019.10:g.44865321G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gly48Cys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44865324G>T	NCI-TCGA
NECTIN2	Q92692	p.Thr49Ile	rs1349919506	missense variant	-	NC_000019.10:g.44865328C>T	gnomAD
NECTIN2	Q92692	p.Val50Met	rs373335144	missense variant	-	NC_000019.10:g.44865330G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val50Met	rs373335144	missense variant	-	NC_000019.10:g.44865330G>A	NCI-TCGA,NCI-TCGA Cosmic
NECTIN2	Q92692	p.Pro53Leu	rs568050132	missense variant	-	NC_000019.10:g.44865340C>T	gnomAD
NECTIN2	Q92692	p.His55Arg	rs748310923	missense variant	-	NC_000019.10:g.44865346A>G	ExAC,gnomAD
NECTIN2	Q92692	p.Leu56Met	rs1391225360	missense variant	-	NC_000019.10:g.44865348C>A	TOPMed
NECTIN2	Q92692	p.Leu57Arg	rs934724419	missense variant	-	NC_000019.10:g.44865352T>G	TOPMed,gnomAD
NECTIN2	Q92692	p.Pro59Thr	rs769733604	missense variant	-	NC_000019.10:g.44865357C>A	ExAC,gnomAD
NECTIN2	Q92692	p.Gly62Glu	rs749511472	missense variant	-	NC_000019.10:g.44865367G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Tyr64His	rs1259115042	missense variant	-	NC_000019.10:g.44865372T>C	gnomAD
NECTIN2	Q92692	p.Val68Leu	COSM3535777	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44865384G>C	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Thr69Ile	rs1217007165	missense variant	-	NC_000019.10:g.44865388C>T	gnomAD
NECTIN2	Q92692	p.Thr69Ile	rs1217007165	missense variant	-	NC_000019.10:g.44865388C>T	NCI-TCGA
NECTIN2	Q92692	p.Arg72Cys	rs771223830	missense variant	-	NC_000019.10:g.44865396C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg72His	rs775452756	missense variant	-	NC_000019.10:g.44865397G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg72Leu	rs775452756	missense variant	-	NC_000019.10:g.44865397G>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg72His	rs775452756	missense variant	-	NC_000019.10:g.44865397G>A	NCI-TCGA,NCI-TCGA Cosmic
NECTIN2	Q92692	p.Pro73Arg	rs764138184	missense variant	-	NC_000019.10:g.44865400C>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala75Thr	rs1156502347	missense variant	-	NC_000019.10:g.44865405G>A	gnomAD
NECTIN2	Q92692	p.Pro76Ala	rs146855511	missense variant	-	NC_000019.10:g.44865408C>G	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala77Val	rs111808500	missense variant	-	NC_000019.10:g.44865412C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala77Ser	rs1419509852	missense variant	-	NC_000019.10:g.44865411G>T	gnomAD
NECTIN2	Q92692	p.Ala77Val	rs111808500	missense variant	-	NC_000019.10:g.44865412C>T	NCI-TCGA,NCI-TCGA Cosmic
NECTIN2	Q92692	p.Asn78Ser	rs1413547367	missense variant	-	NC_000019.10:g.44865415A>G	TOPMed,gnomAD
NECTIN2	Q92692	p.His79Leu	rs189675289	missense variant	-	NC_000019.10:g.44865418A>T	1000Genomes
NECTIN2	Q92692	p.His79Gln	rs764637662	missense variant	-	NC_000019.10:g.44865419C>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gln80Lys	rs1380002373	missense variant	-	NC_000019.10:g.44865420C>A	gnomAD
NECTIN2	Q92692	p.Gln80Glu	rs1380002373	missense variant	-	NC_000019.10:g.44865420C>G	gnomAD
NECTIN2	Q92692	p.Val82Met	rs749877073	missense variant	-	NC_000019.10:g.44865426G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Ala84Thr	rs765976897	missense variant	-	NC_000019.10:g.44865432G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala84Thr	rs765976897	missense variant	-	NC_000019.10:g.44865432G>A	NCI-TCGA
NECTIN2	Q92692	p.Met89Val	rs755277563	missense variant	-	NC_000019.10:g.44865447A>G	ExAC,gnomAD
NECTIN2	Q92692	p.Gly90Asp	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44865451G>A	NCI-TCGA
NECTIN2	Q92692	p.Pro91Ser	rs1287973473	missense variant	-	NC_000019.10:g.44865453C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Pro91Ala	rs1287973473	missense variant	-	NC_000019.10:g.44865453C>G	TOPMed,gnomAD
NECTIN2	Q92692	p.Pro94Ser	rs750364859	missense variant	-	NC_000019.10:g.44865462C>T	NCI-TCGA
NECTIN2	Q92692	p.Pro94Ser	rs750364859	missense variant	-	NC_000019.10:g.44865462C>T	-
NECTIN2	Q92692	p.Pro96Leu	rs773762080	missense variant	-	NC_000019.10:g.44865469C>T	NCI-TCGA
NECTIN2	Q92692	p.Pro96Leu	rs773762080	missense variant	-	NC_000019.10:g.44865469C>T	ExAC,gnomAD
NECTIN2	Q92692	p.Ser100Arg	rs771297349	missense variant	-	NC_000019.10:g.44865482C>G	ExAC,gnomAD
NECTIN2	Q92692	p.Ser100Gly	rs749337040	missense variant	-	NC_000019.10:g.44865480A>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Glu101Lys	rs200611066	missense variant	-	NC_000019.10:g.44865483G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg102Gln	rs746859514	missense variant	-	NC_000019.10:g.44865487G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Ser104Ala	rs1382615952	missense variant	-	NC_000019.10:g.44865492T>G	gnomAD
NECTIN2	Q92692	p.Val106Ala	rs1360199301	missense variant	-	NC_000019.10:g.44865499T>C	gnomAD
NECTIN2	Q92692	p.Val106Ile	rs761668689	missense variant	-	NC_000019.10:g.44865498G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala108Thr	rs769652813	missense variant	-	NC_000019.10:g.44865504G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Thr112Ser	rs1483357501	missense variant	-	NC_000019.10:g.44865517C>G	TOPMed
NECTIN2	Q92692	p.Thr112Ala	rs1296561237	missense variant	-	NC_000019.10:g.44865516A>G	gnomAD
NECTIN2	Q92692	p.Gly113Glu	rs1232163371	missense variant	-	NC_000019.10:g.44865520G>A	TOPMed
NECTIN2	Q92692	p.Ala118Gly	rs772739948	missense variant	-	NC_000019.10:g.44865535C>G	ExAC,gnomAD
NECTIN2	Q92692	p.Gln121Ter	rs766070719	stop gained	-	NC_000019.10:g.44865543C>T	ExAC,gnomAD
NECTIN2	Q92692	p.Asp122Tyr	rs1313932363	missense variant	-	NC_000019.10:g.44865546G>T	gnomAD
NECTIN2	Q92692	p.Ala123Thr	COSM3535781	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44865549G>A	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Thr124Met	rs545950313	missense variant	-	NC_000019.10:g.44865553C>T	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Ala126Pro	rs371523	missense variant	-	NC_000019.10:g.44865558G>C	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Ala126Thr	rs371523	missense variant	-	NC_000019.10:g.44865558G>A	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Ala126Gly	rs1250684336	missense variant	-	NC_000019.10:g.44865559C>G	gnomAD
NECTIN2	Q92692	p.Ala126Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44865558G>T	NCI-TCGA
NECTIN2	Q92692	p.Gly129Arg	rs753051882	missense variant	-	NC_000019.10:g.44865567G>C	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gly129Glu	rs971464182	missense variant	-	NC_000019.10:g.44865568G>A	gnomAD
NECTIN2	Q92692	p.Gly129Arg	rs753051882	missense variant	-	NC_000019.10:g.44865567G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr131Lys	rs778371949	missense variant	-	NC_000019.10:g.44865574C>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr131Arg	rs778371949	missense variant	-	NC_000019.10:g.44865574C>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr131Met	rs778371949	missense variant	-	NC_000019.10:g.44865574C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr131Ala	rs754291150	missense variant	-	NC_000019.10:g.44865573A>G	TOPMed,gnomAD
NECTIN2	Q92692	p.Glu133Lys	rs779342862	missense variant	-	NC_000019.10:g.44865579G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Asp134Asn	rs1392500163	missense variant	-	NC_000019.10:g.44865582G>A	TOPMed
NECTIN2	Q92692	p.Glu135Asp	rs1275265389	missense variant	-	NC_000019.10:g.44865587G>C	TOPMed,gnomAD
NECTIN2	Q92692	p.Glu135Lys	rs1472924166	missense variant	-	NC_000019.10:g.44865585G>A	TOPMed
NECTIN2	Q92692	p.Glu141Lys	rs755458598	missense variant	-	NC_000019.10:g.44865603G>A	TOPMed,gnomAD
NECTIN2	Q92692	p.Ser149Pro	rs1270702063	missense variant	-	NC_000019.10:g.44865627T>C	gnomAD
NECTIN2	Q92692	p.Ser149Phe	COSM3535783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44865628C>T	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Val150Ile	rs1199121316	missense variant	-	NC_000019.10:g.44865630G>A	gnomAD
NECTIN2	Q92692	p.Arg151Ter	rs1247714186	stop gained	-	NC_000019.10:g.44865633C>T	gnomAD
NECTIN2	Q92692	p.Arg151Gln	rs1479176655	missense variant	-	NC_000019.10:g.44865634G>A	TOPMed,gnomAD
NECTIN2	Q92692	p.Thr154Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44865642A>G	NCI-TCGA
NECTIN2	Q92692	p.Arg157Gly	rs769746436	missense variant	-	NC_000019.10:g.44865651A>G	ExAC,gnomAD
NECTIN2	Q92692	p.Ala160Val	rs1324596592	missense variant	-	NC_000019.10:g.44871853C>T	gnomAD
NECTIN2	Q92692	p.Ala160Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44865660G>T	NCI-TCGA
NECTIN2	Q92692	p.Lys161Asn	rs1238936866	missense variant	-	NC_000019.10:g.44871857G>C	TOPMed,gnomAD
NECTIN2	Q92692	p.Asn164Ile	rs1285886655	missense variant	-	NC_000019.10:g.44871865A>T	TOPMed
NECTIN2	Q92692	p.Gln165Leu	rs745347659	missense variant	-	NC_000019.10:g.44871868A>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gln169Glu	rs1339676779	missense variant	-	NC_000019.10:g.44871879C>G	TOPMed
NECTIN2	Q92692	p.Lys170Asn	rs771668072	missense variant	-	NC_000019.10:g.44871884G>C	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr172Met	rs566602071	missense variant	-	NC_000019.10:g.44871889C>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr172Arg	rs566602071	missense variant	-	NC_000019.10:g.44871889C>G	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ser174Gly	rs1441950542	missense variant	-	NC_000019.10:g.44871894A>G	gnomAD
NECTIN2	Q92692	p.Gln175Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.44871897C>T	NCI-TCGA
NECTIN2	Q92692	p.Asp176His	rs146534542	missense variant	-	NC_000019.10:g.44871900G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro177Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44871904C>T	NCI-TCGA
NECTIN2	Q92692	p.Thr178Met	rs41290104	missense variant	-	NC_000019.10:g.44871907C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr178Lys	rs41290104	missense variant	-	NC_000019.10:g.44871907C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr178Arg	rs41290104	missense variant	-	NC_000019.10:g.44871907C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala181Ser	rs1380699582	missense variant	-	NC_000019.10:g.44871915G>T	gnomAD
NECTIN2	Q92692	p.Cys183Ter	NCI-TCGA novel	stop gained	-	NC_000019.10:g.44871923C>A	NCI-TCGA
NECTIN2	Q92692	p.Lys186Glu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44871930A>G	NCI-TCGA
NECTIN2	Q92692	p.Arg189Leu	rs777560306	missense variant	-	NC_000019.10:g.44871940G>T	ExAC,gnomAD
NECTIN2	Q92692	p.Arg189His	rs777560306	missense variant	-	NC_000019.10:g.44871940G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Arg189Cys	rs755963650	missense variant	-	NC_000019.10:g.44871939C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro190Leu	rs967923006	missense variant	-	NC_000019.10:g.44871943C>T	TOPMed
NECTIN2	Q92692	p.Arg193Leu	rs368183799	missense variant	-	NC_000019.10:g.44871952G>T	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg193Gln	rs368183799	missense variant	-	NC_000019.10:g.44871952G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg193Trp	rs375673662	missense variant	-	NC_000019.10:g.44871951C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ile194Met	rs1354878051	missense variant	-	NC_000019.10:g.44871956C>G	gnomAD
NECTIN2	Q92692	p.Ser195Phe	COSM4390793	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44871958C>T	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Leu200Met	rs1336463102	missense variant	-	NC_000019.10:g.44871972C>A	gnomAD
NECTIN2	Q92692	p.Glu203Lys	rs556933455	missense variant	-	NC_000019.10:g.44871981G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr207Ser	rs771603522	missense variant	-	NC_000019.10:g.44871994C>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gln208His	rs775061127	missense variant	-	NC_000019.10:g.44871998G>T	ExAC,gnomAD
NECTIN2	Q92692	p.Thr212Ser	rs746671135	missense variant	-	NC_000019.10:g.44872008A>T	ExAC,gnomAD
NECTIN2	Q92692	p.Thr212Ala	rs746671135	missense variant	-	NC_000019.10:g.44872008A>G	ExAC,gnomAD
NECTIN2	Q92692	p.Leu213Met	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44872011C>A	NCI-TCGA
NECTIN2	Q92692	p.Gly215Arg	rs762229036	missense variant	-	NC_000019.10:g.44872017G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Thr216Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44872020A>T	NCI-TCGA
NECTIN2	Q92692	p.Thr218Ile	rs143273446	missense variant	-	NC_000019.10:g.44872027C>T	ESP,TOPMed,gnomAD
NECTIN2	Q92692	p.Ser221Ile	COSM5990672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44872036G>T	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Arg222Cys	rs148321526	missense variant	-	NC_000019.10:g.44872038C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg222His	rs773746451	missense variant	-	NC_000019.10:g.44872039G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Leu225Phe	rs1206466974	missense variant	-	NC_000019.10:g.44872049G>C	gnomAD
NECTIN2	Q92692	p.Ser228Leu	rs141485124	missense variant	-	NC_000019.10:g.44872057C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ser228Trp	rs141485124	missense variant	-	NC_000019.10:g.44872057C>G	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ser228Ala	rs1233393837	missense variant	-	NC_000019.10:g.44872056T>G	gnomAD
NECTIN2	Q92692	p.Gly229Ala	rs1407564891	missense variant	-	NC_000019.10:g.44872060G>C	TOPMed
NECTIN2	Q92692	p.Arg230Gln	rs201181667	missense variant	-	NC_000019.10:g.44872063G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg230Ter	rs1331661238	stop gained	-	NC_000019.10:g.44872062C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Arg230Gly	rs1331661238	missense variant	-	NC_000019.10:g.44872062C>G	TOPMed,gnomAD
NECTIN2	Q92692	p.Ala231Thr	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44872065G>A	NCI-TCGA
NECTIN2	Q92692	p.Asp232Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44872069A>G	NCI-TCGA
NECTIN2	Q92692	p.Val234Ile	rs1438236068	missense variant	-	NC_000019.10:g.44872074G>A	gnomAD
NECTIN2	Q92692	p.Val234Ala	rs980389291	missense variant	-	NC_000019.10:g.44872075T>C	TOPMed
NECTIN2	Q92692	p.Thr235Met	rs146983303	missense variant	-	NC_000019.10:g.44872078C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Lys239Glu	COSM3535785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44872089A>G	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Glu241Asp	rs1158732439	missense variant	-	NC_000019.10:g.44872097G>C	TOPMed
NECTIN2	Q92692	p.Glu241Lys	rs1413109177	missense variant	-	NC_000019.10:g.44872095G>A	TOPMed
NECTIN2	Q92692	p.Ser244Asn	rs1258212776	missense variant	-	NC_000019.10:g.44872105G>A	gnomAD
NECTIN2	Q92692	p.Glu246Lys	rs138153191	missense variant	-	NC_000019.10:g.44872110G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Glu246Gln	rs138153191	missense variant	-	NC_000019.10:g.44872110G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val253Leu	rs1164086382	missense variant	-	NC_000019.10:g.44872131G>T	gnomAD
NECTIN2	Q92692	p.Ser256Cys	COSM1304760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44872141C>G	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Val257Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44872144T>C	NCI-TCGA
NECTIN2	Q92692	p.Arg258Ser	rs768454344	missense variant	-	NC_000019.10:g.44872146C>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg258Leu	rs748572069	missense variant	-	NC_000019.10:g.44872147G>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg258His	rs748572069	missense variant	-	NC_000019.10:g.44872147G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg258Cys	rs768454344	missense variant	-	NC_000019.10:g.44872146C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Tyr259Phe	rs774804740	missense variant	-	NC_000019.10:g.44873916A>T	ExAC,gnomAD
NECTIN2	Q92692	p.Tyr259His	rs773657977	missense variant	-	NC_000019.10:g.44872149T>C	ExAC,gnomAD
NECTIN2	Q92692	p.Pro261Ser	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44873921C>T	NCI-TCGA
NECTIN2	Q92692	p.Ser266Phe	rs1299283019	missense variant	-	NC_000019.10:g.44873937C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Ser266Ala	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44873936T>G	NCI-TCGA
NECTIN2	Q92692	p.Gly267Ser	rs775484098	missense variant	-	NC_000019.10:g.44873939G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Asp270Asn	rs1322607339	missense variant	-	NC_000019.10:g.44873948G>A	gnomAD
NECTIN2	Q92692	p.Gly275Arg	rs773091984	missense variant	-	NC_000019.10:g.44873963G>C	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gly275Ser	rs773091984	missense variant	-	NC_000019.10:g.44873963G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg276His	rs766468871	missense variant	-	NC_000019.10:g.44873967G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg276Cys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44873966C>T	NCI-TCGA
NECTIN2	Q92692	p.Thr277Ile	rs1265193837	missense variant	-	NC_000019.10:g.44873970C>T	gnomAD
NECTIN2	Q92692	p.Asp278Val	rs1350904164	missense variant	-	NC_000019.10:g.44873973A>T	TOPMed
NECTIN2	Q92692	p.Thr280Ile	rs1180823563	missense variant	-	NC_000019.10:g.44873979C>T	gnomAD
NECTIN2	Q92692	p.Ser282Asn	rs754602199	missense variant	-	NC_000019.10:g.44873985G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Ser282Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44873985G>T	NCI-TCGA
NECTIN2	Q92692	p.Val285Ile	rs752088661	missense variant	-	NC_000019.10:g.44873993G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg286Cys	rs1159818423	missense variant	-	NC_000019.10:g.44873996C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Arg286His	rs149575863	missense variant	-	NC_000019.10:g.44873997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ser287Asn	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44874000G>A	NCI-TCGA
NECTIN2	Q92692	p.Pro289Thr	rs1321960045	missense variant	-	NC_000019.10:g.44874005C>A	TOPMed
NECTIN2	Q92692	p.Thr292Met	rs1029585936	missense variant	-	NC_000019.10:g.44874015C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Gly293Val	rs777248215	missense variant	-	NC_000019.10:g.44874018G>T	ExAC,gnomAD
NECTIN2	Q92692	p.Gly293Asp	rs777248215	missense variant	-	NC_000019.10:g.44874018G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Asp295Asn	rs757608722	missense variant	-	NC_000019.10:g.44874023G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Ser297Ile	rs569076872	missense variant	-	NC_000019.10:g.44874030G>T	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Ser297Arg	rs1249666029	missense variant	-	NC_000019.10:g.44874029A>C	TOPMed,gnomAD
NECTIN2	Q92692	p.Thr298Met	rs147220114	missense variant	-	NC_000019.10:g.44874033C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ser300Leu	rs756840122	missense variant	-	NC_000019.10:g.44874335C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr302Ala	rs746185511	missense variant	-	NC_000019.10:g.44874340A>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr302Ile	COSM5030000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44874341C>T	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Phe303Leu	COSM3823389	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44874345C>A	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Pro304Leu	rs545003891	missense variant	-	NC_000019.10:g.44874347C>T	ExAC,gnomAD
NECTIN2	Q92692	p.Thr305Asn	rs180859792	missense variant	-	NC_000019.10:g.44874350C>A	1000Genomes,ExAC
NECTIN2	Q92692	p.Ala307Thr	rs748385939	missense variant	-	NC_000019.10:g.44874355G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val308Met	rs770083015	missense variant	-	NC_000019.10:g.44874358G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val308Leu	rs770083015	missense variant	-	NC_000019.10:g.44874358G>C	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val315Ile	rs373607741	missense variant	-	NC_000019.10:g.44874379G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Val315Leu	rs373607741	missense variant	-	NC_000019.10:g.44874379G>C	ExAC,gnomAD
NECTIN2	Q92692	p.Ile316Val	rs760302847	missense variant	-	NC_000019.10:g.44874382A>G	ExAC,gnomAD
NECTIN2	Q92692	p.Ala318Val	rs1435447572	missense variant	-	NC_000019.10:g.44874389C>T	gnomAD
NECTIN2	Q92692	p.Ala318Thr	rs199763683	missense variant	-	NC_000019.10:g.44874388G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val319Ala	rs761478093	missense variant	-	NC_000019.10:g.44874392T>C	ExAC,gnomAD
NECTIN2	Q92692	p.Asp320Tyr	rs549210950	missense variant	-	NC_000019.10:g.44874394G>T	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Asp320Asn	rs549210950	missense variant	-	NC_000019.10:g.44874394G>A	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Ser321Gly	rs149249308	missense variant	-	NC_000019.10:g.44874397A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Leu322Val	rs1281332422	missense variant	-	NC_000019.10:g.44874400C>G	TOPMed
NECTIN2	Q92692	p.Phe323Leu	rs752004986	missense variant	-	NC_000019.10:g.44874405C>G	ExAC,gnomAD
NECTIN2	Q92692	p.Asn324Asp	rs1282385297	missense variant	-	NC_000019.10:g.44874406A>G	TOPMed,gnomAD
NECTIN2	Q92692	p.Val328Ile	rs748189641	missense variant	-	NC_000019.10:g.44874418G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val328Leu	rs748189641	missense variant	-	NC_000019.10:g.44874418G>C	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Cys329Tyr	COSM1153394	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44874422G>A	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Thr330Ile	rs770168981	missense variant	-	NC_000019.10:g.44874425C>T	ExAC,gnomAD
NECTIN2	Q92692	p.Val335Met	rs558633830	missense variant	-	NC_000019.10:g.44874439G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Met337Ile	rs1192110866	missense variant	-	NC_000019.10:g.44874447G>A	gnomAD
NECTIN2	Q92692	p.Arg339Ser	rs771747845	missense variant	-	NC_000019.10:g.44874451C>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg339His	rs775292300	missense variant	-	NC_000019.10:g.44874452G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg339Cys	rs771747845	missense variant	-	NC_000019.10:g.44874451C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala340Thr	rs760547048	missense variant	-	NC_000019.10:g.44874454G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Glu341Gln	rs537615455	missense variant	-	NC_000019.10:g.44874457G>C	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Gln342Lys	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44874460C>A	NCI-TCGA
NECTIN2	Q92692	p.Val343Ile	rs1367207417	missense variant	-	NC_000019.10:g.44874463G>A	gnomAD
NECTIN2	Q92692	p.Ile344Val	rs761283169	missense variant	-	NC_000019.10:g.44874466A>G	ExAC,gnomAD
NECTIN2	Q92692	p.Arg347Ter	rs1297446216	stop gained	-	NC_000019.10:g.44874475C>T	gnomAD
NECTIN2	Q92692	p.Arg347Gln	rs764920117	missense variant	-	NC_000019.10:g.44874476G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr349Pro	rs1404261792	missense variant	-	NC_000019.10:g.44882213A>C	gnomAD
NECTIN2	Q92692	p.Thr349Asn	rs1303627597	missense variant	-	NC_000019.10:g.44882214C>A	TOPMed,gnomAD
NECTIN2	Q92692	p.Gly354Ser	rs750006918	missense variant	-	NC_000019.10:g.44882228G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Ala355Ser	rs187706273	missense variant	-	NC_000019.10:g.44882231G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala355Thr	rs187706273	missense variant	-	NC_000019.10:g.44882231G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gly356Glu	rs1313349290	missense variant	-	NC_000019.10:g.44882235G>A	TOPMed
NECTIN2	Q92692	p.Gly359Asp	rs897853339	missense variant	-	NC_000019.10:g.44882244G>A	gnomAD
NECTIN2	Q92692	p.Gly359Ser	rs779920811	missense variant	-	NC_000019.10:g.44882243G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Gly360Ser	rs374154770	missense variant	-	NC_000019.10:g.44882246G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ile361Ser	rs781638330	missense variant	-	NC_000019.10:g.44882250T>G	ExAC,gnomAD
NECTIN2	Q92692	p.Gly363Arg	rs376327646	missense variant	-	NC_000019.10:g.44882255G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ile365Thr	rs1241581848	missense variant	-	NC_000019.10:g.44882262T>C	gnomAD
NECTIN2	Q92692	p.Ile366Met	rs773570140	missense variant	-	NC_000019.10:g.44882266C>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala367Thr	rs1188434646	missense variant	-	NC_000019.10:g.44882267G>A	TOPMed,gnomAD
NECTIN2	Q92692	p.Ala368Thr	rs371004925	missense variant	-	NC_000019.10:g.44882270G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ile370Thr	rs374589262	missense variant	-	NC_000019.10:g.44882277T>C	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala371Thr	rs759764650	missense variant	-	NC_000019.10:g.44882279G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Ala375Val	rs1417759969	missense variant	-	NC_000019.10:g.44882292C>T	gnomAD
NECTIN2	Q92692	p.Thr377Arg	rs540886913	missense variant	-	NC_000019.10:g.44882298C>G	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr377Met	rs540886913	missense variant	-	NC_000019.10:g.44882298C>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Leu380Pro	rs1432479665	missense variant	-	NC_000019.10:g.44882307T>C	gnomAD
NECTIN2	Q92692	p.Ile381Phe	rs1478682047	missense variant	-	NC_000019.10:g.44882309A>T	TOPMed
NECTIN2	Q92692	p.Cys382Tyr	rs1282018850	missense variant	-	NC_000019.10:g.44882313G>A	gnomAD
NECTIN2	Q92692	p.Arg383Trp	rs761494937	missense variant	-	NC_000019.10:g.44882315C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg383Gln	rs554767906	missense variant	-	NC_000019.10:g.44882316G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gln384Leu	rs1487127908	missense variant	-	NC_000019.10:g.44882319A>T	TOPMed
NECTIN2	Q92692	p.Gln385Ter	rs750383012	stop gained	-	NC_000019.10:g.44882321C>T	ExAC,gnomAD
NECTIN2	Q92692	p.Arg386Gly	rs368892165	missense variant	-	NC_000019.10:g.44882324C>G	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg386Gln	rs751066324	missense variant	-	NC_000019.10:g.44882325G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg386Trp	rs368892165	missense variant	-	NC_000019.10:g.44882324C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr390Met	rs539311376	missense variant	-	NC_000019.10:g.44882337C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Thr390Ala	rs1218238466	missense variant	-	NC_000019.10:g.44882336A>G	gnomAD
NECTIN2	Q92692	p.Gly393Arg	rs780676139	missense variant	-	NC_000019.10:g.44882345G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Glu395Gln	rs956376895	missense variant	-	NC_000019.10:g.44882351G>C	TOPMed
NECTIN2	Q92692	p.Glu395Gly	rs1386840641	missense variant	-	NC_000019.10:g.44882352A>G	gnomAD
NECTIN2	Q92692	p.Asp397Asn	rs1437759074	missense variant	-	NC_000019.10:g.44882357G>A	gnomAD
NECTIN2	Q92692	p.Glu398Lys	rs868353224	missense variant	-	NC_000019.10:g.44882360G>A	TOPMed,gnomAD
NECTIN2	Q92692	p.Asp399Glu	rs887862130	missense variant	-	NC_000019.10:g.44885937C>G	TOPMed
NECTIN2	Q92692	p.Asp399Ala	rs756420943	missense variant	-	NC_000019.10:g.44882364A>C	ExAC,gnomAD
NECTIN2	Q92692	p.Glu401Gln	rs1966960	missense variant	-	NC_000019.10:g.44885941G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Glu401Lys	rs1966960	missense variant	-	NC_000019.10:g.44885941G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gly402Arg	rs368726989	missense variant	-	NC_000019.10:g.44885944G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro403Thr	rs754151080	missense variant	-	NC_000019.10:g.44885947C>A	ExAC,gnomAD
NECTIN2	Q92692	p.Pro403Leu	rs757790349	missense variant	-	NC_000019.10:g.44885948C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro404Leu	rs571919329	missense variant	-	NC_000019.10:g.44885951C>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro404Ser	rs779374468	missense variant	-	NC_000019.10:g.44885950C>T	ExAC,gnomAD
NECTIN2	Q92692	p.Lys407SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000019.10:g.44885959A>-	NCI-TCGA
NECTIN2	Q92692	p.Pro408Thr	rs200070038	missense variant	-	NC_000019.10:g.44885962C>A	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Pro408Leu	rs747210117	missense variant	-	NC_000019.10:g.44885963C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro409Thr	rs1267571210	missense variant	-	NC_000019.10:g.44885965C>A	gnomAD
NECTIN2	Q92692	p.Pro409Leu	rs1388229065	missense variant	-	NC_000019.10:g.44885966C>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Pro411Arg	rs888979799	missense variant	-	NC_000019.10:g.44885972C>G	TOPMed,gnomAD
NECTIN2	Q92692	p.Pro411Ala	rs1178177959	missense variant	-	NC_000019.10:g.44885971C>G	gnomAD
NECTIN2	Q92692	p.Lys412Glu	rs773174479	missense variant	-	NC_000019.10:g.44885974A>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala413Val	rs762809930	missense variant	-	NC_000019.10:g.44885978C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala413Gly	rs762809930	missense variant	-	NC_000019.10:g.44885978C>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Met420Leu	rs1345005457	missense variant	-	NC_000019.10:g.44885998A>C	gnomAD
NECTIN2	Q92692	p.Pro421Ser	rs1278651004	missense variant	-	NC_000019.10:g.44886133C>T	gnomAD
NECTIN2	Q92692	p.Ser422Pro	rs1314079913	missense variant	-	NC_000019.10:g.44886136T>C	gnomAD
NECTIN2	Q92692	p.Ser422Phe	COSM3892847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44886137C>T	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Leu424Phe	rs1224619707	missense variant	-	NC_000019.10:g.44886142C>T	gnomAD
NECTIN2	Q92692	p.Leu424Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44886142C>A	NCI-TCGA
NECTIN2	Q92692	p.Leu427Pro	rs1213180229	missense variant	-	NC_000019.10:g.44886152T>C	TOPMed
NECTIN2	Q92692	p.Leu427Val	rs372483575	missense variant	-	NC_000019.10:g.44886151C>G	ESP,ExAC,gnomAD
NECTIN2	Q92692	p.Ala429Ser	rs761393507	missense variant	-	NC_000019.10:g.44886157G>T	ExAC,gnomAD
NECTIN2	Q92692	p.Ala429Thr	rs761393507	missense variant	-	NC_000019.10:g.44886157G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Ser430Leu	rs1023957228	missense variant	-	NC_000019.10:g.44886161C>T	TOPMed
NECTIN2	Q92692	p.Glu431Lys	rs766880329	missense variant	-	NC_000019.10:g.44886163G>A	ExAC
NECTIN2	Q92692	p.His432Gln	rs369292779	missense variant	-	NC_000019.10:g.44886168C>A	ESP,ExAC,gnomAD
NECTIN2	Q92692	p.Ser433Gly	rs1167455637	missense variant	-	NC_000019.10:g.44886169A>G	gnomAD
NECTIN2	Q92692	p.Ser433Arg	rs948262138	missense variant	-	NC_000019.10:g.44886171C>A	TOPMed,gnomAD
NECTIN2	Q92692	p.Ser433Asn	rs755094135	missense variant	-	NC_000019.10:g.44886170G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Leu435Val	rs781628582	missense variant	-	NC_000019.10:g.44886175C>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Tyr439Ter	rs756342561	stop gained	-	NC_000019.10:g.44886189C>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Tyr439Cys	rs748386034	missense variant	-	NC_000019.10:g.44886188A>G	ExAC,gnomAD
NECTIN2	Q92692	p.Phe440Ile	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44886190T>A	NCI-TCGA
NECTIN2	Q92692	p.Ala442Val	COSM3422921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44886197C>T	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Ala444Ser	rs533933961	missense variant	-	NC_000019.10:g.44886202G>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala444Thr	rs533933961	missense variant	-	NC_000019.10:g.44886202G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Thr447Ile	rs1239201070	missense variant	-	NC_000019.10:g.44886212C>T	gnomAD
NECTIN2	Q92692	p.Glu448Gln	rs933325464	missense variant	-	NC_000019.10:g.44886214G>C	TOPMed,gnomAD
NECTIN2	Q92692	p.Glu448Ter	rs933325464	stop gained	-	NC_000019.10:g.44886214G>T	TOPMed,gnomAD
NECTIN2	Q92692	p.Glu448Gly	rs562259475	missense variant	-	NC_000019.10:g.44886215A>G	1000Genomes,ExAC,gnomAD
NECTIN2	Q92692	p.Glu450Lys	rs1343133196	missense variant	-	NC_000019.10:g.44888110G>A	gnomAD
NECTIN2	Q92692	p.Glu450Ter	COSM4925522	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000019.10:g.44888110G>T	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Met451Arg	rs1403840551	missense variant	-	NC_000019.10:g.44888114T>G	gnomAD
NECTIN2	Q92692	p.Arg453Ter	rs1320280932	stop gained	-	NC_000019.10:g.44888119C>T	gnomAD
NECTIN2	Q92692	p.Arg453Gln	rs200219163	missense variant	-	NC_000019.10:g.44888120G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Tyr454Cys	rs1276887019	missense variant	-	NC_000019.10:g.44888123A>G	TOPMed
NECTIN2	Q92692	p.His455Gln	rs772905208	missense variant	-	NC_000019.10:g.44888127T>G	ExAC
NECTIN2	Q92692	p.His455Asn	rs1369356724	missense variant	-	NC_000019.10:g.44888125C>A	gnomAD
NECTIN2	Q92692	p.Glu456Gln	COSM1304762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44888128G>C	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Arg463Trp	rs371503602	missense variant	-	NC_000019.10:g.44888149C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg463Gln	rs377257667	missense variant	-	NC_000019.10:g.44888150G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg463Leu	rs377257667	missense variant	-	NC_000019.10:g.44888150G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gly465Arg	rs1489997481	missense variant	-	NC_000019.10:g.44888155G>A	gnomAD
NECTIN2	Q92692	p.Pro466Leu	rs768094330	missense variant	-	NC_000019.10:g.44888159C>T	ExAC,gnomAD
NECTIN2	Q92692	p.Pro466Ser	COSM4079225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44888158C>T	NCI-TCGA Cosmic
NECTIN2	Q92692	p.His468Tyr	rs541171835	missense variant	-	NC_000019.10:g.44888164C>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro469Thr	rs375345903	missense variant	-	NC_000019.10:g.44888167C>A	ESP,TOPMed
NECTIN2	Q92692	p.Ala471Thr	rs1399083620	missense variant	-	NC_000019.10:g.44888173G>A	TOPMed
NECTIN2	Q92692	p.Thr472Ile	rs368065414	missense variant	-	NC_000019.10:g.44888177C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro477Arg	rs779925487	missense variant	-	NC_000019.10:g.44888192C>G	ExAC,gnomAD
NECTIN2	Q92692	p.Pro479Ser	rs145654351	missense variant	-	NC_000019.10:g.44888197C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro479Leu	rs754949827	missense variant	-	NC_000019.10:g.44888198C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val480Ala	rs747716381	missense variant	-	NC_000019.10:g.44888201T>C	ExAC,gnomAD
NECTIN2	Q92692	p.Pro481His	rs769341513	missense variant	-	NC_000019.10:g.44888204C>A	ExAC,gnomAD
NECTIN2	Q92692	p.Pro481Leu	rs769341513	missense variant	-	NC_000019.10:g.44888204C>T	ExAC,gnomAD
NECTIN2	Q92692	p.Pro482Thr	rs777078945	missense variant	-	NC_000019.10:g.44888206C>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro482Ala	rs777078945	missense variant	-	NC_000019.10:g.44888206C>G	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro482Arg	rs1184421564	missense variant	-	NC_000019.10:g.44888207C>G	TOPMed
NECTIN2	Q92692	p.Pro485Ser	rs202150180	missense variant	-	NC_000019.10:g.44888215C>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Pro485Thr	rs202150180	missense variant	-	NC_000019.10:g.44888215C>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala486Pro	rs774883845	missense variant	-	NC_000019.10:g.44888218G>C	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ala486Val	rs1222318406	missense variant	-	NC_000019.10:g.44888219C>T	gnomAD
NECTIN2	Q92692	p.Ala486Thr	rs774883845	missense variant	-	NC_000019.10:g.44888218G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Asp489Glu	rs146573265	missense variant	-	NC_000019.10:g.44888229C>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Val490Ile	rs566257264	missense variant	-	NC_000019.10:g.44888230G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Asp496Asn	rs41290128	missense variant	-	NC_000019.10:g.44888248G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gly499Arg	rs753816043	missense variant	-	NC_000019.10:g.44888257G>C	ExAC,gnomAD
NECTIN2	Q92692	p.Glu500Lys	rs1415353897	missense variant	-	NC_000019.10:g.44888260G>A	gnomAD
NECTIN2	Q92692	p.Glu500Gly	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44888261A>G	NCI-TCGA
NECTIN2	Q92692	p.Glu501Gly	rs532803090	missense variant	-	NC_000019.10:g.44888264A>G	1000Genomes
NECTIN2	Q92692	p.Glu503Lys	rs762131356	missense variant	-	NC_000019.10:g.44888269G>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Asp507His	rs1436829022	missense variant	-	NC_000019.10:g.44888281G>C	gnomAD
NECTIN2	Q92692	p.Asp507Asn	rs1436829022	missense variant	-	NC_000019.10:g.44888281G>A	gnomAD
NECTIN2	Q92692	p.Asp507Gly	rs754756680	missense variant	-	NC_000019.10:g.44888282A>G	ExAC,gnomAD
NECTIN2	Q92692	p.Ile512Val	rs781170524	missense variant	-	NC_000019.10:g.44888296A>G	ExAC,gnomAD
NECTIN2	Q92692	p.Tyr513Cys	COSM1590147	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44888300A>G	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Asp514Gly	rs1359044152	missense variant	-	NC_000019.10:g.44888303A>G	gnomAD
NECTIN2	Q92692	p.Ala515Ser	rs777365254	missense variant	-	NC_000019.10:g.44888305G>T	ExAC,gnomAD
NECTIN2	Q92692	p.Tyr518Cys	rs372578036	missense variant	-	NC_000019.10:g.44888315A>G	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Tyr518Ser	rs372578036	missense variant	-	NC_000019.10:g.44888315A>C	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ser520Arg	rs778682885	missense variant	-	NC_000019.10:g.44888322C>A	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Ser524Phe	rs772571469	missense variant	-	NC_000019.10:g.44888333C>T	ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Gln526His	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44888340G>T	NCI-TCGA
NECTIN2	Q92692	p.Gly527Asp	rs775943080	missense variant	-	NC_000019.10:g.44888342G>A	ExAC,gnomAD
NECTIN2	Q92692	p.Lys528Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.44888345A>G	NCI-TCGA
NECTIN2	Q92692	p.Phe530Ser	COSM1136216	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.44888351T>C	NCI-TCGA Cosmic
NECTIN2	Q92692	p.Val531Ala	rs1407994800	missense variant	-	NC_000019.10:g.44888354T>C	gnomAD
NECTIN2	Q92692	p.Met532Val	rs1177017816	missense variant	-	NC_000019.10:g.44888356A>G	TOPMed
NECTIN2	Q92692	p.Met532Lys	rs1469937948	missense variant	-	NC_000019.10:g.44888357T>A	TOPMed
NECTIN2	Q92692	p.Arg534Gln	rs201595560	missense variant	-	NC_000019.10:g.44888363G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg534Pro	rs201595560	missense variant	-	NC_000019.10:g.44888363G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN2	Q92692	p.Arg534Trp	rs201399507	missense variant	-	NC_000019.10:g.44888362C>T	1000Genomes,ExAC
NECTIN2	Q92692	p.Met536Lys	rs765502215	missense variant	-	NC_000019.10:g.44888369T>A	ExAC,gnomAD
NECTIN2	Q92692	p.Val538Met	rs1449845709	missense variant	-	NC_000019.10:g.44888374G>A	TOPMed
JARID2	Q92833	p.Lys3Asn	rs749166741	missense variant	-	NC_000006.12:g.15246548G>C	ExAC,gnomAD
JARID2	Q92833	p.Glu4Gly	rs768586719	missense variant	-	NC_000006.12:g.15246550A>G	ExAC,gnomAD
JARID2	Q92833	p.Glu4Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15246549G>A	NCI-TCGA
JARID2	Q92833	p.Asn9Ser	rs142735464	missense variant	-	NC_000006.12:g.15246565A>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn9Thr	rs142735464	missense variant	-	NC_000006.12:g.15246565A>C	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ile11Leu	rs972003183	missense variant	-	NC_000006.12:g.15246570A>C	TOPMed
JARID2	Q92833	p.Gln12Arg	rs772152567	missense variant	-	NC_000006.12:g.15246574A>G	ExAC,gnomAD
JARID2	Q92833	p.Lys14Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15246580A>C	NCI-TCGA
JARID2	Q92833	p.Asp19Val	COSM3622136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15374127A>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Gly20Ala	rs1310690857	missense variant	-	NC_000006.12:g.15374130G>C	TOPMed
JARID2	Q92833	p.Ile21Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15374133T>G	NCI-TCGA
JARID2	Q92833	p.Pro22Leu	rs1225478355	missense variant	-	NC_000006.12:g.15374136C>T	TOPMed
JARID2	Q92833	p.Ser24Pro	rs1443231158	missense variant	-	NC_000006.12:g.15374141T>C	TOPMed,gnomAD
JARID2	Q92833	p.Ser24Thr	rs1443231158	missense variant	-	NC_000006.12:g.15374141T>A	TOPMed,gnomAD
JARID2	Q92833	p.Ser24Leu	COSM450756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15374142C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Glu25Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15374144G>A	NCI-TCGA
JARID2	Q92833	p.Arg27Trp	rs756409895	missense variant	-	NC_000006.12:g.15374150C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg27Gln	rs1444756292	missense variant	-	NC_000006.12:g.15374151G>A	TOPMed,gnomAD
JARID2	Q92833	p.Arg30Cys	rs1033019935	missense variant	-	NC_000006.12:g.15374159C>T	TOPMed
JARID2	Q92833	p.Arg30Leu	rs779332045	missense variant	-	NC_000006.12:g.15374160G>T	ExAC,gnomAD
JARID2	Q92833	p.Arg30His	rs779332045	missense variant	-	NC_000006.12:g.15374160G>A	ExAC,gnomAD
JARID2	Q92833	p.Phe40Leu	rs989074894	missense variant	-	NC_000006.12:g.15374191C>G	TOPMed
JARID2	Q92833	p.Ser43Phe	rs1410840291	missense variant	-	NC_000006.12:g.15374199C>T	TOPMed
JARID2	Q92833	p.Gln44Glu	rs1456926595	missense variant	-	NC_000006.12:g.15374201C>G	gnomAD
JARID2	Q92833	p.Gln47His	COSM1075190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15374212G>T	NCI-TCGA Cosmic
JARID2	Q92833	p.His48Arg	rs1179535963	missense variant	-	NC_000006.12:g.15374214A>G	TOPMed
JARID2	Q92833	p.His48Gln	rs1176454481	missense variant	-	NC_000006.12:g.15374215T>A	gnomAD
JARID2	Q92833	p.Ala49Val	rs759145033	missense variant	-	NC_000006.12:g.15374217C>T	ExAC,gnomAD
JARID2	Q92833	p.Glu50Asp	rs1470738311	missense variant	-	NC_000006.12:g.15374221A>C	gnomAD
JARID2	Q92833	p.Ala53Val	rs775332999	missense variant	-	NC_000006.12:g.15374229C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly54Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15374232G>A	NCI-TCGA
JARID2	Q92833	p.Ser55Arg	rs1463418380	missense variant	-	NC_000006.12:g.15374236C>A	gnomAD
JARID2	Q92833	p.Asn60His	rs1399739095	missense variant	-	NC_000006.12:g.15374249A>C	gnomAD
JARID2	Q92833	p.Leu62Phe	COSM3920933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15410226C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Leu63His	rs1241584136	missense variant	-	NC_000006.12:g.15410230T>A	TOPMed,gnomAD
JARID2	Q92833	p.Asn65Asp	rs1441810858	missense variant	-	NC_000006.12:g.15410235A>G	gnomAD
JARID2	Q92833	p.Gln67Pro	rs755635298	missense variant	-	NC_000006.12:g.15410242A>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly72Arg	rs768387247	missense variant	-	NC_000006.12:g.15410256G>A	ExAC,gnomAD
JARID2	Q92833	p.Ala74Pro	rs1468960218	missense variant	-	NC_000006.12:g.15410262G>C	gnomAD
JARID2	Q92833	p.Ala74Thr	rs1468960218	missense variant	-	NC_000006.12:g.15410262G>A	gnomAD
JARID2	Q92833	p.Ser75Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.15410266C>G	NCI-TCGA
JARID2	Q92833	p.Ser75Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15410266C>T	NCI-TCGA
JARID2	Q92833	p.Gln77His	rs748009945	missense variant	-	NC_000006.12:g.15410273G>C	ExAC,gnomAD
JARID2	Q92833	p.Glu79Asp	rs772108594	missense variant	-	NC_000006.12:g.15410279G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn80His	rs1160974104	missense variant	-	NC_000006.12:g.15410280A>C	gnomAD
JARID2	Q92833	p.Asn80Thr	rs773353152	missense variant	-	NC_000006.12:g.15410281A>C	ExAC
JARID2	Q92833	p.Asp83His	rs1323284246	missense variant	-	NC_000006.12:g.15410289G>C	TOPMed
JARID2	Q92833	p.Ala85Glu	rs1051449833	missense variant	-	NC_000006.12:g.15410296C>A	TOPMed
JARID2	Q92833	p.Val88Met	rs905702780	missense variant	-	NC_000006.12:g.15410304G>A	gnomAD
JARID2	Q92833	p.Ser90Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15410310T>C	NCI-TCGA
JARID2	Q92833	p.Asn93Thr	rs776801156	missense variant	-	NC_000006.12:g.15410320A>C	ExAC,gnomAD
JARID2	Q92833	p.Asp94Gly	rs1330310335	missense variant	-	NC_000006.12:g.15410323A>G	TOPMed,gnomAD
JARID2	Q92833	p.Asp94Asn	rs759623258	missense variant	-	NC_000006.12:g.15410322G>A	ExAC,gnomAD
JARID2	Q92833	p.Asp94His	COSM6173129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15410322G>C	NCI-TCGA Cosmic
JARID2	Q92833	p.Glu102Asp	rs1370674535	missense variant	-	NC_000006.12:g.15410348A>C	gnomAD
JARID2	Q92833	p.Ser105Pro	rs1175391265	missense variant	-	NC_000006.12:g.15410355T>C	TOPMed
JARID2	Q92833	p.Ser105Leu	rs1308076613	missense variant	-	NC_000006.12:g.15410356C>T	gnomAD
JARID2	Q92833	p.Leu111Pro	rs768119421	missense variant	-	NC_000006.12:g.15452014T>C	ExAC,gnomAD
JARID2	Q92833	p.Gln119Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15452038A>T	NCI-TCGA
JARID2	Q92833	p.Ser120Cys	rs1169792388	missense variant	-	NC_000006.12:g.15452041C>G	TOPMed
JARID2	Q92833	p.Gln121His	rs754586847	missense variant	-	NC_000006.12:g.15452045G>C	ExAC,gnomAD
JARID2	Q92833	p.Pro122Arg	rs770962845	missense variant	-	NC_000006.12:g.15452047C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro122Leu	rs770962845	missense variant	-	NC_000006.12:g.15452047C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn123His	rs777659807	missense variant	-	NC_000006.12:g.15452049A>C	ExAC,gnomAD
JARID2	Q92833	p.Ser126Ile	rs781257693	missense variant	-	NC_000006.12:g.15452059G>T	ExAC,gnomAD
JARID2	Q92833	p.Ser126Gly	rs770742297	missense variant	-	NC_000006.12:g.15452058A>G	ExAC,gnomAD
JARID2	Q92833	p.Thr127Arg	rs745920975	missense variant	-	NC_000006.12:g.15452062C>G	ExAC,gnomAD
JARID2	Q92833	p.Thr127Ile	COSM4832424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15452062C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Thr128Ile	rs769805788	missense variant	-	NC_000006.12:g.15452065C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr128Ser	rs769805788	missense variant	-	NC_000006.12:g.15452065C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val130Leu	rs1033523894	missense variant	-	NC_000006.12:g.15452070G>C	TOPMed,gnomAD
JARID2	Q92833	p.Ile132Thr	rs201810677	missense variant	-	NC_000006.12:g.15452077T>C	TOPMed,gnomAD
JARID2	Q92833	p.Val133Met	rs1267646313	missense variant	-	NC_000006.12:g.15452079G>A	TOPMed
JARID2	Q92833	p.Val133Ala	rs1399551386	missense variant	-	NC_000006.12:g.15452080T>C	TOPMed,gnomAD
JARID2	Q92833	p.Pro135Ala	rs763123477	missense variant	-	NC_000006.12:g.15452085C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro135Thr	rs763123477	missense variant	-	NC_000006.12:g.15452085C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro139Ala	rs774558475	missense variant	-	NC_000006.12:g.15452097C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro139Thr	rs774558475	missense variant	-	NC_000006.12:g.15452097C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro139His	rs762282628	missense variant	-	NC_000006.12:g.15452098C>A	ExAC,gnomAD
JARID2	Q92833	p.Pro139Ser	rs774558475	missense variant	-	NC_000006.12:g.15452097C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro139LeuPheSerTerUnkUnkUnk	COSM1642923	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15452094C>-	NCI-TCGA Cosmic
JARID2	Q92833	p.Gln143His	rs146235473	missense variant	-	NC_000006.12:g.15452111G>C	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser145Leu	rs1282106082	missense variant	-	NC_000006.12:g.15452116C>T	gnomAD
JARID2	Q92833	p.Leu147Phe	rs201685658	missense variant	-	NC_000006.12:g.15452121C>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser148Cys	rs1240260518	missense variant	-	NC_000006.12:g.15452125C>G	gnomAD
JARID2	Q92833	p.Lys149Glu	rs377723819	missense variant	-	NC_000006.12:g.15452127A>G	ESP,TOPMed,gnomAD
JARID2	Q92833	p.Lys149Gln	rs377723819	missense variant	-	NC_000006.12:g.15452127A>C	ESP,TOPMed,gnomAD
JARID2	Q92833	p.Lys151Asn	COSM6105815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15452135G>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Thr154Ile	COSM3777253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15452143C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Leu158Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15452154C>A	NCI-TCGA
JARID2	Q92833	p.Thr159Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15452157A>C	NCI-TCGA
JARID2	Q92833	p.Leu161Val	rs761102549	missense variant	-	NC_000006.12:g.15452163C>G	ExAC,gnomAD
JARID2	Q92833	p.Arg164Gln	rs1396135528	missense variant	-	NC_000006.12:g.15452173G>A	gnomAD
JARID2	Q92833	p.Arg164Ter	rs371399734	stop gained	-	NC_000006.12:g.15452172C>T	ESP,ExAC,gnomAD
JARID2	Q92833	p.Ser166Thr	rs1266236996	missense variant	-	NC_000006.12:g.15468544T>A	TOPMed
JARID2	Q92833	p.Pro167Ser	rs1401727572	missense variant	-	NC_000006.12:g.15468547C>T	gnomAD
JARID2	Q92833	p.Ala168Val	rs1164828046	missense variant	-	NC_000006.12:g.15468551C>T	gnomAD
JARID2	Q92833	p.Ala168Ser	COSM6105813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468550G>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Asn171Ser	rs1464865880	missense variant	-	NC_000006.12:g.15468560A>G	gnomAD
JARID2	Q92833	p.Asn171Asp	rs1290138725	missense variant	-	NC_000006.12:g.15468559A>G	TOPMed
JARID2	Q92833	p.Ser172Asn	rs1410294338	missense variant	-	NC_000006.12:g.15468563G>A	TOPMed
JARID2	Q92833	p.Ser172Arg	rs1334969891	missense variant	-	NC_000006.12:g.15468564C>G	TOPMed
JARID2	Q92833	p.Ser172Ile	COSM1075238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468563G>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Met173Ile	rs772426965	missense variant	-	NC_000006.12:g.15468567G>A	ExAC,gnomAD
JARID2	Q92833	p.Tyr175Cys	rs370641057	missense variant	-	NC_000006.12:g.15468572A>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Phe176Tyr	rs1441241038	missense variant	-	NC_000006.12:g.15468575T>A	TOPMed,gnomAD
JARID2	Q92833	p.Ser178Asn	rs572713175	missense variant	-	NC_000006.12:g.15468581G>A	1000Genomes,ExAC,gnomAD
JARID2	Q92833	p.Asp181Asn	rs752219216	missense variant	-	NC_000006.12:g.15468589G>A	ExAC,gnomAD
JARID2	Q92833	p.Glu182Gly	rs139309523	missense variant	-	NC_000006.12:g.15468593A>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu183Gln	rs145677498	missense variant	-	NC_000006.12:g.15468595G>C	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu183Val	rs756863900	missense variant	-	NC_000006.12:g.15468596A>T	ExAC,gnomAD
JARID2	Q92833	p.Glu183Ter	rs145677498	stop gained	-	NC_000006.12:g.15468595G>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu184Lys	COSM4850307	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468598G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Val185Ile	rs750210223	missense variant	-	NC_000006.12:g.15468601G>A	ExAC,gnomAD
JARID2	Q92833	p.Val185Phe	COSM1075239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468601G>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Glu186Lys	rs780008195	missense variant	-	NC_000006.12:g.15468604G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu186Gln	rs780008195	missense variant	-	NC_000006.12:g.15468604G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu187Ala	rs749368838	missense variant	-	NC_000006.12:g.15468608A>C	ExAC,gnomAD
JARID2	Q92833	p.Glu188Gln	rs374027190	missense variant	-	NC_000006.12:g.15468610G>C	ESP,ExAC,gnomAD
JARID2	Q92833	p.Asp189His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15468613G>C	NCI-TCGA
JARID2	Q92833	p.Asp190Glu	rs778875717	missense variant	-	NC_000006.12:g.15468618T>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu191Gln	rs376870539	missense variant	-	NC_000006.12:g.15468619G>C	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu191Lys	rs376870539	missense variant	-	NC_000006.12:g.15468619G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr192Ser	COSM4922419	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468622A>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Asp194Tyr	rs1332780131	missense variant	-	NC_000006.12:g.15468628G>T	TOPMed
JARID2	Q92833	p.Asp194Val	rs747413362	missense variant	-	NC_000006.12:g.15468629A>T	ExAC,gnomAD
JARID2	Q92833	p.Val195Ile	rs200497643	missense variant	-	NC_000006.12:g.15468631G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys196Gln	COSM4927628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468634A>C	NCI-TCGA Cosmic
JARID2	Q92833	p.Thr197Pro	rs760133490	missense variant	-	NC_000006.12:g.15468637A>C	ExAC
JARID2	Q92833	p.Thr199Ala	rs980717137	missense variant	-	NC_000006.12:g.15468643A>G	TOPMed
JARID2	Q92833	p.Asn200Ser	rs553690732	missense variant	-	NC_000006.12:g.15468647A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala202Val	rs1390247649	missense variant	-	NC_000006.12:g.15468653C>T	TOPMed
JARID2	Q92833	p.Ala202Ser	rs781498881	missense variant	-	NC_000006.12:g.15468652G>T	TOPMed
JARID2	Q92833	p.Ser203Leu	COSM3777254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468656C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Ser204Phe	rs750188402	missense variant	-	NC_000006.12:g.15468659C>T	ExAC,gnomAD
JARID2	Q92833	p.Ser208Leu	rs182974887	missense variant	-	NC_000006.12:g.15468671C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr209Asn	rs928811964	missense variant	-	NC_000006.12:g.15468674C>A	TOPMed,gnomAD
JARID2	Q92833	p.Pro210Ser	rs1483607607	missense variant	-	NC_000006.12:g.15468676C>T	gnomAD
JARID2	Q92833	p.Pro210Leu	rs1396008016	missense variant	-	NC_000006.12:g.15468677C>T	TOPMed
JARID2	Q92833	p.Pro210Thr	COSM3622168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15468676C>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Gly213Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15468686G>A	NCI-TCGA
JARID2	Q92833	p.Thr215Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15468691A>G	NCI-TCGA
JARID2	Q92833	p.His216Asn	rs145857477	missense variant	-	NC_000006.12:g.15468694C>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His216Gln	rs753721185	missense variant	-	NC_000006.12:g.15468696C>A	ExAC,gnomAD
JARID2	Q92833	p.His216Tyr	rs145857477	missense variant	-	NC_000006.12:g.15468694C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys217Arg	rs754916441	missense variant	-	NC_000006.12:g.15468698A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly222Arg	rs1446497684	missense variant	-	NC_000006.12:g.15468712G>A	TOPMed
JARID2	Q92833	p.His223Pro	rs1283195188	missense variant	-	NC_000006.12:g.15468716A>C	gnomAD
JARID2	Q92833	p.Asn226Ile	rs778012192	missense variant	-	NC_000006.12:g.15487313A>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn226Ser	rs778012192	missense variant	-	NC_000006.12:g.15487313A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly227Val	rs781648460	missense variant	-	NC_000006.12:g.15487316G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser228Phe	rs1206976241	missense variant	-	NC_000006.12:g.15487319C>T	gnomAD
JARID2	Q92833	p.Ser228Thr	rs1422853299	missense variant	-	NC_000006.12:g.15487318T>A	TOPMed
JARID2	Q92833	p.Ser229Asn	rs770303643	missense variant	-	NC_000006.12:g.15487322G>A	ExAC,gnomAD
JARID2	Q92833	p.Ser231Pro	rs1192037591	missense variant	-	NC_000006.12:g.15487327T>C	gnomAD
JARID2	Q92833	p.Thr232Ala	rs1255089024	missense variant	-	NC_000006.12:g.15487330A>G	TOPMed,gnomAD
JARID2	Q92833	p.Thr232Ile	rs780494402	missense variant	-	NC_000006.12:g.15487331C>T	ExAC,gnomAD
JARID2	Q92833	p.Arg233Trp	rs747681691	missense variant	-	NC_000006.12:g.15487333C>T	ExAC,gnomAD
JARID2	Q92833	p.Arg233Gln	rs556898531	missense variant	-	NC_000006.12:g.15487334G>A	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg233Gln	rs556898531	missense variant	-	NC_000006.12:g.15487334G>A	NCI-TCGA,NCI-TCGA Cosmic
JARID2	Q92833	p.Lys235Asn	rs1388806177	missense variant	-	NC_000006.12:g.15487341G>C	gnomAD
JARID2	Q92833	p.Pro237Arg	rs1323533165	missense variant	-	NC_000006.12:g.15487346C>G	TOPMed,gnomAD
JARID2	Q92833	p.Val238Leu	rs963966392	missense variant	-	NC_000006.12:g.15487348G>C	TOPMed
JARID2	Q92833	p.Gln239Pro	rs35990127	missense variant	-	NC_000006.12:g.15487352A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys240Ile	COSM6173116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15487355A>T	NCI-TCGA Cosmic
JARID2	Q92833	p.His241Gln	rs1019738276	missense variant	-	NC_000006.12:g.15487359C>G	gnomAD
JARID2	Q92833	p.His241Leu	rs1306668275	missense variant	-	NC_000006.12:g.15487358A>T	gnomAD
JARID2	Q92833	p.His241Arg	rs1306668275	missense variant	-	NC_000006.12:g.15487358A>G	gnomAD
JARID2	Q92833	p.Lys242Arg	rs900993770	missense variant	-	NC_000006.12:g.15487361A>G	TOPMed,gnomAD
JARID2	Q92833	p.Ala246Thr	COSM1075243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15487372G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Thr247Ala	rs770596635	missense variant	-	NC_000006.12:g.15487375A>G	ExAC,gnomAD
JARID2	Q92833	p.Pro248Leu	rs774068185	missense variant	-	NC_000006.12:g.15487379C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro248His	rs774068185	missense variant	-	NC_000006.12:g.15487379C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro248Leu	rs774068185	missense variant	-	NC_000006.12:g.15487379C>T	NCI-TCGA,NCI-TCGA Cosmic
JARID2	Q92833	p.Ala249Gly	rs558863604	missense variant	-	NC_000006.12:g.15487382C>G	1000Genomes,ExAC,gnomAD
JARID2	Q92833	p.Ala249Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15487382C>T	NCI-TCGA
JARID2	Q92833	p.Ala249Thr	rs1211851406	missense variant	-	NC_000006.12:g.15487381G>A	gnomAD
JARID2	Q92833	p.Ala249Thr	rs1211851406	missense variant	-	NC_000006.12:g.15487381G>A	NCI-TCGA
JARID2	Q92833	p.Asp255Asn	rs762951513	missense variant	-	NC_000006.12:g.15487399G>A	ExAC,gnomAD
JARID2	Q92833	p.Asp255Val	rs764227614	missense variant	-	NC_000006.12:g.15487400A>T	ExAC,gnomAD
JARID2	Q92833	p.His256Arg	rs945856683	missense variant	-	NC_000006.12:g.15487403A>G	TOPMed
JARID2	Q92833	p.His256ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15487403A>-	NCI-TCGA
JARID2	Q92833	p.His256Asp	rs751710718	missense variant	-	NC_000006.12:g.15487402C>G	ExAC,gnomAD
JARID2	Q92833	p.Arg257Gln	rs750797182	missense variant	-	NC_000006.12:g.15487406G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg257Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15487406G>C	NCI-TCGA
JARID2	Q92833	p.Arg257Trp	rs368404283	missense variant	-	NC_000006.12:g.15487405C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg257Trp	rs368404283	missense variant	-	NC_000006.12:g.15487405C>T	NCI-TCGA
JARID2	Q92833	p.Ala258Thr	rs1458153207	missense variant	-	NC_000006.12:g.15487408G>A	gnomAD
JARID2	Q92833	p.Ala258Val	rs756494750	missense variant	-	NC_000006.12:g.15487409C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asp259Gly	rs1369522282	missense variant	-	NC_000006.12:g.15487412A>G	TOPMed
JARID2	Q92833	p.Ser260Cys	rs780484411	missense variant	-	NC_000006.12:g.15487414A>T	ExAC,gnomAD
JARID2	Q92833	p.Arg261His	rs190493478	missense variant	-	NC_000006.12:g.15487418G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg261Ser	rs749694581	missense variant	-	NC_000006.12:g.15487417C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg261Cys	rs749694581	missense variant	-	NC_000006.12:g.15487417C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg262Trp	rs746559577	missense variant	-	NC_000006.12:g.15487420C>T	ExAC,gnomAD
JARID2	Q92833	p.Arg262Gln	rs761828289	missense variant	-	NC_000006.12:g.15487421G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg262Leu	rs761828289	missense variant	-	NC_000006.12:g.15487421G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg262Trp	rs746559577	missense variant	-	NC_000006.12:g.15487420C>T	NCI-TCGA
JARID2	Q92833	p.Glu263Ter	rs1322403563	stop gained	-	NC_000006.12:g.15487423G>T	gnomAD
JARID2	Q92833	p.Gln264Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15487427A>T	NCI-TCGA
JARID2	Q92833	p.Ala265Pro	rs768346575	missense variant	-	NC_000006.12:g.15487429G>C	TOPMed,gnomAD
JARID2	Q92833	p.Ala265Thr	rs768346575	missense variant	-	NC_000006.12:g.15487429G>A	TOPMed,gnomAD
JARID2	Q92833	p.Ser266Pro	rs776321013	missense variant	-	NC_000006.12:g.15487432T>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His269Tyr	rs769407485	missense variant	-	NC_000006.12:g.15487441C>T	ExAC,gnomAD
JARID2	Q92833	p.His269Asn	rs769407485	missense variant	-	NC_000006.12:g.15487441C>A	ExAC,gnomAD
JARID2	Q92833	p.Pro270Leu	rs375269082	missense variant	-	NC_000006.12:g.15487445C>T	ESP,ExAC,gnomAD
JARID2	Q92833	p.Ala271Thr	rs369809671	missense variant	-	NC_000006.12:g.15487447G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala272Val	rs1251378189	missense variant	-	NC_000006.12:g.15487451C>T	TOPMed
JARID2	Q92833	p.Thr276Met	rs762051404	missense variant	-	NC_000006.12:g.15487463C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr276Met	rs762051404	missense variant	-	NC_000006.12:g.15487463C>T	NCI-TCGA
JARID2	Q92833	p.Ser279Leu	rs376665598	missense variant	-	NC_000006.12:g.15487472C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala280Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15487475C>T	NCI-TCGA
JARID2	Q92833	p.Lys281Glu	rs1439905189	missense variant	-	NC_000006.12:g.15487477A>G	TOPMed
JARID2	Q92833	p.Gly282Glu	rs773985835	missense variant	-	NC_000006.12:g.15487481G>A	TOPMed,gnomAD
JARID2	Q92833	p.Leu283Val	rs756367323	missense variant	-	NC_000006.12:g.15487483C>G	ExAC,gnomAD
JARID2	Q92833	p.Leu283Phe	rs756367323	missense variant	-	NC_000006.12:g.15487483C>T	ExAC,gnomAD
JARID2	Q92833	p.Ala284Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15487487C>A	NCI-TCGA
JARID2	Q92833	p.Ala284Ser	rs929049349	missense variant	-	NC_000006.12:g.15487486G>T	gnomAD
JARID2	Q92833	p.Thr286Ile	rs200046051	missense variant	-	NC_000006.12:g.15487493C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His287Arg	rs369838113	missense variant	-	NC_000006.12:g.15487496A>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His287Tyr	rs755458993	missense variant	-	NC_000006.12:g.15487495C>T	ExAC,gnomAD
JARID2	Q92833	p.His288Arg	rs1275003205	missense variant	-	NC_000006.12:g.15487499A>G	gnomAD
JARID2	Q92833	p.His288Gln	rs746504663	missense variant	-	NC_000006.12:g.15487500C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro290Ser	rs201789074	missense variant	-	NC_000006.12:g.15487504C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro290Ala	rs201789074	missense variant	-	NC_000006.12:g.15487504C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro291His	rs761856984	missense variant	-	NC_000006.12:g.15487508C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro291Arg	rs761856984	missense variant	-	NC_000006.12:g.15487508C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro291Ala	rs755892589	missense variant	-	NC_000006.12:g.15487507C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro291Thr	rs755892589	missense variant	-	NC_000006.12:g.15487507C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro291LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15487503C>-	NCI-TCGA
JARID2	Q92833	p.Pro291Ser	rs755892589	missense variant	-	NC_000006.12:g.15487507C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His293Gln	rs1190801806	missense variant	-	NC_000006.12:g.15487515T>G	TOPMed
JARID2	Q92833	p.Arg294Gln	rs773374579	missense variant	-	NC_000006.12:g.15487517G>A	ExAC,gnomAD
JARID2	Q92833	p.Arg294Gln	rs773374579	missense variant	-	NC_000006.12:g.15487517G>A	NCI-TCGA
JARID2	Q92833	p.Ser295Leu	rs760762790	missense variant	-	NC_000006.12:g.15487520C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala296Ser	rs766675962	missense variant	-	NC_000006.12:g.15487522G>T	ExAC,gnomAD
JARID2	Q92833	p.Asp298Gly	rs1203485029	missense variant	-	NC_000006.12:g.15487529A>G	TOPMed
JARID2	Q92833	p.Arg300Gly	rs375479047	missense variant	-	NC_000006.12:g.15487534C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg300Trp	rs375479047	missense variant	-	NC_000006.12:g.15487534C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg300Gln	rs1360210107	missense variant	-	NC_000006.12:g.15487535G>A	TOPMed,gnomAD
JARID2	Q92833	p.Val303Phe	rs753477468	missense variant	-	NC_000006.12:g.15496132G>T	ExAC,gnomAD
JARID2	Q92833	p.Ser304Cys	rs1327619724	missense variant	-	NC_000006.12:g.15496136C>G	TOPMed
JARID2	Q92833	p.Gly308Arg	rs1441172648	missense variant	-	NC_000006.12:g.15496147G>A	gnomAD
JARID2	Q92833	p.Gly308Arg	rs1441172648	missense variant	-	NC_000006.12:g.15496147G>A	NCI-TCGA
JARID2	Q92833	p.Val309Ile	rs1306142295	missense variant	-	NC_000006.12:g.15496150G>A	gnomAD
JARID2	Q92833	p.Thr310Ile	rs1228491036	missense variant	-	NC_000006.12:g.15496154C>T	TOPMed,gnomAD
JARID2	Q92833	p.Thr310Ala	rs1352205655	missense variant	-	NC_000006.12:g.15496153A>G	TOPMed,gnomAD
JARID2	Q92833	p.Thr310Ser	rs1352205655	missense variant	-	NC_000006.12:g.15496153A>T	TOPMed,gnomAD
JARID2	Q92833	p.Thr310Ala	rs1352205655	missense variant	-	NC_000006.12:g.15496153A>G	NCI-TCGA
JARID2	Q92833	p.Thr310Ser	rs1228491036	missense variant	-	NC_000006.12:g.15496154C>G	TOPMed,gnomAD
JARID2	Q92833	p.Thr310Ile	rs1228491036	missense variant	-	NC_000006.12:g.15496154C>T	NCI-TCGA
JARID2	Q92833	p.Arg311Gly	rs911838647	missense variant	-	NC_000006.12:g.15496156C>G	TOPMed,gnomAD
JARID2	Q92833	p.Arg311Gln	rs1040870474	missense variant	-	NC_000006.12:g.15496157G>A	TOPMed,gnomAD
JARID2	Q92833	p.Arg311Leu	rs1040870474	missense variant	-	NC_000006.12:g.15496157G>T	TOPMed,gnomAD
JARID2	Q92833	p.Met312Thr	rs138993031	missense variant	-	NC_000006.12:g.15496160T>C	1000Genomes,TOPMed,gnomAD
JARID2	Q92833	p.Met312Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496161G>A	NCI-TCGA
JARID2	Q92833	p.Ser313Pro	rs1290104852	missense variant	-	NC_000006.12:g.15496162T>C	gnomAD
JARID2	Q92833	p.Ser314Pro	rs748009817	missense variant	-	NC_000006.12:g.15496165T>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser314Tyr	rs374542117	missense variant	-	NC_000006.12:g.15496166C>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser314Phe	rs374542117	missense variant	-	NC_000006.12:g.15496166C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Leu315Pro	rs1478512939	missense variant	-	NC_000006.12:g.15496169T>C	TOPMed
JARID2	Q92833	p.Gly316Asp	rs1483629072	missense variant	-	NC_000006.12:g.15496172G>A	gnomAD
JARID2	Q92833	p.Gly318Asp	rs1219568800	missense variant	-	NC_000006.12:g.15496178G>A	TOPMed
JARID2	Q92833	p.Gly318Arg	rs746930256	missense variant	-	NC_000006.12:g.15496177G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr320Asn	rs866661986	missense variant	-	NC_000006.12:g.15496184C>A	gnomAD
JARID2	Q92833	p.Ser321Gly	rs776720223	missense variant	-	NC_000006.12:g.15496186A>G	ExAC,gnomAD
JARID2	Q92833	p.Ala322Val	rs377617337	missense variant	-	NC_000006.12:g.15496190C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Met325Ile	rs1286770329	missense variant	-	NC_000006.12:g.15496200G>C	TOPMed
JARID2	Q92833	p.Arg326Leu	rs141622693	missense variant	-	NC_000006.12:g.15496202G>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg326His	rs141622693	missense variant	-	NC_000006.12:g.15496202G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg326Cys	rs148019312	missense variant	-	NC_000006.12:g.15496201C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu327Gly	rs1366548978	missense variant	-	NC_000006.12:g.15496205A>G	TOPMed
JARID2	Q92833	p.Glu327Lys	rs752048243	missense variant	-	NC_000006.12:g.15496204G>A	ExAC,gnomAD
JARID2	Q92833	p.Val328Ile	rs762232615	missense variant	-	NC_000006.12:g.15496207G>A	ExAC,gnomAD
JARID2	Q92833	p.Val328Phe	rs762232615	missense variant	-	NC_000006.12:g.15496207G>T	ExAC,gnomAD
JARID2	Q92833	p.Arg329Gly	rs1272720437	missense variant	-	NC_000006.12:g.15496210A>G	TOPMed
JARID2	Q92833	p.Pro332Ser	rs1410434468	missense variant	-	NC_000006.12:g.15496219C>T	TOPMed,gnomAD
JARID2	Q92833	p.Pro332Leu	rs1345292024	missense variant	-	NC_000006.12:g.15496220C>T	TOPMed
JARID2	Q92833	p.Ser333Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496223C>T	NCI-TCGA
JARID2	Q92833	p.Thr335Ala	rs1284445781	missense variant	-	NC_000006.12:g.15496228A>G	gnomAD
JARID2	Q92833	p.Thr335Ile	rs753422776	missense variant	-	NC_000006.12:g.15496229C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr335Ser	rs753422776	missense variant	-	NC_000006.12:g.15496229C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val336Met	rs778752172	missense variant	-	NC_000006.12:g.15496231G>A	ExAC,gnomAD
JARID2	Q92833	p.Val336Leu	rs778752172	missense variant	-	NC_000006.12:g.15496231G>C	ExAC,gnomAD
JARID2	Q92833	p.Ala340Val	rs1210856487	missense variant	-	NC_000006.12:g.15496244C>T	TOPMed,gnomAD
JARID2	Q92833	p.Ala340Val	rs1210856487	missense variant	-	NC_000006.12:g.15496244C>T	NCI-TCGA
JARID2	Q92833	p.Thr341Met	rs560504507	missense variant	-	NC_000006.12:g.15496247C>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr341Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496246A>G	NCI-TCGA
JARID2	Q92833	p.Val342Met	rs758149896	missense variant	-	NC_000006.12:g.15496249G>A	ExAC,gnomAD
JARID2	Q92833	p.Thr343Met	rs539847575	missense variant	-	NC_000006.12:g.15496253C>T	gnomAD
JARID2	Q92833	p.Thr343Ala	rs1415412278	missense variant	-	NC_000006.12:g.15496252A>G	TOPMed
JARID2	Q92833	p.Gly345Arg	rs1442773654	missense variant	-	NC_000006.12:g.15496258G>C	gnomAD
JARID2	Q92833	p.Gly345Ala	rs1474513395	missense variant	-	NC_000006.12:g.15496259G>C	gnomAD
JARID2	Q92833	p.Ala346Asp	COSM3859822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496262C>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Val347Ile	rs746921290	missense variant	-	NC_000006.12:g.15496264G>A	ExAC,gnomAD
JARID2	Q92833	p.Thr348Ile	rs770793526	missense variant	-	NC_000006.12:g.15496268C>T	ExAC,gnomAD
JARID2	Q92833	p.Thr350Asn	rs1476492388	missense variant	-	NC_000006.12:g.15496274C>A	TOPMed
JARID2	Q92833	p.Glu355Gly	rs1399915017	missense variant	-	NC_000006.12:g.15496289A>G	gnomAD
JARID2	Q92833	p.Glu355Lys	rs1172967249	missense variant	-	NC_000006.12:g.15496288G>A	gnomAD
JARID2	Q92833	p.Glu355Asp	rs1302207428	missense variant	-	NC_000006.12:g.15496290A>C	TOPMed,gnomAD
JARID2	Q92833	p.Glu355Gln	rs1172967249	missense variant	-	NC_000006.12:g.15496288G>C	gnomAD
JARID2	Q92833	p.Leu356Gln	rs999055511	missense variant	-	NC_000006.12:g.15496292T>A	gnomAD
JARID2	Q92833	p.Asp359Gly	rs769997586	missense variant	-	NC_000006.12:g.15496301A>G	ExAC,gnomAD
JARID2	Q92833	p.Asp359His	COSM3622171	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496300G>C	NCI-TCGA Cosmic
JARID2	Q92833	p.Lys361Arg	rs1035929001	missense variant	-	NC_000006.12:g.15496307A>G	gnomAD
JARID2	Q92833	p.Lys361Ile	rs1035929001	missense variant	-	NC_000006.12:g.15496307A>T	gnomAD
JARID2	Q92833	p.Pro362Ser	rs749486167	missense variant	-	NC_000006.12:g.15496309C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro362His	rs1233971799	missense variant	-	NC_000006.12:g.15496310C>A	TOPMed,gnomAD
JARID2	Q92833	p.Pro362Thr	rs749486167	missense variant	-	NC_000006.12:g.15496309C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn363Asp	rs1254789532	missense variant	-	NC_000006.12:g.15496312A>G	gnomAD
JARID2	Q92833	p.His365Gln	rs41267696	missense variant	-	NC_000006.12:g.15496320C>G	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro367Arg	COSM450777	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496325C>G	NCI-TCGA Cosmic
JARID2	Q92833	p.Ser368Cys	rs1283738793	missense variant	-	NC_000006.12:g.15496327A>T	TOPMed,gnomAD
JARID2	Q92833	p.Ser368Asn	rs774611765	missense variant	-	NC_000006.12:g.15496328G>A	ExAC,gnomAD
JARID2	Q92833	p.Ser368Arg	rs1283738793	missense variant	-	NC_000006.12:g.15496327A>C	TOPMed,gnomAD
JARID2	Q92833	p.Ser369Cys	rs1340722347	missense variant	-	NC_000006.12:g.15496331C>G	TOPMed
JARID2	Q92833	p.Ala370Thr	rs961851776	missense variant	-	NC_000006.12:g.15496333G>A	TOPMed,gnomAD
JARID2	Q92833	p.Ala370Ser	rs961851776	missense variant	-	NC_000006.12:g.15496333G>T	TOPMed,gnomAD
JARID2	Q92833	p.Ile375Thr	rs1192708995	missense variant	-	NC_000006.12:g.15496349T>C	gnomAD
JARID2	Q92833	p.Thr379Ile	rs759187745	missense variant	-	NC_000006.12:g.15496361C>T	ExAC,gnomAD
JARID2	Q92833	p.Ser382Arg	rs752327419	missense variant	-	NC_000006.12:g.15496371C>A	ExAC,gnomAD
JARID2	Q92833	p.Ser382Asn	rs1455158699	missense variant	-	NC_000006.12:g.15496370G>A	gnomAD
JARID2	Q92833	p.Asn383His	rs758014536	missense variant	-	NC_000006.12:g.15496372A>C	ExAC,gnomAD
JARID2	Q92833	p.Asn383Asp	rs758014536	missense variant	-	NC_000006.12:g.15496372A>G	ExAC,gnomAD
JARID2	Q92833	p.Asn383Ser	rs763898041	missense variant	-	NC_000006.12:g.15496373A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala384Gly	rs751358037	missense variant	-	NC_000006.12:g.15496376C>G	ExAC,gnomAD
JARID2	Q92833	p.Lys385Thr	rs757186436	missense variant	-	NC_000006.12:g.15496379A>C	ExAC,gnomAD
JARID2	Q92833	p.Lys385Asn	COSM483595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496380A>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Thr386Ser	rs781172302	missense variant	-	NC_000006.12:g.15496381A>T	ExAC,gnomAD
JARID2	Q92833	p.Arg387Cys	rs551551471	missense variant	-	NC_000006.12:g.15496384C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg387His	rs146276296	missense variant	-	NC_000006.12:g.15496385G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys388Gln	rs1269018625	missense variant	-	NC_000006.12:g.15496387A>C	gnomAD
JARID2	Q92833	p.Lys388Thr	rs1468150832	missense variant	-	NC_000006.12:g.15496388A>C	gnomAD
JARID2	Q92833	p.Val390Leu	rs1208280140	missense variant	-	NC_000006.12:g.15496393G>T	gnomAD
JARID2	Q92833	p.Leu391Pro	rs549333235	missense variant	-	NC_000006.12:g.15496397T>C	1000Genomes,ExAC,gnomAD
JARID2	Q92833	p.Ser392Cys	rs1199541052	missense variant	-	NC_000006.12:g.15496400C>G	gnomAD
JARID2	Q92833	p.Ser392Phe	COSM3622172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496400C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Gly394Glu	rs774758348	missense variant	-	NC_000006.12:g.15496406G>A	ExAC,gnomAD
JARID2	Q92833	p.Gly394Arg	rs768784464	missense variant	-	NC_000006.12:g.15496405G>A	ExAC,gnomAD
JARID2	Q92833	p.Gly394Ala	rs774758348	missense variant	-	NC_000006.12:g.15496406G>C	ExAC,gnomAD
JARID2	Q92833	p.Gly394Val	rs774758348	missense variant	-	NC_000006.12:g.15496406G>T	ExAC,gnomAD
JARID2	Q92833	p.Ala396Thr	rs1412263871	missense variant	-	NC_000006.12:g.15496411G>A	gnomAD
JARID2	Q92833	p.Ala396Val	rs773919057	missense variant	-	NC_000006.12:g.15496412C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala396GlyPheSerTerUnkUnk	rs778734711	frameshift	-	NC_000006.12:g.15496404_15496405insG	NCI-TCGA
JARID2	Q92833	p.Ala396ArgPheSerTerUnkUnk	COSM6028036	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15496405G>-	NCI-TCGA Cosmic
JARID2	Q92833	p.Lys398Thr	rs764796093	missense variant	-	NC_000006.12:g.15496418A>C	ExAC,gnomAD
JARID2	Q92833	p.Lys398Arg	rs764796093	missense variant	-	NC_000006.12:g.15496418A>G	ExAC,gnomAD
JARID2	Q92833	p.Ser399Pro	rs144274940	missense variant	-	NC_000006.12:g.15496420T>C	1000Genomes,ESP,TOPMed,gnomAD
JARID2	Q92833	p.Ser399Ala	rs144274940	missense variant	-	NC_000006.12:g.15496420T>G	1000Genomes,ESP,TOPMed,gnomAD
JARID2	Q92833	p.Gly401Arg	rs373768513	missense variant	-	NC_000006.12:g.15496426G>A	ESP,TOPMed
JARID2	Q92833	p.Ala403Thr	rs142358716	missense variant	-	NC_000006.12:g.15496432G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val404Phe	rs751363793	missense variant	-	NC_000006.12:g.15496435G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val404Ile	rs751363793	missense variant	-	NC_000006.12:g.15496435G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val404Leu	rs751363793	missense variant	-	NC_000006.12:g.15496435G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn405Ser	rs151240501	missense variant	-	NC_000006.12:g.15496439A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly406Ser	rs376486188	missense variant	-	NC_000006.12:g.15496441G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly411Cys	rs372286993	missense variant	-	NC_000006.12:g.15496456G>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly411Val	rs1251981998	missense variant	-	NC_000006.12:g.15496457G>T	gnomAD
JARID2	Q92833	p.Gly411Ser	rs372286993	missense variant	-	NC_000006.12:g.15496456G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn414Ile	rs780061509	missense variant	-	NC_000006.12:g.15496466A>T	ExAC,gnomAD
JARID2	Q92833	p.Pro415Arg	rs755198929	missense variant	-	NC_000006.12:g.15496469C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro415Leu	rs755198929	missense variant	-	NC_000006.12:g.15496469C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro415Thr	rs376615516	missense variant	-	NC_000006.12:g.15496468C>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser417Leu	COSM1311738	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496475C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Cys418Arg	rs202037781	missense variant	-	NC_000006.12:g.15496477T>C	1000Genomes,ExAC,gnomAD
JARID2	Q92833	p.Lys420Glu	rs748536010	missense variant	-	NC_000006.12:g.15496483A>G	ExAC,gnomAD
JARID2	Q92833	p.Lys420Arg	rs1043793690	missense variant	-	NC_000006.12:g.15496484A>G	TOPMed
JARID2	Q92833	p.Val422Met	rs903863527	missense variant	-	NC_000006.12:g.15496489G>A	TOPMed,gnomAD
JARID2	Q92833	p.Val422Leu	rs903863527	missense variant	-	NC_000006.12:g.15496489G>T	TOPMed,gnomAD
JARID2	Q92833	p.Val422Glu	rs867980083	missense variant	-	NC_000006.12:g.15496490T>A	TOPMed
JARID2	Q92833	p.Val422Gly	rs867980083	missense variant	-	NC_000006.12:g.15496490T>G	TOPMed
JARID2	Q92833	p.Gly423Ala	rs762435222	missense variant	-	NC_000006.12:g.15496493G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly423Arg	rs771612168	missense variant	-	NC_000006.12:g.15496492G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly423Trp	rs771612168	missense variant	-	NC_000006.12:g.15496492G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly423Glu	rs762435222	missense variant	-	NC_000006.12:g.15496493G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly423Arg	rs771612168	missense variant	-	NC_000006.12:g.15496492G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly424Trp	rs1273731136	missense variant	-	NC_000006.12:g.15496495G>T	gnomAD
JARID2	Q92833	p.Gly424Glu	rs768340245	missense variant	-	NC_000006.12:g.15496496G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly424Val	rs768340245	missense variant	-	NC_000006.12:g.15496496G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg425Gln	rs573872359	missense variant	-	NC_000006.12:g.15496499G>A	1000Genomes,TOPMed
JARID2	Q92833	p.Arg425Trp	rs773817512	missense variant	-	NC_000006.12:g.15496498C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg425GlyPheSerTerUnkUnk	COSM1239175	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15496491G>-	NCI-TCGA Cosmic
JARID2	Q92833	p.Gln426SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15496499G>-	NCI-TCGA
JARID2	Q92833	p.Arg428Trp	rs536409098	missense variant	-	NC_000006.12:g.15496507C>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg428Pro	rs767261258	missense variant	-	NC_000006.12:g.15496508G>C	ExAC,gnomAD
JARID2	Q92833	p.Arg428Gln	rs767261258	missense variant	-	NC_000006.12:g.15496508G>A	ExAC,gnomAD
JARID2	Q92833	p.Glu429Lys	rs760586123	missense variant	-	NC_000006.12:g.15496510G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu429Gly	rs556092630	missense variant	-	NC_000006.12:g.15496511A>G	1000Genomes
JARID2	Q92833	p.Leu431Arg	rs753950992	missense variant	-	NC_000006.12:g.15496517T>G	ExAC,gnomAD
JARID2	Q92833	p.Leu431Gln	rs753950992	missense variant	-	NC_000006.12:g.15496517T>A	ExAC,gnomAD
JARID2	Q92833	p.Arg434Trp	rs779068407	missense variant	-	NC_000006.12:g.15496525C>T	ExAC,gnomAD
JARID2	Q92833	p.Gly436Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496532G>T	NCI-TCGA
JARID2	Q92833	p.Arg438Trp	rs1271569797	missense variant	-	NC_000006.12:g.15496537C>T	TOPMed,gnomAD
JARID2	Q92833	p.Arg443Lys	rs1311463959	missense variant	-	NC_000006.12:g.15496553G>A	gnomAD
JARID2	Q92833	p.Leu444Pro	rs1207923027	missense variant	-	NC_000006.12:g.15496556T>C	gnomAD
JARID2	Q92833	p.Glu445Gly	rs1483275935	missense variant	-	NC_000006.12:g.15496559A>G	gnomAD
JARID2	Q92833	p.His448Arg	rs868306515	missense variant	-	NC_000006.12:g.15496568A>G	-
JARID2	Q92833	p.Ala450Val	rs771552957	missense variant	-	NC_000006.12:g.15496574C>T	ExAC,TOPMed
JARID2	Q92833	p.Glu451Gly	rs1189548443	missense variant	-	NC_000006.12:g.15496577A>G	gnomAD
JARID2	Q92833	p.Lys452Glu	rs746391660	missense variant	-	NC_000006.12:g.15496579A>G	ExAC,gnomAD
JARID2	Q92833	p.Lys452Asn	rs767993155	missense variant	-	NC_000006.12:g.15496581G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro453Gln	rs761413681	missense variant	-	NC_000006.12:g.15496583C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro453Ser	rs773934437	missense variant	-	NC_000006.12:g.15496582C>T	ExAC,gnomAD
JARID2	Q92833	p.Pro453Leu	rs761413681	missense variant	-	NC_000006.12:g.15496583C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gln454His	rs544346196	missense variant	-	NC_000006.12:g.15496587G>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser455Leu	rs760518769	missense variant	-	NC_000006.12:g.15496589C>T	ExAC,gnomAD
JARID2	Q92833	p.Pro456Ser	rs753647784	missense variant	-	NC_000006.12:g.15496591C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro456His	rs765195461	missense variant	-	NC_000006.12:g.15496592C>A	ExAC,gnomAD
JARID2	Q92833	p.Pro456Thr	rs753647784	missense variant	-	NC_000006.12:g.15496591C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro456Leu	rs765195461	missense variant	-	NC_000006.12:g.15496592C>T	ExAC,gnomAD
JARID2	Q92833	p.Pro457Arg	rs752867259	missense variant	-	NC_000006.12:g.15496595C>G	ExAC,gnomAD
JARID2	Q92833	p.Pro457His	rs752867259	missense variant	-	NC_000006.12:g.15496595C>A	ExAC,gnomAD
JARID2	Q92833	p.Lys459Asn	rs758673747	missense variant	-	NC_000006.12:g.15496602G>T	ExAC,gnomAD
JARID2	Q92833	p.Lys461Glu	COSM4930489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496606A>G	NCI-TCGA Cosmic
JARID2	Q92833	p.Ala463Val	rs751969709	missense variant	-	NC_000006.12:g.15496613C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala464Thr	rs1355010269	missense variant	-	NC_000006.12:g.15496615G>A	TOPMed
JARID2	Q92833	p.Pro466Ser	rs985734904	missense variant	-	NC_000006.12:g.15496621C>T	TOPMed,gnomAD
JARID2	Q92833	p.Pro466Ala	rs985734904	missense variant	-	NC_000006.12:g.15496621C>G	TOPMed,gnomAD
JARID2	Q92833	p.Pro466Leu	rs757498583	missense variant	-	NC_000006.12:g.15496622C>T	ExAC,gnomAD
JARID2	Q92833	p.Ala467Thr	rs201589895	missense variant	-	NC_000006.12:g.15496624G>A	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu468Lys	rs200762091	missense variant	-	NC_000006.12:g.15496627G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly469Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496631G>T	NCI-TCGA
JARID2	Q92833	p.Gly469Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496630G>T	NCI-TCGA
JARID2	Q92833	p.Pro470Leu	rs778254538	missense variant	-	NC_000006.12:g.15496634C>T	ExAC
JARID2	Q92833	p.Pro470Thr	rs1386381868	missense variant	-	NC_000006.12:g.15496633C>A	TOPMed
JARID2	Q92833	p.Gly471Ser	rs1414267703	missense variant	-	NC_000006.12:g.15496636G>A	gnomAD
JARID2	Q92833	p.Lys472Glu	rs540503361	missense variant	-	NC_000006.12:g.15496639A>G	1000Genomes
JARID2	Q92833	p.Ala474Ser	rs1365628678	missense variant	-	NC_000006.12:g.15496645G>T	TOPMed
JARID2	Q92833	p.Ala474Val	rs1323113015	missense variant	-	NC_000006.12:g.15496646C>T	gnomAD
JARID2	Q92833	p.Pro475Ser	rs1433977735	missense variant	-	NC_000006.12:g.15496648C>T	gnomAD
JARID2	Q92833	p.Pro475Leu	rs772912534	missense variant	-	NC_000006.12:g.15496649C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu477Gly	rs1330588899	missense variant	-	NC_000006.12:g.15496655A>G	TOPMed,gnomAD
JARID2	Q92833	p.Glu477Lys	rs759363568	missense variant	-	NC_000006.12:g.15496654G>A	ExAC,gnomAD
JARID2	Q92833	p.Glu477Gln	rs759363568	missense variant	-	NC_000006.12:g.15496654G>C	ExAC,gnomAD
JARID2	Q92833	p.Arg478Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496658G>A	NCI-TCGA
JARID2	Q92833	p.Gly479Cys	rs764274821	missense variant	-	NC_000006.12:g.15496660G>T	ExAC,gnomAD
JARID2	Q92833	p.Leu480Pro	rs1359265824	missense variant	-	NC_000006.12:g.15496664T>C	gnomAD
JARID2	Q92833	p.Asn482Lys	rs562946062	missense variant	-	NC_000006.12:g.15496671C>A	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn482Lys	rs562946062	missense variant	-	NC_000006.12:g.15496671C>G	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn482Ile	rs1482979378	missense variant	-	NC_000006.12:g.15496670A>T	gnomAD
JARID2	Q92833	p.Gly483Arg	rs780593636	missense variant	-	NC_000006.12:g.15496672G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly483Arg	rs780593636	missense variant	-	NC_000006.12:g.15496672G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His484Gln	rs147755173	missense variant	-	NC_000006.12:g.15496677C>G	ESP,ExAC,gnomAD
JARID2	Q92833	p.His484Arg	rs1193726679	missense variant	-	NC_000006.12:g.15496676A>G	TOPMed
JARID2	Q92833	p.His484Tyr	rs757833470	missense variant	-	NC_000006.12:g.15496675C>T	ExAC,gnomAD
JARID2	Q92833	p.Val485Met	rs746629156	missense variant	-	NC_000006.12:g.15496678G>A	ExAC,gnomAD
JARID2	Q92833	p.Lys486Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496682A>G	NCI-TCGA
JARID2	Q92833	p.Lys487Glu	rs142532617	missense variant	-	NC_000006.12:g.15496684A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu488Lys	rs1345467460	missense variant	-	NC_000006.12:g.15496687G>A	gnomAD
JARID2	Q92833	p.Val489Gly	rs899441253	missense variant	-	NC_000006.12:g.15496691T>G	gnomAD
JARID2	Q92833	p.Pro490Leu	rs199726755	missense variant	-	NC_000006.12:g.15496694C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro490Arg	rs199726755	missense variant	-	NC_000006.12:g.15496694C>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu491Asp	rs775503677	missense variant	-	NC_000006.12:g.15496698G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu491Lys	rs1351841609	missense variant	-	NC_000006.12:g.15496696G>A	TOPMed,gnomAD
JARID2	Q92833	p.Glu491Asp	rs775503677	missense variant	-	NC_000006.12:g.15496698G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg492His	rs35474598	missense variant	-	NC_000006.12:g.15496700G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg492Cys	rs150448457	missense variant	-	NC_000006.12:g.15496699C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu495Lys	rs1230397653	missense variant	-	NC_000006.12:g.15496708G>A	gnomAD
JARID2	Q92833	p.Glu495Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496708G>C	NCI-TCGA
JARID2	Q92833	p.Arg496Lys	rs774603953	missense variant	-	NC_000006.12:g.15496712G>A	ExAC,gnomAD
JARID2	Q92833	p.Asn497Ser	rs761909518	missense variant	-	NC_000006.12:g.15496715A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg498Leu	rs371985950	missense variant	-	NC_000006.12:g.15496718G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg498Gly	rs371504573	missense variant	-	NC_000006.12:g.15496717C>G	ExAC,gnomAD
JARID2	Q92833	p.Arg498Trp	rs371504573	missense variant	-	NC_000006.12:g.15496717C>T	ExAC,gnomAD
JARID2	Q92833	p.Arg498Gln	rs371985950	missense variant	-	NC_000006.12:g.15496718G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro499Arg	rs199694306	missense variant	-	NC_000006.12:g.15496721C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro499Leu	rs199694306	missense variant	-	NC_000006.12:g.15496721C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg501Gln	rs1473935768	missense variant	-	NC_000006.12:g.15496727G>A	TOPMed,gnomAD
JARID2	Q92833	p.Arg501Trp	rs755493741	missense variant	-	NC_000006.12:g.15496726C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg501Pro	rs1473935768	missense variant	-	NC_000006.12:g.15496727G>C	TOPMed,gnomAD
JARID2	Q92833	p.Arg501Leu	rs1473935768	missense variant	-	NC_000006.12:g.15496727G>T	TOPMed,gnomAD
JARID2	Q92833	p.Ala502Val	rs751134578	missense variant	-	NC_000006.12:g.15496730C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr503Met	rs145823203	missense variant	-	NC_000006.12:g.15496733C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala504Gly	rs964892202	missense variant	-	NC_000006.12:g.15496736C>G	gnomAD
JARID2	Q92833	p.Ala504Thr	rs780967141	missense variant	-	NC_000006.12:g.15496735G>A	ExAC,gnomAD
JARID2	Q92833	p.Gly505Arg	rs556846414	missense variant	-	NC_000006.12:g.15496738G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr508Met	rs368841624	missense variant	-	NC_000006.12:g.15496748C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr508Ser	rs1364960202	missense variant	-	NC_000006.12:g.15496747A>T	gnomAD
JARID2	Q92833	p.Thr508Arg	rs368841624	missense variant	-	NC_000006.12:g.15496748C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro509Ala	rs1340594714	missense variant	-	NC_000006.12:g.15496750C>G	gnomAD
JARID2	Q92833	p.Pro509Leu	rs1200381693	missense variant	-	NC_000006.12:g.15496751C>T	gnomAD
JARID2	Q92833	p.Gly510Asp	rs749198181	missense variant	-	NC_000006.12:g.15496754G>A	ExAC,gnomAD
JARID2	Q92833	p.Ala513Gly	rs768754068	missense variant	-	NC_000006.12:g.15496763C>G	ExAC,gnomAD
JARID2	Q92833	p.Ala513Val	rs768754068	missense variant	-	NC_000006.12:g.15496763C>T	ExAC,gnomAD
JARID2	Q92833	p.His514Gln	rs1260237835	missense variant	-	NC_000006.12:g.15496767T>G	TOPMed
JARID2	Q92833	p.Gly515Cys	rs567509795	missense variant	-	NC_000006.12:g.15496768G>T	1000Genomes,ExAC,gnomAD
JARID2	Q92833	p.Gly515Ser	rs567509795	missense variant	-	NC_000006.12:g.15496768G>A	1000Genomes,ExAC,gnomAD
JARID2	Q92833	p.Lys516Arg	rs1250844499	missense variant	-	NC_000006.12:g.15496772A>G	TOPMed,gnomAD
JARID2	Q92833	p.Ala517Val	rs762009475	missense variant	-	NC_000006.12:g.15496775C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala517Thr	rs1247600962	missense variant	-	NC_000006.12:g.15496774G>A	gnomAD
JARID2	Q92833	p.Asp518Val	rs149052289	missense variant	-	NC_000006.12:g.15496778A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asp518Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496778A>G	NCI-TCGA
JARID2	Q92833	p.Ser519Thr	rs760817551	missense variant	-	NC_000006.12:g.15496781G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser519Asn	rs760817551	missense variant	-	NC_000006.12:g.15496781G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser519Ile	rs760817551	missense variant	-	NC_000006.12:g.15496781G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala520Val	rs1415642129	missense variant	-	NC_000006.12:g.15496784C>T	gnomAD
JARID2	Q92833	p.Ala520Ser	rs200722144	missense variant	-	NC_000006.12:g.15496783G>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala520Thr	rs200722144	missense variant	-	NC_000006.12:g.15496783G>A	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser521Cys	rs866108564	missense variant	-	NC_000006.12:g.15496787C>G	-
JARID2	Q92833	p.Ser521Ala	rs756721673	missense variant	-	NC_000006.12:g.15496786T>G	ExAC,gnomAD
JARID2	Q92833	p.Cys522Gly	rs770567125	missense variant	-	NC_000006.12:g.15496789T>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Cys522Arg	rs770567125	missense variant	-	NC_000006.12:g.15496789T>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu523Lys	rs1327374697	missense variant	-	NC_000006.12:g.15496792G>A	gnomAD
JARID2	Q92833	p.Asn524Tyr	rs768171157	missense variant	-	NC_000006.12:g.15496795A>T	ExAC,gnomAD
JARID2	Q92833	p.Arg525Cys	rs373104387	missense variant	-	NC_000006.12:g.15496798C>T	ESP,ExAC,gnomAD
JARID2	Q92833	p.Arg525His	rs749143429	missense variant	-	NC_000006.12:g.15496799G>A	ExAC,gnomAD
JARID2	Q92833	p.Ser526Cys	rs778974432	missense variant	-	NC_000006.12:g.15496802C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser526Pro	rs768700724	missense variant	-	NC_000006.12:g.15496801T>C	ExAC,gnomAD
JARID2	Q92833	p.Thr527Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496805C>T	NCI-TCGA
JARID2	Q92833	p.Thr527Pro	rs748038024	missense variant	-	NC_000006.12:g.15496804A>C	ExAC,gnomAD
JARID2	Q92833	p.Ser528Leu	rs1210803593	missense variant	-	NC_000006.12:g.15496808C>T	gnomAD
JARID2	Q92833	p.Pro530Leu	rs369211390	missense variant	-	NC_000006.12:g.15496814C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser532Thr	rs776971778	missense variant	-	NC_000006.12:g.15496819T>A	ExAC,gnomAD
JARID2	Q92833	p.Ser532Pro	rs776971778	missense variant	-	NC_000006.12:g.15496819T>C	ExAC,gnomAD
JARID2	Q92833	p.Val533Met	rs372890344	missense variant	-	NC_000006.12:g.15496822G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His534Gln	rs763394577	missense variant	-	NC_000006.12:g.15496827C>A	ExAC,gnomAD
JARID2	Q92833	p.His534Leu	rs776009522	missense variant	-	NC_000006.12:g.15496826A>T	ExAC,gnomAD
JARID2	Q92833	p.His534Arg	rs776009522	missense variant	-	NC_000006.12:g.15496826A>G	ExAC,gnomAD
JARID2	Q92833	p.His534Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496825C>T	NCI-TCGA
JARID2	Q92833	p.Pro536Ser	rs1199538352	missense variant	-	NC_000006.12:g.15496831C>T	TOPMed
JARID2	Q92833	p.Pro536Leu	rs749941345	missense variant	-	NC_000006.12:g.15496832C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asp538Gly	rs755805284	missense variant	-	NC_000006.12:g.15496838A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser539Leu	rs776159543	missense variant	-	NC_000006.12:g.15496841C>T	ExAC,TOPMed
JARID2	Q92833	p.Lys541Arg	rs1322179893	missense variant	-	NC_000006.12:g.15496847A>G	gnomAD
JARID2	Q92833	p.Ala542Thr	rs143082189	missense variant	-	NC_000006.12:g.15496849G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala542Val	rs778583499	missense variant	-	NC_000006.12:g.15496850C>T	ExAC,gnomAD
JARID2	Q92833	p.Glu543Lys	rs758296303	missense variant	-	NC_000006.12:g.15496852G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu543Gly	rs1230502778	missense variant	-	NC_000006.12:g.15496853A>G	TOPMed,gnomAD
JARID2	Q92833	p.Lys544Asn	rs1261486133	missense variant	-	NC_000006.12:g.15496857G>C	gnomAD
JARID2	Q92833	p.Gly546Ser	rs200762827	missense variant	-	NC_000006.12:g.15496861G>A	1000Genomes,TOPMed,gnomAD
JARID2	Q92833	p.Gly547Asp	rs1490837156	missense variant	-	NC_000006.12:g.15496865G>A	gnomAD
JARID2	Q92833	p.Gly547Cys	rs747154161	missense variant	-	NC_000006.12:g.15496864G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly547Ser	rs747154161	missense variant	-	NC_000006.12:g.15496864G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala549Ser	rs771140450	missense variant	-	NC_000006.12:g.15496870G>T	ExAC,gnomAD
JARID2	Q92833	p.Gly550Arg	rs746104955	missense variant	-	NC_000006.12:g.15496873G>A	ExAC,gnomAD
JARID2	Q92833	p.Trp551Gly	rs775748791	missense variant	-	NC_000006.12:g.15496876T>G	ExAC,gnomAD
JARID2	Q92833	p.Ala552Pro	rs1457722606	missense variant	-	NC_000006.12:g.15496879G>C	gnomAD
JARID2	Q92833	p.Ala552Val	rs370158092	missense variant	-	NC_000006.12:g.15496880C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala552Thr	rs1457722606	missense variant	-	NC_000006.12:g.15496879G>A	gnomAD
JARID2	Q92833	p.Ala553Ser	rs1425918264	missense variant	-	NC_000006.12:g.15496882G>T	gnomAD
JARID2	Q92833	p.Met554Val	rs772765775	missense variant	-	NC_000006.12:g.15496885A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu556Lys	rs765990652	missense variant	-	NC_000006.12:g.15496891G>A	ExAC
JARID2	Q92833	p.Glu556Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496892A>T	NCI-TCGA
JARID2	Q92833	p.Pro558Ala	rs1307988309	missense variant	-	NC_000006.12:g.15496897C>G	TOPMed,gnomAD
JARID2	Q92833	p.Pro558Ser	rs1307988309	missense variant	-	NC_000006.12:g.15496897C>T	TOPMed,gnomAD
JARID2	Q92833	p.Pro558Leu	rs753479975	missense variant	-	NC_000006.12:g.15496898C>T	ExAC,gnomAD
JARID2	Q92833	p.Val559Ile	rs557857812	missense variant	-	NC_000006.12:g.15496900G>A	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val559Phe	rs557857812	missense variant	-	NC_000006.12:g.15496900G>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Leu560Phe	rs1361293210	missense variant	-	NC_000006.12:g.15496903C>T	gnomAD
JARID2	Q92833	p.Arg561Ser	rs758346136	missense variant	-	NC_000006.12:g.15496908G>T	ExAC,gnomAD
JARID2	Q92833	p.Arg561Gly	rs752471157	missense variant	-	NC_000006.12:g.15496906A>G	ExAC,gnomAD
JARID2	Q92833	p.Ser563Phe	rs1178362050	missense variant	-	NC_000006.12:g.15496913C>T	gnomAD
JARID2	Q92833	p.Ala564Thr	rs757273269	missense variant	-	NC_000006.12:g.15496915G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys565Asn	rs1168551308	missense variant	-	NC_000006.12:g.15496920G>T	gnomAD
JARID2	Q92833	p.Lys565Arg	rs769949038	missense variant	-	NC_000006.12:g.15496919A>G	ExAC,gnomAD
JARID2	Q92833	p.Lys565Glu	rs746052278	missense variant	-	NC_000006.12:g.15496918A>G	ExAC,gnomAD
JARID2	Q92833	p.Glu566Gly	rs1369179322	missense variant	-	NC_000006.12:g.15496922A>G	gnomAD
JARID2	Q92833	p.Asp569Asn	rs1286550085	missense variant	-	NC_000006.12:g.15496930G>A	TOPMed
JARID2	Q92833	p.Ile572Leu	rs1276257841	missense variant	-	NC_000006.12:g.15496939A>C	TOPMed
JARID2	Q92833	p.Ile574Val	rs1315081738	missense variant	-	NC_000006.12:g.15496945A>G	gnomAD
JARID2	Q92833	p.Glu575Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15496948G>A	NCI-TCGA
JARID2	Q92833	p.Ser576Leu	rs774930815	missense variant	-	NC_000006.12:g.15496952C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg578His	rs1206517184	missense variant	-	NC_000006.12:g.15496958G>A	TOPMed,gnomAD
JARID2	Q92833	p.Arg578Cys	rs759192312	missense variant	-	NC_000006.12:g.15496957C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala579Thr	rs752536884	missense variant	-	NC_000006.12:g.15496960G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala579Ser	rs752536884	missense variant	-	NC_000006.12:g.15496960G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gln580Arg	rs1478462316	missense variant	-	NC_000006.12:g.15496964A>G	TOPMed
JARID2	Q92833	p.Phe584Val	rs1244560840	missense variant	-	NC_000006.12:g.15496975T>G	TOPMed,gnomAD
JARID2	Q92833	p.Phe584Leu	rs1462051464	missense variant	-	NC_000006.12:g.15496977C>G	TOPMed,gnomAD
JARID2	Q92833	p.Pro591Arg	rs1430877456	missense variant	-	NC_000006.12:g.15496997C>G	gnomAD
JARID2	Q92833	p.Pro591Leu	COSM3920950	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15496997C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Pro592Leu	rs1377188510	missense variant	-	NC_000006.12:g.15497000C>T	gnomAD
JARID2	Q92833	p.Pro592LeuPheSerTerUnkUnk	COSM1441795	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15496995C>-	NCI-TCGA Cosmic
JARID2	Q92833	p.Pro593Thr	rs1464566433	missense variant	-	NC_000006.12:g.15497002C>A	gnomAD
JARID2	Q92833	p.Pro593Leu	rs1338979330	missense variant	-	NC_000006.12:g.15497003C>T	TOPMed,gnomAD
JARID2	Q92833	p.Arg596Leu	rs1319707452	missense variant	-	NC_000006.12:g.15497012G>T	gnomAD
JARID2	Q92833	p.Arg596Gln	rs1319707452	missense variant	-	NC_000006.12:g.15497012G>A	gnomAD
JARID2	Q92833	p.Arg596Trp	rs781217563	missense variant	-	NC_000006.12:g.15497011C>T	ExAC,gnomAD
JARID2	Q92833	p.Glu598Lys	COSM1075248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15497017G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Glu604Asp	rs768843433	missense variant	-	NC_000006.12:g.15497037G>C	ExAC,gnomAD
JARID2	Q92833	p.Glu604Gln	rs749528510	missense variant	-	NC_000006.12:g.15497035G>C	ExAC,gnomAD
JARID2	Q92833	p.Val608Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15497047G>A	NCI-TCGA
JARID2	Q92833	p.Thr609Met	rs1272628515	missense variant	-	NC_000006.12:g.15497051C>T	TOPMed
JARID2	Q92833	p.Gln612Ter	rs1487041468	stop gained	-	NC_000006.12:g.15497059C>T	gnomAD
JARID2	Q92833	p.His615Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15497068C>T	NCI-TCGA
JARID2	Q92833	p.Arg619Gln	rs966646702	missense variant	-	NC_000006.12:g.15497081G>A	TOPMed
JARID2	Q92833	p.Trp621Ter	rs1178603113	stop gained	-	NC_000006.12:g.15497088G>A	gnomAD
JARID2	Q92833	p.Gly622Asp	rs776254668	missense variant	-	NC_000006.12:g.15497090G>A	ExAC
JARID2	Q92833	p.Arg627Trp	rs1157174829	missense variant	-	NC_000006.12:g.15497104C>T	gnomAD
JARID2	Q92833	p.Arg627Gln	rs1343262221	missense variant	-	NC_000006.12:g.15497105G>A	gnomAD
JARID2	Q92833	p.Lys632Arg	rs200415904	missense variant	-	NC_000006.12:g.15497120A>G	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Leu635His	rs1403016206	missense variant	-	NC_000006.12:g.15497129T>A	gnomAD
JARID2	Q92833	p.Ser637Thr	rs959156268	missense variant	-	NC_000006.12:g.15497134T>A	TOPMed,gnomAD
JARID2	Q92833	p.Gln638His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15497139G>T	NCI-TCGA
JARID2	Q92833	p.Gly639Asp	rs990914006	missense variant	-	NC_000006.12:g.15497141G>A	TOPMed,gnomAD
JARID2	Q92833	p.Asp643Glu	rs751397993	missense variant	-	NC_000006.12:g.15497154C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu644Asp	rs1260870626	missense variant	-	NC_000006.12:g.15497157G>C	TOPMed
JARID2	Q92833	p.Leu655Val	rs1202321814	missense variant	-	NC_000006.12:g.15500924C>G	TOPMed
JARID2	Q92833	p.Ala656Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15500927G>T	NCI-TCGA
JARID2	Q92833	p.Cys657Trp	rs1403355760	missense variant	-	NC_000006.12:g.15500932C>G	gnomAD
JARID2	Q92833	p.Phe658Leu	rs1437199477	missense variant	-	NC_000006.12:g.15500935T>A	TOPMed
JARID2	Q92833	p.Phe658Leu	rs1454236802	missense variant	-	NC_000006.12:g.15500933T>C	gnomAD
JARID2	Q92833	p.Arg660Trp	rs1273839023	missense variant	-	NC_000006.12:g.15500939C>T	TOPMed
JARID2	Q92833	p.Arg660Gln	rs1337884490	missense variant	-	NC_000006.12:g.15500940G>A	TOPMed,gnomAD
JARID2	Q92833	p.Gly667Ser	rs1272384842	missense variant	-	NC_000006.12:g.15500960G>A	gnomAD
JARID2	Q92833	p.Gln669Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.15500966C>T	NCI-TCGA
JARID2	Q92833	p.Val671Met	rs375947654	missense variant	-	NC_000006.12:g.15500972G>A	ESP,TOPMed
JARID2	Q92833	p.Leu674Phe	COSM269404	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15500981C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Lys676Arg	rs1012951178	missense variant	-	NC_000006.12:g.15500988A>G	TOPMed,gnomAD
JARID2	Q92833	p.Lys676Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.15500987A>T	NCI-TCGA
JARID2	Q92833	p.Trp677MetPheSerTerUnkUnkUnk	COSM1441796	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.15500983_15500984insA	NCI-TCGA Cosmic
JARID2	Q92833	p.Asn678Lys	rs1261511825	missense variant	-	NC_000006.12:g.15500995C>A	gnomAD
JARID2	Q92833	p.Arg688Lys	rs1442060400	missense variant	-	NC_000006.12:g.15501024G>A	TOPMed
JARID2	Q92833	p.Arg688Gly	COSM4925052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501023A>G	NCI-TCGA Cosmic
JARID2	Q92833	p.Thr689Ala	rs1446189314	missense variant	-	NC_000006.12:g.15501026A>G	gnomAD
JARID2	Q92833	p.Ala690Ser	rs1270677152	missense variant	-	NC_000006.12:g.15501029G>T	gnomAD
JARID2	Q92833	p.Ala690Asp	COSM261476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501030C>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Gln691Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15501032C>G	NCI-TCGA
JARID2	Q92833	p.Arg693Trp	COSM3859837	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501038C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Arg693Gln	COSM740323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501039G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Ala695Gly	rs201645606	missense variant	-	NC_000006.12:g.15501045C>G	ExAC,gnomAD
JARID2	Q92833	p.Lys696Gln	rs771804802	missense variant	-	NC_000006.12:g.15501047A>C	ExAC
JARID2	Q92833	p.Glu699Ala	rs1426590590	missense variant	-	NC_000006.12:g.15501057A>C	gnomAD
JARID2	Q92833	p.Glu699Gly	rs1426590590	missense variant	-	NC_000006.12:g.15501057A>G	gnomAD
JARID2	Q92833	p.Tyr704His	COSM3859839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501071T>C	NCI-TCGA Cosmic
JARID2	Q92833	p.Asp709Asn	rs776557232	missense variant	-	NC_000006.12:g.15501086G>A	ExAC,gnomAD
JARID2	Q92833	p.Pro713Ala	rs1281529122	missense variant	-	NC_000006.12:g.15501098C>G	gnomAD
JARID2	Q92833	p.Glu714Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15501103G>T	NCI-TCGA
JARID2	Q92833	p.Glu714Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15501101G>A	NCI-TCGA
JARID2	Q92833	p.Arg717Gln	rs369567122	missense variant	-	NC_000006.12:g.15501111G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg717Trp	rs548954910	missense variant	-	NC_000006.12:g.15501110C>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg718Trp	rs764335143	missense variant	-	NC_000006.12:g.15501113C>T	ExAC,gnomAD
JARID2	Q92833	p.Arg718Gln	rs201880755	missense variant	-	NC_000006.12:g.15501114G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu722Ala	rs1266216429	missense variant	-	NC_000006.12:g.15501126A>C	gnomAD
JARID2	Q92833	p.Glu722Gln	rs781757019	missense variant	-	NC_000006.12:g.15501125G>C	ExAC,gnomAD
JARID2	Q92833	p.Val723Leu	COSM6105810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501128G>C	NCI-TCGA Cosmic
JARID2	Q92833	p.Met725Thr	rs1481106434	missense variant	-	NC_000006.12:g.15501135T>C	gnomAD
JARID2	Q92833	p.Glu726Asp	COSM6105808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501139G>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Lys727Glu	rs1199736578	missense variant	-	NC_000006.12:g.15501140A>G	gnomAD
JARID2	Q92833	p.Arg733Cys	rs746377785	missense variant	-	NC_000006.12:g.15501158C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg733His	rs200766229	missense variant	-	NC_000006.12:g.15501159G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg733Leu	rs200766229	missense variant	-	NC_000006.12:g.15501159G>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro736Leu	rs747758924	missense variant	-	NC_000006.12:g.15501168C>T	ExAC,gnomAD
JARID2	Q92833	p.Pro736Thr	COSM3859842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501167C>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Gly739Val	rs1318985876	missense variant	-	NC_000006.12:g.15501177G>T	TOPMed
JARID2	Q92833	p.His740Tyr	rs777404268	missense variant	-	NC_000006.12:g.15501179C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr741Ile	rs147485304	missense variant	-	NC_000006.12:g.15501183C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu742Gln	rs139860744	missense variant	-	NC_000006.12:g.15501185G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn743Ile	COSM6173110	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501189A>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Asp744Glu	rs776577768	missense variant	-	NC_000006.12:g.15501193C>A	ExAC,gnomAD
JARID2	Q92833	p.Asp744Asn	rs142763537	missense variant	-	NC_000006.12:g.15501191G>A	1000Genomes,ESP,TOPMed,gnomAD
JARID2	Q92833	p.His745Gln	rs147344199	missense variant	-	NC_000006.12:g.15501196C>A	1000Genomes,ExAC,gnomAD
JARID2	Q92833	p.His745Asn	rs1241433724	missense variant	-	NC_000006.12:g.15501194C>A	TOPMed,gnomAD
JARID2	Q92833	p.His745Tyr	rs1241433724	missense variant	-	NC_000006.12:g.15501194C>T	TOPMed,gnomAD
JARID2	Q92833	p.Lys747Gln	rs1351105435	missense variant	-	NC_000006.12:g.15501200A>C	TOPMed,gnomAD
JARID2	Q92833	p.His749Gln	rs769959268	missense variant	-	NC_000006.12:g.15501208C>A	ExAC,gnomAD
JARID2	Q92833	p.Leu751Val	rs979500439	missense variant	-	NC_000006.12:g.15501212C>G	TOPMed
JARID2	Q92833	p.Arg753Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15501219G>C	NCI-TCGA
JARID2	Q92833	p.Arg753His	rs369351310	missense variant	-	NC_000006.12:g.15501219G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg753Cys	rs148788707	missense variant	-	NC_000006.12:g.15501218C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu755Lys	rs1417007497	missense variant	-	NC_000006.12:g.15501224G>A	gnomAD
JARID2	Q92833	p.Leu760Pro	rs762172293	missense variant	-	NC_000006.12:g.15501240T>C	ExAC,gnomAD
JARID2	Q92833	p.Leu760Phe	rs1364788178	missense variant	-	NC_000006.12:g.15501239C>T	gnomAD
JARID2	Q92833	p.Ile761Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15501244C>G	NCI-TCGA
JARID2	Q92833	p.His762Leu	rs1395699550	missense variant	-	NC_000006.12:g.15501246A>T	TOPMed,gnomAD
JARID2	Q92833	p.Gly763Ser	rs372474171	missense variant	-	NC_000006.12:g.15501248G>A	ESP,TOPMed,gnomAD
JARID2	Q92833	p.Gly763Cys	rs372474171	missense variant	-	NC_000006.12:g.15501248G>T	ESP,TOPMed,gnomAD
JARID2	Q92833	p.Val764Met	rs756644508	missense variant	-	NC_000006.12:g.15501251G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala765Val	rs202079041	missense variant	-	NC_000006.12:g.15501255C>T	1000Genomes,ExAC
JARID2	Q92833	p.Ala765Thr	rs1383677275	missense variant	-	NC_000006.12:g.15501254G>A	TOPMed,gnomAD
JARID2	Q92833	p.Pro766His	rs1394387722	missense variant	-	NC_000006.12:g.15501258C>A	TOPMed,gnomAD
JARID2	Q92833	p.Arg767Gly	rs752249423	missense variant	-	NC_000006.12:g.15501260A>G	ExAC,gnomAD
JARID2	Q92833	p.Asn768Ser	rs201528583	missense variant	-	NC_000006.12:g.15501264A>G	1000Genomes
JARID2	Q92833	p.Gly769Ser	rs777546707	missense variant	-	NC_000006.12:g.15501266G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Phe770Ile	rs1044393903	missense variant	-	NC_000006.12:g.15501269T>A	TOPMed
JARID2	Q92833	p.Arg771His	rs770714139	missense variant	-	NC_000006.12:g.15501273G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg771Cys	rs199645405	missense variant	-	NC_000006.12:g.15501272C>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser772Cys	rs780882768	missense variant	-	NC_000006.12:g.15501275A>T	ExAC,gnomAD
JARID2	Q92833	p.Ser772Asn	rs1250308213	missense variant	-	NC_000006.12:g.15501276G>A	gnomAD
JARID2	Q92833	p.Ser772Arg	rs745772893	missense variant	-	NC_000006.12:g.15501277C>G	ExAC,gnomAD
JARID2	Q92833	p.Lys773Glu	rs1286741870	missense variant	-	NC_000006.12:g.15501278A>G	TOPMed
JARID2	Q92833	p.Glu776Asp	rs1197207314	missense variant	-	NC_000006.12:g.15501289G>T	TOPMed,gnomAD
JARID2	Q92833	p.Gln779Arg	rs201374020	missense variant	-	NC_000006.12:g.15501297A>G	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Leu782Phe	rs561317616	missense variant	-	NC_000006.12:g.15501307G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Thr784Ser	rs763193583	missense variant	-	NC_000006.12:g.15501312C>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly785Ser	rs768624592	missense variant	-	NC_000006.12:g.15501314G>A	ExAC,gnomAD
JARID2	Q92833	p.Arg786Trp	rs774574181	missense variant	-	NC_000006.12:g.15501317C>T	ExAC,gnomAD
JARID2	Q92833	p.Arg786Gln	rs1371432770	missense variant	-	NC_000006.12:g.15501318G>A	gnomAD
JARID2	Q92833	p.Arg786Gly	rs774574181	missense variant	-	NC_000006.12:g.15501317C>G	ExAC,gnomAD
JARID2	Q92833	p.Arg787Gln	rs767882501	missense variant	-	NC_000006.12:g.15501321G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg787Trp	rs761961082	missense variant	-	NC_000006.12:g.15501320C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg788Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.15501323C>T	NCI-TCGA
JARID2	Q92833	p.Arg788Gln	rs879661038	missense variant	-	NC_000006.12:g.15501324G>A	TOPMed,gnomAD
JARID2	Q92833	p.Phe790Leu	rs1334524016	missense variant	-	NC_000006.12:g.15501331C>G	gnomAD
JARID2	Q92833	p.Phe790LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15501331C>-	NCI-TCGA
JARID2	Q92833	p.Ala791Val	rs761144319	missense variant	-	NC_000006.12:g.15501333C>T	ExAC,gnomAD
JARID2	Q92833	p.Ala791Thr	rs887454371	missense variant	-	NC_000006.12:g.15501332G>A	TOPMed,gnomAD
JARID2	Q92833	p.Glu793Ala	rs752196185	missense variant	-	NC_000006.12:g.15501339A>C	ExAC,gnomAD
JARID2	Q92833	p.Lys794Glu	rs777172906	missense variant	-	NC_000006.12:g.15501341A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys794Gln	rs777172906	missense variant	-	NC_000006.12:g.15501341A>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val796Ala	rs756904768	missense variant	-	NC_000006.12:g.15501348T>C	ExAC,gnomAD
JARID2	Q92833	p.Glu799ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15501353_15501356AAGG>-	NCI-TCGA
JARID2	Q92833	p.Glu800Gly	rs781115380	missense variant	-	NC_000006.12:g.15501360A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Glu800Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15501361G>T	NCI-TCGA
JARID2	Q92833	p.Glu800Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15501361G>C	NCI-TCGA
JARID2	Q92833	p.Glu801Asp	rs1260179972	missense variant	-	NC_000006.12:g.15501364G>C	gnomAD
JARID2	Q92833	p.Glu801Lys	rs745715868	missense variant	-	NC_000006.12:g.15501362G>A	ExAC,gnomAD
JARID2	Q92833	p.Glu802Lys	rs756117380	missense variant	-	NC_000006.12:g.15501365G>A	ExAC,gnomAD
JARID2	Q92833	p.Asp803Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15501368G>A	NCI-TCGA
JARID2	Q92833	p.Asp803Glu	rs1308726993	missense variant	-	NC_000006.12:g.15501370C>A	TOPMed
JARID2	Q92833	p.Lys804Arg	rs780072251	missense variant	-	NC_000006.12:g.15501372A>G	ExAC,gnomAD
JARID2	Q92833	p.Val806Ile	rs371497185	missense variant	-	NC_000006.12:g.15501377G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn808Ser	rs533461130	missense variant	-	NC_000006.12:g.15501384A>G	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn808Ile	rs533461130	missense variant	-	NC_000006.12:g.15501384A>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn808Lys	rs748370376	missense variant	-	NC_000006.12:g.15501385T>G	ExAC,gnomAD
JARID2	Q92833	p.Phe810Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15501391C>A	NCI-TCGA
JARID2	Q92833	p.His811Tyr	COSM3622179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15501392C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Lys812Gln	rs773548877	missense variant	-	NC_000006.12:g.15501395A>C	ExAC,gnomAD
JARID2	Q92833	p.Lys816AsnTerSerAsnSerLeuLysSerThrProAlaAspUnk	rs765922245	stop gained	-	NC_000006.12:g.15501408_15501409insTTGAAGTAATAGCCTAAAATCCACCCCAGCAGAT	ExAC
JARID2	Q92833	p.Leu822Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15504516T>C	NCI-TCGA
JARID2	Q92833	p.Thr824Ile	NCI-TCGA novel	inframe deletion	-	NC_000006.12:g.15504522_15504524CTT>-	NCI-TCGA
JARID2	Q92833	p.Tyr826LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15504522_15504523insT	NCI-TCGA
JARID2	Q92833	p.Ala829Val	rs1224740913	missense variant	-	NC_000006.12:g.15504537C>T	gnomAD
JARID2	Q92833	p.Met833Ile	rs755860869	missense variant	-	NC_000006.12:g.15504550G>A	ExAC,gnomAD
JARID2	Q92833	p.Cys836Arg	rs375843450	missense variant	-	NC_000006.12:g.15504557T>C	ESP,TOPMed,gnomAD
JARID2	Q92833	p.Cys836Ser	COSM290061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15504558G>C	NCI-TCGA Cosmic
JARID2	Q92833	p.Ser838Ile	rs1159188467	missense variant	-	NC_000006.12:g.15504564G>T	gnomAD
JARID2	Q92833	p.Ala842Thr	rs183236794	missense variant	-	NC_000006.12:g.15504575G>A	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala842Ser	COSM3410719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15504575G>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Pro843Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15504578C>G	NCI-TCGA
JARID2	Q92833	p.Pro843Leu	rs367950791	missense variant	-	NC_000006.12:g.15504579C>T	ESP,TOPMed,gnomAD
JARID2	Q92833	p.Ala844Pro	rs1428494670	missense variant	-	NC_000006.12:g.15504581G>C	TOPMed
JARID2	Q92833	p.Glu845Lys	rs754929108	missense variant	-	NC_000006.12:g.15504584G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ile846Val	rs1441090739	missense variant	-	NC_000006.12:g.15504587A>G	gnomAD
JARID2	Q92833	p.Glu847Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15504590G>A	NCI-TCGA
JARID2	Q92833	p.Asp858Glu	rs1158562311	missense variant	-	NC_000006.12:g.15507168C>A	TOPMed
JARID2	Q92833	p.Cys859Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.15507171C>A	NCI-TCGA
JARID2	Q92833	p.His864Gln	COSM4847368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15507186C>G	NCI-TCGA Cosmic
JARID2	Q92833	p.Gly874Asp	rs752539694	missense variant	-	NC_000006.12:g.15507215G>A	ExAC,gnomAD
JARID2	Q92833	p.Gly876Val	rs1335468434	missense variant	-	NC_000006.12:g.15507221G>T	gnomAD
JARID2	Q92833	p.Pro878Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15507226C>T	NCI-TCGA
JARID2	Q92833	p.Pro884Arg	rs1272040051	missense variant	-	NC_000006.12:g.15507245C>G	gnomAD
JARID2	Q92833	p.Ser886PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15507246_15507247insT	NCI-TCGA
JARID2	Q92833	p.Ser886Leu	COSM1075252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15507251C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Leu892Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15507359C>T	NCI-TCGA
JARID2	Q92833	p.Thr893Ser	rs1281939254	missense variant	-	NC_000006.12:g.15507363C>G	TOPMed
JARID2	Q92833	p.Asn897Ser	rs755332982	missense variant	-	NC_000006.12:g.15507375A>G	ExAC,gnomAD
JARID2	Q92833	p.Leu903Gln	COSM4933336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15507393T>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Arg904His	rs571642301	missense variant	-	NC_000006.12:g.15507396G>A	1000Genomes,ExAC,gnomAD
JARID2	Q92833	p.Pro910Ser	rs780557443	missense variant	-	NC_000006.12:g.15507413C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro910ValPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000006.12:g.15507411_15507412insAGTTTATTATCCATGATGCGCAA	NCI-TCGA
JARID2	Q92833	p.Ile914Val	rs779574524	missense variant	-	NC_000006.12:g.15508348A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asn918Asp	rs1393357769	missense variant	-	NC_000006.12:g.15508360A>G	gnomAD
JARID2	Q92833	p.Phe923Ser	COSM1075254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15508376T>C	NCI-TCGA Cosmic
JARID2	Q92833	p.Ser929Ala	rs768349280	missense variant	-	NC_000006.12:g.15508393T>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg930Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15508396C>G	NCI-TCGA
JARID2	Q92833	p.Arg930Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15508397G>A	NCI-TCGA
JARID2	Q92833	p.His934Leu	rs778663000	missense variant	-	NC_000006.12:g.15508409A>T	ExAC,gnomAD
JARID2	Q92833	p.His934ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15508408C>-	NCI-TCGA
JARID2	Q92833	p.Ile938Val	rs771764442	missense variant	-	NC_000006.12:g.15508420A>G	ExAC,gnomAD
JARID2	Q92833	p.Thr943Ala	rs1427775473	missense variant	-	NC_000006.12:g.15508435A>G	TOPMed,gnomAD
JARID2	Q92833	p.Ile948Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15508452T>G	NCI-TCGA
JARID2	Q92833	p.Glu956Lys	COSM3622182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15511315G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Asn958His	rs1284894640	missense variant	-	NC_000006.12:g.15511321A>C	gnomAD
JARID2	Q92833	p.Asn958Lys	rs1361302063	missense variant	-	NC_000006.12:g.15511323C>G	gnomAD
JARID2	Q92833	p.Asn958Ser	COSM4839643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15511322A>G	NCI-TCGA Cosmic
JARID2	Q92833	p.Glu961Lys	COSM3622183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15511330G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Asp962Asn	COSM6173107	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15511333G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Val963Met	rs1470266847	missense variant	-	NC_000006.12:g.15511336G>A	TOPMed
JARID2	Q92833	p.Thr966Ala	rs768821228	missense variant	-	NC_000006.12:g.15511345A>G	ExAC,gnomAD
JARID2	Q92833	p.Thr966Ile	rs1277655127	missense variant	-	NC_000006.12:g.15511346C>T	gnomAD
JARID2	Q92833	p.Leu967Val	rs200466167	missense variant	-	NC_000006.12:g.15511348C>G	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Leu968Pro	rs767877427	missense variant	-	NC_000006.12:g.15511352T>C	ExAC,gnomAD
JARID2	Q92833	p.Asn971Ser	rs773656923	missense variant	-	NC_000006.12:g.15511361A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro974Ser	rs761201486	missense variant	-	NC_000006.12:g.15511369C>T	ExAC,gnomAD
JARID2	Q92833	p.Pro974GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15511367C>-	NCI-TCGA
JARID2	Q92833	p.Gln977Arg	rs1176242286	missense variant	-	NC_000006.12:g.15511379A>G	gnomAD
JARID2	Q92833	p.Met978Ile	rs373805765	missense variant	-	NC_000006.12:g.15511383G>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Met978Ile	rs373805765	missense variant	-	NC_000006.12:g.15511383G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser981Asn	rs758053761	missense variant	-	NC_000006.12:g.15511391G>A	ExAC,gnomAD
JARID2	Q92833	p.Asn982Lys	rs368584148	missense variant	-	NC_000006.12:g.15511395C>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val983Ile	rs751270951	missense variant	-	NC_000006.12:g.15511396G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val983Phe	rs751270951	missense variant	-	NC_000006.12:g.15511396G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser986Tyr	COSM71233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512212C>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Glu988Lys	rs1212878571	missense variant	-	NC_000006.12:g.15512217G>A	gnomAD
JARID2	Q92833	p.Cys991Gly	rs778992015	missense variant	-	NC_000006.12:g.15512226T>G	ExAC,gnomAD
JARID2	Q92833	p.Cys991Arg	rs778992015	missense variant	-	NC_000006.12:g.15512226T>C	ExAC,gnomAD
JARID2	Q92833	p.Lys992Glu	rs748338100	missense variant	-	NC_000006.12:g.15512229A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys992Asn	rs552024557	missense variant	-	NC_000006.12:g.15512231A>C	1000Genomes,ExAC
JARID2	Q92833	p.Glu993Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15512232G>C	NCI-TCGA
JARID2	Q92833	p.Lys996Arg	rs781494356	missense variant	-	NC_000006.12:g.15512242A>G	ExAC,gnomAD
JARID2	Q92833	p.Lys996Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15512243G>T	NCI-TCGA
JARID2	Q92833	p.Lys996Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15512241A>G	NCI-TCGA
JARID2	Q92833	p.Val997Ala	COSM4414674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512245T>C	NCI-TCGA Cosmic
JARID2	Q92833	p.His998Gln	rs776956236	missense variant	-	NC_000006.12:g.15512249C>G	ExAC,gnomAD
JARID2	Q92833	p.His998Tyr	rs1406165348	missense variant	-	NC_000006.12:g.15512247C>T	gnomAD
JARID2	Q92833	p.His998Arg	COSM269405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512248A>G	NCI-TCGA Cosmic
JARID2	Q92833	p.Arg999Ser	COSM3777256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512252G>C	NCI-TCGA Cosmic
JARID2	Q92833	p.Val1001Met	rs140223161	missense variant	-	NC_000006.12:g.15512256G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gln1003Lys	COSM3859851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512262C>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Val1009Ile	rs940675594	missense variant	-	NC_000006.12:g.15512280G>A	gnomAD
JARID2	Q92833	p.Cys1010Ser	rs1210044582	missense variant	-	NC_000006.12:g.15512284G>C	gnomAD
JARID2	Q92833	p.Ser1014Phe	COSM1075260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512296C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Ser1017Cys	rs760326231	missense variant	-	NC_000006.12:g.15512305C>G	ExAC,gnomAD
JARID2	Q92833	p.Lys1018Arg	rs1047634222	missense variant	-	NC_000006.12:g.15512308A>G	TOPMed
JARID2	Q92833	p.Lys1018Ile	COSM3697623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512308A>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Cys1020Tyr	COSM1075261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512314G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Gly1022Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15512319G>T	NCI-TCGA
JARID2	Q92833	p.Ser1024Asn	rs754979948	missense variant	-	NC_000006.12:g.15512326G>A	ExAC,gnomAD
JARID2	Q92833	p.Gly1040Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15512374G>T	NCI-TCGA
JARID2	Q92833	p.Phe1041Cys	rs747279162	missense variant	-	NC_000006.12:g.15512377T>G	ExAC,gnomAD
JARID2	Q92833	p.Glu1042Gln	rs757523906	missense variant	-	NC_000006.12:g.15512379G>C	ExAC,gnomAD
JARID2	Q92833	p.Arg1049Cys	rs1005739215	missense variant	-	NC_000006.12:g.15512924C>T	-
JARID2	Q92833	p.Arg1049His	rs1231706914	missense variant	-	NC_000006.12:g.15512925G>A	gnomAD
JARID2	Q92833	p.Arg1049Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15512925G>T	NCI-TCGA
JARID2	Q92833	p.Arg1050Gly	rs1435449618	missense variant	-	NC_000006.12:g.15512927C>G	TOPMed
JARID2	Q92833	p.Arg1050His	COSM4352288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512928G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.His1051Arg	rs148235578	missense variant	-	NC_000006.12:g.15512931A>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ile1052Val	rs772814855	missense variant	-	NC_000006.12:g.15512933A>G	ExAC,gnomAD
JARID2	Q92833	p.Ala1053Val	rs1211292490	missense variant	-	NC_000006.12:g.15512937C>T	TOPMed
JARID2	Q92833	p.Met1058Val	COSM3859854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15512951A>G	NCI-TCGA Cosmic
JARID2	Q92833	p.Ile1065Thr	rs776286519	missense variant	-	NC_000006.12:g.15512973T>C	ExAC,gnomAD
JARID2	Q92833	p.Ala1070Glu	rs759257891	missense variant	-	NC_000006.12:g.15512988C>A	ExAC,gnomAD
JARID2	Q92833	p.Ala1070Gly	rs759257891	missense variant	-	NC_000006.12:g.15512988C>G	ExAC,gnomAD
JARID2	Q92833	p.Lys1071Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15512990A>G	NCI-TCGA
JARID2	Q92833	p.Glu1073Lys	rs775367617	missense variant	-	NC_000006.12:g.15512996G>A	ExAC,gnomAD
JARID2	Q92833	p.Glu1073LysPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15512989A>-	NCI-TCGA
JARID2	Q92833	p.Glu1073ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15512988_15512989insA	NCI-TCGA
JARID2	Q92833	p.Gly1075Ser	rs764058660	missense variant	-	NC_000006.12:g.15513002G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro1076Ala	rs1044917304	missense variant	-	NC_000006.12:g.15513005C>G	TOPMed
JARID2	Q92833	p.Pro1076Arg	COSM3697624	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15513006C>G	NCI-TCGA Cosmic
JARID2	Q92833	p.Thr1077Ala	rs1303856450	missense variant	-	NC_000006.12:g.15513008A>G	gnomAD
JARID2	Q92833	p.Thr1080Ala	rs757419279	missense variant	-	NC_000006.12:g.15513017A>G	ExAC
JARID2	Q92833	p.Ser1082Ter	NCI-TCGA novel	frameshift	-	NC_000006.12:g.15513024C>-	NCI-TCGA
JARID2	Q92833	p.Ala1083Ser	rs1233830978	missense variant	-	NC_000006.12:g.15513026G>T	TOPMed
JARID2	Q92833	p.Glu1087Gln	rs756501710	missense variant	-	NC_000006.12:g.15513038G>C	ExAC,gnomAD
JARID2	Q92833	p.Glu1087Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.15513038G>T	NCI-TCGA
JARID2	Q92833	p.Leu1088Phe	rs780593987	missense variant	-	NC_000006.12:g.15513041C>T	ExAC,gnomAD
JARID2	Q92833	p.Asp1090His	rs1294061056	missense variant	-	NC_000006.12:g.15513240G>C	gnomAD
JARID2	Q92833	p.Asp1090Asn	rs1294061056	missense variant	-	NC_000006.12:g.15513240G>A	gnomAD
JARID2	Q92833	p.Thr1091Ala	rs1335249629	missense variant	-	NC_000006.12:g.15513243A>G	gnomAD
JARID2	Q92833	p.Glu1092Asp	rs769494517	missense variant	-	NC_000006.12:g.15513248G>T	ExAC,gnomAD
JARID2	Q92833	p.Arg1094Gln	rs201376199	missense variant	-	NC_000006.12:g.15513253G>A	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1094Trp	rs749020539	missense variant	-	NC_000006.12:g.15513252C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1096Gly	rs761691043	missense variant	-	NC_000006.12:g.15513258C>G	ExAC,gnomAD
JARID2	Q92833	p.Arg1096His	rs772155471	missense variant	-	NC_000006.12:g.15513259G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1097Trp	rs1169031214	missense variant	-	NC_000006.12:g.15513261A>T	gnomAD
JARID2	Q92833	p.Leu1099Pro	rs1426198397	missense variant	-	NC_000006.12:g.15513268T>C	gnomAD
JARID2	Q92833	p.His1105Arg	rs1450226818	missense variant	-	NC_000006.12:g.15513286A>G	gnomAD
JARID2	Q92833	p.His1105Gln	rs1313544698	missense variant	-	NC_000006.12:g.15513287C>G	TOPMed,gnomAD
JARID2	Q92833	p.Ser1107Pro	rs759887578	missense variant	-	NC_000006.12:g.15513291T>C	ExAC,gnomAD
JARID2	Q92833	p.Ala1108Thr	rs753217768	missense variant	-	NC_000006.12:g.15513294G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala1108Ser	rs753217768	missense variant	-	NC_000006.12:g.15513294G>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His1113Gln	rs200784767	missense variant	-	NC_000006.12:g.15513311C>G	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His1113Gln	rs200784767	missense variant	-	NC_000006.12:g.15513311C>A	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asp1114Ala	rs748965701	missense variant	-	NC_000006.12:g.15513313A>C	ExAC,gnomAD
JARID2	Q92833	p.Asp1114Asn	rs779627462	missense variant	-	NC_000006.12:g.15513312G>A	ExAC,gnomAD
JARID2	Q92833	p.Asp1114His	rs779627462	missense variant	-	NC_000006.12:g.15513312G>C	ExAC,gnomAD
JARID2	Q92833	p.Gly1115Ser	rs1475906919	missense variant	-	NC_000006.12:g.15513315G>A	gnomAD
JARID2	Q92833	p.Thr1118Met	rs747737333	missense variant	-	NC_000006.12:g.15513325C>T	ExAC,gnomAD
JARID2	Q92833	p.Val1119Met	rs1353368639	missense variant	-	NC_000006.12:g.15513327G>A	TOPMed
JARID2	Q92833	p.Ala1120Glu	rs755051913	missense variant	-	NC_000006.12:g.15513331C>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala1120Val	rs755051913	missense variant	-	NC_000006.12:g.15513331C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ala1120Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15513330G>T	NCI-TCGA
JARID2	Q92833	p.Ala1120Thr	COSM1075268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15513330G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Asp1121Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15513333G>A	NCI-TCGA
JARID2	Q92833	p.Gly1122Arg	rs201950093	missense variant	-	NC_000006.12:g.15513336G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys1123Glu	rs1394550939	missense variant	-	NC_000006.12:g.15513339A>G	gnomAD
JARID2	Q92833	p.Lys1125Arg	rs1413964373	missense variant	-	NC_000006.12:g.15513346A>G	TOPMed
JARID2	Q92833	p.Pro1126Leu	COSM3622185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15513349C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Arg1127Gln	rs143923450	missense variant	-	NC_000006.12:g.15513352G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1127Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.15513351C>T	NCI-TCGA
JARID2	Q92833	p.Trp1129Cys	rs373281961	missense variant	-	NC_000006.12:g.15513359G>T	ESP,TOPMed,gnomAD
JARID2	Q92833	p.Gln1131Pro	rs765613492	missense variant	-	NC_000006.12:g.15513364A>C	ExAC,gnomAD
JARID2	Q92833	p.Glu1133Gln	rs1317315542	missense variant	-	NC_000006.12:g.15513369G>C	gnomAD
JARID2	Q92833	p.Thr1134Met	rs377162599	missense variant	-	NC_000006.12:g.15513373C>T	ESP,ExAC,gnomAD
JARID2	Q92833	p.Glu1136Lys	rs1214007093	missense variant	-	NC_000006.12:g.15513378G>A	gnomAD
JARID2	Q92833	p.Cys1139Tyr	rs1447202688	missense variant	-	NC_000006.12:g.15513388G>A	gnomAD
JARID2	Q92833	p.Glu1156Lys	rs1316410441	missense variant	-	NC_000006.12:g.15517176G>A	TOPMed,gnomAD
JARID2	Q92833	p.Glu1156Lys	rs1316410441	missense variant	-	NC_000006.12:g.15517176G>A	NCI-TCGA Cosmic
JARID2	Q92833	p.Val1158Ile	rs757124632	missense variant	-	NC_000006.12:g.15517182G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1167His	rs374387713	missense variant	-	NC_000006.12:g.15517210G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1167Cys	rs756110242	missense variant	-	NC_000006.12:g.15517209C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.His1168Asn	rs749493476	missense variant	-	NC_000006.12:g.15517212C>A	ExAC,gnomAD
JARID2	Q92833	p.Val1169Leu	COSM740316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15517215G>C	NCI-TCGA Cosmic
JARID2	Q92833	p.Lys1173Asn	rs1379068404	missense variant	-	NC_000006.12:g.15517229G>C	TOPMed
JARID2	Q92833	p.Arg1176Leu	rs367941514	missense variant	-	NC_000006.12:g.15517237G>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1176Gln	rs367941514	missense variant	-	NC_000006.12:g.15517237G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1176Ter	rs779240039	stop gained	-	NC_000006.12:g.15517236C>T	ExAC,gnomAD
JARID2	Q92833	p.Leu1180Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15517250G>C	NCI-TCGA
JARID2	Q92833	p.Tyr1184Ter	rs148559500	stop gained	-	NC_000006.12:g.15517262C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asp1185His	rs775113990	missense variant	-	NC_000006.12:g.15517263G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asp1185Asn	rs775113990	missense variant	-	NC_000006.12:g.15517263G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Asp1185Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15517265T>G	NCI-TCGA
JARID2	Q92833	p.Gln1188His	rs1420526352	missense variant	-	NC_000006.12:g.15520074G>C	gnomAD
JARID2	Q92833	p.Ile1189Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15520076T>A	NCI-TCGA
JARID2	Q92833	p.Ser1191Thr	rs752884763	missense variant	-	NC_000006.12:g.15520082G>C	ExAC,gnomAD
JARID2	Q92833	p.Val1193Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.15520087G>A	NCI-TCGA
JARID2	Q92833	p.Asn1194Ser	rs758694722	missense variant	-	NC_000006.12:g.15520091A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Cys1197Tyr	rs779111412	missense variant	-	NC_000006.12:g.15520100G>A	TOPMed,gnomAD
JARID2	Q92833	p.Gly1198Ser	rs1224543280	missense variant	-	NC_000006.12:g.15520102G>A	TOPMed,gnomAD
JARID2	Q92833	p.Val1200Glu	rs554779374	missense variant	-	NC_000006.12:g.15520109T>A	1000Genomes,TOPMed
JARID2	Q92833	p.Val1200Met	rs781746664	missense variant	-	NC_000006.12:g.15520108G>A	ExAC,gnomAD
JARID2	Q92833	p.Val1200Ala	rs554779374	missense variant	-	NC_000006.12:g.15520109T>C	1000Genomes,TOPMed
JARID2	Q92833	p.Ser1201Ala	rs929564203	missense variant	-	NC_000006.12:g.15520111T>G	TOPMed,gnomAD
JARID2	Q92833	p.Gly1202Ala	rs768251933	missense variant	-	NC_000006.12:g.15520115G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Gly1202Ser	rs746409755	missense variant	-	NC_000006.12:g.15520114G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys1203Arg	rs774055865	missense variant	-	NC_000006.12:g.15520118A>G	ExAC,gnomAD
JARID2	Q92833	p.Asn1204Thr	rs747745522	missense variant	-	NC_000006.12:g.15520121A>C	ExAC,gnomAD
JARID2	Q92833	p.Glu1208Asp	rs1177261309	missense variant	-	NC_000006.12:g.15520134G>C	gnomAD
JARID2	Q92833	p.Asn1209Ser	rs772740335	missense variant	-	NC_000006.12:g.15520136A>G	ExAC,gnomAD
JARID2	Q92833	p.Cys1210Ser	rs760457741	missense variant	-	NC_000006.12:g.15520139G>C	ExAC,gnomAD
JARID2	Q92833	p.Pro1214Arg	rs200753446	missense variant	-	NC_000006.12:g.15520151C>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro1216Gln	rs1465586269	missense variant	-	NC_000006.12:g.15520157C>A	gnomAD
JARID2	Q92833	p.Lys1217Glu	rs759507252	missense variant	-	NC_000006.12:g.15520159A>G	ExAC,gnomAD
JARID2	Q92833	p.Lys1217Arg	rs1356371529	missense variant	-	NC_000006.12:g.15520160A>G	gnomAD
JARID2	Q92833	p.Arg1218Ser	rs1339458581	missense variant	-	NC_000006.12:g.15520164A>T	TOPMed
JARID2	Q92833	p.Gly1219Val	rs1187499308	missense variant	-	NC_000006.12:g.15520166G>T	gnomAD
JARID2	Q92833	p.Arg1221His	rs763081488	missense variant	-	NC_000006.12:g.15520172G>A	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1221Gly	rs373598286	missense variant	-	NC_000006.12:g.15520171C>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1221Pro	rs763081488	missense variant	-	NC_000006.12:g.15520172G>C	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1221Cys	rs373598286	missense variant	-	NC_000006.12:g.15520171C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys1222Glu	rs375627312	missense variant	-	NC_000006.12:g.15520174A>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1223Thr	rs146690879	missense variant	-	NC_000006.12:g.15520178G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Arg1223Ser	rs899578639	missense variant	-	NC_000006.12:g.15520179A>C	TOPMed
JARID2	Q92833	p.Ala1224Val	rs769367991	missense variant	-	NC_000006.12:g.15520181C>T	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Val1226Leu	rs1270867464	missense variant	-	NC_000006.12:g.15520186G>C	gnomAD
JARID2	Q92833	p.Asp1227Tyr	rs1418856907	missense variant	-	NC_000006.12:g.15520189G>T	TOPMed
JARID2	Q92833	p.Asp1227Gly	rs902826504	missense variant	-	NC_000006.12:g.15520190A>G	TOPMed
JARID2	Q92833	p.Val1228Met	rs144053937	missense variant	-	NC_000006.12:g.15520192G>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro1229Thr	rs1205823454	missense variant	-	NC_000006.12:g.15520195C>A	TOPMed
JARID2	Q92833	p.Pro1230His	rs553561960	missense variant	-	NC_000006.12:g.15520199C>A	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro1230Thr	rs186488359	missense variant	-	NC_000006.12:g.15520198C>A	1000Genomes,TOPMed
JARID2	Q92833	p.Pro1230Leu	rs553561960	missense variant	-	NC_000006.12:g.15520199C>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro1230Arg	rs553561960	missense variant	-	NC_000006.12:g.15520199C>G	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Pro1230Ser	COSM3859866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15520198C>T	NCI-TCGA Cosmic
JARID2	Q92833	p.Ser1231Cys	rs148364412	missense variant	-	NC_000006.12:g.15520202C>G	1000Genomes,ExAC,gnomAD
JARID2	Q92833	p.Arg1232Cys	rs199675014	missense variant	-	NC_000006.12:g.15520204C>T	1000Genomes,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Leu1233Pro	rs1477665046	missense variant	-	NC_000006.12:g.15520208T>C	gnomAD
JARID2	Q92833	p.Ala1235Thr	rs1185133282	missense variant	-	NC_000006.12:g.15520213G>A	gnomAD
JARID2	Q92833	p.Ser1236Phe	rs1410990224	missense variant	-	NC_000006.12:g.15520217C>T	gnomAD
JARID2	Q92833	p.Ser1238Ter	rs759455782	stop gained	-	NC_000006.12:g.15520223C>A	ExAC,gnomAD
JARID2	Q92833	p.Ser1238Leu	rs759455782	missense variant	-	NC_000006.12:g.15520223C>T	ExAC,gnomAD
JARID2	Q92833	p.Ser1239Phe	rs146408706	missense variant	-	NC_000006.12:g.15520226C>T	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser1239Cys	rs146408706	missense variant	-	NC_000006.12:g.15520226C>G	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser1239Tyr	rs146408706	missense variant	-	NC_000006.12:g.15520226C>A	ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys1240Glu	rs751776983	missense variant	-	NC_000006.12:g.15520228A>G	ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Lys1240Arg	rs761993413	missense variant	-	NC_000006.12:g.15520229A>G	ExAC,gnomAD
JARID2	Q92833	p.Ala1242Val	rs767983996	missense variant	-	NC_000006.12:g.15520235C>T	ExAC,gnomAD
JARID2	Q92833	p.Ser1243Leu	rs201283605	missense variant	-	NC_000006.12:g.15520238C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JARID2	Q92833	p.Ser1245Pro	COSM3859867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.15520243T>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Ala2Gly	rs781349197	missense variant	-	NC_000016.10:g.74607090G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala2Val	rs781349197	missense variant	-	NC_000016.10:g.74607090G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala3Val	rs752535549	missense variant	-	NC_000016.10:g.74607087G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala3Pro	rs1015474542	missense variant	-	NC_000016.10:g.74607088C>G	gnomAD
GLG1	Q92896	p.Ala3Gly	rs752535549	missense variant	-	NC_000016.10:g.74607087G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Cys4Arg	rs371279250	missense variant	-	NC_000016.10:g.74607085A>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Cys4Tyr	rs1269347677	missense variant	-	NC_000016.10:g.74607084C>T	gnomAD
GLG1	Q92896	p.Cys4Gly	rs371279250	missense variant	-	NC_000016.10:g.74607085A>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly5Val	rs760208774	missense variant	-	NC_000016.10:g.74607081C>A	ExAC,gnomAD
GLG1	Q92896	p.Arg6His	rs1196932270	missense variant	-	NC_000016.10:g.74607078C>T	TOPMed,gnomAD
GLG1	Q92896	p.Arg6Gly	rs1257521637	missense variant	-	NC_000016.10:g.74607079G>C	gnomAD
GLG1	Q92896	p.Arg6Leu	rs1196932270	missense variant	-	NC_000016.10:g.74607078C>A	TOPMed,gnomAD
GLG1	Q92896	p.Arg6Cys	rs1257521637	missense variant	-	NC_000016.10:g.74607079G>A	gnomAD
GLG1	Q92896	p.Val7Leu	rs767306994	missense variant	-	NC_000016.10:g.74607076C>A	ExAC,gnomAD
GLG1	Q92896	p.Val7Ile	rs767306994	missense variant	-	NC_000016.10:g.74607076C>T	ExAC,gnomAD
GLG1	Q92896	p.Val7Ala	rs1232965686	missense variant	-	NC_000016.10:g.74607075A>G	TOPMed,gnomAD
GLG1	Q92896	p.Arg8Leu	rs567707138	missense variant	-	NC_000016.10:g.74607072C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg8Pro	rs567707138	missense variant	-	NC_000016.10:g.74607072C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg8Gln	rs567707138	missense variant	-	NC_000016.10:g.74607072C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg8Gly	rs764483025	missense variant	-	NC_000016.10:g.74607073G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg8Trp	rs764483025	missense variant	-	NC_000016.10:g.74607073G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg9Lys	rs1448479743	missense variant	-	NC_000016.10:g.74607069C>T	gnomAD
GLG1	Q92896	p.Arg9Ser	rs745994442	missense variant	-	NC_000016.10:g.74607068C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg9Ser	rs745994442	missense variant	-	NC_000016.10:g.74607068C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg9Gly	rs769807372	missense variant	-	NC_000016.10:g.74607070T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg9Trp	rs769807372	missense variant	-	NC_000016.10:g.74607070T>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Met10Ile	rs1464344146	missense variant	-	NC_000016.10:g.74607065C>A	TOPMed,gnomAD
GLG1	Q92896	p.Met10Leu	rs771156802	missense variant	-	NC_000016.10:g.74607067T>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Met10Leu	rs771156802	missense variant	-	NC_000016.10:g.74607067T>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Met10Val	rs771156802	missense variant	-	NC_000016.10:g.74607067T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Phe11Leu	rs747168387	missense variant	-	NC_000016.10:g.74607062G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Phe11Cys	rs1379159360	missense variant	-	NC_000016.10:g.74607063A>C	gnomAD
GLG1	Q92896	p.Arg12Cys	rs201128650	missense variant	-	NC_000016.10:g.74607061G>A	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg12His	rs1237601743	missense variant	-	NC_000016.10:g.74607060C>T	TOPMed,gnomAD
GLG1	Q92896	p.Leu13Phe	rs754788878	missense variant	-	NC_000016.10:g.74607056C>A	ExAC,gnomAD
GLG1	Q92896	p.Ser14Ala	rs368678359	missense variant	-	NC_000016.10:g.74607055A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser14Leu	rs780009268	missense variant	-	NC_000016.10:g.74607054G>A	ExAC,gnomAD
GLG1	Q92896	p.Ser14Pro	rs368678359	missense variant	-	NC_000016.10:g.74607055A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser14Leu	rs780009268	missense variant	-	NC_000016.10:g.74607054G>A	NCI-TCGA
GLG1	Q92896	p.Ala15Ser	rs755962866	missense variant	-	NC_000016.10:g.74607052C>A	ExAC,gnomAD
GLG1	Q92896	p.Ala15Val	rs749972416	missense variant	-	NC_000016.10:g.74607051G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.His18Pro	rs1448321282	missense variant	-	NC_000016.10:g.74607042T>G	gnomAD
GLG1	Q92896	p.His18Arg	rs1448321282	missense variant	-	NC_000016.10:g.74607042T>C	gnomAD
GLG1	Q92896	p.Ala24Thr	rs764418928	missense variant	-	NC_000016.10:g.74607025C>T	ExAC,gnomAD
GLG1	Q92896	p.Ala24Val	rs763349183	missense variant	-	NC_000016.10:g.74607024G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala25Val	rs1378384247	missense variant	-	NC_000016.10:g.74607021G>A	gnomAD
GLG1	Q92896	p.Gly26Arg	rs1160448076	missense variant	-	NC_000016.10:g.74607019C>T	TOPMed,gnomAD
GLG1	Q92896	p.Gly26Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74607018C>A	NCI-TCGA
GLG1	Q92896	p.Ala27Val	rs775681020	missense variant	-	NC_000016.10:g.74607015G>A	ExAC,gnomAD
GLG1	Q92896	p.Ala27Asp	rs775681020	missense variant	-	NC_000016.10:g.74607015G>T	ExAC,gnomAD
GLG1	Q92896	p.Glu28Lys	rs1187029835	missense variant	-	NC_000016.10:g.74607013C>T	TOPMed,gnomAD
GLG1	Q92896	p.Glu28Gln	rs1187029835	missense variant	-	NC_000016.10:g.74607013C>G	TOPMed,gnomAD
GLG1	Q92896	p.Lys29Asn	rs776697550	missense variant	-	NC_000016.10:g.74607008T>A	ExAC,gnomAD
GLG1	Q92896	p.Lys29Thr	rs759904910	missense variant	-	NC_000016.10:g.74607009T>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys29Arg	rs759904910	missense variant	-	NC_000016.10:g.74607009T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Leu30His	rs1040115753	missense variant	-	NC_000016.10:g.74607006A>T	TOPMed
GLG1	Q92896	p.Pro31Arg	rs1488195727	missense variant	-	NC_000016.10:g.74607003G>C	gnomAD
GLG1	Q92896	p.Gly32Ala	rs1226044065	missense variant	-	NC_000016.10:g.74607000C>G	gnomAD
GLG1	Q92896	p.Gln33His	rs1259480650	missense variant	-	NC_000016.10:g.74606996C>G	TOPMed
GLG1	Q92896	p.Gly34Ser	rs1350693111	missense variant	-	NC_000016.10:g.74606995C>T	gnomAD
GLG1	Q92896	p.Val35Ala	rs1283115896	missense variant	-	NC_000016.10:g.74606991A>G	gnomAD
GLG1	Q92896	p.His36Pro	rs749137740	missense variant	-	NC_000016.10:g.74606988T>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.His36Asp	rs1199814593	missense variant	-	NC_000016.10:g.74606989G>C	TOPMed
GLG1	Q92896	p.Ser37Gly	rs1425362539	missense variant	-	NC_000016.10:g.74606986T>C	TOPMed
GLG1	Q92896	p.Ser37Thr	rs779662444	missense variant	-	NC_000016.10:g.74606985C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly39Cys	rs868213459	missense variant	-	NC_000016.10:g.74606980C>A	gnomAD
GLG1	Q92896	p.Gly39Ser	rs868213459	missense variant	-	NC_000016.10:g.74606980C>T	gnomAD
GLG1	Q92896	p.Pro42Leu	rs1401235403	missense variant	-	NC_000016.10:g.74606970G>A	gnomAD
GLG1	Q92896	p.Ala44Val	rs745729985	missense variant	-	NC_000016.10:g.74606964G>A	ExAC,gnomAD
GLG1	Q92896	p.Asn45Lys	rs780912700	missense variant	-	NC_000016.10:g.74606960G>C	ExAC,gnomAD
GLG1	Q92896	p.Phe46Cys	rs751301270	missense variant	-	NC_000016.10:g.74606958A>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Phe46Tyr	rs751301270	missense variant	-	NC_000016.10:g.74606958A>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Phe46Ser	rs751301270	missense variant	-	NC_000016.10:g.74606958A>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser48Tyr	rs1477697300	missense variant	-	NC_000016.10:g.74606952G>T	gnomAD
GLG1	Q92896	p.Val50Ile	rs760103653	missense variant	-	NC_000016.10:g.74606947C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val50Leu	rs760103653	missense variant	-	NC_000016.10:g.74606947C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly51Val	rs1289839173	missense variant	-	NC_000016.10:g.74606943C>A	gnomAD
GLG1	Q92896	p.Gly54Arg	rs1336381615	missense variant	-	NC_000016.10:g.74606935C>T	gnomAD
GLG1	Q92896	p.Gly55Asp	rs766494895	missense variant	-	NC_000016.10:g.74606931C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly55Arg	rs1273416335	missense variant	-	NC_000016.10:g.74606932C>G	gnomAD
GLG1	Q92896	p.Gly56Arg	rs867111673	missense variant	-	NC_000016.10:g.74606929C>G	TOPMed,gnomAD
GLG1	Q92896	p.Gly56Cys	rs867111673	missense variant	-	NC_000016.10:g.74606929C>A	TOPMed,gnomAD
GLG1	Q92896	p.Gly57Ala	rs927522225	missense variant	-	NC_000016.10:g.74606925C>G	TOPMed
GLG1	Q92896	p.Pro58Leu	rs993441751	missense variant	-	NC_000016.10:g.74606922G>A	TOPMed,gnomAD
GLG1	Q92896	p.Gly60Asp	rs1396869664	missense variant	-	NC_000016.10:g.74606916C>T	TOPMed,gnomAD
GLG1	Q92896	p.Gln62Lys	rs1165842699	missense variant	-	NC_000016.10:g.74606911G>T	gnomAD
GLG1	Q92896	p.Pro64Ser	rs1465322193	missense variant	-	NC_000016.10:g.74606905G>A	gnomAD
GLG1	Q92896	p.Gln65Arg	rs1268189393	missense variant	-	NC_000016.10:g.74606901T>C	gnomAD
GLG1	Q92896	p.Leu66Gln	rs1188620150	missense variant	-	NC_000016.10:g.74606898A>T	gnomAD
GLG1	Q92896	p.Pro67Arg	rs1197575443	missense variant	-	NC_000016.10:g.74606895G>C	gnomAD
GLG1	Q92896	p.Pro67Ser	rs1475972942	missense variant	-	NC_000016.10:g.74606896G>A	TOPMed,gnomAD
GLG1	Q92896	p.Ser70Leu	rs761881073	missense variant	-	NC_000016.10:g.74606886G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln71Lys	rs1197570248	missense variant	-	NC_000016.10:g.74606884G>T	gnomAD
GLG1	Q92896	p.Leu72His	rs1274731254	missense variant	-	NC_000016.10:g.74606880A>T	gnomAD
GLG1	Q92896	p.Gln76Lys	rs769468827	missense variant	-	NC_000016.10:g.74606869G>T	ExAC,gnomAD
GLG1	Q92896	p.Gln78Arg	rs781248538	missense variant	-	NC_000016.10:g.74606862T>C	ExAC,gnomAD
GLG1	Q92896	p.Gln80His	rs374123768	missense variant	-	NC_000016.10:g.74606855T>A	1000Genomes,TOPMed
GLG1	Q92896	p.Gln80Pro	rs377766887	missense variant	-	NC_000016.10:g.74606856T>G	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln81Glu	rs746542614	missense variant	-	NC_000016.10:g.74606854G>C	ExAC,gnomAD
GLG1	Q92896	p.Gln81Lys	rs746542614	missense variant	-	NC_000016.10:g.74606854G>T	ExAC,gnomAD
GLG1	Q92896	p.Gln81Leu	rs1410871895	missense variant	-	NC_000016.10:g.74606853T>A	TOPMed,gnomAD
GLG1	Q92896	p.Gln81His	rs1424906653	missense variant	-	NC_000016.10:g.74606852C>G	TOPMed,gnomAD
GLG1	Q92896	p.Gln82Leu	rs1340690931	missense variant	-	NC_000016.10:g.74606850T>A	TOPMed
GLG1	Q92896	p.Gln83Glu	rs777092859	missense variant	-	NC_000016.10:g.74606848G>C	ExAC,gnomAD
GLG1	Q92896	p.Gln83Ter	rs777092859	stop gained	-	NC_000016.10:g.74606848G>A	ExAC,gnomAD
GLG1	Q92896	p.Gln83Leu	rs1298610882	missense variant	-	NC_000016.10:g.74606847T>A	TOPMed
GLG1	Q92896	p.Pro85Arg	rs758076288	missense variant	-	NC_000016.10:g.74606841G>C	ExAC
GLG1	Q92896	p.Gln86His	rs1171275041	missense variant	-	NC_000016.10:g.74606837C>G	gnomAD
GLG1	Q92896	p.Pro87Ser	rs752289006	missense variant	-	NC_000016.10:g.74606836G>A	ExAC,gnomAD
GLG1	Q92896	p.Pro87Thr	rs752289006	missense variant	-	NC_000016.10:g.74606836G>T	ExAC,gnomAD
GLG1	Q92896	p.Pro88Leu	rs1177437652	missense variant	-	NC_000016.10:g.74606832G>A	TOPMed,gnomAD
GLG1	Q92896	p.Pro88Arg	rs1177437652	missense variant	-	NC_000016.10:g.74606832G>C	TOPMed,gnomAD
GLG1	Q92896	p.Gln89Arg	rs557131415	missense variant	-	NC_000016.10:g.74606829T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Pro90Leu	rs1486345949	missense variant	-	NC_000016.10:g.74606826G>A	TOPMed
GLG1	Q92896	p.Pro91Leu	rs755313574	missense variant	-	NC_000016.10:g.74606823G>A	ExAC,gnomAD
GLG1	Q92896	p.Phe92Leu	rs1434970401	missense variant	-	NC_000016.10:g.74606819G>C	TOPMed
GLG1	Q92896	p.Pro93Ser	rs1380179952	missense variant	-	NC_000016.10:g.74606818G>A	TOPMed
GLG1	Q92896	p.Pro93Ala	rs1380179952	missense variant	-	NC_000016.10:g.74606818G>C	TOPMed
GLG1	Q92896	p.Pro93Leu	rs979158504	missense variant	-	NC_000016.10:g.74606817G>A	TOPMed,gnomAD
GLG1	Q92896	p.Ala94Glu	rs1008502647	missense variant	-	NC_000016.10:g.74606814G>T	gnomAD
GLG1	Q92896	p.Gly96Val	rs536704236	missense variant	-	NC_000016.10:g.74606808C>A	1000Genomes,ExAC
GLG1	Q92896	p.Pro98Ser	rs1239499780	missense variant	-	NC_000016.10:g.74606803G>A	gnomAD
GLG1	Q92896	p.Arg100Trp	rs750527723	missense variant	-	NC_000016.10:g.74606797G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg100Gly	rs750527723	missense variant	-	NC_000016.10:g.74606797G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg100Gln	rs1443217250	missense variant	-	NC_000016.10:g.74606796C>T	gnomAD
GLG1	Q92896	p.Arg101Trp	rs762158143	missense variant	-	NC_000016.10:g.74606794G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly102Glu	rs996021352	missense variant	-	NC_000016.10:g.74606790C>T	TOPMed
GLG1	Q92896	p.Gly103Arg	rs769755263	missense variant	-	NC_000016.10:g.74606788C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala104Thr	rs571035117	missense variant	-	NC_000016.10:g.74606785C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala104Ser	rs571035117	missense variant	-	NC_000016.10:g.74606785C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala104Val	rs771008915	missense variant	-	NC_000016.10:g.74606784G>A	ExAC,gnomAD
GLG1	Q92896	p.Gly105Val	rs777409511	missense variant	-	NC_000016.10:g.74606781C>A	ExAC,gnomAD
GLG1	Q92896	p.Ala106Val	rs78910720	missense variant	-	NC_000016.10:g.74606778G>A	gnomAD
GLG1	Q92896	p.Ala106Gly	rs78910720	missense variant	-	NC_000016.10:g.74606778G>C	gnomAD
GLG1	Q92896	p.Gly107Ser	rs1485908350	missense variant	-	NC_000016.10:g.74606776C>T	gnomAD
GLG1	Q92896	p.Gly108Arg	rs778399502	missense variant	-	NC_000016.10:g.74606773C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly108Glu	rs754584891	missense variant	-	NC_000016.10:g.74606772C>T	ExAC,gnomAD
GLG1	Q92896	p.Trp110Arg	rs780337684	missense variant	-	NC_000016.10:g.74606767A>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys111Arg	rs1194281893	missense variant	-	NC_000016.10:g.74606763T>C	TOPMed
GLG1	Q92896	p.Leu112Val	rs756615761	missense variant	-	NC_000016.10:g.74606761G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala113Val	rs146839377	missense variant	-	NC_000016.10:g.74606757G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu115Asp	rs868323560	missense variant	-	NC_000016.10:g.74606750T>G	TOPMed
GLG1	Q92896	p.Glu116Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74606749C>T	NCI-TCGA
GLG1	Q92896	p.Ser117Phe	rs142467123	missense variant	-	NC_000016.10:g.74606745G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu120Lys	rs751623570	missense variant	-	NC_000016.10:g.74606737C>T	ExAC,gnomAD
GLG1	Q92896	p.Asp121Val	rs148785493	missense variant	-	NC_000016.10:g.74606733T>A	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Thr123Ile	rs1159156143	missense variant	-	NC_000016.10:g.74606727G>A	gnomAD
GLG1	Q92896	p.Thr123Ser	COSM6145520	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74606727G>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Val125Met	rs565382408	missense variant	-	NC_000016.10:g.74606722C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val125Leu	rs565382408	missense variant	-	NC_000016.10:g.74606722C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Cys126Tyr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74606718C>T	NCI-TCGA
GLG1	Q92896	p.Lys128Thr	rs1191349486	missense variant	-	NC_000016.10:g.74606712T>G	TOPMed,gnomAD
GLG1	Q92896	p.Lys128Glu	rs760724849	missense variant	-	NC_000016.10:g.74606713T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Thr130Ser	rs773001663	missense variant	-	NC_000016.10:g.74606706G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser132Arg	rs1048747326	missense variant	-	NC_000016.10:g.74606699G>C	TOPMed,gnomAD
GLG1	Q92896	p.Ser132Thr	rs1216565898	missense variant	-	NC_000016.10:g.74606700C>G	gnomAD
GLG1	Q92896	p.Asn134Asp	rs1271506254	missense variant	-	NC_000016.10:g.74606695T>C	gnomAD
GLG1	Q92896	p.Asn134Ser	rs773800196	missense variant	-	NC_000016.10:g.74606694T>C	ExAC,gnomAD
GLG1	Q92896	p.Asn134ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.74606694T>-	NCI-TCGA
GLG1	Q92896	p.Ala136Ser	rs369890741	missense variant	-	NC_000016.10:g.74606689C>A	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala136Gly	rs746432628	missense variant	-	NC_000016.10:g.74606688G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala136Val	rs746432628	missense variant	-	NC_000016.10:g.74606688G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Leu138Phe	rs757738751	missense variant	-	NC_000016.10:g.74606683G>A	ExAC,gnomAD
GLG1	Q92896	p.Glu139Val	rs200972392	missense variant	-	NC_000016.10:g.74606679T>A	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Cys140Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74606677A>C	NCI-TCGA
GLG1	Q92896	p.Asp143Gly	rs1422599568	missense variant	-	NC_000016.10:g.74606667T>C	gnomAD
GLG1	Q92896	p.Val144Met	rs758761552	missense variant	-	NC_000016.10:g.74606665C>T	ExAC,gnomAD
GLG1	Q92896	p.Val144Ala	rs752956876	missense variant	-	NC_000016.10:g.74606664A>G	ExAC,gnomAD
GLG1	Q92896	p.Val144Ala	rs752956876	missense variant	-	NC_000016.10:g.74606664A>G	NCI-TCGA
GLG1	Q92896	p.Pro147Leu	rs201232267	missense variant	-	NC_000016.10:g.74532152G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asn149Ser	rs372372727	missense variant	-	NC_000016.10:g.74532146T>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu150Lys	rs772667435	missense variant	-	NC_000016.10:g.74532144C>T	ExAC,gnomAD
GLG1	Q92896	p.Ile151Val	rs748259591	missense variant	-	NC_000016.10:g.74532141T>C	ExAC,gnomAD
GLG1	Q92896	p.Ser152Ala	rs1432674717	missense variant	-	NC_000016.10:g.74532138A>C	gnomAD
GLG1	Q92896	p.Ser153Pro	rs778993070	missense variant	-	NC_000016.10:g.74532135A>G	ExAC,gnomAD
GLG1	Q92896	p.Asp154His	rs755158739	missense variant	-	NC_000016.10:g.74532132C>G	ExAC,gnomAD
GLG1	Q92896	p.Asp154Glu	rs2550807	missense variant	-	NC_000016.10:g.74532130G>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asn156Ser	rs147374175	missense variant	-	NC_000016.10:g.74532125T>C	ESP,TOPMed,gnomAD
GLG1	Q92896	p.Asn156Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74532124A>C	NCI-TCGA
GLG1	Q92896	p.His157Arg	rs1417270905	missense variant	-	NC_000016.10:g.74532122T>C	TOPMed
GLG1	Q92896	p.Asn165Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74508903T>C	NCI-TCGA
GLG1	Q92896	p.Leu166Val	rs777605205	missense variant	-	NC_000016.10:g.74508901G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Leu166Val	rs777605205	missense variant	-	NC_000016.10:g.74508901G>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Thr167Ser	rs1159463656	missense variant	-	NC_000016.10:g.74508897G>C	gnomAD
GLG1	Q92896	p.Thr168Ile	rs778941649	missense variant	-	NC_000016.10:g.74508894G>A	ExAC,gnomAD
GLG1	Q92896	p.Thr168Lys	rs778941649	missense variant	-	NC_000016.10:g.74508894G>T	ExAC,gnomAD
GLG1	Q92896	p.Thr168Ala	rs373177669	missense variant	-	NC_000016.10:g.74508895T>C	ESP,ExAC,gnomAD
GLG1	Q92896	p.Asp169Val	rs754824681	missense variant	-	NC_000016.10:g.74508891T>A	ExAC,gnomAD
GLG1	Q92896	p.Asp169Asn	rs1271796244	missense variant	-	NC_000016.10:g.74508892C>T	gnomAD
GLG1	Q92896	p.Pro170Ser	rs752206213	missense variant	-	NC_000016.10:g.74508889G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Pro170Leu	rs755897691	missense variant	-	NC_000016.10:g.74508888G>A	ExAC,gnomAD
GLG1	Q92896	p.Pro170Ala	rs752206213	missense variant	-	NC_000016.10:g.74508889G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Pro170Leu	rs755897691	missense variant	-	NC_000016.10:g.74508888G>A	NCI-TCGA,NCI-TCGA Cosmic
GLG1	Q92896	p.Phe172Leu	rs916762168	missense variant	-	NC_000016.10:g.74508883A>G	TOPMed
GLG1	Q92896	p.Ser174Tyr	rs768039358	missense variant	-	NC_000016.10:g.74508876G>T	ExAC,gnomAD
GLG1	Q92896	p.Ala176Gly	rs762233302	missense variant	-	NC_000016.10:g.74508870G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala176Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74508871C>T	NCI-TCGA
GLG1	Q92896	p.Ala176Val	rs762233302	missense variant	-	NC_000016.10:g.74508870G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg177Lys	rs1417827543	missense variant	-	NC_000016.10:g.74508867C>T	gnomAD
GLG1	Q92896	p.Glu178Gly	rs369683746	missense variant	-	NC_000016.10:g.74508864T>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val179Ala	rs775709143	missense variant	-	NC_000016.10:g.74508861A>G	ExAC,gnomAD
GLG1	Q92896	p.Val179Phe	rs763304867	missense variant	-	NC_000016.10:g.74508862C>A	ExAC,gnomAD
GLG1	Q92896	p.Lys181Arg	rs1175810278	missense variant	-	NC_000016.10:g.74508855T>C	TOPMed
GLG1	Q92896	p.Lys181Gln	rs1469462374	missense variant	-	NC_000016.10:g.74508856T>G	gnomAD
GLG1	Q92896	p.Ser182Phe	rs767297587	missense variant	-	NC_000016.10:g.74508852G>A	gnomAD
GLG1	Q92896	p.Ser182Cys	rs767297587	missense variant	-	NC_000016.10:g.74508852G>C	gnomAD
GLG1	Q92896	p.Ile184Val	rs776803868	missense variant	-	NC_000016.10:g.74508847T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ile184Leu	rs776803868	missense variant	-	NC_000016.10:g.74508847T>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ile184Thr	rs1215048018	missense variant	-	NC_000016.10:g.74508846A>G	gnomAD
GLG1	Q92896	p.Thr185Pro	rs771101760	missense variant	-	NC_000016.10:g.74508844T>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Thr185Arg	rs138850127	missense variant	-	NC_000016.10:g.74508843G>C	ESP,TOPMed,gnomAD
GLG1	Q92896	p.Thr185Ile	rs138850127	missense variant	-	NC_000016.10:g.74508843G>A	ESP,TOPMed,gnomAD
GLG1	Q92896	p.Lys188Glu	rs1437151148	missense variant	-	NC_000016.10:g.74503743T>C	gnomAD
GLG1	Q92896	p.Glu189Val	rs1359199338	missense variant	-	NC_000016.10:g.74503739T>A	gnomAD
GLG1	Q92896	p.Glu189Lys	rs1214461271	missense variant	-	NC_000016.10:g.74503740C>T	TOPMed
GLG1	Q92896	p.Glu189Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74503740C>A	NCI-TCGA
GLG1	Q92896	p.Glu189Lys	rs1214461271	missense variant	-	NC_000016.10:g.74503740C>T	NCI-TCGA
GLG1	Q92896	p.Cys190TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.74503736_74503737insAT	NCI-TCGA
GLG1	Q92896	p.Ala191Ser	rs768320443	missense variant	-	NC_000016.10:g.74503734C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala191Pro	rs768320443	missense variant	-	NC_000016.10:g.74503734C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asp192His	rs749296601	missense variant	-	NC_000016.10:g.74503731C>G	ExAC,gnomAD
GLG1	Q92896	p.Asp192Glu	rs867507481	missense variant	-	NC_000016.10:g.74503729A>C	gnomAD
GLG1	Q92896	p.Asp192Glu	rs867507481	missense variant	-	NC_000016.10:g.74503729A>T	gnomAD
GLG1	Q92896	p.Asp192His	rs749296601	missense variant	-	NC_000016.10:g.74503731C>G	NCI-TCGA,NCI-TCGA Cosmic
GLG1	Q92896	p.Pro194Leu	rs780105388	missense variant	-	NC_000016.10:g.74503724G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Pro194Arg	rs780105388	missense variant	-	NC_000016.10:g.74503724G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val195Phe	rs780788132	missense variant	-	NC_000016.10:g.74503722C>A	ExAC,gnomAD
GLG1	Q92896	p.Tyr199Cys	rs375337803	missense variant	-	NC_000016.10:g.74503709T>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Met200Ile	rs778253245	missense variant	-	NC_000016.10:g.74503705C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Met200Leu	rs751161671	missense variant	-	NC_000016.10:g.74503707T>A	ExAC,gnomAD
GLG1	Q92896	p.Met200Val	rs751161671	missense variant	-	NC_000016.10:g.74503707T>C	ExAC,gnomAD
GLG1	Q92896	p.Val201Leu	rs1315269084	missense variant	-	NC_000016.10:g.74503704C>G	gnomAD
GLG1	Q92896	p.His207Gln	rs765755562	missense variant	-	NC_000016.10:g.74503684G>C	ExAC,gnomAD
GLG1	Q92896	p.Arg208Gln	rs1461879679	missense variant	-	NC_000016.10:g.74503682C>T	TOPMed
GLG1	Q92896	p.Arg208Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74503683G>A	NCI-TCGA
GLG1	Q92896	p.Arg208Gln	rs1461879679	missense variant	-	NC_000016.10:g.74503682C>T	NCI-TCGA Cosmic
GLG1	Q92896	p.Asn210Lys	rs753921101	missense variant	-	NC_000016.10:g.74503675G>C	ExAC,gnomAD
GLG1	Q92896	p.Thr212Ile	rs1288855477	missense variant	-	NC_000016.10:g.74503670G>A	gnomAD
GLG1	Q92896	p.Glu213Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74503668C>A	NCI-TCGA
GLG1	Q92896	p.His217Tyr	rs1428035277	missense variant	-	NC_000016.10:g.74503656G>A	gnomAD
GLG1	Q92896	p.Gln218Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74503653G>A	NCI-TCGA
GLG1	Q92896	p.Thr221Ser	rs766363917	missense variant	-	NC_000016.10:g.74503643G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Met223Leu	rs568663961	missense variant	-	NC_000016.10:g.74503638T>A	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Thr224Met	rs773283993	missense variant	-	NC_000016.10:g.74503634G>A	ExAC,gnomAD
GLG1	Q92896	p.Thr224Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74503635T>C	NCI-TCGA
GLG1	Q92896	p.Ala225Thr	rs1404530247	missense variant	-	NC_000016.10:g.74503632C>T	gnomAD
GLG1	Q92896	p.Ile226Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74503629T>C	NCI-TCGA
GLG1	Q92896	p.Ile227Asn	rs1233131278	missense variant	-	NC_000016.10:g.74503625A>T	TOPMed
GLG1	Q92896	p.Ser229Gly	rs1363511000	missense variant	-	NC_000016.10:g.74503620T>C	gnomAD
GLG1	Q92896	p.Arg232His	rs1291807404	missense variant	-	NC_000016.10:g.74503610C>T	TOPMed
GLG1	Q92896	p.Gly236Cys	rs1260949102	missense variant	-	NC_000016.10:g.74503599C>A	gnomAD
GLG1	Q92896	p.Asp239Gly	rs955149120	missense variant	-	NC_000016.10:g.74503589T>C	TOPMed
GLG1	Q92896	p.Asp240Glu	rs745730108	missense variant	-	NC_000016.10:g.74503585G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asn243Ser	rs1029766738	missense variant	-	NC_000016.10:g.74503577T>C	TOPMed
GLG1	Q92896	p.Ile247Phe	rs1209554393	missense variant	-	NC_000016.10:g.74503566T>A	gnomAD
GLG1	Q92896	p.Ser252Asn	rs1206640667	missense variant	-	NC_000016.10:g.74503550C>T	TOPMed
GLG1	Q92896	p.Ile253Val	rs1334407154	missense variant	-	NC_000016.10:g.74503548T>C	gnomAD
GLG1	Q92896	p.Arg254Gln	rs1219559962	missense variant	-	NC_000016.10:g.74503544C>T	TOPMed
GLG1	Q92896	p.Leu255Ile	rs200265758	missense variant	-	NC_000016.10:g.74503542G>T	1000Genomes,ExAC
GLG1	Q92896	p.Leu255Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74503541A>G	NCI-TCGA
GLG1	Q92896	p.Asp259His	rs1433952223	missense variant	-	NC_000016.10:g.74496644C>G	TOPMed,gnomAD
GLG1	Q92896	p.Gly264Arg	rs756592114	missense variant	-	NC_000016.10:g.74496629C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu265Lys	rs1232799666	missense variant	-	NC_000016.10:g.74496626C>T	TOPMed
GLG1	Q92896	p.Ser268Thr	rs1210811315	missense variant	-	NC_000016.10:g.74496617A>T	gnomAD
GLG1	Q92896	p.Ser268Ala	rs1210811315	missense variant	-	NC_000016.10:g.74496617A>C	gnomAD
GLG1	Q92896	p.Cys269Phe	rs751812778	missense variant	-	NC_000016.10:g.74496613C>A	ExAC,gnomAD
GLG1	Q92896	p.Leu270Phe	COSM4062772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74496609C>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Glu271Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74496608C>A	NCI-TCGA
GLG1	Q92896	p.Gly273Val	rs187061091	missense variant	-	NC_000016.10:g.74496601C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly273Asp	rs187061091	missense variant	-	NC_000016.10:g.74496601C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly273Ser	rs1304498020	missense variant	-	NC_000016.10:g.74496602C>T	gnomAD
GLG1	Q92896	p.Lys276Arg	rs528071772	missense variant	-	NC_000016.10:g.74496592T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys276Thr	rs528071772	missense variant	-	NC_000016.10:g.74496592T>G	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys276Glu	COSM472103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74496593T>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Arg281Gly	rs1312138334	missense variant	-	NC_000016.10:g.74496578T>C	gnomAD
GLG1	Q92896	p.Arg281Thr	rs1029158886	missense variant	-	NC_000016.10:g.74496577C>G	TOPMed
GLG1	Q92896	p.Glu282Ala	rs1377242577	missense variant	-	NC_000016.10:g.74496574T>G	gnomAD
GLG1	Q92896	p.Glu282Asp	rs1174366649	missense variant	-	NC_000016.10:g.74496573T>A	gnomAD
GLG1	Q92896	p.Glu282Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74496575C>A	NCI-TCGA
GLG1	Q92896	p.Pro283His	rs1326805878	missense variant	-	NC_000016.10:g.74496571G>T	gnomAD
GLG1	Q92896	p.Lys284Arg	rs772666561	missense variant	-	NC_000016.10:g.74496568T>C	ExAC,gnomAD
GLG1	Q92896	p.Gln286Glu	rs1473741646	missense variant	-	NC_000016.10:g.74496563G>C	gnomAD
GLG1	Q92896	p.Val287Ile	rs771559359	missense variant	-	NC_000016.10:g.74496560C>T	ExAC,gnomAD
GLG1	Q92896	p.Ser288Thr	rs1187807666	missense variant	-	NC_000016.10:g.74496557A>T	TOPMed,gnomAD
GLG1	Q92896	p.Ser288Ala	rs1187807666	missense variant	-	NC_000016.10:g.74496557A>C	TOPMed,gnomAD
GLG1	Q92896	p.Leu290Val	rs1258942956	missense variant	-	NC_000016.10:g.74496551G>C	gnomAD
GLG1	Q92896	p.Lys292Arg	rs148059780	missense variant	-	NC_000016.10:g.74496544T>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu300Asp	rs1329542060	missense variant	-	NC_000016.10:g.74496519C>G	gnomAD
GLG1	Q92896	p.Ser303Leu	rs749636164	missense variant	-	NC_000016.10:g.74496511G>A	ExAC,gnomAD
GLG1	Q92896	p.Asp305Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74496505T>G	NCI-TCGA
GLG1	Q92896	p.His307Gln	rs1357273416	missense variant	-	NC_000016.10:g.74496498G>C	gnomAD
GLG1	Q92896	p.Arg310Trp	rs1191353427	missense variant	-	NC_000016.10:g.74496491G>A	gnomAD
GLG1	Q92896	p.His311Arg	rs886425243	missense variant	-	NC_000016.10:g.74496487T>C	TOPMed
GLG1	Q92896	p.Phe314Val	rs781181463	missense variant	-	NC_000016.10:g.74496479A>C	ExAC,gnomAD
GLG1	Q92896	p.Arg317Gln	rs757384037	missense variant	-	NC_000016.10:g.74496469C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg317Ter	rs1156992686	stop gained	-	NC_000016.10:g.74496470G>A	gnomAD
GLG1	Q92896	p.Asp318Glu	rs1474466443	missense variant	-	NC_000016.10:g.74496465A>T	gnomAD
GLG1	Q92896	p.Asp318Gly	rs1164635645	missense variant	-	NC_000016.10:g.74496466T>C	TOPMed,gnomAD
GLG1	Q92896	p.Asp319Gly	rs1327064167	missense variant	-	NC_000016.10:g.74496463T>C	TOPMed
GLG1	Q92896	p.Glu321Gly	rs1232628849	missense variant	-	NC_000016.10:g.74496457T>C	gnomAD
GLG1	Q92896	p.Arg322His	rs141204594	missense variant	-	NC_000016.10:g.74496454C>T	ESP,ExAC,gnomAD
GLG1	Q92896	p.Thr327Ile	rs371676824	missense variant	-	NC_000016.10:g.74494830G>A	ExAC,gnomAD
GLG1	Q92896	p.Thr327Lys	rs371676824	missense variant	-	NC_000016.10:g.74494830G>T	ExAC,gnomAD
GLG1	Q92896	p.Gln328Arg	rs540864412	missense variant	-	NC_000016.10:g.74494827T>C	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln328Pro	rs540864412	missense variant	-	NC_000016.10:g.74494827T>G	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln328Lys	rs1453066175	missense variant	-	NC_000016.10:g.74494828G>T	TOPMed,gnomAD
GLG1	Q92896	p.Ala329Pro	rs146586559	missense variant	-	NC_000016.10:g.74494825C>G	ESP,TOPMed
GLG1	Q92896	p.Val334Met	rs1299811563	missense variant	-	NC_000016.10:g.74494810C>T	gnomAD
GLG1	Q92896	p.Asn340Lys	rs757128329	missense variant	-	NC_000016.10:g.74494790G>T	ExAC,gnomAD
GLG1	Q92896	p.Asn340Ile	rs1384606561	missense variant	-	NC_000016.10:g.74494791T>A	TOPMed
GLG1	Q92896	p.Phe343Tyr	rs751069030	missense variant	-	NC_000016.10:g.74494782A>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu345Lys	rs762568138	missense variant	-	NC_000016.10:g.74494777C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser346Thr	rs1222635492	missense variant	-	NC_000016.10:g.74494774A>T	TOPMed
GLG1	Q92896	p.Ser348Asn	rs1207990758	missense variant	-	NC_000016.10:g.74494767C>T	-
GLG1	Q92896	p.Glu349Asp	rs759971478	missense variant	-	NC_000016.10:g.74494763T>G	ExAC,gnomAD
GLG1	Q92896	p.Lys350Asn	rs777081574	missense variant	-	NC_000016.10:g.74494760C>G	ExAC,gnomAD
GLG1	Q92896	p.Cys351Tyr	rs1314024487	missense variant	-	NC_000016.10:g.74493139C>T	gnomAD
GLG1	Q92896	p.Arg352Gln	rs372334370	missense variant	-	NC_000016.10:g.74493136C>T	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala354Val	rs1239382133	missense variant	-	NC_000016.10:g.74493130G>A	gnomAD
GLG1	Q92896	p.Thr356Lys	rs773827034	missense variant	-	NC_000016.10:g.74493124G>T	ExAC,gnomAD
GLG1	Q92896	p.Thr356Ile	rs773827034	missense variant	-	NC_000016.10:g.74493124G>A	ExAC,gnomAD
GLG1	Q92896	p.Thr357Ala	rs1345759794	missense variant	-	NC_000016.10:g.74493122T>C	TOPMed
GLG1	Q92896	p.Arg358Cys	rs1290562843	missense variant	-	NC_000016.10:g.74493119G>A	TOPMed,gnomAD
GLG1	Q92896	p.Lys360Arg	rs772416146	missense variant	-	NC_000016.10:g.74493112T>C	ExAC,gnomAD
GLG1	Q92896	p.Ala363Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74493103G>A	NCI-TCGA
GLG1	Q92896	p.Gln364Arg	rs1355367850	missense variant	-	NC_000016.10:g.74493100T>C	TOPMed,gnomAD
GLG1	Q92896	p.Tyr370Phe	rs1482334767	missense variant	-	NC_000016.10:g.74493082T>A	gnomAD
GLG1	Q92896	p.Ser378Asn	rs774236674	missense variant	-	NC_000016.10:g.74493058C>T	ExAC,gnomAD
GLG1	Q92896	p.Ser378Thr	rs774236674	missense variant	-	NC_000016.10:g.74493058C>G	ExAC,gnomAD
GLG1	Q92896	p.Lys381Arg	rs768926955	missense variant	-	NC_000016.10:g.74493049T>C	ExAC,gnomAD
GLG1	Q92896	p.Lys382Glu	rs1455348816	missense variant	-	NC_000016.10:g.74493047T>C	gnomAD
GLG1	Q92896	p.Tyr383His	rs757021821	missense variant	-	NC_000016.10:g.74493044A>G	ExAC,gnomAD
GLG1	Q92896	p.Arg384Gln	rs777791973	missense variant	-	NC_000016.10:g.74493040C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg384Trp	rs567060713	missense variant	-	NC_000016.10:g.74493041G>A	ExAC,gnomAD
GLG1	Q92896	p.Asn386Ser	rs752260860	missense variant	-	NC_000016.10:g.74493034T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asn386Ile	rs752260860	missense variant	-	NC_000016.10:g.74493034T>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asn389Asp	rs1244736588	missense variant	-	NC_000016.10:g.74493026T>C	TOPMed
GLG1	Q92896	p.Asn389Lys	rs1264130152	missense variant	-	NC_000016.10:g.74493024G>C	TOPMed
GLG1	Q92896	p.Pro391Ala	rs754735513	missense variant	-	NC_000016.10:g.74493020G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Pro391Leu	rs753520485	missense variant	-	NC_000016.10:g.74493019G>A	ExAC,gnomAD
GLG1	Q92896	p.Arg392Gln	rs761150048	missense variant	-	NC_000016.10:g.74493016C>T	ExAC,gnomAD
GLG1	Q92896	p.Ser393Leu	rs752528979	missense variant	-	NC_000016.10:g.74493013G>A	TOPMed,gnomAD
GLG1	Q92896	p.Arg394Cys	COSM2690830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74493011G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Glu395Asp	rs1311134046	missense variant	-	NC_000016.10:g.74493006T>G	gnomAD
GLG1	Q92896	p.Ala396Val	rs1230551501	missense variant	-	NC_000016.10:g.74493004G>A	gnomAD
GLG1	Q92896	p.Arg397Lys	rs971672196	missense variant	-	NC_000016.10:g.74493001C>T	TOPMed,gnomAD
GLG1	Q92896	p.Arg397Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74493001C>A	NCI-TCGA
GLG1	Q92896	p.Leu398Phe	COSM4062770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74492999G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Met403Thr	rs762159317	missense variant	-	NC_000016.10:g.74492983A>G	ExAC,gnomAD
GLG1	Q92896	p.Met403Val	rs1390370482	missense variant	-	NC_000016.10:g.74492984T>C	gnomAD
GLG1	Q92896	p.Met403Ile	rs1460673226	missense variant	-	NC_000016.10:g.74492982C>T	gnomAD
GLG1	Q92896	p.Leu405Met	rs774553671	missense variant	-	NC_000016.10:g.74492978G>T	ExAC,gnomAD
GLG1	Q92896	p.Glu406Ter	rs768602077	stop gained	-	NC_000016.10:g.74492975C>A	ExAC,gnomAD
GLG1	Q92896	p.Ala408Gly	rs763207393	missense variant	-	NC_000016.10:g.74492968G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala408Val	rs763207393	missense variant	-	NC_000016.10:g.74492968G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val409Leu	rs775655830	missense variant	-	NC_000016.10:g.74492966C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val409Ile	rs775655830	missense variant	-	NC_000016.10:g.74492966C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly412Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74492957C>G	NCI-TCGA
GLG1	Q92896	p.Gly412Trp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74492957C>A	NCI-TCGA
GLG1	Q92896	p.Arg413Ter	rs778749401	stop gained	-	NC_000016.10:g.74491213G>A	ExAC,gnomAD
GLG1	Q92896	p.Arg413Gln	rs369029664	missense variant	-	NC_000016.10:g.74491212C>T	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser416Gly	rs1372363846	missense variant	-	NC_000016.10:g.74491204T>C	gnomAD
GLG1	Q92896	p.Glu418Lys	rs1411618912	missense variant	-	NC_000016.10:g.74491198C>T	gnomAD
GLG1	Q92896	p.Cys419Tyr	COSM4062768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74491194C>T	NCI-TCGA Cosmic
GLG1	Q92896	p.Gln420His	rs755893688	missense variant	-	NC_000016.10:g.74491190C>G	ExAC,gnomAD
GLG1	Q92896	p.Gln420Arg	rs1183538029	missense variant	-	NC_000016.10:g.74491191T>C	gnomAD
GLG1	Q92896	p.Gly421Glu	rs1417184964	missense variant	-	NC_000016.10:g.74491188C>T	TOPMed
GLG1	Q92896	p.Gly421Arg	rs1422632481	missense variant	-	NC_000016.10:g.74491189C>T	gnomAD
GLG1	Q92896	p.Met423Leu	rs745493932	missense variant	-	NC_000016.10:g.74491183T>G	ExAC,gnomAD
GLG1	Q92896	p.Leu424Val	rs781657222	missense variant	-	NC_000016.10:g.74491180G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg427Ter	COSM1579473	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74491171G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Arg427Gln	rs757529923	missense variant	-	NC_000016.10:g.74491170C>T	ExAC,gnomAD
GLG1	Q92896	p.Arg428His	rs764599334	missense variant	-	NC_000016.10:g.74491167C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Met431Leu	rs1251581387	missense variant	-	NC_000016.10:g.74491159T>A	TOPMed,gnomAD
GLG1	Q92896	p.Met431Ile	rs1180515964	missense variant	-	NC_000016.10:g.74491157C>A	TOPMed,gnomAD
GLG1	Q92896	p.Glu432Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74491156C>A	NCI-TCGA
GLG1	Q92896	p.Ser435Ala	rs758836765	missense variant	-	NC_000016.10:g.74491147A>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser435Tyr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74491146G>T	NCI-TCGA
GLG1	Q92896	p.Ser437Arg	rs146777426	missense variant	-	NC_000016.10:g.74491139G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser437Asn	rs752841978	missense variant	-	NC_000016.10:g.74491140C>T	ExAC,gnomAD
GLG1	Q92896	p.Glu439Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74491133C>A	NCI-TCGA
GLG1	Q92896	p.Ser443Asn	rs766586113	missense variant	-	NC_000016.10:g.74491122C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser443Arg	rs140582641	missense variant	-	NC_000016.10:g.74491121G>T	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg445Gln	rs573051133	missense variant	-	NC_000016.10:g.74491116C>T	1000Genomes,ExAC,gnomAD
GLG1	Q92896	p.Arg445Gly	rs774135784	missense variant	-	NC_000016.10:g.74491117G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg445Trp	rs774135784	missense variant	-	NC_000016.10:g.74491117G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly446Arg	rs1357550852	missense variant	-	NC_000016.10:g.74491114C>T	TOPMed
GLG1	Q92896	p.Gly446Val	rs749228997	missense variant	-	NC_000016.10:g.74491113C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly446Glu	rs749228997	missense variant	-	NC_000016.10:g.74491113C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu447ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.74491111C>-	NCI-TCGA
GLG1	Q92896	p.Ile448Val	rs915515269	missense variant	-	NC_000016.10:g.74491108T>C	TOPMed
GLG1	Q92896	p.Ile448Thr	COSM6145039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74491107A>G	NCI-TCGA Cosmic
GLG1	Q92896	p.His450Gln	rs1313341380	missense variant	-	NC_000016.10:g.74491100G>C	TOPMed,gnomAD
GLG1	Q92896	p.His450Tyr	rs1008089961	missense variant	-	NC_000016.10:g.74491102G>A	TOPMed
GLG1	Q92896	p.His451Arg	rs1312272369	missense variant	-	NC_000016.10:g.74491098T>C	gnomAD
GLG1	Q92896	p.Ser453Pro	rs775192909	missense variant	-	NC_000016.10:g.74491093A>G	ExAC,gnomAD
GLG1	Q92896	p.Gly454Arg	rs1466713059	missense variant	-	NC_000016.10:g.74491090C>T	TOPMed,gnomAD
GLG1	Q92896	p.His456Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74491083T>A	NCI-TCGA
GLG1	Q92896	p.Arg457Gln	rs745573951	missense variant	-	NC_000016.10:g.74491080C>T	ExAC,gnomAD
GLG1	Q92896	p.Arg457Ter	COSM4903539	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74491081G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Arg457Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74491080C>A	NCI-TCGA
GLG1	Q92896	p.Lys458Asn	rs780737600	missense variant	-	NC_000016.10:g.74491076T>G	ExAC,gnomAD
GLG1	Q92896	p.Gly459Arg	rs1473814580	missense variant	-	NC_000016.10:g.74491075C>G	gnomAD
GLG1	Q92896	p.Arg460Trp	rs1166469066	missense variant	-	NC_000016.10:g.74491072G>A	TOPMed
GLG1	Q92896	p.Leu462Val	rs1400176060	missense variant	-	NC_000016.10:g.74491066G>C	gnomAD
GLG1	Q92896	p.His463Arg	rs758961479	missense variant	-	NC_000016.10:g.74491062T>C	ExAC
GLG1	Q92896	p.Lys467Arg	rs765344269	missense variant	-	NC_000016.10:g.74491050T>C	ExAC,gnomAD
GLG1	Q92896	p.Val468Ile	rs755046655	missense variant	-	NC_000016.10:g.74491048C>T	ExAC,gnomAD
GLG1	Q92896	p.Val468Leu	rs755046655	missense variant	-	NC_000016.10:g.74491048C>G	ExAC,gnomAD
GLG1	Q92896	p.Val469Ile	rs753907702	missense variant	-	NC_000016.10:g.74491045C>T	ExAC,gnomAD
GLG1	Q92896	p.Arg470Leu	rs760881916	missense variant	-	NC_000016.10:g.74491041C>A	ExAC,gnomAD
GLG1	Q92896	p.Arg470Gly	rs766521785	missense variant	-	NC_000016.10:g.74491042G>C	ExAC,gnomAD
GLG1	Q92896	p.Arg470Ter	COSM5933446	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74491042G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Arg470Gln	rs760881916	missense variant	-	NC_000016.10:g.74491041C>T	ExAC,gnomAD
GLG1	Q92896	p.Glu472Asp	rs1292540457	missense variant	-	NC_000016.10:g.74491034C>A	gnomAD
GLG1	Q92896	p.Glu472Val	COSM472100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74491035T>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Gly474Glu	rs1242552396	missense variant	-	NC_000016.10:g.74491029C>T	gnomAD
GLG1	Q92896	p.Leu476Val	rs774350675	missense variant	-	NC_000016.10:g.74491024G>C	ExAC,gnomAD
GLG1	Q92896	p.Leu476Phe	rs774350675	missense variant	-	NC_000016.10:g.74491024G>A	ExAC,gnomAD
GLG1	Q92896	p.Leu476Ile	rs774350675	missense variant	-	NC_000016.10:g.74491024G>T	ExAC,gnomAD
GLG1	Q92896	p.Gly477Ala	rs763033713	missense variant	-	NC_000016.10:g.74491020C>G	ExAC,gnomAD
GLG1	Q92896	p.Gly477Glu	rs763033713	missense variant	-	NC_000016.10:g.74491020C>T	ExAC,gnomAD
GLG1	Q92896	p.Met478Thr	rs1391720635	missense variant	-	NC_000016.10:g.74491017A>G	TOPMed
GLG1	Q92896	p.Met478Ile	rs775536561	missense variant	-	NC_000016.10:g.74491016C>T	ExAC,gnomAD
GLG1	Q92896	p.Asn479Lys	rs769812522	missense variant	-	NC_000016.10:g.74491013G>T	ExAC,gnomAD
GLG1	Q92896	p.Gln482Arg	rs201424825	missense variant	-	NC_000016.10:g.74491005T>C	ExAC,gnomAD
GLG1	Q92896	p.Ala483Val	rs776142455	missense variant	-	NC_000016.10:g.74491002G>A	ExAC,gnomAD
GLG1	Q92896	p.Ala483Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74491002G>T	NCI-TCGA
GLG1	Q92896	p.Thr486Lys	rs908804029	missense variant	-	NC_000016.10:g.74485910G>T	gnomAD
GLG1	Q92896	p.Thr486Ile	rs908804029	missense variant	-	NC_000016.10:g.74485910G>A	gnomAD
GLG1	Q92896	p.Ile488Thr	rs1324733349	missense variant	-	NC_000016.10:g.74485904A>G	gnomAD
GLG1	Q92896	p.Gln489Glu	rs979915946	missense variant	-	NC_000016.10:g.74485902G>C	TOPMed
GLG1	Q92896	p.Asp492Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74485892T>C	NCI-TCGA
GLG1	Q92896	p.Gly494Ala	rs781585464	missense variant	-	NC_000016.10:g.74485886C>G	ExAC,gnomAD
GLG1	Q92896	p.Ala495Glu	rs1320875890	missense variant	-	NC_000016.10:g.74485883G>T	TOPMed
GLG1	Q92896	p.Arg498His	rs752607666	missense variant	-	NC_000016.10:g.74485874C>T	ExAC,gnomAD
GLG1	Q92896	p.Ile499Leu	rs765069347	missense variant	-	NC_000016.10:g.74485872T>G	ExAC
GLG1	Q92896	p.Asp500Val	rs1423948368	missense variant	-	NC_000016.10:g.74485868T>A	gnomAD
GLG1	Q92896	p.Arg501Gln	rs759441082	missense variant	-	NC_000016.10:g.74485865C>T	ExAC,gnomAD
GLG1	Q92896	p.Arg501Ter	COSM1208279	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74485866G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Leu503Met	rs1478859142	missense variant	-	NC_000016.10:g.74485860A>T	TOPMed,gnomAD
GLG1	Q92896	p.Leu503Phe	rs753311750	missense variant	-	NC_000016.10:g.74485858C>G	ExAC,gnomAD
GLG1	Q92896	p.Ile511Leu	rs766190424	missense variant	-	NC_000016.10:g.74485836T>G	ExAC,gnomAD
GLG1	Q92896	p.Gln512His	rs760204175	missense variant	-	NC_000016.10:g.74485831C>A	ExAC,gnomAD
GLG1	Q92896	p.Ile518Met	rs1218674084	missense variant	-	NC_000016.10:g.74485813T>C	gnomAD
GLG1	Q92896	p.Ile518Thr	rs1197486853	missense variant	-	NC_000016.10:g.74485814A>G	TOPMed
GLG1	Q92896	p.Ile518Val	rs1468829395	missense variant	-	NC_000016.10:g.74485815T>C	TOPMed
GLG1	Q92896	p.Ser520Tyr	rs767165122	missense variant	-	NC_000016.10:g.74485808G>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser520Phe	rs767165122	missense variant	-	NC_000016.10:g.74485808G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asp522Glu	rs761448111	missense variant	-	NC_000016.10:g.74485801G>T	ExAC,gnomAD
GLG1	Q92896	p.Met524Leu	rs774634106	missense variant	-	NC_000016.10:g.74485797T>A	ExAC,gnomAD
GLG1	Q92896	p.Met524Lys	rs1284297975	missense variant	-	NC_000016.10:g.74485796A>T	gnomAD
GLG1	Q92896	p.Met524Val	rs774634106	missense variant	-	NC_000016.10:g.74485797T>C	ExAC,gnomAD
GLG1	Q92896	p.Met524Ile	COSM460458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74483124C>T	NCI-TCGA Cosmic
GLG1	Q92896	p.Ile525Asn	rs1281903576	missense variant	-	NC_000016.10:g.74483122A>T	gnomAD
GLG1	Q92896	p.Ile525Val	rs1000111950	missense variant	-	NC_000016.10:g.74483123T>C	gnomAD
GLG1	Q92896	p.Ile525Leu	rs1000111950	missense variant	-	NC_000016.10:g.74483123T>G	gnomAD
GLG1	Q92896	p.Ser527Leu	rs1346064166	missense variant	-	NC_000016.10:g.74483116G>A	TOPMed
GLG1	Q92896	p.His532Arg	rs1390594809	missense variant	-	NC_000016.10:g.74483101T>C	TOPMed,gnomAD
GLG1	Q92896	p.Lys537Asn	rs1411605702	missense variant	-	NC_000016.10:g.74483085C>G	gnomAD
GLG1	Q92896	p.Asp541Asn	rs763398161	missense variant	-	NC_000016.10:g.74483075C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asp541Tyr	rs763398161	missense variant	-	NC_000016.10:g.74483075C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Cys542Ser	COSM6145040	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74483071C>G	NCI-TCGA Cosmic
GLG1	Q92896	p.Glu543Gln	COSM460459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74483069C>G	NCI-TCGA Cosmic
GLG1	Q92896	p.His544Gln	rs1242167418	missense variant	-	NC_000016.10:g.74483064G>C	TOPMed
GLG1	Q92896	p.His544Tyr	rs775658494	missense variant	-	NC_000016.10:g.74483066G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.His544Asp	rs775658494	missense variant	-	NC_000016.10:g.74483066G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg545His	rs1188189376	missense variant	-	NC_000016.10:g.74483062C>T	gnomAD
GLG1	Q92896	p.Arg545Cys	COSM973632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74483063G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Leu546Val	rs1428932503	missense variant	-	NC_000016.10:g.74483060G>C	TOPMed,gnomAD
GLG1	Q92896	p.Leu547Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74483056A>G	NCI-TCGA
GLG1	Q92896	p.Ile553Val	rs771103385	missense variant	-	NC_000016.10:g.74483039T>C	ExAC,gnomAD
GLG1	Q92896	p.Ser554Phe	rs1382907118	missense variant	-	NC_000016.10:g.74483035G>A	gnomAD
GLG1	Q92896	p.Arg555Gln	rs747020388	missense variant	-	NC_000016.10:g.74483032C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg555Trp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74483033G>A	NCI-TCGA
GLG1	Q92896	p.Lys558Gln	rs1194987949	missense variant	-	NC_000016.10:g.74483024T>G	gnomAD
GLG1	Q92896	p.Asp560Gly	rs760826803	missense variant	-	NC_000016.10:g.74480389T>C	ExAC,gnomAD
GLG1	Q92896	p.Pro561Leu	rs773101623	missense variant	-	NC_000016.10:g.74480386G>A	ExAC,gnomAD
GLG1	Q92896	p.Pro561Ser	rs1171415503	missense variant	-	NC_000016.10:g.74480387G>A	TOPMed,gnomAD
GLG1	Q92896	p.Pro561Ala	rs1171415503	missense variant	-	NC_000016.10:g.74480387G>C	TOPMed,gnomAD
GLG1	Q92896	p.Leu563Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74480381G>T	NCI-TCGA
GLG1	Q92896	p.Arg565Gly	rs748301851	missense variant	-	NC_000016.10:g.74480375G>C	ExAC,gnomAD
GLG1	Q92896	p.Arg565Leu	rs750934371	missense variant	-	NC_000016.10:g.74480374C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg565His	rs750934371	missense variant	-	NC_000016.10:g.74480374C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys566Asn	rs745618212	missense variant	-	NC_000016.10:g.74480370C>A	ExAC,gnomAD
GLG1	Q92896	p.Gln568Arg	rs1483756631	missense variant	-	NC_000016.10:g.74480365T>C	gnomAD
GLG1	Q92896	p.Asp570Glu	rs138266921	missense variant	-	NC_000016.10:g.74480358G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asp570Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74480359T>A	NCI-TCGA
GLG1	Q92896	p.Ser572Cys	rs975261201	missense variant	-	NC_000016.10:g.74480353G>C	TOPMed
GLG1	Q92896	p.Arg573Cys	rs964157062	missense variant	-	NC_000016.10:g.74480351G>A	TOPMed
GLG1	Q92896	p.Arg573Gly	COSM435772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74480351G>C	NCI-TCGA Cosmic
GLG1	Q92896	p.His578Arg	rs1223951687	missense variant	-	NC_000016.10:g.74480335T>C	gnomAD
GLG1	Q92896	p.His578Tyr	rs762294481	missense variant	-	NC_000016.10:g.74480336G>A	TOPMed,gnomAD
GLG1	Q92896	p.Gly579Asp	rs764943105	missense variant	-	NC_000016.10:g.74480332C>T	ExAC,gnomAD
GLG1	Q92896	p.Gly579Ser	rs371289738	missense variant	-	NC_000016.10:g.74480333C>T	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Thr583Ser	rs760002573	missense variant	-	NC_000016.10:g.74480320G>C	ExAC,gnomAD
GLG1	Q92896	p.Ser584Gly	rs767002320	missense variant	-	NC_000016.10:g.74480318T>C	ExAC,gnomAD
GLG1	Q92896	p.Phe586Leu	rs773402996	missense variant	-	NC_000016.10:g.74480310A>C	ExAC,gnomAD
GLG1	Q92896	p.Phe586Leu	rs761084200	missense variant	-	NC_000016.10:g.74480312A>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Phe586Tyr	rs1179021401	missense variant	-	NC_000016.10:g.74480311A>T	gnomAD
GLG1	Q92896	p.Met587Val	rs1192512317	missense variant	-	NC_000016.10:g.74480309T>C	TOPMed
GLG1	Q92896	p.Pro588Leu	rs772019911	missense variant	-	NC_000016.10:g.74480305G>A	ExAC,gnomAD
GLG1	Q92896	p.Pro588Arg	rs772019911	missense variant	-	NC_000016.10:g.74480305G>C	ExAC,gnomAD
GLG1	Q92896	p.Gln589Arg	rs1180673289	missense variant	-	NC_000016.10:g.74480302T>C	TOPMed,gnomAD
GLG1	Q92896	p.Gln589His	rs762133445	missense variant	-	NC_000016.10:g.74480301C>G	ExAC,gnomAD
GLG1	Q92896	p.Gly590Val	rs527971006	missense variant	-	NC_000016.10:g.74480299C>A	1000Genomes
GLG1	Q92896	p.Ala591Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74480296G>A	NCI-TCGA
GLG1	Q92896	p.Phe593Leu	rs1482063180	missense variant	-	NC_000016.10:g.74480289G>C	gnomAD
GLG1	Q92896	p.Ser594Cys	rs768813855	missense variant	-	NC_000016.10:g.74480287G>C	ExAC,gnomAD
GLG1	Q92896	p.Cys595Tyr	rs200317310	missense variant	-	NC_000016.10:g.74480284C>T	1000Genomes,ExAC,gnomAD
GLG1	Q92896	p.Ala600Thr	rs1286330291	missense variant	-	NC_000016.10:g.74480270C>T	gnomAD
GLG1	Q92896	p.Tyr601Cys	rs1319061473	missense variant	-	NC_000016.10:g.74480266T>C	TOPMed
GLG1	Q92896	p.Tyr601His	rs746905927	missense variant	-	NC_000016.10:g.74480267A>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Tyr601Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74480266T>A	NCI-TCGA
GLG1	Q92896	p.Thr603Ser	rs777383995	missense variant	-	NC_000016.10:g.74480261T>A	ExAC,gnomAD
GLG1	Q92896	p.Glu605Asp	rs147344844	missense variant	-	NC_000016.10:g.74480253T>A	ESP,gnomAD
GLG1	Q92896	p.Gly607Arg	rs1338956434	missense variant	-	NC_000016.10:g.74480249C>T	TOPMed,gnomAD
GLG1	Q92896	p.Arg612Trp	rs780504813	missense variant	-	NC_000016.10:g.74477527G>A	ExAC,gnomAD
GLG1	Q92896	p.Arg612Gln	rs930772656	missense variant	-	NC_000016.10:g.74477526C>T	gnomAD
GLG1	Q92896	p.Arg612Leu	rs930772656	missense variant	-	NC_000016.10:g.74477526C>A	gnomAD
GLG1	Q92896	p.Arg615Ter	rs1323439519	stop gained	-	NC_000016.10:g.74477518G>A	gnomAD
GLG1	Q92896	p.Arg615Gln	rs750748045	missense variant	-	NC_000016.10:g.74477517C>T	ExAC,gnomAD
GLG1	Q92896	p.Glu617Ala	rs767919725	missense variant	-	NC_000016.10:g.74477511T>G	ExAC,gnomAD
GLG1	Q92896	p.Glu617Lys	COSM704151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74477512C>T	NCI-TCGA Cosmic
GLG1	Q92896	p.Ile621Asn	rs751702966	missense variant	-	NC_000016.10:g.74477499A>T	ExAC,gnomAD
GLG1	Q92896	p.His623Tyr	rs764145316	missense variant	-	NC_000016.10:g.74477494G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln624Glu	rs1169341148	missense variant	-	NC_000016.10:g.74477491G>C	gnomAD
GLG1	Q92896	p.Arg625His	rs369140595	missense variant	-	NC_000016.10:g.74477487C>T	ESP,ExAC,gnomAD
GLG1	Q92896	p.Arg625Leu	rs369140595	missense variant	-	NC_000016.10:g.74477487C>A	ESP,ExAC,gnomAD
GLG1	Q92896	p.Arg625Cys	rs1376818868	missense variant	-	NC_000016.10:g.74477488G>A	gnomAD
GLG1	Q92896	p.Met627Thr	rs1312106735	missense variant	-	NC_000016.10:g.74477481A>G	gnomAD
GLG1	Q92896	p.Met627Val	rs1269528435	missense variant	-	NC_000016.10:g.74477482T>C	TOPMed,gnomAD
GLG1	Q92896	p.Asp628Gly	rs1223315800	missense variant	-	NC_000016.10:g.74477478T>C	gnomAD
GLG1	Q92896	p.Pro633Ser	rs760401925	missense variant	-	NC_000016.10:g.74477464G>A	ExAC,gnomAD
GLG1	Q92896	p.Pro633Ala	COSM1302241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74477464G>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Pro633His	rs1216587552	missense variant	-	NC_000016.10:g.74477463G>T	gnomAD
GLG1	Q92896	p.Ala634Pro	rs1448121110	missense variant	-	NC_000016.10:g.74477461C>G	TOPMed,gnomAD
GLG1	Q92896	p.Gln636Arg	rs1339971783	missense variant	-	NC_000016.10:g.74477454T>C	gnomAD
GLG1	Q92896	p.Asp637Glu	rs202080402	missense variant	-	NC_000016.10:g.74477450A>C	ESP,ExAC,gnomAD
GLG1	Q92896	p.Lys638Asn	rs768247471	missense variant	-	NC_000016.10:g.74477447C>G	ExAC,gnomAD
GLG1	Q92896	p.Ile641Thr	rs1368213578	missense variant	-	NC_000016.10:g.74477439A>G	gnomAD
GLG1	Q92896	p.Asp642Gly	rs1385410502	missense variant	-	NC_000016.10:g.74477436T>C	TOPMed
GLG1	Q92896	p.Asp642Glu	rs949724588	missense variant	-	NC_000016.10:g.74477435A>C	TOPMed,gnomAD
GLG1	Q92896	p.Ser648Gly	rs1416234135	missense variant	-	NC_000016.10:g.74477419T>C	gnomAD
GLG1	Q92896	p.Glu649Ala	rs746221225	missense variant	-	NC_000016.10:g.74477415T>G	ExAC,gnomAD
GLG1	Q92896	p.Glu652GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.74477406T>-	NCI-TCGA
GLG1	Q92896	p.Gln655His	rs752038762	missense variant	-	NC_000016.10:g.74477396C>G	ExAC,gnomAD
GLG1	Q92896	p.Gln655Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74477397T>C	NCI-TCGA
GLG1	Q92896	p.Glu658Asp	rs1322052640	missense variant	-	NC_000016.10:g.74474624C>G	TOPMed
GLG1	Q92896	p.Glu658Val	rs142760132	missense variant	-	NC_000016.10:g.74474625T>A	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asp662Glu	rs1312421298	missense variant	-	NC_000016.10:g.74474612G>T	TOPMed,gnomAD
GLG1	Q92896	p.Asp665Asn	rs1017132061	missense variant	-	NC_000016.10:g.74474605C>T	TOPMed,gnomAD
GLG1	Q92896	p.Asp666Glu	rs752787942	missense variant	-	NC_000016.10:g.74474600G>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val668Leu	rs140352716	missense variant	-	NC_000016.10:g.74474596C>G	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val668Met	rs140352716	missense variant	-	NC_000016.10:g.74474596C>T	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu670Ala	rs1346887416	missense variant	-	NC_000016.10:g.74474589T>G	gnomAD
GLG1	Q92896	p.Asp673His	rs138346895	missense variant	-	NC_000016.10:g.74474581C>G	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asp673Gly	rs751339963	missense variant	-	NC_000016.10:g.74474580T>C	ExAC,gnomAD
GLG1	Q92896	p.Ile674Thr	rs368450618	missense variant	-	NC_000016.10:g.74474577A>G	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val675Ile	rs762941599	missense variant	-	NC_000016.10:g.74474575C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly676Val	rs769325255	missense variant	-	NC_000016.10:g.74474571C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asn677Ser	rs1485131770	missense variant	-	NC_000016.10:g.74474568T>C	gnomAD
GLG1	Q92896	p.Leu681Phe	rs776369045	missense variant	-	NC_000016.10:g.74474555T>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu682Asp	rs770513037	missense variant	-	NC_000016.10:g.74474552T>A	ExAC,gnomAD
GLG1	Q92896	p.Glu682Gln	rs1358612483	missense variant	-	NC_000016.10:g.74474554C>G	TOPMed
GLG1	Q92896	p.Ser683Leu	rs1288897573	missense variant	-	NC_000016.10:g.74474550G>A	gnomAD
GLG1	Q92896	p.Gln687His	rs1470558684	missense variant	-	NC_000016.10:g.74472403T>A	gnomAD
GLG1	Q92896	p.Ile688Ter	NCI-TCGA novel	frameshift	-	NC_000016.10:g.74472402T>-	NCI-TCGA
GLG1	Q92896	p.Ala690ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.74472397T>-	NCI-TCGA
GLG1	Q92896	p.Arg694Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74472383C>T	NCI-TCGA
GLG1	Q92896	p.Pro698His	rs1374659104	missense variant	-	NC_000016.10:g.74472371G>T	TOPMed
GLG1	Q92896	p.Pro698Ala	rs144087440	missense variant	-	NC_000016.10:g.74472372G>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln701Arg	rs756461006	missense variant	-	NC_000016.10:g.74472362T>C	ExAC,gnomAD
GLG1	Q92896	p.Gln701His	rs746063264	missense variant	-	NC_000016.10:g.74472361C>A	ExAC,gnomAD
GLG1	Q92896	p.Gln701Glu	COSM4151409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74472363G>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Gln701Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74472363G>A	NCI-TCGA
GLG1	Q92896	p.Asn702Asp	rs1204072962	missense variant	-	NC_000016.10:g.74472360T>C	gnomAD
GLG1	Q92896	p.Phe703Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74472356A>G	NCI-TCGA
GLG1	Q92896	p.Val707Met	rs745901793	missense variant	-	NC_000016.10:g.74471283C>T	ExAC,gnomAD
GLG1	Q92896	p.Asn710Asp	rs1326251969	missense variant	-	NC_000016.10:g.74471274T>C	gnomAD
GLG1	Q92896	p.Gln711His	rs1316720757	missense variant	-	NC_000016.10:g.74471269C>G	gnomAD
GLG1	Q92896	p.Gln711His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74471269C>A	NCI-TCGA
GLG1	Q92896	p.Gln711Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74471270T>C	NCI-TCGA
GLG1	Q92896	p.Ile712Arg	COSM3988672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74471267A>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Gly715Arg	rs1277699155	missense variant	-	NC_000016.10:g.74471259C>T	gnomAD
GLG1	Q92896	p.Met718Arg	rs1386334234	missense variant	-	NC_000016.10:g.74471249A>C	gnomAD
GLG1	Q92896	p.Met718Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74471248C>T	NCI-TCGA
GLG1	Q92896	p.Glu719Asp	rs748043155	missense variant	-	NC_000016.10:g.74471245C>A	ExAC,gnomAD
GLG1	Q92896	p.Ile722Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74471238T>A	NCI-TCGA
GLG1	Q92896	p.Gln723His	rs1216839670	missense variant	-	NC_000016.10:g.74471233C>G	gnomAD
GLG1	Q92896	p.Gln723Lys	rs1021675067	missense variant	-	NC_000016.10:g.74471235G>T	TOPMed
GLG1	Q92896	p.Asn724Ser	COSM1479095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74471231T>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Lys725Gln	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74471229T>G	NCI-TCGA
GLG1	Q92896	p.Gln727Lys	rs778561029	missense variant	-	NC_000016.10:g.74471223G>T	ExAC,gnomAD
GLG1	Q92896	p.Lys728Asn	rs754994262	missense variant	-	NC_000016.10:g.74471218C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asp729Tyr	rs1474940298	missense variant	-	NC_000016.10:g.74471217C>A	gnomAD
GLG1	Q92896	p.Glu732Lys	rs779930431	missense variant	-	NC_000016.10:g.74471208C>T	ExAC,gnomAD
GLG1	Q92896	p.Ala735Val	rs138106842	missense variant	-	NC_000016.10:g.74471198G>A	ESP,TOPMed
GLG1	Q92896	p.Ala735Asp	rs138106842	missense variant	-	NC_000016.10:g.74471198G>T	ESP,TOPMed
GLG1	Q92896	p.Ile736Val	rs749881414	missense variant	-	NC_000016.10:g.74471196T>C	ExAC,gnomAD
GLG1	Q92896	p.Gly737Arg	rs761364103	missense variant	-	NC_000016.10:g.74471193C>T	ExAC
GLG1	Q92896	p.Val738Ile	rs752016004	missense variant	-	NC_000016.10:g.74471190C>T	ExAC,gnomAD
GLG1	Q92896	p.Phe741Leu	rs1459228189	missense variant	-	NC_000016.10:g.74471179G>C	TOPMed
GLG1	Q92896	p.Phe741Tyr	rs1268728675	missense variant	-	NC_000016.10:g.74471180A>T	gnomAD
GLG1	Q92896	p.Gln742Arg	rs1341674046	missense variant	-	NC_000016.10:g.74471177T>C	gnomAD
GLG1	Q92896	p.Gln742Lys	rs763593485	missense variant	-	NC_000016.10:g.74471178G>T	ExAC,gnomAD
GLG1	Q92896	p.Val744Leu	rs765912729	missense variant	-	NC_000016.10:g.74470073C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg750Gln	rs760108754	missense variant	-	NC_000016.10:g.74470054C>T	ExAC,gnomAD
GLG1	Q92896	p.Arg750Trp	COSM4687108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74470055G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Tyr753Phe	rs770887358	missense variant	-	NC_000016.10:g.74470045T>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Phe755Leu	COSM4062765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74470040A>G	NCI-TCGA Cosmic
GLG1	Q92896	p.Val763Met	rs773331308	missense variant	-	NC_000016.10:g.74470016C>T	ExAC,gnomAD
GLG1	Q92896	p.Val763Leu	rs773331308	missense variant	-	NC_000016.10:g.74470016C>A	ExAC,gnomAD
GLG1	Q92896	p.Lys765Met	rs1280025811	missense variant	-	NC_000016.10:g.74470009T>A	gnomAD
GLG1	Q92896	p.Pro768Arg	rs1477922974	missense variant	-	NC_000016.10:g.74470000G>C	gnomAD
GLG1	Q92896	p.Pro768Ser	rs1190202914	missense variant	-	NC_000016.10:g.74470001G>A	gnomAD
GLG1	Q92896	p.Ile770Leu	rs775256675	missense variant	-	NC_000016.10:g.74469995T>G	ExAC,gnomAD
GLG1	Q92896	p.Lys772Asn	rs139848664	missense variant	-	NC_000016.10:g.74469987C>G	1000Genomes,TOPMed
GLG1	Q92896	p.Lys773Arg	rs946997149	missense variant	-	NC_000016.10:g.74469985T>C	TOPMed
GLG1	Q92896	p.Asp775Glu	rs200006125	missense variant	-	NC_000016.10:g.74469057G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val776Met	rs758175120	missense variant	-	NC_000016.10:g.74469056C>T	ExAC,gnomAD
GLG1	Q92896	p.Val777Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74469052A>C	NCI-TCGA
GLG1	Q92896	p.Ile778Phe	rs1414921273	missense variant	-	NC_000016.10:g.74469050T>A	gnomAD
GLG1	Q92896	p.Leu780Val	rs755322680	missense variant	-	NC_000016.10:g.74469044G>C	ExAC,gnomAD
GLG1	Q92896	p.Thr782Met	rs754176332	missense variant	-	NC_000016.10:g.74469037G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val784Ala	rs1289098724	missense variant	-	NC_000016.10:g.74469031A>G	gnomAD
GLG1	Q92896	p.Val784Met	rs767559754	missense variant	-	NC_000016.10:g.74469032C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val784Leu	rs767559754	missense variant	-	NC_000016.10:g.74469032C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg785His	rs767759663	missense variant	-	NC_000016.10:g.74469028C>T	ExAC,gnomAD
GLG1	Q92896	p.Arg785Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74469029G>A	NCI-TCGA
GLG1	Q92896	p.Asn786Ser	rs764253656	missense variant	-	NC_000016.10:g.74469025T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asp787Tyr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74469023C>A	NCI-TCGA
GLG1	Q92896	p.Gln790Arg	rs1212588372	missense variant	-	NC_000016.10:g.74469013T>C	gnomAD
GLG1	Q92896	p.Gln790Leu	COSM6079607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74469013T>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Ala792Val	rs759263460	missense variant	-	NC_000016.10:g.74469007G>A	ExAC,gnomAD
GLG1	Q92896	p.His795Pro	rs770832106	missense variant	-	NC_000016.10:g.74468998T>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Leu799Val	rs1301400383	missense variant	-	NC_000016.10:g.74468987G>C	gnomAD
GLG1	Q92896	p.Lys800Asn	rs780243422	missense variant	-	NC_000016.10:g.74468982C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg803Met	rs369047663	missense variant	-	NC_000016.10:g.74468974C>A	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg803Ser	rs1174941657	missense variant	-	NC_000016.10:g.74468973C>G	gnomAD
GLG1	Q92896	p.Gln804Pro	COSM973631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74468971T>G	NCI-TCGA Cosmic
GLG1	Q92896	p.Arg806His	rs1023218360	missense variant	-	NC_000016.10:g.74468965C>T	TOPMed,gnomAD
GLG1	Q92896	p.Arg806Cys	COSM5851472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74468966G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Glu808ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.74468960C>-	NCI-TCGA
GLG1	Q92896	p.Thr813Met	rs1377523774	missense variant	-	NC_000016.10:g.74467847G>A	gnomAD
GLG1	Q92896	p.Ile816Val	rs1441089068	missense variant	-	NC_000016.10:g.74467839T>C	TOPMed,gnomAD
GLG1	Q92896	p.Asp821Tyr	rs752993017	missense variant	-	NC_000016.10:g.74467824C>A	ExAC,gnomAD
GLG1	Q92896	p.Asp821Asn	rs752993017	missense variant	-	NC_000016.10:g.74467824C>T	ExAC,gnomAD
GLG1	Q92896	p.Leu822Val	rs145619068	missense variant	-	NC_000016.10:g.74467821G>C	ESP,ExAC,gnomAD
GLG1	Q92896	p.Leu822Ile	rs145619068	missense variant	-	NC_000016.10:g.74467821G>T	ESP,ExAC,gnomAD
GLG1	Q92896	p.Tyr823His	rs1260158329	missense variant	-	NC_000016.10:g.74467818A>G	gnomAD
GLG1	Q92896	p.Asp829His	COSM973630	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74467800C>G	NCI-TCGA Cosmic
GLG1	Q92896	p.Ile830Val	rs767625905	missense variant	-	NC_000016.10:g.74467797T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys831Glu	rs1310333990	missense variant	-	NC_000016.10:g.74467794T>C	gnomAD
GLG1	Q92896	p.Phe833Leu	rs753460729	missense variant	-	NC_000016.10:g.74467786G>T	ExAC,gnomAD
GLG1	Q92896	p.Phe833LeuPheSerTerUnkUnk	COSM1479094	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.74467785_74467786AG>-	NCI-TCGA Cosmic
GLG1	Q92896	p.Ser835Phe	rs1469630719	missense variant	-	NC_000016.10:g.74467781G>A	TOPMed
GLG1	Q92896	p.Ala836Thr	rs187897620	missense variant	-	NC_000016.10:g.74467779C>T	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala836Ser	rs187897620	missense variant	-	NC_000016.10:g.74467779C>A	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val837Leu	rs1397066757	missense variant	-	NC_000016.10:g.74467776C>G	TOPMed,gnomAD
GLG1	Q92896	p.Gly840Val	rs958466451	missense variant	-	NC_000016.10:g.74467766C>A	TOPMed
GLG1	Q92896	p.Gly840Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74467767C>A	NCI-TCGA
GLG1	Q92896	p.Ala842Thr	COSM1379751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74467761C>T	NCI-TCGA Cosmic
GLG1	Q92896	p.Gln843Lys	rs986653844	missense variant	-	NC_000016.10:g.74467758G>T	TOPMed,gnomAD
GLG1	Q92896	p.Ile844Val	rs1425971901	missense variant	-	NC_000016.10:g.74465813T>C	TOPMed
GLG1	Q92896	p.Glu846Lys	rs1364941772	missense variant	-	NC_000016.10:g.74465807C>T	TOPMed,gnomAD
GLG1	Q92896	p.Glu850Lys	rs1170575393	missense variant	-	NC_000016.10:g.74465795C>T	TOPMed
GLG1	Q92896	p.Asn851Ser	rs748323382	missense variant	-	NC_000016.10:g.74465791T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asn851Lys	rs368546504	missense variant	-	NC_000016.10:g.74465790G>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys853Gln	rs755296282	missense variant	-	NC_000016.10:g.74465786T>G	ExAC,gnomAD
GLG1	Q92896	p.Leu855Val	rs143361924	missense variant	-	NC_000016.10:g.74465780G>C	ESP,ExAC,TOPMed
GLG1	Q92896	p.Ser856Gly	rs1319225479	missense variant	-	NC_000016.10:g.74465777T>C	gnomAD
GLG1	Q92896	p.Ser856Asn	rs780387343	missense variant	-	NC_000016.10:g.74465776C>T	ExAC,gnomAD
GLG1	Q92896	p.Arg858Gly	rs375250447	missense variant	-	NC_000016.10:g.74465771G>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg858His	rs201998866	missense variant	-	NC_000016.10:g.74465770C>T	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg858Leu	rs201998866	missense variant	-	NC_000016.10:g.74465770C>A	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Arg858Cys	rs375250447	missense variant	-	NC_000016.10:g.74465771G>A	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Cys859Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74465768A>G	NCI-TCGA
GLG1	Q92896	p.Met871Val	rs1172575257	missense variant	-	NC_000016.10:g.74465732T>C	gnomAD
GLG1	Q92896	p.Met872Val	rs761487266	missense variant	-	NC_000016.10:g.74465729T>C	TOPMed
GLG1	Q92896	p.Met872Leu	rs761487266	missense variant	-	NC_000016.10:g.74465729T>A	TOPMed
GLG1	Q92896	p.Pro874Ala	rs996173163	missense variant	-	NC_000016.10:g.74465723G>C	TOPMed
GLG1	Q92896	p.Glu875Asp	rs752310258	missense variant	-	NC_000016.10:g.74465718C>G	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Thr879Ile	rs1201423470	missense variant	-	NC_000016.10:g.74465707G>A	TOPMed
GLG1	Q92896	p.Met881Ile	rs1248644229	missense variant	-	NC_000016.10:g.74465700C>T	gnomAD
GLG1	Q92896	p.Met881Leu	rs1477112496	missense variant	-	NC_000016.10:g.74465702T>G	gnomAD
GLG1	Q92896	p.Arg882Ser	rs1199807471	missense variant	-	NC_000016.10:g.74465697C>A	gnomAD
GLG1	Q92896	p.Arg882Met	COSM6145042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74465698C>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Arg882Trp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74465699T>A	NCI-TCGA
GLG1	Q92896	p.Gln886His	rs1190822321	missense variant	-	NC_000016.10:g.74465685C>A	TOPMed
GLG1	Q92896	p.Gln886Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74465687G>A	NCI-TCGA
GLG1	Q92896	p.Lys889Gln	rs765956529	missense variant	-	NC_000016.10:g.74465678T>G	ExAC,gnomAD
GLG1	Q92896	p.Arg890Thr	rs1225730209	missense variant	-	NC_000016.10:g.74463478C>G	TOPMed
GLG1	Q92896	p.Pro893Leu	rs746055540	missense variant	-	NC_000016.10:g.74463469G>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Met900Val	rs575198253	missense variant	-	NC_000016.10:g.74463449T>C	1000Genomes,ExAC,gnomAD
GLG1	Q92896	p.Gln902Glu	rs747918199	missense variant	-	NC_000016.10:g.74463443G>C	ExAC,gnomAD
GLG1	Q92896	p.Leu904Trp	COSM704154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74463436A>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Asn907Thr	rs1238618170	missense variant	-	NC_000016.10:g.74463427T>G	TOPMed,gnomAD
GLG1	Q92896	p.Asp914Glu	rs1445016668	missense variant	-	NC_000016.10:g.74463405A>T	TOPMed
GLG1	Q92896	p.Lys916Thr	rs750071246	missense variant	-	NC_000016.10:g.74463400T>G	ExAC,gnomAD
GLG1	Q92896	p.Lys918Gln	rs1229885715	missense variant	-	NC_000016.10:g.74463395T>G	gnomAD
GLG1	Q92896	p.Gln919Glu	rs1263719877	missense variant	-	NC_000016.10:g.74463392G>C	TOPMed
GLG1	Q92896	p.Met920Val	rs1049468169	missense variant	-	NC_000016.10:g.74463389T>C	TOPMed
GLG1	Q92896	p.Ile921Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74463384T>C	NCI-TCGA
GLG1	Q92896	p.Thr922Ser	rs1269569213	missense variant	-	NC_000016.10:g.74463382G>C	gnomAD
GLG1	Q92896	p.Lys923Glu	rs1430713732	missense variant	-	NC_000016.10:g.74463380T>C	TOPMed
GLG1	Q92896	p.Arg924His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74463376C>T	NCI-TCGA
GLG1	Q92896	p.Arg924Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74463377G>A	NCI-TCGA
GLG1	Q92896	p.Gln925Arg	rs763542690	missense variant	-	NC_000016.10:g.74463373T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln925Leu	rs763542690	missense variant	-	NC_000016.10:g.74463373T>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln925His	rs200896820	missense variant	-	NC_000016.10:g.74463372C>G	1000Genomes,ExAC,gnomAD
GLG1	Q92896	p.Thr927Ser	rs865965049	missense variant	-	NC_000016.10:g.74463367G>C	TOPMed
GLG1	Q92896	p.Thr927Ile	rs865965049	missense variant	-	NC_000016.10:g.74463367G>A	TOPMed
GLG1	Q92896	p.Arg933His	rs1398153133	missense variant	-	NC_000016.10:g.74462624C>T	gnomAD
GLG1	Q92896	p.Pro936Ala	rs769709762	missense variant	-	NC_000016.10:g.74462616G>C	ExAC,gnomAD
GLG1	Q92896	p.Pro936Arg	rs745439118	missense variant	-	NC_000016.10:g.74462615G>C	ExAC,gnomAD
GLG1	Q92896	p.Met937Ile	rs368508466	missense variant	-	NC_000016.10:g.74462611C>T	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Met937Thr	rs145421946	missense variant	-	NC_000016.10:g.74462612A>G	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys940Arg	rs1450607684	missense variant	-	NC_000016.10:g.74462603T>C	TOPMed
GLG1	Q92896	p.Asp945Glu	rs1299315204	missense variant	-	NC_000016.10:g.74462587G>C	gnomAD
GLG1	Q92896	p.Pro947Arg	rs1221101437	missense variant	-	NC_000016.10:g.74462582G>C	gnomAD
GLG1	Q92896	p.Phe949Leu	rs746630548	missense variant	-	NC_000016.10:g.74462575G>T	ExAC,gnomAD
GLG1	Q92896	p.His951Gln	rs113910811	missense variant	-	NC_000016.10:g.74462569G>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gly952Ser	rs761056314	missense variant	-	NC_000016.10:g.74462568C>T	TOPMed
GLG1	Q92896	p.Gly952Asp	COSM3512159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74462567C>T	NCI-TCGA Cosmic
GLG1	Q92896	p.Thr955Ile	rs1332672616	missense variant	-	NC_000016.10:g.74462558G>A	gnomAD
GLG1	Q92896	p.Lys956Glu	rs758845494	missense variant	-	NC_000016.10:g.74462556T>C	ExAC,gnomAD
GLG1	Q92896	p.Lys958Asn	rs973020736	missense variant	-	NC_000016.10:g.74462548C>G	TOPMed
GLG1	Q92896	p.Ser961Leu	rs1177620380	missense variant	-	NC_000016.10:g.74462540G>A	gnomAD
GLG1	Q92896	p.Leu963Phe	rs753037950	missense variant	-	NC_000016.10:g.74462533T>G	ExAC,gnomAD
GLG1	Q92896	p.Gln966Glu	rs534347421	missense variant	-	NC_000016.10:g.74462526G>C	1000Genomes
GLG1	Q92896	p.Ile968Val	rs141820227	missense variant	-	NC_000016.10:g.74462520T>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys972Arg	rs766448818	missense variant	-	NC_000016.10:g.74462507T>C	ExAC
GLG1	Q92896	p.Arg974Gly	rs1254261711	missense variant	-	NC_000016.10:g.74462502T>C	gnomAD
GLG1	Q92896	p.Asp977Gly	rs200113628	missense variant	-	NC_000016.10:g.74462492T>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln978Glu	rs1476627398	missense variant	-	NC_000016.10:g.74462490G>C	TOPMed
GLG1	Q92896	p.Arg979His	rs747801657	missense variant	-	NC_000016.10:g.74462194C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser982Thr	rs1375302958	missense variant	-	NC_000016.10:g.74462186A>T	gnomAD
GLG1	Q92896	p.Asp983Asn	rs1262764213	missense variant	-	NC_000016.10:g.74462183C>T	gnomAD
GLG1	Q92896	p.Asp983Glu	rs773831791	missense variant	-	NC_000016.10:g.74462181G>T	ExAC,gnomAD
GLG1	Q92896	p.Asp983His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74462183C>G	NCI-TCGA
GLG1	Q92896	p.Asp986Glu	rs749555587	missense variant	-	NC_000016.10:g.74462172G>C	ExAC,gnomAD
GLG1	Q92896	p.Gln987Glu	rs1026760684	missense variant	-	NC_000016.10:g.74462171G>C	TOPMed
GLG1	Q92896	p.Ile988Phe	rs1317849773	missense variant	-	NC_000016.10:g.74462168T>A	gnomAD
GLG1	Q92896	p.Arg989Gly	rs1027430393	missense variant	-	NC_000016.10:g.74462165G>C	TOPMed,gnomAD
GLG1	Q92896	p.Arg989Gln	rs147773944	missense variant	-	NC_000016.10:g.74462164C>T	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ile990Val	rs969115942	missense variant	-	NC_000016.10:g.74462162T>C	TOPMed,gnomAD
GLG1	Q92896	p.Ile992Thr	rs1180477200	missense variant	-	NC_000016.10:g.74462155A>G	TOPMed
GLG1	Q92896	p.Glu994Asp	rs756611706	missense variant	-	NC_000016.10:g.74462148C>A	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala996Ser	rs781231415	missense variant	-	NC_000016.10:g.74462144C>A	ExAC,gnomAD
GLG1	Q92896	p.Asp998Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74462136G>T	NCI-TCGA
GLG1	Q92896	p.Arg1000His	rs1421527712	missense variant	-	NC_000016.10:g.74462131C>T	TOPMed
GLG1	Q92896	p.Arg1000Cys	rs751838596	missense variant	-	NC_000016.10:g.74462132G>A	ExAC,gnomAD
GLG1	Q92896	p.Leu1005Phe	rs1171540912	missense variant	-	NC_000016.10:g.74462117G>A	TOPMed
GLG1	Q92896	p.Cys1009Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74462104C>A	NCI-TCGA
GLG1	Q92896	p.Asp1011His	rs772888029	missense variant	-	NC_000016.10:g.74462099C>G	ExAC,gnomAD
GLG1	Q92896	p.Ser1014Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74459785G>C	NCI-TCGA
GLG1	Q92896	p.Ser1015Gly	rs763867401	missense variant	-	NC_000016.10:g.74459783T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Glu1019Asp	rs775876392	missense variant	-	NC_000016.10:g.74459769T>G	ExAC,gnomAD
GLG1	Q92896	p.Glu1020Gln	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74459768C>G	NCI-TCGA
GLG1	Q92896	p.Ala1022Val	rs770175823	missense variant	-	NC_000016.10:g.74459761G>A	ExAC,gnomAD
GLG1	Q92896	p.Gln1024Arg	rs371138692	missense variant	-	NC_000016.10:g.74459755T>C	ESP,ExAC,gnomAD
GLG1	Q92896	p.Thr1027Ile	rs777137595	missense variant	-	NC_000016.10:g.74459746G>A	ExAC,gnomAD
GLG1	Q92896	p.Gln1029Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74459741G>T	NCI-TCGA
GLG1	Q92896	p.Glu1031Gln	rs1223550338	missense variant	-	NC_000016.10:g.74459735C>G	TOPMed
GLG1	Q92896	p.Asn1037Thr	rs150531743	missense variant	-	NC_000016.10:g.74459716T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asn1037Ser	rs150531743	missense variant	-	NC_000016.10:g.74459716T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Leu1039Pro	rs1179301380	missense variant	-	NC_000016.10:g.74459710A>G	TOPMed
GLG1	Q92896	p.Lys1042Arg	rs367640450	missense variant	-	NC_000016.10:g.74459701T>C	ESP,ExAC,gnomAD
GLG1	Q92896	p.Glu1044Lys	rs1280449240	missense variant	-	NC_000016.10:g.74459696C>T	gnomAD
GLG1	Q92896	p.Glu1044Gly	rs963467073	missense variant	-	NC_000016.10:g.74459695T>C	TOPMed,gnomAD
GLG1	Q92896	p.Glu1044Ala	rs963467073	missense variant	-	NC_000016.10:g.74459695T>G	TOPMed,gnomAD
GLG1	Q92896	p.Leu1045Phe	rs755981823	missense variant	-	NC_000016.10:g.74459691C>A	ExAC,gnomAD
GLG1	Q92896	p.Leu1045Trp	COSM973625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74459692A>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Lys1047Asn	rs757131915	missense variant	-	NC_000016.10:g.74459685T>A	ExAC,gnomAD
GLG1	Q92896	p.Lys1047Arg	rs781255449	missense variant	-	NC_000016.10:g.74459686T>C	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Lys1047Glu	rs750174462	missense variant	-	NC_000016.10:g.74459687T>C	ExAC,gnomAD
GLG1	Q92896	p.Lys1048Arg	rs751132753	missense variant	-	NC_000016.10:g.74459683T>C	ExAC,gnomAD
GLG1	Q92896	p.Asn1052Asp	rs1468847274	missense variant	-	NC_000016.10:g.74457985T>C	gnomAD
GLG1	Q92896	p.Met1053Ile	rs762049136	missense variant	-	NC_000016.10:g.74457980C>G	ExAC,gnomAD
GLG1	Q92896	p.Met1053Ile	rs762049136	missense variant	-	NC_000016.10:g.74457980C>T	ExAC,gnomAD
GLG1	Q92896	p.Ser1057Asn	rs774557014	missense variant	-	NC_000016.10:g.74457969C>T	ExAC,gnomAD
GLG1	Q92896	p.Ala1059Gly	rs989128353	missense variant	-	NC_000016.10:g.74457963G>C	TOPMed,gnomAD
GLG1	Q92896	p.Ile1061Val	rs1297847068	missense variant	-	NC_000016.10:g.74457958T>C	TOPMed,gnomAD
GLG1	Q92896	p.Asp1064His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74457949C>G	NCI-TCGA
GLG1	Q92896	p.Leu1067Ile	rs1367251345	missense variant	-	NC_000016.10:g.74457940G>T	gnomAD
GLG1	Q92896	p.Thr1069Ile	rs1013545960	missense variant	-	NC_000016.10:g.74457933G>A	gnomAD
GLG1	Q92896	p.Thr1069Asn	rs1013545960	missense variant	-	NC_000016.10:g.74457933G>T	gnomAD
GLG1	Q92896	p.Asp1074Gly	rs749443244	missense variant	-	NC_000016.10:g.74457918T>C	ExAC,gnomAD
GLG1	Q92896	p.Asp1074Ala	rs749443244	missense variant	-	NC_000016.10:g.74457918T>G	ExAC,gnomAD
GLG1	Q92896	p.Ile1075Val	rs775744242	missense variant	-	NC_000016.10:g.74457916T>C	ExAC,gnomAD
GLG1	Q92896	p.His1077Tyr	rs770658501	missense variant	-	NC_000016.10:g.74457910G>A	ExAC,gnomAD
GLG1	Q92896	p.His1078Asn	rs746761471	missense variant	-	NC_000016.10:g.74457907G>T	ExAC,gnomAD
GLG1	Q92896	p.Ala1080Pro	rs1432226434	missense variant	-	NC_000016.10:g.74457901C>G	TOPMed,gnomAD
GLG1	Q92896	p.Ala1081Pro	rs1413275463	missense variant	-	NC_000016.10:g.74457898C>G	TOPMed
GLG1	Q92896	p.Thr1083Asn	rs895046408	missense variant	-	NC_000016.10:g.74457891G>T	TOPMed,gnomAD
GLG1	Q92896	p.Arg1086His	rs1195239156	missense variant	-	NC_000016.10:g.74457882C>T	TOPMed,gnomAD
GLG1	Q92896	p.Gly1087Arg	COSM3691170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74457880C>T	NCI-TCGA Cosmic
GLG1	Q92896	p.Arg1088Cys	rs1237374518	missense variant	-	NC_000016.10:g.74457877G>A	gnomAD
GLG1	Q92896	p.Arg1088His	rs778360585	missense variant	-	NC_000016.10:g.74457876C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Gln1089Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.74457874G>A	NCI-TCGA
GLG1	Q92896	p.Met1090Val	rs1380355868	missense variant	-	NC_000016.10:g.74456753T>C	TOPMed
GLG1	Q92896	p.Leu1097Val	rs1163496699	missense variant	-	NC_000016.10:g.74456732G>C	TOPMed
GLG1	Q92896	p.Asp1099Tyr	rs1389206382	missense variant	-	NC_000016.10:g.74456726C>A	TOPMed
GLG1	Q92896	p.Lys1100Arg	rs752137514	missense variant	-	NC_000016.10:g.74456722T>C	ExAC,gnomAD
GLG1	Q92896	p.Arg1101Trp	rs764642460	missense variant	-	NC_000016.10:g.74456720G>A	ExAC,gnomAD
GLG1	Q92896	p.Arg1101Gln	rs756083275	missense variant	-	NC_000016.10:g.74456719C>T	ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val1102Leu	rs1215648714	missense variant	-	NC_000016.10:g.74456717C>A	TOPMed,gnomAD
GLG1	Q92896	p.Val1102Met	rs1215648714	missense variant	-	NC_000016.10:g.74456717C>T	TOPMed,gnomAD
GLG1	Q92896	p.Leu1104Ile	rs752818912	missense variant	-	NC_000016.10:g.74456711A>T	ExAC,gnomAD
GLG1	Q92896	p.Glu1107Lys	rs1203720881	missense variant	-	NC_000016.10:g.74456702C>T	gnomAD
GLG1	Q92896	p.Glu1107Asp	rs1487029919	missense variant	-	NC_000016.10:g.74456700C>G	TOPMed,gnomAD
GLG1	Q92896	p.Lys1109Arg	rs776791714	missense variant	-	NC_000016.10:g.74456695T>C	ExAC,gnomAD
GLG1	Q92896	p.Arg1111Cys	rs1244624471	missense variant	-	NC_000016.10:g.74456690G>A	gnomAD
GLG1	Q92896	p.Arg1111His	rs1320448003	missense variant	-	NC_000016.10:g.74456689C>T	gnomAD
GLG1	Q92896	p.Asn1113Ser	rs144493700	missense variant	-	NC_000016.10:g.74456683T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asn1113Ile	rs144493700	missense variant	-	NC_000016.10:g.74456683T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Asp1114Glu	rs1245344736	missense variant	-	NC_000016.10:g.74456679G>C	TOPMed
GLG1	Q92896	p.Asp1114Glu	rs1245344736	missense variant	-	NC_000016.10:g.74456679G>T	TOPMed
GLG1	Q92896	p.Asp1114Tyr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74456681C>A	NCI-TCGA
GLG1	Q92896	p.Met1118Leu	rs748804550	missense variant	-	NC_000016.10:g.74456669T>A	ExAC,gnomAD
GLG1	Q92896	p.Trp1119Gly	COSM973624	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74456666A>C	NCI-TCGA Cosmic
GLG1	Q92896	p.Ser1120Asn	rs1358412516	missense variant	-	NC_000016.10:g.74456662C>T	TOPMed
GLG1	Q92896	p.Tyr1121Ter	rs9945	stop gained	-	NC_000016.10:g.74456658G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ala1122Thr	rs769374846	missense variant	-	NC_000016.10:g.74456657C>T	ExAC,gnomAD
GLG1	Q92896	p.Ala1122Ser	rs769374846	missense variant	-	NC_000016.10:g.74456657C>A	ExAC,gnomAD
GLG1	Q92896	p.Val1125Leu	rs1197092447	missense variant	-	NC_000016.10:g.74453334C>A	gnomAD
GLG1	Q92896	p.Pro1127GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.74453327G>-	NCI-TCGA
GLG1	Q92896	p.Ala1128Val	COSM4916123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453324G>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Phe1131Leu	COSM973623	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453314G>T	NCI-TCGA Cosmic
GLG1	Q92896	p.Asp1133Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74453309T>C	NCI-TCGA
GLG1	Q92896	p.Met1136Val	rs146317088	missense variant	-	NC_000016.10:g.74453301T>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Val1138Ile	rs141950021	missense variant	-	NC_000016.10:g.74453295C>T	ESP
GLG1	Q92896	p.Met1139Ile	rs1372852503	missense variant	-	NC_000016.10:g.74453290C>G	gnomAD
GLG1	Q92896	p.Met1139Ile	COSM275302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453290C>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Thr1140Ala	rs1303896372	missense variant	-	NC_000016.10:g.74453289T>C	gnomAD
GLG1	Q92896	p.Thr1140Met	rs568296844	missense variant	-	NC_000016.10:g.74453288G>A	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Thr1140Lys	rs568296844	missense variant	-	NC_000016.10:g.74453288G>T	1000Genomes,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser1143Phe	rs753268599	missense variant	-	NC_000016.10:g.74453279G>A	ExAC,gnomAD
GLG1	Q92896	p.Asn1145Lys	rs1397341177	missense variant	-	NC_000016.10:g.74453272G>C	gnomAD
GLG1	Q92896	p.Asn1145Ser	rs1393254050	missense variant	-	NC_000016.10:g.74453273T>C	gnomAD
GLG1	Q92896	p.Tyr1146Cys	rs1172161912	missense variant	-	NC_000016.10:g.74453270T>C	gnomAD
GLG1	Q92896	p.Ile1147Val	rs1424899251	missense variant	-	NC_000016.10:g.74453268T>C	TOPMed
GLG1	Q92896	p.Leu1148Val	rs755054201	missense variant	-	NC_000016.10:g.74453265G>C	ExAC,gnomAD
GLG1	Q92896	p.Leu1148Ile	COSM3818542	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453265G>T	NCI-TCGA Cosmic
GLG1	Q92896	p.Ser1149Cys	rs1174727930	missense variant	-	NC_000016.10:g.74453261G>C	gnomAD
GLG1	Q92896	p.Val1150Met	rs753910872	missense variant	-	NC_000016.10:g.74453259C>T	ExAC,gnomAD
GLG1	Q92896	p.Ile1151Met	rs372790552	missense variant	-	NC_000016.10:g.74453254G>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ser1152Thr	rs756303136	missense variant	-	NC_000016.10:g.74453252C>G	ExAC,gnomAD
GLG1	Q92896	p.Ser1152Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74453252C>T	NCI-TCGA
GLG1	Q92896	p.Ile1155Thr	rs751393740	missense variant	-	NC_000016.10:g.74453243A>G	ExAC,gnomAD
GLG1	Q92896	p.Ile1155Met	rs1254903803	missense variant	-	NC_000016.10:g.74453242G>C	TOPMed,gnomAD
GLG1	Q92896	p.Cys1156Phe	COSM4062761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453240C>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Ile1157Val	rs374337926	missense variant	-	NC_000016.10:g.74453238T>C	ESP,ExAC,TOPMed,gnomAD
GLG1	Q92896	p.Ile1157Met	rs762610257	missense variant	-	NC_000016.10:g.74453236T>C	ExAC,gnomAD
GLG1	Q92896	p.Phe1159Leu	rs1280777288	missense variant	-	NC_000016.10:g.74453230G>T	gnomAD
GLG1	Q92896	p.Ile1161Thr	rs1239232550	missense variant	-	NC_000016.10:g.74453225A>G	gnomAD
GLG1	Q92896	p.Gly1162Cys	COSM6145043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.74453223C>A	NCI-TCGA Cosmic
GLG1	Q92896	p.Gly1162TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.74453223_74453224insA	NCI-TCGA
GLG1	Q92896	p.Met1164Ile	rs765021736	missense variant	-	NC_000016.10:g.74453215C>T	ExAC,gnomAD
GLG1	Q92896	p.Met1164Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.74453217T>C	NCI-TCGA
GLG1	Q92896	p.Arg1167Trp	rs1312354993	missense variant	-	NC_000016.10:g.74453208G>A	gnomAD
GLG1	Q92896	p.Ile1168Val	rs1358770819	missense variant	-	NC_000016.10:g.74453205T>C	TOPMed
GLG1	Q92896	p.Arg1171Gln	rs776268767	missense variant	-	NC_000016.10:g.74453195C>T	ExAC,gnomAD
GLG1	Q92896	p.Arg1174Ter	rs1313842398	stop gained	-	NC_000016.10:g.74453187G>A	gnomAD
GLG1	Q92896	p.Arg1174Gln	rs770757693	missense variant	-	NC_000016.10:g.74453186C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.His2Asn	rs1243679715	missense variant	-	NC_000019.10:g.917506C>A	gnomAD
KISS1R	Q969F8	p.Thr3Ala	rs1339278254	missense variant	-	NC_000019.10:g.917509A>G	gnomAD
KISS1R	Q969F8	p.Thr6Lys	rs1417296708	missense variant	-	NC_000019.10:g.917519C>A	gnomAD
KISS1R	Q969F8	p.Ser7Cys	rs200181141	missense variant	-	NC_000019.10:g.917522C>G	1000Genomes,gnomAD
KISS1R	Q969F8	p.Gly8Arg	rs1393776697	missense variant	-	NC_000019.10:g.917524G>C	gnomAD
KISS1R	Q969F8	p.Gly8Arg	rs1393776697	missense variant	-	NC_000019.10:g.917524G>A	gnomAD
KISS1R	Q969F8	p.Pro9Thr	rs1346230484	missense variant	-	NC_000019.10:g.917527C>A	gnomAD
KISS1R	Q969F8	p.Pro9Ser	rs1346230484	missense variant	-	NC_000019.10:g.917527C>T	gnomAD
KISS1R	Q969F8	p.Asn10Ser	rs753548042	missense variant	-	NC_000019.10:g.917531A>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala11Ser	rs1357944146	missense variant	-	NC_000019.10:g.917533G>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala11Glu	rs1234398387	missense variant	-	NC_000019.10:g.917534C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala11Thr	rs1357944146	missense variant	-	NC_000019.10:g.917533G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Ser12Phe	rs1333502246	missense variant	-	NC_000019.10:g.917537C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Trp13Leu	rs1285905457	missense variant	-	NC_000019.10:g.917540G>T	gnomAD
KISS1R	Q969F8	p.Gly14Glu	rs754727417	missense variant	-	NC_000019.10:g.917543G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Ala15Ser	rs1260704824	missense variant	-	NC_000019.10:g.917545G>T	gnomAD
KISS1R	Q969F8	p.Ala15Glu	rs956206302	missense variant	-	NC_000019.10:g.917546C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro16Arg	rs756986700	missense variant	-	NC_000019.10:g.917549C>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro16Leu	rs756986700	missense variant	-	NC_000019.10:g.917549C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala17Thr	rs1417306225	missense variant	-	NC_000019.10:g.917551G>A	gnomAD
KISS1R	Q969F8	p.Ser20Thr	rs914705868	missense variant	-	NC_000019.10:g.917560T>A	TOPMed
KISS1R	Q969F8	p.Ser20Ala	rs914705868	missense variant	-	NC_000019.10:g.917560T>G	TOPMed
KISS1R	Q969F8	p.Cys22Phe	rs1474265172	missense variant	-	NC_000019.10:g.917567G>T	gnomAD
KISS1R	Q969F8	p.Pro23Gln	rs1160308248	missense variant	-	NC_000019.10:g.917570C>A	gnomAD
KISS1R	Q969F8	p.Gly24Asp	rs1409005527	missense variant	-	NC_000019.10:g.917573G>A	gnomAD
KISS1R	Q969F8	p.Cys25Tyr	rs1157421470	missense variant	-	NC_000019.10:g.917576G>A	gnomAD
KISS1R	Q969F8	p.Ala27Thr	rs757918057	missense variant	-	NC_000019.10:g.917581G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Ala27Ser	rs757918057	missense variant	-	NC_000019.10:g.917581G>T	ExAC,gnomAD
KISS1R	Q969F8	p.Ala27Gly	rs557161844	missense variant	-	NC_000019.10:g.917582C>G	1000Genomes
KISS1R	Q969F8	p.Gly32Ser	rs368188463	missense variant	-	NC_000019.10:g.917596G>A	ESP,TOPMed,gnomAD
KISS1R	Q969F8	p.Gly32Val	rs746331693	missense variant	-	NC_000019.10:g.917597G>T	ExAC,gnomAD
KISS1R	Q969F8	p.Gly32Arg	rs368188463	missense variant	-	NC_000019.10:g.917596G>C	ESP,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro33Leu	rs1291209113	missense variant	-	NC_000019.10:g.917600C>T	TOPMed
KISS1R	Q969F8	p.Pro35His	rs770166092	missense variant	-	NC_000019.10:g.917606C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro35Leu	rs770166092	missense variant	-	NC_000019.10:g.917606C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro37Ser	rs1280725412	missense variant	-	NC_000019.10:g.917611C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg38Trp	rs1222810176	missense variant	-	NC_000019.10:g.917614C>T	gnomAD
KISS1R	Q969F8	p.Arg38Pro	rs1283668884	missense variant	-	NC_000019.10:g.917615G>C	gnomAD
KISS1R	Q969F8	p.Ala39Val	rs1211595756	missense variant	-	NC_000019.10:g.917618C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Asp41Asn	rs768932876	missense variant	-	NC_000019.10:g.917623G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Trp43Arg	rs1469857955	missense variant	-	NC_000019.10:g.917629T>C	gnomAD
KISS1R	Q969F8	p.Trp43Ser	rs1482254411	missense variant	-	NC_000019.10:g.917630G>C	TOPMed
KISS1R	Q969F8	p.Leu44Pro	rs1157026137	missense variant	-	NC_000019.10:g.917633T>C	gnomAD
KISS1R	Q969F8	p.Pro46Leu	rs1462773854	missense variant	-	NC_000019.10:g.917639C>T	TOPMed
KISS1R	Q969F8	p.Pro46Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.917639C>G	NCI-TCGA
KISS1R	Q969F8	p.Pro46Ser	rs1397339686	missense variant	-	NC_000019.10:g.917638C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Leu47His	rs1173327814	missense variant	-	NC_000019.10:g.917642T>A	gnomAD
KISS1R	Q969F8	p.Phe48Ile	rs1256478891	missense variant	-	NC_000019.10:g.917644T>A	TOPMed
KISS1R	Q969F8	p.Ala50Glu	rs773252073	missense variant	-	NC_000019.10:g.917651C>A	ExAC,gnomAD
KISS1R	Q969F8	p.Leu52Arg	rs1441086838	missense variant	-	NC_000019.10:g.917657T>G	gnomAD
KISS1R	Q969F8	p.Met53Leu	rs1306610242	missense variant	-	NC_000019.10:g.917659A>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Leu55Val	rs753724759	missense variant	-	NC_000019.10:g.917665C>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu55Arg	rs1345714356	missense variant	-	NC_000019.10:g.917666T>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Gly56Asp	rs147989869	missense variant	-	NC_000019.10:g.917669G>A	ESP,TOPMed
KISS1R	Q969F8	p.Gly56Ter	RCV000056252	frameshift	-	NC_000019.10:g.917669del	ClinVar
KISS1R	Q969F8	p.Leu57Pro	rs1452815582	missense variant	-	NC_000019.10:g.917672T>C	TOPMed
KISS1R	Q969F8	p.Gly59Arg	COSM3543753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.917677G>A	NCI-TCGA Cosmic
KISS1R	Q969F8	p.Val63Phe	rs1273866631	missense variant	-	NC_000019.10:g.917689G>T	gnomAD
KISS1R	Q969F8	p.Tyr65Ser	rs372049424	missense variant	-	NC_000019.10:g.917696A>C	ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Tyr65Cys	rs372049424	missense variant	-	NC_000019.10:g.917696A>G	ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Val66Ile	rs867908059	missense variant	-	NC_000019.10:g.917698G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.His70Tyr	rs758007675	missense variant	-	NC_000019.10:g.917710C>T	ExAC
KISS1R	Q969F8	p.His70Gln	rs777461760	missense variant	-	NC_000019.10:g.917712C>G	ExAC,gnomAD
KISS1R	Q969F8	p.His70Gln	rs777461760	missense variant	-	NC_000019.10:g.917712C>A	ExAC,gnomAD
KISS1R	Q969F8	p.Lys71Arg	rs751107234	missense variant	-	NC_000019.10:g.917714A>G	ExAC
KISS1R	Q969F8	p.Pro72Gln	rs376656467	missense variant	-	NC_000019.10:g.917717C>A	ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro72Arg	rs376656467	missense variant	-	NC_000019.10:g.917717C>G	ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Arg74Gly	rs768861954	missense variant	-	NC_000019.10:g.917722C>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Arg74Gln	rs983306617	missense variant	-	NC_000019.10:g.917723G>A	gnomAD
KISS1R	Q969F8	p.Val76Met	rs1328620032	missense variant	-	NC_000019.10:g.917728G>A	gnomAD
KISS1R	Q969F8	p.Thr77Ser	rs779127070	missense variant	-	NC_000019.10:g.917732C>G	ExAC,gnomAD
KISS1R	Q969F8	p.Asn78Ser	rs540538484	missense variant	-	NC_000019.10:g.917735A>G	1000Genomes,ExAC,gnomAD
KISS1R	Q969F8	p.Asn78Lys	rs1329120167	missense variant	-	NC_000019.10:g.917736C>A	gnomAD
KISS1R	Q969F8	p.Tyr80His	rs1047587176	missense variant	-	NC_000019.10:g.917740T>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Tyr80Cys	rs1228617980	missense variant	-	NC_000019.10:g.917741A>G	gnomAD
KISS1R	Q969F8	p.Ile81Leu	rs887601082	missense variant	-	NC_000019.10:g.917743A>C	TOPMed
KISS1R	Q969F8	p.Ala82Gly	rs908675955	missense variant	-	NC_000019.10:g.918544C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Leu84Val	rs369796710	missense variant	-	NC_000019.10:g.918549C>G	ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala85Val	rs1318987335	missense variant	-	NC_000019.10:g.918553C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala85Glu	rs1318987335	missense variant	-	NC_000019.10:g.918553C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala86Asp	rs1260558137	missense variant	-	NC_000019.10:g.918556C>A	gnomAD
KISS1R	Q969F8	p.Ala86Thr	rs1239994909	missense variant	-	NC_000019.10:g.918555G>A	gnomAD
KISS1R	Q969F8	p.Asp88His	rs1258456090	missense variant	-	NC_000019.10:g.918561G>C	TOPMed
KISS1R	Q969F8	p.Val89Met	rs1213734280	missense variant	-	NC_000019.10:g.918564G>A	gnomAD
KISS1R	Q969F8	p.Thr90Ser	rs944145153	missense variant	-	NC_000019.10:g.918568C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Thr90Ile	rs944145153	missense variant	-	NC_000019.10:g.918568C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Leu92Val	rs1365607627	missense variant	-	NC_000019.10:g.918573C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Cys94Phe	rs1485596425	missense variant	-	NC_000019.10:g.918580G>T	gnomAD
KISS1R	Q969F8	p.Cys95Trp	rs141767649	missense variant	-	NC_000019.10:g.918584C>G	ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Cys95Phe	rs1180792655	missense variant	-	NC_000019.10:g.918583G>T	gnomAD
KISS1R	Q969F8	p.Leu101Val	rs762774426	missense variant	-	NC_000019.10:g.918600C>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu102Pro	rs104894703	missense variant	-	NC_000019.10:g.918604T>C	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu102Pro	rs104894703	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.918604T>C	UniProt,dbSNP
KISS1R	Q969F8	p.Leu102Pro	VAR_043906	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.918604T>C	UniProt
KISS1R	Q969F8	p.Leu102Pro	RCV000030882	missense variant	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.918604T>C	ClinVar
KISS1R	Q969F8	p.Tyr103Phe	COSM1004176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000019.10:g.918607A>T	NCI-TCGA Cosmic
KISS1R	Q969F8	p.Tyr103Ter	rs773834075	stop gained	-	NC_000019.10:g.918608C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro104Arg	rs1376019387	missense variant	-	NC_000019.10:g.918610C>G	gnomAD
KISS1R	Q969F8	p.Pro104Leu	rs1376019387	missense variant	-	NC_000019.10:g.918610C>T	gnomAD
KISS1R	Q969F8	p.Pro104Ser	rs138559034	missense variant	-	NC_000019.10:g.918609C>T	ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro106Ser	rs766983025	missense variant	-	NC_000019.10:g.918615C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Gly107Asp	rs1308801153	missense variant	-	NC_000019.10:g.918619G>A	gnomAD
KISS1R	Q969F8	p.Gly107Cys	rs1392246068	missense variant	-	NC_000019.10:g.918618G>T	gnomAD
KISS1R	Q969F8	p.Val109Ala	rs373286653	missense variant	-	NC_000019.10:g.918625T>C	ESP,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu110Pro	rs1281429542	missense variant	-	NC_000019.10:g.918628T>C	gnomAD
KISS1R	Q969F8	p.Leu110Arg	rs1281429542	missense variant	-	NC_000019.10:g.918628T>G	gnomAD
KISS1R	Q969F8	p.Gly111Asp	rs1208597798	missense variant	-	NC_000019.10:g.918631G>A	gnomAD
KISS1R	Q969F8	p.Asp112Asn	rs765722564	missense variant	-	NC_000019.10:g.918633G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Phe113Leu	rs1237190238	missense variant	-	NC_000019.10:g.918638C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Met114Val	rs753075267	missense variant	-	NC_000019.10:g.918639A>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Met114Leu	rs753075267	missense variant	-	NC_000019.10:g.918639A>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Met114Ile	rs190206409	missense variant	-	NC_000019.10:g.918641G>A	1000Genomes
KISS1R	Q969F8	p.Met114Leu	rs753075267	missense variant	-	NC_000019.10:g.918639A>C	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Met114Lys	rs925950470	missense variant	-	NC_000019.10:g.918640T>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Cys115Tyr	rs1213743598	missense variant	-	NC_000019.10:g.918643G>A	gnomAD
KISS1R	Q969F8	p.Lys116Thr	rs758697430	missense variant	-	NC_000019.10:g.918646A>C	ExAC,gnomAD
KISS1R	Q969F8	p.Phe117Ser	rs1432573797	missense variant	-	NC_000019.10:g.918649T>C	gnomAD
KISS1R	Q969F8	p.Val118Leu	rs1356423815	missense variant	-	NC_000019.10:g.918651G>C	gnomAD
KISS1R	Q969F8	p.Ile121Leu	rs1204049262	missense variant	-	NC_000019.10:g.918660A>C	TOPMed
KISS1R	Q969F8	p.Ile121Met	rs377317166	missense variant	-	NC_000019.10:g.918662C>G	ESP,TOPMed,gnomAD
KISS1R	Q969F8	p.Gln122His	rs902988855	missense variant	-	NC_000019.10:g.918665G>T	gnomAD
KISS1R	Q969F8	p.Gln123Arg	rs1486349191	missense variant	-	NC_000019.10:g.918667A>G	gnomAD
KISS1R	Q969F8	p.Ser125Ala	rs1476224653	missense variant	-	NC_000019.10:g.919493T>G	gnomAD
KISS1R	Q969F8	p.Ser125Leu	rs749123047	missense variant	-	NC_000019.10:g.919494C>T	ExAC,gnomAD
KISS1R	Q969F8	p.Val126Glu	rs774170906	missense variant	-	NC_000019.10:g.919497T>A	ExAC,gnomAD
KISS1R	Q969F8	p.Val126Met	rs768520956	missense variant	-	NC_000019.10:g.919496G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Gln127Pro	rs1399993048	missense variant	-	NC_000019.10:g.919500A>C	gnomAD
KISS1R	Q969F8	p.Gln127His	rs1296885216	missense variant	-	NC_000019.10:g.919501G>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala128Val	rs761411233	missense variant	-	NC_000019.10:g.919503C>T	ExAC,TOPMed
KISS1R	Q969F8	p.Cys130Phe	rs767193126	missense variant	-	NC_000019.10:g.919509G>T	ExAC,gnomAD
KISS1R	Q969F8	p.Cys130Gly	rs1048171903	missense variant	-	NC_000019.10:g.919508T>G	TOPMed
KISS1R	Q969F8	p.Ala131Val	rs772656538	missense variant	-	NC_000019.10:g.919512C>T	ExAC,gnomAD
KISS1R	Q969F8	p.Thr132Ile	rs147415270	missense variant	-	NC_000019.10:g.919515C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala135Thr	rs867662591	missense variant	-	NC_000019.10:g.919523G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala135Ser	rs867662591	missense variant	-	NC_000019.10:g.919523G>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Met136Leu	rs1286141337	missense variant	-	NC_000019.10:g.919526A>C	gnomAD
KISS1R	Q969F8	p.Met136Ile	rs1215886844	missense variant	-	NC_000019.10:g.919528G>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Met136Ile	rs1215886844	missense variant	-	NC_000019.10:g.919528G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Met136Val	rs1286141337	missense variant	-	NC_000019.10:g.919526A>G	gnomAD
KISS1R	Q969F8	p.Met136Arg	rs765739273	missense variant	-	NC_000019.10:g.919527T>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ser137Gly	rs1350373699	missense variant	-	NC_000019.10:g.919529A>G	TOPMed
KISS1R	Q969F8	p.Ser137Thr	rs779891326	missense variant	-	NC_000019.10:g.919530G>C	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Val138Leu	rs140811887	missense variant	-	NC_000019.10:g.919532G>C	ESP,ExAC,gnomAD
KISS1R	Q969F8	p.Val138Met	rs140811887	missense variant	-	NC_000019.10:g.919532G>A	ESP,ExAC,gnomAD
KISS1R	Q969F8	p.Arg140Cys	rs377563649	missense variant	-	NC_000019.10:g.919538C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Trp141Cys	rs757476059	missense variant	-	NC_000019.10:g.919543G>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Trp141Arg	rs751926094	missense variant	-	NC_000019.10:g.919541T>C	ExAC,gnomAD
KISS1R	Q969F8	p.Val145Ala	rs781414080	missense variant	-	NC_000019.10:g.919554T>C	ExAC,gnomAD
KISS1R	Q969F8	p.Val145Met	rs1409262159	missense variant	-	NC_000019.10:g.919553G>A	gnomAD
KISS1R	Q969F8	p.Pro147Gln	rs545635250	missense variant	-	NC_000019.10:g.919560C>A	1000Genomes,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro147Leu	rs545635250	missense variant	-	NC_000019.10:g.919560C>T	1000Genomes,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro147Ser	rs61735615	missense variant	-	NC_000019.10:g.919559C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro147Arg	rs545635250	missense variant	-	NC_000019.10:g.919560C>G	1000Genomes,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu148Ser	rs28939719	missense variant	-	NC_000019.10:g.919563T>C	gnomAD
KISS1R	Q969F8	p.Leu148Ser	rs28939719	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919563T>C	UniProt,dbSNP
KISS1R	Q969F8	p.Leu148Ser	VAR_021392	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919563T>C	UniProt
KISS1R	Q969F8	p.Leu148Ser	RCV000030878	missense variant	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.919563T>C	ClinVar
KISS1R	Q969F8	p.Arg149Cys	rs1339343212	missense variant	-	NC_000019.10:g.919565C>T	gnomAD
KISS1R	Q969F8	p.Ala150Ser	rs1445430129	missense variant	-	NC_000019.10:g.919568G>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Leu151Val	rs941656527	missense variant	-	NC_000019.10:g.919571C>G	TOPMed
KISS1R	Q969F8	p.Arg154Pro	rs866811441	missense variant	-	NC_000019.10:g.919581G>C	gnomAD
KISS1R	Q969F8	p.Arg154His	rs866811441	missense variant	-	NC_000019.10:g.919581G>A	gnomAD
KISS1R	Q969F8	p.Thr155Met	rs1239173061	missense variant	-	NC_000019.10:g.919584C>T	gnomAD
KISS1R	Q969F8	p.Pro156Ser	rs1306745866	missense variant	-	NC_000019.10:g.919586C>T	gnomAD
KISS1R	Q969F8	p.Arg157Leu	rs1200941842	missense variant	-	NC_000019.10:g.919590G>T	gnomAD
KISS1R	Q969F8	p.Arg157Ser	rs868598262	missense variant	-	NC_000019.10:g.919589C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg157Cys	rs868598262	missense variant	-	NC_000019.10:g.919589C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Leu158Met	rs780162417	missense variant	-	NC_000019.10:g.919592C>A	ExAC,gnomAD
KISS1R	Q969F8	p.Leu158Val	rs780162417	missense variant	-	NC_000019.10:g.919592C>G	ExAC,gnomAD
KISS1R	Q969F8	p.Leu158Val	RCV000591052	missense variant	-	NC_000019.10:g.919592C>G	ClinVar
KISS1R	Q969F8	p.Ala159Glu	rs749285893	missense variant	-	NC_000019.10:g.919596C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu160Pro	rs1206633378	missense variant	-	NC_000019.10:g.919599T>C	gnomAD
KISS1R	Q969F8	p.Ala161Asp	rs1239035102	missense variant	-	NC_000019.10:g.919602C>A	gnomAD
KISS1R	Q969F8	p.Val162Ile	rs768682775	missense variant	-	NC_000019.10:g.919604G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Leu164Ile	rs1397241658	missense variant	-	NC_000019.10:g.919610C>A	gnomAD
KISS1R	Q969F8	p.Ser165Gly	rs1172486808	missense variant	-	NC_000019.10:g.919613A>G	gnomAD
KISS1R	Q969F8	p.Ile166Thr	rs1207191357	missense variant	-	NC_000019.10:g.919617T>C	TOPMed
KISS1R	Q969F8	p.Trp167Ter	rs1400947375	stop gained	-	NC_000019.10:g.919621G>A	gnomAD
KISS1R	Q969F8	p.Trp167Arg	rs1269168789	missense variant	-	NC_000019.10:g.919619T>C	TOPMed
KISS1R	Q969F8	p.Val168Ala	rs564318120	missense variant	-	NC_000019.10:g.919623T>C	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Val168Ile	rs747963386	missense variant	-	NC_000019.10:g.919622G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Gly169Asp	rs767661561	missense variant	-	NC_000019.10:g.919874G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Ser170Cys	rs750622030	missense variant	-	NC_000019.10:g.919877C>G	ExAC,gnomAD
KISS1R	Q969F8	p.Ala172Val	rs1440702117	missense variant	-	NC_000019.10:g.919883C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Val173Met	rs1477212929	missense variant	-	NC_000019.10:g.919885G>A	gnomAD
KISS1R	Q969F8	p.Ala175Glu	rs1458062652	missense variant	-	NC_000019.10:g.919892C>A	gnomAD
KISS1R	Q969F8	p.Pro176Leu	rs568809186	missense variant	-	NC_000019.10:g.919895C>T	1000Genomes,ExAC,gnomAD
KISS1R	Q969F8	p.Pro176Thr	rs1388286859	missense variant	-	NC_000019.10:g.919894C>A	gnomAD
KISS1R	Q969F8	p.Leu178Ile	rs1298723460	missense variant	-	NC_000019.10:g.919900C>A	gnomAD
KISS1R	Q969F8	p.His181Asn	rs1319615810	missense variant	-	NC_000019.10:g.919909C>A	TOPMed
KISS1R	Q969F8	p.Arg182Leu	rs1288874942	missense variant	-	NC_000019.10:g.919913G>T	TOPMed
KISS1R	Q969F8	p.Leu183Pro	rs754927934	missense variant	-	NC_000019.10:g.919916T>C	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu183Arg	rs754927934	missense variant	-	NC_000019.10:g.919916T>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro185Ser	rs1374096437	missense variant	-	NC_000019.10:g.919921C>T	gnomAD
KISS1R	Q969F8	p.Pro185Leu	rs1411745747	missense variant	-	NC_000019.10:g.919922C>T	gnomAD
KISS1R	Q969F8	p.Gly186Glu	rs1281550153	missense variant	-	NC_000019.10:g.919925G>A	gnomAD
KISS1R	Q969F8	p.Gly186Arg	rs1398241410	missense variant	-	NC_000019.10:g.919924G>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro187Leu	rs1341328855	missense variant	-	NC_000019.10:g.919928C>T	gnomAD
KISS1R	Q969F8	p.Arg188Cys	rs1264103458	missense variant	-	NC_000019.10:g.919930C>T	gnomAD
KISS1R	Q969F8	p.Ala189Ser	rs73507527	missense variant	-	NC_000019.10:g.919933G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala189Val	rs1217719689	missense variant	-	NC_000019.10:g.919934C>T	gnomAD
KISS1R	Q969F8	p.Ala189Thr	rs73507527	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919933G>A	UniProt,dbSNP
KISS1R	Q969F8	p.Ala189Thr	VAR_069961	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919933G>A	UniProt
KISS1R	Q969F8	p.Ala189Thr	rs73507527	missense variant	-	NC_000019.10:g.919933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala189Thr	RCV000224427	missense variant	-	NC_000019.10:g.919933G>A	ClinVar
KISS1R	Q969F8	p.Cys191Tyr	rs771862860	missense variant	-	NC_000019.10:g.919940G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Ser192Gly	rs553809426	missense variant	-	NC_000019.10:g.919942A>G	1000Genomes,ExAC,gnomAD
KISS1R	Q969F8	p.Ser192Gly	RCV000658095	missense variant	-	NC_000019.10:g.919942A>G	ClinVar
KISS1R	Q969F8	p.Glu193Gly	rs966786206	missense variant	-	NC_000019.10:g.919946A>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala194Val	rs397514699	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (hh8)	NC_000019.10:g.919949C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala194Asp	rs397514699	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (hh8)	NC_000019.10:g.919949C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala194Asp	rs397514699	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919949C>A	UniProt,dbSNP
KISS1R	Q969F8	p.Ala194Asp	VAR_069962	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919949C>A	UniProt
KISS1R	Q969F8	p.Ala194Asp	RCV000043601	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.919949C>A	ClinVar
KISS1R	Q969F8	p.Phe195Cys	rs776194205	missense variant	-	NC_000019.10:g.919952T>G	ExAC,gnomAD
KISS1R	Q969F8	p.Pro196His	rs572007403	missense variant	-	NC_000019.10:g.919955C>A	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ser197Gly	rs1182036978	missense variant	-	NC_000019.10:g.919957A>G	TOPMed
KISS1R	Q969F8	p.Ser197Ile	rs769043782	missense variant	-	NC_000019.10:g.919958G>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ser197Thr	rs769043782	missense variant	-	NC_000019.10:g.919958G>C	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ser197Arg	rs1359850429	missense variant	-	NC_000019.10:g.919959C>A	gnomAD
KISS1R	Q969F8	p.Arg198Gly	rs1250724214	missense variant	-	NC_000019.10:g.919960C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg198Ser	rs1250724214	missense variant	-	NC_000019.10:g.919960C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala199Ser	rs774878942	missense variant	-	NC_000019.10:g.919963G>T	ExAC,gnomAD
KISS1R	Q969F8	p.Leu200Val	rs944504478	missense variant	-	NC_000019.10:g.919966C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Glu201Gln	rs762103898	missense variant	-	NC_000019.10:g.919969G>C	ExAC,gnomAD
KISS1R	Q969F8	p.Arg202Cys	rs1310850583	missense variant	-	NC_000019.10:g.919972C>T	gnomAD
KISS1R	Q969F8	p.Ala203Asp	rs767972292	missense variant	-	NC_000019.10:g.919976C>A	ExAC,gnomAD
KISS1R	Q969F8	p.Ala205Thr	rs960767846	missense variant	-	NC_000019.10:g.919981G>A	gnomAD
KISS1R	Q969F8	p.Tyr207His	rs1213613683	missense variant	-	NC_000019.10:g.919987T>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Asn208Ser	rs970373223	missense variant	-	NC_000019.10:g.919991A>G	TOPMed
KISS1R	Q969F8	p.Leu210Pro	rs761043800	missense variant	-	NC_000019.10:g.919997T>C	ExAC,gnomAD
KISS1R	Q969F8	p.Ala211Thr	rs766694658	missense variant	-	NC_000019.10:g.919999G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu212Val	rs1253663262	missense variant	-	NC_000019.10:g.920002C>G	gnomAD
KISS1R	Q969F8	p.Leu215Arg	rs1179059532	missense variant	-	NC_000019.10:g.920012T>G	gnomAD
KISS1R	Q969F8	p.Pro216Ser	rs1443420206	missense variant	-	NC_000019.10:g.920014C>T	TOPMed
KISS1R	Q969F8	p.Leu218Pro	rs753980643	missense variant	-	NC_000019.10:g.920021T>C	ExAC,gnomAD
KISS1R	Q969F8	p.Cys223Tyr	rs1378066110	missense variant	-	NC_000019.10:g.920036G>A	gnomAD
KISS1R	Q969F8	p.Cys223Arg	VAR_021393	Missense	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837]	-	UniProt
KISS1R	Q969F8	p.Ala225Thr	rs1158968688	missense variant	-	NC_000019.10:g.920041G>A	TOPMed
KISS1R	Q969F8	p.Ala225Val	rs1402768002	missense variant	-	NC_000019.10:g.920042C>T	gnomAD
KISS1R	Q969F8	p.Met227Ile	rs1447752491	missense variant	-	NC_000019.10:g.920049G>A	gnomAD
KISS1R	Q969F8	p.Arg229His	rs755018926	missense variant	-	NC_000019.10:g.920054G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Arg229Leu	rs755018926	missense variant	-	NC_000019.10:g.920054G>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.His230Tyr	rs1266094276	missense variant	-	NC_000019.10:g.920056C>T	TOPMed
KISS1R	Q969F8	p.Leu231Val	rs1054311830	missense variant	-	NC_000019.10:g.920059C>G	TOPMed
KISS1R	Q969F8	p.Gly232Ala	rs1245947219	missense variant	-	NC_000019.10:g.920063G>C	TOPMed
KISS1R	Q969F8	p.Val234Ala	rs1312068530	missense variant	-	NC_000019.10:g.920069T>C	gnomAD
KISS1R	Q969F8	p.Ala235Thr	rs1431691251	missense variant	-	NC_000019.10:g.920071G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Val236Leu	rs576165678	missense variant	-	NC_000019.10:g.920074G>C	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Val236Ala	rs1311637711	missense variant	-	NC_000019.10:g.920075T>C	TOPMed
KISS1R	Q969F8	p.Val236Met	rs576165678	missense variant	-	NC_000019.10:g.920074G>A	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Val236Leu	rs576165678	missense variant	-	NC_000019.10:g.920074G>T	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Arg237His	rs1302076437	missense variant	-	NC_000019.10:g.920078G>A	TOPMed
KISS1R	Q969F8	p.Pro238Ala	rs922334214	missense variant	-	NC_000019.10:g.920080C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro238Ser	rs922334214	missense variant	-	NC_000019.10:g.920080C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro240Ala	rs1320272910	missense variant	-	NC_000019.10:g.920086C>G	TOPMed
KISS1R	Q969F8	p.Ala241Thr	rs1237403583	missense variant	-	NC_000019.10:g.920089G>A	gnomAD
KISS1R	Q969F8	p.Asp242His	rs1301565926	missense variant	-	NC_000019.10:g.920092G>C	TOPMed
KISS1R	Q969F8	p.Ser243Gly	rs1405831312	missense variant	-	NC_000019.10:g.920095A>G	gnomAD
KISS1R	Q969F8	p.Gly247Arg	rs1439741420	missense variant	-	NC_000019.10:g.920290G>C	TOPMed
KISS1R	Q969F8	p.Gly247Glu	rs765408704	missense variant	-	NC_000019.10:g.920291G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Val249Met	rs1209490485	missense variant	-	NC_000019.10:g.920296G>A	TOPMed
KISS1R	Q969F8	p.Leu250Pro	rs752689988	missense variant	-	NC_000019.10:g.920300T>C	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala251Glu	rs1359480512	missense variant	-	NC_000019.10:g.920303C>A	gnomAD
KISS1R	Q969F8	p.Glu252Gln	rs1229652300	missense variant	-	NC_000019.10:g.920305G>C	gnomAD
KISS1R	Q969F8	p.Glu252Asp	rs1290398516	missense variant	-	NC_000019.10:g.920307G>T	gnomAD
KISS1R	Q969F8	p.Arg253Ser	rs1320882091	missense variant	-	NC_000019.10:g.920308C>A	gnomAD
KISS1R	Q969F8	p.Ala254Ser	rs1288090133	missense variant	-	NC_000019.10:g.920311G>T	gnomAD
KISS1R	Q969F8	p.Ala256Pro	rs1261086848	missense variant	-	NC_000019.10:g.920317G>C	gnomAD
KISS1R	Q969F8	p.Ala256Gly	rs751356907	missense variant	-	NC_000019.10:g.920318C>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Val257Met	rs1413609469	missense variant	-	NC_000019.10:g.920320G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Val257Leu	rs1413609469	missense variant	-	NC_000019.10:g.920320G>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg258Trp	rs757001659	missense variant	-	NC_000019.10:g.920323C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Arg258Gln	rs1361769941	missense variant	-	NC_000019.10:g.920324G>A	gnomAD
KISS1R	Q969F8	p.Lys260Arg	rs1297095423	missense variant	-	NC_000019.10:g.920330A>G	gnomAD
KISS1R	Q969F8	p.Ser262Leu	rs745580229	missense variant	-	NC_000019.10:g.920336C>T	ExAC,gnomAD
KISS1R	Q969F8	p.Ser262Leu	rs745580229	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.920336C>T	UniProt,dbSNP
KISS1R	Q969F8	p.Ser262Leu	VAR_072975	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.920336C>T	UniProt
KISS1R	Q969F8	p.Arg263Trp	rs1337041533	missense variant	-	NC_000019.10:g.920338C>T	TOPMed
KISS1R	Q969F8	p.Val265Met	rs1284425091	missense variant	-	NC_000019.10:g.920344G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Val265Gly	rs1033347690	missense variant	-	NC_000019.10:g.920345T>G	gnomAD
KISS1R	Q969F8	p.Val268Glu	rs1343670176	missense variant	-	NC_000019.10:g.920354T>A	gnomAD
KISS1R	Q969F8	p.Ala273Ser	rs748734882	missense variant	-	NC_000019.10:g.920368G>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala273Thr	rs748734882	missense variant	-	NC_000019.10:g.920368G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala273Gly	rs1411197106	missense variant	-	NC_000019.10:g.920369C>G	TOPMed
KISS1R	Q969F8	p.Ala274Asp	rs1444197842	missense variant	-	NC_000019.10:g.920372C>A	gnomAD
KISS1R	Q969F8	p.Cys275Gly	rs773788662	missense variant	-	NC_000019.10:g.920374T>G	ExAC,gnomAD
KISS1R	Q969F8	p.Cys275Ser	rs1269448845	missense variant	-	NC_000019.10:g.920375G>C	gnomAD
KISS1R	Q969F8	p.Trp276Cys	rs747410877	missense variant	-	NC_000019.10:g.920379G>T	ExAC,gnomAD
KISS1R	Q969F8	p.Gly277Ser	rs1180943168	missense variant	-	NC_000019.10:g.920380G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Gly277Val	rs1381285451	missense variant	-	NC_000019.10:g.920381G>T	gnomAD
KISS1R	Q969F8	p.Pro278Ser	rs777116001	missense variant	-	NC_000019.10:g.920383C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu281Met	rs149439633	missense variant	-	NC_000019.10:g.920392C>A	1000Genomes,TOPMed
KISS1R	Q969F8	p.Leu283Pro	rs759844858	missense variant	-	NC_000019.10:g.920399T>C	ExAC,gnomAD
KISS1R	Q969F8	p.Gln286Ter	rs775701047	stop gained	-	NC_000019.10:g.920407C>T	ExAC,gnomAD
KISS1R	Q969F8	p.Leu288Val	rs1377350696	missense variant	-	NC_000019.10:g.920413C>G	gnomAD
KISS1R	Q969F8	p.Pro290Ser	rs762888590	missense variant	-	NC_000019.10:g.920419C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro290Ala	rs762888590	missense variant	-	NC_000019.10:g.920419C>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala291Val	rs751445161	missense variant	-	NC_000019.10:g.920423C>T	ExAC,gnomAD
KISS1R	Q969F8	p.Ala291Thr	rs910854883	missense variant	-	NC_000019.10:g.920422G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Gly292Asp	rs757161059	missense variant	-	NC_000019.10:g.920426G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ser293Ala	rs375252773	missense variant	-	NC_000019.10:g.920428T>G	ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.His295Tyr	rs371344839	missense variant	-	NC_000019.10:g.920434C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro296Thr	rs1180030167	missense variant	-	NC_000019.10:g.920437C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg297Gly	rs1046021515	missense variant	-	NC_000019.10:g.920440C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg297Leu	rs144670595	missense variant	-	NC_000019.10:g.920441G>T	ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Arg297Leu	rs144670595	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.920441G>T	UniProt,dbSNP
KISS1R	Q969F8	p.Arg297Leu	VAR_021394	missense variant	Hypogonadotropic hypogonadism 8 with or without anosmia (HH8)	NC_000019.10:g.920441G>T	UniProt
KISS1R	Q969F8	p.Arg297Leu	RCV000342759	missense variant	-	NC_000019.10:g.920441G>T	ClinVar
KISS1R	Q969F8	p.Arg297Cys	rs1046021515	missense variant	-	NC_000019.10:g.920440C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg297Leu	RCV000845180	missense variant	-	NC_000019.10:g.920441G>T	ClinVar
KISS1R	Q969F8	p.Ser298Cys	rs1172701061	missense variant	-	NC_000019.10:g.920443A>T	gnomAD
KISS1R	Q969F8	p.Tyr299His	rs1423832405	missense variant	-	NC_000019.10:g.920446T>C	gnomAD
KISS1R	Q969F8	p.Ala300Val	rs754498103	missense variant	-	NC_000019.10:g.920450C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala300Thr	rs748834443	missense variant	-	NC_000019.10:g.920449G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala300Asp	rs754498103	missense variant	-	NC_000019.10:g.920450C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Tyr302His	rs747568732	missense variant	-	NC_000019.10:g.920455T>C	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Tyr302Ter	rs771534661	stop gained	-	NC_000019.10:g.920457C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Tyr302Cys	rs1186935206	missense variant	-	NC_000019.10:g.920456A>G	TOPMed
KISS1R	Q969F8	p.Ala303Thr	rs1218492534	missense variant	-	NC_000019.10:g.920458G>A	TOPMed
KISS1R	Q969F8	p.Trp307Arg	NCI-TCGA novel	missense variant	-	NC_000019.10:g.920470T>C	NCI-TCGA
KISS1R	Q969F8	p.Trp307Cys	rs1274395410	missense variant	-	NC_000019.10:g.920472G>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Trp307Ter	rs1274395410	stop gained	-	NC_000019.10:g.920472G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala308Val	rs746208864	missense variant	-	NC_000019.10:g.920474C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Met311Leu	rs770072521	missense variant	-	NC_000019.10:g.920482A>C	ExAC,gnomAD
KISS1R	Q969F8	p.Met311Ile	rs184056969	missense variant	-	NC_000019.10:g.920484G>T	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ser312Pro	rs1317466053	missense variant	-	NC_000019.10:g.920485T>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Tyr313His	rs587777844	missense variant	-	NC_000019.10:g.920488T>C	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Tyr313His	RCV000144561	missense variant	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.920488T>C	ClinVar
KISS1R	Q969F8	p.Ser314Gly	rs1292437651	missense variant	-	NC_000019.10:g.920491A>G	gnomAD
KISS1R	Q969F8	p.Ser314Asn	rs768769129	missense variant	-	NC_000019.10:g.920492G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Asn315Asp	rs531922726	missense variant	-	NC_000019.10:g.920494A>G	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Asn315His	rs531922726	missense variant	-	NC_000019.10:g.920494A>C	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro320Thr	rs761804333	missense variant	-	NC_000019.10:g.920509C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu321Pro	rs767427190	missense variant	-	NC_000019.10:g.920513T>C	ExAC,gnomAD
KISS1R	Q969F8	p.Tyr323Ter	rs775830195	stop gained	-	NC_000019.10:g.920520C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Tyr323Phe	rs1312319630	missense variant	-	NC_000019.10:g.920519A>T	TOPMed
KISS1R	Q969F8	p.Ala324Thr	rs753384689	missense variant	-	NC_000019.10:g.920521G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Gly327Asp	rs1343499661	missense variant	-	NC_000019.10:g.920531G>A	gnomAD
KISS1R	Q969F8	p.Ser328Ter	rs754657430	stop gained	-	NC_000019.10:g.920534C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ser328Trp	rs754657430	missense variant	-	NC_000019.10:g.920534C>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Phe330Ser	rs752253847	missense variant	-	NC_000019.10:g.920540T>C	ExAC,gnomAD
KISS1R	Q969F8	p.Phe330Leu	rs757899647	missense variant	-	NC_000019.10:g.920541C>G	ExAC,gnomAD
KISS1R	Q969F8	p.Arg331Pro	rs781496985	missense variant	-	NC_000019.10:g.920543G>C	ExAC,gnomAD
KISS1R	Q969F8	p.Arg331Ter	RCV000030879	nonsense	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.920542C>T	ClinVar
KISS1R	Q969F8	p.Arg331Leu	rs781496985	missense variant	-	NC_000019.10:g.920543G>T	ExAC,gnomAD
KISS1R	Q969F8	p.Arg331Gln	rs781496985	missense variant	-	NC_000019.10:g.920543G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Arg331Ter	rs104894701	stop gained	-	NC_000019.10:g.920542C>T	-
KISS1R	Q969F8	p.Ala333Thr	rs746252619	missense variant	-	NC_000019.10:g.920548G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Ala333Val	rs535137119	missense variant	-	NC_000019.10:g.920549C>T	ExAC,gnomAD
KISS1R	Q969F8	p.Phe334Leu	rs780439817	missense variant	-	NC_000019.10:g.920551T>C	ExAC,gnomAD
KISS1R	Q969F8	p.Arg335Cys	rs749548787	missense variant	-	NC_000019.10:g.920554C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Arg336Cys	rs1190567950	missense variant	-	NC_000019.10:g.920557C>T	gnomAD
KISS1R	Q969F8	p.Arg336Pro	rs1473135430	missense variant	-	NC_000019.10:g.920558G>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Cys338Ter	rs1473009676	stop gained	-	NC_000019.10:g.920565C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro339Arg	rs1363666556	missense variant	-	NC_000019.10:g.920567C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro339Ser	rs1162638135	missense variant	-	NC_000019.10:g.920566C>T	gnomAD
KISS1R	Q969F8	p.Pro339Leu	rs1363666556	missense variant	-	NC_000019.10:g.920567C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro339Thr	rs1162638135	missense variant	-	NC_000019.10:g.920566C>A	gnomAD
KISS1R	Q969F8	p.Cys340Ser	rs1298938090	missense variant	-	NC_000019.10:g.920570G>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Cys340Ter	rs1359970137	stop gained	-	NC_000019.10:g.920571C>A	gnomAD
KISS1R	Q969F8	p.Ala341Pro	rs1380813369	missense variant	-	NC_000019.10:g.920572G>C	gnomAD
KISS1R	Q969F8	p.Pro342Leu	NCI-TCGA novel	missense variant	-	NC_000019.10:g.920576C>T	NCI-TCGA
KISS1R	Q969F8	p.Arg343Leu	rs1441750130	missense variant	-	NC_000019.10:g.920579G>T	TOPMed
KISS1R	Q969F8	p.Arg343His	rs1441750130	missense variant	-	NC_000019.10:g.920579G>A	TOPMed
KISS1R	Q969F8	p.Arg344Ser	rs1172967650	missense variant	-	NC_000019.10:g.920581C>A	TOPMed
KISS1R	Q969F8	p.Arg346His	rs1244545980	missense variant	-	NC_000019.10:g.920588G>A	gnomAD
KISS1R	Q969F8	p.Arg346Cys	rs768858861	missense variant	-	NC_000019.10:g.920587C>T	ExAC,gnomAD
KISS1R	Q969F8	p.Arg347His	rs761822644	missense variant	-	NC_000019.10:g.920591G>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Arg347Ser	rs1313324502	missense variant	-	NC_000019.10:g.920590C>A	gnomAD
KISS1R	Q969F8	p.Arg349Leu	rs1008480594	missense variant	-	NC_000019.10:g.920597G>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg349His	rs1008480594	missense variant	-	NC_000019.10:g.920597G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg349Pro	rs1008480594	missense variant	-	NC_000019.10:g.920597G>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg350Gln	rs772983011	missense variant	-	NC_000019.10:g.920600G>A	ExAC
KISS1R	Q969F8	p.Arg350Leu	rs772983011	missense variant	-	NC_000019.10:g.920600G>T	ExAC
KISS1R	Q969F8	p.Pro351Arg	rs753639593	missense variant	-	NC_000019.10:g.920603C>G	ExAC,TOPMed
KISS1R	Q969F8	p.Pro353Leu	rs1485261639	missense variant	-	NC_000019.10:g.920609C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Ser354Leu	rs961267673	missense variant	-	NC_000019.10:g.920612C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Ser354Trp	rs961267673	missense variant	-	NC_000019.10:g.920612C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro356Ala	rs1257857042	missense variant	-	NC_000019.10:g.920617C>G	gnomAD
KISS1R	Q969F8	p.Pro356Leu	rs1442598107	missense variant	-	NC_000019.10:g.920618C>T	gnomAD
KISS1R	Q969F8	p.Ala357Thr	rs1383134891	missense variant	-	NC_000019.10:g.920620G>A	gnomAD
KISS1R	Q969F8	p.Ala357Val	rs1441535406	missense variant	-	NC_000019.10:g.920621C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala358Val	rs550442340	missense variant	-	NC_000019.10:g.920624C>T	1000Genomes,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala358Asp	rs550442340	missense variant	-	NC_000019.10:g.920624C>A	1000Genomes,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro359Ser	rs1029869794	missense variant	-	NC_000019.10:g.920626C>T	gnomAD
KISS1R	Q969F8	p.His360Leu	rs1285484939	missense variant	-	NC_000019.10:g.920630A>T	gnomAD
KISS1R	Q969F8	p.His360Gln	rs1032492440	missense variant	-	NC_000019.10:g.920631C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.His360Asp	rs1451740337	missense variant	-	NC_000019.10:g.920629C>G	gnomAD
KISS1R	Q969F8	p.Ala361Ser	rs759331585	missense variant	-	NC_000019.10:g.920632G>T	ExAC,gnomAD
KISS1R	Q969F8	p.Ala361Glu	rs764972470	missense variant	-	NC_000019.10:g.920633C>A	ExAC,gnomAD
KISS1R	Q969F8	p.Ala361Thr	rs759331585	missense variant	-	NC_000019.10:g.920632G>A	ExAC,gnomAD
KISS1R	Q969F8	p.Glu362Ter	rs757919641	stop gained	-	NC_000019.10:g.920635G>T	ExAC
KISS1R	Q969F8	p.Glu362Gly	rs1379566137	missense variant	-	NC_000019.10:g.920636A>G	gnomAD
KISS1R	Q969F8	p.Leu364His	rs350132	missense variant	-	NC_000019.10:g.920642T>A	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu364His	rs350132	missense variant	-	NC_000019.10:g.920642T>A	UniProt,dbSNP
KISS1R	Q969F8	p.Leu364His	VAR_021395	missense variant	-	NC_000019.10:g.920642T>A	UniProt
KISS1R	Q969F8	p.Leu364Pro	rs350132	missense variant	-	NC_000019.10:g.920642T>C	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu364Ile	rs1309187661	missense variant	-	NC_000019.10:g.920641C>A	gnomAD
KISS1R	Q969F8	p.Leu364His	RCV000517624	missense variant	-	NC_000019.10:g.920642T>A	ClinVar
KISS1R	Q969F8	p.Arg365Gly	rs1236288250	missense variant	-	NC_000019.10:g.920644C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg365Ser	rs1236288250	missense variant	-	NC_000019.10:g.920644C>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg365His	rs1257210115	missense variant	-	NC_000019.10:g.920645G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Arg365Cys	rs1236288250	missense variant	-	NC_000019.10:g.920644C>T	TOPMed,gnomAD
KISS1R	Q969F8	p.Leu366Met	rs1345336191	missense variant	-	NC_000019.10:g.920647C>A	gnomAD
KISS1R	Q969F8	p.Gly367Arg	rs1268401717	missense variant	-	NC_000019.10:g.920650G>C	gnomAD
KISS1R	Q969F8	p.Ser368Phe	rs756610568	missense variant	-	NC_000019.10:g.920654C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.His369Tyr	rs910960357	missense variant	-	NC_000019.10:g.920656C>T	gnomAD
KISS1R	Q969F8	p.His369Gln	rs948358007	missense variant	-	NC_000019.10:g.920658C>G	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro370Gln	rs946389146	missense variant	-	NC_000019.10:g.920660C>A	gnomAD
KISS1R	Q969F8	p.Pro370Leu	rs946389146	missense variant	-	NC_000019.10:g.920660C>T	gnomAD
KISS1R	Q969F8	p.Ala371Thr	rs979090715	missense variant	-	NC_000019.10:g.920662G>A	TOPMed,gnomAD
KISS1R	Q969F8	p.Ala371Val	rs924223910	missense variant	-	NC_000019.10:g.920663C>T	gnomAD
KISS1R	Q969F8	p.Ala371Asp	rs924223910	missense variant	-	NC_000019.10:g.920663C>A	gnomAD
KISS1R	Q969F8	p.Ala371Pro	rs979090715	missense variant	-	NC_000019.10:g.920662G>C	TOPMed,gnomAD
KISS1R	Q969F8	p.Pro372Thr	rs1174551245	missense variant	-	NC_000019.10:g.920665C>A	gnomAD
KISS1R	Q969F8	p.Ala373Thr	rs1466488200	missense variant	-	NC_000019.10:g.920668G>A	gnomAD
KISS1R	Q969F8	p.Ala373Val	rs780347102	missense variant	-	NC_000019.10:g.920669C>T	ExAC,gnomAD
KISS1R	Q969F8	p.Ala375Val	rs749638365	missense variant	-	NC_000019.10:g.920675C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ala375Glu	rs749638365	missense variant	-	NC_000019.10:g.920675C>A	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro378Leu	rs576107921	missense variant	-	NC_000019.10:g.920684C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ser380Gly	rs1302851709	missense variant	-	NC_000019.10:g.920689A>G	gnomAD
KISS1R	Q969F8	p.Leu383Pro	rs779039173	missense variant	-	NC_000019.10:g.920699T>C	ExAC,gnomAD
KISS1R	Q969F8	p.Ala385Pro	rs748258240	missense variant	-	NC_000019.10:g.920704G>C	ExAC,gnomAD
KISS1R	Q969F8	p.Arg386Pro	rs121908499	missense variant	Precocious puberty, central 1 (CPPB1)	NC_000019.10:g.920708G>C	UniProt,dbSNP
KISS1R	Q969F8	p.Arg386Pro	VAR_043907	missense variant	Precocious puberty, central 1 (CPPB1)	NC_000019.10:g.920708G>C	UniProt
KISS1R	Q969F8	p.Arg386Pro	rs121908499	missense variant	-	NC_000019.10:g.920708G>C	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Arg386Cys	rs1217678018	missense variant	-	NC_000019.10:g.920707C>T	TOPMed
KISS1R	Q969F8	p.Arg386Pro	RCV000489218	missense variant	-	NC_000019.10:g.920708G>C	ClinVar
KISS1R	Q969F8	p.Gly387Arg	rs565693558	missense variant	-	NC_000019.10:g.920710G>A	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Gly387Glu	rs1443633330	missense variant	-	NC_000019.10:g.920711G>A	TOPMed
KISS1R	Q969F8	p.Gly387Arg	rs565693558	missense variant	-	NC_000019.10:g.920710G>C	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Leu388Met	rs770898408	missense variant	-	NC_000019.10:g.920713C>A	ExAC,gnomAD
KISS1R	Q969F8	p.Cys389Trp	rs371771794	missense variant	-	NC_000019.10:g.920718C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Cys389Tyr	rs1267889330	missense variant	-	NC_000019.10:g.920717G>A	gnomAD
KISS1R	Q969F8	p.Cys389Ter	RCV000499713	nonsense	-	NC_000019.10:g.920718C>A	ClinVar
KISS1R	Q969F8	p.Cys389Ter	rs371771794	stop gained	-	NC_000019.10:g.920718C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Val390Ile	rs1414482292	missense variant	-	NC_000019.10:g.920719G>A	gnomAD
KISS1R	Q969F8	p.Glu393Gly	rs868227115	missense variant	-	NC_000019.10:g.920729A>G	gnomAD
KISS1R	Q969F8	p.Ala396Thr	rs557819500	missense variant	-	NC_000019.10:g.920737G>A	1000Genomes,ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro397Ser	rs762640475	missense variant	-	NC_000019.10:g.920740C>T	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Pro397Ala	rs762640475	missense variant	-	NC_000019.10:g.920740C>G	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ter399Arg	RCV000030880	stop lost	Hypogonadotropic hypogonadism 8 without anosmia	NC_000019.10:g.920746T>A	ClinVar
KISS1R	Q969F8	p.Ter399Arg	rs104894702	stop lost	-	NC_000019.10:g.920746T>C	ExAC,TOPMed,gnomAD
KISS1R	Q969F8	p.Ter399Arg	rs104894702	stop lost	-	NC_000019.10:g.920746T>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ala2Glu	rs1482994789	missense variant	-	NC_000002.12:g.74472656G>T	TOPMed
MRPL53	Q96EL3	p.Ala3Thr	rs142719386	missense variant	-	NC_000002.12:g.74472654C>T	ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ala4Val	rs779401249	missense variant	-	NC_000002.12:g.74472650G>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ala4Thr	rs1047911	missense variant	-	NC_000002.12:g.74472651C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ala4Ser	rs1047911	missense variant	-	NC_000002.12:g.74472651C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ala4Asp	rs779401249	missense variant	-	NC_000002.12:g.74472650G>T	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Leu5Ser	rs980701129	missense variant	-	NC_000002.12:g.74472647A>G	TOPMed
MRPL53	Q96EL3	p.Leu5Phe	rs758825200	missense variant	-	NC_000002.12:g.74472646C>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Arg7Trp	rs150499635	missense variant	-	NC_000002.12:g.74472642G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Arg7Gly	rs150499635	missense variant	-	NC_000002.12:g.74472642G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Leu8Val	rs535547076	missense variant	-	NC_000002.12:g.74472639G>C	1000Genomes,ExAC,gnomAD
MRPL53	Q96EL3	p.Leu8Phe	rs535547076	missense variant	-	NC_000002.12:g.74472639G>A	1000Genomes,ExAC,gnomAD
MRPL53	Q96EL3	p.Gly9Cys	rs111410167	missense variant	-	NC_000002.12:g.74472636C>A	ExAC,gnomAD
MRPL53	Q96EL3	p.Gly9Arg	rs111410167	missense variant	-	NC_000002.12:g.74472636C>G	ExAC,gnomAD
MRPL53	Q96EL3	p.Gly9Val	rs772960887	missense variant	-	NC_000002.12:g.74472635C>A	ExAC,gnomAD
MRPL53	Q96EL3	p.Leu10Pro	rs142063944	missense variant	-	NC_000002.12:g.74472632A>G	ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Leu10Gln	rs142063944	missense variant	-	NC_000002.12:g.74472632A>T	ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Leu10Val	rs747987917	missense variant	-	NC_000002.12:g.74472633G>C	ExAC,gnomAD
MRPL53	Q96EL3	p.Arg11Leu	rs1305979650	missense variant	-	NC_000002.12:g.74472629C>A	gnomAD
MRPL53	Q96EL3	p.Arg11Trp	rs957046184	missense variant	-	NC_000002.12:g.74472630G>A	TOPMed
MRPL53	Q96EL3	p.Pro12His	rs968380682	missense variant	-	NC_000002.12:g.74472626G>T	TOPMed,gnomAD
MRPL53	Q96EL3	p.Pro12Leu	rs968380682	missense variant	-	NC_000002.12:g.74472626G>A	TOPMed,gnomAD
MRPL53	Q96EL3	p.Pro12Arg	rs968380682	missense variant	-	NC_000002.12:g.74472626G>C	TOPMed,gnomAD
MRPL53	Q96EL3	p.Val13Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74472623A>G	NCI-TCGA
MRPL53	Q96EL3	p.Lys14Asn	rs183536546	missense variant	-	NC_000002.12:g.74472619T>A	1000Genomes,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Gln15Pro	rs991151472	missense variant	-	NC_000002.12:g.74472617T>G	TOPMed
MRPL53	Q96EL3	p.Gln15Ter	rs747196565	stop gained	-	NC_000002.12:g.74472618G>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Gln15Glu	rs747196565	missense variant	-	NC_000002.12:g.74472618G>C	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Val16Leu	rs778079553	missense variant	-	NC_000002.12:g.74472615C>G	ExAC,gnomAD
MRPL53	Q96EL3	p.Arg17Trp	rs758633639	missense variant	-	NC_000002.12:g.74472612G>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Val18Phe	rs765591182	missense variant	-	NC_000002.12:g.74472609C>A	ExAC,gnomAD
MRPL53	Q96EL3	p.Val18Gly	rs755468918	missense variant	-	NC_000002.12:g.74472608A>C	ExAC,gnomAD
MRPL53	Q96EL3	p.Gln19His	rs765847354	missense variant	-	NC_000002.12:g.74472604C>A	ExAC,gnomAD
MRPL53	Q96EL3	p.Gln19Arg	rs754394582	missense variant	-	NC_000002.12:g.74472605T>C	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Phe20Tyr	rs760197888	missense variant	-	NC_000002.12:g.74472602A>T	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Phe20Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74472601G>T	NCI-TCGA
MRPL53	Q96EL3	p.Cys21Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74472600A>T	NCI-TCGA
MRPL53	Q96EL3	p.Phe23Leu	rs749982181	missense variant	-	NC_000002.12:g.74472594A>G	ExAC,gnomAD
MRPL53	Q96EL3	p.Phe23Val	rs749982181	missense variant	-	NC_000002.12:g.74472594A>C	ExAC,gnomAD
MRPL53	Q96EL3	p.Glu24Lys	rs1485933952	missense variant	-	NC_000002.12:g.74472591C>T	gnomAD
MRPL53	Q96EL3	p.Glu24Asp	rs1259760843	missense variant	-	NC_000002.12:g.74472589C>G	gnomAD
MRPL53	Q96EL3	p.Glu24Gln	COSM443227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74472591C>G	NCI-TCGA Cosmic
MRPL53	Q96EL3	p.Glu24Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74472589C>A	NCI-TCGA
MRPL53	Q96EL3	p.Lys25Glu	rs141704877	missense variant	-	NC_000002.12:g.74472588T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Asn26Asp	rs761435493	missense variant	-	NC_000002.12:g.74472585T>C	ExAC,gnomAD
MRPL53	Q96EL3	p.Asn26LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.74472583_74472584insC	NCI-TCGA
MRPL53	Q96EL3	p.Val27Leu	COSM3799192	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74472582C>G	NCI-TCGA Cosmic
MRPL53	Q96EL3	p.Glu28Ala	rs1303884689	missense variant	-	NC_000002.12:g.74472578T>G	gnomAD
MRPL53	Q96EL3	p.Glu28Lys	COSM2999605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74472579C>T	NCI-TCGA Cosmic
MRPL53	Q96EL3	p.Thr30Lys	rs768620975	missense variant	-	NC_000002.12:g.74472572G>T	ExAC,gnomAD
MRPL53	Q96EL3	p.Thr30Met	rs768620975	missense variant	-	NC_000002.12:g.74472572G>A	ExAC,gnomAD
MRPL53	Q96EL3	p.Arg31Lys	rs1407856775	missense variant	-	NC_000002.12:g.74472569C>T	TOPMed
MRPL53	Q96EL3	p.Arg31Ser	rs1475924365	missense variant	-	NC_000002.12:g.74472470C>G	gnomAD
MRPL53	Q96EL3	p.Thr32Asn	rs78834087	missense variant	-	NC_000002.12:g.74472468G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Phe33Ser	rs1186851817	missense variant	-	NC_000002.12:g.74472465A>G	gnomAD
MRPL53	Q96EL3	p.Phe33Leu	rs200063050	missense variant	-	NC_000002.12:g.74472464G>C	1000Genomes,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Leu34Arg	rs373576604	missense variant	-	NC_000002.12:g.74472462A>C	ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Gln35Ter	rs779139769	stop gained	-	NC_000002.12:g.74472460G>A	ExAC,gnomAD
MRPL53	Q96EL3	p.Gln35Arg	rs1307432311	missense variant	-	NC_000002.12:g.74472459T>C	gnomAD
MRPL53	Q96EL3	p.Thr36Ala	rs148007344	missense variant	-	NC_000002.12:g.74472457T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Thr36Met	rs749654917	missense variant	-	NC_000002.12:g.74472456G>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ser39Ile	rs780460509	missense variant	-	NC_000002.12:g.74472447C>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ser39Asn	rs780460509	missense variant	-	NC_000002.12:g.74472447C>T	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Glu40Asp	rs1431313097	missense variant	-	NC_000002.12:g.74472443C>G	TOPMed
MRPL53	Q96EL3	p.Glu40Asp	rs1431313097	missense variant	-	NC_000002.12:g.74472443C>A	TOPMed
MRPL53	Q96EL3	p.Glu40Gln	rs1414469378	missense variant	-	NC_000002.12:g.74472445C>G	gnomAD
MRPL53	Q96EL3	p.Lys41Asn	rs756595580	missense variant	-	NC_000002.12:g.74472440C>G	ExAC,gnomAD
MRPL53	Q96EL3	p.Lys41Glu	rs1400305026	missense variant	-	NC_000002.12:g.74472442T>C	gnomAD
MRPL53	Q96EL3	p.Val42Ile	rs746411133	missense variant	-	NC_000002.12:g.74472439C>T	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Val42Gly	rs1158082601	missense variant	-	NC_000002.12:g.74472438A>C	TOPMed
MRPL53	Q96EL3	p.Val42Phe	rs746411133	missense variant	-	NC_000002.12:g.74472439C>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Arg43Gly	rs780721569	missense variant	-	NC_000002.12:g.74472436G>C	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Arg43Cys	rs780721569	missense variant	-	NC_000002.12:g.74472436G>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ser44Phe	rs553484653	missense variant	-	NC_000002.12:g.74472432G>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Thr45Ser	rs751976686	missense variant	-	NC_000002.12:g.74472430T>A	TOPMed,gnomAD
MRPL53	Q96EL3	p.Thr45Asn	rs1386840178	missense variant	-	NC_000002.12:g.74472429G>T	TOPMed
MRPL53	Q96EL3	p.Thr45Ala	rs751976686	missense variant	-	NC_000002.12:g.74472430T>C	TOPMed,gnomAD
MRPL53	Q96EL3	p.Asn46Asp	rs1462546231	missense variant	-	NC_000002.12:g.74472427T>C	gnomAD
MRPL53	Q96EL3	p.Asn46ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.74472425_74472426AT>-	NCI-TCGA
MRPL53	Q96EL3	p.Asn48Ser	rs751173436	missense variant	-	NC_000002.12:g.74472420T>C	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Cys49Phe	COSM1409584	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.74472417C>A	NCI-TCGA Cosmic
MRPL53	Q96EL3	p.Ser50Pro	rs763855401	missense variant	-	NC_000002.12:g.74472415A>G	ExAC,gnomAD
MRPL53	Q96EL3	p.Ile52Met	rs148457004	missense variant	-	NC_000002.12:g.74472407A>C	ESP,ExAC,gnomAD
MRPL53	Q96EL3	p.Arg56Lys	rs1317760857	missense variant	-	NC_000002.12:g.74472396C>T	TOPMed
MRPL53	Q96EL3	p.Arg56Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.74472395C>G	NCI-TCGA
MRPL53	Q96EL3	p.Asp58Glu	rs767597639	missense variant	-	NC_000002.12:g.74472389G>C	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Asp58Tyr	rs114954370	missense variant	-	NC_000002.12:g.74472391C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Asp58Gly	rs776477681	missense variant	-	NC_000002.12:g.74472390T>C	ExAC,gnomAD
MRPL53	Q96EL3	p.Gly59Ser	rs771006399	missense variant	-	NC_000002.12:g.74472388C>T	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Gly59Arg	rs771006399	missense variant	-	NC_000002.12:g.74472388C>G	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ser60Phe	rs1187269862	missense variant	-	NC_000002.12:g.74472384G>A	TOPMed,gnomAD
MRPL53	Q96EL3	p.Ser60Pro	rs1354535630	missense variant	-	NC_000002.12:g.74472385A>G	gnomAD
MRPL53	Q96EL3	p.Glu61Asp	rs1240177821	missense variant	-	NC_000002.12:g.74472380C>G	gnomAD
MRPL53	Q96EL3	p.Pro62Ser	rs1420639045	missense variant	-	NC_000002.12:g.74472379G>A	TOPMed
MRPL53	Q96EL3	p.Cys63Ser	rs150665596	missense variant	-	NC_000002.12:g.74472375C>G	ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Cys63Tyr	rs150665596	missense variant	-	NC_000002.12:g.74472375C>T	ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Val66Met	rs746344630	missense variant	-	NC_000002.12:g.74472367C>T	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Leu67Pro	rs1164880190	missense variant	-	NC_000002.12:g.74472363A>G	TOPMed
MRPL53	Q96EL3	p.Gly69Arg	rs1409668038	missense variant	-	NC_000002.12:g.74472358C>T	gnomAD
MRPL53	Q96EL3	p.Gly69Val	rs746229425	missense variant	-	NC_000002.12:g.74472252C>A	ExAC,gnomAD
MRPL53	Q96EL3	p.Gly71Arg	rs377509724	missense variant	-	NC_000002.12:g.74472247C>G	ESP,gnomAD
MRPL53	Q96EL3	p.Arg73Cys	rs202083153	missense variant	-	NC_000002.12:g.74472241G>A	TOPMed,gnomAD
MRPL53	Q96EL3	p.Ile75Thr	rs747766347	missense variant	-	NC_000002.12:g.74472234A>G	ExAC,gnomAD
MRPL53	Q96EL3	p.Ile75Met	rs1374693627	missense variant	-	NC_000002.12:g.74472233A>C	TOPMed,gnomAD
MRPL53	Q96EL3	p.Ile75Leu	rs771752993	missense variant	-	NC_000002.12:g.74472235T>G	ExAC,gnomAD
MRPL53	Q96EL3	p.Met76Arg	rs1355606615	missense variant	-	NC_000002.12:g.74472231A>C	TOPMed
MRPL53	Q96EL3	p.Arg77Cys	rs868535628	missense variant	-	NC_000002.12:g.74472229G>A	TOPMed
MRPL53	Q96EL3	p.Leu81Arg	rs1421673367	missense variant	-	NC_000002.12:g.74472216A>C	gnomAD
MRPL53	Q96EL3	p.Thr82Asn	rs1477557979	missense variant	-	NC_000002.12:g.74472213G>T	TOPMed,gnomAD
MRPL53	Q96EL3	p.Thr82Ala	rs1187213783	missense variant	-	NC_000002.12:g.74472214T>C	gnomAD
MRPL53	Q96EL3	p.Ala83Thr	rs1190409843	missense variant	-	NC_000002.12:g.74472211C>T	gnomAD
MRPL53	Q96EL3	p.Met86Val	rs1237275435	missense variant	-	NC_000002.12:g.74472202T>C	gnomAD
MRPL53	Q96EL3	p.Met86Ile	rs1208570176	missense variant	-	NC_000002.12:g.74472200C>A	gnomAD
MRPL53	Q96EL3	p.Ser92Phe	rs925154921	missense variant	-	NC_000002.12:g.74472183G>A	TOPMed,gnomAD
MRPL53	Q96EL3	p.Ser92Pro	rs574615587	missense variant	-	NC_000002.12:g.74472184A>G	1000Genomes,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ile94Thr	rs750396824	missense variant	-	NC_000002.12:g.74472177A>G	ExAC,gnomAD
MRPL53	Q96EL3	p.Arg95Pro	rs764118872	missense variant	-	NC_000002.12:g.74472174C>G	ExAC
MRPL53	Q96EL3	p.Arg97Gly	rs763042946	missense variant	-	NC_000002.12:g.74472169T>C	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Asp98Glu	rs752856417	missense variant	-	NC_000002.12:g.74472164G>C	ExAC,gnomAD
MRPL53	Q96EL3	p.Ala99Val	rs999211261	missense variant	-	NC_000002.12:g.74472162G>A	TOPMed
MRPL53	Q96EL3	p.Ala100Val	rs11554617	missense variant	-	NC_000002.12:g.74472159G>A	1000Genomes,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Gly101Ala	rs776847633	missense variant	-	NC_000002.12:g.74472156C>G	ExAC,gnomAD
MRPL53	Q96EL3	p.Gly101Cys	rs375317196	missense variant	-	NC_000002.12:g.74472157C>A	ESP,ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Gly101Asp	rs776847633	missense variant	-	NC_000002.12:g.74472156C>T	ExAC,gnomAD
MRPL53	Q96EL3	p.Ser102Arg	rs769782494	missense variant	-	NC_000002.12:g.74472154T>G	gnomAD
MRPL53	Q96EL3	p.Gly103Glu	rs1421664112	missense variant	-	NC_000002.12:g.74472150C>T	TOPMed,gnomAD
MRPL53	Q96EL3	p.Pro106Ser	rs761235979	missense variant	-	NC_000002.12:g.74472142G>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Pro106Thr	rs761235979	missense variant	-	NC_000002.12:g.74472142G>T	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Pro106Leu	rs773890839	missense variant	-	NC_000002.12:g.74472141G>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Gly107Asp	rs760626014	missense variant	-	NC_000002.12:g.74472138C>T	TOPMed,gnomAD
MRPL53	Q96EL3	p.Asp109Val	rs778549382	missense variant	-	NC_000002.12:g.74472132T>A	ExAC,gnomAD
MRPL53	Q96EL3	p.Thr110Ala	rs541034466	missense variant	-	NC_000002.12:g.74472130T>C	1000Genomes
MRPL53	Q96EL3	p.Arg112Pro	rs994442221	missense variant	-	NC_000002.12:g.74472123C>G	TOPMed
MRPL53	Q96EL3	p.Arg112Cys	rs749014275	missense variant	-	NC_000002.12:g.74472124G>A	ExAC,TOPMed,gnomAD
MRPL53	Q96EL3	p.Ter113Leu	rs779678862	stop lost	-	NC_000002.12:g.74472120C>A	ExAC,gnomAD
DISP1	Q96F81	p.Ala2Thr	rs369354573	missense variant	-	NC_000001.11:g.222942827G>A	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Met3Val	rs199657728	missense variant	-	NC_000001.11:g.222942830A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met3Ile	rs748317167	missense variant	-	NC_000001.11:g.222942832G>C	ExAC,gnomAD
DISP1	Q96F81	p.Met3Ile	rs748317167	missense variant	-	NC_000001.11:g.222942832G>A	ExAC,gnomAD
DISP1	Q96F81	p.Met3Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222942832G>T	NCI-TCGA
DISP1	Q96F81	p.Ser4Asn	rs1226758143	missense variant	-	NC_000001.11:g.222942834G>A	gnomAD
DISP1	Q96F81	p.Ser4Arg	rs771974470	missense variant	-	NC_000001.11:g.222942835C>A	ExAC
DISP1	Q96F81	p.Gly6Arg	rs773172344	missense variant	-	NC_000001.11:g.222942839G>A	ExAC,gnomAD
DISP1	Q96F81	p.Asn7Ser	rs1264371062	missense variant	-	NC_000001.11:g.222942843A>G	TOPMed
DISP1	Q96F81	p.Asn8Lys	rs760420710	missense variant	-	NC_000001.11:g.222942847T>G	ExAC,gnomAD
DISP1	Q96F81	p.Asn8Ser	rs945991954	missense variant	-	NC_000001.11:g.222942846A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Asp9Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222942848G>A	NCI-TCGA
DISP1	Q96F81	p.Asn15Ser	COSM904341	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942867A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser16Ile	rs1272203931	missense variant	-	NC_000001.11:g.222942870G>T	TOPMed
DISP1	Q96F81	p.Ala19Glu	rs759111627	missense variant	-	NC_000001.11:g.222942879C>A	ExAC,gnomAD
DISP1	Q96F81	p.Ala19Thr	rs776285881	missense variant	-	NC_000001.11:g.222942878G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr20Ile	rs1166585916	missense variant	-	NC_000001.11:g.222942882C>T	gnomAD
DISP1	Q96F81	p.Ser21Asn	rs765003653	missense variant	-	NC_000001.11:g.222942885G>A	ExAC,gnomAD
DISP1	Q96F81	p.Ala22Ser	rs1404175058	missense variant	-	NC_000001.11:g.222942887G>T	gnomAD
DISP1	Q96F81	p.Ala23Thr	rs1055612586	missense variant	-	NC_000001.11:g.222942890G>A	TOPMed
DISP1	Q96F81	p.Asn24Ser	rs752139858	missense variant	-	NC_000001.11:g.222942894A>G	ExAC
DISP1	Q96F81	p.Pro25Arg	rs149713388	missense variant	-	NC_000001.11:g.222942897C>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro25Leu	rs149713388	missense variant	-	NC_000001.11:g.222942897C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro25Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222942896C>T	NCI-TCGA
DISP1	Q96F81	p.Ser26Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222942899A>G	NCI-TCGA
DISP1	Q96F81	p.Thr29Asn	rs756499874	missense variant	-	NC_000001.11:g.222942909C>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr29Ile	rs756499874	missense variant	-	NC_000001.11:g.222942909C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro30His	rs780297875	missense variant	-	NC_000001.11:g.222942912C>A	ExAC,TOPMed
DISP1	Q96F81	p.Pro30Arg	rs780297875	missense variant	-	NC_000001.11:g.222942912C>G	ExAC,TOPMed
DISP1	Q96F81	p.Pro30Leu	RCV000486495	missense variant	-	NC_000001.11:g.222942912C>T	ClinVar
DISP1	Q96F81	p.Pro30Leu	rs780297875	missense variant	-	NC_000001.11:g.222942912C>T	ExAC,TOPMed
DISP1	Q96F81	p.Cys31Ser	rs1408251074	missense variant	-	NC_000001.11:g.222942915G>C	gnomAD
DISP1	Q96F81	p.Cys31LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.222942908_222942909insC	NCI-TCGA
DISP1	Q96F81	p.Asp32Glu	rs1182357031	missense variant	-	NC_000001.11:g.222942919T>A	TOPMed
DISP1	Q96F81	p.Asp32Gly	rs1267517015	missense variant	-	NC_000001.11:g.222942918A>G	TOPMed
DISP1	Q96F81	p.Gly33Arg	rs779245155	missense variant	-	NC_000001.11:g.222942920G>A	ExAC,gnomAD
DISP1	Q96F81	p.Asp34Asn	COSM4837388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942923G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ala36Val	rs1039246234	missense variant	-	NC_000001.11:g.222942930C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Ala36Thr	rs772168488	missense variant	-	NC_000001.11:g.222942929G>A	ExAC,gnomAD
DISP1	Q96F81	p.Gln39His	rs746958106	missense variant	-	NC_000001.11:g.222942940G>C	ExAC,gnomAD
DISP1	Q96F81	p.Leu40Pro	rs1250829264	missense variant	-	NC_000001.11:g.222942942T>C	gnomAD
DISP1	Q96F81	p.Glu44Asp	rs770641865	missense variant	-	NC_000001.11:g.222942955A>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu44Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222942953G>A	NCI-TCGA
DISP1	Q96F81	p.Glu44Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222942953G>C	NCI-TCGA
DISP1	Q96F81	p.Thr46Ala	rs776280819	missense variant	-	NC_000001.11:g.222942959A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr48Ala	rs759438331	missense variant	-	NC_000001.11:g.222942965A>G	ExAC,gnomAD
DISP1	Q96F81	p.Pro52Leu	rs372895287	missense variant	-	NC_000001.11:g.222942978C>T	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Pro52Gln	rs372895287	missense variant	-	NC_000001.11:g.222942978C>A	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Pro52Ser	COSM3789517	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942977C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Gly54Glu	COSM2149709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942984G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Cys55Ser	rs775251089	missense variant	-	NC_000001.11:g.222942986T>A	ExAC,TOPMed
DISP1	Q96F81	p.Cys55Tyr	rs762515193	missense variant	-	NC_000001.11:g.222942987G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Leu58His	rs1289067400	missense variant	-	NC_000001.11:g.222942996T>A	TOPMed
DISP1	Q96F81	p.Asn59Ser	COSM4837605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942999A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Gly60Val	rs201903516	missense variant	-	NC_000001.11:g.222943002G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr61Met	rs146408462	missense variant	-	NC_000001.11:g.222943005C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr61Arg	rs146408462	missense variant	-	NC_000001.11:g.222943005C>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp70Gly	rs1234026222	missense variant	-	NC_000001.11:g.222943032A>G	gnomAD
DISP1	Q96F81	p.Asn71Ser	rs914824165	missense variant	-	NC_000001.11:g.222943035A>G	TOPMed
DISP1	Q96F81	p.Gln72Lys	rs755409410	missense variant	-	NC_000001.11:g.222943037C>A	ExAC,TOPMed
DISP1	Q96F81	p.Gln76Glu	COSM3804012	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222943049C>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Gln76Pro	rs1282532859	missense variant	-	NC_000001.11:g.222943050A>C	gnomAD
DISP1	Q96F81	p.Gln76His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222943051G>C	NCI-TCGA
DISP1	Q96F81	p.Met77Ile	rs575300297	missense variant	-	NC_000001.11:g.222943054G>A	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met77Leu	rs752936308	missense variant	-	NC_000001.11:g.222943052A>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Leu78Ter	rs1273739150	stop gained	-	NC_000001.11:g.222943056T>A	gnomAD
DISP1	Q96F81	p.Cys81Gly	rs1339885456	missense variant	-	NC_000001.11:g.222943064T>G	gnomAD
DISP1	Q96F81	p.Cys85Tyr	rs777831995	missense variant	-	NC_000001.11:g.222943077G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr87Ser	rs747155948	missense variant	-	NC_000001.11:g.222943083A>C	ExAC
DISP1	Q96F81	p.His88Arg	rs1184905383	missense variant	-	NC_000001.11:g.222943086A>G	gnomAD
DISP1	Q96F81	p.His89Pro	rs781243506	missense variant	-	NC_000001.11:g.222943089A>C	ExAC,gnomAD
DISP1	Q96F81	p.Pro90Arg	rs1189853604	missense variant	-	NC_000001.11:g.222943092C>G	TOPMed,gnomAD
DISP1	Q96F81	p.Thr92Ser	rs141066173	missense variant	-	NC_000001.11:g.222943098C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr92Ile	rs141066173	missense variant	-	NC_000001.11:g.222943098C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr92Pro	rs1390087135	missense variant	-	NC_000001.11:g.222943097A>C	gnomAD
DISP1	Q96F81	p.Ser93Asn	rs1198589516	missense variant	-	NC_000001.11:g.222943101G>A	TOPMed
DISP1	Q96F81	p.His94Arg	rs370793131	missense variant	-	NC_000001.11:g.222943104A>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.His94Tyr	rs774959288	missense variant	-	NC_000001.11:g.222943103C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ser96Thr	rs181998645	missense variant	-	NC_000001.11:g.222943110G>C	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.His97Gln	rs759715045	missense variant	-	NC_000001.11:g.222943114C>A	gnomAD
DISP1	Q96F81	p.Gln98Arg	rs1435894311	missense variant	-	NC_000001.11:g.222943116A>G	gnomAD
DISP1	Q96F81	p.Cys100Arg	COSM4856500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222943121T>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu103Asp	rs2789975	missense variant	-	NC_000001.11:g.222943132G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu103Lys	rs2609383	missense variant	-	NC_000001.11:g.222943130G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu103Lys	RCV000755508	missense variant	-	NC_000001.11:g.222943130G>A	ClinVar
DISP1	Q96F81	p.Glu103Asp	RCV000244588	missense variant	-	NC_000001.11:g.222943132G>T	ClinVar
DISP1	Q96F81	p.Glu103Asp	RCV000755507	missense variant	-	NC_000001.11:g.222943132G>T	ClinVar
DISP1	Q96F81	p.Glu103Lys	RCV000251551	missense variant	-	NC_000001.11:g.222943130G>A	ClinVar
DISP1	Q96F81	p.Ala104Thr	rs759769595	missense variant	-	NC_000001.11:g.222943133G>A	ExAC,gnomAD
DISP1	Q96F81	p.Pro106Ser	rs1030829165	missense variant	-	NC_000001.11:g.222943139C>T	-
DISP1	Q96F81	p.Ala108Val	rs1477192306	missense variant	-	NC_000001.11:g.222943146C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Leu112Val	rs1235194863	missense variant	-	NC_000001.11:g.222943157T>G	gnomAD
DISP1	Q96F81	p.Ser114Leu	rs765644354	missense variant	-	NC_000001.11:g.222943164C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Cys116Ser	rs561632585	missense variant	-	NC_000001.11:g.222943170G>C	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Met117Val	rs139988084	missense variant	-	NC_000001.11:g.222943172A>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met117Ile	rs1448240267	missense variant	-	NC_000001.11:g.222943174G>A	gnomAD
DISP1	Q96F81	p.Met117Thr	rs1247998622	missense variant	-	NC_000001.11:g.222943173T>C	TOPMed,gnomAD
DISP1	Q96F81	p.Gln118Arg	rs1409103350	missense variant	-	NC_000001.11:g.222943176A>G	TOPMed
DISP1	Q96F81	p.Ser121Pro	rs757403085	missense variant	-	NC_000001.11:g.222943184T>C	ExAC,gnomAD
DISP1	Q96F81	p.Glu122Lys	rs199996623	missense variant	-	NC_000001.11:g.222943187G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr123Cys	rs1391084086	missense variant	-	NC_000001.11:g.222943191A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Ala125Thr	rs780002500	missense variant	-	NC_000001.11:g.222943196G>A	ExAC,gnomAD
DISP1	Q96F81	p.Ser126Cys	rs749163609	missense variant	-	NC_000001.11:g.222943200C>G	ExAC,gnomAD
DISP1	Q96F81	p.Leu127Pro	rs768411152	missense variant	-	NC_000001.11:g.222943203T>C	ExAC,gnomAD
DISP1	Q96F81	p.Pro129Leu	rs774186525	missense variant	-	NC_000001.11:g.222943209C>T	ExAC,gnomAD
DISP1	Q96F81	p.Pro129Ser	rs1330371769	missense variant	-	NC_000001.11:g.222943208C>T	gnomAD
DISP1	Q96F81	p.His131Tyr	rs764268729	missense variant	-	NC_000001.11:g.222943214C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Ser132CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.222943217_222943218insGTTTCCATTG	NCI-TCGA
DISP1	Q96F81	p.Pro133Ser	COSM3484020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222943220C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Thr137Pro	rs747621587	missense variant	-	NC_000001.11:g.222943232A>C	ExAC,gnomAD
DISP1	Q96F81	p.Thr137Ala	rs747621587	missense variant	-	NC_000001.11:g.222943232A>G	ExAC,gnomAD
DISP1	Q96F81	p.Thr138Ala	rs771632180	missense variant	-	NC_000001.11:g.222943235A>G	ExAC,gnomAD
DISP1	Q96F81	p.Thr138Lys	rs375843368	missense variant	-	NC_000001.11:g.222943236C>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr138Met	rs375843368	missense variant	-	NC_000001.11:g.222943236C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Cys140Tyr	rs770735865	missense variant	-	NC_000001.11:g.222943242G>A	ExAC,gnomAD
DISP1	Q96F81	p.Gln142Arg	rs764273909	missense variant	-	NC_000001.11:g.222943248A>G	ExAC,gnomAD
DISP1	Q96F81	p.Gln142Leu	rs764273909	missense variant	-	NC_000001.11:g.222943248A>T	ExAC,gnomAD
DISP1	Q96F81	p.Pro143Ala	rs1339802723	missense variant	-	NC_000001.11:g.222943250C>G	gnomAD
DISP1	Q96F81	p.Pro145Ser	rs751815306	missense variant	-	NC_000001.11:g.222943256C>T	ExAC,gnomAD
DISP1	Q96F81	p.Pro145Gln	rs1415464768	missense variant	-	NC_000001.11:g.222943257C>A	gnomAD
DISP1	Q96F81	p.Ser146Cys	rs1283635640	missense variant	-	NC_000001.11:g.222943260C>G	TOPMed
DISP1	Q96F81	p.Ser146IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.222943258_222943259insAT	NCI-TCGA
DISP1	Q96F81	p.Ser146Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222943260C>T	NCI-TCGA
DISP1	Q96F81	p.Ser146IlePheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000001.11:g.222943258_222943259insATTTCTTGACTCTAAG	NCI-TCGA
DISP1	Q96F81	p.Phe147Leu	rs568941661	missense variant	-	NC_000001.11:g.222943262T>C	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Cys148Tyr	rs1414515828	missense variant	-	NC_000001.11:g.222943266G>A	gnomAD
DISP1	Q96F81	p.His151Arg	rs1158642729	missense variant	-	NC_000001.11:g.222943275A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Pro152Leu	rs148843202	missense variant	-	NC_000001.11:g.222943278C>T	ESP,gnomAD
DISP1	Q96F81	p.Asp155His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222943286G>C	NCI-TCGA
DISP1	Q96F81	p.His156Asp	rs750263285	missense variant	-	NC_000001.11:g.222943289C>G	ExAC,gnomAD
DISP1	Q96F81	p.Gln158His	rs780198794	missense variant	-	NC_000001.11:g.222943297G>C	ExAC,gnomAD
DISP1	Q96F81	p.Gln158Ter	rs374752363	stop gained	-	NC_000001.11:g.222943295C>T	ESP,ExAC,gnomAD
DISP1	Q96F81	p.His159Gln	rs749070743	missense variant	-	NC_000001.11:g.222943300T>A	ExAC,gnomAD
DISP1	Q96F81	p.His159Tyr	rs1282585216	missense variant	-	NC_000001.11:g.222943298C>T	TOPMed
DISP1	Q96F81	p.Gln160Arg	rs142527280	missense variant	-	NC_000001.11:g.222943302A>G	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Gln160His	rs778660148	missense variant	-	NC_000001.11:g.222943303G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val162Gly	rs1227920864	missense variant	-	NC_000001.11:g.222943308T>G	gnomAD
DISP1	Q96F81	p.Gln163Arg	rs747848425	missense variant	-	NC_000001.11:g.222943311A>G	ExAC,gnomAD
DISP1	Q96F81	p.Gln164Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222943313C>A	NCI-TCGA
DISP1	Q96F81	p.Ala167Thr	rs777330970	missense variant	-	NC_000001.11:g.222943322G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn168Ser	rs746554264	missense variant	-	NC_000001.11:g.222943326A>G	ExAC,gnomAD
DISP1	Q96F81	p.Asn168Asp	COSM904343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222943325A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Pro171Ser	rs1433486331	missense variant	-	NC_000001.11:g.222983081C>T	gnomAD
DISP1	Q96F81	p.Ser172Phe	rs1426746846	missense variant	-	NC_000001.11:g.222983085C>T	gnomAD
DISP1	Q96F81	p.Pro174Ser	rs1486445650	missense variant	-	NC_000001.11:g.222983090C>T	TOPMed
DISP1	Q96F81	p.Lys176Thr	rs548262612	missense variant	-	NC_000001.11:g.222983097A>C	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys176Arg	rs548262612	missense variant	-	NC_000001.11:g.222983097A>G	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser180Asn	COSM3484022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222983109G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser180ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.222983104A>-	NCI-TCGA
DISP1	Q96F81	p.Tyr181Ter	RCV000489132	nonsense	-	NC_000001.11:g.222990628T>G	ClinVar
DISP1	Q96F81	p.Tyr181Ter	rs1159371502	stop gained	-	NC_000001.11:g.222990627dup	gnomAD
DISP1	Q96F81	p.Tyr181Ter	rs1085307664	stop gained	-	NC_000001.11:g.222990628T>G	-
DISP1	Q96F81	p.Ala183Gly	rs1410595435	missense variant	-	NC_000001.11:g.222990633C>G	gnomAD
DISP1	Q96F81	p.Ile185Thr	rs1398450264	missense variant	-	NC_000001.11:g.222990639T>C	TOPMed,gnomAD
DISP1	Q96F81	p.Ile185Lys	rs1398450264	missense variant	-	NC_000001.11:g.222990639T>A	TOPMed,gnomAD
DISP1	Q96F81	p.Asp187Asn	rs758163679	missense variant	-	NC_000001.11:g.222990644G>A	ExAC,gnomAD
DISP1	Q96F81	p.Asp187Asn	RCV000508451	missense variant	-	NC_000001.11:g.222990644G>A	ClinVar
DISP1	Q96F81	p.Pro189Leu	rs200321673	missense variant	-	NC_000001.11:g.222990651C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met195Val	rs780687540	missense variant	-	NC_000001.11:g.222990668A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met198Val	rs141893648	missense variant	-	NC_000001.11:g.222990677A>G	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Met198Thr	rs1222122275	missense variant	-	NC_000001.11:g.222990678T>C	gnomAD
DISP1	Q96F81	p.Phe199Leu	rs779338301	missense variant	-	NC_000001.11:g.222990682C>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile200Val	rs763882525	missense variant	-	NC_000001.11:g.222990683A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Ile200Leu	rs763882525	missense variant	-	NC_000001.11:g.222990683A>C	TOPMed,gnomAD
DISP1	Q96F81	p.Val201Ile	rs772344845	missense variant	-	NC_000001.11:g.222990686G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val206Gly	rs747237302	missense variant	-	NC_000001.11:g.222990702T>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly207Arg	rs771344437	missense variant	-	NC_000001.11:g.222990704G>C	ExAC,gnomAD
DISP1	Q96F81	p.Gly207Arg	rs771344437	missense variant	-	NC_000001.11:g.222990704G>A	ExAC,gnomAD
DISP1	Q96F81	p.Gly207Glu	rs776835126	missense variant	-	NC_000001.11:g.222990705G>A	ExAC,gnomAD
DISP1	Q96F81	p.Gly207Arg	RCV000489127	missense variant	-	NC_000001.11:g.222990704G>C	ClinVar
DISP1	Q96F81	p.Val208Ile	rs1036833872	missense variant	-	NC_000001.11:g.222990707G>A	TOPMed
DISP1	Q96F81	p.Pro211Ser	rs765185865	missense variant	-	NC_000001.11:g.222990716C>T	ExAC,gnomAD
DISP1	Q96F81	p.Glu212Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222990719G>A	NCI-TCGA
DISP1	Q96F81	p.Asp215Val	rs200769559	missense variant	-	NC_000001.11:g.222990729A>T	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Asp215Glu	rs763811112	missense variant	-	NC_000001.11:g.222990730C>A	ExAC,gnomAD
DISP1	Q96F81	p.Phe216Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222990733C>A	NCI-TCGA
DISP1	Q96F81	p.Ser217Cys	rs1351765998	missense variant	-	NC_000001.11:g.222990735C>G	TOPMed
DISP1	Q96F81	p.Asp218Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222990737G>A	NCI-TCGA
DISP1	Q96F81	p.Pro219Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222990741C>T	NCI-TCGA
DISP1	Q96F81	p.Leu221Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222990747T>C	NCI-TCGA
DISP1	Q96F81	p.Pro225Ala	rs1451766512	missense variant	-	NC_000001.11:g.222991529C>G	gnomAD
DISP1	Q96F81	p.Gly227Val	rs1169659747	missense variant	-	NC_000001.11:g.222991536G>T	gnomAD
DISP1	Q96F81	p.Thr228Ile	rs1396165528	missense variant	-	NC_000001.11:g.222991539C>T	gnomAD
DISP1	Q96F81	p.Thr228Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222991538A>G	NCI-TCGA
DISP1	Q96F81	p.Ala229Glu	rs1253829916	missense variant	-	NC_000001.11:g.222991542C>A	TOPMed
DISP1	Q96F81	p.Ala229Thr	rs369774406	missense variant	-	NC_000001.11:g.222991541G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly231Ser	rs769789077	missense variant	-	NC_000001.11:g.222991547G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly231Asp	rs775443445	missense variant	-	NC_000001.11:g.222991548G>A	ExAC,gnomAD
DISP1	Q96F81	p.Leu234Phe	rs1367226938	missense variant	-	NC_000001.11:g.222991558G>T	TOPMed,gnomAD
DISP1	Q96F81	p.Val235Ile	rs1228999071	missense variant	-	NC_000001.11:g.222991559G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Thr236Ile	rs935748101	missense variant	-	NC_000001.11:g.222991563C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Met240Ile	rs1436275589	missense variant	-	NC_000001.11:g.222991576G>A	TOPMed
DISP1	Q96F81	p.Met240Thr	rs1278885073	missense variant	-	NC_000001.11:g.222991575T>C	TOPMed,gnomAD
DISP1	Q96F81	p.Met240Lys	rs1278885073	missense variant	-	NC_000001.11:g.222991575T>A	TOPMed,gnomAD
DISP1	Q96F81	p.Asn243IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.222991580A>-	NCI-TCGA
DISP1	Q96F81	p.Gly245Glu	rs1201205544	missense variant	-	NC_000001.11:g.222991590G>A	gnomAD
DISP1	Q96F81	p.Tyr246His	rs146011091	missense variant	-	NC_000001.11:g.222991592T>C	ESP,TOPMed
DISP1	Q96F81	p.Lys247Glu	rs139954139	missense variant	-	NC_000001.11:g.222991595A>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys247Asn	rs767128370	missense variant	-	NC_000001.11:g.222991597A>C	ExAC,gnomAD
DISP1	Q96F81	p.Ala248Val	RCV000453630	missense variant	Holoprosencephaly sequence (HPE)	NC_000001.11:g.222991599C>T	ClinVar
DISP1	Q96F81	p.Ala248Val	rs1029577112	missense variant	-	NC_000001.11:g.222991599C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Ala251Val	rs1372873913	missense variant	-	NC_000001.11:g.222991608C>T	gnomAD
DISP1	Q96F81	p.Asn252Ser	rs1174595140	missense variant	-	NC_000001.11:g.222991611A>G	gnomAD
DISP1	Q96F81	p.Asn252Tyr	rs1474630324	missense variant	-	NC_000001.11:g.222991610A>T	gnomAD
DISP1	Q96F81	p.Pro254Thr	rs1426111882	missense variant	-	NC_000001.11:g.222991616C>A	gnomAD
DISP1	Q96F81	p.Pro254Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222991616C>T	NCI-TCGA
DISP1	Q96F81	p.Phe255Leu	rs1390859742	missense variant	-	NC_000001.11:g.222991621T>G	gnomAD
DISP1	Q96F81	p.Phe255Val	rs750108742	missense variant	-	NC_000001.11:g.222991619T>G	ExAC,gnomAD
DISP1	Q96F81	p.Phe255Ser	rs1334823448	missense variant	-	NC_000001.11:g.222991620T>C	gnomAD
DISP1	Q96F81	p.Lys256Glu	rs1435740025	missense variant	-	NC_000001.11:g.222991622A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Ala258Val	rs1163271120	missense variant	-	NC_000001.11:g.222991629C>T	TOPMed
DISP1	Q96F81	p.Gln261Lys	rs765810079	missense variant	-	NC_000001.11:g.222991637C>A	ExAC,gnomAD
DISP1	Q96F81	p.Lys263Glu	rs753454767	missense variant	-	NC_000001.11:g.222991643A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ser264Arg	rs760238254	missense variant	-	NC_000001.11:g.222992013C>G	ExAC,gnomAD
DISP1	Q96F81	p.Ser264AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.222991643A>-	NCI-TCGA
DISP1	Q96F81	p.His265Arg	rs577346199	missense variant	-	NC_000001.11:g.222992015A>G	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Arg266Trp	rs753264273	missense variant	-	NC_000001.11:g.222992017C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg266Gln	rs760606200	missense variant	-	NC_000001.11:g.222992018G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Arg266Gly	rs753264273	missense variant	-	NC_000001.11:g.222992017C>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp267His	rs764652585	missense variant	-	NC_000001.11:g.222992020G>C	ExAC,gnomAD
DISP1	Q96F81	p.Asp267Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222992021A>G	NCI-TCGA
DISP1	Q96F81	p.Arg269Gly	rs1254227365	missense variant	-	NC_000001.11:g.222992026A>G	gnomAD
DISP1	Q96F81	p.Trp270Ter	COSM904345	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.222992031G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Asp272His	rs752131351	missense variant	-	NC_000001.11:g.222992035G>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr275Cys	rs757641681	missense variant	-	NC_000001.11:g.222992045A>G	ExAC,gnomAD
DISP1	Q96F81	p.Arg277Ter	rs1484195978	stop gained	-	NC_000001.11:g.222992050A>T	TOPMed
DISP1	Q96F81	p.Lys279Arg	COSM3484024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222992057A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu281Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.222992062G>T	NCI-TCGA
DISP1	Q96F81	p.Val282Phe	rs764160721	missense variant	-	NC_000001.11:g.222992065G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Trp284Ter	rs1218007215	stop gained	-	NC_000001.11:g.222992072G>A	TOPMed
DISP1	Q96F81	p.Trp284Ter	rs79910153	stop gained	-	NC_000001.11:g.222992073G>A	-
DISP1	Q96F81	p.Trp284Arg	rs1281122889	missense variant	-	NC_000001.11:g.222992071T>C	TOPMed
DISP1	Q96F81	p.Asn285Ser	rs753705345	missense variant	-	NC_000001.11:g.222992075A>G	ExAC,gnomAD
DISP1	Q96F81	p.Phe286Leu	rs749297185	missense variant	-	NC_000001.11:g.222992077T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.His287Leu	rs369007028	missense variant	-	NC_000001.11:g.222992081A>T	ESP,ExAC,gnomAD
DISP1	Q96F81	p.His287Tyr	rs778775128	missense variant	-	NC_000001.11:g.222992080C>T	ExAC,gnomAD
DISP1	Q96F81	p.His287Gln	rs1282096561	missense variant	-	NC_000001.11:g.222992082C>G	TOPMed
DISP1	Q96F81	p.Phe291Cys	rs772977935	missense variant	-	NC_000001.11:g.222992093T>G	ExAC,gnomAD
DISP1	Q96F81	p.Phe292Ser	rs760566329	missense variant	-	NC_000001.11:g.222992096T>C	ExAC,gnomAD
DISP1	Q96F81	p.Phe292Cys	rs760566329	missense variant	-	NC_000001.11:g.222992096T>G	ExAC,gnomAD
DISP1	Q96F81	p.Phe292Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222992097C>A	NCI-TCGA
DISP1	Q96F81	p.Cys293Tyr	rs770456061	missense variant	-	NC_000001.11:g.222992099G>A	ExAC,gnomAD
DISP1	Q96F81	p.Asp294Gly	rs764850811	missense variant	-	NC_000001.11:g.222992102A>G	ExAC,gnomAD
DISP1	Q96F81	p.Asp294Asn	rs758918841	missense variant	-	NC_000001.11:g.222992101G>A	ExAC,gnomAD
DISP1	Q96F81	p.Val295Ile	rs762408805	missense variant	-	NC_000001.11:g.222992104G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro296Leu	rs768200763	missense variant	-	NC_000001.11:g.222992108C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ser297Gly	rs1170292930	missense variant	-	NC_000001.11:g.222992110A>G	gnomAD
DISP1	Q96F81	p.Asp298Gly	rs1457890558	missense variant	-	NC_000001.11:g.222994888A>G	TOPMed
DISP1	Q96F81	p.Arg299Pro	rs766781897	missense variant	-	NC_000001.11:g.222994891G>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg299Gln	rs766781897	missense variant	-	NC_000001.11:g.222994891G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg299Ter	rs773799838	stop gained	-	NC_000001.11:g.222994890C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg299Gly	rs773799838	missense variant	-	NC_000001.11:g.222994890C>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg302Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222994900G>C	NCI-TCGA
DISP1	Q96F81	p.Val304Ala	COSM1339100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222994906T>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Thr306Ser	rs955815340	missense variant	-	NC_000001.11:g.222994912C>G	TOPMed,gnomAD
DISP1	Q96F81	p.Ser307Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.222994915C>T	NCI-TCGA
DISP1	Q96F81	p.Leu313Phe	rs755178594	missense variant	-	NC_000001.11:g.222994934A>T	ExAC,gnomAD
DISP1	Q96F81	p.Pro317Thr	rs758500459	missense variant	-	NC_000001.11:g.222994944C>A	ExAC,gnomAD
DISP1	Q96F81	p.Pro317Ser	rs758500459	missense variant	-	NC_000001.11:g.222994944C>T	ExAC,gnomAD
DISP1	Q96F81	p.Met322Val	rs777517958	missense variant	-	NC_000001.11:g.222994959A>G	ExAC,gnomAD
DISP1	Q96F81	p.Cys323Gly	rs1175183017	missense variant	-	NC_000001.11:g.222994962T>G	gnomAD
DISP1	Q96F81	p.Asn324His	rs540049936	missense variant	-	NC_000001.11:g.222994965A>C	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn324Asp	rs540049936	missense variant	-	NC_000001.11:g.222994965A>G	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val325Leu	COSM679441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222994968G>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Asp326Gly	rs1458347268	missense variant	-	NC_000001.11:g.222994972A>G	gnomAD
DISP1	Q96F81	p.Asp326Asn	rs1269272967	missense variant	-	NC_000001.11:g.222994971G>A	TOPMed
DISP1	Q96F81	p.Gln335Pro	rs1371266753	missense variant	-	NC_000001.11:g.223002401A>C	TOPMed
DISP1	Q96F81	p.Gln335His	rs1320817660	missense variant	-	NC_000001.11:g.223002402G>C	gnomAD
DISP1	Q96F81	p.Gly337Cys	rs759932402	missense variant	-	NC_000001.11:g.223002406G>T	ExAC,gnomAD
DISP1	Q96F81	p.Gly337Asp	rs765403381	missense variant	-	NC_000001.11:g.223002407G>A	ExAC,gnomAD
DISP1	Q96F81	p.Leu339Phe	rs149888817	missense variant	-	NC_000001.11:g.223002412C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gln341Arg	rs748593109	missense variant	-	NC_000001.11:g.223002419A>G	TOPMed
DISP1	Q96F81	p.Thr344Ser	rs762959270	missense variant	-	NC_000001.11:g.223002428C>G	ExAC,gnomAD
DISP1	Q96F81	p.Ala345Thr	rs1397576166	missense variant	-	NC_000001.11:g.223002430G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Pro350Ser	rs751654884	missense variant	-	NC_000001.11:g.223002445C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ser351Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002449G>T	NCI-TCGA
DISP1	Q96F81	p.Trp352Arg	rs1221422074	missense variant	-	NC_000001.11:g.223002451T>A	gnomAD
DISP1	Q96F81	p.Gly355Ala	rs1469550559	missense variant	-	NC_000001.11:g.223002461G>C	TOPMed
DISP1	Q96F81	p.Asn356Ser	rs1204713115	missense variant	-	NC_000001.11:g.223002464A>G	gnomAD
DISP1	Q96F81	p.Tyr357Cys	rs756004316	missense variant	-	NC_000001.11:g.223002467A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile358Met	rs770022569	missense variant	-	NC_000001.11:g.223002471C>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile358Val	rs779804618	missense variant	-	NC_000001.11:g.223002469A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala359Asp	rs771437708	missense variant	-	NC_000001.11:g.223002473C>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala359Thr	rs747659889	missense variant	-	NC_000001.11:g.223002472G>A	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Ala359Thr	rs747659889	missense variant	-	NC_000001.11:g.223002472G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala359Val	rs771437708	missense variant	-	NC_000001.11:g.223002473C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile360Val	rs777035784	missense variant	-	NC_000001.11:g.223002475A>G	ExAC,gnomAD
DISP1	Q96F81	p.Leu361Val	rs144807113	missense variant	-	NC_000001.11:g.223002478C>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn362Lys	rs1354070393	missense variant	-	NC_000001.11:g.223002483C>G	gnomAD
DISP1	Q96F81	p.Asn362Tyr	rs1268763720	missense variant	-	NC_000001.11:g.223002481A>T	TOPMed
DISP1	Q96F81	p.Asn362Lys	rs1354070393	missense variant	-	NC_000001.11:g.223002483C>A	gnomAD
DISP1	Q96F81	p.Asn363Asp	RCV000223857	missense variant	-	NC_000001.11:g.223002484A>G	ClinVar
DISP1	Q96F81	p.Asn363Asp	rs876661336	missense variant	-	NC_000001.11:g.223002484A>G	-
DISP1	Q96F81	p.Arg364Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002488G>T	NCI-TCGA
DISP1	Q96F81	p.Ser365Leu	rs148999147	missense variant	-	NC_000001.11:g.223002491C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser365Trp	rs148999147	missense variant	-	NC_000001.11:g.223002491C>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser366Phe	rs1383483613	missense variant	-	NC_000001.11:g.223002494C>T	gnomAD
DISP1	Q96F81	p.Cys367Tyr	rs374091854	missense variant	-	NC_000001.11:g.223002497G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Cys367Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002496T>C	NCI-TCGA
DISP1	Q96F81	p.Ile370Met	rs111547845	missense variant	-	NC_000001.11:g.223002507A>G	gnomAD
DISP1	Q96F81	p.Ile370Thr	rs1312667624	missense variant	-	NC_000001.11:g.223002506T>C	gnomAD
DISP1	Q96F81	p.Arg373Ter	rs377667175	stop gained	-	NC_000001.11:g.223002514C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg373Gln	rs767452749	missense variant	-	NC_000001.11:g.223002515G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg373Gly	rs377667175	missense variant	-	NC_000001.11:g.223002514C>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val375Ile	rs755916120	missense variant	-	NC_000001.11:g.223002520G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val375Ile	rs755916120	missense variant	-	NC_000001.11:g.223002520G>A	NCI-TCGA
DISP1	Q96F81	p.His377Leu	rs1452239200	missense variant	-	NC_000001.11:g.223002527A>T	TOPMed
DISP1	Q96F81	p.His377Arg	rs1452239200	missense variant	-	NC_000001.11:g.223002527A>G	TOPMed
DISP1	Q96F81	p.His377Tyr	rs780000783	missense variant	-	NC_000001.11:g.223002526C>T	ExAC,gnomAD
DISP1	Q96F81	p.Lys380Arg	rs754635457	missense variant	-	NC_000001.11:g.223002536A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg383Leu	rs567212527	missense variant	-	NC_000001.11:g.223002545G>T	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg383Trp	rs371163462	missense variant	-	NC_000001.11:g.223002544C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg383Gln	rs567212527	missense variant	-	NC_000001.11:g.223002545G>A	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr384Ala	rs1168762958	missense variant	-	NC_000001.11:g.223002547A>G	gnomAD
DISP1	Q96F81	p.Cys385Tyr	rs146869710	missense variant	-	NC_000001.11:g.223002551G>A	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Lys387Thr	rs770349473	missense variant	-	NC_000001.11:g.223002557A>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gln390Arg	rs1206623123	missense variant	-	NC_000001.11:g.223002566A>G	TOPMed
DISP1	Q96F81	p.Thr393Asn	rs140829703	missense variant	-	NC_000001.11:g.223002575C>A	1000Genomes,ESP,ExAC,gnomAD
DISP1	Q96F81	p.Thr393Pro	rs749704141	missense variant	-	NC_000001.11:g.223002574A>C	ExAC,gnomAD
DISP1	Q96F81	p.Thr393Ile	rs140829703	missense variant	-	NC_000001.11:g.223002575C>T	1000Genomes,ESP,ExAC,gnomAD
DISP1	Q96F81	p.Gly395Glu	rs978886358	missense variant	-	NC_000001.11:g.223002581G>A	TOPMed
DISP1	Q96F81	p.Asp397Glu	rs1220549927	missense variant	-	NC_000001.11:g.223002588C>G	gnomAD
DISP1	Q96F81	p.Cys398Phe	rs1263234971	missense variant	-	NC_000001.11:g.223002590G>T	gnomAD
DISP1	Q96F81	p.Cys398Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002590G>C	NCI-TCGA
DISP1	Q96F81	p.Asp400Asn	rs538321379	missense variant	-	NC_000001.11:g.223002595G>A	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala403Thr	rs773217795	missense variant	-	NC_000001.11:g.223002604G>A	ExAC,gnomAD
DISP1	Q96F81	p.Ala403Val	rs760687407	missense variant	-	NC_000001.11:g.223002605C>T	ExAC,gnomAD
DISP1	Q96F81	p.Lys406Arg	rs1289952456	missense variant	-	NC_000001.11:g.223002614A>G	TOPMed
DISP1	Q96F81	p.Asp407Glu	rs766466751	missense variant	-	NC_000001.11:g.223002618C>A	ExAC,gnomAD
DISP1	Q96F81	p.Gln408Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002619C>A	NCI-TCGA
DISP1	Q96F81	p.Leu409Pro	rs754759315	missense variant	-	NC_000001.11:g.223002623T>C	ExAC,gnomAD
DISP1	Q96F81	p.Leu409Phe	rs753652728	missense variant	-	NC_000001.11:g.223002622C>T	ExAC,gnomAD
DISP1	Q96F81	p.Lys410Arg	rs143819396	missense variant	-	NC_000001.11:g.223002626A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn413Ser	rs757853636	missense variant	-	NC_000001.11:g.223002635A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn413Asp	rs752301395	missense variant	-	NC_000001.11:g.223002634A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val414Met	rs1185667588	missense variant	-	NC_000001.11:g.223002637G>A	gnomAD
DISP1	Q96F81	p.Pro415Ser	rs777257995	missense variant	-	NC_000001.11:g.223002640C>T	ExAC,gnomAD
DISP1	Q96F81	p.Pro415Leu	rs746577969	missense variant	-	NC_000001.11:g.223002641C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg416Cys	rs767054825	missense variant	-	NC_000001.11:g.223002643C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg416His	rs749629171	missense variant	-	NC_000001.11:g.223002644G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys417Arg	rs1366857566	missense variant	-	NC_000001.11:g.223002647A>G	TOPMed
DISP1	Q96F81	p.Thr419Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002652A>C	NCI-TCGA
DISP1	Q96F81	p.Lys420Arg	rs1423630653	missense variant	-	NC_000001.11:g.223002656A>G	TOPMed
DISP1	Q96F81	p.Lys420Glu	rs1368159731	missense variant	-	NC_000001.11:g.223002655A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Tyr421Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002659A>G	NCI-TCGA
DISP1	Q96F81	p.Asn422Asp	rs1283522491	missense variant	-	NC_000001.11:g.223002661A>G	gnomAD
DISP1	Q96F81	p.Asn422Ser	rs768929196	missense variant	-	NC_000001.11:g.223002662A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val424Ala	rs774576194	missense variant	-	NC_000001.11:g.223002668T>C	ExAC,gnomAD
DISP1	Q96F81	p.Gln426His	rs575391513	missense variant	-	NC_000001.11:g.223002675G>C	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile427Thr	rs1206176433	missense variant	-	NC_000001.11:g.223002677T>C	gnomAD
DISP1	Q96F81	p.Leu428Phe	rs1284008829	missense variant	-	NC_000001.11:g.223002679C>T	gnomAD
DISP1	Q96F81	p.Leu428Val	rs1284008829	missense variant	-	NC_000001.11:g.223002679C>G	gnomAD
DISP1	Q96F81	p.Tyr430Phe	rs1225070269	missense variant	-	NC_000001.11:g.223002686A>T	gnomAD
DISP1	Q96F81	p.Tyr430ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223002667_223002668insTGTACCAGATCCTCCA	NCI-TCGA
DISP1	Q96F81	p.Leu431Ser	rs1454626478	missense variant	-	NC_000001.11:g.223002689T>C	gnomAD
DISP1	Q96F81	p.Lys434Glu	rs1480176219	missense variant	-	NC_000001.11:g.223002697A>G	gnomAD
DISP1	Q96F81	p.Asp435Gly	rs760875536	missense variant	-	NC_000001.11:g.223002701A>G	ExAC,gnomAD
DISP1	Q96F81	p.Phe436Leu	COSM1339101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223002703T>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Pro439Thr	rs1200058031	missense variant	-	NC_000001.11:g.223002712C>A	TOPMed
DISP1	Q96F81	p.Lys440Glu	rs776731383	missense variant	-	NC_000001.11:g.223002715A>G	ExAC,gnomAD
DISP1	Q96F81	p.Thr441Met	RCV000757158	missense variant	-	NC_000001.11:g.223002719C>T	ClinVar
DISP1	Q96F81	p.Thr441Met	rs114523965	missense variant	-	NC_000001.11:g.223002719C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Thr441Met	rs114523965	missense variant	-	NC_000001.11:g.223002719C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala442Gly	rs1426302720	missense variant	-	NC_000001.11:g.223002722C>G	gnomAD
DISP1	Q96F81	p.Ala442Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002721G>A	NCI-TCGA
DISP1	Q96F81	p.Asp443Gly	rs1303421718	missense variant	-	NC_000001.11:g.223002725A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Tyr444Ser	rs757971360	missense variant	-	NC_000001.11:g.223002728A>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr444Ter	rs374481235	stop gained	-	NC_000001.11:g.223002729T>G	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Tyr444Asp	rs138859731	missense variant	-	NC_000001.11:g.223002727T>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr444Phe	rs757971360	missense variant	-	NC_000001.11:g.223002728A>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr444Cys	rs757971360	missense variant	-	NC_000001.11:g.223002728A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr446Met	rs190037827	missense variant	-	NC_000001.11:g.223002734C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro447Ser	rs1314051578	missense variant	-	NC_000001.11:g.223002736C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Tyr451His	rs1279471995	missense variant	-	NC_000001.11:g.223002748T>C	gnomAD
DISP1	Q96F81	p.Met453Ile	rs143019748	missense variant	-	NC_000001.11:g.223002756G>A	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Met453Thr	rs1344116927	missense variant	-	NC_000001.11:g.223002755T>C	TOPMed
DISP1	Q96F81	p.Gly461Arg	rs1355486325	missense variant	-	NC_000001.11:g.223002778G>A	gnomAD
DISP1	Q96F81	p.Glu462Asp	rs1490255117	missense variant	-	NC_000001.11:g.223002783G>T	gnomAD
DISP1	Q96F81	p.Ser463Asn	rs1208230811	missense variant	-	NC_000001.11:g.223002785G>A	gnomAD
DISP1	Q96F81	p.Met464Thr	rs1300780896	missense variant	-	NC_000001.11:g.223002788T>C	TOPMed
DISP1	Q96F81	p.Ile467Thr	rs755303223	missense variant	-	NC_000001.11:g.223002797T>C	ExAC,gnomAD
DISP1	Q96F81	p.Leu469Ser	rs200592414	missense variant	-	NC_000001.11:g.223002803T>C	TOPMed,gnomAD
DISP1	Q96F81	p.Asp470Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002805G>A	NCI-TCGA
DISP1	Q96F81	p.Trp475Cys	rs1361972840	missense variant	-	NC_000001.11:g.223002822G>T	gnomAD
DISP1	Q96F81	p.Trp475Arg	rs1169269704	missense variant	-	NC_000001.11:g.223002820T>C	TOPMed
DISP1	Q96F81	p.Ser477Phe	rs779142191	missense variant	-	NC_000001.11:g.223002827C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ser478Phe	rs138673928	missense variant	-	NC_000001.11:g.223002830C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly480Asp	rs977342304	missense variant	-	NC_000001.11:g.223002836G>A	TOPMed
DISP1	Q96F81	p.Gly480Ser	rs1299518659	missense variant	-	NC_000001.11:g.223002835G>A	NCI-TCGA
DISP1	Q96F81	p.Gly480Ser	rs1299518659	missense variant	-	NC_000001.11:g.223002835G>A	gnomAD
DISP1	Q96F81	p.Val481Met	rs371983177	missense variant	-	NC_000001.11:g.223002838G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val481Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002838G>T	NCI-TCGA
DISP1	Q96F81	p.Thr483Ala	rs771148074	missense variant	-	NC_000001.11:g.223002844A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile484Val	rs776561441	missense variant	-	NC_000001.11:g.223002847A>G	ExAC,gnomAD
DISP1	Q96F81	p.Thr485Asn	rs759386089	missense variant	-	NC_000001.11:g.223002851C>A	ExAC,gnomAD
DISP1	Q96F81	p.Thr485Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002851C>T	NCI-TCGA
DISP1	Q96F81	p.Gly486Arg	rs775124500	missense variant	-	NC_000001.11:g.223002853G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Phe489Ile	rs762778909	missense variant	-	NC_000001.11:g.223002862T>A	ExAC,gnomAD
DISP1	Q96F81	p.Gly490Ser	rs1253281262	missense variant	-	NC_000001.11:g.223002865G>A	gnomAD
DISP1	Q96F81	p.Ile491Thr	rs1195332062	missense variant	-	NC_000001.11:g.223002869T>C	gnomAD
DISP1	Q96F81	p.His493Tyr	rs1225690651	missense variant	-	NC_000001.11:g.223002874C>T	TOPMed
DISP1	Q96F81	p.Gln497Arg	rs1242366606	missense variant	-	NC_000001.11:g.223002887A>G	gnomAD
DISP1	Q96F81	p.Leu500Val	rs1281010740	missense variant	-	NC_000001.11:g.223002895C>G	gnomAD
DISP1	Q96F81	p.Leu500Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002895C>T	NCI-TCGA
DISP1	Q96F81	p.Thr504Asn	rs1172145871	missense variant	-	NC_000001.11:g.223002908C>A	gnomAD
DISP1	Q96F81	p.Thr504Ala	rs761256454	missense variant	-	NC_000001.11:g.223002907A>G	ExAC,gnomAD
DISP1	Q96F81	p.Tyr506Cys	rs750019844	missense variant	-	NC_000001.11:g.223002914A>G	ExAC,gnomAD
DISP1	Q96F81	p.Tyr506His	rs539816731	missense variant	-	NC_000001.11:g.223002913T>C	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Pro507Leu	rs561363825	missense variant	-	NC_000001.11:g.223002917C>T	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro507Ser	rs1165677386	missense variant	-	NC_000001.11:g.223002916C>T	gnomAD
DISP1	Q96F81	p.Ala508Ser	rs779526244	missense variant	-	NC_000001.11:g.223002919G>T	ExAC,gnomAD
DISP1	Q96F81	p.Ile509Leu	rs752961647	missense variant	-	NC_000001.11:g.223002922A>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile509Val	rs752961647	missense variant	-	NC_000001.11:g.223002922A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile511Phe	rs758853373	missense variant	-	NC_000001.11:g.223002928A>T	ExAC,gnomAD
DISP1	Q96F81	p.Ile511Val	rs758853373	missense variant	-	NC_000001.11:g.223002928A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ile511Met	rs1004724515	missense variant	-	NC_000001.11:g.223002930T>G	gnomAD
DISP1	Q96F81	p.Val512Met	rs778079837	missense variant	-	NC_000001.11:g.223002931G>A	ExAC,gnomAD
DISP1	Q96F81	p.Val512Ala	rs747235155	missense variant	-	NC_000001.11:g.223002932T>C	ExAC,gnomAD
DISP1	Q96F81	p.Leu515Phe	rs1204288878	missense variant	-	NC_000001.11:g.223002940C>T	gnomAD
DISP1	Q96F81	p.Val517Ile	rs746007047	missense variant	-	NC_000001.11:g.223002946G>A	ExAC,gnomAD
DISP1	Q96F81	p.Val517Ala	rs960755202	missense variant	-	NC_000001.11:g.223002947T>C	TOPMed
DISP1	Q96F81	p.Val517Gly	rs960755202	missense variant	-	NC_000001.11:g.223002947T>G	TOPMed
DISP1	Q96F81	p.Met518Ile	rs1427134868	missense variant	-	NC_000001.11:g.223002951G>T	TOPMed
DISP1	Q96F81	p.Met518Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223002950T>C	NCI-TCGA
DISP1	Q96F81	p.Met518Val	rs1482174166	missense variant	-	NC_000001.11:g.223002949A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Cys519Tyr	rs769585849	missense variant	-	NC_000001.11:g.223002953G>A	ExAC,gnomAD
DISP1	Q96F81	p.Val520LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223002950_223002951TG>-	NCI-TCGA
DISP1	Q96F81	p.Met525Val	rs1262112954	missense variant	-	NC_000001.11:g.223002970A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Met525Thr	rs775531279	missense variant	-	NC_000001.11:g.223002971T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile527Leu	rs898699853	missense variant	-	NC_000001.11:g.223002976A>C	TOPMed,gnomAD
DISP1	Q96F81	p.Met530Thr	rs1469858788	missense variant	-	NC_000001.11:g.223002986T>C	gnomAD
DISP1	Q96F81	p.Met530Ile	rs1179685200	missense variant	-	NC_000001.11:g.223002987G>A	TOPMed
DISP1	Q96F81	p.Met532Val	rs1177850554	missense variant	-	NC_000001.11:g.223002991A>G	gnomAD
DISP1	Q96F81	p.Met532Leu	rs1177850554	missense variant	-	NC_000001.11:g.223002991A>T	gnomAD
DISP1	Q96F81	p.Ala534Glu	rs970333368	missense variant	-	NC_000001.11:g.223002998C>A	gnomAD
DISP1	Q96F81	p.Ala534Ser	rs768453725	missense variant	-	NC_000001.11:g.223002997G>T	ExAC,gnomAD
DISP1	Q96F81	p.Ser537Asn	rs773930993	missense variant	-	NC_000001.11:g.223003007G>A	ExAC,gnomAD
DISP1	Q96F81	p.Ser537Thr	rs773930993	missense variant	-	NC_000001.11:g.223003007G>C	ExAC,gnomAD
DISP1	Q96F81	p.Ser538Tyr	COSM1203665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003010C>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Leu539Val	rs761454436	missense variant	-	NC_000001.11:g.223003012T>G	ExAC,gnomAD
DISP1	Q96F81	p.Ile540Asn	rs1486678692	missense variant	-	NC_000001.11:g.223003016T>A	gnomAD
DISP1	Q96F81	p.Val541Gly	rs1418749665	missense variant	-	NC_000001.11:g.223003019T>G	TOPMed
DISP1	Q96F81	p.Ser542Ala	COSM3369552	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003021T>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Leu545Phe	rs749881753	missense variant	-	NC_000001.11:g.223003030C>T	ExAC,gnomAD
DISP1	Q96F81	p.Arg547His	rs765609888	missense variant	-	NC_000001.11:g.223003037G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg547His	rs765609888	missense variant	-	NC_000001.11:g.223003037G>A	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Arg547Cys	rs535777793	missense variant	-	NC_000001.11:g.223003036C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg547Cys	rs535777793	missense variant	-	NC_000001.11:g.223003036C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Val549Ile	rs1282674754	missense variant	-	NC_000001.11:g.223003042G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Phe552Leu	rs753258388	missense variant	-	NC_000001.11:g.223003053C>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Phe552Leu	rs753258388	missense variant	-	NC_000001.11:g.223003053C>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu553Lys	rs760562145	missense variant	-	NC_000001.11:g.223003054G>A	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu553Lys	rs760562145	missense variant	-	NC_000001.11:g.223003054G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Glu553Lys	RCV000223691	missense variant	-	NC_000001.11:g.223003054G>A	ClinVar
DISP1	Q96F81	p.Glu553Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.223003054G>T	NCI-TCGA
DISP1	Q96F81	p.Phe555Val	rs1485421031	missense variant	-	NC_000001.11:g.223003060T>G	gnomAD
DISP1	Q96F81	p.Pro556Ser	COSM3484030	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003063C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Met558Val	rs182626887	missense variant	-	NC_000001.11:g.223003069A>G	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Leu560Phe	rs944817241	missense variant	-	NC_000001.11:g.223003075C>T	TOPMed
DISP1	Q96F81	p.Leu563Phe	rs1198104112	missense variant	-	NC_000001.11:g.223003084C>T	gnomAD
DISP1	Q96F81	p.Ile565Thr	rs1419834468	missense variant	-	NC_000001.11:g.223003091T>C	gnomAD
DISP1	Q96F81	p.Val567Ile	rs1403634167	missense variant	-	NC_000001.11:g.223003096G>A	TOPMed
DISP1	Q96F81	p.Gly568Arg	rs781516051	missense variant	-	NC_000001.11:g.223003099G>A	ExAC,gnomAD
DISP1	Q96F81	p.Ile569Val	rs756242515	missense variant	-	NC_000001.11:g.223003102A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ile569Thr	rs779799303	missense variant	-	NC_000001.11:g.223003103T>C	ExAC,gnomAD
DISP1	Q96F81	p.Ile569Met	rs1419457586	missense variant	-	NC_000001.11:g.223003104T>G	gnomAD
DISP1	Q96F81	p.Asp573Val	rs1184256587	missense variant	-	NC_000001.11:g.223003115A>T	gnomAD
DISP1	Q96F81	p.Asp573Asn	COSM6124936	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003114G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ala574Val	rs1296622359	missense variant	-	NC_000001.11:g.223003118C>T	gnomAD
DISP1	Q96F81	p.Phe575Leu	rs749228383	missense variant	-	NC_000001.11:g.223003120T>C	ExAC,gnomAD
DISP1	Q96F81	p.Leu577Pro	rs1401236904	missense variant	-	NC_000001.11:g.223003127T>C	TOPMed
DISP1	Q96F81	p.Cys578Tyr	rs1365500259	missense variant	-	NC_000001.11:g.223003130G>A	gnomAD
DISP1	Q96F81	p.Val580Phe	rs1225464925	missense variant	-	NC_000001.11:g.223003135G>T	gnomAD
DISP1	Q96F81	p.Trp581Ter	COSM280397	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.223003140G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Asn582Tyr	rs1307604521	missense variant	-	NC_000001.11:g.223003141A>T	gnomAD
DISP1	Q96F81	p.Thr584Ile	rs1316175685	missense variant	-	NC_000001.11:g.223003148C>T	gnomAD
DISP1	Q96F81	p.Phe586Leu	rs774122688	missense variant	-	NC_000001.11:g.223003155T>G	ExAC,gnomAD
DISP1	Q96F81	p.Asp587Glu	rs1377839577	missense variant	-	NC_000001.11:g.223003158T>A	gnomAD
DISP1	Q96F81	p.Asp587His	rs1490415277	missense variant	-	NC_000001.11:g.223003156G>C	gnomAD
DISP1	Q96F81	p.Lys588Glu	rs1221190318	missense variant	-	NC_000001.11:g.223003159A>G	gnomAD
DISP1	Q96F81	p.Pro589His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223003163C>A	NCI-TCGA
DISP1	Q96F81	p.Glu592Lys	rs140364622	missense variant	-	NC_000001.11:g.223003171G>A	1000Genomes,ESP,TOPMed,gnomAD
DISP1	Q96F81	p.Thr593Ala	rs772936765	missense variant	-	NC_000001.11:g.223003174A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser594Leu	rs368871472	missense variant	-	NC_000001.11:g.223003178C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Glu595Asp	rs765914428	missense variant	-	NC_000001.11:g.223003182A>C	ExAC,gnomAD
DISP1	Q96F81	p.Thr596Ile	rs1387410122	missense variant	-	NC_000001.11:g.223003184C>T	gnomAD
DISP1	Q96F81	p.Val597Leu	rs1425543683	missense variant	-	NC_000001.11:g.223003186G>C	TOPMed,gnomAD
DISP1	Q96F81	p.Val597Ile	rs1425543683	missense variant	-	NC_000001.11:g.223003186G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Val597Leu	rs1425543683	missense variant	-	NC_000001.11:g.223003186G>T	TOPMed,gnomAD
DISP1	Q96F81	p.Ile599Leu	rs977225055	missense variant	-	NC_000001.11:g.223003192A>C	TOPMed
DISP1	Q96F81	p.Thr600Ser	rs776343765	missense variant	-	NC_000001.11:g.223003195A>T	ExAC,gnomAD
DISP1	Q96F81	p.Leu601Phe	rs147916909	missense variant	-	NC_000001.11:g.223003200G>C	ESP,TOPMed,gnomAD
DISP1	Q96F81	p.Gln602Lys	rs555036894	missense variant	-	NC_000001.11:g.223003201C>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gln602Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.223003201C>T	NCI-TCGA
DISP1	Q96F81	p.Ala604Thr	rs375851211	missense variant	-	NC_000001.11:g.223003207G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala604Ser	rs375851211	missense variant	-	NC_000001.11:g.223003207G>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met608Val	rs781742238	missense variant	-	NC_000001.11:g.223003219A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Phe609Ile	rs941686436	missense variant	-	NC_000001.11:g.223003222T>A	TOPMed
DISP1	Q96F81	p.Phe609Leu	COSM1960127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003222T>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Phe609Cys	rs748634730	missense variant	-	NC_000001.11:g.223003223T>G	gnomAD
DISP1	Q96F81	p.Val610Leu	rs1304068574	missense variant	-	NC_000001.11:g.223003225G>C	gnomAD
DISP1	Q96F81	p.Ser612Arg	rs533562350	missense variant	-	NC_000001.11:g.223003231A>C	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr615Ala	rs1231766318	missense variant	-	NC_000001.11:g.223003240A>G	gnomAD
DISP1	Q96F81	p.Thr615Ala	RCV000756014	missense variant	-	NC_000001.11:g.223003240A>G	ClinVar
DISP1	Q96F81	p.Ala617Val	rs749431977	missense variant	-	NC_000001.11:g.223003247C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ala617Val	rs749431977	missense variant	-	NC_000001.11:g.223003247C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Tyr620His	rs770232963	missense variant	-	NC_000001.11:g.223003255T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn626Ser	rs1445610831	missense variant	-	NC_000001.11:g.223003274A>G	gnomAD
DISP1	Q96F81	p.Ile627Val	rs1366237099	missense variant	-	NC_000001.11:g.223003276A>G	TOPMed
DISP1	Q96F81	p.Thr628Arg	rs778865083	missense variant	-	NC_000001.11:g.223003280C>G	ExAC,gnomAD
DISP1	Q96F81	p.Thr628Ile	rs778865083	missense variant	-	NC_000001.11:g.223003280C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ala629Thr	rs973061591	missense variant	-	NC_000001.11:g.223003282G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Ala629Thr	rs973061591	missense variant	-	NC_000001.11:g.223003282G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Arg631Leu	rs368949985	missense variant	-	NC_000001.11:g.223003289G>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg631Ter	rs747887655	stop gained	-	NC_000001.11:g.223003288C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Arg631Gln	rs368949985	missense variant	-	NC_000001.11:g.223003289G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg631Ter	rs747887655	stop gained	-	NC_000001.11:g.223003288C>T	ExAC,gnomAD
DISP1	Q96F81	p.Arg631Gln	rs368949985	missense variant	-	NC_000001.11:g.223003289G>A	NCI-TCGA
DISP1	Q96F81	p.Cys632Phe	rs371359855	missense variant	-	NC_000001.11:g.223003292G>T	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Gly634Arg	rs770547973	missense variant	-	NC_000001.11:g.223003297G>A	ExAC,gnomAD
DISP1	Q96F81	p.Val635Ile	rs139362609	missense variant	-	NC_000001.11:g.223003300G>A	ESP,TOPMed
DISP1	Q96F81	p.Val635Phe	rs139362609	missense variant	-	NC_000001.11:g.223003300G>T	ESP,TOPMed
DISP1	Q96F81	p.Ala637Val	rs148231227	missense variant	-	NC_000001.11:g.223003307C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Ala637Val	rs148231227	missense variant	-	NC_000001.11:g.223003307C>T	1000Genomes,ExAC
DISP1	Q96F81	p.Gly638Arg	rs762028035	missense variant	-	NC_000001.11:g.223003309G>C	ExAC,gnomAD
DISP1	Q96F81	p.Thr639Ile	rs375928938	missense variant	-	NC_000001.11:g.223003313C>T	ESP,TOPMed
DISP1	Q96F81	p.Ile641Val	rs150311676	missense variant	-	NC_000001.11:g.223003318A>G	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Leu642Ser	rs753886707	missense variant	-	NC_000001.11:g.223003322T>C	ExAC,gnomAD
DISP1	Q96F81	p.Val646Ile	rs1265521752	missense variant	-	NC_000001.11:g.223003333G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Met648Ile	rs755084650	missense variant	-	NC_000001.11:g.223003341G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr650Ala	COSM6061742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003345A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Thr650Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223003346C>T	NCI-TCGA
DISP1	Q96F81	p.Trp651Cys	rs899864367	missense variant	-	NC_000001.11:g.223003350G>T	TOPMed
DISP1	Q96F81	p.Trp651Gly	rs758331125	missense variant	-	NC_000001.11:g.223003348T>G	ExAC,gnomAD
DISP1	Q96F81	p.Trp651Arg	rs758331125	missense variant	-	NC_000001.11:g.223003348T>C	ExAC,gnomAD
DISP1	Q96F81	p.Trp651Leu	rs148124771	missense variant	-	NC_000001.11:g.223003349G>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Leu652Phe	rs746828233	missense variant	-	NC_000001.11:g.223003351C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala654Glu	rs781021329	missense variant	-	NC_000001.11:g.223003358C>A	ExAC,gnomAD
DISP1	Q96F81	p.Val655Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223003360G>T	NCI-TCGA
DISP1	Q96F81	p.His659Tyr	rs975190369	missense variant	-	NC_000001.11:g.223003372C>T	gnomAD
DISP1	Q96F81	p.His659Pro	rs769444873	missense variant	-	NC_000001.11:g.223003373A>C	ExAC,gnomAD
DISP1	Q96F81	p.His659Arg	rs769444873	missense variant	-	NC_000001.11:g.223003373A>G	ExAC,gnomAD
DISP1	Q96F81	p.His659Asn	rs975190369	missense variant	-	NC_000001.11:g.223003372C>A	gnomAD
DISP1	Q96F81	p.Glu660Lys	rs1431100967	missense variant	-	NC_000001.11:g.223003375G>A	gnomAD
DISP1	Q96F81	p.Arg661Trp	rs369217520	missense variant	-	NC_000001.11:g.223003378C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg661Gln	rs373851972	missense variant	-	NC_000001.11:g.223003379G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg661Trp	rs369217520	missense variant	-	NC_000001.11:g.223003378C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Phe667Leu	rs1324911688	missense variant	-	NC_000001.11:g.223003396T>C	gnomAD
DISP1	Q96F81	p.Thr668Ser	COSM679439	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003399A>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Thr668Ala	rs1200328068	missense variant	-	NC_000001.11:g.223003399A>G	gnomAD
DISP1	Q96F81	p.Thr668Ile	rs772513509	missense variant	-	NC_000001.11:g.223003400C>T	ExAC
DISP1	Q96F81	p.Cys669Phe	rs1277029757	missense variant	-	NC_000001.11:g.223003403G>T	gnomAD
DISP1	Q96F81	p.Gln674His	rs138078434	missense variant	-	NC_000001.11:g.223003419G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gln675Lys	rs754069672	missense variant	-	NC_000001.11:g.223003420C>A	ExAC,gnomAD
DISP1	Q96F81	p.Ile677Val	rs539197788	missense variant	-	NC_000001.11:g.223003426A>G	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Tyr678His	rs752773807	missense variant	-	NC_000001.11:g.223003429T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr678Asp	rs752773807	missense variant	-	NC_000001.11:g.223003429T>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys681Glu	rs1200969619	missense variant	-	NC_000001.11:g.223003438A>G	TOPMed
DISP1	Q96F81	p.Lys681Arg	rs751327025	missense variant	-	NC_000001.11:g.223003439A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser682Thr	rs376978669	missense variant	-	NC_000001.11:g.223003442G>C	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Ser682Asn	rs376978669	missense variant	-	NC_000001.11:g.223003442G>A	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Cys683Arg	rs745521672	missense variant	-	NC_000001.11:g.223003444T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Trp684Arg	rs147132038	missense variant	-	NC_000001.11:g.223003447T>C	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Trp684Ter	rs1329938439	stop gained	-	NC_000001.11:g.223003449G>A	gnomAD
DISP1	Q96F81	p.Thr685Ile	rs779698268	missense variant	-	NC_000001.11:g.223003451C>T	ExAC,gnomAD
DISP1	Q96F81	p.Val686Ala	rs1353340610	missense variant	-	NC_000001.11:g.223003454T>C	gnomAD
DISP1	Q96F81	p.Val686Met	rs748802428	missense variant	-	NC_000001.11:g.223003453G>A	ExAC,gnomAD
DISP1	Q96F81	p.Val686Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223003454T>A	NCI-TCGA
DISP1	Q96F81	p.Ala687Val	rs1204737958	missense variant	-	NC_000001.11:g.223003457C>T	TOPMed
DISP1	Q96F81	p.Cys688Phe	rs772604564	missense variant	-	NC_000001.11:g.223003460G>T	ExAC,gnomAD
DISP1	Q96F81	p.Gln689Leu	rs773625592	missense variant	-	NC_000001.11:g.223003463A>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gln689Arg	rs773625592	missense variant	-	NC_000001.11:g.223003463A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gln689His	rs761054779	missense variant	-	NC_000001.11:g.223003464G>C	ExAC,gnomAD
DISP1	Q96F81	p.Lys690Arg	rs557556931	missense variant	-	NC_000001.11:g.223003466A>G	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Lys693Glu	rs1196737438	missense variant	-	NC_000001.11:g.223003474A>G	gnomAD
DISP1	Q96F81	p.Val694Leu	COSM1339103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003477G>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Leu695Arg	rs1365438703	missense variant	-	NC_000001.11:g.223003481T>G	gnomAD
DISP1	Q96F81	p.Leu695Phe	COSM904351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003480C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Leu695Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223003480C>G	NCI-TCGA
DISP1	Q96F81	p.Phe696Leu	rs1157851709	missense variant	-	NC_000001.11:g.223003483T>C	TOPMed,gnomAD
DISP1	Q96F81	p.Ile698Val	rs1426170438	missense variant	-	NC_000001.11:g.223003489A>G	gnomAD
DISP1	Q96F81	p.Ser702Thr	rs1397760930	missense variant	-	NC_000001.11:g.223003501T>A	gnomAD
DISP1	Q96F81	p.Arg703Leu	rs752790327	missense variant	-	NC_000001.11:g.223003505G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg703Gln	rs752790327	missense variant	-	NC_000001.11:g.223003505G>A	NCI-TCGA
DISP1	Q96F81	p.Arg703Gly	rs1163812623	missense variant	-	NC_000001.11:g.223003504C>G	gnomAD
DISP1	Q96F81	p.Arg703Gln	rs752790327	missense variant	-	NC_000001.11:g.223003505G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile704Ser	rs1384536703	missense variant	-	NC_000001.11:g.223003508T>G	gnomAD
DISP1	Q96F81	p.Phe705Ser	rs762973341	missense variant	-	NC_000001.11:g.223003511T>C	ExAC,gnomAD
DISP1	Q96F81	p.Glu707Lys	rs369580331	missense variant	-	NC_000001.11:g.223003516G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu707Lys	rs369580331	missense variant	-	NC_000001.11:g.223003516G>A	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Lys708Glu	rs757047497	missense variant	-	NC_000001.11:g.223003519A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val709TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223003517A>-	NCI-TCGA
DISP1	Q96F81	p.Pro711Ser	rs1248522530	missense variant	-	NC_000001.11:g.223003528C>T	gnomAD
DISP1	Q96F81	p.Cys712Ser	rs767417397	missense variant	-	NC_000001.11:g.223003531T>A	ExAC,gnomAD
DISP1	Q96F81	p.Cys712Tyr	rs1355786834	missense variant	-	NC_000001.11:g.223003532G>A	gnomAD
DISP1	Q96F81	p.Lys716Asn	rs1252699560	missense variant	-	NC_000001.11:g.223003545G>T	gnomAD
DISP1	Q96F81	p.Arg718His	rs201743091	missense variant	-	NC_000001.11:g.223003550G>A	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg718Cys	rs755807282	missense variant	-	NC_000001.11:g.223003549C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg718Cys	rs755807282	missense variant	-	NC_000001.11:g.223003549C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Tyr719Ser	rs1446205358	missense variant	-	NC_000001.11:g.223003553A>C	gnomAD
DISP1	Q96F81	p.Leu720Arg	rs754471361	missense variant	-	NC_000001.11:g.223003556T>G	ExAC,gnomAD
DISP1	Q96F81	p.Trp724Cys	rs376932856	missense variant	-	NC_000001.11:g.223003569G>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Trp724Leu	rs201705065	missense variant	-	NC_000001.11:g.223003568G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Trp724Cys	rs376932856	missense variant	-	NC_000001.11:g.223003569G>C	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Trp724Ser	rs201705065	missense variant	-	NC_000001.11:g.223003568G>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala727Val	rs1466661761	missense variant	-	NC_000001.11:g.223003577C>T	gnomAD
DISP1	Q96F81	p.Val730Ile	rs1375213139	missense variant	-	NC_000001.11:g.223003585G>A	gnomAD
DISP1	Q96F81	p.Gly731Asp	rs746271401	missense variant	-	NC_000001.11:g.223003589G>A	ExAC,gnomAD
DISP1	Q96F81	p.Tyr734Ter	rs763031170	stop gained	-	NC_000001.11:g.223003599C>A	ExAC,gnomAD
DISP1	Q96F81	p.Tyr734Ter	RCV000419225	nonsense	-	NC_000001.11:g.223003599C>A	ClinVar
DISP1	Q96F81	p.Ile735Thr	rs1253154864	missense variant	-	NC_000001.11:g.223003601T>C	gnomAD
DISP1	Q96F81	p.Ile735Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223003600A>G	NCI-TCGA
DISP1	Q96F81	p.Val736Ile	rs1318692402	missense variant	-	NC_000001.11:g.223003603G>A	gnomAD
DISP1	Q96F81	p.Val736Leu	rs1318692402	missense variant	-	NC_000001.11:g.223003603G>T	gnomAD
DISP1	Q96F81	p.Ile738Arg	rs1197987732	missense variant	-	NC_000001.11:g.223003610T>G	gnomAD
DISP1	Q96F81	p.Ile738Met	rs1256042911	missense variant	-	NC_000001.11:g.223003611A>G	gnomAD
DISP1	Q96F81	p.Asn739Asp	COSM904352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003612A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Asn739Ser	rs371601719	missense variant	-	NC_000001.11:g.223003613A>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys741Asn	rs1255144246	missense variant	-	NC_000001.11:g.223003620G>T	TOPMed,gnomAD
DISP1	Q96F81	p.Lys741Asn	rs1255144246	missense variant	-	NC_000001.11:g.223003620G>C	TOPMed,gnomAD
DISP1	Q96F81	p.Lys741Glu	rs1182254613	missense variant	-	NC_000001.11:g.223003618A>G	gnomAD
DISP1	Q96F81	p.Met742Val	rs1317582325	missense variant	-	NC_000001.11:g.223003621A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Lys743Gln	rs1197795322	missense variant	-	NC_000001.11:g.223003624A>C	TOPMed
DISP1	Q96F81	p.Ser746Leu	rs1045187099	missense variant	-	NC_000001.11:g.223003634C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Glu751Gln	rs767613451	missense variant	-	NC_000001.11:g.223003648G>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu751Lys	rs767613451	missense variant	-	NC_000001.11:g.223003648G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu751Lys	rs767613451	missense variant	-	NC_000001.11:g.223003648G>A	NCI-TCGA
DISP1	Q96F81	p.Gln753His	rs756008378	missense variant	-	NC_000001.11:g.223003656G>T	ExAC,gnomAD
DISP1	Q96F81	p.Arg756Trp	rs766010478	missense variant	-	NC_000001.11:g.223003663C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Arg756Gln	rs148437031	missense variant	-	NC_000001.11:g.223003664G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg756Pro	rs148437031	missense variant	-	NC_000001.11:g.223003664G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg756Trp	rs766010478	missense variant	-	NC_000001.11:g.223003663C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser757Ter	rs754723527	stop gained	-	NC_000001.11:g.223003667C>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser757Leu	rs754723527	missense variant	-	NC_000001.11:g.223003667C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser757Trp	COSM679437	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003667C>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser757Ter	rs754723527	stop gained	-	NC_000001.11:g.223003667C>A	NCI-TCGA
DISP1	Q96F81	p.Ser757Leu	rs754723527	missense variant	-	NC_000001.11:g.223003667C>T	NCI-TCGA
DISP1	Q96F81	p.Phe761Val	rs1335376662	missense variant	-	NC_000001.11:g.223003678T>G	TOPMed
DISP1	Q96F81	p.Glu762Gln	rs1064794816	missense variant	-	NC_000001.11:g.223003681G>C	-
DISP1	Q96F81	p.Glu762Gln	RCV000482296	missense variant	-	NC_000001.11:g.223003681G>C	ClinVar
DISP1	Q96F81	p.Arg763Cys	rs759714329	missense variant	-	NC_000001.11:g.223003684C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg763His	rs757727140	missense variant	-	NC_000001.11:g.223003685G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg763Cys	rs759714329	missense variant	-	NC_000001.11:g.223003684C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Asp765Val	rs746181825	missense variant	-	NC_000001.11:g.223003691A>T	ExAC,gnomAD
DISP1	Q96F81	p.Tyr768His	rs770065834	missense variant	-	NC_000001.11:g.223003699T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys769Glu	rs1378163776	missense variant	-	NC_000001.11:g.223003702A>G	TOPMed
DISP1	Q96F81	p.Lys769Arg	COSM4935119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003703A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Phe772Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223003712T>C	NCI-TCGA
DISP1	Q96F81	p.Met773Val	rs775713432	missense variant	-	NC_000001.11:g.223003714A>G	ExAC,gnomAD
DISP1	Q96F81	p.Met773Ile	rs372615313	missense variant	-	NC_000001.11:g.223003716G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Met773Ile	rs372615313	missense variant	-	NC_000001.11:g.223003716G>C	TOPMed,gnomAD
DISP1	Q96F81	p.Glu775Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.223003720G>T	NCI-TCGA
DISP1	Q96F81	p.Arg776His	rs1190910014	missense variant	-	NC_000001.11:g.223003724G>A	gnomAD
DISP1	Q96F81	p.Arg776Cys	rs1057137792	missense variant	-	NC_000001.11:g.223003723C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Val777Phe	rs1430720968	missense variant	-	NC_000001.11:g.223003726G>T	gnomAD
DISP1	Q96F81	p.Glu781Lys	rs545584717	missense variant	-	NC_000001.11:g.223003738G>A	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu781Lys	rs545584717	missense variant	-	NC_000001.11:g.223003738G>A	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu782Lys	rs767525747	missense variant	-	NC_000001.11:g.223003741G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Leu783Phe	rs1464718896	missense variant	-	NC_000001.11:g.223003744C>T	gnomAD
DISP1	Q96F81	p.Met785Leu	rs1361435298	missense variant	-	NC_000001.11:g.223003750A>T	TOPMed,gnomAD
DISP1	Q96F81	p.Met785Val	rs1361435298	missense variant	-	NC_000001.11:g.223003750A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Pro786Thr	rs773308344	missense variant	-	NC_000001.11:g.223003753C>A	ExAC,gnomAD
DISP1	Q96F81	p.Pro786Ser	rs773308344	missense variant	-	NC_000001.11:g.223003753C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ile787Val	rs760491197	missense variant	-	NC_000001.11:g.223003756A>G	ExAC,gnomAD
DISP1	Q96F81	p.Gly792Val	rs1219797730	missense variant	-	NC_000001.11:g.223003772G>T	gnomAD
DISP1	Q96F81	p.Val793Met	rs201522623	missense variant	-	NC_000001.11:g.223003774G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser794Pro	rs974949472	missense variant	-	NC_000001.11:g.223003777T>C	TOPMed,gnomAD
DISP1	Q96F81	p.Ser794Cys	rs143904366	missense variant	-	NC_000001.11:g.223003778C>G	ESP,TOPMed
DISP1	Q96F81	p.Pro795Leu	rs764977296	missense variant	-	NC_000001.11:g.223003781C>T	ExAC,gnomAD
DISP1	Q96F81	p.Glu796Lys	rs757925527	missense variant	-	NC_000001.11:g.223003783G>A	ExAC
DISP1	Q96F81	p.Asn798Ser	rs775603223	missense variant	-	NC_000001.11:g.223003790A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn798Asp	rs781619253	missense variant	-	NC_000001.11:g.223003789A>G	ExAC,gnomAD
DISP1	Q96F81	p.Gly799Arg	rs756711550	missense variant	-	NC_000001.11:g.223003792G>C	ExAC,gnomAD
DISP1	Q96F81	p.Asn800Ser	rs749711578	missense variant	-	NC_000001.11:g.223003796A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn803Ser	rs779312476	missense variant	-	NC_000001.11:g.223003805A>G	ExAC,gnomAD
DISP1	Q96F81	p.Lys805Arg	rs748193973	missense variant	-	NC_000001.11:g.223003811A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ser806Asn	rs1291133030	missense variant	-	NC_000001.11:g.223003814G>A	TOPMed
DISP1	Q96F81	p.Asp813His	rs768273418	missense variant	-	NC_000001.11:g.223003834G>C	NCI-TCGA
DISP1	Q96F81	p.Asp813Glu	rs147223870	missense variant	-	NC_000001.11:g.223003836T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp813Gly	rs773219773	missense variant	-	NC_000001.11:g.223003835A>G	ExAC,gnomAD
DISP1	Q96F81	p.Asp813His	rs768273418	missense variant	-	NC_000001.11:g.223003834G>C	-
DISP1	Q96F81	p.Ser814Gly	rs1424932016	missense variant	-	NC_000001.11:g.223003837A>G	TOPMed
DISP1	Q96F81	p.Phe816Val	rs770947437	missense variant	-	NC_000001.11:g.223003843T>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile818Phe	rs759403717	missense variant	-	NC_000001.11:g.223003849A>T	ExAC,gnomAD
DISP1	Q96F81	p.Ala819Asp	rs1064794602	missense variant	-	NC_000001.11:g.223003853C>A	gnomAD
DISP1	Q96F81	p.Ala819Pro	rs201957626	missense variant	-	NC_000001.11:g.223003852G>C	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala819Thr	rs201957626	missense variant	-	NC_000001.11:g.223003852G>A	NCI-TCGA
DISP1	Q96F81	p.Ala819Gly	rs1064794602	missense variant	-	NC_000001.11:g.223003853C>G	gnomAD
DISP1	Q96F81	p.Ala819Thr	rs201957626	missense variant	-	NC_000001.11:g.223003852G>A	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala819Asp	RCV000480553	missense variant	-	NC_000001.11:g.223003853C>A	ClinVar
DISP1	Q96F81	p.Ala822Gly	rs1263103965	missense variant	-	NC_000001.11:g.223003862C>G	gnomAD
DISP1	Q96F81	p.Gln824His	rs751130024	missense variant	-	NC_000001.11:g.223003869G>C	ExAC,gnomAD
DISP1	Q96F81	p.Gln824Arg	rs763588849	missense variant	-	NC_000001.11:g.223003868A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ala825Val	rs1487376385	missense variant	-	NC_000001.11:g.223003871C>T	TOPMed
DISP1	Q96F81	p.His829Arg	COSM4028550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003883A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.His829Tyr	RCV000478275	missense variant	-	NC_000001.11:g.223003882C>T	ClinVar
DISP1	Q96F81	p.His829Tyr	rs760552910	missense variant	-	NC_000001.11:g.223003882C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Cys831Arg	rs1361869246	missense variant	-	NC_000001.11:g.223003888T>C	TOPMed
DISP1	Q96F81	p.Gln832Glu	rs531689215	missense variant	-	NC_000001.11:g.223003891C>G	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn836Lys	rs1416273209	missense variant	-	NC_000001.11:g.223003905C>A	gnomAD
DISP1	Q96F81	p.Phe839Leu	rs1244593629	missense variant	-	NC_000001.11:g.223003914C>G	TOPMed
DISP1	Q96F81	p.Phe839Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223003914C>A	NCI-TCGA
DISP1	Q96F81	p.Phe840Leu	rs780652006	missense variant	-	NC_000001.11:g.223003915T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Phe840Ser	rs754113301	missense variant	-	NC_000001.11:g.223003916T>C	ExAC,gnomAD
DISP1	Q96F81	p.Gln842Arg	rs911650631	missense variant	-	NC_000001.11:g.223003922A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Thr843Ile	rs1320262116	missense variant	-	NC_000001.11:g.223003925C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Ile853Thr	rs748388363	missense variant	-	NC_000001.11:g.223003955T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile853Asn	rs748388363	missense variant	-	NC_000001.11:g.223003955T>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu854Lys	rs1444274012	missense variant	-	NC_000001.11:g.223003957G>A	gnomAD
DISP1	Q96F81	p.Glu854Gly	COSM4402019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003958A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Phe856Leu	rs772493389	missense variant	-	NC_000001.11:g.223003963T>C	ExAC,gnomAD
DISP1	Q96F81	p.Lys857Arg	rs1457251226	missense variant	-	NC_000001.11:g.223003967A>G	TOPMed
DISP1	Q96F81	p.Lys857Gln	rs201397298	missense variant	-	NC_000001.11:g.223003966A>C	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gln858Arg	rs747150584	missense variant	-	NC_000001.11:g.223003970A>G	ExAC,gnomAD
DISP1	Q96F81	p.Trp859Cys	COSM1473427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003974G>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Asn862ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223003979A>-	NCI-TCGA
DISP1	Q96F81	p.Gln863Arg	rs1373406921	missense variant	-	NC_000001.11:g.223003985A>G	TOPMed
DISP1	Q96F81	p.Gln863His	COSM679436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003986G>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Asp864Tyr	rs1201123921	missense variant	-	NC_000001.11:g.223003987G>T	TOPMed,gnomAD
DISP1	Q96F81	p.Asp864His	rs1201123921	missense variant	-	NC_000001.11:g.223003987G>C	TOPMed,gnomAD
DISP1	Q96F81	p.Pro868Thr	rs1457678098	missense variant	-	NC_000001.11:g.223003999C>A	gnomAD
DISP1	Q96F81	p.Ala869Ser	rs770730341	missense variant	-	NC_000001.11:g.223004002G>T	ExAC,gnomAD
DISP1	Q96F81	p.Tyr871Asn	rs769581422	missense variant	-	NC_000001.11:g.223004008T>A	ExAC,gnomAD
DISP1	Q96F81	p.Pro872Leu	rs1478831650	missense variant	-	NC_000001.11:g.223004012C>T	gnomAD
DISP1	Q96F81	p.Ser875Arg	rs762582544	missense variant	-	NC_000001.11:g.223004022C>G	ExAC,gnomAD
DISP1	Q96F81	p.Trp877Gly	rs532488229	missense variant	-	NC_000001.11:g.223004026T>G	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Pro880Ser	rs773822529	missense variant	-	NC_000001.11:g.223004035C>T	ExAC,gnomAD
DISP1	Q96F81	p.Glu884Lys	COSM3484038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004047G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu884Asp	rs138904556	missense variant	-	NC_000001.11:g.223004049G>T	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu884Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004048A>G	NCI-TCGA
DISP1	Q96F81	p.Glu884Asp	rs138904556	missense variant	-	NC_000001.11:g.223004049G>T	NCI-TCGA
DISP1	Q96F81	p.Phe886Val	rs1422752664	missense variant	-	NC_000001.11:g.223004053T>G	TOPMed
DISP1	Q96F81	p.Phe886Cys	COSM3418794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004054T>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu887Lys	rs1359521196	missense variant	-	NC_000001.11:g.223004056G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Glu887Ter	rs1359521196	stop gained	-	NC_000001.11:g.223004056G>T	TOPMed,gnomAD
DISP1	Q96F81	p.Leu888Arg	rs754384908	missense variant	-	NC_000001.11:g.223004060T>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile890Asn	rs1209436557	missense variant	-	NC_000001.11:g.223004066T>A	TOPMed
DISP1	Q96F81	p.Ile890Leu	rs1341873442	missense variant	-	NC_000001.11:g.223004065A>C	gnomAD
DISP1	Q96F81	p.Ala893Thr	rs1481193986	missense variant	-	NC_000001.11:g.223004074G>A	TOPMed
DISP1	Q96F81	p.Ile894Thr	rs1218740081	missense variant	-	NC_000001.11:g.223004078T>C	gnomAD
DISP1	Q96F81	p.Met895Lys	rs1217144107	missense variant	-	NC_000001.11:g.223004081T>A	TOPMed
DISP1	Q96F81	p.Glu896Val	rs921413613	missense variant	-	NC_000001.11:g.223004084A>T	TOPMed
DISP1	Q96F81	p.Glu896Gln	rs1276968609	missense variant	-	NC_000001.11:g.223004083G>C	gnomAD
DISP1	Q96F81	p.Arg899Ser	rs1217272059	missense variant	-	NC_000001.11:g.223004094G>C	TOPMed,gnomAD
DISP1	Q96F81	p.Ser900Gly	rs199544731	missense variant	-	NC_000001.11:g.223004095A>G	1000Genomes
DISP1	Q96F81	p.Ser900Asn	rs765696618	missense variant	-	NC_000001.11:g.223004096G>A	ExAC,gnomAD
DISP1	Q96F81	p.Ser900Arg	rs753157479	missense variant	-	NC_000001.11:g.223004097T>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly902Glu	rs143532301	missense variant	-	NC_000001.11:g.223004102G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly902Arg	rs758659029	missense variant	-	NC_000001.11:g.223004101G>A	ExAC,gnomAD
DISP1	Q96F81	p.Tyr903Cys	rs543931560	missense variant	-	NC_000001.11:g.223004105A>G	gnomAD
DISP1	Q96F81	p.His904Asn	rs1298800689	missense variant	-	NC_000001.11:g.223004107C>A	TOPMed
DISP1	Q96F81	p.His904Tyr	rs1298800689	missense variant	-	NC_000001.11:g.223004107C>T	TOPMed
DISP1	Q96F81	p.Leu905Ser	rs757370413	missense variant	-	NC_000001.11:g.223004111T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp906Gly	rs1399534420	missense variant	-	NC_000001.11:g.223004114A>G	TOPMed
DISP1	Q96F81	p.Ser907Gly	RCV000757157	missense variant	-	NC_000001.11:g.223004116A>G	ClinVar
DISP1	Q96F81	p.Ser907Gly	rs934670686	missense variant	-	NC_000001.11:g.223004116A>G	TOPMed
DISP1	Q96F81	p.Pro910Ser	rs1425668107	missense variant	-	NC_000001.11:g.223004125C>T	gnomAD
DISP1	Q96F81	p.Pro912Leu	rs370723049	missense variant	-	NC_000001.11:g.223004132C>T	ESP,gnomAD
DISP1	Q96F81	p.Phe914Cys	rs1400171455	missense variant	-	NC_000001.11:g.223004138T>G	gnomAD
DISP1	Q96F81	p.Phe914Cys	rs1400171455	missense variant	-	NC_000001.11:g.223004138T>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ile916Val	rs1481483940	missense variant	-	NC_000001.11:g.223004143A>G	TOPMed
DISP1	Q96F81	p.Asn917Lys	rs1403384115	missense variant	-	NC_000001.11:g.223004148T>A	gnomAD
DISP1	Q96F81	p.Asn917Ser	rs769780977	missense variant	-	NC_000001.11:g.223004147A>G	ExAC,gnomAD
DISP1	Q96F81	p.Asp918Gly	rs1337770054	missense variant	-	NC_000001.11:g.223004150A>G	gnomAD
DISP1	Q96F81	p.Asp918Tyr	rs1375978788	missense variant	-	NC_000001.11:g.223004149G>T	TOPMed
DISP1	Q96F81	p.Arg921Ser	rs775244309	missense variant	-	NC_000001.11:g.223004160G>T	ExAC,gnomAD
DISP1	Q96F81	p.Arg921Met	rs1429313480	missense variant	-	NC_000001.11:g.223004159G>T	gnomAD
DISP1	Q96F81	p.Ala922Ser	rs1163877976	missense variant	-	NC_000001.11:g.223004161G>T	gnomAD
DISP1	Q96F81	p.Val924Met	rs1219044828	missense variant	-	NC_000001.11:g.223004167G>A	gnomAD
DISP1	Q96F81	p.Val924Ala	rs1276874869	missense variant	-	NC_000001.11:g.223004168T>C	gnomAD
DISP1	Q96F81	p.Leu925Val	rs1356125293	missense variant	-	NC_000001.11:g.223004170T>G	NCI-TCGA
DISP1	Q96F81	p.Leu925Val	rs1356125293	missense variant	-	NC_000001.11:g.223004170T>G	TOPMed,gnomAD
DISP1	Q96F81	p.Gln928Ter	rs368598646	stop gained	-	NC_000001.11:g.223004179C>T	ESP,ExAC
DISP1	Q96F81	p.Gln928Arg	rs116310302	missense variant	-	NC_000001.11:g.223004180A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr930Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004186C>T	NCI-TCGA
DISP1	Q96F81	p.Tyr931Ser	rs772668830	missense variant	-	NC_000001.11:g.223004189A>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr931His	rs902109375	missense variant	-	NC_000001.11:g.223004188T>C	gnomAD
DISP1	Q96F81	p.Glu938Ter	rs765882083	stop gained	-	NC_000001.11:g.223004209G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys939Glu	rs1420005163	missense variant	-	NC_000001.11:g.223004212A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Gln942Lys	rs1231801318	missense variant	-	NC_000001.11:g.223004221C>A	TOPMed
DISP1	Q96F81	p.Tyr944Cys	rs1335995969	missense variant	-	NC_000001.11:g.223004228A>G	TOPMed
DISP1	Q96F81	p.Ser949Leu	rs758853404	missense variant	-	NC_000001.11:g.223004243C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ser949Leu	rs758853404	missense variant	-	NC_000001.11:g.223004243C>T	NCI-TCGA
DISP1	Q96F81	p.Trp950Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004247G>T	NCI-TCGA
DISP1	Q96F81	p.Ser952Phe	rs1332203207	missense variant	-	NC_000001.11:g.223004252C>T	gnomAD
DISP1	Q96F81	p.Ser953Asn	rs1375839584	missense variant	-	NC_000001.11:g.223004255G>A	TOPMed
DISP1	Q96F81	p.Ser956Cys	rs952101465	missense variant	-	NC_000001.11:g.223004263A>T	TOPMed,gnomAD
DISP1	Q96F81	p.Ser956Asn	rs757488321	missense variant	-	NC_000001.11:g.223004264G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser956Ile	rs757488321	missense variant	-	NC_000001.11:g.223004264G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser957Leu	rs191290309	missense variant	-	NC_000001.11:g.223004267C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser957Leu	rs191290309	missense variant	-	NC_000001.11:g.223004267C>T	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu960Gln	COSM414614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004275G>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Gly961Asp	rs756014852	missense variant	-	NC_000001.11:g.223004279G>A	ExAC,gnomAD
DISP1	Q96F81	p.Ser963Gly	rs1211734741	missense variant	-	NC_000001.11:g.223004284A>G	gnomAD
DISP1	Q96F81	p.Asn964Lys	rs780000188	missense variant	-	NC_000001.11:g.223004289T>G	ExAC
DISP1	Q96F81	p.Asn964Ser	rs1450970962	missense variant	-	NC_000001.11:g.223004288A>G	gnomAD
DISP1	Q96F81	p.Trp966Cys	rs749035153	missense variant	-	NC_000001.11:g.223004295G>T	ExAC
DISP1	Q96F81	p.Trp966Ter	rs749035153	stop gained	-	NC_000001.11:g.223004295G>A	ExAC
DISP1	Q96F81	p.Trp966Ter	RCV000223782	nonsense	microform holoprosencephaly	NC_000001.11:g.223004295G>A	ClinVar
DISP1	Q96F81	p.Val968Phe	rs574387803	missense variant	-	NC_000001.11:g.223004299G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn970Ser	rs113641550	missense variant	-	NC_000001.11:g.223004306A>G	TOPMed
DISP1	Q96F81	p.Leu971Pro	rs1440052517	missense variant	-	NC_000001.11:g.223004309T>C	gnomAD
DISP1	Q96F81	p.Phe973Val	rs747836454	missense variant	-	NC_000001.11:g.223004314T>G	ExAC,gnomAD
DISP1	Q96F81	p.Phe973Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004316C>A	NCI-TCGA
DISP1	Q96F81	p.Tyr974Cys	rs771684471	missense variant	-	NC_000001.11:g.223004318A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp975Glu	rs760288803	missense variant	-	NC_000001.11:g.223004322C>A	ExAC,gnomAD
DISP1	Q96F81	p.Asp975Glu	rs760288803	missense variant	-	NC_000001.11:g.223004322C>A	NCI-TCGA
DISP1	Q96F81	p.Asp978Tyr	rs1441196962	missense variant	-	NC_000001.11:g.223004329G>T	TOPMed
DISP1	Q96F81	p.Ser979Gly	rs763341969	missense variant	-	NC_000001.11:g.223004332A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ser979Cys	rs763341969	missense variant	-	NC_000001.11:g.223004332A>T	ExAC,gnomAD
DISP1	Q96F81	p.Asp982Asn	rs762072719	missense variant	-	NC_000001.11:g.223004341G>A	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Asp982Asn	rs762072719	missense variant	-	NC_000001.11:g.223004341G>A	ExAC,gnomAD
DISP1	Q96F81	p.Gly983Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004344G>T	NCI-TCGA
DISP1	Q96F81	p.Thr984Ile	rs750462520	missense variant	-	NC_000001.11:g.223004348C>T	ExAC
DISP1	Q96F81	p.Thr984Ser	rs750462520	missense variant	-	NC_000001.11:g.223004348C>G	ExAC
DISP1	Q96F81	p.Leu985Val	rs756210932	missense variant	-	NC_000001.11:g.223004350C>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Leu985Arg	rs779910274	missense variant	-	NC_000001.11:g.223004351T>G	ExAC,gnomAD
DISP1	Q96F81	p.Met988Leu	rs754978377	missense variant	-	NC_000001.11:g.223004359A>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met988Leu	rs754978377	missense variant	-	NC_000001.11:g.223004359A>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met988Val	rs754978377	missense variant	-	NC_000001.11:g.223004359A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser991Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004368T>C	NCI-TCGA
DISP1	Q96F81	p.Val992Ile	rs1287769213	missense variant	-	NC_000001.11:g.223004371G>A	TOPMed
DISP1	Q96F81	p.Ala993Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004375C>A	NCI-TCGA
DISP1	Q96F81	p.Ser997Gly	rs1315511349	missense variant	-	NC_000001.11:g.223004386A>G	TOPMed
DISP1	Q96F81	p.Val998Met	rs765028963	missense variant	-	NC_000001.11:g.223004389G>A	ExAC,gnomAD
DISP1	Q96F81	p.Val998Leu	rs765028963	missense variant	-	NC_000001.11:g.223004389G>T	ExAC,gnomAD
DISP1	Q96F81	p.Met999Val	rs1425254005	missense variant	-	NC_000001.11:g.223004392A>G	gnomAD
DISP1	Q96F81	p.Thr1003Pro	COSM4028556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004404A>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Thr1003Asn	rs776345397	missense variant	-	NC_000001.11:g.223004405C>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr1003Ile	rs776345397	missense variant	-	NC_000001.11:g.223004405C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Trp1004Cys	rs763540751	missense variant	-	NC_000001.11:g.223004409G>C	ExAC,gnomAD
DISP1	Q96F81	p.Ile1008Val	rs924869801	missense variant	-	NC_000001.11:g.223004419A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Leu1010Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004425C>T	NCI-TCGA
DISP1	Q96F81	p.Tyr1011Ser	rs1403112498	missense variant	-	NC_000001.11:g.223004429A>C	gnomAD
DISP1	Q96F81	p.Ala1012Val	rs1387200351	missense variant	-	NC_000001.11:g.223004432C>T	TOPMed
DISP1	Q96F81	p.Ala1012Val	rs1387200351	missense variant	-	NC_000001.11:g.223004432C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ile1013Val	rs769091015	missense variant	-	NC_000001.11:g.223004434A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ile1014Thr	rs774748002	missense variant	-	NC_000001.11:g.223004438T>C	ExAC,gnomAD
DISP1	Q96F81	p.Ile1016Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004444T>C	NCI-TCGA
DISP1	Q96F81	p.Ala1017Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004446G>A	NCI-TCGA
DISP1	Q96F81	p.Thr1019Met	rs762116103	missense variant	-	NC_000001.11:g.223004453C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ile1020Val	rs750659344	missense variant	-	NC_000001.11:g.223004455A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Phe1021Leu	rs760684378	missense variant	-	NC_000001.11:g.223004458T>C	ExAC,gnomAD
DISP1	Q96F81	p.Phe1021Cys	rs766445253	missense variant	-	NC_000001.11:g.223004459T>G	ExAC,gnomAD
DISP1	Q96F81	p.Ser1026Ala	rs1472728438	missense variant	-	NC_000001.11:g.223004473T>G	TOPMed,gnomAD
DISP1	Q96F81	p.Ser1026Tyr	rs753980966	missense variant	-	NC_000001.11:g.223004474C>A	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser1026Phe	COSM1689891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004474C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser1026Tyr	rs753980966	missense variant	-	NC_000001.11:g.223004474C>A	ExAC,gnomAD
DISP1	Q96F81	p.Leu1027Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004476C>G	NCI-TCGA
DISP1	Q96F81	p.Leu1027Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004476C>T	NCI-TCGA
DISP1	Q96F81	p.Val1028Ile	rs1217927537	missense variant	-	NC_000001.11:g.223004479G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Leu1029Val	rs1237479245	missense variant	-	NC_000001.11:g.223004482C>G	TOPMed
DISP1	Q96F81	p.Trp1032Cys	rs758139027	missense variant	-	NC_000001.11:g.223004493G>T	ExAC,gnomAD
DISP1	Q96F81	p.Asn1035Asp	rs757026962	missense variant	-	NC_000001.11:g.223004500A>G	ExAC,gnomAD
DISP1	Q96F81	p.Asn1035Asp	rs757026962	missense variant	-	NC_000001.11:g.223004500A>G	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Asn1035Ser	RCV000486922	missense variant	-	NC_000001.11:g.223004501A>G	ClinVar
DISP1	Q96F81	p.Asn1035Ser	rs192049195	missense variant	-	NC_000001.11:g.223004501A>G	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Glu1038Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004509G>C	NCI-TCGA
DISP1	Q96F81	p.Thr1041Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004518A>G	NCI-TCGA
DISP1	Q96F81	p.Ile1042Thr	rs1441336617	missense variant	-	NC_000001.11:g.223004522T>C	gnomAD
DISP1	Q96F81	p.Ser1043Leu	rs943680811	missense variant	-	NC_000001.11:g.223004525C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser1043Leu	rs943680811	missense variant	-	NC_000001.11:g.223004525C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Ala1045Val	rs1401799043	missense variant	-	NC_000001.11:g.223004531C>T	gnomAD
DISP1	Q96F81	p.Val1046Ile	rs779451585	missense variant	-	NC_000001.11:g.223004533G>A	gnomAD
DISP1	Q96F81	p.Gly1047Ser	rs748488978	missense variant	-	NC_000001.11:g.223004536G>A	NCI-TCGA
DISP1	Q96F81	p.Gly1047Ser	rs748488978	missense variant	-	NC_000001.11:g.223004536G>A	ExAC,gnomAD
DISP1	Q96F81	p.Val1050Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004546T>C	NCI-TCGA
DISP1	Q96F81	p.Asp1051Glu	COSM679435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004550C>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Phe1052Val	COSM679433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004551T>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ala1053Val	rs576683817	missense variant	-	NC_000001.11:g.223004555C>T	NCI-TCGA
DISP1	Q96F81	p.Ala1053Val	rs576683817	missense variant	-	NC_000001.11:g.223004555C>T	1000Genomes,gnomAD
DISP1	Q96F81	p.Ala1053Pro	rs773636648	missense variant	-	NC_000001.11:g.223004554G>C	ExAC,gnomAD
DISP1	Q96F81	p.Val1054Ile	rs766641928	missense variant	-	NC_000001.11:g.223004557G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1054Ile	rs766641928	missense variant	-	NC_000001.11:g.223004557G>A	NCI-TCGA
DISP1	Q96F81	p.Val1054Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004558T>C	NCI-TCGA
DISP1	Q96F81	p.His1055Tyr	COSM3484040	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004560C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Val1058Ile	rs1399418551	missense variant	-	NC_000001.11:g.223004569G>A	TOPMed
DISP1	Q96F81	p.Arg1061Cys	rs371849402	missense variant	-	NC_000001.11:g.223004578C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg1061His	rs765161029	missense variant	-	NC_000001.11:g.223004579G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro1064Leu	rs1260302134	missense variant	-	NC_000001.11:g.223004588C>T	gnomAD
DISP1	Q96F81	p.Pro1064Ala	rs758426284	missense variant	-	NC_000001.11:g.223004587C>G	ExAC,gnomAD
DISP1	Q96F81	p.Asp1065Gly	rs763967788	missense variant	-	NC_000001.11:g.223004591A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp1067His	rs200714482	missense variant	-	NC_000001.11:g.223004596G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp1067Asn	rs200714482	missense variant	-	NC_000001.11:g.223004596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg1068Ter	rs781023274	stop gained	-	NC_000001.11:g.223004599C>T	ExAC,gnomAD
DISP1	Q96F81	p.Arg1068Gln	rs745335414	missense variant	-	NC_000001.11:g.223004600G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg1068Ter	RCV000519011	nonsense	-	NC_000001.11:g.223004599C>T	ClinVar
DISP1	Q96F81	p.Glu1069Lys	rs755594706	missense variant	-	NC_000001.11:g.223004602G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu1069Gly	RCV000481343	missense variant	-	NC_000001.11:g.223004603A>G	ClinVar
DISP1	Q96F81	p.Glu1069Gly	rs1064795201	missense variant	-	NC_000001.11:g.223004603A>G	-
DISP1	Q96F81	p.Gly1070Ala	rs74148215	missense variant	-	NC_000001.11:g.223004606G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly1070Asp	rs74148215	missense variant	-	NC_000001.11:g.223004606G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile1073Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004614A>G	NCI-TCGA
DISP1	Q96F81	p.Arg1078Leu	rs150111973	missense variant	-	NC_000001.11:g.223004630G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg1078His	rs150111973	missense variant	-	NC_000001.11:g.223004630G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg1078Cys	rs773546911	missense variant	-	NC_000001.11:g.223004629C>T	ExAC,gnomAD
DISP1	Q96F81	p.Val1079Met	rs76611705	missense variant	-	NC_000001.11:g.223004632G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1079Leu	rs76611705	missense variant	-	NC_000001.11:g.223004632G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1081Tyr	COSM904359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004639C>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ala1082Val	rs765224335	missense variant	-	NC_000001.11:g.223004642C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala1082Val	rs765224335	missense variant	-	NC_000001.11:g.223004642C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Met1083Leu	rs369366153	missense variant	-	NC_000001.11:g.223004644A>C	ESP,TOPMed,gnomAD
DISP1	Q96F81	p.Met1083Ile	rs764166328	missense variant	-	NC_000001.11:g.223004646G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met1083Val	rs369366153	missense variant	-	NC_000001.11:g.223004644A>G	ESP,TOPMed,gnomAD
DISP1	Q96F81	p.Ala1084Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004648C>T	NCI-TCGA
DISP1	Q96F81	p.Met1085Val	rs1349478217	missense variant	-	NC_000001.11:g.223004650A>G	TOPMed
DISP1	Q96F81	p.Ala1087Gly	rs757140927	missense variant	-	NC_000001.11:g.223004657C>G	ExAC,gnomAD
DISP1	Q96F81	p.Phe1091Cys	rs1381172097	missense variant	-	NC_000001.11:g.223004669T>G	gnomAD
DISP1	Q96F81	p.Phe1091Ile	rs767221242	missense variant	-	NC_000001.11:g.223004668T>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1092Met	rs151272947	missense variant	-	NC_000001.11:g.223004671G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala1095Thr	rs1176608154	missense variant	-	NC_000001.11:g.223004680G>A	gnomAD
DISP1	Q96F81	p.Met1096Val	rs201752012	missense variant	-	NC_000001.11:g.223004683A>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met1096Thr	rs144673025	missense variant	-	NC_000001.11:g.223004684T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met1098Val	rs1392074655	missense variant	-	NC_000001.11:g.223004689A>G	gnomAD
DISP1	Q96F81	p.Met1098Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004691G>A	NCI-TCGA
DISP1	Q96F81	p.Pro1099Leu	rs772292374	missense variant	-	NC_000001.11:g.223004693C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1100Phe	COSM1689892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004696C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Val1102Gly	COSM6061739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004702T>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Val1102Ile	rs1221655544	missense variant	-	NC_000001.11:g.223004701G>A	gnomAD
DISP1	Q96F81	p.Ala1104Pro	rs913637974	missense variant	-	NC_000001.11:g.223004707G>C	TOPMed
DISP1	Q96F81	p.Thr1106Ile	rs1423095017	missense variant	-	NC_000001.11:g.223004714C>T	gnomAD
DISP1	Q96F81	p.Thr1106Ala	rs781666190	missense variant	-	NC_000001.11:g.223004713A>G	ExAC,gnomAD
DISP1	Q96F81	p.Met1112Thr	rs770102959	missense variant	-	NC_000001.11:g.223004732T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met1112Ile	rs1458903064	missense variant	-	NC_000001.11:g.223004733G>A	TOPMed
DISP1	Q96F81	p.Met1113Val	rs775401031	missense variant	-	NC_000001.11:g.223004734A>G	ExAC,gnomAD
DISP1	Q96F81	p.Met1113Lys	rs763124800	missense variant	-	NC_000001.11:g.223004735T>A	ExAC,gnomAD
DISP1	Q96F81	p.Ile1115Met	rs548908533	missense variant	-	NC_000001.11:g.223004742C>G	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Ile1118Val	rs1414029812	missense variant	-	NC_000001.11:g.223004749A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Ile1118Asn	rs774444607	missense variant	-	NC_000001.11:g.223004750T>A	ExAC,gnomAD
DISP1	Q96F81	p.Trp1120Ter	rs1415610435	stop gained	-	NC_000001.11:g.223004757G>A	gnomAD
DISP1	Q96F81	p.Ala1121Val	rs1467069354	missense variant	-	NC_000001.11:g.223004759C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Ala1121Gly	rs1467069354	missense variant	-	NC_000001.11:g.223004759C>G	TOPMed,gnomAD
DISP1	Q96F81	p.Ala1123Thr	rs1402808733	missense variant	-	NC_000001.11:g.223004764G>A	TOPMed,gnomAD
DISP1	Q96F81	p.Ala1123Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004764G>T	NCI-TCGA
DISP1	Q96F81	p.Gln1128His	rs145137054	missense variant	-	NC_000001.11:g.223004781G>C	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Met1130Ile	rs1439647875	missense variant	-	NC_000001.11:g.223004787G>A	gnomAD
DISP1	Q96F81	p.Arg1132Gln	rs143043410	missense variant	-	NC_000001.11:g.223004792G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg1132Trp	rs760225936	missense variant	-	NC_000001.11:g.223004791C>T	ExAC,gnomAD
DISP1	Q96F81	p.Cys1133Phe	rs1227261823	missense variant	-	NC_000001.11:g.223004795G>T	gnomAD
DISP1	Q96F81	p.Cys1133Ter	rs754492774	stop gained	-	NC_000001.11:g.223004796C>A	ExAC,gnomAD
DISP1	Q96F81	p.Leu1134Phe	rs1372181516	missense variant	-	NC_000001.11:g.223004797C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Leu1134ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223004798_223004820TTGGACCACAGGGTACCTGTGGT>-	NCI-TCGA
DISP1	Q96F81	p.Gly1138Ala	rs1202745707	missense variant	-	NC_000001.11:g.223004810G>C	gnomAD
DISP1	Q96F81	p.Gly1138Ser	rs752053269	missense variant	-	NC_000001.11:g.223004809G>A	ExAC,gnomAD
DISP1	Q96F81	p.Thr1139Ile	rs760771357	missense variant	-	NC_000001.11:g.223004813C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Cys1140Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.223004815_223004816insAG	NCI-TCGA
DISP1	Q96F81	p.Gly1141Ser	rs1483673756	missense variant	-	NC_000001.11:g.223004818G>A	gnomAD
DISP1	Q96F81	p.Ile1143Thr	rs1255413828	missense variant	-	NC_000001.11:g.223004825T>C	gnomAD
DISP1	Q96F81	p.Pro1144Leu	COSM904361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004828C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Lys1148AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223004836A>-	NCI-TCGA
DISP1	Q96F81	p.Cys1151Arg	rs746283315	missense variant	-	NC_000001.11:g.223004848T>C	ExAC,gnomAD
DISP1	Q96F81	p.Ser1152Gly	rs141653283	missense variant	-	NC_000001.11:g.223004851A>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1152Gly	rs141653283	missense variant	-	NC_000001.11:g.223004851A>G	NCI-TCGA
DISP1	Q96F81	p.Ala1153Val	rs1177901257	missense variant	-	NC_000001.11:g.223004855C>T	gnomAD
DISP1	Q96F81	p.Phe1154Val	rs780345599	missense variant	-	NC_000001.11:g.223004857T>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1155Phe	COSM3484042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004861C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.His1156Arg	rs1341818570	missense variant	-	NC_000001.11:g.223004864A>G	gnomAD
DISP1	Q96F81	p.Ala1157Val	rs749324608	missense variant	-	NC_000001.11:g.223004867C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ala1157Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004866G>A	NCI-TCGA
DISP1	Q96F81	p.Thr1160Ala	rs774640911	missense variant	-	NC_000001.11:g.223004875A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ser1163Asn	rs376562189	missense variant	-	NC_000001.11:g.223004885G>A	ESP,ExAC,gnomAD
DISP1	Q96F81	p.Ser1163Gly	rs61743732	missense variant	-	NC_000001.11:g.223004884A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1163Gly	RCV000757156	missense variant	-	NC_000001.11:g.223004884A>G	ClinVar
DISP1	Q96F81	p.Asp1164Tyr	rs772854919	missense variant	-	NC_000001.11:g.223004887G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys1165Glu	rs760553860	missense variant	-	NC_000001.11:g.223004890A>G	ExAC,gnomAD
DISP1	Q96F81	p.Gly1166Arg	rs765903966	missense variant	-	NC_000001.11:g.223004893G>A	ExAC,gnomAD
DISP1	Q96F81	p.Ser1168Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004900G>T	NCI-TCGA
DISP1	Q96F81	p.Asn1174Ser	rs897895048	missense variant	-	NC_000001.11:g.223004918A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Asn1174Tyr	rs759248532	missense variant	-	NC_000001.11:g.223004917A>T	ExAC,gnomAD
DISP1	Q96F81	p.Ala1175Ser	rs764710984	missense variant	-	NC_000001.11:g.223004920G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala1175Val	rs1196374759	missense variant	-	NC_000001.11:g.223004921C>T	gnomAD
DISP1	Q96F81	p.Ala1175Thr	rs764710984	missense variant	-	NC_000001.11:g.223004920G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.His1177Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004926C>T	NCI-TCGA
DISP1	Q96F81	p.Asp1179Ala	rs571258186	missense variant	-	NC_000001.11:g.223004933A>C	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Asp1179Asn	rs768099137	missense variant	-	NC_000001.11:g.223004932G>A	ExAC,gnomAD
DISP1	Q96F81	p.Pro1180Ser	COSM4489828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004935C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Arg1181Ser	rs1326374316	missense variant	-	NC_000001.11:g.223004940G>T	NCI-TCGA
DISP1	Q96F81	p.Arg1181Ser	rs1326374316	missense variant	-	NC_000001.11:g.223004940G>T	gnomAD
DISP1	Q96F81	p.Gly1182Val	rs903615335	missense variant	-	NC_000001.11:g.223004942G>T	TOPMed
DISP1	Q96F81	p.Gly1182Cys	rs756514692	missense variant	-	NC_000001.11:g.223004941G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly1182Ser	rs756514692	missense variant	-	NC_000001.11:g.223004941G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys1184Gln	rs1372168474	missense variant	-	NC_000001.11:g.223004947A>C	gnomAD
DISP1	Q96F81	p.Glu1186Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004954A>T	NCI-TCGA
DISP1	Q96F81	p.His1189Arg	rs999218801	missense variant	-	NC_000001.11:g.223004963A>G	TOPMed
DISP1	Q96F81	p.His1189Pro	COSM6124935	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004963A>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu1190Gln	COSM254652	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004965G>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Phe1191Ser	rs373963776	missense variant	-	NC_000001.11:g.223004969T>C	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu1193Lys	COSM3484043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004974G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu1193Asp	rs1217448078	missense variant	-	NC_000001.11:g.223004976A>C	gnomAD
DISP1	Q96F81	p.Pro1196Ser	rs1031827162	missense variant	-	NC_000001.11:g.223004983C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Pro1196Leu	rs1451993871	missense variant	-	NC_000001.11:g.223004984C>T	gnomAD
DISP1	Q96F81	p.Pro1196His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223004984C>A	NCI-TCGA
DISP1	Q96F81	p.Ser1199Phe	rs755310780	missense variant	-	NC_000001.11:g.223004993C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ser1201Arg	rs779116132	missense variant	-	NC_000001.11:g.223005000C>A	ExAC,gnomAD
DISP1	Q96F81	p.Cys1202Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005002G>C	NCI-TCGA
DISP1	Q96F81	p.Thr1203Ile	rs748281770	missense variant	-	NC_000001.11:g.223005005C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ala1204Val	rs771868499	missense variant	-	NC_000001.11:g.223005008C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro1205His	rs773228647	missense variant	-	NC_000001.11:g.223005011C>A	ExAC,gnomAD
DISP1	Q96F81	p.Glu1206Asp	rs559553543	missense variant	-	NC_000001.11:g.223005015G>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr1208Ile	rs759163712	missense variant	-	NC_000001.11:g.223005020C>T	ExAC,gnomAD
DISP1	Q96F81	p.Thr1209Ala	rs140037475	missense variant	-	NC_000001.11:g.223005022A>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Glu1212Gln	rs1326089162	missense variant	-	NC_000001.11:g.223005031G>C	TOPMed,gnomAD
DISP1	Q96F81	p.Thr1213Pro	rs765153780	missense variant	-	NC_000001.11:g.223005034A>C	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Thr1213Pro	rs765153780	missense variant	-	NC_000001.11:g.223005034A>C	ExAC,gnomAD
DISP1	Q96F81	p.Thr1213Ile	rs1445260660	missense variant	-	NC_000001.11:g.223005035C>T	TOPMed
DISP1	Q96F81	p.Ile1215Val	rs1358057867	missense variant	-	NC_000001.11:g.223005040A>G	TOPMed
DISP1	Q96F81	p.Ile1215Phe	rs1358057867	missense variant	-	NC_000001.11:g.223005040A>T	TOPMed
DISP1	Q96F81	p.Glu1218Gln	rs750944404	missense variant	-	NC_000001.11:g.223005049G>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1222Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005062G>A	NCI-TCGA
DISP1	Q96F81	p.Gln1223Arg	rs756647421	missense variant	-	NC_000001.11:g.223005065A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala1224Gly	COSM6061737	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005068C>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Asn1226Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005074A>T	NCI-TCGA
DISP1	Q96F81	p.Leu1227Ser	rs1240017866	missense variant	-	NC_000001.11:g.223005077T>C	gnomAD
DISP1	Q96F81	p.Gly1228Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005079G>T	NCI-TCGA
DISP1	Q96F81	p.Met1229Ile	rs766753675	missense variant	-	NC_000001.11:g.223005084G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro1230Ser	rs754305951	missense variant	-	NC_000001.11:g.223005085C>T	ExAC,gnomAD
DISP1	Q96F81	p.Val1231Met	rs755222820	missense variant	-	NC_000001.11:g.223005088G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1231Leu	rs755222820	missense variant	-	NC_000001.11:g.223005088G>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr1235Asp	rs748194236	missense variant	-	NC_000001.11:g.223005100T>G	ExAC,gnomAD
DISP1	Q96F81	p.Tyr1235Ter	rs1467939710	stop gained	-	NC_000001.11:g.223005102C>A	TOPMed,gnomAD
DISP1	Q96F81	p.Tyr1235Ter	RCV000579116	nonsense	-	NC_000001.11:g.223005102C>A	ClinVar
DISP1	Q96F81	p.Asn1236Ser	rs758505802	missense variant	-	NC_000001.11:g.223005104A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ser1237Gly	rs1180037992	missense variant	-	NC_000001.11:g.223005106A>G	TOPMed
DISP1	Q96F81	p.Leu1239Pro	rs115615723	missense variant	-	NC_000001.11:g.223005113T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys1241Asn	rs1457989201	missense variant	-	NC_000001.11:g.223005120A>C	gnomAD
DISP1	Q96F81	p.Glu1244Ter	COSM3804017	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.223005127G>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser1245Arg	rs746964677	missense variant	-	NC_000001.11:g.223005132T>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp1246Glu	rs72744122	missense variant	-	NC_000001.11:g.223005135C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp1246Gly	rs764362546	missense variant	-	NC_000001.11:g.223005134A>G	gnomAD
DISP1	Q96F81	p.Ala1247Ser	rs9441940	missense variant	-	NC_000001.11:g.223005136G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ala1247Thr	rs9441940	missense variant	-	NC_000001.11:g.223005136G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro1254Ala	COSM904362	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005157C>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Pro1254Ser	rs1228265904	missense variant	-	NC_000001.11:g.223005157C>T	TOPMed
DISP1	Q96F81	p.Pro1255Leu	rs1392231452	missense variant	-	NC_000001.11:g.223005161C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Pro1255Ser	rs763645744	missense variant	-	NC_000001.11:g.223005160C>T	ExAC,gnomAD
DISP1	Q96F81	p.Leu1256Pro	rs773799152	missense variant	-	NC_000001.11:g.223005164T>C	ExAC,gnomAD
DISP1	Q96F81	p.Glu1257Asp	rs151004865	missense variant	-	NC_000001.11:g.223005168A>C	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gln1258Ter	rs1247114380	stop gained	-	NC_000001.11:g.223005169C>T	gnomAD
DISP1	Q96F81	p.His1259Arg	rs766841925	missense variant	-	NC_000001.11:g.223005173A>G	ExAC
DISP1	Q96F81	p.Val1261Met	RCV000506084	missense variant	-	NC_000001.11:g.223005178G>A	ClinVar
DISP1	Q96F81	p.Val1261Leu	rs61746480	missense variant	-	NC_000001.11:g.223005178G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1261Met	rs61746480	missense variant	-	NC_000001.11:g.223005178G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.His1263Pro	rs752958936	missense variant	-	NC_000001.11:g.223005185A>C	ExAC,TOPMed
DISP1	Q96F81	p.Phe1265Leu	rs1259820531	missense variant	-	NC_000001.11:g.223005190T>C	gnomAD
DISP1	Q96F81	p.Asn1268Ser	rs1194917138	missense variant	-	NC_000001.11:g.223005200A>G	gnomAD
DISP1	Q96F81	p.Gln1269His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005204G>C	NCI-TCGA
DISP1	Q96F81	p.Cys1271Tyr	rs777881907	missense variant	-	NC_000001.11:g.223005209G>A	ExAC,gnomAD
DISP1	Q96F81	p.Cys1273Phe	rs1443724161	missense variant	-	NC_000001.11:g.223005215G>T	gnomAD
DISP1	Q96F81	p.Pro1274Leu	rs1476865164	missense variant	-	NC_000001.11:g.223005218C>T	TOPMed
DISP1	Q96F81	p.Asp1275Asn	rs757172195	missense variant	-	NC_000001.11:g.223005220G>A	ExAC,gnomAD
DISP1	Q96F81	p.Asp1275Ala	rs543740042	missense variant	-	NC_000001.11:g.223005221A>C	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Tyr1277His	COSM463986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005226T>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Tyr1277Phe	rs565286472	missense variant	-	NC_000001.11:g.223005227A>T	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys1278Ile	rs779881634	missense variant	-	NC_000001.11:g.223005230A>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.His1279Asp	rs748964993	missense variant	-	NC_000001.11:g.223005232C>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.His1279Tyr	rs748964993	missense variant	-	NC_000001.11:g.223005232C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Leu1280Met	rs754468285	missense variant	-	NC_000001.11:g.223005235T>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn1281Ile	rs149190569	missense variant	-	NC_000001.11:g.223005239A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Tyr1282His	rs1326917582	missense variant	-	NC_000001.11:g.223005241T>C	gnomAD
DISP1	Q96F81	p.Tyr1282Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005242A>G	NCI-TCGA
DISP1	Q96F81	p.His1285Arg	rs1249332552	missense variant	-	NC_000001.11:g.223005251A>G	gnomAD
DISP1	Q96F81	p.His1285Tyr	rs761249398	missense variant	-	NC_000001.11:g.223005250C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ser1286Pro	rs771521993	missense variant	-	NC_000001.11:g.223005253T>C	ExAC,gnomAD
DISP1	Q96F81	p.Ser1286Thr	rs771521993	missense variant	-	NC_000001.11:g.223005253T>A	ExAC,gnomAD
DISP1	Q96F81	p.Ser1286Tyr	rs1211139189	missense variant	-	NC_000001.11:g.223005254C>A	gnomAD
DISP1	Q96F81	p.Gln1289His	COSM1501480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005264G>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Gln1289Ter	rs1484385404	stop gained	-	NC_000001.11:g.223005262C>T	gnomAD
DISP1	Q96F81	p.Met1290Val	rs1043428331	missense variant	-	NC_000001.11:g.223005265A>G	TOPMed
DISP1	Q96F81	p.Gly1291Glu	rs1195161968	missense variant	-	NC_000001.11:g.223005269G>A	gnomAD
DISP1	Q96F81	p.Asp1292His	rs1429568532	missense variant	-	NC_000001.11:g.223005271G>C	gnomAD
DISP1	Q96F81	p.Leu1294Trp	rs1392387966	missense variant	-	NC_000001.11:g.223005278T>G	TOPMed
DISP1	Q96F81	p.His1296Arg	rs1467826731	missense variant	-	NC_000001.11:g.223005284A>G	gnomAD
DISP1	Q96F81	p.His1296Tyr	rs1371698223	missense variant	-	NC_000001.11:g.223005283C>T	gnomAD
DISP1	Q96F81	p.Ser1299Phe	rs753047329	missense variant	-	NC_000001.11:g.223005293C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1299Pro	rs765696705	missense variant	-	NC_000001.11:g.223005292T>C	ExAC,gnomAD
DISP1	Q96F81	p.Ser1299PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223005292_223005293insTTTG	NCI-TCGA
DISP1	Q96F81	p.Pro1300Thr	rs61838467	missense variant	-	NC_000001.11:g.223005295C>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro1300Ser	rs61838467	missense variant	-	NC_000001.11:g.223005295C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr1301Ala	rs764247196	missense variant	-	NC_000001.11:g.223005298A>G	ExAC,gnomAD
DISP1	Q96F81	p.Thr1301Ile	rs202223783	missense variant	-	NC_000001.11:g.223005299C>T	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Thr1302Ala	rs949588915	missense variant	-	NC_000001.11:g.223005301A>G	TOPMed
DISP1	Q96F81	p.Ser1303Thr	rs1332581627	missense variant	-	NC_000001.11:g.223005305G>C	gnomAD
DISP1	Q96F81	p.Ser1303Gly	rs757289454	missense variant	-	NC_000001.11:g.223005304A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1304Thr	rs781051159	missense variant	-	NC_000001.11:g.223005308G>C	ExAC,gnomAD
DISP1	Q96F81	p.Ser1304Asn	rs781051159	missense variant	-	NC_000001.11:g.223005308G>A	ExAC,gnomAD
DISP1	Q96F81	p.Phe1305Leu	rs201104916	missense variant	-	NC_000001.11:g.223005310T>C	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1306Ala	rs756110743	missense variant	-	NC_000001.11:g.223005314T>C	ExAC,gnomAD
DISP1	Q96F81	p.Gln1307Pro	rs779791789	missense variant	-	NC_000001.11:g.223005317A>C	ExAC,gnomAD
DISP1	Q96F81	p.Gln1307His	COSM414613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005318G>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ile1308Met	rs1486518369	missense variant	-	NC_000001.11:g.223005321C>G	TOPMed,gnomAD
DISP1	Q96F81	p.Gly1311Ser	rs143356409	missense variant	-	NC_000001.11:g.223005328G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1312Met	rs147445335	missense variant	-	NC_000001.11:g.223005331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1312Met	rs147445335	missense variant	-	NC_000001.11:g.223005331G>A	NCI-TCGA
DISP1	Q96F81	p.Ala1313Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005334G>T	NCI-TCGA
DISP1	Q96F81	p.Leu1315Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005340C>A	NCI-TCGA
DISP1	Q96F81	p.Ala1317Val	rs772927612	missense variant	-	NC_000001.11:g.223005347C>T	ExAC,gnomAD
DISP1	Q96F81	p.Thr1318Ile	rs760092614	missense variant	-	NC_000001.11:g.223005350C>T	ExAC,gnomAD
DISP1	Q96F81	p.Ala1321Thr	rs138305944	missense variant	-	NC_000001.11:g.223005358G>A	ESP,TOPMed
DISP1	Q96F81	p.Ala1321Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005359C>T	NCI-TCGA
DISP1	Q96F81	p.Val1322Ile	rs1328173884	missense variant	-	NC_000001.11:g.223005361G>A	NCI-TCGA
DISP1	Q96F81	p.Val1322Ile	rs1328173884	missense variant	-	NC_000001.11:g.223005361G>A	-
DISP1	Q96F81	p.Glu1323Lys	rs149927406	missense variant	-	NC_000001.11:g.223005364G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Phe1325Ser	rs200895673	missense variant	-	NC_000001.11:g.223005371T>C	TOPMed,gnomAD
DISP1	Q96F81	p.Val1326Leu	rs549797135	missense variant	-	NC_000001.11:g.223005373G>C	1000Genomes
DISP1	Q96F81	p.His1327Arg	rs1392739069	missense variant	-	NC_000001.11:g.223005377A>G	gnomAD
DISP1	Q96F81	p.His1327Gln	rs763260621	missense variant	-	NC_000001.11:g.223005378C>A	ExAC,gnomAD
DISP1	Q96F81	p.Ile1329Val	rs142220719	missense variant	-	NC_000001.11:g.223005382A>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr1330Met	rs140229487	missense variant	-	NC_000001.11:g.223005386C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr1330Met	rs140229487	missense variant	-	NC_000001.11:g.223005386C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.His1331Tyr	rs767580243	missense variant	-	NC_000001.11:g.223005388C>T	ExAC,gnomAD
DISP1	Q96F81	p.His1331Pro	rs750541511	missense variant	-	NC_000001.11:g.223005389A>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.His1331Ter	RCV000480989	frameshift	-	NC_000001.11:g.223005387_223005390del	ClinVar
DISP1	Q96F81	p.His1331Pro	RCV000271064	missense variant	-	NC_000001.11:g.223005389A>C	ClinVar
DISP1	Q96F81	p.His1334Tyr	rs756022821	missense variant	-	NC_000001.11:g.223005397C>T	ExAC,gnomAD
DISP1	Q96F81	p.His1334Arg	rs1361876483	missense variant	-	NC_000001.11:g.223005398A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Cys1337Ter	RCV000484674	frameshift	-	NC_000001.11:g.223005405del	ClinVar
DISP1	Q96F81	p.Gln1339Arg	rs753627240	missense variant	-	NC_000001.11:g.223005413A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1342Ile	rs754730870	missense variant	-	NC_000001.11:g.223005421G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1342Leu	rs754730870	missense variant	-	NC_000001.11:g.223005421G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Val1342Ala	rs199726209	missense variant	-	NC_000001.11:g.223005422T>C	1000Genomes
DISP1	Q96F81	p.Ala1345Val	rs1156949331	missense variant	-	NC_000001.11:g.223005431C>T	gnomAD
DISP1	Q96F81	p.Gly1346Arg	rs201945216	missense variant	-	NC_000001.11:g.223005433G>A	1000Genomes,ExAC,gnomAD
DISP1	Q96F81	p.Gly1346Val	rs777402944	missense variant	-	NC_000001.11:g.223005434G>T	ExAC,gnomAD
DISP1	Q96F81	p.Met1347Ile	rs746542625	missense variant	-	NC_000001.11:g.223005438G>A	ExAC,gnomAD
DISP1	Q96F81	p.Gln1348Ter	rs757725090	stop gained	-	NC_000001.11:g.223005439C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1350Tyr	COSM904365	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005446C>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser1350Phe	rs1298365713	missense variant	-	NC_000001.11:g.223005446C>T	gnomAD
DISP1	Q96F81	p.Leu1351Met	rs775867344	missense variant	-	NC_000001.11:g.223005448C>A	ExAC,gnomAD
DISP1	Q96F81	p.Pro1352Ser	rs952023183	missense variant	-	NC_000001.11:g.223005451C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Asn1354Ile	rs749610405	missense variant	-	NC_000001.11:g.223005458A>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Phe1355Val	rs1337594863	missense variant	-	NC_000001.11:g.223005460T>G	gnomAD
DISP1	Q96F81	p.Phe1355Cys	rs774846237	missense variant	-	NC_000001.11:g.223005461T>G	ExAC,gnomAD
DISP1	Q96F81	p.Phe1356Leu	rs761990609	missense variant	-	NC_000001.11:g.223005463T>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Leu1357Phe	rs773225361	missense variant	-	NC_000001.11:g.223005466C>T	ExAC,gnomAD
DISP1	Q96F81	p.His1358Tyr	rs1246547595	missense variant	-	NC_000001.11:g.223005469C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.His1358Arg	rs760772361	missense variant	-	NC_000001.11:g.223005470A>G	ExAC,gnomAD
DISP1	Q96F81	p.His1358Tyr	rs1246547595	missense variant	-	NC_000001.11:g.223005469C>T	gnomAD
DISP1	Q96F81	p.Gln1361Leu	rs1175560522	missense variant	-	NC_000001.11:g.223005479A>T	gnomAD
DISP1	Q96F81	p.His1362Leu	rs1259698969	missense variant	-	NC_000001.11:g.223005482A>T	gnomAD
DISP1	Q96F81	p.Lys1368Arg	rs907966375	missense variant	-	NC_000001.11:g.223005500A>G	TOPMed
DISP1	Q96F81	p.Ile1369Thr	rs753729422	missense variant	-	NC_000001.11:g.223005503T>C	ExAC,gnomAD
DISP1	Q96F81	p.Ile1369Asn	rs753729422	missense variant	-	NC_000001.11:g.223005503T>A	ExAC,gnomAD
DISP1	Q96F81	p.Thr1372Asn	rs1217182971	missense variant	-	NC_000001.11:g.223005512C>A	gnomAD
DISP1	Q96F81	p.Asn1373Ser	rs966094631	missense variant	-	NC_000001.11:g.223005515A>G	TOPMed,gnomAD
DISP1	Q96F81	p.Asn1373Ile	rs966094631	missense variant	-	NC_000001.11:g.223005515A>T	TOPMed,gnomAD
DISP1	Q96F81	p.Asn1373Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005516T>A	NCI-TCGA
DISP1	Q96F81	p.Val1374Ala	rs1353892860	missense variant	-	NC_000001.11:g.223005518T>C	TOPMed
DISP1	Q96F81	p.Leu1377Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005526C>A	NCI-TCGA
DISP1	Q96F81	p.Gln1378Pro	rs1311223877	missense variant	-	NC_000001.11:g.223005530A>C	TOPMed
DISP1	Q96F81	p.Arg1379Lys	rs1444244913	missense variant	-	NC_000001.11:g.223005533G>A	TOPMed
DISP1	Q96F81	p.Ser1380Gly	rs1335148087	missense variant	-	NC_000001.11:g.223005535A>G	TOPMed
DISP1	Q96F81	p.Ser1380Asn	rs368932347	missense variant	-	NC_000001.11:g.223005536G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1380Ile	rs368932347	missense variant	-	NC_000001.11:g.223005536G>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ile1381Lys	rs756843012	missense variant	-	NC_000001.11:g.223005539T>A	ExAC,gnomAD
DISP1	Q96F81	p.Ile1381Val	rs746454664	missense variant	-	NC_000001.11:g.223005538A>G	ExAC,gnomAD
DISP1	Q96F81	p.Glu1382Asp	rs1047026561	missense variant	-	NC_000001.11:g.223005543A>T	TOPMed,gnomAD
DISP1	Q96F81	p.Glu1382Ter	rs780813634	stop gained	-	NC_000001.11:g.223005541G>T	ExAC,gnomAD
DISP1	Q96F81	p.His1384Tyr	rs1216066535	missense variant	-	NC_000001.11:g.223005547C>T	TOPMed,gnomAD
DISP1	Q96F81	p.His1384Arg	rs749754282	missense variant	-	NC_000001.11:g.223005548A>G	ExAC,gnomAD
DISP1	Q96F81	p.Leu1385Pro	rs1274071713	missense variant	-	NC_000001.11:g.223005551T>C	gnomAD
DISP1	Q96F81	p.Ser1392Leu	rs140794097	missense variant	-	NC_000001.11:g.223005572C>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1392Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005571T>C	NCI-TCGA
DISP1	Q96F81	p.Val1395CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223005576_223005577insT	NCI-TCGA
DISP1	Q96F81	p.Ser1398Arg	rs1190208202	missense variant	-	NC_000001.11:g.223005589A>C	TOPMed
DISP1	Q96F81	p.Ser1398Asn	RCV000203143	missense variant	-	NC_000001.11:g.223005590G>A	ClinVar
DISP1	Q96F81	p.Ser1398Asn	rs864309626	missense variant	-	NC_000001.11:g.223005590G>A	-
DISP1	Q96F81	p.Thr1399Ile	rs535953365	missense variant	-	NC_000001.11:g.223005593C>T	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly1400Ala	rs770897795	missense variant	-	NC_000001.11:g.223005596G>C	ExAC,gnomAD
DISP1	Q96F81	p.Gly1400Glu	rs770897795	missense variant	-	NC_000001.11:g.223005596G>A	ExAC,gnomAD
DISP1	Q96F81	p.Ser1401Leu	COSM904366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005599C>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Leu1402Phe	rs1418528461	missense variant	-	NC_000001.11:g.223005603A>T	gnomAD
DISP1	Q96F81	p.Leu1402Phe	rs1418528461	missense variant	-	NC_000001.11:g.223005603A>C	gnomAD
DISP1	Q96F81	p.Leu1403Phe	rs1440755547	missense variant	-	NC_000001.11:g.223005604C>T	gnomAD
DISP1	Q96F81	p.Thr1405Met	rs776835311	missense variant	-	NC_000001.11:g.223005611C>T	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Thr1405Met	rs776835311	missense variant	-	NC_000001.11:g.223005611C>T	ExAC,gnomAD
DISP1	Q96F81	p.Cys1406Tyr	rs372648781	missense variant	-	NC_000001.11:g.223005614G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Cys1406Ser	rs372648781	missense variant	-	NC_000001.11:g.223005614G>C	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Cys1406Phe	rs372648781	missense variant	-	NC_000001.11:g.223005614G>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp1408Gly	rs763783431	missense variant	-	NC_000001.11:g.223005620A>G	ExAC,gnomAD
DISP1	Q96F81	p.Asp1408Tyr	rs375930920	missense variant	-	NC_000001.11:g.223005619G>T	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp1408Asn	rs375930920	missense variant	-	NC_000001.11:g.223005619G>A	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Pro1409Thr	COSM6061735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005622C>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu1410Lys	rs148545972	missense variant	-	NC_000001.11:g.223005625G>A	NCI-TCGA,NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu1410Asp	COSM280400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005627G>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu1410Lys	rs148545972	missense variant	-	NC_000001.11:g.223005625G>A	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn1411Ser	rs949126146	missense variant	-	NC_000001.11:g.223005629A>G	TOPMed
DISP1	Q96F81	p.Lys1412Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005631A>G	NCI-TCGA
DISP1	Q96F81	p.Gln1413Lys	rs1239345647	missense variant	-	NC_000001.11:g.223005634C>A	TOPMed,gnomAD
DISP1	Q96F81	p.Arg1414Met	COSM5754353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005638G>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Glu1415Asp	rs780537309	missense variant	-	NC_000001.11:g.223005642A>C	ExAC,gnomAD
DISP1	Q96F81	p.Cys1417Arg	rs184692250	missense variant	-	NC_000001.11:g.223005646T>C	1000Genomes,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg1420Thr	COSM3804018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005656G>C	NCI-TCGA Cosmic
DISP1	Q96F81	p.Asp1421ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223005655_223005656AG>-	NCI-TCGA
DISP1	Q96F81	p.Val1422Met	rs748442304	missense variant	-	NC_000001.11:g.223005661G>A	NCI-TCGA
DISP1	Q96F81	p.Val1422Met	rs748442304	missense variant	-	NC_000001.11:g.223005661G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1423Arg	COSM1560270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005666C>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Ser1423Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005665G>A	NCI-TCGA
DISP1	Q96F81	p.Glu1426Gln	rs772437730	missense variant	-	NC_000001.11:g.223005673G>C	ExAC,gnomAD
DISP1	Q96F81	p.Ser1427Asn	rs1474318620	missense variant	-	NC_000001.11:g.223005677G>A	gnomAD
DISP1	Q96F81	p.Ser1427Arg	rs1195224040	missense variant	-	NC_000001.11:g.223005678C>A	gnomAD
DISP1	Q96F81	p.Gly1429Ala	rs1180963823	missense variant	-	NC_000001.11:g.223005683G>C	gnomAD
DISP1	Q96F81	p.Gly1429Arg	rs778164331	missense variant	-	NC_000001.11:g.223005682G>A	NCI-TCGA
DISP1	Q96F81	p.Gly1429Arg	rs778164331	missense variant	-	NC_000001.11:g.223005682G>A	ExAC,gnomAD
DISP1	Q96F81	p.Gly1430Ala	rs1171267449	missense variant	-	NC_000001.11:g.223005686G>C	gnomAD
DISP1	Q96F81	p.Asn1433Ile	rs771237562	missense variant	-	NC_000001.11:g.223005695A>T	ExAC,gnomAD
DISP1	Q96F81	p.Lys1434Arg	rs1402991108	missense variant	-	NC_000001.11:g.223005698A>G	gnomAD
DISP1	Q96F81	p.Gly1436GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223005703G>-	NCI-TCGA
DISP1	Q96F81	p.Leu1441Val	rs776528560	missense variant	-	NC_000001.11:g.223005718C>G	ExAC,gnomAD
DISP1	Q96F81	p.Leu1441Pro	rs1472114570	missense variant	-	NC_000001.11:g.223005719T>C	TOPMed
DISP1	Q96F81	p.Leu1443Phe	rs759695907	missense variant	-	NC_000001.11:g.223005726G>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Thr1446Met	rs769555149	missense variant	-	NC_000001.11:g.223005734C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asp1447Asn	rs1264965051	missense variant	-	NC_000001.11:g.223005736G>A	TOPMed
DISP1	Q96F81	p.Ser1449Gly	rs1446002472	missense variant	-	NC_000001.11:g.223005742A>G	TOPMed
DISP1	Q96F81	p.Ser1449Thr	rs1273219315	missense variant	-	NC_000001.11:g.223005743G>C	gnomAD
DISP1	Q96F81	p.Val1450Gly	rs1290329622	missense variant	-	NC_000001.11:g.223005746T>G	TOPMed
DISP1	Q96F81	p.Asn1451Thr	rs763978032	missense variant	-	NC_000001.11:g.223005749A>C	ExAC,gnomAD
DISP1	Q96F81	p.Ser1452Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005752C>T	NCI-TCGA
DISP1	Q96F81	p.His1454Arg	rs751442180	missense variant	-	NC_000001.11:g.223005758A>G	ExAC,gnomAD
DISP1	Q96F81	p.Gln1457His	rs761349550	missense variant	-	NC_000001.11:g.223005768G>T	ExAC,gnomAD
DISP1	Q96F81	p.Pro1460Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005775C>T	NCI-TCGA
DISP1	Q96F81	p.Pro1460Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005776C>T	NCI-TCGA
DISP1	Q96F81	p.Val1462Leu	rs767221546	missense variant	-	NC_000001.11:g.223005781G>C	ExAC,gnomAD
DISP1	Q96F81	p.Leu1463Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005784C>A	NCI-TCGA
DISP1	Q96F81	p.Phe1464LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223005787T>-	NCI-TCGA
DISP1	Q96F81	p.Asn1465Thr	rs574804436	missense variant	-	NC_000001.11:g.223005791A>C	1000Genomes,gnomAD
DISP1	Q96F81	p.Asn1465Ser	rs574804436	missense variant	-	NC_000001.11:g.223005791A>G	1000Genomes,gnomAD
DISP1	Q96F81	p.His1466Asn	rs1234160630	missense variant	-	NC_000001.11:g.223005793C>A	TOPMed,gnomAD
DISP1	Q96F81	p.His1466Tyr	rs1234160630	missense variant	-	NC_000001.11:g.223005793C>T	TOPMed,gnomAD
DISP1	Q96F81	p.Leu1467Ter	rs755652972	stop gained	-	NC_000001.11:g.223005797T>G	ExAC,gnomAD
DISP1	Q96F81	p.Leu1467Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005796T>G	NCI-TCGA
DISP1	Q96F81	p.Met1468Val	rs1157440062	missense variant	-	NC_000001.11:g.223005799A>G	gnomAD
DISP1	Q96F81	p.Glu1470GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.223005800_223005801insG	NCI-TCGA
DISP1	Q96F81	p.Glu1470Lys	rs1407895828	missense variant	-	NC_000001.11:g.223005805G>A	gnomAD
DISP1	Q96F81	p.Ala1471Pro	rs779331685	missense variant	-	NC_000001.11:g.223005808G>C	ExAC,gnomAD
DISP1	Q96F81	p.Arg1474Met	COSM463988	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005818G>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Pro1477Ser	rs753187333	missense variant	-	NC_000001.11:g.223005826C>T	ExAC,gnomAD
DISP1	Q96F81	p.Asn1478Asp	rs976555303	missense variant	-	NC_000001.11:g.223005829A>G	TOPMed
DISP1	Q96F81	p.Asn1479Thr	COSM1339109	inframe deletion	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005833_223005835ATT>-	NCI-TCGA Cosmic
DISP1	Q96F81	p.Gln1481Arg	rs1321858480	missense variant	-	NC_000001.11:g.223005839A>G	gnomAD
DISP1	Q96F81	p.Ser1482Gly	rs1337717746	missense variant	-	NC_000001.11:g.223005841A>G	gnomAD
DISP1	Q96F81	p.Cys1483Arg	rs1278976909	missense variant	-	NC_000001.11:g.223005844T>C	TOPMed,gnomAD
DISP1	Q96F81	p.Cys1483Tyr	rs778076307	missense variant	-	NC_000001.11:g.223005845G>A	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Gly1484Ala	rs747426432	missense variant	-	NC_000001.11:g.223005848G>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Arg1485Gly	rs771022524	missense variant	-	NC_000001.11:g.223005850A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ile1486Phe	COSM679430	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005853A>T	NCI-TCGA Cosmic
DISP1	Q96F81	p.Val1489Met	rs1207793873	missense variant	-	NC_000001.11:g.223005862G>A	gnomAD
DISP1	Q96F81	p.Val1489Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005862G>C	NCI-TCGA
DISP1	Q96F81	p.Asn1492Ser	rs769904969	missense variant	-	NC_000001.11:g.223005872A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Asn1492His	rs745880424	missense variant	-	NC_000001.11:g.223005871A>C	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1493Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005875C>A	NCI-TCGA
DISP1	Q96F81	p.Asn1500Asp	rs775781701	missense variant	-	NC_000001.11:g.223005895A>G	ExAC,gnomAD
DISP1	Q96F81	p.Asn1500Ser	COSM269018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005896A>G	NCI-TCGA Cosmic
DISP1	Q96F81	p.Asn1500Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005896A>C	NCI-TCGA
DISP1	Q96F81	p.Met1501Arg	rs749206498	missense variant	-	NC_000001.11:g.223005899T>G	ExAC,TOPMed
DISP1	Q96F81	p.Asn1504Ser	rs769713960	missense variant	-	NC_000001.11:g.223005908A>G	gnomAD
DISP1	Q96F81	p.Asn1504Thr	rs769713960	missense variant	-	NC_000001.11:g.223005908A>C	gnomAD
DISP1	Q96F81	p.Val1505Met	COSM4028561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005910G>A	NCI-TCGA Cosmic
DISP1	Q96F81	p.Val1505Ala	rs1419156058	missense variant	-	NC_000001.11:g.223005911T>C	gnomAD
DISP1	Q96F81	p.Pro1506His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005914C>A	NCI-TCGA
DISP1	Q96F81	p.Val1508Leu	rs377366887	missense variant	-	NC_000001.11:g.223005919G>C	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.His1511Arg	rs761698778	missense variant	-	NC_000001.11:g.223005929A>G	ExAC,gnomAD
DISP1	Q96F81	p.His1511Leu	rs761698778	missense variant	-	NC_000001.11:g.223005929A>T	ExAC,gnomAD
DISP1	Q96F81	p.Ser1512Trp	rs767009595	missense variant	-	NC_000001.11:g.223005932C>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1512Leu	rs767009595	missense variant	-	NC_000001.11:g.223005932C>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ser1515Pro	rs1190787612	missense variant	-	NC_000001.11:g.223005940T>C	TOPMed
DISP1	Q96F81	p.Glu1517Gly	rs753382335	missense variant	-	NC_000001.11:g.223005947A>G	ExAC,gnomAD
DISP1	Q96F81	p.Ser1518Thr	rs758857129	missense variant	-	NC_000001.11:g.223005950G>C	ExAC,gnomAD
DISP1	Q96F81	p.Leu1519Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.223005952T>G	NCI-TCGA
DISP1	Q96F81	p.Leu1520Ter	rs368507546	stop gained	-	NC_000001.11:g.223005956T>G	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Leu1520Ser	rs368507546	missense variant	-	NC_000001.11:g.223005956T>C	ESP,ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys1522Ter	rs751806386	stop gained	-	NC_000001.11:g.223005961A>T	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Lys1522Glu	rs751806386	missense variant	-	NC_000001.11:g.223005961A>G	ExAC,TOPMed,gnomAD
DISP1	Q96F81	p.Ter1525Gln	rs746100916	stop lost	-	NC_000001.11:g.223005970T>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Thr2Ile	rs774514491	missense variant	-	NC_000012.12:g.71686685C>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Asp3Ala	rs371734502	missense variant	-	NC_000012.12:g.71686688A>C	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Asp6Gly	rs1411417897	missense variant	-	NC_000012.12:g.71686697A>G	gnomAD
TMEM19	Q96HH6	p.Asp6Asn	rs1419905789	missense variant	-	NC_000012.12:g.71686696G>A	gnomAD
TMEM19	Q96HH6	p.Asn7Asp	rs768378170	missense variant	-	NC_000012.12:g.71686699A>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Asn7Ser	rs544264753	missense variant	-	NC_000012.12:g.71686700A>G	1000Genomes,TOPMed
TMEM19	Q96HH6	p.Asn7His	rs768378170	missense variant	-	NC_000012.12:g.71686699A>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile8Thr	rs761737401	missense variant	-	NC_000012.12:g.71686703T>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Cys9Ter	rs1359127741	stop gained	-	NC_000012.12:g.71686707C>A	TOPMed
TMEM19	Q96HH6	p.Arg11Ile	rs773253602	missense variant	-	NC_000012.12:g.71686712G>T	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Arg11Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71686712G>A	NCI-TCGA
TMEM19	Q96HH6	p.Ile13Val	rs1331026163	missense variant	-	NC_000012.12:g.71686717A>G	gnomAD
TMEM19	Q96HH6	p.Met15Ile	rs1284002528	missense variant	-	NC_000012.12:g.71686725G>A	gnomAD
TMEM19	Q96HH6	p.Met15Val	rs766018189	missense variant	-	NC_000012.12:g.71686723A>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile16Leu	rs751209495	missense variant	-	NC_000012.12:g.71686726A>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile19Thr	rs148461856	missense variant	-	NC_000012.12:g.71686736T>C	ESP,ExAC,gnomAD
TMEM19	Q96HH6	p.Val20Phe	COSM943274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71686738G>T	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Ile21Val	rs1204391664	missense variant	-	NC_000012.12:g.71686741A>G	gnomAD
TMEM19	Q96HH6	p.Ile25Val	rs1440653097	missense variant	-	NC_000012.12:g.71686753A>G	gnomAD
TMEM19	Q96HH6	p.Ile25Thr	rs1186703212	missense variant	-	NC_000012.12:g.71686754T>C	gnomAD
TMEM19	Q96HH6	p.Ile26Val	rs756549553	missense variant	-	NC_000012.12:g.71686756A>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile28Leu	rs778107523	missense variant	-	NC_000012.12:g.71686762A>C	ExAC
TMEM19	Q96HH6	p.Leu30Phe	rs34694164	missense variant	-	NC_000012.12:g.71686770A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Phe32Leu	rs757275716	missense variant	-	NC_000012.12:g.71686774T>C	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ile35Val	rs778975423	missense variant	-	NC_000012.12:g.71686783A>G	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ile35Met	rs746025972	missense variant	-	NC_000012.12:g.71686785A>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Ser36Leu	rs772279188	missense variant	-	NC_000012.12:g.71686787C>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Met37Val	rs1392862917	missense variant	-	NC_000012.12:g.71686789A>G	TOPMed
TMEM19	Q96HH6	p.Met37Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71686791G>T	NCI-TCGA
TMEM19	Q96HH6	p.Ser40Asn	rs1413373795	missense variant	-	NC_000012.12:g.71686799G>A	gnomAD
TMEM19	Q96HH6	p.Ser40Arg	COSM3792952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71686800C>A	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Thr41Ile	rs199711484	missense variant	-	NC_000012.12:g.71686802C>T	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Thr41Asn	rs199711484	missense variant	-	NC_000012.12:g.71686802C>A	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Tyr42His	rs1438939204	missense variant	-	NC_000012.12:g.71686804T>C	TOPMed
TMEM19	Q96HH6	p.Tyr43Phe	rs747877936	missense variant	-	NC_000012.12:g.71686808A>T	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Leu46Phe	rs151006044	missense variant	-	NC_000012.12:g.71689598A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Arg47Gln	rs143587024	missense variant	-	NC_000012.12:g.71689600G>A	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Arg47Ter	rs139987159	stop gained	-	NC_000012.12:g.71689599C>T	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Pro51Leu	rs373199946	missense variant	-	NC_000012.12:g.71689612C>T	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Pro51Leu	rs373199946	missense variant	-	NC_000012.12:g.71689612C>T	NCI-TCGA
TMEM19	Q96HH6	p.Trp52Arg	rs770976603	missense variant	-	NC_000012.12:g.71689614T>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Arg53His	rs1028721416	missense variant	-	NC_000012.12:g.71689618G>A	TOPMed,gnomAD
TMEM19	Q96HH6	p.Arg53His	rs1028721416	missense variant	-	NC_000012.12:g.71689618G>A	NCI-TCGA
TMEM19	Q96HH6	p.Arg53Cys	rs774479268	missense variant	-	NC_000012.12:g.71689617C>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Trp54Cys	rs1380211305	missense variant	-	NC_000012.12:g.71689622G>T	TOPMed,gnomAD
TMEM19	Q96HH6	p.Ser57Ala	rs1458796868	missense variant	-	NC_000012.12:g.71689629T>G	gnomAD
TMEM19	Q96HH6	p.Val58Ile	rs80148012	missense variant	-	NC_000012.12:g.71689632G>A	TOPMed,gnomAD
TMEM19	Q96HH6	p.Val58Phe	rs80148012	missense variant	-	NC_000012.12:g.71689632G>T	TOPMed,gnomAD
TMEM19	Q96HH6	p.Val59Ala	rs759085407	missense variant	-	NC_000012.12:g.71689636T>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Val60Gly	rs771734950	missense variant	-	NC_000012.12:g.71689639T>G	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Pro61Leu	rs774952942	missense variant	-	NC_000012.12:g.71689642C>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile64Asn	rs764296039	missense variant	-	NC_000012.12:g.71689651T>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Val65Ile	rs541328998	missense variant	-	NC_000012.12:g.71689653G>A	1000Genomes,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Asn67Ser	rs1263399840	missense variant	-	NC_000012.12:g.71689660A>G	gnomAD
TMEM19	Q96HH6	p.Leu69Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71689665C>A	NCI-TCGA
TMEM19	Q96HH6	p.Lys71Arg	rs1355236915	missense variant	-	NC_000012.12:g.71689672A>G	gnomAD
TMEM19	Q96HH6	p.Leu74Gln	rs765714677	missense variant	-	NC_000012.12:g.71689681T>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Leu74Val	rs933171598	missense variant	-	NC_000012.12:g.71689680C>G	TOPMed
TMEM19	Q96HH6	p.Leu74Pro	rs765714677	missense variant	-	NC_000012.12:g.71689681T>C	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Gly78Glu	rs1213131908	missense variant	-	NC_000012.12:g.71689693G>A	TOPMed
TMEM19	Q96HH6	p.Ala79Asp	rs750972285	missense variant	-	NC_000012.12:g.71689696C>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ala79Val	rs750972285	missense variant	-	NC_000012.12:g.71689696C>T	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ala79Thr	rs1456105801	missense variant	-	NC_000012.12:g.71689695G>A	gnomAD
TMEM19	Q96HH6	p.Leu80Val	rs758433045	missense variant	-	NC_000012.12:g.71689698C>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Gly82Trp	rs751675599	missense variant	-	NC_000012.12:g.71689704G>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Val84Ile	rs755060805	missense variant	-	NC_000012.12:g.71696441G>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Val85Ile	rs150015329	missense variant	-	NC_000012.12:g.71696444G>A	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ile88Phe	rs145311574	missense variant	-	NC_000012.12:g.71696453A>T	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Leu89Pro	COSM1649008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71696457T>C	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Ile91Thr	rs778860497	missense variant	-	NC_000012.12:g.71696463T>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile91Val	rs1359773423	missense variant	-	NC_000012.12:g.71696462A>G	gnomAD
TMEM19	Q96HH6	p.Asn93His	rs200979424	missense variant	-	NC_000012.12:g.71696468A>C	1000Genomes
TMEM19	Q96HH6	p.Phe96Val	rs745730149	missense variant	-	NC_000012.12:g.71696477T>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Ser99Thr	rs772038769	missense variant	-	NC_000012.12:g.71696486T>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Met102Leu	rs200510701	missense variant	-	NC_000012.12:g.71696495A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Met102Leu	rs200510701	missense variant	-	NC_000012.12:g.71696495A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Leu105Ser	rs1217589298	missense variant	-	NC_000012.12:g.71696505T>C	gnomAD
TMEM19	Q96HH6	p.Leu105Met	rs143199994	missense variant	-	NC_000012.12:g.71696504T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ser106Pro	rs771802343	missense variant	-	NC_000012.12:g.71696507T>C	gnomAD
TMEM19	Q96HH6	p.Ser108Leu	rs776229168	missense variant	-	NC_000012.12:g.71696514C>T	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Thr111Ile	rs770085977	missense variant	-	NC_000012.12:g.71696523C>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Lys114Thr	rs773573209	missense variant	-	NC_000012.12:g.71696532A>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Gly115Arg	rs763295574	missense variant	-	NC_000012.12:g.71696534G>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Glu116Ala	rs766886261	missense variant	-	NC_000012.12:g.71696538A>C	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Lys118Gln	rs371073401	missense variant	-	NC_000012.12:g.71696543A>C	ESP,TOPMed,gnomAD
TMEM19	Q96HH6	p.Arg120His	rs564346366	missense variant	-	NC_000012.12:g.71696550G>A	1000Genomes,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Arg120Gly	rs767516246	missense variant	-	NC_000012.12:g.71696549C>G	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Arg120Cys	rs767516246	missense variant	-	NC_000012.12:g.71696549C>T	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ser123Leu	rs1420180246	missense variant	-	NC_000012.12:g.71696559C>T	gnomAD
TMEM19	Q96HH6	p.Glu124Val	rs1363435164	missense variant	-	NC_000012.12:g.71696562A>T	TOPMed
TMEM19	Q96HH6	p.Tyr125His	rs1299839944	missense variant	-	NC_000012.12:g.71696564T>C	gnomAD
TMEM19	Q96HH6	p.Gly128Ser	rs929537936	missense variant	-	NC_000012.12:g.71696573G>A	TOPMed
TMEM19	Q96HH6	p.Gly128Ala	rs375412302	missense variant	-	NC_000012.12:g.71697280G>C	ESP,ExAC
TMEM19	Q96HH6	p.Gly129Arg	rs1290974341	missense variant	-	NC_000012.12:g.71697282G>A	gnomAD
TMEM19	Q96HH6	p.Gln130Ter	rs1219694406	stop gained	-	NC_000012.12:g.71697285C>T	gnomAD
TMEM19	Q96HH6	p.Asn132Ser	rs1252582919	missense variant	-	NC_000012.12:g.71697292A>G	gnomAD
TMEM19	Q96HH6	p.Asn132Ile	rs1252582919	missense variant	-	NC_000012.12:g.71697292A>T	gnomAD
TMEM19	Q96HH6	p.Val134Ile	rs1180579745	missense variant	-	NC_000012.12:g.71697297G>A	gnomAD
TMEM19	Q96HH6	p.Asn139Lys	rs1158995101	missense variant	-	NC_000012.12:g.71697314T>G	TOPMed
TMEM19	Q96HH6	p.Gly140Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71697316G>A	NCI-TCGA
TMEM19	Q96HH6	p.Ala141Val	rs754877659	missense variant	-	NC_000012.12:g.71697319C>T	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Val142Ala	rs747645355	missense variant	-	NC_000012.12:g.71697322T>C	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Val142Leu	rs1163650096	missense variant	-	NC_000012.12:g.71697321G>C	gnomAD
TMEM19	Q96HH6	p.Pro143Ala	rs371931718	missense variant	-	NC_000012.12:g.71697324C>G	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Pro143Ser	rs371931718	missense variant	-	NC_000012.12:g.71697324C>T	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Glu145Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71697330G>A	NCI-TCGA
TMEM19	Q96HH6	p.Ala147Ser	rs911743215	missense variant	-	NC_000012.12:g.71697336G>T	TOPMed,gnomAD
TMEM19	Q96HH6	p.Leu148Arg	rs748914937	missense variant	-	NC_000012.12:g.71697340T>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Tyr150Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71697346A>G	NCI-TCGA
TMEM19	Q96HH6	p.Met151Val	rs539895477	missense variant	-	NC_000012.12:g.71697348A>G	1000Genomes,ExAC,gnomAD
TMEM19	Q96HH6	p.Ile152Val	rs779146167	missense variant	-	NC_000012.12:g.71697351A>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile152Met	rs1226948765	missense variant	-	NC_000012.12:g.71697353A>G	gnomAD
TMEM19	Q96HH6	p.Gly157Arg	rs746307669	missense variant	-	NC_000012.12:g.71697366G>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Glu158Lys	rs185566519	missense variant	-	NC_000012.12:g.71697369G>A	1000Genomes,ExAC,gnomAD
TMEM19	Q96HH6	p.Glu158Gly	rs1269586318	missense variant	-	NC_000012.12:g.71697370A>G	TOPMed
TMEM19	Q96HH6	p.Glu158LysPheSerTerUnkUnk	COSM5832120	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71697366G>-	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Ile159Val	rs776185157	missense variant	-	NC_000012.12:g.71697372A>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Pro160Leu	rs751102980	missense variant	-	NC_000012.12:g.71697376C>T	TOPMed
TMEM19	Q96HH6	p.Asp162Asn	rs189101751	missense variant	-	NC_000012.12:g.71697381G>A	1000Genomes,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ser164Phe	rs139343453	missense variant	-	NC_000012.12:g.71697388C>T	ESP,ExAC,gnomAD
TMEM19	Q96HH6	p.Gln166Arg	rs141897885	missense variant	-	NC_000012.12:g.71697394A>G	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Gln166Ter	rs761958790	stop gained	-	NC_000012.12:g.71697393C>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Tyr167Cys	rs751308913	missense variant	-	NC_000012.12:g.71697397A>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Tyr167Ter	COSM1649007	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71697398C>A	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Ser168Tyr	rs1344616206	missense variant	-	NC_000012.12:g.71697400C>A	gnomAD
TMEM19	Q96HH6	p.Ala169Thr	rs759386246	missense variant	-	NC_000012.12:g.71697402G>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ala169Asp	rs767422757	missense variant	-	NC_000012.12:g.71697403C>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Trp171Cys	rs369174410	missense variant	-	NC_000012.12:g.71697410G>C	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Trp171Ter	rs369174410	stop gained	-	NC_000012.12:g.71697410G>A	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Met172Thr	rs1212648399	missense variant	-	NC_000012.12:g.71697412T>C	gnomAD
TMEM19	Q96HH6	p.Cys173Gly	rs753459062	missense variant	-	NC_000012.12:g.71697414T>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Cys173Tyr	COSM943277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71697415G>A	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Leu176Pro	rs372043674	missense variant	-	NC_000012.12:g.71697424T>C	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ala178Thr	rs1480842467	missense variant	-	NC_000012.12:g.71697429G>A	TOPMed
TMEM19	Q96HH6	p.Ala179Ser	rs555318960	missense variant	-	NC_000012.12:g.71697432G>T	1000Genomes,ExAC,gnomAD
TMEM19	Q96HH6	p.Ala181Val	rs1188678224	missense variant	-	NC_000012.12:g.71697439C>T	gnomAD
TMEM19	Q96HH6	p.Ala181GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.71697435_71697447CTGGCCTGCTCTG>-	NCI-TCGA
TMEM19	Q96HH6	p.Cys182Ser	rs1263577662	missense variant	-	NC_000012.12:g.71697442G>C	TOPMed,gnomAD
TMEM19	Q96HH6	p.Ala184Ser	rs1489130203	missense variant	-	NC_000012.12:g.71697447G>T	gnomAD
TMEM19	Q96HH6	p.Ala184LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.71697446T>-	NCI-TCGA
TMEM19	Q96HH6	p.Gly185Val	rs768803009	missense variant	-	NC_000012.12:g.71697451G>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Trp188Arg	rs1173748695	missense variant	-	NC_000012.12:g.71697459T>A	gnomAD
TMEM19	Q96HH6	p.Trp188Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.71697461G>A	NCI-TCGA
TMEM19	Q96HH6	p.Trp188Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71697459T>C	NCI-TCGA
TMEM19	Q96HH6	p.Ala189Ser	rs762019749	missense variant	-	NC_000012.12:g.71697462G>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Glu191Ter	COSM943278	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71697468G>T	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Gly193Val	rs773534000	missense variant	-	NC_000012.12:g.71697475G>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Val195Leu	rs767320759	missense variant	-	NC_000012.12:g.71697480G>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Leu196Met	COSM3417113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71697483C>A	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Ser197Arg	rs752572208	missense variant	-	NC_000012.12:g.71697488T>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Ser197Asn	rs1326070347	missense variant	-	NC_000012.12:g.71697487G>A	gnomAD
TMEM19	Q96HH6	p.Lys198Arg	rs760610625	missense variant	-	NC_000012.12:g.71697490A>G	ExAC
TMEM19	Q96HH6	p.Ser199Asn	rs1216286298	missense variant	-	NC_000012.12:g.71697493G>A	TOPMed
TMEM19	Q96HH6	p.Ser200Tyr	COSM285798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71697496C>A	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Pro201Ser	rs764154718	missense variant	-	NC_000012.12:g.71697498C>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Arg202Thr	rs753272057	missense variant	-	NC_000012.12:g.71697502G>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile204Val	rs1286620673	missense variant	-	NC_000012.12:g.71697507A>G	gnomAD
TMEM19	Q96HH6	p.Ile204Met	rs778397424	missense variant	-	NC_000012.12:g.71697509A>G	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Thr205Ile	rs750133871	missense variant	-	NC_000012.12:g.71697511C>T	ExAC
TMEM19	Q96HH6	p.Thr206Ile	rs1415995713	missense variant	-	NC_000012.12:g.71697514C>T	gnomAD
TMEM19	Q96HH6	p.Trp207Ter	rs1260612780	stop gained	-	NC_000012.12:g.71697518G>A	gnomAD
TMEM19	Q96HH6	p.Trp207Cys	COSM1364085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71697518G>T	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Glu208Asp	rs758790110	missense variant	-	NC_000012.12:g.71697521G>C	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Val210Ala	rs1200398443	missense variant	-	NC_000012.12:g.71697526T>C	gnomAD
TMEM19	Q96HH6	p.Val212Ala	rs199575250	missense variant	-	NC_000012.12:g.71697532T>C	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Asn215Ser	rs549228941	missense variant	-	NC_000012.12:g.71698906A>G	1000Genomes,ExAC,gnomAD
TMEM19	Q96HH6	p.Gly216Arg	rs776667945	missense variant	-	NC_000012.12:g.71698908G>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Gly217Arg	COSM695165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71698911G>A	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Val224Ile	rs373448030	missense variant	-	NC_000012.12:g.71698932G>A	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Val224Phe	rs373448030	missense variant	-	NC_000012.12:g.71698932G>T	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ser225Phe	rs199757316	missense variant	-	NC_000012.12:g.71698936C>T	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ser226Asn	rs1165278194	missense variant	-	NC_000012.12:g.71698939G>A	gnomAD
TMEM19	Q96HH6	p.Ser226Gly	rs200522894	missense variant	-	NC_000012.12:g.71698938A>G	TOPMed
TMEM19	Q96HH6	p.Leu228Pro	rs1195263035	missense variant	-	NC_000012.12:g.71698945T>C	TOPMed
TMEM19	Q96HH6	p.Gly229Ser	COSM2153483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71698947G>A	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Gly230Asp	rs751959669	missense variant	-	NC_000012.12:g.71698951G>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Phe232Leu	COSM3872454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71698956T>C	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Gly234Asp	rs781521517	missense variant	-	NC_000012.12:g.71698963G>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Ala236Thr	rs376647341	missense variant	-	NC_000012.12:g.71698968G>A	ESP
TMEM19	Q96HH6	p.Tyr237His	rs1272362512	missense variant	-	NC_000012.12:g.71698971T>C	TOPMed
TMEM19	Q96HH6	p.Phe238Tyr	rs1306166351	missense variant	-	NC_000012.12:g.71698975T>A	gnomAD
TMEM19	Q96HH6	p.Thr240Ala	rs200282974	missense variant	-	NC_000012.12:g.71698980A>G	1000Genomes,ExAC,gnomAD
TMEM19	Q96HH6	p.Ile243Phe	COSM1364086	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71698989A>T	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Val245Met	rs771124231	missense variant	-	NC_000012.12:g.71698995G>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Asn246AsnTerThrPheLeuUnk	rs762407205	stop gained	-	NC_000012.12:g.71699000_71699001insTAGACATTTTTGT	ExAC,gnomAD
TMEM19	Q96HH6	p.Asp247Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71699001G>T	NCI-TCGA
TMEM19	Q96HH6	p.Leu248Ile	rs774602247	missense variant	-	NC_000012.12:g.71699004T>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Asp249His	rs1342604498	missense variant	-	NC_000012.12:g.71699007G>C	TOPMed
TMEM19	Q96HH6	p.Ala252Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71699017C>T	NCI-TCGA
TMEM19	Q96HH6	p.Ala252Thr	rs1014539922	missense variant	-	NC_000012.12:g.71699016G>A	TOPMed
TMEM19	Q96HH6	p.Pro253Leu	rs1459505068	missense variant	-	NC_000012.12:g.71699020C>T	gnomAD
TMEM19	Q96HH6	p.Gln254Arg	rs768525960	missense variant	-	NC_000012.12:g.71699023A>G	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Gln254Pro	rs768525960	missense variant	-	NC_000012.12:g.71699023A>C	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Trp255Arg	rs201709262	missense variant	-	NC_000012.12:g.71699025T>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ala259Val	rs961957156	missense variant	-	NC_000012.12:g.71699038C>T	TOPMed
TMEM19	Q96HH6	p.Gly261Ser	rs981309598	missense variant	-	NC_000012.12:g.71699043G>A	TOPMed,gnomAD
TMEM19	Q96HH6	p.Gly262Ser	rs928482331	missense variant	-	NC_000012.12:g.71699046G>A	TOPMed,gnomAD
TMEM19	Q96HH6	p.Leu263Phe	rs761825307	missense variant	-	NC_000012.12:g.71699051A>T	ExAC,TOPMed
TMEM19	Q96HH6	p.Ala264Val	COSM3465044	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71699053C>T	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Leu267Val	rs1415968924	missense variant	-	NC_000012.12:g.71699061C>G	TOPMed,gnomAD
TMEM19	Q96HH6	p.Gly268Val	rs138665801	missense variant	-	NC_000012.12:g.71699065G>T	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Gly268Glu	rs138665801	missense variant	-	NC_000012.12:g.71699065G>A	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ser269Ala	rs762614686	missense variant	-	NC_000012.12:g.71699067T>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Ser269Leu	rs766110355	missense variant	-	NC_000012.12:g.71699068C>T	ExAC
TMEM19	Q96HH6	p.Ile270Thr	rs1460512145	missense variant	-	NC_000012.12:g.71699071T>C	gnomAD
TMEM19	Q96HH6	p.Tyr274Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71699083A>G	NCI-TCGA
TMEM19	Q96HH6	p.Leu275Val	rs145012054	missense variant	-	NC_000012.12:g.71699085T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Leu275Phe	rs767935395	missense variant	-	NC_000012.12:g.71699087A>C	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Thr278Ala	rs373495464	missense variant	-	NC_000012.12:g.71699094A>G	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Met279Ile	rs538591255	missense variant	-	NC_000012.12:g.71699099G>T	1000Genomes
TMEM19	Q96HH6	p.Met279Val	rs1218821427	missense variant	-	NC_000012.12:g.71699097A>G	gnomAD
TMEM19	Q96HH6	p.Met279Lys	rs1279666929	missense variant	-	NC_000012.12:g.71699098T>A	gnomAD
TMEM19	Q96HH6	p.Gln280Arg	rs1226052251	missense variant	-	NC_000012.12:g.71699101A>G	gnomAD
TMEM19	Q96HH6	p.Gln280Ter	rs149102312	stop gained	-	NC_000012.12:g.71699100C>T	1000Genomes,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Tyr281Ser	rs377656372	missense variant	-	NC_000012.12:g.71699104A>C	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Tyr281Cys	rs377656372	missense variant	-	NC_000012.12:g.71699104A>G	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Gly283Trp	rs568765314	missense variant	-	NC_000012.12:g.71699109G>T	1000Genomes,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Asp285Gly	rs370300343	missense variant	-	NC_000012.12:g.71700838A>G	ESP,ExAC,gnomAD
TMEM19	Q96HH6	p.Asp285Val	rs370300343	missense variant	-	NC_000012.12:g.71700838A>T	ESP,ExAC,gnomAD
TMEM19	Q96HH6	p.Thr288Ser	rs74104122	missense variant	-	NC_000012.12:g.71700847C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Thr288Ala	rs770496129	missense variant	-	NC_000012.12:g.71700846A>G	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Met290Val	rs1241345258	missense variant	-	NC_000012.12:g.71700852A>G	gnomAD
TMEM19	Q96HH6	p.Met290Ile	rs759021811	missense variant	-	NC_000012.12:g.71700854G>A	ExAC,gnomAD
TMEM19	Q96HH6	p.Val291Met	rs771729947	missense variant	-	NC_000012.12:g.71700855G>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Asn293Ser	rs574587435	missense variant	-	NC_000012.12:g.71700862A>G	1000Genomes,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Asn293Lys	rs145613828	missense variant	-	NC_000012.12:g.71700863C>G	1000Genomes,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ser294Asn	rs1489543659	missense variant	-	NC_000012.12:g.71700865G>A	gnomAD
TMEM19	Q96HH6	p.Asn297Lys	rs754288021	missense variant	-	NC_000012.12:g.71700875T>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Asn297Ser	rs764462361	missense variant	-	NC_000012.12:g.71700874A>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Arg300Ser	rs762313903	missense variant	-	NC_000012.12:g.71700884G>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Arg300Met	COSM943279	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71700883G>T	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Ile302Met	rs750503174	missense variant	-	NC_000012.12:g.71700890A>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Ala303Thr	rs1399872547	missense variant	-	NC_000012.12:g.71700891G>A	TOPMed,gnomAD
TMEM19	Q96HH6	p.Gly304Val	rs994397588	missense variant	-	NC_000012.12:g.71700895G>T	TOPMed,gnomAD
TMEM19	Q96HH6	p.Gly304Glu	rs994397588	missense variant	-	NC_000012.12:g.71700895G>A	TOPMed,gnomAD
TMEM19	Q96HH6	p.Ile307Val	rs766596138	missense variant	-	NC_000012.12:g.71700903A>G	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ile307Thr	rs751763464	missense variant	-	NC_000012.12:g.71700904T>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Asp309Val	rs138000835	missense variant	-	NC_000012.12:g.71700910A>T	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Asp309Gly	rs138000835	missense variant	-	NC_000012.12:g.71700910A>G	ESP,ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Asn310Asp	rs201635907	missense variant	-	NC_000012.12:g.71700912A>G	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ala312Val	rs745351843	missense variant	-	NC_000012.12:g.71700919C>T	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Ala312Thr	rs778761272	missense variant	-	NC_000012.12:g.71700918G>A	ExAC,TOPMed,gnomAD
TMEM19	Q96HH6	p.Val313Ala	COSM3812959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71700922T>C	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Asn314Thr	rs771512857	missense variant	-	NC_000012.12:g.71700925A>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile321Thr	rs746676238	missense variant	-	NC_000012.12:g.71700946T>C	ExAC,gnomAD
TMEM19	Q96HH6	p.Ile321Met	rs1231088579	missense variant	-	NC_000012.12:g.71700947T>G	TOPMed,gnomAD
TMEM19	Q96HH6	p.Leu323Phe	rs768944655	missense variant	-	NC_000012.12:g.71700951C>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Leu323Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71700951C>A	NCI-TCGA
TMEM19	Q96HH6	p.Leu323Pro	rs1182164615	missense variant	-	NC_000012.12:g.71700952T>C	gnomAD
TMEM19	Q96HH6	p.Leu323Val	rs768944655	missense variant	-	NC_000012.12:g.71700951C>G	ExAC,gnomAD
TMEM19	Q96HH6	p.Ala329Ser	COSM6138141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71700969G>T	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Trp330Ter	rs1473993509	stop gained	-	NC_000012.12:g.71700974G>A	gnomAD
TMEM19	Q96HH6	p.Trp330Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.71700974G>T	NCI-TCGA
TMEM19	Q96HH6	p.Trp330Cys	rs1473993509	missense variant	-	NC_000012.12:g.71700974G>C	gnomAD
TMEM19	Q96HH6	p.Gly331Ser	rs545807734	missense variant	-	NC_000012.12:g.71700975G>A	1000Genomes,ExAC,gnomAD
TMEM19	Q96HH6	p.Trp333Cys	rs1353197055	missense variant	-	NC_000012.12:g.71700983G>T	gnomAD
TMEM19	Q96HH6	p.Trp333Leu	rs765752583	missense variant	-	NC_000012.12:g.71700982G>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Pro334Ser	rs1441946532	missense variant	-	NC_000012.12:g.71700984C>T	gnomAD
TMEM19	Q96HH6	p.Arg335Ser	rs773637464	missense variant	-	NC_000012.12:g.71700989G>T	ExAC,gnomAD
TMEM19	Q96HH6	p.Gly336Arg	rs1357632118	missense variant	-	NC_000012.12:g.71700990G>A	TOPMed,gnomAD
TMEM19	Q96HH6	p.Ter337GluPheSerTerUnk	COSM5051925	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71700988G>-	NCI-TCGA Cosmic
TMEM19	Q96HH6	p.Ter337Arg	rs766394824	stop lost	-	NC_000012.12:g.71700993T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro2Leu	COSM6136633	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42472512G>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Gln46His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42470354C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu55Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42470329C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Pro58Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42470320G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Glu65Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42470299C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Trp	COSM3772613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42470290G>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.Leu73Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42470273C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Leu76Ser	COSM939266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42470265A>G	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln87Leu	COSM693111	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42469574T>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu92Asp	COSM6136634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42469558C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln103Ter	COSM3460672	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42469527G>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ile114Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42469494T>G	NCI-TCGA
PRICKLE1	Q96MT3	p.Leu117Met	COSM284241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42469485G>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala124Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42469463G>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42468803T>G	NCI-TCGA
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Asp167Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42468715C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr170His	COSM6136635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42468706A>G	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Tyr172Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42468699T>G	NCI-TCGA
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Ile177Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42468683A>C	NCI-TCGA
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu185Gln	COSM693112	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42468661C>G	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Leu187His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42468654A>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg190Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42468646G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Val	COSM4876865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42466380T>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile198Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42466376A>C	NCI-TCGA
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42466323A>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly235Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42466265C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247Cys	COSM3368809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42466229T>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu249Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42466223T>C	NCI-TCGA
PRICKLE1	Q96MT3	p.Cys251Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42466217C>G	NCI-TCGA
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu256GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.42466202_42466203insC	NCI-TCGA
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Asp268Gly	COSM939263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42465231T>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Glu276Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42465208C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu288ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.42465171_42465172AA>-	NCI-TCGA
PRICKLE1	Q96MT3	p.Pro292Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42465159G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Leu294Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42465154G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Pro295Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42465151G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Gln299Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.42465139G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Gln299Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42465139G>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu310Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42465106C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp311His	COSM4919301	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42465103C>G	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala314Val	COSM3460671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42465093G>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser324Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42465063G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser327Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.42465054G>C	NCI-TCGA
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu356Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464967A>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Lys359Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464958T>C	NCI-TCGA
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Ser364Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464943G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp369Asn	COSM4041790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464929C>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Ser372Tyr	COSM3416836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464919G>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg373Leu	COSM693113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464916C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Lys374Arg	COSM4041789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464913T>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser379Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464898C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu391Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.42464863C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Gly395Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464851C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.His411Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464803G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464797C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Arg	COSM693114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464767C>G	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Asp436His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464728C>G	NCI-TCGA
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464690C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser451Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464682C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Ser451Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464681A>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464598C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala484Val	COSM258618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464583G>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.His504Asn	COSM284240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464524G>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His511Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464503G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln515Ter	COSM3986912	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42464491G>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu521Val	COSM4929784	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464473G>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Arg	COSM4041786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42464454A>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42464431C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Pro558Ser	COSM4041785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460633G>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Ser562Tyr	COSM1361557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460620G>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Gln564Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460615G>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu568Lys	COSM3460669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460603C>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Ser586Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460548G>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu588Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460543G>T	NCI-TCGA
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Met	COSM1361556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460536C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Arg590Ser	COSM1361555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460535C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ser591Cys	COSM3688199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460534T>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Glu593Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460527T>C	NCI-TCGA
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460517C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro609LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.42460481C>-	NCI-TCGA
PRICKLE1	Q96MT3	p.Glu610Ter	COSM3812000	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42460477C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro613Ser	COSM4041784	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460468G>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Asp644Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460374T>C	NCI-TCGA
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu646Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460369C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln649Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460359T>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg657Trp	COSM4150084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460336G>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Arg657Gln	COSM693115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460335C>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Arg659His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460329C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Glu665Ter	COSM415865	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42460312C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.His671Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460294G>C	NCI-TCGA
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Ile	COSM939260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460275C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser683Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460257G>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu689Ile	COSM284239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460240G>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg693Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460227C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys698Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460211C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu710Asp	COSM1361553	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460175C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Lys711Thr	COSM468339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460173T>G	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Phe712Cys	COSM939259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460170A>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ile713Val	COSM72286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460168T>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460160A>C	NCI-TCGA
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg719Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460149C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ile725Val	COSM6136637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460132T>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Ala728Asp	COSM1361551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460122G>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Ter	COSM3792580	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42460112G>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala735Thr	COSM4911580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460102C>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His736Asn	COSM1562115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42460099G>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly753Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42460047C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Asp771Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42459993T>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Glu775Asp	COSM3460667	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459980T>G	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Gly776Ter	COSM1322516	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.42459979C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Gly776Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42459978C>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Tyr777Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.42459974A>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Leu779GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.42459947_42459971GGGTTGAGGGATTGGTTGTCCAAGA>-	NCI-TCGA
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly780Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42459966C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro784His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42459954G>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg790Ile	COSM3416835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459936C>A	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro806His	COSM693117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459888G>T	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln812Arg	COSM1361550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459870T>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Thr814Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42459864G>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Thr814Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42459865T>C	NCI-TCGA
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys816Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42459858T>A	NCI-TCGA
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Asn	COSM431093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459845T>G	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.42459841C>T	NCI-TCGA
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
PRICKLE1	Q96MT3	p.Asn827Ser	COSM6136638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.42459825T>C	NCI-TCGA Cosmic
PRICKLE1	Q96MT3	p.Asn827IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.42459825T>-	NCI-TCGA
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu3Ter	RCV000188752	frameshift	-	NC_000012.12:g.42472511del	ClinVar
PRICKLE1	Q96MT3	p.Glu4Lys	rs762525821	missense variant	-	NC_000012.12:g.42472507C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu6Ala	rs1277312943	missense variant	-	NC_000012.12:g.42472500T>G	gnomAD
PRICKLE1	Q96MT3	p.Pro7Arg	rs1184318847	missense variant	-	NC_000012.12:g.42472497G>C	TOPMed
PRICKLE1	Q96MT3	p.Pro7Ser	rs1448904062	missense variant	-	NC_000012.12:g.42472498G>A	TOPMed
PRICKLE1	Q96MT3	p.Met9Val	rs566073131	missense variant	-	NC_000012.12:g.42472492T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met9Val	RCV000188733	missense variant	-	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Met9Val	RCV000646044	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472492T>C	ClinVar
PRICKLE1	Q96MT3	p.Ser10Asn	rs1309411802	missense variant	-	NC_000012.12:g.42472488C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu12Met	rs752821879	missense variant	-	NC_000012.12:g.42472483G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Ser	rs770828628	missense variant	-	NC_000012.12:g.42472480C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala13Thr	rs770828628	missense variant	-	NC_000012.12:g.42472480C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly15Ser	rs1258793726	missense variant	-	NC_000012.12:g.42472474C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	rs746768839	missense variant	-	NC_000012.12:g.42472470C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys16Tyr	RCV000233986	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472470C>T	ClinVar
PRICKLE1	Q96MT3	p.Gln17Pro	rs771838146	missense variant	-	NC_000012.12:g.42472467T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser19Asn	rs1452679799	missense variant	-	NC_000012.12:g.42472461C>T	TOPMed
PRICKLE1	Q96MT3	p.Thr21Ala	rs780328472	missense variant	-	NC_000012.12:g.42472456T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp24Glu	RCV000694485	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42472445A>C	ClinVar
PRICKLE1	Q96MT3	p.Gly27Ser	rs1254259436	missense variant	-	NC_000012.12:g.42472438C>T	gnomAD
PRICKLE1	Q96MT3	p.Leu30Ser	rs1197477093	missense variant	-	NC_000012.12:g.42472428A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr33His	rs1244431519	missense variant	-	NC_000012.12:g.42472420A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala34Thr	rs781255236	missense variant	-	NC_000012.12:g.42472417C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	rs139176541	missense variant	-	NC_000012.12:g.42472416G>A	ESP,gnomAD
PRICKLE1	Q96MT3	p.Ala34Ser	rs781255236	missense variant	-	NC_000012.12:g.42472417C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala34Val	RCV000480478	missense variant	-	NC_000012.12:g.42472416G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala34Thr	RCV000656032	missense variant	Rolandic epilepsy	NC_000012.12:g.42472417C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro38Leu	RCV000188734	missense variant	-	NC_000012.12:g.42472404G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro38Leu	rs145493619	missense variant	-	NC_000012.12:g.42472404G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro38Arg	rs145493619	missense variant	-	NC_000012.12:g.42472404G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly39Arg	rs1329186728	missense variant	-	NC_000012.12:g.42472402C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu40Gln	rs1289872571	missense variant	-	NC_000012.12:g.42472398A>T	gnomAD
PRICKLE1	Q96MT3	p.Pro42Leu	rs753183614	missense variant	-	NC_000012.12:g.42472392G>A	ExAC
PRICKLE1	Q96MT3	p.Pro42Ser	rs758787019	missense variant	-	NC_000012.12:g.42472393G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu43Gln	rs1366445021	missense variant	-	NC_000012.12:g.42472390C>G	gnomAD
PRICKLE1	Q96MT3	p.Leu47Ter	RCV000529906	frameshift	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42470353del	ClinVar
PRICKLE1	Q96MT3	p.Tyr48Cys	rs1311319381	missense variant	-	NC_000012.12:g.42470349T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala50Thr	rs745883137	missense variant	-	NC_000012.12:g.42470344C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala50Pro	rs745883137	missense variant	-	NC_000012.12:g.42470344C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys51Arg	rs781477633	missense variant	-	NC_000012.12:g.42470341A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu54Gly	rs747418341	missense variant	-	NC_000012.12:g.42470331T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val57Phe	rs1436512644	missense variant	-	NC_000012.12:g.42470323C>A	gnomAD
PRICKLE1	Q96MT3	p.Val60Ile	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val60Leu	rs1359965296	missense variant	-	NC_000012.12:g.42470314C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn61Asp	rs779382629	missense variant	-	NC_000012.12:g.42470311T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn61Ser	rs754498750	missense variant	-	NC_000012.12:g.42470310T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser62Gly	rs140262447	missense variant	-	NC_000012.12:g.42470308T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Leu	rs760293523	missense variant	-	NC_000012.12:g.42470304G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro63Ser	rs1450074684	missense variant	-	NC_000012.12:g.42470305G>A	gnomAD
PRICKLE1	Q96MT3	p.Gly64Arg	rs767281272	missense variant	-	NC_000012.12:g.42470302C>T	ExAC,TOPMed
PRICKLE1	Q96MT3	p.His67Arg	rs761685361	missense variant	-	NC_000012.12:g.42470292T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg68Gln	rs774440655	missense variant	-	NC_000012.12:g.42470289C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile69Thr	rs141795695	missense variant	-	NC_000012.12:g.42470286A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Ile69Thr	VAR_066850	missense variant	-	NC_000012.12:g.42470286A>G	UniProt
PRICKLE1	Q96MT3	p.Lys70Gln	rs759716073	missense variant	-	NC_000012.12:g.42470284T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu72Val	rs925234164	missense variant	-	NC_000012.12:g.42470278G>C	gnomAD
PRICKLE1	Q96MT3	p.His79Arg	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His79Leu	rs1402955748	missense variant	-	NC_000012.12:g.42470256T>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp80Val	rs1166524580	missense variant	-	NC_000012.12:g.42470253T>A	gnomAD
PRICKLE1	Q96MT3	p.Asn81His	rs796052934	missense variant	-	NC_000012.12:g.42470251T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val83Ile	rs764145941	missense variant	-	NC_000012.12:g.42469587C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg84Gln	rs766439768	missense variant	-	NC_000012.12:g.42469583C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg84Trp	rs775472022	missense variant	-	NC_000012.12:g.42469584G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu89Ter	rs868235074	stop gained	-	NC_000012.12:g.42469568A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu89Ser	rs868235074	missense variant	-	NC_000012.12:g.42469568A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser90Asn	rs1208843941	missense variant	-	NC_000012.12:g.42469565C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu93Gly	rs760798462	missense variant	-	NC_000012.12:g.42469556T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val99Leu	rs773322867	missense variant	-	NC_000012.12:g.42469539C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	rs113994140	missense variant	-	NC_000012.12:g.42469523C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Trp	rs772217655	missense variant	-	NC_000012.12:g.42469524G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg104Gln	RCV000431708	missense variant	-	NC_000012.12:g.42469523C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu107Ala	rs201983132	missense variant	-	NC_000012.12:g.42469514T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala108Thr	rs749826585	missense variant	-	NC_000012.12:g.42469512C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile114Thr	rs1328518516	missense variant	-	NC_000012.12:g.42469493A>G	gnomAD
PRICKLE1	Q96MT3	p.Ser118Thr	rs755590703	missense variant	-	NC_000012.12:g.42469482A>T	ExAC
PRICKLE1	Q96MT3	p.Arg119Thr	rs961991320	missense variant	-	NC_000012.12:g.42469478C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Val121Ile	VAR_066852	missense variant	-	NC_000012.12:g.42469473C>T	UniProt
PRICKLE1	Q96MT3	p.Val121Ile	rs371720624	missense variant	-	NC_000012.12:g.42469473C>T	gnomAD
PRICKLE1	Q96MT3	p.Val121Gly	rs1189848927	missense variant	-	NC_000012.12:g.42469472A>C	TOPMed
PRICKLE1	Q96MT3	p.Val121Leu	rs371720624	missense variant	-	NC_000012.12:g.42469473C>G	gnomAD
PRICKLE1	Q96MT3	p.Met122Ile	rs745306550	missense variant	-	NC_000012.12:g.42469468C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met122Val	rs1343849513	missense variant	-	NC_000012.12:g.42469470T>C	gnomAD
PRICKLE1	Q96MT3	p.His123Pro	rs1415980204	missense variant	-	NC_000012.12:g.42469466T>G	TOPMed
PRICKLE1	Q96MT3	p.Ala124Thr	rs79087668	missense variant	-	NC_000012.12:g.42469464C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala124Thr	RCV000656031	missense variant	Rolandic epilepsy	NC_000012.12:g.42469464C>T	ClinVar
PRICKLE1	Q96MT3	p.Val125Ala	rs34837068	missense variant	-	NC_000012.12:g.42469460A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val125Ala	RCV000400769	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42469460A>G	ClinVar
PRICKLE1	Q96MT3	p.Val125Met	rs756916881	missense variant	-	NC_000012.12:g.42469461C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu127Lys	rs1455206397	missense variant	-	NC_000012.12:g.42469455C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly130Val	rs1473902641	missense variant	-	NC_000012.12:g.42468825C>A	TOPMed
PRICKLE1	Q96MT3	p.Leu131Val	rs35731866	missense variant	-	NC_000012.12:g.42468823A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu131Val	RCV000188726	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000718412	missense variant	-	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Leu131Val	RCV000525462	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468823A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn134His	rs200558941	missense variant	-	NC_000012.12:g.42468814T>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn134His	RCV000540316	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468814T>G	ClinVar
PRICKLE1	Q96MT3	p.Gly136Arg	rs773739764	missense variant	-	NC_000012.12:g.42468808C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly136Ser	rs773739764	missense variant	-	NC_000012.12:g.42468808C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu137Ala	rs533095698	missense variant	-	NC_000012.12:g.42468804T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe141Cys	rs564918219	missense variant	-	NC_000012.12:g.42468792A>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala142Val	rs796052928	missense variant	-	NC_000012.12:g.42468789G>A	-
PRICKLE1	Q96MT3	p.Ala142Thr	rs1060502984	missense variant	-	NC_000012.12:g.42468790C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala142Thr	RCV000460208	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468790C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala142Val	RCV000188736	missense variant	-	NC_000012.12:g.42468789G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser143Phe	rs758143303	missense variant	-	NC_000012.12:g.42468786G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	-	NC_000012.12:g.42468783C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg144His	rs281865563	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg144His	VAR_065580	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42468783C>T	UniProt
PRICKLE1	Q96MT3	p.Arg144Cys	rs1284958285	missense variant	-	NC_000012.12:g.42468784G>A	TOPMed
PRICKLE1	Q96MT3	p.Arg144His	RCV000188738	missense variant	-	NC_000012.12:g.42468783C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	rs765119777	missense variant	-	NC_000012.12:g.42468780G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala145Val	RCV000179021	missense variant	-	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala145Val	RCV000475800	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468780G>A	ClinVar
PRICKLE1	Q96MT3	p.Gly146Ser	rs753753811	missense variant	-	NC_000012.12:g.42468778C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly146Val	rs767649857	missense variant	-	NC_000012.12:g.42468777C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val149Met	rs751791144	missense variant	-	NC_000012.12:g.42468769C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val149Ala	rs528557291	missense variant	-	NC_000012.12:g.42468768A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys150Arg	RCV000687860	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42468766A>G	ClinVar
PRICKLE1	Q96MT3	p.Phe156Ser	rs775872848	missense variant	-	NC_000012.12:g.42468747A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val157Ile	rs770028506	missense variant	-	NC_000012.12:g.42468745C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe159Tyr	rs1471867585	missense variant	-	NC_000012.12:g.42468738A>T	gnomAD
PRICKLE1	Q96MT3	p.Phe159Val	rs1191001127	missense variant	-	NC_000012.12:g.42468739A>C	gnomAD
PRICKLE1	Q96MT3	p.Thr160Met	rs777277493	missense variant	-	NC_000012.12:g.42468735G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr160Ala	rs1237014773	missense variant	-	NC_000012.12:g.42468736T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu164Pro	rs777575981	missense variant	-	NC_000012.12:g.42468723A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu164Val	rs746462801	missense variant	-	NC_000012.12:g.42468724G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val166Phe	rs1158812381	missense variant	-	NC_000012.12:g.42468718C>A	gnomAD
PRICKLE1	Q96MT3	p.Ile169Thr	rs1341137672	missense variant	-	NC_000012.12:g.42468708A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr170Cys	rs771717707	missense variant	-	NC_000012.12:g.42468705T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln173Glu	rs747920863	missense variant	-	NC_000012.12:g.42468697G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp174Tyr	rs1160750296	missense variant	-	NC_000012.12:g.42468694C>A	TOPMed
PRICKLE1	Q96MT3	p.Asp174Gly	rs778817395	missense variant	-	NC_000012.12:g.42468693T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly180Val	rs754699794	missense variant	-	NC_000012.12:g.42468675C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro189Leu	rs751596896	missense variant	-	NC_000012.12:g.42468648G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg190Gln	rs1455993779	missense variant	-	NC_000012.12:g.42468645C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys191Tyr	rs1313880146	missense variant	-	NC_000012.12:g.42468642C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu196Lys	rs759969939	missense variant	-	NC_000012.12:g.42468628C>T	ExAC
PRICKLE1	Q96MT3	p.Ile197Thr	rs542029566	missense variant	-	NC_000012.12:g.42466379A>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp201Val	rs1434685000	missense variant	-	NC_000012.12:g.42466367T>A	gnomAD
PRICKLE1	Q96MT3	p.Asp201Asn	rs1300341380	missense variant	-	NC_000012.12:g.42466368C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu202Lys	rs1486749442	missense variant	-	NC_000012.12:g.42466365C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr204Ala	rs1324733484	missense variant	-	NC_000012.12:g.42466359T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu207Asp	rs1489278936	missense variant	-	NC_000012.12:g.42466348C>G	TOPMed
PRICKLE1	Q96MT3	p.Arg209Ser	rs777944504	missense variant	-	NC_000012.12:g.42466344G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209His	rs758400992	missense variant	-	NC_000012.12:g.42466343C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	rs777944504	missense variant	-	NC_000012.12:g.42466344G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg209Cys	RCV000538936	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466344G>A	ClinVar
PRICKLE1	Q96MT3	p.Met213Ile	rs1424291875	missense variant	-	NC_000012.12:g.42466330C>T	TOPMed
PRICKLE1	Q96MT3	p.Met213Leu	rs765322400	missense variant	-	NC_000012.12:g.42466332T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys214Thr	rs1178731670	missense variant	-	NC_000012.12:g.42466328T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His215Tyr	rs1246075272	missense variant	-	NC_000012.12:g.42466326G>A	gnomAD
PRICKLE1	Q96MT3	p.Phe216Leu	rs1366452897	missense variant	-	NC_000012.12:g.42466321G>C	TOPMed
PRICKLE1	Q96MT3	p.Cys217Arg	rs772276749	missense variant	-	NC_000012.12:g.42466320A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys217Arg	RCV000398777	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466320A>G	ClinVar
PRICKLE1	Q96MT3	p.Leu219Pro	rs1469737110	missense variant	-	NC_000012.12:g.42466313A>G	gnomAD
PRICKLE1	Q96MT3	p.Glu220Lys	rs200263143	missense variant	-	NC_000012.12:g.42466311C>T	1000Genomes
PRICKLE1	Q96MT3	p.Thr223Met	RCV000646041	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr223Met	rs754218148	missense variant	-	NC_000012.12:g.42466301G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr223Met	RCV000712848	missense variant	-	NC_000012.12:g.42466301G>A	ClinVar
PRICKLE1	Q96MT3	p.Val224Ile	rs1016727048	missense variant	-	NC_000012.12:g.42466299C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg229Met	rs1308626806	missense variant	-	NC_000012.12:g.42466283C>A	gnomAD
PRICKLE1	Q96MT3	p.Tyr230Cys	rs773561952	missense variant	-	NC_000012.12:g.42466280T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000814211	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Lys233Asn	rs1443820017	missense variant	-	NC_000012.12:g.42466270C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys233Asn	RCV000716774	missense variant	-	NC_000012.12:g.42466270C>A	ClinVar
PRICKLE1	Q96MT3	p.Gly235Ser	rs375197568	missense variant	-	NC_000012.12:g.42466266C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly235Ser	RCV000597357	missense variant	-	NC_000012.12:g.42466266C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg236His	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Leu	rs1457774536	missense variant	-	NC_000012.12:g.42466262C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg236Cys	rs372213429	missense variant	-	NC_000012.12:g.42466263G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Phe238Ser	rs796052930	missense variant	-	NC_000012.12:g.42466256A>G	-
PRICKLE1	Q96MT3	p.Phe238Ser	RCV000188739	missense variant	-	NC_000012.12:g.42466256A>G	ClinVar
PRICKLE1	Q96MT3	p.Cys240Arg	rs774058029	missense variant	-	NC_000012.12:g.42466251A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys242Trp	rs74918611	missense variant	-	NC_000012.12:g.42466243A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Ter	rs775310173	stop gained	-	NC_000012.12:g.42466239C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu244Val	rs769543803	missense variant	-	NC_000012.12:g.42466238T>A	ExAC
PRICKLE1	Q96MT3	p.Ser245Thr	rs997832538	missense variant	-	NC_000012.12:g.42466236A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu246Ile	rs745880716	missense variant	-	NC_000012.12:g.42466233G>T	ExAC
PRICKLE1	Q96MT3	p.Tyr247His	rs780974681	missense variant	-	NC_000012.12:g.42466230A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala248Val	RCV000704334	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42466226G>A	ClinVar
PRICKLE1	Q96MT3	p.Glu249Gln	rs1214766355	missense variant	-	NC_000012.12:g.42466224C>G	TOPMed
PRICKLE1	Q96MT3	p.Glu249Asp	rs1187409481	missense variant	-	NC_000012.12:g.42466222C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr253Asn	rs779229187	missense variant	-	NC_000012.12:g.42466211G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His257Arg	rs755578011	missense variant	-	NC_000012.12:g.42466199T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly259Asp	rs1555230194	missense variant	-	NC_000012.12:g.42465258C>T	-
PRICKLE1	Q96MT3	p.Gly259Asp	RCV000553848	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465258C>T	ClinVar
PRICKLE1	Q96MT3	p.Val260Met	rs1199665357	missense variant	-	NC_000012.12:g.42465256C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His262Tyr	rs1478748901	missense variant	-	NC_000012.12:g.42465250G>A	TOPMed
PRICKLE1	Q96MT3	p.Ala263Thr	rs775135171	missense variant	-	NC_000012.12:g.42465247C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr266Ser	rs1380187131	missense variant	-	NC_000012.12:g.42465238T>A	gnomAD
PRICKLE1	Q96MT3	p.Gly269Arg	rs376845777	missense variant	-	NC_000012.12:g.42465229C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln270Lys	RCV000594518	missense variant	-	NC_000012.12:g.42465226G>T	ClinVar
PRICKLE1	Q96MT3	p.Gln270Lys	rs752070986	missense variant	-	NC_000012.12:g.42465226G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp272Arg	rs1462485485	missense variant	-	NC_000012.12:g.42465220A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala274Thr	rs762434475	missense variant	-	NC_000012.12:g.42465214C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	RCV000157058	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr275Met	rs559947948	missense variant	-	NC_000012.12:g.42465210G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Thr275Met	VAR_066854	missense variant	-	NC_000012.12:g.42465210G>A	UniProt
PRICKLE1	Q96MT3	p.Thr275Met	RCV000725886	missense variant	-	NC_000012.12:g.42465210G>A	ClinVar
PRICKLE1	Q96MT3	p.Cys281Tyr	rs1418147287	missense variant	-	NC_000012.12:g.42465192C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys284Arg	rs764805797	missense variant	-	NC_000012.12:g.42465184A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Arg	rs759409673	missense variant	-	NC_000012.12:g.42465180T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys285Gln	rs1555230175	missense variant	-	NC_000012.12:g.42465181T>G	-
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000519556	missense variant	-	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys285Gln	RCV000792650	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465181T>G	ClinVar
PRICKLE1	Q96MT3	p.Ala286Asp	rs1361958779	missense variant	-	NC_000012.12:g.42465177G>T	TOPMed
PRICKLE1	Q96MT3	p.Ala286Val	RCV000720524	missense variant	-	NC_000012.12:g.42465177G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser287Thr	rs1251610168	missense variant	-	NC_000012.12:g.42465175A>T	gnomAD
PRICKLE1	Q96MT3	p.Lys296Glu	rs770740860	missense variant	-	NC_000012.12:g.42465148T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln297Glu	rs1335506558	missense variant	-	NC_000012.12:g.42465145G>C	gnomAD
PRICKLE1	Q96MT3	p.Lys304Glu	RCV000188740	missense variant	-	NC_000012.12:g.42465124T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys304Glu	rs202205425	missense variant	-	NC_000012.12:g.42465124T>C	-
PRICKLE1	Q96MT3	p.Thr305Met	rs375459191	missense variant	-	NC_000012.12:g.42465120G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys306Tyr	rs768917442	missense variant	-	NC_000012.12:g.42465117C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser307Asn	RCV000371660	missense variant	-	NC_000012.12:g.42465114C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser307Asn	rs886043436	missense variant	-	NC_000012.12:g.42465114C>T	-
PRICKLE1	Q96MT3	p.Leu308Phe	rs1391694451	missense variant	-	NC_000012.12:g.42465112G>A	gnomAD
PRICKLE1	Q96MT3	p.Asp311Glu	rs1291662022	missense variant	-	NC_000012.12:g.42465101G>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp311Asn	rs1245579936	missense variant	-	NC_000012.12:g.42465103C>T	TOPMed
PRICKLE1	Q96MT3	p.Val312Ile	rs780452958	missense variant	-	NC_000012.12:g.42465100C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His313Arg	rs932674648	missense variant	-	NC_000012.12:g.42465096T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His313Pro	rs932674648	missense variant	-	NC_000012.12:g.42465096T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser315Cys	rs769860194	missense variant	-	NC_000012.12:g.42465090G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser318Pro	rs1203241244	missense variant	-	NC_000012.12:g.42465082A>G	TOPMed
PRICKLE1	Q96MT3	p.Phe322Ser	rs1410763509	missense variant	-	NC_000012.12:g.42465069A>G	gnomAD
PRICKLE1	Q96MT3	p.Ala325Pro	rs757632765	missense variant	-	NC_000012.12:g.42465061C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg326Gln	rs752116352	missense variant	-	NC_000012.12:g.42465057C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp329Gly	rs1046367995	missense variant	-	NC_000012.12:g.42465048T>C	-
PRICKLE1	Q96MT3	p.Arg331Gln	rs778192552	missense variant	-	NC_000012.12:g.42465042C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg331Gln	RCV000462752	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465042C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg335Gln	rs757911190	missense variant	-	NC_000012.12:g.42465030C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg335Gln	RCV000531254	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42465030C>T	ClinVar
PRICKLE1	Q96MT3	p.Met336Arg	rs76029235	missense variant	-	NC_000012.12:g.42465027A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met336Thr	rs76029235	missense variant	-	NC_000012.12:g.42465027A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys338Glu	rs1328763941	missense variant	-	NC_000012.12:g.42465022T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser339Asn	rs764895755	missense variant	-	NC_000012.12:g.42465018C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Trp	rs759164554	missense variant	-	NC_000012.12:g.42465013G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg341Gln	rs577174749	missense variant	-	NC_000012.12:g.42465012C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser342Ala	rs773297758	missense variant	-	NC_000012.12:g.42465010A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp344Glu	rs1395109384	missense variant	-	NC_000012.12:g.42465002A>C	gnomAD
PRICKLE1	Q96MT3	p.Gln345Arg	rs1397193014	missense variant	-	NC_000012.12:g.42465000T>C	TOPMed
PRICKLE1	Q96MT3	p.Cys346Arg	rs772094351	missense variant	-	NC_000012.12:g.42464998A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser349Pro	rs1455123053	missense variant	-	NC_000012.12:g.42464989A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Leu	rs1454994864	missense variant	-	NC_000012.12:g.42464976G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser353Pro	rs775761309	missense variant	-	NC_000012.12:g.42464977A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr358Asp	rs886049376	missense variant	-	NC_000012.12:g.42464962A>C	-
PRICKLE1	Q96MT3	p.Tyr358Asp	RCV000397049	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464962A>C	ClinVar
PRICKLE1	Q96MT3	p.Lys359Asn	rs1236954949	missense variant	-	NC_000012.12:g.42464957C>G	TOPMed
PRICKLE1	Q96MT3	p.Pro361Ala	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro361Ser	rs1198581280	missense variant	-	NC_000012.12:g.42464953G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu363Phe	rs1260285480	missense variant	-	NC_000012.12:g.42464947G>A	TOPMed
PRICKLE1	Q96MT3	p.Asn366Ser	rs771210638	missense variant	-	NC_000012.12:g.42464937T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp368Gly	rs747305137	missense variant	-	NC_000012.12:g.42464931T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr370Asn	rs778286825	missense variant	-	NC_000012.12:g.42464925G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu371Val	rs1343106235	missense variant	-	NC_000012.12:g.42464923G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	rs1254082305	missense variant	-	NC_000012.12:g.42464916C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg373Gln	RCV000720603	missense variant	-	NC_000012.12:g.42464916C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu375Ser	rs1239638305	missense variant	-	NC_000012.12:g.42464910A>G	TOPMed
PRICKLE1	Q96MT3	p.Asp376Gly	rs1259483653	missense variant	-	NC_000012.12:g.42464907T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu378Met	rs977985870	missense variant	-	NC_000012.12:g.42464902G>T	TOPMed
PRICKLE1	Q96MT3	p.Ser379Cys	rs758856895	missense variant	-	NC_000012.12:g.42464899T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000800273	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000712844	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg382Ser	rs778330311	missense variant	-	NC_000012.12:g.42464888T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	rs748636455	missense variant	-	NC_000012.12:g.42464889C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg382Lys	RCV000188741	missense variant	-	NC_000012.12:g.42464889C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser386Cys	rs754507423	missense variant	-	NC_000012.12:g.42464878T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser389Gly	rs1466958238	missense variant	-	NC_000012.12:g.42464869T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu390Lys	rs1179243084	missense variant	-	NC_000012.12:g.42464866C>T	TOPMed
PRICKLE1	Q96MT3	p.Glu400Gln	rs796052931	missense variant	-	NC_000012.12:g.42464836C>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu400Gln	RCV000188742	missense variant	-	NC_000012.12:g.42464836C>G	ClinVar
PRICKLE1	Q96MT3	p.Thr401Ile	rs766000495	missense variant	-	NC_000012.12:g.42464832G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro402Leu	rs755979431	missense variant	-	NC_000012.12:g.42464829G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu403Gly	rs367941464	missense variant	-	NC_000012.12:g.42464826T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	rs376384105	missense variant	-	NC_000012.12:g.42464812A>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000698134	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Gly	rs376384105	missense variant	-	NC_000012.12:g.42464812A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000720205	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp408Arg	RCV000731193	missense variant	-	NC_000012.12:g.42464812A>G	ClinVar
PRICKLE1	Q96MT3	p.Ala409Thr	rs774422189	missense variant	-	NC_000012.12:g.42464809C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala409Thr	RCV000339156	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464809C>T	ClinVar
PRICKLE1	Q96MT3	p.His411Asp	rs1389927918	missense variant	-	NC_000012.12:g.42464803G>C	TOPMed
PRICKLE1	Q96MT3	p.His411Arg	rs1449357649	missense variant	-	NC_000012.12:g.42464802T>C	gnomAD
PRICKLE1	Q96MT3	p.Glu412Lys	rs765287368	missense variant	-	NC_000012.12:g.42464800C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp413Val	rs759600108	missense variant	-	NC_000012.12:g.42464796T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	rs776720321	missense variant	-	NC_000012.12:g.42464791T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met415Val	RCV000720427	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Met415Val	RCV000479983	missense variant	-	NC_000012.12:g.42464791T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr416Met	rs151332996	missense variant	-	NC_000012.12:g.42464787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr416Met	RCV000545733	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464787G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu418His	rs1348264193	missense variant	-	NC_000012.12:g.42464781A>T	gnomAD
PRICKLE1	Q96MT3	p.Leu419Phe	rs1261183051	missense variant	-	NC_000012.12:g.42464779G>A	TOPMed
PRICKLE1	Q96MT3	p.Gly423Cys	rs773620209	missense variant	-	NC_000012.12:g.42464767C>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly423Asp	rs371689139	missense variant	-	NC_000012.12:g.42464766C>T	ESP,TOPMed
PRICKLE1	Q96MT3	p.Gly423Ala	rs371689139	missense variant	-	NC_000012.12:g.42464766C>G	ESP,TOPMed
PRICKLE1	Q96MT3	p.Ser426Gly	rs1199026839	missense variant	-	NC_000012.12:g.42464758T>C	TOPMed
PRICKLE1	Q96MT3	p.Leu427Val	rs553919252	missense variant	-	NC_000012.12:g.42464755G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu427Phe	rs553919252	missense variant	-	NC_000012.12:g.42464755G>A	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe428Leu	rs779462876	missense variant	-	NC_000012.12:g.42464752A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro430Ser	rs1311851345	missense variant	-	NC_000012.12:g.42464746G>A	gnomAD
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>C	ExAC
PRICKLE1	Q96MT3	p.Asn433Ser	rs748766846	missense variant	-	NC_000012.12:g.42464736T>C	ExAC,TOPMed
PRICKLE1	Q96MT3	p.Asn433Lys	RCV000457443	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464735A>C	ClinVar
PRICKLE1	Q96MT3	p.Asn433Lys	rs779594296	missense variant	-	NC_000012.12:g.42464735A>T	ExAC
PRICKLE1	Q96MT3	p.Ile437Phe	rs755877569	missense variant	-	NC_000012.12:g.42464725T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gly	rs750068527	missense variant	-	NC_000012.12:g.42464722G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg438Gln	rs1306531699	missense variant	-	NC_000012.12:g.42464721C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala439Thr	rs1409951498	missense variant	-	NC_000012.12:g.42464719C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser440Gly	RCV000733425	missense variant	-	NC_000012.12:g.42464716T>C	ClinVar
PRICKLE1	Q96MT3	p.His442Tyr	rs1420840004	missense variant	-	NC_000012.12:g.42464710G>A	gnomAD
PRICKLE1	Q96MT3	p.Trp443Arg	rs767486612	missense variant	-	NC_000012.12:g.42464707A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ile444Leu	rs146199468	missense variant	-	NC_000012.12:g.42464704T>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser445Thr	rs751460514	missense variant	-	NC_000012.12:g.42464701A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp446His	rs764022861	missense variant	-	NC_000012.12:g.42464698C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Leu	rs776727562	missense variant	-	NC_000012.12:g.42464692T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met448Thr	rs1295639236	missense variant	-	NC_000012.12:g.42464691A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val449Phe	rs766349772	missense variant	-	NC_000012.12:g.42464689C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys450Glu	rs1273563696	missense variant	-	NC_000012.12:g.42464686T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Asn	rs773422113	missense variant	-	NC_000012.12:g.42464676G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr453Ile	rs773422113	missense variant	-	NC_000012.12:g.42464676G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000560400	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu454Lys	rs748454609	missense variant	-	NC_000012.12:g.42464674C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu454Lys	RCV000188744	missense variant	-	NC_000012.12:g.42464674C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu455Ser	rs774727935	missense variant	-	NC_000012.12:g.42464670A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn458Asp	rs769168031	missense variant	-	NC_000012.12:g.42464662T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Arg	rs769424445	missense variant	-	NC_000012.12:g.42464644T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser464Asn	rs138568653	missense variant	-	NC_000012.12:g.42464643C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys465Glu	rs780931107	missense variant	-	NC_000012.12:g.42464641T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln468Arg	rs556311726	missense variant	-	NC_000012.12:g.42464631T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser469Cys	rs751326939	missense variant	-	NC_000012.12:g.42464628G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met471Thr	rs777597253	missense variant	-	NC_000012.12:g.42464622A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.MetTyr471IleHis	rs1060502985	missense variant	-	NC_000012.12:g.42464620_42464621delinsGA	-
PRICKLE1	Q96MT3	p.Met471IleHis	RCV000461836	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620_42464621delinsGA	ClinVar
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Tyr472His	VAR_065581	missense variant	Epilepsy, progressive myoclonic 1B (EPM1B)	NC_000012.12:g.42464620A>G	UniProt
PRICKLE1	Q96MT3	p.Tyr472His	rs281865564	missense variant	-	NC_000012.12:g.42464620A>G	-
PRICKLE1	Q96MT3	p.Tyr472His	RCV000023708	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464620A>G	ClinVar
PRICKLE1	Q96MT3	p.Trp473Arg	rs538066196	missense variant	-	NC_000012.12:g.42464617A>T	1000Genomes
PRICKLE1	Q96MT3	p.Gly479Arg	rs570770626	missense variant	-	NC_000012.12:g.42464599C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000180007	missense variant	-	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Gly479Arg	RCV000475911	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464599C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu480Val	rs552840971	missense variant	-	NC_000012.12:g.42464596G>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asp482Asn	rs1555229983	missense variant	-	NC_000012.12:g.42464590C>T	-
PRICKLE1	Q96MT3	p.Asp482Asn	RCV000519106	missense variant	-	NC_000012.12:g.42464590C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser483Phe	rs1041081826	missense variant	-	NC_000012.12:g.42464586G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser487Arg	rs116197349	missense variant	-	NC_000012.12:g.42464573G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser493Arg	rs547914367	missense variant	-	NC_000012.12:g.42464557T>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg496Ser	rs762118167	missense variant	-	NC_000012.12:g.42464546C>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Leu497Arg	rs1374457822	missense variant	-	NC_000012.12:g.42464544A>C	gnomAD
PRICKLE1	Q96MT3	p.Leu502Met	rs1203294388	missense variant	-	NC_000012.12:g.42464530G>T	TOPMed
PRICKLE1	Q96MT3	p.Leu502Arg	rs768870075	missense variant	-	NC_000012.12:g.42464529A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His504Arg	rs201054946	missense variant	-	NC_000012.12:g.42464523T>C	1000Genomes,ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Val	rs745306755	missense variant	-	NC_000012.12:g.42464517G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala506Thr	RCV000188746	missense variant	-	NC_000012.12:g.42464518C>T	ClinVar
PRICKLE1	Q96MT3	p.Ala506Thr	rs796052932	missense variant	-	NC_000012.12:g.42464518C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser507Leu	rs781019264	missense variant	-	NC_000012.12:g.42464514G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr514Ile	rs374333566	missense variant	-	NC_000012.12:g.42464493G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000467028	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000188747	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Trp516Gly	rs1178710587	missense variant	-	NC_000012.12:g.42464488A>C	gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	rs139901494	missense variant	-	NC_000012.12:g.42464487C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Trp516Ser	RCV000717833	missense variant	-	NC_000012.12:g.42464487C>G	ClinVar
PRICKLE1	Q96MT3	p.Ser520Phe	rs777667268	missense variant	-	NC_000012.12:g.42464475G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser520Cys	rs777667268	missense variant	-	NC_000012.12:g.42464475G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Cys523Arg	rs150121787	missense variant	-	NC_000012.12:g.42464467A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Cys523Tyr	rs1265886356	missense variant	-	NC_000012.12:g.42464466C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu527Gln	rs1472183837	missense variant	-	NC_000012.12:g.42464454A>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser532Asn	rs778765052	missense variant	-	NC_000012.12:g.42464439C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gly	rs936545109	missense variant	-	NC_000012.12:g.42464434G>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	rs756192425	missense variant	-	NC_000012.12:g.42464433C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Trp	rs936545109	missense variant	-	NC_000012.12:g.42464434G>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000692133	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Trp	RCV000544669	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464434G>A	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000281320	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg534Gln	RCV000724353	missense variant	-	NC_000012.12:g.42464433C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp535His	rs371146879	missense variant	-	NC_000012.12:g.42464431C>G	gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	rs150766064	missense variant	-	NC_000012.12:g.42464427G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser536Leu	RCV000560200	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464427G>A	ClinVar
PRICKLE1	Q96MT3	p.Met537Val	rs1437950772	missense variant	-	NC_000012.12:g.42464425T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Met537Val	RCV000696604	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464425T>C	ClinVar
PRICKLE1	Q96MT3	p.Asp538Tyr	rs751724595	missense variant	-	NC_000012.12:g.42464422C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp538Ala	rs764577468	missense variant	-	NC_000012.12:g.42464421T>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser539Pro	rs1431820148	missense variant	-	NC_000012.12:g.42464419A>G	gnomAD
PRICKLE1	Q96MT3	p.Leu540Ser	rs1290563630	missense variant	-	NC_000012.12:g.42464415A>G	TOPMed
PRICKLE1	Q96MT3	p.Ala541Thr	rs763169354	missense variant	-	NC_000012.12:g.42464413C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	rs763169354	missense variant	-	NC_000012.12:g.42464413C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala541Ser	RCV000533960	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42464413C>A	ClinVar
PRICKLE1	Q96MT3	p.Asn544His	rs1394426027	missense variant	-	NC_000012.12:g.42464404T>G	gnomAD
PRICKLE1	Q96MT3	p.Asn544Ser	rs1361111517	missense variant	-	NC_000012.12:g.42464403T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly547Glu	rs1428542328	missense variant	-	NC_000012.12:g.42460665C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala548Thr	rs1185406959	missense variant	-	NC_000012.12:g.42460663C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser549Leu	rs370892022	missense variant	-	NC_000012.12:g.42460659G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Val550Met	RCV000646039	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460657C>T	ClinVar
PRICKLE1	Q96MT3	p.Val550Met	rs760050261	missense variant	-	NC_000012.12:g.42460657C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly552Glu	rs1055556905	missense variant	-	NC_000012.12:g.42460650C>T	TOPMed
PRICKLE1	Q96MT3	p.Gly552Glu	RCV000559131	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460650C>T	ClinVar
PRICKLE1	Q96MT3	p.Asn554Asp	rs1251183992	missense variant	-	NC_000012.12:g.42460645T>C	gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000278259	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Ser559Leu	rs771584708	missense variant	-	NC_000012.12:g.42460629G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser559Leu	RCV000188748	missense variant	-	NC_000012.12:g.42460629G>A	ClinVar
PRICKLE1	Q96MT3	p.Leu560Phe	rs1310624941	missense variant	-	NC_000012.12:g.42460625C>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr561His	rs1232951000	missense variant	-	NC_000012.12:g.42460624A>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser562Cys	rs1314620146	missense variant	-	NC_000012.12:g.42460620G>C	TOPMed
PRICKLE1	Q96MT3	p.Leu563Pro	rs1002543932	missense variant	-	NC_000012.12:g.42460617A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn565Lys	rs747960166	missense variant	-	NC_000012.12:g.42460610A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr571Ile	rs192905881	missense variant	-	NC_000012.12:g.42460593G>A	1000Genomes
PRICKLE1	Q96MT3	p.Thr571Ala	rs774182139	missense variant	-	NC_000012.12:g.42460594T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn579Ser	rs1337094297	missense variant	-	NC_000012.12:g.42460569T>C	TOPMed
PRICKLE1	Q96MT3	p.Met580Thr	rs1236470134	missense variant	-	NC_000012.12:g.42460566A>G	TOPMed
PRICKLE1	Q96MT3	p.Met587Val	rs1462408455	missense variant	-	NC_000012.12:g.42460546T>C	gnomAD
PRICKLE1	Q96MT3	p.Leu588Val	rs1345086413	missense variant	-	NC_000012.12:g.42460543G>C	TOPMed
PRICKLE1	Q96MT3	p.His589Gln	rs1355828220	missense variant	-	NC_000012.12:g.42460538G>C	gnomAD
PRICKLE1	Q96MT3	p.Arg590Lys	rs747016163	missense variant	-	NC_000012.12:g.42460536C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg590Gly	rs757362404	missense variant	-	NC_000012.12:g.42460537T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser591Thr	rs778075325	missense variant	-	NC_000012.12:g.42460533C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu593Asp	rs890912439	missense variant	-	NC_000012.12:g.42460526C>A	TOPMed
PRICKLE1	Q96MT3	p.Ser594Tyr	rs758594837	missense variant	-	NC_000012.12:g.42460524G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys596Glu	rs752938677	missense variant	-	NC_000012.12:g.42460519T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser597Arg	rs765766362	missense variant	-	NC_000012.12:g.42460514A>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser600Leu	rs1051937466	missense variant	-	NC_000012.12:g.42460506G>A	gnomAD
PRICKLE1	Q96MT3	p.Leu602Val	rs368664984	missense variant	-	NC_000012.12:g.42460501A>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu605Lys	rs1271412192	missense variant	-	NC_000012.12:g.42460492C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Lys606Thr	rs754414301	missense variant	-	NC_000012.12:g.42460488T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile607Phe	rs766728682	missense variant	-	NC_000012.12:g.42460486T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu611Lys	rs1333808702	missense variant	-	NC_000012.12:g.42460474C>T	gnomAD
PRICKLE1	Q96MT3	p.Glu611Asp	rs749854195	missense variant	-	NC_000012.12:g.42460472C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.His615Gln	rs767033548	missense variant	-	NC_000012.12:g.42460460A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu619Pro	rs761518408	missense variant	-	NC_000012.12:g.42460449A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg620Thr	rs1460411446	missense variant	-	NC_000012.12:g.42460446C>G	gnomAD
PRICKLE1	Q96MT3	p.Arg621Lys	rs1394787819	missense variant	-	NC_000012.12:g.42460443C>T	gnomAD
PRICKLE1	Q96MT3	p.Ser622Pro	rs773978081	missense variant	-	NC_000012.12:g.42460441A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser622Tyr	rs768451748	missense variant	-	NC_000012.12:g.42460440G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Glu	rs762668703	missense variant	-	NC_000012.12:g.42460438T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys623Asn	rs150809651	missense variant	-	NC_000012.12:g.42460436C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	rs200171609	missense variant	-	NC_000012.12:g.42460417G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000375035	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Gln630Glu	RCV000188754	missense variant	-	NC_000012.12:g.42460417G>C	ClinVar
PRICKLE1	Q96MT3	p.Asp635Asn	rs1203666124	missense variant	-	NC_000012.12:g.42460402C>T	gnomAD
PRICKLE1	Q96MT3	p.Ile638Thr	rs1389513502	missense variant	-	NC_000012.12:g.42460392A>G	TOPMed
PRICKLE1	Q96MT3	p.Asn640Ser	rs139937830	missense variant	-	NC_000012.12:g.42460386T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Ala	rs374621616	missense variant	-	NC_000012.12:g.42460383C>G	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	rs374621616	missense variant	-	NC_000012.12:g.42460383C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly641Glu	RCV000327055	missense variant	-	NC_000012.12:g.42460383C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr643Asp	rs1346255030	missense variant	-	NC_000012.12:g.42460378A>C	TOPMed
PRICKLE1	Q96MT3	p.Ile645Val	rs780633961	missense variant	-	NC_000012.12:g.42460372T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg648Gly	rs370129051	missense variant	-	NC_000012.12:g.42460363G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg648Trp	rs370129051	missense variant	-	NC_000012.12:g.42460363G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro651Ala	rs1439559141	missense variant	-	NC_000012.12:g.42460354G>C	gnomAD
PRICKLE1	Q96MT3	p.Pro651Leu	rs750913400	missense variant	-	NC_000012.12:g.42460353G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Met652Val	rs1194478107	missense variant	-	NC_000012.12:g.42460351T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu654Lys	rs1555229356	missense variant	-	NC_000012.12:g.42460345C>T	-
PRICKLE1	Q96MT3	p.Glu654Lys	RCV000658028	missense variant	-	NC_000012.12:g.42460345C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg655Gly	rs557639324	missense variant	-	NC_000012.12:g.42460342T>C	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr656Ile	rs1383784474	missense variant	-	NC_000012.12:g.42460338G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg657Gly	rs751217827	missense variant	-	NC_000012.12:g.42460336G>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg659Cys	rs376257338	missense variant	-	NC_000012.12:g.42460330G>A	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Val660Ile	rs143947284	missense variant	-	NC_000012.12:g.42460327C>T	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr661Ser	rs775196409	missense variant	-	NC_000012.12:g.42460323T>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	rs769599129	missense variant	-	NC_000012.12:g.42460320T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn662Ser	RCV000188729	missense variant	-	NC_000012.12:g.42460320T>C	ClinVar
PRICKLE1	Q96MT3	p.Arg666Lys	rs370547490	missense variant	-	NC_000012.12:g.42460308C>T	ESP
PRICKLE1	Q96MT3	p.Ser668Thr	rs794727934	missense variant	-	NC_000012.12:g.42460303A>T	TOPMed
PRICKLE1	Q96MT3	p.Ser668Thr	RCV000180379	missense variant	-	NC_000012.12:g.42460303A>T	ClinVar
PRICKLE1	Q96MT3	p.His671Asn	rs776619006	missense variant	-	NC_000012.12:g.42460294G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Tyr	rs776619006	missense variant	-	NC_000012.12:g.42460294G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.His671Leu	RCV000646043	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460293T>A	ClinVar
PRICKLE1	Q96MT3	p.His671Leu	rs1555229335	missense variant	-	NC_000012.12:g.42460293T>A	-
PRICKLE1	Q96MT3	p.Arg674Pro	rs748173327	missense variant	-	NC_000012.12:g.42460284C>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674His	rs748173327	missense variant	-	NC_000012.12:g.42460284C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg674Cys	rs572205675	missense variant	-	NC_000012.12:g.42460285G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675Leu	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>A	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg675His	rs1233536174	missense variant	-	NC_000012.12:g.42460281C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Trp	rs779314205	missense variant	-	NC_000012.12:g.42460279G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	rs377294908	missense variant	-	NC_000012.12:g.42460278C>T	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg676Gln	RCV000408271	missense variant	-	NC_000012.12:g.42460278C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg676Leu	rs377294908	missense variant	-	NC_000012.12:g.42460278C>A	ESP,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg677Lys	rs1469487017	missense variant	-	NC_000012.12:g.42460275C>T	gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	rs1057520141	missense variant	-	NC_000012.12:g.42460268T>G	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg679Ser	RCV000433520	missense variant	-	NC_000012.12:g.42460268T>G	ClinVar
PRICKLE1	Q96MT3	p.Lys680Glu	rs1325512194	missense variant	-	NC_000012.12:g.42460267T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg682Cys	rs768954477	missense variant	-	NC_000012.12:g.42460261G>A	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Arg682Cys	VAR_066855	missense variant	-	NC_000012.12:g.42460261G>A	UniProt
PRICKLE1	Q96MT3	p.Arg682His	rs189093086	missense variant	-	NC_000012.12:g.42460260C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Ser	rs1214661052	missense variant	-	NC_000012.12:g.42460251T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn685Asp	rs1374079074	missense variant	-	NC_000012.12:g.42460252T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala686Thr	rs1312641761	missense variant	-	NC_000012.12:g.42460249C>T	gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	rs149496604	missense variant	-	NC_000012.12:g.42460234T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr691Ala	RCV000186656	missense variant	-	NC_000012.12:g.42460234T>C	ClinVar
PRICKLE1	Q96MT3	p.Lys694Arg	rs750904030	missense variant	-	NC_000012.12:g.42460224T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser696Ala	rs1373885694	missense variant	-	NC_000012.12:g.42460219A>C	gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	rs781672373	missense variant	-	NC_000012.12:g.42460216G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro697Ser	RCV000646045	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460216G>A	ClinVar
PRICKLE1	Q96MT3	p.Lys698Arg	rs1255209046	missense variant	-	NC_000012.12:g.42460212T>C	gnomAD
PRICKLE1	Q96MT3	p.Asp699Glu	rs1555229289	missense variant	-	NC_000012.12:g.42460208G>T	-
PRICKLE1	Q96MT3	p.Asp699Glu	RCV000547364	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460208G>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	rs369790443	missense variant	-	NC_000012.12:g.42460200C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Trp	rs751021008	missense variant	-	NC_000012.12:g.42460201G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000724229	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000796891	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Arg702Gln	RCV000188749	missense variant	-	NC_000012.12:g.42460200C>T	ClinVar
PRICKLE1	Q96MT3	p.Leu703Pro	rs758085094	missense variant	-	NC_000012.12:g.42460197A>G	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr704Phe	rs752387857	missense variant	-	NC_000012.12:g.42460194T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr705Asn	rs765001355	missense variant	-	NC_000012.12:g.42460191G>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Thr705Ile	rs765001355	missense variant	-	NC_000012.12:g.42460191G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ser	rs377228096	missense variant	-	NC_000012.12:g.42460189G>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro706Ala	rs377228096	missense variant	-	NC_000012.12:g.42460189G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp707Asn	rs369077719	missense variant	-	NC_000012.12:g.42460186C>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn708Asp	rs371991440	missense variant	-	NC_000012.12:g.42460183T>C	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Tyr709Cys	rs750226436	missense variant	-	NC_000012.12:g.42460179T>C	TOPMed
PRICKLE1	Q96MT3	p.Glu710Lys	rs774624657	missense variant	-	NC_000012.12:g.42460177C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Lys	rs749541698	missense variant	-	NC_000012.12:g.42460160A>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Asn715Ser	rs768827796	missense variant	-	NC_000012.12:g.42460161T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Lys716Arg	rs775721420	missense variant	-	NC_000012.12:g.42460158T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ala718Thr	rs1169709352	missense variant	-	NC_000012.12:g.42460153C>T	gnomAD
PRICKLE1	Q96MT3	p.Ala718Val	rs1474386408	missense variant	-	NC_000012.12:g.42460152G>A	gnomAD
PRICKLE1	Q96MT3	p.Arg719Trp	rs746199700	missense variant	-	NC_000012.12:g.42460150G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg719Gln	rs779059953	missense variant	-	NC_000012.12:g.42460149C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu720Lys	rs757810750	missense variant	-	NC_000012.12:g.42460147C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu720Gly	rs1179638990	missense variant	-	NC_000012.12:g.42460146T>C	gnomAD
PRICKLE1	Q96MT3	p.Ala723Thr	rs796052933	missense variant	-	NC_000012.12:g.42460138C>T	-
PRICKLE1	Q96MT3	p.Ala723Thr	RCV000188750	missense variant	-	NC_000012.12:g.42460138C>T	ClinVar
PRICKLE1	Q96MT3	p.Tyr724Phe	rs747481880	missense variant	-	NC_000012.12:g.42460134T>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ile725Met	rs1555229265	missense variant	-	NC_000012.12:g.42460130G>C	-
PRICKLE1	Q96MT3	p.Ile725Met	RCV000646042	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460130G>C	ClinVar
PRICKLE1	Q96MT3	p.Ala728Gly	rs1295243932	missense variant	-	NC_000012.12:g.42460122G>C	TOPMed
PRICKLE1	Q96MT3	p.Asp729Gly	rs867192260	missense variant	-	NC_000012.12:g.42460119T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Leu730His	rs777329767	missense variant	-	NC_000012.12:g.42460116A>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr731Cys	rs567656128	missense variant	-	NC_000012.12:g.42460113T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	rs150287042	missense variant	-	NC_000012.12:g.42460111C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly732Arg	RCV000646055	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460111C>T	ClinVar
PRICKLE1	Q96MT3	p.His736Arg	rs1459887277	missense variant	-	NC_000012.12:g.42460098T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ala737Thr	rs753625155	missense variant	-	NC_000012.12:g.42460096C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Thr738Ala	RCV000367059	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460093T>C	ClinVar
PRICKLE1	Q96MT3	p.Thr738Ala	rs886049375	missense variant	-	NC_000012.12:g.42460093T>C	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	rs138452760	missense variant	-	NC_000012.12:g.42460089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser739Phe	RCV000656030	missense variant	Rolandic epilepsy	NC_000012.12:g.42460089G>A	ClinVar
PRICKLE1	Q96MT3	p.Asp740Tyr	rs760738396	missense variant	-	NC_000012.12:g.42460087C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp740Asn	rs760738396	missense variant	-	NC_000012.12:g.42460087C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr741Cys	rs375420597	missense variant	-	NC_000012.12:g.42460083T>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Asp	rs1180000042	missense variant	-	NC_000012.12:g.42460080C>T	gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	rs370967125	missense variant	-	NC_000012.12:g.42460081C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly742Ser	RCV000188751	missense variant	-	NC_000012.12:g.42460081C>T	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ala	rs3827522	missense variant	-	NC_000012.12:g.42460069G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro746Ser	RCV000333507	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460069G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro746Ser	rs3827522	missense variant	-	NC_000012.12:g.42460069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asn749Ser	rs1251795147	missense variant	-	NC_000012.12:g.42460059T>C	gnomAD
PRICKLE1	Q96MT3	p.Arg750Gln	rs1323129125	missense variant	-	NC_000012.12:g.42460056C>T	TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg750Trp	rs1156455994	missense variant	-	NC_000012.12:g.42460057G>A	gnomAD
PRICKLE1	Q96MT3	p.Gly756Ser	rs777019107	missense variant	-	NC_000012.12:g.42460039C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000188731	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000536124	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Glu757Lys	rs145860632	missense variant	-	NC_000012.12:g.42460036C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Glu757Lys	RCV000716611	missense variant	-	NC_000012.12:g.42460036C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Asn	rs886042287	missense variant	-	NC_000012.12:g.42460030C>T	-
PRICKLE1	Q96MT3	p.Asp759Asn	RCV000382170	missense variant	-	NC_000012.12:g.42460030C>T	ClinVar
PRICKLE1	Q96MT3	p.Asp759Gly	rs778196919	missense variant	-	NC_000012.12:g.42460029T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp760Asn	rs1224570985	missense variant	-	NC_000012.12:g.42460027C>T	TOPMed
PRICKLE1	Q96MT3	p.Ser761Phe	rs1315175045	missense variant	-	NC_000012.12:g.42460023G>A	TOPMed
PRICKLE1	Q96MT3	p.Cys763Ser	rs886044288	missense variant	-	NC_000012.12:g.42460017C>G	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	rs886044288	missense variant	-	NC_000012.12:g.42460017C>T	gnomAD
PRICKLE1	Q96MT3	p.Cys763Tyr	RCV000358745	missense variant	-	NC_000012.12:g.42460017C>T	ClinVar
PRICKLE1	Q96MT3	p.Ser765Phe	rs747655113	missense variant	-	NC_000012.12:g.42460011G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Ser768Phe	rs914541520	missense variant	-	NC_000012.12:g.42460002G>A	TOPMed
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	UniProt,dbSNP
PRICKLE1	Q96MT3	p.Asp771Asn	VAR_066857	missense variant	-	NC_000012.12:g.42459994C>T	UniProt
PRICKLE1	Q96MT3	p.Asp771Asn	rs146670726	missense variant	-	NC_000012.12:g.42459994C>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Asp771Tyr	rs146670726	missense variant	-	NC_000012.12:g.42459994C>A	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser772Leu	rs1191261840	missense variant	-	NC_000012.12:g.42459990G>A	gnomAD
PRICKLE1	Q96MT3	p.Glu775Gly	RCV000697300	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459981T>C	ClinVar
PRICKLE1	Q96MT3	p.Glu775Gly	rs1239945627	missense variant	-	NC_000012.12:g.42459981T>C	gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	rs768039518	missense variant	-	NC_000012.12:g.42459975T>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Tyr777Cys	RCV000482708	missense variant	-	NC_000012.12:g.42459975T>C	ClinVar
PRICKLE1	Q96MT3	p.Leu779Pro	rs374409698	missense variant	-	NC_000012.12:g.42459969A>G	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro782Ser	rs752866274	missense variant	-	NC_000012.12:g.42459961G>A	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Arg787Leu	rs776819993	missense variant	-	NC_000012.12:g.42459945C>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Gln	rs776819993	missense variant	-	NC_000012.12:g.42459945C>T	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Arg787Trp	rs765199745	missense variant	-	NC_000012.12:g.42459946G>A	ExAC
PRICKLE1	Q96MT3	p.Arg787Trp	RCV000415096	missense variant	-	NC_000012.12:g.42459946G>A	ClinVar
PRICKLE1	Q96MT3	p.Pro788Leu	rs200984524	missense variant	-	NC_000012.12:g.42459942G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln789His	rs549385436	missense variant	-	NC_000012.12:g.42459938C>G	1000Genomes,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Phe791Leu	rs1448019140	missense variant	-	NC_000012.12:g.42459934A>G	gnomAD
PRICKLE1	Q96MT3	p.Tyr794His	rs201705679	missense variant	-	NC_000012.12:g.42459925A>G	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Ser799Cys	VAR_066858	Missense	-	-	UniProt
PRICKLE1	Q96MT3	p.Ser800Arg	rs139855191	missense variant	-	NC_000012.12:g.42459905A>T	ESP,ExAC,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ser	rs779783898	missense variant	-	NC_000012.12:g.42459904G>A	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro801Ala	rs779783898	missense variant	-	NC_000012.12:g.42459904G>C	ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	rs150545495	missense variant	-	NC_000012.12:g.42459901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Pro802Ser	RCV000306724	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459901G>A	ClinVar
PRICKLE1	Q96MT3	p.Ala804Thr	rs1477936981	missense variant	-	NC_000012.12:g.42459895C>T	gnomAD
PRICKLE1	Q96MT3	p.Pro808Thr	rs780823369	missense variant	-	NC_000012.12:g.42459883G>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gln809Lys	rs142613488	missense variant	-	NC_000012.12:g.42459880G>T	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gln809Glu	rs142613488	missense variant	-	NC_000012.12:g.42459880G>C	ESP,ExAC,TOPMed,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	rs751446088	missense variant	-	NC_000012.12:g.42459874C>T	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly811Ser	RCV000646038	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459874C>T	ClinVar
PRICKLE1	Q96MT3	p.Lys816Glu	rs1304426627	missense variant	-	NC_000012.12:g.42459859T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Arg	rs1305882970	missense variant	-	NC_000012.12:g.42459852T>C	gnomAD
PRICKLE1	Q96MT3	p.Lys818Asn	rs1294910838	missense variant	-	NC_000012.12:g.42459851C>G	gnomAD
PRICKLE1	Q96MT3	p.Lys820Gln	rs1342604313	missense variant	-	NC_000012.12:g.42459847T>G	gnomAD
PRICKLE1	Q96MT3	p.Lys821Arg	rs754065513	missense variant	-	NC_000012.12:g.42459843T>C	ExAC,gnomAD
PRICKLE1	Q96MT3	p.Gly822Val	rs1371533275	missense variant	-	NC_000012.12:g.42459840C>A	TOPMed
PRICKLE1	Q96MT3	p.Lys824Arg	rs1025491656	missense variant	-	NC_000012.12:g.42459834T>C	TOPMed
PRICKLE1	Q96MT3	p.Gly825Ser	rs1555229171	missense variant	-	NC_000012.12:g.42459832C>T	-
PRICKLE1	Q96MT3	p.Gly825Ser	RCV000551581	missense variant	Progressive myoclonus epilepsy with ataxia (EPM1B)	NC_000012.12:g.42459832C>T	ClinVar
TBC1D32	Q96NH3	p.Ala2Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121334427C>T	NCI-TCGA
TBC1D32	Q96NH3	p.His3Arg	rs1404808287	missense variant	-	NC_000006.12:g.121334423T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.His3Tyr	rs767530791	missense variant	-	NC_000006.12:g.121334424G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.His3Pro	rs1404808287	missense variant	-	NC_000006.12:g.121334423T>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser5Tyr	COSM3857949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334417G>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser6Arg	rs774493032	missense variant	-	NC_000006.12:g.121334413G>T	ExAC
TBC1D32	Q96NH3	p.Ser6Thr	rs759797631	missense variant	-	NC_000006.12:g.121334414C>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu7Lys	rs372012861	missense variant	-	NC_000006.12:g.121334412C>T	ESP,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu7Lys	rs372012861	missense variant	-	NC_000006.12:g.121334412C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Gln9His	rs1161966712	missense variant	-	NC_000006.12:g.121334404C>G	gnomAD
TBC1D32	Q96NH3	p.Gln9Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121334406G>T	NCI-TCGA
TBC1D32	Q96NH3	p.Ala10Glu	rs1329698911	missense variant	-	NC_000006.12:g.121334402G>T	TOPMed
TBC1D32	Q96NH3	p.Met11Leu	rs747960848	missense variant	-	NC_000006.12:g.121334400T>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu12Pro	rs776670394	missense variant	-	NC_000006.12:g.121334396A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala14Thr	rs1186483069	missense variant	-	NC_000006.12:g.121334391C>T	gnomAD
TBC1D32	Q96NH3	p.Met15Val	rs746983995	missense variant	-	NC_000006.12:g.121334388T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu19Ser	rs990660797	missense variant	-	NC_000006.12:g.121334375A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln21Arg	rs757906194	missense variant	-	NC_000006.12:g.121334369T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys24Asn	COSM1072787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334359C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ile27Met	rs1051968341	missense variant	-	NC_000006.12:g.121334350G>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr28Lys	rs1283608621	missense variant	-	NC_000006.12:g.121334348G>T	gnomAD
TBC1D32	Q96NH3	p.Thr28Met	rs1283608621	missense variant	-	NC_000006.12:g.121334348G>A	gnomAD
TBC1D32	Q96NH3	p.Ala30Val	COSM4760759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334342G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser32Phe	rs778438539	missense variant	-	NC_000006.12:g.121334336G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu33Val	rs1389814933	missense variant	-	NC_000006.12:g.121334334G>C	gnomAD
TBC1D32	Q96NH3	p.Leu33Pro	rs1316433693	missense variant	-	NC_000006.12:g.121334333A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Cys35Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121334328A>C	NCI-TCGA
TBC1D32	Q96NH3	p.Glu37Lys	COSM1072786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334322C>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu37Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121334320T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Glu38Asp	COSM1072785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121334317C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ile39Leu	rs1323209264	missense variant	-	NC_000006.12:g.121334316T>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile39Thr	rs1404093356	missense variant	-	NC_000006.12:g.121334315A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu40Ile	rs367896649	missense variant	-	NC_000006.12:g.121334313G>T	ESP,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu48Ter	COSM279441	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121334289C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu48Asp	rs754218862	missense variant	-	NC_000006.12:g.121334287T>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn49Ser	rs1020641078	missense variant	-	NC_000006.12:g.121334285T>C	gnomAD
TBC1D32	Q96NH3	p.Tyr53Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121321792T>A	NCI-TCGA
TBC1D32	Q96NH3	p.Glu54Lys	rs1230847939	missense variant	-	NC_000006.12:g.121321790C>T	TOPMed
TBC1D32	Q96NH3	p.Val56Met	rs376165898	missense variant	-	NC_000006.12:g.121321784C>T	ESP,ExAC,gnomAD
TBC1D32	Q96NH3	p.Tyr58Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121321778A>C	NCI-TCGA
TBC1D32	Q96NH3	p.Leu59Ile	rs1274018014	missense variant	-	NC_000006.12:g.121321775G>T	TOPMed
TBC1D32	Q96NH3	p.Leu59Pro	rs778103033	missense variant	-	NC_000006.12:g.121321774A>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg60Lys	COSM3857946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121321771C>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Arg60Met	rs1424190891	missense variant	-	NC_000006.12:g.121321771C>A	gnomAD
TBC1D32	Q96NH3	p.His62Tyr	rs1249728359	missense variant	-	NC_000006.12:g.121321766G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.His62Arg	rs1461709684	missense variant	-	NC_000006.12:g.121321765T>C	TOPMed
TBC1D32	Q96NH3	p.Gly64Val	rs781554056	missense variant	-	NC_000006.12:g.121321759C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly64Ser	rs753188911	missense variant	-	NC_000006.12:g.121321760C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gly64Asp	rs781554056	missense variant	-	NC_000006.12:g.121321759C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly64Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121321760C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Asn65Ser	rs751613942	missense variant	-	NC_000006.12:g.121321756T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr66Ser	rs999579644	missense variant	-	NC_000006.12:g.121321753G>C	TOPMed
TBC1D32	Q96NH3	p.Leu67Trp	rs1442261150	missense variant	-	NC_000006.12:g.121321750A>C	gnomAD
TBC1D32	Q96NH3	p.Gly68Ser	rs1279775428	missense variant	-	NC_000006.12:g.121321748C>T	gnomAD
TBC1D32	Q96NH3	p.Gly68Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121321747C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Met70Val	rs535817936	missense variant	-	NC_000006.12:g.121321742T>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Met70Leu	rs535817936	missense variant	-	NC_000006.12:g.121321742T>G	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile71Thr	rs1412207789	missense variant	-	NC_000006.12:g.121321738A>G	TOPMed
TBC1D32	Q96NH3	p.Glu73Lys	rs763925354	missense variant	-	NC_000006.12:g.121321733C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu74Gly	rs566951967	missense variant	-	NC_000006.12:g.121321729T>C	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Met75Thr	rs775461845	missense variant	-	NC_000006.12:g.121321726A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu76Lys	rs771929833	missense variant	-	NC_000006.12:g.121321724C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu76Lys	rs771929833	missense variant	-	NC_000006.12:g.121321724C>T	NCI-TCGA,NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Lys77Asn	rs759563147	missense variant	-	NC_000006.12:g.121321719T>G	ExAC
TBC1D32	Q96NH3	p.Cys78Tyr	rs770492344	missense variant	-	NC_000006.12:g.121321717C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys78Arg	rs376405397	missense variant	-	NC_000006.12:g.121321718A>G	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr79Ala	COSM2150425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121321715T>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser80Cys	rs1470578568	missense variant	-	NC_000006.12:g.121321711G>C	TOPMed
TBC1D32	Q96NH3	p.Asp81Gly	rs1409608687	missense variant	-	NC_000006.12:g.121321708T>C	gnomAD
TBC1D32	Q96NH3	p.Asp81Glu	rs1159860744	missense variant	-	NC_000006.12:g.121321707A>C	gnomAD
TBC1D32	Q96NH3	p.Asp81His	rs1470927939	missense variant	-	NC_000006.12:g.121321709C>G	gnomAD
TBC1D32	Q96NH3	p.Arg82Trp	rs777414033	missense variant	-	NC_000006.12:g.121321706G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg82Gln	rs7767455	missense variant	-	NC_000006.12:g.121321705C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg82Gln	rs7767455	missense variant	-	NC_000006.12:g.121321705C>T	UniProt,dbSNP
TBC1D32	Q96NH3	p.Arg82Gln	VAR_046958	missense variant	-	NC_000006.12:g.121321705C>T	UniProt
TBC1D32	Q96NH3	p.Arg82Leu	rs7767455	missense variant	-	NC_000006.12:g.121321705C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn83Asp	rs1410234737	missense variant	-	NC_000006.12:g.121321703T>C	gnomAD
TBC1D32	Q96NH3	p.Asn83Lys	rs1180405213	missense variant	-	NC_000006.12:g.121321701A>T	gnomAD
TBC1D32	Q96NH3	p.Gln84Ter	rs1472552505	stop gained	-	NC_000006.12:g.121321700G>A	gnomAD
TBC1D32	Q96NH3	p.Gln84His	rs1178546026	missense variant	-	NC_000006.12:g.121321698C>A	gnomAD
TBC1D32	Q96NH3	p.Cys88Arg	rs1248778136	missense variant	-	NC_000006.12:g.121321688A>G	gnomAD
TBC1D32	Q96NH3	p.Cys88Phe	rs1222614507	missense variant	-	NC_000006.12:g.121321687C>A	gnomAD
TBC1D32	Q96NH3	p.Cys88Ter	rs1238423089	stop gained	-	NC_000006.12:g.121321686G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly89Cys	COSM6104748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121321685C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Gly89Asp	COSM1072782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121321684C>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Gly89Ser	rs368973341	missense variant	-	NC_000006.12:g.121321685C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr90His	rs1463800959	missense variant	-	NC_000006.12:g.121321682A>G	gnomAD
TBC1D32	Q96NH3	p.Tyr90Cys	rs1268105734	missense variant	-	NC_000006.12:g.121321681T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp91Asn	rs1242478684	missense variant	-	NC_000006.12:g.121321679C>T	gnomAD
TBC1D32	Q96NH3	p.Val93Ile	rs755408441	missense variant	-	NC_000006.12:g.121321673C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr98Pro	rs377092378	missense variant	-	NC_000006.12:g.121321658T>G	ESP,ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys99Glu	rs1315505213	missense variant	-	NC_000006.12:g.121321655T>C	gnomAD
TBC1D32	Q96NH3	p.Arg100Ile	rs1454410226	missense variant	-	NC_000006.12:g.121321651C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Arg100Ile	rs1454410226	missense variant	-	NC_000006.12:g.121321651C>A	gnomAD
TBC1D32	Q96NH3	p.Glu103Gln	rs1319873597	missense variant	-	NC_000006.12:g.121321643C>G	gnomAD
TBC1D32	Q96NH3	p.Ser104Tyr	rs755885234	missense variant	-	NC_000006.12:g.121321639G>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser104Cys	rs755885234	missense variant	-	NC_000006.12:g.121321639G>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu106Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121321634C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Lys108Thr	rs1227937886	missense variant	-	NC_000006.12:g.121317667T>G	gnomAD
TBC1D32	Q96NH3	p.Glu109Ter	rs1309018147	stop gained	-	NC_000006.12:g.121317665C>A	gnomAD
TBC1D32	Q96NH3	p.Met110Thr	rs370051847	missense variant	-	NC_000006.12:g.121317661A>G	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Met111Leu	rs772688545	missense variant	-	NC_000006.12:g.121317659T>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Met111Ile	rs1437496460	missense variant	-	NC_000006.12:g.121317657C>T	TOPMed
TBC1D32	Q96NH3	p.His112Asn	rs1159906190	missense variant	-	NC_000006.12:g.121317656G>T	TOPMed
TBC1D32	Q96NH3	p.Ile117Met	rs537789219	missense variant	-	NC_000006.12:g.121317639A>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile119Val	rs1408260263	missense variant	-	NC_000006.12:g.121317635T>C	gnomAD
TBC1D32	Q96NH3	p.Glu123Lys	rs1463893375	missense variant	-	NC_000006.12:g.121317623C>T	gnomAD
TBC1D32	Q96NH3	p.Glu123Asp	rs747406997	missense variant	-	NC_000006.12:g.121317621C>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Met125Thr	rs776088477	missense variant	-	NC_000006.12:g.121317616A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Met125Val	rs1012819155	missense variant	-	NC_000006.12:g.121317617T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn127Lys	rs772681470	missense variant	-	NC_000006.12:g.121317609G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys128Asn	rs746413488	missense variant	-	NC_000006.12:g.121317606C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys128Arg	rs377267743	missense variant	-	NC_000006.12:g.121317607T>C	ESP,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu130AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121317602_121317603insTCTTTATGTCCCTTTACGTT	NCI-TCGA
TBC1D32	Q96NH3	p.Glu130Val	rs778857756	missense variant	-	NC_000006.12:g.121317601T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu130AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121317601_121317602insTTTG	NCI-TCGA
TBC1D32	Q96NH3	p.Asp132Val	rs749416628	missense variant	-	NC_000006.12:g.121317595T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp132Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121317596C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Glu133Asp	rs1311508125	missense variant	-	NC_000006.12:g.121317591C>G	TOPMed
TBC1D32	Q96NH3	p.Glu133Gly	rs1379118850	missense variant	-	NC_000006.12:g.121317592T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg135Gln	rs191143380	missense variant	-	NC_000006.12:g.121317586C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu138Lys	rs751379533	missense variant	-	NC_000006.12:g.121317578C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile143Val	rs779873544	missense variant	-	NC_000006.12:g.121317563T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile143Thr	rs1393352392	missense variant	-	NC_000006.12:g.121317562A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile143Met	COSM739402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121317561G>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ile143AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121317562_121317563insT	NCI-TCGA
TBC1D32	Q96NH3	p.Gln144Arg	rs199778877	missense variant	-	NC_000006.12:g.121317559T>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys145Met	rs750417553	missense variant	-	NC_000006.12:g.121317556T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys147Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121317551T>C	NCI-TCGA
TBC1D32	Q96NH3	p.Lys147Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121317550T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Ser148Asn	rs1157561661	missense variant	-	NC_000006.12:g.121317547C>T	gnomAD
TBC1D32	Q96NH3	p.Ser148Thr	rs1157561661	missense variant	-	NC_000006.12:g.121317547C>G	gnomAD
TBC1D32	Q96NH3	p.His149Asn	rs369594864	missense variant	-	NC_000006.12:g.121317545G>T	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.His149Asp	rs369594864	missense variant	-	NC_000006.12:g.121317545G>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.His149Arg	rs1488352407	missense variant	-	NC_000006.12:g.121317544T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser150Gly	rs753390780	missense variant	-	NC_000006.12:g.121317542T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg152Cys	rs75540618	missense variant	-	NC_000006.12:g.121317536G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg152His	rs775961751	missense variant	-	NC_000006.12:g.121317535C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr153Ile	rs772636474	missense variant	-	NC_000006.12:g.121317532G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp154Gly	rs760110962	missense variant	-	NC_000006.12:g.121317529T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn155Asp	rs1264980487	missense variant	-	NC_000006.12:g.121317527T>C	gnomAD
TBC1D32	Q96NH3	p.Asn155Ser	rs774938386	missense variant	-	NC_000006.12:g.121317526T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn155Lys	rs770852531	missense variant	-	NC_000006.12:g.121317525A>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser157Phe	rs75747353	missense variant	-	NC_000006.12:g.121317520G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp158Gly	rs777810187	missense variant	-	NC_000006.12:g.121317517T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser159Gly	rs769982883	missense variant	-	NC_000006.12:g.121317515T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp160Gly	rs748409661	missense variant	-	NC_000006.12:g.121317511T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn164His	rs779810260	missense variant	-	NC_000006.12:g.121317500T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn164Ser	rs1395524348	missense variant	-	NC_000006.12:g.121317499T>C	TOPMed
TBC1D32	Q96NH3	p.Asn164Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121317499T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Ser166Gly	rs778620332	missense variant	-	NC_000006.12:g.121310847T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser166Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121310846C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Lys168Thr	rs757184606	missense variant	-	NC_000006.12:g.121310840T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys168Arg	rs757184606	missense variant	-	NC_000006.12:g.121310840T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Cys170Tyr	rs1268190973	missense variant	-	NC_000006.12:g.121310834C>T	gnomAD
TBC1D32	Q96NH3	p.Cys170Arg	rs1467130356	missense variant	-	NC_000006.12:g.121310835A>G	gnomAD
TBC1D32	Q96NH3	p.Gln171Glu	rs1223518398	missense variant	-	NC_000006.12:g.121310832G>C	gnomAD
TBC1D32	Q96NH3	p.Leu174Ter	rs755702957	stop gained	-	NC_000006.12:g.121310822A>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu174Ile	COSM1440185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121310823A>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Leu174Ser	rs755702957	missense variant	-	NC_000006.12:g.121310822A>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln175Leu	rs1272490917	missense variant	-	NC_000006.12:g.121310819T>A	gnomAD
TBC1D32	Q96NH3	p.Asp179Asn	rs1301924491	missense variant	-	NC_000006.12:g.121310808C>T	gnomAD
TBC1D32	Q96NH3	p.Gln180Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121310804T>C	NCI-TCGA
TBC1D32	Q96NH3	p.Leu181Met	rs1383137990	missense variant	-	NC_000006.12:g.121310802A>T	TOPMed
TBC1D32	Q96NH3	p.Asp182Asn	COSM1487189	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121310799C>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Pro183Thr	rs755250906	missense variant	-	NC_000006.12:g.121310796G>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Pro183Arg	rs751932310	missense variant	-	NC_000006.12:g.121310795G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Pro186Leu	rs1409205681	missense variant	-	NC_000006.12:g.121310786G>A	gnomAD
TBC1D32	Q96NH3	p.Lys187Glu	rs1163458731	missense variant	-	NC_000006.12:g.121310784T>C	TOPMed
TBC1D32	Q96NH3	p.Glu188Gln	rs573022154	missense variant	-	NC_000006.12:g.121310781C>G	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu188Lys	rs573022154	missense variant	-	NC_000006.12:g.121310781C>T	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg190Ser	rs571743350	missense variant	-	NC_000006.12:g.121308096T>A	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu192Lys	rs777862010	missense variant	-	NC_000006.12:g.121308092C>T	ExAC
TBC1D32	Q96NH3	p.Ala193Gly	rs1177047549	missense variant	-	NC_000006.12:g.121308088G>C	gnomAD
TBC1D32	Q96NH3	p.Gln195Arg	rs747686469	missense variant	-	NC_000006.12:g.121308082T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln195Lys	rs755647981	missense variant	-	NC_000006.12:g.121308083G>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr196Arg	rs754629638	missense variant	-	NC_000006.12:g.121308079G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr196Ala	rs767746855	missense variant	-	NC_000006.12:g.121308080T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr196Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121308079G>A	NCI-TCGA
TBC1D32	Q96NH3	p.Leu197Ter	rs1208409436	stop gained	-	NC_000006.12:g.121308076A>C	gnomAD
TBC1D32	Q96NH3	p.Cys198Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121308072_121308073insAAAACAAGTTCAAACTGATTGTTTTGTGAGAATTGTT	NCI-TCGA
TBC1D32	Q96NH3	p.Ala200Thr	rs766753507	missense variant	-	NC_000006.12:g.121308068C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Pro201Arg	rs1281455372	missense variant	-	NC_000006.12:g.121308064G>C	gnomAD
TBC1D32	Q96NH3	p.Pro201Ala	rs370854423	missense variant	-	NC_000006.12:g.121308065G>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro201Ser	rs370854423	missense variant	-	NC_000006.12:g.121308065G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro202Ala	rs77386127	missense variant	-	NC_000006.12:g.121308062G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn207Ser	rs184732605	missense variant	-	NC_000006.12:g.121308046T>C	1000Genomes,ExAC
TBC1D32	Q96NH3	p.Cys208Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121308041_121308042CA>-	NCI-TCGA
TBC1D32	Q96NH3	p.Trp211Cys	COSM6171998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121308033C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Trp211Leu	rs1381754910	missense variant	-	NC_000006.12:g.121308034C>A	gnomAD
TBC1D32	Q96NH3	p.Thr212Ser	rs775585026	missense variant	-	NC_000006.12:g.121308032T>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr213Ala	rs1433460722	missense variant	-	NC_000006.12:g.121308029T>C	TOPMed
TBC1D32	Q96NH3	p.Thr213Ile	rs770697795	missense variant	-	NC_000006.12:g.121308028G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Cys215Tyr	rs201594875	missense variant	-	NC_000006.12:g.121308022C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu216Asp	rs1444470940	missense variant	-	NC_000006.12:g.121308018T>G	gnomAD
TBC1D32	Q96NH3	p.Glu216Lys	rs374512287	missense variant	-	NC_000006.12:g.121308020C>T	ESP,ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu218Pro	rs748138763	missense variant	-	NC_000006.12:g.121308013A>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val220Met	rs567530456	missense variant	-	NC_000006.12:g.121308008C>T	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val220Leu	rs567530456	missense variant	-	NC_000006.12:g.121308008C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp224Glu	rs547748116	missense variant	-	NC_000006.12:g.121307994A>T	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp224His	rs1379225072	missense variant	-	NC_000006.12:g.121307996C>G	gnomAD
TBC1D32	Q96NH3	p.Asp224Gly	rs989272125	missense variant	-	NC_000006.12:g.121307995T>C	gnomAD
TBC1D32	Q96NH3	p.Asp226Gly	rs758739395	missense variant	-	NC_000006.12:g.121307989T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Pro227Arg	rs1246084775	missense variant	-	NC_000006.12:g.121307986G>C	TOPMed
TBC1D32	Q96NH3	p.Val228Met	rs750763632	missense variant	-	NC_000006.12:g.121307984C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser230Asn	rs779286874	missense variant	-	NC_000006.12:g.121307977C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp231Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121304833C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Arg232Trp	rs771592456	missense variant	-	NC_000006.12:g.121304830G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg232Pro	rs181574808	missense variant	-	NC_000006.12:g.121304829C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg232Leu	rs181574808	missense variant	-	NC_000006.12:g.121304829C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg232Gln	rs181574808	missense variant	-	NC_000006.12:g.121304829C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Phe236Val	rs757627247	missense variant	-	NC_000006.12:g.121304818A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala238Thr	rs569425701	missense variant	-	NC_000006.12:g.121304812C>T	1000Genomes
TBC1D32	Q96NH3	p.Leu242Ser	rs79040695	missense variant	-	NC_000006.12:g.121304799A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu243Phe	rs778178787	missense variant	-	NC_000006.12:g.121304797G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser244Phe	rs756173006	missense variant	-	NC_000006.12:g.121304793G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro245Leu	rs752700068	missense variant	-	NC_000006.12:g.121304790G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro245Gln	rs752700068	missense variant	-	NC_000006.12:g.121304790G>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu246Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121304786T>A	NCI-TCGA
TBC1D32	Q96NH3	p.Met248Arg	rs1171742573	missense variant	-	NC_000006.12:g.121304781A>C	gnomAD
TBC1D32	Q96NH3	p.Met248Val	rs200654402	missense variant	-	NC_000006.12:g.121304782T>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr249Ile	rs920895140	missense variant	-	NC_000006.12:g.121304778G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu251Lys	rs1425173293	missense variant	-	NC_000006.12:g.121304773C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu251Asp	rs751888161	missense variant	-	NC_000006.12:g.121304771T>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile252Met	rs752163282	missense variant	-	NC_000006.12:g.121304768A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr254Ala	rs761730450	missense variant	-	NC_000006.12:g.121304764T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys258Arg	rs1261244409	missense variant	-	NC_000006.12:g.121304622T>C	gnomAD
TBC1D32	Q96NH3	p.Tyr259Cys	rs1324379304	missense variant	-	NC_000006.12:g.121304619T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu260Trp	rs1237190528	missense variant	-	NC_000006.12:g.121304616A>C	gnomAD
TBC1D32	Q96NH3	p.Ser262Thr	rs368310250	missense variant	-	NC_000006.12:g.121304611A>T	ESP,TOPMed
TBC1D32	Q96NH3	p.Ser266Phe	rs760514087	missense variant	-	NC_000006.12:g.121304598G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser266Pro	rs764016337	missense variant	-	NC_000006.12:g.121304599A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu268Lys	COSM1072772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121304593C>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu268Gly	rs1448948146	missense variant	-	NC_000006.12:g.121304592T>C	TOPMed
TBC1D32	Q96NH3	p.His270Arg	rs185568348	missense variant	-	NC_000006.12:g.121304586T>C	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile271Leu	rs759075480	missense variant	-	NC_000006.12:g.121304584T>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Pro272Arg	COSM739404	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121304580G>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser275Thr	rs375331890	missense variant	-	NC_000006.12:g.121304572A>T	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly277Val	rs1450957479	missense variant	-	NC_000006.12:g.121304565C>A	gnomAD
TBC1D32	Q96NH3	p.Val278Ile	rs770553588	missense variant	-	NC_000006.12:g.121304563C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp279Ala	rs773445637	missense variant	-	NC_000006.12:g.121304559T>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp279Tyr	rs564221990	missense variant	-	NC_000006.12:g.121304560C>A	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile280Val	rs9490157	missense variant	-	NC_000006.12:g.121304557T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile280Thr	rs781725666	missense variant	-	NC_000006.12:g.121304556A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Pro283Ser	rs1258384791	missense variant	-	NC_000006.12:g.121304548G>A	gnomAD
TBC1D32	Q96NH3	p.Arg287His	rs193216500	missense variant	-	NC_000006.12:g.121304535C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg287Cys	rs889563650	missense variant	-	NC_000006.12:g.121304536G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys291Met	rs1454189457	missense variant	-	NC_000006.12:g.121304523T>A	TOPMed
TBC1D32	Q96NH3	p.Val292Ile	rs1489906890	missense variant	-	NC_000006.12:g.121304426C>T	gnomAD
TBC1D32	Q96NH3	p.Arg293Cys	rs200703769	missense variant	-	NC_000006.12:g.121304423G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg293His	rs377465896	missense variant	-	NC_000006.12:g.121304422C>T	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu295Val	rs1269003077	missense variant	-	NC_000006.12:g.121304417G>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn296Ser	rs572804128	missense variant	-	NC_000006.12:g.121304413T>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn296Lys	COSM1568097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121304412A>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Tyr298His	COSM3620048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121304408A>G	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Gln299Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121304405G>A	NCI-TCGA
TBC1D32	Q96NH3	p.Ala302Thr	rs1243995148	missense variant	-	NC_000006.12:g.121304396C>T	TOPMed
TBC1D32	Q96NH3	p.Pro303Ser	rs940673242	missense variant	-	NC_000006.12:g.121304393G>A	TOPMed
TBC1D32	Q96NH3	p.Ser304Phe	rs746006397	missense variant	-	NC_000006.12:g.121304389G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Phe305Leu	rs755813147	missense variant	-	NC_000006.12:g.121304385G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Phe305Cys	rs1211282201	missense variant	-	NC_000006.12:g.121304386A>C	gnomAD
TBC1D32	Q96NH3	p.Arg308His	rs781008183	missense variant	-	NC_000006.12:g.121304377C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg308Cys	rs752518415	missense variant	-	NC_000006.12:g.121304378G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr313His	rs1258363358	missense variant	-	NC_000006.12:g.121303760A>G	TOPMed
TBC1D32	Q96NH3	p.Met314Ile	rs780955437	missense variant	-	NC_000006.12:g.121303755C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu315Gln	rs754781417	missense variant	-	NC_000006.12:g.121303754C>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu316Gly	rs557959718	missense variant	-	NC_000006.12:g.121303750T>C	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu316Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121303751C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Glu316Ter	COSM1072771	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121303751C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu316Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121303749T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Ser320Gly	rs372865216	missense variant	-	NC_000006.12:g.121303739T>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr321Ser	rs1219469730	missense variant	-	NC_000006.12:g.121303735G>C	gnomAD
TBC1D32	Q96NH3	p.Val327Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121303717A>C	NCI-TCGA
TBC1D32	Q96NH3	p.His329Asp	rs544736064	missense variant	-	NC_000006.12:g.121303712G>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.His329Arg	rs1470389619	missense variant	-	NC_000006.12:g.121303711T>C	TOPMed
TBC1D32	Q96NH3	p.Asn330Ser	rs764718810	missense variant	-	NC_000006.12:g.121303708T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln331Arg	rs1333291123	missense variant	-	NC_000006.12:g.121303705T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln331Glu	rs756920472	missense variant	-	NC_000006.12:g.121303706G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.His333Arg	rs993313182	missense variant	-	NC_000006.12:g.121303699T>C	gnomAD
TBC1D32	Q96NH3	p.His333Tyr	rs1030211625	missense variant	-	NC_000006.12:g.121303700G>A	gnomAD
TBC1D32	Q96NH3	p.Val334Ala	rs753557552	missense variant	-	NC_000006.12:g.121303696A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Val335Asp	rs1406128642	missense variant	-	NC_000006.12:g.121303693A>T	gnomAD
TBC1D32	Q96NH3	p.Ser336Leu	COSM594137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121303690G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser336Ter	rs764483143	stop gained	-	NC_000006.12:g.121303690G>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln337Ter	rs1159204092	stop gained	-	NC_000006.12:g.121303688G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys338Asn	rs776088581	missense variant	-	NC_000006.12:g.121303683C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys338Asn	COSM1072770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121303683C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Lys338Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121303684T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Ile339Thr	rs1182300691	missense variant	-	NC_000006.12:g.121303681A>G	gnomAD
TBC1D32	Q96NH3	p.Leu340Phe	COSM1072769	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121303677C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Leu340Trp	rs1366812582	missense variant	-	NC_000006.12:g.121303678A>C	TOPMed
TBC1D32	Q96NH3	p.Pro342Thr	rs768043693	missense variant	-	NC_000006.12:g.121303673G>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Pro342Leu	rs368934038	missense variant	-	NC_000006.12:g.121303672G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr344Cys	rs1281789811	missense variant	-	NC_000006.12:g.121303666T>C	gnomAD
TBC1D32	Q96NH3	p.Phe345Ile	rs768402360	missense variant	-	NC_000006.12:g.121303664A>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Phe346Ser	rs1354168022	missense variant	-	NC_000006.12:g.121303660A>G	gnomAD
TBC1D32	Q96NH3	p.Ala347Ser	rs1311122874	missense variant	-	NC_000006.12:g.121303658C>A	gnomAD
TBC1D32	Q96NH3	p.Leu348Ser	rs781116575	missense variant	-	NC_000006.12:g.121303654A>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val349Asp	rs1002788359	missense variant	-	NC_000006.12:g.121303651A>T	TOPMed
TBC1D32	Q96NH3	p.Asp350Asn	rs745851336	missense variant	-	NC_000006.12:g.121303649C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp350Tyr	rs745851336	missense variant	-	NC_000006.12:g.121303649C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr351Ile	rs778428612	missense variant	-	NC_000006.12:g.121303645G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr351Ala	rs1450372175	missense variant	-	NC_000006.12:g.121303646T>C	gnomAD
TBC1D32	Q96NH3	p.Lys352Glu	rs1420479138	missense variant	-	NC_000006.12:g.121303643T>C	gnomAD
TBC1D32	Q96NH3	p.Lys352Thr	rs555955350	missense variant	-	NC_000006.12:g.121303642T>G	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Val354Met	rs755877318	missense variant	-	NC_000006.12:g.121303637C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val354Gly	rs1220914471	missense variant	-	NC_000006.12:g.121303636A>C	TOPMed
TBC1D32	Q96NH3	p.Lys357Gln	rs199782641	missense variant	-	NC_000006.12:g.121303628T>G	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys358Asn	COSM1072768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121303623C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Trp359Leu	rs1177041928	missense variant	-	NC_000006.12:g.121303621C>A	TOPMed
TBC1D32	Q96NH3	p.Trp359Cys	rs369991535	missense variant	-	NC_000006.12:g.121303620C>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Trp359Arg	rs1480982834	missense variant	-	NC_000006.12:g.121303622A>T	TOPMed
TBC1D32	Q96NH3	p.Trp359Cys	rs369991535	missense variant	-	NC_000006.12:g.121303620C>G	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Trp359ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121303623_121303624insT	NCI-TCGA
TBC1D32	Q96NH3	p.His361Gln	rs1342438087	missense variant	-	NC_000006.12:g.121299503A>C	gnomAD
TBC1D32	Q96NH3	p.Ala362Ser	rs368391297	missense variant	-	NC_000006.12:g.121299502C>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.His363Tyr	rs1389357201	missense variant	-	NC_000006.12:g.121299499G>A	TOPMed
TBC1D32	Q96NH3	p.Arg366Ile	rs1368774919	missense variant	-	NC_000006.12:g.121299489C>A	gnomAD
TBC1D32	Q96NH3	p.Leu372Pro	rs755827704	missense variant	-	NC_000006.12:g.121299471A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu373His	rs1425072444	missense variant	-	NC_000006.12:g.121299468A>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu373Phe	rs1465746575	missense variant	-	NC_000006.12:g.121299469G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu373Ile	rs1465746575	missense variant	-	NC_000006.12:g.121299469G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu373Pro	rs1425072444	missense variant	-	NC_000006.12:g.121299468A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu374Asp	COSM1440183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121299464T>G	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Thr375Lys	rs9387944	missense variant	-	NC_000006.12:g.121299462G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys376Glu	rs781567231	missense variant	-	NC_000006.12:g.121299460T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Tyr377Ter	rs372200890	stop gained	-	NC_000006.12:g.121299455A>T	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr377Phe	rs755306173	missense variant	-	NC_000006.12:g.121299456T>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr377Cys	rs755306173	missense variant	-	NC_000006.12:g.121299456T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser379Tyr	rs766895595	missense variant	-	NC_000006.12:g.121299450G>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser379Phe	rs766895595	missense variant	-	NC_000006.12:g.121299450G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu380Val	rs1223164615	missense variant	-	NC_000006.12:g.121299448G>C	gnomAD
TBC1D32	Q96NH3	p.Val381Ile	rs747774753	missense variant	-	NC_000006.12:g.121294660C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr383Ala	rs751849141	missense variant	-	NC_000006.12:g.121294654T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr383Ile	rs780438238	missense variant	-	NC_000006.12:g.121294653G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala384Gly	rs1451114135	missense variant	-	NC_000006.12:g.121294650G>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile385Phe	rs758891682	missense variant	-	NC_000006.12:g.121294648T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys388Phe	rs765233735	missense variant	-	NC_000006.12:g.121294638C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys388Arg	rs1186740849	missense variant	-	NC_000006.12:g.121294639A>G	gnomAD
TBC1D32	Q96NH3	p.Val389Ile	rs1258286390	missense variant	-	NC_000006.12:g.121294636C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln390Ter	rs1488064917	stop gained	-	NC_000006.12:g.121294633G>A	gnomAD
TBC1D32	Q96NH3	p.Gln390His	rs200409965	missense variant	-	NC_000006.12:g.121294631C>G	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Phe392Ser	rs1219314470	missense variant	-	NC_000006.12:g.121294626A>G	gnomAD
TBC1D32	Q96NH3	p.Glu393Asp	rs1357727348	missense variant	-	NC_000006.12:g.121294622T>A	gnomAD
TBC1D32	Q96NH3	p.Met394Thr	rs1284196893	missense variant	-	NC_000006.12:g.121294620A>G	gnomAD
TBC1D32	Q96NH3	p.Cys395Tyr	rs754039147	missense variant	-	NC_000006.12:g.121294617C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Cys395Ser	rs754039147	missense variant	-	NC_000006.12:g.121294617C>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys396Arg	rs1239759460	missense variant	-	NC_000006.12:g.121294614T>C	TOPMed
TBC1D32	Q96NH3	p.Lys396Glu	COSM3620044	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121294615T>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Thr397Ile	rs199684963	missense variant	-	NC_000006.12:g.121294611G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu402Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121294597C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Leu404Ser	rs1397552049	missense variant	-	NC_000006.12:g.121294590A>G	gnomAD
TBC1D32	Q96NH3	p.His406Tyr	rs774009815	missense variant	-	NC_000006.12:g.121294585G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.His406Leu	rs1182524077	missense variant	-	NC_000006.12:g.121294584T>A	TOPMed
TBC1D32	Q96NH3	p.His406Asp	rs774009815	missense variant	-	NC_000006.12:g.121294585G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys408Glu	rs985658256	missense variant	-	NC_000006.12:g.121294579T>C	TOPMed
TBC1D32	Q96NH3	p.Lys413Glu	rs1414917889	missense variant	-	NC_000006.12:g.121292188T>C	gnomAD
TBC1D32	Q96NH3	p.Phe417Val	rs1293677587	missense variant	-	NC_000006.12:g.121292176A>C	TOPMed
TBC1D32	Q96NH3	p.Tyr418Cys	rs1029506739	missense variant	-	NC_000006.12:g.121292172T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr419His	rs762877005	missense variant	-	NC_000006.12:g.121292170A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu420Ter	rs773235849	stop gained	-	NC_000006.12:g.121292166A>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly421Glu	rs1437862119	missense variant	-	NC_000006.12:g.121292163C>T	TOPMed
TBC1D32	Q96NH3	p.Gln422Pro	rs765064522	missense variant	-	NC_000006.12:g.121292160T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu423Ter	rs761851856	stop gained	-	NC_000006.12:g.121292158C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln425Ter	rs1258085333	stop gained	-	NC_000006.12:g.121292152G>A	gnomAD
TBC1D32	Q96NH3	p.Tyr426Cys	rs776002244	missense variant	-	NC_000006.12:g.121292148T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile427Val	rs1190778982	missense variant	-	NC_000006.12:g.121292146T>C	TOPMed
TBC1D32	Q96NH3	p.Ile430Leu	rs74677725	missense variant	-	NC_000006.12:g.121292137T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg438Gly	rs775154354	missense variant	-	NC_000006.12:g.121292113T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu440Phe	rs1401154432	missense variant	-	NC_000006.12:g.121292105C>G	gnomAD
TBC1D32	Q96NH3	p.Ile441Thr	rs780383132	missense variant	-	NC_000006.12:g.121292103A>G	gnomAD
TBC1D32	Q96NH3	p.Lys443Glu	rs1168746663	missense variant	-	NC_000006.12:g.121292098T>C	TOPMed
TBC1D32	Q96NH3	p.Gln444Pro	rs1412811554	missense variant	-	NC_000006.12:g.121292094T>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys447Thr	COSM1072765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121292085T>G	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ile451Leu	rs372997464	missense variant	-	NC_000006.12:g.121292074T>G	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile451Val	rs372997464	missense variant	-	NC_000006.12:g.121292074T>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys452Arg	rs1362360195	missense variant	-	NC_000006.12:g.121292070T>C	gnomAD
TBC1D32	Q96NH3	p.Lys452Asn	rs369009845	missense variant	-	NC_000006.12:g.121292069C>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys454Arg	COSM1072764	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121292064T>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Lys454Gln	rs777658924	missense variant	-	NC_000006.12:g.121292065T>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys457Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121292055T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Gly458Ser	rs752930659	missense variant	-	NC_000006.12:g.121292053C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gly458ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121292053_121292054insT	NCI-TCGA
TBC1D32	Q96NH3	p.Gly458Cys	COSM1072763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121292053C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Leu459Trp	rs755247543	missense variant	-	NC_000006.12:g.121283907A>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu459Phe	rs577124824	missense variant	-	NC_000006.12:g.121283906C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser461Cys	rs367923600	missense variant	-	NC_000006.12:g.121283901G>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu462Ile	rs1378559589	missense variant	-	NC_000006.12:g.121283899G>T	gnomAD
TBC1D32	Q96NH3	p.Leu462Pro	rs757104992	missense variant	-	NC_000006.12:g.121283898A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile463Val	rs557088263	missense variant	-	NC_000006.12:g.121283896T>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp464Asn	COSM1072762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121283893C>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Leu465Pro	rs1304023250	missense variant	-	NC_000006.12:g.121283889A>G	TOPMed
TBC1D32	Q96NH3	p.Leu466Arg	COSM1072761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121283886A>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Leu466Phe	rs764069843	missense variant	-	NC_000006.12:g.121283887G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val467Ile	rs749631407	missense variant	-	NC_000006.12:g.121283884C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Val467Ala	COSM279440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121283883A>G	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Val467Phe	rs749631407	missense variant	-	NC_000006.12:g.121283884C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu468Ile	rs1420767893	missense variant	-	NC_000006.12:g.121283881G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr470Ala	rs1258995885	missense variant	-	NC_000006.12:g.121283875T>C	gnomAD
TBC1D32	Q96NH3	p.Gln471His	rs370027510	missense variant	-	NC_000006.12:g.121283870T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu472Arg	COSM1440182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121283868A>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ile473Met	rs1163308962	missense variant	-	NC_000006.12:g.121283864G>C	gnomAD
TBC1D32	Q96NH3	p.Ile473Thr	rs1003987697	missense variant	-	NC_000006.12:g.121283865A>G	TOPMed
TBC1D32	Q96NH3	p.Tyr474Cys	rs767069299	missense variant	-	NC_000006.12:g.121283862T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr475Ter	rs1337555042	stop gained	-	NC_000006.12:g.121283858G>T	gnomAD
TBC1D32	Q96NH3	p.Pro477Thr	rs774060292	missense variant	-	NC_000006.12:g.121283854G>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro477Ala	rs774060292	missense variant	-	NC_000006.12:g.121283854G>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser478Gly	rs1056307867	missense variant	-	NC_000006.12:g.121283851T>C	TOPMed
TBC1D32	Q96NH3	p.Ser478Cys	rs1056307867	missense variant	-	NC_000006.12:g.121283851T>A	TOPMed
TBC1D32	Q96NH3	p.Cys479Trp	rs771163450	missense variant	-	NC_000006.12:g.121283846A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys479Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121283847C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Lys481Gln	rs1475894036	missense variant	-	NC_000006.12:g.121283842T>G	gnomAD
TBC1D32	Q96NH3	p.Met482Ile	rs1418377476	missense variant	-	NC_000006.12:g.121283837C>A	TOPMed
TBC1D32	Q96NH3	p.Thr483Ala	rs1260674500	missense variant	-	NC_000006.12:g.121283836T>C	gnomAD
TBC1D32	Q96NH3	p.Ser484Ter	rs763402182	stop gained	-	NC_000006.12:g.121283832G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala485Val	rs1156878444	missense variant	-	NC_000006.12:g.121283829G>A	TOPMed
TBC1D32	Q96NH3	p.Ala486Ser	rs1488500064	missense variant	-	NC_000006.12:g.121283827C>A	gnomAD
TBC1D32	Q96NH3	p.His487Pro	rs1219316562	missense variant	-	NC_000006.12:g.121283823T>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.His487Tyr	rs377121755	missense variant	-	NC_000006.12:g.121283824G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.His487Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121283823T>C	NCI-TCGA
TBC1D32	Q96NH3	p.Ser488Pro	rs1324793232	missense variant	-	NC_000006.12:g.121283821A>G	TOPMed
TBC1D32	Q96NH3	p.Ser488Leu	rs140063363	missense variant	-	NC_000006.12:g.121283820G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu489Asp	COSM1177106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121281685C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu489Val	rs201652810	missense variant	-	NC_000006.12:g.121281686T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn490Ser	rs1445144796	missense variant	-	NC_000006.12:g.121281683T>C	gnomAD
TBC1D32	Q96NH3	p.Ser492Phe	rs765758059	missense variant	-	NC_000006.12:g.121281677G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser492Cys	rs765758059	missense variant	-	NC_000006.12:g.121281677G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Pro493Ser	rs762355644	missense variant	-	NC_000006.12:g.121281675G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro493Leu	COSM3620042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121281674G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Thr498Asn	rs1425541532	missense variant	-	NC_000006.12:g.121281659G>T	gnomAD
TBC1D32	Q96NH3	p.Glu499Gln	rs747085285	missense variant	-	NC_000006.12:g.121281657C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu501Pro	rs1266630462	missense variant	-	NC_000006.12:g.121281650A>G	TOPMed
TBC1D32	Q96NH3	p.Trp502Arg	rs1199405682	missense variant	-	NC_000006.12:g.121281648A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Trp502Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121281647C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Ile503Thr	rs1481655668	missense variant	-	NC_000006.12:g.121281644A>G	gnomAD
TBC1D32	Q96NH3	p.Leu504Phe	rs1254487522	missense variant	-	NC_000006.12:g.121281642G>A	gnomAD
TBC1D32	Q96NH3	p.Ser505Cys	rs79221470	missense variant	-	NC_000006.12:g.121281639T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser505Thr	rs1313173906	missense variant	-	NC_000006.12:g.121281638C>G	gnomAD
TBC1D32	Q96NH3	p.Ser505Gly	rs79221470	missense variant	-	NC_000006.12:g.121281639T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp506Val	rs200303171	missense variant	-	NC_000006.12:g.121281635T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln507Pro	rs755906263	missense variant	-	NC_000006.12:g.121281632T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln507Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121281633G>T	NCI-TCGA
TBC1D32	Q96NH3	p.Glu509Gly	rs781131102	missense variant	-	NC_000006.12:g.121281626T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Cys510Ser	rs751049160	missense variant	-	NC_000006.12:g.121281623C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys510Tyr	rs751049160	missense variant	-	NC_000006.12:g.121281623C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala511Ser	rs765875717	missense variant	-	NC_000006.12:g.121281621C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu513Val	rs758059813	missense variant	-	NC_000006.12:g.121281614T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Tyr516Phe	rs137979053	missense variant	-	NC_000006.12:g.121281605T>A	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Tyr516Cys	rs137979053	missense variant	-	NC_000006.12:g.121281605T>C	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn517Tyr	rs762288375	missense variant	-	NC_000006.12:g.121281603T>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn517Asp	rs762288375	missense variant	-	NC_000006.12:g.121281603T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile519Thr	rs1175328751	missense variant	-	NC_000006.12:g.121281596A>G	gnomAD
TBC1D32	Q96NH3	p.Val520Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121281594C>G	NCI-TCGA
TBC1D32	Q96NH3	p.Ile521Val	rs201680026	missense variant	-	NC_000006.12:g.121281591T>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile521Met	rs1379687214	missense variant	-	NC_000006.12:g.121281589T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu522Lys	rs1204103577	missense variant	-	NC_000006.12:g.121281588C>T	gnomAD
TBC1D32	Q96NH3	p.Thr523Ile	rs764660976	missense variant	-	NC_000006.12:g.121281584G>A	ExAC
TBC1D32	Q96NH3	p.Thr523Ser	rs1179102070	missense variant	-	NC_000006.12:g.121281585T>A	gnomAD
TBC1D32	Q96NH3	p.Leu524Phe	rs1420970314	missense variant	-	NC_000006.12:g.121281582G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu524Ile	rs1420970314	missense variant	-	NC_000006.12:g.121281582G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu524His	rs761153200	missense variant	-	NC_000006.12:g.121281581A>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln526Arg	rs1305208158	missense variant	-	NC_000006.12:g.121281575T>C	TOPMed
TBC1D32	Q96NH3	p.Pro527His	rs543310549	missense variant	-	NC_000006.12:g.121281572G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro527Ser	rs1318774655	missense variant	-	NC_000006.12:g.121281573G>A	TOPMed
TBC1D32	Q96NH3	p.Pro527Leu	rs543310549	missense variant	-	NC_000006.12:g.121281572G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.His529Gln	rs1483721948	missense variant	-	NC_000006.12:g.121281565G>C	gnomAD
TBC1D32	Q96NH3	p.His529Tyr	rs1291158707	missense variant	-	NC_000006.12:g.121281567G>A	TOPMed
TBC1D32	Q96NH3	p.Asn530Ser	rs1282709453	missense variant	-	NC_000006.12:g.121281563T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn530Ile	rs1282709453	missense variant	-	NC_000006.12:g.121281563T>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu531Val	rs569558097	missense variant	-	NC_000006.12:g.121281561A>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Met532Arg	rs774590000	missense variant	-	NC_000006.12:g.121281557A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Met532Thr	rs774590000	missense variant	-	NC_000006.12:g.121281557A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys533Glu	rs1269326040	missense variant	-	NC_000006.12:g.121281555T>C	TOPMed
TBC1D32	Q96NH3	p.Ala537Gly	rs1195843271	missense variant	-	NC_000006.12:g.121279244G>C	gnomAD
TBC1D32	Q96NH3	p.Ala537Pro	rs202238791	missense variant	-	NC_000006.12:g.121279245C>G	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala537Ser	rs202238791	missense variant	-	NC_000006.12:g.121279245C>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser538Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121279241G>T	NCI-TCGA
TBC1D32	Q96NH3	p.Asn540Asp	rs1312916681	missense variant	-	NC_000006.12:g.121279236T>C	TOPMed
TBC1D32	Q96NH3	p.Cys541Gly	rs1409177701	missense variant	-	NC_000006.12:g.121279233A>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu543Lys	rs1334941859	missense variant	-	NC_000006.12:g.121279227C>T	gnomAD
TBC1D32	Q96NH3	p.Ile547Leu	rs1283854461	missense variant	-	NC_000006.12:g.121279215T>G	TOPMed
TBC1D32	Q96NH3	p.Ile549Val	rs753257342	missense variant	-	NC_000006.12:g.121279209T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile549Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121279207T>C	NCI-TCGA
TBC1D32	Q96NH3	p.Ala550Thr	rs1316969250	missense variant	-	NC_000006.12:g.121279206C>T	gnomAD
TBC1D32	Q96NH3	p.Gly551Ser	rs991717579	missense variant	-	NC_000006.12:g.121279203C>T	TOPMed
TBC1D32	Q96NH3	p.Gly551Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121279203C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Gly551Asp	rs1177054605	missense variant	-	NC_000006.12:g.121279202C>T	gnomAD
TBC1D32	Q96NH3	p.Leu553Ser	rs1270394087	missense variant	-	NC_000006.12:g.121279196A>G	gnomAD
TBC1D32	Q96NH3	p.Ala554Thr	rs778627862	missense variant	-	NC_000006.12:g.121279194C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg555Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121279190C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Ile556Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121279188T>C	NCI-TCGA
TBC1D32	Q96NH3	p.Glu561Asp	rs1468910078	missense variant	-	NC_000006.12:g.121279171T>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu561Val	rs1441489489	missense variant	-	NC_000006.12:g.121279172T>A	gnomAD
TBC1D32	Q96NH3	p.Gly562Ala	rs753557471	missense variant	-	NC_000006.12:g.121279169C>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly562Glu	rs753557471	missense variant	-	NC_000006.12:g.121279169C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu566Val	rs1248722423	missense variant	-	NC_000006.12:g.121279158G>C	gnomAD
TBC1D32	Q96NH3	p.Gly569Ala	rs764832559	missense variant	-	NC_000006.12:g.121279148C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gly569Glu	rs764832559	missense variant	-	NC_000006.12:g.121279148C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala570Val	rs1477250970	missense variant	-	NC_000006.12:g.121279145G>A	gnomAD
TBC1D32	Q96NH3	p.Asn571Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121279143T>C	NCI-TCGA
TBC1D32	Q96NH3	p.Met572Ile	rs1223464058	missense variant	-	NC_000006.12:g.121279138C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser574Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121279133G>A	NCI-TCGA
TBC1D32	Q96NH3	p.Ser574Pro	rs1490213828	missense variant	-	NC_000006.12:g.121279134A>G	gnomAD
TBC1D32	Q96NH3	p.Ser575Thr	rs753201205	missense variant	-	NC_000006.12:g.121279131A>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu576Lys	rs1470251862	missense variant	-	NC_000006.12:g.121279128C>T	gnomAD
TBC1D32	Q96NH3	p.Glu577LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121279125C>-	NCI-TCGA
TBC1D32	Q96NH3	p.Glu577Ter	COSM1440180	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121279125C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Pro579His	COSM259842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121256283G>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Pro579Ser	rs777311700	missense variant	-	NC_000006.12:g.121256284G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr580Ile	rs755841235	missense variant	-	NC_000006.12:g.121256280G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala582Ser	rs755465061	missense variant	-	NC_000006.12:g.121256275C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala582Thr	rs755465061	missense variant	-	NC_000006.12:g.121256275C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile584Arg	rs143181650	missense variant	-	NC_000006.12:g.121256268A>C	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile584Val	rs752077627	missense variant	-	NC_000006.12:g.121256269T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile584Thr	rs143181650	missense variant	-	NC_000006.12:g.121256268A>G	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile585Met	rs750598563	missense variant	-	NC_000006.12:g.121256264A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala586Asp	rs765342712	missense variant	-	NC_000006.12:g.121256262G>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala586Gly	rs765342712	missense variant	-	NC_000006.12:g.121256262G>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln587Glu	rs762159947	missense variant	-	NC_000006.12:g.121256260G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln587Arg	rs1035588513	missense variant	-	NC_000006.12:g.121256259T>C	TOPMed
TBC1D32	Q96NH3	p.Phe588Leu	rs775130673	missense variant	-	NC_000006.12:g.121256257A>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser589Leu	rs767358318	missense variant	-	NC_000006.12:g.121256253G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys591Arg	rs1332698114	missense variant	-	NC_000006.12:g.121256247T>C	TOPMed
TBC1D32	Q96NH3	p.Lys591AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121256246T>-	NCI-TCGA
TBC1D32	Q96NH3	p.Leu592His	rs1410766577	missense variant	-	NC_000006.12:g.121256244A>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu592Phe	rs1022528983	missense variant	-	NC_000006.12:g.121256245G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp594Asn	rs1471515962	missense variant	-	NC_000006.12:g.121256239C>T	gnomAD
TBC1D32	Q96NH3	p.Glu595Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121256236C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Ile597Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121256228A>C	NCI-TCGA
TBC1D32	Q96NH3	p.Ile597Phe	rs770514713	missense variant	-	NC_000006.12:g.121256230T>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser598Ala	rs1419331648	missense variant	-	NC_000006.12:g.121256227A>C	TOPMed
TBC1D32	Q96NH3	p.Ile599Val	rs7745023	missense variant	-	NC_000006.12:g.121256224T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile599Met	rs1462497038	missense variant	-	NC_000006.12:g.121256222T>C	TOPMed
TBC1D32	Q96NH3	p.Ile599Leu	rs7745023	missense variant	-	NC_000006.12:g.121256224T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser601Phe	rs12203967	missense variant	-	NC_000006.12:g.121256217G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser601Tyr	rs12203967	missense variant	-	NC_000006.12:g.121256217G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly602Ala	rs769327826	missense variant	-	NC_000006.12:g.121256214C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gly602Glu	COSM739409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121256214C>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Gly602Val	rs769327826	missense variant	-	NC_000006.12:g.121256214C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser603Ter	COSM3777060	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121256211G>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Met605Ile	rs755344533	missense variant	-	NC_000006.12:g.121256204C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Met605Leu	rs1442075627	missense variant	-	NC_000006.12:g.121256206T>A	TOPMed
TBC1D32	Q96NH3	p.Pro607Ala	rs747477432	missense variant	-	NC_000006.12:g.121256200G>C	ExAC
TBC1D32	Q96NH3	p.Pro607Leu	rs1226747824	missense variant	-	NC_000006.12:g.121256199G>A	gnomAD
TBC1D32	Q96NH3	p.Val609Gly	rs1355648470	missense variant	-	NC_000006.12:g.121256193A>C	gnomAD
TBC1D32	Q96NH3	p.Gly611Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121256188C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Ala612Thr	rs780564711	missense variant	-	NC_000006.12:g.121256185C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile614Asn	rs1338946150	missense variant	-	NC_000006.12:g.121256178A>T	gnomAD
TBC1D32	Q96NH3	p.Arg618His	rs750463642	missense variant	-	NC_000006.12:g.121256166C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg618Cys	rs918794851	missense variant	-	NC_000006.12:g.121256167G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile620Val	rs1163292548	missense variant	-	NC_000006.12:g.121256161T>C	gnomAD
TBC1D32	Q96NH3	p.Ile620Thr	rs757359868	missense variant	-	NC_000006.12:g.121256160A>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser622Gly	rs754094422	missense variant	-	NC_000006.12:g.121256155T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser622Ile	rs767380550	missense variant	-	NC_000006.12:g.121256154C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser622Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121256155T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Thr623Arg	rs1260558575	missense variant	-	NC_000006.12:g.121256151G>C	gnomAD
TBC1D32	Q96NH3	p.Cys624Ter	rs774336012	stop gained	-	NC_000006.12:g.121256147A>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu625Gly	rs766389175	missense variant	-	NC_000006.12:g.121256145T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly626Cys	rs1451129588	missense variant	-	NC_000006.12:g.121256143C>A	gnomAD
TBC1D32	Q96NH3	p.Leu627Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121256140A>C	NCI-TCGA
TBC1D32	Q96NH3	p.Gln628His	rs1267036022	missense variant	-	NC_000006.12:g.121256135C>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu630Ser	rs747692273	missense variant	-	NC_000006.12:g.121256130A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile631Val	rs775674341	missense variant	-	NC_000006.12:g.121256128T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr632Ile	rs80160290	missense variant	-	NC_000006.12:g.121256124G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu635Phe	rs1480802693	missense variant	-	NC_000006.12:g.121256114C>A	TOPMed
TBC1D32	Q96NH3	p.Ile639Thr	rs747354586	missense variant	-	NC_000006.12:g.121256103A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala640Glu	rs1037546083	missense variant	-	NC_000006.12:g.121256100G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala640Val	rs1037546083	missense variant	-	NC_000006.12:g.121256100G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala642Pro	rs758891570	missense variant	-	NC_000006.12:g.121256095C>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala642Ser	rs758891570	missense variant	-	NC_000006.12:g.121256095C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Trp643Leu	rs746395745	missense variant	-	NC_000006.12:g.121256091C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Trp643Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121256092A>G	NCI-TCGA
TBC1D32	Q96NH3	p.Lys644Arg	rs1169226678	missense variant	-	NC_000006.12:g.121256088T>C	gnomAD
TBC1D32	Q96NH3	p.Lys645Asn	rs778788123	missense variant	-	NC_000006.12:g.121256084C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys645Asn	rs778788123	missense variant	-	NC_000006.12:g.121256084C>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys645ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121256085T>-	NCI-TCGA
TBC1D32	Q96NH3	p.Thr646Ile	rs553385620	missense variant	-	NC_000006.12:g.121255409G>A	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr646Ala	rs1300711628	missense variant	-	NC_000006.12:g.121255410T>C	gnomAD
TBC1D32	Q96NH3	p.Ser650Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121255397G>A	NCI-TCGA
TBC1D32	Q96NH3	p.Glu651Val	rs1377895930	missense variant	-	NC_000006.12:g.121255394T>A	TOPMed
TBC1D32	Q96NH3	p.Arg652Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121255391C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Pro656Thr	rs1057016517	missense variant	-	NC_000006.12:g.121255380G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro656Ser	rs1057016517	missense variant	-	NC_000006.12:g.121255380G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val657Ala	rs938603866	missense variant	-	NC_000006.12:g.121255376A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu658Asp	rs201833154	missense variant	-	NC_000006.12:g.121255372C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu658Gly	rs758248002	missense variant	-	NC_000006.12:g.121255373T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu658Lys	COSM1440179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121255374C>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu658Gln	rs779929168	missense variant	-	NC_000006.12:g.121255374C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gly659Ser	rs765201929	missense variant	-	NC_000006.12:g.121255371C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly659Arg	rs765201929	missense variant	-	NC_000006.12:g.121255371C>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly659ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121255370C>-	NCI-TCGA
TBC1D32	Q96NH3	p.Gly659Val	rs954796464	missense variant	-	NC_000006.12:g.121255370C>A	gnomAD
TBC1D32	Q96NH3	p.Asp661Val	rs753329266	missense variant	-	NC_000006.12:g.121255364T>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val666Ile	rs1259996945	missense variant	-	NC_000006.12:g.121255350C>T	gnomAD
TBC1D32	Q96NH3	p.Ser667Gly	rs760249239	missense variant	-	NC_000006.12:g.121255347T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu669Lys	rs775152075	missense variant	-	NC_000006.12:g.121255341C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser670Tyr	rs1239222557	missense variant	-	NC_000006.12:g.121255337G>T	gnomAD
TBC1D32	Q96NH3	p.Ile673Leu	rs368557262	missense variant	-	NC_000006.12:g.121255329T>G	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile673Val	rs368557262	missense variant	-	NC_000006.12:g.121255329T>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Trp676Cys	rs1373949539	missense variant	-	NC_000006.12:g.121242330C>A	gnomAD
TBC1D32	Q96NH3	p.Trp676Leu	rs77089134	missense variant	-	NC_000006.12:g.121242331C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu677Val	rs776618381	missense variant	-	NC_000006.12:g.121242328T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu677Gly	rs776618381	missense variant	-	NC_000006.12:g.121242328T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp678Glu	rs747206098	missense variant	-	NC_000006.12:g.121242324A>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu681Val	rs1252900561	missense variant	-	NC_000006.12:g.121242317A>C	gnomAD
TBC1D32	Q96NH3	p.Leu681Phe	COSM4932033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121242315T>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Leu681Ter	rs1275790247	stop gained	-	NC_000006.12:g.121242316A>C	TOPMed
TBC1D32	Q96NH3	p.Leu684Ser	rs200162387	missense variant	-	NC_000006.12:g.121242307A>G	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu685Gln	rs749171183	missense variant	-	NC_000006.12:g.121242304A>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala689Ser	rs1229307946	missense variant	-	NC_000006.12:g.121242293C>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro691Leu	rs1302582365	missense variant	-	NC_000006.12:g.121242286G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro691Ala	rs1452423723	missense variant	-	NC_000006.12:g.121242287G>C	gnomAD
TBC1D32	Q96NH3	p.Pro691Arg	rs1302582365	missense variant	-	NC_000006.12:g.121242286G>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly693Ter	COSM3697480	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121242281C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Gly693AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121242285G>-	NCI-TCGA
TBC1D32	Q96NH3	p.Gly693Val	rs754601123	missense variant	-	NC_000006.12:g.121242280C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu694Ser	rs751178222	missense variant	-	NC_000006.12:g.121242277A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu695Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121242274A>T	NCI-TCGA
TBC1D32	Q96NH3	p.Gln698His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121242264T>A	NCI-TCGA
TBC1D32	Q96NH3	p.Gly701Arg	rs763436647	missense variant	-	NC_000006.12:g.121242257C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala702Thr	rs1194740486	missense variant	-	NC_000006.12:g.121242254C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala702Val	rs1377038144	missense variant	-	NC_000006.12:g.121242253G>A	TOPMed
TBC1D32	Q96NH3	p.Glu705Asp	rs1254289093	missense variant	-	NC_000006.12:g.121242243T>A	gnomAD
TBC1D32	Q96NH3	p.Thr708Ile	rs1179008562	missense variant	-	NC_000006.12:g.121242235G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Phe709Ile	rs773763981	missense variant	-	NC_000006.12:g.121242233A>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile710Thr	rs372494211	missense variant	-	NC_000006.12:g.121242229A>G	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile710Lys	rs372494211	missense variant	-	NC_000006.12:g.121242229A>T	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn712Ser	rs927896573	missense variant	-	NC_000006.12:g.121242223T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn712Asp	rs776711519	missense variant	-	NC_000006.12:g.121242224T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn712Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121242222A>T	NCI-TCGA
TBC1D32	Q96NH3	p.Arg713Gln	rs1341972792	missense variant	-	NC_000006.12:g.121242220C>T	TOPMed
TBC1D32	Q96NH3	p.Arg713Ter	rs768618779	stop gained	-	NC_000006.12:g.121242221G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.TyrAla714Ter	rs1441540812	stop gained	-	NC_000006.12:g.121242214_121242216del	gnomAD
TBC1D32	Q96NH3	p.Tyr714Asn	rs1277900319	missense variant	-	NC_000006.12:g.121242218A>T	gnomAD
TBC1D32	Q96NH3	p.Tyr714His	rs1277900319	missense variant	-	NC_000006.12:g.121242218A>G	gnomAD
TBC1D32	Q96NH3	p.Tyr714Ser	rs1400150186	missense variant	-	NC_000006.12:g.121242217T>G	TOPMed
TBC1D32	Q96NH3	p.Ala715Val	COSM4942094	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121242214G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ala715Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121242215C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Lys717AsnPheSerTerUnkUnk	COSM309761	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121242207T>-	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser721Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121241547G>T	NCI-TCGA
TBC1D32	Q96NH3	p.Lys724Arg	rs758167119	missense variant	-	NC_000006.12:g.121241539T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys724Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121241538T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Lys724Thr	rs758167119	missense variant	-	NC_000006.12:g.121241539T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys725Asn	rs200104119	missense variant	-	NC_000006.12:g.121241535T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Lys725AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121241535T>-	NCI-TCGA
TBC1D32	Q96NH3	p.Gly727Asp	rs201609323	missense variant	-	NC_000006.12:g.121241530C>T	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr728Cys	rs756030991	missense variant	-	NC_000006.12:g.121241527T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly729Arg	rs1344015005	missense variant	-	NC_000006.12:g.121241525C>T	gnomAD
TBC1D32	Q96NH3	p.Gly729Ala	rs764183037	missense variant	-	NC_000006.12:g.121241524C>G	ExAC
TBC1D32	Q96NH3	p.Val730Ile	rs998398608	missense variant	-	NC_000006.12:g.121241522C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu731Ser	rs1245826991	missense variant	-	NC_000006.12:g.121241518A>G	gnomAD
TBC1D32	Q96NH3	p.Thr733Ile	rs1369634812	missense variant	-	NC_000006.12:g.121241512G>A	TOPMed
TBC1D32	Q96NH3	p.Arg734Ter	rs200603439	stop gained	-	NC_000006.12:g.121241510G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg734Gln	rs750440790	missense variant	-	NC_000006.12:g.121241509C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg734Leu	rs750440790	missense variant	-	NC_000006.12:g.121241509C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val735Glu	rs999491334	missense variant	-	NC_000006.12:g.121241506A>T	TOPMed
TBC1D32	Q96NH3	p.Ala736Val	rs199718831	missense variant	-	NC_000006.12:g.121241503G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala736Thr	rs375692748	missense variant	-	NC_000006.12:g.121241504C>T	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr738Ile	rs1188468352	missense variant	-	NC_000006.12:g.121241497G>A	gnomAD
TBC1D32	Q96NH3	p.Ala739Thr	rs191814118	missense variant	-	NC_000006.12:g.121241495C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala740Gly	COSM3777059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121241491G>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Gly741Asp	rs900326039	missense variant	-	NC_000006.12:g.121241488C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly741Ser	rs769581491	missense variant	-	NC_000006.12:g.121241489C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly742Asp	rs200421884	missense variant	-	NC_000006.12:g.121241485C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly742Ser	rs748080205	missense variant	-	NC_000006.12:g.121241486C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gly742Val	rs200421884	missense variant	-	NC_000006.12:g.121241485C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu745Ile	rs779781840	missense variant	-	NC_000006.12:g.121241477G>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys746Glu	rs1294131112	missense variant	-	NC_000006.12:g.121241474T>C	gnomAD
TBC1D32	Q96NH3	p.Lys746Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121241472T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Lys747Glu	rs1235535205	missense variant	-	NC_000006.12:g.121241471T>C	gnomAD
TBC1D32	Q96NH3	p.Lys747SerPheSerTerUnk	COSM3171139	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121241470T>-	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Lys747Ter	rs1235535205	stop gained	-	NC_000006.12:g.121241471T>A	gnomAD
TBC1D32	Q96NH3	p.Lys747Arg	rs1160452236	missense variant	-	NC_000006.12:g.121241470T>C	TOPMed
TBC1D32	Q96NH3	p.Lys747Asn	rs758113999	missense variant	-	NC_000006.12:g.121241469C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Phe750Leu	rs1459155969	missense variant	-	NC_000006.12:g.121239186A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn752Ser	rs372378065	missense variant	-	NC_000006.12:g.121239179T>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu753Lys	rs778684628	missense variant	-	NC_000006.12:g.121239177C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile755Val	rs756971457	missense variant	-	NC_000006.12:g.121239171T>C	ExAC,TOPMed
TBC1D32	Q96NH3	p.Ile755Lys	rs749610893	missense variant	-	NC_000006.12:g.121239170A>T	ExAC
TBC1D32	Q96NH3	p.Glu757Val	rs756521076	missense variant	-	NC_000006.12:g.121239164T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu757Gln	rs553617432	missense variant	-	NC_000006.12:g.121239165C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu758Ter	rs753205997	stop gained	-	NC_000006.12:g.121239161A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Trp759Ter	rs1453895442	stop gained	-	NC_000006.12:g.121239157C>T	gnomAD
TBC1D32	Q96NH3	p.Leu762Pro	rs1253661264	missense variant	-	NC_000006.12:g.121239149A>G	gnomAD
TBC1D32	Q96NH3	p.Glu763Ter	rs767545501	stop gained	-	NC_000006.12:g.121239147C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Tyr764Cys	rs755074542	missense variant	-	NC_000006.12:g.121239143T>C	ExAC
TBC1D32	Q96NH3	p.Asp767Gly	rs766560197	missense variant	-	NC_000006.12:g.121239134T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp768Asn	rs763304267	missense variant	-	NC_000006.12:g.121239132C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg770Gly	rs200973240	missense variant	-	NC_000006.12:g.121239126T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr772Ile	rs1248030850	missense variant	-	NC_000006.12:g.121239119G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro774Ser	rs1234146434	missense variant	-	NC_000006.12:g.121239114G>A	gnomAD
TBC1D32	Q96NH3	p.Pro774Leu	rs775585873	missense variant	-	NC_000006.12:g.121239113G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr776Ala	rs1387995294	missense variant	-	NC_000006.12:g.121239108T>C	gnomAD
TBC1D32	Q96NH3	p.Pro778Thr	rs201419425	missense variant	-	NC_000006.12:g.121239102G>T	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val779Leu	rs745336213	missense variant	-	NC_000006.12:g.121239099C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Val779Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121239098A>G	NCI-TCGA
TBC1D32	Q96NH3	p.Asp780Val	rs774070072	missense variant	-	NC_000006.12:g.121239095T>A	ExAC,TOPMed
TBC1D32	Q96NH3	p.Pro781Thr	rs200352559	missense variant	-	NC_000006.12:g.121239093G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro781Ser	rs200352559	missense variant	-	NC_000006.12:g.121239093G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp783Gly	rs748983448	missense variant	-	NC_000006.12:g.121239086T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg784Ter	rs367966058	stop gained	-	NC_000006.12:g.121239084G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg784Gln	rs781649690	missense variant	-	NC_000006.12:g.121239083C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser785Ile	rs1250090966	missense variant	-	NC_000006.12:g.121239080C>A	gnomAD
TBC1D32	Q96NH3	p.Ser785Arg	rs1177943280	missense variant	-	NC_000006.12:g.121239079G>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Cys786Gly	rs1484256772	missense variant	-	NC_000006.12:g.121239078A>C	gnomAD
TBC1D32	Q96NH3	p.Gln787Glu	rs755521566	missense variant	-	NC_000006.12:g.121239075G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln787His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121239073T>A	NCI-TCGA
TBC1D32	Q96NH3	p.Ser789Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121223351G>T	NCI-TCGA
TBC1D32	Q96NH3	p.Tyr799Ser	rs762503574	missense variant	-	NC_000006.12:g.121223321T>G	ExAC,TOPMed
TBC1D32	Q96NH3	p.Pro800Ser	rs909430979	missense variant	-	NC_000006.12:g.121223319G>A	-
TBC1D32	Q96NH3	p.Ile802Met	rs537787315	missense variant	-	NC_000006.12:g.121223311A>C	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu804Gly	rs1164409091	missense variant	-	NC_000006.12:g.121223306T>C	gnomAD
TBC1D32	Q96NH3	p.Arg807Lys	rs776925179	missense variant	-	NC_000006.12:g.121223297C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn808Ser	rs1191445220	missense variant	-	NC_000006.12:g.121223294T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln809Glu	rs374455744	missense variant	-	NC_000006.12:g.121223292G>C	ESP,ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp810Val	rs187705659	missense variant	-	NC_000006.12:g.121223288T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp810Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121223289C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Leu811Arg	rs772492859	missense variant	-	NC_000006.12:g.121223285A>C	ExAC
TBC1D32	Q96NH3	p.Leu811Ile	rs201397946	missense variant	-	NC_000006.12:g.121223286G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu811Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121223286G>C	NCI-TCGA
TBC1D32	Q96NH3	p.Pro812His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121223282G>T	NCI-TCGA
TBC1D32	Q96NH3	p.Lys814Glu	rs745953529	missense variant	-	NC_000006.12:g.121223277T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr815Ala	rs778914931	missense variant	-	NC_000006.12:g.121223274T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser818Phe	COSM1246920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121223264G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser818Ala	rs1208667645	missense variant	-	NC_000006.12:g.121223265A>C	TOPMed
TBC1D32	Q96NH3	p.Arg820His	rs529189059	missense variant	-	NC_000006.12:g.121223258C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg820Ser	rs754841752	missense variant	-	NC_000006.12:g.121223259G>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg820Cys	rs754841752	missense variant	-	NC_000006.12:g.121223259G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg820Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121223259G>C	NCI-TCGA
TBC1D32	Q96NH3	p.Val822Ala	rs565790502	missense variant	-	NC_000006.12:g.121223252A>G	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro823Leu	COSM3828946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121223249G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Thr824Ala	rs551954369	missense variant	-	NC_000006.12:g.121223247T>C	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys825Phe	rs1368814747	missense variant	-	NC_000006.12:g.121223243C>A	gnomAD
TBC1D32	Q96NH3	p.Ile827Thr	rs764743693	missense variant	-	NC_000006.12:g.121223237A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp828Gly	rs1179162808	missense variant	-	NC_000006.12:g.121205162T>C	gnomAD
TBC1D32	Q96NH3	p.Asp828Asn	rs560143926	missense variant	-	NC_000006.12:g.121205163C>T	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile829Val	rs1480524147	missense variant	-	NC_000006.12:g.121205160T>C	gnomAD
TBC1D32	Q96NH3	p.Asp831Gly	rs770566250	missense variant	-	NC_000006.12:g.121205153T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp831Val	rs770566250	missense variant	-	NC_000006.12:g.121205153T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg832Gly	rs763727966	missense variant	-	NC_000006.12:g.121205151T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile834Thr	rs1448641382	missense variant	-	NC_000006.12:g.121205144A>G	TOPMed
TBC1D32	Q96NH3	p.Leu836Phe	rs376375094	missense variant	-	NC_000006.12:g.121205137C>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu836Ser	rs760299666	missense variant	-	NC_000006.12:g.121205138A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn837Asp	rs767776014	missense variant	-	NC_000006.12:g.121205136T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser838Pro	rs1267721664	missense variant	-	NC_000006.12:g.121205133A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser838Phe	rs771614305	missense variant	-	NC_000006.12:g.121205132G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser838Cys	rs771614305	missense variant	-	NC_000006.12:g.121205132G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys841Asn	rs1238557215	missense variant	-	NC_000006.12:g.121205122C>G	gnomAD
TBC1D32	Q96NH3	p.Ile842Val	rs1351310667	missense variant	-	NC_000006.12:g.121205121T>C	gnomAD
TBC1D32	Q96NH3	p.Arg843Cys	rs185093433	missense variant	-	NC_000006.12:g.121205118G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg843His	rs770128390	missense variant	-	NC_000006.12:g.121205117C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg843Ser	rs185093433	missense variant	-	NC_000006.12:g.121205118G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser844Phe	rs1054284681	missense variant	-	NC_000006.12:g.121205114G>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser844Tyr	rs1054284681	missense variant	-	NC_000006.12:g.121205114G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn847Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121205106T>C	NCI-TCGA
TBC1D32	Q96NH3	p.Tyr848Phe	rs779835394	missense variant	-	NC_000006.12:g.121205102T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Tyr848His	rs748334463	missense variant	-	NC_000006.12:g.121205103A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Tyr848Asn	rs748334463	missense variant	-	NC_000006.12:g.121205103A>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu849Lys	COSM1487188	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121205100C>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu849Ter	rs1434804006	stop gained	-	NC_000006.12:g.121205100C>A	TOPMed
TBC1D32	Q96NH3	p.Gln850Lys	rs1426610075	missense variant	-	NC_000006.12:g.121205097G>T	gnomAD
TBC1D32	Q96NH3	p.His852Arg	rs374803442	missense variant	-	NC_000006.12:g.121205090T>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Phe854Leu	rs778787368	missense variant	-	NC_000006.12:g.121205085A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp858Asn	rs1045968889	missense variant	-	NC_000006.12:g.121161055C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile860Val	rs769614495	missense variant	-	NC_000006.12:g.121161049T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp862Gly	rs748120787	missense variant	-	NC_000006.12:g.121161042T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp862Glu	rs775944843	missense variant	-	NC_000006.12:g.121161041A>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu864Phe	rs554522121	missense variant	-	NC_000006.12:g.121161035T>G	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser865Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121161033G>A	NCI-TCGA
TBC1D32	Q96NH3	p.Arg868Ile	rs758169249	missense variant	-	NC_000006.12:g.121161024C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg868Lys	rs758169249	missense variant	-	NC_000006.12:g.121161024C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn869Asp	rs746218871	missense variant	-	NC_000006.12:g.121161022T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.His870Asp	rs779343511	missense variant	-	NC_000006.12:g.121161019G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Val871Ile	rs1178273969	missense variant	-	NC_000006.12:g.121161016C>T	gnomAD
TBC1D32	Q96NH3	p.Leu872Val	rs757650575	missense variant	-	NC_000006.12:g.121161013G>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu872Phe	rs757650575	missense variant	-	NC_000006.12:g.121161013G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val873Ile	rs754394746	missense variant	-	NC_000006.12:g.121161010C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile875Val	rs1183352436	missense variant	-	NC_000006.12:g.121161004T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn876Ser	rs764042251	missense variant	-	NC_000006.12:g.121161000T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu877Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121160998G>T	NCI-TCGA
TBC1D32	Q96NH3	p.Leu877Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121160998G>A	NCI-TCGA
TBC1D32	Q96NH3	p.Val878Ala	rs752823773	missense variant	-	NC_000006.12:g.121160994A>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val878Ile	rs756157694	missense variant	-	NC_000006.12:g.121160995C>T	ExAC,TOPMed
TBC1D32	Q96NH3	p.Gly879Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121160992C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Gly879Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121160991C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Gly880Val	COSM739412	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121160988C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Pro881Leu	rs759819997	missense variant	-	NC_000006.12:g.121160985G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg884Gly	rs376860064	missense variant	-	NC_000006.12:g.121160977G>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg884Trp	rs376860064	missense variant	-	NC_000006.12:g.121160977G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg884Leu	rs776659632	missense variant	-	NC_000006.12:g.121160976C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg884Gln	rs776659632	missense variant	-	NC_000006.12:g.121160976C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro888Leu	rs112983358	missense variant	-	NC_000006.12:g.121160964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg889Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121160961C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Glu892Lys	rs745551546	missense variant	-	NC_000006.12:g.121160953C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys893Met	rs200717925	missense variant	-	NC_000006.12:g.121160949T>A	gnomAD
TBC1D32	Q96NH3	p.Asn896Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121160096T>A	NCI-TCGA
TBC1D32	Q96NH3	p.Pro897Arg	rs1264742404	missense variant	-	NC_000006.12:g.121160093G>C	gnomAD
TBC1D32	Q96NH3	p.Pro899Arg	COSM739413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121160087G>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Pro899His	rs1209085414	missense variant	-	NC_000006.12:g.121160087G>T	gnomAD
TBC1D32	Q96NH3	p.Pro901Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121160081G>A	NCI-TCGA
TBC1D32	Q96NH3	p.Met902Lys	rs1356767019	missense variant	-	NC_000006.12:g.121160078A>T	gnomAD
TBC1D32	Q96NH3	p.Ser904Leu	COSM3620036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121160072G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser905Leu	rs1277762372	missense variant	-	NC_000006.12:g.121160069G>A	-
TBC1D32	Q96NH3	p.Tyr906His	rs1439848910	missense variant	-	NC_000006.12:g.121160067A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro907Ser	rs1226135331	missense variant	-	NC_000006.12:g.121160064G>A	gnomAD
TBC1D32	Q96NH3	p.Asn910Asp	rs1230618769	missense variant	-	NC_000006.12:g.121160055T>C	gnomAD
TBC1D32	Q96NH3	p.Tyr912Asn	rs751628250	missense variant	-	NC_000006.12:g.121160049A>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Tyr912Cys	rs780298524	missense variant	-	NC_000006.12:g.121160048T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu913Met	rs758602871	missense variant	-	NC_000006.12:g.121160046G>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser914Leu	rs753677265	missense variant	-	NC_000006.12:g.121160042G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp915Tyr	rs1317112116	missense variant	-	NC_000006.12:g.121160040C>A	gnomAD
TBC1D32	Q96NH3	p.Thr917Ile	rs763998538	missense variant	-	NC_000006.12:g.121160033G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr917Arg	rs763998538	missense variant	-	NC_000006.12:g.121160033G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala920Ser	rs1391260789	missense variant	-	NC_000006.12:g.121160025C>A	gnomAD
TBC1D32	Q96NH3	p.Asp925Val	COSM3857940	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121131752T>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Asp925Glu	rs150710532	missense variant	-	NC_000006.12:g.121131751G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn926Asp	rs910099679	missense variant	-	NC_000006.12:g.121131750T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn926Ser	rs755944931	missense variant	-	NC_000006.12:g.121131749T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp927Gly	rs752590903	missense variant	-	NC_000006.12:g.121131746T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp927Glu	COSM3857939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121131745A>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Lys930Gln	rs1048389932	missense variant	-	NC_000006.12:g.121131738T>G	TOPMed
TBC1D32	Q96NH3	p.Leu933CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121131728_121131729insTGTAGAAAAC	NCI-TCGA
TBC1D32	Q96NH3	p.Leu935Phe	rs754938090	missense variant	-	NC_000006.12:g.121131723G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile937Val	rs918585761	missense variant	-	NC_000006.12:g.121131717T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile937Leu	rs918585761	missense variant	-	NC_000006.12:g.121131717T>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser938Tyr	rs371231820	missense variant	-	NC_000006.12:g.121131713G>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp939His	rs765820285	missense variant	-	NC_000006.12:g.121131711C>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp939Tyr	rs765820285	missense variant	-	NC_000006.12:g.121131711C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp939Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121131709A>C	NCI-TCGA
TBC1D32	Q96NH3	p.Lys940Thr	rs762544656	missense variant	-	NC_000006.12:g.121131707T>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Trp944Leu	rs772880893	missense variant	-	NC_000006.12:g.121131695C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile945Val	rs1230208795	missense variant	-	NC_000006.12:g.121131693T>C	TOPMed
TBC1D32	Q96NH3	p.Glu946Ala	COSM3429940	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121131689T>G	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Asn947Ser	rs550998385	missense variant	-	NC_000006.12:g.121131686T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Phe952Leu	rs575043241	missense variant	-	NC_000006.12:g.121131670A>T	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Met956Val	rs762140250	missense variant	-	NC_000006.12:g.121131660T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Pro960Leu	rs1471776037	missense variant	-	NC_000006.12:g.121131647G>A	gnomAD
TBC1D32	Q96NH3	p.Asp961Tyr	rs1484951659	missense variant	-	NC_000006.12:g.121131645C>A	TOPMed
TBC1D32	Q96NH3	p.Asp961Val	rs1188412175	missense variant	-	NC_000006.12:g.121131644T>A	gnomAD
TBC1D32	Q96NH3	p.Ile962Thr	rs181607730	missense variant	-	NC_000006.12:g.121131641A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile962Met	rs775594656	missense variant	-	NC_000006.12:g.121131640T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile963Val	rs772079232	missense variant	-	NC_000006.12:g.121131639T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gly965Glu	rs779259082	missense variant	-	NC_000006.12:g.121131632C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu966Val	rs1223141763	missense variant	-	NC_000006.12:g.121131629T>A	gnomAD
TBC1D32	Q96NH3	p.Ala967Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121131627C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Ala967Thr	rs757613099	missense variant	-	NC_000006.12:g.121131627C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ile969Val	rs1035978604	missense variant	-	NC_000006.12:g.121126456T>C	TOPMed
TBC1D32	Q96NH3	p.Ile969Thr	rs981687256	missense variant	-	NC_000006.12:g.121126455A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu972Pro	rs1479179408	missense variant	-	NC_000006.12:g.121126446A>G	TOPMed
TBC1D32	Q96NH3	p.His978Arg	rs1402842378	missense variant	-	NC_000006.12:g.121126428T>C	gnomAD
TBC1D32	Q96NH3	p.Leu979Ile	COSM1440176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121126426G>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu981Ter	rs1022943830	stop gained	-	NC_000006.12:g.121126420C>A	TOPMed
TBC1D32	Q96NH3	p.Ser982Arg	rs768367191	missense variant	-	NC_000006.12:g.121126415G>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser984Tyr	rs1011686211	missense variant	-	NC_000006.12:g.121126410G>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu985Ala	rs893182112	missense variant	-	NC_000006.12:g.121126407T>G	TOPMed
TBC1D32	Q96NH3	p.Cys986Arg	rs182549460	missense variant	-	NC_000006.12:g.121126405A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Cys986Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121126404C>G	NCI-TCGA
TBC1D32	Q96NH3	p.Tyr987Ser	rs779832131	missense variant	-	NC_000006.12:g.121126401T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr987Cys	rs779832131	missense variant	-	NC_000006.12:g.121126401T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Phe988Leu	rs1322389464	missense variant	-	NC_000006.12:g.121126399A>G	TOPMed
TBC1D32	Q96NH3	p.Glu992Lys	rs546076493	missense variant	-	NC_000006.12:g.121126387C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu992Gln	COSM1072755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121126387C>G	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu992Ter	rs546076493	stop gained	-	NC_000006.12:g.121126387C>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr993Cys	rs759423143	missense variant	-	NC_000006.12:g.121126383T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr993Ser	rs759423143	missense variant	-	NC_000006.12:g.121126383T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr994Ile	rs763851253	missense variant	-	NC_000006.12:g.121126380G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala995Asp	rs762919498	missense variant	-	NC_000006.12:g.121115241G>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala995Thr	rs760928119	missense variant	-	NC_000006.12:g.121126378C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr996Ala	rs773398928	missense variant	-	NC_000006.12:g.121115239T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp997Tyr	rs767335733	missense variant	-	NC_000006.12:g.121115236C>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn999Lys	rs1369169198	missense variant	-	NC_000006.12:g.121115228A>C	TOPMed
TBC1D32	Q96NH3	p.Lys1001Arg	rs1395573427	missense variant	-	NC_000006.12:g.121115223T>C	gnomAD
TBC1D32	Q96NH3	p.Asn1002Ser	rs775205468	missense variant	-	NC_000006.12:g.121115220T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu1003Lys	rs1433193861	missense variant	-	NC_000006.12:g.121115218C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu1003Gly	rs576633832	missense variant	-	NC_000006.12:g.121115217T>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser1004Gly	rs1321726204	missense variant	-	NC_000006.12:g.121115215T>C	gnomAD
TBC1D32	Q96NH3	p.Leu1005PhePheSerTerUnk	COSM5091515	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121115215_121115216TT>-	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Leu1005Phe	COSM3620034	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121115212G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser1006Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121115209A>C	NCI-TCGA
TBC1D32	Q96NH3	p.Ser1007Phe	rs745705955	missense variant	-	NC_000006.12:g.121115205G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val1008Gly	rs1022502033	missense variant	-	NC_000006.12:g.121115202A>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val1008Ala	rs1022502033	missense variant	-	NC_000006.12:g.121115202A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val1008Met	rs1424865081	missense variant	-	NC_000006.12:g.121115203C>T	gnomAD
TBC1D32	Q96NH3	p.Gln1009Pro	rs774253203	missense variant	-	NC_000006.12:g.121115199T>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln1009His	rs1249677941	missense variant	-	NC_000006.12:g.121115198C>A	TOPMed
TBC1D32	Q96NH3	p.Gly1012Ser	rs1452269381	missense variant	-	NC_000006.12:g.121115191C>T	TOPMed
TBC1D32	Q96NH3	p.Gly1012Val	rs761539336	missense variant	-	NC_000006.12:g.121115190C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile1013Thr	rs1486711306	missense variant	-	NC_000006.12:g.121115187A>G	gnomAD
TBC1D32	Q96NH3	p.Ile1013Ser	rs1486711306	missense variant	-	NC_000006.12:g.121115187A>C	gnomAD
TBC1D32	Q96NH3	p.Ile1013Val	rs201909100	missense variant	-	NC_000006.12:g.121115188T>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Met1015Val	rs1263653516	missense variant	-	NC_000006.12:g.121115182T>C	gnomAD
TBC1D32	Q96NH3	p.Val1017Ala	rs1244009991	missense variant	-	NC_000006.12:g.121115175A>G	gnomAD
TBC1D32	Q96NH3	p.Arg1018Ser	rs778599694	missense variant	-	NC_000006.12:g.121113177C>A	TOPMed
TBC1D32	Q96NH3	p.Gly1020Cys	rs1167937267	missense variant	-	NC_000006.12:g.121113173C>A	gnomAD
TBC1D32	Q96NH3	p.Gly1020Val	rs1463209065	missense variant	-	NC_000006.12:g.121113172C>A	gnomAD
TBC1D32	Q96NH3	p.Lys1021Arg	rs1375498801	missense variant	-	NC_000006.12:g.121113169T>C	gnomAD
TBC1D32	Q96NH3	p.Phe1022SerPheSerTerUnk	COSM1440175	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121113166A>-	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Phe1022Val	rs1197984247	missense variant	-	NC_000006.12:g.121113167A>C	gnomAD
TBC1D32	Q96NH3	p.Leu1025Phe	rs373991419	missense variant	-	NC_000006.12:g.121113158G>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp1028Glu	rs1429260024	missense variant	-	NC_000006.12:g.121113147A>T	TOPMed
TBC1D32	Q96NH3	p.Asp1028Val	rs1368629911	missense variant	-	NC_000006.12:g.121113148T>A	TOPMed
TBC1D32	Q96NH3	p.Gly1029Ser	rs757341774	missense variant	-	NC_000006.12:g.121113146C>T	ExAC
TBC1D32	Q96NH3	p.Ala1030Ser	rs369614039	missense variant	-	NC_000006.12:g.121113143C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu1031Ter	COSM1072754	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121113140C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu1031Asp	rs1356541043	missense variant	-	NC_000006.12:g.121113138T>G	TOPMed
TBC1D32	Q96NH3	p.Glu1031Gly	rs764300555	missense variant	-	NC_000006.12:g.121113139T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp1033Val	rs376819254	missense variant	-	NC_000006.12:g.121113133T>A	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp1033Glu	rs149431059	missense variant	-	NC_000006.12:g.121113132A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp1033Gly	rs376819254	missense variant	-	NC_000006.12:g.121113133T>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1034Pro	rs1248616746	missense variant	-	NC_000006.12:g.121113130A>G	TOPMed
TBC1D32	Q96NH3	p.Thr1035Ile	rs766219933	missense variant	-	NC_000006.12:g.121113127G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr1035Ser	rs766219933	missense variant	-	NC_000006.12:g.121113127G>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Trp1036Ter	rs773171737	stop gained	-	NC_000006.12:g.121113124C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Trp1036Arg	rs762761578	missense variant	-	NC_000006.12:g.121113125A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Val1037Ile	rs1347739485	missense variant	-	NC_000006.12:g.121113122C>T	gnomAD
TBC1D32	Q96NH3	p.Lys1039Arg	COSM1319160	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121113115T>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.His1040Tyr	rs1336806565	missense variant	-	NC_000006.12:g.121113113G>A	gnomAD
TBC1D32	Q96NH3	p.His1040Pro	rs776347418	missense variant	-	NC_000006.12:g.121113112T>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.His1040Arg	rs776347418	missense variant	-	NC_000006.12:g.121113112T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys1041Tyr	rs768356050	missense variant	-	NC_000006.12:g.121113109C>T	ExAC,TOPMed
TBC1D32	Q96NH3	p.Cys1041Phe	rs768356050	missense variant	-	NC_000006.12:g.121113109C>A	ExAC,TOPMed
TBC1D32	Q96NH3	p.Glu1042Lys	rs746669245	missense variant	-	NC_000006.12:g.121113107C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu1042Gln	rs746669245	missense variant	-	NC_000006.12:g.121113107C>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Phe1044Ser	rs780229548	missense variant	-	NC_000006.12:g.121113100A>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Phe1044Ile	rs951124843	missense variant	-	NC_000006.12:g.121113101A>T	TOPMed
TBC1D32	Q96NH3	p.Gln1048Ter	COSM4912086	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121113089G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Thr1050Ala	rs1445089593	missense variant	-	NC_000006.12:g.121113083T>C	TOPMed
TBC1D32	Q96NH3	p.Ser1051Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121113079G>T	NCI-TCGA
TBC1D32	Q96NH3	p.Ile1052Val	rs1431785300	missense variant	-	NC_000006.12:g.121113077T>C	gnomAD
TBC1D32	Q96NH3	p.Ile1052Thr	rs1469963924	missense variant	-	NC_000006.12:g.121113076A>G	gnomAD
TBC1D32	Q96NH3	p.Lys1053Ter	rs772514749	stop gained	-	NC_000006.12:g.121113074T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Lys1053Glu	rs772514749	missense variant	-	NC_000006.12:g.121113074T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ser1054Thr	rs557939729	missense variant	-	NC_000006.12:g.121113071A>T	1000Genomes,ExAC
TBC1D32	Q96NH3	p.Ser1055Tyr	rs1472227734	missense variant	-	NC_000006.12:g.121113067G>T	gnomAD
TBC1D32	Q96NH3	p.Leu1056Phe	rs779465127	missense variant	-	NC_000006.12:g.121113065G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1056Ile	rs779465127	missense variant	-	NC_000006.12:g.121113065G>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1057Phe	rs757831225	missense variant	-	NC_000006.12:g.121113062G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu1059Arg	rs760360569	missense variant	-	NC_000006.12:g.121112653A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln1060Ter	rs1184219344	stop gained	-	NC_000006.12:g.121112651G>A	gnomAD
TBC1D32	Q96NH3	p.Gly1061Ala	rs199671235	missense variant	-	NC_000006.12:g.121112647C>G	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly1061Arg	rs1462826124	missense variant	-	NC_000006.12:g.121112648C>T	gnomAD
TBC1D32	Q96NH3	p.Gly1061Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121112647C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Asn1062Ser	rs746242313	missense variant	-	NC_000006.12:g.121112644T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn1062Thr	rs746242313	missense variant	-	NC_000006.12:g.121112644T>G	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asn1062His	rs1054333876	missense variant	-	NC_000006.12:g.121112645T>G	TOPMed
TBC1D32	Q96NH3	p.Ala1064Thr	rs375947439	missense variant	-	NC_000006.12:g.121112639C>T	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly1065Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121112635C>T	NCI-TCGA
TBC1D32	Q96NH3	p.His1066Arg	rs371460758	missense variant	-	NC_000006.12:g.121112632T>C	ESP,ExAC,gnomAD
TBC1D32	Q96NH3	p.Trp1068Cys	rs1338414112	missense variant	-	NC_000006.12:g.121112625C>A	TOPMed
TBC1D32	Q96NH3	p.Phe1069Leu	rs1246074652	missense variant	-	NC_000006.12:g.121112624A>G	gnomAD
TBC1D32	Q96NH3	p.Val1070Ala	rs756157845	missense variant	-	NC_000006.12:g.121112620A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Val1070Leu	rs1384620669	missense variant	-	NC_000006.12:g.121112621C>G	gnomAD
TBC1D32	Q96NH3	p.Ser1071Phe	rs748226334	missense variant	-	NC_000006.12:g.121112617G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser1072Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121112614G>A	NCI-TCGA
TBC1D32	Q96NH3	p.Met1075Val	rs757208624	missense variant	-	NC_000006.12:g.121112606T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Met1075Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121112604C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Ile1076Thr	rs1446507526	missense variant	-	NC_000006.12:g.121112602A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile1076Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121112603_121112604insACTTA	NCI-TCGA
TBC1D32	Q96NH3	p.Met1077Ile	rs528372763	missense variant	-	NC_000006.12:g.121112598C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Met1077Ile	rs528372763	missense variant	-	NC_000006.12:g.121112598C>T	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1078Ter	rs764164450	stop gained	-	NC_000006.12:g.121112596A>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gly1079Arg	rs1197715280	missense variant	-	NC_000006.12:g.121112594C>T	TOPMed
TBC1D32	Q96NH3	p.Lys1081Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121112587T>G	NCI-TCGA
TBC1D32	Q96NH3	p.Thr1084Ala	rs1219742721	missense variant	-	NC_000006.12:g.121112579T>C	gnomAD
TBC1D32	Q96NH3	p.Phe1085Leu	rs1254519873	missense variant	-	NC_000006.12:g.121112576A>G	TOPMed
TBC1D32	Q96NH3	p.Phe1085Leu	rs374536754	missense variant	-	NC_000006.12:g.121112574G>T	ESP,gnomAD
TBC1D32	Q96NH3	p.Gln1086Arg	rs760237654	missense variant	-	NC_000006.12:g.121112572T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln1086His	rs560574202	missense variant	-	NC_000006.12:g.121112571T>G	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Phe1087Leu	rs199840167	missense variant	-	NC_000006.12:g.121112568A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1088His	rs1213648784	missense variant	-	NC_000006.12:g.121112566A>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1088Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121112567G>C	NCI-TCGA
TBC1D32	Q96NH3	p.His1089Leu	rs1408694649	missense variant	-	NC_000006.12:g.121112563T>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln1090Ter	rs774731973	stop gained	-	NC_000006.12:g.121112561G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Phe1091Leu	COSM1072753	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121112556G>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Arg1093Ser	rs201382292	missense variant	-	NC_000006.12:g.121112550C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg1093Thr	rs1344867814	missense variant	-	NC_000006.12:g.121112551C>G	gnomAD
TBC1D32	Q96NH3	p.Arg1093Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121112551C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Leu1095Pro	rs200575069	missense variant	-	NC_000006.12:g.121112545A>G	1000Genomes
TBC1D32	Q96NH3	p.Thr1096Ser	rs999332096	missense variant	-	NC_000006.12:g.121112542G>C	TOPMed
TBC1D32	Q96NH3	p.Ala1098Ser	rs749695630	missense variant	-	NC_000006.12:g.121112537C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ala1098Thr	rs749695630	missense variant	-	NC_000006.12:g.121112537C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1100Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121112531G>A	NCI-TCGA
TBC1D32	Q96NH3	p.Trp1101Ter	rs1337653878	stop gained	-	NC_000006.12:g.121112527C>T	gnomAD
TBC1D32	Q96NH3	p.Leu1102Trp	rs770341437	missense variant	-	NC_000006.12:g.121112524A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Pro1103Leu	rs748253784	missense variant	-	NC_000006.12:g.121112521G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg1104Thr	rs182057696	missense variant	-	NC_000006.12:g.121112518C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1105Pro	rs755170219	missense variant	-	NC_000006.12:g.121112515A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.His1106Arg	rs373972495	missense variant	-	NC_000006.12:g.121112512T>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile1107Val	rs778807503	missense variant	-	NC_000006.12:g.121112510T>C	ExAC
TBC1D32	Q96NH3	p.Ser1108Phe	rs757083944	missense variant	-	NC_000006.12:g.121112506G>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser1109Asn	rs1480659899	missense variant	-	NC_000006.12:g.121106162C>T	gnomAD
TBC1D32	Q96NH3	p.Tyr1110Ter	rs1162675520	stop gained	-	NC_000006.12:g.121106158G>C	TOPMed
TBC1D32	Q96NH3	p.Tyr1110Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.121106158_121106159insCTTAATGT	NCI-TCGA
TBC1D32	Q96NH3	p.Leu1111Phe	rs1391524681	missense variant	-	NC_000006.12:g.121106157G>A	TOPMed
TBC1D32	Q96NH3	p.Leu1111Arg	rs747148711	missense variant	-	NC_000006.12:g.121106156A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn1113Asp	rs777727212	missense variant	-	NC_000006.12:g.121106151T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn1113Ile	rs1225111133	missense variant	-	NC_000006.12:g.121106150T>A	gnomAD
TBC1D32	Q96NH3	p.Asn1113His	rs777727212	missense variant	-	NC_000006.12:g.121106151T>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr1115Ala	rs752612084	missense variant	-	NC_000006.12:g.121106145T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu1117Ter	COSM1072752	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121106139C>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ser1118Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121106136A>T	NCI-TCGA
TBC1D32	Q96NH3	p.Gly1119Asp	rs1375662511	missense variant	-	NC_000006.12:g.121106132C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gly1119Val	rs1375662511	missense variant	-	NC_000006.12:g.121106132C>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val1123Leu	rs754426012	missense variant	-	NC_000006.12:g.121106121C>A	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Val1123Ile	rs754426012	missense variant	-	NC_000006.12:g.121106121C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Cys1126Phe	rs575799780	missense variant	-	NC_000006.12:g.121106111C>A	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys1126Arg	rs1482111312	missense variant	-	NC_000006.12:g.121106112A>G	gnomAD
TBC1D32	Q96NH3	p.Thr1128Ala	rs750727198	missense variant	-	NC_000006.12:g.121106106T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.His1129Arg	rs1252689142	missense variant	-	NC_000006.12:g.121106102T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr1130Phe	rs1283163454	missense variant	-	NC_000006.12:g.121106099T>A	TOPMed
TBC1D32	Q96NH3	p.Tyr1130His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121106100A>G	NCI-TCGA
TBC1D32	Q96NH3	p.Ile1131Val	rs1017804004	missense variant	-	NC_000006.12:g.121106097T>C	TOPMed
TBC1D32	Q96NH3	p.Ile1131Thr	rs1160427319	missense variant	-	NC_000006.12:g.121106096A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Glu1132Ter	rs1421356186	stop gained	-	NC_000006.12:g.121106094C>A	gnomAD
TBC1D32	Q96NH3	p.Met1133Ile	rs1271982673	missense variant	-	NC_000006.12:g.121106089C>T	TOPMed
TBC1D32	Q96NH3	p.Lys1136Ter	COSM2156732	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121106082T>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ala1137Thr	rs765542061	missense variant	-	NC_000006.12:g.121106079C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Glu1138Lys	rs776968575	missense variant	-	NC_000006.12:g.121106076C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1139Trp	rs1205386375	missense variant	-	NC_000006.12:g.121106072A>C	gnomAD
TBC1D32	Q96NH3	p.Pro1140Ser	rs1205528627	missense variant	-	NC_000006.12:g.121106070G>A	TOPMed
TBC1D32	Q96NH3	p.Val1142Leu	rs202106970	missense variant	-	NC_000006.12:g.121106064C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser1144Ala	rs1259890893	missense variant	-	NC_000006.12:g.121106058A>C	gnomAD
TBC1D32	Q96NH3	p.Ser1144Ter	rs950969280	stop gained	-	NC_000006.12:g.121106057G>C	gnomAD
TBC1D32	Q96NH3	p.Ser1144Leu	rs950969280	missense variant	-	NC_000006.12:g.121106057G>A	gnomAD
TBC1D32	Q96NH3	p.His1147Leu	rs760655363	missense variant	-	NC_000006.12:g.121106048T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Met1148Val	rs772366152	missense variant	-	NC_000006.12:g.121106046T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Met1148Ile	rs746118796	missense variant	-	NC_000006.12:g.121106044C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ser1149Phe	rs777675910	missense variant	-	NC_000006.12:g.121106042G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala1152Thr	rs1433399173	missense variant	-	NC_000006.12:g.121106034C>T	gnomAD
TBC1D32	Q96NH3	p.Ala1152Val	rs1384737979	missense variant	-	NC_000006.12:g.121106033G>A	gnomAD
TBC1D32	Q96NH3	p.Pro1153Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121106030G>T	NCI-TCGA
TBC1D32	Q96NH3	p.Ser1154Ala	COSM1072751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121106028A>C	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Gln1155His	rs1166972364	missense variant	-	NC_000006.12:g.121106023C>G	TOPMed
TBC1D32	Q96NH3	p.Gln1155Ter	rs1369164391	stop gained	-	NC_000006.12:g.121106025G>A	TOPMed
TBC1D32	Q96NH3	p.Ile1161Leu	rs776487629	missense variant	-	NC_000006.12:g.121091026T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr1162Ile	COSM3857937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121091022G>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Cys1164Tyr	rs1339046853	missense variant	-	NC_000006.12:g.121091016C>T	gnomAD
TBC1D32	Q96NH3	p.Trp1166GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.121091011A>-	NCI-TCGA
TBC1D32	Q96NH3	p.Asp1170Tyr	rs1230131624	missense variant	-	NC_000006.12:g.121090999C>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp1170Glu	rs746970154	missense variant	-	NC_000006.12:g.121090997A>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Trp1171Cys	rs1282987120	missense variant	-	NC_000006.12:g.121090994C>A	gnomAD
TBC1D32	Q96NH3	p.Trp1171Ter	rs994830643	stop gained	-	NC_000006.12:g.121090995C>T	TOPMed
TBC1D32	Q96NH3	p.Ile1172Thr	rs779498885	missense variant	-	NC_000006.12:g.121090992A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys1175Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121090983C>A	NCI-TCGA
TBC1D32	Q96NH3	p.His1176Arg	rs757868336	missense variant	-	NC_000006.12:g.121090980T>C	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile1178Val	rs1389157171	missense variant	-	NC_000006.12:g.121090975T>C	gnomAD
TBC1D32	Q96NH3	p.Thr1180Ala	rs897389591	missense variant	-	NC_000006.12:g.121090969T>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Thr1180Ile	rs118077502	missense variant	-	NC_000006.12:g.121090968G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Cys1181Tyr	rs764544938	missense variant	-	NC_000006.12:g.121090965C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Cys1181Arg	rs1463162821	missense variant	-	NC_000006.12:g.121090966A>G	gnomAD
TBC1D32	Q96NH3	p.Phe1183Tyr	rs1175370345	missense variant	-	NC_000006.12:g.121090959A>T	gnomAD
TBC1D32	Q96NH3	p.Phe1183Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121090960A>G	NCI-TCGA
TBC1D32	Q96NH3	p.Pro1186Thr	rs999755951	missense variant	-	NC_000006.12:g.121090951G>T	-
TBC1D32	Q96NH3	p.Asp1187Val	COSM268814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121090947T>A	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Asp1187Asn	rs753228834	missense variant	-	NC_000006.12:g.121090948C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Gln1189Arg	rs186680563	missense variant	-	NC_000006.12:g.121090941T>C	1000Genomes,ExAC,gnomAD
TBC1D32	Q96NH3	p.Val1190Leu	rs1437284313	missense variant	-	NC_000006.12:g.121090939C>A	gnomAD
TBC1D32	Q96NH3	p.Tyr1191Cys	rs377128385	missense variant	-	NC_000006.12:g.121090935T>C	ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile1192Ser	rs552597781	missense variant	-	NC_000006.12:g.121090932A>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Ile1192Met	rs1164567807	missense variant	-	NC_000006.12:g.121090931G>C	TOPMed
TBC1D32	Q96NH3	p.Val1196Ala	rs1460106292	missense variant	-	NC_000006.12:g.121090920A>G	gnomAD
TBC1D32	Q96NH3	p.Phe1197Cys	rs1224501224	missense variant	-	NC_000006.12:g.121090917A>C	gnomAD
TBC1D32	Q96NH3	p.Phe1197Leu	rs766446129	missense variant	-	NC_000006.12:g.121090918A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.His1199Leu	rs763248088	missense variant	-	NC_000006.12:g.121090911T>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Leu1200Ser	rs372829056	missense variant	-	NC_000006.12:g.121090908A>G	ESP,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln1202Ter	rs1328888593	stop gained	-	NC_000006.12:g.121090903G>A	gnomAD
TBC1D32	Q96NH3	p.Ile1204Val	rs1448546265	missense variant	-	NC_000006.12:g.121090897T>C	gnomAD
TBC1D32	Q96NH3	p.Leu1205Pro	rs1403435593	missense variant	-	NC_000006.12:g.121090893A>G	gnomAD
TBC1D32	Q96NH3	p.Gln1206Ter	rs1335822652	stop gained	-	NC_000006.12:g.121090891G>A	TOPMed
TBC1D32	Q96NH3	p.Gln1209His	rs1470105093	missense variant	-	NC_000006.12:g.121090880C>A	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Asp1212Asn	rs746846120	missense variant	-	NC_000006.12:g.121090873C>T	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp1212Tyr	rs746846120	missense variant	-	NC_000006.12:g.121090873C>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asp1212Glu	rs1469524884	missense variant	-	NC_000006.12:g.121090871A>C	gnomAD
TBC1D32	Q96NH3	p.Asp1212Gly	rs1268503144	missense variant	-	NC_000006.12:g.121090872T>C	TOPMed
TBC1D32	Q96NH3	p.Val1215Ile	rs369359139	missense variant	-	NC_000006.12:g.121090864C>T	ESP,ExAC,gnomAD
TBC1D32	Q96NH3	p.Phe1216Ser	rs772052026	missense variant	-	NC_000006.12:g.121090860A>G	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ala1221Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121080884C>A	NCI-TCGA
TBC1D32	Q96NH3	p.Leu1222Pro	rs1385569598	missense variant	-	NC_000006.12:g.121080880A>G	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Leu1222Arg	rs1385569598	missense variant	-	NC_000006.12:g.121080880A>C	TOPMed,gnomAD
TBC1D32	Q96NH3	p.His1223Tyr	rs200000443	missense variant	-	NC_000006.12:g.121080878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg1226Ter	rs1353651641	stop gained	-	NC_000006.12:g.121080869G>A	TOPMed
TBC1D32	Q96NH3	p.Val1227Leu	rs1184473233	missense variant	-	NC_000006.12:g.121080866C>A	gnomAD
TBC1D32	Q96NH3	p.Asp1229Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121080859T>C	NCI-TCGA
TBC1D32	Q96NH3	p.Glu1232Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121080851C>T	NCI-TCGA
TBC1D32	Q96NH3	p.Glu1232Gln	COSM6104752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.121080851C>G	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Glu1232Ala	rs56300302	missense variant	-	NC_000006.12:g.121080850T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Tyr1233Ser	rs1286930246	missense variant	-	NC_000006.12:g.121080847T>G	gnomAD
TBC1D32	Q96NH3	p.Met1234Lys	rs201112310	missense variant	-	NC_000006.12:g.121080844A>T	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Met1234Val	rs1356685273	missense variant	-	NC_000006.12:g.121080845T>C	gnomAD
TBC1D32	Q96NH3	p.Glu1238Gly	rs770444598	missense variant	-	NC_000006.12:g.121080832T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Asn1240Thr	rs1268273532	missense variant	-	NC_000006.12:g.121080826T>G	gnomAD
TBC1D32	Q96NH3	p.Arg1242Ter	rs748798523	stop gained	-	NC_000006.12:g.121080821G>A	ExAC,gnomAD
TBC1D32	Q96NH3	p.Thr1243Ala	rs1327000463	missense variant	-	NC_000006.12:g.121080818T>C	gnomAD
TBC1D32	Q96NH3	p.Asp1248Val	rs1365059128	missense variant	-	NC_000006.12:g.121080802T>A	gnomAD
TBC1D32	Q96NH3	p.Asp1248Asn	rs769641525	missense variant	-	NC_000006.12:g.121080803C>T	ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg1250Gln	rs141535369	missense variant	-	NC_000006.12:g.121080796C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg1250Gly	rs564250621	missense variant	-	NC_000006.12:g.121080797G>C	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg1250Trp	rs564250621	missense variant	-	NC_000006.12:g.121080797G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg1250Leu	rs141535369	missense variant	-	NC_000006.12:g.121080796C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBC1D32	Q96NH3	p.Arg1253Gly	rs780461716	missense variant	-	NC_000006.12:g.121080788T>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Arg1253Lys	rs1265748300	missense variant	-	NC_000006.12:g.121080787C>T	TOPMed,gnomAD
TBC1D32	Q96NH3	p.Gln1255His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.121080780C>G	NCI-TCGA
TBC1D32	Q96NH3	p.Thr1257Ile	rs1197920229	missense variant	-	NC_000006.12:g.121080775G>A	gnomAD
TBC1D32	Q96NH3	p.Ter1258Glu	rs758477548	stop lost	-	NC_000006.12:g.121080773A>C	ExAC,gnomAD
TBC1D32	Q96NH3	p.Ter1258LysGluUnkThrTerUnkUnk	COSM79440	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.121080773A>T	NCI-TCGA Cosmic
TBC1D32	Q96NH3	p.Ter1258Gln	rs758477548	stop lost	-	NC_000006.12:g.121080773A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Ala2Val	rs1293990602	missense variant	-	NC_000004.12:g.129093099G>A	gnomAD
SCLT1	Q96NL6	p.Ala3Val	rs1294881791	missense variant	-	NC_000004.12:g.129093096G>A	gnomAD
SCLT1	Q96NL6	p.Ala3Thr	rs1324626785	missense variant	-	NC_000004.12:g.129093097C>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile5Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129093089G>C	NCI-TCGA
SCLT1	Q96NL6	p.Leu8Met	rs748671223	missense variant	-	NC_000004.12:g.129093082G>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Leu8Val	rs748671223	missense variant	-	NC_000004.12:g.129093082G>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg9Thr	rs1403847529	missense variant	-	NC_000004.12:g.129093078C>G	gnomAD
SCLT1	Q96NL6	p.Arg9Ter	rs1298297561	stop gained	-	NC_000004.12:g.129093079T>A	gnomAD
SCLT1	Q96NL6	p.Glu10Lys	rs781691952	missense variant	-	NC_000004.12:g.129093076C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Gln11Glu	rs1294991891	missense variant	-	NC_000004.12:g.129093073G>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Asn12His	COSM1051203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.129093070T>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Arg13Ter	rs201848700	stop gained	-	NC_000004.12:g.129082371G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg13Gln	rs375916585	missense variant	-	NC_000004.12:g.129082370C>T	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg13Gly	rs201848700	missense variant	-	NC_000004.12:g.129082371G>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg14Lys	rs144317377	missense variant	-	NC_000004.12:g.129082367C>T	1000Genomes,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asn16Asp	rs1180862857	missense variant	-	NC_000004.12:g.129082362T>C	gnomAD
SCLT1	Q96NL6	p.Asn16Ser	rs757220816	missense variant	-	NC_000004.12:g.129082361T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu17Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129082358T>G	NCI-TCGA
SCLT1	Q96NL6	p.Arg20Thr	rs946175004	missense variant	-	NC_000004.12:g.129082349C>G	gnomAD
SCLT1	Q96NL6	p.Arg21Trp	rs536017829	missense variant	-	NC_000004.12:g.129082347G>A	1000Genomes,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg21Gln	rs574668445	missense variant	-	NC_000004.12:g.129082346C>T	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.Gln23His	rs149592900	missense variant	-	NC_000004.12:g.129082339T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln23Glu	rs1233402899	missense variant	-	NC_000004.12:g.129082341G>C	gnomAD
SCLT1	Q96NL6	p.Phe27Ser	rs767140889	missense variant	-	NC_000004.12:g.129082328A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser28Pro	rs759232942	missense variant	-	NC_000004.12:g.129082326A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys29Glu	rs1335930756	missense variant	-	NC_000004.12:g.129082323T>C	gnomAD
SCLT1	Q96NL6	p.Tyr30Asn	rs1394622577	missense variant	-	NC_000004.12:g.129082320A>T	TOPMed
SCLT1	Q96NL6	p.Ser32Phe	rs777202527	missense variant	-	NC_000004.12:g.129082313G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser32Phe	rs777202527	missense variant	-	NC_000004.12:g.129082313G>A	NCI-TCGA
SCLT1	Q96NL6	p.Gln34Ter	rs769113147	stop gained	-	NC_000004.12:g.129082308G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln34Leu	rs747101295	missense variant	-	NC_000004.12:g.129082307T>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Ala36Thr	rs1488402506	missense variant	-	NC_000004.12:g.129044048C>T	gnomAD
SCLT1	Q96NL6	p.Val37Ile	rs1226391945	missense variant	-	NC_000004.12:g.129044045C>T	gnomAD
SCLT1	Q96NL6	p.Cys38Phe	rs779281649	missense variant	-	NC_000004.12:g.129044041C>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gly40Arg	rs1284648341	missense variant	-	NC_000004.12:g.129044036C>T	gnomAD
SCLT1	Q96NL6	p.Gly40Ala	rs1259608509	missense variant	-	NC_000004.12:g.129044035C>G	TOPMed
SCLT1	Q96NL6	p.Glu41Asp	rs771124477	missense variant	-	NC_000004.12:g.129044031T>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Gly42Arg	rs749094740	missense variant	-	NC_000004.12:g.129044030C>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Gly42Arg	rs749094740	missense variant	-	NC_000004.12:g.129044030C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Gly42Val	rs1300140514	missense variant	-	NC_000004.12:g.129044029C>A	gnomAD
SCLT1	Q96NL6	p.Gly42Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129044029C>T	NCI-TCGA
SCLT1	Q96NL6	p.Asp44Asn	rs149071636	missense variant	-	NC_000004.12:g.129044024C>T	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asp44Gly	rs752603981	missense variant	-	NC_000004.12:g.129044023T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Leu49Arg	rs780628070	missense variant	-	NC_000004.12:g.129044008A>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser54Arg	rs377339822	missense variant	-	NC_000004.12:g.129043467G>C	ESP,ExAC,gnomAD
SCLT1	Q96NL6	p.Leu56Ter	NCI-TCGA novel	frameshift	-	NC_000004.12:g.129043462A>-	NCI-TCGA
SCLT1	Q96NL6	p.Leu59Val	rs773016386	missense variant	-	NC_000004.12:g.129043454G>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Val60Ile	rs1189057720	missense variant	-	NC_000004.12:g.129043451C>T	gnomAD
SCLT1	Q96NL6	p.Tyr63Cys	rs769495312	missense variant	-	NC_000004.12:g.129043441T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.His66Gln	rs936727509	missense variant	-	NC_000004.12:g.129043431G>C	TOPMed
SCLT1	Q96NL6	p.His66Pro	rs1246974579	missense variant	-	NC_000004.12:g.129043432T>G	gnomAD
SCLT1	Q96NL6	p.Glu69Lys	rs1259848461	missense variant	-	NC_000004.12:g.129043424C>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu69Gln	rs1259848461	missense variant	-	NC_000004.12:g.129043424C>G	TOPMed,gnomAD
SCLT1	Q96NL6	p.Asn71Thr	rs199568333	missense variant	-	NC_000004.12:g.129043417T>G	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.Asn71Ser	rs199568333	missense variant	-	NC_000004.12:g.129043417T>C	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.Gln73Arg	rs531089098	missense variant	-	NC_000004.12:g.129043411T>C	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.Gln73Pro	rs531089098	missense variant	-	NC_000004.12:g.129043411T>G	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.Val81Leu	rs768552071	missense variant	-	NC_000004.12:g.129039090C>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Val81Ala	rs1262603971	missense variant	-	NC_000004.12:g.129039089A>G	gnomAD
SCLT1	Q96NL6	p.Gly82Val	rs1214660773	missense variant	-	NC_000004.12:g.129039086C>A	gnomAD
SCLT1	Q96NL6	p.Gly82Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129039086C>G	NCI-TCGA
SCLT1	Q96NL6	p.Glu83Gly	rs1489379908	missense variant	-	NC_000004.12:g.129039083T>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Met84Ile	rs936400966	missense variant	-	NC_000004.12:g.129039079C>A	gnomAD
SCLT1	Q96NL6	p.Met84Val	rs1462401617	missense variant	-	NC_000004.12:g.129039081T>C	TOPMed
SCLT1	Q96NL6	p.Val91Ile	rs370155503	missense variant	-	NC_000004.12:g.129039060C>T	ESP,ExAC,gnomAD
SCLT1	Q96NL6	p.Ile92Val	rs757861062	missense variant	-	NC_000004.12:g.129039057T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys93Asn	rs1276998431	missense variant	-	NC_000004.12:g.129039052C>G	gnomAD
SCLT1	Q96NL6	p.Glu96Gln	rs745457179	missense variant	-	NC_000004.12:g.129039045C>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu96Lys	rs745457179	missense variant	-	NC_000004.12:g.129039045C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.His99Pro	rs1329173593	missense variant	-	NC_000004.12:g.129003871T>G	gnomAD
SCLT1	Q96NL6	p.His99Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129003871T>C	NCI-TCGA
SCLT1	Q96NL6	p.Ser100Cys	rs1448932066	missense variant	-	NC_000004.12:g.129003869T>A	gnomAD
SCLT1	Q96NL6	p.Ser100Asn	rs201035426	missense variant	-	NC_000004.12:g.129003868C>T	1000Genomes,gnomAD
SCLT1	Q96NL6	p.Ser100Gly	rs1448932066	missense variant	-	NC_000004.12:g.129003869T>C	gnomAD
SCLT1	Q96NL6	p.Leu102Ter	COSM1427038	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.129003862A>C	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Lys103Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129003859T>C	NCI-TCGA
SCLT1	Q96NL6	p.Asp104Glu	rs115856712	missense variant	-	NC_000004.12:g.129003855A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Val106Phe	rs1268591658	missense variant	-	NC_000004.12:g.129003851C>A	TOPMed
SCLT1	Q96NL6	p.Val106Ala	rs758996684	missense variant	-	NC_000004.12:g.129003850A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu107Gly	rs765333832	missense variant	-	NC_000004.12:g.129003847T>C	ExAC
SCLT1	Q96NL6	p.Lys109Arg	rs754073526	missense variant	-	NC_000004.12:g.129003841T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys109Gln	rs376838042	missense variant	-	NC_000004.12:g.129003842T>G	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys109AsnPheSerTerUnkUnk	COSM4747873	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.129003840T>-	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Lys109Ile	rs754073526	missense variant	-	NC_000004.12:g.129003841T>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Leu110Phe	rs1181001337	missense variant	-	NC_000004.12:g.129003837C>G	TOPMed,gnomAD
SCLT1	Q96NL6	p.Phe113Ile	rs372125375	missense variant	-	NC_000004.12:g.129003830A>T	ESP,TOPMed,gnomAD
SCLT1	Q96NL6	p.Pro114Ser	COSM3600261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.129003827G>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Gly116Ser	rs775412992	missense variant	-	NC_000004.12:g.129003821C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Gly116Val	rs368566116	missense variant	-	NC_000004.12:g.129003820C>A	ESP,ExAC,gnomAD
SCLT1	Q96NL6	p.Gly116AlaPheSerTerUnk	COSM1051195	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.129003820C>-	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Gly116Asp	rs368566116	missense variant	-	NC_000004.12:g.129003820C>T	ESP,ExAC,gnomAD
SCLT1	Q96NL6	p.Glu118Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129003815C>G	NCI-TCGA
SCLT1	Q96NL6	p.Thr121Ser	rs374599412	missense variant	-	NC_000004.12:g.129003805G>C	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr121Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129003806T>A	NCI-TCGA
SCLT1	Q96NL6	p.Thr121Ile	rs374599412	missense variant	-	NC_000004.12:g.129003805G>A	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile123Met	rs777569625	missense variant	-	NC_000004.12:g.129003798T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Ile123Val	rs147766080	missense variant	-	NC_000004.12:g.129003800T>C	ESP,ExAC,gnomAD
SCLT1	Q96NL6	p.Ala125Val	rs769631634	missense variant	-	NC_000004.12:g.129003793G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Asp126Tyr	rs1024251445	missense variant	-	NC_000004.12:g.129003791C>A	TOPMed,gnomAD
SCLT1	Q96NL6	p.Asp126Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129003791C>T	NCI-TCGA
SCLT1	Q96NL6	p.Asp127Gly	rs145700085	missense variant	-	NC_000004.12:g.129003787T>C	ESP,ExAC,gnomAD
SCLT1	Q96NL6	p.Thr129Ile	rs758794944	missense variant	-	NC_000004.12:g.129003781G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Val130Phe	rs1378756740	missense variant	-	NC_000004.12:g.129003779C>A	gnomAD
SCLT1	Q96NL6	p.Val130Gly	rs1326799160	missense variant	-	NC_000004.12:g.129003778A>C	TOPMed
SCLT1	Q96NL6	p.Arg131Lys	rs553825676	missense variant	-	NC_000004.12:g.129003775C>T	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.Asn132Lys	rs1368388062	missense variant	-	NC_000004.12:g.129003771G>T	gnomAD
SCLT1	Q96NL6	p.Gln134Arg	COSM1427036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.129003766T>C	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Glu135Gly	rs200203353	missense variant	-	NC_000004.12:g.129003763T>C	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.Gln138Lys	rs757334247	missense variant	-	NC_000004.12:g.129003755G>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln138Ter	rs757334247	stop gained	-	NC_000004.12:g.129003755G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Leu139Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.129003751A>G	NCI-TCGA
SCLT1	Q96NL6	p.Ala140Thr	rs373839589	missense variant	-	NC_000004.12:g.129003749C>T	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu143Ter	rs1218078886	stop gained	-	NC_000004.12:g.128999794C>A	gnomAD
SCLT1	Q96NL6	p.Glu143Val	rs1338538846	missense variant	-	NC_000004.12:g.128999793T>A	gnomAD
SCLT1	Q96NL6	p.Lys144Asn	rs1280264324	missense variant	-	NC_000004.12:g.128999789T>A	TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr145Ala	rs375430672	missense variant	-	NC_000004.12:g.128999788T>C	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr145LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.128999788T>-	NCI-TCGA
SCLT1	Q96NL6	p.Thr145Ile	rs1242854875	missense variant	-	NC_000004.12:g.128999787G>A	gnomAD
SCLT1	Q96NL6	p.Thr145Ser	rs375430672	missense variant	-	NC_000004.12:g.128999788T>A	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln146Pro	rs752982665	missense variant	-	NC_000004.12:g.128999784T>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Ala147Gly	rs1395837611	missense variant	-	NC_000004.12:g.128999781G>C	gnomAD
SCLT1	Q96NL6	p.Ala147Ser	rs754803117	missense variant	-	NC_000004.12:g.128999782C>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Val148Met	rs766401248	missense variant	-	NC_000004.12:g.128999779C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Val148Leu	rs766401248	missense variant	-	NC_000004.12:g.128999779C>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu149Gly	rs763028027	missense variant	-	NC_000004.12:g.128999775T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu149Asp	rs140181990	missense variant	-	NC_000004.12:g.128999774T>A	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Leu150Phe	rs764827774	missense variant	-	NC_000004.12:g.128999773G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Leu150Val	rs764827774	missense variant	-	NC_000004.12:g.128999773G>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Thr153Ala	rs761315097	missense variant	-	NC_000004.12:g.128999764T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Val154Ile	rs1253487887	missense variant	-	NC_000004.12:g.128999761C>T	gnomAD
SCLT1	Q96NL6	p.Gln156Arg	rs1197942378	missense variant	-	NC_000004.12:g.128999754T>C	gnomAD
SCLT1	Q96NL6	p.Glu157Ter	rs768260860	stop gained	-	NC_000004.12:g.128999752C>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Leu161Val	rs574119600	missense variant	-	NC_000004.12:g.128999740G>C	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.His162Pro	rs1344572800	missense variant	-	NC_000004.12:g.128999736T>G	gnomAD
SCLT1	Q96NL6	p.Lys163Arg	rs374660146	missense variant	-	NC_000004.12:g.128999733T>C	ESP,ExAC
SCLT1	Q96NL6	p.Leu164Phe	rs777780729	missense variant	-	NC_000004.12:g.128999731G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Tyr165Cys	rs748250486	missense variant	-	NC_000004.12:g.128999727T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Gln166Ter	rs755209938	stop gained	-	NC_000004.12:g.128999725G>A	ExAC
SCLT1	Q96NL6	p.Glu167Lys	rs751372820	missense variant	-	NC_000004.12:g.128999722C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.His168Arg	rs1369287989	missense variant	-	NC_000004.12:g.128999718T>C	TOPMed
SCLT1	Q96NL6	p.Gln173Ter	COSM4122245	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128999704G>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Gln173His	rs1171871118	missense variant	-	NC_000004.12:g.128999702C>A	gnomAD
SCLT1	Q96NL6	p.His175Arg	rs780031158	missense variant	-	NC_000004.12:g.128999697T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.His175Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128999698G>A	NCI-TCGA
SCLT1	Q96NL6	p.Phe177Leu	rs200312901	missense variant	-	NC_000004.12:g.128999690A>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Phe177Leu	rs1424018392	missense variant	-	NC_000004.12:g.128999692A>G	gnomAD
SCLT1	Q96NL6	p.Glu178Asp	rs750403375	missense variant	-	NC_000004.12:g.128999687T>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu178Gly	rs1395493008	missense variant	-	NC_000004.12:g.128999688T>C	gnomAD
SCLT1	Q96NL6	p.Gln180Arg	rs142407438	missense variant	-	NC_000004.12:g.128999682T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln182Glu	COSM72552	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128999677G>C	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Lys183Met	rs1234597231	missense variant	-	NC_000004.12:g.128999673T>A	gnomAD
SCLT1	Q96NL6	p.Phe187Ser	rs770309572	missense variant	-	NC_000004.12:g.128997929A>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Phe187Cys	rs770309572	missense variant	-	NC_000004.12:g.128997929A>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Phe189Ile	rs369526908	missense variant	-	NC_000004.12:g.128997924A>T	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Phe189Leu	rs369526908	missense variant	-	NC_000004.12:g.128997924A>G	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln191Leu	rs768874682	missense variant	-	NC_000004.12:g.128997917T>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln191Arg	rs768874682	missense variant	-	NC_000004.12:g.128997917T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr193Ala	rs780420215	missense variant	-	NC_000004.12:g.128997912T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Leu196Ile	rs1430192403	missense variant	-	NC_000004.12:g.128997903G>T	TOPMed
SCLT1	Q96NL6	p.His197Gln	rs1221358723	missense variant	-	NC_000004.12:g.128997898A>T	gnomAD
SCLT1	Q96NL6	p.Glu201Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128997886C>G	NCI-TCGA
SCLT1	Q96NL6	p.Met203Thr	rs757176446	missense variant	-	NC_000004.12:g.128997881A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Met203Leu	rs778612185	missense variant	-	NC_000004.12:g.128997882T>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Met203Val	rs778612185	missense variant	-	NC_000004.12:g.128997882T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu204Lys	rs1234526423	missense variant	-	NC_000004.12:g.128997879C>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu204Gly	rs749205253	missense variant	-	NC_000004.12:g.128997878T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Thr206Ile	rs1169760672	missense variant	-	NC_000004.12:g.128992236G>A	TOPMed
SCLT1	Q96NL6	p.Gln208Arg	rs762327822	missense variant	-	NC_000004.12:g.128992230T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Gln209Arg	rs777011502	missense variant	-	NC_000004.12:g.128992227T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Leu211Pro	rs1463113313	missense variant	-	NC_000004.12:g.128992221A>G	TOPMed
SCLT1	Q96NL6	p.Lys212Arg	rs764765177	missense variant	-	NC_000004.12:g.128992218T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Thr213Ile	rs760824351	missense variant	-	NC_000004.12:g.128992215G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr215Ala	rs1394469282	missense variant	-	NC_000004.12:g.128992210T>C	TOPMed
SCLT1	Q96NL6	p.Gln217Lys	rs772393955	missense variant	-	NC_000004.12:g.128992204G>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser218Thr	COSM4122243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128992200C>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Val219Ala	rs199943075	missense variant	-	NC_000004.12:g.128992197A>G	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile221Ser	rs774145943	missense variant	-	NC_000004.12:g.128992191A>C	ExAC
SCLT1	Q96NL6	p.Ile221Met	rs13151322	missense variant	-	NC_000004.12:g.128992190G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu222Lys	rs777678930	missense variant	-	NC_000004.12:g.128992189C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg225Ter	rs202057318	stop gained	-	NC_000004.12:g.128992180G>A	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg225Gln	rs747632827	missense variant	-	NC_000004.12:g.128992179C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys227AsnPheSerTerUnk	COSM1618375	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128992172T>-	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Leu228Arg	COSM257956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128992170A>C	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Arg229Met	rs1481337872	missense variant	-	NC_000004.12:g.128992167C>A	gnomAD
SCLT1	Q96NL6	p.Arg229Lys	rs1481337872	missense variant	-	NC_000004.12:g.128992167C>T	gnomAD
SCLT1	Q96NL6	p.Gln230Glu	rs1211317269	missense variant	-	NC_000004.12:g.128970467G>C	gnomAD
SCLT1	Q96NL6	p.Ala231Asp	rs932573755	missense variant	-	NC_000004.12:g.128970463G>T	gnomAD
SCLT1	Q96NL6	p.Ala231Thr	rs1470771874	missense variant	-	NC_000004.12:g.128970464C>T	gnomAD
SCLT1	Q96NL6	p.Glu234Asp	rs771247745	missense variant	-	NC_000004.12:g.128970453C>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu234Ter	rs1277657521	stop gained	-	NC_000004.12:g.128970455C>A	gnomAD
SCLT1	Q96NL6	p.Glu234Gln	COSM3825189	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128970455C>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Val237Ala	rs112139528	missense variant	-	NC_000004.12:g.128970445A>G	TOPMed
SCLT1	Q96NL6	p.Val239Ile	rs921156011	missense variant	-	NC_000004.12:g.128970440C>T	TOPMed
SCLT1	Q96NL6	p.Ala240Thr	rs749019155	missense variant	-	NC_000004.12:g.128970437C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu243Lys	rs115924008	missense variant	-	NC_000004.12:g.128970428C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu244Asp	rs1243144422	missense variant	-	NC_000004.12:g.128970423C>G	TOPMed
SCLT1	Q96NL6	p.Thr249Asn	rs367568359	missense variant	-	NC_000004.12:g.128970409G>T	ESP,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu250Lys	rs142830954	missense variant	-	NC_000004.12:g.128970407C>T	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu250Asp	rs748109220	missense variant	-	NC_000004.12:g.128970405T>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asp251Gly	rs780625958	missense variant	-	NC_000004.12:g.128970403T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asp251Val	rs780625958	missense variant	-	NC_000004.12:g.128970403T>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asp251His	rs371493509	missense variant	-	NC_000004.12:g.128970404C>G	ESP,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gly254Glu	rs1454743715	missense variant	-	NC_000004.12:g.128970394C>T	gnomAD
SCLT1	Q96NL6	p.Gln255Pro	rs200804651	missense variant	-	NC_000004.12:g.128970391T>G	1000Genomes,gnomAD
SCLT1	Q96NL6	p.Gln255Arg	rs200804651	missense variant	-	NC_000004.12:g.128970391T>C	1000Genomes,gnomAD
SCLT1	Q96NL6	p.Met256Ile	rs141863899	missense variant	-	NC_000004.12:g.128970387C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Met256Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128970388A>T	NCI-TCGA
SCLT1	Q96NL6	p.Lys257Glu	rs1259096285	missense variant	-	NC_000004.12:g.128970386T>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys259Asn	COSM203867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128970378C>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Asp262Asn	rs778224846	missense variant	-	NC_000004.12:g.128965312C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asp262Gly	rs756551030	missense variant	-	NC_000004.12:g.128965311T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Asp262Glu	rs1011825786	missense variant	-	NC_000004.12:g.128965310A>C	TOPMed
SCLT1	Q96NL6	p.Val263Met	rs141936180	missense variant	-	NC_000004.12:g.128965309C>T	1000Genomes,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser265Pro	rs781533613	missense variant	-	NC_000004.12:g.128965303A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Ala266Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128965300C>A	NCI-TCGA
SCLT1	Q96NL6	p.His267Arg	rs371314339	missense variant	-	NC_000004.12:g.128965296T>C	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.His267Pro	rs371314339	missense variant	-	NC_000004.12:g.128965296T>G	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.His267Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128965295A>T	NCI-TCGA
SCLT1	Q96NL6	p.Glu270Gln	rs369084418	missense variant	-	NC_000004.12:g.128965288C>G	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu271Asp	COSM4122239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128965283T>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Ala272Thr	rs766510060	missense variant	-	NC_000004.12:g.128965282C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser273Leu	rs1267479413	missense variant	-	NC_000004.12:g.128965278G>A	TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser273Thr	rs1394278308	missense variant	-	NC_000004.12:g.128965279A>T	gnomAD
SCLT1	Q96NL6	p.Arg275Lys	rs1191573115	missense variant	-	NC_000004.12:g.128965272C>T	gnomAD
SCLT1	Q96NL6	p.Arg276Cys	rs750651412	missense variant	-	NC_000004.12:g.128965270G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Arg276His	rs765514231	missense variant	-	NC_000004.12:g.128965269C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Leu277Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.128965266A>C	NCI-TCGA
SCLT1	Q96NL6	p.Leu277Val	rs1489233103	missense variant	-	NC_000004.12:g.128965267A>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln279His	rs944136806	missense variant	-	NC_000004.12:g.128965259C>A	TOPMed
SCLT1	Q96NL6	p.Gln279Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.128965261G>A	NCI-TCGA
SCLT1	Q96NL6	p.Gln279Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128965260T>C	NCI-TCGA
SCLT1	Q96NL6	p.Gln279Lys	rs761587647	missense variant	-	NC_000004.12:g.128965261G>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Gln281Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128965254T>G	NCI-TCGA
SCLT1	Q96NL6	p.Ser282Pro	rs768447210	missense variant	-	NC_000004.12:g.128965252A>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser282Ala	rs768447210	missense variant	-	NC_000004.12:g.128965252A>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser283Arg	rs1196623118	missense variant	-	NC_000004.12:g.128965247A>C	gnomAD
SCLT1	Q96NL6	p.Ser283Thr	rs1275301250	missense variant	-	NC_000004.12:g.128965248C>G	TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser283Asn	rs1275301250	missense variant	-	NC_000004.12:g.128965248C>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys285Thr	rs1221183995	missense variant	-	NC_000004.12:g.128965242T>G	TOPMed
SCLT1	Q96NL6	p.Gln286Arg	rs1245213584	missense variant	-	NC_000004.12:g.128965239T>C	TOPMed
SCLT1	Q96NL6	p.Ile289Leu	COSM447368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128965231T>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Arg290Lys	rs1478806342	missense variant	-	NC_000004.12:g.128965227C>T	TOPMed
SCLT1	Q96NL6	p.Cys292Tyr	rs1009259114	missense variant	-	NC_000004.12:g.128959772C>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Val293Leu	COSM3600255	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959770C>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Thr294Ala	rs1429180929	missense variant	-	NC_000004.12:g.128959767T>C	TOPMed
SCLT1	Q96NL6	p.Ile295Met	rs1205358356	missense variant	-	NC_000004.12:g.128959762G>C	gnomAD
SCLT1	Q96NL6	p.Gln296Leu	rs141894698	missense variant	-	NC_000004.12:g.128959760T>A	ESP,TOPMed
SCLT1	Q96NL6	p.Arg302Ile	rs1031527970	missense variant	-	NC_000004.12:g.128959742C>A	TOPMed
SCLT1	Q96NL6	p.Thr303Ile	rs779934171	missense variant	-	NC_000004.12:g.128959739G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr303Ser	rs779934171	missense variant	-	NC_000004.12:g.128959739G>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu304Lys	rs758471749	missense variant	-	NC_000004.12:g.128959737C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Thr306Ser	rs750563851	missense variant	-	NC_000004.12:g.128959731T>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Thr306Ile	COSM1427032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959730G>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.His307Tyr	rs1000000480	missense variant	-	NC_000004.12:g.128959728G>A	TOPMed
SCLT1	Q96NL6	p.Glu309Ala	rs765427849	missense variant	-	NC_000004.12:g.128959721T>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu309Gly	rs765427849	missense variant	-	NC_000004.12:g.128959721T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln311His	rs1212097525	missense variant	-	NC_000004.12:g.128959714C>G	TOPMed
SCLT1	Q96NL6	p.Thr312Asn	rs1258181834	missense variant	-	NC_000004.12:g.128959712G>T	TOPMed
SCLT1	Q96NL6	p.Glu314Lys	rs576491536	missense variant	-	NC_000004.12:g.128959707C>T	1000Genomes
SCLT1	Q96NL6	p.Gln316Ter	rs753537900	stop gained	-	NC_000004.12:g.128959701G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Ala317Thr	rs369384123	missense variant	-	NC_000004.12:g.128959698C>T	ESP,ExAC,gnomAD
SCLT1	Q96NL6	p.Cys319Ter	rs760473402	stop gained	-	NC_000004.12:g.128959690G>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Cys319Gly	rs1049473541	missense variant	-	NC_000004.12:g.128959692A>C	TOPMed
SCLT1	Q96NL6	p.Cys319Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128959691C>A	NCI-TCGA
SCLT1	Q96NL6	p.Glu321Val	COSM447366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959685T>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Leu322Ser	rs201820893	missense variant	-	NC_000004.12:g.128959682A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Arg326Lys	rs1473662359	missense variant	-	NC_000004.12:g.128959670C>T	TOPMed
SCLT1	Q96NL6	p.Tyr327Cys	COSM4122237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959667T>C	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Ile330Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128959657A>C	NCI-TCGA
SCLT1	Q96NL6	p.Ile330Phe	rs767420380	missense variant	-	NC_000004.12:g.128959659T>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Ile330Val	rs767420380	missense variant	-	NC_000004.12:g.128959659T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Arg332Lys	rs1398846272	missense variant	-	NC_000004.12:g.128959652C>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Ala333Asp	rs774049589	missense variant	-	NC_000004.12:g.128959649G>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser336Asn	rs770672087	missense variant	-	NC_000004.12:g.128959640C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu341Lys	rs922897456	missense variant	-	NC_000004.12:g.128959626C>T	gnomAD
SCLT1	Q96NL6	p.Ala343Ser	rs868690937	missense variant	-	NC_000004.12:g.128959620C>A	gnomAD
SCLT1	Q96NL6	p.Ala343Thr	rs868690937	missense variant	-	NC_000004.12:g.128959620C>T	gnomAD
SCLT1	Q96NL6	p.Ser348ValPheSerTerUnkUnk	COSM5166146	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128959605T>-	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Gln349Arg	rs747402480	missense variant	-	NC_000004.12:g.128959601T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Gln349His	rs1319252239	missense variant	-	NC_000004.12:g.128959600C>G	gnomAD
SCLT1	Q96NL6	p.Gln349Leu	COSM732607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128959601T>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Ala350Val	rs1213655195	missense variant	-	NC_000004.12:g.128957123G>A	gnomAD
SCLT1	Q96NL6	p.Leu352Phe	rs1247622732	missense variant	-	NC_000004.12:g.128957118G>A	TOPMed
SCLT1	Q96NL6	p.Glu353Asp	rs1052849966	missense variant	-	NC_000004.12:g.128957113C>G	gnomAD
SCLT1	Q96NL6	p.Glu353Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128957114T>G	NCI-TCGA
SCLT1	Q96NL6	p.Glu353Gln	COSM4834819	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128957115C>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Glu353Lys	rs766007005	missense variant	-	NC_000004.12:g.128957115C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu354Lys	rs762633562	missense variant	-	NC_000004.12:g.128957112C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu354Asp	rs35732875	missense variant	-	NC_000004.12:g.128957110C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys355Gln	rs1294424452	missense variant	-	NC_000004.12:g.128957109T>G	gnomAD
SCLT1	Q96NL6	p.Lys355Arg	rs751350400	missense variant	-	NC_000004.12:g.128957108T>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys357Glu	rs769393409	missense variant	-	NC_000004.12:g.128957103T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Asp360His	rs1421296093	missense variant	-	NC_000004.12:g.128957094C>G	TOPMed
SCLT1	Q96NL6	p.Ile361Arg	rs772529142	missense variant	-	NC_000004.12:g.128957090A>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile361Leu	rs775762765	missense variant	-	NC_000004.12:g.128957091T>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Ile361Val	rs775762765	missense variant	-	NC_000004.12:g.128957091T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu362Gly	rs143513157	missense variant	-	NC_000004.12:g.128957087T>C	ESP,TOPMed,gnomAD
SCLT1	Q96NL6	p.Met364Arg	rs746398116	missense variant	-	NC_000004.12:g.128957081A>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys365Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128957079T>C	NCI-TCGA
SCLT1	Q96NL6	p.Glu366Lys	rs778908118	missense variant	-	NC_000004.12:g.128957076C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu366Asp	rs1330285293	missense variant	-	NC_000004.12:g.128957074C>G	TOPMed
SCLT1	Q96NL6	p.Thr367Arg	rs1168607836	missense variant	-	NC_000004.12:g.128957072G>C	gnomAD
SCLT1	Q96NL6	p.Ser369Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128957066G>T	NCI-TCGA
SCLT1	Q96NL6	p.Arg370Gln	rs372095705	missense variant	-	NC_000004.12:g.128957063C>T	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg370Trp	rs771005429	missense variant	-	NC_000004.12:g.128957064G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Arg370Gly	rs771005429	missense variant	-	NC_000004.12:g.128957064G>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Val372Ile	rs972254254	missense variant	-	NC_000004.12:g.128957058C>T	TOPMed
SCLT1	Q96NL6	p.Val372Leu	rs972254254	missense variant	-	NC_000004.12:g.128957058C>A	TOPMed
SCLT1	Q96NL6	p.Asp374Gly	rs1453111025	missense variant	-	NC_000004.12:g.128957051T>C	gnomAD
SCLT1	Q96NL6	p.Ala375Gly	rs778042376	missense variant	-	NC_000004.12:g.128957048G>C	ExAC
SCLT1	Q96NL6	p.Ile377Val	rs756339402	missense variant	-	NC_000004.12:g.128957043T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Val383Asp	rs781074061	missense variant	-	NC_000004.12:g.128952839A>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Val383Ala	rs781074061	missense variant	-	NC_000004.12:g.128952839A>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ala384Glu	rs1335153091	missense variant	-	NC_000004.12:g.128952836G>T	gnomAD
SCLT1	Q96NL6	p.Ala384Thr	rs1233912685	missense variant	-	NC_000004.12:g.128952837C>T	gnomAD
SCLT1	Q96NL6	p.Asn385Ser	rs754823096	missense variant	-	NC_000004.12:g.128952833T>C	ExAC,TOPMed
SCLT1	Q96NL6	p.Asn385Asp	rs1347561143	missense variant	-	NC_000004.12:g.128952834T>C	TOPMed
SCLT1	Q96NL6	p.Asn385Ile	rs754823096	missense variant	-	NC_000004.12:g.128952833T>A	ExAC,TOPMed
SCLT1	Q96NL6	p.Thr386Asn	rs141213711	missense variant	-	NC_000004.12:g.128952830G>T	ESP,TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys388Thr	rs1432703968	missense variant	-	NC_000004.12:g.128952824T>G	TOPMed
SCLT1	Q96NL6	p.Gln389ThrPheSerTerUnk	rs748653627	frameshift	-	NC_000004.12:g.128952822_128952823insT	NCI-TCGA
SCLT1	Q96NL6	p.Ile392Met	rs1037414227	missense variant	-	NC_000004.12:g.128952811T>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln393His	rs1312117988	missense variant	-	NC_000004.12:g.128952808T>G	TOPMed
SCLT1	Q96NL6	p.Ile394Val	rs147782657	missense variant	-	NC_000004.12:g.128952807T>C	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser395Phe	COSM284809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128952803G>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Ser395Cys	rs1453633423	missense variant	-	NC_000004.12:g.128952803G>C	gnomAD
SCLT1	Q96NL6	p.Arg396Gln	rs904186727	missense variant	-	NC_000004.12:g.128952800C>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg396Ter	rs758308700	stop gained	-	NC_000004.12:g.128952801G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu400Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.128952789C>A	NCI-TCGA
SCLT1	Q96NL6	p.Leu401Pro	rs749909368	missense variant	-	NC_000004.12:g.128952785A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser402Leu	rs764679883	missense variant	-	NC_000004.12:g.128952782G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ala403Val	rs761474010	missense variant	-	NC_000004.12:g.128952779G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Leu404Phe	rs1259333602	missense variant	-	NC_000004.12:g.128952777G>A	gnomAD
SCLT1	Q96NL6	p.Glu407Lys	rs200227115	missense variant	-	NC_000004.12:g.128948570C>T	1000Genomes,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Cys408Tyr	rs773594955	missense variant	-	NC_000004.12:g.128948566C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Cys408Arg	rs1211837234	missense variant	-	NC_000004.12:g.128948567A>G	gnomAD
SCLT1	Q96NL6	p.Glu410Lys	rs765836493	missense variant	-	NC_000004.12:g.128948561C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys411Asn	rs761963526	missense variant	-	NC_000004.12:g.128948556T>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Gly413Asp	rs144200882	missense variant	-	NC_000004.12:g.128948551C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile415Leu	rs1323150764	missense variant	-	NC_000004.12:g.128948546T>G	TOPMed
SCLT1	Q96NL6	p.Arg417Ter	rs201631269	stop gained	-	NC_000004.12:g.128948540G>A	1000Genomes,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg417Gln	rs141916321	missense variant	-	NC_000004.12:g.128948539C>T	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg417Leu	rs141916321	missense variant	-	NC_000004.12:g.128948539C>A	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile419Val	rs771772363	missense variant	-	NC_000004.12:g.128948534T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Ile419Phe	rs771772363	missense variant	-	NC_000004.12:g.128948534T>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu421Val	rs1323700297	missense variant	-	NC_000004.12:g.128948527T>A	gnomAD
SCLT1	Q96NL6	p.Glu421Gly	rs1323700297	missense variant	-	NC_000004.12:g.128948527T>C	gnomAD
SCLT1	Q96NL6	p.Lys423SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.128948520_128948521TT>-	NCI-TCGA
SCLT1	Q96NL6	p.Ala424GlnPheSerTerUnk	COSM1427026	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128948520T>-	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Ala424SerPheSerTerUnkUnk	rs781735051	frameshift	-	NC_000004.12:g.128948519_128948520insT	NCI-TCGA,NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Glu426Lys	rs938590409	missense variant	-	NC_000004.12:g.128948513C>T	TOPMed
SCLT1	Q96NL6	p.Glu427Val	COSM72551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128948509T>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Glu427Lys	rs778704461	missense variant	-	NC_000004.12:g.128948510C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu428Asp	rs776840382	missense variant	-	NC_000004.12:g.128948505T>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys431Thr	rs1424159138	missense variant	-	NC_000004.12:g.128948497T>G	TOPMed
SCLT1	Q96NL6	p.Ile432Phe	rs145872583	missense variant	-	NC_000004.12:g.128946152T>A	ESP,ExAC,TOPMed
SCLT1	Q96NL6	p.Tyr433Cys	rs770811437	missense variant	-	NC_000004.12:g.128946148T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Arg434Leu	rs200051986	missense variant	-	NC_000004.12:g.128946145C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg434His	rs200051986	missense variant	-	NC_000004.12:g.128946145C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg434Cys	rs376175823	missense variant	-	NC_000004.12:g.128946146G>A	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gly436Asp	rs747760423	missense variant	-	NC_000004.12:g.128946139C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gly438Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.128946134C>A	NCI-TCGA
SCLT1	Q96NL6	p.Gly438Glu	rs780692789	missense variant	-	NC_000004.12:g.128946133C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asn439Ser	rs1326499482	missense variant	-	NC_000004.12:g.128946130T>C	gnomAD
SCLT1	Q96NL6	p.Ser441Cys	rs10028124	missense variant	-	NC_000004.12:g.128946125T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser441Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128946124C>T	NCI-TCGA
SCLT1	Q96NL6	p.Tyr443Cys	rs750715703	missense variant	-	NC_000004.12:g.128946118T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys445Gln	rs779358024	missense variant	-	NC_000004.12:g.128946113T>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu447Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.128946107C>A	NCI-TCGA
SCLT1	Q96NL6	p.Glu448Gln	COSM4391177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128946104C>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Met449Ile	rs1359615869	missense variant	-	NC_000004.12:g.128946099C>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Met449Arg	rs1161218017	missense variant	-	NC_000004.12:g.128946100A>C	gnomAD
SCLT1	Q96NL6	p.Met449Val	rs1433009757	missense variant	-	NC_000004.12:g.128946101T>C	TOPMed
SCLT1	Q96NL6	p.Met449Ile	rs1359615869	missense variant	-	NC_000004.12:g.128946099C>A	TOPMed,gnomAD
SCLT1	Q96NL6	p.Phe453Val	rs1414242072	missense variant	-	NC_000004.12:g.128946089A>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Phe453Leu	rs760826666	missense variant	-	NC_000004.12:g.128946087G>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Phe453Tyr	rs376156624	missense variant	-	NC_000004.12:g.128946088A>T	ESP,ExAC,gnomAD
SCLT1	Q96NL6	p.Phe453Ile	COSM3600249	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128946089A>T	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Phe453Leu	COSM3600247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128946089A>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Leu454Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128946085A>T	NCI-TCGA
SCLT1	Q96NL6	p.Ser456Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.128946079G>C	NCI-TCGA
SCLT1	Q96NL6	p.Arg458His	rs112358448	missense variant	-	NC_000004.12:g.128946073C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg458Ser	rs767602025	missense variant	-	NC_000004.12:g.128946074G>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg458Cys	rs767602025	missense variant	-	NC_000004.12:g.128946074G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg458Leu	rs112358448	missense variant	-	NC_000004.12:g.128946073C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg458Gly	rs767602025	missense variant	-	NC_000004.12:g.128946074G>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser459Ter	rs773964733	stop gained	-	NC_000004.12:g.128946070G>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys460Glu	rs1224645259	missense variant	-	NC_000004.12:g.128946068T>C	TOPMed
SCLT1	Q96NL6	p.Lys460Arg	rs1466677682	missense variant	-	NC_000004.12:g.128946067T>C	gnomAD
SCLT1	Q96NL6	p.Asp462Gly	rs1269446312	missense variant	-	NC_000004.12:g.128946061T>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Asp462Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128946062C>A	NCI-TCGA
SCLT1	Q96NL6	p.Leu463Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128946059G>A	NCI-TCGA
SCLT1	Q96NL6	p.Thr468Arg	rs762809545	missense variant	-	NC_000004.12:g.128946043G>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr468Met	rs762809545	missense variant	-	NC_000004.12:g.128946043G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg469Gly	rs1185364571	missense variant	-	NC_000004.12:g.128946041T>C	TOPMed
SCLT1	Q96NL6	p.Ile474Val	rs769779138	missense variant	-	NC_000004.12:g.128946026T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Ile474Thr	rs747582277	missense variant	-	NC_000004.12:g.128946025A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Gln476Ter	rs1432766804	stop gained	-	NC_000004.12:g.128946020G>A	gnomAD
SCLT1	Q96NL6	p.Thr479Ile	rs768144691	missense variant	-	NC_000004.12:g.128946010G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr479Asn	rs768144691	missense variant	-	NC_000004.12:g.128946010G>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asp480Asn	rs746688024	missense variant	-	NC_000004.12:g.128946008C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser482Leu	rs757265016	missense variant	-	NC_000004.12:g.128943183G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu483Lys	rs778310681	missense variant	-	NC_000004.12:g.128943181C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu483Gln	rs778310681	missense variant	-	NC_000004.12:g.128943181C>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile485Met	COSM1427024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128943173T>C	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Ile485Lys	rs889846876	missense variant	-	NC_000004.12:g.128943174A>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser486Pro	rs756527243	missense variant	-	NC_000004.12:g.128943172A>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser486Ala	rs756527243	missense variant	-	NC_000004.12:g.128943172A>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg487Cys	rs748697531	missense variant	-	NC_000004.12:g.128943169G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg487His	rs371973931	missense variant	-	NC_000004.12:g.128943168C>T	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln496Ter	COSM3600243	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.128943142G>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Asn497Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128943138T>A	NCI-TCGA
SCLT1	Q96NL6	p.Val498Ile	rs1372806172	missense variant	-	NC_000004.12:g.128943136C>T	gnomAD
SCLT1	Q96NL6	p.Glu502Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128943124C>T	NCI-TCGA
SCLT1	Q96NL6	p.Arg503Lys	rs77885682	missense variant	-	NC_000004.12:g.128943120C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu504Gly	rs761590675	missense variant	-	NC_000004.12:g.128943117T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu504Asp	rs199761521	missense variant	-	NC_000004.12:g.128943116C>G	1000Genomes
SCLT1	Q96NL6	p.Asn505Asp	rs572560518	missense variant	-	NC_000004.12:g.128943115T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asn505Lys	rs1164670487	missense variant	-	NC_000004.12:g.128943113G>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Asn505ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.128943114_128943115insTC	NCI-TCGA
SCLT1	Q96NL6	p.Cys506Phe	rs764001067	missense variant	-	NC_000004.12:g.128943111C>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Gly507Val	rs1177530521	missense variant	-	NC_000004.12:g.128943108C>A	gnomAD
SCLT1	Q96NL6	p.Ser510Gly	rs1249333494	missense variant	-	NC_000004.12:g.128943100T>C	gnomAD
SCLT1	Q96NL6	p.Gln512Arg	COSM4122231	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128943093T>C	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Lys515Gln	rs141960392	missense variant	-	NC_000004.12:g.128943085T>G	ESP,ExAC,gnomAD
SCLT1	Q96NL6	p.Gln517His	rs1257705164	missense variant	-	NC_000004.12:g.128943077C>A	gnomAD
SCLT1	Q96NL6	p.Glu519Lys	rs1233977911	missense variant	-	NC_000004.12:g.128943073C>T	gnomAD
SCLT1	Q96NL6	p.Glu519Gln	rs1233977911	missense variant	-	NC_000004.12:g.128943073C>G	gnomAD
SCLT1	Q96NL6	p.Asn520Asp	rs1316449288	missense variant	-	NC_000004.12:g.128943070T>C	gnomAD
SCLT1	Q96NL6	p.Gln522Arg	rs748526821	missense variant	-	NC_000004.12:g.128943063T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln522Leu	rs748526821	missense variant	-	NC_000004.12:g.128943063T>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln522Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.128943064G>A	NCI-TCGA
SCLT1	Q96NL6	p.Arg524Trp	rs367930155	missense variant	-	NC_000004.12:g.128943058G>A	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg524Gln	rs1312635867	missense variant	-	NC_000004.12:g.128943057C>T	gnomAD
SCLT1	Q96NL6	p.Lys525Glu	rs1394666447	missense variant	-	NC_000004.12:g.128943055T>C	gnomAD
SCLT1	Q96NL6	p.Thr527Ala	rs780130683	missense variant	-	NC_000004.12:g.128943049T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu528Asp	rs1182733005	missense variant	-	NC_000004.12:g.128943044C>G	TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu528Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128943046C>G	NCI-TCGA
SCLT1	Q96NL6	p.Glu528Gly	rs750649119	missense variant	-	NC_000004.12:g.128943045T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu528Asp	rs1182733005	missense variant	-	NC_000004.12:g.128943044C>A	TOPMed,gnomAD
SCLT1	Q96NL6	p.Leu530Ile	rs1410556146	missense variant	-	NC_000004.12:g.128943040A>T	gnomAD
SCLT1	Q96NL6	p.Leu530Ter	rs779072100	stop gained	-	NC_000004.12:g.128943039A>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile533Phe	rs144166835	missense variant	-	NC_000004.12:g.128943031T>A	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile533Val	rs144166835	missense variant	-	NC_000004.12:g.128943031T>C	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile533Asn	rs760728436	missense variant	-	NC_000004.12:g.128943030A>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile533Thr	rs760728436	missense variant	-	NC_000004.12:g.128943030A>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ala534Asp	rs1200992192	missense variant	-	NC_000004.12:g.128943027G>T	gnomAD
SCLT1	Q96NL6	p.Glu536Gly	rs752202720	missense variant	-	NC_000004.12:g.128943021T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln538Lys	rs767147286	missense variant	-	NC_000004.12:g.128943016G>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln538Pro	rs759187846	missense variant	-	NC_000004.12:g.128943015T>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys539Ter	rs774139322	stop gained	-	NC_000004.12:g.128943013T>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys539Glu	rs774139322	missense variant	-	NC_000004.12:g.128943013T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys540Arg	rs1043717124	missense variant	-	NC_000004.12:g.128943009T>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Ala541Asp	rs1313944682	missense variant	-	NC_000004.12:g.128943006G>T	gnomAD
SCLT1	Q96NL6	p.Ala541ProPheSerTerUnk	rs760494753	frameshift	-	NC_000004.12:g.128943008T>-	NCI-TCGA,NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Lys542Glu	rs1346108044	missense variant	-	NC_000004.12:g.128943004T>C	TOPMed
SCLT1	Q96NL6	p.Lys544Arg	rs762215370	missense variant	-	NC_000004.12:g.128942997T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ser546Asn	rs751079883	missense variant	-	NC_000004.12:g.128936847C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser546Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128936847C>A	NCI-TCGA
SCLT1	Q96NL6	p.Thr547Ala	rs766021378	missense variant	-	NC_000004.12:g.128936845T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Met548Val	rs1482047190	missense variant	-	NC_000004.12:g.128936842T>C	TOPMed
SCLT1	Q96NL6	p.His550Arg	rs776998041	missense variant	-	NC_000004.12:g.128936835T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Phe552Ile	rs1392501926	missense variant	-	NC_000004.12:g.128936830A>T	gnomAD
SCLT1	Q96NL6	p.Ile554Val	rs768908934	missense variant	-	NC_000004.12:g.128936824T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys555Asn	rs761095163	missense variant	-	NC_000004.12:g.128936819C>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu556Gly	rs1388201771	missense variant	-	NC_000004.12:g.128936817T>C	gnomAD
SCLT1	Q96NL6	p.Arg557His	rs149400028	missense variant	-	NC_000004.12:g.128936814C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg557Cys	rs201434760	missense variant	-	NC_000004.12:g.128936815G>A	1000Genomes,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gly558Glu	rs962930772	missense variant	-	NC_000004.12:g.128936811C>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Gly558Arg	rs1246169596	missense variant	-	NC_000004.12:g.128936812C>T	gnomAD
SCLT1	Q96NL6	p.Gln562Lys	rs138052297	missense variant	-	NC_000004.12:g.128936800G>T	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu565Lys	rs749482329	missense variant	-	NC_000004.12:g.128936791C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu565Asp	COSM6166510	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128936789C>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Met566Val	rs755965227	missense variant	-	NC_000004.12:g.128936788T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Met566Leu	rs755965227	missense variant	-	NC_000004.12:g.128936788T>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Met566Ile	rs1347846930	missense variant	-	NC_000004.12:g.128936786C>A	gnomAD
SCLT1	Q96NL6	p.Glu567Lys	rs748010222	missense variant	-	NC_000004.12:g.128936785C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser569Arg	rs1436274716	missense variant	-	NC_000004.12:g.128936777A>T	TOPMed
SCLT1	Q96NL6	p.Ser569Asn	rs141275432	missense variant	-	NC_000004.12:g.128936778C>T	ESP,gnomAD
SCLT1	Q96NL6	p.Asn572Ser	rs1408937665	missense variant	-	NC_000004.12:g.128936769T>C	gnomAD
SCLT1	Q96NL6	p.Ile574Val	rs755006037	missense variant	-	NC_000004.12:g.128936764T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ile574Thr	rs1012259586	missense variant	-	NC_000004.12:g.128936763A>G	TOPMed,gnomAD
SCLT1	Q96NL6	p.Val575Ala	rs201371726	missense variant	-	NC_000004.12:g.128936760A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu576Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128936758C>G	NCI-TCGA
SCLT1	Q96NL6	p.Ala582Val	rs138724704	missense variant	-	NC_000004.12:g.128936739G>A	ESP,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln584Leu	rs761009262	missense variant	-	NC_000004.12:g.128936733T>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Lys586Arg	rs572035718	missense variant	-	NC_000004.12:g.128936727T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ala588Val	rs767975054	missense variant	-	NC_000004.12:g.128936721G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Asn589Ser	rs367587985	missense variant	-	NC_000004.12:g.128936718T>C	ESP,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg590Ser	rs1216929430	missense variant	-	NC_000004.12:g.128936714C>G	gnomAD
SCLT1	Q96NL6	p.Lys592Glu	rs1486984133	missense variant	-	NC_000004.12:g.128936710T>C	TOPMed
SCLT1	Q96NL6	p.Glu593Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128936707C>G	NCI-TCGA
SCLT1	Q96NL6	p.Glu594Asp	rs1220332046	missense variant	-	NC_000004.12:g.128936702T>G	gnomAD
SCLT1	Q96NL6	p.Glu594Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.128936704C>A	NCI-TCGA
SCLT1	Q96NL6	p.Thr595Ser	rs201991504	missense variant	-	NC_000004.12:g.128936701T>A	1000Genomes,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr595Met	rs373795627	missense variant	-	NC_000004.12:g.128936700G>A	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Thr595Arg	rs373795627	missense variant	-	NC_000004.12:g.128936700G>C	ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu600Lys	COSM4825439	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128936686C>T	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Ala602Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128936680C>A	NCI-TCGA
SCLT1	Q96NL6	p.Glu603Ala	rs1410223845	missense variant	-	NC_000004.12:g.128936676T>G	gnomAD
SCLT1	Q96NL6	p.Ile604Val	rs770189357	missense variant	-	NC_000004.12:g.128936674T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg605Lys	rs754418924	missense variant	-	NC_000004.12:g.128936670C>T	gnomAD
SCLT1	Q96NL6	p.Arg605Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128936670C>G	NCI-TCGA
SCLT1	Q96NL6	p.Ile606Met	rs781164564	missense variant	-	NC_000004.12:g.128936666G>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Asn607Ser	rs1320943184	missense variant	-	NC_000004.12:g.128936664T>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Asn608Lys	rs754913227	missense variant	-	NC_000004.12:g.128936660A>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Leu609Pro	rs554600523	missense variant	-	NC_000004.12:g.128936658A>G	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.Lys610Asn	rs762147543	missense variant	-	NC_000004.12:g.128891137C>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser614Arg	rs1187312716	missense variant	-	NC_000004.12:g.128891127T>G	gnomAD
SCLT1	Q96NL6	p.Arg615Gly	rs115634955	missense variant	-	NC_000004.12:g.128891124G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg615Gln	rs372975601	missense variant	-	NC_000004.12:g.128891123C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg615Ter	rs115634955	stop gained	-	NC_000004.12:g.128891124G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys617Asn	COSM480855	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128891116T>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Leu618Arg	rs779835916	missense variant	-	NC_000004.12:g.128891114A>C	ExAC,gnomAD
SCLT1	Q96NL6	p.His619Leu	rs772089971	missense variant	-	NC_000004.12:g.128891111T>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Gln621Arg	rs778421578	missense variant	-	NC_000004.12:g.128891105T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Glu622Gln	rs756848481	missense variant	-	NC_000004.12:g.128891103C>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser625Pro	rs777465945	missense variant	-	NC_000004.12:g.128891094A>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln626Ter	rs1479099522	stop gained	-	NC_000004.12:g.128891091G>A	TOPMed
SCLT1	Q96NL6	p.Glu628Asp	rs752001813	missense variant	-	NC_000004.12:g.128891083T>A	ExAC
SCLT1	Q96NL6	p.Met629Ile	rs1211437059	missense variant	-	NC_000004.12:g.128891080C>T	gnomAD
SCLT1	Q96NL6	p.Met629Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128891080C>A	NCI-TCGA
SCLT1	Q96NL6	p.Ala630Thr	rs766763388	missense variant	-	NC_000004.12:g.128891079C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ala630Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128891079C>A	NCI-TCGA
SCLT1	Q96NL6	p.Lys633Asn	rs750481269	missense variant	-	NC_000004.12:g.128891068C>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Val634Leu	rs1390994889	missense variant	-	NC_000004.12:g.128891067C>A	TOPMed
SCLT1	Q96NL6	p.Ala635Thr	rs1406324806	missense variant	-	NC_000004.12:g.128891064C>T	gnomAD
SCLT1	Q96NL6	p.Ala635Asp	rs1390057257	missense variant	-	NC_000004.12:g.128891063G>T	gnomAD
SCLT1	Q96NL6	p.Glu636Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128891061C>T	NCI-TCGA
SCLT1	Q96NL6	p.Asn637Ser	rs765904503	missense variant	-	NC_000004.12:g.128888773T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Leu640Ile	rs1250792924	missense variant	-	NC_000004.12:g.128888765G>T	TOPMed,gnomAD
SCLT1	Q96NL6	p.Glu643Val	rs1483957187	missense variant	-	NC_000004.12:g.128888755T>A	gnomAD
SCLT1	Q96NL6	p.Gln645Glu	rs201260499	missense variant	-	NC_000004.12:g.128888750G>C	1000Genomes,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Lys647Glu	rs1310547618	missense variant	-	NC_000004.12:g.128888744T>C	gnomAD
SCLT1	Q96NL6	p.Leu651His	rs1407977227	missense variant	-	NC_000004.12:g.128888731A>T	TOPMed
SCLT1	Q96NL6	p.Arg654Cys	rs531031008	missense variant	-	NC_000004.12:g.128888723G>A	gnomAD
SCLT1	Q96NL6	p.Arg654His	rs532919376	missense variant	-	NC_000004.12:g.128888722C>T	1000Genomes,ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln657His	rs770901348	missense variant	-	NC_000004.12:g.128888712C>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ala658Thr	rs748762989	missense variant	-	NC_000004.12:g.128888711C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Ala662Thr	rs772808785	missense variant	-	NC_000004.12:g.128888699C>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Ala662Val	COSM6166512	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128888698G>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Ser664Leu	COSM3600241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128888692G>A	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Ala665Val	rs559136001	missense variant	-	NC_000004.12:g.128888689G>A	1000Genomes,ExAC,gnomAD
SCLT1	Q96NL6	p.Ser666Thr	rs747850414	missense variant	-	NC_000004.12:g.128888687A>T	ExAC,gnomAD
SCLT1	Q96NL6	p.Ser666Cys	rs1480558026	missense variant	-	NC_000004.12:g.128888686G>C	TOPMed,gnomAD
SCLT1	Q96NL6	p.Gln667Ter	rs1197736116	stop gained	-	NC_000004.12:g.128888684G>A	TOPMed
SCLT1	Q96NL6	p.Gln668Ter	rs1410778998	stop gained	-	NC_000004.12:g.128888681G>A	gnomAD
SCLT1	Q96NL6	p.Leu669Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128884538A>G	NCI-TCGA
SCLT1	Q96NL6	p.Leu669Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.128884539G>A	NCI-TCGA
SCLT1	Q96NL6	p.Ser670Gly	rs976235764	missense variant	-	NC_000004.12:g.128884536T>C	TOPMed
SCLT1	Q96NL6	p.Ile672Val	rs762899850	missense variant	-	NC_000004.12:g.128884530T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Thr673Ile	rs772537895	missense variant	-	NC_000004.12:g.128884526G>A	ExAC,gnomAD
SCLT1	Q96NL6	p.Val674Leu	rs747678805	missense variant	-	NC_000004.12:g.128884524C>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Val674Met	rs747678805	missense variant	-	NC_000004.12:g.128884524C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Val674Leu	rs747678805	missense variant	-	NC_000004.12:g.128884524C>G	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Val674Ala	rs776326397	missense variant	-	NC_000004.12:g.128884523A>G	ExAC,gnomAD
SCLT1	Q96NL6	p.Gln675Pro	rs1243077278	missense variant	-	NC_000004.12:g.128884520T>G	gnomAD
SCLT1	Q96NL6	p.Gln675Ter	rs768464249	stop gained	-	NC_000004.12:g.128884521G>A	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Arg676Gly	rs746196883	missense variant	-	NC_000004.12:g.128884518T>C	ExAC,gnomAD
SCLT1	Q96NL6	p.Ala679Thr	rs779446072	missense variant	-	NC_000004.12:g.128884509C>T	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Ala680Ser	rs1474042281	missense variant	-	NC_000004.12:g.128884506C>A	gnomAD
SCLT1	Q96NL6	p.Ala680Gly	rs1452678363	missense variant	-	NC_000004.12:g.128884505G>C	gnomAD
SCLT1	Q96NL6	p.Met683Ile	rs913316488	missense variant	-	NC_000004.12:g.128884495C>T	TOPMed
SCLT1	Q96NL6	p.Met683Leu	COSM267383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.128884497T>G	NCI-TCGA Cosmic
SCLT1	Q96NL6	p.Met683Val	rs749809941	missense variant	-	NC_000004.12:g.128884497T>C	ExAC,TOPMed,gnomAD
SCLT1	Q96NL6	p.Met683Ile	rs913316488	missense variant	-	NC_000004.12:g.128884495C>A	TOPMed
SCLT1	Q96NL6	p.Ter689Gln	rs142473295	stop lost	-	NC_000004.12:g.128884479A>G	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro2Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.631257C>A	NCI-TCGA
WFIKKN1	Q96NZ8	p.Ala3Pro	rs376127399	missense variant	-	NC_000016.10:g.631260G>C	1000Genomes,ESP,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala3Thr	rs376127399	missense variant	-	NC_000016.10:g.631260G>A	1000Genomes,ESP,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg5Cys	rs1245938854	missense variant	-	NC_000016.10:g.631266C>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg5His	rs370788184	missense variant	-	NC_000016.10:g.631267G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro6Thr	rs762714937	missense variant	-	NC_000016.10:g.631269C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu7Pro	rs531854176	missense variant	-	NC_000016.10:g.631273T>C	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu8Gln	rs766998885	missense variant	-	NC_000016.10:g.631276T>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu8Pro	rs766998885	missense variant	-	NC_000016.10:g.631276T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Pro9Thr	rs750335031	missense variant	-	NC_000016.10:g.631278C>A	ExAC
WFIKKN1	Q96NZ8	p.Pro9Arg	rs141017859	missense variant	-	NC_000016.10:g.631279C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro9Leu	rs141017859	missense variant	-	NC_000016.10:g.631279C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu11Pro	rs751793337	missense variant	-	NC_000016.10:g.631285T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu12Phe	rs1274637395	missense variant	-	NC_000016.10:g.631287C>T	gnomAD
WFIKKN1	Q96NZ8	p.Leu12His	rs1417777172	missense variant	-	NC_000016.10:g.631288T>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg15Trp	rs547572981	missense variant	-	NC_000016.10:g.631296C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg15Pro	rs746390568	missense variant	-	NC_000016.10:g.631297G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg15Gln	rs746390568	missense variant	-	NC_000016.10:g.631297G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu16Pro	rs1359672239	missense variant	-	NC_000016.10:g.631300T>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser18Leu	rs373808690	missense variant	-	NC_000016.10:g.631306C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly19Arg	rs1216165752	missense variant	-	NC_000016.10:g.631308G>C	gnomAD
WFIKKN1	Q96NZ8	p.Ala20Val	rs771516875	missense variant	-	NC_000016.10:g.631312C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala20LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.631307G>-	NCI-TCGA
WFIKKN1	Q96NZ8	p.Gly21Ala	rs772731030	missense variant	-	NC_000016.10:g.631315G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu22Ser	rs1192901671	missense variant	-	NC_000016.10:g.631318T>C	TOPMed
WFIKKN1	Q96NZ8	p.Pro24Ser	rs147569364	missense variant	-	NC_000016.10:g.631323C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu26Pro	rs960064053	missense variant	-	NC_000016.10:g.631330T>C	TOPMed
WFIKKN1	Q96NZ8	p.Ser28Arg	rs1458243361	missense variant	-	NC_000016.10:g.631337C>G	gnomAD
WFIKKN1	Q96NZ8	p.Ser28Asn	rs144348316	missense variant	-	NC_000016.10:g.631336G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser28Arg	rs1458243361	missense variant	-	NC_000016.10:g.631337C>A	gnomAD
WFIKKN1	Q96NZ8	p.His29Gln	rs1323250609	missense variant	-	NC_000016.10:g.631340C>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro30Leu	rs80030357	missense variant	-	NC_000016.10:g.631342C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro30Arg	rs80030357	missense variant	-	NC_000016.10:g.631342C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro30Gln	rs80030357	missense variant	-	NC_000016.10:g.631342C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly31Ser	rs962814893	missense variant	-	NC_000016.10:g.631344G>A	gnomAD
WFIKKN1	Q96NZ8	p.Gly31Ala	rs767514197	missense variant	-	NC_000016.10:g.631345G>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Val32Met	rs1023147765	missense variant	-	NC_000016.10:g.631347G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro34Ser	rs756227828	missense variant	-	NC_000016.10:g.631353C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gln36Arg	rs1223301653	missense variant	-	NC_000016.10:g.631360A>G	gnomAD
WFIKKN1	Q96NZ8	p.Leu37Pro	rs755402719	missense variant	-	NC_000016.10:g.631363T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu41Pro	rs1419148251	missense variant	-	NC_000016.10:g.631375T>C	TOPMed
WFIKKN1	Q96NZ8	p.Leu41Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.631374C>A	NCI-TCGA
WFIKKN1	Q96NZ8	p.Val43Leu	rs747781969	missense variant	-	NC_000016.10:g.631380G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp44Asn	rs143772631	missense variant	-	NC_000016.10:g.631383G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala45Val	rs1424399431	missense variant	-	NC_000016.10:g.631387C>T	TOPMed
WFIKKN1	Q96NZ8	p.Gln46His	rs1412058920	missense variant	-	NC_000016.10:g.631391G>C	gnomAD
WFIKKN1	Q96NZ8	p.Ser47Asn	rs1407501814	missense variant	-	NC_000016.10:g.631393G>A	gnomAD
WFIKKN1	Q96NZ8	p.Thr48Asn	rs1165933336	missense variant	-	NC_000016.10:g.631396C>A	gnomAD
WFIKKN1	Q96NZ8	p.CysGlu49Ter	rs934849628	stop gained	-	NC_000016.10:g.631400_631401del	TOPMed
WFIKKN1	Q96NZ8	p.Glu50Asp	rs141113456	missense variant	-	NC_000016.10:g.631403G>T	ESP,TOPMed
WFIKKN1	Q96NZ8	p.Glu50Lys	rs746596297	missense variant	-	NC_000016.10:g.631401G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg51Cys	rs770412943	missense variant	-	NC_000016.10:g.631404C>T	ExAC,TOPMed
WFIKKN1	Q96NZ8	p.Arg51His	rs574160125	missense variant	-	NC_000016.10:g.631405G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu52Gln	rs775302766	missense variant	-	NC_000016.10:g.631407G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu52Lys	rs775302766	missense variant	-	NC_000016.10:g.631407G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu52Ala	rs762630871	missense variant	-	NC_000016.10:g.631408A>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu52Ter	rs775302766	stop gained	-	NC_000016.10:g.631407G>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys53Tyr	rs750602339	missense variant	-	NC_000016.10:g.631411G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Cys53Arg	rs767816444	missense variant	-	NC_000016.10:g.631410T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ser54Ile	rs138836137	missense variant	-	NC_000016.10:g.631414G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser54Asn	rs138836137	missense variant	-	NC_000016.10:g.631414G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp56Glu	rs141968670	missense variant	-	NC_000016.10:g.631421C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gln57Leu	COSM3361858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.631423A>T	NCI-TCGA Cosmic
WFIKKN1	Q96NZ8	p.Asp58Asn	rs1186038150	missense variant	-	NC_000016.10:g.632582G>A	TOPMed
WFIKKN1	Q96NZ8	p.Cys59Arg	rs1275541985	missense variant	-	NC_000016.10:g.632585T>C	gnomAD
WFIKKN1	Q96NZ8	p.Ala60Val	rs780094283	missense variant	-	NC_000016.10:g.632589C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Glu63Lys	rs1322314813	missense variant	-	NC_000016.10:g.632597G>A	gnomAD
WFIKKN1	Q96NZ8	p.Glu63Ter	COSM4834320	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.632597G>T	NCI-TCGA Cosmic
WFIKKN1	Q96NZ8	p.Glu63GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.632598A>-	NCI-TCGA
WFIKKN1	Q96NZ8	p.Lys64SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.632600A>-	NCI-TCGA
WFIKKN1	Q96NZ8	p.Cys65Ter	rs373322157	stop gained	-	NC_000016.10:g.632605C>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys65Arg	rs768530158	missense variant	-	NC_000016.10:g.632603T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Cys66Ser	rs1481719747	missense variant	-	NC_000016.10:g.632607G>C	TOPMed
WFIKKN1	Q96NZ8	p.Val69Met	rs776989382	missense variant	-	NC_000016.10:g.632615G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Val69Ala	rs1203890065	missense variant	-	NC_000016.10:g.632616T>C	TOPMed
WFIKKN1	Q96NZ8	p.Val69Glu	COSM972697	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632616T>A	NCI-TCGA Cosmic
WFIKKN1	Q96NZ8	p.Leu72Pro	rs1210913861	missense variant	-	NC_000016.10:g.632625T>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.His73Tyr	rs138345591	missense variant	-	NC_000016.10:g.632627C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser74Asn	rs1243604676	missense variant	-	NC_000016.10:g.632631G>A	TOPMed
WFIKKN1	Q96NZ8	p.Cys75Ter	rs765174836	stop gained	-	NC_000016.10:g.632635C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys75Gly	rs1451215215	missense variant	-	NC_000016.10:g.632633T>G	gnomAD
WFIKKN1	Q96NZ8	p.Val76Met	rs753250560	missense variant	-	NC_000016.10:g.632636G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg79Ser	rs757780773	missense variant	-	NC_000016.10:g.632645C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg79His	rs1158527369	missense variant	-	NC_000016.10:g.632646G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg79Cys	rs757780773	missense variant	-	NC_000016.10:g.632645C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly82Ser	rs149287908	missense variant	-	NC_000016.10:g.632654G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser83Asn	rs767220342	missense variant	-	NC_000016.10:g.632658G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Pro84Gln	rs755659397	missense variant	-	NC_000016.10:g.632661C>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala86Val	rs779393776	missense variant	-	NC_000016.10:g.632667C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala86Thr	rs1332320046	missense variant	-	NC_000016.10:g.632666G>A	gnomAD
WFIKKN1	Q96NZ8	p.Pro87Leu	rs144565157	missense variant	-	NC_000016.10:g.632670C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr88Lys	rs148475508	missense variant	-	NC_000016.10:g.632673C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr88Met	rs148475508	missense variant	-	NC_000016.10:g.632673C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr88Pro	rs1356151197	missense variant	-	NC_000016.10:g.632672A>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr89Ile	rs973217087	missense variant	-	NC_000016.10:g.632676C>T	gnomAD
WFIKKN1	Q96NZ8	p.Ala90Val	rs769947524	missense variant	-	NC_000016.10:g.632679C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala90Thr	COSM972714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632678G>A	NCI-TCGA Cosmic
WFIKKN1	Q96NZ8	p.Ala91Ser	rs1471550417	missense variant	-	NC_000016.10:g.632681G>T	gnomAD
WFIKKN1	Q96NZ8	p.Cys93Phe	rs1220392703	missense variant	-	NC_000016.10:g.632688G>T	TOPMed
WFIKKN1	Q96NZ8	p.Glu94Lys	rs762221711	missense variant	-	NC_000016.10:g.632690G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly95Ser	rs767809202	missense variant	-	NC_000016.10:g.632693G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Val97Ala	rs1424931976	missense variant	-	NC_000016.10:g.632700T>C	gnomAD
WFIKKN1	Q96NZ8	p.Val97Met	rs866647250	missense variant	-	NC_000016.10:g.632699G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys98Ter	rs1023949395	stop gained	-	NC_000016.10:g.632704C>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro99Thr	rs1393624182	missense variant	-	NC_000016.10:g.632705C>A	gnomAD
WFIKKN1	Q96NZ8	p.Gln101Pro	rs755676019	missense variant	-	NC_000016.10:g.632712A>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly102Asp	rs1242995004	missense variant	-	NC_000016.10:g.632715G>A	gnomAD
WFIKKN1	Q96NZ8	p.Ser103Leu	rs753331799	missense variant	-	NC_000016.10:g.632718C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Asp104Glu	rs754507333	missense variant	-	NC_000016.10:g.632722C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys105Tyr	rs1484108436	missense variant	-	NC_000016.10:g.632724G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp106Asn	rs748042677	missense variant	-	NC_000016.10:g.632726G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp106Glu	rs147137382	missense variant	-	NC_000016.10:g.632728C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp109Asn	rs746121925	missense variant	-	NC_000016.10:g.632735G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly110Arg	rs140254693	missense variant	-	NC_000016.10:g.632738G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly110Arg	rs140254693	missense variant	-	NC_000016.10:g.632738G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gln111Arg	rs1197335179	missense variant	-	NC_000016.10:g.632742A>G	TOPMed
WFIKKN1	Q96NZ8	p.Val113Met	rs184792782	missense variant	-	NC_000016.10:g.632747G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys114Gly	rs913056684	missense variant	-	NC_000016.10:g.632750T>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys114Tyr	rs1259881766	missense variant	-	NC_000016.10:g.632751G>A	TOPMed
WFIKKN1	Q96NZ8	p.Arg115His	rs761073437	missense variant	-	NC_000016.10:g.632754G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg115Cys	rs773500880	missense variant	-	NC_000016.10:g.632753C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg117His	rs753516170	missense variant	-	NC_000016.10:g.632760G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg117Leu	rs753516170	missense variant	-	NC_000016.10:g.632760G>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg117Cys	rs766016577	missense variant	-	NC_000016.10:g.632759C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg117Ser	rs766016577	missense variant	-	NC_000016.10:g.632759C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp118His	rs764775455	missense variant	-	NC_000016.10:g.632762G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp118Ala	rs1205241348	missense variant	-	NC_000016.10:g.632763A>C	gnomAD
WFIKKN1	Q96NZ8	p.Arg119Cys	rs752714028	missense variant	-	NC_000016.10:g.632765C>T	ExAC,TOPMed
WFIKKN1	Q96NZ8	p.Arg119His	rs1008899748	missense variant	-	NC_000016.10:g.632766G>A	gnomAD
WFIKKN1	Q96NZ8	p.Arg119Gly	rs752714028	missense variant	-	NC_000016.10:g.632765C>G	ExAC,TOPMed
WFIKKN1	Q96NZ8	p.Cys120Phe	rs758361279	missense variant	-	NC_000016.10:g.632769G>T	ExAC
WFIKKN1	Q96NZ8	p.Glu121Gln	rs777829410	missense variant	-	NC_000016.10:g.632771G>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Glu121Gly	rs1383474895	missense variant	-	NC_000016.10:g.632772A>G	TOPMed
WFIKKN1	Q96NZ8	p.Glu121Lys	rs777829410	missense variant	-	NC_000016.10:g.632771G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Lys122Glu	rs751349958	missense variant	-	NC_000016.10:g.632774A>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu123Lys	rs1244725700	missense variant	-	NC_000016.10:g.632777G>A	gnomAD
WFIKKN1	Q96NZ8	p.Pro124Leu	rs757066205	missense variant	-	NC_000016.10:g.632781C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr127Ser	rs139111724	missense variant	-	NC_000016.10:g.632790C>G	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr127Pro	rs1015387816	missense variant	-	NC_000016.10:g.632789A>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr127Ile	rs139111724	missense variant	-	NC_000016.10:g.632790C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr127Ala	rs1015387816	missense variant	-	NC_000016.10:g.632789A>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys128Ter	rs768723920	stop gained	-	NC_000016.10:g.632794C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala129Thr	rs1170484195	missense variant	-	NC_000016.10:g.632795G>A	gnomAD
WFIKKN1	Q96NZ8	p.Ser130Leu	rs994605718	missense variant	-	NC_000016.10:g.632799C>T	gnomAD
WFIKKN1	Q96NZ8	p.Asp131His	rs773768921	missense variant	-	NC_000016.10:g.632801G>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly132Val	rs776155166	missense variant	-	NC_000016.10:g.632805G>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly132Ser	rs771270085	missense variant	-	NC_000016.10:g.632804G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu133Phe	rs759225515	missense variant	-	NC_000016.10:g.632807C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Thr134Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.632810A>G	NCI-TCGA
WFIKKN1	Q96NZ8	p.Asn137Ser	rs1034946475	missense variant	-	NC_000016.10:g.632820A>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg138Cys	rs762521285	missense variant	-	NC_000016.10:g.632822C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg138His	rs751498446	missense variant	-	NC_000016.10:g.632823G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg138Gly	rs762521285	missense variant	-	NC_000016.10:g.632822C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys139Ser	rs373234795	missense variant	-	NC_000016.10:g.632825T>A	ESP,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys139Arg	rs373234795	missense variant	-	NC_000016.10:g.632825T>C	ESP,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Met141Ile	rs1461721898	missense variant	-	NC_000016.10:g.632833G>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala143Ser	rs780971121	missense variant	-	NC_000016.10:g.632837G>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala143Thr	COSM435572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632837G>A	NCI-TCGA Cosmic
WFIKKN1	Q96NZ8	p.Ala143Val	COSM379076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632838C>T	NCI-TCGA Cosmic
WFIKKN1	Q96NZ8	p.Glu144Gln	rs779079658	missense variant	-	NC_000016.10:g.632840G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu144Lys	rs779079658	missense variant	-	NC_000016.10:g.632840G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala145Pro	rs1431016184	missense variant	-	NC_000016.10:g.632843G>C	gnomAD
WFIKKN1	Q96NZ8	p.Ala145Asp	rs748297233	missense variant	-	NC_000016.10:g.632844C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala145Val	rs748297233	missense variant	-	NC_000016.10:g.632844C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys146Tyr	rs913631372	missense variant	-	NC_000016.10:g.632847G>A	gnomAD
WFIKKN1	Q96NZ8	p.Arg148Trp	rs772129778	missense variant	-	NC_000016.10:g.632852C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg148Gln	rs778156475	missense variant	-	NC_000016.10:g.632853G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly149Ser	rs149216334	missense variant	-	NC_000016.10:g.632855G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly149Asp	rs1365577663	missense variant	-	NC_000016.10:g.632856G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu150Met	rs759955599	missense variant	-	NC_000016.10:g.632858C>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu152Phe	COSM3511201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.632864C>T	NCI-TCGA Cosmic
WFIKKN1	Q96NZ8	p.His153Arg	rs1340929297	missense variant	-	NC_000016.10:g.632868A>G	TOPMed
WFIKKN1	Q96NZ8	p.Ile154Met	rs544104251	missense variant	-	NC_000016.10:g.632872C>G	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ile154Val	rs775276803	missense variant	-	NC_000016.10:g.632870A>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Val155Met	rs774157032	missense variant	-	NC_000016.10:g.632873G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val155Leu	rs774157032	missense variant	-	NC_000016.10:g.632873G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro156Leu	rs761768121	missense variant	-	NC_000016.10:g.632877C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.His159Gln	rs374279728	missense variant	-	NC_000016.10:g.632887C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val160Met	rs1200903477	missense variant	-	NC_000016.10:g.632888G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu161Pro	rs750262036	missense variant	-	NC_000016.10:g.632892T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ser162Cys	rs1426425875	missense variant	-	NC_000016.10:g.632894A>T	TOPMed
WFIKKN1	Q96NZ8	p.Ser162Arg	rs755902478	missense variant	-	NC_000016.10:g.632896C>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Trp163Leu	rs1383349778	missense variant	-	NC_000016.10:g.632898G>T	TOPMed
WFIKKN1	Q96NZ8	p.Pro164Gln	rs374779276	missense variant	-	NC_000016.10:g.632901C>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro164Leu	rs374779276	missense variant	-	NC_000016.10:g.632901C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro165Ser	rs777871655	missense variant	-	NC_000016.10:g.632903C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Pro165His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.632904C>A	NCI-TCGA
WFIKKN1	Q96NZ8	p.Ser166Gly	rs1179144052	missense variant	-	NC_000016.10:g.632906A>G	TOPMed
WFIKKN1	Q96NZ8	p.Pro168Leu	rs562663373	missense variant	-	NC_000016.10:g.632913C>T	1000Genomes,TOPMed
WFIKKN1	Q96NZ8	p.Pro170Arg	rs746301177	missense variant	-	NC_000016.10:g.632919C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro170Leu	rs746301177	missense variant	-	NC_000016.10:g.632919C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro171Leu	rs199891171	missense variant	-	NC_000016.10:g.632922C>T	1000Genomes,ExAC,TOPMed
WFIKKN1	Q96NZ8	p.Pro171Arg	rs199891171	missense variant	-	NC_000016.10:g.632922C>G	1000Genomes,ExAC,TOPMed
WFIKKN1	Q96NZ8	p.Glu172Asp	rs368611876	missense variant	-	NC_000016.10:g.632926G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala175Thr	rs1303802738	missense variant	-	NC_000016.10:g.632933G>A	TOPMed
WFIKKN1	Q96NZ8	p.Arg176Cys	rs761200334	missense variant	-	NC_000016.10:g.632936C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg176His	rs767560879	missense variant	-	NC_000016.10:g.632937G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro179Arg	rs1291847637	missense variant	-	NC_000016.10:g.632946C>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro179Leu	rs1291847637	missense variant	-	NC_000016.10:g.632946C>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly180Glu	rs1482476501	missense variant	-	NC_000016.10:g.632949G>A	gnomAD
WFIKKN1	Q96NZ8	p.Ala181Asp	rs760480149	missense variant	-	NC_000016.10:g.632952C>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala181Pro	rs1203030723	missense variant	-	NC_000016.10:g.632951G>C	gnomAD
WFIKKN1	Q96NZ8	p.Ala182Val	rs752948422	missense variant	-	NC_000016.10:g.632955C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala182Thr	rs372338381	missense variant	-	NC_000016.10:g.632954G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro183Leu	rs1164511205	missense variant	-	NC_000016.10:g.632958C>T	gnomAD
WFIKKN1	Q96NZ8	p.Val184Met	rs751035842	missense variant	-	NC_000016.10:g.632960G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro185Leu	rs751699283	missense variant	-	NC_000016.10:g.632964C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu188Arg	rs1489673468	missense variant	-	NC_000016.10:g.632973T>G	TOPMed
WFIKKN1	Q96NZ8	p.Ser190Asn	rs1221398438	missense variant	-	NC_000016.10:g.632979G>A	TOPMed
WFIKKN1	Q96NZ8	p.Ser191Asn	rs1380376791	missense variant	-	NC_000016.10:g.632982G>A	gnomAD
WFIKKN1	Q96NZ8	p.Pro192Leu	rs781778911	missense variant	-	NC_000016.10:g.632985C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro194Ser	rs756548699	missense variant	-	NC_000016.10:g.632990C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro194Leu	rs1333960252	missense variant	-	NC_000016.10:g.632991C>T	gnomAD
WFIKKN1	Q96NZ8	p.Gln195Glu	rs1284231558	missense variant	-	NC_000016.10:g.632993C>G	TOPMed
WFIKKN1	Q96NZ8	p.Ala196Glu	rs199871787	missense variant	-	NC_000016.10:g.632997C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala196Val	rs199871787	missense variant	-	NC_000016.10:g.632997C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val197Met	rs1438866620	missense variant	-	NC_000016.10:g.632999G>A	gnomAD
WFIKKN1	Q96NZ8	p.Gln198Lys	rs1241668630	missense variant	-	NC_000016.10:g.633002C>A	gnomAD
WFIKKN1	Q96NZ8	p.Val199Ala	rs773874567	missense variant	-	NC_000016.10:g.633006T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly200Glu	rs747756333	missense variant	-	NC_000016.10:g.633009G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly200Arg	rs1346928367	missense variant	-	NC_000016.10:g.633008G>C	TOPMed
WFIKKN1	Q96NZ8	p.Gly200Val	rs747756333	missense variant	-	NC_000016.10:g.633009G>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala203Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.633018C>T	NCI-TCGA
WFIKKN1	Q96NZ8	p.Ser204Asn	rs1420370298	missense variant	-	NC_000016.10:g.633021G>A	gnomAD
WFIKKN1	Q96NZ8	p.Ser204Arg	rs1410448199	missense variant	-	NC_000016.10:g.633022C>A	gnomAD
WFIKKN1	Q96NZ8	p.Cys207Ter	rs145141720	stop gained	-	NC_000016.10:g.633031C>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys207Arg	rs1045502266	missense variant	-	NC_000016.10:g.633029T>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys207Ser	rs1353884843	missense variant	-	NC_000016.10:g.633030G>C	gnomAD
WFIKKN1	Q96NZ8	p.Asp208Gly	rs776460966	missense variant	-	NC_000016.10:g.633033A>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp208Asn	rs770735856	missense variant	-	NC_000016.10:g.633032G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp208Glu	rs368851660	missense variant	-	NC_000016.10:g.633034C>A	ESP,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Val209Phe	rs764442657	missense variant	-	NC_000016.10:g.633035G>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val209Ile	rs764442657	missense variant	-	NC_000016.10:g.633035G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser210Asn	rs1033993145	missense variant	-	NC_000016.10:g.633039G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly211Ser	rs751716442	missense variant	-	NC_000016.10:g.633041G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly211Asp	rs761966291	missense variant	-	NC_000016.10:g.633042G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg212Cys	rs767633977	missense variant	-	NC_000016.10:g.633044C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg212His	rs146880296	missense variant	-	NC_000016.10:g.633045G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro213Leu	rs780681967	missense variant	-	NC_000016.10:g.633048C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro214Arg	rs536112903	missense variant	-	NC_000016.10:g.633051C>G	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro214Leu	rs536112903	missense variant	-	NC_000016.10:g.633051C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala216Val	rs778645385	missense variant	-	NC_000016.10:g.633057C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala216Pro	rs1427046809	missense variant	-	NC_000016.10:g.633056G>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val217Ala	rs747694020	missense variant	-	NC_000016.10:g.633060T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Thr218Ile	rs1380157165	missense variant	-	NC_000016.10:g.633063C>T	gnomAD
WFIKKN1	Q96NZ8	p.Trp219Ter	rs919250632	stop gained	-	NC_000016.10:g.633067G>A	gnomAD
WFIKKN1	Q96NZ8	p.Trp219Cys	rs919250632	missense variant	-	NC_000016.10:g.633067G>C	gnomAD
WFIKKN1	Q96NZ8	p.Trp219Ter	rs777217246	stop gained	-	NC_000016.10:g.633066G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gln222Arg	rs746502397	missense variant	-	NC_000016.10:g.633075A>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gln222His	rs930684092	missense variant	-	NC_000016.10:g.633076G>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser223Thr	rs145644880	missense variant	-	NC_000016.10:g.633078G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser223Arg	rs1338434863	missense variant	-	NC_000016.10:g.633077A>C	TOPMed
WFIKKN1	Q96NZ8	p.Ser223Arg	rs201160815	missense variant	-	NC_000016.10:g.633079T>A	gnomAD
WFIKKN1	Q96NZ8	p.Ser223Asn	rs145644880	missense variant	-	NC_000016.10:g.633078G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser223Arg	rs201160815	missense variant	-	NC_000016.10:g.633079T>G	gnomAD
WFIKKN1	Q96NZ8	p.His224Asp	rs1267872551	missense variant	-	NC_000016.10:g.633080C>G	gnomAD
WFIKKN1	Q96NZ8	p.Arg226Gln	rs375372631	missense variant	-	NC_000016.10:g.633087G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg226Ter	rs769417699	stop gained	-	NC_000016.10:g.633086C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg226Gly	rs769417699	missense variant	-	NC_000016.10:g.633086C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg226Leu	rs375372631	missense variant	-	NC_000016.10:g.633087G>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu227Gln	rs1451267134	missense variant	-	NC_000016.10:g.633089G>C	gnomAD
WFIKKN1	Q96NZ8	p.Leu229Pro	rs369959131	missense variant	-	NC_000016.10:g.633096T>C	ESP,ExAC,TOPMed
WFIKKN1	Q96NZ8	p.Ile230Val	rs750577342	missense variant	-	NC_000016.10:g.633098A>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ile230Thr	rs760834766	missense variant	-	NC_000016.10:g.633099T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Met231Thr	rs767053633	missense variant	-	NC_000016.10:g.633102T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg232His	rs755378651	missense variant	-	NC_000016.10:g.633105G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg232Cys	rs754244342	missense variant	-	NC_000016.10:g.633104C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro233Ala	rs1185777171	missense variant	-	NC_000016.10:g.633107C>G	TOPMed
WFIKKN1	Q96NZ8	p.Gln235His	rs752418171	missense variant	-	NC_000016.10:g.633115G>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Met236Ile	rs758097121	missense variant	-	NC_000016.10:g.633118G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Met236Thr	rs1385160670	missense variant	-	NC_000016.10:g.633117T>C	gnomAD
WFIKKN1	Q96NZ8	p.Gly238Ala	rs1300708116	missense variant	-	NC_000016.10:g.633123G>C	gnomAD
WFIKKN1	Q96NZ8	p.Asn239Lys	rs777374847	missense variant	-	NC_000016.10:g.633127C>A	ExAC,TOPMed
WFIKKN1	Q96NZ8	p.Asn239Lys	COSM6145235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.633127C>G	NCI-TCGA Cosmic
WFIKKN1	Q96NZ8	p.Val241Leu	rs1272562414	missense variant	-	NC_000016.10:g.633131G>T	TOPMed
WFIKKN1	Q96NZ8	p.Val242Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.633135T>C	NCI-TCGA
WFIKKN1	Q96NZ8	p.Thr243Ser	rs746586513	missense variant	-	NC_000016.10:g.633138C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ile245Thr	rs896339917	missense variant	-	NC_000016.10:g.633144T>C	gnomAD
WFIKKN1	Q96NZ8	p.Ile245Val	rs770412833	missense variant	-	NC_000016.10:g.633143A>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly246Arg	rs756197830	missense variant	-	NC_000016.10:g.633146G>A	gnomAD
WFIKKN1	Q96NZ8	p.Gly246Glu	rs781202432	missense variant	-	NC_000016.10:g.633147G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gln247His	rs780040390	missense variant	-	NC_000016.10:g.633151G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val249Leu	rs569430619	missense variant	-	NC_000016.10:g.633155G>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val249Leu	rs569430619	missense variant	-	NC_000016.10:g.633155G>C	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Tyr251Ter	rs749086535	stop gained	-	NC_000016.10:g.633163C>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Tyr251Cys	rs1046564433	missense variant	-	NC_000016.10:g.633162A>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala253Val	rs760852810	missense variant	-	NC_000016.10:g.633168C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala253Thr	rs558214896	missense variant	-	NC_000016.10:g.633167G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg254Gln	rs373633253	missense variant	-	NC_000016.10:g.633171G>A	ESP,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg254Pro	rs373633253	missense variant	-	NC_000016.10:g.633171G>C	ESP,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg254Trp	rs1161349733	missense variant	-	NC_000016.10:g.633170C>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu256Gln	rs573223486	missense variant	-	NC_000016.10:g.633176G>C	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Glu256Ala	rs753045620	missense variant	-	NC_000016.10:g.633177A>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu256Lys	rs573223486	missense variant	-	NC_000016.10:g.633176G>A	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Asp257Gly	rs1393678787	missense variant	-	NC_000016.10:g.633180A>G	gnomAD
WFIKKN1	Q96NZ8	p.Ala258Thr	rs1382575055	missense variant	-	NC_000016.10:g.633182G>A	gnomAD
WFIKKN1	Q96NZ8	p.Gly259Ser	rs751150830	missense variant	-	NC_000016.10:g.633185G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly259Asp	rs1377206728	missense variant	-	NC_000016.10:g.633186G>A	gnomAD
WFIKKN1	Q96NZ8	p.Tyr261Cys	rs780523153	missense variant	-	NC_000016.10:g.633192A>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Thr262Asn	rs745839828	missense variant	-	NC_000016.10:g.633195C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr262Ile	rs745839828	missense variant	-	NC_000016.10:g.633195C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys263Trp	rs1479598189	missense variant	-	NC_000016.10:g.633199C>G	gnomAD
WFIKKN1	Q96NZ8	p.Cys263Ser	rs1306489371	missense variant	-	NC_000016.10:g.633197T>A	gnomAD
WFIKKN1	Q96NZ8	p.Thr264Ser	rs1011697016	missense variant	-	NC_000016.10:g.633201C>G	TOPMed
WFIKKN1	Q96NZ8	p.Thr264Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.633201C>T	NCI-TCGA
WFIKKN1	Q96NZ8	p.Ala265Ser	rs534050552	missense variant	-	NC_000016.10:g.633203G>T	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala265Val	rs189663636	missense variant	-	NC_000016.10:g.633204C>T	1000Genomes,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala265Thr	rs534050552	missense variant	-	NC_000016.10:g.633203G>A	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg266Cys	rs747194591	missense variant	-	NC_000016.10:g.633206C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg266His	rs771069827	missense variant	-	NC_000016.10:g.633207G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asn267Asp	rs776626760	missense variant	-	NC_000016.10:g.633209A>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala268Thr	rs765734403	missense variant	-	NC_000016.10:g.633212G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala269Pro	rs972285267	missense variant	-	NC_000016.10:g.633215G>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala269Thr	rs972285267	missense variant	-	NC_000016.10:g.633215G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly270Arg	rs776050398	missense variant	-	NC_000016.10:g.633218G>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu272Pro	rs1339125951	missense variant	-	NC_000016.10:g.633225T>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg273Gln	rs1381902003	missense variant	-	NC_000016.10:g.633228G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg273Gly	rs1383744970	missense variant	-	NC_000016.10:g.633227C>G	gnomAD
WFIKKN1	Q96NZ8	p.Leu278Phe	rs1342694696	missense variant	-	NC_000016.10:g.633242C>T	gnomAD
WFIKKN1	Q96NZ8	p.Ser279Ala	rs1473715397	missense variant	-	NC_000016.10:g.633245T>G	TOPMed
WFIKKN1	Q96NZ8	p.Val281Ile	rs997406859	missense variant	-	NC_000016.10:g.633251G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gln282Ter	rs1251754075	stop gained	-	NC_000016.10:g.633254C>T	gnomAD
WFIKKN1	Q96NZ8	p.Arg283Ter	rs751240346	stop gained	-	NC_000016.10:g.633257C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg283Gln	rs767176403	missense variant	-	NC_000016.10:g.633258G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg283Gly	rs751240346	missense variant	-	NC_000016.10:g.633257C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu284Gln	rs1461465556	missense variant	-	NC_000016.10:g.633260G>C	gnomAD
WFIKKN1	Q96NZ8	p.Pro285Leu	rs1185624952	missense variant	-	NC_000016.10:g.633264C>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg287Lys	rs930617030	missense variant	-	NC_000016.10:g.633270G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg287Thr	rs930617030	missense variant	-	NC_000016.10:g.633270G>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg287Gly	rs1429704108	missense variant	-	NC_000016.10:g.633269A>G	gnomAD
WFIKKN1	Q96NZ8	p.Ala289Thr	rs1016802547	missense variant	-	NC_000016.10:g.633275G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala290Asp	rs779870889	missense variant	-	NC_000016.10:g.633279C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala290Val	rs779870889	missense variant	-	NC_000016.10:g.633279C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro291Arg	rs754851833	missense variant	-	NC_000016.10:g.633282C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro291Ser	rs753762927	missense variant	-	NC_000016.10:g.633281C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ser292Gly	rs778801563	missense variant	-	NC_000016.10:g.633284A>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ser292Thr	rs1382792207	missense variant	-	NC_000016.10:g.633285G>C	gnomAD
WFIKKN1	Q96NZ8	p.Ser292Asn	rs1382792207	missense variant	-	NC_000016.10:g.633285G>A	gnomAD
WFIKKN1	Q96NZ8	p.Ser292Ile	rs1382792207	missense variant	-	NC_000016.10:g.633285G>T	gnomAD
WFIKKN1	Q96NZ8	p.Pro294Ala	rs771102109	missense variant	-	NC_000016.10:g.633290C>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Pro294Ser	rs771102109	missense variant	-	NC_000016.10:g.633290C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala295Pro	rs919264022	missense variant	-	NC_000016.10:g.633293G>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro296Leu	rs371241390	missense variant	-	NC_000016.10:g.633297C>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro296Gln	rs371241390	missense variant	-	NC_000016.10:g.633297C>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala297Val	rs769026528	missense variant	-	NC_000016.10:g.633300C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala297Asp	rs769026528	missense variant	-	NC_000016.10:g.633300C>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Glu298Gln	rs573708114	missense variant	-	NC_000016.10:g.633302G>C	1000Genomes,gnomAD
WFIKKN1	Q96NZ8	p.Glu298Lys	rs573708114	missense variant	-	NC_000016.10:g.633302G>A	1000Genomes,gnomAD
WFIKKN1	Q96NZ8	p.Pro301Leu	rs777490530	missense variant	-	NC_000016.10:g.633312C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro301Arg	rs777490530	missense variant	-	NC_000016.10:g.633312C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro301Ser	rs1386737348	missense variant	-	NC_000016.10:g.633311C>T	TOPMed
WFIKKN1	Q96NZ8	p.Val303Gly	rs1432553540	missense variant	-	NC_000016.10:g.633318T>G	TOPMed
WFIKKN1	Q96NZ8	p.Gln304Ter	rs1157394072	stop gained	-	NC_000016.10:g.633320C>T	gnomAD
WFIKKN1	Q96NZ8	p.Ala305Asp	rs544094050	missense variant	-	NC_000016.10:g.633324C>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala305Val	rs544094050	missense variant	-	NC_000016.10:g.633324C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys306Arg	rs778966841	missense variant	-	NC_000016.10:g.633326T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Cys306Tyr	rs1267251179	missense variant	-	NC_000016.10:g.633327G>A	TOPMed
WFIKKN1	Q96NZ8	p.Thr307Met	rs562689249	missense variant	-	NC_000016.10:g.633330C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly308Asp	rs201425753	missense variant	-	NC_000016.10:g.633333G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro309Leu	rs1368226062	missense variant	-	NC_000016.10:g.633336C>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro309Ser	rs377585241	missense variant	-	NC_000016.10:g.633335C>T	ESP,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Thr310Ile	rs1331050608	missense variant	-	NC_000016.10:g.633339C>T	TOPMed
WFIKKN1	Q96NZ8	p.Ser311Tyr	rs769791088	missense variant	-	NC_000016.10:g.633342C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser311Phe	rs769791088	missense variant	-	NC_000016.10:g.633342C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro312Ser	rs1318315460	missense variant	-	NC_000016.10:g.633344C>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro312Gln	rs749348107	missense variant	-	NC_000016.10:g.633345C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.His313Tyr	rs1170916752	missense variant	-	NC_000016.10:g.633347C>T	TOPMed
WFIKKN1	Q96NZ8	p.Leu316His	rs772416822	missense variant	-	NC_000016.10:g.633357T>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu316Phe	rs762140596	missense variant	-	NC_000016.10:g.633356C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Trp317Arg	rs1190505459	missense variant	-	NC_000016.10:g.633359T>C	TOPMed
WFIKKN1	Q96NZ8	p.His318Tyr	rs1175809029	missense variant	-	NC_000016.10:g.633362C>T	gnomAD
WFIKKN1	Q96NZ8	p.Asp320His	rs1419875009	missense variant	-	NC_000016.10:g.633368G>C	gnomAD
WFIKKN1	Q96NZ8	p.Pro321Leu	rs766108080	missense variant	-	NC_000016.10:g.633372C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gln322His	rs374981998	missense variant	-	NC_000016.10:g.633376G>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gln322Ter	rs753443079	stop gained	-	NC_000016.10:g.633374C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg323Gln	rs1441439422	missense variant	-	NC_000016.10:g.633378G>A	gnomAD
WFIKKN1	Q96NZ8	p.Arg323Trp	rs1350354172	missense variant	-	NC_000016.10:g.633377C>T	gnomAD
WFIKKN1	Q96NZ8	p.Gly324Asp	rs972218126	missense variant	-	NC_000016.10:g.633381G>A	gnomAD
WFIKKN1	Q96NZ8	p.Gly324Ser	rs752626044	missense variant	-	NC_000016.10:g.633380G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly325Ser	rs1356842902	missense variant	-	NC_000016.10:g.633383G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Met327Lys	rs1317496216	missense variant	-	NC_000016.10:g.633390T>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Met327Thr	rs1317496216	missense variant	-	NC_000016.10:g.633390T>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr328Ser	rs1247473493	missense variant	-	NC_000016.10:g.633393C>G	gnomAD
WFIKKN1	Q96NZ8	p.Pro330Leu	rs199689725	missense variant	-	NC_000016.10:g.633399C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro330Ala	rs1340619026	missense variant	-	NC_000016.10:g.633398C>G	TOPMed
WFIKKN1	Q96NZ8	p.Ala331Val	rs750629032	missense variant	-	NC_000016.10:g.633402C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg332His	rs1458547741	missense variant	-	NC_000016.10:g.633405G>A	gnomAD
WFIKKN1	Q96NZ8	p.Arg332Cys	rs756404188	missense variant	-	NC_000016.10:g.633404C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg332Ser	rs756404188	missense variant	-	NC_000016.10:g.633404C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly333Cys	rs780217966	missense variant	-	NC_000016.10:g.633407G>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.CysAsp334Ter	rs758376256	stop gained	-	NC_000016.10:g.633412_633413del	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly336Arg	rs1446702643	missense variant	-	NC_000016.10:g.633416G>A	gnomAD
WFIKKN1	Q96NZ8	p.Ala338Pro	rs1427781828	missense variant	-	NC_000016.10:g.633422G>C	TOPMed
WFIKKN1	Q96NZ8	p.Arg339Gly	rs755035873	missense variant	-	NC_000016.10:g.633425C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg339His	rs888953321	missense variant	-	NC_000016.10:g.633426G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg339Cys	rs755035873	missense variant	-	NC_000016.10:g.633425C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg339Ser	rs755035873	missense variant	-	NC_000016.10:g.633425C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly340Ser	rs938048030	missense variant	-	NC_000016.10:g.633428G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu342Asp	rs1380072980	missense variant	-	NC_000016.10:g.633436G>C	gnomAD
WFIKKN1	Q96NZ8	p.Glu342Lys	rs772346726	missense variant	-	NC_000016.10:g.633434G>A	ExAC,TOPMed
WFIKKN1	Q96NZ8	p.Glu345Lys	rs770778011	missense variant	-	NC_000016.10:g.633443G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala346Thr	rs776412951	missense variant	-	NC_000016.10:g.633446G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala346Ser	COSM4062124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.633446G>T	NCI-TCGA Cosmic
WFIKKN1	Q96NZ8	p.Cys347Arg	rs1213322875	missense variant	-	NC_000016.10:g.633449T>C	gnomAD
WFIKKN1	Q96NZ8	p.Gln349Ter	rs759132631	stop gained	-	NC_000016.10:g.633455C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala350Thr	rs775317491	missense variant	-	NC_000016.10:g.633458G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys351Arg	rs1462806299	missense variant	-	NC_000016.10:g.633461T>C	gnomAD
WFIKKN1	Q96NZ8	p.Arg353His	rs751410634	missense variant	-	NC_000016.10:g.633468G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg353Cys	rs763911373	missense variant	-	NC_000016.10:g.633467C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly354Asp	rs1466107054	missense variant	-	NC_000016.10:g.633471G>A	gnomAD
WFIKKN1	Q96NZ8	p.Gly354Ser	rs766644116	missense variant	-	NC_000016.10:g.633470G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly356Ser	rs1470746224	missense variant	-	NC_000016.10:g.633476G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly356Asp	rs778916519	missense variant	-	NC_000016.10:g.633477G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Asp357Asn	rs758984490	missense variant	-	NC_000016.10:g.633479G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala358Pro	rs747468855	missense variant	-	NC_000016.10:g.633482G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala358Thr	rs747468855	missense variant	-	NC_000016.10:g.633482G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val360Met	rs531380350	missense variant	-	NC_000016.10:g.633488G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu361Val	rs1326180881	missense variant	-	NC_000016.10:g.633491C>G	gnomAD
WFIKKN1	Q96NZ8	p.Pro362Arg	rs1201392892	missense variant	-	NC_000016.10:g.633495C>G	gnomAD
WFIKKN1	Q96NZ8	p.Ala363Pro	rs1298568015	missense variant	-	NC_000016.10:g.633497G>C	gnomAD
WFIKKN1	Q96NZ8	p.Val364Leu	rs745474912	missense variant	-	NC_000016.10:g.633500G>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val364Met	rs745474912	missense variant	-	NC_000016.10:g.633500G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly366Asp	rs1217994412	missense variant	-	NC_000016.10:g.633507G>A	gnomAD
WFIKKN1	Q96NZ8	p.Pro367Leu	rs1288216222	missense variant	-	NC_000016.10:g.633510C>T	TOPMed
WFIKKN1	Q96NZ8	p.Cys368Tyr	rs1209571796	missense variant	-	NC_000016.10:g.633513G>A	TOPMed
WFIKKN1	Q96NZ8	p.Arg369Gln	rs1040764831	missense variant	-	NC_000016.10:g.633516G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg369Trp	rs375549368	missense variant	-	NC_000016.10:g.633515C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly370Ala	rs933028005	missense variant	-	NC_000016.10:g.633519G>C	TOPMed
WFIKKN1	Q96NZ8	p.Trp371Arg	rs896927364	missense variant	-	NC_000016.10:g.633521T>C	TOPMed
WFIKKN1	Q96NZ8	p.Trp371Ter	rs1426941663	stop gained	-	NC_000016.10:g.633522G>A	gnomAD
WFIKKN1	Q96NZ8	p.Glu372Ter	rs1478850658	stop gained	-	NC_000016.10:g.633524G>T	gnomAD
WFIKKN1	Q96NZ8	p.Pro373Gln	rs569482474	missense variant	-	NC_000016.10:g.633528C>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro373Leu	rs569482474	missense variant	-	NC_000016.10:g.633528C>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg374Cys	rs540140699	missense variant	-	NC_000016.10:g.633530C>T	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg374His	rs1319688510	missense variant	-	NC_000016.10:g.633531G>A	gnomAD
WFIKKN1	Q96NZ8	p.Tyr377Cys	rs1360672574	missense variant	-	NC_000016.10:g.633540A>G	gnomAD
WFIKKN1	Q96NZ8	p.Tyr377Ter	rs1404874060	stop gained	-	NC_000016.10:g.633541C>G	gnomAD
WFIKKN1	Q96NZ8	p.Ser378Gly	rs952246918	missense variant	-	NC_000016.10:g.633542A>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro379Ser	rs551656103	missense variant	-	NC_000016.10:g.633545C>T	1000Genomes,gnomAD
WFIKKN1	Q96NZ8	p.Pro379Leu	rs566727225	missense variant	-	NC_000016.10:g.633546C>T	1000Genomes,ExAC,TOPMed
WFIKKN1	Q96NZ8	p.Cys384Tyr	rs1225736474	missense variant	-	NC_000016.10:g.633561G>A	gnomAD
WFIKKN1	Q96NZ8	p.His385Gln	rs1490227520	missense variant	-	NC_000016.10:g.633565T>G	gnomAD
WFIKKN1	Q96NZ8	p.His385Tyr	rs1286813892	missense variant	-	NC_000016.10:g.633563C>T	gnomAD
WFIKKN1	Q96NZ8	p.Pro386Leu	rs767230961	missense variant	-	NC_000016.10:g.633567C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Phe387Leu	rs754083591	missense variant	-	NC_000016.10:g.633571C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val388Met	rs1244099850	missense variant	-	NC_000016.10:g.633572G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val388Ala	rs1453284230	missense variant	-	NC_000016.10:g.633573T>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly390Arg	rs765346881	missense variant	-	NC_000016.10:g.633578G>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly390Ser	rs765346881	missense variant	-	NC_000016.10:g.633578G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Cys392Tyr	rs1479306014	missense variant	-	NC_000016.10:g.633585G>A	TOPMed
WFIKKN1	Q96NZ8	p.Glu393Gln	rs372514202	missense variant	-	NC_000016.10:g.633587G>C	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu393Lys	rs372514202	missense variant	-	NC_000016.10:g.633587G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly394Asp	rs778359474	missense variant	-	NC_000016.10:g.633591G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly394Ser	rs1380532903	missense variant	-	NC_000016.10:g.633590G>A	gnomAD
WFIKKN1	Q96NZ8	p.Asn395Lys	rs751947744	missense variant	-	NC_000016.10:g.633595C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly396Ser	rs757725451	missense variant	-	NC_000016.10:g.633596G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly396Asp	rs781647041	missense variant	-	NC_000016.10:g.633597G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asn398Lys	rs567320565	missense variant	-	NC_000016.10:g.633604C>G	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asn398Lys	rs567320565	missense variant	-	NC_000016.10:g.633604C>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Phe399Leu	rs1241449989	missense variant	-	NC_000016.10:g.633607C>A	gnomAD
WFIKKN1	Q96NZ8	p.His400Pro	rs1310182043	missense variant	-	NC_000016.10:g.633609A>C	gnomAD
WFIKKN1	Q96NZ8	p.Arg402Leu	rs1243812328	missense variant	-	NC_000016.10:g.633615G>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg402Cys	rs537883613	missense variant	-	NC_000016.10:g.633614C>T	1000Genomes,ExAC
WFIKKN1	Q96NZ8	p.Arg402His	rs1243812328	missense variant	-	NC_000016.10:g.633615G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu403Lys	rs748887303	missense variant	-	NC_000016.10:g.633617G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser404Asn	rs1210414250	missense variant	-	NC_000016.10:g.633621G>A	gnomAD
WFIKKN1	Q96NZ8	p.Ser404Arg	rs767991257	missense variant	-	NC_000016.10:g.633622C>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Cys405Tyr	rs774348196	missense variant	-	NC_000016.10:g.633624G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Cys405Ter	rs774889768	stop gained	-	NC_000016.10:g.633625C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu406Lys	rs773031156	missense variant	-	NC_000016.10:g.633626G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val411Leu	rs1003578086	missense variant	-	NC_000016.10:g.633641G>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val411Met	rs1003578086	missense variant	-	NC_000016.10:g.633641G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro412Leu	rs1458855344	missense variant	-	NC_000016.10:g.633645C>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg413His	rs752131312	missense variant	-	NC_000016.10:g.633648G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg413Cys	rs763100479	missense variant	-	NC_000016.10:g.633647C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg413Gly	rs763100479	missense variant	-	NC_000016.10:g.633647C>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Pro415Ser	rs943693707	missense variant	-	NC_000016.10:g.633653C>T	gnomAD
WFIKKN1	Q96NZ8	p.Pro415Leu	rs781753173	missense variant	-	NC_000016.10:g.633654C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys417Tyr	rs1226790193	missense variant	-	NC_000016.10:g.633660G>A	gnomAD
WFIKKN1	Q96NZ8	p.Cys417Ser	rs1226790193	missense variant	-	NC_000016.10:g.633660G>C	gnomAD
WFIKKN1	Q96NZ8	p.Arg418Gly	rs750881697	missense variant	-	NC_000016.10:g.633662C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg418Cys	rs750881697	missense variant	-	NC_000016.10:g.633662C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg418Ser	rs750881697	missense variant	-	NC_000016.10:g.633662C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg418His	rs756420931	missense variant	-	NC_000016.10:g.633663G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala419Thr	rs545289227	missense variant	-	NC_000016.10:g.633665G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala419Ser	rs545289227	missense variant	-	NC_000016.10:g.633665G>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys420Ser	rs1181432070	missense variant	-	NC_000016.10:g.633669G>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg421Cys	rs778336555	missense variant	-	NC_000016.10:g.633671C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg421His	rs374840117	missense variant	-	NC_000016.10:g.633672G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg421Ser	rs778336555	missense variant	-	NC_000016.10:g.633671C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu422Phe	rs1358124528	missense variant	-	NC_000016.10:g.633674C>T	TOPMed
WFIKKN1	Q96NZ8	p.Arg423Trp	rs200981073	missense variant	-	NC_000016.10:g.633677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Lys425Asn	rs1171800983	missense variant	-	NC_000016.10:g.633685G>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu426Val	rs1405880421	missense variant	-	NC_000016.10:g.633686C>G	gnomAD
WFIKKN1	Q96NZ8	p.Leu426Arg	rs1468423471	missense variant	-	NC_000016.10:g.633687T>G	gnomAD
WFIKKN1	Q96NZ8	p.Ala427Val	rs770568426	missense variant	-	NC_000016.10:g.633690C>T	ExAC
WFIKKN1	Q96NZ8	p.Ser429Gly	rs1381667184	missense variant	-	NC_000016.10:g.633695A>G	gnomAD
WFIKKN1	Q96NZ8	p.Ser429Arg	rs763034270	missense variant	-	NC_000016.10:g.633697C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg432His	rs761975795	missense variant	-	NC_000016.10:g.633705G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg432Cys	rs774608339	missense variant	-	NC_000016.10:g.633704C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ser433Asn	rs1322632195	missense variant	-	NC_000016.10:g.633708G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp434Asn	rs768196337	missense variant	-	NC_000016.10:g.633710G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala436Thr	rs1292603263	missense variant	-	NC_000016.10:g.633716G>A	-
WFIKKN1	Q96NZ8	p.Val438Ala	rs376775633	missense variant	-	NC_000016.10:g.633723T>C	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val438Met	rs572309026	missense variant	-	NC_000016.10:g.633722G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val438Leu	rs572309026	missense variant	-	NC_000016.10:g.633722G>C	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly439Arg	rs866967066	missense variant	-	NC_000016.10:g.633725G>C	TOPMed
WFIKKN1	Q96NZ8	p.Gly439Trp	rs866967066	missense variant	-	NC_000016.10:g.633725G>T	TOPMed
WFIKKN1	Q96NZ8	p.Arg440Trp	rs747716027	missense variant	-	NC_000016.10:g.633728C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg440Gln	rs929161621	missense variant	-	NC_000016.10:g.633729G>A	TOPMed
WFIKKN1	Q96NZ8	p.Leu441Phe	rs1429201336	missense variant	-	NC_000016.10:g.633731C>T	gnomAD
WFIKKN1	Q96NZ8	p.Thr442Met	rs1461906568	missense variant	-	NC_000016.10:g.633735C>T	TOPMed
WFIKKN1	Q96NZ8	p.Glu443Ter	rs1047833586	stop gained	-	NC_000016.10:g.633737G>T	TOPMed
WFIKKN1	Q96NZ8	p.Glu447Gly	rs1183001923	missense variant	-	NC_000016.10:g.633750A>G	TOPMed
WFIKKN1	Q96NZ8	p.Pro448His	rs1287168473	missense variant	-	NC_000016.10:g.633753C>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro448Ser	rs770785722	missense variant	-	NC_000016.10:g.633752C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Pro448Arg	rs1287168473	missense variant	-	NC_000016.10:g.633753C>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu449Asp	rs745641747	missense variant	-	NC_000016.10:g.633757G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala451Pro	rs531316698	missense variant	-	NC_000016.10:g.633761G>C	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala451Thr	rs531316698	missense variant	-	NC_000016.10:g.633761G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly452Cys	rs761997933	missense variant	-	NC_000016.10:g.633764G>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly452Ser	rs761997933	missense variant	-	NC_000016.10:g.633764G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly453Ser	rs761037038	missense variant	-	NC_000016.10:g.633767G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly453Asp	rs1229850753	missense variant	-	NC_000016.10:g.633768G>A	TOPMed
WFIKKN1	Q96NZ8	p.Ile454Asn	rs1283252396	missense variant	-	NC_000016.10:g.633771T>A	gnomAD
WFIKKN1	Q96NZ8	p.Ala455Val	rs754225608	missense variant	-	NC_000016.10:g.633774C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala455Thr	rs978169443	missense variant	-	NC_000016.10:g.633773G>A	gnomAD
WFIKKN1	Q96NZ8	p.Arg456His	rs764887078	missense variant	-	NC_000016.10:g.633777G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg456Cys	rs755357985	missense variant	-	NC_000016.10:g.633776C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Val457Met	rs752283984	missense variant	-	NC_000016.10:g.633779G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala458Glu	rs777219214	missense variant	-	NC_000016.10:g.633783C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala458Ser	rs925362090	missense variant	-	NC_000016.10:g.633782G>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala458Val	rs777219214	missense variant	-	NC_000016.10:g.633783C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala458Thr	rs925362090	missense variant	-	NC_000016.10:g.633782G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala458Pro	rs925362090	missense variant	-	NC_000016.10:g.633782G>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu459Val	rs781180224	missense variant	-	NC_000016.10:g.633785C>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Glu460Lys	rs1483364756	missense variant	-	NC_000016.10:g.633788G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp461Glu	rs911081394	missense variant	-	NC_000016.10:g.633793C>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp461Asn	rs533413955	missense variant	-	NC_000016.10:g.633791G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val462Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.633794G>A	NCI-TCGA
WFIKKN1	Q96NZ8	p.Leu463Phe	rs1295053894	missense variant	-	NC_000016.10:g.633797C>T	gnomAD
WFIKKN1	Q96NZ8	p.Asp465Asn	rs1210260061	missense variant	-	NC_000016.10:g.633803G>A	TOPMed
WFIKKN1	Q96NZ8	p.Lys467Glu	rs748341020	missense variant	-	NC_000016.10:g.633809A>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Met468Thr	rs1040998898	missense variant	-	NC_000016.10:g.633813T>C	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Met468Ile	rs772300719	missense variant	-	NC_000016.10:g.633814G>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu470Phe	rs202136863	missense variant	-	NC_000016.10:g.633818C>T	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu470Val	rs202136863	missense variant	-	NC_000016.10:g.633818C>G	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Phe472Leu	rs973723994	missense variant	-	NC_000016.10:g.633826C>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Phe472Leu	rs1224503947	missense variant	-	NC_000016.10:g.633824T>C	gnomAD
WFIKKN1	Q96NZ8	p.Gly474Cys	rs760804546	missense variant	-	NC_000016.10:g.633830G>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly474Arg	rs760804546	missense variant	-	NC_000016.10:g.633830G>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Thr475Ser	rs929215562	missense variant	-	NC_000016.10:g.633833A>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Lys476Arg	rs1440586435	missense variant	-	NC_000016.10:g.633837A>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Lys476Asn	rs771402329	missense variant	-	NC_000016.10:g.633838G>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Lys476Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.633836A>G	NCI-TCGA
WFIKKN1	Q96NZ8	p.Leu478Pro	rs1166744735	missense variant	-	NC_000016.10:g.633843T>C	gnomAD
WFIKKN1	Q96NZ8	p.Glu479Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.633845G>A	NCI-TCGA
WFIKKN1	Q96NZ8	p.Thr481Met	rs148108779	missense variant	-	NC_000016.10:g.633852C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu482Arg	rs752373758	missense variant	-	NC_000016.10:g.633855T>G	ExAC
WFIKKN1	Q96NZ8	p.Ser483Arg	rs200601222	missense variant	-	NC_000016.10:g.633857A>C	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Met485Ile	rs567457672	missense variant	-	NC_000016.10:g.633865G>T	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Met485Ile	rs567457672	missense variant	-	NC_000016.10:g.633865G>C	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Asp486Glu	rs1376424135	missense variant	-	NC_000016.10:g.633868C>A	gnomAD
WFIKKN1	Q96NZ8	p.Trp487Cys	rs1229544971	missense variant	-	NC_000016.10:g.633871G>C	gnomAD
WFIKKN1	Q96NZ8	p.Ala488Val	rs1291148591	missense variant	-	NC_000016.10:g.633873C>T	gnomAD
WFIKKN1	Q96NZ8	p.Ala488Thr	rs939387333	missense variant	-	NC_000016.10:g.633872G>A	TOPMed
WFIKKN1	Q96NZ8	p.Pro490Thr	rs781003010	missense variant	-	NC_000016.10:g.633878C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys491Ter	rs1463285963	stop gained	-	NC_000016.10:g.633883C>A	TOPMed
WFIKKN1	Q96NZ8	p.Pro492Leu	rs1458368305	missense variant	-	NC_000016.10:g.633885C>T	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro492Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.633884C>T	NCI-TCGA
WFIKKN1	Q96NZ8	p.Asn493Lys	rs750306090	missense variant	-	NC_000016.10:g.633889C>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Thr495Met	rs756002145	missense variant	-	NC_000016.10:g.633894C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala496Thr	rs1182540279	missense variant	-	NC_000016.10:g.633896G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ala496Glu	rs865824247	missense variant	-	NC_000016.10:g.633897C>A	gnomAD
WFIKKN1	Q96NZ8	p.Ala496Val	rs865824247	missense variant	-	NC_000016.10:g.633897C>T	gnomAD
WFIKKN1	Q96NZ8	p.Gly497Ser	rs1168242962	missense variant	-	NC_000016.10:g.633899G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp498Asn	rs778042658	missense variant	-	NC_000016.10:g.633902G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp498Val	rs747075183	missense variant	-	NC_000016.10:g.633903A>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly499Glu	rs759991504	missense variant	-	NC_000016.10:g.633906G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly499Arg	rs150348691	missense variant	-	NC_000016.10:g.633905G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Pro500Leu	rs138055478	missense variant	-	NC_000016.10:g.633909C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val502Ile	rs763295932	missense variant	-	NC_000016.10:g.633914G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Val502Asp	rs763791367	missense variant	-	NC_000016.10:g.633915T>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ile503Met	rs1434060660	missense variant	-	NC_000016.10:g.633919C>G	TOPMed
WFIKKN1	Q96NZ8	p.Ile503Val	rs1203443780	missense variant	-	NC_000016.10:g.633917A>G	gnomAD
WFIKKN1	Q96NZ8	p.Met504Thr	rs1276703731	missense variant	-	NC_000016.10:g.633921T>C	gnomAD
WFIKKN1	Q96NZ8	p.Val507Leu	rs1447547849	missense variant	-	NC_000016.10:g.633929G>C	gnomAD
WFIKKN1	Q96NZ8	p.Val507Ala	rs751163318	missense variant	-	NC_000016.10:g.633930T>C	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg508Cys	rs201006114	missense variant	-	NC_000016.10:g.633932C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg508Pro	rs143797074	missense variant	-	NC_000016.10:g.633933G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg508His	rs143797074	missense variant	-	NC_000016.10:g.633933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp509Asn	rs370450280	missense variant	-	NC_000016.10:g.633935G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp509His	rs370450280	missense variant	-	NC_000016.10:g.633935G>C	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly510Asp	rs756168741	missense variant	-	NC_000016.10:g.633939G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val511Met	rs572246113	missense variant	-	NC_000016.10:g.633941G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val511Leu	rs572246113	missense variant	-	NC_000016.10:g.633941G>T	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val513Met	rs747217977	missense variant	-	NC_000016.10:g.633947G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp515Val	rs1269957910	missense variant	-	NC_000016.10:g.633954A>T	TOPMed
WFIKKN1	Q96NZ8	p.Ala516Gly	rs1344154639	missense variant	-	NC_000016.10:g.633957C>G	gnomAD
WFIKKN1	Q96NZ8	p.Ala516Thr	rs770940609	missense variant	-	NC_000016.10:g.633956G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly517Ser	rs149512324	missense variant	-	NC_000016.10:g.633959G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gly517Asp	rs770349267	missense variant	-	NC_000016.10:g.633960G>A	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gly517Cys	rs149512324	missense variant	-	NC_000016.10:g.633959G>T	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Tyr519Ter	rs374492045	stop gained	-	NC_000016.10:g.633967C>G	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val520Asp	rs1347368501	missense variant	-	NC_000016.10:g.633969T>A	gnomAD
WFIKKN1	Q96NZ8	p.Val520Leu	rs377538077	missense variant	-	NC_000016.10:g.633968G>C	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val520Ile	rs377538077	missense variant	-	NC_000016.10:g.633968G>A	ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg521His	rs1283644595	missense variant	-	NC_000016.10:g.633972G>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg521Cys	rs761476941	missense variant	-	NC_000016.10:g.633971C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala522Thr	rs542877970	missense variant	-	NC_000016.10:g.633974G>A	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ala523Thr	rs760249916	missense variant	-	NC_000016.10:g.633977G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Ser524Arg	rs1197866710	missense variant	-	NC_000016.10:g.633982C>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu525Lys	rs370746314	missense variant	-	NC_000016.10:g.633983G>A	ESP,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Glu525Gln	rs370746314	missense variant	-	NC_000016.10:g.633983G>C	ESP,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Arg527Cys	rs374395816	missense variant	-	NC_000016.10:g.633989C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg527His	rs576026786	missense variant	-	NC_000016.10:g.633990G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val528Leu	rs781263225	missense variant	-	NC_000016.10:g.633992G>C	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val528Ile	rs781263225	missense variant	-	NC_000016.10:g.633992G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Val528Phe	rs781263225	missense variant	-	NC_000016.10:g.633992G>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Lys529Arg	rs1185038516	missense variant	-	NC_000016.10:g.633996A>G	TOPMed
WFIKKN1	Q96NZ8	p.Lys530Glu	rs756127097	missense variant	-	NC_000016.10:g.633998A>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Lys530Met	rs780540369	missense variant	-	NC_000016.10:g.633999A>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Leu532Phe	rs1413642772	missense variant	-	NC_000016.10:g.634006G>C	gnomAD
WFIKKN1	Q96NZ8	p.Gln538Glu	rs181304210	missense variant	-	NC_000016.10:g.634022C>G	1000Genomes,ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Gln538His	rs1242359924	missense variant	-	NC_000016.10:g.634024G>C	gnomAD
WFIKKN1	Q96NZ8	p.Ala539Val	rs748428713	missense variant	-	NC_000016.10:g.634026C>T	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Cys540Gly	rs927764568	missense variant	-	NC_000016.10:g.634028T>G	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Cys540Ter	rs1354304168	stop gained	-	NC_000016.10:g.634030C>A	TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu541Lys	rs564687456	missense variant	-	NC_000016.10:g.634031G>A	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Glu541Gln	rs564687456	missense variant	-	NC_000016.10:g.634031G>C	1000Genomes,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Leu542Pro	rs1453053998	missense variant	-	NC_000016.10:g.634035T>C	gnomAD
WFIKKN1	Q96NZ8	p.Leu542Val	rs772941811	missense variant	-	NC_000016.10:g.634034C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asn544Ser	rs186832772	missense variant	-	NC_000016.10:g.634041A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg545Leu	rs765058624	missense variant	-	NC_000016.10:g.634044G>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg545Gly	rs759569413	missense variant	-	NC_000016.10:g.634043C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg545Cys	rs759569413	missense variant	-	NC_000016.10:g.634043C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Arg545His	rs765058624	missense variant	-	NC_000016.10:g.634044G>A	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Phe546Tyr	rs1393534207	missense variant	-	NC_000016.10:g.634047T>A	gnomAD
WFIKKN1	Q96NZ8	p.Phe546Leu	rs752608384	missense variant	-	NC_000016.10:g.634048C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gln547Glu	rs758112355	missense variant	-	NC_000016.10:g.634049C>G	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Gln547Ter	rs758112355	stop gained	-	NC_000016.10:g.634049C>T	ExAC,TOPMed,gnomAD
WFIKKN1	Q96NZ8	p.Asp548Gly	rs767789787	missense variant	-	NC_000016.10:g.634053A>G	ExAC,gnomAD
WFIKKN1	Q96NZ8	p.Ter549Glu	rs1457424191	stop lost	-	NC_000016.10:g.634055T>G	TOPMed
COL21A1	Q96P44	p.Ala2Asp	rs1268589279	missense variant	-	NC_000006.12:g.56182614G>T	gnomAD
COL21A1	Q96P44	p.His3Gln	rs61738362	missense variant	-	NC_000006.12:g.56182610G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.His3Gln	rs61738362	missense variant	-	NC_000006.12:g.56182610G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile5Thr	rs1358988410	missense variant	-	NC_000006.12:g.56182605A>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Ile5Met	rs948082801	missense variant	-	NC_000006.12:g.56182604A>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Thr6Ile	rs147394600	missense variant	-	NC_000006.12:g.56182602G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Leu8Phe	COSM5405665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56182597G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Leu8Val	COSM4825388	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56182597G>C	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Cys9Phe	rs1037804755	missense variant	-	NC_000006.12:g.56182593C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Met10Lys	rs1297693419	missense variant	-	NC_000006.12:g.56182590A>T	gnomAD
COL21A1	Q96P44	p.Leu12Ter	rs1221575370	stop gained	-	NC_000006.12:g.56182584A>T	gnomAD
COL21A1	Q96P44	p.Leu16Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56182572A>C	NCI-TCGA
COL21A1	Q96P44	p.Leu16Ile	COSM5030216	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56182573G>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gln17Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56182570G>A	NCI-TCGA
COL21A1	Q96P44	p.Ser19Phe	rs1303517343	missense variant	-	NC_000006.12:g.56182563G>A	gnomAD
COL21A1	Q96P44	p.Ser19Tyr	COSM3158462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56182563G>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ser19Phe	rs1303517343	missense variant	-	NC_000006.12:g.56182563G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Val20Ala	rs771610506	missense variant	-	NC_000006.12:g.56182560A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Leu21Ile	rs1462075066	missense variant	-	NC_000006.12:g.56182558A>T	gnomAD
COL21A1	Q96P44	p.Asp24Gly	rs756857792	missense variant	-	NC_000006.12:g.56182548T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Asp24Val	rs756857792	missense variant	-	NC_000006.12:g.56182548T>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly25Ala	rs1446713627	missense variant	-	NC_000006.12:g.56182545C>G	TOPMed
COL21A1	Q96P44	p.Glu26Asp	rs781642466	missense variant	-	NC_000006.12:g.56182541T>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Glu26Asp	rs781642466	missense variant	-	NC_000006.12:g.56182541T>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Val27Ile	rs755565184	missense variant	-	NC_000006.12:g.56182540C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Arg28Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56182536C>T	NCI-TCGA
COL21A1	Q96P44	p.Ser29Leu	rs373575633	missense variant	-	NC_000006.12:g.56182533G>A	NCI-TCGA,NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ser29Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56182533G>C	NCI-TCGA
COL21A1	Q96P44	p.Ser29Leu	rs373575633	missense variant	-	NC_000006.12:g.56182533G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser29Ala	rs766965698	missense variant	-	NC_000006.12:g.56182534A>C	ExAC,gnomAD
COL21A1	Q96P44	p.Ser30Arg	rs908066111	missense variant	-	NC_000006.12:g.56182531T>G	TOPMed
COL21A1	Q96P44	p.Ser30Gly	rs908066111	missense variant	-	NC_000006.12:g.56182531T>C	TOPMed
COL21A1	Q96P44	p.Arg32Cys	rs959481391	missense variant	-	NC_000006.12:g.56180124G>A	TOPMed
COL21A1	Q96P44	p.Arg32His	rs1338004950	missense variant	-	NC_000006.12:g.56180123C>T	gnomAD
COL21A1	Q96P44	p.Thr33Ile	rs769782334	missense variant	-	NC_000006.12:g.56180120G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ala34Ser	rs1383327752	missense variant	-	NC_000006.12:g.56180118C>A	gnomAD
COL21A1	Q96P44	p.Ala34Val	COSM6174882	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56180117G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro35Leu	rs780767815	missense variant	-	NC_000006.12:g.56180114G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp37Asn	COSM3628934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56180109C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Val39Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56180102A>G	NCI-TCGA
COL21A1	Q96P44	p.Phe40Leu	rs1454568071	missense variant	-	NC_000006.12:g.56180100A>G	gnomAD
COL21A1	Q96P44	p.Ile41Met	COSM1312322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56180095G>C	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Asp43Gly	rs750525732	missense variant	-	NC_000006.12:g.56180090T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly44Asp	rs757528259	missense variant	-	NC_000006.12:g.56180087C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Ser47Arg	rs1260889640	missense variant	-	NC_000006.12:g.56180077A>T	gnomAD
COL21A1	Q96P44	p.Ser47Gly	rs764276366	missense variant	-	NC_000006.12:g.56180079T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Phe53Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56180061A>T	NCI-TCGA
COL21A1	Q96P44	p.Phe53Val	rs767495439	missense variant	-	NC_000006.12:g.56180061A>C	ExAC,gnomAD
COL21A1	Q96P44	p.Val56Met	rs1359610509	missense variant	-	NC_000006.12:g.56180052C>T	gnomAD
COL21A1	Q96P44	p.Lys57Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56180047T>A	NCI-TCGA
COL21A1	Q96P44	p.Lys57Glu	rs1285431986	missense variant	-	NC_000006.12:g.56180049T>C	gnomAD
COL21A1	Q96P44	p.Trp59Ter	rs773936512	stop gained	-	NC_000006.12:g.56180042C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Leu60His	rs1318205530	missense variant	-	NC_000006.12:g.56180039A>T	gnomAD
COL21A1	Q96P44	p.Val61Phe	rs199696799	missense variant	-	NC_000006.12:g.56180037C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Asn62Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56180033T>G	NCI-TCGA
COL21A1	Q96P44	p.Asn62Lys	rs564829954	missense variant	-	NC_000006.12:g.56180032A>T	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Asn62Tyr	rs769561756	missense variant	-	NC_000006.12:g.56180034T>A	ExAC
COL21A1	Q96P44	p.Asn62His	rs769561756	missense variant	-	NC_000006.12:g.56180034T>G	ExAC
COL21A1	Q96P44	p.Thr64Lys	rs779440801	missense variant	-	NC_000006.12:g.56180027G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Thr64Ile	rs779440801	missense variant	-	NC_000006.12:g.56180027G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Lys65Asn	rs1165089054	missense variant	-	NC_000006.12:g.56180023T>G	gnomAD
COL21A1	Q96P44	p.Lys65Glu	rs757328990	missense variant	-	NC_000006.12:g.56180025T>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Lys65Ter	rs757328990	stop gained	-	NC_000006.12:g.56180025T>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asn66Thr	rs753898954	missense variant	-	NC_000006.12:g.56180021T>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asn66Lys	rs778035421	missense variant	-	NC_000006.12:g.56180020G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Asp68Val	rs1193778671	missense variant	-	NC_000006.12:g.56180015T>A	gnomAD
COL21A1	Q96P44	p.Ile69Thr	rs1223201789	missense variant	-	NC_000006.12:g.56180012A>G	TOPMed
COL21A1	Q96P44	p.Pro71Leu	rs373314290	missense variant	-	NC_000006.12:g.56180006G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Lys72Glu	COSM1445268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56180004T>C	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gln75Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56179995G>C	NCI-TCGA
COL21A1	Q96P44	p.Val76Ala	rs1490415201	missense variant	-	NC_000006.12:g.56179991A>G	gnomAD
COL21A1	Q96P44	p.Gly77Val	rs767169171	missense variant	-	NC_000006.12:g.56179988C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Val78Met	rs759550937	missense variant	-	NC_000006.12:g.56179986C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Val79CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56179964_56179983GGGTAGTCACTATATTGAAC>-	NCI-TCGA
COL21A1	Q96P44	p.Gln80Ter	COSM3922025	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56179980G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Tyr81Cys	rs946098773	missense variant	-	NC_000006.12:g.56179976T>C	TOPMed
COL21A1	Q96P44	p.Tyr81His	rs1270179415	missense variant	-	NC_000006.12:g.56179977A>G	gnomAD
COL21A1	Q96P44	p.Ser82Arg	rs751494999	missense variant	-	NC_000006.12:g.56179972A>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser82Cys	rs1486483346	missense variant	-	NC_000006.12:g.56179974T>A	TOPMed
COL21A1	Q96P44	p.Pro85Arg	rs1301668074	missense variant	-	NC_000006.12:g.56179964G>C	gnomAD
COL21A1	Q96P44	p.Val86Leu	rs368935187	missense variant	-	NC_000006.12:g.56179962C>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile89Met	rs1325718694	missense variant	-	NC_000006.12:g.56179951A>C	gnomAD
COL21A1	Q96P44	p.Pro90His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56179949G>T	NCI-TCGA
COL21A1	Q96P44	p.Pro90Leu	COSM3628928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179949G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro90Ser	COSM3628931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179950G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly92Arg	rs772848970	missense variant	-	NC_000006.12:g.56179944C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly92Arg	rs772848970	missense variant	-	NC_000006.12:g.56179944C>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly92Arg	rs772848970	missense variant	-	NC_000006.12:g.56179944C>T	NCI-TCGA
COL21A1	Q96P44	p.Gly92Glu	COSM3628925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179943C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ser93Asn	rs1171376495	missense variant	-	NC_000006.12:g.56179940C>T	gnomAD
COL21A1	Q96P44	p.Ser93Ile	rs1171376495	missense variant	-	NC_000006.12:g.56179940C>A	gnomAD
COL21A1	Q96P44	p.Tyr94Asp	rs373996991	missense variant	-	NC_000006.12:g.56179938A>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Tyr94His	rs373996991	missense variant	-	NC_000006.12:g.56179938A>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp95Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56179935C>A	NCI-TCGA
COL21A1	Q96P44	p.Ser96Leu	COSM3922022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179931G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.His99Tyr	rs772359277	missense variant	-	NC_000006.12:g.56179923G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Leu100Phe	rs746219972	missense variant	-	NC_000006.12:g.56179918C>G	ExAC,gnomAD
COL21A1	Q96P44	p.Thr101ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56179918C>-	NCI-TCGA
COL21A1	Q96P44	p.Thr101Met	rs538369254	missense variant	-	NC_000006.12:g.56179916G>A	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Thr101Met	rs538369254	missense variant	-	NC_000006.12:g.56179916G>A	NCI-TCGA
COL21A1	Q96P44	p.Ala102Val	rs771422670	missense variant	-	NC_000006.12:g.56179913G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Glu105Lys	rs777772961	missense variant	-	NC_000006.12:g.56179905C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser106Thr	rs756352021	missense variant	-	NC_000006.12:g.56179902A>T	ExAC,gnomAD
COL21A1	Q96P44	p.Ser106Tyr	rs542671242	missense variant	-	NC_000006.12:g.56179901G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser106Phe	rs542671242	missense variant	-	NC_000006.12:g.56179901G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile107Met	rs754781805	missense variant	-	NC_000006.12:g.56179897T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Ile107Leu	rs1368717968	missense variant	-	NC_000006.12:g.56179899T>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Ile107Val	rs1368717968	missense variant	-	NC_000006.12:g.56179899T>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Tyr109Cys	rs1317583265	missense variant	-	NC_000006.12:g.56179892T>C	TOPMed
COL21A1	Q96P44	p.Gly111Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56179887C>T	NCI-TCGA
COL21A1	Q96P44	p.Gly111Glu	COSM226163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179886C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly112Glu	COSM3628920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179883C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly112Arg	COSM4860614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179884C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Thr114Lys	rs766298636	missense variant	-	NC_000006.12:g.56179877G>T	ExAC,TOPMed
COL21A1	Q96P44	p.Lys115Met	rs993166095	missense variant	-	NC_000006.12:g.56179874T>A	TOPMed
COL21A1	Q96P44	p.Lys115Asn	COSM1445266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179873C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly117Glu	COSM3628917	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179868C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ala119Thr	rs372920341	missense variant	-	NC_000006.12:g.56179863C>T	ESP,ExAC,gnomAD
COL21A1	Q96P44	p.Ala123Val	rs1018709010	missense variant	-	NC_000006.12:g.56179850G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Leu124Pro	rs763788494	missense variant	-	NC_000006.12:g.56179847A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Asp125Asn	rs1009121320	missense variant	-	NC_000006.12:g.56179845C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Asp125Tyr	rs1009121320	missense variant	-	NC_000006.12:g.56179845C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Asp125Asn	rs1009121320	missense variant	-	NC_000006.12:g.56179845C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Tyr126His	rs1179980381	missense variant	-	NC_000006.12:g.56179842A>G	gnomAD
COL21A1	Q96P44	p.Leu127Val	rs774711115	missense variant	-	NC_000006.12:g.56179839G>C	ExAC,gnomAD
COL21A1	Q96P44	p.Ser132Thr	rs771442755	missense variant	-	NC_000006.12:g.56179824A>T	ExAC,gnomAD
COL21A1	Q96P44	p.Arg133Ter	rs749746863	stop gained	-	NC_000006.12:g.56179821G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg133Ter	rs749746863	stop gained	-	NC_000006.12:g.56179821G>A	NCI-TCGA,NCI-TCGA Cosmic
COL21A1	Q96P44	p.Arg133Gln	COSM260217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179820C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Thr136Ile	rs368558141	missense variant	-	NC_000006.12:g.56179811G>A	ESP,ExAC,gnomAD
COL21A1	Q96P44	p.Ile138Thr	rs769903638	missense variant	-	NC_000006.12:g.56179805A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Ile138Met	rs1310209410	missense variant	-	NC_000006.12:g.56179804T>C	gnomAD
COL21A1	Q96P44	p.Val140Gly	rs376621092	missense variant	-	NC_000006.12:g.56179799A>C	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Val141Ile	rs902837529	missense variant	-	NC_000006.12:g.56179797C>T	gnomAD
COL21A1	Q96P44	p.Leu142Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56179793A>C	NCI-TCGA
COL21A1	Q96P44	p.Thr143Met	rs372065490	missense variant	-	NC_000006.12:g.56179790G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp144His	rs746787409	missense variant	-	NC_000006.12:g.56179788C>G	ExAC,gnomAD
COL21A1	Q96P44	p.Asp144Asn	COSM3628908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179788C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly145Ser	rs779941629	missense variant	-	NC_000006.12:g.56179785C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Gly145Asp	rs1380565278	missense variant	-	NC_000006.12:g.56179784C>T	gnomAD
COL21A1	Q96P44	p.Val151Ile	rs765241387	missense variant	-	NC_000006.12:g.56179767C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp153His	rs1261180407	missense variant	-	NC_000006.12:g.56179761C>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Asp153Gly	rs756774073	missense variant	-	NC_000006.12:g.56179760T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Ala154Glu	rs753381358	missense variant	-	NC_000006.12:g.56179757G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Ala155Ser	rs760316856	missense variant	-	NC_000006.12:g.56179755C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ala155Thr	COSM3874905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179755C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gln156Leu	rs191617495	missense variant	-	NC_000006.12:g.56179751T>A	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Gln156Ter	rs1316649426	stop gained	-	NC_000006.12:g.56179752G>A	gnomAD
COL21A1	Q96P44	p.Ala157Val	COSM3628905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179748G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ala158Thr	rs186487067	missense variant	-	NC_000006.12:g.56179746C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg159Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56179742C>T	NCI-TCGA
COL21A1	Q96P44	p.Arg159Gly	rs773759222	missense variant	-	NC_000006.12:g.56179743T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Asp160Gly	rs770275763	missense variant	-	NC_000006.12:g.56179739T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Asp160Asn	rs1314451383	missense variant	-	NC_000006.12:g.56179740C>T	gnomAD
COL21A1	Q96P44	p.Ser161Asn	rs748246418	missense variant	-	NC_000006.12:g.56179736C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Lys162Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56179732C>A	NCI-TCGA
COL21A1	Q96P44	p.Lys162Asn	COSM4860741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179732C>G	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ile163Leu	rs1484540176	missense variant	-	NC_000006.12:g.56179731T>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Thr164Ile	rs370731926	missense variant	-	NC_000006.12:g.56179727G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Thr164Pro	rs1261774991	missense variant	-	NC_000006.12:g.56179728T>G	gnomAD
COL21A1	Q96P44	p.Phe166Leu	COSM3874902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179722A>G	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ala167Pro	rs367830538	missense variant	-	NC_000006.12:g.56179719C>G	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile168Thr	rs1280471477	missense variant	-	NC_000006.12:g.56179715A>G	gnomAD
COL21A1	Q96P44	p.Gly169Ala	rs780389287	missense variant	-	NC_000006.12:g.56179712C>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gly169Val	rs780389287	missense variant	-	NC_000006.12:g.56179712C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ser172Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56179703G>C	NCI-TCGA
COL21A1	Q96P44	p.Ser172Pro	rs535353556	missense variant	-	NC_000006.12:g.56179704A>G	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Glu173Lys	rs779058776	missense variant	-	NC_000006.12:g.56179701C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Thr174Ala	COSM3411214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179698T>C	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu175Asp	rs572669773	missense variant	-	NC_000006.12:g.56179693T>G	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Glu175Lys	COSM3628902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179695C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Asp176Asn	COSM4946714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179692C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ala177Thr	rs755753915	missense variant	-	NC_000006.12:g.56179689C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Ala177Val	COSM3628899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179688G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu178Asp	rs1444584162	missense variant	-	NC_000006.12:g.56179684T>G	TOPMed
COL21A1	Q96P44	p.Glu178Gln	rs181443791	missense variant	-	NC_000006.12:g.56179686C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Glu178AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56179687G>-	NCI-TCGA
COL21A1	Q96P44	p.Glu178Ter	rs181443791	stop gained	-	NC_000006.12:g.56179686C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Glu178Lys	rs181443791	missense variant	-	NC_000006.12:g.56179686C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg180Gly	rs1219144852	missense variant	-	NC_000006.12:g.56179680T>C	gnomAD
COL21A1	Q96P44	p.Arg180Lys	rs750786084	missense variant	-	NC_000006.12:g.56179679C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ala181Thr	rs765741400	missense variant	-	NC_000006.12:g.56179677C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Ile182Val	rs1323530981	missense variant	-	NC_000006.12:g.56179674T>C	gnomAD
COL21A1	Q96P44	p.Ala183Thr	COSM260215	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179671C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Asn184Ser	rs776601842	missense variant	-	NC_000006.12:g.56179667T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Lys185Glu	rs760646871	missense variant	-	NC_000006.12:g.56179665T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Pro186Ser	rs1279868794	missense variant	-	NC_000006.12:g.56179662G>A	gnomAD
COL21A1	Q96P44	p.Ser187Leu	rs775643069	missense variant	-	NC_000006.12:g.56179658G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser188Cys	rs770795657	missense variant	-	NC_000006.12:g.56179655G>C	ExAC,gnomAD
COL21A1	Q96P44	p.Tyr193His	rs370912776	missense variant	-	NC_000006.12:g.56179641A>G	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ala199Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56179623C>T	NCI-TCGA
COL21A1	Q96P44	p.Ala199Glu	COSM4862684	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56179622G>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ser201Cys	rs1469217012	missense variant	-	NC_000006.12:g.56179616G>C	gnomAD
COL21A1	Q96P44	p.Ile203Arg	rs780891873	missense variant	-	NC_000006.12:g.56179610A>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile203Thr	rs780891873	missense variant	-	NC_000006.12:g.56179610A>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg204Lys	rs377305296	missense variant	-	NC_000006.12:g.56179607C>T	ESP,ExAC,gnomAD
COL21A1	Q96P44	p.Arg204Thr	rs377305296	missense variant	-	NC_000006.12:g.56179607C>G	ESP,ExAC,gnomAD
COL21A1	Q96P44	p.Glu205Lys	rs562696627	missense variant	-	NC_000006.12:g.56179605C>T	TOPMed
COL21A1	Q96P44	p.Glu205Asp	rs758003301	missense variant	-	NC_000006.12:g.56179603T>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Val206Gly	rs1424158922	missense variant	-	NC_000006.12:g.56179601A>C	gnomAD
COL21A1	Q96P44	p.Met207Leu	rs762048646	missense variant	-	NC_000006.12:g.56179599T>A	ExAC,gnomAD
COL21A1	Q96P44	p.Cys212Gly	rs1221486826	missense variant	-	NC_000006.12:g.56179584A>C	gnomAD
COL21A1	Q96P44	p.Glu214Asp	rs541217171	missense variant	-	NC_000006.12:g.56171127T>G	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Glu214Gln	rs1344613768	missense variant	-	NC_000006.12:g.56179578C>G	gnomAD
COL21A1	Q96P44	p.Ser215Phe	COSM3628890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171125G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro218Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56171117G>T	NCI-TCGA
COL21A1	Q96P44	p.Thr219Lys	rs1451095162	missense variant	-	NC_000006.12:g.56171113G>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Thr219Ala	rs1483921760	missense variant	-	NC_000006.12:g.56171114T>C	TOPMed
COL21A1	Q96P44	p.Arg220Ter	rs202026963	stop gained	-	NC_000006.12:g.56171111G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg220Gln	rs267601087	missense variant	-	NC_000006.12:g.56171110C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Ile221Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56171108T>C	NCI-TCGA
COL21A1	Q96P44	p.Ile221Phe	rs1467861809	missense variant	-	NC_000006.12:g.56171108T>A	gnomAD
COL21A1	Q96P44	p.Pro222Leu	rs912012710	missense variant	-	NC_000006.12:g.56171104G>A	TOPMed
COL21A1	Q96P44	p.Val223Ala	rs752844827	missense variant	-	NC_000006.12:g.56171101A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Ala224Val	rs759656954	missense variant	-	NC_000006.12:g.56171098G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ala224Ser	COSM1131828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171099C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ala225Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56171096C>G	NCI-TCGA
COL21A1	Q96P44	p.Ala225Val	rs1240096504	missense variant	-	NC_000006.12:g.56171095G>A	gnomAD
COL21A1	Q96P44	p.Arg226Cys	rs368730001	missense variant	-	NC_000006.12:g.56171093G>A	ESP,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg226His	rs572301223	missense variant	-	NC_000006.12:g.56171092C>T	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg226Leu	rs572301223	missense variant	-	NC_000006.12:g.56171092C>A	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp227Glu	COSM6107342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171088A>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu228Ter	rs1201996778	stop gained	-	NC_000006.12:g.56171087C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Glu228Lys	COSM4896248	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171087C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu228Ala	rs1484744905	missense variant	-	NC_000006.12:g.56171086T>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Arg229Lys	rs200708113	missense variant	-	NC_000006.12:g.56171083C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg229Gly	rs1260435721	missense variant	-	NC_000006.12:g.56171084T>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly230Val	rs1355316937	missense variant	-	NC_000006.12:g.56171080C>A	gnomAD
COL21A1	Q96P44	p.Gly230Arg	rs267601086	missense variant	-	NC_000006.12:g.56171081C>T	gnomAD
COL21A1	Q96P44	p.Asp232Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56171075C>A	NCI-TCGA
COL21A1	Q96P44	p.Asp232Asn	COSM3628883	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171075C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ile233Val	rs762875794	missense variant	-	NC_000006.12:g.56171072T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Leu234Ile	COSM280048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171069G>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Leu234Phe	rs772818234	missense variant	-	NC_000006.12:g.56171069G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Leu235Ser	rs769786517	missense variant	-	NC_000006.12:g.56171065A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Asp238Glu	rs199532612	missense variant	-	NC_000006.12:g.56171055A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp238Gly	rs970261591	missense variant	-	NC_000006.12:g.56171056T>C	TOPMed
COL21A1	Q96P44	p.Asp238Glu	rs199532612	missense variant	-	NC_000006.12:g.56171055A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Val239Ala	rs746504870	missense variant	-	NC_000006.12:g.56171053A>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Lys241Glu	rs779819458	missense variant	-	NC_000006.12:g.56171048T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Lys242Asn	rs757920108	missense variant	-	NC_000006.12:g.56171043C>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Lys244Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56171037C>G	NCI-TCGA
COL21A1	Q96P44	p.Lys245LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56171036_56171037insAGGTTTAGATGTAAATAAAAAG	NCI-TCGA
COL21A1	Q96P44	p.Arg246Ile	COSM274610	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171032C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ile247Met	rs749674899	missense variant	-	NC_000006.12:g.56171028T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Ile247Thr	rs1382342502	missense variant	-	NC_000006.12:g.56171029A>G	gnomAD
COL21A1	Q96P44	p.Gln248Ter	rs1472486062	stop gained	-	NC_000006.12:g.56171027G>A	gnomAD
COL21A1	Q96P44	p.Leu249Val	rs777949556	missense variant	-	NC_000006.12:g.56171024G>C	ExAC,gnomAD
COL21A1	Q96P44	p.Lys252Glu	rs1426565324	missense variant	-	NC_000006.12:g.56171015T>C	gnomAD
COL21A1	Q96P44	p.Lys253Arg	rs756720309	missense variant	-	NC_000006.12:g.56171011T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Lys253ArgPheSerTerUnk	rs773380190	frameshift	-	NC_000006.12:g.56171011T>-	NCI-TCGA
COL21A1	Q96P44	p.Ile254Val	rs768116680	missense variant	-	NC_000006.12:g.56171009T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Ile254Leu	rs768116680	missense variant	-	NC_000006.12:g.56171009T>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly256Val	rs1285342779	missense variant	-	NC_000006.12:g.56171002C>A	gnomAD
COL21A1	Q96P44	p.Gly256Glu	COSM3628880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56171002C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ser261Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56170987G>A	NCI-TCGA
COL21A1	Q96P44	p.Lys262Glu	rs751589344	missense variant	-	NC_000006.12:g.56170985T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Lys262Thr	rs1269185590	missense variant	-	NC_000006.12:g.56170984T>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Val263Phe	rs766630871	missense variant	-	NC_000006.12:g.56170982C>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp264Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56170979C>T	NCI-TCGA
COL21A1	Q96P44	p.Asp264Gly	rs1321775400	missense variant	-	NC_000006.12:g.56170978T>C	gnomAD
COL21A1	Q96P44	p.Leu265Val	rs763030420	missense variant	-	NC_000006.12:g.56170976A>C	ExAC,gnomAD
COL21A1	Q96P44	p.Glu267Lys	rs764980509	missense variant	-	NC_000006.12:g.56170970C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Glu267Gln	rs764980509	missense variant	-	NC_000006.12:g.56170970C>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Thr269Lys	rs1004347614	missense variant	-	NC_000006.12:g.56170963G>T	TOPMed
COL21A1	Q96P44	p.Thr269Ile	rs1004347614	missense variant	-	NC_000006.12:g.56170963G>A	TOPMed
COL21A1	Q96P44	p.Asn271Ser	rs185452039	missense variant	-	NC_000006.12:g.56170863T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Val272Ile	rs1276935929	missense variant	-	NC_000006.12:g.56170861C>T	gnomAD
COL21A1	Q96P44	p.Pro274Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56170855G>T	NCI-TCGA
COL21A1	Q96P44	p.Pro274Ser	rs1346012166	missense variant	-	NC_000006.12:g.56170855G>A	gnomAD
COL21A1	Q96P44	p.Glu275Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56170852C>T	NCI-TCGA
COL21A1	Q96P44	p.Glu275Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56170852C>A	NCI-TCGA
COL21A1	Q96P44	p.Glu275Gly	rs750656343	missense variant	-	NC_000006.12:g.56170851T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly276Asp	rs371363526	missense variant	-	NC_000006.12:g.56170848C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly276Val	rs371363526	missense variant	-	NC_000006.12:g.56170848C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Leu277Pro	rs2764043	missense variant	-	NC_000006.12:g.56170845A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Leu277Phe	rs553883894	missense variant	-	NC_000006.12:g.56170846G>A	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Pro278Ser	COSM3628877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56170843G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ser280Leu	rs764079345	missense variant	-	NC_000006.12:g.56170836G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Tyr281Cys	rs568286835	missense variant	-	NC_000006.12:g.56170833T>C	1000Genomes,TOPMed
COL21A1	Q96P44	p.Tyr281Phe	rs568286835	missense variant	-	NC_000006.12:g.56170833T>A	1000Genomes,TOPMed
COL21A1	Q96P44	p.Val282Ile	rs775107663	missense variant	-	NC_000006.12:g.56170831C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Val282Leu	rs775107663	missense variant	-	NC_000006.12:g.56170831C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Phe283Leu	rs759037535	missense variant	-	NC_000006.12:g.56170828A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Val284Met	rs1380376432	missense variant	-	NC_000006.12:g.56170825C>T	gnomAD
COL21A1	Q96P44	p.Ser285Tyr	rs1053225077	missense variant	-	NC_000006.12:g.56170821G>T	TOPMed
COL21A1	Q96P44	p.Thr286Ile	rs774159901	missense variant	-	NC_000006.12:g.56170818G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gln287Glu	COSM4823290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56170816G>C	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Arg288Lys	rs770639332	missense variant	-	NC_000006.12:g.56170812C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg288Ile	rs770639332	missense variant	-	NC_000006.12:g.56170812C>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Phe289Leu	rs1209879684	missense variant	-	NC_000006.12:g.56170810A>G	gnomAD
COL21A1	Q96P44	p.Lys290Asn	rs1443326996	missense variant	-	NC_000006.12:g.56170805T>G	gnomAD
COL21A1	Q96P44	p.Val291Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56170804C>T	NCI-TCGA
COL21A1	Q96P44	p.Lys292Thr	rs781677963	missense variant	-	NC_000006.12:g.56170800T>G	ExAC,gnomAD
COL21A1	Q96P44	p.Lys292Gln	rs376790550	missense variant	-	NC_000006.12:g.56170801T>G	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Lys292Asn	COSM3430767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56170799C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Lys293Thr	COSM1080500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56170797T>G	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ile294Met	rs531869048	missense variant	-	NC_000006.12:g.56170793A>C	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Trp295Leu	rs1310097574	missense variant	-	NC_000006.12:g.56170791C>A	gnomAD
COL21A1	Q96P44	p.Asp296Tyr	rs780566383	missense variant	-	NC_000006.12:g.56170789C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Asp296Val	rs925947579	missense variant	-	NC_000006.12:g.56170788T>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Asp296Asn	rs780566383	missense variant	-	NC_000006.12:g.56170789C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Leu297Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56170785A>G	NCI-TCGA
COL21A1	Q96P44	p.Leu297Ter	rs1406381551	stop gained	-	NC_000006.12:g.56170785A>C	TOPMed
COL21A1	Q96P44	p.Trp298Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56170781C>T	NCI-TCGA
COL21A1	Q96P44	p.Arg299Ile	rs758425730	missense variant	-	NC_000006.12:g.56170779C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Leu301Ter	rs1360653995	stop gained	-	NC_000006.12:g.56170773A>C	gnomAD
COL21A1	Q96P44	p.Gly305Val	rs779176469	missense variant	-	NC_000006.12:g.56170761C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gln308Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56170753G>C	NCI-TCGA
COL21A1	Q96P44	p.Ala310Ser	rs1421488355	missense variant	-	NC_000006.12:g.56170747C>A	gnomAD
COL21A1	Q96P44	p.Val311Ile	rs375201875	missense variant	-	NC_000006.12:g.56170744C>T	ESP,ExAC,gnomAD
COL21A1	Q96P44	p.Gly315Asp	rs1260032098	missense variant	-	NC_000006.12:g.56170731C>T	gnomAD
COL21A1	Q96P44	p.Val316Met	rs752599674	missense variant	-	NC_000006.12:g.56170729C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Asp317Glu	rs767431867	missense variant	-	NC_000006.12:g.56170724G>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile319Val	rs773992893	missense variant	-	NC_000006.12:g.56170720T>C	ExAC
COL21A1	Q96P44	p.Thr323Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56170708T>A	NCI-TCGA
COL21A1	Q96P44	p.Thr323Ile	rs1228816148	missense variant	-	NC_000006.12:g.56170707G>A	gnomAD
COL21A1	Q96P44	p.Thr324Ala	rs1381152441	missense variant	-	NC_000006.12:g.56170705T>C	gnomAD
COL21A1	Q96P44	p.Thr325Ala	rs777173150	missense variant	-	NC_000006.12:g.56170702T>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Thr325Asn	rs1399098361	missense variant	-	NC_000006.12:g.56170701G>T	gnomAD
COL21A1	Q96P44	p.Ser326Gly	rs1360808395	missense variant	-	NC_000006.12:g.56170699T>C	gnomAD
COL21A1	Q96P44	p.Val327Ile	rs142653960	missense variant	-	NC_000006.12:g.56170696C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile328Thr	rs1348788432	missense variant	-	NC_000006.12:g.56170692A>G	gnomAD
COL21A1	Q96P44	p.Asn329Thr	rs775869347	missense variant	-	NC_000006.12:g.56170689T>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asn329Ser	rs775869347	missense variant	-	NC_000006.12:g.56170689T>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly330Asp	rs772631267	missense variant	-	NC_000006.12:g.56170686C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Val334Phe	rs778944755	missense variant	-	NC_000006.12:g.56170675C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Thr335Ile	rs749544621	missense variant	-	NC_000006.12:g.56170671G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asn338Lys	rs187410130	missense variant	-	NC_000006.12:g.56170661G>T	1000Genomes,TOPMed,gnomAD
COL21A1	Q96P44	p.Asn338Asp	rs1188475867	missense variant	-	NC_000006.12:g.56170663T>C	gnomAD
COL21A1	Q96P44	p.Pro339Arg	rs1264927779	missense variant	-	NC_000006.12:g.56170659G>C	gnomAD
COL21A1	Q96P44	p.Gln340Glu	rs1222327922	missense variant	-	NC_000006.12:g.56170657G>C	gnomAD
COL21A1	Q96P44	p.Thr343Ser	rs1389062664	missense variant	-	NC_000006.12:g.56168297T>A	TOPMed
COL21A1	Q96P44	p.Thr343Met	rs35471617	missense variant	-	NC_000006.12:g.56168296G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Glu347Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56168285C>T	NCI-TCGA
COL21A1	Q96P44	p.Gly348Ala	rs1300273461	missense variant	-	NC_000006.12:g.56168281C>G	gnomAD
COL21A1	Q96P44	p.Trp349Cys	rs777861336	missense variant	-	NC_000006.12:g.56168277C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Arg353His	rs1040526013	missense variant	-	NC_000006.12:g.56168266C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Arg353Cys	rs1378533564	missense variant	-	NC_000006.12:g.56168267G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Leu355Phe	rs781016162	missense variant	-	NC_000006.12:g.56168259T>G	ExAC,gnomAD
COL21A1	Q96P44	p.Leu355Ser	rs1316925118	missense variant	-	NC_000006.12:g.56168260A>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Val356Ile	rs1198538757	missense variant	-	NC_000006.12:g.56168258C>T	gnomAD
COL21A1	Q96P44	p.Thr357Lys	rs755003886	missense variant	-	NC_000006.12:g.56168254G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Thr357Ala	rs1211606257	missense variant	-	NC_000006.12:g.56168255T>C	TOPMed
COL21A1	Q96P44	p.Glu358Lys	rs375705630	missense variant	-	NC_000006.12:g.56168252C>T	ESP
COL21A1	Q96P44	p.Glu358Gln	rs375705630	missense variant	-	NC_000006.12:g.56168252C>G	ESP
COL21A1	Q96P44	p.Asp360Val	rs371980405	missense variant	-	NC_000006.12:g.56168245T>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp360Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56168246C>T	NCI-TCGA
COL21A1	Q96P44	p.Asp360Gly	rs371980405	missense variant	-	NC_000006.12:g.56168245T>C	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp360Tyr	COSM1080496	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56168246C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Val361Leu	rs757991456	missense variant	-	NC_000006.12:g.56168243C>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Thr362Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56168240T>C	NCI-TCGA
COL21A1	Q96P44	p.Leu363Ser	rs749953709	missense variant	-	NC_000006.12:g.56168236A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Tyr364His	rs1413818732	missense variant	-	NC_000006.12:g.56168234A>G	TOPMed
COL21A1	Q96P44	p.Ile365Thr	rs1474368960	missense variant	-	NC_000006.12:g.56168230A>G	TOPMed
COL21A1	Q96P44	p.Asp367Asn	rs768871995	missense variant	-	NC_000006.12:g.56168225C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gln368His	rs753045593	missense variant	-	NC_000006.12:g.56168220T>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gln369Ter	rs1358781873	stop gained	-	NC_000006.12:g.56168219G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Ile370Met	COSM3697916	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56168214A>C	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu371Ter	rs1440341043	stop gained	-	NC_000006.12:g.56168213C>A	gnomAD
COL21A1	Q96P44	p.Asn372Lys	rs759846376	missense variant	-	NC_000006.12:g.56168208G>C	ExAC,gnomAD
COL21A1	Q96P44	p.Leu375Ser	rs1423098479	missense variant	-	NC_000006.12:g.56168200A>G	TOPMed,gnomAD
COL21A1	Q96P44	p.His376Tyr	rs1392410045	missense variant	-	NC_000006.12:g.56168198G>A	TOPMed
COL21A1	Q96P44	p.Pro377Leu	rs771361301	missense variant	-	NC_000006.12:g.56168194G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ile381Phe	rs763087898	missense variant	-	NC_000006.12:g.56168183T>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ile381Thr	rs773327606	missense variant	-	NC_000006.12:g.56168182A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Leu382Ser	rs1216736999	missense variant	-	NC_000006.12:g.56168179A>G	gnomAD
COL21A1	Q96P44	p.Ile383Met	rs769957203	missense variant	-	NC_000006.12:g.56168175G>C	ExAC,gnomAD
COL21A1	Q96P44	p.Ile383Phe	rs1310269163	missense variant	-	NC_000006.12:g.56168177T>A	TOPMed
COL21A1	Q96P44	p.Gly385Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56168171C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly385Glu	rs1263082472	missense variant	-	NC_000006.12:g.56168170C>T	gnomAD
COL21A1	Q96P44	p.Gln386Lys	rs769729072	missense variant	-	NC_000006.12:g.56168168G>T	gnomAD
COL21A1	Q96P44	p.Gln386Arg	rs910799971	missense variant	-	NC_000006.12:g.56168167T>C	TOPMed
COL21A1	Q96P44	p.Gln388Arg	rs1003235239	missense variant	-	NC_000006.12:g.56168161T>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Ile389Thr	rs1292260313	missense variant	-	NC_000006.12:g.56168158A>G	TOPMed
COL21A1	Q96P44	p.Ile389Val	rs781228728	missense variant	-	NC_000006.12:g.56168159T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly394Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56168143C>G	NCI-TCGA
COL21A1	Q96P44	p.Gly394Glu	rs1297796710	missense variant	-	NC_000006.12:g.56168143C>T	gnomAD
COL21A1	Q96P44	p.Gly394Ter	rs1321867467	stop gained	-	NC_000006.12:g.56168144C>A	TOPMed
COL21A1	Q96P44	p.Lys395Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56168141T>G	NCI-TCGA
COL21A1	Q96P44	p.Glu397Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56168133T>A	NCI-TCGA
COL21A1	Q96P44	p.Glu397Lys	rs768590534	missense variant	-	NC_000006.12:g.56168135C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Glu397Ter	COSM1080494	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56168135C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Thr398Ala	rs746738665	missense variant	-	NC_000006.12:g.56168132T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Thr398Ile	rs780211265	missense variant	-	NC_000006.12:g.56168131G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Val399Leu	rs573505176	missense variant	-	NC_000006.12:g.56168129C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gln400Glu	rs747896794	missense variant	-	NC_000006.12:g.56168126G>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Phe401Leu	rs1215461727	missense variant	-	NC_000006.12:g.56166983A>G	gnomAD
COL21A1	Q96P44	p.Val403Ala	rs756806090	missense variant	-	NC_000006.12:g.56166976A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gln404Ter	rs753221006	stop gained	-	NC_000006.12:g.56166974G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Arg407Gln	rs1371785735	missense variant	-	NC_000006.12:g.56166964C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Arg407Ter	rs368852095	stop gained	-	NC_000006.12:g.56166965G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Cys410Arg	rs766697124	missense variant	-	NC_000006.12:g.56166956A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Pro412Ser	rs1399386556	missense variant	-	NC_000006.12:g.56166950G>A	gnomAD
COL21A1	Q96P44	p.Glu413Asp	rs116139421	missense variant	-	NC_000006.12:g.56166945T>A	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Glu413Lys	rs1411412126	missense variant	-	NC_000006.12:g.56166947C>T	gnomAD
COL21A1	Q96P44	p.Gln414Ter	rs1373984715	stop gained	-	NC_000006.12:g.56166944G>A	TOPMed
COL21A1	Q96P44	p.Asn415Ser	rs765603104	missense variant	-	NC_000006.12:g.56166940T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Arg417Gln	rs776563371	missense variant	-	NC_000006.12:g.56166934C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg417Trp	rs532174153	missense variant	-	NC_000006.12:g.56166935G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg417Trp	rs532174153	missense variant	-	NC_000006.12:g.56166935G>A	NCI-TCGA
COL21A1	Q96P44	p.Glu418Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56166930C>A	NCI-TCGA
COL21A1	Q96P44	p.Glu418Asp	rs1456833978	missense variant	-	NC_000006.12:g.56166930C>G	gnomAD
COL21A1	Q96P44	p.Thr419Ala	rs760951134	missense variant	-	NC_000006.12:g.56166929T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Thr419Ile	rs775818530	missense variant	-	NC_000006.12:g.56166928G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Thr419Ala	rs760951134	missense variant	-	NC_000006.12:g.56166929T>C	NCI-TCGA
COL21A1	Q96P44	p.Glu422Asp	COSM1080492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56166918C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ile423Phe	rs745594024	missense variant	-	NC_000006.12:g.56166917T>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ile423Val	rs745594024	missense variant	-	NC_000006.12:g.56166917T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly425Val	rs748887167	missense variant	-	NC_000006.12:g.56166910C>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly425Glu	rs748887167	missense variant	-	NC_000006.12:g.56166910C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Phe426Leu	rs1348793304	missense variant	-	NC_000006.12:g.56166908A>G	gnomAD
COL21A1	Q96P44	p.Asn427Ser	rs756268873	missense variant	-	NC_000006.12:g.56164821T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly428Glu	COSM3628869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56164818C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu429Asp	rs752820127	missense variant	-	NC_000006.12:g.56164814C>G	ExAC,gnomAD
COL21A1	Q96P44	p.Leu431Phe	rs1205549758	missense variant	-	NC_000006.12:g.56164503G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Leu431Pro	rs1459923118	missense variant	-	NC_000006.12:g.56164502A>G	gnomAD
COL21A1	Q96P44	p.Asp436Asn	COSM3628866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56164488C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Thr440Ile	rs752875032	missense variant	-	NC_000006.12:g.56164475G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ala442Thr	rs9475580	missense variant	-	NC_000006.12:g.56164470C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro443Leu	rs200361985	missense variant	-	NC_000006.12:g.56164466G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Cys444Tyr	rs1303522378	missense variant	-	NC_000006.12:g.56164463C>T	gnomAD
COL21A1	Q96P44	p.Cys444Ter	rs952770018	stop gained	-	NC_000006.12:g.56164462A>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Ile445Val	rs892771934	missense variant	-	NC_000006.12:g.56164461T>C	TOPMed
COL21A1	Q96P44	p.Cys446Gly	rs1235791087	missense variant	-	NC_000006.12:g.56164458A>C	gnomAD
COL21A1	Q96P44	p.Pro447Arg	rs1373867354	missense variant	-	NC_000006.12:g.56164454G>C	gnomAD
COL21A1	Q96P44	p.Pro448Leu	rs529924012	missense variant	-	NC_000006.12:g.56164451G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro448Leu	rs529924012	missense variant	-	NC_000006.12:g.56164451G>A	NCI-TCGA,NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly449Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56164448C>T	NCI-TCGA
COL21A1	Q96P44	p.Gly449Arg	rs1397639910	missense variant	-	NC_000006.12:g.56164449C>T	gnomAD
COL21A1	Q96P44	p.Leu453Pro	rs750212727	missense variant	-	NC_000006.12:g.56164436A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gln454His	rs765213254	missense variant	-	NC_000006.12:g.56164432T>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly455Asp	rs761712614	missense variant	-	NC_000006.12:g.56164430C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly455Val	rs761712614	missense variant	-	NC_000006.12:g.56164430C>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro456Leu	rs527933100	missense variant	-	NC_000006.12:g.56164427G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Lys457GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56164425_56164426insG	NCI-TCGA
COL21A1	Q96P44	p.Lys457Arg	rs1380927952	missense variant	-	NC_000006.12:g.56164424T>C	TOPMed
COL21A1	Q96P44	p.Lys457Ter	rs1378461099	stop gained	-	NC_000006.12:g.56164425T>A	gnomAD
COL21A1	Q96P44	p.Gly458Asp	rs755025815	missense variant	-	NC_000006.12:g.56156948C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Asp459Val	rs1194057496	missense variant	-	NC_000006.12:g.56156945T>A	TOPMed
COL21A1	Q96P44	p.Asp459Asn	rs780203908	missense variant	-	NC_000006.12:g.56156946C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Pro460Ala	rs750264242	missense variant	-	NC_000006.12:g.56156943G>C	ExAC,gnomAD
COL21A1	Q96P44	p.Leu462Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56156936A>T	NCI-TCGA
COL21A1	Q96P44	p.Leu462Pro	rs765051659	missense variant	-	NC_000006.12:g.56156936A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Pro463Leu	rs1352058531	missense variant	-	NC_000006.12:g.56156933G>A	gnomAD
COL21A1	Q96P44	p.Gly464Arg	rs1479597022	missense variant	-	NC_000006.12:g.56156931C>T	TOPMed
COL21A1	Q96P44	p.Pro472Thr	rs760170755	missense variant	-	NC_000006.12:g.56156907G>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly473Asp	rs1324851505	missense variant	-	NC_000006.12:g.56156903C>T	gnomAD
COL21A1	Q96P44	p.Asp475Glu	rs369622487	missense variant	-	NC_000006.12:g.56156896A>C	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly476Ala	rs1291692598	missense variant	-	NC_000006.12:g.56156894C>G	gnomAD
COL21A1	Q96P44	p.Gly476Ser	rs535480851	missense variant	-	NC_000006.12:g.56156895C>T	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Gly479Val	rs763996951	missense variant	-	NC_000006.12:g.56141982C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Tyr480Cys	rs1454240686	missense variant	-	NC_000006.12:g.56141979T>C	gnomAD
COL21A1	Q96P44	p.Gln481Ter	rs756058304	stop gained	-	NC_000006.12:g.56141977G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ala484Val	rs752190950	missense variant	-	NC_000006.12:g.56141967G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Thr486Ile	rs1272634961	missense variant	-	NC_000006.12:g.56141961G>A	gnomAD
COL21A1	Q96P44	p.Thr486Ala	rs1158653387	missense variant	-	NC_000006.12:g.56141962T>C	TOPMed
COL21A1	Q96P44	p.Pro487Ser	rs1196598738	missense variant	-	NC_000006.12:g.56141959G>A	gnomAD
COL21A1	Q96P44	p.Val489Ile	rs1341653210	missense variant	-	NC_000006.12:g.56141953C>T	gnomAD
COL21A1	Q96P44	p.Pro490Ser	rs187014313	missense variant	-	NC_000006.12:g.56141950G>A	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Pro490Thr	rs187014313	missense variant	-	NC_000006.12:g.56141950G>T	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Ser492Cys	rs575546564	missense variant	-	NC_000006.12:g.56141943G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser492Tyr	rs575546564	missense variant	-	NC_000006.12:g.56141943G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser492Tyr	rs575546564	missense variant	-	NC_000006.12:g.56141943G>T	NCI-TCGA
COL21A1	Q96P44	p.Pro493Ser	COSM4467217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56141941G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly494Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56141937C>T	NCI-TCGA
COL21A1	Q96P44	p.Ile495Thr	rs35583895	missense variant	-	NC_000006.12:g.56141934A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile495Thr	rs35583895	missense variant	-	NC_000006.12:g.56141934A>G	UniProt,dbSNP
COL21A1	Q96P44	p.Ile495Thr	VAR_038557	missense variant	-	NC_000006.12:g.56141934A>G	UniProt
COL21A1	Q96P44	p.Ile495Leu	rs1371677726	missense variant	-	NC_000006.12:g.56141935T>A	gnomAD
COL21A1	Q96P44	p.Ile495Met	COSM1080490	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56141933T>C	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gln496Lys	rs777036899	missense variant	-	NC_000006.12:g.56141932G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Ala498Val	rs368373933	missense variant	-	NC_000006.12:g.56141834G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg499Ter	rs756237287	stop gained	-	NC_000006.12:g.56141832G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg499Gly	rs756237287	missense variant	-	NC_000006.12:g.56141832G>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg499Gln	rs760893406	missense variant	-	NC_000006.12:g.56141831C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro502Ser	rs775982915	missense variant	-	NC_000006.12:g.56141823G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro502Arg	rs375684938	missense variant	-	NC_000006.12:g.56141822G>C	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Tyr504Phe	rs1181848338	missense variant	-	NC_000006.12:g.56141816T>A	TOPMed
COL21A1	Q96P44	p.Tyr504Asp	rs1187494717	missense variant	-	NC_000006.12:g.56141817A>C	gnomAD
COL21A1	Q96P44	p.Tyr504Asp	rs1187494717	missense variant	-	NC_000006.12:g.56141817A>C	NCI-TCGA
COL21A1	Q96P44	p.Lys505Arg	rs201267383	missense variant	-	NC_000006.12:g.56141813T>C	NCI-TCGA,NCI-TCGA Cosmic
COL21A1	Q96P44	p.Lys505Arg	rs201267383	missense variant	-	NC_000006.12:g.56141813T>C	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly506GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56141810C>-	NCI-TCGA
COL21A1	Q96P44	p.Glu507Lys	rs774392482	missense variant	-	NC_000006.12:g.56141808C>T	ExAC,TOPMed
COL21A1	Q96P44	p.Pro508Ser	rs1259722031	missense variant	-	NC_000006.12:g.56141805G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro508Ser	rs1259722031	missense variant	-	NC_000006.12:g.56141805G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Arg510Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56141798C>T	NCI-TCGA
COL21A1	Q96P44	p.Arg510Ter	rs749557286	stop gained	-	NC_000006.12:g.56141799G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp511Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56141796C>T	NCI-TCGA
COL21A1	Q96P44	p.Asp511Glu	rs368078832	missense variant	-	NC_000006.12:g.56141794A>T	ESP,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp511Gly	rs777807946	missense variant	-	NC_000006.12:g.56141795T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly512Asp	rs1284832054	missense variant	-	NC_000006.12:g.56141792C>T	gnomAD
COL21A1	Q96P44	p.Asp513Glu	rs905441329	missense variant	-	NC_000006.12:g.56141788G>T	TOPMed
COL21A1	Q96P44	p.Asp513Val	rs373874699	missense variant	-	NC_000006.12:g.56141789T>A	ESP,TOPMed
COL21A1	Q96P44	p.Asp513Gly	COSM6107351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56141789T>C	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Asp513His	COSM1312320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56141790C>G	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Asp516Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56126146C>A	NCI-TCGA
COL21A1	Q96P44	p.Asp516Glu	rs373582305	missense variant	-	NC_000006.12:g.56126144A>T	ESP,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg517His	rs143185782	missense variant	-	NC_000006.12:g.56126142C>T	1000Genomes,gnomAD
COL21A1	Q96P44	p.Arg517Cys	rs371001704	missense variant	-	NC_000006.12:g.56126143G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly518Arg	rs1408883523	missense variant	-	NC_000006.12:g.56126140C>T	gnomAD
COL21A1	Q96P44	p.Pro520Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56126133G>A	NCI-TCGA
COL21A1	Q96P44	p.Pro523Ser	rs1437922949	missense variant	-	NC_000006.12:g.56126125G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro523Leu	rs1392863764	missense variant	-	NC_000006.12:g.56126124G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro523Arg	rs1392863764	missense variant	-	NC_000006.12:g.56126124G>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly524Glu	rs376350188	missense variant	-	NC_000006.12:g.56126121C>T	ESP,TOPMed,gnomAD
COL21A1	Q96P44	p.Leu525Phe	rs919395065	missense variant	-	NC_000006.12:g.56126119G>A	gnomAD
COL21A1	Q96P44	p.Leu525His	rs1382522827	missense variant	-	NC_000006.12:g.56126118A>T	TOPMed
COL21A1	Q96P44	p.Leu525Ile	rs919395065	missense variant	-	NC_000006.12:g.56126119G>T	gnomAD
COL21A1	Q96P44	p.Gly527Asp	rs1428065280	missense variant	-	NC_000006.12:g.56126112C>T	gnomAD
COL21A1	Q96P44	p.Gly533Cys	rs1271273845	missense variant	-	NC_000006.12:g.56125620C>A	gnomAD
COL21A1	Q96P44	p.Gly533Val	COSM6174888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56125619C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu534Ala	rs960565896	missense variant	-	NC_000006.12:g.56125616T>G	TOPMed
COL21A1	Q96P44	p.Glu534Lys	COSM3628860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56125617C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Met535Ile	rs1198907071	missense variant	-	NC_000006.12:g.56125612C>A	TOPMed
COL21A1	Q96P44	p.Gly536Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56125611C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly536Ala	rs1240347309	missense variant	-	NC_000006.12:g.56125610C>G	TOPMed
COL21A1	Q96P44	p.Gly536Ser	rs1480774774	missense variant	-	NC_000006.12:g.56125611C>T	gnomAD
COL21A1	Q96P44	p.Ala537Val	rs1033511647	missense variant	-	NC_000006.12:g.56125607G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Ala537Thr	rs1460261910	missense variant	-	NC_000006.12:g.56125608C>T	TOPMed
COL21A1	Q96P44	p.Asp540Glu	rs1346504018	missense variant	-	NC_000006.12:g.56125597G>T	gnomAD
COL21A1	Q96P44	p.Asp540Asn	rs745367875	missense variant	-	NC_000006.12:g.56125599C>T	ExAC
COL21A1	Q96P44	p.Gly542Arg	rs1280324762	missense variant	-	NC_000006.12:g.56125593C>T	gnomAD
COL21A1	Q96P44	p.Gly542Glu	rs1234613846	missense variant	-	NC_000006.12:g.56125592C>T	gnomAD
COL21A1	Q96P44	p.Ser543Leu	rs771765654	missense variant	-	NC_000006.12:g.56125589G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser543Leu	rs771765654	missense variant	-	NC_000006.12:g.56125589G>A	NCI-TCGA,NCI-TCGA Cosmic
COL21A1	Q96P44	p.Phe546Ser	COSM3874896	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56125580A>G	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Tyr547Cys	rs1418927449	missense variant	-	NC_000006.12:g.56125577T>C	TOPMed
COL21A1	Q96P44	p.Gly548Asp	COSM1080488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56125574C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Lys550Gln	rs753101395	missense variant	-	NC_000006.12:g.56125569T>G	ExAC,gnomAD
COL21A1	Q96P44	p.Lys550Met	rs1333622106	missense variant	-	NC_000006.12:g.56125568T>A	TOPMed
COL21A1	Q96P44	p.Gly551Val	rs761932615	missense variant	-	NC_000006.12:g.56124291C>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ala552Glu	rs1323680010	missense variant	-	NC_000006.12:g.56124288G>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly554Ala	rs1460699371	missense variant	-	NC_000006.12:g.56124282C>G	gnomAD
COL21A1	Q96P44	p.Gly557Glu	COSM3158359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56124273C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Asn558Thr	rs1335874239	missense variant	-	NC_000006.12:g.56124270T>G	TOPMed
COL21A1	Q96P44	p.Asn558Lys	rs1394825097	missense variant	-	NC_000006.12:g.56124269A>C	gnomAD
COL21A1	Q96P44	p.Gly560Val	rs1164620833	missense variant	-	NC_000006.12:g.56124264C>A	gnomAD
COL21A1	Q96P44	p.Gly560Ser	rs9382581	missense variant	-	NC_000006.12:g.56124265C>T	-
COL21A1	Q96P44	p.Gly560Ser	rs9382581	missense variant	-	NC_000006.12:g.56124265C>T	NCI-TCGA
COL21A1	Q96P44	p.Leu564Phe	rs1372001204	missense variant	-	NC_000006.12:g.56124253G>A	gnomAD
COL21A1	Q96P44	p.Pro565Thr	rs764409527	missense variant	-	NC_000006.12:g.56124250G>T	ExAC
COL21A1	Q96P44	p.Pro567Ser	rs760607706	missense variant	-	NC_000006.12:g.56124244G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Pro567His	rs1256589081	missense variant	-	NC_000006.12:g.56124243G>T	TOPMed
COL21A1	Q96P44	p.Ala568Ser	rs377190560	missense variant	-	NC_000006.12:g.56124241C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ala568Pro	rs377190560	missense variant	-	NC_000006.12:g.56124241C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro571Arg	rs1276418403	missense variant	-	NC_000006.12:g.56124108G>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro571Ser	rs1345557634	missense variant	-	NC_000006.12:g.56124109G>A	gnomAD
COL21A1	Q96P44	p.Pro571Leu	rs1276418403	missense variant	-	NC_000006.12:g.56124108G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly572Ter	rs1476272204	stop gained	-	NC_000006.12:g.56124106C>A	TOPMed
COL21A1	Q96P44	p.Arg573Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56124103T>A	NCI-TCGA
COL21A1	Q96P44	p.Arg573Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56124102C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly575Ter	rs1439716653	stop gained	-	NC_000006.12:g.56124097C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly575Ala	rs1334856713	missense variant	-	NC_000006.12:g.56124096C>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly575Glu	rs1334856713	missense variant	-	NC_000006.12:g.56124096C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Asp577Gly	rs1308248924	missense variant	-	NC_000006.12:g.56124090T>C	gnomAD
COL21A1	Q96P44	p.Leu579Ile	rs774696575	missense variant	-	NC_000006.12:g.56124085A>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Ser582Cys	rs1168399080	missense variant	-	NC_000006.12:g.56124076T>A	TOPMed
COL21A1	Q96P44	p.Pro583Arg	rs192244210	missense variant	-	NC_000006.12:g.56124072G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro583Thr	rs202115077	missense variant	-	NC_000006.12:g.56124073G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro583Ser	rs202115077	missense variant	-	NC_000006.12:g.56124073G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly584Ala	rs1468900956	missense variant	-	NC_000006.12:g.56124069C>G	gnomAD
COL21A1	Q96P44	p.Gly584Ser	rs1174716863	missense variant	-	NC_000006.12:g.56124070C>T	gnomAD
COL21A1	Q96P44	p.Phe585Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56124065G>T	NCI-TCGA
COL21A1	Q96P44	p.Ala589Ser	rs747783927	missense variant	-	NC_000006.12:g.56101519C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly590Arg	rs1257607541	missense variant	-	NC_000006.12:g.56101516C>T	TOPMed
COL21A1	Q96P44	p.Ser591Thr	rs75605879	missense variant	-	NC_000006.12:g.56101513A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser591Phe	rs772334488	missense variant	-	NC_000006.12:g.56101512G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ser591Pro	rs75605879	missense variant	-	NC_000006.12:g.56101513A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro592Ser	rs746174950	missense variant	-	NC_000006.12:g.56101510G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro592Thr	rs746174950	missense variant	-	NC_000006.12:g.56101510G>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly593Ser	rs766840900	missense variant	-	NC_000006.12:g.56101507C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly593Asp	rs1210321150	missense variant	-	NC_000006.12:g.56101506C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Ala594Pro	rs1477851531	missense variant	-	NC_000006.12:g.56101504C>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Ala594Thr	rs1477851531	missense variant	-	NC_000006.12:g.56101504C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro595Leu	rs757819748	missense variant	-	NC_000006.12:g.56101500G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gln597His	rs1380697382	missense variant	-	NC_000006.12:g.56101493C>G	gnomAD
COL21A1	Q96P44	p.Thr600Ser	rs1426749864	missense variant	-	NC_000006.12:g.56101486T>A	gnomAD
COL21A1	Q96P44	p.Arg601Trp	rs560128738	missense variant	-	NC_000006.12:g.56101483G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg601Gln	rs752877676	missense variant	-	NC_000006.12:g.56101482C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Arg601Gly	rs560128738	missense variant	-	NC_000006.12:g.56101483G>C	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly602Val	rs918646990	missense variant	-	NC_000006.12:g.56101479C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly602Ala	rs918646990	missense variant	-	NC_000006.12:g.56101479C>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro604His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56101473G>T	NCI-TCGA
COL21A1	Q96P44	p.Gly605Arg	COSM3628850	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56077573C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro607Ser	rs374478013	missense variant	-	NC_000006.12:g.56077567G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly608Arg	COSM4404632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56077564C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Phe609Val	rs761294480	missense variant	-	NC_000006.12:g.56077561A>C	ExAC,gnomAD
COL21A1	Q96P44	p.Pro610Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56077558G>A	NCI-TCGA
COL21A1	Q96P44	p.Gly611Arg	rs1347564670	missense variant	-	NC_000006.12:g.56077555C>T	TOPMed
COL21A1	Q96P44	p.Arg613Gln	rs760439864	missense variant	-	NC_000006.12:g.56077548C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Arg613Ter	rs371319505	stop gained	-	NC_000006.12:g.56077549G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Met616Thr	rs775239489	missense variant	-	NC_000006.12:g.56077539A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gln618His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56077532T>G	NCI-TCGA
COL21A1	Q96P44	p.Lys619Thr	rs1482588551	missense variant	-	NC_000006.12:g.56077530T>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly620Val	rs1044691183	missense variant	-	NC_000006.12:g.56075531C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly620Glu	rs1044691183	missense variant	-	NC_000006.12:g.56075531C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Ile622Ser	rs1266646075	missense variant	-	NC_000006.12:g.56075525A>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro624Ser	rs199979695	missense variant	-	NC_000006.12:g.56075520G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro625Ser	rs916253872	missense variant	-	NC_000006.12:g.56075517G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly626Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56075513C>A	NCI-TCGA
COL21A1	Q96P44	p.Gln627Lys	rs1330127876	missense variant	-	NC_000006.12:g.56075511G>T	gnomAD
COL21A1	Q96P44	p.Gln628Lys	rs780191739	missense variant	-	NC_000006.12:g.56075508G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Gln628Ter	rs780191739	stop gained	-	NC_000006.12:g.56075508G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly629Glu	rs1313458713	missense variant	-	NC_000006.12:g.56075504C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly629Arg	rs1339952111	missense variant	-	NC_000006.12:g.56075505C>T	gnomAD
COL21A1	Q96P44	p.Lys631Ter	rs1359730247	stop gained	-	NC_000006.12:g.56075499T>A	gnomAD
COL21A1	Q96P44	p.Gly632GluPheSerTerUnk	COSM243785	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56075497T>-	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ala633Asp	rs758193066	missense variant	-	NC_000006.12:g.56075492G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Leu639Ter	rs768736130	stop gained	-	NC_000006.12:g.56074281A>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Met640Ile	rs1460005464	missense variant	-	NC_000006.12:g.56074277C>T	gnomAD
COL21A1	Q96P44	p.Met640Arg	rs747023489	missense variant	-	NC_000006.12:g.56074278A>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly641Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56074275C>T	NCI-TCGA
COL21A1	Q96P44	p.Ser642Asn	rs1388921699	missense variant	-	NC_000006.12:g.56074272C>T	gnomAD
COL21A1	Q96P44	p.Asn643Ser	rs780319697	missense variant	-	NC_000006.12:g.56074269T>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asn643Asp	rs1168502996	missense variant	-	NC_000006.12:g.56074270T>C	gnomAD
COL21A1	Q96P44	p.Gly644Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56074266C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly644Asp	COSM3874893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56074266C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ser645Leu	COSM3922016	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56074263G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro646Thr	rs191626317	missense variant	-	NC_000006.12:g.56074261G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro646Ser	rs191626317	missense variant	-	NC_000006.12:g.56074261G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro646Leu	rs1197154605	missense variant	-	NC_000006.12:g.56074260G>A	gnomAD
COL21A1	Q96P44	p.Gly647Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56074258C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly647Asp	rs778800969	missense variant	-	NC_000006.12:g.56074257C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Gly650Ala	rs549633498	missense variant	-	NC_000006.12:g.56074248C>G	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Gly650Glu	COSM3922013	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56074248C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Thr651Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56074245G>A	NCI-TCGA
COL21A1	Q96P44	p.Pro652Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56074242G>T	NCI-TCGA
COL21A1	Q96P44	p.Pro652Leu	rs368711091	missense variant	-	NC_000006.12:g.56074242G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro652Ser	rs777509414	missense variant	-	NC_000006.12:g.56074243G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly653Val	rs1344160319	missense variant	-	NC_000006.12:g.56074239C>A	gnomAD
COL21A1	Q96P44	p.Ser654Phe	rs1354051786	missense variant	-	NC_000006.12:g.56074236G>A	TOPMed
COL21A1	Q96P44	p.Lys655Glu	rs1272887246	missense variant	-	NC_000006.12:g.56074234T>C	gnomAD
COL21A1	Q96P44	p.Gly656Glu	rs1414338275	missense variant	-	NC_000006.12:g.56070797C>T	gnomAD
COL21A1	Q96P44	p.Ser657Gly	rs1403377389	missense variant	-	NC_000006.12:g.56070795T>C	gnomAD
COL21A1	Q96P44	p.Gly659Asp	COSM3628844	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56070788C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu660Gln	rs1032551188	missense variant	-	NC_000006.12:g.56070786C>G	TOPMed
COL21A1	Q96P44	p.Glu660Lys	COSM3922010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56070786C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ile663Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56070776A>C	NCI-TCGA
COL21A1	Q96P44	p.Gly665Val	rs200999181	missense variant	-	NC_000006.12:g.56070770C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly665Ala	rs200999181	missense variant	-	NC_000006.12:g.56070770C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly665Trp	rs1183045320	missense variant	-	NC_000006.12:g.56070771C>A	gnomAD
COL21A1	Q96P44	p.Met666Leu	rs1186754485	missense variant	-	NC_000006.12:g.56070768T>A	gnomAD
COL21A1	Q96P44	p.Pro667Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56070764G>A	NCI-TCGA
COL21A1	Q96P44	p.Gly668Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56070761C>A	NCI-TCGA
COL21A1	Q96P44	p.Ala669Ser	rs765881497	missense variant	-	NC_000006.12:g.56070759C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ala669Val	rs199910287	missense variant	-	NC_000006.12:g.56070758G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Leu672Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56070750G>A	NCI-TCGA
COL21A1	Q96P44	p.Lys673Gln	rs761203623	missense variant	-	NC_000006.12:g.56070747T>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gly674Arg	COSM3628841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56069117C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu675Val	rs1248342083	missense variant	-	NC_000006.12:g.56069113T>A	gnomAD
COL21A1	Q96P44	p.Glu675Asp	rs746496717	missense variant	-	NC_000006.12:g.56069112T>G	ExAC,gnomAD
COL21A1	Q96P44	p.Glu675Ter	rs754521132	stop gained	-	NC_000006.12:g.56069114C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Pro676Leu	rs779813111	missense variant	-	NC_000006.12:g.56069110G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Pro676Ser	rs1319504161	missense variant	-	NC_000006.12:g.56069111G>A	gnomAD
COL21A1	Q96P44	p.Ala678Thr	rs757963308	missense variant	-	NC_000006.12:g.56069105C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Thr679Met	rs371094018	missense variant	-	NC_000006.12:g.56069101G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Thr679Ala	rs1339667596	missense variant	-	NC_000006.12:g.56069102T>C	TOPMed
COL21A1	Q96P44	p.Gly680Cys	rs1433433050	missense variant	-	NC_000006.12:g.56069099C>A	gnomAD
COL21A1	Q96P44	p.Gly680Val	rs756413455	missense variant	-	NC_000006.12:g.56069098C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly683Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56069090C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly683Glu	COSM3628838	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56069089C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu684Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56069087C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly686Ala	rs927609795	missense variant	-	NC_000006.12:g.56069080C>G	TOPMed
COL21A1	Q96P44	p.Gly686Arg	rs1433183134	missense variant	-	NC_000006.12:g.56069081C>T	gnomAD
COL21A1	Q96P44	p.Met688Val	rs1049724939	missense variant	-	NC_000006.12:g.56069075T>C	gnomAD
COL21A1	Q96P44	p.Gly689Asp	rs1348329661	missense variant	-	NC_000006.12:g.56069071C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly689Ala	rs1348329661	missense variant	-	NC_000006.12:g.56069071C>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro691His	rs759722305	missense variant	-	NC_000006.12:g.56069065G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Pro691Leu	rs759722305	missense variant	-	NC_000006.12:g.56069065G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Pro691Ser	rs768012041	missense variant	-	NC_000006.12:g.56069066G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly692Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56069063C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly692Arg	rs766667430	missense variant	-	NC_000006.12:g.56069063C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly692Glu	rs763112285	missense variant	-	NC_000006.12:g.56069062C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile693Met	rs773516495	missense variant	-	NC_000006.12:g.56069058A>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gln694His	rs916432715	missense variant	-	NC_000006.12:g.56069055T>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly695Glu	rs769722166	missense variant	-	NC_000006.12:g.56069053C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Lys696Glu	rs776776254	missense variant	-	NC_000006.12:g.56069051T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly698Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56067329C>T	NCI-TCGA
COL21A1	Q96P44	p.Asp699Asn	rs1428750512	missense variant	-	NC_000006.12:g.56067327C>T	TOPMed
COL21A1	Q96P44	p.Gly701Glu	COSM1445258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56067320C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Asn702Ser	rs528794194	missense variant	-	NC_000006.12:g.56067317T>C	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly704Asp	rs768677481	missense variant	-	NC_000006.12:g.56067311C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Lys706Asn	rs760553234	missense variant	-	NC_000006.12:g.56067304T>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Lys706Gln	COSM1080486	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56067306T>G	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly707Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56067302C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly707Cys	rs1207150995	missense variant	-	NC_000006.12:g.56067303C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Ile708Thr	rs775441771	missense variant	-	NC_000006.12:g.56067299A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gln709Ter	rs771488206	stop gained	-	NC_000006.12:g.56067297G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly710Val	rs1205855821	missense variant	-	NC_000006.12:g.56064621C>A	TOPMed
COL21A1	Q96P44	p.Gln711Ter	COSM3628831	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56064619G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Lys712ProTerGlyValSerLysArgTerProIle	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56064613_56064614insAATTGGCTACCTCTTACTCACCCCTCAAGG	NCI-TCGA
COL21A1	Q96P44	p.Lys712ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56064615T>-	NCI-TCGA
COL21A1	Q96P44	p.Gly713Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56064612C>T	NCI-TCGA
COL21A1	Q96P44	p.Gly713Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56064613C>A	NCI-TCGA
COL21A1	Q96P44	p.Glu714Gly	rs762094164	missense variant	-	NC_000006.12:g.56064609T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly716Ala	rs1394241464	missense variant	-	NC_000006.12:g.56064603C>G	gnomAD
COL21A1	Q96P44	p.Arg717Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56064600C>A	NCI-TCGA
COL21A1	Q96P44	p.Arg717Thr	rs754049686	missense variant	-	NC_000006.12:g.56064600C>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gly719Arg	rs763809803	missense variant	-	NC_000006.12:g.56064595C>T	ExAC,TOPMed
COL21A1	Q96P44	p.Gly719Glu	COSM3628828	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56064594C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro721Ser	COSM3628825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56064589G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gln723Lys	rs775356405	missense variant	-	NC_000006.12:g.56064583G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Gln724Ter	rs552452598	stop gained	-	NC_000006.12:g.56064580G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.His730Arg	rs764373276	missense variant	-	NC_000006.12:g.56061665T>C	ExAC,gnomAD
COL21A1	Q96P44	p.His730Asp	rs201892311	missense variant	-	NC_000006.12:g.56061666G>C	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly731Asp	rs1447839343	missense variant	-	NC_000006.12:g.56061662C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly734Val	COSM6174891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56061653C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly737Val	rs1278101963	missense variant	-	NC_000006.12:g.56061033C>A	gnomAD
COL21A1	Q96P44	p.Lys739Asn	rs1351410275	missense variant	-	NC_000006.12:g.56061026C>G	TOPMed
COL21A1	Q96P44	p.Gly740Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56061025C>T	NCI-TCGA
COL21A1	Q96P44	p.Glu741Lys	COSM5078304	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56061022C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly743Ala	rs1349245380	missense variant	-	NC_000006.12:g.56061015C>G	gnomAD
COL21A1	Q96P44	p.Val744Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56061013C>A	NCI-TCGA
COL21A1	Q96P44	p.Val744Asp	rs1286078327	missense variant	-	NC_000006.12:g.56061012A>T	TOPMed
COL21A1	Q96P44	p.Val744Ile	rs1238864585	missense variant	-	NC_000006.12:g.56061013C>T	TOPMed
COL21A1	Q96P44	p.Arg745Ter	rs777906725	stop gained	-	NC_000006.12:g.56061010G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly746Ser	rs752826681	missense variant	-	NC_000006.12:g.56061007C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Ala747Asp	rs9464337	missense variant	-	NC_000006.12:g.56061003G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile748Thr	rs369414780	missense variant	-	NC_000006.12:g.56061000A>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gly749Arg	rs1430215035	missense variant	-	NC_000006.12:g.56060998C>T	gnomAD
COL21A1	Q96P44	p.Ser750Pro	rs561341748	missense variant	-	NC_000006.12:g.56060995A>G	1000Genomes,TOPMed
COL21A1	Q96P44	p.Lys751Asn	rs751500082	missense variant	-	NC_000006.12:g.56060990T>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gly752Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56060989C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly752Glu	COSM3628822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060988C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Glu753Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060986C>T	NCI-TCGA
COL21A1	Q96P44	p.Glu753Val	rs76146749	missense variant	-	NC_000006.12:g.56060985T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser754Phe	rs1182460460	missense variant	-	NC_000006.12:g.56060982G>A	gnomAD
COL21A1	Q96P44	p.Ser754Pro	rs762424677	missense variant	-	NC_000006.12:g.56060983A>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly755Val	rs772755740	missense variant	-	NC_000006.12:g.56060979C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly755Arg	rs960997927	missense variant	-	NC_000006.12:g.56060980C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly755Trp	rs960997927	missense variant	-	NC_000006.12:g.56060980C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Val756Met	rs761555786	missense variant	-	NC_000006.12:g.56060977C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly758Asp	rs1264603796	missense variant	-	NC_000006.12:g.56060970C>T	gnomAD
COL21A1	Q96P44	p.Gly758Cys	rs1391654688	missense variant	-	NC_000006.12:g.56060971C>A	TOPMed
COL21A1	Q96P44	p.Met760Ile	rs772571145	missense variant	-	NC_000006.12:g.56060963C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Met760Arg	rs201839603	missense variant	-	NC_000006.12:g.56060964A>C	ExAC,gnomAD
COL21A1	Q96P44	p.Ala763GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56060960C>-	NCI-TCGA
COL21A1	Q96P44	p.Ala763Thr	rs775055829	missense variant	-	NC_000006.12:g.56060956C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ala763Val	rs1318220380	missense variant	-	NC_000006.12:g.56060955G>A	TOPMed
COL21A1	Q96P44	p.Gly764Ser	rs1410181017	missense variant	-	NC_000006.12:g.56060953C>T	gnomAD
COL21A1	Q96P44	p.Pro765Thr	COSM3697913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060950G>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly767Arg	rs749371683	missense variant	-	NC_000006.12:g.56060944C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Pro769Ser	rs769715793	missense variant	-	NC_000006.12:g.56060938G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly770Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060934C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly770Trp	rs781322450	missense variant	-	NC_000006.12:g.56060935C>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly770Glu	COSM3628818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060934C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Asp771Glu	rs754832242	missense variant	-	NC_000006.12:g.56060930A>T	ExAC,gnomAD
COL21A1	Q96P44	p.Asp771Asn	rs866248635	missense variant	-	NC_000006.12:g.56060932C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Asp771His	rs866248635	missense variant	-	NC_000006.12:g.56060932C>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro772Ser	rs375415415	missense variant	-	NC_000006.12:g.56060929G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro772Thr	rs375415415	missense variant	-	NC_000006.12:g.56060929G>T	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro772Ala	rs375415415	missense variant	-	NC_000006.12:g.56060929G>C	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gln775Ter	rs1461600298	stop gained	-	NC_000006.12:g.56060920G>A	gnomAD
COL21A1	Q96P44	p.Gly776Arg	rs1027851782	missense variant	-	NC_000006.12:g.56060917C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly776Glu	COSM3628815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060916C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro777His	rs750287951	missense variant	-	NC_000006.12:g.56060913G>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro777Ser	rs191110368	missense variant	-	NC_000006.12:g.56060914G>A	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro777Thr	rs191110368	missense variant	-	NC_000006.12:g.56060914G>T	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro777Arg	rs750287951	missense variant	-	NC_000006.12:g.56060913G>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro778Arg	rs761169667	missense variant	-	NC_000006.12:g.56060910G>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro778Leu	rs761169667	missense variant	-	NC_000006.12:g.56060910G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly779Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060907C>T	NCI-TCGA
COL21A1	Q96P44	p.Gly779Ala	rs1353540944	missense variant	-	NC_000006.12:g.56060907C>G	gnomAD
COL21A1	Q96P44	p.Asp781Glu	rs545860371	missense variant	-	NC_000006.12:g.56060900A>C	1000Genomes
COL21A1	Q96P44	p.Asp781Tyr	rs1282935185	missense variant	-	NC_000006.12:g.56060902C>A	gnomAD
COL21A1	Q96P44	p.Pro784Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060892G>A	NCI-TCGA
COL21A1	Q96P44	p.Pro784Thr	rs753612825	missense variant	-	NC_000006.12:g.56060893G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Gly785Arg	rs766784184	missense variant	-	NC_000006.12:g.56060795C>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly785Arg	COSM3628812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060795C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly785Glu	COSM3628809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060794C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Arg786Ser	rs199722485	missense variant	-	NC_000006.12:g.56060790T>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Glu787Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060789C>T	NCI-TCGA
COL21A1	Q96P44	p.Glu787Val	rs553856739	missense variant	-	NC_000006.12:g.56060788T>A	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Glu787Ter	COSM6174894	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56060789C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Phe788Leu	rs1199474163	missense variant	-	NC_000006.12:g.56060786A>G	gnomAD
COL21A1	Q96P44	p.Glu790AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56060778_56060779insAGAGGATATAAGTGAGGTGAAGAAGAAAACAGATAACA	NCI-TCGA
COL21A1	Q96P44	p.Glu790Gln	rs1490671294	missense variant	-	NC_000006.12:g.56060780C>G	gnomAD
COL21A1	Q96P44	p.Gln791Lys	rs776658592	missense variant	-	NC_000006.12:g.56060777G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Arg794Pro	rs201203132	missense variant	-	NC_000006.12:g.56060767C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg794Gln	rs201203132	missense variant	-	NC_000006.12:g.56060767C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg794Ter	rs377112827	stop gained	-	NC_000006.12:g.56060768G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gln795His	rs574540808	missense variant	-	NC_000006.12:g.56060763T>G	1000Genomes
COL21A1	Q96P44	p.Gln795Leu	rs1464465293	missense variant	-	NC_000006.12:g.56060764T>A	TOPMed
COL21A1	Q96P44	p.Gln795Lys	rs775517458	missense variant	-	NC_000006.12:g.56060765G>T	ExAC,gnomAD
COL21A1	Q96P44	p.Gln795Ter	rs775517458	stop gained	-	NC_000006.12:g.56060765G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Val796Ile	rs1216579675	missense variant	-	NC_000006.12:g.56060762C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Cys797LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56060758_56060759insA	NCI-TCGA
COL21A1	Q96P44	p.Cys797Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060758C>T	NCI-TCGA
COL21A1	Q96P44	p.Asp799Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060753C>A	NCI-TCGA
COL21A1	Q96P44	p.Asp799His	rs771903984	missense variant	-	NC_000006.12:g.56060753C>G	ExAC
COL21A1	Q96P44	p.Val800Ile	rs745637173	missense variant	-	NC_000006.12:g.56060750C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg802Ter	rs778958281	stop gained	-	NC_000006.12:g.56060744T>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ala803Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060741C>A	NCI-TCGA
COL21A1	Q96P44	p.Ala803Gly	rs764172017	missense variant	-	NC_000006.12:g.56060218G>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gln804His	rs550920390	missense variant	-	NC_000006.12:g.56060214C>G	1000Genomes,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro806Ser	rs200564236	missense variant	-	NC_000006.12:g.56060210G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro806Leu	rs1476563920	missense variant	-	NC_000006.12:g.56060209G>A	TOPMed
COL21A1	Q96P44	p.Val807Ala	rs750613366	missense variant	-	NC_000006.12:g.56060206A>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Val807Ile	rs772162888	missense variant	-	NC_000006.12:g.56060207C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Gln810Arg	rs770804500	missense variant	-	NC_000006.12:g.56060197T>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gln810Leu	rs770804500	missense variant	-	NC_000006.12:g.56060197T>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly812Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060191C>T	NCI-TCGA
COL21A1	Q96P44	p.Arg813Ile	rs749253480	missense variant	-	NC_000006.12:g.56060188C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Arg813Lys	rs749253480	missense variant	-	NC_000006.12:g.56060188C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Asn816Ser	rs1317510793	missense variant	-	NC_000006.12:g.56060179T>C	gnomAD
COL21A1	Q96P44	p.Asn816His	COSM1080478	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060180T>G	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Asp818Val	rs1243595638	missense variant	-	NC_000006.12:g.56060173T>A	gnomAD
COL21A1	Q96P44	p.Asp818Asn	rs777790579	missense variant	-	NC_000006.12:g.56060174C>T	ExAC,gnomAD
COL21A1	Q96P44	p.His819Asn	rs375165085	missense variant	-	NC_000006.12:g.56060171G>T	ESP,gnomAD
COL21A1	Q96P44	p.His819Tyr	COSM3628806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060171G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Cys820Ter	COSM6107354	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56060166G>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Leu821Arg	rs12209452	missense variant	-	NC_000006.12:g.56060164A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Leu821Pro	rs12209452	missense variant	-	NC_000006.12:g.56060164A>G	UniProt,dbSNP
COL21A1	Q96P44	p.Leu821Pro	VAR_038560	missense variant	-	NC_000006.12:g.56060164A>G	UniProt
COL21A1	Q96P44	p.Leu821Pro	rs12209452	missense variant	-	NC_000006.12:g.56060164A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ser822Tyr	rs565539780	missense variant	-	NC_000006.12:g.56060161G>T	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Ser822Phe	COSM3158293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060161G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly825Ala	rs1453847218	missense variant	-	NC_000006.12:g.56060152C>G	gnomAD
COL21A1	Q96P44	p.Pro827ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56060146_56060147insGGGAGCC	NCI-TCGA
COL21A1	Q96P44	p.Pro827Ala	rs1555131	missense variant	-	NC_000006.12:g.56060147G>C	UniProt,dbSNP
COL21A1	Q96P44	p.Pro827Ala	VAR_038561	missense variant	-	NC_000006.12:g.56060147G>C	UniProt
COL21A1	Q96P44	p.Pro827Ala	rs1555131	missense variant	-	NC_000006.12:g.56060147G>C	gnomAD
COL21A1	Q96P44	p.Pro827Leu	rs369298003	missense variant	-	NC_000006.12:g.56060146G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro830Ser	COSM3922004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060138G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro832Ser	rs1032884948	missense variant	-	NC_000006.12:g.56060132G>A	TOPMed
COL21A1	Q96P44	p.Pro835Leu	rs376027281	missense variant	-	NC_000006.12:g.56060122G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Ile836Met	rs1446728322	missense variant	-	NC_000006.12:g.56060118T>C	gnomAD
COL21A1	Q96P44	p.Pro838Leu	rs867801414	missense variant	-	NC_000006.12:g.56060113G>A	-
COL21A1	Q96P44	p.Glu839Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060109C>A	NCI-TCGA
COL21A1	Q96P44	p.Glu839Lys	rs545720049	missense variant	-	NC_000006.12:g.56060111C>T	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Gly840Asp	rs1261919531	missense variant	-	NC_000006.12:g.56060107C>T	TOPMed
COL21A1	Q96P44	p.Gly840Ser	rs1204222305	missense variant	-	NC_000006.12:g.56060108C>T	TOPMed
COL21A1	Q96P44	p.Pro841Leu	rs1486238937	missense variant	-	NC_000006.12:g.56060104G>A	gnomAD
COL21A1	Q96P44	p.Arg842Lys	rs576880927	missense variant	-	NC_000006.12:g.56060101C>T	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Pro845Thr	rs371442033	missense variant	-	NC_000006.12:g.56060093G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly846Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060090C>G	NCI-TCGA
COL21A1	Q96P44	p.Leu847Phe	rs774578418	missense variant	-	NC_000006.12:g.56060085C>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Leu847Phe	COSM6107357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56060085C>G	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly849Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060080C>T	NCI-TCGA
COL21A1	Q96P44	p.Arg850Ile	rs1294749799	missense variant	-	NC_000006.12:g.56060077C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Asp851Asn	rs770857620	missense variant	-	NC_000006.12:g.56060075C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Asp851His	rs770857620	missense variant	-	NC_000006.12:g.56060075C>G	ExAC,gnomAD
COL21A1	Q96P44	p.Asp851Gly	rs1453084916	missense variant	-	NC_000006.12:g.56060074T>C	TOPMed
COL21A1	Q96P44	p.Gly852Cys	rs540310046	missense variant	-	NC_000006.12:g.56060072C>A	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Val853Phe	rs574479791	missense variant	-	NC_000006.12:g.56060069C>A	1000Genomes,ExAC,gnomAD
COL21A1	Q96P44	p.Pro854Leu	rs769828742	missense variant	-	NC_000006.12:g.56060065G>A	ExAC,gnomAD
COL21A1	Q96P44	p.Gly855Val	rs747729983	missense variant	-	NC_000006.12:g.56060062C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Arg862Cys	rs1035954726	missense variant	-	NC_000006.12:g.56060042G>A	gnomAD
COL21A1	Q96P44	p.Arg862Leu	rs375936410	missense variant	-	NC_000006.12:g.56060041C>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg862His	rs375936410	missense variant	-	NC_000006.12:g.56060041C>T	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro863Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060038G>A	NCI-TCGA
COL21A1	Q96P44	p.Gly867Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060026C>A	NCI-TCGA
COL21A1	Q96P44	p.Lys869Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56060021T>G	NCI-TCGA
COL21A1	Q96P44	p.Gly870Asp	rs1453227110	missense variant	-	NC_000006.12:g.56059242C>T	TOPMed
COL21A1	Q96P44	p.Gly870Val	COSM4862707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56059242C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly873Arg	rs779738631	missense variant	-	NC_000006.12:g.56059234C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Arg874Lys	COSM4897070	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56059230C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly876Val	rs1334477710	missense variant	-	NC_000006.12:g.56059224C>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly876Ala	rs1334477710	missense variant	-	NC_000006.12:g.56059224C>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Glu877Lys	rs867948640	missense variant	-	NC_000006.12:g.56059222C>T	-
COL21A1	Q96P44	p.Glu877AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.56059220_56059221insG	NCI-TCGA
COL21A1	Q96P44	p.Gly879Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56059215C>T	NCI-TCGA
COL21A1	Q96P44	p.Ser880Asn	rs771682252	missense variant	-	NC_000006.12:g.56059212C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gln881Arg	rs1430106625	missense variant	-	NC_000006.12:g.56059209T>C	gnomAD
COL21A1	Q96P44	p.Gln881Ter	rs370832811	stop gained	-	NC_000006.12:g.56059210G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly882Ala	rs756445035	missense variant	-	NC_000006.12:g.56059206C>G	ExAC,gnomAD
COL21A1	Q96P44	p.Gly882Arg	rs115079907	missense variant	-	NC_000006.12:g.56059207C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly882Val	rs756445035	missense variant	-	NC_000006.12:g.56059206C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Tyr885Cys	rs543903916	missense variant	-	NC_000006.12:g.56059197T>C	1000Genomes,ExAC
COL21A1	Q96P44	p.Tyr885Ter	rs374601589	stop gained	-	NC_000006.12:g.56059196A>C	ESP,ExAC,TOPMed
COL21A1	Q96P44	p.Pro886Thr	rs1363147065	missense variant	-	NC_000006.12:g.56059195G>T	gnomAD
COL21A1	Q96P44	p.Pro886Ala	rs1363147065	missense variant	-	NC_000006.12:g.56059195G>C	gnomAD
COL21A1	Q96P44	p.Gly887Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56059192C>T	NCI-TCGA
COL21A1	Q96P44	p.Glu888Ter	COSM1080474	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56059189C>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly890Ser	rs1240981411	missense variant	-	NC_000006.12:g.56059183C>T	gnomAD
COL21A1	Q96P44	p.Gly890Cys	rs1240981411	missense variant	-	NC_000006.12:g.56059183C>A	gnomAD
COL21A1	Q96P44	p.Pro891His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56059179G>T	NCI-TCGA
COL21A1	Q96P44	p.Pro891Thr	rs992882562	missense variant	-	NC_000006.12:g.56059180G>T	TOPMed
COL21A1	Q96P44	p.Pro892Ser	rs958916097	missense variant	-	NC_000006.12:g.56059177G>A	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly893Ser	COSM4903691	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56059174C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro894His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56059170G>T	NCI-TCGA
COL21A1	Q96P44	p.Pro894Leu	rs200478915	missense variant	-	NC_000006.12:g.56059170G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro894Arg	rs200478915	missense variant	-	NC_000006.12:g.56059170G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro895Gln	rs1221553849	missense variant	-	NC_000006.12:g.56059167G>T	gnomAD
COL21A1	Q96P44	p.Gly896Arg	rs1227451022	missense variant	-	NC_000006.12:g.56059165C>G	gnomAD
COL21A1	Q96P44	p.Gly899Ser	rs1386238991	missense variant	-	NC_000006.12:g.56057836C>T	gnomAD
COL21A1	Q96P44	p.Pro900Arg	rs748535992	missense variant	-	NC_000006.12:g.56057832G>C	ExAC,gnomAD
COL21A1	Q96P44	p.Pro901Thr	rs1284288830	missense variant	-	NC_000006.12:g.56057830G>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro901Ala	rs1284288830	missense variant	-	NC_000006.12:g.56057830G>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Pro901Leu	rs868537548	missense variant	-	NC_000006.12:g.56057829G>A	gnomAD
COL21A1	Q96P44	p.Gly902Arg	rs1356423167	missense variant	-	NC_000006.12:g.56057827C>G	gnomAD
COL21A1	Q96P44	p.Gly902Ala	rs912640531	missense variant	-	NC_000006.12:g.56057826C>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Gly902MetPheSerTerUnkUnk	COSM5164503	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56057828_56057829insGGAGGGCCCTCTGGACCTAAGATGGGACATT	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Ile903Val	rs1383892580	missense variant	-	NC_000006.12:g.56057824T>C	gnomAD
COL21A1	Q96P44	p.Ser904Asn	rs766194518	missense variant	-	NC_000006.12:g.56057820C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Lys905Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56057816T>G	NCI-TCGA
COL21A1	Q96P44	p.Lys905Ter	rs1428828177	stop gained	-	NC_000006.12:g.56057818T>A	gnomAD
COL21A1	Q96P44	p.Lys905Glu	rs1428828177	missense variant	-	NC_000006.12:g.56057818T>C	gnomAD
COL21A1	Q96P44	p.Glu906Gln	rs747474691	missense variant	-	NC_000006.12:g.56057815C>G	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro909Ser	rs1319021336	missense variant	-	NC_000006.12:g.56057806G>A	gnomAD
COL21A1	Q96P44	p.Asp911His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56057800C>G	NCI-TCGA
COL21A1	Q96P44	p.Leu914Val	rs1329953487	missense variant	-	NC_000006.12:g.56057791G>C	TOPMed
COL21A1	Q96P44	p.Lys917Glu	rs1162759515	missense variant	-	NC_000006.12:g.56057782T>C	gnomAD
COL21A1	Q96P44	p.Asp918Asn	rs559516314	missense variant	-	NC_000006.12:g.56057779C>T	1000Genomes,TOPMed
COL21A1	Q96P44	p.Asp918Glu	rs758492507	missense variant	-	NC_000006.12:g.56057777A>C	ExAC,gnomAD
COL21A1	Q96P44	p.Gly919Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56057776C>T	NCI-TCGA
COL21A1	Q96P44	p.Gly919Val	rs750677253	missense variant	-	NC_000006.12:g.56057775C>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly919Glu	rs750677253	missense variant	-	NC_000006.12:g.56057775C>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp920Glu	rs925430932	missense variant	-	NC_000006.12:g.56057771G>C	TOPMed
COL21A1	Q96P44	p.Asp920Gly	rs1184429541	missense variant	-	NC_000006.12:g.56057772T>C	gnomAD
COL21A1	Q96P44	p.His921Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56057770G>T	NCI-TCGA
COL21A1	Q96P44	p.His921Asp	rs765492111	missense variant	-	NC_000006.12:g.56057770G>C	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly922Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56057766C>A	NCI-TCGA
COL21A1	Q96P44	p.Pro924Ser	rs753645403	missense variant	-	NC_000006.12:g.56057761G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly925Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56057758C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly925Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56057757C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly925Glu	COSM3628798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057757C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gly925Arg	COSM4896860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057758C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Gln929Ter	COSM1080472	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.56057746G>A	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro930Ala	rs201992128	missense variant	-	NC_000006.12:g.56057743G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Gly931Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56057740C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly931Ser	COSM3628795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057740C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro932Ser	rs759045064	missense variant	-	NC_000006.12:g.56057737G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro932Thr	rs759045064	missense variant	-	NC_000006.12:g.56057737G>T	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Pro932Leu	rs1213061248	missense variant	-	NC_000006.12:g.56057736G>A	gnomAD
COL21A1	Q96P44	p.Gly934Asp	rs770598007	missense variant	-	NC_000006.12:g.56057730C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Cys936Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.56057724C>T	NCI-TCGA
COL21A1	Q96P44	p.Asp937Gly	rs747529457	missense variant	-	NC_000006.12:g.56057721T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Asp937Asn	rs563672300	missense variant	-	NC_000006.12:g.56057722C>T	1000Genomes,TOPMed,gnomAD
COL21A1	Q96P44	p.Asp937Glu	rs1412679648	missense variant	-	NC_000006.12:g.56057720G>T	TOPMed
COL21A1	Q96P44	p.Asp937His	rs563672300	missense variant	-	NC_000006.12:g.56057722C>G	1000Genomes,TOPMed,gnomAD
COL21A1	Q96P44	p.Cys941Tyr	rs772343661	missense variant	-	NC_000006.12:g.56057709C>T	ExAC,gnomAD
COL21A1	Q96P44	p.Ile945Thr	rs1172273962	missense variant	-	NC_000006.12:g.56057697A>G	gnomAD
COL21A1	Q96P44	p.Ala946Gly	rs193200197	missense variant	-	NC_000006.12:g.56057694G>C	1000Genomes
COL21A1	Q96P44	p.Ala946Ser	rs753959414	missense variant	-	NC_000006.12:g.56057695C>A	ExAC,gnomAD
COL21A1	Q96P44	p.Ala946Thr	COSM1080470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057695C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Arg948Ser	rs1202841308	missense variant	-	NC_000006.12:g.56057687T>G	gnomAD
COL21A1	Q96P44	p.Arg948Lys	rs1248860748	missense variant	-	NC_000006.12:g.56057688C>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Asp949Val	rs1307194026	missense variant	-	NC_000006.12:g.56057685T>A	gnomAD
COL21A1	Q96P44	p.Pro950Leu	rs369126858	missense variant	-	NC_000006.12:g.56057682G>A	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Phe951Leu	rs1321533965	missense variant	-	NC_000006.12:g.56057678G>T	TOPMed,gnomAD
COL21A1	Q96P44	p.Phe951Leu	rs1321533965	missense variant	-	NC_000006.12:g.56057678G>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Lys953Arg	rs767432926	missense variant	-	NC_000006.12:g.56057673T>C	ExAC,gnomAD
COL21A1	Q96P44	p.Lys953Asn	rs1224089906	missense variant	-	NC_000006.12:g.56057672T>G	gnomAD
COL21A1	Q96P44	p.Gly954Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.56057671C>A	NCI-TCGA
COL21A1	Q96P44	p.Gly954Glu	COSM1080468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.56057670C>T	NCI-TCGA Cosmic
COL21A1	Q96P44	p.Pro955Leu	rs759100067	missense variant	-	NC_000006.12:g.56057667G>A	ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asn956Lys	rs371479157	missense variant	-	NC_000006.12:g.56057663G>C	ESP,ExAC,TOPMed,gnomAD
COL21A1	Q96P44	p.Asn956Ser	rs1441198745	missense variant	-	NC_000006.12:g.56057664T>C	TOPMed,gnomAD
COL21A1	Q96P44	p.Asn956His	rs1016699668	missense variant	-	NC_000006.12:g.56057665T>G	TOPMed,gnomAD
COL21A1	Q96P44	p.Ter958Gln	rs1005260526	stop lost	-	NC_000006.12:g.56057659A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly5Arg	rs1459255335	missense variant	-	NC_000008.11:g.37797281G>A	TOPMed
ADGRA2	Q96PE1	p.Arg6Gly	rs939199876	missense variant	-	NC_000008.11:g.37797284C>G	TOPMed
ADGRA2	Q96PE1	p.Met8Thr	rs1478717952	missense variant	-	NC_000008.11:g.37797291T>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg9Leu	rs1185636978	missense variant	-	NC_000008.11:g.37797294G>T	TOPMed
ADGRA2	Q96PE1	p.Gly10Glu	rs775830837	missense variant	-	NC_000008.11:g.37797297G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala13Thr	rs527368208	missense variant	-	NC_000008.11:g.37797305G>A	1000Genomes,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala13Pro	rs527368208	missense variant	-	NC_000008.11:g.37797305G>C	1000Genomes,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg14His	rs946346051	missense variant	-	NC_000008.11:g.37797309G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu17Met	rs1249738751	missense variant	-	NC_000008.11:g.37797317C>A	gnomAD
ADGRA2	Q96PE1	p.Leu27Pro	rs1327787471	missense variant	-	NC_000008.11:g.37797348T>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro29Ser	rs911359669	missense variant	-	NC_000008.11:g.37797353C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro29Leu	VAR_072079	Missense	-	-	UniProt
ADGRA2	Q96PE1	p.Arg32Trp	rs941608819	missense variant	-	NC_000008.11:g.37797362C>T	TOPMed
ADGRA2	Q96PE1	p.Ala34Ser	rs1176916512	missense variant	-	NC_000008.11:g.37797368G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro35Ser	rs1393261853	missense variant	-	NC_000008.11:g.37797371C>T	TOPMed
ADGRA2	Q96PE1	p.Cys37Phe	rs999219064	missense variant	-	NC_000008.11:g.37797378G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro38Ala	rs1390931936	missense variant	-	NC_000008.11:g.37797380C>G	TOPMed
ADGRA2	Q96PE1	p.Pro38Gln	rs761725244	missense variant	-	NC_000008.11:g.37797381C>A	ExAC,TOPMed
ADGRA2	Q96PE1	p.Pro38Arg	rs761725244	missense variant	-	NC_000008.11:g.37797381C>G	ExAC,TOPMed
ADGRA2	Q96PE1	p.Ser40Thr	rs1447666140	missense variant	-	NC_000008.11:g.37797386T>A	TOPMed
ADGRA2	Q96PE1	p.Ile41Val	rs73592885	missense variant	-	NC_000008.11:g.37797389A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg42Cys	rs901319182	missense variant	-	NC_000008.11:g.37797392C>T	TOPMed
ADGRA2	Q96PE1	p.Ser43Arg	rs1163209714	missense variant	-	NC_000008.11:g.37797397C>G	gnomAD
ADGRA2	Q96PE1	p.Lys45Thr	rs1452016576	missense variant	-	NC_000008.11:g.37797402A>C	TOPMed
ADGRA2	Q96PE1	p.Gly48Arg	rs1220892512	missense variant	-	NC_000008.11:g.37797410G>A	gnomAD
ADGRA2	Q96PE1	p.Glu49Lys	rs1358268612	missense variant	-	NC_000008.11:g.37797413G>A	TOPMed
ADGRA2	Q96PE1	p.Glu49Gly	rs1274841318	missense variant	-	NC_000008.11:g.37797414A>G	TOPMed
ADGRA2	Q96PE1	p.Arg50Trp	rs1396494691	missense variant	-	NC_000008.11:g.37797416C>T	gnomAD
ADGRA2	Q96PE1	p.Lys52Gln	rs1310870863	missense variant	-	NC_000008.11:g.37797422A>C	gnomAD
ADGRA2	Q96PE1	p.Lys52Thr	rs1339392078	missense variant	-	NC_000008.11:g.37797423A>C	TOPMed
ADGRA2	Q96PE1	p.Gly53Ala	rs759018572	missense variant	-	NC_000008.11:g.37797426G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser55Arg	rs1267691873	missense variant	-	NC_000008.11:g.37797433C>G	gnomAD
ADGRA2	Q96PE1	p.Val58Ile	rs1310158711	missense variant	-	NC_000008.11:g.37797440G>A	gnomAD
ADGRA2	Q96PE1	p.Gly60Arg	rs767208463	missense variant	-	NC_000008.11:g.37797446G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly60Ser	rs767208463	missense variant	-	NC_000008.11:g.37797446G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro61Arg	rs1209310819	missense variant	-	NC_000008.11:g.37797450C>G	gnomAD
ADGRA2	Q96PE1	p.Arg63Trp	rs984404171	missense variant	-	NC_000008.11:g.37797455C>T	TOPMed
ADGRA2	Q96PE1	p.Arg64Trp	rs752283010	missense variant	-	NC_000008.11:g.37797458C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg64Gly	rs752283010	missense variant	-	NC_000008.11:g.37797458C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg65Lys	rs1046135986	missense variant	-	NC_000008.11:g.37797462G>A	gnomAD
ADGRA2	Q96PE1	p.Val66Met	rs1479646294	missense variant	-	NC_000008.11:g.37797464G>A	gnomAD
ADGRA2	Q96PE1	p.Val66Gly	rs764375957	missense variant	-	NC_000008.11:g.37797465T>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val67Met	rs1238670130	missense variant	-	NC_000008.11:g.37797467G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val67Leu	rs1238670130	missense variant	-	NC_000008.11:g.37797467G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser69Cys	rs754178240	missense variant	-	NC_000008.11:g.37797473A>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly70Asp	rs1182999312	missense variant	-	NC_000008.11:g.37797477G>A	gnomAD
ADGRA2	Q96PE1	p.Gly71Ala	rs779528063	missense variant	-	NC_000008.11:g.37797480G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly71Arg	rs757868520	missense variant	-	NC_000008.11:g.37797479G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly71Trp	rs757868520	missense variant	-	NC_000008.11:g.37797479G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp72Tyr	rs1265584760	missense variant	-	NC_000008.11:g.37797482G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp72Gly	rs1372841410	missense variant	-	NC_000008.11:g.37797483A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp72Asn	rs1265584760	missense variant	-	NC_000008.11:g.37797482G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro74Arg	rs1333981674	missense variant	-	NC_000008.11:g.37797489C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro74Leu	rs1333981674	missense variant	-	NC_000008.11:g.37797489C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro76Thr	rs780390532	missense variant	-	NC_000008.11:g.37797494C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro76Leu	rs747200083	missense variant	-	NC_000008.11:g.37797495C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro76Ala	rs780390532	missense variant	-	NC_000008.11:g.37797494C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro76Arg	rs747200083	missense variant	-	NC_000008.11:g.37797495C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu78Lys	rs768865629	missense variant	-	NC_000008.11:g.37797500G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro79Leu	rs749045165	missense variant	-	NC_000008.11:g.37797504C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu82Met	rs774253377	missense variant	-	NC_000008.11:g.37797512C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asn84Asp	rs1223317949	missense variant	-	NC_000008.11:g.37797518A>G	TOPMed
ADGRA2	Q96PE1	p.Gly85Ser	rs1258646229	missense variant	-	NC_000008.11:g.37797521G>A	gnomAD
ADGRA2	Q96PE1	p.Val87Ala	rs767013969	missense variant	-	NC_000008.11:g.37797528T>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Thr88Asn	rs775003566	missense variant	-	NC_000008.11:g.37797531C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu89Pro	rs939164442	missense variant	-	NC_000008.11:g.37797534T>C	TOPMed
ADGRA2	Q96PE1	p.Ser92Asn	rs762333404	missense variant	-	NC_000008.11:g.37814904G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser92Arg	rs765700679	missense variant	-	NC_000008.11:g.37814905C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asn93Asp	rs1390396369	missense variant	-	NC_000008.11:g.37814906A>G	TOPMed
ADGRA2	Q96PE1	p.Thr97Arg	rs763577512	missense variant	-	NC_000008.11:g.37814919C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr97Met	rs763577512	missense variant	-	NC_000008.11:g.37814919C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly98Glu	rs1217624250	missense variant	-	NC_000008.11:g.37814922G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg100Leu	rs755065757	missense variant	-	NC_000008.11:g.37814928G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg100Pro	rs755065757	missense variant	-	NC_000008.11:g.37814928G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg100Cys	rs267601911	missense variant	-	NC_000008.11:g.37814927C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg100His	rs755065757	missense variant	-	NC_000008.11:g.37814928G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg100His	rs755065757	missense variant	-	NC_000008.11:g.37814928G>A	NCI-TCGA
ADGRA2	Q96PE1	p.Asn101Ser	rs752915472	missense variant	-	NC_000008.11:g.37814931A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly102Ser	rs1487221783	missense variant	-	NC_000008.11:g.37814933G>A	gnomAD
ADGRA2	Q96PE1	p.Gly106Val	rs145306239	missense variant	-	NC_000008.11:g.37814946G>T	ESP,TOPMed
ADGRA2	Q96PE1	p.Leu109Gln	rs745618253	missense variant	-	NC_000008.11:g.37814955T>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu110Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37814957C>G	NCI-TCGA
ADGRA2	Q96PE1	p.Glu111Gln	rs943801193	missense variant	-	NC_000008.11:g.37814960G>C	TOPMed
ADGRA2	Q96PE1	p.Glu111Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37814962G>C	NCI-TCGA
ADGRA2	Q96PE1	p.Lys112AsnPheSerTerUnk	COSM5080728	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37814965G>-	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Leu113Pro	rs1248969210	missense variant	-	NC_000008.11:g.37814967T>C	gnomAD
ADGRA2	Q96PE1	p.Asp114His	rs1332121502	missense variant	-	NC_000008.11:g.37828889G>C	gnomAD
ADGRA2	Q96PE1	p.Asp114Gly	rs768420135	missense variant	-	NC_000008.11:g.37828890A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp114Glu	COSM3834637	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37828891C>G	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Arg116Thr	rs1466215650	missense variant	-	NC_000008.11:g.37828896G>C	TOPMed
ADGRA2	Q96PE1	p.Asn117Lys	rs769611097	missense variant	-	NC_000008.11:g.37828900C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asn117Lys	rs769611097	missense variant	-	NC_000008.11:g.37828900C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asn118Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37828902A>G	NCI-TCGA
ADGRA2	Q96PE1	p.Thr122Ala	rs1256725891	missense variant	-	NC_000008.11:g.37828913A>G	gnomAD
ADGRA2	Q96PE1	p.Gln124His	rs941542928	missense variant	-	NC_000008.11:g.37828921G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro125Leu	rs567572116	missense variant	-	NC_000008.11:g.37828923C>T	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro125Leu	rs567572116	missense variant	-	NC_000008.11:g.37828923C>T	NCI-TCGA,NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Pro125Arg	rs567572116	missense variant	-	NC_000008.11:g.37828923C>G	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala127Thr	rs754053108	missense variant	-	NC_000008.11:g.37828928G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala127Thr	rs754053108	missense variant	-	NC_000008.11:g.37828928G>A	NCI-TCGA
ADGRA2	Q96PE1	p.Leu131Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37828941T>G	NCI-TCGA
ADGRA2	Q96PE1	p.Gly132Glu	rs370700069	missense variant	-	NC_000008.11:g.37828944G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly132Arg	rs1168187548	missense variant	-	NC_000008.11:g.37828943G>A	gnomAD
ADGRA2	Q96PE1	p.Glu133SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.37828942G>-	NCI-TCGA
ADGRA2	Q96PE1	p.Glu133Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37828947A>G	NCI-TCGA
ADGRA2	Q96PE1	p.Glu133Lys	rs751263844	missense variant	-	NC_000008.11:g.37828946G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg136Cys	rs1394320517	missense variant	-	NC_000008.11:g.37828955C>T	gnomAD
ADGRA2	Q96PE1	p.Arg136His	rs754974135	missense variant	-	NC_000008.11:g.37828956G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp138Glu	rs769059050	missense variant	-	NC_000008.11:g.37829264T>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp138Asn	rs1293298126	missense variant	-	NC_000008.11:g.37829262G>A	gnomAD
ADGRA2	Q96PE1	p.Asp138Glu	rs769059050	missense variant	-	NC_000008.11:g.37829264T>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu139Arg	rs1389006718	missense variant	-	NC_000008.11:g.37829266T>G	gnomAD
ADGRA2	Q96PE1	p.Arg143Trp	rs769862036	missense variant	-	NC_000008.11:g.37829277C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg143Gln	rs372307581	missense variant	-	NC_000008.11:g.37829278G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ile144Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37829281T>C	NCI-TCGA
ADGRA2	Q96PE1	p.Cys146Tyr	rs767556131	missense variant	-	NC_000008.11:g.37829287G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Thr148Ile	rs886803631	missense variant	-	NC_000008.11:g.37829293C>T	TOPMed
ADGRA2	Q96PE1	p.Glu150Ala	rs1210391964	missense variant	-	NC_000008.11:g.37829299A>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu150Gly	rs1210391964	missense variant	-	NC_000008.11:g.37829299A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu150Lys	rs150153046	missense variant	-	NC_000008.11:g.37829298G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr151Ile	rs1237445763	missense variant	-	NC_000008.11:g.37829302C>T	gnomAD
ADGRA2	Q96PE1	p.Gly154Asp	rs1176787615	missense variant	-	NC_000008.11:g.37829311G>A	gnomAD
ADGRA2	Q96PE1	p.Gly154Ser	rs1354144227	missense variant	-	NC_000008.11:g.37829310G>A	TOPMed
ADGRA2	Q96PE1	p.Arg157Gly	rs1335119235	missense variant	-	NC_000008.11:g.37829319A>G	TOPMed
ADGRA2	Q96PE1	p.Arg157Lys	rs763831575	missense variant	-	NC_000008.11:g.37829320G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg157GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.37829315C>-	NCI-TCGA
ADGRA2	Q96PE1	p.Arg157Thr	rs763831575	missense variant	-	NC_000008.11:g.37829320G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg160Ter	rs756876565	stop gained	-	NC_000008.11:g.37829328C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg160Gln	rs145560238	missense variant	-	NC_000008.11:g.37829329G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn162Asp	rs1486773554	missense variant	-	NC_000008.11:g.37829489A>G	gnomAD
ADGRA2	Q96PE1	p.Ser164Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37829496C>G	NCI-TCGA
ADGRA2	Q96PE1	p.Ser164Tyr	COSM1099466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37829496C>A	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Gly165Arg	rs1262885491	missense variant	-	NC_000008.11:g.37829498G>A	gnomAD
ADGRA2	Q96PE1	p.Ile167Ser	rs756557477	missense variant	-	NC_000008.11:g.37829505T>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ile167Thr	rs756557477	missense variant	-	NC_000008.11:g.37829505T>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu171Met	rs749558260	missense variant	-	NC_000008.11:g.37829516C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu171Pro	rs140419408	missense variant	-	NC_000008.11:g.37829517T>C	1000Genomes,gnomAD
ADGRA2	Q96PE1	p.Leu171Arg	rs140419408	missense variant	-	NC_000008.11:g.37829517T>G	1000Genomes,gnomAD
ADGRA2	Q96PE1	p.Gln172His	rs1342814452	missense variant	-	NC_000008.11:g.37829521A>T	TOPMed
ADGRA2	Q96PE1	p.Pro173His	rs374564456	missense variant	-	NC_000008.11:g.37829523C>A	ESP,gnomAD
ADGRA2	Q96PE1	p.Gly174Arg	rs1430612172	missense variant	-	NC_000008.11:g.37829525G>A	TOPMed
ADGRA2	Q96PE1	p.Val175Leu	rs774589867	missense variant	-	NC_000008.11:g.37829528G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val175Ile	rs774589867	missense variant	-	NC_000008.11:g.37829528G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Glu178Gly	rs1351013741	missense variant	-	NC_000008.11:g.37829538A>G	TOPMed
ADGRA2	Q96PE1	p.Leu179Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37829540C>A	NCI-TCGA
ADGRA2	Q96PE1	p.Ala181Val	rs1270710612	missense variant	-	NC_000008.11:g.37829547C>T	gnomAD
ADGRA2	Q96PE1	p.Lys183Glu	rs1166284153	missense variant	-	NC_000008.11:g.37829552A>G	TOPMed
ADGRA2	Q96PE1	p.Asp186Gly	rs1308808876	missense variant	-	NC_000008.11:g.37829853A>G	gnomAD
ADGRA2	Q96PE1	p.Leu187Phe	rs1225896263	missense variant	-	NC_000008.11:g.37829857G>T	gnomAD
ADGRA2	Q96PE1	p.Gly188Ser	rs1285369824	missense variant	-	NC_000008.11:g.37829858G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly188Cys	rs1285369824	missense variant	-	NC_000008.11:g.37829858G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu190Lys	rs1220041784	missense variant	-	NC_000008.11:g.37829864G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu190Asp	rs1255384706	missense variant	-	NC_000008.11:g.37829866G>C	gnomAD
ADGRA2	Q96PE1	p.Phe191Cys	rs372198196	missense variant	-	NC_000008.11:g.37829868T>G	ESP,TOPMed
ADGRA2	Q96PE1	p.Phe191Ile	rs1468547145	missense variant	-	NC_000008.11:g.37829867T>A	gnomAD
ADGRA2	Q96PE1	p.Asp195Gly	COSM4926773	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37829880A>G	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.His197Arg	rs1258102609	missense variant	-	NC_000008.11:g.37829886A>G	TOPMed
ADGRA2	Q96PE1	p.Arg199His	rs773004412	missense variant	-	NC_000008.11:g.37829892G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg199Gly	rs374752785	missense variant	-	NC_000008.11:g.37829891C>G	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg199Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37829892G>C	NCI-TCGA
ADGRA2	Q96PE1	p.Arg199His	rs773004412	missense variant	-	NC_000008.11:g.37829892G>A	NCI-TCGA
ADGRA2	Q96PE1	p.Arg199Cys	rs374752785	missense variant	-	NC_000008.11:g.37829891C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg199Cys	rs374752785	missense variant	-	NC_000008.11:g.37829891C>T	NCI-TCGA,NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Trp200Ter	rs762524605	stop gained	-	NC_000008.11:g.37829896G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg208Leu	rs766009635	missense variant	-	NC_000008.11:g.37829919G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg208Cys	rs998006888	missense variant	-	NC_000008.11:g.37829918C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg208His	rs766009635	missense variant	-	NC_000008.11:g.37829919G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu210Arg	rs1330752404	missense variant	-	NC_000008.11:g.37829925T>G	gnomAD
ADGRA2	Q96PE1	p.Gln211Ter	rs774046876	stop gained	-	NC_000008.11:g.37829927C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser213Leu	rs767090988	missense variant	-	NC_000008.11:g.37829934C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu214Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37829936G>A	NCI-TCGA
ADGRA2	Q96PE1	p.His215Asp	rs893301070	missense variant	-	NC_000008.11:g.37829939C>G	TOPMed
ADGRA2	Q96PE1	p.Thr216Met	rs764491127	missense variant	-	NC_000008.11:g.37829943C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu217Phe	rs1197523428	missense variant	-	NC_000008.11:g.37829945C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala219Val	rs368184891	missense variant	-	NC_000008.11:g.37829952C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala219Gly	rs368184891	missense variant	-	NC_000008.11:g.37829952C>G	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala223Asp	rs1020511159	missense variant	-	NC_000008.11:g.37829964C>A	TOPMed
ADGRA2	Q96PE1	p.Gln227Ter	rs967643548	stop gained	-	NC_000008.11:g.37829975C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala228Thr	rs1471690899	missense variant	-	NC_000008.11:g.37829978G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala228Thr	rs1471690899	missense variant	-	NC_000008.11:g.37829978G>A	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Glu234Asp	rs769727910	missense variant	-	NC_000008.11:g.37829998G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu240Lys	rs1329802522	missense variant	-	NC_000008.11:g.37830014G>A	gnomAD
ADGRA2	Q96PE1	p.Gly241Arg	rs778786668	missense variant	-	NC_000008.11:g.37830712G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly241Glu	rs1447498947	missense variant	-	NC_000008.11:g.37830713G>A	gnomAD
ADGRA2	Q96PE1	p.Glu244Lys	rs1452614012	missense variant	-	NC_000008.11:g.37830721G>A	gnomAD
ADGRA2	Q96PE1	p.Glu244Asp	rs764972507	missense variant	-	NC_000008.11:g.37830723G>T	gnomAD
ADGRA2	Q96PE1	p.His246Arg	rs1419554438	missense variant	-	NC_000008.11:g.37830728A>G	gnomAD
ADGRA2	Q96PE1	p.Thr247Lys	rs1463286370	missense variant	-	NC_000008.11:g.37830731C>A	TOPMed
ADGRA2	Q96PE1	p.Leu250Phe	rs1287473615	missense variant	-	NC_000008.11:g.37830739C>T	gnomAD
ADGRA2	Q96PE1	p.Ile251Asn	rs1352520666	missense variant	-	NC_000008.11:g.37830743T>A	TOPMed
ADGRA2	Q96PE1	p.Pro252Gln	rs771754787	missense variant	-	NC_000008.11:g.37830746C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro252Leu	rs771754787	missense variant	-	NC_000008.11:g.37830746C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro252Ser	rs868319164	missense variant	-	NC_000008.11:g.37830745C>T	-
ADGRA2	Q96PE1	p.Ser253Ala	rs1368181111	missense variant	-	NC_000008.11:g.37830748T>G	gnomAD
ADGRA2	Q96PE1	p.Arg255His	rs1237759441	missense variant	-	NC_000008.11:g.37830755G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg255Cys	rs144591273	missense variant	-	NC_000008.11:g.37830754C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val257Ala	rs1417978177	missense variant	-	NC_000008.11:g.37830761T>C	gnomAD
ADGRA2	Q96PE1	p.Gln260Ter	rs768325271	stop gained	-	NC_000008.11:g.37830769C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly261Glu	rs1209198950	missense variant	-	NC_000008.11:g.37830773G>A	gnomAD
ADGRA2	Q96PE1	p.Gly261Arg	rs1003384005	missense variant	-	NC_000008.11:g.37830772G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp262His	rs777238816	missense variant	-	NC_000008.11:g.37830775G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg263Gly	rs139041191	missense variant	-	NC_000008.11:g.37830778C>G	ESP,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg263Trp	rs139041191	missense variant	-	NC_000008.11:g.37830778C>T	ESP,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg263Gln	rs141569533	missense variant	-	NC_000008.11:g.37830779G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro265Ala	rs765639554	missense variant	-	NC_000008.11:g.37830784C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser269Pro	rs1249948791	missense variant	-	NC_000008.11:g.37830796T>C	TOPMed
ADGRA2	Q96PE1	p.Ala270Val	rs1365947422	missense variant	-	NC_000008.11:g.37830800C>T	gnomAD
ADGRA2	Q96PE1	p.Ser271Asn	rs1454591005	missense variant	-	NC_000008.11:g.37830803G>A	gnomAD
ADGRA2	Q96PE1	p.Gly274Ser	rs1163208436	missense variant	-	NC_000008.11:g.37830811G>A	gnomAD
ADGRA2	Q96PE1	p.Asp276Asn	rs199973228	missense variant	-	NC_000008.11:g.37830817G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr277Ile	rs1389289699	missense variant	-	NC_000008.11:g.37830821C>T	gnomAD
ADGRA2	Q96PE1	p.Arg278His	rs535547181	missense variant	-	NC_000008.11:g.37830824G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg278Cys	rs767612829	missense variant	-	NC_000008.11:g.37830823C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg280His	rs199751275	missense variant	-	NC_000008.11:g.37830830G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg280Cys	rs150879838	missense variant	-	NC_000008.11:g.37830829C>T	ESP,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Trp281Ter	rs778501939	stop gained	-	NC_000008.11:g.37830833G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.His283Gln	rs367554198	missense variant	-	NC_000008.11:g.37830840C>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn284Thr	rs1175727730	missense variant	-	NC_000008.11:g.37830842A>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn284Ser	rs1175727730	missense variant	-	NC_000008.11:g.37830842A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg285Ter	rs371864107	stop gained	-	NC_000008.11:g.37830844C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg285Gln	rs1420050120	missense variant	-	NC_000008.11:g.37830845G>A	gnomAD
ADGRA2	Q96PE1	p.Ala286Val	rs1187271703	missense variant	-	NC_000008.11:g.37830848C>T	gnomAD
ADGRA2	Q96PE1	p.Pro287His	rs1416410274	missense variant	-	NC_000008.11:g.37830851C>A	gnomAD
ADGRA2	Q96PE1	p.Pro287Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37830851C>T	NCI-TCGA
ADGRA2	Q96PE1	p.Gly290Val	rs1398957679	missense variant	-	NC_000008.11:g.37830860G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly290Asp	rs1398957679	missense variant	-	NC_000008.11:g.37830860G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly290Ser	rs768235152	missense variant	-	NC_000008.11:g.37830859G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp291Gly	rs748600527	missense variant	-	NC_000008.11:g.37830863A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp291Asn	rs776295279	missense variant	-	NC_000008.11:g.37830862G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Glu292Lys	rs989427803	missense variant	-	NC_000008.11:g.37830865G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gln293Arg	rs1046858116	missense variant	-	NC_000008.11:g.37830869A>G	gnomAD
ADGRA2	Q96PE1	p.Ala294Thr	rs770329796	missense variant	-	NC_000008.11:g.37830871G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala294Gly	rs201617128	missense variant	-	NC_000008.11:g.37830872C>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala294Val	rs201617128	missense variant	-	NC_000008.11:g.37830872C>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu297Phe	rs774514376	missense variant	-	NC_000008.11:g.37830880C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala299Thr	rs767523114	missense variant	-	NC_000008.11:g.37830886G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala299Ser	rs767523114	missense variant	-	NC_000008.11:g.37830886G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Glu300Lys	rs777378349	missense variant	-	NC_000008.11:g.37830889G>A	gnomAD
ADGRA2	Q96PE1	p.Glu300Asp	rs914891204	missense variant	-	NC_000008.11:g.37830891G>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser301Asn	rs756247860	missense variant	-	NC_000008.11:g.37830893G>A	ExAC,TOPMed
ADGRA2	Q96PE1	p.Ser301Thr	rs756247860	missense variant	-	NC_000008.11:g.37830893G>C	ExAC,TOPMed
ADGRA2	Q96PE1	p.Ile303Val	rs375320170	missense variant	-	NC_000008.11:g.37830898A>G	ESP,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp305Asn	rs1171888150	missense variant	-	NC_000008.11:g.37830904G>A	gnomAD
ADGRA2	Q96PE1	p.Cys306Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.37830909C>A	NCI-TCGA
ADGRA2	Q96PE1	p.Thr307Ser	rs944163982	missense variant	-	NC_000008.11:g.37830911C>G	TOPMed
ADGRA2	Q96PE1	p.Thr307Ser	rs77606955	missense variant	-	NC_000008.11:g.37830910A>T	1000Genomes,TOPMed
ADGRA2	Q96PE1	p.Ile309Val	rs750369843	missense variant	-	NC_000008.11:g.37830916A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser311Ile	rs1465206733	missense variant	-	NC_000008.11:g.37830923G>T	gnomAD
ADGRA2	Q96PE1	p.Glu312Lys	rs978463872	missense variant	-	NC_000008.11:g.37831424G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu313Met	rs1254553469	missense variant	-	NC_000008.11:g.37831427C>A	gnomAD
ADGRA2	Q96PE1	p.Thr314Lys	rs755608252	missense variant	-	NC_000008.11:g.37831431C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr314Met	rs755608252	missense variant	-	NC_000008.11:g.37831431C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ile318Val	rs772469906	missense variant	-	NC_000008.11:g.37831442A>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly319Cys	rs775651785	missense variant	-	NC_000008.11:g.37831445G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly319Ser	rs775651785	missense variant	-	NC_000008.11:g.37831445G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val320Met	rs111714720	missense variant	-	NC_000008.11:g.37831448G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val320Leu	rs111714720	missense variant	-	NC_000008.11:g.37831448G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val320Leu	rs111714720	missense variant	-	NC_000008.11:g.37831448G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Trp321Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37831452G>T	NCI-TCGA
ADGRA2	Q96PE1	p.Ser323Leu	rs1279138106	missense variant	-	NC_000008.11:g.37831458C>T	gnomAD
ADGRA2	Q96PE1	p.Glu325Asp	rs759374458	missense variant	-	NC_000008.11:g.37831465G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Glu325Lys	rs751596098	missense variant	-	NC_000008.11:g.37831463G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu327Asp	rs1346428037	missense variant	-	NC_000008.11:g.37831471G>C	TOPMed
ADGRA2	Q96PE1	p.Thr329Ala	rs1315657481	missense variant	-	NC_000008.11:g.37831475A>G	TOPMed
ADGRA2	Q96PE1	p.Val330Met	rs372154008	missense variant	-	NC_000008.11:g.37831478G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser331Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37831482C>A	NCI-TCGA
ADGRA2	Q96PE1	p.Gln334Ter	COSM3899893	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37831490C>T	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Ala337Thr	rs779364501	missense variant	-	NC_000008.11:g.37831499G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala337Val	rs373912425	missense variant	-	NC_000008.11:g.37831500C>T	ESP,ExAC,gnomAD
ADGRA2	Q96PE1	p.Lys340Glu	rs772381768	missense variant	-	NC_000008.11:g.37831508A>G	ExAC,TOPMed
ADGRA2	Q96PE1	p.Val341Leu	rs780413544	missense variant	-	NC_000008.11:g.37831511G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val341Met	rs780413544	missense variant	-	NC_000008.11:g.37831511G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val344Ala	rs776971502	missense variant	-	NC_000008.11:g.37831521T>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val344Met	rs144648554	missense variant	-	NC_000008.11:g.37831520G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val345Leu	rs770032863	missense variant	-	NC_000008.11:g.37831523G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val345Leu	rs770032863	missense variant	-	NC_000008.11:g.37831523G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Glu347Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37831529G>A	NCI-TCGA
ADGRA2	Q96PE1	p.Thr348Ile	rs147457253	missense variant	-	NC_000008.11:g.37831533C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser349Phe	rs376974362	missense variant	-	NC_000008.11:g.37831536C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala350Thr	rs775149093	missense variant	-	NC_000008.11:g.37831538G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Tyr352Cys	rs763637104	missense variant	-	NC_000008.11:g.37831545A>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Cys353Arg	rs1215633107	missense variant	-	NC_000008.11:g.37831547T>C	TOPMed
ADGRA2	Q96PE1	p.Ala355Thr	rs148701575	missense variant	-	NC_000008.11:g.37831553G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu356Lys	rs758912097	missense variant	-	NC_000008.11:g.37831556G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg357Cys	rs373198805	missense variant	-	NC_000008.11:g.37831559C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg357His	rs373315899	missense variant	-	NC_000008.11:g.37831560G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg357Leu	rs373315899	missense variant	-	NC_000008.11:g.37831560G>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val358Asp	rs1444423559	missense variant	-	NC_000008.11:g.37831563T>A	gnomAD
ADGRA2	Q96PE1	p.Ala359Val	rs902375244	missense variant	-	NC_000008.11:g.37831566C>T	TOPMed
ADGRA2	Q96PE1	p.Asn360Ser	rs1167399280	missense variant	-	NC_000008.11:g.37831569A>G	gnomAD
ADGRA2	Q96PE1	p.Arg362His	rs142198191	missense variant	-	NC_000008.11:g.37831575G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg362Leu	rs142198191	missense variant	-	NC_000008.11:g.37831575G>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg362Cys	rs375804717	missense variant	-	NC_000008.11:g.37831574C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg362Ser	rs375804717	missense variant	-	NC_000008.11:g.37831574C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly363Arg	rs1413257487	missense variant	-	NC_000008.11:g.37831577G>A	gnomAD
ADGRA2	Q96PE1	p.Asp364Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37831580G>A	NCI-TCGA
ADGRA2	Q96PE1	p.Pro368Thr	rs1387770557	missense variant	-	NC_000008.11:g.37833014C>A	gnomAD
ADGRA2	Q96PE1	p.Arg369Gln	rs762420194	missense variant	-	NC_000008.11:g.37833018G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg369Ter	rs772902689	stop gained	-	NC_000008.11:g.37833017C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr370Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833021C>T	NCI-TCGA
ADGRA2	Q96PE1	p.Leu371Pro	rs765944866	missense variant	-	NC_000008.11:g.37833024T>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly373Asp	rs751960039	missense variant	-	NC_000008.11:g.37833030G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ile374Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833034C>G	NCI-TCGA
ADGRA2	Q96PE1	p.Thr375Ser	rs1301480872	missense variant	-	NC_000008.11:g.37833035A>T	gnomAD
ADGRA2	Q96PE1	p.Thr375Lys	VAR_072561	Missense	-	-	UniProt
ADGRA2	Q96PE1	p.Ala376Gly	rs1334966831	missense variant	-	NC_000008.11:g.37833039C>G	gnomAD
ADGRA2	Q96PE1	p.Ser379Thr	rs767706651	missense variant	-	NC_000008.11:g.37833047T>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gln382Glu	rs368368784	missense variant	-	NC_000008.11:g.37833056C>G	ESP
ADGRA2	Q96PE1	p.Thr386Ile	rs749263093	missense variant	-	NC_000008.11:g.37833069C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser387Leu	rs1268235416	missense variant	-	NC_000008.11:g.37833072C>T	gnomAD
ADGRA2	Q96PE1	p.Pro389Thr	rs1340248683	missense variant	-	NC_000008.11:g.37833077C>A	TOPMed
ADGRA2	Q96PE1	p.Pro389Arg	rs1366103941	missense variant	-	NC_000008.11:g.37833078C>G	gnomAD
ADGRA2	Q96PE1	p.Gly391Ser	rs61738779	missense variant	-	NC_000008.11:g.37833083G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly392Arg	rs549024344	missense variant	-	NC_000008.11:g.37833086G>A	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly393Ser	rs781166006	missense variant	-	NC_000008.11:g.37833089G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly393ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.37833086G>-	NCI-TCGA
ADGRA2	Q96PE1	p.Gly393Asp	rs1333157452	missense variant	-	NC_000008.11:g.37833090G>A	TOPMed
ADGRA2	Q96PE1	p.Ala394Asp	rs376961808	missense variant	-	NC_000008.11:g.37833093C>A	ESP,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala394Pro	rs747916539	missense variant	-	NC_000008.11:g.37833092G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala394Ser	rs747916539	missense variant	-	NC_000008.11:g.37833092G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro395Leu	rs762613563	missense variant	-	NC_000008.11:g.37833096C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro395Thr	rs772813438	missense variant	-	NC_000008.11:g.37833095C>A	ExAC
ADGRA2	Q96PE1	p.Pro395Gln	rs762613563	missense variant	-	NC_000008.11:g.37833096C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr397HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.37833099_37833100insC	NCI-TCGA
ADGRA2	Q96PE1	p.Thr397Pro	rs200094683	missense variant	-	NC_000008.11:g.37833101A>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg398Gln	rs753302682	missense variant	-	NC_000008.11:g.37833105G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg398Ter	rs1427297721	stop gained	-	NC_000008.11:g.37833104C>T	TOPMed
ADGRA2	Q96PE1	p.Ser400Pro	rs1480415680	missense variant	-	NC_000008.11:g.37833110T>C	gnomAD
ADGRA2	Q96PE1	p.Arg401Cys	rs1253136930	missense variant	-	NC_000008.11:g.37833113C>T	gnomAD
ADGRA2	Q96PE1	p.Arg401His	rs764578995	missense variant	-	NC_000008.11:g.37833114G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg402Trp	rs200841231	missense variant	-	NC_000008.11:g.37833116C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg402Gln	rs757509633	missense variant	-	NC_000008.11:g.37833117G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp404Gly	rs1475942252	missense variant	-	NC_000008.11:g.37833123A>G	gnomAD
ADGRA2	Q96PE1	p.Asp404Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833124C>A	NCI-TCGA
ADGRA2	Q96PE1	p.Arg405Cys	rs1002343532	missense variant	-	NC_000008.11:g.37833125C>T	gnomAD
ADGRA2	Q96PE1	p.Arg405Pro	rs146462494	missense variant	-	NC_000008.11:g.37833126G>C	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg405His	rs146462494	missense variant	-	NC_000008.11:g.37833126G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala406Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833129C>T	NCI-TCGA
ADGRA2	Q96PE1	p.Ala406Thr	rs758456574	missense variant	-	NC_000008.11:g.37833128G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly407Ser	rs144626797	missense variant	-	NC_000008.11:g.37833131G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly407Ala	rs755853239	missense variant	-	NC_000008.11:g.37833132G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg408Cys	rs1357273209	missense variant	-	NC_000008.11:g.37833134C>T	gnomAD
ADGRA2	Q96PE1	p.Arg408Leu	rs200541731	missense variant	-	NC_000008.11:g.37833135G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg408His	rs200541731	missense variant	-	NC_000008.11:g.37833135G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Trp409Ter	rs1313488016	stop gained	-	NC_000008.11:g.37833138G>A	gnomAD
ADGRA2	Q96PE1	p.Trp409Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833138G>T	NCI-TCGA
ADGRA2	Q96PE1	p.Trp409Cys	rs1306946674	missense variant	-	NC_000008.11:g.37833139G>T	gnomAD
ADGRA2	Q96PE1	p.Glu410Asp	rs1225543333	missense variant	-	NC_000008.11:g.37833142G>T	gnomAD
ADGRA2	Q96PE1	p.Gly412Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833146G>A	NCI-TCGA
ADGRA2	Q96PE1	p.Asp413Tyr	rs748824937	missense variant	-	NC_000008.11:g.37833149G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp413Asn	rs748824937	missense variant	-	NC_000008.11:g.37833149G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.His416Gln	rs770612185	missense variant	-	NC_000008.11:g.37833160C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu418Arg	rs773928182	missense variant	-	NC_000008.11:g.37833165T>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu418Pro	rs773928182	missense variant	-	NC_000008.11:g.37833165T>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp422Asn	rs138505796	missense variant	-	NC_000008.11:g.37833176G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp422Tyr	rs138505796	missense variant	-	NC_000008.11:g.37833176G>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val426Leu	rs1433929133	missense variant	-	NC_000008.11:g.37833188G>T	gnomAD
ADGRA2	Q96PE1	p.Tyr428Cys	rs1377239670	missense variant	-	NC_000008.11:g.37833195A>G	gnomAD
ADGRA2	Q96PE1	p.Tyr428His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833194T>C	NCI-TCGA
ADGRA2	Q96PE1	p.Phe430Leu	rs921325597	missense variant	-	NC_000008.11:g.37833200T>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val431Met	rs117702342	missense variant	-	NC_000008.11:g.37833203G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val431Leu	rs117702342	missense variant	-	NC_000008.11:g.37833203G>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Met433Arg	rs763993358	missense variant	-	NC_000008.11:g.37833689T>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Met433Lys	rs763993358	missense variant	-	NC_000008.11:g.37833689T>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro434Ser	rs149007198	missense variant	-	NC_000008.11:g.37833691C>T	ESP,ExAC,gnomAD
ADGRA2	Q96PE1	p.Asn436Ser	rs1159766421	missense variant	-	NC_000008.11:g.37833698A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser438Thr	rs143801865	missense variant	-	NC_000008.11:g.37833703T>A	ESP,TOPMed
ADGRA2	Q96PE1	p.Asn439Lys	rs1460933135	missense variant	-	NC_000008.11:g.37833708T>A	gnomAD
ADGRA2	Q96PE1	p.Asn439Ter	RCV000577868	frameshift	Ependymoma	NC_000008.11:g.37833707_37833725del	ClinVar
ADGRA2	Q96PE1	p.Asn439Ser	rs372692075	missense variant	-	NC_000008.11:g.37833707A>G	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala440Gly	rs750027952	missense variant	-	NC_000008.11:g.37833710C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala440Val	rs750027952	missense variant	-	NC_000008.11:g.37833710C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Thr442Asn	rs1437687784	missense variant	-	NC_000008.11:g.37833716C>A	gnomAD
ADGRA2	Q96PE1	p.Leu443Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833718C>A	NCI-TCGA
ADGRA2	Q96PE1	p.Ala444Gly	rs1450787657	missense variant	-	NC_000008.11:g.37833722C>G	TOPMed
ADGRA2	Q96PE1	p.His445Gln	rs1371577295	missense variant	-	NC_000008.11:g.37833726C>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.His445Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833724C>A	NCI-TCGA
ADGRA2	Q96PE1	p.His445Gln	rs1371577295	missense variant	-	NC_000008.11:g.37833726C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg448His	rs148143932	missense variant	-	NC_000008.11:g.37833734G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg448Pro	rs148143932	missense variant	-	NC_000008.11:g.37833734G>C	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg448Cys	rs199845696	missense variant	-	NC_000008.11:g.37833733C>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val449Met	rs781696424	missense variant	-	NC_000008.11:g.37833736G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Tyr450His	rs748626720	missense variant	-	NC_000008.11:g.37833739T>C	ExAC
ADGRA2	Q96PE1	p.Tyr450Cys	rs770139947	missense variant	-	NC_000008.11:g.37833740A>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Tyr450Phe	rs770139947	missense variant	-	NC_000008.11:g.37833740A>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr451Ser	rs1181360122	missense variant	-	NC_000008.11:g.37833742A>T	TOPMed
ADGRA2	Q96PE1	p.Ala452Thr	rs773451688	missense variant	-	NC_000008.11:g.37833745G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala452Ser	rs773451688	missense variant	-	NC_000008.11:g.37833745G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu453Lys	rs537952463	missense variant	-	NC_000008.11:g.37833748G>A	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala455Thr	rs759578306	missense variant	-	NC_000008.11:g.37833754G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser456Asn	rs767522506	missense variant	-	NC_000008.11:g.37833758G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser456Cys	rs1484825798	missense variant	-	NC_000008.11:g.37833757A>T	TOPMed
ADGRA2	Q96PE1	p.Met460Thr	rs1259206949	missense variant	-	NC_000008.11:g.37833770T>C	gnomAD
ADGRA2	Q96PE1	p.Val464Ala	rs761662538	missense variant	-	NC_000008.11:g.37833782T>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Tyr465Ser	rs201094555	missense variant	-	NC_000008.11:g.37833785A>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Tyr465Cys	rs201094555	missense variant	-	NC_000008.11:g.37833785A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala467Thr	rs1328378635	missense variant	-	NC_000008.11:g.37833790G>A	gnomAD
ADGRA2	Q96PE1	p.Ala467Val	rs1194148068	missense variant	-	NC_000008.11:g.37833791C>T	gnomAD
ADGRA2	Q96PE1	p.Gln468Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.37833793C>T	NCI-TCGA
ADGRA2	Q96PE1	p.Gln468His	rs1411987220	missense variant	-	NC_000008.11:g.37833795G>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Met469Ile	rs750175526	missense variant	-	NC_000008.11:g.37833798G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ile470Thr	rs1382313779	missense variant	-	NC_000008.11:g.37833800T>C	TOPMed
ADGRA2	Q96PE1	p.Phe473Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833809T>G	NCI-TCGA
ADGRA2	Q96PE1	p.Phe473Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833810T>G	NCI-TCGA
ADGRA2	Q96PE1	p.Leu474Trp	rs141849061	missense variant	-	NC_000008.11:g.37833812T>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu474Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833813G>C	NCI-TCGA
ADGRA2	Q96PE1	p.Gly475Ser	rs754490022	missense variant	-	NC_000008.11:g.37833814G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val477Ile	rs1383383122	missense variant	-	NC_000008.11:g.37833820G>A	TOPMed
ADGRA2	Q96PE1	p.Val477Ala	rs1288763091	missense variant	-	NC_000008.11:g.37833821T>C	TOPMed
ADGRA2	Q96PE1	p.Asp478His	rs770196512	missense variant	-	NC_000008.11:g.37833823G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp478Tyr	rs770196512	missense variant	-	NC_000008.11:g.37833823G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp478Asn	rs770196512	missense variant	-	NC_000008.11:g.37833823G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp478Ala	rs749630412	missense variant	-	NC_000008.11:g.37833824A>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ile480Met	rs973665501	missense variant	-	NC_000008.11:g.37833831C>G	TOPMed
ADGRA2	Q96PE1	p.Glu482Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37833835G>C	NCI-TCGA
ADGRA2	Q96PE1	p.Leu483Gln	rs746300329	missense variant	-	NC_000008.11:g.37833968T>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val484Ile	rs772173368	missense variant	-	NC_000008.11:g.37833970G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu485Val	rs1302160671	missense variant	-	NC_000008.11:g.37833974A>T	gnomAD
ADGRA2	Q96PE1	p.Val486Leu	rs1368517155	missense variant	-	NC_000008.11:g.37833976G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val486Met	rs1368517155	missense variant	-	NC_000008.11:g.37833976G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Met487Thr	rs1235134721	missense variant	-	NC_000008.11:g.37833980T>C	gnomAD
ADGRA2	Q96PE1	p.Met490Val	rs1349845190	missense variant	-	NC_000008.11:g.37833988A>G	gnomAD
ADGRA2	Q96PE1	p.Met490Thr	rs959082670	missense variant	-	NC_000008.11:g.37833989T>C	gnomAD
ADGRA2	Q96PE1	p.Leu494Arg	rs1466274224	missense variant	-	NC_000008.11:g.37834001T>G	gnomAD
ADGRA2	Q96PE1	p.Val497Leu	rs372410228	missense variant	-	NC_000008.11:g.37834009G>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val497Leu	rs372410228	missense variant	-	NC_000008.11:g.37834009G>C	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp498Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37834014C>A	NCI-TCGA
ADGRA2	Q96PE1	p.Glu499Lys	rs766211508	missense variant	-	NC_000008.11:g.37834015G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu501Arg	rs1157523983	missense variant	-	NC_000008.11:g.37834022T>G	gnomAD
ADGRA2	Q96PE1	p.Ala505Val	rs759430377	missense variant	-	NC_000008.11:g.37834034C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg507Ser	rs376398915	missense variant	-	NC_000008.11:g.37834039C>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg507Cys	rs376398915	missense variant	-	NC_000008.11:g.37834039C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg507His	rs369743546	missense variant	-	NC_000008.11:g.37834040G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu508Lys	rs372027558	missense variant	-	NC_000008.11:g.37834042G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg514Cys	rs1334912395	missense variant	-	NC_000008.11:g.37834060C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg514His	rs201472750	missense variant	-	NC_000008.11:g.37834061G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ile515Leu	rs139193794	missense variant	-	NC_000008.11:g.37834063A>C	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val516Met	rs758837731	missense variant	-	NC_000008.11:g.37834066G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu520Lys	rs1217024867	missense variant	-	NC_000008.11:g.37834078G>A	gnomAD
ADGRA2	Q96PE1	p.Arg521His	rs376864601	missense variant	-	NC_000008.11:g.37834082G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg521Cys	rs201586378	missense variant	-	NC_000008.11:g.37834081C>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ile522Thr	rs143101001	missense variant	-	NC_000008.11:g.37834085T>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly523Val	rs748306655	missense variant	-	NC_000008.11:g.37834088G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly523Ala	rs748306655	missense variant	-	NC_000008.11:g.37834088G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala525Gly	rs774475444	missense variant	-	NC_000008.11:g.37834094C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala525Thr	rs1472664602	missense variant	-	NC_000008.11:g.37834093G>A	gnomAD
ADGRA2	Q96PE1	p.Ala525ProPheSerTerUnkUnk	COSM1456830	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37834087G>-	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Ala526Thr	rs533313019	missense variant	-	NC_000008.11:g.37834096G>A	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala526Val	rs1163432368	missense variant	-	NC_000008.11:g.37834097C>T	gnomAD
ADGRA2	Q96PE1	p.Ala526Ser	rs533313019	missense variant	-	NC_000008.11:g.37834096G>T	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.His530Tyr	rs1309849298	missense variant	-	NC_000008.11:g.37834108C>T	gnomAD
ADGRA2	Q96PE1	p.Val536Gly	rs763526015	missense variant	-	NC_000008.11:g.37834127T>G	ExAC,TOPMed
ADGRA2	Q96PE1	p.Val536Ala	rs763526015	missense variant	-	NC_000008.11:g.37834127T>C	ExAC,TOPMed
ADGRA2	Q96PE1	p.Ala538Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37835178C>G	NCI-TCGA
ADGRA2	Q96PE1	p.Ala538Ser	rs764749791	missense variant	-	NC_000008.11:g.37835177G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala538Val	rs147459946	missense variant	-	NC_000008.11:g.37835178C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val541Met	rs113270504	missense variant	-	NC_000008.11:g.37835186G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val541Leu	rs113270504	missense variant	-	NC_000008.11:g.37835186G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala542Val	rs1280850272	missense variant	-	NC_000008.11:g.37835190C>T	TOPMed
ADGRA2	Q96PE1	p.Glu544Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37835195G>C	NCI-TCGA
ADGRA2	Q96PE1	p.Tyr546Cys	rs144642857	missense variant	-	NC_000008.11:g.37835202A>G	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Lys549Asn	rs1300027515	missense variant	-	NC_000008.11:g.37835212G>C	gnomAD
ADGRA2	Q96PE1	p.Pro550Arg	rs1219003612	missense variant	-	NC_000008.11:g.37835214C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro550Leu	rs1219003612	missense variant	-	NC_000008.11:g.37835214C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro550Ser	rs200624144	missense variant	-	NC_000008.11:g.37835213C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser552Gly	rs201174940	missense variant	-	NC_000008.11:g.37835219A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser552Arg	rs746790129	missense variant	-	NC_000008.11:g.37835221C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser552Asn	rs779907476	missense variant	-	NC_000008.11:g.37835220G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val554Met	rs776216887	missense variant	-	NC_000008.11:g.37835225G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr557Asn	rs761472755	missense variant	-	NC_000008.11:g.37835235C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala560Val	rs769230814	missense variant	-	NC_000008.11:g.37835244C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg563Lys	COSM6113465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835253G>A	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Arg564Lys	rs367822457	missense variant	-	NC_000008.11:g.37835256G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly566Glu	rs541430208	missense variant	-	NC_000008.11:g.37835262G>A	gnomAD
ADGRA2	Q96PE1	p.Val568Met	rs759935424	missense variant	-	NC_000008.11:g.37835267G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val568Leu	rs759935424	missense variant	-	NC_000008.11:g.37835267G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro569Leu	rs532029404	missense variant	-	NC_000008.11:g.37835271C>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly570Ser	rs1352471050	missense variant	-	NC_000008.11:g.37835273G>A	TOPMed
ADGRA2	Q96PE1	p.Thr571Ala	rs1436268965	missense variant	-	NC_000008.11:g.37835276A>G	gnomAD
ADGRA2	Q96PE1	p.Arg572Leu	rs200522621	missense variant	-	NC_000008.11:g.37835280G>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg572Trp	rs756407996	missense variant	-	NC_000008.11:g.37835279C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg572Gly	rs756407996	missense variant	-	NC_000008.11:g.37835279C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg572Gln	rs200522621	missense variant	-	NC_000008.11:g.37835280G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly574Arg	rs1288198870	missense variant	-	NC_000008.11:g.37835285G>A	gnomAD
ADGRA2	Q96PE1	p.Pro580Ser	rs746972164	missense variant	-	NC_000008.11:g.37835303C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro581Thr	rs754709982	missense variant	-	NC_000008.11:g.37835306C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro581Gln	rs148475803	missense variant	-	NC_000008.11:g.37835307C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro581Leu	rs148475803	missense variant	-	NC_000008.11:g.37835307C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro581Ser	rs754709982	missense variant	-	NC_000008.11:g.37835306C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro581Arg	rs148475803	missense variant	-	NC_000008.11:g.37835307C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro581HisPheSerTerUnkUnkUnk	COSM2959886	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37835302C>-	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Pro582Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37835310C>G	NCI-TCGA
ADGRA2	Q96PE1	p.Glu583Lys	rs776152455	missense variant	-	NC_000008.11:g.37835312G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu583Gly	rs1488653725	missense variant	-	NC_000008.11:g.37835313A>G	gnomAD
ADGRA2	Q96PE1	p.Glu583Asp	rs772791568	missense variant	-	NC_000008.11:g.37835314G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Glu585Lys	rs532653294	missense variant	-	NC_000008.11:g.37835318G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu585Gln	rs532653294	missense variant	-	NC_000008.11:g.37835318G>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro586Ser	rs760129498	missense variant	-	NC_000008.11:g.37835321C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro586Leu	rs1452069387	missense variant	-	NC_000008.11:g.37835322C>T	gnomAD
ADGRA2	Q96PE1	p.Pro587Ala	rs1334816285	missense variant	-	NC_000008.11:g.37835324C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp589Asn	rs1244362714	missense variant	-	NC_000008.11:g.37835330G>A	TOPMed
ADGRA2	Q96PE1	p.Gln591Ter	rs1192172828	stop gained	-	NC_000008.11:g.37835336C>T	TOPMed
ADGRA2	Q96PE1	p.Leu592Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37835339C>T	NCI-TCGA
ADGRA2	Q96PE1	p.Arg593Cys	rs1405023262	missense variant	-	NC_000008.11:g.37835342C>T	gnomAD
ADGRA2	Q96PE1	p.Arg593His	rs144121516	missense variant	-	NC_000008.11:g.37835343G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg595His	rs780162380	missense variant	-	NC_000008.11:g.37835349G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg595Cys	rs1351988356	missense variant	-	NC_000008.11:g.37835348C>T	gnomAD
ADGRA2	Q96PE1	p.Cys596Tyr	rs1349147158	missense variant	-	NC_000008.11:g.37835352G>A	gnomAD
ADGRA2	Q96PE1	p.Thr598Ile	COSM3648763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835358C>T	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Gly599Arg	rs754039771	missense variant	-	NC_000008.11:g.37835360G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly599Glu	rs757311859	missense variant	-	NC_000008.11:g.37835361G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg600Lys	rs146483342	missense variant	-	NC_000008.11:g.37835364G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg600Gly	rs765246403	missense variant	-	NC_000008.11:g.37835363A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro601Leu	rs754908217	missense variant	-	NC_000008.11:g.37835367C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asn602Ser	rs140910422	missense variant	-	NC_000008.11:g.37835370A>G	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser604Cys	rs1341260917	missense variant	-	NC_000008.11:g.37835376C>G	TOPMed
ADGRA2	Q96PE1	p.Ser606Pro	rs1233548466	missense variant	-	NC_000008.11:g.37835381T>C	gnomAD
ADGRA2	Q96PE1	p.Ser606Trp	rs751839090	missense variant	-	NC_000008.11:g.37835382C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser606Leu	rs751839090	missense variant	-	NC_000008.11:g.37835382C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser607Phe	rs1201641250	missense variant	-	NC_000008.11:g.37835385C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Phe608Leu	COSM3996041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835389C>G	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Asn612Lys	rs776858254	missense variant	-	NC_000008.11:g.37835556C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val614Met	rs757708388	missense variant	-	NC_000008.11:g.37835560G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala615Val	rs1466577787	missense variant	-	NC_000008.11:g.37835564C>T	gnomAD
ADGRA2	Q96PE1	p.Ala617Thr	rs1377597127	missense variant	-	NC_000008.11:g.37835569G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ile619Val	rs377757244	missense variant	-	NC_000008.11:g.37835575A>G	ESP
ADGRA2	Q96PE1	p.Pro623Arg	rs370919357	missense variant	-	NC_000008.11:g.37835588C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro623Leu	rs370919357	missense variant	-	NC_000008.11:g.37835588C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser624Arg	rs1318198369	missense variant	-	NC_000008.11:g.37835592T>A	gnomAD
ADGRA2	Q96PE1	p.Leu625Ile	rs752568389	missense variant	-	NC_000008.11:g.37835593C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Phe626Leu	rs1371415917	missense variant	-	NC_000008.11:g.37835598C>A	gnomAD
ADGRA2	Q96PE1	p.Ser627Leu	rs760530594	missense variant	-	NC_000008.11:g.37835600C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu629Phe	rs1322685559	missense variant	-	NC_000008.11:g.37835605C>T	gnomAD
ADGRA2	Q96PE1	p.Pro630Leu	rs375559793	missense variant	-	NC_000008.11:g.37835609C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala632Val	rs757123112	missense variant	-	NC_000008.11:g.37835615C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala634Thr	rs1227849649	missense variant	-	NC_000008.11:g.37835620G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro635Ala	rs780827422	missense variant	-	NC_000008.11:g.37835623C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro635Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37835623C>A	NCI-TCGA
ADGRA2	Q96PE1	p.Pro635Ser	rs780827422	missense variant	-	NC_000008.11:g.37835623C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro635Arg	rs996655314	missense variant	-	NC_000008.11:g.37835624C>G	TOPMed
ADGRA2	Q96PE1	p.Pro636Ser	rs750123578	missense variant	-	NC_000008.11:g.37835626C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro636Leu	rs757925880	missense variant	-	NC_000008.11:g.37835627C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val637Ala	rs769033601	missense variant	-	NC_000008.11:g.37835630T>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val637Leu	rs746597892	missense variant	-	NC_000008.11:g.37835629G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp640Tyr	rs781749311	missense variant	-	NC_000008.11:g.37835638G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu646Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37835656C>T	NCI-TCGA
ADGRA2	Q96PE1	p.Val647Phe	rs151148392	missense variant	-	NC_000008.11:g.37835659G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val647Ile	rs151148392	missense variant	-	NC_000008.11:g.37835659G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg649Gln	rs542887952	missense variant	-	NC_000008.11:g.37835666G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg649Ter	rs898277851	stop gained	-	NC_000008.11:g.37835665C>T	gnomAD
ADGRA2	Q96PE1	p.Gly651Cys	rs1349776647	missense variant	-	NC_000008.11:g.37835671G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg652Cys	rs763915452	missense variant	-	NC_000008.11:g.37835674C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg652His	rs776668118	missense variant	-	NC_000008.11:g.37835675G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg652Leu	rs776668118	missense variant	-	NC_000008.11:g.37835675G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu653Phe	rs1288899930	missense variant	-	NC_000008.11:g.37835677C>T	TOPMed
ADGRA2	Q96PE1	p.Phe654Ser	rs1240050178	missense variant	-	NC_000008.11:g.37835681T>C	gnomAD
ADGRA2	Q96PE1	p.His655Pro	rs765139370	missense variant	-	NC_000008.11:g.37835684A>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.His655Arg	rs765139370	missense variant	-	NC_000008.11:g.37835684A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.His655Gln	COSM4936951	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835685C>G	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.His657Arg	rs1354754552	missense variant	-	NC_000008.11:g.37835690A>G	gnomAD
ADGRA2	Q96PE1	p.Asn659Thr	COSM1099480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835696A>C	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Thr660Ser	rs766196801	missense variant	-	NC_000008.11:g.37835698A>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Thr660Asn	rs1480282596	missense variant	-	NC_000008.11:g.37835699C>A	gnomAD
ADGRA2	Q96PE1	p.Arg662Cys	rs368535918	missense variant	-	NC_000008.11:g.37835704C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg662His	rs576854487	missense variant	-	NC_000008.11:g.37835705G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro663Thr	rs1369911157	missense variant	-	NC_000008.11:g.37835707C>A	TOPMed
ADGRA2	Q96PE1	p.Gly669Ala	rs756409530	missense variant	-	NC_000008.11:g.37835726G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg671Lys	rs778110980	missense variant	-	NC_000008.11:g.37835732G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg671Thr	rs778110980	missense variant	-	NC_000008.11:g.37835732G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg672Cys	rs1188260710	missense variant	-	NC_000008.11:g.37835734C>T	TOPMed
ADGRA2	Q96PE1	p.Arg672His	rs200127115	missense variant	-	NC_000008.11:g.37835735G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg672Gly	COSM486415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835734C>G	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Gly673Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37835737G>A	NCI-TCGA
ADGRA2	Q96PE1	p.Val674Met	rs772222895	missense variant	-	NC_000008.11:g.37835740G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala675Thr	rs565289543	missense variant	-	NC_000008.11:g.37835743G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala675Ser	rs565289543	missense variant	-	NC_000008.11:g.37835743G>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr676Asn	rs747192822	missense variant	-	NC_000008.11:g.37835747C>A	TOPMed
ADGRA2	Q96PE1	p.Thr676Ile	rs747192822	missense variant	-	NC_000008.11:g.37835747C>T	TOPMed
ADGRA2	Q96PE1	p.Pro677Ser	COSM1314019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37835749C>T	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Val678Ile	rs765333292	missense variant	-	NC_000008.11:g.37835752G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val678Leu	rs765333292	missense variant	-	NC_000008.11:g.37835752G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val678SerPheSerTerUnkUnk	COSM1456833	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37835747C>-	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Ala681Val	rs751259318	missense variant	-	NC_000008.11:g.37835762C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala681Thr	rs77369926	missense variant	-	NC_000008.11:g.37835761G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala681Ser	rs77369926	missense variant	-	NC_000008.11:g.37835761G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr683Ile	rs1341826852	missense variant	-	NC_000008.11:g.37835768C>T	gnomAD
ADGRA2	Q96PE1	p.Gly685Ser	rs1376002955	missense variant	-	NC_000008.11:g.37837733G>A	gnomAD
ADGRA2	Q96PE1	p.Cys686Arg	rs1386217136	missense variant	-	NC_000008.11:g.37837736T>C	TOPMed
ADGRA2	Q96PE1	p.Gly687Asp	rs199799909	missense variant	-	NC_000008.11:g.37837740G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val688Met	rs556940000	missense variant	-	NC_000008.11:g.37837742G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn690Ser	rs1433403113	missense variant	-	NC_000008.11:g.37837749A>G	gnomAD
ADGRA2	Q96PE1	p.Thr692Arg	rs369802230	missense variant	-	NC_000008.11:g.37837755C>G	ESP
ADGRA2	Q96PE1	p.Glu693Asp	rs1386719440	missense variant	-	NC_000008.11:g.37837759G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro694Leu	rs1299742090	missense variant	-	NC_000008.11:g.37837761C>T	gnomAD
ADGRA2	Q96PE1	p.Ala696Thr	rs779341360	missense variant	-	NC_000008.11:g.37837766G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val697Ile	rs377569553	missense variant	-	NC_000008.11:g.37837769G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser698Leu	rs575195976	missense variant	-	NC_000008.11:g.37837773C>T	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg700Gln	rs777808856	missense variant	-	NC_000008.11:g.37837779G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg700Trp	rs768890920	missense variant	-	NC_000008.11:g.37837778C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Trp702Arg	rs375163748	missense variant	-	NC_000008.11:g.37837784T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Trp702Ter	rs770560706	stop gained	-	NC_000008.11:g.37837785G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Trp702Arg	rs375163748	missense variant	-	NC_000008.11:g.37837784T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala703Thr	rs774187173	missense variant	-	NC_000008.11:g.37837787G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Glu704Lys	rs1411282098	missense variant	-	NC_000008.11:g.37837790G>A	gnomAD
ADGRA2	Q96PE1	p.Ala706Pro	rs1286105782	missense variant	-	NC_000008.11:g.37837796G>C	TOPMed
ADGRA2	Q96PE1	p.Glu707Lys	rs200831475	missense variant	-	NC_000008.11:g.37837799G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro708Ser	rs1346166701	missense variant	-	NC_000008.11:g.37837802C>T	gnomAD
ADGRA2	Q96PE1	p.Pro708Thr	rs1346166701	missense variant	-	NC_000008.11:g.37837802C>A	gnomAD
ADGRA2	Q96PE1	p.Val709Met	rs956546580	missense variant	-	NC_000008.11:g.37837805G>A	TOPMed
ADGRA2	Q96PE1	p.Ala711Thr	rs992138314	missense variant	-	NC_000008.11:g.37837811G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala711Val	rs1337120182	missense variant	-	NC_000008.11:g.37837812C>T	TOPMed
ADGRA2	Q96PE1	p.Ser714Gly	rs923206790	missense variant	-	NC_000008.11:g.37837820A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser714Thr	rs953018817	missense variant	-	NC_000008.11:g.37837821G>C	TOPMed
ADGRA2	Q96PE1	p.Ser714Ile	rs953018817	missense variant	-	NC_000008.11:g.37837821G>T	TOPMed
ADGRA2	Q96PE1	p.Glu716Asp	rs1320726229	missense variant	-	NC_000008.11:g.37837828G>T	TOPMed
ADGRA2	Q96PE1	p.Glu716Lys	rs1287181742	missense variant	-	NC_000008.11:g.37837826G>A	gnomAD
ADGRA2	Q96PE1	p.Gly717Glu	rs985799684	missense variant	-	NC_000008.11:g.37837830G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly717Val	rs985799684	missense variant	-	NC_000008.11:g.37837830G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro718Thr	rs1384840050	missense variant	-	NC_000008.11:g.37837832C>A	TOPMed
ADGRA2	Q96PE1	p.Pro718Ser	rs1384840050	missense variant	-	NC_000008.11:g.37837832C>T	TOPMed
ADGRA2	Q96PE1	p.Gly719Arg	rs199996336	missense variant	-	NC_000008.11:g.37837835G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala721Asp	rs1219080812	missense variant	-	NC_000008.11:g.37837842C>A	gnomAD
ADGRA2	Q96PE1	p.Gly722Ala	rs1044641803	missense variant	-	NC_000008.11:g.37837845G>C	TOPMed
ADGRA2	Q96PE1	p.Gly722Glu	rs1044641803	missense variant	-	NC_000008.11:g.37837845G>A	TOPMed
ADGRA2	Q96PE1	p.Gly722Arg	rs1293909372	missense variant	-	NC_000008.11:g.37837844G>A	gnomAD
ADGRA2	Q96PE1	p.Gly723Cys	rs1190723275	missense variant	-	NC_000008.11:g.37837847G>T	TOPMed
ADGRA2	Q96PE1	p.Thr725Ile	rs1181303930	missense variant	-	NC_000008.11:g.37837854C>T	gnomAD
ADGRA2	Q96PE1	p.Ser726Leu	rs760136473	missense variant	-	NC_000008.11:g.37837857C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu727Lys	rs540455046	missense variant	-	NC_000008.11:g.37837859G>A	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly728Asp	rs1405194352	missense variant	-	NC_000008.11:g.37837863G>A	gnomAD
ADGRA2	Q96PE1	p.Gln730His	rs561721576	missense variant	-	NC_000008.11:g.37837870G>C	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu731Val	rs1036558150	missense variant	-	NC_000008.11:g.37837871C>G	TOPMed
ADGRA2	Q96PE1	p.Arg732His	rs373244928	missense variant	-	NC_000008.11:g.37837875G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg732Cys	rs762378669	missense variant	-	NC_000008.11:g.37837874C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser734Asn	rs1056707802	missense variant	-	NC_000008.11:g.37837881G>A	TOPMed
ADGRA2	Q96PE1	p.Asn737Ser	rs1279819569	missense variant	-	NC_000008.11:g.37837890A>G	gnomAD
ADGRA2	Q96PE1	p.Val738Ile	rs1377947947	missense variant	-	NC_000008.11:g.37837892G>A	gnomAD
ADGRA2	Q96PE1	p.Ala740Thr	rs1316926078	missense variant	-	NC_000008.11:g.37837898G>A	gnomAD
ADGRA2	Q96PE1	p.Cys743Tyr	rs1204356053	missense variant	-	NC_000008.11:g.37837908G>A	gnomAD
ADGRA2	Q96PE1	p.Gln744Arg	rs1272388919	missense variant	-	NC_000008.11:g.37837911A>G	gnomAD
ADGRA2	Q96PE1	p.His745Tyr	rs758733630	missense variant	-	NC_000008.11:g.37837913C>T	ExAC
ADGRA2	Q96PE1	p.His745Arg	rs896754986	missense variant	-	NC_000008.11:g.37837914A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn748Ser	rs1472603041	missense variant	-	NC_000008.11:g.37837923A>G	gnomAD
ADGRA2	Q96PE1	p.Ala750Val	rs1387474132	missense variant	-	NC_000008.11:g.37837929C>T	gnomAD
ADGRA2	Q96PE1	p.Ala750Ser	rs376518979	missense variant	-	NC_000008.11:g.37837928G>T	ESP,ExAC,gnomAD
ADGRA2	Q96PE1	p.Val751Met	rs755055053	missense variant	-	NC_000008.11:g.37837931G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu752Phe	rs901613763	missense variant	-	NC_000008.11:g.37837934C>T	gnomAD
ADGRA2	Q96PE1	p.Met753Thr	rs1411191890	missense variant	-	NC_000008.11:g.37837938T>C	gnomAD
ADGRA2	Q96PE1	p.Glu754Gly	rs755243275	missense variant	-	NC_000008.11:g.37838957A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser756Asn	rs1335523011	missense variant	-	NC_000008.11:g.37838963G>A	gnomAD
ADGRA2	Q96PE1	p.Ser756Arg	rs752796811	missense variant	-	NC_000008.11:g.37838964C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser756Arg	rs752796811	missense variant	-	NC_000008.11:g.37838964C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser756Gly	rs767906096	missense variant	-	NC_000008.11:g.37838962A>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala757Val	rs1438574092	missense variant	-	NC_000008.11:g.37838966C>T	TOPMed
ADGRA2	Q96PE1	p.Ala757Pro	rs143113584	missense variant	-	NC_000008.11:g.37838965G>C	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala757Thr	rs143113584	missense variant	-	NC_000008.11:g.37838965G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg760Lys	rs866647503	missense variant	-	NC_000008.11:g.37838975G>A	gnomAD
ADGRA2	Q96PE1	p.Gly763Arg	rs768275803	missense variant	-	NC_000008.11:g.37838983G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly763Val	rs1156377149	missense variant	-	NC_000008.11:g.37838984G>T	gnomAD
ADGRA2	Q96PE1	p.Gly764Asp	rs1322865383	missense variant	-	NC_000008.11:g.37838987G>A	gnomAD
ADGRA2	Q96PE1	p.Gly764Cys	rs776308461	missense variant	-	NC_000008.11:g.37838986G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala765Thr	rs377613583	missense variant	-	NC_000008.11:g.37838989G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly766Arg	rs531290202	missense variant	-	NC_000008.11:g.37838992G>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly766Arg	rs531290202	missense variant	-	NC_000008.11:g.37838992G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly766Ala	rs1228021414	missense variant	-	NC_000008.11:g.37838993G>C	gnomAD
ADGRA2	Q96PE1	p.Ala767Ser	rs1259183039	missense variant	-	NC_000008.11:g.37838995G>T	gnomAD
ADGRA2	Q96PE1	p.Gly768Arg	rs1353365321	missense variant	-	NC_000008.11:g.37838998G>A	gnomAD
ADGRA2	Q96PE1	p.Gly768Glu	rs1206069658	missense variant	-	NC_000008.11:g.37838999G>A	gnomAD
ADGRA2	Q96PE1	p.Leu769Met	rs760025113	missense variant	-	NC_000008.11:g.37839001C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu769Pro	COSM3899895	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37839002T>C	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.His770Tyr	rs1225311621	missense variant	-	NC_000008.11:g.37839004C>T	gnomAD
ADGRA2	Q96PE1	p.Pro771Ser	rs752892180	missense variant	-	NC_000008.11:g.37839007C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro771His	rs760757462	missense variant	-	NC_000008.11:g.37839008C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val772Leu	rs141853893	missense variant	-	NC_000008.11:g.37839010G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val772Met	rs141853893	missense variant	-	NC_000008.11:g.37839010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val772Leu	rs141853893	missense variant	-	NC_000008.11:g.37839010G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val772Ala	rs1223542591	missense variant	-	NC_000008.11:g.37839011T>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val773Ile	rs1363429268	missense variant	-	NC_000008.11:g.37839013G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Tyr774Ter	rs1424423091	stop gained	-	NC_000008.11:g.37839018C>A	TOPMed
ADGRA2	Q96PE1	p.Pro775Leu	rs754799749	missense variant	-	NC_000008.11:g.37839020C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Thr777Ala	rs150613930	missense variant	-	NC_000008.11:g.37839025A>G	ESP
ADGRA2	Q96PE1	p.Thr777Met	rs758313655	missense variant	-	NC_000008.11:g.37839026C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu782Phe	rs1239984335	missense variant	-	NC_000008.11:g.37839040C>T	gnomAD
ADGRA2	Q96PE1	p.Cys783Gly	rs771538504	missense variant	-	NC_000008.11:g.37839043T>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Phe785Leu	rs530892647	missense variant	-	NC_000008.11:g.37839051C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala786Pro	rs139221615	missense variant	-	NC_000008.11:g.37839052G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala786Thr	rs139221615	missense variant	-	NC_000008.11:g.37839052G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr787Ile	rs1482469169	missense variant	-	NC_000008.11:g.37839056C>T	gnomAD
ADGRA2	Q96PE1	p.Ile789Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37839061A>G	NCI-TCGA
ADGRA2	Q96PE1	p.Ile792Ser	rs764442933	missense variant	-	NC_000008.11:g.37839071T>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn794Thr	rs753840651	missense variant	-	NC_000008.11:g.37839077A>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asn794Asp	rs1186330068	missense variant	-	NC_000008.11:g.37839076A>G	gnomAD
ADGRA2	Q96PE1	p.Ser797Pro	COSM2153158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37839500T>C	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Ile798Asn	rs780651961	missense variant	-	NC_000008.11:g.37839504T>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg799Pro	rs372478146	missense variant	-	NC_000008.11:g.37839507G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg799Cys	rs769088412	missense variant	-	NC_000008.11:g.37839506C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg799His	rs372478146	missense variant	-	NC_000008.11:g.37839507G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg802Gln	rs770071611	missense variant	-	NC_000008.11:g.37839516G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg802Trp	rs748376886	missense variant	-	NC_000008.11:g.37839515C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Trp805Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37839525G>T	NCI-TCGA
ADGRA2	Q96PE1	p.Trp805Gly	rs1427226768	missense variant	-	NC_000008.11:g.37839524T>G	gnomAD
ADGRA2	Q96PE1	p.Met807Thr	rs773272082	missense variant	-	NC_000008.11:g.37839531T>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Met807Leu	rs1177336700	missense variant	-	NC_000008.11:g.37839530A>C	gnomAD
ADGRA2	Q96PE1	p.Asn810Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37839540A>G	NCI-TCGA
ADGRA2	Q96PE1	p.Leu811Met	rs1452064107	missense variant	-	NC_000008.11:g.37839542T>A	gnomAD
ADGRA2	Q96PE1	p.Leu811Phe	rs1291196279	missense variant	-	NC_000008.11:g.37839544G>C	gnomAD
ADGRA2	Q96PE1	p.Leu811Val	COSM3899897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37839542T>G	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Cys812Tyr	rs142623497	missense variant	-	NC_000008.11:g.37839546G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ile815Lys	rs1404838590	missense variant	-	NC_000008.11:g.37839555T>A	gnomAD
ADGRA2	Q96PE1	p.Ser819Pro	rs767322373	missense variant	-	NC_000008.11:g.37839566T>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala823Val	rs775525561	missense variant	-	NC_000008.11:g.37839579C>T	ExAC,TOPMed
ADGRA2	Q96PE1	p.Ile826Val	rs61745949	missense variant	-	NC_000008.11:g.37839587A>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn830Ser	rs765040936	missense variant	-	NC_000008.11:g.37839600A>G	ExAC,TOPMed
ADGRA2	Q96PE1	p.Asn830Lys	rs1217636556	missense variant	-	NC_000008.11:g.37839601C>A	gnomAD
ADGRA2	Q96PE1	p.Gln832Arg	rs139902661	missense variant	-	NC_000008.11:g.37839606A>G	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Met833Thr	rs1455239338	missense variant	-	NC_000008.11:g.37839609T>C	TOPMed
ADGRA2	Q96PE1	p.Val834Phe	rs371352921	missense variant	-	NC_000008.11:g.37839611G>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val834Ile	rs371352921	missense variant	-	NC_000008.11:g.37839611G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Cys835Tyr	rs780377873	missense variant	-	NC_000008.11:g.37839615G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Cys835Phe	rs780377873	missense variant	-	NC_000008.11:g.37839615G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gln836His	rs755232703	missense variant	-	NC_000008.11:g.37839619G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala837Val	rs781535229	missense variant	-	NC_000008.11:g.37839621C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala837Glu	rs781535229	missense variant	-	NC_000008.11:g.37839621C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val838Gly	rs1272395797	missense variant	-	NC_000008.11:g.37840122T>G	gnomAD
ADGRA2	Q96PE1	p.Gly839Asp	rs1305775305	missense variant	-	NC_000008.11:g.37840125G>A	gnomAD
ADGRA2	Q96PE1	p.Leu842Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37840133C>G	NCI-TCGA
ADGRA2	Q96PE1	p.Ser845Tyr	rs1245296301	missense variant	-	NC_000008.11:g.37840143C>A	gnomAD
ADGRA2	Q96PE1	p.Leu847Ile	COSM5299872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37840148C>A	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Thr849Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37840155C>G	NCI-TCGA
ADGRA2	Q96PE1	p.Thr849Met	rs772675064	missense variant	-	NC_000008.11:g.37840155C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu851Phe	rs766008035	missense variant	-	NC_000008.11:g.37840160C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly854Ala	rs144437753	missense variant	-	NC_000008.11:g.37840170G>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val855Leu	rs759091895	missense variant	-	NC_000008.11:g.37840172G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val855Met	rs759091895	missense variant	-	NC_000008.11:g.37840172G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala857Val	rs767967328	missense variant	-	NC_000008.11:g.37840179C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg858Ter	rs1383182850	stop gained	-	NC_000008.11:g.37840181C>T	gnomAD
ADGRA2	Q96PE1	p.Arg858Gln	rs377055388	missense variant	-	NC_000008.11:g.37840182G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val859Met	rs778113007	missense variant	-	NC_000008.11:g.37840184G>A	ExAC
ADGRA2	Q96PE1	p.His861Leu	rs754221491	missense variant	-	NC_000008.11:g.37840191A>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.His861Arg	rs754221491	missense variant	-	NC_000008.11:g.37840191A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Lys862Glu	rs183489099	missense variant	-	NC_000008.11:g.37840193A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu863Ala	rs1258744368	missense variant	-	NC_000008.11:g.37840197A>C	gnomAD
ADGRA2	Q96PE1	p.Glu863Lys	rs267601912	missense variant	-	NC_000008.11:g.37840196G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Thr865Ile	rs772301014	missense variant	-	NC_000008.11:g.37840203C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Trp866Ser	rs907234284	missense variant	-	NC_000008.11:g.37840206G>C	TOPMed
ADGRA2	Q96PE1	p.Ala868Val	rs1443346346	missense variant	-	NC_000008.11:g.37840212C>T	gnomAD
ADGRA2	Q96PE1	p.Ala868Thr	rs748099795	missense variant	-	NC_000008.11:g.37840211G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro869Leu	rs1240840102	missense variant	-	NC_000008.11:g.37840215C>T	gnomAD
ADGRA2	Q96PE1	p.Pro869His	rs1240840102	missense variant	-	NC_000008.11:g.37840215C>A	gnomAD
ADGRA2	Q96PE1	p.Pro869Thr	rs145530012	missense variant	-	NC_000008.11:g.37840214C>A	ESP,ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro870Thr	rs148423972	missense variant	-	NC_000008.11:g.37840217C>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro870Leu	rs749083382	missense variant	-	NC_000008.11:g.37840218C>T	ExAC
ADGRA2	Q96PE1	p.Pro871Ala	rs1427930078	missense variant	-	NC_000008.11:g.37840220C>G	gnomAD
ADGRA2	Q96PE1	p.Pro871Leu	rs773911451	missense variant	-	NC_000008.11:g.37840221C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro871Arg	rs773911451	missense variant	-	NC_000008.11:g.37840221C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro871Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37840220C>T	NCI-TCGA
ADGRA2	Q96PE1	p.Glu873Ter	rs775911317	stop gained	-	NC_000008.11:g.37840226G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp875Glu	rs761168688	missense variant	-	NC_000008.11:g.37840234C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro876Ser	rs764568155	missense variant	-	NC_000008.11:g.37840235C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala877Asp	rs751441114	missense variant	-	NC_000008.11:g.37840239C>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala877Thr	rs371552298	missense variant	-	NC_000008.11:g.37840238G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala877Val	rs751441114	missense variant	-	NC_000008.11:g.37840239C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro879Leu	COSM1319704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37840245C>T	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Pro883Leu	rs750687452	missense variant	-	NC_000008.11:g.37840257C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Met884Val	rs1449262122	missense variant	-	NC_000008.11:g.37840259A>G	gnomAD
ADGRA2	Q96PE1	p.Leu885Phe	rs780275066	missense variant	-	NC_000008.11:g.37840262C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg886Trp	rs757191897	missense variant	-	NC_000008.11:g.37840265C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg886Gln	rs756095204	missense variant	-	NC_000008.11:g.37840266G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Tyr888His	rs749200916	missense variant	-	NC_000008.11:g.37840764T>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu889Phe	rs1210807569	missense variant	-	NC_000008.11:g.37840769G>C	TOPMed
ADGRA2	Q96PE1	p.Leu889Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37840767T>G	NCI-TCGA
ADGRA2	Q96PE1	p.Ala891Pro	rs142650653	missense variant	-	NC_000008.11:g.37840773G>C	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala891Thr	rs142650653	missense variant	-	NC_000008.11:g.37840773G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala891Ser	rs142650653	missense variant	-	NC_000008.11:g.37840773G>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly893Trp	COSM3899899	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37840779G>T	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Ile897Phe	rs746482373	missense variant	-	NC_000008.11:g.37840791A>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ile897Thr	rs1425743224	missense variant	-	NC_000008.11:g.37840792T>C	gnomAD
ADGRA2	Q96PE1	p.Thr902Ala	rs1446373779	missense variant	-	NC_000008.11:g.37840806A>G	gnomAD
ADGRA2	Q96PE1	p.Val905Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37840816T>C	NCI-TCGA
ADGRA2	Q96PE1	p.Asn906Asp	rs369548076	missense variant	-	NC_000008.11:g.37840818A>G	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn909Ser	rs1402694868	missense variant	-	NC_000008.11:g.37840828A>G	gnomAD
ADGRA2	Q96PE1	p.Arg911Gln	rs751849563	missense variant	-	NC_000008.11:g.37840834G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg911Pro	rs751849563	missense variant	-	NC_000008.11:g.37840834G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg911Leu	rs751849563	missense variant	-	NC_000008.11:g.37840834G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg911Trp	rs763448627	missense variant	-	NC_000008.11:g.37840833C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp912His	rs201558463	missense variant	-	NC_000008.11:g.37840836G>C	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp912Glu	rs1325995074	missense variant	-	NC_000008.11:g.37840838C>A	gnomAD
ADGRA2	Q96PE1	p.Ser914Arg	rs752892514	missense variant	-	NC_000008.11:g.37840844C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro915Ala	rs757131775	missense variant	-	NC_000008.11:g.37840845C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro915Thr	rs757131775	missense variant	-	NC_000008.11:g.37840845C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro915Leu	rs1224586217	missense variant	-	NC_000008.11:g.37840846C>T	gnomAD
ADGRA2	Q96PE1	p.Pro915Ser	rs757131775	missense variant	-	NC_000008.11:g.37840845C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val920Gly	rs778362084	missense variant	-	NC_000008.11:g.37841097T>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg922Cys	rs1356885209	missense variant	-	NC_000008.11:g.37841102C>T	TOPMed
ADGRA2	Q96PE1	p.Arg922His	rs370345639	missense variant	-	NC_000008.11:g.37841103G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg922Leu	rs370345639	missense variant	-	NC_000008.11:g.37841103G>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser924Arg	rs141716507	missense variant	-	NC_000008.11:g.37841110C>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser924Arg	rs141716507	missense variant	-	NC_000008.11:g.37841110C>G	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly926Asp	rs1300957890	missense variant	-	NC_000008.11:g.37841115G>A	gnomAD
ADGRA2	Q96PE1	p.Ala927Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37841117G>A	NCI-TCGA
ADGRA2	Q96PE1	p.Ala927Val	COSM3374907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841118C>T	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Phe928Leu	rs1219402193	missense variant	-	NC_000008.11:g.37841120T>C	gnomAD
ADGRA2	Q96PE1	p.Tyr929Cys	rs1313171967	missense variant	-	NC_000008.11:g.37841124A>G	gnomAD
ADGRA2	Q96PE1	p.Tyr929Asn	rs1306025645	missense variant	-	NC_000008.11:g.37841123T>A	gnomAD
ADGRA2	Q96PE1	p.Ile930Asn	rs150449738	missense variant	-	NC_000008.11:g.37841127T>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro931His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37841130C>A	NCI-TCGA
ADGRA2	Q96PE1	p.Pro931Thr	rs1242316929	missense variant	-	NC_000008.11:g.37841129C>A	gnomAD
ADGRA2	Q96PE1	p.Val932Ala	rs746295606	missense variant	-	NC_000008.11:g.37841133T>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ile935Met	rs1431704568	missense variant	-	NC_000008.11:g.37841143T>G	TOPMed
ADGRA2	Q96PE1	p.Ile938Phe	rs1347202257	missense variant	-	NC_000008.11:g.37841150A>T	TOPMed
ADGRA2	Q96PE1	p.Ile938Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37841151T>A	NCI-TCGA
ADGRA2	Q96PE1	p.Trp940Cys	rs138242573	missense variant	-	NC_000008.11:g.37841158G>C	ESP,ExAC,gnomAD
ADGRA2	Q96PE1	p.Ile941Thr	rs1489591218	missense variant	-	NC_000008.11:g.37841160T>C	gnomAD
ADGRA2	Q96PE1	p.Tyr942Cys	rs760624362	missense variant	-	NC_000008.11:g.37841163A>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Phe943Cys	rs776758784	missense variant	-	NC_000008.11:g.37841166T>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Cys945Tyr	rs762863482	missense variant	-	NC_000008.11:g.37841172G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala946Ser	rs201911857	missense variant	-	NC_000008.11:g.37841174G>T	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala946Val	COSM1456834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841175C>T	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Gly947Arg	rs754829886	missense variant	-	NC_000008.11:g.37841177G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg949Cys	rs755614655	missense variant	-	NC_000008.11:g.37841183C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg949Gly	rs755614655	missense variant	-	NC_000008.11:g.37841183C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg951Trp	rs1041754275	missense variant	-	NC_000008.11:g.37841189C>T	TOPMed
ADGRA2	Q96PE1	p.Arg951Pro	rs748868656	missense variant	-	NC_000008.11:g.37841190G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg951Gln	rs748868656	missense variant	-	NC_000008.11:g.37841190G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly952Asp	rs7008199	missense variant	-	NC_000008.11:g.37841193G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly952Ser	rs1460440453	missense variant	-	NC_000008.11:g.37841192G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro953Leu	rs779516234	missense variant	-	NC_000008.11:g.37841196C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu954Arg	rs1041274486	missense variant	-	NC_000008.11:g.37841199T>G	TOPMed
ADGRA2	Q96PE1	p.Pro958His	COSM6181008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841211C>A	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Ala960Glu	rs201369862	missense variant	-	NC_000008.11:g.37841217C>A	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala960Val	rs201369862	missense variant	-	NC_000008.11:g.37841217C>T	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly961Asp	rs113694495	missense variant	-	NC_000008.11:g.37841220G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser963Ile	rs1250938162	missense variant	-	NC_000008.11:g.37841226G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg964Trp	rs776668838	missense variant	-	NC_000008.11:g.37841228A>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg964Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37841228A>G	NCI-TCGA
ADGRA2	Q96PE1	p.Arg964Lys	rs1180920479	missense variant	-	NC_000008.11:g.37841229G>A	gnomAD
ADGRA2	Q96PE1	p.Arg964Ser	COSM3779202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841230G>T	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Leu967Pro	rs1363539992	missense variant	-	NC_000008.11:g.37841238T>C	gnomAD
ADGRA2	Q96PE1	p.Glu968Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.37841240G>T	NCI-TCGA
ADGRA2	Q96PE1	p.Ala969Gly	rs376958708	missense variant	-	NC_000008.11:g.37841244C>G	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala969Ser	rs1180559166	missense variant	-	NC_000008.11:g.37841243G>T	gnomAD
ADGRA2	Q96PE1	p.Ala969Glu	rs376958708	missense variant	-	NC_000008.11:g.37841244C>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu972Gly	rs1456111888	missense variant	-	NC_000008.11:g.37841253A>G	gnomAD
ADGRA2	Q96PE1	p.Gly975Ala	rs1466828232	missense variant	-	NC_000008.11:g.37841262G>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly975Asp	rs1466828232	missense variant	-	NC_000008.11:g.37841262G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser976Pro	rs1331798669	missense variant	-	NC_000008.11:g.37841264T>C	gnomAD
ADGRA2	Q96PE1	p.Thr977Ser	rs530712014	missense variant	-	NC_000008.11:g.37841268C>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg978Thr	rs201954593	missense variant	-	NC_000008.11:g.37841271G>C	1000Genomes,ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg978Ser	COSM3929559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841272G>T	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Gly983Val	rs1272313142	missense variant	-	NC_000008.11:g.37841286G>T	gnomAD
ADGRA2	Q96PE1	p.Gly983Ser	rs1228938865	missense variant	-	NC_000008.11:g.37841285G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly983Asp	rs1272313142	missense variant	-	NC_000008.11:g.37841286G>A	gnomAD
ADGRA2	Q96PE1	p.Pro984Leu	rs1429852243	missense variant	-	NC_000008.11:g.37841289C>T	TOPMed
ADGRA2	Q96PE1	p.Leu985Phe	rs752505630	missense variant	-	NC_000008.11:g.37841291C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu985ProPheSerTerUnk	COSM5188986	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.37841292T>-	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Leu993Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37841315C>T	NCI-TCGA
ADGRA2	Q96PE1	p.Ala994Val	rs1461145040	missense variant	-	NC_000008.11:g.37841319C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala994Ser	rs1259122253	missense variant	-	NC_000008.11:g.37841318G>T	gnomAD
ADGRA2	Q96PE1	p.Ala994Gly	rs1461145040	missense variant	-	NC_000008.11:g.37841319C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr995Ser	rs1469350007	missense variant	-	NC_000008.11:g.37841322C>G	gnomAD
ADGRA2	Q96PE1	p.Gly996Arg	rs763890538	missense variant	-	NC_000008.11:g.37841324G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly996Val	rs753371201	missense variant	-	NC_000008.11:g.37841325G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser997Arg	rs756859682	missense variant	-	NC_000008.11:g.37841329C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ser997Thr	rs912341043	missense variant	-	NC_000008.11:g.37841328G>C	TOPMed
ADGRA2	Q96PE1	p.Ser997Asn	rs912341043	missense variant	-	NC_000008.11:g.37841328G>A	TOPMed
ADGRA2	Q96PE1	p.Ala998Gly	rs942415743	missense variant	-	NC_000008.11:g.37841331C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala998Pro	rs1420753051	missense variant	-	NC_000008.11:g.37841330G>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala998Val	rs942415743	missense variant	-	NC_000008.11:g.37841331C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg999Pro	rs142683741	missense variant	-	NC_000008.11:g.37841334G>C	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg999Gln	rs142683741	missense variant	-	NC_000008.11:g.37841334G>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr1002Pro	rs747422034	missense variant	-	NC_000008.11:g.37841342A>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Thr1002Met	rs1359693648	missense variant	-	NC_000008.11:g.37841343C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro1003Thr	rs768832473	missense variant	-	NC_000008.11:g.37841345C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly1004Glu	rs1338442020	missense variant	-	NC_000008.11:g.37841349G>A	gnomAD
ADGRA2	Q96PE1	p.Pro1005Ser	rs1220751594	missense variant	-	NC_000008.11:g.37841351C>T	gnomAD
ADGRA2	Q96PE1	p.Pro1006Arg	rs748174380	missense variant	-	NC_000008.11:g.37841355C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro1006Ser	rs1323342163	missense variant	-	NC_000008.11:g.37841354C>T	gnomAD
ADGRA2	Q96PE1	p.Glu1007Ala	rs769927522	missense variant	-	NC_000008.11:g.37841358A>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp1008Asn	rs774085335	missense variant	-	NC_000008.11:g.37841360G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp1010Asn	rs1225288397	missense variant	-	NC_000008.11:g.37841366G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp1010Ala	rs369840363	missense variant	-	NC_000008.11:g.37841367A>C	ESP,ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp1010Val	rs369840363	missense variant	-	NC_000008.11:g.37841367A>T	ESP,ExAC,gnomAD
ADGRA2	Q96PE1	p.Asp1010Glu	rs775407688	missense variant	-	NC_000008.11:g.37841368C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser1011Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37841370G>A	NCI-TCGA
ADGRA2	Q96PE1	p.Leu1012Phe	rs760589310	missense variant	-	NC_000008.11:g.37841372C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Tyr1013Ser	rs763801831	missense variant	-	NC_000008.11:g.37841376A>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser1014Phe	rs1476808363	missense variant	-	NC_000008.11:g.37841379C>T	gnomAD
ADGRA2	Q96PE1	p.Pro1015Leu	rs761350049	missense variant	-	NC_000008.11:g.37841382C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly1016Arg	rs113275053	missense variant	-	NC_000008.11:g.37841384G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1016Arg	rs113275053	missense variant	-	NC_000008.11:g.37841384G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1016Glu	rs1358750536	missense variant	-	NC_000008.11:g.37841385G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1017Phe	rs1430994625	missense variant	-	NC_000008.11:g.37841387G>T	TOPMed
ADGRA2	Q96PE1	p.Ala1021Val	rs1401903888	missense variant	-	NC_000008.11:g.37841400C>T	gnomAD
ADGRA2	Q96PE1	p.Val1023Leu	rs755354731	missense variant	-	NC_000008.11:g.37841405G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1023Met	rs755354731	missense variant	-	NC_000008.11:g.37841405G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr1024Ser	rs568141708	missense variant	-	NC_000008.11:g.37841409C>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Tyr1029His	rs1223782803	missense variant	-	NC_000008.11:g.37841423T>C	gnomAD
ADGRA2	Q96PE1	p.Leu1030Phe	rs1284464590	missense variant	-	NC_000008.11:g.37841428G>T	gnomAD
ADGRA2	Q96PE1	p.Ala1031Thr	rs769973299	missense variant	-	NC_000008.11:g.37841429G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Met1032Ile	rs777899295	missense variant	-	NC_000008.11:g.37841434G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Met1032Ile	rs777899295	missense variant	-	NC_000008.11:g.37841434G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1034Thr	rs749380224	missense variant	-	NC_000008.11:g.37841438G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1037Val	rs772018113	missense variant	-	NC_000008.11:g.37841448C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala1037Thr	rs547298880	missense variant	-	NC_000008.11:g.37841447G>A	gnomAD
ADGRA2	Q96PE1	p.Ala1037Ser	rs547298880	missense variant	-	NC_000008.11:g.37841447G>T	gnomAD
ADGRA2	Q96PE1	p.Ala1039Val	rs775602160	missense variant	-	NC_000008.11:g.37841454C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val1040Ala	rs756174004	missense variant	-	NC_000008.11:g.37841457T>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1040Gly	rs756174004	missense variant	-	NC_000008.11:g.37841457T>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1040Met	rs1265308630	missense variant	-	NC_000008.11:g.37841456G>A	TOPMed
ADGRA2	Q96PE1	p.Ser1041Cys	rs1420195777	missense variant	-	NC_000008.11:g.37841460C>G	gnomAD
ADGRA2	Q96PE1	p.Arg1043Cys	rs139962707	missense variant	-	NC_000008.11:g.37841465C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro1046Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37841474C>T	NCI-TCGA
ADGRA2	Q96PE1	p.Arg1047Trp	rs200293123	missense variant	-	NC_000008.11:g.37841477C>T	1000Genomes,gnomAD
ADGRA2	Q96PE1	p.Arg1047Pro	rs764845625	missense variant	-	NC_000008.11:g.37841478G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1047Gln	rs764845625	missense variant	-	NC_000008.11:g.37841478G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1048Leu	rs749917604	missense variant	-	NC_000008.11:g.37841480G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Cys1050Arg	rs1379802397	missense variant	-	NC_000008.11:g.37841486T>C	gnomAD
ADGRA2	Q96PE1	p.Ser1051Arg	rs1290410753	missense variant	-	NC_000008.11:g.37841491C>G	gnomAD
ADGRA2	Q96PE1	p.Cys1052Ser	rs141777717	missense variant	-	NC_000008.11:g.37841493G>C	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Tyr1054His	rs1290122998	missense variant	-	NC_000008.11:g.37841498T>C	gnomAD
ADGRA2	Q96PE1	p.Tyr1054Cys	COSM3899900	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841499A>G	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Val1056Leu	rs752071465	missense variant	-	NC_000008.11:g.37841504G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1056Met	rs752071465	missense variant	-	NC_000008.11:g.37841504G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1057Val	rs1239705191	missense variant	-	NC_000008.11:g.37841508C>T	gnomAD
ADGRA2	Q96PE1	p.Ser1059Phe	rs1202308149	missense variant	-	NC_000008.11:g.37841514C>T	gnomAD
ADGRA2	Q96PE1	p.Leu1061Val	rs755266710	missense variant	-	NC_000008.11:g.37841519C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly1062Ser	rs767859049	missense variant	-	NC_000008.11:g.37841522G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu1063Ile	rs1048315197	missense variant	-	NC_000008.11:g.37841525C>A	TOPMed
ADGRA2	Q96PE1	p.Leu1063His	COSM1496912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.37841526T>A	NCI-TCGA Cosmic
ADGRA2	Q96PE1	p.Phe1064Cys	rs753115689	missense variant	-	NC_000008.11:g.37841529T>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val1065Leu	rs1391749637	missense variant	-	NC_000008.11:g.37841531G>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Phe1066Leu	rs374098613	missense variant	-	NC_000008.11:g.37841534T>C	ESP,gnomAD
ADGRA2	Q96PE1	p.Thr1067Ser	rs1430569333	missense variant	-	NC_000008.11:g.37841537A>T	gnomAD
ADGRA2	Q96PE1	p.His1068Gln	rs1329734120	missense variant	-	NC_000008.11:g.37841542C>G	gnomAD
ADGRA2	Q96PE1	p.His1069Tyr	rs1402830241	missense variant	-	NC_000008.11:g.37841543C>T	gnomAD
ADGRA2	Q96PE1	p.His1069Arg	rs1448236587	missense variant	-	NC_000008.11:g.37841544A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Cys1070Gly	rs1161057086	missense variant	-	NC_000008.11:g.37841546T>G	TOPMed
ADGRA2	Q96PE1	p.Arg1072Gly	rs1338228751	missense variant	-	NC_000008.11:g.37841552A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1072Lys	rs1249746713	missense variant	-	NC_000008.11:g.37841553G>A	TOPMed
ADGRA2	Q96PE1	p.Val1076Ala	rs958810002	missense variant	-	NC_000008.11:g.37841565T>C	TOPMed
ADGRA2	Q96PE1	p.Val1076Gly	rs958810002	missense variant	-	NC_000008.11:g.37841565T>G	TOPMed
ADGRA2	Q96PE1	p.Arg1077Lys	rs777902269	missense variant	-	NC_000008.11:g.37841568G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Trp1080Ter	rs749350802	stop gained	-	NC_000008.11:g.37841577G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1081Cys	rs376728910	missense variant	-	NC_000008.11:g.37841579C>T	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1081Ser	rs376728910	missense variant	-	NC_000008.11:g.37841579C>A	ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1082Ser	rs868836566	missense variant	-	NC_000008.11:g.37841582G>T	gnomAD
ADGRA2	Q96PE1	p.Ala1082Thr	rs868836566	missense variant	-	NC_000008.11:g.37841582G>A	gnomAD
ADGRA2	Q96PE1	p.Cys1084Ser	rs199842189	missense variant	-	NC_000008.11:g.37841588T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Cys1084Gly	rs199842189	missense variant	-	NC_000008.11:g.37841588T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro1085Arg	rs776543886	missense variant	-	NC_000008.11:g.37841592C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro1085Ala	rs1462691443	missense variant	-	NC_000008.11:g.37841591C>G	gnomAD
ADGRA2	Q96PE1	p.Pro1086Ser	rs1477625269	missense variant	-	NC_000008.11:g.37841594C>T	gnomAD
ADGRA2	Q96PE1	p.Pro1086Arg	rs747933682	missense variant	-	NC_000008.11:g.37841595C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1087Val	rs769445882	missense variant	-	NC_000008.11:g.37841598C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1090Glu	rs1400734808	missense variant	-	NC_000008.11:g.37841607C>A	gnomAD
ADGRA2	Q96PE1	p.Ala1090Pro	rs762464508	missense variant	-	NC_000008.11:g.37841606G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1090Thr	rs762464508	missense variant	-	NC_000008.11:g.37841606G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1091Asp	rs13267286	missense variant	-	NC_000008.11:g.37841610C>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1091Val	rs13267286	missense variant	-	NC_000008.11:g.37841610C>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.His1093Arg	rs1216485029	missense variant	-	NC_000008.11:g.37841616A>G	gnomAD
ADGRA2	Q96PE1	p.Ala1094Ser	rs760019897	missense variant	-	NC_000008.11:g.37841618G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1094Gly	rs1290351323	missense variant	-	NC_000008.11:g.37841619C>G	TOPMed
ADGRA2	Q96PE1	p.Arg1097Pro	rs1253981709	missense variant	-	NC_000008.11:g.37841628G>C	gnomAD
ADGRA2	Q96PE1	p.Arg1097Leu	rs1253981709	missense variant	-	NC_000008.11:g.37841628G>T	gnomAD
ADGRA2	Q96PE1	p.Ala1098Val	rs956818746	missense variant	-	NC_000008.11:g.37841631C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu1099Pro	rs1200906470	missense variant	-	NC_000008.11:g.37841634T>C	gnomAD
ADGRA2	Q96PE1	p.Pro1100Ser	rs1257016904	missense variant	-	NC_000008.11:g.37841636C>T	gnomAD
ADGRA2	Q96PE1	p.Ala1101Val	rs753078704	missense variant	-	NC_000008.11:g.37841640C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1102Thr	rs1426019866	missense variant	-	NC_000008.11:g.37841642G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1102Val	rs756468268	missense variant	-	NC_000008.11:g.37841643C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala1103Thr	rs1175806640	missense variant	-	NC_000008.11:g.37841645G>A	gnomAD
ADGRA2	Q96PE1	p.Ala1103Ser	rs1175806640	missense variant	-	NC_000008.11:g.37841645G>T	gnomAD
ADGRA2	Q96PE1	p.Glu1104Lys	rs754021456	missense variant	-	NC_000008.11:g.37841648G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu1104Gln	rs754021456	missense variant	-	NC_000008.11:g.37841648G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu1104Ter	rs754021456	stop gained	-	NC_000008.11:g.37841648G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1106Cys	rs779131291	missense variant	-	NC_000008.11:g.37841654G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1106Ser	rs779131291	missense variant	-	NC_000008.11:g.37841654G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1106Arg	rs779131291	missense variant	-	NC_000008.11:g.37841654G>C	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser1107Thr	rs1299447174	missense variant	-	NC_000008.11:g.37841657T>A	gnomAD
ADGRA2	Q96PE1	p.Pro1108Leu	rs746003915	missense variant	-	NC_000008.11:g.37841661C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1109Leu	rs541187375	missense variant	-	NC_000008.11:g.37841663G>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1109Met	rs541187375	missense variant	-	NC_000008.11:g.37841663G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Phe1110Leu	rs781307380	missense variant	-	NC_000008.11:g.37841668C>A	ExAC
ADGRA2	Q96PE1	p.Gly1111Val	rs769489251	missense variant	-	NC_000008.11:g.37841670G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly1111Arg	rs747927631	missense variant	-	NC_000008.11:g.37841669G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly1111Glu	rs769489251	missense variant	-	NC_000008.11:g.37841670G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly1111Arg	rs747927631	missense variant	-	NC_000008.11:g.37841669G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Glu1112Ter	rs748884279	stop gained	-	NC_000008.11:g.37841672G>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly1113Val	rs770625350	missense variant	-	NC_000008.11:g.37841676G>T	ExAC,TOPMed
ADGRA2	Q96PE1	p.Pro1114Ala	rs1047671964	missense variant	-	NC_000008.11:g.37841678C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro1114Leu	rs1427075467	missense variant	-	NC_000008.11:g.37841679C>T	TOPMed
ADGRA2	Q96PE1	p.Pro1114Ser	rs1047671964	missense variant	-	NC_000008.11:g.37841678C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro1115His	rs759090049	missense variant	-	NC_000008.11:g.37841682C>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro1115Arg	rs759090049	missense variant	-	NC_000008.11:g.37841682C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Pro1115Ser	rs1265793098	missense variant	-	NC_000008.11:g.37841681C>T	gnomAD
ADGRA2	Q96PE1	p.Leu1117Phe	rs1380251423	missense variant	-	NC_000008.11:g.37841687C>T	gnomAD
ADGRA2	Q96PE1	p.Lys1118Arg	rs1223713948	missense variant	-	NC_000008.11:g.37841691A>G	TOPMed
ADGRA2	Q96PE1	p.Lys1118Asn	rs1418363718	missense variant	-	NC_000008.11:g.37841692G>C	gnomAD
ADGRA2	Q96PE1	p.Pro1121Leu	rs1360541916	missense variant	-	NC_000008.11:g.37841700C>T	gnomAD
ADGRA2	Q96PE1	p.Ser1122Gly	rs767973506	missense variant	-	NC_000008.11:g.37841702A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Gly1123Cys	rs1003522135	missense variant	-	NC_000008.11:g.37841705G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1123Arg	rs1003522135	missense variant	-	NC_000008.11:g.37841705G>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser1124Gly	rs1308193330	missense variant	-	NC_000008.11:g.37841708A>G	gnomAD
ADGRA2	Q96PE1	p.Ser1125Gly	rs1290218812	missense variant	-	NC_000008.11:g.37841711A>G	TOPMed
ADGRA2	Q96PE1	p.His1127Arg	rs1242162355	missense variant	-	NC_000008.11:g.37841718A>G	gnomAD
ADGRA2	Q96PE1	p.His1127Tyr	rs1374579875	missense variant	-	NC_000008.11:g.37841717C>T	gnomAD
ADGRA2	Q96PE1	p.Pro1128Leu	rs1288327066	missense variant	-	NC_000008.11:g.37841721C>T	gnomAD
ADGRA2	Q96PE1	p.Cys1134Tyr	rs376732365	missense variant	-	NC_000008.11:g.37841739G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Lys1135Glu	rs1271545212	missense variant	-	NC_000008.11:g.37841741A>G	TOPMed
ADGRA2	Q96PE1	p.Leu1136Phe	rs1224743797	missense variant	-	NC_000008.11:g.37841744C>T	TOPMed
ADGRA2	Q96PE1	p.Thr1137Ile	rs1263881654	missense variant	-	NC_000008.11:g.37841748C>T	gnomAD
ADGRA2	Q96PE1	p.Gln1143Arg	rs754298652	missense variant	-	NC_000008.11:g.37841766A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Val1146Gly	rs111828443	missense variant	-	NC_000008.11:g.37841775T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1146Ala	rs111828443	missense variant	-	NC_000008.11:g.37841775T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1149Glu	rs765595520	missense variant	-	NC_000008.11:g.37841784C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1149Gly	rs765595520	missense variant	-	NC_000008.11:g.37841784C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1149Pro	rs1397352522	missense variant	-	NC_000008.11:g.37841783G>C	TOPMed
ADGRA2	Q96PE1	p.Ala1149Val	rs765595520	missense variant	-	NC_000008.11:g.37841784C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1150Arg	rs1200510742	missense variant	-	NC_000008.11:g.37841786G>C	TOPMed
ADGRA2	Q96PE1	p.Ala1151Val	rs1267360006	missense variant	-	NC_000008.11:g.37841790C>T	TOPMed
ADGRA2	Q96PE1	p.Ala1151Thr	rs1330447282	missense variant	-	NC_000008.11:g.37841789G>A	gnomAD
ADGRA2	Q96PE1	p.Ala1152Val	rs1448997725	missense variant	-	NC_000008.11:g.37841793C>T	gnomAD
ADGRA2	Q96PE1	p.Gly1155Arg	rs1274443278	missense variant	-	NC_000008.11:g.37841801G>A	TOPMed
ADGRA2	Q96PE1	p.Gly1157Arg	rs1310617659	missense variant	-	NC_000008.11:g.37841807G>A	gnomAD
ADGRA2	Q96PE1	p.Glu1158Lys	rs1193589254	missense variant	-	NC_000008.11:g.37841810G>A	TOPMed
ADGRA2	Q96PE1	p.Pro1159Leu	rs1323735168	missense variant	-	NC_000008.11:g.37841814C>T	gnomAD
ADGRA2	Q96PE1	p.Ala1162Val	rs1257884306	missense variant	-	NC_000008.11:g.37841823C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1162Glu	rs1257884306	missense variant	-	NC_000008.11:g.37841823C>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1162Gly	rs1257884306	missense variant	-	NC_000008.11:g.37841823C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1163Asp	rs1031241896	missense variant	-	NC_000008.11:g.37841826G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1165Gln	rs756140326	missense variant	-	NC_000008.11:g.37841832G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Leu1168Phe	rs1213444109	missense variant	-	NC_000008.11:g.37841840C>T	gnomAD
ADGRA2	Q96PE1	p.Ala1169Val	rs1055225965	missense variant	-	NC_000008.11:g.37841844C>T	TOPMed
ADGRA2	Q96PE1	p.Ala1169Thr	rs777414593	missense variant	-	NC_000008.11:g.37841843G>A	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala1169Asp	rs1055225965	missense variant	-	NC_000008.11:g.37841844C>A	TOPMed
ADGRA2	Q96PE1	p.His1170Tyr	rs749154139	missense variant	-	NC_000008.11:g.37841846C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1171Cys	rs770543480	missense variant	-	NC_000008.11:g.37841849C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Arg1171His	rs549085496	missense variant	-	NC_000008.11:g.37841850G>A	gnomAD
ADGRA2	Q96PE1	p.Asn1174Ser	rs1295008686	missense variant	-	NC_000008.11:g.37841859A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn1174Lys	rs1389747102	missense variant	-	NC_000008.11:g.37841860C>G	TOPMed
ADGRA2	Q96PE1	p.Val1176Met	rs1010651371	missense variant	-	NC_000008.11:g.37841864G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1176Leu	rs1010651371	missense variant	-	NC_000008.11:g.37841864G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.His1177Asn	rs745338333	missense variant	-	NC_000008.11:g.37841867C>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.His1178Tyr	rs1172386010	missense variant	-	NC_000008.11:g.37841870C>T	TOPMed
ADGRA2	Q96PE1	p.Arg1180Gly	rs145526357	missense variant	-	NC_000008.11:g.37841876C>G	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1181Gln	rs931037129	missense variant	-	NC_000008.11:g.37841880G>A	gnomAD
ADGRA2	Q96PE1	p.Ala1182Val	rs1234203209	missense variant	-	NC_000008.11:g.37841883C>T	gnomAD
ADGRA2	Q96PE1	p.His1183Arg	rs769265984	missense variant	-	NC_000008.11:g.37841886A>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1186Gln	rs1220082644	missense variant	-	NC_000008.11:g.37841895G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Lys1188Asn	rs1274100052	missense variant	-	NC_000008.11:g.37841902G>T	gnomAD
ADGRA2	Q96PE1	p.Lys1188Asn	rs1274100052	missense variant	-	NC_000008.11:g.37841902G>C	gnomAD
ADGRA2	Q96PE1	p.Lys1188Glu	rs999023591	missense variant	-	NC_000008.11:g.37841900A>G	TOPMed
ADGRA2	Q96PE1	p.Gly1189Ter	rs1442366259	stop gained	-	NC_000008.11:g.37841903G>T	gnomAD
ADGRA2	Q96PE1	p.His1190Gln	rs1208628336	missense variant	-	NC_000008.11:g.37841908C>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1192Val	rs762298535	missense variant	-	NC_000008.11:g.37841913C>T	ExAC
ADGRA2	Q96PE1	p.Ala1192Thr	rs1321007827	missense variant	-	NC_000008.11:g.37841912G>A	TOPMed
ADGRA2	Q96PE1	p.Gly1193Arg	rs1031943230	missense variant	-	NC_000008.11:g.37841915G>A	TOPMed
ADGRA2	Q96PE1	p.Glu1194Asp	rs1352663890	missense variant	-	NC_000008.11:g.37841920G>T	TOPMed
ADGRA2	Q96PE1	p.Glu1194Lys	rs1192548512	missense variant	-	NC_000008.11:g.37841918G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1195Thr	rs1260620230	missense variant	-	NC_000008.11:g.37841921G>A	gnomAD
ADGRA2	Q96PE1	p.Cys1196Tyr	rs75336000	missense variant	-	NC_000008.11:g.37841925G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1197Asp	rs1168289442	missense variant	-	NC_000008.11:g.37841928G>A	gnomAD
ADGRA2	Q96PE1	p.Lys1198Gln	rs998186089	missense variant	-	NC_000008.11:g.37841930A>C	TOPMed
ADGRA2	Q96PE1	p.Asn1199Ser	rs959394907	missense variant	-	NC_000008.11:g.37841934A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asn1199Ile	rs959394907	missense variant	-	NC_000008.11:g.37841934A>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu1201Val	rs1412745473	missense variant	-	NC_000008.11:g.37841939C>G	gnomAD
ADGRA2	Q96PE1	p.Leu1201Pro	rs1178133798	missense variant	-	NC_000008.11:g.37841940T>C	gnomAD
ADGRA2	Q96PE1	p.Lys1202Glu	rs1028767922	missense variant	-	NC_000008.11:g.37841942A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1207Asp	rs1361008534	missense variant	-	NC_000008.11:g.37841958G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1208Thr	rs1297600213	missense variant	-	NC_000008.11:g.37841960G>A	gnomAD
ADGRA2	Q96PE1	p.Ala1209Val	rs1271200028	missense variant	-	NC_000008.11:g.37841964C>T	gnomAD
ADGRA2	Q96PE1	p.Ala1209Thr	rs1402005064	missense variant	-	NC_000008.11:g.37841963G>A	gnomAD
ADGRA2	Q96PE1	p.Ala1211Thr	rs1344751252	missense variant	-	NC_000008.11:g.37841969G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1211Ser	rs1344751252	missense variant	-	NC_000008.11:g.37841969G>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1211Val	rs1218027910	missense variant	-	NC_000008.11:g.37841970C>T	gnomAD
ADGRA2	Q96PE1	p.Leu1212Pro	rs1281327698	missense variant	-	NC_000008.11:g.37841973T>C	gnomAD
ADGRA2	Q96PE1	p.Leu1214Pro	rs1260324781	missense variant	-	NC_000008.11:g.37841979T>C	gnomAD
ADGRA2	Q96PE1	p.Ser1217Arg	rs1245977628	missense variant	-	NC_000008.11:g.37841989C>A	gnomAD
ADGRA2	Q96PE1	p.Ser1217Thr	rs1193436564	missense variant	-	NC_000008.11:g.37841988G>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser1217Asn	rs1193436564	missense variant	-	NC_000008.11:g.37841988G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu1218Lys	rs1164384691	missense variant	-	NC_000008.11:g.37841990G>A	gnomAD
ADGRA2	Q96PE1	p.Glu1218Gly	rs1476900600	missense variant	-	NC_000008.11:g.37841991A>G	gnomAD
ADGRA2	Q96PE1	p.Glu1218Asp	rs1192901414	missense variant	-	NC_000008.11:g.37841992G>C	gnomAD
ADGRA2	Q96PE1	p.Ser1219Thr	rs1157391248	missense variant	-	NC_000008.11:g.37841994G>C	TOPMed
ADGRA2	Q96PE1	p.Gly1220Val	rs954100649	missense variant	-	NC_000008.11:g.37841997G>T	TOPMed
ADGRA2	Q96PE1	p.Gly1220Ser	rs1395633188	missense variant	-	NC_000008.11:g.37841996G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser1221Gly	rs1158125842	missense variant	-	NC_000008.11:g.37841999A>G	gnomAD
ADGRA2	Q96PE1	p.Ser1225Asn	rs1319195719	missense variant	-	NC_000008.11:g.37842012G>A	gnomAD
ADGRA2	Q96PE1	p.Ser1225Gly	rs1402730722	missense variant	-	NC_000008.11:g.37842011A>G	gnomAD
ADGRA2	Q96PE1	p.Pro1226Ser	rs1330936686	missense variant	-	NC_000008.11:g.37842014C>T	gnomAD
ADGRA2	Q96PE1	p.Asp1228His	rs909675567	missense variant	-	NC_000008.11:g.37842020G>C	TOPMed
ADGRA2	Q96PE1	p.Leu1231Arg	rs1276937759	missense variant	-	NC_000008.11:g.37842030T>G	gnomAD
ADGRA2	Q96PE1	p.Leu1231Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.37842030T>A	NCI-TCGA
ADGRA2	Q96PE1	p.Arg1235Cys	rs1239987752	missense variant	-	NC_000008.11:g.37842041C>T	gnomAD
ADGRA2	Q96PE1	p.Asn1236Asp	rs1283331251	missense variant	-	NC_000008.11:g.37842044A>G	gnomAD
ADGRA2	Q96PE1	p.Gly1239Ser	rs1288668318	missense variant	-	NC_000008.11:g.37842053G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gln1243Lys	rs1253320794	missense variant	-	NC_000008.11:g.37842065C>A	gnomAD
ADGRA2	Q96PE1	p.Gln1243Ter	rs1253320794	stop gained	-	NC_000008.11:g.37842065C>T	gnomAD
ADGRA2	Q96PE1	p.Gly1246Val	rs1248272933	missense variant	-	NC_000008.11:g.37842075G>T	TOPMed
ADGRA2	Q96PE1	p.Pro1248Ser	rs1176699256	missense variant	-	NC_000008.11:g.37842080C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Met1249Val	rs1471188065	missense variant	-	NC_000008.11:g.37842083A>G	gnomAD
ADGRA2	Q96PE1	p.Met1249Arg	rs1159170617	missense variant	-	NC_000008.11:g.37842084T>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu1250Phe	rs1390333693	missense variant	-	NC_000008.11:g.37842086C>T	gnomAD
ADGRA2	Q96PE1	p.Pro1252Leu	rs1328366056	missense variant	-	NC_000008.11:g.37842093C>T	gnomAD
ADGRA2	Q96PE1	p.Ser1253Tyr	rs1446777338	missense variant	-	NC_000008.11:g.37842096C>A	gnomAD
ADGRA2	Q96PE1	p.Gly1255Ser	rs1366749137	missense variant	-	NC_000008.11:g.37842101G>A	TOPMed
ADGRA2	Q96PE1	p.Gly1255Asp	rs1307664661	missense variant	-	NC_000008.11:g.37842102G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser1256Arg	rs1337063165	missense variant	-	NC_000008.11:g.37842106C>G	gnomAD
ADGRA2	Q96PE1	p.Asp1257Asn	rs1239160834	missense variant	-	NC_000008.11:g.37842107G>A	gnomAD
ADGRA2	Q96PE1	p.Ser1259Arg	rs561986158	missense variant	-	NC_000008.11:g.37842115C>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1260Thr	rs1229618971	missense variant	-	NC_000008.11:g.37842116G>A	gnomAD
ADGRA2	Q96PE1	p.Ala1261Val	rs939288027	missense variant	-	NC_000008.11:g.37842120C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Pro1262Gln	rs1457132209	missense variant	-	NC_000008.11:g.37842123C>A	gnomAD
ADGRA2	Q96PE1	p.Leu1263Pro	rs1196727304	missense variant	-	NC_000008.11:g.37842126T>C	gnomAD
ADGRA2	Q96PE1	p.Ser1264Phe	rs755980978	missense variant	-	NC_000008.11:g.37842129C>T	ExAC,gnomAD
ADGRA2	Q96PE1	p.Glu1265Lys	rs1054795133	missense variant	-	NC_000008.11:g.37842131G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu1265Val	rs1240096905	missense variant	-	NC_000008.11:g.37842132A>T	TOPMed
ADGRA2	Q96PE1	p.Ala1266Val	rs1438288788	missense variant	-	NC_000008.11:g.37842135C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1267Asp	rs1266325212	missense variant	-	NC_000008.11:g.37842138G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1267Ser	rs1043023169	missense variant	-	NC_000008.11:g.37842137G>A	gnomAD
ADGRA2	Q96PE1	p.Arg1268Gly	rs777802540	missense variant	-	NC_000008.11:g.37842140C>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Ala1269Val	rs1471967538	missense variant	-	NC_000008.11:g.37842144C>T	gnomAD
ADGRA2	Q96PE1	p.Gly1270Asp	rs1462697409	missense variant	-	NC_000008.11:g.37842147G>A	gnomAD
ADGRA2	Q96PE1	p.Gln1271Ter	rs904637013	stop gained	-	NC_000008.11:g.37842149C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gln1271Glu	rs904637013	missense variant	-	NC_000008.11:g.37842149C>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1273Cys	rs1419079314	missense variant	-	NC_000008.11:g.37842155C>T	gnomAD
ADGRA2	Q96PE1	p.Ala1275Pro	rs1465409987	missense variant	-	NC_000008.11:g.37842161G>C	gnomAD
ADGRA2	Q96PE1	p.Ser1276Gly	rs746259780	missense variant	-	NC_000008.11:g.37842164A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1277Cys	rs1471715487	missense variant	-	NC_000008.11:g.37842167C>T	gnomAD
ADGRA2	Q96PE1	p.Ser1279Thr	rs1031733832	missense variant	-	NC_000008.11:g.37842174G>C	gnomAD
ADGRA2	Q96PE1	p.Leu1280Pro	rs892295617	missense variant	-	NC_000008.11:g.37842177T>C	gnomAD
ADGRA2	Q96PE1	p.Gly1282Cys	rs1338175996	missense variant	-	NC_000008.11:g.37842182G>T	gnomAD
ADGRA2	Q96PE1	p.Gly1283Ala	rs546264591	missense variant	-	NC_000008.11:g.37842186G>C	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1283Val	rs546264591	missense variant	-	NC_000008.11:g.37842186G>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1283Arg	rs1364375251	missense variant	-	NC_000008.11:g.37842185G>C	TOPMed
ADGRA2	Q96PE1	p.Gly1283Asp	rs546264591	missense variant	-	NC_000008.11:g.37842186G>A	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1285Val	rs1259679995	missense variant	-	NC_000008.11:g.37842192C>T	gnomAD
ADGRA2	Q96PE1	p.Ala1285Thr	rs1216606024	missense variant	-	NC_000008.11:g.37842191G>A	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Glu1289Asp	rs1199795030	missense variant	-	NC_000008.11:g.37842205G>T	gnomAD
ADGRA2	Q96PE1	p.His1291Arg	rs1019574544	missense variant	-	NC_000008.11:g.37842210A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Arg1292Cys	rs998884057	missense variant	-	NC_000008.11:g.37842212C>T	TOPMed
ADGRA2	Q96PE1	p.Ser1294Trp	rs778483167	missense variant	-	NC_000008.11:g.37842219C>G	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ser1294Leu	rs778483167	missense variant	-	NC_000008.11:g.37842219C>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Tyr1295Ter	rs1028289312	stop gained	-	NC_000008.11:g.37842223C>A	TOPMed
ADGRA2	Q96PE1	p.Pro1296Gln	rs1480674242	missense variant	-	NC_000008.11:g.37842225C>A	TOPMed
ADGRA2	Q96PE1	p.Asn1298Asp	rs1375081784	missense variant	-	NC_000008.11:g.37842230A>G	gnomAD
ADGRA2	Q96PE1	p.Ala1299Val	rs1172498945	missense variant	-	NC_000008.11:g.37842234C>T	gnomAD
ADGRA2	Q96PE1	p.Ala1300Thr	rs779416720	missense variant	-	NC_000008.11:g.37842236G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1300Ser	rs779416720	missense variant	-	NC_000008.11:g.37842236G>T	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu1302Pro	rs1335723001	missense variant	-	NC_000008.11:g.37842243T>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1304Val	rs1416113763	missense variant	-	NC_000008.11:g.37842249G>T	gnomAD
ADGRA2	Q96PE1	p.Gly1308Glu	rs1397691411	missense variant	-	NC_000008.11:g.37842261G>A	gnomAD
ADGRA2	Q96PE1	p.Gly1308Arg	rs1324773504	missense variant	-	NC_000008.11:g.37842260G>A	TOPMed
ADGRA2	Q96PE1	p.Gly1308Ala	rs1397691411	missense variant	-	NC_000008.11:g.37842261G>C	gnomAD
ADGRA2	Q96PE1	p.Gly1309Ser	rs1285711053	missense variant	-	NC_000008.11:g.37842263G>A	TOPMed
ADGRA2	Q96PE1	p.Lys1310Gln	rs777214885	missense variant	-	NC_000008.11:g.37842266A>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Lys1310Glu	rs777214885	missense variant	-	NC_000008.11:g.37842266A>G	ExAC,gnomAD
ADGRA2	Q96PE1	p.Lys1310Arg	rs1232489516	missense variant	-	NC_000008.11:g.37842267A>G	gnomAD
ADGRA2	Q96PE1	p.Tyr1311Asp	rs1254146624	missense variant	-	NC_000008.11:g.37842269T>G	gnomAD
ADGRA2	Q96PE1	p.Asp1313Val	rs201432181	missense variant	-	NC_000008.11:g.37842276A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Asp1313His	rs748465793	missense variant	-	NC_000008.11:g.37842275G>C	ExAC,gnomAD
ADGRA2	Q96PE1	p.Thr1315Ile	rs548801136	missense variant	-	NC_000008.11:g.37842282C>T	1000Genomes,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Leu1316Pro	rs367842975	missense variant	-	NC_000008.11:g.37842285T>C	ESP,ExAC,gnomAD
ADGRA2	Q96PE1	p.Met1317Leu	rs1173737540	missense variant	-	NC_000008.11:g.37842287A>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Met1317Leu	rs1173737540	missense variant	-	NC_000008.11:g.37842287A>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Met1317Ile	rs1359339077	missense variant	-	NC_000008.11:g.37842289G>A	gnomAD
ADGRA2	Q96PE1	p.Gly1318Asp	rs1290239384	missense variant	-	NC_000008.11:g.37842291G>A	gnomAD
ADGRA2	Q96PE1	p.Gly1318Ser	rs150771131	missense variant	-	NC_000008.11:g.37842290G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Ala1319Thr	rs1386026966	missense variant	-	NC_000008.11:g.37842293G>A	gnomAD
ADGRA2	Q96PE1	p.Cys1326Tyr	rs1262739882	missense variant	-	NC_000008.11:g.37842315G>A	gnomAD
ADGRA2	Q96PE1	p.Lys1328Glu	rs1209621785	missense variant	-	NC_000008.11:g.37842320A>G	gnomAD
ADGRA2	Q96PE1	p.Thr1329Pro	rs1265643744	missense variant	-	NC_000008.11:g.37842323A>C	gnomAD
ADGRA2	Q96PE1	p.Gly1330Glu	rs757967284	missense variant	-	NC_000008.11:g.37842327G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Gly1330Arg	rs1194804047	missense variant	-	NC_000008.11:g.37842326G>A	gnomAD
ADGRA2	Q96PE1	p.Lys1333Gln	rs1440938968	missense variant	-	NC_000008.11:g.37842335A>C	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Lys1333Glu	rs1440938968	missense variant	-	NC_000008.11:g.37842335A>G	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Lys1333Asn	rs1481690075	missense variant	-	NC_000008.11:g.37842337G>T	TOPMed
ADGRA2	Q96PE1	p.Glu1335Val	rs1160589266	missense variant	-	NC_000008.11:g.37842342A>T	gnomAD
ADGRA2	Q96PE1	p.Glu1335Lys	rs779798627	missense variant	-	NC_000008.11:g.37842341G>A	ExAC,TOPMed,gnomAD
ADGRA2	Q96PE1	p.Thr1337Ile	rs1345447583	missense variant	-	NC_000008.11:g.37842348C>T	TOPMed,gnomAD
ADGRA2	Q96PE1	p.Val1338Ile	rs1265327308	missense variant	-	NC_000008.11:g.37842350G>A	TOPMed
KIF20B	Q96Q89	p.Glu2Asp	rs371111411	missense variant	-	NC_000010.11:g.89705300A>C	ESP,TOPMed
KIF20B	Q96Q89	p.Glu2Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89705298G>A	NCI-TCGA
KIF20B	Q96Q89	p.Ser3Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89705302C>G	NCI-TCGA
KIF20B	Q96Q89	p.Asn6Asp	rs768060728	missense variant	-	NC_000010.11:g.89705310A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln7Lys	rs776275732	missense variant	-	NC_000010.11:g.89705313C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Gly9Glu	rs1401157152	missense variant	-	NC_000010.11:g.89705320G>A	TOPMed
KIF20B	Q96Q89	p.Pro11Ser	rs531008769	missense variant	-	NC_000010.11:g.89705325C>T	gnomAD
KIF20B	Q96Q89	p.Arg12Gln	rs761585032	missense variant	-	NC_000010.11:g.89705329G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg12Gln	rs761585032	missense variant	-	NC_000010.11:g.89705329G>A	NCI-TCGA,NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Tyr15Ter	rs114316057	stop gained	-	NC_000010.11:g.89705339T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr15His	rs1437025874	missense variant	-	NC_000010.11:g.89705337T>C	TOPMed
KIF20B	Q96Q89	p.Tyr15Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89705337T>G	NCI-TCGA
KIF20B	Q96Q89	p.Val16Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89705341T>G	NCI-TCGA
KIF20B	Q96Q89	p.Phe17Ser	rs1167628361	missense variant	-	NC_000010.11:g.89705344T>C	TOPMed
KIF20B	Q96Q89	p.Ala19Val	rs774900148	missense variant	-	NC_000010.11:g.89705350C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp20Val	rs1335039056	missense variant	-	NC_000010.11:g.89705353A>T	gnomAD
KIF20B	Q96Q89	p.Ile22Asn	rs1360995928	missense variant	-	NC_000010.11:g.89705359T>A	gnomAD
KIF20B	Q96Q89	p.Ile22Met	COSM3441422	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89705360T>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ala23Ser	rs143432523	missense variant	-	NC_000010.11:g.89705361G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala23Thr	rs143432523	missense variant	-	NC_000010.11:g.89705361G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg24Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89705364A>G	NCI-TCGA
KIF20B	Q96Q89	p.Glu27Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.89705373G>T	NCI-TCGA
KIF20B	Q96Q89	p.Glu27Asp	rs753159710	missense variant	-	NC_000010.11:g.89705375A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp31His	rs370731821	missense variant	-	NC_000010.11:g.89705385G>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp31Gly	rs1194896120	missense variant	-	NC_000010.11:g.89705386A>G	gnomAD
KIF20B	Q96Q89	p.Asp31Asn	rs370731821	missense variant	-	NC_000010.11:g.89705385G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile33Val	rs757522974	missense variant	-	NC_000010.11:g.89705391A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys34Asn	rs374375791	missense variant	-	NC_000010.11:g.89705396G>C	ESP
KIF20B	Q96Q89	p.Asp36Gly	rs764984414	missense variant	-	NC_000010.11:g.89705401A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp36Tyr	rs1443767282	missense variant	-	NC_000010.11:g.89705400G>T	gnomAD
KIF20B	Q96Q89	p.His39Arg	rs148065279	missense variant	-	NC_000010.11:g.89705410A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His39Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89705411T>G	NCI-TCGA
KIF20B	Q96Q89	p.Glu40Lys	rs779980736	missense variant	-	NC_000010.11:g.89705412G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser42Cys	rs879431020	missense variant	-	NC_000010.11:g.89705419C>G	TOPMed
KIF20B	Q96Q89	p.Ser42Phe	COSM1968821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89705419C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser42Ala	rs1475266085	missense variant	-	NC_000010.11:g.89705418T>G	gnomAD
KIF20B	Q96Q89	p.Val44Phe	rs368331856	missense variant	-	NC_000010.11:g.89705424G>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala45Thr	rs1427592434	missense variant	-	NC_000010.11:g.89705427G>A	gnomAD
KIF20B	Q96Q89	p.Pro46Ser	rs780902590	missense variant	-	NC_000010.11:g.89705430C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Pro46Ser	rs780902590	missense variant	-	NC_000010.11:g.89705430C>T	NCI-TCGA
KIF20B	Q96Q89	p.Ala50Gly	rs1129777	missense variant	-	NC_000010.11:g.89709168C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala50Gly	rs1129777	missense variant	-	NC_000010.11:g.89709168C>G	UniProt,dbSNP
KIF20B	Q96Q89	p.Ala50Gly	VAR_030181	missense variant	-	NC_000010.11:g.89709168C>G	UniProt
KIF20B	Q96Q89	p.Ala50Ser	rs1381027300	missense variant	-	NC_000010.11:g.89709167G>T	gnomAD
KIF20B	Q96Q89	p.Asn51Ser	rs1056194785	missense variant	-	NC_000010.11:g.89709171A>G	TOPMed
KIF20B	Q96Q89	p.Asn51Tyr	rs1156898393	missense variant	-	NC_000010.11:g.89709170A>T	gnomAD
KIF20B	Q96Q89	p.Asn51Asp	rs1156898393	missense variant	-	NC_000010.11:g.89709170A>G	gnomAD
KIF20B	Q96Q89	p.Phe53Leu	rs778521871	missense variant	-	NC_000010.11:g.89709178C>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu54Lys	rs1323971498	missense variant	-	NC_000010.11:g.89709179G>A	gnomAD
KIF20B	Q96Q89	p.Glu54Val	rs947679379	missense variant	-	NC_000010.11:g.89709180A>T	-
KIF20B	Q96Q89	p.Glu54Lys	rs1323971498	missense variant	-	NC_000010.11:g.89709179G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Glu54Val	rs947679379	missense variant	-	NC_000010.11:g.89709180A>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser55Cys	rs1332545576	missense variant	-	NC_000010.11:g.89709183C>G	gnomAD
KIF20B	Q96Q89	p.Lys56Glu	rs758141800	missense variant	-	NC_000010.11:g.89709185A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys56Asn	COSM921299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89709187A>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Asp57Gly	rs766114784	missense variant	-	NC_000010.11:g.89709189A>G	ExAC,TOPMed
KIF20B	Q96Q89	p.Tyr58His	rs367726513	missense variant	-	NC_000010.11:g.89709191T>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu59Arg	rs1160673754	missense variant	-	NC_000010.11:g.89709195T>G	gnomAD
KIF20B	Q96Q89	p.Gln60Pro	rs375851858	missense variant	-	NC_000010.11:g.89709198A>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg64Gln	rs201280490	missense variant	-	NC_000010.11:g.89709210G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg64Gln	rs201280490	missense variant	-	NC_000010.11:g.89709210G>A	NCI-TCGA
KIF20B	Q96Q89	p.Pro67Ala	rs1283252329	missense variant	-	NC_000010.11:g.89709218C>G	gnomAD
KIF20B	Q96Q89	p.Glu72Gln	rs747721266	missense variant	-	NC_000010.11:g.89709233G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu74Ter	COSM5476965	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89709239G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Leu75Pro	rs755701011	missense variant	-	NC_000010.11:g.89709243T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu76Lys	rs777502341	missense variant	-	NC_000010.11:g.89709245G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser77Pro	rs140554027	missense variant	-	NC_000010.11:g.89709248T>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gly79Asp	rs1279975424	missense variant	-	NC_000010.11:g.89709346G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys80Tyr	rs755646052	missense variant	-	NC_000010.11:g.89709349G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Val81Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89709352T>C	NCI-TCGA
KIF20B	Q96Q89	p.His82Arg	rs369439648	missense variant	-	NC_000010.11:g.89709355A>G	ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.His82Asp	rs1395185860	missense variant	-	NC_000010.11:g.89709354C>G	gnomAD
KIF20B	Q96Q89	p.His82Pro	rs369439648	missense variant	-	NC_000010.11:g.89709355A>C	ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln87His	rs1314221873	missense variant	-	NC_000010.11:g.89709371G>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Val89Ile	rs1279246917	missense variant	-	NC_000010.11:g.89709375G>A	gnomAD
KIF20B	Q96Q89	p.Leu91Val	rs758962805	missense variant	-	NC_000010.11:g.89709381C>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu91Pro	rs201328071	missense variant	-	NC_000010.11:g.89709382T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys92Arg	rs756898969	missense variant	-	NC_000010.11:g.89709385A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu93Gly	rs200362702	missense variant	-	NC_000010.11:g.89709388A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln95Ter	rs1484655439	stop gained	-	NC_000010.11:g.89709393C>T	gnomAD
KIF20B	Q96Q89	p.Gln95Ter	rs1484655439	stop gained	-	NC_000010.11:g.89709393C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Cys96Arg	rs748681486	missense variant	-	NC_000010.11:g.89709396T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile97Val	rs199632456	missense variant	-	NC_000010.11:g.89709399A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg100Trp	rs773209778	missense variant	-	NC_000010.11:g.89709408C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg100Trp	rs773209778	missense variant	-	NC_000010.11:g.89709408C>T	NCI-TCGA,NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Arg100Leu	rs763235804	missense variant	-	NC_000010.11:g.89709409G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg100Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89709409G>A	NCI-TCGA
KIF20B	Q96Q89	p.Ser102Gly	rs1018194599	missense variant	-	NC_000010.11:g.89709414A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser102Arg	rs1018194599	missense variant	-	NC_000010.11:g.89709414A>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser105Gly	rs774649782	missense variant	-	NC_000010.11:g.89709423A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser105Asn	rs1299300012	missense variant	-	NC_000010.11:g.89709424G>A	gnomAD
KIF20B	Q96Q89	p.Ser106Pro	rs1213226504	missense variant	-	NC_000010.11:g.89709426T>C	gnomAD
KIF20B	Q96Q89	p.Ser106Leu	rs759189061	missense variant	-	NC_000010.11:g.89709427C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gly107Val	rs1436625710	missense variant	-	NC_000010.11:g.89709430G>T	gnomAD
KIF20B	Q96Q89	p.Met109Thr	rs1313070240	missense variant	-	NC_000010.11:g.89709436T>C	gnomAD
KIF20B	Q96Q89	p.Ala110Thr	rs767453897	missense variant	-	NC_000010.11:g.89709438G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln111Lys	rs752634082	missense variant	-	NC_000010.11:g.89709441C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys112Gln	COSM921302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89709444A>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Phe115Leu	rs1210117148	missense variant	-	NC_000010.11:g.89709453T>C	gnomAD
KIF20B	Q96Q89	p.Ser116Phe	rs376346565	missense variant	-	NC_000010.11:g.89709457C>T	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Ser116Tyr	rs376346565	missense variant	-	NC_000010.11:g.89709457C>A	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Lys117Thr	rs756920160	missense variant	-	NC_000010.11:g.89709460A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys117Glu	rs1038163377	missense variant	-	NC_000010.11:g.89709459A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys117Gln	rs1038163377	missense variant	-	NC_000010.11:g.89709459A>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys117Arg	rs756920160	missense variant	-	NC_000010.11:g.89709460A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gly120Asp	COSM921303	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89709934G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Pro121Ser	rs372714100	missense variant	-	NC_000010.11:g.89709936C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala122Gly	rs140764762	missense variant	-	NC_000010.11:g.89709940C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr123Ser	rs541129006	missense variant	-	NC_000010.11:g.89709942A>T	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Thr123Ala	rs541129006	missense variant	-	NC_000010.11:g.89709942A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Gln125Arg	rs771970019	missense variant	-	NC_000010.11:g.89709949A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys126Glu	rs1182948308	missense variant	-	NC_000010.11:g.89709951A>G	TOPMed
KIF20B	Q96Q89	p.Ile133Val	rs149777607	missense variant	-	NC_000010.11:g.89709972A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Met134Val	rs374626048	missense variant	-	NC_000010.11:g.89709975A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln135His	rs769714206	missense variant	-	NC_000010.11:g.89709980A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys138Arg	rs116079640	missense variant	-	NC_000010.11:g.89709988A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu140Phe	rs764831714	missense variant	-	NC_000010.11:g.89709993C>T	ExAC
KIF20B	Q96Q89	p.Leu140Pro	rs749990301	missense variant	-	NC_000010.11:g.89709994T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu141Ter	rs758091272	stop gained	-	NC_000010.11:g.89709997T>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu141Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89709998G>T	NCI-TCGA
KIF20B	Q96Q89	p.Lys142Glu	rs767867106	missense variant	-	NC_000010.11:g.89709999A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln144Arg	rs190543605	missense variant	-	NC_000010.11:g.89710006A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln144His	rs1447791865	missense variant	-	NC_000010.11:g.89710007G>C	gnomAD
KIF20B	Q96Q89	p.Ser145Asn	rs778078682	missense variant	-	NC_000010.11:g.89710009G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg146His	rs773327403	missense variant	-	NC_000010.11:g.89710012G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg146Cys	rs368664005	missense variant	-	NC_000010.11:g.89710011C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg146Cys	rs368664005	missense variant	-	NC_000010.11:g.89710011C>T	NCI-TCGA,NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Phe149Ser	rs942538562	missense variant	-	NC_000010.11:g.89710021T>C	TOPMed
KIF20B	Q96Q89	p.Thr150Ala	rs1168636776	missense variant	-	NC_000010.11:g.89710023A>G	TOPMed
KIF20B	Q96Q89	p.Tyr151Ter	rs376662889	stop gained	-	NC_000010.11:g.89710028C>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gly152Arg	rs372770283	missense variant	-	NC_000010.11:g.89710029G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gly152Glu	COSM921305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89710030G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Gly152Arg	rs372770283	missense variant	-	NC_000010.11:g.89710029G>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr154Ser	rs903288308	missense variant	-	NC_000010.11:g.89710036C>G	gnomAD
KIF20B	Q96Q89	p.Asn155His	rs746740786	missense variant	-	NC_000010.11:g.89710038A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys158Thr	COSM921306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89710048A>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Thr159HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89710046A>-	NCI-TCGA
KIF20B	Q96Q89	p.Tyr160Cys	rs1415218716	missense variant	-	NC_000010.11:g.89710054A>G	gnomAD
KIF20B	Q96Q89	p.Thr161Ile	rs776389826	missense variant	-	NC_000010.11:g.89710057C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Phe162Leu	rs200906639	missense variant	-	NC_000010.11:g.89710059T>C	1000Genomes
KIF20B	Q96Q89	p.Gly164Glu	rs1400441533	missense variant	-	NC_000010.11:g.89710961G>A	gnomAD
KIF20B	Q96Q89	p.Gly170Asp	rs1213559245	missense variant	-	NC_000010.11:g.89710979G>A	gnomAD
KIF20B	Q96Q89	p.Pro173Leu	rs948773833	missense variant	-	NC_000010.11:g.89710988C>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro173Arg	rs948773833	missense variant	-	NC_000010.11:g.89710988C>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg174Gln	rs770462070	missense variant	-	NC_000010.11:g.89710991G>A	ExAC,TOPMed
KIF20B	Q96Q89	p.Arg174Gln	rs770462070	missense variant	-	NC_000010.11:g.89710991G>A	NCI-TCGA,NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Arg174Ter	rs200997811	stop gained	-	NC_000010.11:g.89710990C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn177Ser	rs1208057468	missense variant	-	NC_000010.11:g.89711000A>G	gnomAD
KIF20B	Q96Q89	p.Asn177Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89710999A>G	NCI-TCGA
KIF20B	Q96Q89	p.Asn177Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89711000A>T	NCI-TCGA
KIF20B	Q96Q89	p.Phe180Leu	rs759285059	missense variant	-	NC_000010.11:g.89711008T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp181Ala	rs1164042783	missense variant	-	NC_000010.11:g.89711012A>C	TOPMed
KIF20B	Q96Q89	p.Leu183Pro	rs1195856719	missense variant	-	NC_000010.11:g.89711018T>C	gnomAD
KIF20B	Q96Q89	p.Gln184Pro	rs1240652767	missense variant	-	NC_000010.11:g.89711021A>C	gnomAD
KIF20B	Q96Q89	p.Glu185Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89711023G>A	NCI-TCGA
KIF20B	Q96Q89	p.Leu187Pro	rs1397005058	missense variant	-	NC_000010.11:g.89711030T>C	gnomAD
KIF20B	Q96Q89	p.Tyr188Cys	rs1422014586	missense variant	-	NC_000010.11:g.89711033A>G	TOPMed
KIF20B	Q96Q89	p.Thr189Ala	rs764335006	missense variant	-	NC_000010.11:g.89711035A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys194Glu	rs1374837078	missense variant	-	NC_000010.11:g.89711050A>G	gnomAD
KIF20B	Q96Q89	p.His196Arg	rs1320050810	missense variant	-	NC_000010.11:g.89711057A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.His196Leu	rs1320050810	missense variant	-	NC_000010.11:g.89711057A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg197Ser	rs376008434	missense variant	-	NC_000010.11:g.89711061A>T	ESP,TOPMed
KIF20B	Q96Q89	p.Arg197Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89711060G>A	NCI-TCGA
KIF20B	Q96Q89	p.Tyr201His	rs148503567	missense variant	-	NC_000010.11:g.89711071T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr201Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89711071T>A	NCI-TCGA
KIF20B	Q96Q89	p.Leu202Ser	rs758511172	missense variant	-	NC_000010.11:g.89711075T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu202Phe	rs1231515805	missense variant	-	NC_000010.11:g.89711076A>C	gnomAD
KIF20B	Q96Q89	p.Arg203Trp	rs1048057	missense variant	-	NC_000010.11:g.89711077A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser205Leu	rs1292979738	missense variant	-	NC_000010.11:g.89711084C>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser206Ter	rs1327770259	stop gained	-	NC_000010.11:g.89711087C>A	gnomAD
KIF20B	Q96Q89	p.Ser206Ala	rs1207349056	missense variant	-	NC_000010.11:g.89711086T>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser206Pro	rs1207349056	missense variant	-	NC_000010.11:g.89711086T>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu209Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89711095G>C	NCI-TCGA
KIF20B	Q96Q89	p.Lys210Arg	rs755264224	missense variant	-	NC_000010.11:g.89711099A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu211Ter	COSM921307	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89711101G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ala214Thr	rs780841689	missense variant	-	NC_000010.11:g.89711110G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser215Asn	rs199753491	missense variant	-	NC_000010.11:g.89711114G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser215Gly	rs1255185936	missense variant	-	NC_000010.11:g.89711113A>G	gnomAD
KIF20B	Q96Q89	p.Lys216Arg	rs534581065	missense variant	-	NC_000010.11:g.89711117A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Ser217Asn	rs749248822	missense variant	-	NC_000010.11:g.89711120G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu220Val	rs1382653346	missense variant	-	NC_000010.11:g.89711128C>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg221Trp	rs369964051	missense variant	-	NC_000010.11:g.89711131C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg221Gln	rs1326317707	missense variant	-	NC_000010.11:g.89711132G>A	gnomAD
KIF20B	Q96Q89	p.Gln222Arg	rs759107250	missense variant	-	NC_000010.11:g.89711135A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile223Val	rs1009129144	missense variant	-	NC_000010.11:g.89711137A>G	gnomAD
KIF20B	Q96Q89	p.Ile223Thr	rs775018455	missense variant	-	NC_000010.11:g.89711138T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile223Asn	rs775018455	missense variant	-	NC_000010.11:g.89711138T>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Val228Gly	rs770921849	missense variant	-	NC_000010.11:g.89714054T>G	ExAC,gnomAD
KIF20B	Q96Q89	p.His229Leu	rs778382667	missense variant	-	NC_000010.11:g.89714057A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His229Arg	rs778382667	missense variant	-	NC_000010.11:g.89714057A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His229Asp	rs1333089782	missense variant	-	NC_000010.11:g.89714056C>G	gnomAD
KIF20B	Q96Q89	p.Asn230Ser	rs771486548	missense variant	-	NC_000010.11:g.89714060A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp231Gly	rs775166996	missense variant	-	NC_000010.11:g.89714063A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser232Cys	rs201672657	missense variant	-	NC_000010.11:g.89714065A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr235Ile	rs770258775	missense variant	-	NC_000010.11:g.89714075C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser239Cys	rs964891843	missense variant	-	NC_000010.11:g.89714957A>T	TOPMed
KIF20B	Q96Q89	p.Ser239Asn	rs367738722	missense variant	-	NC_000010.11:g.89714958G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser239Gly	rs964891843	missense variant	-	NC_000010.11:g.89714957A>G	TOPMed
KIF20B	Q96Q89	p.Ser239Ile	rs367738722	missense variant	-	NC_000010.11:g.89714958G>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn242Lys	rs760876341	missense variant	-	NC_000010.11:g.89714968C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser243Pro	rs1261121084	missense variant	-	NC_000010.11:g.89714969T>C	gnomAD
KIF20B	Q96Q89	p.Leu244Phe	rs764245271	missense variant	-	NC_000010.11:g.89714974G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu244Ser	rs1218020735	missense variant	-	NC_000010.11:g.89714973T>C	TOPMed
KIF20B	Q96Q89	p.Asn245Thr	rs754063164	missense variant	-	NC_000010.11:g.89714976A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Phe249Cys	rs1277782575	missense variant	-	NC_000010.11:g.89714988T>G	TOPMed
KIF20B	Q96Q89	p.Glu250Gly	rs1454442018	missense variant	-	NC_000010.11:g.89714991A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu250Asp	rs764963927	missense variant	-	NC_000010.11:g.89714992A>C	ExAC
KIF20B	Q96Q89	p.Glu251Gly	rs750351064	missense variant	-	NC_000010.11:g.89714994A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu251Lys	rs182944047	missense variant	-	NC_000010.11:g.89714993G>A	1000Genomes
KIF20B	Q96Q89	p.Ser252Pro	rs1342476150	missense variant	-	NC_000010.11:g.89714996T>C	TOPMed
KIF20B	Q96Q89	p.Ile253Val	rs964294773	missense variant	-	NC_000010.11:g.89714999A>G	TOPMed
KIF20B	Q96Q89	p.Ile253Met	rs375843991	missense variant	-	NC_000010.11:g.89715001A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp255Gly	rs188045870	missense variant	-	NC_000010.11:g.89715006A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Gln258Glu	rs1288643331	missense variant	-	NC_000010.11:g.89715014C>G	gnomAD
KIF20B	Q96Q89	p.Ala259Val	rs1395581811	missense variant	-	NC_000010.11:g.89715018C>T	gnomAD
KIF20B	Q96Q89	p.Asn260Tyr	rs1414798721	missense variant	-	NC_000010.11:g.89715020A>T	TOPMed
KIF20B	Q96Q89	p.Asn260Ser	rs1399140161	missense variant	-	NC_000010.11:g.89715021A>G	TOPMed
KIF20B	Q96Q89	p.Asn260Lys	rs754547001	missense variant	-	NC_000010.11:g.89715022C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu261Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89715025G>T	NCI-TCGA
KIF20B	Q96Q89	p.Asn262Ser	rs747827642	missense variant	-	NC_000010.11:g.89715027A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn265Ser	rs1315428577	missense variant	-	NC_000010.11:g.89715036A>G	gnomAD
KIF20B	Q96Q89	p.Ile267Val	rs377632658	missense variant	-	NC_000010.11:g.89715041A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys268Arg	rs779189217	missense variant	-	NC_000010.11:g.89715045A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys268Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89715045A>C	NCI-TCGA
KIF20B	Q96Q89	p.Lys268Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89715046A>T	NCI-TCGA
KIF20B	Q96Q89	p.Val271Leu	rs746383366	missense variant	-	NC_000010.11:g.89715053G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val271Met	rs746383366	missense variant	-	NC_000010.11:g.89715053G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Phe275Leu	COSM3807947	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89715067C>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Phe275Tyr	rs776079423	missense variant	-	NC_000010.11:g.89715066T>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Phe275Ser	rs776079423	missense variant	-	NC_000010.11:g.89715066T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Phe276Val	rs201019984	missense variant	-	NC_000010.11:g.89715068T>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr279Cys	rs768752700	missense variant	-	NC_000010.11:g.89715078A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn280Ser	rs776785358	missense variant	-	NC_000010.11:g.89715081A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile283Phe	rs1467670043	missense variant	-	NC_000010.11:g.89715089A>T	gnomAD
KIF20B	Q96Q89	p.Tyr284Ter	rs200892725	stop gained	-	NC_000010.11:g.89715094T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr284Cys	rs765046922	missense variant	-	NC_000010.11:g.89715093A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val288Ile	rs766167617	missense variant	-	NC_000010.11:g.89715104G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Val288Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89715105T>C	NCI-TCGA
KIF20B	Q96Q89	p.Lys293Glu	rs754491953	missense variant	-	NC_000010.11:g.89715119A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln295Arg	rs1324093442	missense variant	-	NC_000010.11:g.89715126A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys296Gln	rs1393985414	missense variant	-	NC_000010.11:g.89715128A>C	gnomAD
KIF20B	Q96Q89	p.Lys298Arg	COSM4915728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89715135A>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Met299Leu	rs1443088696	missense variant	-	NC_000010.11:g.89715137A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Met299Val	rs1443088696	missense variant	-	NC_000010.11:g.89715137A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg301His	rs755790468	missense variant	-	NC_000010.11:g.89715144G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg301Cys	rs138800578	missense variant	-	NC_000010.11:g.89715143C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg301Leu	rs755790468	missense variant	-	NC_000010.11:g.89715144G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser303Phe	COSM3441426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89715150C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Val306Leu	rs372546647	missense variant	-	NC_000010.11:g.89715158G>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val306Ile	rs372546647	missense variant	-	NC_000010.11:g.89715158G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys307Arg	rs1234871077	missense variant	-	NC_000010.11:g.89715162A>G	gnomAD
KIF20B	Q96Q89	p.Tyr309Cys	rs375586078	missense variant	-	NC_000010.11:g.89715168A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile312Val	rs1163530893	missense variant	-	NC_000010.11:g.89715176A>G	TOPMed
KIF20B	Q96Q89	p.Asp314Val	rs758639872	missense variant	-	NC_000010.11:g.89716436A>T	ExAC
KIF20B	Q96Q89	p.Asp314Glu	rs1475875082	missense variant	-	NC_000010.11:g.89716437T>A	gnomAD
KIF20B	Q96Q89	p.Leu315Pro	COSM466065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89716439T>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Leu315Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89716438C>G	NCI-TCGA
KIF20B	Q96Q89	p.Gln316Arg	rs1317197078	missense variant	-	NC_000010.11:g.89716442A>G	TOPMed
KIF20B	Q96Q89	p.Gln316Ter	rs967139129	stop gained	-	NC_000010.11:g.89716441C>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Trp317Cys	rs1174324802	missense variant	-	NC_000010.11:g.89716446G>T	gnomAD
KIF20B	Q96Q89	p.Trp317Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89716446G>C	NCI-TCGA
KIF20B	Q96Q89	p.Ile318Ser	rs747481872	missense variant	-	NC_000010.11:g.89716448T>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln319Ter	rs1305381289	stop gained	-	NC_000010.11:g.89716450C>T	gnomAD
KIF20B	Q96Q89	p.Ser323Cys	rs755542197	missense variant	-	NC_000010.11:g.89716463C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser323Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89716463C>T	NCI-TCGA
KIF20B	Q96Q89	p.Glu325Lys	rs781231658	missense variant	-	NC_000010.11:g.89716468G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Tyr327Cys	rs1431052490	missense variant	-	NC_000010.11:g.89716475A>G	gnomAD
KIF20B	Q96Q89	p.Tyr327Ter	rs1331651224	stop gained	-	NC_000010.11:g.89716476T>A	gnomAD
KIF20B	Q96Q89	p.Arg328Ile	COSM921308	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89716478G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Arg328Lys	rs1346863495	missense variant	-	NC_000010.11:g.89716478G>A	TOPMed
KIF20B	Q96Q89	p.Arg328Gly	rs748115970	missense variant	-	NC_000010.11:g.89716477A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu329Pro	rs769919021	missense variant	-	NC_000010.11:g.89716481T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile334Met	COSM6067294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89716497A>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.His336Gln	rs1406165606	missense variant	-	NC_000010.11:g.89716503C>A	TOPMed
KIF20B	Q96Q89	p.Ser338Asn	rs367763475	missense variant	-	NC_000010.11:g.89716508G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys343Asn	rs1455639607	missense variant	-	NC_000010.11:g.89716524A>T	TOPMed
KIF20B	Q96Q89	p.Asn346Lys	rs767505076	missense variant	-	NC_000010.11:g.89716533T>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser348Cys	rs377232644	missense variant	-	NC_000010.11:g.89716538C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser349Asn	rs1194343108	missense variant	-	NC_000010.11:g.89716541G>A	gnomAD
KIF20B	Q96Q89	p.Ser351Thr	rs760064623	missense variant	-	NC_000010.11:g.89716547G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His352Arg	rs573176470	missense variant	-	NC_000010.11:g.89717426A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His352Pro	rs573176470	missense variant	-	NC_000010.11:g.89717426A>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser353Thr	rs760714022	missense variant	-	NC_000010.11:g.89717429G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser353Asn	rs760714022	missense variant	-	NC_000010.11:g.89717429G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile354Val	rs763478746	missense variant	-	NC_000010.11:g.89717431A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr356Ala	rs776271223	missense variant	-	NC_000010.11:g.89717437A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys358Arg	rs1293745676	missense variant	-	NC_000010.11:g.89717444A>G	TOPMed
KIF20B	Q96Q89	p.Leu360Ter	rs1222003535	stop gained	-	NC_000010.11:g.89717450T>G	TOPMed
KIF20B	Q96Q89	p.Gln361Arg	rs1316012058	missense variant	-	NC_000010.11:g.89717453A>G	TOPMed
KIF20B	Q96Q89	p.Gln361His	rs764809501	missense variant	-	NC_000010.11:g.89717454G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln361AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89717451_89717452AC>-	NCI-TCGA
KIF20B	Q96Q89	p.Asp364Ala	rs1281742674	missense variant	-	NC_000010.11:g.89717462A>C	TOPMed
KIF20B	Q96Q89	p.Asp364Asn	rs1275337093	missense variant	-	NC_000010.11:g.89717461G>A	gnomAD
KIF20B	Q96Q89	p.Glu366Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89717467G>A	NCI-TCGA
KIF20B	Q96Q89	p.Ser368Phe	rs555767778	missense variant	-	NC_000010.11:g.89717474C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser368Ala	rs1438344995	missense variant	-	NC_000010.11:g.89717473T>G	gnomAD
KIF20B	Q96Q89	p.Ser368Cys	rs555767778	missense variant	-	NC_000010.11:g.89717474C>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg369His	rs150890799	missense variant	-	NC_000010.11:g.89717477G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg369Cys	rs767920353	missense variant	-	NC_000010.11:g.89717476C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile371Thr	COSM3441428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89717483T>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Arg372Ter	rs371676289	stop gained	-	NC_000010.11:g.89717485C>T	ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg372Gln	rs756715290	missense variant	-	NC_000010.11:g.89717486G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val373Phe	rs777705827	missense variant	-	NC_000010.11:g.89717488G>T	ExAC
KIF20B	Q96Q89	p.Ser374Thr	rs1412877109	missense variant	-	NC_000010.11:g.89717492G>C	TOPMed
KIF20B	Q96Q89	p.Glu375Lys	rs1162142113	missense variant	-	NC_000010.11:g.89717494G>A	gnomAD
KIF20B	Q96Q89	p.Ser377Thr	rs140162687	missense variant	-	NC_000010.11:g.89717580T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys379Ser	rs1427783864	missense variant	-	NC_000010.11:g.89717586T>A	TOPMed
KIF20B	Q96Q89	p.Ala382Val	rs1465110570	missense variant	-	NC_000010.11:g.89717596C>T	TOPMed
KIF20B	Q96Q89	p.Ala382Thr	rs1188037095	missense variant	-	NC_000010.11:g.89717595G>A	TOPMed
KIF20B	Q96Q89	p.Glu385Lys	rs1400457473	missense variant	-	NC_000010.11:g.89717604G>A	gnomAD
KIF20B	Q96Q89	p.Arg386Gln	rs767771862	missense variant	-	NC_000010.11:g.89717608G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg386Ter	rs762636055	stop gained	-	NC_000010.11:g.89717607C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr387Ser	rs753166649	missense variant	-	NC_000010.11:g.89717611C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Met388Thr	rs1462275798	missense variant	-	NC_000010.11:g.89717614T>C	TOPMed
KIF20B	Q96Q89	p.Lys389Asn	rs150319905	missense variant	-	NC_000010.11:g.89717618G>T	1000Genomes,ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr390Ala	rs1307413444	missense variant	-	NC_000010.11:g.89717619A>G	TOPMed
KIF20B	Q96Q89	p.Thr390Ile	rs1226361268	missense variant	-	NC_000010.11:g.89717620C>T	gnomAD
KIF20B	Q96Q89	p.Glu393Val	rs1296883429	missense variant	-	NC_000010.11:g.89717629A>T	gnomAD
KIF20B	Q96Q89	p.Gly394Asp	rs760964846	missense variant	-	NC_000010.11:g.89717632G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Gly394Arg	rs1341383895	missense variant	-	NC_000010.11:g.89717631G>C	gnomAD
KIF20B	Q96Q89	p.Gly394Ser	rs1341383895	missense variant	-	NC_000010.11:g.89717631G>A	gnomAD
KIF20B	Q96Q89	p.Arg396Lys	rs1282240827	missense variant	-	NC_000010.11:g.89717638G>A	gnomAD
KIF20B	Q96Q89	p.Leu397Ile	rs374218650	missense variant	-	NC_000010.11:g.89717640T>A	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Glu399Lys	rs754334159	missense variant	-	NC_000010.11:g.89717646G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr400Ala	rs1429927407	missense variant	-	NC_000010.11:g.89717649A>G	gnomAD
KIF20B	Q96Q89	p.Thr400Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89717650C>T	NCI-TCGA
KIF20B	Q96Q89	p.Asn402Ser	rs1186131810	missense variant	-	NC_000010.11:g.89717656A>G	gnomAD
KIF20B	Q96Q89	p.Asn404Ile	rs1455105434	missense variant	-	NC_000010.11:g.89717662A>T	gnomAD
KIF20B	Q96Q89	p.Asn404Tyr	rs372350190	missense variant	-	NC_000010.11:g.89717661A>T	ESP,ExAC,TOPMed
KIF20B	Q96Q89	p.Ser406Cys	rs1465903356	missense variant	-	NC_000010.11:g.89717668C>G	gnomAD
KIF20B	Q96Q89	p.Cys413Tyr	rs758759265	missense variant	-	NC_000010.11:g.89717689G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Cys413Arg	rs1366329188	missense variant	-	NC_000010.11:g.89717688T>C	TOPMed
KIF20B	Q96Q89	p.Val416Ile	rs149456198	missense variant	-	NC_000010.11:g.89717697G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val416Ile	rs149456198	missense variant	-	NC_000010.11:g.89717697G>A	NCI-TCGA
KIF20B	Q96Q89	p.Leu417Phe	rs1310356821	missense variant	-	NC_000010.11:g.89717702G>T	gnomAD
KIF20B	Q96Q89	p.Ser420Gly	rs139360783	missense variant	-	NC_000010.11:g.89717709A>G	1000Genomes,ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Ser420Asn	rs548202480	missense variant	-	NC_000010.11:g.89717710G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys422Glu	rs1246918973	missense variant	-	NC_000010.11:g.89717715A>G	gnomAD
KIF20B	Q96Q89	p.Ser423Ala	rs1303499097	missense variant	-	NC_000010.11:g.89717718T>G	TOPMed
KIF20B	Q96Q89	p.Lys424Arg	rs369009574	missense variant	-	NC_000010.11:g.89717722A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys424Glu	rs769265565	missense variant	-	NC_000010.11:g.89717721A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln426Ter	rs1287410937	stop gained	-	NC_000010.11:g.89718714C>T	gnomAD
KIF20B	Q96Q89	p.Gln427His	rs1272917739	missense variant	-	NC_000010.11:g.89718719G>C	TOPMed
KIF20B	Q96Q89	p.His428Asp	rs770380331	missense variant	-	NC_000010.11:g.89718720C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Val429Met	rs946529893	missense variant	-	NC_000010.11:g.89718723G>A	TOPMed
KIF20B	Q96Q89	p.Arg432Gln	rs769035292	missense variant	-	NC_000010.11:g.89718733G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg432Trp	rs745557342	missense variant	-	NC_000010.11:g.89718732C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu433Gly	rs777201675	missense variant	-	NC_000010.11:g.89718736A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser434Gly	rs1381375117	missense variant	-	NC_000010.11:g.89718738A>G	TOPMed
KIF20B	Q96Q89	p.His438Arg	rs369346911	missense variant	-	NC_000010.11:g.89718751A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His438Tyr	rs765780636	missense variant	-	NC_000010.11:g.89718750C>T	ExAC
KIF20B	Q96Q89	p.Tyr439Cys	rs553169925	missense variant	-	NC_000010.11:g.89718754A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Gln441His	rs143205873	missense variant	-	NC_000010.11:g.89718761A>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Phe444LeuPheSerTerUnk	COSM4695992	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89718764T>-	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Asn445Asp	rs755224380	missense variant	-	NC_000010.11:g.89718771A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn445Ter	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89718763_89718764insT	NCI-TCGA
KIF20B	Q96Q89	p.Ile450Leu	rs940553981	missense variant	-	NC_000010.11:g.89718786A>C	TOPMed
KIF20B	Q96Q89	p.Ile450Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89718786A>G	NCI-TCGA
KIF20B	Q96Q89	p.Cys451Tyr	rs1372331213	missense variant	-	NC_000010.11:g.89718790G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile453Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89718796T>C	NCI-TCGA
KIF20B	Q96Q89	p.Asn455Ser	rs1307205397	missense variant	-	NC_000010.11:g.89718802A>G	gnomAD
KIF20B	Q96Q89	p.Ile456Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89718804A>G	NCI-TCGA
KIF20B	Q96Q89	p.Tyr460Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89718817A>G	NCI-TCGA
KIF20B	Q96Q89	p.Tyr463Cys	rs770205047	missense variant	-	NC_000010.11:g.89718826A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp464Asn	rs1377972859	missense variant	-	NC_000010.11:g.89718828G>A	gnomAD
KIF20B	Q96Q89	p.Thr466Ile	rs1050271409	missense variant	-	NC_000010.11:g.89718835C>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn468Ser	rs1340679367	missense variant	-	NC_000010.11:g.89718841A>G	gnomAD
KIF20B	Q96Q89	p.Val469Ala	rs756771073	missense variant	-	NC_000010.11:g.89718844T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser473Pro	rs377662650	missense variant	-	NC_000010.11:g.89718855T>C	ESP,TOPMed
KIF20B	Q96Q89	p.Ala474Thr	rs1050818241	missense variant	-	NC_000010.11:g.89718858G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile475Val	rs371014201	missense variant	-	NC_000010.11:g.89718861A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala476Val	rs1237184251	missense variant	-	NC_000010.11:g.89718865C>T	gnomAD
KIF20B	Q96Q89	p.Gln477Arg	rs1486276465	missense variant	-	NC_000010.11:g.89718868A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys480Ser	rs141485845	missense variant	-	NC_000010.11:g.89719423G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys480Tyr	rs141485845	missense variant	-	NC_000010.11:g.89719423G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys480Arg	COSM921309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89719422T>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Pro482Arg	rs778469833	missense variant	-	NC_000010.11:g.89719429C>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro482Gln	rs778469833	missense variant	-	NC_000010.11:g.89719429C>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp483Tyr	rs371696680	missense variant	-	NC_000010.11:g.89719431G>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr484Ser	rs147397224	missense variant	-	NC_000010.11:g.89719435C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr484Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89719434A>T	NCI-TCGA
KIF20B	Q96Q89	p.Asn486His	rs1056602407	missense variant	-	NC_000010.11:g.89719440A>C	TOPMed
KIF20B	Q96Q89	p.Ser488Phe	rs375018458	missense variant	-	NC_000010.11:g.89719447C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser488Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89719447C>G	NCI-TCGA
KIF20B	Q96Q89	p.Glu490Asp	rs17484219	missense variant	-	NC_000010.11:g.89719454G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu490Asp	rs17484219	missense variant	-	NC_000010.11:g.89719454G>T	UniProt,dbSNP
KIF20B	Q96Q89	p.Glu490Asp	VAR_030182	missense variant	-	NC_000010.11:g.89719454G>T	UniProt
KIF20B	Q96Q89	p.Phe493Ser	rs1230598592	missense variant	-	NC_000010.11:g.89719462T>C	gnomAD
KIF20B	Q96Q89	p.Gly494Val	COSM6067292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89719465G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Val496Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89719471T>C	NCI-TCGA
KIF20B	Q96Q89	p.Lys497Arg	rs548120859	missense variant	-	NC_000010.11:g.89719474A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys497Ile	rs548120859	missense variant	-	NC_000010.11:g.89719474A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser498Pro	rs1291468732	missense variant	-	NC_000010.11:g.89719476T>C	TOPMed
KIF20B	Q96Q89	p.Gln500Glu	rs757053340	missense variant	-	NC_000010.11:g.89719482C>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp501Tyr	rs1214403238	missense variant	-	NC_000010.11:g.89719485G>T	gnomAD
KIF20B	Q96Q89	p.Val502Ile	rs1327823453	missense variant	-	NC_000010.11:g.89719488G>A	TOPMed
KIF20B	Q96Q89	p.Asp505His	rs1227033333	missense variant	-	NC_000010.11:g.89719497G>C	TOPMed
KIF20B	Q96Q89	p.Asp505Tyr	COSM921310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89719497G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser506Gly	rs958119693	missense variant	-	NC_000010.11:g.89719500A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser506Thr	rs775671805	missense variant	-	NC_000010.11:g.89719501G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser506Asn	rs775671805	missense variant	-	NC_000010.11:g.89719501G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser506Ter	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89719500_89719501AG>-	NCI-TCGA
KIF20B	Q96Q89	p.Asn509Lys	rs141486158	missense variant	-	NC_000010.11:g.89719511C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys511Glu	rs150845034	missense variant	-	NC_000010.11:g.89719515A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys511Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89719517A>C	NCI-TCGA
KIF20B	Q96Q89	p.Asn514Ser	rs765013645	missense variant	-	NC_000010.11:g.89719525A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn514His	rs761678395	missense variant	-	NC_000010.11:g.89719524A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn514Asp	rs761678395	missense variant	-	NC_000010.11:g.89719524A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys516Arg	rs115052864	missense variant	-	NC_000010.11:g.89719531A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala518Val	rs1444964039	missense variant	-	NC_000010.11:g.89719537C>T	gnomAD
KIF20B	Q96Q89	p.Ile520Thr	rs1323535396	missense variant	-	NC_000010.11:g.89719543T>C	gnomAD
KIF20B	Q96Q89	p.Ile520Val	rs757932251	missense variant	-	NC_000010.11:g.89719542A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile520Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89719542A>C	NCI-TCGA
KIF20B	Q96Q89	p.Trp522Cys	rs751225494	missense variant	-	NC_000010.11:g.89719550G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn524Asp	rs1286775074	missense variant	-	NC_000010.11:g.89719554A>G	gnomAD
KIF20B	Q96Q89	p.Ser525Asn	rs780913616	missense variant	-	NC_000010.11:g.89719558G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu526Pro	rs535352183	missense variant	-	NC_000010.11:g.89719561T>C	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Leu526Arg	rs535352183	missense variant	-	NC_000010.11:g.89719561T>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Glu527Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.89719563G>T	NCI-TCGA
KIF20B	Q96Q89	p.Met530Ile	rs746427013	missense variant	-	NC_000010.11:g.89719574G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Met530Leu	rs779240069	missense variant	-	NC_000010.11:g.89719572A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp532Tyr	rs1483341788	missense variant	-	NC_000010.11:g.89719578G>T	gnomAD
KIF20B	Q96Q89	p.Glu533Lys	rs775616820	missense variant	-	NC_000010.11:g.89719581G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu538Gln	rs747221522	missense variant	-	NC_000010.11:g.89719596G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ala542Thr	rs776914048	missense variant	-	NC_000010.11:g.89719608G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu544Lys	COSM921311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89719614G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Thr545Ile	rs1407671391	missense variant	-	NC_000010.11:g.89719618C>T	gnomAD
KIF20B	Q96Q89	p.Gln546Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.89719620C>T	NCI-TCGA
KIF20B	Q96Q89	p.Asn547Ile	rs761472099	missense variant	-	NC_000010.11:g.89719624A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Val548Glu	rs765098083	missense variant	-	NC_000010.11:g.89719627T>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Val548Ala	rs765098083	missense variant	-	NC_000010.11:g.89719627T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr550Ser	rs773001312	missense variant	-	NC_000010.11:g.89719633C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys551Arg	rs1219026345	missense variant	-	NC_000010.11:g.89719636A>G	TOPMed
KIF20B	Q96Q89	p.Lys551Glu	rs146154520	missense variant	-	NC_000010.11:g.89719635A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu552Phe	rs1276846309	missense variant	-	NC_000010.11:g.89719638C>T	TOPMed
KIF20B	Q96Q89	p.Leu553Arg	rs140167608	missense variant	-	NC_000010.11:g.89719642T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu553Pro	rs140167608	missense variant	-	NC_000010.11:g.89719642T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp554Glu	rs1338918540	missense variant	-	NC_000010.11:g.89719646T>G	gnomAD
KIF20B	Q96Q89	p.Asp556Glu	rs1244244914	missense variant	-	NC_000010.11:g.89719652T>A	gnomAD
KIF20B	Q96Q89	p.Asp558Gly	rs373446473	missense variant	-	NC_000010.11:g.89719657A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp558Val	rs373446473	missense variant	-	NC_000010.11:g.89719657A>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp558Tyr	rs1364636200	missense variant	-	NC_000010.11:g.89719656G>T	TOPMed
KIF20B	Q96Q89	p.Lys559Glu	rs941361816	missense variant	-	NC_000010.11:g.89719659A>G	TOPMed
KIF20B	Q96Q89	p.Leu561Val	rs1175224001	missense variant	-	NC_000010.11:g.89719665T>G	TOPMed
KIF20B	Q96Q89	p.Glu563Gly	rs1200805646	missense variant	-	NC_000010.11:g.89719672A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu563Lys	rs1482633345	missense variant	-	NC_000010.11:g.89719671G>A	gnomAD
KIF20B	Q96Q89	p.Asn564Ser	rs779378406	missense variant	-	NC_000010.11:g.89719675A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn564Asp	rs1257918755	missense variant	-	NC_000010.11:g.89719674A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn564Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89719675A>C	NCI-TCGA
KIF20B	Q96Q89	p.Lys565Glu	rs1186243011	missense variant	-	NC_000010.11:g.89719677A>G	gnomAD
KIF20B	Q96Q89	p.Ala566Ser	rs746372007	missense variant	-	NC_000010.11:g.89719680G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Ala566Pro	rs746372007	missense variant	-	NC_000010.11:g.89719680G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser569Thr	rs377420072	missense variant	-	NC_000010.11:g.89719690G>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His570Tyr	rs780550307	missense variant	-	NC_000010.11:g.89719692C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu571Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89719695G>A	NCI-TCGA
KIF20B	Q96Q89	p.Arg574Thr	rs768808298	missense variant	-	NC_000010.11:g.89719705G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg574Lys	rs768808298	missense variant	-	NC_000010.11:g.89719705G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg574Ser	rs1395617105	missense variant	-	NC_000010.11:g.89719706A>T	gnomAD
KIF20B	Q96Q89	p.Asp578Ala	rs754987089	missense variant	-	NC_000010.11:g.89723974A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile580Val	rs371134968	missense variant	-	NC_000010.11:g.89723979A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile580Met	rs748313937	missense variant	-	NC_000010.11:g.89723981A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp582Asn	rs770111248	missense variant	-	NC_000010.11:g.89723985G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys584Glu	rs778153285	missense variant	-	NC_000010.11:g.89723991A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys585Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89723996A>C	NCI-TCGA
KIF20B	Q96Q89	p.Lys586Asn	rs770872298	missense variant	-	NC_000010.11:g.89723999A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu587Arg	rs759563026	missense variant	-	NC_000010.11:g.89724001T>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn589Ser	rs1266919497	missense variant	-	NC_000010.11:g.89724007A>G	gnomAD
KIF20B	Q96Q89	p.Asn589His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89724006A>C	NCI-TCGA
KIF20B	Q96Q89	p.Glu590Gly	rs771482152	missense variant	-	NC_000010.11:g.89724010A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu590Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89724009G>A	NCI-TCGA
KIF20B	Q96Q89	p.Lys592Glu	rs1265830960	missense variant	-	NC_000010.11:g.89724015A>G	gnomAD
KIF20B	Q96Q89	p.Lys592ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89724010A>-	NCI-TCGA
KIF20B	Q96Q89	p.Lys594Arg	rs1432984208	missense variant	-	NC_000010.11:g.89724022A>G	gnomAD
KIF20B	Q96Q89	p.Lys594Glu	rs1454271169	missense variant	-	NC_000010.11:g.89724021A>G	TOPMed
KIF20B	Q96Q89	p.Leu595Phe	rs775126321	missense variant	-	NC_000010.11:g.89724026A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu595Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89724024T>A	NCI-TCGA
KIF20B	Q96Q89	p.Thr596Ser	rs1481263293	missense variant	-	NC_000010.11:g.89724027A>T	TOPMed
KIF20B	Q96Q89	p.Glu598Ter	rs753517112	stop gained	-	NC_000010.11:g.89724033G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys600Arg	rs901445846	missense variant	-	NC_000010.11:g.89724040A>G	TOPMed
KIF20B	Q96Q89	p.Lys600Glu	rs763251034	missense variant	-	NC_000010.11:g.89724039A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile601Val	rs766774900	missense variant	-	NC_000010.11:g.89724042A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg602Ter	rs571660825	stop gained	-	NC_000010.11:g.89724045C>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln611Ter	rs1486480017	stop gained	-	NC_000010.11:g.89724072C>T	TOPMed
KIF20B	Q96Q89	p.Tyr612Cys	rs1305805927	missense variant	-	NC_000010.11:g.89724076A>G	gnomAD
KIF20B	Q96Q89	p.Ala614Thr	rs866470653	missense variant	-	NC_000010.11:g.89724081G>A	gnomAD
KIF20B	Q96Q89	p.Ala614Ser	rs866470653	missense variant	-	NC_000010.11:g.89724081G>T	gnomAD
KIF20B	Q96Q89	p.Gln615His	rs1264211249	missense variant	-	NC_000010.11:g.89724086A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg616Gln	rs752762024	missense variant	-	NC_000010.11:g.89724088G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg616Trp	rs1027968562	missense variant	-	NC_000010.11:g.89724087C>T	TOPMed
KIF20B	Q96Q89	p.Glu617Lys	rs1326094307	missense variant	-	NC_000010.11:g.89724090G>A	TOPMed
KIF20B	Q96Q89	p.Glu617Gly	rs1284217141	missense variant	-	NC_000010.11:g.89724091A>G	TOPMed
KIF20B	Q96Q89	p.Ala618Thr	rs371085455	missense variant	-	NC_000010.11:g.89724093G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Phe620Leu	rs1297861852	missense variant	-	NC_000010.11:g.89724101T>A	TOPMed
KIF20B	Q96Q89	p.Lys621Thr	rs778094059	missense variant	-	NC_000010.11:g.89724103A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys621Gln	rs1382784773	missense variant	-	NC_000010.11:g.89724102A>C	TOPMed
KIF20B	Q96Q89	p.Lys621Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89724103A>T	NCI-TCGA
KIF20B	Q96Q89	p.Glu622Ala	rs146858896	missense variant	-	NC_000010.11:g.89725022A>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu622Gln	rs754111994	missense variant	-	NC_000010.11:g.89725021G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr623Ser	rs985560925	missense variant	-	NC_000010.11:g.89725025C>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln626Arg	rs911415682	missense variant	-	NC_000010.11:g.89725034A>G	TOPMed
KIF20B	Q96Q89	p.Glu627Val	rs941548577	missense variant	-	NC_000010.11:g.89725037A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg628Ter	rs142589580	stop gained	-	NC_000010.11:g.89725039C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg628Gln	rs758155614	missense variant	-	NC_000010.11:g.89725040G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg628Pro	rs758155614	missense variant	-	NC_000010.11:g.89725040G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu629Lys	rs779990837	missense variant	-	NC_000010.11:g.89725042G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu629Gly	rs746346176	missense variant	-	NC_000010.11:g.89725043A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile630Leu	rs768120334	missense variant	-	NC_000010.11:g.89725045A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile630Met	rs150954557	missense variant	-	NC_000010.11:g.89725047A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile630Val	rs768120334	missense variant	-	NC_000010.11:g.89725045A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn634Thr	rs769377812	missense variant	-	NC_000010.11:g.89725058A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu636Gly	rs1404824792	missense variant	-	NC_000010.11:g.89725064A>G	gnomAD
KIF20B	Q96Q89	p.Arg637Cys	rs375544106	missense variant	-	NC_000010.11:g.89725066C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg637His	rs1221270148	missense variant	-	NC_000010.11:g.89725067G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg638His	rs1363717002	missense variant	-	NC_000010.11:g.89725070G>A	gnomAD
KIF20B	Q96Q89	p.Arg638Cys	rs755409283	missense variant	-	NC_000010.11:g.89725069C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu639Val	rs767823064	missense variant	-	NC_000010.11:g.89725072T>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala640Thr	rs368955427	missense variant	-	NC_000010.11:g.89725075G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile641Val	rs140716229	missense variant	-	NC_000010.11:g.89725078A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Phe642Leu	rs764260171	missense variant	-	NC_000010.11:g.89725081T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys643Arg	rs753914848	missense variant	-	NC_000010.11:g.89725085A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys643Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89725086G>T	NCI-TCGA
KIF20B	Q96Q89	p.Asp644Gly	rs757420354	missense variant	-	NC_000010.11:g.89725088A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp644Asn	rs1206034890	missense variant	-	NC_000010.11:g.89725087G>A	TOPMed
KIF20B	Q96Q89	p.Asp644Val	rs757420354	missense variant	-	NC_000010.11:g.89725088A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp644Tyr	rs1206034890	missense variant	-	NC_000010.11:g.89725087G>T	TOPMed
KIF20B	Q96Q89	p.Gly647Arg	rs767767972	missense variant	-	NC_000010.11:g.89725096G>C	TOPMed
KIF20B	Q96Q89	p.Lys648Asn	rs1210735142	missense variant	-	NC_000010.11:g.89725101A>T	gnomAD
KIF20B	Q96Q89	p.Thr651Ala	rs372702796	missense variant	-	NC_000010.11:g.89725108A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr651Pro	rs372702796	missense variant	-	NC_000010.11:g.89725108A>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg652Gln	rs746958313	missense variant	-	NC_000010.11:g.89725112G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg652Ter	rs758186840	stop gained	-	NC_000010.11:g.89725111C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu654Ala	rs111669804	missense variant	-	NC_000010.11:g.89725118A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu654Gly	rs111669804	missense variant	-	NC_000010.11:g.89725118A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu654Lys	rs1478894265	missense variant	-	NC_000010.11:g.89725117G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala655Thr	rs781120688	missense variant	-	NC_000010.11:g.89725120G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Ala656Glu	rs145716217	missense variant	-	NC_000010.11:g.89725124C>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala656Val	rs145716217	missense variant	-	NC_000010.11:g.89725124C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala656Thr	rs376644821	missense variant	-	NC_000010.11:g.89725123G>A	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Ala656Gly	rs145716217	missense variant	-	NC_000010.11:g.89725124C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys660Arg	rs775779401	missense variant	-	NC_000010.11:g.89725135T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Cys660Phe	COSM4016543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89725136G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ala661Val	rs761139450	missense variant	-	NC_000010.11:g.89725139C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys663Glu	rs1230430143	missense variant	-	NC_000010.11:g.89725144A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Val664Ala	rs777312246	missense variant	-	NC_000010.11:g.89725148T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu665Gly	rs761932655	missense variant	-	NC_000010.11:g.89725151A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu667Asp	rs1290510809	missense variant	-	NC_000010.11:g.89725158A>C	gnomAD
KIF20B	Q96Q89	p.Glu668Lys	rs1308448981	missense variant	-	NC_000010.11:g.89726293G>A	gnomAD
KIF20B	Q96Q89	p.Thr669Ser	rs1163531647	missense variant	-	NC_000010.11:g.89726296A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.His670Tyr	rs762447837	missense variant	-	NC_000010.11:g.89726299C>T	ExAC,TOPMed
KIF20B	Q96Q89	p.His670Arg	rs1432021348	missense variant	-	NC_000010.11:g.89726300A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.His670Leu	rs1432021348	missense variant	-	NC_000010.11:g.89726300A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn671Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89726303A>C	NCI-TCGA
KIF20B	Q96Q89	p.Tyr672His	rs1364705356	missense variant	-	NC_000010.11:g.89726305T>C	gnomAD
KIF20B	Q96Q89	p.Tyr672Ter	rs199671628	stop gained	-	NC_000010.11:g.89726307T>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gly674Glu	rs1415106024	missense variant	-	NC_000010.11:g.89726312G>A	TOPMed
KIF20B	Q96Q89	p.Glu676Gln	rs1166618034	missense variant	-	NC_000010.11:g.89726317G>C	TOPMed
KIF20B	Q96Q89	p.Ile678Ser	rs763106606	missense variant	-	NC_000010.11:g.89726324T>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp680Glu	rs1451939041	missense variant	-	NC_000010.11:g.89726331T>G	gnomAD
KIF20B	Q96Q89	p.Ser681Cys	rs1314304144	missense variant	-	NC_000010.11:g.89726333C>G	gnomAD
KIF20B	Q96Q89	p.Ser681Tyr	rs1314304144	missense variant	-	NC_000010.11:g.89726333C>A	gnomAD
KIF20B	Q96Q89	p.Gln683His	rs1238818412	missense variant	-	NC_000010.11:g.89726340A>T	TOPMed
KIF20B	Q96Q89	p.Asp684Val	rs139423559	missense variant	-	NC_000010.11:g.89726342A>T	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Asp684Gly	rs139423559	missense variant	-	NC_000010.11:g.89726342A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Asn685Ile	rs113908675	missense variant	-	NC_000010.11:g.89726345A>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn685Ser	rs113908675	missense variant	-	NC_000010.11:g.89726345A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala687Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89726350G>A	NCI-TCGA
KIF20B	Q96Q89	p.Ile689Phe	rs551492524	missense variant	-	NC_000010.11:g.89726356A>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile689Met	rs1344888406	missense variant	-	NC_000010.11:g.89726358T>G	TOPMed
KIF20B	Q96Q89	p.Leu698Phe	rs1182368644	missense variant	-	NC_000010.11:g.89726385A>T	gnomAD
KIF20B	Q96Q89	p.Leu698Ser	rs777783770	missense variant	-	NC_000010.11:g.89726384T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Tyr699Cys	rs757008979	missense variant	-	NC_000010.11:g.89726387A>G	gnomAD
KIF20B	Q96Q89	p.Tyr699His	rs768009282	missense variant	-	NC_000010.11:g.89726386T>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile700Val	rs753225098	missense variant	-	NC_000010.11:g.89726389A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile700Leu	rs753225098	missense variant	-	NC_000010.11:g.89726389A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser702Thr	rs191962962	missense variant	-	NC_000010.11:g.89726395T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro704Arg	rs1466836347	missense variant	-	NC_000010.11:g.89726402C>G	gnomAD
KIF20B	Q96Q89	p.Asp705Glu	rs745562196	missense variant	-	NC_000010.11:g.89726406C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp705Glu	rs745562196	missense variant	-	NC_000010.11:g.89726406C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Pro706Arg	rs1469419098	missense variant	-	NC_000010.11:g.89726408C>G	gnomAD
KIF20B	Q96Q89	p.Gln707ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89726405_89726406insC	NCI-TCGA
KIF20B	Q96Q89	p.Ala709Asp	rs781730356	missense variant	-	NC_000010.11:g.89726417C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr710Ala	rs748647932	missense variant	-	NC_000010.11:g.89726419A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys712Gly	rs773773250	missense variant	-	NC_000010.11:g.89726425T>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu713Ser	rs1325664745	missense variant	-	NC_000010.11:g.89726429T>C	gnomAD
KIF20B	Q96Q89	p.Glu714Lys	rs964470518	missense variant	-	NC_000010.11:g.89726431G>A	TOPMed
KIF20B	Q96Q89	p.Glu714Ter	COSM921312	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89726431G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Gln719His	rs771063788	missense variant	-	NC_000010.11:g.89726448A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln719Arg	rs762899192	missense variant	-	NC_000010.11:g.89726447A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile720Leu	rs774526818	missense variant	-	NC_000010.11:g.89726449A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr727Asn	rs759823642	missense variant	-	NC_000010.11:g.89726471C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr727Ala	rs1202547461	missense variant	-	NC_000010.11:g.89726470A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys728Glu	rs1203925009	missense variant	-	NC_000010.11:g.89726473A>G	gnomAD
KIF20B	Q96Q89	p.Gly729Ter	rs1261580176	stop gained	-	NC_000010.11:g.89726476G>T	gnomAD
KIF20B	Q96Q89	p.Glu730Lys	COSM275736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89726479G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys735Asn	rs183238428	missense variant	-	NC_000010.11:g.89726496A>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys739Asn	rs1160055698	missense variant	-	NC_000010.11:g.89726508A>C	gnomAD
KIF20B	Q96Q89	p.Lys740Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89726511G>T	NCI-TCGA
KIF20B	Q96Q89	p.Arg741Gly	rs760527281	missense variant	-	NC_000010.11:g.89726512A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu742Ter	COSM3807951	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89726515G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Asn743Asp	rs763900980	missense variant	-	NC_000010.11:g.89726518A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn743His	rs763900980	missense variant	-	NC_000010.11:g.89726518A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser745Leu	rs776398093	missense variant	-	NC_000010.11:g.89727859C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp746Asn	rs1305650443	missense variant	-	NC_000010.11:g.89727861G>A	gnomAD
KIF20B	Q96Q89	p.Leu748Phe	rs775923499	missense variant	-	NC_000010.11:g.89727869G>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln750Glu	rs1019348983	missense variant	-	NC_000010.11:g.89727873C>G	TOPMed
KIF20B	Q96Q89	p.Leu752Phe	rs1299000723	missense variant	-	NC_000010.11:g.89727879C>T	gnomAD
KIF20B	Q96Q89	p.Leu752Pro	rs1248846151	missense variant	-	NC_000010.11:g.89727880T>C	gnomAD
KIF20B	Q96Q89	p.Glu753Gln	COSM1968912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89727882G>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Glu753Lys	rs764824532	missense variant	-	NC_000010.11:g.89727882G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr754Ala	rs749892495	missense variant	-	NC_000010.11:g.89727885A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr754Lys	rs1206233983	missense variant	-	NC_000010.11:g.89727886C>A	gnomAD
KIF20B	Q96Q89	p.Asn756Ile	rs12572012	missense variant	-	NC_000010.11:g.89727892A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn756Asp	rs200422852	missense variant	-	NC_000010.11:g.89727891A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys757Asn	rs1425590100	missense variant	-	NC_000010.11:g.89727896G>T	gnomAD
KIF20B	Q96Q89	p.Lys757Arg	rs756411084	missense variant	-	NC_000010.11:g.89727895A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys758Glu	rs904759468	missense variant	-	NC_000010.11:g.89729128A>G	TOPMed
KIF20B	Q96Q89	p.Lys758Asn	rs1421948070	missense variant	-	NC_000010.11:g.89729130A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile760Val	rs1169325644	missense variant	-	NC_000010.11:g.89729134A>G	gnomAD
KIF20B	Q96Q89	p.Thr761Ile	rs773312148	missense variant	-	NC_000010.11:g.89729138C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr761Ala	rs769783936	missense variant	-	NC_000010.11:g.89729137A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg765Lys	rs762501126	missense variant	-	NC_000010.11:g.89729150G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg765Ile	rs762501126	missense variant	-	NC_000010.11:g.89729150G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile766Val	rs1242043653	missense variant	-	NC_000010.11:g.89729152A>G	TOPMed
KIF20B	Q96Q89	p.Lys767Glu	rs751139534	missense variant	-	NC_000010.11:g.89729155A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu768Ter	COSM1675416	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89729158G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Leu769Ser	rs767089419	missense variant	-	NC_000010.11:g.89729162T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile770Val	rs754166229	missense variant	-	NC_000010.11:g.89729164A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn771Asp	rs116288233	missense variant	-	NC_000010.11:g.89729167A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile772Val	rs3758387	missense variant	-	NC_000010.11:g.89729170A>G	gnomAD
KIF20B	Q96Q89	p.Asp774Tyr	COSM6130877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89729176G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys776Gln	rs779346249	missense variant	-	NC_000010.11:g.89729182A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu777Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.89729185G>T	NCI-TCGA
KIF20B	Q96Q89	p.Ile780Val	rs147005975	missense variant	-	NC_000010.11:g.89729194A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile780Phe	rs147005975	missense variant	-	NC_000010.11:g.89729194A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile780Thr	rs780243396	missense variant	-	NC_000010.11:g.89729195T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn781Ser	rs1243722331	missense variant	-	NC_000010.11:g.89729198A>G	gnomAD
KIF20B	Q96Q89	p.Glu782Asp	rs1296800715	missense variant	-	NC_000010.11:g.89729202A>T	TOPMed
KIF20B	Q96Q89	p.Glu782Lys	rs373615206	missense variant	-	NC_000010.11:g.89729200G>A	ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu782Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89729201A>C	NCI-TCGA
KIF20B	Q96Q89	p.Gln784Ter	rs768863280	stop gained	-	NC_000010.11:g.89729206C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln784Arg	rs781271666	missense variant	-	NC_000010.11:g.89729207A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu786Val	rs747911223	missense variant	-	NC_000010.11:g.89729212C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys787Asn	rs769732448	missense variant	-	NC_000010.11:g.89729217G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His789Leu	rs3758388	missense variant	-	NC_000010.11:g.89729222A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His789Asp	rs1320867650	missense variant	-	NC_000010.11:g.89729221C>G	gnomAD
KIF20B	Q96Q89	p.Met790Val	rs76150148	missense variant	-	NC_000010.11:g.89729224A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Met790Ile	rs909819762	missense variant	-	NC_000010.11:g.89729226G>A	TOPMed
KIF20B	Q96Q89	p.Glu791Lys	rs976720001	missense variant	-	NC_000010.11:g.89729227G>A	TOPMed
KIF20B	Q96Q89	p.Asn792Ile	rs1394768783	missense variant	-	NC_000010.11:g.89729231A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys796Ser	rs1221951095	missense variant	-	NC_000010.11:g.89729242T>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn797Lys	rs377501846	missense variant	-	NC_000010.11:g.89729247T>G	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Asn797Tyr	rs528777679	missense variant	-	NC_000010.11:g.89729245A>T	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Asn797Ser	rs1329952739	missense variant	-	NC_000010.11:g.89729246A>G	gnomAD
KIF20B	Q96Q89	p.Asp798Gly	rs1380062662	missense variant	-	NC_000010.11:g.89732904A>G	TOPMed
KIF20B	Q96Q89	p.Asp798Glu	rs765569384	missense variant	-	NC_000010.11:g.89732905C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp801Gly	rs1033738666	missense variant	-	NC_000010.11:g.89732913A>G	TOPMed
KIF20B	Q96Q89	p.Thr802Ile	rs773503670	missense variant	-	NC_000010.11:g.89732916C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr802Ser	rs1482266620	missense variant	-	NC_000010.11:g.89732915A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser804Cys	COSM3807953	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89732922C>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ile806Val	rs560443579	missense variant	-	NC_000010.11:g.89732927A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile806Arg	rs766866013	missense variant	-	NC_000010.11:g.89732928T>G	ExAC,TOPMed
KIF20B	Q96Q89	p.Ile807Leu	rs752027575	missense variant	-	NC_000010.11:g.89732930A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile807Val	rs752027575	missense variant	-	NC_000010.11:g.89732930A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn808Lys	rs189443463	missense variant	-	NC_000010.11:g.89732935C>A	1000Genomes,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn808Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89732935C>G	NCI-TCGA
KIF20B	Q96Q89	p.Leu811Trp	rs1249941374	missense variant	-	NC_000010.11:g.89732943T>G	TOPMed
KIF20B	Q96Q89	p.Asn814Ser	rs767533013	missense variant	-	NC_000010.11:g.89732952A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu815Ter	rs1179678295	stop gained	-	NC_000010.11:g.89732954G>T	gnomAD
KIF20B	Q96Q89	p.Pro820Ser	rs756348312	missense variant	-	NC_000010.11:g.89732969C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser823Arg	rs1460807823	missense variant	-	NC_000010.11:g.89732980C>G	TOPMed
KIF20B	Q96Q89	p.Ser823Asn	COSM921314	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89732979G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser823Gly	rs1339702482	missense variant	-	NC_000010.11:g.89732978A>G	gnomAD
KIF20B	Q96Q89	p.Ser823Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89732979G>T	NCI-TCGA
KIF20B	Q96Q89	p.Lys824Glu	rs1253925115	missense variant	-	NC_000010.11:g.89732981A>G	TOPMed
KIF20B	Q96Q89	p.Lys824Arg	rs757027479	missense variant	-	NC_000010.11:g.89732982A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys824Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89732983A>C	NCI-TCGA
KIF20B	Q96Q89	p.Lys824Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89732982A>C	NCI-TCGA
KIF20B	Q96Q89	p.Ser825Thr	rs1201966012	missense variant	-	NC_000010.11:g.89732984T>A	TOPMed
KIF20B	Q96Q89	p.Lys826Glu	rs778890662	missense variant	-	NC_000010.11:g.89732987A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys828Ser	rs376723750	missense variant	-	NC_000010.11:g.89732994G>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser829Ter	rs144738424	stop gained	-	NC_000010.11:g.89732997C>G	ESP,ExAC,TOPMed
KIF20B	Q96Q89	p.Glu830Ala	rs1297694740	missense variant	-	NC_000010.11:g.89733000A>C	TOPMed
KIF20B	Q96Q89	p.Arg831SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89733003_89733004insCTAC	NCI-TCGA
KIF20B	Q96Q89	p.Asn835Ser	rs148101512	missense variant	-	NC_000010.11:g.89733015A>G	ESP
KIF20B	Q96Q89	p.Gln840Arg	rs989688519	missense variant	-	NC_000010.11:g.89733030A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp842Gly	rs371603977	missense variant	-	NC_000010.11:g.89733036A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu843Lys	rs1374026137	missense variant	-	NC_000010.11:g.89733038G>A	gnomAD
KIF20B	Q96Q89	p.Pro845Leu	rs374027434	missense variant	-	NC_000010.11:g.89733045C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys847Glu	rs1403329599	missense variant	-	NC_000010.11:g.89733050A>G	TOPMed
KIF20B	Q96Q89	p.Lys848Asn	rs1395957162	missense variant	-	NC_000010.11:g.89733055A>C	gnomAD
KIF20B	Q96Q89	p.Lys848Thr	rs768226883	missense variant	-	NC_000010.11:g.89733054A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Gly849Glu	rs1304584605	missense variant	-	NC_000010.11:g.89737387G>A	gnomAD
KIF20B	Q96Q89	p.Ile851Val	rs764311635	missense variant	-	NC_000010.11:g.89737392A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile851Thr	rs748246289	missense variant	-	NC_000010.11:g.89737393T>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.His852Arg	rs754090221	missense variant	-	NC_000010.11:g.89737396A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Val853Phe	rs762003553	missense variant	-	NC_000010.11:g.89737398G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val853Ala	rs765514704	missense variant	-	NC_000010.11:g.89737399T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser854Cys	COSM428114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737401A>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser854Gly	rs750114333	missense variant	-	NC_000010.11:g.89737401A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser855Leu	rs758239922	missense variant	-	NC_000010.11:g.89737405C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala856Asp	rs370484351	missense variant	-	NC_000010.11:g.89737408C>A	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Ala856Val	rs370484351	missense variant	-	NC_000010.11:g.89737408C>T	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Ile857Val	rs751544939	missense variant	-	NC_000010.11:g.89737410A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr858Ile	rs1252796663	missense variant	-	NC_000010.11:g.89737414C>T	gnomAD
KIF20B	Q96Q89	p.Gln861Arg	rs1280489945	missense variant	-	NC_000010.11:g.89737423A>G	TOPMed
KIF20B	Q96Q89	p.Ser864Thr	rs754451636	missense variant	-	NC_000010.11:g.89737432G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser864Cys	rs1417349052	missense variant	-	NC_000010.11:g.89737431A>T	gnomAD
KIF20B	Q96Q89	p.Glu866Gln	rs1379536336	missense variant	-	NC_000010.11:g.89737437G>C	gnomAD
KIF20B	Q96Q89	p.Glu866Ala	rs79120882	missense variant	-	NC_000010.11:g.89737438A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu866Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737437G>A	NCI-TCGA
KIF20B	Q96Q89	p.Arg868Ter	rs747822069	stop gained	-	NC_000010.11:g.89737443C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg868Gln	rs146050509	missense variant	-	NC_000010.11:g.89737444G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro869Thr	rs1457068575	missense variant	-	NC_000010.11:g.89737446C>A	gnomAD
KIF20B	Q96Q89	p.Pro869Leu	rs777512294	missense variant	-	NC_000010.11:g.89737447C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro869Ala	rs1457068575	missense variant	-	NC_000010.11:g.89737446C>G	gnomAD
KIF20B	Q96Q89	p.Asn870Ser	rs78963463	missense variant	-	NC_000010.11:g.89737450A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile871Val	rs114505265	missense variant	-	NC_000010.11:g.89737452A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile871Thr	rs375340649	missense variant	-	NC_000010.11:g.89737453T>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu873Ala	rs1248691006	missense variant	-	NC_000010.11:g.89737459A>C	gnomAD
KIF20B	Q96Q89	p.Ile874Val	rs768846216	missense variant	-	NC_000010.11:g.89737461A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile874Met	rs1357880033	missense variant	-	NC_000010.11:g.89737463T>G	TOPMed
KIF20B	Q96Q89	p.Asp876Gly	rs776518445	missense variant	-	NC_000010.11:g.89737468A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp876Tyr	COSM921316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737467G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ile877Leu	rs765334220	missense variant	-	NC_000010.11:g.89737470A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg878Thr	rs750678256	missense variant	-	NC_000010.11:g.89737474G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Val879Ile	rs762711597	missense variant	-	NC_000010.11:g.89737476G>A	ExAC,TOPMed
KIF20B	Q96Q89	p.Gln881Arg	rs766200114	missense variant	-	NC_000010.11:g.89737483A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu882Asp	rs938519006	missense variant	-	NC_000010.11:g.89737487A>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn883IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89737489_89737511ATAATGAAGGACTGAGAGCATTT>-	NCI-TCGA
KIF20B	Q96Q89	p.Asn883His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737488A>C	NCI-TCGA
KIF20B	Q96Q89	p.Glu885Lys	rs754966153	missense variant	-	NC_000010.11:g.89737494G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Gly886Val	rs752109208	missense variant	-	NC_000010.11:g.89737498G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Gly886Arg	rs781202563	missense variant	-	NC_000010.11:g.89737497G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg888Thr	rs755673341	missense variant	-	NC_000010.11:g.89737504G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ala889Ser	rs146393515	missense variant	-	NC_000010.11:g.89737506G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala889Thr	rs146393515	missense variant	-	NC_000010.11:g.89737506G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu892His	rs1188060483	missense variant	-	NC_000010.11:g.89737516T>A	TOPMed
KIF20B	Q96Q89	p.Leu892Val	rs368315164	missense variant	-	NC_000010.11:g.89737515C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr893Ile	rs372813515	missense variant	-	NC_000010.11:g.89737519C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile894Val	rs747394790	missense variant	-	NC_000010.11:g.89737521A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu895Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737524G>C	NCI-TCGA
KIF20B	Q96Q89	p.Lys899Gln	rs1176079556	missense variant	-	NC_000010.11:g.89737536A>C	gnomAD
KIF20B	Q96Q89	p.Glu901Gly	rs201846033	missense variant	-	NC_000010.11:g.89737543A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys902Glu	rs748124141	missense variant	-	NC_000010.11:g.89737545A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala906Glu	rs769962290	missense variant	-	NC_000010.11:g.89737558C>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn909Ser	rs766148294	missense variant	-	NC_000010.11:g.89737567A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn909Ile	rs766148294	missense variant	-	NC_000010.11:g.89737567A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn909Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737566A>G	NCI-TCGA
KIF20B	Q96Q89	p.Ile912Val	rs1482807052	missense variant	-	NC_000010.11:g.89737575A>G	gnomAD
KIF20B	Q96Q89	p.Ile912Asn	rs1286443862	missense variant	-	NC_000010.11:g.89737576T>A	TOPMed
KIF20B	Q96Q89	p.His914Asn	rs1453907899	missense variant	-	NC_000010.11:g.89737581C>A	TOPMed
KIF20B	Q96Q89	p.Gln917CysSer	NCI-TCGA novel	insertion	-	NC_000010.11:g.89737591_89737592insATGTTC	NCI-TCGA
KIF20B	Q96Q89	p.Glu918Val	rs774073640	missense variant	-	NC_000010.11:g.89737594A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu919Val	rs1426337178	missense variant	-	NC_000010.11:g.89737596C>G	gnomAD
KIF20B	Q96Q89	p.Ser920Pro	rs1329645484	missense variant	-	NC_000010.11:g.89737599T>C	TOPMed
KIF20B	Q96Q89	p.Leu921Val	COSM6067290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737602C>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser922Pro	rs759331085	missense variant	-	NC_000010.11:g.89737605T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys924Arg	rs375938397	missense variant	-	NC_000010.11:g.89737612A>G	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Lys925Asn	COSM3415329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737616G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys925ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89737609A>-	NCI-TCGA
KIF20B	Q96Q89	p.Asn926Ser	rs752730939	missense variant	-	NC_000010.11:g.89737618A>G	ExAC
KIF20B	Q96Q89	p.Leu927Ter	rs1365687384	stop gained	-	NC_000010.11:g.89737621T>G	gnomAD
KIF20B	Q96Q89	p.Thr928Ala	rs763729318	missense variant	-	NC_000010.11:g.89737623A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser930Thr	rs753530758	missense variant	-	NC_000010.11:g.89737630G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys931Glu	rs1360179353	missense variant	-	NC_000010.11:g.89737632A>G	gnomAD
KIF20B	Q96Q89	p.Glu932Ter	rs756914916	stop gained	-	NC_000010.11:g.89737635G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu932Lys	rs756914916	missense variant	-	NC_000010.11:g.89737635G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val933Gly	rs778717324	missense variant	-	NC_000010.11:g.89737639T>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln937His	rs116910696	missense variant	-	NC_000010.11:g.89737652G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln937His	rs116910696	missense variant	-	NC_000010.11:g.89737652G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser938Ter	rs1245735389	stop gained	-	NC_000010.11:g.89737654C>G	TOPMed
KIF20B	Q96Q89	p.Tyr940Asp	rs369103401	missense variant	-	NC_000010.11:g.89737659T>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp941Gly	rs1311512445	missense variant	-	NC_000010.11:g.89737663A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp941Asn	rs781525524	missense variant	-	NC_000010.11:g.89737662G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile942Thr	rs1302020036	missense variant	-	NC_000010.11:g.89737666T>C	gnomAD
KIF20B	Q96Q89	p.Ala945Thr	rs550934310	missense variant	-	NC_000010.11:g.89737674G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu947Ser	rs1307561148	missense variant	-	NC_000010.11:g.89737681T>C	TOPMed
KIF20B	Q96Q89	p.His948Pro	rs539858808	missense variant	-	NC_000010.11:g.89737684A>C	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.His948Arg	rs539858808	missense variant	-	NC_000010.11:g.89737684A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.His948Tyr	rs150024761	missense variant	-	NC_000010.11:g.89737683C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val949Met	rs774578114	missense variant	-	NC_000010.11:g.89737686G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val949Leu	rs774578114	missense variant	-	NC_000010.11:g.89737686G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln950Lys	rs1401759406	missense variant	-	NC_000010.11:g.89737689C>A	gnomAD
KIF20B	Q96Q89	p.Gln950HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89737689_89737690insATTTCTTA	NCI-TCGA
KIF20B	Q96Q89	p.Gln950PheArgPro	NCI-TCGA novel	insertion	-	NC_000010.11:g.89737691_89737692insTTTCGTCCT	NCI-TCGA
KIF20B	Q96Q89	p.Lys951Arg	rs759304471	missense variant	-	NC_000010.11:g.89737693A>G	ExAC
KIF20B	Q96Q89	p.Asn954Thr	rs1343824202	missense variant	-	NC_000010.11:g.89737702A>C	gnomAD
KIF20B	Q96Q89	p.Asn954His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737701A>C	NCI-TCGA
KIF20B	Q96Q89	p.Gln955Lys	COSM466067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737704C>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Gln957His	COSM921318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737712G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Gln957Pro	rs1276580891	missense variant	-	NC_000010.11:g.89737711A>C	gnomAD
KIF20B	Q96Q89	p.Glu958Ter	rs775282828	stop gained	-	NC_000010.11:g.89737713G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu958Lys	rs775282828	missense variant	-	NC_000010.11:g.89737713G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu958Val	rs760720747	missense variant	-	NC_000010.11:g.89737714A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu959Asp	rs763948311	missense variant	-	NC_000010.11:g.89737718A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys960Glu	rs1351694051	missense variant	-	NC_000010.11:g.89737719A>G	TOPMed
KIF20B	Q96Q89	p.Lys960Asn	COSM1321985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737721G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys960Arg	rs1274302530	missense variant	-	NC_000010.11:g.89737720A>G	gnomAD
KIF20B	Q96Q89	p.Ile961Met	rs144947333	missense variant	-	NC_000010.11:g.89737724C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile961Val	rs753328541	missense variant	-	NC_000010.11:g.89737722A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Met962Val	rs1220465776	missense variant	-	NC_000010.11:g.89737725A>G	gnomAD
KIF20B	Q96Q89	p.Asn966His	rs375953320	missense variant	-	NC_000010.11:g.89737737A>C	ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn966Asp	rs375953320	missense variant	-	NC_000010.11:g.89737737A>G	ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile968Thr	rs1419426176	missense variant	-	NC_000010.11:g.89737744T>C	TOPMed
KIF20B	Q96Q89	p.Thr972Ile	rs1489218050	missense variant	-	NC_000010.11:g.89737756C>T	TOPMed
KIF20B	Q96Q89	p.Arg973Gly	rs1024644135	missense variant	-	NC_000010.11:g.89737758A>G	TOPMed
KIF20B	Q96Q89	p.Arg973Ile	COSM921319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737759G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser974Thr	rs1489227857	missense variant	-	NC_000010.11:g.89737762G>C	gnomAD
KIF20B	Q96Q89	p.Ser974Asn	COSM257235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737762G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ile975Val	rs199626794	missense variant	-	NC_000010.11:g.89737764A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile975Asn	rs755269444	missense variant	-	NC_000010.11:g.89737765T>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr976Ile	rs149051114	missense variant	-	NC_000010.11:g.89737768C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn977Tyr	rs753133210	missense variant	-	NC_000010.11:g.89737770A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn977Asp	rs753133210	missense variant	-	NC_000010.11:g.89737770A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile982Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737785A>G	NCI-TCGA
KIF20B	Q96Q89	p.Ile982Met	rs1378934225	missense variant	-	NC_000010.11:g.89737787A>G	gnomAD
KIF20B	Q96Q89	p.Met985Val	rs573380739	missense variant	-	NC_000010.11:g.89737794A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Met985Thr	rs536047150	missense variant	-	NC_000010.11:g.89737795T>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His986Tyr	rs771048255	missense variant	-	NC_000010.11:g.89737797C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr987Met	rs779075638	missense variant	-	NC_000010.11:g.89737801C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys988Asn	rs147780471	missense variant	-	NC_000010.11:g.89737805A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile989Val	rs775294446	missense variant	-	NC_000010.11:g.89737806A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile989Met	rs760387684	missense variant	-	NC_000010.11:g.89737808A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile989Thr	rs1281281711	missense variant	-	NC_000010.11:g.89737807T>C	gnomAD
KIF20B	Q96Q89	p.Asp990Gly	rs768593820	missense variant	-	NC_000010.11:g.89737810A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu991Lys	rs761389049	missense variant	-	NC_000010.11:g.89737812G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu991Gly	rs764883701	missense variant	-	NC_000010.11:g.89737813A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu991Asp	rs373614828	missense variant	-	NC_000010.11:g.89737814A>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu992Pro	rs762726364	missense variant	-	NC_000010.11:g.89737816T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg993Pro	rs771883789	missense variant	-	NC_000010.11:g.89737819G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg993Cys	rs765962967	missense variant	-	NC_000010.11:g.89737818C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg993ValPheSerTerUnkUnk	COSM921320	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89737818C>-	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Arg993His	rs771883789	missense variant	-	NC_000010.11:g.89737819G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu995Phe	rs756466212	missense variant	-	NC_000010.11:g.89737824C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser997Leu	rs1051925305	missense variant	-	NC_000010.11:g.89737831C>T	gnomAD
KIF20B	Q96Q89	p.Ser997Ter	rs1051925305	stop gained	-	NC_000010.11:g.89737831C>G	gnomAD
KIF20B	Q96Q89	p.Ser999Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737837C>T	NCI-TCGA
KIF20B	Q96Q89	p.Ile1001Val	rs754382182	missense variant	-	NC_000010.11:g.89737842A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1001Met	rs757323881	missense variant	-	NC_000010.11:g.89737844T>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1001Thr	rs1397484102	missense variant	-	NC_000010.11:g.89737843T>C	gnomAD
KIF20B	Q96Q89	p.Asn1003Asp	rs34999049	missense variant	-	NC_000010.11:g.89737848A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1003Ser	rs1476547878	missense variant	-	NC_000010.11:g.89737849A>G	TOPMed
KIF20B	Q96Q89	p.Ile1004ArgPheSerTerUnkUnk	rs759603637	frameshift	-	NC_000010.11:g.89737851_89737852AT>-	NCI-TCGA
KIF20B	Q96Q89	p.Asp1005Ala	rs745947393	missense variant	-	NC_000010.11:g.89737855A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1006Phe	rs1384741968	missense variant	-	NC_000010.11:g.89737859G>T	gnomAD
KIF20B	Q96Q89	p.Leu1006Ter	rs1315583361	stop gained	-	NC_000010.11:g.89737858T>A	gnomAD
KIF20B	Q96Q89	p.Leu1006Phe	rs1384741968	missense variant	-	NC_000010.11:g.89737859G>C	gnomAD
KIF20B	Q96Q89	p.Leu1007His	rs760311235	missense variant	-	NC_000010.11:g.89737861T>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1008Ser	rs1215858463	missense variant	-	NC_000010.11:g.89737864A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1008Asp	rs768625398	missense variant	-	NC_000010.11:g.89737863A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1009Phe	rs148049931	missense variant	-	NC_000010.11:g.89737866C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1009Arg	rs1208416129	missense variant	-	NC_000010.11:g.89737867T>G	TOPMed
KIF20B	Q96Q89	p.Asp1011Glu	rs1062465	missense variant	-	NC_000010.11:g.89737874T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1013Ala	rs1441119412	missense variant	-	NC_000010.11:g.89737878T>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1013Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.89737879C>G	NCI-TCGA
KIF20B	Q96Q89	p.Asn1020Thr	COSM921321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737900A>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Leu1021Ser	rs762375702	missense variant	-	NC_000010.11:g.89737903T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1023His	rs751194437	missense variant	-	NC_000010.11:g.89737908A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1023Ser	rs1378286762	missense variant	-	NC_000010.11:g.89737909A>G	TOPMed
KIF20B	Q96Q89	p.Thr1024Ile	rs1470309561	missense variant	-	NC_000010.11:g.89737912C>T	gnomAD
KIF20B	Q96Q89	p.Thr1024Ala	COSM686124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737911A>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Asn1031Ser	rs764509050	missense variant	-	NC_000010.11:g.89737933A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1031Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737932A>G	NCI-TCGA
KIF20B	Q96Q89	p.Tyr1033Phe	rs757702483	missense variant	-	NC_000010.11:g.89737939A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1034Ser	rs1316756789	missense variant	-	NC_000010.11:g.89737942T>C	gnomAD
KIF20B	Q96Q89	p.Ser1036Thr	rs765735174	missense variant	-	NC_000010.11:g.89737948G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1036Ile	rs765735174	missense variant	-	NC_000010.11:g.89737948G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1038Arg	rs758425932	missense variant	-	NC_000010.11:g.89737954A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln1038Glu	rs750472714	missense variant	-	NC_000010.11:g.89737953C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1040Arg	rs1429664350	missense variant	-	NC_000010.11:g.89737960A>G	TOPMed
KIF20B	Q96Q89	p.Glu1041Lys	rs1463164504	missense variant	-	NC_000010.11:g.89737962G>A	gnomAD
KIF20B	Q96Q89	p.Glu1041Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737963A>C	NCI-TCGA
KIF20B	Q96Q89	p.Tyr1042His	rs780296597	missense variant	-	NC_000010.11:g.89737965T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Tyr1042Cys	rs369579248	missense variant	-	NC_000010.11:g.89737966A>G	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1043Gln	rs371655633	missense variant	-	NC_000010.11:g.89737969G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1043Ter	rs150367819	stop gained	-	NC_000010.11:g.89737968C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1043Leu	rs371655633	missense variant	-	NC_000010.11:g.89737969G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1046Asp	rs375178802	missense variant	-	NC_000010.11:g.89737979A>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro1047His	rs748783218	missense variant	-	NC_000010.11:g.89737981C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1048Ser	rs774047998	missense variant	-	NC_000010.11:g.89737984A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1048Asp	rs770386949	missense variant	-	NC_000010.11:g.89737983A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1048Ile	rs774047998	missense variant	-	NC_000010.11:g.89737984A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1049Gly	rs767167656	missense variant	-	NC_000010.11:g.89737986A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1051Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89737993A>G	NCI-TCGA
KIF20B	Q96Q89	p.Ser1052Tyr	rs776912439	missense variant	-	NC_000010.11:g.89737996C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser1052Phe	COSM3441434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89737996C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.His1054Arg	rs1296038031	missense variant	-	NC_000010.11:g.89738002A>G	gnomAD
KIF20B	Q96Q89	p.Ser1056Thr	rs765680007	missense variant	-	NC_000010.11:g.89738008G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser1056Ile	rs765680007	missense variant	-	NC_000010.11:g.89738008G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1057Ser	rs1302731113	missense variant	-	NC_000010.11:g.89738011T>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1059Thr	rs758477425	missense variant	-	NC_000010.11:g.89738016G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Trp1061Ser	rs766439713	missense variant	-	NC_000010.11:g.89738023G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1062Ter	rs1353290708	stop gained	-	NC_000010.11:g.89738025G>T	gnomAD
KIF20B	Q96Q89	p.Cys1064Gly	rs1024742853	missense variant	-	NC_000010.11:g.89738031T>G	TOPMed
KIF20B	Q96Q89	p.Glu1066Asp	rs373589296	missense variant	-	NC_000010.11:g.89738039G>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1067Val	rs1490568537	missense variant	-	NC_000010.11:g.89738040A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1070Ser	rs138228331	missense variant	-	NC_000010.11:g.89738049G>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1070Gly	rs541996453	missense variant	-	NC_000010.11:g.89738050C>G	1000Genomes
KIF20B	Q96Q89	p.Ala1070Thr	rs138228331	missense variant	-	NC_000010.11:g.89738049G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1070Pro	rs138228331	missense variant	-	NC_000010.11:g.89738049G>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1071Phe	COSM4821027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89738053C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys1073Gln	rs777744964	missense variant	-	NC_000010.11:g.89738058A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1074Asn	rs770460815	missense variant	-	NC_000010.11:g.89738063A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser1075Asn	rs201617733	missense variant	-	NC_000010.11:g.89738065G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1075ValPheSerTerUnkUnk	COSM1968953	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89738058A>-	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser1075Gly	rs745385361	missense variant	-	NC_000010.11:g.89738064A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.His1076Arg	rs367727797	missense variant	-	NC_000010.11:g.89738068A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His1076Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738068A>C	NCI-TCGA
KIF20B	Q96Q89	p.Gln1077Pro	rs1368450473	missense variant	-	NC_000010.11:g.89738071A>C	TOPMed
KIF20B	Q96Q89	p.Ile1078Asn	rs762140094	missense variant	-	NC_000010.11:g.89738074T>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1081Met	rs765556365	missense variant	-	NC_000010.11:g.89738082C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1081Val	rs765556365	missense variant	-	NC_000010.11:g.89738082C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1085Thr	rs1360557001	missense variant	-	NC_000010.11:g.89738095T>C	gnomAD
KIF20B	Q96Q89	p.Ile1085Val	rs1308948786	missense variant	-	NC_000010.11:g.89738094A>G	gnomAD
KIF20B	Q96Q89	p.Glu1086Gly	rs1224067292	missense variant	-	NC_000010.11:g.89738098A>G	gnomAD
KIF20B	Q96Q89	p.Gln1089Ter	rs1263838173	stop gained	-	NC_000010.11:g.89738106C>T	gnomAD
KIF20B	Q96Q89	p.Ala1090Thr	rs766927016	missense variant	-	NC_000010.11:g.89738109G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Val1092Ile	rs1196445111	missense variant	-	NC_000010.11:g.89738115G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1093Glu	rs1355725713	missense variant	-	NC_000010.11:g.89738118A>G	TOPMed
KIF20B	Q96Q89	p.Tyr1095Phe	rs142890695	missense variant	-	NC_000010.11:g.89738125A>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr1095Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.89738123_89738124insTAACTGTG	NCI-TCGA
KIF20B	Q96Q89	p.Tyr1095Cys	rs142890695	missense variant	-	NC_000010.11:g.89738125A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1096Thr	rs973425017	missense variant	-	NC_000010.11:g.89738128A>C	TOPMed
KIF20B	Q96Q89	p.Asn1099Lys	rs767799601	missense variant	-	NC_000010.11:g.89738138C>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1099Ile	rs1379475423	missense variant	-	NC_000010.11:g.89738137A>T	gnomAD
KIF20B	Q96Q89	p.Asn1100Ser	rs114371507	missense variant	-	NC_000010.11:g.89738140A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1100Ile	rs114371507	missense variant	-	NC_000010.11:g.89738140A>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1102Val	rs78400882	missense variant	-	NC_000010.11:g.89738145C>G	ExAC,TOPMed
KIF20B	Q96Q89	p.Lys1103Asn	rs76057302	missense variant	-	NC_000010.11:g.89738150G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1104Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738153G>T	NCI-TCGA
KIF20B	Q96Q89	p.Lys1105Arg	rs79579856	missense variant	-	NC_000010.11:g.89738155A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1110Arg	rs779646473	missense variant	-	NC_000010.11:g.89738170A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1113Ile	rs1386362544	missense variant	-	NC_000010.11:g.89738178C>A	TOPMed
KIF20B	Q96Q89	p.Leu1113Val	COSM6130875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89738178C>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Leu1113Arg	rs1310923650	missense variant	-	NC_000010.11:g.89738179T>G	gnomAD
KIF20B	Q96Q89	p.Lys1115Glu	rs746735387	missense variant	-	NC_000010.11:g.89738184A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1116Gly	rs766853715	missense variant	-	NC_000010.11:g.89738188A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1118Gln	COSM4826927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89738193G>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Thr1119Ala	rs770185093	missense variant	-	NC_000010.11:g.89738196A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr1119Ser	rs773394311	missense variant	-	NC_000010.11:g.89738197C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1120Val	rs763383909	missense variant	-	NC_000010.11:g.89738199C>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1121Thr	rs368304916	missense variant	-	NC_000010.11:g.89738203T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1121Leu	rs931445688	missense variant	-	NC_000010.11:g.89738202A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1121Met	rs147954246	missense variant	-	NC_000010.11:g.89738204A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1121Arg	rs368304916	missense variant	-	NC_000010.11:g.89738203T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1123Arg	rs767746356	missense variant	-	NC_000010.11:g.89738209A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1124Met	rs752953055	missense variant	-	NC_000010.11:g.89738211C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1126Ter	COSM289711	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89738217G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Glu1127Gln	rs11185863	missense variant	-	NC_000010.11:g.89738220G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1128Met	rs1301432885	missense variant	-	NC_000010.11:g.89738223T>A	gnomAD
KIF20B	Q96Q89	p.Leu1128Trp	rs1046481107	missense variant	-	NC_000010.11:g.89738224T>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1129Arg	rs904983259	missense variant	-	NC_000010.11:g.89738227A>G	TOPMed
KIF20B	Q96Q89	p.Gln1129Ter	rs998507213	stop gained	-	NC_000010.11:g.89738226C>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1130Gly	rs778690180	missense variant	-	NC_000010.11:g.89738230A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1130Asp	rs750396763	missense variant	-	NC_000010.11:g.89738231A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1130Lys	rs757094581	missense variant	-	NC_000010.11:g.89738229G>A	ExAC
KIF20B	Q96Q89	p.Lys1131Glu	rs141907832	missense variant	-	NC_000010.11:g.89738232A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1132Tyr	rs1212021499	missense variant	-	NC_000010.11:g.89738235A>T	gnomAD
KIF20B	Q96Q89	p.Asn1132Lys	rs1002366189	missense variant	-	NC_000010.11:g.89738237T>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1132MetPheSerTerUnkUnk	COSM1722154	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89738230A>-	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Asn1132Ser	rs1232096793	missense variant	-	NC_000010.11:g.89738236A>G	TOPMed
KIF20B	Q96Q89	p.Thr1134Ile	rs1053507629	missense variant	-	NC_000010.11:g.89738242C>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1134Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738242C>A	NCI-TCGA
KIF20B	Q96Q89	p.Leu1135Pro	rs568672822	missense variant	-	NC_000010.11:g.89738245T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1136Asn	rs141950040	missense variant	-	NC_000010.11:g.89738247G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1139Thr	rs1192276884	missense variant	-	NC_000010.11:g.89738257T>C	gnomAD
KIF20B	Q96Q89	p.Ile1139Val	rs1366788261	missense variant	-	NC_000010.11:g.89738256A>G	TOPMed
KIF20B	Q96Q89	p.Gln1140Ter	COSM3807957	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89738259C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.His1141Gln	rs148573019	missense variant	-	NC_000010.11:g.89738264T>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His1141Asp	rs1298110902	missense variant	-	NC_000010.11:g.89738262C>G	TOPMed
KIF20B	Q96Q89	p.His1141Arg	rs144843486	missense variant	-	NC_000010.11:g.89738263A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val1142Ile	rs1455802714	missense variant	-	NC_000010.11:g.89738265G>A	gnomAD
KIF20B	Q96Q89	p.Val1142Ala	rs1416686417	missense variant	-	NC_000010.11:g.89738266T>C	gnomAD
KIF20B	Q96Q89	p.Lys1146Arg	rs760178295	missense variant	-	NC_000010.11:g.89738278A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1147Lys	rs772720230	missense variant	-	NC_000010.11:g.89738281G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1147Ser	rs1477839486	missense variant	-	NC_000010.11:g.89738282A>C	TOPMed
KIF20B	Q96Q89	p.Ala1148Thr	rs775642819	missense variant	-	NC_000010.11:g.89738283G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1148Val	rs117564945	missense variant	-	NC_000010.11:g.89738284C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1149Phe	rs761478881	missense variant	-	NC_000010.11:g.89738286C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1152Ile	COSM3397293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89738295C>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Thr1153Ile	rs1026349230	missense variant	-	NC_000010.11:g.89738299C>T	TOPMed
KIF20B	Q96Q89	p.Thr1153Lys	rs1026349230	missense variant	-	NC_000010.11:g.89738299C>A	TOPMed
KIF20B	Q96Q89	p.Gln1154Arg	rs150657646	missense variant	-	NC_000010.11:g.89738302A>G	ESP,gnomAD
KIF20B	Q96Q89	p.Gly1155Arg	rs1311459555	missense variant	-	NC_000010.11:g.89738304G>C	gnomAD
KIF20B	Q96Q89	p.Val1156Ala	COSM921323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89738308T>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Thr1157Ile	rs373468932	missense variant	-	NC_000010.11:g.89738311C>T	ESP,TOPMed
KIF20B	Q96Q89	p.Tyr1159Ser	rs577918687	missense variant	-	NC_000010.11:g.89738317A>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr1159Cys	rs577918687	missense variant	-	NC_000010.11:g.89738317A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr1159His	rs557988714	missense variant	-	NC_000010.11:g.89738316T>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1160Glu	rs751032264	missense variant	-	NC_000010.11:g.89738319A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1162Asn	rs1246809989	missense variant	-	NC_000010.11:g.89738327A>T	gnomAD
KIF20B	Q96Q89	p.Lys1162Glu	rs754539821	missense variant	-	NC_000010.11:g.89738325A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1163Val	rs780688492	missense variant	-	NC_000010.11:g.89738328A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1164Arg	rs1264594745	missense variant	-	NC_000010.11:g.89738332A>G	TOPMed
KIF20B	Q96Q89	p.Glu1165Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738336A>C	NCI-TCGA
KIF20B	Q96Q89	p.Glu1167Gln	rs747875200	missense variant	-	NC_000010.11:g.89738340G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1169Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738346A>C	NCI-TCGA
KIF20B	Q96Q89	p.Thr1172Ala	rs779361610	missense variant	-	NC_000010.11:g.89738355A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln1173Arg	rs746239771	missense variant	-	NC_000010.11:g.89738359A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys1177Ser	rs1886996	missense variant	-	NC_000010.11:g.89738370T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys1177Arg	rs1886996	missense variant	-	NC_000010.11:g.89738370T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys1177Tyr	rs202221525	missense variant	-	NC_000010.11:g.89738371G>A	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His1179Tyr	rs747034628	missense variant	-	NC_000010.11:g.89738376C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.His1179Asn	rs747034628	missense variant	-	NC_000010.11:g.89738376C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.His1179Gln	rs1178839875	missense variant	-	NC_000010.11:g.89738378T>A	TOPMed
KIF20B	Q96Q89	p.Ala1181Thr	rs776710112	missense variant	-	NC_000010.11:g.89738382G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1184Ala	rs762149860	missense variant	-	NC_000010.11:g.89738392A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1184Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738391G>A	NCI-TCGA
KIF20B	Q96Q89	p.Gln1185Glu	rs147796970	missense variant	-	NC_000010.11:g.89738394C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp1186Glu	rs1290070475	missense variant	-	NC_000010.11:g.89738399C>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1190Thr	rs772928928	missense variant	-	NC_000010.11:g.89738410A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1191Ala	rs766259228	missense variant	-	NC_000010.11:g.89738413A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1191Gln	rs762770718	missense variant	-	NC_000010.11:g.89738412G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1191Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738412G>A	NCI-TCGA
KIF20B	Q96Q89	p.Ile1193Met	rs375369186	missense variant	-	NC_000010.11:g.89738420C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1193Val	rs201445803	missense variant	-	NC_000010.11:g.89738418A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1194Val	rs754417788	missense variant	-	NC_000010.11:g.89738421A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1194Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738422T>C	NCI-TCGA
KIF20B	Q96Q89	p.Leu1195Ile	rs1164118371	missense variant	-	NC_000010.11:g.89738424T>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1197Pro	rs139497016	missense variant	-	NC_000010.11:g.89738431T>C	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1198Asp	rs755760483	missense variant	-	NC_000010.11:g.89738435A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1199Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738437G>A	NCI-TCGA
KIF20B	Q96Q89	p.Asn1200Lys	rs1447456206	missense variant	-	NC_000010.11:g.89738441T>G	gnomAD
KIF20B	Q96Q89	p.Asn1200His	rs777598313	missense variant	-	NC_000010.11:g.89738439A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1200Asp	COSM3397295	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89738439A>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Leu1201Ser	rs1212079702	missense variant	-	NC_000010.11:g.89738443T>C	gnomAD
KIF20B	Q96Q89	p.Lys1202Glu	rs746184816	missense variant	-	NC_000010.11:g.89738445A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1202Arg	rs758880025	missense variant	-	NC_000010.11:g.89738446A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln1205Ter	COSM3441438	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89738454C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.His1207Leu	rs780673592	missense variant	-	NC_000010.11:g.89738461A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.His1207Gln	rs777701651	missense variant	-	NC_000010.11:g.89738462T>G	TOPMed
KIF20B	Q96Q89	p.Leu1208Phe	rs1215781303	missense variant	-	NC_000010.11:g.89738463C>T	TOPMed
KIF20B	Q96Q89	p.Leu1208Pro	rs747614030	missense variant	-	NC_000010.11:g.89738464T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1209Ter	rs1471768031	stop gained	-	NC_000010.11:g.89738466C>T	gnomAD
KIF20B	Q96Q89	p.Ser1211Pro	rs144980311	missense variant	-	NC_000010.11:g.89738472T>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val1212Phe	rs147115055	missense variant	-	NC_000010.11:g.89738475G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val1212Ile	rs147115055	missense variant	-	NC_000010.11:g.89738475G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1213Arg	rs373055860	missense variant	-	NC_000010.11:g.89738479A>G	ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1213Gln	rs1201088465	missense variant	-	NC_000010.11:g.89738478A>C	gnomAD
KIF20B	Q96Q89	p.Asn1214ThrPheSerTerUnk	COSM1638678	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89738478A>-	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Asn1214Asp	rs1457645691	missense variant	-	NC_000010.11:g.89738481A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1216Glu	rs149103168	missense variant	-	NC_000010.11:g.89738487A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1216Arg	rs1168674673	missense variant	-	NC_000010.11:g.89738488A>G	TOPMed
KIF20B	Q96Q89	p.Asp1217Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738490G>T	NCI-TCGA
KIF20B	Q96Q89	p.Asn1219Lys	rs762715615	missense variant	-	NC_000010.11:g.89738498T>A	ExAC
KIF20B	Q96Q89	p.Asn1219Ser	rs1886997	missense variant	-	NC_000010.11:g.89738497A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1219Thr	rs1886997	missense variant	-	NC_000010.11:g.89738497A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val1220Ile	rs770754356	missense variant	-	NC_000010.11:g.89738499G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1223Phe	COSM3967209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89738508C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys1224Arg	rs767360842	missense variant	-	NC_000010.11:g.89738512A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1225Pro	rs151203510	missense variant	-	NC_000010.11:g.89738515T>C	ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1227Val	rs140341168	missense variant	-	NC_000010.11:g.89738521A>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1227Ter	COSM261661	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89738520G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Glu1228Ter	COSM4016545	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89738523G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ile1229Ser	rs1445385468	missense variant	-	NC_000010.11:g.89738527T>G	gnomAD
KIF20B	Q96Q89	p.Ile1229Leu	rs1235951315	missense variant	-	NC_000010.11:g.89738526A>C	TOPMed
KIF20B	Q96Q89	p.Gln1231Ter	rs1437897090	stop gained	-	NC_000010.11:g.89738532C>T	TOPMed
KIF20B	Q96Q89	p.Asn1235Ser	rs753582024	missense variant	-	NC_000010.11:g.89738545A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1236Phe	rs758828483	missense variant	-	NC_000010.11:g.89738549G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln1237Pro	rs1411347324	missense variant	-	NC_000010.11:g.89738551A>C	gnomAD
KIF20B	Q96Q89	p.Asp1238His	rs751880293	missense variant	-	NC_000010.11:g.89738553G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Met1239Lys	rs1330085204	missense variant	-	NC_000010.11:g.89738557T>A	gnomAD
KIF20B	Q96Q89	p.Met1239Ile	rs755450200	missense variant	-	NC_000010.11:g.89738558G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1240Arg	rs1440996054	missense variant	-	NC_000010.11:g.89738560A>G	gnomAD
KIF20B	Q96Q89	p.Lys1240Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738560A>C	NCI-TCGA
KIF20B	Q96Q89	p.His1241Arg	rs376561901	missense variant	-	NC_000010.11:g.89738563A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His1241Asp	rs1357865631	missense variant	-	NC_000010.11:g.89738562C>G	TOPMed
KIF20B	Q96Q89	p.His1241Pro	rs376561901	missense variant	-	NC_000010.11:g.89738563A>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1242Ser	rs187783613	missense variant	-	NC_000010.11:g.89738566T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1243Phe	rs1274458736	missense variant	-	NC_000010.11:g.89738568C>T	gnomAD
KIF20B	Q96Q89	p.Gln1244Pro	rs373556748	missense variant	-	NC_000010.11:g.89738572A>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1244Arg	rs373556748	missense variant	-	NC_000010.11:g.89738572A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1244His	rs1461445982	missense variant	-	NC_000010.11:g.89738573A>C	gnomAD
KIF20B	Q96Q89	p.Gln1244Lys	rs749579155	missense variant	-	NC_000010.11:g.89738571C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1245Val	rs1009232296	missense variant	-	NC_000010.11:g.89738574T>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1245Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738574T>A	NCI-TCGA
KIF20B	Q96Q89	p.Glu1247Ala	COSM3985810	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89738581A>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Glu1250Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.89738589G>T	NCI-TCGA
KIF20B	Q96Q89	p.GluThr1251GluLysTerTerLeuHisSerGluGluThrTerGlnIleProLeuTerUnk	rs766729878	stop gained	-	NC_000010.11:g.89738595_89738596insAATAATAACTTCATAGTGAAGAAACCTAGCAGATACCACTTTAA	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1253Ser	rs775337894	missense variant	-	NC_000010.11:g.89738599A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1253Lys	rs760227696	missense variant	-	NC_000010.11:g.89738600C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1254Gly	rs375682004	missense variant	-	NC_000010.11:g.89738601A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1254Lys	rs1027047459	missense variant	-	NC_000010.11:g.89738602G>A	TOPMed
KIF20B	Q96Q89	p.Glu1258Val	rs1234625222	missense variant	-	NC_000010.11:g.89738614A>T	gnomAD
KIF20B	Q96Q89	p.Lys1259Glu	rs751914239	missense variant	-	NC_000010.11:g.89738616A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1261Arg	rs544410846	missense variant	-	NC_000010.11:g.89738963A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1261Thr	rs544410846	missense variant	-	NC_000010.11:g.89738963A>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1262Asp	rs756556741	missense variant	-	NC_000010.11:g.89738967G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1262Gly	rs1387906177	missense variant	-	NC_000010.11:g.89738966A>G	gnomAD
KIF20B	Q96Q89	p.Glu1263Gly	rs1320996745	missense variant	-	NC_000010.11:g.89738969A>G	TOPMed
KIF20B	Q96Q89	p.Ser1265Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738974T>C	NCI-TCGA
KIF20B	Q96Q89	p.Ala1266Val	rs753864053	missense variant	-	NC_000010.11:g.89738978C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1268Cys	rs1306631899	missense variant	-	NC_000010.11:g.89738984C>G	gnomAD
KIF20B	Q96Q89	p.Ser1268Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89738984C>T	NCI-TCGA
KIF20B	Q96Q89	p.Ala1269Val	rs757329358	missense variant	-	NC_000010.11:g.89738987C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1270Cys	rs779163740	missense variant	-	NC_000010.11:g.89738989C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1270His	rs746139748	missense variant	-	NC_000010.11:g.89738990G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1270Pro	rs746139748	missense variant	-	NC_000010.11:g.89738990G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1271Ile	rs1389252851	missense variant	-	NC_000010.11:g.89738993C>T	TOPMed
KIF20B	Q96Q89	p.Gln1272His	rs779935159	missense variant	-	NC_000010.11:g.89738997G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1273Ser	rs1212993467	missense variant	-	NC_000010.11:g.89738999A>G	gnomAD
KIF20B	Q96Q89	p.Leu1274Arg	rs771361517	missense variant	-	NC_000010.11:g.89739002T>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp1277Gly	rs1458967076	missense variant	-	NC_000010.11:g.89739011A>G	gnomAD
KIF20B	Q96Q89	p.Leu1278Arg	rs1231115192	missense variant	-	NC_000010.11:g.89739014T>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1278Phe	rs768678283	missense variant	-	NC_000010.11:g.89739013C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1278Val	rs768678283	missense variant	-	NC_000010.11:g.89739013C>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1280Ser	rs372651065	missense variant	-	NC_000010.11:g.89739021G>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1280Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89739020G>T	NCI-TCGA
KIF20B	Q96Q89	p.Glu1282GlyPheSerTerUnk	COSM5215429	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.89739021_89739022insA	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Glu1283Ter	rs1166413600	stop gained	-	NC_000010.11:g.89739028G>T	gnomAD
KIF20B	Q96Q89	p.Asp1284Glu	rs1460408712	missense variant	-	NC_000010.11:g.89739033T>A	gnomAD
KIF20B	Q96Q89	p.Tyr1285His	rs1172101419	missense variant	-	NC_000010.11:g.89739034T>C	gnomAD
KIF20B	Q96Q89	p.Ala1286Val	rs1403068630	missense variant	-	NC_000010.11:g.89739038C>T	gnomAD
KIF20B	Q96Q89	p.Asp1287Asn	rs150394796	missense variant	-	NC_000010.11:g.89739040G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp1287Gly	rs1380285102	missense variant	-	NC_000010.11:g.89739041A>G	gnomAD
KIF20B	Q96Q89	p.Lys1289Thr	rs267602617	missense variant	-	NC_000010.11:g.89739047A>C	TOPMed
KIF20B	Q96Q89	p.Lys1289Arg	rs267602617	missense variant	-	NC_000010.11:g.89739047A>G	TOPMed
KIF20B	Q96Q89	p.Glu1290Asp	rs36109527	missense variant	-	NC_000010.11:g.89739051G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1293Ser	rs529232609	missense variant	-	NC_000010.11:g.89739059C>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1296Glu	rs1250575318	missense variant	-	NC_000010.11:g.89739067A>G	gnomAD
KIF20B	Q96Q89	p.Lys1296Arg	rs754382351	missense variant	-	NC_000010.11:g.89739068A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val1302Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89739086T>C	NCI-TCGA
KIF20B	Q96Q89	p.Lys1304Glu	rs1196415519	missense variant	-	NC_000010.11:g.89739091A>G	TOPMed
KIF20B	Q96Q89	p.Val1306Ala	COSM1968989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89743809T>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Val1306Ile	COSM1968987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89743808G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser1307Cys	rs1439908192	missense variant	-	NC_000010.11:g.89743812C>G	TOPMed
KIF20B	Q96Q89	p.Arg1310His	rs144377752	missense variant	-	NC_000010.11:g.89743821G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1310Cys	rs376129504	missense variant	-	NC_000010.11:g.89743820C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp1311Glu	rs1467271666	missense variant	-	NC_000010.11:g.89743825T>A	TOPMed
KIF20B	Q96Q89	p.Asp1311Gly	rs769075368	missense variant	-	NC_000010.11:g.89743824A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1313Gly	rs1174355559	missense variant	-	NC_000010.11:g.89743830A>G	gnomAD
KIF20B	Q96Q89	p.Lys1314Glu	rs777106636	missense variant	-	NC_000010.11:g.89743832A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Leu1316Pro	rs943745143	missense variant	-	NC_000010.11:g.89743839T>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1317Thr	rs1300215121	missense variant	-	NC_000010.11:g.89743842G>C	gnomAD
KIF20B	Q96Q89	p.Ile1320Thr	rs140968638	missense variant	-	NC_000010.11:g.89743851T>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1320Ser	rs140968638	missense variant	-	NC_000010.11:g.89743851T>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1321Ser	rs1258689947	missense variant	-	NC_000010.11:g.89743854A>G	TOPMed
KIF20B	Q96Q89	p.Glu1322Ter	rs1288275610	stop gained	-	NC_000010.11:g.89743856G>T	gnomAD
KIF20B	Q96Q89	p.Glu1324Asp	rs543007275	missense variant	-	NC_000010.11:g.89743864G>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1324Lys	rs750426962	missense variant	-	NC_000010.11:g.89743862G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1326Asn	rs1346809088	missense variant	-	NC_000010.11:g.89743870G>C	gnomAD
KIF20B	Q96Q89	p.Asn1328Lys	rs751875487	missense variant	-	NC_000010.11:g.89743876C>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1328Ser	rs766688685	missense variant	-	NC_000010.11:g.89743875A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1331Phe	rs754819247	missense variant	-	NC_000010.11:g.89743884C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1333Asp	COSM4016547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89743891A>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Asp1335Asn	rs143200257	missense variant	-	NC_000010.11:g.89743895G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp1335His	rs143200257	missense variant	-	NC_000010.11:g.89743895G>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Met1336Thr	rs1322007971	missense variant	-	NC_000010.11:g.89743899T>C	TOPMed
KIF20B	Q96Q89	p.Met1336Val	rs1232292908	missense variant	-	NC_000010.11:g.89743898A>G	TOPMed
KIF20B	Q96Q89	p.Arg1339Gln	rs777798374	missense variant	-	NC_000010.11:g.89743908G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1339Ter	rs1340241633	stop gained	-	NC_000010.11:g.89743907C>T	gnomAD
KIF20B	Q96Q89	p.Arg1339Leu	rs777798374	missense variant	-	NC_000010.11:g.89743908G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1346Ala	rs778333569	missense variant	-	NC_000010.11:g.89745900A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1350Tyr	rs1227183188	missense variant	-	NC_000010.11:g.89745911A>T	TOPMed
KIF20B	Q96Q89	p.Gln1351Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89745914C>G	NCI-TCGA
KIF20B	Q96Q89	p.Glu1354Lys	rs758003194	missense variant	-	NC_000010.11:g.89745923G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1358Pro	rs1230912039	missense variant	-	NC_000010.11:g.89745936A>C	gnomAD
KIF20B	Q96Q89	p.Gln1359His	rs748442622	missense variant	-	NC_000010.11:g.89745940G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr1360Cys	rs770237957	missense variant	-	NC_000010.11:g.89745942A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr1360Phe	rs770237957	missense variant	-	NC_000010.11:g.89745942A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1361Gly	rs1437541031	missense variant	-	NC_000010.11:g.89745945A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1361Asp	COSM921325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89745946G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Glu1361Ala	rs1437541031	missense variant	-	NC_000010.11:g.89745945A>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1363Gly	rs774506122	missense variant	-	NC_000010.11:g.89745951C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1365Arg	rs759723028	missense variant	-	NC_000010.11:g.89745957A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp1366Gly	rs775560493	missense variant	-	NC_000010.11:g.89751346A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1366Val	rs775560493	missense variant	-	NC_000010.11:g.89751346A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1371Asp	rs1404792604	missense variant	-	NC_000010.11:g.89751362G>C	TOPMed
KIF20B	Q96Q89	p.Lys1372Glu	rs370361159	missense variant	-	NC_000010.11:g.89751363A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Met1377Leu	rs776366561	missense variant	-	NC_000010.11:g.89751378A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Met1377Thr	rs150940648	missense variant	-	NC_000010.11:g.89751379T>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Met1377Ile	rs765135484	missense variant	-	NC_000010.11:g.89751380G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1378Leu	rs750403068	missense variant	-	NC_000010.11:g.89751382G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1378Ter	rs1306111010	stop gained	-	NC_000010.11:g.89751381C>T	gnomAD
KIF20B	Q96Q89	p.Arg1378Gln	rs750403068	missense variant	-	NC_000010.11:g.89751382G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1380Ile	rs1237866184	missense variant	-	NC_000010.11:g.89751388C>T	TOPMed
KIF20B	Q96Q89	p.Gln1384Glu	COSM1321984	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89751399C>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Gln1384Arg	rs1203448954	missense variant	-	NC_000010.11:g.89751400A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1385Lys	rs751049331	missense variant	-	NC_000010.11:g.89751402G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1385Val	rs1446391403	missense variant	-	NC_000010.11:g.89751403A>T	gnomAD
KIF20B	Q96Q89	p.Glu1385Gly	COSM921326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89751403A>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Gln1386Arg	rs780739656	missense variant	-	NC_000010.11:g.89751406A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr1387Ile	rs754207898	missense variant	-	NC_000010.11:g.89751409C>T	ExAC
KIF20B	Q96Q89	p.Gln1388His	rs1172688767	missense variant	-	NC_000010.11:g.89751413G>C	gnomAD
KIF20B	Q96Q89	p.Gln1388Arg	rs375828767	missense variant	-	NC_000010.11:g.89751412A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val1389Ala	rs779556551	missense variant	-	NC_000010.11:g.89751415T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Val1389Ile	COSM921327	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89751414G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Gln1393Glu	rs746434011	missense variant	-	NC_000010.11:g.89751426C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Val1394Leu	rs772469205	missense variant	-	NC_000010.11:g.89751429G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1398Gln	rs139452485	missense variant	-	NC_000010.11:g.89751441A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1398Arg	rs1320548991	missense variant	-	NC_000010.11:g.89751442A>G	TOPMed
KIF20B	Q96Q89	p.Leu1399Ser	rs747085766	missense variant	-	NC_000010.11:g.89751445T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1400Gly	rs1289971285	missense variant	-	NC_000010.11:g.89751448A>G	TOPMed
KIF20B	Q96Q89	p.Glu1400Gln	rs1369333142	missense variant	-	NC_000010.11:g.89751447G>C	gnomAD
KIF20B	Q96Q89	p.Glu1400Asp	rs1440616973	missense variant	-	NC_000010.11:g.89751449G>C	gnomAD
KIF20B	Q96Q89	p.Val1402Ile	rs370697647	missense variant	-	NC_000010.11:g.89751453G>A	TOPMed
KIF20B	Q96Q89	p.Val1402Phe	rs370697647	missense variant	-	NC_000010.11:g.89751453G>T	TOPMed
KIF20B	Q96Q89	p.Leu1405Arg	rs1255364243	missense variant	-	NC_000010.11:g.89751463T>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1406Gly	rs1308160386	missense variant	-	NC_000010.11:g.89751466C>G	TOPMed
KIF20B	Q96Q89	p.Ala1406Pro	rs768871419	missense variant	-	NC_000010.11:g.89751465G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr1407Ala	rs776884271	missense variant	-	NC_000010.11:g.89751468A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr1407Ile	rs761563097	missense variant	-	NC_000010.11:g.89751469C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1408Gln	rs562653854	missense variant	-	NC_000010.11:g.89751471G>C	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1410Asp	rs1249368634	missense variant	-	NC_000010.11:g.89752574A>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Trp1412Ter	rs1423940708	stop gained	-	NC_000010.11:g.89752579G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1414Lys	rs149758232	missense variant	-	NC_000010.11:g.89752584G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys1416Trp	rs781390219	missense variant	-	NC_000010.11:g.89752592C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1417Asp	rs1171937429	missense variant	-	NC_000010.11:g.89752593A>G	gnomAD
KIF20B	Q96Q89	p.Asn1417Ser	rs551478794	missense variant	-	NC_000010.11:g.89752594A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1421Ile	rs1297867462	missense variant	-	NC_000010.11:g.89752606C>T	gnomAD
KIF20B	Q96Q89	p.Asn1424Tyr	rs772928845	missense variant	-	NC_000010.11:g.89752614A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1424Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89752615A>G	NCI-TCGA
KIF20B	Q96Q89	p.Arg1426Lys	rs762687954	missense variant	-	NC_000010.11:g.89752621G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1426Ser	rs145617702	missense variant	-	NC_000010.11:g.89752622G>T	ESP,ExAC
KIF20B	Q96Q89	p.His1431Tyr	rs759057746	missense variant	-	NC_000010.11:g.89752635C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1433Lys	rs140347341	missense variant	-	NC_000010.11:g.89752643C>A	ESP,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1433Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89752641A>G	NCI-TCGA
KIF20B	Q96Q89	p.Val1437Leu	rs145399222	missense variant	-	NC_000010.11:g.89752653G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val1437Met	COSM921328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89752653G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys1440Gln	rs775151933	missense variant	-	NC_000010.11:g.89752662A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Thr1442Ala	rs1250455536	missense variant	-	NC_000010.11:g.89752668A>G	gnomAD
KIF20B	Q96Q89	p.Asn1443Asp	rs763870025	missense variant	-	NC_000010.11:g.89752671A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1445Leu	rs1212522045	missense variant	-	NC_000010.11:g.89752678A>T	gnomAD
KIF20B	Q96Q89	p.Asp1446Val	rs1254794348	missense variant	-	NC_000010.11:g.89752681A>T	gnomAD
KIF20B	Q96Q89	p.Leu1448Ile	rs181525895	missense variant	-	NC_000010.11:g.89752686T>A	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Gln1449Ter	rs374333263	stop gained	-	NC_000010.11:g.89752689C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1449Glu	rs374333263	missense variant	-	NC_000010.11:g.89752689C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1452Gln	rs1371544083	missense variant	-	NC_000010.11:g.89754524G>C	gnomAD
KIF20B	Q96Q89	p.LysTyrAsn1454LysTerUnk	rs751627130	stop gained	-	NC_000010.11:g.89754535_89754536del	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1456Ser	rs1223945190	missense variant	-	NC_000010.11:g.89754537A>G	gnomAD
KIF20B	Q96Q89	p.Asn1456Asp	rs1328374349	missense variant	-	NC_000010.11:g.89754536A>G	TOPMed
KIF20B	Q96Q89	p.Ala1457Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89754539G>T	NCI-TCGA
KIF20B	Q96Q89	p.Asp1458Gly	rs372851514	missense variant	-	NC_000010.11:g.89754543A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asp1458Asn	rs1480730059	missense variant	-	NC_000010.11:g.89754542G>A	gnomAD
KIF20B	Q96Q89	p.Arg1459Lys	rs1162022656	missense variant	-	NC_000010.11:g.89754546G>A	TOPMed
KIF20B	Q96Q89	p.Lys1460Asn	COSM4696003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89754550G>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys1460Glu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89754548A>G	NCI-TCGA
KIF20B	Q96Q89	p.Lys1461Thr	rs1470146329	missense variant	-	NC_000010.11:g.89754552A>C	gnomAD
KIF20B	Q96Q89	p.Lys1461Glu	rs1386359342	missense variant	-	NC_000010.11:g.89754551A>G	TOPMed
KIF20B	Q96Q89	p.Trp1462Ter	rs775618151	stop gained	-	NC_000010.11:g.89754556G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1464Gly	rs1470650025	missense variant	-	NC_000010.11:g.89754561A>G	gnomAD
KIF20B	Q96Q89	p.Glu1465Gly	rs375746203	missense variant	-	NC_000010.11:g.89754564A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1466Glu	rs768347589	missense variant	-	NC_000010.11:g.89754566A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1466Arg	rs776330910	missense variant	-	NC_000010.11:g.89754567A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Met1467Leu	rs761315179	missense variant	-	NC_000010.11:g.89754569A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Met1467Ter	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89754564A>-	NCI-TCGA
KIF20B	Q96Q89	p.Met1468Val	rs1462911101	missense variant	-	NC_000010.11:g.89754572A>G	gnomAD
KIF20B	Q96Q89	p.Leu1469Val	rs769492969	missense variant	-	NC_000010.11:g.89754575C>G	ExAC
KIF20B	Q96Q89	p.Thr1471Pro	rs759915981	missense variant	-	NC_000010.11:g.89754581A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln1472Glu	rs369170052	missense variant	-	NC_000010.11:g.89754584C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1472His	rs372720193	missense variant	-	NC_000010.11:g.89754586A>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1473Val	rs753954878	missense variant	-	NC_000010.11:g.89754588C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1473Thr	rs764140726	missense variant	-	NC_000010.11:g.89754587G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1474Glu	rs1024977291	missense variant	-	NC_000010.11:g.89754590A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1476Thr	rs1272964199	missense variant	-	NC_000010.11:g.89754596G>A	gnomAD
KIF20B	Q96Q89	p.Asn1478Thr	rs1356535476	missense variant	-	NC_000010.11:g.89754603A>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1479Thr	rs757378200	missense variant	-	NC_000010.11:g.89754606T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1479Val	rs1443182066	missense variant	-	NC_000010.11:g.89754605A>G	gnomAD
KIF20B	Q96Q89	p.Ile1479Lys	rs757378200	missense variant	-	NC_000010.11:g.89754606T>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1480Gln	rs750217355	missense variant	-	NC_000010.11:g.89754609G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1480Ter	rs376548512	stop gained	-	NC_000010.11:g.89754608C>T	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1481Ser	rs574289755	missense variant	-	NC_000010.11:g.89754612A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1481Tyr	rs1469736437	missense variant	-	NC_000010.11:g.89754611A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Met1484Thr	rs1420048982	missense variant	-	NC_000010.11:g.89754621T>C	gnomAD
KIF20B	Q96Q89	p.Lys1486Asn	rs979748115	missense variant	-	NC_000010.11:g.89754628A>T	TOPMed
KIF20B	Q96Q89	p.Tyr1487Phe	rs926935231	missense variant	-	NC_000010.11:g.89754630A>T	TOPMed
KIF20B	Q96Q89	p.Tyr1487Ter	rs369338310	stop gained	-	NC_000010.11:g.89754631T>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1488Thr	rs1389830656	missense variant	-	NC_000010.11:g.89754632G>A	gnomAD
KIF20B	Q96Q89	p.Asp1490Val	rs1293078823	missense variant	-	NC_000010.11:g.89754639A>T	gnomAD
KIF20B	Q96Q89	p.Glu1492Gln	rs1330526853	missense variant	-	NC_000010.11:g.89754644G>C	gnomAD
KIF20B	Q96Q89	p.Arg1493Cys	rs768653134	missense variant	-	NC_000010.11:g.89754647C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1493His	rs763688811	missense variant	-	NC_000010.11:g.89754648G>A	TOPMed
KIF20B	Q96Q89	p.Phe1495LeuPheSerTerUnkUnk	rs755841488	frameshift	-	NC_000010.11:g.89754649T>-	NCI-TCGA,NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Phe1495Leu	rs1304082399	missense variant	-	NC_000010.11:g.89754655T>A	gnomAD
KIF20B	Q96Q89	p.Lys1496Ter	rs779958420	frameshift	-	NC_000010.11:g.89754648_89754649insT	NCI-TCGA
KIF20B	Q96Q89	p.Gln1497Glu	rs1341306872	missense variant	-	NC_000010.11:g.89754659C>G	gnomAD
KIF20B	Q96Q89	p.Gln1497Pro	rs1312985982	missense variant	-	NC_000010.11:g.89754660A>C	gnomAD
KIF20B	Q96Q89	p.Asn1499Ser	rs191471368	missense variant	-	NC_000010.11:g.89754666A>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1500Lys	rs747725874	missense variant	-	NC_000010.11:g.89754668G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1502Lys	rs1433457970	missense variant	-	NC_000010.11:g.89758706G>A	gnomAD
KIF20B	Q96Q89	p.Leu1504Pro	rs751407460	missense variant	-	NC_000010.11:g.89758713T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1505Ala	rs373622507	missense variant	-	NC_000010.11:g.89758715A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1506Ser	rs781212813	missense variant	-	NC_000010.11:g.89758718G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln1507His	rs747590327	missense variant	-	NC_000010.11:g.89758723G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1512Gly	rs1263237328	missense variant	-	NC_000010.11:g.89758737A>G	gnomAD
KIF20B	Q96Q89	p.Ser1513Gly	rs769390762	missense variant	-	NC_000010.11:g.89758739A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1515Phe	rs543186692	missense variant	-	NC_000010.11:g.89758745C>T	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1515Val	rs543186692	missense variant	-	NC_000010.11:g.89758745C>G	1000Genomes,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1519Gln	rs749002204	missense variant	-	NC_000010.11:g.89758758G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1520Ala	rs1195171569	missense variant	-	NC_000010.11:g.89758761A>C	gnomAD
KIF20B	Q96Q89	p.Glu1520Gln	rs377664920	missense variant	-	NC_000010.11:g.89758760G>C	ESP,TOPMed
KIF20B	Q96Q89	p.Glu1521Gly	rs1254215373	missense variant	-	NC_000010.11:g.89758764A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1521Gln	rs1193663750	missense variant	-	NC_000010.11:g.89758763G>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1522Gln	rs770586475	missense variant	-	NC_000010.11:g.89758767G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Ala1527Val	rs1249853998	missense variant	-	NC_000010.11:g.89758782C>T	TOPMed
KIF20B	Q96Q89	p.Glu1530Lys	rs1396486267	missense variant	-	NC_000010.11:g.89758790G>A	gnomAD
KIF20B	Q96Q89	p.Gln1532Glu	rs747420235	missense variant	-	NC_000010.11:g.89758796C>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1536Pro	rs769017488	missense variant	-	NC_000010.11:g.89758809T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1537Leu	rs777231047	missense variant	-	NC_000010.11:g.89758811A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1540Ser	rs1422085097	missense variant	-	NC_000010.11:g.89758821A>G	gnomAD
KIF20B	Q96Q89	p.Val1541Ile	rs984746275	missense variant	-	NC_000010.11:g.89758823G>A	TOPMed
KIF20B	Q96Q89	p.Gln1542Ter	rs1442063256	stop gained	-	NC_000010.11:g.89758826C>T	gnomAD
KIF20B	Q96Q89	p.Lys1543Arg	rs566396878	missense variant	-	NC_000010.11:g.89758830A>G	gnomAD
KIF20B	Q96Q89	p.Asp1544GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89758833_89758839ATAATGA>-	NCI-TCGA
KIF20B	Q96Q89	p.Asn1545Lys	rs1232743418	missense variant	-	NC_000010.11:g.89758837T>G	gnomAD
KIF20B	Q96Q89	p.Glu1546Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89758840A>C	NCI-TCGA
KIF20B	Q96Q89	p.Glu1546Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89758838G>A	NCI-TCGA
KIF20B	Q96Q89	p.Ile1547Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89758843T>G	NCI-TCGA
KIF20B	Q96Q89	p.Arg1552Ser	rs761795134	missense variant	-	NC_000010.11:g.89758858G>T	ExAC
KIF20B	Q96Q89	p.Arg1552GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89758852A>-	NCI-TCGA
KIF20B	Q96Q89	p.Ile1554Met	rs1036171550	missense variant	-	NC_000010.11:g.89758864A>G	gnomAD
KIF20B	Q96Q89	p.Ile1554Thr	rs146822498	missense variant	-	NC_000010.11:g.89758863T>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1558Phe	COSM3441440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89758875C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ser1558Cys	rs1254606678	missense variant	-	NC_000010.11:g.89758875C>G	gnomAD
KIF20B	Q96Q89	p.Ile1560Thr	rs34785987	missense variant	-	NC_000010.11:g.89758881T>C	1000Genomes,ESP,TOPMed
KIF20B	Q96Q89	p.Thr1562Ile	rs748629781	missense variant	-	NC_000010.11:g.89760530C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1563Arg	rs777360606	missense variant	-	NC_000010.11:g.89760533A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Gln1563Pro	rs777360606	missense variant	-	NC_000010.11:g.89760533A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1564Thr	rs763150244	missense variant	-	NC_000010.11:g.89760536T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1564Val	rs773387834	missense variant	-	NC_000010.11:g.89760535A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Met1565Val	rs774674676	missense variant	-	NC_000010.11:g.89760538A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1566Gly	rs767407693	missense variant	-	NC_000010.11:g.89760542A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1566Tyr	rs200556371	missense variant	-	NC_000010.11:g.89760541G>T	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1567Val	rs143700194	missense variant	-	NC_000010.11:g.89760544A>G	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1570Gln	rs1243751032	missense variant	-	NC_000010.11:g.89760553A>C	gnomAD
KIF20B	Q96Q89	p.Arg1571His	rs753320982	missense variant	-	NC_000010.11:g.89760557G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1571Cys	rs764038459	missense variant	-	NC_000010.11:g.89760556C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1574Pro	rs756795355	missense variant	-	NC_000010.11:g.89760565T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1574Leu	rs778528212	missense variant	-	NC_000010.11:g.89760566C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1576Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89760571G>T	NCI-TCGA
KIF20B	Q96Q89	p.Pro1577Arg	rs1485711702	missense variant	-	NC_000010.11:g.89760575C>G	gnomAD
KIF20B	Q96Q89	p.Asp1578Gly	rs371471387	missense variant	-	NC_000010.11:g.89760578A>G	ESP,ExAC,TOPMed
KIF20B	Q96Q89	p.Asp1578Glu	rs1190772602	missense variant	-	NC_000010.11:g.89760579C>G	gnomAD
KIF20B	Q96Q89	p.Lys1579Gln	rs567515372	missense variant	-	NC_000010.11:g.89760580A>C	1000Genomes
KIF20B	Q96Q89	p.Leu1580Phe	rs1400076532	missense variant	-	NC_000010.11:g.89760583C>T	TOPMed
KIF20B	Q96Q89	p.Thr1582Ile	rs1171719423	missense variant	-	NC_000010.11:g.89760590C>T	TOPMed
KIF20B	Q96Q89	p.Leu1585Pro	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89760599T>C	NCI-TCGA
KIF20B	Q96Q89	p.Ser1586Leu	rs748491739	missense variant	-	NC_000010.11:g.89760602C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Phe1589Tyr	rs117258675	missense variant	-	NC_000010.11:g.89760611T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1590Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89760614A>T	NCI-TCGA
KIF20B	Q96Q89	p.Asn1594Lys	rs749349671	missense variant	-	NC_000010.11:g.89760627T>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1596Leu	rs771205502	missense variant	-	NC_000010.11:g.89760631A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1598Val	rs768494378	missense variant	-	NC_000010.11:g.89762639A>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1598Gly	rs768494378	missense variant	-	NC_000010.11:g.89762639A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Val1601Ile	rs952018066	missense variant	-	NC_000010.11:g.89762647G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Val1601Ala	rs140933422	missense variant	-	NC_000010.11:g.89762648T>C	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1603Phe	rs765115896	missense variant	-	NC_000010.11:g.89762653C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1604Val	rs764084518	missense variant	-	NC_000010.11:g.89762657A>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys1606Trp	rs1253967842	missense variant	-	NC_000010.11:g.89762664T>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Glu1611Lys	rs1269940217	missense variant	-	NC_000010.11:g.89762677G>A	TOPMed
KIF20B	Q96Q89	p.Asn1612Asp	rs1455756231	missense variant	-	NC_000010.11:g.89762680A>G	gnomAD
KIF20B	Q96Q89	p.Gln1614His	rs1424629660	missense variant	-	NC_000010.11:g.89762688A>C	gnomAD
KIF20B	Q96Q89	p.Gln1614Arg	rs751324087	missense variant	-	NC_000010.11:g.89762687A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1617Ter	rs1159808784	stop gained	-	NC_000010.11:g.89762695C>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1617Gln	rs756536781	missense variant	-	NC_000010.11:g.89762696G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro1619Arg	rs982597098	missense variant	-	NC_000010.11:g.89762702C>G	gnomAD
KIF20B	Q96Q89	p.Ile1625Val	COSM4929221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89762719A>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Gln1626His	rs142595855	missense variant	-	NC_000010.11:g.89762724A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1631Ter	rs1394878786	stop gained	-	NC_000010.11:g.89762737C>T	gnomAD
KIF20B	Q96Q89	p.Pro1632Ala	rs1272716608	missense variant	-	NC_000010.11:g.89762740C>G	gnomAD
KIF20B	Q96Q89	p.Pro1632Ser	rs1272716608	missense variant	-	NC_000010.11:g.89762740C>T	gnomAD
KIF20B	Q96Q89	p.Asn1633Asp	rs757801434	missense variant	-	NC_000010.11:g.89762743A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1633Ile	rs984762974	missense variant	-	NC_000010.11:g.89762744A>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1633Ser	rs984762974	missense variant	-	NC_000010.11:g.89762744A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1634Glu	rs373911396	missense variant	-	NC_000010.11:g.89762746A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1634Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89762747A>G	NCI-TCGA
KIF20B	Q96Q89	p.Met1635Arg	rs758470528	missense variant	-	NC_000010.11:g.89762750T>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Met1635Val	rs745927589	missense variant	-	NC_000010.11:g.89762749A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Met1635Thr	rs758470528	missense variant	-	NC_000010.11:g.89762750T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1636Ser	rs201324774	missense variant	-	NC_000010.11:g.89762752G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1636Thr	rs201324774	missense variant	-	NC_000010.11:g.89762752G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.His1639Gln	rs574555372	missense variant	-	NC_000010.11:g.89762763C>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Pro1640Ser	rs757096168	missense variant	-	NC_000010.11:g.89762764C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro1640Arg	rs368820868	missense variant	-	NC_000010.11:g.89762765C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gly1641Cys	rs773064916	missense variant	-	NC_000010.11:g.89762767G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Cys1642Arg	rs1409789695	missense variant	-	NC_000010.11:g.89762770T>C	gnomAD
KIF20B	Q96Q89	p.Thr1644Pro	rs1471579363	missense variant	-	NC_000010.11:g.89762776A>C	TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1644Ala	rs1471579363	missense variant	-	NC_000010.11:g.89762776A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1644Arg	rs372743403	missense variant	-	NC_000010.11:g.89762777C>G	ESP,TOPMed
KIF20B	Q96Q89	p.Pro1645Leu	rs1201618668	missense variant	-	NC_000010.11:g.89762780C>T	TOPMed
KIF20B	Q96Q89	p.Lys1649Glu	rs34354493	missense variant	-	NC_000010.11:g.89762791A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1649Asn	rs1202215706	missense variant	-	NC_000010.11:g.89762793G>T	TOPMed
KIF20B	Q96Q89	p.Ile1650Asn	rs1348969834	missense variant	-	NC_000010.11:g.89762795T>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1652Arg	rs143235231	missense variant	-	NC_000010.11:g.89762801A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1653Pro	rs759202813	missense variant	-	NC_000010.11:g.89762803G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Ala1653GlyPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000010.11:g.89762803_89762804insGAGGAGGCTGAGAT	NCI-TCGA
KIF20B	Q96Q89	p.Arg1654Trp	rs376655083	missense variant	-	NC_000010.11:g.89762806C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1654Gln	rs115570983	missense variant	-	NC_000010.11:g.89762807G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1658Asn	rs757599461	missense variant	-	NC_000010.11:g.89762819G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1659Asp	rs765766934	missense variant	-	NC_000010.11:g.89762821A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1659Ser	rs750945434	missense variant	-	NC_000010.11:g.89762822A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Glu1660Lys	rs1452489521	missense variant	-	NC_000010.11:g.89762824G>A	TOPMed
KIF20B	Q96Q89	p.Met1661Val	rs1482768910	missense variant	-	NC_000010.11:g.89762827A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Met1661Ile	rs1224912389	missense variant	-	NC_000010.11:g.89762829G>A	gnomAD
KIF20B	Q96Q89	p.Asp1664Gly	rs1213187988	missense variant	-	NC_000010.11:g.89768291A>G	TOPMed
KIF20B	Q96Q89	p.Leu1665Val	rs1447403733	missense variant	-	NC_000010.11:g.89768293T>G	gnomAD
KIF20B	Q96Q89	p.Val1666Ala	rs1210393218	missense variant	-	NC_000010.11:g.89768297T>C	gnomAD
KIF20B	Q96Q89	p.Lys1667Asn	rs751615287	missense variant	-	NC_000010.11:g.89768301A>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1670Lys	rs755091040	missense variant	-	NC_000010.11:g.89768310T>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1671Gln	rs1378929667	missense variant	-	NC_000010.11:g.89768311A>C	gnomAD
KIF20B	Q96Q89	p.Lys1671Arg	rs781388195	missense variant	-	NC_000010.11:g.89768312A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1672Arg	rs376717572	missense variant	-	NC_000010.11:g.89768315A>G	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Thr1675Ala	rs1468953564	missense variant	-	NC_000010.11:g.89768323A>G	TOPMed
KIF20B	Q96Q89	p.Pro1676Ser	COSM4898152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89768326C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Arg1677Thr	rs201898545	missense variant	-	NC_000010.11:g.89768330G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1677Ile	rs201898545	missense variant	-	NC_000010.11:g.89768330G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1677Gly	rs1015551557	missense variant	-	NC_000010.11:g.89768329A>G	TOPMed
KIF20B	Q96Q89	p.Thr1678Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89768333C>G	NCI-TCGA
KIF20B	Q96Q89	p.Leu1680Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89768340G>T	NCI-TCGA
KIF20B	Q96Q89	p.Lys1681Asn	rs775151632	missense variant	-	NC_000010.11:g.89768343A>C	ExAC
KIF20B	Q96Q89	p.Lys1681Arg	rs1373765390	missense variant	-	NC_000010.11:g.89768342A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro1683Arg	rs373257085	missense variant	-	NC_000010.11:g.89768348C>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Pro1683Ser	COSM3441442	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89768347C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Pro1683Ala	rs1187005890	missense variant	-	NC_000010.11:g.89768347C>G	TOPMed
KIF20B	Q96Q89	p.Ile1684Val	rs768384923	missense variant	-	NC_000010.11:g.89768350A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser1685Ter	rs1280171802	stop gained	-	NC_000010.11:g.89768354C>A	gnomAD
KIF20B	Q96Q89	p.Asp1686Tyr	rs773398410	missense variant	-	NC_000010.11:g.89768356G>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Asp1687Gly	rs763423034	missense variant	-	NC_000010.11:g.89768360A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Asn1689Asp	rs1464272867	missense variant	-	NC_000010.11:g.89768365A>G	gnomAD
KIF20B	Q96Q89	p.Ser1690Phe	COSM3791023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89768369C>T	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys1693Arg	rs1197571196	missense variant	-	NC_000010.11:g.89768378A>G	gnomAD
KIF20B	Q96Q89	p.Glu1695GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89768376_89768377insA	NCI-TCGA
KIF20B	Q96Q89	p.Val1698Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89768738G>A	NCI-TCGA
KIF20B	Q96Q89	p.Ala1699Val	rs763223975	missense variant	-	NC_000010.11:g.89768742C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1700Met	rs546317045	missense variant	-	NC_000010.11:g.89768746A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1700Lys	COSM3807959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89768745T>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ile1700Val	rs1396472277	missense variant	-	NC_000010.11:g.89768744A>G	gnomAD
KIF20B	Q96Q89	p.Arg1701Cys	rs12413968	missense variant	-	NC_000010.11:g.89768747C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1701His	rs759971040	missense variant	-	NC_000010.11:g.89768748G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1705Gln	rs764195712	missense variant	-	NC_000010.11:g.89768759A>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1705Glu	rs764195712	missense variant	-	NC_000010.11:g.89768759A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1705Thr	COSM466069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89768760A>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Lys1706Glu	rs754143638	missense variant	-	NC_000010.11:g.89768762A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1707Ala	rs757562183	missense variant	-	NC_000010.11:g.89768765A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ser1709Tyr	rs1031277703	missense variant	-	NC_000010.11:g.89768772C>A	TOPMed
KIF20B	Q96Q89	p.Arg1711Trp	rs148623215	missense variant	-	NC_000010.11:g.89768777C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1711Gln	rs758361205	missense variant	-	NC_000010.11:g.89768778G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1711Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89768778G>T	NCI-TCGA
KIF20B	Q96Q89	p.Gln1713Pro	rs1168065833	missense variant	-	NC_000010.11:g.89768784A>C	gnomAD
KIF20B	Q96Q89	p.Gln1713Arg	rs1168065833	missense variant	-	NC_000010.11:g.89768784A>G	gnomAD
KIF20B	Q96Q89	p.Gln1713Glu	rs1428026468	missense variant	-	NC_000010.11:g.89768783C>G	gnomAD
KIF20B	Q96Q89	p.Ala1714Pro	rs780086166	missense variant	-	NC_000010.11:g.89768786G>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1715Ala	rs746470352	missense variant	-	NC_000010.11:g.89768789T>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1716Thr	rs142040916	missense variant	-	NC_000010.11:g.89768793T>C	ESP,ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1716Val	rs1260281879	missense variant	-	NC_000010.11:g.89768792A>G	TOPMed
KIF20B	Q96Q89	p.Ile1716Met	COSM921334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89768794A>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Ile1717Met	rs528668353	missense variant	-	NC_000010.11:g.89768797T>G	1000Genomes
KIF20B	Q96Q89	p.Val1719Ala	rs780696522	missense variant	-	NC_000010.11:g.89768802T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Val1719Ile	rs895383251	missense variant	-	NC_000010.11:g.89768801G>A	TOPMed
KIF20B	Q96Q89	p.Asn1720Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89768806C>A	NCI-TCGA
KIF20B	Q96Q89	p.Thr1723Ser	rs1298011216	missense variant	-	NC_000010.11:g.89768813A>T	gnomAD
KIF20B	Q96Q89	p.Glu1727Lys	rs1296232866	missense variant	-	NC_000010.11:g.89768825G>A	gnomAD
KIF20B	Q96Q89	p.Thr1729Ile	rs1442268474	missense variant	-	NC_000010.11:g.89768832C>T	gnomAD
KIF20B	Q96Q89	p.Thr1729Ala	rs771181894	missense variant	-	NC_000010.11:g.89768831A>G	TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1731His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89768839G>T	NCI-TCGA
KIF20B	Q96Q89	p.Lys1732Gln	COSM4016549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89768840A>C	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Asp1735Gly	rs921186546	missense variant	-	NC_000010.11:g.89768850A>G	TOPMed
KIF20B	Q96Q89	p.Gln1738Glu	rs772549830	missense variant	-	NC_000010.11:g.89768858C>G	ExAC,gnomAD
KIF20B	Q96Q89	p.His1739Arg	rs776108059	missense variant	-	NC_000010.11:g.89768862A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.His1739Tyr	rs1250239697	missense variant	-	NC_000010.11:g.89768861C>T	gnomAD
KIF20B	Q96Q89	p.Pro1741Leu	rs1188158080	missense variant	-	NC_000010.11:g.89768868C>T	gnomAD
KIF20B	Q96Q89	p.Ile1743Val	rs1322714331	missense variant	-	NC_000010.11:g.89768873A>G	TOPMed
KIF20B	Q96Q89	p.Gln1745Leu	rs1325054690	missense variant	-	NC_000010.11:g.89768880A>T	gnomAD
KIF20B	Q96Q89	p.Ser1746Ala	rs764172829	missense variant	-	NC_000010.11:g.89768882T>G	ExAC
KIF20B	Q96Q89	p.Ser1746Leu	rs370718991	missense variant	-	NC_000010.11:g.89768883C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1747Glu	rs146273081	missense variant	-	NC_000010.11:g.89768885A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1747Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89768887A>T	NCI-TCGA
KIF20B	Q96Q89	p.Lys1750Asn	rs769072412	missense variant	-	NC_000010.11:g.89772696G>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1750Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89772694A>C	NCI-TCGA
KIF20B	Q96Q89	p.Ile1751Val	rs1028258912	missense variant	-	NC_000010.11:g.89772697A>G	gnomAD
KIF20B	Q96Q89	p.Ile1751Met	rs201409025	missense variant	-	NC_000010.11:g.89772699A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1752Val	rs1367562995	missense variant	-	NC_000010.11:g.89772700A>G	gnomAD
KIF20B	Q96Q89	p.Ile1752Thr	rs1187927154	missense variant	-	NC_000010.11:g.89772701T>C	TOPMed
KIF20B	Q96Q89	p.Thr1754Ala	rs573851095	missense variant	-	NC_000010.11:g.89772706A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Met1755Leu	rs1005747354	missense variant	-	NC_000010.11:g.89772709A>T	TOPMed
KIF20B	Q96Q89	p.Ser1756Asn	rs1366281915	missense variant	-	NC_000010.11:g.89772713G>A	gnomAD
KIF20B	Q96Q89	p.Ser1756Gly	rs150319847	missense variant	-	NC_000010.11:g.89772712A>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Ser1757Pro	rs762828334	missense variant	-	NC_000010.11:g.89772715T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ser1757Phe	rs1271964118	missense variant	-	NC_000010.11:g.89772716C>T	TOPMed
KIF20B	Q96Q89	p.Lys1759Glu	rs1327571015	missense variant	-	NC_000010.11:g.89772721A>G	gnomAD
KIF20B	Q96Q89	p.Leu1760His	rs1196191921	missense variant	-	NC_000010.11:g.89772725T>A	TOPMed
KIF20B	Q96Q89	p.Ser1761Ala	rs751317141	missense variant	-	NC_000010.11:g.89772727T>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Asn1762His	rs1291339298	missense variant	-	NC_000010.11:g.89772730A>C	TOPMed
KIF20B	Q96Q89	p.Glu1764Gly	rs767379483	missense variant	-	NC_000010.11:g.89772737A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Ala1765Gly	rs1232665100	missense variant	-	NC_000010.11:g.89772740C>G	TOPMed
KIF20B	Q96Q89	p.Ser1766Gly	rs139378013	missense variant	-	NC_000010.11:g.89772742A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Lys1767Thr	rs777401726	missense variant	-	NC_000010.11:g.89772746A>C	ExAC
KIF20B	Q96Q89	p.Asn1769Ser	rs1253849494	missense variant	-	NC_000010.11:g.89772752A>G	gnomAD
KIF20B	Q96Q89	p.Gln1772Leu	rs368329596	missense variant	-	NC_000010.11:g.89772761A>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1772Glu	rs1286037544	missense variant	-	NC_000010.11:g.89772760C>G	TOPMed
KIF20B	Q96Q89	p.Pro1773Ser	rs780423330	missense variant	-	NC_000010.11:g.89772763C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Pro1773Arg	rs1354193806	missense variant	-	NC_000010.11:g.89772764C>G	TOPMed
KIF20B	Q96Q89	p.Arg1775Gln	rs769182388	missense variant	-	NC_000010.11:g.89772770G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ala1776Pro	rs781774112	missense variant	-	NC_000010.11:g.89772772G>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Lys1777Arg	COSM1349734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89772776A>G	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Arg1778Gln	rs146495295	missense variant	-	NC_000010.11:g.89772779G>A	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1778Trp	rs1009246322	missense variant	-	NC_000010.11:g.89772778C>T	TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1780Ser	rs770056634	missense variant	-	NC_000010.11:g.89772785T>C	ExAC,gnomAD
KIF20B	Q96Q89	p.Tyr1781Phe	rs1285160504	missense variant	-	NC_000010.11:g.89772788A>T	gnomAD
KIF20B	Q96Q89	p.Tyr1781Asn	rs773439094	missense variant	-	NC_000010.11:g.89772787T>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Tyr1781Cys	rs1285160504	missense variant	-	NC_000010.11:g.89772788A>G	gnomAD
KIF20B	Q96Q89	p.Tyr1781His	rs773439094	missense variant	-	NC_000010.11:g.89772787T>C	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1782Ala	rs763169833	missense variant	-	NC_000010.11:g.89772790A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Pro1788Thr	rs771091686	missense variant	-	NC_000010.11:g.89772808C>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Pro1788Ser	rs771091686	missense variant	-	NC_000010.11:g.89772808C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Pro1788Leu	rs774148398	missense variant	-	NC_000010.11:g.89772809C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Ile1789Val	rs3758390	missense variant	-	NC_000010.11:g.89772811A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1789Thr	rs954123145	missense variant	-	NC_000010.11:g.89772812T>C	TOPMed
KIF20B	Q96Q89	p.Asp1790Val	rs140984225	missense variant	-	NC_000010.11:g.89772815A>T	ESP
KIF20B	Q96Q89	p.Ile1791Thr	rs1180920788	missense variant	-	NC_000010.11:g.89772818T>C	gnomAD
KIF20B	Q96Q89	p.Ile1791Lys	rs1180920788	missense variant	-	NC_000010.11:g.89772818T>A	gnomAD
KIF20B	Q96Q89	p.Ile1791Val	rs150021584	missense variant	-	NC_000010.11:g.89772817A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1791Met	rs752701199	missense variant	-	NC_000010.11:g.89772819A>G	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gly1793Ser	rs201320327	missense variant	-	NC_000010.11:g.89772823G>A	1000Genomes
KIF20B	Q96Q89	p.Gly1793Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.89772824G>A	NCI-TCGA
KIF20B	Q96Q89	p.Val1795Met	rs145242589	missense variant	-	NC_000010.11:g.89772829G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Val1795Gly	rs571567275	missense variant	-	NC_000010.11:g.89772830T>G	1000Genomes,ExAC,gnomAD
KIF20B	Q96Q89	p.Gln1800Arg	rs376533308	missense variant	-	NC_000010.11:g.89773984A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Gln1800His	rs1271315936	missense variant	-	NC_000010.11:g.89773985G>C	TOPMed
KIF20B	Q96Q89	p.Lys1801Glu	rs758082529	missense variant	-	NC_000010.11:g.89773986A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.His1807Gln	rs753144923	missense variant	-	NC_000010.11:g.89774006C>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ile1809Leu	rs1286112721	missense variant	-	NC_000010.11:g.89774010A>C	TOPMed
KIF20B	Q96Q89	p.Lys1811Arg	rs756642620	missense variant	-	NC_000010.11:g.89774017A>G	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1812Ter	rs778476119	stop gained	-	NC_000010.11:g.89774019C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1812Gln	rs1325967536	missense variant	-	NC_000010.11:g.89774020G>A	TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1813Gln	rs757350037	missense variant	-	NC_000010.11:g.89774023G>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1813Ter	rs372021958	stop gained	-	NC_000010.11:g.89774022C>T	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Leu1814Phe	rs779186213	missense variant	-	NC_000010.11:g.89774025C>T	ExAC,gnomAD
KIF20B	Q96Q89	p.Arg1815Ter	rs202099671	stop gained	-	NC_000010.11:g.89774028C>T	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Arg1815Gln	COSM198308	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.89774029G>A	NCI-TCGA Cosmic
KIF20B	Q96Q89	p.Thr1818Lys	rs772307724	missense variant	-	NC_000010.11:g.89774038C>A	ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Thr1818GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89774033A>-	NCI-TCGA
KIF20B	Q96Q89	p.Thr1818AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.89774032_89774033insA	NCI-TCGA
KIF20B	Q96Q89	p.Ala1819Thr	rs775213487	missense variant	-	NC_000010.11:g.89774040G>A	ExAC,gnomAD
KIF20B	Q96Q89	p.Ala1819Val	rs962046645	missense variant	-	NC_000010.11:g.89774041C>T	TOPMed
KIF20B	Q96Q89	p.Lys1820Glu	rs375603161	missense variant	-	NC_000010.11:g.89774043A>G	ESP,ExAC,TOPMed,gnomAD
KIF20B	Q96Q89	p.Ter1821Unk	rs1245786437	stop lost	-	NC_000010.11:g.89774046del	gnomAD
KIF20B	Q96Q89	p.Ter1821Tyr	rs1446026362	stop lost	-	NC_000010.11:g.89774048A>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly8Cys	rs1219238128	missense variant	-	NC_000016.10:g.1614661G>T	gnomAD
CRAMP1	Q96RY5	p.Glu12Lys	rs971145177	missense variant	-	NC_000016.10:g.1614673G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu12Asp	rs1187084243	missense variant	-	NC_000016.10:g.1614675G>T	gnomAD
CRAMP1	Q96RY5	p.Asp13Glu	rs980268947	missense variant	-	NC_000016.10:g.1614678C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu18Val	rs755456226	missense variant	-	NC_000016.10:g.1614691C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly19Ala	rs926923881	missense variant	-	NC_000016.10:g.1614695G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly19Asp	rs926923881	missense variant	-	NC_000016.10:g.1614695G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg21Gly	rs1470687329	missense variant	-	NC_000016.10:g.1614700C>G	gnomAD
CRAMP1	Q96RY5	p.Arg21Pro	rs1394012662	missense variant	-	NC_000016.10:g.1614701G>C	TOPMed
CRAMP1	Q96RY5	p.Arg21Trp	rs1470687329	missense variant	-	NC_000016.10:g.1614700C>T	gnomAD
CRAMP1	Q96RY5	p.Glu26Asp	rs1387828253	missense variant	-	NC_000016.10:g.1614717G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu29Lys	rs1320200243	missense variant	-	NC_000016.10:g.1614724G>A	gnomAD
CRAMP1	Q96RY5	p.Gly34Ser	rs1286586315	missense variant	-	NC_000016.10:g.1614739G>A	TOPMed
CRAMP1	Q96RY5	p.Gly35Ser	rs1343092066	missense variant	-	NC_000016.10:g.1614742G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp37Asn	rs957076005	missense variant	-	NC_000016.10:g.1614748G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp37Tyr	rs957076005	missense variant	-	NC_000016.10:g.1614748G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala38Val	rs1281129131	missense variant	-	NC_000016.10:g.1614752C>T	TOPMed
CRAMP1	Q96RY5	p.Ala39Gly	rs1234857064	missense variant	-	NC_000016.10:g.1614755C>G	TOPMed
CRAMP1	Q96RY5	p.Glu41Ala	rs1349986954	missense variant	-	NC_000016.10:g.1614761A>C	TOPMed
CRAMP1	Q96RY5	p.Gly44Val	rs1268155436	missense variant	-	NC_000016.10:g.1614770G>T	TOPMed
CRAMP1	Q96RY5	p.Gly44Asp	rs1268155436	missense variant	-	NC_000016.10:g.1614770G>A	TOPMed
CRAMP1	Q96RY5	p.Lys46Thr	rs1326855765	missense variant	-	NC_000016.10:g.1614776A>C	TOPMed
CRAMP1	Q96RY5	p.Arg47Ser	rs758590705	missense variant	-	NC_000016.10:g.1614780G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp48Asn	rs1412544135	missense variant	-	NC_000016.10:g.1614781G>A	TOPMed
CRAMP1	Q96RY5	p.Glu49Gly	rs1374263754	missense variant	-	NC_000016.10:g.1614785A>G	TOPMed
CRAMP1	Q96RY5	p.Glu49Ter	rs1193029475	stop gained	-	NC_000016.10:g.1614784G>T	gnomAD
CRAMP1	Q96RY5	p.Thr51Asn	rs778126645	missense variant	-	NC_000016.10:g.1614791C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro52Leu	rs1199511068	missense variant	-	NC_000016.10:g.1614794C>T	gnomAD
CRAMP1	Q96RY5	p.Pro52Ala	rs1481180447	missense variant	-	NC_000016.10:g.1614793C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala54Thr	rs1244264287	missense variant	-	NC_000016.10:g.1614799G>A	TOPMed
CRAMP1	Q96RY5	p.Gly55Ser	rs1455173074	missense variant	-	NC_000016.10:g.1614802G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala56Val	rs770853672	missense variant	-	NC_000016.10:g.1614806C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp57Asn	rs1404587625	missense variant	-	NC_000016.10:g.1614808G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly58Cys	rs1258251649	missense variant	-	NC_000016.10:g.1614811G>T	TOPMed
CRAMP1	Q96RY5	p.Pro59Ser	rs1343888012	missense variant	-	NC_000016.10:g.1614814C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro60Ser	rs776510604	missense variant	-	NC_000016.10:g.1614817C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro60Ala	rs776510604	missense variant	-	NC_000016.10:g.1614817C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala61Thr	rs1049843132	missense variant	-	NC_000016.10:g.1614820G>A	TOPMed
CRAMP1	Q96RY5	p.Pro62Thr	rs1350015646	missense variant	-	NC_000016.10:g.1614823C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro62Leu	rs1007968040	missense variant	-	NC_000016.10:g.1614824C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro62His	rs1007968040	missense variant	-	NC_000016.10:g.1614824C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro62Ser	rs1350015646	missense variant	-	NC_000016.10:g.1614823C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly64Ser	rs1281811404	missense variant	-	NC_000016.10:g.1614829G>A	gnomAD
CRAMP1	Q96RY5	p.Ala68Val	rs189020189	missense variant	-	NC_000016.10:g.1614842C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser70Phe	rs971976818	missense variant	-	NC_000016.10:g.1614848C>T	TOPMed
CRAMP1	Q96RY5	p.Pro72Leu	rs1232439679	missense variant	-	NC_000016.10:g.1614854C>T	TOPMed
CRAMP1	Q96RY5	p.Ser75Asn	rs1203663202	missense variant	-	NC_000016.10:g.1614863G>A	TOPMed
CRAMP1	Q96RY5	p.Pro76Ser	rs1001291682	missense variant	-	NC_000016.10:g.1614865C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln77Arg	rs1259707658	missense variant	-	NC_000016.10:g.1614869A>G	TOPMed
CRAMP1	Q96RY5	p.His81Arg	rs1211558311	missense variant	-	NC_000016.10:g.1614881A>G	TOPMed
CRAMP1	Q96RY5	p.Arg84Leu	rs1250582415	missense variant	-	NC_000016.10:g.1614890G>T	gnomAD
CRAMP1	Q96RY5	p.Ser86Asn	rs1364337672	missense variant	-	NC_000016.10:g.1614896G>A	gnomAD
CRAMP1	Q96RY5	p.Ser86Arg	rs1034098447	missense variant	-	NC_000016.10:g.1614895A>C	TOPMed
CRAMP1	Q96RY5	p.Val87Ala	rs1472395272	missense variant	-	NC_000016.10:g.1614899T>C	gnomAD
CRAMP1	Q96RY5	p.Arg88Trp	rs1161248304	missense variant	-	NC_000016.10:g.1614901C>T	gnomAD
CRAMP1	Q96RY5	p.Gln90His	rs1304036157	missense variant	-	NC_000016.10:g.1614909G>T	gnomAD
CRAMP1	Q96RY5	p.Ser91Gly	rs774899859	missense variant	-	NC_000016.10:g.1614910A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro94Leu	rs957023853	missense variant	-	NC_000016.10:g.1614920C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro94His	rs957023853	missense variant	-	NC_000016.10:g.1614920C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg95Gly	rs1336875615	missense variant	-	NC_000016.10:g.1614922A>G	gnomAD
CRAMP1	Q96RY5	p.Arg95Lys	rs762499648	missense variant	-	NC_000016.10:g.1614923G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys96Arg	rs1362097385	missense variant	-	NC_000016.10:g.1614926A>G	gnomAD
CRAMP1	Q96RY5	p.Lys96Glu	rs1313536828	missense variant	-	NC_000016.10:g.1614925A>G	gnomAD
CRAMP1	Q96RY5	p.Pro98Ser	rs1273510180	missense variant	-	NC_000016.10:g.1614931C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro98His	rs1481843454	missense variant	-	NC_000016.10:g.1614932C>A	gnomAD
CRAMP1	Q96RY5	p.Pro99Arg	rs1441332624	missense variant	-	NC_000016.10:g.1614935C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro99Gln	rs1441332624	missense variant	-	NC_000016.10:g.1614935C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro99Thr	rs1250533440	missense variant	-	NC_000016.10:g.1614934C>A	gnomAD
CRAMP1	Q96RY5	p.Pro99Leu	rs1441332624	missense variant	-	NC_000016.10:g.1614935C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser100Asn	rs761391734	missense variant	-	NC_000016.10:g.1614938G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser100Ile	rs761391734	missense variant	-	NC_000016.10:g.1614938G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala101Val	rs766748223	missense variant	-	NC_000016.10:g.1614941C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala101Thr	rs1386992172	missense variant	-	NC_000016.10:g.1614940G>A	gnomAD
CRAMP1	Q96RY5	p.Val102Ala	rs959779059	missense variant	-	NC_000016.10:g.1614944T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly103Val	rs1466295769	missense variant	-	NC_000016.10:g.1614947G>T	gnomAD
CRAMP1	Q96RY5	p.Ala107Asp	rs867649752	missense variant	-	NC_000016.10:g.1614959C>A	TOPMed
CRAMP1	Q96RY5	p.Ala107Gly	rs867649752	missense variant	-	NC_000016.10:g.1614959C>G	TOPMed
CRAMP1	Q96RY5	p.Ser110Leu	rs1189367719	missense variant	-	NC_000016.10:g.1614968C>T	gnomAD
CRAMP1	Q96RY5	p.Gly111Ala	rs1241675039	missense variant	-	NC_000016.10:g.1614971G>C	gnomAD
CRAMP1	Q96RY5	p.Gly114Val	rs1273580901	missense variant	-	NC_000016.10:g.1614980G>T	TOPMed
CRAMP1	Q96RY5	p.Gly119Asp	rs573480682	missense variant	-	NC_000016.10:g.1625982G>A	1000Genomes
CRAMP1	Q96RY5	p.Gly119Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1625981G>A	NCI-TCGA
CRAMP1	Q96RY5	p.Gly120Val	rs150953427	missense variant	-	NC_000016.10:g.1625985G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser123Trp	rs773796360	missense variant	-	NC_000016.10:g.1625994C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser123Leu	rs773796360	missense variant	-	NC_000016.10:g.1625994C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn126Tyr	rs1348614428	missense variant	-	NC_000016.10:g.1626002A>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn126Ile	rs1208975775	missense variant	-	NC_000016.10:g.1626003A>T	TOPMed
CRAMP1	Q96RY5	p.Ser128Pro	rs1221081961	missense variant	-	NC_000016.10:g.1626008T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser128Phe	rs1247864332	missense variant	-	NC_000016.10:g.1626009C>T	gnomAD
CRAMP1	Q96RY5	p.Ala131Val	rs761476573	missense variant	-	NC_000016.10:g.1626018C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala134Val	rs1203917411	missense variant	-	NC_000016.10:g.1626027C>T	gnomAD
CRAMP1	Q96RY5	p.Ser139Leu	rs922040781	missense variant	-	NC_000016.10:g.1626042C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg140Cys	rs1178329467	missense variant	-	NC_000016.10:g.1626044C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg140His	rs189953736	missense variant	-	NC_000016.10:g.1626045G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser141Phe	rs904231704	missense variant	-	NC_000016.10:g.1626048C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser141Thr	rs932054082	missense variant	-	NC_000016.10:g.1626047T>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser143Pro	rs1357472024	missense variant	-	NC_000016.10:g.1626053T>C	TOPMed
CRAMP1	Q96RY5	p.Arg144Trp	rs1385486571	missense variant	-	NC_000016.10:g.1626056C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg144Gln	rs1043739025	missense variant	-	NC_000016.10:g.1626057G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu146Ile	rs1408941516	missense variant	-	NC_000016.10:g.1626062T>A	gnomAD
CRAMP1	Q96RY5	p.Gly147Arg	rs1195429403	missense variant	-	NC_000016.10:g.1626065G>A	TOPMed
CRAMP1	Q96RY5	p.Ser148Phe	rs776901191	missense variant	-	NC_000016.10:g.1626069C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly150Ser	rs759924595	missense variant	-	NC_000016.10:g.1626074G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu152Asp	rs1302237508	missense variant	-	NC_000016.10:g.1626082G>C	gnomAD
CRAMP1	Q96RY5	p.Lys157Arg	rs954424216	missense variant	-	NC_000016.10:g.1626096A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg160Trp	rs1008535036	missense variant	-	NC_000016.10:g.1626104C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr168Ala	rs1214261343	missense variant	-	NC_000016.10:g.1626128A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr168Ser	COSM4930582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1626128A>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Lys171Glu	rs1205257628	missense variant	-	NC_000016.10:g.1626137A>G	gnomAD
CRAMP1	Q96RY5	p.Lys171Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1626139G>T	NCI-TCGA
CRAMP1	Q96RY5	p.Glu180Gln	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1626164G>C	NCI-TCGA
CRAMP1	Q96RY5	p.Gly182Arg	rs1481117171	missense variant	-	NC_000016.10:g.1632215G>A	gnomAD
CRAMP1	Q96RY5	p.Lys183Gln	rs768535917	missense variant	-	NC_000016.10:g.1632218A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala187Val	rs778425846	missense variant	-	NC_000016.10:g.1632231C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln189His	rs1275540838	missense variant	-	NC_000016.10:g.1632238G>C	gnomAD
CRAMP1	Q96RY5	p.Asn191Thr	rs771761990	missense variant	-	NC_000016.10:g.1632243A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asn191Ser	rs771761990	missense variant	-	NC_000016.10:g.1632243A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala193Val	rs772907182	missense variant	-	NC_000016.10:g.1632249C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys201Glu	COSM4398305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1632272A>G	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Pro202Leu	rs1284524026	missense variant	-	NC_000016.10:g.1632276C>T	gnomAD
CRAMP1	Q96RY5	p.Ala203Val	rs374087962	missense variant	-	NC_000016.10:g.1632279C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala203Gly	rs374087962	missense variant	-	NC_000016.10:g.1632279C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln211His	COSM471376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1632304G>C	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Arg213His	COSM218487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1632309G>A	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Arg213Cys	rs1447922714	missense variant	-	NC_000016.10:g.1632308C>T	gnomAD
CRAMP1	Q96RY5	p.Arg218His	COSM1202238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1632324G>A	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Arg218Cys	rs1266283755	missense variant	-	NC_000016.10:g.1632323C>T	gnomAD
CRAMP1	Q96RY5	p.His221Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1632333A>G	NCI-TCGA
CRAMP1	Q96RY5	p.Ile227Leu	rs1199446334	missense variant	-	NC_000016.10:g.1632350A>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile227Val	rs1199446334	missense variant	-	NC_000016.10:g.1632350A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp228Gly	rs374865451	missense variant	-	NC_000016.10:g.1632354A>G	ESP,TOPMed
CRAMP1	Q96RY5	p.Asp228Asn	rs767702181	missense variant	-	NC_000016.10:g.1632353G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp230Asn	rs751986801	missense variant	-	NC_000016.10:g.1632359G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp230His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1632359G>C	NCI-TCGA
CRAMP1	Q96RY5	p.His231Asn	rs756236974	missense variant	-	NC_000016.10:g.1632362C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Phe233Leu	rs754756618	missense variant	-	NC_000016.10:g.1637826T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Phe233Val	rs754756618	missense variant	-	NC_000016.10:g.1637826T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg235Gln	rs374268526	missense variant	-	NC_000016.10:g.1637833G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg235Gly	rs765227718	missense variant	-	NC_000016.10:g.1637832C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg235Ter	rs765227718	stop gained	-	NC_000016.10:g.1637832C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys238Asn	COSM6041613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1637843G>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ser241Phe	rs945205606	missense variant	-	NC_000016.10:g.1637851C>T	TOPMed
CRAMP1	Q96RY5	p.Gln242Arg	rs777373587	missense variant	-	NC_000016.10:g.1637854A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Tyr245Cys	rs1335299316	missense variant	-	NC_000016.10:g.1637863A>G	gnomAD
CRAMP1	Q96RY5	p.Gly246Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1637866G>A	NCI-TCGA
CRAMP1	Q96RY5	p.Leu247Val	rs1385499777	missense variant	-	NC_000016.10:g.1637868C>G	gnomAD
CRAMP1	Q96RY5	p.Cys249Arg	rs1299312837	missense variant	-	NC_000016.10:g.1637874T>C	TOPMed
CRAMP1	Q96RY5	p.Gly251Ser	rs749735014	missense variant	-	NC_000016.10:g.1637880G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu252Lys	rs769148788	missense variant	-	NC_000016.10:g.1637883G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg254Cys	rs1228996874	missense variant	-	NC_000016.10:g.1637889C>T	gnomAD
CRAMP1	Q96RY5	p.Lys255Glu	rs774802113	missense variant	-	NC_000016.10:g.1637892A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile257Thr	rs1201762645	missense variant	-	NC_000016.10:g.1637899T>C	gnomAD
CRAMP1	Q96RY5	p.Cys260Tyr	COSM287445	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1641139G>A	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Cys260LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.1637900_1637901insG	NCI-TCGA
CRAMP1	Q96RY5	p.Met261Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1641143G>T	NCI-TCGA
CRAMP1	Q96RY5	p.Asn265Ser	rs1163635279	missense variant	-	NC_000016.10:g.1641154A>G	TOPMed
CRAMP1	Q96RY5	p.Thr267Ala	rs188107020	missense variant	-	NC_000016.10:g.1641159A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys268Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1641163A>G	NCI-TCGA
CRAMP1	Q96RY5	p.Leu269Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1641166T>C	NCI-TCGA
CRAMP1	Q96RY5	p.Asn270Ser	rs374271727	missense variant	-	NC_000016.10:g.1641169A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln274His	rs759782717	missense variant	-	NC_000016.10:g.1641182G>C	ExAC
CRAMP1	Q96RY5	p.Gln274Ter	rs1304756435	stop gained	-	NC_000016.10:g.1641180C>T	gnomAD
CRAMP1	Q96RY5	p.Val275Ile	rs765411405	missense variant	-	NC_000016.10:g.1641183G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val275Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1641184T>C	NCI-TCGA
CRAMP1	Q96RY5	p.Ala277Val	rs1266217656	missense variant	-	NC_000016.10:g.1652498C>T	gnomAD
CRAMP1	Q96RY5	p.Arg281His	rs1199539300	missense variant	-	NC_000016.10:g.1652510G>A	gnomAD
CRAMP1	Q96RY5	p.Tyr282Ter	rs768884081	stop gained	-	NC_000016.10:g.1652514C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg285Leu	rs1160174156	missense variant	-	NC_000016.10:g.1652522G>T	gnomAD
CRAMP1	Q96RY5	p.Arg285Gln	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1652522G>A	NCI-TCGA
CRAMP1	Q96RY5	p.Asn286Lys	rs1420615415	missense variant	-	NC_000016.10:g.1652526C>A	gnomAD
CRAMP1	Q96RY5	p.Arg288Gln	rs1407125732	missense variant	-	NC_000016.10:g.1652531G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala291Val	rs761679145	missense variant	-	NC_000016.10:g.1652540C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro292Ser	rs1323932458	missense variant	-	NC_000016.10:g.1652542C>T	TOPMed
CRAMP1	Q96RY5	p.Met293Val	rs1382260179	missense variant	-	NC_000016.10:g.1652545A>G	TOPMed
CRAMP1	Q96RY5	p.Leu297Val	rs1157490074	missense variant	-	NC_000016.10:g.1652557C>G	TOPMed
CRAMP1	Q96RY5	p.Lys298Asn	COSM3817316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1652562G>C	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Cys301Trp	rs772771667	missense variant	-	NC_000016.10:g.1652571C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp302Asn	rs1209863020	missense variant	-	NC_000016.10:g.1652572G>A	gnomAD
CRAMP1	Q96RY5	p.Pro303Ser	rs1272218272	missense variant	-	NC_000016.10:g.1652575C>T	gnomAD
CRAMP1	Q96RY5	p.Gly305Val	rs1322659388	missense variant	-	NC_000016.10:g.1653033G>T	gnomAD
CRAMP1	Q96RY5	p.Glu309Asp	rs536108473	missense variant	-	NC_000016.10:g.1653046A>C	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Glu309Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1653044G>A	NCI-TCGA
CRAMP1	Q96RY5	p.Asp311Asn	rs1483438987	missense variant	-	NC_000016.10:g.1653050G>A	gnomAD
CRAMP1	Q96RY5	p.Gln312His	COSM3817318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1653055G>C	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Val315Ala	rs756656583	missense variant	-	NC_000016.10:g.1653063T>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg316Pro	rs201507795	missense variant	-	NC_000016.10:g.1653066G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro318Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1653071C>A	NCI-TCGA
CRAMP1	Q96RY5	p.Pro322Ser	COSM3506475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1653083C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ile323Val	rs1480430024	missense variant	-	NC_000016.10:g.1653086A>G	gnomAD
CRAMP1	Q96RY5	p.Pro327Leu	rs1346153748	missense variant	-	NC_000016.10:g.1653099C>T	gnomAD
CRAMP1	Q96RY5	p.Arg328Gln	rs1157656622	missense variant	-	NC_000016.10:g.1653102G>A	gnomAD
CRAMP1	Q96RY5	p.Arg328Trp	rs748398208	missense variant	-	NC_000016.10:g.1653101C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala332Ser	rs777747793	missense variant	-	NC_000016.10:g.1653113G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala332Val	rs1298207578	missense variant	-	NC_000016.10:g.1653114C>T	gnomAD
CRAMP1	Q96RY5	p.Ala332Thr	rs777747793	missense variant	-	NC_000016.10:g.1653113G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala332Gly	rs1298207578	missense variant	-	NC_000016.10:g.1653114C>G	gnomAD
CRAMP1	Q96RY5	p.Trp333Ter	rs1385052695	stop gained	-	NC_000016.10:g.1653118G>A	gnomAD
CRAMP1	Q96RY5	p.Arg335Cys	rs1312581911	missense variant	-	NC_000016.10:g.1653122C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg335His	rs746775641	missense variant	-	NC_000016.10:g.1653123G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val336Met	rs1184450872	missense variant	-	NC_000016.10:g.1653125G>A	TOPMed
CRAMP1	Q96RY5	p.Gln337Ter	COSM967606	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.1653128C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ser338Thr	rs576149115	missense variant	-	NC_000016.10:g.1653132G>C	1000Genomes,gnomAD
CRAMP1	Q96RY5	p.Leu339Val	rs545225765	missense variant	-	NC_000016.10:g.1653134C>G	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln341Leu	rs776622964	missense variant	-	NC_000016.10:g.1653141A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg344Cys	rs1286915552	missense variant	-	NC_000016.10:g.1653149C>T	gnomAD
CRAMP1	Q96RY5	p.Met347Leu	rs1372513822	missense variant	-	NC_000016.10:g.1655220A>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met347Ile	COSM3817320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1655222G>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ile348Val	rs771343996	missense variant	-	NC_000016.10:g.1655223A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile348Met	rs371062747	missense variant	-	NC_000016.10:g.1655225C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val349Met	rs1310301281	missense variant	-	NC_000016.10:g.1655226G>A	gnomAD
CRAMP1	Q96RY5	p.His352Arg	rs1378628673	missense variant	-	NC_000016.10:g.1655236A>G	gnomAD
CRAMP1	Q96RY5	p.Arg353Ter	rs765813513	stop gained	-	NC_000016.10:g.1655238C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg353Gln	rs1315005647	missense variant	-	NC_000016.10:g.1655239G>A	gnomAD
CRAMP1	Q96RY5	p.Lys354Arg	rs763115931	missense variant	-	NC_000016.10:g.1655242A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys354Asn	rs764199141	missense variant	-	NC_000016.10:g.1655243G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys354Asn	rs764199141	missense variant	-	NC_000016.10:g.1655243G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val355Leu	rs891213533	missense variant	-	NC_000016.10:g.1655244G>C	TOPMed
CRAMP1	Q96RY5	p.Ser357Gly	rs1459397436	missense variant	-	NC_000016.10:g.1655250A>G	gnomAD
CRAMP1	Q96RY5	p.Leu358Val	rs757372138	missense variant	-	NC_000016.10:g.1655253C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile359Met	rs371683187	missense variant	-	NC_000016.10:g.1655258C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu360Lys	rs962654737	missense variant	-	NC_000016.10:g.1655259G>A	TOPMed
CRAMP1	Q96RY5	p.Phe361Leu	COSM967608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1655264C>A	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Lys363Met	rs1018288124	missense variant	-	NC_000016.10:g.1655269A>T	TOPMed
CRAMP1	Q96RY5	p.Gln364His	COSM6143372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1655273G>C	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Trp366Cys	rs1199449414	missense variant	-	NC_000016.10:g.1655279G>C	TOPMed
CRAMP1	Q96RY5	p.Trp366Arg	rs1302232880	missense variant	-	NC_000016.10:g.1655277T>C	gnomAD
CRAMP1	Q96RY5	p.Ala367Val	rs748863527	missense variant	-	NC_000016.10:g.1655281C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala367Thr	rs779955361	missense variant	-	NC_000016.10:g.1655280G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.His369Arg	rs777096385	missense variant	-	NC_000016.10:g.1655287A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.His369Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1655287A>T	NCI-TCGA
CRAMP1	Q96RY5	p.Val371Leu	rs1357197622	missense variant	-	NC_000016.10:g.1655292G>C	gnomAD
CRAMP1	Q96RY5	p.Arg372Gly	rs1446172327	missense variant	-	NC_000016.10:g.1655295C>G	gnomAD
CRAMP1	Q96RY5	p.Arg372Gln	rs376268761	missense variant	-	NC_000016.10:g.1655296G>A	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg372Ter	rs1446172327	stop gained	-	NC_000016.10:g.1655295C>T	gnomAD
CRAMP1	Q96RY5	p.Arg374Trp	rs749843552	missense variant	-	NC_000016.10:g.1655877C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg374Gln	rs202240948	missense variant	-	NC_000016.10:g.1655878G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr376Ile	rs774537583	missense variant	-	NC_000016.10:g.1655884C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Glu378Lys	rs991733349	missense variant	-	NC_000016.10:g.1655889G>A	TOPMed
CRAMP1	Q96RY5	p.Glu379Asp	rs1191496741	missense variant	-	NC_000016.10:g.1655894G>C	gnomAD
CRAMP1	Q96RY5	p.Arg380Gln	rs200244880	missense variant	-	NC_000016.10:g.1655896G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg380Trp	rs374369637	missense variant	-	NC_000016.10:g.1655895C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu382Arg	rs766187790	missense variant	-	NC_000016.10:g.1655902T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln383Arg	rs1362591651	missense variant	-	NC_000016.10:g.1655905A>G	gnomAD
CRAMP1	Q96RY5	p.Gln383Ter	rs1270457092	stop gained	-	NC_000016.10:g.1655904C>T	gnomAD
CRAMP1	Q96RY5	p.Asp384Tyr	rs753595082	missense variant	-	NC_000016.10:g.1655907G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser385Leu	rs942331561	missense variant	-	NC_000016.10:g.1655911C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Cys386Arg	rs1439066440	missense variant	-	NC_000016.10:g.1655913T>C	gnomAD
CRAMP1	Q96RY5	p.Ser387Phe	rs1252295610	missense variant	-	NC_000016.10:g.1655917C>T	TOPMed
CRAMP1	Q96RY5	p.Ala388Val	rs368481277	missense variant	-	NC_000016.10:g.1655920C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala388Thr	rs1013059877	missense variant	-	NC_000016.10:g.1655919G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro389Leu	rs757848793	missense variant	-	NC_000016.10:g.1655923C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Met390Leu	rs1213100086	missense variant	-	NC_000016.10:g.1655925A>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met390Ile	rs372570796	missense variant	-	NC_000016.10:g.1655927G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met390Ile	rs372570796	missense variant	-	NC_000016.10:g.1655927G>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met390Thr	rs1323027784	missense variant	-	NC_000016.10:g.1655926T>C	TOPMed
CRAMP1	Q96RY5	p.Gln391Leu	rs780606038	missense variant	-	NC_000016.10:g.1655929A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val394Met	rs749647085	missense variant	-	NC_000016.10:g.1655937G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr395Ser	rs769342939	missense variant	-	NC_000016.10:g.1655940A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr395Ile	rs779285294	missense variant	-	NC_000016.10:g.1655941C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly401Asp	rs1031338762	missense variant	-	NC_000016.10:g.1655959G>A	TOPMed
CRAMP1	Q96RY5	p.Glu402Lys	rs771115810	missense variant	-	NC_000016.10:g.1655961G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu402Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.1655961G>T	NCI-TCGA
CRAMP1	Q96RY5	p.Leu406Val	rs139383664	missense variant	-	NC_000016.10:g.1655973C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr407Ile	rs1332959238	missense variant	-	NC_000016.10:g.1655977C>T	gnomAD
CRAMP1	Q96RY5	p.Pro408Ser	rs1335926020	missense variant	-	NC_000016.10:g.1655979C>T	gnomAD
CRAMP1	Q96RY5	p.Pro408Leu	rs186357261	missense variant	-	NC_000016.10:g.1655980C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro410Leu	rs1233878814	missense variant	-	NC_000016.10:g.1655986C>T	gnomAD
CRAMP1	Q96RY5	p.Pro410Ser	rs1357815342	missense variant	-	NC_000016.10:g.1655985C>T	gnomAD
CRAMP1	Q96RY5	p.Pro410Gln	rs1233878814	missense variant	-	NC_000016.10:g.1655986C>A	gnomAD
CRAMP1	Q96RY5	p.Gly411Asp	rs867773792	missense variant	-	NC_000016.10:g.1655989G>A	gnomAD
CRAMP1	Q96RY5	p.Val412Met	rs751080703	missense variant	-	NC_000016.10:g.1655991G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg414Cys	rs757019044	missense variant	-	NC_000016.10:g.1655997C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val415Met	rs1366834613	missense variant	-	NC_000016.10:g.1656000G>A	gnomAD
CRAMP1	Q96RY5	p.His417Gln	rs1473802660	missense variant	-	NC_000016.10:g.1656008C>A	gnomAD
CRAMP1	Q96RY5	p.Ser418Cys	rs754322290	missense variant	-	NC_000016.10:g.1656010C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys419Glu	rs1423456402	missense variant	-	NC_000016.10:g.1656012A>G	gnomAD
CRAMP1	Q96RY5	p.Phe421Val	rs1464407919	missense variant	-	NC_000016.10:g.1656018T>G	gnomAD
CRAMP1	Q96RY5	p.Phe421Ser	rs973250261	missense variant	-	NC_000016.10:g.1656019T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr423Arg	rs779282014	missense variant	-	NC_000016.10:g.1656025C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr423Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1656024A>G	NCI-TCGA
CRAMP1	Q96RY5	p.Val424Leu	rs371073011	missense variant	-	NC_000016.10:g.1656027G>T	ESP
CRAMP1	Q96RY5	p.Trp426Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.1656035G>A	NCI-TCGA
CRAMP1	Q96RY5	p.Gln427Ter	rs1207627052	stop gained	-	NC_000016.10:g.1656036C>T	TOPMed
CRAMP1	Q96RY5	p.Glu428Gly	rs982865190	missense variant	-	NC_000016.10:g.1656040A>G	TOPMed
CRAMP1	Q96RY5	p.Gly430Ser	rs772594351	missense variant	-	NC_000016.10:g.1656045G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg431Trp	rs747072572	missense variant	-	NC_000016.10:g.1656048C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg431Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1656049G>T	NCI-TCGA
CRAMP1	Q96RY5	p.Arg431ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.1656046_1656047insC	NCI-TCGA
CRAMP1	Q96RY5	p.Ser435Gly	rs1220374514	missense variant	-	NC_000016.10:g.1656060A>G	gnomAD
CRAMP1	Q96RY5	p.Ala436Val	rs960159131	missense variant	-	NC_000016.10:g.1656064C>T	gnomAD
CRAMP1	Q96RY5	p.Ala436Asp	rs960159131	missense variant	-	NC_000016.10:g.1656064C>A	gnomAD
CRAMP1	Q96RY5	p.Lys437Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1656068G>T	NCI-TCGA
CRAMP1	Q96RY5	p.Ala439Thr	rs759692870	missense variant	-	NC_000016.10:g.1656072G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala439Ser	rs759692870	missense variant	-	NC_000016.10:g.1656072G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val441Met	rs571857474	missense variant	-	NC_000016.10:g.1656078G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val441Leu	rs571857474	missense variant	-	NC_000016.10:g.1656078G>C	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro444Ser	rs534427089	missense variant	-	NC_000016.10:g.1656087C>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala445Gly	rs773972940	missense variant	-	NC_000016.10:g.1656091C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala445Val	COSM6143370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656091C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ala445Thr	rs1173423082	missense variant	-	NC_000016.10:g.1656090G>A	gnomAD
CRAMP1	Q96RY5	p.Gln446His	rs1465814507	missense variant	-	NC_000016.10:g.1656095G>T	gnomAD
CRAMP1	Q96RY5	p.Ile447Met	rs1403816425	missense variant	-	NC_000016.10:g.1656098C>G	gnomAD
CRAMP1	Q96RY5	p.Ile447Val	rs750113429	missense variant	-	NC_000016.10:g.1656096A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly449Asp	rs1434812798	missense variant	-	NC_000016.10:g.1656103G>A	gnomAD
CRAMP1	Q96RY5	p.Gly449Val	rs1434812798	missense variant	-	NC_000016.10:g.1656103G>T	gnomAD
CRAMP1	Q96RY5	p.Ile450Met	rs755744988	missense variant	-	NC_000016.10:g.1656107C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln451Leu	rs1337766937	missense variant	-	NC_000016.10:g.1656109A>T	gnomAD
CRAMP1	Q96RY5	p.Gln451Arg	rs1337766937	missense variant	-	NC_000016.10:g.1656109A>G	gnomAD
CRAMP1	Q96RY5	p.Gly455Ala	rs1376866964	missense variant	-	NC_000016.10:g.1656121G>C	TOPMed
CRAMP1	Q96RY5	p.Thr456Met	rs553081131	missense variant	-	NC_000016.10:g.1656124C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg458Gln	rs1350400126	missense variant	-	NC_000016.10:g.1656130G>A	gnomAD
CRAMP1	Q96RY5	p.Arg458Trp	rs747446342	missense variant	-	NC_000016.10:g.1656129C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly459Asp	rs1211869672	missense variant	-	NC_000016.10:g.1656133G>A	gnomAD
CRAMP1	Q96RY5	p.Gln460His	rs1487337214	missense variant	-	NC_000016.10:g.1656137G>T	gnomAD
CRAMP1	Q96RY5	p.Val461Met	rs1043227466	missense variant	-	NC_000016.10:g.1656138G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro464Leu	rs757338395	missense variant	-	NC_000016.10:g.1656148C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg465Gln	rs746105462	missense variant	-	NC_000016.10:g.1656151G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg465Trp	rs767330217	missense variant	-	NC_000016.10:g.1656150C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly467Arg	rs375137924	missense variant	-	NC_000016.10:g.1656156G>C	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly467Arg	rs375137924	missense variant	-	NC_000016.10:g.1656156G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala468Gly	rs749096686	missense variant	-	NC_000016.10:g.1656160C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala468Thr	rs1420929399	missense variant	-	NC_000016.10:g.1656159G>A	gnomAD
CRAMP1	Q96RY5	p.Glu469Gly	rs1352921873	missense variant	-	NC_000016.10:g.1656163A>G	gnomAD
CRAMP1	Q96RY5	p.Gly470Asp	rs1389838559	missense variant	-	NC_000016.10:g.1656166G>A	gnomAD
CRAMP1	Q96RY5	p.Gly472Val	rs370408080	missense variant	-	NC_000016.10:g.1656172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg475Trp	rs772810276	missense variant	-	NC_000016.10:g.1656180C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg475Gln	rs1261839673	missense variant	-	NC_000016.10:g.1656181G>A	gnomAD
CRAMP1	Q96RY5	p.Pro476Leu	rs368960482	missense variant	-	NC_000016.10:g.1656184C>T	ESP
CRAMP1	Q96RY5	p.Pro476Thr	rs374812511	missense variant	-	NC_000016.10:g.1656183C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro476Ser	rs374812511	missense variant	-	NC_000016.10:g.1656183C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro477Leu	rs1436409347	missense variant	-	NC_000016.10:g.1656187C>T	TOPMed
CRAMP1	Q96RY5	p.Pro477Arg	rs1436409347	missense variant	-	NC_000016.10:g.1656187C>G	TOPMed
CRAMP1	Q96RY5	p.Pro477Ala	rs557671601	missense variant	-	NC_000016.10:g.1656186C>G	1000Genomes
CRAMP1	Q96RY5	p.Pro478SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.1656182_1656183insC	NCI-TCGA
CRAMP1	Q96RY5	p.Ala479Val	rs372160619	missense variant	-	NC_000016.10:g.1656193C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala480Gly	rs1159273751	missense variant	-	NC_000016.10:g.1656196C>G	gnomAD
CRAMP1	Q96RY5	p.Ala480Ser	rs899689704	missense variant	-	NC_000016.10:g.1656195G>T	gnomAD
CRAMP1	Q96RY5	p.Ala482Thr	rs150033460	missense variant	-	NC_000016.10:g.1656201G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala482Gly	rs1394971470	missense variant	-	NC_000016.10:g.1656202C>G	gnomAD
CRAMP1	Q96RY5	p.Leu483Phe	rs757719069	missense variant	-	NC_000016.10:g.1656206G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln484Pro	rs781286981	missense variant	-	NC_000016.10:g.1656208A>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln484His	rs745937828	missense variant	-	NC_000016.10:g.1656209G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser486Phe	rs756347466	missense variant	-	NC_000016.10:g.1656214C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser486Cys	rs756347466	missense variant	-	NC_000016.10:g.1656214C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly487Val	rs1243312947	missense variant	-	NC_000016.10:g.1656217G>T	gnomAD
CRAMP1	Q96RY5	p.Gly487Arg	rs1035368808	missense variant	-	NC_000016.10:g.1656216G>A	TOPMed
CRAMP1	Q96RY5	p.Ser490Phe	COSM3506477	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656226C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Pro491Thr	rs749402671	missense variant	-	NC_000016.10:g.1656228C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu492Lys	rs748130394	missense variant	-	NC_000016.10:g.1656231G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala494Thr	rs772650332	missense variant	-	NC_000016.10:g.1656237G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro495Leu	rs373720836	missense variant	-	NC_000016.10:g.1656241C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro495His	rs373720836	missense variant	-	NC_000016.10:g.1656241C>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly496Arg	rs759058105	missense variant	-	NC_000016.10:g.1656243G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly496Ala	rs145412892	missense variant	-	NC_000016.10:g.1656244G>C	1000Genomes,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu497Gln	rs1168347935	missense variant	-	NC_000016.10:g.1656246G>C	gnomAD
CRAMP1	Q96RY5	p.Glu497Gly	rs1417521762	missense variant	-	NC_000016.10:g.1656247A>G	gnomAD
CRAMP1	Q96RY5	p.Glu497ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.1656238C>-	NCI-TCGA
CRAMP1	Q96RY5	p.Gly498Val	rs1430152773	missense variant	-	NC_000016.10:g.1656250G>T	TOPMed
CRAMP1	Q96RY5	p.Gly498Arg	rs1402191175	missense variant	-	NC_000016.10:g.1656249G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala499Pro	rs1444685898	missense variant	-	NC_000016.10:g.1656252G>C	gnomAD
CRAMP1	Q96RY5	p.Ala499Val	rs1298937487	missense variant	-	NC_000016.10:g.1656253C>T	gnomAD
CRAMP1	Q96RY5	p.Ala500Ser	rs751887008	missense variant	-	NC_000016.10:g.1656255G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala500Thr	rs751887008	missense variant	-	NC_000016.10:g.1656255G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala500Val	rs1394319006	missense variant	-	NC_000016.10:g.1656256C>T	gnomAD
CRAMP1	Q96RY5	p.Ser502Thr	rs1295658944	missense variant	-	NC_000016.10:g.1656262G>C	gnomAD
CRAMP1	Q96RY5	p.Leu503Phe	COSM1646742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656266G>C	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ser505Gly	rs372185664	missense variant	-	NC_000016.10:g.1656270A>G	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro506Leu	rs200270407	missense variant	-	NC_000016.10:g.1656274C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala508Thr	rs754112928	missense variant	-	NC_000016.10:g.1656279G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala508Asp	rs754637328	missense variant	-	NC_000016.10:g.1656280C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro509Leu	rs1471862230	missense variant	-	NC_000016.10:g.1656283C>T	TOPMed
CRAMP1	Q96RY5	p.Arg511Gly	rs778893305	missense variant	-	NC_000016.10:g.1656288A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg511Ser	rs1257590092	missense variant	-	NC_000016.10:g.1656290G>T	gnomAD
CRAMP1	Q96RY5	p.Pro513Leu	rs903117300	missense variant	-	NC_000016.10:g.1656295C>T	gnomAD
CRAMP1	Q96RY5	p.Pro513Ser	rs562736193	missense variant	-	NC_000016.10:g.1656294C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro514Ser	rs1439886053	missense variant	-	NC_000016.10:g.1656297C>T	TOPMed
CRAMP1	Q96RY5	p.Arg515Ser	rs777765671	missense variant	-	NC_000016.10:g.1656302G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.His516Gln	rs746858691	missense variant	-	NC_000016.10:g.1656305C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln517His	rs770493494	missense variant	-	NC_000016.10:g.1656308G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln517Arg	rs1358727822	missense variant	-	NC_000016.10:g.1656307A>G	gnomAD
CRAMP1	Q96RY5	p.Asp518GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.1656311C>-	NCI-TCGA
CRAMP1	Q96RY5	p.Thr519Ala	rs775959380	missense variant	-	NC_000016.10:g.1656312A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly520Glu	rs1356140035	missense variant	-	NC_000016.10:g.1656316G>A	gnomAD
CRAMP1	Q96RY5	p.Pro521Ser	rs759224794	missense variant	-	NC_000016.10:g.1656318C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr526Ile	rs1364566361	missense variant	-	NC_000016.10:g.1656334C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr526Ala	rs769410929	missense variant	-	NC_000016.10:g.1656333A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro527Ser	rs774753825	missense variant	-	NC_000016.10:g.1656336C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala528Val	rs1236741727	missense variant	-	NC_000016.10:g.1656340C>T	gnomAD
CRAMP1	Q96RY5	p.Glu529Lys	COSM332672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656342G>A	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Gly530Ser	rs767706760	missense variant	-	NC_000016.10:g.1656345G>A	ExAC
CRAMP1	Q96RY5	p.Arg531Gly	rs750952543	missense variant	-	NC_000016.10:g.1656348A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg531Lys	rs761038864	missense variant	-	NC_000016.10:g.1656349G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp532Tyr	rs1056706414	missense variant	-	NC_000016.10:g.1656351G>T	gnomAD
CRAMP1	Q96RY5	p.Asp532His	rs1056706414	missense variant	-	NC_000016.10:g.1656351G>C	gnomAD
CRAMP1	Q96RY5	p.Asp532Gly	rs1214388794	missense variant	-	NC_000016.10:g.1656352A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg536Gln	rs371446549	missense variant	-	NC_000016.10:g.1656364G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg536Trp	rs183769316	missense variant	-	NC_000016.10:g.1656363C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg536Pro	rs371446549	missense variant	-	NC_000016.10:g.1656364G>C	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu537Lys	rs552084892	missense variant	-	NC_000016.10:g.1656366G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro538Leu	rs374738088	missense variant	-	NC_000016.10:g.1656370C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly539Val	rs370114636	missense variant	-	NC_000016.10:g.1656373G>T	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly539Ala	rs370114636	missense variant	-	NC_000016.10:g.1656373G>C	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala540Ser	rs373328340	missense variant	-	NC_000016.10:g.1656375G>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala540Thr	rs373328340	missense variant	-	NC_000016.10:g.1656375G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro542Leu	rs199732432	missense variant	-	NC_000016.10:g.1656382C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro542Ala	rs1347404329	missense variant	-	NC_000016.10:g.1656381C>G	gnomAD
CRAMP1	Q96RY5	p.Cys543Ser	rs1365888077	missense variant	-	NC_000016.10:g.1656384T>A	gnomAD
CRAMP1	Q96RY5	p.Ala544Val	rs995022425	missense variant	-	NC_000016.10:g.1656388C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Cys545Gly	rs1206981167	missense variant	-	NC_000016.10:g.1656390T>G	TOPMed
CRAMP1	Q96RY5	p.Leu548Phe	rs752981865	missense variant	-	NC_000016.10:g.1656399C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu548Val	rs752981865	missense variant	-	NC_000016.10:g.1656399C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro549Arg	rs773410575	missense variant	-	NC_000016.10:g.1656403C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro549Ser	rs772508584	missense variant	-	NC_000016.10:g.1656402C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro549Leu	rs773410575	missense variant	-	NC_000016.10:g.1656403C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp550His	rs377597921	missense variant	-	NC_000016.10:g.1656405G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp553Gly	rs1469612291	missense variant	-	NC_000016.10:g.1656415A>G	gnomAD
CRAMP1	Q96RY5	p.Asp553Asn	rs1244816771	missense variant	-	NC_000016.10:g.1656414G>A	gnomAD
CRAMP1	Q96RY5	p.Glu554Lys	rs776911598	missense variant	-	NC_000016.10:g.1656417G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu555Phe	rs950653296	missense variant	-	NC_000016.10:g.1656420C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu555Pro	rs1399209231	missense variant	-	NC_000016.10:g.1656421T>C	gnomAD
CRAMP1	Q96RY5	p.Ser556Leu	rs537483186	missense variant	-	NC_000016.10:g.1656424C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu558Pro	rs758649118	missense variant	-	NC_000016.10:g.1656430T>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro560Ala	rs374501457	missense variant	-	NC_000016.10:g.1656435C>G	ESP,gnomAD
CRAMP1	Q96RY5	p.Pro560Ser	rs374501457	missense variant	-	NC_000016.10:g.1656435C>T	ESP,gnomAD
CRAMP1	Q96RY5	p.Leu561Phe	rs751286575	missense variant	-	NC_000016.10:g.1656440G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu561Met	rs1375619428	missense variant	-	NC_000016.10:g.1656438T>A	gnomAD
CRAMP1	Q96RY5	p.Pro562Ala	rs757274453	missense variant	-	NC_000016.10:g.1656441C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro562Ser	rs757274453	missense variant	-	NC_000016.10:g.1656441C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg563His	rs755634011	missense variant	-	NC_000016.10:g.1656445G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg563Cys	rs577488354	missense variant	-	NC_000016.10:g.1656444C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg563Gly	rs577488354	missense variant	-	NC_000016.10:g.1656444C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Tyr564Cys	rs1336683765	missense variant	-	NC_000016.10:g.1656448A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys566Asn	rs779490530	missense variant	-	NC_000016.10:g.1656455G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Cys568Ser	rs1237328124	missense variant	-	NC_000016.10:g.1656460G>C	gnomAD
CRAMP1	Q96RY5	p.Gln569Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1656462C>G	NCI-TCGA
CRAMP1	Q96RY5	p.Asp570Asn	rs1248685034	missense variant	-	NC_000016.10:g.1656465G>A	TOPMed
CRAMP1	Q96RY5	p.Leu571Val	rs1179886531	missense variant	-	NC_000016.10:g.1656468C>G	gnomAD
CRAMP1	Q96RY5	p.Ile572Val	rs1216422800	missense variant	-	NC_000016.10:g.1656471A>G	TOPMed
CRAMP1	Q96RY5	p.Pro574Arg	rs1470524868	missense variant	-	NC_000016.10:g.1656478C>G	gnomAD
CRAMP1	Q96RY5	p.Pro574Thr	rs1233227165	missense variant	-	NC_000016.10:g.1656477C>A	gnomAD
CRAMP1	Q96RY5	p.Glu575Lys	rs1416243813	missense variant	-	NC_000016.10:g.1656480G>A	gnomAD
CRAMP1	Q96RY5	p.Glu575Gln	rs1416243813	missense variant	-	NC_000016.10:g.1656480G>C	gnomAD
CRAMP1	Q96RY5	p.Glu575Val	rs553638328	missense variant	-	NC_000016.10:g.1656481A>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln576Arg	rs978777791	missense variant	-	NC_000016.10:g.1656484A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln576His	rs773676967	missense variant	-	NC_000016.10:g.1656485G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Cys577Arg	rs1272278815	missense variant	-	NC_000016.10:g.1656486T>C	gnomAD
CRAMP1	Q96RY5	p.Arg578Ser	rs1330418090	missense variant	-	NC_000016.10:g.1656489C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg578His	rs747324517	missense variant	-	NC_000016.10:g.1656490G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg578Cys	rs1330418090	missense variant	-	NC_000016.10:g.1656489C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Cys579Ser	rs1446567699	missense variant	-	NC_000016.10:g.1656492T>A	gnomAD
CRAMP1	Q96RY5	p.Cys579Tyr	rs573825535	missense variant	-	NC_000016.10:g.1656493G>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala580Val	rs542745050	missense variant	-	NC_000016.10:g.1656496C>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp581Asn	rs1257234848	missense variant	-	NC_000016.10:g.1656498G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr582Ala	rs760066089	missense variant	-	NC_000016.10:g.1656501A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg583Gln	rs765434904	missense variant	-	NC_000016.10:g.1656505G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg583Trp	rs1194315710	missense variant	-	NC_000016.10:g.1656504C>T	gnomAD
CRAMP1	Q96RY5	p.Gly585Arg	rs934929492	missense variant	-	NC_000016.10:g.1656510G>A	TOPMed
CRAMP1	Q96RY5	p.Ser586Arg	rs563031777	missense variant	-	NC_000016.10:g.1656515C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu587Lys	rs763282564	missense variant	-	NC_000016.10:g.1656516G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln588His	rs948415333	missense variant	-	NC_000016.10:g.1656521G>C	gnomAD
CRAMP1	Q96RY5	p.Gln588Arg	COSM967610	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656520A>G	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Pro590Ser	rs1189228382	missense variant	-	NC_000016.10:g.1656525C>T	gnomAD
CRAMP1	Q96RY5	p.Pro590His	rs751435469	missense variant	-	NC_000016.10:g.1656526C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro590Leu	rs751435469	missense variant	-	NC_000016.10:g.1656526C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu591Val	rs767241110	missense variant	-	NC_000016.10:g.1656528C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly592Asp	rs1396703874	missense variant	-	NC_000016.10:g.1656532G>A	gnomAD
CRAMP1	Q96RY5	p.Gly592Ser	rs1188423406	missense variant	-	NC_000016.10:g.1656531G>A	TOPMed
CRAMP1	Q96RY5	p.Gly593Arg	rs756006420	missense variant	-	NC_000016.10:g.1656534G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala594Val	rs779580535	missense variant	-	NC_000016.10:g.1656538C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala594Pro	rs1356783080	missense variant	-	NC_000016.10:g.1656537G>C	gnomAD
CRAMP1	Q96RY5	p.Ala595Thr	rs1324497582	missense variant	-	NC_000016.10:g.1656540G>A	gnomAD
CRAMP1	Q96RY5	p.Ser596Phe	rs545390375	missense variant	-	NC_000016.10:g.1656544C>T	1000Genomes
CRAMP1	Q96RY5	p.Pro597Ser	rs1341092217	missense variant	-	NC_000016.10:g.1656546C>T	TOPMed
CRAMP1	Q96RY5	p.Pro597Leu	rs1272158136	missense variant	-	NC_000016.10:g.1656547C>T	gnomAD
CRAMP1	Q96RY5	p.Val599Leu	rs1278331183	missense variant	-	NC_000016.10:g.1656552G>T	gnomAD
CRAMP1	Q96RY5	p.Val599Ala	rs778428297	missense variant	-	NC_000016.10:g.1656553T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro602Ser	rs368181087	missense variant	-	NC_000016.10:g.1656561C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val603Ile	rs777091430	missense variant	-	NC_000016.10:g.1656564G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val603Leu	rs777091430	missense variant	-	NC_000016.10:g.1656564G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser604Asn	rs1171341136	missense variant	-	NC_000016.10:g.1656568G>A	gnomAD
CRAMP1	Q96RY5	p.Ser604Gly	rs374772176	missense variant	-	NC_000016.10:g.1656567A>G	ESP,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu606Lys	rs145013663	missense variant	-	NC_000016.10:g.1656573G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala608Val	rs762935745	missense variant	-	NC_000016.10:g.1656580C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp609His	rs774449066	missense variant	-	NC_000016.10:g.1656582G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu610Phe	rs965032988	missense variant	-	NC_000016.10:g.1656585C>T	gnomAD
CRAMP1	Q96RY5	p.Ala611Val	rs762046057	missense variant	-	NC_000016.10:g.1656589C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro612Ala	rs527950415	missense variant	-	NC_000016.10:g.1656591C>G	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro612Ser	rs527950415	missense variant	-	NC_000016.10:g.1656591C>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr613Ala	rs371731624	missense variant	-	NC_000016.10:g.1656594A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly614Asp	rs548075473	missense variant	-	NC_000016.10:g.1656598G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro617Leu	rs753456827	missense variant	-	NC_000016.10:g.1656607C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro617Arg	rs753456827	missense variant	-	NC_000016.10:g.1656607C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro617Ala	rs1012089202	missense variant	-	NC_000016.10:g.1656606C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly620Asp	rs1191391969	missense variant	-	NC_000016.10:g.1656616G>A	gnomAD
CRAMP1	Q96RY5	p.Gly620Ser	rs758033308	missense variant	-	NC_000016.10:g.1656615G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro621Ser	rs781721413	missense variant	-	NC_000016.10:g.1656618C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro621Ala	rs781721413	missense variant	-	NC_000016.10:g.1656618C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly622Arg	rs1157584038	missense variant	-	NC_000016.10:g.1656621G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu623Phe	rs992663171	missense variant	-	NC_000016.10:g.1656624C>T	gnomAD
CRAMP1	Q96RY5	p.Leu624Met	rs1289352640	missense variant	-	NC_000016.10:g.1656627C>A	gnomAD
CRAMP1	Q96RY5	p.Cys628Phe	rs1447871763	missense variant	-	NC_000016.10:g.1656640G>T	gnomAD
CRAMP1	Q96RY5	p.Cys628Tyr	rs1447871763	missense variant	-	NC_000016.10:g.1656640G>A	gnomAD
CRAMP1	Q96RY5	p.Thr629Pro	rs780708550	missense variant	-	NC_000016.10:g.1656642A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr629Ser	rs747147815	missense variant	-	NC_000016.10:g.1656643C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp631Val	rs1441911598	missense variant	-	NC_000016.10:g.1656649A>T	gnomAD
CRAMP1	Q96RY5	p.Asp631His	rs1373538969	missense variant	-	NC_000016.10:g.1656648G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala633Gly	rs191084422	missense variant	-	NC_000016.10:g.1656655C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala633Val	rs191084422	missense variant	-	NC_000016.10:g.1656655C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp634Asn	rs1261788272	missense variant	-	NC_000016.10:g.1656657G>A	gnomAD
CRAMP1	Q96RY5	p.Asp634His	rs1261788272	missense variant	-	NC_000016.10:g.1656657G>C	gnomAD
CRAMP1	Q96RY5	p.Ala637Val	rs920280760	missense variant	-	NC_000016.10:g.1656667C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala637Glu	rs920280760	missense variant	-	NC_000016.10:g.1656667C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu638Lys	rs766097615	missense variant	-	NC_000016.10:g.1656669G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly644Arg	rs1420300734	missense variant	-	NC_000016.10:g.1656687G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro646Arg	rs764688261	missense variant	-	NC_000016.10:g.1656694C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro646His	rs764688261	missense variant	-	NC_000016.10:g.1656694C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala647Thr	rs758179352	missense variant	-	NC_000016.10:g.1656696G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala647Val	rs777559860	missense variant	-	NC_000016.10:g.1656697C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly648Arg	rs1297777209	missense variant	-	NC_000016.10:g.1656699G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro649Leu	rs756559071	missense variant	-	NC_000016.10:g.1656703C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro650Leu	rs780415279	missense variant	-	NC_000016.10:g.1656706C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro650Thr	rs1264484695	missense variant	-	NC_000016.10:g.1656705C>A	TOPMed
CRAMP1	Q96RY5	p.Pro651Leu	rs537572177	missense variant	-	NC_000016.10:g.1656709C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser652Cys	rs1335880575	missense variant	-	NC_000016.10:g.1656712C>G	gnomAD
CRAMP1	Q96RY5	p.Ser652Phe	rs1335880575	missense variant	-	NC_000016.10:g.1656712C>T	gnomAD
CRAMP1	Q96RY5	p.Gln653His	rs1320586522	missense variant	-	NC_000016.10:g.1656716G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly654Glu	rs1481337275	missense variant	-	NC_000016.10:g.1656718G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly654Arg	rs1249217826	missense variant	-	NC_000016.10:g.1656717G>A	gnomAD
CRAMP1	Q96RY5	p.Gly654Ala	rs1481337275	missense variant	-	NC_000016.10:g.1656718G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala657Gly	rs1177339443	missense variant	-	NC_000016.10:g.1656727C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala657Val	rs1177339443	missense variant	-	NC_000016.10:g.1656727C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala657Asp	rs1177339443	missense variant	-	NC_000016.10:g.1656727C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala658Thr	rs570912665	missense variant	-	NC_000016.10:g.1656729G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg659Ser	rs1170017010	missense variant	-	NC_000016.10:g.1656734G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg659Gly	rs1418341007	missense variant	-	NC_000016.10:g.1656732A>G	gnomAD
CRAMP1	Q96RY5	p.Arg659Lys	rs1409117106	missense variant	-	NC_000016.10:g.1656733G>A	gnomAD
CRAMP1	Q96RY5	p.Pro660Ala	rs1352918863	missense variant	-	NC_000016.10:g.1656735C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro660Ser	rs1352918863	missense variant	-	NC_000016.10:g.1656735C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro660Leu	rs1463707076	missense variant	-	NC_000016.10:g.1656736C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro660His	rs1463707076	missense variant	-	NC_000016.10:g.1656736C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro661Leu	rs533832759	missense variant	-	NC_000016.10:g.1656739C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro661Arg	rs533832759	missense variant	-	NC_000016.10:g.1656739C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu663Gly	rs1193821403	missense variant	-	NC_000016.10:g.1656745A>G	TOPMed
CRAMP1	Q96RY5	p.Val664Ile	rs1044934815	missense variant	-	NC_000016.10:g.1656747G>A	TOPMed
CRAMP1	Q96RY5	p.Pro665Ser	rs368418963	missense variant	-	NC_000016.10:g.1656750C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala666Asp	rs759207917	missense variant	-	NC_000016.10:g.1656754C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala666Thr	rs776666101	missense variant	-	NC_000016.10:g.1656753G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser667Gly	rs1262984827	missense variant	-	NC_000016.10:g.1656756A>G	TOPMed
CRAMP1	Q96RY5	p.Ser667Arg	rs1262984827	missense variant	-	NC_000016.10:g.1656756A>C	TOPMed
CRAMP1	Q96RY5	p.Arg668Gln	rs146776711	missense variant	-	NC_000016.10:g.1656760G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg668Leu	rs146776711	missense variant	-	NC_000016.10:g.1656760G>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg668Trp	rs774942675	missense variant	-	NC_000016.10:g.1656759C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu669Pro	rs1304457232	missense variant	-	NC_000016.10:g.1656763T>C	TOPMed
CRAMP1	Q96RY5	p.Leu669Met	rs1484378205	missense variant	-	NC_000016.10:g.1656762C>A	gnomAD
CRAMP1	Q96RY5	p.Ala670Gly	rs1212978869	missense variant	-	NC_000016.10:g.1656766C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu673Phe	rs1257519449	missense variant	-	NC_000016.10:g.1656774C>T	gnomAD
CRAMP1	Q96RY5	p.Leu673Pro	rs1363150861	missense variant	-	NC_000016.10:g.1656775T>C	TOPMed
CRAMP1	Q96RY5	p.Arg674Leu	rs757340231	missense variant	-	NC_000016.10:g.1656778G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg674His	rs757340231	missense variant	-	NC_000016.10:g.1656778G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg674Cys	rs969980024	missense variant	-	NC_000016.10:g.1656777C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu675Lys	rs1421381135	missense variant	-	NC_000016.10:g.1656780G>A	gnomAD
CRAMP1	Q96RY5	p.Glu676Asp	rs1394182390	missense variant	-	NC_000016.10:g.1656785G>C	TOPMed
CRAMP1	Q96RY5	p.Glu676Gly	rs763900352	missense variant	-	NC_000016.10:g.1656784A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu676Lys	rs1430556494	missense variant	-	NC_000016.10:g.1656783G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly677Asp	rs1394579767	missense variant	-	NC_000016.10:g.1656787G>A	gnomAD
CRAMP1	Q96RY5	p.Trp678Cys	rs1432898476	missense variant	-	NC_000016.10:g.1656791G>C	gnomAD
CRAMP1	Q96RY5	p.Trp678Cys	rs1432898476	missense variant	-	NC_000016.10:g.1656791G>T	gnomAD
CRAMP1	Q96RY5	p.Leu680Val	rs1019589676	missense variant	-	NC_000016.10:g.1656795C>G	TOPMed
CRAMP1	Q96RY5	p.Glu684Lys	rs1376658973	missense variant	-	NC_000016.10:g.1656807G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met694Thr	rs1345130398	missense variant	-	NC_000016.10:g.1656838T>C	gnomAD
CRAMP1	Q96RY5	p.Leu701Met	rs1358375030	missense variant	-	NC_000016.10:g.1656858C>A	gnomAD
CRAMP1	Q96RY5	p.Gln702Lys	rs755238832	missense variant	-	NC_000016.10:g.1656861C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu704Asp	rs1280398652	missense variant	-	NC_000016.10:g.1656869G>T	gnomAD
CRAMP1	Q96RY5	p.Glu704Gln	rs1228325723	missense variant	-	NC_000016.10:g.1656867G>C	TOPMed
CRAMP1	Q96RY5	p.Gly709Arg	rs748577178	missense variant	-	NC_000016.10:g.1656882G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly709Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1656883G>T	NCI-TCGA
CRAMP1	Q96RY5	p.Pro710Ser	rs1243678608	missense variant	-	NC_000016.10:g.1656885C>T	gnomAD
CRAMP1	Q96RY5	p.Gly711Ser	rs545529729	missense variant	-	NC_000016.10:g.1656888G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg712His	rs903823727	missense variant	-	NC_000016.10:g.1656892G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg712Cys	rs565235725	missense variant	-	NC_000016.10:g.1656891C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg712Leu	rs903823727	missense variant	-	NC_000016.10:g.1656892G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg716Cys	rs771069939	missense variant	-	NC_000016.10:g.1656903C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg716Leu	rs372279645	missense variant	-	NC_000016.10:g.1656904G>T	gnomAD
CRAMP1	Q96RY5	p.Arg716His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1656904G>A	NCI-TCGA
CRAMP1	Q96RY5	p.Gly718Ser	rs745825658	missense variant	-	NC_000016.10:g.1656909G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu720Val	rs1436192641	missense variant	-	NC_000016.10:g.1656915C>G	gnomAD
CRAMP1	Q96RY5	p.Pro721His	rs1335872676	missense variant	-	NC_000016.10:g.1656919C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro721Arg	rs1335872676	missense variant	-	NC_000016.10:g.1656919C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro721Thr	rs1324822848	missense variant	-	NC_000016.10:g.1656918C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro721Ser	rs1324822848	missense variant	-	NC_000016.10:g.1656918C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr722Ile	rs1368403011	missense variant	-	NC_000016.10:g.1656922C>T	gnomAD
CRAMP1	Q96RY5	p.Ala723Thr	rs775345230	missense variant	-	NC_000016.10:g.1656924G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala723Ser	rs775345230	missense variant	-	NC_000016.10:g.1656924G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.His725Pro	rs1045299343	missense variant	-	NC_000016.10:g.1656931A>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.His725Asp	rs1272581900	missense variant	-	NC_000016.10:g.1656930C>G	TOPMed
CRAMP1	Q96RY5	p.His725Gln	rs903724382	missense variant	-	NC_000016.10:g.1656932C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln727His	rs774178478	missense variant	-	NC_000016.10:g.1656938G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg728His	rs1250904876	missense variant	-	NC_000016.10:g.1656940G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu729Arg	rs541352163	missense variant	-	NC_000016.10:g.1656943T>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser731Asn	rs970311309	missense variant	-	NC_000016.10:g.1656949G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser731Thr	rs970311309	missense variant	-	NC_000016.10:g.1656949G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu733Phe	rs767068024	missense variant	-	NC_000016.10:g.1656954C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr739Ala	rs920515248	missense variant	-	NC_000016.10:g.1656972A>G	TOPMed
CRAMP1	Q96RY5	p.Glu740Lys	rs755504106	missense variant	-	NC_000016.10:g.1656975G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val741Ile	rs1164737281	missense variant	-	NC_000016.10:g.1656978G>A	gnomAD
CRAMP1	Q96RY5	p.Pro743Thr	rs1178985337	missense variant	-	NC_000016.10:g.1656984C>A	gnomAD
CRAMP1	Q96RY5	p.Lys744Thr	rs753035998	missense variant	-	NC_000016.10:g.1656988A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala746Asp	rs1431823838	missense variant	-	NC_000016.10:g.1659887C>A	TOPMed
CRAMP1	Q96RY5	p.Ala746Thr	rs780091307	missense variant	-	NC_000016.10:g.1659886G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala746Pro	rs780091307	missense variant	-	NC_000016.10:g.1659886G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu747Val	rs749251381	missense variant	-	NC_000016.10:g.1659889C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala749Gly	rs1372860898	missense variant	-	NC_000016.10:g.1659896C>G	gnomAD
CRAMP1	Q96RY5	p.Thr751Ile	rs768499069	missense variant	-	NC_000016.10:g.1659902C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser753Thr	rs1200595363	missense variant	-	NC_000016.10:g.1659907T>A	TOPMed
CRAMP1	Q96RY5	p.Ser753Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1659908C>G	NCI-TCGA
CRAMP1	Q96RY5	p.Thr754Ile	rs1021525675	missense variant	-	NC_000016.10:g.1659911C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr754Ala	rs1390287107	missense variant	-	NC_000016.10:g.1659910A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg758Ser	rs772777296	missense variant	-	NC_000016.10:g.1659924G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg758Gly	rs369231610	missense variant	-	NC_000016.10:g.1659922A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro759Thr	rs1261266997	missense variant	-	NC_000016.10:g.1659925C>A	TOPMed
CRAMP1	Q96RY5	p.Pro759Arg	rs1317423233	missense variant	-	NC_000016.10:g.1659926C>G	gnomAD
CRAMP1	Q96RY5	p.Ala760Ser	COSM1376149	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1659928G>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ala760Thr	rs770447391	missense variant	-	NC_000016.10:g.1659928G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln761Lys	rs1300041980	missense variant	-	NC_000016.10:g.1659931C>A	gnomAD
CRAMP1	Q96RY5	p.Glu762Lys	rs200608756	missense variant	-	NC_000016.10:g.1659934G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu763Lys	rs763450496	missense variant	-	NC_000016.10:g.1659937G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser765Leu	rs199878911	missense variant	-	NC_000016.10:g.1659944C>T	1000Genomes,ESP,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met766Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1659946A>G	NCI-TCGA
CRAMP1	Q96RY5	p.Thr767Ser	rs764647937	missense variant	-	NC_000016.10:g.1659949A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr767Met	rs1261501449	missense variant	-	NC_000016.10:g.1659950C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro768Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1659952C>T	NCI-TCGA
CRAMP1	Q96RY5	p.Pro769Leu	rs1248201747	missense variant	-	NC_000016.10:g.1659956C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro769GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.1659952C>-	NCI-TCGA
CRAMP1	Q96RY5	p.Gly770Val	rs1255062349	missense variant	-	NC_000016.10:g.1659959G>T	gnomAD
CRAMP1	Q96RY5	p.Lys771Glu	COSM3672168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1659961A>G	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Val773Ala	rs756161025	missense variant	-	NC_000016.10:g.1659968T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val775Ile	rs754951039	missense variant	-	NC_000016.10:g.1659973G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser776Ile	rs1039708181	missense variant	-	NC_000016.10:g.1659977G>T	TOPMed
CRAMP1	Q96RY5	p.Ser777Phe	rs1192679325	missense variant	-	NC_000016.10:g.1659980C>T	TOPMed
CRAMP1	Q96RY5	p.Arg778His	rs1322820687	missense variant	-	NC_000016.10:g.1659983G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg778Cys	rs1383635649	missense variant	-	NC_000016.10:g.1659982C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser779Asn	rs747941119	missense variant	-	NC_000016.10:g.1659986G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser779Gly	rs1366268249	missense variant	-	NC_000016.10:g.1659985A>G	gnomAD
CRAMP1	Q96RY5	p.Pro780Ala	rs1262372320	missense variant	-	NC_000016.10:g.1659988C>G	TOPMed
CRAMP1	Q96RY5	p.Arg781Cys	rs746650368	missense variant	-	NC_000016.10:g.1659991C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg781His	rs770641600	missense variant	-	NC_000016.10:g.1659992G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Cys782Arg	rs1349005336	missense variant	-	NC_000016.10:g.1659994T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro783His	rs536165085	missense variant	-	NC_000016.10:g.1659998C>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro783Ser	rs374299928	missense variant	-	NC_000016.10:g.1659997C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro783Leu	rs536165085	missense variant	-	NC_000016.10:g.1659998C>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg784Gln	rs1464600819	missense variant	-	NC_000016.10:g.1660001G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg784Trp	rs762190804	missense variant	-	NC_000016.10:g.1660000C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln786Arg	rs370505312	missense variant	-	NC_000016.10:g.1660007A>G	ESP,TOPMed
CRAMP1	Q96RY5	p.Leu789Pro	rs1433219826	missense variant	-	NC_000016.10:g.1660016T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg790Leu	rs773417565	missense variant	-	NC_000016.10:g.1660019G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg790His	rs773417565	missense variant	-	NC_000016.10:g.1660019G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg790Cys	rs1393732339	missense variant	-	NC_000016.10:g.1660018C>T	TOPMed
CRAMP1	Q96RY5	p.Ser791Asn	rs1455269528	missense variant	-	NC_000016.10:g.1660022G>A	gnomAD
CRAMP1	Q96RY5	p.Ser791Gly	rs202027042	missense variant	-	NC_000016.10:g.1660021A>G	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr794Asn	rs766766057	missense variant	-	NC_000016.10:g.1660031C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr794Ile	rs766766057	missense variant	-	NC_000016.10:g.1660031C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro796Leu	rs915938562	missense variant	-	NC_000016.10:g.1660037C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro796Thr	rs112404892	missense variant	-	NC_000016.10:g.1660036C>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro796Ala	rs112404892	missense variant	-	NC_000016.10:g.1660036C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro797Ser	rs1306371639	missense variant	-	NC_000016.10:g.1660039C>T	gnomAD
CRAMP1	Q96RY5	p.Ala800Thr	rs61746425	missense variant	-	NC_000016.10:g.1660048G>A	gnomAD
CRAMP1	Q96RY5	p.Ala800Val	rs200073715	missense variant	-	NC_000016.10:g.1660049C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala800Pro	rs61746425	missense variant	-	NC_000016.10:g.1660048G>C	gnomAD
CRAMP1	Q96RY5	p.Ser803Phe	rs777430946	missense variant	-	NC_000016.10:g.1660058C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly805Arg	rs1488527648	missense variant	-	NC_000016.10:g.1660063G>C	gnomAD
CRAMP1	Q96RY5	p.Gly805Val	rs887680348	missense variant	-	NC_000016.10:g.1662490G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly805Asp	rs887680348	missense variant	-	NC_000016.10:g.1662490G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn808His	rs1431627538	missense variant	-	NC_000016.10:g.1662498A>C	gnomAD
CRAMP1	Q96RY5	p.Pro809Arg	rs757079031	missense variant	-	NC_000016.10:g.1662502C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro809Leu	rs757079031	missense variant	-	NC_000016.10:g.1662502C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro809Ser	rs1375430585	missense variant	-	NC_000016.10:g.1662501C>T	gnomAD
CRAMP1	Q96RY5	p.Pro810Ala	rs1462706562	missense variant	-	NC_000016.10:g.1662504C>G	TOPMed
CRAMP1	Q96RY5	p.Arg811Gly	rs1305000726	missense variant	-	NC_000016.10:g.1662507A>G	gnomAD
CRAMP1	Q96RY5	p.Leu814Ser	rs1381321484	missense variant	-	NC_000016.10:g.1662517T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val815Ala	rs1470240482	missense variant	-	NC_000016.10:g.1662520T>C	TOPMed
CRAMP1	Q96RY5	p.Pro816Arg	rs1036554119	missense variant	-	NC_000016.10:g.1662523C>G	TOPMed
CRAMP1	Q96RY5	p.Pro816Ala	rs369489514	missense variant	-	NC_000016.10:g.1662522C>G	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro816Ser	rs369489514	missense variant	-	NC_000016.10:g.1662522C>T	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly817Val	rs1197454072	missense variant	-	NC_000016.10:g.1662526G>T	TOPMed
CRAMP1	Q96RY5	p.Ser819Pro	rs1343697405	missense variant	-	NC_000016.10:g.1662531T>C	gnomAD
CRAMP1	Q96RY5	p.Ser819Cys	COSM3817322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1662532C>G	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ser819Phe	rs755554549	missense variant	-	NC_000016.10:g.1662532C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr821Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1662538C>A	NCI-TCGA
CRAMP1	Q96RY5	p.Gly822Arg	rs536734837	missense variant	-	NC_000016.10:g.1662540G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser823Thr	rs1195815304	missense variant	-	NC_000016.10:g.1662544G>C	TOPMed
CRAMP1	Q96RY5	p.Asn824Asp	rs1463738022	missense variant	-	NC_000016.10:g.1662546A>G	TOPMed
CRAMP1	Q96RY5	p.Asn824Ser	rs772436155	missense variant	-	NC_000016.10:g.1662547A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp825Gly	rs1485396628	missense variant	-	NC_000016.10:g.1662550A>G	gnomAD
CRAMP1	Q96RY5	p.Gly828Arg	rs778381966	missense variant	-	NC_000016.10:g.1662558G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly828Val	rs747335674	missense variant	-	NC_000016.10:g.1662559G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu830Phe	rs1352985988	missense variant	-	NC_000016.10:g.1662564C>T	TOPMed
CRAMP1	Q96RY5	p.Leu830Val	rs1352985988	missense variant	-	NC_000016.10:g.1662564C>G	TOPMed
CRAMP1	Q96RY5	p.Pro834Leu	rs759838917	missense variant	-	NC_000016.10:g.1662577C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr836Ala	rs770117368	missense variant	-	NC_000016.10:g.1662582A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro839Leu	rs1046185385	missense variant	-	NC_000016.10:g.1662592C>T	TOPMed
CRAMP1	Q96RY5	p.Asn840Ser	rs1430384197	missense variant	-	NC_000016.10:g.1662595A>G	gnomAD
CRAMP1	Q96RY5	p.Ser841Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1662599C>G	NCI-TCGA
CRAMP1	Q96RY5	p.Arg842Gln	rs1287473738	missense variant	-	NC_000016.10:g.1662601G>A	gnomAD
CRAMP1	Q96RY5	p.Arg842Ter	rs1303886936	stop gained	-	NC_000016.10:g.1662600C>T	TOPMed
CRAMP1	Q96RY5	p.His843Arg	rs775413489	missense variant	-	NC_000016.10:g.1662604A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.His843Tyr	rs904822536	missense variant	-	NC_000016.10:g.1662603C>T	TOPMed
CRAMP1	Q96RY5	p.Gly844Arg	rs763900969	missense variant	-	NC_000016.10:g.1662606G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu846Val	rs761540603	missense variant	-	NC_000016.10:g.1662612C>G	ExAC
CRAMP1	Q96RY5	p.Phe847Leu	COSM967612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1662617C>A	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Phe847Ser	rs763311481	missense variant	-	NC_000016.10:g.1662616T>C	gnomAD
CRAMP1	Q96RY5	p.Ser850Asn	rs146404798	missense variant	-	NC_000016.10:g.1662625G>A	1000Genomes,TOPMed
CRAMP1	Q96RY5	p.Ala853Thr	rs545394109	missense variant	-	NC_000016.10:g.1662633G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr856Ser	rs1466450946	missense variant	-	NC_000016.10:g.1662643C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr856Ile	rs1466450946	missense variant	-	NC_000016.10:g.1662643C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Phe857Leu	rs779805004	missense variant	-	NC_000016.10:g.1662647C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Phe857Val	rs1252475548	missense variant	-	NC_000016.10:g.1662645T>G	gnomAD
CRAMP1	Q96RY5	p.Arg858His	rs778089266	missense variant	-	NC_000016.10:g.1662649G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg858Cys	rs754545843	missense variant	-	NC_000016.10:g.1662648C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln859Arg	rs1020783857	missense variant	-	NC_000016.10:g.1662652A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn862Ser	rs967429326	missense variant	-	NC_000016.10:g.1662661A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile864Val	rs1001038539	missense variant	-	NC_000016.10:g.1662666A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser865Asn	rs771350552	missense variant	-	NC_000016.10:g.1662670G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser865Thr	rs771350552	missense variant	-	NC_000016.10:g.1662670G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln867Ter	rs1418203059	stop gained	-	NC_000016.10:g.1662764C>T	gnomAD
CRAMP1	Q96RY5	p.Gln867Arg	rs758017798	missense variant	-	NC_000016.10:g.1662765A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln867His	rs1232269585	missense variant	-	NC_000016.10:g.1662766G>T	TOPMed
CRAMP1	Q96RY5	p.Ser868Leu	rs1169924344	missense variant	-	NC_000016.10:g.1662768C>T	gnomAD
CRAMP1	Q96RY5	p.Phe870Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1662775C>A	NCI-TCGA
CRAMP1	Q96RY5	p.Pro875Ser	rs750956677	missense variant	-	NC_000016.10:g.1662788C>T	ExAC
CRAMP1	Q96RY5	p.Pro875Leu	rs756367996	missense variant	-	NC_000016.10:g.1662789C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys877Thr	rs1341993238	missense variant	-	NC_000016.10:g.1662795A>C	gnomAD
CRAMP1	Q96RY5	p.Arg879Gln	rs1450505016	missense variant	-	NC_000016.10:g.1662801G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg879Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1662801G>T	NCI-TCGA
CRAMP1	Q96RY5	p.Arg881Gln	rs749674521	missense variant	-	NC_000016.10:g.1662807G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg881Trp	rs780462220	missense variant	-	NC_000016.10:g.1662806C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg884Trp	rs1042294114	missense variant	-	NC_000016.10:g.1662815C>T	TOPMed
CRAMP1	Q96RY5	p.Lys885Ter	rs755172548	stop gained	-	NC_000016.10:g.1662818A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys885Met	rs779145584	missense variant	-	NC_000016.10:g.1662819A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro886Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1662821C>T	NCI-TCGA
CRAMP1	Q96RY5	p.Pro886Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1662822C>T	NCI-TCGA
CRAMP1	Q96RY5	p.Leu887Pro	rs772160637	missense variant	-	NC_000016.10:g.1662825T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg891Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1665057A>G	NCI-TCGA
CRAMP1	Q96RY5	p.Ser898Leu	rs768480875	missense variant	-	NC_000016.10:g.1665079C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser898Ter	rs768480875	stop gained	-	NC_000016.10:g.1665079C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu899Gly	rs1356678038	missense variant	-	NC_000016.10:g.1665082A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu899Lys	rs1210212849	missense variant	-	NC_000016.10:g.1665081G>A	gnomAD
CRAMP1	Q96RY5	p.Asn900His	rs1381055119	missense variant	-	NC_000016.10:g.1665084A>C	TOPMed
CRAMP1	Q96RY5	p.Asn900Lys	rs559271202	missense variant	-	NC_000016.10:g.1665086C>G	1000Genomes,TOPMed
CRAMP1	Q96RY5	p.Gln901Arg	rs761271868	missense variant	-	NC_000016.10:g.1665088A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.His903Arg	rs376521525	missense variant	-	NC_000016.10:g.1665094A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn904Ser	rs1012802667	missense variant	-	NC_000016.10:g.1665097A>G	TOPMed
CRAMP1	Q96RY5	p.Asn904Asp	rs1447328370	missense variant	-	NC_000016.10:g.1665096A>G	gnomAD
CRAMP1	Q96RY5	p.Val905Ile	rs1268806393	missense variant	-	NC_000016.10:g.1665099G>A	gnomAD
CRAMP1	Q96RY5	p.Cys906Tyr	rs1375672041	missense variant	-	NC_000016.10:g.1665103G>A	gnomAD
CRAMP1	Q96RY5	p.Ser907Phe	COSM3506483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1665106C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Phe908Leu	rs369831738	missense variant	-	NC_000016.10:g.1665108T>C	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Phe908Cys	rs765589851	missense variant	-	NC_000016.10:g.1665109T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile910Val	rs753123955	missense variant	-	NC_000016.10:g.1665114A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile910Met	rs373148310	missense variant	-	NC_000016.10:g.1665116C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu911Val	rs377270440	missense variant	-	NC_000016.10:g.1665117C>G	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser912Cys	rs745809507	missense variant	-	NC_000016.10:g.1665121C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser912Ala	rs781128527	missense variant	-	NC_000016.10:g.1665120T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asn913Asp	rs1392908277	missense variant	-	NC_000016.10:g.1665123A>G	gnomAD
CRAMP1	Q96RY5	p.Ser914Phe	rs769922762	missense variant	-	NC_000016.10:g.1665127C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser914Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1665127C>G	NCI-TCGA
CRAMP1	Q96RY5	p.Val916Ile	rs749145303	missense variant	-	NC_000016.10:g.1665132G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr917Ser	rs768325816	missense variant	-	NC_000016.10:g.1665136C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg919Lys	COSM967614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1666076G>A	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ser921Leu	rs1180347685	missense variant	-	NC_000016.10:g.1666082C>T	gnomAD
CRAMP1	Q96RY5	p.Ser921Thr	COSM967615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1666081T>A	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Arg923Trp	rs1445457686	missense variant	-	NC_000016.10:g.1666087C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg923Gln	rs746567769	missense variant	-	NC_000016.10:g.1666088G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile925Val	rs770253104	missense variant	-	NC_000016.10:g.1666093A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln926Leu	rs544773439	missense variant	-	NC_000016.10:g.1666097A>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln926Arg	rs544773439	missense variant	-	NC_000016.10:g.1666097A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu929Val	rs763322612	missense variant	-	NC_000016.10:g.1666105C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala933Thr	rs1464809357	missense variant	-	NC_000016.10:g.1666117G>A	gnomAD
CRAMP1	Q96RY5	p.Ala933Val	rs1304948996	missense variant	-	NC_000016.10:g.1666118C>T	gnomAD
CRAMP1	Q96RY5	p.Leu934Val	rs1379530094	missense variant	-	NC_000016.10:g.1666120C>G	gnomAD
CRAMP1	Q96RY5	p.Arg936Gln	rs764373660	missense variant	-	NC_000016.10:g.1666127G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg936Trp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1666126C>T	NCI-TCGA
CRAMP1	Q96RY5	p.Pro937Leu	rs774850278	missense variant	-	NC_000016.10:g.1666130C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile938Met	rs767829841	missense variant	-	NC_000016.10:g.1666134C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val939Met	rs1310352406	missense variant	-	NC_000016.10:g.1666135G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val939Leu	rs1310352406	missense variant	-	NC_000016.10:g.1666135G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys941Arg	rs750499768	missense variant	-	NC_000016.10:g.1666142A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val942Phe	rs1256334691	missense variant	-	NC_000016.10:g.1666144G>T	gnomAD
CRAMP1	Q96RY5	p.Pro945Leu	rs1260699884	missense variant	-	NC_000016.10:g.1666154C>T	TOPMed
CRAMP1	Q96RY5	p.Gln946Ter	rs1461970716	stop gained	-	NC_000016.10:g.1666156C>T	gnomAD
CRAMP1	Q96RY5	p.Gln946Pro	rs777790907	missense variant	-	NC_000016.10:g.1666157A>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln946Arg	rs777790907	missense variant	-	NC_000016.10:g.1666157A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala947Thr	rs1451340368	missense variant	-	NC_000016.10:g.1666159G>A	gnomAD
CRAMP1	Q96RY5	p.Thr948Met	rs766372583	missense variant	-	NC_000016.10:g.1666163C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser949Asn	rs754733822	missense variant	-	NC_000016.10:g.1666166G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.His950Gln	rs1407236917	missense variant	-	NC_000016.10:g.1666170C>A	gnomAD
CRAMP1	Q96RY5	p.Ala952Pro	rs748029109	missense variant	-	NC_000016.10:g.1666174G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser953Ile	rs756973137	missense variant	-	NC_000016.10:g.1666422G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser953Asn	rs756973137	missense variant	-	NC_000016.10:g.1666422G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser953Gly	rs757961173	missense variant	-	NC_000016.10:g.1666177A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile955Thr	rs1180518526	missense variant	-	NC_000016.10:g.1666428T>C	gnomAD
CRAMP1	Q96RY5	p.Ile955Val	rs368231819	missense variant	-	NC_000016.10:g.1666427A>G	1000Genomes,ESP,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile955Met	rs371924728	missense variant	-	NC_000016.10:g.1666429C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp956Asn	rs769013086	missense variant	-	NC_000016.10:g.1666430G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu957Ser	rs551703109	missense variant	-	NC_000016.10:g.1666434T>C	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala959Val	rs1163653973	missense variant	-	NC_000016.10:g.1666440C>T	gnomAD
CRAMP1	Q96RY5	p.Ser961Asn	rs773500036	missense variant	-	NC_000016.10:g.1666446G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser961Arg	rs1407889881	missense variant	-	NC_000016.10:g.1666445A>C	gnomAD
CRAMP1	Q96RY5	p.Gly963Ser	rs570491301	missense variant	-	NC_000016.10:g.1666451G>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly963Cys	rs570491301	missense variant	-	NC_000016.10:g.1666451G>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu965Arg	rs1328103825	missense variant	-	NC_000016.10:g.1666458T>G	TOPMed
CRAMP1	Q96RY5	p.Ser966Pro	rs1283758548	missense variant	-	NC_000016.10:g.1666460T>C	gnomAD
CRAMP1	Q96RY5	p.Gly967Arg	rs759698106	missense variant	-	NC_000016.10:g.1666463G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asn968Tyr	rs765042149	missense variant	-	NC_000016.10:g.1666466A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro969Ala	rs752700402	missense variant	-	NC_000016.10:g.1666469C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro969Ser	rs752700402	missense variant	-	NC_000016.10:g.1666469C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro971Thr	rs375018736	missense variant	-	NC_000016.10:g.1666475C>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp974Asn	rs1237141885	missense variant	-	NC_000016.10:g.1666484G>A	gnomAD
CRAMP1	Q96RY5	p.Asp974Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1666485A>G	NCI-TCGA
CRAMP1	Q96RY5	p.Glu976Gly	rs1018991461	missense variant	-	NC_000016.10:g.1666491A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu976Lys	rs566177647	missense variant	-	NC_000016.10:g.1666490G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly977Cys	rs369192985	missense variant	-	NC_000016.10:g.1666493G>T	ESP,TOPMed
CRAMP1	Q96RY5	p.Leu978Phe	rs780863297	missense variant	-	NC_000016.10:g.1666498G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly980Asp	rs372466817	missense variant	-	NC_000016.10:g.1666503G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile981Thr	rs1388990272	missense variant	-	NC_000016.10:g.1666506T>C	gnomAD
CRAMP1	Q96RY5	p.Ser982Pro	rs1265842180	missense variant	-	NC_000016.10:g.1666508T>C	TOPMed
CRAMP1	Q96RY5	p.Ser982Cys	rs1170337234	missense variant	-	NC_000016.10:g.1666509C>G	gnomAD
CRAMP1	Q96RY5	p.Leu984Val	rs779232207	missense variant	-	NC_000016.10:g.1666514C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu984Arg	rs1413754602	missense variant	-	NC_000016.10:g.1666515T>G	gnomAD
CRAMP1	Q96RY5	p.Ser985Phe	rs1331943292	missense variant	-	NC_000016.10:g.1666518C>T	gnomAD
CRAMP1	Q96RY5	p.Ser986Ala	rs748691370	missense variant	-	NC_000016.10:g.1666520T>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu988Lys	rs372834355	missense variant	-	NC_000016.10:g.1666526G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu988Gly	rs747427403	missense variant	-	NC_000016.10:g.1666527A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val989Met	rs1272377755	missense variant	-	NC_000016.10:g.1666529G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr990Met	rs61741505	missense variant	-	NC_000016.10:g.1666533C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr990Ser	rs1340665313	missense variant	-	NC_000016.10:g.1666532A>T	gnomAD
CRAMP1	Q96RY5	p.Ala992Gly	rs745884113	missense variant	-	NC_000016.10:g.1666539C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala992Val	rs745884113	missense variant	-	NC_000016.10:g.1666539C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala992Pro	rs1443838044	missense variant	-	NC_000016.10:g.1666538G>C	gnomAD
CRAMP1	Q96RY5	p.Ile993Leu	rs775501492	missense variant	-	NC_000016.10:g.1666541A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser994Leu	rs373808650	missense variant	-	NC_000016.10:g.1666545C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly995Val	rs1477638466	missense variant	-	NC_000016.10:g.1666548G>T	gnomAD
CRAMP1	Q96RY5	p.Gln996His	rs1404024130	missense variant	-	NC_000016.10:g.1666552G>C	gnomAD
CRAMP1	Q96RY5	p.Gln996Ter	rs984646961	stop gained	-	NC_000016.10:g.1666550C>T	TOPMed
CRAMP1	Q96RY5	p.Thr999Ile	rs761628477	missense variant	-	NC_000016.10:g.1666560C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr1001Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1666566C>G	NCI-TCGA
CRAMP1	Q96RY5	p.Asp1004Asn	rs767029837	missense variant	-	NC_000016.10:g.1666574G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1004Val	rs1433069840	missense variant	-	NC_000016.10:g.1666575A>T	gnomAD
CRAMP1	Q96RY5	p.Gly1005Ala	rs750105642	missense variant	-	NC_000016.10:g.1666578G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr1007Asn	rs753455308	missense variant	-	NC_000016.10:g.1666584C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1008Pro	rs1326049053	missense variant	-	NC_000016.10:g.1666587T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu1008His	rs1326049053	missense variant	-	NC_000016.10:g.1666587T>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1009Leu	rs1223761854	missense variant	-	NC_000016.10:g.1666590C>T	gnomAD
CRAMP1	Q96RY5	p.Thr1010Ile	rs1267164682	missense variant	-	NC_000016.10:g.1666593C>T	gnomAD
CRAMP1	Q96RY5	p.Val1011Met	rs201157275	missense variant	-	NC_000016.10:g.1666595G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1011Leu	rs201157275	missense variant	-	NC_000016.10:g.1666595G>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1011Ala	rs747333617	missense variant	-	NC_000016.10:g.1666596T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val1011Leu	rs201157275	missense variant	-	NC_000016.10:g.1666595G>C	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly1013Ser	rs1457519003	missense variant	-	NC_000016.10:g.1667335G>A	gnomAD
CRAMP1	Q96RY5	p.Ser1014Cys	rs969629329	missense variant	-	NC_000016.10:g.1667339C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1015Asn	rs768371106	missense variant	-	NC_000016.10:g.1667341G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1015Gly	rs1307829380	missense variant	-	NC_000016.10:g.1667342A>G	gnomAD
CRAMP1	Q96RY5	p.Ile1020Val	rs1307189316	missense variant	-	NC_000016.10:g.1667356A>G	gnomAD
CRAMP1	Q96RY5	p.Pro1021Ser	COSM3506489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1667359C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ser1022Leu	rs768738069	missense variant	-	NC_000016.10:g.1667363C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1022Thr	rs527913798	missense variant	-	NC_000016.10:g.1667362T>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Glu1027Gln	rs185409776	missense variant	-	NC_000016.10:g.1667377G>C	1000Genomes,gnomAD
CRAMP1	Q96RY5	p.Pro1028Leu	rs748076246	missense variant	-	NC_000016.10:g.1667381C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1031Gly	rs368602730	missense variant	-	NC_000016.10:g.1667390A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1031Val	rs368602730	missense variant	-	NC_000016.10:g.1667390A>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1032Gly	rs776441540	missense variant	-	NC_000016.10:g.1667392A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1032Arg	rs759056569	missense variant	-	NC_000016.10:g.1667394T>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Phe1033Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1667397C>A	NCI-TCGA
CRAMP1	Q96RY5	p.Gln1034His	rs368039138	missense variant	-	NC_000016.10:g.1667400G>C	ESP,ExAC,TOPMed
CRAMP1	Q96RY5	p.Gly1035Asp	rs759256028	missense variant	-	NC_000016.10:g.1667963G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1035Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1667962G>A	NCI-TCGA
CRAMP1	Q96RY5	p.Ser1036Leu	rs1406193372	missense variant	-	NC_000016.10:g.1667966C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1037Tyr	rs769621256	missense variant	-	NC_000016.10:g.1667969C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val1038Ala	rs1215038267	missense variant	-	NC_000016.10:g.1667972T>C	gnomAD
CRAMP1	Q96RY5	p.Val1038Leu	rs561147518	missense variant	-	NC_000016.10:g.1667971G>C	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1039Pro	rs1300368337	missense variant	-	NC_000016.10:g.1667975T>C	gnomAD
CRAMP1	Q96RY5	p.Leu1041Ser	rs750911902	missense variant	-	NC_000016.10:g.1667981T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1041Phe	rs1208235654	missense variant	-	NC_000016.10:g.1667982A>T	gnomAD
CRAMP1	Q96RY5	p.Leu1041Ile	rs768019391	missense variant	-	NC_000016.10:g.1667980T>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1042Pro	rs1032319962	missense variant	-	NC_000016.10:g.1667983T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1042Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1667984C>T	NCI-TCGA
CRAMP1	Q96RY5	p.Glu1043Asp	rs560160907	missense variant	-	NC_000016.10:g.1667988G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1047Ser	rs1053582606	missense variant	-	NC_000016.10:g.1667998G>T	TOPMed
CRAMP1	Q96RY5	p.Ala1047Gly	rs766728095	missense variant	-	NC_000016.10:g.1667999C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro1048Arg	rs369042741	missense variant	-	NC_000016.10:g.1668002C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1048Leu	rs369042741	missense variant	-	NC_000016.10:g.1668002C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu1049Ile	rs371340604	missense variant	-	NC_000016.10:g.1668004C>A	ESP,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu1049Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1668004C>T	NCI-TCGA
CRAMP1	Q96RY5	p.Gln1050His	rs1025460930	missense variant	-	NC_000016.10:g.1668009G>T	gnomAD
CRAMP1	Q96RY5	p.Gln1050Ter	rs1365253385	stop gained	-	NC_000016.10:g.1668007C>T	TOPMed
CRAMP1	Q96RY5	p.Gly1052Ala	rs1156343541	missense variant	-	NC_000016.10:g.1668014G>C	gnomAD
CRAMP1	Q96RY5	p.Gly1052Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1668014G>A	NCI-TCGA
CRAMP1	Q96RY5	p.Leu1053Pro	rs1011578658	missense variant	-	NC_000016.10:g.1668017T>C	TOPMed
CRAMP1	Q96RY5	p.Leu1053Phe	rs1459517777	missense variant	-	NC_000016.10:g.1668016C>T	TOPMed
CRAMP1	Q96RY5	p.Ile1055Val	rs528913473	missense variant	-	NC_000016.10:g.1668022A>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile1055Thr	rs1456603059	missense variant	-	NC_000016.10:g.1668023T>C	TOPMed
CRAMP1	Q96RY5	p.Pro1056Ser	rs777708207	missense variant	-	NC_000016.10:g.1668025C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1056Leu	rs757328704	missense variant	-	NC_000016.10:g.1668026C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1056Thr	rs777708207	missense variant	-	NC_000016.10:g.1668025C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu1057Pro	rs769532726	missense variant	-	NC_000016.10:g.1668029T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1057Arg	rs769532726	missense variant	-	NC_000016.10:g.1668029T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1058Phe	COSM3969408	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1668032C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ser1059Leu	rs1318740949	missense variant	-	NC_000016.10:g.1668035C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1060Leu	rs773981549	missense variant	-	NC_000016.10:g.1668038C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1060Ala	rs527303179	missense variant	-	NC_000016.10:g.1668037T>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1062Gly	rs201284222	missense variant	-	NC_000016.10:g.1668043A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1062Asn	rs1269986707	missense variant	-	NC_000016.10:g.1668044G>A	gnomAD
CRAMP1	Q96RY5	p.Ser1063Cys	rs1270563399	missense variant	-	NC_000016.10:g.1668047C>G	TOPMed
CRAMP1	Q96RY5	p.Ser1064Cys	COSM1478557	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1668049A>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Thr1065Ser	rs1222139627	missense variant	-	NC_000016.10:g.1668052A>T	TOPMed
CRAMP1	Q96RY5	p.Arg1066Gln	rs776947246	missense variant	-	NC_000016.10:g.1668056G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1069Leu	rs961673221	missense variant	-	NC_000016.10:g.1668065C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1070Ala	rs201809618	missense variant	-	NC_000016.10:g.1668067C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1072Ala	rs763487231	missense variant	-	NC_000016.10:g.1668074T>C	gnomAD
CRAMP1	Q96RY5	p.Val1072Ile	rs752875816	missense variant	-	NC_000016.10:g.1668073G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1074Asp	rs1457817094	missense variant	-	NC_000016.10:g.1668080C>A	TOPMed
CRAMP1	Q96RY5	p.Leu1076Phe	rs1389368940	missense variant	-	NC_000016.10:g.1668085C>T	TOPMed
CRAMP1	Q96RY5	p.Asp1077Asn	rs986388090	missense variant	-	NC_000016.10:g.1668088G>A	TOPMed
CRAMP1	Q96RY5	p.Ile1078Val	rs1289205136	missense variant	-	NC_000016.10:g.1668091A>G	gnomAD
CRAMP1	Q96RY5	p.Ile1078Thr	rs1176368479	missense variant	-	NC_000016.10:g.1668092T>C	TOPMed
CRAMP1	Q96RY5	p.Ile1078Phe	rs1289205136	missense variant	-	NC_000016.10:g.1668091A>T	gnomAD
CRAMP1	Q96RY5	p.Ser1079Phe	COSM4487826	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1668095C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Pro1083Leu	rs1016400262	missense variant	-	NC_000016.10:g.1668107C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1084Ser	rs61746451	missense variant	-	NC_000016.10:g.1668109C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1086Val	rs755987546	missense variant	-	NC_000016.10:g.1668116A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1086Gly	rs755987546	missense variant	-	NC_000016.10:g.1668116A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala1087Val	rs376251227	missense variant	-	NC_000016.10:g.1668119C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1087Thr	rs1188362873	missense variant	-	NC_000016.10:g.1668118G>A	gnomAD
CRAMP1	Q96RY5	p.Gln1090Arg	rs747693903	missense variant	-	NC_000016.10:g.1668128A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Glu1092Lys	rs141603777	missense variant	-	NC_000016.10:g.1668133G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1094Thr	COSM4832480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1668139G>A	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Thr1095Ile	rs1256916957	missense variant	-	NC_000016.10:g.1668143C>T	TOPMed
CRAMP1	Q96RY5	p.His1096Asp	rs777141622	missense variant	-	NC_000016.10:g.1668145C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1099Glu	rs1380587649	missense variant	-	NC_000016.10:g.1668156C>G	gnomAD
CRAMP1	Q96RY5	p.Asp1099Asn	rs759832189	missense variant	-	NC_000016.10:g.1668154G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1100Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1668157T>C	NCI-TCGA
CRAMP1	Q96RY5	p.Ile1102Met	rs539021325	missense variant	-	NC_000016.10:g.1668165T>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu1103Gln	rs1435909592	missense variant	-	NC_000016.10:g.1668166G>C	TOPMed
CRAMP1	Q96RY5	p.Ile1104Phe	rs1342065340	missense variant	-	NC_000016.10:g.1668169A>T	gnomAD
CRAMP1	Q96RY5	p.Ala1105Thr	rs763071302	missense variant	-	NC_000016.10:g.1668172G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile1106Val	rs751554390	missense variant	-	NC_000016.10:g.1668175A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1107Gly	rs1240734764	missense variant	-	NC_000016.10:g.1668178A>G	gnomAD
CRAMP1	Q96RY5	p.Ser1108Thr	rs1462225676	missense variant	-	NC_000016.10:g.1668181T>A	gnomAD
CRAMP1	Q96RY5	p.Gly1109Arg	rs551374666	missense variant	-	NC_000016.10:g.1668184G>C	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly1109Ser	rs551374666	missense variant	-	NC_000016.10:g.1668184G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Tyr1111Ser	rs750395226	missense variant	-	NC_000016.10:g.1668191A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1112Ser	rs779703361	missense variant	-	NC_000016.10:g.1668193G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly1112Asp	rs767705444	missense variant	-	NC_000016.10:g.1669001G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1115Ile	rs750593408	missense variant	-	NC_000016.10:g.1669009G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val1115Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1669010T>C	NCI-TCGA
CRAMP1	Q96RY5	p.Pro1116His	rs1223697357	missense variant	-	NC_000016.10:g.1669013C>A	gnomAD
CRAMP1	Q96RY5	p.Pro1116Ala	rs760671014	missense variant	-	NC_000016.10:g.1669012C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1116Ser	rs760671014	missense variant	-	NC_000016.10:g.1669012C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu1117Pro	rs1256830369	missense variant	-	NC_000016.10:g.1669016T>C	TOPMed
CRAMP1	Q96RY5	p.Ser1118Phe	rs1347846882	missense variant	-	NC_000016.10:g.1669019C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1118Pro	rs374312197	missense variant	-	NC_000016.10:g.1669018T>C	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1119Ala	rs753534037	missense variant	-	NC_000016.10:g.1669021C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro1119Leu	COSM3506493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1669022C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ala1120Val	COSM4058672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1669025C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Leu1122Met	rs1490157045	missense variant	-	NC_000016.10:g.1669030C>A	gnomAD
CRAMP1	Q96RY5	p.Gly1124Val	rs1229212450	missense variant	-	NC_000016.10:g.1669037G>T	TOPMed
CRAMP1	Q96RY5	p.Ser1125Asn	rs200956828	missense variant	-	NC_000016.10:g.1669040G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1125Ile	rs200956828	missense variant	-	NC_000016.10:g.1669040G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1125Gly	rs201896175	missense variant	-	NC_000016.10:g.1669039A>G	1000Genomes
CRAMP1	Q96RY5	p.Asp1126His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1669042G>C	NCI-TCGA
CRAMP1	Q96RY5	p.Ser1127Asn	rs1363316585	missense variant	-	NC_000016.10:g.1669046G>A	gnomAD
CRAMP1	Q96RY5	p.Ser1127Arg	rs1200325365	missense variant	-	NC_000016.10:g.1669045A>C	gnomAD
CRAMP1	Q96RY5	p.Ser1128Tyr	rs113077689	missense variant	-	NC_000016.10:g.1669049C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1128Cys	rs113077689	missense variant	-	NC_000016.10:g.1669049C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1132Thr	rs746569774	missense variant	-	NC_000016.10:g.1669060C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1133Ala	rs1301707439	missense variant	-	NC_000016.10:g.1669063T>G	gnomAD
CRAMP1	Q96RY5	p.Ser1133Thr	rs1301707439	missense variant	-	NC_000016.10:g.1669063T>A	gnomAD
CRAMP1	Q96RY5	p.Pro1134Thr	rs370509468	missense variant	-	NC_000016.10:g.1669066C>A	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro1134Leu	rs780635813	missense variant	-	NC_000016.10:g.1669067C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1137Arg	rs1449540806	missense variant	-	NC_000016.10:g.1669077C>G	TOPMed
CRAMP1	Q96RY5	p.Gln1139Ter	COSM1478558	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.1669081C>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.His1141Leu	rs774926972	missense variant	-	NC_000016.10:g.1669088A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.His1141Pro	rs774926972	missense variant	-	NC_000016.10:g.1669088A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.His1141Tyr	rs1279611151	missense variant	-	NC_000016.10:g.1669087C>T	gnomAD
CRAMP1	Q96RY5	p.Ile1143Met	rs772474983	missense variant	-	NC_000016.10:g.1669095C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1144Thr	rs773398102	missense variant	-	NC_000016.10:g.1669096G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr1147Ser	rs766176053	missense variant	-	NC_000016.10:g.1669105A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr1147Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1669105A>G	NCI-TCGA
CRAMP1	Q96RY5	p.His1148Arg	rs776639510	missense variant	-	NC_000016.10:g.1669109A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1149Asn	rs765075461	missense variant	-	NC_000016.10:g.1669111G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro1150His	rs752545788	missense variant	-	NC_000016.10:g.1669115C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Tyr1153Cys	rs1162157575	missense variant	-	NC_000016.10:g.1669124A>G	gnomAD
CRAMP1	Q96RY5	p.Ser1155Asn	rs1425758394	missense variant	-	NC_000016.10:g.1669130G>A	gnomAD
CRAMP1	Q96RY5	p.Asp1156Glu	rs763774914	missense variant	-	NC_000016.10:g.1669134C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1157Pro	rs1393943389	missense variant	-	NC_000016.10:g.1669135T>C	gnomAD
CRAMP1	Q96RY5	p.Ser1157Cys	rs751022982	missense variant	-	NC_000016.10:g.1669136C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1159Asn	rs780359215	missense variant	-	NC_000016.10:g.1669141G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1161Leu	rs1243703679	missense variant	-	NC_000016.10:g.1669148C>T	gnomAD
CRAMP1	Q96RY5	p.Phe1166Val	rs368858091	missense variant	-	NC_000016.10:g.1669162T>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile1170Val	rs1286446160	missense variant	-	NC_000016.10:g.1670672A>G	TOPMed
CRAMP1	Q96RY5	p.Ile1170Thr	rs1452975315	missense variant	-	NC_000016.10:g.1670673T>C	gnomAD
CRAMP1	Q96RY5	p.Ser1171Tyr	rs1287100171	missense variant	-	NC_000016.10:g.1670676C>A	gnomAD
CRAMP1	Q96RY5	p.Pro1172Ala	rs1314359484	missense variant	-	NC_000016.10:g.1670678C>G	gnomAD
CRAMP1	Q96RY5	p.Glu1173Gln	rs1363980850	missense variant	-	NC_000016.10:g.1670681G>C	gnomAD
CRAMP1	Q96RY5	p.Ser1175Gly	rs1382607334	missense variant	-	NC_000016.10:g.1670687A>G	gnomAD
CRAMP1	Q96RY5	p.Arg1176Trp	rs959717787	missense variant	-	NC_000016.10:g.1670690C>T	TOPMed
CRAMP1	Q96RY5	p.Arg1176Gln	rs771116293	missense variant	-	NC_000016.10:g.1670691G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys1177Arg	rs776750162	missense variant	-	NC_000016.10:g.1670694A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys1177Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1670695G>T	NCI-TCGA
CRAMP1	Q96RY5	p.Met1178Ile	rs745972962	missense variant	-	NC_000016.10:g.1670698G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1180Leu	rs377109203	missense variant	-	NC_000016.10:g.1670703C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr1181Ile	rs1441429015	missense variant	-	NC_000016.10:g.1670706C>T	TOPMed
CRAMP1	Q96RY5	p.Ile1183Ser	rs59339153	missense variant	-	NC_000016.10:g.1670712T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile1183Phe	rs1215143307	missense variant	-	NC_000016.10:g.1670711A>T	gnomAD
CRAMP1	Q96RY5	p.Ile1183Val	rs1215143307	missense variant	-	NC_000016.10:g.1670711A>G	gnomAD
CRAMP1	Q96RY5	p.Ile1183Thr	rs59339153	missense variant	-	NC_000016.10:g.1670712T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr1185Ile	rs376262203	missense variant	-	NC_000016.10:g.1670718C>T	ESP,TOPMed
CRAMP1	Q96RY5	p.Asn1186Asp	COSM1376151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1670720A>G	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Ser1187Gly	rs774073119	missense variant	-	NC_000016.10:g.1670723A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1188Ser	rs1268568834	missense variant	-	NC_000016.10:g.1670726G>A	gnomAD
CRAMP1	Q96RY5	p.Gly1188Asp	rs1479272511	missense variant	-	NC_000016.10:g.1670727G>A	gnomAD
CRAMP1	Q96RY5	p.Leu1192Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1670738C>T	NCI-TCGA
CRAMP1	Q96RY5	p.Pro1194Leu	rs947619230	missense variant	-	NC_000016.10:g.1670745C>T	-
CRAMP1	Q96RY5	p.Gly1199Arg	rs760286999	missense variant	-	NC_000016.10:g.1670759G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1201Leu	rs765778573	missense variant	-	NC_000016.10:g.1670766C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg1202Trp	rs534702752	missense variant	-	NC_000016.10:g.1670768C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1202Gly	rs534702752	missense variant	-	NC_000016.10:g.1670768C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1202Gln	rs1285496501	missense variant	-	NC_000016.10:g.1670769G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1204Leu	rs1223331349	missense variant	-	NC_000016.10:g.1670775C>T	gnomAD
CRAMP1	Q96RY5	p.Phe1205Leu	rs1304933732	missense variant	-	NC_000016.10:g.1670779T>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1206Met	rs1319280736	missense variant	-	NC_000016.10:g.1670780G>A	gnomAD
CRAMP1	Q96RY5	p.Ser1207Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1670784C>T	NCI-TCGA
CRAMP1	Q96RY5	p.Arg1208Gly	rs936715308	missense variant	-	NC_000016.10:g.1670786A>G	TOPMed
CRAMP1	Q96RY5	p.Ser1209Phe	rs757470497	missense variant	-	NC_000016.10:g.1670790C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1210Arg	rs1347214052	missense variant	-	NC_000016.10:g.1670793T>G	TOPMed
CRAMP1	Q96RY5	p.Val1213Ile	rs371068391	missense variant	-	NC_000016.10:g.1670801G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1214Val	rs1469284862	missense variant	-	NC_000016.10:g.1670805C>T	gnomAD
CRAMP1	Q96RY5	p.Glu1215Gly	rs1174993691	missense variant	-	NC_000016.10:g.1670808A>G	gnomAD
CRAMP1	Q96RY5	p.Val1216Ala	rs1336134099	missense variant	-	NC_000016.10:g.1673882T>C	gnomAD
CRAMP1	Q96RY5	p.Val1217Leu	rs778740988	missense variant	-	NC_000016.10:g.1673884G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met1224Val	rs771764619	missense variant	-	NC_000016.10:g.1673905A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Met1224Thr	rs773124425	missense variant	-	NC_000016.10:g.1673906T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Met1225Ile	COSM4844201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1673910G>T	NCI-TCGA Cosmic
CRAMP1	Q96RY5	p.Asn1226Ser	rs1177959450	missense variant	-	NC_000016.10:g.1673912A>G	TOPMed
CRAMP1	Q96RY5	p.Asn1228Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1673918A>G	NCI-TCGA
CRAMP1	Q96RY5	p.Ile1233Val	rs1318131552	missense variant	-	NC_000016.10:g.1673932A>G	gnomAD
CRAMP1	Q96RY5	p.Ser1234Ala	rs1241632488	missense variant	-	NC_000016.10:g.1673935T>G	TOPMed
CRAMP1	Q96RY5	p.Ser1234Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1673935T>C	NCI-TCGA
CRAMP1	Q96RY5	p.Ser1234Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1673936C>G	NCI-TCGA
CRAMP1	Q96RY5	p.Arg1235Leu	rs751287265	missense variant	-	NC_000016.10:g.1673939G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1235Trp	rs770753472	missense variant	-	NC_000016.10:g.1673938C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1235Gln	rs751287265	missense variant	-	NC_000016.10:g.1673939G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1235Pro	rs751287265	missense variant	-	NC_000016.10:g.1673939G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn1237Ser	rs954450533	missense variant	-	NC_000016.10:g.1673945A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn1237His	rs774732375	missense variant	-	NC_000016.10:g.1673944A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asn1237Asp	rs774732375	missense variant	-	NC_000016.10:g.1673944A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala1240Ser	rs1018206400	missense variant	-	NC_000016.10:g.1673953G>T	gnomAD
CRAMP1	Q96RY5	p.Gln1241Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.1673957A>G	NCI-TCGA
CRAMP1	Q96RY5	p.Ile1245Phe	rs767759770	missense variant	-	NC_000016.10:g.1673968A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala1246Ser	rs367605120	missense variant	-	NC_000016.10:g.1673971G>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1246Val	rs1403911087	missense variant	-	NC_000016.10:g.1673972C>T	gnomAD
CRAMP1	Q96RY5	p.Ala1246Thr	rs367605120	missense variant	-	NC_000016.10:g.1673971G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1248Leu	rs753870206	missense variant	-	NC_000016.10:g.1673978C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg1250His	rs778839791	missense variant	-	NC_000016.10:g.1673984G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1250Cys	rs755030192	missense variant	-	NC_000016.10:g.1673983C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg1251Gln	rs929504482	missense variant	-	NC_000016.10:g.1673987G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1251Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.1673986C>T	NCI-TCGA
CRAMP1	Q96RY5	p.Glu1252Ter	rs1451547341	stop gained	-	NC_000016.10:g.1673989G>T	TOPMed
CRAMP1	Q96RY5	p.Asp1256Gly	rs368501359	missense variant	-	NC_000016.10:g.1674002A>G	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1256Val	rs368501359	missense variant	-	NC_000016.10:g.1674002A>T	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1257Asp	rs532337782	missense variant	-	NC_000016.10:g.1674005G>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1258Ala	rs746838954	missense variant	-	NC_000016.10:g.1674008G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1261Ser	rs1283560875	missense variant	-	NC_000016.10:g.1674016G>A	gnomAD
CRAMP1	Q96RY5	p.Gly1261Asp	rs1445184712	missense variant	-	NC_000016.10:g.1674017G>A	gnomAD
CRAMP1	Q96RY5	p.Ala1263Thr	rs199923669	missense variant	-	NC_000016.10:g.1674022G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1264Ile	rs1383850584	missense variant	-	NC_000016.10:g.1674025G>A	TOPMed
CRAMP1	Q96RY5	p.Asp1266Asn	rs1478271343	missense variant	-	NC_000016.10:g.1674031G>A	gnomAD
CRAMP1	Q96RY5	p.Leu1267Arg	rs1427446560	missense variant	-	NC_000016.10:g.1674035T>G	gnomAD
CRAMP1	Q96RY5	p.Ser1268Cys	rs1479085233	missense variant	-	NC_000016.10:g.1674038C>G	gnomAD
CRAMP1	Q96RY5	p.Gly8Cys	rs1219238128	missense variant	-	NC_000016.10:g.1614661G>T	gnomAD
CRAMP1	Q96RY5	p.Glu12Lys	rs971145177	missense variant	-	NC_000016.10:g.1614673G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu12Asp	rs1187084243	missense variant	-	NC_000016.10:g.1614675G>T	gnomAD
CRAMP1	Q96RY5	p.Asp13Glu	rs980268947	missense variant	-	NC_000016.10:g.1614678C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu18Val	rs755456226	missense variant	-	NC_000016.10:g.1614691C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly19Ala	rs926923881	missense variant	-	NC_000016.10:g.1614695G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly19Asp	rs926923881	missense variant	-	NC_000016.10:g.1614695G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg21Gly	rs1470687329	missense variant	-	NC_000016.10:g.1614700C>G	gnomAD
CRAMP1	Q96RY5	p.Arg21Pro	rs1394012662	missense variant	-	NC_000016.10:g.1614701G>C	TOPMed
CRAMP1	Q96RY5	p.Arg21Trp	rs1470687329	missense variant	-	NC_000016.10:g.1614700C>T	gnomAD
CRAMP1	Q96RY5	p.Glu26Asp	rs1387828253	missense variant	-	NC_000016.10:g.1614717G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu29Lys	rs1320200243	missense variant	-	NC_000016.10:g.1614724G>A	gnomAD
CRAMP1	Q96RY5	p.Gly34Ser	rs1286586315	missense variant	-	NC_000016.10:g.1614739G>A	TOPMed
CRAMP1	Q96RY5	p.Gly35Ser	rs1343092066	missense variant	-	NC_000016.10:g.1614742G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp37Asn	rs957076005	missense variant	-	NC_000016.10:g.1614748G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp37Tyr	rs957076005	missense variant	-	NC_000016.10:g.1614748G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala38Val	rs1281129131	missense variant	-	NC_000016.10:g.1614752C>T	TOPMed
CRAMP1	Q96RY5	p.Ala39Gly	rs1234857064	missense variant	-	NC_000016.10:g.1614755C>G	TOPMed
CRAMP1	Q96RY5	p.Glu41Ala	rs1349986954	missense variant	-	NC_000016.10:g.1614761A>C	TOPMed
CRAMP1	Q96RY5	p.Gly44Val	rs1268155436	missense variant	-	NC_000016.10:g.1614770G>T	TOPMed
CRAMP1	Q96RY5	p.Gly44Asp	rs1268155436	missense variant	-	NC_000016.10:g.1614770G>A	TOPMed
CRAMP1	Q96RY5	p.Lys46Thr	rs1326855765	missense variant	-	NC_000016.10:g.1614776A>C	TOPMed
CRAMP1	Q96RY5	p.Arg47Ser	rs758590705	missense variant	-	NC_000016.10:g.1614780G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp48Asn	rs1412544135	missense variant	-	NC_000016.10:g.1614781G>A	TOPMed
CRAMP1	Q96RY5	p.Glu49Ter	rs1193029475	stop gained	-	NC_000016.10:g.1614784G>T	gnomAD
CRAMP1	Q96RY5	p.Glu49Gly	rs1374263754	missense variant	-	NC_000016.10:g.1614785A>G	TOPMed
CRAMP1	Q96RY5	p.Thr51Asn	rs778126645	missense variant	-	NC_000016.10:g.1614791C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro52Leu	rs1199511068	missense variant	-	NC_000016.10:g.1614794C>T	gnomAD
CRAMP1	Q96RY5	p.Pro52Ala	rs1481180447	missense variant	-	NC_000016.10:g.1614793C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala54Thr	rs1244264287	missense variant	-	NC_000016.10:g.1614799G>A	TOPMed
CRAMP1	Q96RY5	p.Gly55Ser	rs1455173074	missense variant	-	NC_000016.10:g.1614802G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala56Val	rs770853672	missense variant	-	NC_000016.10:g.1614806C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp57Asn	rs1404587625	missense variant	-	NC_000016.10:g.1614808G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly58Cys	rs1258251649	missense variant	-	NC_000016.10:g.1614811G>T	TOPMed
CRAMP1	Q96RY5	p.Pro59Ser	rs1343888012	missense variant	-	NC_000016.10:g.1614814C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro60Ser	rs776510604	missense variant	-	NC_000016.10:g.1614817C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro60Ala	rs776510604	missense variant	-	NC_000016.10:g.1614817C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala61Thr	rs1049843132	missense variant	-	NC_000016.10:g.1614820G>A	TOPMed
CRAMP1	Q96RY5	p.Pro62Thr	rs1350015646	missense variant	-	NC_000016.10:g.1614823C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro62Leu	rs1007968040	missense variant	-	NC_000016.10:g.1614824C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro62His	rs1007968040	missense variant	-	NC_000016.10:g.1614824C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro62Ser	rs1350015646	missense variant	-	NC_000016.10:g.1614823C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly64Ser	rs1281811404	missense variant	-	NC_000016.10:g.1614829G>A	gnomAD
CRAMP1	Q96RY5	p.Ala68Val	rs189020189	missense variant	-	NC_000016.10:g.1614842C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser70Phe	rs971976818	missense variant	-	NC_000016.10:g.1614848C>T	TOPMed
CRAMP1	Q96RY5	p.Pro72Leu	rs1232439679	missense variant	-	NC_000016.10:g.1614854C>T	TOPMed
CRAMP1	Q96RY5	p.Ser75Asn	rs1203663202	missense variant	-	NC_000016.10:g.1614863G>A	TOPMed
CRAMP1	Q96RY5	p.Pro76Ser	rs1001291682	missense variant	-	NC_000016.10:g.1614865C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln77Arg	rs1259707658	missense variant	-	NC_000016.10:g.1614869A>G	TOPMed
CRAMP1	Q96RY5	p.His81Arg	rs1211558311	missense variant	-	NC_000016.10:g.1614881A>G	TOPMed
CRAMP1	Q96RY5	p.Arg84Leu	rs1250582415	missense variant	-	NC_000016.10:g.1614890G>T	gnomAD
CRAMP1	Q96RY5	p.Ser86Asn	rs1364337672	missense variant	-	NC_000016.10:g.1614896G>A	gnomAD
CRAMP1	Q96RY5	p.Ser86Arg	rs1034098447	missense variant	-	NC_000016.10:g.1614895A>C	TOPMed
CRAMP1	Q96RY5	p.Val87Ala	rs1472395272	missense variant	-	NC_000016.10:g.1614899T>C	gnomAD
CRAMP1	Q96RY5	p.Arg88Trp	rs1161248304	missense variant	-	NC_000016.10:g.1614901C>T	gnomAD
CRAMP1	Q96RY5	p.Gln90His	rs1304036157	missense variant	-	NC_000016.10:g.1614909G>T	gnomAD
CRAMP1	Q96RY5	p.Ser91Gly	rs774899859	missense variant	-	NC_000016.10:g.1614910A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro94Leu	rs957023853	missense variant	-	NC_000016.10:g.1614920C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro94His	rs957023853	missense variant	-	NC_000016.10:g.1614920C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg95Gly	rs1336875615	missense variant	-	NC_000016.10:g.1614922A>G	gnomAD
CRAMP1	Q96RY5	p.Arg95Lys	rs762499648	missense variant	-	NC_000016.10:g.1614923G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys96Arg	rs1362097385	missense variant	-	NC_000016.10:g.1614926A>G	gnomAD
CRAMP1	Q96RY5	p.Lys96Glu	rs1313536828	missense variant	-	NC_000016.10:g.1614925A>G	gnomAD
CRAMP1	Q96RY5	p.Pro98Ser	rs1273510180	missense variant	-	NC_000016.10:g.1614931C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro98His	rs1481843454	missense variant	-	NC_000016.10:g.1614932C>A	gnomAD
CRAMP1	Q96RY5	p.Pro99Arg	rs1441332624	missense variant	-	NC_000016.10:g.1614935C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro99Gln	rs1441332624	missense variant	-	NC_000016.10:g.1614935C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro99Leu	rs1441332624	missense variant	-	NC_000016.10:g.1614935C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro99Thr	rs1250533440	missense variant	-	NC_000016.10:g.1614934C>A	gnomAD
CRAMP1	Q96RY5	p.Ser100Asn	rs761391734	missense variant	-	NC_000016.10:g.1614938G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser100Ile	rs761391734	missense variant	-	NC_000016.10:g.1614938G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala101Val	rs766748223	missense variant	-	NC_000016.10:g.1614941C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala101Thr	rs1386992172	missense variant	-	NC_000016.10:g.1614940G>A	gnomAD
CRAMP1	Q96RY5	p.Val102Ala	rs959779059	missense variant	-	NC_000016.10:g.1614944T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly103Val	rs1466295769	missense variant	-	NC_000016.10:g.1614947G>T	gnomAD
CRAMP1	Q96RY5	p.Ala107Gly	rs867649752	missense variant	-	NC_000016.10:g.1614959C>G	TOPMed
CRAMP1	Q96RY5	p.Ala107Asp	rs867649752	missense variant	-	NC_000016.10:g.1614959C>A	TOPMed
CRAMP1	Q96RY5	p.Ser110Leu	rs1189367719	missense variant	-	NC_000016.10:g.1614968C>T	gnomAD
CRAMP1	Q96RY5	p.Gly111Ala	rs1241675039	missense variant	-	NC_000016.10:g.1614971G>C	gnomAD
CRAMP1	Q96RY5	p.Gly114Val	rs1273580901	missense variant	-	NC_000016.10:g.1614980G>T	TOPMed
CRAMP1	Q96RY5	p.Gly119Asp	rs573480682	missense variant	-	NC_000016.10:g.1625982G>A	1000Genomes
CRAMP1	Q96RY5	p.Gly120Val	rs150953427	missense variant	-	NC_000016.10:g.1625985G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser123Trp	rs773796360	missense variant	-	NC_000016.10:g.1625994C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser123Leu	rs773796360	missense variant	-	NC_000016.10:g.1625994C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn126Tyr	rs1348614428	missense variant	-	NC_000016.10:g.1626002A>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn126Ile	rs1208975775	missense variant	-	NC_000016.10:g.1626003A>T	TOPMed
CRAMP1	Q96RY5	p.Ser128Phe	rs1247864332	missense variant	-	NC_000016.10:g.1626009C>T	gnomAD
CRAMP1	Q96RY5	p.Ser128Pro	rs1221081961	missense variant	-	NC_000016.10:g.1626008T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala131Val	rs761476573	missense variant	-	NC_000016.10:g.1626018C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala134Val	rs1203917411	missense variant	-	NC_000016.10:g.1626027C>T	gnomAD
CRAMP1	Q96RY5	p.Ser139Leu	rs922040781	missense variant	-	NC_000016.10:g.1626042C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg140Cys	rs1178329467	missense variant	-	NC_000016.10:g.1626044C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg140His	rs189953736	missense variant	-	NC_000016.10:g.1626045G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser141Phe	rs904231704	missense variant	-	NC_000016.10:g.1626048C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser141Thr	rs932054082	missense variant	-	NC_000016.10:g.1626047T>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser143Pro	rs1357472024	missense variant	-	NC_000016.10:g.1626053T>C	TOPMed
CRAMP1	Q96RY5	p.Arg144Trp	rs1385486571	missense variant	-	NC_000016.10:g.1626056C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg144Gln	rs1043739025	missense variant	-	NC_000016.10:g.1626057G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu146Ile	rs1408941516	missense variant	-	NC_000016.10:g.1626062T>A	gnomAD
CRAMP1	Q96RY5	p.Gly147Arg	rs1195429403	missense variant	-	NC_000016.10:g.1626065G>A	TOPMed
CRAMP1	Q96RY5	p.Ser148Phe	rs776901191	missense variant	-	NC_000016.10:g.1626069C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly150Ser	rs759924595	missense variant	-	NC_000016.10:g.1626074G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu152Asp	rs1302237508	missense variant	-	NC_000016.10:g.1626082G>C	gnomAD
CRAMP1	Q96RY5	p.Lys157Arg	rs954424216	missense variant	-	NC_000016.10:g.1626096A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg160Trp	rs1008535036	missense variant	-	NC_000016.10:g.1626104C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr168Ala	rs1214261343	missense variant	-	NC_000016.10:g.1626128A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys171Glu	rs1205257628	missense variant	-	NC_000016.10:g.1626137A>G	gnomAD
CRAMP1	Q96RY5	p.Gly182Arg	rs1481117171	missense variant	-	NC_000016.10:g.1632215G>A	gnomAD
CRAMP1	Q96RY5	p.Lys183Gln	rs768535917	missense variant	-	NC_000016.10:g.1632218A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala187Val	rs778425846	missense variant	-	NC_000016.10:g.1632231C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln189His	rs1275540838	missense variant	-	NC_000016.10:g.1632238G>C	gnomAD
CRAMP1	Q96RY5	p.Asn191Thr	rs771761990	missense variant	-	NC_000016.10:g.1632243A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asn191Ser	rs771761990	missense variant	-	NC_000016.10:g.1632243A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala193Val	rs772907182	missense variant	-	NC_000016.10:g.1632249C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro202Leu	rs1284524026	missense variant	-	NC_000016.10:g.1632276C>T	gnomAD
CRAMP1	Q96RY5	p.Ala203Val	rs374087962	missense variant	-	NC_000016.10:g.1632279C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala203Gly	rs374087962	missense variant	-	NC_000016.10:g.1632279C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg213Cys	rs1447922714	missense variant	-	NC_000016.10:g.1632308C>T	gnomAD
CRAMP1	Q96RY5	p.Arg218Cys	rs1266283755	missense variant	-	NC_000016.10:g.1632323C>T	gnomAD
CRAMP1	Q96RY5	p.Ile227Leu	rs1199446334	missense variant	-	NC_000016.10:g.1632350A>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile227Val	rs1199446334	missense variant	-	NC_000016.10:g.1632350A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp228Gly	rs374865451	missense variant	-	NC_000016.10:g.1632354A>G	ESP,TOPMed
CRAMP1	Q96RY5	p.Asp228Asn	rs767702181	missense variant	-	NC_000016.10:g.1632353G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp230Asn	rs751986801	missense variant	-	NC_000016.10:g.1632359G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.His231Asn	rs756236974	missense variant	-	NC_000016.10:g.1632362C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Phe233Leu	rs754756618	missense variant	-	NC_000016.10:g.1637826T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Phe233Val	rs754756618	missense variant	-	NC_000016.10:g.1637826T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg235Gly	rs765227718	missense variant	-	NC_000016.10:g.1637832C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg235Gln	rs374268526	missense variant	-	NC_000016.10:g.1637833G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg235Ter	rs765227718	stop gained	-	NC_000016.10:g.1637832C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser241Phe	rs945205606	missense variant	-	NC_000016.10:g.1637851C>T	TOPMed
CRAMP1	Q96RY5	p.Gln242Arg	rs777373587	missense variant	-	NC_000016.10:g.1637854A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Tyr245Cys	rs1335299316	missense variant	-	NC_000016.10:g.1637863A>G	gnomAD
CRAMP1	Q96RY5	p.Leu247Val	rs1385499777	missense variant	-	NC_000016.10:g.1637868C>G	gnomAD
CRAMP1	Q96RY5	p.Cys249Arg	rs1299312837	missense variant	-	NC_000016.10:g.1637874T>C	TOPMed
CRAMP1	Q96RY5	p.Gly251Ser	rs749735014	missense variant	-	NC_000016.10:g.1637880G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu252Lys	rs769148788	missense variant	-	NC_000016.10:g.1637883G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg254Cys	rs1228996874	missense variant	-	NC_000016.10:g.1637889C>T	gnomAD
CRAMP1	Q96RY5	p.Lys255Glu	rs774802113	missense variant	-	NC_000016.10:g.1637892A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile257Thr	rs1201762645	missense variant	-	NC_000016.10:g.1637899T>C	gnomAD
CRAMP1	Q96RY5	p.Asn265Ser	rs1163635279	missense variant	-	NC_000016.10:g.1641154A>G	TOPMed
CRAMP1	Q96RY5	p.Thr267Ala	rs188107020	missense variant	-	NC_000016.10:g.1641159A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn270Ser	rs374271727	missense variant	-	NC_000016.10:g.1641169A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln274His	rs759782717	missense variant	-	NC_000016.10:g.1641182G>C	ExAC
CRAMP1	Q96RY5	p.Gln274Ter	rs1304756435	stop gained	-	NC_000016.10:g.1641180C>T	gnomAD
CRAMP1	Q96RY5	p.Val275Ile	rs765411405	missense variant	-	NC_000016.10:g.1641183G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala277Val	rs1266217656	missense variant	-	NC_000016.10:g.1652498C>T	gnomAD
CRAMP1	Q96RY5	p.Arg281His	rs1199539300	missense variant	-	NC_000016.10:g.1652510G>A	gnomAD
CRAMP1	Q96RY5	p.Tyr282Ter	rs768884081	stop gained	-	NC_000016.10:g.1652514C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg285Leu	rs1160174156	missense variant	-	NC_000016.10:g.1652522G>T	gnomAD
CRAMP1	Q96RY5	p.Asn286Lys	rs1420615415	missense variant	-	NC_000016.10:g.1652526C>A	gnomAD
CRAMP1	Q96RY5	p.Arg288Gln	rs1407125732	missense variant	-	NC_000016.10:g.1652531G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala291Val	rs761679145	missense variant	-	NC_000016.10:g.1652540C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro292Ser	rs1323932458	missense variant	-	NC_000016.10:g.1652542C>T	TOPMed
CRAMP1	Q96RY5	p.Met293Val	rs1382260179	missense variant	-	NC_000016.10:g.1652545A>G	TOPMed
CRAMP1	Q96RY5	p.Leu297Val	rs1157490074	missense variant	-	NC_000016.10:g.1652557C>G	TOPMed
CRAMP1	Q96RY5	p.Cys301Trp	rs772771667	missense variant	-	NC_000016.10:g.1652571C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp302Asn	rs1209863020	missense variant	-	NC_000016.10:g.1652572G>A	gnomAD
CRAMP1	Q96RY5	p.Pro303Ser	rs1272218272	missense variant	-	NC_000016.10:g.1652575C>T	gnomAD
CRAMP1	Q96RY5	p.Gly305Val	rs1322659388	missense variant	-	NC_000016.10:g.1653033G>T	gnomAD
CRAMP1	Q96RY5	p.Glu309Asp	rs536108473	missense variant	-	NC_000016.10:g.1653046A>C	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp311Asn	rs1483438987	missense variant	-	NC_000016.10:g.1653050G>A	gnomAD
CRAMP1	Q96RY5	p.Val315Ala	rs756656583	missense variant	-	NC_000016.10:g.1653063T>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg316Pro	rs201507795	missense variant	-	NC_000016.10:g.1653066G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile323Val	rs1480430024	missense variant	-	NC_000016.10:g.1653086A>G	gnomAD
CRAMP1	Q96RY5	p.Pro327Leu	rs1346153748	missense variant	-	NC_000016.10:g.1653099C>T	gnomAD
CRAMP1	Q96RY5	p.Arg328Gln	rs1157656622	missense variant	-	NC_000016.10:g.1653102G>A	gnomAD
CRAMP1	Q96RY5	p.Arg328Trp	rs748398208	missense variant	-	NC_000016.10:g.1653101C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala332Ser	rs777747793	missense variant	-	NC_000016.10:g.1653113G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala332Val	rs1298207578	missense variant	-	NC_000016.10:g.1653114C>T	gnomAD
CRAMP1	Q96RY5	p.Ala332Gly	rs1298207578	missense variant	-	NC_000016.10:g.1653114C>G	gnomAD
CRAMP1	Q96RY5	p.Ala332Thr	rs777747793	missense variant	-	NC_000016.10:g.1653113G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Trp333Ter	rs1385052695	stop gained	-	NC_000016.10:g.1653118G>A	gnomAD
CRAMP1	Q96RY5	p.Arg335Cys	rs1312581911	missense variant	-	NC_000016.10:g.1653122C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg335His	rs746775641	missense variant	-	NC_000016.10:g.1653123G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val336Met	rs1184450872	missense variant	-	NC_000016.10:g.1653125G>A	TOPMed
CRAMP1	Q96RY5	p.Ser338Thr	rs576149115	missense variant	-	NC_000016.10:g.1653132G>C	1000Genomes,gnomAD
CRAMP1	Q96RY5	p.Leu339Val	rs545225765	missense variant	-	NC_000016.10:g.1653134C>G	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln341Leu	rs776622964	missense variant	-	NC_000016.10:g.1653141A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg344Cys	rs1286915552	missense variant	-	NC_000016.10:g.1653149C>T	gnomAD
CRAMP1	Q96RY5	p.Met347Leu	rs1372513822	missense variant	-	NC_000016.10:g.1655220A>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile348Val	rs771343996	missense variant	-	NC_000016.10:g.1655223A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile348Met	rs371062747	missense variant	-	NC_000016.10:g.1655225C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val349Met	rs1310301281	missense variant	-	NC_000016.10:g.1655226G>A	gnomAD
CRAMP1	Q96RY5	p.His352Arg	rs1378628673	missense variant	-	NC_000016.10:g.1655236A>G	gnomAD
CRAMP1	Q96RY5	p.Arg353Ter	rs765813513	stop gained	-	NC_000016.10:g.1655238C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg353Gln	rs1315005647	missense variant	-	NC_000016.10:g.1655239G>A	gnomAD
CRAMP1	Q96RY5	p.Lys354Asn	rs764199141	missense variant	-	NC_000016.10:g.1655243G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys354Arg	rs763115931	missense variant	-	NC_000016.10:g.1655242A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys354Asn	rs764199141	missense variant	-	NC_000016.10:g.1655243G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val355Leu	rs891213533	missense variant	-	NC_000016.10:g.1655244G>C	TOPMed
CRAMP1	Q96RY5	p.Ser357Gly	rs1459397436	missense variant	-	NC_000016.10:g.1655250A>G	gnomAD
CRAMP1	Q96RY5	p.Leu358Val	rs757372138	missense variant	-	NC_000016.10:g.1655253C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile359Met	rs371683187	missense variant	-	NC_000016.10:g.1655258C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu360Lys	rs962654737	missense variant	-	NC_000016.10:g.1655259G>A	TOPMed
CRAMP1	Q96RY5	p.Lys363Met	rs1018288124	missense variant	-	NC_000016.10:g.1655269A>T	TOPMed
CRAMP1	Q96RY5	p.Trp366Cys	rs1199449414	missense variant	-	NC_000016.10:g.1655279G>C	TOPMed
CRAMP1	Q96RY5	p.Trp366Arg	rs1302232880	missense variant	-	NC_000016.10:g.1655277T>C	gnomAD
CRAMP1	Q96RY5	p.Ala367Thr	rs779955361	missense variant	-	NC_000016.10:g.1655280G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala367Val	rs748863527	missense variant	-	NC_000016.10:g.1655281C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.His369Arg	rs777096385	missense variant	-	NC_000016.10:g.1655287A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val371Leu	rs1357197622	missense variant	-	NC_000016.10:g.1655292G>C	gnomAD
CRAMP1	Q96RY5	p.Arg372Gly	rs1446172327	missense variant	-	NC_000016.10:g.1655295C>G	gnomAD
CRAMP1	Q96RY5	p.Arg372Gln	rs376268761	missense variant	-	NC_000016.10:g.1655296G>A	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg372Ter	rs1446172327	stop gained	-	NC_000016.10:g.1655295C>T	gnomAD
CRAMP1	Q96RY5	p.Arg374Trp	rs749843552	missense variant	-	NC_000016.10:g.1655877C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg374Gln	rs202240948	missense variant	-	NC_000016.10:g.1655878G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr376Ile	rs774537583	missense variant	-	NC_000016.10:g.1655884C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Glu378Lys	rs991733349	missense variant	-	NC_000016.10:g.1655889G>A	TOPMed
CRAMP1	Q96RY5	p.Glu379Asp	rs1191496741	missense variant	-	NC_000016.10:g.1655894G>C	gnomAD
CRAMP1	Q96RY5	p.Arg380Gln	rs200244880	missense variant	-	NC_000016.10:g.1655896G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg380Trp	rs374369637	missense variant	-	NC_000016.10:g.1655895C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu382Arg	rs766187790	missense variant	-	NC_000016.10:g.1655902T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln383Arg	rs1362591651	missense variant	-	NC_000016.10:g.1655905A>G	gnomAD
CRAMP1	Q96RY5	p.Gln383Ter	rs1270457092	stop gained	-	NC_000016.10:g.1655904C>T	gnomAD
CRAMP1	Q96RY5	p.Asp384Tyr	rs753595082	missense variant	-	NC_000016.10:g.1655907G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser385Leu	rs942331561	missense variant	-	NC_000016.10:g.1655911C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Cys386Arg	rs1439066440	missense variant	-	NC_000016.10:g.1655913T>C	gnomAD
CRAMP1	Q96RY5	p.Ser387Phe	rs1252295610	missense variant	-	NC_000016.10:g.1655917C>T	TOPMed
CRAMP1	Q96RY5	p.Ala388Val	rs368481277	missense variant	-	NC_000016.10:g.1655920C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala388Thr	rs1013059877	missense variant	-	NC_000016.10:g.1655919G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro389Leu	rs757848793	missense variant	-	NC_000016.10:g.1655923C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Met390Leu	rs1213100086	missense variant	-	NC_000016.10:g.1655925A>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met390Ile	rs372570796	missense variant	-	NC_000016.10:g.1655927G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met390Thr	rs1323027784	missense variant	-	NC_000016.10:g.1655926T>C	TOPMed
CRAMP1	Q96RY5	p.Met390Ile	rs372570796	missense variant	-	NC_000016.10:g.1655927G>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln391Leu	rs780606038	missense variant	-	NC_000016.10:g.1655929A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val394Met	rs749647085	missense variant	-	NC_000016.10:g.1655937G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr395Ser	rs769342939	missense variant	-	NC_000016.10:g.1655940A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr395Ile	rs779285294	missense variant	-	NC_000016.10:g.1655941C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly401Asp	rs1031338762	missense variant	-	NC_000016.10:g.1655959G>A	TOPMed
CRAMP1	Q96RY5	p.Glu402Lys	rs771115810	missense variant	-	NC_000016.10:g.1655961G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu406Val	rs139383664	missense variant	-	NC_000016.10:g.1655973C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr407Ile	rs1332959238	missense variant	-	NC_000016.10:g.1655977C>T	gnomAD
CRAMP1	Q96RY5	p.Pro408Ser	rs1335926020	missense variant	-	NC_000016.10:g.1655979C>T	gnomAD
CRAMP1	Q96RY5	p.Pro408Leu	rs186357261	missense variant	-	NC_000016.10:g.1655980C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro410Leu	rs1233878814	missense variant	-	NC_000016.10:g.1655986C>T	gnomAD
CRAMP1	Q96RY5	p.Pro410Ser	rs1357815342	missense variant	-	NC_000016.10:g.1655985C>T	gnomAD
CRAMP1	Q96RY5	p.Pro410Gln	rs1233878814	missense variant	-	NC_000016.10:g.1655986C>A	gnomAD
CRAMP1	Q96RY5	p.Gly411Asp	rs867773792	missense variant	-	NC_000016.10:g.1655989G>A	gnomAD
CRAMP1	Q96RY5	p.Val412Met	rs751080703	missense variant	-	NC_000016.10:g.1655991G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg414Cys	rs757019044	missense variant	-	NC_000016.10:g.1655997C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val415Met	rs1366834613	missense variant	-	NC_000016.10:g.1656000G>A	gnomAD
CRAMP1	Q96RY5	p.His417Gln	rs1473802660	missense variant	-	NC_000016.10:g.1656008C>A	gnomAD
CRAMP1	Q96RY5	p.Ser418Cys	rs754322290	missense variant	-	NC_000016.10:g.1656010C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys419Glu	rs1423456402	missense variant	-	NC_000016.10:g.1656012A>G	gnomAD
CRAMP1	Q96RY5	p.Phe421Val	rs1464407919	missense variant	-	NC_000016.10:g.1656018T>G	gnomAD
CRAMP1	Q96RY5	p.Phe421Ser	rs973250261	missense variant	-	NC_000016.10:g.1656019T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr423Arg	rs779282014	missense variant	-	NC_000016.10:g.1656025C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val424Leu	rs371073011	missense variant	-	NC_000016.10:g.1656027G>T	ESP
CRAMP1	Q96RY5	p.Gln427Ter	rs1207627052	stop gained	-	NC_000016.10:g.1656036C>T	TOPMed
CRAMP1	Q96RY5	p.Glu428Gly	rs982865190	missense variant	-	NC_000016.10:g.1656040A>G	TOPMed
CRAMP1	Q96RY5	p.Gly430Ser	rs772594351	missense variant	-	NC_000016.10:g.1656045G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg431Trp	rs747072572	missense variant	-	NC_000016.10:g.1656048C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser435Gly	rs1220374514	missense variant	-	NC_000016.10:g.1656060A>G	gnomAD
CRAMP1	Q96RY5	p.Ala436Val	rs960159131	missense variant	-	NC_000016.10:g.1656064C>T	gnomAD
CRAMP1	Q96RY5	p.Ala436Asp	rs960159131	missense variant	-	NC_000016.10:g.1656064C>A	gnomAD
CRAMP1	Q96RY5	p.Ala439Ser	rs759692870	missense variant	-	NC_000016.10:g.1656072G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala439Thr	rs759692870	missense variant	-	NC_000016.10:g.1656072G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val441Met	rs571857474	missense variant	-	NC_000016.10:g.1656078G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val441Leu	rs571857474	missense variant	-	NC_000016.10:g.1656078G>C	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro444Ser	rs534427089	missense variant	-	NC_000016.10:g.1656087C>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala445Gly	rs773972940	missense variant	-	NC_000016.10:g.1656091C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala445Thr	rs1173423082	missense variant	-	NC_000016.10:g.1656090G>A	gnomAD
CRAMP1	Q96RY5	p.Gln446His	rs1465814507	missense variant	-	NC_000016.10:g.1656095G>T	gnomAD
CRAMP1	Q96RY5	p.Ile447Met	rs1403816425	missense variant	-	NC_000016.10:g.1656098C>G	gnomAD
CRAMP1	Q96RY5	p.Ile447Val	rs750113429	missense variant	-	NC_000016.10:g.1656096A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly449Asp	rs1434812798	missense variant	-	NC_000016.10:g.1656103G>A	gnomAD
CRAMP1	Q96RY5	p.Gly449Val	rs1434812798	missense variant	-	NC_000016.10:g.1656103G>T	gnomAD
CRAMP1	Q96RY5	p.Ile450Met	rs755744988	missense variant	-	NC_000016.10:g.1656107C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln451Leu	rs1337766937	missense variant	-	NC_000016.10:g.1656109A>T	gnomAD
CRAMP1	Q96RY5	p.Gln451Arg	rs1337766937	missense variant	-	NC_000016.10:g.1656109A>G	gnomAD
CRAMP1	Q96RY5	p.Gly455Ala	rs1376866964	missense variant	-	NC_000016.10:g.1656121G>C	TOPMed
CRAMP1	Q96RY5	p.Thr456Met	rs553081131	missense variant	-	NC_000016.10:g.1656124C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg458Trp	rs747446342	missense variant	-	NC_000016.10:g.1656129C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg458Gln	rs1350400126	missense variant	-	NC_000016.10:g.1656130G>A	gnomAD
CRAMP1	Q96RY5	p.Gly459Asp	rs1211869672	missense variant	-	NC_000016.10:g.1656133G>A	gnomAD
CRAMP1	Q96RY5	p.Gln460His	rs1487337214	missense variant	-	NC_000016.10:g.1656137G>T	gnomAD
CRAMP1	Q96RY5	p.Val461Met	rs1043227466	missense variant	-	NC_000016.10:g.1656138G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro464Leu	rs757338395	missense variant	-	NC_000016.10:g.1656148C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg465Gln	rs746105462	missense variant	-	NC_000016.10:g.1656151G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg465Trp	rs767330217	missense variant	-	NC_000016.10:g.1656150C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly467Arg	rs375137924	missense variant	-	NC_000016.10:g.1656156G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly467Arg	rs375137924	missense variant	-	NC_000016.10:g.1656156G>C	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala468Gly	rs749096686	missense variant	-	NC_000016.10:g.1656160C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala468Thr	rs1420929399	missense variant	-	NC_000016.10:g.1656159G>A	gnomAD
CRAMP1	Q96RY5	p.Glu469Gly	rs1352921873	missense variant	-	NC_000016.10:g.1656163A>G	gnomAD
CRAMP1	Q96RY5	p.Gly470Asp	rs1389838559	missense variant	-	NC_000016.10:g.1656166G>A	gnomAD
CRAMP1	Q96RY5	p.Gly472Val	rs370408080	missense variant	-	NC_000016.10:g.1656172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg475Gln	rs1261839673	missense variant	-	NC_000016.10:g.1656181G>A	gnomAD
CRAMP1	Q96RY5	p.Arg475Trp	rs772810276	missense variant	-	NC_000016.10:g.1656180C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro476Leu	rs368960482	missense variant	-	NC_000016.10:g.1656184C>T	ESP
CRAMP1	Q96RY5	p.Pro476Thr	rs374812511	missense variant	-	NC_000016.10:g.1656183C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro476Ser	rs374812511	missense variant	-	NC_000016.10:g.1656183C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro477Leu	rs1436409347	missense variant	-	NC_000016.10:g.1656187C>T	TOPMed
CRAMP1	Q96RY5	p.Pro477Arg	rs1436409347	missense variant	-	NC_000016.10:g.1656187C>G	TOPMed
CRAMP1	Q96RY5	p.Pro477Ala	rs557671601	missense variant	-	NC_000016.10:g.1656186C>G	1000Genomes
CRAMP1	Q96RY5	p.Ala479Val	rs372160619	missense variant	-	NC_000016.10:g.1656193C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala480Gly	rs1159273751	missense variant	-	NC_000016.10:g.1656196C>G	gnomAD
CRAMP1	Q96RY5	p.Ala480Ser	rs899689704	missense variant	-	NC_000016.10:g.1656195G>T	gnomAD
CRAMP1	Q96RY5	p.Ala482Thr	rs150033460	missense variant	-	NC_000016.10:g.1656201G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala482Gly	rs1394971470	missense variant	-	NC_000016.10:g.1656202C>G	gnomAD
CRAMP1	Q96RY5	p.Leu483Phe	rs757719069	missense variant	-	NC_000016.10:g.1656206G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln484Pro	rs781286981	missense variant	-	NC_000016.10:g.1656208A>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln484His	rs745937828	missense variant	-	NC_000016.10:g.1656209G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser486Phe	rs756347466	missense variant	-	NC_000016.10:g.1656214C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser486Cys	rs756347466	missense variant	-	NC_000016.10:g.1656214C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly487Val	rs1243312947	missense variant	-	NC_000016.10:g.1656217G>T	gnomAD
CRAMP1	Q96RY5	p.Gly487Arg	rs1035368808	missense variant	-	NC_000016.10:g.1656216G>A	TOPMed
CRAMP1	Q96RY5	p.Pro491Thr	rs749402671	missense variant	-	NC_000016.10:g.1656228C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu492Lys	rs748130394	missense variant	-	NC_000016.10:g.1656231G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala494Thr	rs772650332	missense variant	-	NC_000016.10:g.1656237G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro495Leu	rs373720836	missense variant	-	NC_000016.10:g.1656241C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro495His	rs373720836	missense variant	-	NC_000016.10:g.1656241C>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly496Ala	rs145412892	missense variant	-	NC_000016.10:g.1656244G>C	1000Genomes,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly496Arg	rs759058105	missense variant	-	NC_000016.10:g.1656243G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Glu497Gln	rs1168347935	missense variant	-	NC_000016.10:g.1656246G>C	gnomAD
CRAMP1	Q96RY5	p.Glu497Gly	rs1417521762	missense variant	-	NC_000016.10:g.1656247A>G	gnomAD
CRAMP1	Q96RY5	p.Gly498Arg	rs1402191175	missense variant	-	NC_000016.10:g.1656249G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly498Val	rs1430152773	missense variant	-	NC_000016.10:g.1656250G>T	TOPMed
CRAMP1	Q96RY5	p.Ala499Val	rs1298937487	missense variant	-	NC_000016.10:g.1656253C>T	gnomAD
CRAMP1	Q96RY5	p.Ala499Pro	rs1444685898	missense variant	-	NC_000016.10:g.1656252G>C	gnomAD
CRAMP1	Q96RY5	p.Ala500Thr	rs751887008	missense variant	-	NC_000016.10:g.1656255G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala500Ser	rs751887008	missense variant	-	NC_000016.10:g.1656255G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala500Val	rs1394319006	missense variant	-	NC_000016.10:g.1656256C>T	gnomAD
CRAMP1	Q96RY5	p.Ser502Thr	rs1295658944	missense variant	-	NC_000016.10:g.1656262G>C	gnomAD
CRAMP1	Q96RY5	p.Ser505Gly	rs372185664	missense variant	-	NC_000016.10:g.1656270A>G	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro506Leu	rs200270407	missense variant	-	NC_000016.10:g.1656274C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala508Thr	rs754112928	missense variant	-	NC_000016.10:g.1656279G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala508Asp	rs754637328	missense variant	-	NC_000016.10:g.1656280C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro509Leu	rs1471862230	missense variant	-	NC_000016.10:g.1656283C>T	TOPMed
CRAMP1	Q96RY5	p.Arg511Ser	rs1257590092	missense variant	-	NC_000016.10:g.1656290G>T	gnomAD
CRAMP1	Q96RY5	p.Arg511Gly	rs778893305	missense variant	-	NC_000016.10:g.1656288A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro513Leu	rs903117300	missense variant	-	NC_000016.10:g.1656295C>T	gnomAD
CRAMP1	Q96RY5	p.Pro513Ser	rs562736193	missense variant	-	NC_000016.10:g.1656294C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro514Ser	rs1439886053	missense variant	-	NC_000016.10:g.1656297C>T	TOPMed
CRAMP1	Q96RY5	p.Arg515Ser	rs777765671	missense variant	-	NC_000016.10:g.1656302G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.His516Gln	rs746858691	missense variant	-	NC_000016.10:g.1656305C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln517His	rs770493494	missense variant	-	NC_000016.10:g.1656308G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln517Arg	rs1358727822	missense variant	-	NC_000016.10:g.1656307A>G	gnomAD
CRAMP1	Q96RY5	p.Thr519Ala	rs775959380	missense variant	-	NC_000016.10:g.1656312A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly520Glu	rs1356140035	missense variant	-	NC_000016.10:g.1656316G>A	gnomAD
CRAMP1	Q96RY5	p.Pro521Ser	rs759224794	missense variant	-	NC_000016.10:g.1656318C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr526Ile	rs1364566361	missense variant	-	NC_000016.10:g.1656334C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr526Ala	rs769410929	missense variant	-	NC_000016.10:g.1656333A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro527Ser	rs774753825	missense variant	-	NC_000016.10:g.1656336C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala528Val	rs1236741727	missense variant	-	NC_000016.10:g.1656340C>T	gnomAD
CRAMP1	Q96RY5	p.Gly530Ser	rs767706760	missense variant	-	NC_000016.10:g.1656345G>A	ExAC
CRAMP1	Q96RY5	p.Arg531Gly	rs750952543	missense variant	-	NC_000016.10:g.1656348A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg531Lys	rs761038864	missense variant	-	NC_000016.10:g.1656349G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp532Tyr	rs1056706414	missense variant	-	NC_000016.10:g.1656351G>T	gnomAD
CRAMP1	Q96RY5	p.Asp532His	rs1056706414	missense variant	-	NC_000016.10:g.1656351G>C	gnomAD
CRAMP1	Q96RY5	p.Asp532Gly	rs1214388794	missense variant	-	NC_000016.10:g.1656352A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg536Trp	rs183769316	missense variant	-	NC_000016.10:g.1656363C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg536Gln	rs371446549	missense variant	-	NC_000016.10:g.1656364G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg536Pro	rs371446549	missense variant	-	NC_000016.10:g.1656364G>C	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu537Lys	rs552084892	missense variant	-	NC_000016.10:g.1656366G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro538Leu	rs374738088	missense variant	-	NC_000016.10:g.1656370C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly539Val	rs370114636	missense variant	-	NC_000016.10:g.1656373G>T	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly539Ala	rs370114636	missense variant	-	NC_000016.10:g.1656373G>C	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala540Ser	rs373328340	missense variant	-	NC_000016.10:g.1656375G>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala540Thr	rs373328340	missense variant	-	NC_000016.10:g.1656375G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro542Leu	rs199732432	missense variant	-	NC_000016.10:g.1656382C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro542Ala	rs1347404329	missense variant	-	NC_000016.10:g.1656381C>G	gnomAD
CRAMP1	Q96RY5	p.Cys543Ser	rs1365888077	missense variant	-	NC_000016.10:g.1656384T>A	gnomAD
CRAMP1	Q96RY5	p.Ala544Val	rs995022425	missense variant	-	NC_000016.10:g.1656388C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Cys545Gly	rs1206981167	missense variant	-	NC_000016.10:g.1656390T>G	TOPMed
CRAMP1	Q96RY5	p.Leu548Val	rs752981865	missense variant	-	NC_000016.10:g.1656399C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu548Phe	rs752981865	missense variant	-	NC_000016.10:g.1656399C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro549Ser	rs772508584	missense variant	-	NC_000016.10:g.1656402C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro549Arg	rs773410575	missense variant	-	NC_000016.10:g.1656403C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro549Leu	rs773410575	missense variant	-	NC_000016.10:g.1656403C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp550His	rs377597921	missense variant	-	NC_000016.10:g.1656405G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp553Asn	rs1244816771	missense variant	-	NC_000016.10:g.1656414G>A	gnomAD
CRAMP1	Q96RY5	p.Asp553Gly	rs1469612291	missense variant	-	NC_000016.10:g.1656415A>G	gnomAD
CRAMP1	Q96RY5	p.Glu554Lys	rs776911598	missense variant	-	NC_000016.10:g.1656417G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu555Phe	rs950653296	missense variant	-	NC_000016.10:g.1656420C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu555Pro	rs1399209231	missense variant	-	NC_000016.10:g.1656421T>C	gnomAD
CRAMP1	Q96RY5	p.Ser556Leu	rs537483186	missense variant	-	NC_000016.10:g.1656424C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu558Pro	rs758649118	missense variant	-	NC_000016.10:g.1656430T>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro560Ser	rs374501457	missense variant	-	NC_000016.10:g.1656435C>T	ESP,gnomAD
CRAMP1	Q96RY5	p.Pro560Ala	rs374501457	missense variant	-	NC_000016.10:g.1656435C>G	ESP,gnomAD
CRAMP1	Q96RY5	p.Leu561Phe	rs751286575	missense variant	-	NC_000016.10:g.1656440G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu561Met	rs1375619428	missense variant	-	NC_000016.10:g.1656438T>A	gnomAD
CRAMP1	Q96RY5	p.Pro562Ala	rs757274453	missense variant	-	NC_000016.10:g.1656441C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro562Ser	rs757274453	missense variant	-	NC_000016.10:g.1656441C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg563His	rs755634011	missense variant	-	NC_000016.10:g.1656445G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg563Cys	rs577488354	missense variant	-	NC_000016.10:g.1656444C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg563Gly	rs577488354	missense variant	-	NC_000016.10:g.1656444C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Tyr564Cys	rs1336683765	missense variant	-	NC_000016.10:g.1656448A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys566Asn	rs779490530	missense variant	-	NC_000016.10:g.1656455G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Cys568Ser	rs1237328124	missense variant	-	NC_000016.10:g.1656460G>C	gnomAD
CRAMP1	Q96RY5	p.Asp570Asn	rs1248685034	missense variant	-	NC_000016.10:g.1656465G>A	TOPMed
CRAMP1	Q96RY5	p.Leu571Val	rs1179886531	missense variant	-	NC_000016.10:g.1656468C>G	gnomAD
CRAMP1	Q96RY5	p.Ile572Val	rs1216422800	missense variant	-	NC_000016.10:g.1656471A>G	TOPMed
CRAMP1	Q96RY5	p.Pro574Arg	rs1470524868	missense variant	-	NC_000016.10:g.1656478C>G	gnomAD
CRAMP1	Q96RY5	p.Pro574Thr	rs1233227165	missense variant	-	NC_000016.10:g.1656477C>A	gnomAD
CRAMP1	Q96RY5	p.Glu575Lys	rs1416243813	missense variant	-	NC_000016.10:g.1656480G>A	gnomAD
CRAMP1	Q96RY5	p.Glu575Gln	rs1416243813	missense variant	-	NC_000016.10:g.1656480G>C	gnomAD
CRAMP1	Q96RY5	p.Glu575Val	rs553638328	missense variant	-	NC_000016.10:g.1656481A>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln576Arg	rs978777791	missense variant	-	NC_000016.10:g.1656484A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln576His	rs773676967	missense variant	-	NC_000016.10:g.1656485G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Cys577Arg	rs1272278815	missense variant	-	NC_000016.10:g.1656486T>C	gnomAD
CRAMP1	Q96RY5	p.Arg578Ser	rs1330418090	missense variant	-	NC_000016.10:g.1656489C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg578His	rs747324517	missense variant	-	NC_000016.10:g.1656490G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg578Cys	rs1330418090	missense variant	-	NC_000016.10:g.1656489C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Cys579Ser	rs1446567699	missense variant	-	NC_000016.10:g.1656492T>A	gnomAD
CRAMP1	Q96RY5	p.Cys579Tyr	rs573825535	missense variant	-	NC_000016.10:g.1656493G>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala580Val	rs542745050	missense variant	-	NC_000016.10:g.1656496C>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp581Asn	rs1257234848	missense variant	-	NC_000016.10:g.1656498G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr582Ala	rs760066089	missense variant	-	NC_000016.10:g.1656501A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg583Gln	rs765434904	missense variant	-	NC_000016.10:g.1656505G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg583Trp	rs1194315710	missense variant	-	NC_000016.10:g.1656504C>T	gnomAD
CRAMP1	Q96RY5	p.Gly585Arg	rs934929492	missense variant	-	NC_000016.10:g.1656510G>A	TOPMed
CRAMP1	Q96RY5	p.Ser586Arg	rs563031777	missense variant	-	NC_000016.10:g.1656515C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu587Lys	rs763282564	missense variant	-	NC_000016.10:g.1656516G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln588His	rs948415333	missense variant	-	NC_000016.10:g.1656521G>C	gnomAD
CRAMP1	Q96RY5	p.Pro590Ser	rs1189228382	missense variant	-	NC_000016.10:g.1656525C>T	gnomAD
CRAMP1	Q96RY5	p.Pro590His	rs751435469	missense variant	-	NC_000016.10:g.1656526C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro590Leu	rs751435469	missense variant	-	NC_000016.10:g.1656526C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu591Val	rs767241110	missense variant	-	NC_000016.10:g.1656528C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly592Asp	rs1396703874	missense variant	-	NC_000016.10:g.1656532G>A	gnomAD
CRAMP1	Q96RY5	p.Gly592Ser	rs1188423406	missense variant	-	NC_000016.10:g.1656531G>A	TOPMed
CRAMP1	Q96RY5	p.Gly593Arg	rs756006420	missense variant	-	NC_000016.10:g.1656534G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala594Val	rs779580535	missense variant	-	NC_000016.10:g.1656538C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala594Pro	rs1356783080	missense variant	-	NC_000016.10:g.1656537G>C	gnomAD
CRAMP1	Q96RY5	p.Ala595Thr	rs1324497582	missense variant	-	NC_000016.10:g.1656540G>A	gnomAD
CRAMP1	Q96RY5	p.Ser596Phe	rs545390375	missense variant	-	NC_000016.10:g.1656544C>T	1000Genomes
CRAMP1	Q96RY5	p.Pro597Ser	rs1341092217	missense variant	-	NC_000016.10:g.1656546C>T	TOPMed
CRAMP1	Q96RY5	p.Pro597Leu	rs1272158136	missense variant	-	NC_000016.10:g.1656547C>T	gnomAD
CRAMP1	Q96RY5	p.Val599Leu	rs1278331183	missense variant	-	NC_000016.10:g.1656552G>T	gnomAD
CRAMP1	Q96RY5	p.Val599Ala	rs778428297	missense variant	-	NC_000016.10:g.1656553T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro602Ser	rs368181087	missense variant	-	NC_000016.10:g.1656561C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val603Ile	rs777091430	missense variant	-	NC_000016.10:g.1656564G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val603Leu	rs777091430	missense variant	-	NC_000016.10:g.1656564G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser604Asn	rs1171341136	missense variant	-	NC_000016.10:g.1656568G>A	gnomAD
CRAMP1	Q96RY5	p.Ser604Gly	rs374772176	missense variant	-	NC_000016.10:g.1656567A>G	ESP,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu606Lys	rs145013663	missense variant	-	NC_000016.10:g.1656573G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala608Val	rs762935745	missense variant	-	NC_000016.10:g.1656580C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp609His	rs774449066	missense variant	-	NC_000016.10:g.1656582G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu610Phe	rs965032988	missense variant	-	NC_000016.10:g.1656585C>T	gnomAD
CRAMP1	Q96RY5	p.Ala611Val	rs762046057	missense variant	-	NC_000016.10:g.1656589C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro612Ala	rs527950415	missense variant	-	NC_000016.10:g.1656591C>G	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro612Ser	rs527950415	missense variant	-	NC_000016.10:g.1656591C>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr613Ala	rs371731624	missense variant	-	NC_000016.10:g.1656594A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly614Asp	rs548075473	missense variant	-	NC_000016.10:g.1656598G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro617Leu	rs753456827	missense variant	-	NC_000016.10:g.1656607C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro617Arg	rs753456827	missense variant	-	NC_000016.10:g.1656607C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro617Ala	rs1012089202	missense variant	-	NC_000016.10:g.1656606C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly620Asp	rs1191391969	missense variant	-	NC_000016.10:g.1656616G>A	gnomAD
CRAMP1	Q96RY5	p.Gly620Ser	rs758033308	missense variant	-	NC_000016.10:g.1656615G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro621Ser	rs781721413	missense variant	-	NC_000016.10:g.1656618C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro621Ala	rs781721413	missense variant	-	NC_000016.10:g.1656618C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly622Arg	rs1157584038	missense variant	-	NC_000016.10:g.1656621G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu623Phe	rs992663171	missense variant	-	NC_000016.10:g.1656624C>T	gnomAD
CRAMP1	Q96RY5	p.Leu624Met	rs1289352640	missense variant	-	NC_000016.10:g.1656627C>A	gnomAD
CRAMP1	Q96RY5	p.Cys628Phe	rs1447871763	missense variant	-	NC_000016.10:g.1656640G>T	gnomAD
CRAMP1	Q96RY5	p.Cys628Tyr	rs1447871763	missense variant	-	NC_000016.10:g.1656640G>A	gnomAD
CRAMP1	Q96RY5	p.Thr629Pro	rs780708550	missense variant	-	NC_000016.10:g.1656642A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr629Ser	rs747147815	missense variant	-	NC_000016.10:g.1656643C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp631Val	rs1441911598	missense variant	-	NC_000016.10:g.1656649A>T	gnomAD
CRAMP1	Q96RY5	p.Asp631His	rs1373538969	missense variant	-	NC_000016.10:g.1656648G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala633Gly	rs191084422	missense variant	-	NC_000016.10:g.1656655C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala633Val	rs191084422	missense variant	-	NC_000016.10:g.1656655C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp634Asn	rs1261788272	missense variant	-	NC_000016.10:g.1656657G>A	gnomAD
CRAMP1	Q96RY5	p.Asp634His	rs1261788272	missense variant	-	NC_000016.10:g.1656657G>C	gnomAD
CRAMP1	Q96RY5	p.Ala637Glu	rs920280760	missense variant	-	NC_000016.10:g.1656667C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala637Val	rs920280760	missense variant	-	NC_000016.10:g.1656667C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu638Lys	rs766097615	missense variant	-	NC_000016.10:g.1656669G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly644Arg	rs1420300734	missense variant	-	NC_000016.10:g.1656687G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro646Arg	rs764688261	missense variant	-	NC_000016.10:g.1656694C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro646His	rs764688261	missense variant	-	NC_000016.10:g.1656694C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala647Thr	rs758179352	missense variant	-	NC_000016.10:g.1656696G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala647Val	rs777559860	missense variant	-	NC_000016.10:g.1656697C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly648Arg	rs1297777209	missense variant	-	NC_000016.10:g.1656699G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro649Leu	rs756559071	missense variant	-	NC_000016.10:g.1656703C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro650Thr	rs1264484695	missense variant	-	NC_000016.10:g.1656705C>A	TOPMed
CRAMP1	Q96RY5	p.Pro650Leu	rs780415279	missense variant	-	NC_000016.10:g.1656706C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro651Leu	rs537572177	missense variant	-	NC_000016.10:g.1656709C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser652Cys	rs1335880575	missense variant	-	NC_000016.10:g.1656712C>G	gnomAD
CRAMP1	Q96RY5	p.Ser652Phe	rs1335880575	missense variant	-	NC_000016.10:g.1656712C>T	gnomAD
CRAMP1	Q96RY5	p.Gln653His	rs1320586522	missense variant	-	NC_000016.10:g.1656716G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly654Glu	rs1481337275	missense variant	-	NC_000016.10:g.1656718G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly654Arg	rs1249217826	missense variant	-	NC_000016.10:g.1656717G>A	gnomAD
CRAMP1	Q96RY5	p.Gly654Ala	rs1481337275	missense variant	-	NC_000016.10:g.1656718G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala657Gly	rs1177339443	missense variant	-	NC_000016.10:g.1656727C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala657Val	rs1177339443	missense variant	-	NC_000016.10:g.1656727C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala657Asp	rs1177339443	missense variant	-	NC_000016.10:g.1656727C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala658Thr	rs570912665	missense variant	-	NC_000016.10:g.1656729G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg659Ser	rs1170017010	missense variant	-	NC_000016.10:g.1656734G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg659Gly	rs1418341007	missense variant	-	NC_000016.10:g.1656732A>G	gnomAD
CRAMP1	Q96RY5	p.Arg659Lys	rs1409117106	missense variant	-	NC_000016.10:g.1656733G>A	gnomAD
CRAMP1	Q96RY5	p.Pro660Leu	rs1463707076	missense variant	-	NC_000016.10:g.1656736C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro660Ala	rs1352918863	missense variant	-	NC_000016.10:g.1656735C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro660Ser	rs1352918863	missense variant	-	NC_000016.10:g.1656735C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro660His	rs1463707076	missense variant	-	NC_000016.10:g.1656736C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro661Leu	rs533832759	missense variant	-	NC_000016.10:g.1656739C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro661Arg	rs533832759	missense variant	-	NC_000016.10:g.1656739C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu663Gly	rs1193821403	missense variant	-	NC_000016.10:g.1656745A>G	TOPMed
CRAMP1	Q96RY5	p.Val664Ile	rs1044934815	missense variant	-	NC_000016.10:g.1656747G>A	TOPMed
CRAMP1	Q96RY5	p.Pro665Ser	rs368418963	missense variant	-	NC_000016.10:g.1656750C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala666Asp	rs759207917	missense variant	-	NC_000016.10:g.1656754C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala666Thr	rs776666101	missense variant	-	NC_000016.10:g.1656753G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser667Gly	rs1262984827	missense variant	-	NC_000016.10:g.1656756A>G	TOPMed
CRAMP1	Q96RY5	p.Ser667Arg	rs1262984827	missense variant	-	NC_000016.10:g.1656756A>C	TOPMed
CRAMP1	Q96RY5	p.Arg668Leu	rs146776711	missense variant	-	NC_000016.10:g.1656760G>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg668Gln	rs146776711	missense variant	-	NC_000016.10:g.1656760G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg668Trp	rs774942675	missense variant	-	NC_000016.10:g.1656759C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu669Pro	rs1304457232	missense variant	-	NC_000016.10:g.1656763T>C	TOPMed
CRAMP1	Q96RY5	p.Leu669Met	rs1484378205	missense variant	-	NC_000016.10:g.1656762C>A	gnomAD
CRAMP1	Q96RY5	p.Ala670Gly	rs1212978869	missense variant	-	NC_000016.10:g.1656766C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu673Phe	rs1257519449	missense variant	-	NC_000016.10:g.1656774C>T	gnomAD
CRAMP1	Q96RY5	p.Leu673Pro	rs1363150861	missense variant	-	NC_000016.10:g.1656775T>C	TOPMed
CRAMP1	Q96RY5	p.Arg674Leu	rs757340231	missense variant	-	NC_000016.10:g.1656778G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg674His	rs757340231	missense variant	-	NC_000016.10:g.1656778G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg674Cys	rs969980024	missense variant	-	NC_000016.10:g.1656777C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu675Lys	rs1421381135	missense variant	-	NC_000016.10:g.1656780G>A	gnomAD
CRAMP1	Q96RY5	p.Glu676Gly	rs763900352	missense variant	-	NC_000016.10:g.1656784A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu676Asp	rs1394182390	missense variant	-	NC_000016.10:g.1656785G>C	TOPMed
CRAMP1	Q96RY5	p.Glu676Lys	rs1430556494	missense variant	-	NC_000016.10:g.1656783G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly677Asp	rs1394579767	missense variant	-	NC_000016.10:g.1656787G>A	gnomAD
CRAMP1	Q96RY5	p.Trp678Cys	rs1432898476	missense variant	-	NC_000016.10:g.1656791G>C	gnomAD
CRAMP1	Q96RY5	p.Trp678Cys	rs1432898476	missense variant	-	NC_000016.10:g.1656791G>T	gnomAD
CRAMP1	Q96RY5	p.Leu680Val	rs1019589676	missense variant	-	NC_000016.10:g.1656795C>G	TOPMed
CRAMP1	Q96RY5	p.Glu684Lys	rs1376658973	missense variant	-	NC_000016.10:g.1656807G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met694Thr	rs1345130398	missense variant	-	NC_000016.10:g.1656838T>C	gnomAD
CRAMP1	Q96RY5	p.Leu701Met	rs1358375030	missense variant	-	NC_000016.10:g.1656858C>A	gnomAD
CRAMP1	Q96RY5	p.Gln702Lys	rs755238832	missense variant	-	NC_000016.10:g.1656861C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu704Asp	rs1280398652	missense variant	-	NC_000016.10:g.1656869G>T	gnomAD
CRAMP1	Q96RY5	p.Glu704Gln	rs1228325723	missense variant	-	NC_000016.10:g.1656867G>C	TOPMed
CRAMP1	Q96RY5	p.Gly709Arg	rs748577178	missense variant	-	NC_000016.10:g.1656882G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro710Ser	rs1243678608	missense variant	-	NC_000016.10:g.1656885C>T	gnomAD
CRAMP1	Q96RY5	p.Gly711Ser	rs545529729	missense variant	-	NC_000016.10:g.1656888G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg712Leu	rs903823727	missense variant	-	NC_000016.10:g.1656892G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg712Cys	rs565235725	missense variant	-	NC_000016.10:g.1656891C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg712His	rs903823727	missense variant	-	NC_000016.10:g.1656892G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg716Cys	rs771069939	missense variant	-	NC_000016.10:g.1656903C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg716Leu	rs372279645	missense variant	-	NC_000016.10:g.1656904G>T	gnomAD
CRAMP1	Q96RY5	p.Gly718Ser	rs745825658	missense variant	-	NC_000016.10:g.1656909G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu720Val	rs1436192641	missense variant	-	NC_000016.10:g.1656915C>G	gnomAD
CRAMP1	Q96RY5	p.Pro721Thr	rs1324822848	missense variant	-	NC_000016.10:g.1656918C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro721His	rs1335872676	missense variant	-	NC_000016.10:g.1656919C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro721Arg	rs1335872676	missense variant	-	NC_000016.10:g.1656919C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro721Ser	rs1324822848	missense variant	-	NC_000016.10:g.1656918C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr722Ile	rs1368403011	missense variant	-	NC_000016.10:g.1656922C>T	gnomAD
CRAMP1	Q96RY5	p.Ala723Thr	rs775345230	missense variant	-	NC_000016.10:g.1656924G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala723Ser	rs775345230	missense variant	-	NC_000016.10:g.1656924G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.His725Pro	rs1045299343	missense variant	-	NC_000016.10:g.1656931A>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.His725Asp	rs1272581900	missense variant	-	NC_000016.10:g.1656930C>G	TOPMed
CRAMP1	Q96RY5	p.His725Gln	rs903724382	missense variant	-	NC_000016.10:g.1656932C>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln727His	rs774178478	missense variant	-	NC_000016.10:g.1656938G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg728His	rs1250904876	missense variant	-	NC_000016.10:g.1656940G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu729Arg	rs541352163	missense variant	-	NC_000016.10:g.1656943T>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser731Asn	rs970311309	missense variant	-	NC_000016.10:g.1656949G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser731Thr	rs970311309	missense variant	-	NC_000016.10:g.1656949G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu733Phe	rs767068024	missense variant	-	NC_000016.10:g.1656954C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr739Ala	rs920515248	missense variant	-	NC_000016.10:g.1656972A>G	TOPMed
CRAMP1	Q96RY5	p.Glu740Lys	rs755504106	missense variant	-	NC_000016.10:g.1656975G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val741Ile	rs1164737281	missense variant	-	NC_000016.10:g.1656978G>A	gnomAD
CRAMP1	Q96RY5	p.Pro743Thr	rs1178985337	missense variant	-	NC_000016.10:g.1656984C>A	gnomAD
CRAMP1	Q96RY5	p.Lys744Thr	rs753035998	missense variant	-	NC_000016.10:g.1656988A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala746Thr	rs780091307	missense variant	-	NC_000016.10:g.1659886G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala746Asp	rs1431823838	missense variant	-	NC_000016.10:g.1659887C>A	TOPMed
CRAMP1	Q96RY5	p.Ala746Pro	rs780091307	missense variant	-	NC_000016.10:g.1659886G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu747Val	rs749251381	missense variant	-	NC_000016.10:g.1659889C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala749Gly	rs1372860898	missense variant	-	NC_000016.10:g.1659896C>G	gnomAD
CRAMP1	Q96RY5	p.Thr751Ile	rs768499069	missense variant	-	NC_000016.10:g.1659902C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser753Thr	rs1200595363	missense variant	-	NC_000016.10:g.1659907T>A	TOPMed
CRAMP1	Q96RY5	p.Thr754Ile	rs1021525675	missense variant	-	NC_000016.10:g.1659911C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr754Ala	rs1390287107	missense variant	-	NC_000016.10:g.1659910A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg758Ser	rs772777296	missense variant	-	NC_000016.10:g.1659924G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg758Gly	rs369231610	missense variant	-	NC_000016.10:g.1659922A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro759Thr	rs1261266997	missense variant	-	NC_000016.10:g.1659925C>A	TOPMed
CRAMP1	Q96RY5	p.Pro759Arg	rs1317423233	missense variant	-	NC_000016.10:g.1659926C>G	gnomAD
CRAMP1	Q96RY5	p.Ala760Thr	rs770447391	missense variant	-	NC_000016.10:g.1659928G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln761Lys	rs1300041980	missense variant	-	NC_000016.10:g.1659931C>A	gnomAD
CRAMP1	Q96RY5	p.Glu762Lys	rs200608756	missense variant	-	NC_000016.10:g.1659934G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu763Lys	rs763450496	missense variant	-	NC_000016.10:g.1659937G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser765Leu	rs199878911	missense variant	-	NC_000016.10:g.1659944C>T	1000Genomes,ESP,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr767Ser	rs764647937	missense variant	-	NC_000016.10:g.1659949A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr767Met	rs1261501449	missense variant	-	NC_000016.10:g.1659950C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro769Leu	rs1248201747	missense variant	-	NC_000016.10:g.1659956C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly770Val	rs1255062349	missense variant	-	NC_000016.10:g.1659959G>T	gnomAD
CRAMP1	Q96RY5	p.Val773Ala	rs756161025	missense variant	-	NC_000016.10:g.1659968T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val775Ile	rs754951039	missense variant	-	NC_000016.10:g.1659973G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser776Ile	rs1039708181	missense variant	-	NC_000016.10:g.1659977G>T	TOPMed
CRAMP1	Q96RY5	p.Ser777Phe	rs1192679325	missense variant	-	NC_000016.10:g.1659980C>T	TOPMed
CRAMP1	Q96RY5	p.Arg778His	rs1322820687	missense variant	-	NC_000016.10:g.1659983G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg778Cys	rs1383635649	missense variant	-	NC_000016.10:g.1659982C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser779Asn	rs747941119	missense variant	-	NC_000016.10:g.1659986G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser779Gly	rs1366268249	missense variant	-	NC_000016.10:g.1659985A>G	gnomAD
CRAMP1	Q96RY5	p.Pro780Ala	rs1262372320	missense variant	-	NC_000016.10:g.1659988C>G	TOPMed
CRAMP1	Q96RY5	p.Arg781Cys	rs746650368	missense variant	-	NC_000016.10:g.1659991C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg781His	rs770641600	missense variant	-	NC_000016.10:g.1659992G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Cys782Arg	rs1349005336	missense variant	-	NC_000016.10:g.1659994T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro783Ser	rs374299928	missense variant	-	NC_000016.10:g.1659997C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro783His	rs536165085	missense variant	-	NC_000016.10:g.1659998C>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro783Leu	rs536165085	missense variant	-	NC_000016.10:g.1659998C>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg784Gln	rs1464600819	missense variant	-	NC_000016.10:g.1660001G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg784Trp	rs762190804	missense variant	-	NC_000016.10:g.1660000C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln786Arg	rs370505312	missense variant	-	NC_000016.10:g.1660007A>G	ESP,TOPMed
CRAMP1	Q96RY5	p.Leu789Pro	rs1433219826	missense variant	-	NC_000016.10:g.1660016T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg790His	rs773417565	missense variant	-	NC_000016.10:g.1660019G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg790Leu	rs773417565	missense variant	-	NC_000016.10:g.1660019G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg790Cys	rs1393732339	missense variant	-	NC_000016.10:g.1660018C>T	TOPMed
CRAMP1	Q96RY5	p.Ser791Asn	rs1455269528	missense variant	-	NC_000016.10:g.1660022G>A	gnomAD
CRAMP1	Q96RY5	p.Ser791Gly	rs202027042	missense variant	-	NC_000016.10:g.1660021A>G	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr794Asn	rs766766057	missense variant	-	NC_000016.10:g.1660031C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr794Ile	rs766766057	missense variant	-	NC_000016.10:g.1660031C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro796Leu	rs915938562	missense variant	-	NC_000016.10:g.1660037C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro796Thr	rs112404892	missense variant	-	NC_000016.10:g.1660036C>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro796Ala	rs112404892	missense variant	-	NC_000016.10:g.1660036C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro797Ser	rs1306371639	missense variant	-	NC_000016.10:g.1660039C>T	gnomAD
CRAMP1	Q96RY5	p.Ala800Thr	rs61746425	missense variant	-	NC_000016.10:g.1660048G>A	gnomAD
CRAMP1	Q96RY5	p.Ala800Pro	rs61746425	missense variant	-	NC_000016.10:g.1660048G>C	gnomAD
CRAMP1	Q96RY5	p.Ala800Val	rs200073715	missense variant	-	NC_000016.10:g.1660049C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser803Phe	rs777430946	missense variant	-	NC_000016.10:g.1660058C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly805Arg	rs1488527648	missense variant	-	NC_000016.10:g.1660063G>C	gnomAD
CRAMP1	Q96RY5	p.Gly805Val	rs887680348	missense variant	-	NC_000016.10:g.1662490G>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly805Asp	rs887680348	missense variant	-	NC_000016.10:g.1662490G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn808His	rs1431627538	missense variant	-	NC_000016.10:g.1662498A>C	gnomAD
CRAMP1	Q96RY5	p.Pro809Leu	rs757079031	missense variant	-	NC_000016.10:g.1662502C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro809Arg	rs757079031	missense variant	-	NC_000016.10:g.1662502C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro809Ser	rs1375430585	missense variant	-	NC_000016.10:g.1662501C>T	gnomAD
CRAMP1	Q96RY5	p.Pro810Ala	rs1462706562	missense variant	-	NC_000016.10:g.1662504C>G	TOPMed
CRAMP1	Q96RY5	p.Arg811Gly	rs1305000726	missense variant	-	NC_000016.10:g.1662507A>G	gnomAD
CRAMP1	Q96RY5	p.Leu814Ser	rs1381321484	missense variant	-	NC_000016.10:g.1662517T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val815Ala	rs1470240482	missense variant	-	NC_000016.10:g.1662520T>C	TOPMed
CRAMP1	Q96RY5	p.Pro816Ala	rs369489514	missense variant	-	NC_000016.10:g.1662522C>G	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro816Arg	rs1036554119	missense variant	-	NC_000016.10:g.1662523C>G	TOPMed
CRAMP1	Q96RY5	p.Pro816Ser	rs369489514	missense variant	-	NC_000016.10:g.1662522C>T	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly817Val	rs1197454072	missense variant	-	NC_000016.10:g.1662526G>T	TOPMed
CRAMP1	Q96RY5	p.Ser819Pro	rs1343697405	missense variant	-	NC_000016.10:g.1662531T>C	gnomAD
CRAMP1	Q96RY5	p.Ser819Phe	rs755554549	missense variant	-	NC_000016.10:g.1662532C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly822Arg	rs536734837	missense variant	-	NC_000016.10:g.1662540G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser823Thr	rs1195815304	missense variant	-	NC_000016.10:g.1662544G>C	TOPMed
CRAMP1	Q96RY5	p.Asn824Asp	rs1463738022	missense variant	-	NC_000016.10:g.1662546A>G	TOPMed
CRAMP1	Q96RY5	p.Asn824Ser	rs772436155	missense variant	-	NC_000016.10:g.1662547A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp825Gly	rs1485396628	missense variant	-	NC_000016.10:g.1662550A>G	gnomAD
CRAMP1	Q96RY5	p.Gly828Arg	rs778381966	missense variant	-	NC_000016.10:g.1662558G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly828Val	rs747335674	missense variant	-	NC_000016.10:g.1662559G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu830Phe	rs1352985988	missense variant	-	NC_000016.10:g.1662564C>T	TOPMed
CRAMP1	Q96RY5	p.Leu830Val	rs1352985988	missense variant	-	NC_000016.10:g.1662564C>G	TOPMed
CRAMP1	Q96RY5	p.Pro834Leu	rs759838917	missense variant	-	NC_000016.10:g.1662577C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr836Ala	rs770117368	missense variant	-	NC_000016.10:g.1662582A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro839Leu	rs1046185385	missense variant	-	NC_000016.10:g.1662592C>T	TOPMed
CRAMP1	Q96RY5	p.Asn840Ser	rs1430384197	missense variant	-	NC_000016.10:g.1662595A>G	gnomAD
CRAMP1	Q96RY5	p.Arg842Gln	rs1287473738	missense variant	-	NC_000016.10:g.1662601G>A	gnomAD
CRAMP1	Q96RY5	p.Arg842Ter	rs1303886936	stop gained	-	NC_000016.10:g.1662600C>T	TOPMed
CRAMP1	Q96RY5	p.His843Arg	rs775413489	missense variant	-	NC_000016.10:g.1662604A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.His843Tyr	rs904822536	missense variant	-	NC_000016.10:g.1662603C>T	TOPMed
CRAMP1	Q96RY5	p.Gly844Arg	rs763900969	missense variant	-	NC_000016.10:g.1662606G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu846Val	rs761540603	missense variant	-	NC_000016.10:g.1662612C>G	ExAC
CRAMP1	Q96RY5	p.Phe847Ser	rs763311481	missense variant	-	NC_000016.10:g.1662616T>C	gnomAD
CRAMP1	Q96RY5	p.Ser850Asn	rs146404798	missense variant	-	NC_000016.10:g.1662625G>A	1000Genomes,TOPMed
CRAMP1	Q96RY5	p.Ala853Thr	rs545394109	missense variant	-	NC_000016.10:g.1662633G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr856Ser	rs1466450946	missense variant	-	NC_000016.10:g.1662643C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr856Ile	rs1466450946	missense variant	-	NC_000016.10:g.1662643C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Phe857Leu	rs779805004	missense variant	-	NC_000016.10:g.1662647C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Phe857Val	rs1252475548	missense variant	-	NC_000016.10:g.1662645T>G	gnomAD
CRAMP1	Q96RY5	p.Arg858Cys	rs754545843	missense variant	-	NC_000016.10:g.1662648C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg858His	rs778089266	missense variant	-	NC_000016.10:g.1662649G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln859Arg	rs1020783857	missense variant	-	NC_000016.10:g.1662652A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn862Ser	rs967429326	missense variant	-	NC_000016.10:g.1662661A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile864Val	rs1001038539	missense variant	-	NC_000016.10:g.1662666A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser865Asn	rs771350552	missense variant	-	NC_000016.10:g.1662670G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser865Thr	rs771350552	missense variant	-	NC_000016.10:g.1662670G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln867Arg	rs758017798	missense variant	-	NC_000016.10:g.1662765A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln867Ter	rs1418203059	stop gained	-	NC_000016.10:g.1662764C>T	gnomAD
CRAMP1	Q96RY5	p.Gln867His	rs1232269585	missense variant	-	NC_000016.10:g.1662766G>T	TOPMed
CRAMP1	Q96RY5	p.Ser868Leu	rs1169924344	missense variant	-	NC_000016.10:g.1662768C>T	gnomAD
CRAMP1	Q96RY5	p.Pro875Ser	rs750956677	missense variant	-	NC_000016.10:g.1662788C>T	ExAC
CRAMP1	Q96RY5	p.Pro875Leu	rs756367996	missense variant	-	NC_000016.10:g.1662789C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys877Thr	rs1341993238	missense variant	-	NC_000016.10:g.1662795A>C	gnomAD
CRAMP1	Q96RY5	p.Arg879Gln	rs1450505016	missense variant	-	NC_000016.10:g.1662801G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg881Gln	rs749674521	missense variant	-	NC_000016.10:g.1662807G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg881Trp	rs780462220	missense variant	-	NC_000016.10:g.1662806C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg884Trp	rs1042294114	missense variant	-	NC_000016.10:g.1662815C>T	TOPMed
CRAMP1	Q96RY5	p.Lys885Ter	rs755172548	stop gained	-	NC_000016.10:g.1662818A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys885Met	rs779145584	missense variant	-	NC_000016.10:g.1662819A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu887Pro	rs772160637	missense variant	-	NC_000016.10:g.1662825T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser898Leu	rs768480875	missense variant	-	NC_000016.10:g.1665079C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser898Ter	rs768480875	stop gained	-	NC_000016.10:g.1665079C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu899Gly	rs1356678038	missense variant	-	NC_000016.10:g.1665082A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu899Lys	rs1210212849	missense variant	-	NC_000016.10:g.1665081G>A	gnomAD
CRAMP1	Q96RY5	p.Asn900His	rs1381055119	missense variant	-	NC_000016.10:g.1665084A>C	TOPMed
CRAMP1	Q96RY5	p.Asn900Lys	rs559271202	missense variant	-	NC_000016.10:g.1665086C>G	1000Genomes,TOPMed
CRAMP1	Q96RY5	p.Gln901Arg	rs761271868	missense variant	-	NC_000016.10:g.1665088A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.His903Arg	rs376521525	missense variant	-	NC_000016.10:g.1665094A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn904Ser	rs1012802667	missense variant	-	NC_000016.10:g.1665097A>G	TOPMed
CRAMP1	Q96RY5	p.Asn904Asp	rs1447328370	missense variant	-	NC_000016.10:g.1665096A>G	gnomAD
CRAMP1	Q96RY5	p.Val905Ile	rs1268806393	missense variant	-	NC_000016.10:g.1665099G>A	gnomAD
CRAMP1	Q96RY5	p.Cys906Tyr	rs1375672041	missense variant	-	NC_000016.10:g.1665103G>A	gnomAD
CRAMP1	Q96RY5	p.Phe908Leu	rs369831738	missense variant	-	NC_000016.10:g.1665108T>C	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Phe908Cys	rs765589851	missense variant	-	NC_000016.10:g.1665109T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile910Val	rs753123955	missense variant	-	NC_000016.10:g.1665114A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile910Met	rs373148310	missense variant	-	NC_000016.10:g.1665116C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu911Val	rs377270440	missense variant	-	NC_000016.10:g.1665117C>G	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser912Cys	rs745809507	missense variant	-	NC_000016.10:g.1665121C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser912Ala	rs781128527	missense variant	-	NC_000016.10:g.1665120T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asn913Asp	rs1392908277	missense variant	-	NC_000016.10:g.1665123A>G	gnomAD
CRAMP1	Q96RY5	p.Ser914Phe	rs769922762	missense variant	-	NC_000016.10:g.1665127C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val916Ile	rs749145303	missense variant	-	NC_000016.10:g.1665132G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr917Ser	rs768325816	missense variant	-	NC_000016.10:g.1665136C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser921Leu	rs1180347685	missense variant	-	NC_000016.10:g.1666082C>T	gnomAD
CRAMP1	Q96RY5	p.Arg923Gln	rs746567769	missense variant	-	NC_000016.10:g.1666088G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg923Trp	rs1445457686	missense variant	-	NC_000016.10:g.1666087C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile925Val	rs770253104	missense variant	-	NC_000016.10:g.1666093A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gln926Leu	rs544773439	missense variant	-	NC_000016.10:g.1666097A>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln926Arg	rs544773439	missense variant	-	NC_000016.10:g.1666097A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu929Val	rs763322612	missense variant	-	NC_000016.10:g.1666105C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala933Thr	rs1464809357	missense variant	-	NC_000016.10:g.1666117G>A	gnomAD
CRAMP1	Q96RY5	p.Ala933Val	rs1304948996	missense variant	-	NC_000016.10:g.1666118C>T	gnomAD
CRAMP1	Q96RY5	p.Leu934Val	rs1379530094	missense variant	-	NC_000016.10:g.1666120C>G	gnomAD
CRAMP1	Q96RY5	p.Arg936Gln	rs764373660	missense variant	-	NC_000016.10:g.1666127G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro937Leu	rs774850278	missense variant	-	NC_000016.10:g.1666130C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile938Met	rs767829841	missense variant	-	NC_000016.10:g.1666134C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val939Met	rs1310352406	missense variant	-	NC_000016.10:g.1666135G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val939Leu	rs1310352406	missense variant	-	NC_000016.10:g.1666135G>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Lys941Arg	rs750499768	missense variant	-	NC_000016.10:g.1666142A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val942Phe	rs1256334691	missense variant	-	NC_000016.10:g.1666144G>T	gnomAD
CRAMP1	Q96RY5	p.Pro945Leu	rs1260699884	missense variant	-	NC_000016.10:g.1666154C>T	TOPMed
CRAMP1	Q96RY5	p.Gln946Pro	rs777790907	missense variant	-	NC_000016.10:g.1666157A>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln946Ter	rs1461970716	stop gained	-	NC_000016.10:g.1666156C>T	gnomAD
CRAMP1	Q96RY5	p.Gln946Arg	rs777790907	missense variant	-	NC_000016.10:g.1666157A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala947Thr	rs1451340368	missense variant	-	NC_000016.10:g.1666159G>A	gnomAD
CRAMP1	Q96RY5	p.Thr948Met	rs766372583	missense variant	-	NC_000016.10:g.1666163C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser949Asn	rs754733822	missense variant	-	NC_000016.10:g.1666166G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.His950Gln	rs1407236917	missense variant	-	NC_000016.10:g.1666170C>A	gnomAD
CRAMP1	Q96RY5	p.Ala952Pro	rs748029109	missense variant	-	NC_000016.10:g.1666174G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser953Ile	rs756973137	missense variant	-	NC_000016.10:g.1666422G>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser953Asn	rs756973137	missense variant	-	NC_000016.10:g.1666422G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser953Gly	rs757961173	missense variant	-	NC_000016.10:g.1666177A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile955Thr	rs1180518526	missense variant	-	NC_000016.10:g.1666428T>C	gnomAD
CRAMP1	Q96RY5	p.Ile955Met	rs371924728	missense variant	-	NC_000016.10:g.1666429C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile955Val	rs368231819	missense variant	-	NC_000016.10:g.1666427A>G	1000Genomes,ESP,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp956Asn	rs769013086	missense variant	-	NC_000016.10:g.1666430G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu957Ser	rs551703109	missense variant	-	NC_000016.10:g.1666434T>C	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala959Val	rs1163653973	missense variant	-	NC_000016.10:g.1666440C>T	gnomAD
CRAMP1	Q96RY5	p.Ser961Asn	rs773500036	missense variant	-	NC_000016.10:g.1666446G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser961Arg	rs1407889881	missense variant	-	NC_000016.10:g.1666445A>C	gnomAD
CRAMP1	Q96RY5	p.Gly963Cys	rs570491301	missense variant	-	NC_000016.10:g.1666451G>T	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly963Ser	rs570491301	missense variant	-	NC_000016.10:g.1666451G>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu965Arg	rs1328103825	missense variant	-	NC_000016.10:g.1666458T>G	TOPMed
CRAMP1	Q96RY5	p.Ser966Pro	rs1283758548	missense variant	-	NC_000016.10:g.1666460T>C	gnomAD
CRAMP1	Q96RY5	p.Gly967Arg	rs759698106	missense variant	-	NC_000016.10:g.1666463G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asn968Tyr	rs765042149	missense variant	-	NC_000016.10:g.1666466A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro969Ala	rs752700402	missense variant	-	NC_000016.10:g.1666469C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro969Ser	rs752700402	missense variant	-	NC_000016.10:g.1666469C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro971Thr	rs375018736	missense variant	-	NC_000016.10:g.1666475C>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp974Asn	rs1237141885	missense variant	-	NC_000016.10:g.1666484G>A	gnomAD
CRAMP1	Q96RY5	p.Glu976Gly	rs1018991461	missense variant	-	NC_000016.10:g.1666491A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu976Lys	rs566177647	missense variant	-	NC_000016.10:g.1666490G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly977Cys	rs369192985	missense variant	-	NC_000016.10:g.1666493G>T	ESP,TOPMed
CRAMP1	Q96RY5	p.Leu978Phe	rs780863297	missense variant	-	NC_000016.10:g.1666498G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly980Asp	rs372466817	missense variant	-	NC_000016.10:g.1666503G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile981Thr	rs1388990272	missense variant	-	NC_000016.10:g.1666506T>C	gnomAD
CRAMP1	Q96RY5	p.Ser982Pro	rs1265842180	missense variant	-	NC_000016.10:g.1666508T>C	TOPMed
CRAMP1	Q96RY5	p.Ser982Cys	rs1170337234	missense variant	-	NC_000016.10:g.1666509C>G	gnomAD
CRAMP1	Q96RY5	p.Leu984Val	rs779232207	missense variant	-	NC_000016.10:g.1666514C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu984Arg	rs1413754602	missense variant	-	NC_000016.10:g.1666515T>G	gnomAD
CRAMP1	Q96RY5	p.Ser985Phe	rs1331943292	missense variant	-	NC_000016.10:g.1666518C>T	gnomAD
CRAMP1	Q96RY5	p.Ser986Ala	rs748691370	missense variant	-	NC_000016.10:g.1666520T>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu988Gly	rs747427403	missense variant	-	NC_000016.10:g.1666527A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Glu988Lys	rs372834355	missense variant	-	NC_000016.10:g.1666526G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val989Met	rs1272377755	missense variant	-	NC_000016.10:g.1666529G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr990Met	rs61741505	missense variant	-	NC_000016.10:g.1666533C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr990Ser	rs1340665313	missense variant	-	NC_000016.10:g.1666532A>T	gnomAD
CRAMP1	Q96RY5	p.Ala992Gly	rs745884113	missense variant	-	NC_000016.10:g.1666539C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala992Pro	rs1443838044	missense variant	-	NC_000016.10:g.1666538G>C	gnomAD
CRAMP1	Q96RY5	p.Ala992Val	rs745884113	missense variant	-	NC_000016.10:g.1666539C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile993Leu	rs775501492	missense variant	-	NC_000016.10:g.1666541A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser994Leu	rs373808650	missense variant	-	NC_000016.10:g.1666545C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly995Val	rs1477638466	missense variant	-	NC_000016.10:g.1666548G>T	gnomAD
CRAMP1	Q96RY5	p.Gln996His	rs1404024130	missense variant	-	NC_000016.10:g.1666552G>C	gnomAD
CRAMP1	Q96RY5	p.Gln996Ter	rs984646961	stop gained	-	NC_000016.10:g.1666550C>T	TOPMed
CRAMP1	Q96RY5	p.Thr999Ile	rs761628477	missense variant	-	NC_000016.10:g.1666560C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1004Asn	rs767029837	missense variant	-	NC_000016.10:g.1666574G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1004Val	rs1433069840	missense variant	-	NC_000016.10:g.1666575A>T	gnomAD
CRAMP1	Q96RY5	p.Gly1005Ala	rs750105642	missense variant	-	NC_000016.10:g.1666578G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr1007Asn	rs753455308	missense variant	-	NC_000016.10:g.1666584C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1008His	rs1326049053	missense variant	-	NC_000016.10:g.1666587T>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu1008Pro	rs1326049053	missense variant	-	NC_000016.10:g.1666587T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1009Leu	rs1223761854	missense variant	-	NC_000016.10:g.1666590C>T	gnomAD
CRAMP1	Q96RY5	p.Thr1010Ile	rs1267164682	missense variant	-	NC_000016.10:g.1666593C>T	gnomAD
CRAMP1	Q96RY5	p.Val1011Leu	rs201157275	missense variant	-	NC_000016.10:g.1666595G>C	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1011Met	rs201157275	missense variant	-	NC_000016.10:g.1666595G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1011Ala	rs747333617	missense variant	-	NC_000016.10:g.1666596T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val1011Leu	rs201157275	missense variant	-	NC_000016.10:g.1666595G>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly1013Ser	rs1457519003	missense variant	-	NC_000016.10:g.1667335G>A	gnomAD
CRAMP1	Q96RY5	p.Ser1014Cys	rs969629329	missense variant	-	NC_000016.10:g.1667339C>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1015Asn	rs768371106	missense variant	-	NC_000016.10:g.1667341G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1015Gly	rs1307829380	missense variant	-	NC_000016.10:g.1667342A>G	gnomAD
CRAMP1	Q96RY5	p.Ile1020Val	rs1307189316	missense variant	-	NC_000016.10:g.1667356A>G	gnomAD
CRAMP1	Q96RY5	p.Ser1022Leu	rs768738069	missense variant	-	NC_000016.10:g.1667363C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1022Thr	rs527913798	missense variant	-	NC_000016.10:g.1667362T>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Glu1027Gln	rs185409776	missense variant	-	NC_000016.10:g.1667377G>C	1000Genomes,gnomAD
CRAMP1	Q96RY5	p.Pro1028Leu	rs748076246	missense variant	-	NC_000016.10:g.1667381C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1031Gly	rs368602730	missense variant	-	NC_000016.10:g.1667390A>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1031Val	rs368602730	missense variant	-	NC_000016.10:g.1667390A>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1032Gly	rs776441540	missense variant	-	NC_000016.10:g.1667392A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1032Arg	rs759056569	missense variant	-	NC_000016.10:g.1667394T>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln1034His	rs368039138	missense variant	-	NC_000016.10:g.1667400G>C	ESP,ExAC,TOPMed
CRAMP1	Q96RY5	p.Gly1035Asp	rs759256028	missense variant	-	NC_000016.10:g.1667963G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1036Leu	rs1406193372	missense variant	-	NC_000016.10:g.1667966C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1037Tyr	rs769621256	missense variant	-	NC_000016.10:g.1667969C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Val1038Leu	rs561147518	missense variant	-	NC_000016.10:g.1667971G>C	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Val1038Ala	rs1215038267	missense variant	-	NC_000016.10:g.1667972T>C	gnomAD
CRAMP1	Q96RY5	p.Leu1039Pro	rs1300368337	missense variant	-	NC_000016.10:g.1667975T>C	gnomAD
CRAMP1	Q96RY5	p.Leu1041Phe	rs1208235654	missense variant	-	NC_000016.10:g.1667982A>T	gnomAD
CRAMP1	Q96RY5	p.Leu1041Ser	rs750911902	missense variant	-	NC_000016.10:g.1667981T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1041Ile	rs768019391	missense variant	-	NC_000016.10:g.1667980T>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1042Pro	rs1032319962	missense variant	-	NC_000016.10:g.1667983T>C	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu1043Asp	rs560160907	missense variant	-	NC_000016.10:g.1667988G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1047Ser	rs1053582606	missense variant	-	NC_000016.10:g.1667998G>T	TOPMed
CRAMP1	Q96RY5	p.Ala1047Gly	rs766728095	missense variant	-	NC_000016.10:g.1667999C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro1048Arg	rs369042741	missense variant	-	NC_000016.10:g.1668002C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1048Leu	rs369042741	missense variant	-	NC_000016.10:g.1668002C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu1049Ile	rs371340604	missense variant	-	NC_000016.10:g.1668004C>A	ESP,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gln1050Ter	rs1365253385	stop gained	-	NC_000016.10:g.1668007C>T	TOPMed
CRAMP1	Q96RY5	p.Gln1050His	rs1025460930	missense variant	-	NC_000016.10:g.1668009G>T	gnomAD
CRAMP1	Q96RY5	p.Gly1052Ala	rs1156343541	missense variant	-	NC_000016.10:g.1668014G>C	gnomAD
CRAMP1	Q96RY5	p.Leu1053Phe	rs1459517777	missense variant	-	NC_000016.10:g.1668016C>T	TOPMed
CRAMP1	Q96RY5	p.Leu1053Pro	rs1011578658	missense variant	-	NC_000016.10:g.1668017T>C	TOPMed
CRAMP1	Q96RY5	p.Ile1055Val	rs528913473	missense variant	-	NC_000016.10:g.1668022A>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile1055Thr	rs1456603059	missense variant	-	NC_000016.10:g.1668023T>C	TOPMed
CRAMP1	Q96RY5	p.Pro1056Ser	rs777708207	missense variant	-	NC_000016.10:g.1668025C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1056Leu	rs757328704	missense variant	-	NC_000016.10:g.1668026C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1056Thr	rs777708207	missense variant	-	NC_000016.10:g.1668025C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu1057Pro	rs769532726	missense variant	-	NC_000016.10:g.1668029T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1057Arg	rs769532726	missense variant	-	NC_000016.10:g.1668029T>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1059Leu	rs1318740949	missense variant	-	NC_000016.10:g.1668035C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1060Leu	rs773981549	missense variant	-	NC_000016.10:g.1668038C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1060Ala	rs527303179	missense variant	-	NC_000016.10:g.1668037T>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1062Gly	rs201284222	missense variant	-	NC_000016.10:g.1668043A>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1062Asn	rs1269986707	missense variant	-	NC_000016.10:g.1668044G>A	gnomAD
CRAMP1	Q96RY5	p.Ser1063Cys	rs1270563399	missense variant	-	NC_000016.10:g.1668047C>G	TOPMed
CRAMP1	Q96RY5	p.Thr1065Ser	rs1222139627	missense variant	-	NC_000016.10:g.1668052A>T	TOPMed
CRAMP1	Q96RY5	p.Arg1066Gln	rs776947246	missense variant	-	NC_000016.10:g.1668056G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1069Leu	rs961673221	missense variant	-	NC_000016.10:g.1668065C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1070Ala	rs201809618	missense variant	-	NC_000016.10:g.1668067C>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1072Ala	rs763487231	missense variant	-	NC_000016.10:g.1668074T>C	gnomAD
CRAMP1	Q96RY5	p.Val1072Ile	rs752875816	missense variant	-	NC_000016.10:g.1668073G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1074Asp	rs1457817094	missense variant	-	NC_000016.10:g.1668080C>A	TOPMed
CRAMP1	Q96RY5	p.Leu1076Phe	rs1389368940	missense variant	-	NC_000016.10:g.1668085C>T	TOPMed
CRAMP1	Q96RY5	p.Asp1077Asn	rs986388090	missense variant	-	NC_000016.10:g.1668088G>A	TOPMed
CRAMP1	Q96RY5	p.Ile1078Thr	rs1176368479	missense variant	-	NC_000016.10:g.1668092T>C	TOPMed
CRAMP1	Q96RY5	p.Ile1078Val	rs1289205136	missense variant	-	NC_000016.10:g.1668091A>G	gnomAD
CRAMP1	Q96RY5	p.Ile1078Phe	rs1289205136	missense variant	-	NC_000016.10:g.1668091A>T	gnomAD
CRAMP1	Q96RY5	p.Pro1083Leu	rs1016400262	missense variant	-	NC_000016.10:g.1668107C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1084Ser	rs61746451	missense variant	-	NC_000016.10:g.1668109C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1086Val	rs755987546	missense variant	-	NC_000016.10:g.1668116A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1086Gly	rs755987546	missense variant	-	NC_000016.10:g.1668116A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala1087Val	rs376251227	missense variant	-	NC_000016.10:g.1668119C>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1087Thr	rs1188362873	missense variant	-	NC_000016.10:g.1668118G>A	gnomAD
CRAMP1	Q96RY5	p.Gln1090Arg	rs747693903	missense variant	-	NC_000016.10:g.1668128A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Glu1092Lys	rs141603777	missense variant	-	NC_000016.10:g.1668133G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr1095Ile	rs1256916957	missense variant	-	NC_000016.10:g.1668143C>T	TOPMed
CRAMP1	Q96RY5	p.His1096Asp	rs777141622	missense variant	-	NC_000016.10:g.1668145C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asp1099Glu	rs1380587649	missense variant	-	NC_000016.10:g.1668156C>G	gnomAD
CRAMP1	Q96RY5	p.Asp1099Asn	rs759832189	missense variant	-	NC_000016.10:g.1668154G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile1102Met	rs539021325	missense variant	-	NC_000016.10:g.1668165T>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu1103Gln	rs1435909592	missense variant	-	NC_000016.10:g.1668166G>C	TOPMed
CRAMP1	Q96RY5	p.Ile1104Phe	rs1342065340	missense variant	-	NC_000016.10:g.1668169A>T	gnomAD
CRAMP1	Q96RY5	p.Ala1105Thr	rs763071302	missense variant	-	NC_000016.10:g.1668172G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ile1106Val	rs751554390	missense variant	-	NC_000016.10:g.1668175A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1107Gly	rs1240734764	missense variant	-	NC_000016.10:g.1668178A>G	gnomAD
CRAMP1	Q96RY5	p.Ser1108Thr	rs1462225676	missense variant	-	NC_000016.10:g.1668181T>A	gnomAD
CRAMP1	Q96RY5	p.Gly1109Ser	rs551374666	missense variant	-	NC_000016.10:g.1668184G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly1109Arg	rs551374666	missense variant	-	NC_000016.10:g.1668184G>C	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Tyr1111Ser	rs750395226	missense variant	-	NC_000016.10:g.1668191A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1112Ser	rs779703361	missense variant	-	NC_000016.10:g.1668193G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Gly1112Asp	rs767705444	missense variant	-	NC_000016.10:g.1669001G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1115Ile	rs750593408	missense variant	-	NC_000016.10:g.1669009G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro1116His	rs1223697357	missense variant	-	NC_000016.10:g.1669013C>A	gnomAD
CRAMP1	Q96RY5	p.Pro1116Ser	rs760671014	missense variant	-	NC_000016.10:g.1669012C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1116Ala	rs760671014	missense variant	-	NC_000016.10:g.1669012C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Leu1117Pro	rs1256830369	missense variant	-	NC_000016.10:g.1669016T>C	TOPMed
CRAMP1	Q96RY5	p.Ser1118Phe	rs1347846882	missense variant	-	NC_000016.10:g.1669019C>T	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1118Pro	rs374312197	missense variant	-	NC_000016.10:g.1669018T>C	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1119Ala	rs753534037	missense variant	-	NC_000016.10:g.1669021C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1122Met	rs1490157045	missense variant	-	NC_000016.10:g.1669030C>A	gnomAD
CRAMP1	Q96RY5	p.Gly1124Val	rs1229212450	missense variant	-	NC_000016.10:g.1669037G>T	TOPMed
CRAMP1	Q96RY5	p.Ser1125Asn	rs200956828	missense variant	-	NC_000016.10:g.1669040G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1125Ile	rs200956828	missense variant	-	NC_000016.10:g.1669040G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1125Gly	rs201896175	missense variant	-	NC_000016.10:g.1669039A>G	1000Genomes
CRAMP1	Q96RY5	p.Ser1127Asn	rs1363316585	missense variant	-	NC_000016.10:g.1669046G>A	gnomAD
CRAMP1	Q96RY5	p.Ser1127Arg	rs1200325365	missense variant	-	NC_000016.10:g.1669045A>C	gnomAD
CRAMP1	Q96RY5	p.Ser1128Tyr	rs113077689	missense variant	-	NC_000016.10:g.1669049C>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1128Cys	rs113077689	missense variant	-	NC_000016.10:g.1669049C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1132Thr	rs746569774	missense variant	-	NC_000016.10:g.1669060C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1133Ala	rs1301707439	missense variant	-	NC_000016.10:g.1669063T>G	gnomAD
CRAMP1	Q96RY5	p.Ser1133Thr	rs1301707439	missense variant	-	NC_000016.10:g.1669063T>A	gnomAD
CRAMP1	Q96RY5	p.Pro1134Thr	rs370509468	missense variant	-	NC_000016.10:g.1669066C>A	ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro1134Leu	rs780635813	missense variant	-	NC_000016.10:g.1669067C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1137Arg	rs1449540806	missense variant	-	NC_000016.10:g.1669077C>G	TOPMed
CRAMP1	Q96RY5	p.His1141Leu	rs774926972	missense variant	-	NC_000016.10:g.1669088A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.His1141Pro	rs774926972	missense variant	-	NC_000016.10:g.1669088A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.His1141Tyr	rs1279611151	missense variant	-	NC_000016.10:g.1669087C>T	gnomAD
CRAMP1	Q96RY5	p.Ile1143Met	rs772474983	missense variant	-	NC_000016.10:g.1669095C>G	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1144Thr	rs773398102	missense variant	-	NC_000016.10:g.1669096G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Thr1147Ser	rs766176053	missense variant	-	NC_000016.10:g.1669105A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.His1148Arg	rs776639510	missense variant	-	NC_000016.10:g.1669109A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1149Asn	rs765075461	missense variant	-	NC_000016.10:g.1669111G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Pro1150His	rs752545788	missense variant	-	NC_000016.10:g.1669115C>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Tyr1153Cys	rs1162157575	missense variant	-	NC_000016.10:g.1669124A>G	gnomAD
CRAMP1	Q96RY5	p.Ser1155Asn	rs1425758394	missense variant	-	NC_000016.10:g.1669130G>A	gnomAD
CRAMP1	Q96RY5	p.Asp1156Glu	rs763774914	missense variant	-	NC_000016.10:g.1669134C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1157Pro	rs1393943389	missense variant	-	NC_000016.10:g.1669135T>C	gnomAD
CRAMP1	Q96RY5	p.Ser1157Cys	rs751022982	missense variant	-	NC_000016.10:g.1669136C>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1159Asn	rs780359215	missense variant	-	NC_000016.10:g.1669141G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1161Leu	rs1243703679	missense variant	-	NC_000016.10:g.1669148C>T	gnomAD
CRAMP1	Q96RY5	p.Phe1166Val	rs368858091	missense variant	-	NC_000016.10:g.1669162T>G	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile1170Val	rs1286446160	missense variant	-	NC_000016.10:g.1670672A>G	TOPMed
CRAMP1	Q96RY5	p.Ile1170Thr	rs1452975315	missense variant	-	NC_000016.10:g.1670673T>C	gnomAD
CRAMP1	Q96RY5	p.Ser1171Tyr	rs1287100171	missense variant	-	NC_000016.10:g.1670676C>A	gnomAD
CRAMP1	Q96RY5	p.Pro1172Ala	rs1314359484	missense variant	-	NC_000016.10:g.1670678C>G	gnomAD
CRAMP1	Q96RY5	p.Glu1173Gln	rs1363980850	missense variant	-	NC_000016.10:g.1670681G>C	gnomAD
CRAMP1	Q96RY5	p.Ser1175Gly	rs1382607334	missense variant	-	NC_000016.10:g.1670687A>G	gnomAD
CRAMP1	Q96RY5	p.Arg1176Trp	rs959717787	missense variant	-	NC_000016.10:g.1670690C>T	TOPMed
CRAMP1	Q96RY5	p.Arg1176Gln	rs771116293	missense variant	-	NC_000016.10:g.1670691G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Lys1177Arg	rs776750162	missense variant	-	NC_000016.10:g.1670694A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Met1178Ile	rs745972962	missense variant	-	NC_000016.10:g.1670698G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1180Leu	rs377109203	missense variant	-	NC_000016.10:g.1670703C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr1181Ile	rs1441429015	missense variant	-	NC_000016.10:g.1670706C>T	TOPMed
CRAMP1	Q96RY5	p.Ile1183Ser	rs59339153	missense variant	-	NC_000016.10:g.1670712T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ile1183Val	rs1215143307	missense variant	-	NC_000016.10:g.1670711A>G	gnomAD
CRAMP1	Q96RY5	p.Ile1183Phe	rs1215143307	missense variant	-	NC_000016.10:g.1670711A>T	gnomAD
CRAMP1	Q96RY5	p.Ile1183Thr	rs59339153	missense variant	-	NC_000016.10:g.1670712T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Thr1185Ile	rs376262203	missense variant	-	NC_000016.10:g.1670718C>T	ESP,TOPMed
CRAMP1	Q96RY5	p.Ser1187Gly	rs774073119	missense variant	-	NC_000016.10:g.1670723A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1188Ser	rs1268568834	missense variant	-	NC_000016.10:g.1670726G>A	gnomAD
CRAMP1	Q96RY5	p.Gly1188Asp	rs1479272511	missense variant	-	NC_000016.10:g.1670727G>A	gnomAD
CRAMP1	Q96RY5	p.Pro1194Leu	rs947619230	missense variant	-	NC_000016.10:g.1670745C>T	-
CRAMP1	Q96RY5	p.Gly1199Arg	rs760286999	missense variant	-	NC_000016.10:g.1670759G>A	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ser1201Leu	rs765778573	missense variant	-	NC_000016.10:g.1670766C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg1202Trp	rs534702752	missense variant	-	NC_000016.10:g.1670768C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1202Gln	rs1285496501	missense variant	-	NC_000016.10:g.1670769G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1202Gly	rs534702752	missense variant	-	NC_000016.10:g.1670768C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ser1204Leu	rs1223331349	missense variant	-	NC_000016.10:g.1670775C>T	gnomAD
CRAMP1	Q96RY5	p.Phe1205Leu	rs1304933732	missense variant	-	NC_000016.10:g.1670779T>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1206Met	rs1319280736	missense variant	-	NC_000016.10:g.1670780G>A	gnomAD
CRAMP1	Q96RY5	p.Arg1208Gly	rs936715308	missense variant	-	NC_000016.10:g.1670786A>G	TOPMed
CRAMP1	Q96RY5	p.Ser1209Phe	rs757470497	missense variant	-	NC_000016.10:g.1670790C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Leu1210Arg	rs1347214052	missense variant	-	NC_000016.10:g.1670793T>G	TOPMed
CRAMP1	Q96RY5	p.Val1213Ile	rs371068391	missense variant	-	NC_000016.10:g.1670801G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1214Val	rs1469284862	missense variant	-	NC_000016.10:g.1670805C>T	gnomAD
CRAMP1	Q96RY5	p.Glu1215Gly	rs1174993691	missense variant	-	NC_000016.10:g.1670808A>G	gnomAD
CRAMP1	Q96RY5	p.Val1216Ala	rs1336134099	missense variant	-	NC_000016.10:g.1673882T>C	gnomAD
CRAMP1	Q96RY5	p.Val1217Leu	rs778740988	missense variant	-	NC_000016.10:g.1673884G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Met1224Val	rs771764619	missense variant	-	NC_000016.10:g.1673905A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Met1224Thr	rs773124425	missense variant	-	NC_000016.10:g.1673906T>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asn1226Ser	rs1177959450	missense variant	-	NC_000016.10:g.1673912A>G	TOPMed
CRAMP1	Q96RY5	p.Ile1233Val	rs1318131552	missense variant	-	NC_000016.10:g.1673932A>G	gnomAD
CRAMP1	Q96RY5	p.Ser1234Ala	rs1241632488	missense variant	-	NC_000016.10:g.1673935T>G	TOPMed
CRAMP1	Q96RY5	p.Arg1235Trp	rs770753472	missense variant	-	NC_000016.10:g.1673938C>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1235Leu	rs751287265	missense variant	-	NC_000016.10:g.1673939G>T	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1235Gln	rs751287265	missense variant	-	NC_000016.10:g.1673939G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1235Pro	rs751287265	missense variant	-	NC_000016.10:g.1673939G>C	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn1237Ser	rs954450533	missense variant	-	NC_000016.10:g.1673945A>G	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Asn1237His	rs774732375	missense variant	-	NC_000016.10:g.1673944A>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Asn1237Asp	rs774732375	missense variant	-	NC_000016.10:g.1673944A>G	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala1240Ser	rs1018206400	missense variant	-	NC_000016.10:g.1673953G>T	gnomAD
CRAMP1	Q96RY5	p.Ile1245Phe	rs767759770	missense variant	-	NC_000016.10:g.1673968A>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Ala1246Ser	rs367605120	missense variant	-	NC_000016.10:g.1673971G>T	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Ala1246Val	rs1403911087	missense variant	-	NC_000016.10:g.1673972C>T	gnomAD
CRAMP1	Q96RY5	p.Ala1246Thr	rs367605120	missense variant	-	NC_000016.10:g.1673971G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Pro1248Leu	rs753870206	missense variant	-	NC_000016.10:g.1673978C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg1250Cys	rs755030192	missense variant	-	NC_000016.10:g.1673983C>T	ExAC,gnomAD
CRAMP1	Q96RY5	p.Arg1250His	rs778839791	missense variant	-	NC_000016.10:g.1673984G>A	ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Arg1251Gln	rs929504482	missense variant	-	NC_000016.10:g.1673987G>A	TOPMed,gnomAD
CRAMP1	Q96RY5	p.Glu1252Ter	rs1451547341	stop gained	-	NC_000016.10:g.1673989G>T	TOPMed
CRAMP1	Q96RY5	p.Asp1256Gly	rs368501359	missense variant	-	NC_000016.10:g.1674002A>G	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Asp1256Val	rs368501359	missense variant	-	NC_000016.10:g.1674002A>T	1000Genomes,ESP,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1257Asp	rs532337782	missense variant	-	NC_000016.10:g.1674005G>A	1000Genomes,ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1258Ala	rs746838954	missense variant	-	NC_000016.10:g.1674008G>C	ExAC,gnomAD
CRAMP1	Q96RY5	p.Gly1261Ser	rs1283560875	missense variant	-	NC_000016.10:g.1674016G>A	gnomAD
CRAMP1	Q96RY5	p.Gly1261Asp	rs1445184712	missense variant	-	NC_000016.10:g.1674017G>A	gnomAD
CRAMP1	Q96RY5	p.Ala1263Thr	rs199923669	missense variant	-	NC_000016.10:g.1674022G>A	ESP,ExAC,TOPMed,gnomAD
CRAMP1	Q96RY5	p.Val1264Ile	rs1383850584	missense variant	-	NC_000016.10:g.1674025G>A	TOPMed
CRAMP1	Q96RY5	p.Asp1266Asn	rs1478271343	missense variant	-	NC_000016.10:g.1674031G>A	gnomAD
CRAMP1	Q96RY5	p.Leu1267Arg	rs1427446560	missense variant	-	NC_000016.10:g.1674035T>G	gnomAD
CRAMP1	Q96RY5	p.Ser1268Cys	rs1479085233	missense variant	-	NC_000016.10:g.1674038C>G	gnomAD
NODAL	Q96S42	p.Ala3Thr	rs369308826	missense variant	-	NC_000010.11:g.70441661C>T	ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Ala3Val	rs781717746	missense variant	-	NC_000010.11:g.70441660G>A	ExAC,gnomAD
NODAL	Q96S42	p.Pro7Leu	rs1323229721	missense variant	-	NC_000010.11:g.70441648G>A	gnomAD
NODAL	Q96S42	p.Pro7Thr	rs575222192	missense variant	-	NC_000010.11:g.70441649G>T	1000Genomes,ExAC,gnomAD
NODAL	Q96S42	p.Leu10Met	rs563120968	missense variant	-	NC_000010.11:g.70441640G>T	1000Genomes,TOPMed,gnomAD
NODAL	Q96S42	p.Ala12Gly	rs1215144471	missense variant	-	NC_000010.11:g.70441633G>C	TOPMed
NODAL	Q96S42	p.Leu17Phe	rs990069140	missense variant	-	NC_000010.11:g.70441619G>A	TOPMed,gnomAD
NODAL	Q96S42	p.Gln18Pro	rs1441391199	missense variant	-	NC_000010.11:g.70441615T>G	gnomAD
NODAL	Q96S42	p.Gln18Arg	rs1441391199	missense variant	-	NC_000010.11:g.70441615T>C	gnomAD
NODAL	Q96S42	p.Ala19Thr	rs1393185892	missense variant	-	NC_000010.11:g.70441613C>T	gnomAD
NODAL	Q96S42	p.Ala19Glu	rs1192993371	missense variant	-	NC_000010.11:g.70441612G>T	TOPMed,gnomAD
NODAL	Q96S42	p.Gly20Ser	rs762619921	missense variant	-	NC_000010.11:g.70441610C>T	ExAC,TOPMed
NODAL	Q96S42	p.Ala21Val	rs1452229395	missense variant	-	NC_000010.11:g.70441606G>A	gnomAD
NODAL	Q96S42	p.Ala22Val	rs1269607863	missense variant	-	NC_000010.11:g.70441603G>A	gnomAD
NODAL	Q96S42	p.Thr23Met	rs750115289	missense variant	-	NC_000010.11:g.70441600G>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Ala25Thr	rs1485678798	missense variant	-	NC_000010.11:g.70441595C>T	gnomAD
NODAL	Q96S42	p.Thr26Ser	rs765059366	missense variant	-	NC_000010.11:g.70441592T>A	ExAC,gnomAD
NODAL	Q96S42	p.Ala27Val	rs1432911277	missense variant	-	NC_000010.11:g.70441588G>A	gnomAD
NODAL	Q96S42	p.Leu28Phe	rs1361094337	missense variant	-	NC_000010.11:g.70441586G>A	TOPMed
NODAL	Q96S42	p.Arg32Trp	rs1234671553	missense variant	-	NC_000010.11:g.70441574G>A	gnomAD
NODAL	Q96S42	p.Arg32Leu	rs768615876	missense variant	-	NC_000010.11:g.70441573C>A	ExAC,gnomAD
NODAL	Q96S42	p.Gly33Glu	rs760567592	missense variant	-	NC_000010.11:g.70441570C>T	ExAC,gnomAD
NODAL	Q96S42	p.Ser36Leu	rs1380108149	missense variant	-	NC_000010.11:g.70441561G>A	gnomAD
NODAL	Q96S42	p.Ala42Val	RCV000302530	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70441543G>A	ClinVar
NODAL	Q96S42	p.Ala42Val	rs146471900	missense variant	-	NC_000010.11:g.70441543G>A	ESP,gnomAD
NODAL	Q96S42	p.Ala42Glu	rs146471900	missense variant	-	NC_000010.11:g.70441543G>T	ESP,gnomAD
NODAL	Q96S42	p.Ala42Val	RCV000390453	missense variant	Heterotaxia	NC_000010.11:g.70441543G>A	ClinVar
NODAL	Q96S42	p.Tyr43Cys	rs774448003	missense variant	-	NC_000010.11:g.70441540T>C	ExAC,gnomAD
NODAL	Q96S42	p.Met44Lys	rs749452324	missense variant	-	NC_000010.11:g.70441537A>T	ExAC,gnomAD
NODAL	Q96S42	p.Met44Leu	rs770936322	missense variant	-	NC_000010.11:g.70441538T>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Met44Ile	rs898049091	missense variant	-	NC_000010.11:g.70441536C>G	TOPMed
NODAL	Q96S42	p.Ser46Asn	rs1478333035	missense variant	-	NC_000010.11:g.70441531C>T	gnomAD
NODAL	Q96S42	p.Tyr48Asp	rs1477581536	missense variant	-	NC_000010.11:g.70441526A>C	gnomAD
NODAL	Q96S42	p.Arg49Gly	rs1386462321	missense variant	-	NC_000010.11:g.70441523G>C	TOPMed
NODAL	Q96S42	p.Arg49Cys	rs1386462321	missense variant	-	NC_000010.11:g.70441523G>A	TOPMed
NODAL	Q96S42	p.Pro51Leu	rs534164882	missense variant	-	NC_000010.11:g.70441516G>A	1000Genomes,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro51Ala	rs1264165819	missense variant	-	NC_000010.11:g.70441517G>C	gnomAD
NODAL	Q96S42	p.Pro51Ser	rs1264165819	missense variant	-	NC_000010.11:g.70441517G>A	gnomAD
NODAL	Q96S42	p.Pro53Leu	rs1201491650	missense variant	-	NC_000010.11:g.70441510G>A	gnomAD
NODAL	Q96S42	p.Arg54Lys	rs573099167	missense variant	-	NC_000010.11:g.70441507C>T	1000Genomes,ExAC,gnomAD
NODAL	Q96S42	p.Ala55Thr	rs1373404828	missense variant	-	NC_000010.11:g.70441505C>T	TOPMed
NODAL	Q96S42	p.Asp56Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70441502C>T	NCI-TCGA
NODAL	Q96S42	p.Ile57Asn	rs755474548	missense variant	-	NC_000010.11:g.70441498A>T	ExAC,gnomAD
NODAL	Q96S42	p.Ile57Leu	rs781453947	missense variant	-	NC_000010.11:g.70441499T>G	ExAC,gnomAD
NODAL	Q96S42	p.Ile58Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70441495A>G	NCI-TCGA
NODAL	Q96S42	p.Arg59Leu	rs752031634	missense variant	-	NC_000010.11:g.70441492C>A	ExAC,gnomAD
NODAL	Q96S42	p.Ser60Asn	rs1353285969	missense variant	-	NC_000010.11:g.70441489C>T	gnomAD
NODAL	Q96S42	p.Ala63Val	rs1414914299	missense variant	-	NC_000010.11:g.70441480G>A	TOPMed,gnomAD
NODAL	Q96S42	p.Ala63Glu	rs1414914299	missense variant	-	NC_000010.11:g.70441480G>T	TOPMed,gnomAD
NODAL	Q96S42	p.Glu64Lys	rs1166158482	missense variant	-	NC_000010.11:g.70441478C>T	gnomAD
NODAL	Q96S42	p.Asp65Asn	rs1219433400	missense variant	-	NC_000010.11:g.70441475C>T	TOPMed
NODAL	Q96S42	p.Val66Glu	rs1449441105	missense variant	-	NC_000010.11:g.70435980A>T	gnomAD
NODAL	Q96S42	p.Val68Ala	rs886047105	missense variant	-	NC_000010.11:g.70435974A>G	gnomAD
NODAL	Q96S42	p.Val68Ala	RCV000350811	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435974A>G	ClinVar
NODAL	Q96S42	p.Val68Ala	RCV000372771	missense variant	Heterotaxia	NC_000010.11:g.70435974A>G	ClinVar
NODAL	Q96S42	p.Val68Met	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435975C>T	NCI-TCGA
NODAL	Q96S42	p.Asp69Tyr	rs1277590262	missense variant	-	NC_000010.11:g.70435972C>A	TOPMed,gnomAD
NODAL	Q96S42	p.Gln71Lys	rs748403461	missense variant	-	NC_000010.11:g.70435966G>T	ExAC,gnomAD
NODAL	Q96S42	p.Asn72Lys	rs138195571	missense variant	-	NC_000010.11:g.70435961G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Trp73Leu	rs1323418445	missense variant	-	NC_000010.11:g.70435959C>A	TOPMed,gnomAD
NODAL	Q96S42	p.Thr74Met	RCV000271207	missense variant	Heterotaxia	NC_000010.11:g.70435956G>A	ClinVar
NODAL	Q96S42	p.Thr74Met	RCV000330986	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435956G>A	ClinVar
NODAL	Q96S42	p.Thr74Met	rs886047104	missense variant	-	NC_000010.11:g.70435956G>A	TOPMed,gnomAD
NODAL	Q96S42	p.Ala76Val	rs780420812	missense variant	-	NC_000010.11:g.70435950G>A	ExAC,gnomAD
NODAL	Q96S42	p.Ala76Thr	rs1349418733	missense variant	-	NC_000010.11:g.70435951C>T	gnomAD
NODAL	Q96S42	p.Phe81Leu	rs200705528	missense variant	-	NC_000010.11:g.70435936A>G	ESP,TOPMed,gnomAD
NODAL	Q96S42	p.Gln84Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.70435927G>A	NCI-TCGA
NODAL	Q96S42	p.Glu86Lys	rs147012385	missense variant	-	NC_000010.11:g.70435921C>T	1000Genomes,ExAC,gnomAD
NODAL	Q96S42	p.Trp90Arg	rs1382696912	missense variant	-	NC_000010.11:g.70435909A>G	gnomAD
NODAL	Q96S42	p.Glu92Lys	rs1192370600	missense variant	-	NC_000010.11:g.70435903C>T	gnomAD
NODAL	Q96S42	p.Arg94Gln	RCV000360224	missense variant	Heterotaxia	NC_000010.11:g.70435896C>T	ClinVar
NODAL	Q96S42	p.Arg94Gln	RCV000270266	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435896C>T	ClinVar
NODAL	Q96S42	p.Arg94Trp	RCV000325273	missense variant	Heterotaxia	NC_000010.11:g.70435897G>A	ClinVar
NODAL	Q96S42	p.Arg94Trp	RCV000384350	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435897G>A	ClinVar
NODAL	Q96S42	p.Arg94Trp	rs778607015	missense variant	-	NC_000010.11:g.70435897G>A	ExAC,gnomAD
NODAL	Q96S42	p.Arg94Gln	rs146018217	missense variant	-	NC_000010.11:g.70435896C>T	ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Ser98Pro	rs752600236	missense variant	-	NC_000010.11:g.70435885A>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Ser99Arg	COSM685474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435880G>C	NCI-TCGA Cosmic
NODAL	Q96S42	p.Ser99Ter	RCV000305471	frameshift	NODAL-Related Disorders	NC_000010.11:g.70435881del	ClinVar
NODAL	Q96S42	p.Ser99Gly	rs767425070	missense variant	-	NC_000010.11:g.70435882T>C	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro100Ala	COSM3790916	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435879G>C	NCI-TCGA Cosmic
NODAL	Q96S42	p.Val101Leu	rs773239739	missense variant	-	NC_000010.11:g.70435876C>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Val101Met	rs773239739	missense variant	-	NC_000010.11:g.70435876C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro104AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.70435868_70435869insCA	NCI-TCGA
NODAL	Q96S42	p.Thr105Ala	rs761968038	missense variant	-	NC_000010.11:g.70435864T>C	ExAC,gnomAD
NODAL	Q96S42	p.Gly107Cys	COSM920012	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435858C>A	NCI-TCGA Cosmic
NODAL	Q96S42	p.Gly107Asp	rs1275535870	missense variant	-	NC_000010.11:g.70435857C>T	gnomAD
NODAL	Q96S42	p.Leu109Phe	rs776724504	missense variant	-	NC_000010.11:g.70435852G>A	ExAC,gnomAD
NODAL	Q96S42	p.Ile111Val	rs768992025	missense variant	-	NC_000010.11:g.70435846T>C	ExAC,gnomAD
NODAL	Q96S42	p.Ile113Thr	rs1362902193	missense variant	-	NC_000010.11:g.70435839A>G	gnomAD
NODAL	Q96S42	p.Phe114Ser	rs747322630	missense variant	-	NC_000010.11:g.70435836A>G	ExAC,gnomAD
NODAL	Q96S42	p.His115Tyr	rs775973023	missense variant	-	NC_000010.11:g.70435834G>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.His115Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435832G>C	NCI-TCGA
NODAL	Q96S42	p.Gln116His	rs1191284806	missense variant	-	NC_000010.11:g.70435829C>G	gnomAD
NODAL	Q96S42	p.Pro119Ser	rs140876376	missense variant	-	NC_000010.11:g.70435822G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro119Ala	rs140876376	missense variant	-	NC_000010.11:g.70435822G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro119His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435821G>T	NCI-TCGA
NODAL	Q96S42	p.Asp120Asn	rs756839201	missense variant	-	NC_000010.11:g.70435819C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Thr121Lys	rs748901621	missense variant	-	NC_000010.11:g.70435815G>T	ExAC,gnomAD
NODAL	Q96S42	p.Thr121Ser	rs1287933676	missense variant	-	NC_000010.11:g.70435816T>A	TOPMed,gnomAD
NODAL	Q96S42	p.Thr121Ala	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435816T>C	NCI-TCGA
NODAL	Q96S42	p.Glu122Gln	rs777283021	missense variant	-	NC_000010.11:g.70435813C>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Glu122Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435811C>A	NCI-TCGA
NODAL	Q96S42	p.Ala124Thr	COSM6130037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435807C>T	NCI-TCGA Cosmic
NODAL	Q96S42	p.Ser125Leu	rs755850269	missense variant	-	NC_000010.11:g.70435803G>A	ExAC,gnomAD
NODAL	Q96S42	p.Asp126Ala	rs1410825241	missense variant	-	NC_000010.11:g.70435800T>G	gnomAD
NODAL	Q96S42	p.Asp126Asn	rs767335219	missense variant	-	NC_000010.11:g.70435801C>T	ExAC,gnomAD
NODAL	Q96S42	p.Glu130Lys	rs1277783829	missense variant	-	NC_000010.11:g.70435789C>T	gnomAD
NODAL	Q96S42	p.Glu130Gly	rs1475197178	missense variant	-	NC_000010.11:g.70435788T>C	TOPMed
NODAL	Q96S42	p.Arg131Pro	rs751514518	missense variant	-	NC_000010.11:g.70435785C>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg131Trp	rs754863183	missense variant	-	NC_000010.11:g.70435786G>A	ExAC,gnomAD
NODAL	Q96S42	p.Arg131Gln	rs751514518	missense variant	-	NC_000010.11:g.70435785C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg131Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435786G>C	NCI-TCGA
NODAL	Q96S42	p.Gln133Ter	RCV000754879	nonsense	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435780G>A	ClinVar
NODAL	Q96S42	p.Gln133Ter	rs1447874899	stop gained	-	NC_000010.11:g.70435780G>A	gnomAD
NODAL	Q96S42	p.Met134Ile	COSM3440094	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435775C>T	NCI-TCGA Cosmic
NODAL	Q96S42	p.Asp135Gly	rs761797212	missense variant	-	NC_000010.11:g.70435773T>C	ExAC,gnomAD
NODAL	Q96S42	p.Leu136Val	rs1415658466	missense variant	-	NC_000010.11:g.70435771G>C	gnomAD
NODAL	Q96S42	p.Leu136Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435770A>C	NCI-TCGA
NODAL	Q96S42	p.Thr138Ser	rs776830054	missense variant	-	NC_000010.11:g.70435764G>C	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Thr138Ile	rs776830054	missense variant	-	NC_000010.11:g.70435764G>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Val139Ala	rs767390431	missense variant	-	NC_000010.11:g.70435761A>G	gnomAD
NODAL	Q96S42	p.Thr140Ala	rs1176353462	missense variant	-	NC_000010.11:g.70435759T>C	TOPMed
NODAL	Q96S42	p.Gln143Arg	rs1398227747	missense variant	-	NC_000010.11:g.70435749T>C	TOPMed
NODAL	Q96S42	p.Val144Phe	rs976302673	missense variant	-	NC_000010.11:g.70435747C>A	gnomAD
NODAL	Q96S42	p.Val144Ile	rs976302673	missense variant	-	NC_000010.11:g.70435747C>T	gnomAD
NODAL	Q96S42	p.Thr145Ile	rs760997424	missense variant	-	NC_000010.11:g.70435743G>A	ExAC,gnomAD
NODAL	Q96S42	p.Thr145Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435743G>T	NCI-TCGA
NODAL	Q96S42	p.Gly149Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435732C>T	NCI-TCGA
NODAL	Q96S42	p.Met151Ile	rs1316642787	missense variant	-	NC_000010.11:g.70435724C>T	TOPMed
NODAL	Q96S42	p.Val152Ile	rs966599321	missense variant	-	NC_000010.11:g.70435723C>T	TOPMed
NODAL	Q96S42	p.Leu153Phe	rs775957408	missense variant	-	NC_000010.11:g.70435718C>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg157Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435706C>A	NCI-TCGA
NODAL	Q96S42	p.Pro158Ser	rs1257541157	missense variant	-	NC_000010.11:g.70435705G>A	gnomAD
NODAL	Q96S42	p.Pro158Leu	rs772585502	missense variant	-	NC_000010.11:g.70435704G>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Leu159Pro	rs775000387	missense variant	-	NC_000010.11:g.70435701A>G	ExAC,gnomAD
NODAL	Q96S42	p.Trp162Ter	rs1310948587	stop gained	-	NC_000010.11:g.70435691C>T	gnomAD
NODAL	Q96S42	p.Lys164Asn	rs771630350	missense variant	-	NC_000010.11:g.70435685C>A	ExAC,gnomAD
NODAL	Q96S42	p.His165Arg	RCV000081930	missense variant	-	NC_000010.11:g.70435683T>C	ClinVar
NODAL	Q96S42	p.His165Arg	RCV000348733	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435683T>C	ClinVar
NODAL	Q96S42	p.His165Arg	rs1904589	missense variant	-	NC_000010.11:g.70435683T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.His165Tyr	rs538004915	missense variant	-	NC_000010.11:g.70435684G>A	1000Genomes,ExAC,gnomAD
NODAL	Q96S42	p.His165Arg	RCV000755328	missense variant	-	NC_000010.11:g.70435683T>C	ClinVar
NODAL	Q96S42	p.His165Arg	RCV000400701	missense variant	Heterotaxia	NC_000010.11:g.70435683T>C	ClinVar
NODAL	Q96S42	p.Pro166Arg	rs1445254502	missense variant	-	NC_000010.11:g.70435680G>C	gnomAD
NODAL	Q96S42	p.Pro166Ala	rs1203211297	missense variant	-	NC_000010.11:g.70435681G>C	TOPMed
NODAL	Q96S42	p.Gly167Glu	rs747861963	missense variant	-	NC_000010.11:g.70435677C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Gly167Arg	rs769295171	missense variant	-	NC_000010.11:g.70435678C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Leu169Pro	rs1465757447	missense variant	-	NC_000010.11:g.70435671A>G	TOPMed,gnomAD
NODAL	Q96S42	p.Leu169Arg	rs1465757447	missense variant	-	NC_000010.11:g.70435671A>C	TOPMed,gnomAD
NODAL	Q96S42	p.Glu170Val	COSM3985718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435668T>A	NCI-TCGA Cosmic
NODAL	Q96S42	p.Lys171Met	rs573873795	missense variant	-	NC_000010.11:g.70435665T>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Gln172Glu	RCV000396599	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435663G>C	ClinVar
NODAL	Q96S42	p.Gln172Glu	RCV000296040	missense variant	Heterotaxia	NC_000010.11:g.70435663G>C	ClinVar
NODAL	Q96S42	p.Gln172Glu	rs886047102	missense variant	-	NC_000010.11:g.70435663G>C	TOPMed
NODAL	Q96S42	p.Met173Thr	rs148812762	missense variant	-	NC_000010.11:g.70435659A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg175Gly	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435654T>C	NCI-TCGA
NODAL	Q96S42	p.Gly178Val	rs907057720	missense variant	-	NC_000010.11:g.70435644C>A	TOPMed
NODAL	Q96S42	p.Gly178Arg	rs779955350	missense variant	-	NC_000010.11:g.70435645C>T	ExAC,gnomAD
NODAL	Q96S42	p.Glu179Lys	rs1199359463	missense variant	-	NC_000010.11:g.70435642C>T	gnomAD
NODAL	Q96S42	p.Cys180Ser	rs1459201685	missense variant	-	NC_000010.11:g.70435638C>G	gnomAD
NODAL	Q96S42	p.Pro182Leu	rs143239895	missense variant	-	NC_000010.11:g.70435632G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro182Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435633G>A	NCI-TCGA
NODAL	Q96S42	p.Arg183Gln	rs104894169	missense variant	-	NC_000010.11:g.70435629C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg183Trp	rs201258671	missense variant	-	NC_000010.11:g.70435630G>A	1000Genomes,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg183Gln	rs104894169	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435629C>T	UniProt,dbSNP
NODAL	Q96S42	p.Arg183Gln	VAR_015111	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435629C>T	UniProt
NODAL	Q96S42	p.Arg183Gln	RCV000081931	missense variant	-	NC_000010.11:g.70435629C>T	ClinVar
NODAL	Q96S42	p.Pro184Ser	RCV000287823	missense variant	Heterotaxia	NC_000010.11:g.70435627G>A	ClinVar
NODAL	Q96S42	p.Pro184Ser	rs752979542	missense variant	-	NC_000010.11:g.70435627G>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro184Ser	RCV000345169	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435627G>A	ClinVar
NODAL	Q96S42	p.Thr186Ile	rs774912401	missense variant	-	NC_000010.11:g.70435620G>A	ExAC,gnomAD
NODAL	Q96S42	p.Pro187Thr	rs1398071682	missense variant	-	NC_000010.11:g.70435618G>T	gnomAD
NODAL	Q96S42	p.Pro187Leu	rs375466579	missense variant	-	NC_000010.11:g.70435617G>A	ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro187Ala	rs1398071682	missense variant	-	NC_000010.11:g.70435618G>C	gnomAD
NODAL	Q96S42	p.Thr190Asn	rs772552336	missense variant	-	NC_000010.11:g.70435608G>T	ExAC,gnomAD
NODAL	Q96S42	p.Thr190Ser	rs772552336	missense variant	-	NC_000010.11:g.70435608G>C	ExAC,gnomAD
NODAL	Q96S42	p.Asn191Asp	rs1260007780	missense variant	-	NC_000010.11:g.70435606T>C	TOPMed
NODAL	Q96S42	p.Asn191Ser	rs769362181	missense variant	-	NC_000010.11:g.70435605T>C	ExAC,gnomAD
NODAL	Q96S42	p.Leu193Phe	rs139880537	missense variant	-	NC_000010.11:g.70435600G>A	ESP,TOPMed
NODAL	Q96S42	p.Leu193Val	rs139880537	missense variant	-	NC_000010.11:g.70435600G>C	ESP,TOPMed
NODAL	Q96S42	p.Met195Thr	rs746784642	missense variant	-	NC_000010.11:g.70435593A>G	ExAC,gnomAD
NODAL	Q96S42	p.Leu196Phe	rs200445211	missense variant	-	NC_000010.11:g.70435591G>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Tyr197Ser	rs1209413173	missense variant	-	NC_000010.11:g.70435587T>G	gnomAD
NODAL	Q96S42	p.Ser198Tyr	RCV000376036	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435584G>T	ClinVar
NODAL	Q96S42	p.Ser198Tyr	RCV000284132	missense variant	Heterotaxia	NC_000010.11:g.70435584G>T	ClinVar
NODAL	Q96S42	p.Ser198Tyr	rs377663429	missense variant	-	NC_000010.11:g.70435584G>T	ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Leu200Phe	rs777654691	missense variant	-	NC_000010.11:g.70435579G>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Ser201Leu	rs934274234	missense variant	-	NC_000010.11:g.70435575G>A	TOPMed
NODAL	Q96S42	p.Glu203Lys	RCV000266528	missense variant	Heterotaxia	NC_000010.11:g.70435570C>T	ClinVar
NODAL	Q96S42	p.Glu203Lys	RCV000324034	missense variant	Holoprosencephaly sequence (HPE)	NC_000010.11:g.70435570C>T	ClinVar
NODAL	Q96S42	p.Glu203Lys	RCV000250863	missense variant	-	NC_000010.11:g.70435570C>T	ClinVar
NODAL	Q96S42	p.Glu203Lys	rs10999334	missense variant	-	NC_000010.11:g.70435570C>T	1000Genomes,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Gln204Arg	rs759882200	missense variant	-	NC_000010.11:g.70435566T>C	ExAC,gnomAD
NODAL	Q96S42	p.Arg205Trp	rs1160791133	missense variant	-	NC_000010.11:g.70435564T>A	TOPMed
NODAL	Q96S42	p.Gly208Ser	rs1363383604	missense variant	-	NC_000010.11:g.70435555C>T	TOPMed
NODAL	Q96S42	p.Gly208Asp	rs751938859	missense variant	-	NC_000010.11:g.70435554C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Ser210Ala	rs1298589601	missense variant	-	NC_000010.11:g.70435549A>C	gnomAD
NODAL	Q96S42	p.Leu212Trp	rs1385821725	missense variant	-	NC_000010.11:g.70435542A>C	gnomAD
NODAL	Q96S42	p.Trp214Arg	rs773777002	missense variant	-	NC_000010.11:g.70435537A>G	ExAC,gnomAD
NODAL	Q96S42	p.Trp214Arg	rs773777002	missense variant	-	NC_000010.11:g.70435537A>T	ExAC,gnomAD
NODAL	Q96S42	p.Trp214Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.70435535C>T	NCI-TCGA
NODAL	Q96S42	p.Glu215Lys	rs1417622898	missense variant	-	NC_000010.11:g.70435534C>T	gnomAD
NODAL	Q96S42	p.Glu217Lys	rs560734164	missense variant	-	NC_000010.11:g.70435528C>T	1000Genomes,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Ser218Ile	rs964173400	missense variant	-	NC_000010.11:g.70435524C>A	TOPMed,gnomAD
NODAL	Q96S42	p.Trp220Arg	rs776168916	missense variant	-	NC_000010.11:g.70435519A>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Trp220Arg	RCV000464032	missense variant	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435519A>G	ClinVar
NODAL	Q96S42	p.Arg221Trp	rs144444359	missense variant	-	NC_000010.11:g.70435516G>A	ESP,ExAC,gnomAD
NODAL	Q96S42	p.Arg221Gln	rs138681813	missense variant	-	NC_000010.11:g.70435515C>T	1000Genomes,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg221Gln	RCV000199745	missense variant	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435515C>T	ClinVar
NODAL	Q96S42	p.Ala222Asp	rs1269719287	missense variant	-	NC_000010.11:g.70435512G>T	gnomAD
NODAL	Q96S42	p.Gln223His	rs771912062	missense variant	-	NC_000010.11:g.70435508C>G	ExAC,gnomAD
NODAL	Q96S42	p.Glu224Asp	rs745724942	missense variant	-	NC_000010.11:g.70435505C>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Glu224Lys	rs1470460821	missense variant	-	NC_000010.11:g.70435507C>T	TOPMed,gnomAD
NODAL	Q96S42	p.Glu224Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435507C>G	NCI-TCGA
NODAL	Q96S42	p.Gly225Glu	rs778904934	missense variant	-	NC_000010.11:g.70435503C>T	ExAC,gnomAD
NODAL	Q96S42	p.Gly225Arg	RCV000687327	missense variant	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435504C>T	ClinVar
NODAL	Q96S42	p.Glu230Gly	rs1222026929	missense variant	-	NC_000010.11:g.70435488T>C	TOPMed
NODAL	Q96S42	p.Trp231Ter	rs748212376	stop gained	-	NC_000010.11:g.70435485C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Trp231Ser	rs748212376	missense variant	-	NC_000010.11:g.70435485C>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg234Ter	RCV000754877	frameshift	Visceral heterotaxy 5, autosomal (HTX5)	NC_000010.11:g.70435471_70435478del	ClinVar
NODAL	Q96S42	p.Arg236Cys	rs1194142220	missense variant	-	NC_000010.11:g.70435471G>A	TOPMed
NODAL	Q96S42	p.Arg236His	rs751847569	missense variant	-	NC_000010.11:g.70435470C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg237Gln	rs1180997172	missense variant	-	NC_000010.11:g.70435467C>T	TOPMed
NODAL	Q96S42	p.Arg237Ter	rs1438875687	stop gained	-	NC_000010.11:g.70435468G>A	TOPMed
NODAL	Q96S42	p.His238Tyr	rs758790389	missense variant	-	NC_000010.11:g.70435465G>A	ExAC,gnomAD
NODAL	Q96S42	p.His239Asp	rs1298590689	missense variant	-	NC_000010.11:g.70435462G>C	gnomAD
NODAL	Q96S42	p.Asp242Gly	rs1383794491	missense variant	-	NC_000010.11:g.70435452T>C	gnomAD
NODAL	Q96S42	p.Arg243Thr	COSM4832901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435449C>G	NCI-TCGA Cosmic
NODAL	Q96S42	p.Arg243Gly	rs750811947	missense variant	-	NC_000010.11:g.70435450T>C	ExAC
NODAL	Q96S42	p.Ser244Thr	rs765752596	missense variant	-	NC_000010.11:g.70435446C>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Ser244Asn	rs765752596	missense variant	-	NC_000010.11:g.70435446C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Leu246Val	rs1171996140	missense variant	-	NC_000010.11:g.70435441G>C	gnomAD
NODAL	Q96S42	p.Arg248Gly	rs1023858722	missense variant	-	NC_000010.11:g.70435435G>C	TOPMed,gnomAD
NODAL	Q96S42	p.Arg248Trp	rs1023858722	missense variant	-	NC_000010.11:g.70435435G>A	TOPMed,gnomAD
NODAL	Q96S42	p.Arg248Trp	RCV000482914	missense variant	-	NC_000010.11:g.70435435G>A	ClinVar
NODAL	Q96S42	p.Arg248Gln	rs762350525	missense variant	-	NC_000010.11:g.70435434C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Val254Leu	rs1460088890	missense variant	-	NC_000010.11:g.70435417C>A	TOPMed
NODAL	Q96S42	p.Phe256Cys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70435410A>C	NCI-TCGA
NODAL	Q96S42	p.Leu258Arg	rs1168732720	missense variant	-	NC_000010.11:g.70435404A>C	gnomAD
NODAL	Q96S42	p.Gly260Arg	RCV000622859	missense variant	Inborn genetic diseases	NC_000010.11:g.70435399C>T	ClinVar
NODAL	Q96S42	p.Gly260Arg	rs121909283	missense variant	-	NC_000010.11:g.70435399C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Gly260Arg	rs121909283	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435399C>T	UniProt,dbSNP
NODAL	Q96S42	p.Gly260Arg	VAR_062281	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435399C>T	UniProt
NODAL	Q96S42	p.Gly260Ter	rs121909283	stop gained	-	NC_000010.11:g.70435399C>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Gly260Arg	RCV000853249	missense variant	heterotaxia syndrome	NC_000010.11:g.70435399C>T	ClinVar
NODAL	Q96S42	p.Gly262Asp	rs760261207	missense variant	-	NC_000010.11:g.70435392C>T	ExAC,gnomAD
NODAL	Q96S42	p.Trp264Gly	rs1195795425	missense variant	-	NC_000010.11:g.70435387A>C	gnomAD
NODAL	Q96S42	p.Trp264Cys	COSM4852654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435385C>A	NCI-TCGA Cosmic
NODAL	Q96S42	p.Ile265Val	rs775212204	missense variant	-	NC_000010.11:g.70435384T>C	ExAC,gnomAD
NODAL	Q96S42	p.Ile265Leu	rs775212204	missense variant	-	NC_000010.11:g.70435384T>G	ExAC,gnomAD
NODAL	Q96S42	p.Ile266Thr	rs1256058819	missense variant	-	NC_000010.11:g.70435380A>G	gnomAD
NODAL	Q96S42	p.Pro268Ala	COSM685476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435375G>C	NCI-TCGA Cosmic
NODAL	Q96S42	p.Lys269Arg	rs1334528949	missense variant	-	NC_000010.11:g.70435371T>C	TOPMed
NODAL	Q96S42	p.Asn272Asp	rs1264497080	missense variant	-	NC_000010.11:g.70435363T>C	gnomAD
NODAL	Q96S42	p.Ala273Thr	rs770958126	missense variant	-	NC_000010.11:g.70435360C>T	ExAC,gnomAD
NODAL	Q96S42	p.Ala273Val	COSM3415213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70435359G>A	NCI-TCGA Cosmic
NODAL	Q96S42	p.Tyr274Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.70435355A>T	NCI-TCGA
NODAL	Q96S42	p.Arg275His	RCV000853256	missense variant	heterotaxia syndrome	NC_000010.11:g.70435353C>T	ClinVar
NODAL	Q96S42	p.Arg275His	rs555563029	missense variant	-	NC_000010.11:g.70435353C>T	TOPMed,gnomAD
NODAL	Q96S42	p.Arg275Cys	rs781366461	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435354G>A	UniProt,dbSNP
NODAL	Q96S42	p.Arg275Cys	VAR_062282	missense variant	Heterotaxy, visceral, 5, autosomal (HTX5)	NC_000010.11:g.70435354G>A	UniProt
NODAL	Q96S42	p.Arg275Cys	rs781366461	missense variant	-	NC_000010.11:g.70435354G>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg275His	RCV000485605	missense variant	-	NC_000010.11:g.70435353C>T	ClinVar
NODAL	Q96S42	p.Glu279Lys	rs755116310	missense variant	-	NC_000010.11:g.70435342C>T	UniProt,dbSNP
NODAL	Q96S42	p.Glu279Lys	VAR_036202	missense variant	-	NC_000010.11:g.70435342C>T	UniProt
NODAL	Q96S42	p.Glu279Lys	rs755116310	missense variant	-	NC_000010.11:g.70435342C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Glu279Ala	rs193203393	missense variant	-	NC_000010.11:g.70435341T>G	1000Genomes,ExAC
NODAL	Q96S42	p.Pro283Ala	rs375503197	missense variant	-	NC_000010.11:g.70435330G>C	ESP,ExAC,gnomAD
NODAL	Q96S42	p.Val284Phe	rs1310479365	missense variant	-	NC_000010.11:g.70435327C>A	gnomAD
NODAL	Q96S42	p.Val284Ala	rs758598737	missense variant	-	NC_000010.11:g.70435326A>G	ExAC,gnomAD
NODAL	Q96S42	p.Gly285Ala	rs1225397502	missense variant	-	NC_000010.11:g.70435323C>G	TOPMed
NODAL	Q96S42	p.Glu286Gln	rs1329399861	missense variant	-	NC_000010.11:g.70435321C>G	gnomAD
NODAL	Q96S42	p.Phe288Leu	rs150892417	missense variant	-	NC_000010.11:g.70435313A>C	ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro290Ser	rs370796035	missense variant	-	NC_000010.11:g.70435309G>A	ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro290Leu	rs757713122	missense variant	-	NC_000010.11:g.70435308G>A	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Thr291Ser	rs1287008085	missense variant	-	NC_000010.11:g.70435305G>C	TOPMed,gnomAD
NODAL	Q96S42	p.Tyr295His	rs1368298845	missense variant	-	NC_000010.11:g.70435294A>G	gnomAD
NODAL	Q96S42	p.Lys301Glu	rs756658835	missense variant	-	NC_000010.11:g.70433079T>C	ExAC,gnomAD
NODAL	Q96S42	p.Arg302Cys	RCV000723605	missense variant	-	NC_000010.11:g.70433076G>A	ClinVar
NODAL	Q96S42	p.Arg302His	rs750214155	missense variant	-	NC_000010.11:g.70433075C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg302Cys	rs150819707	missense variant	-	NC_000010.11:g.70433076G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Tyr303Cys	COSM1317435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.70433072T>C	NCI-TCGA Cosmic
NODAL	Q96S42	p.Pro305His	rs1486992639	missense variant	-	NC_000010.11:g.70433066G>T	TOPMed
NODAL	Q96S42	p.His306Tyr	rs148708629	missense variant	-	NC_000010.11:g.70433064G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Arg307Gly	rs949415691	missense variant	-	NC_000010.11:g.70433061G>C	TOPMed,gnomAD
NODAL	Q96S42	p.Arg307Ter	rs949415691	stop gained	-	NC_000010.11:g.70433061G>A	TOPMed,gnomAD
NODAL	Q96S42	p.Arg307Gln	rs766203379	missense variant	-	NC_000010.11:g.70433060C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Ser310Cys	rs1420869789	missense variant	-	NC_000010.11:g.70433051G>C	gnomAD
NODAL	Q96S42	p.Thr311Ile	rs773193349	missense variant	-	NC_000010.11:g.70433048G>A	ExAC,gnomAD
NODAL	Q96S42	p.Thr311Ser	rs773193349	missense variant	-	NC_000010.11:g.70433048G>C	ExAC,gnomAD
NODAL	Q96S42	p.Cys312Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70433046A>G	NCI-TCGA
NODAL	Q96S42	p.Ala314Thr	rs1465760855	missense variant	-	NC_000010.11:g.70433040C>T	TOPMed
NODAL	Q96S42	p.Ala314Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70433039G>A	NCI-TCGA
NODAL	Q96S42	p.Pro315Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70433036G>C	NCI-TCGA
NODAL	Q96S42	p.Lys319Gln	rs761688803	missense variant	-	NC_000010.11:g.70433025T>G	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro320Leu	rs147251818	missense variant	-	NC_000010.11:g.70433021G>A	ESP,ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Pro320Ala	rs1183423233	missense variant	-	NC_000010.11:g.70433022G>C	gnomAD
NODAL	Q96S42	p.Met323Thr	rs746033726	missense variant	-	NC_000010.11:g.70433012A>G	ExAC,gnomAD
NODAL	Q96S42	p.Tyr325His	rs1217545510	missense variant	-	NC_000010.11:g.70433007A>G	TOPMed,gnomAD
NODAL	Q96S42	p.Tyr325Ter	rs113255026	stop gained	-	NC_000010.11:g.70433005A>C	TOPMed
NODAL	Q96S42	p.Asp327Gly	rs1234594244	missense variant	-	NC_000010.11:g.70433000T>C	TOPMed
NODAL	Q96S42	p.Asp327Asn	rs771199897	missense variant	-	NC_000010.11:g.70433001C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Asn328Asp	rs1331335397	missense variant	-	NC_000010.11:g.70432998T>C	TOPMed,gnomAD
NODAL	Q96S42	p.Gly329Asp	rs749630247	missense variant	-	NC_000010.11:g.70432994C>T	ExAC,gnomAD
NODAL	Q96S42	p.Arg330Ser	rs1338850636	missense variant	-	NC_000010.11:g.70432990T>G	TOPMed,gnomAD
NODAL	Q96S42	p.Leu332Pro	rs756600339	missense variant	-	NC_000010.11:g.70432985A>G	ExAC,gnomAD
NODAL	Q96S42	p.Asp334Asn	rs748622757	missense variant	-	NC_000010.11:g.70432980C>T	ExAC,gnomAD
NODAL	Q96S42	p.Asp338His	rs200946243	missense variant	-	NC_000010.11:g.70432968C>G	ExAC,gnomAD
NODAL	Q96S42	p.Met339Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.70432963C>T	NCI-TCGA
NODAL	Q96S42	p.Val341Met	rs751176757	missense variant	-	NC_000010.11:g.70432959C>T	ExAC,TOPMed,gnomAD
NODAL	Q96S42	p.Glu343Ter	rs1242135129	stop gained	-	NC_000010.11:g.70432953C>A	TOPMed
NODAL	Q96S42	p.Leu347Phe	rs987421678	missense variant	-	NC_000010.11:g.70432941G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr2Ser	rs1310399913	missense variant	-	NC_000003.12:g.39146678G>C	TOPMed
CSRNP1	Q96S65	p.Leu4Val	rs1362797413	missense variant	-	NC_000003.12:g.39146673G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu5Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39146668C>A	NCI-TCGA
CSRNP1	Q96S65	p.Arg7Lys	rs763611186	missense variant	-	NC_000003.12:g.39146663C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Lys8Asn	rs760169100	missense variant	-	NC_000003.12:g.39146659T>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Phe9Ser	rs1292627402	missense variant	-	NC_000003.12:g.39146657A>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp10His	rs776047978	missense variant	-	NC_000003.12:g.39146655C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp10Tyr	COSM3408654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39146655C>A	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Gln11His	rs201798561	missense variant	-	NC_000003.12:g.39146650C>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp13Asn	rs1240023922	missense variant	-	NC_000003.12:g.39146646C>T	gnomAD
CSRNP1	Q96S65	p.Asp15Gly	rs1352163268	missense variant	-	NC_000003.12:g.39146639T>C	gnomAD
CSRNP1	Q96S65	p.Asp15Glu	rs1281121233	missense variant	-	NC_000003.12:g.39146638G>C	gnomAD
CSRNP1	Q96S65	p.Ser18Leu	rs759995863	missense variant	-	NC_000003.12:g.39146630G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser18Leu	rs759995863	missense variant	-	NC_000003.12:g.39146630G>A	NCI-TCGA
CSRNP1	Q96S65	p.Val19Ile	rs375017149	missense variant	-	NC_000003.12:g.39146628C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser21Phe	rs771288688	missense variant	-	NC_000003.12:g.39146621G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser21Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39146622A>G	NCI-TCGA
CSRNP1	Q96S65	p.Ser22Phe	rs773553421	missense variant	-	NC_000003.12:g.39146618G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser22Tyr	rs773553421	missense variant	-	NC_000003.12:g.39146618G>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser23Cys	rs1191533266	missense variant	-	NC_000003.12:g.39146615G>C	TOPMed
CSRNP1	Q96S65	p.Ser25Tyr	rs368541138	missense variant	-	NC_000003.12:g.39146609G>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser25Phe	rs368541138	missense variant	-	NC_000003.12:g.39146609G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser26Tyr	rs1261115358	missense variant	-	NC_000003.12:g.39146606G>T	gnomAD
CSRNP1	Q96S65	p.Ser26Thr	rs1445419888	missense variant	-	NC_000003.12:g.39146607A>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly27Arg	rs1291091908	missense variant	-	NC_000003.12:g.39146604C>T	gnomAD
CSRNP1	Q96S65	p.Arg31His	rs142952358	missense variant	-	NC_000003.12:g.39146591C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg31Cys	rs144818359	missense variant	-	NC_000003.12:g.39146592G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg31His	rs142952358	missense variant	-	NC_000003.12:g.39146591C>T	NCI-TCGA
CSRNP1	Q96S65	p.Arg31Pro	rs142952358	missense variant	-	NC_000003.12:g.39146591C>G	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Arg31Pro	rs142952358	missense variant	-	NC_000003.12:g.39146591C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser32Phe	rs889733119	missense variant	-	NC_000003.12:g.39146588G>A	TOPMed
CSRNP1	Q96S65	p.Ser34Phe	rs1027304792	missense variant	-	NC_000003.12:g.39146582G>A	gnomAD
CSRNP1	Q96S65	p.Ser36Asn	rs1013491466	missense variant	-	NC_000003.12:g.39146576C>T	TOPMed
CSRNP1	Q96S65	p.Arg41His	rs370236918	missense variant	-	NC_000003.12:g.39146561C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg41Cys	rs150285879	missense variant	-	NC_000003.12:g.39146562G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg41His	rs370236918	missense variant	-	NC_000003.12:g.39146561C>T	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Ala42Thr	rs1318370973	missense variant	-	NC_000003.12:g.39146559C>T	gnomAD
CSRNP1	Q96S65	p.Glu46Lys	rs1403380381	missense variant	-	NC_000003.12:g.39146547C>T	gnomAD
CSRNP1	Q96S65	p.Pro50Leu	rs1335155149	missense variant	-	NC_000003.12:g.39146534G>A	gnomAD
CSRNP1	Q96S65	p.Pro50Arg	rs1335155149	missense variant	-	NC_000003.12:g.39146534G>C	gnomAD
CSRNP1	Q96S65	p.Asp52Val	rs376945104	missense variant	-	NC_000003.12:g.39146528T>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro55Ser	rs1426308440	missense variant	-	NC_000003.12:g.39146520G>A	gnomAD
CSRNP1	Q96S65	p.Leu56Met	rs140082006	missense variant	-	NC_000003.12:g.39146517G>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro57Leu	rs1372622205	missense variant	-	NC_000003.12:g.39146513G>A	gnomAD
CSRNP1	Q96S65	p.Arg59His	rs1241462641	missense variant	-	NC_000003.12:g.39146507C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg59Cys	rs543815580	missense variant	-	NC_000003.12:g.39146508G>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly63Arg	rs766868456	missense variant	-	NC_000003.12:g.39146496C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly63Ser	rs766868456	missense variant	-	NC_000003.12:g.39146496C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro64His	rs1393966154	missense variant	-	NC_000003.12:g.39146492G>T	gnomAD
CSRNP1	Q96S65	p.Ser66Asn	rs1280440413	missense variant	-	NC_000003.12:g.39146486C>T	gnomAD
CSRNP1	Q96S65	p.Phe67Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39146483A>C	NCI-TCGA
CSRNP1	Q96S65	p.Thr68Ala	rs1163075596	missense variant	-	NC_000003.12:g.39146481T>C	gnomAD
CSRNP1	Q96S65	p.Thr68Ser	rs1212772457	missense variant	-	NC_000003.12:g.39146480G>C	gnomAD
CSRNP1	Q96S65	p.Pro69Leu	rs778900757	missense variant	-	NC_000003.12:g.39145256G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro69Ser	rs767566574	missense variant	-	NC_000003.12:g.39146478G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu70Val	rs1318238038	missense variant	-	NC_000003.12:g.39145254G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile72Val	rs751584024	missense variant	-	NC_000003.12:g.39145248T>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Lys74Arg	rs1309227373	missense variant	-	NC_000003.12:g.39145241T>C	gnomAD
CSRNP1	Q96S65	p.Arg75Gly	rs1432142196	missense variant	-	NC_000003.12:g.39145239G>C	gnomAD
CSRNP1	Q96S65	p.Arg75Gln	rs186954725	missense variant	-	NC_000003.12:g.39145238C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg77Leu	rs780574067	missense variant	-	NC_000003.12:g.39145232C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg77His	rs780574067	missense variant	-	NC_000003.12:g.39145232C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg77Cys	rs755787292	missense variant	-	NC_000003.12:g.39145233G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg77Ser	COSM1044475	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39145233G>T	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Arg78Gln	rs766961372	missense variant	-	NC_000003.12:g.39145229C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg78Trp	rs752072229	missense variant	-	NC_000003.12:g.39145230G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg78Pro	rs766961372	missense variant	-	NC_000003.12:g.39145229C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg80Cys	rs967086569	missense variant	-	NC_000003.12:g.39145224G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg80His	rs375727374	missense variant	-	NC_000003.12:g.39145223C>T	ESP,ExAC,gnomAD
CSRNP1	Q96S65	p.Arg80Cys	rs967086569	missense variant	-	NC_000003.12:g.39145224G>A	NCI-TCGA
CSRNP1	Q96S65	p.Gly82Val	COSM4117462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39145217C>A	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Arg83Cys	rs768679810	missense variant	-	NC_000003.12:g.39145215G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg83Gly	rs768679810	missense variant	-	NC_000003.12:g.39145215G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg83His	rs760808464	missense variant	-	NC_000003.12:g.39145214C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala85Asp	rs1222834980	missense variant	-	NC_000003.12:g.39145208G>T	gnomAD
CSRNP1	Q96S65	p.Phe86Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39145206A>G	NCI-TCGA
CSRNP1	Q96S65	p.Asp87Gly	rs1350464448	missense variant	-	NC_000003.12:g.39145202T>C	gnomAD
CSRNP1	Q96S65	p.Gly88Arg	rs1449267702	missense variant	-	NC_000003.12:g.39145200C>T	gnomAD
CSRNP1	Q96S65	p.Thr90Ile	rs372871421	missense variant	-	NC_000003.12:g.39145193G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val91Ile	rs777576620	missense variant	-	NC_000003.12:g.39145191C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Phe92Ile	rs1302643910	missense variant	-	NC_000003.12:g.39145188A>T	gnomAD
CSRNP1	Q96S65	p.Arg96Cys	rs1157272245	missense variant	-	NC_000003.12:g.39145176G>A	gnomAD
CSRNP1	Q96S65	p.Arg96His	rs747810918	missense variant	-	NC_000003.12:g.39145175C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg96AlaPheSerTerUnkUnk	COSM1422918	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.39145176G>-	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Cys97Trp	rs780891431	missense variant	-	NC_000003.12:g.39145171G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Thr101Ile	rs1379248858	missense variant	-	NC_000003.12:g.39145160G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Val103Met	rs746506026	missense variant	-	NC_000003.12:g.39145155C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg106His	rs79896317	missense variant	-	NC_000003.12:g.39145145C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg106Leu	rs79896317	missense variant	-	NC_000003.12:g.39145145C>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg106Cys	rs201668977	missense variant	-	NC_000003.12:g.39145146G>A	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Gly107Ser	rs1368598720	missense variant	-	NC_000003.12:g.39145143C>T	TOPMed
CSRNP1	Q96S65	p.Gly108Asp	COSM1044473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39145139C>T	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Cys109Trp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39145135A>C	NCI-TCGA
CSRNP1	Q96S65	p.Gly112Asp	rs907174619	missense variant	-	NC_000003.12:g.39145127C>T	TOPMed
CSRNP1	Q96S65	p.Arg116His	rs757630647	missense variant	-	NC_000003.12:g.39145115C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg116His	rs757630647	missense variant	-	NC_000003.12:g.39145115C>T	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Arg116Cys	rs145870952	missense variant	-	NC_000003.12:g.39145116G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser118Asn	rs1465033986	missense variant	-	NC_000003.12:g.39145109C>T	gnomAD
CSRNP1	Q96S65	p.Ala119Gly	rs1269182910	missense variant	-	NC_000003.12:g.39145106G>C	gnomAD
CSRNP1	Q96S65	p.Ala119Val	rs1269182910	missense variant	-	NC_000003.12:g.39145106G>A	gnomAD
CSRNP1	Q96S65	p.Arg121Cys	rs369362214	missense variant	-	NC_000003.12:g.39145101G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg121Leu	rs760720188	missense variant	-	NC_000003.12:g.39145100C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg121His	rs760720188	missense variant	-	NC_000003.12:g.39145100C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg122Cys	rs372028126	missense variant	-	NC_000003.12:g.39145098G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg122Ser	rs372028126	missense variant	-	NC_000003.12:g.39145098G>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg122His	rs200798768	missense variant	-	NC_000003.12:g.39145097C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg122His	rs200798768	missense variant	-	NC_000003.12:g.39145097C>T	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Leu125Trp	rs762883711	missense variant	-	NC_000003.12:g.39145088A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu127Asp	rs1430319021	missense variant	-	NC_000003.12:g.39145081C>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu127Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39145081C>G	NCI-TCGA
CSRNP1	Q96S65	p.Phe128Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39145080A>G	NCI-TCGA
CSRNP1	Q96S65	p.Ala129Glu	rs866090111	missense variant	-	NC_000003.12:g.39145076G>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala129Val	rs866090111	missense variant	-	NC_000003.12:g.39145076G>A	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Ala129Val	rs866090111	missense variant	-	NC_000003.12:g.39145076G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gln130Arg	rs776192489	missense variant	-	NC_000003.12:g.39145073T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Gln130Lys	rs769542490	missense variant	-	NC_000003.12:g.39145074G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gln130Leu	rs776192489	missense variant	-	NC_000003.12:g.39145073T>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu131Asp	rs1428334987	missense variant	-	NC_000003.12:g.39145069C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala133Val	rs768372949	missense variant	-	NC_000003.12:g.39145064G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg134His	rs757921966	missense variant	-	NC_000003.12:g.39145061C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg134Cys	rs779714471	missense variant	-	NC_000003.12:g.39145062G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg136Gln	rs149009984	missense variant	-	NC_000003.12:g.39145055C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Arg136Trp	rs746438028	missense variant	-	NC_000003.12:g.39145056G>A	NCI-TCGA
CSRNP1	Q96S65	p.Arg136Trp	rs746438028	missense variant	-	NC_000003.12:g.39145056G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg136Gln	rs149009984	missense variant	-	NC_000003.12:g.39145055C>T	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Glu138Lys	rs372648220	missense variant	-	NC_000003.12:g.39145050C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Lys139Gln	rs562210829	missense variant	-	NC_000003.12:g.39145047T>G	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Arg141His	rs139691127	missense variant	-	NC_000003.12:g.39145040C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg141Cys	rs374212431	missense variant	-	NC_000003.12:g.39145041G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg141His	rs139691127	missense variant	-	NC_000003.12:g.39145040C>T	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Arg143His	rs145992009	missense variant	-	NC_000003.12:g.39145034C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg143Cys	rs150622788	missense variant	-	NC_000003.12:g.39145035G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu147Gln	rs138067710	missense variant	-	NC_000003.12:g.39145023C>G	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu147Asp	rs1303168616	missense variant	-	NC_000003.12:g.39145021C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu147Asp	COSM1044467	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39145021C>A	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Lys148Glu	rs776520739	missense variant	-	NC_000003.12:g.39145020T>C	ExAC
CSRNP1	Q96S65	p.Met151Thr	rs768268943	missense variant	-	NC_000003.12:g.39145010A>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Met151Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39145011T>A	NCI-TCGA
CSRNP1	Q96S65	p.Leu152Pro	rs1227253392	missense variant	-	NC_000003.12:g.39145007A>G	TOPMed
CSRNP1	Q96S65	p.Ser157Trp	rs781483967	missense variant	-	NC_000003.12:g.39144447G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser157Leu	rs781483967	missense variant	-	NC_000003.12:g.39144447G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala159Val	rs780194452	missense variant	-	NC_000003.12:g.39144441G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala159Ser	rs112352444	missense variant	-	NC_000003.12:g.39144442C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala159Gly	rs780194452	missense variant	-	NC_000003.12:g.39144441G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly160Ala	rs1314960923	missense variant	-	NC_000003.12:g.39144438C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly160Glu	rs1314960923	missense variant	-	NC_000003.12:g.39144438C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Val161Gly	rs758393111	missense variant	-	NC_000003.12:g.39144435A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Val161Leu	rs1287453540	missense variant	-	NC_000003.12:g.39144436C>A	gnomAD
CSRNP1	Q96S65	p.Glu165Gly	rs1352204708	missense variant	-	NC_000003.12:g.39144423T>C	gnomAD
CSRNP1	Q96S65	p.Leu168Pro	rs890879591	missense variant	-	NC_000003.12:g.39144414A>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu168Arg	rs890879591	missense variant	-	NC_000003.12:g.39144414A>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro169Ser	rs753878701	missense variant	-	NC_000003.12:g.39144412G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro169Leu	rs1164695859	missense variant	-	NC_000003.12:g.39144411G>A	gnomAD
CSRNP1	Q96S65	p.Pro170His	rs1310984541	missense variant	-	NC_000003.12:g.39144408G>T	TOPMed
CSRNP1	Q96S65	p.Pro170Thr	rs145888015	missense variant	-	NC_000003.12:g.39144409G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val171Gly	rs1212066771	missense variant	-	NC_000003.12:g.39144405A>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Val171Met	rs531666797	missense variant	-	NC_000003.12:g.39144406C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Ala174Thr	rs1158821849	missense variant	-	NC_000003.12:g.39144397C>T	gnomAD
CSRNP1	Q96S65	p.Ala174Val	rs1473211129	missense variant	-	NC_000003.12:g.39144396G>A	gnomAD
CSRNP1	Q96S65	p.Ile175Val	rs1414744505	missense variant	-	NC_000003.12:g.39144394T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp177Asn	rs752562774	missense variant	-	NC_000003.12:g.39144388C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala178Asp	rs765975625	missense variant	-	NC_000003.12:g.39144384G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala178Val	rs765975625	missense variant	-	NC_000003.12:g.39144384G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala178Thr	rs759270599	missense variant	-	NC_000003.12:g.39144385C>T	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Ala178Thr	rs759270599	missense variant	-	NC_000003.12:g.39144385C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser179Tyr	rs762367732	missense variant	-	NC_000003.12:g.39144381G>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Val180Met	rs773816035	missense variant	-	NC_000003.12:g.39144379C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu182Val	rs1331141908	missense variant	-	NC_000003.12:g.39144372T>A	gnomAD
CSRNP1	Q96S65	p.Glu182Lys	rs1228721603	missense variant	-	NC_000003.12:g.39144373C>T	gnomAD
CSRNP1	Q96S65	p.Ala185Glu	rs1331233254	missense variant	-	NC_000003.12:g.39144363G>T	gnomAD
CSRNP1	Q96S65	p.Val186Ile	rs927189569	missense variant	-	NC_000003.12:g.39144361C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala187Thr	rs776980215	missense variant	-	NC_000003.12:g.39144358C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala187Ser	rs776980215	missense variant	-	NC_000003.12:g.39144358C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val188Leu	rs768950919	missense variant	-	NC_000003.12:g.39144355C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly190Asp	rs749571779	missense variant	-	NC_000003.12:g.39144348C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly191Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39144346C>T	NCI-TCGA
CSRNP1	Q96S65	p.Arg192Trp	rs745915113	missense variant	-	NC_000003.12:g.39144343G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg192Gln	rs532218961	missense variant	-	NC_000003.12:g.39144342C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg192Gln	rs532218961	missense variant	-	NC_000003.12:g.39144342C>T	NCI-TCGA
CSRNP1	Q96S65	p.Leu193Ter	rs754810673	stop gained	-	NC_000003.12:g.39144339A>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Leu193Trp	rs754810673	missense variant	-	NC_000003.12:g.39144339A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Leu193Val	rs752619572	missense variant	-	NC_000003.12:g.39144340A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu194Lys	rs751294413	missense variant	-	NC_000003.12:g.39144337C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu195Lys	rs765922302	missense variant	-	NC_000003.12:g.39144334C>T	ExAC
CSRNP1	Q96S65	p.Glu195Lys	rs765922302	missense variant	-	NC_000003.12:g.39144334C>T	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Val196Gly	rs941546443	missense variant	-	NC_000003.12:g.39144330A>C	gnomAD
CSRNP1	Q96S65	p.Val196Leu	rs560006152	missense variant	-	NC_000003.12:g.39144331C>A	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Ser197AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.39144329C>-	NCI-TCGA
CSRNP1	Q96S65	p.Leu199Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39144321A>G	NCI-TCGA
CSRNP1	Q96S65	p.Gln200Glu	rs910032303	missense variant	-	NC_000003.12:g.39144319G>C	gnomAD
CSRNP1	Q96S65	p.Pro201Ser	rs1363819613	missense variant	-	NC_000003.12:g.39144316G>A	gnomAD
CSRNP1	Q96S65	p.Tyr202Phe	rs777108852	missense variant	-	NC_000003.12:g.39144312T>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Tyr202His	rs1408345052	missense variant	-	NC_000003.12:g.39144313A>G	TOPMed
CSRNP1	Q96S65	p.Pro203Leu	rs540112925	missense variant	-	NC_000003.12:g.39144309G>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro203Ser	rs1436798077	missense variant	-	NC_000003.12:g.39144310G>A	gnomAD
CSRNP1	Q96S65	p.Ala204Thr	rs1332562517	missense variant	-	NC_000003.12:g.39144307C>T	gnomAD
CSRNP1	Q96S65	p.Arg205Gln	rs775832050	missense variant	-	NC_000003.12:g.39144303C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg205Trp	rs375176179	missense variant	-	NC_000003.12:g.39144304G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg206Gln	rs746064037	missense variant	-	NC_000003.12:g.39144300C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg206Ter	rs1427983004	stop gained	-	NC_000003.12:g.39144301G>A	gnomAD
CSRNP1	Q96S65	p.Arg206Ter	rs1427983004	stop gained	-	NC_000003.12:g.39144301G>A	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Arg207Cys	rs779138699	missense variant	-	NC_000003.12:g.39144298G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg207His	rs1314435386	missense variant	-	NC_000003.12:g.39144297C>T	TOPMed
CSRNP1	Q96S65	p.Arg208Gln	rs757359136	missense variant	-	NC_000003.12:g.39144294C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg208Ter	rs1451528917	stop gained	-	NC_000003.12:g.39144295G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg208Gln	rs757359136	missense variant	-	NC_000003.12:g.39144294C>T	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Ala209Thr	rs574676260	missense variant	-	NC_000003.12:g.39144292C>T	1000Genomes,gnomAD
CSRNP1	Q96S65	p.Leu210Arg	rs1442935032	missense variant	-	NC_000003.12:g.39144288A>C	gnomAD
CSRNP1	Q96S65	p.Leu211Met	rs1280730335	missense variant	-	NC_000003.12:g.39144286G>T	gnomAD
CSRNP1	Q96S65	p.Ala213Thr	rs748157430	missense variant	-	NC_000003.12:g.39144280C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly215Asp	rs754844331	missense variant	-	NC_000003.12:g.39144273C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg217Gly	rs1230198888	missense variant	-	NC_000003.12:g.39144268G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg217Gln	rs1380059383	missense variant	-	NC_000003.12:g.39144267C>T	gnomAD
CSRNP1	Q96S65	p.Arg217Ter	rs1230198888	stop gained	-	NC_000003.12:g.39144268G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg217Ter	rs1230198888	stop gained	-	NC_000003.12:g.39144268G>A	NCI-TCGA
CSRNP1	Q96S65	p.Arg218Ser	rs751331439	missense variant	-	NC_000003.12:g.39144263C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg218Lys	rs1282804841	missense variant	-	NC_000003.12:g.39144264C>T	gnomAD
CSRNP1	Q96S65	p.Asp220Asn	rs750030169	missense variant	-	NC_000003.12:g.39144259C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp220His	rs750030169	missense variant	-	NC_000003.12:g.39144259C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp220Gly	rs1212248365	missense variant	-	NC_000003.12:g.39144258T>C	TOPMed
CSRNP1	Q96S65	p.Asp220Glu	rs764784548	missense variant	-	NC_000003.12:g.39144257A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp220Tyr	rs750030169	missense variant	-	NC_000003.12:g.39144259C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg221Pro	rs200920696	missense variant	-	NC_000003.12:g.39144255C>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg221Gln	rs200920696	missense variant	-	NC_000003.12:g.39144255C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg221Trp	rs200194534	missense variant	-	NC_000003.12:g.39144256G>A	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Arg221Leu	rs200920696	missense variant	-	NC_000003.12:g.39144255C>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu223Asp	rs1431890424	missense variant	-	NC_000003.12:g.39144248C>G	gnomAD
CSRNP1	Q96S65	p.Arg225Trp	rs142034027	missense variant	-	NC_000003.12:g.39144244G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg225Gln	rs757183769	missense variant	-	NC_000003.12:g.39144243C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gln228Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39144234T>C	NCI-TCGA
CSRNP1	Q96S65	p.Ala229Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39144231G>C	NCI-TCGA
CSRNP1	Q96S65	p.Leu230Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39144229G>C	NCI-TCGA
CSRNP1	Q96S65	p.Arg231Cys	rs377641112	missense variant	-	NC_000003.12:g.39144226G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg231Cys	rs377641112	missense variant	-	NC_000003.12:g.39144226G>A	NCI-TCGA,NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Ser233Tyr	rs371362611	missense variant	-	NC_000003.12:g.39144219G>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg234Trp	rs376235916	missense variant	-	NC_000003.12:g.39144217G>A	ESP,ExAC,gnomAD
CSRNP1	Q96S65	p.Glu235Asp	rs768505796	missense variant	-	NC_000003.12:g.39144212C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp236Asn	rs1408574666	missense variant	-	NC_000003.12:g.39144211C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp236His	rs1408574666	missense variant	-	NC_000003.12:g.39144211C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Cys239Gly	rs779723581	missense variant	-	NC_000003.12:g.39144202A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.His240Tyr	rs1411814018	missense variant	-	NC_000003.12:g.39144199G>A	gnomAD
CSRNP1	Q96S65	p.Asp242Gly	rs778503664	missense variant	-	NC_000003.12:g.39144192T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp242Asn	rs558716018	missense variant	-	NC_000003.12:g.39144193C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Asp246His	rs1472231987	missense variant	-	NC_000003.12:g.39144181C>G	gnomAD
CSRNP1	Q96S65	p.Asp246Asn	rs1472231987	missense variant	-	NC_000003.12:g.39144181C>T	gnomAD
CSRNP1	Q96S65	p.Pro247Ser	rs763622961	missense variant	-	NC_000003.12:g.39144178G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu248Asp	rs753190970	missense variant	-	NC_000003.12:g.39144173C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu248Ala	rs1245604657	missense variant	-	NC_000003.12:g.39144174T>G	gnomAD
CSRNP1	Q96S65	p.Cys250Gly	rs1452936894	missense variant	-	NC_000003.12:g.39144169A>C	gnomAD
CSRNP1	Q96S65	p.Cys250Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39144169A>G	NCI-TCGA
CSRNP1	Q96S65	p.Ile257Leu	rs1226886034	missense variant	-	NC_000003.12:g.39144148T>G	gnomAD
CSRNP1	Q96S65	p.Lys258Arg	rs1289587036	missense variant	-	NC_000003.12:g.39144144T>C	gnomAD
CSRNP1	Q96S65	p.Lys258Glu	rs113251235	missense variant	-	NC_000003.12:g.39144145T>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.His263Gln	rs1353304300	missense variant	-	NC_000003.12:g.39144036G>C	gnomAD
CSRNP1	Q96S65	p.Thr264Ile	rs375810664	missense variant	-	NC_000003.12:g.39144034G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala265Thr	COSM280186	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39144032C>T	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Pro267Thr	rs1434620743	missense variant	-	NC_000003.12:g.39144026G>T	gnomAD
CSRNP1	Q96S65	p.Pro267His	rs768039738	missense variant	-	NC_000003.12:g.39144025G>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg272Lys	rs868504201	missense variant	-	NC_000003.12:g.39144010C>T	gnomAD
CSRNP1	Q96S65	p.Gly274Asp	rs1358451625	missense variant	-	NC_000003.12:g.39144004C>T	gnomAD
CSRNP1	Q96S65	p.Glu276Gln	rs1400526552	missense variant	-	NC_000003.12:g.39143999C>G	gnomAD
CSRNP1	Q96S65	p.Pro278Ser	rs752000496	missense variant	-	NC_000003.12:g.39143993G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Met279Thr	rs1045645967	missense variant	-	NC_000003.12:g.39143989A>G	TOPMed
CSRNP1	Q96S65	p.Gly280Asp	rs949881028	missense variant	-	NC_000003.12:g.39143986C>T	TOPMed
CSRNP1	Q96S65	p.Arg281His	rs188709083	missense variant	-	NC_000003.12:g.39143983C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg281Cys	rs1421409940	missense variant	-	NC_000003.12:g.39143984G>A	TOPMed
CSRNP1	Q96S65	p.Phe284Val	rs1324132635	missense variant	-	NC_000003.12:g.39143975A>C	TOPMed
CSRNP1	Q96S65	p.Phe284Val	rs1324132635	missense variant	-	NC_000003.12:g.39143975A>C	NCI-TCGA
CSRNP1	Q96S65	p.Phe284Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143974A>C	NCI-TCGA
CSRNP1	Q96S65	p.Asn285Ser	rs1394092813	missense variant	-	NC_000003.12:g.39143971T>C	TOPMed
CSRNP1	Q96S65	p.Val289Ile	rs1441697885	missense variant	-	NC_000003.12:g.39143960C>T	TOPMed
CSRNP1	Q96S65	p.Thr291Ala	rs773551314	missense variant	-	NC_000003.12:g.39143954T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Thr291Ser	rs773551314	missense variant	-	NC_000003.12:g.39143954T>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ile294Phe	rs1325154765	missense variant	-	NC_000003.12:g.39143945T>A	TOPMed
CSRNP1	Q96S65	p.Leu297Phe	rs758292915	missense variant	-	NC_000003.12:g.39143936G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr298Ser	rs151312697	missense variant	-	NC_000003.12:g.39143933T>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr298Ala	rs151312697	missense variant	-	NC_000003.12:g.39143933T>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg299Cys	rs978846651	missense variant	-	NC_000003.12:g.39143930G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg299Ser	rs978846651	missense variant	-	NC_000003.12:g.39143930G>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg299His	rs745767055	missense variant	-	NC_000003.12:g.39143929C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg299Cys	rs978846651	missense variant	-	NC_000003.12:g.39143930G>A	NCI-TCGA
CSRNP1	Q96S65	p.Gln301His	rs777481412	missense variant	-	NC_000003.12:g.39143922C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Gln301Pro	rs184024059	missense variant	-	NC_000003.12:g.39143923T>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gln301His	rs777481412	missense variant	-	NC_000003.12:g.39143922C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Leu302Ser	rs145163556	missense variant	-	NC_000003.12:g.39143920A>G	ESP,ExAC,TOPMed
CSRNP1	Q96S65	p.Glu303Gln	rs1394006588	missense variant	-	NC_000003.12:g.39143918C>G	gnomAD
CSRNP1	Q96S65	p.Gln304Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143914T>G	NCI-TCGA
CSRNP1	Q96S65	p.Glu307Ala	rs1450104863	missense variant	-	NC_000003.12:g.39143905T>G	gnomAD
CSRNP1	Q96S65	p.Glu307Lys	rs747675173	missense variant	-	NC_000003.12:g.39143906C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser308Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143902C>A	NCI-TCGA
CSRNP1	Q96S65	p.Leu312Val	rs1167375268	missense variant	-	NC_000003.12:g.39143891G>C	gnomAD
CSRNP1	Q96S65	p.Glu313Lys	COSM3593796	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143888C>T	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Ala314Ser	rs1430007644	missense variant	-	NC_000003.12:g.39143885C>A	gnomAD
CSRNP1	Q96S65	p.Pro315Leu	rs1391573588	missense variant	-	NC_000003.12:g.39143881G>A	gnomAD
CSRNP1	Q96S65	p.Ala316Val	rs780522832	missense variant	-	NC_000003.12:g.39143878G>A	ExAC,TOPMed
CSRNP1	Q96S65	p.Ala316Gly	rs780522832	missense variant	-	NC_000003.12:g.39143878G>C	ExAC,TOPMed
CSRNP1	Q96S65	p.Gln317Glu	rs1474093338	missense variant	-	NC_000003.12:g.39143876G>C	TOPMed
CSRNP1	Q96S65	p.Gly318Asp	rs1164008450	missense variant	-	NC_000003.12:g.39143872C>T	TOPMed
CSRNP1	Q96S65	p.Pro323Ser	rs200100332	missense variant	-	NC_000003.12:g.39143858G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro323Leu	rs367688111	missense variant	-	NC_000003.12:g.39143857G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala327Val	rs1204437952	missense variant	-	NC_000003.12:g.39143845G>A	gnomAD
CSRNP1	Q96S65	p.Pro330Leu	rs1253356223	missense variant	-	NC_000003.12:g.39143836G>A	gnomAD
CSRNP1	Q96S65	p.Leu334Val	rs750650484	missense variant	-	NC_000003.12:g.39143825G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala335Val	rs1235095342	missense variant	-	NC_000003.12:g.39143821G>A	gnomAD
CSRNP1	Q96S65	p.Ala335Thr	rs761889545	missense variant	-	NC_000003.12:g.39143822C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Lys336Asn	rs776803093	missense variant	-	NC_000003.12:g.39143817C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro337His	rs199874965	missense variant	-	NC_000003.12:g.39143815G>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Met339Thr	rs987660939	missense variant	-	NC_000003.12:g.39143809A>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Met339Val	rs1319552416	missense variant	-	NC_000003.12:g.39143810T>C	TOPMed
CSRNP1	Q96S65	p.Met339HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.39143810_39143811insG	NCI-TCGA
CSRNP1	Q96S65	p.Asn341Asp	rs1413291097	missense variant	-	NC_000003.12:g.39143804T>C	TOPMed
CSRNP1	Q96S65	p.Asn341Ser	rs759484714	missense variant	-	NC_000003.12:g.39143803T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly344Arg	rs1457075773	missense variant	-	NC_000003.12:g.39143795C>T	gnomAD
CSRNP1	Q96S65	p.Asp345Val	rs1368273847	missense variant	-	NC_000003.12:g.39143791T>A	gnomAD
CSRNP1	Q96S65	p.Asp345Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143792C>A	NCI-TCGA
CSRNP1	Q96S65	p.Cys348Trp	rs1021153305	missense variant	-	NC_000003.12:g.39143781G>C	TOPMed
CSRNP1	Q96S65	p.Asp351Asn	rs892928786	missense variant	-	NC_000003.12:g.39143774C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp351Val	rs1483448555	missense variant	-	NC_000003.12:g.39143773T>A	gnomAD
CSRNP1	Q96S65	p.Met352Val	rs772791468	missense variant	-	NC_000003.12:g.39143771T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Met352Lys	rs769511465	missense variant	-	NC_000003.12:g.39143770A>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser355Phe	rs1265818015	missense variant	-	NC_000003.12:g.39143761G>A	gnomAD
CSRNP1	Q96S65	p.Ser355Cys	rs1265818015	missense variant	-	NC_000003.12:g.39143761G>C	gnomAD
CSRNP1	Q96S65	p.Ser356Cys	rs144215660	missense variant	-	NC_000003.12:g.39143758G>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser356Phe	rs144215660	missense variant	-	NC_000003.12:g.39143758G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr357Ile	rs1287723904	missense variant	-	NC_000003.12:g.39143755G>A	gnomAD
CSRNP1	Q96S65	p.Ala358Glu	rs780675519	missense variant	-	NC_000003.12:g.39143752G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala362Thr	rs1385903475	missense variant	-	NC_000003.12:g.39143741C>T	gnomAD
CSRNP1	Q96S65	p.Ser363Leu	rs750819653	missense variant	-	NC_000003.12:g.39143737G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser363Trp	rs750819653	missense variant	-	NC_000003.12:g.39143737G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr365Ile	rs757507423	missense variant	-	NC_000003.12:g.39143731G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala368Thr	rs1159144287	missense variant	-	NC_000003.12:g.39143723C>T	gnomAD
CSRNP1	Q96S65	p.Ala368Gly	rs753951293	missense variant	-	NC_000003.12:g.39143722G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro369Leu	rs1376452319	missense variant	-	NC_000003.12:g.39143719G>A	TOPMed
CSRNP1	Q96S65	p.Pro369Ser	rs1312593045	missense variant	-	NC_000003.12:g.39143720G>A	TOPMed
CSRNP1	Q96S65	p.Asp370Ala	rs1365640405	missense variant	-	NC_000003.12:g.39143716T>G	gnomAD
CSRNP1	Q96S65	p.Pro372Ser	rs764216869	missense variant	-	NC_000003.12:g.39143711G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro372Leu	rs201834210	missense variant	-	NC_000003.12:g.39143710G>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.His374Asn	rs751541215	missense variant	-	NC_000003.12:g.39143705G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.His374Tyr	rs751541215	missense variant	-	NC_000003.12:g.39143705G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro375Ser	rs779358892	missense variant	-	NC_000003.12:g.39143702G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro375Ala	rs779358892	missense variant	-	NC_000003.12:g.39143702G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro375Leu	rs1463409298	missense variant	-	NC_000003.12:g.39143701G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro375Arg	rs1463409298	missense variant	-	NC_000003.12:g.39143701G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly376Arg	rs762753339	missense variant	-	NC_000003.12:g.39143699C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro378Leu	rs527732794	missense variant	-	NC_000003.12:g.39143692G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly379Ala	rs773094089	missense variant	-	NC_000003.12:g.39143689C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro380Leu	rs1280693638	missense variant	-	NC_000003.12:g.39143686G>A	TOPMed
CSRNP1	Q96S65	p.Pro384Ala	rs769413886	missense variant	-	NC_000003.12:g.39143675G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro384Ser	rs769413886	missense variant	-	NC_000003.12:g.39143675G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly385Ser	rs1193917470	missense variant	-	NC_000003.12:g.39143672C>T	TOPMed
CSRNP1	Q96S65	p.Val386Ile	rs776416873	missense variant	-	NC_000003.12:g.39143669C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val386Asp	rs768319111	missense variant	-	NC_000003.12:g.39143668A>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp387His	rs1432423237	missense variant	-	NC_000003.12:g.39143666C>G	gnomAD
CSRNP1	Q96S65	p.Asp388Gly	rs1320264430	missense variant	-	NC_000003.12:g.39143662T>C	gnomAD
CSRNP1	Q96S65	p.Asp388Asn	rs1363497165	missense variant	-	NC_000003.12:g.39143663C>T	gnomAD
CSRNP1	Q96S65	p.Asp389Asn	rs141310941	missense variant	-	NC_000003.12:g.39143660C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala392Ser	rs546791604	missense variant	-	NC_000003.12:g.39143651C>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala392Thr	rs546791604	missense variant	-	NC_000003.12:g.39143651C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala392Pro	rs546791604	missense variant	-	NC_000003.12:g.39143651C>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg393Pro	rs200794258	missense variant	-	NC_000003.12:g.39143647C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg393His	rs200794258	missense variant	-	NC_000003.12:g.39143647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg393Cys	rs372981794	missense variant	-	NC_000003.12:g.39143648G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile394Val	rs756237813	missense variant	-	NC_000003.12:g.39143645T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Leu395Phe	rs1199797266	missense variant	-	NC_000003.12:g.39143640C>G	gnomAD
CSRNP1	Q96S65	p.Phe397Cys	rs1345154673	missense variant	-	NC_000003.12:g.39143635A>C	gnomAD
CSRNP1	Q96S65	p.Ser398Asn	rs1281789075	missense variant	-	NC_000003.12:g.39143632C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser400Cys	rs752801085	missense variant	-	NC_000003.12:g.39143626G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly403Ser	rs767549459	missense variant	-	NC_000003.12:g.39143618C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly403Cys	rs767549459	missense variant	-	NC_000003.12:g.39143618C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu405Gly	rs1332816359	missense variant	-	NC_000003.12:g.39143611T>C	gnomAD
CSRNP1	Q96S65	p.Glu406Ala	rs762957828	missense variant	-	NC_000003.12:g.39143608T>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu406Asp	COSM480074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143607C>A	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Glu407Asp	rs765144765	missense variant	-	NC_000003.12:g.39143604C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu407Lys	rs371907545	missense variant	-	NC_000003.12:g.39143606C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu407Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.39143606C>A	NCI-TCGA
CSRNP1	Q96S65	p.Glu409Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143598C>A	NCI-TCGA
CSRNP1	Q96S65	p.Glu410Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143597C>G	NCI-TCGA
CSRNP1	Q96S65	p.Glu411Lys	COSM1044458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143594C>T	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Gly412Glu	rs201651601	missense variant	-	NC_000003.12:g.39143590C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser413Arg	rs1274957	missense variant	-	NC_000003.12:g.39143586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser413Asn	rs1250572084	missense variant	-	NC_000003.12:g.39143587C>T	TOPMed
CSRNP1	Q96S65	p.Ser413Arg	rs1274957	missense variant	-	NC_000003.12:g.39143586G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val414Met	rs564965786	missense variant	-	NC_000003.12:g.39143585C>T	1000Genomes
CSRNP1	Q96S65	p.Val414Leu	rs564965786	missense variant	-	NC_000003.12:g.39143585C>A	1000Genomes
CSRNP1	Q96S65	p.Gly415Val	rs1476306227	missense variant	-	NC_000003.12:g.39143581C>A	gnomAD
CSRNP1	Q96S65	p.Gly415Arg	rs1467186702	missense variant	-	NC_000003.12:g.39143582C>G	TOPMed
CSRNP1	Q96S65	p.Asn416Ser	rs775143708	missense variant	-	NC_000003.12:g.39143578T>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp418Gly	rs1435451355	missense variant	-	NC_000003.12:g.39143572T>C	TOPMed
CSRNP1	Q96S65	p.Asn419Ser	rs746445033	missense variant	-	NC_000003.12:g.39143569T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Cys422Ser	rs771368470	missense variant	-	NC_000003.12:g.39143560C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Cys422Tyr	rs771368470	missense variant	-	NC_000003.12:g.39143560C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.His424Tyr	rs749596799	missense variant	-	NC_000003.12:g.39143555G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala426Gly	rs778065909	missense variant	-	NC_000003.12:g.39143548G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala426Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143549C>T	NCI-TCGA
CSRNP1	Q96S65	p.Ile428Leu	rs201626609	missense variant	-	NC_000003.12:g.39143543T>G	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile428Val	rs201626609	missense variant	-	NC_000003.12:g.39143543T>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr431Ser	rs765060518	missense variant	-	NC_000003.12:g.39143534T>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr431Ile	rs1356585936	missense variant	-	NC_000003.12:g.39143533G>A	gnomAD
CSRNP1	Q96S65	p.Thr431Ala	rs765060518	missense variant	-	NC_000003.12:g.39143534T>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly435Asp	rs1408137544	missense variant	-	NC_000003.12:g.39143521C>T	gnomAD
CSRNP1	Q96S65	p.Ser439Arg	rs1467262976	missense variant	-	NC_000003.12:g.39143508G>C	gnomAD
CSRNP1	Q96S65	p.Ser439Ile	rs1329835798	missense variant	-	NC_000003.12:g.39143509C>A	gnomAD
CSRNP1	Q96S65	p.Tyr444Cys	rs1162367899	missense variant	-	NC_000003.12:g.39143494T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Tyr444Phe	rs1162367899	missense variant	-	NC_000003.12:g.39143494T>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser445Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143491G>T	NCI-TCGA
CSRNP1	Q96S65	p.Gly446Ser	rs757168166	missense variant	-	NC_000003.12:g.39143489C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Cys447Tyr	rs545087495	missense variant	-	NC_000003.12:g.39143485C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Phe449Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143478G>T	NCI-TCGA
CSRNP1	Q96S65	p.Thr450Ile	COSM730912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143476G>A	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Ser451Leu	rs375066775	missense variant	-	NC_000003.12:g.39143473G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser451Pro	rs572978133	missense variant	-	NC_000003.12:g.39143474A>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly452Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143471C>T	NCI-TCGA
CSRNP1	Q96S65	p.Val453Ile	rs1274958	missense variant	-	NC_000003.12:g.39143468C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val453Ile	rs1274958	missense variant	-	NC_000003.12:g.39143468C>T	UniProt,dbSNP
CSRNP1	Q96S65	p.Val453Ile	VAR_055100	missense variant	-	NC_000003.12:g.39143468C>T	UniProt
CSRNP1	Q96S65	p.Val453Asp	rs1213101242	missense variant	-	NC_000003.12:g.39143467A>T	TOPMed
CSRNP1	Q96S65	p.Glu456Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143459C>T	NCI-TCGA
CSRNP1	Q96S65	p.Glu456Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143457C>A	NCI-TCGA
CSRNP1	Q96S65	p.Ala458Thr	rs1209554803	missense variant	-	NC_000003.12:g.39143453C>T	gnomAD
CSRNP1	Q96S65	p.Asn459Ser	rs1335890339	missense variant	-	NC_000003.12:g.39143449T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala462Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143440G>A	NCI-TCGA
CSRNP1	Q96S65	p.Ser463Asn	rs199812367	missense variant	-	NC_000003.12:g.39143437C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser463Arg	rs1261722861	missense variant	-	NC_000003.12:g.39143436G>C	TOPMed
CSRNP1	Q96S65	p.Cys464Arg	rs1227058302	missense variant	-	NC_000003.12:g.39143435A>G	gnomAD
CSRNP1	Q96S65	p.Cys464Tyr	rs1350000799	missense variant	-	NC_000003.12:g.39143434C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Cys464Ser	rs1350000799	missense variant	-	NC_000003.12:g.39143434C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Phe465Ile	rs749757279	missense variant	-	NC_000003.12:g.39143432A>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly468Asp	rs1348301356	missense variant	-	NC_000003.12:g.39143422C>T	gnomAD
CSRNP1	Q96S65	p.Gly468Ser	rs1196358589	missense variant	-	NC_000003.12:g.39143423C>T	TOPMed
CSRNP1	Q96S65	p.Gly469Asp	rs1461828287	missense variant	-	NC_000003.12:g.39143419C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly472Glu	rs770126733	missense variant	-	NC_000003.12:g.39143410C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly472Val	rs770126733	missense variant	-	NC_000003.12:g.39143410C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser473Leu	rs969780411	missense variant	-	NC_000003.12:g.39143407G>A	TOPMed
CSRNP1	Q96S65	p.Gly476Ser	COSM730913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143399C>T	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Ser477Asn	rs755131354	missense variant	-	NC_000003.12:g.39143395C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu478Phe	rs147162469	missense variant	-	NC_000003.12:g.39143393G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu478Phe	RCV000144229	missense variant	-	NC_000003.12:g.39143393G>A	ClinVar
CSRNP1	Q96S65	p.Thr481Ile	rs757146156	missense variant	-	NC_000003.12:g.39143383G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser482Leu	rs764039494	missense variant	-	NC_000003.12:g.39143380G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser482Ter	rs764039494	stop gained	-	NC_000003.12:g.39143380G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val483Leu	rs752439836	missense variant	-	NC_000003.12:g.39143378C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Val483Met	rs752439836	missense variant	-	NC_000003.12:g.39143378C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro484Leu	rs1232917006	missense variant	-	NC_000003.12:g.39143374G>A	TOPMed
CSRNP1	Q96S65	p.Pro484Ala	rs371134715	missense variant	-	NC_000003.12:g.39143375G>C	ESP,ExAC,gnomAD
CSRNP1	Q96S65	p.Pro484Ser	rs371134715	missense variant	-	NC_000003.12:g.39143375G>A	ESP,ExAC,gnomAD
CSRNP1	Q96S65	p.Ser486Arg	rs1225596715	missense variant	-	NC_000003.12:g.39143369T>G	gnomAD
CSRNP1	Q96S65	p.Ser486Ile	rs759182414	missense variant	-	NC_000003.12:g.39143368C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Met487Val	rs1274527414	missense variant	-	NC_000003.12:g.39143366T>C	gnomAD
CSRNP1	Q96S65	p.Asp488Glu	rs763468626	missense variant	-	NC_000003.12:g.39143361G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp488Gly	rs773768262	missense variant	-	NC_000003.12:g.39143362T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala489Val	rs145148130	missense variant	-	NC_000003.12:g.39143359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala489Gly	rs145148130	missense variant	-	NC_000003.12:g.39143359G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala489Thr	rs1213805679	missense variant	-	NC_000003.12:g.39143360C>T	TOPMed
CSRNP1	Q96S65	p.Gly490Asp	rs1456644721	missense variant	-	NC_000003.12:g.39143356C>T	gnomAD
CSRNP1	Q96S65	p.Arg491Gln	rs199566978	missense variant	-	NC_000003.12:g.39143353C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg491Trp	rs748487431	missense variant	-	NC_000003.12:g.39143354G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser494Leu	rs1255862857	missense variant	-	NC_000003.12:g.39143344G>A	TOPMed
CSRNP1	Q96S65	p.Leu499Phe	rs377548334	missense variant	-	NC_000003.12:g.39143328C>G	ESP,gnomAD
CSRNP1	Q96S65	p.Leu499Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143330A>C	NCI-TCGA
CSRNP1	Q96S65	p.Ser500Phe	rs1455264417	missense variant	-	NC_000003.12:g.39143326G>A	gnomAD
CSRNP1	Q96S65	p.Asp503Gly	rs747186948	missense variant	-	NC_000003.12:g.39143317T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Phe505Leu	rs558531976	missense variant	-	NC_000003.12:g.39143310A>T	1000Genomes
CSRNP1	Q96S65	p.Glu506Ala	rs1415582009	missense variant	-	NC_000003.12:g.39143308T>G	TOPMed
CSRNP1	Q96S65	p.Ala510LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.39143297C>-	NCI-TCGA
CSRNP1	Q96S65	p.Leu511Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143294G>C	NCI-TCGA
CSRNP1	Q96S65	p.Tyr514Phe	rs1218523455	missense variant	-	NC_000003.12:g.39143284T>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser515Thr	rs768820347	missense variant	-	NC_000003.12:g.39143281C>G	TOPMed
CSRNP1	Q96S65	p.Leu516Met	rs780011728	missense variant	-	NC_000003.12:g.39143279G>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly517Arg	rs913212988	missense variant	-	NC_000003.12:g.39143276C>G	TOPMed
CSRNP1	Q96S65	p.Pro518Thr	rs538715292	missense variant	-	NC_000003.12:g.39143273G>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Pro518Ser	rs538715292	missense variant	-	NC_000003.12:g.39143273G>A	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Gln523Pro	rs1295147315	missense variant	-	NC_000003.12:g.39143257T>G	gnomAD
CSRNP1	Q96S65	p.Ser526Thr	rs1290599589	missense variant	-	NC_000003.12:g.39143249A>T	gnomAD
CSRNP1	Q96S65	p.Asp527Gly	rs1445699545	missense variant	-	NC_000003.12:g.39143245T>C	gnomAD
CSRNP1	Q96S65	p.Ser528Thr	rs756024543	missense variant	-	NC_000003.12:g.39143242C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser528Asn	rs756024543	missense variant	-	NC_000003.12:g.39143242C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile532Val	rs1312908010	missense variant	-	NC_000003.12:g.39143231T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile532Met	rs372252051	missense variant	-	NC_000003.12:g.39143229G>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu533Lys	rs1167568904	missense variant	-	NC_000003.12:g.39143228C>T	gnomAD
CSRNP1	Q96S65	p.Glu533Gly	rs1428337873	missense variant	-	NC_000003.12:g.39143227T>C	gnomAD
CSRNP1	Q96S65	p.Pro535Leu	rs781003783	missense variant	-	NC_000003.12:g.39143221G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.His536Arg	rs1188823766	missense variant	-	NC_000003.12:g.39143218T>C	gnomAD
CSRNP1	Q96S65	p.Phe537Leu	rs754593845	missense variant	-	NC_000003.12:g.39143214G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Phe537Leu	rs754593845	missense variant	-	NC_000003.12:g.39143214G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly541Ser	rs201765293	missense variant	-	NC_000003.12:g.39143204C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Gly541Ala	rs1486686309	missense variant	-	NC_000003.12:g.39143203C>G	gnomAD
CSRNP1	Q96S65	p.Leu542Pro	rs762414194	missense variant	-	NC_000003.12:g.39143200A>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser543Phe	rs1354977825	missense variant	-	NC_000003.12:g.39143197G>A	TOPMed
CSRNP1	Q96S65	p.Pro544Leu	rs1226565729	missense variant	-	NC_000003.12:g.39143194G>A	gnomAD
CSRNP1	Q96S65	p.Pro545Leu	COSM3593792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143191G>A	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Gly546Arg	rs1219438525	missense variant	-	NC_000003.12:g.39143189C>T	TOPMed
CSRNP1	Q96S65	p.Gly546Ala	rs1016123717	missense variant	-	NC_000003.12:g.39143188C>G	gnomAD
CSRNP1	Q96S65	p.Gly546Glu	rs1016123717	missense variant	-	NC_000003.12:g.39143188C>T	gnomAD
CSRNP1	Q96S65	p.Gly546Trp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143189C>A	NCI-TCGA
CSRNP1	Q96S65	p.Ala548Thr	COSM5864489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143183C>T	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Phe552Ser	rs762266789	missense variant	-	NC_000003.12:g.39143170A>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser555Phe	rs990113401	missense variant	-	NC_000003.12:g.39143161G>A	TOPMed
CSRNP1	Q96S65	p.Ser560Pro	rs201069132	missense variant	-	NC_000003.12:g.39143147A>G	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser560Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143146G>C	NCI-TCGA
CSRNP1	Q96S65	p.Glu561Lys	rs577008244	missense variant	-	NC_000003.12:g.39143144C>T	gnomAD
CSRNP1	Q96S65	p.Pro562Ser	rs868231312	missense variant	-	NC_000003.12:g.39143141G>A	gnomAD
CSRNP1	Q96S65	p.Ala564Thr	rs112383054	missense variant	-	NC_000003.12:g.39143135C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala564Pro	rs112383054	missense variant	-	NC_000003.12:g.39143135C>G	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu565Lys	rs1195460382	missense variant	-	NC_000003.12:g.39143132C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu565Gly	rs1440306652	missense variant	-	NC_000003.12:g.39143131T>C	TOPMed
CSRNP1	Q96S65	p.Glu565Ter	rs1195460382	stop gained	-	NC_000003.12:g.39143132C>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala566Val	rs1024021437	missense variant	-	NC_000003.12:g.39143128G>A	TOPMed
CSRNP1	Q96S65	p.Leu567Arg	rs1252855900	missense variant	-	NC_000003.12:g.39143125A>C	gnomAD
CSRNP1	Q96S65	p.Asp568Tyr	rs780866317	missense variant	-	NC_000003.12:g.39143123C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp568Asn	rs780866317	missense variant	-	NC_000003.12:g.39143123C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro569Ser	COSM1692615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143120G>A	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Asp572Glu	rs1001697783	missense variant	-	NC_000003.12:g.39143109G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp572Asn	rs1377735772	missense variant	-	NC_000003.12:g.39143111C>T	TOPMed
CSRNP1	Q96S65	p.Phe575Ser	rs1013929707	missense variant	-	NC_000003.12:g.39143101A>G	TOPMed
CSRNP1	Q96S65	p.Phe575Val	rs1235040749	missense variant	-	NC_000003.12:g.39143102A>C	gnomAD
CSRNP1	Q96S65	p.Thr578Ala	rs368077080	missense variant	-	NC_000003.12:g.39143093T>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala581Pro	rs751206841	missense variant	-	NC_000003.12:g.39143084C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala581Thr	rs751206841	missense variant	-	NC_000003.12:g.39143084C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser582Tyr	rs202204996	missense variant	-	NC_000003.12:g.39143080G>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser582Cys	rs202204996	missense variant	-	NC_000003.12:g.39143080G>C	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser582Phe	rs202204996	missense variant	-	NC_000003.12:g.39143080G>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu583Val	COSM1328240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.39143078G>C	NCI-TCGA Cosmic
CSRNP1	Q96S65	p.Met584Ile	rs762320018	missense variant	-	NC_000003.12:g.39143073C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Met584Val	rs1463426097	missense variant	-	NC_000003.12:g.39143075T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu585Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.39143072C>T	NCI-TCGA
CSRNP1	Q96S65	p.Pro586Leu	rs1181089321	missense variant	-	NC_000003.12:g.39143068G>A	gnomAD
CSRNP1	Q96S65	p.Val587Met	rs1458706673	missense variant	-	NC_000003.12:g.39143066C>T	TOPMed
CSRNP1	Q96S65	p.Pro588Leu	rs764432988	missense variant	-	NC_000003.12:g.39143062G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro588Arg	rs764432988	missense variant	-	NC_000003.12:g.39143062G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro588AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.39143064_39143065insT	NCI-TCGA
CSRNP1	Q96S65	p.Val589Met	rs772447030	missense variant	-	NC_000003.12:g.39143060C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val589Ala	rs1467909172	missense variant	-	NC_000003.12:g.39143059A>G	gnomAD
CSRNP1	Q96S65	p.Thr2Ser	rs1310399913	missense variant	-	NC_000003.12:g.39146678G>C	TOPMed
CSRNP1	Q96S65	p.Leu4Val	rs1362797413	missense variant	-	NC_000003.12:g.39146673G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg7Lys	rs763611186	missense variant	-	NC_000003.12:g.39146663C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Lys8Asn	rs760169100	missense variant	-	NC_000003.12:g.39146659T>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Phe9Ser	rs1292627402	missense variant	-	NC_000003.12:g.39146657A>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp10His	rs776047978	missense variant	-	NC_000003.12:g.39146655C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gln11His	rs201798561	missense variant	-	NC_000003.12:g.39146650C>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp13Asn	rs1240023922	missense variant	-	NC_000003.12:g.39146646C>T	gnomAD
CSRNP1	Q96S65	p.Asp15Gly	rs1352163268	missense variant	-	NC_000003.12:g.39146639T>C	gnomAD
CSRNP1	Q96S65	p.Asp15Glu	rs1281121233	missense variant	-	NC_000003.12:g.39146638G>C	gnomAD
CSRNP1	Q96S65	p.Ser18Leu	rs759995863	missense variant	-	NC_000003.12:g.39146630G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val19Ile	rs375017149	missense variant	-	NC_000003.12:g.39146628C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser21Phe	rs771288688	missense variant	-	NC_000003.12:g.39146621G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser22Phe	rs773553421	missense variant	-	NC_000003.12:g.39146618G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser22Tyr	rs773553421	missense variant	-	NC_000003.12:g.39146618G>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser23Cys	rs1191533266	missense variant	-	NC_000003.12:g.39146615G>C	TOPMed
CSRNP1	Q96S65	p.Ser25Tyr	rs368541138	missense variant	-	NC_000003.12:g.39146609G>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser25Phe	rs368541138	missense variant	-	NC_000003.12:g.39146609G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser26Tyr	rs1261115358	missense variant	-	NC_000003.12:g.39146606G>T	gnomAD
CSRNP1	Q96S65	p.Ser26Thr	rs1445419888	missense variant	-	NC_000003.12:g.39146607A>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly27Arg	rs1291091908	missense variant	-	NC_000003.12:g.39146604C>T	gnomAD
CSRNP1	Q96S65	p.Arg31His	rs142952358	missense variant	-	NC_000003.12:g.39146591C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg31Cys	rs144818359	missense variant	-	NC_000003.12:g.39146592G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg31Pro	rs142952358	missense variant	-	NC_000003.12:g.39146591C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser32Phe	rs889733119	missense variant	-	NC_000003.12:g.39146588G>A	TOPMed
CSRNP1	Q96S65	p.Ser34Phe	rs1027304792	missense variant	-	NC_000003.12:g.39146582G>A	gnomAD
CSRNP1	Q96S65	p.Ser36Asn	rs1013491466	missense variant	-	NC_000003.12:g.39146576C>T	TOPMed
CSRNP1	Q96S65	p.Arg41His	rs370236918	missense variant	-	NC_000003.12:g.39146561C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg41Cys	rs150285879	missense variant	-	NC_000003.12:g.39146562G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala42Thr	rs1318370973	missense variant	-	NC_000003.12:g.39146559C>T	gnomAD
CSRNP1	Q96S65	p.Glu46Lys	rs1403380381	missense variant	-	NC_000003.12:g.39146547C>T	gnomAD
CSRNP1	Q96S65	p.Pro50Arg	rs1335155149	missense variant	-	NC_000003.12:g.39146534G>C	gnomAD
CSRNP1	Q96S65	p.Pro50Leu	rs1335155149	missense variant	-	NC_000003.12:g.39146534G>A	gnomAD
CSRNP1	Q96S65	p.Asp52Val	rs376945104	missense variant	-	NC_000003.12:g.39146528T>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro55Ser	rs1426308440	missense variant	-	NC_000003.12:g.39146520G>A	gnomAD
CSRNP1	Q96S65	p.Leu56Met	rs140082006	missense variant	-	NC_000003.12:g.39146517G>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro57Leu	rs1372622205	missense variant	-	NC_000003.12:g.39146513G>A	gnomAD
CSRNP1	Q96S65	p.Arg59His	rs1241462641	missense variant	-	NC_000003.12:g.39146507C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg59Cys	rs543815580	missense variant	-	NC_000003.12:g.39146508G>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly63Ser	rs766868456	missense variant	-	NC_000003.12:g.39146496C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly63Arg	rs766868456	missense variant	-	NC_000003.12:g.39146496C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro64His	rs1393966154	missense variant	-	NC_000003.12:g.39146492G>T	gnomAD
CSRNP1	Q96S65	p.Ser66Asn	rs1280440413	missense variant	-	NC_000003.12:g.39146486C>T	gnomAD
CSRNP1	Q96S65	p.Thr68Ala	rs1163075596	missense variant	-	NC_000003.12:g.39146481T>C	gnomAD
CSRNP1	Q96S65	p.Thr68Ser	rs1212772457	missense variant	-	NC_000003.12:g.39146480G>C	gnomAD
CSRNP1	Q96S65	p.Pro69Leu	rs778900757	missense variant	-	NC_000003.12:g.39145256G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro69Ser	rs767566574	missense variant	-	NC_000003.12:g.39146478G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu70Val	rs1318238038	missense variant	-	NC_000003.12:g.39145254G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile72Val	rs751584024	missense variant	-	NC_000003.12:g.39145248T>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Lys74Arg	rs1309227373	missense variant	-	NC_000003.12:g.39145241T>C	gnomAD
CSRNP1	Q96S65	p.Arg75Gln	rs186954725	missense variant	-	NC_000003.12:g.39145238C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg75Gly	rs1432142196	missense variant	-	NC_000003.12:g.39145239G>C	gnomAD
CSRNP1	Q96S65	p.Arg77Leu	rs780574067	missense variant	-	NC_000003.12:g.39145232C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg77His	rs780574067	missense variant	-	NC_000003.12:g.39145232C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg77Cys	rs755787292	missense variant	-	NC_000003.12:g.39145233G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg78Gln	rs766961372	missense variant	-	NC_000003.12:g.39145229C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg78Pro	rs766961372	missense variant	-	NC_000003.12:g.39145229C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg78Trp	rs752072229	missense variant	-	NC_000003.12:g.39145230G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg80His	rs375727374	missense variant	-	NC_000003.12:g.39145223C>T	ESP,ExAC,gnomAD
CSRNP1	Q96S65	p.Arg80Cys	rs967086569	missense variant	-	NC_000003.12:g.39145224G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg83Gly	rs768679810	missense variant	-	NC_000003.12:g.39145215G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg83Cys	rs768679810	missense variant	-	NC_000003.12:g.39145215G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg83His	rs760808464	missense variant	-	NC_000003.12:g.39145214C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala85Asp	rs1222834980	missense variant	-	NC_000003.12:g.39145208G>T	gnomAD
CSRNP1	Q96S65	p.Asp87Gly	rs1350464448	missense variant	-	NC_000003.12:g.39145202T>C	gnomAD
CSRNP1	Q96S65	p.Gly88Arg	rs1449267702	missense variant	-	NC_000003.12:g.39145200C>T	gnomAD
CSRNP1	Q96S65	p.Thr90Ile	rs372871421	missense variant	-	NC_000003.12:g.39145193G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val91Ile	rs777576620	missense variant	-	NC_000003.12:g.39145191C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Phe92Ile	rs1302643910	missense variant	-	NC_000003.12:g.39145188A>T	gnomAD
CSRNP1	Q96S65	p.Arg96Cys	rs1157272245	missense variant	-	NC_000003.12:g.39145176G>A	gnomAD
CSRNP1	Q96S65	p.Arg96His	rs747810918	missense variant	-	NC_000003.12:g.39145175C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Cys97Trp	rs780891431	missense variant	-	NC_000003.12:g.39145171G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Thr101Ile	rs1379248858	missense variant	-	NC_000003.12:g.39145160G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Val103Met	rs746506026	missense variant	-	NC_000003.12:g.39145155C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg106Leu	rs79896317	missense variant	-	NC_000003.12:g.39145145C>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg106His	rs79896317	missense variant	-	NC_000003.12:g.39145145C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg106Cys	rs201668977	missense variant	-	NC_000003.12:g.39145146G>A	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Gly107Ser	rs1368598720	missense variant	-	NC_000003.12:g.39145143C>T	TOPMed
CSRNP1	Q96S65	p.Gly112Asp	rs907174619	missense variant	-	NC_000003.12:g.39145127C>T	TOPMed
CSRNP1	Q96S65	p.Arg116His	rs757630647	missense variant	-	NC_000003.12:g.39145115C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg116Cys	rs145870952	missense variant	-	NC_000003.12:g.39145116G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser118Asn	rs1465033986	missense variant	-	NC_000003.12:g.39145109C>T	gnomAD
CSRNP1	Q96S65	p.Ala119Gly	rs1269182910	missense variant	-	NC_000003.12:g.39145106G>C	gnomAD
CSRNP1	Q96S65	p.Ala119Val	rs1269182910	missense variant	-	NC_000003.12:g.39145106G>A	gnomAD
CSRNP1	Q96S65	p.Arg121Cys	rs369362214	missense variant	-	NC_000003.12:g.39145101G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg121Leu	rs760720188	missense variant	-	NC_000003.12:g.39145100C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg121His	rs760720188	missense variant	-	NC_000003.12:g.39145100C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg122Ser	rs372028126	missense variant	-	NC_000003.12:g.39145098G>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg122Cys	rs372028126	missense variant	-	NC_000003.12:g.39145098G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg122His	rs200798768	missense variant	-	NC_000003.12:g.39145097C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu125Trp	rs762883711	missense variant	-	NC_000003.12:g.39145088A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu127Asp	rs1430319021	missense variant	-	NC_000003.12:g.39145081C>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala129Glu	rs866090111	missense variant	-	NC_000003.12:g.39145076G>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala129Val	rs866090111	missense variant	-	NC_000003.12:g.39145076G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gln130Leu	rs776192489	missense variant	-	NC_000003.12:g.39145073T>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Gln130Arg	rs776192489	missense variant	-	NC_000003.12:g.39145073T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Gln130Lys	rs769542490	missense variant	-	NC_000003.12:g.39145074G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu131Asp	rs1428334987	missense variant	-	NC_000003.12:g.39145069C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala133Val	rs768372949	missense variant	-	NC_000003.12:g.39145064G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg134His	rs757921966	missense variant	-	NC_000003.12:g.39145061C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg134Cys	rs779714471	missense variant	-	NC_000003.12:g.39145062G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg136Gln	rs149009984	missense variant	-	NC_000003.12:g.39145055C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Arg136Trp	rs746438028	missense variant	-	NC_000003.12:g.39145056G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu138Lys	rs372648220	missense variant	-	NC_000003.12:g.39145050C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Lys139Gln	rs562210829	missense variant	-	NC_000003.12:g.39145047T>G	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Arg141His	rs139691127	missense variant	-	NC_000003.12:g.39145040C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg141Cys	rs374212431	missense variant	-	NC_000003.12:g.39145041G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg143His	rs145992009	missense variant	-	NC_000003.12:g.39145034C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg143Cys	rs150622788	missense variant	-	NC_000003.12:g.39145035G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu147Gln	rs138067710	missense variant	-	NC_000003.12:g.39145023C>G	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu147Asp	rs1303168616	missense variant	-	NC_000003.12:g.39145021C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Lys148Glu	rs776520739	missense variant	-	NC_000003.12:g.39145020T>C	ExAC
CSRNP1	Q96S65	p.Met151Thr	rs768268943	missense variant	-	NC_000003.12:g.39145010A>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Leu152Pro	rs1227253392	missense variant	-	NC_000003.12:g.39145007A>G	TOPMed
CSRNP1	Q96S65	p.Ser157Trp	rs781483967	missense variant	-	NC_000003.12:g.39144447G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser157Leu	rs781483967	missense variant	-	NC_000003.12:g.39144447G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala159Val	rs780194452	missense variant	-	NC_000003.12:g.39144441G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala159Ser	rs112352444	missense variant	-	NC_000003.12:g.39144442C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala159Gly	rs780194452	missense variant	-	NC_000003.12:g.39144441G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly160Ala	rs1314960923	missense variant	-	NC_000003.12:g.39144438C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly160Glu	rs1314960923	missense variant	-	NC_000003.12:g.39144438C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Val161Gly	rs758393111	missense variant	-	NC_000003.12:g.39144435A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Val161Leu	rs1287453540	missense variant	-	NC_000003.12:g.39144436C>A	gnomAD
CSRNP1	Q96S65	p.Glu165Gly	rs1352204708	missense variant	-	NC_000003.12:g.39144423T>C	gnomAD
CSRNP1	Q96S65	p.Leu168Pro	rs890879591	missense variant	-	NC_000003.12:g.39144414A>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu168Arg	rs890879591	missense variant	-	NC_000003.12:g.39144414A>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro169Ser	rs753878701	missense variant	-	NC_000003.12:g.39144412G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro169Leu	rs1164695859	missense variant	-	NC_000003.12:g.39144411G>A	gnomAD
CSRNP1	Q96S65	p.Pro170His	rs1310984541	missense variant	-	NC_000003.12:g.39144408G>T	TOPMed
CSRNP1	Q96S65	p.Pro170Thr	rs145888015	missense variant	-	NC_000003.12:g.39144409G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val171Gly	rs1212066771	missense variant	-	NC_000003.12:g.39144405A>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Val171Met	rs531666797	missense variant	-	NC_000003.12:g.39144406C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Ala174Val	rs1473211129	missense variant	-	NC_000003.12:g.39144396G>A	gnomAD
CSRNP1	Q96S65	p.Ala174Thr	rs1158821849	missense variant	-	NC_000003.12:g.39144397C>T	gnomAD
CSRNP1	Q96S65	p.Ile175Val	rs1414744505	missense variant	-	NC_000003.12:g.39144394T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp177Asn	rs752562774	missense variant	-	NC_000003.12:g.39144388C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala178Thr	rs759270599	missense variant	-	NC_000003.12:g.39144385C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala178Asp	rs765975625	missense variant	-	NC_000003.12:g.39144384G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala178Val	rs765975625	missense variant	-	NC_000003.12:g.39144384G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser179Tyr	rs762367732	missense variant	-	NC_000003.12:g.39144381G>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Val180Met	rs773816035	missense variant	-	NC_000003.12:g.39144379C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu182Val	rs1331141908	missense variant	-	NC_000003.12:g.39144372T>A	gnomAD
CSRNP1	Q96S65	p.Glu182Lys	rs1228721603	missense variant	-	NC_000003.12:g.39144373C>T	gnomAD
CSRNP1	Q96S65	p.Ala185Glu	rs1331233254	missense variant	-	NC_000003.12:g.39144363G>T	gnomAD
CSRNP1	Q96S65	p.Val186Ile	rs927189569	missense variant	-	NC_000003.12:g.39144361C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala187Thr	rs776980215	missense variant	-	NC_000003.12:g.39144358C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala187Ser	rs776980215	missense variant	-	NC_000003.12:g.39144358C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val188Leu	rs768950919	missense variant	-	NC_000003.12:g.39144355C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly190Asp	rs749571779	missense variant	-	NC_000003.12:g.39144348C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg192Trp	rs745915113	missense variant	-	NC_000003.12:g.39144343G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg192Gln	rs532218961	missense variant	-	NC_000003.12:g.39144342C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu193Trp	rs754810673	missense variant	-	NC_000003.12:g.39144339A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Leu193Ter	rs754810673	stop gained	-	NC_000003.12:g.39144339A>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Leu193Val	rs752619572	missense variant	-	NC_000003.12:g.39144340A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu194Lys	rs751294413	missense variant	-	NC_000003.12:g.39144337C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu195Lys	rs765922302	missense variant	-	NC_000003.12:g.39144334C>T	ExAC
CSRNP1	Q96S65	p.Val196Gly	rs941546443	missense variant	-	NC_000003.12:g.39144330A>C	gnomAD
CSRNP1	Q96S65	p.Val196Leu	rs560006152	missense variant	-	NC_000003.12:g.39144331C>A	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Gln200Glu	rs910032303	missense variant	-	NC_000003.12:g.39144319G>C	gnomAD
CSRNP1	Q96S65	p.Pro201Ser	rs1363819613	missense variant	-	NC_000003.12:g.39144316G>A	gnomAD
CSRNP1	Q96S65	p.Tyr202Phe	rs777108852	missense variant	-	NC_000003.12:g.39144312T>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Tyr202His	rs1408345052	missense variant	-	NC_000003.12:g.39144313A>G	TOPMed
CSRNP1	Q96S65	p.Pro203Leu	rs540112925	missense variant	-	NC_000003.12:g.39144309G>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro203Ser	rs1436798077	missense variant	-	NC_000003.12:g.39144310G>A	gnomAD
CSRNP1	Q96S65	p.Ala204Thr	rs1332562517	missense variant	-	NC_000003.12:g.39144307C>T	gnomAD
CSRNP1	Q96S65	p.Arg205Gln	rs775832050	missense variant	-	NC_000003.12:g.39144303C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg205Trp	rs375176179	missense variant	-	NC_000003.12:g.39144304G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg206Gln	rs746064037	missense variant	-	NC_000003.12:g.39144300C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg206Ter	rs1427983004	stop gained	-	NC_000003.12:g.39144301G>A	gnomAD
CSRNP1	Q96S65	p.Arg207Cys	rs779138699	missense variant	-	NC_000003.12:g.39144298G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg207His	rs1314435386	missense variant	-	NC_000003.12:g.39144297C>T	TOPMed
CSRNP1	Q96S65	p.Arg208Gln	rs757359136	missense variant	-	NC_000003.12:g.39144294C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg208Ter	rs1451528917	stop gained	-	NC_000003.12:g.39144295G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala209Thr	rs574676260	missense variant	-	NC_000003.12:g.39144292C>T	1000Genomes,gnomAD
CSRNP1	Q96S65	p.Leu210Arg	rs1442935032	missense variant	-	NC_000003.12:g.39144288A>C	gnomAD
CSRNP1	Q96S65	p.Leu211Met	rs1280730335	missense variant	-	NC_000003.12:g.39144286G>T	gnomAD
CSRNP1	Q96S65	p.Ala213Thr	rs748157430	missense variant	-	NC_000003.12:g.39144280C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly215Asp	rs754844331	missense variant	-	NC_000003.12:g.39144273C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg217Gly	rs1230198888	missense variant	-	NC_000003.12:g.39144268G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg217Ter	rs1230198888	stop gained	-	NC_000003.12:g.39144268G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg217Gln	rs1380059383	missense variant	-	NC_000003.12:g.39144267C>T	gnomAD
CSRNP1	Q96S65	p.Arg218Lys	rs1282804841	missense variant	-	NC_000003.12:g.39144264C>T	gnomAD
CSRNP1	Q96S65	p.Arg218Ser	rs751331439	missense variant	-	NC_000003.12:g.39144263C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp220Tyr	rs750030169	missense variant	-	NC_000003.12:g.39144259C>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp220Asn	rs750030169	missense variant	-	NC_000003.12:g.39144259C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp220Glu	rs764784548	missense variant	-	NC_000003.12:g.39144257A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp220His	rs750030169	missense variant	-	NC_000003.12:g.39144259C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp220Gly	rs1212248365	missense variant	-	NC_000003.12:g.39144258T>C	TOPMed
CSRNP1	Q96S65	p.Arg221Pro	rs200920696	missense variant	-	NC_000003.12:g.39144255C>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg221Trp	rs200194534	missense variant	-	NC_000003.12:g.39144256G>A	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Arg221Gln	rs200920696	missense variant	-	NC_000003.12:g.39144255C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg221Leu	rs200920696	missense variant	-	NC_000003.12:g.39144255C>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu223Asp	rs1431890424	missense variant	-	NC_000003.12:g.39144248C>G	gnomAD
CSRNP1	Q96S65	p.Arg225Trp	rs142034027	missense variant	-	NC_000003.12:g.39144244G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg225Gln	rs757183769	missense variant	-	NC_000003.12:g.39144243C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg231Cys	rs377641112	missense variant	-	NC_000003.12:g.39144226G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser233Tyr	rs371362611	missense variant	-	NC_000003.12:g.39144219G>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg234Trp	rs376235916	missense variant	-	NC_000003.12:g.39144217G>A	ESP,ExAC,gnomAD
CSRNP1	Q96S65	p.Glu235Asp	rs768505796	missense variant	-	NC_000003.12:g.39144212C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp236His	rs1408574666	missense variant	-	NC_000003.12:g.39144211C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp236Asn	rs1408574666	missense variant	-	NC_000003.12:g.39144211C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Cys239Gly	rs779723581	missense variant	-	NC_000003.12:g.39144202A>C	ExAC,gnomAD
CSRNP1	Q96S65	p.His240Tyr	rs1411814018	missense variant	-	NC_000003.12:g.39144199G>A	gnomAD
CSRNP1	Q96S65	p.Asp242Gly	rs778503664	missense variant	-	NC_000003.12:g.39144192T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp242Asn	rs558716018	missense variant	-	NC_000003.12:g.39144193C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Asp246His	rs1472231987	missense variant	-	NC_000003.12:g.39144181C>G	gnomAD
CSRNP1	Q96S65	p.Asp246Asn	rs1472231987	missense variant	-	NC_000003.12:g.39144181C>T	gnomAD
CSRNP1	Q96S65	p.Pro247Ser	rs763622961	missense variant	-	NC_000003.12:g.39144178G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu248Asp	rs753190970	missense variant	-	NC_000003.12:g.39144173C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu248Ala	rs1245604657	missense variant	-	NC_000003.12:g.39144174T>G	gnomAD
CSRNP1	Q96S65	p.Cys250Gly	rs1452936894	missense variant	-	NC_000003.12:g.39144169A>C	gnomAD
CSRNP1	Q96S65	p.Ile257Leu	rs1226886034	missense variant	-	NC_000003.12:g.39144148T>G	gnomAD
CSRNP1	Q96S65	p.Lys258Arg	rs1289587036	missense variant	-	NC_000003.12:g.39144144T>C	gnomAD
CSRNP1	Q96S65	p.Lys258Glu	rs113251235	missense variant	-	NC_000003.12:g.39144145T>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.His263Gln	rs1353304300	missense variant	-	NC_000003.12:g.39144036G>C	gnomAD
CSRNP1	Q96S65	p.Thr264Ile	rs375810664	missense variant	-	NC_000003.12:g.39144034G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro267Thr	rs1434620743	missense variant	-	NC_000003.12:g.39144026G>T	gnomAD
CSRNP1	Q96S65	p.Pro267His	rs768039738	missense variant	-	NC_000003.12:g.39144025G>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Arg272Lys	rs868504201	missense variant	-	NC_000003.12:g.39144010C>T	gnomAD
CSRNP1	Q96S65	p.Gly274Asp	rs1358451625	missense variant	-	NC_000003.12:g.39144004C>T	gnomAD
CSRNP1	Q96S65	p.Glu276Gln	rs1400526552	missense variant	-	NC_000003.12:g.39143999C>G	gnomAD
CSRNP1	Q96S65	p.Pro278Ser	rs752000496	missense variant	-	NC_000003.12:g.39143993G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Met279Thr	rs1045645967	missense variant	-	NC_000003.12:g.39143989A>G	TOPMed
CSRNP1	Q96S65	p.Gly280Asp	rs949881028	missense variant	-	NC_000003.12:g.39143986C>T	TOPMed
CSRNP1	Q96S65	p.Arg281His	rs188709083	missense variant	-	NC_000003.12:g.39143983C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg281Cys	rs1421409940	missense variant	-	NC_000003.12:g.39143984G>A	TOPMed
CSRNP1	Q96S65	p.Phe284Val	rs1324132635	missense variant	-	NC_000003.12:g.39143975A>C	TOPMed
CSRNP1	Q96S65	p.Asn285Ser	rs1394092813	missense variant	-	NC_000003.12:g.39143971T>C	TOPMed
CSRNP1	Q96S65	p.Val289Ile	rs1441697885	missense variant	-	NC_000003.12:g.39143960C>T	TOPMed
CSRNP1	Q96S65	p.Thr291Ala	rs773551314	missense variant	-	NC_000003.12:g.39143954T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Thr291Ser	rs773551314	missense variant	-	NC_000003.12:g.39143954T>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ile294Phe	rs1325154765	missense variant	-	NC_000003.12:g.39143945T>A	TOPMed
CSRNP1	Q96S65	p.Leu297Phe	rs758292915	missense variant	-	NC_000003.12:g.39143936G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr298Ser	rs151312697	missense variant	-	NC_000003.12:g.39143933T>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr298Ala	rs151312697	missense variant	-	NC_000003.12:g.39143933T>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg299Cys	rs978846651	missense variant	-	NC_000003.12:g.39143930G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg299His	rs745767055	missense variant	-	NC_000003.12:g.39143929C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg299Ser	rs978846651	missense variant	-	NC_000003.12:g.39143930G>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gln301His	rs777481412	missense variant	-	NC_000003.12:g.39143922C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Gln301Pro	rs184024059	missense variant	-	NC_000003.12:g.39143923T>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gln301His	rs777481412	missense variant	-	NC_000003.12:g.39143922C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Leu302Ser	rs145163556	missense variant	-	NC_000003.12:g.39143920A>G	ESP,ExAC,TOPMed
CSRNP1	Q96S65	p.Glu303Gln	rs1394006588	missense variant	-	NC_000003.12:g.39143918C>G	gnomAD
CSRNP1	Q96S65	p.Glu307Lys	rs747675173	missense variant	-	NC_000003.12:g.39143906C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu307Ala	rs1450104863	missense variant	-	NC_000003.12:g.39143905T>G	gnomAD
CSRNP1	Q96S65	p.Leu312Val	rs1167375268	missense variant	-	NC_000003.12:g.39143891G>C	gnomAD
CSRNP1	Q96S65	p.Ala314Ser	rs1430007644	missense variant	-	NC_000003.12:g.39143885C>A	gnomAD
CSRNP1	Q96S65	p.Pro315Leu	rs1391573588	missense variant	-	NC_000003.12:g.39143881G>A	gnomAD
CSRNP1	Q96S65	p.Ala316Gly	rs780522832	missense variant	-	NC_000003.12:g.39143878G>C	ExAC,TOPMed
CSRNP1	Q96S65	p.Ala316Val	rs780522832	missense variant	-	NC_000003.12:g.39143878G>A	ExAC,TOPMed
CSRNP1	Q96S65	p.Gln317Glu	rs1474093338	missense variant	-	NC_000003.12:g.39143876G>C	TOPMed
CSRNP1	Q96S65	p.Gly318Asp	rs1164008450	missense variant	-	NC_000003.12:g.39143872C>T	TOPMed
CSRNP1	Q96S65	p.Pro323Ser	rs200100332	missense variant	-	NC_000003.12:g.39143858G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro323Leu	rs367688111	missense variant	-	NC_000003.12:g.39143857G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala327Val	rs1204437952	missense variant	-	NC_000003.12:g.39143845G>A	gnomAD
CSRNP1	Q96S65	p.Pro330Leu	rs1253356223	missense variant	-	NC_000003.12:g.39143836G>A	gnomAD
CSRNP1	Q96S65	p.Leu334Val	rs750650484	missense variant	-	NC_000003.12:g.39143825G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala335Val	rs1235095342	missense variant	-	NC_000003.12:g.39143821G>A	gnomAD
CSRNP1	Q96S65	p.Ala335Thr	rs761889545	missense variant	-	NC_000003.12:g.39143822C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Lys336Asn	rs776803093	missense variant	-	NC_000003.12:g.39143817C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro337His	rs199874965	missense variant	-	NC_000003.12:g.39143815G>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Met339Thr	rs987660939	missense variant	-	NC_000003.12:g.39143809A>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Met339Val	rs1319552416	missense variant	-	NC_000003.12:g.39143810T>C	TOPMed
CSRNP1	Q96S65	p.Asn341Asp	rs1413291097	missense variant	-	NC_000003.12:g.39143804T>C	TOPMed
CSRNP1	Q96S65	p.Asn341Ser	rs759484714	missense variant	-	NC_000003.12:g.39143803T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly344Arg	rs1457075773	missense variant	-	NC_000003.12:g.39143795C>T	gnomAD
CSRNP1	Q96S65	p.Asp345Val	rs1368273847	missense variant	-	NC_000003.12:g.39143791T>A	gnomAD
CSRNP1	Q96S65	p.Cys348Trp	rs1021153305	missense variant	-	NC_000003.12:g.39143781G>C	TOPMed
CSRNP1	Q96S65	p.Asp351Val	rs1483448555	missense variant	-	NC_000003.12:g.39143773T>A	gnomAD
CSRNP1	Q96S65	p.Asp351Asn	rs892928786	missense variant	-	NC_000003.12:g.39143774C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Met352Val	rs772791468	missense variant	-	NC_000003.12:g.39143771T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Met352Lys	rs769511465	missense variant	-	NC_000003.12:g.39143770A>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser355Phe	rs1265818015	missense variant	-	NC_000003.12:g.39143761G>A	gnomAD
CSRNP1	Q96S65	p.Ser355Cys	rs1265818015	missense variant	-	NC_000003.12:g.39143761G>C	gnomAD
CSRNP1	Q96S65	p.Ser356Phe	rs144215660	missense variant	-	NC_000003.12:g.39143758G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser356Cys	rs144215660	missense variant	-	NC_000003.12:g.39143758G>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr357Ile	rs1287723904	missense variant	-	NC_000003.12:g.39143755G>A	gnomAD
CSRNP1	Q96S65	p.Ala358Glu	rs780675519	missense variant	-	NC_000003.12:g.39143752G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala362Thr	rs1385903475	missense variant	-	NC_000003.12:g.39143741C>T	gnomAD
CSRNP1	Q96S65	p.Ser363Trp	rs750819653	missense variant	-	NC_000003.12:g.39143737G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser363Leu	rs750819653	missense variant	-	NC_000003.12:g.39143737G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr365Ile	rs757507423	missense variant	-	NC_000003.12:g.39143731G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala368Thr	rs1159144287	missense variant	-	NC_000003.12:g.39143723C>T	gnomAD
CSRNP1	Q96S65	p.Ala368Gly	rs753951293	missense variant	-	NC_000003.12:g.39143722G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro369Leu	rs1376452319	missense variant	-	NC_000003.12:g.39143719G>A	TOPMed
CSRNP1	Q96S65	p.Pro369Ser	rs1312593045	missense variant	-	NC_000003.12:g.39143720G>A	TOPMed
CSRNP1	Q96S65	p.Asp370Ala	rs1365640405	missense variant	-	NC_000003.12:g.39143716T>G	gnomAD
CSRNP1	Q96S65	p.Pro372Ser	rs764216869	missense variant	-	NC_000003.12:g.39143711G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro372Leu	rs201834210	missense variant	-	NC_000003.12:g.39143710G>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.His374Asn	rs751541215	missense variant	-	NC_000003.12:g.39143705G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.His374Tyr	rs751541215	missense variant	-	NC_000003.12:g.39143705G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro375Ala	rs779358892	missense variant	-	NC_000003.12:g.39143702G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro375Ser	rs779358892	missense variant	-	NC_000003.12:g.39143702G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro375Leu	rs1463409298	missense variant	-	NC_000003.12:g.39143701G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro375Arg	rs1463409298	missense variant	-	NC_000003.12:g.39143701G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly376Arg	rs762753339	missense variant	-	NC_000003.12:g.39143699C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro378Leu	rs527732794	missense variant	-	NC_000003.12:g.39143692G>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly379Ala	rs773094089	missense variant	-	NC_000003.12:g.39143689C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro380Leu	rs1280693638	missense variant	-	NC_000003.12:g.39143686G>A	TOPMed
CSRNP1	Q96S65	p.Pro384Ala	rs769413886	missense variant	-	NC_000003.12:g.39143675G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro384Ser	rs769413886	missense variant	-	NC_000003.12:g.39143675G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly385Ser	rs1193917470	missense variant	-	NC_000003.12:g.39143672C>T	TOPMed
CSRNP1	Q96S65	p.Val386Ile	rs776416873	missense variant	-	NC_000003.12:g.39143669C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val386Asp	rs768319111	missense variant	-	NC_000003.12:g.39143668A>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp387His	rs1432423237	missense variant	-	NC_000003.12:g.39143666C>G	gnomAD
CSRNP1	Q96S65	p.Asp388Gly	rs1320264430	missense variant	-	NC_000003.12:g.39143662T>C	gnomAD
CSRNP1	Q96S65	p.Asp388Asn	rs1363497165	missense variant	-	NC_000003.12:g.39143663C>T	gnomAD
CSRNP1	Q96S65	p.Asp389Asn	rs141310941	missense variant	-	NC_000003.12:g.39143660C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala392Ser	rs546791604	missense variant	-	NC_000003.12:g.39143651C>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala392Pro	rs546791604	missense variant	-	NC_000003.12:g.39143651C>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala392Thr	rs546791604	missense variant	-	NC_000003.12:g.39143651C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg393His	rs200794258	missense variant	-	NC_000003.12:g.39143647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg393Pro	rs200794258	missense variant	-	NC_000003.12:g.39143647C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg393Cys	rs372981794	missense variant	-	NC_000003.12:g.39143648G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile394Val	rs756237813	missense variant	-	NC_000003.12:g.39143645T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Leu395Phe	rs1199797266	missense variant	-	NC_000003.12:g.39143640C>G	gnomAD
CSRNP1	Q96S65	p.Phe397Cys	rs1345154673	missense variant	-	NC_000003.12:g.39143635A>C	gnomAD
CSRNP1	Q96S65	p.Ser398Asn	rs1281789075	missense variant	-	NC_000003.12:g.39143632C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser400Cys	rs752801085	missense variant	-	NC_000003.12:g.39143626G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly403Cys	rs767549459	missense variant	-	NC_000003.12:g.39143618C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly403Ser	rs767549459	missense variant	-	NC_000003.12:g.39143618C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu405Gly	rs1332816359	missense variant	-	NC_000003.12:g.39143611T>C	gnomAD
CSRNP1	Q96S65	p.Glu406Ala	rs762957828	missense variant	-	NC_000003.12:g.39143608T>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu407Asp	rs765144765	missense variant	-	NC_000003.12:g.39143604C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Glu407Lys	rs371907545	missense variant	-	NC_000003.12:g.39143606C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly412Glu	rs201651601	missense variant	-	NC_000003.12:g.39143590C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser413Arg	rs1274957	missense variant	-	NC_000003.12:g.39143586G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser413Asn	rs1250572084	missense variant	-	NC_000003.12:g.39143587C>T	TOPMed
CSRNP1	Q96S65	p.Ser413Arg	rs1274957	missense variant	-	NC_000003.12:g.39143586G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val414Met	rs564965786	missense variant	-	NC_000003.12:g.39143585C>T	1000Genomes
CSRNP1	Q96S65	p.Val414Leu	rs564965786	missense variant	-	NC_000003.12:g.39143585C>A	1000Genomes
CSRNP1	Q96S65	p.Gly415Val	rs1476306227	missense variant	-	NC_000003.12:g.39143581C>A	gnomAD
CSRNP1	Q96S65	p.Gly415Arg	rs1467186702	missense variant	-	NC_000003.12:g.39143582C>G	TOPMed
CSRNP1	Q96S65	p.Asn416Ser	rs775143708	missense variant	-	NC_000003.12:g.39143578T>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp418Gly	rs1435451355	missense variant	-	NC_000003.12:g.39143572T>C	TOPMed
CSRNP1	Q96S65	p.Asn419Ser	rs746445033	missense variant	-	NC_000003.12:g.39143569T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Cys422Tyr	rs771368470	missense variant	-	NC_000003.12:g.39143560C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Cys422Ser	rs771368470	missense variant	-	NC_000003.12:g.39143560C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.His424Tyr	rs749596799	missense variant	-	NC_000003.12:g.39143555G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala426Gly	rs778065909	missense variant	-	NC_000003.12:g.39143548G>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Ile428Leu	rs201626609	missense variant	-	NC_000003.12:g.39143543T>G	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile428Val	rs201626609	missense variant	-	NC_000003.12:g.39143543T>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr431Ser	rs765060518	missense variant	-	NC_000003.12:g.39143534T>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Thr431Ile	rs1356585936	missense variant	-	NC_000003.12:g.39143533G>A	gnomAD
CSRNP1	Q96S65	p.Thr431Ala	rs765060518	missense variant	-	NC_000003.12:g.39143534T>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly435Asp	rs1408137544	missense variant	-	NC_000003.12:g.39143521C>T	gnomAD
CSRNP1	Q96S65	p.Ser439Ile	rs1329835798	missense variant	-	NC_000003.12:g.39143509C>A	gnomAD
CSRNP1	Q96S65	p.Ser439Arg	rs1467262976	missense variant	-	NC_000003.12:g.39143508G>C	gnomAD
CSRNP1	Q96S65	p.Tyr444Cys	rs1162367899	missense variant	-	NC_000003.12:g.39143494T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Tyr444Phe	rs1162367899	missense variant	-	NC_000003.12:g.39143494T>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly446Ser	rs757168166	missense variant	-	NC_000003.12:g.39143489C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Cys447Tyr	rs545087495	missense variant	-	NC_000003.12:g.39143485C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Ser451Leu	rs375066775	missense variant	-	NC_000003.12:g.39143473G>A	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser451Pro	rs572978133	missense variant	-	NC_000003.12:g.39143474A>G	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val453Ile	rs1274958	missense variant	-	NC_000003.12:g.39143468C>T	UniProt,dbSNP
CSRNP1	Q96S65	p.Val453Ile	VAR_055100	missense variant	-	NC_000003.12:g.39143468C>T	UniProt
CSRNP1	Q96S65	p.Val453Ile	rs1274958	missense variant	-	NC_000003.12:g.39143468C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val453Asp	rs1213101242	missense variant	-	NC_000003.12:g.39143467A>T	TOPMed
CSRNP1	Q96S65	p.Ala458Thr	rs1209554803	missense variant	-	NC_000003.12:g.39143453C>T	gnomAD
CSRNP1	Q96S65	p.Asn459Ser	rs1335890339	missense variant	-	NC_000003.12:g.39143449T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser463Asn	rs199812367	missense variant	-	NC_000003.12:g.39143437C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser463Arg	rs1261722861	missense variant	-	NC_000003.12:g.39143436G>C	TOPMed
CSRNP1	Q96S65	p.Cys464Arg	rs1227058302	missense variant	-	NC_000003.12:g.39143435A>G	gnomAD
CSRNP1	Q96S65	p.Cys464Tyr	rs1350000799	missense variant	-	NC_000003.12:g.39143434C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Cys464Ser	rs1350000799	missense variant	-	NC_000003.12:g.39143434C>G	TOPMed,gnomAD
CSRNP1	Q96S65	p.Phe465Ile	rs749757279	missense variant	-	NC_000003.12:g.39143432A>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly468Asp	rs1348301356	missense variant	-	NC_000003.12:g.39143422C>T	gnomAD
CSRNP1	Q96S65	p.Gly468Ser	rs1196358589	missense variant	-	NC_000003.12:g.39143423C>T	TOPMed
CSRNP1	Q96S65	p.Gly469Asp	rs1461828287	missense variant	-	NC_000003.12:g.39143419C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly472Glu	rs770126733	missense variant	-	NC_000003.12:g.39143410C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly472Val	rs770126733	missense variant	-	NC_000003.12:g.39143410C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser473Leu	rs969780411	missense variant	-	NC_000003.12:g.39143407G>A	TOPMed
CSRNP1	Q96S65	p.Ser477Asn	rs755131354	missense variant	-	NC_000003.12:g.39143395C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu478Phe	rs147162469	missense variant	-	NC_000003.12:g.39143393G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Leu478Phe	RCV000144229	missense variant	-	NC_000003.12:g.39143393G>A	ClinVar
CSRNP1	Q96S65	p.Thr481Ile	rs757146156	missense variant	-	NC_000003.12:g.39143383G>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser482Leu	rs764039494	missense variant	-	NC_000003.12:g.39143380G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser482Ter	rs764039494	stop gained	-	NC_000003.12:g.39143380G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val483Leu	rs752439836	missense variant	-	NC_000003.12:g.39143378C>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Val483Met	rs752439836	missense variant	-	NC_000003.12:g.39143378C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Pro484Leu	rs1232917006	missense variant	-	NC_000003.12:g.39143374G>A	TOPMed
CSRNP1	Q96S65	p.Pro484Ala	rs371134715	missense variant	-	NC_000003.12:g.39143375G>C	ESP,ExAC,gnomAD
CSRNP1	Q96S65	p.Pro484Ser	rs371134715	missense variant	-	NC_000003.12:g.39143375G>A	ESP,ExAC,gnomAD
CSRNP1	Q96S65	p.Ser486Arg	rs1225596715	missense variant	-	NC_000003.12:g.39143369T>G	gnomAD
CSRNP1	Q96S65	p.Ser486Ile	rs759182414	missense variant	-	NC_000003.12:g.39143368C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Met487Val	rs1274527414	missense variant	-	NC_000003.12:g.39143366T>C	gnomAD
CSRNP1	Q96S65	p.Asp488Glu	rs763468626	missense variant	-	NC_000003.12:g.39143361G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp488Gly	rs773768262	missense variant	-	NC_000003.12:g.39143362T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Ala489Val	rs145148130	missense variant	-	NC_000003.12:g.39143359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala489Gly	rs145148130	missense variant	-	NC_000003.12:g.39143359G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala489Thr	rs1213805679	missense variant	-	NC_000003.12:g.39143360C>T	TOPMed
CSRNP1	Q96S65	p.Gly490Asp	rs1456644721	missense variant	-	NC_000003.12:g.39143356C>T	gnomAD
CSRNP1	Q96S65	p.Arg491Gln	rs199566978	missense variant	-	NC_000003.12:g.39143353C>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Arg491Trp	rs748487431	missense variant	-	NC_000003.12:g.39143354G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser494Leu	rs1255862857	missense variant	-	NC_000003.12:g.39143344G>A	TOPMed
CSRNP1	Q96S65	p.Leu499Phe	rs377548334	missense variant	-	NC_000003.12:g.39143328C>G	ESP,gnomAD
CSRNP1	Q96S65	p.Ser500Phe	rs1455264417	missense variant	-	NC_000003.12:g.39143326G>A	gnomAD
CSRNP1	Q96S65	p.Asp503Gly	rs747186948	missense variant	-	NC_000003.12:g.39143317T>C	ExAC,gnomAD
CSRNP1	Q96S65	p.Phe505Leu	rs558531976	missense variant	-	NC_000003.12:g.39143310A>T	1000Genomes
CSRNP1	Q96S65	p.Glu506Ala	rs1415582009	missense variant	-	NC_000003.12:g.39143308T>G	TOPMed
CSRNP1	Q96S65	p.Tyr514Phe	rs1218523455	missense variant	-	NC_000003.12:g.39143284T>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser515Thr	rs768820347	missense variant	-	NC_000003.12:g.39143281C>G	TOPMed
CSRNP1	Q96S65	p.Leu516Met	rs780011728	missense variant	-	NC_000003.12:g.39143279G>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Gly517Arg	rs913212988	missense variant	-	NC_000003.12:g.39143276C>G	TOPMed
CSRNP1	Q96S65	p.Pro518Thr	rs538715292	missense variant	-	NC_000003.12:g.39143273G>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Pro518Ser	rs538715292	missense variant	-	NC_000003.12:g.39143273G>A	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Gln523Pro	rs1295147315	missense variant	-	NC_000003.12:g.39143257T>G	gnomAD
CSRNP1	Q96S65	p.Ser526Thr	rs1290599589	missense variant	-	NC_000003.12:g.39143249A>T	gnomAD
CSRNP1	Q96S65	p.Asp527Gly	rs1445699545	missense variant	-	NC_000003.12:g.39143245T>C	gnomAD
CSRNP1	Q96S65	p.Ser528Thr	rs756024543	missense variant	-	NC_000003.12:g.39143242C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser528Asn	rs756024543	missense variant	-	NC_000003.12:g.39143242C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile532Val	rs1312908010	missense variant	-	NC_000003.12:g.39143231T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Ile532Met	rs372252051	missense variant	-	NC_000003.12:g.39143229G>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu533Lys	rs1167568904	missense variant	-	NC_000003.12:g.39143228C>T	gnomAD
CSRNP1	Q96S65	p.Glu533Gly	rs1428337873	missense variant	-	NC_000003.12:g.39143227T>C	gnomAD
CSRNP1	Q96S65	p.Pro535Leu	rs781003783	missense variant	-	NC_000003.12:g.39143221G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.His536Arg	rs1188823766	missense variant	-	NC_000003.12:g.39143218T>C	gnomAD
CSRNP1	Q96S65	p.Phe537Leu	rs754593845	missense variant	-	NC_000003.12:g.39143214G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Phe537Leu	rs754593845	missense variant	-	NC_000003.12:g.39143214G>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Gly541Ala	rs1486686309	missense variant	-	NC_000003.12:g.39143203C>G	gnomAD
CSRNP1	Q96S65	p.Gly541Ser	rs201765293	missense variant	-	NC_000003.12:g.39143204C>T	1000Genomes,ExAC,gnomAD
CSRNP1	Q96S65	p.Leu542Pro	rs762414194	missense variant	-	NC_000003.12:g.39143200A>G	ExAC,gnomAD
CSRNP1	Q96S65	p.Ser543Phe	rs1354977825	missense variant	-	NC_000003.12:g.39143197G>A	TOPMed
CSRNP1	Q96S65	p.Pro544Leu	rs1226565729	missense variant	-	NC_000003.12:g.39143194G>A	gnomAD
CSRNP1	Q96S65	p.Gly546Arg	rs1219438525	missense variant	-	NC_000003.12:g.39143189C>T	TOPMed
CSRNP1	Q96S65	p.Gly546Ala	rs1016123717	missense variant	-	NC_000003.12:g.39143188C>G	gnomAD
CSRNP1	Q96S65	p.Gly546Glu	rs1016123717	missense variant	-	NC_000003.12:g.39143188C>T	gnomAD
CSRNP1	Q96S65	p.Phe552Ser	rs762266789	missense variant	-	NC_000003.12:g.39143170A>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser555Phe	rs990113401	missense variant	-	NC_000003.12:g.39143161G>A	TOPMed
CSRNP1	Q96S65	p.Ser560Pro	rs201069132	missense variant	-	NC_000003.12:g.39143147A>G	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu561Lys	rs577008244	missense variant	-	NC_000003.12:g.39143144C>T	gnomAD
CSRNP1	Q96S65	p.Pro562Ser	rs868231312	missense variant	-	NC_000003.12:g.39143141G>A	gnomAD
CSRNP1	Q96S65	p.Ala564Pro	rs112383054	missense variant	-	NC_000003.12:g.39143135C>G	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala564Thr	rs112383054	missense variant	-	NC_000003.12:g.39143135C>T	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu565Lys	rs1195460382	missense variant	-	NC_000003.12:g.39143132C>T	TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu565Ter	rs1195460382	stop gained	-	NC_000003.12:g.39143132C>A	TOPMed,gnomAD
CSRNP1	Q96S65	p.Glu565Gly	rs1440306652	missense variant	-	NC_000003.12:g.39143131T>C	TOPMed
CSRNP1	Q96S65	p.Ala566Val	rs1024021437	missense variant	-	NC_000003.12:g.39143128G>A	TOPMed
CSRNP1	Q96S65	p.Leu567Arg	rs1252855900	missense variant	-	NC_000003.12:g.39143125A>C	gnomAD
CSRNP1	Q96S65	p.Asp568Tyr	rs780866317	missense variant	-	NC_000003.12:g.39143123C>A	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp568Asn	rs780866317	missense variant	-	NC_000003.12:g.39143123C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Asp572Glu	rs1001697783	missense variant	-	NC_000003.12:g.39143109G>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Asp572Asn	rs1377735772	missense variant	-	NC_000003.12:g.39143111C>T	TOPMed
CSRNP1	Q96S65	p.Phe575Ser	rs1013929707	missense variant	-	NC_000003.12:g.39143101A>G	TOPMed
CSRNP1	Q96S65	p.Phe575Val	rs1235040749	missense variant	-	NC_000003.12:g.39143102A>C	gnomAD
CSRNP1	Q96S65	p.Thr578Ala	rs368077080	missense variant	-	NC_000003.12:g.39143093T>C	ESP,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala581Pro	rs751206841	missense variant	-	NC_000003.12:g.39143084C>G	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ala581Thr	rs751206841	missense variant	-	NC_000003.12:g.39143084C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser582Cys	rs202204996	missense variant	-	NC_000003.12:g.39143080G>C	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser582Tyr	rs202204996	missense variant	-	NC_000003.12:g.39143080G>T	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Ser582Phe	rs202204996	missense variant	-	NC_000003.12:g.39143080G>A	1000Genomes,ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Met584Ile	rs762320018	missense variant	-	NC_000003.12:g.39143073C>T	ExAC,gnomAD
CSRNP1	Q96S65	p.Met584Val	rs1463426097	missense variant	-	NC_000003.12:g.39143075T>C	TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro586Leu	rs1181089321	missense variant	-	NC_000003.12:g.39143068G>A	gnomAD
CSRNP1	Q96S65	p.Val587Met	rs1458706673	missense variant	-	NC_000003.12:g.39143066C>T	TOPMed
CSRNP1	Q96S65	p.Pro588Leu	rs764432988	missense variant	-	NC_000003.12:g.39143062G>A	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Pro588Arg	rs764432988	missense variant	-	NC_000003.12:g.39143062G>C	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val589Met	rs772447030	missense variant	-	NC_000003.12:g.39143060C>T	ExAC,TOPMed,gnomAD
CSRNP1	Q96S65	p.Val589Ala	rs1467909172	missense variant	-	NC_000003.12:g.39143059A>G	gnomAD
GAD1	Q99259	p.Ala2Glu	rs769768841	missense variant	-	NC_000002.12:g.170818596C>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ser4Leu	rs1171048529	missense variant	-	NC_000002.12:g.170818602C>T	TOPMed,gnomAD
GAD1	Q99259	p.Pro6Leu	RCV000311175	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170818608C>T	ClinVar
GAD1	Q99259	p.Pro6Leu	rs886055098	missense variant	-	NC_000002.12:g.170818608C>T	-
GAD1	Q99259	p.Ser7Pro	rs1362185333	missense variant	-	NC_000002.12:g.170818610T>C	TOPMed
GAD1	Q99259	p.Ser8Trp	rs1374670478	missense variant	-	NC_000002.12:g.170818614C>G	gnomAD
GAD1	Q99259	p.Ser8Leu	rs1374670478	missense variant	-	NC_000002.12:g.170818614C>T	gnomAD
GAD1	Q99259	p.Ala10Ser	rs775717691	missense variant	-	NC_000002.12:g.170818619G>T	ExAC,gnomAD
GAD1	Q99259	p.Thr11Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170818623C>T	NCI-TCGA
GAD1	Q99259	p.Ser12Cys	RCV000005363	missense variant	Cerebral palsy, spastic quadriplegic, 1 (CPSQ1)	NC_000002.12:g.170818626C>G	ClinVar
GAD1	Q99259	p.Ser12Thr	rs149074954	missense variant	-	NC_000002.12:g.170818625T>A	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ser12Phe	rs121918345	missense variant	Cerebral palsy, spastic quadriplegic, 1 (cpsq1)	NC_000002.12:g.170818626C>T	ExAC,gnomAD
GAD1	Q99259	p.Ser12Cys	rs121918345	missense variant	Cerebral palsy, spastic quadriplegic 1 (CPSQ1)	NC_000002.12:g.170818626C>G	UniProt,dbSNP
GAD1	Q99259	p.Ser12Cys	VAR_031021	missense variant	Cerebral palsy, spastic quadriplegic 1 (CPSQ1)	NC_000002.12:g.170818626C>G	UniProt
GAD1	Q99259	p.Ser12Cys	rs121918345	missense variant	Cerebral palsy, spastic quadriplegic, 1 (cpsq1)	NC_000002.12:g.170818626C>G	ExAC,gnomAD
GAD1	Q99259	p.Ser13Trp	COSM4822568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170818629C>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Asn14Thr	rs776901218	missense variant	-	NC_000002.12:g.170818632A>C	ExAC,gnomAD
GAD1	Q99259	p.Ala15Val	rs762380299	missense variant	-	NC_000002.12:g.170818635C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ala15Pro	rs1298191081	missense variant	-	NC_000002.12:g.170818634G>C	gnomAD
GAD1	Q99259	p.Ala17Pro	rs1049731	missense variant	-	NC_000002.12:g.170818640G>C	TOPMed
GAD1	Q99259	p.Ala17Val	rs1273863798	missense variant	-	NC_000002.12:g.170818641C>T	gnomAD
GAD1	Q99259	p.Ala17Thr	rs1049731	missense variant	-	NC_000002.12:g.170818640G>A	TOPMed
GAD1	Q99259	p.Asp18Glu	rs758731063	missense variant	-	NC_000002.12:g.170818645C>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Pro19Ser	COSM3569946	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170818646C>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Asn20GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.170818644_170818645insC	NCI-TCGA
GAD1	Q99259	p.Asn20Ser	rs766656844	missense variant	-	NC_000002.12:g.170818650A>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Thr21Ile	rs1486326172	missense variant	-	NC_000002.12:g.170818653C>T	gnomAD
GAD1	Q99259	p.Thr22Ala	rs961885637	missense variant	-	NC_000002.12:g.170818655A>G	TOPMed
GAD1	Q99259	p.Leu24Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170818661C>A	NCI-TCGA
GAD1	Q99259	p.Pro26Ala	rs754605789	missense variant	-	NC_000002.12:g.170818667C>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Pro26Ser	rs754605789	missense variant	-	NC_000002.12:g.170818667C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Thr27Ser	rs1476772814	missense variant	-	NC_000002.12:g.170818670A>T	gnomAD
GAD1	Q99259	p.Thr27Lys	rs77655188	missense variant	-	NC_000002.12:g.170818671C>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Thr28Lys	rs1236349619	missense variant	-	NC_000002.12:g.170822087C>A	gnomAD
GAD1	Q99259	p.Thr28Met	COSM3694978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170822087C>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Tyr29His	rs771381936	missense variant	-	NC_000002.12:g.170822089T>C	ExAC,gnomAD
GAD1	Q99259	p.Asp30Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170822093A>G	NCI-TCGA
GAD1	Q99259	p.Asp30Tyr	rs112046206	missense variant	-	NC_000002.12:g.170822092G>T	gnomAD
GAD1	Q99259	p.Asp30Glu	rs1397300359	missense variant	-	NC_000002.12:g.170822094T>A	gnomAD
GAD1	Q99259	p.Asp30Asn	rs112046206	missense variant	-	NC_000002.12:g.170822092G>A	gnomAD
GAD1	Q99259	p.Thr31Ile	rs1413245027	missense variant	-	NC_000002.12:g.170822096C>T	gnomAD
GAD1	Q99259	p.Gly34Ser	rs1355181677	missense variant	-	NC_000002.12:g.170822104G>A	gnomAD
GAD1	Q99259	p.Val35Met	rs987723157	missense variant	-	NC_000002.12:g.170822107G>A	TOPMed
GAD1	Q99259	p.Ala36Val	rs752308335	missense variant	-	NC_000002.12:g.170822111C>T	ExAC
GAD1	Q99259	p.Ala36Thr	rs767875112	missense variant	-	NC_000002.12:g.170822110G>A	ExAC,gnomAD
GAD1	Q99259	p.Gly38Val	rs763572976	missense variant	-	NC_000002.12:g.170822117G>T	ExAC,gnomAD
GAD1	Q99259	p.Gly38Glu	rs763572976	missense variant	-	NC_000002.12:g.170822117G>A	ExAC,gnomAD
GAD1	Q99259	p.Cys39Tyr	rs1303846577	missense variant	-	NC_000002.12:g.170822120G>A	gnomAD
GAD1	Q99259	p.Lys42Glu	COSM3569948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170822128A>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Gly44Arg	rs757217369	missense variant	-	NC_000002.12:g.170822134G>C	ExAC,gnomAD
GAD1	Q99259	p.Leu45Ile	rs1277897374	missense variant	-	NC_000002.12:g.170822137C>A	gnomAD
GAD1	Q99259	p.Leu45Val	COSM4842897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170822137C>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Lys46Arg	rs778777603	missense variant	-	NC_000002.12:g.170822141A>G	ExAC,gnomAD
GAD1	Q99259	p.Cys48Ser	rs750389927	missense variant	-	NC_000002.12:g.170822147G>C	ExAC,gnomAD
GAD1	Q99259	p.Gly49Ala	rs1167204443	missense variant	-	NC_000002.12:g.170829475G>C	TOPMed,gnomAD
GAD1	Q99259	p.Gly49Ser	rs1238959934	missense variant	-	NC_000002.12:g.170822149G>A	TOPMed
GAD1	Q99259	p.Phe50Leu	rs749536845	missense variant	-	NC_000002.12:g.170829479C>G	ExAC,gnomAD
GAD1	Q99259	p.Phe50Val	COSM4919241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170829477T>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Arg53Gly	COSM441492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170829486A>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Asn55Ser	rs1322594710	missense variant	-	NC_000002.12:g.170829493A>G	gnomAD
GAD1	Q99259	p.Glu58Gly	rs1276303274	missense variant	-	NC_000002.12:g.170829502A>G	gnomAD
GAD1	Q99259	p.Glu59Asp	rs138838552	missense variant	-	NC_000002.12:g.170829506G>C	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Glu59Gln	rs779072937	missense variant	-	NC_000002.12:g.170829504G>C	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Glu59Asp	rs138838552	missense variant	-	NC_000002.12:g.170829506G>T	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Lys60Asn	rs886412887	missense variant	-	NC_000002.12:g.170829509G>C	TOPMed
GAD1	Q99259	p.Arg62Cys	rs548422399	missense variant	-	NC_000002.12:g.170829513C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg62His	rs375730988	missense variant	-	NC_000002.12:g.170829514G>A	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Leu63Pro	rs1208917279	missense variant	-	NC_000002.12:g.170829517T>C	gnomAD
GAD1	Q99259	p.Val64Met	rs1215875151	missense variant	-	NC_000002.12:g.170829519G>A	TOPMed,gnomAD
GAD1	Q99259	p.Val64Leu	rs1215875151	missense variant	-	NC_000002.12:g.170829519G>C	TOPMed,gnomAD
GAD1	Q99259	p.Val64Ala	rs1285353478	missense variant	-	NC_000002.12:g.170829520T>C	gnomAD
GAD1	Q99259	p.Ser65Asn	rs1316488270	missense variant	-	NC_000002.12:g.170829523G>A	TOPMed
GAD1	Q99259	p.Phe67Leu	rs1219540340	missense variant	-	NC_000002.12:g.170829530C>G	TOPMed
GAD1	Q99259	p.Lys68Arg	rs112605975	missense variant	-	NC_000002.12:g.170829532A>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Glu69Asp	rs1184983581	missense variant	-	NC_000002.12:g.170829536G>C	TOPMed,gnomAD
GAD1	Q99259	p.Arg70Lys	rs1475821513	missense variant	-	NC_000002.12:g.170829538G>A	gnomAD
GAD1	Q99259	p.Arg70Trp	rs761555669	missense variant	-	NC_000002.12:g.170829537A>T	ExAC,gnomAD
GAD1	Q99259	p.Arg70Thr	rs1475821513	missense variant	-	NC_000002.12:g.170829538G>C	gnomAD
GAD1	Q99259	p.Gln71Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.170829540C>T	NCI-TCGA
GAD1	Q99259	p.Lys74Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170829551G>T	NCI-TCGA
GAD1	Q99259	p.Lys74Asn	COSM1647100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170829551G>C	NCI-TCGA Cosmic
GAD1	Q99259	p.Asn75His	rs1366823311	missense variant	-	NC_000002.12:g.170829552A>C	TOPMed,gnomAD
GAD1	Q99259	p.Asn75Ser	rs1399330650	missense variant	-	NC_000002.12:g.170829553A>G	TOPMed
GAD1	Q99259	p.Leu77Pro	rs764600514	missense variant	-	NC_000002.12:g.170829559T>C	ExAC,gnomAD
GAD1	Q99259	p.Ser78Phe	rs1171125027	missense variant	-	NC_000002.12:g.170829562C>T	TOPMed
GAD1	Q99259	p.Asn81Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170829571A>G	NCI-TCGA
GAD1	Q99259	p.Asn81Lys	rs762948682	missense variant	-	NC_000002.12:g.170829572C>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Asn81Lys	rs762948682	missense variant	-	NC_000002.12:g.170829572C>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ser82Gly	rs1439422597	missense variant	-	NC_000002.12:g.170829573A>G	gnomAD
GAD1	Q99259	p.Asp83Asn	rs200808732	missense variant	-	NC_000002.12:g.170829576G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Asp83Glu	rs201750984	missense variant	-	NC_000002.12:g.170829578C>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg84Trp	rs753959745	missense variant	-	NC_000002.12:g.170829579C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg84Pro	rs200092679	missense variant	-	NC_000002.12:g.170829580G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg84Gln	rs200092679	missense variant	-	NC_000002.12:g.170829580G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Asp85Asn	rs778827123	missense variant	-	NC_000002.12:g.170829582G>A	ExAC,gnomAD
GAD1	Q99259	p.Arg87Cys	rs746017851	missense variant	-	NC_000002.12:g.170829588C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg87His	rs201232271	missense variant	-	NC_000002.12:g.170829589G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Phe88Leu	rs1355418981	missense variant	-	NC_000002.12:g.170829591T>C	gnomAD
GAD1	Q99259	p.Arg89Trp	RCV000406269	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170829594C>T	ClinVar
GAD1	Q99259	p.Arg89Trp	rs150841255	missense variant	-	NC_000002.12:g.170829594C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg89Gly	rs150841255	missense variant	-	NC_000002.12:g.170829594C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg89Gln	rs201233553	missense variant	-	NC_000002.12:g.170829595G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg90Cys	RCV000314483	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170829597C>T	ClinVar
GAD1	Q99259	p.Arg90Ser	rs373042715	missense variant	-	NC_000002.12:g.170829597C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg90Cys	rs373042715	missense variant	-	NC_000002.12:g.170829597C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg90His	rs372095902	missense variant	-	NC_000002.12:g.170829598G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Leu104Phe	rs1463708224	missense variant	-	NC_000002.12:g.170830955C>T	TOPMed,gnomAD
GAD1	Q99259	p.Pro105Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170830958C>T	NCI-TCGA
GAD1	Q99259	p.Pro105Leu	rs1330345105	missense variant	-	NC_000002.12:g.170830959C>T	gnomAD
GAD1	Q99259	p.Gly109Ser	rs191940314	missense variant	-	NC_000002.12:g.170830970G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Gly109Asp	rs1228823911	missense variant	-	NC_000002.12:g.170830971G>A	TOPMed,gnomAD
GAD1	Q99259	p.Glu110Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170830973G>A	NCI-TCGA
GAD1	Q99259	p.Gln112Glu	rs1260039996	missense variant	-	NC_000002.12:g.170830979C>G	gnomAD
GAD1	Q99259	p.Val114Met	rs372972664	missense variant	-	NC_000002.12:g.170830985G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Gln115His	COSM70859	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170830990A>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Val121Ala	rs895746380	missense variant	-	NC_000002.12:g.170831007T>C	gnomAD
GAD1	Q99259	p.Asp122Asn	rs766422631	missense variant	-	NC_000002.12:g.170831009G>A	ExAC,gnomAD
GAD1	Q99259	p.Asp122Tyr	COSM268398	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831009G>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Ile123Val	rs1206791288	missense variant	-	NC_000002.12:g.170831012A>G	TOPMed
GAD1	Q99259	p.Asn126Ser	rs751697200	missense variant	-	NC_000002.12:g.170831022A>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Tyr127Phe	RCV000352921	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170831025A>T	ClinVar
GAD1	Q99259	p.Tyr127Phe	rs141004978	missense variant	-	NC_000002.12:g.170831025A>T	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg129Ser	rs779472420	missense variant	-	NC_000002.12:g.170831030C>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg129Pro	rs748927904	missense variant	-	NC_000002.12:g.170831031G>C	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg129Gly	rs779472420	missense variant	-	NC_000002.12:g.170831030C>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg129Cys	rs779472420	missense variant	-	NC_000002.12:g.170831030C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg129His	rs748927904	missense variant	-	NC_000002.12:g.170831031G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Thr131Ile	rs1326457415	missense variant	-	NC_000002.12:g.170831037C>T	TOPMed
GAD1	Q99259	p.Phe132Tyr	rs376982509	missense variant	-	NC_000002.12:g.170831040T>A	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Phe132Ser	rs376982509	missense variant	-	NC_000002.12:g.170831040T>C	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Asp133His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170831042G>C	NCI-TCGA
GAD1	Q99259	p.Asp133Val	rs771498866	missense variant	-	NC_000002.12:g.170831043A>T	ExAC
GAD1	Q99259	p.Arg134Cys	rs150945113	missense variant	-	NC_000002.12:g.170831045C>T	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg134His	rs768394289	missense variant	-	NC_000002.12:g.170831046G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ser135Pro	rs1218015372	missense variant	-	NC_000002.12:g.170831048T>C	gnomAD
GAD1	Q99259	p.Val138Leu	rs769110394	missense variant	-	NC_000002.12:g.170831057G>T	-
GAD1	Q99259	p.His142Asn	rs1219702587	missense variant	-	NC_000002.12:g.170831069C>A	gnomAD
GAD1	Q99259	p.His143Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170831074C>G	NCI-TCGA
GAD1	Q99259	p.Leu148Pro	rs1217235033	missense variant	-	NC_000002.12:g.170831088T>C	TOPMed,gnomAD
GAD1	Q99259	p.Met151Thr	rs1265179873	missense variant	-	NC_000002.12:g.170831097T>C	gnomAD
GAD1	Q99259	p.Met151Ile	rs367625270	missense variant	-	NC_000002.12:g.170831098G>A	ESP,TOPMed
GAD1	Q99259	p.Asn155Thr	COSM4086712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831109A>C	NCI-TCGA Cosmic
GAD1	Q99259	p.Leu156Val	COSM4086714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831111T>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Leu158Val	rs753205603	missense variant	-	NC_000002.12:g.170831117C>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Asp160Gly	rs914667678	missense variant	-	NC_000002.12:g.170831124A>G	TOPMed
GAD1	Q99259	p.His161Tyr	rs551258454	missense variant	-	NC_000002.12:g.170831126C>T	1000Genomes
GAD1	Q99259	p.Pro162Leu	rs374413832	missense variant	-	NC_000002.12:g.170831130C>T	ESP,TOPMed
GAD1	Q99259	p.Pro162Ser	rs145603819	missense variant	-	NC_000002.12:g.170831129C>T	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Pro162His	rs374413832	missense variant	-	NC_000002.12:g.170831130C>A	ESP,TOPMed
GAD1	Q99259	p.Pro162Ala	rs145603819	missense variant	-	NC_000002.12:g.170831129C>G	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Glu163Lys	rs868362629	missense variant	-	NC_000002.12:g.170831132G>A	-
GAD1	Q99259	p.Glu166Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170831141G>C	NCI-TCGA
GAD1	Q99259	p.Thr175Ile	rs778652011	missense variant	-	NC_000002.12:g.170831169C>T	ExAC,gnomAD
GAD1	Q99259	p.Leu176Met	COSM3569952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831171T>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Gly179Ala	COSM3569954	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170831181G>C	NCI-TCGA Cosmic
GAD1	Q99259	p.Arg181His	rs141910612	missense variant	-	NC_000002.12:g.170831187G>A	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg181Cys	rs1271415571	missense variant	-	NC_000002.12:g.170831186C>T	TOPMed
GAD1	Q99259	p.Gly183Ser	rs111361241	missense variant	-	NC_000002.12:g.170831192G>A	-
GAD1	Q99259	p.Arg186Leu	rs1457914841	missense variant	-	NC_000002.12:g.170836802G>T	gnomAD
GAD1	Q99259	p.Arg186Gln	COSM1647098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170836802G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Leu191Phe	rs1206672606	missense variant	-	NC_000002.12:g.170836816C>T	TOPMed
GAD1	Q99259	p.Ile197Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170836835T>G	NCI-TCGA
GAD1	Q99259	p.Trp204Arg	rs1224781502	missense variant	-	NC_000002.12:g.170836855T>C	gnomAD
GAD1	Q99259	p.Leu205Val	rs779581841	missense variant	-	NC_000002.12:g.170836858C>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Thr208Met	rs754891860	missense variant	-	NC_000002.12:g.170836868C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ala209Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170836871C>T	NCI-TCGA
GAD1	Q99259	p.Ala209Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170836870G>A	NCI-TCGA
GAD1	Q99259	p.Met213Thr	rs1175389478	missense variant	-	NC_000002.12:g.170836883T>C	gnomAD
GAD1	Q99259	p.Tyr216His	rs756066322	missense variant	-	NC_000002.12:g.170844052T>C	ExAC,gnomAD
GAD1	Q99259	p.Tyr216Ter	rs756971067	stop gained	-	NC_000002.12:g.170844054T>A	-
GAD1	Q99259	p.Glu217Gly	COSM1009464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844056A>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Glu217Lys	COSM3895342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844055G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Pro220Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170844065C>T	NCI-TCGA
GAD1	Q99259	p.Pro220Thr	rs1353823088	missense variant	-	NC_000002.12:g.170844064C>A	gnomAD
GAD1	Q99259	p.Phe222Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170844071T>C	NCI-TCGA
GAD1	Q99259	p.Leu224Phe	rs1287213373	missense variant	-	NC_000002.12:g.170844076C>T	gnomAD
GAD1	Q99259	p.Met225Ile	COSM3990749	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844081G>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Met225Val	COSM4086717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844079A>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Gln227Lys	rs1215136344	missense variant	-	NC_000002.12:g.170844085C>A	gnomAD
GAD1	Q99259	p.Ile228Leu	rs45566933	missense variant	-	NC_000002.12:g.170844088A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ile228Leu	RCV000299319	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170844088A>C	ClinVar
GAD1	Q99259	p.Ile228Leu	RCV000422631	missense variant	-	NC_000002.12:g.170844088A>C	ClinVar
GAD1	Q99259	p.Lys231Glu	rs753819814	missense variant	-	NC_000002.12:g.170844097A>G	ExAC,gnomAD
GAD1	Q99259	p.Lys231Met	COSM6088378	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844098A>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Met233Ile	COSM6154766	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844105G>C	NCI-TCGA Cosmic
GAD1	Q99259	p.Arg234Gly	rs756964109	missense variant	-	NC_000002.12:g.170844106A>G	ExAC,gnomAD
GAD1	Q99259	p.Ile236Thr	rs1162643446	missense variant	-	NC_000002.12:g.170844113T>C	gnomAD
GAD1	Q99259	p.Val237Ala	rs548295575	missense variant	-	NC_000002.12:g.170844116T>C	1000Genomes,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Gly238Glu	COSM6154765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170844119G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Ser240Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170844125C>T	NCI-TCGA
GAD1	Q99259	p.Ser240Pro	rs1421414042	missense variant	-	NC_000002.12:g.170844124T>C	TOPMed,gnomAD
GAD1	Q99259	p.Asp243Gly	rs1281844740	missense variant	-	NC_000002.12:g.170844134A>G	TOPMed
GAD1	Q99259	p.Gly246Glu	rs755294507	missense variant	-	NC_000002.12:g.170844143G>A	ExAC,gnomAD
GAD1	Q99259	p.Ile247Val	rs781413601	missense variant	-	NC_000002.12:g.170844145A>G	ExAC,gnomAD
GAD1	Q99259	p.Ser249Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170844152C>A	NCI-TCGA
GAD1	Q99259	p.Pro250Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170844155C>T	NCI-TCGA
GAD1	Q99259	p.Gly252Asp	rs749735425	missense variant	-	NC_000002.12:g.170845509G>A	ExAC,gnomAD
GAD1	Q99259	p.Gly252Cys	COSM3569958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845508G>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Ala253Thr	COSM208043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845511G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Ile254Met	rs772431542	missense variant	-	NC_000002.12:g.170845516A>G	ExAC,gnomAD
GAD1	Q99259	p.Ser255Cys	COSM3569959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845518C>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Met257Ile	rs956461027	missense variant	-	NC_000002.12:g.170845525G>A	TOPMed,gnomAD
GAD1	Q99259	p.Met257Ile	rs956461027	missense variant	-	NC_000002.12:g.170845525G>C	TOPMed,gnomAD
GAD1	Q99259	p.Tyr258Ter	rs774967412	stop gained	-	NC_000002.12:g.170845528C>G	ExAC,gnomAD
GAD1	Q99259	p.Tyr258Cys	rs1433666654	missense variant	-	NC_000002.12:g.170845527A>G	gnomAD
GAD1	Q99259	p.Ser259Gly	rs760398831	missense variant	-	NC_000002.12:g.170845529A>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Met261Val	rs763492866	missense variant	-	NC_000002.12:g.170845535A>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ala262Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170845539C>T	NCI-TCGA
GAD1	Q99259	p.Arg264His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170845545G>A	NCI-TCGA
GAD1	Q99259	p.Arg264Cys	rs761656256	missense variant	-	NC_000002.12:g.170845544C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Tyr265Cys	rs1463756751	missense variant	-	NC_000002.12:g.170845548A>G	gnomAD
GAD1	Q99259	p.Tyr265His	rs1295462042	missense variant	-	NC_000002.12:g.170845547T>C	TOPMed
GAD1	Q99259	p.Phe268Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170845556T>C	NCI-TCGA
GAD1	Q99259	p.Val271Ile	rs148633602	missense variant	-	NC_000002.12:g.170845565G>A	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Lys272Asn	rs1219260245	missense variant	-	NC_000002.12:g.170845570G>C	gnomAD
GAD1	Q99259	p.Lys272Arg	rs752812272	missense variant	-	NC_000002.12:g.170845569A>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Thr273Ser	rs756406233	missense variant	-	NC_000002.12:g.170845571A>T	ExAC,gnomAD
GAD1	Q99259	p.Thr273Lys	rs777683337	missense variant	-	NC_000002.12:g.170845572C>A	ExAC,gnomAD
GAD1	Q99259	p.Lys274Asn	rs757342630	missense variant	-	NC_000002.12:g.170845576G>T	ExAC,gnomAD
GAD1	Q99259	p.Met276Val	rs1488718310	missense variant	-	NC_000002.12:g.170845580A>G	gnomAD
GAD1	Q99259	p.Met276Thr	rs1328989300	missense variant	-	NC_000002.12:g.170845581T>C	TOPMed
GAD1	Q99259	p.Ala277Val	rs143319979	missense variant	-	NC_000002.12:g.170845584C>T	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ala278Thr	COSM1401228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845586G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Pro280Leu	rs1490174596	missense variant	-	NC_000002.12:g.170845593C>T	gnomAD
GAD1	Q99259	p.Val283Ala	rs1475414595	missense variant	-	NC_000002.12:g.170845602T>C	TOPMed
GAD1	Q99259	p.Val283Gly	COSM1009465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845602T>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Leu284Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170845604C>A	NCI-TCGA
GAD1	Q99259	p.Leu284Phe	rs780519382	missense variant	-	NC_000002.12:g.170845604C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Leu284Pro	rs746613477	missense variant	-	NC_000002.12:g.170845605T>C	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Phe285Leu	rs1369401326	missense variant	-	NC_000002.12:g.170845607T>C	TOPMed,gnomAD
GAD1	Q99259	p.Thr286Ile	rs775995716	missense variant	-	NC_000002.12:g.170845611C>T	ExAC,gnomAD
GAD1	Q99259	p.Glu288Lys	COSM4825271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170845616G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Gln289Glu	rs1181224255	missense variant	-	NC_000002.12:g.170845619C>G	TOPMed
GAD1	Q99259	p.Gln289Ter	RCV000685355	nonsense	Cerebral palsy, spastic quadriplegic, 1 (CPSQ1)	NC_000002.12:g.170845619C>T	ClinVar
GAD1	Q99259	p.Ser290Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170845706A>T	NCI-TCGA
GAD1	Q99259	p.Tyr292Cys	rs1408663365	missense variant	-	NC_000002.12:g.170845713A>G	TOPMed
GAD1	Q99259	p.Lys295Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170845723G>C	NCI-TCGA
GAD1	Q99259	p.Lys295Arg	rs747831626	missense variant	-	NC_000002.12:g.170845722A>G	ExAC,gnomAD
GAD1	Q99259	p.Ala297Val	rs769377346	missense variant	-	NC_000002.12:g.170845728C>T	ExAC,gnomAD
GAD1	Q99259	p.Ala299GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.170845729_170845730insG	NCI-TCGA
GAD1	Q99259	p.Ala299Thr	rs772896216	missense variant	-	NC_000002.12:g.170845733G>A	ExAC,gnomAD
GAD1	Q99259	p.Ala299Val	rs762950875	missense variant	-	NC_000002.12:g.170845734C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Gly304Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170845748G>A	NCI-TCGA
GAD1	Q99259	p.Gly304Ala	rs770967698	missense variant	-	NC_000002.12:g.170845749G>C	ExAC,gnomAD
GAD1	Q99259	p.Asp306His	rs562343816	missense variant	-	NC_000002.12:g.170845754G>C	1000Genomes,ExAC,gnomAD
GAD1	Q99259	p.Ile311Leu	rs574505468	missense variant	-	NC_000002.12:g.170845769A>T	1000Genomes,ExAC,gnomAD
GAD1	Q99259	p.Cys313Arg	rs1242901742	missense variant	-	NC_000002.12:g.170845775T>C	gnomAD
GAD1	Q99259	p.Glu315Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170845781G>A	NCI-TCGA
GAD1	Q99259	p.Arg316Lys	rs767248551	missense variant	-	NC_000002.12:g.170845785G>A	ExAC,gnomAD
GAD1	Q99259	p.Ile319Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.170846013A>-	NCI-TCGA
GAD1	Q99259	p.Ile320Thr	rs771879401	missense variant	-	NC_000002.12:g.170846020T>C	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ile320Asn	rs771879401	missense variant	-	NC_000002.12:g.170846020T>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Pro321Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170846022C>T	NCI-TCGA
GAD1	Q99259	p.Pro321Leu	rs775306074	missense variant	-	NC_000002.12:g.170846023C>T	ExAC,gnomAD
GAD1	Q99259	p.Ala322Gly	rs1377219992	missense variant	-	NC_000002.12:g.170846026C>G	TOPMed
GAD1	Q99259	p.Asp323Asn	rs1348687911	missense variant	-	NC_000002.12:g.170846028G>A	gnomAD
GAD1	Q99259	p.Phe324Cys	rs762021043	missense variant	-	NC_000002.12:g.170846032T>G	ExAC,gnomAD
GAD1	Q99259	p.Glu325Gln	COSM1305842	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170846034G>C	NCI-TCGA Cosmic
GAD1	Q99259	p.Ala326Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170846037G>T	NCI-TCGA
GAD1	Q99259	p.Leu329Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170846046C>T	NCI-TCGA
GAD1	Q99259	p.Leu329Ile	rs1369644885	missense variant	-	NC_000002.12:g.170846046C>A	gnomAD
GAD1	Q99259	p.Glu330Gly	rs1313496161	missense variant	-	NC_000002.12:g.170846050A>G	TOPMed
GAD1	Q99259	p.Lys332Arg	rs374697614	missense variant	-	NC_000002.12:g.170846056A>G	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Gln333Glu	rs567986891	missense variant	-	NC_000002.12:g.170846058C>G	1000Genomes,TOPMed,gnomAD
GAD1	Q99259	p.Lys334Arg	rs773440295	missense variant	-	NC_000002.12:g.170846062A>G	ExAC,gnomAD
GAD1	Q99259	p.Lys334Asn	COSM4086718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170846063G>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Gly335Val	rs1222483064	missense variant	-	NC_000002.12:g.170847677G>T	gnomAD
GAD1	Q99259	p.Gly335Glu	COSM3569962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170847677G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Asn342Ser	rs144099065	missense variant	-	NC_000002.12:g.170847698A>G	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Thr347Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170847712A>G	NCI-TCGA
GAD1	Q99259	p.Thr347Met	rs749452013	missense variant	-	NC_000002.12:g.170847713C>T	TOPMed,gnomAD
GAD1	Q99259	p.Asp354Asn	rs1439856921	missense variant	-	NC_000002.12:g.170847733G>A	TOPMed
GAD1	Q99259	p.Pro355Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170847736C>T	NCI-TCGA
GAD1	Q99259	p.Gln357Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170847742C>A	NCI-TCGA
GAD1	Q99259	p.Gln357Arg	rs201591160	missense variant	-	NC_000002.12:g.170847743A>G	ExAC,gnomAD
GAD1	Q99259	p.Glu358Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170847745G>A	NCI-TCGA
GAD1	Q99259	p.Ile359Thr	rs1176458069	missense variant	-	NC_000002.12:g.170847749T>C	TOPMed
GAD1	Q99259	p.Asp361Val	rs746752116	missense variant	-	NC_000002.12:g.170847755A>T	ExAC,gnomAD
GAD1	Q99259	p.Ile362Thr	rs768449364	missense variant	-	NC_000002.12:g.170847758T>C	ExAC,gnomAD
GAD1	Q99259	p.Tyr366Ter	rs559356309	stop gained	-	NC_000002.12:g.170847771T>A	1000Genomes,ExAC,gnomAD
GAD1	Q99259	p.Asp373Asn	rs902885771	missense variant	-	NC_000002.12:g.170847790G>A	-
GAD1	Q99259	p.Ala375Ser	rs747515399	missense variant	-	NC_000002.12:g.170849289G>T	ExAC,gnomAD
GAD1	Q99259	p.Trp376Cys	rs1450165631	missense variant	-	NC_000002.12:g.170849294G>T	TOPMed
GAD1	Q99259	p.Trp376Ter	COSM3569963	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.170849294G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Gly377Arg	COSM3569964	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170849295G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Leu381Phe	COSM2153550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170849307C>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Met382CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.170849310A>-	NCI-TCGA
GAD1	Q99259	p.Met382Val	rs762020151	missense variant	-	NC_000002.12:g.170849310A>G	ExAC,gnomAD
GAD1	Q99259	p.His386Tyr	rs765668781	missense variant	-	NC_000002.12:g.170849322C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.His386Pro	rs772695477	missense variant	-	NC_000002.12:g.170849323A>C	ExAC,gnomAD
GAD1	Q99259	p.Arg387His	rs765841229	missense variant	-	NC_000002.12:g.170849326G>A	ExAC,gnomAD
GAD1	Q99259	p.Arg387Cys	rs762639802	missense variant	-	NC_000002.12:g.170849325C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Asn391Tyr	rs1290731220	missense variant	-	NC_000002.12:g.170849337A>T	gnomAD
GAD1	Q99259	p.Ile393Val	rs767301761	missense variant	-	NC_000002.12:g.170849343A>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Asn397Ser	rs374121915	missense variant	-	NC_000002.12:g.170852719A>G	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Pro403Leu	rs145209240	missense variant	-	NC_000002.12:g.170852737C>T	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Pro403Thr	COSM269219	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170852736C>A	NCI-TCGA Cosmic
GAD1	Q99259	p.His404Tyr	COSM441493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170852739C>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Lys405Asn	COSM418482	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170852744G>C	NCI-TCGA Cosmic
GAD1	Q99259	p.Met406Ile	rs1295253118	missense variant	-	NC_000002.12:g.170852747G>C	TOPMed
GAD1	Q99259	p.Met407Thr	rs1177284797	missense variant	-	NC_000002.12:g.170852749T>C	TOPMed,gnomAD
GAD1	Q99259	p.Met407Ile	rs754960530	missense variant	-	NC_000002.12:g.170852750G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Val409Met	rs770401754	missense variant	-	NC_000002.12:g.170852754G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ile416Phe	rs749599647	missense variant	-	NC_000002.12:g.170852775A>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ile416Val	rs749599647	missense variant	-	NC_000002.12:g.170852775A>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Val418Phe	RCV000326022	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170852781G>T	ClinVar
GAD1	Q99259	p.Val418Phe	RCV000515943	missense variant	Hereditary spastic paraplegia	NC_000002.12:g.170852781G>T	ClinVar
GAD1	Q99259	p.Val418Phe	rs143058194	missense variant	-	NC_000002.12:g.170852781G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Val418Ile	rs143058194	missense variant	-	NC_000002.12:g.170852781G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Glu420Gly	rs1325203081	missense variant	-	NC_000002.12:g.170852788A>G	gnomAD
GAD1	Q99259	p.Glu420Asp	rs771451673	missense variant	-	NC_000002.12:g.170852789A>T	ExAC,gnomAD
GAD1	Q99259	p.Gly422Asp	rs965039416	missense variant	-	NC_000002.12:g.170853874G>A	TOPMed,gnomAD
GAD1	Q99259	p.Cys427Gly	rs183828556	missense variant	-	NC_000002.12:g.170853888T>G	1000Genomes,ExAC,gnomAD
GAD1	Q99259	p.Cys427Tyr	COSM4168844	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170853889G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Gln429His	rs1380124729	missense variant	-	NC_000002.12:g.170853896G>C	TOPMed
GAD1	Q99259	p.Met430Thr	rs1312555869	missense variant	-	NC_000002.12:g.170853898T>C	TOPMed
GAD1	Q99259	p.Met430Leu	rs1417206224	missense variant	-	NC_000002.12:g.170853897A>C	gnomAD
GAD1	Q99259	p.Met430Val	rs1417206224	missense variant	-	NC_000002.12:g.170853897A>G	gnomAD
GAD1	Q99259	p.Met430Ile	rs761887714	missense variant	-	NC_000002.12:g.170853899G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Met430Ile	RCV000382865	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170853899G>A	ClinVar
GAD1	Q99259	p.Ala432Thr	rs1164067313	missense variant	-	NC_000002.12:g.170853903G>A	TOPMed,gnomAD
GAD1	Q99259	p.Gly433Ala	COSM1305843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170853907G>C	NCI-TCGA Cosmic
GAD1	Q99259	p.Tyr434Ter	rs1049734	stop gained	-	NC_000002.12:g.170853911C>A	ExAC,gnomAD
GAD1	Q99259	p.Ser445Phe	RCV000704234	missense variant	Cerebral palsy, spastic quadriplegic, 1 (CPSQ1)	NC_000002.12:g.170853943C>T	ClinVar
GAD1	Q99259	p.Ser445Phe	rs1169710215	missense variant	-	NC_000002.12:g.170853943C>T	TOPMed
GAD1	Q99259	p.Asp447Asn	rs1432510263	missense variant	-	NC_000002.12:g.170853948G>A	gnomAD
GAD1	Q99259	p.Thr448Ser	rs1461933909	missense variant	-	NC_000002.12:g.170853952C>G	TOPMed
GAD1	Q99259	p.Gly449Glu	rs1361772083	missense variant	-	NC_000002.12:g.170853955G>A	gnomAD
GAD1	Q99259	p.Ile453Thr	rs1247194476	missense variant	-	NC_000002.12:g.170853967T>C	gnomAD
GAD1	Q99259	p.Cys455Tyr	rs756181349	missense variant	-	NC_000002.12:g.170853973G>A	ExAC
GAD1	Q99259	p.Arg457His	rs1190356035	missense variant	-	NC_000002.12:g.170853979G>A	TOPMed
GAD1	Q99259	p.Val459Met	rs199758288	missense variant	-	NC_000002.12:g.170853984G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Val459Leu	rs199758288	missense variant	-	NC_000002.12:g.170853984G>T	1000Genomes,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Phe464Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170854001C>A	NCI-TCGA
GAD1	Q99259	p.Ala470Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170854017G>A	NCI-TCGA
GAD1	Q99259	p.Thr473Ala	rs1384923709	missense variant	-	NC_000002.12:g.170857021A>G	gnomAD
GAD1	Q99259	p.Val474Gly	rs769403	missense variant	-	NC_000002.12:g.170857025T>G	UniProt,dbSNP
GAD1	Q99259	p.Val474Gly	VAR_011882	missense variant	-	NC_000002.12:g.170857025T>G	UniProt
GAD1	Q99259	p.Val474Gly	rs769403	missense variant	-	NC_000002.12:g.170857025T>G	-
GAD1	Q99259	p.Phe476Leu	rs1222155975	missense variant	-	NC_000002.12:g.170857030T>C	gnomAD
GAD1	Q99259	p.Asn478Lys	rs1035541829	missense variant	-	NC_000002.12:g.170857038C>G	TOPMed
GAD1	Q99259	p.Ile480Thr	rs766120758	missense variant	-	NC_000002.12:g.170857043T>C	ExAC,gnomAD
GAD1	Q99259	p.Asn481Asp	rs1256628895	missense variant	-	NC_000002.12:g.170857045A>G	TOPMed
GAD1	Q99259	p.Cys483Tyr	rs1204026449	missense variant	-	NC_000002.12:g.170857052G>A	gnomAD
GAD1	Q99259	p.Leu484Met	rs769392	missense variant	-	NC_000002.12:g.170857054C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Glu485Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170857057G>A	NCI-TCGA
GAD1	Q99259	p.Leu486Val	rs753976834	missense variant	-	NC_000002.12:g.170857060C>G	ExAC,gnomAD
GAD1	Q99259	p.Ala487Asp	rs1340323099	missense variant	-	NC_000002.12:g.170857064C>A	TOPMed
GAD1	Q99259	p.Leu490Ile	COSM1009467	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170857072C>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Glu498Lys	rs765665349	missense variant	-	NC_000002.12:g.170857096G>A	ExAC,gnomAD
GAD1	Q99259	p.Glu498Gly	COSM2893115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170857097A>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Glu499Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.170857099G>T	NCI-TCGA
GAD1	Q99259	p.Glu499Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170857099G>A	NCI-TCGA
GAD1	Q99259	p.Glu501GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.170857102_170857112TTTGAGATGGT>-	NCI-TCGA
GAD1	Q99259	p.Glu501Gly	rs750922452	missense variant	-	NC_000002.12:g.170857106A>G	ExAC,gnomAD
GAD1	Q99259	p.Met502Ile	rs1287408308	missense variant	-	NC_000002.12:g.170857110G>A	gnomAD
GAD1	Q99259	p.Asn505Ile	rs1410713993	missense variant	-	NC_000002.12:g.170857118A>T	gnomAD
GAD1	Q99259	p.Asn505Ser	rs1410713993	missense variant	-	NC_000002.12:g.170857118A>G	gnomAD
GAD1	Q99259	p.Glu507Lys	rs780328766	missense variant	-	NC_000002.12:g.170857123G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Pro508Thr	rs1346304196	missense variant	-	NC_000002.12:g.170858804C>A	gnomAD
GAD1	Q99259	p.Glu509Gly	rs1383011891	missense variant	-	NC_000002.12:g.170858808A>G	TOPMed
GAD1	Q99259	p.Glu509Lys	rs1381723796	missense variant	-	NC_000002.12:g.170858807G>A	TOPMed
GAD1	Q99259	p.Glu509Gln	COSM6088377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170858807G>C	NCI-TCGA Cosmic
GAD1	Q99259	p.His510Tyr	rs1174554168	missense variant	-	NC_000002.12:g.170858810C>T	TOPMed
GAD1	Q99259	p.Thr511Lys	rs761839443	missense variant	-	NC_000002.12:g.170858814C>A	ExAC,gnomAD
GAD1	Q99259	p.Asn512Asp	rs1281548620	missense variant	-	NC_000002.12:g.170858816A>G	gnomAD
GAD1	Q99259	p.Val513Ile	rs750917624	missense variant	-	NC_000002.12:g.170858819G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Val513Leu	rs750917624	missense variant	-	NC_000002.12:g.170858819G>C	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Cys514Phe	rs544356365	missense variant	-	NC_000002.12:g.170858823G>T	1000Genomes,ExAC,gnomAD
GAD1	Q99259	p.Phe515Val	rs1203023837	missense variant	-	NC_000002.12:g.170858825T>G	TOPMed,gnomAD
GAD1	Q99259	p.Trp516GlyPheSerTerUnkUnk	COSM1401230	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.170858824T>-	NCI-TCGA Cosmic
GAD1	Q99259	p.Pro519Ser	COSM3569966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170858837C>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Arg523Trp	COSM6088376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170858849A>T	NCI-TCGA Cosmic
GAD1	Q99259	p.Gly524Asp	rs1259121135	missense variant	-	NC_000002.12:g.170858853G>A	TOPMed
GAD1	Q99259	p.Pro526Leu	rs1194319367	missense variant	-	NC_000002.12:g.170858859C>T	gnomAD
GAD1	Q99259	p.Pro526Thr	rs755637844	missense variant	-	NC_000002.12:g.170858858C>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ser528Asn	rs777199387	missense variant	-	NC_000002.12:g.170858865G>A	ExAC,gnomAD
GAD1	Q99259	p.Pro529Ser	rs749219007	missense variant	-	NC_000002.12:g.170858867C>T	ExAC,gnomAD
GAD1	Q99259	p.Pro529Leu	rs770840674	missense variant	-	NC_000002.12:g.170858868C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg531Ter	rs745595462	stop gained	-	NC_000002.12:g.170858873C>T	ExAC,gnomAD
GAD1	Q99259	p.Arg531Gln	rs771882638	missense variant	-	NC_000002.12:g.170858874G>A	ExAC
GAD1	Q99259	p.Arg532Gln	RCV000385862	missense variant	Cerebral palsy spastic quadriplegic	NC_000002.12:g.170858877G>A	ClinVar
GAD1	Q99259	p.Arg532Gln	rs769402	missense variant	-	NC_000002.12:g.170858877G>A	UniProt,dbSNP
GAD1	Q99259	p.Arg532Gln	VAR_011883	missense variant	-	NC_000002.12:g.170858877G>A	UniProt
GAD1	Q99259	p.Arg532Gln	rs769402	missense variant	-	NC_000002.12:g.170858877G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg532Trp	rs776783455	missense variant	-	NC_000002.12:g.170858876C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg532Pro	rs769402	missense variant	-	NC_000002.12:g.170858877G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Lys534Glu	rs1226713915	missense variant	-	NC_000002.12:g.170858882A>G	TOPMed
GAD1	Q99259	p.His536Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170858889A>G	NCI-TCGA
GAD1	Q99259	p.Lys537Glu	rs1324739460	missense variant	-	NC_000002.12:g.170858891A>G	TOPMed
GAD1	Q99259	p.Val538Met	rs779861405	missense variant	-	NC_000002.12:g.170859709G>A	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Lys541Glu	rs1157032131	missense variant	-	NC_000002.12:g.170859718A>G	gnomAD
GAD1	Q99259	p.Ile542Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170859722T>C	NCI-TCGA
GAD1	Q99259	p.Lys543Arg	rs1253088196	missense variant	-	NC_000002.12:g.170859725A>G	TOPMed
GAD1	Q99259	p.Ala544Val	rs1248157209	missense variant	-	NC_000002.12:g.170859728C>T	TOPMed,gnomAD
GAD1	Q99259	p.Ala544Thr	COSM717759	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170859727G>A	NCI-TCGA Cosmic
GAD1	Q99259	p.Ala544Gly	COSM1009469	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170859728C>G	NCI-TCGA Cosmic
GAD1	Q99259	p.Leu545Val	rs566385980	missense variant	-	NC_000002.12:g.170859730C>G	1000Genomes,ExAC,gnomAD
GAD1	Q99259	p.Met547Ile	rs773501119	missense variant	-	NC_000002.12:g.170859738G>A	ExAC,gnomAD
GAD1	Q99259	p.Ser549Leu	rs1239153271	missense variant	-	NC_000002.12:g.170859743C>T	gnomAD
GAD1	Q99259	p.Thr551Met	rs762878619	missense variant	-	NC_000002.12:g.170859749C>T	ExAC,gnomAD
GAD1	Q99259	p.Thr552Ile	rs1208461982	missense variant	-	NC_000002.12:g.170859752C>T	gnomAD
GAD1	Q99259	p.Met553Ile	rs1202350146	missense variant	-	NC_000002.12:g.170859756G>A	TOPMed
GAD1	Q99259	p.Val554Ala	rs771076223	missense variant	-	NC_000002.12:g.170859758T>C	ExAC,gnomAD
GAD1	Q99259	p.Pro558Ser	RCV000625924	missense variant	Cerebral palsy, spastic quadriplegic, 1 (CPSQ1)	NC_000002.12:g.170859769C>T	ClinVar
GAD1	Q99259	p.Pro558Ser	rs774953382	missense variant	-	NC_000002.12:g.170859769C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Pro558Ala	rs774953382	missense variant	-	NC_000002.12:g.170859769C>G	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Gly560Arg	rs1180557916	missense variant	-	NC_000002.12:g.170859775G>A	TOPMed,gnomAD
GAD1	Q99259	p.Gly560Val	rs892617163	missense variant	-	NC_000002.12:g.170859776G>T	TOPMed
GAD1	Q99259	p.Ala563Val	rs140912905	missense variant	-	NC_000002.12:g.170859785C>T	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Asn564Ser	rs1161418050	missense variant	-	NC_000002.12:g.170859788A>G	gnomAD
GAD1	Q99259	p.Phe565Leu	rs1049736	missense variant	-	NC_000002.12:g.170859792C>A	ExAC,gnomAD
GAD1	Q99259	p.Phe566Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.170859794T>A	NCI-TCGA
GAD1	Q99259	p.Arg567Trp	rs763585990	missense variant	-	NC_000002.12:g.170859796C>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Arg567Gln	rs753558119	missense variant	-	NC_000002.12:g.170859797G>A	ExAC,gnomAD
GAD1	Q99259	p.Arg567Pro	rs753558119	missense variant	-	NC_000002.12:g.170859797G>C	ExAC,gnomAD
GAD1	Q99259	p.Met568Ile	rs540956386	missense variant	-	NC_000002.12:g.170859801G>T	gnomAD
GAD1	Q99259	p.Met568Leu	rs375530557	missense variant	-	NC_000002.12:g.170859799A>T	ESP,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ile570Phe	rs764774577	missense variant	-	NC_000002.12:g.170859805A>T	ExAC,gnomAD
GAD1	Q99259	p.Ser571Pro	rs750327304	missense variant	-	NC_000002.12:g.170859808T>C	ExAC
GAD1	Q99259	p.Asn572Thr	rs199613243	missense variant	-	NC_000002.12:g.170859812A>C	ExAC,gnomAD
GAD1	Q99259	p.Ala575Thr	rs527691350	missense variant	-	NC_000002.12:g.170859820G>A	1000Genomes,ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ile580Thr	rs1326032504	missense variant	-	NC_000002.12:g.170859836T>C	gnomAD
GAD1	Q99259	p.Leu583Phe	rs1208499139	missense variant	-	NC_000002.12:g.170859844C>T	gnomAD
GAD1	Q99259	p.Ile584Ser	rs562769154	missense variant	-	NC_000002.12:g.170859848T>G	ExAC,TOPMed
GAD1	Q99259	p.Ile584Val	rs1255882684	missense variant	-	NC_000002.12:g.170859847A>G	gnomAD
GAD1	Q99259	p.Ile584Thr	rs562769154	missense variant	-	NC_000002.12:g.170859848T>C	ExAC,TOPMed
GAD1	Q99259	p.Ile587Met	rs1249788198	missense variant	-	NC_000002.12:g.170859858A>G	TOPMed,gnomAD
GAD1	Q99259	p.Ile587Leu	rs770895870	missense variant	-	NC_000002.12:g.170859856A>T	ExAC,TOPMed,gnomAD
GAD1	Q99259	p.Ile587Thr	rs986095646	missense variant	-	NC_000002.12:g.170859857T>C	TOPMed
GAD1	Q99259	p.Arg589Lys	COSM3569968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.170859863G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Glu2Lys	COSM4397573	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71354902C>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Asp5Ala	rs767080375	missense variant	-	NC_000008.11:g.71354892T>G	ExAC
EYA1	Q99502	p.Leu6Pro	COSM3901394	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71354889A>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser8Asn	rs1393157586	missense variant	-	NC_000008.11:g.71354883C>T	TOPMed,gnomAD
EYA1	Q99502	p.Pro9Leu	RCV000762522	missense variant	-	NC_000008.11:g.71354880G>A	ClinVar
EYA1	Q99502	p.Pro9Leu	rs766713665	missense variant	-	NC_000008.11:g.71354880G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro9Arg	rs766713665	missense variant	-	NC_000008.11:g.71354880G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His10Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71354878G>T	NCI-TCGA
EYA1	Q99502	p.His10Arg	rs1052858465	missense variant	-	NC_000008.11:g.71354877T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser11Asn	rs1164012590	missense variant	-	NC_000008.11:g.71354874C>T	gnomAD
EYA1	Q99502	p.Arg12Pro	rs74720958	missense variant	-	NC_000008.11:g.71354871C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg12Cys	rs530921368	missense variant	-	NC_000008.11:g.71354872G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg12His	rs74720958	missense variant	-	NC_000008.11:g.71354871C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu13Val	rs776514587	missense variant	-	NC_000008.11:g.71354869G>C	ExAC,gnomAD
EYA1	Q99502	p.Leu13Gln	rs768783796	missense variant	-	NC_000008.11:g.71354868A>T	ExAC,gnomAD
EYA1	Q99502	p.Ser17Asn	rs780483424	missense variant	-	NC_000008.11:g.71354856C>T	ExAC,gnomAD
EYA1	Q99502	p.Ser17Gly	rs747231434	missense variant	-	NC_000008.11:g.71354857T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu18Lys	COSM3925560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71354854C>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Pro20Ala	RCV000711621	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	rs1445404	missense variant	-	NC_000008.11:g.71354848G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	rs1445404	missense variant	-	NC_000008.11:g.71354848G>C	UniProt,dbSNP
EYA1	Q99502	p.Pro20Ala	VAR_024439	missense variant	-	NC_000008.11:g.71354848G>C	UniProt
EYA1	Q99502	p.Pro20Thr	rs1445404	missense variant	-	NC_000008.11:g.71354848G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	RCV000310360	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000041394	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000406094	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Gly22Asp	rs727503049	missense variant	-	NC_000008.11:g.71354841C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly22Asp	RCV000150678	missense variant	-	NC_000008.11:g.71354841C>T	ClinVar
EYA1	Q99502	p.Leu25Ile	rs752696368	missense variant	-	NC_000008.11:g.71354833G>T	ExAC,gnomAD
EYA1	Q99502	p.Gly26Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71354829C>T	NCI-TCGA
EYA1	Q99502	p.Gly26Ser	rs199664417	missense variant	-	NC_000008.11:g.71354830C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly26Cys	rs199664417	missense variant	-	NC_000008.11:g.71354830C>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn27Thr	rs751187504	missense variant	-	NC_000008.11:g.71354826T>G	ExAC,gnomAD
EYA1	Q99502	p.Ser28Cys	rs558089479	missense variant	-	NC_000008.11:g.71354823G>C	ExAC,gnomAD
EYA1	Q99502	p.Ile30Val	RCV000607103	missense variant	-	NC_000008.11:g.71354818T>C	ClinVar
EYA1	Q99502	p.Ile30Val	rs1554565600	missense variant	-	NC_000008.11:g.71354818T>C	-
EYA1	Q99502	p.Ile30Met	rs1486534014	missense variant	-	NC_000008.11:g.71354816T>C	gnomAD
EYA1	Q99502	p.Ser34Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71354805G>A	NCI-TCGA
EYA1	Q99502	p.Thr36Ile	rs727503048	missense variant	-	NC_000008.11:g.71354799G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr36Ile	RCV000150677	missense variant	-	NC_000008.11:g.71354799G>A	ClinVar
EYA1	Q99502	p.Pro37Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71354796G>A	NCI-TCGA
EYA1	Q99502	p.Asn38Ile	rs750274491	missense variant	-	NC_000008.11:g.71354793T>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Ser	rs750274491	missense variant	-	NC_000008.11:g.71354793T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Asp	rs765646278	missense variant	-	NC_000008.11:g.71354794T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly39Asp	rs267601985	missense variant	-	NC_000008.11:g.71354790C>T	-
EYA1	Q99502	p.Thr40Ala	rs1196497532	missense variant	-	NC_000008.11:g.71354788T>C	TOPMed,gnomAD
EYA1	Q99502	p.Glu41Gln	rs561111097	missense variant	-	NC_000008.11:g.71354785C>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu41Lys	rs561111097	missense variant	-	NC_000008.11:g.71354785C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu41Lys	rs561111097	missense variant	-	NC_000008.11:g.71354785C>T	UniProt,dbSNP
EYA1	Q99502	p.Glu41Lys	VAR_070033	missense variant	-	NC_000008.11:g.71354785C>T	UniProt
EYA1	Q99502	p.Glu41Gln	RCV000234887	missense variant	Renal hypoplasia	NC_000008.11:g.71354785C>G	ClinVar
EYA1	Q99502	p.Thr44Ile	rs774402195	missense variant	-	NC_000008.11:g.71334168G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu45Lys	rs1373021054	missense variant	-	NC_000008.11:g.71334166C>T	gnomAD
EYA1	Q99502	p.Met47Thr	rs1323652552	missense variant	-	NC_000008.11:g.71334159A>G	gnomAD
EYA1	Q99502	p.Ser49Asn	rs958156575	missense variant	-	NC_000008.11:g.71334153C>T	TOPMed
EYA1	Q99502	p.Ser50Cys	COSM6113966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71334151T>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Thr52Ile	rs200206302	missense variant	-	NC_000008.11:g.71334144G>A	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala53Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71334142C>T	NCI-TCGA
EYA1	Q99502	p.Ala53Val	rs776352141	missense variant	-	NC_000008.11:g.71334141G>A	ExAC,gnomAD
EYA1	Q99502	p.Thr55Met	RCV000416584	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71334135G>A	ClinVar
EYA1	Q99502	p.Thr55Ala	rs139194909	missense variant	-	NC_000008.11:g.71334136T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr55Met	rs201434219	missense variant	-	NC_000008.11:g.71334135G>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr56Ala	rs1248918883	missense variant	-	NC_000008.11:g.71334133T>C	gnomAD
EYA1	Q99502	p.Thr56Ile	rs1199697219	missense variant	-	NC_000008.11:g.71334132G>A	gnomAD
EYA1	Q99502	p.Asp58Glu	rs370509332	missense variant	-	NC_000008.11:g.71334125G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp58Asn	rs756885537	missense variant	-	NC_000008.11:g.71334127C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly59Arg	rs146216506	missense variant	-	NC_000008.11:g.71334124C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly59Glu	COSM3650743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71334123C>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Phe64Leu	COSM3901392	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71334107G>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser65Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.71334105G>C	NCI-TCGA
EYA1	Q99502	p.Ser65Leu	rs1389200174	missense variant	-	NC_000008.11:g.71334105G>A	TOPMed
EYA1	Q99502	p.Gly66Cys	RCV000342060	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71334103C>A	ClinVar
EYA1	Q99502	p.Gly66Cys	rs886063089	missense variant	-	NC_000008.11:g.71334103C>A	TOPMed,gnomAD
EYA1	Q99502	p.Gly66Val	rs149289196	missense variant	-	NC_000008.11:g.71334102C>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly66Cys	RCV000303649	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71334103C>A	ClinVar
EYA1	Q99502	p.Ala68Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71322268G>C	NCI-TCGA
EYA1	Q99502	p.Ala68Pro	rs1169615269	missense variant	-	NC_000008.11:g.71334097C>G	TOPMed
EYA1	Q99502	p.Ala68Ser	rs1169615269	missense variant	-	NC_000008.11:g.71334097C>A	TOPMed
EYA1	Q99502	p.Ile69Val	rs1032162749	missense variant	-	NC_000008.11:g.71322266T>C	gnomAD
EYA1	Q99502	p.Ile69Thr	rs371059560	missense variant	-	NC_000008.11:g.71322265A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile69Leu	rs1032162749	missense variant	-	NC_000008.11:g.71322266T>G	gnomAD
EYA1	Q99502	p.Ser71Asn	rs1462564075	missense variant	-	NC_000008.11:g.71322259C>T	TOPMed
EYA1	Q99502	p.Ser72Gly	rs1275882788	missense variant	-	NC_000008.11:g.71322257T>C	gnomAD
EYA1	Q99502	p.Ser73Arg	rs1201735320	missense variant	-	NC_000008.11:g.71322254T>G	TOPMed
EYA1	Q99502	p.Ser73Asn	rs1429110987	missense variant	-	NC_000008.11:g.71322253C>T	TOPMed,gnomAD
EYA1	Q99502	p.Pro76Leu	COSM3925558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71322244G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Arg77Gln	rs770356158	missense variant	-	NC_000008.11:g.71322241C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg77Ter	rs200164773	stop gained	-	NC_000008.11:g.71322242G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg77Ter	RCV000544733	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71322242G>A	ClinVar
EYA1	Q99502	p.Pro78Arg	rs1414412230	missense variant	-	NC_000008.11:g.71322238G>C	gnomAD
EYA1	Q99502	p.Thr79Ala	RCV000522348	missense variant	-	NC_000008.11:g.71322236T>C	ClinVar
EYA1	Q99502	p.Thr79Ala	rs1554550645	missense variant	-	NC_000008.11:g.71322236T>C	-
EYA1	Q99502	p.Gln81Ter	RCV000600507	nonsense	Rare genetic deafness	NC_000008.11:g.71322230G>A	ClinVar
EYA1	Q99502	p.Gln81Ter	rs1554550637	stop gained	-	NC_000008.11:g.71322230G>A	-
EYA1	Q99502	p.Phe82Tyr	rs777629266	missense variant	-	NC_000008.11:g.71322226A>T	ExAC,gnomAD
EYA1	Q99502	p.Phe82Ser	rs777629266	missense variant	-	NC_000008.11:g.71322226A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser83Cys	rs748482012	missense variant	-	NC_000008.11:g.71322223G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser83Pro	rs1191745624	missense variant	-	NC_000008.11:g.71322224A>G	gnomAD
EYA1	Q99502	p.Ser83Phe	rs748482012	missense variant	-	NC_000008.11:g.71322223G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro85Ser	rs1237828849	missense variant	-	NC_000008.11:g.71322218G>A	TOPMed,gnomAD
EYA1	Q99502	p.Gln86Arg	rs781429176	missense variant	-	NC_000008.11:g.71322214T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile87AsnPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000008.11:g.71322211_71322212insTCTGTGGTGGAGACACTGAAGTATTTCAGTGCTTTGTCAAT	NCI-TCGA
EYA1	Q99502	p.Ile87Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71322212T>C	NCI-TCGA
EYA1	Q99502	p.Ile87Thr	rs755452077	missense variant	-	NC_000008.11:g.71322211A>G	ExAC,gnomAD
EYA1	Q99502	p.Tyr88His	rs534707284	missense variant	-	NC_000008.11:g.71322209A>G	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Pro89Leu	rs368351103	missense variant	-	NC_000008.11:g.71322205G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro89Ser	rs1255833754	missense variant	-	NC_000008.11:g.71322206G>A	gnomAD
EYA1	Q99502	p.Ser90Phe	rs1379371014	missense variant	-	NC_000008.11:g.71322202G>A	gnomAD
EYA1	Q99502	p.Asn91Asp	rs750621028	missense variant	-	NC_000008.11:g.71322200T>C	ExAC,gnomAD
EYA1	Q99502	p.ProTyr93ProCysTerTyr	rs1438639316	stop gained	-	NC_000008.11:g.71321873_71321874insTAACAT	gnomAD
EYA1	Q99502	p.Tyr94Glu	NCI-TCGA novel	insertion	-	NC_000008.11:g.71321869_71321870insTTC	NCI-TCGA
EYA1	Q99502	p.Pro95Leu	rs759310166	missense variant	-	NC_000008.11:g.71321868G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro95Gln	rs759310166	missense variant	-	NC_000008.11:g.71321868G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro95Ser	VAR_064942	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.His96Arg	rs377434964	missense variant	-	NC_000008.11:g.71321865T>C	ESP,ExAC,gnomAD
EYA1	Q99502	p.Ile97Val	rs1422583050	missense variant	-	NC_000008.11:g.71321863T>C	TOPMed,gnomAD
EYA1	Q99502	p.Leu98Phe	rs766184209	missense variant	-	NC_000008.11:g.71321860G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro99Arg	rs763005068	missense variant	-	NC_000008.11:g.71321856G>C	ExAC,gnomAD
EYA1	Q99502	p.Pro99Leu	rs763005068	missense variant	-	NC_000008.11:g.71321856G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro99Ser	COSM3650741	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71321857G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Thr100Asn	RCV000156019	missense variant	-	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	RCV000371539	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	RCV000281370	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	rs373501480	missense variant	-	NC_000008.11:g.71321853G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro101Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71321850G>A	NCI-TCGA
EYA1	Q99502	p.Pro101Ala	rs138603867	missense variant	-	NC_000008.11:g.71321851G>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser102Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71321847G>A	NCI-TCGA
EYA1	Q99502	p.Ser103Ala	rs1488509440	missense variant	-	NC_000008.11:g.71321845A>C	gnomAD
EYA1	Q99502	p.Thr105Ser	COSM116298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71321838G>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Ala107GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.71321823_71321832CCATATGCAG>-	NCI-TCGA
EYA1	Q99502	p.Ala107Thr	rs1413761721	missense variant	-	NC_000008.11:g.71321833C>T	TOPMed,gnomAD
EYA1	Q99502	p.Ala108Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71321830C>T	NCI-TCGA
EYA1	Q99502	p.Tyr109Cys	rs1489979978	missense variant	-	NC_000008.11:g.71321826T>C	gnomAD
EYA1	Q99502	p.Tyr109His	rs141779040	missense variant	-	NC_000008.11:g.71321827A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr109His	RCV000729909	missense variant	-	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Tyr109His	RCV000335524	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Tyr109His	RCV000294529	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Gly110Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71321823C>A	NCI-TCGA
EYA1	Q99502	p.Gly110Glu	rs769041202	missense variant	-	NC_000008.11:g.71321823C>T	ExAC,gnomAD
EYA1	Q99502	p.Gln113Arg	rs184596522	missense variant	-	NC_000008.11:g.71321814T>C	1000Genomes
EYA1	Q99502	p.Gln113Lys	rs747371845	missense variant	-	NC_000008.11:g.71321815G>T	ExAC,gnomAD
EYA1	Q99502	p.Phe114Tyr	rs746388153	missense variant	-	NC_000008.11:g.71321811A>T	ExAC,gnomAD
EYA1	Q99502	p.Phe114Leu	rs772521196	missense variant	-	NC_000008.11:g.71321812A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr115Asn	rs1368387497	missense variant	-	NC_000008.11:g.71321808G>T	gnomAD
EYA1	Q99502	p.Thr115Ile	rs1368387497	missense variant	-	NC_000008.11:g.71321808G>A	gnomAD
EYA1	Q99502	p.Gly117Ter	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71321803C>A	NCI-TCGA
EYA1	Q99502	p.Gly117Glu	rs1293217360	missense variant	-	NC_000008.11:g.71321802C>T	gnomAD
EYA1	Q99502	p.Met118Ile	rs1362617814	missense variant	-	NC_000008.11:g.71321798C>T	TOPMed,gnomAD
EYA1	Q99502	p.Met118Ile	rs1362617814	missense variant	-	NC_000008.11:g.71321798C>A	TOPMed,gnomAD
EYA1	Q99502	p.Met118Val	rs778898100	missense variant	-	NC_000008.11:g.71321800T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Met118Leu	rs778898100	missense variant	-	NC_000008.11:g.71321800T>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gln119Arg	COSM4930085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71321796T>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Ala121Thr	rs757399419	missense variant	-	NC_000008.11:g.71321791C>T	ExAC,gnomAD
EYA1	Q99502	p.Ala121Pro	rs757399419	missense variant	-	NC_000008.11:g.71321791C>G	ExAC,gnomAD
EYA1	Q99502	p.Ala121Asp	rs754082186	missense variant	-	NC_000008.11:g.71321790G>T	ExAC,gnomAD
EYA1	Q99502	p.Thr122Arg	rs971427687	missense variant	-	NC_000008.11:g.71321787G>C	gnomAD
EYA1	Q99502	p.Thr126Lys	rs375521116	missense variant	-	NC_000008.11:g.71321775G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr126Met	rs375521116	missense variant	-	NC_000008.11:g.71321775G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro128Leu	rs1478602440	missense variant	-	NC_000008.11:g.71321769G>A	gnomAD
EYA1	Q99502	p.Gln129His	rs1315972086	missense variant	-	NC_000008.11:g.71321765C>G	TOPMed
EYA1	Q99502	p.Gln132Ter	RCV000215585	frameshift	Rare genetic deafness	NC_000008.11:g.71321748_71321758del	ClinVar
EYA1	Q99502	p.Pro133Leu	rs138234228	missense variant	-	NC_000008.11:g.71321754G>A	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Gly135Ser	RCV000825655	missense variant	-	NC_000008.11:g.71321749C>T	ClinVar
EYA1	Q99502	p.Gly135Asp	rs776314304	missense variant	-	NC_000008.11:g.71321748C>T	ExAC,gnomAD
EYA1	Q99502	p.Gly135Ser	rs747476629	missense variant	-	NC_000008.11:g.71321749C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly135Ser	RCV000490264	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71321749C>T	ClinVar
EYA1	Q99502	p.Ser137Phe	COSM3925556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71321742G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser138Leu	rs1245501738	missense variant	-	NC_000008.11:g.71321739G>A	TOPMed
EYA1	Q99502	p.Tyr139His	rs763614581	missense variant	-	NC_000008.11:g.71321737A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr139Asn	rs763614581	missense variant	-	NC_000008.11:g.71321737A>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr139His	RCV000850159	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71321737A>G	ClinVar
EYA1	Q99502	p.Gly140Ser	VAR_064943	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Leu142Phe	rs749811991	missense variant	-	NC_000008.11:g.71317682C>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Trp143Ter	rs727504494	stop gained	-	NC_000008.11:g.71317680C>T	ExAC,gnomAD
EYA1	Q99502	p.Trp143Leu	rs727504494	missense variant	-	NC_000008.11:g.71317680C>A	ExAC,gnomAD
EYA1	Q99502	p.Trp143Arg	rs773097343	missense variant	-	NC_000008.11:g.71317681A>G	ExAC,gnomAD
EYA1	Q99502	p.Trp143Ter	RCV000155629	nonsense	Rare genetic deafness	NC_000008.11:g.71317680C>T	ClinVar
EYA1	Q99502	p.Ala144Thr	rs1460464467	missense variant	-	NC_000008.11:g.71317678C>T	TOPMed
EYA1	Q99502	p.Gly145Asp	rs1182285380	missense variant	-	NC_000008.11:g.71317674C>T	gnomAD
EYA1	Q99502	p.Ile146Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71317671A>T	NCI-TCGA
EYA1	Q99502	p.Ile146Val	rs202188500	missense variant	-	NC_000008.11:g.71317672T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser155Ala	rs13255076	missense variant	-	NC_000008.11:g.71317645A>C	ExAC,gnomAD
EYA1	Q99502	p.Ser155Thr	rs13255076	missense variant	-	NC_000008.11:g.71317645A>T	ExAC,gnomAD
EYA1	Q99502	p.Ser157Thr	rs778872780	missense variant	-	NC_000008.11:g.71317639A>T	ExAC,gnomAD
EYA1	Q99502	p.Pro158Leu	rs764732053	missense variant	-	NC_000008.11:g.71317635G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro158Ser	rs142344434	missense variant	-	NC_000008.11:g.71317636G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro158His	rs764732053	missense variant	-	NC_000008.11:g.71317635G>T	ExAC,gnomAD
EYA1	Q99502	p.Gln160Glu	rs763509251	missense variant	-	NC_000008.11:g.71317630G>C	ExAC,gnomAD
EYA1	Q99502	p.Gly162Glu	rs1411069397	missense variant	-	NC_000008.11:g.71317623C>T	gnomAD
EYA1	Q99502	p.Leu164Pro	rs1007684729	missense variant	-	NC_000008.11:g.71317617A>G	TOPMed,gnomAD
EYA1	Q99502	p.Leu164Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71317618G>A	NCI-TCGA
EYA1	Q99502	p.Leu164Pro	RCV000609247	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
EYA1	Q99502	p.Leu164Pro	RCV000512945	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
EYA1	Q99502	p.Ser165Ile	rs1377460458	missense variant	-	NC_000008.11:g.71317614C>A	gnomAD
EYA1	Q99502	p.Tyr166Cys	rs138353102	missense variant	-	NC_000008.11:g.71317611T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Phe170Ser	rs147066127	missense variant	-	NC_000008.11:g.71317599A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser171Asn	rs759221073	missense variant	-	NC_000008.11:g.71317596C>T	ExAC,gnomAD
EYA1	Q99502	p.Thr172Ile	rs751860428	missense variant	-	NC_000008.11:g.71317593G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro173Leu	rs766767570	missense variant	-	NC_000008.11:g.71317590G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro175Arg	rs201908026	missense variant	-	NC_000008.11:g.71317584G>C	1000Genomes,gnomAD
EYA1	Q99502	p.Pro175His	COSM3901386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71317584G>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Gln177His	rs1385538076	missense variant	-	NC_000008.11:g.71317577C>A	TOPMed
EYA1	Q99502	p.Ala178Ter	RCV000634147	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71317577del	ClinVar
EYA1	Q99502	p.Ala178Val	rs868367252	missense variant	-	NC_000008.11:g.71317575G>A	gnomAD
EYA1	Q99502	p.Pro179Leu	rs1262764388	missense variant	-	NC_000008.11:g.71317572G>A	TOPMed
EYA1	Q99502	p.Pro179Ser	rs368131485	missense variant	-	NC_000008.11:g.71317573G>A	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Tyr180Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71317569T>C	NCI-TCGA
EYA1	Q99502	p.Ser181Gly	rs1022352668	missense variant	-	NC_000008.11:g.71317567T>C	TOPMed
EYA1	Q99502	p.Tyr182His	rs200063586	missense variant	-	NC_000008.11:g.71317564A>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr182Phe	rs761991031	missense variant	-	NC_000008.11:g.71317563T>A	ExAC,gnomAD
EYA1	Q99502	p.Gln183Ter	rs1289325016	stop gained	-	NC_000008.11:g.71317561G>A	gnomAD
EYA1	Q99502	p.Gln183Arg	rs794727845	missense variant	-	NC_000008.11:g.71317560T>C	gnomAD
EYA1	Q99502	p.Gln183Arg	RCV000179762	missense variant	-	NC_000008.11:g.71317560T>C	ClinVar
EYA1	Q99502	p.Met184Thr	rs1241997853	missense variant	-	NC_000008.11:g.71317557A>G	gnomAD
EYA1	Q99502	p.Thr190Ala	COSM3901384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299709T>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Thr191Pro	rs1418597577	missense variant	-	NC_000008.11:g.71299706T>G	TOPMed
EYA1	Q99502	p.Ser192Pro	COSM1101457	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299703A>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser193Leu	rs377222777	missense variant	-	NC_000008.11:g.71299699G>A	ESP,TOPMed
EYA1	Q99502	p.Gly194Arg	COSM230154	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299697C>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Gly194Glu	COSM3650733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299696C>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Ile195Met	rs780672889	missense variant	-	NC_000008.11:g.71299692T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr197Ile	rs1173256027	missense variant	-	NC_000008.11:g.71299687G>A	gnomAD
EYA1	Q99502	p.Gly198GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.71299684C>-	NCI-TCGA
EYA1	Q99502	p.Asn200Lys	rs1320967168	missense variant	-	NC_000008.11:g.71299677A>T	gnomAD
EYA1	Q99502	p.Ser201Ter	RCV000733277	nonsense	-	NC_000008.11:g.71299675G>C	ClinVar
EYA1	Q99502	p.Ser201Ala	rs751187579	missense variant	-	NC_000008.11:g.71299676A>C	ExAC,gnomAD
EYA1	Q99502	p.Leu202Ter	RCV000627570	frameshift	-	NC_000008.11:g.71299672del	ClinVar
EYA1	Q99502	p.Leu202Phe	rs1196110281	missense variant	-	NC_000008.11:g.71299673G>A	gnomAD
EYA1	Q99502	p.Thr203Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71299669G>T	NCI-TCGA
EYA1	Q99502	p.Thr203Ala	rs758016427	missense variant	-	NC_000008.11:g.71299670T>C	ExAC,gnomAD
EYA1	Q99502	p.Thr203Ile	rs1057241340	missense variant	-	NC_000008.11:g.71299669G>A	gnomAD
EYA1	Q99502	p.Ser205Phe	COSM3650731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299663G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser206Phe	rs1444096031	missense variant	-	NC_000008.11:g.71299660G>A	TOPMed,gnomAD
EYA1	Q99502	p.Asn209Ser	COSM454818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299651T>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser210Ile	rs1202544664	missense variant	-	NC_000008.11:g.71299648C>A	gnomAD
EYA1	Q99502	p.Ser211Leu	rs757772659	missense variant	-	NC_000008.11:g.71299645G>A	ExAC,gnomAD
EYA1	Q99502	p.Gln213Ter	COSM1553269	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.71299640G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Asp214Asn	RCV000681904	missense variant	-	NC_000008.11:g.71299233C>T	ClinVar
EYA1	Q99502	p.Pro216Arg	rs200923204	missense variant	-	NC_000008.11:g.71299226G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro216Leu	rs200923204	missense variant	-	NC_000008.11:g.71299226G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro216Ser	COSM3650729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299227G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser217Phe	rs1162614873	missense variant	-	NC_000008.11:g.71299223G>A	gnomAD
EYA1	Q99502	p.Pro219Leu	rs756722124	missense variant	-	NC_000008.11:g.71299217G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro219Thr	COSM6113968	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299218G>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Gln223Arg	rs1382039361	missense variant	-	NC_000008.11:g.71299205T>C	gnomAD
EYA1	Q99502	p.Gly224Val	rs201509408	missense variant	-	NC_000008.11:g.71299202C>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly224Asp	rs201509408	missense variant	-	NC_000008.11:g.71299202C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly224Val	RCV000490441	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299202C>A	ClinVar
EYA1	Q99502	p.Gln225Glu	COSM3925552	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299200G>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Tyr226Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71299196T>C	NCI-TCGA
EYA1	Q99502	p.Ala227Thr	rs202168841	missense variant	-	NC_000008.11:g.71299194C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala227Pro	rs202168841	missense variant	-	NC_000008.11:g.71299194C>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gln228Ter	RCV000687593	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299191G>A	ClinVar
EYA1	Q99502	p.Tyr229Asn	COSM6181608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299188A>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Tyr230Cys	rs1213738374	missense variant	-	NC_000008.11:g.71299184T>C	TOPMed
EYA1	Q99502	p.Ser233Leu	rs1485766576	missense variant	-	NC_000008.11:g.71299175G>A	TOPMed
EYA1	Q99502	p.Pro234Leu	rs761632944	missense variant	-	NC_000008.11:g.71299172G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr235Phe	rs969843445	missense variant	-	NC_000008.11:g.71299169T>A	TOPMed
EYA1	Q99502	p.His238Arg	rs1344244290	missense variant	-	NC_000008.11:g.71299160T>C	gnomAD
EYA1	Q99502	p.Tyr239Phe	rs746932579	missense variant	-	NC_000008.11:g.71299157T>A	ExAC,gnomAD
EYA1	Q99502	p.Tyr239Cys	rs746932579	missense variant	-	NC_000008.11:g.71299157T>C	ExAC,gnomAD
EYA1	Q99502	p.Met240Val	rs771549701	missense variant	-	NC_000008.11:g.71299155T>C	ExAC,gnomAD
EYA1	Q99502	p.Ser242Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71299149T>A	NCI-TCGA
EYA1	Q99502	p.Ser242Gly	rs191838840	missense variant	-	NC_000008.11:g.71299149T>C	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser243Ile	rs374722758	missense variant	-	NC_000008.11:g.71299145C>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Asn244Asp	rs1278065086	missense variant	-	NC_000008.11:g.71299143T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser246Thr	rs1302329264	missense variant	-	NC_000008.11:g.71299136C>G	gnomAD
EYA1	Q99502	p.Pro247Thr	COSM3925550	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299134G>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Thr248Met	RCV000264927	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71299130G>A	ClinVar
EYA1	Q99502	p.Thr248Ala	rs1296125164	missense variant	-	NC_000008.11:g.71299131T>C	TOPMed,gnomAD
EYA1	Q99502	p.Thr248Met	rs186736708	missense variant	-	NC_000008.11:g.71299130G>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr248Met	RCV000359341	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71299130G>A	ClinVar
EYA1	Q99502	p.Thr252Ile	rs376238434	missense variant	-	NC_000008.11:g.71299118G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr252Pro	rs1418060801	missense variant	-	NC_000008.11:g.71299119T>G	gnomAD
EYA1	Q99502	p.Asn253Ile	rs960785529	missense variant	-	NC_000008.11:g.71299115T>A	TOPMed,gnomAD
EYA1	Q99502	p.Asn253Ser	rs960785529	missense variant	-	NC_000008.11:g.71299115T>C	TOPMed,gnomAD
EYA1	Q99502	p.Asn253Ser	RCV000520903	missense variant	-	NC_000008.11:g.71299115T>C	ClinVar
EYA1	Q99502	p.Ala254Asp	rs1281786069	missense variant	-	NC_000008.11:g.71299112G>T	TOPMed
EYA1	Q99502	p.Gln257His	rs149833469	missense variant	-	NC_000008.11:g.71299102C>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gln259Glu	COSM3925547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299098G>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Glu260Val	rs751772774	missense variant	-	NC_000008.11:g.71299094T>A	ExAC,gnomAD
EYA1	Q99502	p.Pro261Thr	rs766545848	missense variant	-	NC_000008.11:g.71299092G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro261Gln	rs77825059	missense variant	-	NC_000008.11:g.71299091G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro261Leu	rs77825059	missense variant	-	NC_000008.11:g.71299091G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro261Ala	COSM3779337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299092G>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Pro261Leu	RCV000607831	missense variant	-	NC_000008.11:g.71299091G>A	ClinVar
EYA1	Q99502	p.Pro262Ser	COSM3901380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299089G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Gly264Val	rs775347972	missense variant	-	NC_000008.11:g.71299082C>A	ExAC,gnomAD
EYA1	Q99502	p.Ile265Thr	COSM1101456	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71299079A>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Thr266Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71299076G>T	NCI-TCGA
EYA1	Q99502	p.Ser267Arg	rs1346438963	missense variant	-	NC_000008.11:g.71299072G>C	gnomAD
EYA1	Q99502	p.Ser267Gly	rs771589229	missense variant	-	NC_000008.11:g.71299074T>C	ExAC,gnomAD
EYA1	Q99502	p.Gln268Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71299071G>T	NCI-TCGA
EYA1	Q99502	p.Ala269Glu	rs368165352	missense variant	-	NC_000008.11:g.71299067G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val270Ala	rs1342127067	missense variant	-	NC_000008.11:g.71299064A>G	TOPMed,gnomAD
EYA1	Q99502	p.Thr271Ile	rs774032992	missense variant	-	NC_000008.11:g.71299061G>A	ExAC,gnomAD
EYA1	Q99502	p.Asp272Gly	rs748966524	missense variant	-	NC_000008.11:g.71299058T>C	ExAC,gnomAD
EYA1	Q99502	p.Asp272Tyr	rs1343323235	missense variant	-	NC_000008.11:g.71299059C>A	gnomAD
EYA1	Q99502	p.Asp272Glu	rs1441640157	missense variant	-	NC_000008.11:g.71299057A>C	TOPMed
EYA1	Q99502	p.Pro273Ser	rs778220979	missense variant	-	NC_000008.11:g.71299056G>A	ExAC
EYA1	Q99502	p.Thr274Lys	rs900664550	missense variant	-	NC_000008.11:g.71299052G>T	TOPMed
EYA1	Q99502	p.Tyr277Cys	rs374772533	missense variant	-	NC_000008.11:g.71271894T>C	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Ser278Arg	rs1185950054	missense variant	-	NC_000008.11:g.71271890G>C	TOPMed,gnomAD
EYA1	Q99502	p.Thr279Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71271888G>T	NCI-TCGA
EYA1	Q99502	p.Ser282Ile	rs1468448384	missense variant	-	NC_000008.11:g.71271879C>A	TOPMed
EYA1	Q99502	p.Pro283Leu	rs979855303	missense variant	-	NC_000008.11:g.71271876G>A	TOPMed,gnomAD
EYA1	Q99502	p.Ser284Ter	COSM364789	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.71271873G>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Thr285Ser	rs781635264	missense variant	-	NC_000008.11:g.71271871T>A	ExAC,gnomAD
EYA1	Q99502	p.Thr285Ala	rs781635264	missense variant	-	NC_000008.11:g.71271871T>C	ExAC,gnomAD
EYA1	Q99502	p.Pro286Leu	rs374615482	missense variant	-	NC_000008.11:g.71271867G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro286Ser	rs1252089449	missense variant	-	NC_000008.11:g.71271868G>A	gnomAD
EYA1	Q99502	p.Ile287Phe	rs747518329	missense variant	-	NC_000008.11:g.71271865T>A	ExAC
EYA1	Q99502	p.Ile287Thr	rs1305551163	missense variant	-	NC_000008.11:g.71271864A>G	gnomAD
EYA1	Q99502	p.Lys288Thr	rs1314840587	missense variant	-	NC_000008.11:g.71271861T>G	gnomAD
EYA1	Q99502	p.Lys288Asn	rs1246643625	missense variant	-	NC_000008.11:g.71271860T>G	gnomAD
EYA1	Q99502	p.Lys288Arg	COSM3650725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271861T>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Asp289Val	rs1029683507	missense variant	-	NC_000008.11:g.71271858T>A	TOPMed
EYA1	Q99502	p.Asp289Tyr	rs201504674	missense variant	-	NC_000008.11:g.71271859C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp289Tyr	RCV000595354	missense variant	-	NC_000008.11:g.71271859C>A	ClinVar
EYA1	Q99502	p.Asp289His	COSM4859249	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271859C>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Asp291Asn	rs779045401	missense variant	-	NC_000008.11:g.71271853C>T	ExAC,gnomAD
EYA1	Q99502	p.Asp291His	rs779045401	missense variant	-	NC_000008.11:g.71271853C>G	ExAC,gnomAD
EYA1	Q99502	p.Asp291Gly	rs1405459798	missense variant	-	NC_000008.11:g.71271852T>C	TOPMed
EYA1	Q99502	p.Ser292Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71271849G>T	NCI-TCGA
EYA1	Q99502	p.Asp293Val	rs1410593568	missense variant	-	NC_000008.11:g.71271846T>A	TOPMed
EYA1	Q99502	p.Arg294Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.71271844G>A	NCI-TCGA
EYA1	Q99502	p.Arg294Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71271844G>C	NCI-TCGA
EYA1	Q99502	p.Arg294Gln	rs757532396	missense variant	-	NC_000008.11:g.71271843C>T	ExAC,gnomAD
EYA1	Q99502	p.Leu295Ser	rs146687496	missense variant	-	NC_000008.11:g.71271840A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu295Trp	COSM3650723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271840A>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Arg296Cys	rs142104253	missense variant	-	NC_000008.11:g.71271838G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg296His	rs181191349	missense variant	-	NC_000008.11:g.71271837C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg297Ter	rs1131691667	stop gained	-	NC_000008.11:g.71271835G>A	-
EYA1	Q99502	p.Arg297Gln	rs148647933	missense variant	-	NC_000008.11:g.71271834C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg297Gln	RCV000380843	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271834C>T	ClinVar
EYA1	Q99502	p.Arg297Gln	RCV000326184	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271834C>T	ClinVar
EYA1	Q99502	p.Arg297Ter	RCV000492842	nonsense	-	NC_000008.11:g.71271835G>A	ClinVar
EYA1	Q99502	p.Arg297Ter	RCV000695248	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271835G>A	ClinVar
EYA1	Q99502	p.Gly298Asp	rs1385104528	missense variant	-	NC_000008.11:g.71271831C>T	TOPMed,gnomAD
EYA1	Q99502	p.Gly298Ser	rs765961794	missense variant	-	NC_000008.11:g.71271832C>T	ExAC,gnomAD
EYA1	Q99502	p.Gly298Cys	COSM1101455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271832C>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser299Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71271828G>A	NCI-TCGA
EYA1	Q99502	p.Ser299Ter	rs876657691	stop gained	-	NC_000008.11:g.71271828G>T	-
EYA1	Q99502	p.Ser299Ter	RCV000219278	nonsense	Rare genetic deafness	NC_000008.11:g.71271828G>T	ClinVar
EYA1	Q99502	p.Asp300His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71271826C>G	NCI-TCGA
EYA1	Q99502	p.Gly301Trp	COSM3650722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271823C>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Lys302Gln	rs887536064	missense variant	-	NC_000008.11:g.71271820T>G	TOPMed
EYA1	Q99502	p.Lys302Arg	rs1305721914	missense variant	-	NC_000008.11:g.71271819T>C	gnomAD
EYA1	Q99502	p.Arg304His	rs1036380891	missense variant	-	NC_000008.11:g.71271813C>T	gnomAD
EYA1	Q99502	p.Arg304Cys	rs772877702	missense variant	-	NC_000008.11:g.71271814G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg306Trp	rs761539105	missense variant	-	NC_000008.11:g.71271808G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg306Gln	rs373250373	missense variant	-	NC_000008.11:g.71271807C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly307Val	rs1435743529	missense variant	-	NC_000008.11:g.71271804C>A	TOPMed
EYA1	Q99502	p.Gly307Asp	rs1435743529	missense variant	-	NC_000008.11:g.71271804C>T	TOPMed
EYA1	Q99502	p.Arg308Gln	RCV000379541	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271801C>T	ClinVar
EYA1	Q99502	p.Arg308Gln	RCV000266374	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271801C>T	ClinVar
EYA1	Q99502	p.Arg308Ter	RCV000844696	nonsense	Rare genetic deafness	NC_000008.11:g.71271802G>A	ClinVar
EYA1	Q99502	p.Arg308Gln	rs369822742	missense variant	-	NC_000008.11:g.71271801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg308Gly	rs121909195	missense variant	-	NC_000008.11:g.71271802G>C	ExAC,gnomAD
EYA1	Q99502	p.Arg308Ter	rs121909195	stop gained	-	NC_000008.11:g.71271802G>A	ExAC,gnomAD
EYA1	Q99502	p.Arg308Ter	RCV000008391	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271802G>A	ClinVar
EYA1	Q99502	p.Arg309Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71271799T>C	NCI-TCGA
EYA1	Q99502	p.Asn310Asp	rs1299287501	missense variant	-	NC_000008.11:g.71271796T>C	TOPMed,gnomAD
EYA1	Q99502	p.Asn310Lys	rs745910111	missense variant	-	NC_000008.11:g.71271794G>T	ExAC,gnomAD
EYA1	Q99502	p.Asn312Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71271789T>C	NCI-TCGA
EYA1	Q99502	p.Asn312Lys	COSM1458105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271788A>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Pro313Leu	rs868681957	missense variant	-	NC_000008.11:g.71271786G>A	-
EYA1	Q99502	p.Pro316Ser	rs1389336466	missense variant	-	NC_000008.11:g.71271778G>A	gnomAD
EYA1	Q99502	p.Pro317Ser	COSM5919556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71271775G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Asp318Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71271770A>C	NCI-TCGA
EYA1	Q99502	p.Ser319Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71271768G>T	NCI-TCGA
EYA1	Q99502	p.Glu322Gln	rs754882532	missense variant	-	NC_000008.11:g.71271760C>G	ExAC,gnomAD
EYA1	Q99502	p.Val324Ala	rs1431798771	missense variant	-	NC_000008.11:g.71269819A>G	gnomAD
EYA1	Q99502	p.Phe325Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71269816A>G	NCI-TCGA
EYA1	Q99502	p.Phe325Leu	rs1345089916	missense variant	-	NC_000008.11:g.71269815G>T	TOPMed
EYA1	Q99502	p.Asp328Asn	rs1177416665	missense variant	-	NC_000008.11:g.71269808C>T	gnomAD
EYA1	Q99502	p.Thr332Ala	COSM1101454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71269796T>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Ile333Val	rs1480195366	missense variant	-	NC_000008.11:g.71269793T>C	gnomAD
EYA1	Q99502	p.Ile334Val	rs1220662407	missense variant	-	NC_000008.11:g.71269790T>C	TOPMed
EYA1	Q99502	p.His337Tyr	COSM119900	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71269781G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser338Ter	RCV000634144	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269775_71269778del	ClinVar
EYA1	Q99502	p.Thr341Ile	rs1266528712	missense variant	-	NC_000008.11:g.71269768G>A	gnomAD
EYA1	Q99502	p.Thr341Ala	COSM4855040	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71269769T>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Gly342Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71269766C>A	NCI-TCGA
EYA1	Q99502	p.Ala345Thr	rs770168786	missense variant	-	NC_000008.11:g.71269757C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg347Thr	rs1202903388	missense variant	-	NC_000008.11:g.71269750C>G	gnomAD
EYA1	Q99502	p.Tyr348Ter	RCV000625536	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269746A>C	ClinVar
EYA1	Q99502	p.Tyr348Ter	rs1554615511	stop gained	-	NC_000008.11:g.71269746A>C	-
EYA1	Q99502	p.Pro352Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71244689G>A	NCI-TCGA
EYA1	Q99502	p.Pro352Thr	COSM6113972	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71244689G>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Arg361Ter	RCV000008406	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71244662G>A	ClinVar
EYA1	Q99502	p.Arg361Gln	rs145219836	missense variant	-	NC_000008.11:g.71244661C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg361Ter	rs121909202	stop gained	-	NC_000008.11:g.71244662G>A	gnomAD
EYA1	Q99502	p.Arg361Ter	RCV000008405	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71244662G>A	ClinVar
EYA1	Q99502	p.Arg361Leu	COSM43007	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71244661C>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Met362Ile	rs907099635	missense variant	-	NC_000008.11:g.71244657C>T	TOPMed
EYA1	Q99502	p.Glu363Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71244656C>G	NCI-TCGA
EYA1	Q99502	p.Glu363Lys	RCV000008399	missense variant	Anterior segment anomalies	NC_000008.11:g.71244656C>T	ClinVar
EYA1	Q99502	p.Glu363Lys	rs121909198	missense variant	-	NC_000008.11:g.71244656C>T	-
EYA1	Q99502	p.Glu363Lys	rs121909198	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt,dbSNP
EYA1	Q99502	p.Glu363Lys	VAR_016864	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt
EYA1	Q99502	p.Glu363Val	VAR_064944	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Glu364Ter	RCV000221224	nonsense	Rare genetic deafness	NC_000008.11:g.71244653C>A	ClinVar
EYA1	Q99502	p.Glu364Ter	rs876657689	stop gained	-	NC_000008.11:g.71244653C>A	-
EYA1	Q99502	p.Glu364Asp	rs778958308	missense variant	-	NC_000008.11:g.71244651T>G	ExAC,gnomAD
EYA1	Q99502	p.Met365Thr	rs1484562404	missense variant	-	NC_000008.11:g.71244649A>G	TOPMed
EYA1	Q99502	p.Asn368Asp	rs1410388380	missense variant	-	NC_000008.11:g.71244641T>C	gnomAD
EYA1	Q99502	p.Asn368Ser	rs757164392	missense variant	-	NC_000008.11:g.71244640T>C	ExAC,gnomAD
EYA1	Q99502	p.Leu369Phe	RCV000149002	missense variant	Malignant tumor of prostate	NC_000008.11:g.71244636C>A	ClinVar
EYA1	Q99502	p.Leu369Phe	rs193920835	missense variant	-	NC_000008.11:g.71244636C>A	ExAC,gnomAD
EYA1	Q99502	p.Ala370Ser	COSM1101451	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71244635C>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Thr372Ile	rs777268280	missense variant	-	NC_000008.11:g.71244628G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His373Ter	RCV000255636	frameshift	-	NC_000008.11:g.71244626_71244627GT[2]	ClinVar
EYA1	Q99502	p.His373Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71244625T>G	NCI-TCGA
EYA1	Q99502	p.His373Tyr	rs371974738	missense variant	-	NC_000008.11:g.71244626G>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Leu374Ter	RCV000041385	frameshift	Rare genetic deafness	NC_000008.11:g.71244621del	ClinVar
EYA1	Q99502	p.Phe375Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71244619A>C	NCI-TCGA
EYA1	Q99502	p.Phe376LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.71244615A>-	NCI-TCGA
EYA1	Q99502	p.Asp378Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71244610T>C	NCI-TCGA
EYA1	Q99502	p.Asp378Tyr	rs1421127358	missense variant	-	NC_000008.11:g.71244611C>A	TOPMed
EYA1	Q99502	p.Glu381Gln	rs751887655	missense variant	-	NC_000008.11:g.71217023C>G	ExAC,gnomAD
EYA1	Q99502	p.Glu381Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71217023C>T	NCI-TCGA
EYA1	Q99502	p.Cys382Arg	rs766669312	missense variant	-	NC_000008.11:g.71217020A>G	ExAC,gnomAD
EYA1	Q99502	p.Cys382Tyr	rs1385811609	missense variant	-	NC_000008.11:g.71217019C>T	TOPMed,gnomAD
EYA1	Q99502	p.Asp383Glu	rs1338058043	missense variant	-	NC_000008.11:g.71217015G>T	gnomAD
EYA1	Q99502	p.Val385Leu	rs1470014710	missense variant	-	NC_000008.11:g.71217011C>G	gnomAD
EYA1	Q99502	p.His386Tyr	rs751039720	missense variant	-	NC_000008.11:g.71217008G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp389MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.71216999C>-	NCI-TCGA
EYA1	Q99502	p.Val390Ala	rs762034700	missense variant	-	NC_000008.11:g.71216995A>G	ExAC,gnomAD
EYA1	Q99502	p.Val390Gly	rs762034700	missense variant	-	NC_000008.11:g.71216995A>C	ExAC,gnomAD
EYA1	Q99502	p.Asn395Lys	rs372488542	missense variant	-	NC_000008.11:g.71216979G>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly396Arg	RCV000150674	missense variant	-	NC_000008.11:g.71216978C>T	ClinVar
EYA1	Q99502	p.Gly396Arg	rs727503047	missense variant	-	NC_000008.11:g.71216978C>T	gnomAD
EYA1	Q99502	p.Gln397Arg	rs760811461	missense variant	-	NC_000008.11:g.71216974T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp398Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216970G>T	NCI-TCGA
EYA1	Q99502	p.Thr406Arg	rs376251253	missense variant	-	NC_000008.11:g.71216835G>C	ESP
EYA1	Q99502	p.Thr406Ile	COSM1101450	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216835G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Pro410Ser	COSM3650718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216824G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Ala411Pro	rs1392799354	missense variant	-	NC_000008.11:g.71216821C>G	TOPMed,gnomAD
EYA1	Q99502	p.Ala412Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216817G>A	NCI-TCGA
EYA1	Q99502	p.Ala412Gly	rs1388902851	missense variant	-	NC_000008.11:g.71216817G>C	TOPMed
EYA1	Q99502	p.Ala413Val	rs1325043214	missense variant	-	NC_000008.11:g.71216814G>A	TOPMed
EYA1	Q99502	p.Ser415Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216808C>T	NCI-TCGA
EYA1	Q99502	p.Ser415Arg	rs769657024	missense variant	-	NC_000008.11:g.71216807A>C	ExAC,gnomAD
EYA1	Q99502	p.Cys419Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216796C>T	NCI-TCGA
EYA1	Q99502	p.Cys419Arg	rs761755658	missense variant	-	NC_000008.11:g.71216797A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu420Phe	rs768120097	missense variant	-	NC_000008.11:g.71216792C>G	ExAC,gnomAD
EYA1	Q99502	p.Leu420Phe	rs768120097	missense variant	-	NC_000008.11:g.71216792C>A	ExAC,gnomAD
EYA1	Q99502	p.Thr422Pro	rs779623204	missense variant	-	NC_000008.11:g.71216788T>G	ExAC,gnomAD
EYA1	Q99502	p.Thr422Ser	rs779623204	missense variant	-	NC_000008.11:g.71216788T>A	ExAC,gnomAD
EYA1	Q99502	p.Gly423Ala	rs771779342	missense variant	-	NC_000008.11:g.71216784C>G	ExAC,gnomAD
EYA1	Q99502	p.Gly423Val	rs771779342	missense variant	-	NC_000008.11:g.71216784C>A	ExAC,gnomAD
EYA1	Q99502	p.Val424Ile	rs746195192	missense variant	-	NC_000008.11:g.71216782C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg425Trp	rs779423947	missense variant	-	NC_000008.11:g.71216779G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg425Gln	rs757780695	missense variant	-	NC_000008.11:g.71216778C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg425Gly	rs779423947	missense variant	-	NC_000008.11:g.71216779G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly426Ser	rs121909199	missense variant	-	NC_000008.11:g.71216776C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly426Ala	rs1181243766	missense variant	-	NC_000008.11:g.71216775C>G	gnomAD
EYA1	Q99502	p.Gly426Ser	rs121909199	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt,dbSNP
EYA1	Q99502	p.Gly426Ser	VAR_016865	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt
EYA1	Q99502	p.Gly426Ser	RCV000309264	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71216776C>T	ClinVar
EYA1	Q99502	p.Gly426Ser	RCV000367199	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71216776C>T	ClinVar
EYA1	Q99502	p.Gly427Asp	rs752939522	missense variant	-	NC_000008.11:g.71216772C>T	ExAC,gnomAD
EYA1	Q99502	p.Gly427Ser	rs756186032	missense variant	-	NC_000008.11:g.71216773C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val428Met	rs1488650592	missense variant	-	NC_000008.11:g.71216770C>T	TOPMed
EYA1	Q99502	p.Asp429Gly	VAR_016866	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Met431Thr	rs1211420496	missense variant	-	NC_000008.11:g.71216760A>G	TOPMed
EYA1	Q99502	p.Arg432Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216757C>G	NCI-TCGA
EYA1	Q99502	p.Arg432Gly	rs1267032760	missense variant	-	NC_000008.11:g.71216758T>C	TOPMed
EYA1	Q99502	p.Arg432Lys	rs727503046	missense variant	-	NC_000008.11:g.71216757C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg432Lys	RCV000150672	missense variant	-	NC_000008.11:g.71216757C>T	ClinVar
EYA1	Q99502	p.Lys433Arg	rs759781016	missense variant	-	NC_000008.11:g.71216754T>C	ExAC,gnomAD
EYA1	Q99502	p.Ala435Thr	rs138550731	missense variant	-	NC_000008.11:g.71216749C>T	1000Genomes
EYA1	Q99502	p.Phe436Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216746A>C	NCI-TCGA
EYA1	Q99502	p.Phe436Ser	COSM4405250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216745A>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Arg437Cys	rs1240529273	missense variant	-	NC_000008.11:g.71216743G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg437His	rs750164019	missense variant	-	NC_000008.11:g.71216742C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg437Ser	rs1240529273	missense variant	-	NC_000008.11:g.71216743G>T	TOPMed,gnomAD
EYA1	Q99502	p.Arg437Pro	COSM4862493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216742C>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Tyr438His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216740A>G	NCI-TCGA
EYA1	Q99502	p.Tyr438Cys	rs1374801818	missense variant	-	NC_000008.11:g.71216739T>C	TOPMed,gnomAD
EYA1	Q99502	p.Tyr438Phe	rs1374801818	missense variant	-	NC_000008.11:g.71216739T>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg440Trp	RCV000219608	missense variant	-	NC_000008.11:g.71216734G>A	ClinVar
EYA1	Q99502	p.Arg440Gln	rs121909196	missense variant	-	NC_000008.11:g.71216733C>T	-
EYA1	Q99502	p.Arg440Gln	rs121909196	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt,dbSNP
EYA1	Q99502	p.Arg440Gln	VAR_016867	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt
EYA1	Q99502	p.Arg440Trp	rs376931849	missense variant	-	NC_000008.11:g.71216734G>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Arg440Gln	RCV000844628	missense variant	Rare genetic deafness	NC_000008.11:g.71216733C>T	ClinVar
EYA1	Q99502	p.Arg440Gln	RCV000008397	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216733C>T	ClinVar
EYA1	Q99502	p.Val441Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216730A>G	NCI-TCGA
EYA1	Q99502	p.Val441Leu	COSM6181616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71216731C>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Lys442SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.71216727_71216728insCCTACAGGGTAAATAC	NCI-TCGA
EYA1	Q99502	p.Glu443Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216723C>A	NCI-TCGA
EYA1	Q99502	p.Glu443Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216725C>G	NCI-TCGA
EYA1	Q99502	p.Glu443Ter	RCV000634146	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216723_71216724CT[1]	ClinVar
EYA1	Q99502	p.Ile444Phe	rs533769812	missense variant	-	NC_000008.11:g.71216722T>A	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Tyr445Cys	rs1406115296	missense variant	-	NC_000008.11:g.71216718T>C	gnomAD
EYA1	Q99502	p.Thr447Ile	rs771783731	missense variant	-	NC_000008.11:g.71216712G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr447Ala	rs775097398	missense variant	-	NC_000008.11:g.71216713T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr448Cys	rs779406323	missense variant	-	NC_000008.11:g.71216709T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr448His	rs373851946	missense variant	-	NC_000008.11:g.71216710A>G	ESP
EYA1	Q99502	p.Asn450LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.71216702_71216703insT	NCI-TCGA
EYA1	Q99502	p.Asn451Ser	rs1471693639	missense variant	-	NC_000008.11:g.71216700T>C	gnomAD
EYA1	Q99502	p.Val452Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71216698C>T	NCI-TCGA
EYA1	Q99502	p.Pro458Ala	rs771397353	missense variant	-	NC_000008.11:g.71215717G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala459Gly	rs1428992631	missense variant	-	NC_000008.11:g.71215713G>C	TOPMed,gnomAD
EYA1	Q99502	p.Ala459Pro	COSM3650713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215714C>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Glu462Lys	rs770129052	missense variant	-	NC_000008.11:g.71215705C>T	ExAC,gnomAD
EYA1	Q99502	p.Glu462Asp	rs997974243	missense variant	-	NC_000008.11:g.71215703T>A	TOPMed
EYA1	Q99502	p.Glu462Asp	COSM3901376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215703T>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Ala463Thr	rs1263352919	missense variant	-	NC_000008.11:g.71215702C>T	TOPMed,gnomAD
EYA1	Q99502	p.Ala463Val	rs1201441499	missense variant	-	NC_000008.11:g.71215701G>A	gnomAD
EYA1	Q99502	p.Leu467Phe	rs781247880	missense variant	-	NC_000008.11:g.71215688C>G	ExAC,gnomAD
EYA1	Q99502	p.Arg468Lys	rs755093166	missense variant	-	NC_000008.11:g.71215686C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg468Gly	rs727503044	missense variant	-	NC_000008.11:g.71215687T>C	-
EYA1	Q99502	p.Arg468Gly	RCV000150670	missense variant	-	NC_000008.11:g.71215687T>C	ClinVar
EYA1	Q99502	p.Ala469Thr	rs1366511376	missense variant	-	NC_000008.11:g.71215684C>T	gnomAD
EYA1	Q99502	p.Glu470Lys	rs780203392	missense variant	-	NC_000008.11:g.71215681C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu470Ala	COSM4400675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215680T>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Ile471Phe	rs1326367793	missense variant	-	NC_000008.11:g.71215678T>A	TOPMed
EYA1	Q99502	p.Ala473Ser	COSM6181618	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215672C>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Thr475Asn	rs1337631504	missense variant	-	NC_000008.11:g.71215665G>T	gnomAD
EYA1	Q99502	p.Asp476Asn	RCV000221919	missense variant	-	NC_000008.11:g.71215663C>T	ClinVar
EYA1	Q99502	p.Asp476Asn	rs371408686	missense variant	-	NC_000008.11:g.71215663C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser477Cys	rs755991512	missense variant	-	NC_000008.11:g.71215659G>C	ExAC,gnomAD
EYA1	Q99502	p.Trp478Leu	rs1475718221	missense variant	-	NC_000008.11:g.71215656C>A	gnomAD
EYA1	Q99502	p.Leu479Val	rs752745332	missense variant	-	NC_000008.11:g.71215654A>C	ExAC
EYA1	Q99502	p.Leu479Phe	rs1320843367	missense variant	-	NC_000008.11:g.71215652C>G	TOPMed
EYA1	Q99502	p.Leu481Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71215648G>T	NCI-TCGA
EYA1	Q99502	p.Leu481Val	rs767104377	missense variant	-	NC_000008.11:g.71215648G>C	ExAC,gnomAD
EYA1	Q99502	p.Ala482Val	COSM3432548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215644G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Ala485Val	rs778970223	missense variant	-	NC_000008.11:g.71215635G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser487Leu	RCV000289230	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71215629G>A	ClinVar
EYA1	Q99502	p.Ser487Pro	RCV000008402	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215630A>G	ClinVar
EYA1	Q99502	p.Ser487Leu	rs139717960	missense variant	-	NC_000008.11:g.71215629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser487Pro	rs121909200	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt,dbSNP
EYA1	Q99502	p.Ser487Pro	VAR_005203	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt
EYA1	Q99502	p.Ser487Pro	rs121909200	missense variant	-	NC_000008.11:g.71215630A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser487Leu	RCV000401819	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71215629G>A	ClinVar
EYA1	Q99502	p.His490Asn	rs748575456	missense variant	-	NC_000008.11:g.71215621G>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His490Tyr	rs748575456	missense variant	-	NC_000008.11:g.71215621G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser491Cys	rs769175446	missense variant	-	NC_000008.11:g.71215617G>C	ExAC,gnomAD
EYA1	Q99502	p.Arg492Trp	rs1226367549	missense variant	-	NC_000008.11:g.71215615G>A	gnomAD
EYA1	Q99502	p.Cys495Ser	RCV000681783	missense variant	-	NC_000008.11:g.71215501A>T	ClinVar
EYA1	Q99502	p.Val496Met	COSM3901370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215498C>T	NCI-TCGA Cosmic
EYA1	Q99502	p.Asn497Asp	rs779243288	missense variant	-	NC_000008.11:g.71215495T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile498Val	rs374397914	missense variant	-	NC_000008.11:g.71215492T>C	ESP,ExAC,gnomAD
EYA1	Q99502	p.Leu499Ser	rs963923024	missense variant	-	NC_000008.11:g.71215488A>G	TOPMed
EYA1	Q99502	p.Thr501Ter	RCV000008407	frameshift	Branchiootic syndrome (BOS1)	NC_000008.11:g.71215479_71215485del	ClinVar
EYA1	Q99502	p.Leu505Arg	RCV000008403	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215470A>C	ClinVar
EYA1	Q99502	p.Leu505Arg	rs121909201	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt,dbSNP
EYA1	Q99502	p.Leu505Arg	VAR_005204	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt
EYA1	Q99502	p.Leu505Arg	rs121909201	missense variant	-	NC_000008.11:g.71215470A>C	-
EYA1	Q99502	p.Ala508Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71215462C>A	NCI-TCGA
EYA1	Q99502	p.Ala508Val	rs754901033	missense variant	-	NC_000008.11:g.71215461G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala510Thr	rs1180421427	missense variant	-	NC_000008.11:g.71215456C>T	TOPMed,gnomAD
EYA1	Q99502	p.Lys511Ter	rs1057520766	stop gained	-	NC_000008.11:g.71215453T>A	TOPMed
EYA1	Q99502	p.Lys511Glu	rs1057520766	missense variant	-	NC_000008.11:g.71215453T>C	TOPMed
EYA1	Q99502	p.Lys511Ter	RCV000420560	nonsense	-	NC_000008.11:g.71215453T>A	ClinVar
EYA1	Q99502	p.Tyr515His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71215441A>G	NCI-TCGA
EYA1	Q99502	p.Gly518Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.71215432C>A	NCI-TCGA
EYA1	Q99502	p.Gly518Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71215432C>T	NCI-TCGA
EYA1	Q99502	p.Gly518Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71215431C>T	NCI-TCGA
EYA1	Q99502	p.Ile519Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71215428A>T	NCI-TCGA
EYA1	Q99502	p.Phe521Leu	rs757978078	missense variant	-	NC_000008.11:g.71215423A>G	ExAC,gnomAD
EYA1	Q99502	p.Pro522Ser	rs1216806432	missense variant	-	NC_000008.11:g.71215420G>A	TOPMed,gnomAD
EYA1	Q99502	p.Pro522Ala	COSM3650707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215420G>C	NCI-TCGA Cosmic
EYA1	Q99502	p.Ile523Thr	rs749926851	missense variant	-	NC_000008.11:g.71215416A>G	ExAC,gnomAD
EYA1	Q99502	p.Ile523Val	rs1286346149	missense variant	-	NC_000008.11:g.71215417T>C	gnomAD
EYA1	Q99502	p.Ile526Val	rs764905187	missense variant	-	NC_000008.11:g.71215408T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr527Asn	rs397517918	missense variant	-	NC_000008.11:g.71215405A>T	-
EYA1	Q99502	p.Tyr527Asn	RCV000041389	missense variant	Rare genetic deafness	NC_000008.11:g.71215405A>T	ClinVar
EYA1	Q99502	p.Tyr527Cys	VAR_064946	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Ile532Leu	COSM1101448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71215390T>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Gly533Arg	RCV000681852	missense variant	-	NC_000008.11:g.71215387C>G	ClinVar
EYA1	Q99502	p.Lys534Asn	COSM3901368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71211252T>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Glu535Lys	rs756891032	missense variant	-	NC_000008.11:g.71211251C>T	ExAC,gnomAD
EYA1	Q99502	p.Glu535Ter	COSM1101447	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.71211251C>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Glu535Asp	COSM3650705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71211249T>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Cys537Ser	rs1271698025	missense variant	-	NC_000008.11:g.71211244C>G	TOPMed
EYA1	Q99502	p.Cys537Arg	RCV000634145	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211245A>G	ClinVar
EYA1	Q99502	p.Cys537Arg	rs1554594182	missense variant	-	NC_000008.11:g.71211245A>G	-
EYA1	Q99502	p.Glu539Ter	RCV000477858	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71211239C>A	ClinVar
EYA1	Q99502	p.Glu539Ter	rs1060499603	stop gained	-	NC_000008.11:g.71211239C>A	-
EYA1	Q99502	p.Arg540Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71211235C>A	NCI-TCGA
EYA1	Q99502	p.Arg540Ser	rs979889982	missense variant	-	NC_000008.11:g.71211234T>A	TOPMed,gnomAD
EYA1	Q99502	p.Ile541Leu	rs753553594	missense variant	-	NC_000008.11:g.71211233T>G	ExAC,gnomAD
EYA1	Q99502	p.Ile541Val	rs753553594	missense variant	-	NC_000008.11:g.71211233T>C	ExAC,gnomAD
EYA1	Q99502	p.Ile542Asn	rs1410459961	missense variant	-	NC_000008.11:g.71211229A>T	gnomAD
EYA1	Q99502	p.Ile542Met	rs764411004	missense variant	-	NC_000008.11:g.71211228A>C	ExAC
EYA1	Q99502	p.Ile542Leu	COSM4839080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71211230T>G	NCI-TCGA Cosmic
EYA1	Q99502	p.Arg544Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71211223C>A	NCI-TCGA
EYA1	Q99502	p.Arg544Lys	rs756517701	missense variant	-	NC_000008.11:g.71211223C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg544Ser	COSM3901367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71211222C>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Phe545Ser	rs1392532916	missense variant	-	NC_000008.11:g.71211220A>G	gnomAD
EYA1	Q99502	p.Arg547Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71211214C>G	NCI-TCGA
EYA1	Q99502	p.Arg547Gly	rs121909197	missense variant	-	NC_000008.11:g.71211215T>C	-
EYA1	Q99502	p.Arg547Gly	rs121909197	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt,dbSNP
EYA1	Q99502	p.Arg547Gly	VAR_016868	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt
EYA1	Q99502	p.Arg547Gly	RCV000008398	missense variant	Anterior segment anomalies and cataract	NC_000008.11:g.71211215T>C	ClinVar
EYA1	Q99502	p.Val549Ala	rs753024835	missense variant	-	NC_000008.11:g.71211208A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile554Thr	rs1475511000	missense variant	-	NC_000008.11:g.71211193A>G	TOPMed
EYA1	Q99502	p.Ile554Leu	rs1422893057	missense variant	-	NC_000008.11:g.71211194T>A	TOPMed
EYA1	Q99502	p.Gly557Ala	rs766423472	missense variant	-	NC_000008.11:g.71211184C>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val558Ala	rs376013085	missense variant	-	NC_000008.11:g.71211181A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu561Gln	rs1457532578	missense variant	-	NC_000008.11:g.71211173C>G	TOPMed
EYA1	Q99502	p.Gln562Ter	RCV000536666	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211170G>A	ClinVar
EYA1	Q99502	p.Gln562Arg	rs916761910	missense variant	-	NC_000008.11:g.71211169T>C	TOPMed
EYA1	Q99502	p.Gln562Glu	rs1481254965	missense variant	-	NC_000008.11:g.71211170G>C	TOPMed,gnomAD
EYA1	Q99502	p.Gln562Ter	rs1481254965	stop gained	-	NC_000008.11:g.71211170G>A	TOPMed,gnomAD
EYA1	Q99502	p.Gly563Arg	rs1429589719	missense variant	-	NC_000008.11:g.71211167C>T	gnomAD
EYA1	Q99502	p.Gly563Glu	rs1180940999	missense variant	-	NC_000008.11:g.71211166C>T	gnomAD
EYA1	Q99502	p.Ala564Gly	rs549524090	missense variant	-	NC_000008.11:g.71211163G>C	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala564Glu	rs549524090	missense variant	-	NC_000008.11:g.71211163G>T	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala564Thr	rs1471350873	missense variant	-	NC_000008.11:g.71211164C>T	gnomAD
EYA1	Q99502	p.Lys565Ile	rs1318210474	missense variant	-	NC_000008.11:g.71211160T>A	TOPMed
EYA1	Q99502	p.Lys565Glu	rs1309239827	missense variant	-	NC_000008.11:g.71211161T>C	gnomAD
EYA1	Q99502	p.Lys565Ter	RCV000008396	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211156_71211159del	ClinVar
EYA1	Q99502	p.Lys566SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.71211157T>-	NCI-TCGA
EYA1	Q99502	p.Lys566Thr	rs143798228	missense variant	-	NC_000008.11:g.71211157T>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Lys566Arg	rs143798228	missense variant	-	NC_000008.11:g.71211157T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Lys566Ter	RCV000041390	frameshift	Rare genetic deafness	NC_000008.11:g.71211156_71211157insA	ClinVar
EYA1	Q99502	p.His567AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.71211156_71211157insT	NCI-TCGA
EYA1	Q99502	p.His567Gln	rs763080811	missense variant	-	NC_000008.11:g.71199418G>T	ExAC,gnomAD
EYA1	Q99502	p.Ala568Thr	rs773461292	missense variant	-	NC_000008.11:g.71199417C>T	ExAC,gnomAD
EYA1	Q99502	p.Ala568Val	rs765493132	missense variant	-	NC_000008.11:g.71199416G>A	ExAC,gnomAD
EYA1	Q99502	p.Met569Thr	VAR_064947	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Pro570Ser	COSM5409832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71199411G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Phe571Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71199408A>G	NCI-TCGA
EYA1	Q99502	p.Trp572Ter	RCV000486264	frameshift	-	NC_000008.11:g.71199405dup	ClinVar
EYA1	Q99502	p.Arg573Gly	rs775343638	missense variant	-	NC_000008.11:g.71199402T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile574Thr	rs771831582	missense variant	-	NC_000008.11:g.71199398A>G	ExAC,gnomAD
EYA1	Q99502	p.Ile574Val	rs1048727343	missense variant	-	NC_000008.11:g.71199399T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser575Pro	rs745786446	missense variant	-	NC_000008.11:g.71199396A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser575Cys	rs774201991	missense variant	-	NC_000008.11:g.71199395G>C	ExAC,gnomAD
EYA1	Q99502	p.His577Tyr	COSM3650703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.71199390G>A	NCI-TCGA Cosmic
EYA1	Q99502	p.Ser578Leu	rs900450966	missense variant	-	NC_000008.11:g.71199386G>A	gnomAD
EYA1	Q99502	p.Asp579Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.71199384C>A	NCI-TCGA
EYA1	Q99502	p.Leu583Pro	RCV000763604	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71199371A>G	ClinVar
EYA1	Q99502	p.Leu583Pro	rs397517920	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt,dbSNP
EYA1	Q99502	p.Leu583Pro	VAR_016869	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt
EYA1	Q99502	p.Leu583Pro	rs397517920	missense variant	-	NC_000008.11:g.71199371A>G	-
EYA1	Q99502	p.Leu583Pro	RCV000041392	missense variant	Rare genetic deafness	NC_000008.11:g.71199371A>G	ClinVar
EYA1	Q99502	p.Asp5Ala	rs767080375	missense variant	-	NC_000008.11:g.71354892T>G	ExAC
EYA1	Q99502	p.Ser8Asn	rs1393157586	missense variant	-	NC_000008.11:g.71354883C>T	TOPMed,gnomAD
EYA1	Q99502	p.Pro9Leu	RCV000762522	missense variant	-	NC_000008.11:g.71354880G>A	ClinVar
EYA1	Q99502	p.Pro9Leu	rs766713665	missense variant	-	NC_000008.11:g.71354880G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro9Arg	rs766713665	missense variant	-	NC_000008.11:g.71354880G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His10Arg	rs1052858465	missense variant	-	NC_000008.11:g.71354877T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser11Asn	rs1164012590	missense variant	-	NC_000008.11:g.71354874C>T	gnomAD
EYA1	Q99502	p.Arg12Pro	rs74720958	missense variant	-	NC_000008.11:g.71354871C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg12Cys	rs530921368	missense variant	-	NC_000008.11:g.71354872G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg12His	rs74720958	missense variant	-	NC_000008.11:g.71354871C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu13Val	rs776514587	missense variant	-	NC_000008.11:g.71354869G>C	ExAC,gnomAD
EYA1	Q99502	p.Leu13Gln	rs768783796	missense variant	-	NC_000008.11:g.71354868A>T	ExAC,gnomAD
EYA1	Q99502	p.Ser17Asn	rs780483424	missense variant	-	NC_000008.11:g.71354856C>T	ExAC,gnomAD
EYA1	Q99502	p.Ser17Gly	rs747231434	missense variant	-	NC_000008.11:g.71354857T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	RCV000711621	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	rs1445404	missense variant	-	NC_000008.11:g.71354848G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	rs1445404	missense variant	-	NC_000008.11:g.71354848G>C	UniProt,dbSNP
EYA1	Q99502	p.Pro20Ala	VAR_024439	missense variant	-	NC_000008.11:g.71354848G>C	UniProt
EYA1	Q99502	p.Pro20Thr	rs1445404	missense variant	-	NC_000008.11:g.71354848G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	RCV000310360	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000041394	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000406094	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Gly22Asp	RCV000150678	missense variant	-	NC_000008.11:g.71354841C>T	ClinVar
EYA1	Q99502	p.Gly22Asp	rs727503049	missense variant	-	NC_000008.11:g.71354841C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu25Ile	rs752696368	missense variant	-	NC_000008.11:g.71354833G>T	ExAC,gnomAD
EYA1	Q99502	p.Gly26Ser	rs199664417	missense variant	-	NC_000008.11:g.71354830C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly26Cys	rs199664417	missense variant	-	NC_000008.11:g.71354830C>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn27Thr	rs751187504	missense variant	-	NC_000008.11:g.71354826T>G	ExAC,gnomAD
EYA1	Q99502	p.Ser28Cys	rs558089479	missense variant	-	NC_000008.11:g.71354823G>C	ExAC,gnomAD
EYA1	Q99502	p.Ile30Val	RCV000607103	missense variant	-	NC_000008.11:g.71354818T>C	ClinVar
EYA1	Q99502	p.Ile30Val	rs1554565600	missense variant	-	NC_000008.11:g.71354818T>C	-
EYA1	Q99502	p.Ile30Met	rs1486534014	missense variant	-	NC_000008.11:g.71354816T>C	gnomAD
EYA1	Q99502	p.Thr36Ile	RCV000150677	missense variant	-	NC_000008.11:g.71354799G>A	ClinVar
EYA1	Q99502	p.Thr36Ile	rs727503048	missense variant	-	NC_000008.11:g.71354799G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Ile	rs750274491	missense variant	-	NC_000008.11:g.71354793T>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Ser	rs750274491	missense variant	-	NC_000008.11:g.71354793T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Asp	rs765646278	missense variant	-	NC_000008.11:g.71354794T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly39Asp	rs267601985	missense variant	-	NC_000008.11:g.71354790C>T	-
EYA1	Q99502	p.Thr40Ala	rs1196497532	missense variant	-	NC_000008.11:g.71354788T>C	TOPMed,gnomAD
EYA1	Q99502	p.Glu41Gln	RCV000234887	missense variant	Renal hypoplasia	NC_000008.11:g.71354785C>G	ClinVar
EYA1	Q99502	p.Glu41Gln	rs561111097	missense variant	-	NC_000008.11:g.71354785C>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu41Lys	rs561111097	missense variant	-	NC_000008.11:g.71354785C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu41Lys	rs561111097	missense variant	-	NC_000008.11:g.71354785C>T	UniProt,dbSNP
EYA1	Q99502	p.Glu41Lys	VAR_070033	missense variant	-	NC_000008.11:g.71354785C>T	UniProt
EYA1	Q99502	p.Thr44Ile	rs774402195	missense variant	-	NC_000008.11:g.71334168G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu45Lys	rs1373021054	missense variant	-	NC_000008.11:g.71334166C>T	gnomAD
EYA1	Q99502	p.Met47Thr	rs1323652552	missense variant	-	NC_000008.11:g.71334159A>G	gnomAD
EYA1	Q99502	p.Ser49Asn	rs958156575	missense variant	-	NC_000008.11:g.71334153C>T	TOPMed
EYA1	Q99502	p.Thr52Ile	rs200206302	missense variant	-	NC_000008.11:g.71334144G>A	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala53Val	rs776352141	missense variant	-	NC_000008.11:g.71334141G>A	ExAC,gnomAD
EYA1	Q99502	p.Thr55Met	RCV000416584	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71334135G>A	ClinVar
EYA1	Q99502	p.Thr55Ala	rs139194909	missense variant	-	NC_000008.11:g.71334136T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr55Met	rs201434219	missense variant	-	NC_000008.11:g.71334135G>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr56Ala	rs1248918883	missense variant	-	NC_000008.11:g.71334133T>C	gnomAD
EYA1	Q99502	p.Thr56Ile	rs1199697219	missense variant	-	NC_000008.11:g.71334132G>A	gnomAD
EYA1	Q99502	p.Asp58Glu	rs370509332	missense variant	-	NC_000008.11:g.71334125G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp58Asn	rs756885537	missense variant	-	NC_000008.11:g.71334127C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly59Arg	rs146216506	missense variant	-	NC_000008.11:g.71334124C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser65Leu	rs1389200174	missense variant	-	NC_000008.11:g.71334105G>A	TOPMed
EYA1	Q99502	p.Gly66Cys	RCV000342060	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71334103C>A	ClinVar
EYA1	Q99502	p.Gly66Cys	rs886063089	missense variant	-	NC_000008.11:g.71334103C>A	TOPMed,gnomAD
EYA1	Q99502	p.Gly66Val	rs149289196	missense variant	-	NC_000008.11:g.71334102C>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly66Cys	RCV000303649	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71334103C>A	ClinVar
EYA1	Q99502	p.Ala68Pro	rs1169615269	missense variant	-	NC_000008.11:g.71334097C>G	TOPMed
EYA1	Q99502	p.Ala68Ser	rs1169615269	missense variant	-	NC_000008.11:g.71334097C>A	TOPMed
EYA1	Q99502	p.Ile69Val	rs1032162749	missense variant	-	NC_000008.11:g.71322266T>C	gnomAD
EYA1	Q99502	p.Ile69Thr	rs371059560	missense variant	-	NC_000008.11:g.71322265A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile69Leu	rs1032162749	missense variant	-	NC_000008.11:g.71322266T>G	gnomAD
EYA1	Q99502	p.Ser71Asn	rs1462564075	missense variant	-	NC_000008.11:g.71322259C>T	TOPMed
EYA1	Q99502	p.Ser72Gly	rs1275882788	missense variant	-	NC_000008.11:g.71322257T>C	gnomAD
EYA1	Q99502	p.Ser73Arg	rs1201735320	missense variant	-	NC_000008.11:g.71322254T>G	TOPMed
EYA1	Q99502	p.Ser73Asn	rs1429110987	missense variant	-	NC_000008.11:g.71322253C>T	TOPMed,gnomAD
EYA1	Q99502	p.Arg77Gln	rs770356158	missense variant	-	NC_000008.11:g.71322241C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg77Ter	rs200164773	stop gained	-	NC_000008.11:g.71322242G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg77Ter	RCV000544733	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71322242G>A	ClinVar
EYA1	Q99502	p.Pro78Arg	rs1414412230	missense variant	-	NC_000008.11:g.71322238G>C	gnomAD
EYA1	Q99502	p.Thr79Ala	RCV000522348	missense variant	-	NC_000008.11:g.71322236T>C	ClinVar
EYA1	Q99502	p.Thr79Ala	rs1554550645	missense variant	-	NC_000008.11:g.71322236T>C	-
EYA1	Q99502	p.Gln81Ter	RCV000600507	nonsense	Rare genetic deafness	NC_000008.11:g.71322230G>A	ClinVar
EYA1	Q99502	p.Gln81Ter	rs1554550637	stop gained	-	NC_000008.11:g.71322230G>A	-
EYA1	Q99502	p.Phe82Tyr	rs777629266	missense variant	-	NC_000008.11:g.71322226A>T	ExAC,gnomAD
EYA1	Q99502	p.Phe82Ser	rs777629266	missense variant	-	NC_000008.11:g.71322226A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser83Cys	rs748482012	missense variant	-	NC_000008.11:g.71322223G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser83Pro	rs1191745624	missense variant	-	NC_000008.11:g.71322224A>G	gnomAD
EYA1	Q99502	p.Ser83Phe	rs748482012	missense variant	-	NC_000008.11:g.71322223G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro85Ser	rs1237828849	missense variant	-	NC_000008.11:g.71322218G>A	TOPMed,gnomAD
EYA1	Q99502	p.Gln86Arg	rs781429176	missense variant	-	NC_000008.11:g.71322214T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile87Thr	rs755452077	missense variant	-	NC_000008.11:g.71322211A>G	ExAC,gnomAD
EYA1	Q99502	p.Tyr88His	rs534707284	missense variant	-	NC_000008.11:g.71322209A>G	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Pro89Leu	rs368351103	missense variant	-	NC_000008.11:g.71322205G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro89Ser	rs1255833754	missense variant	-	NC_000008.11:g.71322206G>A	gnomAD
EYA1	Q99502	p.Ser90Phe	rs1379371014	missense variant	-	NC_000008.11:g.71322202G>A	gnomAD
EYA1	Q99502	p.Asn91Asp	rs750621028	missense variant	-	NC_000008.11:g.71322200T>C	ExAC,gnomAD
EYA1	Q99502	p.ProTyr93ProCysTerTyr	rs1438639316	stop gained	-	NC_000008.11:g.71321873_71321874insTAACAT	gnomAD
EYA1	Q99502	p.Pro95Leu	rs759310166	missense variant	-	NC_000008.11:g.71321868G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro95Gln	rs759310166	missense variant	-	NC_000008.11:g.71321868G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro95Ser	VAR_064942	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.His96Arg	rs377434964	missense variant	-	NC_000008.11:g.71321865T>C	ESP,ExAC,gnomAD
EYA1	Q99502	p.Ile97Val	rs1422583050	missense variant	-	NC_000008.11:g.71321863T>C	TOPMed,gnomAD
EYA1	Q99502	p.Leu98Phe	rs766184209	missense variant	-	NC_000008.11:g.71321860G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro99Arg	rs763005068	missense variant	-	NC_000008.11:g.71321856G>C	ExAC,gnomAD
EYA1	Q99502	p.Pro99Leu	rs763005068	missense variant	-	NC_000008.11:g.71321856G>A	ExAC,gnomAD
EYA1	Q99502	p.Thr100Asn	RCV000156019	missense variant	-	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	RCV000371539	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	RCV000281370	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	rs373501480	missense variant	-	NC_000008.11:g.71321853G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro101Ala	rs138603867	missense variant	-	NC_000008.11:g.71321851G>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser103Ala	rs1488509440	missense variant	-	NC_000008.11:g.71321845A>C	gnomAD
EYA1	Q99502	p.Ala107Thr	rs1413761721	missense variant	-	NC_000008.11:g.71321833C>T	TOPMed,gnomAD
EYA1	Q99502	p.Tyr109Cys	rs1489979978	missense variant	-	NC_000008.11:g.71321826T>C	gnomAD
EYA1	Q99502	p.Tyr109His	rs141779040	missense variant	-	NC_000008.11:g.71321827A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr109His	RCV000729909	missense variant	-	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Tyr109His	RCV000294529	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Tyr109His	RCV000335524	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Gly110Glu	rs769041202	missense variant	-	NC_000008.11:g.71321823C>T	ExAC,gnomAD
EYA1	Q99502	p.Gln113Arg	rs184596522	missense variant	-	NC_000008.11:g.71321814T>C	1000Genomes
EYA1	Q99502	p.Gln113Lys	rs747371845	missense variant	-	NC_000008.11:g.71321815G>T	ExAC,gnomAD
EYA1	Q99502	p.Phe114Leu	rs772521196	missense variant	-	NC_000008.11:g.71321812A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Phe114Tyr	rs746388153	missense variant	-	NC_000008.11:g.71321811A>T	ExAC,gnomAD
EYA1	Q99502	p.Thr115Asn	rs1368387497	missense variant	-	NC_000008.11:g.71321808G>T	gnomAD
EYA1	Q99502	p.Thr115Ile	rs1368387497	missense variant	-	NC_000008.11:g.71321808G>A	gnomAD
EYA1	Q99502	p.Gly117Glu	rs1293217360	missense variant	-	NC_000008.11:g.71321802C>T	gnomAD
EYA1	Q99502	p.Met118Ile	rs1362617814	missense variant	-	NC_000008.11:g.71321798C>T	TOPMed,gnomAD
EYA1	Q99502	p.Met118Ile	rs1362617814	missense variant	-	NC_000008.11:g.71321798C>A	TOPMed,gnomAD
EYA1	Q99502	p.Met118Val	rs778898100	missense variant	-	NC_000008.11:g.71321800T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Met118Leu	rs778898100	missense variant	-	NC_000008.11:g.71321800T>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala121Thr	rs757399419	missense variant	-	NC_000008.11:g.71321791C>T	ExAC,gnomAD
EYA1	Q99502	p.Ala121Pro	rs757399419	missense variant	-	NC_000008.11:g.71321791C>G	ExAC,gnomAD
EYA1	Q99502	p.Ala121Asp	rs754082186	missense variant	-	NC_000008.11:g.71321790G>T	ExAC,gnomAD
EYA1	Q99502	p.Thr122Arg	rs971427687	missense variant	-	NC_000008.11:g.71321787G>C	gnomAD
EYA1	Q99502	p.Thr126Met	rs375521116	missense variant	-	NC_000008.11:g.71321775G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr126Lys	rs375521116	missense variant	-	NC_000008.11:g.71321775G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro128Leu	rs1478602440	missense variant	-	NC_000008.11:g.71321769G>A	gnomAD
EYA1	Q99502	p.Gln129His	rs1315972086	missense variant	-	NC_000008.11:g.71321765C>G	TOPMed
EYA1	Q99502	p.Gln132Ter	RCV000215585	frameshift	Rare genetic deafness	NC_000008.11:g.71321748_71321758del	ClinVar
EYA1	Q99502	p.Pro133Leu	rs138234228	missense variant	-	NC_000008.11:g.71321754G>A	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Gly135Ser	RCV000490264	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71321749C>T	ClinVar
EYA1	Q99502	p.Gly135Ser	RCV000825655	missense variant	-	NC_000008.11:g.71321749C>T	ClinVar
EYA1	Q99502	p.Gly135Asp	rs776314304	missense variant	-	NC_000008.11:g.71321748C>T	ExAC,gnomAD
EYA1	Q99502	p.Gly135Ser	rs747476629	missense variant	-	NC_000008.11:g.71321749C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser138Leu	rs1245501738	missense variant	-	NC_000008.11:g.71321739G>A	TOPMed
EYA1	Q99502	p.Tyr139His	RCV000850159	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71321737A>G	ClinVar
EYA1	Q99502	p.Tyr139His	rs763614581	missense variant	-	NC_000008.11:g.71321737A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr139Asn	rs763614581	missense variant	-	NC_000008.11:g.71321737A>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly140Ser	VAR_064943	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Leu142Phe	rs749811991	missense variant	-	NC_000008.11:g.71317682C>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Trp143Ter	RCV000155629	nonsense	Rare genetic deafness	NC_000008.11:g.71317680C>T	ClinVar
EYA1	Q99502	p.Trp143Ter	rs727504494	stop gained	-	NC_000008.11:g.71317680C>T	ExAC,gnomAD
EYA1	Q99502	p.Trp143Leu	rs727504494	missense variant	-	NC_000008.11:g.71317680C>A	ExAC,gnomAD
EYA1	Q99502	p.Trp143Arg	rs773097343	missense variant	-	NC_000008.11:g.71317681A>G	ExAC,gnomAD
EYA1	Q99502	p.Ala144Thr	rs1460464467	missense variant	-	NC_000008.11:g.71317678C>T	TOPMed
EYA1	Q99502	p.Gly145Asp	rs1182285380	missense variant	-	NC_000008.11:g.71317674C>T	gnomAD
EYA1	Q99502	p.Ile146Val	rs202188500	missense variant	-	NC_000008.11:g.71317672T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser155Ala	rs13255076	missense variant	-	NC_000008.11:g.71317645A>C	ExAC,gnomAD
EYA1	Q99502	p.Ser155Thr	rs13255076	missense variant	-	NC_000008.11:g.71317645A>T	ExAC,gnomAD
EYA1	Q99502	p.Ser157Thr	rs778872780	missense variant	-	NC_000008.11:g.71317639A>T	ExAC,gnomAD
EYA1	Q99502	p.Pro158Ser	rs142344434	missense variant	-	NC_000008.11:g.71317636G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro158Leu	rs764732053	missense variant	-	NC_000008.11:g.71317635G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro158His	rs764732053	missense variant	-	NC_000008.11:g.71317635G>T	ExAC,gnomAD
EYA1	Q99502	p.Gln160Glu	rs763509251	missense variant	-	NC_000008.11:g.71317630G>C	ExAC,gnomAD
EYA1	Q99502	p.Gly162Glu	rs1411069397	missense variant	-	NC_000008.11:g.71317623C>T	gnomAD
EYA1	Q99502	p.Leu164Pro	rs1007684729	missense variant	-	NC_000008.11:g.71317617A>G	TOPMed,gnomAD
EYA1	Q99502	p.Leu164Pro	RCV000609247	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
EYA1	Q99502	p.Leu164Pro	RCV000512945	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
EYA1	Q99502	p.Ser165Ile	rs1377460458	missense variant	-	NC_000008.11:g.71317614C>A	gnomAD
EYA1	Q99502	p.Tyr166Cys	rs138353102	missense variant	-	NC_000008.11:g.71317611T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Phe170Ser	rs147066127	missense variant	-	NC_000008.11:g.71317599A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser171Asn	rs759221073	missense variant	-	NC_000008.11:g.71317596C>T	ExAC,gnomAD
EYA1	Q99502	p.Thr172Ile	rs751860428	missense variant	-	NC_000008.11:g.71317593G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro173Leu	rs766767570	missense variant	-	NC_000008.11:g.71317590G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro175Arg	rs201908026	missense variant	-	NC_000008.11:g.71317584G>C	1000Genomes,gnomAD
EYA1	Q99502	p.Gln177His	rs1385538076	missense variant	-	NC_000008.11:g.71317577C>A	TOPMed
EYA1	Q99502	p.Ala178Ter	RCV000634147	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71317577del	ClinVar
EYA1	Q99502	p.Ala178Val	rs868367252	missense variant	-	NC_000008.11:g.71317575G>A	gnomAD
EYA1	Q99502	p.Pro179Leu	rs1262764388	missense variant	-	NC_000008.11:g.71317572G>A	TOPMed
EYA1	Q99502	p.Pro179Ser	rs368131485	missense variant	-	NC_000008.11:g.71317573G>A	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Ser181Gly	rs1022352668	missense variant	-	NC_000008.11:g.71317567T>C	TOPMed
EYA1	Q99502	p.Tyr182His	rs200063586	missense variant	-	NC_000008.11:g.71317564A>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr182Phe	rs761991031	missense variant	-	NC_000008.11:g.71317563T>A	ExAC,gnomAD
EYA1	Q99502	p.Gln183Ter	rs1289325016	stop gained	-	NC_000008.11:g.71317561G>A	gnomAD
EYA1	Q99502	p.Gln183Arg	RCV000179762	missense variant	-	NC_000008.11:g.71317560T>C	ClinVar
EYA1	Q99502	p.Gln183Arg	rs794727845	missense variant	-	NC_000008.11:g.71317560T>C	gnomAD
EYA1	Q99502	p.Met184Thr	rs1241997853	missense variant	-	NC_000008.11:g.71317557A>G	gnomAD
EYA1	Q99502	p.Thr191Pro	rs1418597577	missense variant	-	NC_000008.11:g.71299706T>G	TOPMed
EYA1	Q99502	p.Ser193Leu	rs377222777	missense variant	-	NC_000008.11:g.71299699G>A	ESP,TOPMed
EYA1	Q99502	p.Ile195Met	rs780672889	missense variant	-	NC_000008.11:g.71299692T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr197Ile	rs1173256027	missense variant	-	NC_000008.11:g.71299687G>A	gnomAD
EYA1	Q99502	p.Asn200Lys	rs1320967168	missense variant	-	NC_000008.11:g.71299677A>T	gnomAD
EYA1	Q99502	p.Ser201Ter	RCV000733277	nonsense	-	NC_000008.11:g.71299675G>C	ClinVar
EYA1	Q99502	p.Ser201Ala	rs751187579	missense variant	-	NC_000008.11:g.71299676A>C	ExAC,gnomAD
EYA1	Q99502	p.Leu202Ter	RCV000627570	frameshift	-	NC_000008.11:g.71299672del	ClinVar
EYA1	Q99502	p.Leu202Phe	rs1196110281	missense variant	-	NC_000008.11:g.71299673G>A	gnomAD
EYA1	Q99502	p.Thr203Ile	rs1057241340	missense variant	-	NC_000008.11:g.71299669G>A	gnomAD
EYA1	Q99502	p.Thr203Ala	rs758016427	missense variant	-	NC_000008.11:g.71299670T>C	ExAC,gnomAD
EYA1	Q99502	p.Ser206Phe	rs1444096031	missense variant	-	NC_000008.11:g.71299660G>A	TOPMed,gnomAD
EYA1	Q99502	p.Ser210Ile	rs1202544664	missense variant	-	NC_000008.11:g.71299648C>A	gnomAD
EYA1	Q99502	p.Ser211Leu	rs757772659	missense variant	-	NC_000008.11:g.71299645G>A	ExAC,gnomAD
EYA1	Q99502	p.Asp214Asn	RCV000681904	missense variant	-	NC_000008.11:g.71299233C>T	ClinVar
EYA1	Q99502	p.Pro216Arg	rs200923204	missense variant	-	NC_000008.11:g.71299226G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro216Leu	rs200923204	missense variant	-	NC_000008.11:g.71299226G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser217Phe	rs1162614873	missense variant	-	NC_000008.11:g.71299223G>A	gnomAD
EYA1	Q99502	p.Pro219Leu	rs756722124	missense variant	-	NC_000008.11:g.71299217G>A	ExAC,gnomAD
EYA1	Q99502	p.Gln223Arg	rs1382039361	missense variant	-	NC_000008.11:g.71299205T>C	gnomAD
EYA1	Q99502	p.Gly224Asp	rs201509408	missense variant	-	NC_000008.11:g.71299202C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly224Val	rs201509408	missense variant	-	NC_000008.11:g.71299202C>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly224Val	RCV000490441	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299202C>A	ClinVar
EYA1	Q99502	p.Ala227Thr	rs202168841	missense variant	-	NC_000008.11:g.71299194C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala227Pro	rs202168841	missense variant	-	NC_000008.11:g.71299194C>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gln228Ter	RCV000687593	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299191G>A	ClinVar
EYA1	Q99502	p.Tyr230Cys	rs1213738374	missense variant	-	NC_000008.11:g.71299184T>C	TOPMed
EYA1	Q99502	p.Ser233Leu	rs1485766576	missense variant	-	NC_000008.11:g.71299175G>A	TOPMed
EYA1	Q99502	p.Pro234Leu	rs761632944	missense variant	-	NC_000008.11:g.71299172G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr235Phe	rs969843445	missense variant	-	NC_000008.11:g.71299169T>A	TOPMed
EYA1	Q99502	p.His238Arg	rs1344244290	missense variant	-	NC_000008.11:g.71299160T>C	gnomAD
EYA1	Q99502	p.Tyr239Phe	rs746932579	missense variant	-	NC_000008.11:g.71299157T>A	ExAC,gnomAD
EYA1	Q99502	p.Tyr239Cys	rs746932579	missense variant	-	NC_000008.11:g.71299157T>C	ExAC,gnomAD
EYA1	Q99502	p.Met240Val	rs771549701	missense variant	-	NC_000008.11:g.71299155T>C	ExAC,gnomAD
EYA1	Q99502	p.Ser242Gly	rs191838840	missense variant	-	NC_000008.11:g.71299149T>C	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser243Ile	rs374722758	missense variant	-	NC_000008.11:g.71299145C>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Asn244Asp	rs1278065086	missense variant	-	NC_000008.11:g.71299143T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser246Thr	rs1302329264	missense variant	-	NC_000008.11:g.71299136C>G	gnomAD
EYA1	Q99502	p.Thr248Met	RCV000264927	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71299130G>A	ClinVar
EYA1	Q99502	p.Thr248Ala	rs1296125164	missense variant	-	NC_000008.11:g.71299131T>C	TOPMed,gnomAD
EYA1	Q99502	p.Thr248Met	rs186736708	missense variant	-	NC_000008.11:g.71299130G>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr248Met	RCV000359341	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71299130G>A	ClinVar
EYA1	Q99502	p.Thr252Pro	rs1418060801	missense variant	-	NC_000008.11:g.71299119T>G	gnomAD
EYA1	Q99502	p.Thr252Ile	rs376238434	missense variant	-	NC_000008.11:g.71299118G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn253Ile	rs960785529	missense variant	-	NC_000008.11:g.71299115T>A	TOPMed,gnomAD
EYA1	Q99502	p.Asn253Ser	rs960785529	missense variant	-	NC_000008.11:g.71299115T>C	TOPMed,gnomAD
EYA1	Q99502	p.Asn253Ser	RCV000520903	missense variant	-	NC_000008.11:g.71299115T>C	ClinVar
EYA1	Q99502	p.Ala254Asp	rs1281786069	missense variant	-	NC_000008.11:g.71299112G>T	TOPMed
EYA1	Q99502	p.Gln257His	rs149833469	missense variant	-	NC_000008.11:g.71299102C>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu260Val	rs751772774	missense variant	-	NC_000008.11:g.71299094T>A	ExAC,gnomAD
EYA1	Q99502	p.Pro261Leu	RCV000607831	missense variant	-	NC_000008.11:g.71299091G>A	ClinVar
EYA1	Q99502	p.Pro261Thr	rs766545848	missense variant	-	NC_000008.11:g.71299092G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro261Gln	rs77825059	missense variant	-	NC_000008.11:g.71299091G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro261Leu	rs77825059	missense variant	-	NC_000008.11:g.71299091G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly264Val	rs775347972	missense variant	-	NC_000008.11:g.71299082C>A	ExAC,gnomAD
EYA1	Q99502	p.Ser267Arg	rs1346438963	missense variant	-	NC_000008.11:g.71299072G>C	gnomAD
EYA1	Q99502	p.Ser267Gly	rs771589229	missense variant	-	NC_000008.11:g.71299074T>C	ExAC,gnomAD
EYA1	Q99502	p.Ala269Glu	rs368165352	missense variant	-	NC_000008.11:g.71299067G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val270Ala	rs1342127067	missense variant	-	NC_000008.11:g.71299064A>G	TOPMed,gnomAD
EYA1	Q99502	p.Thr271Ile	rs774032992	missense variant	-	NC_000008.11:g.71299061G>A	ExAC,gnomAD
EYA1	Q99502	p.Asp272Gly	rs748966524	missense variant	-	NC_000008.11:g.71299058T>C	ExAC,gnomAD
EYA1	Q99502	p.Asp272Tyr	rs1343323235	missense variant	-	NC_000008.11:g.71299059C>A	gnomAD
EYA1	Q99502	p.Asp272Glu	rs1441640157	missense variant	-	NC_000008.11:g.71299057A>C	TOPMed
EYA1	Q99502	p.Pro273Ser	rs778220979	missense variant	-	NC_000008.11:g.71299056G>A	ExAC
EYA1	Q99502	p.Thr274Lys	rs900664550	missense variant	-	NC_000008.11:g.71299052G>T	TOPMed
EYA1	Q99502	p.Tyr277Cys	rs374772533	missense variant	-	NC_000008.11:g.71271894T>C	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Ser278Arg	rs1185950054	missense variant	-	NC_000008.11:g.71271890G>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser282Ile	rs1468448384	missense variant	-	NC_000008.11:g.71271879C>A	TOPMed
EYA1	Q99502	p.Pro283Leu	rs979855303	missense variant	-	NC_000008.11:g.71271876G>A	TOPMed,gnomAD
EYA1	Q99502	p.Thr285Ala	rs781635264	missense variant	-	NC_000008.11:g.71271871T>C	ExAC,gnomAD
EYA1	Q99502	p.Thr285Ser	rs781635264	missense variant	-	NC_000008.11:g.71271871T>A	ExAC,gnomAD
EYA1	Q99502	p.Pro286Leu	rs374615482	missense variant	-	NC_000008.11:g.71271867G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro286Ser	rs1252089449	missense variant	-	NC_000008.11:g.71271868G>A	gnomAD
EYA1	Q99502	p.Ile287Phe	rs747518329	missense variant	-	NC_000008.11:g.71271865T>A	ExAC
EYA1	Q99502	p.Ile287Thr	rs1305551163	missense variant	-	NC_000008.11:g.71271864A>G	gnomAD
EYA1	Q99502	p.Lys288Thr	rs1314840587	missense variant	-	NC_000008.11:g.71271861T>G	gnomAD
EYA1	Q99502	p.Lys288Asn	rs1246643625	missense variant	-	NC_000008.11:g.71271860T>G	gnomAD
EYA1	Q99502	p.Asp289Val	rs1029683507	missense variant	-	NC_000008.11:g.71271858T>A	TOPMed
EYA1	Q99502	p.Asp289Tyr	rs201504674	missense variant	-	NC_000008.11:g.71271859C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp289Tyr	RCV000595354	missense variant	-	NC_000008.11:g.71271859C>A	ClinVar
EYA1	Q99502	p.Asp291Asn	rs779045401	missense variant	-	NC_000008.11:g.71271853C>T	ExAC,gnomAD
EYA1	Q99502	p.Asp291His	rs779045401	missense variant	-	NC_000008.11:g.71271853C>G	ExAC,gnomAD
EYA1	Q99502	p.Asp291Gly	rs1405459798	missense variant	-	NC_000008.11:g.71271852T>C	TOPMed
EYA1	Q99502	p.Asp293Val	rs1410593568	missense variant	-	NC_000008.11:g.71271846T>A	TOPMed
EYA1	Q99502	p.Arg294Gln	rs757532396	missense variant	-	NC_000008.11:g.71271843C>T	ExAC,gnomAD
EYA1	Q99502	p.Leu295Ser	rs146687496	missense variant	-	NC_000008.11:g.71271840A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg296Cys	rs142104253	missense variant	-	NC_000008.11:g.71271838G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg296His	rs181191349	missense variant	-	NC_000008.11:g.71271837C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg297Gln	rs148647933	missense variant	-	NC_000008.11:g.71271834C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg297Ter	rs1131691667	stop gained	-	NC_000008.11:g.71271835G>A	-
EYA1	Q99502	p.Arg297Gln	RCV000380843	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271834C>T	ClinVar
EYA1	Q99502	p.Arg297Gln	RCV000326184	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271834C>T	ClinVar
EYA1	Q99502	p.Arg297Ter	RCV000695248	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271835G>A	ClinVar
EYA1	Q99502	p.Arg297Ter	RCV000492842	nonsense	-	NC_000008.11:g.71271835G>A	ClinVar
EYA1	Q99502	p.Gly298Asp	rs1385104528	missense variant	-	NC_000008.11:g.71271831C>T	TOPMed,gnomAD
EYA1	Q99502	p.Gly298Ser	rs765961794	missense variant	-	NC_000008.11:g.71271832C>T	ExAC,gnomAD
EYA1	Q99502	p.Ser299Ter	RCV000219278	nonsense	Rare genetic deafness	NC_000008.11:g.71271828G>T	ClinVar
EYA1	Q99502	p.Ser299Ter	rs876657691	stop gained	-	NC_000008.11:g.71271828G>T	-
EYA1	Q99502	p.Lys302Gln	rs887536064	missense variant	-	NC_000008.11:g.71271820T>G	TOPMed
EYA1	Q99502	p.Lys302Arg	rs1305721914	missense variant	-	NC_000008.11:g.71271819T>C	gnomAD
EYA1	Q99502	p.Arg304His	rs1036380891	missense variant	-	NC_000008.11:g.71271813C>T	gnomAD
EYA1	Q99502	p.Arg304Cys	rs772877702	missense variant	-	NC_000008.11:g.71271814G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg306Trp	rs761539105	missense variant	-	NC_000008.11:g.71271808G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg306Gln	rs373250373	missense variant	-	NC_000008.11:g.71271807C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly307Val	rs1435743529	missense variant	-	NC_000008.11:g.71271804C>A	TOPMed
EYA1	Q99502	p.Gly307Asp	rs1435743529	missense variant	-	NC_000008.11:g.71271804C>T	TOPMed
EYA1	Q99502	p.Arg308Gln	RCV000266374	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271801C>T	ClinVar
EYA1	Q99502	p.Arg308Gln	RCV000379541	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271801C>T	ClinVar
EYA1	Q99502	p.Arg308Ter	RCV000844696	nonsense	Rare genetic deafness	NC_000008.11:g.71271802G>A	ClinVar
EYA1	Q99502	p.Arg308Gly	rs121909195	missense variant	-	NC_000008.11:g.71271802G>C	ExAC,gnomAD
EYA1	Q99502	p.Arg308Gln	rs369822742	missense variant	-	NC_000008.11:g.71271801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg308Ter	rs121909195	stop gained	-	NC_000008.11:g.71271802G>A	ExAC,gnomAD
EYA1	Q99502	p.Arg308Ter	RCV000008391	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271802G>A	ClinVar
EYA1	Q99502	p.Asn310Asp	rs1299287501	missense variant	-	NC_000008.11:g.71271796T>C	TOPMed,gnomAD
EYA1	Q99502	p.Asn310Lys	rs745910111	missense variant	-	NC_000008.11:g.71271794G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro313Leu	rs868681957	missense variant	-	NC_000008.11:g.71271786G>A	-
EYA1	Q99502	p.Pro316Ser	rs1389336466	missense variant	-	NC_000008.11:g.71271778G>A	gnomAD
EYA1	Q99502	p.Glu322Gln	rs754882532	missense variant	-	NC_000008.11:g.71271760C>G	ExAC,gnomAD
EYA1	Q99502	p.Val324Ala	rs1431798771	missense variant	-	NC_000008.11:g.71269819A>G	gnomAD
EYA1	Q99502	p.Phe325Leu	rs1345089916	missense variant	-	NC_000008.11:g.71269815G>T	TOPMed
EYA1	Q99502	p.Asp328Asn	rs1177416665	missense variant	-	NC_000008.11:g.71269808C>T	gnomAD
EYA1	Q99502	p.Ile333Val	rs1480195366	missense variant	-	NC_000008.11:g.71269793T>C	gnomAD
EYA1	Q99502	p.Ile334Val	rs1220662407	missense variant	-	NC_000008.11:g.71269790T>C	TOPMed
EYA1	Q99502	p.Ser338Ter	RCV000634144	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269775_71269778del	ClinVar
EYA1	Q99502	p.Thr341Ile	rs1266528712	missense variant	-	NC_000008.11:g.71269768G>A	gnomAD
EYA1	Q99502	p.Ala345Thr	rs770168786	missense variant	-	NC_000008.11:g.71269757C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg347Thr	rs1202903388	missense variant	-	NC_000008.11:g.71269750C>G	gnomAD
EYA1	Q99502	p.Tyr348Ter	RCV000625536	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269746A>C	ClinVar
EYA1	Q99502	p.Tyr348Ter	rs1554615511	stop gained	-	NC_000008.11:g.71269746A>C	-
EYA1	Q99502	p.Arg361Ter	RCV000008406	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71244662G>A	ClinVar
EYA1	Q99502	p.Arg361Gln	rs145219836	missense variant	-	NC_000008.11:g.71244661C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg361Ter	rs121909202	stop gained	-	NC_000008.11:g.71244662G>A	gnomAD
EYA1	Q99502	p.Arg361Ter	RCV000008405	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71244662G>A	ClinVar
EYA1	Q99502	p.Met362Ile	rs907099635	missense variant	-	NC_000008.11:g.71244657C>T	TOPMed
EYA1	Q99502	p.Glu363Lys	RCV000008399	missense variant	Anterior segment anomalies	NC_000008.11:g.71244656C>T	ClinVar
EYA1	Q99502	p.Glu363Lys	rs121909198	missense variant	-	NC_000008.11:g.71244656C>T	-
EYA1	Q99502	p.Glu363Lys	rs121909198	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt,dbSNP
EYA1	Q99502	p.Glu363Lys	VAR_016864	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt
EYA1	Q99502	p.Glu363Val	VAR_064944	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Glu364Ter	RCV000221224	nonsense	Rare genetic deafness	NC_000008.11:g.71244653C>A	ClinVar
EYA1	Q99502	p.Glu364Asp	rs778958308	missense variant	-	NC_000008.11:g.71244651T>G	ExAC,gnomAD
EYA1	Q99502	p.Glu364Ter	rs876657689	stop gained	-	NC_000008.11:g.71244653C>A	-
EYA1	Q99502	p.Met365Thr	rs1484562404	missense variant	-	NC_000008.11:g.71244649A>G	TOPMed
EYA1	Q99502	p.Asn368Ser	rs757164392	missense variant	-	NC_000008.11:g.71244640T>C	ExAC,gnomAD
EYA1	Q99502	p.Asn368Asp	rs1410388380	missense variant	-	NC_000008.11:g.71244641T>C	gnomAD
EYA1	Q99502	p.Leu369Phe	RCV000149002	missense variant	Malignant tumor of prostate	NC_000008.11:g.71244636C>A	ClinVar
EYA1	Q99502	p.Leu369Phe	rs193920835	missense variant	-	NC_000008.11:g.71244636C>A	ExAC,gnomAD
EYA1	Q99502	p.Thr372Ile	rs777268280	missense variant	-	NC_000008.11:g.71244628G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His373Ter	RCV000255636	frameshift	-	NC_000008.11:g.71244626_71244627GT[2]	ClinVar
EYA1	Q99502	p.His373Tyr	rs371974738	missense variant	-	NC_000008.11:g.71244626G>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Leu374Ter	RCV000041385	frameshift	Rare genetic deafness	NC_000008.11:g.71244621del	ClinVar
EYA1	Q99502	p.Asp378Tyr	rs1421127358	missense variant	-	NC_000008.11:g.71244611C>A	TOPMed
EYA1	Q99502	p.Glu381Gln	rs751887655	missense variant	-	NC_000008.11:g.71217023C>G	ExAC,gnomAD
EYA1	Q99502	p.Cys382Arg	rs766669312	missense variant	-	NC_000008.11:g.71217020A>G	ExAC,gnomAD
EYA1	Q99502	p.Cys382Tyr	rs1385811609	missense variant	-	NC_000008.11:g.71217019C>T	TOPMed,gnomAD
EYA1	Q99502	p.Asp383Glu	rs1338058043	missense variant	-	NC_000008.11:g.71217015G>T	gnomAD
EYA1	Q99502	p.Val385Leu	rs1470014710	missense variant	-	NC_000008.11:g.71217011C>G	gnomAD
EYA1	Q99502	p.His386Tyr	rs751039720	missense variant	-	NC_000008.11:g.71217008G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val390Ala	rs762034700	missense variant	-	NC_000008.11:g.71216995A>G	ExAC,gnomAD
EYA1	Q99502	p.Val390Gly	rs762034700	missense variant	-	NC_000008.11:g.71216995A>C	ExAC,gnomAD
EYA1	Q99502	p.Asn395Lys	rs372488542	missense variant	-	NC_000008.11:g.71216979G>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly396Arg	RCV000150674	missense variant	-	NC_000008.11:g.71216978C>T	ClinVar
EYA1	Q99502	p.Gly396Arg	rs727503047	missense variant	-	NC_000008.11:g.71216978C>T	gnomAD
EYA1	Q99502	p.Gln397Arg	rs760811461	missense variant	-	NC_000008.11:g.71216974T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr406Arg	rs376251253	missense variant	-	NC_000008.11:g.71216835G>C	ESP
EYA1	Q99502	p.Ala411Pro	rs1392799354	missense variant	-	NC_000008.11:g.71216821C>G	TOPMed,gnomAD
EYA1	Q99502	p.Ala412Gly	rs1388902851	missense variant	-	NC_000008.11:g.71216817G>C	TOPMed
EYA1	Q99502	p.Ala413Val	rs1325043214	missense variant	-	NC_000008.11:g.71216814G>A	TOPMed
EYA1	Q99502	p.Ser415Arg	rs769657024	missense variant	-	NC_000008.11:g.71216807A>C	ExAC,gnomAD
EYA1	Q99502	p.Cys419Arg	rs761755658	missense variant	-	NC_000008.11:g.71216797A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu420Phe	rs768120097	missense variant	-	NC_000008.11:g.71216792C>G	ExAC,gnomAD
EYA1	Q99502	p.Leu420Phe	rs768120097	missense variant	-	NC_000008.11:g.71216792C>A	ExAC,gnomAD
EYA1	Q99502	p.Thr422Ser	rs779623204	missense variant	-	NC_000008.11:g.71216788T>A	ExAC,gnomAD
EYA1	Q99502	p.Thr422Pro	rs779623204	missense variant	-	NC_000008.11:g.71216788T>G	ExAC,gnomAD
EYA1	Q99502	p.Gly423Ala	rs771779342	missense variant	-	NC_000008.11:g.71216784C>G	ExAC,gnomAD
EYA1	Q99502	p.Gly423Val	rs771779342	missense variant	-	NC_000008.11:g.71216784C>A	ExAC,gnomAD
EYA1	Q99502	p.Val424Ile	rs746195192	missense variant	-	NC_000008.11:g.71216782C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg425Trp	rs779423947	missense variant	-	NC_000008.11:g.71216779G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg425Gln	rs757780695	missense variant	-	NC_000008.11:g.71216778C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg425Gly	rs779423947	missense variant	-	NC_000008.11:g.71216779G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly426Ala	rs1181243766	missense variant	-	NC_000008.11:g.71216775C>G	gnomAD
EYA1	Q99502	p.Gly426Ser	rs121909199	missense variant	-	NC_000008.11:g.71216776C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly426Ser	rs121909199	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt,dbSNP
EYA1	Q99502	p.Gly426Ser	VAR_016865	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt
EYA1	Q99502	p.Gly426Ser	RCV000309264	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71216776C>T	ClinVar
EYA1	Q99502	p.Gly426Ser	RCV000367199	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71216776C>T	ClinVar
EYA1	Q99502	p.Gly427Ser	rs756186032	missense variant	-	NC_000008.11:g.71216773C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly427Asp	rs752939522	missense variant	-	NC_000008.11:g.71216772C>T	ExAC,gnomAD
EYA1	Q99502	p.Val428Met	rs1488650592	missense variant	-	NC_000008.11:g.71216770C>T	TOPMed
EYA1	Q99502	p.Asp429Gly	VAR_016866	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Met431Thr	rs1211420496	missense variant	-	NC_000008.11:g.71216760A>G	TOPMed
EYA1	Q99502	p.Arg432Gly	rs1267032760	missense variant	-	NC_000008.11:g.71216758T>C	TOPMed
EYA1	Q99502	p.Arg432Lys	rs727503046	missense variant	-	NC_000008.11:g.71216757C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg432Lys	RCV000150672	missense variant	-	NC_000008.11:g.71216757C>T	ClinVar
EYA1	Q99502	p.Lys433Arg	rs759781016	missense variant	-	NC_000008.11:g.71216754T>C	ExAC,gnomAD
EYA1	Q99502	p.Ala435Thr	rs138550731	missense variant	-	NC_000008.11:g.71216749C>T	1000Genomes
EYA1	Q99502	p.Arg437Cys	rs1240529273	missense variant	-	NC_000008.11:g.71216743G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg437His	rs750164019	missense variant	-	NC_000008.11:g.71216742C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg437Ser	rs1240529273	missense variant	-	NC_000008.11:g.71216743G>T	TOPMed,gnomAD
EYA1	Q99502	p.Tyr438Cys	rs1374801818	missense variant	-	NC_000008.11:g.71216739T>C	TOPMed,gnomAD
EYA1	Q99502	p.Tyr438Phe	rs1374801818	missense variant	-	NC_000008.11:g.71216739T>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg440Trp	RCV000219608	missense variant	-	NC_000008.11:g.71216734G>A	ClinVar
EYA1	Q99502	p.Arg440Gln	rs121909196	missense variant	-	NC_000008.11:g.71216733C>T	-
EYA1	Q99502	p.Arg440Gln	rs121909196	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt,dbSNP
EYA1	Q99502	p.Arg440Gln	VAR_016867	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt
EYA1	Q99502	p.Arg440Gln	RCV000008397	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216733C>T	ClinVar
EYA1	Q99502	p.Arg440Gln	RCV000844628	missense variant	Rare genetic deafness	NC_000008.11:g.71216733C>T	ClinVar
EYA1	Q99502	p.Arg440Trp	rs376931849	missense variant	-	NC_000008.11:g.71216734G>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Glu443Ter	RCV000634146	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216723_71216724CT[1]	ClinVar
EYA1	Q99502	p.Ile444Phe	rs533769812	missense variant	-	NC_000008.11:g.71216722T>A	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Tyr445Cys	rs1406115296	missense variant	-	NC_000008.11:g.71216718T>C	gnomAD
EYA1	Q99502	p.Thr447Ile	rs771783731	missense variant	-	NC_000008.11:g.71216712G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr447Ala	rs775097398	missense variant	-	NC_000008.11:g.71216713T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr448Cys	rs779406323	missense variant	-	NC_000008.11:g.71216709T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr448His	rs373851946	missense variant	-	NC_000008.11:g.71216710A>G	ESP
EYA1	Q99502	p.Asn451Ser	rs1471693639	missense variant	-	NC_000008.11:g.71216700T>C	gnomAD
EYA1	Q99502	p.Pro458Ala	rs771397353	missense variant	-	NC_000008.11:g.71215717G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala459Gly	rs1428992631	missense variant	-	NC_000008.11:g.71215713G>C	TOPMed,gnomAD
EYA1	Q99502	p.Glu462Lys	rs770129052	missense variant	-	NC_000008.11:g.71215705C>T	ExAC,gnomAD
EYA1	Q99502	p.Glu462Asp	rs997974243	missense variant	-	NC_000008.11:g.71215703T>A	TOPMed
EYA1	Q99502	p.Ala463Thr	rs1263352919	missense variant	-	NC_000008.11:g.71215702C>T	TOPMed,gnomAD
EYA1	Q99502	p.Ala463Val	rs1201441499	missense variant	-	NC_000008.11:g.71215701G>A	gnomAD
EYA1	Q99502	p.Leu467Phe	rs781247880	missense variant	-	NC_000008.11:g.71215688C>G	ExAC,gnomAD
EYA1	Q99502	p.Arg468Gly	RCV000150670	missense variant	-	NC_000008.11:g.71215687T>C	ClinVar
EYA1	Q99502	p.Arg468Lys	rs755093166	missense variant	-	NC_000008.11:g.71215686C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg468Gly	rs727503044	missense variant	-	NC_000008.11:g.71215687T>C	-
EYA1	Q99502	p.Ala469Thr	rs1366511376	missense variant	-	NC_000008.11:g.71215684C>T	gnomAD
EYA1	Q99502	p.Glu470Lys	rs780203392	missense variant	-	NC_000008.11:g.71215681C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile471Phe	rs1326367793	missense variant	-	NC_000008.11:g.71215678T>A	TOPMed
EYA1	Q99502	p.Thr475Asn	rs1337631504	missense variant	-	NC_000008.11:g.71215665G>T	gnomAD
EYA1	Q99502	p.Asp476Asn	RCV000221919	missense variant	-	NC_000008.11:g.71215663C>T	ClinVar
EYA1	Q99502	p.Asp476Asn	rs371408686	missense variant	-	NC_000008.11:g.71215663C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser477Cys	rs755991512	missense variant	-	NC_000008.11:g.71215659G>C	ExAC,gnomAD
EYA1	Q99502	p.Trp478Leu	rs1475718221	missense variant	-	NC_000008.11:g.71215656C>A	gnomAD
EYA1	Q99502	p.Leu479Val	rs752745332	missense variant	-	NC_000008.11:g.71215654A>C	ExAC
EYA1	Q99502	p.Leu479Phe	rs1320843367	missense variant	-	NC_000008.11:g.71215652C>G	TOPMed
EYA1	Q99502	p.Leu481Val	rs767104377	missense variant	-	NC_000008.11:g.71215648G>C	ExAC,gnomAD
EYA1	Q99502	p.Ala485Val	rs778970223	missense variant	-	NC_000008.11:g.71215635G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser487Leu	RCV000289230	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71215629G>A	ClinVar
EYA1	Q99502	p.Ser487Pro	RCV000008402	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215630A>G	ClinVar
EYA1	Q99502	p.Ser487Leu	rs139717960	missense variant	-	NC_000008.11:g.71215629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser487Pro	rs121909200	missense variant	-	NC_000008.11:g.71215630A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser487Pro	rs121909200	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt,dbSNP
EYA1	Q99502	p.Ser487Pro	VAR_005203	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt
EYA1	Q99502	p.Ser487Leu	RCV000401819	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71215629G>A	ClinVar
EYA1	Q99502	p.His490Tyr	rs748575456	missense variant	-	NC_000008.11:g.71215621G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His490Asn	rs748575456	missense variant	-	NC_000008.11:g.71215621G>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser491Cys	rs769175446	missense variant	-	NC_000008.11:g.71215617G>C	ExAC,gnomAD
EYA1	Q99502	p.Arg492Trp	rs1226367549	missense variant	-	NC_000008.11:g.71215615G>A	gnomAD
EYA1	Q99502	p.Cys495Ser	RCV000681783	missense variant	-	NC_000008.11:g.71215501A>T	ClinVar
EYA1	Q99502	p.Asn497Asp	rs779243288	missense variant	-	NC_000008.11:g.71215495T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile498Val	rs374397914	missense variant	-	NC_000008.11:g.71215492T>C	ESP,ExAC,gnomAD
EYA1	Q99502	p.Leu499Ser	rs963923024	missense variant	-	NC_000008.11:g.71215488A>G	TOPMed
EYA1	Q99502	p.Thr501Ter	RCV000008407	frameshift	Branchiootic syndrome (BOS1)	NC_000008.11:g.71215479_71215485del	ClinVar
EYA1	Q99502	p.Leu505Arg	RCV000008403	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215470A>C	ClinVar
EYA1	Q99502	p.Leu505Arg	rs121909201	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt,dbSNP
EYA1	Q99502	p.Leu505Arg	VAR_005204	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt
EYA1	Q99502	p.Leu505Arg	rs121909201	missense variant	-	NC_000008.11:g.71215470A>C	-
EYA1	Q99502	p.Ala508Val	rs754901033	missense variant	-	NC_000008.11:g.71215461G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala510Thr	rs1180421427	missense variant	-	NC_000008.11:g.71215456C>T	TOPMed,gnomAD
EYA1	Q99502	p.Lys511Ter	rs1057520766	stop gained	-	NC_000008.11:g.71215453T>A	TOPMed
EYA1	Q99502	p.Lys511Glu	rs1057520766	missense variant	-	NC_000008.11:g.71215453T>C	TOPMed
EYA1	Q99502	p.Lys511Ter	RCV000420560	nonsense	-	NC_000008.11:g.71215453T>A	ClinVar
EYA1	Q99502	p.Phe521Leu	rs757978078	missense variant	-	NC_000008.11:g.71215423A>G	ExAC,gnomAD
EYA1	Q99502	p.Pro522Ser	rs1216806432	missense variant	-	NC_000008.11:g.71215420G>A	TOPMed,gnomAD
EYA1	Q99502	p.Ile523Thr	rs749926851	missense variant	-	NC_000008.11:g.71215416A>G	ExAC,gnomAD
EYA1	Q99502	p.Ile523Val	rs1286346149	missense variant	-	NC_000008.11:g.71215417T>C	gnomAD
EYA1	Q99502	p.Ile526Val	rs764905187	missense variant	-	NC_000008.11:g.71215408T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr527Asn	rs397517918	missense variant	-	NC_000008.11:g.71215405A>T	-
EYA1	Q99502	p.Tyr527Asn	RCV000041389	missense variant	Rare genetic deafness	NC_000008.11:g.71215405A>T	ClinVar
EYA1	Q99502	p.Tyr527Cys	VAR_064946	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Gly533Arg	RCV000681852	missense variant	-	NC_000008.11:g.71215387C>G	ClinVar
EYA1	Q99502	p.Glu535Lys	rs756891032	missense variant	-	NC_000008.11:g.71211251C>T	ExAC,gnomAD
EYA1	Q99502	p.Cys537Ser	rs1271698025	missense variant	-	NC_000008.11:g.71211244C>G	TOPMed
EYA1	Q99502	p.Cys537Arg	RCV000634145	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211245A>G	ClinVar
EYA1	Q99502	p.Cys537Arg	rs1554594182	missense variant	-	NC_000008.11:g.71211245A>G	-
EYA1	Q99502	p.Glu539Ter	RCV000477858	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71211239C>A	ClinVar
EYA1	Q99502	p.Glu539Ter	rs1060499603	stop gained	-	NC_000008.11:g.71211239C>A	-
EYA1	Q99502	p.Arg540Ser	rs979889982	missense variant	-	NC_000008.11:g.71211234T>A	TOPMed,gnomAD
EYA1	Q99502	p.Ile541Leu	rs753553594	missense variant	-	NC_000008.11:g.71211233T>G	ExAC,gnomAD
EYA1	Q99502	p.Ile541Val	rs753553594	missense variant	-	NC_000008.11:g.71211233T>C	ExAC,gnomAD
EYA1	Q99502	p.Ile542Asn	rs1410459961	missense variant	-	NC_000008.11:g.71211229A>T	gnomAD
EYA1	Q99502	p.Ile542Met	rs764411004	missense variant	-	NC_000008.11:g.71211228A>C	ExAC
EYA1	Q99502	p.Arg544Lys	rs756517701	missense variant	-	NC_000008.11:g.71211223C>T	ExAC,gnomAD
EYA1	Q99502	p.Phe545Ser	rs1392532916	missense variant	-	NC_000008.11:g.71211220A>G	gnomAD
EYA1	Q99502	p.Arg547Gly	rs121909197	missense variant	-	NC_000008.11:g.71211215T>C	-
EYA1	Q99502	p.Arg547Gly	rs121909197	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt,dbSNP
EYA1	Q99502	p.Arg547Gly	VAR_016868	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt
EYA1	Q99502	p.Arg547Gly	RCV000008398	missense variant	Anterior segment anomalies and cataract	NC_000008.11:g.71211215T>C	ClinVar
EYA1	Q99502	p.Val549Ala	rs753024835	missense variant	-	NC_000008.11:g.71211208A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile554Thr	rs1475511000	missense variant	-	NC_000008.11:g.71211193A>G	TOPMed
EYA1	Q99502	p.Ile554Leu	rs1422893057	missense variant	-	NC_000008.11:g.71211194T>A	TOPMed
EYA1	Q99502	p.Gly557Ala	rs766423472	missense variant	-	NC_000008.11:g.71211184C>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val558Ala	rs376013085	missense variant	-	NC_000008.11:g.71211181A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu561Gln	rs1457532578	missense variant	-	NC_000008.11:g.71211173C>G	TOPMed
EYA1	Q99502	p.Gln562Ter	RCV000536666	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211170G>A	ClinVar
EYA1	Q99502	p.Gln562Glu	rs1481254965	missense variant	-	NC_000008.11:g.71211170G>C	TOPMed,gnomAD
EYA1	Q99502	p.Gln562Ter	rs1481254965	stop gained	-	NC_000008.11:g.71211170G>A	TOPMed,gnomAD
EYA1	Q99502	p.Gln562Arg	rs916761910	missense variant	-	NC_000008.11:g.71211169T>C	TOPMed
EYA1	Q99502	p.Gly563Arg	rs1429589719	missense variant	-	NC_000008.11:g.71211167C>T	gnomAD
EYA1	Q99502	p.Gly563Glu	rs1180940999	missense variant	-	NC_000008.11:g.71211166C>T	gnomAD
EYA1	Q99502	p.Ala564Gly	rs549524090	missense variant	-	NC_000008.11:g.71211163G>C	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala564Thr	rs1471350873	missense variant	-	NC_000008.11:g.71211164C>T	gnomAD
EYA1	Q99502	p.Ala564Glu	rs549524090	missense variant	-	NC_000008.11:g.71211163G>T	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Lys565Glu	rs1309239827	missense variant	-	NC_000008.11:g.71211161T>C	gnomAD
EYA1	Q99502	p.Lys565Ile	rs1318210474	missense variant	-	NC_000008.11:g.71211160T>A	TOPMed
EYA1	Q99502	p.Lys565Ter	RCV000008396	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211156_71211159del	ClinVar
EYA1	Q99502	p.Lys566Thr	rs143798228	missense variant	-	NC_000008.11:g.71211157T>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Lys566Arg	rs143798228	missense variant	-	NC_000008.11:g.71211157T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Lys566Ter	RCV000041390	frameshift	Rare genetic deafness	NC_000008.11:g.71211156_71211157insA	ClinVar
EYA1	Q99502	p.His567Gln	rs763080811	missense variant	-	NC_000008.11:g.71199418G>T	ExAC,gnomAD
EYA1	Q99502	p.Ala568Thr	rs773461292	missense variant	-	NC_000008.11:g.71199417C>T	ExAC,gnomAD
EYA1	Q99502	p.Ala568Val	rs765493132	missense variant	-	NC_000008.11:g.71199416G>A	ExAC,gnomAD
EYA1	Q99502	p.Met569Thr	VAR_064947	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Trp572Ter	RCV000486264	frameshift	-	NC_000008.11:g.71199405dup	ClinVar
EYA1	Q99502	p.Arg573Gly	rs775343638	missense variant	-	NC_000008.11:g.71199402T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile574Thr	rs771831582	missense variant	-	NC_000008.11:g.71199398A>G	ExAC,gnomAD
EYA1	Q99502	p.Ile574Val	rs1048727343	missense variant	-	NC_000008.11:g.71199399T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser575Pro	rs745786446	missense variant	-	NC_000008.11:g.71199396A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser575Cys	rs774201991	missense variant	-	NC_000008.11:g.71199395G>C	ExAC,gnomAD
EYA1	Q99502	p.Ser578Leu	rs900450966	missense variant	-	NC_000008.11:g.71199386G>A	gnomAD
EYA1	Q99502	p.Leu583Pro	RCV000763604	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71199371A>G	ClinVar
EYA1	Q99502	p.Leu583Pro	rs397517920	missense variant	-	NC_000008.11:g.71199371A>G	-
EYA1	Q99502	p.Leu583Pro	rs397517920	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt,dbSNP
EYA1	Q99502	p.Leu583Pro	VAR_016869	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt
EYA1	Q99502	p.Leu583Pro	RCV000041392	missense variant	Rare genetic deafness	NC_000008.11:g.71199371A>G	ClinVar
EYA1	Q99502	p.Asp5Ala	rs767080375	missense variant	-	NC_000008.11:g.71354892T>G	ExAC
EYA1	Q99502	p.Ser8Asn	rs1393157586	missense variant	-	NC_000008.11:g.71354883C>T	TOPMed,gnomAD
EYA1	Q99502	p.Pro9Leu	RCV000762522	missense variant	-	NC_000008.11:g.71354880G>A	ClinVar
EYA1	Q99502	p.Pro9Arg	rs766713665	missense variant	-	NC_000008.11:g.71354880G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro9Leu	rs766713665	missense variant	-	NC_000008.11:g.71354880G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His10Arg	rs1052858465	missense variant	-	NC_000008.11:g.71354877T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser11Asn	rs1164012590	missense variant	-	NC_000008.11:g.71354874C>T	gnomAD
EYA1	Q99502	p.Arg12Pro	rs74720958	missense variant	-	NC_000008.11:g.71354871C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg12Cys	rs530921368	missense variant	-	NC_000008.11:g.71354872G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg12His	rs74720958	missense variant	-	NC_000008.11:g.71354871C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu13Gln	rs768783796	missense variant	-	NC_000008.11:g.71354868A>T	ExAC,gnomAD
EYA1	Q99502	p.Leu13Val	rs776514587	missense variant	-	NC_000008.11:g.71354869G>C	ExAC,gnomAD
EYA1	Q99502	p.Ser17Asn	rs780483424	missense variant	-	NC_000008.11:g.71354856C>T	ExAC,gnomAD
EYA1	Q99502	p.Ser17Gly	rs747231434	missense variant	-	NC_000008.11:g.71354857T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	RCV000406094	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000041394	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000711621	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000310360	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Thr	rs1445404	missense variant	-	NC_000008.11:g.71354848G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	rs1445404	missense variant	-	NC_000008.11:g.71354848G>C	UniProt,dbSNP
EYA1	Q99502	p.Pro20Ala	VAR_024439	missense variant	-	NC_000008.11:g.71354848G>C	UniProt
EYA1	Q99502	p.Pro20Ala	rs1445404	missense variant	-	NC_000008.11:g.71354848G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly22Asp	rs727503049	missense variant	-	NC_000008.11:g.71354841C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly22Asp	RCV000150678	missense variant	-	NC_000008.11:g.71354841C>T	ClinVar
EYA1	Q99502	p.Leu25Ile	rs752696368	missense variant	-	NC_000008.11:g.71354833G>T	ExAC,gnomAD
EYA1	Q99502	p.Gly26Ser	rs199664417	missense variant	-	NC_000008.11:g.71354830C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly26Cys	rs199664417	missense variant	-	NC_000008.11:g.71354830C>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn27Thr	rs751187504	missense variant	-	NC_000008.11:g.71354826T>G	ExAC,gnomAD
EYA1	Q99502	p.Ser28Cys	rs558089479	missense variant	-	NC_000008.11:g.71354823G>C	ExAC,gnomAD
EYA1	Q99502	p.Ile30Val	RCV000607103	missense variant	-	NC_000008.11:g.71354818T>C	ClinVar
EYA1	Q99502	p.Ile30Val	rs1554565600	missense variant	-	NC_000008.11:g.71354818T>C	-
EYA1	Q99502	p.Ile30Met	rs1486534014	missense variant	-	NC_000008.11:g.71354816T>C	gnomAD
EYA1	Q99502	p.Thr36Ile	RCV000150677	missense variant	-	NC_000008.11:g.71354799G>A	ClinVar
EYA1	Q99502	p.Thr36Ile	rs727503048	missense variant	-	NC_000008.11:g.71354799G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Ile	rs750274491	missense variant	-	NC_000008.11:g.71354793T>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Ser	rs750274491	missense variant	-	NC_000008.11:g.71354793T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Asp	rs765646278	missense variant	-	NC_000008.11:g.71354794T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly39Asp	rs267601985	missense variant	-	NC_000008.11:g.71354790C>T	-
EYA1	Q99502	p.Thr40Ala	rs1196497532	missense variant	-	NC_000008.11:g.71354788T>C	TOPMed,gnomAD
EYA1	Q99502	p.Glu41Gln	RCV000234887	missense variant	Renal hypoplasia	NC_000008.11:g.71354785C>G	ClinVar
EYA1	Q99502	p.Glu41Lys	rs561111097	missense variant	-	NC_000008.11:g.71354785C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu41Lys	rs561111097	missense variant	-	NC_000008.11:g.71354785C>T	UniProt,dbSNP
EYA1	Q99502	p.Glu41Lys	VAR_070033	missense variant	-	NC_000008.11:g.71354785C>T	UniProt
EYA1	Q99502	p.Glu41Gln	rs561111097	missense variant	-	NC_000008.11:g.71354785C>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr44Ile	rs774402195	missense variant	-	NC_000008.11:g.71334168G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu45Lys	rs1373021054	missense variant	-	NC_000008.11:g.71334166C>T	gnomAD
EYA1	Q99502	p.Met47Thr	rs1323652552	missense variant	-	NC_000008.11:g.71334159A>G	gnomAD
EYA1	Q99502	p.Ser49Asn	rs958156575	missense variant	-	NC_000008.11:g.71334153C>T	TOPMed
EYA1	Q99502	p.Thr52Ile	rs200206302	missense variant	-	NC_000008.11:g.71334144G>A	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala53Val	rs776352141	missense variant	-	NC_000008.11:g.71334141G>A	ExAC,gnomAD
EYA1	Q99502	p.Thr55Met	RCV000416584	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71334135G>A	ClinVar
EYA1	Q99502	p.Thr55Ala	rs139194909	missense variant	-	NC_000008.11:g.71334136T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr55Met	rs201434219	missense variant	-	NC_000008.11:g.71334135G>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr56Ala	rs1248918883	missense variant	-	NC_000008.11:g.71334133T>C	gnomAD
EYA1	Q99502	p.Thr56Ile	rs1199697219	missense variant	-	NC_000008.11:g.71334132G>A	gnomAD
EYA1	Q99502	p.Asp58Glu	rs370509332	missense variant	-	NC_000008.11:g.71334125G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp58Asn	rs756885537	missense variant	-	NC_000008.11:g.71334127C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly59Arg	rs146216506	missense variant	-	NC_000008.11:g.71334124C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser65Leu	rs1389200174	missense variant	-	NC_000008.11:g.71334105G>A	TOPMed
EYA1	Q99502	p.Gly66Cys	RCV000342060	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71334103C>A	ClinVar
EYA1	Q99502	p.Gly66Cys	RCV000303649	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71334103C>A	ClinVar
EYA1	Q99502	p.Gly66Cys	rs886063089	missense variant	-	NC_000008.11:g.71334103C>A	TOPMed,gnomAD
EYA1	Q99502	p.Gly66Val	rs149289196	missense variant	-	NC_000008.11:g.71334102C>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala68Pro	rs1169615269	missense variant	-	NC_000008.11:g.71334097C>G	TOPMed
EYA1	Q99502	p.Ala68Ser	rs1169615269	missense variant	-	NC_000008.11:g.71334097C>A	TOPMed
EYA1	Q99502	p.Ile69Val	rs1032162749	missense variant	-	NC_000008.11:g.71322266T>C	gnomAD
EYA1	Q99502	p.Ile69Thr	rs371059560	missense variant	-	NC_000008.11:g.71322265A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile69Leu	rs1032162749	missense variant	-	NC_000008.11:g.71322266T>G	gnomAD
EYA1	Q99502	p.Ser71Asn	rs1462564075	missense variant	-	NC_000008.11:g.71322259C>T	TOPMed
EYA1	Q99502	p.Ser72Gly	rs1275882788	missense variant	-	NC_000008.11:g.71322257T>C	gnomAD
EYA1	Q99502	p.Ser73Arg	rs1201735320	missense variant	-	NC_000008.11:g.71322254T>G	TOPMed
EYA1	Q99502	p.Ser73Asn	rs1429110987	missense variant	-	NC_000008.11:g.71322253C>T	TOPMed,gnomAD
EYA1	Q99502	p.Arg77Gln	rs770356158	missense variant	-	NC_000008.11:g.71322241C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg77Ter	rs200164773	stop gained	-	NC_000008.11:g.71322242G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg77Ter	RCV000544733	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71322242G>A	ClinVar
EYA1	Q99502	p.Pro78Arg	rs1414412230	missense variant	-	NC_000008.11:g.71322238G>C	gnomAD
EYA1	Q99502	p.Thr79Ala	RCV000522348	missense variant	-	NC_000008.11:g.71322236T>C	ClinVar
EYA1	Q99502	p.Thr79Ala	rs1554550645	missense variant	-	NC_000008.11:g.71322236T>C	-
EYA1	Q99502	p.Gln81Ter	RCV000600507	nonsense	Rare genetic deafness	NC_000008.11:g.71322230G>A	ClinVar
EYA1	Q99502	p.Gln81Ter	rs1554550637	stop gained	-	NC_000008.11:g.71322230G>A	-
EYA1	Q99502	p.Phe82Tyr	rs777629266	missense variant	-	NC_000008.11:g.71322226A>T	ExAC,gnomAD
EYA1	Q99502	p.Phe82Ser	rs777629266	missense variant	-	NC_000008.11:g.71322226A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser83Cys	rs748482012	missense variant	-	NC_000008.11:g.71322223G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser83Pro	rs1191745624	missense variant	-	NC_000008.11:g.71322224A>G	gnomAD
EYA1	Q99502	p.Ser83Phe	rs748482012	missense variant	-	NC_000008.11:g.71322223G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro85Ser	rs1237828849	missense variant	-	NC_000008.11:g.71322218G>A	TOPMed,gnomAD
EYA1	Q99502	p.Gln86Arg	rs781429176	missense variant	-	NC_000008.11:g.71322214T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile87Thr	rs755452077	missense variant	-	NC_000008.11:g.71322211A>G	ExAC,gnomAD
EYA1	Q99502	p.Tyr88His	rs534707284	missense variant	-	NC_000008.11:g.71322209A>G	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Pro89Leu	rs368351103	missense variant	-	NC_000008.11:g.71322205G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro89Ser	rs1255833754	missense variant	-	NC_000008.11:g.71322206G>A	gnomAD
EYA1	Q99502	p.Ser90Phe	rs1379371014	missense variant	-	NC_000008.11:g.71322202G>A	gnomAD
EYA1	Q99502	p.Asn91Asp	rs750621028	missense variant	-	NC_000008.11:g.71322200T>C	ExAC,gnomAD
EYA1	Q99502	p.ProTyr93ProCysTerTyr	rs1438639316	stop gained	-	NC_000008.11:g.71321873_71321874insTAACAT	gnomAD
EYA1	Q99502	p.Pro95Leu	rs759310166	missense variant	-	NC_000008.11:g.71321868G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro95Gln	rs759310166	missense variant	-	NC_000008.11:g.71321868G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro95Ser	VAR_064942	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.His96Arg	rs377434964	missense variant	-	NC_000008.11:g.71321865T>C	ESP,ExAC,gnomAD
EYA1	Q99502	p.Ile97Val	rs1422583050	missense variant	-	NC_000008.11:g.71321863T>C	TOPMed,gnomAD
EYA1	Q99502	p.Leu98Phe	rs766184209	missense variant	-	NC_000008.11:g.71321860G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro99Arg	rs763005068	missense variant	-	NC_000008.11:g.71321856G>C	ExAC,gnomAD
EYA1	Q99502	p.Pro99Leu	rs763005068	missense variant	-	NC_000008.11:g.71321856G>A	ExAC,gnomAD
EYA1	Q99502	p.Thr100Asn	RCV000156019	missense variant	-	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	RCV000281370	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	RCV000371539	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	rs373501480	missense variant	-	NC_000008.11:g.71321853G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro101Ala	rs138603867	missense variant	-	NC_000008.11:g.71321851G>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser103Ala	rs1488509440	missense variant	-	NC_000008.11:g.71321845A>C	gnomAD
EYA1	Q99502	p.Ala107Thr	rs1413761721	missense variant	-	NC_000008.11:g.71321833C>T	TOPMed,gnomAD
EYA1	Q99502	p.Tyr109Cys	rs1489979978	missense variant	-	NC_000008.11:g.71321826T>C	gnomAD
EYA1	Q99502	p.Tyr109His	RCV000294529	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Tyr109His	RCV000335524	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Tyr109His	rs141779040	missense variant	-	NC_000008.11:g.71321827A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr109His	RCV000729909	missense variant	-	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Gly110Glu	rs769041202	missense variant	-	NC_000008.11:g.71321823C>T	ExAC,gnomAD
EYA1	Q99502	p.Gln113Arg	rs184596522	missense variant	-	NC_000008.11:g.71321814T>C	1000Genomes
EYA1	Q99502	p.Gln113Lys	rs747371845	missense variant	-	NC_000008.11:g.71321815G>T	ExAC,gnomAD
EYA1	Q99502	p.Phe114Leu	rs772521196	missense variant	-	NC_000008.11:g.71321812A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Phe114Tyr	rs746388153	missense variant	-	NC_000008.11:g.71321811A>T	ExAC,gnomAD
EYA1	Q99502	p.Thr115Asn	rs1368387497	missense variant	-	NC_000008.11:g.71321808G>T	gnomAD
EYA1	Q99502	p.Thr115Ile	rs1368387497	missense variant	-	NC_000008.11:g.71321808G>A	gnomAD
EYA1	Q99502	p.Gly117Glu	rs1293217360	missense variant	-	NC_000008.11:g.71321802C>T	gnomAD
EYA1	Q99502	p.Met118Ile	rs1362617814	missense variant	-	NC_000008.11:g.71321798C>T	TOPMed,gnomAD
EYA1	Q99502	p.Met118Ile	rs1362617814	missense variant	-	NC_000008.11:g.71321798C>A	TOPMed,gnomAD
EYA1	Q99502	p.Met118Val	rs778898100	missense variant	-	NC_000008.11:g.71321800T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Met118Leu	rs778898100	missense variant	-	NC_000008.11:g.71321800T>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala121Thr	rs757399419	missense variant	-	NC_000008.11:g.71321791C>T	ExAC,gnomAD
EYA1	Q99502	p.Ala121Asp	rs754082186	missense variant	-	NC_000008.11:g.71321790G>T	ExAC,gnomAD
EYA1	Q99502	p.Ala121Pro	rs757399419	missense variant	-	NC_000008.11:g.71321791C>G	ExAC,gnomAD
EYA1	Q99502	p.Thr122Arg	rs971427687	missense variant	-	NC_000008.11:g.71321787G>C	gnomAD
EYA1	Q99502	p.Thr126Lys	rs375521116	missense variant	-	NC_000008.11:g.71321775G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr126Met	rs375521116	missense variant	-	NC_000008.11:g.71321775G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro128Leu	rs1478602440	missense variant	-	NC_000008.11:g.71321769G>A	gnomAD
EYA1	Q99502	p.Gln129His	rs1315972086	missense variant	-	NC_000008.11:g.71321765C>G	TOPMed
EYA1	Q99502	p.Gln132Ter	RCV000215585	frameshift	Rare genetic deafness	NC_000008.11:g.71321748_71321758del	ClinVar
EYA1	Q99502	p.Pro133Leu	rs138234228	missense variant	-	NC_000008.11:g.71321754G>A	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Gly135Ser	RCV000490264	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71321749C>T	ClinVar
EYA1	Q99502	p.Gly135Ser	RCV000825655	missense variant	-	NC_000008.11:g.71321749C>T	ClinVar
EYA1	Q99502	p.Gly135Asp	rs776314304	missense variant	-	NC_000008.11:g.71321748C>T	ExAC,gnomAD
EYA1	Q99502	p.Gly135Ser	rs747476629	missense variant	-	NC_000008.11:g.71321749C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser138Leu	rs1245501738	missense variant	-	NC_000008.11:g.71321739G>A	TOPMed
EYA1	Q99502	p.Tyr139His	RCV000850159	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71321737A>G	ClinVar
EYA1	Q99502	p.Tyr139His	rs763614581	missense variant	-	NC_000008.11:g.71321737A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr139Asn	rs763614581	missense variant	-	NC_000008.11:g.71321737A>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly140Ser	VAR_064943	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Leu142Phe	rs749811991	missense variant	-	NC_000008.11:g.71317682C>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Trp143Ter	rs727504494	stop gained	-	NC_000008.11:g.71317680C>T	ExAC,gnomAD
EYA1	Q99502	p.Trp143Leu	rs727504494	missense variant	-	NC_000008.11:g.71317680C>A	ExAC,gnomAD
EYA1	Q99502	p.Trp143Ter	RCV000155629	nonsense	Rare genetic deafness	NC_000008.11:g.71317680C>T	ClinVar
EYA1	Q99502	p.Trp143Arg	rs773097343	missense variant	-	NC_000008.11:g.71317681A>G	ExAC,gnomAD
EYA1	Q99502	p.Ala144Thr	rs1460464467	missense variant	-	NC_000008.11:g.71317678C>T	TOPMed
EYA1	Q99502	p.Gly145Asp	rs1182285380	missense variant	-	NC_000008.11:g.71317674C>T	gnomAD
EYA1	Q99502	p.Ile146Val	rs202188500	missense variant	-	NC_000008.11:g.71317672T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser155Ala	rs13255076	missense variant	-	NC_000008.11:g.71317645A>C	ExAC,gnomAD
EYA1	Q99502	p.Ser155Thr	rs13255076	missense variant	-	NC_000008.11:g.71317645A>T	ExAC,gnomAD
EYA1	Q99502	p.Ser157Thr	rs778872780	missense variant	-	NC_000008.11:g.71317639A>T	ExAC,gnomAD
EYA1	Q99502	p.Pro158Ser	rs142344434	missense variant	-	NC_000008.11:g.71317636G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro158Leu	rs764732053	missense variant	-	NC_000008.11:g.71317635G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro158His	rs764732053	missense variant	-	NC_000008.11:g.71317635G>T	ExAC,gnomAD
EYA1	Q99502	p.Gln160Glu	rs763509251	missense variant	-	NC_000008.11:g.71317630G>C	ExAC,gnomAD
EYA1	Q99502	p.Gly162Glu	rs1411069397	missense variant	-	NC_000008.11:g.71317623C>T	gnomAD
EYA1	Q99502	p.Leu164Pro	RCV000609247	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
EYA1	Q99502	p.Leu164Pro	RCV000512945	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
EYA1	Q99502	p.Leu164Pro	rs1007684729	missense variant	-	NC_000008.11:g.71317617A>G	TOPMed,gnomAD
EYA1	Q99502	p.Ser165Ile	rs1377460458	missense variant	-	NC_000008.11:g.71317614C>A	gnomAD
EYA1	Q99502	p.Tyr166Cys	rs138353102	missense variant	-	NC_000008.11:g.71317611T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Phe170Ser	rs147066127	missense variant	-	NC_000008.11:g.71317599A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser171Asn	rs759221073	missense variant	-	NC_000008.11:g.71317596C>T	ExAC,gnomAD
EYA1	Q99502	p.Thr172Ile	rs751860428	missense variant	-	NC_000008.11:g.71317593G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro173Leu	rs766767570	missense variant	-	NC_000008.11:g.71317590G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro175Arg	rs201908026	missense variant	-	NC_000008.11:g.71317584G>C	1000Genomes,gnomAD
EYA1	Q99502	p.Gln177His	rs1385538076	missense variant	-	NC_000008.11:g.71317577C>A	TOPMed
EYA1	Q99502	p.Ala178Ter	RCV000634147	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71317577del	ClinVar
EYA1	Q99502	p.Ala178Val	rs868367252	missense variant	-	NC_000008.11:g.71317575G>A	gnomAD
EYA1	Q99502	p.Pro179Ser	rs368131485	missense variant	-	NC_000008.11:g.71317573G>A	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Pro179Leu	rs1262764388	missense variant	-	NC_000008.11:g.71317572G>A	TOPMed
EYA1	Q99502	p.Ser181Gly	rs1022352668	missense variant	-	NC_000008.11:g.71317567T>C	TOPMed
EYA1	Q99502	p.Tyr182His	rs200063586	missense variant	-	NC_000008.11:g.71317564A>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr182Phe	rs761991031	missense variant	-	NC_000008.11:g.71317563T>A	ExAC,gnomAD
EYA1	Q99502	p.Gln183Ter	rs1289325016	stop gained	-	NC_000008.11:g.71317561G>A	gnomAD
EYA1	Q99502	p.Gln183Arg	RCV000179762	missense variant	-	NC_000008.11:g.71317560T>C	ClinVar
EYA1	Q99502	p.Gln183Arg	rs794727845	missense variant	-	NC_000008.11:g.71317560T>C	gnomAD
EYA1	Q99502	p.Met184Thr	rs1241997853	missense variant	-	NC_000008.11:g.71317557A>G	gnomAD
EYA1	Q99502	p.Thr191Pro	rs1418597577	missense variant	-	NC_000008.11:g.71299706T>G	TOPMed
EYA1	Q99502	p.Ser193Leu	rs377222777	missense variant	-	NC_000008.11:g.71299699G>A	ESP,TOPMed
EYA1	Q99502	p.Ile195Met	rs780672889	missense variant	-	NC_000008.11:g.71299692T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr197Ile	rs1173256027	missense variant	-	NC_000008.11:g.71299687G>A	gnomAD
EYA1	Q99502	p.Asn200Lys	rs1320967168	missense variant	-	NC_000008.11:g.71299677A>T	gnomAD
EYA1	Q99502	p.Ser201Ter	RCV000733277	nonsense	-	NC_000008.11:g.71299675G>C	ClinVar
EYA1	Q99502	p.Ser201Ala	rs751187579	missense variant	-	NC_000008.11:g.71299676A>C	ExAC,gnomAD
EYA1	Q99502	p.Leu202Ter	RCV000627570	frameshift	-	NC_000008.11:g.71299672del	ClinVar
EYA1	Q99502	p.Leu202Phe	rs1196110281	missense variant	-	NC_000008.11:g.71299673G>A	gnomAD
EYA1	Q99502	p.Thr203Ala	rs758016427	missense variant	-	NC_000008.11:g.71299670T>C	ExAC,gnomAD
EYA1	Q99502	p.Thr203Ile	rs1057241340	missense variant	-	NC_000008.11:g.71299669G>A	gnomAD
EYA1	Q99502	p.Ser206Phe	rs1444096031	missense variant	-	NC_000008.11:g.71299660G>A	TOPMed,gnomAD
EYA1	Q99502	p.Ser210Ile	rs1202544664	missense variant	-	NC_000008.11:g.71299648C>A	gnomAD
EYA1	Q99502	p.Ser211Leu	rs757772659	missense variant	-	NC_000008.11:g.71299645G>A	ExAC,gnomAD
EYA1	Q99502	p.Asp214Asn	RCV000681904	missense variant	-	NC_000008.11:g.71299233C>T	ClinVar
EYA1	Q99502	p.Pro216Arg	rs200923204	missense variant	-	NC_000008.11:g.71299226G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro216Leu	rs200923204	missense variant	-	NC_000008.11:g.71299226G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser217Phe	rs1162614873	missense variant	-	NC_000008.11:g.71299223G>A	gnomAD
EYA1	Q99502	p.Pro219Leu	rs756722124	missense variant	-	NC_000008.11:g.71299217G>A	ExAC,gnomAD
EYA1	Q99502	p.Gln223Arg	rs1382039361	missense variant	-	NC_000008.11:g.71299205T>C	gnomAD
EYA1	Q99502	p.Gly224Val	rs201509408	missense variant	-	NC_000008.11:g.71299202C>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly224Asp	rs201509408	missense variant	-	NC_000008.11:g.71299202C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly224Val	RCV000490441	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299202C>A	ClinVar
EYA1	Q99502	p.Ala227Thr	rs202168841	missense variant	-	NC_000008.11:g.71299194C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala227Pro	rs202168841	missense variant	-	NC_000008.11:g.71299194C>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gln228Ter	RCV000687593	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299191G>A	ClinVar
EYA1	Q99502	p.Tyr230Cys	rs1213738374	missense variant	-	NC_000008.11:g.71299184T>C	TOPMed
EYA1	Q99502	p.Ser233Leu	rs1485766576	missense variant	-	NC_000008.11:g.71299175G>A	TOPMed
EYA1	Q99502	p.Pro234Leu	rs761632944	missense variant	-	NC_000008.11:g.71299172G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr235Phe	rs969843445	missense variant	-	NC_000008.11:g.71299169T>A	TOPMed
EYA1	Q99502	p.His238Arg	rs1344244290	missense variant	-	NC_000008.11:g.71299160T>C	gnomAD
EYA1	Q99502	p.Tyr239Phe	rs746932579	missense variant	-	NC_000008.11:g.71299157T>A	ExAC,gnomAD
EYA1	Q99502	p.Tyr239Cys	rs746932579	missense variant	-	NC_000008.11:g.71299157T>C	ExAC,gnomAD
EYA1	Q99502	p.Met240Val	rs771549701	missense variant	-	NC_000008.11:g.71299155T>C	ExAC,gnomAD
EYA1	Q99502	p.Ser242Gly	rs191838840	missense variant	-	NC_000008.11:g.71299149T>C	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser243Ile	rs374722758	missense variant	-	NC_000008.11:g.71299145C>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Asn244Asp	rs1278065086	missense variant	-	NC_000008.11:g.71299143T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser246Thr	rs1302329264	missense variant	-	NC_000008.11:g.71299136C>G	gnomAD
EYA1	Q99502	p.Thr248Met	RCV000264927	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71299130G>A	ClinVar
EYA1	Q99502	p.Thr248Ala	rs1296125164	missense variant	-	NC_000008.11:g.71299131T>C	TOPMed,gnomAD
EYA1	Q99502	p.Thr248Met	rs186736708	missense variant	-	NC_000008.11:g.71299130G>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr248Met	RCV000359341	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71299130G>A	ClinVar
EYA1	Q99502	p.Thr252Pro	rs1418060801	missense variant	-	NC_000008.11:g.71299119T>G	gnomAD
EYA1	Q99502	p.Thr252Ile	rs376238434	missense variant	-	NC_000008.11:g.71299118G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn253Ser	RCV000520903	missense variant	-	NC_000008.11:g.71299115T>C	ClinVar
EYA1	Q99502	p.Asn253Ile	rs960785529	missense variant	-	NC_000008.11:g.71299115T>A	TOPMed,gnomAD
EYA1	Q99502	p.Asn253Ser	rs960785529	missense variant	-	NC_000008.11:g.71299115T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ala254Asp	rs1281786069	missense variant	-	NC_000008.11:g.71299112G>T	TOPMed
EYA1	Q99502	p.Gln257His	rs149833469	missense variant	-	NC_000008.11:g.71299102C>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu260Val	rs751772774	missense variant	-	NC_000008.11:g.71299094T>A	ExAC,gnomAD
EYA1	Q99502	p.Pro261Thr	rs766545848	missense variant	-	NC_000008.11:g.71299092G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro261Leu	RCV000607831	missense variant	-	NC_000008.11:g.71299091G>A	ClinVar
EYA1	Q99502	p.Pro261Gln	rs77825059	missense variant	-	NC_000008.11:g.71299091G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro261Leu	rs77825059	missense variant	-	NC_000008.11:g.71299091G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly264Val	rs775347972	missense variant	-	NC_000008.11:g.71299082C>A	ExAC,gnomAD
EYA1	Q99502	p.Ser267Arg	rs1346438963	missense variant	-	NC_000008.11:g.71299072G>C	gnomAD
EYA1	Q99502	p.Ser267Gly	rs771589229	missense variant	-	NC_000008.11:g.71299074T>C	ExAC,gnomAD
EYA1	Q99502	p.Ala269Glu	rs368165352	missense variant	-	NC_000008.11:g.71299067G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val270Ala	rs1342127067	missense variant	-	NC_000008.11:g.71299064A>G	TOPMed,gnomAD
EYA1	Q99502	p.Thr271Ile	rs774032992	missense variant	-	NC_000008.11:g.71299061G>A	ExAC,gnomAD
EYA1	Q99502	p.Asp272Gly	rs748966524	missense variant	-	NC_000008.11:g.71299058T>C	ExAC,gnomAD
EYA1	Q99502	p.Asp272Tyr	rs1343323235	missense variant	-	NC_000008.11:g.71299059C>A	gnomAD
EYA1	Q99502	p.Asp272Glu	rs1441640157	missense variant	-	NC_000008.11:g.71299057A>C	TOPMed
EYA1	Q99502	p.Pro273Ser	rs778220979	missense variant	-	NC_000008.11:g.71299056G>A	ExAC
EYA1	Q99502	p.Thr274Lys	rs900664550	missense variant	-	NC_000008.11:g.71299052G>T	TOPMed
EYA1	Q99502	p.Tyr277Cys	rs374772533	missense variant	-	NC_000008.11:g.71271894T>C	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Ser278Arg	rs1185950054	missense variant	-	NC_000008.11:g.71271890G>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser282Ile	rs1468448384	missense variant	-	NC_000008.11:g.71271879C>A	TOPMed
EYA1	Q99502	p.Pro283Leu	rs979855303	missense variant	-	NC_000008.11:g.71271876G>A	TOPMed,gnomAD
EYA1	Q99502	p.Thr285Ser	rs781635264	missense variant	-	NC_000008.11:g.71271871T>A	ExAC,gnomAD
EYA1	Q99502	p.Thr285Ala	rs781635264	missense variant	-	NC_000008.11:g.71271871T>C	ExAC,gnomAD
EYA1	Q99502	p.Pro286Leu	rs374615482	missense variant	-	NC_000008.11:g.71271867G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro286Ser	rs1252089449	missense variant	-	NC_000008.11:g.71271868G>A	gnomAD
EYA1	Q99502	p.Ile287Phe	rs747518329	missense variant	-	NC_000008.11:g.71271865T>A	ExAC
EYA1	Q99502	p.Ile287Thr	rs1305551163	missense variant	-	NC_000008.11:g.71271864A>G	gnomAD
EYA1	Q99502	p.Lys288Thr	rs1314840587	missense variant	-	NC_000008.11:g.71271861T>G	gnomAD
EYA1	Q99502	p.Lys288Asn	rs1246643625	missense variant	-	NC_000008.11:g.71271860T>G	gnomAD
EYA1	Q99502	p.Asp289Val	rs1029683507	missense variant	-	NC_000008.11:g.71271858T>A	TOPMed
EYA1	Q99502	p.Asp289Tyr	rs201504674	missense variant	-	NC_000008.11:g.71271859C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp289Tyr	RCV000595354	missense variant	-	NC_000008.11:g.71271859C>A	ClinVar
EYA1	Q99502	p.Asp291Asn	rs779045401	missense variant	-	NC_000008.11:g.71271853C>T	ExAC,gnomAD
EYA1	Q99502	p.Asp291His	rs779045401	missense variant	-	NC_000008.11:g.71271853C>G	ExAC,gnomAD
EYA1	Q99502	p.Asp291Gly	rs1405459798	missense variant	-	NC_000008.11:g.71271852T>C	TOPMed
EYA1	Q99502	p.Asp293Val	rs1410593568	missense variant	-	NC_000008.11:g.71271846T>A	TOPMed
EYA1	Q99502	p.Arg294Gln	rs757532396	missense variant	-	NC_000008.11:g.71271843C>T	ExAC,gnomAD
EYA1	Q99502	p.Leu295Ser	rs146687496	missense variant	-	NC_000008.11:g.71271840A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg296Cys	rs142104253	missense variant	-	NC_000008.11:g.71271838G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg296His	rs181191349	missense variant	-	NC_000008.11:g.71271837C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg297Ter	RCV000695248	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271835G>A	ClinVar
EYA1	Q99502	p.Arg297Ter	RCV000492842	nonsense	-	NC_000008.11:g.71271835G>A	ClinVar
EYA1	Q99502	p.Arg297Gln	RCV000326184	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271834C>T	ClinVar
EYA1	Q99502	p.Arg297Ter	rs1131691667	stop gained	-	NC_000008.11:g.71271835G>A	-
EYA1	Q99502	p.Arg297Gln	RCV000380843	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271834C>T	ClinVar
EYA1	Q99502	p.Arg297Gln	rs148647933	missense variant	-	NC_000008.11:g.71271834C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly298Asp	rs1385104528	missense variant	-	NC_000008.11:g.71271831C>T	TOPMed,gnomAD
EYA1	Q99502	p.Gly298Ser	rs765961794	missense variant	-	NC_000008.11:g.71271832C>T	ExAC,gnomAD
EYA1	Q99502	p.Ser299Ter	RCV000219278	nonsense	Rare genetic deafness	NC_000008.11:g.71271828G>T	ClinVar
EYA1	Q99502	p.Ser299Ter	rs876657691	stop gained	-	NC_000008.11:g.71271828G>T	-
EYA1	Q99502	p.Lys302Gln	rs887536064	missense variant	-	NC_000008.11:g.71271820T>G	TOPMed
EYA1	Q99502	p.Lys302Arg	rs1305721914	missense variant	-	NC_000008.11:g.71271819T>C	gnomAD
EYA1	Q99502	p.Arg304His	rs1036380891	missense variant	-	NC_000008.11:g.71271813C>T	gnomAD
EYA1	Q99502	p.Arg304Cys	rs772877702	missense variant	-	NC_000008.11:g.71271814G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg306Trp	rs761539105	missense variant	-	NC_000008.11:g.71271808G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg306Gln	rs373250373	missense variant	-	NC_000008.11:g.71271807C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly307Val	rs1435743529	missense variant	-	NC_000008.11:g.71271804C>A	TOPMed
EYA1	Q99502	p.Gly307Asp	rs1435743529	missense variant	-	NC_000008.11:g.71271804C>T	TOPMed
EYA1	Q99502	p.Arg308Gln	RCV000266374	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271801C>T	ClinVar
EYA1	Q99502	p.Arg308Gln	RCV000379541	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271801C>T	ClinVar
EYA1	Q99502	p.Arg308Ter	RCV000008391	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271802G>A	ClinVar
EYA1	Q99502	p.Arg308Gly	rs121909195	missense variant	-	NC_000008.11:g.71271802G>C	ExAC,gnomAD
EYA1	Q99502	p.Arg308Gln	rs369822742	missense variant	-	NC_000008.11:g.71271801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg308Ter	rs121909195	stop gained	-	NC_000008.11:g.71271802G>A	ExAC,gnomAD
EYA1	Q99502	p.Arg308Ter	RCV000844696	nonsense	Rare genetic deafness	NC_000008.11:g.71271802G>A	ClinVar
EYA1	Q99502	p.Asn310Asp	rs1299287501	missense variant	-	NC_000008.11:g.71271796T>C	TOPMed,gnomAD
EYA1	Q99502	p.Asn310Lys	rs745910111	missense variant	-	NC_000008.11:g.71271794G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro313Leu	rs868681957	missense variant	-	NC_000008.11:g.71271786G>A	-
EYA1	Q99502	p.Pro316Ser	rs1389336466	missense variant	-	NC_000008.11:g.71271778G>A	gnomAD
EYA1	Q99502	p.Glu322Gln	rs754882532	missense variant	-	NC_000008.11:g.71271760C>G	ExAC,gnomAD
EYA1	Q99502	p.Val324Ala	rs1431798771	missense variant	-	NC_000008.11:g.71269819A>G	gnomAD
EYA1	Q99502	p.Phe325Leu	rs1345089916	missense variant	-	NC_000008.11:g.71269815G>T	TOPMed
EYA1	Q99502	p.Asp328Asn	rs1177416665	missense variant	-	NC_000008.11:g.71269808C>T	gnomAD
EYA1	Q99502	p.Ile333Val	rs1480195366	missense variant	-	NC_000008.11:g.71269793T>C	gnomAD
EYA1	Q99502	p.Ile334Val	rs1220662407	missense variant	-	NC_000008.11:g.71269790T>C	TOPMed
EYA1	Q99502	p.Ser338Ter	RCV000634144	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269775_71269778del	ClinVar
EYA1	Q99502	p.Thr341Ile	rs1266528712	missense variant	-	NC_000008.11:g.71269768G>A	gnomAD
EYA1	Q99502	p.Ala345Thr	rs770168786	missense variant	-	NC_000008.11:g.71269757C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg347Thr	rs1202903388	missense variant	-	NC_000008.11:g.71269750C>G	gnomAD
EYA1	Q99502	p.Tyr348Ter	RCV000625536	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269746A>C	ClinVar
EYA1	Q99502	p.Tyr348Ter	rs1554615511	stop gained	-	NC_000008.11:g.71269746A>C	-
EYA1	Q99502	p.Arg361Ter	RCV000008406	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71244662G>A	ClinVar
EYA1	Q99502	p.Arg361Gln	rs145219836	missense variant	-	NC_000008.11:g.71244661C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg361Ter	RCV000008405	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71244662G>A	ClinVar
EYA1	Q99502	p.Arg361Ter	rs121909202	stop gained	-	NC_000008.11:g.71244662G>A	gnomAD
EYA1	Q99502	p.Met362Ile	rs907099635	missense variant	-	NC_000008.11:g.71244657C>T	TOPMed
EYA1	Q99502	p.Glu363Lys	RCV000008399	missense variant	Anterior segment anomalies	NC_000008.11:g.71244656C>T	ClinVar
EYA1	Q99502	p.Glu363Lys	rs121909198	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt,dbSNP
EYA1	Q99502	p.Glu363Lys	VAR_016864	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt
EYA1	Q99502	p.Glu363Lys	rs121909198	missense variant	-	NC_000008.11:g.71244656C>T	-
EYA1	Q99502	p.Glu363Val	VAR_064944	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Glu364Ter	RCV000221224	nonsense	Rare genetic deafness	NC_000008.11:g.71244653C>A	ClinVar
EYA1	Q99502	p.Glu364Asp	rs778958308	missense variant	-	NC_000008.11:g.71244651T>G	ExAC,gnomAD
EYA1	Q99502	p.Glu364Ter	rs876657689	stop gained	-	NC_000008.11:g.71244653C>A	-
EYA1	Q99502	p.Met365Thr	rs1484562404	missense variant	-	NC_000008.11:g.71244649A>G	TOPMed
EYA1	Q99502	p.Asn368Ser	rs757164392	missense variant	-	NC_000008.11:g.71244640T>C	ExAC,gnomAD
EYA1	Q99502	p.Asn368Asp	rs1410388380	missense variant	-	NC_000008.11:g.71244641T>C	gnomAD
EYA1	Q99502	p.Leu369Phe	RCV000149002	missense variant	Malignant tumor of prostate	NC_000008.11:g.71244636C>A	ClinVar
EYA1	Q99502	p.Leu369Phe	rs193920835	missense variant	-	NC_000008.11:g.71244636C>A	ExAC,gnomAD
EYA1	Q99502	p.Thr372Ile	rs777268280	missense variant	-	NC_000008.11:g.71244628G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His373Ter	RCV000255636	frameshift	-	NC_000008.11:g.71244626_71244627GT[2]	ClinVar
EYA1	Q99502	p.His373Tyr	rs371974738	missense variant	-	NC_000008.11:g.71244626G>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Leu374Ter	RCV000041385	frameshift	Rare genetic deafness	NC_000008.11:g.71244621del	ClinVar
EYA1	Q99502	p.Asp378Tyr	rs1421127358	missense variant	-	NC_000008.11:g.71244611C>A	TOPMed
EYA1	Q99502	p.Glu381Gln	rs751887655	missense variant	-	NC_000008.11:g.71217023C>G	ExAC,gnomAD
EYA1	Q99502	p.Cys382Arg	rs766669312	missense variant	-	NC_000008.11:g.71217020A>G	ExAC,gnomAD
EYA1	Q99502	p.Cys382Tyr	rs1385811609	missense variant	-	NC_000008.11:g.71217019C>T	TOPMed,gnomAD
EYA1	Q99502	p.Asp383Glu	rs1338058043	missense variant	-	NC_000008.11:g.71217015G>T	gnomAD
EYA1	Q99502	p.Val385Leu	rs1470014710	missense variant	-	NC_000008.11:g.71217011C>G	gnomAD
EYA1	Q99502	p.His386Tyr	rs751039720	missense variant	-	NC_000008.11:g.71217008G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val390Ala	rs762034700	missense variant	-	NC_000008.11:g.71216995A>G	ExAC,gnomAD
EYA1	Q99502	p.Val390Gly	rs762034700	missense variant	-	NC_000008.11:g.71216995A>C	ExAC,gnomAD
EYA1	Q99502	p.Asn395Lys	rs372488542	missense variant	-	NC_000008.11:g.71216979G>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly396Arg	RCV000150674	missense variant	-	NC_000008.11:g.71216978C>T	ClinVar
EYA1	Q99502	p.Gly396Arg	rs727503047	missense variant	-	NC_000008.11:g.71216978C>T	gnomAD
EYA1	Q99502	p.Gln397Arg	rs760811461	missense variant	-	NC_000008.11:g.71216974T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr406Arg	rs376251253	missense variant	-	NC_000008.11:g.71216835G>C	ESP
EYA1	Q99502	p.Ala411Pro	rs1392799354	missense variant	-	NC_000008.11:g.71216821C>G	TOPMed,gnomAD
EYA1	Q99502	p.Ala412Gly	rs1388902851	missense variant	-	NC_000008.11:g.71216817G>C	TOPMed
EYA1	Q99502	p.Ala413Val	rs1325043214	missense variant	-	NC_000008.11:g.71216814G>A	TOPMed
EYA1	Q99502	p.Ser415Arg	rs769657024	missense variant	-	NC_000008.11:g.71216807A>C	ExAC,gnomAD
EYA1	Q99502	p.Cys419Arg	rs761755658	missense variant	-	NC_000008.11:g.71216797A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu420Phe	rs768120097	missense variant	-	NC_000008.11:g.71216792C>G	ExAC,gnomAD
EYA1	Q99502	p.Leu420Phe	rs768120097	missense variant	-	NC_000008.11:g.71216792C>A	ExAC,gnomAD
EYA1	Q99502	p.Thr422Pro	rs779623204	missense variant	-	NC_000008.11:g.71216788T>G	ExAC,gnomAD
EYA1	Q99502	p.Thr422Ser	rs779623204	missense variant	-	NC_000008.11:g.71216788T>A	ExAC,gnomAD
EYA1	Q99502	p.Gly423Ala	rs771779342	missense variant	-	NC_000008.11:g.71216784C>G	ExAC,gnomAD
EYA1	Q99502	p.Gly423Val	rs771779342	missense variant	-	NC_000008.11:g.71216784C>A	ExAC,gnomAD
EYA1	Q99502	p.Val424Ile	rs746195192	missense variant	-	NC_000008.11:g.71216782C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg425Trp	rs779423947	missense variant	-	NC_000008.11:g.71216779G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg425Gln	rs757780695	missense variant	-	NC_000008.11:g.71216778C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg425Gly	rs779423947	missense variant	-	NC_000008.11:g.71216779G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly426Ser	RCV000367199	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71216776C>T	ClinVar
EYA1	Q99502	p.Gly426Ala	rs1181243766	missense variant	-	NC_000008.11:g.71216775C>G	gnomAD
EYA1	Q99502	p.Gly426Ser	RCV000309264	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71216776C>T	ClinVar
EYA1	Q99502	p.Gly426Ser	rs121909199	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt,dbSNP
EYA1	Q99502	p.Gly426Ser	VAR_016865	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt
EYA1	Q99502	p.Gly426Ser	rs121909199	missense variant	-	NC_000008.11:g.71216776C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly427Asp	rs752939522	missense variant	-	NC_000008.11:g.71216772C>T	ExAC,gnomAD
EYA1	Q99502	p.Gly427Ser	rs756186032	missense variant	-	NC_000008.11:g.71216773C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val428Met	rs1488650592	missense variant	-	NC_000008.11:g.71216770C>T	TOPMed
EYA1	Q99502	p.Asp429Gly	VAR_016866	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Met431Thr	rs1211420496	missense variant	-	NC_000008.11:g.71216760A>G	TOPMed
EYA1	Q99502	p.Arg432Lys	RCV000150672	missense variant	-	NC_000008.11:g.71216757C>T	ClinVar
EYA1	Q99502	p.Arg432Lys	rs727503046	missense variant	-	NC_000008.11:g.71216757C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg432Gly	rs1267032760	missense variant	-	NC_000008.11:g.71216758T>C	TOPMed
EYA1	Q99502	p.Lys433Arg	rs759781016	missense variant	-	NC_000008.11:g.71216754T>C	ExAC,gnomAD
EYA1	Q99502	p.Ala435Thr	rs138550731	missense variant	-	NC_000008.11:g.71216749C>T	1000Genomes
EYA1	Q99502	p.Arg437Ser	rs1240529273	missense variant	-	NC_000008.11:g.71216743G>T	TOPMed,gnomAD
EYA1	Q99502	p.Arg437Cys	rs1240529273	missense variant	-	NC_000008.11:g.71216743G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg437His	rs750164019	missense variant	-	NC_000008.11:g.71216742C>T	ExAC,gnomAD
EYA1	Q99502	p.Tyr438Phe	rs1374801818	missense variant	-	NC_000008.11:g.71216739T>A	TOPMed,gnomAD
EYA1	Q99502	p.Tyr438Cys	rs1374801818	missense variant	-	NC_000008.11:g.71216739T>C	TOPMed,gnomAD
EYA1	Q99502	p.Arg440Trp	RCV000219608	missense variant	-	NC_000008.11:g.71216734G>A	ClinVar
EYA1	Q99502	p.Arg440Gln	rs121909196	missense variant	-	NC_000008.11:g.71216733C>T	-
EYA1	Q99502	p.Arg440Gln	rs121909196	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt,dbSNP
EYA1	Q99502	p.Arg440Gln	VAR_016867	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt
EYA1	Q99502	p.Arg440Trp	rs376931849	missense variant	-	NC_000008.11:g.71216734G>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Arg440Gln	RCV000008397	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216733C>T	ClinVar
EYA1	Q99502	p.Arg440Gln	RCV000844628	missense variant	Rare genetic deafness	NC_000008.11:g.71216733C>T	ClinVar
EYA1	Q99502	p.Glu443Ter	RCV000634146	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216723_71216724CT[1]	ClinVar
EYA1	Q99502	p.Ile444Phe	rs533769812	missense variant	-	NC_000008.11:g.71216722T>A	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Tyr445Cys	rs1406115296	missense variant	-	NC_000008.11:g.71216718T>C	gnomAD
EYA1	Q99502	p.Thr447Ile	rs771783731	missense variant	-	NC_000008.11:g.71216712G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr447Ala	rs775097398	missense variant	-	NC_000008.11:g.71216713T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr448Cys	rs779406323	missense variant	-	NC_000008.11:g.71216709T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr448His	rs373851946	missense variant	-	NC_000008.11:g.71216710A>G	ESP
EYA1	Q99502	p.Asn451Ser	rs1471693639	missense variant	-	NC_000008.11:g.71216700T>C	gnomAD
EYA1	Q99502	p.Pro458Ala	rs771397353	missense variant	-	NC_000008.11:g.71215717G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala459Gly	rs1428992631	missense variant	-	NC_000008.11:g.71215713G>C	TOPMed,gnomAD
EYA1	Q99502	p.Glu462Lys	rs770129052	missense variant	-	NC_000008.11:g.71215705C>T	ExAC,gnomAD
EYA1	Q99502	p.Glu462Asp	rs997974243	missense variant	-	NC_000008.11:g.71215703T>A	TOPMed
EYA1	Q99502	p.Ala463Thr	rs1263352919	missense variant	-	NC_000008.11:g.71215702C>T	TOPMed,gnomAD
EYA1	Q99502	p.Ala463Val	rs1201441499	missense variant	-	NC_000008.11:g.71215701G>A	gnomAD
EYA1	Q99502	p.Leu467Phe	rs781247880	missense variant	-	NC_000008.11:g.71215688C>G	ExAC,gnomAD
EYA1	Q99502	p.Arg468Lys	rs755093166	missense variant	-	NC_000008.11:g.71215686C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg468Gly	RCV000150670	missense variant	-	NC_000008.11:g.71215687T>C	ClinVar
EYA1	Q99502	p.Arg468Gly	rs727503044	missense variant	-	NC_000008.11:g.71215687T>C	-
EYA1	Q99502	p.Ala469Thr	rs1366511376	missense variant	-	NC_000008.11:g.71215684C>T	gnomAD
EYA1	Q99502	p.Glu470Lys	rs780203392	missense variant	-	NC_000008.11:g.71215681C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile471Phe	rs1326367793	missense variant	-	NC_000008.11:g.71215678T>A	TOPMed
EYA1	Q99502	p.Thr475Asn	rs1337631504	missense variant	-	NC_000008.11:g.71215665G>T	gnomAD
EYA1	Q99502	p.Asp476Asn	RCV000221919	missense variant	-	NC_000008.11:g.71215663C>T	ClinVar
EYA1	Q99502	p.Asp476Asn	rs371408686	missense variant	-	NC_000008.11:g.71215663C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser477Cys	rs755991512	missense variant	-	NC_000008.11:g.71215659G>C	ExAC,gnomAD
EYA1	Q99502	p.Trp478Leu	rs1475718221	missense variant	-	NC_000008.11:g.71215656C>A	gnomAD
EYA1	Q99502	p.Leu479Phe	rs1320843367	missense variant	-	NC_000008.11:g.71215652C>G	TOPMed
EYA1	Q99502	p.Leu479Val	rs752745332	missense variant	-	NC_000008.11:g.71215654A>C	ExAC
EYA1	Q99502	p.Leu481Val	rs767104377	missense variant	-	NC_000008.11:g.71215648G>C	ExAC,gnomAD
EYA1	Q99502	p.Ala485Val	rs778970223	missense variant	-	NC_000008.11:g.71215635G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser487Pro	RCV000008402	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215630A>G	ClinVar
EYA1	Q99502	p.Ser487Leu	RCV000289230	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71215629G>A	ClinVar
EYA1	Q99502	p.Ser487Leu	rs139717960	missense variant	-	NC_000008.11:g.71215629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser487Leu	RCV000401819	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71215629G>A	ClinVar
EYA1	Q99502	p.Ser487Pro	rs121909200	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt,dbSNP
EYA1	Q99502	p.Ser487Pro	VAR_005203	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt
EYA1	Q99502	p.Ser487Pro	rs121909200	missense variant	-	NC_000008.11:g.71215630A>G	ExAC,gnomAD
EYA1	Q99502	p.His490Asn	rs748575456	missense variant	-	NC_000008.11:g.71215621G>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His490Tyr	rs748575456	missense variant	-	NC_000008.11:g.71215621G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser491Cys	rs769175446	missense variant	-	NC_000008.11:g.71215617G>C	ExAC,gnomAD
EYA1	Q99502	p.Arg492Trp	rs1226367549	missense variant	-	NC_000008.11:g.71215615G>A	gnomAD
EYA1	Q99502	p.Cys495Ser	RCV000681783	missense variant	-	NC_000008.11:g.71215501A>T	ClinVar
EYA1	Q99502	p.Asn497Asp	rs779243288	missense variant	-	NC_000008.11:g.71215495T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile498Val	rs374397914	missense variant	-	NC_000008.11:g.71215492T>C	ESP,ExAC,gnomAD
EYA1	Q99502	p.Leu499Ser	rs963923024	missense variant	-	NC_000008.11:g.71215488A>G	TOPMed
EYA1	Q99502	p.Thr501Ter	RCV000008407	frameshift	Branchiootic syndrome (BOS1)	NC_000008.11:g.71215479_71215485del	ClinVar
EYA1	Q99502	p.Leu505Arg	RCV000008403	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215470A>C	ClinVar
EYA1	Q99502	p.Leu505Arg	rs121909201	missense variant	-	NC_000008.11:g.71215470A>C	-
EYA1	Q99502	p.Leu505Arg	rs121909201	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt,dbSNP
EYA1	Q99502	p.Leu505Arg	VAR_005204	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt
EYA1	Q99502	p.Ala508Val	rs754901033	missense variant	-	NC_000008.11:g.71215461G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala510Thr	rs1180421427	missense variant	-	NC_000008.11:g.71215456C>T	TOPMed,gnomAD
EYA1	Q99502	p.Lys511Ter	rs1057520766	stop gained	-	NC_000008.11:g.71215453T>A	TOPMed
EYA1	Q99502	p.Lys511Glu	rs1057520766	missense variant	-	NC_000008.11:g.71215453T>C	TOPMed
EYA1	Q99502	p.Lys511Ter	RCV000420560	nonsense	-	NC_000008.11:g.71215453T>A	ClinVar
EYA1	Q99502	p.Phe521Leu	rs757978078	missense variant	-	NC_000008.11:g.71215423A>G	ExAC,gnomAD
EYA1	Q99502	p.Pro522Ser	rs1216806432	missense variant	-	NC_000008.11:g.71215420G>A	TOPMed,gnomAD
EYA1	Q99502	p.Ile523Thr	rs749926851	missense variant	-	NC_000008.11:g.71215416A>G	ExAC,gnomAD
EYA1	Q99502	p.Ile523Val	rs1286346149	missense variant	-	NC_000008.11:g.71215417T>C	gnomAD
EYA1	Q99502	p.Ile526Val	rs764905187	missense variant	-	NC_000008.11:g.71215408T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr527Asn	rs397517918	missense variant	-	NC_000008.11:g.71215405A>T	-
EYA1	Q99502	p.Tyr527Asn	RCV000041389	missense variant	Rare genetic deafness	NC_000008.11:g.71215405A>T	ClinVar
EYA1	Q99502	p.Tyr527Cys	VAR_064946	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Gly533Arg	RCV000681852	missense variant	-	NC_000008.11:g.71215387C>G	ClinVar
EYA1	Q99502	p.Glu535Lys	rs756891032	missense variant	-	NC_000008.11:g.71211251C>T	ExAC,gnomAD
EYA1	Q99502	p.Cys537Ser	rs1271698025	missense variant	-	NC_000008.11:g.71211244C>G	TOPMed
EYA1	Q99502	p.Cys537Arg	RCV000634145	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211245A>G	ClinVar
EYA1	Q99502	p.Cys537Arg	rs1554594182	missense variant	-	NC_000008.11:g.71211245A>G	-
EYA1	Q99502	p.Glu539Ter	RCV000477858	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71211239C>A	ClinVar
EYA1	Q99502	p.Glu539Ter	rs1060499603	stop gained	-	NC_000008.11:g.71211239C>A	-
EYA1	Q99502	p.Arg540Ser	rs979889982	missense variant	-	NC_000008.11:g.71211234T>A	TOPMed,gnomAD
EYA1	Q99502	p.Ile541Leu	rs753553594	missense variant	-	NC_000008.11:g.71211233T>G	ExAC,gnomAD
EYA1	Q99502	p.Ile541Val	rs753553594	missense variant	-	NC_000008.11:g.71211233T>C	ExAC,gnomAD
EYA1	Q99502	p.Ile542Asn	rs1410459961	missense variant	-	NC_000008.11:g.71211229A>T	gnomAD
EYA1	Q99502	p.Ile542Met	rs764411004	missense variant	-	NC_000008.11:g.71211228A>C	ExAC
EYA1	Q99502	p.Arg544Lys	rs756517701	missense variant	-	NC_000008.11:g.71211223C>T	ExAC,gnomAD
EYA1	Q99502	p.Phe545Ser	rs1392532916	missense variant	-	NC_000008.11:g.71211220A>G	gnomAD
EYA1	Q99502	p.Arg547Gly	RCV000008398	missense variant	Anterior segment anomalies and cataract	NC_000008.11:g.71211215T>C	ClinVar
EYA1	Q99502	p.Arg547Gly	rs121909197	missense variant	-	NC_000008.11:g.71211215T>C	-
EYA1	Q99502	p.Arg547Gly	rs121909197	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt,dbSNP
EYA1	Q99502	p.Arg547Gly	VAR_016868	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt
EYA1	Q99502	p.Val549Ala	rs753024835	missense variant	-	NC_000008.11:g.71211208A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile554Thr	rs1475511000	missense variant	-	NC_000008.11:g.71211193A>G	TOPMed
EYA1	Q99502	p.Ile554Leu	rs1422893057	missense variant	-	NC_000008.11:g.71211194T>A	TOPMed
EYA1	Q99502	p.Gly557Ala	rs766423472	missense variant	-	NC_000008.11:g.71211184C>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val558Ala	rs376013085	missense variant	-	NC_000008.11:g.71211181A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu561Gln	rs1457532578	missense variant	-	NC_000008.11:g.71211173C>G	TOPMed
EYA1	Q99502	p.Gln562Ter	RCV000536666	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211170G>A	ClinVar
EYA1	Q99502	p.Gln562Ter	rs1481254965	stop gained	-	NC_000008.11:g.71211170G>A	TOPMed,gnomAD
EYA1	Q99502	p.Gln562Glu	rs1481254965	missense variant	-	NC_000008.11:g.71211170G>C	TOPMed,gnomAD
EYA1	Q99502	p.Gln562Arg	rs916761910	missense variant	-	NC_000008.11:g.71211169T>C	TOPMed
EYA1	Q99502	p.Gly563Arg	rs1429589719	missense variant	-	NC_000008.11:g.71211167C>T	gnomAD
EYA1	Q99502	p.Gly563Glu	rs1180940999	missense variant	-	NC_000008.11:g.71211166C>T	gnomAD
EYA1	Q99502	p.Ala564Gly	rs549524090	missense variant	-	NC_000008.11:g.71211163G>C	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala564Glu	rs549524090	missense variant	-	NC_000008.11:g.71211163G>T	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala564Thr	rs1471350873	missense variant	-	NC_000008.11:g.71211164C>T	gnomAD
EYA1	Q99502	p.Lys565Glu	rs1309239827	missense variant	-	NC_000008.11:g.71211161T>C	gnomAD
EYA1	Q99502	p.Lys565Ile	rs1318210474	missense variant	-	NC_000008.11:g.71211160T>A	TOPMed
EYA1	Q99502	p.Lys565Ter	RCV000008396	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211156_71211159del	ClinVar
EYA1	Q99502	p.Lys566Thr	rs143798228	missense variant	-	NC_000008.11:g.71211157T>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Lys566Ter	RCV000041390	frameshift	Rare genetic deafness	NC_000008.11:g.71211156_71211157insA	ClinVar
EYA1	Q99502	p.Lys566Arg	rs143798228	missense variant	-	NC_000008.11:g.71211157T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His567Gln	rs763080811	missense variant	-	NC_000008.11:g.71199418G>T	ExAC,gnomAD
EYA1	Q99502	p.Ala568Thr	rs773461292	missense variant	-	NC_000008.11:g.71199417C>T	ExAC,gnomAD
EYA1	Q99502	p.Ala568Val	rs765493132	missense variant	-	NC_000008.11:g.71199416G>A	ExAC,gnomAD
EYA1	Q99502	p.Met569Thr	VAR_064947	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Trp572Ter	RCV000486264	frameshift	-	NC_000008.11:g.71199405dup	ClinVar
EYA1	Q99502	p.Arg573Gly	rs775343638	missense variant	-	NC_000008.11:g.71199402T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile574Thr	rs771831582	missense variant	-	NC_000008.11:g.71199398A>G	ExAC,gnomAD
EYA1	Q99502	p.Ile574Val	rs1048727343	missense variant	-	NC_000008.11:g.71199399T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser575Pro	rs745786446	missense variant	-	NC_000008.11:g.71199396A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser575Cys	rs774201991	missense variant	-	NC_000008.11:g.71199395G>C	ExAC,gnomAD
EYA1	Q99502	p.Ser578Leu	rs900450966	missense variant	-	NC_000008.11:g.71199386G>A	gnomAD
EYA1	Q99502	p.Leu583Pro	RCV000763604	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71199371A>G	ClinVar
EYA1	Q99502	p.Leu583Pro	RCV000041392	missense variant	Rare genetic deafness	NC_000008.11:g.71199371A>G	ClinVar
EYA1	Q99502	p.Leu583Pro	rs397517920	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt,dbSNP
EYA1	Q99502	p.Leu583Pro	VAR_016869	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt
EYA1	Q99502	p.Leu583Pro	rs397517920	missense variant	-	NC_000008.11:g.71199371A>G	-
EYA1	Q99502	p.Asp5Ala	rs767080375	missense variant	-	NC_000008.11:g.71354892T>G	ExAC
EYA1	Q99502	p.Ser8Asn	rs1393157586	missense variant	-	NC_000008.11:g.71354883C>T	TOPMed,gnomAD
EYA1	Q99502	p.Pro9Leu	RCV000762522	missense variant	-	NC_000008.11:g.71354880G>A	ClinVar
EYA1	Q99502	p.Pro9Arg	rs766713665	missense variant	-	NC_000008.11:g.71354880G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro9Leu	rs766713665	missense variant	-	NC_000008.11:g.71354880G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His10Arg	rs1052858465	missense variant	-	NC_000008.11:g.71354877T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser11Asn	rs1164012590	missense variant	-	NC_000008.11:g.71354874C>T	gnomAD
EYA1	Q99502	p.Arg12Pro	rs74720958	missense variant	-	NC_000008.11:g.71354871C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg12Cys	rs530921368	missense variant	-	NC_000008.11:g.71354872G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg12His	rs74720958	missense variant	-	NC_000008.11:g.71354871C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu13Gln	rs768783796	missense variant	-	NC_000008.11:g.71354868A>T	ExAC,gnomAD
EYA1	Q99502	p.Leu13Val	rs776514587	missense variant	-	NC_000008.11:g.71354869G>C	ExAC,gnomAD
EYA1	Q99502	p.Ser17Asn	rs780483424	missense variant	-	NC_000008.11:g.71354856C>T	ExAC,gnomAD
EYA1	Q99502	p.Ser17Gly	rs747231434	missense variant	-	NC_000008.11:g.71354857T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	RCV000406094	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000041394	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000711621	missense variant	-	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Ala	RCV000310360	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71354848G>C	ClinVar
EYA1	Q99502	p.Pro20Thr	rs1445404	missense variant	-	NC_000008.11:g.71354848G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	rs1445404	missense variant	-	NC_000008.11:g.71354848G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro20Ala	rs1445404	missense variant	-	NC_000008.11:g.71354848G>C	UniProt,dbSNP
EYA1	Q99502	p.Pro20Ala	VAR_024439	missense variant	-	NC_000008.11:g.71354848G>C	UniProt
EYA1	Q99502	p.Gly22Asp	RCV000150678	missense variant	-	NC_000008.11:g.71354841C>T	ClinVar
EYA1	Q99502	p.Gly22Asp	rs727503049	missense variant	-	NC_000008.11:g.71354841C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu25Ile	rs752696368	missense variant	-	NC_000008.11:g.71354833G>T	ExAC,gnomAD
EYA1	Q99502	p.Gly26Ser	rs199664417	missense variant	-	NC_000008.11:g.71354830C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly26Cys	rs199664417	missense variant	-	NC_000008.11:g.71354830C>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn27Thr	rs751187504	missense variant	-	NC_000008.11:g.71354826T>G	ExAC,gnomAD
EYA1	Q99502	p.Ser28Cys	rs558089479	missense variant	-	NC_000008.11:g.71354823G>C	ExAC,gnomAD
EYA1	Q99502	p.Ile30Val	RCV000607103	missense variant	-	NC_000008.11:g.71354818T>C	ClinVar
EYA1	Q99502	p.Ile30Val	rs1554565600	missense variant	-	NC_000008.11:g.71354818T>C	-
EYA1	Q99502	p.Ile30Met	rs1486534014	missense variant	-	NC_000008.11:g.71354816T>C	gnomAD
EYA1	Q99502	p.Thr36Ile	rs727503048	missense variant	-	NC_000008.11:g.71354799G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr36Ile	RCV000150677	missense variant	-	NC_000008.11:g.71354799G>A	ClinVar
EYA1	Q99502	p.Asn38Ser	rs750274491	missense variant	-	NC_000008.11:g.71354793T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Ile	rs750274491	missense variant	-	NC_000008.11:g.71354793T>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn38Asp	rs765646278	missense variant	-	NC_000008.11:g.71354794T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly39Asp	rs267601985	missense variant	-	NC_000008.11:g.71354790C>T	-
EYA1	Q99502	p.Thr40Ala	rs1196497532	missense variant	-	NC_000008.11:g.71354788T>C	TOPMed,gnomAD
EYA1	Q99502	p.Glu41Lys	rs561111097	missense variant	-	NC_000008.11:g.71354785C>T	UniProt,dbSNP
EYA1	Q99502	p.Glu41Lys	VAR_070033	missense variant	-	NC_000008.11:g.71354785C>T	UniProt
EYA1	Q99502	p.Glu41Lys	rs561111097	missense variant	-	NC_000008.11:g.71354785C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu41Gln	RCV000234887	missense variant	Renal hypoplasia	NC_000008.11:g.71354785C>G	ClinVar
EYA1	Q99502	p.Glu41Gln	rs561111097	missense variant	-	NC_000008.11:g.71354785C>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr44Ile	rs774402195	missense variant	-	NC_000008.11:g.71334168G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu45Lys	rs1373021054	missense variant	-	NC_000008.11:g.71334166C>T	gnomAD
EYA1	Q99502	p.Met47Thr	rs1323652552	missense variant	-	NC_000008.11:g.71334159A>G	gnomAD
EYA1	Q99502	p.Ser49Asn	rs958156575	missense variant	-	NC_000008.11:g.71334153C>T	TOPMed
EYA1	Q99502	p.Thr52Ile	rs200206302	missense variant	-	NC_000008.11:g.71334144G>A	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala53Val	rs776352141	missense variant	-	NC_000008.11:g.71334141G>A	ExAC,gnomAD
EYA1	Q99502	p.Thr55Ala	rs139194909	missense variant	-	NC_000008.11:g.71334136T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr55Met	RCV000416584	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71334135G>A	ClinVar
EYA1	Q99502	p.Thr55Met	rs201434219	missense variant	-	NC_000008.11:g.71334135G>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr56Ala	rs1248918883	missense variant	-	NC_000008.11:g.71334133T>C	gnomAD
EYA1	Q99502	p.Thr56Ile	rs1199697219	missense variant	-	NC_000008.11:g.71334132G>A	gnomAD
EYA1	Q99502	p.Asp58Glu	rs370509332	missense variant	-	NC_000008.11:g.71334125G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp58Asn	rs756885537	missense variant	-	NC_000008.11:g.71334127C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly59Arg	rs146216506	missense variant	-	NC_000008.11:g.71334124C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser65Leu	rs1389200174	missense variant	-	NC_000008.11:g.71334105G>A	TOPMed
EYA1	Q99502	p.Gly66Cys	RCV000342060	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71334103C>A	ClinVar
EYA1	Q99502	p.Gly66Cys	RCV000303649	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71334103C>A	ClinVar
EYA1	Q99502	p.Gly66Cys	rs886063089	missense variant	-	NC_000008.11:g.71334103C>A	TOPMed,gnomAD
EYA1	Q99502	p.Gly66Val	rs149289196	missense variant	-	NC_000008.11:g.71334102C>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala68Pro	rs1169615269	missense variant	-	NC_000008.11:g.71334097C>G	TOPMed
EYA1	Q99502	p.Ala68Ser	rs1169615269	missense variant	-	NC_000008.11:g.71334097C>A	TOPMed
EYA1	Q99502	p.Ile69Thr	rs371059560	missense variant	-	NC_000008.11:g.71322265A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile69Val	rs1032162749	missense variant	-	NC_000008.11:g.71322266T>C	gnomAD
EYA1	Q99502	p.Ile69Leu	rs1032162749	missense variant	-	NC_000008.11:g.71322266T>G	gnomAD
EYA1	Q99502	p.Ser71Asn	rs1462564075	missense variant	-	NC_000008.11:g.71322259C>T	TOPMed
EYA1	Q99502	p.Ser72Gly	rs1275882788	missense variant	-	NC_000008.11:g.71322257T>C	gnomAD
EYA1	Q99502	p.Ser73Arg	rs1201735320	missense variant	-	NC_000008.11:g.71322254T>G	TOPMed
EYA1	Q99502	p.Ser73Asn	rs1429110987	missense variant	-	NC_000008.11:g.71322253C>T	TOPMed,gnomAD
EYA1	Q99502	p.Arg77Ter	RCV000544733	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71322242G>A	ClinVar
EYA1	Q99502	p.Arg77Gln	rs770356158	missense variant	-	NC_000008.11:g.71322241C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg77Ter	rs200164773	stop gained	-	NC_000008.11:g.71322242G>A	TOPMed,gnomAD
EYA1	Q99502	p.Pro78Arg	rs1414412230	missense variant	-	NC_000008.11:g.71322238G>C	gnomAD
EYA1	Q99502	p.Thr79Ala	RCV000522348	missense variant	-	NC_000008.11:g.71322236T>C	ClinVar
EYA1	Q99502	p.Thr79Ala	rs1554550645	missense variant	-	NC_000008.11:g.71322236T>C	-
EYA1	Q99502	p.Gln81Ter	RCV000600507	nonsense	Rare genetic deafness	NC_000008.11:g.71322230G>A	ClinVar
EYA1	Q99502	p.Gln81Ter	rs1554550637	stop gained	-	NC_000008.11:g.71322230G>A	-
EYA1	Q99502	p.Phe82Tyr	rs777629266	missense variant	-	NC_000008.11:g.71322226A>T	ExAC,gnomAD
EYA1	Q99502	p.Phe82Ser	rs777629266	missense variant	-	NC_000008.11:g.71322226A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser83Cys	rs748482012	missense variant	-	NC_000008.11:g.71322223G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser83Pro	rs1191745624	missense variant	-	NC_000008.11:g.71322224A>G	gnomAD
EYA1	Q99502	p.Ser83Phe	rs748482012	missense variant	-	NC_000008.11:g.71322223G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro85Ser	rs1237828849	missense variant	-	NC_000008.11:g.71322218G>A	TOPMed,gnomAD
EYA1	Q99502	p.Gln86Arg	rs781429176	missense variant	-	NC_000008.11:g.71322214T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile87Thr	rs755452077	missense variant	-	NC_000008.11:g.71322211A>G	ExAC,gnomAD
EYA1	Q99502	p.Tyr88His	rs534707284	missense variant	-	NC_000008.11:g.71322209A>G	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Pro89Leu	rs368351103	missense variant	-	NC_000008.11:g.71322205G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro89Ser	rs1255833754	missense variant	-	NC_000008.11:g.71322206G>A	gnomAD
EYA1	Q99502	p.Ser90Phe	rs1379371014	missense variant	-	NC_000008.11:g.71322202G>A	gnomAD
EYA1	Q99502	p.Asn91Asp	rs750621028	missense variant	-	NC_000008.11:g.71322200T>C	ExAC,gnomAD
EYA1	Q99502	p.ProTyr93ProCysTerTyr	rs1438639316	stop gained	-	NC_000008.11:g.71321873_71321874insTAACAT	gnomAD
EYA1	Q99502	p.Pro95Leu	rs759310166	missense variant	-	NC_000008.11:g.71321868G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro95Gln	rs759310166	missense variant	-	NC_000008.11:g.71321868G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro95Ser	VAR_064942	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.His96Arg	rs377434964	missense variant	-	NC_000008.11:g.71321865T>C	ESP,ExAC,gnomAD
EYA1	Q99502	p.Ile97Val	rs1422583050	missense variant	-	NC_000008.11:g.71321863T>C	TOPMed,gnomAD
EYA1	Q99502	p.Leu98Phe	rs766184209	missense variant	-	NC_000008.11:g.71321860G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro99Arg	rs763005068	missense variant	-	NC_000008.11:g.71321856G>C	ExAC,gnomAD
EYA1	Q99502	p.Pro99Leu	rs763005068	missense variant	-	NC_000008.11:g.71321856G>A	ExAC,gnomAD
EYA1	Q99502	p.Thr100Asn	RCV000156019	missense variant	-	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	RCV000281370	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	RCV000371539	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321853G>T	ClinVar
EYA1	Q99502	p.Thr100Asn	rs373501480	missense variant	-	NC_000008.11:g.71321853G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro101Ala	rs138603867	missense variant	-	NC_000008.11:g.71321851G>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser103Ala	rs1488509440	missense variant	-	NC_000008.11:g.71321845A>C	gnomAD
EYA1	Q99502	p.Ala107Thr	rs1413761721	missense variant	-	NC_000008.11:g.71321833C>T	TOPMed,gnomAD
EYA1	Q99502	p.Tyr109Cys	rs1489979978	missense variant	-	NC_000008.11:g.71321826T>C	gnomAD
EYA1	Q99502	p.Tyr109His	RCV000294529	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Tyr109His	RCV000335524	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Tyr109His	rs141779040	missense variant	-	NC_000008.11:g.71321827A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr109His	RCV000729909	missense variant	-	NC_000008.11:g.71321827A>G	ClinVar
EYA1	Q99502	p.Gly110Glu	rs769041202	missense variant	-	NC_000008.11:g.71321823C>T	ExAC,gnomAD
EYA1	Q99502	p.Gln113Arg	rs184596522	missense variant	-	NC_000008.11:g.71321814T>C	1000Genomes
EYA1	Q99502	p.Gln113Lys	rs747371845	missense variant	-	NC_000008.11:g.71321815G>T	ExAC,gnomAD
EYA1	Q99502	p.Phe114Leu	rs772521196	missense variant	-	NC_000008.11:g.71321812A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Phe114Tyr	rs746388153	missense variant	-	NC_000008.11:g.71321811A>T	ExAC,gnomAD
EYA1	Q99502	p.Thr115Asn	rs1368387497	missense variant	-	NC_000008.11:g.71321808G>T	gnomAD
EYA1	Q99502	p.Thr115Ile	rs1368387497	missense variant	-	NC_000008.11:g.71321808G>A	gnomAD
EYA1	Q99502	p.Gly117Glu	rs1293217360	missense variant	-	NC_000008.11:g.71321802C>T	gnomAD
EYA1	Q99502	p.Met118Ile	rs1362617814	missense variant	-	NC_000008.11:g.71321798C>T	TOPMed,gnomAD
EYA1	Q99502	p.Met118Ile	rs1362617814	missense variant	-	NC_000008.11:g.71321798C>A	TOPMed,gnomAD
EYA1	Q99502	p.Met118Leu	rs778898100	missense variant	-	NC_000008.11:g.71321800T>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Met118Val	rs778898100	missense variant	-	NC_000008.11:g.71321800T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala121Thr	rs757399419	missense variant	-	NC_000008.11:g.71321791C>T	ExAC,gnomAD
EYA1	Q99502	p.Ala121Pro	rs757399419	missense variant	-	NC_000008.11:g.71321791C>G	ExAC,gnomAD
EYA1	Q99502	p.Ala121Asp	rs754082186	missense variant	-	NC_000008.11:g.71321790G>T	ExAC,gnomAD
EYA1	Q99502	p.Thr122Arg	rs971427687	missense variant	-	NC_000008.11:g.71321787G>C	gnomAD
EYA1	Q99502	p.Thr126Lys	rs375521116	missense variant	-	NC_000008.11:g.71321775G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr126Met	rs375521116	missense variant	-	NC_000008.11:g.71321775G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro128Leu	rs1478602440	missense variant	-	NC_000008.11:g.71321769G>A	gnomAD
EYA1	Q99502	p.Gln129His	rs1315972086	missense variant	-	NC_000008.11:g.71321765C>G	TOPMed
EYA1	Q99502	p.Gln132Ter	RCV000215585	frameshift	Rare genetic deafness	NC_000008.11:g.71321748_71321758del	ClinVar
EYA1	Q99502	p.Pro133Leu	rs138234228	missense variant	-	NC_000008.11:g.71321754G>A	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Gly135Ser	RCV000825655	missense variant	-	NC_000008.11:g.71321749C>T	ClinVar
EYA1	Q99502	p.Gly135Ser	RCV000490264	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71321749C>T	ClinVar
EYA1	Q99502	p.Gly135Asp	rs776314304	missense variant	-	NC_000008.11:g.71321748C>T	ExAC,gnomAD
EYA1	Q99502	p.Gly135Ser	rs747476629	missense variant	-	NC_000008.11:g.71321749C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser138Leu	rs1245501738	missense variant	-	NC_000008.11:g.71321739G>A	TOPMed
EYA1	Q99502	p.Tyr139His	RCV000850159	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71321737A>G	ClinVar
EYA1	Q99502	p.Tyr139His	rs763614581	missense variant	-	NC_000008.11:g.71321737A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr139Asn	rs763614581	missense variant	-	NC_000008.11:g.71321737A>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly140Ser	VAR_064943	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Leu142Phe	rs749811991	missense variant	-	NC_000008.11:g.71317682C>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Trp143Ter	RCV000155629	nonsense	Rare genetic deafness	NC_000008.11:g.71317680C>T	ClinVar
EYA1	Q99502	p.Trp143Ter	rs727504494	stop gained	-	NC_000008.11:g.71317680C>T	ExAC,gnomAD
EYA1	Q99502	p.Trp143Leu	rs727504494	missense variant	-	NC_000008.11:g.71317680C>A	ExAC,gnomAD
EYA1	Q99502	p.Trp143Arg	rs773097343	missense variant	-	NC_000008.11:g.71317681A>G	ExAC,gnomAD
EYA1	Q99502	p.Ala144Thr	rs1460464467	missense variant	-	NC_000008.11:g.71317678C>T	TOPMed
EYA1	Q99502	p.Gly145Asp	rs1182285380	missense variant	-	NC_000008.11:g.71317674C>T	gnomAD
EYA1	Q99502	p.Ile146Val	rs202188500	missense variant	-	NC_000008.11:g.71317672T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser155Ala	rs13255076	missense variant	-	NC_000008.11:g.71317645A>C	ExAC,gnomAD
EYA1	Q99502	p.Ser155Thr	rs13255076	missense variant	-	NC_000008.11:g.71317645A>T	ExAC,gnomAD
EYA1	Q99502	p.Ser157Thr	rs778872780	missense variant	-	NC_000008.11:g.71317639A>T	ExAC,gnomAD
EYA1	Q99502	p.Pro158Leu	rs764732053	missense variant	-	NC_000008.11:g.71317635G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro158Ser	rs142344434	missense variant	-	NC_000008.11:g.71317636G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro158His	rs764732053	missense variant	-	NC_000008.11:g.71317635G>T	ExAC,gnomAD
EYA1	Q99502	p.Gln160Glu	rs763509251	missense variant	-	NC_000008.11:g.71317630G>C	ExAC,gnomAD
EYA1	Q99502	p.Gly162Glu	rs1411069397	missense variant	-	NC_000008.11:g.71317623C>T	gnomAD
EYA1	Q99502	p.Leu164Pro	rs1007684729	missense variant	-	NC_000008.11:g.71317617A>G	TOPMed,gnomAD
EYA1	Q99502	p.Leu164Pro	RCV000609247	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
EYA1	Q99502	p.Leu164Pro	RCV000512945	missense variant	-	NC_000008.11:g.71317617A>G	ClinVar
EYA1	Q99502	p.Ser165Ile	rs1377460458	missense variant	-	NC_000008.11:g.71317614C>A	gnomAD
EYA1	Q99502	p.Tyr166Cys	rs138353102	missense variant	-	NC_000008.11:g.71317611T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Phe170Ser	rs147066127	missense variant	-	NC_000008.11:g.71317599A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser171Asn	rs759221073	missense variant	-	NC_000008.11:g.71317596C>T	ExAC,gnomAD
EYA1	Q99502	p.Thr172Ile	rs751860428	missense variant	-	NC_000008.11:g.71317593G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro173Leu	rs766767570	missense variant	-	NC_000008.11:g.71317590G>A	ExAC,gnomAD
EYA1	Q99502	p.Pro175Arg	rs201908026	missense variant	-	NC_000008.11:g.71317584G>C	1000Genomes,gnomAD
EYA1	Q99502	p.Gln177His	rs1385538076	missense variant	-	NC_000008.11:g.71317577C>A	TOPMed
EYA1	Q99502	p.Ala178Ter	RCV000634147	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71317577del	ClinVar
EYA1	Q99502	p.Ala178Val	rs868367252	missense variant	-	NC_000008.11:g.71317575G>A	gnomAD
EYA1	Q99502	p.Pro179Ser	rs368131485	missense variant	-	NC_000008.11:g.71317573G>A	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Pro179Leu	rs1262764388	missense variant	-	NC_000008.11:g.71317572G>A	TOPMed
EYA1	Q99502	p.Ser181Gly	rs1022352668	missense variant	-	NC_000008.11:g.71317567T>C	TOPMed
EYA1	Q99502	p.Tyr182His	rs200063586	missense variant	-	NC_000008.11:g.71317564A>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr182Phe	rs761991031	missense variant	-	NC_000008.11:g.71317563T>A	ExAC,gnomAD
EYA1	Q99502	p.Gln183Ter	rs1289325016	stop gained	-	NC_000008.11:g.71317561G>A	gnomAD
EYA1	Q99502	p.Gln183Arg	RCV000179762	missense variant	-	NC_000008.11:g.71317560T>C	ClinVar
EYA1	Q99502	p.Gln183Arg	rs794727845	missense variant	-	NC_000008.11:g.71317560T>C	gnomAD
EYA1	Q99502	p.Met184Thr	rs1241997853	missense variant	-	NC_000008.11:g.71317557A>G	gnomAD
EYA1	Q99502	p.Thr191Pro	rs1418597577	missense variant	-	NC_000008.11:g.71299706T>G	TOPMed
EYA1	Q99502	p.Ser193Leu	rs377222777	missense variant	-	NC_000008.11:g.71299699G>A	ESP,TOPMed
EYA1	Q99502	p.Ile195Met	rs780672889	missense variant	-	NC_000008.11:g.71299692T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr197Ile	rs1173256027	missense variant	-	NC_000008.11:g.71299687G>A	gnomAD
EYA1	Q99502	p.Asn200Lys	rs1320967168	missense variant	-	NC_000008.11:g.71299677A>T	gnomAD
EYA1	Q99502	p.Ser201Ter	RCV000733277	nonsense	-	NC_000008.11:g.71299675G>C	ClinVar
EYA1	Q99502	p.Ser201Ala	rs751187579	missense variant	-	NC_000008.11:g.71299676A>C	ExAC,gnomAD
EYA1	Q99502	p.Leu202Ter	RCV000627570	frameshift	-	NC_000008.11:g.71299672del	ClinVar
EYA1	Q99502	p.Leu202Phe	rs1196110281	missense variant	-	NC_000008.11:g.71299673G>A	gnomAD
EYA1	Q99502	p.Thr203Ala	rs758016427	missense variant	-	NC_000008.11:g.71299670T>C	ExAC,gnomAD
EYA1	Q99502	p.Thr203Ile	rs1057241340	missense variant	-	NC_000008.11:g.71299669G>A	gnomAD
EYA1	Q99502	p.Ser206Phe	rs1444096031	missense variant	-	NC_000008.11:g.71299660G>A	TOPMed,gnomAD
EYA1	Q99502	p.Ser210Ile	rs1202544664	missense variant	-	NC_000008.11:g.71299648C>A	gnomAD
EYA1	Q99502	p.Ser211Leu	rs757772659	missense variant	-	NC_000008.11:g.71299645G>A	ExAC,gnomAD
EYA1	Q99502	p.Asp214Asn	RCV000681904	missense variant	-	NC_000008.11:g.71299233C>T	ClinVar
EYA1	Q99502	p.Pro216Arg	rs200923204	missense variant	-	NC_000008.11:g.71299226G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro216Leu	rs200923204	missense variant	-	NC_000008.11:g.71299226G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser217Phe	rs1162614873	missense variant	-	NC_000008.11:g.71299223G>A	gnomAD
EYA1	Q99502	p.Pro219Leu	rs756722124	missense variant	-	NC_000008.11:g.71299217G>A	ExAC,gnomAD
EYA1	Q99502	p.Gln223Arg	rs1382039361	missense variant	-	NC_000008.11:g.71299205T>C	gnomAD
EYA1	Q99502	p.Gly224Val	RCV000490441	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299202C>A	ClinVar
EYA1	Q99502	p.Gly224Asp	rs201509408	missense variant	-	NC_000008.11:g.71299202C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly224Val	rs201509408	missense variant	-	NC_000008.11:g.71299202C>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala227Thr	rs202168841	missense variant	-	NC_000008.11:g.71299194C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala227Pro	rs202168841	missense variant	-	NC_000008.11:g.71299194C>G	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gln228Ter	RCV000687593	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71299191G>A	ClinVar
EYA1	Q99502	p.Tyr230Cys	rs1213738374	missense variant	-	NC_000008.11:g.71299184T>C	TOPMed
EYA1	Q99502	p.Ser233Leu	rs1485766576	missense variant	-	NC_000008.11:g.71299175G>A	TOPMed
EYA1	Q99502	p.Pro234Leu	rs761632944	missense variant	-	NC_000008.11:g.71299172G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Tyr235Phe	rs969843445	missense variant	-	NC_000008.11:g.71299169T>A	TOPMed
EYA1	Q99502	p.His238Arg	rs1344244290	missense variant	-	NC_000008.11:g.71299160T>C	gnomAD
EYA1	Q99502	p.Tyr239Phe	rs746932579	missense variant	-	NC_000008.11:g.71299157T>A	ExAC,gnomAD
EYA1	Q99502	p.Tyr239Cys	rs746932579	missense variant	-	NC_000008.11:g.71299157T>C	ExAC,gnomAD
EYA1	Q99502	p.Met240Val	rs771549701	missense variant	-	NC_000008.11:g.71299155T>C	ExAC,gnomAD
EYA1	Q99502	p.Ser242Gly	rs191838840	missense variant	-	NC_000008.11:g.71299149T>C	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser243Ile	rs374722758	missense variant	-	NC_000008.11:g.71299145C>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Asn244Asp	rs1278065086	missense variant	-	NC_000008.11:g.71299143T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser246Thr	rs1302329264	missense variant	-	NC_000008.11:g.71299136C>G	gnomAD
EYA1	Q99502	p.Thr248Met	RCV000264927	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71299130G>A	ClinVar
EYA1	Q99502	p.Thr248Met	RCV000359341	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71299130G>A	ClinVar
EYA1	Q99502	p.Thr248Ala	rs1296125164	missense variant	-	NC_000008.11:g.71299131T>C	TOPMed,gnomAD
EYA1	Q99502	p.Thr248Met	rs186736708	missense variant	-	NC_000008.11:g.71299130G>A	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr252Pro	rs1418060801	missense variant	-	NC_000008.11:g.71299119T>G	gnomAD
EYA1	Q99502	p.Thr252Ile	rs376238434	missense variant	-	NC_000008.11:g.71299118G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asn253Ser	RCV000520903	missense variant	-	NC_000008.11:g.71299115T>C	ClinVar
EYA1	Q99502	p.Asn253Ile	rs960785529	missense variant	-	NC_000008.11:g.71299115T>A	TOPMed,gnomAD
EYA1	Q99502	p.Asn253Ser	rs960785529	missense variant	-	NC_000008.11:g.71299115T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ala254Asp	rs1281786069	missense variant	-	NC_000008.11:g.71299112G>T	TOPMed
EYA1	Q99502	p.Gln257His	rs149833469	missense variant	-	NC_000008.11:g.71299102C>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu260Val	rs751772774	missense variant	-	NC_000008.11:g.71299094T>A	ExAC,gnomAD
EYA1	Q99502	p.Pro261Leu	RCV000607831	missense variant	-	NC_000008.11:g.71299091G>A	ClinVar
EYA1	Q99502	p.Pro261Thr	rs766545848	missense variant	-	NC_000008.11:g.71299092G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro261Gln	rs77825059	missense variant	-	NC_000008.11:g.71299091G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro261Leu	rs77825059	missense variant	-	NC_000008.11:g.71299091G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly264Val	rs775347972	missense variant	-	NC_000008.11:g.71299082C>A	ExAC,gnomAD
EYA1	Q99502	p.Ser267Gly	rs771589229	missense variant	-	NC_000008.11:g.71299074T>C	ExAC,gnomAD
EYA1	Q99502	p.Ser267Arg	rs1346438963	missense variant	-	NC_000008.11:g.71299072G>C	gnomAD
EYA1	Q99502	p.Ala269Glu	rs368165352	missense variant	-	NC_000008.11:g.71299067G>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val270Ala	rs1342127067	missense variant	-	NC_000008.11:g.71299064A>G	TOPMed,gnomAD
EYA1	Q99502	p.Thr271Ile	rs774032992	missense variant	-	NC_000008.11:g.71299061G>A	ExAC,gnomAD
EYA1	Q99502	p.Asp272Gly	rs748966524	missense variant	-	NC_000008.11:g.71299058T>C	ExAC,gnomAD
EYA1	Q99502	p.Asp272Tyr	rs1343323235	missense variant	-	NC_000008.11:g.71299059C>A	gnomAD
EYA1	Q99502	p.Asp272Glu	rs1441640157	missense variant	-	NC_000008.11:g.71299057A>C	TOPMed
EYA1	Q99502	p.Pro273Ser	rs778220979	missense variant	-	NC_000008.11:g.71299056G>A	ExAC
EYA1	Q99502	p.Thr274Lys	rs900664550	missense variant	-	NC_000008.11:g.71299052G>T	TOPMed
EYA1	Q99502	p.Tyr277Cys	rs374772533	missense variant	-	NC_000008.11:g.71271894T>C	ESP,TOPMed,gnomAD
EYA1	Q99502	p.Ser278Arg	rs1185950054	missense variant	-	NC_000008.11:g.71271890G>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser282Ile	rs1468448384	missense variant	-	NC_000008.11:g.71271879C>A	TOPMed
EYA1	Q99502	p.Pro283Leu	rs979855303	missense variant	-	NC_000008.11:g.71271876G>A	TOPMed,gnomAD
EYA1	Q99502	p.Thr285Ala	rs781635264	missense variant	-	NC_000008.11:g.71271871T>C	ExAC,gnomAD
EYA1	Q99502	p.Thr285Ser	rs781635264	missense variant	-	NC_000008.11:g.71271871T>A	ExAC,gnomAD
EYA1	Q99502	p.Pro286Leu	rs374615482	missense variant	-	NC_000008.11:g.71271867G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Pro286Ser	rs1252089449	missense variant	-	NC_000008.11:g.71271868G>A	gnomAD
EYA1	Q99502	p.Ile287Thr	rs1305551163	missense variant	-	NC_000008.11:g.71271864A>G	gnomAD
EYA1	Q99502	p.Ile287Phe	rs747518329	missense variant	-	NC_000008.11:g.71271865T>A	ExAC
EYA1	Q99502	p.Lys288Thr	rs1314840587	missense variant	-	NC_000008.11:g.71271861T>G	gnomAD
EYA1	Q99502	p.Lys288Asn	rs1246643625	missense variant	-	NC_000008.11:g.71271860T>G	gnomAD
EYA1	Q99502	p.Asp289Val	rs1029683507	missense variant	-	NC_000008.11:g.71271858T>A	TOPMed
EYA1	Q99502	p.Asp289Tyr	RCV000595354	missense variant	-	NC_000008.11:g.71271859C>A	ClinVar
EYA1	Q99502	p.Asp289Tyr	rs201504674	missense variant	-	NC_000008.11:g.71271859C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Asp291Asn	rs779045401	missense variant	-	NC_000008.11:g.71271853C>T	ExAC,gnomAD
EYA1	Q99502	p.Asp291His	rs779045401	missense variant	-	NC_000008.11:g.71271853C>G	ExAC,gnomAD
EYA1	Q99502	p.Asp291Gly	rs1405459798	missense variant	-	NC_000008.11:g.71271852T>C	TOPMed
EYA1	Q99502	p.Asp293Val	rs1410593568	missense variant	-	NC_000008.11:g.71271846T>A	TOPMed
EYA1	Q99502	p.Arg294Gln	rs757532396	missense variant	-	NC_000008.11:g.71271843C>T	ExAC,gnomAD
EYA1	Q99502	p.Leu295Ser	rs146687496	missense variant	-	NC_000008.11:g.71271840A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg296Cys	rs142104253	missense variant	-	NC_000008.11:g.71271838G>A	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg296His	rs181191349	missense variant	-	NC_000008.11:g.71271837C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg297Gln	RCV000326184	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271834C>T	ClinVar
EYA1	Q99502	p.Arg297Ter	RCV000492842	nonsense	-	NC_000008.11:g.71271835G>A	ClinVar
EYA1	Q99502	p.Arg297Ter	RCV000695248	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271835G>A	ClinVar
EYA1	Q99502	p.Arg297Ter	rs1131691667	stop gained	-	NC_000008.11:g.71271835G>A	-
EYA1	Q99502	p.Arg297Gln	rs148647933	missense variant	-	NC_000008.11:g.71271834C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg297Gln	RCV000380843	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271834C>T	ClinVar
EYA1	Q99502	p.Gly298Asp	rs1385104528	missense variant	-	NC_000008.11:g.71271831C>T	TOPMed,gnomAD
EYA1	Q99502	p.Gly298Ser	rs765961794	missense variant	-	NC_000008.11:g.71271832C>T	ExAC,gnomAD
EYA1	Q99502	p.Ser299Ter	RCV000219278	nonsense	Rare genetic deafness	NC_000008.11:g.71271828G>T	ClinVar
EYA1	Q99502	p.Ser299Ter	rs876657691	stop gained	-	NC_000008.11:g.71271828G>T	-
EYA1	Q99502	p.Lys302Gln	rs887536064	missense variant	-	NC_000008.11:g.71271820T>G	TOPMed
EYA1	Q99502	p.Lys302Arg	rs1305721914	missense variant	-	NC_000008.11:g.71271819T>C	gnomAD
EYA1	Q99502	p.Arg304Cys	rs772877702	missense variant	-	NC_000008.11:g.71271814G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg304His	rs1036380891	missense variant	-	NC_000008.11:g.71271813C>T	gnomAD
EYA1	Q99502	p.Arg306Trp	rs761539105	missense variant	-	NC_000008.11:g.71271808G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg306Gln	rs373250373	missense variant	-	NC_000008.11:g.71271807C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly307Val	rs1435743529	missense variant	-	NC_000008.11:g.71271804C>A	TOPMed
EYA1	Q99502	p.Gly307Asp	rs1435743529	missense variant	-	NC_000008.11:g.71271804C>T	TOPMed
EYA1	Q99502	p.Arg308Gln	RCV000266374	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71271801C>T	ClinVar
EYA1	Q99502	p.Arg308Gln	RCV000379541	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71271801C>T	ClinVar
EYA1	Q99502	p.Arg308Ter	RCV000008391	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71271802G>A	ClinVar
EYA1	Q99502	p.Arg308Ter	rs121909195	stop gained	-	NC_000008.11:g.71271802G>A	ExAC,gnomAD
EYA1	Q99502	p.Arg308Gly	rs121909195	missense variant	-	NC_000008.11:g.71271802G>C	ExAC,gnomAD
EYA1	Q99502	p.Arg308Gln	rs369822742	missense variant	-	NC_000008.11:g.71271801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg308Ter	RCV000844696	nonsense	Rare genetic deafness	NC_000008.11:g.71271802G>A	ClinVar
EYA1	Q99502	p.Asn310Asp	rs1299287501	missense variant	-	NC_000008.11:g.71271796T>C	TOPMed,gnomAD
EYA1	Q99502	p.Asn310Lys	rs745910111	missense variant	-	NC_000008.11:g.71271794G>T	ExAC,gnomAD
EYA1	Q99502	p.Pro313Leu	rs868681957	missense variant	-	NC_000008.11:g.71271786G>A	-
EYA1	Q99502	p.Pro316Ser	rs1389336466	missense variant	-	NC_000008.11:g.71271778G>A	gnomAD
EYA1	Q99502	p.Glu322Gln	rs754882532	missense variant	-	NC_000008.11:g.71271760C>G	ExAC,gnomAD
EYA1	Q99502	p.Val324Ala	rs1431798771	missense variant	-	NC_000008.11:g.71269819A>G	gnomAD
EYA1	Q99502	p.Phe325Leu	rs1345089916	missense variant	-	NC_000008.11:g.71269815G>T	TOPMed
EYA1	Q99502	p.Asp328Asn	rs1177416665	missense variant	-	NC_000008.11:g.71269808C>T	gnomAD
EYA1	Q99502	p.Ile333Val	rs1480195366	missense variant	-	NC_000008.11:g.71269793T>C	gnomAD
EYA1	Q99502	p.Ile334Val	rs1220662407	missense variant	-	NC_000008.11:g.71269790T>C	TOPMed
EYA1	Q99502	p.Ser338Ter	RCV000634144	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269775_71269778del	ClinVar
EYA1	Q99502	p.Thr341Ile	rs1266528712	missense variant	-	NC_000008.11:g.71269768G>A	gnomAD
EYA1	Q99502	p.Ala345Thr	rs770168786	missense variant	-	NC_000008.11:g.71269757C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg347Thr	rs1202903388	missense variant	-	NC_000008.11:g.71269750C>G	gnomAD
EYA1	Q99502	p.Tyr348Ter	RCV000625536	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71269746A>C	ClinVar
EYA1	Q99502	p.Tyr348Ter	rs1554615511	stop gained	-	NC_000008.11:g.71269746A>C	-
EYA1	Q99502	p.Arg361Ter	RCV000008406	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71244662G>A	ClinVar
EYA1	Q99502	p.Arg361Gln	rs145219836	missense variant	-	NC_000008.11:g.71244661C>T	1000Genomes,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg361Ter	rs121909202	stop gained	-	NC_000008.11:g.71244662G>A	gnomAD
EYA1	Q99502	p.Arg361Ter	RCV000008405	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71244662G>A	ClinVar
EYA1	Q99502	p.Met362Ile	rs907099635	missense variant	-	NC_000008.11:g.71244657C>T	TOPMed
EYA1	Q99502	p.Glu363Lys	RCV000008399	missense variant	Anterior segment anomalies	NC_000008.11:g.71244656C>T	ClinVar
EYA1	Q99502	p.Glu363Lys	rs121909198	missense variant	-	NC_000008.11:g.71244656C>T	-
EYA1	Q99502	p.Glu363Lys	rs121909198	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt,dbSNP
EYA1	Q99502	p.Glu363Lys	VAR_016864	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71244656C>T	UniProt
EYA1	Q99502	p.Glu363Val	VAR_064944	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Glu364Ter	RCV000221224	nonsense	Rare genetic deafness	NC_000008.11:g.71244653C>A	ClinVar
EYA1	Q99502	p.Glu364Ter	rs876657689	stop gained	-	NC_000008.11:g.71244653C>A	-
EYA1	Q99502	p.Glu364Asp	rs778958308	missense variant	-	NC_000008.11:g.71244651T>G	ExAC,gnomAD
EYA1	Q99502	p.Met365Thr	rs1484562404	missense variant	-	NC_000008.11:g.71244649A>G	TOPMed
EYA1	Q99502	p.Asn368Asp	rs1410388380	missense variant	-	NC_000008.11:g.71244641T>C	gnomAD
EYA1	Q99502	p.Asn368Ser	rs757164392	missense variant	-	NC_000008.11:g.71244640T>C	ExAC,gnomAD
EYA1	Q99502	p.Leu369Phe	RCV000149002	missense variant	Malignant tumor of prostate	NC_000008.11:g.71244636C>A	ClinVar
EYA1	Q99502	p.Leu369Phe	rs193920835	missense variant	-	NC_000008.11:g.71244636C>A	ExAC,gnomAD
EYA1	Q99502	p.Thr372Ile	rs777268280	missense variant	-	NC_000008.11:g.71244628G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His373Ter	RCV000255636	frameshift	-	NC_000008.11:g.71244626_71244627GT[2]	ClinVar
EYA1	Q99502	p.His373Tyr	rs371974738	missense variant	-	NC_000008.11:g.71244626G>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Leu374Ter	RCV000041385	frameshift	Rare genetic deafness	NC_000008.11:g.71244621del	ClinVar
EYA1	Q99502	p.Asp378Tyr	rs1421127358	missense variant	-	NC_000008.11:g.71244611C>A	TOPMed
EYA1	Q99502	p.Glu381Gln	rs751887655	missense variant	-	NC_000008.11:g.71217023C>G	ExAC,gnomAD
EYA1	Q99502	p.Cys382Tyr	rs1385811609	missense variant	-	NC_000008.11:g.71217019C>T	TOPMed,gnomAD
EYA1	Q99502	p.Cys382Arg	rs766669312	missense variant	-	NC_000008.11:g.71217020A>G	ExAC,gnomAD
EYA1	Q99502	p.Asp383Glu	rs1338058043	missense variant	-	NC_000008.11:g.71217015G>T	gnomAD
EYA1	Q99502	p.Val385Leu	rs1470014710	missense variant	-	NC_000008.11:g.71217011C>G	gnomAD
EYA1	Q99502	p.His386Tyr	rs751039720	missense variant	-	NC_000008.11:g.71217008G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val390Ala	rs762034700	missense variant	-	NC_000008.11:g.71216995A>G	ExAC,gnomAD
EYA1	Q99502	p.Val390Gly	rs762034700	missense variant	-	NC_000008.11:g.71216995A>C	ExAC,gnomAD
EYA1	Q99502	p.Asn395Lys	rs372488542	missense variant	-	NC_000008.11:g.71216979G>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly396Arg	RCV000150674	missense variant	-	NC_000008.11:g.71216978C>T	ClinVar
EYA1	Q99502	p.Gly396Arg	rs727503047	missense variant	-	NC_000008.11:g.71216978C>T	gnomAD
EYA1	Q99502	p.Gln397Arg	rs760811461	missense variant	-	NC_000008.11:g.71216974T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr406Arg	rs376251253	missense variant	-	NC_000008.11:g.71216835G>C	ESP
EYA1	Q99502	p.Ala411Pro	rs1392799354	missense variant	-	NC_000008.11:g.71216821C>G	TOPMed,gnomAD
EYA1	Q99502	p.Ala412Gly	rs1388902851	missense variant	-	NC_000008.11:g.71216817G>C	TOPMed
EYA1	Q99502	p.Ala413Val	rs1325043214	missense variant	-	NC_000008.11:g.71216814G>A	TOPMed
EYA1	Q99502	p.Ser415Arg	rs769657024	missense variant	-	NC_000008.11:g.71216807A>C	ExAC,gnomAD
EYA1	Q99502	p.Cys419Arg	rs761755658	missense variant	-	NC_000008.11:g.71216797A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Leu420Phe	rs768120097	missense variant	-	NC_000008.11:g.71216792C>G	ExAC,gnomAD
EYA1	Q99502	p.Leu420Phe	rs768120097	missense variant	-	NC_000008.11:g.71216792C>A	ExAC,gnomAD
EYA1	Q99502	p.Thr422Ser	rs779623204	missense variant	-	NC_000008.11:g.71216788T>A	ExAC,gnomAD
EYA1	Q99502	p.Thr422Pro	rs779623204	missense variant	-	NC_000008.11:g.71216788T>G	ExAC,gnomAD
EYA1	Q99502	p.Gly423Ala	rs771779342	missense variant	-	NC_000008.11:g.71216784C>G	ExAC,gnomAD
EYA1	Q99502	p.Gly423Val	rs771779342	missense variant	-	NC_000008.11:g.71216784C>A	ExAC,gnomAD
EYA1	Q99502	p.Val424Ile	rs746195192	missense variant	-	NC_000008.11:g.71216782C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg425Gly	rs779423947	missense variant	-	NC_000008.11:g.71216779G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg425Trp	rs779423947	missense variant	-	NC_000008.11:g.71216779G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Arg425Gln	rs757780695	missense variant	-	NC_000008.11:g.71216778C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly426Ser	RCV000367199	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71216776C>T	ClinVar
EYA1	Q99502	p.Gly426Ser	rs121909199	missense variant	-	NC_000008.11:g.71216776C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Gly426Ala	rs1181243766	missense variant	-	NC_000008.11:g.71216775C>G	gnomAD
EYA1	Q99502	p.Gly426Ser	rs121909199	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt,dbSNP
EYA1	Q99502	p.Gly426Ser	VAR_016865	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216776C>T	UniProt
EYA1	Q99502	p.Gly426Ser	RCV000309264	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71216776C>T	ClinVar
EYA1	Q99502	p.Gly427Asp	rs752939522	missense variant	-	NC_000008.11:g.71216772C>T	ExAC,gnomAD
EYA1	Q99502	p.Gly427Ser	rs756186032	missense variant	-	NC_000008.11:g.71216773C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val428Met	rs1488650592	missense variant	-	NC_000008.11:g.71216770C>T	TOPMed
EYA1	Q99502	p.Asp429Gly	VAR_016866	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Met431Thr	rs1211420496	missense variant	-	NC_000008.11:g.71216760A>G	TOPMed
EYA1	Q99502	p.Arg432Lys	rs727503046	missense variant	-	NC_000008.11:g.71216757C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg432Lys	RCV000150672	missense variant	-	NC_000008.11:g.71216757C>T	ClinVar
EYA1	Q99502	p.Arg432Gly	rs1267032760	missense variant	-	NC_000008.11:g.71216758T>C	TOPMed
EYA1	Q99502	p.Lys433Arg	rs759781016	missense variant	-	NC_000008.11:g.71216754T>C	ExAC,gnomAD
EYA1	Q99502	p.Ala435Thr	rs138550731	missense variant	-	NC_000008.11:g.71216749C>T	1000Genomes
EYA1	Q99502	p.Arg437Ser	rs1240529273	missense variant	-	NC_000008.11:g.71216743G>T	TOPMed,gnomAD
EYA1	Q99502	p.Arg437Cys	rs1240529273	missense variant	-	NC_000008.11:g.71216743G>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg437His	rs750164019	missense variant	-	NC_000008.11:g.71216742C>T	ExAC,gnomAD
EYA1	Q99502	p.Tyr438Cys	rs1374801818	missense variant	-	NC_000008.11:g.71216739T>C	TOPMed,gnomAD
EYA1	Q99502	p.Tyr438Phe	rs1374801818	missense variant	-	NC_000008.11:g.71216739T>A	TOPMed,gnomAD
EYA1	Q99502	p.Arg440Trp	RCV000219608	missense variant	-	NC_000008.11:g.71216734G>A	ClinVar
EYA1	Q99502	p.Arg440Trp	rs376931849	missense variant	-	NC_000008.11:g.71216734G>A	ESP,ExAC,gnomAD
EYA1	Q99502	p.Arg440Gln	rs121909196	missense variant	-	NC_000008.11:g.71216733C>T	-
EYA1	Q99502	p.Arg440Gln	rs121909196	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt,dbSNP
EYA1	Q99502	p.Arg440Gln	VAR_016867	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71216733C>T	UniProt
EYA1	Q99502	p.Arg440Gln	RCV000008397	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216733C>T	ClinVar
EYA1	Q99502	p.Arg440Gln	RCV000844628	missense variant	Rare genetic deafness	NC_000008.11:g.71216733C>T	ClinVar
EYA1	Q99502	p.Glu443Ter	RCV000634146	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71216723_71216724CT[1]	ClinVar
EYA1	Q99502	p.Ile444Phe	rs533769812	missense variant	-	NC_000008.11:g.71216722T>A	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Tyr445Cys	rs1406115296	missense variant	-	NC_000008.11:g.71216718T>C	gnomAD
EYA1	Q99502	p.Thr447Ile	rs771783731	missense variant	-	NC_000008.11:g.71216712G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Thr447Ala	rs775097398	missense variant	-	NC_000008.11:g.71216713T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr448Cys	rs779406323	missense variant	-	NC_000008.11:g.71216709T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr448His	rs373851946	missense variant	-	NC_000008.11:g.71216710A>G	ESP
EYA1	Q99502	p.Asn451Ser	rs1471693639	missense variant	-	NC_000008.11:g.71216700T>C	gnomAD
EYA1	Q99502	p.Pro458Ala	rs771397353	missense variant	-	NC_000008.11:g.71215717G>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala459Gly	rs1428992631	missense variant	-	NC_000008.11:g.71215713G>C	TOPMed,gnomAD
EYA1	Q99502	p.Glu462Lys	rs770129052	missense variant	-	NC_000008.11:g.71215705C>T	ExAC,gnomAD
EYA1	Q99502	p.Glu462Asp	rs997974243	missense variant	-	NC_000008.11:g.71215703T>A	TOPMed
EYA1	Q99502	p.Ala463Thr	rs1263352919	missense variant	-	NC_000008.11:g.71215702C>T	TOPMed,gnomAD
EYA1	Q99502	p.Ala463Val	rs1201441499	missense variant	-	NC_000008.11:g.71215701G>A	gnomAD
EYA1	Q99502	p.Leu467Phe	rs781247880	missense variant	-	NC_000008.11:g.71215688C>G	ExAC,gnomAD
EYA1	Q99502	p.Arg468Gly	RCV000150670	missense variant	-	NC_000008.11:g.71215687T>C	ClinVar
EYA1	Q99502	p.Arg468Lys	rs755093166	missense variant	-	NC_000008.11:g.71215686C>T	ExAC,gnomAD
EYA1	Q99502	p.Arg468Gly	rs727503044	missense variant	-	NC_000008.11:g.71215687T>C	-
EYA1	Q99502	p.Ala469Thr	rs1366511376	missense variant	-	NC_000008.11:g.71215684C>T	gnomAD
EYA1	Q99502	p.Glu470Lys	rs780203392	missense variant	-	NC_000008.11:g.71215681C>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile471Phe	rs1326367793	missense variant	-	NC_000008.11:g.71215678T>A	TOPMed
EYA1	Q99502	p.Thr475Asn	rs1337631504	missense variant	-	NC_000008.11:g.71215665G>T	gnomAD
EYA1	Q99502	p.Asp476Asn	RCV000221919	missense variant	-	NC_000008.11:g.71215663C>T	ClinVar
EYA1	Q99502	p.Asp476Asn	rs371408686	missense variant	-	NC_000008.11:g.71215663C>T	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser477Cys	rs755991512	missense variant	-	NC_000008.11:g.71215659G>C	ExAC,gnomAD
EYA1	Q99502	p.Trp478Leu	rs1475718221	missense variant	-	NC_000008.11:g.71215656C>A	gnomAD
EYA1	Q99502	p.Leu479Val	rs752745332	missense variant	-	NC_000008.11:g.71215654A>C	ExAC
EYA1	Q99502	p.Leu479Phe	rs1320843367	missense variant	-	NC_000008.11:g.71215652C>G	TOPMed
EYA1	Q99502	p.Leu481Val	rs767104377	missense variant	-	NC_000008.11:g.71215648G>C	ExAC,gnomAD
EYA1	Q99502	p.Ala485Val	rs778970223	missense variant	-	NC_000008.11:g.71215635G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser487Pro	RCV000008402	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215630A>G	ClinVar
EYA1	Q99502	p.Ser487Leu	RCV000289230	missense variant	Branchiootorenal Spectrum Disorders	NC_000008.11:g.71215629G>A	ClinVar
EYA1	Q99502	p.Ser487Leu	rs139717960	missense variant	-	NC_000008.11:g.71215629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser487Pro	rs121909200	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt,dbSNP
EYA1	Q99502	p.Ser487Pro	VAR_005203	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215630A>G	UniProt
EYA1	Q99502	p.Ser487Pro	rs121909200	missense variant	-	NC_000008.11:g.71215630A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser487Leu	RCV000401819	missense variant	Otofaciocervical syndrome 1 (OTFCS)	NC_000008.11:g.71215629G>A	ClinVar
EYA1	Q99502	p.His490Tyr	rs748575456	missense variant	-	NC_000008.11:g.71215621G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His490Asn	rs748575456	missense variant	-	NC_000008.11:g.71215621G>T	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ser491Cys	rs769175446	missense variant	-	NC_000008.11:g.71215617G>C	ExAC,gnomAD
EYA1	Q99502	p.Arg492Trp	rs1226367549	missense variant	-	NC_000008.11:g.71215615G>A	gnomAD
EYA1	Q99502	p.Cys495Ser	RCV000681783	missense variant	-	NC_000008.11:g.71215501A>T	ClinVar
EYA1	Q99502	p.Asn497Asp	rs779243288	missense variant	-	NC_000008.11:g.71215495T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile498Val	rs374397914	missense variant	-	NC_000008.11:g.71215492T>C	ESP,ExAC,gnomAD
EYA1	Q99502	p.Leu499Ser	rs963923024	missense variant	-	NC_000008.11:g.71215488A>G	TOPMed
EYA1	Q99502	p.Thr501Ter	RCV000008407	frameshift	Branchiootic syndrome (BOS1)	NC_000008.11:g.71215479_71215485del	ClinVar
EYA1	Q99502	p.Leu505Arg	RCV000008403	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71215470A>C	ClinVar
EYA1	Q99502	p.Leu505Arg	rs121909201	missense variant	-	NC_000008.11:g.71215470A>C	-
EYA1	Q99502	p.Leu505Arg	rs121909201	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt,dbSNP
EYA1	Q99502	p.Leu505Arg	VAR_005204	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71215470A>C	UniProt
EYA1	Q99502	p.Ala508Val	rs754901033	missense variant	-	NC_000008.11:g.71215461G>A	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ala510Thr	rs1180421427	missense variant	-	NC_000008.11:g.71215456C>T	TOPMed,gnomAD
EYA1	Q99502	p.Lys511Glu	rs1057520766	missense variant	-	NC_000008.11:g.71215453T>C	TOPMed
EYA1	Q99502	p.Lys511Ter	rs1057520766	stop gained	-	NC_000008.11:g.71215453T>A	TOPMed
EYA1	Q99502	p.Lys511Ter	RCV000420560	nonsense	-	NC_000008.11:g.71215453T>A	ClinVar
EYA1	Q99502	p.Phe521Leu	rs757978078	missense variant	-	NC_000008.11:g.71215423A>G	ExAC,gnomAD
EYA1	Q99502	p.Pro522Ser	rs1216806432	missense variant	-	NC_000008.11:g.71215420G>A	TOPMed,gnomAD
EYA1	Q99502	p.Ile523Val	rs1286346149	missense variant	-	NC_000008.11:g.71215417T>C	gnomAD
EYA1	Q99502	p.Ile523Thr	rs749926851	missense variant	-	NC_000008.11:g.71215416A>G	ExAC,gnomAD
EYA1	Q99502	p.Ile526Val	rs764905187	missense variant	-	NC_000008.11:g.71215408T>C	ExAC,gnomAD
EYA1	Q99502	p.Tyr527Asn	RCV000041389	missense variant	Rare genetic deafness	NC_000008.11:g.71215405A>T	ClinVar
EYA1	Q99502	p.Tyr527Asn	rs397517918	missense variant	-	NC_000008.11:g.71215405A>T	-
EYA1	Q99502	p.Tyr527Cys	VAR_064946	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Gly533Arg	RCV000681852	missense variant	-	NC_000008.11:g.71215387C>G	ClinVar
EYA1	Q99502	p.Glu535Lys	rs756891032	missense variant	-	NC_000008.11:g.71211251C>T	ExAC,gnomAD
EYA1	Q99502	p.Cys537Ser	rs1271698025	missense variant	-	NC_000008.11:g.71211244C>G	TOPMed
EYA1	Q99502	p.Cys537Arg	RCV000634145	missense variant	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211245A>G	ClinVar
EYA1	Q99502	p.Cys537Arg	rs1554594182	missense variant	-	NC_000008.11:g.71211245A>G	-
EYA1	Q99502	p.Glu539Ter	rs1060499603	stop gained	-	NC_000008.11:g.71211239C>A	-
EYA1	Q99502	p.Glu539Ter	RCV000477858	nonsense	Branchiootic syndrome (BOS1)	NC_000008.11:g.71211239C>A	ClinVar
EYA1	Q99502	p.Arg540Ser	rs979889982	missense variant	-	NC_000008.11:g.71211234T>A	TOPMed,gnomAD
EYA1	Q99502	p.Ile541Leu	rs753553594	missense variant	-	NC_000008.11:g.71211233T>G	ExAC,gnomAD
EYA1	Q99502	p.Ile541Val	rs753553594	missense variant	-	NC_000008.11:g.71211233T>C	ExAC,gnomAD
EYA1	Q99502	p.Ile542Met	rs764411004	missense variant	-	NC_000008.11:g.71211228A>C	ExAC
EYA1	Q99502	p.Ile542Asn	rs1410459961	missense variant	-	NC_000008.11:g.71211229A>T	gnomAD
EYA1	Q99502	p.Arg544Lys	rs756517701	missense variant	-	NC_000008.11:g.71211223C>T	ExAC,gnomAD
EYA1	Q99502	p.Phe545Ser	rs1392532916	missense variant	-	NC_000008.11:g.71211220A>G	gnomAD
EYA1	Q99502	p.Arg547Gly	RCV000008398	missense variant	Anterior segment anomalies and cataract	NC_000008.11:g.71211215T>C	ClinVar
EYA1	Q99502	p.Arg547Gly	rs121909197	missense variant	-	NC_000008.11:g.71211215T>C	-
EYA1	Q99502	p.Arg547Gly	rs121909197	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt,dbSNP
EYA1	Q99502	p.Arg547Gly	VAR_016868	missense variant	Anterior segment anomalies with or without cataract (ASA)	NC_000008.11:g.71211215T>C	UniProt
EYA1	Q99502	p.Val549Ala	rs753024835	missense variant	-	NC_000008.11:g.71211208A>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile554Thr	rs1475511000	missense variant	-	NC_000008.11:g.71211193A>G	TOPMed
EYA1	Q99502	p.Ile554Leu	rs1422893057	missense variant	-	NC_000008.11:g.71211194T>A	TOPMed
EYA1	Q99502	p.Gly557Ala	rs766423472	missense variant	-	NC_000008.11:g.71211184C>G	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Val558Ala	rs376013085	missense variant	-	NC_000008.11:g.71211181A>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Glu561Gln	rs1457532578	missense variant	-	NC_000008.11:g.71211173C>G	TOPMed
EYA1	Q99502	p.Gln562Ter	RCV000536666	nonsense	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211170G>A	ClinVar
EYA1	Q99502	p.Gln562Arg	rs916761910	missense variant	-	NC_000008.11:g.71211169T>C	TOPMed
EYA1	Q99502	p.Gln562Glu	rs1481254965	missense variant	-	NC_000008.11:g.71211170G>C	TOPMed,gnomAD
EYA1	Q99502	p.Gln562Ter	rs1481254965	stop gained	-	NC_000008.11:g.71211170G>A	TOPMed,gnomAD
EYA1	Q99502	p.Gly563Arg	rs1429589719	missense variant	-	NC_000008.11:g.71211167C>T	gnomAD
EYA1	Q99502	p.Gly563Glu	rs1180940999	missense variant	-	NC_000008.11:g.71211166C>T	gnomAD
EYA1	Q99502	p.Ala564Gly	rs549524090	missense variant	-	NC_000008.11:g.71211163G>C	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Ala564Thr	rs1471350873	missense variant	-	NC_000008.11:g.71211164C>T	gnomAD
EYA1	Q99502	p.Ala564Glu	rs549524090	missense variant	-	NC_000008.11:g.71211163G>T	1000Genomes,ExAC,gnomAD
EYA1	Q99502	p.Lys565Ter	RCV000008396	frameshift	Melnick-Fraser syndrome (BOR1)	NC_000008.11:g.71211156_71211159del	ClinVar
EYA1	Q99502	p.Lys565Glu	rs1309239827	missense variant	-	NC_000008.11:g.71211161T>C	gnomAD
EYA1	Q99502	p.Lys565Ile	rs1318210474	missense variant	-	NC_000008.11:g.71211160T>A	TOPMed
EYA1	Q99502	p.Lys566Thr	rs143798228	missense variant	-	NC_000008.11:g.71211157T>G	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Lys566Ter	RCV000041390	frameshift	Rare genetic deafness	NC_000008.11:g.71211156_71211157insA	ClinVar
EYA1	Q99502	p.Lys566Arg	rs143798228	missense variant	-	NC_000008.11:g.71211157T>C	ESP,ExAC,TOPMed,gnomAD
EYA1	Q99502	p.His567Gln	rs763080811	missense variant	-	NC_000008.11:g.71199418G>T	ExAC,gnomAD
EYA1	Q99502	p.Ala568Val	rs765493132	missense variant	-	NC_000008.11:g.71199416G>A	ExAC,gnomAD
EYA1	Q99502	p.Ala568Thr	rs773461292	missense variant	-	NC_000008.11:g.71199417C>T	ExAC,gnomAD
EYA1	Q99502	p.Met569Thr	VAR_064947	Missense	Branchiootorenal syndrome 1 (BOR1) [MIM:113650]	-	UniProt
EYA1	Q99502	p.Trp572Ter	RCV000486264	frameshift	-	NC_000008.11:g.71199405dup	ClinVar
EYA1	Q99502	p.Arg573Gly	rs775343638	missense variant	-	NC_000008.11:g.71199402T>C	ExAC,TOPMed,gnomAD
EYA1	Q99502	p.Ile574Thr	rs771831582	missense variant	-	NC_000008.11:g.71199398A>G	ExAC,gnomAD
EYA1	Q99502	p.Ile574Val	rs1048727343	missense variant	-	NC_000008.11:g.71199399T>C	TOPMed,gnomAD
EYA1	Q99502	p.Ser575Pro	rs745786446	missense variant	-	NC_000008.11:g.71199396A>G	ExAC,gnomAD
EYA1	Q99502	p.Ser575Cys	rs774201991	missense variant	-	NC_000008.11:g.71199395G>C	ExAC,gnomAD
EYA1	Q99502	p.Ser578Leu	rs900450966	missense variant	-	NC_000008.11:g.71199386G>A	gnomAD
EYA1	Q99502	p.Leu583Pro	RCV000763604	missense variant	Branchiootic syndrome (BOS1)	NC_000008.11:g.71199371A>G	ClinVar
EYA1	Q99502	p.Leu583Pro	RCV000041392	missense variant	Rare genetic deafness	NC_000008.11:g.71199371A>G	ClinVar
EYA1	Q99502	p.Leu583Pro	rs397517920	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt,dbSNP
EYA1	Q99502	p.Leu583Pro	VAR_016869	missense variant	Branchiootorenal syndrome 1 (BOR1)	NC_000008.11:g.71199371A>G	UniProt
EYA1	Q99502	p.Leu583Pro	rs397517920	missense variant	-	NC_000008.11:g.71199371A>G	-
MNT	Q99583	p.Ser2Gly	rs1388069922	missense variant	-	NC_000017.11:g.2400709T>C	gnomAD
MNT	Q99583	p.Thr5SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.2400699G>-	NCI-TCGA
MNT	Q99583	p.Leu7Pro	rs945520116	missense variant	-	NC_000017.11:g.2400693A>G	TOPMed
MNT	Q99583	p.Arg11Gly	rs1475971340	missense variant	-	NC_000017.11:g.2400682G>C	gnomAD
MNT	Q99583	p.Arg11Cys	rs1475971340	missense variant	-	NC_000017.11:g.2400682G>A	gnomAD
MNT	Q99583	p.Phe12Tyr	rs1358054071	missense variant	-	NC_000017.11:g.2400678A>T	TOPMed,gnomAD
MNT	Q99583	p.Trp15Arg	rs1206501497	missense variant	-	NC_000017.11:g.2400670A>G	gnomAD
MNT	Q99583	p.Ala17Glu	rs775982703	missense variant	-	NC_000017.11:g.2400663G>T	ExAC,gnomAD
MNT	Q99583	p.Gln18Glu	rs772080642	missense variant	-	NC_000017.11:g.2400661G>C	ExAC,gnomAD
MNT	Q99583	p.Gln19Glu	rs745968423	missense variant	-	NC_000017.11:g.2400658G>C	ExAC,gnomAD
MNT	Q99583	p.Gln20Glu	rs774592765	missense variant	-	NC_000017.11:g.2400655G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gln20Arg	rs771026679	missense variant	-	NC_000017.11:g.2400654T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala23Thr	rs1363870932	missense variant	-	NC_000017.11:g.2400646C>T	gnomAD
MNT	Q99583	p.Arg24Cys	rs777414527	missense variant	-	NC_000017.11:g.2400643G>A	ExAC,gnomAD
MNT	Q99583	p.Glu26Gln	rs1435694673	missense variant	-	NC_000017.11:g.2395452C>G	TOPMed
MNT	Q99583	p.Glu26Lys	rs1435694673	missense variant	-	NC_000017.11:g.2395452C>T	TOPMed
MNT	Q99583	p.Glu28Lys	rs201034336	missense variant	-	NC_000017.11:g.2395446C>T	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Arg29Trp	rs1256799325	missense variant	-	NC_000017.11:g.2395443G>A	TOPMed,gnomAD
MNT	Q99583	p.Arg29Gln	rs368005816	missense variant	-	NC_000017.11:g.2395442C>T	ESP,ExAC,gnomAD
MNT	Q99583	p.Arg31His	rs752173068	missense variant	-	NC_000017.11:g.2395436C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg31Cys	rs767918041	missense variant	-	NC_000017.11:g.2395437G>A	ExAC,gnomAD
MNT	Q99583	p.Arg31Pro	rs752173068	missense variant	-	NC_000017.11:g.2395436C>G	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Leu32Val	rs1162192118	missense variant	-	NC_000017.11:g.2395434A>C	TOPMed
MNT	Q99583	p.Glu33Asp	COSM976682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2395429C>A	NCI-TCGA Cosmic
MNT	Q99583	p.Gln34Glu	rs556568463	missense variant	-	NC_000017.11:g.2395428G>C	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Glu35Lys	rs763118760	missense variant	-	NC_000017.11:g.2395425C>T	ExAC,gnomAD
MNT	Q99583	p.Arg36Pro	rs201879561	missense variant	-	NC_000017.11:g.2395421C>G	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg36Gln	rs201879561	missense variant	-	NC_000017.11:g.2395421C>T	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Glu37Lys	rs1464234251	missense variant	-	NC_000017.11:g.2395419C>T	gnomAD
MNT	Q99583	p.Lys41Arg	rs984362026	missense variant	-	NC_000017.11:g.2395406T>C	TOPMed
MNT	Q99583	p.Lys42Glu	rs918799333	missense variant	-	NC_000017.11:g.2395404T>C	TOPMed,gnomAD
MNT	Q99583	p.Lys42Asn	rs776554134	missense variant	-	NC_000017.11:g.2395402C>G	ExAC,gnomAD
MNT	Q99583	p.Lys42Thr	rs992509325	missense variant	-	NC_000017.11:g.2395403T>G	TOPMed
MNT	Q99583	p.Ala43Asp	rs768563139	missense variant	-	NC_000017.11:g.2395400G>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala43Val	rs768563139	missense variant	-	NC_000017.11:g.2395400G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala43Thr	rs994374103	missense variant	-	NC_000017.11:g.2395401C>T	TOPMed
MNT	Q99583	p.Asn44His	rs1482409860	missense variant	-	NC_000017.11:g.2395398T>G	gnomAD
MNT	Q99583	p.Ala47Val	rs780056367	missense variant	-	NC_000017.11:g.2395388G>A	ExAC,gnomAD
MNT	Q99583	p.Ala47Thr	rs570934050	missense variant	-	NC_000017.11:g.2395389C>T	1000Genomes,TOPMed
MNT	Q99583	p.Arg48Ser	rs771433131	missense variant	-	NC_000017.11:g.2395384C>A	ExAC,gnomAD
MNT	Q99583	p.Arg48Thr	rs1229047249	missense variant	-	NC_000017.11:g.2395385C>G	gnomAD
MNT	Q99583	p.Ala50Ser	rs745412288	missense variant	-	NC_000017.11:g.2395380C>A	ExAC,gnomAD
MNT	Q99583	p.His51Tyr	rs778433990	missense variant	-	NC_000017.11:g.2395377G>A	ExAC,gnomAD
MNT	Q99583	p.Thr52Asn	rs756880991	missense variant	-	NC_000017.11:g.2395373G>T	ExAC,gnomAD
MNT	Q99583	p.Glu56Lys	rs1393890248	missense variant	-	NC_000017.11:g.2395362C>T	gnomAD
MNT	Q99583	p.Glu56Val	rs755372271	missense variant	-	NC_000017.11:g.2395361T>A	ExAC,gnomAD
MNT	Q99583	p.Glu56Ala	rs755372271	missense variant	-	NC_000017.11:g.2395361T>G	ExAC,gnomAD
MNT	Q99583	p.Glu57Lys	rs1259719316	missense variant	-	NC_000017.11:g.2395359C>T	TOPMed
MNT	Q99583	p.Pro58Ser	rs766943479	missense variant	-	NC_000017.11:g.2395356G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro58Thr	rs766943479	missense variant	-	NC_000017.11:g.2395356G>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg59Gly	rs141569229	missense variant	-	NC_000017.11:g.2395353G>C	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg59His	rs370273802	missense variant	-	NC_000017.11:g.2395352C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg59Cys	rs141569229	missense variant	-	NC_000017.11:g.2395353G>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg59Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2395352C>G	NCI-TCGA
MNT	Q99583	p.Met60Ile	rs1475504534	missense variant	-	NC_000017.11:g.2395348C>T	gnomAD
MNT	Q99583	p.Ala62Gly	rs367751791	missense variant	-	NC_000017.11:g.2395343G>C	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro64Leu	rs138518103	missense variant	-	NC_000017.11:g.2395337G>A	ESP
MNT	Q99583	p.Pro64Ser	rs745854896	missense variant	-	NC_000017.11:g.2395338G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ser68Pro	rs1466304444	missense variant	-	NC_000017.11:g.2395326A>G	gnomAD
MNT	Q99583	p.Pro70Leu	rs748869504	missense variant	-	NC_000017.11:g.2395319G>A	ExAC,gnomAD
MNT	Q99583	p.Pro70Ser	rs770490564	missense variant	-	NC_000017.11:g.2395320G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala71Thr	rs1357712775	missense variant	-	NC_000017.11:g.2395317C>T	gnomAD
MNT	Q99583	p.Ala71Val	rs1267797985	missense variant	-	NC_000017.11:g.2395316G>A	gnomAD
MNT	Q99583	p.Pro73Leu	rs777491906	missense variant	-	NC_000017.11:g.2395310G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro74Arg	rs755261009	missense variant	-	NC_000017.11:g.2395307G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro74Gln	rs755261009	missense variant	-	NC_000017.11:g.2395307G>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro74Leu	rs755261009	missense variant	-	NC_000017.11:g.2395307G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala75Val	rs1226337693	missense variant	-	NC_000017.11:g.2395304G>A	TOPMed
MNT	Q99583	p.Ala75Glu	rs1226337693	missense variant	-	NC_000017.11:g.2395304G>T	TOPMed
MNT	Q99583	p.Pro76Leu	rs1319326582	missense variant	-	NC_000017.11:g.2395301G>A	gnomAD
MNT	Q99583	p.Pro77Leu	rs780335013	missense variant	-	NC_000017.11:g.2395298G>A	ExAC,gnomAD
MNT	Q99583	p.Pro78Thr	rs758935100	missense variant	-	NC_000017.11:g.2395296G>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro79Ser	rs751037795	missense variant	-	NC_000017.11:g.2395293G>A	ExAC,gnomAD
MNT	Q99583	p.Pro79Leu	rs765341764	missense variant	-	NC_000017.11:g.2395292G>A	ExAC,gnomAD
MNT	Q99583	p.Pro79Ala	rs751037795	missense variant	-	NC_000017.11:g.2395293G>C	ExAC,gnomAD
MNT	Q99583	p.Leu80Pro	rs1451573352	missense variant	-	NC_000017.11:g.2395289A>G	gnomAD
MNT	Q99583	p.Thr82Ser	rs1278982138	missense variant	-	NC_000017.11:g.2395284T>A	TOPMed
MNT	Q99583	p.Thr82Pro	rs1278982138	missense variant	-	NC_000017.11:g.2395284T>G	TOPMed
MNT	Q99583	p.Pro83Ser	rs1187969737	missense variant	-	NC_000017.11:g.2395281G>A	gnomAD
MNT	Q99583	p.Ala84Thr	rs754066762	missense variant	-	NC_000017.11:g.2395278C>T	ExAC,gnomAD
MNT	Q99583	p.Pro85Ser	rs371205383	missense variant	-	NC_000017.11:g.2395275G>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro85Leu	rs1356011841	missense variant	-	NC_000017.11:g.2395274G>A	gnomAD
MNT	Q99583	p.Val88Ile	rs1339669974	missense variant	-	NC_000017.11:g.2395266C>T	gnomAD
MNT	Q99583	p.Val88Leu	rs1339669974	missense variant	-	NC_000017.11:g.2395266C>G	gnomAD
MNT	Q99583	p.Ile89Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2395262A>G	NCI-TCGA
MNT	Q99583	p.Val94Met	rs1386143945	missense variant	-	NC_000017.11:g.2395248C>T	gnomAD
MNT	Q99583	p.Val94Ala	rs774272070	missense variant	-	NC_000017.11:g.2395247A>G	ExAC
MNT	Q99583	p.Asn96Ser	rs1370876590	missense variant	-	NC_000017.11:g.2395241T>C	TOPMed,gnomAD
MNT	Q99583	p.Ser97Tyr	rs1170276644	missense variant	-	NC_000017.11:g.2395238G>T	gnomAD
MNT	Q99583	p.Pro98Leu	rs1427624793	missense variant	-	NC_000017.11:g.2395235G>A	gnomAD
MNT	Q99583	p.Pro100Ser	rs1030626132	missense variant	-	NC_000017.11:g.2395230G>A	TOPMed,gnomAD
MNT	Q99583	p.Pro100Thr	rs1030626132	missense variant	-	NC_000017.11:g.2395230G>T	TOPMed,gnomAD
MNT	Q99583	p.Leu101Val	rs568230751	missense variant	-	NC_000017.11:g.2395227G>C	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Pro102Ser	rs915438993	missense variant	-	NC_000017.11:g.2395224G>A	TOPMed
MNT	Q99583	p.Pro104Leu	rs1197307127	missense variant	-	NC_000017.11:g.2395217G>A	gnomAD
MNT	Q99583	p.Pro104Ala	rs772640307	missense variant	-	NC_000017.11:g.2395218G>C	ExAC,gnomAD
MNT	Q99583	p.Pro105Thr	rs1287198992	missense variant	-	NC_000017.11:g.2395215G>T	TOPMed
MNT	Q99583	p.Pro108Leu	rs769468563	missense variant	-	NC_000017.11:g.2395205G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala109Ser	rs7207965	missense variant	-	NC_000017.11:g.2395203C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala109Val	rs746319729	missense variant	-	NC_000017.11:g.2395202G>A	ExAC,gnomAD
MNT	Q99583	p.Ala109Thr	rs7207965	missense variant	-	NC_000017.11:g.2395203C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala109Pro	rs7207965	missense variant	-	NC_000017.11:g.2395203C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gln112His	rs1485814331	missense variant	-	NC_000017.11:g.2395192C>G	TOPMed
MNT	Q99583	p.Leu114Met	rs757373794	missense variant	-	NC_000017.11:g.2395188G>T	ExAC
MNT	Q99583	p.Pro115Ser	rs1232379777	missense variant	-	NC_000017.11:g.2395185G>A	gnomAD
MNT	Q99583	p.Pro115Leu	rs1211001994	missense variant	-	NC_000017.11:g.2395184G>A	TOPMed
MNT	Q99583	p.Ala117Val	rs753921763	missense variant	-	NC_000017.11:g.2395178G>A	ExAC,gnomAD
MNT	Q99583	p.Pro118Ser	rs1407753978	missense variant	-	NC_000017.11:g.2395176G>A	gnomAD
MNT	Q99583	p.Pro118Leu	rs1369795146	missense variant	-	NC_000017.11:g.2395175G>A	TOPMed,gnomAD
MNT	Q99583	p.Arg119His	rs756345161	missense variant	-	NC_000017.11:g.2395172C>T	ExAC,gnomAD
MNT	Q99583	p.Arg119Cys	rs901141087	missense variant	-	NC_000017.11:g.2395173G>A	gnomAD
MNT	Q99583	p.Gln120Arg	rs752928972	missense variant	-	NC_000017.11:g.2395169T>C	ExAC,gnomAD
MNT	Q99583	p.Pro121Leu	rs767272538	missense variant	-	NC_000017.11:g.2395166G>A	ExAC,gnomAD
MNT	Q99583	p.Ala122Val	rs1413312272	missense variant	-	NC_000017.11:g.2395163G>A	gnomAD
MNT	Q99583	p.Val124Gly	rs1452955758	missense variant	-	NC_000017.11:g.2395157A>C	TOPMed
MNT	Q99583	p.Gly125Ser	rs1294099040	missense variant	-	NC_000017.11:g.2395155C>T	TOPMed
MNT	Q99583	p.Ala126Thr	rs1482274574	missense variant	-	NC_000017.11:g.2395152C>T	gnomAD
MNT	Q99583	p.Ala126Val	rs1276392268	missense variant	-	NC_000017.11:g.2395151G>A	TOPMed,gnomAD
MNT	Q99583	p.Pro127Thr	rs1232666462	missense variant	-	NC_000017.11:g.2395149G>T	TOPMed,gnomAD
MNT	Q99583	p.Pro127Leu	rs766275601	missense variant	-	NC_000017.11:g.2395148G>A	ExAC,gnomAD
MNT	Q99583	p.Gly128Arg	rs772769767	missense variant	-	NC_000017.11:g.2395146C>T	ExAC,TOPMed
MNT	Q99583	p.Ser130Arg	rs1275845249	missense variant	-	NC_000017.11:g.2395138G>T	gnomAD
MNT	Q99583	p.Glu133Lys	rs1304193088	missense variant	-	NC_000017.11:g.2395131C>T	TOPMed
MNT	Q99583	p.Pro134Leu	rs1329315568	missense variant	-	NC_000017.11:g.2395127G>A	gnomAD
MNT	Q99583	p.Ala135Val	rs867302467	missense variant	-	NC_000017.11:g.2395124G>A	TOPMed
MNT	Q99583	p.Pro136Ala	rs769258532	missense variant	-	NC_000017.11:g.2395122G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Leu137CysPheSerTerUnkUnk	COSM4430419	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2395119G>-	NCI-TCGA Cosmic
MNT	Q99583	p.Pro138Arg	rs1284593021	missense variant	-	NC_000017.11:g.2395115G>C	TOPMed,gnomAD
MNT	Q99583	p.Pro138Thr	rs1349590761	missense variant	-	NC_000017.11:g.2395116G>T	gnomAD
MNT	Q99583	p.Pro138His	rs1284593021	missense variant	-	NC_000017.11:g.2395115G>T	TOPMed,gnomAD
MNT	Q99583	p.Pro141Leu	rs776161708	missense variant	-	NC_000017.11:g.2395106G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro141Arg	rs776161708	missense variant	-	NC_000017.11:g.2395106G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro141Gln	rs776161708	missense variant	-	NC_000017.11:g.2395106G>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Val143Leu	rs772517951	missense variant	-	NC_000017.11:g.2395101C>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr145Asn	rs1005928970	missense variant	-	NC_000017.11:g.2395094G>T	TOPMed,gnomAD
MNT	Q99583	p.Thr145Ser	rs1005928970	missense variant	-	NC_000017.11:g.2395094G>C	TOPMed,gnomAD
MNT	Q99583	p.Pro146Leu	rs1161916398	missense variant	-	NC_000017.11:g.2395091G>A	gnomAD
MNT	Q99583	p.Ala147Thr	rs1407652882	missense variant	-	NC_000017.11:g.2395089C>T	TOPMed,gnomAD
MNT	Q99583	p.Ala147Asp	rs1182835833	missense variant	-	NC_000017.11:g.2395088G>T	gnomAD
MNT	Q99583	p.Pro148Ser	rs1235371471	missense variant	-	NC_000017.11:g.2395086G>A	TOPMed,gnomAD
MNT	Q99583	p.Pro148Arg	rs531969658	missense variant	-	NC_000017.11:g.2395085G>C	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Pro148Leu	rs531969658	missense variant	-	NC_000017.11:g.2395085G>A	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Leu150Val	rs777899689	missense variant	-	NC_000017.11:g.2395080G>C	ExAC,gnomAD
MNT	Q99583	p.Pro151Leu	rs756153114	missense variant	-	NC_000017.11:g.2395076G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Asp152Asn	rs1316305217	missense variant	-	NC_000017.11:g.2395074C>T	gnomAD
MNT	Q99583	p.Ser153Leu	rs1026017229	missense variant	-	NC_000017.11:g.2395070G>A	TOPMed
MNT	Q99583	p.Ala155Thr	rs1229793591	missense variant	-	NC_000017.11:g.2395065C>T	gnomAD
MNT	Q99583	p.Ile157Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2395058A>G	NCI-TCGA
MNT	Q99583	p.Pro159Leu	rs751334803	missense variant	-	NC_000017.11:g.2395052G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro159His	rs751334803	missense variant	-	NC_000017.11:g.2395052G>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Asn160Ile	rs539911054	missense variant	-	NC_000017.11:g.2395049T>A	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Asn160Ser	rs539911054	missense variant	-	NC_000017.11:g.2395049T>C	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gly161Ser	rs764750453	missense variant	-	NC_000017.11:g.2395047C>T	ExAC,gnomAD
MNT	Q99583	p.Ser162Cys	rs761255582	missense variant	-	NC_000017.11:g.2395044T>A	ExAC,gnomAD
MNT	Q99583	p.Ser162Arg	rs768394804	missense variant	-	NC_000017.11:g.2395042G>T	ExAC,gnomAD
MNT	Q99583	p.Ser162Asn	rs776310192	missense variant	-	NC_000017.11:g.2395043C>T	ExAC,gnomAD
MNT	Q99583	p.Pro163His	rs760450312	missense variant	-	NC_000017.11:g.2395040G>T	ExAC
MNT	Q99583	p.Lys164Arg	rs774839279	missense variant	-	NC_000017.11:g.2395037T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Lys164Asn	rs1001250384	missense variant	-	NC_000017.11:g.2395036C>G	TOPMed,gnomAD
MNT	Q99583	p.Pro165Ala	rs771485349	missense variant	-	NC_000017.11:g.2395035G>C	ExAC,gnomAD
MNT	Q99583	p.Gln167Arg	rs749732213	missense variant	-	NC_000017.11:g.2395028T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro168Ala	rs1186093037	missense variant	-	NC_000017.11:g.2395026G>C	gnomAD
MNT	Q99583	p.Leu169Val	rs778156303	missense variant	-	NC_000017.11:g.2395023G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Leu169Phe	rs778156303	missense variant	-	NC_000017.11:g.2395023G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro170Ala	rs769861969	missense variant	-	NC_000017.11:g.2395020G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro170His	rs748205933	missense variant	-	NC_000017.11:g.2395019G>T	ExAC,gnomAD
MNT	Q99583	p.Thr171Met	rs751847898	missense variant	-	NC_000017.11:g.2395016G>A	ExAC,gnomAD
MNT	Q99583	p.Pro172Ser	rs1300148510	missense variant	-	NC_000017.11:g.2395014G>A	gnomAD
MNT	Q99583	p.Ile176Met	rs758145290	missense variant	-	NC_000017.11:g.2395000T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala177Val	rs1419949328	missense variant	-	NC_000017.11:g.2394998G>A	TOPMed
MNT	Q99583	p.Pro178Thr	rs750330304	missense variant	-	NC_000017.11:g.2394996G>T	ExAC,gnomAD
MNT	Q99583	p.His179Tyr	rs765121802	missense variant	-	NC_000017.11:g.2394993G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro180Ser	rs757262057	missense variant	-	NC_000017.11:g.2394990G>A	ExAC,gnomAD
MNT	Q99583	p.Pro180Arg	rs1430848497	missense variant	-	NC_000017.11:g.2394989G>C	gnomAD
MNT	Q99583	p.Pro184Ser	rs1427409354	missense variant	-	NC_000017.11:g.2394978G>A	gnomAD
MNT	Q99583	p.Leu186Gln	rs1425269621	missense variant	-	NC_000017.11:g.2394971A>T	gnomAD
MNT	Q99583	p.Ala187Asp	rs926932913	missense variant	-	NC_000017.11:g.2394968G>T	TOPMed,gnomAD
MNT	Q99583	p.Ala187Val	rs926932913	missense variant	-	NC_000017.11:g.2394968G>A	TOPMed,gnomAD
MNT	Q99583	p.Pro188Leu	rs763752700	missense variant	-	NC_000017.11:g.2394965G>A	ExAC,gnomAD
MNT	Q99583	p.Pro188Ser	rs1267870423	missense variant	-	NC_000017.11:g.2394966G>A	TOPMed,gnomAD
MNT	Q99583	p.Gln189SerPheSerTerUnkUnk	COSM1381561	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2394963G>-	NCI-TCGA Cosmic
MNT	Q99583	p.Gln190His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2394958C>A	NCI-TCGA
MNT	Q99583	p.Pro191Leu	rs1225520687	missense variant	-	NC_000017.11:g.2394956G>A	TOPMed,gnomAD
MNT	Q99583	p.Pro191Ala	rs775282908	missense variant	-	NC_000017.11:g.2394957G>C	ExAC,gnomAD
MNT	Q99583	p.Pro191Ser	rs775282908	missense variant	-	NC_000017.11:g.2394957G>A	ExAC,gnomAD
MNT	Q99583	p.Pro192Leu	rs773728070	missense variant	-	NC_000017.11:g.2394953G>A	ExAC,gnomAD
MNT	Q99583	p.Pro192Ser	rs1302098325	missense variant	-	NC_000017.11:g.2394954G>A	TOPMed,gnomAD
MNT	Q99583	p.Pro193Leu	rs914291494	missense variant	-	NC_000017.11:g.2394950G>A	TOPMed,gnomAD
MNT	Q99583	p.Pro194Ser	rs1372870188	missense variant	-	NC_000017.11:g.2394948G>A	gnomAD
MNT	Q99583	p.Thr195Met	rs935556921	missense variant	-	NC_000017.11:g.2394944G>A	TOPMed
MNT	Q99583	p.Gly197Glu	rs747176593	missense variant	-	NC_000017.11:g.2394938C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr198Ile	rs780280823	missense variant	-	NC_000017.11:g.2394935G>A	ExAC,gnomAD
MNT	Q99583	p.Thr198Ser	rs780280823	missense variant	-	NC_000017.11:g.2394935G>C	ExAC,gnomAD
MNT	Q99583	p.Leu199Val	rs758176205	missense variant	-	NC_000017.11:g.2394933G>C	ExAC,gnomAD
MNT	Q99583	p.Lys200Arg	rs745622475	missense variant	-	NC_000017.11:g.2394929T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala202Val	rs561978070	missense variant	-	NC_000017.11:g.2394923G>A	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala202Thr	rs757125925	missense variant	-	NC_000017.11:g.2394924C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro203Arg	rs755694922	missense variant	-	NC_000017.11:g.2394920G>C	ExAC,gnomAD
MNT	Q99583	p.Pro203Ser	rs763628010	missense variant	-	NC_000017.11:g.2394921G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala204Asp	rs1212302959	missense variant	-	NC_000017.11:g.2394917G>T	gnomAD
MNT	Q99583	p.Glu205Ter	rs868543089	stop gained	-	NC_000017.11:g.2394915C>A	gnomAD
MNT	Q99583	p.Glu205Lys	rs868543089	missense variant	-	NC_000017.11:g.2394915C>T	gnomAD
MNT	Q99583	p.Glu206Ter	COSM976676	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2394912C>A	NCI-TCGA Cosmic
MNT	Q99583	p.Glu206Lys	rs752348085	missense variant	-	NC_000017.11:g.2394912C>T	ExAC,gnomAD
MNT	Q99583	p.Val207Ile	rs1229557362	missense variant	-	NC_000017.11:g.2394909C>T	TOPMed,gnomAD
MNT	Q99583	p.Glu211Asp	rs1418574367	missense variant	-	NC_000017.11:g.2394895T>G	TOPMed
MNT	Q99583	p.Gln212Glu	rs1352657936	missense variant	-	NC_000017.11:g.2394894G>C	gnomAD
MNT	Q99583	p.Gln212Arg	rs542016598	missense variant	-	NC_000017.11:g.2394893T>C	1000Genomes
MNT	Q99583	p.Lys213Arg	rs1305342400	missense variant	-	NC_000017.11:g.2394890T>C	TOPMed,gnomAD
MNT	Q99583	p.Lys214Arg	rs759271173	missense variant	-	NC_000017.11:g.2394887T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro216Leu	rs997830320	missense variant	-	NC_000017.11:g.2394881G>A	TOPMed
MNT	Q99583	p.Pro216Ser	rs765701515	missense variant	-	NC_000017.11:g.2394882G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gly217Arg	rs1159739127	missense variant	-	NC_000017.11:g.2394879C>T	gnomAD
MNT	Q99583	p.Gly217Ala	rs1429292859	missense variant	-	NC_000017.11:g.2394878C>G	TOPMed
MNT	Q99583	p.Gly218Arg	rs191591618	missense variant	-	NC_000017.11:g.2394876C>T	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Gly220Ala	rs577570326	missense variant	-	NC_000017.11:g.2394341C>G	gnomAD
MNT	Q99583	p.Glu223Gln	rs1324238124	missense variant	-	NC_000017.11:g.2394333C>G	gnomAD
MNT	Q99583	p.Val224Ile	rs772257735	missense variant	-	NC_000017.11:g.2394330C>T	ExAC,gnomAD
MNT	Q99583	p.Lys230Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2394312T>G	NCI-TCGA
MNT	Q99583	p.Arg233Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2394152C>A	NCI-TCGA
MNT	Q99583	p.Ala234Thr	rs1469763263	missense variant	-	NC_000017.11:g.2394150C>T	gnomAD
MNT	Q99583	p.Glu238Gln	rs148036617	missense variant	-	NC_000017.11:g.2394138C>G	ESP
MNT	Q99583	p.Glu238Asp	rs373133512	missense variant	-	NC_000017.11:g.2394136C>G	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Cys239Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2394134C>T	NCI-TCGA
MNT	Q99583	p.Glu241Ala	rs546230826	missense variant	-	NC_000017.11:g.2394128T>G	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Glu241Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2394127C>A	NCI-TCGA
MNT	Q99583	p.Thr242Ile	rs143526400	missense variant	-	NC_000017.11:g.2394125G>A	ESP,ExAC,gnomAD
MNT	Q99583	p.Arg245Gln	rs1329740458	missense variant	-	NC_000017.11:g.2394116C>T	gnomAD
MNT	Q99583	p.Arg245Trp	rs1202914577	missense variant	-	NC_000017.11:g.2394117G>A	gnomAD
MNT	Q99583	p.Asn249Lys	rs774980466	missense variant	-	NC_000017.11:g.2394103G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Asn249Ser	rs746979460	missense variant	-	NC_000017.11:g.2394104T>C	ExAC,gnomAD
MNT	Q99583	p.Asp251Asn	rs1449043059	missense variant	-	NC_000017.11:g.2394099C>T	gnomAD
MNT	Q99583	p.Asp252Glu	rs771571803	missense variant	-	NC_000017.11:g.2394094G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Lys254Thr	rs745463558	missense variant	-	NC_000017.11:g.2394089T>G	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Leu258Met	rs781458228	missense variant	-	NC_000017.11:g.2394078G>T	ExAC,gnomAD
MNT	Q99583	p.Ser259Cys	rs1163420172	missense variant	-	NC_000017.11:g.2394075T>A	gnomAD
MNT	Q99583	p.Ser259Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2394075T>G	NCI-TCGA
MNT	Q99583	p.Val260Met	rs752072267	missense variant	-	NC_000017.11:g.2394072C>T	ExAC,gnomAD
MNT	Q99583	p.Arg262Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2394065C>A	NCI-TCGA
MNT	Q99583	p.Ala264Thr	rs1316052487	missense variant	-	NC_000017.11:g.2394060C>T	gnomAD
MNT	Q99583	p.Leu265Arg	rs750634463	missense variant	-	NC_000017.11:g.2394056A>C	ExAC,gnomAD
MNT	Q99583	p.Arg266Leu	rs1361825903	missense variant	-	NC_000017.11:g.2394053C>A	gnomAD
MNT	Q99583	p.Ser270Phe	rs779195971	missense variant	-	NC_000017.11:g.2388048G>A	ExAC,gnomAD
MNT	Q99583	p.Arg273Lys	rs1253350413	missense variant	-	NC_000017.11:g.2388039C>T	gnomAD
MNT	Q99583	p.Lys276Asn	rs185455119	missense variant	-	NC_000017.11:g.2388029C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Tyr278Cys	rs1264226196	missense variant	-	NC_000017.11:g.2388024T>C	gnomAD
MNT	Q99583	p.Glu281Lys	rs1343968250	missense variant	-	NC_000017.11:g.2388016C>T	gnomAD
MNT	Q99583	p.Glu283Gln	COSM1479339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2388010C>G	NCI-TCGA Cosmic
MNT	Q99583	p.Arg284Leu	rs376612601	missense variant	-	NC_000017.11:g.2388006C>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg284Gln	rs376612601	missense variant	-	NC_000017.11:g.2388006C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg284Trp	rs866017809	missense variant	-	NC_000017.11:g.2388007G>A	TOPMed,gnomAD
MNT	Q99583	p.Arg287His	rs1178431011	missense variant	-	NC_000017.11:g.2387997C>T	gnomAD
MNT	Q99583	p.Arg287Cys	rs149297090	missense variant	-	NC_000017.11:g.2387998G>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Glu288Asp	rs1355006774	missense variant	-	NC_000017.11:g.2387993C>G	TOPMed,gnomAD
MNT	Q99583	p.Ile290Thr	rs759517457	missense variant	-	NC_000017.11:g.2387988A>G	ExAC,gnomAD
MNT	Q99583	p.Ile290Met	rs1428293775	missense variant	-	NC_000017.11:g.2387987A>C	TOPMed,gnomAD
MNT	Q99583	p.Thr292Met	rs373443692	missense variant	-	NC_000017.11:g.2387982G>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gln294Leu	rs1252922755	missense variant	-	NC_000017.11:g.2387976T>A	gnomAD
MNT	Q99583	p.Ala297Val	rs1175704026	missense variant	-	NC_000017.11:g.2387967G>A	gnomAD
MNT	Q99583	p.Ala297Thr	rs1206075526	missense variant	-	NC_000017.11:g.2387968C>T	TOPMed
MNT	Q99583	p.Glu298Lys	rs1261681971	missense variant	-	NC_000017.11:g.2387965C>T	TOPMed
MNT	Q99583	p.Glu302Lys	rs556665422	missense variant	-	NC_000017.11:g.2387953C>T	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Met307Leu	rs537174910	missense variant	-	NC_000017.11:g.2387938T>G	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Val309Ile	rs138666309	missense variant	-	NC_000017.11:g.2387932C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Leu310Pro	rs1480736235	missense variant	-	NC_000017.11:g.2387928A>G	TOPMed
MNT	Q99583	p.Glu311Asp	rs868844457	missense variant	-	NC_000017.11:g.2387924C>A	TOPMed
MNT	Q99583	p.Asp313Gly	rs1382824678	missense variant	-	NC_000017.11:g.2387919T>C	gnomAD
MNT	Q99583	p.Arg314His	rs369150700	missense variant	-	NC_000017.11:g.2387916C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg314Cys	rs1449886421	missense variant	-	NC_000017.11:g.2387917G>A	gnomAD
MNT	Q99583	p.Arg314Leu	rs369150700	missense variant	-	NC_000017.11:g.2387916C>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Val315Met	rs757301365	missense variant	-	NC_000017.11:g.2387914C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg317Gln	rs756364459	missense variant	-	NC_000017.11:g.2387907C>T	ExAC,gnomAD
MNT	Q99583	p.Arg317Trp	rs201504054	missense variant	-	NC_000017.11:g.2387908G>A	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Gln318Glu	rs752463787	missense variant	-	NC_000017.11:g.2387905G>C	ExAC,gnomAD
MNT	Q99583	p.Thr319Met	rs202042731	missense variant	-	NC_000017.11:g.2387901G>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr319Arg	rs202042731	missense variant	-	NC_000017.11:g.2387901G>C	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gln321His	rs1206249316	missense variant	-	NC_000017.11:g.2387894C>G	gnomAD
MNT	Q99583	p.Gln321Lys	rs751500365	missense variant	-	NC_000017.11:g.2387896G>T	ExAC,gnomAD
MNT	Q99583	p.Pro322Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387892G>A	NCI-TCGA
MNT	Q99583	p.Glu323Val	rs1259360308	missense variant	-	NC_000017.11:g.2387889T>A	gnomAD
MNT	Q99583	p.Ala327Val	rs1237831156	missense variant	-	NC_000017.11:g.2387877G>A	gnomAD
MNT	Q99583	p.Thr329Pro	rs772821045	missense variant	-	NC_000017.11:g.2387872T>G	ExAC,gnomAD
MNT	Q99583	p.Ser330Pro	rs199800035	missense variant	-	NC_000017.11:g.2387869A>G	gnomAD
MNT	Q99583	p.Ser330Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387868G>C	NCI-TCGA
MNT	Q99583	p.Thr331Pro	rs1318819755	missense variant	-	NC_000017.11:g.2387866T>G	gnomAD
MNT	Q99583	p.Ala332Thr	rs1382456632	missense variant	-	NC_000017.11:g.2387863C>T	gnomAD
MNT	Q99583	p.Glu336Ala	rs767947393	missense variant	-	NC_000017.11:g.2387643T>G	ExAC,gnomAD
MNT	Q99583	p.Asp337Glu	rs760006772	missense variant	-	NC_000017.11:g.2387639G>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Asn338Ser	rs559402666	missense variant	-	NC_000017.11:g.2387637T>C	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ile339Met	rs771316978	missense variant	-	NC_000017.11:g.2387633T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Asp340Asn	rs749860604	missense variant	-	NC_000017.11:g.2387632C>T	ExAC,gnomAD
MNT	Q99583	p.Glu341Lys	rs769865972	missense variant	-	NC_000017.11:g.2387629C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Asp342Tyr	rs748311503	missense variant	-	NC_000017.11:g.2387626C>A	ExAC,gnomAD
MNT	Q99583	p.Asp342Glu	rs1020635128	missense variant	-	NC_000017.11:g.2387624A>T	TOPMed,gnomAD
MNT	Q99583	p.Glu344Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387620C>T	NCI-TCGA
MNT	Q99583	p.Glu345Lys	rs1404152617	missense variant	-	NC_000017.11:g.2387617C>T	gnomAD
MNT	Q99583	p.Asp346Asn	rs781414527	missense variant	-	NC_000017.11:g.2387614C>T	ExAC,gnomAD
MNT	Q99583	p.Arg347Gln	rs755234076	missense variant	-	NC_000017.11:g.2387610C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg347Trp	rs1050800917	missense variant	-	NC_000017.11:g.2387611G>A	TOPMed,gnomAD
MNT	Q99583	p.Arg347Gly	rs1050800917	missense variant	-	NC_000017.11:g.2387611G>C	TOPMed,gnomAD
MNT	Q99583	p.Ala348Val	rs146563186	missense variant	-	NC_000017.11:g.2387607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala348Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387608C>T	NCI-TCGA
MNT	Q99583	p.Gly349Asp	rs1470606946	missense variant	-	NC_000017.11:g.2387604C>T	gnomAD
MNT	Q99583	p.Gly349Val	rs1470606946	missense variant	-	NC_000017.11:g.2387604C>A	gnomAD
MNT	Q99583	p.Gly351Ser	rs368541557	missense variant	-	NC_000017.11:g.2387599C>T	ESP,ExAC,gnomAD
MNT	Q99583	p.Pro352Ala	rs1233092006	missense variant	-	NC_000017.11:g.2387596G>C	gnomAD
MNT	Q99583	p.Pro353Ser	rs756853458	missense variant	-	NC_000017.11:g.2387593G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg358Pro	rs563339380	missense variant	-	NC_000017.11:g.2387577C>G	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg358His	rs563339380	missense variant	-	NC_000017.11:g.2387577C>T	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg358Gly	rs763804209	missense variant	-	NC_000017.11:g.2387578G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Arg358Cys	rs763804209	missense variant	-	NC_000017.11:g.2387578G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro359Leu	rs201792632	missense variant	-	NC_000017.11:g.2387574G>A	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.Gln360His	rs763301066	missense variant	-	NC_000017.11:g.2387570C>G	ExAC,gnomAD
MNT	Q99583	p.Pro361Leu	rs773783155	missense variant	-	NC_000017.11:g.2387568G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro361Ser	COSM3515205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387569G>A	NCI-TCGA Cosmic
MNT	Q99583	p.Leu363Pro	rs1334015395	missense variant	-	NC_000017.11:g.2387562A>G	gnomAD
MNT	Q99583	p.Leu364Pro	rs769815832	missense variant	-	NC_000017.11:g.2387559A>G	ExAC,gnomAD
MNT	Q99583	p.Lys365Thr	rs140963967	missense variant	-	NC_000017.11:g.2387556T>G	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr367Ile	rs776740717	missense variant	-	NC_000017.11:g.2387550G>A	ExAC,gnomAD
MNT	Q99583	p.Pro370Leu	rs771916294	missense variant	-	NC_000017.11:g.2387541G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro370Ala	rs779650100	missense variant	-	NC_000017.11:g.2387542G>C	ExAC,gnomAD
MNT	Q99583	p.Pro370Arg	rs771916294	missense variant	-	NC_000017.11:g.2387541G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro370His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387541G>T	NCI-TCGA
MNT	Q99583	p.Pro371His	rs779028423	missense variant	-	NC_000017.11:g.2387538G>T	ExAC,gnomAD
MNT	Q99583	p.Pro371Ser	rs1379344508	missense variant	-	NC_000017.11:g.2387539G>A	TOPMed,gnomAD
MNT	Q99583	p.Pro371Arg	rs779028423	missense variant	-	NC_000017.11:g.2387538G>C	ExAC,gnomAD
MNT	Q99583	p.Ser372AlaPheSerTerUnkUnk	COSM2799271	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2387537G>-	NCI-TCGA Cosmic
MNT	Q99583	p.Ser372Gly	rs1241195899	missense variant	-	NC_000017.11:g.2387536T>C	gnomAD
MNT	Q99583	p.Ser372Thr	rs1209349964	missense variant	-	NC_000017.11:g.2387535C>G	gnomAD
MNT	Q99583	p.Thr374Ile	rs777481784	missense variant	-	NC_000017.11:g.2387529G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr374Pro	rs753373231	missense variant	-	NC_000017.11:g.2387530T>G	ExAC,gnomAD
MNT	Q99583	p.Pro375Ser	rs755714825	missense variant	-	NC_000017.11:g.2387527G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro375Leu	rs752397925	missense variant	-	NC_000017.11:g.2387526G>A	ExAC,gnomAD
MNT	Q99583	p.Ala376Val	rs1246793932	missense variant	-	NC_000017.11:g.2387523G>A	TOPMed,gnomAD
MNT	Q99583	p.Pro379Arg	rs1346120774	missense variant	-	NC_000017.11:g.2387514G>C	gnomAD
MNT	Q99583	p.His381Gln	rs929461157	missense variant	-	NC_000017.11:g.2387507G>T	TOPMed
MNT	Q99583	p.His381Leu	rs1316351159	missense variant	-	NC_000017.11:g.2387508T>A	TOPMed
MNT	Q99583	p.Pro382Ala	rs750888578	missense variant	-	NC_000017.11:g.2387506G>C	ExAC,gnomAD
MNT	Q99583	p.Pro382Ser	rs750888578	missense variant	-	NC_000017.11:g.2387506G>A	ExAC,gnomAD
MNT	Q99583	p.Pro384Ser	rs375958114	missense variant	-	NC_000017.11:g.2387500G>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.His385Arg	rs762365176	missense variant	-	NC_000017.11:g.2387496T>C	ExAC,gnomAD
MNT	Q99583	p.His385Pro	rs762365176	missense variant	-	NC_000017.11:g.2387496T>G	ExAC,gnomAD
MNT	Q99583	p.Pro386Ser	rs776689513	missense variant	-	NC_000017.11:g.2387494G>A	ExAC,gnomAD
MNT	Q99583	p.Pro386Leu	rs768787755	missense variant	-	NC_000017.11:g.2387493G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.His387Tyr	rs151061793	missense variant	-	NC_000017.11:g.2387491G>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.His387ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.2387491G>-	NCI-TCGA
MNT	Q99583	p.Val389Met	rs771729445	missense variant	-	NC_000017.11:g.2387485C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala390Val	rs1206479282	missense variant	-	NC_000017.11:g.2387481G>A	TOPMed
MNT	Q99583	p.Ala390Pro	rs1486010014	missense variant	-	NC_000017.11:g.2387482C>G	TOPMed
MNT	Q99583	p.Leu391Pro	rs1259076973	missense variant	-	NC_000017.11:g.2387478A>G	TOPMed
MNT	Q99583	p.Pro393Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387472G>A	NCI-TCGA
MNT	Q99583	p.Ala394Val	rs539260627	missense variant	-	NC_000017.11:g.2387469G>A	1000Genomes,ExAC,gnomAD
MNT	Q99583	p.His395Pro	rs770976414	missense variant	-	NC_000017.11:g.2387466T>G	ExAC,gnomAD
MNT	Q99583	p.Val398Met	rs373932523	missense variant	-	NC_000017.11:g.2387458C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Val398Ala	rs1479731845	missense variant	-	NC_000017.11:g.2387457A>G	TOPMed
MNT	Q99583	p.Gln399His	rs752242178	missense variant	-	NC_000017.11:g.2387453C>A	ExAC,gnomAD
MNT	Q99583	p.Gln401His	rs780928098	missense variant	-	NC_000017.11:g.2387447C>G	ExAC,gnomAD
MNT	Q99583	p.Gln404Lys	rs1340305450	missense variant	-	NC_000017.11:g.2387440G>T	gnomAD
MNT	Q99583	p.Lys406Thr	rs1364700432	missense variant	-	NC_000017.11:g.2387433T>G	TOPMed
MNT	Q99583	p.Thr407Ile	rs754636674	missense variant	-	NC_000017.11:g.2387430G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr407Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387431T>A	NCI-TCGA
MNT	Q99583	p.Pro408Leu	rs1163434037	missense variant	-	NC_000017.11:g.2387427G>A	gnomAD
MNT	Q99583	p.Pro410Leu	rs1410096147	missense variant	-	NC_000017.11:g.2387421G>A	gnomAD
MNT	Q99583	p.Ala411Thr	rs762242404	missense variant	-	NC_000017.11:g.2387419C>T	ExAC,gnomAD
MNT	Q99583	p.Ala411Pro	rs762242404	missense variant	-	NC_000017.11:g.2387419C>G	ExAC,gnomAD
MNT	Q99583	p.Pro412Leu	rs373155746	missense variant	-	NC_000017.11:g.2387415G>A	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro413Leu	rs956522729	missense variant	-	NC_000017.11:g.2387412G>A	TOPMed
MNT	Q99583	p.Pro413Ser	rs1477338624	missense variant	-	NC_000017.11:g.2387413G>A	gnomAD
MNT	Q99583	p.Pro414Leu	rs764033932	missense variant	-	NC_000017.11:g.2387409G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro416Leu	rs775476651	missense variant	-	NC_000017.11:g.2387403G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro419Leu	rs1220913349	missense variant	-	NC_000017.11:g.2387394G>A	gnomAD
MNT	Q99583	p.Ala420Thr	rs1308224185	missense variant	-	NC_000017.11:g.2387392C>T	gnomAD
MNT	Q99583	p.Gln421Glu	rs1275645370	missense variant	-	NC_000017.11:g.2387389G>C	gnomAD
MNT	Q99583	p.Thr422Ser	rs1217352995	missense variant	-	NC_000017.11:g.2387386T>A	TOPMed,gnomAD
MNT	Q99583	p.Val424Leu	rs1352514357	missense variant	-	NC_000017.11:g.2387380C>G	TOPMed
MNT	Q99583	p.Pro425Ser	rs759892069	missense variant	-	NC_000017.11:g.2387377G>A	ExAC,gnomAD
MNT	Q99583	p.Pro425Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387376G>T	NCI-TCGA
MNT	Q99583	p.Ala426Val	rs1270379357	missense variant	-	NC_000017.11:g.2387373G>A	TOPMed
MNT	Q99583	p.Ala426Thr	rs1407193313	missense variant	-	NC_000017.11:g.2387374C>T	gnomAD
MNT	Q99583	p.Pro427Ser	rs1343235609	missense variant	-	NC_000017.11:g.2387371G>A	gnomAD
MNT	Q99583	p.Ala432Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387356C>T	NCI-TCGA
MNT	Q99583	p.Ala432Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387355G>A	NCI-TCGA
MNT	Q99583	p.Thr433Met	rs749177823	missense variant	-	NC_000017.11:g.2387352G>A	ExAC,gnomAD
MNT	Q99583	p.Gly435Val	rs1421183847	missense variant	-	NC_000017.11:g.2387346C>A	TOPMed
MNT	Q99583	p.Gly435Glu	rs1421183847	missense variant	-	NC_000017.11:g.2387346C>T	TOPMed
MNT	Q99583	p.Gly436Ser	rs773302165	missense variant	-	NC_000017.11:g.2387344C>T	ExAC,gnomAD
MNT	Q99583	p.Gly436Cys	rs773302165	missense variant	-	NC_000017.11:g.2387344C>A	ExAC,gnomAD
MNT	Q99583	p.Gly436ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.2387343C>-	NCI-TCGA
MNT	Q99583	p.Ser438Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387337G>A	NCI-TCGA
MNT	Q99583	p.Thr439Met	rs1190837157	missense variant	-	NC_000017.11:g.2387334G>A	gnomAD
MNT	Q99583	p.Ala442Val	rs1317817255	missense variant	-	NC_000017.11:g.2387325G>A	gnomAD
MNT	Q99583	p.Ala442Thr	rs1196869845	missense variant	-	NC_000017.11:g.2387326C>T	TOPMed,gnomAD
MNT	Q99583	p.His443Gln	rs1225730597	missense variant	-	NC_000017.11:g.2387321G>C	gnomAD
MNT	Q99583	p.His443Tyr	rs1165580367	missense variant	-	NC_000017.11:g.2387323G>A	TOPMed
MNT	Q99583	p.Thr444Ala	rs1363735726	missense variant	-	NC_000017.11:g.2387320T>C	TOPMed
MNT	Q99583	p.Ala445Thr	rs754655838	missense variant	-	NC_000017.11:g.2387317C>T	ExAC,gnomAD
MNT	Q99583	p.Thr446Pro	rs746671975	missense variant	-	NC_000017.11:g.2387314T>G	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr446Ala	rs746671975	missense variant	-	NC_000017.11:g.2387314T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr447Ser	rs1224013410	missense variant	-	NC_000017.11:g.2387310G>C	TOPMed,gnomAD
MNT	Q99583	p.His448Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2387308G>A	NCI-TCGA
MNT	Q99583	p.Ala449Thr	rs757643358	missense variant	-	NC_000017.11:g.2387305C>T	ExAC,gnomAD
MNT	Q99583	p.Ala449Val	rs1445464942	missense variant	-	NC_000017.11:g.2387304G>A	gnomAD
MNT	Q99583	p.Val451Ala	rs1445914246	missense variant	-	NC_000017.11:g.2387298A>G	gnomAD
MNT	Q99583	p.Gln453Arg	rs1406716334	missense variant	-	NC_000017.11:g.2387292T>C	TOPMed,gnomAD
MNT	Q99583	p.Gln453Glu	rs1392983320	missense variant	-	NC_000017.11:g.2387293G>C	TOPMed
MNT	Q99583	p.Thr454Ile	COSM3515204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387289G>A	NCI-TCGA Cosmic
MNT	Q99583	p.Thr454Ala	rs754306472	missense variant	-	NC_000017.11:g.2387290T>C	ExAC,gnomAD
MNT	Q99583	p.Val455Leu	rs201365025	missense variant	-	NC_000017.11:g.2387287C>G	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Val455Met	rs201365025	missense variant	-	NC_000017.11:g.2387287C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Asn456Ser	COSM4064790	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387283T>C	NCI-TCGA Cosmic
MNT	Q99583	p.Val458Ile	rs759763898	missense variant	-	NC_000017.11:g.2387278C>T	ExAC,gnomAD
MNT	Q99583	p.Leu459Pro	rs1486004958	missense variant	-	NC_000017.11:g.2387274A>G	gnomAD
MNT	Q99583	p.Gly461Glu	rs1264599234	missense variant	-	NC_000017.11:g.2387268C>T	gnomAD
MNT	Q99583	p.Gly463Val	rs1176838733	missense variant	-	NC_000017.11:g.2387262C>A	gnomAD
MNT	Q99583	p.Gly464Asp	rs1237910133	missense variant	-	NC_000017.11:g.2387259C>T	TOPMed
MNT	Q99583	p.Gly464Ser	rs376479734	missense variant	-	NC_000017.11:g.2387260C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Lys465Arg	rs772919975	missense variant	-	NC_000017.11:g.2387256T>C	ExAC,gnomAD
MNT	Q99583	p.Ala468Thr	rs769757715	missense variant	-	NC_000017.11:g.2387248C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ile470Leu	rs748101580	missense variant	-	NC_000017.11:g.2387242T>G	ExAC,gnomAD
MNT	Q99583	p.Ile470Val	rs748101580	missense variant	-	NC_000017.11:g.2387242T>C	ExAC,gnomAD
MNT	Q99583	p.Ala471Thr	rs768169705	missense variant	-	NC_000017.11:g.2387239C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala471Gly	rs929519586	missense variant	-	NC_000017.11:g.2387238G>C	TOPMed,gnomAD
MNT	Q99583	p.Pro472Ser	rs746618845	missense variant	-	NC_000017.11:g.2387236G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ser473Leu	rs779716020	missense variant	-	NC_000017.11:g.2387232G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro475Leu	rs1455203166	missense variant	-	NC_000017.11:g.2387226G>A	gnomAD
MNT	Q99583	p.Pro475Ala	rs1289204541	missense variant	-	NC_000017.11:g.2387227G>C	gnomAD
MNT	Q99583	p.Ala478Ser	rs1439100422	missense variant	-	NC_000017.11:g.2387218C>A	gnomAD
MNT	Q99583	p.Ala478Val	rs1385965251	missense variant	-	NC_000017.11:g.2387217G>A	gnomAD
MNT	Q99583	p.Val479Ala	rs1399216372	missense variant	-	NC_000017.11:g.2387214A>G	TOPMed
MNT	Q99583	p.Val479Glu	rs1399216372	missense variant	-	NC_000017.11:g.2387214A>T	TOPMed
MNT	Q99583	p.Val479Leu	rs767573184	missense variant	-	NC_000017.11:g.2387215C>G	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gln480His	rs199768323	missense variant	-	NC_000017.11:g.2387210T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala482Val	rs751790336	missense variant	-	NC_000017.11:g.2387205G>A	ExAC,gnomAD
MNT	Q99583	p.Pro483Ser	rs750228275	missense variant	-	NC_000017.11:g.2387203G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro486His	rs768116563	missense variant	-	NC_000017.11:g.2387193G>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro486Ser	rs776457448	missense variant	-	NC_000017.11:g.2387194G>A	ExAC,gnomAD
MNT	Q99583	p.Pro486Arg	rs768116563	missense variant	-	NC_000017.11:g.2387193G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro487His	COSM4909526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387190G>T	NCI-TCGA Cosmic
MNT	Q99583	p.Pro487Arg	rs1202975870	missense variant	-	NC_000017.11:g.2387190G>C	TOPMed
MNT	Q99583	p.Ile488Val	rs760150673	missense variant	-	NC_000017.11:g.2387188T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.His490Tyr	rs775033754	missense variant	-	NC_000017.11:g.2387182G>A	ExAC,gnomAD
MNT	Q99583	p.His490Arg	rs1461991204	missense variant	-	NC_000017.11:g.2387181T>C	TOPMed
MNT	Q99583	p.Val493Met	rs372107997	missense variant	-	NC_000017.11:g.2387173C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala496Thr	rs1165056005	missense variant	-	NC_000017.11:g.2387164C>T	gnomAD
MNT	Q99583	p.Thr497Ser	rs778130262	missense variant	-	NC_000017.11:g.2387160G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Leu498Phe	rs770065654	missense variant	-	NC_000017.11:g.2387158G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.His500Arg	COSM4064788	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387151T>C	NCI-TCGA Cosmic
MNT	Q99583	p.Gly505Ser	rs748638034	missense variant	-	NC_000017.11:g.2387137C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro512Leu	rs867131859	missense variant	-	NC_000017.11:g.2387115G>A	gnomAD
MNT	Q99583	p.Pro512Gln	rs867131859	missense variant	-	NC_000017.11:g.2387115G>T	gnomAD
MNT	Q99583	p.Pro514Ser	rs1229548287	missense variant	-	NC_000017.11:g.2387110G>A	gnomAD
MNT	Q99583	p.Val515Met	rs780348652	missense variant	-	NC_000017.11:g.2387107C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Val515Leu	rs780348652	missense variant	-	NC_000017.11:g.2387107C>G	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Val517Met	rs758628438	missense variant	-	NC_000017.11:g.2387101C>T	ExAC,gnomAD
MNT	Q99583	p.Ser518Asn	rs1346375788	missense variant	-	NC_000017.11:g.2387097C>T	gnomAD
MNT	Q99583	p.Ile520Met	rs1385084663	missense variant	-	NC_000017.11:g.2387090G>C	TOPMed,gnomAD
MNT	Q99583	p.Ala521Thr	rs750625027	missense variant	-	NC_000017.11:g.2387089C>T	ExAC,gnomAD
MNT	Q99583	p.Ser525Ter	COSM1381558	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.2387076G>T	NCI-TCGA Cosmic
MNT	Q99583	p.Ser525Leu	rs1481005205	missense variant	-	NC_000017.11:g.2387076G>A	TOPMed,gnomAD
MNT	Q99583	p.Ser525Ala	rs1170389844	missense variant	-	NC_000017.11:g.2387077A>C	gnomAD
MNT	Q99583	p.His526Tyr	rs1196317598	missense variant	-	NC_000017.11:g.2387074G>A	gnomAD
MNT	Q99583	p.Val529Gly	rs763999886	missense variant	-	NC_000017.11:g.2387064A>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gly531Arg	rs199839050	missense variant	-	NC_000017.11:g.2387059C>G	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gly531Ser	rs199839050	missense variant	-	NC_000017.11:g.2387059C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr532Met	rs528548579	missense variant	-	NC_000017.11:g.2387055G>A	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Thr532Arg	rs528548579	missense variant	-	NC_000017.11:g.2387055G>C	1000Genomes,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala533Thr	rs61733099	missense variant	-	NC_000017.11:g.2387053C>T	ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gly534Asp	rs1231372785	missense variant	-	NC_000017.11:g.2387049C>T	TOPMed,gnomAD
MNT	Q99583	p.Gly534Cys	COSM296179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2387050C>A	NCI-TCGA Cosmic
MNT	Q99583	p.Gly534Ser	rs769273118	missense variant	-	NC_000017.11:g.2387050C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gly534Val	rs1231372785	missense variant	-	NC_000017.11:g.2387049C>A	TOPMed,gnomAD
MNT	Q99583	p.Gly536Arg	rs1330556824	missense variant	-	NC_000017.11:g.2387044C>T	gnomAD
MNT	Q99583	p.Pro537Ser	rs201293144	missense variant	-	NC_000017.11:g.2387041G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro537Ala	rs201293144	missense variant	-	NC_000017.11:g.2387041G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro537Arg	rs1397653719	missense variant	-	NC_000017.11:g.2387040G>C	TOPMed
MNT	Q99583	p.Pro538Arg	rs750619935	missense variant	-	NC_000017.11:g.2387037G>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro538Leu	rs750619935	missense variant	-	NC_000017.11:g.2387037G>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Pro538Ser	rs375681714	missense variant	-	NC_000017.11:g.2387038G>A	ESP,TOPMed,gnomAD
MNT	Q99583	p.Ala539Thr	rs757551095	missense variant	-	NC_000017.11:g.2387035C>T	ExAC,gnomAD
MNT	Q99583	p.Val541Ile	rs1170403416	missense variant	-	NC_000017.11:g.2387029C>T	gnomAD
MNT	Q99583	p.Met542Ile	rs1364064821	missense variant	-	NC_000017.11:g.2387024C>T	gnomAD
MNT	Q99583	p.Met542Leu	rs1344685852	missense variant	-	NC_000017.11:g.2387026T>A	TOPMed
MNT	Q99583	p.Met542Thr	rs753565230	missense variant	-	NC_000017.11:g.2387025A>G	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Ala543Val	rs1179960747	missense variant	-	NC_000017.11:g.2387022G>A	gnomAD
MNT	Q99583	p.Ala543Thr	rs1027916412	missense variant	-	NC_000017.11:g.2387023C>T	TOPMed
MNT	Q99583	p.Pro545Ser	rs1315336675	missense variant	-	NC_000017.11:g.2387017G>A	TOPMed
MNT	Q99583	p.Pro545Leu	rs1437353675	missense variant	-	NC_000017.11:g.2387016G>A	gnomAD
MNT	Q99583	p.Val547Leu	rs755974200	missense variant	-	NC_000017.11:g.2387011C>A	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Val547Met	rs755974200	missense variant	-	NC_000017.11:g.2387011C>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gly548Arg	rs1199704343	missense variant	-	NC_000017.11:g.2387008C>T	gnomAD
MNT	Q99583	p.Val551Met	rs1242318762	missense variant	-	NC_000017.11:g.2386999C>T	gnomAD
MNT	Q99583	p.Val552Leu	rs1477612236	missense variant	-	NC_000017.11:g.2386996C>G	TOPMed
MNT	Q99583	p.His553Arg	rs766962899	missense variant	-	NC_000017.11:g.2386992T>C	ExAC,TOPMed,gnomAD
MNT	Q99583	p.His554Gln	rs758997137	missense variant	-	NC_000017.11:g.2386988G>T	ExAC,TOPMed,gnomAD
MNT	Q99583	p.Gln560Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.2386972G>A	NCI-TCGA
MNT	Q99583	p.Val562Met	rs1385219467	missense variant	-	NC_000017.11:g.2386966C>T	TOPMed,gnomAD
MNT	Q99583	p.Pro565Leu	rs1379183240	missense variant	-	NC_000017.11:g.2386956G>A	gnomAD
MNT	Q99583	p.Met568Val	rs762724165	missense variant	-	NC_000017.11:g.2386948T>C	ExAC,gnomAD
MNT	Q99583	p.Met568Ile	rs1235716728	missense variant	-	NC_000017.11:g.2386946C>T	gnomAD
MNT	Q99583	p.Met568Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2386946C>A	NCI-TCGA
MNT	Q99583	p.Pro572Ser	rs1447367332	missense variant	-	NC_000017.11:g.2386936G>A	gnomAD
MNT	Q99583	p.Pro572His	rs1286933009	missense variant	-	NC_000017.11:g.2386935G>T	gnomAD
MNT	Q99583	p.Pro575Ser	rs868035885	missense variant	-	NC_000017.11:g.2386927G>A	gnomAD
MNT	Q99583	p.Pro575Leu	rs1285359442	missense variant	-	NC_000017.11:g.2386926G>A	gnomAD
MNT	Q99583	p.Pro575Thr	rs868035885	missense variant	-	NC_000017.11:g.2386927G>T	gnomAD
PITX2	Q99697	p.Glu2Ala	rs1165780730	missense variant	-	NC_000004.12:g.110632994T>G	gnomAD
PITX2	Q99697	p.Thr3Asn	COSM6098673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110632991G>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Cys5Arg	rs200683912	missense variant	-	NC_000004.12:g.110632986A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Cys5Gly	rs200683912	missense variant	-	NC_000004.12:g.110632986A>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Arg6ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.110632982C>-	NCI-TCGA
PITX2	Q99697	p.Arg6Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110632983G>T	NCI-TCGA
PITX2	Q99697	p.Lys7Thr	rs1186590886	missense variant	-	NC_000004.12:g.110632979T>G	gnomAD
PITX2	Q99697	p.Val9Leu	rs1475525896	missense variant	-	NC_000004.12:g.110632974C>G	TOPMed
PITX2	Q99697	p.Val9Ala	rs1252129615	missense variant	-	NC_000004.12:g.110632973A>G	gnomAD
PITX2	Q99697	p.Val9Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110632974C>A	NCI-TCGA
PITX2	Q99697	p.Ser10Thr	rs139906074	missense variant	-	NC_000004.12:g.110632971A>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser10Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110632970G>A	NCI-TCGA
PITX2	Q99697	p.Ala11Val	rs373848340	missense variant	-	NC_000004.12:g.110632967G>A	ESP,ExAC,gnomAD
PITX2	Q99697	p.Ala11Val	rs373848340	missense variant	-	NC_000004.12:g.110632967G>A	NCI-TCGA
PITX2	Q99697	p.Cys12Arg	rs1341809376	missense variant	-	NC_000004.12:g.110632965A>G	gnomAD
PITX2	Q99697	p.Val13Gly	rs374524467	missense variant	-	NC_000004.12:g.110632961A>C	TOPMed,gnomAD
PITX2	Q99697	p.Gln14Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.110632959G>A	NCI-TCGA
PITX2	Q99697	p.Leu15Ser	rs778111934	missense variant	-	NC_000004.12:g.110632955A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gly16Asp	rs1333326474	missense variant	-	NC_000004.12:g.110632480C>T	gnomAD
PITX2	Q99697	p.Val17Leu	rs760317329	missense variant	-	NC_000004.12:g.110632478C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val17Met	rs760317329	missense variant	-	NC_000004.12:g.110632478C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala20Val	RCV000372438	missense variant	-	NC_000004.12:g.110632468G>A	ClinVar
PITX2	Q99697	p.Ala20Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110632468G>T	NCI-TCGA
PITX2	Q99697	p.Ala20Val	rs150684621	missense variant	-	NC_000004.12:g.110632468G>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val22Leu	rs771505272	missense variant	-	NC_000004.12:g.110632463C>G	ExAC,gnomAD
PITX2	Q99697	p.Val22Ile	COSM5865583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110632463C>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Glu23Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110632459T>C	NCI-TCGA
PITX2	Q99697	p.Glu23Lys	rs763204161	missense variant	-	NC_000004.12:g.110632460C>T	ExAC,gnomAD
PITX2	Q99697	p.Ser27Phe	rs201299310	missense variant	-	NC_000004.12:g.110632447G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser27Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110632447G>T	NCI-TCGA
PITX2	Q99697	p.Asp29Tyr	rs770173811	missense variant	-	NC_000004.12:g.110632442C>A	ExAC,gnomAD
PITX2	Q99697	p.Val35Ala	rs748305151	missense variant	-	NC_000004.12:g.110632423A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val35Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110632424C>A	NCI-TCGA
PITX2	Q99697	p.Glu36Gly	rs1179183659	missense variant	-	NC_000004.12:g.110632420T>C	gnomAD
PITX2	Q99697	p.Glu36Lys	rs781408424	missense variant	-	NC_000004.12:g.110632421C>T	ExAC,gnomAD
PITX2	Q99697	p.Thr38Ala	rs753677423	missense variant	-	NC_000004.12:g.110632415T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp39Asn	rs779828091	missense variant	-	NC_000004.12:g.110632412C>T	ExAC,gnomAD
PITX2	Q99697	p.Asp39Tyr	rs779828091	missense variant	-	NC_000004.12:g.110632412C>A	ExAC,gnomAD
PITX2	Q99697	p.Asp39Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110632411T>C	NCI-TCGA
PITX2	Q99697	p.Asp39Glu	rs963550558	missense variant	-	NC_000004.12:g.110632410G>T	gnomAD
PITX2	Q99697	p.Pro41Ala	rs758414076	missense variant	-	NC_000004.12:g.110632406G>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro41Ser	rs758414076	missense variant	-	NC_000004.12:g.110632406G>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro41Leu	rs1405688570	missense variant	-	NC_000004.12:g.110632405G>A	TOPMed
PITX2	Q99697	p.Lys45Arg	rs750353276	missense variant	-	NC_000004.12:g.110632393T>C	ExAC,gnomAD
PITX2	Q99697	p.Glu46Ala	rs1420879854	missense variant	-	NC_000004.12:g.110632390T>G	TOPMed
PITX2	Q99697	p.Ala48Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110632385C>T	NCI-TCGA
PITX2	Q99697	p.Ser49Asn	COSM1050088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110632381C>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Ser50Arg	rs1159157912	missense variant	-	NC_000004.12:g.110632379T>G	TOPMed
PITX2	Q99697	p.Lys51Glu	rs908902146	missense variant	-	NC_000004.12:g.110632376T>C	TOPMed
PITX2	Q99697	p.Lys51Ter	rs908902146	stop gained	-	NC_000004.12:g.110632376T>A	TOPMed
PITX2	Q99697	p.His57Gln	rs753524953	missense variant	-	NC_000004.12:g.110632356A>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro58Ala	rs763902543	missense variant	-	NC_000004.12:g.110632355G>C	ExAC,gnomAD
PITX2	Q99697	p.Phe58Leu	VAR_082833	Missense	Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]	-	UniProt
PITX2	Q99697	p.Gly59Ala	rs1238878083	missense variant	-	NC_000004.12:g.110632351C>G	gnomAD
PITX2	Q99697	p.Ala60Ser	rs1278211311	missense variant	-	NC_000004.12:g.110632349C>A	TOPMed
PITX2	Q99697	p.Asn61Ile	rs766958445	missense variant	-	NC_000004.12:g.110632345T>A	ExAC,gnomAD
PITX2	Q99697	p.Lys65Arg	rs909606889	missense variant	-	NC_000004.12:g.110621360T>C	TOPMed,gnomAD
PITX2	Q99697	p.Lys65Arg	RCV000591120	missense variant	-	NC_000004.12:g.110621360T>C	ClinVar
PITX2	Q99697	p.Gln67Leu	rs753935193	missense variant	-	NC_000004.12:g.110621354T>A	ExAC,gnomAD
PITX2	Q99697	p.Gln67Pro	rs753935193	missense variant	-	NC_000004.12:g.110621354T>G	ExAC,gnomAD
PITX2	Q99697	p.Gln68Arg	rs201628949	missense variant	-	NC_000004.12:g.110621351T>C	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln68Pro	rs201628949	missense variant	-	NC_000004.12:g.110621351T>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln68Pro	RCV000304723	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000300585	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000393111	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000344354	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000264197	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000355389	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000359478	missense variant	Cataract	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Lys70Asn	rs1197059338	missense variant	-	NC_000004.12:g.110621344C>G	TOPMed
PITX2	Q99697	p.Asn71Lys	rs755404910	missense variant	-	NC_000004.12:g.110621341A>T	ExAC,gnomAD
PITX2	Q99697	p.Asn71His	rs781343571	missense variant	-	NC_000004.12:g.110621343T>G	ExAC,gnomAD
PITX2	Q99697	p.Asp73Glu	rs1326661822	missense variant	-	NC_000004.12:g.110621335G>C	gnomAD
PITX2	Q99697	p.Val74Met	rs535881495	missense variant	-	NC_000004.12:g.110621334C>T	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Val74Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110621333A>G	NCI-TCGA
PITX2	Q99697	p.Gly75Asp	rs766774222	missense variant	-	NC_000004.12:g.110621330C>T	ExAC,gnomAD
PITX2	Q99697	p.Ala76Val	rs763095137	missense variant	-	NC_000004.12:g.110621327G>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala76Gly	rs763095137	missense variant	-	NC_000004.12:g.110621327G>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Glu77Lys	rs765382079	missense variant	-	NC_000004.12:g.110621325C>T	ExAC,gnomAD
PITX2	Q99697	p.Asp78Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110621321T>A	NCI-TCGA
PITX2	Q99697	p.Pro79Gln	rs1231505078	missense variant	-	NC_000004.12:g.110621318G>T	gnomAD
PITX2	Q99697	p.Pro79Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110621318G>A	NCI-TCGA
PITX2	Q99697	p.Lys82Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110621308C>G	NCI-TCGA
PITX2	Q99697	p.Arg84Leu	rs28936409	missense variant	-	NC_000004.12:g.110621303C>A	ExAC,gnomAD
PITX2	Q99697	p.Arg84Pro	rs28936409	missense variant	-	NC_000004.12:g.110621303C>G	ExAC,gnomAD
PITX2	Q99697	p.Arg84Gln	rs28936409	missense variant	-	NC_000004.12:g.110621303C>T	ExAC,gnomAD
PITX2	Q99697	p.Arg84Trp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110621304G>A	NCI-TCGA
PITX2	Q99697	p.Gln85Arg	rs1434250665	missense variant	-	NC_000004.12:g.110621300T>C	TOPMed
PITX2	Q99697	p.Arg86Lys	rs1177438249	missense variant	-	NC_000004.12:g.110621297C>T	gnomAD
PITX2	Q99697	p.Arg87Trp	rs1202334475	missense variant	-	NC_000004.12:g.110621295G>A	gnomAD
PITX2	Q99697	p.Thr93Pro	rs760524995	missense variant	-	NC_000004.12:g.110621277T>G	ExAC,gnomAD
PITX2	Q99697	p.Thr93Ile	COSM3599167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110621276G>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Gln95Ter	COSM1220688	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.110621271G>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Gln96Ter	rs1553922901	stop gained	-	NC_000004.12:g.110621268G>A	-
PITX2	Q99697	p.Gln96Ter	RCV000584539	nonsense	Rieger syndrome (RIEG)	NC_000004.12:g.110621268G>A	ClinVar
PITX2	Q99697	p.Glu99Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.110621259C>A	NCI-TCGA
PITX2	Q99697	p.Leu100Gln	rs104893857	missense variant	-	NC_000004.12:g.110621255A>T	-
PITX2	Q99697	p.Leu100Gln	rs104893857	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt,dbSNP
PITX2	Q99697	p.Leu100Gln	VAR_003763	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt
PITX2	Q99697	p.Leu100Gln	RCV000008551	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621255A>T	ClinVar
PITX2	Q99697	p.Arg106Ser	rs868726797	missense variant	-	NC_000004.12:g.110621236C>A	TOPMed
PITX2	Q99697	p.Arg108His	rs104893862	missense variant	Ring dermoid of cornea (rdc)	NC_000004.12:g.110621231C>T	-
PITX2	Q99697	p.Arg108His	rs104893862	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt,dbSNP
PITX2	Q99697	p.Arg108His	VAR_035027	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt
PITX2	Q99697	p.Arg108Ter	RCV000416516	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621213_110621234del	ClinVar
PITX2	Q99697	p.Arg108His	RCV000008562	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	ClinVar
PITX2	Q99697	p.Pro110Leu	RCV000416527	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621225G>A	ClinVar
PITX2	Q99697	p.Pro110Leu	rs1057519484	missense variant	-	NC_000004.12:g.110621225G>A	-
PITX2	Q99697	p.Pro110Arg	VAR_058736	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Thr114Ala	rs104893858	missense variant	-	NC_000004.12:g.110621214T>C	gnomAD
PITX2	Q99697	p.Thr114Pro	rs104893858	missense variant	-	NC_000004.12:g.110621214T>G	gnomAD
PITX2	Q99697	p.Thr114Pro	rs104893858	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt,dbSNP
PITX2	Q99697	p.Thr114Pro	VAR_003764	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt
PITX2	Q99697	p.Thr114Ter	RCV000543429	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214dup	ClinVar
PITX2	Q99697	p.Thr114Pro	RCV000008553	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214T>G	ClinVar
PITX2	Q99697	p.Arg115His	rs104893861	missense variant	-	NC_000004.12:g.110621210C>T	-
PITX2	Q99697	p.Arg115His	rs104893861	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt,dbSNP
PITX2	Q99697	p.Arg115His	VAR_003765	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt
PITX2	Q99697	p.Arg115His	RCV000008558	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621210C>T	ClinVar
PITX2	Q99697	p.Arg115His	RCV000271871	missense variant	-	NC_000004.12:g.110621210C>T	ClinVar
PITX2	Q99697	p.Glu116Lys	rs1335923324	missense variant	-	NC_000004.12:g.110621208C>T	TOPMed,gnomAD
PITX2	Q99697	p.Glu117Gln	COSM1050083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110621205C>G	NCI-TCGA Cosmic
PITX2	Q99697	p.Glu117Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.110621205C>A	NCI-TCGA
PITX2	Q99697	p.Glu117Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110621205C>T	NCI-TCGA
PITX2	Q99697	p.Ile118Val	COSM3824960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110621202T>C	NCI-TCGA Cosmic
PITX2	Q99697	p.Ala119Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110621199C>A	NCI-TCGA
PITX2	Q99697	p.Val120Leu	rs1460126633	missense variant	-	NC_000004.12:g.110621196C>G	TOPMed
PITX2	Q99697	p.Trp121Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110621191C>A	NCI-TCGA
PITX2	Q99697	p.Thr122Asn	rs1422020095	missense variant	-	NC_000004.12:g.110621189G>T	gnomAD
PITX2	Q99697	p.Thr125Met	COSM731962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110621180G>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Glu126Lys	rs1450441031	missense variant	-	NC_000004.12:g.110621178C>T	TOPMed,gnomAD
PITX2	Q99697	p.Arg128Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110621171C>T	NCI-TCGA
PITX2	Q99697	p.Arg128_Lys134del	VAR_035028	inframe_deletion	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Val129Ile	rs121909249	missense variant	-	NC_000004.12:g.110621169C>T	gnomAD
PITX2	Q99697	p.Val129Leu	rs121909249	missense variant	-	NC_000004.12:g.110621169C>G	gnomAD
PITX2	Q99697	p.Val129Leu	rs121909249	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt,dbSNP
PITX2	Q99697	p.Val129Leu	VAR_035029	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt
PITX2	Q99697	p.Val129Leu	RCV000008560	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621169C>G	ClinVar
PITX2	Q99697	p.Arg130Trp	rs121909248	missense variant	-	NC_000004.12:g.110621166G>A	gnomAD
PITX2	Q99697	p.Arg130Trp	rs121909248	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt,dbSNP
PITX2	Q99697	p.Arg130Trp	VAR_003762	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt
PITX2	Q99697	p.Arg130Trp	RCV000008557	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621166G>A	ClinVar
PITX2	Q99697	p.Trp132Leu	rs772800095	missense variant	-	NC_000004.12:g.110618684C>A	ExAC,gnomAD
PITX2	Q99697	p.Lys134Glu	rs387906810	missense variant	-	NC_000004.12:g.110618679T>C	-
PITX2	Q99697	p.Lys134Glu	rs387906810	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt,dbSNP
PITX2	Q99697	p.Lys134Glu	VAR_058737	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt
PITX2	Q99697	p.Lys134Glu	RCV000023116	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618679T>C	ClinVar
PITX2	Q99697	p.Arg136Pro	COSM4399892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618672C>G	NCI-TCGA Cosmic
PITX2	Q99697	p.Arg136Cys	COSM4121380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618673G>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Arg136His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618672C>T	NCI-TCGA
PITX2	Q99697	p.Arg136Cys	VAR_058738	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Arg137Gly	rs1057519485	missense variant	-	NC_000004.12:g.110618670G>C	-
PITX2	Q99697	p.Arg137Pro	rs104893859	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt,dbSNP
PITX2	Q99697	p.Arg137Pro	VAR_003766	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt
PITX2	Q99697	p.Arg137Gln	RCV000179024	missense variant	-	NC_000004.12:g.110618669C>T	ClinVar
PITX2	Q99697	p.Arg137Trp	COSM3599159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618670G>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Arg137Pro	RCV000008555	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618669C>G	ClinVar
PITX2	Q99697	p.Arg137Gly	RCV000416552	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618670G>C	ClinVar
PITX2	Q99697	p.Ala138Pro	rs1057519486	missense variant	-	NC_000004.12:g.110618667C>G	-
PITX2	Q99697	p.Ala138Pro	RCV000416513	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618667C>G	ClinVar
PITX2	Q99697	p.Arg141Lys	rs747454924	missense variant	-	NC_000004.12:g.110618657C>T	ExAC,gnomAD
PITX2	Q99697	p.Lys142Arg	COSM4121378	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618654T>C	NCI-TCGA Cosmic
PITX2	Q99697	p.Arg145Leu	rs772313984	missense variant	-	NC_000004.12:g.110618645C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Arg145Cys	COSM1220686	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618646G>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Ala149Thr	rs1400360888	missense variant	-	NC_000004.12:g.110618634C>T	gnomAD
PITX2	Q99697	p.Glu150Lys	COSM1050081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618631C>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Leu151Gln	COSM4121376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618627A>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Leu151Val	VAR_058739	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Lys153Glu	COSM3824958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618622T>C	NCI-TCGA Cosmic
PITX2	Q99697	p.Asn154Thr	VAR_058740	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Gly155Asp	COSM3916971	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618615C>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Gly155Arg	rs1487199526	missense variant	-	NC_000004.12:g.110618616C>G	TOPMed
PITX2	Q99697	p.Phe156Cys	rs777760630	missense variant	-	NC_000004.12:g.110618612A>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gly157Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618610C>T	NCI-TCGA
PITX2	Q99697	p.Pro158Thr	rs1184574850	missense variant	-	NC_000004.12:g.110618607G>T	gnomAD
PITX2	Q99697	p.Asn161Ser	rs754698054	missense variant	-	NC_000004.12:g.110618597T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gly162Arg	rs1462724749	missense variant	-	NC_000004.12:g.110618595C>T	gnomAD
PITX2	Q99697	p.Met164Ile	rs1279512187	missense variant	-	NC_000004.12:g.110618587C>T	gnomAD
PITX2	Q99697	p.Tyr167Cys	rs751418961	missense variant	-	NC_000004.12:g.110618579T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Tyr167Ter	COSM447238	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.110618578G>C	NCI-TCGA Cosmic
PITX2	Q99697	p.Asp168Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618577C>T	NCI-TCGA
PITX2	Q99697	p.Asp169Gly	rs1277602218	missense variant	-	NC_000004.12:g.110618573T>C	TOPMed,gnomAD
PITX2	Q99697	p.Asp169Val	COSM1050077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618573T>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Met170Val	rs1242188090	missense variant	-	NC_000004.12:g.110618571T>C	TOPMed,gnomAD
PITX2	Q99697	p.Met170Leu	rs1242188090	missense variant	-	NC_000004.12:g.110618571T>G	TOPMed,gnomAD
PITX2	Q99697	p.Met170Thr	rs766110695	missense variant	-	NC_000004.12:g.110618570A>G	ExAC,gnomAD
PITX2	Q99697	p.Met170Ile	rs1314320002	missense variant	-	NC_000004.12:g.110618569C>G	gnomAD
PITX2	Q99697	p.Pro172Ser	rs527498517	missense variant	-	NC_000004.12:g.110618565G>A	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Pro172Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618564G>T	NCI-TCGA
PITX2	Q99697	p.Ser175Cys	rs1398320537	missense variant	-	NC_000004.12:g.110618555G>C	TOPMed
PITX2	Q99697	p.Tyr176Cys	rs750107133	missense variant	-	NC_000004.12:g.110618552T>C	ExAC,gnomAD
PITX2	Q99697	p.Asn178Ser	rs972015382	missense variant	-	NC_000004.12:g.110618546T>C	TOPMed,gnomAD
PITX2	Q99697	p.Asn178Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618545G>T	NCI-TCGA
PITX2	Q99697	p.Trp179Ter	rs104893860	stop gained	-	NC_000004.12:g.110618542C>T	-
PITX2	Q99697	p.Trp179Ter	RCV000008556	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618542C>T	ClinVar
PITX2	Q99697	p.Ala181Ser	rs77144743	missense variant	-	NC_000004.12:g.110618538C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala181Thr	RCV000317910	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000266378	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000372306	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	rs77144743	missense variant	-	NC_000004.12:g.110618538C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala181Thr	RCV000321309	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000360966	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000262690	missense variant	Cataract	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000375906	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Leu184Ile	COSM4121372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618529G>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Ala187Thr	rs193920830	missense variant	-	NC_000004.12:g.110618520C>T	-
PITX2	Q99697	p.Ala187Thr	RCV000149104	missense variant	Malignant tumor of prostate	NC_000004.12:g.110618520C>T	ClinVar
PITX2	Q99697	p.Leu189Val	rs774733901	missense variant	-	NC_000004.12:g.110618514G>C	ExAC,gnomAD
PITX2	Q99697	p.Leu189Gln	COSM6165789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618513A>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Thr191Ser	rs544781282	missense variant	-	NC_000004.12:g.110618507G>C	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Ser193Cys	rs1487685918	missense variant	-	NC_000004.12:g.110618502T>A	TOPMed
PITX2	Q99697	p.Ser193Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618501C>T	NCI-TCGA
PITX2	Q99697	p.Phe194Leu	rs1243520771	missense variant	-	NC_000004.12:g.110618497G>T	TOPMed
PITX2	Q99697	p.Pro195Ser	rs1475929130	missense variant	-	NC_000004.12:g.110618496G>A	TOPMed
PITX2	Q99697	p.Pro195His	rs748266578	missense variant	-	NC_000004.12:g.110618495G>T	ExAC,gnomAD
PITX2	Q99697	p.Phe197Val	rs780968713	missense variant	-	NC_000004.12:g.110618490A>C	ExAC,gnomAD
PITX2	Q99697	p.Asn198Asp	rs751484586	missense variant	-	NC_000004.12:g.110618487T>C	ExAC,gnomAD
PITX2	Q99697	p.Asn198Ser	rs779833505	missense variant	-	NC_000004.12:g.110618486T>C	ExAC,gnomAD
PITX2	Q99697	p.Ser199Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618483G>A	NCI-TCGA
PITX2	Q99697	p.Met200Val	rs138163892	missense variant	-	NC_000004.12:g.110618481T>C	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Met200Val	RCV000754825	missense variant	Atrial fibrillation, familial, 1 (ATFB1)	NC_000004.12:g.110618481T>C	ClinVar
PITX2	Q99697	p.Asn203Lys	rs1012844194	missense variant	-	NC_000004.12:g.110618470G>C	TOPMed
PITX2	Q99697	p.Pro204Thr	rs893139859	missense variant	-	NC_000004.12:g.110618469G>T	TOPMed
PITX2	Q99697	p.Leu205Arg	rs1299671377	missense variant	-	NC_000004.12:g.110618465A>C	gnomAD
PITX2	Q99697	p.Ser206Pro	COSM5400302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618463A>G	NCI-TCGA Cosmic
PITX2	Q99697	p.Ser209Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618453C>T	NCI-TCGA
PITX2	Q99697	p.Met210Ile	rs763539767	missense variant	-	NC_000004.12:g.110618449C>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser212Cys	rs760018349	missense variant	-	NC_000004.12:g.110618444G>C	ExAC
PITX2	Q99697	p.Pro214His	rs1427158182	missense variant	-	NC_000004.12:g.110618438G>T	gnomAD
PITX2	Q99697	p.Pro214Thr	COSM731964	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618439G>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Asn215Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618435T>C	NCI-TCGA
PITX2	Q99697	p.Ser216Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618433A>T	NCI-TCGA
PITX2	Q99697	p.Ser216Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618432G>C	NCI-TCGA
PITX2	Q99697	p.Ile217Val	rs774730294	missense variant	-	NC_000004.12:g.110618430T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ile217Ser	rs771311013	missense variant	-	NC_000004.12:g.110618429A>C	ExAC,gnomAD
PITX2	Q99697	p.Ile217Phe	rs774730294	missense variant	-	NC_000004.12:g.110618430T>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ile217Leu	rs774730294	missense variant	-	NC_000004.12:g.110618430T>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser218Pro	rs763373195	missense variant	-	NC_000004.12:g.110618427A>G	ExAC,gnomAD
PITX2	Q99697	p.Met220Leu	rs1488487670	missense variant	-	NC_000004.12:g.110618421T>G	gnomAD
PITX2	Q99697	p.Met220Ile	rs748391268	missense variant	-	NC_000004.12:g.110618419C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Met222Val	rs768622921	missense variant	-	NC_000004.12:g.110618415T>C	ExAC,gnomAD
PITX2	Q99697	p.Ser223Trp	COSM3373360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618411G>C	NCI-TCGA Cosmic
PITX2	Q99697	p.Ser223Leu	COSM1050071	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618411G>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Ser225Asn	rs746908680	missense variant	-	NC_000004.12:g.110618405C>T	ExAC,gnomAD
PITX2	Q99697	p.Met226Val	rs1336888015	missense variant	-	NC_000004.12:g.110618403T>C	gnomAD
PITX2	Q99697	p.Val227Met	rs1279698265	missense variant	-	NC_000004.12:g.110618400C>T	gnomAD
PITX2	Q99697	p.Thr232Ser	rs1337721533	missense variant	-	NC_000004.12:g.110618385T>A	gnomAD
PITX2	Q99697	p.Thr232Ter	RCV000416543	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618369_110618390del	ClinVar
PITX2	Q99697	p.Thr232Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618385T>C	NCI-TCGA
PITX2	Q99697	p.Val234Ile	rs758267195	missense variant	-	NC_000004.12:g.110618379C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro235Thr	rs1241621286	missense variant	-	NC_000004.12:g.110618376G>T	TOPMed
PITX2	Q99697	p.Pro235Leu	rs1301721326	missense variant	-	NC_000004.12:g.110618375G>A	gnomAD
PITX2	Q99697	p.Pro235Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618375G>T	NCI-TCGA
PITX2	Q99697	p.Pro235Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618375G>C	NCI-TCGA
PITX2	Q99697	p.Pro235Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618376G>C	NCI-TCGA
PITX2	Q99697	p.Gly236Asp	rs146807994	missense variant	-	NC_000004.12:g.110618372C>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser237Cys	rs1408211743	missense variant	-	NC_000004.12:g.110618369G>C	gnomAD
PITX2	Q99697	p.Ser241Arg	rs1171626830	missense variant	-	NC_000004.12:g.110618356G>T	gnomAD
PITX2	Q99697	p.Ser241Ile	COSM1050069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618357C>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Asn243Lys	COSM3373358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618350A>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Leu245Trp	rs536920164	missense variant	-	NC_000004.12:g.110618345A>C	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Leu248Met	rs1160425277	missense variant	-	NC_000004.12:g.110618337G>T	TOPMed
PITX2	Q99697	p.Ser249Asn	rs1489350701	missense variant	-	NC_000004.12:g.110618333C>T	gnomAD
PITX2	Q99697	p.Ser249Arg	COSM5185019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618334T>G	NCI-TCGA Cosmic
PITX2	Q99697	p.Ser250Asn	COSM6098674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618330C>T	NCI-TCGA Cosmic
PITX2	Q99697	p.Pro251Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618328G>A	NCI-TCGA
PITX2	Q99697	p.Leu253Pro	rs755635155	missense variant	-	NC_000004.12:g.110618321A>G	ExAC,gnomAD
PITX2	Q99697	p.Ser255Ter	RCV000416496	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618315_110618316del	ClinVar
PITX2	Q99697	p.Ala256Val	rs1403575524	missense variant	-	NC_000004.12:g.110618312G>A	TOPMed
PITX2	Q99697	p.Ala256Ser	rs149181425	missense variant	-	NC_000004.12:g.110618313C>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala256Thr	rs149181425	missense variant	-	NC_000004.12:g.110618313C>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala256Pro	rs149181425	missense variant	-	NC_000004.12:g.110618313C>G	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro258Arg	rs1454407904	missense variant	-	NC_000004.12:g.110618306G>C	TOPMed
PITX2	Q99697	p.Thr259Ala	COSM3408996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618304T>C	NCI-TCGA Cosmic
PITX2	Q99697	p.Thr259Met	COSM1485607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618303G>A	NCI-TCGA Cosmic
PITX2	Q99697	p.Pro260Arg	rs1279482066	missense variant	-	NC_000004.12:g.110618300G>C	gnomAD
PITX2	Q99697	p.Cys262Ter	rs1057519489	stop gained	-	NC_000004.12:g.110618293A>T	-
PITX2	Q99697	p.Cys262Ter	RCV000416518	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618293A>T	ClinVar
PITX2	Q99697	p.Pro263Leu	rs775470219	missense variant	-	NC_000004.12:g.110618291G>A	ExAC,gnomAD
PITX2	Q99697	p.Pro263Ala	rs747126705	missense variant	-	NC_000004.12:g.110618292G>C	ExAC,gnomAD
PITX2	Q99697	p.Pro263Ser	rs747126705	missense variant	-	NC_000004.12:g.110618292G>A	ExAC,gnomAD
PITX2	Q99697	p.Pro263Thr	rs747126705	missense variant	-	NC_000004.12:g.110618292G>T	ExAC,gnomAD
PITX2	Q99697	p.Pro263His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618291G>T	NCI-TCGA
PITX2	Q99697	p.Tyr264Phe	rs371238455	missense variant	-	NC_000004.12:g.110618288T>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Tyr264Phe	RCV000082674	missense variant	-	NC_000004.12:g.110618288T>A	ClinVar
PITX2	Q99697	p.Tyr264Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.110618287G>C	NCI-TCGA
PITX2	Q99697	p.Pro266Thr	rs376861814	missense variant	-	NC_000004.12:g.110618283G>T	ESP,ExAC,gnomAD
PITX2	Q99697	p.Pro266Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618283G>C	NCI-TCGA
PITX2	Q99697	p.Pro267Gln	rs777353401	missense variant	-	NC_000004.12:g.110618279G>T	ExAC,gnomAD
PITX2	Q99697	p.Thr268Ser	rs1437787976	missense variant	-	NC_000004.12:g.110618276G>C	gnomAD
PITX2	Q99697	p.Pro269Thr	rs1239973105	missense variant	-	NC_000004.12:g.110618274G>T	gnomAD
PITX2	Q99697	p.Pro270Arg	rs1198667666	missense variant	-	NC_000004.12:g.110618270G>C	gnomAD
PITX2	Q99697	p.Tyr271Cys	rs755618053	missense variant	-	NC_000004.12:g.110618267T>C	ExAC,gnomAD
PITX2	Q99697	p.Tyr273IlePheSerTerUnkUnk	COSM1050065	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.110618262A>-	NCI-TCGA Cosmic
PITX2	Q99697	p.Asp275Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618255T>A	NCI-TCGA
PITX2	Q99697	p.Thr276Ala	rs374542009	missense variant	-	NC_000004.12:g.110618253T>C	ESP,TOPMed,gnomAD
PITX2	Q99697	p.Thr276Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618252G>A	NCI-TCGA
PITX2	Q99697	p.Cys277Ser	rs1204765849	missense variant	-	NC_000004.12:g.110618250A>T	TOPMed
PITX2	Q99697	p.Ala282Val	rs750934780	missense variant	-	NC_000004.12:g.110618234G>A	ExAC,gnomAD
PITX2	Q99697	p.Arg285Ser	rs1234281342	missense variant	-	NC_000004.12:g.110618224T>A	gnomAD
PITX2	Q99697	p.Lys289Glu	COSM1495683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618214T>C	NCI-TCGA Cosmic
PITX2	Q99697	p.His291Arg	rs1196791376	missense variant	-	NC_000004.12:g.110618207T>C	gnomAD
PITX2	Q99697	p.Phe294Cys	rs1184603292	missense variant	-	NC_000004.12:g.110618198A>C	TOPMed
PITX2	Q99697	p.Phe294Cys	RCV000723092	missense variant	-	NC_000004.12:g.110618198A>C	ClinVar
PITX2	Q99697	p.Tyr296His	rs762224214	missense variant	-	NC_000004.12:g.110618193A>G	ExAC,gnomAD
PITX2	Q99697	p.Ala297Gly	rs1466785760	missense variant	-	NC_000004.12:g.110618189G>C	gnomAD
PITX2	Q99697	p.Ser298Arg	rs764265570	missense variant	-	NC_000004.12:g.110618185G>C	ExAC,gnomAD
PITX2	Q99697	p.Val299Leu	rs760790139	missense variant	-	NC_000004.12:g.110618184C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val299Met	rs760790139	missense variant	-	NC_000004.12:g.110618184C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asn305Ser	rs775387051	missense variant	-	NC_000004.12:g.110618165T>C	ExAC,gnomAD
PITX2	Q99697	p.Asn305Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618164G>T	NCI-TCGA
PITX2	Q99697	p.Ser307Asn	rs571758306	missense variant	-	NC_000004.12:g.110618159C>T	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser307Thr	COSM1327985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618159C>G	NCI-TCGA Cosmic
PITX2	Q99697	p.Ala308Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.110618156G>A	NCI-TCGA
PITX2	Q99697	p.Gln310Arg	rs774485351	missense variant	-	NC_000004.12:g.110618150T>C	ExAC,gnomAD
PITX2	Q99697	p.Arg315Gln	rs770843364	missense variant	-	NC_000004.12:g.110618135C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Arg315Trp	rs1399453588	missense variant	-	NC_000004.12:g.110618136G>A	TOPMed
PITX2	Q99697	p.Arg315Pro	rs770843364	missense variant	-	NC_000004.12:g.110618135C>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val317Leu	rs747865049	missense variant	-	NC_000004.12:g.110618130C>G	ExAC
PITX2	Q99697	p.Val317Leu	rs747865049	missense variant	-	NC_000004.12:g.110618130C>A	ExAC
PITX2	Q99697	p.Glu2Ala	rs1165780730	missense variant	-	NC_000004.12:g.110632994T>G	gnomAD
PITX2	Q99697	p.Cys5Gly	rs200683912	missense variant	-	NC_000004.12:g.110632986A>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Cys5Arg	rs200683912	missense variant	-	NC_000004.12:g.110632986A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Lys7Thr	rs1186590886	missense variant	-	NC_000004.12:g.110632979T>G	gnomAD
PITX2	Q99697	p.Val9Leu	rs1475525896	missense variant	-	NC_000004.12:g.110632974C>G	TOPMed
PITX2	Q99697	p.Val9Ala	rs1252129615	missense variant	-	NC_000004.12:g.110632973A>G	gnomAD
PITX2	Q99697	p.Ser10Thr	rs139906074	missense variant	-	NC_000004.12:g.110632971A>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala11Val	rs373848340	missense variant	-	NC_000004.12:g.110632967G>A	ESP,ExAC,gnomAD
PITX2	Q99697	p.Cys12Arg	rs1341809376	missense variant	-	NC_000004.12:g.110632965A>G	gnomAD
PITX2	Q99697	p.Val13Gly	rs374524467	missense variant	-	NC_000004.12:g.110632961A>C	TOPMed,gnomAD
PITX2	Q99697	p.Leu15Ser	rs778111934	missense variant	-	NC_000004.12:g.110632955A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gly16Asp	rs1333326474	missense variant	-	NC_000004.12:g.110632480C>T	gnomAD
PITX2	Q99697	p.Val17Leu	rs760317329	missense variant	-	NC_000004.12:g.110632478C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val17Met	rs760317329	missense variant	-	NC_000004.12:g.110632478C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala20Val	RCV000372438	missense variant	-	NC_000004.12:g.110632468G>A	ClinVar
PITX2	Q99697	p.Ala20Val	rs150684621	missense variant	-	NC_000004.12:g.110632468G>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val22Leu	rs771505272	missense variant	-	NC_000004.12:g.110632463C>G	ExAC,gnomAD
PITX2	Q99697	p.Glu23Lys	rs763204161	missense variant	-	NC_000004.12:g.110632460C>T	ExAC,gnomAD
PITX2	Q99697	p.Ser27Phe	rs201299310	missense variant	-	NC_000004.12:g.110632447G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp29Tyr	rs770173811	missense variant	-	NC_000004.12:g.110632442C>A	ExAC,gnomAD
PITX2	Q99697	p.Val35Ala	rs748305151	missense variant	-	NC_000004.12:g.110632423A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Glu36Lys	rs781408424	missense variant	-	NC_000004.12:g.110632421C>T	ExAC,gnomAD
PITX2	Q99697	p.Glu36Gly	rs1179183659	missense variant	-	NC_000004.12:g.110632420T>C	gnomAD
PITX2	Q99697	p.Thr38Ala	rs753677423	missense variant	-	NC_000004.12:g.110632415T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp39Tyr	rs779828091	missense variant	-	NC_000004.12:g.110632412C>A	ExAC,gnomAD
PITX2	Q99697	p.Asp39Asn	rs779828091	missense variant	-	NC_000004.12:g.110632412C>T	ExAC,gnomAD
PITX2	Q99697	p.Asp39Glu	rs963550558	missense variant	-	NC_000004.12:g.110632410G>T	gnomAD
PITX2	Q99697	p.Pro41Leu	rs1405688570	missense variant	-	NC_000004.12:g.110632405G>A	TOPMed
PITX2	Q99697	p.Pro41Ser	rs758414076	missense variant	-	NC_000004.12:g.110632406G>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro41Ala	rs758414076	missense variant	-	NC_000004.12:g.110632406G>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Lys45Arg	rs750353276	missense variant	-	NC_000004.12:g.110632393T>C	ExAC,gnomAD
PITX2	Q99697	p.Glu46Ala	rs1420879854	missense variant	-	NC_000004.12:g.110632390T>G	TOPMed
PITX2	Q99697	p.Ser50Arg	rs1159157912	missense variant	-	NC_000004.12:g.110632379T>G	TOPMed
PITX2	Q99697	p.Lys51Ter	rs908902146	stop gained	-	NC_000004.12:g.110632376T>A	TOPMed
PITX2	Q99697	p.Lys51Glu	rs908902146	missense variant	-	NC_000004.12:g.110632376T>C	TOPMed
PITX2	Q99697	p.His57Gln	rs753524953	missense variant	-	NC_000004.12:g.110632356A>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro58Ala	rs763902543	missense variant	-	NC_000004.12:g.110632355G>C	ExAC,gnomAD
PITX2	Q99697	p.Phe58Leu	VAR_082833	Missense	Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]	-	UniProt
PITX2	Q99697	p.Gly59Ala	rs1238878083	missense variant	-	NC_000004.12:g.110632351C>G	gnomAD
PITX2	Q99697	p.Ala60Ser	rs1278211311	missense variant	-	NC_000004.12:g.110632349C>A	TOPMed
PITX2	Q99697	p.Asn61Ile	rs766958445	missense variant	-	NC_000004.12:g.110632345T>A	ExAC,gnomAD
PITX2	Q99697	p.Lys65Arg	rs909606889	missense variant	-	NC_000004.12:g.110621360T>C	TOPMed,gnomAD
PITX2	Q99697	p.Lys65Arg	RCV000591120	missense variant	-	NC_000004.12:g.110621360T>C	ClinVar
PITX2	Q99697	p.Gln67Leu	rs753935193	missense variant	-	NC_000004.12:g.110621354T>A	ExAC,gnomAD
PITX2	Q99697	p.Gln67Pro	rs753935193	missense variant	-	NC_000004.12:g.110621354T>G	ExAC,gnomAD
PITX2	Q99697	p.Gln68Pro	rs201628949	missense variant	-	NC_000004.12:g.110621351T>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln68Arg	rs201628949	missense variant	-	NC_000004.12:g.110621351T>C	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln68Pro	RCV000304723	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000300585	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000344354	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000393111	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000264197	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000359478	missense variant	Cataract	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000355389	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Lys70Asn	rs1197059338	missense variant	-	NC_000004.12:g.110621344C>G	TOPMed
PITX2	Q99697	p.Asn71His	rs781343571	missense variant	-	NC_000004.12:g.110621343T>G	ExAC,gnomAD
PITX2	Q99697	p.Asn71Lys	rs755404910	missense variant	-	NC_000004.12:g.110621341A>T	ExAC,gnomAD
PITX2	Q99697	p.Asp73Glu	rs1326661822	missense variant	-	NC_000004.12:g.110621335G>C	gnomAD
PITX2	Q99697	p.Val74Met	rs535881495	missense variant	-	NC_000004.12:g.110621334C>T	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Gly75Asp	rs766774222	missense variant	-	NC_000004.12:g.110621330C>T	ExAC,gnomAD
PITX2	Q99697	p.Ala76Gly	rs763095137	missense variant	-	NC_000004.12:g.110621327G>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala76Val	rs763095137	missense variant	-	NC_000004.12:g.110621327G>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Glu77Lys	rs765382079	missense variant	-	NC_000004.12:g.110621325C>T	ExAC,gnomAD
PITX2	Q99697	p.Pro79Gln	rs1231505078	missense variant	-	NC_000004.12:g.110621318G>T	gnomAD
PITX2	Q99697	p.Arg84Leu	rs28936409	missense variant	-	NC_000004.12:g.110621303C>A	ExAC,gnomAD
PITX2	Q99697	p.Arg84Gln	rs28936409	missense variant	-	NC_000004.12:g.110621303C>T	ExAC,gnomAD
PITX2	Q99697	p.Arg84Pro	rs28936409	missense variant	-	NC_000004.12:g.110621303C>G	ExAC,gnomAD
PITX2	Q99697	p.Gln85Arg	rs1434250665	missense variant	-	NC_000004.12:g.110621300T>C	TOPMed
PITX2	Q99697	p.Arg86Lys	rs1177438249	missense variant	-	NC_000004.12:g.110621297C>T	gnomAD
PITX2	Q99697	p.Arg87Trp	rs1202334475	missense variant	-	NC_000004.12:g.110621295G>A	gnomAD
PITX2	Q99697	p.Thr93Pro	rs760524995	missense variant	-	NC_000004.12:g.110621277T>G	ExAC,gnomAD
PITX2	Q99697	p.Gln96Ter	rs1553922901	stop gained	-	NC_000004.12:g.110621268G>A	-
PITX2	Q99697	p.Gln96Ter	RCV000584539	nonsense	Rieger syndrome (RIEG)	NC_000004.12:g.110621268G>A	ClinVar
PITX2	Q99697	p.Leu100Gln	rs104893857	missense variant	-	NC_000004.12:g.110621255A>T	-
PITX2	Q99697	p.Leu100Gln	rs104893857	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt,dbSNP
PITX2	Q99697	p.Leu100Gln	VAR_003763	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt
PITX2	Q99697	p.Leu100Gln	RCV000008551	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621255A>T	ClinVar
PITX2	Q99697	p.Arg106Ser	rs868726797	missense variant	-	NC_000004.12:g.110621236C>A	TOPMed
PITX2	Q99697	p.Arg108His	rs104893862	missense variant	Ring dermoid of cornea (rdc)	NC_000004.12:g.110621231C>T	-
PITX2	Q99697	p.Arg108His	rs104893862	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt,dbSNP
PITX2	Q99697	p.Arg108His	VAR_035027	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt
PITX2	Q99697	p.Arg108Ter	RCV000416516	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621213_110621234del	ClinVar
PITX2	Q99697	p.Arg108His	RCV000008562	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	ClinVar
PITX2	Q99697	p.Pro110Leu	RCV000416527	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621225G>A	ClinVar
PITX2	Q99697	p.Pro110Leu	rs1057519484	missense variant	-	NC_000004.12:g.110621225G>A	-
PITX2	Q99697	p.Pro110Arg	VAR_058736	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Thr114Pro	rs104893858	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt,dbSNP
PITX2	Q99697	p.Thr114Pro	VAR_003764	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt
PITX2	Q99697	p.Thr114Pro	rs104893858	missense variant	-	NC_000004.12:g.110621214T>G	gnomAD
PITX2	Q99697	p.Thr114Ala	rs104893858	missense variant	-	NC_000004.12:g.110621214T>C	gnomAD
PITX2	Q99697	p.Thr114Ter	RCV000543429	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214dup	ClinVar
PITX2	Q99697	p.Thr114Pro	RCV000008553	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214T>G	ClinVar
PITX2	Q99697	p.Arg115His	rs104893861	missense variant	-	NC_000004.12:g.110621210C>T	-
PITX2	Q99697	p.Arg115His	rs104893861	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt,dbSNP
PITX2	Q99697	p.Arg115His	VAR_003765	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt
PITX2	Q99697	p.Arg115His	RCV000008558	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621210C>T	ClinVar
PITX2	Q99697	p.Arg115His	RCV000271871	missense variant	-	NC_000004.12:g.110621210C>T	ClinVar
PITX2	Q99697	p.Glu116Lys	rs1335923324	missense variant	-	NC_000004.12:g.110621208C>T	TOPMed,gnomAD
PITX2	Q99697	p.Val120Leu	rs1460126633	missense variant	-	NC_000004.12:g.110621196C>G	TOPMed
PITX2	Q99697	p.Thr122Asn	rs1422020095	missense variant	-	NC_000004.12:g.110621189G>T	gnomAD
PITX2	Q99697	p.Glu126Lys	rs1450441031	missense variant	-	NC_000004.12:g.110621178C>T	TOPMed,gnomAD
PITX2	Q99697	p.Arg128_Lys134del	VAR_035028	inframe_deletion	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Val129Leu	rs121909249	missense variant	-	NC_000004.12:g.110621169C>G	gnomAD
PITX2	Q99697	p.Val129Leu	rs121909249	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt,dbSNP
PITX2	Q99697	p.Val129Leu	VAR_035029	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt
PITX2	Q99697	p.Val129Ile	rs121909249	missense variant	-	NC_000004.12:g.110621169C>T	gnomAD
PITX2	Q99697	p.Val129Leu	RCV000008560	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621169C>G	ClinVar
PITX2	Q99697	p.Arg130Trp	rs121909248	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt,dbSNP
PITX2	Q99697	p.Arg130Trp	VAR_003762	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt
PITX2	Q99697	p.Arg130Trp	rs121909248	missense variant	-	NC_000004.12:g.110621166G>A	gnomAD
PITX2	Q99697	p.Arg130Trp	RCV000008557	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621166G>A	ClinVar
PITX2	Q99697	p.Trp132Leu	rs772800095	missense variant	-	NC_000004.12:g.110618684C>A	ExAC,gnomAD
PITX2	Q99697	p.Lys134Glu	RCV000023116	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618679T>C	ClinVar
PITX2	Q99697	p.Lys134Glu	rs387906810	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt,dbSNP
PITX2	Q99697	p.Lys134Glu	VAR_058737	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt
PITX2	Q99697	p.Lys134Glu	rs387906810	missense variant	-	NC_000004.12:g.110618679T>C	-
PITX2	Q99697	p.Arg136Cys	VAR_058738	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Arg137Pro	rs104893859	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt,dbSNP
PITX2	Q99697	p.Arg137Pro	VAR_003766	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt
PITX2	Q99697	p.Arg137Gly	rs1057519485	missense variant	-	NC_000004.12:g.110618670G>C	-
PITX2	Q99697	p.Arg137Gln	RCV000179024	missense variant	-	NC_000004.12:g.110618669C>T	ClinVar
PITX2	Q99697	p.Arg137Pro	RCV000008555	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618669C>G	ClinVar
PITX2	Q99697	p.Arg137Gly	RCV000416552	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618670G>C	ClinVar
PITX2	Q99697	p.Ala138Pro	rs1057519486	missense variant	-	NC_000004.12:g.110618667C>G	-
PITX2	Q99697	p.Ala138Pro	RCV000416513	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618667C>G	ClinVar
PITX2	Q99697	p.Arg141Lys	rs747454924	missense variant	-	NC_000004.12:g.110618657C>T	ExAC,gnomAD
PITX2	Q99697	p.Arg145Leu	rs772313984	missense variant	-	NC_000004.12:g.110618645C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala149Thr	rs1400360888	missense variant	-	NC_000004.12:g.110618634C>T	gnomAD
PITX2	Q99697	p.Leu151Val	VAR_058739	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Asn154Thr	VAR_058740	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Gly155Arg	rs1487199526	missense variant	-	NC_000004.12:g.110618616C>G	TOPMed
PITX2	Q99697	p.Phe156Cys	rs777760630	missense variant	-	NC_000004.12:g.110618612A>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro158Thr	rs1184574850	missense variant	-	NC_000004.12:g.110618607G>T	gnomAD
PITX2	Q99697	p.Asn161Ser	rs754698054	missense variant	-	NC_000004.12:g.110618597T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gly162Arg	rs1462724749	missense variant	-	NC_000004.12:g.110618595C>T	gnomAD
PITX2	Q99697	p.Met164Ile	rs1279512187	missense variant	-	NC_000004.12:g.110618587C>T	gnomAD
PITX2	Q99697	p.Tyr167Cys	rs751418961	missense variant	-	NC_000004.12:g.110618579T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp169Gly	rs1277602218	missense variant	-	NC_000004.12:g.110618573T>C	TOPMed,gnomAD
PITX2	Q99697	p.Met170Ile	rs1314320002	missense variant	-	NC_000004.12:g.110618569C>G	gnomAD
PITX2	Q99697	p.Met170Val	rs1242188090	missense variant	-	NC_000004.12:g.110618571T>C	TOPMed,gnomAD
PITX2	Q99697	p.Met170Leu	rs1242188090	missense variant	-	NC_000004.12:g.110618571T>G	TOPMed,gnomAD
PITX2	Q99697	p.Met170Thr	rs766110695	missense variant	-	NC_000004.12:g.110618570A>G	ExAC,gnomAD
PITX2	Q99697	p.Pro172Ser	rs527498517	missense variant	-	NC_000004.12:g.110618565G>A	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Ser175Cys	rs1398320537	missense variant	-	NC_000004.12:g.110618555G>C	TOPMed
PITX2	Q99697	p.Tyr176Cys	rs750107133	missense variant	-	NC_000004.12:g.110618552T>C	ExAC,gnomAD
PITX2	Q99697	p.Asn178Ser	rs972015382	missense variant	-	NC_000004.12:g.110618546T>C	TOPMed,gnomAD
PITX2	Q99697	p.Trp179Ter	rs104893860	stop gained	-	NC_000004.12:g.110618542C>T	-
PITX2	Q99697	p.Trp179Ter	RCV000008556	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618542C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000360966	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000262690	missense variant	Cataract	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000375906	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Ser	rs77144743	missense variant	-	NC_000004.12:g.110618538C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala181Thr	RCV000317910	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000266378	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000372306	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	rs77144743	missense variant	-	NC_000004.12:g.110618538C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala181Thr	RCV000321309	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala187Thr	RCV000149104	missense variant	Malignant tumor of prostate	NC_000004.12:g.110618520C>T	ClinVar
PITX2	Q99697	p.Ala187Thr	rs193920830	missense variant	-	NC_000004.12:g.110618520C>T	-
PITX2	Q99697	p.Leu189Val	rs774733901	missense variant	-	NC_000004.12:g.110618514G>C	ExAC,gnomAD
PITX2	Q99697	p.Thr191Ser	rs544781282	missense variant	-	NC_000004.12:g.110618507G>C	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Ser193Cys	rs1487685918	missense variant	-	NC_000004.12:g.110618502T>A	TOPMed
PITX2	Q99697	p.Phe194Leu	rs1243520771	missense variant	-	NC_000004.12:g.110618497G>T	TOPMed
PITX2	Q99697	p.Pro195His	rs748266578	missense variant	-	NC_000004.12:g.110618495G>T	ExAC,gnomAD
PITX2	Q99697	p.Pro195Ser	rs1475929130	missense variant	-	NC_000004.12:g.110618496G>A	TOPMed
PITX2	Q99697	p.Phe197Val	rs780968713	missense variant	-	NC_000004.12:g.110618490A>C	ExAC,gnomAD
PITX2	Q99697	p.Asn198Ser	rs779833505	missense variant	-	NC_000004.12:g.110618486T>C	ExAC,gnomAD
PITX2	Q99697	p.Asn198Asp	rs751484586	missense variant	-	NC_000004.12:g.110618487T>C	ExAC,gnomAD
PITX2	Q99697	p.Met200Val	rs138163892	missense variant	-	NC_000004.12:g.110618481T>C	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Met200Val	RCV000754825	missense variant	Atrial fibrillation, familial, 1 (ATFB1)	NC_000004.12:g.110618481T>C	ClinVar
PITX2	Q99697	p.Asn203Lys	rs1012844194	missense variant	-	NC_000004.12:g.110618470G>C	TOPMed
PITX2	Q99697	p.Pro204Thr	rs893139859	missense variant	-	NC_000004.12:g.110618469G>T	TOPMed
PITX2	Q99697	p.Leu205Arg	rs1299671377	missense variant	-	NC_000004.12:g.110618465A>C	gnomAD
PITX2	Q99697	p.Met210Ile	rs763539767	missense variant	-	NC_000004.12:g.110618449C>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser212Cys	rs760018349	missense variant	-	NC_000004.12:g.110618444G>C	ExAC
PITX2	Q99697	p.Pro214His	rs1427158182	missense variant	-	NC_000004.12:g.110618438G>T	gnomAD
PITX2	Q99697	p.Ile217Leu	rs774730294	missense variant	-	NC_000004.12:g.110618430T>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ile217Val	rs774730294	missense variant	-	NC_000004.12:g.110618430T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ile217Ser	rs771311013	missense variant	-	NC_000004.12:g.110618429A>C	ExAC,gnomAD
PITX2	Q99697	p.Ile217Phe	rs774730294	missense variant	-	NC_000004.12:g.110618430T>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser218Pro	rs763373195	missense variant	-	NC_000004.12:g.110618427A>G	ExAC,gnomAD
PITX2	Q99697	p.Met220Leu	rs1488487670	missense variant	-	NC_000004.12:g.110618421T>G	gnomAD
PITX2	Q99697	p.Met220Ile	rs748391268	missense variant	-	NC_000004.12:g.110618419C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Met222Val	rs768622921	missense variant	-	NC_000004.12:g.110618415T>C	ExAC,gnomAD
PITX2	Q99697	p.Ser225Asn	rs746908680	missense variant	-	NC_000004.12:g.110618405C>T	ExAC,gnomAD
PITX2	Q99697	p.Met226Val	rs1336888015	missense variant	-	NC_000004.12:g.110618403T>C	gnomAD
PITX2	Q99697	p.Val227Met	rs1279698265	missense variant	-	NC_000004.12:g.110618400C>T	gnomAD
PITX2	Q99697	p.Thr232Ser	rs1337721533	missense variant	-	NC_000004.12:g.110618385T>A	gnomAD
PITX2	Q99697	p.Thr232Ter	RCV000416543	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618369_110618390del	ClinVar
PITX2	Q99697	p.Val234Ile	rs758267195	missense variant	-	NC_000004.12:g.110618379C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro235Leu	rs1301721326	missense variant	-	NC_000004.12:g.110618375G>A	gnomAD
PITX2	Q99697	p.Pro235Thr	rs1241621286	missense variant	-	NC_000004.12:g.110618376G>T	TOPMed
PITX2	Q99697	p.Gly236Asp	rs146807994	missense variant	-	NC_000004.12:g.110618372C>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser237Cys	rs1408211743	missense variant	-	NC_000004.12:g.110618369G>C	gnomAD
PITX2	Q99697	p.Ser241Arg	rs1171626830	missense variant	-	NC_000004.12:g.110618356G>T	gnomAD
PITX2	Q99697	p.Leu245Trp	rs536920164	missense variant	-	NC_000004.12:g.110618345A>C	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Leu248Met	rs1160425277	missense variant	-	NC_000004.12:g.110618337G>T	TOPMed
PITX2	Q99697	p.Ser249Asn	rs1489350701	missense variant	-	NC_000004.12:g.110618333C>T	gnomAD
PITX2	Q99697	p.Leu253Pro	rs755635155	missense variant	-	NC_000004.12:g.110618321A>G	ExAC,gnomAD
PITX2	Q99697	p.Ser255Ter	RCV000416496	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618315_110618316del	ClinVar
PITX2	Q99697	p.Ala256Thr	rs149181425	missense variant	-	NC_000004.12:g.110618313C>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala256Val	rs1403575524	missense variant	-	NC_000004.12:g.110618312G>A	TOPMed
PITX2	Q99697	p.Ala256Ser	rs149181425	missense variant	-	NC_000004.12:g.110618313C>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala256Pro	rs149181425	missense variant	-	NC_000004.12:g.110618313C>G	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro258Arg	rs1454407904	missense variant	-	NC_000004.12:g.110618306G>C	TOPMed
PITX2	Q99697	p.Pro260Arg	rs1279482066	missense variant	-	NC_000004.12:g.110618300G>C	gnomAD
PITX2	Q99697	p.Cys262Ter	rs1057519489	stop gained	-	NC_000004.12:g.110618293A>T	-
PITX2	Q99697	p.Cys262Ter	RCV000416518	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618293A>T	ClinVar
PITX2	Q99697	p.Pro263Ser	rs747126705	missense variant	-	NC_000004.12:g.110618292G>A	ExAC,gnomAD
PITX2	Q99697	p.Pro263Ala	rs747126705	missense variant	-	NC_000004.12:g.110618292G>C	ExAC,gnomAD
PITX2	Q99697	p.Pro263Thr	rs747126705	missense variant	-	NC_000004.12:g.110618292G>T	ExAC,gnomAD
PITX2	Q99697	p.Pro263Leu	rs775470219	missense variant	-	NC_000004.12:g.110618291G>A	ExAC,gnomAD
PITX2	Q99697	p.Tyr264Phe	rs371238455	missense variant	-	NC_000004.12:g.110618288T>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Tyr264Phe	RCV000082674	missense variant	-	NC_000004.12:g.110618288T>A	ClinVar
PITX2	Q99697	p.Pro266Thr	rs376861814	missense variant	-	NC_000004.12:g.110618283G>T	ESP,ExAC,gnomAD
PITX2	Q99697	p.Pro267Gln	rs777353401	missense variant	-	NC_000004.12:g.110618279G>T	ExAC,gnomAD
PITX2	Q99697	p.Thr268Ser	rs1437787976	missense variant	-	NC_000004.12:g.110618276G>C	gnomAD
PITX2	Q99697	p.Pro269Thr	rs1239973105	missense variant	-	NC_000004.12:g.110618274G>T	gnomAD
PITX2	Q99697	p.Pro270Arg	rs1198667666	missense variant	-	NC_000004.12:g.110618270G>C	gnomAD
PITX2	Q99697	p.Tyr271Cys	rs755618053	missense variant	-	NC_000004.12:g.110618267T>C	ExAC,gnomAD
PITX2	Q99697	p.Thr276Ala	rs374542009	missense variant	-	NC_000004.12:g.110618253T>C	ESP,TOPMed,gnomAD
PITX2	Q99697	p.Cys277Ser	rs1204765849	missense variant	-	NC_000004.12:g.110618250A>T	TOPMed
PITX2	Q99697	p.Ala282Val	rs750934780	missense variant	-	NC_000004.12:g.110618234G>A	ExAC,gnomAD
PITX2	Q99697	p.Arg285Ser	rs1234281342	missense variant	-	NC_000004.12:g.110618224T>A	gnomAD
PITX2	Q99697	p.His291Arg	rs1196791376	missense variant	-	NC_000004.12:g.110618207T>C	gnomAD
PITX2	Q99697	p.Phe294Cys	rs1184603292	missense variant	-	NC_000004.12:g.110618198A>C	TOPMed
PITX2	Q99697	p.Phe294Cys	RCV000723092	missense variant	-	NC_000004.12:g.110618198A>C	ClinVar
PITX2	Q99697	p.Tyr296His	rs762224214	missense variant	-	NC_000004.12:g.110618193A>G	ExAC,gnomAD
PITX2	Q99697	p.Ala297Gly	rs1466785760	missense variant	-	NC_000004.12:g.110618189G>C	gnomAD
PITX2	Q99697	p.Ser298Arg	rs764265570	missense variant	-	NC_000004.12:g.110618185G>C	ExAC,gnomAD
PITX2	Q99697	p.Val299Met	rs760790139	missense variant	-	NC_000004.12:g.110618184C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val299Leu	rs760790139	missense variant	-	NC_000004.12:g.110618184C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asn305Ser	rs775387051	missense variant	-	NC_000004.12:g.110618165T>C	ExAC,gnomAD
PITX2	Q99697	p.Ser307Asn	rs571758306	missense variant	-	NC_000004.12:g.110618159C>T	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln310Arg	rs774485351	missense variant	-	NC_000004.12:g.110618150T>C	ExAC,gnomAD
PITX2	Q99697	p.Arg315Pro	rs770843364	missense variant	-	NC_000004.12:g.110618135C>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Arg315Gln	rs770843364	missense variant	-	NC_000004.12:g.110618135C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Arg315Trp	rs1399453588	missense variant	-	NC_000004.12:g.110618136G>A	TOPMed
PITX2	Q99697	p.Val317Leu	rs747865049	missense variant	-	NC_000004.12:g.110618130C>G	ExAC
PITX2	Q99697	p.Val317Leu	rs747865049	missense variant	-	NC_000004.12:g.110618130C>A	ExAC
PITX2	Q99697	p.Glu2Ala	rs1165780730	missense variant	-	NC_000004.12:g.110632994T>G	gnomAD
PITX2	Q99697	p.Cys5Arg	rs200683912	missense variant	-	NC_000004.12:g.110632986A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Cys5Gly	rs200683912	missense variant	-	NC_000004.12:g.110632986A>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Lys7Thr	rs1186590886	missense variant	-	NC_000004.12:g.110632979T>G	gnomAD
PITX2	Q99697	p.Val9Ala	rs1252129615	missense variant	-	NC_000004.12:g.110632973A>G	gnomAD
PITX2	Q99697	p.Val9Leu	rs1475525896	missense variant	-	NC_000004.12:g.110632974C>G	TOPMed
PITX2	Q99697	p.Ser10Thr	rs139906074	missense variant	-	NC_000004.12:g.110632971A>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala11Val	rs373848340	missense variant	-	NC_000004.12:g.110632967G>A	ESP,ExAC,gnomAD
PITX2	Q99697	p.Cys12Arg	rs1341809376	missense variant	-	NC_000004.12:g.110632965A>G	gnomAD
PITX2	Q99697	p.Val13Gly	rs374524467	missense variant	-	NC_000004.12:g.110632961A>C	TOPMed,gnomAD
PITX2	Q99697	p.Leu15Ser	rs778111934	missense variant	-	NC_000004.12:g.110632955A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gly16Asp	rs1333326474	missense variant	-	NC_000004.12:g.110632480C>T	gnomAD
PITX2	Q99697	p.Val17Leu	rs760317329	missense variant	-	NC_000004.12:g.110632478C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val17Met	rs760317329	missense variant	-	NC_000004.12:g.110632478C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala20Val	RCV000372438	missense variant	-	NC_000004.12:g.110632468G>A	ClinVar
PITX2	Q99697	p.Ala20Val	rs150684621	missense variant	-	NC_000004.12:g.110632468G>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val22Leu	rs771505272	missense variant	-	NC_000004.12:g.110632463C>G	ExAC,gnomAD
PITX2	Q99697	p.Glu23Lys	rs763204161	missense variant	-	NC_000004.12:g.110632460C>T	ExAC,gnomAD
PITX2	Q99697	p.Ser27Phe	rs201299310	missense variant	-	NC_000004.12:g.110632447G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp29Tyr	rs770173811	missense variant	-	NC_000004.12:g.110632442C>A	ExAC,gnomAD
PITX2	Q99697	p.Val35Ala	rs748305151	missense variant	-	NC_000004.12:g.110632423A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Glu36Lys	rs781408424	missense variant	-	NC_000004.12:g.110632421C>T	ExAC,gnomAD
PITX2	Q99697	p.Glu36Gly	rs1179183659	missense variant	-	NC_000004.12:g.110632420T>C	gnomAD
PITX2	Q99697	p.Thr38Ala	rs753677423	missense variant	-	NC_000004.12:g.110632415T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp39Tyr	rs779828091	missense variant	-	NC_000004.12:g.110632412C>A	ExAC,gnomAD
PITX2	Q99697	p.Asp39Asn	rs779828091	missense variant	-	NC_000004.12:g.110632412C>T	ExAC,gnomAD
PITX2	Q99697	p.Asp39Glu	rs963550558	missense variant	-	NC_000004.12:g.110632410G>T	gnomAD
PITX2	Q99697	p.Pro41Leu	rs1405688570	missense variant	-	NC_000004.12:g.110632405G>A	TOPMed
PITX2	Q99697	p.Pro41Ala	rs758414076	missense variant	-	NC_000004.12:g.110632406G>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro41Ser	rs758414076	missense variant	-	NC_000004.12:g.110632406G>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Lys45Arg	rs750353276	missense variant	-	NC_000004.12:g.110632393T>C	ExAC,gnomAD
PITX2	Q99697	p.Glu46Ala	rs1420879854	missense variant	-	NC_000004.12:g.110632390T>G	TOPMed
PITX2	Q99697	p.Ser50Arg	rs1159157912	missense variant	-	NC_000004.12:g.110632379T>G	TOPMed
PITX2	Q99697	p.Lys51Ter	rs908902146	stop gained	-	NC_000004.12:g.110632376T>A	TOPMed
PITX2	Q99697	p.Lys51Glu	rs908902146	missense variant	-	NC_000004.12:g.110632376T>C	TOPMed
PITX2	Q99697	p.His57Gln	rs753524953	missense variant	-	NC_000004.12:g.110632356A>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro58Ala	rs763902543	missense variant	-	NC_000004.12:g.110632355G>C	ExAC,gnomAD
PITX2	Q99697	p.Phe58Leu	VAR_082833	Missense	Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]	-	UniProt
PITX2	Q99697	p.Gly59Ala	rs1238878083	missense variant	-	NC_000004.12:g.110632351C>G	gnomAD
PITX2	Q99697	p.Ala60Ser	rs1278211311	missense variant	-	NC_000004.12:g.110632349C>A	TOPMed
PITX2	Q99697	p.Asn61Ile	rs766958445	missense variant	-	NC_000004.12:g.110632345T>A	ExAC,gnomAD
PITX2	Q99697	p.Lys65Arg	rs909606889	missense variant	-	NC_000004.12:g.110621360T>C	TOPMed,gnomAD
PITX2	Q99697	p.Lys65Arg	RCV000591120	missense variant	-	NC_000004.12:g.110621360T>C	ClinVar
PITX2	Q99697	p.Gln67Leu	rs753935193	missense variant	-	NC_000004.12:g.110621354T>A	ExAC,gnomAD
PITX2	Q99697	p.Gln67Pro	rs753935193	missense variant	-	NC_000004.12:g.110621354T>G	ExAC,gnomAD
PITX2	Q99697	p.Gln68Pro	RCV000393111	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000264197	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000344354	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	rs201628949	missense variant	-	NC_000004.12:g.110621351T>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln68Arg	rs201628949	missense variant	-	NC_000004.12:g.110621351T>C	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln68Pro	RCV000300585	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000304723	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000355389	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000359478	missense variant	Cataract	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Lys70Asn	rs1197059338	missense variant	-	NC_000004.12:g.110621344C>G	TOPMed
PITX2	Q99697	p.Asn71His	rs781343571	missense variant	-	NC_000004.12:g.110621343T>G	ExAC,gnomAD
PITX2	Q99697	p.Asn71Lys	rs755404910	missense variant	-	NC_000004.12:g.110621341A>T	ExAC,gnomAD
PITX2	Q99697	p.Asp73Glu	rs1326661822	missense variant	-	NC_000004.12:g.110621335G>C	gnomAD
PITX2	Q99697	p.Val74Met	rs535881495	missense variant	-	NC_000004.12:g.110621334C>T	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Gly75Asp	rs766774222	missense variant	-	NC_000004.12:g.110621330C>T	ExAC,gnomAD
PITX2	Q99697	p.Ala76Gly	rs763095137	missense variant	-	NC_000004.12:g.110621327G>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala76Val	rs763095137	missense variant	-	NC_000004.12:g.110621327G>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Glu77Lys	rs765382079	missense variant	-	NC_000004.12:g.110621325C>T	ExAC,gnomAD
PITX2	Q99697	p.Pro79Gln	rs1231505078	missense variant	-	NC_000004.12:g.110621318G>T	gnomAD
PITX2	Q99697	p.Arg84Leu	rs28936409	missense variant	-	NC_000004.12:g.110621303C>A	ExAC,gnomAD
PITX2	Q99697	p.Arg84Pro	rs28936409	missense variant	-	NC_000004.12:g.110621303C>G	ExAC,gnomAD
PITX2	Q99697	p.Arg84Gln	rs28936409	missense variant	-	NC_000004.12:g.110621303C>T	ExAC,gnomAD
PITX2	Q99697	p.Gln85Arg	rs1434250665	missense variant	-	NC_000004.12:g.110621300T>C	TOPMed
PITX2	Q99697	p.Arg86Lys	rs1177438249	missense variant	-	NC_000004.12:g.110621297C>T	gnomAD
PITX2	Q99697	p.Arg87Trp	rs1202334475	missense variant	-	NC_000004.12:g.110621295G>A	gnomAD
PITX2	Q99697	p.Thr93Pro	rs760524995	missense variant	-	NC_000004.12:g.110621277T>G	ExAC,gnomAD
PITX2	Q99697	p.Gln96Ter	rs1553922901	stop gained	-	NC_000004.12:g.110621268G>A	-
PITX2	Q99697	p.Gln96Ter	RCV000584539	nonsense	Rieger syndrome (RIEG)	NC_000004.12:g.110621268G>A	ClinVar
PITX2	Q99697	p.Leu100Gln	rs104893857	missense variant	-	NC_000004.12:g.110621255A>T	-
PITX2	Q99697	p.Leu100Gln	rs104893857	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt,dbSNP
PITX2	Q99697	p.Leu100Gln	VAR_003763	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt
PITX2	Q99697	p.Leu100Gln	RCV000008551	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621255A>T	ClinVar
PITX2	Q99697	p.Arg106Ser	rs868726797	missense variant	-	NC_000004.12:g.110621236C>A	TOPMed
PITX2	Q99697	p.Arg108His	rs104893862	missense variant	Ring dermoid of cornea (rdc)	NC_000004.12:g.110621231C>T	-
PITX2	Q99697	p.Arg108His	rs104893862	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt,dbSNP
PITX2	Q99697	p.Arg108His	VAR_035027	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt
PITX2	Q99697	p.Arg108His	RCV000008562	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	ClinVar
PITX2	Q99697	p.Arg108Ter	RCV000416516	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621213_110621234del	ClinVar
PITX2	Q99697	p.Pro110Leu	rs1057519484	missense variant	-	NC_000004.12:g.110621225G>A	-
PITX2	Q99697	p.Pro110Leu	RCV000416527	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621225G>A	ClinVar
PITX2	Q99697	p.Pro110Arg	VAR_058736	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Thr114Pro	rs104893858	missense variant	-	NC_000004.12:g.110621214T>G	gnomAD
PITX2	Q99697	p.Thr114Pro	rs104893858	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt,dbSNP
PITX2	Q99697	p.Thr114Pro	VAR_003764	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt
PITX2	Q99697	p.Thr114Ter	RCV000543429	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214dup	ClinVar
PITX2	Q99697	p.Thr114Ala	rs104893858	missense variant	-	NC_000004.12:g.110621214T>C	gnomAD
PITX2	Q99697	p.Thr114Pro	RCV000008553	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214T>G	ClinVar
PITX2	Q99697	p.Arg115His	rs104893861	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt,dbSNP
PITX2	Q99697	p.Arg115His	VAR_003765	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt
PITX2	Q99697	p.Arg115His	rs104893861	missense variant	-	NC_000004.12:g.110621210C>T	-
PITX2	Q99697	p.Arg115His	RCV000008558	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621210C>T	ClinVar
PITX2	Q99697	p.Arg115His	RCV000271871	missense variant	-	NC_000004.12:g.110621210C>T	ClinVar
PITX2	Q99697	p.Glu116Lys	rs1335923324	missense variant	-	NC_000004.12:g.110621208C>T	TOPMed,gnomAD
PITX2	Q99697	p.Val120Leu	rs1460126633	missense variant	-	NC_000004.12:g.110621196C>G	TOPMed
PITX2	Q99697	p.Thr122Asn	rs1422020095	missense variant	-	NC_000004.12:g.110621189G>T	gnomAD
PITX2	Q99697	p.Glu126Lys	rs1450441031	missense variant	-	NC_000004.12:g.110621178C>T	TOPMed,gnomAD
PITX2	Q99697	p.Arg128_Lys134del	VAR_035028	inframe_deletion	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Val129Leu	rs121909249	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt,dbSNP
PITX2	Q99697	p.Val129Leu	VAR_035029	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt
PITX2	Q99697	p.Val129Leu	rs121909249	missense variant	-	NC_000004.12:g.110621169C>G	gnomAD
PITX2	Q99697	p.Val129Ile	rs121909249	missense variant	-	NC_000004.12:g.110621169C>T	gnomAD
PITX2	Q99697	p.Val129Leu	RCV000008560	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621169C>G	ClinVar
PITX2	Q99697	p.Arg130Trp	rs121909248	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt,dbSNP
PITX2	Q99697	p.Arg130Trp	VAR_003762	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt
PITX2	Q99697	p.Arg130Trp	rs121909248	missense variant	-	NC_000004.12:g.110621166G>A	gnomAD
PITX2	Q99697	p.Arg130Trp	RCV000008557	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621166G>A	ClinVar
PITX2	Q99697	p.Trp132Leu	rs772800095	missense variant	-	NC_000004.12:g.110618684C>A	ExAC,gnomAD
PITX2	Q99697	p.Lys134Glu	RCV000023116	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618679T>C	ClinVar
PITX2	Q99697	p.Lys134Glu	rs387906810	missense variant	-	NC_000004.12:g.110618679T>C	-
PITX2	Q99697	p.Lys134Glu	rs387906810	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt,dbSNP
PITX2	Q99697	p.Lys134Glu	VAR_058737	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt
PITX2	Q99697	p.Arg136Cys	VAR_058738	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Arg137Gly	rs1057519485	missense variant	-	NC_000004.12:g.110618670G>C	-
PITX2	Q99697	p.Arg137Pro	rs104893859	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt,dbSNP
PITX2	Q99697	p.Arg137Pro	VAR_003766	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt
PITX2	Q99697	p.Arg137Gln	RCV000179024	missense variant	-	NC_000004.12:g.110618669C>T	ClinVar
PITX2	Q99697	p.Arg137Gly	RCV000416552	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618670G>C	ClinVar
PITX2	Q99697	p.Arg137Pro	RCV000008555	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618669C>G	ClinVar
PITX2	Q99697	p.Ala138Pro	rs1057519486	missense variant	-	NC_000004.12:g.110618667C>G	-
PITX2	Q99697	p.Ala138Pro	RCV000416513	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618667C>G	ClinVar
PITX2	Q99697	p.Arg141Lys	rs747454924	missense variant	-	NC_000004.12:g.110618657C>T	ExAC,gnomAD
PITX2	Q99697	p.Arg145Leu	rs772313984	missense variant	-	NC_000004.12:g.110618645C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala149Thr	rs1400360888	missense variant	-	NC_000004.12:g.110618634C>T	gnomAD
PITX2	Q99697	p.Leu151Val	VAR_058739	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Asn154Thr	VAR_058740	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Gly155Arg	rs1487199526	missense variant	-	NC_000004.12:g.110618616C>G	TOPMed
PITX2	Q99697	p.Phe156Cys	rs777760630	missense variant	-	NC_000004.12:g.110618612A>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro158Thr	rs1184574850	missense variant	-	NC_000004.12:g.110618607G>T	gnomAD
PITX2	Q99697	p.Asn161Ser	rs754698054	missense variant	-	NC_000004.12:g.110618597T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gly162Arg	rs1462724749	missense variant	-	NC_000004.12:g.110618595C>T	gnomAD
PITX2	Q99697	p.Met164Ile	rs1279512187	missense variant	-	NC_000004.12:g.110618587C>T	gnomAD
PITX2	Q99697	p.Tyr167Cys	rs751418961	missense variant	-	NC_000004.12:g.110618579T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp169Gly	rs1277602218	missense variant	-	NC_000004.12:g.110618573T>C	TOPMed,gnomAD
PITX2	Q99697	p.Met170Ile	rs1314320002	missense variant	-	NC_000004.12:g.110618569C>G	gnomAD
PITX2	Q99697	p.Met170Val	rs1242188090	missense variant	-	NC_000004.12:g.110618571T>C	TOPMed,gnomAD
PITX2	Q99697	p.Met170Leu	rs1242188090	missense variant	-	NC_000004.12:g.110618571T>G	TOPMed,gnomAD
PITX2	Q99697	p.Met170Thr	rs766110695	missense variant	-	NC_000004.12:g.110618570A>G	ExAC,gnomAD
PITX2	Q99697	p.Pro172Ser	rs527498517	missense variant	-	NC_000004.12:g.110618565G>A	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Ser175Cys	rs1398320537	missense variant	-	NC_000004.12:g.110618555G>C	TOPMed
PITX2	Q99697	p.Tyr176Cys	rs750107133	missense variant	-	NC_000004.12:g.110618552T>C	ExAC,gnomAD
PITX2	Q99697	p.Asn178Ser	rs972015382	missense variant	-	NC_000004.12:g.110618546T>C	TOPMed,gnomAD
PITX2	Q99697	p.Trp179Ter	rs104893860	stop gained	-	NC_000004.12:g.110618542C>T	-
PITX2	Q99697	p.Trp179Ter	RCV000008556	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618542C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000321309	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000375906	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000262690	missense variant	Cataract	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000360966	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Ser	rs77144743	missense variant	-	NC_000004.12:g.110618538C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala181Thr	RCV000266378	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000317910	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000372306	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	rs77144743	missense variant	-	NC_000004.12:g.110618538C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala187Thr	RCV000149104	missense variant	Malignant tumor of prostate	NC_000004.12:g.110618520C>T	ClinVar
PITX2	Q99697	p.Ala187Thr	rs193920830	missense variant	-	NC_000004.12:g.110618520C>T	-
PITX2	Q99697	p.Leu189Val	rs774733901	missense variant	-	NC_000004.12:g.110618514G>C	ExAC,gnomAD
PITX2	Q99697	p.Thr191Ser	rs544781282	missense variant	-	NC_000004.12:g.110618507G>C	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Ser193Cys	rs1487685918	missense variant	-	NC_000004.12:g.110618502T>A	TOPMed
PITX2	Q99697	p.Phe194Leu	rs1243520771	missense variant	-	NC_000004.12:g.110618497G>T	TOPMed
PITX2	Q99697	p.Pro195His	rs748266578	missense variant	-	NC_000004.12:g.110618495G>T	ExAC,gnomAD
PITX2	Q99697	p.Pro195Ser	rs1475929130	missense variant	-	NC_000004.12:g.110618496G>A	TOPMed
PITX2	Q99697	p.Phe197Val	rs780968713	missense variant	-	NC_000004.12:g.110618490A>C	ExAC,gnomAD
PITX2	Q99697	p.Asn198Ser	rs779833505	missense variant	-	NC_000004.12:g.110618486T>C	ExAC,gnomAD
PITX2	Q99697	p.Asn198Asp	rs751484586	missense variant	-	NC_000004.12:g.110618487T>C	ExAC,gnomAD
PITX2	Q99697	p.Met200Val	rs138163892	missense variant	-	NC_000004.12:g.110618481T>C	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Met200Val	RCV000754825	missense variant	Atrial fibrillation, familial, 1 (ATFB1)	NC_000004.12:g.110618481T>C	ClinVar
PITX2	Q99697	p.Asn203Lys	rs1012844194	missense variant	-	NC_000004.12:g.110618470G>C	TOPMed
PITX2	Q99697	p.Pro204Thr	rs893139859	missense variant	-	NC_000004.12:g.110618469G>T	TOPMed
PITX2	Q99697	p.Leu205Arg	rs1299671377	missense variant	-	NC_000004.12:g.110618465A>C	gnomAD
PITX2	Q99697	p.Met210Ile	rs763539767	missense variant	-	NC_000004.12:g.110618449C>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser212Cys	rs760018349	missense variant	-	NC_000004.12:g.110618444G>C	ExAC
PITX2	Q99697	p.Pro214His	rs1427158182	missense variant	-	NC_000004.12:g.110618438G>T	gnomAD
PITX2	Q99697	p.Ile217Leu	rs774730294	missense variant	-	NC_000004.12:g.110618430T>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ile217Ser	rs771311013	missense variant	-	NC_000004.12:g.110618429A>C	ExAC,gnomAD
PITX2	Q99697	p.Ile217Val	rs774730294	missense variant	-	NC_000004.12:g.110618430T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ile217Phe	rs774730294	missense variant	-	NC_000004.12:g.110618430T>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser218Pro	rs763373195	missense variant	-	NC_000004.12:g.110618427A>G	ExAC,gnomAD
PITX2	Q99697	p.Met220Leu	rs1488487670	missense variant	-	NC_000004.12:g.110618421T>G	gnomAD
PITX2	Q99697	p.Met220Ile	rs748391268	missense variant	-	NC_000004.12:g.110618419C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Met222Val	rs768622921	missense variant	-	NC_000004.12:g.110618415T>C	ExAC,gnomAD
PITX2	Q99697	p.Ser225Asn	rs746908680	missense variant	-	NC_000004.12:g.110618405C>T	ExAC,gnomAD
PITX2	Q99697	p.Met226Val	rs1336888015	missense variant	-	NC_000004.12:g.110618403T>C	gnomAD
PITX2	Q99697	p.Val227Met	rs1279698265	missense variant	-	NC_000004.12:g.110618400C>T	gnomAD
PITX2	Q99697	p.Thr232Ser	rs1337721533	missense variant	-	NC_000004.12:g.110618385T>A	gnomAD
PITX2	Q99697	p.Thr232Ter	RCV000416543	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618369_110618390del	ClinVar
PITX2	Q99697	p.Val234Ile	rs758267195	missense variant	-	NC_000004.12:g.110618379C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro235Leu	rs1301721326	missense variant	-	NC_000004.12:g.110618375G>A	gnomAD
PITX2	Q99697	p.Pro235Thr	rs1241621286	missense variant	-	NC_000004.12:g.110618376G>T	TOPMed
PITX2	Q99697	p.Gly236Asp	rs146807994	missense variant	-	NC_000004.12:g.110618372C>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser237Cys	rs1408211743	missense variant	-	NC_000004.12:g.110618369G>C	gnomAD
PITX2	Q99697	p.Ser241Arg	rs1171626830	missense variant	-	NC_000004.12:g.110618356G>T	gnomAD
PITX2	Q99697	p.Leu245Trp	rs536920164	missense variant	-	NC_000004.12:g.110618345A>C	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Leu248Met	rs1160425277	missense variant	-	NC_000004.12:g.110618337G>T	TOPMed
PITX2	Q99697	p.Ser249Asn	rs1489350701	missense variant	-	NC_000004.12:g.110618333C>T	gnomAD
PITX2	Q99697	p.Leu253Pro	rs755635155	missense variant	-	NC_000004.12:g.110618321A>G	ExAC,gnomAD
PITX2	Q99697	p.Ser255Ter	RCV000416496	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618315_110618316del	ClinVar
PITX2	Q99697	p.Ala256Thr	rs149181425	missense variant	-	NC_000004.12:g.110618313C>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala256Val	rs1403575524	missense variant	-	NC_000004.12:g.110618312G>A	TOPMed
PITX2	Q99697	p.Ala256Ser	rs149181425	missense variant	-	NC_000004.12:g.110618313C>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala256Pro	rs149181425	missense variant	-	NC_000004.12:g.110618313C>G	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro258Arg	rs1454407904	missense variant	-	NC_000004.12:g.110618306G>C	TOPMed
PITX2	Q99697	p.Pro260Arg	rs1279482066	missense variant	-	NC_000004.12:g.110618300G>C	gnomAD
PITX2	Q99697	p.Cys262Ter	rs1057519489	stop gained	-	NC_000004.12:g.110618293A>T	-
PITX2	Q99697	p.Cys262Ter	RCV000416518	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618293A>T	ClinVar
PITX2	Q99697	p.Pro263Ser	rs747126705	missense variant	-	NC_000004.12:g.110618292G>A	ExAC,gnomAD
PITX2	Q99697	p.Pro263Ala	rs747126705	missense variant	-	NC_000004.12:g.110618292G>C	ExAC,gnomAD
PITX2	Q99697	p.Pro263Thr	rs747126705	missense variant	-	NC_000004.12:g.110618292G>T	ExAC,gnomAD
PITX2	Q99697	p.Pro263Leu	rs775470219	missense variant	-	NC_000004.12:g.110618291G>A	ExAC,gnomAD
PITX2	Q99697	p.Tyr264Phe	RCV000082674	missense variant	-	NC_000004.12:g.110618288T>A	ClinVar
PITX2	Q99697	p.Tyr264Phe	rs371238455	missense variant	-	NC_000004.12:g.110618288T>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro266Thr	rs376861814	missense variant	-	NC_000004.12:g.110618283G>T	ESP,ExAC,gnomAD
PITX2	Q99697	p.Pro267Gln	rs777353401	missense variant	-	NC_000004.12:g.110618279G>T	ExAC,gnomAD
PITX2	Q99697	p.Thr268Ser	rs1437787976	missense variant	-	NC_000004.12:g.110618276G>C	gnomAD
PITX2	Q99697	p.Pro269Thr	rs1239973105	missense variant	-	NC_000004.12:g.110618274G>T	gnomAD
PITX2	Q99697	p.Pro270Arg	rs1198667666	missense variant	-	NC_000004.12:g.110618270G>C	gnomAD
PITX2	Q99697	p.Tyr271Cys	rs755618053	missense variant	-	NC_000004.12:g.110618267T>C	ExAC,gnomAD
PITX2	Q99697	p.Thr276Ala	rs374542009	missense variant	-	NC_000004.12:g.110618253T>C	ESP,TOPMed,gnomAD
PITX2	Q99697	p.Cys277Ser	rs1204765849	missense variant	-	NC_000004.12:g.110618250A>T	TOPMed
PITX2	Q99697	p.Ala282Val	rs750934780	missense variant	-	NC_000004.12:g.110618234G>A	ExAC,gnomAD
PITX2	Q99697	p.Arg285Ser	rs1234281342	missense variant	-	NC_000004.12:g.110618224T>A	gnomAD
PITX2	Q99697	p.His291Arg	rs1196791376	missense variant	-	NC_000004.12:g.110618207T>C	gnomAD
PITX2	Q99697	p.Phe294Cys	rs1184603292	missense variant	-	NC_000004.12:g.110618198A>C	TOPMed
PITX2	Q99697	p.Phe294Cys	RCV000723092	missense variant	-	NC_000004.12:g.110618198A>C	ClinVar
PITX2	Q99697	p.Tyr296His	rs762224214	missense variant	-	NC_000004.12:g.110618193A>G	ExAC,gnomAD
PITX2	Q99697	p.Ala297Gly	rs1466785760	missense variant	-	NC_000004.12:g.110618189G>C	gnomAD
PITX2	Q99697	p.Ser298Arg	rs764265570	missense variant	-	NC_000004.12:g.110618185G>C	ExAC,gnomAD
PITX2	Q99697	p.Val299Met	rs760790139	missense variant	-	NC_000004.12:g.110618184C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val299Leu	rs760790139	missense variant	-	NC_000004.12:g.110618184C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asn305Ser	rs775387051	missense variant	-	NC_000004.12:g.110618165T>C	ExAC,gnomAD
PITX2	Q99697	p.Ser307Asn	rs571758306	missense variant	-	NC_000004.12:g.110618159C>T	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln310Arg	rs774485351	missense variant	-	NC_000004.12:g.110618150T>C	ExAC,gnomAD
PITX2	Q99697	p.Arg315Pro	rs770843364	missense variant	-	NC_000004.12:g.110618135C>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Arg315Gln	rs770843364	missense variant	-	NC_000004.12:g.110618135C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Arg315Trp	rs1399453588	missense variant	-	NC_000004.12:g.110618136G>A	TOPMed
PITX2	Q99697	p.Val317Leu	rs747865049	missense variant	-	NC_000004.12:g.110618130C>G	ExAC
PITX2	Q99697	p.Val317Leu	rs747865049	missense variant	-	NC_000004.12:g.110618130C>A	ExAC
PITX2	Q99697	p.Glu2Ala	rs1165780730	missense variant	-	NC_000004.12:g.110632994T>G	gnomAD
PITX2	Q99697	p.Cys5Arg	rs200683912	missense variant	-	NC_000004.12:g.110632986A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Cys5Gly	rs200683912	missense variant	-	NC_000004.12:g.110632986A>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Lys7Thr	rs1186590886	missense variant	-	NC_000004.12:g.110632979T>G	gnomAD
PITX2	Q99697	p.Val9Ala	rs1252129615	missense variant	-	NC_000004.12:g.110632973A>G	gnomAD
PITX2	Q99697	p.Val9Leu	rs1475525896	missense variant	-	NC_000004.12:g.110632974C>G	TOPMed
PITX2	Q99697	p.Ser10Thr	rs139906074	missense variant	-	NC_000004.12:g.110632971A>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala11Val	rs373848340	missense variant	-	NC_000004.12:g.110632967G>A	ESP,ExAC,gnomAD
PITX2	Q99697	p.Cys12Arg	rs1341809376	missense variant	-	NC_000004.12:g.110632965A>G	gnomAD
PITX2	Q99697	p.Val13Gly	rs374524467	missense variant	-	NC_000004.12:g.110632961A>C	TOPMed,gnomAD
PITX2	Q99697	p.Leu15Ser	rs778111934	missense variant	-	NC_000004.12:g.110632955A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gly16Asp	rs1333326474	missense variant	-	NC_000004.12:g.110632480C>T	gnomAD
PITX2	Q99697	p.Val17Leu	rs760317329	missense variant	-	NC_000004.12:g.110632478C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val17Met	rs760317329	missense variant	-	NC_000004.12:g.110632478C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala20Val	RCV000372438	missense variant	-	NC_000004.12:g.110632468G>A	ClinVar
PITX2	Q99697	p.Ala20Val	rs150684621	missense variant	-	NC_000004.12:g.110632468G>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val22Leu	rs771505272	missense variant	-	NC_000004.12:g.110632463C>G	ExAC,gnomAD
PITX2	Q99697	p.Glu23Lys	rs763204161	missense variant	-	NC_000004.12:g.110632460C>T	ExAC,gnomAD
PITX2	Q99697	p.Ser27Phe	rs201299310	missense variant	-	NC_000004.12:g.110632447G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp29Tyr	rs770173811	missense variant	-	NC_000004.12:g.110632442C>A	ExAC,gnomAD
PITX2	Q99697	p.Val35Ala	rs748305151	missense variant	-	NC_000004.12:g.110632423A>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Glu36Lys	rs781408424	missense variant	-	NC_000004.12:g.110632421C>T	ExAC,gnomAD
PITX2	Q99697	p.Glu36Gly	rs1179183659	missense variant	-	NC_000004.12:g.110632420T>C	gnomAD
PITX2	Q99697	p.Thr38Ala	rs753677423	missense variant	-	NC_000004.12:g.110632415T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp39Tyr	rs779828091	missense variant	-	NC_000004.12:g.110632412C>A	ExAC,gnomAD
PITX2	Q99697	p.Asp39Asn	rs779828091	missense variant	-	NC_000004.12:g.110632412C>T	ExAC,gnomAD
PITX2	Q99697	p.Asp39Glu	rs963550558	missense variant	-	NC_000004.12:g.110632410G>T	gnomAD
PITX2	Q99697	p.Pro41Leu	rs1405688570	missense variant	-	NC_000004.12:g.110632405G>A	TOPMed
PITX2	Q99697	p.Pro41Ser	rs758414076	missense variant	-	NC_000004.12:g.110632406G>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro41Ala	rs758414076	missense variant	-	NC_000004.12:g.110632406G>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Lys45Arg	rs750353276	missense variant	-	NC_000004.12:g.110632393T>C	ExAC,gnomAD
PITX2	Q99697	p.Glu46Ala	rs1420879854	missense variant	-	NC_000004.12:g.110632390T>G	TOPMed
PITX2	Q99697	p.Ser50Arg	rs1159157912	missense variant	-	NC_000004.12:g.110632379T>G	TOPMed
PITX2	Q99697	p.Lys51Ter	rs908902146	stop gained	-	NC_000004.12:g.110632376T>A	TOPMed
PITX2	Q99697	p.Lys51Glu	rs908902146	missense variant	-	NC_000004.12:g.110632376T>C	TOPMed
PITX2	Q99697	p.His57Gln	rs753524953	missense variant	-	NC_000004.12:g.110632356A>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro58Ala	rs763902543	missense variant	-	NC_000004.12:g.110632355G>C	ExAC,gnomAD
PITX2	Q99697	p.Phe58Leu	VAR_082833	Missense	Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]	-	UniProt
PITX2	Q99697	p.Gly59Ala	rs1238878083	missense variant	-	NC_000004.12:g.110632351C>G	gnomAD
PITX2	Q99697	p.Ala60Ser	rs1278211311	missense variant	-	NC_000004.12:g.110632349C>A	TOPMed
PITX2	Q99697	p.Asn61Ile	rs766958445	missense variant	-	NC_000004.12:g.110632345T>A	ExAC,gnomAD
PITX2	Q99697	p.Lys65Arg	RCV000591120	missense variant	-	NC_000004.12:g.110621360T>C	ClinVar
PITX2	Q99697	p.Lys65Arg	rs909606889	missense variant	-	NC_000004.12:g.110621360T>C	TOPMed,gnomAD
PITX2	Q99697	p.Gln67Leu	rs753935193	missense variant	-	NC_000004.12:g.110621354T>A	ExAC,gnomAD
PITX2	Q99697	p.Gln67Pro	rs753935193	missense variant	-	NC_000004.12:g.110621354T>G	ExAC,gnomAD
PITX2	Q99697	p.Gln68Pro	RCV000264197	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000344354	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000393111	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	rs201628949	missense variant	-	NC_000004.12:g.110621351T>G	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln68Pro	RCV000300585	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000304723	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Arg	rs201628949	missense variant	-	NC_000004.12:g.110621351T>C	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln68Pro	RCV000355389	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Gln68Pro	RCV000359478	missense variant	Cataract	NC_000004.12:g.110621351T>G	ClinVar
PITX2	Q99697	p.Lys70Asn	rs1197059338	missense variant	-	NC_000004.12:g.110621344C>G	TOPMed
PITX2	Q99697	p.Asn71His	rs781343571	missense variant	-	NC_000004.12:g.110621343T>G	ExAC,gnomAD
PITX2	Q99697	p.Asn71Lys	rs755404910	missense variant	-	NC_000004.12:g.110621341A>T	ExAC,gnomAD
PITX2	Q99697	p.Asp73Glu	rs1326661822	missense variant	-	NC_000004.12:g.110621335G>C	gnomAD
PITX2	Q99697	p.Val74Met	rs535881495	missense variant	-	NC_000004.12:g.110621334C>T	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Gly75Asp	rs766774222	missense variant	-	NC_000004.12:g.110621330C>T	ExAC,gnomAD
PITX2	Q99697	p.Ala76Gly	rs763095137	missense variant	-	NC_000004.12:g.110621327G>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala76Val	rs763095137	missense variant	-	NC_000004.12:g.110621327G>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Glu77Lys	rs765382079	missense variant	-	NC_000004.12:g.110621325C>T	ExAC,gnomAD
PITX2	Q99697	p.Pro79Gln	rs1231505078	missense variant	-	NC_000004.12:g.110621318G>T	gnomAD
PITX2	Q99697	p.Arg84Gln	rs28936409	missense variant	-	NC_000004.12:g.110621303C>T	ExAC,gnomAD
PITX2	Q99697	p.Arg84Leu	rs28936409	missense variant	-	NC_000004.12:g.110621303C>A	ExAC,gnomAD
PITX2	Q99697	p.Arg84Pro	rs28936409	missense variant	-	NC_000004.12:g.110621303C>G	ExAC,gnomAD
PITX2	Q99697	p.Gln85Arg	rs1434250665	missense variant	-	NC_000004.12:g.110621300T>C	TOPMed
PITX2	Q99697	p.Arg86Lys	rs1177438249	missense variant	-	NC_000004.12:g.110621297C>T	gnomAD
PITX2	Q99697	p.Arg87Trp	rs1202334475	missense variant	-	NC_000004.12:g.110621295G>A	gnomAD
PITX2	Q99697	p.Thr93Pro	rs760524995	missense variant	-	NC_000004.12:g.110621277T>G	ExAC,gnomAD
PITX2	Q99697	p.Gln96Ter	rs1553922901	stop gained	-	NC_000004.12:g.110621268G>A	-
PITX2	Q99697	p.Gln96Ter	RCV000584539	nonsense	Rieger syndrome (RIEG)	NC_000004.12:g.110621268G>A	ClinVar
PITX2	Q99697	p.Leu100Gln	RCV000008551	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621255A>T	ClinVar
PITX2	Q99697	p.Leu100Gln	rs104893857	missense variant	-	NC_000004.12:g.110621255A>T	-
PITX2	Q99697	p.Leu100Gln	rs104893857	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt,dbSNP
PITX2	Q99697	p.Leu100Gln	VAR_003763	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt
PITX2	Q99697	p.Arg106Ser	rs868726797	missense variant	-	NC_000004.12:g.110621236C>A	TOPMed
PITX2	Q99697	p.Arg108His	rs104893862	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt,dbSNP
PITX2	Q99697	p.Arg108His	VAR_035027	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt
PITX2	Q99697	p.Arg108His	rs104893862	missense variant	Ring dermoid of cornea (rdc)	NC_000004.12:g.110621231C>T	-
PITX2	Q99697	p.Arg108Ter	RCV000416516	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621213_110621234del	ClinVar
PITX2	Q99697	p.Arg108His	RCV000008562	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	ClinVar
PITX2	Q99697	p.Pro110Leu	rs1057519484	missense variant	-	NC_000004.12:g.110621225G>A	-
PITX2	Q99697	p.Pro110Leu	RCV000416527	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621225G>A	ClinVar
PITX2	Q99697	p.Pro110Arg	VAR_058736	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Thr114Pro	rs104893858	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt,dbSNP
PITX2	Q99697	p.Thr114Pro	VAR_003764	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt
PITX2	Q99697	p.Thr114Pro	rs104893858	missense variant	-	NC_000004.12:g.110621214T>G	gnomAD
PITX2	Q99697	p.Thr114Ter	RCV000543429	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214dup	ClinVar
PITX2	Q99697	p.Thr114Ala	rs104893858	missense variant	-	NC_000004.12:g.110621214T>C	gnomAD
PITX2	Q99697	p.Thr114Pro	RCV000008553	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214T>G	ClinVar
PITX2	Q99697	p.Arg115His	RCV000008558	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621210C>T	ClinVar
PITX2	Q99697	p.Arg115His	rs104893861	missense variant	-	NC_000004.12:g.110621210C>T	-
PITX2	Q99697	p.Arg115His	rs104893861	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt,dbSNP
PITX2	Q99697	p.Arg115His	VAR_003765	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt
PITX2	Q99697	p.Arg115His	RCV000271871	missense variant	-	NC_000004.12:g.110621210C>T	ClinVar
PITX2	Q99697	p.Glu116Lys	rs1335923324	missense variant	-	NC_000004.12:g.110621208C>T	TOPMed,gnomAD
PITX2	Q99697	p.Val120Leu	rs1460126633	missense variant	-	NC_000004.12:g.110621196C>G	TOPMed
PITX2	Q99697	p.Thr122Asn	rs1422020095	missense variant	-	NC_000004.12:g.110621189G>T	gnomAD
PITX2	Q99697	p.Glu126Lys	rs1450441031	missense variant	-	NC_000004.12:g.110621178C>T	TOPMed,gnomAD
PITX2	Q99697	p.Arg128_Lys134del	VAR_035028	inframe_deletion	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Val129Leu	rs121909249	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt,dbSNP
PITX2	Q99697	p.Val129Leu	VAR_035029	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt
PITX2	Q99697	p.Val129Leu	rs121909249	missense variant	-	NC_000004.12:g.110621169C>G	gnomAD
PITX2	Q99697	p.Val129Ile	rs121909249	missense variant	-	NC_000004.12:g.110621169C>T	gnomAD
PITX2	Q99697	p.Val129Leu	RCV000008560	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621169C>G	ClinVar
PITX2	Q99697	p.Arg130Trp	rs121909248	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt,dbSNP
PITX2	Q99697	p.Arg130Trp	VAR_003762	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt
PITX2	Q99697	p.Arg130Trp	rs121909248	missense variant	-	NC_000004.12:g.110621166G>A	gnomAD
PITX2	Q99697	p.Arg130Trp	RCV000008557	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621166G>A	ClinVar
PITX2	Q99697	p.Trp132Leu	rs772800095	missense variant	-	NC_000004.12:g.110618684C>A	ExAC,gnomAD
PITX2	Q99697	p.Lys134Glu	RCV000023116	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618679T>C	ClinVar
PITX2	Q99697	p.Lys134Glu	rs387906810	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt,dbSNP
PITX2	Q99697	p.Lys134Glu	VAR_058737	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt
PITX2	Q99697	p.Lys134Glu	rs387906810	missense variant	-	NC_000004.12:g.110618679T>C	-
PITX2	Q99697	p.Arg136Cys	VAR_058738	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Arg137Gln	RCV000179024	missense variant	-	NC_000004.12:g.110618669C>T	ClinVar
PITX2	Q99697	p.Arg137Gly	rs1057519485	missense variant	-	NC_000004.12:g.110618670G>C	-
PITX2	Q99697	p.Arg137Pro	rs104893859	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt,dbSNP
PITX2	Q99697	p.Arg137Pro	VAR_003766	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt
PITX2	Q99697	p.Arg137Pro	RCV000008555	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618669C>G	ClinVar
PITX2	Q99697	p.Arg137Gly	RCV000416552	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618670G>C	ClinVar
PITX2	Q99697	p.Ala138Pro	RCV000416513	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618667C>G	ClinVar
PITX2	Q99697	p.Ala138Pro	rs1057519486	missense variant	-	NC_000004.12:g.110618667C>G	-
PITX2	Q99697	p.Arg141Lys	rs747454924	missense variant	-	NC_000004.12:g.110618657C>T	ExAC,gnomAD
PITX2	Q99697	p.Arg145Leu	rs772313984	missense variant	-	NC_000004.12:g.110618645C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala149Thr	rs1400360888	missense variant	-	NC_000004.12:g.110618634C>T	gnomAD
PITX2	Q99697	p.Leu151Val	VAR_058739	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Asn154Thr	VAR_058740	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
PITX2	Q99697	p.Gly155Arg	rs1487199526	missense variant	-	NC_000004.12:g.110618616C>G	TOPMed
PITX2	Q99697	p.Phe156Cys	rs777760630	missense variant	-	NC_000004.12:g.110618612A>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro158Thr	rs1184574850	missense variant	-	NC_000004.12:g.110618607G>T	gnomAD
PITX2	Q99697	p.Asn161Ser	rs754698054	missense variant	-	NC_000004.12:g.110618597T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gly162Arg	rs1462724749	missense variant	-	NC_000004.12:g.110618595C>T	gnomAD
PITX2	Q99697	p.Met164Ile	rs1279512187	missense variant	-	NC_000004.12:g.110618587C>T	gnomAD
PITX2	Q99697	p.Tyr167Cys	rs751418961	missense variant	-	NC_000004.12:g.110618579T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asp169Gly	rs1277602218	missense variant	-	NC_000004.12:g.110618573T>C	TOPMed,gnomAD
PITX2	Q99697	p.Met170Ile	rs1314320002	missense variant	-	NC_000004.12:g.110618569C>G	gnomAD
PITX2	Q99697	p.Met170Val	rs1242188090	missense variant	-	NC_000004.12:g.110618571T>C	TOPMed,gnomAD
PITX2	Q99697	p.Met170Thr	rs766110695	missense variant	-	NC_000004.12:g.110618570A>G	ExAC,gnomAD
PITX2	Q99697	p.Met170Leu	rs1242188090	missense variant	-	NC_000004.12:g.110618571T>G	TOPMed,gnomAD
PITX2	Q99697	p.Pro172Ser	rs527498517	missense variant	-	NC_000004.12:g.110618565G>A	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Ser175Cys	rs1398320537	missense variant	-	NC_000004.12:g.110618555G>C	TOPMed
PITX2	Q99697	p.Tyr176Cys	rs750107133	missense variant	-	NC_000004.12:g.110618552T>C	ExAC,gnomAD
PITX2	Q99697	p.Asn178Ser	rs972015382	missense variant	-	NC_000004.12:g.110618546T>C	TOPMed,gnomAD
PITX2	Q99697	p.Trp179Ter	RCV000008556	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618542C>T	ClinVar
PITX2	Q99697	p.Trp179Ter	rs104893860	stop gained	-	NC_000004.12:g.110618542C>T	-
PITX2	Q99697	p.Ala181Thr	RCV000321309	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Ser	rs77144743	missense variant	-	NC_000004.12:g.110618538C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala181Thr	RCV000360966	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000375906	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000262690	missense variant	Cataract	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000317910	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	RCV000266378	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala181Thr	rs77144743	missense variant	-	NC_000004.12:g.110618538C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala181Thr	RCV000372306	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110618538C>T	ClinVar
PITX2	Q99697	p.Ala187Thr	RCV000149104	missense variant	Malignant tumor of prostate	NC_000004.12:g.110618520C>T	ClinVar
PITX2	Q99697	p.Ala187Thr	rs193920830	missense variant	-	NC_000004.12:g.110618520C>T	-
PITX2	Q99697	p.Leu189Val	rs774733901	missense variant	-	NC_000004.12:g.110618514G>C	ExAC,gnomAD
PITX2	Q99697	p.Thr191Ser	rs544781282	missense variant	-	NC_000004.12:g.110618507G>C	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Ser193Cys	rs1487685918	missense variant	-	NC_000004.12:g.110618502T>A	TOPMed
PITX2	Q99697	p.Phe194Leu	rs1243520771	missense variant	-	NC_000004.12:g.110618497G>T	TOPMed
PITX2	Q99697	p.Pro195His	rs748266578	missense variant	-	NC_000004.12:g.110618495G>T	ExAC,gnomAD
PITX2	Q99697	p.Pro195Ser	rs1475929130	missense variant	-	NC_000004.12:g.110618496G>A	TOPMed
PITX2	Q99697	p.Phe197Val	rs780968713	missense variant	-	NC_000004.12:g.110618490A>C	ExAC,gnomAD
PITX2	Q99697	p.Asn198Ser	rs779833505	missense variant	-	NC_000004.12:g.110618486T>C	ExAC,gnomAD
PITX2	Q99697	p.Asn198Asp	rs751484586	missense variant	-	NC_000004.12:g.110618487T>C	ExAC,gnomAD
PITX2	Q99697	p.Met200Val	rs138163892	missense variant	-	NC_000004.12:g.110618481T>C	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Met200Val	RCV000754825	missense variant	Atrial fibrillation, familial, 1 (ATFB1)	NC_000004.12:g.110618481T>C	ClinVar
PITX2	Q99697	p.Asn203Lys	rs1012844194	missense variant	-	NC_000004.12:g.110618470G>C	TOPMed
PITX2	Q99697	p.Pro204Thr	rs893139859	missense variant	-	NC_000004.12:g.110618469G>T	TOPMed
PITX2	Q99697	p.Leu205Arg	rs1299671377	missense variant	-	NC_000004.12:g.110618465A>C	gnomAD
PITX2	Q99697	p.Met210Ile	rs763539767	missense variant	-	NC_000004.12:g.110618449C>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser212Cys	rs760018349	missense variant	-	NC_000004.12:g.110618444G>C	ExAC
PITX2	Q99697	p.Pro214His	rs1427158182	missense variant	-	NC_000004.12:g.110618438G>T	gnomAD
PITX2	Q99697	p.Ile217Leu	rs774730294	missense variant	-	NC_000004.12:g.110618430T>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ile217Phe	rs774730294	missense variant	-	NC_000004.12:g.110618430T>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ile217Ser	rs771311013	missense variant	-	NC_000004.12:g.110618429A>C	ExAC,gnomAD
PITX2	Q99697	p.Ile217Val	rs774730294	missense variant	-	NC_000004.12:g.110618430T>C	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser218Pro	rs763373195	missense variant	-	NC_000004.12:g.110618427A>G	ExAC,gnomAD
PITX2	Q99697	p.Met220Leu	rs1488487670	missense variant	-	NC_000004.12:g.110618421T>G	gnomAD
PITX2	Q99697	p.Met220Ile	rs748391268	missense variant	-	NC_000004.12:g.110618419C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Met222Val	rs768622921	missense variant	-	NC_000004.12:g.110618415T>C	ExAC,gnomAD
PITX2	Q99697	p.Ser225Asn	rs746908680	missense variant	-	NC_000004.12:g.110618405C>T	ExAC,gnomAD
PITX2	Q99697	p.Met226Val	rs1336888015	missense variant	-	NC_000004.12:g.110618403T>C	gnomAD
PITX2	Q99697	p.Val227Met	rs1279698265	missense variant	-	NC_000004.12:g.110618400C>T	gnomAD
PITX2	Q99697	p.Thr232Ser	rs1337721533	missense variant	-	NC_000004.12:g.110618385T>A	gnomAD
PITX2	Q99697	p.Thr232Ter	RCV000416543	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618369_110618390del	ClinVar
PITX2	Q99697	p.Val234Ile	rs758267195	missense variant	-	NC_000004.12:g.110618379C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro235Leu	rs1301721326	missense variant	-	NC_000004.12:g.110618375G>A	gnomAD
PITX2	Q99697	p.Pro235Thr	rs1241621286	missense variant	-	NC_000004.12:g.110618376G>T	TOPMed
PITX2	Q99697	p.Gly236Asp	rs146807994	missense variant	-	NC_000004.12:g.110618372C>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ser237Cys	rs1408211743	missense variant	-	NC_000004.12:g.110618369G>C	gnomAD
PITX2	Q99697	p.Ser241Arg	rs1171626830	missense variant	-	NC_000004.12:g.110618356G>T	gnomAD
PITX2	Q99697	p.Leu245Trp	rs536920164	missense variant	-	NC_000004.12:g.110618345A>C	1000Genomes,ExAC,gnomAD
PITX2	Q99697	p.Leu248Met	rs1160425277	missense variant	-	NC_000004.12:g.110618337G>T	TOPMed
PITX2	Q99697	p.Ser249Asn	rs1489350701	missense variant	-	NC_000004.12:g.110618333C>T	gnomAD
PITX2	Q99697	p.Leu253Pro	rs755635155	missense variant	-	NC_000004.12:g.110618321A>G	ExAC,gnomAD
PITX2	Q99697	p.Ser255Ter	RCV000416496	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618315_110618316del	ClinVar
PITX2	Q99697	p.Ala256Thr	rs149181425	missense variant	-	NC_000004.12:g.110618313C>T	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala256Val	rs1403575524	missense variant	-	NC_000004.12:g.110618312G>A	TOPMed
PITX2	Q99697	p.Ala256Ser	rs149181425	missense variant	-	NC_000004.12:g.110618313C>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Ala256Pro	rs149181425	missense variant	-	NC_000004.12:g.110618313C>G	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro258Arg	rs1454407904	missense variant	-	NC_000004.12:g.110618306G>C	TOPMed
PITX2	Q99697	p.Pro260Arg	rs1279482066	missense variant	-	NC_000004.12:g.110618300G>C	gnomAD
PITX2	Q99697	p.Cys262Ter	rs1057519489	stop gained	-	NC_000004.12:g.110618293A>T	-
PITX2	Q99697	p.Cys262Ter	RCV000416518	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618293A>T	ClinVar
PITX2	Q99697	p.Pro263Thr	rs747126705	missense variant	-	NC_000004.12:g.110618292G>T	ExAC,gnomAD
PITX2	Q99697	p.Pro263Ser	rs747126705	missense variant	-	NC_000004.12:g.110618292G>A	ExAC,gnomAD
PITX2	Q99697	p.Pro263Ala	rs747126705	missense variant	-	NC_000004.12:g.110618292G>C	ExAC,gnomAD
PITX2	Q99697	p.Pro263Leu	rs775470219	missense variant	-	NC_000004.12:g.110618291G>A	ExAC,gnomAD
PITX2	Q99697	p.Tyr264Phe	RCV000082674	missense variant	-	NC_000004.12:g.110618288T>A	ClinVar
PITX2	Q99697	p.Tyr264Phe	rs371238455	missense variant	-	NC_000004.12:g.110618288T>A	ESP,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Pro266Thr	rs376861814	missense variant	-	NC_000004.12:g.110618283G>T	ESP,ExAC,gnomAD
PITX2	Q99697	p.Pro267Gln	rs777353401	missense variant	-	NC_000004.12:g.110618279G>T	ExAC,gnomAD
PITX2	Q99697	p.Thr268Ser	rs1437787976	missense variant	-	NC_000004.12:g.110618276G>C	gnomAD
PITX2	Q99697	p.Pro269Thr	rs1239973105	missense variant	-	NC_000004.12:g.110618274G>T	gnomAD
PITX2	Q99697	p.Pro270Arg	rs1198667666	missense variant	-	NC_000004.12:g.110618270G>C	gnomAD
PITX2	Q99697	p.Tyr271Cys	rs755618053	missense variant	-	NC_000004.12:g.110618267T>C	ExAC,gnomAD
PITX2	Q99697	p.Thr276Ala	rs374542009	missense variant	-	NC_000004.12:g.110618253T>C	ESP,TOPMed,gnomAD
PITX2	Q99697	p.Cys277Ser	rs1204765849	missense variant	-	NC_000004.12:g.110618250A>T	TOPMed
PITX2	Q99697	p.Ala282Val	rs750934780	missense variant	-	NC_000004.12:g.110618234G>A	ExAC,gnomAD
PITX2	Q99697	p.Arg285Ser	rs1234281342	missense variant	-	NC_000004.12:g.110618224T>A	gnomAD
PITX2	Q99697	p.His291Arg	rs1196791376	missense variant	-	NC_000004.12:g.110618207T>C	gnomAD
PITX2	Q99697	p.Phe294Cys	rs1184603292	missense variant	-	NC_000004.12:g.110618198A>C	TOPMed
PITX2	Q99697	p.Phe294Cys	RCV000723092	missense variant	-	NC_000004.12:g.110618198A>C	ClinVar
PITX2	Q99697	p.Tyr296His	rs762224214	missense variant	-	NC_000004.12:g.110618193A>G	ExAC,gnomAD
PITX2	Q99697	p.Ala297Gly	rs1466785760	missense variant	-	NC_000004.12:g.110618189G>C	gnomAD
PITX2	Q99697	p.Ser298Arg	rs764265570	missense variant	-	NC_000004.12:g.110618185G>C	ExAC,gnomAD
PITX2	Q99697	p.Val299Met	rs760790139	missense variant	-	NC_000004.12:g.110618184C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Val299Leu	rs760790139	missense variant	-	NC_000004.12:g.110618184C>A	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Asn305Ser	rs775387051	missense variant	-	NC_000004.12:g.110618165T>C	ExAC,gnomAD
PITX2	Q99697	p.Ser307Asn	rs571758306	missense variant	-	NC_000004.12:g.110618159C>T	1000Genomes,ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Gln310Arg	rs774485351	missense variant	-	NC_000004.12:g.110618150T>C	ExAC,gnomAD
PITX2	Q99697	p.Arg315Pro	rs770843364	missense variant	-	NC_000004.12:g.110618135C>G	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Arg315Gln	rs770843364	missense variant	-	NC_000004.12:g.110618135C>T	ExAC,TOPMed,gnomAD
PITX2	Q99697	p.Arg315Trp	rs1399453588	missense variant	-	NC_000004.12:g.110618136G>A	TOPMed
PITX2	Q99697	p.Val317Leu	rs747865049	missense variant	-	NC_000004.12:g.110618130C>G	ExAC
PITX2	Q99697	p.Val317Leu	rs747865049	missense variant	-	NC_000004.12:g.110618130C>A	ExAC
MTR	Q99707	p.Met1Ter	RCV000518922	frameshift	-	NC_000001.11:g.236795704_236795705del	ClinVar
MTR	Q99707	p.Ser2Ter	COSM3804465	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236795708C>A	NCI-TCGA Cosmic
MTR	Q99707	p.Pro3Ser	rs1471694660	missense variant	-	NC_000001.11:g.236795710C>T	gnomAD
MTR	Q99707	p.Ala4Thr	rs1418638914	missense variant	-	NC_000001.11:g.236795713G>A	gnomAD
MTR	Q99707	p.Leu5Ile	rs139083778	missense variant	-	NC_000001.11:g.236795716C>A	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gln6Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.236795719C>T	NCI-TCGA
MTR	Q99707	p.Asp7Glu	rs1157538901	missense variant	-	NC_000001.11:g.236795724C>G	TOPMed
MTR	Q99707	p.Asp7Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236795722G>T	NCI-TCGA
MTR	Q99707	p.Leu8Val	rs376654651	missense variant	-	NC_000001.11:g.236795725C>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Leu8Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236795726T>C	NCI-TCGA
MTR	Q99707	p.Ser9Pro	rs1358937870	missense variant	-	NC_000001.11:g.236795728T>C	TOPMed,gnomAD
MTR	Q99707	p.Ser9Leu	rs201533281	missense variant	-	NC_000001.11:g.236795729C>T	1000Genomes,ExAC,gnomAD
MTR	Q99707	p.Pro11His	rs1182148079	missense variant	-	NC_000001.11:g.236795735C>A	TOPMed
MTR	Q99707	p.Glu12Gly	rs890801915	missense variant	-	NC_000001.11:g.236803428A>G	TOPMed
MTR	Q99707	p.Arg19Gly	rs376681897	missense variant	-	NC_000001.11:g.236803448C>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg19Trp	rs376681897	missense variant	-	NC_000001.11:g.236803448C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg19Gln	rs767724201	missense variant	-	NC_000001.11:g.236803449G>A	ExAC,gnomAD
MTR	Q99707	p.Asp20Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236803452A>T	NCI-TCGA
MTR	Q99707	p.Asp20Glu	rs1415816351	missense variant	-	NC_000001.11:g.236803453T>A	gnomAD
MTR	Q99707	p.Glu21Lys	rs1331695580	missense variant	-	NC_000001.11:g.236803454G>A	gnomAD
MTR	Q99707	p.Asn23Ser	rs760845484	missense variant	-	NC_000001.11:g.236803461A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asn23Asp	rs752855469	missense variant	-	NC_000001.11:g.236803460A>G	ExAC,gnomAD
MTR	Q99707	p.Asn23Lys	rs1300477913	missense variant	-	NC_000001.11:g.236803462T>G	gnomAD
MTR	Q99707	p.Ile25Val	rs764054343	missense variant	-	NC_000001.11:g.236803466A>G	ExAC,gnomAD
MTR	Q99707	p.Ile25Phe	rs764054343	missense variant	-	NC_000001.11:g.236803466A>T	ExAC,gnomAD
MTR	Q99707	p.Gln27Arg	rs1039659576	missense variant	-	NC_000001.11:g.236803473A>G	TOPMed
MTR	Q99707	p.Lys28Asn	rs1384964032	missense variant	-	NC_000001.11:g.236803477G>T	TOPMed
MTR	Q99707	p.Val32Met	rs1338725410	missense variant	-	NC_000001.11:g.236803487G>A	TOPMed
MTR	Q99707	p.Asp34Glu	rs1228136721	missense variant	-	NC_000001.11:g.236803495T>G	gnomAD
MTR	Q99707	p.Met37Thr	rs371079306	missense variant	-	NC_000001.11:g.236803503T>C	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile41Leu	rs1198918767	missense variant	-	NC_000001.11:g.236803514A>C	gnomAD
MTR	Q99707	p.Arg43Trp	rs757720946	missense variant	-	NC_000001.11:g.236803520C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg43Gln	rs143088011	missense variant	-	NC_000001.11:g.236803521G>A	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg43Leu	rs143088011	missense variant	-	NC_000001.11:g.236803521G>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu44Gln	rs1447510980	missense variant	-	NC_000001.11:g.236803523G>C	gnomAD
MTR	Q99707	p.Glu44Asp	rs373236234	missense variant	-	NC_000001.11:g.236803525G>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys45Asn	rs747724978	missense variant	-	NC_000001.11:g.236803528G>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu48Lys	rs769395060	missense variant	-	NC_000001.11:g.236803535G>A	ExAC,gnomAD
MTR	Q99707	p.His50Arg	rs749273555	missense variant	-	NC_000001.11:g.236803542A>G	ExAC,gnomAD
MTR	Q99707	p.His50Tyr	rs777103178	missense variant	-	NC_000001.11:g.236803541C>T	ExAC,gnomAD
MTR	Q99707	p.Arg52Gln	rs12749581	missense variant	-	NC_000001.11:g.236803548G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg52Gln	rs12749581	missense variant	-	NC_000001.11:g.236803548G>A	UniProt,dbSNP
MTR	Q99707	p.Arg52Gln	VAR_050033	missense variant	-	NC_000001.11:g.236803548G>A	UniProt
MTR	Q99707	p.Arg52Ter	rs767201867	stop gained	-	NC_000001.11:g.236803547C>T	TOPMed,gnomAD
MTR	Q99707	p.Arg52Gln	RCV000642174	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236803548G>A	ClinVar
MTR	Q99707	p.Gly53Val	rs774303595	missense variant	-	NC_000001.11:g.236803551G>T	ExAC,gnomAD
MTR	Q99707	p.Gln54Ter	COSM6125213	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236803553C>T	NCI-TCGA Cosmic
MTR	Q99707	p.Gln54His	rs759468686	missense variant	-	NC_000001.11:g.236803555G>C	ExAC,gnomAD
MTR	Q99707	p.Glu55Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236803556G>A	NCI-TCGA
MTR	Q99707	p.Lys57Gln	rs1435000607	missense variant	-	NC_000001.11:g.236803562A>C	gnomAD
MTR	Q99707	p.Ala60Ser	rs1333154240	missense variant	-	NC_000001.11:g.236803571G>T	gnomAD
MTR	Q99707	p.Ala60Gly	rs775827591	missense variant	-	NC_000001.11:g.236803572C>G	ExAC,gnomAD
MTR	Q99707	p.Arg61Lys	VAR_004326	Missense	-	-	UniProt
MTR	Q99707	p.Pro62Ser	rs760756234	missense variant	-	NC_000001.11:g.236803577C>T	ExAC,gnomAD
MTR	Q99707	p.Pro62Leu	rs61736442	missense variant	-	NC_000001.11:g.236803578C>T	ExAC,gnomAD
MTR	Q99707	p.Gly65Asp	rs1463533327	missense variant	-	NC_000001.11:g.236803587G>A	gnomAD
MTR	Q99707	p.Asn66Ser	rs1208006921	missense variant	-	NC_000001.11:g.236803590A>G	gnomAD
MTR	Q99707	p.Asn67Ser	rs762320058	missense variant	-	NC_000001.11:g.236803593A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ser71Asn	rs1333592892	missense variant	-	NC_000001.11:g.236803605G>A	TOPMed,gnomAD
MTR	Q99707	p.Ile72Val	rs1376723117	missense variant	-	NC_000001.11:g.236803607A>G	TOPMed,gnomAD
MTR	Q99707	p.Ile72Met	rs750927351	missense variant	-	NC_000001.11:g.236803609A>G	ExAC,gnomAD
MTR	Q99707	p.Thr73Ser	rs758803927	missense variant	-	NC_000001.11:g.236803611C>G	ExAC,gnomAD
MTR	Q99707	p.Gln74Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236803613C>G	NCI-TCGA
MTR	Q99707	p.Pro75Leu	rs1409105939	missense variant	-	NC_000001.11:g.236803617C>T	gnomAD
MTR	Q99707	p.Asp76Asn	rs1457210228	missense variant	-	NC_000001.11:g.236803619G>A	gnomAD
MTR	Q99707	p.Ile81Thr	rs1296588896	missense variant	-	NC_000001.11:g.236803635T>C	TOPMed
MTR	Q99707	p.His82Arg	rs1393448524	missense variant	-	NC_000001.11:g.236803638A>G	gnomAD
MTR	Q99707	p.Tyr85Phe	rs766800721	missense variant	-	NC_000001.11:g.236806148A>T	ExAC,gnomAD
MTR	Q99707	p.Tyr85Asn	rs763321071	missense variant	-	NC_000001.11:g.236806147T>A	ExAC,gnomAD
MTR	Q99707	p.Tyr85His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236806147T>C	NCI-TCGA
MTR	Q99707	p.Ala88Val	rs1242485688	missense variant	-	NC_000001.11:g.236806157C>T	gnomAD
MTR	Q99707	p.Ala90Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236806162G>A	NCI-TCGA
MTR	Q99707	p.Asp91Glu	rs755806533	missense variant	-	NC_000001.11:g.236806167T>G	ExAC,gnomAD
MTR	Q99707	p.Asp91His	rs956616795	missense variant	-	NC_000001.11:g.236806165G>C	TOPMed,gnomAD
MTR	Q99707	p.Asp91Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236806165G>T	NCI-TCGA
MTR	Q99707	p.Ile93Val	rs753506566	missense variant	-	NC_000001.11:g.236806171A>G	ExAC,gnomAD
MTR	Q99707	p.Ile93Thr	rs756873897	missense variant	-	NC_000001.11:g.236806172T>C	ExAC,gnomAD
MTR	Q99707	p.Glu94Gln	rs1182007274	missense variant	-	NC_000001.11:g.236806174G>C	gnomAD
MTR	Q99707	p.Thr95Ile	rs778513217	missense variant	-	NC_000001.11:g.236806178C>T	ExAC,gnomAD
MTR	Q99707	p.Asn96Asp	rs1422635105	missense variant	-	NC_000001.11:g.236806180A>G	gnomAD
MTR	Q99707	p.Phe98Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236806188T>A	NCI-TCGA
MTR	Q99707	p.Ser100Gly	rs745828101	missense variant	-	NC_000001.11:g.236806192A>G	ExAC,gnomAD
MTR	Q99707	p.Thr101Ser	rs980644569	missense variant	-	NC_000001.11:g.236806196C>G	TOPMed,gnomAD
MTR	Q99707	p.Thr101Ile	rs980644569	missense variant	-	NC_000001.11:g.236806196C>T	TOPMed,gnomAD
MTR	Q99707	p.Thr101Ala	rs758202311	missense variant	-	NC_000001.11:g.236806195A>G	ExAC,gnomAD
MTR	Q99707	p.Ile103Val	rs1370258050	missense variant	-	NC_000001.11:g.236806201A>G	gnomAD
MTR	Q99707	p.Ile103Thr	rs367730702	missense variant	-	NC_000001.11:g.236806202T>C	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala106Val	rs1304708310	missense variant	-	NC_000001.11:g.236806211C>T	gnomAD
MTR	Q99707	p.Gly109Ser	rs746836137	missense variant	-	NC_000001.11:g.236806219G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Leu110Phe	rs1311957427	missense variant	-	NC_000001.11:g.236806222C>T	gnomAD
MTR	Q99707	p.Glu111Gln	rs768491623	missense variant	-	NC_000001.11:g.236806225G>C	ExAC,gnomAD
MTR	Q99707	p.Glu111Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236806227A>C	NCI-TCGA
MTR	Q99707	p.Leu113Phe	rs1230346768	missense variant	-	NC_000001.11:g.236806233G>T	gnomAD
MTR	Q99707	p.Ala114Val	rs775926869	missense variant	-	NC_000001.11:g.236808705C>T	ExAC,gnomAD
MTR	Q99707	p.Tyr115Cys	rs761569144	missense variant	-	NC_000001.11:g.236808708A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg116Trp	rs1034987757	missense variant	-	NC_000001.11:g.236808710C>T	TOPMed,gnomAD
MTR	Q99707	p.Arg116Gln	rs1414249194	missense variant	-	NC_000001.11:g.236808711G>A	gnomAD
MTR	Q99707	p.Met117Val	rs143180799	missense variant	-	NC_000001.11:g.236808713A>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Met117Leu	rs143180799	missense variant	-	NC_000001.11:g.236808713A>C	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Met119Val	rs538707626	missense variant	-	NC_000001.11:g.236808719A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Met119Thr	rs151161326	missense variant	-	NC_000001.11:g.236808720T>C	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Cys120Gly	rs1014821687	missense variant	-	NC_000001.11:g.236808722T>G	TOPMed,gnomAD
MTR	Q99707	p.Cys120Tyr	rs1436938156	missense variant	-	NC_000001.11:g.236808723G>A	gnomAD
MTR	Q99707	p.Ala122Val	rs557603489	missense variant	-	NC_000001.11:g.236808729C>T	1000Genomes,ExAC,gnomAD
MTR	Q99707	p.Ala125Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236808737G>A	NCI-TCGA
MTR	Q99707	p.Arg126Gly	rs1365119706	missense variant	-	NC_000001.11:g.236808740A>G	gnomAD
MTR	Q99707	p.Arg126Lys	rs754871053	missense variant	-	NC_000001.11:g.236808741G>A	ExAC
MTR	Q99707	p.Ala129Pro	rs1190777785	missense variant	-	NC_000001.11:g.236808749G>C	TOPMed
MTR	Q99707	p.Glu130Lys	rs755894287	missense variant	-	NC_000001.11:g.236808752G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu130Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236808753A>T	NCI-TCGA
MTR	Q99707	p.Val132Ile	rs969895798	missense variant	-	NC_000001.11:g.236808758G>A	TOPMed,gnomAD
MTR	Q99707	p.Thr133Ser	rs777926993	missense variant	-	NC_000001.11:g.236808762C>G	ExAC,gnomAD
MTR	Q99707	p.Thr133Ala	rs1225983206	missense variant	-	NC_000001.11:g.236808761A>G	gnomAD
MTR	Q99707	p.Gln135Arg	rs1224330699	missense variant	-	NC_000001.11:g.236808768A>G	gnomAD
MTR	Q99707	p.Arg140Lys	rs986483270	missense variant	-	NC_000001.11:g.236810512G>A	TOPMed
MTR	Q99707	p.Ala143Val	rs1411468871	missense variant	-	NC_000001.11:g.236810521C>T	gnomAD
MTR	Q99707	p.Ala143Ser	rs1179107463	missense variant	-	NC_000001.11:g.236810520G>T	TOPMed
MTR	Q99707	p.Gly144Arg	rs777573171	missense variant	-	NC_000001.11:g.236810523G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gly144Trp	rs777573171	missense variant	-	NC_000001.11:g.236810523G>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala145Thr	rs754035798	missense variant	-	NC_000001.11:g.236810526G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Leu146Val	COSM1646116	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236810529C>G	NCI-TCGA Cosmic
MTR	Q99707	p.Gly147Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236810532G>T	NCI-TCGA
MTR	Q99707	p.Pro148Leu	rs757429726	missense variant	-	NC_000001.11:g.236810536C>T	ExAC,gnomAD
MTR	Q99707	p.Asn150Ser	rs1239731240	missense variant	-	NC_000001.11:g.236810542A>G	TOPMed
MTR	Q99707	p.Asn150Tyr	rs919795873	missense variant	-	NC_000001.11:g.236810541A>T	TOPMed,gnomAD
MTR	Q99707	p.Lys151Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236810546G>T	NCI-TCGA
MTR	Q99707	p.Leu153His	rs1375053659	missense variant	-	NC_000001.11:g.236810551T>A	TOPMed
MTR	Q99707	p.Ser154Cys	rs1311934439	missense variant	-	NC_000001.11:g.236810554C>G	TOPMed
MTR	Q99707	p.Ser154Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236810554C>T	NCI-TCGA
MTR	Q99707	p.Val155Met	rs1382616664	missense variant	-	NC_000001.11:g.236810556G>A	TOPMed,gnomAD
MTR	Q99707	p.Val159Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236810568G>A	NCI-TCGA
MTR	Q99707	p.Pro162Leu	rs201799064	missense variant	-	NC_000001.11:g.236810578C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro162Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236810577C>A	NCI-TCGA
MTR	Q99707	p.Asp163Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236810581A>G	NCI-TCGA
MTR	Q99707	p.Tyr164Cys	rs768925414	missense variant	-	NC_000001.11:g.236810584A>G	ExAC,gnomAD
MTR	Q99707	p.Arg165Lys	rs777016424	missense variant	-	NC_000001.11:g.236810587G>A	ExAC
MTR	Q99707	p.Asn166Ser	rs1444219431	missense variant	-	NC_000001.11:g.236810590A>G	gnomAD
MTR	Q99707	p.Ile167Phe	rs1198921722	missense variant	-	NC_000001.11:g.236810592A>T	gnomAD
MTR	Q99707	p.Phe169Ser	rs1204404590	missense variant	-	NC_000001.11:g.236812741T>C	gnomAD
MTR	Q99707	p.Asp170Tyr	rs781425281	missense variant	-	NC_000001.11:g.236812743G>T	ExAC,gnomAD
MTR	Q99707	p.Leu172Phe	rs770051707	missense variant	-	NC_000001.11:g.236812749C>T	ExAC
MTR	Q99707	p.Ala175Thr	COSM282921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236812758G>A	NCI-TCGA Cosmic
MTR	Q99707	p.Gln179Glu	rs774036304	missense variant	-	NC_000001.11:g.236812770C>G	ExAC,gnomAD
MTR	Q99707	p.Gln179His	rs745501498	missense variant	-	NC_000001.11:g.236812772G>C	ExAC,gnomAD
MTR	Q99707	p.Ala180Ser	rs1268402814	missense variant	-	NC_000001.11:g.236812773G>T	TOPMed
MTR	Q99707	p.Lys181Arg	rs1186280800	missense variant	-	NC_000001.11:g.236812777A>G	TOPMed
MTR	Q99707	p.Gly182Glu	rs566083450	missense variant	-	NC_000001.11:g.236812780G>A	1000Genomes
MTR	Q99707	p.Asp185Val	rs1453654035	missense variant	-	NC_000001.11:g.236812789A>T	gnomAD
MTR	Q99707	p.Gly186Asp	rs771598275	missense variant	-	NC_000001.11:g.236812792G>A	ExAC,gnomAD
MTR	Q99707	p.Gly187Arg	rs372174747	missense variant	-	NC_000001.11:g.236812794G>A	ESP,TOPMed,gnomAD
MTR	Q99707	p.Val188Phe	rs1351279070	missense variant	-	NC_000001.11:g.236812797G>T	gnomAD
MTR	Q99707	p.Asp189Gly	rs1209937341	missense variant	-	NC_000001.11:g.236812801A>G	TOPMed
MTR	Q99707	p.Ile190Val	rs1322149560	missense variant	-	NC_000001.11:g.236812803A>G	TOPMed
MTR	Q99707	p.Leu191Val	rs1411748840	missense variant	-	NC_000001.11:g.236812806T>G	gnomAD
MTR	Q99707	p.Ile193Met	rs764148198	missense variant	-	NC_000001.11:g.236812814T>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile196Val	rs776426879	missense variant	-	NC_000001.11:g.236812821A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp198Ter	COSM1340385	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236812821_236812822insT	NCI-TCGA Cosmic
MTR	Q99707	p.Ala200Gly	rs1331318810	missense variant	-	NC_000001.11:g.236812834C>G	TOPMed
MTR	Q99707	p.Asn201Lys	rs761706771	missense variant	-	NC_000001.11:g.236812838T>A	ExAC,gnomAD
MTR	Q99707	p.Lys203Asn	rs764918943	missense variant	-	NC_000001.11:g.236812844G>T	ExAC,gnomAD
MTR	Q99707	p.Ala205Val	rs763284188	missense variant	-	NC_000001.11:g.236815608C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala205Thr	rs773074760	missense variant	-	NC_000001.11:g.236815607G>A	ExAC,gnomAD
MTR	Q99707	p.Phe207Leu	rs148101911	missense variant	-	NC_000001.11:g.236815615T>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala208Val	rs1451672569	missense variant	-	NC_000001.11:g.236815617C>T	gnomAD
MTR	Q99707	p.Gln210Ter	rs767477474	stop gained	-	NC_000001.11:g.236815622C>T	ExAC,gnomAD
MTR	Q99707	p.Gln210Pro	rs1304651259	missense variant	-	NC_000001.11:g.236815623A>C	gnomAD
MTR	Q99707	p.Asn211Ser	rs546918671	missense variant	-	NC_000001.11:g.236815626A>G	ExAC,gnomAD
MTR	Q99707	p.Phe213Val	rs778119339	missense variant	-	NC_000001.11:g.236815631T>G	ExAC,gnomAD
MTR	Q99707	p.Phe213Ser	rs1365704680	missense variant	-	NC_000001.11:g.236815632T>C	gnomAD
MTR	Q99707	p.Glu214Gly	rs971533453	missense variant	-	NC_000001.11:g.236815635A>G	TOPMed
MTR	Q99707	p.Lys216Asn	rs1306310765	missense variant	-	NC_000001.11:g.236815642A>C	TOPMed
MTR	Q99707	p.Lys216Glu	rs1018152954	missense variant	-	NC_000001.11:g.236815640A>G	TOPMed,gnomAD
MTR	Q99707	p.Lys216Arg	rs201075948	missense variant	-	NC_000001.11:g.236815641A>G	1000Genomes,ExAC
MTR	Q99707	p.Lys216Ter	rs1018152954	stop gained	-	NC_000001.11:g.236815640A>T	TOPMed,gnomAD
MTR	Q99707	p.Ala218Ser	rs1348520797	missense variant	-	NC_000001.11:g.236815646G>T	gnomAD
MTR	Q99707	p.Pro219Ser	rs746617612	missense variant	-	NC_000001.11:g.236815649C>T	ExAC,gnomAD
MTR	Q99707	p.Arg220Gln	rs780526997	missense variant	-	NC_000001.11:g.236815653G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg220Trp	rs533191536	missense variant	-	NC_000001.11:g.236815652C>T	1000Genomes,ExAC,gnomAD
MTR	Q99707	p.Arg220Gly	rs533191536	missense variant	-	NC_000001.11:g.236815652C>G	1000Genomes,ExAC,gnomAD
MTR	Q99707	p.Arg220Gln	RCV000404047	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236815653G>A	ClinVar
MTR	Q99707	p.Pro221Ala	rs748122772	missense variant	-	NC_000001.11:g.236815655C>G	ExAC,gnomAD
MTR	Q99707	p.Ile222Val	rs1249136110	missense variant	-	NC_000001.11:g.236815658A>G	gnomAD
MTR	Q99707	p.Phe223Leu	rs977008218	missense variant	-	NC_000001.11:g.236815663T>A	TOPMed,gnomAD
MTR	Q99707	p.Ile224Val	rs777900847	missense variant	-	NC_000001.11:g.236816449A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile224Phe	rs777900847	missense variant	-	NC_000001.11:g.236816449A>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile228Val	rs773980983	missense variant	-	NC_000001.11:g.236816461A>G	ExAC,gnomAD
MTR	Q99707	p.Val229Ile	rs61736441	missense variant	-	NC_000001.11:g.236816464G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys231Arg	rs1288411041	missense variant	-	NC_000001.11:g.236816471A>G	gnomAD
MTR	Q99707	p.Thr235Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236816483C>T	NCI-TCGA
MTR	Q99707	p.Ser237Phe	COSM3485664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236816489C>T	NCI-TCGA Cosmic
MTR	Q99707	p.Gly238Arg	rs934470002	missense variant	-	NC_000001.11:g.236816491G>A	TOPMed,gnomAD
MTR	Q99707	p.Gly241Val	rs760780594	missense variant	-	NC_000001.11:g.236816501G>T	ExAC,gnomAD
MTR	Q99707	p.Glu242Lys	rs892898718	missense variant	-	NC_000001.11:g.236816503G>A	TOPMed
MTR	Q99707	p.Glu242Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236816505G>T	NCI-TCGA
MTR	Q99707	p.Ile246Val	rs374537482	missense variant	-	NC_000001.11:g.236816515A>G	ESP,TOPMed
MTR	Q99707	p.Val248Leu	rs142648132	missense variant	-	NC_000001.11:g.236816521G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val248Leu	rs142648132	missense variant	-	NC_000001.11:g.236816521G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val248Met	rs142648132	missense variant	-	NC_000001.11:g.236816521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val248Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236816522T>A	NCI-TCGA
MTR	Q99707	p.Val248Met	RCV000297160	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236816521G>A	ClinVar
MTR	Q99707	p.His250Tyr	rs1471143847	missense variant	-	NC_000001.11:g.236816527C>T	gnomAD
MTR	Q99707	p.Glu252Gly	rs758776466	missense variant	-	NC_000001.11:g.236816534A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro253Leu	rs767144332	missense variant	-	NC_000001.11:g.236816537C>T	ExAC,gnomAD
MTR	Q99707	p.Cys255Phe	rs1140598	missense variant	-	NC_000001.11:g.236816543G>T	ExAC,gnomAD
MTR	Q99707	p.Cys255Tyr	rs1140598	missense variant	-	NC_000001.11:g.236816543G>A	ExAC,gnomAD
MTR	Q99707	p.Ala265Pro	rs1382542964	missense variant	-	NC_000001.11:g.236824147G>C	TOPMed,gnomAD
MTR	Q99707	p.Ala265Thr	rs1382542964	missense variant	-	NC_000001.11:g.236824147G>A	TOPMed,gnomAD
MTR	Q99707	p.Pro269Ala	rs747235861	missense variant	-	NC_000001.11:g.236824159C>G	ExAC,gnomAD
MTR	Q99707	p.Phe270Ser	rs375009383	missense variant	-	NC_000001.11:g.236824163T>C	ESP,TOPMed
MTR	Q99707	p.Glu272Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236824169A>C	NCI-TCGA
MTR	Q99707	p.Ile274Thr	rs368380397	missense variant	-	NC_000001.11:g.236824175T>C	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Cys277Gly	rs781379829	missense variant	-	NC_000001.11:g.236824183T>G	ExAC,gnomAD
MTR	Q99707	p.Thr278Ala	rs748295087	missense variant	-	NC_000001.11:g.236824186A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Thr279Ile	rs773643586	missense variant	-	NC_000001.11:g.236824190C>T	ExAC,gnomAD
MTR	Q99707	p.Thr279Pro	rs74767314	missense variant	-	NC_000001.11:g.236824189A>C	ExAC,gnomAD
MTR	Q99707	p.Ala280Ser	COSM906093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236824192G>T	NCI-TCGA Cosmic
MTR	Q99707	p.Ala280Val	rs1312960389	missense variant	-	NC_000001.11:g.236824193C>T	gnomAD
MTR	Q99707	p.Ala280Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236824192G>A	NCI-TCGA
MTR	Q99707	p.Tyr281Cys	rs750383628	missense variant	-	NC_000001.11:g.236824196A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val282Asp	rs771234723	missense variant	-	NC_000001.11:g.236824199T>A	ExAC,gnomAD
MTR	Q99707	p.Leu283Phe	rs774793877	missense variant	-	NC_000001.11:g.236824201C>T	ExAC,gnomAD
MTR	Q99707	p.Asn287Ser	rs763902448	missense variant	-	NC_000001.11:g.236824214A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Leu290Phe	rs761484203	missense variant	-	NC_000001.11:g.236825340C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asn292Ser	rs764656039	missense variant	-	NC_000001.11:g.236825347A>G	ExAC,gnomAD
MTR	Q99707	p.Thr293Ser	rs1414665609	missense variant	-	NC_000001.11:g.236825350C>G	gnomAD
MTR	Q99707	p.Gly295Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236825355G>T	NCI-TCGA
MTR	Q99707	p.Thr300Met	rs201871910	missense variant	-	NC_000001.11:g.236825371C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro301Ala	rs766371534	missense variant	-	NC_000001.11:g.236825373C>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro301Ser	rs766371534	missense variant	-	NC_000001.11:g.236825373C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro301His	rs1331896515	missense variant	-	NC_000001.11:g.236825374C>A	gnomAD
MTR	Q99707	p.Pro301Ala	RCV000523352	missense variant	-	NC_000001.11:g.236825373C>G	ClinVar
MTR	Q99707	p.Met303Val	rs1204270455	missense variant	-	NC_000001.11:g.236825379A>G	gnomAD
MTR	Q99707	p.Met303Leu	rs1204270455	missense variant	-	NC_000001.11:g.236825379A>C	gnomAD
MTR	Q99707	p.Met304Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236825384G>C	NCI-TCGA
MTR	Q99707	p.Lys306Arg	rs956819361	missense variant	-	NC_000001.11:g.236825389A>G	TOPMed,gnomAD
MTR	Q99707	p.Lys306Asn	rs1490734103	missense variant	-	NC_000001.11:g.236825390G>C	gnomAD
MTR	Q99707	p.Lys309Asn	COSM6125210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236825399G>T	NCI-TCGA Cosmic
MTR	Q99707	p.Met313Val	rs1315441819	missense variant	-	NC_000001.11:g.236826838A>G	TOPMed,gnomAD
MTR	Q99707	p.Asp314Asn	rs2229274	missense variant	-	NC_000001.11:g.236826841G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp314Asn	RCV000755306	missense variant	-	NC_000001.11:g.236826841G>A	ClinVar
MTR	Q99707	p.Asp314Asn	RCV000431890	missense variant	-	NC_000001.11:g.236826841G>A	ClinVar
MTR	Q99707	p.Val317Asp	rs772736076	missense variant	-	NC_000001.11:g.236826851T>A	ExAC,gnomAD
MTR	Q99707	p.Asn318Ser	rs762564903	missense variant	-	NC_000001.11:g.236826854A>G	ExAC,gnomAD
MTR	Q99707	p.Ile319Thr	rs765853700	missense variant	-	NC_000001.11:g.236826857T>C	ExAC,gnomAD
MTR	Q99707	p.Ile319Val	rs1480680464	missense variant	-	NC_000001.11:g.236826856A>G	gnomAD
MTR	Q99707	p.Val320Gly	rs1249121056	missense variant	-	NC_000001.11:g.236826860T>G	gnomAD
MTR	Q99707	p.Gly321Arg	rs774296250	missense variant	-	NC_000001.11:g.236826862G>A	ExAC,gnomAD
MTR	Q99707	p.Cys324Arg	rs1443126908	missense variant	-	NC_000001.11:g.236826871T>C	gnomAD
MTR	Q99707	p.His330Arg	rs759431422	missense variant	-	NC_000001.11:g.236826890A>G	ExAC,gnomAD
MTR	Q99707	p.Ile331Thr	rs369312480	missense variant	-	NC_000001.11:g.236826893T>C	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile334Val	rs759488694	missense variant	-	NC_000001.11:g.236829193A>G	ExAC,gnomAD
MTR	Q99707	p.Val338Met	rs775255641	missense variant	-	NC_000001.11:g.236829205G>A	ExAC,gnomAD
MTR	Q99707	p.Lys339Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236829209A>C	NCI-TCGA
MTR	Q99707	p.Asn340Lys	rs1322031909	missense variant	-	NC_000001.11:g.236829213T>G	gnomAD
MTR	Q99707	p.Cys341Tyr	rs760580602	missense variant	-	NC_000001.11:g.236829215G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys342Arg	rs763742963	missense variant	-	NC_000001.11:g.236829218A>G	ExAC
MTR	Q99707	p.Pro343Ala	rs754098487	missense variant	-	NC_000001.11:g.236829220C>G	ExAC,gnomAD
MTR	Q99707	p.Arg344Ser	rs750581310	missense variant	-	NC_000001.11:g.236829225A>C	ExAC
MTR	Q99707	p.Arg344Gly	rs765431215	missense variant	-	NC_000001.11:g.236829223A>G	ExAC
MTR	Q99707	p.Arg344Thr	rs1487029117	missense variant	-	NC_000001.11:g.236829224G>C	gnomAD
MTR	Q99707	p.Val345Ile	rs145006491	missense variant	-	NC_000001.11:g.236829226G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val345Phe	rs145006491	missense variant	-	NC_000001.11:g.236829226G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val345Ile	RCV000433914	missense variant	-	NC_000001.11:g.236829226G>A	ClinVar
MTR	Q99707	p.Pro346Ser	rs575229292	missense variant	-	NC_000001.11:g.236829229C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro346Thr	rs575229292	missense variant	-	NC_000001.11:g.236829229C>A	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro346Ala	rs575229292	missense variant	-	NC_000001.11:g.236829229C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro347Ser	rs140956566	missense variant	-	NC_000001.11:g.236829232C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro347Leu	rs1322419653	missense variant	-	NC_000001.11:g.236829233C>T	TOPMed
MTR	Q99707	p.Ala350Val	rs778511598	missense variant	-	NC_000001.11:g.236829242C>T	ExAC,gnomAD
MTR	Q99707	p.Glu352Lys	rs1281675089	missense variant	-	NC_000001.11:g.236829247G>A	gnomAD
MTR	Q99707	p.Glu352Ala	COSM4029866	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236829248A>C	NCI-TCGA Cosmic
MTR	Q99707	p.Glu352Val	COSM679987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236829248A>T	NCI-TCGA Cosmic
MTR	Q99707	p.Gly353Ala	rs144839980	missense variant	-	NC_000001.11:g.236829251G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.His354Tyr	rs1345088979	missense variant	-	NC_000001.11:g.236829253C>T	gnomAD
MTR	Q99707	p.Met355Thr	rs1041544453	missense variant	-	NC_000001.11:g.236829257T>C	TOPMed,gnomAD
MTR	Q99707	p.Leu356Ser	RCV000642168	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236829260T>C	ClinVar
MTR	Q99707	p.Leu356Ser	rs1286773616	missense variant	-	NC_000001.11:g.236829260T>C	TOPMed,gnomAD
MTR	Q99707	p.Ser358Cys	COSM1296048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236829266C>G	NCI-TCGA Cosmic
MTR	Q99707	p.Gly359Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236831966G>A	NCI-TCGA
MTR	Q99707	p.Leu360Pro	rs1219794087	missense variant	-	NC_000001.11:g.236831969T>C	gnomAD
MTR	Q99707	p.Phe363Leu	rs145217819	missense variant	-	NC_000001.11:g.236831979C>A	ESP,ExAC,gnomAD
MTR	Q99707	p.Ile365Val	rs776680187	missense variant	-	NC_000001.11:g.236831983A>G	ExAC,gnomAD
MTR	Q99707	p.Gly366Arg	rs769698965	missense variant	-	NC_000001.11:g.236831986G>A	ExAC,gnomAD
MTR	Q99707	p.Pro367Leu	rs773581879	missense variant	-	NC_000001.11:g.236831990C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Tyr368His	COSM4029867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236831992T>C	NCI-TCGA Cosmic
MTR	Q99707	p.Ile374Thr	rs774244732	missense variant	-	NC_000001.11:g.236832011T>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile374Asn	rs774244732	missense variant	-	NC_000001.11:g.236832011T>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gly375SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.236832008_236832009insCATTT	NCI-TCGA
MTR	Q99707	p.Arg377Cys	rs138876566	missense variant	-	NC_000001.11:g.236832019C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg377His	rs1404315551	missense variant	-	NC_000001.11:g.236832020G>A	gnomAD
MTR	Q99707	p.Cys378Tyr	rs373066004	missense variant	-	NC_000001.11:g.236832023G>A	ESP
MTR	Q99707	p.Val380Ala	rs1170515929	missense variant	-	NC_000001.11:g.236832029T>C	gnomAD
MTR	Q99707	p.Ala381Thr	rs144777709	missense variant	-	NC_000001.11:g.236832031G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala381Thr	RCV000326202	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236832031G>A	ClinVar
MTR	Q99707	p.Ala381Thr	RCV000426813	missense variant	-	NC_000001.11:g.236832031G>A	ClinVar
MTR	Q99707	p.Ser383Leu	COSM3485665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236832038C>T	NCI-TCGA Cosmic
MTR	Q99707	p.Phe386Leu	rs1440609178	missense variant	-	NC_000001.11:g.236832046T>C	gnomAD
MTR	Q99707	p.Lys388Thr	rs1384018969	missense variant	-	NC_000001.11:g.236832053A>C	gnomAD
MTR	Q99707	p.Ala392Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236832064G>T	NCI-TCGA
MTR	Q99707	p.Asn394Ser	rs376183112	missense variant	-	NC_000001.11:g.236832071A>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Tyr395His	rs1166320999	missense variant	-	NC_000001.11:g.236832073T>C	TOPMed
MTR	Q99707	p.Tyr395Ter	rs560603359	stop gained	-	NC_000001.11:g.236832075T>G	1000Genomes,ExAC,gnomAD
MTR	Q99707	p.Tyr395Cys	rs138734002	missense variant	-	NC_000001.11:g.236832074A>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys403Glu	rs1204013940	missense variant	-	NC_000001.11:g.236835565A>G	TOPMed
MTR	Q99707	p.Val404Leu	rs950521121	missense variant	-	NC_000001.11:g.236835568G>C	gnomAD
MTR	Q99707	p.Met408Val	rs1225305753	missense variant	-	NC_000001.11:g.236835580A>G	gnomAD
MTR	Q99707	p.Ala410Pro	rs121913582	missense variant	-	NC_000001.11:g.236835586G>C	gnomAD
MTR	Q99707	p.Ala410Pro	RCV000015358	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236835586G>C	ClinVar
MTR	Q99707	p.Gln411Pro	RCV000388611	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236835590A>C	ClinVar
MTR	Q99707	p.Gln411Leu	rs886046219	missense variant	-	NC_000001.11:g.236835590A>T	TOPMed,gnomAD
MTR	Q99707	p.Gln411Pro	rs886046219	missense variant	-	NC_000001.11:g.236835590A>C	TOPMed,gnomAD
MTR	Q99707	p.Val415Ile	rs1341555423	missense variant	-	NC_000001.11:g.236835601G>A	TOPMed
MTR	Q99707	p.Asn416Lys	rs1227369146	missense variant	-	NC_000001.11:g.236835606C>A	TOPMed,gnomAD
MTR	Q99707	p.Asn416Ser	rs756065494	missense variant	-	NC_000001.11:g.236835605A>G	ExAC,gnomAD
MTR	Q99707	p.Gly420Val	rs777829409	missense variant	-	NC_000001.11:g.236835617G>T	ExAC,gnomAD
MTR	Q99707	p.Asp423Tyr	rs139054026	missense variant	-	NC_000001.11:g.236835625G>T	ESP,ExAC,TOPMed
MTR	Q99707	p.Asp423His	rs139054026	missense variant	-	NC_000001.11:g.236835625G>C	ESP,ExAC,TOPMed
MTR	Q99707	p.Ser426Gly	rs374396973	missense variant	-	NC_000001.11:g.236835634A>G	ESP,ExAC,gnomAD
MTR	Q99707	p.Ser426Ile	rs1359040450	missense variant	-	NC_000001.11:g.236835635G>T	TOPMed,gnomAD
MTR	Q99707	p.Met428Thr	rs1412197340	missense variant	-	NC_000001.11:g.236835641T>C	TOPMed
MTR	Q99707	p.Phe431Val	rs772174532	missense variant	-	NC_000001.11:g.236835649T>G	ExAC,gnomAD
MTR	Q99707	p.Asn433Ser	rs1197384348	missense variant	-	NC_000001.11:g.236835656A>G	gnomAD
MTR	Q99707	p.Ile435Val	rs1244318988	missense variant	-	NC_000001.11:g.236835661A>G	gnomAD
MTR	Q99707	p.Ala436Thr	rs1396559785	missense variant	-	NC_000001.11:g.236835664G>A	TOPMed
MTR	Q99707	p.Ser437Tyr	rs368619885	missense variant	-	NC_000001.11:g.236835668C>A	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ser437Tyr	RCV000277903	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236835668C>A	ClinVar
MTR	Q99707	p.Ser437Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236835668C>T	NCI-TCGA
MTR	Q99707	p.Glu438Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236835671A>G	NCI-TCGA
MTR	Q99707	p.Pro439Ser	rs1419293638	missense variant	-	NC_000001.11:g.236835673C>T	gnomAD
MTR	Q99707	p.Ala442Glu	rs770004849	missense variant	-	NC_000001.11:g.236835683C>A	TOPMed,gnomAD
MTR	Q99707	p.Ala442Thr	rs765580170	missense variant	-	NC_000001.11:g.236835682G>A	ExAC
MTR	Q99707	p.Ser450Ala	rs773576797	missense variant	-	NC_000001.11:g.236838432T>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ser450Tyr	rs763385094	missense variant	-	NC_000001.11:g.236838433C>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Phe453Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236838441T>G	NCI-TCGA
MTR	Q99707	p.Ile456Val	rs367759411	missense variant	-	NC_000001.11:g.236838450A>G	ESP,TOPMed
MTR	Q99707	p.Cys463Arg	rs1457604522	missense variant	-	NC_000001.11:g.236838471T>C	gnomAD
MTR	Q99707	p.Gly465Arg	rs763596787	missense variant	-	NC_000001.11:g.236838477G>A	ExAC,gnomAD
MTR	Q99707	p.Lys466Glu	rs757174271	missense variant	-	NC_000001.11:g.236838480A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys466SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.236838477G>-	NCI-TCGA
MTR	Q99707	p.Ile468Leu	rs1186986913	missense variant	-	NC_000001.11:g.236838486A>C	gnomAD
MTR	Q99707	p.Val469Ala	COSM4029868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236838490T>C	NCI-TCGA Cosmic
MTR	Q99707	p.Ile472Val	rs750261993	missense variant	-	NC_000001.11:g.236838498A>G	ExAC,gnomAD
MTR	Q99707	p.Ser473Gly	rs1203347120	missense variant	-	NC_000001.11:g.236838501A>G	TOPMed
MTR	Q99707	p.Lys475Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236838509G>T	NCI-TCGA
MTR	Q99707	p.Glu478Val	rs780315233	missense variant	-	NC_000001.11:g.236838517A>T	ExAC,gnomAD
MTR	Q99707	p.Asp480Asn	rs1310485201	missense variant	-	NC_000001.11:g.236838522G>A	TOPMed
MTR	Q99707	p.Leu482Ser	rs1311505928	missense variant	-	NC_000001.11:g.236838529T>C	gnomAD
MTR	Q99707	p.Lys484Thr	rs781291450	missense variant	-	NC_000001.11:g.236838535A>C	ExAC,gnomAD
MTR	Q99707	p.Ala485Val	rs748624850	missense variant	-	NC_000001.11:g.236838538C>T	ExAC,gnomAD
MTR	Q99707	p.Arg486Gly	rs1276939443	missense variant	-	NC_000001.11:g.236838540A>G	gnomAD
MTR	Q99707	p.Lys489Arg	rs1317830366	missense variant	-	NC_000001.11:g.236838550A>G	TOPMed,gnomAD
MTR	Q99707	p.Tyr491Cys	rs1482459791	missense variant	-	NC_000001.11:g.236838556A>G	gnomAD
MTR	Q99707	p.Tyr491ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.236838548_236838549insA	NCI-TCGA
MTR	Q99707	p.Gly492SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.236838558_236838559GG>-	NCI-TCGA
MTR	Q99707	p.Ala493Val	rs150652021	missense variant	-	NC_000001.11:g.236838562C>T	1000Genomes,ExAC
MTR	Q99707	p.Ala493ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.236838559_236838560insTCCCTATTTCTTCTTT	NCI-TCGA
MTR	Q99707	p.Met495Val	rs775291294	missense variant	-	NC_000001.11:g.236838567A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Met495Ile	rs2229275	missense variant	-	NC_000001.11:g.236838569G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Met495Lys	rs760333844	missense variant	-	NC_000001.11:g.236838568T>A	ExAC,gnomAD
MTR	Q99707	p.Val497Ala	rs1368878564	missense variant	-	NC_000001.11:g.236838574T>C	TOPMed
MTR	Q99707	p.Met498Ile	rs756215823	missense variant	-	NC_000001.11:g.236838578G>A	ExAC,gnomAD
MTR	Q99707	p.Ala499Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236838579G>A	NCI-TCGA
MTR	Q99707	p.Glu503Lys	rs1177021183	missense variant	-	NC_000001.11:g.236838591G>A	gnomAD
MTR	Q99707	p.Gly504Val	rs1360704340	missense variant	-	NC_000001.11:g.236838595G>T	gnomAD
MTR	Q99707	p.Thr509Ala	rs762838211	missense variant	-	NC_000001.11:g.236850353A>G	ExAC,gnomAD
MTR	Q99707	p.Asp510Gly	rs1251015079	missense variant	-	NC_000001.11:g.236850357A>G	gnomAD
MTR	Q99707	p.Thr511Lys	rs766183529	missense variant	-	NC_000001.11:g.236850360C>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Thr511Arg	rs766183529	missense variant	-	NC_000001.11:g.236850360C>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg514Lys	rs1016047263	missense variant	-	NC_000001.11:g.236850369G>A	TOPMed
MTR	Q99707	p.Arg514Ser	rs200479834	missense variant	-	NC_000001.11:g.236850370A>T	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Cys516Tyr	rs767845497	missense variant	-	NC_000001.11:g.236850375G>A	ExAC,gnomAD
MTR	Q99707	p.Thr517Ala	rs752846930	missense variant	-	NC_000001.11:g.236850377A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Thr517Pro	rs752846930	missense variant	-	NC_000001.11:g.236850377A>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg518Trp	rs756228585	missense variant	-	NC_000001.11:g.236850380C>T	ExAC,gnomAD
MTR	Q99707	p.Arg518Gln	rs777929463	missense variant	-	NC_000001.11:g.236850381G>A	ExAC,gnomAD
MTR	Q99707	p.Arg518GlyPheSerTerUnk	COSM1340386	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236850378C>-	NCI-TCGA Cosmic
MTR	Q99707	p.Ala519Thr	rs1308888319	missense variant	-	NC_000001.11:g.236850383G>A	TOPMed,gnomAD
MTR	Q99707	p.Ala519Ser	rs1308888319	missense variant	-	NC_000001.11:g.236850383G>T	TOPMed,gnomAD
MTR	Q99707	p.Tyr520Cys	rs1242741686	missense variant	-	NC_000001.11:g.236850387A>G	gnomAD
MTR	Q99707	p.His521Tyr	rs757891309	missense variant	-	NC_000001.11:g.236850389C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.His521Asn	rs757891309	missense variant	-	NC_000001.11:g.236850389C>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Leu522Val	rs372363134	missense variant	-	NC_000001.11:g.236850392C>G	ESP,TOPMed
MTR	Q99707	p.Leu523His	rs1378293350	missense variant	-	NC_000001.11:g.236850396T>A	TOPMed
MTR	Q99707	p.Leu523Phe	rs1418837838	missense variant	-	NC_000001.11:g.236850395C>T	TOPMed
MTR	Q99707	p.Lys525Asn	rs199700767	missense variant	-	NC_000001.11:g.236850403A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys525Asn	RCV000642166	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236850403A>T	ClinVar
MTR	Q99707	p.Asn532Asp	rs140183705	missense variant	-	NC_000001.11:g.236850422A>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp533Glu	rs747690350	missense variant	-	NC_000001.11:g.236850427C>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Phe536Leu	rs769378343	missense variant	-	NC_000001.11:g.236850436T>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp537Ala	rs1256175038	missense variant	-	NC_000001.11:g.236850438A>C	gnomAD
MTR	Q99707	p.Ile543Thr	rs200362373	missense variant	-	NC_000001.11:g.236850456T>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu548Asp	rs1284394856	missense variant	-	NC_000001.11:g.236850472G>T	TOPMed
MTR	Q99707	p.Glu549Asp	rs1171736020	missense variant	-	NC_000001.11:g.236850475A>T	TOPMed,gnomAD
MTR	Q99707	p.His550Pro	rs1351941930	missense variant	-	NC_000001.11:g.236850477A>C	TOPMed
MTR	Q99707	p.Asn551Asp	rs151031178	missense variant	-	NC_000001.11:g.236850479A>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asn551His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236850479A>C	NCI-TCGA
MTR	Q99707	p.Tyr553His	rs767156705	missense variant	-	NC_000001.11:g.236850485T>C	ExAC,gnomAD
MTR	Q99707	p.Tyr553Phe	rs752966218	missense variant	-	NC_000001.11:g.236850486A>T	ExAC,gnomAD
MTR	Q99707	p.Ile555Val	rs1407165754	missense variant	-	NC_000001.11:g.236850491A>G	TOPMed,gnomAD
MTR	Q99707	p.Phe557Ile	rs760764612	missense variant	-	NC_000001.11:g.236850497T>A	ExAC,gnomAD
MTR	Q99707	p.Thr567Ala	rs1173247715	missense variant	-	NC_000001.11:g.236852524A>G	TOPMed,gnomAD
MTR	Q99707	p.Ala571Thr	rs905213881	missense variant	-	NC_000001.11:g.236852536G>A	TOPMed,gnomAD
MTR	Q99707	p.Ile573Thr	rs776985001	missense variant	-	NC_000001.11:g.236852543T>C	ExAC,gnomAD
MTR	Q99707	p.Ser574Asn	rs1002609998	missense variant	-	NC_000001.11:g.236852546G>A	TOPMed
MTR	Q99707	p.Gly575Arg	rs942535205	missense variant	-	NC_000001.11:g.236852548G>A	gnomAD
MTR	Q99707	p.Ser578Phe	COSM425680	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236852558C>T	NCI-TCGA Cosmic
MTR	Q99707	p.Ser581Phe	rs750970961	missense variant	-	NC_000001.11:g.236852567C>T	ExAC,gnomAD
MTR	Q99707	p.Ser583Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236852573C>G	NCI-TCGA
MTR	Q99707	p.Phe584Ser	rs766888517	missense variant	-	NC_000001.11:g.236852576T>C	ExAC,gnomAD
MTR	Q99707	p.Phe584Leu	rs1479249107	missense variant	-	NC_000001.11:g.236852577C>G	TOPMed,gnomAD
MTR	Q99707	p.Arg585Gln	rs1424769753	missense variant	-	NC_000001.11:g.236852579G>A	gnomAD
MTR	Q99707	p.Arg585Ter	rs121913580	stop gained	-	NC_000001.11:g.236852578C>T	ExAC,gnomAD
MTR	Q99707	p.Arg585Ter	RCV000015356	nonsense	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236852578C>T	ClinVar
MTR	Q99707	p.Glu588Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.236852587G>T	NCI-TCGA
MTR	Q99707	p.Arg591Gln	COSM282922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236852597G>A	NCI-TCGA Cosmic
MTR	Q99707	p.Arg591Ter	rs777459947	stop gained	-	NC_000001.11:g.236852596C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Met594Val	rs531465813	missense variant	-	NC_000001.11:g.236852605A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Phe598SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.236852615T>-	NCI-TCGA
MTR	Q99707	p.Leu599Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236852620C>T	NCI-TCGA
MTR	Q99707	p.His601Arg	rs771585676	missense variant	-	NC_000001.11:g.236852627A>G	TOPMed,gnomAD
MTR	Q99707	p.Lys604Glu	rs1438404808	missense variant	-	NC_000001.11:g.236852635A>G	gnomAD
MTR	Q99707	p.Lys604Asn	rs756760475	missense variant	-	NC_000001.11:g.236852637G>C	ExAC,gnomAD
MTR	Q99707	p.Gly606Ser	COSM1296049	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236852951G>A	NCI-TCGA Cosmic
MTR	Q99707	p.Met607Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236852954A>T	NCI-TCGA
MTR	Q99707	p.Val612Ala	rs769950851	missense variant	-	NC_000001.11:g.236852970T>C	ExAC,gnomAD
MTR	Q99707	p.Asn616Ser	rs762999544	missense variant	-	NC_000001.11:g.236852982A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro618Leu	rs1410795354	missense variant	-	NC_000001.11:g.236852988C>T	TOPMed
MTR	Q99707	p.Pro618His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236852988C>A	NCI-TCGA
MTR	Q99707	p.Val619Leu	rs557853306	missense variant	-	NC_000001.11:g.236852990G>C	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val619Leu	rs557853306	missense variant	-	NC_000001.11:g.236852990G>T	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp621Gly	rs61736440	missense variant	-	NC_000001.11:g.236852997A>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.His624Arg	rs767887287	missense variant	-	NC_000001.11:g.236853006A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.His624Tyr	COSM3485666	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236853005C>T	NCI-TCGA Cosmic
MTR	Q99707	p.His624Pro	rs767887287	missense variant	-	NC_000001.11:g.236853006A>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys625Arg	rs1333077382	missense variant	-	NC_000001.11:g.236853009A>G	gnomAD
MTR	Q99707	p.Gln629Ter	rs994058849	stop gained	-	NC_000001.11:g.236853020C>T	TOPMed,gnomAD
MTR	Q99707	p.Gln629Arg	rs764859650	missense variant	-	NC_000001.11:g.236853021A>G	ExAC,gnomAD
MTR	Q99707	p.Gln629Lys	rs994058849	missense variant	-	NC_000001.11:g.236853020C>A	TOPMed,gnomAD
MTR	Q99707	p.Gln629His	rs996573287	missense variant	-	NC_000001.11:g.236853022G>T	TOPMed
MTR	Q99707	p.Asp633Tyr	rs1241969409	missense variant	-	NC_000001.11:g.236853032G>T	gnomAD
MTR	Q99707	p.Leu634Phe	rs1284198075	missense variant	-	NC_000001.11:g.236853035C>T	gnomAD
MTR	Q99707	p.Leu634Pro	rs1319174926	missense variant	-	NC_000001.11:g.236853036T>C	gnomAD
MTR	Q99707	p.Ile635Leu	rs750036310	missense variant	-	NC_000001.11:g.236853038A>C	ExAC,gnomAD
MTR	Q99707	p.Trp636Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.236853043G>A	NCI-TCGA
MTR	Q99707	p.Trp636Arg	rs757855026	missense variant	-	NC_000001.11:g.236853041T>C	ExAC,gnomAD
MTR	Q99707	p.Ala642Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236853059G>A	NCI-TCGA
MTR	Q99707	p.Arg648Cys	rs886046220	missense variant	-	NC_000001.11:g.236853077C>T	TOPMed
MTR	Q99707	p.Arg648His	rs751565093	missense variant	-	NC_000001.11:g.236853078G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg648Cys	RCV000281450	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236853077C>T	ClinVar
MTR	Q99707	p.Gln653Lys	COSM425681	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236859836C>A	NCI-TCGA Cosmic
MTR	Q99707	p.Gln653His	rs562769000	missense variant	-	NC_000001.11:g.236859838A>C	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gly654Ala	COSM425682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236859840G>C	NCI-TCGA Cosmic
MTR	Q99707	p.Thr655Ile	rs1340443868	missense variant	-	NC_000001.11:g.236859843C>T	gnomAD
MTR	Q99707	p.Gly656Ter	COSM906096	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236859845G>T	NCI-TCGA Cosmic
MTR	Q99707	p.Lys658Arg	rs1303828721	missense variant	-	NC_000001.11:g.236859852A>G	gnomAD
MTR	Q99707	p.Lys659Glu	rs777583638	missense variant	-	NC_000001.11:g.236859854A>G	ExAC,gnomAD
MTR	Q99707	p.Lys659Arg	rs749490579	missense variant	-	NC_000001.11:g.236859855A>G	ExAC,gnomAD
MTR	Q99707	p.Val660Ile	rs779073737	missense variant	-	NC_000001.11:g.236859857G>A	ExAC,gnomAD
MTR	Q99707	p.Ile661Thr	rs148897041	missense variant	-	NC_000001.11:g.236859861T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile661Ser	rs148897041	missense variant	-	NC_000001.11:g.236859861T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gln662Ter	rs141614780	stop gained	-	NC_000001.11:g.236859863C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp664Glu	rs775984505	missense variant	-	NC_000001.11:g.236859871T>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp664Gly	rs1485490753	missense variant	-	NC_000001.11:g.236859870A>G	gnomAD
MTR	Q99707	p.Trp666Cys	rs1431166735	missense variant	-	NC_000001.11:g.236859877G>C	gnomAD
MTR	Q99707	p.Trp666Cys	COSM6062061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236859877G>T	NCI-TCGA Cosmic
MTR	Q99707	p.Trp666Ter	rs1396173660	stop gained	-	NC_000001.11:g.236859876G>A	gnomAD
MTR	Q99707	p.Arg667Thr	rs1192633508	missense variant	-	NC_000001.11:g.236859879G>C	gnomAD
MTR	Q99707	p.Asn668Ter	RCV000481590	frameshift	-	NC_000001.11:g.236859882del	ClinVar
MTR	Q99707	p.Pro670Arg	rs768929086	missense variant	-	NC_000001.11:g.236859888C>G	ExAC,gnomAD
MTR	Q99707	p.Pro670Ser	rs1380513636	missense variant	-	NC_000001.11:g.236859887C>T	gnomAD
MTR	Q99707	p.Pro670Leu	rs768929086	missense variant	-	NC_000001.11:g.236859888C>T	ExAC,gnomAD
MTR	Q99707	p.Val671Ile	rs751839046	missense variant	-	NC_000001.11:g.236859890G>A	ExAC,gnomAD
MTR	Q99707	p.Glu672Lys	rs142774813	missense variant	-	NC_000001.11:g.236859893G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu672Lys	RCV000497911	missense variant	-	NC_000001.11:g.236859893G>A	ClinVar
MTR	Q99707	p.Arg674Cys	rs150058137	missense variant	-	NC_000001.11:g.236859899C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg674His	rs774231870	missense variant	-	NC_000001.11:g.236859900G>A	TOPMed
MTR	Q99707	p.Arg674Cys	rs150058137	missense variant	-	NC_000001.11:g.236859899C>T	NCI-TCGA
MTR	Q99707	p.Ala678Ser	rs759130222	missense variant	-	NC_000001.11:g.236859911G>T	ExAC,gnomAD
MTR	Q99707	p.Ala678Ser	rs759130222	missense variant	-	NC_000001.11:g.236859911G>T	NCI-TCGA
MTR	Q99707	p.Leu679Val	rs1435045766	missense variant	-	NC_000001.11:g.236859914C>G	TOPMed
MTR	Q99707	p.Leu679ThrPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000001.11:g.236859912_236859913insAACATTAATCCAGCCGTCATAAATTCGTTAAT	NCI-TCGA
MTR	Q99707	p.Val680Glu	rs1363185369	missense variant	-	NC_000001.11:g.236859918T>A	TOPMed
MTR	Q99707	p.Gly682Asp	rs113914406	missense variant	-	NC_000001.11:g.236861126G>A	gnomAD
MTR	Q99707	p.Gly682Val	rs113914406	missense variant	-	NC_000001.11:g.236861126G>T	gnomAD
MTR	Q99707	p.Gly682Cys	rs1483332114	missense variant	-	NC_000001.11:g.236861125G>T	gnomAD
MTR	Q99707	p.Glu684Ter	rs1171964412	stop gained	-	NC_000001.11:g.236861131G>T	TOPMed,gnomAD
MTR	Q99707	p.Glu684Lys	rs1171964412	missense variant	-	NC_000001.11:g.236861131G>A	TOPMed,gnomAD
MTR	Q99707	p.His686Asn	rs568232175	missense variant	-	NC_000001.11:g.236861137C>A	1000Genomes,gnomAD
MTR	Q99707	p.His686Arg	rs758672967	missense variant	-	NC_000001.11:g.236861138A>G	ExAC,gnomAD
MTR	Q99707	p.Ile687Thr	rs747181368	missense variant	-	NC_000001.11:g.236861141T>C	ExAC,gnomAD
MTR	Q99707	p.Ile687Val	rs780108847	missense variant	-	NC_000001.11:g.236861140A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile688Thr	rs1290386215	missense variant	-	NC_000001.11:g.236861144T>C	TOPMed
MTR	Q99707	p.Ile688Phe	rs1453079051	missense variant	-	NC_000001.11:g.236861143A>T	TOPMed
MTR	Q99707	p.Glu689Ter	rs1204463525	stop gained	-	NC_000001.11:g.236861146G>T	TOPMed
MTR	Q99707	p.Glu689Gly	rs1354842949	missense variant	-	NC_000001.11:g.236861147A>G	gnomAD
MTR	Q99707	p.Thr691Ile	rs1414123480	missense variant	-	NC_000001.11:g.236861153C>T	gnomAD
MTR	Q99707	p.Glu692Val	rs1348533991	missense variant	-	NC_000001.11:g.236861156A>T	TOPMed
MTR	Q99707	p.Glu693Gly	rs781728060	missense variant	-	NC_000001.11:g.236861159A>G	ExAC,gnomAD
MTR	Q99707	p.Leu696Phe	rs1212588170	missense variant	-	NC_000001.11:g.236861169A>C	gnomAD
MTR	Q99707	p.Asn697Lys	rs1230240879	missense variant	-	NC_000001.11:g.236861172C>A	TOPMed
MTR	Q99707	p.Lys699Glu	rs181920088	missense variant	-	NC_000001.11:g.236861176A>G	1000Genomes,ExAC,gnomAD
MTR	Q99707	p.Lys700IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.236861174_236861175AA>-	NCI-TCGA
MTR	Q99707	p.Lys700Gln	rs1306843324	missense variant	-	NC_000001.11:g.236861179A>C	TOPMed,gnomAD
MTR	Q99707	p.Lys700AsnPheSerTerUnk	rs772951826	frameshift	-	NC_000001.11:g.236861174A>-	NCI-TCGA,NCI-TCGA Cosmic
MTR	Q99707	p.Tyr701Asn	rs770312323	missense variant	-	NC_000001.11:g.236861182T>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro702Thr	rs1211740926	missense variant	-	NC_000001.11:g.236861185C>A	gnomAD
MTR	Q99707	p.Pro702His	rs1434632252	missense variant	-	NC_000001.11:g.236861186C>A	TOPMed
MTR	Q99707	p.Arg703Gln	rs778233369	missense variant	-	NC_000001.11:g.236861189G>A	ExAC,gnomAD
MTR	Q99707	p.Arg703Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236861189G>T	NCI-TCGA
MTR	Q99707	p.Leu705Ter	RCV000015352	frameshift	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236861193_236861194TC[1]	ClinVar
MTR	Q99707	p.Asn706Ser	rs147670189	missense variant	-	NC_000001.11:g.236861198A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile707Val	rs557777496	missense variant	-	NC_000001.11:g.236861200A>G	1000Genomes,TOPMed,gnomAD
MTR	Q99707	p.Ile708Met	COSM6125209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236861205T>G	NCI-TCGA Cosmic
MTR	Q99707	p.Ile708Val	rs774998091	missense variant	-	NC_000001.11:g.236861203A>G	ExAC,gnomAD
MTR	Q99707	p.Met716Ile	rs576084212	missense variant	-	NC_000001.11:g.236861229G>A	1000Genomes
MTR	Q99707	p.Met716Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236861229G>T	NCI-TCGA
MTR	Q99707	p.Lys717Ile	rs537133947	missense variant	-	NC_000001.11:g.236861231A>T	1000Genomes,ExAC,gnomAD
MTR	Q99707	p.Val719Ala	COSM4029871	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236861237T>C	NCI-TCGA Cosmic
MTR	Q99707	p.Val719Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236861236G>A	NCI-TCGA
MTR	Q99707	p.Asp721Tyr	COSM906099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236861242G>T	NCI-TCGA Cosmic
MTR	Q99707	p.Asp721His	rs190455607	missense variant	-	NC_000001.11:g.236861242G>C	1000Genomes
MTR	Q99707	p.Leu722Pro	rs1553321807	missense variant	-	NC_000001.11:g.236861246T>C	-
MTR	Q99707	p.Leu722Pro	RCV000642165	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236861246T>C	ClinVar
MTR	Q99707	p.Gly724Arg	rs761693980	missense variant	-	NC_000001.11:g.236861251G>A	ExAC
MTR	Q99707	p.Gly724Ala	rs144374509	missense variant	-	NC_000001.11:g.236861252G>C	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gly726Ala	rs1162023924	missense variant	-	NC_000001.11:g.236861258G>C	TOPMed
MTR	Q99707	p.Lys727Arg	rs1374925058	missense variant	-	NC_000001.11:g.236861261A>G	gnomAD
MTR	Q99707	p.Met728Val	rs759914760	missense variant	-	NC_000001.11:g.236861263A>G	TOPMed
MTR	Q99707	p.Phe729Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236861266T>C	NCI-TCGA
MTR	Q99707	p.Pro731Leu	rs1428030950	missense variant	-	NC_000001.11:g.236861273C>T	TOPMed
MTR	Q99707	p.Ile734Val	rs1286726397	missense variant	-	NC_000001.11:g.236862239A>G	TOPMed
MTR	Q99707	p.Arg738Trp	rs200803446	missense variant	-	NC_000001.11:g.236862251C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg738Pro	rs776057319	missense variant	-	NC_000001.11:g.236862252G>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg738Gln	rs776057319	missense variant	-	NC_000001.11:g.236862252G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Met740Val	rs1345387459	missense variant	-	NC_000001.11:g.236862257A>G	TOPMed,gnomAD
MTR	Q99707	p.Lys742Arg	rs569803081	missense variant	-	NC_000001.11:g.236862264A>G	1000Genomes,ExAC,gnomAD
MTR	Q99707	p.Ala743Gly	rs375809201	missense variant	-	NC_000001.11:g.236862267C>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gly745Asp	rs60599724	missense variant	-	NC_000001.11:g.236862273G>A	TOPMed,gnomAD
MTR	Q99707	p.Gly745Ala	rs60599724	missense variant	-	NC_000001.11:g.236862273G>C	TOPMed,gnomAD
MTR	Q99707	p.Leu747Pro	rs370203138	missense variant	-	NC_000001.11:g.236862279T>C	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile748Val	rs1409075366	missense variant	-	NC_000001.11:g.236862281A>G	TOPMed
MTR	Q99707	p.Ile748Thr	rs1037788544	missense variant	-	NC_000001.11:g.236862282T>C	gnomAD
MTR	Q99707	p.Pro749Leu	rs766018906	missense variant	-	NC_000001.11:g.236862285C>T	ExAC,gnomAD
MTR	Q99707	p.Pro749Ser	RCV000372535	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236862284C>T	ClinVar
MTR	Q99707	p.Pro749Ser	rs142250261	missense variant	-	NC_000001.11:g.236862284C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro749Ser	RCV000756361	missense variant	-	NC_000001.11:g.236862284C>T	ClinVar
MTR	Q99707	p.Met751Leu	COSM4916945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236862290A>T	NCI-TCGA Cosmic
MTR	Q99707	p.Lys753Glu	rs751836621	missense variant	-	NC_000001.11:g.236862296A>G	ExAC,gnomAD
MTR	Q99707	p.Thr758Ala	rs759627208	missense variant	-	NC_000001.11:g.236862311A>G	ExAC,gnomAD
MTR	Q99707	p.Arg759Thr	rs537057892	missense variant	-	NC_000001.11:g.236862315G>C	1000Genomes
MTR	Q99707	p.Arg759Ser	rs752860802	missense variant	-	NC_000001.11:g.236862316A>C	ExAC,gnomAD
MTR	Q99707	p.Arg759Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236862315G>T	NCI-TCGA
MTR	Q99707	p.Val760Leu	rs1406916579	missense variant	-	NC_000001.11:g.236862317G>C	gnomAD
MTR	Q99707	p.Val760Leu	rs1406916579	missense variant	-	NC_000001.11:g.236862317G>T	gnomAD
MTR	Q99707	p.Val760Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236862317G>A	NCI-TCGA
MTR	Q99707	p.Leu761Phe	rs372599491	missense variant	-	NC_000001.11:g.236862320C>T	ESP,TOPMed
MTR	Q99707	p.Gly763Asp	rs1447100033	missense variant	-	NC_000001.11:g.236862327G>A	gnomAD
MTR	Q99707	p.Gly763Ser	rs1393393334	missense variant	-	NC_000001.11:g.236862326G>A	TOPMed,gnomAD
MTR	Q99707	p.Thr764Lys	rs1332877404	missense variant	-	NC_000001.11:g.236862330C>A	gnomAD
MTR	Q99707	p.Val765Ala	rs931972359	missense variant	-	NC_000001.11:g.236862333T>C	gnomAD
MTR	Q99707	p.Glu767Lys	rs1051979463	missense variant	-	NC_000001.11:g.236862338G>A	gnomAD
MTR	Q99707	p.Glu767Gln	rs1051979463	missense variant	-	NC_000001.11:g.236862338G>C	gnomAD
MTR	Q99707	p.Asp769His	rs1304774938	missense variant	-	NC_000001.11:g.236863454G>C	TOPMed
MTR	Q99707	p.Pro770Leu	rs1201199584	missense variant	-	NC_000001.11:g.236863458C>T	gnomAD
MTR	Q99707	p.Gln772Glu	rs370740550	missense variant	-	NC_000001.11:g.236863463C>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gln772Arg	rs750824195	missense variant	-	NC_000001.11:g.236863464A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Thr774Ile	rs201755946	missense variant	-	NC_000001.11:g.236863470C>T	ESP,TOPMed,gnomAD
MTR	Q99707	p.Ile775Met	rs376941088	missense variant	-	NC_000001.11:g.236863474C>G	ESP,TOPMed,gnomAD
MTR	Q99707	p.Val776Leu	rs542575330	missense variant	-	NC_000001.11:g.236863475G>T	1000Genomes,TOPMed,gnomAD
MTR	Q99707	p.Val776Met	rs542575330	missense variant	-	NC_000001.11:g.236863475G>A	1000Genomes,TOPMed,gnomAD
MTR	Q99707	p.Val776Met	rs542575330	missense variant	-	NC_000001.11:g.236863475G>A	NCI-TCGA
MTR	Q99707	p.Leu777Pro	rs780836825	missense variant	-	NC_000001.11:g.236863479T>C	ExAC,gnomAD
MTR	Q99707	p.Leu777Val	rs758778075	missense variant	-	NC_000001.11:g.236863478C>G	ExAC,gnomAD
MTR	Q99707	p.Val780Ile	rs747734704	missense variant	-	NC_000001.11:g.236863487G>A	ExAC,gnomAD
MTR	Q99707	p.Lys781Glu	rs755650478	missense variant	-	NC_000001.11:g.236863490A>G	ExAC
MTR	Q99707	p.Asp783Asn	rs1376758701	missense variant	-	NC_000001.11:g.236863496G>A	TOPMed,gnomAD
MTR	Q99707	p.Val784Leu	rs940351904	missense variant	-	NC_000001.11:g.236863499G>T	TOPMed
MTR	Q99707	p.Val784Met	rs940351904	missense variant	-	NC_000001.11:g.236863499G>A	TOPMed
MTR	Q99707	p.Val784Met	rs940351904	missense variant	-	NC_000001.11:g.236863499G>A	NCI-TCGA
MTR	Q99707	p.Asp786Gly	rs1228248518	missense variant	-	NC_000001.11:g.236863506A>G	TOPMed
MTR	Q99707	p.Ile787Lys	rs989942721	missense variant	-	NC_000001.11:g.236863509T>A	TOPMed
MTR	Q99707	p.Lys789Gln	rs1271358776	missense variant	-	NC_000001.11:g.236863514A>C	TOPMed
MTR	Q99707	p.Ile791Thr	rs1339561774	missense variant	-	NC_000001.11:g.236863521T>C	TOPMed
MTR	Q99707	p.Val792Ala	rs1402296900	missense variant	-	NC_000001.11:g.236863524T>C	gnomAD
MTR	Q99707	p.Val792Ile	rs1338672336	missense variant	-	NC_000001.11:g.236863523G>A	gnomAD
MTR	Q99707	p.Val794Ala	rs754779929	missense variant	-	NC_000001.11:g.236863530T>C	ExAC,gnomAD
MTR	Q99707	p.Phe801Leu	rs771840730	missense variant	-	NC_000001.11:g.236863552C>G	ExAC,gnomAD
MTR	Q99707	p.Arg802Ter	rs138695265	stop gained	-	NC_000001.11:g.236863553C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg802Gln	rs760932771	missense variant	-	NC_000001.11:g.236863554G>A	ExAC,gnomAD
MTR	Q99707	p.Arg802Ter	rs138695265	stop gained	-	NC_000001.11:g.236863553C>T	NCI-TCGA,NCI-TCGA Cosmic
MTR	Q99707	p.Val803Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236873775T>A	NCI-TCGA
MTR	Q99707	p.Val803Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236873774G>A	NCI-TCGA
MTR	Q99707	p.Ile804Thr	rs147387989	missense variant	-	NC_000001.11:g.236873778T>C	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile804Val	rs756777494	missense variant	-	NC_000001.11:g.236873777A>G	ExAC,gnomAD
MTR	Q99707	p.Leu806Phe	rs1466875330	missense variant	-	NC_000001.11:g.236873785A>T	gnomAD
MTR	Q99707	p.Val808Ile	rs745749921	missense variant	-	NC_000001.11:g.236873789G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val808Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236873790T>C	NCI-TCGA
MTR	Q99707	p.Met809Val	rs1460525335	missense variant	-	NC_000001.11:g.236873792A>G	TOPMed
MTR	Q99707	p.Thr810Ile	rs780045682	missense variant	-	NC_000001.11:g.236873796C>T	ExAC,gnomAD
MTR	Q99707	p.Pro811Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236873799C>T	NCI-TCGA
MTR	Q99707	p.Pro811Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236873798C>T	NCI-TCGA
MTR	Q99707	p.Asp813Val	rs371648406	missense variant	-	NC_000001.11:g.236873805A>T	ESP,TOPMed
MTR	Q99707	p.Lys814Asn	COSM906101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236873809G>T	NCI-TCGA Cosmic
MTR	Q99707	p.Leu816Pro	rs1328313900	missense variant	-	NC_000001.11:g.236873814T>C	TOPMed,gnomAD
MTR	Q99707	p.Ala819Thr	rs1440455183	missense variant	-	NC_000001.11:g.236873822G>A	gnomAD
MTR	Q99707	p.Ala819Gly	rs374681119	missense variant	-	NC_000001.11:g.236873823C>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys823Arg	rs1375814843	missense variant	-	NC_000001.11:g.236873835A>G	gnomAD
MTR	Q99707	p.Lys823Gln	rs773627251	missense variant	-	NC_000001.11:g.236873834A>C	ExAC,gnomAD
MTR	Q99707	p.Lys823Asn	rs1304837503	missense variant	-	NC_000001.11:g.236873836A>C	gnomAD
MTR	Q99707	p.Ala824Thr	rs1316249870	missense variant	-	NC_000001.11:g.236873837G>A	gnomAD
MTR	Q99707	p.Asp825Val	rs1359827243	missense variant	-	NC_000001.11:g.236874726A>T	TOPMed,gnomAD
MTR	Q99707	p.Ile826Arg	rs1314739737	missense variant	-	NC_000001.11:g.236874729T>G	gnomAD
MTR	Q99707	p.Ile826Thr	rs1314739737	missense variant	-	NC_000001.11:g.236874729T>C	gnomAD
MTR	Q99707	p.Ile826Thr	rs1314739737	missense variant	-	NC_000001.11:g.236874729T>C	NCI-TCGA
MTR	Q99707	p.Gly828Ser	rs1413989228	missense variant	-	NC_000001.11:g.236874734G>A	gnomAD
MTR	Q99707	p.Leu829Met	rs1270571575	missense variant	-	NC_000001.11:g.236874737C>A	gnomAD
MTR	Q99707	p.Leu829Met	rs1270571575	missense variant	-	NC_000001.11:g.236874737C>A	NCI-TCGA
MTR	Q99707	p.Ser830Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236874740T>C	NCI-TCGA
MTR	Q99707	p.Ser830Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236874741C>T	NCI-TCGA
MTR	Q99707	p.Thr834AsnPheSerTerUnk	COSM295340	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236874751_236874752insA	NCI-TCGA Cosmic
MTR	Q99707	p.Pro835Ala	rs1363763408	missense variant	-	NC_000001.11:g.236874755C>G	gnomAD
MTR	Q99707	p.Pro835Leu	rs554037313	missense variant	-	NC_000001.11:g.236874756C>T	-
MTR	Q99707	p.Pro835Leu	rs554037313	missense variant	-	NC_000001.11:g.236874756C>T	NCI-TCGA
MTR	Q99707	p.Asp838Asn	rs759907601	missense variant	-	NC_000001.11:g.236874764G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala844Val	rs767855659	missense variant	-	NC_000001.11:g.236874783C>T	ExAC,gnomAD
MTR	Q99707	p.Lys845Arg	rs1348066051	missense variant	-	NC_000001.11:g.236874786A>G	gnomAD
MTR	Q99707	p.Glu848Gly	rs1245238169	missense variant	-	NC_000001.11:g.236874795A>G	TOPMed
MTR	Q99707	p.Ile852Val	rs753462562	missense variant	-	NC_000001.11:g.236874806A>G	ExAC,gnomAD
MTR	Q99707	p.Ile854Val	rs1042034066	missense variant	-	NC_000001.11:g.236874812A>G	TOPMed,gnomAD
MTR	Q99707	p.Ile858Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236874825T>A	NCI-TCGA
MTR	Q99707	p.Ala861Thr	rs1356020244	missense variant	-	NC_000001.11:g.236874833G>A	gnomAD
MTR	Q99707	p.Thr863Ala	rs750017801	missense variant	-	NC_000001.11:g.236874839A>G	ExAC,gnomAD
MTR	Q99707	p.Thr866Asn	rs1278918361	missense variant	-	NC_000001.11:g.236880757C>A	TOPMed
MTR	Q99707	p.Thr868Ala	rs775964876	missense variant	-	NC_000001.11:g.236880762A>G	ExAC,gnomAD
MTR	Q99707	p.Ala869Thr	rs1394559035	missense variant	-	NC_000001.11:g.236880765G>A	gnomAD
MTR	Q99707	p.Ala869Thr	rs1394559035	missense variant	-	NC_000001.11:g.236880765G>A	NCI-TCGA
MTR	Q99707	p.Ala869Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236880765G>T	NCI-TCGA
MTR	Q99707	p.Lys871Gln	COSM679982	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236880771A>C	NCI-TCGA Cosmic
MTR	Q99707	p.Pro874Leu	rs764999575	missense variant	-	NC_000001.11:g.236880781C>T	ExAC,gnomAD
MTR	Q99707	p.Pro874Leu	rs764999575	missense variant	-	NC_000001.11:g.236880781C>T	NCI-TCGA,NCI-TCGA Cosmic
MTR	Q99707	p.Arg875Ser	rs973413944	missense variant	-	NC_000001.11:g.236880785A>T	TOPMed
MTR	Q99707	p.Arg875Thr	rs1398789197	missense variant	-	NC_000001.11:g.236880784G>C	TOPMed,gnomAD
MTR	Q99707	p.Pro879Ser	rs762562065	missense variant	-	NC_000001.11:g.236880795C>T	ExAC,gnomAD
MTR	Q99707	p.Val880Ile	rs1354755505	missense variant	-	NC_000001.11:g.236880798G>A	TOPMed
MTR	Q99707	p.Val880Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236880799T>C	NCI-TCGA
MTR	Q99707	p.Ile881del	VAR_004328	inframe_deletion	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) [MIM:250940]	-	UniProt
MTR	Q99707	p.Val883Ile	rs755016532	missense variant	-	NC_000001.11:g.236880807G>A	ExAC,gnomAD
MTR	Q99707	p.Leu884Pro	rs767324169	missense variant	-	NC_000001.11:g.236880811T>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Leu884Val	rs1369682236	missense variant	-	NC_000001.11:g.236880810C>G	gnomAD
MTR	Q99707	p.Leu884TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.236880809C>-	NCI-TCGA
MTR	Q99707	p.Asp885Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236880813G>T	NCI-TCGA
MTR	Q99707	p.Ala886Thr	rs1349129209	missense variant	-	NC_000001.11:g.236880816G>A	gnomAD
MTR	Q99707	p.Ala886Val	rs1223665501	missense variant	-	NC_000001.11:g.236880817C>T	gnomAD
MTR	Q99707	p.Lys888Arg	rs201521817	missense variant	-	NC_000001.11:g.236880823A>G	ExAC,gnomAD
MTR	Q99707	p.Lys888Arg	rs201521817	missense variant	-	NC_000001.11:g.236880823A>G	NCI-TCGA
MTR	Q99707	p.Val890Ter	RCV000176521	frameshift	-	NC_000001.11:g.236880827_236880828TG[1]	ClinVar
MTR	Q99707	p.Cys893Tyr	rs1437259901	missense variant	-	NC_000001.11:g.236885122G>A	gnomAD
MTR	Q99707	p.Ser894Phe	rs757522886	missense variant	-	NC_000001.11:g.236885125C>T	ExAC,gnomAD
MTR	Q99707	p.Gln895Pro	rs146569329	missense variant	-	NC_000001.11:g.236885128A>C	ESP,TOPMed,gnomAD
MTR	Q99707	p.Gln895His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236885129G>T	NCI-TCGA
MTR	Q99707	p.Leu896Val	rs147762307	missense variant	-	NC_000001.11:g.236885130C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asn900Ser	rs758351892	missense variant	-	NC_000001.11:g.236885143A>G	ExAC,gnomAD
MTR	Q99707	p.Asp903Gly	rs149165917	missense variant	-	NC_000001.11:g.236885152A>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu904Lys	rs1169220676	missense variant	-	NC_000001.11:g.236885154G>A	gnomAD
MTR	Q99707	p.Glu904Ter	rs1169220676	stop gained	-	NC_000001.11:g.236885154G>T	gnomAD
MTR	Q99707	p.Ile909Val	rs1408861537	missense variant	-	NC_000001.11:g.236885169A>G	gnomAD
MTR	Q99707	p.Met910Val	rs748496316	missense variant	-	NC_000001.11:g.236885172A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu911Val	rs1413424353	missense variant	-	NC_000001.11:g.236885176A>T	gnomAD
MTR	Q99707	p.Glu912Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.236885178G>T	NCI-TCGA
MTR	Q99707	p.Tyr913Phe	rs1553327531	missense variant	-	NC_000001.11:g.236885182A>T	-
MTR	Q99707	p.Tyr913Phe	RCV000514691	missense variant	-	NC_000001.11:g.236885182A>T	ClinVar
MTR	Q99707	p.Glu914Ala	rs1293098779	missense variant	-	NC_000001.11:g.236885185A>C	gnomAD
MTR	Q99707	p.Asp915Val	rs977928036	missense variant	-	NC_000001.11:g.236885188A>T	TOPMed
MTR	Q99707	p.Ile916Val	rs1327327915	missense variant	-	NC_000001.11:g.236885190A>G	gnomAD
MTR	Q99707	p.Asp919His	rs923734948	missense variant	-	NC_000001.11:g.236885199G>C	TOPMed,gnomAD
MTR	Q99707	p.Asp919Gly	rs1805087	missense variant	-	NC_000001.11:g.236885200A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp919Asn	COSM290264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236885199G>A	NCI-TCGA Cosmic
MTR	Q99707	p.Asp919Gly	RCV000015355	missense variant	Neural tube defects, folate-sensitive, susceptibility to	NC_000001.11:g.236885200A>G	ClinVar
MTR	Q99707	p.Asp919Gly	rs1805087	missense variant	-	NC_000001.11:g.236885200A>G	UniProt,dbSNP
MTR	Q99707	p.Asp919Gly	VAR_004329	missense variant	-	NC_000001.11:g.236885200A>G	UniProt
MTR	Q99707	p.His920Tyr	rs121913579	missense variant	-	NC_000001.11:g.236885202C>T	gnomAD
MTR	Q99707	p.His920Asp	rs121913579	missense variant	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)	NC_000001.11:g.236885202C>G	UniProt,dbSNP
MTR	Q99707	p.His920Asp	VAR_004330	missense variant	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)	NC_000001.11:g.236885202C>G	UniProt
MTR	Q99707	p.His920Asp	rs121913579	missense variant	-	NC_000001.11:g.236885202C>G	gnomAD
MTR	Q99707	p.His920Asp	RCV000015350	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236885202C>G	ClinVar
MTR	Q99707	p.Leu924Val	rs774131379	missense variant	-	NC_000001.11:g.236885214C>G	ExAC,gnomAD
MTR	Q99707	p.Glu926Ter	rs1464185474	stop gained	-	NC_000001.11:g.236886292G>T	TOPMed,gnomAD
MTR	Q99707	p.Glu926Lys	rs1464185474	missense variant	-	NC_000001.11:g.236886292G>A	TOPMed,gnomAD
MTR	Q99707	p.Arg927Lys	rs1272883129	missense variant	-	NC_000001.11:g.236886296G>A	TOPMed
MTR	Q99707	p.Leu930Ter	rs1490057442	stop gained	-	NC_000001.11:g.236886305T>G	gnomAD
MTR	Q99707	p.Leu930Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236886306A>T	NCI-TCGA
MTR	Q99707	p.Pro931Ser	rs745470236	missense variant	-	NC_000001.11:g.236886307C>T	ExAC,gnomAD
MTR	Q99707	p.Ser933Arg	COSM4029875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236886313A>C	NCI-TCGA Cosmic
MTR	Q99707	p.Gln934Pro	rs898188536	missense variant	-	NC_000001.11:g.236886317A>C	TOPMed
MTR	Q99707	p.Gln934Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236886316C>G	NCI-TCGA
MTR	Q99707	p.Arg936Lys	rs771634129	missense variant	-	NC_000001.11:g.236886323G>A	ExAC,gnomAD
MTR	Q99707	p.Ser938Asn	rs774910076	missense variant	-	NC_000001.11:g.236886329G>A	ExAC,gnomAD
MTR	Q99707	p.Ser938Ile	rs774910076	missense variant	-	NC_000001.11:g.236886329G>T	ExAC,gnomAD
MTR	Q99707	p.Gly939Cys	rs113042166	missense variant	-	NC_000001.11:g.236886331G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gly939Arg	rs113042166	missense variant	-	NC_000001.11:g.236886331G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gly939Arg	RCV000310738	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236886331G>C	ClinVar
MTR	Q99707	p.Gln941Ter	rs1386565264	stop gained	-	NC_000001.11:g.236886337C>T	TOPMed
MTR	Q99707	p.Gln941Leu	rs761601954	missense variant	-	NC_000001.11:g.236886338A>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Met942Val	rs764978192	missense variant	-	NC_000001.11:g.236886340A>G	ExAC,gnomAD
MTR	Q99707	p.Met942Ile	rs773509459	missense variant	-	NC_000001.11:g.236886342G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Trp944Arg	COSM3418934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236886346T>A	NCI-TCGA Cosmic
MTR	Q99707	p.Trp944Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.236886348G>A	NCI-TCGA
MTR	Q99707	p.Leu945Pro	rs1440254433	missense variant	-	NC_000001.11:g.236886350T>C	TOPMed,gnomAD
MTR	Q99707	p.Leu945Arg	rs1440254433	missense variant	-	NC_000001.11:g.236886350T>G	TOPMed,gnomAD
MTR	Q99707	p.Glu947Ala	COSM6062060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236886356A>C	NCI-TCGA Cosmic
MTR	Q99707	p.Glu947Lys	rs763138510	missense variant	-	NC_000001.11:g.236886355G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu947Gln	rs763138510	missense variant	-	NC_000001.11:g.236886355G>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys952Arg	rs550823647	missense variant	-	NC_000001.11:g.236889184A>G	1000Genomes,ExAC,gnomAD
MTR	Q99707	p.Pro953Leu	COSM6062059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236889187C>T	NCI-TCGA Cosmic
MTR	Q99707	p.Pro953Ser	rs1012977522	missense variant	-	NC_000001.11:g.236889186C>T	TOPMed
MTR	Q99707	p.Thr954Pro	rs369001514	missense variant	-	NC_000001.11:g.236889189A>C	ESP,ExAC
MTR	Q99707	p.Thr954Met	rs146931200	missense variant	-	NC_000001.11:g.236889190C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Phe955Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236889192T>C	NCI-TCGA
MTR	Q99707	p.Ile956Thr	rs764628879	missense variant	-	NC_000001.11:g.236889196T>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gln959His	rs757585550	missense variant	-	NC_000001.11:g.236889206G>T	ExAC,gnomAD
MTR	Q99707	p.Gln959Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236889204C>G	NCI-TCGA
MTR	Q99707	p.Val960Phe	rs1219705047	missense variant	-	NC_000001.11:g.236889207G>T	TOPMed
MTR	Q99707	p.Tyr964His	rs779579945	missense variant	-	NC_000001.11:g.236889219T>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Tyr964Cys	rs1416094227	missense variant	-	NC_000001.11:g.236889220A>G	TOPMed,gnomAD
MTR	Q99707	p.Gln967Arg	rs780732580	missense variant	-	NC_000001.11:g.236889229A>G	ExAC,gnomAD
MTR	Q99707	p.Lys968Asn	rs747630691	missense variant	-	NC_000001.11:g.236889233G>T	ExAC,gnomAD
MTR	Q99707	p.Val970Gly	COSM3864867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236889238T>G	NCI-TCGA Cosmic
MTR	Q99707	p.Asp971Asn	rs1369853053	missense variant	-	NC_000001.11:g.236889240G>A	gnomAD
MTR	Q99707	p.Tyr972Cys	rs773190246	missense variant	-	NC_000001.11:g.236889244A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Tyr972Phe	rs773190246	missense variant	-	NC_000001.11:g.236889244A>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Trp975Ter	rs770689959	stop gained	-	NC_000001.11:g.236889253G>A	ExAC,gnomAD
MTR	Q99707	p.Trp975Arg	rs1376609534	missense variant	-	NC_000001.11:g.236889252T>C	gnomAD
MTR	Q99707	p.Trp975Cys	rs1295830969	missense variant	-	NC_000001.11:g.236889254G>C	gnomAD
MTR	Q99707	p.Pro977Ser	rs1402089177	missense variant	-	NC_000001.11:g.236889258C>T	TOPMed
MTR	Q99707	p.Val981Asp	rs1273222787	missense variant	-	NC_000001.11:g.236889271T>A	gnomAD
MTR	Q99707	p.Val981Ile	rs1201786899	missense variant	-	NC_000001.11:g.236889270G>A	gnomAD
MTR	Q99707	p.Trp982Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236889273T>A	NCI-TCGA
MTR	Q99707	p.Gln983His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236889278G>C	NCI-TCGA
MTR	Q99707	p.Arg985Trp	rs201015844	missense variant	-	NC_000001.11:g.236889282C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg985Gln	rs372611712	missense variant	-	NC_000001.11:g.236889283G>A	NCI-TCGA,NCI-TCGA Cosmic
MTR	Q99707	p.Arg985Gln	rs372611712	missense variant	-	NC_000001.11:g.236889283G>A	ESP,ExAC,gnomAD
MTR	Q99707	p.Gly986Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236889285G>A	NCI-TCGA
MTR	Q99707	p.Pro989Arg	rs772400119	missense variant	-	NC_000001.11:g.236889295C>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro989Leu	rs772400119	missense variant	-	NC_000001.11:g.236889295C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asn990Ser	rs1187400376	missense variant	-	NC_000001.11:g.236889298A>G	gnomAD
MTR	Q99707	p.Arg991Gln	rs754306872	missense variant	-	NC_000001.11:g.236889301G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg991Ter	rs536238004	stop gained	-	NC_000001.11:g.236889300C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg991Gly	rs536238004	missense variant	-	NC_000001.11:g.236889300C>G	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg991Ter	RCV000778973	nonsense	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236889300C>T	ClinVar
MTR	Q99707	p.Pro994Leu	rs1355193173	missense variant	-	NC_000001.11:g.236889310C>T	gnomAD
MTR	Q99707	p.Pro994Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236889310C>G	NCI-TCGA
MTR	Q99707	p.Lys995Thr	rs1240266731	missense variant	-	NC_000001.11:g.236889313A>C	TOPMed
MTR	Q99707	p.Lys995Glu	rs143338646	missense variant	-	NC_000001.11:g.236889312A>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asn998Ser	rs750765808	missense variant	-	NC_000001.11:g.236889322A>G	ExAC,gnomAD
MTR	Q99707	p.Asp999His	rs780820342	missense variant	-	NC_000001.11:g.236889324G>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp999Asn	rs780820342	missense variant	-	NC_000001.11:g.236889324G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys1000Gln	rs752265784	missense variant	-	NC_000001.11:g.236889327A>C	ExAC,gnomAD
MTR	Q99707	p.Lys1000Glu	rs752265784	missense variant	-	NC_000001.11:g.236889327A>G	ExAC,gnomAD
MTR	Q99707	p.Lys1000Arg	rs755595867	missense variant	-	NC_000001.11:g.236889328A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Thr1001Ser	rs1225680823	missense variant	-	NC_000001.11:g.236889330A>T	gnomAD
MTR	Q99707	p.Glu1005Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.236891138G>T	NCI-TCGA
MTR	Q99707	p.Arg1007Met	rs1006066689	missense variant	-	NC_000001.11:g.236891145G>T	gnomAD
MTR	Q99707	p.Lys1008Asn	rs755829489	missense variant	-	NC_000001.11:g.236891149G>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val1009Ile	rs755606958	missense variant	-	NC_000001.11:g.236891150G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val1009Phe	rs755606958	missense variant	-	NC_000001.11:g.236891150G>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Tyr1010His	COSM1340400	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236891153T>C	NCI-TCGA Cosmic
MTR	Q99707	p.Asp1011Asn	rs753262198	missense variant	-	NC_000001.11:g.236891156G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp1011Tyr	rs753262198	missense variant	-	NC_000001.11:g.236891156G>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp1012Val	rs201901663	missense variant	-	NC_000001.11:g.236891160A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp1012Glu	rs1177658009	missense variant	-	NC_000001.11:g.236891161T>A	gnomAD
MTR	Q99707	p.Asp1012Val	RCV000398006	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236891160A>T	ClinVar
MTR	Q99707	p.Ala1013Thr	rs1474412109	missense variant	-	NC_000001.11:g.236891162G>A	TOPMed
MTR	Q99707	p.Asn1015Ser	rs745715524	missense variant	-	NC_000001.11:g.236891169A>G	ExAC,gnomAD
MTR	Q99707	p.Asn1018Lys	rs1158020013	missense variant	-	NC_000001.11:g.236891179C>A	gnomAD
MTR	Q99707	p.Ile1021Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236891187T>A	NCI-TCGA
MTR	Q99707	p.Ser1022Asn	rs758208273	missense variant	-	NC_000001.11:g.236891190G>A	ExAC,gnomAD
MTR	Q99707	p.Leu1026Phe	rs1321050406	missense variant	-	NC_000001.11:g.236891201C>T	gnomAD
MTR	Q99707	p.Arg1027Gly	rs116836001	missense variant	-	NC_000001.11:g.236891204C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1027Trp	rs116836001	missense variant	-	NC_000001.11:g.236891204C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1027Trp	RCV000186039	missense variant	-	NC_000001.11:g.236891204C>T	ClinVar
MTR	Q99707	p.Arg1027Trp	RCV000314594	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236891204C>T	ClinVar
MTR	Q99707	p.Arg1027Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236891205G>A	NCI-TCGA
MTR	Q99707	p.Arg1027Trp	RCV000766292	missense variant	-	NC_000001.11:g.236891204C>T	ClinVar
MTR	Q99707	p.Arg1029Gln	rs768739478	missense variant	-	NC_000001.11:g.236891211G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1029Leu	rs768739478	missense variant	-	NC_000001.11:g.236891211G>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1029Trp	rs139771804	missense variant	-	NC_000001.11:g.236891210C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gly1030Ala	rs1228133073	missense variant	-	NC_000001.11:g.236891214G>C	gnomAD
MTR	Q99707	p.Val1032Ile	rs748175083	missense variant	-	NC_000001.11:g.236891219G>A	ExAC,gnomAD
MTR	Q99707	p.Gln1038Arg	rs773655262	missense variant	-	NC_000001.11:g.236891238A>G	ExAC,gnomAD
MTR	Q99707	p.Gln1038His	rs995631464	missense variant	-	NC_000001.11:g.236891239G>C	TOPMed
MTR	Q99707	p.Ser1039Arg	rs1214329587	missense variant	-	NC_000001.11:g.236891240A>C	TOPMed
MTR	Q99707	p.Ser1039Ile	rs1205215968	missense variant	-	NC_000001.11:g.236891241G>T	gnomAD
MTR	Q99707	p.Ile1040Val	rs763315904	missense variant	-	NC_000001.11:g.236891243A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gln1041Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236891247A>G	NCI-TCGA
MTR	Q99707	p.Asp1042Glu	rs529430607	missense variant	-	NC_000001.11:g.236891251C>A	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp1043Asn	rs1227536905	missense variant	-	NC_000001.11:g.236891252G>A	TOPMed
MTR	Q99707	p.His1045Tyr	rs775141970	missense variant	-	NC_000001.11:g.236891258C>T	ExAC,gnomAD
MTR	Q99707	p.Leu1046Gln	rs374527196	missense variant	-	NC_000001.11:g.236891262T>A	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Leu1046Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236891261C>A	NCI-TCGA
MTR	Q99707	p.Ala1048Thr	rs1064796193	missense variant	-	NC_000001.11:g.236891267_236891269delinsACG	-
MTR	Q99707	p.Ala1048Thr	rs756706737	missense variant	-	NC_000001.11:g.236891267G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala1048Thr	RCV000481667	missense variant	-	NC_000001.11:g.236891267_236891269delinsACG	ClinVar
MTR	Q99707	p.Ala1048Val	rs765278297	missense variant	-	NC_000001.11:g.236891268C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala1050Thr	COSM4029877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236891273G>A	NCI-TCGA Cosmic
MTR	Q99707	p.Pro1053Leu	rs948258504	missense variant	-	NC_000001.11:g.236891283C>T	TOPMed,gnomAD
MTR	Q99707	p.Ala1055Thr	rs980997415	missense variant	-	NC_000001.11:g.236891288G>A	TOPMed
MTR	Q99707	p.Ala1056Ser	rs758291602	missense variant	-	NC_000001.11:g.236891291G>T	ExAC,gnomAD
MTR	Q99707	p.Glu1057Ter	rs1242958824	stop gained	-	NC_000001.11:g.236891294G>T	gnomAD
MTR	Q99707	p.Pro1058Ser	rs780045701	missense variant	-	NC_000001.11:g.236891297C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile1059Met	rs755297063	missense variant	-	NC_000001.11:g.236891302A>G	ExAC,gnomAD
MTR	Q99707	p.Ile1059Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236891300A>G	NCI-TCGA
MTR	Q99707	p.Thr1061Ala	rs781259445	missense variant	-	NC_000001.11:g.236891306A>G	ExAC,gnomAD
MTR	Q99707	p.Thr1061Ile	rs1207523265	missense variant	-	NC_000001.11:g.236891307C>T	gnomAD
MTR	Q99707	p.Phe1062Leu	rs748276490	missense variant	-	NC_000001.11:g.236891309T>C	ExAC,gnomAD
MTR	Q99707	p.Tyr1063Cys	rs769801712	missense variant	-	NC_000001.11:g.236891313A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1066Lys	rs1204348273	missense variant	-	NC_000001.11:g.236891322G>A	TOPMed
MTR	Q99707	p.Gln1068Ter	rs749742679	stop gained	-	NC_000001.11:g.236891327C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gln1068Glu	rs749742679	missense variant	-	NC_000001.11:g.236891327C>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu1070Lys	rs1318765706	missense variant	-	NC_000001.11:g.236894360G>A	gnomAD
MTR	Q99707	p.Glu1070Gln	COSM3485668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894360G>C	NCI-TCGA Cosmic
MTR	Q99707	p.Asp1072Glu	rs1314165351	missense variant	-	NC_000001.11:g.236894368C>G	TOPMed
MTR	Q99707	p.Asp1072Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236894366G>A	NCI-TCGA
MTR	Q99707	p.Ser1073Pro	rs111465715	missense variant	-	NC_000001.11:g.236894369T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ser1073Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236894370C>G	NCI-TCGA
MTR	Q99707	p.Ser1075Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236894375A>G	NCI-TCGA
MTR	Q99707	p.Thr1076Met	rs144991102	missense variant	-	NC_000001.11:g.236894379C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Thr1076Ala	rs776369067	missense variant	-	NC_000001.11:g.236894378A>G	ExAC,gnomAD
MTR	Q99707	p.Tyr1079Ser	rs769542845	missense variant	-	NC_000001.11:g.236894388A>C	ExAC,gnomAD
MTR	Q99707	p.Tyr1079Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236894388A>T	NCI-TCGA
MTR	Q99707	p.Cys1081Tyr	COSM906104	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894394G>A	NCI-TCGA Cosmic
MTR	Q99707	p.Leu1082Phe	rs772925364	missense variant	-	NC_000001.11:g.236894396C>T	ExAC,gnomAD
MTR	Q99707	p.Ser1083Ter	COSM350005	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236894400C>G	NCI-TCGA Cosmic
MTR	Q99707	p.Phe1085Leu	rs766355068	missense variant	-	NC_000001.11:g.236894407C>A	ExAC,gnomAD
MTR	Q99707	p.Phe1085Val	rs1464089886	missense variant	-	NC_000001.11:g.236894405T>G	gnomAD
MTR	Q99707	p.Ala1087Val	rs368521476	missense variant	-	NC_000001.11:g.236894412C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala1087Thr	rs1431954928	missense variant	-	NC_000001.11:g.236894411G>A	gnomAD
MTR	Q99707	p.Pro1088Ser	rs1459148876	missense variant	-	NC_000001.11:g.236894414C>T	gnomAD
MTR	Q99707	p.His1090Arg	rs202230081	missense variant	-	NC_000001.11:g.236894421A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1094Cys	rs200363767	missense variant	-	NC_000001.11:g.236894432C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1094His	rs764803333	missense variant	-	NC_000001.11:g.236894433G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp1095Asn	COSM4029878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894435G>A	NCI-TCGA Cosmic
MTR	Q99707	p.Tyr1096His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236894438T>C	NCI-TCGA
MTR	Q99707	p.Ala1101Ser	rs1300499137	missense variant	-	NC_000001.11:g.236894453G>T	gnomAD
MTR	Q99707	p.Val1102Ile	rs757267455	missense variant	-	NC_000001.11:g.236894456G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala1103Val	rs746319355	missense variant	-	NC_000001.11:g.236894460C>T	ExAC,gnomAD
MTR	Q99707	p.Phe1105Leu	COSM906108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894465T>C	NCI-TCGA Cosmic
MTR	Q99707	p.Gly1106TrpPheSerTerUnkUnk	COSM1340401	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236894464_236894465insT	NCI-TCGA Cosmic
MTR	Q99707	p.Glu1108Gly	rs772610612	missense variant	-	NC_000001.11:g.236894475A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys1112Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236894486A>C	NCI-TCGA
MTR	Q99707	p.Ala1113Thr	rs146071220	missense variant	-	NC_000001.11:g.236894489G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala1113Thr	RCV000274727	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236894489G>A	ClinVar
MTR	Q99707	p.Tyr1114Cys	rs769629619	missense variant	-	NC_000001.11:g.236894493A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Tyr1114Ser	rs769629619	missense variant	-	NC_000001.11:g.236894493A>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu1115Asp	rs772943921	missense variant	-	NC_000001.11:g.236894497G>T	ExAC,gnomAD
MTR	Q99707	p.Asp1116Asn	rs1180496181	missense variant	-	NC_000001.11:g.236894498G>A	gnomAD
MTR	Q99707	p.Asp1120Asn	rs1167108696	missense variant	-	NC_000001.11:g.236894510G>A	gnomAD
MTR	Q99707	p.Ser1122Asn	rs1459810939	missense variant	-	NC_000001.11:g.236894517G>A	TOPMed
MTR	Q99707	p.Ser1123Ile	rs1419866583	missense variant	-	NC_000001.11:g.236894520G>T	TOPMed
MTR	Q99707	p.Met1125Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236894527G>A	NCI-TCGA
MTR	Q99707	p.Val1126Ile	rs774372450	missense variant	-	NC_000001.11:g.236894528G>A	ExAC,gnomAD
MTR	Q99707	p.Ala1128Val	rs759436870	missense variant	-	NC_000001.11:g.236894535C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala1128Ter	RCV000015354	frameshift	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236894532dup	ClinVar
MTR	Q99707	p.Leu1129Pro	rs1251129790	missense variant	-	NC_000001.11:g.236894538T>C	TOPMed
MTR	Q99707	p.Arg1132Leu	COSM6062057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236894547G>T	NCI-TCGA Cosmic
MTR	Q99707	p.Arg1132Trp	rs201991154	missense variant	-	NC_000001.11:g.236894546C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1132Gln	rs1305962485	missense variant	-	NC_000001.11:g.236894547G>A	gnomAD
MTR	Q99707	p.Leu1133Pro	rs1349592461	missense variant	-	NC_000001.11:g.236894550T>C	gnomAD
MTR	Q99707	p.Ala1136Pro	rs183827423	missense variant	-	NC_000001.11:g.236895358G>C	1000Genomes,gnomAD
MTR	Q99707	p.Ala1138Thr	rs767000295	missense variant	-	NC_000001.11:g.236895364G>A	ExAC,gnomAD
MTR	Q99707	p.Glu1140Lys	rs150123193	missense variant	-	NC_000001.11:g.236895370G>A	ESP,ExAC,gnomAD
MTR	Q99707	p.His1142Arg	rs755419209	missense variant	-	NC_000001.11:g.236895377A>G	ExAC,gnomAD
MTR	Q99707	p.His1142Tyr	rs1389451053	missense variant	-	NC_000001.11:g.236895376C>T	gnomAD
MTR	Q99707	p.Arg1144Thr	rs571114008	missense variant	-	NC_000001.11:g.236895383G>C	1000Genomes,gnomAD
MTR	Q99707	p.Arg1144Gly	rs781725496	missense variant	-	NC_000001.11:g.236895382A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1146His	rs748488313	missense variant	-	NC_000001.11:g.236895389G>A	ExAC,gnomAD
MTR	Q99707	p.Arg1146Cys	rs1465246067	missense variant	-	NC_000001.11:g.236895388C>T	gnomAD
MTR	Q99707	p.Arg1146Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236895388C>A	NCI-TCGA
MTR	Q99707	p.Arg1147Ter	rs201718371	stop gained	-	NC_000001.11:g.236895391C>T	1000Genomes,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1147Gln	rs1432236758	missense variant	-	NC_000001.11:g.236895392G>A	gnomAD
MTR	Q99707	p.Glu1148Gln	rs778610968	missense variant	-	NC_000001.11:g.236895394G>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Glu1148Val	rs1368957034	missense variant	-	NC_000001.11:g.236895395A>T	TOPMed,gnomAD
MTR	Q99707	p.Trp1150Cys	rs1311964329	missense variant	-	NC_000001.11:g.236895402G>C	gnomAD
MTR	Q99707	p.Ala1151Ser	rs1209675301	missense variant	-	NC_000001.11:g.236895403G>T	gnomAD
MTR	Q99707	p.Ala1151Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236895403G>A	NCI-TCGA
MTR	Q99707	p.Tyr1152Cys	rs771542050	missense variant	-	NC_000001.11:g.236895407A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Cys1153Arg	rs1408766569	missense variant	-	NC_000001.11:g.236895409T>C	TOPMed,gnomAD
MTR	Q99707	p.Cys1153Tyr	rs1463635806	missense variant	-	NC_000001.11:g.236895410G>A	gnomAD
MTR	Q99707	p.Gly1154Ser	rs1188027807	missense variant	-	NC_000001.11:g.236895412G>A	gnomAD
MTR	Q99707	p.Ser1155Asn	rs1478316739	missense variant	-	NC_000001.11:g.236895416G>A	gnomAD
MTR	Q99707	p.Ser1155Gly	rs369154176	missense variant	-	NC_000001.11:g.236895415A>G	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Val1160Ile	rs1159496738	missense variant	-	NC_000001.11:g.236895430G>A	TOPMed,gnomAD
MTR	Q99707	p.Ala1161Thr	rs866499126	missense variant	-	NC_000001.11:g.236895433G>A	gnomAD
MTR	Q99707	p.Arg1164Leu	rs61736326	missense variant	-	NC_000001.11:g.236895443G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1164His	rs61736326	missense variant	-	NC_000001.11:g.236895443G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1164Cys	rs761657622	missense variant	-	NC_000001.11:g.236895442C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1164His	RCV000259444	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236895443G>A	ClinVar
MTR	Q99707	p.Leu1166Val	rs12030699	missense variant	-	NC_000001.11:g.236895448C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Leu1166Met	rs12030699	missense variant	-	NC_000001.11:g.236895448C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1167Gln	rs556429682	missense variant	-	NC_000001.11:g.236895452G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1167Trp	rs751671789	missense variant	-	NC_000001.11:g.236895451C>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1167Gln	RCV000286629	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.236895452G>A	ClinVar
MTR	Q99707	p.Ile1171Val	rs753057689	missense variant	-	NC_000001.11:g.236895463A>G	ExAC,gnomAD
MTR	Q99707	p.Arg1172Cys	rs756440911	missense variant	-	NC_000001.11:g.236895466C>T	ExAC,gnomAD
MTR	Q99707	p.Arg1172Pro	rs778432496	missense variant	-	NC_000001.11:g.236895467G>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1172His	rs778432496	missense variant	-	NC_000001.11:g.236895467G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro1173Leu	rs121913578	missense variant	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)	NC_000001.11:g.236895470C>T	UniProt,dbSNP
MTR	Q99707	p.Pro1173Leu	VAR_004331	missense variant	Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)	NC_000001.11:g.236895470C>T	UniProt
MTR	Q99707	p.Pro1173Leu	rs121913578	missense variant	-	NC_000001.11:g.236895470C>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Pro1173Leu	RCV000162189	missense variant	-	NC_000001.11:g.236895470C>T	ClinVar
MTR	Q99707	p.Ala1174Thr	rs1480041419	missense variant	-	NC_000001.11:g.236895472G>A	gnomAD
MTR	Q99707	p.Ala1174Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236895472G>T	NCI-TCGA
MTR	Q99707	p.Pro1175Ala	rs1182672054	missense variant	-	NC_000001.11:g.236895475C>G	gnomAD
MTR	Q99707	p.Pro1175Ser	rs1182672054	missense variant	-	NC_000001.11:g.236895475C>T	gnomAD
MTR	Q99707	p.Pro1178Ser	rs1467474078	missense variant	-	NC_000001.11:g.236895484C>T	TOPMed
MTR	Q99707	p.Pro1178Arg	rs779588628	missense variant	-	NC_000001.11:g.236895485C>G	ExAC
MTR	Q99707	p.Asp1182Asn	rs781051354	missense variant	-	NC_000001.11:g.236895496G>A	ExAC,gnomAD
MTR	Q99707	p.Glu1185Lys	rs1410930022	missense variant	-	NC_000001.11:g.236895505G>A	gnomAD
MTR	Q99707	p.Lys1186Arg	rs769594981	missense variant	-	NC_000001.11:g.236895509A>G	ExAC,gnomAD
MTR	Q99707	p.Thr1188Ala	rs773331349	missense variant	-	NC_000001.11:g.236895514A>G	ExAC,gnomAD
MTR	Q99707	p.Met1189Thr	rs1284998184	missense variant	-	NC_000001.11:g.236895518T>C	gnomAD
MTR	Q99707	p.Arg1191Ter	rs763288919	stop gained	-	NC_000001.11:g.236895523A>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Arg1191Gly	rs763288919	missense variant	-	NC_000001.11:g.236895523A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Leu1192Ile	rs1226657558	missense variant	-	NC_000001.11:g.236895526C>A	gnomAD
MTR	Q99707	p.Ala1193Ser	rs759671198	missense variant	-	NC_000001.11:g.236895529G>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala1193Val	rs1205715453	missense variant	-	NC_000001.11:g.236895530C>T	gnomAD
MTR	Q99707	p.Ala1193Thr	rs759671198	missense variant	-	NC_000001.11:g.236895529G>A	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile1195Val	rs149476106	missense variant	-	NC_000001.11:g.236895535A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ile1195Val	RCV000606296	missense variant	-	NC_000001.11:g.236895535A>G	ClinVar
MTR	Q99707	p.Glu1196Lys	rs1180692014	missense variant	-	NC_000001.11:g.236895538G>A	gnomAD
MTR	Q99707	p.Gln1197Ter	rs1473549747	stop gained	-	NC_000001.11:g.236895541C>T	gnomAD
MTR	Q99707	p.Ser1198Cys	rs1049945606	missense variant	-	NC_000001.11:g.236895545C>G	TOPMed,gnomAD
MTR	Q99707	p.Gly1200Ala	rs1425355700	missense variant	-	NC_000001.11:g.236897006G>C	TOPMed
MTR	Q99707	p.Gly1200Ser	rs1430971744	missense variant	-	NC_000001.11:g.236895550G>A	gnomAD
MTR	Q99707	p.Ile1201Ter	RCV000732987	frameshift	-	NC_000001.11:g.236897007del	ClinVar
MTR	Q99707	p.Arg1202Ser	rs957035403	missense variant	-	NC_000001.11:g.236897013G>C	TOPMed,gnomAD
MTR	Q99707	p.Leu1203Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236897014T>A	NCI-TCGA
MTR	Q99707	p.Glu1205Gly	rs1210078406	missense variant	-	NC_000001.11:g.236897021A>G	gnomAD
MTR	Q99707	p.Glu1205Ter	rs121913581	stop gained	-	NC_000001.11:g.236897020G>T	-
MTR	Q99707	p.Glu1205Ter	RCV000015357	nonsense	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236897020G>T	ClinVar
MTR	Q99707	p.Ser1206Ter	rs751171043	stop gained	-	NC_000001.11:g.236897024C>G	ExAC,gnomAD
MTR	Q99707	p.Ala1208Thr	rs1357538863	missense variant	-	NC_000001.11:g.236897029G>A	gnomAD
MTR	Q99707	p.Met1209Val	rs754503015	missense variant	-	NC_000001.11:g.236897032A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ala1214Val	rs1256302185	missense variant	-	NC_000001.11:g.236897048C>T	TOPMed
MTR	Q99707	p.Ser1216Ter	COSM1296050	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.236897054C>G	NCI-TCGA Cosmic
MTR	Q99707	p.Gly1217Val	rs1176037522	missense variant	-	NC_000001.11:g.236897057G>T	gnomAD
MTR	Q99707	p.Phe1220Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236897067C>G	NCI-TCGA
MTR	Q99707	p.Ser1221Phe	rs938346817	missense variant	-	NC_000001.11:g.236897069C>T	TOPMed,gnomAD
MTR	Q99707	p.Ser1221Cys	rs938346817	missense variant	-	NC_000001.11:g.236897069C>G	TOPMed,gnomAD
MTR	Q99707	p.Asn1222Ser	RCV000642170	missense variant	METHYLCOBALAMIN DEFICIENCY, cblG TYPE (HMAG)	NC_000001.11:g.236897072A>G	ClinVar
MTR	Q99707	p.Asn1222Ser	rs61739582	missense variant	-	NC_000001.11:g.236897072A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ser1225Cys	rs1318631598	missense variant	-	NC_000001.11:g.236897081C>G	gnomAD
MTR	Q99707	p.Lys1226Ile	rs777562650	missense variant	-	NC_000001.11:g.236897084A>T	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys1226Arg	rs777562650	missense variant	-	NC_000001.11:g.236897084A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Lys1226Thr	rs777562650	missense variant	-	NC_000001.11:g.236897084A>C	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Tyr1227Phe	rs749112677	missense variant	-	NC_000001.11:g.236897087A>T	ExAC,gnomAD
MTR	Q99707	p.Phe1228Ser	rs1332842675	missense variant	-	NC_000001.11:g.236897090T>C	TOPMed
MTR	Q99707	p.Val1230Leu	rs138451899	missense variant	-	NC_000001.11:g.236897095G>C	ESP,ExAC,gnomAD
MTR	Q99707	p.Lys1232Asn	rs1487152848	missense variant	-	NC_000001.11:g.236897103G>C	gnomAD
MTR	Q99707	p.Lys1235Arg	rs779312137	missense variant	-	NC_000001.11:g.236897111A>G	ExAC,gnomAD
MTR	Q99707	p.Asp1236His	COSM4029879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236897113G>C	NCI-TCGA Cosmic
MTR	Q99707	p.Val1238Ile	rs370707501	missense variant	-	NC_000001.11:g.236897558G>A	ESP,TOPMed
MTR	Q99707	p.Glu1239Gln	rs1002386536	missense variant	-	NC_000001.11:g.236897561G>C	TOPMed,gnomAD
MTR	Q99707	p.Glu1239Lys	rs1002386536	missense variant	-	NC_000001.11:g.236897561G>A	TOPMed,gnomAD
MTR	Q99707	p.Tyr1241His	rs1380454043	missense variant	-	NC_000001.11:g.236897567T>C	TOPMed
MTR	Q99707	p.Asn1246Ser	rs150280831	missense variant	-	NC_000001.11:g.236897583A>G	ESP,ExAC,TOPMed
MTR	Q99707	p.Ile1247Val	rs778901727	missense variant	-	NC_000001.11:g.236897585A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Ser1248Pro	rs745627967	missense variant	-	NC_000001.11:g.236897588T>C	ExAC,gnomAD
MTR	Q99707	p.Ala1250Thr	rs1180345525	missense variant	-	NC_000001.11:g.236897594G>A	TOPMed,gnomAD
MTR	Q99707	p.Glu1251Gly	rs1387815304	missense variant	-	NC_000001.11:g.236897598A>G	gnomAD
MTR	Q99707	p.Glu1253Asp	COSM679979	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236897605G>T	NCI-TCGA Cosmic
MTR	Q99707	p.Lys1254Glu	COSM679977	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.236897606A>G	NCI-TCGA Cosmic
MTR	Q99707	p.Trp1255Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.236897610G>A	NCI-TCGA
MTR	Q99707	p.Gly1257Val	rs374409316	missense variant	-	NC_000001.11:g.236897616G>T	ESP,ExAC,TOPMed,gnomAD
MTR	Q99707	p.Gly1257Ter	rs747115857	stop gained	-	NC_000001.11:g.236897615G>T	ExAC,gnomAD
MTR	Q99707	p.Gly1257Arg	rs747115857	missense variant	-	NC_000001.11:g.236897615G>A	ExAC,gnomAD
MTR	Q99707	p.Ile1259Val	rs11799647	missense variant	-	NC_000001.11:g.236897621A>G	ExAC,TOPMed,gnomAD
MTR	Q99707	p.Asp1265Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.236897640A>T	NCI-TCGA
SMO	Q99835	p.Ala3Thr	rs562868539	missense variant	-	NC_000007.14:g.129189158G>A	1000Genomes
SMO	Q99835	p.Arg5Pro	rs1406355067	missense variant	-	NC_000007.14:g.129189165G>C	TOPMed
SMO	Q99835	p.Ala7Val	rs1317452947	missense variant	-	NC_000007.14:g.129189171C>T	TOPMed
SMO	Q99835	p.Arg8Gln	rs981209235	missense variant	-	NC_000007.14:g.129189174G>A	TOPMed
SMO	Q99835	p.Glu11Asp	rs1390945946	missense variant	-	NC_000007.14:g.129189184G>T	gnomAD
SMO	Q99835	p.Glu11Lys	rs1410118911	missense variant	-	NC_000007.14:g.129189182G>A	TOPMed
SMO	Q99835	p.Pro13Arg	rs1159103336	missense variant	-	NC_000007.14:g.129189189C>G	TOPMed
SMO	Q99835	p.Leu14Ile	rs916719717	missense variant	-	NC_000007.14:g.129189191C>A	TOPMed
SMO	Q99835	p.Leu14Phe	rs916719717	missense variant	-	NC_000007.14:g.129189191C>T	TOPMed
SMO	Q99835	p.Leu19Val	rs551830801	missense variant	-	NC_000007.14:g.129189206C>G	1000Genomes
SMO	Q99835	p.Gly24Trp	rs1486912211	missense variant	-	NC_000007.14:g.129189221G>T	gnomAD
SMO	Q99835	p.Gly24Ala	rs989530778	missense variant	-	NC_000007.14:g.129189222G>C	TOPMed
SMO	Q99835	p.Asp25Gly	rs41304185	missense variant	-	NC_000007.14:g.129189225A>G	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly27Ser	rs945565546	missense variant	-	NC_000007.14:g.129189230G>A	TOPMed,gnomAD
SMO	Q99835	p.Arg28Trp	rs1041213948	missense variant	-	NC_000007.14:g.129189233C>T	TOPMed,gnomAD
SMO	Q99835	p.Ala30Thr	rs1232615391	missense variant	-	NC_000007.14:g.129189239G>A	TOPMed,gnomAD
SMO	Q99835	p.Ala31Ser	rs1447902822	missense variant	-	NC_000007.14:g.129189242G>T	gnomAD
SMO	Q99835	p.Ser32Pro	rs1270655700	missense variant	-	NC_000007.14:g.129189245T>C	gnomAD
SMO	Q99835	p.Ser32Leu	rs1318658029	missense variant	-	NC_000007.14:g.129189246C>T	TOPMed
SMO	Q99835	p.Ser33Arg	rs587778687	missense variant	-	NC_000007.14:g.129189250C>A	TOPMed,gnomAD
SMO	Q99835	p.Ser33Arg	rs587778687	missense variant	-	NC_000007.14:g.129189250C>G	TOPMed,gnomAD
SMO	Q99835	p.Ser33Arg	RCV000122072	missense variant	-	NC_000007.14:g.129189250C>G	ClinVar
SMO	Q99835	p.Gly38Arg	rs1195189361	missense variant	-	NC_000007.14:g.129189263G>A	gnomAD
SMO	Q99835	p.Pro39Leu	rs1413825142	missense variant	-	NC_000007.14:g.129189267C>T	gnomAD
SMO	Q99835	p.Pro41Leu	rs889590959	missense variant	-	NC_000007.14:g.129189273C>T	TOPMed,gnomAD
SMO	Q99835	p.Arg42Gln	rs1173919410	missense variant	-	NC_000007.14:g.129189276G>A	TOPMed,gnomAD
SMO	Q99835	p.Ser43Ile	rs1346929661	missense variant	-	NC_000007.14:g.129189279G>T	gnomAD
SMO	Q99835	p.Ser43Arg	rs1457269002	missense variant	-	NC_000007.14:g.129189280C>G	gnomAD
SMO	Q99835	p.Ser43Gly	rs1185022695	missense variant	-	NC_000007.14:g.129189278A>G	TOPMed
SMO	Q99835	p.Gly45Cys	rs1005724350	missense variant	-	NC_000007.14:g.129189284G>T	TOPMed,gnomAD
SMO	Q99835	p.Gly45Ser	rs1005724350	missense variant	-	NC_000007.14:g.129189284G>A	TOPMed,gnomAD
SMO	Q99835	p.Ala48Gly	rs1016791682	missense variant	-	NC_000007.14:g.129189294C>G	TOPMed
SMO	Q99835	p.Ala48Thr	rs896909083	missense variant	-	NC_000007.14:g.129189293G>A	TOPMed
SMO	Q99835	p.Arg50Lys	rs1224120274	missense variant	-	NC_000007.14:g.129189300G>A	TOPMed
SMO	Q99835	p.Ala52Ser	rs1442736557	missense variant	-	NC_000007.14:g.129189305G>T	TOPMed,gnomAD
SMO	Q99835	p.Ala53Val	rs897183640	missense variant	-	NC_000007.14:g.129189309C>T	gnomAD
SMO	Q99835	p.Ala53Glu	rs897183640	missense variant	-	NC_000007.14:g.129189309C>A	gnomAD
SMO	Q99835	p.Val54Met	rs541359801	missense variant	-	NC_000007.14:g.129189311G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Thr55Ile	rs1363551380	missense variant	-	NC_000007.14:g.129189315C>T	TOPMed
SMO	Q99835	p.Gly56Ser	rs1270619742	missense variant	-	NC_000007.14:g.129189317G>A	TOPMed
SMO	Q99835	p.Pro57Ala	rs1404093690	missense variant	-	NC_000007.14:g.129189320C>G	TOPMed
SMO	Q99835	p.Pro58Thr	rs1319274889	missense variant	-	NC_000007.14:g.129189323C>A	TOPMed,gnomAD
SMO	Q99835	p.Pro58Ser	rs1319274889	missense variant	-	NC_000007.14:g.129189323C>T	TOPMed,gnomAD
SMO	Q99835	p.Pro59Gln	rs1209374394	missense variant	-	NC_000007.14:g.129189327C>A	TOPMed,gnomAD
SMO	Q99835	p.Pro60Leu	rs549592958	missense variant	-	NC_000007.14:g.129189330C>T	1000Genomes,ExAC,gnomAD
SMO	Q99835	p.Leu61Val	rs1354026626	missense variant	-	NC_000007.14:g.129189332C>G	TOPMed
SMO	Q99835	p.Leu61Gln	rs1415052819	missense variant	-	NC_000007.14:g.129189333T>A	gnomAD
SMO	Q99835	p.His63Arg	rs1463706486	missense variant	-	NC_000007.14:g.129189339A>G	gnomAD
SMO	Q99835	p.Arg66Gln	rs762329164	missense variant	-	NC_000007.14:g.129189348G>A	ExAC,gnomAD
SMO	Q99835	p.Arg66Trp	rs1215848715	missense variant	-	NC_000007.14:g.129189347C>T	gnomAD
SMO	Q99835	p.Ala68Gly	rs767938975	missense variant	-	NC_000007.14:g.129189354C>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro69Leu	rs1189276452	missense variant	-	NC_000007.14:g.129189357C>T	gnomAD
SMO	Q99835	p.Pro69Thr	rs1414227463	missense variant	-	NC_000007.14:g.129189356C>A	gnomAD
SMO	Q99835	p.Pro72Leu	rs1410003197	missense variant	-	NC_000007.14:g.129189366C>T	gnomAD
SMO	Q99835	p.Leu73Pro	rs1317785653	missense variant	-	NC_000007.14:g.129189369T>C	TOPMed,gnomAD
SMO	Q99835	p.Val77Leu	rs1409206017	missense variant	-	NC_000007.14:g.129189380G>T	gnomAD
SMO	Q99835	p.Leu79Met	rs1450533054	missense variant	-	NC_000007.14:g.129189386C>A	TOPMed,gnomAD
SMO	Q99835	p.Gly80Asp	rs1462673663	missense variant	-	NC_000007.14:g.129189390G>A	gnomAD
SMO	Q99835	p.Val82Met	rs980121505	missense variant	-	NC_000007.14:g.129189395G>A	TOPMed,gnomAD
SMO	Q99835	p.Val82Leu	rs980121505	missense variant	-	NC_000007.14:g.129189395G>C	TOPMed,gnomAD
SMO	Q99835	p.Tyr85Cys	rs1308948991	missense variant	-	NC_000007.14:g.129189405A>G	TOPMed
SMO	Q99835	p.Gly86Glu	rs1352797539	missense variant	-	NC_000007.14:g.129189408G>A	gnomAD
SMO	Q99835	p.Thr88Ser	rs1287790572	missense variant	-	NC_000007.14:g.129189413A>T	gnomAD
SMO	Q99835	p.Thr88Ile	rs1327220746	missense variant	-	NC_000007.14:g.129189414C>T	gnomAD
SMO	Q99835	p.Ser89Cys	rs751995075	missense variant	-	NC_000007.14:g.129189417C>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Leu92Arg	rs1290804201	missense variant	-	NC_000007.14:g.129189426T>G	gnomAD
SMO	Q99835	p.Gly94Arg	rs924171569	missense variant	-	NC_000007.14:g.129189431G>A	TOPMed,gnomAD
SMO	Q99835	p.Asp97Tyr	rs1234462519	missense variant	-	NC_000007.14:g.129189440G>T	gnomAD
SMO	Q99835	p.Glu100Asp	rs757650883	missense variant	-	NC_000007.14:g.129189451G>C	TOPMed,gnomAD
SMO	Q99835	p.Ala102Glu	rs1475878530	missense variant	-	NC_000007.14:g.129189456C>A	gnomAD
SMO	Q99835	p.His103Gln	rs764675802	missense variant	-	NC_000007.14:g.129189460C>G	ExAC,gnomAD
SMO	Q99835	p.Lys105Arg	rs752301811	missense variant	-	NC_000007.14:g.129189465A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Lys105Met	rs752301811	missense variant	-	NC_000007.14:g.129189465A>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val107Leu	rs757816267	missense variant	-	NC_000007.14:g.129189470G>C	ExAC
SMO	Q99835	p.Ser110Leu	rs945428238	missense variant	-	NC_000007.14:g.129189480C>T	TOPMed
SMO	Q99835	p.Leu112Pro	rs1186366060	missense variant	-	NC_000007.14:g.129203387T>C	gnomAD
SMO	Q99835	p.Arg113Gln	rs578002520	missense variant	-	NC_000007.14:g.129203390G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg113Trp	rs768850042	missense variant	-	NC_000007.14:g.129203389C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala115Val	rs1448507457	missense variant	-	NC_000007.14:g.129203396C>T	gnomAD
SMO	Q99835	p.Pro116Ser	rs1188326206	missense variant	-	NC_000007.14:g.129203398C>T	gnomAD
SMO	Q99835	p.Arg117Cys	rs912880810	missense variant	-	NC_000007.14:g.129203401C>T	TOPMed,gnomAD
SMO	Q99835	p.Arg117Gly	rs912880810	missense variant	-	NC_000007.14:g.129203401C>G	TOPMed,gnomAD
SMO	Q99835	p.Arg117His	rs1173715127	missense variant	-	NC_000007.14:g.129203402G>A	gnomAD
SMO	Q99835	p.Trp119Ter	rs1402160391	stop gained	-	NC_000007.14:g.129203409G>A	gnomAD
SMO	Q99835	p.Ala120Thr	rs1412787004	missense variant	-	NC_000007.14:g.129203410G>A	gnomAD
SMO	Q99835	p.Pro124Leu	rs1389568034	missense variant	-	NC_000007.14:g.129203423C>T	gnomAD
SMO	Q99835	p.Pro124Thr	rs915272388	missense variant	-	NC_000007.14:g.129203422C>A	TOPMed,gnomAD
SMO	Q99835	p.Leu125Arg	rs768028920	missense variant	-	NC_000007.14:g.129203426T>G	ExAC,gnomAD
SMO	Q99835	p.Cys127Tyr	rs1233842475	missense variant	-	NC_000007.14:g.129203432G>A	gnomAD
SMO	Q99835	p.Ala128Thr	rs1274135142	missense variant	-	NC_000007.14:g.129203434G>A	gnomAD
SMO	Q99835	p.Val129Leu	rs41303402	missense variant	-	NC_000007.14:g.129203437G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val129Ile	rs41303402	missense variant	-	NC_000007.14:g.129203437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Met131Val	rs1464151578	missense variant	-	NC_000007.14:g.129203443A>G	TOPMed,gnomAD
SMO	Q99835	p.Lys133Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129203451G>T	NCI-TCGA
SMO	Q99835	p.Cys134Phe	rs1206491583	missense variant	-	NC_000007.14:g.129203453G>T	gnomAD
SMO	Q99835	p.Asn136Ser	rs1453648091	missense variant	-	NC_000007.14:g.129203459A>G	gnomAD
SMO	Q99835	p.Asp137Gly	rs1200055785	missense variant	-	NC_000007.14:g.129203462A>G	gnomAD
SMO	Q99835	p.Arg138Trp	rs1377500860	missense variant	-	NC_000007.14:g.129203464C>T	TOPMed,gnomAD
SMO	Q99835	p.Arg138Gln	rs752289293	missense variant	-	NC_000007.14:g.129203465G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser143Asn	rs763536048	missense variant	-	NC_000007.14:g.129203480G>A	ExAC,gnomAD
SMO	Q99835	p.Arg144His	rs116193648	missense variant	-	NC_000007.14:g.129203483G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg144Pro	rs116193648	missense variant	-	NC_000007.14:g.129203483G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Leu146Phe	rs1387085760	missense variant	-	NC_000007.14:g.129203488C>T	gnomAD
SMO	Q99835	p.Arg151Gln	rs1288405827	missense variant	-	NC_000007.14:g.129203504G>A	TOPMed,gnomAD
SMO	Q99835	p.Arg151Ter	rs1230215072	stop gained	-	NC_000007.14:g.129203503C>T	gnomAD
SMO	Q99835	p.Gly152Arg	rs745721179	missense variant	-	NC_000007.14:g.129203506G>C	ExAC,gnomAD
SMO	Q99835	p.Pro153Ser	rs201412858	missense variant	-	NC_000007.14:g.129203509C>T	1000Genomes,ExAC,gnomAD
SMO	Q99835	p.Ala155Thr	rs1488612664	missense variant	-	NC_000007.14:g.129203515G>A	gnomAD
SMO	Q99835	p.Ala155Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129203516C>T	NCI-TCGA
SMO	Q99835	p.Ile156Val	rs749414966	missense variant	-	NC_000007.14:g.129203518A>G	ExAC,gnomAD
SMO	Q99835	p.Val157Met	rs774536425	missense variant	-	NC_000007.14:g.129203521G>A	ExAC,gnomAD
SMO	Q99835	p.Glu158Ter	rs748690872	stop gained	-	NC_000007.14:g.129203524G>T	ExAC,gnomAD
SMO	Q99835	p.Glu158Lys	rs748690872	missense variant	-	NC_000007.14:g.129203524G>A	ExAC,gnomAD
SMO	Q99835	p.Glu160Gly	rs1472282051	missense variant	-	NC_000007.14:g.129203531A>G	gnomAD
SMO	Q99835	p.Arg161Trp	rs772755154	missense variant	-	NC_000007.14:g.129203533C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg161Gln	rs773562190	missense variant	-	NC_000007.14:g.129203534G>A	ExAC,gnomAD
SMO	Q99835	p.Pro164Ser	rs761169486	missense variant	-	NC_000007.14:g.129203542C>T	ExAC,gnomAD
SMO	Q99835	p.Asp165His	rs898457097	missense variant	-	NC_000007.14:g.129203545G>C	TOPMed
SMO	Q99835	p.Phe166Ile	rs1310882621	missense variant	-	NC_000007.14:g.129203548T>A	gnomAD
SMO	Q99835	p.Phe166Tyr	rs1352254366	missense variant	-	NC_000007.14:g.129203549T>A	gnomAD
SMO	Q99835	p.Phe166Leu	rs1471540923	missense variant	-	NC_000007.14:g.129203550C>G	TOPMed
SMO	Q99835	p.Phe166Leu	COSM3878017	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129203548T>C	NCI-TCGA Cosmic
SMO	Q99835	p.Arg168Cys	rs146797066	missense variant	-	NC_000007.14:g.129203554C>T	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg168His	rs61746143	missense variant	-	NC_000007.14:g.129203555G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg168His	RCV000122080	missense variant	-	NC_000007.14:g.129203555G>A	ClinVar
SMO	Q99835	p.Cys169Gly	COSM3878018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129203557T>G	NCI-TCGA Cosmic
SMO	Q99835	p.Thr170Ala	rs763625453	missense variant	-	NC_000007.14:g.129203560A>G	ExAC,gnomAD
SMO	Q99835	p.Pro171Thr	rs751021028	missense variant	-	NC_000007.14:g.129203563C>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro171Ser	rs751021028	missense variant	-	NC_000007.14:g.129203563C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg173His	rs147491841	missense variant	-	NC_000007.14:g.129203570G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg173Cys	rs143083812	missense variant	-	NC_000007.14:g.129203569C>T	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg173His	RCV000122081	missense variant	-	NC_000007.14:g.129203570G>A	ClinVar
SMO	Q99835	p.Arg173Cys	RCV000122079	missense variant	-	NC_000007.14:g.129203569C>T	ClinVar
SMO	Q99835	p.Arg173Ser	COSM6176190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129203569C>A	NCI-TCGA Cosmic
SMO	Q99835	p.Phe174Leu	rs1243683109	missense variant	-	NC_000007.14:g.129203572T>C	gnomAD
SMO	Q99835	p.Pro175Arg	rs755992889	missense variant	-	NC_000007.14:g.129203576C>G	ExAC,gnomAD
SMO	Q99835	p.Pro175Ser	rs1357793075	missense variant	-	NC_000007.14:g.129203575C>T	gnomAD
SMO	Q99835	p.Glu176Lys	rs1227110645	missense variant	-	NC_000007.14:g.129203578G>A	TOPMed
SMO	Q99835	p.Thr179Met	rs115491500	missense variant	-	NC_000007.14:g.129203588C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asn180AsnAsnAlaTrpAspSerProMetValTerArgThrUnk	rs762864493	stop gained	-	NC_000007.14:g.129205204_129205205insCAATGCATGGGACAGTCCTATGGTATAAAGAACTG	ExAC
SMO	Q99835	p.Lys186Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205222A>C	NCI-TCGA
SMO	Q99835	p.Lys186Arg	rs771290147	missense variant	-	NC_000007.14:g.129205222A>G	ExAC,gnomAD
SMO	Q99835	p.Phe187Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205224T>A	NCI-TCGA
SMO	Q99835	p.Asn188Ser	rs1291088639	missense variant	-	NC_000007.14:g.129205228A>G	TOPMed
SMO	Q99835	p.Ser189Thr	rs781705771	missense variant	-	NC_000007.14:g.129205231G>C	ExAC,gnomAD
SMO	Q99835	p.Gly191Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205236G>C	NCI-TCGA
SMO	Q99835	p.Gly191Ser	rs746271504	missense variant	-	NC_000007.14:g.129205236G>A	ExAC,gnomAD
SMO	Q99835	p.Gly191Val	rs1401316879	missense variant	-	NC_000007.14:g.129205237G>T	TOPMed
SMO	Q99835	p.Gln192His	rs770138808	missense variant	-	NC_000007.14:g.129205241G>C	ExAC,gnomAD
SMO	Q99835	p.Cys193Tyr	rs1432526925	missense variant	-	NC_000007.14:g.129205243G>A	gnomAD
SMO	Q99835	p.Glu194Lys	rs761395599	missense variant	-	NC_000007.14:g.129205245G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val195Met	rs138284001	missense variant	-	NC_000007.14:g.129205248G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val195Ala	rs760210773	missense variant	-	NC_000007.14:g.129205249T>C	ExAC,gnomAD
SMO	Q99835	p.Pro196Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205251C>T	NCI-TCGA
SMO	Q99835	p.Arg199Trp	rs201246258	missense variant	-	NC_000007.14:g.129205260C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg199Gln	rs759466401	missense variant	-	NC_000007.14:g.129205261G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg199Pro	rs759466401	missense variant	-	NC_000007.14:g.129205261G>C	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asn202Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205271C>A	NCI-TCGA
SMO	Q99835	p.Asn202Ser	rs765069727	missense variant	-	NC_000007.14:g.129205270A>G	ExAC,gnomAD
SMO	Q99835	p.Lys204Asn	rs758505705	missense variant	-	NC_000007.14:g.129205277G>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Lys204Asn	rs758505705	missense variant	-	NC_000007.14:g.129205277G>C	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Lys204Arg	rs752969507	missense variant	-	NC_000007.14:g.129205276A>G	ExAC,gnomAD
SMO	Q99835	p.Trp206Ter	rs751636409	stop gained	-	NC_000007.14:g.129205283G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Glu208Lys	rs878919378	missense variant	-	NC_000007.14:g.129205287G>A	TOPMed,gnomAD
SMO	Q99835	p.Asp209Tyr	COSM744582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205290G>T	NCI-TCGA Cosmic
SMO	Q99835	p.Val210Met	rs1247135717	missense variant	-	NC_000007.14:g.129205293G>A	gnomAD
SMO	Q99835	p.Gly212Ala	rs746359530	missense variant	-	NC_000007.14:g.129205300G>C	ExAC,gnomAD
SMO	Q99835	p.Gly214Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205306G>A	NCI-TCGA
SMO	Q99835	p.Gly214Ser	rs370713652	missense variant	-	NC_000007.14:g.129205305G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ile215Met	COSM3831857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205310C>G	NCI-TCGA Cosmic
SMO	Q99835	p.Gln216Glu	rs1298414584	missense variant	-	NC_000007.14:g.129205311C>G	TOPMed
SMO	Q99835	p.Gln216Arg	rs55789540	missense variant	-	NC_000007.14:g.129205312A>G	TOPMed
SMO	Q99835	p.Asn219Lys	rs747822476	missense variant	-	NC_000007.14:g.129205322C>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro220Leu	rs200359079	missense variant	-	NC_000007.14:g.129205324C>T	1000Genomes,TOPMed,gnomAD
SMO	Q99835	p.Glu224Lys	rs1404842660	missense variant	-	NC_000007.14:g.129205335G>A	gnomAD
SMO	Q99835	p.Glu224Asp	rs148484943	missense variant	-	NC_000007.14:g.129205337G>T	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Glu224Asp	RCV000122082	missense variant	-	NC_000007.14:g.129205337G>T	ClinVar
SMO	Q99835	p.His227Tyr	rs770465007	missense variant	-	NC_000007.14:g.129205344C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gln228Glu	rs776727010	missense variant	-	NC_000007.14:g.129205347C>G	ExAC,gnomAD
SMO	Q99835	p.Gln228Ter	rs776727010	stop gained	-	NC_000007.14:g.129205347C>T	ExAC,gnomAD
SMO	Q99835	p.Gln228Arg	rs759482801	missense variant	-	NC_000007.14:g.129205348A>G	ExAC,gnomAD
SMO	Q99835	p.Met230Val	rs1461296028	missense variant	-	NC_000007.14:g.129205353A>G	TOPMed
SMO	Q99835	p.Ala235Val	rs142599757	missense variant	-	NC_000007.14:g.129205369C>T	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala235Thr	rs762783453	missense variant	-	NC_000007.14:g.129205368G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Phe237Leu	rs146006039	missense variant	-	NC_000007.14:g.129205376C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly238Arg	rs750931655	missense variant	-	NC_000007.14:g.129205377G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly238Glu	rs1180824222	missense variant	-	NC_000007.14:g.129205378G>A	gnomAD
SMO	Q99835	p.Ala239Thr	rs1473560603	missense variant	-	NC_000007.14:g.129205380G>A	gnomAD
SMO	Q99835	p.Val240Leu	rs376509030	missense variant	-	NC_000007.14:g.129205383G>C	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val240Ile	rs376509030	missense variant	-	NC_000007.14:g.129205383G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly242Ala	rs1372875534	missense variant	-	NC_000007.14:g.129205390G>C	gnomAD
SMO	Q99835	p.Gly242Cys	rs1162076106	missense variant	-	NC_000007.14:g.129205389G>T	gnomAD
SMO	Q99835	p.Gly242Ser	rs1162076106	missense variant	-	NC_000007.14:g.129205389G>A	gnomAD
SMO	Q99835	p.Thr245Met	rs765318599	missense variant	-	NC_000007.14:g.129205399C>T	ExAC,gnomAD
SMO	Q99835	p.Thr248Ser	rs1282154899	missense variant	-	NC_000007.14:g.129205408C>G	TOPMed
SMO	Q99835	p.Phe252Leu	rs370649261	missense variant	-	NC_000007.14:g.129205618C>G	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val253Met	rs1312610843	missense variant	-	NC_000007.14:g.129205619G>A	TOPMed
SMO	Q99835	p.Trp256Ter	rs753152001	stop gained	-	NC_000007.14:g.129205629G>A	ExAC,gnomAD
SMO	Q99835	p.Trp256Arg	COSM3878019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205628T>C	NCI-TCGA Cosmic
SMO	Q99835	p.Arg257Trp	rs1428746507	missense variant	-	NC_000007.14:g.129205631C>T	gnomAD
SMO	Q99835	p.Arg257Gln	rs758800465	missense variant	-	NC_000007.14:g.129205632G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser259Leu	COSM3878021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205638C>T	NCI-TCGA Cosmic
SMO	Q99835	p.Arg261His	rs779548739	missense variant	-	NC_000007.14:g.129205644G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg261Cys	rs755698791	missense variant	-	NC_000007.14:g.129205643C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Tyr262Phe	rs749213205	missense variant	-	NC_000007.14:g.129205647A>T	ExAC,gnomAD
SMO	Q99835	p.Ala264Ser	COSM1448010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205652G>T	NCI-TCGA Cosmic
SMO	Q99835	p.Ile266Thr	rs1320851344	missense variant	-	NC_000007.14:g.129205659T>C	gnomAD
SMO	Q99835	p.Phe268Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205664T>C	NCI-TCGA
SMO	Q99835	p.Tyr269Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.129205669C>A	NCI-TCGA
SMO	Q99835	p.Val270Ile	rs111694017	missense variant	-	NC_000007.14:g.129205670G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val270Ile	RCV000122083	missense variant	-	NC_000007.14:g.129205670G>A	ClinVar
SMO	Q99835	p.Asn271Ser	rs1192199125	missense variant	-	NC_000007.14:g.129205674A>G	gnomAD
SMO	Q99835	p.Ala272Glu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205677C>A	NCI-TCGA
SMO	Q99835	p.Ala272Val	rs748004767	missense variant	-	NC_000007.14:g.129205677C>T	ExAC,gnomAD
SMO	Q99835	p.Cys273Phe	rs1373021910	missense variant	-	NC_000007.14:g.129205680G>T	TOPMed
SMO	Q99835	p.Cys273Trp	rs1453813978	missense variant	-	NC_000007.14:g.129205681C>G	gnomAD
SMO	Q99835	p.Phe274Cys	rs1191616925	missense variant	-	NC_000007.14:g.129205683T>G	TOPMed
SMO	Q99835	p.Phe275Leu	rs951840772	missense variant	-	NC_000007.14:g.129205685T>C	TOPMed
SMO	Q99835	p.Ile279Thr	rs145388517	missense variant	-	NC_000007.14:g.129205698T>C	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly280Ser	rs1268833300	missense variant	-	NC_000007.14:g.129205700G>A	gnomAD
SMO	Q99835	p.Gly280Cys	COSM1312676	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205700G>T	NCI-TCGA Cosmic
SMO	Q99835	p.Trp281Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.129205705G>A	NCI-TCGA
SMO	Q99835	p.Trp281Cys	rs770949067	missense variant	-	NC_000007.14:g.129205705G>C	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala283Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205709G>T	NCI-TCGA
SMO	Q99835	p.Met286Thr	rs759508731	missense variant	-	NC_000007.14:g.129205719T>C	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asp287His	COSM4844427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205721G>C	NCI-TCGA Cosmic
SMO	Q99835	p.Ala289Gly	rs1356706860	missense variant	-	NC_000007.14:g.129205728C>G	TOPMed
SMO	Q99835	p.Arg290Cys	rs1156577972	missense variant	-	NC_000007.14:g.129205730C>T	TOPMed,gnomAD
SMO	Q99835	p.Arg290His	rs775852783	missense variant	-	NC_000007.14:g.129205731G>A	ExAC,gnomAD
SMO	Q99835	p.Arg291Gln	rs948837758	missense variant	-	NC_000007.14:g.129205734G>A	TOPMed,gnomAD
SMO	Q99835	p.Arg291Ter	rs1405848770	stop gained	-	NC_000007.14:g.129205733C>T	gnomAD
SMO	Q99835	p.Arg291Leu	rs948837758	missense variant	-	NC_000007.14:g.129205734G>T	TOPMed,gnomAD
SMO	Q99835	p.Ile293Phe	rs1278882875	missense variant	-	NC_000007.14:g.129205739A>T	TOPMed
SMO	Q99835	p.Val294Phe	rs764495218	missense variant	-	NC_000007.14:g.129205742G>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val294Ala	rs1325709268	missense variant	-	NC_000007.14:g.129205743T>C	TOPMed
SMO	Q99835	p.Val294Ile	rs764495218	missense variant	-	NC_000007.14:g.129205742G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Cys295Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205746G>C	NCI-TCGA
SMO	Q99835	p.Arg296Leu	rs772693769	missense variant	-	NC_000007.14:g.129205749G>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg296His	rs772693769	missense variant	-	NC_000007.14:g.129205749G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg296Cys	rs372843274	missense variant	-	NC_000007.14:g.129205748C>T	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala297Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205752C>T	NCI-TCGA
SMO	Q99835	p.Met301Thr	rs778968208	missense variant	-	NC_000007.14:g.129205764T>C	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Met301Arg	rs778968208	missense variant	-	NC_000007.14:g.129205764T>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Met301Val	rs754444361	missense variant	-	NC_000007.14:g.129205763A>G	ExAC,gnomAD
SMO	Q99835	p.Arg302Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129205767G>A	NCI-TCGA
SMO	Q99835	p.Leu303Phe	rs748021309	missense variant	-	NC_000007.14:g.129205769C>T	ExAC,gnomAD
SMO	Q99835	p.Leu303Ile	COSM1085428	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129205769C>A	NCI-TCGA Cosmic
SMO	Q99835	p.Thr307Ala	rs146911173	missense variant	-	NC_000007.14:g.129205781A>G	ESP,ExAC,gnomAD
SMO	Q99835	p.Thr307Ile	rs201012381	missense variant	-	NC_000007.14:g.129205782C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asn309Ser	rs555149421	missense variant	-	NC_000007.14:g.129206155A>G	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val315Ile	rs765279156	missense variant	-	NC_000007.14:g.129206172G>A	TOPMed,gnomAD
SMO	Q99835	p.Ile316Val	rs777668516	missense variant	-	NC_000007.14:g.129206175A>G	ExAC,gnomAD
SMO	Q99835	p.Val321Met	rs1307431013	missense variant	-	NC_000007.14:g.129206190G>A	gnomAD
SMO	Q99835	p.Val321Leu	rs1307431013	missense variant	-	NC_000007.14:g.129206190G>T	gnomAD
SMO	Q99835	p.Tyr322Ter	rs746016396	stop gained	-	NC_000007.14:g.129206195C>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Leu325Pro	rs369361865	missense variant	-	NC_000007.14:g.129206203T>C	ESP,ExAC,gnomAD
SMO	Q99835	p.Ala327Thr	rs371993481	missense variant	-	NC_000007.14:g.129206208G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly328Ala	rs1260869369	missense variant	-	NC_000007.14:g.129206212G>C	gnomAD
SMO	Q99835	p.Gly328Asp	COSM1645392	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206212G>A	NCI-TCGA Cosmic
SMO	Q99835	p.Val329Gly	rs769334511	missense variant	-	NC_000007.14:g.129206215T>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val334Ile	rs774996267	missense variant	-	NC_000007.14:g.129206229G>A	ExAC,gnomAD
SMO	Q99835	p.Val334Gly	rs1401528754	missense variant	-	NC_000007.14:g.129206230T>G	TOPMed
SMO	Q99835	p.Thr336Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129206235A>G	NCI-TCGA
SMO	Q99835	p.His340Tyr	rs762297325	missense variant	-	NC_000007.14:g.129206247C>T	ExAC,gnomAD
SMO	Q99835	p.His340Asn	rs762297325	missense variant	-	NC_000007.14:g.129206247C>A	ExAC,gnomAD
SMO	Q99835	p.Thr341Ala	rs1390410557	missense variant	-	NC_000007.14:g.129206250A>G	gnomAD
SMO	Q99835	p.Leu346Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129206266T>G	NCI-TCGA
SMO	Q99835	p.Thr348Pro	rs764753855	missense variant	-	NC_000007.14:g.129206271A>C	ExAC,TOPMed
SMO	Q99835	p.Thr349Pro	rs752255586	missense variant	-	NC_000007.14:g.129206274A>C	ExAC
SMO	Q99835	p.Thr349Ala	rs752255586	missense variant	-	NC_000007.14:g.129206274A>G	ExAC
SMO	Q99835	p.Tyr350Ser	rs201916476	missense variant	-	NC_000007.14:g.129206278A>C	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Tyr350Cys	rs201916476	missense variant	-	NC_000007.14:g.129206278A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gln351Lys	rs751483603	missense variant	-	NC_000007.14:g.129206280C>A	ExAC,gnomAD
SMO	Q99835	p.Leu353Val	rs757084526	missense variant	-	NC_000007.14:g.129206286C>G	ExAC,gnomAD
SMO	Q99835	p.Ser354Leu	rs200099832	missense variant	-	NC_000007.14:g.129206290C>T	gnomAD
SMO	Q99835	p.Gly355Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129206292G>C	NCI-TCGA
SMO	Q99835	p.Gly355Ser	rs958979411	missense variant	-	NC_000007.14:g.129206292G>A	-
SMO	Q99835	p.His361Tyr	rs756239310	missense variant	-	NC_000007.14:g.129206310C>T	ExAC,gnomAD
SMO	Q99835	p.Leu362Arg	COSM6108668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206314T>G	NCI-TCGA Cosmic
SMO	Q99835	p.Leu363Phe	rs780399753	missense variant	-	NC_000007.14:g.129206316C>T	ExAC,gnomAD
SMO	Q99835	p.Pro368Ala	rs374812951	missense variant	-	NC_000007.14:g.129206331C>G	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro368Ser	rs374812951	missense variant	-	NC_000007.14:g.129206331C>T	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Phe369Tyr	rs1479795628	missense variant	-	NC_000007.14:g.129206335T>A	gnomAD
SMO	Q99835	p.Val373Met	rs748537025	missense variant	-	NC_000007.14:g.129206346G>A	ExAC,gnomAD
SMO	Q99835	p.Ile375Val	rs957422674	missense variant	-	NC_000007.14:g.129206352A>G	TOPMed,gnomAD
SMO	Q99835	p.Ile375Asn	rs1268449742	missense variant	-	NC_000007.14:g.129206353T>A	TOPMed
SMO	Q99835	p.Val378Met	rs146823157	missense variant	-	NC_000007.14:g.129206361G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala379Val	rs761081288	missense variant	-	NC_000007.14:g.129206365C>T	ExAC,gnomAD
SMO	Q99835	p.Asp382Asn	rs1371471706	missense variant	-	NC_000007.14:g.129206467G>A	gnomAD
SMO	Q99835	p.Asp382Gly	rs1247814517	missense variant	-	NC_000007.14:g.129206468A>G	gnomAD
SMO	Q99835	p.Asp382Tyr	rs1371471706	missense variant	-	NC_000007.14:g.129206467G>T	gnomAD
SMO	Q99835	p.Val386Gly	rs773684844	missense variant	-	NC_000007.14:g.129206480T>G	ExAC,gnomAD
SMO	Q99835	p.Val386Met	rs1312696920	missense variant	-	NC_000007.14:g.129206479G>A	gnomAD
SMO	Q99835	p.Ser387Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129206483G>C	NCI-TCGA
SMO	Q99835	p.Ser387Asn	rs761361549	missense variant	-	NC_000007.14:g.129206483G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly393Asp	rs1275067872	missense variant	-	NC_000007.14:g.129206501G>A	gnomAD
SMO	Q99835	p.Tyr394His	COSM3878023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206503T>C	NCI-TCGA Cosmic
SMO	Q99835	p.Asn396Ser	rs1203228554	missense variant	-	NC_000007.14:g.129206510A>G	TOPMed,gnomAD
SMO	Q99835	p.Asn396Thr	rs1203228554	missense variant	-	NC_000007.14:g.129206510A>C	TOPMed,gnomAD
SMO	Q99835	p.Tyr397Cys	rs773189809	missense variant	-	NC_000007.14:g.129206513A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Tyr397Ter	COSM6176189	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.129206514C>A	NCI-TCGA Cosmic
SMO	Q99835	p.Arg398Ter	rs1199769385	stop gained	-	NC_000007.14:g.129206515C>T	TOPMed
SMO	Q99835	p.Arg398Gln	rs760560948	missense variant	-	NC_000007.14:g.129206516G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg400Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129206522G>T	NCI-TCGA
SMO	Q99835	p.Arg400His	rs754146515	missense variant	-	NC_000007.14:g.129206522G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg400Cys	rs766211091	missense variant	-	NC_000007.14:g.129206521C>T	ExAC,gnomAD
SMO	Q99835	p.Ala401Thr	rs755206241	missense variant	-	NC_000007.14:g.129206524G>A	ExAC,gnomAD
SMO	Q99835	p.Ala401Val	rs765478037	missense variant	-	NC_000007.14:g.129206525C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly402Asp	rs1328275322	missense variant	-	NC_000007.14:g.129206528G>A	gnomAD
SMO	Q99835	p.Gly402Cys	rs1410545715	missense variant	-	NC_000007.14:g.129206527G>T	gnomAD
SMO	Q99835	p.Val404Leu	rs1044964080	missense variant	-	NC_000007.14:g.129206533G>C	TOPMed,gnomAD
SMO	Q99835	p.Val404Met	rs1044964080	missense variant	-	NC_000007.14:g.129206533G>A	TOPMed,gnomAD
SMO	Q99835	p.Ala406Thr	rs757620819	missense variant	-	NC_000007.14:g.129206539G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ile408Val	rs748959667	missense variant	-	NC_000007.14:g.129206545A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly409Ser	rs1213477185	missense variant	-	NC_000007.14:g.129206548G>A	gnomAD
SMO	Q99835	p.Val411Ala	rs1325213272	missense variant	-	NC_000007.14:g.129206555T>C	TOPMed,gnomAD
SMO	Q99835	p.Val411Met	rs1270338441	missense variant	-	NC_000007.14:g.129206554G>A	gnomAD
SMO	Q99835	p.Leu412Phe	rs879255280	missense variant	Curry-Jones syndrome (CRJS)	NC_000007.14:g.129206557C>T	UniProt,dbSNP
SMO	Q99835	p.Leu412Phe	VAR_077087	missense variant	Curry-Jones syndrome (CRJS)	NC_000007.14:g.129206557C>T	UniProt
SMO	Q99835	p.Leu412Phe	rs879255280	missense variant	-	NC_000007.14:g.129206557C>T	-
SMO	Q99835	p.Leu412Pro	rs1203946691	missense variant	-	NC_000007.14:g.129206558T>C	gnomAD
SMO	Q99835	p.Leu412Phe	RCV000236033	missense variant	Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development (CRJS)	NC_000007.14:g.129206557C>T	ClinVar
SMO	Q99835	p.Val414Met	rs1461109867	missense variant	-	NC_000007.14:g.129206563G>A	TOPMed,gnomAD
SMO	Q99835	p.Val414Ala	COSM6108667	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206564T>C	NCI-TCGA Cosmic
SMO	Q99835	p.Gly415Glu	rs370601251	missense variant	-	NC_000007.14:g.129206567G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly415Ala	COSM3831859	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129206567G>C	NCI-TCGA Cosmic
SMO	Q99835	p.Gly416Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129206569G>T	NCI-TCGA
SMO	Q99835	p.Tyr417Ter	rs1167385575	stop gained	-	NC_000007.14:g.129206574C>A	gnomAD
SMO	Q99835	p.Leu419Phe	rs1382535412	missense variant	-	NC_000007.14:g.129206578C>T	TOPMed
SMO	Q99835	p.Arg421Gln	rs968935409	missense variant	-	NC_000007.14:g.129206585G>A	TOPMed,gnomAD
SMO	Q99835	p.Val423Ile	rs781646841	missense variant	-	NC_000007.14:g.129208761G>A	ExAC,gnomAD
SMO	Q99835	p.Val423Phe	rs781646841	missense variant	-	NC_000007.14:g.129208761G>T	ExAC,gnomAD
SMO	Q99835	p.Thr425Ile	rs778444675	missense variant	-	NC_000007.14:g.129208768C>T	ExAC,gnomAD
SMO	Q99835	p.Lys430Arg	rs1347338942	missense variant	-	NC_000007.14:g.129208783A>G	gnomAD
SMO	Q99835	p.Gly435Arg	rs1029412439	missense variant	-	NC_000007.14:g.129208797G>A	TOPMed
SMO	Q99835	p.Leu436Met	rs1343241795	missense variant	-	NC_000007.14:g.129208800C>A	gnomAD
SMO	Q99835	p.Ser438Gly	rs1279802916	missense variant	-	NC_000007.14:g.129208806A>G	TOPMed,gnomAD
SMO	Q99835	p.Glu439Lys	COSM452321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129208809G>A	NCI-TCGA Cosmic
SMO	Q99835	p.Lys440Arg	rs776710632	missense variant	-	NC_000007.14:g.129208813A>G	ExAC,gnomAD
SMO	Q99835	p.Lys440Asn	rs1374043825	missense variant	-	NC_000007.14:g.129208814G>C	TOPMed,gnomAD
SMO	Q99835	p.Lys444Asn	rs1284416222	missense variant	-	NC_000007.14:g.129208826G>C	gnomAD
SMO	Q99835	p.Asn446Lys	rs536563919	missense variant	-	NC_000007.14:g.129208832C>G	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asn446Ser	rs759466497	missense variant	-	NC_000007.14:g.129208831A>G	ExAC,gnomAD
SMO	Q99835	p.Glu447Lys	rs1006687669	missense variant	-	NC_000007.14:g.129208833G>A	TOPMed,gnomAD
SMO	Q99835	p.Met449Thr	rs930201798	missense variant	-	NC_000007.14:g.129208840T>C	TOPMed
SMO	Q99835	p.Met449Val	rs1016878137	missense variant	-	NC_000007.14:g.129208839A>G	TOPMed
SMO	Q99835	p.Arg451Cys	rs763192441	missense variant	-	NC_000007.14:g.129208845C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg451His	rs1204546630	missense variant	-	NC_000007.14:g.129208846G>A	TOPMed
SMO	Q99835	p.Arg451Ser	COSM6108666	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129208845C>A	NCI-TCGA Cosmic
SMO	Q99835	p.Leu452Pro	rs1262352194	missense variant	-	NC_000007.14:g.129208849T>C	TOPMed
SMO	Q99835	p.Phe457Ser	rs1252025906	missense variant	-	NC_000007.14:g.129209301T>C	TOPMed,gnomAD
SMO	Q99835	p.Ala459Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129209306G>T	NCI-TCGA
SMO	Q99835	p.Leu464Phe	rs1196940337	missense variant	-	NC_000007.14:g.129209321C>T	gnomAD
SMO	Q99835	p.Thr466Ala	rs867910815	missense variant	-	NC_000007.14:g.129209327A>G	TOPMed
SMO	Q99835	p.Thr466Asn	COSM6176188	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129209328C>A	NCI-TCGA Cosmic
SMO	Q99835	p.Ser468Thr	rs773739100	missense variant	-	NC_000007.14:g.129209334G>C	ExAC,gnomAD
SMO	Q99835	p.Ser468Gly	COSM3878025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129209333A>G	NCI-TCGA Cosmic
SMO	Q99835	p.Phe471Val	rs1304391104	missense variant	-	NC_000007.14:g.129209342T>G	TOPMed
SMO	Q99835	p.Asp473His	rs17710891	missense variant	-	NC_000007.14:g.129209348G>C	UniProt,dbSNP
SMO	Q99835	p.Asp473His	VAR_037891	missense variant	-	NC_000007.14:g.129209348G>C	UniProt
SMO	Q99835	p.Asp473His	rs17710891	missense variant	-	NC_000007.14:g.129209348G>C	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asp473Asn	rs17710891	missense variant	-	NC_000007.14:g.129209348G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asp473His	RCV000441195	missense variant	Basal cell carcinoma	NC_000007.14:g.129209348G>C	ClinVar
SMO	Q99835	p.Asp473Asn	RCV000122084	missense variant	-	NC_000007.14:g.129209348G>A	ClinVar
SMO	Q99835	p.Asp473His	RCV000431122	missense variant	Medulloblastoma (MDB)	NC_000007.14:g.129209348G>C	ClinVar
SMO	Q99835	p.Asn476His	rs1316076818	missense variant	-	NC_000007.14:g.129209357A>C	TOPMed
SMO	Q99835	p.Asn476Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129209359C>G	NCI-TCGA
SMO	Q99835	p.Trp480Ter	rs759391766	stop gained	-	NC_000007.14:g.129209370G>A	TOPMed
SMO	Q99835	p.Arg482Cys	rs755295928	missense variant	-	NC_000007.14:g.129209375C>T	ExAC,gnomAD
SMO	Q99835	p.Arg482Ser	rs755295928	missense variant	-	NC_000007.14:g.129209375C>A	ExAC,gnomAD
SMO	Q99835	p.Arg482His	rs763900781	missense variant	-	NC_000007.14:g.129209376G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser483Ile	rs1406380496	missense variant	-	NC_000007.14:g.129209379G>T	gnomAD
SMO	Q99835	p.Arg485Trp	rs756828715	missense variant	-	NC_000007.14:g.129209384C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg485Gln	rs780804609	missense variant	-	NC_000007.14:g.129209385G>A	ExAC,gnomAD
SMO	Q99835	p.Asp486Asn	rs1193567638	missense variant	-	NC_000007.14:g.129209387G>A	gnomAD
SMO	Q99835	p.Val488Met	rs552604250	missense variant	-	NC_000007.14:g.129209393G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Cys490Ter	COSM1085434	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.129210366T>A	NCI-TCGA Cosmic
SMO	Q99835	p.Asn493Ser	rs749120623	missense variant	-	NC_000007.14:g.129210374A>G	ExAC,gnomAD
SMO	Q99835	p.Thr495Ser	rs891306097	missense variant	-	NC_000007.14:g.129210380C>G	TOPMed
SMO	Q99835	p.Ile496Val	rs1479888709	missense variant	-	NC_000007.14:g.129210382A>G	gnomAD
SMO	Q99835	p.Gly497Arg	rs377573054	missense variant	-	NC_000007.14:g.129210385G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Leu498Val	rs1160371442	missense variant	-	NC_000007.14:g.129210388C>G	gnomAD
SMO	Q99835	p.Pro499Ser	rs576639096	missense variant	-	NC_000007.14:g.129210391C>T	1000Genomes,ExAC,gnomAD
SMO	Q99835	p.Pro499Leu	rs1418457699	missense variant	-	NC_000007.14:g.129210392C>T	gnomAD
SMO	Q99835	p.Pro505Leu	rs1435873545	missense variant	-	NC_000007.14:g.129210410C>T	gnomAD
SMO	Q99835	p.Glu508Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129210420G>T	NCI-TCGA
SMO	Q99835	p.Lys510Glu	rs1291948600	missense variant	-	NC_000007.14:g.129210424A>G	gnomAD
SMO	Q99835	p.Arg512His	rs777204354	missense variant	-	NC_000007.14:g.129210431G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg512Leu	rs777204354	missense variant	-	NC_000007.14:g.129210431G>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg512Cys	rs1018551272	missense variant	-	NC_000007.14:g.129210430C>T	TOPMed
SMO	Q99835	p.Ser514Cys	rs537363837	missense variant	-	NC_000007.14:g.129210436A>T	1000Genomes,ExAC,gnomAD
SMO	Q99835	p.Ser514Arg	rs537363837	missense variant	-	NC_000007.14:g.129210436A>C	1000Genomes,ExAC,gnomAD
SMO	Q99835	p.Ser514Asn	rs776043436	missense variant	-	NC_000007.14:g.129210437G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser514Arg	rs1187720431	missense variant	-	NC_000007.14:g.129210438C>G	TOPMed
SMO	Q99835	p.Leu516Val	rs559229569	missense variant	-	NC_000007.14:g.129210442C>G	1000Genomes,ExAC,gnomAD
SMO	Q99835	p.Leu516Pro	rs767343673	missense variant	-	NC_000007.14:g.129210443T>C	ExAC,gnomAD
SMO	Q99835	p.Ile520Thr	rs750029091	missense variant	-	NC_000007.14:g.129210455T>C	ExAC,gnomAD
SMO	Q99835	p.Ile520Val	rs1218748049	missense variant	-	NC_000007.14:g.129210454A>G	gnomAD
SMO	Q99835	p.Phe523Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129210464T>G	NCI-TCGA
SMO	Q99835	p.Ala524Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129210467C>A	NCI-TCGA
SMO	Q99835	p.Phe526Leu	rs760245355	missense variant	-	NC_000007.14:g.129210474T>A	ExAC,gnomAD
SMO	Q99835	p.Thr528Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129210479C>A	NCI-TCGA
SMO	Q99835	p.Thr528Ala	COSM3633168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129210478A>G	NCI-TCGA Cosmic
SMO	Q99835	p.Ala531Thr	rs370484649	missense variant	-	NC_000007.14:g.129210487G>A	ESP,ExAC,gnomAD
SMO	Q99835	p.Ser533Asn	COSM13144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129210494G>A	NCI-TCGA Cosmic
SMO	Q99835	p.Trp535Leu	rs121918347	missense variant	-	NC_000007.14:g.129210500G>T	UniProt,dbSNP
SMO	Q99835	p.Trp535Leu	VAR_007848	missense variant	-	NC_000007.14:g.129210500G>T	UniProt
SMO	Q99835	p.Trp535Leu	rs121918347	missense variant	-	NC_000007.14:g.129210500G>T	-
SMO	Q99835	p.Trp535Leu	RCV000008586	missense variant	Basal cell carcinoma, somatic	NC_000007.14:g.129210500G>T	ClinVar
SMO	Q99835	p.Val536Ala	rs754958172	missense variant	-	NC_000007.14:g.129210503T>C	ExAC,gnomAD
SMO	Q99835	p.Val536Ile	rs1367686794	missense variant	-	NC_000007.14:g.129210502G>A	TOPMed,gnomAD
SMO	Q99835	p.Ala540Val	rs778791846	missense variant	-	NC_000007.14:g.129210515C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Thr541Met	rs1162853719	missense variant	-	NC_000007.14:g.129210518C>T	TOPMed,gnomAD
SMO	Q99835	p.Leu543Phe	rs752557747	missense variant	-	NC_000007.14:g.129210523C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ile544Val	rs541067642	missense variant	-	NC_000007.14:g.129210526A>G	1000Genomes,ExAC,gnomAD
SMO	Q99835	p.Arg546Lys	rs778073136	missense variant	-	NC_000007.14:g.129210533G>A	ExAC,gnomAD
SMO	Q99835	p.Arg547His	rs771078092	missense variant	-	NC_000007.14:g.129210536G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg547Cys	rs747136892	missense variant	-	NC_000007.14:g.129210535C>T	ExAC,gnomAD
SMO	Q99835	p.Arg547Leu	COSM6108665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129210536G>T	NCI-TCGA Cosmic
SMO	Q99835	p.Thr548Ile	rs1226100694	missense variant	-	NC_000007.14:g.129210539C>T	gnomAD
SMO	Q99835	p.Arg551Lys	rs1274560943	missense variant	-	NC_000007.14:g.129210548G>A	gnomAD
SMO	Q99835	p.Gln555Lys	rs537683811	missense variant	-	NC_000007.14:g.129210975C>A	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser556Asn	rs780718707	missense variant	-	NC_000007.14:g.129210979G>A	ExAC,gnomAD
SMO	Q99835	p.Ser556Thr	rs780718707	missense variant	-	NC_000007.14:g.129210979G>C	ExAC,gnomAD
SMO	Q99835	p.Asp558Asn	rs774627960	missense variant	-	NC_000007.14:g.129210984G>A	ExAC,gnomAD
SMO	Q99835	p.Asp558Val	rs1409257755	missense variant	-	NC_000007.14:g.129210985A>T	TOPMed
SMO	Q99835	p.Pro560Gln	rs924484051	missense variant	-	NC_000007.14:g.129210991C>A	TOPMed
SMO	Q99835	p.Lys561Arg	rs1320135367	missense variant	-	NC_000007.14:g.129210994A>G	gnomAD
SMO	Q99835	p.Arg562Gln	rs121918348	missense variant	-	NC_000007.14:g.129210997G>A	UniProt,dbSNP
SMO	Q99835	p.Arg562Gln	VAR_007849	missense variant	-	NC_000007.14:g.129210997G>A	UniProt
SMO	Q99835	p.Arg562Gln	rs121918348	missense variant	-	NC_000007.14:g.129210997G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg562Trp	rs138072219	missense variant	-	NC_000007.14:g.129210996C>T	ESP,ExAC,gnomAD
SMO	Q99835	p.Arg562Gln	RCV000008587	missense variant	Basal cell carcinoma, somatic	NC_000007.14:g.129210997G>A	ClinVar
SMO	Q99835	p.Ile563Met	rs776255351	missense variant	-	NC_000007.14:g.129211001C>G	ExAC,gnomAD
SMO	Q99835	p.Ser566Asn	rs1223793743	missense variant	-	NC_000007.14:g.129211009G>A	gnomAD
SMO	Q99835	p.Lys567Arg	rs1180041451	missense variant	-	NC_000007.14:g.129211012A>G	TOPMed
SMO	Q99835	p.Met568Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129211014A>G	NCI-TCGA
SMO	Q99835	p.Ile569Thr	rs1344696852	missense variant	-	NC_000007.14:g.129211018T>C	gnomAD
SMO	Q99835	p.Ala570Ser	rs775441067	missense variant	-	NC_000007.14:g.129211020G>T	ExAC,gnomAD
SMO	Q99835	p.Lys571Arg	rs762755297	missense variant	-	NC_000007.14:g.129211024A>G	ExAC,gnomAD
SMO	Q99835	p.Ser574Ala	rs1208114158	missense variant	-	NC_000007.14:g.129211032T>G	TOPMed
SMO	Q99835	p.Ser574Cys	rs764065797	missense variant	-	NC_000007.14:g.129211033C>G	ExAC
SMO	Q99835	p.Lys575Met	rs56383695	missense variant	-	NC_000007.14:g.129211036A>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg576Trp	rs767688088	missense variant	-	NC_000007.14:g.129211038C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg576Gln	rs577512487	missense variant	-	NC_000007.14:g.129211039G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.His577Gln	rs146040859	missense variant	-	NC_000007.14:g.129211043C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.His577Arg	rs1199785269	missense variant	-	NC_000007.14:g.129211042A>G	gnomAD
SMO	Q99835	p.Glu578Lys	rs61740964	missense variant	-	NC_000007.14:g.129211044G>A	ESP,TOPMed,gnomAD
SMO	Q99835	p.Asn582Ser	rs1408612211	missense variant	-	NC_000007.14:g.129211057A>G	gnomAD
SMO	Q99835	p.Pro583Ala	rs756558145	missense variant	-	NC_000007.14:g.129211059C>G	ExAC,gnomAD
SMO	Q99835	p.Gly584Ser	rs1295781595	missense variant	-	NC_000007.14:g.129211062G>A	gnomAD
SMO	Q99835	p.Gln585Glu	rs1336850878	missense variant	-	NC_000007.14:g.129211065C>G	TOPMed
SMO	Q99835	p.Gln585His	rs1366851376	missense variant	-	NC_000007.14:g.129211067G>T	gnomAD
SMO	Q99835	p.Glu586Gln	rs1456202164	missense variant	-	NC_000007.14:g.129211068G>C	TOPMed
SMO	Q99835	p.Ser588Thr	rs779471371	missense variant	-	NC_000007.14:g.129211074T>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser588Tyr	rs748520705	missense variant	-	NC_000007.14:g.129211075C>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser590Thr	rs114406835	missense variant	-	NC_000007.14:g.129211081G>C	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser590Asn	rs114406835	missense variant	-	NC_000007.14:g.129211081G>A	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Met591Val	rs745484832	missense variant	-	NC_000007.14:g.129211083A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Met591Arg	rs749648986	missense variant	-	NC_000007.14:g.129211084T>G	TOPMed,gnomAD
SMO	Q99835	p.Ser595Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129211096C>T	NCI-TCGA
SMO	Q99835	p.His596Gln	rs371203309	missense variant	-	NC_000007.14:g.129211100C>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asp597His	rs989582182	missense variant	-	NC_000007.14:g.129211101G>C	gnomAD
SMO	Q99835	p.Asp597Asn	rs989582182	missense variant	-	NC_000007.14:g.129211101G>A	gnomAD
SMO	Q99835	p.Gly598Arg	rs762491039	missense variant	-	NC_000007.14:g.129211104G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly598Trp	COSM3878028	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211104G>T	NCI-TCGA Cosmic
SMO	Q99835	p.Pro599Leu	rs1156714683	missense variant	-	NC_000007.14:g.129211108C>T	gnomAD
SMO	Q99835	p.Pro599His	COSM421601	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211108C>A	NCI-TCGA Cosmic
SMO	Q99835	p.Val600Leu	rs767352128	missense variant	-	NC_000007.14:g.129211110G>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val600Met	rs767352128	missense variant	-	NC_000007.14:g.129211110G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala601Val	rs1216671158	missense variant	-	NC_000007.14:g.129211636C>T	gnomAD
SMO	Q99835	p.Gly602Ser	rs372338093	missense variant	-	NC_000007.14:g.129211638G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly602Ala	rs1201079205	missense variant	-	NC_000007.14:g.129211639G>C	gnomAD
SMO	Q99835	p.Ala604Ser	rs369778787	missense variant	-	NC_000007.14:g.129211644G>T	ESP,TOPMed,gnomAD
SMO	Q99835	p.Ala604Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129211645C>T	NCI-TCGA
SMO	Q99835	p.Ala604Thr	rs369778787	missense variant	-	NC_000007.14:g.129211644G>A	ESP,TOPMed,gnomAD
SMO	Q99835	p.Asn608Ser	rs755362549	missense variant	-	NC_000007.14:g.129211657A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asn608Ile	rs755362549	missense variant	-	NC_000007.14:g.129211657A>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro610Thr	rs1299372923	missense variant	-	NC_000007.14:g.129211662C>A	gnomAD
SMO	Q99835	p.Pro610His	rs779588453	missense variant	-	NC_000007.14:g.129211663C>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala612Gly	rs748905934	missense variant	-	NC_000007.14:g.129211669C>G	ExAC,gnomAD
SMO	Q99835	p.Ala612Thr	COSM3922682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211668G>A	NCI-TCGA Cosmic
SMO	Q99835	p.Ala617Gly	rs778438994	missense variant	-	NC_000007.14:g.129211684C>G	ExAC,gnomAD
SMO	Q99835	p.Trp618Ter	rs1385995572	stop gained	-	NC_000007.14:g.129211688G>A	gnomAD
SMO	Q99835	p.His621Tyr	rs1031386726	missense variant	-	NC_000007.14:g.129211695C>T	TOPMed
SMO	Q99835	p.Val622Ile	rs1186047164	missense variant	-	NC_000007.14:g.129211698G>A	TOPMed
SMO	Q99835	p.Arg628Gln	rs201898555	missense variant	-	NC_000007.14:g.129211717G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg628Leu	rs201898555	missense variant	-	NC_000007.14:g.129211717G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg628Pro	rs201898555	missense variant	-	NC_000007.14:g.129211717G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg628Trp	rs200477210	missense variant	-	NC_000007.14:g.129211716C>T	1000Genomes,ExAC,gnomAD
SMO	Q99835	p.Pro634Ser	rs765350977	missense variant	-	NC_000007.14:g.129211734C>T	ExAC,gnomAD
SMO	Q99835	p.Pro634Leu	COSM6176187	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211735C>T	NCI-TCGA Cosmic
SMO	Q99835	p.Gln635ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.129211734C>-	NCI-TCGA
SMO	Q99835	p.Gln635Ter	NCI-TCGA novel	stop gained	-	NC_000007.14:g.129211737C>T	NCI-TCGA
SMO	Q99835	p.Gln635His	COSM1085440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211739G>T	NCI-TCGA Cosmic
SMO	Q99835	p.Asp636Asn	COSM3633169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211740G>A	NCI-TCGA Cosmic
SMO	Q99835	p.Ile637Leu	rs1487988140	missense variant	-	NC_000007.14:g.129211743A>C	gnomAD
SMO	Q99835	p.Ser638Ala	rs1008714235	missense variant	-	NC_000007.14:g.129211746T>G	TOPMed
SMO	Q99835	p.Val639Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129211750T>C	NCI-TCGA
SMO	Q99835	p.Thr640Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129211752A>T	NCI-TCGA
SMO	Q99835	p.Pro641Ala	rs146200641	missense variant	-	NC_000007.14:g.129211755C>G	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro641Arg	COSM6176186	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211756C>G	NCI-TCGA Cosmic
SMO	Q99835	p.Pro641Ala	RCV000122436	missense variant	-	NC_000007.14:g.129211755C>G	ClinVar
SMO	Q99835	p.Val642Leu	COSM6108664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129211758G>T	NCI-TCGA Cosmic
SMO	Q99835	p.Ala643Thr	rs764646280	missense variant	-	NC_000007.14:g.129211761G>A	ExAC,gnomAD
SMO	Q99835	p.Pro645Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129211767C>A	NCI-TCGA
SMO	Q99835	p.Pro645Leu	rs752958692	missense variant	-	NC_000007.14:g.129211768C>T	gnomAD
SMO	Q99835	p.Val646Met	rs367857454	missense variant	-	NC_000007.14:g.129211770G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro647Leu	rs780158670	missense variant	-	NC_000007.14:g.129212027C>T	TOPMed
SMO	Q99835	p.Pro647Thr	rs34545616	missense variant	-	NC_000007.14:g.129212026C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro647Ser	rs34545616	missense variant	-	NC_000007.14:g.129212026C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro647Ser	RCV000514158	missense variant	-	NC_000007.14:g.129212026C>T	ClinVar
SMO	Q99835	p.Pro648Leu	rs1052801199	missense variant	-	NC_000007.14:g.129212030C>T	TOPMed,gnomAD
SMO	Q99835	p.Pro648Arg	rs1052801199	missense variant	-	NC_000007.14:g.129212030C>G	TOPMed,gnomAD
SMO	Q99835	p.Pro648Ser	rs1442264163	missense variant	-	NC_000007.14:g.129212029C>T	gnomAD
SMO	Q99835	p.Glu649Gly	rs1344888015	missense variant	-	NC_000007.14:g.129212033A>G	gnomAD
SMO	Q99835	p.Gln651Lys	rs1354414565	missense variant	-	NC_000007.14:g.129212038C>A	gnomAD
SMO	Q99835	p.Gln651Arg	rs751176869	missense variant	-	NC_000007.14:g.129212039A>G	ExAC,gnomAD
SMO	Q99835	p.Ala652Thr	rs756712814	missense variant	-	NC_000007.14:g.129212041G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asn653Ser	rs781206531	missense variant	-	NC_000007.14:g.129212045A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Trp655Ter	rs1199268301	stop gained	-	NC_000007.14:g.129212052G>A	gnomAD
SMO	Q99835	p.Trp655Cys	rs1199268301	missense variant	-	NC_000007.14:g.129212052G>C	gnomAD
SMO	Q99835	p.Glu660Gln	rs1452363813	missense variant	-	NC_000007.14:g.129212065G>C	gnomAD
SMO	Q99835	p.Glu660Gly	rs1454093487	missense variant	-	NC_000007.14:g.129212066A>G	TOPMed
SMO	Q99835	p.Ile661Met	rs1180366526	missense variant	-	NC_000007.14:g.129212070C>G	gnomAD
SMO	Q99835	p.Pro663Ser	rs1380849654	missense variant	-	NC_000007.14:g.129212074C>T	gnomAD
SMO	Q99835	p.Pro663Leu	rs1418557662	missense variant	-	NC_000007.14:g.129212075C>T	gnomAD
SMO	Q99835	p.Arg668Cys	rs779777438	missense variant	-	NC_000007.14:g.129212089C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg668Leu	rs749061719	missense variant	-	NC_000007.14:g.129212090G>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg668His	rs749061719	missense variant	-	NC_000007.14:g.129212090G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly670Arg	rs1187937880	missense variant	-	NC_000007.14:g.129212095G>C	TOPMed
SMO	Q99835	p.Arg671Trp	rs768907770	missense variant	-	NC_000007.14:g.129212098C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg671Gly	rs768907770	missense variant	-	NC_000007.14:g.129212098C>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg671Gln	rs573599556	missense variant	-	NC_000007.14:g.129212099G>A	1000Genomes,ExAC,TOPMed
SMO	Q99835	p.Lys672Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129212103G>T	NCI-TCGA
SMO	Q99835	p.Lys672Arg	rs1378364507	missense variant	-	NC_000007.14:g.129212102A>G	gnomAD
SMO	Q99835	p.Lys673Glu	rs1239483829	missense variant	-	NC_000007.14:g.129212104A>G	gnomAD
SMO	Q99835	p.Lys673Asn	rs749196262	missense variant	-	NC_000007.14:g.129212106G>T	ExAC,gnomAD
SMO	Q99835	p.Lys674Asn	rs1289445585	missense variant	-	NC_000007.14:g.129212109G>C	gnomAD
SMO	Q99835	p.Lys674Glu	rs1358600043	missense variant	-	NC_000007.14:g.129212107A>G	gnomAD
SMO	Q99835	p.Arg675Lys	rs1466921386	missense variant	-	NC_000007.14:g.129212111G>A	TOPMed,gnomAD
SMO	Q99835	p.Arg676Ser	rs1238699461	missense variant	-	NC_000007.14:g.129212115G>T	gnomAD
SMO	Q99835	p.Lys677Glu	rs761036817	missense variant	-	NC_000007.14:g.129212116A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Lys679Glu	rs1369656559	missense variant	-	NC_000007.14:g.129212122A>G	gnomAD
SMO	Q99835	p.Glu681Ala	rs375368180	missense variant	-	NC_000007.14:g.129212129A>C	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro684Leu	rs777173215	missense variant	-	NC_000007.14:g.129212138C>T	ExAC,gnomAD
SMO	Q99835	p.Ala686Ser	rs1446646756	missense variant	-	NC_000007.14:g.129212143G>T	TOPMed,gnomAD
SMO	Q99835	p.Ala686Val	rs587778688	missense variant	-	NC_000007.14:g.129212144C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala686Val	RCV000122438	missense variant	-	NC_000007.14:g.129212144C>T	ClinVar
SMO	Q99835	p.Pro687Leu	rs55722779	missense variant	-	NC_000007.14:g.129212147C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro687Ser	rs1245615022	missense variant	-	NC_000007.14:g.129212146C>T	gnomAD
SMO	Q99835	p.Pro687Leu	RCV000122073	missense variant	-	NC_000007.14:g.129212147C>T	ClinVar
SMO	Q99835	p.Pro688Ser	rs1333040161	missense variant	-	NC_000007.14:g.129212149C>T	gnomAD
SMO	Q99835	p.Pro689Thr	rs1200280970	missense variant	-	NC_000007.14:g.129212152C>A	gnomAD
SMO	Q99835	p.Pro689His	rs750399871	missense variant	-	NC_000007.14:g.129212153C>A	ExAC,gnomAD
SMO	Q99835	p.Pro689Ser	rs1200280970	missense variant	-	NC_000007.14:g.129212152C>T	gnomAD
SMO	Q99835	p.Leu691Pro	rs202060649	missense variant	-	NC_000007.14:g.129212159T>C	1000Genomes,gnomAD
SMO	Q99835	p.His692Arg	rs970650050	missense variant	-	NC_000007.14:g.129212162A>G	TOPMed
SMO	Q99835	p.Pro693Ser	rs56346729	missense variant	-	NC_000007.14:g.129212164C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro694Arg	rs753700381	missense variant	-	NC_000007.14:g.129212168C>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro694LeuPheSerTerUnkUnk	COSM172128	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.129212163C>-	NCI-TCGA Cosmic
SMO	Q99835	p.Ala695Thr	rs1478619026	missense variant	-	NC_000007.14:g.129212170G>A	gnomAD
SMO	Q99835	p.Pro696Ser	rs1170987549	missense variant	-	NC_000007.14:g.129212173C>T	gnomAD
SMO	Q99835	p.Pro696Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129212173C>A	NCI-TCGA
SMO	Q99835	p.Ala697Gly	rs779110649	missense variant	-	NC_000007.14:g.129212177C>G	ExAC,gnomAD
SMO	Q99835	p.Pro698Arg	RCV000122074	missense variant	-	NC_000007.14:g.129212180C>G	ClinVar
SMO	Q99835	p.Pro698Arg	rs116640950	missense variant	-	NC_000007.14:g.129212180C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro698Leu	rs116640950	missense variant	-	NC_000007.14:g.129212180C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser699Arg	rs1296884561	missense variant	-	NC_000007.14:g.129212182A>C	gnomAD
SMO	Q99835	p.Ser699Arg	COSM484811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129212184T>G	NCI-TCGA Cosmic
SMO	Q99835	p.Thr700Ala	rs1405069150	missense variant	-	NC_000007.14:g.129212185A>G	gnomAD
SMO	Q99835	p.Arg703Pro	rs761586263	missense variant	-	NC_000007.14:g.129212195G>C	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg703Gly	rs777762925	missense variant	-	NC_000007.14:g.129212194C>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg703Ter	rs777762925	stop gained	-	NC_000007.14:g.129212194C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg703Gln	rs761586263	missense variant	-	NC_000007.14:g.129212195G>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Leu707Met	rs957669971	missense variant	-	NC_000007.14:g.129212206C>A	TOPMed,gnomAD
SMO	Q99835	p.Pro708Leu	rs777261235	missense variant	-	NC_000007.14:g.129212210C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro708His	rs777261235	missense variant	-	NC_000007.14:g.129212210C>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg709Gln	rs369342481	missense variant	-	NC_000007.14:g.129212213G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg709Trp	rs759996530	missense variant	-	NC_000007.14:g.129212212C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gln710His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129212217G>T	NCI-TCGA
SMO	Q99835	p.Cys712Arg	rs774086868	missense variant	-	NC_000007.14:g.129212221T>C	ExAC,gnomAD
SMO	Q99835	p.Ala716Glu	rs767178507	missense variant	-	NC_000007.14:g.129212234C>A	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly717Asp	rs1193857587	missense variant	-	NC_000007.14:g.129212237G>A	gnomAD
SMO	Q99835	p.Gly717Cys	rs772640174	missense variant	-	NC_000007.14:g.129212236G>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Trp719Ter	rs1327533871	stop gained	-	NC_000007.14:g.129212243G>A	gnomAD
SMO	Q99835	p.Gly720Glu	rs1262023810	missense variant	-	NC_000007.14:g.129212246G>A	TOPMed,gnomAD
SMO	Q99835	p.Gly722Glu	rs760228898	missense variant	-	NC_000007.14:g.129212252G>A	ExAC,gnomAD
SMO	Q99835	p.Asp723Tyr	rs1168853400	missense variant	-	NC_000007.14:g.129212254G>T	gnomAD
SMO	Q99835	p.Asp723Val	rs766361793	missense variant	-	NC_000007.14:g.129212255A>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser724Pro	rs1467038854	missense variant	-	NC_000007.14:g.129212257T>C	gnomAD
SMO	Q99835	p.Cys725Trp	rs1373663022	missense variant	-	NC_000007.14:g.129212262C>G	TOPMed,gnomAD
SMO	Q99835	p.Arg726Gln	rs142495470	missense variant	-	NC_000007.14:g.129212264G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg726Ter	rs372847405	stop gained	-	NC_000007.14:g.129212263C>T	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg726Gly	rs372847405	missense variant	-	NC_000007.14:g.129212263C>G	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg726Gln	RCV000122077	missense variant	-	NC_000007.14:g.129212264G>A	ClinVar
SMO	Q99835	p.Gln727Ter	rs1361595595	stop gained	-	NC_000007.14:g.129212266C>T	gnomAD
SMO	Q99835	p.Gly728Ala	rs758584897	missense variant	-	NC_000007.14:g.129212270G>C	ExAC,gnomAD
SMO	Q99835	p.Gly728Glu	rs758584897	missense variant	-	NC_000007.14:g.129212270G>A	ExAC,gnomAD
SMO	Q99835	p.Ala729Ser	rs150924833	missense variant	-	NC_000007.14:g.129212272G>T	ESP,ExAC,gnomAD
SMO	Q99835	p.Ala729Val	rs200751953	missense variant	-	NC_000007.14:g.129212273C>T	1000Genomes,ExAC
SMO	Q99835	p.Ala729Thr	rs150924833	missense variant	-	NC_000007.14:g.129212272G>A	ESP,ExAC,gnomAD
SMO	Q99835	p.Thr731Ile	rs1168512964	missense variant	-	NC_000007.14:g.129212279C>T	TOPMed
SMO	Q99835	p.Val733Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129212284G>T	NCI-TCGA
SMO	Q99835	p.Ser734Phe	rs1179087143	missense variant	-	NC_000007.14:g.129212288C>T	TOPMed
SMO	Q99835	p.Asn735Ser	rs372475450	missense variant	-	NC_000007.14:g.129212291A>G	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asn735Thr	rs372475450	missense variant	-	NC_000007.14:g.129212291A>C	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro736Thr	rs771690738	missense variant	-	NC_000007.14:g.129212293C>A	ExAC,gnomAD
SMO	Q99835	p.Pro736Leu	rs772906733	missense variant	-	NC_000007.14:g.129212294C>T	ExAC,gnomAD
SMO	Q99835	p.Cys738Phe	rs1269862863	missense variant	-	NC_000007.14:g.129212300G>T	gnomAD
SMO	Q99835	p.Pro739Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129212302C>T	NCI-TCGA
SMO	Q99835	p.Pro741Leu	rs1193502171	missense variant	-	NC_000007.14:g.129212309C>T	gnomAD
SMO	Q99835	p.Pro743Ser	rs112783338	missense variant	-	NC_000007.14:g.129212314C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro743Thr	rs112783338	missense variant	-	NC_000007.14:g.129212314C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro743Thr	RCV000122075	missense variant	-	NC_000007.14:g.129212314C>A	ClinVar
SMO	Q99835	p.Pro744His	rs752497829	missense variant	-	NC_000007.14:g.129212318C>A	ExAC,gnomAD
SMO	Q99835	p.Pro744Ser	rs141955434	missense variant	-	NC_000007.14:g.129212317C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Pro744Thr	rs141955434	missense variant	-	NC_000007.14:g.129212317C>A	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gln745Arg	rs377501107	missense variant	-	NC_000007.14:g.129212321A>G	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ser751Asn	rs377092430	missense variant	-	NC_000007.14:g.129212339G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala752Thr	rs1439900357	missense variant	-	NC_000007.14:g.129212341G>A	TOPMed,gnomAD
SMO	Q99835	p.Pro753Leu	rs202241524	missense variant	-	NC_000007.14:g.129212345C>T	1000Genomes,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala754Thr	COSM1085448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129212347G>A	NCI-TCGA Cosmic
SMO	Q99835	p.Pro755Thr	rs745924040	missense variant	-	NC_000007.14:g.129212350C>A	ExAC,gnomAD
SMO	Q99835	p.Val756Leu	rs147090883	missense variant	-	NC_000007.14:g.129212353G>T	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Val756Met	rs147090883	missense variant	-	NC_000007.14:g.129212353G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Ala757Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129212357C>T	NCI-TCGA
SMO	Q99835	p.Trp758Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129212359T>A	NCI-TCGA
SMO	Q99835	p.Trp758Arg	rs1024824800	missense variant	-	NC_000007.14:g.129212359T>C	TOPMed
SMO	Q99835	p.Ala759Ser	rs1488974485	missense variant	-	NC_000007.14:g.129212362G>T	gnomAD
SMO	Q99835	p.Ala759Val	rs769008401	missense variant	-	NC_000007.14:g.129212363C>T	ExAC,gnomAD
SMO	Q99835	p.His760Tyr	rs1251652684	missense variant	-	NC_000007.14:g.129212365C>T	TOPMed,gnomAD
SMO	Q99835	p.His760Pro	rs772769239	missense variant	-	NC_000007.14:g.129212366A>C	ExAC,gnomAD
SMO	Q99835	p.His760Arg	rs772769239	missense variant	-	NC_000007.14:g.129212366A>G	ExAC,gnomAD
SMO	Q99835	p.Arg762His	rs376280244	missense variant	-	NC_000007.14:g.129212372G>A	ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg762Cys	rs905977339	missense variant	-	NC_000007.14:g.129212371C>T	TOPMed,gnomAD
SMO	Q99835	p.Arg763Gln	rs1167098287	missense variant	-	NC_000007.14:g.129212375G>A	gnomAD
SMO	Q99835	p.Arg763Ter	rs765830913	stop gained	-	NC_000007.14:g.129212374C>T	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Gly765Ser	rs1350752913	missense variant	-	NC_000007.14:g.129212380G>A	gnomAD
SMO	Q99835	p.Gly765Val	rs776156624	missense variant	-	NC_000007.14:g.129212381G>T	ExAC,gnomAD
SMO	Q99835	p.Pro768Ser	COSM452323	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.129212389C>T	NCI-TCGA Cosmic
SMO	Q99835	p.Ile769Leu	rs769675703	missense variant	-	NC_000007.14:g.129212392A>C	ExAC,gnomAD
SMO	Q99835	p.Ser771Phe	rs1471453753	missense variant	-	NC_000007.14:g.129212399C>T	TOPMed
SMO	Q99835	p.Arg772Leu	rs149170801	missense variant	-	NC_000007.14:g.129212402G>T	ESP,ExAC,gnomAD
SMO	Q99835	p.Arg772Cys	RCV000122076	missense variant	-	NC_000007.14:g.129212401C>T	ClinVar
SMO	Q99835	p.Arg772His	rs149170801	missense variant	-	NC_000007.14:g.129212402G>A	ESP,ExAC,gnomAD
SMO	Q99835	p.Arg772Gly	rs140172891	missense variant	-	NC_000007.14:g.129212401C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Arg772Cys	rs140172891	missense variant	-	NC_000007.14:g.129212401C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asn774Ser	rs762178062	missense variant	-	NC_000007.14:g.129212408A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Met776Val	rs767820047	missense variant	-	NC_000007.14:g.129212413A>G	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Asp777Asn	rs750599703	missense variant	-	NC_000007.14:g.129212416G>A	ExAC,gnomAD
SMO	Q99835	p.Thr778Ile	rs756252266	missense variant	-	NC_000007.14:g.129212420C>T	ExAC,gnomAD
SMO	Q99835	p.Thr778Ala	rs989068282	missense variant	-	NC_000007.14:g.129212419A>G	TOPMed,gnomAD
SMO	Q99835	p.Glu779Ala	rs780439187	missense variant	-	NC_000007.14:g.129212423A>C	ExAC,gnomAD
SMO	Q99835	p.Leu780Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129212426T>G	NCI-TCGA
SMO	Q99835	p.Leu780Phe	rs1183728706	missense variant	-	NC_000007.14:g.129212425C>T	gnomAD
SMO	Q99835	p.Met781Thr	rs755320310	missense variant	-	NC_000007.14:g.129212429T>C	ExAC,TOPMed,gnomAD
SMO	Q99835	p.Met781Val	rs1461447618	missense variant	-	NC_000007.14:g.129212428A>G	TOPMed
SMO	Q99835	p.Asp782Asn	rs587778689	missense variant	-	NC_000007.14:g.129212431G>A	-
SMO	Q99835	p.Asp782Asn	RCV000122078	missense variant	-	NC_000007.14:g.129212431G>A	ClinVar
SMO	Q99835	p.Ala783Val	rs1475027326	missense variant	-	NC_000007.14:g.129212435C>T	gnomAD
SMO	Q99835	p.Ser785Leu	rs1425442829	missense variant	-	NC_000007.14:g.129212441C>T	TOPMed,gnomAD
SMO	Q99835	p.Phe787Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.129212448C>G	NCI-TCGA
SMO	Q99835	p.Phe787Leu	rs748479148	missense variant	-	NC_000007.14:g.129212448C>A	ExAC,gnomAD
SMO	Q99835	p.Ter788Arg	rs1352762329	stop lost	-	NC_000007.14:g.129212449T>C	TOPMed,gnomAD
FOXC2	Q99958	p.Ala3Thr	rs1350455499	missense variant	-	NC_000016.10:g.86567342G>A	TOPMed
FOXC2	Q99958	p.Arg4Gly	rs777692974	missense variant	-	NC_000016.10:g.86567345C>G	ExAC,gnomAD
FOXC2	Q99958	p.Tyr5His	rs751297772	missense variant	-	NC_000016.10:g.86567348T>C	ExAC,gnomAD
FOXC2	Q99958	p.Ser6Cys	rs757068832	missense variant	-	NC_000016.10:g.86567352C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser6Phe	rs757068832	missense variant	-	NC_000016.10:g.86567352C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Val7Ala	rs745506389	missense variant	-	NC_000016.10:g.86567355T>C	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Val7Met	rs1378523304	missense variant	-	NC_000016.10:g.86567354G>A	TOPMed
FOXC2	Q99958	p.Val7Glu	rs745506389	missense variant	-	NC_000016.10:g.86567355T>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser8Pro	rs368190981	missense variant	-	NC_000016.10:g.86567357T>C	ESP,TOPMed,gnomAD
FOXC2	Q99958	p.Asp9Asn	rs1489670636	missense variant	-	NC_000016.10:g.86567360G>A	TOPMed
FOXC2	Q99958	p.Pro10Thr	rs1347856337	missense variant	-	NC_000016.10:g.86567363C>A	gnomAD
FOXC2	Q99958	p.Asn11Ser	rs748819139	missense variant	-	NC_000016.10:g.86567367A>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Asn11Lys	rs772645050	missense variant	-	NC_000016.10:g.86567368C>A	ExAC,gnomAD
FOXC2	Q99958	p.Ala12Val	rs773874147	missense variant	-	NC_000016.10:g.86567370C>T	ExAC,gnomAD
FOXC2	Q99958	p.Gly14Glu	rs771389064	missense variant	-	NC_000016.10:g.86567376G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gly14Arg	rs761078483	missense variant	-	NC_000016.10:g.86567375G>A	ExAC,gnomAD
FOXC2	Q99958	p.Val16Ala	rs759789509	missense variant	-	NC_000016.10:g.86567382T>C	ExAC,gnomAD
FOXC2	Q99958	p.Ser20Arg	rs868242023	missense variant	-	NC_000016.10:g.86567395C>G	gnomAD
FOXC2	Q99958	p.Ser20Arg	rs868242023	missense variant	-	NC_000016.10:g.86567395C>A	gnomAD
FOXC2	Q99958	p.Ser20Arg	rs1471061675	missense variant	-	NC_000016.10:g.86567393A>C	gnomAD
FOXC2	Q99958	p.Glu21Lys	rs762956420	missense variant	-	NC_000016.10:g.86567396G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Glu21Asp	rs1391912153	missense variant	-	NC_000016.10:g.86567398G>C	TOPMed,gnomAD
FOXC2	Q99958	p.Tyr24Phe	rs763971152	missense variant	-	NC_000016.10:g.86567406A>T	ExAC,gnomAD
FOXC2	Q99958	p.Tyr25Cys	rs1283340618	missense variant	-	NC_000016.10:g.86567409A>G	gnomAD
FOXC2	Q99958	p.Tyr25His	rs757226662	missense variant	-	NC_000016.10:g.86567408T>C	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Arg26Pro	rs780946825	missense variant	-	NC_000016.10:g.86567412G>C	ExAC
FOXC2	Q99958	p.Ala27Pro	rs906672065	missense variant	-	NC_000016.10:g.86567414G>C	TOPMed
FOXC2	Q99958	p.Ala28Pro	rs750245338	missense variant	-	NC_000016.10:g.86567417G>C	ExAC,gnomAD
FOXC2	Q99958	p.Ala28Gly	rs755791847	missense variant	-	NC_000016.10:g.86567418C>G	ExAC,gnomAD
FOXC2	Q99958	p.Ala28Val	rs755791847	missense variant	-	NC_000016.10:g.86567418C>T	ExAC,gnomAD
FOXC2	Q99958	p.Gly29Cys	rs1253235893	missense variant	-	NC_000016.10:g.86567420G>T	gnomAD
FOXC2	Q99958	p.Gly29Ser	rs1253235893	missense variant	-	NC_000016.10:g.86567420G>A	gnomAD
FOXC2	Q99958	p.Gly29Asp	rs754563345	missense variant	-	NC_000016.10:g.86567421G>A	ExAC,gnomAD
FOXC2	Q99958	p.Tyr31Cys	rs778603144	missense variant	-	NC_000016.10:g.86567427A>G	ExAC,gnomAD
FOXC2	Q99958	p.Gly32Ser	rs747494903	missense variant	-	NC_000016.10:g.86567429G>A	ExAC,gnomAD
FOXC2	Q99958	p.Gly32Cys	rs747494903	missense variant	-	NC_000016.10:g.86567429G>T	ExAC,gnomAD
FOXC2	Q99958	p.Gly33Val	rs1196954403	missense variant	-	NC_000016.10:g.86567433G>T	gnomAD
FOXC2	Q99958	p.Met34Val	rs1451472233	missense variant	-	NC_000016.10:g.86567435A>G	TOPMed
FOXC2	Q99958	p.Met34Ile	rs770000954	missense variant	-	NC_000016.10:g.86567437G>A	ExAC,gnomAD
FOXC2	Q99958	p.Ser36Asn	rs375555433	missense variant	-	NC_000016.10:g.86567442G>A	ESP,TOPMed,gnomAD
FOXC2	Q99958	p.Pro37His	rs763049971	missense variant	-	NC_000016.10:g.86567445C>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro37Ser	rs1428990599	missense variant	-	NC_000016.10:g.86567444C>T	gnomAD
FOXC2	Q99958	p.Met38Val	rs1346828342	missense variant	-	NC_000016.10:g.86567447A>G	gnomAD
FOXC2	Q99958	p.Met38Thr	rs1047951203	missense variant	-	NC_000016.10:g.86567448T>C	TOPMed,gnomAD
FOXC2	Q99958	p.Tyr41Phe	RCV000735836	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567457A>T	ClinVar
FOXC2	Q99958	p.Tyr41Ser	rs1043354227	missense variant	-	NC_000016.10:g.86567457A>C	TOPMed,gnomAD
FOXC2	Q99958	p.Tyr41His	rs764129123	missense variant	-	NC_000016.10:g.86567456T>C	ExAC,gnomAD
FOXC2	Q99958	p.Tyr41Cys	rs1043354227	missense variant	-	NC_000016.10:g.86567457A>G	TOPMed,gnomAD
FOXC2	Q99958	p.Ser42Ala	rs886775310	missense variant	-	NC_000016.10:g.86567459T>G	TOPMed
FOXC2	Q99958	p.Ser42Cys	rs1007233011	missense variant	-	NC_000016.10:g.86567460C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Ser42Phe	rs1007233011	missense variant	-	NC_000016.10:g.86567460C>T	TOPMed,gnomAD
FOXC2	Q99958	p.His44Ter	RCV000519605	frameshift	-	NC_000016.10:g.86567465del	ClinVar
FOXC2	Q99958	p.Pro45Ser	rs199862001	missense variant	-	NC_000016.10:g.86567468C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro45Gln	rs201393006	missense variant	-	NC_000016.10:g.86567469C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro45Thr	rs199862001	missense variant	-	NC_000016.10:g.86567468C>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro45Arg	rs201393006	missense variant	-	NC_000016.10:g.86567469C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro45Leu	rs201393006	missense variant	-	NC_000016.10:g.86567469C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gln47Pro	rs1253918042	missense variant	-	NC_000016.10:g.86567475A>C	TOPMed
FOXC2	Q99958	p.Tyr48Cys	rs1332856745	missense variant	-	NC_000016.10:g.86567478A>G	gnomAD
FOXC2	Q99958	p.Ser49Arg	rs1490842923	missense variant	-	NC_000016.10:g.86567482C>A	gnomAD
FOXC2	Q99958	p.Ala50Gly	rs1266887167	missense variant	-	NC_000016.10:g.86567484C>G	gnomAD
FOXC2	Q99958	p.Ala50Thr	rs754723219	missense variant	-	NC_000016.10:g.86567483G>A	ExAC,gnomAD
FOXC2	Q99958	p.Gly51Glu	rs778551960	missense variant	-	NC_000016.10:g.86567487G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gly51Arg	rs1195108332	missense variant	-	NC_000016.10:g.86567486G>A	gnomAD
FOXC2	Q99958	p.Met52Val	rs747725530	missense variant	-	NC_000016.10:g.86567489A>G	ExAC,gnomAD
FOXC2	Q99958	p.Arg54Gly	rs369098719	missense variant	-	NC_000016.10:g.86567495C>G	ESP,ExAC,gnomAD
FOXC2	Q99958	p.Arg54Leu	rs746195395	missense variant	-	NC_000016.10:g.86567496G>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser55Phe	rs1292603160	missense variant	-	NC_000016.10:g.86567499C>T	gnomAD
FOXC2	Q99958	p.Pro58Ser	rs140209790	missense variant	-	NC_000016.10:g.86567507C>T	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro58His	rs1026183412	missense variant	-	NC_000016.10:g.86567508C>A	TOPMed
FOXC2	Q99958	p.His60Asp	rs1374904425	missense variant	-	NC_000016.10:g.86567513C>G	TOPMed
FOXC2	Q99958	p.His60Gln	rs1316302915	missense variant	-	NC_000016.10:g.86567515C>A	gnomAD
FOXC2	Q99958	p.His61Pro	rs1305839778	missense variant	-	NC_000016.10:g.86567517A>C	TOPMed,gnomAD
FOXC2	Q99958	p.His62Gln	rs761890099	missense variant	-	NC_000016.10:g.86567521C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro64Leu	rs369622966	missense variant	-	NC_000016.10:g.86567526C>T	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro64His	rs369622966	missense variant	-	NC_000016.10:g.86567526C>A	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro64Arg	rs369622966	missense variant	-	NC_000016.10:g.86567526C>G	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala65Thr	rs760703639	missense variant	-	NC_000016.10:g.86567528G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala66Val	rs1184166552	missense variant	-	NC_000016.10:g.86567532C>T	gnomAD
FOXC2	Q99958	p.Pro67Leu	rs1343401603	missense variant	-	NC_000016.10:g.86567535C>T	gnomAD
FOXC2	Q99958	p.Lys68Ter	RCV000007676	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567535_86567536dup	ClinVar
FOXC2	Q99958	p.Lys68Asn	rs778453612	missense variant	-	NC_000016.10:g.86567539G>T	gnomAD
FOXC2	Q99958	p.Asp69Glu	rs1444609081	missense variant	-	NC_000016.10:g.86567542C>G	TOPMed
FOXC2	Q99958	p.Leu70Val	rs1163542176	missense variant	-	NC_000016.10:g.86567543C>G	gnomAD
FOXC2	Q99958	p.Val71Ter	RCV000007675	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567544dup	ClinVar
FOXC2	Q99958	p.Tyr75Cys	rs957867993	missense variant	-	NC_000016.10:g.86567559A>G	gnomAD
FOXC2	Q99958	p.Ala84Gly	rs750865152	missense variant	-	NC_000016.10:g.86567586C>G	ExAC,gnomAD
FOXC2	Q99958	p.Gln86His	rs756695162	missense variant	-	NC_000016.10:g.86567593G>C	ExAC,gnomAD
FOXC2	Q99958	p.Asn87Tyr	rs374000899	missense variant	-	NC_000016.10:g.86567594A>T	ESP,ExAC,gnomAD
FOXC2	Q99958	p.Ala88Ser	rs1319701826	missense variant	-	NC_000016.10:g.86567597G>T	TOPMed
FOXC2	Q99958	p.Ala88Val	rs749722544	missense variant	-	NC_000016.10:g.86567598C>T	ExAC,gnomAD
FOXC2	Q99958	p.Pro89Ser	rs1482270020	missense variant	-	NC_000016.10:g.86567600C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Glu90Gln	rs779124969	missense variant	-	NC_000016.10:g.86567603G>C	ExAC
FOXC2	Q99958	p.Lys92Thr	rs144326380	missense variant	-	NC_000016.10:g.86567610A>C	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Lys92Met	rs144326380	missense variant	-	NC_000016.10:g.86567610A>T	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Lys92Gln	rs1398022944	missense variant	-	NC_000016.10:g.86567609A>C	TOPMed
FOXC2	Q99958	p.Ile93Phe	rs1469969788	missense variant	-	NC_000016.10:g.86567612A>T	gnomAD
FOXC2	Q99958	p.Ile93Met	rs926624500	missense variant	-	NC_000016.10:g.86567614C>G	TOPMed
FOXC2	Q99958	p.Ile93Asn	rs776500374	missense variant	-	NC_000016.10:g.86567613T>A	ExAC,gnomAD
FOXC2	Q99958	p.Gly97Ter	RCV000007673	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567625_86567635del	ClinVar
FOXC2	Q99958	p.Ile98Met	rs371246110	missense variant	-	NC_000016.10:g.86567629C>G	ESP,gnomAD
FOXC2	Q99958	p.Ile98Val	rs377509198	missense variant	-	NC_000016.10:g.86567627A>G	ESP
FOXC2	Q99958	p.Tyr99Ter	RCV000007671	nonsense	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567632C>G	ClinVar
FOXC2	Q99958	p.Tyr99Ter	rs104894516	stop gained	-	NC_000016.10:g.86567632C>G	-
FOXC2	Q99958	p.Gln100His	rs764933050	missense variant	-	NC_000016.10:g.86567635G>T	ExAC,gnomAD
FOXC2	Q99958	p.Met103Ile	rs1286507953	missense variant	-	NC_000016.10:g.86567644G>A	gnomAD
FOXC2	Q99958	p.Met103Val	rs752429537	missense variant	-	NC_000016.10:g.86567642A>G	ExAC,gnomAD
FOXC2	Q99958	p.Met103Thr	rs1411683549	missense variant	-	NC_000016.10:g.86567643T>C	gnomAD
FOXC2	Q99958	p.Pro107Ala	rs1171987648	missense variant	-	NC_000016.10:g.86567654C>G	gnomAD
FOXC2	Q99958	p.Arg110Trp	rs763490810	missense variant	-	NC_000016.10:g.86567663C>T	ExAC,gnomAD
FOXC2	Q99958	p.Glu111Asp	rs751140878	missense variant	-	NC_000016.10:g.86567668G>C	ExAC
FOXC2	Q99958	p.Gly115Asp	rs1209374222	missense variant	-	NC_000016.10:g.86567679G>A	gnomAD
FOXC2	Q99958	p.Ile120Val	rs375500879	missense variant	-	NC_000016.10:g.86567693A>G	ESP,ExAC,TOPMed
FOXC2	Q99958	p.Ile120Thr	rs754147232	missense variant	-	NC_000016.10:g.86567694T>C	ExAC,gnomAD
FOXC2	Q99958	p.Arg121Cys	RCV000735835	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567696C>T	ClinVar
FOXC2	Q99958	p.Arg121His	RCV000007683	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567697G>A	ClinVar
FOXC2	Q99958	p.Arg121His	rs121909107	missense variant	-	NC_000016.10:g.86567697G>A	-
FOXC2	Q99958	p.Leu124Phe	rs779286561	missense variant	-	NC_000016.10:g.86567705C>T	ExAC,gnomAD
FOXC2	Q99958	p.Ser125Leu	RCV000007682	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567709C>T	ClinVar
FOXC2	Q99958	p.Ser125Leu	rs121909106	missense variant	-	NC_000016.10:g.86567709C>T	-
FOXC2	Q99958	p.Ser125Leu	rs121909106	missense variant	Lymphedema-distichiasis syndrome (LPHDST)	NC_000016.10:g.86567709C>T	UniProt,dbSNP
FOXC2	Q99958	p.Ser125Leu	VAR_018418	missense variant	Lymphedema-distichiasis syndrome (LPHDST)	NC_000016.10:g.86567709C>T	UniProt
FOXC2	Q99958	p.Val131Ile	rs1196341693	missense variant	-	NC_000016.10:g.86567726G>A	TOPMed
FOXC2	Q99958	p.Val133Met	rs777707890	missense variant	-	NC_000016.10:g.86567732G>A	ExAC,gnomAD
FOXC2	Q99958	p.Arg135Cys	rs1432134486	missense variant	-	NC_000016.10:g.86567738C>T	gnomAD
FOXC2	Q99958	p.Asp136Glu	rs1405787618	missense variant	-	NC_000016.10:g.86567743C>G	gnomAD
FOXC2	Q99958	p.Asp137Tyr	rs890746998	missense variant	-	NC_000016.10:g.86567744G>T	gnomAD
FOXC2	Q99958	p.Lys139Arg	rs759364638	missense variant	-	NC_000016.10:g.86567751A>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro140Leu	rs201833900	missense variant	-	NC_000016.10:g.86567754C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro140His	rs201833900	missense variant	-	NC_000016.10:g.86567754C>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gly141Ser	rs1202926077	missense variant	-	NC_000016.10:g.86567756G>A	gnomAD
FOXC2	Q99958	p.Gly141Cys	rs1202926077	missense variant	-	NC_000016.10:g.86567756G>T	gnomAD
FOXC2	Q99958	p.Tyr145Ser	rs1490350851	missense variant	-	NC_000016.10:g.86567769A>C	gnomAD
FOXC2	Q99958	p.Thr147Ile	rs201189554	missense variant	-	NC_000016.10:g.86567775C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Asp149Glu	rs1271328094	missense variant	-	NC_000016.10:g.86567782C>A	gnomAD
FOXC2	Q99958	p.Asp149His	rs766826259	missense variant	-	NC_000016.10:g.86567780G>C	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Asn154Ser	rs543303165	missense variant	-	NC_000016.10:g.86567796A>G	ExAC,gnomAD
FOXC2	Q99958	p.Glu157Asp	rs563038940	missense variant	-	NC_000016.10:g.86567806G>C	1000Genomes,ExAC,gnomAD
FOXC2	Q99958	p.Arg163Gln	rs758480988	missense variant	-	NC_000016.10:g.86567823G>A	ExAC,gnomAD
FOXC2	Q99958	p.Arg165Gln	rs1362663306	missense variant	-	NC_000016.10:g.86567829G>A	TOPMed
FOXC2	Q99958	p.Lys170Arg	rs747011789	missense variant	-	NC_000016.10:g.86567844A>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Lys170Ter	RCV000007678	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567844del	ClinVar
FOXC2	Q99958	p.Asp172Asn	rs1009368067	missense variant	-	NC_000016.10:g.86567849G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Val173Met	rs868831268	missense variant	-	NC_000016.10:g.86567852G>A	gnomAD
FOXC2	Q99958	p.Val173Leu	rs868831268	missense variant	-	NC_000016.10:g.86567852G>T	gnomAD
FOXC2	Q99958	p.Ser174Phe	rs781462601	missense variant	-	NC_000016.10:g.86567856C>T	ExAC,gnomAD
FOXC2	Q99958	p.Lys175Arg	rs970711015	missense variant	-	NC_000016.10:g.86567859A>G	TOPMed,gnomAD
FOXC2	Q99958	p.Lys175Met	rs970711015	missense variant	-	NC_000016.10:g.86567859A>T	TOPMed,gnomAD
FOXC2	Q99958	p.Glu176Lys	rs745779118	missense variant	-	NC_000016.10:g.86567861G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Lys177Glu	rs1216049569	missense variant	-	NC_000016.10:g.86567864A>G	gnomAD
FOXC2	Q99958	p.Lys177Arg	rs199924880	missense variant	-	NC_000016.10:g.86567865A>G	1000Genomes,ExAC,gnomAD
FOXC2	Q99958	p.Lys177Asn	rs1466498639	missense variant	-	NC_000016.10:g.86567866G>C	TOPMed,gnomAD
FOXC2	Q99958	p.Glu178Lys	rs1187254177	missense variant	-	NC_000016.10:g.86567867G>A	gnomAD
FOXC2	Q99958	p.Glu179Lys	rs370541542	missense variant	-	NC_000016.10:g.86567870G>A	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Glu179Gln	rs370541542	missense variant	-	NC_000016.10:g.86567870G>C	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Glu179Gly	rs1473396239	missense variant	-	NC_000016.10:g.86567871A>G	TOPMed,gnomAD
FOXC2	Q99958	p.Arg180Gln	rs774078804	missense variant	-	NC_000016.10:g.86567874G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Arg180Trp	rs545598387	missense variant	-	NC_000016.10:g.86567873C>T	1000Genomes,ExAC,gnomAD
FOXC2	Q99958	p.Arg180Pro	rs774078804	missense variant	-	NC_000016.10:g.86567874G>C	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.His182Asp	rs201924901	missense variant	-	NC_000016.10:g.86567879C>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Leu183Arg	rs201027957	missense variant	-	NC_000016.10:g.86567883T>G	1000Genomes
FOXC2	Q99958	p.Leu183Val	rs202085650	missense variant	-	NC_000016.10:g.86567882C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Glu185Lys	rs765735196	missense variant	-	NC_000016.10:g.86567888G>A	ExAC
FOXC2	Q99958	p.Pro187Ala	rs1281980227	missense variant	-	NC_000016.10:g.86567894C>G	gnomAD
FOXC2	Q99958	p.Pro187Ser	rs1281980227	missense variant	-	NC_000016.10:g.86567894C>T	gnomAD
FOXC2	Q99958	p.Pro187His	rs752945180	missense variant	-	NC_000016.10:g.86567895C>A	ExAC,gnomAD
FOXC2	Q99958	p.Pro188Ala	rs764181783	missense variant	-	NC_000016.10:g.86567897C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro188Gln	rs751774927	missense variant	-	NC_000016.10:g.86567898C>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro188Leu	rs751774927	missense variant	-	NC_000016.10:g.86567898C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala189Thr	rs746013945	missense variant	-	NC_000016.10:g.86567900G>A	ExAC,gnomAD
FOXC2	Q99958	p.Ala189Glu	rs200483763	missense variant	-	NC_000016.10:g.86567901C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala189Val	rs200483763	missense variant	-	NC_000016.10:g.86567901C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala190Val	rs1190156347	missense variant	-	NC_000016.10:g.86567904C>T	gnomAD
FOXC2	Q99958	p.Ser191Thr	rs1472483560	missense variant	-	NC_000016.10:g.86567906T>A	gnomAD
FOXC2	Q99958	p.Ser191Phe	rs78018668	missense variant	-	NC_000016.10:g.86567907C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Lys192Arg	rs748990709	missense variant	-	NC_000016.10:g.86567910A>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gly193Ser	rs768532058	missense variant	-	NC_000016.10:g.86567912G>A	ExAC
FOXC2	Q99958	p.Gly193Asp	rs774058810	missense variant	-	NC_000016.10:g.86567913G>A	ExAC,gnomAD
FOXC2	Q99958	p.Ala194Ser	rs747819833	missense variant	-	NC_000016.10:g.86567915G>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala194Val	rs771775997	missense variant	-	NC_000016.10:g.86567916C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro195Ser	rs200751941	missense variant	-	NC_000016.10:g.86567918C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro195Ala	rs200751941	missense variant	-	NC_000016.10:g.86567918C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro195Arg	rs1339388976	missense variant	-	NC_000016.10:g.86567919C>G	gnomAD
FOXC2	Q99958	p.Thr197Asn	rs1039275268	missense variant	-	NC_000016.10:g.86567925C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Thr197Ter	RCV000007677	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86567923dup	ClinVar
FOXC2	Q99958	p.Thr197Ile	rs1039275268	missense variant	-	NC_000016.10:g.86567925C>T	TOPMed,gnomAD
FOXC2	Q99958	p.His199Tyr	rs763401027	missense variant	-	NC_000016.10:g.86567930C>T	ExAC,gnomAD
FOXC2	Q99958	p.Ala201Val	rs764469563	missense variant	-	NC_000016.10:g.86567937C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Asp202Ala	rs201456476	missense variant	-	NC_000016.10:g.86567940A>C	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Asp202Asn	rs550350665	missense variant	-	NC_000016.10:g.86567939G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala203Thr	rs750515811	missense variant	-	NC_000016.10:g.86567942G>A	ExAC,gnomAD
FOXC2	Q99958	p.Ala203Asp	rs756307803	missense variant	-	NC_000016.10:g.86567943C>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala203Ser	rs750515811	missense variant	-	NC_000016.10:g.86567942G>T	ExAC,gnomAD
FOXC2	Q99958	p.Pro204Ala	rs779821571	missense variant	-	NC_000016.10:g.86567945C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro204Ser	rs779821571	missense variant	-	NC_000016.10:g.86567945C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Lys205Met	rs200766961	missense variant	-	NC_000016.10:g.86567949A>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Lys205Thr	rs200766961	missense variant	-	NC_000016.10:g.86567949A>C	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Lys205Asn	rs1377994021	missense variant	-	NC_000016.10:g.86567950G>T	gnomAD
FOXC2	Q99958	p.Ala207Thr	rs1467345739	missense variant	-	NC_000016.10:g.86567954G>A	gnomAD
FOXC2	Q99958	p.Glu208Lys	rs1401459395	missense variant	-	NC_000016.10:g.86567957G>A	gnomAD
FOXC2	Q99958	p.Glu208Ala	rs778706674	missense variant	-	NC_000016.10:g.86567958A>C	ExAC,TOPMed
FOXC2	Q99958	p.Lys209Met	rs771702369	missense variant	-	NC_000016.10:g.86567961A>T	ExAC,gnomAD
FOXC2	Q99958	p.Val211Met	rs1408848042	missense variant	-	NC_000016.10:g.86567966G>A	gnomAD
FOXC2	Q99958	p.Val212Met	rs201895173	missense variant	-	NC_000016.10:g.86567969G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ile213Met	rs1209688318	missense variant	-	NC_000016.10:g.86567974C>G	TOPMed
FOXC2	Q99958	p.Ile213Val	rs901535122	missense variant	-	NC_000016.10:g.86567972A>G	TOPMed,gnomAD
FOXC2	Q99958	p.Lys214Met	rs1440851843	missense variant	-	NC_000016.10:g.86567976A>T	TOPMed
FOXC2	Q99958	p.Ala217Val	rs776026772	missense variant	-	NC_000016.10:g.86567985C>T	ExAC,gnomAD
FOXC2	Q99958	p.Ala217Thr	rs1201456058	missense variant	-	NC_000016.10:g.86567984G>A	TOPMed
FOXC2	Q99958	p.Ala218Ser	rs763459418	missense variant	-	NC_000016.10:g.86567987G>T	ExAC,gnomAD
FOXC2	Q99958	p.Ala221Val	rs1276920391	missense variant	-	NC_000016.10:g.86567997C>T	TOPMed
FOXC2	Q99958	p.Ala221Thr	rs769046093	missense variant	-	NC_000016.10:g.86567996G>A	ExAC,gnomAD
FOXC2	Q99958	p.Pro223Leu	rs1435098450	missense variant	-	NC_000016.10:g.86568003C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Val224Ile	rs1376845781	missense variant	-	NC_000016.10:g.86568005G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Val224Leu	rs1376845781	missense variant	-	NC_000016.10:g.86568005G>C	TOPMed,gnomAD
FOXC2	Q99958	p.Thr226Ala	rs1450022946	missense variant	-	NC_000016.10:g.86568011A>G	gnomAD
FOXC2	Q99958	p.Thr230Lys	rs1428482010	missense variant	-	NC_000016.10:g.86568024C>A	gnomAD
FOXC2	Q99958	p.Thr230Ala	rs762323283	missense variant	-	NC_000016.10:g.86568023A>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Thr230Ser	rs762323283	missense variant	-	NC_000016.10:g.86568023A>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser232Asn	rs200039004	missense variant	-	NC_000016.10:g.86568030G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Glu234Gly	rs1392479190	missense variant	-	NC_000016.10:g.86568036A>G	gnomAD
FOXC2	Q99958	p.Ala236Val	rs1464942205	missense variant	-	NC_000016.10:g.86568042C>T	TOPMed
FOXC2	Q99958	p.Ala236Thr	rs1384708266	missense variant	-	NC_000016.10:g.86568041G>A	gnomAD
FOXC2	Q99958	p.Gln238Ter	RCV000627280	nonsense	-	NC_000016.10:g.86568047C>T	ClinVar
FOXC2	Q99958	p.Gln238Ter	rs1555531333	stop gained	-	NC_000016.10:g.86568047C>T	-
FOXC2	Q99958	p.Ser240Arg	rs1006060857	missense variant	-	NC_000016.10:g.86568055C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Pro241Thr	rs761004935	missense variant	-	NC_000016.10:g.86568056C>A	ExAC,gnomAD
FOXC2	Q99958	p.Arg242Ser	rs1022844166	missense variant	-	NC_000016.10:g.86568059C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Arg242Cys	rs1022844166	missense variant	-	NC_000016.10:g.86568059C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Arg242Pro	rs994829679	missense variant	-	NC_000016.10:g.86568060G>C	TOPMed,gnomAD
FOXC2	Q99958	p.Ser243Gly	rs1239476762	missense variant	-	NC_000016.10:g.86568062A>G	TOPMed
FOXC2	Q99958	p.Ala245Asp	rs1028065850	missense variant	-	NC_000016.10:g.86568069C>A	gnomAD
FOXC2	Q99958	p.Ser246Cys	rs766428637	missense variant	-	NC_000016.10:g.86568072C>G	ExAC,gnomAD
FOXC2	Q99958	p.Ala249Asp	rs754943026	missense variant	-	NC_000016.10:g.86568081C>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser251Cys	rs1465151906	missense variant	-	NC_000016.10:g.86568087C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Ser251Phe	rs1465151906	missense variant	-	NC_000016.10:g.86568087C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Pro252Leu	rs1190454093	missense variant	-	NC_000016.10:g.86568090C>T	gnomAD
FOXC2	Q99958	p.Gly254Val	rs778776008	missense variant	-	NC_000016.10:g.86568096G>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gly254Ser	rs966178183	missense variant	-	NC_000016.10:g.86568095G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Pro257Leu	rs922145263	missense variant	-	NC_000016.10:g.86568105C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Pro257Gln	rs922145263	missense variant	-	NC_000016.10:g.86568105C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Pro257Arg	rs922145263	missense variant	-	NC_000016.10:g.86568105C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Glu258Asp	rs1369678305	missense variant	-	NC_000016.10:g.86568109G>T	gnomAD
FOXC2	Q99958	p.Glu258Gly	rs1333050328	missense variant	-	NC_000016.10:g.86568108A>G	TOPMed
FOXC2	Q99958	p.His259Arg	rs752469815	missense variant	-	NC_000016.10:g.86568111A>G	ExAC,gnomAD
FOXC2	Q99958	p.His260Tyr	rs960751517	missense variant	-	NC_000016.10:g.86568113C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Ala262Val	rs758231887	missense variant	-	NC_000016.10:g.86568120C>T	ExAC,gnomAD
FOXC2	Q99958	p.Ala262Glu	rs758231887	missense variant	-	NC_000016.10:g.86568120C>A	ExAC,gnomAD
FOXC2	Q99958	p.Ala263Glu	rs1394244388	missense variant	-	NC_000016.10:g.86568123C>A	gnomAD
FOXC2	Q99958	p.Ala263Thr	rs1349299361	missense variant	-	NC_000016.10:g.86568122G>A	TOPMed
FOXC2	Q99958	p.Pro264Ala	rs1162566582	missense variant	-	NC_000016.10:g.86568125C>G	TOPMed
FOXC2	Q99958	p.Asn265Ser	rs988595499	missense variant	-	NC_000016.10:g.86568129A>G	TOPMed,gnomAD
FOXC2	Q99958	p.Asn265Lys	rs777576591	missense variant	-	NC_000016.10:g.86568130C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Leu267Met	rs1363730825	missense variant	-	NC_000016.10:g.86568134C>A	gnomAD
FOXC2	Q99958	p.Pro268Ser	rs968140048	missense variant	-	NC_000016.10:g.86568137C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Phe270Leu	rs979559644	missense variant	-	NC_000016.10:g.86568143T>C	TOPMed,gnomAD
FOXC2	Q99958	p.Phe270Val	rs979559644	missense variant	-	NC_000016.10:g.86568143T>G	TOPMed,gnomAD
FOXC2	Q99958	p.Val272Met	rs1272731899	missense variant	-	NC_000016.10:g.86568149G>A	gnomAD
FOXC2	Q99958	p.Glu273Asp	rs1246678866	missense variant	-	NC_000016.10:g.86568154G>C	TOPMed
FOXC2	Q99958	p.Asn274Lys	rs1219975273	missense variant	-	NC_000016.10:g.86568157C>G	TOPMed
FOXC2	Q99958	p.Ile275Met	rs1323021497	missense variant	-	NC_000016.10:g.86568160C>G	TOPMed
FOXC2	Q99958	p.Met276Arg	rs910751353	missense variant	-	NC_000016.10:g.86568162T>G	TOPMed
FOXC2	Q99958	p.Met276Ile	rs1238997285	missense variant	-	NC_000016.10:g.86568163G>A	TOPMed
FOXC2	Q99958	p.Leu278Val	rs746615192	missense variant	-	NC_000016.10:g.86568167C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Arg279Ter	rs1210395820	stop gained	-	NC_000016.10:g.86568170C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Ser281Ter	rs1464430777	stop gained	-	NC_000016.10:g.86568177C>A	gnomAD
FOXC2	Q99958	p.Pro282Leu	rs1421499933	missense variant	-	NC_000016.10:g.86568180C>T	gnomAD
FOXC2	Q99958	p.Pro282Ser	rs1257663796	missense variant	-	NC_000016.10:g.86568179C>T	gnomAD
FOXC2	Q99958	p.Pro283Leu	rs1412308334	missense variant	-	NC_000016.10:g.86568183C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Gly284Ala	rs1438469067	missense variant	-	NC_000016.10:g.86568186G>C	TOPMed
FOXC2	Q99958	p.Gly284Ser	rs780685080	missense variant	-	NC_000016.10:g.86568185G>A	ExAC,gnomAD
FOXC2	Q99958	p.Gly285Arg	rs976382789	missense variant	-	NC_000016.10:g.86568188G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Glu286Gly	rs745434990	missense variant	-	NC_000016.10:g.86568192A>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro289Thr	rs1303899730	missense variant	-	NC_000016.10:g.86568200C>A	gnomAD
FOXC2	Q99958	p.Ala291Thr	rs769190596	missense variant	-	NC_000016.10:g.86568206G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gly292Arg	rs1351403449	missense variant	-	NC_000016.10:g.86568209G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Arg293Gly	rs1267050345	missense variant	-	NC_000016.10:g.86568212C>G	TOPMed
FOXC2	Q99958	p.Gly295Asp	rs1266019903	missense variant	-	NC_000016.10:g.86568219G>A	gnomAD
FOXC2	Q99958	p.Gly295Ser	rs774767014	missense variant	-	NC_000016.10:g.86568218G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Val297Met	rs1047896062	missense variant	-	NC_000016.10:g.86568224G>A	TOPMed
FOXC2	Q99958	p.Val298Met	rs941794556	missense variant	-	NC_000016.10:g.86568227G>A	TOPMed
FOXC2	Q99958	p.Pro299Ser	rs1251895222	missense variant	-	NC_000016.10:g.86568230C>T	gnomAD
FOXC2	Q99958	p.Pro299Arg	rs1239256942	missense variant	-	NC_000016.10:g.86568231C>G	TOPMed
FOXC2	Q99958	p.Pro300Ser	rs1044231546	missense variant	-	NC_000016.10:g.86568233C>T	TOPMed
FOXC2	Q99958	p.Leu301Val	rs1220883472	missense variant	-	NC_000016.10:g.86568236C>G	TOPMed
FOXC2	Q99958	p.Leu301Ter	RCV000627628	frameshift	-	NC_000016.10:g.86568237_86568258del	ClinVar
FOXC2	Q99958	p.Ala302Gly	rs1179487781	missense variant	-	NC_000016.10:g.86568240C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Ala302Glu	rs1179487781	missense variant	-	NC_000016.10:g.86568240C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Leu303Met	rs1410259766	missense variant	-	NC_000016.10:g.86568242C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Pro304Ser	rs905712433	missense variant	-	NC_000016.10:g.86568245C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Tyr305Ter	RCV000007679	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568249_86568256del	ClinVar
FOXC2	Q99958	p.Ala306Val	rs1300305973	missense variant	-	NC_000016.10:g.86568252C>T	TOPMed
FOXC2	Q99958	p.Pro309Leu	rs1377437893	missense variant	-	NC_000016.10:g.86568261C>T	TOPMed
FOXC2	Q99958	p.Gly314Asp	rs760918154	missense variant	-	NC_000016.10:g.86568276G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Cys317Ser	rs1430533990	missense variant	-	NC_000016.10:g.86568284T>A	TOPMed,gnomAD
FOXC2	Q99958	p.Cys317Arg	rs1430533990	missense variant	-	NC_000016.10:g.86568284T>C	TOPMed,gnomAD
FOXC2	Q99958	p.Ala318Val	rs1482689345	missense variant	-	NC_000016.10:g.86568288C>T	TOPMed
FOXC2	Q99958	p.Gln319Lys	rs1009564783	missense variant	-	NC_000016.10:g.86568290C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Gly320Asp	rs1323948950	missense variant	-	NC_000016.10:g.86568294G>A	TOPMed
FOXC2	Q99958	p.Leu321Pro	rs1170888894	missense variant	-	NC_000016.10:g.86568297T>C	TOPMed,gnomAD
FOXC2	Q99958	p.Glu322Lys	rs1401659559	missense variant	-	NC_000016.10:g.86568299G>A	gnomAD
FOXC2	Q99958	p.Ala323Ser	rs968089550	missense variant	-	NC_000016.10:g.86568302G>T	TOPMed,gnomAD
FOXC2	Q99958	p.Gly324Trp	rs776762340	missense variant	-	NC_000016.10:g.86568305G>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gly324Arg	rs776762340	missense variant	-	NC_000016.10:g.86568305G>C	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala325Val	rs1382835650	missense variant	-	NC_000016.10:g.86568309C>T	TOPMed
FOXC2	Q99958	p.Ala326Gly	rs759586263	missense variant	-	NC_000016.10:g.86568312C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala326Thr	rs1210002465	missense variant	-	NC_000016.10:g.86568311G>A	gnomAD
FOXC2	Q99958	p.Gly327Arg	rs868505894	missense variant	-	NC_000016.10:g.86568314G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Gly327Trp	rs868505894	missense variant	-	NC_000016.10:g.86568314G>T	TOPMed,gnomAD
FOXC2	Q99958	p.Gly327Arg	rs868505894	missense variant	-	NC_000016.10:g.86568314G>C	TOPMed,gnomAD
FOXC2	Q99958	p.Gly328Asp	rs752592638	missense variant	-	NC_000016.10:g.86568318G>A	ExAC,gnomAD
FOXC2	Q99958	p.Tyr329Cys	rs1170640079	missense variant	-	NC_000016.10:g.86568321A>G	TOPMed
FOXC2	Q99958	p.Gln330His	rs758354851	missense variant	-	NC_000016.10:g.86568325G>T	ExAC,gnomAD
FOXC2	Q99958	p.Gln330Ter	RCV000309850	frameshift	-	NC_000016.10:g.86568323dup	ClinVar
FOXC2	Q99958	p.Gln330Lys	rs1192200588	missense variant	-	NC_000016.10:g.86568323C>A	gnomAD
FOXC2	Q99958	p.Met333Ter	RCV000627503	frameshift	-	NC_000016.10:g.86568313_86568331dup	ClinVar
FOXC2	Q99958	p.Met333Ile	rs1173486305	missense variant	-	NC_000016.10:g.86568334G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Met336Leu	rs763817998	missense variant	-	NC_000016.10:g.86568341A>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Met336Ter	RCV000007680	frameshift	Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	NC_000016.10:g.86568341dup	ClinVar
FOXC2	Q99958	p.Met336Ile	rs1306238427	missense variant	-	NC_000016.10:g.86568343G>A	gnomAD
FOXC2	Q99958	p.Ser337Thr	rs1422722043	missense variant	-	NC_000016.10:g.86568345G>C	TOPMed
FOXC2	Q99958	p.Ser337Gly	rs1354235799	missense variant	-	NC_000016.10:g.86568344A>G	gnomAD
FOXC2	Q99958	p.Thr340Ser	rs1233518712	missense variant	-	NC_000016.10:g.86568354C>G	gnomAD
FOXC2	Q99958	p.Thr340Ser	rs756928540	missense variant	-	NC_000016.10:g.86568353A>T	ExAC,gnomAD
FOXC2	Q99958	p.Gly341Ala	rs1235420981	missense variant	-	NC_000016.10:g.86568357G>C	gnomAD
FOXC2	Q99958	p.Gly341Trp	rs780764049	missense variant	-	NC_000016.10:g.86568356G>T	ExAC,gnomAD
FOXC2	Q99958	p.Gly341Arg	rs780764049	missense variant	-	NC_000016.10:g.86568356G>A	ExAC,gnomAD
FOXC2	Q99958	p.Ala342Thr	rs745358132	missense variant	-	NC_000016.10:g.86568359G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Glu343Lys	rs1223233551	missense variant	-	NC_000016.10:g.86568362G>A	gnomAD
FOXC2	Q99958	p.Arg344Gln	rs983131324	missense variant	-	NC_000016.10:g.86568366G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Met348Ile	rs867975151	missense variant	-	NC_000016.10:g.86568379G>T	TOPMed
FOXC2	Q99958	p.Met348Ile	rs867975151	missense variant	-	NC_000016.10:g.86568379G>A	TOPMed
FOXC2	Q99958	p.Cys349Phe	rs1228298677	missense variant	-	NC_000016.10:g.86568381G>T	TOPMed
FOXC2	Q99958	p.Val350Ile	rs1193581033	missense variant	-	NC_000016.10:g.86568383G>A	gnomAD
FOXC2	Q99958	p.Pro351Leu	rs1249241018	missense variant	-	NC_000016.10:g.86568387C>T	gnomAD
FOXC2	Q99958	p.Pro352Ser	rs1166855831	missense variant	-	NC_000016.10:g.86568389C>T	gnomAD
FOXC2	Q99958	p.Pro352Ala	rs1166855831	missense variant	-	NC_000016.10:g.86568389C>G	gnomAD
FOXC2	Q99958	p.Ala353Val	rs1418820069	missense variant	-	NC_000016.10:g.86568393C>T	gnomAD
FOXC2	Q99958	p.Leu354Val	rs1406176865	missense variant	-	NC_000016.10:g.86568395C>G	gnomAD
FOXC2	Q99958	p.Glu356Gly	rs1167129101	missense variant	-	NC_000016.10:g.86568402A>G	gnomAD
FOXC2	Q99958	p.Ala357Ser	rs1339925147	missense variant	-	NC_000016.10:g.86568404G>T	TOPMed
FOXC2	Q99958	p.Pro362Arg	rs1320939868	missense variant	-	NC_000016.10:g.86568420C>G	gnomAD
FOXC2	Q99958	p.Gly364Cys	rs1367357869	missense variant	-	NC_000016.10:g.86568425G>T	TOPMed,gnomAD
FOXC2	Q99958	p.Pro365Ser	rs908900424	missense variant	-	NC_000016.10:g.86568428C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Pro365Ter	RCV000007672	frameshift	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568425_86568428dup	ClinVar
FOXC2	Q99958	p.Thr366Lys	rs1403166908	missense variant	-	NC_000016.10:g.86568432C>A	TOPMed
FOXC2	Q99958	p.Ser367Pro	rs1287245595	missense variant	-	NC_000016.10:g.86568434T>C	TOPMed,gnomAD
FOXC2	Q99958	p.Pro368Thr	rs1213502441	missense variant	-	NC_000016.10:g.86568437C>A	gnomAD
FOXC2	Q99958	p.Pro368Leu	rs1435412168	missense variant	-	NC_000016.10:g.86568438C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Pro368Ser	rs1213502441	missense variant	-	NC_000016.10:g.86568437C>T	gnomAD
FOXC2	Q99958	p.Leu369Val	rs1269147501	missense variant	-	NC_000016.10:g.86568440C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Ser370Thr	rs747439511	missense variant	-	NC_000016.10:g.86568444G>C	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser370Gly	rs773710853	missense variant	-	NC_000016.10:g.86568443A>G	ExAC,gnomAD
FOXC2	Q99958	p.Ser370Arg	rs1197426916	missense variant	-	NC_000016.10:g.86568445C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Ala371Thr	rs1241625240	missense variant	-	NC_000016.10:g.86568446G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Ala371Ser	rs1241625240	missense variant	-	NC_000016.10:g.86568446G>T	TOPMed,gnomAD
FOXC2	Q99958	p.Leu372Phe	rs771164168	missense variant	-	NC_000016.10:g.86568449C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Leu372Ile	rs771164168	missense variant	-	NC_000016.10:g.86568449C>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Leu374Phe	rs1360506564	missense variant	-	NC_000016.10:g.86568455C>T	TOPMed
FOXC2	Q99958	p.Ala375Gly	rs1183648984	missense variant	-	NC_000016.10:g.86568459C>G	gnomAD
FOXC2	Q99958	p.Ala376Val	rs1057393385	missense variant	-	NC_000016.10:g.86568462C>T	TOPMed
FOXC2	Q99958	p.Gly377Arg	rs1461111009	missense variant	-	NC_000016.10:g.86568464G>C	gnomAD
FOXC2	Q99958	p.Gly377Ser	rs1461111009	missense variant	-	NC_000016.10:g.86568464G>A	gnomAD
FOXC2	Q99958	p.Glu379Asp	rs1330171380	missense variant	-	NC_000016.10:g.86568472G>C	TOPMed
FOXC2	Q99958	p.Glu379Gly	rs1390495096	missense variant	-	NC_000016.10:g.86568471A>G	TOPMed,gnomAD
FOXC2	Q99958	p.Glu379Gln	rs759834655	missense variant	-	NC_000016.10:g.86568470G>C	ExAC
FOXC2	Q99958	p.Gly380Ser	rs1455584938	missense variant	-	NC_000016.10:g.86568473G>A	gnomAD
FOXC2	Q99958	p.Leu382Pro	rs1340575651	missense variant	-	NC_000016.10:g.86568480T>C	gnomAD
FOXC2	Q99958	p.Ala383Thr	rs1010596302	missense variant	-	NC_000016.10:g.86568482G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Ala384Val	rs1228560228	missense variant	-	NC_000016.10:g.86568486C>T	gnomAD
FOXC2	Q99958	p.Ala384Ser	rs1354501421	missense variant	-	NC_000016.10:g.86568485G>T	gnomAD
FOXC2	Q99958	p.Thr385Arg	rs1042375406	missense variant	-	NC_000016.10:g.86568489C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Gly386Asp	rs1198087251	missense variant	-	NC_000016.10:g.86568492G>A	TOPMed
FOXC2	Q99958	p.His388Tyr	rs1299156933	missense variant	-	NC_000016.10:g.86568497C>T	TOPMed,gnomAD
FOXC2	Q99958	p.His389Gln	rs1285634846	missense variant	-	NC_000016.10:g.86568502C>A	TOPMed
FOXC2	Q99958	p.Gly393Cys	rs1443463305	missense variant	-	NC_000016.10:g.86568512G>T	gnomAD
FOXC2	Q99958	p.Pro400Leu	rs1353324793	missense variant	-	NC_000016.10:g.86568534C>T	TOPMed
FOXC2	Q99958	p.Pro402Ser	rs1402873848	missense variant	-	NC_000016.10:g.86568539C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Pro402Leu	RCV000735837	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568540C>T	ClinVar
FOXC2	Q99958	p.Pro402Thr	rs1402873848	missense variant	-	NC_000016.10:g.86568539C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Pro403Ser	rs1329928295	missense variant	-	NC_000016.10:g.86568542C>T	TOPMed
FOXC2	Q99958	p.Pro403Leu	rs1416097444	missense variant	-	NC_000016.10:g.86568543C>T	gnomAD
FOXC2	Q99958	p.Pro404Ser	rs1310555466	missense variant	-	NC_000016.10:g.86568545C>T	gnomAD
FOXC2	Q99958	p.Ala405Pro	rs1410085923	missense variant	-	NC_000016.10:g.86568548G>C	gnomAD
FOXC2	Q99958	p.Pro406Thr	rs775561441	missense variant	-	NC_000016.10:g.86568551C>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gln407His	rs1279329187	missense variant	-	NC_000016.10:g.86568556G>C	gnomAD
FOXC2	Q99958	p.Pro410Leu	rs751340831	missense variant	-	NC_000016.10:g.86568564C>T	ExAC,gnomAD
FOXC2	Q99958	p.Pro410Ala	rs1295998755	missense variant	-	NC_000016.10:g.86568563C>G	TOPMed
FOXC2	Q99958	p.Pro412Leu	rs1276159116	missense variant	-	NC_000016.10:g.86568570C>T	gnomAD
FOXC2	Q99958	p.Pro414Leu	rs1206170618	missense variant	-	NC_000016.10:g.86568576C>T	gnomAD
FOXC2	Q99958	p.Gly415Arg	rs868817257	missense variant	-	NC_000016.10:g.86568578G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Gly415Arg	rs868817257	missense variant	-	NC_000016.10:g.86568578G>C	TOPMed,gnomAD
FOXC2	Q99958	p.Ala417Pro	rs1478970651	missense variant	-	NC_000016.10:g.86568584G>C	TOPMed,gnomAD
FOXC2	Q99958	p.Ala417Thr	rs1478970651	missense variant	-	NC_000016.10:g.86568584G>A	TOPMed,gnomAD
FOXC2	Q99958	p.Ala419Val	rs1393979699	missense variant	-	NC_000016.10:g.86568591C>T	gnomAD
FOXC2	Q99958	p.Gln420His	rs755810324	missense variant	-	NC_000016.10:g.86568595G>T	ExAC,gnomAD
FOXC2	Q99958	p.Gln420Ter	RCV000735838	nonsense	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568593C>T	ClinVar
FOXC2	Q99958	p.Ala421Thr	rs1393961998	missense variant	-	NC_000016.10:g.86568596G>A	gnomAD
FOXC2	Q99958	p.Ala422Val	rs200408083	missense variant	-	NC_000016.10:g.86568600C>T	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala422Gly	rs200408083	missense variant	-	NC_000016.10:g.86568600C>G	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser423Cys	rs1331977613	missense variant	-	NC_000016.10:g.86568603C>G	gnomAD
FOXC2	Q99958	p.Ser423Pro	rs1328614353	missense variant	-	NC_000016.10:g.86568602T>C	gnomAD
FOXC2	Q99958	p.Trp424Cys	rs1301819465	missense variant	-	NC_000016.10:g.86568607G>T	gnomAD
FOXC2	Q99958	p.Leu426Phe	rs1347765098	missense variant	-	NC_000016.10:g.86568611C>T	gnomAD
FOXC2	Q99958	p.Asn427Ser	rs758964697	missense variant	-	NC_000016.10:g.86568615A>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Asn427Lys	rs778476389	missense variant	-	NC_000016.10:g.86568616C>A	ExAC,gnomAD
FOXC2	Q99958	p.His428Arg	rs771161631	missense variant	-	NC_000016.10:g.86568618A>G	ExAC,gnomAD
FOXC2	Q99958	p.His428Tyr	rs747371262	missense variant	-	NC_000016.10:g.86568617C>T	ExAC,gnomAD
FOXC2	Q99958	p.Ser429Ile	rs375372556	missense variant	-	NC_000016.10:g.86568621G>T	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser429Thr	rs375372556	missense variant	-	NC_000016.10:g.86568621G>C	ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser429Arg	rs1453065977	missense variant	-	NC_000016.10:g.86568620A>C	gnomAD
FOXC2	Q99958	p.Ser429Arg	rs746020712	missense variant	-	NC_000016.10:g.86568622C>G	ExAC,gnomAD
FOXC2	Q99958	p.Gly430Glu	rs770009370	missense variant	-	NC_000016.10:g.86568624G>A	ExAC
FOXC2	Q99958	p.Leu432Val	rs1169998210	missense variant	-	NC_000016.10:g.86568629C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Asn433Ser	rs1370781346	missense variant	-	NC_000016.10:g.86568633A>G	gnomAD
FOXC2	Q99958	p.His434Arg	rs1224621278	missense variant	-	NC_000016.10:g.86568636A>G	TOPMed
FOXC2	Q99958	p.Leu435Pro	rs1443635063	missense variant	-	NC_000016.10:g.86568639T>C	gnomAD
FOXC2	Q99958	p.Leu435Phe	rs1391935424	missense variant	-	NC_000016.10:g.86568638C>T	gnomAD
FOXC2	Q99958	p.Pro436Ser	rs1370998204	missense variant	-	NC_000016.10:g.86568641C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Pro436Leu	rs768556399	missense variant	-	NC_000016.10:g.86568642C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro436His	rs768556399	missense variant	-	NC_000016.10:g.86568642C>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Pro436Arg	rs768556399	missense variant	-	NC_000016.10:g.86568642C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.His438Leu	rs761837862	missense variant	-	NC_000016.10:g.86568648A>T	ExAC,gnomAD
FOXC2	Q99958	p.His438Tyr	rs1324719876	missense variant	-	NC_000016.10:g.86568647C>T	gnomAD
FOXC2	Q99958	p.Thr439Arg	rs1266309492	missense variant	-	NC_000016.10:g.86568651C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Thr439Lys	rs1266309492	missense variant	-	NC_000016.10:g.86568651C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Ala442Asp	rs908848092	missense variant	-	NC_000016.10:g.86568660C>A	TOPMed,gnomAD
FOXC2	Q99958	p.Gln444Arg	RCV000660533	missense variant	Distichiasis-lymphedema syndrome (LPHDST)	NC_000016.10:g.86568666A>G	ClinVar
FOXC2	Q99958	p.Gln444Ter	rs1272296263	stop gained	-	NC_000016.10:g.86568665C>T	gnomAD
FOXC2	Q99958	p.Gln444Arg	rs147258453	missense variant	-	NC_000016.10:g.86568666A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Gln445Lys	rs760244407	missense variant	-	NC_000016.10:g.86568668C>A	ExAC,gnomAD
FOXC2	Q99958	p.Phe447Leu	rs1187618341	missense variant	-	NC_000016.10:g.86568676C>A	gnomAD
FOXC2	Q99958	p.Phe447Ser	rs1449081831	missense variant	-	NC_000016.10:g.86568675T>C	TOPMed,gnomAD
FOXC2	Q99958	p.Pro448Ser	rs754578087	missense variant	-	NC_000016.10:g.86568677C>T	ExAC,gnomAD
FOXC2	Q99958	p.Val450Met	rs751964046	missense variant	-	NC_000016.10:g.86568683G>A	ExAC,gnomAD
FOXC2	Q99958	p.Arg451Gln	rs530376696	missense variant	-	NC_000016.10:g.86568687G>A	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Arg451Pro	rs530376696	missense variant	-	NC_000016.10:g.86568687G>C	1000Genomes,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Met453Val	rs1204882128	missense variant	-	NC_000016.10:g.86568692A>G	TOPMed
FOXC2	Q99958	p.Met453Ile	rs1003293974	missense variant	-	NC_000016.10:g.86568694G>A	gnomAD
FOXC2	Q99958	p.Phe454Ser	rs1350221322	missense variant	-	NC_000016.10:g.86568696T>C	TOPMed,gnomAD
FOXC2	Q99958	p.Asn455Ser	rs138612549	missense variant	-	NC_000016.10:g.86568699A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Asn455Thr	rs138612549	missense variant	-	NC_000016.10:g.86568699A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Asn455Lys	rs769989399	missense variant	-	NC_000016.10:g.86568700C>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ser456Phe	rs927024778	missense variant	-	NC_000016.10:g.86568702C>T	TOPMed
FOXC2	Q99958	p.His457Arg	rs1313523405	missense variant	-	NC_000016.10:g.86568705A>G	gnomAD
FOXC2	Q99958	p.Arg458Gln	rs1357660848	missense variant	-	NC_000016.10:g.86568708G>A	gnomAD
FOXC2	Q99958	p.Gly460Glu	rs768679048	missense variant	-	NC_000016.10:g.86568714G>A	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Glu462Asp	rs761593151	missense variant	-	NC_000016.10:g.86568721G>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Glu462Ter	rs774509050	stop gained	-	NC_000016.10:g.86568719G>T	ExAC,gnomAD
FOXC2	Q99958	p.Gly467Ala	rs1435806729	missense variant	-	NC_000016.10:g.86568735G>C	gnomAD
FOXC2	Q99958	p.Glu468Ter	rs760599635	stop gained	-	NC_000016.10:g.86568737G>T	ExAC,gnomAD
FOXC2	Q99958	p.Gln470Lys	rs1398108687	missense variant	-	NC_000016.10:g.86568743C>A	TOPMed
FOXC2	Q99958	p.Gln470Arg	rs1172419110	missense variant	-	NC_000016.10:g.86568744A>G	TOPMed
FOXC2	Q99958	p.Gln470His	rs1474029364	missense variant	-	NC_000016.10:g.86568745G>T	TOPMed,gnomAD
FOXC2	Q99958	p.Gln470His	rs1474029364	missense variant	-	NC_000016.10:g.86568745G>C	TOPMed,gnomAD
FOXC2	Q99958	p.Ser472Gly	rs766101728	missense variant	-	NC_000016.10:g.86568749A>G	ExAC,gnomAD
FOXC2	Q99958	p.Gly473Asp	rs753504239	missense variant	-	NC_000016.10:g.86568753G>A	ExAC,gnomAD
FOXC2	Q99958	p.Ala475Asp	rs1344015019	missense variant	-	NC_000016.10:g.86568759C>A	gnomAD
FOXC2	Q99958	p.Ser476Arg	rs865930279	missense variant	-	NC_000016.10:g.86568761A>C	gnomAD
FOXC2	Q99958	p.Pro480Leu	rs1162897672	missense variant	-	NC_000016.10:g.86568774C>T	TOPMed
FOXC2	Q99958	p.Tyr481Cys	rs752256878	missense variant	-	NC_000016.10:g.86568777A>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Arg482Ser	rs1413198036	missense variant	-	NC_000016.10:g.86568781A>T	gnomAD
FOXC2	Q99958	p.Thr484Met	rs1312452778	missense variant	-	NC_000016.10:g.86568786C>T	gnomAD
FOXC2	Q99958	p.Leu487Pro	RCV000782238	missense variant	-	NC_000016.10:g.86568795T>C	ClinVar
FOXC2	Q99958	p.Leu487Pro	rs781751310	missense variant	-	NC_000016.10:g.86568795T>C	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Tyr488Asn	rs532622899	missense variant	-	NC_000016.10:g.86568797T>A	1000Genomes,ExAC,gnomAD
FOXC2	Q99958	p.Tyr488Cys	rs145316350	missense variant	-	NC_000016.10:g.86568798A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Arg489His	rs945964165	missense variant	-	NC_000016.10:g.86568801G>A	TOPMed
FOXC2	Q99958	p.His490Gln	rs1307600516	missense variant	-	NC_000016.10:g.86568805C>A	TOPMed
FOXC2	Q99958	p.His490Tyr	rs755203127	missense variant	-	NC_000016.10:g.86568803C>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.His490Leu	rs778788148	missense variant	-	NC_000016.10:g.86568804A>T	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.His490Arg	rs778788148	missense variant	-	NC_000016.10:g.86568804A>G	ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Ala491Glu	rs1288440206	missense variant	-	NC_000016.10:g.86568807C>A	TOPMed
FOXC2	Q99958	p.Ala491Ser	rs1252138640	missense variant	-	NC_000016.10:g.86568806G>T	gnomAD
FOXC2	Q99958	p.Ala492Asp	rs748321311	missense variant	-	NC_000016.10:g.86568810C>A	ExAC,gnomAD
FOXC2	Q99958	p.Ala492Val	rs748321311	missense variant	-	NC_000016.10:g.86568810C>T	ExAC,gnomAD
FOXC2	Q99958	p.Pro493Arg	rs746977797	missense variant	-	NC_000016.10:g.86568813C>G	ExAC,gnomAD
FOXC2	Q99958	p.Pro493Ser	rs773245007	missense variant	-	NC_000016.10:g.86568812C>T	ExAC,gnomAD
FOXC2	Q99958	p.Tyr494His	rs1396994758	missense variant	-	NC_000016.10:g.86568815T>C	gnomAD
FOXC2	Q99958	p.Tyr494Cys	rs776582765	missense variant	-	NC_000016.10:g.86568816A>G	ExAC,gnomAD
FOXC2	Q99958	p.Ser495Cys	rs1371479295	missense variant	-	NC_000016.10:g.86568819C>G	TOPMed,gnomAD
FOXC2	Q99958	p.Ser495Phe	rs1371479295	missense variant	-	NC_000016.10:g.86568819C>T	TOPMed,gnomAD
FOXC2	Q99958	p.Tyr496Cys	rs1219745782	missense variant	-	NC_000016.10:g.86568822A>G	TOPMed,gnomAD
FOXC2	Q99958	p.Asp497Asn	rs774848801	missense variant	-	NC_000016.10:g.86568824G>A	ExAC,gnomAD
FOXC2	Q99958	p.Cys498Ser	rs61753346	missense variant	-	NC_000016.10:g.86568827T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Cys498Arg	rs61753346	missense variant	-	NC_000016.10:g.86568827T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FOXC2	Q99958	p.Thr499Ala	rs750901158	missense variant	-	NC_000016.10:g.86568830A>G	ExAC,gnomAD
FOXC2	Q99958	p.Thr499Arg	rs1442755880	missense variant	-	NC_000016.10:g.86568831C>G	TOPMed
FOXC2	Q99958	p.Lys500Thr	rs766670511	missense variant	-	NC_000016.10:g.86568834A>C	ExAC,gnomAD
FOXC2	Q99958	p.Tyr501Ter	rs11640590	stop gained	-	NC_000016.10:g.86568838C>A	gnomAD
CPLANE2	Q9BU20	p.Pro4Ala	rs1049751469	missense variant	-	NC_000001.11:g.16236733G>C	TOPMed
CPLANE2	Q9BU20	p.Val6Leu	rs1365396319	missense variant	-	NC_000001.11:g.16236727C>G	TOPMed
CPLANE2	Q9BU20	p.Val6Met	rs1365396319	missense variant	-	NC_000001.11:g.16236727C>T	TOPMed
CPLANE2	Q9BU20	p.Pro7Arg	rs947424262	missense variant	-	NC_000001.11:g.16236723G>C	gnomAD
CPLANE2	Q9BU20	p.Pro7Leu	rs947424262	missense variant	-	NC_000001.11:g.16236723G>A	gnomAD
CPLANE2	Q9BU20	p.Gly8Cys	rs1003620441	missense variant	-	NC_000001.11:g.16236721C>A	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly8Asp	rs902562373	missense variant	-	NC_000001.11:g.16236720C>T	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly8Ser	rs1003620441	missense variant	-	NC_000001.11:g.16236721C>T	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly8Val	rs902562373	missense variant	-	NC_000001.11:g.16236720C>A	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Pro13Leu	rs1451304512	missense variant	-	NC_000001.11:g.16236705G>A	gnomAD
CPLANE2	Q9BU20	p.Pro13Gln	rs1451304512	missense variant	-	NC_000001.11:g.16236705G>T	gnomAD
CPLANE2	Q9BU20	p.His16Tyr	rs1330474818	missense variant	-	NC_000001.11:g.16236697G>A	gnomAD
CPLANE2	Q9BU20	p.His16Gln	rs142953444	missense variant	-	NC_000001.11:g.16236695G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Glu17Gln	rs1190287323	missense variant	-	NC_000001.11:g.16236694C>G	TOPMed
CPLANE2	Q9BU20	p.Glu17Asp	rs1484789696	missense variant	-	NC_000001.11:g.16236692C>G	TOPMed
CPLANE2	Q9BU20	p.Ser18Arg	rs1395594992	missense variant	-	NC_000001.11:g.16236689A>C	gnomAD
CPLANE2	Q9BU20	p.Glu20Lys	rs766400721	missense variant	-	NC_000001.11:g.16236685C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Glu20Ter	rs766400721	stop gained	-	NC_000001.11:g.16236685C>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly21Asp	rs756310024	missense variant	-	NC_000001.11:g.16236681C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Glu23Val	rs750622592	missense variant	-	NC_000001.11:g.16236675T>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Tyr24Ter	rs767921302	stop gained	-	NC_000001.11:g.16236671G>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Tyr24Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.16236671_16236672insT	NCI-TCGA
CPLANE2	Q9BU20	p.Ala26Asp	rs1437606540	missense variant	-	NC_000001.11:g.16236666G>T	gnomAD
CPLANE2	Q9BU20	p.Ala26Thr	rs1335875474	missense variant	-	NC_000001.11:g.16236667C>T	TOPMed
CPLANE2	Q9BU20	p.Ile28Val	rs1291086240	missense variant	-	NC_000001.11:g.16236661T>C	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Leu29Arg	rs1357859729	missense variant	-	NC_000001.11:g.16236657A>C	gnomAD
CPLANE2	Q9BU20	p.Arg33Cys	rs762224231	missense variant	-	NC_000001.11:g.16236646G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg33Gly	rs762224231	missense variant	-	NC_000001.11:g.16236646G>C	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg34Leu	rs764625811	missense variant	-	NC_000001.11:g.16236642C>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg34Trp	rs752040734	missense variant	-	NC_000001.11:g.16236643G>A	ExAC,gnomAD
CPLANE2	Q9BU20	p.Arg34Gly	rs752040734	missense variant	-	NC_000001.11:g.16236643G>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Val36Leu	rs767270731	missense variant	-	NC_000001.11:g.16236637C>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly38Val	rs142517793	missense variant	-	NC_000001.11:g.16233764C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Leu39Arg	rs756216694	missense variant	-	NC_000001.11:g.16233761A>C	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg42Trp	rs145675226	missense variant	-	NC_000001.11:g.16233753G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg42Gln	rs1045896146	missense variant	-	NC_000001.11:g.16233752C>T	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Leu46Pro	rs1389243634	missense variant	-	NC_000001.11:g.16233740A>G	TOPMed
CPLANE2	Q9BU20	p.Pro47Ser	rs781318996	missense variant	-	NC_000001.11:g.16233738G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Pro47Leu	rs202049255	missense variant	-	NC_000001.11:g.16233737G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Val49Met	rs138803019	missense variant	-	NC_000001.11:g.16233732C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Val49Ala	rs1225040365	missense variant	-	NC_000001.11:g.16233731A>G	gnomAD
CPLANE2	Q9BU20	p.Val49Leu	rs138803019	missense variant	-	NC_000001.11:g.16233732C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ser50Phe	COSM898936	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233728G>A	NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Ser50Cys	rs536483717	missense variant	-	NC_000001.11:g.16233728G>C	1000Genomes,ExAC,gnomAD
CPLANE2	Q9BU20	p.Ile51Leu	rs765905778	missense variant	-	NC_000001.11:g.16233726T>G	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ile51Met	rs1276787213	missense variant	-	NC_000001.11:g.16233724A>C	gnomAD
CPLANE2	Q9BU20	p.Ile51Thr	rs771786071	missense variant	-	NC_000001.11:g.16233725A>G	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Asp52Asn	rs1363941930	missense variant	-	NC_000001.11:g.16233723C>T	gnomAD
CPLANE2	Q9BU20	p.Ser55Arg	rs1157011034	missense variant	-	NC_000001.11:g.16233712G>C	TOPMed
CPLANE2	Q9BU20	p.Lys57Met	rs1220641495	missense variant	-	NC_000001.11:g.16233707T>A	gnomAD
CPLANE2	Q9BU20	p.Lys57Asn	rs1318730463	missense variant	-	NC_000001.11:g.16233706C>G	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ile58Met	rs772894659	missense variant	-	NC_000001.11:g.16233703G>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Ser61Cys	rs567329599	missense variant	-	NC_000001.11:g.16233695G>C	1000Genomes,ExAC,gnomAD
CPLANE2	Q9BU20	p.Gly62Glu	COSM6122402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233692C>T	NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Gly62Trp	rs368208180	missense variant	-	NC_000001.11:g.16233693C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly62Arg	rs368208180	missense variant	-	NC_000001.11:g.16233693C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ser64Thr	rs749182013	missense variant	-	NC_000001.11:g.16233686C>G	ExAC,gnomAD
CPLANE2	Q9BU20	p.Gly65Ser	rs547718416	missense variant	-	NC_000001.11:g.16233684C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly65Asp	rs769896751	missense variant	-	NC_000001.11:g.16233683C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Val66Ala	rs781364983	missense variant	-	NC_000001.11:g.16233680A>G	ExAC,gnomAD
CPLANE2	Q9BU20	p.Val66Met	rs374649018	missense variant	-	NC_000001.11:g.16233681C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly67Val	rs1051751058	missense variant	-	NC_000001.11:g.16233677C>A	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Thr69Met	rs747250057	missense variant	-	NC_000001.11:g.16233671G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ala70Val	rs370908519	missense variant	-	NC_000001.11:g.16233668G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ala70Val	rs370908519	missense variant	-	NC_000001.11:g.16233668G>A	NCI-TCGA,NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Leu71Met	COSM898933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233666G>T	NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Lys74Arg	rs149219920	missense variant	-	NC_000001.11:g.16233656T>C	ESP,ExAC,gnomAD
CPLANE2	Q9BU20	p.Lys74Thr	rs149219920	missense variant	-	NC_000001.11:g.16233656T>G	ESP,ExAC,gnomAD
CPLANE2	Q9BU20	p.Leu75Val	rs749859517	missense variant	-	NC_000001.11:g.16233654G>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Pro81Ala	rs1450586458	missense variant	-	NC_000001.11:g.16233636G>C	gnomAD
CPLANE2	Q9BU20	p.Val82Ala	rs1405542226	missense variant	-	NC_000001.11:g.16233632A>G	gnomAD
CPLANE2	Q9BU20	p.Val83Met	rs763969921	missense variant	-	NC_000001.11:g.16233630C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.His84Tyr	rs762708193	missense variant	-	NC_000001.11:g.16233627G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.His85Gln	rs775467926	missense variant	-	NC_000001.11:g.16233622G>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Glu86Gly	rs17849687	missense variant	-	NC_000001.11:g.16233620T>C	-
CPLANE2	Q9BU20	p.Glu86Gly	rs17849687	missense variant	-	NC_000001.11:g.16233620T>C	UniProt,dbSNP
CPLANE2	Q9BU20	p.Glu86Gly	VAR_031772	missense variant	-	NC_000001.11:g.16233620T>C	UniProt
CPLANE2	Q9BU20	p.Glu86Lys	rs202215328	missense variant	-	NC_000001.11:g.16233621C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Thr88Ile	COSM3477646	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233614G>A	NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Gly89Ser	rs776638434	missense variant	-	NC_000001.11:g.16233612C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ile90Phe	rs747137801	missense variant	-	NC_000001.11:g.16233015T>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ile90Thr	rs926975093	missense variant	-	NC_000001.11:g.16233014A>G	gnomAD
CPLANE2	Q9BU20	p.Thr93Ile	COSM3477645	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233005G>A	NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Thr93Ala	rs773389435	missense variant	-	NC_000001.11:g.16233006T>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Val94Met	rs941769347	missense variant	-	NC_000001.11:g.16233003C>T	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Lys100Asn	COSM1335938	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16232983C>A	NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Leu101Val	rs1301826860	missense variant	-	NC_000001.11:g.16232982G>C	gnomAD
CPLANE2	Q9BU20	p.Ala103Val	rs1404922058	missense variant	-	NC_000001.11:g.16232975G>A	gnomAD
CPLANE2	Q9BU20	p.Ser104Thr	rs748423518	missense variant	-	NC_000001.11:g.16232972C>G	ExAC,gnomAD
CPLANE2	Q9BU20	p.Ser105Gly	rs779088609	missense variant	-	NC_000001.11:g.16232970T>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Arg106His	rs115950321	missense variant	-	NC_000001.11:g.16232966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg106Cys	rs376416667	missense variant	-	NC_000001.11:g.16232967G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Val107Ile	rs919008628	missense variant	-	NC_000001.11:g.16232964C>T	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Val107Ala	rs200122419	missense variant	-	NC_000001.11:g.16232963A>G	1000Genomes,ExAC,gnomAD
CPLANE2	Q9BU20	p.Val108Ile	rs536419247	missense variant	-	NC_000001.11:g.16232961C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Val108Phe	rs536419247	missense variant	-	NC_000001.11:g.16232961C>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Met109Leu	rs941874378	missense variant	-	NC_000001.11:g.16232958T>A	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Met109Val	rs941874378	missense variant	-	NC_000001.11:g.16232958T>C	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Met109Lys	rs777448995	missense variant	-	NC_000001.11:g.16232957A>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Phe110Leu	rs1206903027	missense variant	-	NC_000001.11:g.16232955A>G	gnomAD
CPLANE2	Q9BU20	p.Arg111Cys	rs141168630	missense variant	-	NC_000001.11:g.16232952G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg111His	rs1260350602	missense variant	-	NC_000001.11:g.16232951C>T	gnomAD
CPLANE2	Q9BU20	p.Phe114Leu	rs752402317	missense variant	-	NC_000001.11:g.16232941G>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Trp115Ter	rs764939463	stop gained	-	NC_000001.11:g.16232938C>T	ExAC
CPLANE2	Q9BU20	p.Gly118Glu	rs759436560	missense variant	-	NC_000001.11:g.16232930C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Gly118Ter	rs1281827216	stop gained	-	NC_000001.11:g.16232931C>A	gnomAD
CPLANE2	Q9BU20	p.Glu119Gly	rs1383404122	missense variant	-	NC_000001.11:g.16232927T>C	gnomAD
CPLANE2	Q9BU20	p.Glu119Lys	rs766341204	missense variant	-	NC_000001.11:g.16232928C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Glu119Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.16232928C>G	NCI-TCGA
CPLANE2	Q9BU20	p.Ser120Phe	COSM6122403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16232924G>A	NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Lys124Gln	rs760633192	missense variant	-	NC_000001.11:g.16232913T>G	ExAC,gnomAD
CPLANE2	Q9BU20	p.Asp126Glu	rs1407874851	missense variant	-	NC_000001.11:g.16232905A>T	gnomAD
CPLANE2	Q9BU20	p.Asp126Tyr	rs761874778	missense variant	-	NC_000001.11:g.16232907C>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Asp126Asn	rs761874778	missense variant	-	NC_000001.11:g.16232907C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Met128Ile	rs1404994647	missense variant	-	NC_000001.11:g.16232899C>T	TOPMed
CPLANE2	Q9BU20	p.Ala131Val	rs746374981	missense variant	-	NC_000001.11:g.16232645G>A	ExAC,gnomAD
CPLANE2	Q9BU20	p.Cys132Phe	rs200973333	missense variant	-	NC_000001.11:g.16232642C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Cys132Ser	rs200973333	missense variant	-	NC_000001.11:g.16232642C>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Met133Ile	rs542142896	missense variant	-	NC_000001.11:g.16232638C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Met133Val	rs1485996864	missense variant	-	NC_000001.11:g.16232640T>C	TOPMed
CPLANE2	Q9BU20	p.Asn135Ser	rs747730146	missense variant	-	NC_000001.11:g.16232633T>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Thr136Ile	rs376490389	missense variant	-	NC_000001.11:g.16232630G>A	ESP,ExAC,gnomAD
CPLANE2	Q9BU20	p.Ala138Asp	rs372882841	missense variant	-	NC_000001.11:g.16232624G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ala138Thr	rs754573027	missense variant	-	NC_000001.11:g.16232625C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ala138Val	rs372882841	missense variant	-	NC_000001.11:g.16232624G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Leu140Pro	rs1369814139	missense variant	-	NC_000001.11:g.16232618A>G	gnomAD
CPLANE2	Q9BU20	p.Leu140Phe	rs139279526	missense variant	-	NC_000001.11:g.16232619G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Phe141Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.16232616A>G	NCI-TCGA
CPLANE2	Q9BU20	p.Phe141Leu	rs369510689	missense variant	-	NC_000001.11:g.16232614G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ser144Ala	rs750314535	missense variant	-	NC_000001.11:g.16232607A>C	ExAC,TOPMed
CPLANE2	Q9BU20	p.Ser144Phe	rs767538456	missense variant	-	NC_000001.11:g.16232606G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ser144Pro	rs750314535	missense variant	-	NC_000001.11:g.16232607A>G	ExAC,TOPMed
CPLANE2	Q9BU20	p.Arg148Cys	rs375956373	missense variant	-	NC_000001.11:g.16232595G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg148His	rs751609370	missense variant	-	NC_000001.11:g.16232594C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg148Gly	rs375956373	missense variant	-	NC_000001.11:g.16232595G>C	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg148Ser	rs375956373	missense variant	-	NC_000001.11:g.16232595G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ala149Val	rs1470607617	missense variant	-	NC_000001.11:g.16232591G>A	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Leu154Ile	rs1482940166	missense variant	-	NC_000001.11:g.16232577G>T	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Leu154Arg	rs1270215233	missense variant	-	NC_000001.11:g.16232576A>C	gnomAD
CPLANE2	Q9BU20	p.Gln157Glu	rs1171564864	missense variant	-	NC_000001.11:g.16232568G>C	TOPMed
CPLANE2	Q9BU20	p.Arg160Gly	rs760031358	missense variant	-	NC_000001.11:g.16232559G>C	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg160His	rs142028968	missense variant	-	NC_000001.11:g.16232558C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg160Cys	rs760031358	missense variant	-	NC_000001.11:g.16232559G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ile161Met	rs1280928963	missense variant	-	NC_000001.11:g.16232554T>C	gnomAD
CPLANE2	Q9BU20	p.Ile161Leu	VAR_079173	Missense	-	-	UniProt
CPLANE2	Q9BU20	p.Gly163Val	rs149140682	missense variant	-	NC_000001.11:g.16232549C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly163Ser	rs771425497	missense variant	-	NC_000001.11:g.16232550C>T	ExAC
CPLANE2	Q9BU20	p.Pro166Ser	rs773850912	missense variant	-	NC_000001.11:g.16232541G>A	ExAC,gnomAD
CPLANE2	Q9BU20	p.Pro166Leu	rs1269013003	missense variant	-	NC_000001.11:g.16232540G>A	TOPMed
CPLANE2	Q9BU20	p.Gly167Asp	rs949219760	missense variant	-	NC_000001.11:g.16232537C>T	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly167Arg	rs1224565400	missense variant	-	NC_000001.11:g.16232538C>G	TOPMed
CPLANE2	Q9BU20	p.Val168Ile	rs1406752292	missense variant	-	NC_000001.11:g.16232535C>T	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Val169Ile	rs148173357	missense variant	-	NC_000001.11:g.16232532C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Met171Ile	rs1418876777	missense variant	-	NC_000001.11:g.16232524C>T	gnomAD
CPLANE2	Q9BU20	p.Met171Leu	rs762123455	missense variant	-	NC_000001.11:g.16232526T>A	ExAC,TOPMed
CPLANE2	Q9BU20	p.Met171Val	rs762123455	missense variant	-	NC_000001.11:g.16232526T>C	ExAC,TOPMed
CPLANE2	Q9BU20	p.Met171Thr	rs779738771	missense variant	-	NC_000001.11:g.16232525A>G	ExAC,gnomAD
CPLANE2	Q9BU20	p.Val172Phe	rs573262072	missense variant	-	NC_000001.11:g.16232523C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ile173Asn	rs745637276	missense variant	-	NC_000001.11:g.16232519A>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly174Arg	rs553404746	missense variant	-	NC_000001.11:g.16232517C>G	1000Genomes,ExAC,gnomAD
CPLANE2	Q9BU20	p.Gly174Asp	rs1157241059	missense variant	-	NC_000001.11:g.16232516C>T	gnomAD
CPLANE2	Q9BU20	p.Gly174Ser	rs553404746	missense variant	-	NC_000001.11:g.16232517C>T	1000Genomes,ExAC,gnomAD
CPLANE2	Q9BU20	p.Ser175Phe	COSM3477642	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16232513G>A	NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Lys176Thr	rs751458178	missense variant	-	NC_000001.11:g.16232510T>G	ExAC,gnomAD
CPLANE2	Q9BU20	p.Lys176Arg	rs751458178	missense variant	-	NC_000001.11:g.16232510T>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Phe177Leu	rs1335826829	missense variant	-	NC_000001.11:g.16232296A>G	TOPMed
CPLANE2	Q9BU20	p.Asp178Val	rs746956288	missense variant	-	NC_000001.11:g.16232292T>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Asp178Glu	rs1310277877	missense variant	-	NC_000001.11:g.16232291G>T	gnomAD
CPLANE2	Q9BU20	p.Asp178Asn	rs770699640	missense variant	-	NC_000001.11:g.16232293C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Gln179Ter	rs777909226	stop gained	-	NC_000001.11:g.16232290G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Met181Thr	rs887390065	missense variant	-	NC_000001.11:g.16232283A>G	TOPMed
CPLANE2	Q9BU20	p.His182Gln	rs752787610	missense variant	-	NC_000001.11:g.16232279G>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Thr183Met	rs779152901	missense variant	-	NC_000001.11:g.16232277G>A	ExAC,gnomAD
CPLANE2	Q9BU20	p.Asp184Asn	rs754009061	missense variant	-	NC_000001.11:g.16232275C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Asp184Ala	rs546637297	missense variant	-	NC_000001.11:g.16232274T>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Val185Met	rs750905072	missense variant	-	NC_000001.11:g.16232272C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Pro186Ser	rs1043408722	missense variant	-	NC_000001.11:g.16232269G>A	TOPMed
CPLANE2	Q9BU20	p.Glu187Gln	rs774923410	missense variant	-	NC_000001.11:g.16232266C>G	ExAC,gnomAD
CPLANE2	Q9BU20	p.Glu187Lys	rs774923410	missense variant	-	NC_000001.11:g.16232266C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Arg188Trp	rs571056693	missense variant	-	NC_000001.11:g.16232263G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg188Gln	rs201038756	missense variant	-	NC_000001.11:g.16232262C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Asp189Glu	rs776207112	missense variant	-	NC_000001.11:g.16232258G>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Leu190Phe	rs770740602	missense variant	-	NC_000001.11:g.16232257G>A	ExAC,gnomAD
CPLANE2	Q9BU20	p.Thr191Ile	rs141788938	missense variant	-	NC_000001.11:g.16232253G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg194Trp	rs1043614471	missense variant	-	NC_000001.11:g.16232245G>A	gnomAD
CPLANE2	Q9BU20	p.Arg194Gln	rs772082264	missense variant	-	NC_000001.11:g.16232244C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Trp197Cys	rs146969788	missense variant	-	NC_000001.11:g.16232234C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Trp197Ter	rs146969788	stop gained	-	NC_000001.11:g.16232234C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Trp197Arg	rs946600473	missense variant	-	NC_000001.11:g.16232236A>G	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Glu198Ter	rs779066950	stop gained	-	NC_000001.11:g.16232233C>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Pro200Ser	rs1358510414	missense variant	-	NC_000001.11:g.16232227G>A	TOPMed
CPLANE2	Q9BU20	p.Leu201Pro	rs972334462	missense variant	-	NC_000001.11:g.16232223A>G	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Leu201CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.16232224G>-	NCI-TCGA
CPLANE2	Q9BU20	p.Arg203Gln	rs576683687	missense variant	-	NC_000001.11:g.16232217C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg203Trp	rs531243130	missense variant	-	NC_000001.11:g.16232218G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Val204Met	rs756469699	missense variant	-	NC_000001.11:g.16232215C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Ser206Asn	rs909485740	missense variant	-	NC_000001.11:g.16232208C>T	TOPMed
CPLANE2	Q9BU20	p.Val207Met	rs541881333	missense variant	-	NC_000001.11:g.16232206C>T	1000Genomes,ExAC
CPLANE2	Q9BU20	p.Pro208Leu	rs140675814	missense variant	-	NC_000001.11:g.16232202G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg210Gln	rs759019748	missense variant	-	NC_000001.11:g.16232196C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg210Trp	rs764792598	missense variant	-	NC_000001.11:g.16232197G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg211Gln	rs776318544	missense variant	-	NC_000001.11:g.16232193C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg211Trp	rs1249511161	missense variant	-	NC_000001.11:g.16232194G>A	gnomAD
CPLANE2	Q9BU20	p.Ala213Ser	rs1490528199	missense variant	-	NC_000001.11:g.16232188C>A	gnomAD
CPLANE2	Q9BU20	p.Asp214Gly	rs1242742955	missense variant	-	NC_000001.11:g.16232184T>C	gnomAD
CPLANE2	Q9BU20	p.Arg216His	rs773080454	missense variant	-	NC_000001.11:g.16232178C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Arg216Cys	rs760429966	missense variant	-	NC_000001.11:g.16232179G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg216Ser	rs760429966	missense variant	-	NC_000001.11:g.16232179G>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Leu218Met	rs1225821766	missense variant	-	NC_000001.11:g.16232173G>T	gnomAD
CPLANE2	Q9BU20	p.Asp219Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.16232169T>C	NCI-TCGA
CPLANE2	Q9BU20	p.Gly220Glu	rs201650925	missense variant	-	NC_000001.11:g.16232166C>T	ExAC,gnomAD
CPLANE2	Q9BU20	p.Gly220Ala	rs201650925	missense variant	-	NC_000001.11:g.16232166C>G	ExAC,gnomAD
CPLANE2	Q9BU20	p.Gly220Arg	rs371291409	missense variant	-	NC_000001.11:g.16232167C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gly220Trp	rs371291409	missense variant	-	NC_000001.11:g.16232167C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg221Trp	rs373665028	missense variant	-	NC_000001.11:g.16232164G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg221Gly	rs373665028	missense variant	-	NC_000001.11:g.16232164G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Arg221Gln	rs998454690	missense variant	-	NC_000001.11:g.16232163C>T	TOPMed
CPLANE2	Q9BU20	p.Ala222Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.16232161C>A	NCI-TCGA
CPLANE2	Q9BU20	p.Ala225Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.16232151G>A	NCI-TCGA
CPLANE2	Q9BU20	p.Asp226Asn	rs746095494	missense variant	-	NC_000001.11:g.16232149C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Asp226His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.16232149C>G	NCI-TCGA
CPLANE2	Q9BU20	p.Val227Ile	rs143336938	missense variant	-	NC_000001.11:g.16232146C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ala228Thr	rs752042722	missense variant	-	NC_000001.11:g.16232143C>T	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ala228Ser	rs752042722	missense variant	-	NC_000001.11:g.16232143C>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ile230Leu	rs1270967145	missense variant	-	NC_000001.11:g.16232137T>A	gnomAD
CPLANE2	Q9BU20	p.Leu231Ile	rs371406947	missense variant	-	NC_000001.11:g.16232134G>T	ESP,ExAC,gnomAD
CPLANE2	Q9BU20	p.Asn232Ile	rs753243492	missense variant	-	NC_000001.11:g.16232130T>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Asn232Ser	rs753243492	missense variant	-	NC_000001.11:g.16232130T>C	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Glu236Gly	rs557518995	missense variant	-	NC_000001.11:g.16232118T>C	1000Genomes,ExAC,gnomAD
CPLANE2	Q9BU20	p.Gln237Ter	rs1476978995	stop gained	-	NC_000001.11:g.16232116G>A	TOPMed
CPLANE2	Q9BU20	p.His240Tyr	rs760333794	missense variant	-	NC_000001.11:g.16232107G>A	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Gln243Ter	rs368888277	stop gained	-	NC_000001.11:g.16232098G>A	ESP,ExAC,gnomAD
CPLANE2	Q9BU20	p.Gln243Glu	rs368888277	missense variant	-	NC_000001.11:g.16232098G>C	ESP,ExAC,gnomAD
CPLANE2	Q9BU20	p.Val244Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.16232094A>C	NCI-TCGA
CPLANE2	Q9BU20	p.Ala245Val	rs1200243112	missense variant	-	NC_000001.11:g.16232091G>A	TOPMed
CPLANE2	Q9BU20	p.Ala246Ser	rs1224538818	missense variant	-	NC_000001.11:g.16232089C>A	gnomAD
CPLANE2	Q9BU20	p.Leu249Phe	rs768436972	missense variant	-	NC_000001.11:g.16232080G>A	ExAC,gnomAD
CPLANE2	Q9BU20	p.Asn251Ser	rs749270176	missense variant	-	NC_000001.11:g.16232073T>C	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Pro252Ala	rs1438708955	missense variant	-	NC_000001.11:g.16232071G>C	TOPMed
CPLANE2	Q9BU20	p.Pro253GlnPheSerTerUnkUnk	COSM2088980	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.16232067G>-	NCI-TCGA Cosmic
CPLANE2	Q9BU20	p.Pro253Ser	rs1402610096	missense variant	-	NC_000001.11:g.16232068G>A	gnomAD
CPLANE2	Q9BU20	p.Pro253Arg	rs371168864	missense variant	-	NC_000001.11:g.16232067G>C	1000Genomes,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Glu254Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.16232065C>G	NCI-TCGA
CPLANE2	Q9BU20	p.Glu254Asp	rs1477817917	missense variant	-	NC_000001.11:g.16232063C>A	gnomAD
CPLANE2	Q9BU20	p.Glu254Lys	rs1289066461	missense variant	-	NC_000001.11:g.16232065C>T	gnomAD
CPLANE2	Q9BU20	p.Ser255Gly	rs923387634	missense variant	-	NC_000001.11:g.16232062T>C	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ser255Thr	rs775366241	missense variant	-	NC_000001.11:g.16232061C>G	ExAC,TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ser255Cys	rs923387634	missense variant	-	NC_000001.11:g.16232062T>A	TOPMed,gnomAD
CPLANE2	Q9BU20	p.Ala256Thr	rs1158059389	missense variant	-	NC_000001.11:g.16232059C>T	gnomAD
CPLANE2	Q9BU20	p.Pro257Ala	rs769928556	missense variant	-	NC_000001.11:g.16232056G>C	ExAC,gnomAD
CPLANE2	Q9BU20	p.Ter259Trp	rs746078776	stop lost	-	NC_000001.11:g.16232048T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Met1Val	RCV000484413	missense variant	-	NC_000017.11:g.61861539T>C	ClinVar
BRIP1	Q9BX63	p.Met1Leu	RCV000581042	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861539T>G	ClinVar
BRIP1	Q9BX63	p.Met1Leu	RCV000571784	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861539T>A	ClinVar
BRIP1	Q9BX63	p.Met1Val	RCV000410570	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61861539T>C	ClinVar
BRIP1	Q9BX63	p.Met1Leu	RCV000536251	missense variant	Familial cancer of breast	NC_000017.11:g.61861539T>A	ClinVar
BRIP1	Q9BX63	p.Met1Val	RCV000167101	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861539T>C	ClinVar
BRIP1	Q9BX63	p.Met1Val	RCV000474167	missense variant	Familial cancer of breast	NC_000017.11:g.61861539T>C	ClinVar
BRIP1	Q9BX63	p.Met1Val	RCV000411221	missense variant	Neoplasm of ovary	NC_000017.11:g.61861539T>C	ClinVar
BRIP1	Q9BX63	p.Met1Ter	RCV000221782	frameshift	-	NC_000017.11:g.61861539_61861540del	ClinVar
BRIP1	Q9BX63	p.Met1Ter	RCV000230644	frameshift	Familial cancer of breast	NC_000017.11:g.61861539_61861540del	ClinVar
BRIP1	Q9BX63	p.Ser2Phe	RCV000562127	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861535G>A	ClinVar
BRIP1	Q9BX63	p.Ser2Phe	rs751194347	missense variant	-	NC_000017.11:g.61861535G>A	-
BRIP1	Q9BX63	p.Met4Leu	RCV000774961	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861530T>A	ClinVar
BRIP1	Q9BX63	p.Met4Val	RCV000467101	missense variant	Familial cancer of breast	NC_000017.11:g.61861530T>C	ClinVar
BRIP1	Q9BX63	p.Met4Ile	rs1386396228	missense variant	-	NC_000017.11:g.61861528C>T	gnomAD
BRIP1	Q9BX63	p.Met4Leu	rs45512093	missense variant	-	NC_000017.11:g.61861530T>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Met4Val	rs45512093	missense variant	-	NC_000017.11:g.61861530T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Met4Ile	RCV000636072	missense variant	Familial cancer of breast	NC_000017.11:g.61861528C>T	ClinVar
BRIP1	Q9BX63	p.Trp5Ter	RCV000583347	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861526C>T	ClinVar
BRIP1	Q9BX63	p.Trp5Ter	rs1555618738	stop gained	-	NC_000017.11:g.61861526C>T	-
BRIP1	Q9BX63	p.Glu7Gln	rs1246321339	missense variant	-	NC_000017.11:g.61861521C>G	TOPMed
BRIP1	Q9BX63	p.Tyr8Ter	RCV000216493	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861516A>T	ClinVar
BRIP1	Q9BX63	p.Tyr8Ter	rs752411477	stop gained	-	NC_000017.11:g.61861516A>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile10Ter	RCV000709568	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61861511del	ClinVar
BRIP1	Q9BX63	p.Ile10Thr	RCV000166716	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861511A>G	ClinVar
BRIP1	Q9BX63	p.Ile10Thr	rs786203418	missense variant	-	NC_000017.11:g.61861511A>G	TOPMed
BRIP1	Q9BX63	p.Gly12Glu	rs1555618733	missense variant	-	NC_000017.11:g.61861505C>T	-
BRIP1	Q9BX63	p.Gly12Glu	RCV000568790	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861505C>T	ClinVar
BRIP1	Q9BX63	p.Val13Ala	RCV000506482	missense variant	-	NC_000017.11:g.61861502A>G	ClinVar
BRIP1	Q9BX63	p.Val13Ala	rs1555618729	missense variant	-	NC_000017.11:g.61861502A>G	-
BRIP1	Q9BX63	p.Val13Met	rs1488264110	missense variant	-	NC_000017.11:g.61861503C>T	gnomAD
BRIP1	Q9BX63	p.Lys14Ter	rs1555618727	stop gained	-	NC_000017.11:g.61861500T>A	-
BRIP1	Q9BX63	p.Lys14Ter	RCV000576446	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61861500T>A	ClinVar
BRIP1	Q9BX63	p.Ile15Val	RCV000698912	missense variant	Familial cancer of breast	NC_000017.11:g.61861497T>C	ClinVar
BRIP1	Q9BX63	p.Tyr16Cys	RCV000129220	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861493T>C	ClinVar
BRIP1	Q9BX63	p.Tyr16Cys	rs587781387	missense variant	-	NC_000017.11:g.61861493T>C	-
BRIP1	Q9BX63	p.Pro18Leu	rs1415589484	missense variant	-	NC_000017.11:g.61861487G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro18Ser	rs1555618724	missense variant	-	NC_000017.11:g.61861488G>A	-
BRIP1	Q9BX63	p.Pro18Ser	RCV000564557	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861488G>A	ClinVar
BRIP1	Q9BX63	p.Pro18Ser	RCV000542420	missense variant	Familial cancer of breast	NC_000017.11:g.61861488G>A	ClinVar
BRIP1	Q9BX63	p.Tyr19Ter	RCV000696136	frameshift	Familial cancer of breast	NC_000017.11:g.61861486dup	ClinVar
BRIP1	Q9BX63	p.Tyr19Cys	RCV000217783	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861484T>C	ClinVar
BRIP1	Q9BX63	p.Tyr19Cys	rs876660880	missense variant	-	NC_000017.11:g.61861484T>C	gnomAD
BRIP1	Q9BX63	p.Tyr19Ter	rs876659588	stop gained	-	NC_000017.11:g.61861483A>T	gnomAD
BRIP1	Q9BX63	p.Tyr22Ter	rs1406859817	stop gained	-	NC_000017.11:g.61861475dup	TOPMed
BRIP1	Q9BX63	p.Tyr22Asn	RCV000218322	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861476A>T	ClinVar
BRIP1	Q9BX63	p.Tyr22Cys	RCV000772477	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861475T>C	ClinVar
BRIP1	Q9BX63	p.Tyr22Asn	rs876659008	missense variant	-	NC_000017.11:g.61861476A>T	TOPMed
BRIP1	Q9BX63	p.Pro23Leu	rs1292425366	missense variant	-	NC_000017.11:g.61861472G>A	gnomAD
BRIP1	Q9BX63	p.Ser24Leu	RCV000694240	missense variant	Familial cancer of breast	NC_000017.11:g.61861469G>A	ClinVar
BRIP1	Q9BX63	p.Gln25Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61861467G>A	NCI-TCGA
BRIP1	Q9BX63	p.Ala27Ser	rs1555618704	missense variant	-	NC_000017.11:g.61861461C>A	-
BRIP1	Q9BX63	p.Ala27Ter	RCV000663215	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61861463dup	ClinVar
BRIP1	Q9BX63	p.Ala27Ter	RCV000772710	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861463dup	ClinVar
BRIP1	Q9BX63	p.Ala27Ser	RCV000566279	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861461C>A	ClinVar
BRIP1	Q9BX63	p.Met28Val	rs1330147176	missense variant	-	NC_000017.11:g.61861458T>C	TOPMed
BRIP1	Q9BX63	p.Met28Lys	rs786202674	missense variant	-	NC_000017.11:g.61861457A>T	-
BRIP1	Q9BX63	p.Met28Val	RCV000801846	missense variant	Familial cancer of breast	NC_000017.11:g.61861458T>C	ClinVar
BRIP1	Q9BX63	p.Met28Lys	RCV000165601	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861457A>T	ClinVar
BRIP1	Q9BX63	p.Met28Leu	rs1330147176	missense variant	-	NC_000017.11:g.61861458T>A	TOPMed
BRIP1	Q9BX63	p.Met28Leu	RCV000636122	missense variant	Familial cancer of breast	NC_000017.11:g.61861458T>A	ClinVar
BRIP1	Q9BX63	p.Met28Leu	RCV000561978	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861458T>A	ClinVar
BRIP1	Q9BX63	p.Met28Val	RCV000570506	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861458T>C	ClinVar
BRIP1	Q9BX63	p.Met29Ile	RCV000691171	missense variant	Familial cancer of breast	NC_000017.11:g.61861453C>A	ClinVar
BRIP1	Q9BX63	p.Met29Ile	RCV000570903	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861453C>A	ClinVar
BRIP1	Q9BX63	p.Met29Ile	RCV000570164	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61861453C>T	ClinVar
BRIP1	Q9BX63	p.Met29Ile	rs769585673	missense variant	-	NC_000017.11:g.61861453C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Met29Ile	rs769585673	missense variant	-	NC_000017.11:g.61861453C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Asn30Asp	rs747867580	missense variant	-	NC_000017.11:g.61861452T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile32Phe	rs776386693	missense variant	-	NC_000017.11:g.61859907T>A	ExAC
BRIP1	Q9BX63	p.Ile32Val	RCV000580127	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859907T>C	ClinVar
BRIP1	Q9BX63	p.Ile32Val	rs776386693	missense variant	-	NC_000017.11:g.61859907T>C	ExAC
BRIP1	Q9BX63	p.Leu33Phe	RCV000562728	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859904G>A	ClinVar
BRIP1	Q9BX63	p.Leu33Phe	rs772319724	missense variant	-	NC_000017.11:g.61859904G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg34Thr	RCV000163702	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859900C>G	ClinVar
BRIP1	Q9BX63	p.Arg34Thr	rs786201468	missense variant	-	NC_000017.11:g.61859900C>G	-
BRIP1	Q9BX63	p.Gly35Val	rs876659168	missense variant	-	NC_000017.11:g.61859897C>A	gnomAD
BRIP1	Q9BX63	p.Gly35Val	RCV000780049	missense variant	-	NC_000017.11:g.61859897C>A	ClinVar
BRIP1	Q9BX63	p.Gly35Ala	RCV000217605	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859897C>G	ClinVar
BRIP1	Q9BX63	p.Gly35Ter	RCV000636074	nonsense	Familial cancer of breast	NC_000017.11:g.61859898C>A	ClinVar
BRIP1	Q9BX63	p.Gly35Ala	rs876659168	missense variant	-	NC_000017.11:g.61859897C>G	gnomAD
BRIP1	Q9BX63	p.Gly35Arg	rs373104267	missense variant	-	NC_000017.11:g.61859898C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly35Ter	rs373104267	stop gained	-	NC_000017.11:g.61859898C>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu36Phe	RCV000636168	missense variant	Familial cancer of breast	NC_000017.11:g.61859893T>G	ClinVar
BRIP1	Q9BX63	p.Leu36Ser	rs1060501767	missense variant	-	NC_000017.11:g.61859894A>G	-
BRIP1	Q9BX63	p.Leu36Phe	RCV000215935	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859893T>G	ClinVar
BRIP1	Q9BX63	p.Leu36Phe	rs774586397	missense variant	-	NC_000017.11:g.61859893T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu36Ser	RCV000460801	missense variant	Familial cancer of breast	NC_000017.11:g.61859894A>G	ClinVar
BRIP1	Q9BX63	p.Asn37Ser	RCV000222467	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859891T>C	ClinVar
BRIP1	Q9BX63	p.Asn37Ser	RCV000764136	missense variant	Familial cancer of breast	NC_000017.11:g.61859891T>C	ClinVar
BRIP1	Q9BX63	p.Asn37Asp	rs1256465650	missense variant	-	NC_000017.11:g.61859892T>C	TOPMed
BRIP1	Q9BX63	p.Asn37Ser	rs876659105	missense variant	-	NC_000017.11:g.61859891T>C	gnomAD
BRIP1	Q9BX63	p.Ser38Asn	RCV000572926	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859888C>T	ClinVar
BRIP1	Q9BX63	p.Ser38Asn	RCV000636102	missense variant	Familial cancer of breast	NC_000017.11:g.61859888C>T	ClinVar
BRIP1	Q9BX63	p.Ser38Asn	rs1555618429	missense variant	-	NC_000017.11:g.61859888C>T	-
BRIP1	Q9BX63	p.Ser38Ile	COSM6081870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61859888C>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Lys39Thr	rs1555618428	missense variant	-	NC_000017.11:g.61859885T>G	-
BRIP1	Q9BX63	p.Lys39Thr	RCV000569770	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859885T>G	ClinVar
BRIP1	Q9BX63	p.His41Tyr	RCV000773114	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859880G>A	ClinVar
BRIP1	Q9BX63	p.His41Tyr	rs770930270	missense variant	-	NC_000017.11:g.61859880G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.His41Arg	rs1253714284	missense variant	-	NC_000017.11:g.61859879T>C	gnomAD
BRIP1	Q9BX63	p.Cys42Tyr	RCV000561259	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859876C>T	ClinVar
BRIP1	Q9BX63	p.Cys42Arg	RCV000691506	missense variant	Familial cancer of breast	NC_000017.11:g.61859877A>G	ClinVar
BRIP1	Q9BX63	p.Cys42Tyr	rs1555618423	missense variant	-	NC_000017.11:g.61859876C>T	-
BRIP1	Q9BX63	p.Cys42Phe	RCV000704979	missense variant	Familial cancer of breast	NC_000017.11:g.61859876C>A	ClinVar
BRIP1	Q9BX63	p.Glu45Ter	rs587781292	stop gained	-	NC_000017.11:g.61859868C>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu45Lys	rs587781292	missense variant	-	NC_000017.11:g.61859868C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu45Lys	RCV000686973	missense variant	Familial cancer of breast	NC_000017.11:g.61859868C>T	ClinVar
BRIP1	Q9BX63	p.Glu45Ter	RCV000482088	nonsense	-	NC_000017.11:g.61859868C>A	ClinVar
BRIP1	Q9BX63	p.Glu45Ter	RCV000662599	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61859868C>A	ClinVar
BRIP1	Q9BX63	p.Glu45Lys	RCV000222594	missense variant	-	NC_000017.11:g.61859868C>T	ClinVar
BRIP1	Q9BX63	p.Glu45Lys	RCV000582447	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859868C>T	ClinVar
BRIP1	Q9BX63	p.Glu45Ter	RCV000128992	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859868C>A	ClinVar
BRIP1	Q9BX63	p.Glu45Ter	RCV000196974	nonsense	Familial cancer of breast	NC_000017.11:g.61859868C>A	ClinVar
BRIP1	Q9BX63	p.Ser46Asn	RCV000703709	missense variant	Familial cancer of breast	NC_000017.11:g.61859864C>T	ClinVar
BRIP1	Q9BX63	p.Ser46Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61859865T>C	NCI-TCGA
BRIP1	Q9BX63	p.Pro47Ala	RCV000587908	missense variant	-	NC_000017.11:g.61859862G>C	ClinVar
BRIP1	Q9BX63	p.Pro47Ala	RCV000410864	missense variant	Neoplasm of ovary	NC_000017.11:g.61859862G>C	ClinVar
BRIP1	Q9BX63	p.Pro47Ala	RCV000005002	missense variant	Breast cancer, early-onset	NC_000017.11:g.61859862G>C	ClinVar
BRIP1	Q9BX63	p.Pro47Thr	rs28903098	missense variant	-	NC_000017.11:g.61859862G>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro47Thr	RCV000216538	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859862G>T	ClinVar
BRIP1	Q9BX63	p.Pro47Ala	RCV000200979	missense variant	-	NC_000017.11:g.61859862G>C	ClinVar
BRIP1	Q9BX63	p.Pro47Ala	RCV000778130	missense variant	BRIP1-Related Disorders	NC_000017.11:g.61859862G>C	ClinVar
BRIP1	Q9BX63	p.Pro47Ala	RCV000199377	missense variant	Familial cancer of breast	NC_000017.11:g.61859862G>C	ClinVar
BRIP1	Q9BX63	p.Pro47Ala	RCV000409748	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61859862G>C	ClinVar
BRIP1	Q9BX63	p.Pro47Ala	rs28903098	missense variant	-	NC_000017.11:g.61859862G>C	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro47Ala	rs28903098	missense variant	Breast cancer (BC)	NC_000017.11:g.61859862G>C	UniProt,dbSNP
BRIP1	Q9BX63	p.Pro47Ala	VAR_020896	missense variant	Breast cancer (BC)	NC_000017.11:g.61859862G>C	UniProt
BRIP1	Q9BX63	p.Pro47Thr	RCV000160330	missense variant	-	NC_000017.11:g.61859862G>T	ClinVar
BRIP1	Q9BX63	p.Pro47Leu	COSM3890100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61859861G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Thr48Lys	RCV000698138	missense variant	Familial cancer of breast	NC_000017.11:g.61859858G>T	ClinVar
BRIP1	Q9BX63	p.Thr48Lys	RCV000584278	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859858G>T	ClinVar
BRIP1	Q9BX63	p.Thr48Lys	RCV000216242	missense variant	-	NC_000017.11:g.61859858G>T	ClinVar
BRIP1	Q9BX63	p.Thr48Lys	rs755317452	missense variant	-	NC_000017.11:g.61859858G>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr48Ter	RCV000130549	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859862del	ClinVar
BRIP1	Q9BX63	p.Thr48Ter	RCV000536840	frameshift	Familial cancer of breast	NC_000017.11:g.61859862del	ClinVar
BRIP1	Q9BX63	p.Thr48Ter	RCV000657235	frameshift	-	NC_000017.11:g.61859862del	ClinVar
BRIP1	Q9BX63	p.Gly49Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61859856C>A	NCI-TCGA
BRIP1	Q9BX63	p.Ser50Asn	RCV000487123	missense variant	-	NC_000017.11:g.61859852C>T	ClinVar
BRIP1	Q9BX63	p.Ser50Asn	rs1064793071	missense variant	-	NC_000017.11:g.61859852C>T	-
BRIP1	Q9BX63	p.Ser53Ile	rs751182362	missense variant	-	NC_000017.11:g.61859843C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser53Ile	rs786202417	missense variant	-	NC_000017.11:g.61859842_61859843delinsAA	-
BRIP1	Q9BX63	p.Ser53Ile	RCV000459006	missense variant	Familial cancer of breast	NC_000017.11:g.61859842_61859843delinsAA	ClinVar
BRIP1	Q9BX63	p.Ser53Ile	RCV000165219	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859842_61859843delinsAA	ClinVar
BRIP1	Q9BX63	p.Leu54Val	rs1461022839	missense variant	-	NC_000017.11:g.61859841A>C	TOPMed
BRIP1	Q9BX63	p.Ala55Thr	rs757909937	missense variant	-	NC_000017.11:g.61859838C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu57Arg	rs1435822764	missense variant	-	NC_000017.11:g.61859831A>C	TOPMed
BRIP1	Q9BX63	p.Cys58Tyr	RCV000575988	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859828C>T	ClinVar
BRIP1	Q9BX63	p.Cys58Tyr	RCV000475170	missense variant	Familial cancer of breast	NC_000017.11:g.61859828C>T	ClinVar
BRIP1	Q9BX63	p.Cys58Tyr	rs749920386	missense variant	-	NC_000017.11:g.61859828C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala60Thr	rs1555618394	missense variant	-	NC_000017.11:g.61859823C>T	-
BRIP1	Q9BX63	p.Ala60Thr	RCV000636093	missense variant	Familial cancer of breast	NC_000017.11:g.61859823C>T	ClinVar
BRIP1	Q9BX63	p.Leu61Val	rs765205377	missense variant	-	NC_000017.11:g.61859820A>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu61Ser	RCV000705060	missense variant	Familial cancer of breast	NC_000017.11:g.61859819A>G	ClinVar
BRIP1	Q9BX63	p.Ala62Thr	RCV000541366	missense variant	Familial cancer of breast	NC_000017.11:g.61859817C>T	ClinVar
BRIP1	Q9BX63	p.Ala62Ser	RCV000165899	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859817C>A	ClinVar
BRIP1	Q9BX63	p.Ala62Thr	rs786202861	missense variant	-	NC_000017.11:g.61859817C>T	-
BRIP1	Q9BX63	p.Ala62Ser	rs786202861	missense variant	-	NC_000017.11:g.61859817C>A	-
BRIP1	Q9BX63	p.Gln65Arg	RCV000579786	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859807T>C	ClinVar
BRIP1	Q9BX63	p.Gln65Ter	RCV000588194	nonsense	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61859808G>A	ClinVar
BRIP1	Q9BX63	p.Gln65Ter	rs575595017	stop gained	-	NC_000017.11:g.61859808G>A	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Gln65Arg	rs1555618377	missense variant	-	NC_000017.11:g.61859807T>C	-
BRIP1	Q9BX63	p.Ser68Ter	RCV000549682	frameshift	Familial cancer of breast	NC_000017.11:g.61859800_61859801dup	ClinVar
BRIP1	Q9BX63	p.Gly69Arg	RCV000549099	missense variant	Familial cancer of breast	NC_000017.11:g.61859796C>T	ClinVar
BRIP1	Q9BX63	p.Gly69Arg	rs372581879	missense variant	-	NC_000017.11:g.61859796C>T	ESP,TOPMed
BRIP1	Q9BX63	p.Gly69Arg	RCV000586010	missense variant	-	NC_000017.11:g.61859796C>T	ClinVar
BRIP1	Q9BX63	p.Gly69Arg	RCV000223223	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61859796C>T	ClinVar
BRIP1	Q9BX63	p.Lys70Thr	rs957072709	missense variant	-	NC_000017.11:g.61857228T>G	TOPMed
BRIP1	Q9BX63	p.Lys70Ter	RCV000636155	frameshift	Familial cancer of breast	NC_000017.11:g.61857229del	ClinVar
BRIP1	Q9BX63	p.Lys70Thr	RCV000580217	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857228T>G	ClinVar
BRIP1	Q9BX63	p.Lys70Thr	RCV000705430	missense variant	Familial cancer of breast	NC_000017.11:g.61857228T>G	ClinVar
BRIP1	Q9BX63	p.Pro71Ser	rs876659680	missense variant	-	NC_000017.11:g.61857226G>A	gnomAD
BRIP1	Q9BX63	p.Pro71Ser	RCV000217208	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857226G>A	ClinVar
BRIP1	Q9BX63	p.Pro71Leu	rs779629295	missense variant	-	NC_000017.11:g.61857225G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala72Thr	RCV000564499	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857223C>T	ClinVar
BRIP1	Q9BX63	p.Ala72Thr	rs1357919929	missense variant	-	NC_000017.11:g.61857223C>T	gnomAD
BRIP1	Q9BX63	p.Ala72Thr	RCV000793926	missense variant	Familial cancer of breast	NC_000017.11:g.61857223C>T	ClinVar
BRIP1	Q9BX63	p.Gly75Ser	rs1317680188	missense variant	-	NC_000017.11:g.61857214C>T	gnomAD
BRIP1	Q9BX63	p.Val76Ile	RCV000473938	missense variant	Familial cancer of breast	NC_000017.11:g.61857211C>T	ClinVar
BRIP1	Q9BX63	p.Val76Ile	rs769573395	missense variant	-	NC_000017.11:g.61857211C>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala80Asp	rs1327144251	missense variant	-	NC_000017.11:g.61857198G>T	gnomAD
BRIP1	Q9BX63	p.Glu81Lys	rs1397368808	missense variant	-	NC_000017.11:g.61857196C>T	gnomAD
BRIP1	Q9BX63	p.Glu81Ter	RCV000780064	frameshift	Familial cancer of breast	NC_000017.11:g.61857196del	ClinVar
BRIP1	Q9BX63	p.Val82Leu	rs565078834	missense variant	-	NC_000017.11:g.61857193C>A	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Val82Glu	RCV000221344	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857192A>T	ClinVar
BRIP1	Q9BX63	p.Val82Ile	rs565078834	missense variant	-	NC_000017.11:g.61857193C>T	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Val82Glu	rs876659594	missense variant	-	NC_000017.11:g.61857192A>T	-
BRIP1	Q9BX63	p.Val82Ter	RCV000484917	frameshift	-	NC_000017.11:g.61857195del	ClinVar
BRIP1	Q9BX63	p.Val82Ter	RCV000804981	frameshift	Familial cancer of breast	NC_000017.11:g.61857195del	ClinVar
BRIP1	Q9BX63	p.Gln83Pro	rs1383287302	missense variant	-	NC_000017.11:g.61857189T>G	gnomAD
BRIP1	Q9BX63	p.Gln83Ter	rs756707967	stop gained	-	NC_000017.11:g.61857190G>A	ExAC
BRIP1	Q9BX63	p.Leu84Met	COSM1133499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61857187A>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ser85Leu	RCV000484594	missense variant	-	NC_000017.11:g.61857183G>A	ClinVar
BRIP1	Q9BX63	p.Ser85Leu	RCV000662486	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857183G>A	ClinVar
BRIP1	Q9BX63	p.Ser85Leu	RCV000198791	missense variant	Familial cancer of breast	NC_000017.11:g.61857183G>A	ClinVar
BRIP1	Q9BX63	p.Ser85Leu	RCV000130117	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857183G>A	ClinVar
BRIP1	Q9BX63	p.Ser85Leu	rs587781830	missense variant	-	NC_000017.11:g.61857183G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Cys86Gly	rs1555617900	missense variant	-	NC_000017.11:g.61857181A>C	-
BRIP1	Q9BX63	p.Cys86Tyr	rs1323005329	missense variant	-	NC_000017.11:g.61857180C>T	gnomAD
BRIP1	Q9BX63	p.Cys86Arg	rs1555617900	missense variant	-	NC_000017.11:g.61857181A>G	-
BRIP1	Q9BX63	p.Cys86Arg	RCV000544893	missense variant	Familial cancer of breast	NC_000017.11:g.61857181A>G	ClinVar
BRIP1	Q9BX63	p.Cys86Gly	RCV000582528	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857181A>C	ClinVar
BRIP1	Q9BX63	p.Cys87Ser	rs863224800	missense variant	-	NC_000017.11:g.61857177C>G	-
BRIP1	Q9BX63	p.Cys87Ser	RCV000564994	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857178A>T	ClinVar
BRIP1	Q9BX63	p.Cys87Tyr	RCV000200543	missense variant	Familial cancer of breast	NC_000017.11:g.61857177C>T	ClinVar
BRIP1	Q9BX63	p.Cys87Ser	RCV000197005	missense variant	Familial cancer of breast	NC_000017.11:g.61857177C>G	ClinVar
BRIP1	Q9BX63	p.Cys87Ser	RCV000802648	missense variant	Familial cancer of breast	NC_000017.11:g.61857178A>T	ClinVar
BRIP1	Q9BX63	p.Cys87Tyr	rs863224800	missense variant	-	NC_000017.11:g.61857177C>T	-
BRIP1	Q9BX63	p.Cys87Ser	rs1555617897	missense variant	-	NC_000017.11:g.61857178A>T	-
BRIP1	Q9BX63	p.Cys88Gly	rs1555617890	missense variant	-	NC_000017.11:g.61857175A>C	-
BRIP1	Q9BX63	p.Cys88Gly	RCV000636078	missense variant	Familial cancer of breast	NC_000017.11:g.61857175A>C	ClinVar
BRIP1	Q9BX63	p.Ala89Thr	rs1555617884	missense variant	-	NC_000017.11:g.61857172C>T	-
BRIP1	Q9BX63	p.Ala89Gly	rs1349422972	missense variant	-	NC_000017.11:g.61857171G>C	TOPMed
BRIP1	Q9BX63	p.Ala89Thr	RCV000558834	missense variant	Familial cancer of breast	NC_000017.11:g.61857172C>T	ClinVar
BRIP1	Q9BX63	p.Ala89Gly	RCV000709566	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857171G>C	ClinVar
BRIP1	Q9BX63	p.Ala89Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61857172C>A	NCI-TCGA
BRIP1	Q9BX63	p.Cys90Tyr	rs1221074399	missense variant	-	NC_000017.11:g.61857168C>T	gnomAD
BRIP1	Q9BX63	p.Cys90Arg	rs1250665493	missense variant	-	NC_000017.11:g.61857169A>G	gnomAD
BRIP1	Q9BX63	p.Cys90Ter	rs1060501740	stop gained	-	NC_000017.11:g.61857167G>T	-
BRIP1	Q9BX63	p.Cys90Ter	RCV000460420	nonsense	Familial cancer of breast	NC_000017.11:g.61857167G>T	ClinVar
BRIP1	Q9BX63	p.Ser92Pro	rs755930156	missense variant	-	NC_000017.11:g.61857163A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp94Gly	RCV000197173	missense variant	Familial cancer of breast	NC_000017.11:g.61857156T>C	ClinVar
BRIP1	Q9BX63	p.Asp94Gly	RCV000580165	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857156T>C	ClinVar
BRIP1	Q9BX63	p.Asp94Gly	rs529201896	missense variant	-	NC_000017.11:g.61857156T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Asn97Lys	rs766561078	missense variant	-	NC_000017.11:g.61857146G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Asn98Ser	rs781121675	missense variant	-	NC_000017.11:g.61857144T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn98Ser	RCV000567628	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857144T>C	ClinVar
BRIP1	Q9BX63	p.Asn98Ser	RCV000478530	missense variant	-	NC_000017.11:g.61857144T>C	ClinVar
BRIP1	Q9BX63	p.Asn98Ser	RCV000206440	missense variant	Familial cancer of breast	NC_000017.11:g.61857144T>C	ClinVar
BRIP1	Q9BX63	p.Asn98Lys	RCV000707118	missense variant	Familial cancer of breast	NC_000017.11:g.61857143A>C	ClinVar
BRIP1	Q9BX63	p.Asp99Ala	RCV000478481	missense variant	-	NC_000017.11:g.61857141T>G	ClinVar
BRIP1	Q9BX63	p.Asp99Val	rs773532701	missense variant	-	NC_000017.11:g.61857141T>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp99Ter	RCV000708606	nonsense	-	NC_000017.11:g.61857139del	ClinVar
BRIP1	Q9BX63	p.Asp99Ala	rs773532701	missense variant	-	NC_000017.11:g.61857141T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Met100Thr	rs587782427	missense variant	-	NC_000017.11:g.61857138A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Met100Thr	RCV000460063	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857138A>G	ClinVar
BRIP1	Q9BX63	p.Met100Thr	RCV000663002	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857138A>G	ClinVar
BRIP1	Q9BX63	p.Met100Thr	RCV000131481	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857138A>G	ClinVar
BRIP1	Q9BX63	p.Asn101Lys	rs1425170841	missense variant	-	NC_000017.11:g.61857134G>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln102Arg	RCV000566912	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857132T>C	ClinVar
BRIP1	Q9BX63	p.Gln102Arg	rs1484234707	missense variant	-	NC_000017.11:g.61857132T>C	TOPMed
BRIP1	Q9BX63	p.Gln102Arg	RCV000636126	missense variant	Familial cancer of breast	NC_000017.11:g.61857132T>C	ClinVar
BRIP1	Q9BX63	p.Gly103Ter	RCV000657701	nonsense	-	NC_000017.11:g.61857130C>A	ClinVar
BRIP1	Q9BX63	p.Gly103Ter	RCV000561824	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857130del	ClinVar
BRIP1	Q9BX63	p.Gly103Arg	rs777068696	missense variant	-	NC_000017.11:g.61857130C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly103Arg	RCV000636148	missense variant	Familial cancer of breast	NC_000017.11:g.61857130C>T	ClinVar
BRIP1	Q9BX63	p.Gly103Ter	rs777068696	stop gained	-	NC_000017.11:g.61857130C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr104Ile	RCV000222811	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857126G>A	ClinVar
BRIP1	Q9BX63	p.Thr104Ile	rs876659500	missense variant	-	NC_000017.11:g.61857126G>A	-
BRIP1	Q9BX63	p.Ser105Ter	rs1555617829	stop gained	-	NC_000017.11:g.61857123G>C	-
BRIP1	Q9BX63	p.Ser105Ter	RCV000571146	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857123G>C	ClinVar
BRIP1	Q9BX63	p.Arg106Cys	RCV000780051	missense variant	-	NC_000017.11:g.61857121G>A	ClinVar
BRIP1	Q9BX63	p.Arg106Ser	RCV000216303	missense variant	-	NC_000017.11:g.61857121G>T	ClinVar
BRIP1	Q9BX63	p.Arg106Ser	rs587780247	missense variant	-	NC_000017.11:g.61857121G>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg106His	rs143615668	missense variant	-	NC_000017.11:g.61857120C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg106Cys	rs587780247	missense variant	-	NC_000017.11:g.61857121G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg106His	RCV000197570	missense variant	Familial cancer of breast	NC_000017.11:g.61857120C>T	ClinVar
BRIP1	Q9BX63	p.Arg106Ser	RCV000526478	missense variant	Familial cancer of breast	NC_000017.11:g.61857121G>T	ClinVar
BRIP1	Q9BX63	p.Arg106His	RCV000588637	missense variant	-	NC_000017.11:g.61857120C>T	ClinVar
BRIP1	Q9BX63	p.Arg106His	RCV000220020	missense variant	-	NC_000017.11:g.61857120C>T	ClinVar
BRIP1	Q9BX63	p.His107Arg	rs876659809	missense variant	-	NC_000017.11:g.61857117T>C	TOPMed
BRIP1	Q9BX63	p.His107Pro	RCV000221098	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857117T>G	ClinVar
BRIP1	Q9BX63	p.His107Pro	rs876659809	missense variant	-	NC_000017.11:g.61857117T>G	TOPMed
BRIP1	Q9BX63	p.Phe108Ser	COSM1589082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61857114A>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asn109Ser	RCV000213770	missense variant	-	NC_000017.11:g.61857111T>C	ClinVar
BRIP1	Q9BX63	p.Asn109Ser	rs587782734	missense variant	-	NC_000017.11:g.61857111T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Asn109Ser	RCV000687515	missense variant	Familial cancer of breast	NC_000017.11:g.61857111T>C	ClinVar
BRIP1	Q9BX63	p.Asn109Ser	RCV000132232	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857111T>C	ClinVar
BRIP1	Q9BX63	p.Asn109Ser	RCV000709565	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857111T>C	ClinVar
BRIP1	Q9BX63	p.Tyr110His	RCV000529399	missense variant	Familial cancer of breast	NC_000017.11:g.61857109A>G	ClinVar
BRIP1	Q9BX63	p.Tyr110His	rs1555617821	missense variant	-	NC_000017.11:g.61857109A>G	-
BRIP1	Q9BX63	p.Tyr110Cys	rs1555617818	missense variant	-	NC_000017.11:g.61857108T>C	-
BRIP1	Q9BX63	p.Tyr110Cys	RCV000581815	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857108T>C	ClinVar
BRIP1	Q9BX63	p.Tyr110Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61857108T>A	NCI-TCGA
BRIP1	Q9BX63	p.Pro111Gln	RCV000222664	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857105G>T	ClinVar
BRIP1	Q9BX63	p.Pro111Gln	RCV000226236	missense variant	Familial cancer of breast	NC_000017.11:g.61857105G>T	ClinVar
BRIP1	Q9BX63	p.Pro111Gln	RCV000160339	missense variant	-	NC_000017.11:g.61857105G>T	ClinVar
BRIP1	Q9BX63	p.Pro111Gln	rs201790351	missense variant	-	NC_000017.11:g.61857105G>T	1000Genomes,TOPMed
BRIP1	Q9BX63	p.Pro111Ser	rs1200837936	missense variant	-	NC_000017.11:g.61857106G>A	gnomAD
BRIP1	Q9BX63	p.Ser112Asn	rs1555617813	missense variant	-	NC_000017.11:g.61857102C>T	-
BRIP1	Q9BX63	p.Ser112Asn	RCV000636103	missense variant	Familial cancer of breast	NC_000017.11:g.61857102C>T	ClinVar
BRIP1	Q9BX63	p.Thr113Ile	RCV000535510	missense variant	Familial cancer of breast	NC_000017.11:g.61857099G>A	ClinVar
BRIP1	Q9BX63	p.Thr113Ile	RCV000571933	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857099G>A	ClinVar
BRIP1	Q9BX63	p.Thr113Pro	RCV000568848	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857100T>G	ClinVar
BRIP1	Q9BX63	p.Thr113Ile	rs778480809	missense variant	-	NC_000017.11:g.61857099G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr113Pro	rs1555617812	missense variant	-	NC_000017.11:g.61857100T>G	-
BRIP1	Q9BX63	p.Pro114Gln	rs876658965	missense variant	-	NC_000017.11:g.61857096G>T	gnomAD
BRIP1	Q9BX63	p.Pro114Leu	RCV000219242	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857096G>A	ClinVar
BRIP1	Q9BX63	p.Pro114Gln	RCV000466721	missense variant	Familial cancer of breast	NC_000017.11:g.61857096G>T	ClinVar
BRIP1	Q9BX63	p.Pro114Leu	rs876658965	missense variant	-	NC_000017.11:g.61857096G>A	gnomAD
BRIP1	Q9BX63	p.Pro115Leu	RCV000573255	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857093G>A	ClinVar
BRIP1	Q9BX63	p.Pro115Ser	RCV000781173	missense variant	-	NC_000017.11:g.61857094G>A	ClinVar
BRIP1	Q9BX63	p.Pro115Ser	RCV000636083	missense variant	Familial cancer of breast	NC_000017.11:g.61857094G>A	ClinVar
BRIP1	Q9BX63	p.Pro115His	RCV000771450	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857093G>T	ClinVar
BRIP1	Q9BX63	p.Pro115Ser	RCV000219689	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857094G>A	ClinVar
BRIP1	Q9BX63	p.Pro115Leu	rs1555617800	missense variant	-	NC_000017.11:g.61857093G>A	-
BRIP1	Q9BX63	p.Pro115Ser	rs876659142	missense variant	-	NC_000017.11:g.61857094G>A	-
BRIP1	Q9BX63	p.Ser116Cys	RCV000167086	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857090G>C	ClinVar
BRIP1	Q9BX63	p.Ser116Cys	RCV000814712	missense variant	Familial cancer of breast	NC_000017.11:g.61857090G>C	ClinVar
BRIP1	Q9BX63	p.Ser116Cys	rs748793974	missense variant	-	NC_000017.11:g.61857090G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser116Phe	rs748793974	missense variant	-	NC_000017.11:g.61857090G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu117Ter	rs786203890	stop gained	-	NC_000017.11:g.61857088C>A	-
BRIP1	Q9BX63	p.Glu117Ter	RCV000167391	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857088C>A	ClinVar
BRIP1	Q9BX63	p.Asn119Lys	RCV000229479	missense variant	Familial cancer of breast	NC_000017.11:g.61857080A>T	ClinVar
BRIP1	Q9BX63	p.Asn119Ser	rs889877039	missense variant	-	NC_000017.11:g.61857081T>C	TOPMed
BRIP1	Q9BX63	p.Asn119Lys	rs786202477	missense variant	-	NC_000017.11:g.61857080A>T	TOPMed
BRIP1	Q9BX63	p.Asn119Ser	RCV000539870	missense variant	Familial cancer of breast	NC_000017.11:g.61857081T>C	ClinVar
BRIP1	Q9BX63	p.Asn119Ser	RCV000572830	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857081T>C	ClinVar
BRIP1	Q9BX63	p.Gly120Asp	RCV000532063	missense variant	Familial cancer of breast	NC_000017.11:g.61857078C>T	ClinVar
BRIP1	Q9BX63	p.Gly120Asp	RCV000160340	missense variant	-	NC_000017.11:g.61857078C>T	ClinVar
BRIP1	Q9BX63	p.Gly120Asp	RCV000581551	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857078C>T	ClinVar
BRIP1	Q9BX63	p.Gly120Asp	rs730881637	missense variant	-	NC_000017.11:g.61857078C>T	gnomAD
BRIP1	Q9BX63	p.Thr121Ser	RCV000705215	missense variant	Familial cancer of breast	NC_000017.11:g.61857075G>C	ClinVar
BRIP1	Q9BX63	p.Thr121Ala	RCV000797303	missense variant	Familial cancer of breast	NC_000017.11:g.61857076T>C	ClinVar
BRIP1	Q9BX63	p.Thr121Ser	RCV000216740	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857075G>C	ClinVar
BRIP1	Q9BX63	p.Thr121Ala	RCV000777494	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857076T>C	ClinVar
BRIP1	Q9BX63	p.Thr121Ter	RCV000699626	frameshift	Familial cancer of breast	NC_000017.11:g.61857076_61857079dup	ClinVar
BRIP1	Q9BX63	p.Thr121Ser	rs777630298	missense variant	-	NC_000017.11:g.61857075G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser122Ala	RCV000552732	missense variant	Familial cancer of breast	NC_000017.11:g.61857073A>C	ClinVar
BRIP1	Q9BX63	p.Ser122Ala	rs1555617788	missense variant	-	NC_000017.11:g.61857073A>C	-
BRIP1	Q9BX63	p.Ser123Leu	COSM1710584	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61857069G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Thr124Pro	rs45617634	missense variant	-	NC_000017.11:g.61857067T>G	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr124Pro	RCV000165248	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857067T>G	ClinVar
BRIP1	Q9BX63	p.Thr124Pro	RCV000460048	missense variant	Familial cancer of breast	NC_000017.11:g.61857067T>G	ClinVar
BRIP1	Q9BX63	p.Thr124Ala	RCV000409265	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61857067T>C	ClinVar
BRIP1	Q9BX63	p.Thr124Ala	RCV000212299	missense variant	-	NC_000017.11:g.61857067T>C	ClinVar
BRIP1	Q9BX63	p.Thr124Ala	RCV000410368	missense variant	Neoplasm of ovary	NC_000017.11:g.61857067T>C	ClinVar
BRIP1	Q9BX63	p.Thr124Ala	rs45617634	missense variant	-	NC_000017.11:g.61857067T>C	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr124Ala	RCV000205266	missense variant	Familial cancer of breast	NC_000017.11:g.61857067T>C	ClinVar
BRIP1	Q9BX63	p.Thr124Ala	RCV000160363	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857067T>C	ClinVar
BRIP1	Q9BX63	p.Cys125Ser	RCV000792628	missense variant	Familial cancer of breast	NC_000017.11:g.61857063C>G	ClinVar
BRIP1	Q9BX63	p.Cys125Ser	RCV000216937	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857063C>G	ClinVar
BRIP1	Q9BX63	p.Cys125Ser	rs876660020	missense variant	-	NC_000017.11:g.61857063C>G	-
BRIP1	Q9BX63	p.Gln126Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61857061G>A	NCI-TCGA
BRIP1	Q9BX63	p.Asp127Gly	rs1170174893	missense variant	-	NC_000017.11:g.61849256T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp127Asn	rs1311206718	missense variant	-	NC_000017.11:g.61857058C>T	TOPMed
BRIP1	Q9BX63	p.Asp127Asn	RCV000580227	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61857058C>T	ClinVar
BRIP1	Q9BX63	p.Pro129Ser	RCV000536304	missense variant	Familial cancer of breast	NC_000017.11:g.61849251G>A	ClinVar
BRIP1	Q9BX63	p.Pro129Ter	RCV000221096	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849253del	ClinVar
BRIP1	Q9BX63	p.Pro129Leu	RCV000213973	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849250G>A	ClinVar
BRIP1	Q9BX63	p.Pro129Arg	rs587780831	missense variant	-	NC_000017.11:g.61849250G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro129Ser	rs1555616229	missense variant	-	NC_000017.11:g.61849251G>A	-
BRIP1	Q9BX63	p.Pro129Leu	RCV000484573	missense variant	-	NC_000017.11:g.61849250G>A	ClinVar
BRIP1	Q9BX63	p.Pro129Leu	RCV000123359	missense variant	Familial cancer of breast	NC_000017.11:g.61849250G>A	ClinVar
BRIP1	Q9BX63	p.Pro129Arg	RCV000583933	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849250G>C	ClinVar
BRIP1	Q9BX63	p.Pro129Leu	rs587780831	missense variant	-	NC_000017.11:g.61849250G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu130Lys	RCV000218899	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849248C>T	ClinVar
BRIP1	Q9BX63	p.Glu130Lys	rs876658860	missense variant	-	NC_000017.11:g.61849248C>T	gnomAD
BRIP1	Q9BX63	p.Thr132Ser	RCV000212300	missense variant	-	NC_000017.11:g.61849242T>A	ClinVar
BRIP1	Q9BX63	p.Thr132Ser	rs730881623	missense variant	-	NC_000017.11:g.61849242T>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr132Ser	RCV000160320	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849242T>A	ClinVar
BRIP1	Q9BX63	p.Thr132Ser	RCV000167936	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849242T>A	ClinVar
BRIP1	Q9BX63	p.Thr132Ser	RCV000662866	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849242T>A	ClinVar
BRIP1	Q9BX63	p.Thr132Ter	RCV000636112	frameshift	Familial cancer of breast	NC_000017.11:g.61849247dup	ClinVar
BRIP1	Q9BX63	p.Thr132Asn	rs753965650	missense variant	-	NC_000017.11:g.61849241G>T	ExAC
BRIP1	Q9BX63	p.Thr132Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61849242T>G	NCI-TCGA
BRIP1	Q9BX63	p.Thr132Asn	rs753965650	missense variant	-	NC_000017.11:g.61849241G>T	NCI-TCGA
BRIP1	Q9BX63	p.Thr132Ter	RCV000129282	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849247dup	ClinVar
BRIP1	Q9BX63	p.Thr133Ser	RCV000570140	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849239T>A	ClinVar
BRIP1	Q9BX63	p.Thr133Ser	RCV000525072	missense variant	Familial cancer of breast	NC_000017.11:g.61849239T>A	ClinVar
BRIP1	Q9BX63	p.Thr133Ser	rs764256720	missense variant	-	NC_000017.11:g.61849239T>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr133Ter	RCV000565228	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849237_61849241del	ClinVar
BRIP1	Q9BX63	p.Thr133Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61849239T>G	NCI-TCGA
BRIP1	Q9BX63	p.Leu134Met	RCV000463838	missense variant	Familial cancer of breast	NC_000017.11:g.61849236G>T	ClinVar
BRIP1	Q9BX63	p.Leu134Met	RCV000221937	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849236G>T	ClinVar
BRIP1	Q9BX63	p.Leu134Met	rs876658195	missense variant	-	NC_000017.11:g.61849236G>T	TOPMed
BRIP1	Q9BX63	p.Leu134Val	COSM3820131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61849236G>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ala135Gly	rs1295736478	missense variant	-	NC_000017.11:g.61849232G>C	TOPMed
BRIP1	Q9BX63	p.Lys137Glu	rs878855157	missense variant	-	NC_000017.11:g.61849227T>C	TOPMed
BRIP1	Q9BX63	p.Lys137Glu	RCV000227127	missense variant	Familial cancer of breast	NC_000017.11:g.61849227T>C	ClinVar
BRIP1	Q9BX63	p.Lys137Glu	RCV000576071	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849227T>C	ClinVar
BRIP1	Q9BX63	p.Lys137Ter	RCV000439831	frameshift	-	NC_000017.11:g.61849227_61849228del	ClinVar
BRIP1	Q9BX63	p.Leu138Ser	RCV000662431	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849223A>G	ClinVar
BRIP1	Q9BX63	p.Leu138Ser	RCV000116160	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849223A>G	ClinVar
BRIP1	Q9BX63	p.Leu138Ser	rs587780251	missense variant	-	NC_000017.11:g.61849223A>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu138Ser	RCV000212301	missense variant	-	NC_000017.11:g.61849223A>G	ClinVar
BRIP1	Q9BX63	p.Leu138Ser	RCV000168359	missense variant	Familial cancer of breast	NC_000017.11:g.61849223A>G	ClinVar
BRIP1	Q9BX63	p.Ser139Ala	rs202072866	missense variant	-	NC_000017.11:g.61849221A>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser139Ala	RCV000131152	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849221A>C	ClinVar
BRIP1	Q9BX63	p.Ser139Ala	RCV000119157	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849221A>C	ClinVar
BRIP1	Q9BX63	p.Ser139Ala	RCV000589911	missense variant	-	NC_000017.11:g.61849221A>C	ClinVar
BRIP1	Q9BX63	p.Ser139Ala	RCV000411415	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849221A>C	ClinVar
BRIP1	Q9BX63	p.Ser139Ala	RCV000412061	missense variant	Neoplasm of ovary	NC_000017.11:g.61849221A>C	ClinVar
BRIP1	Q9BX63	p.Ser139Phe	RCV000688486	missense variant	Familial cancer of breast	NC_000017.11:g.61849220G>A	ClinVar
BRIP1	Q9BX63	p.Ser139Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61849220G>C	NCI-TCGA
BRIP1	Q9BX63	p.Lys142Glu	rs1555616188	missense variant	-	NC_000017.11:g.61849212T>C	-
BRIP1	Q9BX63	p.Lys142Glu	RCV000566378	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849212T>C	ClinVar
BRIP1	Q9BX63	p.Lys142Ter	RCV000485264	frameshift	-	NC_000017.11:g.61849207_61849216delinsTTT	ClinVar
BRIP1	Q9BX63	p.Ala144Glu	RCV000636153	missense variant	Familial cancer of breast	NC_000017.11:g.61849205G>T	ClinVar
BRIP1	Q9BX63	p.Ala144Thr	rs116952709	missense variant	-	NC_000017.11:g.61849206C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala144Glu	rs1555616182	missense variant	-	NC_000017.11:g.61849205G>T	-
BRIP1	Q9BX63	p.Ala144Thr	RCV000313578	missense variant	Neoplasm of the breast	NC_000017.11:g.61849206C>T	ClinVar
BRIP1	Q9BX63	p.Ile146Thr	rs774677996	missense variant	-	NC_000017.11:g.61849199A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Tyr147His	RCV000709563	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849197A>G	ClinVar
BRIP1	Q9BX63	p.Tyr147Ter	RCV000656708	frameshift	Familial cancer of breast	NC_000017.11:g.61849196del	ClinVar
BRIP1	Q9BX63	p.Tyr147Ter	RCV000657825	nonsense	-	NC_000017.11:g.61849196dup	ClinVar
BRIP1	Q9BX63	p.Tyr147Ter	RCV000166730	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849196_61849198delinsAG	ClinVar
BRIP1	Q9BX63	p.Tyr147Ter	RCV000166862	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849196dup	ClinVar
BRIP1	Q9BX63	p.Tyr147Ter	RCV000473245	nonsense	Familial cancer of breast	NC_000017.11:g.61849196dup	ClinVar
BRIP1	Q9BX63	p.Tyr147Ter	rs786203521	stop gained	-	NC_000017.11:g.61849196dup	-
BRIP1	Q9BX63	p.Arg148Lys	rs1243511600	missense variant	-	NC_000017.11:g.61849193C>T	gnomAD
BRIP1	Q9BX63	p.Asp149Gly	rs770613242	missense variant	-	NC_000017.11:g.61849190T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu150Lys	rs762701532	missense variant	-	NC_000017.11:g.61849188C>T	NCI-TCGA
BRIP1	Q9BX63	p.Glu150Lys	rs762701532	missense variant	-	NC_000017.11:g.61849188C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu150Ter	RCV000636081	nonsense	Familial cancer of breast	NC_000017.11:g.61849188C>A	ClinVar
BRIP1	Q9BX63	p.Glu150Ter	rs762701532	stop gained	-	NC_000017.11:g.61849188C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Asn151Ser	RCV000541078	missense variant	Familial cancer of breast	NC_000017.11:g.61849184T>C	ClinVar
BRIP1	Q9BX63	p.Asn151Ser	rs1555616165	missense variant	-	NC_000017.11:g.61849184T>C	-
BRIP1	Q9BX63	p.Asp152His	rs1207857968	missense variant	-	NC_000017.11:g.61849182C>G	TOPMed
BRIP1	Q9BX63	p.Asp153Asn	rs772695469	missense variant	-	NC_000017.11:g.61849179C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp153Gly	RCV000771681	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849178T>C	ClinVar
BRIP1	Q9BX63	p.Gln155Pro	RCV000583282	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849172T>G	ClinVar
BRIP1	Q9BX63	p.Gln155Pro	rs1555616153	missense variant	-	NC_000017.11:g.61849172T>G	-
BRIP1	Q9BX63	p.Gln155Ter	RCV000695687	frameshift	Familial cancer of breast	NC_000017.11:g.61849177dup	ClinVar
BRIP1	Q9BX63	p.Gln155Ter	RCV000699984	nonsense	Familial cancer of breast	NC_000017.11:g.61849173G>A	ClinVar
BRIP1	Q9BX63	p.Gln155Ter	RCV000130041	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849173G>A	ClinVar
BRIP1	Q9BX63	p.Gln155Ter	RCV000213568	nonsense	-	NC_000017.11:g.61849173G>A	ClinVar
BRIP1	Q9BX63	p.Gln155Ter	rs587781786	stop gained	-	NC_000017.11:g.61849173G>A	-
BRIP1	Q9BX63	p.Val156Ala	RCV000702303	missense variant	Familial cancer of breast	NC_000017.11:g.61849169A>G	ClinVar
BRIP1	Q9BX63	p.Val156Ile	RCV000223551	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849170C>T	ClinVar
BRIP1	Q9BX63	p.Val156Ile	rs876659373	missense variant	-	NC_000017.11:g.61849170C>T	TOPMed
BRIP1	Q9BX63	p.Val156Leu	rs876659373	missense variant	-	NC_000017.11:g.61849170C>A	TOPMed
BRIP1	Q9BX63	p.Lys158Thr	rs769364081	missense variant	-	NC_000017.11:g.61849163T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Lys159Glu	COSM1303149	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61849161T>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Arg160Ter	RCV000545986	frameshift	Familial cancer of breast	NC_000017.11:g.61849161del	ClinVar
BRIP1	Q9BX63	p.Arg160Thr	rs1330277587	missense variant	-	NC_000017.11:g.61849157C>G	gnomAD
BRIP1	Q9BX63	p.Arg160Ile	rs1330277587	missense variant	-	NC_000017.11:g.61849157C>A	gnomAD
BRIP1	Q9BX63	p.Arg160Ile	RCV000562873	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849157C>A	ClinVar
BRIP1	Q9BX63	p.Arg160Ile	RCV000679790	missense variant	-	NC_000017.11:g.61849157C>A	ClinVar
BRIP1	Q9BX63	p.Arg160Ile	rs1330277587	missense variant	-	NC_000017.11:g.61849157C>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ile161Val	RCV000549162	missense variant	Familial cancer of breast	NC_000017.11:g.61849155T>C	ClinVar
BRIP1	Q9BX63	p.Ile161Val	RCV000759712	missense variant	-	NC_000017.11:g.61849155T>C	ClinVar
BRIP1	Q9BX63	p.Ile161Val	RCV000167428	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849155T>C	ClinVar
BRIP1	Q9BX63	p.Ile161Val	rs786203916	missense variant	-	NC_000017.11:g.61849155T>C	-
BRIP1	Q9BX63	p.Arg162Ter	RCV000484711	nonsense	-	NC_000017.11:g.61849152G>A	ClinVar
BRIP1	Q9BX63	p.Arg162Ter	RCV000166003	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849152G>A	ClinVar
BRIP1	Q9BX63	p.Arg162Pro	rs61757643	missense variant	-	NC_000017.11:g.61849151C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg162Ter	RCV000198978	nonsense	Familial cancer of breast	NC_000017.11:g.61849152G>A	ClinVar
BRIP1	Q9BX63	p.Arg162Gln	RCV000424619	missense variant	-	NC_000017.11:g.61849151C>T	ClinVar
BRIP1	Q9BX63	p.Arg162Leu	RCV000131634	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849151C>A	ClinVar
BRIP1	Q9BX63	p.Arg162Gln	RCV000129791	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849151C>T	ClinVar
BRIP1	Q9BX63	p.Arg162Ter	rs747604569	stop gained	-	NC_000017.11:g.61849152G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg162Gln	rs61757643	missense variant	-	NC_000017.11:g.61849151C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg162Leu	rs61757643	missense variant	-	NC_000017.11:g.61849151C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg162Leu	RCV000662676	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849151C>A	ClinVar
BRIP1	Q9BX63	p.Arg162Pro	RCV000562353	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849151C>G	ClinVar
BRIP1	Q9BX63	p.Arg162Gln	RCV000466396	missense variant	Familial cancer of breast	NC_000017.11:g.61849151C>T	ClinVar
BRIP1	Q9BX63	p.Arg162Leu	RCV000231093	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61849151C>A	ClinVar
BRIP1	Q9BX63	p.Pro163Ser	RCV000565081	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849149G>A	ClinVar
BRIP1	Q9BX63	p.Pro163Ser	RCV000811860	missense variant	Familial cancer of breast	NC_000017.11:g.61849149G>A	ClinVar
BRIP1	Q9BX63	p.Pro163Ser	rs1064795902	missense variant	-	NC_000017.11:g.61849149G>A	-
BRIP1	Q9BX63	p.Pro163Ser	RCV000483934	missense variant	-	NC_000017.11:g.61849149G>A	ClinVar
BRIP1	Q9BX63	p.Glu165Asp	rs780024960	missense variant	-	NC_000017.11:g.61849141T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu165Gln	rs1391690780	missense variant	-	NC_000017.11:g.61849143C>G	gnomAD
BRIP1	Q9BX63	p.Glu165Asp	RCV000580382	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849141T>G	ClinVar
BRIP1	Q9BX63	p.Glu165Asp	RCV000807668	missense variant	Familial cancer of breast	NC_000017.11:g.61849141T>G	ClinVar
BRIP1	Q9BX63	p.Thr167Ile	RCV000525279	missense variant	Familial cancer of breast	NC_000017.11:g.61849136G>A	ClinVar
BRIP1	Q9BX63	p.Thr167Ile	RCV000561920	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849136G>A	ClinVar
BRIP1	Q9BX63	p.Thr167Ile	rs758218234	missense variant	-	NC_000017.11:g.61849136G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr167Ala	rs1060501738	missense variant	-	NC_000017.11:g.61849137T>C	-
BRIP1	Q9BX63	p.Thr167Ala	RCV000466657	missense variant	Familial cancer of breast	NC_000017.11:g.61849137T>C	ClinVar
BRIP1	Q9BX63	p.Gln168Lys	RCV000581000	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61849134G>T	ClinVar
BRIP1	Q9BX63	p.Gln168Ter	rs748211848	stop gained	-	NC_000017.11:g.61849134G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln168Lys	RCV000702494	missense variant	Familial cancer of breast	NC_000017.11:g.61849134G>T	ClinVar
BRIP1	Q9BX63	p.Gln168Lys	rs748211848	missense variant	-	NC_000017.11:g.61849134G>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln169His	RCV000636164	missense variant	Familial cancer of breast	NC_000017.11:g.61849129C>A	ClinVar
BRIP1	Q9BX63	p.Gln169His	rs876660937	missense variant	-	NC_000017.11:g.61849129C>A	-
BRIP1	Q9BX63	p.Ile170Ser	rs1265322103	missense variant	-	NC_000017.11:g.61847219A>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile170Met	rs1372901008	missense variant	-	NC_000017.11:g.61847218A>C	TOPMed
BRIP1	Q9BX63	p.Lys172Glu	rs1060501765	missense variant	-	NC_000017.11:g.61847214T>C	-
BRIP1	Q9BX63	p.Lys172Glu	RCV000775734	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847214T>C	ClinVar
BRIP1	Q9BX63	p.Lys172Glu	RCV000464158	missense variant	Familial cancer of breast	NC_000017.11:g.61847214T>C	ClinVar
BRIP1	Q9BX63	p.Arg173His	rs761432927	missense variant	-	NC_000017.11:g.61847210C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg173His	RCV000709562	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847210C>T	ClinVar
BRIP1	Q9BX63	p.Arg173Pro	RCV000773693	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847210C>G	ClinVar
BRIP1	Q9BX63	p.Arg173His	RCV000199555	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847210C>T	ClinVar
BRIP1	Q9BX63	p.Arg173His	RCV000166292	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847210C>T	ClinVar
BRIP1	Q9BX63	p.Arg173Cys	RCV000123360	missense variant	Familial cancer of breast	NC_000017.11:g.61847211G>A	ClinVar
BRIP1	Q9BX63	p.Arg173Cys	rs4988345	missense variant	-	NC_000017.11:g.61847211G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.His174Tyr	RCV000233677	missense variant	Familial cancer of breast	NC_000017.11:g.61847208G>A	ClinVar
BRIP1	Q9BX63	p.His174Tyr	rs776248182	missense variant	-	NC_000017.11:g.61847208G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Cys175Gly	rs546727788	missense variant	-	NC_000017.11:g.61847205A>C	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Cys175Ser	rs546727788	missense variant	-	NC_000017.11:g.61847205A>T	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Cys175Gly	RCV000562523	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847205A>C	ClinVar
BRIP1	Q9BX63	p.Phe176Val	rs746963627	missense variant	-	NC_000017.11:g.61847202A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr178Ile	RCV000555022	missense variant	Familial cancer of breast	NC_000017.11:g.61847195G>A	ClinVar
BRIP1	Q9BX63	p.Thr178Ile	RCV000478045	missense variant	-	NC_000017.11:g.61847195G>A	ClinVar
BRIP1	Q9BX63	p.Thr178Ile	RCV000219733	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847195G>A	ClinVar
BRIP1	Q9BX63	p.Thr178Ile	rs876658780	missense variant	-	NC_000017.11:g.61847195G>A	gnomAD
BRIP1	Q9BX63	p.Glu179Ter	rs1555615784	stop gained	-	NC_000017.11:g.61847193C>A	-
BRIP1	Q9BX63	p.Glu179Ter	RCV000575600	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847193C>A	ClinVar
BRIP1	Q9BX63	p.Leu183Ter	RCV000475128	frameshift	Familial cancer of breast	NC_000017.11:g.61847182del	ClinVar
BRIP1	Q9BX63	p.Asp184Tyr	RCV000212302	missense variant	-	NC_000017.11:g.61847178C>A	ClinVar
BRIP1	Q9BX63	p.Asp184Tyr	RCV000132540	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847178C>A	ClinVar
BRIP1	Q9BX63	p.Asp184Asn	RCV000166445	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847178C>T	ClinVar
BRIP1	Q9BX63	p.Asp184Asn	RCV000461927	missense variant	Familial cancer of breast	NC_000017.11:g.61847178C>T	ClinVar
BRIP1	Q9BX63	p.Asp184Asn	rs201047375	missense variant	-	NC_000017.11:g.61847178C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp184Tyr	RCV000168177	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847178C>A	ClinVar
BRIP1	Q9BX63	p.Asp184Tyr	RCV000662870	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847178C>A	ClinVar
BRIP1	Q9BX63	p.Asp184Tyr	rs201047375	missense variant	-	NC_000017.11:g.61847178C>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala185Thr	RCV000471201	missense variant	Familial cancer of breast	NC_000017.11:g.61847175C>T	ClinVar
BRIP1	Q9BX63	p.Ala185Thr	rs745645356	missense variant	-	NC_000017.11:g.61847175C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala185Thr	RCV000581355	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847175C>T	ClinVar
BRIP1	Q9BX63	p.Lys186Glu	RCV000160321	missense variant	-	NC_000017.11:g.61847172T>C	ClinVar
BRIP1	Q9BX63	p.Lys186Glu	rs730881624	missense variant	-	NC_000017.11:g.61847172T>C	-
BRIP1	Q9BX63	p.Val187Phe	RCV000223649	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847169C>A	ClinVar
BRIP1	Q9BX63	p.Val187Phe	rs876659064	missense variant	-	NC_000017.11:g.61847169C>A	-
BRIP1	Q9BX63	p.Ser189Ter	RCV000657683	nonsense	-	NC_000017.11:g.61847162G>C	ClinVar
BRIP1	Q9BX63	p.Ser189Leu	RCV000772935	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847162G>A	ClinVar
BRIP1	Q9BX63	p.Ser189Leu	rs1555615763	missense variant	-	NC_000017.11:g.61847162G>A	NCI-TCGA
BRIP1	Q9BX63	p.Ser189Ter	rs1555615763	stop gained	-	NC_000017.11:g.61847162G>C	-
BRIP1	Q9BX63	p.Gly190Glu	RCV000458246	missense variant	Familial cancer of breast	NC_000017.11:g.61847159C>T	ClinVar
BRIP1	Q9BX63	p.Gly190Glu	rs756269682	missense variant	-	NC_000017.11:g.61847159C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly190Glu	rs756269682	missense variant	-	NC_000017.11:g.61847159C>T	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Lys191Asn	RCV000777071	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847155C>A	ClinVar
BRIP1	Q9BX63	p.Lys191Arg	rs748268716	missense variant	-	NC_000017.11:g.61847156T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr192Ter	RCV000804472	frameshift	Familial cancer of breast	NC_000017.11:g.61847152del	ClinVar
BRIP1	Q9BX63	p.Thr192Asn	RCV000572207	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847153G>T	ClinVar
BRIP1	Q9BX63	p.Thr192Ter	RCV000217247	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847152del	ClinVar
BRIP1	Q9BX63	p.Thr192Ile	rs1429063662	missense variant	-	NC_000017.11:g.61847153G>A	gnomAD
BRIP1	Q9BX63	p.Thr192Asn	rs1429063662	missense variant	-	NC_000017.11:g.61847153G>T	gnomAD
BRIP1	Q9BX63	p.Val193Ile	rs4988346	missense variant	-	NC_000017.11:g.61847151C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Val193Ile	RCV000120406	missense variant	-	NC_000017.11:g.61847151C>T	ClinVar
BRIP1	Q9BX63	p.Val193Ile	RCV000759713	missense variant	-	NC_000017.11:g.61847151C>T	ClinVar
BRIP1	Q9BX63	p.Val193Ile	RCV000410926	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61847151C>T	ClinVar
BRIP1	Q9BX63	p.Val193Ile	RCV000412457	missense variant	Neoplasm of ovary	NC_000017.11:g.61847151C>T	ClinVar
BRIP1	Q9BX63	p.Val193Ile	RCV000116161	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847151C>T	ClinVar
BRIP1	Q9BX63	p.Val193Ile	RCV000119142	missense variant	Familial cancer of breast	NC_000017.11:g.61847151C>T	ClinVar
BRIP1	Q9BX63	p.Leu195Phe	rs1555615749	missense variant	-	NC_000017.11:g.61847145G>A	-
BRIP1	Q9BX63	p.Leu195Ter	RCV000572875	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847144_61847145del	ClinVar
BRIP1	Q9BX63	p.Leu195Phe	RCV000579537	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847145G>A	ClinVar
BRIP1	Q9BX63	p.Leu195Pro	RCV000120407	missense variant	-	NC_000017.11:g.61847144A>G	ClinVar
BRIP1	Q9BX63	p.Leu195Pro	rs4988347	missense variant	-	NC_000017.11:g.61847144A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu195Pro	RCV000123361	missense variant	Familial cancer of breast	NC_000017.11:g.61847144A>G	ClinVar
BRIP1	Q9BX63	p.Asn196Ser	RCV000116163	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847141T>C	ClinVar
BRIP1	Q9BX63	p.Asn196Lys	rs758851721	missense variant	-	NC_000017.11:g.61847140G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn196Ser	rs550707862	missense variant	-	NC_000017.11:g.61847141T>C	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser197Cys	rs533184563	missense variant	-	NC_000017.11:g.61847138G>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser197Pro	rs530897769	missense variant	-	NC_000017.11:g.61847139A>G	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Ser197Cys	RCV000219578	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847138G>C	ClinVar
BRIP1	Q9BX63	p.Ser197Phe	RCV000825289	missense variant	-	NC_000017.11:g.61847138G>A	ClinVar
BRIP1	Q9BX63	p.Ser197Tyr	RCV000707127	missense variant	Familial cancer of breast	NC_000017.11:g.61847138G>T	ClinVar
BRIP1	Q9BX63	p.Ser197Phe	RCV000235300	missense variant	-	NC_000017.11:g.61847138G>A	ClinVar
BRIP1	Q9BX63	p.Ser197Tyr	rs533184563	missense variant	-	NC_000017.11:g.61847138G>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser197Phe	rs533184563	missense variant	-	NC_000017.11:g.61847138G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser197Phe	RCV000198544	missense variant	Familial cancer of breast	NC_000017.11:g.61847138G>A	ClinVar
BRIP1	Q9BX63	p.Ser197Phe	RCV000131156	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847138G>A	ClinVar
BRIP1	Q9BX63	p.Ser197Tyr	RCV000216053	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847138G>T	ClinVar
BRIP1	Q9BX63	p.Glu200Gly	rs1555615732	missense variant	-	NC_000017.11:g.61847129T>C	-
BRIP1	Q9BX63	p.Glu200Gly	RCV000539257	missense variant	Familial cancer of breast	NC_000017.11:g.61847129T>C	ClinVar
BRIP1	Q9BX63	p.Lys201Arg	rs1555615729	missense variant	-	NC_000017.11:g.61847126T>C	-
BRIP1	Q9BX63	p.Lys201Arg	RCV000555283	missense variant	Familial cancer of breast	NC_000017.11:g.61847126T>C	ClinVar
BRIP1	Q9BX63	p.Lys201Glu	rs1484783363	missense variant	-	NC_000017.11:g.61847127T>C	gnomAD
BRIP1	Q9BX63	p.Ile202Val	rs778275257	missense variant	-	NC_000017.11:g.61847124T>C	TOPMed
BRIP1	Q9BX63	p.Ile202Val	RCV000573114	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847124T>C	ClinVar
BRIP1	Q9BX63	p.Ile202Val	RCV000469045	missense variant	Familial cancer of breast	NC_000017.11:g.61847124T>C	ClinVar
BRIP1	Q9BX63	p.Ser204Phe	rs776372251	missense variant	-	NC_000017.11:g.61847117G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser204Ala	RCV000636121	missense variant	Familial cancer of breast	NC_000017.11:g.61847118A>C	ClinVar
BRIP1	Q9BX63	p.Ser204Ala	rs761401027	missense variant	-	NC_000017.11:g.61847118A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser204Ala	RCV000220255	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847118A>C	ClinVar
BRIP1	Q9BX63	p.Ser206Leu	rs565458815	missense variant	-	NC_000017.11:g.61847111G>A	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ser206Leu	RCV000222015	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847111G>A	ClinVar
BRIP1	Q9BX63	p.Ser206Leu	rs565458815	missense variant	-	NC_000017.11:g.61847111G>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro207Ser	rs775636640	missense variant	-	NC_000017.11:g.61847109G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Gln208Glu	rs1443511163	missense variant	-	NC_000017.11:g.61847106G>C	TOPMed
BRIP1	Q9BX63	p.Lys209Arg	RCV000464761	missense variant	Familial cancer of breast	NC_000017.11:g.61847102T>C	ClinVar
BRIP1	Q9BX63	p.Lys209Arg	RCV000220042	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61847102T>C	ClinVar
BRIP1	Q9BX63	p.Lys209Arg	rs748912293	missense variant	-	NC_000017.11:g.61847102T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro210His	RCV000465031	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808756G>T	ClinVar
BRIP1	Q9BX63	p.Pro210His	RCV000213204	missense variant	-	NC_000017.11:g.61808756G>T	ClinVar
BRIP1	Q9BX63	p.Pro210Ser	rs150313156	missense variant	-	NC_000017.11:g.61808757G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro210Leu	rs140097800	missense variant	-	NC_000017.11:g.61808756G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro210His	rs140097800	missense variant	-	NC_000017.11:g.61808756G>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro210Leu	RCV000773238	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808756G>A	ClinVar
BRIP1	Q9BX63	p.Pro210His	RCV000709560	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808756G>T	ClinVar
BRIP1	Q9BX63	p.Pro210His	RCV000214330	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808756G>T	ClinVar
BRIP1	Q9BX63	p.Pro210Ser	RCV000590600	missense variant	-	NC_000017.11:g.61808757G>A	ClinVar
BRIP1	Q9BX63	p.Pro210Leu	RCV000636068	missense variant	Familial cancer of breast	NC_000017.11:g.61808756G>A	ClinVar
BRIP1	Q9BX63	p.Pro211Ter	RCV000463454	frameshift	Familial cancer of breast	NC_000017.11:g.61808757del	ClinVar
BRIP1	Q9BX63	p.Pro211Leu	RCV000759714	missense variant	-	NC_000017.11:g.61808753G>A	ClinVar
BRIP1	Q9BX63	p.Pro211Leu	RCV000531438	missense variant	Familial cancer of breast	NC_000017.11:g.61808753G>A	ClinVar
BRIP1	Q9BX63	p.Pro211Leu	RCV000776532	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808753G>A	ClinVar
BRIP1	Q9BX63	p.Pro211Leu	rs780026145	missense variant	-	NC_000017.11:g.61808753G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly212Ser	rs1555609387	missense variant	-	NC_000017.11:g.61808751C>T	-
BRIP1	Q9BX63	p.Gly212Ter	RCV000706262	frameshift	Familial cancer of breast	NC_000017.11:g.61808752del	ClinVar
BRIP1	Q9BX63	p.Gly212Ter	RCV000657273	frameshift	-	NC_000017.11:g.61808752del	ClinVar
BRIP1	Q9BX63	p.Gly212Ter	RCV000215252	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808752del	ClinVar
BRIP1	Q9BX63	p.Gly212Ser	RCV000584189	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808751C>T	ClinVar
BRIP1	Q9BX63	p.Gly212Ter	RCV000657344	frameshift	-	NC_000017.11:g.61808757dup	ClinVar
BRIP1	Q9BX63	p.His213Tyr	rs772140734	missense variant	-	NC_000017.11:g.61808748G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.His213Arg	RCV000166239	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808747T>C	ClinVar
BRIP1	Q9BX63	p.His213Arg	RCV000217577	missense variant	-	NC_000017.11:g.61808747T>C	ClinVar
BRIP1	Q9BX63	p.His213Arg	rs376760085	missense variant	-	NC_000017.11:g.61808747T>C	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.His213Arg	RCV000205783	missense variant	Familial cancer of breast	NC_000017.11:g.61808747T>C	ClinVar
BRIP1	Q9BX63	p.Cys214Ser	RCV000636165	missense variant	Familial cancer of breast	NC_000017.11:g.61808744C>G	ClinVar
BRIP1	Q9BX63	p.Cys214Ser	RCV000575253	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808744C>G	ClinVar
BRIP1	Q9BX63	p.Cys214Ser	rs779409059	missense variant	-	NC_000017.11:g.61808744C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser215Tyr	rs12947398	missense variant	-	NC_000017.11:g.61808741G>T	gnomAD
BRIP1	Q9BX63	p.Ser215Phe	rs12947398	missense variant	-	NC_000017.11:g.61808741G>A	gnomAD
BRIP1	Q9BX63	p.Ser215Phe	RCV000216172	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808741G>A	ClinVar
BRIP1	Q9BX63	p.Ser215Phe	RCV000464882	missense variant	Familial cancer of breast	NC_000017.11:g.61808741G>A	ClinVar
BRIP1	Q9BX63	p.Cys217Phe	rs587782156	missense variant	-	NC_000017.11:g.61808735C>A	-
BRIP1	Q9BX63	p.Cys217Phe	RCV000475279	missense variant	Familial cancer of breast	NC_000017.11:g.61808735C>A	ClinVar
BRIP1	Q9BX63	p.Cys217Phe	RCV000130737	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808735C>A	ClinVar
BRIP1	Q9BX63	p.Cys218Tyr	RCV000479866	missense variant	-	NC_000017.11:g.61808732C>T	ClinVar
BRIP1	Q9BX63	p.Cys218Tyr	RCV000580267	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808732C>T	ClinVar
BRIP1	Q9BX63	p.Cys218Tyr	RCV000461921	missense variant	Familial cancer of breast	NC_000017.11:g.61808732C>T	ClinVar
BRIP1	Q9BX63	p.Cys218Tyr	rs754242563	missense variant	-	NC_000017.11:g.61808732C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Cys219Arg	RCV000410746	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808730A>G	ClinVar
BRIP1	Q9BX63	p.Cys219Arg	RCV000214329	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808730A>G	ClinVar
BRIP1	Q9BX63	p.Cys219Arg	RCV000228414	missense variant	Familial cancer of breast	NC_000017.11:g.61808730A>G	ClinVar
BRIP1	Q9BX63	p.Cys219Arg	RCV000160331	missense variant	-	NC_000017.11:g.61808730A>G	ClinVar
BRIP1	Q9BX63	p.Cys219Arg	RCV000412358	missense variant	Neoplasm of ovary	NC_000017.11:g.61808730A>G	ClinVar
BRIP1	Q9BX63	p.Cys219Tyr	RCV000130939	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808729C>T	ClinVar
BRIP1	Q9BX63	p.Cys219Tyr	rs587782238	missense variant	-	NC_000017.11:g.61808729C>T	TOPMed
BRIP1	Q9BX63	p.Cys219Arg	rs730881630	missense variant	-	NC_000017.11:g.61808730A>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser220Pro	rs1555609351	missense variant	-	NC_000017.11:g.61808727A>G	-
BRIP1	Q9BX63	p.Ser220Pro	RCV000574313	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808727A>G	ClinVar
BRIP1	Q9BX63	p.Ser220Phe	rs1357803255	missense variant	-	NC_000017.11:g.61808726G>A	gnomAD
BRIP1	Q9BX63	p.Thr221Ser	rs373774920	missense variant	-	NC_000017.11:g.61808723G>C	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Thr221Ala	RCV000457055	missense variant	Familial cancer of breast	NC_000017.11:g.61808724T>C	ClinVar
BRIP1	Q9BX63	p.Thr221Ala	RCV000563866	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808724T>C	ClinVar
BRIP1	Q9BX63	p.Thr221Ala	rs777618772	missense variant	-	NC_000017.11:g.61808724T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln223Arg	RCV000167128	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808717T>C	ClinVar
BRIP1	Q9BX63	p.Gln223Ter	RCV000164174	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808718G>A	ClinVar
BRIP1	Q9BX63	p.Gln223Ter	rs786201733	stop gained	-	NC_000017.11:g.61808718G>A	-
BRIP1	Q9BX63	p.Gln223Arg	rs786203708	missense variant	-	NC_000017.11:g.61808717T>C	TOPMed
BRIP1	Q9BX63	p.Gly224Ala	RCV000636123	missense variant	Familial cancer of breast	NC_000017.11:g.61808714C>G	ClinVar
BRIP1	Q9BX63	p.Gly224Arg	RCV000704993	missense variant	Familial cancer of breast	NC_000017.11:g.61808715C>G	ClinVar
BRIP1	Q9BX63	p.Gly224Ala	rs990737815	missense variant	-	NC_000017.11:g.61808714C>G	gnomAD
BRIP1	Q9BX63	p.Gly224Ala	RCV000709559	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808714C>G	ClinVar
BRIP1	Q9BX63	p.Gly224Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61808715C>A	NCI-TCGA
BRIP1	Q9BX63	p.Gly224Ala	RCV000583227	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808714C>G	ClinVar
BRIP1	Q9BX63	p.Asn225Ser	RCV000774387	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808711T>C	ClinVar
BRIP1	Q9BX63	p.Gln227Glu	RCV000411595	missense variant	Neoplasm of ovary	NC_000017.11:g.61808706G>C	ClinVar
BRIP1	Q9BX63	p.Gln227Glu	RCV000410552	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808706G>C	ClinVar
BRIP1	Q9BX63	p.Gln227Glu	RCV000196200	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808706G>C	ClinVar
BRIP1	Q9BX63	p.Gln227Glu	rs45459799	missense variant	-	NC_000017.11:g.61808706G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln227Ter	COSM1563714	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61808706G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ser230Leu	rs759031349	missense variant	-	NC_000017.11:g.61808696G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser230Leu	RCV000386668	missense variant	-	NC_000017.11:g.61808696G>A	ClinVar
BRIP1	Q9BX63	p.Ser230Leu	RCV000409005	missense variant	Neoplasm of ovary	NC_000017.11:g.61808696G>A	ClinVar
BRIP1	Q9BX63	p.Ser230Leu	RCV000411446	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808696G>A	ClinVar
BRIP1	Q9BX63	p.Ser230Leu	rs759031349	missense variant	-	NC_000017.11:g.61808696G>A	NCI-TCGA
BRIP1	Q9BX63	p.Asn231Asp	rs766340391	missense variant	-	NC_000017.11:g.61808694T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Asn231Ser	RCV000774985	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808693T>C	ClinVar
BRIP1	Q9BX63	p.Thr232Ser	rs762781085	missense variant	-	NC_000017.11:g.61808690G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile233Val	RCV000781172	missense variant	-	NC_000017.11:g.61808688T>C	ClinVar
BRIP1	Q9BX63	p.Ile233Val	RCV000810321	missense variant	Familial cancer of breast	NC_000017.11:g.61808688T>C	ClinVar
BRIP1	Q9BX63	p.Ile233Val	RCV000581649	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808688T>C	ClinVar
BRIP1	Q9BX63	p.Ile233Val	rs769535320	missense variant	-	NC_000017.11:g.61808688T>C	ExAC
BRIP1	Q9BX63	p.Lys234Glu	rs1060501780	missense variant	-	NC_000017.11:g.61808685T>C	-
BRIP1	Q9BX63	p.Lys234Arg	rs587780834	missense variant	-	NC_000017.11:g.61808684T>C	-
BRIP1	Q9BX63	p.Lys234Arg	RCV000123364	missense variant	Familial cancer of breast	NC_000017.11:g.61808684T>C	ClinVar
BRIP1	Q9BX63	p.Lys234Glu	RCV000471622	missense variant	Familial cancer of breast	NC_000017.11:g.61808685T>C	ClinVar
BRIP1	Q9BX63	p.Asp236His	rs1555609300	missense variant	-	NC_000017.11:g.61808679C>G	-
BRIP1	Q9BX63	p.Asp236Val	RCV000696777	missense variant	Familial cancer of breast	NC_000017.11:g.61808678T>A	ClinVar
BRIP1	Q9BX63	p.Asp236His	RCV000636145	missense variant	Familial cancer of breast	NC_000017.11:g.61808679C>G	ClinVar
BRIP1	Q9BX63	p.His237Arg	RCV000777338	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808675T>C	ClinVar
BRIP1	Q9BX63	p.His237Ter	RCV000568156	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808677dup	ClinVar
BRIP1	Q9BX63	p.Thr238Ile	RCV000567919	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808672G>A	ClinVar
BRIP1	Q9BX63	p.Thr238Ala	RCV000636118	missense variant	Familial cancer of breast	NC_000017.11:g.61808673T>C	ClinVar
BRIP1	Q9BX63	p.Thr238Ala	rs1490001091	missense variant	-	NC_000017.11:g.61808673T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr238Ile	rs745955726	missense variant	-	NC_000017.11:g.61808672G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr238Pro	rs1490001091	missense variant	-	NC_000017.11:g.61808673T>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr238Pro	RCV000777190	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808673T>G	ClinVar
BRIP1	Q9BX63	p.Thr238Pro	RCV000532810	missense variant	Familial cancer of breast	NC_000017.11:g.61808673T>G	ClinVar
BRIP1	Q9BX63	p.Thr238Ile	rs745955726	missense variant	-	NC_000017.11:g.61808672G>A	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Lys240Thr	rs1350322711	missense variant	-	NC_000017.11:g.61808666T>G	gnomAD
BRIP1	Q9BX63	p.Lys240Ter	RCV000709558	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808667del	ClinVar
BRIP1	Q9BX63	p.Ser241Pro	RCV000561737	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808664A>G	ClinVar
BRIP1	Q9BX63	p.Ser241Pro	rs771542690	missense variant	-	NC_000017.11:g.61808664A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Lys242Arg	RCV000222563	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808660T>C	ClinVar
BRIP1	Q9BX63	p.Lys242Arg	RCV000545432	missense variant	Familial cancer of breast	NC_000017.11:g.61808660T>C	ClinVar
BRIP1	Q9BX63	p.Lys242Arg	rs876660647	missense variant	-	NC_000017.11:g.61808660T>C	-
BRIP1	Q9BX63	p.Ile243Thr	rs587781860	missense variant	-	NC_000017.11:g.61808657A>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile243Thr	RCV000473070	missense variant	Familial cancer of breast	NC_000017.11:g.61808657A>G	ClinVar
BRIP1	Q9BX63	p.Ile243Thr	RCV000709557	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808657A>G	ClinVar
BRIP1	Q9BX63	p.Ile243Thr	RCV000484934	missense variant	-	NC_000017.11:g.61808657A>G	ClinVar
BRIP1	Q9BX63	p.Lys245Arg	rs1064795594	missense variant	-	NC_000017.11:g.61808651T>C	-
BRIP1	Q9BX63	p.Lys245Arg	RCV000480350	missense variant	-	NC_000017.11:g.61808651T>C	ClinVar
BRIP1	Q9BX63	p.Ile246Val	RCV000580310	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808649T>C	ClinVar
BRIP1	Q9BX63	p.Ile246Val	rs376893571	missense variant	-	NC_000017.11:g.61808649T>C	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile246Val	RCV000759716	missense variant	-	NC_000017.11:g.61808649T>C	ClinVar
BRIP1	Q9BX63	p.Ile246Val	RCV000534123	missense variant	Familial cancer of breast	NC_000017.11:g.61808649T>C	ClinVar
BRIP1	Q9BX63	p.Tyr247Cys	rs756499865	missense variant	-	NC_000017.11:g.61808645T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr250Arg	RCV000568986	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808636G>C	ClinVar
BRIP1	Q9BX63	p.Thr250Ile	RCV000777113	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808636G>A	ClinVar
BRIP1	Q9BX63	p.Thr250Ter	RCV000708607	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808640del	ClinVar
BRIP1	Q9BX63	p.Thr250Arg	RCV000550168	missense variant	Familial cancer of breast	NC_000017.11:g.61808636G>C	ClinVar
BRIP1	Q9BX63	p.Thr250Arg	rs1555609275	missense variant	-	NC_000017.11:g.61808636G>C	-
BRIP1	Q9BX63	p.Arg251Cys	rs752309409	missense variant	-	NC_000017.11:g.61808634G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg251His	RCV000222495	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808633C>T	ClinVar
BRIP1	Q9BX63	p.Arg251Cys	RCV000662796	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808634G>A	ClinVar
BRIP1	Q9BX63	p.Arg251Cys	RCV000206065	missense variant	Familial cancer of breast	NC_000017.11:g.61808634G>A	ClinVar
BRIP1	Q9BX63	p.Arg251His	RCV000280552	missense variant	-	NC_000017.11:g.61808633C>T	ClinVar
BRIP1	Q9BX63	p.Arg251Pro	RCV000558153	missense variant	Familial cancer of breast	NC_000017.11:g.61808633C>G	ClinVar
BRIP1	Q9BX63	p.Arg251His	RCV000692424	missense variant	Familial cancer of breast	NC_000017.11:g.61808633C>T	ClinVar
BRIP1	Q9BX63	p.Arg251His	rs780834054	missense variant	-	NC_000017.11:g.61808633C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg251Pro	rs780834054	missense variant	-	NC_000017.11:g.61808633C>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg251His	rs780834054	missense variant	-	NC_000017.11:g.61808633C>T	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Thr252Ile	RCV000690782	missense variant	Familial cancer of breast	NC_000017.11:g.61808630G>A	ClinVar
BRIP1	Q9BX63	p.Thr252Ala	RCV000772461	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808631T>C	ClinVar
BRIP1	Q9BX63	p.Lys254Glu	rs1156469750	missense variant	-	NC_000017.11:g.61808625T>C	gnomAD
BRIP1	Q9BX63	p.Gln255Arg	RCV000771405	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808621T>C	ClinVar
BRIP1	Q9BX63	p.Gln255Arg	RCV000695058	missense variant	Familial cancer of breast	NC_000017.11:g.61808621T>C	ClinVar
BRIP1	Q9BX63	p.Gln255His	VAR_023700	Missense	Fanconi anemia complementation group J (FANCJ) [MIM:609054]	-	UniProt
BRIP1	Q9BX63	p.Ala257Gly	RCV000562513	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808615G>C	ClinVar
BRIP1	Q9BX63	p.Ala257Ser	rs754515912	missense variant	-	NC_000017.11:g.61808616C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala257Gly	rs1555609260	missense variant	-	NC_000017.11:g.61808615G>C	-
BRIP1	Q9BX63	p.Gln258Glu	rs1555609257	missense variant	-	NC_000017.11:g.61808613G>C	-
BRIP1	Q9BX63	p.Gln258Glu	RCV000498236	missense variant	-	NC_000017.11:g.61808613G>C	ClinVar
BRIP1	Q9BX63	p.Gln258His	rs1198536492	missense variant	-	NC_000017.11:g.61808611C>G	TOPMed
BRIP1	Q9BX63	p.Gln258Pro	RCV000702738	missense variant	Familial cancer of breast	NC_000017.11:g.61808612T>G	ClinVar
BRIP1	Q9BX63	p.Gln258His	RCV000581143	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808611C>G	ClinVar
BRIP1	Q9BX63	p.Thr260Ala	rs138743097	missense variant	-	NC_000017.11:g.61808607T>C	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr260Ala	RCV000160362	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808607T>C	ClinVar
BRIP1	Q9BX63	p.Thr260Ter	RCV000553186	frameshift	Familial cancer of breast	NC_000017.11:g.61808609dup	ClinVar
BRIP1	Q9BX63	p.Arg261Ser	RCV000773361	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808602T>A	ClinVar
BRIP1	Q9BX63	p.Glu262Asp	RCV000216224	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808599C>G	ClinVar
BRIP1	Q9BX63	p.Glu262Ala	RCV000470570	missense variant	Familial cancer of breast	NC_000017.11:g.61808600T>G	ClinVar
BRIP1	Q9BX63	p.Glu262Ala	RCV000221058	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808600T>G	ClinVar
BRIP1	Q9BX63	p.Glu262Ala	rs876658283	missense variant	-	NC_000017.11:g.61808600T>G	TOPMed
BRIP1	Q9BX63	p.Glu262Asp	rs876658312	missense variant	-	NC_000017.11:g.61808599C>G	-
BRIP1	Q9BX63	p.Leu263Phe	RCV000663200	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808598G>A	ClinVar
BRIP1	Q9BX63	p.Leu263Val	rs1060501776	missense variant	-	NC_000017.11:g.61808598G>C	gnomAD
BRIP1	Q9BX63	p.Leu263Phe	rs1060501776	missense variant	-	NC_000017.11:g.61808598G>A	gnomAD
BRIP1	Q9BX63	p.Leu263Val	RCV000579965	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808598G>C	ClinVar
BRIP1	Q9BX63	p.Leu263Phe	RCV000467138	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808598G>A	ClinVar
BRIP1	Q9BX63	p.Leu263Phe	RCV000775746	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808598G>A	ClinVar
BRIP1	Q9BX63	p.Arg264Gln	RCV000551521	missense variant	Familial cancer of breast	NC_000017.11:g.61808594C>T	ClinVar
BRIP1	Q9BX63	p.Arg264Gly	rs28997569	missense variant	-	NC_000017.11:g.61808595G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg264Gln	RCV000572564	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808594C>T	ClinVar
BRIP1	Q9BX63	p.Arg264Trp	RCV000515771	missense variant	Familial cancer of breast	NC_000017.11:g.61808595G>A	ClinVar
BRIP1	Q9BX63	p.Arg264Trp	RCV000123366	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808595G>A	ClinVar
BRIP1	Q9BX63	p.Arg264Trp	RCV000409223	missense variant	Neoplasm of ovary	NC_000017.11:g.61808595G>A	ClinVar
BRIP1	Q9BX63	p.Arg264Trp	RCV000120409	missense variant	-	NC_000017.11:g.61808595G>A	ClinVar
BRIP1	Q9BX63	p.Arg264Trp	RCV000679792	missense variant	-	NC_000017.11:g.61808595G>A	ClinVar
BRIP1	Q9BX63	p.Arg264Gly	RCV000636169	missense variant	Familial cancer of breast	NC_000017.11:g.61808595G>C	ClinVar
BRIP1	Q9BX63	p.Arg264Gln	rs758360637	missense variant	-	NC_000017.11:g.61808594C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg264Trp	rs28997569	missense variant	-	NC_000017.11:g.61808595G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg264Trp	rs28997569	missense variant	-	NC_000017.11:g.61808595G>A	UniProt,dbSNP
BRIP1	Q9BX63	p.Arg264Trp	VAR_023701	missense variant	-	NC_000017.11:g.61808595G>A	UniProt
BRIP1	Q9BX63	p.Arg264Trp	RCV000116164	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808595G>A	ClinVar
BRIP1	Q9BX63	p.Arg264Trp	RCV000411226	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808595G>A	ClinVar
BRIP1	Q9BX63	p.Arg264Trp	rs28997569	missense variant	-	NC_000017.11:g.61808595G>A	NCI-TCGA
BRIP1	Q9BX63	p.Arg265Trp	rs876659650	missense variant	-	NC_000017.11:g.61808592T>A	gnomAD
BRIP1	Q9BX63	p.Arg265Gly	rs876659650	missense variant	-	NC_000017.11:g.61808592T>C	gnomAD
BRIP1	Q9BX63	p.Arg265Trp	RCV000223409	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808592T>A	ClinVar
BRIP1	Q9BX63	p.Thr266Met	rs550031006	missense variant	-	NC_000017.11:g.61808588G>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr266Met	RCV000198777	missense variant	Familial cancer of breast	NC_000017.11:g.61808588G>A	ClinVar
BRIP1	Q9BX63	p.Thr266Met	RCV000662521	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808588G>A	ClinVar
BRIP1	Q9BX63	p.Thr266Met	RCV000448094	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808588G>A	ClinVar
BRIP1	Q9BX63	p.Thr266Met	RCV000116165	missense variant	-	NC_000017.11:g.61808588G>A	ClinVar
BRIP1	Q9BX63	p.Ala267Val	RCV000160332	missense variant	-	NC_000017.11:g.61808585G>A	ClinVar
BRIP1	Q9BX63	p.Ala267Val	rs730881631	missense variant	-	NC_000017.11:g.61808585G>A	-
BRIP1	Q9BX63	p.Ala267Thr	RCV000228879	missense variant	Familial cancer of breast	NC_000017.11:g.61808586C>T	ClinVar
BRIP1	Q9BX63	p.Ala267Thr	RCV000580349	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808586C>T	ClinVar
BRIP1	Q9BX63	p.Ala267Thr	rs865910081	missense variant	-	NC_000017.11:g.61808586C>T	gnomAD
BRIP1	Q9BX63	p.Tyr268Ter	RCV000131664	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808581A>C	ClinVar
BRIP1	Q9BX63	p.Tyr268Ter	rs587782514	stop gained	-	NC_000017.11:g.61808581A>C	-
BRIP1	Q9BX63	p.Tyr268Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61808582T>A	NCI-TCGA
BRIP1	Q9BX63	p.Ser269Leu	rs1412610651	missense variant	-	NC_000017.11:g.61808579G>A	gnomAD
BRIP1	Q9BX63	p.Ser269Ter	rs1412610651	stop gained	-	NC_000017.11:g.61808579G>C	gnomAD
BRIP1	Q9BX63	p.Ser269Leu	RCV000575290	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808579G>A	ClinVar
BRIP1	Q9BX63	p.Gly270Ter	RCV000583047	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808578dup	ClinVar
BRIP1	Q9BX63	p.Gly270Trp	RCV000636135	missense variant	Familial cancer of breast	NC_000017.11:g.61808577C>A	ClinVar
BRIP1	Q9BX63	p.Gly270Trp	rs1401241698	missense variant	-	NC_000017.11:g.61808577C>A	gnomAD
BRIP1	Q9BX63	p.Gly270Arg	COSM1147837	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61808577C>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Pro272Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61808571G>A	NCI-TCGA
BRIP1	Q9BX63	p.Met273Leu	rs587781797	missense variant	-	NC_000017.11:g.61808568T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Met273Leu	RCV000130060	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808568T>G	ClinVar
BRIP1	Q9BX63	p.Met273Leu	RCV000804460	missense variant	Familial cancer of breast	NC_000017.11:g.61808568T>G	ClinVar
BRIP1	Q9BX63	p.Thr274Ala	rs62620988	missense variant	-	NC_000017.11:g.61808565T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr274Ala	RCV000588437	missense variant	-	NC_000017.11:g.61808565T>C	ClinVar
BRIP1	Q9BX63	p.Ile275Val	rs587781425	missense variant	-	NC_000017.11:g.61808562T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile275Val	RCV000485268	missense variant	-	NC_000017.11:g.61808562T>C	ClinVar
BRIP1	Q9BX63	p.Ile275Val	RCV000129307	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808562T>C	ClinVar
BRIP1	Q9BX63	p.Ile275Val	RCV000663199	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808562T>C	ClinVar
BRIP1	Q9BX63	p.Ile275Val	RCV000473432	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808562T>C	ClinVar
BRIP1	Q9BX63	p.Leu276Pro	rs1405765260	missense variant	-	NC_000017.11:g.61808558A>G	TOPMed
BRIP1	Q9BX63	p.Ser278Arg	RCV000688523	missense variant	Familial cancer of breast	NC_000017.11:g.61808553T>G	ClinVar
BRIP1	Q9BX63	p.Arg279Ser	RCV000478189	missense variant	-	NC_000017.11:g.61808548C>G	ClinVar
BRIP1	Q9BX63	p.Arg279Ser	RCV000584712	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808548C>A	ClinVar
BRIP1	Q9BX63	p.Arg279Ser	RCV000568517	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808548C>G	ClinVar
BRIP1	Q9BX63	p.Arg279Ser	RCV000636146	missense variant	Familial cancer of breast	NC_000017.11:g.61808548C>A	ClinVar
BRIP1	Q9BX63	p.Arg279Ser	rs759584091	missense variant	-	NC_000017.11:g.61808548C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg279Ser	rs759584091	missense variant	-	NC_000017.11:g.61808548C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp280Gly	rs1555609193	missense variant	-	NC_000017.11:g.61808546T>C	-
BRIP1	Q9BX63	p.Asp280Gly	RCV000572797	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808546T>C	ClinVar
BRIP1	Q9BX63	p.Asp280Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61808547C>T	NCI-TCGA
BRIP1	Q9BX63	p.His281Tyr	rs1064795442	missense variant	-	NC_000017.11:g.61808544G>A	-
BRIP1	Q9BX63	p.His281Asn	RCV000540266	missense variant	Familial cancer of breast	NC_000017.11:g.61808544G>T	ClinVar
BRIP1	Q9BX63	p.His281Asn	rs1064795442	missense variant	-	NC_000017.11:g.61808544G>T	-
BRIP1	Q9BX63	p.His281Tyr	RCV000478559	missense variant	-	NC_000017.11:g.61808544G>A	ClinVar
BRIP1	Q9BX63	p.Thr282Ile	rs45624635	missense variant	-	NC_000017.11:g.61808540G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr282Ser	rs45624635	missense variant	-	NC_000017.11:g.61808540G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr282Ile	RCV000636116	missense variant	Familial cancer of breast	NC_000017.11:g.61808540G>A	ClinVar
BRIP1	Q9BX63	p.Thr282Ser	RCV000693086	missense variant	Familial cancer of breast	NC_000017.11:g.61808540G>C	ClinVar
BRIP1	Q9BX63	p.Thr282Ser	RCV000116166	missense variant	-	NC_000017.11:g.61808540G>C	ClinVar
BRIP1	Q9BX63	p.Thr282Ser	RCV000220423	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808540G>C	ClinVar
BRIP1	Q9BX63	p.Cys283Tyr	rs771096783	missense variant	-	NC_000017.11:g.61808537C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Cys283Phe	RCV000636186	missense variant	Familial cancer of breast	NC_000017.11:g.61808537C>A	ClinVar
BRIP1	Q9BX63	p.Cys283Arg	RCV000561442	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808538A>G	ClinVar
BRIP1	Q9BX63	p.Cys283Phe	rs771096783	missense variant	-	NC_000017.11:g.61808537C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Cys283Arg	rs1555609186	missense variant	-	NC_000017.11:g.61808538A>G	-
BRIP1	Q9BX63	p.His285Arg	rs141055990	missense variant	-	NC_000017.11:g.61808531T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.His285Arg	RCV000781177	missense variant	-	NC_000017.11:g.61808531T>C	ClinVar
BRIP1	Q9BX63	p.Pro286Ser	rs770289817	missense variant	-	NC_000017.11:g.61808529G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu287Lys	rs1309409845	missense variant	-	NC_000017.11:g.61808526C>T	TOPMed
BRIP1	Q9BX63	p.Val288Ala	rs1375475281	missense variant	-	NC_000017.11:g.61808522A>G	TOPMed
BRIP1	Q9BX63	p.Val289Ter	RCV000205570	frameshift	Familial cancer of breast	NC_000017.11:g.61808519del	ClinVar
BRIP1	Q9BX63	p.Val289Ile	RCV000695772	missense variant	Familial cancer of breast	NC_000017.11:g.61808520C>T	ClinVar
BRIP1	Q9BX63	p.Gly290Ser	rs145601931	missense variant	-	NC_000017.11:g.61808517C>T	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Gly290Ala	rs148556781	missense variant	-	NC_000017.11:g.61808516C>G	ESP,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly290Ala	RCV000575179	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808516C>G	ClinVar
BRIP1	Q9BX63	p.Gly290Asp	rs148556781	missense variant	-	NC_000017.11:g.61808516C>T	ESP,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly290Ser	rs145601931	missense variant	-	NC_000017.11:g.61808517C>T	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Gly290Asp	RCV000567295	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808516C>T	ClinVar
BRIP1	Q9BX63	p.Gly290Ser	RCV000823332	missense variant	Familial cancer of breast	NC_000017.11:g.61808517C>T	ClinVar
BRIP1	Q9BX63	p.Gly290Ser	RCV000484748	missense variant	-	NC_000017.11:g.61808517C>T	ClinVar
BRIP1	Q9BX63	p.Gly290Asp	RCV000795649	missense variant	Familial cancer of breast	NC_000017.11:g.61808516C>T	ClinVar
BRIP1	Q9BX63	p.Gly290Ser	RCV000775425	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808517C>T	ClinVar
BRIP1	Q9BX63	p.Phe292Ter	RCV000805607	frameshift	Familial cancer of breast	NC_000017.11:g.61808509del	ClinVar
BRIP1	Q9BX63	p.Phe292Ter	RCV000565681	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808509del	ClinVar
BRIP1	Q9BX63	p.Asn293Ser	RCV000636175	missense variant	Familial cancer of breast	NC_000017.11:g.61808507T>C	ClinVar
BRIP1	Q9BX63	p.Asn293Ser	RCV000319358	missense variant	-	NC_000017.11:g.61808507T>C	ClinVar
BRIP1	Q9BX63	p.Asn293Ser	RCV000573698	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808507T>C	ClinVar
BRIP1	Q9BX63	p.Asn293Ser	rs746599076	missense variant	-	NC_000017.11:g.61808507T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu296Asp	rs876658249	missense variant	-	NC_000017.11:g.61808497C>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu296Asp	RCV000229608	missense variant	Familial cancer of breast	NC_000017.11:g.61808497C>G	ClinVar
BRIP1	Q9BX63	p.Glu296Asp	RCV000221644	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808497C>G	ClinVar
BRIP1	Q9BX63	p.Glu296Gln	RCV000636125	missense variant	Familial cancer of breast	NC_000017.11:g.61808499C>G	ClinVar
BRIP1	Q9BX63	p.Glu296Ter	RCV000494920	nonsense	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61808499C>A	ClinVar
BRIP1	Q9BX63	p.Glu296Gly	RCV000226821	missense variant	Familial cancer of breast	NC_000017.11:g.61808498T>C	ClinVar
BRIP1	Q9BX63	p.Glu296Gly	RCV000709556	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808498T>C	ClinVar
BRIP1	Q9BX63	p.Glu296Gln	RCV000214417	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808499C>G	ClinVar
BRIP1	Q9BX63	p.Glu296Ter	rs876660125	stop gained	-	NC_000017.11:g.61808499C>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu296Gln	rs876660125	missense variant	-	NC_000017.11:g.61808499C>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu296Gly	rs878855158	missense variant	-	NC_000017.11:g.61808498T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys297Thr	rs28997570	missense variant	-	NC_000017.11:g.61808495T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys297Thr	RCV000636147	missense variant	Familial cancer of breast	NC_000017.11:g.61808495T>G	ClinVar
BRIP1	Q9BX63	p.Lys297Arg	RCV000123367	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808495T>C	ClinVar
BRIP1	Q9BX63	p.Lys297Ter	RCV000232385	frameshift	Familial cancer of breast	NC_000017.11:g.61808494_61808495insA	ClinVar
BRIP1	Q9BX63	p.Lys297Gln	RCV000218444	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808496T>G	ClinVar
BRIP1	Q9BX63	p.Lys297Arg	RCV000412293	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61808495T>C	ClinVar
BRIP1	Q9BX63	p.Lys297Arg	RCV000410013	missense variant	Neoplasm of ovary	NC_000017.11:g.61808495T>C	ClinVar
BRIP1	Q9BX63	p.Lys297Gln	rs876658528	missense variant	-	NC_000017.11:g.61808496T>G	-
BRIP1	Q9BX63	p.Lys297Arg	rs28997570	missense variant	-	NC_000017.11:g.61808495T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys297Arg	RCV000120408	missense variant	-	NC_000017.11:g.61808495T>C	ClinVar
BRIP1	Q9BX63	p.Lys297Thr	RCV000580683	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808495T>G	ClinVar
BRIP1	Q9BX63	p.Cys298Arg	rs1555609145	missense variant	-	NC_000017.11:g.61808493A>G	-
BRIP1	Q9BX63	p.Cys298Phe	rs1555609140	missense variant	-	NC_000017.11:g.61808492C>A	-
BRIP1	Q9BX63	p.Cys298Phe	RCV000569676	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808492C>A	ClinVar
BRIP1	Q9BX63	p.Cys298Arg	RCV000566586	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808493A>G	ClinVar
BRIP1	Q9BX63	p.Met299Leu	rs1242769076	missense variant	-	NC_000017.11:g.61808490T>G	gnomAD
BRIP1	Q9BX63	p.Met299Ile	rs137852985	missense variant	Breast cancer (BC)	NC_000017.11:g.61808488C>T	UniProt,dbSNP
BRIP1	Q9BX63	p.Met299Ile	VAR_020900	missense variant	Breast cancer (BC)	NC_000017.11:g.61808488C>T	UniProt
BRIP1	Q9BX63	p.Met299Ile	RCV000582137	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808488C>T	ClinVar
BRIP1	Q9BX63	p.Met299Ile	RCV000636166	missense variant	Familial cancer of breast	NC_000017.11:g.61808488C>T	ClinVar
BRIP1	Q9BX63	p.Leu301Ser	RCV000565742	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808483A>G	ClinVar
BRIP1	Q9BX63	p.Leu301Ter	RCV000223526	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808482del	ClinVar
BRIP1	Q9BX63	p.Leu301Trp	rs750376292	missense variant	-	NC_000017.11:g.61808483A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu301Ser	rs750376292	missense variant	-	NC_000017.11:g.61808483A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp303Gly	RCV000564768	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808477T>C	ClinVar
BRIP1	Q9BX63	p.Asp303Gly	rs1555609130	missense variant	-	NC_000017.11:g.61808477T>C	-
BRIP1	Q9BX63	p.Gly304Glu	rs1459305482	missense variant	-	NC_000017.11:g.61808474C>T	TOPMed
BRIP1	Q9BX63	p.Gly304Arg	RCV000698356	missense variant	Familial cancer of breast	NC_000017.11:g.61808475C>T	ClinVar
BRIP1	Q9BX63	p.Gly304Glu	rs1459305482	missense variant	-	NC_000017.11:g.61808474C>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asn306Ter	RCV000657409	frameshift	-	NC_000017.11:g.61808472dup	ClinVar
BRIP1	Q9BX63	p.Asn306Ser	RCV000759000	missense variant	-	NC_000017.11:g.61808468T>C	ClinVar
BRIP1	Q9BX63	p.Asn306Ter	RCV000636154	frameshift	Familial cancer of breast	NC_000017.11:g.61808467del	ClinVar
BRIP1	Q9BX63	p.Asn306Ter	RCV000571540	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61808472dup	ClinVar
BRIP1	Q9BX63	p.Ser309Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61801467G>T	NCI-TCGA
BRIP1	Q9BX63	p.Cys310Tyr	RCV000780063	missense variant	-	NC_000017.11:g.61801464C>T	ClinVar
BRIP1	Q9BX63	p.Tyr311Cys	rs587782731	missense variant	-	NC_000017.11:g.61801461T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Tyr311Ter	RCV000662777	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801459_61801462del	ClinVar
BRIP1	Q9BX63	p.Tyr311Ter	RCV000120410	frameshift	-	NC_000017.11:g.61801461del	ClinVar
BRIP1	Q9BX63	p.Tyr311Phe	rs587782731	missense variant	-	NC_000017.11:g.61801461T>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Tyr311Cys	RCV000540504	missense variant	Familial cancer of breast	NC_000017.11:g.61801461T>C	ClinVar
BRIP1	Q9BX63	p.Tyr311Cys	RCV000132228	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801461T>C	ClinVar
BRIP1	Q9BX63	p.Tyr311Phe	RCV000553144	missense variant	Familial cancer of breast	NC_000017.11:g.61801461T>A	ClinVar
BRIP1	Q9BX63	p.Tyr313Ter	rs1436085018	stop gained	-	NC_000017.11:g.61801454A>C	gnomAD
BRIP1	Q9BX63	p.Tyr313Ter	RCV000701553	nonsense	Familial cancer of breast	NC_000017.11:g.61801454A>C	ClinVar
BRIP1	Q9BX63	p.Gly315Val	RCV000776366	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801449C>A	ClinVar
BRIP1	Q9BX63	p.His317Tyr	COSM3890098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801444G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Lys318Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61801440T>G	NCI-TCGA
BRIP1	Q9BX63	p.Ser320Ter	RCV000204964	frameshift	Familial cancer of breast	NC_000017.11:g.61801435del	ClinVar
BRIP1	Q9BX63	p.Ser320Asn	rs746681841	missense variant	-	NC_000017.11:g.61801434C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser320Thr	COSM1153124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801434C>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asp321Glu	RCV000636060	missense variant	Familial cancer of breast	NC_000017.11:g.61801430A>T	ClinVar
BRIP1	Q9BX63	p.Asp321Glu	rs1555607779	missense variant	-	NC_000017.11:g.61801430A>T	-
BRIP1	Q9BX63	p.Gln322Ter	RCV000120411	nonsense	-	NC_000017.11:g.61801429G>A	ClinVar
BRIP1	Q9BX63	p.Gln322Ter	rs587778139	stop gained	-	NC_000017.11:g.61801429G>A	-
BRIP1	Q9BX63	p.Gln322Arg	RCV000774864	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801428T>C	ClinVar
BRIP1	Q9BX63	p.His323Gln	rs1555607775	missense variant	-	NC_000017.11:g.61801424G>T	-
BRIP1	Q9BX63	p.His323Gln	RCV000636114	missense variant	Familial cancer of breast	NC_000017.11:g.61801424G>T	ClinVar
BRIP1	Q9BX63	p.Gln326Lys	rs1555607768	missense variant	-	NC_000017.11:g.61801417G>T	-
BRIP1	Q9BX63	p.Gln326Arg	RCV000482006	missense variant	-	NC_000017.11:g.61801416T>C	ClinVar
BRIP1	Q9BX63	p.Gln326Arg	rs1064794046	missense variant	-	NC_000017.11:g.61801416T>C	-
BRIP1	Q9BX63	p.Gln326Lys	RCV000569079	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801417G>T	ClinVar
BRIP1	Q9BX63	p.Phe328Ser	rs876659057	missense variant	-	NC_000017.11:g.61801410A>G	-
BRIP1	Q9BX63	p.Phe328Ser	RCV000823535	missense variant	Familial cancer of breast	NC_000017.11:g.61801410A>G	ClinVar
BRIP1	Q9BX63	p.Phe328Ser	RCV000217638	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801410A>G	ClinVar
BRIP1	Q9BX63	p.Phe328Leu	RCV000569097	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801411A>G	ClinVar
BRIP1	Q9BX63	p.Phe328Leu	rs1555607763	missense variant	-	NC_000017.11:g.61801411A>G	-
BRIP1	Q9BX63	p.Phe328Ser	rs876659057	missense variant	-	NC_000017.11:g.61801410A>G	NCI-TCGA
BRIP1	Q9BX63	p.Gln329Ter	RCV000582259	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801408_61801409insT	ClinVar
BRIP1	Q9BX63	p.Gln329Arg	rs778863018	missense variant	-	NC_000017.11:g.61801407T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Met331Ile	RCV000116168	missense variant	-	NC_000017.11:g.61801400C>T	ClinVar
BRIP1	Q9BX63	p.Met331Arg	rs587782771	missense variant	-	NC_000017.11:g.61801401A>C	gnomAD
BRIP1	Q9BX63	p.Met331Lys	rs587782771	missense variant	-	NC_000017.11:g.61801401A>T	gnomAD
BRIP1	Q9BX63	p.Met331Leu	rs1380876424	missense variant	-	NC_000017.11:g.61801402T>A	gnomAD
BRIP1	Q9BX63	p.Met331Ile	rs587780252	missense variant	-	NC_000017.11:g.61801400C>T	-
BRIP1	Q9BX63	p.Met331Leu	RCV000575763	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801402T>A	ClinVar
BRIP1	Q9BX63	p.Met331Leu	RCV000709555	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801402T>A	ClinVar
BRIP1	Q9BX63	p.Met331Ile	RCV000771331	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801400C>T	ClinVar
BRIP1	Q9BX63	p.Met331Ile	RCV000636062	missense variant	Familial cancer of breast	NC_000017.11:g.61801400C>T	ClinVar
BRIP1	Q9BX63	p.Met331Leu	RCV000794975	missense variant	Familial cancer of breast	NC_000017.11:g.61801402T>A	ClinVar
BRIP1	Q9BX63	p.Met331Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61801400C>A	NCI-TCGA
BRIP1	Q9BX63	p.Met331Arg	RCV000132300	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801401A>C	ClinVar
BRIP1	Q9BX63	p.Cys332Tyr	RCV000213448	missense variant	-	NC_000017.11:g.61801398C>T	ClinVar
BRIP1	Q9BX63	p.Cys332Tyr	RCV000219492	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801398C>T	ClinVar
BRIP1	Q9BX63	p.Cys332Tyr	RCV000636095	missense variant	Familial cancer of breast	NC_000017.11:g.61801398C>T	ClinVar
BRIP1	Q9BX63	p.Cys332Tyr	rs876660521	missense variant	-	NC_000017.11:g.61801398C>T	gnomAD
BRIP1	Q9BX63	p.Cys332Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61801398C>G	NCI-TCGA
BRIP1	Q9BX63	p.Lys333Glu	rs757196702	missense variant	-	NC_000017.11:g.61801396T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala334Ser	rs535414791	missense variant	-	NC_000017.11:g.61801393C>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala334Ser	RCV000473511	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801393C>A	ClinVar
BRIP1	Q9BX63	p.Ala334Ser	RCV000160333	missense variant	-	NC_000017.11:g.61801393C>A	ClinVar
BRIP1	Q9BX63	p.Ala334Thr	RCV000536267	missense variant	Familial cancer of breast	NC_000017.11:g.61801393C>T	ClinVar
BRIP1	Q9BX63	p.Ala334Thr	RCV000780059	missense variant	-	NC_000017.11:g.61801393C>T	ClinVar
BRIP1	Q9BX63	p.Ala334Thr	rs535414791	missense variant	-	NC_000017.11:g.61801393C>T	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala334Ser	RCV000561620	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801393C>A	ClinVar
BRIP1	Q9BX63	p.Ala334Thr	RCV000219711	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801393C>T	ClinVar
BRIP1	Q9BX63	p.Ala334Ser	RCV000709554	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801393C>A	ClinVar
BRIP1	Q9BX63	p.Ala334Thr	RCV000483340	missense variant	-	NC_000017.11:g.61801393C>T	ClinVar
BRIP1	Q9BX63	p.Trp335Ter	RCV000164287	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801388C>T	ClinVar
BRIP1	Q9BX63	p.Trp335Ter	rs786201808	stop gained	-	NC_000017.11:g.61801388C>T	-
BRIP1	Q9BX63	p.Trp335Ter	RCV000570826	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801389C>T	ClinVar
BRIP1	Q9BX63	p.Trp335Ter	RCV000815867	nonsense	Familial cancer of breast	NC_000017.11:g.61801389C>T	ClinVar
BRIP1	Q9BX63	p.Trp335Ter	rs1555607749	stop gained	-	NC_000017.11:g.61801389C>T	-
BRIP1	Q9BX63	p.Asp336Tyr	rs1214800958	missense variant	-	NC_000017.11:g.61801387C>A	TOPMed
BRIP1	Q9BX63	p.Asp336Ala	rs1430929794	missense variant	-	NC_000017.11:g.61801386T>G	gnomAD
BRIP1	Q9BX63	p.Ile337Val	rs1365389773	missense variant	-	NC_000017.11:g.61801384T>C	gnomAD
BRIP1	Q9BX63	p.Glu338Gln	rs777653224	missense variant	-	NC_000017.11:g.61801381C>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu338Lys	RCV000567478	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801381C>T	ClinVar
BRIP1	Q9BX63	p.Glu338Lys	RCV000548040	missense variant	Familial cancer of breast	NC_000017.11:g.61801381C>T	ClinVar
BRIP1	Q9BX63	p.Glu338Lys	rs777653224	missense variant	-	NC_000017.11:g.61801381C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu340Phe	RCV000462189	missense variant	Familial cancer of breast	NC_000017.11:g.61801375G>A	ClinVar
BRIP1	Q9BX63	p.Leu340Phe	RCV000563667	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801375G>A	ClinVar
BRIP1	Q9BX63	p.Leu340Ter	RCV000234635	frameshift	Familial cancer of breast	NC_000017.11:g.61801374_61801375insAG	ClinVar
BRIP1	Q9BX63	p.Leu340Ter	RCV000563981	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801374_61801375insAG	ClinVar
BRIP1	Q9BX63	p.Leu340Phe	rs755796609	missense variant	-	NC_000017.11:g.61801375G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Val341Ile	RCV000197282	missense variant	Familial cancer of breast	NC_000017.11:g.61801372C>T	ClinVar
BRIP1	Q9BX63	p.Val341Ile	rs863224797	missense variant	-	NC_000017.11:g.61801372C>T	-
BRIP1	Q9BX63	p.Leu343Pro	RCV000688160	missense variant	Familial cancer of breast	NC_000017.11:g.61801365A>G	ClinVar
BRIP1	Q9BX63	p.Leu343Arg	rs1414803437	missense variant	-	NC_000017.11:g.61801365A>C	gnomAD
BRIP1	Q9BX63	p.Leu343Met	COSM1385018	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801366G>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Gly344Glu	RCV000560634	missense variant	Familial cancer of breast	NC_000017.11:g.61801362C>T	ClinVar
BRIP1	Q9BX63	p.Gly344Glu	RCV000626975	missense variant	-	NC_000017.11:g.61801362C>T	ClinVar
BRIP1	Q9BX63	p.Gly344Glu	RCV000580888	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801362C>T	ClinVar
BRIP1	Q9BX63	p.Gly344Arg	RCV000701190	missense variant	Familial cancer of breast	NC_000017.11:g.61801363C>T	ClinVar
BRIP1	Q9BX63	p.Gly344Arg	RCV000583905	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801363C>T	ClinVar
BRIP1	Q9BX63	p.Gly344Glu	rs751841684	missense variant	-	NC_000017.11:g.61801362C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly344Arg	rs1555607734	missense variant	-	NC_000017.11:g.61801363C>T	-
BRIP1	Q9BX63	p.Leu347Pro	rs786201819	missense variant	-	NC_000017.11:g.61801353A>G	TOPMed
BRIP1	Q9BX63	p.Leu347Pro	RCV000409937	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801353A>G	ClinVar
BRIP1	Q9BX63	p.Leu347Pro	RCV000164304	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801353A>G	ClinVar
BRIP1	Q9BX63	p.Leu347Pro	RCV000410942	missense variant	Neoplasm of ovary	NC_000017.11:g.61801353A>G	ClinVar
BRIP1	Q9BX63	p.Leu347Pro	RCV000371659	missense variant	-	NC_000017.11:g.61801353A>G	ClinVar
BRIP1	Q9BX63	p.Leu347Pro	RCV000636110	missense variant	Familial cancer of breast	NC_000017.11:g.61801353A>G	ClinVar
BRIP1	Q9BX63	p.Ala349Thr	rs149364097	missense variant	Fanconi anemia, complementation group j (fancj)	NC_000017.11:g.61801348C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala349Val	rs1184306036	missense variant	-	NC_000017.11:g.61801347G>A	gnomAD
BRIP1	Q9BX63	p.Ala349Gly	rs1184306036	missense variant	-	NC_000017.11:g.61801347G>C	gnomAD
BRIP1	Q9BX63	p.Ala349Thr	rs149364097	missense variant	-	NC_000017.11:g.61801348C>T	NCI-TCGA
BRIP1	Q9BX63	p.Ala349Pro	RCV000023492	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801348C>G	ClinVar
BRIP1	Q9BX63	p.Ala349Pro	rs149364097	missense variant	Fanconi anemia, complementation group j (fancj)	NC_000017.11:g.61801348C>G	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala349Ser	rs149364097	missense variant	Fanconi anemia, complementation group j (fancj)	NC_000017.11:g.61801348C>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala349Val	rs1184306036	missense variant	-	NC_000017.11:g.61801347G>A	NCI-TCGA
BRIP1	Q9BX63	p.Ala349Thr	RCV000431413	missense variant	-	NC_000017.11:g.61801348C>T	ClinVar
BRIP1	Q9BX63	p.Ala349Ser	RCV000213526	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801348C>A	ClinVar
BRIP1	Q9BX63	p.Ala349Thr	RCV000563742	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801348C>T	ClinVar
BRIP1	Q9BX63	p.Ala349Thr	RCV000706778	missense variant	Familial cancer of breast	NC_000017.11:g.61801348C>T	ClinVar
BRIP1	Q9BX63	p.Cys350Arg	RCV000483983	missense variant	-	NC_000017.11:g.61801345A>G	ClinVar
BRIP1	Q9BX63	p.Cys350Arg	RCV000214181	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801345A>G	ClinVar
BRIP1	Q9BX63	p.Cys350Arg	RCV000549174	missense variant	Familial cancer of breast	NC_000017.11:g.61801345A>G	ClinVar
BRIP1	Q9BX63	p.Cys350Arg	rs876658173	missense variant	-	NC_000017.11:g.61801345A>G	-
BRIP1	Q9BX63	p.Tyr352His	RCV000213947	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801339A>G	ClinVar
BRIP1	Q9BX63	p.Tyr352His	RCV000160334	missense variant	-	NC_000017.11:g.61801339A>G	ClinVar
BRIP1	Q9BX63	p.Tyr352His	RCV000542718	missense variant	Familial cancer of breast	NC_000017.11:g.61801339A>G	ClinVar
BRIP1	Q9BX63	p.Tyr352His	rs730881632	missense variant	-	NC_000017.11:g.61801339A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Tyr352Cys	rs762417690	missense variant	-	NC_000017.11:g.61801338T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Tyr353His	RCV000702256	missense variant	Familial cancer of breast	NC_000017.11:g.61801336A>G	ClinVar
BRIP1	Q9BX63	p.Tyr353Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61801335T>C	NCI-TCGA
BRIP1	Q9BX63	p.Thr354Ile	rs776939714	missense variant	-	NC_000017.11:g.61801332G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr354Ile	RCV000214947	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801332G>A	ClinVar
BRIP1	Q9BX63	p.Arg356Ter	RCV000160335	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801327G>A	ClinVar
BRIP1	Q9BX63	p.Arg356Gln	rs1289648562	missense variant	-	NC_000017.11:g.61801326C>T	gnomAD
BRIP1	Q9BX63	p.Arg356Ter	RCV000212307	nonsense	-	NC_000017.11:g.61801327G>A	ClinVar
BRIP1	Q9BX63	p.Arg356Ter	RCV000636104	nonsense	Familial cancer of breast	NC_000017.11:g.61801327G>A	ClinVar
BRIP1	Q9BX63	p.Arg356Gly	rs730881633	missense variant	-	NC_000017.11:g.61801327G>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg356Ter	rs730881633	stop gained	-	NC_000017.11:g.61801327G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu357Ter	rs769081927	stop gained	-	NC_000017.11:g.61801324C>A	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Glu357Ter	rs769081927	stop gained	-	NC_000017.11:g.61801324C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu358Ile	rs775191379	missense variant	-	NC_000017.11:g.61801321G>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu358Ter	RCV000684898	frameshift	Familial cancer of breast	NC_000017.11:g.61801306_61801321del	ClinVar
BRIP1	Q9BX63	p.Leu358Pro	COSM1184939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801320A>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ile359Val	rs1158711504	missense variant	-	NC_000017.11:g.61801318T>C	gnomAD
BRIP1	Q9BX63	p.Ile359Met	RCV000565573	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801316T>C	ClinVar
BRIP1	Q9BX63	p.Ile359Met	rs730881634	missense variant	-	NC_000017.11:g.61801316T>C	TOPMed
BRIP1	Q9BX63	p.Asp361Ter	RCV000129762	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801311del	ClinVar
BRIP1	Q9BX63	p.Asp361Tyr	rs1060501737	missense variant	-	NC_000017.11:g.61801312C>A	gnomAD
BRIP1	Q9BX63	p.Asp361Tyr	RCV000472157	missense variant	Familial cancer of breast	NC_000017.11:g.61801312C>A	ClinVar
BRIP1	Q9BX63	p.Asp361Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61801311T>A	NCI-TCGA
BRIP1	Q9BX63	p.Ala362Val	RCV000579755	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801308G>A	ClinVar
BRIP1	Q9BX63	p.Ala362Val	rs1555607683	missense variant	-	NC_000017.11:g.61801308G>A	-
BRIP1	Q9BX63	p.Asp363Asn	COSM3795900	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61801306C>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ile364Phe	rs770306753	missense variant	-	NC_000017.11:g.61801303T>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile364Val	RCV000636067	missense variant	Familial cancer of breast	NC_000017.11:g.61801303T>C	ClinVar
BRIP1	Q9BX63	p.Ile364Val	RCV000575286	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801303T>C	ClinVar
BRIP1	Q9BX63	p.Ile364Val	rs770306753	missense variant	-	NC_000017.11:g.61801303T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile365Leu	RCV000569160	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801300T>G	ClinVar
BRIP1	Q9BX63	p.Ile365Val	rs749251680	missense variant	-	NC_000017.11:g.61801300T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile365Leu	rs749251680	missense variant	-	NC_000017.11:g.61801300T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Cys367Ter	RCV000217387	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801291_61801295del	ClinVar
BRIP1	Q9BX63	p.Cys367Arg	RCV000699015	missense variant	Familial cancer of breast	NC_000017.11:g.61801294A>G	ClinVar
BRIP1	Q9BX63	p.Cys367Phe	RCV000773777	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801293C>A	ClinVar
BRIP1	Q9BX63	p.Pro368Ser	rs1555607669	missense variant	-	NC_000017.11:g.61801291G>A	-
BRIP1	Q9BX63	p.Pro368Arg	rs1064793072	missense variant	-	NC_000017.11:g.61801290G>C	-
BRIP1	Q9BX63	p.Pro368Arg	RCV000486758	missense variant	-	NC_000017.11:g.61801290G>C	ClinVar
BRIP1	Q9BX63	p.Pro368Ser	RCV000550495	missense variant	Familial cancer of breast	NC_000017.11:g.61801291G>A	ClinVar
BRIP1	Q9BX63	p.Tyr369Cys	RCV000526617	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801287T>C	ClinVar
BRIP1	Q9BX63	p.Tyr369Cys	RCV000164934	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801287T>C	ClinVar
BRIP1	Q9BX63	p.Tyr369Cys	RCV000411336	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801287T>C	ClinVar
BRIP1	Q9BX63	p.Tyr369Cys	RCV000409363	missense variant	Neoplasm of ovary	NC_000017.11:g.61801287T>C	ClinVar
BRIP1	Q9BX63	p.Tyr369His	RCV000129066	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801288A>G	ClinVar
BRIP1	Q9BX63	p.Tyr369His	RCV000470192	missense variant	Familial cancer of breast	NC_000017.11:g.61801288A>G	ClinVar
BRIP1	Q9BX63	p.Tyr369His	rs587781325	missense variant	-	NC_000017.11:g.61801288A>G	TOPMed
BRIP1	Q9BX63	p.Tyr369Cys	rs786202218	missense variant	-	NC_000017.11:g.61801287T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn370Ser	RCV000569917	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801284T>C	ClinVar
BRIP1	Q9BX63	p.Asn370Ser	RCV000586091	missense variant	-	NC_000017.11:g.61801284T>C	ClinVar
BRIP1	Q9BX63	p.Asn370Ser	RCV000662391	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61801284T>C	ClinVar
BRIP1	Q9BX63	p.Asn370Ser	rs777511615	missense variant	-	NC_000017.11:g.61801284T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Tyr371Ter	RCV000690293	frameshift	Familial cancer of breast	NC_000017.11:g.61801283_61801284dup	ClinVar
BRIP1	Q9BX63	p.Tyr371Cys	rs1060501768	missense variant	-	NC_000017.11:g.61801281T>C	TOPMed
BRIP1	Q9BX63	p.Tyr371Cys	RCV000473551	missense variant	Familial cancer of breast	NC_000017.11:g.61801281T>C	ClinVar
BRIP1	Q9BX63	p.Leu372Ile	RCV000165545	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801279G>T	ClinVar
BRIP1	Q9BX63	p.Leu372Phe	RCV000569842	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801279G>A	ClinVar
BRIP1	Q9BX63	p.Leu372Phe	RCV000538350	missense variant	Familial cancer of breast	NC_000017.11:g.61801279G>A	ClinVar
BRIP1	Q9BX63	p.Leu372Phe	rs786202637	missense variant	-	NC_000017.11:g.61801279G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu372Ile	rs786202637	missense variant	-	NC_000017.11:g.61801279G>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu372Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61801278A>G	NCI-TCGA
BRIP1	Q9BX63	p.Ala375Val	RCV000164893	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801269G>A	ClinVar
BRIP1	Q9BX63	p.Ala375Thr	RCV000230469	missense variant	Familial cancer of breast	NC_000017.11:g.61801270C>T	ClinVar
BRIP1	Q9BX63	p.Ala375Val	RCV000804829	missense variant	Familial cancer of breast	NC_000017.11:g.61801269G>A	ClinVar
BRIP1	Q9BX63	p.Ala375Thr	RCV000572170	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801270C>T	ClinVar
BRIP1	Q9BX63	p.Ala375Val	rs786202192	missense variant	-	NC_000017.11:g.61801269G>A	TOPMed
BRIP1	Q9BX63	p.Ala375Thr	rs878855135	missense variant	-	NC_000017.11:g.61801270C>T	-
BRIP1	Q9BX63	p.Gln376Ter	rs1028347439	stop gained	-	NC_000017.11:g.61801267G>A	TOPMed
BRIP1	Q9BX63	p.Gln376Ter	RCV000581764	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801267G>A	ClinVar
BRIP1	Q9BX63	p.Ile377Val	rs876659688	missense variant	-	NC_000017.11:g.61801264T>C	-
BRIP1	Q9BX63	p.Ile377Val	RCV000222191	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801264T>C	ClinVar
BRIP1	Q9BX63	p.Ile377Val	RCV000803149	missense variant	Familial cancer of breast	NC_000017.11:g.61801264T>C	ClinVar
BRIP1	Q9BX63	p.Arg378Lys	rs1555607637	missense variant	-	NC_000017.11:g.61801260C>T	-
BRIP1	Q9BX63	p.Arg378Lys	RCV000698388	missense variant	Familial cancer of breast	NC_000017.11:g.61801260C>T	ClinVar
BRIP1	Q9BX63	p.Arg378Lys	RCV000573737	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801260C>T	ClinVar
BRIP1	Q9BX63	p.Arg378Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61801259C>G	NCI-TCGA
BRIP1	Q9BX63	p.Glu379Gly	RCV000574402	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801257T>C	ClinVar
BRIP1	Q9BX63	p.Glu379Gly	rs1555607635	missense variant	-	NC_000017.11:g.61801257T>C	-
BRIP1	Q9BX63	p.Ser380Gly	rs1555607633	missense variant	-	NC_000017.11:g.61801255T>C	-
BRIP1	Q9BX63	p.Ser380Asn	rs569696977	missense variant	-	NC_000017.11:g.61801254C>T	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Ser380Ile	RCV000580380	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801254C>A	ClinVar
BRIP1	Q9BX63	p.Ser380Asn	RCV000566062	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801254C>T	ClinVar
BRIP1	Q9BX63	p.Ser380Ile	rs569696977	missense variant	-	NC_000017.11:g.61801254C>A	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Ser380Ile	RCV000822100	missense variant	Familial cancer of breast	NC_000017.11:g.61801254C>A	ClinVar
BRIP1	Q9BX63	p.Ser380Gly	RCV000575900	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61801255T>C	ClinVar
BRIP1	Q9BX63	p.Ser380Ile	RCV000758984	missense variant	-	NC_000017.11:g.61801254C>A	ClinVar
BRIP1	Q9BX63	p.Met381Lys	rs1060501741	missense variant	-	NC_000017.11:g.61799298A>T	-
BRIP1	Q9BX63	p.Met381Val	rs1555607251	missense variant	-	NC_000017.11:g.61799299T>C	-
BRIP1	Q9BX63	p.Met381Val	RCV000573050	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799299T>C	ClinVar
BRIP1	Q9BX63	p.Met381Lys	RCV000464547	missense variant	Familial cancer of breast	NC_000017.11:g.61799298A>T	ClinVar
BRIP1	Q9BX63	p.Asp382Asn	rs1452168198	missense variant	-	NC_000017.11:g.61799296C>T	gnomAD
BRIP1	Q9BX63	p.Asn384Ser	rs1060501750	missense variant	-	NC_000017.11:g.61799289T>C	-
BRIP1	Q9BX63	p.Asn384Ser	RCV000471576	missense variant	Familial cancer of breast	NC_000017.11:g.61799289T>C	ClinVar
BRIP1	Q9BX63	p.Leu385Met	RCV000582933	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799287G>T	ClinVar
BRIP1	Q9BX63	p.Leu385Met	RCV000199172	missense variant	Familial cancer of breast	NC_000017.11:g.61799287G>T	ClinVar
BRIP1	Q9BX63	p.Leu385Met	RCV000286010	missense variant	-	NC_000017.11:g.61799287G>T	ClinVar
BRIP1	Q9BX63	p.Leu385Met	rs748001678	missense variant	-	NC_000017.11:g.61799287G>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys386Ter	RCV000505742	nonsense	-	NC_000017.11:g.61799284T>A	ClinVar
BRIP1	Q9BX63	p.Lys386Ter	rs730881635	stop gained	-	NC_000017.11:g.61799284T>A	-
BRIP1	Q9BX63	p.Glu387Lys	rs1555607230	missense variant	-	NC_000017.11:g.61799281C>T	-
BRIP1	Q9BX63	p.Glu387Lys	RCV000565775	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799281C>T	ClinVar
BRIP1	Q9BX63	p.Gln388Ter	RCV000690639	nonsense	Familial cancer of breast	NC_000017.11:g.61799278G>A	ClinVar
BRIP1	Q9BX63	p.Gln388Ter	rs1304655615	stop gained	-	NC_000017.11:g.61799278G>A	gnomAD
BRIP1	Q9BX63	p.Val389Phe	rs587780825	missense variant	-	NC_000017.11:g.61799275C>A	gnomAD
BRIP1	Q9BX63	p.Val389Ile	RCV000123345	missense variant	Familial cancer of breast	NC_000017.11:g.61799275C>T	ClinVar
BRIP1	Q9BX63	p.Val389Ile	rs587780825	missense variant	-	NC_000017.11:g.61799275C>T	gnomAD
BRIP1	Q9BX63	p.Val389Ile	RCV000219844	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799275C>T	ClinVar
BRIP1	Q9BX63	p.Val389Ile	RCV000521223	missense variant	-	NC_000017.11:g.61799275C>T	ClinVar
BRIP1	Q9BX63	p.Val389Phe	RCV000485017	missense variant	-	NC_000017.11:g.61799275C>A	ClinVar
BRIP1	Q9BX63	p.Val390Ile	rs781168634	missense variant	-	NC_000017.11:g.61799272C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile391Met	rs1427603031	missense variant	-	NC_000017.11:g.61799267A>C	gnomAD
BRIP1	Q9BX63	p.Ile391Val	RCV000195653	missense variant	Familial cancer of breast	NC_000017.11:g.61799269T>C	ClinVar
BRIP1	Q9BX63	p.Ile391Val	RCV000662590	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799269T>C	ClinVar
BRIP1	Q9BX63	p.Ile391Val	RCV000564729	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799269T>C	ClinVar
BRIP1	Q9BX63	p.Ile391Val	rs863224798	missense variant	-	NC_000017.11:g.61799269T>C	TOPMed
BRIP1	Q9BX63	p.Asp393His	RCV000636065	missense variant	Familial cancer of breast	NC_000017.11:g.61799263C>G	ClinVar
BRIP1	Q9BX63	p.Asp393His	rs1555607200	missense variant	-	NC_000017.11:g.61799263C>G	-
BRIP1	Q9BX63	p.Ala395Val	rs778992385	missense variant	-	NC_000017.11:g.61799256G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala395Val	RCV000533050	missense variant	Familial cancer of breast	NC_000017.11:g.61799256G>A	ClinVar
BRIP1	Q9BX63	p.Ala395Asp	RCV000552357	missense variant	Familial cancer of breast	NC_000017.11:g.61799256G>T	ClinVar
BRIP1	Q9BX63	p.Ala395Asp	rs778992385	missense variant	-	NC_000017.11:g.61799256G>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala395Thr	COSM1324926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61799257C>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.His396Arg	rs996493095	missense variant	-	NC_000017.11:g.61799253T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.His396Arg	RCV000568743	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799253T>C	ClinVar
BRIP1	Q9BX63	p.His396Arg	RCV000456902	missense variant	Familial cancer of breast	NC_000017.11:g.61799253T>C	ClinVar
BRIP1	Q9BX63	p.His396Arg	RCV000483663	missense variant	-	NC_000017.11:g.61799253T>C	ClinVar
BRIP1	Q9BX63	p.Asn397His	RCV000130499	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799251T>G	ClinVar
BRIP1	Q9BX63	p.Asn397His	rs587782039	missense variant	-	NC_000017.11:g.61799251T>G	-
BRIP1	Q9BX63	p.Asn397His	RCV000457387	missense variant	Familial cancer of breast	NC_000017.11:g.61799251T>G	ClinVar
BRIP1	Q9BX63	p.Ile398Val	rs786203967	missense variant	-	NC_000017.11:g.61799248T>C	TOPMed
BRIP1	Q9BX63	p.Ile398Val	RCV000167500	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799248T>C	ClinVar
BRIP1	Q9BX63	p.Ile398Val	RCV000545385	missense variant	Familial cancer of breast	NC_000017.11:g.61799248T>C	ClinVar
BRIP1	Q9BX63	p.Glu399Lys	RCV000228302	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799245C>T	ClinVar
BRIP1	Q9BX63	p.Glu399Lys	rs587782816	missense variant	-	NC_000017.11:g.61799245C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu399Lys	RCV000411467	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799245C>T	ClinVar
BRIP1	Q9BX63	p.Glu399Asp	RCV000686333	missense variant	Familial cancer of breast	NC_000017.11:g.61799243C>G	ClinVar
BRIP1	Q9BX63	p.Glu399Lys	RCV000409044	missense variant	Neoplasm of ovary	NC_000017.11:g.61799245C>T	ClinVar
BRIP1	Q9BX63	p.Glu399Lys	RCV000132388	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799245C>T	ClinVar
BRIP1	Q9BX63	p.Asp400Tyr	rs764711572	missense variant	-	NC_000017.11:g.61799242C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp400Tyr	RCV000215891	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799242C>A	ClinVar
BRIP1	Q9BX63	p.Asp400Tyr	RCV000219685	missense variant	-	NC_000017.11:g.61799242C>A	ClinVar
BRIP1	Q9BX63	p.Asp400Tyr	RCV000196847	missense variant	Familial cancer of breast	NC_000017.11:g.61799242C>A	ClinVar
BRIP1	Q9BX63	p.Cys401Tyr	rs1340018456	missense variant	-	NC_000017.11:g.61799238C>T	TOPMed
BRIP1	Q9BX63	p.Cys401Arg	rs756636362	missense variant	-	NC_000017.11:g.61799239A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala402Val	rs876659282	missense variant	-	NC_000017.11:g.61799235G>A	-
BRIP1	Q9BX63	p.Ala402Val	RCV000697413	missense variant	Familial cancer of breast	NC_000017.11:g.61799235G>A	ClinVar
BRIP1	Q9BX63	p.Ala402Val	RCV000223391	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799235G>A	ClinVar
BRIP1	Q9BX63	p.Arg403Trp	RCV000123346	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799233G>A	ClinVar
BRIP1	Q9BX63	p.Arg403Gln	RCV000459631	missense variant	Familial cancer of breast	NC_000017.11:g.61799232C>T	ClinVar
BRIP1	Q9BX63	p.Arg403Gln	RCV000483464	missense variant	-	NC_000017.11:g.61799232C>T	ClinVar
BRIP1	Q9BX63	p.Arg403Gln	RCV000165766	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799232C>T	ClinVar
BRIP1	Q9BX63	p.Arg403Trp	RCV000343344	missense variant	-	NC_000017.11:g.61799233G>A	ClinVar
BRIP1	Q9BX63	p.Arg403Trp	RCV000409639	missense variant	Neoplasm of ovary	NC_000017.11:g.61799233G>A	ClinVar
BRIP1	Q9BX63	p.Arg403Gln	rs786202780	missense variant	-	NC_000017.11:g.61799232C>T	gnomAD
BRIP1	Q9BX63	p.Arg403Trp	rs369631413	missense variant	-	NC_000017.11:g.61799233G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg403Trp	RCV000411604	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799233G>A	ClinVar
BRIP1	Q9BX63	p.Arg403Trp	RCV000215569	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799233G>A	ClinVar
BRIP1	Q9BX63	p.Arg403Trp	rs369631413	missense variant	-	NC_000017.11:g.61799233G>A	NCI-TCGA
BRIP1	Q9BX63	p.Glu404Lys	COSM6147711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61799230C>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ala406Ser	RCV000583531	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799224C>A	ClinVar
BRIP1	Q9BX63	p.Ala406Val	rs767872861	missense variant	-	NC_000017.11:g.61799223G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala406Ser	RCV000466194	missense variant	Familial cancer of breast	NC_000017.11:g.61799224C>A	ClinVar
BRIP1	Q9BX63	p.Ala406Ser	rs1060501747	missense variant	-	NC_000017.11:g.61799224C>A	-
BRIP1	Q9BX63	p.Ser407Asn	RCV000636136	missense variant	Familial cancer of breast	NC_000017.11:g.61799220C>T	ClinVar
BRIP1	Q9BX63	p.Ser407Asn	RCV000220583	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799220C>T	ClinVar
BRIP1	Q9BX63	p.Ser407Gly	RCV000533268	missense variant	Familial cancer of breast	NC_000017.11:g.61799221T>C	ClinVar
BRIP1	Q9BX63	p.Ser407Gly	RCV000581075	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799221T>C	ClinVar
BRIP1	Q9BX63	p.Ser407Gly	rs1555607156	missense variant	-	NC_000017.11:g.61799221T>C	-
BRIP1	Q9BX63	p.Ser407Asn	rs759835916	missense variant	-	NC_000017.11:g.61799220C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser409Ile	rs587782247	missense variant	-	NC_000017.11:g.61799214C>A	-
BRIP1	Q9BX63	p.Ser409Ile	RCV000130955	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799214C>A	ClinVar
BRIP1	Q9BX63	p.Val410Ala	rs1315040357	missense variant	-	NC_000017.11:g.61799211A>G	gnomAD
BRIP1	Q9BX63	p.Val410Ala	RCV000570082	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799211A>G	ClinVar
BRIP1	Q9BX63	p.Thr411Pro	rs1396705621	missense variant	-	NC_000017.11:g.61799209T>G	gnomAD
BRIP1	Q9BX63	p.Thr411Ter	RCV000165215	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799190_61799211del	ClinVar
BRIP1	Q9BX63	p.Thr411Lys	rs1372635508	missense variant	-	NC_000017.11:g.61799208G>T	gnomAD
BRIP1	Q9BX63	p.Thr411Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61799209T>C	NCI-TCGA
BRIP1	Q9BX63	p.Glu412Ter	RCV000479248	frameshift	-	NC_000017.11:g.61799206_61799207del	ClinVar
BRIP1	Q9BX63	p.Glu412Ter	RCV000575632	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799206_61799207del	ClinVar
BRIP1	Q9BX63	p.Glu412Ter	RCV000853338	frameshift	Ovarian Cancers	NC_000017.11:g.61799206_61799207del	ClinVar
BRIP1	Q9BX63	p.Val413Ter	RCV000200575	frameshift	Familial cancer of breast	NC_000017.11:g.61799205del	ClinVar
BRIP1	Q9BX63	p.Val413Ter	RCV000216061	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799205del	ClinVar
BRIP1	Q9BX63	p.Val413Ter	RCV000481091	frameshift	-	NC_000017.11:g.61799205del	ClinVar
BRIP1	Q9BX63	p.Val413Ala	RCV000545615	missense variant	Familial cancer of breast	NC_000017.11:g.61799202A>G	ClinVar
BRIP1	Q9BX63	p.Val413Ala	rs45576134	missense variant	-	NC_000017.11:g.61799202A>G	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Gln414His	rs1257200897	missense variant	-	NC_000017.11:g.61799198C>G	TOPMed
BRIP1	Q9BX63	p.Gln414Ter	rs368796923	stop gained	-	NC_000017.11:g.61799200G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln414Ter	RCV000411128	nonsense	Neoplasm of ovary	NC_000017.11:g.61799200G>A	ClinVar
BRIP1	Q9BX63	p.Gln414Ter	RCV000409609	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799200G>A	ClinVar
BRIP1	Q9BX63	p.Gln414Ter	RCV000781179	nonsense	Familial cancer of breast	NC_000017.11:g.61799200G>A	ClinVar
BRIP1	Q9BX63	p.Gln414His	RCV000572169	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799198C>G	ClinVar
BRIP1	Q9BX63	p.Arg416Gln	RCV000566468	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799193C>T	ClinVar
BRIP1	Q9BX63	p.Arg416Gln	RCV000467513	missense variant	Familial cancer of breast	NC_000017.11:g.61799193C>T	ClinVar
BRIP1	Q9BX63	p.Arg416Trp	rs587780225	missense variant	-	NC_000017.11:g.61799194G>A	NCI-TCGA
BRIP1	Q9BX63	p.Arg416Trp	RCV000558154	missense variant	Familial cancer of breast	NC_000017.11:g.61799194G>A	ClinVar
BRIP1	Q9BX63	p.Arg416Trp	RCV000571154	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799194G>A	ClinVar
BRIP1	Q9BX63	p.Arg416Trp	RCV000116119	missense variant	-	NC_000017.11:g.61799194G>A	ClinVar
BRIP1	Q9BX63	p.Arg416Gln	rs772570870	missense variant	-	NC_000017.11:g.61799193C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg416Trp	rs587780225	missense variant	-	NC_000017.11:g.61799194G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg416Trp	RCV000780058	missense variant	-	NC_000017.11:g.61799194G>A	ClinVar
BRIP1	Q9BX63	p.Ala418Ser	RCV000686161	missense variant	Familial cancer of breast	NC_000017.11:g.61799188C>A	ClinVar
BRIP1	Q9BX63	p.Arg419Trp	rs150624408	missense variant	-	NC_000017.11:g.61799185G>A	UniProt,dbSNP
BRIP1	Q9BX63	p.Arg419Trp	VAR_020901	missense variant	-	NC_000017.11:g.61799185G>A	UniProt
BRIP1	Q9BX63	p.Arg419Trp	rs150624408	missense variant	-	NC_000017.11:g.61799185G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg419Gln	rs748105919	missense variant	-	NC_000017.11:g.61799184C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg419Gln	RCV000463365	missense variant	Familial cancer of breast	NC_000017.11:g.61799184C>T	ClinVar
BRIP1	Q9BX63	p.Arg419Trp	RCV000409993	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799185G>A	ClinVar
BRIP1	Q9BX63	p.Arg419Trp	RCV000411100	missense variant	Neoplasm of ovary	NC_000017.11:g.61799185G>A	ClinVar
BRIP1	Q9BX63	p.Arg419Trp	RCV000415326	missense variant	-	NC_000017.11:g.61799185G>A	ClinVar
BRIP1	Q9BX63	p.Arg419Trp	RCV000120413	missense variant	-	NC_000017.11:g.61799185G>A	ClinVar
BRIP1	Q9BX63	p.Arg419Trp	RCV000206467	missense variant	Familial cancer of breast	NC_000017.11:g.61799185G>A	ClinVar
BRIP1	Q9BX63	p.Arg419Gly	RCV000772589	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799185G>C	ClinVar
BRIP1	Q9BX63	p.Arg419Trp	RCV000587794	missense variant	-	NC_000017.11:g.61799185G>A	ClinVar
BRIP1	Q9BX63	p.Arg419Trp	RCV000116120	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799185G>A	ClinVar
BRIP1	Q9BX63	p.Glu421Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61799179C>T	NCI-TCGA
BRIP1	Q9BX63	p.Glu421Gln	COSM1134054	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61799179C>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Leu422Ile	rs768633507	missense variant	-	NC_000017.11:g.61799176G>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp423Ala	RCV000561716	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799172T>G	ClinVar
BRIP1	Q9BX63	p.Asp423Gly	RCV000572388	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799172T>C	ClinVar
BRIP1	Q9BX63	p.Asp423Gly	RCV000636091	missense variant	Familial cancer of breast	NC_000017.11:g.61799172T>C	ClinVar
BRIP1	Q9BX63	p.Asp423Ala	rs746778889	missense variant	-	NC_000017.11:g.61799172T>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp423Gly	rs746778889	missense variant	-	NC_000017.11:g.61799172T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser424Asn	rs1354610577	missense variant	-	NC_000017.11:g.61799169C>T	gnomAD
BRIP1	Q9BX63	p.Ser424Gly	rs1028779004	missense variant	-	NC_000017.11:g.61799170T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser424Asn	RCV000811919	missense variant	Familial cancer of breast	NC_000017.11:g.61799169C>T	ClinVar
BRIP1	Q9BX63	p.Ser424Asn	RCV000580509	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799169C>T	ClinVar
BRIP1	Q9BX63	p.Ser424Gly	RCV000574706	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799170T>C	ClinVar
BRIP1	Q9BX63	p.Met425Val	RCV000698590	missense variant	Familial cancer of breast	NC_000017.11:g.61799167T>C	ClinVar
BRIP1	Q9BX63	p.Met425Lys	rs1555607090	missense variant	-	NC_000017.11:g.61799166A>T	-
BRIP1	Q9BX63	p.Met425Ile	rs1555607086	missense variant	-	NC_000017.11:g.61799165C>T	-
BRIP1	Q9BX63	p.Met425Lys	RCV000579591	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799166A>T	ClinVar
BRIP1	Q9BX63	p.Met425Ile	RCV000636101	missense variant	Familial cancer of breast	NC_000017.11:g.61799165C>T	ClinVar
BRIP1	Q9BX63	p.Val426Gly	RCV000781169	missense variant	-	NC_000017.11:g.61799163A>C	ClinVar
BRIP1	Q9BX63	p.Asn427Ser	rs1466605276	missense variant	-	NC_000017.11:g.61799160T>C	TOPMed
BRIP1	Q9BX63	p.Asn428Thr	RCV000559529	missense variant	Familial cancer of breast	NC_000017.11:g.61799157T>G	ClinVar
BRIP1	Q9BX63	p.Asn428Thr	RCV000219872	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799157T>G	ClinVar
BRIP1	Q9BX63	p.Asn428Thr	rs779237423	missense variant	-	NC_000017.11:g.61799157T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Asn429Thr	rs587781463	missense variant	-	NC_000017.11:g.61799154T>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn429Asp	RCV000570276	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799155T>C	ClinVar
BRIP1	Q9BX63	p.Asn429Thr	RCV000129398	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799154T>G	ClinVar
BRIP1	Q9BX63	p.Asn429Asp	rs1555607082	missense variant	-	NC_000017.11:g.61799155T>C	-
BRIP1	Q9BX63	p.Asn429Thr	RCV000519909	missense variant	-	NC_000017.11:g.61799154T>G	ClinVar
BRIP1	Q9BX63	p.Asn429Thr	RCV000535703	missense variant	Familial cancer of breast	NC_000017.11:g.61799154T>G	ClinVar
BRIP1	Q9BX63	p.Ile430Thr	RCV000547465	missense variant	Familial cancer of breast	NC_000017.11:g.61799151A>G	ClinVar
BRIP1	Q9BX63	p.Ile430Thr	rs1555607077	missense variant	-	NC_000017.11:g.61799151A>G	-
BRIP1	Q9BX63	p.Ile430Leu	RCV000772533	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799152T>A	ClinVar
BRIP1	Q9BX63	p.Ile430Val	COSM3421758	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61799152T>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Arg431Lys	RCV000636130	missense variant	Familial cancer of breast	NC_000017.11:g.61799148C>T	ClinVar
BRIP1	Q9BX63	p.Arg431Lys	rs1328630889	missense variant	-	NC_000017.11:g.61799148C>T	gnomAD
BRIP1	Q9BX63	p.Lys432Glu	RCV000580556	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799146T>C	ClinVar
BRIP1	Q9BX63	p.Lys432Glu	rs1555607070	missense variant	-	NC_000017.11:g.61799146T>C	-
BRIP1	Q9BX63	p.Lys432Ter	rs1555607070	stop gained	-	NC_000017.11:g.61799146T>A	-
BRIP1	Q9BX63	p.Lys432Ter	RCV000566907	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799146T>A	ClinVar
BRIP1	Q9BX63	p.Asp434Val	RCV000685808	missense variant	Familial cancer of breast	NC_000017.11:g.61799139T>A	ClinVar
BRIP1	Q9BX63	p.His435Arg	RCV000160338	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799136T>C	ClinVar
BRIP1	Q9BX63	p.His435Arg	rs730881636	missense variant	-	NC_000017.11:g.61799136T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.His435Arg	RCV000212308	missense variant	-	NC_000017.11:g.61799136T>C	ClinVar
BRIP1	Q9BX63	p.His435Arg	RCV000204749	missense variant	Familial cancer of breast	NC_000017.11:g.61799136T>C	ClinVar
BRIP1	Q9BX63	p.His435Tyr	rs1060501758	missense variant	-	NC_000017.11:g.61799137G>A	TOPMed
BRIP1	Q9BX63	p.His435Gln	rs1352266926	missense variant	-	NC_000017.11:g.61799135A>T	gnomAD
BRIP1	Q9BX63	p.His435Tyr	RCV000663159	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799137G>A	ClinVar
BRIP1	Q9BX63	p.His435Tyr	RCV000475043	missense variant	Familial cancer of breast	NC_000017.11:g.61799137G>A	ClinVar
BRIP1	Q9BX63	p.Pro437Ala	RCV000228671	missense variant	Familial cancer of breast	NC_000017.11:g.61799131G>C	ClinVar
BRIP1	Q9BX63	p.Pro437Ala	rs878855137	missense variant	-	NC_000017.11:g.61799131G>C	TOPMed
BRIP1	Q9BX63	p.Leu438Ter	RCV000479813	frameshift	-	NC_000017.11:g.61799131del	ClinVar
BRIP1	Q9BX63	p.Leu438Arg	rs1555607056	missense variant	-	NC_000017.11:g.61799127A>C	-
BRIP1	Q9BX63	p.Leu438Ile	rs756119073	missense variant	-	NC_000017.11:g.61799128G>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu438Arg	RCV000571942	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799127A>C	ClinVar
BRIP1	Q9BX63	p.Arg439Gln	rs753214212	missense variant	-	NC_000017.11:g.61799124C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg439Ter	rs587780226	stop gained	-	NC_000017.11:g.61799125G>A	NCI-TCGA
BRIP1	Q9BX63	p.Arg439Gln	RCV000528173	missense variant	Familial cancer of breast	NC_000017.11:g.61799124C>T	ClinVar
BRIP1	Q9BX63	p.Arg439Gln	RCV000775423	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799124C>T	ClinVar
BRIP1	Q9BX63	p.Arg439Ter	RCV000210150	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799125G>A	ClinVar
BRIP1	Q9BX63	p.Arg439Ter	rs587780226	stop gained	-	NC_000017.11:g.61799125G>A	gnomAD
BRIP1	Q9BX63	p.Arg439Ter	RCV000662793	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799125G>A	ClinVar
BRIP1	Q9BX63	p.Arg439Ter	RCV000699261	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799125G>A	ClinVar
BRIP1	Q9BX63	p.Arg439Ter	RCV000116121	nonsense	-	NC_000017.11:g.61799125G>A	ClinVar
BRIP1	Q9BX63	p.Val441Ala	rs1458068665	missense variant	-	NC_000017.11:g.61799118A>G	gnomAD
BRIP1	Q9BX63	p.Val441Met	rs1060501782	missense variant	-	NC_000017.11:g.61799119C>T	-
BRIP1	Q9BX63	p.Val441Met	RCV000662896	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799119C>T	ClinVar
BRIP1	Q9BX63	p.Val441Met	RCV000457451	missense variant	Familial cancer of breast	NC_000017.11:g.61799119C>T	ClinVar
BRIP1	Q9BX63	p.Cys442Ser	RCV000567518	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799115C>G	ClinVar
BRIP1	Q9BX63	p.Cys442Ter	RCV000723256	frameshift	-	NC_000017.11:g.61799116_61799122del	ClinVar
BRIP1	Q9BX63	p.Cys442Ser	rs1555607040	missense variant	-	NC_000017.11:g.61799115C>G	-
BRIP1	Q9BX63	p.Cys443Tyr	rs1555607035	missense variant	-	NC_000017.11:g.61799112C>T	-
BRIP1	Q9BX63	p.Cys443Tyr	RCV000636064	missense variant	Familial cancer of breast	NC_000017.11:g.61799112C>T	ClinVar
BRIP1	Q9BX63	p.Ile446Thr	RCV000758985	missense variant	-	NC_000017.11:g.61799103A>G	ClinVar
BRIP1	Q9BX63	p.Ile446Leu	RCV000166825	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799104T>G	ClinVar
BRIP1	Q9BX63	p.Ile446Thr	RCV000573487	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61799103A>G	ClinVar
BRIP1	Q9BX63	p.Ile446Leu	RCV000709550	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61799104T>G	ClinVar
BRIP1	Q9BX63	p.Ile446Thr	rs1555607024	missense variant	-	NC_000017.11:g.61799103A>G	-
BRIP1	Q9BX63	p.Ile446Leu	rs786203496	missense variant	-	NC_000017.11:g.61799104T>G	-
BRIP1	Q9BX63	p.Trp448Ter	RCV000449028	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793727C>T	ClinVar
BRIP1	Q9BX63	p.Trp448Ter	RCV000198848	nonsense	Familial cancer of breast	NC_000017.11:g.61793727C>T	ClinVar
BRIP1	Q9BX63	p.Trp448Ter	rs775171520	stop gained	-	NC_000017.11:g.61793727C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala451Val	rs771861055	missense variant	-	NC_000017.11:g.61793718G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala453Thr	RCV000524937	missense variant	Familial cancer of breast	NC_000017.11:g.61793713C>T	ClinVar
BRIP1	Q9BX63	p.Ala453Thr	rs587780227	missense variant	-	NC_000017.11:g.61793713C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala453Thr	RCV000221894	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793713C>T	ClinVar
BRIP1	Q9BX63	p.Ala453Thr	RCV000116122	missense variant	-	NC_000017.11:g.61793713C>T	ClinVar
BRIP1	Q9BX63	p.Glu454Val	RCV000809729	missense variant	Familial cancer of breast	NC_000017.11:g.61793709T>A	ClinVar
BRIP1	Q9BX63	p.Glu454Val	RCV000771394	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793709T>A	ClinVar
BRIP1	Q9BX63	p.Glu454Asp	RCV000165414	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793708T>G	ClinVar
BRIP1	Q9BX63	p.Glu454Ter	RCV000663127	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793710C>A	ClinVar
BRIP1	Q9BX63	p.Glu454Ter	rs1555605955	stop gained	-	NC_000017.11:g.61793710C>A	-
BRIP1	Q9BX63	p.Glu454Asp	rs786202553	missense variant	-	NC_000017.11:g.61793708T>G	-
BRIP1	Q9BX63	p.Glu454Val	rs769918040	missense variant	-	NC_000017.11:g.61793709T>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu454Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61793708T>A	NCI-TCGA
BRIP1	Q9BX63	p.Tyr455Asn	RCV000123347	missense variant	Familial cancer of breast	NC_000017.11:g.61793707A>T	ClinVar
BRIP1	Q9BX63	p.Tyr455Asn	rs587780826	missense variant	-	NC_000017.11:g.61793707A>T	gnomAD
BRIP1	Q9BX63	p.Leu456Phe	rs1379791142	missense variant	-	NC_000017.11:g.61793704G>A	gnomAD
BRIP1	Q9BX63	p.Leu456His	RCV000636156	missense variant	Familial cancer of breast	NC_000017.11:g.61793703A>T	ClinVar
BRIP1	Q9BX63	p.Leu456His	rs1555605947	missense variant	-	NC_000017.11:g.61793703A>T	-
BRIP1	Q9BX63	p.Val457Leu	RCV000679775	missense variant	-	NC_000017.11:g.61793701C>G	ClinVar
BRIP1	Q9BX63	p.Val457Ile	RCV000571111	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793701C>T	ClinVar
BRIP1	Q9BX63	p.Val457Ile	rs748221377	missense variant	-	NC_000017.11:g.61793701C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Val457Leu	RCV000474977	missense variant	Familial cancer of breast	NC_000017.11:g.61793701C>G	ClinVar
BRIP1	Q9BX63	p.Val457Leu	rs748221377	missense variant	-	NC_000017.11:g.61793701C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Val457Gly	rs1369274888	missense variant	-	NC_000017.11:g.61793700A>C	TOPMed
BRIP1	Q9BX63	p.Val457CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61793701_61793702insA	NCI-TCGA
BRIP1	Q9BX63	p.Glu458Ter	rs587780228	stop gained	-	NC_000017.11:g.61793698C>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu458Ter	RCV000473135	nonsense	Familial cancer of breast	NC_000017.11:g.61793698C>A	ClinVar
BRIP1	Q9BX63	p.Glu458Ter	RCV000781186	nonsense	Familial cancer of breast	NC_000017.11:g.61793698C>A	ClinVar
BRIP1	Q9BX63	p.Glu458Ter	RCV000212309	nonsense	-	NC_000017.11:g.61793698C>A	ClinVar
BRIP1	Q9BX63	p.Glu458Gly	rs1555605942	missense variant	-	NC_000017.11:g.61793697T>C	-
BRIP1	Q9BX63	p.Glu458Gly	RCV000580245	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793697T>C	ClinVar
BRIP1	Q9BX63	p.Glu458Gln	RCV000776784	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793698C>G	ClinVar
BRIP1	Q9BX63	p.Glu458Ter	RCV000663293	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793698C>A	ClinVar
BRIP1	Q9BX63	p.Glu458Ter	RCV000116123	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793698C>A	ClinVar
BRIP1	Q9BX63	p.Arg459Gly	RCV000214628	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793695T>C	ClinVar
BRIP1	Q9BX63	p.Arg459Gly	RCV000694775	missense variant	Familial cancer of breast	NC_000017.11:g.61793695T>C	ClinVar
BRIP1	Q9BX63	p.Arg459Ser	RCV000580858	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793693T>G	ClinVar
BRIP1	Q9BX63	p.Arg459Gly	rs752052351	missense variant	-	NC_000017.11:g.61793695T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg459Ser	rs780310294	missense variant	-	NC_000017.11:g.61793693T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp460Asn	rs1199869583	missense variant	-	NC_000017.11:g.61793692C>T	gnomAD
BRIP1	Q9BX63	p.Tyr461Ter	RCV000657659	nonsense	-	NC_000017.11:g.61793687A>C	ClinVar
BRIP1	Q9BX63	p.Tyr461Ter	rs587780875	stop gained	-	NC_000017.11:g.61793687A>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Tyr461Ter	RCV000195948	nonsense	Familial cancer of breast	NC_000017.11:g.61793687A>C	ClinVar
BRIP1	Q9BX63	p.Ser463Pro	rs1555605920	missense variant	-	NC_000017.11:g.61793683A>G	-
BRIP1	Q9BX63	p.Ser463Pro	RCV000822996	missense variant	Familial cancer of breast	NC_000017.11:g.61793683A>G	ClinVar
BRIP1	Q9BX63	p.Ser463Pro	RCV000580303	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793683A>G	ClinVar
BRIP1	Q9BX63	p.Cys465Arg	rs1308550801	missense variant	-	NC_000017.11:g.61793677A>G	TOPMed
BRIP1	Q9BX63	p.Cys465Arg	RCV000772234	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793677A>G	ClinVar
BRIP1	Q9BX63	p.Ile467Met	RCV000220101	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793669T>C	ClinVar
BRIP1	Q9BX63	p.Ile467Met	rs764979728	missense variant	-	NC_000017.11:g.61793669T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Trp468Arg	rs1369814158	missense variant	-	NC_000017.11:g.61793668A>G	TOPMed
BRIP1	Q9BX63	p.Asn471Ser	rs1555605906	missense variant	-	NC_000017.11:g.61793658T>C	-
BRIP1	Q9BX63	p.Asn471Ser	RCV000563546	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793658T>C	ClinVar
BRIP1	Q9BX63	p.Glu472Ter	RCV000575093	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793656C>A	ClinVar
BRIP1	Q9BX63	p.Glu472Gln	RCV000679776	missense variant	-	NC_000017.11:g.61793656C>G	ClinVar
BRIP1	Q9BX63	p.Glu472Ter	RCV000694857	nonsense	Familial cancer of breast	NC_000017.11:g.61793656C>A	ClinVar
BRIP1	Q9BX63	p.Glu472Ter	rs1555605902	stop gained	-	NC_000017.11:g.61793656C>A	-
BRIP1	Q9BX63	p.Thr476Ser	RCV000709548	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793643G>C	ClinVar
BRIP1	Q9BX63	p.Leu477Val	rs1389470069	missense variant	-	NC_000017.11:g.61793641A>C	TOPMed
BRIP1	Q9BX63	p.His478Tyr	RCV000575059	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793638G>A	ClinVar
BRIP1	Q9BX63	p.His478Arg	RCV000123348	missense variant	Familial cancer of breast	NC_000017.11:g.61793637T>C	ClinVar
BRIP1	Q9BX63	p.His478Arg	RCV000409336	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793637T>C	ClinVar
BRIP1	Q9BX63	p.His478Arg	rs45501097	missense variant	-	NC_000017.11:g.61793637T>C	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.His478Pro	rs45501097	missense variant	-	NC_000017.11:g.61793637T>G	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.His478Tyr	rs761452695	missense variant	-	NC_000017.11:g.61793638G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.His478Arg	RCV000120388	missense variant	-	NC_000017.11:g.61793637T>C	ClinVar
BRIP1	Q9BX63	p.His478Arg	RCV000410488	missense variant	Neoplasm of ovary	NC_000017.11:g.61793637T>C	ClinVar
BRIP1	Q9BX63	p.His478Arg	RCV000116125	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793637T>C	ClinVar
BRIP1	Q9BX63	p.Met480Ile	rs1555605887	missense variant	-	NC_000017.11:g.61793630C>G	-
BRIP1	Q9BX63	p.Met480Ile	rs1555605887	missense variant	-	NC_000017.11:g.61793630C>G	NCI-TCGA
BRIP1	Q9BX63	p.Met480Ile	RCV000554675	missense variant	Familial cancer of breast	NC_000017.11:g.61793630C>G	ClinVar
BRIP1	Q9BX63	p.Gly481Asp	rs200062099	missense variant	-	NC_000017.11:g.61793628C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly481Asp	RCV000130729	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793628C>T	ClinVar
BRIP1	Q9BX63	p.Gly481Asp	RCV000212311	missense variant	-	NC_000017.11:g.61793628C>T	ClinVar
BRIP1	Q9BX63	p.Gly481Val	rs200062099	missense variant	-	NC_000017.11:g.61793628C>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly481Cys	RCV000530704	missense variant	Familial cancer of breast	NC_000017.11:g.61793629C>A	ClinVar
BRIP1	Q9BX63	p.Gly481Asp	RCV000469846	missense variant	Familial cancer of breast	NC_000017.11:g.61793628C>T	ClinVar
BRIP1	Q9BX63	p.Gly481Asp	RCV000780054	missense variant	-	NC_000017.11:g.61793628C>T	ClinVar
BRIP1	Q9BX63	p.Gly481Val	RCV000116127	missense variant	-	NC_000017.11:g.61793628C>A	ClinVar
BRIP1	Q9BX63	p.Gly481Cys	rs587780229	missense variant	-	NC_000017.11:g.61793629C>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly481Asp	RCV000663131	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793628C>T	ClinVar
BRIP1	Q9BX63	p.Gly481Cys	RCV000220981	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793629C>A	ClinVar
BRIP1	Q9BX63	p.Gly481Cys	RCV000116126	missense variant	-	NC_000017.11:g.61793629C>A	ClinVar
BRIP1	Q9BX63	p.Ile482Met	rs759360709	missense variant	-	NC_000017.11:g.61793624G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile482Val	rs142744352	missense variant	-	NC_000017.11:g.61793626T>C	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile482Met	RCV000581460	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793624G>C	ClinVar
BRIP1	Q9BX63	p.Ile482Met	RCV000197743	missense variant	Familial cancer of breast	NC_000017.11:g.61793624G>C	ClinVar
BRIP1	Q9BX63	p.Ile482Val	RCV000195858	missense variant	Familial cancer of breast	NC_000017.11:g.61793626T>C	ClinVar
BRIP1	Q9BX63	p.Ile482Val	RCV000218129	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793626T>C	ClinVar
BRIP1	Q9BX63	p.Ile482Val	RCV000589605	missense variant	-	NC_000017.11:g.61793626T>C	ClinVar
BRIP1	Q9BX63	p.Ile482Val	RCV000662396	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61793626T>C	ClinVar
BRIP1	Q9BX63	p.Thr483Ile	rs1555605874	missense variant	-	NC_000017.11:g.61793622G>A	-
BRIP1	Q9BX63	p.Thr483Ile	RCV000562447	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793622G>A	ClinVar
BRIP1	Q9BX63	p.Thr486Ala	rs1190796460	missense variant	-	NC_000017.11:g.61793614T>C	gnomAD
BRIP1	Q9BX63	p.Pro488Ser	RCV000542268	missense variant	Familial cancer of breast	NC_000017.11:g.61793608G>A	ClinVar
BRIP1	Q9BX63	p.Pro488Ser	rs1450320184	missense variant	-	NC_000017.11:g.61793608G>A	gnomAD
BRIP1	Q9BX63	p.Pro488Arg	rs1237035767	missense variant	-	NC_000017.11:g.61793607G>C	gnomAD
BRIP1	Q9BX63	p.Pro488Ser	RCV000575739	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793608G>A	ClinVar
BRIP1	Q9BX63	p.Ile489Val	rs1555605855	missense variant	-	NC_000017.11:g.61793605T>C	-
BRIP1	Q9BX63	p.Ile489Val	RCV000563502	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793605T>C	ClinVar
BRIP1	Q9BX63	p.Ile489Ter	RCV000565670	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793612del	ClinVar
BRIP1	Q9BX63	p.Ile489Val	RCV000780060	missense variant	-	NC_000017.11:g.61793605T>C	ClinVar
BRIP1	Q9BX63	p.Ile489Met	RCV000462892	missense variant	Familial cancer of breast	NC_000017.11:g.61793603A>C	ClinVar
BRIP1	Q9BX63	p.Ile489Met	rs587780230	missense variant	-	NC_000017.11:g.61793603A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile489Met	RCV000588035	missense variant	-	NC_000017.11:g.61793603A>C	ClinVar
BRIP1	Q9BX63	p.Ile489Met	RCV000116129	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793603A>C	ClinVar
BRIP1	Q9BX63	p.Ile489Val	RCV000693834	missense variant	Familial cancer of breast	NC_000017.11:g.61793605T>C	ClinVar
BRIP1	Q9BX63	p.Leu490Phe	RCV000772554	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793600C>A	ClinVar
BRIP1	Q9BX63	p.Gln491Leu	RCV000570500	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61793598T>A	ClinVar
BRIP1	Q9BX63	p.Gln491Leu	rs1555605852	missense variant	-	NC_000017.11:g.61793598T>A	-
BRIP1	Q9BX63	p.Gln491Leu	RCV000690425	missense variant	Familial cancer of breast	NC_000017.11:g.61793598T>A	ClinVar
BRIP1	Q9BX63	p.Gln491Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61793599G>T	NCI-TCGA
BRIP1	Q9BX63	p.His493Tyr	rs1555603628	missense variant	-	NC_000017.11:g.61784421G>A	-
BRIP1	Q9BX63	p.His493Leu	rs1555603626	missense variant	-	NC_000017.11:g.61784420T>A	-
BRIP1	Q9BX63	p.His493Leu	RCV000636120	missense variant	Familial cancer of breast	NC_000017.11:g.61784420T>A	ClinVar
BRIP1	Q9BX63	p.His493Tyr	RCV000580963	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784421G>A	ClinVar
BRIP1	Q9BX63	p.Ser495Phe	rs536081549	missense variant	-	NC_000017.11:g.61784414G>A	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Ser495Pro	RCV000554730	missense variant	Familial cancer of breast	NC_000017.11:g.61784415A>G	ClinVar
BRIP1	Q9BX63	p.Ser495Ter	RCV000564849	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784419dup	ClinVar
BRIP1	Q9BX63	p.Ser495Pro	rs1555603617	missense variant	-	NC_000017.11:g.61784415A>G	-
BRIP1	Q9BX63	p.Ala496Val	rs1555603612	missense variant	-	NC_000017.11:g.61784411G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ala496Val	RCV000584433	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784411G>A	ClinVar
BRIP1	Q9BX63	p.Ala496Val	rs1555603612	missense variant	-	NC_000017.11:g.61784411G>A	-
BRIP1	Q9BX63	p.Val497Leu	rs876658725	missense variant	-	NC_000017.11:g.61784409C>G	TOPMed
BRIP1	Q9BX63	p.Val497Leu	RCV000222629	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784409C>G	ClinVar
BRIP1	Q9BX63	p.Val497Leu	RCV000696982	missense variant	Familial cancer of breast	NC_000017.11:g.61784409C>G	ClinVar
BRIP1	Q9BX63	p.Leu498His	RCV000569583	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784405A>T	ClinVar
BRIP1	Q9BX63	p.Leu498His	rs1555603600	missense variant	-	NC_000017.11:g.61784405A>T	-
BRIP1	Q9BX63	p.Gln499Ter	rs1060501739	stop gained	-	NC_000017.11:g.61784403G>A	-
BRIP1	Q9BX63	p.Gln499Ter	RCV000473198	nonsense	Familial cancer of breast	NC_000017.11:g.61784403G>A	ClinVar
BRIP1	Q9BX63	p.Lys500Arg	rs746329838	missense variant	-	NC_000017.11:g.61784399T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Lys503Thr	rs1310324883	missense variant	-	NC_000017.11:g.61784390T>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys503Glu	rs1555603594	missense variant	-	NC_000017.11:g.61784391T>C	-
BRIP1	Q9BX63	p.Lys503Glu	RCV000587053	missense variant	-	NC_000017.11:g.61784391T>C	ClinVar
BRIP1	Q9BX63	p.Lys503Asn	rs1443429619	missense variant	-	NC_000017.11:g.61784389T>G	gnomAD
BRIP1	Q9BX63	p.Lys503Asn	RCV000570177	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784389T>G	ClinVar
BRIP1	Q9BX63	p.Lys503Asn	RCV000798722	missense variant	Familial cancer of breast	NC_000017.11:g.61784389T>G	ClinVar
BRIP1	Q9BX63	p.Lys503Arg	rs1310324883	missense variant	-	NC_000017.11:g.61784390T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile504Thr	rs755306832	missense variant	-	NC_000017.11:g.61784387A>G	TOPMed
BRIP1	Q9BX63	p.Ile504Ter	RCV000464669	frameshift	Familial cancer of breast	NC_000017.11:g.61784393del	ClinVar
BRIP1	Q9BX63	p.Ile504AsnPheSerTerUnk	rs775735278	frameshift	-	NC_000017.11:g.61784387_61784388insT	NCI-TCGA
BRIP1	Q9BX63	p.Ile504Thr	RCV000562211	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784387A>G	ClinVar
BRIP1	Q9BX63	p.Ile504Met	RCV000215869	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784386G>C	ClinVar
BRIP1	Q9BX63	p.Ile504Met	rs876660478	missense variant	-	NC_000017.11:g.61784386G>C	TOPMed
BRIP1	Q9BX63	p.Ile504SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61784388T>-	NCI-TCGA
BRIP1	Q9BX63	p.Ser505Leu	RCV000569483	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784384G>A	ClinVar
BRIP1	Q9BX63	p.Ser505Leu	RCV000457490	missense variant	Familial cancer of breast	NC_000017.11:g.61784384G>A	ClinVar
BRIP1	Q9BX63	p.Ser505Leu	rs945661395	missense variant	-	NC_000017.11:g.61784384G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile507Val	RCV000636181	missense variant	Familial cancer of breast	NC_000017.11:g.61784379T>C	ClinVar
BRIP1	Q9BX63	p.Ile507Val	RCV000575490	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784379T>C	ClinVar
BRIP1	Q9BX63	p.Ile507Val	rs1555603569	missense variant	-	NC_000017.11:g.61784379T>C	-
BRIP1	Q9BX63	p.Ile507Met	COSM1589086	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61784377A>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Tyr508Cys	RCV000774897	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784375T>C	ClinVar
BRIP1	Q9BX63	p.Gly509Asp	RCV000567604	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784372C>T	ClinVar
BRIP1	Q9BX63	p.Gly509Asp	rs1555603567	missense variant	-	NC_000017.11:g.61784372C>T	-
BRIP1	Q9BX63	p.Gly509Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61784372C>A	NCI-TCGA
BRIP1	Q9BX63	p.Glu511Gly	rs1555603565	missense variant	-	NC_000017.11:g.61784366T>C	-
BRIP1	Q9BX63	p.Glu511Asp	rs1418736430	missense variant	-	NC_000017.11:g.61784365C>G	gnomAD
BRIP1	Q9BX63	p.Glu511Gly	RCV000571712	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784366T>C	ClinVar
BRIP1	Q9BX63	p.Ala513Ter	RCV000695002	frameshift	Familial cancer of breast	NC_000017.11:g.61784362del	ClinVar
BRIP1	Q9BX63	p.Arg514LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61784357C>-	NCI-TCGA
BRIP1	Q9BX63	p.Glu515Asp	RCV000691432	missense variant	Familial cancer of breast	NC_000017.11:g.61784353T>G	ClinVar
BRIP1	Q9BX63	p.Glu515Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61784355C>A	NCI-TCGA
BRIP1	Q9BX63	p.Glu515Ter	RCV000484034	frameshift	-	NC_000017.11:g.61784355del	ClinVar
BRIP1	Q9BX63	p.Val516Ile	RCV000777057	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784352C>T	ClinVar
BRIP1	Q9BX63	p.Pro517Leu	rs786202169	missense variant	-	NC_000017.11:g.61784348G>A	TOPMed
BRIP1	Q9BX63	p.Pro517Leu	RCV000164858	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784348G>A	ClinVar
BRIP1	Q9BX63	p.Val518Asp	RCV000561182	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784345A>T	ClinVar
BRIP1	Q9BX63	p.Val518Ile	RCV000439785	missense variant	-	NC_000017.11:g.61784346C>T	ClinVar
BRIP1	Q9BX63	p.Val518Asp	rs1555603541	missense variant	-	NC_000017.11:g.61784345A>T	-
BRIP1	Q9BX63	p.Ile519Thr	RCV000575364	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784342A>G	ClinVar
BRIP1	Q9BX63	p.Ile519Thr	RCV000636151	missense variant	Familial cancer of breast	NC_000017.11:g.61784342A>G	ClinVar
BRIP1	Q9BX63	p.Ile519Asn	RCV000581012	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784342A>T	ClinVar
BRIP1	Q9BX63	p.Ile519Asn	rs1555603538	missense variant	-	NC_000017.11:g.61784342A>T	-
BRIP1	Q9BX63	p.Ile519Thr	rs1555603538	missense variant	-	NC_000017.11:g.61784342A>G	-
BRIP1	Q9BX63	p.Ser520Arg	RCV000160341	missense variant	-	NC_000017.11:g.61784338A>T	ClinVar
BRIP1	Q9BX63	p.Ser520Arg	rs730881638	missense variant	-	NC_000017.11:g.61784338A>T	-
BRIP1	Q9BX63	p.Ser520Thr	rs757629526	missense variant	-	NC_000017.11:g.61784339C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala521Thr	rs913184257	missense variant	-	NC_000017.11:g.61784337C>T	TOPMed
BRIP1	Q9BX63	p.Ala521Thr	RCV000775100	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784337C>T	ClinVar
BRIP1	Q9BX63	p.Ser522Leu	RCV000570283	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784333G>A	ClinVar
BRIP1	Q9BX63	p.Ser522Leu	rs1555603525	missense variant	-	NC_000017.11:g.61784333G>A	-
BRIP1	Q9BX63	p.Thr523Ala	rs1555603510	missense variant	-	NC_000017.11:g.61784331T>C	-
BRIP1	Q9BX63	p.Thr523Ile	RCV000663134	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784330G>A	ClinVar
BRIP1	Q9BX63	p.Thr523Ala	RCV000562602	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784331T>C	ClinVar
BRIP1	Q9BX63	p.Thr523Ile	rs1060501764	missense variant	-	NC_000017.11:g.61784330G>A	-
BRIP1	Q9BX63	p.Thr523Ile	RCV000477399	missense variant	Familial cancer of breast	NC_000017.11:g.61784330G>A	ClinVar
BRIP1	Q9BX63	p.Gln524Arg	RCV000795285	missense variant	Familial cancer of breast	NC_000017.11:g.61784327T>C	ClinVar
BRIP1	Q9BX63	p.Gln524Pro	rs587781726	missense variant	-	NC_000017.11:g.61784327T>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln524Arg	rs587781726	missense variant	-	NC_000017.11:g.61784327T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln524Arg	RCV000129913	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784327T>C	ClinVar
BRIP1	Q9BX63	p.Gln524Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61784328G>A	NCI-TCGA
BRIP1	Q9BX63	p.Gln524Pro	RCV000472237	missense variant	Familial cancer of breast	NC_000017.11:g.61784327T>G	ClinVar
BRIP1	Q9BX63	p.Leu527Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61784319G>A	NCI-TCGA
BRIP1	Q9BX63	p.Lys528Glu	RCV000568422	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784316T>C	ClinVar
BRIP1	Q9BX63	p.Lys528Glu	rs748962730	missense variant	-	NC_000017.11:g.61784316T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Lys528Ter	rs748962730	stop gained	-	NC_000017.11:g.61784316T>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly529Glu	rs138784299	missense variant	-	NC_000017.11:g.61784312C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly529Arg	RCV000560732	missense variant	Familial cancer of breast	NC_000017.11:g.61784313C>G	ClinVar
BRIP1	Q9BX63	p.Gly529Arg	RCV000217753	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784313C>G	ClinVar
BRIP1	Q9BX63	p.Gly529Arg	rs876659321	missense variant	-	NC_000017.11:g.61784313C>G	-
BRIP1	Q9BX63	p.Gly529Glu	RCV000120389	missense variant	-	NC_000017.11:g.61784312C>T	ClinVar
BRIP1	Q9BX63	p.Leu530Val	rs1326418771	missense variant	-	NC_000017.11:g.61784310G>C	gnomAD
BRIP1	Q9BX63	p.Phe531Ser	RCV000232484	missense variant	Familial cancer of breast	NC_000017.11:g.61784306A>G	ClinVar
BRIP1	Q9BX63	p.Phe531Val	RCV000482354	missense variant	-	NC_000017.11:g.61784307A>C	ClinVar
BRIP1	Q9BX63	p.Phe531Val	RCV000573125	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784307A>C	ClinVar
BRIP1	Q9BX63	p.Phe531Val	RCV000206417	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784307A>C	ClinVar
BRIP1	Q9BX63	p.Phe531Val	rs4988350	missense variant	-	NC_000017.11:g.61784307A>C	gnomAD
BRIP1	Q9BX63	p.Phe531Ser	rs878855139	missense variant	-	NC_000017.11:g.61784306A>G	-
BRIP1	Q9BX63	p.Phe531Val	RCV000662403	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784307A>C	ClinVar
BRIP1	Q9BX63	p.Met532Val	rs876658383	missense variant	-	NC_000017.11:g.61784304T>C	TOPMed
BRIP1	Q9BX63	p.Met532Val	RCV000780069	missense variant	-	NC_000017.11:g.61784304T>C	ClinVar
BRIP1	Q9BX63	p.Met532Val	RCV000214562	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784304T>C	ClinVar
BRIP1	Q9BX63	p.Met532Val	RCV000532257	missense variant	Familial cancer of breast	NC_000017.11:g.61784304T>C	ClinVar
BRIP1	Q9BX63	p.Met532Thr	rs1179705368	missense variant	-	NC_000017.11:g.61784303A>G	TOPMed
BRIP1	Q9BX63	p.Met532Thr	RCV000571401	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784303A>G	ClinVar
BRIP1	Q9BX63	p.Met532Ter	RCV000636080	frameshift	Familial cancer of breast	NC_000017.11:g.61784304dup	ClinVar
BRIP1	Q9BX63	p.Val533Ala	rs1555603483	missense variant	-	NC_000017.11:g.61784300A>G	-
BRIP1	Q9BX63	p.Val533Ala	RCV000574873	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784300A>G	ClinVar
BRIP1	Q9BX63	p.Tyr536Cys	rs1060501752	missense variant	-	NC_000017.11:g.61784291T>C	-
BRIP1	Q9BX63	p.Tyr536Cys	RCV000474112	missense variant	Familial cancer of breast	NC_000017.11:g.61784291T>C	ClinVar
BRIP1	Q9BX63	p.Tyr536Cys	RCV000580669	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784291T>C	ClinVar
BRIP1	Q9BX63	p.Leu537His	RCV000777287	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784288A>T	ClinVar
BRIP1	Q9BX63	p.Leu537Val	RCV000205999	missense variant	Familial cancer of breast	NC_000017.11:g.61784289G>C	ClinVar
BRIP1	Q9BX63	p.Leu537Val	rs864622208	missense variant	-	NC_000017.11:g.61784289G>C	-
BRIP1	Q9BX63	p.Arg539Lys	RCV000226321	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784282C>T	ClinVar
BRIP1	Q9BX63	p.Arg539Lys	RCV000709547	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784282C>T	ClinVar
BRIP1	Q9BX63	p.Arg539Lys	rs199616792	missense variant	-	NC_000017.11:g.61784282C>T	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg539Met	rs199616792	missense variant	-	NC_000017.11:g.61784282C>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg539Lys	RCV000130314	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784282C>T	ClinVar
BRIP1	Q9BX63	p.Arg539Lys	RCV000662628	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784282C>T	ClinVar
BRIP1	Q9BX63	p.Gln540Leu	RCV000222534	missense variant	-	NC_000017.11:g.61784279T>A	ClinVar
BRIP1	Q9BX63	p.Gln540Leu	RCV000662789	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784279T>A	ClinVar
BRIP1	Q9BX63	p.Gln540Leu	RCV000781166	missense variant	-	NC_000017.11:g.61784279T>A	ClinVar
BRIP1	Q9BX63	p.Gln540Leu	rs4988349	missense variant	-	NC_000017.11:g.61784279T>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln540Leu	RCV000465039	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61784279T>A	ClinVar
BRIP1	Q9BX63	p.Ser542Asn	rs1193170320	missense variant	-	NC_000017.11:g.61784273C>T	TOPMed
BRIP1	Q9BX63	p.Ser542Asn	RCV000568937	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61784273C>T	ClinVar
BRIP1	Q9BX63	p.Asp547Glu	RCV000165883	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780993A>C	ClinVar
BRIP1	Q9BX63	p.Asp547Glu	RCV000269215	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61780993A>C	ClinVar
BRIP1	Q9BX63	p.Asp547Glu	RCV000662956	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780993A>C	ClinVar
BRIP1	Q9BX63	p.Asp547Glu	RCV000326593	missense variant	Neoplasm of the breast	NC_000017.11:g.61780993A>C	ClinVar
BRIP1	Q9BX63	p.Asp547Glu	RCV000537150	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780993A>C	ClinVar
BRIP1	Q9BX63	p.Asp547Glu	RCV000758989	missense variant	-	NC_000017.11:g.61780993A>C	ClinVar
BRIP1	Q9BX63	p.Asp547Glu	rs754414731	missense variant	-	NC_000017.11:g.61780993A>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Tyr548Cys	RCV000131440	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780991T>C	ClinVar
BRIP1	Q9BX63	p.Tyr548Cys	RCV000230012	missense variant	Familial cancer of breast	NC_000017.11:g.61780991T>C	ClinVar
BRIP1	Q9BX63	p.Tyr548Cys	rs587782405	missense variant	-	NC_000017.11:g.61780991T>C	-
BRIP1	Q9BX63	p.Ile550Met	RCV000130967	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780984A>C	ClinVar
BRIP1	Q9BX63	p.Ile550Met	RCV000636069	missense variant	Familial cancer of breast	NC_000017.11:g.61780984A>C	ClinVar
BRIP1	Q9BX63	p.Ile550Met	rs587782254	missense variant	-	NC_000017.11:g.61780984A>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile550Met	RCV000479209	missense variant	-	NC_000017.11:g.61780984A>C	ClinVar
BRIP1	Q9BX63	p.Ala551Thr	rs766302517	missense variant	-	NC_000017.11:g.61780983C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala551Thr	RCV000582348	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780983C>T	ClinVar
BRIP1	Q9BX63	p.Ala551Glu	RCV000679777	missense variant	-	NC_000017.11:g.61780982G>T	ClinVar
BRIP1	Q9BX63	p.Ala551Ter	RCV000567527	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780987_61780991dup	ClinVar
BRIP1	Q9BX63	p.Ala551Val	RCV000481084	missense variant	-	NC_000017.11:g.61780982G>A	ClinVar
BRIP1	Q9BX63	p.Ala551Glu	RCV000217074	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780982G>T	ClinVar
BRIP1	Q9BX63	p.Ala551Val	RCV000636090	missense variant	Familial cancer of breast	NC_000017.11:g.61780982G>A	ClinVar
BRIP1	Q9BX63	p.Ala551Val	RCV000130386	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780982G>A	ClinVar
BRIP1	Q9BX63	p.Ala551Glu	RCV000663320	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780982G>T	ClinVar
BRIP1	Q9BX63	p.Ala551Glu	rs375246789	missense variant	-	NC_000017.11:g.61780982G>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala551Pro	rs766302517	missense variant	-	NC_000017.11:g.61780983C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala551Val	rs375246789	missense variant	-	NC_000017.11:g.61780982G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala551Glu	RCV000205457	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780982G>T	ClinVar
BRIP1	Q9BX63	p.Ile552Thr	rs369340666	missense variant	-	NC_000017.11:g.61780979A>G	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile552Thr	RCV000132461	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780979A>G	ClinVar
BRIP1	Q9BX63	p.Ile552Thr	RCV000662589	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780979A>G	ClinVar
BRIP1	Q9BX63	p.Ile552Thr	RCV000204568	missense variant	Familial cancer of breast	NC_000017.11:g.61780979A>G	ClinVar
BRIP1	Q9BX63	p.Ile552Thr	RCV000215881	missense variant	-	NC_000017.11:g.61780979A>G	ClinVar
BRIP1	Q9BX63	p.Gln553His	RCV000580779	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780975T>G	ClinVar
BRIP1	Q9BX63	p.Gln553His	rs876660693	missense variant	-	NC_000017.11:g.61780975T>G	-
BRIP1	Q9BX63	p.Gln554Glu	RCV000590587	missense variant	-	NC_000017.11:g.61780974G>C	ClinVar
BRIP1	Q9BX63	p.Gln554Glu	RCV000462805	missense variant	Familial cancer of breast	NC_000017.11:g.61780974G>C	ClinVar
BRIP1	Q9BX63	p.Gln554Ter	RCV000771280	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780974G>A	ClinVar
BRIP1	Q9BX63	p.Gln554Ter	RCV000702705	frameshift	Familial cancer of breast	NC_000017.11:g.61780973del	ClinVar
BRIP1	Q9BX63	p.Gln554Glu	RCV000218328	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780974G>C	ClinVar
BRIP1	Q9BX63	p.Gln554Glu	rs777217004	missense variant	-	NC_000017.11:g.61780974G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln554His	rs1060501749	missense variant	-	NC_000017.11:g.61780972C>G	-
BRIP1	Q9BX63	p.Gln554His	RCV000461047	missense variant	Familial cancer of breast	NC_000017.11:g.61780972C>G	ClinVar
BRIP1	Q9BX63	p.Gln554Arg	RCV000781185	missense variant	-	NC_000017.11:g.61780973T>C	ClinVar
BRIP1	Q9BX63	p.Tyr556His	rs752797989	missense variant	-	NC_000017.11:g.61780968A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser557Phe	rs1375911072	missense variant	-	NC_000017.11:g.61780964G>A	gnomAD
BRIP1	Q9BX63	p.Trp558Arg	RCV000636163	missense variant	Familial cancer of breast	NC_000017.11:g.61780962A>G	ClinVar
BRIP1	Q9BX63	p.Trp558Arg	rs767648925	missense variant	-	NC_000017.11:g.61780962A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr559Arg	rs876658266	missense variant	-	NC_000017.11:g.61780958G>C	-
BRIP1	Q9BX63	p.Thr559Arg	RCV000218161	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780958G>C	ClinVar
BRIP1	Q9BX63	p.Thr559Arg	RCV000232870	missense variant	Familial cancer of breast	NC_000017.11:g.61780958G>C	ClinVar
BRIP1	Q9BX63	p.Asn560Ile	rs1555602592	missense variant	-	NC_000017.11:g.61780955T>A	-
BRIP1	Q9BX63	p.Asn560Ile	RCV000588788	missense variant	-	NC_000017.11:g.61780955T>A	ClinVar
BRIP1	Q9BX63	p.Gln561His	rs1209325148	missense variant	-	NC_000017.11:g.61780951C>G	TOPMed
BRIP1	Q9BX63	p.Gln561His	RCV000572976	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780951C>G	ClinVar
BRIP1	Q9BX63	p.Ile562Met	rs1374464175	missense variant	-	NC_000017.11:g.61780948A>C	gnomAD
BRIP1	Q9BX63	p.Ile562Val	RCV000160342	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780950T>C	ClinVar
BRIP1	Q9BX63	p.Ile562Val	rs45533636	missense variant	-	NC_000017.11:g.61780950T>C	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile562Val	RCV000456914	missense variant	Familial cancer of breast	NC_000017.11:g.61780950T>C	ClinVar
BRIP1	Q9BX63	p.Ile562Val	RCV000663029	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780950T>C	ClinVar
BRIP1	Q9BX63	p.Ile562Val	RCV000212314	missense variant	-	NC_000017.11:g.61780950T>C	ClinVar
BRIP1	Q9BX63	p.Asp563Gly	RCV000227822	missense variant	Familial cancer of breast	NC_000017.11:g.61780946T>C	ClinVar
BRIP1	Q9BX63	p.Asp563Gly	rs577768294	missense variant	-	NC_000017.11:g.61780946T>C	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp563Gly	RCV000587318	missense variant	-	NC_000017.11:g.61780946T>C	ClinVar
BRIP1	Q9BX63	p.Asp563Gly	RCV000218250	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780946T>C	ClinVar
BRIP1	Q9BX63	p.Ile564Thr	RCV000581220	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780943A>G	ClinVar
BRIP1	Q9BX63	p.Ile564Thr	RCV000686260	missense variant	Familial cancer of breast	NC_000017.11:g.61780943A>G	ClinVar
BRIP1	Q9BX63	p.Ile564Val	rs1555602569	missense variant	-	NC_000017.11:g.61780944T>C	-
BRIP1	Q9BX63	p.Ile564Thr	rs755635967	missense variant	-	NC_000017.11:g.61780943A>G	-
BRIP1	Q9BX63	p.Ile564Val	RCV000562168	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780944T>C	ClinVar
BRIP1	Q9BX63	p.Asp566AspIleSerAsnTerTyrPheAsnAsnUnk	rs878855140	stop gained	-	NC_000017.11:g.61780936_61780937insGTTGTTGAAATATCAATTTGATATA	-
BRIP1	Q9BX63	p.Asp566Asn	rs1289102059	missense variant	-	NC_000017.11:g.61780938C>T	gnomAD
BRIP1	Q9BX63	p.Lys567IleSerAsnTer	RCV000483400	nonsense	-	NC_000017.11:g.61780936_61780937insGTTGTTGAAATATCAATTTGATATA	ClinVar
BRIP1	Q9BX63	p.Lys567IleSerAsnTer	RCV000572341	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780936_61780937insGTTGTTGAAATATCAATTTGATATA	ClinVar
BRIP1	Q9BX63	p.Lys567IleSerAsnTer	RCV000232677	nonsense	Familial cancer of breast	NC_000017.11:g.61780936_61780937insGTTGTTGAAATATCAATTTGATATA	ClinVar
BRIP1	Q9BX63	p.Asn568Lys	RCV000636144	missense variant	Familial cancer of breast	NC_000017.11:g.61780930A>C	ClinVar
BRIP1	Q9BX63	p.Asn568Lys	RCV000221496	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780930A>C	ClinVar
BRIP1	Q9BX63	p.Asn568Lys	rs763458922	missense variant	-	NC_000017.11:g.61780930A>C	ExAC
BRIP1	Q9BX63	p.Asn568Ter	RCV000663330	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780934_61780935del	ClinVar
BRIP1	Q9BX63	p.Asn568Ter	RCV000416663	frameshift	Carcinoma of colon (CRC)	NC_000017.11:g.61780934_61780935del	ClinVar
BRIP1	Q9BX63	p.Asn568Ter	RCV000477976	frameshift	-	NC_000017.11:g.61780934_61780935del	ClinVar
BRIP1	Q9BX63	p.Asn568Ter	RCV000636137	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780934_61780935del	ClinVar
BRIP1	Q9BX63	p.Asn568Ter	RCV000570267	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780934_61780935del	ClinVar
BRIP1	Q9BX63	p.Gly569Ala	rs373228183	missense variant	-	NC_000017.11:g.61780928C>G	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly569Trp	rs1259933364	missense variant	-	NC_000017.11:g.61780929C>A	TOPMed
BRIP1	Q9BX63	p.Gly569Arg	RCV000636082	missense variant	Familial cancer of breast	NC_000017.11:g.61780929C>G	ClinVar
BRIP1	Q9BX63	p.Gly569Arg	rs1259933364	missense variant	-	NC_000017.11:g.61780929C>G	TOPMed
BRIP1	Q9BX63	p.Val572Phe	RCV000773588	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780920C>A	ClinVar
BRIP1	Q9BX63	p.Leu573Val	RCV000485697	missense variant	-	NC_000017.11:g.61780917G>C	ClinVar
BRIP1	Q9BX63	p.Leu573Val	RCV000533781	missense variant	Familial cancer of breast	NC_000017.11:g.61780917G>C	ClinVar
BRIP1	Q9BX63	p.Leu573Val	RCV000165469	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780917G>C	ClinVar
BRIP1	Q9BX63	p.Leu573Val	rs786202587	missense variant	-	NC_000017.11:g.61780917G>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro574Leu	rs377302300	missense variant	-	NC_000017.11:g.61780913G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro574Leu	RCV000230474	missense variant	Familial cancer of breast	NC_000017.11:g.61780913G>A	ClinVar
BRIP1	Q9BX63	p.Pro574Leu	RCV000484019	missense variant	-	NC_000017.11:g.61780913G>A	ClinVar
BRIP1	Q9BX63	p.Pro574Gln	RCV000776859	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780913G>T	ClinVar
BRIP1	Q9BX63	p.Pro574Leu	RCV000562779	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780913G>A	ClinVar
BRIP1	Q9BX63	p.Asn576LysPheSerTerUnk	rs587778131	frameshift	-	NC_000017.11:g.61780906_61780907insT	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asn576Ter	RCV000120390	frameshift	-	NC_000017.11:g.61780912dup	ClinVar
BRIP1	Q9BX63	p.Asn576Ser	rs587778132	missense variant	-	NC_000017.11:g.61780907T>C	-
BRIP1	Q9BX63	p.Asn576Ser	RCV000120391	missense variant	-	NC_000017.11:g.61780907T>C	ClinVar
BRIP1	Q9BX63	p.Lys577Met	rs1411869768	missense variant	-	NC_000017.11:g.61780904T>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys577Met	RCV000705294	missense variant	Familial cancer of breast	NC_000017.11:g.61780904T>A	ClinVar
BRIP1	Q9BX63	p.Arg579His	rs768224857	missense variant	-	NC_000017.11:g.61780898C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg579His	RCV000636129	missense variant	Familial cancer of breast	NC_000017.11:g.61780898C>T	ClinVar
BRIP1	Q9BX63	p.Arg579Leu	RCV000221005	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780898C>A	ClinVar
BRIP1	Q9BX63	p.Arg579His	RCV000775419	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780898C>T	ClinVar
BRIP1	Q9BX63	p.Arg579Cys	RCV000116130	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780899G>A	ClinVar
BRIP1	Q9BX63	p.Arg579Leu	rs768224857	missense variant	-	NC_000017.11:g.61780898C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg579Cys	rs28997571	missense variant	-	NC_000017.11:g.61780899G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg579Ser	rs28997571	missense variant	-	NC_000017.11:g.61780899G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser580Ala	rs746494295	missense variant	-	NC_000017.11:g.61780896A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser580Leu	rs1356014648	missense variant	-	NC_000017.11:g.61780895G>A	gnomAD
BRIP1	Q9BX63	p.Ser580Leu	RCV000551078	missense variant	Familial cancer of breast	NC_000017.11:g.61780895G>A	ClinVar
BRIP1	Q9BX63	p.Arg581Ter	rs780020495	stop gained	-	NC_000017.11:g.61780893G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg581Ter	RCV000785424	nonsense	Ovarian Neoplasms	NC_000017.11:g.61780893G>A	ClinVar
BRIP1	Q9BX63	p.Arg581Ter	RCV000568917	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780893G>A	ClinVar
BRIP1	Q9BX63	p.Arg581Ter	RCV000804787	nonsense	Familial cancer of breast	NC_000017.11:g.61780893G>A	ClinVar
BRIP1	Q9BX63	p.Arg581Ter	RCV000503203	nonsense	Breast cancer, early-onset	NC_000017.11:g.61780893G>A	ClinVar
BRIP1	Q9BX63	p.Arg581Gln	RCV000527065	missense variant	Familial cancer of breast	NC_000017.11:g.61780892C>T	ClinVar
BRIP1	Q9BX63	p.Arg581Gln	rs587778133	missense variant	-	NC_000017.11:g.61780892C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg581Gln	RCV000221625	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780892C>T	ClinVar
BRIP1	Q9BX63	p.Gln582Arg	rs750288231	missense variant	-	NC_000017.11:g.61780889T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Lys583Arg	RCV000222420	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780886T>C	ClinVar
BRIP1	Q9BX63	p.Lys583Arg	RCV000535277	missense variant	Familial cancer of breast	NC_000017.11:g.61780886T>C	ClinVar
BRIP1	Q9BX63	p.Lys583Arg	rs876658547	missense variant	-	NC_000017.11:g.61780886T>C	TOPMed
BRIP1	Q9BX63	p.Ala585Glu	RCV000636131	missense variant	Familial cancer of breast	NC_000017.11:g.61780880G>T	ClinVar
BRIP1	Q9BX63	p.Ala585Leu	RCV000563409	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780880_61780881delinsAA	ClinVar
BRIP1	Q9BX63	p.Ala585Glu	RCV000589026	missense variant	-	NC_000017.11:g.61780880G>T	ClinVar
BRIP1	Q9BX63	p.Ala585Glu	RCV000219324	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780880G>T	ClinVar
BRIP1	Q9BX63	p.Ala585Glu	rs756946068	missense variant	-	NC_000017.11:g.61780880G>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala585Leu	rs1555602479	missense variant	-	NC_000017.11:g.61780880_61780881delinsAA	-
BRIP1	Q9BX63	p.Ala585Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61780880G>A	NCI-TCGA
BRIP1	Q9BX63	p.His587Leu	rs876660646	missense variant	-	NC_000017.11:g.61780874T>A	-
BRIP1	Q9BX63	p.His587Leu	RCV000460900	missense variant	Familial cancer of breast	NC_000017.11:g.61780874T>A	ClinVar
BRIP1	Q9BX63	p.His587Asp	RCV000662848	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780875G>C	ClinVar
BRIP1	Q9BX63	p.His587Asp	RCV000218989	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780875G>C	ClinVar
BRIP1	Q9BX63	p.His587Leu	RCV000219246	missense variant	-	NC_000017.11:g.61780874T>A	ClinVar
BRIP1	Q9BX63	p.His587Asp	RCV000482369	missense variant	-	NC_000017.11:g.61780875G>C	ClinVar
BRIP1	Q9BX63	p.His587Asp	RCV000473133	missense variant	Familial cancer of breast	NC_000017.11:g.61780875G>C	ClinVar
BRIP1	Q9BX63	p.His587Leu	RCV000662901	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780874T>A	ClinVar
BRIP1	Q9BX63	p.His587Leu	RCV000216569	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780874T>A	ClinVar
BRIP1	Q9BX63	p.His587Asp	rs876660519	missense variant	-	NC_000017.11:g.61780875G>C	-
BRIP1	Q9BX63	p.Val588Met	RCV000220033	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780872C>T	ClinVar
BRIP1	Q9BX63	p.Val588Met	RCV000527441	missense variant	Familial cancer of breast	NC_000017.11:g.61780872C>T	ClinVar
BRIP1	Q9BX63	p.Val588Met	rs876660355	missense variant	-	NC_000017.11:g.61780872C>T	-
BRIP1	Q9BX63	p.Leu589Val	rs1442606786	missense variant	-	NC_000017.11:g.61780869G>C	TOPMed
BRIP1	Q9BX63	p.Asn590Tyr	RCV000774359	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780866T>A	ClinVar
BRIP1	Q9BX63	p.Phe591Ile	RCV000234466	missense variant	Familial cancer of breast	NC_000017.11:g.61780863A>T	ClinVar
BRIP1	Q9BX63	p.Phe591Ile	RCV000565787	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780863A>T	ClinVar
BRIP1	Q9BX63	p.Phe591Ile	RCV000217380	missense variant	-	NC_000017.11:g.61780863A>T	ClinVar
BRIP1	Q9BX63	p.Phe591Ile	rs876661057	missense variant	-	NC_000017.11:g.61780863A>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Trp592Ter	RCV000215063	nonsense	-	NC_000017.11:g.61780858C>T	ClinVar
BRIP1	Q9BX63	p.Trp592Gly	RCV000116131	missense variant	-	NC_000017.11:g.61780860A>C	ClinVar
BRIP1	Q9BX63	p.Trp592Gly	RCV000323088	missense variant	Neoplasm of the breast	NC_000017.11:g.61780860A>C	ClinVar
BRIP1	Q9BX63	p.Trp592Ter	rs753023295	stop gained	-	NC_000017.11:g.61780858C>T	ExAC
BRIP1	Q9BX63	p.Trp592Gly	rs587780231	missense variant	-	NC_000017.11:g.61780860A>C	-
BRIP1	Q9BX63	p.Trp592Gly	RCV000380078	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61780860A>C	ClinVar
BRIP1	Q9BX63	p.Leu594Phe	RCV000687730	missense variant	Familial cancer of breast	NC_000017.11:g.61780852T>A	ClinVar
BRIP1	Q9BX63	p.Leu594Val	RCV000218008	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780854A>C	ClinVar
BRIP1	Q9BX63	p.Leu594Ser	RCV000457619	missense variant	Familial cancer of breast	NC_000017.11:g.61780853A>G	ClinVar
BRIP1	Q9BX63	p.Leu594Ser	rs587781559	missense variant	-	NC_000017.11:g.61780853A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu594Val	rs876658256	missense variant	-	NC_000017.11:g.61780854A>C	-
BRIP1	Q9BX63	p.Leu594Ser	RCV000129578	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780853A>G	ClinVar
BRIP1	Q9BX63	p.Asn595Ser	rs759727507	missense variant	-	NC_000017.11:g.61780850T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Pro596Leu	RCV000205584	missense variant	Familial cancer of breast	NC_000017.11:g.61780847G>A	ClinVar
BRIP1	Q9BX63	p.Pro596Leu	RCV000564548	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780847G>A	ClinVar
BRIP1	Q9BX63	p.Pro596Leu	rs864622155	missense variant	-	NC_000017.11:g.61780847G>A	-
BRIP1	Q9BX63	p.Ala597Gly	RCV000475483	missense variant	Familial cancer of breast	NC_000017.11:g.61780844G>C	ClinVar
BRIP1	Q9BX63	p.Ala597Val	rs751667661	missense variant	-	NC_000017.11:g.61780844G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala597Gly	rs751667661	missense variant	-	NC_000017.11:g.61780844G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Val598Ala	rs876658510	missense variant	-	NC_000017.11:g.61780841A>G	-
BRIP1	Q9BX63	p.Val598Ala	RCV000222289	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780841A>G	ClinVar
BRIP1	Q9BX63	p.Val598Ter	RCV000696107	frameshift	Familial cancer of breast	NC_000017.11:g.61780843del	ClinVar
BRIP1	Q9BX63	p.Phe600Leu	RCV000226896	missense variant	Familial cancer of breast	NC_000017.11:g.61780398A>G	ClinVar
BRIP1	Q9BX63	p.Phe600Leu	rs745367580	missense variant	-	NC_000017.11:g.61780398A>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Phe600Leu	rs375625993	missense variant	-	NC_000017.11:g.61780396A>C	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser601Ala	rs1317946589	missense variant	-	NC_000017.11:g.61780395A>C	gnomAD
BRIP1	Q9BX63	p.Ser601Ala	RCV000758990	missense variant	-	NC_000017.11:g.61780395A>C	ClinVar
BRIP1	Q9BX63	p.Ser601Pro	COSM1589087	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780395A>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asp602Tyr	RCV000758991	missense variant	-	NC_000017.11:g.61780392C>A	ClinVar
BRIP1	Q9BX63	p.Asp602Gly	RCV000580936	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780391T>C	ClinVar
BRIP1	Q9BX63	p.Asp602Tyr	rs770750488	missense variant	-	NC_000017.11:g.61780392C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp602Gly	rs1555602221	missense variant	-	NC_000017.11:g.61780391T>C	-
BRIP1	Q9BX63	p.Ile603Asn	rs1555602215	missense variant	-	NC_000017.11:g.61780388A>T	-
BRIP1	Q9BX63	p.Ile603Thr	rs1555602215	missense variant	-	NC_000017.11:g.61780388A>G	-
BRIP1	Q9BX63	p.Ile603Asn	RCV000796590	missense variant	Familial cancer of breast	NC_000017.11:g.61780388A>T	ClinVar
BRIP1	Q9BX63	p.Ile603Thr	RCV000780066	missense variant	-	NC_000017.11:g.61780388A>G	ClinVar
BRIP1	Q9BX63	p.Ile603Thr	RCV000570378	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780388A>G	ClinVar
BRIP1	Q9BX63	p.Ile603Asn	RCV000568486	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780388A>T	ClinVar
BRIP1	Q9BX63	p.Asn604Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61780385T>C	NCI-TCGA
BRIP1	Q9BX63	p.Lys606Gln	rs1386348664	missense variant	-	NC_000017.11:g.61780380T>G	gnomAD
BRIP1	Q9BX63	p.Lys606Gln	RCV000566521	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780380T>G	ClinVar
BRIP1	Q9BX63	p.Gln608His	RCV000697689	missense variant	Familial cancer of breast	NC_000017.11:g.61780372C>G	ClinVar
BRIP1	Q9BX63	p.Thr609Ala	RCV000590700	missense variant	-	NC_000017.11:g.61780371T>C	ClinVar
BRIP1	Q9BX63	p.Thr609Ala	rs189758577	missense variant	-	NC_000017.11:g.61780371T>C	1000Genomes
BRIP1	Q9BX63	p.Thr609Ala	RCV000528910	missense variant	Familial cancer of breast	NC_000017.11:g.61780371T>C	ClinVar
BRIP1	Q9BX63	p.Thr609Ala	RCV000581727	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780371T>C	ClinVar
BRIP1	Q9BX63	p.Ile610Val	rs749200646	missense variant	-	NC_000017.11:g.61780368T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Val611Ile	RCV000480949	missense variant	-	NC_000017.11:g.61780365C>T	ClinVar
BRIP1	Q9BX63	p.Val611Ile	RCV000165836	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780365C>T	ClinVar
BRIP1	Q9BX63	p.Val611Ile	RCV000662932	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780365C>T	ClinVar
BRIP1	Q9BX63	p.Val611Ile	RCV000233742	missense variant	Familial cancer of breast	NC_000017.11:g.61780365C>T	ClinVar
BRIP1	Q9BX63	p.Val611Ile	rs777741543	missense variant	-	NC_000017.11:g.61780365C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Val611Ter	RCV000685488	frameshift	Familial cancer of breast	NC_000017.11:g.61780365del	ClinVar
BRIP1	Q9BX63	p.Thr613Ile	rs864622345	missense variant	-	NC_000017.11:g.61780358G>A	TOPMed
BRIP1	Q9BX63	p.Thr613Ile	RCV000204974	missense variant	Familial cancer of breast	NC_000017.11:g.61780358G>A	ClinVar
BRIP1	Q9BX63	p.Thr613Ile	RCV000569552	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780358G>A	ClinVar
BRIP1	Q9BX63	p.Thr613Arg	rs864622345	missense variant	-	NC_000017.11:g.61780358G>C	TOPMed
BRIP1	Q9BX63	p.Gly615Ser	rs1555602203	missense variant	-	NC_000017.11:g.61780353C>T	-
BRIP1	Q9BX63	p.Gly615Ser	RCV000573312	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780353C>T	ClinVar
BRIP1	Q9BX63	p.Thr616Ala	rs1397233707	missense variant	-	NC_000017.11:g.61780350T>C	gnomAD
BRIP1	Q9BX63	p.Leu617Ser	rs1064794095	missense variant	-	NC_000017.11:g.61780346A>G	gnomAD
BRIP1	Q9BX63	p.Leu617Ser	RCV000554110	missense variant	Familial cancer of breast	NC_000017.11:g.61780346A>G	ClinVar
BRIP1	Q9BX63	p.Leu617Ser	RCV000487183	missense variant	-	NC_000017.11:g.61780346A>G	ClinVar
BRIP1	Q9BX63	p.Ser618Pro	RCV000456484	missense variant	Familial cancer of breast	NC_000017.11:g.61780344A>G	ClinVar
BRIP1	Q9BX63	p.Ser618Pro	RCV000221008	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780344A>G	ClinVar
BRIP1	Q9BX63	p.Ser618Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61780343G>C	NCI-TCGA
BRIP1	Q9BX63	p.Ser618Pro	rs876660191	missense variant	-	NC_000017.11:g.61780344A>G	-
BRIP1	Q9BX63	p.Pro619Ter	RCV000556616	frameshift	Familial cancer of breast	NC_000017.11:g.61780342_61780343insC	ClinVar
BRIP1	Q9BX63	p.Pro619Ter	RCV000576417	frameshift	Neoplasm of ovary	NC_000017.11:g.61780342_61780343insC	ClinVar
BRIP1	Q9BX63	p.Pro619Ter	RCV000130385	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780342_61780343insC	ClinVar
BRIP1	Q9BX63	p.Pro619Ter	RCV000409999	frameshift	Neoplasm of ovary	NC_000017.11:g.61780342_61780343insC	ClinVar
BRIP1	Q9BX63	p.Pro619Ter	RCV000412318	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780342_61780343insC	ClinVar
BRIP1	Q9BX63	p.Pro619Ter	RCV000522061	frameshift	-	NC_000017.11:g.61780342_61780343insC	ClinVar
BRIP1	Q9BX63	p.Met620Lys	RCV000530129	missense variant	Familial cancer of breast	NC_000017.11:g.61780337A>T	ClinVar
BRIP1	Q9BX63	p.Met620Val	RCV000220360	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780338T>C	ClinVar
BRIP1	Q9BX63	p.Met620Val	rs876658346	missense variant	-	NC_000017.11:g.61780338T>C	-
BRIP1	Q9BX63	p.Met620Lys	rs1555602185	missense variant	-	NC_000017.11:g.61780337A>T	-
BRIP1	Q9BX63	p.Met620Lys	RCV000580589	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780337A>T	ClinVar
BRIP1	Q9BX63	p.Met620Arg	COSM1385010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780337A>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Met620Ile	COSM1589088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780336C>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Phe623Ile	rs864622438	missense variant	-	NC_000017.11:g.61780329A>T	-
BRIP1	Q9BX63	p.Phe623Ile	RCV000206329	missense variant	Familial cancer of breast	NC_000017.11:g.61780329A>T	ClinVar
BRIP1	Q9BX63	p.Ser624Ter	RCV000589135	nonsense	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61780325G>T	ClinVar
BRIP1	Q9BX63	p.Ser624Ter	RCV000254651	nonsense	-	NC_000017.11:g.61780325G>T	ClinVar
BRIP1	Q9BX63	p.Ser624Leu	RCV000197937	missense variant	Familial cancer of breast	NC_000017.11:g.61780325G>A	ClinVar
BRIP1	Q9BX63	p.Ser624Ter	RCV000576387	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780325G>T	ClinVar
BRIP1	Q9BX63	p.Ser624Leu	RCV000411705	missense variant	Neoplasm of ovary	NC_000017.11:g.61780325G>A	ClinVar
BRIP1	Q9BX63	p.Ser624Ter	rs587781321	stop gained	-	NC_000017.11:g.61780325G>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser624Leu	rs587781321	missense variant	-	NC_000017.11:g.61780325G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser624Leu	RCV000284654	missense variant	-	NC_000017.11:g.61780325G>A	ClinVar
BRIP1	Q9BX63	p.Ser624Ter	RCV000129060	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780325G>T	ClinVar
BRIP1	Q9BX63	p.Ser624Leu	RCV000410706	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780325G>A	ClinVar
BRIP1	Q9BX63	p.Ser624Leu	RCV000166032	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780325G>A	ClinVar
BRIP1	Q9BX63	p.Ser624Ter	RCV000228701	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780325G>T	ClinVar
BRIP1	Q9BX63	p.Ser625Pro	rs935011040	missense variant	-	NC_000017.11:g.61780323A>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser625Pro	RCV000758992	missense variant	-	NC_000017.11:g.61780323A>G	ClinVar
BRIP1	Q9BX63	p.Ser625Pro	RCV000568571	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780323A>G	ClinVar
BRIP1	Q9BX63	p.Glu626Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61780320C>T	NCI-TCGA
BRIP1	Q9BX63	p.Leu627His	RCV000777527	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780316A>T	ClinVar
BRIP1	Q9BX63	p.Gly628Asp	rs1064794907	missense variant	-	NC_000017.11:g.61780313C>T	-
BRIP1	Q9BX63	p.Gly628Tyr	RCV000565485	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780313_61780314delinsTA	ClinVar
BRIP1	Q9BX63	p.Gly628Tyr	rs1555602175	missense variant	-	NC_000017.11:g.61780313_61780314delinsTA	-
BRIP1	Q9BX63	p.Gly628Val	RCV000478238	missense variant	-	NC_000017.11:g.61780313C>A	ClinVar
BRIP1	Q9BX63	p.Gly628Val	rs1064794907	missense variant	-	NC_000017.11:g.61780313C>A	-
BRIP1	Q9BX63	p.Gly628Val	RCV000818704	missense variant	Familial cancer of breast	NC_000017.11:g.61780313C>A	ClinVar
BRIP1	Q9BX63	p.Gly628Asp	RCV000583129	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780313C>T	ClinVar
BRIP1	Q9BX63	p.Val629Leu	RCV000576145	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780311C>G	ClinVar
BRIP1	Q9BX63	p.Val629Leu	rs1555602164	missense variant	-	NC_000017.11:g.61780311C>G	-
BRIP1	Q9BX63	p.Thr630Ter	RCV000487110	frameshift	-	NC_000017.11:g.61780307del	ClinVar
BRIP1	Q9BX63	p.Thr630Ter	RCV000584348	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780308dup	ClinVar
BRIP1	Q9BX63	p.Thr630Lys	RCV000636128	missense variant	Familial cancer of breast	NC_000017.11:g.61780307G>T	ClinVar
BRIP1	Q9BX63	p.Thr630Lys	rs780407946	missense variant	-	NC_000017.11:g.61780307G>T	ExAC
BRIP1	Q9BX63	p.Phe631Ter	RCV000581967	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780306del	ClinVar
BRIP1	Q9BX63	p.Thr632Ala	RCV000576027	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780302T>C	ClinVar
BRIP1	Q9BX63	p.Thr632Ala	rs1555602149	missense variant	-	NC_000017.11:g.61780302T>C	-
BRIP1	Q9BX63	p.Ile633Leu	RCV000217145	missense variant	-	NC_000017.11:g.61780299T>G	ClinVar
BRIP1	Q9BX63	p.Ile633Leu	RCV000164796	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780299T>G	ClinVar
BRIP1	Q9BX63	p.Ile633Val	rs765314472	missense variant	-	NC_000017.11:g.61780299T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile633Met	RCV000662814	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780297G>C	ClinVar
BRIP1	Q9BX63	p.Ile633Leu	RCV000457977	missense variant	Familial cancer of breast	NC_000017.11:g.61780299T>G	ClinVar
BRIP1	Q9BX63	p.Ile633Thr	RCV000546290	missense variant	Familial cancer of breast	NC_000017.11:g.61780298A>G	ClinVar
BRIP1	Q9BX63	p.Ile633Thr	RCV000116132	missense variant	-	NC_000017.11:g.61780298A>G	ClinVar
BRIP1	Q9BX63	p.Ile633Met	RCV000781165	missense variant	-	NC_000017.11:g.61780297G>C	ClinVar
BRIP1	Q9BX63	p.Ile633Met	RCV000220030	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780297G>C	ClinVar
BRIP1	Q9BX63	p.Ile633Met	RCV000234693	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780297G>C	ClinVar
BRIP1	Q9BX63	p.Ile633Leu	rs765314472	missense variant	-	NC_000017.11:g.61780299T>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile633Met	rs28997572	missense variant	-	NC_000017.11:g.61780297G>C	UniProt,dbSNP
BRIP1	Q9BX63	p.Ile633Met	VAR_052192	missense variant	-	NC_000017.11:g.61780297G>C	UniProt
BRIP1	Q9BX63	p.Ile633Thr	rs587780232	missense variant	-	NC_000017.11:g.61780298A>G	-
BRIP1	Q9BX63	p.Ile633Met	rs28997572	missense variant	-	NC_000017.11:g.61780297G>C	ExAC,TOPMed
BRIP1	Q9BX63	p.Gln634His	rs1060501748	missense variant	-	NC_000017.11:g.61780294C>G	-
BRIP1	Q9BX63	p.Gln634His	RCV000468940	missense variant	Familial cancer of breast	NC_000017.11:g.61780294C>G	ClinVar
BRIP1	Q9BX63	p.Leu635Met	rs754280136	missense variant	-	NC_000017.11:g.61780293G>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu636Lys	rs1060501769	missense variant	-	NC_000017.11:g.61780290C>T	-
BRIP1	Q9BX63	p.Glu636Lys	RCV000467890	missense variant	Familial cancer of breast	NC_000017.11:g.61780290C>T	ClinVar
BRIP1	Q9BX63	p.Ala637Ser	rs541203428	missense variant	-	NC_000017.11:g.61780287C>A	1000Genomes
BRIP1	Q9BX63	p.Ile640Thr	RCV000709545	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61780277A>G	ClinVar
BRIP1	Q9BX63	p.Ile640Met	COSM4390375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780276G>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ile641Thr	rs1555602126	missense variant	-	NC_000017.11:g.61780274A>G	-
BRIP1	Q9BX63	p.Ile641Thr	RCV000565083	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780274A>G	ClinVar
BRIP1	Q9BX63	p.Lys642Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61780270T>A	NCI-TCGA
BRIP1	Q9BX63	p.Ser644Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61780266A>C	NCI-TCGA
BRIP1	Q9BX63	p.Ser644Leu	COSM3520432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61780265G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Gln645Arg	RCV000216298	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780262T>C	ClinVar
BRIP1	Q9BX63	p.Gln645His	rs1254051324	missense variant	-	NC_000017.11:g.61780261C>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln645His	RCV000571285	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61780261C>G	ClinVar
BRIP1	Q9BX63	p.Gln645His	RCV000636187	missense variant	Familial cancer of breast	NC_000017.11:g.61780261C>G	ClinVar
BRIP1	Q9BX63	p.Gln645Arg	rs876660648	missense variant	-	NC_000017.11:g.61780262T>C	-
BRIP1	Q9BX63	p.Trp647Cys	rs786202760	missense variant	-	NC_000017.11:g.61776557C>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Trp647Cys	RCV000412383	missense variant	Neoplasm of ovary	NC_000017.11:g.61776557C>A	ClinVar
BRIP1	Q9BX63	p.Trp647Ter	RCV000565890	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776557C>T	ClinVar
BRIP1	Q9BX63	p.Trp647Cys	RCV000165735	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776557C>A	ClinVar
BRIP1	Q9BX63	p.Trp647Ter	RCV000690470	nonsense	Familial cancer of breast	NC_000017.11:g.61776557C>T	ClinVar
BRIP1	Q9BX63	p.Trp647Ter	RCV000584404	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776558C>T	ClinVar
BRIP1	Q9BX63	p.Trp647Cys	RCV000542964	missense variant	Familial cancer of breast	NC_000017.11:g.61776557C>A	ClinVar
BRIP1	Q9BX63	p.Trp647Cys	RCV000410856	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776557C>A	ClinVar
BRIP1	Q9BX63	p.Trp647Cys	RCV000709542	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776557C>G	ClinVar
BRIP1	Q9BX63	p.Trp647Ter	rs1555601203	stop gained	-	NC_000017.11:g.61776558C>T	-
BRIP1	Q9BX63	p.Trp647Cys	rs786202760	missense variant	-	NC_000017.11:g.61776557C>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Trp647Cys	rs786202760	missense variant	Fanconi anemia complementation group J (FANCJ)	NC_000017.11:g.61776557C>A	UniProt,dbSNP
BRIP1	Q9BX63	p.Trp647Cys	VAR_023703	missense variant	Fanconi anemia complementation group J (FANCJ)	NC_000017.11:g.61776557C>A	UniProt
BRIP1	Q9BX63	p.Trp647Ter	rs786202760	stop gained	-	NC_000017.11:g.61776557C>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Val648Ile	RCV000223303	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776556C>T	ClinVar
BRIP1	Q9BX63	p.Val648Ile	RCV000469719	missense variant	Familial cancer of breast	NC_000017.11:g.61776556C>T	ClinVar
BRIP1	Q9BX63	p.Val648Ile	rs780475484	missense variant	-	NC_000017.11:g.61776556C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly649Ala	RCV000204591	missense variant	Familial cancer of breast	NC_000017.11:g.61776552C>G	ClinVar
BRIP1	Q9BX63	p.Gly649Asp	rs746066323	missense variant	-	NC_000017.11:g.61776552C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly649Ala	rs746066323	missense variant	-	NC_000017.11:g.61776552C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr650Ile	COSM69848	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776549G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ile651Asn	rs757305097	missense variant	-	NC_000017.11:g.61776546A>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile651Thr	rs757305097	missense variant	-	NC_000017.11:g.61776546A>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile651Thr	RCV000218247	missense variant	-	NC_000017.11:g.61776546A>G	ClinVar
BRIP1	Q9BX63	p.Ile651Thr	RCV000230038	missense variant	Familial cancer of breast	NC_000017.11:g.61776546A>G	ClinVar
BRIP1	Q9BX63	p.Ile651Thr	RCV000222634	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776546A>G	ClinVar
BRIP1	Q9BX63	p.Ile651Asn	RCV000580391	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776546A>T	ClinVar
BRIP1	Q9BX63	p.Ile651Val	rs778867622	missense variant	-	NC_000017.11:g.61776547T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly652Arg	rs1555601190	missense variant	-	NC_000017.11:g.61776544C>T	-
BRIP1	Q9BX63	p.Gly652Arg	RCV000581407	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776544C>T	ClinVar
BRIP1	Q9BX63	p.Ser653Leu	RCV000221905	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776540G>A	ClinVar
BRIP1	Q9BX63	p.Ser653Leu	RCV000798098	missense variant	Familial cancer of breast	NC_000017.11:g.61776540G>A	ClinVar
BRIP1	Q9BX63	p.Ser653Leu	rs756511744	missense variant	-	NC_000017.11:g.61776540G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser653Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61776540G>C	NCI-TCGA
BRIP1	Q9BX63	p.Gly654Ser	RCV000772413	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776538C>T	ClinVar
BRIP1	Q9BX63	p.Pro655Ser	RCV000570087	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776535G>A	ClinVar
BRIP1	Q9BX63	p.Pro655Ser	RCV000231802	missense variant	Familial cancer of breast	NC_000017.11:g.61776535G>A	ClinVar
BRIP1	Q9BX63	p.Pro655Arg	rs767872111	missense variant	-	NC_000017.11:g.61776534G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Pro655Ser	rs753036322	missense variant	-	NC_000017.11:g.61776535G>A	ExAC,TOPMed
BRIP1	Q9BX63	p.Lys656Asn	rs1064793415	missense variant	-	NC_000017.11:g.61776530C>A	gnomAD
BRIP1	Q9BX63	p.Lys656Thr	rs1322017079	missense variant	-	NC_000017.11:g.61776531T>G	TOPMed
BRIP1	Q9BX63	p.Lys656Arg	RCV000695284	missense variant	Familial cancer of breast	NC_000017.11:g.61776531T>C	ClinVar
BRIP1	Q9BX63	p.Lys656Asn	RCV000480342	missense variant	-	NC_000017.11:g.61776530C>A	ClinVar
BRIP1	Q9BX63	p.Gly657Ter	RCV000537071	frameshift	Familial cancer of breast	NC_000017.11:g.61776530del	ClinVar
BRIP1	Q9BX63	p.Gly657Ter	RCV000583417	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776530del	ClinVar
BRIP1	Q9BX63	p.Gly657Arg	rs1051619247	missense variant	-	NC_000017.11:g.61776529C>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg658Gln	RCV000460306	missense variant	Familial cancer of breast	NC_000017.11:g.61776525C>T	ClinVar
BRIP1	Q9BX63	p.Arg658Gln	RCV000575276	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776525C>T	ClinVar
BRIP1	Q9BX63	p.Arg658Gln	rs759142191	missense variant	-	NC_000017.11:g.61776525C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg658Trp	rs786203170	missense variant	-	NC_000017.11:g.61776526G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg658Gln	RCV000781168	missense variant	-	NC_000017.11:g.61776525C>T	ClinVar
BRIP1	Q9BX63	p.Arg658Trp	RCV000409454	missense variant	Neoplasm of ovary	NC_000017.11:g.61776526G>A	ClinVar
BRIP1	Q9BX63	p.Arg658Trp	RCV000166362	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776526G>A	ClinVar
BRIP1	Q9BX63	p.Arg658Trp	RCV000411903	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776526G>A	ClinVar
BRIP1	Q9BX63	p.Arg658Trp	RCV000205396	missense variant	Familial cancer of breast	NC_000017.11:g.61776526G>A	ClinVar
BRIP1	Q9BX63	p.Arg658Gly	RCV000774222	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776526G>C	ClinVar
BRIP1	Q9BX63	p.Asn659Ser	rs1213142447	missense variant	-	NC_000017.11:g.61776522T>C	TOPMed
BRIP1	Q9BX63	p.Asn659Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61776522T>G	NCI-TCGA
BRIP1	Q9BX63	p.Leu660Phe	RCV000775735	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776520G>A	ClinVar
BRIP1	Q9BX63	p.Leu660Phe	rs1060501746	missense variant	-	NC_000017.11:g.61776520G>A	-
BRIP1	Q9BX63	p.Leu660Phe	RCV000464396	missense variant	Familial cancer of breast	NC_000017.11:g.61776520G>A	ClinVar
BRIP1	Q9BX63	p.Cys661Gly	RCV000213851	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776517A>C	ClinVar
BRIP1	Q9BX63	p.Cys661Ser	rs1160736353	missense variant	-	NC_000017.11:g.61776516C>G	gnomAD
BRIP1	Q9BX63	p.Cys661Gly	rs876660402	missense variant	-	NC_000017.11:g.61776517A>C	gnomAD
BRIP1	Q9BX63	p.Cys661Arg	rs876660402	missense variant	-	NC_000017.11:g.61776517A>G	gnomAD
BRIP1	Q9BX63	p.Cys661Tyr	RCV000568340	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776516C>T	ClinVar
BRIP1	Q9BX63	p.Cys661Tyr	rs1160736353	missense variant	-	NC_000017.11:g.61776516C>T	gnomAD
BRIP1	Q9BX63	p.Ala662Thr	RCV000167392	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776514C>T	ClinVar
BRIP1	Q9BX63	p.Ala662Thr	RCV000521753	missense variant	-	NC_000017.11:g.61776514C>T	ClinVar
BRIP1	Q9BX63	p.Ala662Pro	rs571340013	missense variant	-	NC_000017.11:g.61776514C>G	1000Genomes,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala662Thr	rs571340013	missense variant	-	NC_000017.11:g.61776514C>T	1000Genomes,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala662Thr	RCV000168048	missense variant	Familial cancer of breast	NC_000017.11:g.61776514C>T	ClinVar
BRIP1	Q9BX63	p.Thr663Ala	RCV000708687	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776511T>C	ClinVar
BRIP1	Q9BX63	p.Asn666Asp	rs765816425	missense variant	-	NC_000017.11:g.61776502T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Phe670Ser	rs1555601107	missense variant	-	NC_000017.11:g.61776489A>G	-
BRIP1	Q9BX63	p.Phe670Leu	rs762535496	missense variant	-	NC_000017.11:g.61776488A>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Phe670Ser	RCV000636174	missense variant	Familial cancer of breast	NC_000017.11:g.61776489A>G	ClinVar
BRIP1	Q9BX63	p.Glu671Ter	RCV000484507	nonsense	-	NC_000017.11:g.61776490dup	ClinVar
BRIP1	Q9BX63	p.Glu671Ter	RCV000205261	nonsense	Familial cancer of breast	NC_000017.11:g.61776490dup	ClinVar
BRIP1	Q9BX63	p.Glu671Ter	RCV000780061	nonsense	Familial cancer of breast	NC_000017.11:g.61776490dup	ClinVar
BRIP1	Q9BX63	p.Glu671Ter	RCV000167209	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776490dup	ClinVar
BRIP1	Q9BX63	p.Glu671Gly	RCV000120394	missense variant	-	NC_000017.11:g.61776486T>C	ClinVar
BRIP1	Q9BX63	p.Glu671Gly	rs587778135	missense variant	-	NC_000017.11:g.61776486T>C	TOPMed
BRIP1	Q9BX63	p.Glu671Gln	COSM1133498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776487C>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Phe672Ter	RCV000574351	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776483delinsGG	ClinVar
BRIP1	Q9BX63	p.Gln673Arg	rs786203619	missense variant	-	NC_000017.11:g.61776480T>C	-
BRIP1	Q9BX63	p.Gln673Arg	RCV000544477	missense variant	Familial cancer of breast	NC_000017.11:g.61776480T>C	ClinVar
BRIP1	Q9BX63	p.Gln673Arg	RCV000167010	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776480T>C	ClinVar
BRIP1	Q9BX63	p.Gln673Arg	RCV000759703	missense variant	-	NC_000017.11:g.61776480T>C	ClinVar
BRIP1	Q9BX63	p.Asp674Gly	rs1555601087	missense variant	-	NC_000017.11:g.61776477T>C	-
BRIP1	Q9BX63	p.Asp674Glu	RCV000580481	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776476A>T	ClinVar
BRIP1	Q9BX63	p.Asp674Gly	RCV000636077	missense variant	Familial cancer of breast	NC_000017.11:g.61776477T>C	ClinVar
BRIP1	Q9BX63	p.Asp674Asn	RCV000705505	missense variant	Familial cancer of breast	NC_000017.11:g.61776478C>T	ClinVar
BRIP1	Q9BX63	p.Asp674Glu	rs1555601084	missense variant	-	NC_000017.11:g.61776476A>T	-
BRIP1	Q9BX63	p.Asp674Tyr	COSM1135975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776478C>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Glu675Ala	RCV000575692	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776474T>G	ClinVar
BRIP1	Q9BX63	p.Glu675Ala	rs1555601081	missense variant	-	NC_000017.11:g.61776474T>G	-
BRIP1	Q9BX63	p.Val676Gly	RCV000566798	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776471A>C	ClinVar
BRIP1	Q9BX63	p.Val676Gly	rs1555601076	missense variant	-	NC_000017.11:g.61776471A>C	-
BRIP1	Q9BX63	p.Gly677Glu	RCV000686741	missense variant	Familial cancer of breast	NC_000017.11:g.61776468C>T	ClinVar
BRIP1	Q9BX63	p.Gly677Arg	RCV000562530	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776469C>T	ClinVar
BRIP1	Q9BX63	p.Gly677Ter	RCV000563344	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776470del	ClinVar
BRIP1	Q9BX63	p.Gly677Arg	rs1555601069	missense variant	-	NC_000017.11:g.61776469C>T	-
BRIP1	Q9BX63	p.Ala678Val	rs1211313166	missense variant	-	NC_000017.11:g.61776465G>A	gnomAD
BRIP1	Q9BX63	p.Leu679Phe	RCV000701584	missense variant	Familial cancer of breast	NC_000017.11:g.61776463G>A	ClinVar
BRIP1	Q9BX63	p.Leu679Phe	RCV000568892	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776463G>A	ClinVar
BRIP1	Q9BX63	p.Leu679Phe	rs1555601056	missense variant	-	NC_000017.11:g.61776463G>A	-
BRIP1	Q9BX63	p.Leu680Ter	RCV000582871	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776458_61776462del	ClinVar
BRIP1	Q9BX63	p.Leu680Ter	RCV000636139	frameshift	Familial cancer of breast	NC_000017.11:g.61776461_61776462del	ClinVar
BRIP1	Q9BX63	p.Val683Leu	rs773347072	missense variant	-	NC_000017.11:g.61776451C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Val683Gly	rs1294492499	missense variant	-	NC_000017.11:g.61776450A>C	gnomAD
BRIP1	Q9BX63	p.Val683Gly	RCV000698055	missense variant	Familial cancer of breast	NC_000017.11:g.61776450A>C	ClinVar
BRIP1	Q9BX63	p.Val683Gly	RCV000575611	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776450A>C	ClinVar
BRIP1	Q9BX63	p.Gln685Ter	RCV000663038	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776445G>A	ClinVar
BRIP1	Q9BX63	p.Gln685Ter	rs876659533	stop gained	-	NC_000017.11:g.61776445G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln685Pro	COSM1385006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776444T>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Thr686Ala	rs769820537	missense variant	-	NC_000017.11:g.61776442T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr686Ala	RCV000587464	missense variant	-	NC_000017.11:g.61776442T>C	ClinVar
BRIP1	Q9BX63	p.Thr686Ala	RCV000536608	missense variant	Familial cancer of breast	NC_000017.11:g.61776442T>C	ClinVar
BRIP1	Q9BX63	p.Val687Met	RCV000215398	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776439C>T	ClinVar
BRIP1	Q9BX63	p.Val687Ala	RCV000525384	missense variant	Familial cancer of breast	NC_000017.11:g.61776438A>G	ClinVar
BRIP1	Q9BX63	p.Val687Met	rs876659296	missense variant	-	NC_000017.11:g.61776439C>T	-
BRIP1	Q9BX63	p.Val687Ala	rs1555601030	missense variant	-	NC_000017.11:g.61776438A>G	-
BRIP1	Q9BX63	p.Gly690Glu	RCV000225925	missense variant	Familial cancer of breast	NC_000017.11:g.61776429C>T	ClinVar
BRIP1	Q9BX63	p.Gly690Glu	RCV000572253	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776429C>T	ClinVar
BRIP1	Q9BX63	p.Gly690Glu	rs878855144	missense variant	-	NC_000017.11:g.61776429C>T	-
BRIP1	Q9BX63	p.Ile691Leu	RCV000229910	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776427T>G	ClinVar
BRIP1	Q9BX63	p.Ile691Leu	RCV000410807	missense variant	Neoplasm of ovary	NC_000017.11:g.61776427T>G	ClinVar
BRIP1	Q9BX63	p.Ile691Leu	RCV000131304	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776427T>G	ClinVar
BRIP1	Q9BX63	p.Ile691Leu	RCV000212317	missense variant	-	NC_000017.11:g.61776427T>G	ClinVar
BRIP1	Q9BX63	p.Ile691Leu	RCV000409629	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776427T>G	ClinVar
BRIP1	Q9BX63	p.Ile691Leu	rs587782356	missense variant	-	NC_000017.11:g.61776427T>G	gnomAD
BRIP1	Q9BX63	p.Phe694Val	rs1465283737	missense variant	-	NC_000017.11:g.61776418A>C	gnomAD
BRIP1	Q9BX63	p.Phe694Leu	COSM6147713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61776416G>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Pro696Leu	rs147755155	missense variant	-	NC_000017.11:g.61776411G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro696Leu	RCV000204798	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776411G>A	ClinVar
BRIP1	Q9BX63	p.Pro696Leu	RCV000212318	missense variant	-	NC_000017.11:g.61776411G>A	ClinVar
BRIP1	Q9BX63	p.Pro696Leu	RCV000116135	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776411G>A	ClinVar
BRIP1	Q9BX63	p.Pro696Ter	RCV000461704	frameshift	Familial cancer of breast	NC_000017.11:g.61776413dup	ClinVar
BRIP1	Q9BX63	p.Pro696Leu	RCV000781170	missense variant	-	NC_000017.11:g.61776411G>A	ClinVar
BRIP1	Q9BX63	p.Pro696Leu	RCV000662731	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61776411G>A	ClinVar
BRIP1	Q9BX63	p.Tyr698Cys	RCV000759705	missense variant	-	NC_000017.11:g.61776405T>C	ClinVar
BRIP1	Q9BX63	p.Lys699Glu	RCV000573931	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61776403T>C	ClinVar
BRIP1	Q9BX63	p.Lys699Glu	rs1555601002	missense variant	-	NC_000017.11:g.61776403T>C	-
BRIP1	Q9BX63	p.Leu701Ser	rs876658270	missense variant	-	NC_000017.11:g.61744587A>G	-
BRIP1	Q9BX63	p.Leu701Ter	rs876658270	stop gained	-	NC_000017.11:g.61744587A>C	-
BRIP1	Q9BX63	p.Leu701Ter	RCV000423786	nonsense	-	NC_000017.11:g.61744587A>C	ClinVar
BRIP1	Q9BX63	p.Leu701Ser	RCV000222016	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744587A>G	ClinVar
BRIP1	Q9BX63	p.Glu702Gln	RCV000573366	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744585C>G	ClinVar
BRIP1	Q9BX63	p.Glu702Gln	rs1555591547	missense variant	-	NC_000017.11:g.61744585C>G	-
BRIP1	Q9BX63	p.Lys703Gln	RCV000579457	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744582T>G	ClinVar
BRIP1	Q9BX63	p.Lys703Ile	rs756412722	missense variant	-	NC_000017.11:g.61744581T>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Lys703Gln	rs762590242	missense variant	-	NC_000017.11:g.61744582T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu704Ter	RCV000636132	nonsense	Familial cancer of breast	NC_000017.11:g.61744578A>T	ClinVar
BRIP1	Q9BX63	p.Leu704Ter	rs1057517643	stop gained	-	NC_000017.11:g.61744578A>T	-
BRIP1	Q9BX63	p.Lys705Ter	RCV000216913	frameshift	-	NC_000017.11:g.61744573_61744577del	ClinVar
BRIP1	Q9BX63	p.Lys705Ter	RCV000569882	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744573_61744577del	ClinVar
BRIP1	Q9BX63	p.Lys705Ter	RCV000204583	frameshift	Familial cancer of breast	NC_000017.11:g.61744573_61744577del	ClinVar
BRIP1	Q9BX63	p.Lys705Ter	RCV000662725	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61744573_61744577del	ClinVar
BRIP1	Q9BX63	p.Arg707Cys	RCV000213828	missense variant	-	NC_000017.11:g.61744570G>A	ClinVar
BRIP1	Q9BX63	p.Arg707Cys	RCV000561689	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744570G>A	ClinVar
BRIP1	Q9BX63	p.Arg707Leu	RCV000584331	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744569C>A	ClinVar
BRIP1	Q9BX63	p.Arg707His	RCV000702861	missense variant	Familial cancer of breast	NC_000017.11:g.61744569C>T	ClinVar
BRIP1	Q9BX63	p.Arg707His	RCV000480168	missense variant	-	NC_000017.11:g.61744569C>T	ClinVar
BRIP1	Q9BX63	p.Arg707His	RCV000583533	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744569C>T	ClinVar
BRIP1	Q9BX63	p.Arg707Cys	RCV000227729	missense variant	Familial cancer of breast	NC_000017.11:g.61744570G>A	ClinVar
BRIP1	Q9BX63	p.Arg707Leu	RCV000475605	missense variant	Familial cancer of breast	NC_000017.11:g.61744569C>A	ClinVar
BRIP1	Q9BX63	p.Arg707Leu	rs200313471	missense variant	-	NC_000017.11:g.61744569C>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg707Cys	rs764803896	missense variant	-	NC_000017.11:g.61744570G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg707His	rs200313471	missense variant	-	NC_000017.11:g.61744569C>T	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Trp708Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61744565C>G	NCI-TCGA
BRIP1	Q9BX63	p.Leu709Pro	RCV000776961	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744563A>G	ClinVar
BRIP1	Q9BX63	p.Ser710Ala	rs1555591505	missense variant	-	NC_000017.11:g.61744561A>C	-
BRIP1	Q9BX63	p.Ser710Cys	rs768393936	missense variant	-	NC_000017.11:g.61744560G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser710Phe	rs768393936	missense variant	-	NC_000017.11:g.61744560G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser710Ala	RCV000580045	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744561A>C	ClinVar
BRIP1	Q9BX63	p.Thr711Ile	rs1248938894	missense variant	-	NC_000017.11:g.61744557G>A	TOPMed
BRIP1	Q9BX63	p.Thr711Ala	RCV000781187	missense variant	-	NC_000017.11:g.61744558T>C	ClinVar
BRIP1	Q9BX63	p.Thr711Ala	RCV000568562	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744558T>C	ClinVar
BRIP1	Q9BX63	p.Thr711Ala	RCV000526515	missense variant	Familial cancer of breast	NC_000017.11:g.61744558T>C	ClinVar
BRIP1	Q9BX63	p.Thr711Ala	rs760515227	missense variant	-	NC_000017.11:g.61744558T>C	ExAC
BRIP1	Q9BX63	p.Gly712Ter	RCV000692158	frameshift	Familial cancer of breast	NC_000017.11:g.61744556del	ClinVar
BRIP1	Q9BX63	p.Gly712Val	rs1060501755	missense variant	-	NC_000017.11:g.61744554C>A	gnomAD
BRIP1	Q9BX63	p.Gly712Asp	rs1060501755	missense variant	-	NC_000017.11:g.61744554C>T	gnomAD
BRIP1	Q9BX63	p.Gly712Val	RCV000468222	missense variant	Familial cancer of breast	NC_000017.11:g.61744554C>A	ClinVar
BRIP1	Q9BX63	p.Leu713Ter	RCV000229169	nonsense	Familial cancer of breast	NC_000017.11:g.61744551A>C	ClinVar
BRIP1	Q9BX63	p.Leu713Ter	rs878855145	stop gained	-	NC_000017.11:g.61744551A>C	-
BRIP1	Q9BX63	p.Trp714Ter	RCV000776601	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744547C>T	ClinVar
BRIP1	Q9BX63	p.His715Arg	rs1253181575	missense variant	-	NC_000017.11:g.61744545T>C	gnomAD
BRIP1	Q9BX63	p.Asn716Asp	rs1060501745	missense variant	-	NC_000017.11:g.61744543T>C	TOPMed
BRIP1	Q9BX63	p.Asn716Asp	RCV000563216	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744543T>C	ClinVar
BRIP1	Q9BX63	p.Asn716Asp	RCV000465706	missense variant	Familial cancer of breast	NC_000017.11:g.61744543T>C	ClinVar
BRIP1	Q9BX63	p.Asn716His	rs1060501745	missense variant	-	NC_000017.11:g.61744543T>G	TOPMed
BRIP1	Q9BX63	p.Leu717Val	COSM1479823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61744540G>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Glu718Gln	rs774478325	missense variant	-	NC_000017.11:g.61744537C>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Val720Met	RCV000581314	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744531C>T	ClinVar
BRIP1	Q9BX63	p.Val720Met	RCV000800859	missense variant	Familial cancer of breast	NC_000017.11:g.61744531C>T	ClinVar
BRIP1	Q9BX63	p.Val720Met	rs1555591459	missense variant	-	NC_000017.11:g.61744531C>T	-
BRIP1	Q9BX63	p.Thr722Ser	rs1555591453	missense variant	-	NC_000017.11:g.61744525T>A	-
BRIP1	Q9BX63	p.Thr722Ser	RCV000579729	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744525T>A	ClinVar
BRIP1	Q9BX63	p.Thr722Ala	COSM1147835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61744525T>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Val723Ile	rs145616741	missense variant	-	NC_000017.11:g.61744522C>T	ESP
BRIP1	Q9BX63	p.Val723Ile	RCV000222035	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744522C>T	ClinVar
BRIP1	Q9BX63	p.Val723Ile	RCV000222292	missense variant	-	NC_000017.11:g.61744522C>T	ClinVar
BRIP1	Q9BX63	p.Val723Ile	RCV000636157	missense variant	Familial cancer of breast	NC_000017.11:g.61744522C>T	ClinVar
BRIP1	Q9BX63	p.Ile724Thr	rs1312043643	missense variant	-	NC_000017.11:g.61744518A>G	gnomAD
BRIP1	Q9BX63	p.Val725Ile	rs1236873736	missense variant	-	NC_000017.11:g.61744516C>T	gnomAD
BRIP1	Q9BX63	p.Val725Ile	RCV000694607	missense variant	Familial cancer of breast	NC_000017.11:g.61744516C>T	ClinVar
BRIP1	Q9BX63	p.Val725Ile	rs1236873736	missense variant	-	NC_000017.11:g.61744516C>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Glu726Asp	RCV000539238	missense variant	Familial cancer of breast	NC_000017.11:g.61744511T>G	ClinVar
BRIP1	Q9BX63	p.Glu726Lys	RCV000214009	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744513C>T	ClinVar
BRIP1	Q9BX63	p.Glu726Asp	rs1555591425	missense variant	-	NC_000017.11:g.61744511T>G	-
BRIP1	Q9BX63	p.Glu726Lys	rs876659826	missense variant	-	NC_000017.11:g.61744513C>T	-
BRIP1	Q9BX63	p.Pro727Ala	rs769797684	missense variant	-	NC_000017.11:g.61744510G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro727Leu	rs876659309	missense variant	-	NC_000017.11:g.61744509G>A	TOPMed
BRIP1	Q9BX63	p.Pro727Thr	RCV000484955	missense variant	-	NC_000017.11:g.61744510G>T	ClinVar
BRIP1	Q9BX63	p.Pro727Leu	RCV000481353	missense variant	-	NC_000017.11:g.61744509G>A	ClinVar
BRIP1	Q9BX63	p.Pro727Leu	RCV000219308	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744509G>A	ClinVar
BRIP1	Q9BX63	p.Pro727Leu	RCV000469514	missense variant	Familial cancer of breast	NC_000017.11:g.61744509G>A	ClinVar
BRIP1	Q9BX63	p.Pro727Ser	rs769797684	missense variant	-	NC_000017.11:g.61744510G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro727Thr	rs769797684	missense variant	-	NC_000017.11:g.61744510G>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln728Glu	rs1296238058	missense variant	-	NC_000017.11:g.61744507G>C	TOPMed
BRIP1	Q9BX63	p.Gly729Arg	RCV000566354	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744504C>T	ClinVar
BRIP1	Q9BX63	p.Gly729Arg	RCV000556236	missense variant	Familial cancer of breast	NC_000017.11:g.61744504C>T	ClinVar
BRIP1	Q9BX63	p.Gly729Arg	rs1555591407	missense variant	-	NC_000017.11:g.61744504C>T	-
BRIP1	Q9BX63	p.Gly729Glu	rs1404094308	missense variant	-	NC_000017.11:g.61744503C>T	TOPMed
BRIP1	Q9BX63	p.Gly730Glu	RCV000573512	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744500C>T	ClinVar
BRIP1	Q9BX63	p.Gly730Glu	RCV000636134	missense variant	Familial cancer of breast	NC_000017.11:g.61744500C>T	ClinVar
BRIP1	Q9BX63	p.Gly730Glu	rs748616469	missense variant	-	NC_000017.11:g.61744500C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu731Gln	COSM4835456	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61744498C>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asn734His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61744489T>G	NCI-TCGA
BRIP1	Q9BX63	p.Phe735Leu	rs1353526212	missense variant	-	NC_000017.11:g.61744486A>G	TOPMed
BRIP1	Q9BX63	p.Asp736Ter	RCV000657812	nonsense	-	NC_000017.11:g.61744487dup	ClinVar
BRIP1	Q9BX63	p.Asp736Ter	RCV000703182	nonsense	Familial cancer of breast	NC_000017.11:g.61744487dup	ClinVar
BRIP1	Q9BX63	p.Glu737Gly	rs755361298	missense variant	-	NC_000017.11:g.61744479T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu738Val	RCV000772594	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744477A>C	ClinVar
BRIP1	Q9BX63	p.Leu738Ile	RCV000777105	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744477A>T	ClinVar
BRIP1	Q9BX63	p.Leu739Pro	rs587780234	missense variant	-	NC_000017.11:g.61744473A>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu739Pro	RCV000116136	missense variant	-	NC_000017.11:g.61744473A>G	ClinVar
BRIP1	Q9BX63	p.Leu739Pro	RCV000526865	missense variant	Familial cancer of breast	NC_000017.11:g.61744473A>G	ClinVar
BRIP1	Q9BX63	p.Gln740Ter	rs1555591361	stop gained	-	NC_000017.11:g.61744471G>A	-
BRIP1	Q9BX63	p.Gln740His	rs45589637	missense variant	-	NC_000017.11:g.61744469C>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln740Ter	RCV000581423	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744471G>A	ClinVar
BRIP1	Q9BX63	p.Gln740His	RCV000131414	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744469C>A	ClinVar
BRIP1	Q9BX63	p.Gln740His	RCV000120396	missense variant	-	NC_000017.11:g.61744469C>A	ClinVar
BRIP1	Q9BX63	p.Gln740His	rs45589637	missense variant	-	NC_000017.11:g.61744469C>G	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln740His	RCV000488342	missense variant	-	NC_000017.11:g.61744469C>A	ClinVar
BRIP1	Q9BX63	p.Gln740Ter	RCV000534157	frameshift	Familial cancer of breast	NC_000017.11:g.61744471del	ClinVar
BRIP1	Q9BX63	p.Val741Ter	RCV000700250	frameshift	Familial cancer of breast	NC_000017.11:g.61744469dup	ClinVar
BRIP1	Q9BX63	p.ValTyr741ValTerTyr	rs1310861578	stop gained	-	NC_000017.11:g.61744464_61744466dup	gnomAD
BRIP1	Q9BX63	p.Val741Leu	rs1308293137	missense variant	-	NC_000017.11:g.61744468C>G	TOPMed
BRIP1	Q9BX63	p.Val741Ala	rs1555591357	missense variant	-	NC_000017.11:g.61744467A>G	-
BRIP1	Q9BX63	p.Val741Ala	RCV000564166	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744467A>G	ClinVar
BRIP1	Q9BX63	p.Tyr742Ser	rs1555591351	missense variant	-	NC_000017.11:g.61744464T>G	-
BRIP1	Q9BX63	p.Tyr742Phe	rs1555591351	missense variant	-	NC_000017.11:g.61744464T>A	-
BRIP1	Q9BX63	p.Tyr742Ser	RCV000759707	missense variant	-	NC_000017.11:g.61744464T>G	ClinVar
BRIP1	Q9BX63	p.Tyr742Ser	RCV000801819	missense variant	Familial cancer of breast	NC_000017.11:g.61744464T>G	ClinVar
BRIP1	Q9BX63	p.Tyr742Ter	RCV000636124	nonsense	Familial cancer of breast	NC_000017.11:g.61744464_61744466dup	ClinVar
BRIP1	Q9BX63	p.Tyr742Phe	RCV000561359	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744464T>A	ClinVar
BRIP1	Q9BX63	p.Tyr742Ser	RCV000573545	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744464T>G	ClinVar
BRIP1	Q9BX63	p.Tyr743Ser	RCV000636127	missense variant	Familial cancer of breast	NC_000017.11:g.61744461T>G	ClinVar
BRIP1	Q9BX63	p.Tyr743Ser	RCV000166681	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744461T>G	ClinVar
BRIP1	Q9BX63	p.Tyr743Ser	rs750033391	missense variant	-	NC_000017.11:g.61744461T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Tyr743Cys	rs750033391	missense variant	-	NC_000017.11:g.61744461T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp744Glu	rs374362388	missense variant	-	NC_000017.11:g.61744457G>C	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp744Val	rs1555591345	missense variant	-	NC_000017.11:g.61744458T>A	-
BRIP1	Q9BX63	p.Asp744Val	RCV000582694	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744458T>A	ClinVar
BRIP1	Q9BX63	p.Asp744Glu	RCV000502318	missense variant	-	NC_000017.11:g.61744457G>C	ClinVar
BRIP1	Q9BX63	p.Asp744Glu	RCV000583929	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744457G>C	ClinVar
BRIP1	Q9BX63	p.Ala745Thr	rs587780235	missense variant	-	NC_000017.11:g.61744456C>T	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ala745Thr	RCV000477497	missense variant	Familial cancer of breast	NC_000017.11:g.61744456C>T	ClinVar
BRIP1	Q9BX63	p.Ala745Thr	RCV000116137	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744456C>T	ClinVar
BRIP1	Q9BX63	p.Ala745Thr	rs587780235	missense variant	-	NC_000017.11:g.61744456C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala745Thr	RCV000586157	missense variant	-	NC_000017.11:g.61744456C>T	ClinVar
BRIP1	Q9BX63	p.Ala745Thr	RCV000662754	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61744456C>T	ClinVar
BRIP1	Q9BX63	p.Ala745Val	COSM1153121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61744455G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ala745Thr	RCV000194594	missense variant	-	NC_000017.11:g.61744456C>T	ClinVar
BRIP1	Q9BX63	p.Ile746Val	rs111536363	missense variant	-	NC_000017.11:g.61744453T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile746Ter	RCV000551045	frameshift	Familial cancer of breast	NC_000017.11:g.61744452_61744455del	ClinVar
BRIP1	Q9BX63	p.Ile746Ter	RCV000132220	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744452_61744455del	ClinVar
BRIP1	Q9BX63	p.Ile746Val	RCV000354192	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61744453T>C	ClinVar
BRIP1	Q9BX63	p.Ile746Val	RCV000296906	missense variant	Neoplasm of the breast	NC_000017.11:g.61744453T>C	ClinVar
BRIP1	Q9BX63	p.Tyr748Ter	rs1257401983	stop gained	-	NC_000017.11:g.61744445G>C	TOPMed
BRIP1	Q9BX63	p.Tyr748Ter	RCV000504601	nonsense	Neoplasm of the breast	NC_000017.11:g.61744445G>C	ClinVar
BRIP1	Q9BX63	p.Tyr748Ter	RCV000694900	nonsense	Familial cancer of breast	NC_000017.11:g.61744445G>C	ClinVar
BRIP1	Q9BX63	p.Tyr748Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61744446T>C	NCI-TCGA
BRIP1	Q9BX63	p.Tyr748Ter	RCV000576013	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744445G>C	ClinVar
BRIP1	Q9BX63	p.Lys749Asn	RCV000484256	missense variant	-	NC_000017.11:g.61744442T>A	ClinVar
BRIP1	Q9BX63	p.Lys749Asn	RCV000131774	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744442T>A	ClinVar
BRIP1	Q9BX63	p.Lys749Asn	RCV000467599	missense variant	Familial cancer of breast	NC_000017.11:g.61744442T>A	ClinVar
BRIP1	Q9BX63	p.Lys749Asn	rs587782556	missense variant	-	NC_000017.11:g.61744442T>A	TOPMed
BRIP1	Q9BX63	p.Gly750Val	RCV000775417	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744440C>A	ClinVar
BRIP1	Q9BX63	p.Gly750Val	rs764061653	missense variant	-	NC_000017.11:g.61744440C>A	NCI-TCGA
BRIP1	Q9BX63	p.Gly750Val	rs764061653	missense variant	-	NC_000017.11:g.61744440C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu751Gln	RCV000562106	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744438C>G	ClinVar
BRIP1	Q9BX63	p.Glu751Gln	rs760438320	missense variant	-	NC_000017.11:g.61744438C>G	ExAC
BRIP1	Q9BX63	p.Lys752Ter	RCV000587824	frameshift	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61744434_61744435del	ClinVar
BRIP1	Q9BX63	p.Lys752Ter	RCV000662905	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61744434_61744435del	ClinVar
BRIP1	Q9BX63	p.Lys752Ter	RCV000212320	frameshift	-	NC_000017.11:g.61744434_61744435del	ClinVar
BRIP1	Q9BX63	p.Lys752Ter	RCV000160364	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744434_61744435del	ClinVar
BRIP1	Q9BX63	p.Lys752Gln	rs876659651	missense variant	-	NC_000017.11:g.61744435T>G	-
BRIP1	Q9BX63	p.Lys752Ter	RCV000167986	frameshift	Familial cancer of breast	NC_000017.11:g.61744434_61744435del	ClinVar
BRIP1	Q9BX63	p.Lys752Arg	RCV000217131	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744434T>C	ClinVar
BRIP1	Q9BX63	p.Lys752Gln	RCV000215789	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61744435T>G	ClinVar
BRIP1	Q9BX63	p.Lys752Arg	rs876660016	missense variant	-	NC_000017.11:g.61744434T>C	-
BRIP1	Q9BX63	p.Asp753Gly	RCV000234088	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743134T>C	ClinVar
BRIP1	Q9BX63	p.Asp753Gly	RCV000662914	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743134T>C	ClinVar
BRIP1	Q9BX63	p.Asp753Gly	rs745578572	missense variant	-	NC_000017.11:g.61743134T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp753Gly	RCV000164317	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743134T>C	ClinVar
BRIP1	Q9BX63	p.Gly754Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61743131C>A	NCI-TCGA
BRIP1	Q9BX63	p.Ala755Gly	RCV000812413	missense variant	Familial cancer of breast	NC_000017.11:g.61743128G>C	ClinVar
BRIP1	Q9BX63	p.Ala755Gly	RCV000777059	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743128G>C	ClinVar
BRIP1	Q9BX63	p.Ala755Val	rs1555590565	missense variant	-	NC_000017.11:g.61743128G>A	-
BRIP1	Q9BX63	p.Ala755Val	RCV000636159	missense variant	Familial cancer of breast	NC_000017.11:g.61743128G>A	ClinVar
BRIP1	Q9BX63	p.Ala755Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61743128G>T	NCI-TCGA
BRIP1	Q9BX63	p.Leu757Pro	rs1213182039	missense variant	-	NC_000017.11:g.61743122A>G	gnomAD
BRIP1	Q9BX63	p.Val758Ile	rs1192826909	missense variant	-	NC_000017.11:g.61743120C>T	TOPMed
BRIP1	Q9BX63	p.Ala759Ter	RCV000116138	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743119dup	ClinVar
BRIP1	Q9BX63	p.Ala759Ter	RCV000576781	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743119dup	ClinVar
BRIP1	Q9BX63	p.Ala759Ter	RCV000258967	frameshift	-	NC_000017.11:g.61743119dup	ClinVar
BRIP1	Q9BX63	p.Ala759Ter	RCV000636094	frameshift	Familial cancer of breast	NC_000017.11:g.61743119dup	ClinVar
BRIP1	Q9BX63	p.Cys761Ser	RCV000777049	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743110C>G	ClinVar
BRIP1	Q9BX63	p.Cys761Gly	RCV000572550	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743111A>C	ClinVar
BRIP1	Q9BX63	p.Cys761Ser	RCV000792444	missense variant	Familial cancer of breast	NC_000017.11:g.61743110C>G	ClinVar
BRIP1	Q9BX63	p.Cys761Ter	RCV000564352	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743113del	ClinVar
BRIP1	Q9BX63	p.Cys761Gly	rs1422958547	missense variant	-	NC_000017.11:g.61743111A>C	TOPMed
BRIP1	Q9BX63	p.Cys761Gly	RCV000545443	missense variant	Familial cancer of breast	NC_000017.11:g.61743111A>C	ClinVar
BRIP1	Q9BX63	p.Arg762Leu	RCV000806586	missense variant	Familial cancer of breast	NC_000017.11:g.61743107C>A	ClinVar
BRIP1	Q9BX63	p.Arg762Leu	RCV000573939	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743107C>A	ClinVar
BRIP1	Q9BX63	p.Arg762His	RCV000227922	missense variant	Familial cancer of breast	NC_000017.11:g.61743107C>T	ClinVar
BRIP1	Q9BX63	p.Arg762His	rs200960251	missense variant	-	NC_000017.11:g.61743107C>T	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Arg762His	RCV000164605	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743107C>T	ClinVar
BRIP1	Q9BX63	p.Arg762Pro	RCV000561123	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743107C>G	ClinVar
BRIP1	Q9BX63	p.Arg762Cys	RCV000120398	missense variant	-	NC_000017.11:g.61743108G>A	ClinVar
BRIP1	Q9BX63	p.Arg762His	rs200960251	missense variant	-	NC_000017.11:g.61743107C>T	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg762Leu	rs200960251	missense variant	-	NC_000017.11:g.61743107C>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg762Cys	rs587778136	missense variant	-	NC_000017.11:g.61743108G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg762Pro	rs200960251	missense variant	-	NC_000017.11:g.61743107C>G	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg762His	RCV000663145	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743107C>T	ClinVar
BRIP1	Q9BX63	p.Arg762His	RCV000590146	missense variant	-	NC_000017.11:g.61743107C>T	ClinVar
BRIP1	Q9BX63	p.Arg762Tyr	RCV000553339	missense variant	Familial cancer of breast	NC_000017.11:g.61743107_61743108delinsTA	ClinVar
BRIP1	Q9BX63	p.Arg762Tyr	rs1555590511	missense variant	-	NC_000017.11:g.61743107_61743108delinsTA	-
BRIP1	Q9BX63	p.Gly763Arg	rs876660890	missense variant	-	NC_000017.11:g.61743105C>G	-
BRIP1	Q9BX63	p.Gly763Arg	RCV000217157	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743105C>G	ClinVar
BRIP1	Q9BX63	p.Gly763Asp	rs371484780	missense variant	-	NC_000017.11:g.61743104C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Val765Met	rs1555590489	missense variant	-	NC_000017.11:g.61743099C>T	-
BRIP1	Q9BX63	p.Val765Met	RCV000575297	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743099C>T	ClinVar
BRIP1	Q9BX63	p.Glu767Asp	RCV000580498	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743091C>G	ClinVar
BRIP1	Q9BX63	p.Glu767Asp	rs369434185	missense variant	-	NC_000017.11:g.61743091C>G	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp770Gly	rs1555590457	missense variant	-	NC_000017.11:g.61743083T>C	-
BRIP1	Q9BX63	p.Asp770Gly	RCV000636107	missense variant	Familial cancer of breast	NC_000017.11:g.61743083T>C	ClinVar
BRIP1	Q9BX63	p.Phe771Leu	rs1298345650	missense variant	-	NC_000017.11:g.61743079G>C	gnomAD
BRIP1	Q9BX63	p.Asp773Asn	rs146091205	missense variant	-	NC_000017.11:g.61743075C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp774Gly	rs992780498	missense variant	-	NC_000017.11:g.61743071T>C	gnomAD
BRIP1	Q9BX63	p.Asp774Gly	RCV000580132	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743071T>C	ClinVar
BRIP1	Q9BX63	p.Asn775Lys	rs375146450	missense variant	-	NC_000017.11:g.61743067A>C	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn775Ser	RCV000120397	missense variant	-	NC_000017.11:g.61743068T>C	ClinVar
BRIP1	Q9BX63	p.Asn775Lys	RCV000571248	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743067A>C	ClinVar
BRIP1	Q9BX63	p.Asn775Asp	rs1462414397	missense variant	-	NC_000017.11:g.61743069T>C	gnomAD
BRIP1	Q9BX63	p.Asn775Ser	rs571108955	missense variant	-	NC_000017.11:g.61743068T>C	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn775Lys	RCV000520323	missense variant	-	NC_000017.11:g.61743067A>C	ClinVar
BRIP1	Q9BX63	p.Asn775Lys	RCV000206272	missense variant	Familial cancer of breast	NC_000017.11:g.61743067A>C	ClinVar
BRIP1	Q9BX63	p.Ala776Asp	rs1555590421	missense variant	-	NC_000017.11:g.61743065G>T	-
BRIP1	Q9BX63	p.Ala776Asp	RCV000636070	missense variant	Familial cancer of breast	NC_000017.11:g.61743065G>T	ClinVar
BRIP1	Q9BX63	p.Arg777Pro	RCV000772410	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743062C>G	ClinVar
BRIP1	Q9BX63	p.Arg777Cys	RCV000529694	missense variant	Familial cancer of breast	NC_000017.11:g.61743063G>A	ClinVar
BRIP1	Q9BX63	p.Arg777Cys	rs768555161	missense variant	-	NC_000017.11:g.61743063G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg777His	RCV000636177	missense variant	Familial cancer of breast	NC_000017.11:g.61743062C>T	ClinVar
BRIP1	Q9BX63	p.Arg777Cys	RCV000164534	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743063G>A	ClinVar
BRIP1	Q9BX63	p.Arg777His	RCV000215983	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743062C>T	ClinVar
BRIP1	Q9BX63	p.Arg777His	rs747568830	missense variant	-	NC_000017.11:g.61743062C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg777Gly	rs768555161	missense variant	-	NC_000017.11:g.61743063G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg777Ter	RCV000477985	frameshift	-	NC_000017.11:g.61743062del	ClinVar
BRIP1	Q9BX63	p.Val779Asp	RCV000687045	missense variant	Familial cancer of breast	NC_000017.11:g.61743056A>T	ClinVar
BRIP1	Q9BX63	p.Val779Ile	COSM1153120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61743057C>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ile780Lys	rs1467232177	missense variant	-	NC_000017.11:g.61743053A>T	gnomAD
BRIP1	Q9BX63	p.Ile780Arg	RCV000575012	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743053A>C	ClinVar
BRIP1	Q9BX63	p.Ile780Leu	rs776131401	missense variant	-	NC_000017.11:g.61743054T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile780Arg	rs1467232177	missense variant	-	NC_000017.11:g.61743053A>C	gnomAD
BRIP1	Q9BX63	p.Ile780Arg	RCV000797013	missense variant	Familial cancer of breast	NC_000017.11:g.61743053A>C	ClinVar
BRIP1	Q9BX63	p.Thr781Ile	rs1555590382	missense variant	-	NC_000017.11:g.61743050G>A	-
BRIP1	Q9BX63	p.Thr781Ter	RCV000662926	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743052dup	ClinVar
BRIP1	Q9BX63	p.Thr781Ile	RCV000565998	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743050G>A	ClinVar
BRIP1	Q9BX63	p.Ile782Thr	RCV000583295	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743047A>G	ClinVar
BRIP1	Q9BX63	p.Ile782Val	RCV000483323	missense variant	-	NC_000017.11:g.61743048T>C	ClinVar
BRIP1	Q9BX63	p.Ile782Thr	RCV000816110	missense variant	Familial cancer of breast	NC_000017.11:g.61743047A>G	ClinVar
BRIP1	Q9BX63	p.Ile782Thr	rs778758437	missense variant	-	NC_000017.11:g.61743047A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile782Val	rs142806416	missense variant	-	NC_000017.11:g.61743048T>C	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Ile782Val	RCV000131421	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743048T>C	ClinVar
BRIP1	Q9BX63	p.Ile782Val	RCV000759709	missense variant	-	NC_000017.11:g.61743048T>C	ClinVar
BRIP1	Q9BX63	p.Ile782Val	RCV000409672	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743048T>C	ClinVar
BRIP1	Q9BX63	p.Ile782Val	RCV000234751	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743048T>C	ClinVar
BRIP1	Q9BX63	p.Ile782Val	RCV000410875	missense variant	Neoplasm of ovary	NC_000017.11:g.61743048T>C	ClinVar
BRIP1	Q9BX63	p.Pro787Arg	rs1555590356	missense variant	-	NC_000017.11:g.61743032G>C	-
BRIP1	Q9BX63	p.Pro787Arg	RCV000563101	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743032G>C	ClinVar
BRIP1	Q9BX63	p.Asn788Lys	rs587783045	missense variant	-	NC_000017.11:g.61743028A>T	-
BRIP1	Q9BX63	p.Asn788Lys	RCV000144587	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743028A>T	ClinVar
BRIP1	Q9BX63	p.Val789Ala	rs1060501728	missense variant	-	NC_000017.11:g.61743026A>G	-
BRIP1	Q9BX63	p.Val789Leu	RCV000689257	missense variant	Familial cancer of breast	NC_000017.11:g.61743027C>A	ClinVar
BRIP1	Q9BX63	p.Val789Leu	RCV000222877	missense variant	-	NC_000017.11:g.61743027C>A	ClinVar
BRIP1	Q9BX63	p.Val789Leu	rs876661097	missense variant	-	NC_000017.11:g.61743027C>A	-
BRIP1	Q9BX63	p.Val789Ala	RCV000456256	missense variant	Familial cancer of breast	NC_000017.11:g.61743026A>G	ClinVar
BRIP1	Q9BX63	p.Asp791Tyr	rs1289778155	missense variant	-	NC_000017.11:g.61743021C>A	gnomAD
BRIP1	Q9BX63	p.Asp791Glu	rs876659615	missense variant	-	NC_000017.11:g.61743019A>C	gnomAD
BRIP1	Q9BX63	p.Asp791Val	RCV000478836	missense variant	-	NC_000017.11:g.61743020T>A	ClinVar
BRIP1	Q9BX63	p.Asp791Gly	RCV000547000	missense variant	Familial cancer of breast	NC_000017.11:g.61743020T>C	ClinVar
BRIP1	Q9BX63	p.Asp791Glu	RCV000705289	missense variant	Familial cancer of breast	NC_000017.11:g.61743019A>T	ClinVar
BRIP1	Q9BX63	p.Asp791Val	RCV000216036	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743020T>A	ClinVar
BRIP1	Q9BX63	p.Asp791Glu	RCV000222611	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61743019A>T	ClinVar
BRIP1	Q9BX63	p.Asp791Val	RCV000461754	missense variant	Familial cancer of breast	NC_000017.11:g.61743020T>A	ClinVar
BRIP1	Q9BX63	p.Asp791Glu	rs876659615	missense variant	-	NC_000017.11:g.61743019A>T	gnomAD
BRIP1	Q9BX63	p.Asp791Gly	rs876658934	missense variant	-	NC_000017.11:g.61743020T>C	TOPMed
BRIP1	Q9BX63	p.Asp791Val	rs876658934	missense variant	-	NC_000017.11:g.61743020T>A	TOPMed
BRIP1	Q9BX63	p.Gln793His	RCV000785562	missense variant	Ovarian Neoplasms	NC_000017.11:g.61743013C>A	ClinVar
BRIP1	Q9BX63	p.Gln793Ter	rs587782574	stop gained	-	NC_000017.11:g.61743015G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln793Ter	RCV000663018	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61743015G>A	ClinVar
BRIP1	Q9BX63	p.Val794Phe	rs1261005517	missense variant	-	NC_000017.11:g.61716063C>A	gnomAD
BRIP1	Q9BX63	p.Val794Phe	RCV000636113	missense variant	Familial cancer of breast	NC_000017.11:g.61716063C>A	ClinVar
BRIP1	Q9BX63	p.Val794Phe	RCV000562557	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716063C>A	ClinVar
BRIP1	Q9BX63	p.Glu795Asp	rs1486758464	missense variant	-	NC_000017.11:g.61716058T>G	gnomAD
BRIP1	Q9BX63	p.Glu795Ter	COSM6147715	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61716060C>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Lys797Arg	RCV000477092	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716053T>C	ClinVar
BRIP1	Q9BX63	p.Lys797Arg	rs730881622	missense variant	-	NC_000017.11:g.61716053T>C	TOPMed
BRIP1	Q9BX63	p.Lys797Arg	RCV000663309	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716053T>C	ClinVar
BRIP1	Q9BX63	p.Lys797Arg	RCV000212323	missense variant	-	NC_000017.11:g.61716053T>C	ClinVar
BRIP1	Q9BX63	p.Lys797Arg	RCV000781178	missense variant	-	NC_000017.11:g.61716053T>C	ClinVar
BRIP1	Q9BX63	p.Lys797Arg	RCV000160319	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716053T>C	ClinVar
BRIP1	Q9BX63	p.Arg798Ter	rs137852986	stop gained	Fanconi anemia, complementation group j (fancj)	NC_000017.11:g.61716051G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg798Gln	RCV000220012	missense variant	-	NC_000017.11:g.61716050C>T	ClinVar
BRIP1	Q9BX63	p.Arg798Ter	rs137852986	stop gained	-	NC_000017.11:g.61716051G>A	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Arg798Gln	rs375082407	missense variant	-	NC_000017.11:g.61716050C>T	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Arg798Gln	RCV000662702	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716050C>T	ClinVar
BRIP1	Q9BX63	p.Arg798Gln	RCV000132435	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716050C>T	ClinVar
BRIP1	Q9BX63	p.Arg798Gln	RCV000475477	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716050C>T	ClinVar
BRIP1	Q9BX63	p.Arg798Gln	rs375082407	missense variant	-	NC_000017.11:g.61716050C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg798Ter	rs137852986	stop gained	Fanconi anemia, complementation group j (fancj)	NC_000017.11:g.61716051G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg798Ter	RCV000409918	nonsense	Neoplasm of ovary	NC_000017.11:g.61716051G>A	ClinVar
BRIP1	Q9BX63	p.Tyr800His	RCV000695935	missense variant	Familial cancer of breast	NC_000017.11:g.61716045A>G	ClinVar
BRIP1	Q9BX63	p.Tyr800Ter	RCV000131417	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716043G>C	ClinVar
BRIP1	Q9BX63	p.Tyr800Ter	rs574552037	stop gained	-	NC_000017.11:g.61716043G>C	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Tyr800His	rs1305107535	missense variant	-	NC_000017.11:g.61716045A>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Tyr800Ter	RCV000254652	nonsense	-	NC_000017.11:g.61716043G>C	ClinVar
BRIP1	Q9BX63	p.Tyr800Ter	RCV000588697	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716043G>C	ClinVar
BRIP1	Q9BX63	p.Tyr800LysTerValSerPheAspIleTyrSer	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61716040_61716041insTTACTATATATGTCAAAACTCACCTAC	NCI-TCGA
BRIP1	Q9BX63	p.Tyr800His	RCV000565658	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716045A>G	ClinVar
BRIP1	Q9BX63	p.Tyr800Ter	RCV000205848	nonsense	Familial cancer of breast	NC_000017.11:g.61716043G>C	ClinVar
BRIP1	Q9BX63	p.Asn801Ser	rs1325317591	missense variant	-	NC_000017.11:g.61716041T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn801Lys	RCV000565853	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716040A>C	ClinVar
BRIP1	Q9BX63	p.Asn801Lys	rs1555580947	missense variant	-	NC_000017.11:g.61716040A>C	-
BRIP1	Q9BX63	p.Asn801His	rs1408016407	missense variant	-	NC_000017.11:g.61716042T>G	TOPMed
BRIP1	Q9BX63	p.Asn801Ser	RCV000691047	missense variant	Familial cancer of breast	NC_000017.11:g.61716041T>C	ClinVar
BRIP1	Q9BX63	p.Asp802His	rs1555580944	missense variant	-	NC_000017.11:g.61716039C>G	-
BRIP1	Q9BX63	p.Asp802Gly	RCV000548413	missense variant	Familial cancer of breast	NC_000017.11:g.61716038T>C	ClinVar
BRIP1	Q9BX63	p.Asp802Gly	RCV000781184	missense variant	-	NC_000017.11:g.61716038T>C	ClinVar
BRIP1	Q9BX63	p.Asp802Gly	RCV000222483	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716038T>C	ClinVar
BRIP1	Q9BX63	p.Asp802His	RCV000567782	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716039C>G	ClinVar
BRIP1	Q9BX63	p.Asp802Gly	rs876660273	missense variant	-	NC_000017.11:g.61716038T>C	gnomAD
BRIP1	Q9BX63	p.Asp802Glu	rs748981650	missense variant	-	NC_000017.11:g.61716037G>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp802ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61716038_61716039insTA	NCI-TCGA
BRIP1	Q9BX63	p.His803Leu	rs1386234504	missense variant	-	NC_000017.11:g.61716035T>A	gnomAD
BRIP1	Q9BX63	p.His803Pro	rs1386234504	missense variant	-	NC_000017.11:g.61716035T>G	gnomAD
BRIP1	Q9BX63	p.His804Arg	rs777277034	missense variant	-	NC_000017.11:g.61716032T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Lys806Glu	rs747622456	missense variant	-	NC_000017.11:g.61716027T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg808Ile	rs781153382	missense variant	-	NC_000017.11:g.61716020C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg808Gly	rs587780237	missense variant	-	NC_000017.11:g.61716021T>C	-
BRIP1	Q9BX63	p.Arg808Gly	RCV000571281	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716021T>C	ClinVar
BRIP1	Q9BX63	p.Arg808Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61716020C>T	NCI-TCGA
BRIP1	Q9BX63	p.Arg808Gly	RCV000116140	missense variant	-	NC_000017.11:g.61716021T>C	ClinVar
BRIP1	Q9BX63	p.Gly809Val	rs1555580886	missense variant	-	NC_000017.11:g.61716017C>A	-
BRIP1	Q9BX63	p.Gly809Ser	RCV000568103	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716018C>T	ClinVar
BRIP1	Q9BX63	p.Gly809Ser	rs1555580892	missense variant	-	NC_000017.11:g.61716018C>T	-
BRIP1	Q9BX63	p.Gly809Val	RCV000560808	missense variant	Familial cancer of breast	NC_000017.11:g.61716017C>A	ClinVar
BRIP1	Q9BX63	p.Leu810Val	RCV000116141	missense variant	-	NC_000017.11:g.61716015G>C	ClinVar
BRIP1	Q9BX63	p.Leu810Val	RCV000570772	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716015G>C	ClinVar
BRIP1	Q9BX63	p.Leu810Val	RCV000231144	missense variant	Familial cancer of breast	NC_000017.11:g.61716015G>C	ClinVar
BRIP1	Q9BX63	p.Leu810Val	rs587780238	missense variant	-	NC_000017.11:g.61716015G>C	TOPMed
BRIP1	Q9BX63	p.Leu810Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61716015G>T	NCI-TCGA
BRIP1	Q9BX63	p.Leu811Pro	rs1205831534	missense variant	-	NC_000017.11:g.61716011A>G	TOPMed
BRIP1	Q9BX63	p.Pro812Leu	RCV000535997	missense variant	Familial cancer of breast	NC_000017.11:g.61716008G>A	ClinVar
BRIP1	Q9BX63	p.Pro812Leu	RCV000587115	missense variant	-	NC_000017.11:g.61716008G>A	ClinVar
BRIP1	Q9BX63	p.Pro812Arg	RCV000219849	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716008G>C	ClinVar
BRIP1	Q9BX63	p.Pro812Leu	RCV000579710	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716008G>A	ClinVar
BRIP1	Q9BX63	p.Pro812Leu	rs876659410	missense variant	-	NC_000017.11:g.61716008G>A	gnomAD
BRIP1	Q9BX63	p.Pro812Ser	rs779915262	missense variant	-	NC_000017.11:g.61716009G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Pro812Arg	rs876659410	missense variant	-	NC_000017.11:g.61716008G>C	gnomAD
BRIP1	Q9BX63	p.Arg814Cys	rs201869624	missense variant	-	NC_000017.11:g.61716003G>A	NCI-TCGA
BRIP1	Q9BX63	p.Arg814Gly	RCV000483176	missense variant	-	NC_000017.11:g.61716003G>C	ClinVar
BRIP1	Q9BX63	p.Arg814Gly	RCV000567310	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716003G>C	ClinVar
BRIP1	Q9BX63	p.Arg814Cys	RCV000588835	missense variant	-	NC_000017.11:g.61716003G>A	ClinVar
BRIP1	Q9BX63	p.Arg814Gly	RCV000801683	missense variant	Familial cancer of breast	NC_000017.11:g.61716003G>C	ClinVar
BRIP1	Q9BX63	p.Arg814His	RCV000234009	missense variant	Familial cancer of breast	NC_000017.11:g.61716002C>T	ClinVar
BRIP1	Q9BX63	p.Arg814His	RCV000411419	missense variant	Neoplasm of ovary	NC_000017.11:g.61716002C>T	ClinVar
BRIP1	Q9BX63	p.Arg814His	RCV000130375	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61716002C>T	ClinVar
BRIP1	Q9BX63	p.Arg814His	rs45468199	missense variant	-	NC_000017.11:g.61716002C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg814Cys	rs201869624	missense variant	-	NC_000017.11:g.61716003G>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg814Gly	rs201869624	missense variant	-	NC_000017.11:g.61716003G>C	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg814His	RCV000410258	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61716002C>T	ClinVar
BRIP1	Q9BX63	p.Arg814His	RCV000218503	missense variant	-	NC_000017.11:g.61716002C>T	ClinVar
BRIP1	Q9BX63	p.Gln815Leu	rs1282067719	missense variant	-	NC_000017.11:g.61715999T>A	gnomAD
BRIP1	Q9BX63	p.Gln815Arg	rs1282067719	missense variant	-	NC_000017.11:g.61715999T>C	gnomAD
BRIP1	Q9BX63	p.Trp816Ter	rs786204250	stop gained	-	NC_000017.11:g.61715996C>T	-
BRIP1	Q9BX63	p.Trp816Ter	RCV000775951	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715995C>T	ClinVar
BRIP1	Q9BX63	p.Trp816Ter	RCV000168450	nonsense	Familial cancer of breast	NC_000017.11:g.61715996C>T	ClinVar
BRIP1	Q9BX63	p.Trp816Gly	rs1338241931	missense variant	-	NC_000017.11:g.61715997A>C	gnomAD
BRIP1	Q9BX63	p.Trp816Ter	rs1064795352	stop gained	-	NC_000017.11:g.61715995C>T	-
BRIP1	Q9BX63	p.Trp816Gly	RCV000560924	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715997A>C	ClinVar
BRIP1	Q9BX63	p.Trp816Ter	RCV000485368	nonsense	-	NC_000017.11:g.61715995C>T	ClinVar
BRIP1	Q9BX63	p.Tyr817Cys	RCV000662910	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61715993T>C	ClinVar
BRIP1	Q9BX63	p.Tyr817Cys	rs1555580828	missense variant	-	NC_000017.11:g.61715993T>C	-
BRIP1	Q9BX63	p.Glu818Lys	rs1555580819	missense variant	-	NC_000017.11:g.61715991C>T	-
BRIP1	Q9BX63	p.Glu818Lys	RCV000548486	missense variant	Familial cancer of breast	NC_000017.11:g.61715991C>T	ClinVar
BRIP1	Q9BX63	p.Glu818Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61715989T>G	NCI-TCGA
BRIP1	Q9BX63	p.Ala821Val	RCV000223309	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715981G>A	ClinVar
BRIP1	Q9BX63	p.Ala821Val	RCV000690651	missense variant	Familial cancer of breast	NC_000017.11:g.61715981G>A	ClinVar
BRIP1	Q9BX63	p.Ala821Val	rs876658697	missense variant	-	NC_000017.11:g.61715981G>A	-
BRIP1	Q9BX63	p.Tyr822His	RCV000196234	missense variant	Familial cancer of breast	NC_000017.11:g.61715979A>G	ClinVar
BRIP1	Q9BX63	p.Tyr822His	RCV000574768	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715979A>G	ClinVar
BRIP1	Q9BX63	p.Tyr822Cys	rs587781572	missense variant	-	NC_000017.11:g.61715978T>C	-
BRIP1	Q9BX63	p.Tyr822His	rs760887592	missense variant	-	NC_000017.11:g.61715979A>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Tyr822Ter	RCV000636138	frameshift	Familial cancer of breast	NC_000017.11:g.61715979dup	ClinVar
BRIP1	Q9BX63	p.Tyr822Cys	RCV000129606	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715978T>C	ClinVar
BRIP1	Q9BX63	p.Arg823Ser	rs587780239	missense variant	-	NC_000017.11:g.61715974C>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg823Gly	RCV000777286	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715976T>C	ClinVar
BRIP1	Q9BX63	p.Arg823Ser	RCV000662607	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61715974C>A	ClinVar
BRIP1	Q9BX63	p.Arg823Ser	RCV000123356	missense variant	Familial cancer of breast	NC_000017.11:g.61715974C>A	ClinVar
BRIP1	Q9BX63	p.Arg823Ser	RCV000590497	missense variant	-	NC_000017.11:g.61715974C>A	ClinVar
BRIP1	Q9BX63	p.Arg823Ser	RCV000116142	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715974C>A	ClinVar
BRIP1	Q9BX63	p.Asn826Ser	RCV000582319	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715966T>C	ClinVar
BRIP1	Q9BX63	p.Asn826Ser	rs760127237	missense variant	-	NC_000017.11:g.61715966T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn826Ser	RCV000541763	missense variant	Familial cancer of breast	NC_000017.11:g.61715966T>C	ClinVar
BRIP1	Q9BX63	p.Asn826Ser	RCV000587241	missense variant	-	NC_000017.11:g.61715966T>C	ClinVar
BRIP1	Q9BX63	p.Asn826Ser	rs760127237	missense variant	-	NC_000017.11:g.61715966T>C	NCI-TCGA
BRIP1	Q9BX63	p.Gln827Ter	RCV000580273	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715964G>A	ClinVar
BRIP1	Q9BX63	p.Gln827Lys	RCV000167402	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715964G>T	ClinVar
BRIP1	Q9BX63	p.Gln827Ter	RCV000229009	nonsense	Familial cancer of breast	NC_000017.11:g.61715964G>A	ClinVar
BRIP1	Q9BX63	p.Gln827Ter	rs786203898	stop gained	-	NC_000017.11:g.61715964G>A	-
BRIP1	Q9BX63	p.Gln827Lys	rs786203898	missense variant	-	NC_000017.11:g.61715964G>T	-
BRIP1	Q9BX63	p.Gly830Cys	RCV000572594	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715955C>A	ClinVar
BRIP1	Q9BX63	p.Gly830Arg	RCV000222074	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61715955C>G	ClinVar
BRIP1	Q9BX63	p.Gly830Cys	rs876659062	missense variant	-	NC_000017.11:g.61715955C>A	-
BRIP1	Q9BX63	p.Gly830Arg	rs876659062	missense variant	-	NC_000017.11:g.61715955C>G	-
BRIP1	Q9BX63	p.Arg831Lys	RCV000549959	missense variant	Familial cancer of breast	NC_000017.11:g.61715951C>T	ClinVar
BRIP1	Q9BX63	p.Arg831Lys	rs771382903	missense variant	-	NC_000017.11:g.61715951C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg831Ter	RCV000538973	frameshift	Familial cancer of breast	NC_000017.11:g.61715952del	ClinVar
BRIP1	Q9BX63	p.Cys832Gly	RCV000525948	missense variant	Familial cancer of breast	NC_000017.11:g.61693511A>C	ClinVar
BRIP1	Q9BX63	p.Cys832Arg	rs768222842	missense variant	-	NC_000017.11:g.61693511A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Cys832Gly	RCV000579758	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693511A>C	ClinVar
BRIP1	Q9BX63	p.Cys832Tyr	rs4988355	missense variant	-	NC_000017.11:g.61693510C>T	gnomAD
BRIP1	Q9BX63	p.Cys832Gly	rs768222842	missense variant	-	NC_000017.11:g.61693511A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile833Thr	RCV000216630	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693507A>G	ClinVar
BRIP1	Q9BX63	p.Ile833Thr	RCV000463029	missense variant	Familial cancer of breast	NC_000017.11:g.61693507A>G	ClinVar
BRIP1	Q9BX63	p.Ile833Val	RCV000709539	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693508T>C	ClinVar
BRIP1	Q9BX63	p.Ile833Val	rs199831248	missense variant	-	NC_000017.11:g.61693508T>C	-
BRIP1	Q9BX63	p.Ile833Thr	rs876660936	missense variant	-	NC_000017.11:g.61693507A>G	-
BRIP1	Q9BX63	p.Ile833Val	RCV000215748	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693508T>C	ClinVar
BRIP1	Q9BX63	p.His835Gln	RCV000538672	missense variant	Familial cancer of breast	NC_000017.11:g.61693500G>C	ClinVar
BRIP1	Q9BX63	p.His835Gln	rs775547651	missense variant	-	NC_000017.11:g.61693500G>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.His835Asp	rs746492294	missense variant	-	NC_000017.11:g.61693502G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg836Ile	rs1060501736	missense variant	-	NC_000017.11:g.61693498C>A	-
BRIP1	Q9BX63	p.Arg836Ile	RCV000463753	missense variant	Familial cancer of breast	NC_000017.11:g.61693498C>A	ClinVar
BRIP1	Q9BX63	p.Asn837Ser	rs1555574810	missense variant	-	NC_000017.11:g.61693495T>C	-
BRIP1	Q9BX63	p.Asn837Ser	RCV000569662	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693495T>C	ClinVar
BRIP1	Q9BX63	p.Asn837His	rs771929845	missense variant	-	NC_000017.11:g.61693496T>G	ExAC
BRIP1	Q9BX63	p.Asn837Ser	RCV000685372	missense variant	Familial cancer of breast	NC_000017.11:g.61693495T>C	ClinVar
BRIP1	Q9BX63	p.Asp838Val	RCV000689226	missense variant	Familial cancer of breast	NC_000017.11:g.61693492T>A	ClinVar
BRIP1	Q9BX63	p.Trp839Arg	RCV000773235	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693490A>T	ClinVar
BRIP1	Q9BX63	p.Trp839Arg	RCV000636142	missense variant	Familial cancer of breast	NC_000017.11:g.61693490A>T	ClinVar
BRIP1	Q9BX63	p.Trp839Ter	rs1555574803	stop gained	-	NC_000017.11:g.61693488C>T	-
BRIP1	Q9BX63	p.Trp839Arg	rs1555574807	missense variant	-	NC_000017.11:g.61693490A>T	-
BRIP1	Q9BX63	p.Trp839Ter	RCV000636075	nonsense	Familial cancer of breast	NC_000017.11:g.61693488C>T	ClinVar
BRIP1	Q9BX63	p.Gly840Ter	RCV000565568	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693488_61693489del	ClinVar
BRIP1	Q9BX63	p.Ala841Thr	RCV000573067	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693484C>T	ClinVar
BRIP1	Q9BX63	p.Ala841Thr	RCV000530868	missense variant	Familial cancer of breast	NC_000017.11:g.61693484C>T	ClinVar
BRIP1	Q9BX63	p.Ala841Thr	rs1555574790	missense variant	-	NC_000017.11:g.61693484C>T	-
BRIP1	Q9BX63	p.Leu842Val	rs786201802	missense variant	-	NC_000017.11:g.61693481G>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Leu842Val	rs786201802	missense variant	-	NC_000017.11:g.61693481G>C	-
BRIP1	Q9BX63	p.Leu842Phe	rs786201802	missense variant	-	NC_000017.11:g.61693481G>A	-
BRIP1	Q9BX63	p.Leu842Val	RCV000221450	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693481G>C	ClinVar
BRIP1	Q9BX63	p.Leu842Val	RCV000693924	missense variant	Familial cancer of breast	NC_000017.11:g.61693481G>C	ClinVar
BRIP1	Q9BX63	p.Leu842Phe	RCV000164278	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693481G>A	ClinVar
BRIP1	Q9BX63	p.Leu842Pro	rs1060501751	missense variant	-	NC_000017.11:g.61693480A>G	-
BRIP1	Q9BX63	p.Leu842Pro	RCV000456694	missense variant	Familial cancer of breast	NC_000017.11:g.61693480A>G	ClinVar
BRIP1	Q9BX63	p.Ile843Thr	rs996693020	missense variant	-	NC_000017.11:g.61693477A>G	-
BRIP1	Q9BX63	p.Ile843Met	rs1281537935	missense variant	-	NC_000017.11:g.61693476A>C	gnomAD
BRIP1	Q9BX63	p.Ile843Thr	RCV000820958	missense variant	Familial cancer of breast	NC_000017.11:g.61693477A>G	ClinVar
BRIP1	Q9BX63	p.Ile843Thr	RCV000773644	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693477A>G	ClinVar
BRIP1	Q9BX63	p.Leu844Pro	rs1555574776	missense variant	-	NC_000017.11:g.61693474A>G	-
BRIP1	Q9BX63	p.Leu844Pro	RCV000574404	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693474A>G	ClinVar
BRIP1	Q9BX63	p.Val845Ala	RCV000571541	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693471A>G	ClinVar
BRIP1	Q9BX63	p.Val845Ala	rs1555574775	missense variant	-	NC_000017.11:g.61693471A>G	-
BRIP1	Q9BX63	p.Asp846His	RCV000701138	missense variant	Familial cancer of breast	NC_000017.11:g.61693469C>G	ClinVar
BRIP1	Q9BX63	p.Asp846His	RCV000216557	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693469C>G	ClinVar
BRIP1	Q9BX63	p.Asp846His	rs876659409	missense variant	-	NC_000017.11:g.61693469C>G	-
BRIP1	Q9BX63	p.Asp847Asn	rs876659013	missense variant	-	NC_000017.11:g.61693466C>T	-
BRIP1	Q9BX63	p.Asp847Asn	RCV000538746	missense variant	Familial cancer of breast	NC_000017.11:g.61693466C>T	ClinVar
BRIP1	Q9BX63	p.Asp847Asn	RCV000215166	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693466C>T	ClinVar
BRIP1	Q9BX63	p.Arg848His	RCV000130056	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693462C>T	ClinVar
BRIP1	Q9BX63	p.Arg848His	RCV000699539	missense variant	Familial cancer of breast	NC_000017.11:g.61693462C>T	ClinVar
BRIP1	Q9BX63	p.Arg848His	RCV000663220	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693462C>T	ClinVar
BRIP1	Q9BX63	p.Arg848Gly	RCV000696907	missense variant	Familial cancer of breast	NC_000017.11:g.61693463G>C	ClinVar
BRIP1	Q9BX63	p.Arg848Cys	RCV000456342	missense variant	Familial cancer of breast	NC_000017.11:g.61693463G>A	ClinVar
BRIP1	Q9BX63	p.Arg848Gly	rs45572934	missense variant	-	NC_000017.11:g.61693463G>C	TOPMed
BRIP1	Q9BX63	p.Arg848His	rs374334794	missense variant	-	NC_000017.11:g.61693462C>T	ESP,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg848Cys	rs45572934	missense variant	-	NC_000017.11:g.61693463G>A	TOPMed
BRIP1	Q9BX63	p.Arg848Ser	rs45572934	missense variant	-	NC_000017.11:g.61693463G>T	TOPMed
BRIP1	Q9BX63	p.Arg848Ser	RCV000212326	missense variant	-	NC_000017.11:g.61693463G>T	ClinVar
BRIP1	Q9BX63	p.Arg848Gly	RCV000216369	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693463G>C	ClinVar
BRIP1	Q9BX63	p.Arg848Cys	RCV000570309	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693463G>A	ClinVar
BRIP1	Q9BX63	p.Arg848Ser	RCV000131711	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693463G>T	ClinVar
BRIP1	Q9BX63	p.Phe849Leu	RCV000165064	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693460A>G	ClinVar
BRIP1	Q9BX63	p.Phe849Leu	rs786202317	missense variant	-	NC_000017.11:g.61693460A>G	-
BRIP1	Q9BX63	p.Asn851Lys	RCV000130050	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693452A>C	ClinVar
BRIP1	Q9BX63	p.Asn851Lys	rs587781793	missense variant	-	NC_000017.11:g.61693452A>C	-
BRIP1	Q9BX63	p.Asn852Asp	RCV000556037	missense variant	Familial cancer of breast	NC_000017.11:g.61693451T>C	ClinVar
BRIP1	Q9BX63	p.Asn852Asp	RCV000218071	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693451T>C	ClinVar
BRIP1	Q9BX63	p.Asn852Asp	rs745782331	missense variant	-	NC_000017.11:g.61693451T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Pro853Arg	rs1060501775	missense variant	-	NC_000017.11:g.61693447G>C	gnomAD
BRIP1	Q9BX63	p.Pro853Arg	RCV000636106	missense variant	Familial cancer of breast	NC_000017.11:g.61693447G>C	ClinVar
BRIP1	Q9BX63	p.Pro853Leu	rs1060501775	missense variant	-	NC_000017.11:g.61693447G>A	gnomAD
BRIP1	Q9BX63	p.Pro853Leu	RCV000473074	missense variant	Familial cancer of breast	NC_000017.11:g.61693447G>A	ClinVar
BRIP1	Q9BX63	p.Arg855His	RCV000167924	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693441C>T	ClinVar
BRIP1	Q9BX63	p.Arg855Leu	RCV000464228	missense variant	Familial cancer of breast	NC_000017.11:g.61693441C>A	ClinVar
BRIP1	Q9BX63	p.Arg855His	RCV000116144	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693441C>T	ClinVar
BRIP1	Q9BX63	p.Arg855His	RCV000589567	missense variant	-	NC_000017.11:g.61693441C>T	ClinVar
BRIP1	Q9BX63	p.Arg855Cys	RCV000709538	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693442G>A	ClinVar
BRIP1	Q9BX63	p.Arg855Cys	RCV000780055	missense variant	-	NC_000017.11:g.61693442G>A	ClinVar
BRIP1	Q9BX63	p.Arg855Leu	RCV000580601	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693441C>A	ClinVar
BRIP1	Q9BX63	p.Arg855His	RCV000144588	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693441C>T	ClinVar
BRIP1	Q9BX63	p.Arg855His	rs200894063	missense variant	-	NC_000017.11:g.61693441C>T	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg855Leu	rs200894063	missense variant	-	NC_000017.11:g.61693441C>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg855Cys	rs146031731	missense variant	-	NC_000017.11:g.61693442G>A	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg855His	RCV000662940	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693441C>T	ClinVar
BRIP1	Q9BX63	p.Arg855Cys	RCV000662411	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693442G>A	ClinVar
BRIP1	Q9BX63	p.Arg855Cys	RCV000199690	missense variant	Familial cancer of breast	NC_000017.11:g.61693442G>A	ClinVar
BRIP1	Q9BX63	p.Arg855Cys	RCV000478148	missense variant	-	NC_000017.11:g.61693442G>A	ClinVar
BRIP1	Q9BX63	p.Arg855Cys	RCV000215624	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693442G>A	ClinVar
BRIP1	Q9BX63	p.Tyr856Cys	RCV000481563	missense variant	-	NC_000017.11:g.61693438T>C	ClinVar
BRIP1	Q9BX63	p.Tyr856Cys	RCV000663234	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61693438T>C	ClinVar
BRIP1	Q9BX63	p.Tyr856Cys	RCV000636158	missense variant	Familial cancer of breast	NC_000017.11:g.61693438T>C	ClinVar
BRIP1	Q9BX63	p.Tyr856Cys	RCV000569256	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693438T>C	ClinVar
BRIP1	Q9BX63	p.Tyr856Cys	rs781556845	missense variant	-	NC_000017.11:g.61693438T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile857Thr	RCV000567986	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61693435A>G	ClinVar
BRIP1	Q9BX63	p.Ile857Val	rs28904918	missense variant	-	NC_000017.11:g.61693436T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile857Thr	rs766432760	missense variant	-	NC_000017.11:g.61693435A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile857Met	rs1427254734	missense variant	-	NC_000017.11:g.61693434T>C	gnomAD
BRIP1	Q9BX63	p.Ser858Phe	rs1064793893	missense variant	-	NC_000017.11:g.61693432G>A	-
BRIP1	Q9BX63	p.Ser858Phe	RCV000478046	missense variant	-	NC_000017.11:g.61693432G>A	ClinVar
BRIP1	Q9BX63	p.Leu860Phe	RCV000636111	missense variant	Familial cancer of breast	NC_000017.11:g.61686163G>A	ClinVar
BRIP1	Q9BX63	p.Leu860Pro	RCV000196126	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686162A>G	ClinVar
BRIP1	Q9BX63	p.Leu860Pro	RCV000116146	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686162A>G	ClinVar
BRIP1	Q9BX63	p.Leu860Phe	rs1555573507	missense variant	-	NC_000017.11:g.61686163G>A	-
BRIP1	Q9BX63	p.Leu860Pro	rs587780242	missense variant	-	NC_000017.11:g.61686162A>G	-
BRIP1	Q9BX63	p.Leu860Pro	RCV000662554	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686162A>G	ClinVar
BRIP1	Q9BX63	p.Leu860Pro	RCV000212328	missense variant	-	NC_000017.11:g.61686162A>G	ClinVar
BRIP1	Q9BX63	p.Ser861Cys	RCV000533602	missense variant	Familial cancer of breast	NC_000017.11:g.61686159G>C	ClinVar
BRIP1	Q9BX63	p.Ser861Cys	RCV000167301	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686159G>C	ClinVar
BRIP1	Q9BX63	p.Ser861Cys	rs774415723	missense variant	-	NC_000017.11:g.61686159G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser861Pro	RCV000697306	missense variant	Familial cancer of breast	NC_000017.11:g.61686160A>G	ClinVar
BRIP1	Q9BX63	p.Ser861Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61686159G>A	NCI-TCGA
BRIP1	Q9BX63	p.Lys862Asn	RCV000570125	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686155T>A	ClinVar
BRIP1	Q9BX63	p.Lys862Asn	rs745318756	missense variant	-	NC_000017.11:g.61686155T>A	TOPMed
BRIP1	Q9BX63	p.Trp863Arg	RCV000219467	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686154A>G	ClinVar
BRIP1	Q9BX63	p.Trp863Arg	RCV000804466	missense variant	Familial cancer of breast	NC_000017.11:g.61686154A>G	ClinVar
BRIP1	Q9BX63	p.Trp863Ter	rs1555573497	stop gained	-	NC_000017.11:g.61686152C>T	-
BRIP1	Q9BX63	p.Trp863Arg	rs876660452	missense variant	-	NC_000017.11:g.61686154A>G	-
BRIP1	Q9BX63	p.Trp863Ter	RCV000636183	nonsense	Familial cancer of breast	NC_000017.11:g.61686152C>T	ClinVar
BRIP1	Q9BX63	p.Val864Ile	rs149529390	missense variant	-	NC_000017.11:g.61686151C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Val864Ala	rs1294102948	missense variant	-	NC_000017.11:g.61686150A>G	gnomAD
BRIP1	Q9BX63	p.Val864Ile	RCV000575702	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686151C>T	ClinVar
BRIP1	Q9BX63	p.Arg865Trp	rs578022079	missense variant	-	NC_000017.11:g.61686148G>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg865Trp	rs578022079	missense variant	-	NC_000017.11:g.61686148G>A	NCI-TCGA,NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Arg865Gln	RCV000507155	missense variant	-	NC_000017.11:g.61686147C>T	ClinVar
BRIP1	Q9BX63	p.Arg865Gln	RCV000198650	missense variant	Familial cancer of breast	NC_000017.11:g.61686147C>T	ClinVar
BRIP1	Q9BX63	p.Arg865Gln	RCV000165535	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686147C>T	ClinVar
BRIP1	Q9BX63	p.Arg865Trp	RCV000228828	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686148G>A	ClinVar
BRIP1	Q9BX63	p.Arg865Trp	RCV000662563	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686148G>A	ClinVar
BRIP1	Q9BX63	p.Arg865Gln	rs781609846	missense variant	-	NC_000017.11:g.61686147C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg865Trp	RCV000709537	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686148G>A	ClinVar
BRIP1	Q9BX63	p.Arg865Trp	RCV000586310	missense variant	-	NC_000017.11:g.61686148G>A	ClinVar
BRIP1	Q9BX63	p.Arg865Trp	RCV000217245	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686148G>A	ClinVar
BRIP1	Q9BX63	p.Gln866Ter	RCV000130366	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686147del	ClinVar
BRIP1	Q9BX63	p.Gln867Arg	rs747213803	missense variant	-	NC_000017.11:g.61686141T>C	ExAC
BRIP1	Q9BX63	p.Gln867Lys	rs182028200	missense variant	-	NC_000017.11:g.61686142G>T	1000Genomes
BRIP1	Q9BX63	p.Gln869Glu	rs1060501766	missense variant	-	NC_000017.11:g.61686136G>C	gnomAD
BRIP1	Q9BX63	p.Gln869Arg	rs1060501733	missense variant	-	NC_000017.11:g.61686135T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln869Glu	RCV000470789	missense variant	Familial cancer of breast	NC_000017.11:g.61686136G>C	ClinVar
BRIP1	Q9BX63	p.Gln869Arg	RCV000775728	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686135T>C	ClinVar
BRIP1	Q9BX63	p.Gln869Arg	RCV000461585	missense variant	Familial cancer of breast	NC_000017.11:g.61686135T>C	ClinVar
BRIP1	Q9BX63	p.Gln869Glu	RCV000584460	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686136G>C	ClinVar
BRIP1	Q9BX63	p.His870Pro	rs864622201	missense variant	-	NC_000017.11:g.61686132T>G	-
BRIP1	Q9BX63	p.His870Pro	RCV000206566	missense variant	Familial cancer of breast	NC_000017.11:g.61686132T>G	ClinVar
BRIP1	Q9BX63	p.His871Gln	rs199721657	missense variant	-	NC_000017.11:g.61686128A>T	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.His871Tyr	RCV000166525	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686130G>A	ClinVar
BRIP1	Q9BX63	p.His871Tyr	rs786203288	missense variant	-	NC_000017.11:g.61686130G>A	-
BRIP1	Q9BX63	p.His871Arg	rs1171326662	missense variant	-	NC_000017.11:g.61686129T>C	gnomAD
BRIP1	Q9BX63	p.Ser872Leu	rs587781964	missense variant	-	NC_000017.11:g.61686126G>A	-
BRIP1	Q9BX63	p.Ser872Leu	RCV000130343	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686126G>A	ClinVar
BRIP1	Q9BX63	p.Thr873Ser	RCV000216067	missense variant	-	NC_000017.11:g.61686124T>A	ClinVar
BRIP1	Q9BX63	p.Thr873Ala	rs758444508	missense variant	-	NC_000017.11:g.61686124T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr873Ala	RCV000571092	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686124T>C	ClinVar
BRIP1	Q9BX63	p.Thr873Ala	RCV000557628	missense variant	Familial cancer of breast	NC_000017.11:g.61686124T>C	ClinVar
BRIP1	Q9BX63	p.Thr873Ser	rs758444508	missense variant	-	NC_000017.11:g.61686124T>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu875Gln	rs876659099	missense variant	-	NC_000017.11:g.61686118C>G	gnomAD
BRIP1	Q9BX63	p.Glu875Gln	RCV000223507	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686118C>G	ClinVar
BRIP1	Q9BX63	p.Glu875Gln	RCV000231669	missense variant	Familial cancer of breast	NC_000017.11:g.61686118C>G	ClinVar
BRIP1	Q9BX63	p.Ser876Asn	rs750961319	missense variant	-	NC_000017.11:g.61686114C>T	NCI-TCGA
BRIP1	Q9BX63	p.Ser876Asn	rs750961319	missense variant	-	NC_000017.11:g.61686114C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser876Asn	RCV000565343	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686114C>T	ClinVar
BRIP1	Q9BX63	p.Ser876Arg	rs1032574757	missense variant	-	NC_000017.11:g.61686113A>C	gnomAD
BRIP1	Q9BX63	p.Ser876Gly	RCV000636171	missense variant	Familial cancer of breast	NC_000017.11:g.61686115T>C	ClinVar
BRIP1	Q9BX63	p.Ser876Gly	rs1555573469	missense variant	-	NC_000017.11:g.61686115T>C	-
BRIP1	Q9BX63	p.Ser876Arg	RCV000482339	missense variant	-	NC_000017.11:g.61686113A>C	ClinVar
BRIP1	Q9BX63	p.Ser876Arg	RCV000705219	missense variant	Familial cancer of breast	NC_000017.11:g.61686113A>C	ClinVar
BRIP1	Q9BX63	p.Ala877Val	rs1555573465	missense variant	-	NC_000017.11:g.61686111G>A	-
BRIP1	Q9BX63	p.Ala877Val	RCV000533672	missense variant	Familial cancer of breast	NC_000017.11:g.61686111G>A	ClinVar
BRIP1	Q9BX63	p.Ala877Pro	RCV000690686	missense variant	Familial cancer of breast	NC_000017.11:g.61686112C>G	ClinVar
BRIP1	Q9BX63	p.Ala877Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61686112C>T	NCI-TCGA
BRIP1	Q9BX63	p.Glu879Lys	rs1391013628	missense variant	-	NC_000017.11:g.61686106C>T	TOPMed
BRIP1	Q9BX63	p.Glu879Ala	rs1202665874	missense variant	-	NC_000017.11:g.61686105T>G	gnomAD
BRIP1	Q9BX63	p.Glu879Lys	RCV000691813	missense variant	Familial cancer of breast	NC_000017.11:g.61686106C>T	ClinVar
BRIP1	Q9BX63	p.Ser880Phe	rs1217852974	missense variant	-	NC_000017.11:g.61686102G>A	gnomAD
BRIP1	Q9BX63	p.Leu881Ter	RCV000705615	frameshift	Familial cancer of breast	NC_000017.11:g.61686102del	ClinVar
BRIP1	Q9BX63	p.Glu883Ala	RCV000761995	missense variant	-	NC_000017.11:g.61686093T>G	ClinVar
BRIP1	Q9BX63	p.Glu883Ala	rs1453990721	missense variant	-	NC_000017.11:g.61686093T>G	TOPMed
BRIP1	Q9BX63	p.Phe884Ile	RCV000116147	missense variant	-	NC_000017.11:g.61686091A>T	ClinVar
BRIP1	Q9BX63	p.Phe884Ile	rs587780243	missense variant	-	NC_000017.11:g.61686091A>T	-
BRIP1	Q9BX63	p.Phe884Leu	RCV000562212	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686089A>C	ClinVar
BRIP1	Q9BX63	p.Phe884Leu	rs1555573451	missense variant	-	NC_000017.11:g.61686089A>C	-
BRIP1	Q9BX63	p.His888Tyr	RCV000561017	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686079G>A	ClinVar
BRIP1	Q9BX63	p.His888Tyr	RCV000411371	missense variant	Neoplasm of ovary	NC_000017.11:g.61686079G>A	ClinVar
BRIP1	Q9BX63	p.His888Tyr	RCV000679782	missense variant	-	NC_000017.11:g.61686079G>A	ClinVar
BRIP1	Q9BX63	p.His888Tyr	RCV000410305	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686079G>A	ClinVar
BRIP1	Q9BX63	p.His888Tyr	RCV000198208	missense variant	Familial cancer of breast	NC_000017.11:g.61686079G>A	ClinVar
BRIP1	Q9BX63	p.His888Tyr	rs757668121	missense variant	-	NC_000017.11:g.61686079G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys890Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61686073T>G	NCI-TCGA
BRIP1	Q9BX63	p.Val891Leu	RCV000571380	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686070C>G	ClinVar
BRIP1	Q9BX63	p.Val891Leu	rs754224663	missense variant	-	NC_000017.11:g.61686070C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Val891Ile	rs754224663	missense variant	-	NC_000017.11:g.61686070C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Val894Ter	RCV000481257	nonsense	-	NC_000017.11:g.61686056_61686059del	ClinVar
BRIP1	Q9BX63	p.Val894Ter	RCV000563726	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686056_61686059del	ClinVar
BRIP1	Q9BX63	p.Val894Ter	RCV000232131	nonsense	Familial cancer of breast	NC_000017.11:g.61686056_61686059del	ClinVar
BRIP1	Q9BX63	p.Val894Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61686060A>T	NCI-TCGA
BRIP1	Q9BX63	p.Ser895Tyr	RCV000503950	missense variant	-	NC_000017.11:g.61686057G>T	ClinVar
BRIP1	Q9BX63	p.Ser895Tyr	rs1555573437	missense variant	-	NC_000017.11:g.61686057G>T	-
BRIP1	Q9BX63	p.Ser895Phe	COSM3520424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61686057G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ile896Val	rs764406913	missense variant	-	NC_000017.11:g.61686055T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile896Leu	RCV000547656	missense variant	Familial cancer of breast	NC_000017.11:g.61686055T>G	ClinVar
BRIP1	Q9BX63	p.Ile896Val	RCV000222623	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686055T>C	ClinVar
BRIP1	Q9BX63	p.Ile896Leu	rs764406913	missense variant	-	NC_000017.11:g.61686055T>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys897Glu	rs587781644	missense variant	-	NC_000017.11:g.61686052T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys897Glu	RCV000129774	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686052T>C	ClinVar
BRIP1	Q9BX63	p.Lys897Glu	RCV000478765	missense variant	-	NC_000017.11:g.61686052T>C	ClinVar
BRIP1	Q9BX63	p.Asp898Val	rs752340544	missense variant	-	NC_000017.11:g.61686048T>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp898Asn	COSM4068420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61686049C>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Thr900Ser	rs1359809807	missense variant	-	NC_000017.11:g.61686042G>C	gnomAD
BRIP1	Q9BX63	p.Ile902Met	RCV000656814	missense variant	-	NC_000017.11:g.61686035T>C	ClinVar
BRIP1	Q9BX63	p.Ile902Met	RCV000229209	missense variant	Familial cancer of breast	NC_000017.11:g.61686035T>C	ClinVar
BRIP1	Q9BX63	p.Ile902Met	RCV000412341	missense variant	Neoplasm of ovary	NC_000017.11:g.61686035T>C	ClinVar
BRIP1	Q9BX63	p.Ile902Met	rs587780244	missense variant	-	NC_000017.11:g.61686035T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile902Thr	rs1060501781	missense variant	-	NC_000017.11:g.61686036A>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile902Thr	RCV000589053	missense variant	-	NC_000017.11:g.61686036A>G	ClinVar
BRIP1	Q9BX63	p.Ile902Thr	RCV000465302	missense variant	Familial cancer of breast	NC_000017.11:g.61686036A>G	ClinVar
BRIP1	Q9BX63	p.Ile902Thr	RCV000773139	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686036A>G	ClinVar
BRIP1	Q9BX63	p.Ile902Met	RCV000212329	missense variant	-	NC_000017.11:g.61686035T>C	ClinVar
BRIP1	Q9BX63	p.Ile902Met	RCV000410789	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61686035T>C	ClinVar
BRIP1	Q9BX63	p.Asp904Asn	RCV000636161	missense variant	Familial cancer of breast	NC_000017.11:g.61686031C>T	ClinVar
BRIP1	Q9BX63	p.Asp904Asn	rs1555573413	missense variant	-	NC_000017.11:g.61686031C>T	-
BRIP1	Q9BX63	p.Asn905Ser	RCV000540935	missense variant	Familial cancer of breast	NC_000017.11:g.61686027T>C	ClinVar
BRIP1	Q9BX63	p.Asn905Ser	rs1555573412	missense variant	-	NC_000017.11:g.61686027T>C	-
BRIP1	Q9BX63	p.Asn905Lys	RCV000773669	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686026A>C	ClinVar
BRIP1	Q9BX63	p.Glu906Gly	rs876659677	missense variant	-	NC_000017.11:g.61686024T>C	-
BRIP1	Q9BX63	p.Glu906Gly	RCV000220706	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686024T>C	ClinVar
BRIP1	Q9BX63	p.Glu906Lys	rs759080195	missense variant	-	NC_000017.11:g.61686025C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr908Ile	RCV000699974	missense variant	Familial cancer of breast	NC_000017.11:g.61686018G>A	ClinVar
BRIP1	Q9BX63	p.Thr908Ile	RCV000586440	missense variant	-	NC_000017.11:g.61686018G>A	ClinVar
BRIP1	Q9BX63	p.Thr908Ile	RCV000164448	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686018G>A	ClinVar
BRIP1	Q9BX63	p.Thr908Ile	rs786201919	missense variant	-	NC_000017.11:g.61686018G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu909Arg	RCV000392670	missense variant	-	NC_000017.11:g.61686015A>C	ClinVar
BRIP1	Q9BX63	p.Leu909Pro	RCV000775413	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686015A>G	ClinVar
BRIP1	Q9BX63	p.Leu909Arg	RCV000462258	missense variant	Familial cancer of breast	NC_000017.11:g.61686015A>C	ClinVar
BRIP1	Q9BX63	p.Leu909Pro	RCV000548026	missense variant	Familial cancer of breast	NC_000017.11:g.61686015A>G	ClinVar
BRIP1	Q9BX63	p.Leu909Val	RCV000130159	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686016G>C	ClinVar
BRIP1	Q9BX63	p.Leu909Pro	rs770966270	missense variant	-	NC_000017.11:g.61686015A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu909Val	rs587781853	missense variant	-	NC_000017.11:g.61686016G>C	-
BRIP1	Q9BX63	p.Leu909Arg	rs770966270	missense variant	-	NC_000017.11:g.61686015A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu910Gln	RCV000563513	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686013C>G	ClinVar
BRIP1	Q9BX63	p.Glu910Gln	RCV000484483	missense variant	-	NC_000017.11:g.61686013C>G	ClinVar
BRIP1	Q9BX63	p.Glu910Gln	rs1007808618	missense variant	-	NC_000017.11:g.61686013C>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu910Gln	rs1007808618	missense variant	-	NC_000017.11:g.61686013C>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Glu910Gln	RCV000817172	missense variant	Familial cancer of breast	NC_000017.11:g.61686013C>G	ClinVar
BRIP1	Q9BX63	p.Glu910Lys	rs1007808618	missense variant	-	NC_000017.11:g.61686013C>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Val911Leu	rs1555573392	missense variant	-	NC_000017.11:g.61686010C>G	-
BRIP1	Q9BX63	p.Val911Leu	RCV000583378	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686010C>G	ClinVar
BRIP1	Q9BX63	p.Thr912Asn	rs571949350	missense variant	-	NC_000017.11:g.61686006G>T	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr912Ter	RCV000657456	frameshift	-	NC_000017.11:g.61686009dup	ClinVar
BRIP1	Q9BX63	p.Thr912Ter	RCV000469617	frameshift	Familial cancer of breast	NC_000017.11:g.61686009dup	ClinVar
BRIP1	Q9BX63	p.Thr912Ter	RCV000570668	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686009dup	ClinVar
BRIP1	Q9BX63	p.Thr912Ile	rs571949350	missense variant	-	NC_000017.11:g.61686006G>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser913Phe	rs1028504408	missense variant	-	NC_000017.11:g.61686003G>A	TOPMed
BRIP1	Q9BX63	p.Ser913Ala	RCV000565233	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686004A>C	ClinVar
BRIP1	Q9BX63	p.Ser913Ala	rs1555573382	missense variant	-	NC_000017.11:g.61686004A>C	NCI-TCGA
BRIP1	Q9BX63	p.Ser913Ter	RCV000571316	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686004del	ClinVar
BRIP1	Q9BX63	p.Ser913Ala	rs1555573382	missense variant	-	NC_000017.11:g.61686004A>C	-
BRIP1	Q9BX63	p.Ser913Phe	rs1028504408	missense variant	-	NC_000017.11:g.61686003G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Leu914Ser	RCV000575449	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61686000A>G	ClinVar
BRIP1	Q9BX63	p.Leu914Ser	rs886053215	missense variant	-	NC_000017.11:g.61686000A>G	-
BRIP1	Q9BX63	p.Leu914Ser	RCV000394613	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61686000A>G	ClinVar
BRIP1	Q9BX63	p.Leu914Ser	RCV000815188	missense variant	Familial cancer of breast	NC_000017.11:g.61686000A>G	ClinVar
BRIP1	Q9BX63	p.Leu914Ser	RCV000343331	missense variant	Neoplasm of the breast	NC_000017.11:g.61686000A>G	ClinVar
BRIP1	Q9BX63	p.Ser917Asn	rs1555573369	missense variant	-	NC_000017.11:g.61685991C>T	-
BRIP1	Q9BX63	p.Ser917Asn	RCV000584587	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685991C>T	ClinVar
BRIP1	Q9BX63	p.Thr918Ala	rs1060501759	missense variant	-	NC_000017.11:g.61685989T>C	-
BRIP1	Q9BX63	p.Thr918Asn	rs587781298	missense variant	-	NC_000017.11:g.61685988G>T	-
BRIP1	Q9BX63	p.Thr918Ile	RCV000129006	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685988G>A	ClinVar
BRIP1	Q9BX63	p.Thr918Asn	RCV000160323	missense variant	-	NC_000017.11:g.61685988G>T	ClinVar
BRIP1	Q9BX63	p.Thr918Ile	rs587781298	missense variant	-	NC_000017.11:g.61685988G>A	-
BRIP1	Q9BX63	p.Thr918Ala	RCV000477291	missense variant	Familial cancer of breast	NC_000017.11:g.61685989T>C	ClinVar
BRIP1	Q9BX63	p.Ser919Pro	rs4986764	missense variant	-	NC_000017.11:g.61685986A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser919Pro	RCV000286073	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61685986A>G	ClinVar
BRIP1	Q9BX63	p.Ser919Pro	RCV000377937	missense variant	Neoplasm of the breast	NC_000017.11:g.61685986A>G	ClinVar
BRIP1	Q9BX63	p.Leu922Ter	rs587782410	stop gained	-	NC_000017.11:g.61685976A>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu922Ter	RCV000588116	nonsense	Hereditary breast and ovarian cancer syndrome (HBOC)	NC_000017.11:g.61685976A>C	ClinVar
BRIP1	Q9BX63	p.Glu924Lys	rs1555573342	missense variant	-	NC_000017.11:g.61685971C>T	-
BRIP1	Q9BX63	p.Glu924Asp	RCV000160324	missense variant	-	NC_000017.11:g.61685969T>G	ClinVar
BRIP1	Q9BX63	p.Glu924Lys	RCV000636143	missense variant	Familial cancer of breast	NC_000017.11:g.61685971C>T	ClinVar
BRIP1	Q9BX63	p.Glu924Asp	rs730881625	missense variant	-	NC_000017.11:g.61685969T>G	-
BRIP1	Q9BX63	p.Ala926Thr	rs1003917080	missense variant	-	NC_000017.11:g.61685965C>T	TOPMed
BRIP1	Q9BX63	p.Ala926Val	rs1483709056	missense variant	-	NC_000017.11:g.61685964G>A	gnomAD
BRIP1	Q9BX63	p.Ala926Val	RCV000583724	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685964G>A	ClinVar
BRIP1	Q9BX63	p.Leu929Pro	RCV000579584	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685955A>G	ClinVar
BRIP1	Q9BX63	p.Leu929Ter	RCV000636079	frameshift	Familial cancer of breast	NC_000017.11:g.61685955_61685958del	ClinVar
BRIP1	Q9BX63	p.Leu929Pro	rs772087074	missense variant	-	NC_000017.11:g.61685955A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu929Arg	rs772087074	missense variant	-	NC_000017.11:g.61685955A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser930Pro	rs1384396768	missense variant	-	NC_000017.11:g.61685953A>G	TOPMed
BRIP1	Q9BX63	p.Ser930Pro	RCV000772038	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685953A>G	ClinVar
BRIP1	Q9BX63	p.Pro931Thr	rs745940032	missense variant	-	NC_000017.11:g.61685950G>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Pro931Ter	RCV000636071	frameshift	Familial cancer of breast	NC_000017.11:g.61685950del	ClinVar
BRIP1	Q9BX63	p.Pro931Gln	rs932408573	missense variant	-	NC_000017.11:g.61685949G>T	TOPMed
BRIP1	Q9BX63	p.Pro931Gln	RCV000574168	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685949G>T	ClinVar
BRIP1	Q9BX63	p.Pro931Ter	RCV000465431	frameshift	Familial cancer of breast	NC_000017.11:g.61685955_61685958dup	ClinVar
BRIP1	Q9BX63	p.Phe934Val	rs863224801	missense variant	-	NC_000017.11:g.61685941A>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Phe934Leu	rs1259968679	missense variant	-	NC_000017.11:g.61685939A>C	gnomAD
BRIP1	Q9BX63	p.Phe934Ser	RCV000221756	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685940A>G	ClinVar
BRIP1	Q9BX63	p.Phe934Val	RCV000408962	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685941A>C	ClinVar
BRIP1	Q9BX63	p.Phe934Val	RCV000410527	missense variant	Neoplasm of ovary	NC_000017.11:g.61685941A>C	ClinVar
BRIP1	Q9BX63	p.Phe934Leu	RCV000692123	missense variant	Familial cancer of breast	NC_000017.11:g.61685939A>C	ClinVar
BRIP1	Q9BX63	p.Phe934Val	RCV000200748	missense variant	Familial cancer of breast	NC_000017.11:g.61685941A>C	ClinVar
BRIP1	Q9BX63	p.Phe934Val	RCV000567218	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685941A>C	ClinVar
BRIP1	Q9BX63	p.Phe934Ser	rs778916092	missense variant	-	NC_000017.11:g.61685940A>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Phe934Val	rs863224801	missense variant	-	NC_000017.11:g.61685941A>C	TOPMed
BRIP1	Q9BX63	p.Phe934Leu	RCV000679783	missense variant	-	NC_000017.11:g.61685939A>C	ClinVar
BRIP1	Q9BX63	p.Phe934Leu	RCV000507680	missense variant	-	NC_000017.11:g.61685939A>C	ClinVar
BRIP1	Q9BX63	p.Phe934Cys	COSM1385000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61685940A>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Val935Met	rs1219152456	missense variant	-	NC_000017.11:g.61685938C>T	gnomAD
BRIP1	Q9BX63	p.Val935Gly	RCV000213879	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685937A>C	ClinVar
BRIP1	Q9BX63	p.Val935Gly	rs4988356	missense variant	-	NC_000017.11:g.61685937A>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Val935Met	RCV000780065	missense variant	-	NC_000017.11:g.61685938C>T	ClinVar
BRIP1	Q9BX63	p.Glu936Val	RCV000230139	missense variant	Familial cancer of breast	NC_000017.11:g.61685934T>A	ClinVar
BRIP1	Q9BX63	p.Glu936Lys	rs754280048	missense variant	-	NC_000017.11:g.61685935C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu936Val	rs878855149	missense variant	-	NC_000017.11:g.61685934T>A	-
BRIP1	Q9BX63	p.Glu938Lys	RCV000574686	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685929C>T	ClinVar
BRIP1	Q9BX63	p.Glu938Lys	rs199643061	missense variant	-	NC_000017.11:g.61685929C>T	-
BRIP1	Q9BX63	p.Ala939Gly	RCV000775412	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685925G>C	ClinVar
BRIP1	Q9BX63	p.Ala939Gly	RCV000553783	missense variant	Familial cancer of breast	NC_000017.11:g.61685925G>C	ClinVar
BRIP1	Q9BX63	p.Ala939Gly	RCV000522943	missense variant	-	NC_000017.11:g.61685925G>C	ClinVar
BRIP1	Q9BX63	p.Ala939Gly	rs756490117	missense variant	-	NC_000017.11:g.61685925G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Cys942Tyr	RCV000221289	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685916C>T	ClinVar
BRIP1	Q9BX63	p.Cys942Arg	RCV000706890	missense variant	Familial cancer of breast	NC_000017.11:g.61685917A>G	ClinVar
BRIP1	Q9BX63	p.Cys942Tyr	rs370330739	missense variant	-	NC_000017.11:g.61685916C>T	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Cys942Tyr	rs370330739	missense variant	-	NC_000017.11:g.61685916C>T	NCI-TCGA
BRIP1	Q9BX63	p.Val943Ala	rs786204143	missense variant	-	NC_000017.11:g.61685913A>G	-
BRIP1	Q9BX63	p.Val943Ile	rs1401830781	missense variant	-	NC_000017.11:g.61685914C>T	gnomAD
BRIP1	Q9BX63	p.Val943Leu	rs1401830781	missense variant	-	NC_000017.11:g.61685914C>G	gnomAD
BRIP1	Q9BX63	p.Val943Leu	RCV000697488	missense variant	Familial cancer of breast	NC_000017.11:g.61685914C>G	ClinVar
BRIP1	Q9BX63	p.Val943Ala	RCV000168126	missense variant	Familial cancer of breast	NC_000017.11:g.61685913A>G	ClinVar
BRIP1	Q9BX63	p.Gln944Glu	rs140233356	missense variant	-	NC_000017.11:g.61685911G>C	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln944Arg	rs148232408	missense variant	-	NC_000017.11:g.61685910T>C	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Gln944Pro	rs148232408	missense variant	-	NC_000017.11:g.61685910T>G	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Gln944Ter	RCV000576521	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685911G>A	ClinVar
BRIP1	Q9BX63	p.Gln944Ter	rs140233356	stop gained	-	NC_000017.11:g.61685911G>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gln944Glu	RCV000409338	missense variant	Neoplasm of ovary	NC_000017.11:g.61685911G>C	ClinVar
BRIP1	Q9BX63	p.Gln944Arg	RCV000217954	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685910T>C	ClinVar
BRIP1	Q9BX63	p.Gln944Glu	RCV000411198	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685911G>C	ClinVar
BRIP1	Q9BX63	p.Gln944Glu	RCV000585934	missense variant	-	NC_000017.11:g.61685911G>C	ClinVar
BRIP1	Q9BX63	p.Gln944Glu	RCV000116149	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685911G>C	ClinVar
BRIP1	Q9BX63	p.Gln944Glu	RCV000199089	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685911G>C	ClinVar
BRIP1	Q9BX63	p.Gln944Arg	RCV000694637	missense variant	Familial cancer of breast	NC_000017.11:g.61685910T>C	ClinVar
BRIP1	Q9BX63	p.Glu945Ter	RCV000215452	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685909del	ClinVar
BRIP1	Q9BX63	p.Glu945Gln	RCV000195543	missense variant	Familial cancer of breast	NC_000017.11:g.61685908C>G	ClinVar
BRIP1	Q9BX63	p.Glu945Gln	RCV000775411	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685908C>G	ClinVar
BRIP1	Q9BX63	p.Glu945Gln	rs863224802	missense variant	-	NC_000017.11:g.61685908C>G	TOPMed
BRIP1	Q9BX63	p.Gln947Arg	rs876659756	missense variant	-	NC_000017.11:g.61685901T>C	-
BRIP1	Q9BX63	p.Gln947Arg	RCV000529936	missense variant	Familial cancer of breast	NC_000017.11:g.61685901T>C	ClinVar
BRIP1	Q9BX63	p.Gln947Pro	RCV000564956	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685901T>G	ClinVar
BRIP1	Q9BX63	p.Gln947Arg	RCV000221925	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685901T>C	ClinVar
BRIP1	Q9BX63	p.Gln947Pro	rs876659756	missense variant	-	NC_000017.11:g.61685901T>G	-
BRIP1	Q9BX63	p.Cys948Trp	RCV000773825	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685897A>C	ClinVar
BRIP1	Q9BX63	p.Lys950Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61685892T>G	NCI-TCGA
BRIP1	Q9BX63	p.Ile951Val	RCV000160325	missense variant	-	NC_000017.11:g.61685890T>C	ClinVar
BRIP1	Q9BX63	p.Ile951Val	RCV000775410	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685890T>C	ClinVar
BRIP1	Q9BX63	p.Ile951Val	rs730881626	missense variant	-	NC_000017.11:g.61685890T>C	-
BRIP1	Q9BX63	p.Ile952Ser	rs1060501735	missense variant	-	NC_000017.11:g.61685886A>C	gnomAD
BRIP1	Q9BX63	p.Ile952Val	RCV000709536	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685887T>C	ClinVar
BRIP1	Q9BX63	p.Ile952Val	RCV000662447	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685887T>C	ClinVar
BRIP1	Q9BX63	p.Ile952Val	rs200239986	missense variant	-	NC_000017.11:g.61685887T>C	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile952Ser	RCV000463491	missense variant	Familial cancer of breast	NC_000017.11:g.61685886A>C	ClinVar
BRIP1	Q9BX63	p.Ile952Val	RCV000227974	missense variant	Familial cancer of breast	NC_000017.11:g.61685887T>C	ClinVar
BRIP1	Q9BX63	p.Ile952Val	RCV000214349	missense variant	-	NC_000017.11:g.61685887T>C	ClinVar
BRIP1	Q9BX63	p.Ile952Ser	RCV000565471	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685886A>C	ClinVar
BRIP1	Q9BX63	p.Thr953Ile	RCV000758993	missense variant	-	NC_000017.11:g.61685883G>A	ClinVar
BRIP1	Q9BX63	p.Thr953Pro	rs587780245	missense variant	-	NC_000017.11:g.61685884T>G	-
BRIP1	Q9BX63	p.Thr953Ile	rs201672040	missense variant	-	NC_000017.11:g.61685883G>A	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Thr953Pro	RCV000116150	missense variant	-	NC_000017.11:g.61685884T>G	ClinVar
BRIP1	Q9BX63	p.Asn955Asp	RCV000468640	missense variant	Familial cancer of breast	NC_000017.11:g.61685878T>C	ClinVar
BRIP1	Q9BX63	p.Asn955His	RCV000464105	missense variant	Familial cancer of breast	NC_000017.11:g.61685878T>G	ClinVar
BRIP1	Q9BX63	p.Asn955His	rs587782244	missense variant	-	NC_000017.11:g.61685878T>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn955Asp	rs587782244	missense variant	-	NC_000017.11:g.61685878T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn955Asp	RCV000579631	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685878T>C	ClinVar
BRIP1	Q9BX63	p.Asn955His	RCV000367894	missense variant	-	NC_000017.11:g.61685878T>G	ClinVar
BRIP1	Q9BX63	p.Asn955His	RCV000130948	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685878T>G	ClinVar
BRIP1	Q9BX63	p.Ser956Ter	RCV000576318	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685874G>C	ClinVar
BRIP1	Q9BX63	p.Ser956Leu	rs761639530	missense variant	-	NC_000017.11:g.61685874G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser956Ter	rs761639530	stop gained	-	NC_000017.11:g.61685874G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser956Leu	rs761639530	missense variant	-	NC_000017.11:g.61685874G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Pro957Leu	rs786203077	missense variant	-	NC_000017.11:g.61685871G>A	-
BRIP1	Q9BX63	p.Pro957Leu	RCV000508234	missense variant	-	NC_000017.11:g.61685871G>A	ClinVar
BRIP1	Q9BX63	p.Pro957Leu	RCV000166219	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685871G>A	ClinVar
BRIP1	Q9BX63	p.Pro957Leu	RCV000469949	missense variant	Familial cancer of breast	NC_000017.11:g.61685871G>A	ClinVar
BRIP1	Q9BX63	p.Leu958Gln	RCV000588258	missense variant	-	NC_000017.11:g.61685868A>T	ClinVar
BRIP1	Q9BX63	p.Leu958Gln	rs145859791	missense variant	-	NC_000017.11:g.61685868A>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu958Gln	RCV000542669	missense variant	Familial cancer of breast	NC_000017.11:g.61685868A>T	ClinVar
BRIP1	Q9BX63	p.Leu958Gln	RCV000166915	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685868A>T	ClinVar
BRIP1	Q9BX63	p.Pro959Arg	RCV000709535	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685865G>C	ClinVar
BRIP1	Q9BX63	p.Pro959Arg	RCV000796026	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685865G>C	ClinVar
BRIP1	Q9BX63	p.Ser961Asn	rs1060501732	missense variant	-	NC_000017.11:g.61685859C>T	-
BRIP1	Q9BX63	p.Ser961Asn	RCV000461289	missense variant	Familial cancer of breast	NC_000017.11:g.61685859C>T	ClinVar
BRIP1	Q9BX63	p.Ile962Thr	rs786201632	missense variant	-	NC_000017.11:g.61685856A>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile962Thr	RCV000662667	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685856A>G	ClinVar
BRIP1	Q9BX63	p.Ile962Thr	RCV000164008	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685856A>G	ClinVar
BRIP1	Q9BX63	p.Ile962Thr	RCV000586686	missense variant	-	NC_000017.11:g.61685856A>G	ClinVar
BRIP1	Q9BX63	p.Ile962Thr	RCV000197368	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61685856A>G	ClinVar
BRIP1	Q9BX63	p.Arg965Gly	rs113697814	missense variant	-	NC_000017.11:g.61685848T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu967Lys	rs1305928655	missense variant	-	NC_000017.11:g.61685842C>T	NCI-TCGA
BRIP1	Q9BX63	p.Glu967Gly	rs1176224216	missense variant	-	NC_000017.11:g.61685841T>C	TOPMed
BRIP1	Q9BX63	p.Glu967Lys	rs1305928655	missense variant	-	NC_000017.11:g.61685842C>T	gnomAD
BRIP1	Q9BX63	p.Glu967Gly	RCV000562545	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685841T>C	ClinVar
BRIP1	Q9BX63	p.Glu967Lys	RCV000636061	missense variant	Familial cancer of breast	NC_000017.11:g.61685842C>T	ClinVar
BRIP1	Q9BX63	p.Glu967Lys	RCV000771510	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685842C>T	ClinVar
BRIP1	Q9BX63	p.Lys968Glu	rs587782679	missense variant	-	NC_000017.11:g.61685839T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys968Glu	RCV000132105	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61685839T>C	ClinVar
BRIP1	Q9BX63	p.Asp970Asn	rs1555572994	missense variant	-	NC_000017.11:g.61684138C>T	-
BRIP1	Q9BX63	p.Asp970Asn	RCV000531641	missense variant	Familial cancer of breast	NC_000017.11:g.61684138C>T	ClinVar
BRIP1	Q9BX63	p.Val972Ile	RCV000662959	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684132C>T	ClinVar
BRIP1	Q9BX63	p.Val972Ile	RCV000472014	missense variant	Familial cancer of breast	NC_000017.11:g.61684132C>T	ClinVar
BRIP1	Q9BX63	p.Val972Ile	RCV000709533	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684132C>T	ClinVar
BRIP1	Q9BX63	p.Val972Ile	RCV000166442	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684132C>T	ClinVar
BRIP1	Q9BX63	p.Val972Ile	rs786203224	missense variant	-	NC_000017.11:g.61684132C>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Phe973Ile	RCV000775755	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684129A>T	ClinVar
BRIP1	Q9BX63	p.Phe973Ile	rs1060501727	missense variant	-	NC_000017.11:g.61684129A>T	-
BRIP1	Q9BX63	p.Phe973Ile	RCV000470953	missense variant	Familial cancer of breast	NC_000017.11:g.61684129A>T	ClinVar
BRIP1	Q9BX63	p.Ala977Val	rs770352467	missense variant	-	NC_000017.11:g.61684116G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala977Pro	RCV000204833	missense variant	Familial cancer of breast	NC_000017.11:g.61684117C>G	ClinVar
BRIP1	Q9BX63	p.Ala977Pro	rs864622628	missense variant	-	NC_000017.11:g.61684117C>G	-
BRIP1	Q9BX63	p.Gly978Glu	rs587780246	missense variant	-	NC_000017.11:g.61684113C>T	-
BRIP1	Q9BX63	p.Gly978Glu	RCV000116151	missense variant	-	NC_000017.11:g.61684113C>T	ClinVar
BRIP1	Q9BX63	p.Lys979Glu	RCV000160326	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684111T>C	ClinVar
BRIP1	Q9BX63	p.Lys979Glu	rs730881627	missense variant	-	NC_000017.11:g.61684111T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys979Glu	RCV000212331	missense variant	-	NC_000017.11:g.61684111T>C	ClinVar
BRIP1	Q9BX63	p.Lys979Glu	RCV000205057	missense variant	Familial cancer of breast	NC_000017.11:g.61684111T>C	ClinVar
BRIP1	Q9BX63	p.Ala980Val	rs781622986	missense variant	-	NC_000017.11:g.61684107G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Lys982Glu	rs1316369686	missense variant	-	NC_000017.11:g.61684102T>C	gnomAD
BRIP1	Q9BX63	p.Lys982Glu	RCV000773059	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684102T>C	ClinVar
BRIP1	Q9BX63	p.Ile983Ter	RCV000527467	frameshift	Familial cancer of breast	NC_000017.11:g.61684104del	ClinVar
BRIP1	Q9BX63	p.Ile983Ter	RCV000708605	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684104del	ClinVar
BRIP1	Q9BX63	p.Ile983Ter	RCV000580476	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684104dup	ClinVar
BRIP1	Q9BX63	p.Ile983Ter	RCV000470250	frameshift	Familial cancer of breast	NC_000017.11:g.61684104dup	ClinVar
BRIP1	Q9BX63	p.Ile983Met	RCV000581206	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684097A>C	ClinVar
BRIP1	Q9BX63	p.Ile983Asn	RCV000129283	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684098A>T	ClinVar
BRIP1	Q9BX63	p.Ile983Asn	RCV000636117	missense variant	Familial cancer of breast	NC_000017.11:g.61684098A>T	ClinVar
BRIP1	Q9BX63	p.Ile983Met	rs746715917	missense variant	-	NC_000017.11:g.61684097A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile983Asn	rs587781417	missense variant	-	NC_000017.11:g.61684098A>T	-
BRIP1	Q9BX63	p.Ile983Phe	rs755337038	missense variant	-	NC_000017.11:g.61684099T>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile983Asn	RCV000412403	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684098A>T	ClinVar
BRIP1	Q9BX63	p.Ile983LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61684099T>-	NCI-TCGA
BRIP1	Q9BX63	p.Ile983Ser	COSM3520420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61684098A>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ile983Asn	RCV000409964	missense variant	Neoplasm of ovary	NC_000017.11:g.61684098A>T	ClinVar
BRIP1	Q9BX63	p.Ile985Met	RCV000575520	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684091A>C	ClinVar
BRIP1	Q9BX63	p.Ile985Met	rs1555572950	missense variant	-	NC_000017.11:g.61684091A>C	-
BRIP1	Q9BX63	p.Ser986Cys	RCV000697466	missense variant	Familial cancer of breast	NC_000017.11:g.61684089G>C	ClinVar
BRIP1	Q9BX63	p.Ser986Cys	RCV000221048	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684089G>C	ClinVar
BRIP1	Q9BX63	p.Ser986Cys	rs182087528	missense variant	-	NC_000017.11:g.61684089G>C	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Arg987Ser	RCV000709532	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684085T>G	ClinVar
BRIP1	Q9BX63	p.Ser988Phe	RCV000568516	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684083G>A	ClinVar
BRIP1	Q9BX63	p.Ser988Phe	RCV000799177	missense variant	Familial cancer of breast	NC_000017.11:g.61684083G>A	ClinVar
BRIP1	Q9BX63	p.Ser988Phe	rs758032378	missense variant	-	NC_000017.11:g.61684083G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Pro991Ser	RCV000564653	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684075G>A	ClinVar
BRIP1	Q9BX63	p.Pro991Ser	rs1555572936	missense variant	-	NC_000017.11:g.61684075G>A	-
BRIP1	Q9BX63	p.Thr992Ala	rs1276811545	missense variant	-	NC_000017.11:g.61684072T>C	gnomAD
BRIP1	Q9BX63	p.Thr992Ter	RCV000480248	frameshift	-	NC_000017.11:g.61684073del	ClinVar
BRIP1	Q9BX63	p.Thr992Ala	RCV000507744	missense variant	-	NC_000017.11:g.61684072T>C	ClinVar
BRIP1	Q9BX63	p.Phe993Leu	rs1060501756	missense variant	-	NC_000017.11:g.61684067G>C	-
BRIP1	Q9BX63	p.Phe993Leu	RCV000472413	missense variant	Familial cancer of breast	NC_000017.11:g.61684067G>C	ClinVar
BRIP1	Q9BX63	p.Lys995Glu	rs1555572929	missense variant	-	NC_000017.11:g.61684063T>C	-
BRIP1	Q9BX63	p.Lys995Glu	RCV000579932	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684063T>C	ClinVar
BRIP1	Q9BX63	p.Gln996Glu	RCV000773988	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684060G>C	ClinVar
BRIP1	Q9BX63	p.Thr997Ile	rs749978235	missense variant	-	NC_000017.11:g.61684056G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr997Ile	RCV000758995	missense variant	-	NC_000017.11:g.61684056G>A	ClinVar
BRIP1	Q9BX63	p.Thr997Ile	RCV000772635	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684056G>A	ClinVar
BRIP1	Q9BX63	p.Thr997Ile	RCV000636087	missense variant	Familial cancer of breast	NC_000017.11:g.61684056G>A	ClinVar
BRIP1	Q9BX63	p.Thr997Ile	RCV000780050	missense variant	-	NC_000017.11:g.61684056G>A	ClinVar
BRIP1	Q9BX63	p.Lys998Met	RCV000579973	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684053T>A	ClinVar
BRIP1	Q9BX63	p.Lys998Asn	rs757225144	missense variant	-	NC_000017.11:g.61684052C>G	ExAC
BRIP1	Q9BX63	p.Lys998Asn	RCV000544259	missense variant	Familial cancer of breast	NC_000017.11:g.61684052C>G	ClinVar
BRIP1	Q9BX63	p.Lys998Asn	RCV000220971	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684052C>G	ClinVar
BRIP1	Q9BX63	p.Lys998Asn	RCV000217097	missense variant	-	NC_000017.11:g.61684052C>G	ClinVar
BRIP1	Q9BX63	p.Lys998Ter	RCV000458808	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684052_61684055del	ClinVar
BRIP1	Q9BX63	p.Lys998Ter	RCV000167141	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684052_61684055del	ClinVar
BRIP1	Q9BX63	p.Lys998Ter	RCV000663176	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61684052_61684055del	ClinVar
BRIP1	Q9BX63	p.Lys998Arg	RCV000581118	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684053T>C	ClinVar
BRIP1	Q9BX63	p.Lys998Ter	RCV000478533	frameshift	-	NC_000017.11:g.61684052_61684055del	ClinVar
BRIP1	Q9BX63	p.Lys998Arg	rs1555572922	missense variant	-	NC_000017.11:g.61684053T>C	-
BRIP1	Q9BX63	p.Lys998Met	rs1555572922	missense variant	-	NC_000017.11:g.61684053T>A	-
BRIP1	Q9BX63	p.Val1000Ter	RCV000771666	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684046_61684049del	ClinVar
BRIP1	Q9BX63	p.Trp1002Ter	RCV000812231	frameshift	Familial cancer of breast	NC_000017.11:g.61684045_61684046insGTCAAGCT	ClinVar
BRIP1	Q9BX63	p.Trp1002Cys	rs546083449	missense variant	-	NC_000017.11:g.61684040C>A	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Trp1002Ter	RCV000165914	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684045_61684046insGTCAAGCT	ClinVar
BRIP1	Q9BX63	p.Trp1002Ter	RCV000758996	frameshift	-	NC_000017.11:g.61684045_61684046insGTCAAGCT	ClinVar
BRIP1	Q9BX63	p.Trp1002Ter	rs753664225	stop gained	-	NC_000017.11:g.61684041C>T	ExAC
BRIP1	Q9BX63	p.Trp1002Cys	rs546083449	missense variant	-	NC_000017.11:g.61684040C>G	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Trp1002Cys	RCV000215027	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684040C>G	ClinVar
BRIP1	Q9BX63	p.Ser1004Asn	rs766562396	missense variant	-	NC_000017.11:g.61684035C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser1004GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61684036_61684037insGAGGATTGCATAGATACAAAGTTGAATGGAATTC	NCI-TCGA
BRIP1	Q9BX63	p.Ser1007Tyr	RCV000275619	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61684026G>T	ClinVar
BRIP1	Q9BX63	p.Ser1007Tyr	RCV000570242	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684026G>T	ClinVar
BRIP1	Q9BX63	p.Ser1007Tyr	RCV000811266	missense variant	Familial cancer of breast	NC_000017.11:g.61684026G>T	ClinVar
BRIP1	Q9BX63	p.Ser1007Tyr	rs886053214	missense variant	-	NC_000017.11:g.61684026G>T	-
BRIP1	Q9BX63	p.Ser1007Tyr	RCV000333091	missense variant	Neoplasm of the breast	NC_000017.11:g.61684026G>T	ClinVar
BRIP1	Q9BX63	p.Gly1009Glu	rs1555572908	missense variant	-	NC_000017.11:g.61684020C>T	-
BRIP1	Q9BX63	p.Gly1009Glu	RCV000696070	missense variant	Familial cancer of breast	NC_000017.11:g.61684020C>T	ClinVar
BRIP1	Q9BX63	p.Gly1009Arg	RCV000636097	missense variant	Familial cancer of breast	NC_000017.11:g.61684021C>T	ClinVar
BRIP1	Q9BX63	p.Gly1009Arg	rs587781328	missense variant	-	NC_000017.11:g.61684021C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly1009Ter	rs587781328	stop gained	-	NC_000017.11:g.61684021C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly1009Arg	RCV000129073	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684021C>T	ClinVar
BRIP1	Q9BX63	p.Tyr1011His	RCV000689637	missense variant	Familial cancer of breast	NC_000017.11:g.61684015A>G	ClinVar
BRIP1	Q9BX63	p.Thr1013Ile	rs1372474933	missense variant	-	NC_000017.11:g.61684008G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr1013Ala	rs1278002478	missense variant	-	NC_000017.11:g.61684009T>C	TOPMed
BRIP1	Q9BX63	p.Thr1013Ile	RCV000556790	missense variant	Familial cancer of breast	NC_000017.11:g.61684008G>A	ClinVar
BRIP1	Q9BX63	p.Thr1013Ile	RCV000568033	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684008G>A	ClinVar
BRIP1	Q9BX63	p.Thr1013Ala	RCV000693242	missense variant	Familial cancer of breast	NC_000017.11:g.61684009T>C	ClinVar
BRIP1	Q9BX63	p.Thr1013Ala	RCV000569442	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684009T>C	ClinVar
BRIP1	Q9BX63	p.Gly1014Ala	RCV000214950	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61684005C>G	ClinVar
BRIP1	Q9BX63	p.Gly1014Ala	rs876659757	missense variant	-	NC_000017.11:g.61684005C>G	gnomAD
BRIP1	Q9BX63	p.Lys1015Arg	rs1006002613	missense variant	-	NC_000017.11:g.61684002T>C	TOPMed
BRIP1	Q9BX63	p.Lys1015Arg	RCV000636108	missense variant	Familial cancer of breast	NC_000017.11:g.61684002T>C	ClinVar
BRIP1	Q9BX63	p.Lys1015Glu	rs769692303	missense variant	-	NC_000017.11:g.61684003T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Pro1017Leu	RCV000165849	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683996G>A	ClinVar
BRIP1	Q9BX63	p.Pro1017Leu	rs747907706	missense variant	-	NC_000017.11:g.61683996G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala1019Val	rs1555572884	missense variant	-	NC_000017.11:g.61683990G>A	-
BRIP1	Q9BX63	p.Ala1019Val	RCV000572403	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683990G>A	ClinVar
BRIP1	Q9BX63	p.Thr1020Ala	RCV000706762	missense variant	Familial cancer of breast	NC_000017.11:g.61683988T>C	ClinVar
BRIP1	Q9BX63	p.Thr1020Ala	rs1064793073	missense variant	-	NC_000017.11:g.61683988T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr1020Ala	RCV000482641	missense variant	-	NC_000017.11:g.61683988T>C	ClinVar
BRIP1	Q9BX63	p.Thr1020Ala	RCV000569465	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683988T>C	ClinVar
BRIP1	Q9BX63	p.Pro1021Ser	RCV000568293	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683985G>A	ClinVar
BRIP1	Q9BX63	p.Pro1021Ser	rs1555572880	missense variant	-	NC_000017.11:g.61683985G>A	-
BRIP1	Q9BX63	p.Glu1022Gln	RCV000234363	missense variant	Familial cancer of breast	NC_000017.11:g.61683982C>G	ClinVar
BRIP1	Q9BX63	p.Glu1022Lys	RCV000461152	missense variant	Familial cancer of breast	NC_000017.11:g.61683982C>T	ClinVar
BRIP1	Q9BX63	p.Glu1022Lys	rs587782808	missense variant	-	NC_000017.11:g.61683982C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu1022Gln	rs587782808	missense variant	-	NC_000017.11:g.61683982C>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu1023Pro	rs747345595	missense variant	-	NC_000017.11:g.61683978A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly1024Arg	rs147119272	missense variant	-	NC_000017.11:g.61683976C>G	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly1024Arg	RCV000662973	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683976C>T	ClinVar
BRIP1	Q9BX63	p.Gly1024Val	RCV000129948	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683975C>A	ClinVar
BRIP1	Q9BX63	p.Gly1024Val	rs587781744	missense variant	-	NC_000017.11:g.61683975C>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly1024Arg	rs147119272	missense variant	-	NC_000017.11:g.61683976C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly1024Val	RCV000693512	missense variant	Familial cancer of breast	NC_000017.11:g.61683975C>A	ClinVar
BRIP1	Q9BX63	p.Gly1024Arg	RCV000457812	missense variant	Familial cancer of breast	NC_000017.11:g.61683976C>T	ClinVar
BRIP1	Q9BX63	p.Ser1025Ter	RCV000540342	frameshift	Familial cancer of breast	NC_000017.11:g.61683976del	ClinVar
BRIP1	Q9BX63	p.Ser1025Ter	RCV000584109	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683976del	ClinVar
BRIP1	Q9BX63	p.Ser1026Pro	rs756712872	missense variant	-	NC_000017.11:g.61683970A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser1026Pro	RCV000573121	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683970A>G	ClinVar
BRIP1	Q9BX63	p.Glu1027Gly	rs863224804	missense variant	-	NC_000017.11:g.61683966T>C	gnomAD
BRIP1	Q9BX63	p.Glu1027Gly	RCV000772583	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683966T>C	ClinVar
BRIP1	Q9BX63	p.Glu1027Ala	RCV000195734	missense variant	Familial cancer of breast	NC_000017.11:g.61683966T>G	ClinVar
BRIP1	Q9BX63	p.Glu1027Asp	rs777660106	missense variant	-	NC_000017.11:g.61683965C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu1027Lys	rs371185409	missense variant	-	NC_000017.11:g.61683967C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu1027Ala	rs863224804	missense variant	-	NC_000017.11:g.61683966T>G	gnomAD
BRIP1	Q9BX63	p.Glu1027Lys	RCV000460707	missense variant	Familial cancer of breast	NC_000017.11:g.61683967C>T	ClinVar
BRIP1	Q9BX63	p.Asn1028Lys	RCV000636059	missense variant	Familial cancer of breast	NC_000017.11:g.61683962A>C	ClinVar
BRIP1	Q9BX63	p.Asn1028Ile	rs1060501762	missense variant	-	NC_000017.11:g.61683963T>A	TOPMed
BRIP1	Q9BX63	p.Asn1028Ser	rs1060501762	missense variant	-	NC_000017.11:g.61683963T>C	TOPMed
BRIP1	Q9BX63	p.Asn1028Lys	rs1424179519	missense variant	-	NC_000017.11:g.61683962A>C	gnomAD
BRIP1	Q9BX63	p.Asn1028Ser	RCV000458909	missense variant	Familial cancer of breast	NC_000017.11:g.61683963T>C	ClinVar
BRIP1	Q9BX63	p.Asn1028Lys	RCV000565962	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683962A>C	ClinVar
BRIP1	Q9BX63	p.Ser1029Thr	rs755949409	missense variant	-	NC_000017.11:g.61683960C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala1030Val	rs767255426	missense variant	-	NC_000017.11:g.61683957G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala1030Gly	rs767255426	missense variant	-	NC_000017.11:g.61683957G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser1032Arg	RCV000412033	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683950A>C	ClinVar
BRIP1	Q9BX63	p.Ser1032Arg	RCV000520126	missense variant	-	NC_000017.11:g.61683950A>C	ClinVar
BRIP1	Q9BX63	p.Ser1032Arg	rs763162379	missense variant	-	NC_000017.11:g.61683950A>C	ExAC
BRIP1	Q9BX63	p.Ser1032Arg	RCV000164450	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683950A>C	ClinVar
BRIP1	Q9BX63	p.Ser1032Arg	RCV000409520	missense variant	Neoplasm of ovary	NC_000017.11:g.61683950A>C	ClinVar
BRIP1	Q9BX63	p.Ser1032Arg	RCV000636160	missense variant	Familial cancer of breast	NC_000017.11:g.61683950A>C	ClinVar
BRIP1	Q9BX63	p.Pro1033Thr	RCV000217140	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683949G>T	ClinVar
BRIP1	Q9BX63	p.Pro1033Thr	rs876659119	missense variant	-	NC_000017.11:g.61683949G>T	-
BRIP1	Q9BX63	p.Pro1034Thr	rs765416041	missense variant	-	NC_000017.11:g.61683946G>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Pro1034Thr	RCV000775409	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683946G>T	ClinVar
BRIP1	Q9BX63	p.Pro1034Thr	RCV000557006	missense variant	Familial cancer of breast	NC_000017.11:g.61683946G>T	ClinVar
BRIP1	Q9BX63	p.Pro1034Leu	rs1199923024	missense variant	-	NC_000017.11:g.61683945G>A	gnomAD
BRIP1	Q9BX63	p.Pro1034Leu	rs1199923024	missense variant	-	NC_000017.11:g.61683945G>A	UniProt,dbSNP
BRIP1	Q9BX63	p.Pro1034Leu	VAR_020907	missense variant	-	NC_000017.11:g.61683945G>A	UniProt
BRIP1	Q9BX63	p.Arg1035His	rs367816363	missense variant	-	NC_000017.11:g.61683942C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg1035His	RCV000781175	missense variant	-	NC_000017.11:g.61683942C>T	ClinVar
BRIP1	Q9BX63	p.Arg1035His	RCV000116152	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683942C>T	ClinVar
BRIP1	Q9BX63	p.Arg1035His	RCV000662500	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683942C>T	ClinVar
BRIP1	Q9BX63	p.Arg1035Pro	RCV000563928	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683942C>G	ClinVar
BRIP1	Q9BX63	p.Arg1035His	RCV000212333	missense variant	-	NC_000017.11:g.61683942C>T	ClinVar
BRIP1	Q9BX63	p.Arg1035Cys	RCV000196034	missense variant	Familial cancer of breast	NC_000017.11:g.61683943G>A	ClinVar
BRIP1	Q9BX63	p.Arg1035Pro	rs367816363	missense variant	-	NC_000017.11:g.61683942C>G	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg1035Cys	rs45437094	missense variant	-	NC_000017.11:g.61683943G>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Arg1035His	RCV000206801	missense variant	Familial cancer of breast	NC_000017.11:g.61683942C>T	ClinVar
BRIP1	Q9BX63	p.Lys1040Thr	rs1555572833	missense variant	-	NC_000017.11:g.61683927T>G	-
BRIP1	Q9BX63	p.Lys1040Thr	RCV000572731	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683927T>G	ClinVar
BRIP1	Q9BX63	p.Lys1040Gln	RCV000231036	missense variant	Familial cancer of breast	NC_000017.11:g.61683928T>G	ClinVar
BRIP1	Q9BX63	p.Lys1040Gln	RCV000218508	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683928T>G	ClinVar
BRIP1	Q9BX63	p.Lys1040Gln	rs876659428	missense variant	-	NC_000017.11:g.61683928T>G	-
BRIP1	Q9BX63	p.Lys1040AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61683928_61683929TC>-	NCI-TCGA
BRIP1	Q9BX63	p.Met1041Thr	RCV000233906	missense variant	Familial cancer of breast	NC_000017.11:g.61683924A>G	ClinVar
BRIP1	Q9BX63	p.Met1041Val	RCV000564914	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683925T>C	ClinVar
BRIP1	Q9BX63	p.Met1041Thr	rs761225576	missense variant	-	NC_000017.11:g.61683924A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Met1041Val	rs1555572831	missense variant	-	NC_000017.11:g.61683925T>C	-
BRIP1	Q9BX63	p.Glu1042Lys	rs776002434	missense variant	-	NC_000017.11:g.61683922C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu1042Gly	RCV000565160	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683921T>C	ClinVar
BRIP1	Q9BX63	p.Glu1042Gly	rs1555572828	missense variant	-	NC_000017.11:g.61683921T>C	-
BRIP1	Q9BX63	p.Ser1043Asn	RCV000537705	missense variant	Familial cancer of breast	NC_000017.11:g.61683918C>T	ClinVar
BRIP1	Q9BX63	p.Ser1043Asn	rs1555572825	missense variant	-	NC_000017.11:g.61683918C>T	-
BRIP1	Q9BX63	p.Ser1043Gly	rs1344938745	missense variant	-	NC_000017.11:g.61683919T>C	TOPMed
BRIP1	Q9BX63	p.Val1046Ile	RCV000550332	missense variant	Familial cancer of breast	NC_000017.11:g.61683910C>T	ClinVar
BRIP1	Q9BX63	p.Val1046Ile	RCV000563297	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683910C>T	ClinVar
BRIP1	Q9BX63	p.Val1046Ile	rs1555572824	missense variant	-	NC_000017.11:g.61683910C>T	-
BRIP1	Q9BX63	p.Leu1047Ser	RCV000636185	missense variant	Familial cancer of breast	NC_000017.11:g.61683906A>G	ClinVar
BRIP1	Q9BX63	p.Leu1047Ser	RCV000166612	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683906A>G	ClinVar
BRIP1	Q9BX63	p.Leu1047Ser	rs786203344	missense variant	-	NC_000017.11:g.61683906A>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Phe1049Leu	rs772507914	missense variant	-	NC_000017.11:g.61683901A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr1050Ala	RCV000776363	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683898T>C	ClinVar
BRIP1	Q9BX63	p.Thr1050Asn	RCV000129015	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683897G>T	ClinVar
BRIP1	Q9BX63	p.Thr1050Asn	rs373040333	missense variant	-	NC_000017.11:g.61683897G>T	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Thr1050Pro	RCV000709531	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683898T>G	ClinVar
BRIP1	Q9BX63	p.Asp1051Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683895C>T	NCI-TCGA
BRIP1	Q9BX63	p.Lys1052Glu	rs1285783476	missense variant	-	NC_000017.11:g.61683892T>C	TOPMed
BRIP1	Q9BX63	p.Ser1055Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683882G>A	NCI-TCGA
BRIP1	Q9BX63	p.Ser1056Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61683879G>C	NCI-TCGA
BRIP1	Q9BX63	p.Leu1058Ter	RCV000572464	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683867_61683873delinsGAG	ClinVar
BRIP1	Q9BX63	p.Thr1059Arg	rs1400975728	missense variant	-	NC_000017.11:g.61683870G>C	gnomAD
BRIP1	Q9BX63	p.Thr1059Ile	rs1400975728	missense variant	-	NC_000017.11:g.61683870G>A	gnomAD
BRIP1	Q9BX63	p.Thr1059Ile	RCV000564229	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683870G>A	ClinVar
BRIP1	Q9BX63	p.Val1060Ile	RCV000534521	missense variant	Familial cancer of breast	NC_000017.11:g.61683868C>T	ClinVar
BRIP1	Q9BX63	p.Val1060Ile	rs149016505	missense variant	-	NC_000017.11:g.61683868C>T	ESP,gnomAD
BRIP1	Q9BX63	p.Val1060Ile	RCV000568104	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683868C>T	ClinVar
BRIP1	Q9BX63	p.Val1060Ile	RCV000709530	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683868C>T	ClinVar
BRIP1	Q9BX63	p.Asn1061His	rs778430337	missense variant	-	NC_000017.11:g.61683865T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Asn1061Asp	rs778430337	missense variant	-	NC_000017.11:g.61683865T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Asn1061Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683864T>C	NCI-TCGA
BRIP1	Q9BX63	p.Thr1062Ile	rs770517912	missense variant	-	NC_000017.11:g.61683861G>A	ExAC
BRIP1	Q9BX63	p.Thr1062Ile	RCV000575730	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683861G>A	ClinVar
BRIP1	Q9BX63	p.Thr1062IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61683860_61683861TG>-	NCI-TCGA
BRIP1	Q9BX63	p.Ser1063Leu	RCV000216254	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683858G>A	ClinVar
BRIP1	Q9BX63	p.Ser1063Leu	RCV000813309	missense variant	Familial cancer of breast	NC_000017.11:g.61683858G>A	ClinVar
BRIP1	Q9BX63	p.Ser1063Leu	rs575998972	missense variant	-	NC_000017.11:g.61683858G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser1063Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683858G>C	NCI-TCGA
BRIP1	Q9BX63	p.Ser1063Leu	RCV000780052	missense variant	-	NC_000017.11:g.61683858G>A	ClinVar
BRIP1	Q9BX63	p.Phe1064Ser	RCV000709529	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683855A>G	ClinVar
BRIP1	Q9BX63	p.Phe1064Ser	RCV000475646	missense variant	Familial cancer of breast	NC_000017.11:g.61683855A>G	ClinVar
BRIP1	Q9BX63	p.Phe1064Ser	rs916937983	missense variant	-	NC_000017.11:g.61683855A>G	TOPMed
BRIP1	Q9BX63	p.Phe1064Ser	RCV000573965	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683855A>G	ClinVar
BRIP1	Q9BX63	p.Gly1065Arg	rs1490736110	missense variant	-	NC_000017.11:g.61683853C>T	TOPMed
BRIP1	Q9BX63	p.Ser1066Ter	RCV000460746	frameshift	Familial cancer of breast	NC_000017.11:g.61683850del	ClinVar
BRIP1	Q9BX63	p.Ser1066Ter	RCV000576714	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683850del	ClinVar
BRIP1	Q9BX63	p.Ser1066Ter	RCV000590317	frameshift	-	NC_000017.11:g.61683850del	ClinVar
BRIP1	Q9BX63	p.Ser1066Ter	RCV000220516	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683850del	ClinVar
BRIP1	Q9BX63	p.Ser1066Pro	rs1199327421	missense variant	-	NC_000017.11:g.61683850A>G	TOPMed
BRIP1	Q9BX63	p.Cys1067Ser	RCV000231423	missense variant	Familial cancer of breast	NC_000017.11:g.61683847A>T	ClinVar
BRIP1	Q9BX63	p.Cys1067Ser	rs878855153	missense variant	-	NC_000017.11:g.61683847A>T	gnomAD
BRIP1	Q9BX63	p.Ser1070Ter	rs777213170	stop gained	-	NC_000017.11:g.61683837G>T	ExAC
BRIP1	Q9BX63	p.Ser1070Ter	RCV000552971	frameshift	Familial cancer of breast	NC_000017.11:g.61683838del	ClinVar
BRIP1	Q9BX63	p.Ser1070Ter	RCV000459986	nonsense	Familial cancer of breast	NC_000017.11:g.61683837G>T	ClinVar
BRIP1	Q9BX63	p.Ser1070Leu	rs777213170	missense variant	-	NC_000017.11:g.61683837G>A	ExAC
BRIP1	Q9BX63	p.Glu1071Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683833T>A	NCI-TCGA
BRIP1	Q9BX63	p.Thr1072Ala	rs756074244	missense variant	-	NC_000017.11:g.61683832T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr1072Ala	RCV000775408	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683832T>C	ClinVar
BRIP1	Q9BX63	p.Thr1072Asn	rs786204068	missense variant	-	NC_000017.11:g.61683831G>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr1072Asn	RCV000167953	missense variant	Familial cancer of breast	NC_000017.11:g.61683831G>T	ClinVar
BRIP1	Q9BX63	p.Thr1072Asn	RCV000587674	missense variant	-	NC_000017.11:g.61683831G>T	ClinVar
BRIP1	Q9BX63	p.Thr1072Ile	rs786204068	missense variant	-	NC_000017.11:g.61683831G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile1074Thr	rs1219988835	missense variant	-	NC_000017.11:g.61683825A>G	gnomAD
BRIP1	Q9BX63	p.Ser1075Leu	rs183928474	missense variant	-	NC_000017.11:g.61683822G>A	1000Genomes,ExAC,TOPMed
BRIP1	Q9BX63	p.Ser1075Leu	RCV000662888	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683822G>A	ClinVar
BRIP1	Q9BX63	p.Ser1075Thr	rs368867532	missense variant	-	NC_000017.11:g.61683823A>T	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Ser1075Leu	RCV000458321	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683822G>A	ClinVar
BRIP1	Q9BX63	p.Ser1075Thr	RCV000573382	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683823A>T	ClinVar
BRIP1	Q9BX63	p.Ser1075Leu	RCV000254825	missense variant	-	NC_000017.11:g.61683822G>A	ClinVar
BRIP1	Q9BX63	p.Ser1075Leu	RCV000220966	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683822G>A	ClinVar
BRIP1	Q9BX63	p.Ser1076Leu	rs864622113	missense variant	-	NC_000017.11:g.61683819G>A	-
BRIP1	Q9BX63	p.Ser1076Leu	RCV000775407	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683819G>A	ClinVar
BRIP1	Q9BX63	p.Ser1076Leu	RCV000204843	missense variant	Familial cancer of breast	NC_000017.11:g.61683819G>A	ClinVar
BRIP1	Q9BX63	p.Leu1077Ter	rs1420431000	stop gained	-	NC_000017.11:g.61683816A>C	TOPMed
BRIP1	Q9BX63	p.Leu1077Ter	RCV000776642	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683816A>C	ClinVar
BRIP1	Q9BX63	p.Lys1078Ter	RCV000165998	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683814T>A	ClinVar
BRIP1	Q9BX63	p.Lys1078Asn	rs570238270	missense variant	-	NC_000017.11:g.61683812C>A	1000Genomes,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Lys1078Ter	rs786202927	stop gained	-	NC_000017.11:g.61683814T>A	-
BRIP1	Q9BX63	p.Lys1078Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683814T>C	NCI-TCGA
BRIP1	Q9BX63	p.Ile1079Thr	RCV000116154	missense variant	-	NC_000017.11:g.61683810A>G	ClinVar
BRIP1	Q9BX63	p.Ile1079Thr	RCV000663136	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683810A>G	ClinVar
BRIP1	Q9BX63	p.Ile1079Met	RCV000780068	missense variant	-	NC_000017.11:g.61683809A>C	ClinVar
BRIP1	Q9BX63	p.Ile1079Met	RCV000129821	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683809A>C	ClinVar
BRIP1	Q9BX63	p.Ile1079Met	RCV000200144	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683809A>C	ClinVar
BRIP1	Q9BX63	p.Ile1079Thr	rs150813402	missense variant	-	NC_000017.11:g.61683810A>G	1000Genomes,ExAC,gnomAD
BRIP1	Q9BX63	p.Ile1079Thr	RCV000204707	missense variant	Familial cancer of breast	NC_000017.11:g.61683810A>G	ClinVar
BRIP1	Q9BX63	p.Ile1079Thr	RCV000780057	missense variant	-	NC_000017.11:g.61683810A>G	ClinVar
BRIP1	Q9BX63	p.Ile1079Thr	RCV000218787	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683810A>G	ClinVar
BRIP1	Q9BX63	p.Ile1079Met	rs587781666	missense variant	-	NC_000017.11:g.61683809A>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile1079Met	RCV000758998	missense variant	-	NC_000017.11:g.61683809A>C	ClinVar
BRIP1	Q9BX63	p.Ile1079Met	RCV000662741	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683809A>C	ClinVar
BRIP1	Q9BX63	p.Asp1080Asn	RCV000168373	missense variant	Familial cancer of breast	NC_000017.11:g.61683808C>T	ClinVar
BRIP1	Q9BX63	p.Asp1080Asn	rs786204230	missense variant	-	NC_000017.11:g.61683808C>T	gnomAD
BRIP1	Q9BX63	p.Ala1081Val	rs1555572749	missense variant	-	NC_000017.11:g.61683804G>A	-
BRIP1	Q9BX63	p.Ala1081Ter	RCV000657450	frameshift	-	NC_000017.11:g.61683806dup	ClinVar
BRIP1	Q9BX63	p.Ala1081Ter	RCV000398289	frameshift	BRIP1-Related Disorders	NC_000017.11:g.61683806dup	ClinVar
BRIP1	Q9BX63	p.Ala1081Ter	RCV000579524	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683806dup	ClinVar
BRIP1	Q9BX63	p.Ala1081Ter	RCV000576538	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683806dup	ClinVar
BRIP1	Q9BX63	p.Ala1081Val	RCV000589375	missense variant	-	NC_000017.11:g.61683804G>A	ClinVar
BRIP1	Q9BX63	p.Ala1081Thr	RCV000772531	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683805C>T	ClinVar
BRIP1	Q9BX63	p.Leu1083Val	RCV000773391	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683799G>C	ClinVar
BRIP1	Q9BX63	p.Thr1084Ile	rs876660768	missense variant	-	NC_000017.11:g.61683795G>A	-
BRIP1	Q9BX63	p.Thr1084Ser	rs876660768	missense variant	-	NC_000017.11:g.61683795G>C	-
BRIP1	Q9BX63	p.Thr1084Ser	RCV000775231	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683795G>C	ClinVar
BRIP1	Q9BX63	p.Thr1084Ile	RCV000215579	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683795G>A	ClinVar
BRIP1	Q9BX63	p.Thr1084Ser	RCV000364269	missense variant	Fanconi anemia (FA)	NC_000017.11:g.61683795G>C	ClinVar
BRIP1	Q9BX63	p.Thr1084Ser	RCV000306335	missense variant	Neoplasm of the breast	NC_000017.11:g.61683795G>C	ClinVar
BRIP1	Q9BX63	p.Arg1085Thr	RCV000697882	missense variant	Familial cancer of breast	NC_000017.11:g.61683792C>G	ClinVar
BRIP1	Q9BX63	p.Lys1086Asn	COSM1589091	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683788T>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asn1087Ter	RCV000219598	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683791dup	ClinVar
BRIP1	Q9BX63	p.Asn1087Lys	RCV000777508	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683785A>C	ClinVar
BRIP1	Q9BX63	p.Asn1087Ter	RCV000709528	frameshift	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683791dup	ClinVar
BRIP1	Q9BX63	p.Asn1087Asp	rs1430023275	missense variant	-	NC_000017.11:g.61683787T>C	gnomAD
BRIP1	Q9BX63	p.Asn1087Ser	RCV000164623	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683786T>C	ClinVar
BRIP1	Q9BX63	p.Asn1087Ser	RCV000551876	missense variant	Familial cancer of breast	NC_000017.11:g.61683786T>C	ClinVar
BRIP1	Q9BX63	p.Asn1087Ser	rs786202024	missense variant	-	NC_000017.11:g.61683786T>C	TOPMed
BRIP1	Q9BX63	p.Asn1087Asp	RCV000773520	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683787T>C	ClinVar
BRIP1	Q9BX63	p.His1088Tyr	rs878855154	missense variant	-	NC_000017.11:g.61683784G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.His1088Tyr	RCV000564840	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683784G>A	ClinVar
BRIP1	Q9BX63	p.His1088Tyr	RCV000228140	missense variant	Familial cancer of breast	NC_000017.11:g.61683784G>A	ClinVar
BRIP1	Q9BX63	p.Ser1089Cys	RCV000568092	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683780G>C	ClinVar
BRIP1	Q9BX63	p.Ser1089Ala	rs764205156	missense variant	-	NC_000017.11:g.61683781A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser1089Cys	rs761278503	missense variant	-	NC_000017.11:g.61683780G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ser1089Cys	RCV000205242	missense variant	Familial cancer of breast	NC_000017.11:g.61683780G>C	ClinVar
BRIP1	Q9BX63	p.Ser1089Ala	RCV000569744	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683781A>C	ClinVar
BRIP1	Q9BX63	p.Ser1089Phe	RCV000471184	missense variant	Familial cancer of breast	NC_000017.11:g.61683780G>A	ClinVar
BRIP1	Q9BX63	p.Ser1089Phe	rs761278503	missense variant	-	NC_000017.11:g.61683780G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.His1091Tyr	rs1555572732	missense variant	-	NC_000017.11:g.61683775G>A	-
BRIP1	Q9BX63	p.His1091Arg	RCV000540633	missense variant	Familial cancer of breast	NC_000017.11:g.61683774T>C	ClinVar
BRIP1	Q9BX63	p.His1091Tyr	RCV000580917	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683775G>A	ClinVar
BRIP1	Q9BX63	p.His1091Gln	rs1281827397	missense variant	-	NC_000017.11:g.61683773A>C	TOPMed
BRIP1	Q9BX63	p.His1091Arg	rs776129117	missense variant	-	NC_000017.11:g.61683774T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Pro1092Ser	RCV000563698	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683772G>A	ClinVar
BRIP1	Q9BX63	p.Pro1092Ser	RCV000473819	missense variant	Familial cancer of breast	NC_000017.11:g.61683772G>A	ClinVar
BRIP1	Q9BX63	p.Pro1092Gln	RCV000636141	missense variant	Familial cancer of breast	NC_000017.11:g.61683771G>T	ClinVar
BRIP1	Q9BX63	p.Pro1092Gln	RCV000709527	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683771G>T	ClinVar
BRIP1	Q9BX63	p.Pro1092Leu	RCV000442394	missense variant	-	NC_000017.11:g.61683771G>A	ClinVar
BRIP1	Q9BX63	p.Pro1092Ser	rs768065626	missense variant	-	NC_000017.11:g.61683772G>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro1092Gln	rs587780830	missense variant	-	NC_000017.11:g.61683771G>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro1092Leu	rs587780830	missense variant	-	NC_000017.11:g.61683771G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Pro1092Gln	RCV000581888	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683771G>T	ClinVar
BRIP1	Q9BX63	p.Leu1093Phe	rs876660638	missense variant	-	NC_000017.11:g.61683769G>A	-
BRIP1	Q9BX63	p.Leu1093Phe	RCV000217837	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683769G>A	ClinVar
BRIP1	Q9BX63	p.Ser1095Cys	rs1479296707	missense variant	-	NC_000017.11:g.61683762G>C	gnomAD
BRIP1	Q9BX63	p.Glu1097Gly	RCV000232395	missense variant	Familial cancer of breast	NC_000017.11:g.61683756T>C	ClinVar
BRIP1	Q9BX63	p.Glu1097Ala	RCV000701514	missense variant	Familial cancer of breast	NC_000017.11:g.61683756T>G	ClinVar
BRIP1	Q9BX63	p.Glu1097Gly	RCV000584629	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683756T>C	ClinVar
BRIP1	Q9BX63	p.Glu1097Ala	RCV000590421	missense variant	-	NC_000017.11:g.61683756T>G	ClinVar
BRIP1	Q9BX63	p.Glu1097Ala	RCV000220039	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683756T>G	ClinVar
BRIP1	Q9BX63	p.Glu1097Gln	rs770509300	missense variant	-	NC_000017.11:g.61683757C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu1097Gly	rs876658746	missense variant	-	NC_000017.11:g.61683756T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu1097Ala	rs876658746	missense variant	-	NC_000017.11:g.61683756T>G	TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu1097Ter	COSM1589092	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61683757C>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Ala1098Asp	rs1361161166	missense variant	-	NC_000017.11:g.61683753G>T	TOPMed
BRIP1	Q9BX63	p.Ala1098Ter	RCV000657405	frameshift	-	NC_000017.11:g.61683744_61683754delinsCTGGATCCAGAGACAA	ClinVar
BRIP1	Q9BX63	p.Leu1099Arg	RCV000477468	missense variant	Familial cancer of breast	NC_000017.11:g.61683750A>C	ClinVar
BRIP1	Q9BX63	p.Leu1099Arg	RCV000165832	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683750A>C	ClinVar
BRIP1	Q9BX63	p.Leu1099Arg	RCV000506104	missense variant	-	NC_000017.11:g.61683750A>C	ClinVar
BRIP1	Q9BX63	p.Leu1099Arg	rs772709195	missense variant	-	NC_000017.11:g.61683750A>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1100Val	rs864622072	missense variant	-	NC_000017.11:g.61683747T>A	-
BRIP1	Q9BX63	p.Asp1100Val	RCV000203867	missense variant	Familial cancer of breast	NC_000017.11:g.61683747T>A	ClinVar
BRIP1	Q9BX63	p.Asp1100Asn	RCV000546539	missense variant	Familial cancer of breast	NC_000017.11:g.61683748C>T	ClinVar
BRIP1	Q9BX63	p.Asp1100Asn	rs587781923	missense variant	-	NC_000017.11:g.61683748C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp1100Asn	RCV000130274	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683748C>T	ClinVar
BRIP1	Q9BX63	p.Asp1100Asn	RCV000709526	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683748C>T	ClinVar
BRIP1	Q9BX63	p.Pro1101Leu	COSM3520418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683744G>A	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asp1102Gly	RCV000554552	missense variant	Familial cancer of breast	NC_000017.11:g.61683741T>C	ClinVar
BRIP1	Q9BX63	p.Asp1102Asn	rs1350551922	missense variant	-	NC_000017.11:g.61683742C>T	gnomAD
BRIP1	Q9BX63	p.Asp1102Gly	rs748140041	missense variant	-	NC_000017.11:g.61683741T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp1102Asn	RCV000567090	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683742C>T	ClinVar
BRIP1	Q9BX63	p.Ile1103Asn	rs781102464	missense variant	-	NC_000017.11:g.61683738A>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile1103Asn	RCV000573765	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683738A>T	ClinVar
BRIP1	Q9BX63	p.Ile1103Val	RCV000636088	missense variant	Familial cancer of breast	NC_000017.11:g.61683739T>C	ClinVar
BRIP1	Q9BX63	p.Ile1103Asn	RCV000463699	missense variant	Familial cancer of breast	NC_000017.11:g.61683738A>T	ClinVar
BRIP1	Q9BX63	p.Ile1103Thr	rs781102464	missense variant	-	NC_000017.11:g.61683738A>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile1103Val	rs1555572700	missense variant	-	NC_000017.11:g.61683739T>C	-
BRIP1	Q9BX63	p.Glu1104Ter	RCV000636150	nonsense	Familial cancer of breast	NC_000017.11:g.61683736C>A	ClinVar
BRIP1	Q9BX63	p.Glu1104Asp	rs1555572697	missense variant	-	NC_000017.11:g.61683734T>A	-
BRIP1	Q9BX63	p.Glu1104Ter	rs1555572698	stop gained	-	NC_000017.11:g.61683736C>A	-
BRIP1	Q9BX63	p.Glu1104Asp	RCV000584290	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683734T>A	ClinVar
BRIP1	Q9BX63	p.Glu1104Val	RCV000772523	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683735T>A	ClinVar
BRIP1	Q9BX63	p.Val1108Ile	rs1275343223	missense variant	-	NC_000017.11:g.61683724C>T	gnomAD
BRIP1	Q9BX63	p.Val1108Ile	RCV000700540	missense variant	Familial cancer of breast	NC_000017.11:g.61683724C>T	ClinVar
BRIP1	Q9BX63	p.Glu1110Ter	rs1060501774	stop gained	-	NC_000017.11:g.61683718C>A	-
BRIP1	Q9BX63	p.Glu1110Gly	rs1060501742	missense variant	-	NC_000017.11:g.61683717T>C	-
BRIP1	Q9BX63	p.Glu1110Gly	RCV000469052	missense variant	Familial cancer of breast	NC_000017.11:g.61683717T>C	ClinVar
BRIP1	Q9BX63	p.Glu1110Ter	RCV000775737	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683718C>A	ClinVar
BRIP1	Q9BX63	p.Glu1111Gln	RCV000409119	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683715C>G	ClinVar
BRIP1	Q9BX63	p.Glu1111Gln	RCV000204181	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683715C>G	ClinVar
BRIP1	Q9BX63	p.Glu1111Gln	rs587780248	missense variant	-	NC_000017.11:g.61683715C>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu1111Gln	RCV000214821	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683715C>G	ClinVar
BRIP1	Q9BX63	p.Glu1111Gln	RCV000116155	missense variant	-	NC_000017.11:g.61683715C>G	ClinVar
BRIP1	Q9BX63	p.Glu1111Gln	RCV000410336	missense variant	Neoplasm of ovary	NC_000017.11:g.61683715C>G	ClinVar
BRIP1	Q9BX63	p.Asp1112Asn	rs968860042	missense variant	-	NC_000017.11:g.61683712C>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1112Asn	RCV000475399	missense variant	Familial cancer of breast	NC_000017.11:g.61683712C>T	ClinVar
BRIP1	Q9BX63	p.Asp1112Tyr	RCV000636089	missense variant	Familial cancer of breast	NC_000017.11:g.61683712C>A	ClinVar
BRIP1	Q9BX63	p.Asp1112Glu	RCV000477261	missense variant	Familial cancer of breast	NC_000017.11:g.61683710A>T	ClinVar
BRIP1	Q9BX63	p.Asp1112Glu	RCV000221951	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683710A>T	ClinVar
BRIP1	Q9BX63	p.Asp1112Tyr	rs968860042	missense variant	-	NC_000017.11:g.61683712C>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1112Glu	rs369843642	missense variant	-	NC_000017.11:g.61683710A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1112His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683712C>G	NCI-TCGA
BRIP1	Q9BX63	p.Asp1112Tyr	RCV000565197	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683712C>A	ClinVar
BRIP1	Q9BX63	p.Lys1113Glu	COSM4790378	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683709T>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Gln1114Ter	rs1555572681	stop gained	-	NC_000017.11:g.61683706G>A	-
BRIP1	Q9BX63	p.Gln1114Ter	RCV000657729	nonsense	-	NC_000017.11:g.61683706G>A	ClinVar
BRIP1	Q9BX63	p.Ser1115Phe	rs1419933310	missense variant	-	NC_000017.11:g.61683702G>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser1115Tyr	rs1419933310	missense variant	-	NC_000017.11:g.61683702G>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser1115Cys	rs1419933310	missense variant	-	NC_000017.11:g.61683702G>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser1115Cys	RCV000562325	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683702G>C	ClinVar
BRIP1	Q9BX63	p.Ser1115Phe	RCV000530731	missense variant	Familial cancer of breast	NC_000017.11:g.61683702G>A	ClinVar
BRIP1	Q9BX63	p.Ser1115Pro	RCV000688353	missense variant	Familial cancer of breast	NC_000017.11:g.61683703A>G	ClinVar
BRIP1	Q9BX63	p.Ser1115Cys	RCV000636178	missense variant	Familial cancer of breast	NC_000017.11:g.61683702G>C	ClinVar
BRIP1	Q9BX63	p.Ser1117Leu	RCV000574108	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683696G>A	ClinVar
BRIP1	Q9BX63	p.Ser1117Leu	RCV000702483	missense variant	Familial cancer of breast	NC_000017.11:g.61683696G>A	ClinVar
BRIP1	Q9BX63	p.Ser1117Ala	RCV000546751	missense variant	Familial cancer of breast	NC_000017.11:g.61683697A>C	ClinVar
BRIP1	Q9BX63	p.Ser1117Ala	RCV000164569	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683697A>C	ClinVar
BRIP1	Q9BX63	p.Ser1117Leu	rs1555572672	missense variant	-	NC_000017.11:g.61683696G>A	-
BRIP1	Q9BX63	p.Ser1117Ala	rs779860140	missense variant	-	NC_000017.11:g.61683697A>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ser1117Ter	COSM291253	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.61683696G>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asn1118Ser	rs1060501773	missense variant	-	NC_000017.11:g.61683693T>C	-
BRIP1	Q9BX63	p.Asn1118Ser	RCV000466152	missense variant	Familial cancer of breast	NC_000017.11:g.61683693T>C	ClinVar
BRIP1	Q9BX63	p.Asp1120Asn	RCV000636098	missense variant	Familial cancer of breast	NC_000017.11:g.61683688C>T	ClinVar
BRIP1	Q9BX63	p.Asp1120Asn	rs1555572663	missense variant	-	NC_000017.11:g.61683688C>T	-
BRIP1	Q9BX63	p.Asp1120Ala	COSM1589094	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683687T>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Thr1123Ala	RCV000679784	missense variant	-	NC_000017.11:g.61683679T>C	ClinVar
BRIP1	Q9BX63	p.Thr1123Ala	RCV000478257	missense variant	-	NC_000017.11:g.61683679T>C	ClinVar
BRIP1	Q9BX63	p.Thr1123Ala	RCV000811671	missense variant	Familial cancer of breast	NC_000017.11:g.61683679T>C	ClinVar
BRIP1	Q9BX63	p.Thr1123Ala	rs754056526	missense variant	-	NC_000017.11:g.61683679T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu1124Gly	rs1064793894	missense variant	-	NC_000017.11:g.61683675T>C	-
BRIP1	Q9BX63	p.Glu1124Gly	RCV000570953	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683675T>C	ClinVar
BRIP1	Q9BX63	p.Glu1124Gly	RCV000701214	missense variant	Familial cancer of breast	NC_000017.11:g.61683675T>C	ClinVar
BRIP1	Q9BX63	p.Glu1124Gly	RCV000484914	missense variant	-	NC_000017.11:g.61683675T>C	ClinVar
BRIP1	Q9BX63	p.Glu1124Ter	RCV000774184	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683676_61683677del	ClinVar
BRIP1	Q9BX63	p.Ala1125Gly	RCV000485098	missense variant	-	NC_000017.11:g.61683672G>C	ClinVar
BRIP1	Q9BX63	p.Ala1125Gly	rs1064796566	missense variant	-	NC_000017.11:g.61683672G>C	-
BRIP1	Q9BX63	p.Glu1126Asp	rs145855459	missense variant	-	NC_000017.11:g.61683668T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu1126Asp	RCV000116156	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683668T>G	ClinVar
BRIP1	Q9BX63	p.Glu1126LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.61683670C>-	NCI-TCGA
BRIP1	Q9BX63	p.Glu1128Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61683664C>A	NCI-TCGA
BRIP1	Q9BX63	p.Ser1129Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683660G>C	NCI-TCGA
BRIP1	Q9BX63	p.Ser1129Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683660G>T	NCI-TCGA
BRIP1	Q9BX63	p.Ile1130Thr	rs1057522432	missense variant	-	NC_000017.11:g.61683657A>G	-
BRIP1	Q9BX63	p.Ile1130Thr	RCV000775924	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683657A>G	ClinVar
BRIP1	Q9BX63	p.Ile1130Thr	RCV000820751	missense variant	Familial cancer of breast	NC_000017.11:g.61683657A>G	ClinVar
BRIP1	Q9BX63	p.Ile1130Val	RCV000569557	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683658T>C	ClinVar
BRIP1	Q9BX63	p.Ile1130Val	RCV000559311	missense variant	Familial cancer of breast	NC_000017.11:g.61683658T>C	ClinVar
BRIP1	Q9BX63	p.Ile1130Phe	RCV000165410	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683658T>A	ClinVar
BRIP1	Q9BX63	p.Ile1130Val	rs786202549	missense variant	-	NC_000017.11:g.61683658T>C	TOPMed
BRIP1	Q9BX63	p.Ile1130Phe	rs786202549	missense variant	-	NC_000017.11:g.61683658T>A	TOPMed
BRIP1	Q9BX63	p.Ile1130Thr	RCV000441972	missense variant	-	NC_000017.11:g.61683657A>G	ClinVar
BRIP1	Q9BX63	p.Thr1133Ile	rs1555572645	missense variant	-	NC_000017.11:g.61683648G>A	-
BRIP1	Q9BX63	p.Thr1133Ile	RCV000560658	missense variant	Familial cancer of breast	NC_000017.11:g.61683648G>A	ClinVar
BRIP1	Q9BX63	p.Pro1134Ter	RCV000732737	frameshift	-	NC_000017.11:g.61683646del	ClinVar
BRIP1	Q9BX63	p.Pro1134Ter	RCV000772027	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683646del	ClinVar
BRIP1	Q9BX63	p.Pro1134Ter	RCV000205001	frameshift	Familial cancer of breast	NC_000017.11:g.61683646del	ClinVar
BRIP1	Q9BX63	p.Glu1135Lys	rs369340444	missense variant	-	NC_000017.11:g.61683643C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu1135Gln	RCV000581029	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683643C>G	ClinVar
BRIP1	Q9BX63	p.Glu1135Gly	rs1235908208	missense variant	-	NC_000017.11:g.61683642T>C	gnomAD
BRIP1	Q9BX63	p.Glu1135Gln	rs369340444	missense variant	-	NC_000017.11:g.61683643C>G	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu1136Phe	RCV000579866	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683640G>A	ClinVar
BRIP1	Q9BX63	p.Leu1136Ter	RCV000213148	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683627_61683636del	ClinVar
BRIP1	Q9BX63	p.Leu1136Phe	RCV000636184	missense variant	Familial cancer of breast	NC_000017.11:g.61683640G>A	ClinVar
BRIP1	Q9BX63	p.Leu1136Phe	rs1555572626	missense variant	-	NC_000017.11:g.61683640G>A	-
BRIP1	Q9BX63	p.Asp1138Tyr	rs587780249	missense variant	-	NC_000017.11:g.61683634C>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1138Asn	rs587780249	missense variant	-	NC_000017.11:g.61683634C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1138Gly	rs1057518847	missense variant	-	NC_000017.11:g.61683633T>C	-
BRIP1	Q9BX63	p.Asp1138Val	RCV000580458	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683633T>A	ClinVar
BRIP1	Q9BX63	p.Asp1138Tyr	RCV000691968	missense variant	Familial cancer of breast	NC_000017.11:g.61683634_61683635delinsAG	ClinVar
BRIP1	Q9BX63	p.Asp1138Asn	RCV000459206	missense variant	Familial cancer of breast	NC_000017.11:g.61683634C>T	ClinVar
BRIP1	Q9BX63	p.Asp1138Asn	RCV000587926	missense variant	-	NC_000017.11:g.61683634C>T	ClinVar
BRIP1	Q9BX63	p.Asp1138Tyr	RCV000212335	missense variant	-	NC_000017.11:g.61683634C>A	ClinVar
BRIP1	Q9BX63	p.Asp1138Val	rs1057518847	missense variant	-	NC_000017.11:g.61683633T>A	-
BRIP1	Q9BX63	p.Asp1138Asn	RCV000709525	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683634C>T	ClinVar
BRIP1	Q9BX63	p.Asp1138Tyr	RCV000116157	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683634C>A	ClinVar
BRIP1	Q9BX63	p.Asp1138Gly	RCV000414896	missense variant	Hereditary cancer	NC_000017.11:g.61683633T>C	ClinVar
BRIP1	Q9BX63	p.Asp1138Gly	RCV000814484	missense variant	Familial cancer of breast	NC_000017.11:g.61683633T>C	ClinVar
BRIP1	Q9BX63	p.Asp1138Asn	RCV000586252	missense variant	-	NC_000017.11:g.61683634_61683635inv	ClinVar
BRIP1	Q9BX63	p.Asp1138Asn	RCV000583646	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683634_61683635inv	ClinVar
BRIP1	Q9BX63	p.Asp1138His	RCV000536947	missense variant	Familial cancer of breast	NC_000017.11:g.61683634_61683635delinsGG	ClinVar
BRIP1	Q9BX63	p.Asp1138Asn	RCV000223506	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683634C>T	ClinVar
BRIP1	Q9BX63	p.Pro1139Leu	RCV000584427	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683630G>A	ClinVar
BRIP1	Q9BX63	p.Pro1139Thr	rs1186451404	missense variant	-	NC_000017.11:g.61683631G>T	gnomAD
BRIP1	Q9BX63	p.Pro1139Leu	RCV000801887	missense variant	Familial cancer of breast	NC_000017.11:g.61683630G>A	ClinVar
BRIP1	Q9BX63	p.Pro1139Leu	rs1555572613	missense variant	-	NC_000017.11:g.61683630G>A	-
BRIP1	Q9BX63	p.Asp1141Val	rs1034551306	missense variant	-	NC_000017.11:g.61683624T>A	TOPMed
BRIP1	Q9BX63	p.Asp1141Ala	rs1034551306	missense variant	-	NC_000017.11:g.61683624T>G	TOPMed
BRIP1	Q9BX63	p.Asp1141Val	RCV000524593	missense variant	Familial cancer of breast	NC_000017.11:g.61683624T>A	ClinVar
BRIP1	Q9BX63	p.Thr1142Lys	rs1279318199	missense variant	-	NC_000017.11:g.61683621G>T	gnomAD
BRIP1	Q9BX63	p.Thr1142Arg	rs1279318199	missense variant	-	NC_000017.11:g.61683621G>C	gnomAD
BRIP1	Q9BX63	p.Asp1143Asn	rs1217932471	missense variant	-	NC_000017.11:g.61683619C>T	gnomAD
BRIP1	Q9BX63	p.Asp1143Glu	rs1315917374	missense variant	-	NC_000017.11:g.61683617A>T	gnomAD
BRIP1	Q9BX63	p.Glu1144Lys	rs1279870189	missense variant	-	NC_000017.11:g.61683616C>T	gnomAD
BRIP1	Q9BX63	p.Glu1144Gly	RCV000581063	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683615T>C	ClinVar
BRIP1	Q9BX63	p.Glu1144Gly	RCV000206799	missense variant	Familial cancer of breast	NC_000017.11:g.61683615T>C	ClinVar
BRIP1	Q9BX63	p.Glu1144Gly	RCV000409113	missense variant	Neoplasm of ovary	NC_000017.11:g.61683615T>C	ClinVar
BRIP1	Q9BX63	p.Glu1144Gly	RCV000411587	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683615T>C	ClinVar
BRIP1	Q9BX63	p.Glu1144Gly	rs774605759	missense variant	-	NC_000017.11:g.61683615T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Glu1145Asp	rs876660035	missense variant	-	NC_000017.11:g.61683611T>G	-
BRIP1	Q9BX63	p.Glu1145Lys	rs1378029485	missense variant	-	NC_000017.11:g.61683613C>T	gnomAD
BRIP1	Q9BX63	p.Glu1145Asp	RCV000220940	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683611T>G	ClinVar
BRIP1	Q9BX63	p.Glu1145Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683612T>G	NCI-TCGA
BRIP1	Q9BX63	p.Lys1146Glu	RCV000164964	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683610T>C	ClinVar
BRIP1	Q9BX63	p.Lys1146Glu	RCV000537167	missense variant	Familial cancer of breast	NC_000017.11:g.61683610T>C	ClinVar
BRIP1	Q9BX63	p.Lys1146Glu	rs786202247	missense variant	-	NC_000017.11:g.61683610T>C	TOPMed
BRIP1	Q9BX63	p.Lys1146Arg	RCV000695230	missense variant	Familial cancer of breast	NC_000017.11:g.61683609T>C	ClinVar
BRIP1	Q9BX63	p.Asn1147Ter	RCV000561490	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683612dup	ClinVar
BRIP1	Q9BX63	p.Asn1147Ter	RCV000657331	frameshift	-	NC_000017.11:g.61683612dup	ClinVar
BRIP1	Q9BX63	p.Asn1147Ter	RCV000636076	frameshift	Familial cancer of breast	NC_000017.11:g.61683612dup	ClinVar
BRIP1	Q9BX63	p.Asn1147Asp	rs1258403817	missense variant	-	NC_000017.11:g.61683607T>C	TOPMed
BRIP1	Q9BX63	p.Asn1147Asp	RCV000563144	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683607T>C	ClinVar
BRIP1	Q9BX63	p.Asp1148Glu	RCV000120402	missense variant	-	NC_000017.11:g.61683602G>T	ClinVar
BRIP1	Q9BX63	p.Asp1148Glu	rs28997573	missense variant	-	NC_000017.11:g.61683602G>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1148Glu	rs28997573	missense variant	-	NC_000017.11:g.61683602G>T	UniProt,dbSNP
BRIP1	Q9BX63	p.Asp1148Glu	VAR_052193	missense variant	-	NC_000017.11:g.61683602G>T	UniProt
BRIP1	Q9BX63	p.Asp1148Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683604C>A	NCI-TCGA
BRIP1	Q9BX63	p.Ala1150Pro	rs757363615	missense variant	-	NC_000017.11:g.61683598C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala1150Gly	rs1064796059	missense variant	-	NC_000017.11:g.61683597G>C	-
BRIP1	Q9BX63	p.Ala1150Gly	RCV000479074	missense variant	-	NC_000017.11:g.61683597G>C	ClinVar
BRIP1	Q9BX63	p.Glu1151Lys	rs1555572587	missense variant	-	NC_000017.11:g.61683595C>T	-
BRIP1	Q9BX63	p.Glu1151Lys	RCV000636109	missense variant	Familial cancer of breast	NC_000017.11:g.61683595C>T	ClinVar
BRIP1	Q9BX63	p.Asp1153Glu	rs4987050	missense variant	-	NC_000017.11:g.61683587A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1153His	COSM4848005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683589C>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Arg1154Gly	rs769359514	missense variant	-	NC_000017.11:g.61683586T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Arg1154Thr	rs1057522433	missense variant	-	NC_000017.11:g.61683585C>G	-
BRIP1	Q9BX63	p.Arg1154Thr	RCV000775895	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683585C>G	ClinVar
BRIP1	Q9BX63	p.Arg1154Thr	RCV000427270	missense variant	-	NC_000017.11:g.61683585C>G	ClinVar
BRIP1	Q9BX63	p.Arg1154Thr	RCV000820752	missense variant	Familial cancer of breast	NC_000017.11:g.61683585C>G	ClinVar
BRIP1	Q9BX63	p.Gly1155Glu	RCV000116158	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683582C>T	ClinVar
BRIP1	Q9BX63	p.Gly1155Glu	RCV000662581	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683582C>T	ClinVar
BRIP1	Q9BX63	p.Gly1155Glu	RCV000200049	missense variant	Familial cancer of breast	NC_000017.11:g.61683582C>T	ClinVar
BRIP1	Q9BX63	p.Gly1155Glu	rs45603843	missense variant	-	NC_000017.11:g.61683582C>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Gly1155Glu	RCV000662347	missense variant	-	NC_000017.11:g.61683582C>T	ClinVar
BRIP1	Q9BX63	p.Gly1155Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.61683583C>A	NCI-TCGA
BRIP1	Q9BX63	p.Arg1157Thr	rs776599258	missense variant	-	NC_000017.11:g.61683576C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu1158Trp	rs876659655	missense variant	-	NC_000017.11:g.61683573A>C	-
BRIP1	Q9BX63	p.Leu1158Trp	RCV000214687	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683573A>C	ClinVar
BRIP1	Q9BX63	p.Leu1158Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683572C>A	NCI-TCGA
BRIP1	Q9BX63	p.Ala1159Thr	RCV000521348	missense variant	-	NC_000017.11:g.61683571C>T	ClinVar
BRIP1	Q9BX63	p.Ala1159Thr	RCV000808973	missense variant	Familial cancer of breast	NC_000017.11:g.61683571C>T	ClinVar
BRIP1	Q9BX63	p.Ala1159Thr	rs368610199	missense variant	-	NC_000017.11:g.61683571C>T	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Ala1159Ser	rs368610199	missense variant	-	NC_000017.11:g.61683571C>A	ESP,ExAC,gnomAD
BRIP1	Q9BX63	p.Ala1159Thr	RCV000222116	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683571C>T	ClinVar
BRIP1	Q9BX63	p.Ile1165Leu	RCV000772628	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683553T>G	ClinVar
BRIP1	Q9BX63	p.Ile1165Leu	RCV000636152	missense variant	Familial cancer of breast	NC_000017.11:g.61683553T>G	ClinVar
BRIP1	Q9BX63	p.Ile1165Leu	rs771889454	missense variant	-	NC_000017.11:g.61683553T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala1167Thr	RCV000571779	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683547C>T	ClinVar
BRIP1	Q9BX63	p.Ala1167Thr	rs1555572570	missense variant	-	NC_000017.11:g.61683547C>T	-
BRIP1	Q9BX63	p.Ala1167Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683546G>A	NCI-TCGA
BRIP1	Q9BX63	p.Lys1168Asn	rs1259866317	missense variant	-	NC_000017.11:g.61683542T>G	gnomAD
BRIP1	Q9BX63	p.Lys1168Thr	RCV000506530	missense variant	-	NC_000017.11:g.61683543T>G	ClinVar
BRIP1	Q9BX63	p.Lys1168Thr	RCV000701820	missense variant	Familial cancer of breast	NC_000017.11:g.61683543T>G	ClinVar
BRIP1	Q9BX63	p.Lys1168Thr	rs749589266	missense variant	-	NC_000017.11:g.61683543T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp1169Glu	RCV000205088	missense variant	Familial cancer of breast	NC_000017.11:g.61683539G>T	ClinVar
BRIP1	Q9BX63	p.Asp1169Glu	RCV000255184	missense variant	-	NC_000017.11:g.61683539G>T	ClinVar
BRIP1	Q9BX63	p.Asp1169Glu	RCV000216628	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683539G>T	ClinVar
BRIP1	Q9BX63	p.Asp1169Tyr	RCV000473664	missense variant	Familial cancer of breast	NC_000017.11:g.61683541C>A	ClinVar
BRIP1	Q9BX63	p.Asp1169Tyr	RCV000130477	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683541C>A	ClinVar
BRIP1	Q9BX63	p.Asp1169Glu	rs375741316	missense variant	-	NC_000017.11:g.61683539G>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1169Tyr	rs587782029	missense variant	-	NC_000017.11:g.61683541C>A	TOPMed,gnomAD
BRIP1	Q9BX63	p.Leu1170Val	rs587782552	missense variant	-	NC_000017.11:g.61683538G>C	-
BRIP1	Q9BX63	p.Leu1170Val	RCV000706879	missense variant	Familial cancer of breast	NC_000017.11:g.61683538G>C	ClinVar
BRIP1	Q9BX63	p.Leu1170Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683538G>A	NCI-TCGA
BRIP1	Q9BX63	p.Leu1170Val	RCV000131766	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683538G>C	ClinVar
BRIP1	Q9BX63	p.Phe1171Ser	RCV000233067	missense variant	Familial cancer of breast	NC_000017.11:g.61683534A>G	ClinVar
BRIP1	Q9BX63	p.Phe1171Ser	rs878855155	missense variant	-	NC_000017.11:g.61683534A>G	TOPMed
BRIP1	Q9BX63	p.Glu1172Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683532C>T	NCI-TCGA
BRIP1	Q9BX63	p.Arg1174Thr	RCV000165581	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683525C>G	ClinVar
BRIP1	Q9BX63	p.Arg1174Thr	rs786202662	missense variant	-	NC_000017.11:g.61683525C>G	-
BRIP1	Q9BX63	p.Thr1175Ala	rs372799558	missense variant	-	NC_000017.11:g.61683523T>C	ESP,TOPMed,gnomAD
BRIP1	Q9BX63	p.Thr1175Ala	RCV000780067	missense variant	-	NC_000017.11:g.61683523T>C	ClinVar
BRIP1	Q9BX63	p.Thr1175Ala	RCV000709524	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683523T>C	ClinVar
BRIP1	Q9BX63	p.Thr1175Ala	RCV000525915	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683523T>C	ClinVar
BRIP1	Q9BX63	p.Ile1176Leu	COSM6081876	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683520T>G	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Lys1177Phe	RCV000580510	insertion	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683518delinsAAAG	ClinVar
BRIP1	Q9BX63	p.Lys1177Gln	rs756313788	missense variant	-	NC_000017.11:g.61683517T>G	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu1178Val	RCV000567944	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683513T>A	ClinVar
BRIP1	Q9BX63	p.Glu1178Val	RCV000538490	missense variant	Familial cancer of breast	NC_000017.11:g.61683513T>A	ClinVar
BRIP1	Q9BX63	p.Glu1178Lys	RCV000566706	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683514C>T	ClinVar
BRIP1	Q9BX63	p.Glu1178Lys	RCV000468712	missense variant	Familial cancer of breast	NC_000017.11:g.61683514C>T	ClinVar
BRIP1	Q9BX63	p.Glu1178Ter	RCV000219880	nonsense	-	NC_000017.11:g.61683514C>A	ClinVar
BRIP1	Q9BX63	p.Glu1178Ter	rs876661115	stop gained	-	NC_000017.11:g.61683514C>A	-
BRIP1	Q9BX63	p.Glu1178Lys	rs876661115	missense variant	-	NC_000017.11:g.61683514C>T	-
BRIP1	Q9BX63	p.Glu1178Val	rs752850661	missense variant	-	NC_000017.11:g.61683513T>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Val1179Ile	rs781289228	missense variant	-	NC_000017.11:g.61683511C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp1180His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683508C>G	NCI-TCGA
BRIP1	Q9BX63	p.Ser1181Ter	rs1443889417	stop gained	-	NC_000017.11:g.61683504G>C	gnomAD
BRIP1	Q9BX63	p.Ala1182Thr	rs1555572535	missense variant	-	NC_000017.11:g.61683502C>T	-
BRIP1	Q9BX63	p.Ala1182Thr	RCV000555654	missense variant	Familial cancer of breast	NC_000017.11:g.61683502C>T	ClinVar
BRIP1	Q9BX63	p.Ala1182Thr	RCV000583448	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683502C>T	ClinVar
BRIP1	Q9BX63	p.Val1185Leu	RCV000700503	missense variant	Familial cancer of breast	NC_000017.11:g.61683493C>A	ClinVar
BRIP1	Q9BX63	p.Val1185Leu	RCV000685900	missense variant	Familial cancer of breast	NC_000017.11:g.61683493C>G	ClinVar
BRIP1	Q9BX63	p.Lys1186Glu	RCV000216904	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683490T>C	ClinVar
BRIP1	Q9BX63	p.Lys1186Arg	rs763298204	missense variant	-	NC_000017.11:g.61683489T>C	ExAC
BRIP1	Q9BX63	p.Lys1186Glu	rs766709841	missense variant	-	NC_000017.11:g.61683490T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ala1187Thr	RCV000709523	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683487C>T	ClinVar
BRIP1	Q9BX63	p.Ala1187Thr	RCV000160327	missense variant	-	NC_000017.11:g.61683487C>T	ClinVar
BRIP1	Q9BX63	p.Ala1187Thr	RCV000573454	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683487C>T	ClinVar
BRIP1	Q9BX63	p.Ala1187Thr	RCV000662546	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683487C>T	ClinVar
BRIP1	Q9BX63	p.Ala1187Thr	rs367610893	missense variant	-	NC_000017.11:g.61683487C>T	ESP,ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Ala1187Thr	RCV000226626	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683487C>T	ClinVar
BRIP1	Q9BX63	p.Glu1188Lys	RCV000164518	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683484C>T	ClinVar
BRIP1	Q9BX63	p.Glu1188Lys	rs786201962	missense variant	-	NC_000017.11:g.61683484C>T	-
BRIP1	Q9BX63	p.Ile1191Val	RCV000166662	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683475T>C	ClinVar
BRIP1	Q9BX63	p.Ile1191Val	rs761405340	missense variant	-	NC_000017.11:g.61683475T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Asp1192Val	RCV000565825	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683471T>A	ClinVar
BRIP1	Q9BX63	p.Asp1192Val	rs1555572525	missense variant	-	NC_000017.11:g.61683471T>A	-
BRIP1	Q9BX63	p.Thr1193Ile	rs1368343911	missense variant	-	NC_000017.11:g.61683468G>A	gnomAD
BRIP1	Q9BX63	p.Lys1194Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683466T>G	NCI-TCGA
BRIP1	Q9BX63	p.Leu1195Ter	RCV000580546	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683460_61683462delinsCC	ClinVar
BRIP1	Q9BX63	p.Gly1197Glu	rs587781677	missense variant	-	NC_000017.11:g.61683456C>T	-
BRIP1	Q9BX63	p.Gly1197Glu	RCV000679786	missense variant	-	NC_000017.11:g.61683456C>T	ClinVar
BRIP1	Q9BX63	p.Gly1197Glu	RCV000473357	missense variant	Familial cancer of breast	NC_000017.11:g.61683456C>T	ClinVar
BRIP1	Q9BX63	p.Gly1197Glu	RCV000129837	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683456C>T	ClinVar
BRIP1	Q9BX63	p.Leu1199Val	RCV000217471	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683451G>C	ClinVar
BRIP1	Q9BX63	p.Leu1199Val	rs876659839	missense variant	-	NC_000017.11:g.61683451G>C	gnomAD
BRIP1	Q9BX63	p.His1200Arg	rs730881628	missense variant	-	NC_000017.11:g.61683447T>C	-
BRIP1	Q9BX63	p.His1200Gln	rs1441586932	missense variant	-	NC_000017.11:g.61683446A>T	gnomAD
BRIP1	Q9BX63	p.His1200Arg	RCV000160328	missense variant	-	NC_000017.11:g.61683447T>C	ClinVar
BRIP1	Q9BX63	p.Ile1201Val	rs1396175226	missense variant	-	NC_000017.11:g.61683445T>C	TOPMed
BRIP1	Q9BX63	p.Glu1202Gly	RCV000233466	missense variant	Familial cancer of breast	NC_000017.11:g.61683441T>C	ClinVar
BRIP1	Q9BX63	p.Glu1202Gly	RCV000165933	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683441T>C	ClinVar
BRIP1	Q9BX63	p.Glu1202Gly	RCV000214877	missense variant	-	NC_000017.11:g.61683441T>C	ClinVar
BRIP1	Q9BX63	p.Glu1202Gly	rs776010326	missense variant	-	NC_000017.11:g.61683441T>C	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Glu1203Lys	rs1285317687	missense variant	-	NC_000017.11:g.61683439C>T	gnomAD
BRIP1	Q9BX63	p.Glu1203Ile	rs587782615	missense variant	-	NC_000017.11:g.61683438_61683439delinsAT	-
BRIP1	Q9BX63	p.Glu1203Val	rs1403310555	missense variant	-	NC_000017.11:g.61683438T>A	gnomAD
BRIP1	Q9BX63	p.Glu1203Ile	RCV000131993	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683438_61683439delinsAT	ClinVar
BRIP1	Q9BX63	p.Lys1205Asn	rs768156067	missense variant	-	NC_000017.11:g.61683431T>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Lys1205Glu	rs1345178694	missense variant	-	NC_000017.11:g.61683433T>C	gnomAD
BRIP1	Q9BX63	p.Lys1205Arg	COSM1589095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683432T>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Asp1207Val	rs139539831	missense variant	-	NC_000017.11:g.61683426T>A	ESP
BRIP1	Q9BX63	p.Asp1208Asn	RCV000540096	missense variant	Familial cancer of breast	NC_000017.11:g.61683424C>T	ClinVar
BRIP1	Q9BX63	p.Asp1208His	RCV000487009	missense variant	-	NC_000017.11:g.61683424C>G	ClinVar
BRIP1	Q9BX63	p.Asp1208His	RCV000689972	missense variant	Familial cancer of breast	NC_000017.11:g.61683424C>G	ClinVar
BRIP1	Q9BX63	p.Asp1208His	RCV000678993	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683424C>G	ClinVar
BRIP1	Q9BX63	p.Asp1208Asn	rs760589795	missense variant	-	NC_000017.11:g.61683424C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp1208His	rs760589795	missense variant	-	NC_000017.11:g.61683424C>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Asp1208Val	rs1223419621	missense variant	-	NC_000017.11:g.61683423T>A	gnomAD
BRIP1	Q9BX63	p.Asp1208Gly	COSM1384992	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683423T>C	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Gly1211Ser	RCV000776820	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683415C>T	ClinVar
BRIP1	Q9BX63	p.Gly1211Ser	RCV000696975	missense variant	Familial cancer of breast	NC_000017.11:g.61683415C>T	ClinVar
BRIP1	Q9BX63	p.Thr1215Ile	rs771805501	missense variant	-	NC_000017.11:g.61683402G>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr1216Ile	RCV000701257	missense variant	Familial cancer of breast	NC_000017.11:g.61683399G>A	ClinVar
BRIP1	Q9BX63	p.Trp1217Cys	rs542698396	missense variant	-	NC_000017.11:g.61683395C>A	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Trp1217Cys	RCV000227303	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683395C>A	ClinVar
BRIP1	Q9BX63	p.Trp1217Ter	RCV000586366	nonsense	-	NC_000017.11:g.61683395C>T	ClinVar
BRIP1	Q9BX63	p.Trp1217Cys	RCV000129907	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683395C>A	ClinVar
BRIP1	Q9BX63	p.Trp1217Ter	rs542698396	stop gained	-	NC_000017.11:g.61683395C>T	ExAC,TOPMed,gnomAD
BRIP1	Q9BX63	p.Trp1217Ter	RCV000662837	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683395C>T	ClinVar
BRIP1	Q9BX63	p.Trp1217Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683397A>C	NCI-TCGA
BRIP1	Q9BX63	p.Trp1217Cys	RCV000709522	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683395C>A	ClinVar
BRIP1	Q9BX63	p.Trp1217Cys	RCV000483182	missense variant	-	NC_000017.11:g.61683395C>A	ClinVar
BRIP1	Q9BX63	p.Trp1217Ter	RCV000166368	nonsense	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683395C>T	ClinVar
BRIP1	Q9BX63	p.Trp1217Cys	RCV000657056	missense variant	-	NC_000017.11:g.61683395C>A	ClinVar
BRIP1	Q9BX63	p.Trp1217Ter	RCV000457986	nonsense	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683395C>T	ClinVar
BRIP1	Q9BX63	p.Asn1219His	RCV000707033	missense variant	Familial cancer of breast	NC_000017.11:g.61683391T>G	ClinVar
BRIP1	Q9BX63	p.Glu1220Ter	rs1555572476	stop gained	-	NC_000017.11:g.61683388C>A	-
BRIP1	Q9BX63	p.Glu1220Lys	rs1555572476	missense variant	-	NC_000017.11:g.61683388C>T	-
BRIP1	Q9BX63	p.Glu1220Lys	RCV000562715	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683388C>T	ClinVar
BRIP1	Q9BX63	p.Glu1220Ter	RCV000533428	nonsense	Familial cancer of breast	NC_000017.11:g.61683388C>A	ClinVar
BRIP1	Q9BX63	p.Glu1220Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.61683387T>A	NCI-TCGA
BRIP1	Q9BX63	p.Leu1221Arg	rs778805688	missense variant	-	NC_000017.11:g.61683384A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Leu1221Arg	RCV000167303	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683384A>C	ClinVar
BRIP1	Q9BX63	p.Glu1222Ter	RCV000546037	frameshift	Familial cancer of breast	NC_000017.11:g.61683383dup	ClinVar
BRIP1	Q9BX63	p.Glu1222Asp	rs1170304369	missense variant	-	NC_000017.11:g.61683380T>G	gnomAD
BRIP1	Q9BX63	p.Glu1222Gly	rs770175142	missense variant	-	NC_000017.11:g.61683381T>C	ExAC
BRIP1	Q9BX63	p.Glu1222Ter	RCV000677869	frameshift	Neoplasm of the breast	NC_000017.11:g.61683383dup	ClinVar
BRIP1	Q9BX63	p.Glu1222Ter	RCV000567587	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683383dup	ClinVar
BRIP1	Q9BX63	p.Leu1223Val	rs748310432	missense variant	-	NC_000017.11:g.61683379G>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Thr1226Pro	RCV000230422	missense variant	Familial cancer of breast	NC_000017.11:g.61683370T>G	ClinVar
BRIP1	Q9BX63	p.Thr1226Pro	RCV000773241	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683370T>G	ClinVar
BRIP1	Q9BX63	p.Thr1226Pro	rs781140410	missense variant	-	NC_000017.11:g.61683370T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.His1227Arg	RCV000564305	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683366T>C	ClinVar
BRIP1	Q9BX63	p.His1227Arg	rs755069935	missense variant	-	NC_000017.11:g.61683366T>C	ExAC,gnomAD
BRIP1	Q9BX63	p.His1227Arg	RCV000636180	missense variant	Familial cancer of breast	NC_000017.11:g.61683366T>C	ClinVar
BRIP1	Q9BX63	p.His1227Arg	RCV000482462	missense variant	-	NC_000017.11:g.61683366T>C	ClinVar
BRIP1	Q9BX63	p.Ile1229Thr	rs1157058742	missense variant	-	NC_000017.11:g.61683360A>G	gnomAD
BRIP1	Q9BX63	p.Ile1229Ter	RCV000584048	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683360_61683361del	ClinVar
BRIP1	Q9BX63	p.Ile1231Thr	rs780578438	missense variant	-	NC_000017.11:g.61683354A>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile1231Val	rs876659290	missense variant	-	NC_000017.11:g.61683355T>C	-
BRIP1	Q9BX63	p.Ile1231Arg	rs780578438	missense variant	-	NC_000017.11:g.61683354A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Ile1231Thr	RCV000558507	missense variant	Familial cancer of breast	NC_000017.11:g.61683354A>G	ClinVar
BRIP1	Q9BX63	p.Ile1231Met	RCV000709520	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683353T>C	ClinVar
BRIP1	Q9BX63	p.Ile1231Val	RCV000216449	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683355T>C	ClinVar
BRIP1	Q9BX63	p.Ile1231Val	RCV000636086	missense variant	Familial cancer of breast	NC_000017.11:g.61683355T>C	ClinVar
BRIP1	Q9BX63	p.Ile1231Val	RCV000709521	missense variant	Fanconi anemia, complementation group J (FANCJ)	NC_000017.11:g.61683355T>C	ClinVar
BRIP1	Q9BX63	p.Ile1231Met	rs1046992728	missense variant	-	NC_000017.11:g.61683353T>C	TOPMed,gnomAD
BRIP1	Q9BX63	p.Ile1231Met	RCV000569978	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683353T>C	ClinVar
BRIP1	Q9BX63	p.Lys1232Arg	RCV000530158	missense variant	Familial cancer of breast	NC_000017.11:g.61683351T>C	ClinVar
BRIP1	Q9BX63	p.Lys1232Arg	rs1555572446	missense variant	-	NC_000017.11:g.61683351T>C	-
BRIP1	Q9BX63	p.Asn1233Lys	RCV000468361	missense variant	Familial cancer of breast	NC_000017.11:g.61683347G>T	ClinVar
BRIP1	Q9BX63	p.Asn1233Lys	rs1060501734	missense variant	-	NC_000017.11:g.61683347G>T	TOPMed,gnomAD
BRIP1	Q9BX63	p.Asn1233Lys	RCV000574401	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683347G>T	ClinVar
BRIP1	Q9BX63	p.Phe1234Leu	RCV000233279	missense variant	Familial cancer of breast	NC_000017.11:g.61683346A>G	ClinVar
BRIP1	Q9BX63	p.Phe1234Cys	RCV000120403	missense variant	-	NC_000017.11:g.61683345A>C	ClinVar
BRIP1	Q9BX63	p.Phe1234Leu	rs878855156	missense variant	-	NC_000017.11:g.61683346A>G	-
BRIP1	Q9BX63	p.Phe1234Cys	rs587778137	missense variant	-	NC_000017.11:g.61683345A>C	TOPMed
BRIP1	Q9BX63	p.Lys1235Ile	rs1432536152	missense variant	-	NC_000017.11:g.61683342T>A	gnomAD
BRIP1	Q9BX63	p.Lys1235Glu	RCV000771631	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683343T>C	ClinVar
BRIP1	Q9BX63	p.Pro1236Ser	rs1060501771	missense variant	-	NC_000017.11:g.61683340G>A	-
BRIP1	Q9BX63	p.Pro1236Leu	rs1265133595	missense variant	-	NC_000017.11:g.61683339G>A	gnomAD
BRIP1	Q9BX63	p.Pro1236Ser	RCV000477091	missense variant	Familial cancer of breast	NC_000017.11:g.61683340G>A	ClinVar
BRIP1	Q9BX63	p.Ser1237Phe	RCV000130095	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683336G>A	ClinVar
BRIP1	Q9BX63	p.Ser1237Tyr	RCV000606452	missense variant	-	NC_000017.11:g.61683336G>T	ClinVar
BRIP1	Q9BX63	p.Ser1237Tyr	rs587781819	missense variant	-	NC_000017.11:g.61683336G>T	-
BRIP1	Q9BX63	p.Ser1237Phe	rs587781819	missense variant	-	NC_000017.11:g.61683336G>A	-
BRIP1	Q9BX63	p.Pro1238Ser	rs1192747697	missense variant	-	NC_000017.11:g.61683334G>A	gnomAD
BRIP1	Q9BX63	p.Ser1239Pro	rs587781886	missense variant	-	NC_000017.11:g.61683331A>G	-
BRIP1	Q9BX63	p.Ser1239Pro	RCV000130216	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683331A>G	ClinVar
BRIP1	Q9BX63	p.Gly1243Asp	RCV000459332	missense variant	Familial cancer of breast	NC_000017.11:g.61683318C>T	ClinVar
BRIP1	Q9BX63	p.Gly1243Asp	RCV000519725	missense variant	-	NC_000017.11:g.61683318C>T	ClinVar
BRIP1	Q9BX63	p.Gly1243Cys	RCV000116159	missense variant	-	NC_000017.11:g.61683319C>A	ClinVar
BRIP1	Q9BX63	p.Gly1243Cys	rs587780250	missense variant	-	NC_000017.11:g.61683319C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly1243Val	rs765545033	missense variant	-	NC_000017.11:g.61683318C>A	ExAC,gnomAD
BRIP1	Q9BX63	p.Gly1243Asp	rs765545033	missense variant	-	NC_000017.11:g.61683318C>T	ExAC,gnomAD
BRIP1	Q9BX63	p.Met1244Ter	RCV000160359	frameshift	-	NC_000017.11:g.61683315_61683316del	ClinVar
BRIP1	Q9BX63	p.Met1244Ter	RCV000217493	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683315_61683316del	ClinVar
BRIP1	Q9BX63	p.Met1244Lys	rs1260819959	missense variant	-	NC_000017.11:g.61683315A>T	gnomAD
BRIP1	Q9BX63	p.Met1244Ter	RCV000205061	frameshift	Familial cancer of breast	NC_000017.11:g.61683315_61683316del	ClinVar
BRIP1	Q9BX63	p.Met1244Ter	RCV000470471	frameshift	Familial cancer of breast	NC_000017.11:g.61683317_61683321dup	ClinVar
BRIP1	Q9BX63	p.Met1244Leu	rs761468878	missense variant	-	NC_000017.11:g.61683316T>G	ExAC,gnomAD
BRIP1	Q9BX63	p.Met1244Ile	rs753516000	missense variant	-	NC_000017.11:g.61683314C>T	ExAC
BRIP1	Q9BX63	p.Pro1246Leu	RCV000636105	missense variant	Familial cancer of breast	NC_000017.11:g.61683309G>A	ClinVar
BRIP1	Q9BX63	p.Pro1246Leu	RCV000222505	missense variant	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683309G>A	ClinVar
BRIP1	Q9BX63	p.Pro1246Leu	rs876660074	missense variant	-	NC_000017.11:g.61683309G>A	gnomAD
BRIP1	Q9BX63	p.Pro1246Thr	COSM1589096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.61683310G>T	NCI-TCGA Cosmic
BRIP1	Q9BX63	p.Gly1247Ser	rs1196057129	missense variant	-	NC_000017.11:g.61683307C>T	TOPMed
BRIP1	Q9BX63	p.PheLysTer1248PheUnk	rs1555572410	stop lost	-	NC_000017.11:g.61683299_61683302del	-
BRIP1	Q9BX63	p.Phe1248Cys	RCV000636073	missense variant	Familial cancer of breast	NC_000017.11:g.61683303A>C	ClinVar
BRIP1	Q9BX63	p.Phe1248Cys	rs763579793	missense variant	-	NC_000017.11:g.61683303A>C	ExAC,gnomAD
BRIP1	Q9BX63	p.Phe1248Leu	RCV000679787	missense variant	-	NC_000017.11:g.61683304A>G	ClinVar
BRIP1	Q9BX63	p.Lys1249Ter	RCV000777424	frameshift	Hereditary cancer-predisposing syndrome	NC_000017.11:g.61683299_61683302del	ClinVar
BRIP1	Q9BX63	p.Lys1249Ter	RCV000636176	frameshift	Familial cancer of breast	NC_000017.11:g.61683299_61683302del	ClinVar
LGR4	Q9BXB1	p.Phe10Leu	rs1288238177	missense variant	-	NC_000011.10:g.27472275A>G	TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu11Ile	rs1418290336	missense variant	-	NC_000011.10:g.27472272G>T	gnomAD
LGR4	Q9BXB1	p.Ala12Val	rs1178638283	missense variant	-	NC_000011.10:g.27472268G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu16Pro	rs531396859	missense variant	-	NC_000011.10:g.27472256A>G	1000Genomes
LGR4	Q9BXB1	p.Gly17Ser	rs1461440594	missense variant	-	NC_000011.10:g.27472254C>T	TOPMed
LGR4	Q9BXB1	p.Gly17Ala	rs1222491503	missense variant	-	NC_000011.10:g.27472253C>G	gnomAD
LGR4	Q9BXB1	p.Ser18Leu	rs1462232131	missense variant	-	NC_000011.10:g.27472250G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser18Trp	rs1462232131	missense variant	-	NC_000011.10:g.27472250G>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly20Arg	rs918096327	missense variant	-	NC_000011.10:g.27472245C>G	TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro21Leu	rs1475406838	missense variant	-	NC_000011.10:g.27472241G>A	TOPMed
LGR4	Q9BXB1	p.Pro21Ala	rs1374134998	missense variant	-	NC_000011.10:g.27472242G>C	TOPMed
LGR4	Q9BXB1	p.Gly23Ser	rs1470401898	missense variant	-	NC_000011.10:g.27472236C>T	TOPMed
LGR4	Q9BXB1	p.Gly23Cys	rs1470401898	missense variant	-	NC_000011.10:g.27472236C>A	TOPMed
LGR4	Q9BXB1	p.Ala24Val	rs1308150051	missense variant	-	NC_000011.10:g.27472232G>A	gnomAD
LGR4	Q9BXB1	p.Ala25Val	rs1225722464	missense variant	-	NC_000011.10:g.27472229G>A	gnomAD
LGR4	Q9BXB1	p.Pro26Gln	rs1453512314	missense variant	-	NC_000011.10:g.27472226G>T	gnomAD
LGR4	Q9BXB1	p.Pro26Ser	rs1336266893	missense variant	-	NC_000011.10:g.27472227G>A	gnomAD
LGR4	Q9BXB1	p.Cys29Arg	rs1408306623	missense variant	-	NC_000011.10:g.27472218A>G	gnomAD
LGR4	Q9BXB1	p.Ala30Val	rs1412699401	missense variant	-	NC_000011.10:g.27472214G>A	gnomAD
LGR4	Q9BXB1	p.Pro32Leu	rs1452952330	missense variant	-	NC_000011.10:g.27472208G>A	gnomAD
LGR4	Q9BXB1	p.Ser34Ile	rs774478222	missense variant	-	NC_000011.10:g.27472202C>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Gly37Cys	rs771305054	missense variant	-	NC_000011.10:g.27472194C>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Gly37Ser	rs771305054	missense variant	-	NC_000011.10:g.27472194C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Asp38Asn	rs1296100162	missense variant	-	NC_000011.10:g.27472191C>T	TOPMed
LGR4	Q9BXB1	p.Asp38Ala	rs1183785232	missense variant	-	NC_000011.10:g.27472190T>G	gnomAD
LGR4	Q9BXB1	p.Arg39Leu	rs1445935940	missense variant	-	NC_000011.10:g.27472187C>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg40Pro	rs1415604191	missense variant	-	NC_000011.10:g.27472184C>G	gnomAD
LGR4	Q9BXB1	p.Asp42Tyr	rs1225161093	missense variant	-	NC_000011.10:g.27472179C>A	TOPMed
LGR4	Q9BXB1	p.Cys43Phe	rs1323657891	missense variant	-	NC_000011.10:g.27472175C>A	TOPMed
LGR4	Q9BXB1	p.Cys43Ter	rs1245648512	stop gained	-	NC_000011.10:g.27472174G>T	gnomAD
LGR4	Q9BXB1	p.Gly47Trp	rs1486679844	missense variant	-	NC_000011.10:g.27472164C>A	TOPMed
LGR4	Q9BXB1	p.Thr49Ala	rs1261729926	missense variant	-	NC_000011.10:g.27472158T>C	gnomAD
LGR4	Q9BXB1	p.Thr49Arg	rs1218409054	missense variant	-	NC_000011.10:g.27472157G>C	gnomAD
LGR4	Q9BXB1	p.Ala50Val	rs1314637648	missense variant	-	NC_000011.10:g.27472154G>A	gnomAD
LGR4	Q9BXB1	p.Val51Leu	rs201925650	missense variant	-	NC_000011.10:g.27472152C>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val51Met	rs201925650	missense variant	-	NC_000011.10:g.27472152C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro52Ser	rs1428370107	missense variant	-	NC_000011.10:g.27472149G>A	TOPMed
LGR4	Q9BXB1	p.Glu53Ter	rs1293522352	stop gained	-	NC_000011.10:g.27472146C>A	gnomAD
LGR4	Q9BXB1	p.Glu53Gln	rs1293522352	missense variant	-	NC_000011.10:g.27472146C>G	gnomAD
LGR4	Q9BXB1	p.Ala57Ser	rs1290512062	missense variant	-	NC_000011.10:g.27472134C>A	gnomAD
LGR4	Q9BXB1	p.Phe58Leu	rs1422551835	missense variant	-	NC_000011.10:g.27472131A>G	TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr59Asn	rs1364662796	missense variant	-	NC_000011.10:g.27472127G>T	gnomAD
LGR4	Q9BXB1	p.Gln60Glu	rs748723131	missense variant	-	NC_000011.10:g.27472125G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Asp63Gly	rs1480966678	missense variant	-	NC_000011.10:g.27412858T>C	TOPMed
LGR4	Q9BXB1	p.Asp63Tyr	rs1248687899	missense variant	-	NC_000011.10:g.27412859C>A	gnomAD
LGR4	Q9BXB1	p.Met66Lys	rs1195398691	missense variant	-	NC_000011.10:g.27412849A>T	gnomAD
LGR4	Q9BXB1	p.Asn68Asp	rs142775802	missense variant	-	NC_000011.10:g.27412844T>C	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Ile69Val	rs1253123496	missense variant	-	NC_000011.10:g.27412841T>C	gnomAD
LGR4	Q9BXB1	p.Gln71Leu	rs750137171	missense variant	-	NC_000011.10:g.27412834T>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu72Ser	rs1283785942	missense variant	-	NC_000011.10:g.27412831A>G	gnomAD
LGR4	Q9BXB1	p.Pro73Leu	rs1406552053	missense variant	-	NC_000011.10:g.27412828G>A	gnomAD
LGR4	Q9BXB1	p.Asp75Glu	rs1333727861	missense variant	-	NC_000011.10:g.27412821A>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala76Thr	rs941407573	missense variant	-	NC_000011.10:g.27412820C>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro81Ser	rs1422993680	missense variant	-	NC_000011.10:g.27412805G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Glu85Asp	COSM2113391	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27412791C>G	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Glu85Gly	rs1379922921	missense variant	-	NC_000011.10:g.27412792T>C	TOPMed
LGR4	Q9BXB1	p.Gln87Arg	rs1382941841	missense variant	-	NC_000011.10:g.27392516T>C	gnomAD
LGR4	Q9BXB1	p.Ala89Val	COSM926134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27392510G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Asn91Ser	rs1304311592	missense variant	-	NC_000011.10:g.27392504T>C	TOPMed
LGR4	Q9BXB1	p.Asn91Asp	rs1390733403	missense variant	-	NC_000011.10:g.27392505T>C	TOPMed
LGR4	Q9BXB1	p.Asn91Lys	rs370663209	missense variant	-	NC_000011.10:g.27392503G>C	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Asp92Asn	rs376236224	missense variant	-	NC_000011.10:g.27392502C>T	ESP,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu93Phe	rs1401684189	missense variant	-	NC_000011.10:g.27392499G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser94Ala	rs1362793306	missense variant	-	NC_000011.10:g.27392496A>C	gnomAD
LGR4	Q9BXB1	p.Ile96Phe	rs757351670	missense variant	-	NC_000011.10:g.27392490T>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile96Val	rs757351670	missense variant	-	NC_000011.10:g.27392490T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.His97Tyr	rs766337515	missense variant	-	NC_000011.10:g.27392487G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro98Ser	rs1170722289	missense variant	-	NC_000011.10:g.27392484G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro98Gln	rs377062692	missense variant	-	NC_000011.10:g.27392483G>T	ESP,ExAC,gnomAD
LGR4	Q9BXB1	p.Lys99Glu	rs145577180	missense variant	-	NC_000011.10:g.27392481T>C	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala100Thr	rs1430602959	missense variant	-	NC_000011.10:g.27392478C>T	gnomAD
LGR4	Q9BXB1	p.Leu101Phe	rs1489159063	missense variant	-	NC_000011.10:g.27392473C>A	gnomAD
LGR4	Q9BXB1	p.Lys105Glu	rs1029033471	missense variant	-	NC_000011.10:g.27392463T>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Glu106Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27392460C>T	NCI-TCGA
LGR4	Q9BXB1	p.Val109Ile	rs768110034	missense variant	-	NC_000011.10:g.27392451C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val109SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.27392451_27392452insT	NCI-TCGA
LGR4	Q9BXB1	p.Thr111Ala	rs557754522	missense variant	-	NC_000011.10:g.27391164T>C	1000Genomes,gnomAD
LGR4	Q9BXB1	p.Thr111Met	rs750458681	missense variant	-	NC_000011.10:g.27391163G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Asn114Lys	rs1404724162	missense variant	-	NC_000011.10:g.27391153A>C	gnomAD
LGR4	Q9BXB1	p.Gln116His	rs149706958	missense variant	-	NC_000011.10:g.27391147C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gln116Arg	rs961908195	missense variant	-	NC_000011.10:g.27391148T>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr119Pro	rs1454647061	missense variant	-	NC_000011.10:g.27391140T>G	TOPMed
LGR4	Q9BXB1	p.Thr119Arg	rs764338798	missense variant	-	NC_000011.10:g.27391139G>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro121Leu	rs761154827	missense variant	-	NC_000011.10:g.27391133G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Pro121Thr	rs1329612369	missense variant	-	NC_000011.10:g.27391134G>T	gnomAD
LGR4	Q9BXB1	p.Ser122Arg	rs1019972222	missense variant	-	NC_000011.10:g.27391131T>G	TOPMed
LGR4	Q9BXB1	p.Ser122Leu	NCI-TCGA novel	insertion	-	NC_000011.10:g.27391128_27391129insAAG	NCI-TCGA
LGR4	Q9BXB1	p.Ala124Val	rs768029430	missense variant	-	NC_000011.10:g.27391124G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala124Gly	rs768029430	missense variant	-	NC_000011.10:g.27391124G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Ile125Met	COSM926133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27391120A>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ile125Val	rs760042478	missense variant	-	NC_000011.10:g.27391122T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Arg126Ter	RCV000049335	nonsense	Bone mineral density quantitative trait locus 17 (BMND17)	NC_000011.10:g.27391119G>A	ClinVar
LGR4	Q9BXB1	p.Arg126Gln	rs568680202	missense variant	-	NC_000011.10:g.27391118C>T	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Arg126Pro	rs568680202	missense variant	-	NC_000011.10:g.27391118C>G	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Arg126Ter	rs587777005	stop gained	Bone mineral density quantitative trait locus 17 (bmnd17)	NC_000011.10:g.27391119G>A	TOPMed
LGR4	Q9BXB1	p.Leu128Gln	rs762561065	missense variant	-	NC_000011.10:g.27391112A>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala130Val	COSM3446568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27391106G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ala130Ser	rs139788349	missense variant	-	NC_000011.10:g.27391107C>A	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu131Val	rs747930921	missense variant	-	NC_000011.10:g.27391104A>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Gln132Arg	rs1459535651	missense variant	-	NC_000011.10:g.27391100T>C	gnomAD
LGR4	Q9BXB1	p.Arg135His	rs183096316	missense variant	-	NC_000011.10:g.27385466C>T	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg135Cys	rs1314460232	missense variant	-	NC_000011.10:g.27385467G>A	gnomAD
LGR4	Q9BXB1	p.Asp137His	rs1381267350	missense variant	-	NC_000011.10:g.27385461C>G	gnomAD
LGR4	Q9BXB1	p.Ala138Asp	rs536355546	missense variant	-	NC_000011.10:g.27385457G>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr142Ala	rs765849642	missense variant	-	NC_000011.10:g.27385446T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser143Pro	rs1396096204	missense variant	-	NC_000011.10:g.27385443A>G	gnomAD
LGR4	Q9BXB1	p.Val144Gly	rs1369443351	missense variant	-	NC_000011.10:g.27385439A>C	TOPMed
LGR4	Q9BXB1	p.Glu146Lys	rs769421305	missense variant	-	NC_000011.10:g.27385434C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Glu146Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27385433T>C	NCI-TCGA
LGR4	Q9BXB1	p.Asp147Val	rs530261420	missense variant	-	NC_000011.10:g.27385430T>A	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Asp147Tyr	rs548402677	missense variant	-	NC_000011.10:g.27385431C>A	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Glu150Gln	COSM6132155	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27385422C>G	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Glu150Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27385420T>A	NCI-TCGA
LGR4	Q9BXB1	p.Gly151Arg	rs1424977595	missense variant	-	NC_000011.10:g.27385419C>G	gnomAD
LGR4	Q9BXB1	p.Gln154Lys	rs1403005545	missense variant	-	NC_000011.10:g.27385410G>T	TOPMed
LGR4	Q9BXB1	p.Arg156Trp	rs749587915	missense variant	-	NC_000011.10:g.27385404G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg156Gln	rs143913282	missense variant	-	NC_000011.10:g.27385403C>T	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.His157Arg	rs772158015	missense variant	-	NC_000011.10:g.27385400T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Trp159Cys	rs1398435177	missense variant	-	NC_000011.10:g.27385393C>G	TOPMed
LGR4	Q9BXB1	p.Asp161Glu	rs559583578	missense variant	-	NC_000011.10:g.27385387A>T	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Asp161Gly	rs777723959	missense variant	-	NC_000011.10:g.27385388T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Asp162Gly	COSM1353337	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27385385T>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Thr166Met	rs901907532	missense variant	-	NC_000011.10:g.27385373G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Glu167Asp	rs1176371333	missense variant	-	NC_000011.10:g.27385369C>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro169His	rs755381357	missense variant	-	NC_000011.10:g.27385364G>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val170Leu	rs751940116	missense variant	-	NC_000011.10:g.27385362C>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Val170Met	rs751940116	missense variant	-	NC_000011.10:g.27385362C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.His171Gln	rs1053576109	missense variant	-	NC_000011.10:g.27385357G>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro172Ser	COSM3446567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27385356G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Leu173Phe	rs371279462	missense variant	-	NC_000011.10:g.27385353G>A	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu173Val	rs371279462	missense variant	-	NC_000011.10:g.27385353G>C	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu173SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.27385353G>-	NCI-TCGA
LGR4	Q9BXB1	p.Ser174Arg	rs764710465	missense variant	-	NC_000011.10:g.27385348G>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr178Ile	rs1169006445	missense variant	-	NC_000011.10:g.27385337G>A	gnomAD
LGR4	Q9BXB1	p.Gln180Arg	COSM428877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27385331T>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ala181Val	rs775456873	missense variant	-	NC_000011.10:g.27385328G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala181Glu	rs775456873	missense variant	-	NC_000011.10:g.27385328G>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.AlaLeuThrLeuAlaLeuAsn181AlaLeuThrLeuAlaLeuSerTerProTrpLeuSerUnk	rs1183404284	stop gained	-	NC_000011.10:g.27385311_27385327dup	gnomAD
LGR4	Q9BXB1	p.Thr183Ala	rs745810561	missense variant	-	NC_000011.10:g.27385323T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr183Ile	rs773331622	missense variant	-	NC_000011.10:g.27385322G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu186Val	rs1478422675	missense variant	-	NC_000011.10:g.27385314G>C	TOPMed
LGR4	Q9BXB1	p.Ser191Ile	rs1226679746	missense variant	-	NC_000011.10:g.27385298C>A	gnomAD
LGR4	Q9BXB1	p.Ile192Val	rs1249453461	missense variant	-	NC_000011.10:g.27385296T>C	gnomAD
LGR4	Q9BXB1	p.Ile192GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.27385296_27385297insATTTC	NCI-TCGA
LGR4	Q9BXB1	p.Asp194Gly	rs781339140	missense variant	-	NC_000011.10:g.27385289T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Phe197Leu	rs755219941	missense variant	-	NC_000011.10:g.27385281A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr198Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27385278T>C	NCI-TCGA
LGR4	Q9BXB1	p.Asn199Ser	rs565257779	missense variant	-	NC_000011.10:g.27385274T>C	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu200His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27385271A>T	NCI-TCGA
LGR4	Q9BXB1	p.Ser201Leu	rs768593996	missense variant	-	NC_000011.10:g.27385268G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.His207Arg	rs758727838	missense variant	-	NC_000011.10:g.27384405T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.His209Arg	rs746365357	missense variant	-	NC_000011.10:g.27384399T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Asn210His	rs1279169767	missense variant	-	NC_000011.10:g.27384397T>G	gnomAD
LGR4	Q9BXB1	p.Asn211Ser	rs1246815630	missense variant	-	NC_000011.10:g.27384393T>C	TOPMed
LGR4	Q9BXB1	p.Asn211Asp	rs779240485	missense variant	-	NC_000011.10:g.27384394T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Arg214Gly	rs1259805873	missense variant	-	NC_000011.10:g.27384385T>C	gnomAD
LGR4	Q9BXB1	p.Leu216Val	rs1040498929	missense variant	-	NC_000011.10:g.27384379G>C	TOPMed
LGR4	Q9BXB1	p.Gln218Arg	rs1477381625	missense variant	-	NC_000011.10:g.27384372T>C	TOPMed
LGR4	Q9BXB1	p.Cys220Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27384366C>T	NCI-TCGA
LGR4	Q9BXB1	p.Gly223Arg	rs1451165108	missense variant	-	NC_000011.10:g.27384358C>T	gnomAD
LGR4	Q9BXB1	p.Leu224Val	rs1335361849	missense variant	-	NC_000011.10:g.27384355G>C	gnomAD
LGR4	Q9BXB1	p.Asp225Asn	rs1381704985	missense variant	-	NC_000011.10:g.27384352C>T	TOPMed
LGR4	Q9BXB1	p.Asp225Gly	rs1383236989	missense variant	-	NC_000011.10:g.27384351T>C	gnomAD
LGR4	Q9BXB1	p.Leu227Arg	rs755819497	missense variant	-	NC_000011.10:g.27384345A>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu232Val	rs1474383258	missense variant	-	NC_000011.10:g.27382252A>C	gnomAD
LGR4	Q9BXB1	p.Asn235Asp	COSM4032214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27382243T>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Leu237Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27382235C>A	NCI-TCGA
LGR4	Q9BXB1	p.Glu239Lys	rs1468267236	missense variant	-	NC_000011.10:g.27382231C>T	gnomAD
LGR4	Q9BXB1	p.Phe240Leu	rs1391554883	missense variant	-	NC_000011.10:g.27382228A>G	gnomAD
LGR4	Q9BXB1	p.Phe240Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27382226A>C	NCI-TCGA
LGR4	Q9BXB1	p.Pro241His	rs1489108220	missense variant	-	NC_000011.10:g.27382224G>T	gnomAD
LGR4	Q9BXB1	p.Ile244Val	rs749872002	missense variant	-	NC_000011.10:g.27382216T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala246Thr	rs1220349257	missense variant	-	NC_000011.10:g.27382210C>T	gnomAD
LGR4	Q9BXB1	p.Pro248Leu	rs1451718983	missense variant	-	NC_000011.10:g.27382203G>A	gnomAD
LGR4	Q9BXB1	p.Ser249Arg	rs755727709	missense variant	-	NC_000011.10:g.27382199G>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser249Asn	rs777420982	missense variant	-	NC_000011.10:g.27382200C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Glu252Asp	rs747452830	missense variant	-	NC_000011.10:g.27382190C>G	gnomAD
LGR4	Q9BXB1	p.Glu252Ter	rs1435910967	stop gained	-	NC_000011.10:g.27382192C>A	TOPMed
LGR4	Q9BXB1	p.His256Asp	rs1458880615	missense variant	-	NC_000011.10:g.27380959G>C	TOPMed
LGR4	Q9BXB1	p.His256Leu	rs1332011712	missense variant	-	NC_000011.10:g.27380958T>A	gnomAD
LGR4	Q9BXB1	p.Ser257Gly	rs989940363	missense variant	-	NC_000011.10:g.27380956T>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Asn258Ser	rs1403714885	missense variant	-	NC_000011.10:g.27380952T>C	gnomAD
LGR4	Q9BXB1	p.Ser261Tyr	rs1414757826	missense variant	-	NC_000011.10:g.27380943G>T	gnomAD
LGR4	Q9BXB1	p.Ser261Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27380943G>A	NCI-TCGA
LGR4	Q9BXB1	p.Val262Ala	rs747543228	missense variant	-	NC_000011.10:g.27380940A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Pro264Arg	rs1438593725	missense variant	-	NC_000011.10:g.27380934G>C	gnomAD
LGR4	Q9BXB1	p.Ala267Gly	rs780762647	missense variant	-	NC_000011.10:g.27380925G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala267Ser	rs1238217630	missense variant	-	NC_000011.10:g.27380926C>A	gnomAD
LGR4	Q9BXB1	p.Asp269Glu	rs143329908	missense variant	-	NC_000011.10:g.27380918A>T	ESP,ExAC,gnomAD
LGR4	Q9BXB1	p.Gly270Ser	rs746741341	missense variant	-	NC_000011.10:g.27380917C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn271His	rs1325318448	missense variant	-	NC_000011.10:g.27380914T>G	TOPMed
LGR4	Q9BXB1	p.Pro272Leu	rs1313103833	missense variant	-	NC_000011.10:g.27380910G>A	gnomAD
LGR4	Q9BXB1	p.Pro272Ser	rs779682678	missense variant	-	NC_000011.10:g.27380911G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr276Ala	rs1376342880	missense variant	-	NC_000011.10:g.27380899T>C	gnomAD
LGR4	Q9BXB1	p.Thr276Ser	rs1310068048	missense variant	-	NC_000011.10:g.27380898G>C	gnomAD
LGR4	Q9BXB1	p.Ile277Thr	rs757191638	missense variant	-	NC_000011.10:g.27380895A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Ile277Val	rs143341718	missense variant	-	NC_000011.10:g.27380896T>C	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.His278Tyr	rs779631815	missense variant	-	NC_000011.10:g.27380710G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.His278Arg	rs1306895189	missense variant	-	NC_000011.10:g.27380709T>C	TOPMed
LGR4	Q9BXB1	p.Asp281Gly	rs377315081	missense variant	-	NC_000011.10:g.27380700T>C	ESP
LGR4	Q9BXB1	p.Pro283Arg	rs149603971	missense variant	-	NC_000011.10:g.27380694G>C	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro283Leu	rs149603971	missense variant	-	NC_000011.10:g.27380694G>A	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro283His	COSM926132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27380694G>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Val287Leu	rs1284415443	missense variant	-	NC_000011.10:g.27380683C>A	TOPMed
LGR4	Q9BXB1	p.Ser290Ter	rs778693507	stop gained	-	NC_000011.10:g.27380673G>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala291Thr	rs372950771	missense variant	-	NC_000011.10:g.27380671C>T	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Phe292Ile	rs1228088722	missense variant	-	NC_000011.10:g.27380668A>T	TOPMed
LGR4	Q9BXB1	p.Asn294Ser	rs369372318	missense variant	-	NC_000011.10:g.27380661T>C	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu295Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27380659A>C	NCI-TCGA
LGR4	Q9BXB1	p.Asp297Gly	rs1484342153	missense variant	-	NC_000011.10:g.27380652T>C	TOPMed
LGR4	Q9BXB1	p.Asp297Asn	rs1219046482	missense variant	-	NC_000011.10:g.27380653C>T	gnomAD
LGR4	Q9BXB1	p.Leu298Phe	rs1277504427	missense variant	-	NC_000011.10:g.27380650G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile303Thr	rs756007479	missense variant	-	NC_000011.10:g.27380334A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Arg304Cys	rs200212084	missense variant	-	NC_000011.10:g.27380332G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Arg304Leu	rs780334452	missense variant	-	NC_000011.10:g.27380331C>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg304His	rs780334452	missense variant	-	NC_000011.10:g.27380331C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Met308Val	rs374994542	missense variant	-	NC_000011.10:g.27380320T>C	ESP,ExAC,gnomAD
LGR4	Q9BXB1	p.Met308Ile	rs1330154221	missense variant	-	NC_000011.10:g.27380318C>T	gnomAD
LGR4	Q9BXB1	p.Gln310Arg	rs750714025	missense variant	-	NC_000011.10:g.27380313T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gln310Leu	rs750714025	missense variant	-	NC_000011.10:g.27380313T>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gln311His	rs138266389	missense variant	-	NC_000011.10:g.27380309C>G	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Asn314Asp	rs762186717	missense variant	-	NC_000011.10:g.27380302T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn314Ser	rs375937843	missense variant	-	NC_000011.10:g.27380301T>C	TOPMed
LGR4	Q9BXB1	p.Thr316Lys	rs558229406	missense variant	-	NC_000011.10:g.27380295G>T	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr316Ala	rs754184739	missense variant	-	NC_000011.10:g.27380296T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr316Ile	rs558229406	missense variant	-	NC_000011.10:g.27380295G>A	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly317Arg	rs1401557837	missense variant	-	NC_000011.10:g.27380293C>G	TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly317Arg	rs1401557837	missense variant	-	NC_000011.10:g.27380293C>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly317GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.27380292C>-	NCI-TCGA
LGR4	Q9BXB1	p.Thr318Ala	rs761102295	missense variant	-	NC_000011.10:g.27380290T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr318Ile	rs1464796752	missense variant	-	NC_000011.10:g.27380289G>A	gnomAD
LGR4	Q9BXB1	p.Val319Ile	rs1039899418	missense variant	-	NC_000011.10:g.27380287C>T	TOPMed
LGR4	Q9BXB1	p.Val319Ala	rs1377311132	missense variant	-	NC_000011.10:g.27380286A>G	gnomAD
LGR4	Q9BXB1	p.His320Gln	rs1199783981	missense variant	-	NC_000011.10:g.27380282G>C	gnomAD
LGR4	Q9BXB1	p.His320Asp	rs1456342449	missense variant	-	NC_000011.10:g.27380284G>C	TOPMed
LGR4	Q9BXB1	p.Leu321Val	rs1458708142	missense variant	-	NC_000011.10:g.27380281G>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser323Arg	rs575879732	missense variant	-	NC_000011.10:g.27380273A>T	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Ser323Cys	rs774968337	missense variant	-	NC_000011.10:g.27380275T>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser323Asn	rs546206909	missense variant	-	NC_000011.10:g.27380274C>T	1000Genomes,TOPMed
LGR4	Q9BXB1	p.Thr327Ala	rs75496259	missense variant	-	NC_000011.10:g.27378761T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly328Ser	COSM3446566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27378758C>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Thr329Ala	rs371742671	missense variant	-	NC_000011.10:g.27378755T>C	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Lys330Gln	rs770556748	missense variant	-	NC_000011.10:g.27378752T>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Lys330Glu	rs770556748	missense variant	-	NC_000011.10:g.27378752T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile334Leu	rs1212652633	missense variant	-	NC_000011.10:g.27378740T>G	gnomAD
LGR4	Q9BXB1	p.Pro335Arg	rs202211842	missense variant	-	NC_000011.10:g.27378736G>C	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Pro335Ser	rs370470269	missense variant	-	NC_000011.10:g.27378737G>A	ESP,ExAC,gnomAD
LGR4	Q9BXB1	p.Cys339Tyr	rs1240276307	missense variant	-	NC_000011.10:g.27378724C>T	gnomAD
LGR4	Q9BXB1	p.Lys343Arg	rs769513710	missense variant	-	NC_000011.10:g.27378712T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Lys343Asn	rs1041005797	missense variant	-	NC_000011.10:g.27378711C>G	TOPMed
LGR4	Q9BXB1	p.Met344Ile	rs748075465	missense variant	-	NC_000011.10:g.27378708C>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu345Pro	rs1340314554	missense variant	-	NC_000011.10:g.27378706A>G	gnomAD
LGR4	Q9BXB1	p.Arg346Thr	rs538854301	missense variant	-	NC_000011.10:g.27378703C>G	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Arg346Ser	rs1296666966	missense variant	-	NC_000011.10:g.27378702C>G	TOPMed
LGR4	Q9BXB1	p.Thr347Ala	rs1416944136	missense variant	-	NC_000011.10:g.27378701T>C	gnomAD
LGR4	Q9BXB1	p.Thr347Ile	rs1358902317	missense variant	-	NC_000011.10:g.27378700G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu350Val	COSM4403245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27377219A>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Leu350Met	rs764964258	missense variant	-	NC_000011.10:g.27377219A>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn353Ser	rs1194018717	missense variant	-	NC_000011.10:g.27377209T>C	gnomAD
LGR4	Q9BXB1	p.Asn354Ser	rs1476182391	missense variant	-	NC_000011.10:g.27377206T>C	gnomAD
LGR4	Q9BXB1	p.Ile355Met	rs1451630257	missense variant	-	NC_000011.10:g.27377202T>C	gnomAD
LGR4	Q9BXB1	p.Ile355Val	rs1220191630	missense variant	-	NC_000011.10:g.27377204T>C	gnomAD
LGR4	Q9BXB1	p.Ile355MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.27377201_27377202TT>-	NCI-TCGA
LGR4	Q9BXB1	p.Phe361Cys	rs1216062587	missense variant	-	NC_000011.10:g.27377185A>C	gnomAD
LGR4	Q9BXB1	p.Gly363Cys	rs117543292	missense variant	-	NC_000011.10:g.27377180C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Cys364Ter	COSM3791426	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27377175G>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.His365Tyr	rs1215465385	missense variant	-	NC_000011.10:g.27377174G>A	gnomAD
LGR4	Q9BXB1	p.Ala366Gly	rs747002151	missense variant	-	NC_000011.10:g.27377170G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu367Val	rs1480856924	missense variant	-	NC_000011.10:g.27377168G>C	TOPMed
LGR4	Q9BXB1	p.Glu368Gly	rs1402442768	missense variant	-	NC_000011.10:g.27377164T>C	TOPMed
LGR4	Q9BXB1	p.Ile370Phe	rs1435873921	missense variant	-	NC_000011.10:g.27377159T>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile370Leu	rs1435873921	missense variant	-	NC_000011.10:g.27377159T>G	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser371Tyr	COSM2113372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27376368G>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ser371Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27376368G>A	NCI-TCGA
LGR4	Q9BXB1	p.Arg374Cys	rs140395327	missense variant	-	NC_000011.10:g.27376360G>A	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg374His	rs371443871	missense variant	-	NC_000011.10:g.27376359C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg374Leu	rs371443871	missense variant	-	NC_000011.10:g.27376359C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Lys381Thr	rs1298639354	missense variant	-	NC_000011.10:g.27376338T>G	gnomAD
LGR4	Q9BXB1	p.Glu382Lys	rs947766444	missense variant	-	NC_000011.10:g.27376336C>T	TOPMed
LGR4	Q9BXB1	p.Glu382Gly	rs761570797	missense variant	-	NC_000011.10:g.27376335T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Phe385Tyr	rs1396454317	missense variant	-	NC_000011.10:g.27376326A>T	gnomAD
LGR4	Q9BXB1	p.Gly387Asp	rs760631826	missense variant	-	NC_000011.10:g.27376320C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser390Phe	COSM3446565	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27376311G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ser390Pro	rs1178256108	missense variant	-	NC_000011.10:g.27376312A>G	gnomAD
LGR4	Q9BXB1	p.Arg392Ser	rs762903356	missense variant	-	NC_000011.10:g.27376304C>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Asp395His	rs1279376863	missense variant	-	NC_000011.10:g.27374045C>G	TOPMed
LGR4	Q9BXB1	p.Leu396Val	rs1259900314	missense variant	-	NC_000011.10:g.27374042G>C	gnomAD
LGR4	Q9BXB1	p.Arg398Lys	rs773272289	missense variant	-	NC_000011.10:g.27374035C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile401Met	rs769897714	missense variant	-	NC_000011.10:g.27374025T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.His402Gln	rs761998521	missense variant	-	NC_000011.10:g.27374022A>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Glu403Lys	rs1468374007	missense variant	-	NC_000011.10:g.27374021C>T	TOPMed
LGR4	Q9BXB1	p.Ile404Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27374018T>C	NCI-TCGA
LGR4	Q9BXB1	p.His405Tyr	rs1211912065	missense variant	-	NC_000011.10:g.27374015G>A	TOPMed
LGR4	Q9BXB1	p.Ser406Cys	rs1311875445	missense variant	-	NC_000011.10:g.27374012T>A	gnomAD
LGR4	Q9BXB1	p.Arg407Gly	rs1233701317	missense variant	-	NC_000011.10:g.27374009T>C	gnomAD
LGR4	Q9BXB1	p.Ala408Val	rs776781529	missense variant	-	NC_000011.10:g.27374005G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala410Gly	rs768951554	missense variant	-	NC_000011.10:g.27373999G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala410Thr	rs930207138	missense variant	-	NC_000011.10:g.27374000C>T	TOPMed
LGR4	Q9BXB1	p.Thr411Ala	rs747267765	missense variant	-	NC_000011.10:g.27373997T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu412Arg	rs370534114	missense variant	-	NC_000011.10:g.27373993A>C	ESP,ExAC,gnomAD
LGR4	Q9BXB1	p.Gly413Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27373990C>T	NCI-TCGA
LGR4	Q9BXB1	p.Pro414Leu	rs772444344	missense variant	-	NC_000011.10:g.27373987G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Pro414Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27373988G>A	NCI-TCGA
LGR4	Q9BXB1	p.Asn417Asp	rs1455875404	missense variant	-	NC_000011.10:g.27373979T>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu418Arg	COSM687628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27373975A>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Leu418Val	rs778535535	missense variant	-	NC_000011.10:g.27373976G>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val420Leu	rs775713650	missense variant	-	NC_000011.10:g.27373672C>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val420Ile	rs775713650	missense variant	-	NC_000011.10:g.27373672C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser421Gly	rs552191763	missense variant	-	NC_000011.10:g.27373669T>C	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Asn423Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27373662T>A	NCI-TCGA
LGR4	Q9BXB1	p.Thr426Ser	rs1172779197	missense variant	-	NC_000011.10:g.27373653G>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr426Asn	rs1172779197	missense variant	-	NC_000011.10:g.27373653G>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr430Met	rs369982748	missense variant	-	NC_000011.10:g.27373641G>A	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Glu431Lys	rs777443017	missense variant	-	NC_000011.10:g.27373639C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Gly432Ser	rs372277318	missense variant	-	NC_000011.10:g.27373636C>T	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly432Cys	rs372277318	missense variant	-	NC_000011.10:g.27373636C>A	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu433Met	COSM4032213	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27373633G>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Leu433Pro	rs1236217428	missense variant	-	NC_000011.10:g.27373632A>G	gnomAD
LGR4	Q9BXB1	p.Gln438His	rs769672645	missense variant	-	NC_000011.10:g.27373616T>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gln438Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27373617T>C	NCI-TCGA
LGR4	Q9BXB1	p.Asn444Ser	rs754750270	missense variant	-	NC_000011.10:g.27373599T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Lys448Asn	rs1442384003	missense variant	-	NC_000011.10:g.27373586T>G	gnomAD
LGR4	Q9BXB1	p.Ala450Val	rs766236725	missense variant	-	NC_000011.10:g.27373581G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala450GlyPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000011.10:g.27373581_27373582insATCTCTGTTATCTAAACTCATC	NCI-TCGA
LGR4	Q9BXB1	p.Ala452Thr	rs564080700	missense variant	-	NC_000011.10:g.27373576C>T	gnomAD
LGR4	Q9BXB1	p.Ala452Val	rs145733785	missense variant	-	NC_000011.10:g.27373575G>A	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala452Pro	rs564080700	missense variant	-	NC_000011.10:g.27373576C>G	gnomAD
LGR4	Q9BXB1	p.Ala452Gly	rs145733785	missense variant	-	NC_000011.10:g.27373575G>C	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Asp455Tyr	rs764299872	missense variant	-	NC_000011.10:g.27373567C>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Asp455Val	rs1464717098	missense variant	-	NC_000011.10:g.27373566T>A	gnomAD
LGR4	Q9BXB1	p.Leu459Val	rs1455612015	missense variant	-	NC_000011.10:g.27373555G>C	gnomAD
LGR4	Q9BXB1	p.Arg460Ser	rs1396758062	missense variant	-	NC_000011.10:g.27372398C>A	TOPMed
LGR4	Q9BXB1	p.Ser461Phe	rs1243096719	missense variant	-	NC_000011.10:g.27372396G>A	gnomAD
LGR4	Q9BXB1	p.Val464Glu	rs145483270	missense variant	-	NC_000011.10:g.27372387A>T	ESP,TOPMed
LGR4	Q9BXB1	p.Pro465Ser	rs1365671208	missense variant	-	NC_000011.10:g.27372385G>A	TOPMed
LGR4	Q9BXB1	p.Pro465Thr	rs1365671208	missense variant	-	NC_000011.10:g.27372385G>T	TOPMed
LGR4	Q9BXB1	p.Gln469Glu	rs1317731692	missense variant	-	NC_000011.10:g.27372373G>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Gln469His	rs1288731731	missense variant	-	NC_000011.10:g.27372371C>G	TOPMed
LGR4	Q9BXB1	p.Cys471Phe	rs770231477	missense variant	-	NC_000011.10:g.27372366C>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Cys471Tyr	rs770231477	missense variant	-	NC_000011.10:g.27372366C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala472Thr	COSM1353335	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27372364C>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Phe473Tyr	COSM4032212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27372360A>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Trp474Leu	rs1387079528	missense variant	-	NC_000011.10:g.27372357C>A	gnomAD
LGR4	Q9BXB1	p.Gly475Ser	rs761318340	missense variant	-	NC_000011.10:g.27372355C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser478Cys	rs768283736	missense variant	-	NC_000011.10:g.27372345G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser478Phe	rs768283736	missense variant	-	NC_000011.10:g.27372345G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Tyr479His	rs185732314	missense variant	-	NC_000011.10:g.27372343A>G	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Tyr479Cys	rs779793661	missense variant	-	NC_000011.10:g.27372342T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala480Gly	rs12284579	missense variant	-	NC_000011.10:g.27372339G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala480Val	rs12284579	missense variant	-	NC_000011.10:g.27372339G>A	UniProt,dbSNP
LGR4	Q9BXB1	p.Ala480Val	VAR_044530	missense variant	-	NC_000011.10:g.27372339G>A	UniProt
LGR4	Q9BXB1	p.Ala480Val	rs12284579	missense variant	-	NC_000011.10:g.27372339G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala480Thr	rs1448172162	missense variant	-	NC_000011.10:g.27372340C>T	gnomAD
LGR4	Q9BXB1	p.Ala480Glu	rs12284579	missense variant	-	NC_000011.10:g.27372339G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Asn481Asp	rs1244635679	missense variant	-	NC_000011.10:g.27372337T>C	TOPMed
LGR4	Q9BXB1	p.Asn481Tyr	rs1244635679	missense variant	-	NC_000011.10:g.27372337T>A	TOPMed
LGR4	Q9BXB1	p.Asn483Ile	rs778872167	missense variant	-	NC_000011.10:g.27372330T>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr484Ile	rs757148300	missense variant	-	NC_000011.10:g.27372327G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Glu485Gly	rs1252958677	missense variant	-	NC_000011.10:g.27372324T>C	TOPMed
LGR4	Q9BXB1	p.Glu485Lys	COSM6132156	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27372325C>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Asp486Glu	rs1472577397	missense variant	-	NC_000011.10:g.27372320A>T	TOPMed
LGR4	Q9BXB1	p.Asp486Asn	rs1473460554	missense variant	-	NC_000011.10:g.27372322C>T	gnomAD
LGR4	Q9BXB1	p.Asn487Ser	rs752767724	missense variant	-	NC_000011.10:g.27372318T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu489His	rs781189924	missense variant	-	NC_000011.10:g.27372312A>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gln490His	rs1043026320	missense variant	-	NC_000011.10:g.27372308C>G	TOPMed
LGR4	Q9BXB1	p.Asp491Gly	rs1328246542	missense variant	-	NC_000011.10:g.27372306T>C	gnomAD
LGR4	Q9BXB1	p.His492Asn	rs766725576	missense variant	-	NC_000011.10:g.27372304G>T	ExAC,gnomAD
LGR4	Q9BXB1	p.His492Tyr	rs766725576	missense variant	-	NC_000011.10:g.27372304G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser493Arg	rs750754672	missense variant	-	NC_000011.10:g.27372299A>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser493Ile	rs763366518	missense variant	-	NC_000011.10:g.27372300C>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser493Asn	rs763366518	missense variant	-	NC_000011.10:g.27372300C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala495Ser	rs1418375233	missense variant	-	NC_000011.10:g.27372295C>A	gnomAD
LGR4	Q9BXB1	p.Gln496Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27372291T>G	NCI-TCGA
LGR4	Q9BXB1	p.Thr500Ile	rs759170982	missense variant	-	NC_000011.10:g.27371695G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala501Thr	rs774195086	missense variant	-	NC_000011.10:g.27371693C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser508Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27371670G>T	NCI-TCGA
LGR4	Q9BXB1	p.Thr509Ala	rs1376741369	missense variant	-	NC_000011.10:g.27371669T>C	gnomAD
LGR4	Q9BXB1	p.Thr509Ser	rs944266223	missense variant	-	NC_000011.10:g.27371668G>C	gnomAD
LGR4	Q9BXB1	p.Asn512Ser	rs1208264410	missense variant	-	NC_000011.10:g.27371659T>C	TOPMed
LGR4	Q9BXB1	p.His515Arg	rs773240098	missense variant	-	NC_000011.10:g.27371650T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser516Asn	rs1178165436	missense variant	-	NC_000011.10:g.27371647C>T	gnomAD
LGR4	Q9BXB1	p.Gln517Glu	rs1471331772	missense variant	-	NC_000011.10:g.27371645G>C	gnomAD
LGR4	Q9BXB1	p.Ile520Asn	rs1033087667	missense variant	-	NC_000011.10:g.27371635A>T	TOPMed
LGR4	Q9BXB1	p.His521Tyr	rs1210398305	missense variant	-	NC_000011.10:g.27371633G>A	gnomAD
LGR4	Q9BXB1	p.Cys522Tyr	rs747024844	missense variant	-	NC_000011.10:g.27371629C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr523Ala	rs780336469	missense variant	-	NC_000011.10:g.27371627T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr526Arg	rs1284806866	missense variant	-	NC_000011.10:g.27371617G>C	gnomAD
LGR4	Q9BXB1	p.Gly527Val	rs1164664989	missense variant	-	NC_000011.10:g.27369143C>A	gnomAD
LGR4	Q9BXB1	p.Ala528Ser	rs1462249348	missense variant	-	NC_000011.10:g.27369141C>A	gnomAD
LGR4	Q9BXB1	p.Ala528Asp	rs1370470333	missense variant	-	NC_000011.10:g.27369140G>T	gnomAD
LGR4	Q9BXB1	p.Ala528Val	rs1370470333	missense variant	-	NC_000011.10:g.27369140G>A	gnomAD
LGR4	Q9BXB1	p.Phe529Leu	rs1293512133	missense variant	-	NC_000011.10:g.27369136A>T	gnomAD
LGR4	Q9BXB1	p.Lys530Gln	rs1168565132	missense variant	-	NC_000011.10:g.27369135T>G	gnomAD
LGR4	Q9BXB1	p.Pro531His	rs747539328	missense variant	-	NC_000011.10:g.27369131G>T	gnomAD
LGR4	Q9BXB1	p.Pro531Leu	rs747539328	missense variant	-	NC_000011.10:g.27369131G>A	gnomAD
LGR4	Q9BXB1	p.Glu533Lys	rs772091571	missense variant	-	NC_000011.10:g.27369126C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu536Val	rs778935349	missense variant	-	NC_000011.10:g.27369117G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Gly537Ala	rs1252250185	missense variant	-	NC_000011.10:g.27369113C>G	gnomAD
LGR4	Q9BXB1	p.Met540Val	rs778459302	missense variant	-	NC_000011.10:g.27369105T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg542His	rs200626048	missense variant	-	NC_000011.10:g.27369098C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg542Leu	rs200626048	missense variant	-	NC_000011.10:g.27369098C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val545Leu	rs1399237711	missense variant	-	NC_000011.10:g.27369090C>A	TOPMed
LGR4	Q9BXB1	p.Phe547Leu	COSM926128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27369082G>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Val551Asp	rs780736159	missense variant	-	NC_000011.10:g.27369071A>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Val551Ala	rs780736159	missense variant	-	NC_000011.10:g.27369071A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn556Ser	rs754383451	missense variant	-	NC_000011.10:g.27369056T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val559Phe	rs1369470457	missense variant	-	NC_000011.10:g.27369048C>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu561Val	rs751116300	missense variant	-	NC_000011.10:g.27369042A>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu561Ile	rs751116300	missense variant	-	NC_000011.10:g.27369042A>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr562Lys	rs538451022	missense variant	-	NC_000011.10:g.27369038G>T	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr562Ala	rs952168578	missense variant	-	NC_000011.10:g.27369039T>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr563Ala	rs762745985	missense variant	-	NC_000011.10:g.27369036T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Phe564Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27369033A>C	NCI-TCGA
LGR4	Q9BXB1	p.Ala565Thr	rs750215283	missense variant	-	NC_000011.10:g.27369030C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala565Glu	rs1170594960	missense variant	-	NC_000011.10:g.27369029G>T	gnomAD
LGR4	Q9BXB1	p.Pro571Ser	rs765192487	missense variant	-	NC_000011.10:g.27369012G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser572Leu	rs761830490	missense variant	-	NC_000011.10:g.27369008G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser573Phe	COSM466702	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27369005G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Lys574Glu	rs768642910	missense variant	-	NC_000011.10:g.27369003T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Phe576Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368996A>C	NCI-TCGA
LGR4	Q9BXB1	p.Gly578Ser	rs1462234311	missense variant	-	NC_000011.10:g.27368991C>T	TOPMed
LGR4	Q9BXB1	p.Leu579Ser	rs1183821953	missense variant	-	NC_000011.10:g.27368987A>G	TOPMed
LGR4	Q9BXB1	p.Leu579Phe	rs759494168	missense variant	-	NC_000011.10:g.27368986C>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile580Leu	rs774510969	missense variant	-	NC_000011.10:g.27368985T>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser581Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368981G>T	NCI-TCGA
LGR4	Q9BXB1	p.Val582Leu	rs749550574	missense variant	-	NC_000011.10:g.27368979C>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val582Ala	rs778104650	missense variant	-	NC_000011.10:g.27368978A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Val582Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.27368979_27368980insAGAAATCA	NCI-TCGA
LGR4	Q9BXB1	p.Ser583Pro	rs1462926935	missense variant	-	NC_000011.10:g.27368976A>G	TOPMed
LGR4	Q9BXB1	p.Asn584Asp	rs781480626	missense variant	-	NC_000011.10:g.27368973T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn584Tyr	rs781480626	missense variant	-	NC_000011.10:g.27368973T>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn584His	rs781480626	missense variant	-	NC_000011.10:g.27368973T>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Met587Val	COSM1353334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368964T>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Met587Ile	rs1397506269	missense variant	-	NC_000011.10:g.27368962C>A	gnomAD
LGR4	Q9BXB1	p.Gly588Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368960C>T	NCI-TCGA
LGR4	Q9BXB1	p.Gly592Asp	COSM926127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368948C>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ile593Asn	rs755535013	missense variant	-	NC_000011.10:g.27368945A>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr595Ile	rs369900849	missense variant	-	NC_000011.10:g.27368939G>A	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr595Ser	rs369900849	missense variant	-	NC_000011.10:g.27368939G>C	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Phe596Ser	rs758122005	missense variant	-	NC_000011.10:g.27368936A>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Phe596Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368936A>T	NCI-TCGA
LGR4	Q9BXB1	p.Asp598Glu	rs12291757	missense variant	-	NC_000011.10:g.27368929A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Trp602Ser	rs761634295	missense variant	-	NC_000011.10:g.27368918C>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Trp602Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368917C>A	NCI-TCGA
LGR4	Q9BXB1	p.Gly603Ser	rs377568358	missense variant	-	NC_000011.10:g.27368916C>T	ESP,ExAC,TOPMed
LGR4	Q9BXB1	p.Arg604Gly	rs1419401950	missense variant	-	NC_000011.10:g.27368913T>C	gnomAD
LGR4	Q9BXB1	p.Ala606Thr	rs760715826	missense variant	-	NC_000011.10:g.27368907C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala606Val	COSM3809026	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368906G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ala606Pro	rs760715826	missense variant	-	NC_000011.10:g.27368907C>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Glu607Asp	rs373408874	missense variant	-	NC_000011.10:g.27368902T>G	ESP,ExAC,gnomAD
LGR4	Q9BXB1	p.Gly609Asp	rs1383595331	missense variant	-	NC_000011.10:g.27368897C>T	gnomAD
LGR4	Q9BXB1	p.Ile610Leu	rs763145885	missense variant	-	NC_000011.10:g.27368895T>G	ExAC
LGR4	Q9BXB1	p.Trp611Arg	rs773360974	missense variant	-	NC_000011.10:g.27368892A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr614Ser	rs1347785544	missense variant	-	NC_000011.10:g.27368883T>A	gnomAD
LGR4	Q9BXB1	p.Gly615Ser	rs770003664	missense variant	-	NC_000011.10:g.27368880C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser616Asn	rs1336700032	missense variant	-	NC_000011.10:g.27368876C>T	gnomAD
LGR4	Q9BXB1	p.Ser616Gly	rs748467080	missense variant	-	NC_000011.10:g.27368877T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly617Ser	rs1290519959	missense variant	-	NC_000011.10:g.27368874C>T	gnomAD
LGR4	Q9BXB1	p.Lys619Arg	rs777106298	missense variant	-	NC_000011.10:g.27368867T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Lys619Asn	rs769015281	missense variant	-	NC_000011.10:g.27368866T>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Val620Ala	rs779418604	missense variant	-	NC_000011.10:g.27368864A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Val620Leu	rs560180132	missense variant	-	NC_000011.10:g.27368865C>G	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Phe623Leu	rs757925752	missense variant	-	NC_000011.10:g.27368856A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala625Pro	rs1157897556	missense variant	-	NC_000011.10:g.27368850C>G	gnomAD
LGR4	Q9BXB1	p.Ala625Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368849G>A	NCI-TCGA
LGR4	Q9BXB1	p.Val626Leu	rs745376796	missense variant	-	NC_000011.10:g.27368847C>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val626Phe	rs745376796	missense variant	-	NC_000011.10:g.27368847C>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val626Ala	rs1262192090	missense variant	-	NC_000011.10:g.27368846A>G	TOPMed
LGR4	Q9BXB1	p.Ser628Phe	rs778668653	missense variant	-	NC_000011.10:g.27368840G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Glu630Lys	rs756992406	missense variant	-	NC_000011.10:g.27368835C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Ile633Val	rs935099252	missense variant	-	NC_000011.10:g.27368826T>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala639Val	rs551120554	missense variant	-	NC_000011.10:g.27368807G>A	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr640Ala	rs755999472	missense variant	-	NC_000011.10:g.27368805T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr640Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368805T>G	NCI-TCGA
LGR4	Q9BXB1	p.Glu642Lys	rs150703196	missense variant	-	NC_000011.10:g.27368799C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg643Gly	rs762950919	missense variant	-	NC_000011.10:g.27368796T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Arg643Ser	rs773307093	missense variant	-	NC_000011.10:g.27368794T>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu645Ile	rs765427868	missense variant	-	NC_000011.10:g.27368790A>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu645PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.27368788_27368789insA	NCI-TCGA
LGR4	Q9BXB1	p.Ser646Tyr	rs762137826	missense variant	-	NC_000011.10:g.27368786G>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Asp649His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368778C>G	NCI-TCGA
LGR4	Q9BXB1	p.Ile650Thr	rs562648114	missense variant	-	NC_000011.10:g.27368774A>G	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile650Val	rs1324758058	missense variant	-	NC_000011.10:g.27368775T>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Met651Ile	COSM4816822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368770C>G	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Met651Ile	rs1185231929	missense variant	-	NC_000011.10:g.27368770C>T	gnomAD
LGR4	Q9BXB1	p.Asn653Ile	rs747349225	missense variant	-	NC_000011.10:g.27368765T>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Gly654Arg	rs1405683740	missense variant	-	NC_000011.10:g.27368763C>T	TOPMed
LGR4	Q9BXB1	p.Ser656Arg	COSM428875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368755G>T	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ser656Asn	rs981837753	missense variant	-	NC_000011.10:g.27368756C>T	TOPMed
LGR4	Q9BXB1	p.Asn657His	COSM687630	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368754T>G	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Asn657Ser	rs772737034	missense variant	-	NC_000011.10:g.27368753T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn657Thr	rs772737034	missense variant	-	NC_000011.10:g.27368753T>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu659GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.27368720_27368748AAAAGGGCAGCAACCCGGAACTGTTTGAG>-	NCI-TCGA
LGR4	Q9BXB1	p.Lys660Gln	rs142006990	missense variant	-	NC_000011.10:g.27368745T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Lys660Arg	rs1164605137	missense variant	-	NC_000011.10:g.27368744T>C	gnomAD
LGR4	Q9BXB1	p.Arg663Trp	rs749034512	missense variant	-	NC_000011.10:g.27368736G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Arg663Gln	rs200625629	missense variant	-	NC_000011.10:g.27368735C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val664Phe	rs916527662	missense variant	-	NC_000011.10:g.27368733C>A	TOPMed
LGR4	Q9BXB1	p.Ala666ProPheSerTerUnk	COSM1561447	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27368727C>-	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Leu667Phe	rs1250405937	missense variant	-	NC_000011.10:g.27368724G>A	gnomAD
LGR4	Q9BXB1	p.Leu667Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368723A>C	NCI-TCGA
LGR4	Q9BXB1	p.Gly672Ala	rs148147363	missense variant	-	NC_000011.10:g.27368708C>G	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr674Ile	rs1230225322	missense variant	-	NC_000011.10:g.27368702G>A	gnomAD
LGR4	Q9BXB1	p.Val675Ile	rs1229048489	missense variant	-	NC_000011.10:g.27368700C>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly677Ser	rs750474195	missense variant	-	NC_000011.10:g.27368694C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Cys678Tyr	rs761930240	missense variant	-	NC_000011.10:g.27368690C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Phe679Val	COSM257287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368688A>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Pro680Leu	rs776857032	missense variant	-	NC_000011.10:g.27368684G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.His683Arg	rs1323778457	missense variant	-	NC_000011.10:g.27368675T>C	gnomAD
LGR4	Q9BXB1	p.Arg684Thr	rs776019185	missense variant	-	NC_000011.10:g.27368672C>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg684Gly	rs7125959	missense variant	-	NC_000011.10:g.27368673T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly685Arg	rs1204908530	missense variant	-	NC_000011.10:g.27368670C>T	TOPMed
LGR4	Q9BXB1	p.Glu686Gly	rs1407876071	missense variant	-	NC_000011.10:g.27368666T>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Glu686Lys	rs772683855	missense variant	-	NC_000011.10:g.27368667C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Tyr687Cys	rs760160076	missense variant	-	NC_000011.10:g.27368663T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Pro691Thr	rs1015071415	missense variant	-	NC_000011.10:g.27368652G>T	TOPMed
LGR4	Q9BXB1	p.Pro691Ser	rs1015071415	missense variant	-	NC_000011.10:g.27368652G>A	TOPMed
LGR4	Q9BXB1	p.Leu692Phe	rs373705614	missense variant	-	NC_000011.10:g.27368649G>A	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro695Leu	COSM3869051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368639G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Glu700Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368624T>C	NCI-TCGA
LGR4	Q9BXB1	p.Thr701Met	rs369897268	missense variant	-	NC_000011.10:g.27368621G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro702Ala	COSM6068296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368619G>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Pro702Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368618G>A	NCI-TCGA
LGR4	Q9BXB1	p.Ser703Pro	rs1404076351	missense variant	-	NC_000011.10:g.27368616A>G	TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly705Glu	rs186371194	missense variant	-	NC_000011.10:g.27368609C>T	1000Genomes
LGR4	Q9BXB1	p.Thr707Ala	rs545089505	missense variant	-	NC_000011.10:g.27368604T>C	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Val708Leu	rs757296851	missense variant	-	NC_000011.10:g.27368601C>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Thr709Met	rs34717439	missense variant	-	NC_000011.10:g.27368597G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Thr709Met	rs34717439	missense variant	-	NC_000011.10:g.27368597G>A	UniProt,dbSNP
LGR4	Q9BXB1	p.Thr709Met	VAR_044532	missense variant	-	NC_000011.10:g.27368597G>A	UniProt
LGR4	Q9BXB1	p.Leu710Ser	rs1307336368	missense variant	-	NC_000011.10:g.27368594A>G	TOPMed
LGR4	Q9BXB1	p.Asn714Ser	rs1238836448	missense variant	-	NC_000011.10:g.27368582T>C	TOPMed
LGR4	Q9BXB1	p.Asn714Tyr	rs1276403434	missense variant	-	NC_000011.10:g.27368583T>A	gnomAD
LGR4	Q9BXB1	p.Ser715Pro	rs1353585591	missense variant	-	NC_000011.10:g.27368580A>G	gnomAD
LGR4	Q9BXB1	p.Ser715Leu	rs1329094630	missense variant	-	NC_000011.10:g.27368579G>A	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala717Gly	rs774938975	missense variant	-	NC_000011.10:g.27368573G>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Leu719Val	COSM1353332	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368568A>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Leu720Ile	rs1434646286	missense variant	-	NC_000011.10:g.27368565A>T	gnomAD
LGR4	Q9BXB1	p.Met721Thr	rs1193305961	missense variant	-	NC_000011.10:g.27368561A>G	gnomAD
LGR4	Q9BXB1	p.Ala722Gly	COSM3446563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368558G>C	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Val723Asp	rs74893278	missense variant	-	NC_000011.10:g.27368555A>T	gnomAD
LGR4	Q9BXB1	p.Val723Gly	rs74893278	missense variant	-	NC_000011.10:g.27368555A>C	gnomAD
LGR4	Q9BXB1	p.Val723Ile	rs762481038	missense variant	-	NC_000011.10:g.27368556C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val723Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368556C>A	NCI-TCGA
LGR4	Q9BXB1	p.Lys727Arg	rs769460322	missense variant	-	NC_000011.10:g.27368543T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Lys727Asn	rs2447997	missense variant	-	NC_000011.10:g.27368542T>A	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Tyr729His	rs768385937	missense variant	-	NC_000011.10:g.27368538A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn731His	rs1157030509	missense variant	-	NC_000011.10:g.27368532T>G	TOPMed
LGR4	Q9BXB1	p.Lys734Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.27368523T>A	NCI-TCGA
LGR4	Q9BXB1	p.Ser738Pro	rs1386892600	missense variant	-	NC_000011.10:g.27368511A>G	TOPMed
LGR4	Q9BXB1	p.Ser743Cys	rs780003296	missense variant	-	NC_000011.10:g.27368495G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Met745Arg	rs1311778017	missense variant	-	NC_000011.10:g.27368489A>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile746Thr	rs758290426	missense variant	-	NC_000011.10:g.27368486A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.His748Tyr	rs1325634609	missense variant	-	NC_000011.10:g.27368481G>A	gnomAD
LGR4	Q9BXB1	p.Ala750Thr	rs149204548	missense variant	-	NC_000011.10:g.27368475C>T	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Phe754Leu	rs1160295111	missense variant	-	NC_000011.10:g.27368463A>G	gnomAD
LGR4	Q9BXB1	p.Asn756Ser	rs753024425	missense variant	-	NC_000011.10:g.27368456T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Ile758Val	rs759910528	missense variant	-	NC_000011.10:g.27368451T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Cys761Ser	rs752000561	missense variant	-	NC_000011.10:g.27368442A>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Pro762Leu	rs1239179764	missense variant	-	NC_000011.10:g.27368438G>A	gnomAD
LGR4	Q9BXB1	p.Ala764Val	rs556032916	missense variant	-	NC_000011.10:g.27368432G>A	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Phe766Ser	rs1392142756	missense variant	-	NC_000011.10:g.27368426A>G	gnomAD
LGR4	Q9BXB1	p.Ser767Leu	COSM4479183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368423G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ser767HisPheSerTerUnk	COSM6028099	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27368424A>-	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ala769Thr	rs1332250289	missense variant	-	NC_000011.10:g.27368418C>T	gnomAD
LGR4	Q9BXB1	p.Ala769Val	rs1292266485	missense variant	-	NC_000011.10:g.27368417G>A	gnomAD
LGR4	Q9BXB1	p.Pro770Ser	rs1380695935	missense variant	-	NC_000011.10:g.27368415G>A	gnomAD
LGR4	Q9BXB1	p.Ile775Phe	rs1388467483	missense variant	-	NC_000011.10:g.27368400T>A	gnomAD
LGR4	Q9BXB1	p.Ser776Cys	rs1459112932	missense variant	-	NC_000011.10:g.27368396G>C	gnomAD
LGR4	Q9BXB1	p.Ser776Pro	rs1321685126	missense variant	-	NC_000011.10:g.27368397A>G	gnomAD
LGR4	Q9BXB1	p.Ile777Val	rs150174926	missense variant	-	NC_000011.10:g.27368394T>C	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile777Thr	rs1424540145	missense variant	-	NC_000011.10:g.27368393A>G	gnomAD
LGR4	Q9BXB1	p.Pro779Ala	rs746758068	missense variant	-	NC_000011.10:g.27368388G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Pro779Ser	COSM3869050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368388G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Glu780Lys	rs775198460	missense variant	-	NC_000011.10:g.27368385C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ile781Met	rs1466944806	missense variant	-	NC_000011.10:g.27368380T>C	gnomAD
LGR4	Q9BXB1	p.Lys783Arg	rs772014305	missense variant	-	NC_000011.10:g.27368375T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser784Phe	COSM542327	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368372G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Ser784Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368372G>T	NCI-TCGA
LGR4	Q9BXB1	p.Thr786Ile	rs1323083852	missense variant	-	NC_000011.10:g.27368366G>A	gnomAD
LGR4	Q9BXB1	p.Thr786Ser	rs745859717	missense variant	-	NC_000011.10:g.27368367T>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu787Val	rs1292833778	missense variant	-	NC_000011.10:g.27368364G>C	gnomAD
LGR4	Q9BXB1	p.Pro791Gln	rs199575399	missense variant	-	NC_000011.10:g.27368351G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro793Ser	rs1392733766	missense variant	-	NC_000011.10:g.27368346G>A	gnomAD
LGR4	Q9BXB1	p.Ala794Pro	rs140875391	missense variant	-	NC_000011.10:g.27368343C>G	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro798Ser	COSM3446562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368331G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Pro798Ala	rs1351793855	missense variant	-	NC_000011.10:g.27368331G>C	gnomAD
LGR4	Q9BXB1	p.Leu800Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368324A>G	NCI-TCGA
LGR4	Q9BXB1	p.Tyr801His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368322A>G	NCI-TCGA
LGR4	Q9BXB1	p.Val802Ile	rs1390749728	missense variant	-	NC_000011.10:g.27368319C>T	gnomAD
LGR4	Q9BXB1	p.Phe803Ser	rs755269708	missense variant	-	NC_000011.10:g.27368315A>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Phe803SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.27368315A>-	NCI-TCGA
LGR4	Q9BXB1	p.Asn805Lys	rs1252159538	missense variant	-	NC_000011.10:g.27368308G>T	gnomAD
LGR4	Q9BXB1	p.Lys807Asn	rs766724360	missense variant	-	NC_000011.10:g.27368302C>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Asp811Asn	rs1445078206	missense variant	-	NC_000011.10:g.27368292C>T	TOPMed
LGR4	Q9BXB1	p.Trp812Cys	rs1489277706	missense variant	-	NC_000011.10:g.27368287C>G	gnomAD
LGR4	Q9BXB1	p.Lys813Arg	rs758935182	missense variant	-	NC_000011.10:g.27368285T>C	ExAC
LGR4	Q9BXB1	p.Lys816Glu	rs1407541151	missense variant	-	NC_000011.10:g.27368277T>C	gnomAD
LGR4	Q9BXB1	p.Arg817Ter	COSM3375769	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27368274G>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Arg817Gln	rs147618701	missense variant	-	NC_000011.10:g.27368273C>T	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg818His	rs765573173	missense variant	-	NC_000011.10:g.27368270C>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg818Cys	rs765781282	missense variant	-	NC_000011.10:g.27368271G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser823ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.27368256T>-	NCI-TCGA
LGR4	Q9BXB1	p.Ser825Leu	rs1301051782	missense variant	-	NC_000011.10:g.27368249G>A	gnomAD
LGR4	Q9BXB1	p.Ser827Ala	rs1370066317	missense variant	-	NC_000011.10:g.27368244A>C	gnomAD
LGR4	Q9BXB1	p.Ile830Phe	rs1171003651	missense variant	-	NC_000011.10:g.27368235T>A	TOPMed
LGR4	Q9BXB1	p.Ile830Thr	rs763715371	missense variant	-	NC_000011.10:g.27368234A>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Ile830Val	rs1171003651	missense variant	-	NC_000011.10:g.27368235T>C	TOPMed
LGR4	Q9BXB1	p.Ser831Asn	rs760361424	missense variant	-	NC_000011.10:g.27368231C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Tyr842Cys	rs566468357	missense variant	-	NC_000011.10:g.27368198T>C	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Tyr842Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27368198T>A	NCI-TCGA
LGR4	Q9BXB1	p.Asp844His	COSM6132158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368193C>G	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Asp844Asn	rs575009262	missense variant	-	NC_000011.10:g.27368193C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Asp844Gly	rs34804482	missense variant	-	NC_000011.10:g.27368192T>C	UniProt,dbSNP
LGR4	Q9BXB1	p.Asp844Gly	VAR_044533	missense variant	-	NC_000011.10:g.27368192T>C	UniProt
LGR4	Q9BXB1	p.Asp844Gly	rs34804482	missense variant	-	NC_000011.10:g.27368192T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly846Asp	rs777051366	missense variant	-	NC_000011.10:g.27368186C>T	TOPMed
LGR4	Q9BXB1	p.Gly846Ala	rs777051366	missense variant	-	NC_000011.10:g.27368186C>G	TOPMed
LGR4	Q9BXB1	p.Met847Thr	rs532791432	missense variant	-	NC_000011.10:g.27368183A>G	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Met847Leu	rs1434668948	missense variant	-	NC_000011.10:g.27368184T>G	gnomAD
LGR4	Q9BXB1	p.Ser849Leu	rs949238471	missense variant	-	NC_000011.10:g.27368177G>A	gnomAD
LGR4	Q9BXB1	p.His850Arg	rs1208017492	missense variant	-	NC_000011.10:g.27368174T>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.His850Tyr	rs781466769	missense variant	-	NC_000011.10:g.27368175G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gly853Ser	rs747257145	missense variant	-	NC_000011.10:g.27368166C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn854Thr	rs201752835	missense variant	-	NC_000011.10:g.27368162T>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn854Ile	rs201752835	missense variant	-	NC_000011.10:g.27368162T>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Leu855Val	rs1409455521	missense variant	-	NC_000011.10:g.27368160G>C	gnomAD
LGR4	Q9BXB1	p.Thr856Asn	rs1351265659	missense variant	-	NC_000011.10:g.27368156G>T	gnomAD
LGR4	Q9BXB1	p.Cys858Trp	rs750833934	missense variant	-	NC_000011.10:g.27368149G>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Cys858Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.27368149G>T	NCI-TCGA
LGR4	Q9BXB1	p.Asp859Asn	rs765685987	missense variant	-	NC_000011.10:g.27368148C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Glu862Lys	rs757810890	missense variant	-	NC_000011.10:g.27368139C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser863Leu	rs1467453743	missense variant	-	NC_000011.10:g.27368135G>A	gnomAD
LGR4	Q9BXB1	p.Phe864Ser	rs1158073623	missense variant	-	NC_000011.10:g.27368132A>G	gnomAD
LGR4	Q9BXB1	p.Val870Leu	COSM926126	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368115C>G	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.His874Gln	rs1185221127	missense variant	-	NC_000011.10:g.27368101G>T	gnomAD
LGR4	Q9BXB1	p.Pro882Arg	rs907842553	missense variant	-	NC_000011.10:g.27368078G>C	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser888Phe	rs752231840	missense variant	-	NC_000011.10:g.27368060G>A	ExAC
LGR4	Q9BXB1	p.Pro892Ser	rs200364063	missense variant	-	NC_000011.10:g.27368049G>A	1000Genomes,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro892His	rs1484489486	missense variant	-	NC_000011.10:g.27368048G>T	gnomAD
LGR4	Q9BXB1	p.Glu893Gln	COSM926125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27368046C>G	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Gly894Val	rs759208288	missense variant	-	NC_000011.10:g.27368042C>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Trp896Ter	rs920715379	stop gained	-	NC_000011.10:g.27368035C>T	TOPMed
LGR4	Q9BXB1	p.Asp898Asn	rs1263683570	missense variant	-	NC_000011.10:g.27368031C>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Cys899Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.27368026_27368027insCAGTCGGACCAGTAGCCCT	NCI-TCGA
LGR4	Q9BXB1	p.Ser903Ala	rs770966092	missense variant	-	NC_000011.10:g.27368016A>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser903Leu	rs759405820	missense variant	-	NC_000011.10:g.27368015G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala904Asp	rs964878789	missense variant	-	NC_000011.10:g.27368012G>T	TOPMed
LGR4	Q9BXB1	p.His905Tyr	rs768803019	missense variant	-	NC_000011.10:g.27368010G>A	ExAC,gnomAD
LGR4	Q9BXB1	p.Ser906Phe	rs747119729	missense variant	-	NC_000011.10:g.27368006G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ser906Tyr	rs747119729	missense variant	-	NC_000011.10:g.27368006G>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Tyr908Cys	rs780102696	missense variant	-	NC_000011.10:g.27368000T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Asp910Gly	rs772363532	missense variant	-	NC_000011.10:g.27367994T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Glu911Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.27367992C>A	NCI-TCGA
LGR4	Q9BXB1	p.Glu912Gly	rs746198507	missense variant	-	NC_000011.10:g.27367988T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Glu912Ter	COSM4929381	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.27367989C>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Glu912Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27367988T>A	NCI-TCGA
LGR4	Q9BXB1	p.Ser919Gly	rs1188939963	missense variant	-	NC_000011.10:g.27367968T>C	gnomAD
LGR4	Q9BXB1	p.Gln922His	rs778266289	missense variant	-	NC_000011.10:g.27367957C>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Val923Leu	rs956297202	missense variant	-	NC_000011.10:g.27367956C>A	TOPMed
LGR4	Q9BXB1	p.Ala925Thr	rs1246679194	missense variant	-	NC_000011.10:g.27367950C>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala925Asp	rs1208551861	missense variant	-	NC_000011.10:g.27367949G>T	gnomAD
LGR4	Q9BXB1	p.Ala925Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.27367949G>A	NCI-TCGA
LGR4	Q9BXB1	p.Arg928Gln	rs148729565	missense variant	-	NC_000011.10:g.27367940C>T	ESP,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg928Ter	rs1461413137	stop gained	-	NC_000011.10:g.27367941G>A	-
LGR4	Q9BXB1	p.Ala929Val	rs752281610	missense variant	-	NC_000011.10:g.27367937G>A	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala929Asp	rs752281610	missense variant	-	NC_000011.10:g.27367937G>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Tyr932Cys	rs767025843	missense variant	-	NC_000011.10:g.27367928T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Gln933Arg	rs1355837274	missense variant	-	NC_000011.10:g.27367925T>C	gnomAD
LGR4	Q9BXB1	p.Gln933His	rs1218898681	missense variant	-	NC_000011.10:g.27367924C>G	TOPMed
LGR4	Q9BXB1	p.Ser934Asn	rs1284861073	missense variant	-	NC_000011.10:g.27367922C>T	gnomAD
LGR4	Q9BXB1	p.Gly936Arg	rs1276687021	missense variant	-	NC_000011.10:g.27367917C>G	TOPMed
LGR4	Q9BXB1	p.Phe937Tyr	rs1247034391	missense variant	-	NC_000011.10:g.27367913A>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Pro938Ser	rs1324665139	missense variant	-	NC_000011.10:g.27367911G>A	gnomAD
LGR4	Q9BXB1	p.Val940Met	rs751364743	missense variant	-	NC_000011.10:g.27367905C>T	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Val940Leu	rs751364743	missense variant	-	NC_000011.10:g.27367905C>G	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg941Leu	COSM71429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.27367901C>A	NCI-TCGA Cosmic
LGR4	Q9BXB1	p.Arg941His	rs202048946	missense variant	-	NC_000011.10:g.27367901C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg941Cys	rs201095301	missense variant	-	NC_000011.10:g.27367902G>A	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg941Ser	rs201095301	missense variant	-	NC_000011.10:g.27367902G>T	ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Arg941Pro	rs202048946	missense variant	-	NC_000011.10:g.27367901C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Ala943Gly	rs1429417455	missense variant	-	NC_000011.10:g.27367895G>C	TOPMed
LGR4	Q9BXB1	p.Ala943Pro	rs769886057	missense variant	-	NC_000011.10:g.27367896C>G	ExAC,gnomAD
LGR4	Q9BXB1	p.Ala943Thr	rs769886057	missense variant	-	NC_000011.10:g.27367896C>T	ExAC,gnomAD
LGR4	Q9BXB1	p.Asn945Ser	rs751255974	missense variant	-	NC_000011.10:g.27367889T>C	ExAC,TOPMed,gnomAD
LGR4	Q9BXB1	p.Asn945ArgPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000011.10:g.27367889_27367890insAAACTTCAGAACTTTTTCACTTTAACCTC	NCI-TCGA
LGR4	Q9BXB1	p.Pro947Ser	rs183501619	missense variant	-	NC_000011.10:g.27367884G>A	1000Genomes,ExAC,gnomAD
LGR4	Q9BXB1	p.Arg948Gly	rs746170706	missense variant	-	NC_000011.10:g.27367881T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Val949Ala	rs1388907731	missense variant	-	NC_000011.10:g.27367877A>G	TOPMed,gnomAD
LGR4	Q9BXB1	p.Val949Asp	rs1388907731	missense variant	-	NC_000011.10:g.27367877A>T	TOPMed,gnomAD
LGR4	Q9BXB1	p.Lys950Glu	rs779235459	missense variant	-	NC_000011.10:g.27367875T>C	ExAC,gnomAD
LGR4	Q9BXB1	p.Asp951Tyr	rs771226257	missense variant	-	NC_000011.10:g.27367872C>A	ExAC
LGR4	Q9BXB1	p.Ter952Gly	rs1409693872	stop lost	-	NC_000011.10:g.27367869A>C	TOPMed
CECR2	Q9BXF3	p.Glu5Asp	rs1392930980	missense variant	-	NC_000022.11:g.17369798G>C	TOPMed
CECR2	Q9BXF3	p.Gly6Ala	rs1372571971	missense variant	-	NC_000022.11:g.17369800G>C	TOPMed
CECR2	Q9BXF3	p.Gly7Asp	rs1434399422	missense variant	-	NC_000022.11:g.17369803G>A	TOPMed
CECR2	Q9BXF3	p.Gly7Ser	rs1172004326	missense variant	-	NC_000022.11:g.17369802G>A	TOPMed
CECR2	Q9BXF3	p.Gly10Glu	rs1174432100	missense variant	-	NC_000022.11:g.17369812G>A	TOPMed
CECR2	Q9BXF3	p.Gly12Ser	rs1469021362	missense variant	-	NC_000022.11:g.17369817G>A	TOPMed
CECR2	Q9BXF3	p.Gly12Val	rs1232835523	missense variant	-	NC_000022.11:g.17369818G>T	TOPMed
CECR2	Q9BXF3	p.Glu13Lys	rs1484236852	missense variant	-	NC_000022.11:g.17369820G>A	TOPMed
CECR2	Q9BXF3	p.Glu13Gln	rs1484236852	missense variant	-	NC_000022.11:g.17369820G>C	TOPMed
CECR2	Q9BXF3	p.Arg15Cys	rs1485817408	missense variant	-	NC_000022.11:g.17369826C>T	TOPMed
CECR2	Q9BXF3	p.Ser16Phe	rs1280077529	missense variant	-	NC_000022.11:g.17369830C>T	TOPMed
CECR2	Q9BXF3	p.Thr32Ser	rs1230225656	missense variant	-	NC_000022.11:g.17369878C>G	TOPMed
CECR2	Q9BXF3	p.Phe39Ile	rs1336198407	missense variant	-	NC_000022.11:g.17369898T>A	TOPMed
CECR2	Q9BXF3	p.Glu40Lys	rs1399044746	missense variant	-	NC_000022.11:g.17369901G>A	TOPMed
CECR2	Q9BXF3	p.Glu43Asp	rs766096565	missense variant	-	NC_000022.11:g.17477590G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala47Thr	rs754934325	missense variant	-	NC_000022.11:g.17477600G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.His49Asn	rs778366296	missense variant	-	NC_000022.11:g.17477606C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg50Gly	rs1391566594	missense variant	-	NC_000022.11:g.17477609A>G	gnomAD
CECR2	Q9BXF3	p.Asp51His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17477612G>C	NCI-TCGA
CECR2	Q9BXF3	p.Asp52Val	rs1331121402	missense variant	-	NC_000022.11:g.17477616A>T	gnomAD
CECR2	Q9BXF3	p.Val53Met	rs377154507	missense variant	-	NC_000022.11:g.17477618G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu54Gln	rs1237152097	missense variant	-	NC_000022.11:g.17477621G>C	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ile56Thr	rs777368572	missense variant	-	NC_000022.11:g.17477628T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Ile56Phe	rs757929527	missense variant	-	NC_000022.11:g.17477627A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Cys62Tyr	rs996600751	missense variant	-	NC_000022.11:g.17477646G>A	TOPMed
CECR2	Q9BXF3	p.Arg70Gly	rs771270218	missense variant	-	NC_000022.11:g.17477669C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg70Gln	rs781468489	missense variant	-	NC_000022.11:g.17477670G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg71Lys	rs372513605	missense variant	-	NC_000022.11:g.17477673G>A	ESP,TOPMed
CECR2	Q9BXF3	p.Asp72Tyr	rs1317485057	missense variant	-	NC_000022.11:g.17477675G>T	TOPMed
CECR2	Q9BXF3	p.Ile73Thr	rs770471342	missense variant	-	NC_000022.11:g.17477679T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro75Ser	COSM4102401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17497404C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Gln76Arg	rs1166144825	missense variant	-	NC_000022.11:g.17497408A>G	gnomAD
CECR2	Q9BXF3	p.Ser80Gly	rs1349613395	missense variant	-	NC_000022.11:g.17497419A>G	gnomAD
CECR2	Q9BXF3	p.Ile85Val	rs1237244440	missense variant	-	NC_000022.11:g.17497434A>G	TOPMed
CECR2	Q9BXF3	p.Ile86Thr	rs1349351366	missense variant	-	NC_000022.11:g.17497438T>C	TOPMed
CECR2	Q9BXF3	p.Asn87Ser	rs768839952	missense variant	-	NC_000022.11:g.17497441A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg89Cys	rs774359092	missense variant	-	NC_000022.11:g.17497446C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg89His	rs748368295	missense variant	-	NC_000022.11:g.17497447G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu93Lys	rs1313171620	missense variant	-	NC_000022.11:g.17497458G>A	gnomAD
CECR2	Q9BXF3	p.Glu94Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17497461G>C	NCI-TCGA
CECR2	Q9BXF3	p.Lys96Arg	rs1219369780	missense variant	-	NC_000022.11:g.17497468A>G	gnomAD
CECR2	Q9BXF3	p.Pro97Ser	rs759290476	missense variant	-	NC_000022.11:g.17497470C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro97Leu	rs765025297	missense variant	-	NC_000022.11:g.17497471C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg101Lys	rs763591044	missense variant	-	NC_000022.11:g.17497483G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala103Thr	rs921431915	missense variant	-	NC_000022.11:g.17497488G>A	TOPMed
CECR2	Q9BXF3	p.Ser104Thr	rs577083118	missense variant	-	NC_000022.11:g.17497492G>C	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln106His	rs1051316815	missense variant	-	NC_000022.11:g.17497499G>C	TOPMed
CECR2	Q9BXF3	p.Asp107Ala	rs756812082	missense variant	-	NC_000022.11:g.17497501A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp107Glu	rs1161976113	missense variant	-	NC_000022.11:g.17497502C>A	gnomAD
CECR2	Q9BXF3	p.Leu110Val	rs374467554	missense variant	-	NC_000022.11:g.17497509C>G	ESP,ExAC,TOPMed
CECR2	Q9BXF3	p.Leu110Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17497509C>A	NCI-TCGA
CECR2	Q9BXF3	p.Arg111Cys	COSM3551963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17497512C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg113Gln	rs1042373950	missense variant	-	NC_000022.11:g.17497519G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu115Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17497524G>A	NCI-TCGA
CECR2	Q9BXF3	p.His118Tyr	rs1378250296	missense variant	-	NC_000022.11:g.17497533C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg119Gln	rs755579495	missense variant	-	NC_000022.11:g.17497537G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg119Ter	rs1000953634	stop gained	-	NC_000022.11:g.17497536C>T	TOPMed
CECR2	Q9BXF3	p.Leu120Phe	rs1284310519	missense variant	-	NC_000022.11:g.17497539C>T	TOPMed
CECR2	Q9BXF3	p.Asp128Asn	rs1353807354	missense variant	-	NC_000022.11:g.17497563G>A	TOPMed
CECR2	Q9BXF3	p.Val130Ala	rs894947020	missense variant	-	NC_000022.11:g.17497570T>C	TOPMed,gnomAD
CECR2	Q9BXF3	p.Phe131Leu	rs774829517	missense variant	-	NC_000022.11:g.17497574C>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp132Asn	rs773244829	missense variant	-	NC_000022.11:g.17497575G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu133Ile	rs1482503334	missense variant	-	NC_000022.11:g.17497578C>A	gnomAD
CECR2	Q9BXF3	p.Lys135Asn	rs747245984	missense variant	-	NC_000022.11:g.17497586G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp138Gly	COSM4102406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499417A>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Asp138His	rs1437045492	missense variant	-	NC_000022.11:g.17499416G>C	gnomAD
CECR2	Q9BXF3	p.Arg143Cys	COSM4102409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499431C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg143His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17499432G>A	NCI-TCGA
CECR2	Q9BXF3	p.Val144Met	rs1364787975	missense variant	-	NC_000022.11:g.17499434G>A	gnomAD
CECR2	Q9BXF3	p.Glu149Lys	COSM1484043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499449G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Asp150Glu	rs1197109880	missense variant	-	NC_000022.11:g.17499454C>A	gnomAD
CECR2	Q9BXF3	p.Asp150Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17499452G>T	NCI-TCGA
CECR2	Q9BXF3	p.Asn151Ser	rs760380592	missense variant	-	NC_000022.11:g.17499456A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly153Trp	COSM1031845	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499461G>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Gly153Val	COSM1647466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499462G>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Leu155Val	rs549635868	missense variant	-	NC_000022.11:g.17499467C>G	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Phe159Leu	COSM256602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17499481C>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Tyr160Cys	rs1423142531	missense variant	-	NC_000022.11:g.17499483A>G	gnomAD
CECR2	Q9BXF3	p.Gly161Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.17499485G>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg163Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17499492G>A	NCI-TCGA
CECR2	Q9BXF3	p.Arg163Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17499491C>G	NCI-TCGA
CECR2	Q9BXF3	p.Met164Val	rs759014846	missense variant	-	NC_000022.11:g.17499494A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu167Lys	rs777687239	missense variant	-	NC_000022.11:g.17499503G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp168Asn	rs751690552	missense variant	-	NC_000022.11:g.17499506G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp168His	rs751690552	missense variant	-	NC_000022.11:g.17499506G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro169Leu	rs367590870	missense variant	-	NC_000022.11:g.17499510C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly172GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17499518G>-	NCI-TCGA
CECR2	Q9BXF3	p.Ser174Cys	rs1386085964	missense variant	-	NC_000022.11:g.17499525C>G	TOPMed
CECR2	Q9BXF3	p.Asn175Ser	rs746099602	missense variant	-	NC_000022.11:g.17499528A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu177Asp	rs1339482385	missense variant	-	NC_000022.11:g.17499535A>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser179Tyr	rs1295515953	missense variant	-	NC_000022.11:g.17499540C>A	gnomAD
CECR2	Q9BXF3	p.Ser179Pro	rs768318389	missense variant	-	NC_000022.11:g.17499539T>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser184Arg	rs757267172	missense variant	-	NC_000022.11:g.17500637T>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu185Gly	rs767637751	missense variant	-	NC_000022.11:g.17500639A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly186Arg	rs182513499	missense variant	-	NC_000022.11:g.17500641G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln187Arg	rs756398277	missense variant	-	NC_000022.11:g.17500645A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys188Thr	rs1159109323	missense variant	-	NC_000022.11:g.17500648A>C	gnomAD
CECR2	Q9BXF3	p.Asn189LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17500644_17500645insA	NCI-TCGA
CECR2	Q9BXF3	p.Val190Ile	rs1379225692	missense variant	-	NC_000022.11:g.17500653G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser191Ala	rs778549084	missense variant	-	NC_000022.11:g.17500656T>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser192Gly	rs535152863	missense variant	-	NC_000022.11:g.17500659A>G	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys196Asn	rs980054014	missense variant	-	NC_000022.11:g.17500673A>C	TOPMed
CECR2	Q9BXF3	p.Thr197Lys	rs199868742	missense variant	-	NC_000022.11:g.17500675C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr197Met	rs199868742	missense variant	-	NC_000022.11:g.17500675C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg200Lys	rs918376132	missense variant	-	NC_000022.11:g.17500684G>A	TOPMed
CECR2	Q9BXF3	p.Arg201Lys	rs1448250397	missense variant	-	NC_000022.11:g.17500687G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg201Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17500687G>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg203Gly	rs1358418411	missense variant	-	NC_000022.11:g.17500692A>G	gnomAD
CECR2	Q9BXF3	p.Pro205Ser	rs1351658733	missense variant	-	NC_000022.11:g.17500698C>T	gnomAD
CECR2	Q9BXF3	p.Arg207Gln	rs1256627770	missense variant	-	NC_000022.11:g.17500705G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg207Trp	rs776351510	missense variant	-	NC_000022.11:g.17500704C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln211Lys	rs1253706004	missense variant	-	NC_000022.11:g.17500716C>A	TOPMed
CECR2	Q9BXF3	p.Gln211Leu	rs1202136738	missense variant	-	NC_000022.11:g.17500717A>T	TOPMed
CECR2	Q9BXF3	p.Lys219Arg	rs889925794	missense variant	-	NC_000022.11:g.17503087A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln220Arg	rs1294632473	missense variant	-	NC_000022.11:g.17503090A>G	gnomAD
CECR2	Q9BXF3	p.Glu221Lys	rs766581793	missense variant	-	NC_000022.11:g.17503092G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu222Lys	rs754013306	missense variant	-	NC_000022.11:g.17503095G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Asn223Ile	rs758211976	missense variant	-	NC_000022.11:g.17503099A>T	ExAC
CECR2	Q9BXF3	p.Leu225Val	rs1008416986	missense variant	-	NC_000022.11:g.17503104T>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu225Trp	rs746939089	missense variant	-	NC_000022.11:g.17503105T>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser227Cys	rs769221545	missense variant	-	NC_000022.11:g.17503111C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser227Phe	rs769221545	missense variant	-	NC_000022.11:g.17503111C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser227Pro	rs780831049	missense variant	-	NC_000022.11:g.17503110T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser227Ala	rs780831049	missense variant	-	NC_000022.11:g.17503110T>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu228Lys	rs567172261	missense variant	-	NC_000022.11:g.17503113G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr231Arg	rs1477953039	missense variant	-	NC_000022.11:g.17503123C>G	gnomAD
CECR2	Q9BXF3	p.His233Tyr	rs1192402608	missense variant	-	NC_000022.11:g.17503128C>T	gnomAD
CECR2	Q9BXF3	p.His233Arg	rs762285421	missense variant	-	NC_000022.11:g.17503129A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly234Glu	rs761636519	missense variant	-	NC_000022.11:g.17504847G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly234Val	rs761636519	missense variant	-	NC_000022.11:g.17504847G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser235Pro	rs1353859755	missense variant	-	NC_000022.11:g.17504849T>C	gnomAD
CECR2	Q9BXF3	p.Ser235Tyr	COSM1031846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504850C>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser235Phe	rs767271030	missense variant	-	NC_000022.11:g.17504850C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln236Pro	rs372722720	missense variant	-	NC_000022.11:g.17504853A>C	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Gln236Arg	rs372722720	missense variant	-	NC_000022.11:g.17504853A>G	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Gly237Glu	rs1410111419	missense variant	-	NC_000022.11:g.17504856G>A	TOPMed
CECR2	Q9BXF3	p.Pro238Ala	rs779589916	missense variant	-	NC_000022.11:g.17504858C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln240Leu	rs754513973	missense variant	-	NC_000022.11:g.17504865A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln240Arg	rs754513973	missense variant	-	NC_000022.11:g.17504865A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln240Glu	rs753295694	missense variant	-	NC_000022.11:g.17504864C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly241Arg	rs1181108534	missense variant	-	NC_000022.11:g.17504867G>C	gnomAD
CECR2	Q9BXF3	p.Gly241Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17504868G>A	NCI-TCGA
CECR2	Q9BXF3	p.Thr242Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17504871C>T	NCI-TCGA
CECR2	Q9BXF3	p.Trp244Arg	rs375736912	missense variant	-	NC_000022.11:g.17504876T>A	ESP
CECR2	Q9BXF3	p.Trp244Cys	rs747810331	missense variant	-	NC_000022.11:g.17504878G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Trp244Leu	rs778468695	missense variant	-	NC_000022.11:g.17504877G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Trp244Cys	rs747810331	missense variant	-	NC_000022.11:g.17504878G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu246Val	rs778066537	missense variant	-	NC_000022.11:g.17504882C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln248Pro	rs1176824530	missense variant	-	NC_000022.11:g.17504889A>C	TOPMed
CECR2	Q9BXF3	p.Thr249Ala	COSM1031847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504891A>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Glu250Gln	rs368864314	missense variant	-	NC_000022.11:g.17504894G>C	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu251Gln	COSM4849912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504897G>C	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Glu251Lys	rs759650831	missense variant	-	NC_000022.11:g.17504897G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu252Asp	rs1445894804	missense variant	-	NC_000022.11:g.17504902A>T	gnomAD
CECR2	Q9BXF3	p.Gln255Arg	rs1017877730	missense variant	-	NC_000022.11:g.17504910A>G	TOPMed
CECR2	Q9BXF3	p.Val256Ile	rs965349400	missense variant	-	NC_000022.11:g.17504912G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Val256Ile	rs965349400	missense variant	-	NC_000022.11:g.17504912G>A	TOPMed
CECR2	Q9BXF3	p.Glu258Lys	rs377480686	missense variant	-	NC_000022.11:g.17504918G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu258Lys	rs377480686	missense variant	-	NC_000022.11:g.17504918G>A	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser259PhePheSerTerUnkUnk	COSM1484046	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17504917_17504918CG>-	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser259Asn	rs370937054	missense variant	-	NC_000022.11:g.17504922G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg261Cys	rs923281762	missense variant	-	NC_000022.11:g.17504927C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg261His	rs760539949	missense variant	-	NC_000022.11:g.17504928G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg261His	rs760539949	missense variant	-	NC_000022.11:g.17504928G>A	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg261Cys	rs923281762	missense variant	-	NC_000022.11:g.17504927C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Glu262Lys	rs753778123	missense variant	-	NC_000022.11:g.17504930G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr264Ser	rs960200515	missense variant	-	NC_000022.11:g.17504936A>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr264Ile	rs1401954936	missense variant	-	NC_000022.11:g.17504937C>T	TOPMed
CECR2	Q9BXF3	p.Thr264Ala	rs960200515	missense variant	-	NC_000022.11:g.17504936A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser265Phe	COSM3551972	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504940C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Leu266Arg	rs754426948	missense variant	-	NC_000022.11:g.17504943T>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg267Ter	COSM4102415	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17504945C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg267Gln	rs201912432	missense variant	-	NC_000022.11:g.17504946G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg269Gln	rs758026753	missense variant	-	NC_000022.11:g.17504952G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg269Trp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17504951C>T	NCI-TCGA
CECR2	Q9BXF3	p.Tyr272Ser	rs778177563	missense variant	-	NC_000022.11:g.17504961A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Tyr272Cys	rs778177563	missense variant	-	NC_000022.11:g.17504961A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Leu274Val	COSM6094740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504966C>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Leu274Pro	rs1326749458	missense variant	-	NC_000022.11:g.17504967T>C	gnomAD
CECR2	Q9BXF3	p.Ser276Gly	COSM4102418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17504972A>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser276Asn	rs914379185	missense variant	-	NC_000022.11:g.17504973G>A	TOPMed
CECR2	Q9BXF3	p.Pro281Ser	rs1436530113	missense variant	-	NC_000022.11:g.17504987C>T	gnomAD
CECR2	Q9BXF3	p.Cys284Tyr	rs1343279802	missense variant	-	NC_000022.11:g.17504997G>A	gnomAD
CECR2	Q9BXF3	p.Met286Val	rs1279236600	missense variant	-	NC_000022.11:g.17505002A>G	gnomAD
CECR2	Q9BXF3	p.Ile287Met	rs781738400	missense variant	-	NC_000022.11:g.17505007C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala288Thr	rs769986240	missense variant	-	NC_000022.11:g.17505008G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala288Val	rs775749314	missense variant	-	NC_000022.11:g.17505009C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Lys290Asn	rs749500004	missense variant	-	NC_000022.11:g.17505016G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Lys290Met	rs1186079753	missense variant	-	NC_000022.11:g.17505015A>T	TOPMed
CECR2	Q9BXF3	p.Arg293Cys	COSM1291205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17511819C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg293His	rs5747211	missense variant	-	NC_000022.11:g.17511820G>A	UniProt,dbSNP
CECR2	Q9BXF3	p.Arg293His	VAR_027411	missense variant	-	NC_000022.11:g.17511820G>A	UniProt
CECR2	Q9BXF3	p.Arg293His	rs5747211	missense variant	-	NC_000022.11:g.17511820G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro294Thr	COSM1031848	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17511822C>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro294Arg	rs759447732	missense variant	-	NC_000022.11:g.17511823C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg296Leu	rs149739505	missense variant	-	NC_000022.11:g.17511829G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg296His	rs149739505	missense variant	-	NC_000022.11:g.17511829G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg296Cys	rs372166419	missense variant	-	NC_000022.11:g.17511828C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg296Gly	rs372166419	missense variant	-	NC_000022.11:g.17511828C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg296Cys	rs372166419	missense variant	-	NC_000022.11:g.17511828C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Thr297Ser	rs940161101	missense variant	-	NC_000022.11:g.17511831A>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys298Glu	rs972881063	missense variant	-	NC_000022.11:g.17511834A>G	TOPMed
CECR2	Q9BXF3	p.Glu300Ter	rs1412834508	stop gained	-	NC_000022.11:g.17511840G>T	TOPMed
CECR2	Q9BXF3	p.Leu301Val	rs61745636	missense variant	-	NC_000022.11:g.17511843T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu301Trp	rs1236671379	missense variant	-	NC_000022.11:g.17511844T>G	TOPMed
CECR2	Q9BXF3	p.His302Asn	rs750763487	missense variant	-	NC_000022.11:g.17511846C>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro303Leu	rs374911807	missense variant	-	NC_000022.11:g.17511850C>T	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Pro303Leu	rs374911807	missense variant	-	NC_000022.11:g.17511850C>T	NCI-TCGA
CECR2	Q9BXF3	p.Met306Leu	rs1012421246	missense variant	-	NC_000022.11:g.17511858A>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser307Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17511862C>G	NCI-TCGA
CECR2	Q9BXF3	p.Asp308Gly	COSM1647465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17511865A>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.His309Tyr	rs1442772922	missense variant	-	NC_000022.11:g.17511867C>T	gnomAD
CECR2	Q9BXF3	p.Lys313Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17511881A>T	NCI-TCGA
CECR2	Q9BXF3	p.Pro314Leu	rs748289376	missense variant	-	NC_000022.11:g.17511883C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro314Ser	rs779115433	missense variant	-	NC_000022.11:g.17511882C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Val315Ile	rs777993980	missense variant	-	NC_000022.11:g.17511885G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val315Gly	rs745626121	missense variant	-	NC_000022.11:g.17511886T>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Val315Ile	rs777993980	missense variant	-	NC_000022.11:g.17511885G>A	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Lys316Gln	rs372506978	missense variant	-	NC_000022.11:g.17511888A>C	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys316Thr	rs775235194	missense variant	-	NC_000022.11:g.17511889A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu318Lys	rs1335090360	missense variant	-	NC_000022.11:g.17511894G>A	gnomAD
CECR2	Q9BXF3	p.Glu319Asp	rs377543712	missense variant	-	NC_000022.11:g.17524120G>C	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu319Lys	rs771720298	missense variant	-	NC_000022.11:g.17524118G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro321Ser	rs1196831983	missense variant	-	NC_000022.11:g.17524124C>T	gnomAD
CECR2	Q9BXF3	p.Thr324Ala	rs1426305860	missense variant	-	NC_000022.11:g.17524133A>G	gnomAD
CECR2	Q9BXF3	p.Ile326Val	rs964732053	missense variant	-	NC_000022.11:g.17524139A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu327Val	rs766620277	missense variant	-	NC_000022.11:g.17524143A>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys328Glu	rs777102530	missense variant	-	NC_000022.11:g.17524145A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg331His	rs138101258	missense variant	-	NC_000022.11:g.17524155G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg331Leu	rs138101258	missense variant	-	NC_000022.11:g.17524155G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg331Cys	rs370462260	missense variant	-	NC_000022.11:g.17524154C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg331Cys	rs370462260	missense variant	-	NC_000022.11:g.17524154C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Lys332Glu	rs753210062	missense variant	-	NC_000022.11:g.17524157A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Lys332Arg	rs758418427	missense variant	-	NC_000022.11:g.17524158A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Lys332Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17524159A>C	NCI-TCGA
CECR2	Q9BXF3	p.Glu333Asp	rs751780457	missense variant	-	NC_000022.11:g.17524162G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu333Gln	rs764220976	missense variant	-	NC_000022.11:g.17524160G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu336Gln	rs923483211	missense variant	-	NC_000022.11:g.17524169G>C	TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu337Gly	rs1294520932	missense variant	-	NC_000022.11:g.17524173A>G	gnomAD
CECR2	Q9BXF3	p.Arg338Cys	rs1305703130	missense variant	-	NC_000022.11:g.17524175C>T	gnomAD
CECR2	Q9BXF3	p.Arg338His	rs1246812923	missense variant	-	NC_000022.11:g.17524176G>A	gnomAD
CECR2	Q9BXF3	p.Arg338Cys	rs1305703130	missense variant	-	NC_000022.11:g.17524175C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ile340Asn	rs367584284	missense variant	-	NC_000022.11:g.17524182T>A	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Leu341Ile	COSM1200660	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17524184C>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Leu342Val	rs749069125	missense variant	-	NC_000022.11:g.17524187C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln345His	rs1264839086	missense variant	-	NC_000022.11:g.17524198G>C	gnomAD
CECR2	Q9BXF3	p.Lys347Glu	rs754730786	missense variant	-	NC_000022.11:g.17524202A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu348Lys	rs1186322214	missense variant	-	NC_000022.11:g.17524205G>A	gnomAD
CECR2	Q9BXF3	p.Gln349Pro	rs778851814	missense variant	-	NC_000022.11:g.17524209A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln349Glu	rs1260016477	missense variant	-	NC_000022.11:g.17524208C>G	gnomAD
CECR2	Q9BXF3	p.Gln349Arg	rs778851814	missense variant	-	NC_000022.11:g.17524209A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Met352Ile	rs748152983	missense variant	-	NC_000022.11:g.17524219G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Leu353Val	rs771704119	missense variant	-	NC_000022.11:g.17524220C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg359His	rs573791910	missense variant	-	NC_000022.11:g.17524239G>A	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Arg359Cys	rs770569105	missense variant	-	NC_000022.11:g.17524238C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg359Cys	rs770569105	missense variant	-	NC_000022.11:g.17524238C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Glu360Lys	rs536063005	missense variant	-	NC_000022.11:g.17524241G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu360Val	rs775966102	missense variant	-	NC_000022.11:g.17524242A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Leu361Trp	rs1243180877	missense variant	-	NC_000022.11:g.17524245T>G	gnomAD
CECR2	Q9BXF3	p.Val365Ala	rs1214550759	missense variant	-	NC_000022.11:g.17524257T>C	gnomAD
CECR2	Q9BXF3	p.Lys366Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17524261G>T	NCI-TCGA
CECR2	Q9BXF3	p.Ala367Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17524263C>G	NCI-TCGA
CECR2	Q9BXF3	p.Val368Met	rs1259414454	missense variant	-	NC_000022.11:g.17524265G>A	gnomAD
CECR2	Q9BXF3	p.Glu369Gly	rs757310038	missense variant	-	NC_000022.11:g.17524269A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met371Ile	rs374499391	missense variant	-	NC_000022.11:g.17524276G>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met371Ile	rs374499391	missense variant	-	NC_000022.11:g.17524276G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Cys372Arg	rs750620736	missense variant	-	NC_000022.11:g.17524277T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg375Cys	rs368613674	missense variant	-	NC_000022.11:g.17524286C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg375His	rs73389185	missense variant	-	NC_000022.11:g.17524287G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg375Pro	rs73389185	missense variant	-	NC_000022.11:g.17524287G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg375Leu	rs73389185	missense variant	-	NC_000022.11:g.17524287G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg375Gly	rs368613674	missense variant	-	NC_000022.11:g.17524286C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val376Met	rs746478829	missense variant	-	NC_000022.11:g.17524289G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val377Ile	rs1207121066	missense variant	-	NC_000022.11:g.17524292G>A	TOPMed
CECR2	Q9BXF3	p.Trp378Arg	rs770353990	missense variant	-	NC_000022.11:g.17524295T>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Trp378Ter	rs375042326	stop gained	-	NC_000022.11:g.17524297G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Trp378Cys	rs375042326	missense variant	-	NC_000022.11:g.17524297G>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly380Val	rs1373424816	missense variant	-	NC_000022.11:g.17524302G>T	gnomAD
CECR2	Q9BXF3	p.Gly380Asp	rs1373424816	missense variant	-	NC_000022.11:g.17524302G>A	gnomAD
CECR2	Q9BXF3	p.Ala381Val	rs1222913650	missense variant	-	NC_000022.11:g.17524305C>T	gnomAD
CECR2	Q9BXF3	p.Cys382Tyr	rs770194958	missense variant	-	NC_000022.11:g.17524308G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Cys382Arg	rs368031555	missense variant	-	NC_000022.11:g.17524307T>C	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Ser384Leu	rs1173667163	missense variant	-	NC_000022.11:g.17524314C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr385Ile	rs778972186	missense variant	-	NC_000022.11:g.17524317C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser386Gly	rs996241613	missense variant	-	NC_000022.11:g.17524319A>G	gnomAD
CECR2	Q9BXF3	p.Arg387His	rs767550931	missense variant	-	NC_000022.11:g.17524323G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg387Cys	rs375892327	missense variant	-	NC_000022.11:g.17524322C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg387Gly	rs375892327	missense variant	-	NC_000022.11:g.17524322C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro388Thr	rs368913946	missense variant	-	NC_000022.11:g.17524325C>A	ESP,gnomAD
CECR2	Q9BXF3	p.Pro388Leu	rs760846394	missense variant	-	NC_000022.11:g.17524326C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp390Glu	rs1205934176	missense variant	-	NC_000022.11:g.17537104T>G	gnomAD
CECR2	Q9BXF3	p.Arg391Ter	COSM1031849	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17537105C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg391Pro	rs755330116	missense variant	-	NC_000022.11:g.17537106G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg391Gln	rs755330116	missense variant	-	NC_000022.11:g.17537106G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala392Gly	rs748666454	missense variant	-	NC_000022.11:g.17537109C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala392Val	rs748666454	missense variant	-	NC_000022.11:g.17537109C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala392Thr	rs1213605092	missense variant	-	NC_000022.11:g.17537108G>A	gnomAD
CECR2	Q9BXF3	p.Arg395Thr	rs1307309795	missense variant	-	NC_000022.11:g.17537118G>C	TOPMed
CECR2	Q9BXF3	p.Lys396Arg	rs369723376	missense variant	-	NC_000022.11:g.17537121A>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys396Met	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17537121A>T	NCI-TCGA
CECR2	Q9BXF3	p.Ala402Val	COSM1327343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17537139C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ala402Thr	rs759906727	missense variant	-	NC_000022.11:g.17537138G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala402Ser	rs759906727	missense variant	-	NC_000022.11:g.17537138G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Trp403Arg	rs377610344	missense variant	-	NC_000022.11:g.17537141T>C	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Trp403Cys	rs1413497823	missense variant	-	NC_000022.11:g.17537143G>C	TOPMed
CECR2	Q9BXF3	p.Leu404Met	rs1425420334	missense variant	-	NC_000022.11:g.17537144C>A	TOPMed
CECR2	Q9BXF3	p.Gly408Glu	rs868448604	missense variant	-	NC_000022.11:g.17537157G>A	-
CECR2	Q9BXF3	p.Gly408Glu	rs868448604	missense variant	-	NC_000022.11:g.17537157G>A	NCI-TCGA
CECR2	Q9BXF3	p.Glu414Gly	rs1452480243	missense variant	-	NC_000022.11:g.17537175A>G	gnomAD
CECR2	Q9BXF3	p.Ser416Tyr	rs1379185960	missense variant	-	NC_000022.11:g.17537181C>A	gnomAD
CECR2	Q9BXF3	p.Ser416Pro	rs767287382	missense variant	-	NC_000022.11:g.17537180T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Leu418Pro	rs765937949	missense variant	-	NC_000022.11:g.17537187T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Asn421Ser	rs754672917	missense variant	-	NC_000022.11:g.17537196A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asn421Asp	rs1250310966	missense variant	-	NC_000022.11:g.17537195A>G	TOPMed
CECR2	Q9BXF3	p.Asn421Asp	rs1250310966	missense variant	-	NC_000022.11:g.17537195A>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser422Ala	rs1461715815	missense variant	-	NC_000022.11:g.17537198T>G	gnomAD
CECR2	Q9BXF3	p.Pro423Leu	rs1234614971	missense variant	-	NC_000022.11:g.17537202C>T	TOPMed
CECR2	Q9BXF3	p.Pro423Ala	rs1483425368	missense variant	-	NC_000022.11:g.17537201C>G	TOPMed
CECR2	Q9BXF3	p.Pro423Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17537201C>T	NCI-TCGA
CECR2	Q9BXF3	p.Met424Leu	rs748420479	missense variant	-	NC_000022.11:g.17537204A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Met424Ile	rs1439022266	missense variant	-	NC_000022.11:g.17537206G>A	gnomAD
CECR2	Q9BXF3	p.Met424Lys	rs1240790758	missense variant	-	NC_000022.11:g.17537205T>A	gnomAD
CECR2	Q9BXF3	p.Arg425Lys	rs1182131223	missense variant	-	NC_000022.11:g.17537208G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu426Lys	rs1362897635	missense variant	-	NC_000022.11:g.17537210G>A	gnomAD
CECR2	Q9BXF3	p.Glu427Gly	rs758794753	missense variant	-	NC_000022.11:g.17537214A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu427Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17537213G>A	NCI-TCGA
CECR2	Q9BXF3	p.Lys429Arg	rs778084870	missense variant	-	NC_000022.11:g.17537220A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Lys429ArgPheSerTerUnkUnk	COSM1733530	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17537214A>-	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Lys429Arg	rs778084870	missense variant	-	NC_000022.11:g.17537220A>G	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Thr430Ser	rs1469787166	missense variant	-	NC_000022.11:g.17537223C>G	gnomAD
CECR2	Q9BXF3	p.Thr430Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17537222A>T	NCI-TCGA
CECR2	Q9BXF3	p.Leu433Phe	rs747578630	missense variant	-	NC_000022.11:g.17537231C>T	ExAC
CECR2	Q9BXF3	p.Glu435Val	rs758678613	missense variant	-	NC_000022.11:g.17538525A>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu435Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17538526G>T	NCI-TCGA
CECR2	Q9BXF3	p.Asp438Gly	rs778269475	missense variant	-	NC_000022.11:g.17538534A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp438Ala	rs778269475	missense variant	-	NC_000022.11:g.17538534A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp439His	rs752084298	missense variant	-	NC_000022.11:g.17538536G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr441Ala	rs567987744	missense variant	-	NC_000022.11:g.17538542A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala442Ser	rs745907542	missense variant	-	NC_000022.11:g.17538545G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Met443Ile	rs1407056543	missense variant	-	NC_000022.11:g.17538550G>A	gnomAD
CECR2	Q9BXF3	p.Met443Ile	rs1407056543	missense variant	-	NC_000022.11:g.17538550G>A	NCI-TCGA
CECR2	Q9BXF3	p.Tyr444Cys	rs1198514409	missense variant	-	NC_000022.11:g.17538552A>G	TOPMed
CECR2	Q9BXF3	p.Val449Met	rs751021833	missense variant	-	NC_000022.11:g.17538648G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Val449Ala	rs756140915	missense variant	-	NC_000022.11:g.17538649T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Val450Leu	rs749447312	missense variant	-	NC_000022.11:g.17538651G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val450Ile	rs749447312	missense variant	-	NC_000022.11:g.17538651G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val450Ile	rs749447312	missense variant	-	NC_000022.11:g.17538651G>A	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Lys451Asn	rs1315065505	missense variant	-	NC_000022.11:g.17538656G>C	gnomAD
CECR2	Q9BXF3	p.Ala452Pro	rs1458493953	missense variant	-	NC_000022.11:g.17538657G>C	gnomAD
CECR2	Q9BXF3	p.Ala452Val	rs1165122149	missense variant	-	NC_000022.11:g.17538658C>T	gnomAD
CECR2	Q9BXF3	p.Pro462Ala	rs779135758	missense variant	-	NC_000022.11:g.17538687C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp464Asn	rs951271508	missense variant	-	NC_000022.11:g.17538693G>A	TOPMed
CECR2	Q9BXF3	p.Glu465Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17538696G>A	NCI-TCGA
CECR2	Q9BXF3	p.Ala468Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17538706C>T	NCI-TCGA
CECR2	Q9BXF3	p.Asn470Ser	rs984079763	missense variant	-	NC_000022.11:g.17538712A>G	TOPMed
CECR2	Q9BXF3	p.Asn470Lys	rs192647734	missense variant	-	NC_000022.11:g.17538713C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln473His	rs1384616850	missense variant	-	NC_000022.11:g.17538722G>T	gnomAD
CECR2	Q9BXF3	p.Ile474Met	rs1443085744	missense variant	-	NC_000022.11:g.17538725T>G	gnomAD
CECR2	Q9BXF3	p.Ile475Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17538726A>G	NCI-TCGA
CECR2	Q9BXF3	p.Met479Ile	rs1299339757	missense variant	-	NC_000022.11:g.17539001G>A	gnomAD
CECR2	Q9BXF3	p.Met479Val	rs781006457	missense variant	-	NC_000022.11:g.17538999A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser483Gly	rs1246509787	missense variant	-	NC_000022.11:g.17539011A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Met484Val	rs933732047	missense variant	-	NC_000022.11:g.17539014A>G	TOPMed
CECR2	Q9BXF3	p.Lys487Glu	rs745773635	missense variant	-	NC_000022.11:g.17539023A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Asn489Ser	rs769725088	missense variant	-	NC_000022.11:g.17539030A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly491Val	rs768298929	missense variant	-	NC_000022.11:g.17539036G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly491Ser	rs748769002	missense variant	-	NC_000022.11:g.17539035G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly491Asp	rs768298929	missense variant	-	NC_000022.11:g.17539036G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr493Cys	rs774139283	missense variant	-	NC_000022.11:g.17539042A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Cys494Tyr	rs1206729717	missense variant	-	NC_000022.11:g.17539045G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr495Ala	rs1233460933	missense variant	-	NC_000022.11:g.17539047A>G	gnomAD
CECR2	Q9BXF3	p.Phe499Leu	rs1480467022	missense variant	-	NC_000022.11:g.17539059T>C	gnomAD
CECR2	Q9BXF3	p.Phe499Ile	rs1480467022	missense variant	-	NC_000022.11:g.17539059T>A	gnomAD
CECR2	Q9BXF3	p.Val500Ile	rs1180269671	missense variant	-	NC_000022.11:g.17539062G>A	gnomAD
CECR2	Q9BXF3	p.Asp502Asn	rs1453580947	missense variant	-	NC_000022.11:g.17539068G>A	TOPMed
CECR2	Q9BXF3	p.Met503Ile	rs1481277764	missense variant	-	NC_000022.11:g.17539073G>A	gnomAD
CECR2	Q9BXF3	p.Met503Val	rs1249409874	missense variant	-	NC_000022.11:g.17539071A>G	gnomAD
CECR2	Q9BXF3	p.Thr505Ile	rs371376833	missense variant	-	NC_000022.11:g.17539078C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr505Ser	rs1271121594	missense variant	-	NC_000022.11:g.17539077A>T	TOPMed
CECR2	Q9BXF3	p.Thr505Ser	rs371376833	missense variant	-	NC_000022.11:g.17539078C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met506Ile	rs1428545031	missense variant	-	NC_000022.11:g.17539082G>T	gnomAD
CECR2	Q9BXF3	p.Arg508Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17539086A>G	NCI-TCGA
CECR2	Q9BXF3	p.Arg511Gln	rs773574847	missense variant	-	NC_000022.11:g.17539096G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg511Ter	rs1339788253	stop gained	-	NC_000022.11:g.17539095C>T	TOPMed
CECR2	Q9BXF3	p.Asn514Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17539106T>A	NCI-TCGA
CECR2	Q9BXF3	p.Ser517Asn	rs369929274	missense variant	-	NC_000022.11:g.17539114G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser518Asn	rs1461226139	missense variant	-	NC_000022.11:g.17539117G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr520Cys	rs1474378338	missense variant	-	NC_000022.11:g.17540415A>G	TOPMed
CECR2	Q9BXF3	p.Thr521Ser	rs146626965	missense variant	-	NC_000022.11:g.17540417A>T	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Lys522Gln	rs761052719	missense variant	-	NC_000022.11:g.17540420A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp525Asn	rs1317166259	missense variant	-	NC_000022.11:g.17540429G>A	gnomAD
CECR2	Q9BXF3	p.Asn526His	rs1489095977	missense variant	-	NC_000022.11:g.17540432A>C	TOPMed
CECR2	Q9BXF3	p.Arg529Lys	rs1360452688	missense variant	-	NC_000022.11:g.17540442G>A	gnomAD
CECR2	Q9BXF3	p.Cys530Arg	rs767167862	missense variant	-	NC_000022.11:g.17540444T>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Cys530Gly	rs767167862	missense variant	-	NC_000022.11:g.17540444T>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.His532Arg	rs765286729	missense variant	-	NC_000022.11:g.17540451A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.His532Leu	rs765286729	missense variant	-	NC_000022.11:g.17540451A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg533Trp	rs763022716	missense variant	-	NC_000022.11:g.17540453C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg533Trp	rs763022716	missense variant	-	NC_000022.11:g.17540453C>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg533Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540454G>A	NCI-TCGA
CECR2	Q9BXF3	p.Met535Val	rs764334368	missense variant	-	NC_000022.11:g.17540459A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Met536Lys	rs752204763	missense variant	-	NC_000022.11:g.17540463T>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Met536Ile	rs1024456558	missense variant	-	NC_000022.11:g.17540464G>T	TOPMed
CECR2	Q9BXF3	p.Lys537Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540465A>G	NCI-TCGA
CECR2	Q9BXF3	p.Phe539Leu	rs1186141958	missense variant	-	NC_000022.11:g.17540471T>C	gnomAD
CECR2	Q9BXF3	p.Pro540His	rs1386547944	missense variant	-	NC_000022.11:g.17540475C>A	gnomAD
CECR2	Q9BXF3	p.Glu542Asp	rs1162249629	missense variant	-	NC_000022.11:g.17540482A>T	gnomAD
CECR2	Q9BXF3	p.Glu542Lys	rs1444937391	missense variant	-	NC_000022.11:g.17540480G>A	gnomAD
CECR2	Q9BXF3	p.Asp543His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540483G>C	NCI-TCGA
CECR2	Q9BXF3	p.Thr546Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540492A>G	NCI-TCGA
CECR2	Q9BXF3	p.Phe550Ser	rs755911186	missense variant	-	NC_000022.11:g.17540505T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Trp551Ter	COSM4823743	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17540509G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Trp551Cys	rs971999536	missense variant	-	NC_000022.11:g.17540509G>C	TOPMed
CECR2	Q9BXF3	p.Arg553Ter	COSM1592838	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17540513C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg553Gln	rs1319345987	missense variant	-	NC_000022.11:g.17540514G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp555Glu	rs779784806	missense variant	-	NC_000022.11:g.17540521T>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu556Asp	rs1171304462	missense variant	-	NC_000022.11:g.17540524A>T	gnomAD
CECR2	Q9BXF3	p.Arg558Trp	rs982960939	missense variant	-	NC_000022.11:g.17540528C>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg558Gln	rs753803451	missense variant	-	NC_000022.11:g.17540529G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg558Trp	rs982960939	missense variant	-	NC_000022.11:g.17540528C>T	TOPMed
CECR2	Q9BXF3	p.Arg561Lys	rs1338847306	missense variant	-	NC_000022.11:g.17540538G>A	gnomAD
CECR2	Q9BXF3	p.Arg561Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540538G>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg562Gln	rs1245571259	missense variant	-	NC_000022.11:g.17540541G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg562Trp	rs768986689	missense variant	-	NC_000022.11:g.17540540C>T	gnomAD
CECR2	Q9BXF3	p.Arg562Trp	rs768986689	missense variant	-	NC_000022.11:g.17540540C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg564Trp	rs1015830181	missense variant	-	NC_000022.11:g.17540546C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg564Gln	rs754907211	missense variant	-	NC_000022.11:g.17540547G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg564Leu	rs754907211	missense variant	-	NC_000022.11:g.17540547G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg564Trp	rs1015830181	missense variant	-	NC_000022.11:g.17540546C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ala565Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540549G>A	NCI-TCGA
CECR2	Q9BXF3	p.Arg567Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540556G>A	NCI-TCGA
CECR2	Q9BXF3	p.Arg567Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.17540555C>T	NCI-TCGA
CECR2	Q9BXF3	p.Ser568Arg	rs779001484	missense variant	-	NC_000022.11:g.17540558A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser571Thr	rs1166610753	missense variant	-	NC_000022.11:g.17540568G>C	TOPMed
CECR2	Q9BXF3	p.Trp574LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17540574_17540575insG	NCI-TCGA
CECR2	Q9BXF3	p.Thr575Ser	rs777460800	missense variant	-	NC_000022.11:g.17540580C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr575Ile	rs777460800	missense variant	-	NC_000022.11:g.17540580C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg576His	rs921298824	missense variant	-	NC_000022.11:g.17540583G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg576Cys	rs755804225	missense variant	-	NC_000022.11:g.17540582C>T	gnomAD
CECR2	Q9BXF3	p.Ser577Phe	rs1366385826	missense variant	-	NC_000022.11:g.17540586C>T	gnomAD
CECR2	Q9BXF3	p.Asp579Tyr	rs1190219428	missense variant	-	NC_000022.11:g.17540591G>T	TOPMed
CECR2	Q9BXF3	p.Gly582Val	rs1159521491	missense variant	-	NC_000022.11:g.17540601G>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly582Trp	rs1470921145	missense variant	-	NC_000022.11:g.17540600G>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser584Ile	rs1456176142	missense variant	-	NC_000022.11:g.17540607G>T	gnomAD
CECR2	Q9BXF3	p.Gln587His	rs1406980432	missense variant	-	NC_000022.11:g.17540617G>C	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln587Arg	rs1179166786	missense variant	-	NC_000022.11:g.17540616A>G	gnomAD
CECR2	Q9BXF3	p.Gln588Pro	rs1395543657	missense variant	-	NC_000022.11:g.17540619A>C	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro589Leu	rs1397472752	missense variant	-	NC_000022.11:g.17540622C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro589His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540622C>A	NCI-TCGA
CECR2	Q9BXF3	p.Met590Leu	rs771321397	missense variant	-	NC_000022.11:g.17540624A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Met590Val	rs771321397	missense variant	-	NC_000022.11:g.17540624A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu591Val	rs759905602	missense variant	-	NC_000022.11:g.17540628A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Asn592Lys	rs770216722	missense variant	-	NC_000022.11:g.17540632T>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asn592Lys	rs770216722	missense variant	-	NC_000022.11:g.17540632T>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly593Val	rs1299256152	missense variant	-	NC_000022.11:g.17540634G>T	TOPMed
CECR2	Q9BXF3	p.Gly594Arg	rs776005235	missense variant	-	NC_000022.11:g.17540636G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser596Leu	rs777261624	missense variant	-	NC_000022.11:g.17540643C>T	gnomAD
CECR2	Q9BXF3	p.Ser596Leu	rs777261624	missense variant	-	NC_000022.11:g.17540643C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Leu597Phe	rs751805976	missense variant	-	NC_000022.11:g.17540647G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro598Leu	rs1354271173	missense variant	-	NC_000022.11:g.17540649C>T	gnomAD
CECR2	Q9BXF3	p.Thr600HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17540648C>-	NCI-TCGA
CECR2	Q9BXF3	p.Arg601His	rs565809706	missense variant	-	NC_000022.11:g.17540658G>A	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg601Cys	rs767796133	missense variant	-	NC_000022.11:g.17540657C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg601Gly	rs767796133	missense variant	-	NC_000022.11:g.17540657C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg601Ser	rs767796133	missense variant	-	NC_000022.11:g.17540657C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg601Cys	rs767796133	missense variant	-	NC_000022.11:g.17540657C>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg602Gln	rs200414904	missense variant	-	NC_000022.11:g.17540661G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro604Leu	rs1471800729	missense variant	-	NC_000022.11:g.17540667C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro604Arg	rs1471800729	missense variant	-	NC_000022.11:g.17540667C>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro604Leu	rs1471800729	missense variant	-	NC_000022.11:g.17540667C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser605Phe	rs1375473684	missense variant	-	NC_000022.11:g.17540670C>T	TOPMed
CECR2	Q9BXF3	p.Asp608Gly	rs746659459	missense variant	-	NC_000022.11:g.17540679A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp608Glu	rs770431570	missense variant	-	NC_000022.11:g.17540680C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp609Tyr	rs141453031	missense variant	-	NC_000022.11:g.17540681G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp609Asn	rs141453031	missense variant	-	NC_000022.11:g.17540681G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp609Asn	rs141453031	missense variant	-	NC_000022.11:g.17540681G>A	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser611Asn	rs1410783821	missense variant	-	NC_000022.11:g.17540688G>A	gnomAD
CECR2	Q9BXF3	p.Ser613Gly	rs184360323	missense variant	-	NC_000022.11:g.17540693A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser613Ile	rs1320585056	missense variant	-	NC_000022.11:g.17540694G>T	TOPMed
CECR2	Q9BXF3	p.Ser613Cys	rs184360323	missense variant	-	NC_000022.11:g.17540693A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln616Glu	rs775950079	missense variant	-	NC_000022.11:g.17540702C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro617Leu	COSM3551983	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17540706C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro617His	rs1346085214	missense variant	-	NC_000022.11:g.17540706C>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro618Leu	rs894825263	missense variant	-	NC_000022.11:g.17540709C>T	TOPMed
CECR2	Q9BXF3	p.Pro618Ser	rs376281162	missense variant	-	NC_000022.11:g.17540708C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg619Trp	rs774240844	missense variant	-	NC_000022.11:g.17540711C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg619Gln	rs761960139	missense variant	-	NC_000022.11:g.17540712G>A	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg619Gln	rs761960139	missense variant	-	NC_000022.11:g.17540712G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu620Lys	COSM1647463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17540714G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Glu620Val	rs767596260	missense variant	-	NC_000022.11:g.17540715A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Val621Ala	rs759383073	missense variant	-	NC_000022.11:g.17540718T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Val621Leu	rs571431405	missense variant	-	NC_000022.11:g.17540717G>T	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Gly622Asp	rs758325027	missense variant	-	NC_000022.11:g.17540721G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly622Ser	rs752677007	missense variant	-	NC_000022.11:g.17540720G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser624Cys	rs764104545	missense variant	-	NC_000022.11:g.17540727C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser624Tyr	rs764104545	missense variant	-	NC_000022.11:g.17540727C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser624Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540727C>T	NCI-TCGA
CECR2	Q9BXF3	p.Asn625Ser	rs370750159	missense variant	-	NC_000022.11:g.17540730A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asn625Asp	rs756820244	missense variant	-	NC_000022.11:g.17540729A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly626Ala	rs1466047827	missense variant	-	NC_000022.11:g.17540733G>C	TOPMed
CECR2	Q9BXF3	p.Arg627Gln	rs745565052	missense variant	-	NC_000022.11:g.17540736G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg627Gly	rs1304791646	missense variant	-	NC_000022.11:g.17540735C>G	gnomAD
CECR2	Q9BXF3	p.Arg627Gly	rs1304791646	missense variant	-	NC_000022.11:g.17540735C>G	NCI-TCGA
CECR2	Q9BXF3	p.Gly628Val	rs756435741	missense variant	-	NC_000022.11:g.17540739G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Phe629Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540741T>G	NCI-TCGA
CECR2	Q9BXF3	p.Ser630Phe	rs556884942	missense variant	-	NC_000022.11:g.17540745C>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser630Phe	rs556884942	missense variant	-	NC_000022.11:g.17540745C>T	NCI-TCGA
CECR2	Q9BXF3	p.Pro632Leu	rs1328077100	missense variant	-	NC_000022.11:g.17540751C>T	gnomAD
CECR2	Q9BXF3	p.Pro632Thr	rs1485404259	missense variant	-	NC_000022.11:g.17540750C>A	gnomAD
CECR2	Q9BXF3	p.His634Arg	rs374940850	missense variant	-	NC_000022.11:g.17540757A>G	ESP,gnomAD
CECR2	Q9BXF3	p.Cys635Tyr	rs1179649142	missense variant	-	NC_000022.11:g.17540760G>A	TOPMed
CECR2	Q9BXF3	p.Gly636Asp	rs749669473	missense variant	-	NC_000022.11:g.17540763G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr638Ala	COSM1616217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17540768A>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Thr638Ile	rs1224251690	missense variant	-	NC_000022.11:g.17540769C>T	gnomAD
CECR2	Q9BXF3	p.Pro639Arg	rs1293011876	missense variant	-	NC_000022.11:g.17540772C>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser640Arg	rs748130070	missense variant	-	NC_000022.11:g.17540776C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser640Ile	rs368057111	missense variant	-	NC_000022.11:g.17540775G>T	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Gln641His	rs1448014278	missense variant	-	NC_000022.11:g.17540779G>T	gnomAD
CECR2	Q9BXF3	p.Gln641Arg	rs772245062	missense variant	-	NC_000022.11:g.17540778A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala642Ser	rs1188021622	missense variant	-	NC_000022.11:g.17540780G>T	gnomAD
CECR2	Q9BXF3	p.Pro643Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540783C>A	NCI-TCGA
CECR2	Q9BXF3	p.Pro643His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17540784C>A	NCI-TCGA
CECR2	Q9BXF3	p.Gln647Glu	rs1483595562	missense variant	-	NC_000022.11:g.17540795C>G	TOPMed
CECR2	Q9BXF3	p.Gln647Arg	rs573687701	missense variant	-	NC_000022.11:g.17540796A>G	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro653Leu	rs1409670784	missense variant	-	NC_000022.11:g.17541852C>T	gnomAD
CECR2	Q9BXF3	p.Pro653Leu	rs1409670784	missense variant	-	NC_000022.11:g.17541852C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Phe656Leu	rs1176229199	missense variant	-	NC_000022.11:g.17541860T>C	gnomAD
CECR2	Q9BXF3	p.Phe656Leu	rs774120301	missense variant	-	NC_000022.11:g.17541862T>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Phe656Ser	rs377207620	missense variant	-	NC_000022.11:g.17541861T>C	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Pro658Ala	rs1398987540	missense variant	-	NC_000022.11:g.17541866C>G	TOPMed
CECR2	Q9BXF3	p.Pro658Ser	rs1398987540	missense variant	-	NC_000022.11:g.17541866C>T	TOPMed
CECR2	Q9BXF3	p.Leu659Pro	rs767459756	missense variant	-	NC_000022.11:g.17541870T>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu659Met	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17541869C>A	NCI-TCGA
CECR2	Q9BXF3	p.Arg660Gln	rs371979990	missense variant	-	NC_000022.11:g.17541873G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg660Gln	rs371979990	missense variant	-	NC_000022.11:g.17541873G>A	NCI-TCGA
CECR2	Q9BXF3	p.Gly661Arg	rs1367174836	missense variant	-	NC_000022.11:g.17541875G>A	TOPMed
CECR2	Q9BXF3	p.Asp663Glu	rs1347948871	missense variant	-	NC_000022.11:g.17541883T>G	gnomAD
CECR2	Q9BXF3	p.Pro664Ala	rs760212176	missense variant	-	NC_000022.11:g.17541884C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala665Thr	rs376303986	missense variant	-	NC_000022.11:g.17541887G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala665Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17541888C>T	NCI-TCGA
CECR2	Q9BXF3	p.Ala665Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17541887G>C	NCI-TCGA
CECR2	Q9BXF3	p.Thr666Ser	rs1310499911	missense variant	-	NC_000022.11:g.17541890A>T	gnomAD
CECR2	Q9BXF3	p.Leu667Phe	rs1475550938	missense variant	-	NC_000022.11:g.17541895G>T	TOPMed
CECR2	Q9BXF3	p.Tyr668Phe	rs1299542119	missense variant	-	NC_000022.11:g.17541897A>T	gnomAD
CECR2	Q9BXF3	p.Gly669Arg	rs755269189	missense variant	-	NC_000022.11:g.17541899G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser670Phe	rs779400927	missense variant	-	NC_000022.11:g.17541903C>T	ExAC
CECR2	Q9BXF3	p.Ser671Tyr	rs1204197550	missense variant	-	NC_000022.11:g.17541906C>A	gnomAD
CECR2	Q9BXF3	p.Pro674Ser	COSM3551985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17541914C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro674Arg	rs1296794	missense variant	-	NC_000022.11:g.17541915C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro674Leu	rs1296794	missense variant	-	NC_000022.11:g.17541915C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro674Leu	rs1296794	missense variant	-	NC_000022.11:g.17541915C>T	UniProt,dbSNP
CECR2	Q9BXF3	p.Pro674Leu	VAR_027412	missense variant	-	NC_000022.11:g.17541915C>T	UniProt
CECR2	Q9BXF3	p.Glu675Lys	rs1191672133	missense variant	-	NC_000022.11:g.17541917G>A	gnomAD
CECR2	Q9BXF3	p.Glu675Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.17541917G>T	NCI-TCGA
CECR2	Q9BXF3	p.His677Gln	rs771156133	missense variant	-	NC_000022.11:g.17541925C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.His677Tyr	rs1430973376	missense variant	-	NC_000022.11:g.17541923C>T	gnomAD
CECR2	Q9BXF3	p.Pro678Leu	rs1370788467	missense variant	-	NC_000022.11:g.17541927C>T	gnomAD
CECR2	Q9BXF3	p.Gly679Arg	rs572732838	missense variant	-	NC_000022.11:g.17541929G>A	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly679Trp	rs572732838	missense variant	-	NC_000022.11:g.17541929G>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly679Arg	rs572732838	missense variant	-	NC_000022.11:g.17541929G>A	NCI-TCGA
CECR2	Q9BXF3	p.Glu680Lys	rs1367817961	missense variant	-	NC_000022.11:g.17541932G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Val682Leu	rs1366065586	missense variant	-	NC_000022.11:g.17541938G>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Val682Met	rs1366065586	missense variant	-	NC_000022.11:g.17541938G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln683Lys	rs1298350373	missense variant	-	NC_000022.11:g.17541941C>A	gnomAD
CECR2	Q9BXF3	p.Arg685His	rs144027854	missense variant	-	NC_000022.11:g.17541948G>A	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg685Leu	rs144027854	missense variant	-	NC_000022.11:g.17541948G>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg685Pro	rs144027854	missense variant	-	NC_000022.11:g.17541948G>C	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg685Cys	rs1226457825	missense variant	-	NC_000022.11:g.17541947C>T	gnomAD
CECR2	Q9BXF3	p.Arg685Cys	rs1226457825	missense variant	-	NC_000022.11:g.17541947C>T	NCI-TCGA
CECR2	Q9BXF3	p.Gln686Arg	rs1319406461	missense variant	-	NC_000022.11:g.17541951A>G	TOPMed
CECR2	Q9BXF3	p.Thr689Ala	rs760159046	missense variant	-	NC_000022.11:g.17541959A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met690Val	rs1221966970	missense variant	-	NC_000022.11:g.17541962A>G	gnomAD
CECR2	Q9BXF3	p.Met690Leu	rs1221966970	missense variant	-	NC_000022.11:g.17541962A>C	gnomAD
CECR2	Q9BXF3	p.Pro693Leu	rs773104468	missense variant	-	NC_000022.11:g.17542161C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro693Ser	rs1238851558	missense variant	-	NC_000022.11:g.17542160C>T	gnomAD
CECR2	Q9BXF3	p.Val694Gly	rs1163098601	missense variant	-	NC_000022.11:g.17542164T>G	gnomAD
CECR2	Q9BXF3	p.Gly695Glu	rs1459322621	missense variant	-	NC_000022.11:g.17542167G>A	gnomAD
CECR2	Q9BXF3	p.Asn697Ser	rs935566022	missense variant	-	NC_000022.11:g.17542173A>G	TOPMed
CECR2	Q9BXF3	p.Ser698Arg	rs770335358	missense variant	-	NC_000022.11:g.17542175A>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg700Ter	rs1338704895	stop gained	-	NC_000022.11:g.17542181C>T	gnomAD
CECR2	Q9BXF3	p.Arg700Gln	rs374288835	missense variant	-	NC_000022.11:g.17542182G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly701Arg	rs1447550873	missense variant	-	NC_000022.11:g.17542184G>A	gnomAD
CECR2	Q9BXF3	p.Pro702Thr	rs200166225	missense variant	-	NC_000022.11:g.17542187C>A	NCI-TCGA
CECR2	Q9BXF3	p.Pro702His	rs1376654868	missense variant	-	NC_000022.11:g.17542188C>A	gnomAD
CECR2	Q9BXF3	p.Pro702Leu	rs1376654868	missense variant	-	NC_000022.11:g.17542188C>T	gnomAD
CECR2	Q9BXF3	p.Pro702Thr	rs200166225	missense variant	-	NC_000022.11:g.17542187C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg703Ser	rs80293963	missense variant	-	NC_000022.11:g.17542192G>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly705Asp	rs915492918	missense variant	-	NC_000022.11:g.17542197G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr706Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542200C>T	NCI-TCGA
CECR2	Q9BXF3	p.Pro707Ser	rs1328315232	missense variant	-	NC_000022.11:g.17542202C>T	gnomAD
CECR2	Q9BXF3	p.Pro707Leu	rs763386899	missense variant	-	NC_000022.11:g.17542203C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro707Arg	rs763386899	missense variant	-	NC_000022.11:g.17542203C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu709Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542208G>A	NCI-TCGA
CECR2	Q9BXF3	p.Lys710Asn	rs370552803	missense variant	-	NC_000022.11:g.17542213G>C	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys710Asn	rs370552803	missense variant	-	NC_000022.11:g.17542213G>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met712Thr	rs757893194	missense variant	-	NC_000022.11:g.17542218T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly714Arg	rs375149434	missense variant	-	NC_000022.11:g.17542223G>A	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Gly714Arg	rs375149434	missense variant	-	NC_000022.11:g.17542223G>A	NCI-TCGA
CECR2	Q9BXF3	p.Gly715Val	rs375154158	missense variant	-	NC_000022.11:g.17542227G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly715Glu	rs375154158	missense variant	-	NC_000022.11:g.17542227G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly715Arg	rs756173954	missense variant	-	NC_000022.11:g.17542226G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu719Val	rs1045477060	missense variant	-	NC_000022.11:g.17542238C>G	TOPMed
CECR2	Q9BXF3	p.Leu719Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542238C>A	NCI-TCGA
CECR2	Q9BXF3	p.Asn721Asp	rs1241227407	missense variant	-	NC_000022.11:g.17542244A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Met722Val	rs62623401	missense variant	-	NC_000022.11:g.17542247A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met722Leu	rs62623401	missense variant	-	NC_000022.11:g.17542247A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro724Leu	rs749506545	missense variant	-	NC_000022.11:g.17542254C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.His725Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542257A>G	NCI-TCGA
CECR2	Q9BXF3	p.Gly727Glu	rs1414158079	missense variant	-	NC_000022.11:g.17542263G>A	gnomAD
CECR2	Q9BXF3	p.Leu729Ser	rs201344281	missense variant	-	NC_000022.11:g.17542269T>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu731Pro	rs1280553036	missense variant	-	NC_000022.11:g.17542275T>C	TOPMed
CECR2	Q9BXF3	p.Gly732Trp	COSM4102431	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542277G>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Gly732Arg	rs555150747	missense variant	-	NC_000022.11:g.17542277G>C	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly732Glu	rs1350565538	missense variant	-	NC_000022.11:g.17542278G>A	TOPMed
CECR2	Q9BXF3	p.Ile734Val	COSM1647462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542283A>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser735Ile	rs776463702	missense variant	-	NC_000022.11:g.17542287G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser738Arg	rs1352016434	missense variant	-	NC_000022.11:g.17542295A>C	TOPMed
CECR2	Q9BXF3	p.Gln739Glu	COSM461172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542298C>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Asp740Val	rs1349857911	missense variant	-	NC_000022.11:g.17542302A>T	gnomAD
CECR2	Q9BXF3	p.Asp740Gly	rs1349857911	missense variant	-	NC_000022.11:g.17542302A>G	gnomAD
CECR2	Q9BXF3	p.Gly741Glu	rs1191664064	missense variant	-	NC_000022.11:g.17542305G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly741Arg	rs745331512	missense variant	-	NC_000022.11:g.17542304G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser742Asn	rs1276150251	missense variant	-	NC_000022.11:g.17542308G>A	gnomAD
CECR2	Q9BXF3	p.Met743Ile	rs775249697	missense variant	-	NC_000022.11:g.17542312G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Met743Thr	rs769235781	missense variant	-	NC_000022.11:g.17542311T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Met743Val	rs1345084527	missense variant	-	NC_000022.11:g.17542310A>G	gnomAD
CECR2	Q9BXF3	p.Ala745Val	COSM2891277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542317C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro746Leu	rs1206330223	missense variant	-	NC_000022.11:g.17542320C>T	gnomAD
CECR2	Q9BXF3	p.Gln748Arg	rs764536216	missense variant	-	NC_000022.11:g.17542326A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln748Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.17542325C>T	NCI-TCGA
CECR2	Q9BXF3	p.Phe749Leu	rs1471932703	missense variant	-	NC_000022.11:g.17542330C>G	gnomAD
CECR2	Q9BXF3	p.Gln750Ter	rs1201602380	stop gained	-	NC_000022.11:g.17542331C>T	gnomAD
CECR2	Q9BXF3	p.Pro751Ala	rs774795910	missense variant	-	NC_000022.11:g.17542334C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly752Val	COSM4837292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542338G>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ile754Thr	rs1035802887	missense variant	-	NC_000022.11:g.17542344T>C	gnomAD
CECR2	Q9BXF3	p.Ile754Val	rs1170827944	missense variant	-	NC_000022.11:g.17542343A>G	gnomAD
CECR2	Q9BXF3	p.Ile754Met	rs1430634394	missense variant	-	NC_000022.11:g.17542345T>G	gnomAD
CECR2	Q9BXF3	p.Ile754Ser	rs1035802887	missense variant	-	NC_000022.11:g.17542344T>G	gnomAD
CECR2	Q9BXF3	p.Pro755Ala	rs768023446	missense variant	-	NC_000022.11:g.17542346C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro755Ser	COSM3551987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542346C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro755Leu	rs1003666211	missense variant	-	NC_000022.11:g.17542347C>T	TOPMed
CECR2	Q9BXF3	p.Pro755Leu	rs1003666211	missense variant	-	NC_000022.11:g.17542347C>T	NCI-TCGA
CECR2	Q9BXF3	p.Pro756Ala	rs756191428	missense variant	-	NC_000022.11:g.17542349C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg757Gln	rs766437636	missense variant	-	NC_000022.11:g.17542353G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg757Trp	rs1325472870	missense variant	-	NC_000022.11:g.17542352C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.His758Tyr	rs1160985415	missense variant	-	NC_000022.11:g.17542355C>T	TOPMed
CECR2	Q9BXF3	p.His758Arg	rs754048814	missense variant	-	NC_000022.11:g.17542356A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly759Glu	rs751314301	missense variant	-	NC_000022.11:g.17542359G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly759Ala	rs751314301	missense variant	-	NC_000022.11:g.17542359G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly759Trp	rs779112675	missense variant	-	NC_000022.11:g.17542358G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly760Glu	rs779765763	missense variant	-	NC_000022.11:g.17542362G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala761Thr	rs965763745	missense variant	-	NC_000022.11:g.17542364G>A	TOPMed
CECR2	Q9BXF3	p.Ala763Val	rs191800029	missense variant	-	NC_000022.11:g.17542371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala763Ser	rs762217568	missense variant	-	NC_000022.11:g.17542370G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala763Ser	rs762217568	missense variant	-	NC_000022.11:g.17542370G>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg764Gln	rs144189023	missense variant	-	NC_000022.11:g.17542374G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg764Trp	rs1196925978	missense variant	-	NC_000022.11:g.17542373C>T	gnomAD
CECR2	Q9BXF3	p.Pro766Leu	rs761145068	missense variant	-	NC_000022.11:g.17542380C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp767Glu	rs1388502180	missense variant	-	NC_000022.11:g.17542384C>A	gnomAD
CECR2	Q9BXF3	p.Asp767Asn	rs1168176424	missense variant	-	NC_000022.11:g.17542382G>A	gnomAD
CECR2	Q9BXF3	p.Phe768Leu	rs1288080187	missense variant	-	NC_000022.11:g.17542385T>C	TOPMed
CECR2	Q9BXF3	p.Pro769Ser	rs753849827	missense variant	-	NC_000022.11:g.17542388C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro769Ala	rs753849827	missense variant	-	NC_000022.11:g.17542388C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro769Arg	rs560689415	missense variant	-	NC_000022.11:g.17542389C>G	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Pro769Ser	rs753849827	missense variant	-	NC_000022.11:g.17542388C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser772Ala	rs765393163	missense variant	-	NC_000022.11:g.17542397T>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu773Gly	rs1366697940	missense variant	-	NC_000022.11:g.17542401A>G	gnomAD
CECR2	Q9BXF3	p.Glu773Lys	rs752966485	missense variant	-	NC_000022.11:g.17542400G>A	ExAC
CECR2	Q9BXF3	p.Ile774Thr	rs757045032	missense variant	-	NC_000022.11:g.17542404T>C	ExAC
CECR2	Q9BXF3	p.Pro776Ala	rs755944490	missense variant	-	NC_000022.11:g.17542409C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro776His	rs1460829754	missense variant	-	NC_000022.11:g.17542410C>A	TOPMed
CECR2	Q9BXF3	p.Pro776Ser	rs755944490	missense variant	-	NC_000022.11:g.17542409C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser777Gly	rs780142096	missense variant	-	NC_000022.11:g.17542412A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser777Arg	rs1208546091	missense variant	-	NC_000022.11:g.17542414C>G	gnomAD
CECR2	Q9BXF3	p.His778Arg	rs748762083	missense variant	-	NC_000022.11:g.17542416A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Met779Thr	rs374914535	missense variant	-	NC_000022.11:g.17542419T>C	ESP,TOPMed
CECR2	Q9BXF3	p.Tyr780Cys	rs199565531	missense variant	-	NC_000022.11:g.17542422A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr780His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542421T>C	NCI-TCGA
CECR2	Q9BXF3	p.Arg781Ter	COSM2891287	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17542424C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg781Gln	rs372510090	missense variant	-	NC_000022.11:g.17542425G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser782Leu	rs1425721045	missense variant	-	NC_000022.11:g.17542428C>T	gnomAD
CECR2	Q9BXF3	p.Tyr783Cys	rs1244171757	missense variant	-	NC_000022.11:g.17542431A>G	TOPMed
CECR2	Q9BXF3	p.Asn787Ser	rs1371508220	missense variant	-	NC_000022.11:g.17542443A>G	gnomAD
CECR2	Q9BXF3	p.Asn787Lys	rs773392224	missense variant	-	NC_000022.11:g.17542444T>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg788Gln	rs375582437	missense variant	-	NC_000022.11:g.17542446G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg788Ter	rs867067950	stop gained	-	NC_000022.11:g.17542445C>T	TOPMed
CECR2	Q9BXF3	p.Arg788Gly	rs867067950	missense variant	-	NC_000022.11:g.17542445C>G	TOPMed
CECR2	Q9BXF3	p.Arg788Ter	rs867067950	stop gained	-	NC_000022.11:g.17542445C>T	NCI-TCGA
CECR2	Q9BXF3	p.His790Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542451C>T	NCI-TCGA
CECR2	Q9BXF3	p.Ser791Cys	rs771388012	missense variant	-	NC_000022.11:g.17542455C>G	ExAC
CECR2	Q9BXF3	p.Ser791Cys	rs771388012	missense variant	-	NC_000022.11:g.17542455C>G	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser791Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542455C>A	NCI-TCGA
CECR2	Q9BXF3	p.Ala792Val	rs183626253	missense variant	-	NC_000022.11:g.17542458C>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val793Ile	rs893590232	missense variant	-	NC_000022.11:g.17542460G>A	gnomAD
CECR2	Q9BXF3	p.Val793Ile	rs893590232	missense variant	-	NC_000022.11:g.17542460G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Trp794Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.17542465G>A	NCI-TCGA
CECR2	Q9BXF3	p.His798Tyr	rs752958150	missense variant	-	NC_000022.11:g.17542475C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly799Val	rs373814902	missense variant	-	NC_000022.11:g.17542479G>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala800Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542482C>A	NCI-TCGA
CECR2	Q9BXF3	p.Thr801Ala	rs188173829	missense variant	-	NC_000022.11:g.17542484A>G	NCI-TCGA
CECR2	Q9BXF3	p.Thr801Ala	rs188173829	missense variant	-	NC_000022.11:g.17542484A>G	1000Genomes,gnomAD
CECR2	Q9BXF3	p.Thr801Met	rs764385664	missense variant	-	NC_000022.11:g.17542485C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln803Glu	rs756001932	missense variant	-	NC_000022.11:g.17542490C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Leu806Val	COSM3842139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542499T>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Leu806Ser	rs1395057392	missense variant	-	NC_000022.11:g.17542500T>C	TOPMed
CECR2	Q9BXF3	p.Pro808Leu	rs1484398236	missense variant	-	NC_000022.11:g.17542506C>T	gnomAD
CECR2	Q9BXF3	p.Pro808Ser	rs1259026427	missense variant	-	NC_000022.11:g.17542505C>T	gnomAD
CECR2	Q9BXF3	p.Lys811Asn	rs1185478111	missense variant	-	NC_000022.11:g.17542516G>T	gnomAD
CECR2	Q9BXF3	p.Lys811Glu	rs754535050	missense variant	-	NC_000022.11:g.17542514A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro812Thr	rs1414112929	missense variant	-	NC_000022.11:g.17542517C>A	gnomAD
CECR2	Q9BXF3	p.Gly815Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542526G>A	NCI-TCGA
CECR2	Q9BXF3	p.Pro816Arg	rs552193684	missense variant	-	NC_000022.11:g.17542530C>G	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Pro816Leu	rs552193684	missense variant	-	NC_000022.11:g.17542530C>T	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Ser819Ala	rs1467304016	missense variant	-	NC_000022.11:g.17542538T>G	gnomAD
CECR2	Q9BXF3	p.His820Arg	rs1401005512	missense variant	-	NC_000022.11:g.17542542A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.His820Gln	rs777514261	missense variant	-	NC_000022.11:g.17542543C>A	ExAC,gnomAD
CECR2	Q9BXF3	p.His820Tyr	rs760278050	missense variant	-	NC_000022.11:g.17542541C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln821Arg	rs1290532844	missense variant	-	NC_000022.11:g.17542545A>G	gnomAD
CECR2	Q9BXF3	p.Arg823Cys	rs771332466	missense variant	-	NC_000022.11:g.17542550C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg823His	rs777090706	missense variant	-	NC_000022.11:g.17542551G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg823Cys	rs771332466	missense variant	-	NC_000022.11:g.17542550C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Thr824Asn	rs1422176388	missense variant	-	NC_000022.11:g.17542554C>A	TOPMed
CECR2	Q9BXF3	p.Thr824Ala	rs769848412	missense variant	-	NC_000022.11:g.17542553A>G	ExAC
CECR2	Q9BXF3	p.Thr824Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542554C>T	NCI-TCGA
CECR2	Q9BXF3	p.Leu825Val	rs376789433	missense variant	-	NC_000022.11:g.17542556C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu825Phe	rs376789433	missense variant	-	NC_000022.11:g.17542556C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu825ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17542557T>-	NCI-TCGA
CECR2	Q9BXF3	p.Gly826Ser	rs897928746	missense variant	-	NC_000022.11:g.17542559G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.His827Tyr	rs531781031	missense variant	-	NC_000022.11:g.17542562C>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.His827Asp	rs531781031	missense variant	-	NC_000022.11:g.17542562C>G	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val828Leu	rs748730538	missense variant	-	NC_000022.11:g.17542565G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val828Met	rs748730538	missense variant	-	NC_000022.11:g.17542565G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser831Phe	rs1049374823	missense variant	-	NC_000022.11:g.17542575C>T	TOPMed
CECR2	Q9BXF3	p.Arg832Ter	COSM1647459	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17542577C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg832Gly	rs1309474000	missense variant	-	NC_000022.11:g.17542577C>G	TOPMed
CECR2	Q9BXF3	p.Arg832Gln	rs754905189	missense variant	-	NC_000022.11:g.17542578G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg835Gly	rs1405641894	missense variant	-	NC_000022.11:g.17542586A>G	gnomAD
CECR2	Q9BXF3	p.Pro837Ser	rs1233212895	missense variant	-	NC_000022.11:g.17542592C>T	TOPMed
CECR2	Q9BXF3	p.Pro837Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542593C>T	NCI-TCGA
CECR2	Q9BXF3	p.Val838Ala	rs1371677722	missense variant	-	NC_000022.11:g.17542596T>C	TOPMed
CECR2	Q9BXF3	p.Val838Phe	rs548687461	missense variant	-	NC_000022.11:g.17542595G>T	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Pro839Ser	rs61740316	missense variant	-	NC_000022.11:g.17542598C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro839Ala	rs61740316	missense variant	-	NC_000022.11:g.17542598C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro840Thr	rs377545671	missense variant	-	NC_000022.11:g.17542601C>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro840Leu	rs370474804	missense variant	-	NC_000022.11:g.17542602C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro840Ala	rs377545671	missense variant	-	NC_000022.11:g.17542601C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro840His	rs370474804	missense variant	-	NC_000022.11:g.17542602C>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro840Ser	rs377545671	missense variant	-	NC_000022.11:g.17542601C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro840Arg	rs370474804	missense variant	-	NC_000022.11:g.17542602C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asn841Ser	rs746241065	missense variant	-	NC_000022.11:g.17542605A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Asn841ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17542597C>-	NCI-TCGA
CECR2	Q9BXF3	p.Asn841GlnPheSerTerUnk	rs754411618	frameshift	-	NC_000022.11:g.17542596_17542597insC	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Trp843Cys	rs1172166838	missense variant	-	NC_000022.11:g.17542612G>C	TOPMed
CECR2	Q9BXF3	p.Trp843Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542611G>T	NCI-TCGA
CECR2	Q9BXF3	p.Thr844Ala	rs763476560	missense variant	-	NC_000022.11:g.17542613A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu845Lys	rs1396048894	missense variant	-	NC_000022.11:g.17542616G>A	TOPMed
CECR2	Q9BXF3	p.Gln846His	rs768824476	missense variant	-	NC_000022.11:g.17542621A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln846Leu	rs534308593	missense variant	-	NC_000022.11:g.17542620A>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln846Ter	rs1219889810	stop gained	-	NC_000022.11:g.17542619C>T	gnomAD
CECR2	Q9BXF3	p.Ser847Ala	rs1417849839	missense variant	-	NC_000022.11:g.17542622T>G	TOPMed
CECR2	Q9BXF3	p.Gly848Cys	rs1276575213	missense variant	-	NC_000022.11:g.17542625G>T	gnomAD
CECR2	Q9BXF3	p.Gly848Val	rs1249984919	missense variant	-	NC_000022.11:g.17542626G>T	TOPMed
CECR2	Q9BXF3	p.Phe849Ile	rs1483273164	missense variant	-	NC_000022.11:g.17542628T>A	gnomAD
CECR2	Q9BXF3	p.Phe849Tyr	rs1203509755	missense variant	-	NC_000022.11:g.17542629T>A	gnomAD
CECR2	Q9BXF3	p.His852Arg	rs767869496	missense variant	-	NC_000022.11:g.17542638A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro855Leu	rs1481746506	missense variant	-	NC_000022.11:g.17542647C>T	TOPMed
CECR2	Q9BXF3	p.Ser856Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542650C>T	NCI-TCGA
CECR2	Q9BXF3	p.Gly858Glu	rs1452227691	missense variant	-	NC_000022.11:g.17542656G>A	gnomAD
CECR2	Q9BXF3	p.Met860Leu	rs765038064	missense variant	-	NC_000022.11:g.17542661A>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met860Val	rs765038064	missense variant	-	NC_000022.11:g.17542661A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met860Ile	rs973585534	missense variant	-	NC_000022.11:g.17542663G>A	gnomAD
CECR2	Q9BXF3	p.Arg861Gln	rs1390347431	missense variant	-	NC_000022.11:g.17542665G>A	gnomAD
CECR2	Q9BXF3	p.Arg861Gln	rs1390347431	missense variant	-	NC_000022.11:g.17542665G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro862Leu	rs762336876	missense variant	-	NC_000022.11:g.17542668C>T	NCI-TCGA
CECR2	Q9BXF3	p.Pro862Leu	rs762336876	missense variant	-	NC_000022.11:g.17542668C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro862Thr	rs752731044	missense variant	-	NC_000022.11:g.17542667C>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro863Ser	COSM256603	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542670C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro863His	rs751199504	missense variant	-	NC_000022.11:g.17542671C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser866Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542680C>A	NCI-TCGA
CECR2	Q9BXF3	p.Ala867Val	rs750743419	missense variant	-	NC_000022.11:g.17542683C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly868Arg	rs570964077	missense variant	-	NC_000022.11:g.17542685G>A	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.His869Arg	rs749874860	missense variant	-	NC_000022.11:g.17542689A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg870Gln	rs778996983	missense variant	-	NC_000022.11:g.17542692G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg870Trp	rs768608640	missense variant	-	NC_000022.11:g.17542691C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro873Arg	rs1272039825	missense variant	-	NC_000022.11:g.17542701C>G	gnomAD
CECR2	Q9BXF3	p.Pro874Ser	rs1466576763	missense variant	-	NC_000022.11:g.17542703C>T	gnomAD
CECR2	Q9BXF3	p.Pro874Leu	rs1414986222	missense variant	-	NC_000022.11:g.17542704C>T	TOPMed
CECR2	Q9BXF3	p.Ser880Gly	rs772379155	missense variant	-	NC_000022.11:g.17542721A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Leu882Phe	rs1474842980	missense variant	-	NC_000022.11:g.17542729G>C	TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu882Ser	rs946569452	missense variant	-	NC_000022.11:g.17542728T>C	TOPMed
CECR2	Q9BXF3	p.Gly884Arg	rs1185214882	missense variant	-	NC_000022.11:g.17542733G>A	gnomAD
CECR2	Q9BXF3	p.Gly884Val	rs773592361	missense variant	-	NC_000022.11:g.17542734G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly884Glu	rs773592361	missense variant	-	NC_000022.11:g.17542734G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala885Val	rs371155032	missense variant	-	NC_000022.11:g.17542737C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala887Val	rs375454384	missense variant	-	NC_000022.11:g.17542743C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala887Gly	rs375454384	missense variant	-	NC_000022.11:g.17542743C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln888His	rs763004900	missense variant	-	NC_000022.11:g.17542747G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg891Gln	rs540078259	missense variant	-	NC_000022.11:g.17542755G>A	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg891Trp	rs763950393	missense variant	-	NC_000022.11:g.17542754C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg891Trp	rs763950393	missense variant	-	NC_000022.11:g.17542754C>T	NCI-TCGA
CECR2	Q9BXF3	p.Gly892Trp	COSM6094736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542757G>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Gly892Val	rs919306125	missense variant	-	NC_000022.11:g.17542758G>T	TOPMed
CECR2	Q9BXF3	p.Gly892Arg	rs1268237122	missense variant	-	NC_000022.11:g.17542757G>C	TOPMed,gnomAD
CECR2	Q9BXF3	p.Val893CysPheSerTerUnk	COSM5366376	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17542755G>-	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Val893Leu	rs574882726	missense variant	-	NC_000022.11:g.17542760G>C	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly895Arg	rs750122881	missense variant	-	NC_000022.11:g.17542766G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly895Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542767G>A	NCI-TCGA
CECR2	Q9BXF3	p.Gly896Arg	rs1261197009	missense variant	-	NC_000022.11:g.17542769G>C	TOPMed
CECR2	Q9BXF3	p.Asp897Tyr	rs756433243	missense variant	-	NC_000022.11:g.17542772G>T	ExAC
CECR2	Q9BXF3	p.Met899Val	rs371894172	missense variant	-	NC_000022.11:g.17542778A>G	ESP,TOPMed
CECR2	Q9BXF3	p.Met899Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542780G>T	NCI-TCGA
CECR2	Q9BXF3	p.Met900Ile	rs1332083228	missense variant	-	NC_000022.11:g.17542783G>A	TOPMed
CECR2	Q9BXF3	p.Asp901Asn	rs375046067	missense variant	-	NC_000022.11:g.17542784G>A	ESP,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp901Gly	rs1233586469	missense variant	-	NC_000022.11:g.17542785A>G	TOPMed
CECR2	Q9BXF3	p.Ser902Arg	rs1268190307	missense variant	-	NC_000022.11:g.17542789C>A	gnomAD
CECR2	Q9BXF3	p.Ser902Arg	rs1268190307	missense variant	-	NC_000022.11:g.17542789C>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Met905Ile	rs1238797754	missense variant	-	NC_000022.11:g.17542798G>T	gnomAD
CECR2	Q9BXF3	p.Ile906Thr	rs895797338	missense variant	-	NC_000022.11:g.17542800T>C	gnomAD
CECR2	Q9BXF3	p.Ala907Val	rs751991001	missense variant	-	NC_000022.11:g.17542803C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala907Val	rs751991001	missense variant	-	NC_000022.11:g.17542803C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Met908Ile	rs1040239492	missense variant	-	NC_000022.11:g.17542807G>C	TOPMed
CECR2	Q9BXF3	p.Leu911Pro	rs748190052	missense variant	-	NC_000022.11:g.17542815T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser912Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542818C>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg914His	rs749037630	missense variant	-	NC_000022.11:g.17542824G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg914Cys	rs371506365	missense variant	-	NC_000022.11:g.17542823C>T	ESP,ExAC,TOPMed
CECR2	Q9BXF3	p.Val915Ile	rs554165872	missense variant	-	NC_000022.11:g.17542826G>A	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Cys916Arg	rs1448484952	missense variant	-	NC_000022.11:g.17542829T>C	gnomAD
CECR2	Q9BXF3	p.Cys916Phe	rs1292384319	missense variant	-	NC_000022.11:g.17542830G>T	gnomAD
CECR2	Q9BXF3	p.Cys916Phe	rs1292384319	missense variant	-	NC_000022.11:g.17542830G>T	NCI-TCGA
CECR2	Q9BXF3	p.Pro917Leu	rs772841909	missense variant	-	NC_000022.11:g.17542833C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro917Ala	rs761287576	missense variant	-	NC_000022.11:g.17542832C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro917Ser	rs761287576	missense variant	-	NC_000022.11:g.17542832C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro917Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542832C>A	NCI-TCGA
CECR2	Q9BXF3	p.Pro918Leu	rs574162099	missense variant	-	NC_000022.11:g.17542836C>T	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Pro918Arg	rs574162099	missense variant	-	NC_000022.11:g.17542836C>G	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Pro918Gln	rs574162099	missense variant	-	NC_000022.11:g.17542836C>A	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Gly919Asp	rs1349361488	missense variant	-	NC_000022.11:g.17542839G>A	gnomAD
CECR2	Q9BXF3	p.Val920Met	rs1221535417	missense variant	-	NC_000022.11:g.17542841G>A	gnomAD
CECR2	Q9BXF3	p.Pro924Ala	rs754190762	missense variant	-	NC_000022.11:g.17542853C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.His925Pro	rs753298554	missense variant	-	NC_000022.11:g.17542857A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.His925Asn	rs374991571	missense variant	-	NC_000022.11:g.17542856C>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln926Arg	rs758545887	missense variant	-	NC_000022.11:g.17542860A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.His929Arg	rs781296557	missense variant	-	NC_000022.11:g.17542869A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.His929Gln	rs749059089	missense variant	-	NC_000022.11:g.17542870C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.His929Asp	rs757433754	missense variant	-	NC_000022.11:g.17542868C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro930Leu	COSM3551995	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17542872C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro930Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542871C>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg931His	rs371679902	missense variant	-	NC_000022.11:g.17542875G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg931Cys	rs774238904	missense variant	-	NC_000022.11:g.17542874C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg931His	rs371679902	missense variant	-	NC_000022.11:g.17542875G>A	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg931Cys	rs774238904	missense variant	-	NC_000022.11:g.17542874C>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg931LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17542874_17542875insT	NCI-TCGA
CECR2	Q9BXF3	p.Leu932Ser	rs1411378531	missense variant	-	NC_000022.11:g.17542878T>C	gnomAD
CECR2	Q9BXF3	p.Phe936Ile	rs1335032436	missense variant	-	NC_000022.11:g.17542889T>A	gnomAD
CECR2	Q9BXF3	p.Pro937Ser	rs1236274713	missense variant	-	NC_000022.11:g.17542892C>T	gnomAD
CECR2	Q9BXF3	p.Pro937Leu	rs772013265	missense variant	-	NC_000022.11:g.17542893C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro937Ser	rs1236274713	missense variant	-	NC_000022.11:g.17542892C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Val939Leu	rs373510634	missense variant	-	NC_000022.11:g.17542898G>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala940Thr	rs1278695778	missense variant	-	NC_000022.11:g.17542901G>A	gnomAD
CECR2	Q9BXF3	p.Ala940Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542901G>T	NCI-TCGA
CECR2	Q9BXF3	p.His941Arg	rs766008292	missense variant	-	NC_000022.11:g.17542905A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.His941Arg	rs766008292	missense variant	-	NC_000022.11:g.17542905A>G	NCI-TCGA
CECR2	Q9BXF3	p.Pro942Ala	rs1250439461	missense variant	-	NC_000022.11:g.17542907C>G	gnomAD
CECR2	Q9BXF3	p.Pro942Arg	rs1436518987	missense variant	-	NC_000022.11:g.17542908C>G	gnomAD
CECR2	Q9BXF3	p.Met943Val	rs759916074	missense variant	-	NC_000022.11:g.17542910A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser944Thr	rs1247358202	missense variant	-	NC_000022.11:g.17542913T>A	gnomAD
CECR2	Q9BXF3	p.Val945Ala	rs1454037670	missense variant	-	NC_000022.11:g.17542917T>C	gnomAD
CECR2	Q9BXF3	p.Thr946Ile	rs765766105	missense variant	-	NC_000022.11:g.17542920C>T	ExAC,TOPMed
CECR2	Q9BXF3	p.Val947Gly	rs1431404739	missense variant	-	NC_000022.11:g.17542923T>G	gnomAD
CECR2	Q9BXF3	p.Val947Ala	rs1431404739	missense variant	-	NC_000022.11:g.17542923T>C	gnomAD
CECR2	Q9BXF3	p.Val947Leu	rs1476064838	missense variant	-	NC_000022.11:g.17542922G>T	gnomAD
CECR2	Q9BXF3	p.Ala949Ser	rs1325305380	missense variant	-	NC_000022.11:g.17542928G>T	TOPMed
CECR2	Q9BXF3	p.Lys951Arg	rs758915481	missense variant	-	NC_000022.11:g.17542935A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala953Thr	rs764701990	missense variant	-	NC_000022.11:g.17542940G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala953Ser	rs764701990	missense variant	-	NC_000022.11:g.17542940G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala953Pro	rs764701990	missense variant	-	NC_000022.11:g.17542940G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asn956Tyr	rs751613694	missense variant	-	NC_000022.11:g.17542949A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro957Leu	rs1439453680	missense variant	-	NC_000022.11:g.17542953C>T	gnomAD
CECR2	Q9BXF3	p.Pro957LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17542951C>-	NCI-TCGA
CECR2	Q9BXF3	p.Gly958Arg	rs369725349	missense variant	-	NC_000022.11:g.17542955G>A	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.Ala960Thr	rs753114764	missense variant	-	NC_000022.11:g.17542961G>A	gnomAD
CECR2	Q9BXF3	p.Pro961Leu	rs754756829	missense variant	-	NC_000022.11:g.17542965C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro961Ser	rs577013970	missense variant	-	NC_000022.11:g.17542964C>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro961Leu	rs754756829	missense variant	-	NC_000022.11:g.17542965C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Glu962Lys	rs1212118850	missense variant	-	NC_000022.11:g.17542967G>A	gnomAD
CECR2	Q9BXF3	p.Glu962Lys	rs1212118850	missense variant	-	NC_000022.11:g.17542967G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Asn963Ile	rs1291161615	missense variant	-	NC_000022.11:g.17542971A>T	gnomAD
CECR2	Q9BXF3	p.Ser964Gly	rs1190205803	missense variant	-	NC_000022.11:g.17542973A>G	TOPMed
CECR2	Q9BXF3	p.Glu968Lys	rs1250155010	missense variant	-	NC_000022.11:g.17542985G>A	gnomAD
CECR2	Q9BXF3	p.Glu968Gln	rs1250155010	missense variant	-	NC_000022.11:g.17542985G>C	gnomAD
CECR2	Q9BXF3	p.Glu968Lys	rs1250155010	missense variant	-	NC_000022.11:g.17542985G>A	NCI-TCGA
CECR2	Q9BXF3	p.Glu968Gln	rs1250155010	missense variant	-	NC_000022.11:g.17542985G>C	NCI-TCGA
CECR2	Q9BXF3	p.Pro969Ala	rs1452511860	missense variant	-	NC_000022.11:g.17542988C>G	TOPMed
CECR2	Q9BXF3	p.Glu970Lys	rs771961965	missense variant	-	NC_000022.11:g.17542991G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu970Lys	rs771961965	missense variant	-	NC_000022.11:g.17542991G>A	NCI-TCGA
CECR2	Q9BXF3	p.Asp972Tyr	rs1252258606	missense variant	-	NC_000022.11:g.17542997G>T	TOPMed
CECR2	Q9BXF3	p.Asp972Gly	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17542998A>G	NCI-TCGA
CECR2	Q9BXF3	p.Gln973Arg	rs777593552	missense variant	-	NC_000022.11:g.17543001A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu975Lys	rs1355461835	missense variant	-	NC_000022.11:g.17548150G>A	gnomAD
CECR2	Q9BXF3	p.Pro976Leu	rs777735148	missense variant	-	NC_000022.11:g.17548154C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro976Ser	rs758238356	missense variant	-	NC_000022.11:g.17548153C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro976Arg	rs777735148	missense variant	-	NC_000022.11:g.17548154C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu977Phe	rs746987524	missense variant	-	NC_000022.11:g.17548158G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu977Met	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548156T>A	NCI-TCGA
CECR2	Q9BXF3	p.Pro984Ala	rs1326537227	missense variant	-	NC_000022.11:g.17548177C>G	TOPMed
CECR2	Q9BXF3	p.Pro984Arg	rs923181398	missense variant	-	NC_000022.11:g.17548178C>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro984Leu	rs923181398	missense variant	-	NC_000022.11:g.17548178C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro985Ser	rs1485325889	missense variant	-	NC_000022.11:g.17548180C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro985Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548180C>A	NCI-TCGA
CECR2	Q9BXF3	p.Gly986Arg	rs770463054	missense variant	-	NC_000022.11:g.17548183G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Val987Ile	rs1195959398	missense variant	-	NC_000022.11:g.17548186G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu991Gln	COSM2891315	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548198G>C	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Glu991Lys	rs780508638	missense variant	-	NC_000022.11:g.17548198G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly992Arg	rs1240821807	missense variant	-	NC_000022.11:g.17548201G>C	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly992Arg	rs1240821807	missense variant	-	NC_000022.11:g.17548201G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Val993Phe	rs769530792	missense variant	-	NC_000022.11:g.17548204G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr994Phe	rs1361762224	missense variant	-	NC_000022.11:g.17548208A>T	gnomAD
CECR2	Q9BXF3	p.Thr996Ser	rs775299608	missense variant	-	NC_000022.11:g.17548213A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr996Ile	rs1271482010	missense variant	-	NC_000022.11:g.17548214C>T	TOPMed
CECR2	Q9BXF3	p.Leu998Val	rs1340073398	missense variant	-	NC_000022.11:g.17548219C>G	TOPMed
CECR2	Q9BXF3	p.Leu998Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548220T>C	NCI-TCGA
CECR2	Q9BXF3	p.Pro999Leu	rs763383175	missense variant	-	NC_000022.11:g.17548223C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.His1000Gln	rs1390902820	missense variant	-	NC_000022.11:g.17548227C>A	gnomAD
CECR2	Q9BXF3	p.His1000Arg	rs1374600578	missense variant	-	NC_000022.11:g.17548226A>G	gnomAD
CECR2	Q9BXF3	p.Thr1002Ile	rs1304939038	missense variant	-	NC_000022.11:g.17548232C>T	gnomAD
CECR2	Q9BXF3	p.Leu1005Pro	rs1300127854	missense variant	-	NC_000022.11:g.17548241T>C	TOPMed
CECR2	Q9BXF3	p.Gln1006Ter	COSM1031855	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17548243C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Asp1008Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548249G>A	NCI-TCGA
CECR2	Q9BXF3	p.Cys1009Tyr	rs1174712019	missense variant	-	NC_000022.11:g.17548253G>A	gnomAD
CECR2	Q9BXF3	p.Thr1010Ile	rs774915476	missense variant	-	NC_000022.11:g.17548256C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr1010Pro	rs1370490767	missense variant	-	NC_000022.11:g.17548255A>C	TOPMed
CECR2	Q9BXF3	p.Thr1010Ser	rs774915476	missense variant	-	NC_000022.11:g.17548256C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1011Lys	rs1346908972	missense variant	-	NC_000022.11:g.17548259G>A	gnomAD
CECR2	Q9BXF3	p.Gln1012Arg	rs1208377079	missense variant	-	NC_000022.11:g.17548262A>G	gnomAD
CECR2	Q9BXF3	p.Ser1013Cys	rs572491894	missense variant	-	NC_000022.11:g.17548264A>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1014Ter	rs762171382	stop gained	-	NC_000022.11:g.17548268C>G	ExAC
CECR2	Q9BXF3	p.Pro1015Ser	rs1328023397	missense variant	-	NC_000022.11:g.17548270C>T	TOPMed
CECR2	Q9BXF3	p.Gln1016Lys	rs947142622	missense variant	-	NC_000022.11:g.17548273C>A	TOPMed
CECR2	Q9BXF3	p.Glu1017Lys	rs768076456	missense variant	-	NC_000022.11:g.17548276G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu1017Asp	rs750433289	missense variant	-	NC_000022.11:g.17548278A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg1018Lys	rs1434596142	missense variant	-	NC_000022.11:g.17548280G>A	gnomAD
CECR2	Q9BXF3	p.Val1021Met	rs766566344	missense variant	-	NC_000022.11:g.17548288G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1022Ser	rs899312781	missense variant	-	NC_000022.11:g.17548291G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1022Val	rs1170806305	missense variant	-	NC_000022.11:g.17548292G>T	gnomAD
CECR2	Q9BXF3	p.Pro1023Ala	rs754100190	missense variant	-	NC_000022.11:g.17548294C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1023Leu	rs370696488	missense variant	-	NC_000022.11:g.17548295C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys1026Thr	rs751381916	missense variant	-	NC_000022.11:g.17548304A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Lys1026Gln	rs1479206066	missense variant	-	NC_000022.11:g.17548303A>C	TOPMed
CECR2	Q9BXF3	p.Ser1028Thr	rs1302957898	missense variant	-	NC_000022.11:g.17548310G>C	gnomAD
CECR2	Q9BXF3	p.Ala1033Val	rs781220737	missense variant	-	NC_000022.11:g.17548325C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1033Gly	rs781220737	missense variant	-	NC_000022.11:g.17548325C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asn1035Ser	rs755729821	missense variant	-	NC_000022.11:g.17548331A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1038Thr	rs993502269	missense variant	-	NC_000022.11:g.17548339G>A	TOPMed
CECR2	Q9BXF3	p.Met1039Ile	rs1047746260	missense variant	-	NC_000022.11:g.17548344G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys1042Glu	rs1203712862	missense variant	-	NC_000022.11:g.17548351A>G	gnomAD
CECR2	Q9BXF3	p.Lys1042Arg	rs201295786	missense variant	-	NC_000022.11:g.17548352A>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1044Ser	rs554402218	missense variant	-	NC_000022.11:g.17548357C>T	1000Genomes,TOPMed
CECR2	Q9BXF3	p.Pro1046Leu	COSM3551999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548364C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser1047Leu	rs574553165	missense variant	-	NC_000022.11:g.17548367C>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp1048Asn	rs1352219709	missense variant	-	NC_000022.11:g.17548369G>A	TOPMed
CECR2	Q9BXF3	p.Ser1049Asn	rs1433548543	missense variant	-	NC_000022.11:g.17548373G>A	TOPMed
CECR2	Q9BXF3	p.Ser1050Gly	rs773757364	missense variant	-	NC_000022.11:g.17548375A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1053Ser	rs368828545	missense variant	-	NC_000022.11:g.17548384G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1054Leu	rs1286205890	missense variant	-	NC_000022.11:g.17548388C>T	gnomAD
CECR2	Q9BXF3	p.Pro1054Ser	rs765498466	missense variant	-	NC_000022.11:g.17548387C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1056Gly	rs201042679	missense variant	-	NC_000022.11:g.17548394C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1056Thr	rs370892204	missense variant	-	NC_000022.11:g.17548393G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1056Ser	rs370892204	missense variant	-	NC_000022.11:g.17548393G>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln1057Arg	rs1271768236	missense variant	-	NC_000022.11:g.17548397A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1058Arg	rs1362431999	missense variant	-	NC_000022.11:g.17548399G>A	gnomAD
CECR2	Q9BXF3	p.Gly1058Glu	rs368251446	missense variant	-	NC_000022.11:g.17548400G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Cys1059Tyr	rs779767457	missense variant	-	NC_000022.11:g.17548403G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Val1060Met	rs371695265	missense variant	-	NC_000022.11:g.17548405G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr1065Met	rs778651502	missense variant	-	NC_000022.11:g.17548421C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1067Thr	rs1193253270	missense variant	-	NC_000022.11:g.17548426G>A	gnomAD
CECR2	Q9BXF3	p.Gly1070Val	rs1475309438	missense variant	-	NC_000022.11:g.17548436G>T	gnomAD
CECR2	Q9BXF3	p.Ala1071Ser	rs1291357851	missense variant	-	NC_000022.11:g.17548438G>T	TOPMed
CECR2	Q9BXF3	p.Leu1072Val	rs371779588	missense variant	-	NC_000022.11:g.17548441C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu1074Asp	rs1344217120	missense variant	-	NC_000022.11:g.17548449G>T	TOPMed
CECR2	Q9BXF3	p.Glu1074Lys	rs200483181	missense variant	-	NC_000022.11:g.17548447G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu1074GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17548448_17548461AGAACGGAGTCATT>-	NCI-TCGA
CECR2	Q9BXF3	p.Asn1075His	rs776623814	missense variant	-	NC_000022.11:g.17548450A>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asn1075Asp	rs776623814	missense variant	-	NC_000022.11:g.17548450A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1076Arg	rs1319269560	missense variant	-	NC_000022.11:g.17548453G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Val1077Asp	rs1474935914	missense variant	-	NC_000022.11:g.17548457T>A	TOPMed
CECR2	Q9BXF3	p.Ile1078Thr	rs201137830	missense variant	-	NC_000022.11:g.17548460T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ile1078Met	rs1429782810	missense variant	-	NC_000022.11:g.17548461T>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1079Arg	rs1485041858	missense variant	-	NC_000022.11:g.17548462G>C	TOPMed
CECR2	Q9BXF3	p.Gly1079Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548462G>A	NCI-TCGA
CECR2	Q9BXF3	p.Glu1080Lys	rs920660480	missense variant	-	NC_000022.11:g.17548465G>A	gnomAD
CECR2	Q9BXF3	p.Glu1080Ala	rs1357359366	missense variant	-	NC_000022.11:g.17548466A>C	gnomAD
CECR2	Q9BXF3	p.Pro1083Ala	rs761482382	missense variant	-	NC_000022.11:g.17548474C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1083Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548474C>T	NCI-TCGA
CECR2	Q9BXF3	p.Gly1085Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548481G>T	NCI-TCGA
CECR2	Q9BXF3	p.Ser1086Leu	rs750370962	missense variant	-	NC_000022.11:g.17548484C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu1087Lys	rs562067573	missense variant	-	NC_000022.11:g.17548486G>A	1000Genomes,gnomAD
CECR2	Q9BXF3	p.Gly1088Glu	COSM3552001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548490G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Lys1089AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17548493_17548494insT	NCI-TCGA
CECR2	Q9BXF3	p.Leu1091Arg	rs756055357	missense variant	-	NC_000022.11:g.17548499T>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1092Arg	rs766452519	missense variant	-	NC_000022.11:g.17548501G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1092Ser	rs766452519	missense variant	-	NC_000022.11:g.17548501G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1093Gly	rs1486313824	missense variant	-	NC_000022.11:g.17548504A>G	gnomAD
CECR2	Q9BXF3	p.Ser1093Ile	rs369500490	missense variant	-	NC_000022.11:g.17548505G>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1093Thr	rs369500490	missense variant	-	NC_000022.11:g.17548505G>C	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1094Gly	rs1255979923	missense variant	-	NC_000022.11:g.17548507A>G	gnomAD
CECR2	Q9BXF3	p.Gly1095Asp	rs1278514042	missense variant	-	NC_000022.11:g.17548511G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu1097Lys	rs752465426	missense variant	-	NC_000022.11:g.17548516G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu1099Pro	rs758680683	missense variant	-	NC_000022.11:g.17548523T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Leu1100Phe	rs1156653093	missense variant	-	NC_000022.11:g.17548525C>T	gnomAD
CECR2	Q9BXF3	p.Arg1103Gly	rs1312232447	missense variant	-	NC_000022.11:g.17548534A>G	gnomAD
CECR2	Q9BXF3	p.Arg1103Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548535G>C	NCI-TCGA
CECR2	Q9BXF3	p.Gly1104Asp	rs1443818787	missense variant	-	NC_000022.11:g.17548538G>A	gnomAD
CECR2	Q9BXF3	p.Gly1104Ser	rs1353412481	missense variant	-	NC_000022.11:g.17548537G>A	gnomAD
CECR2	Q9BXF3	p.Thr1106Ser	rs1461413213	missense variant	-	NC_000022.11:g.17548543A>T	TOPMed
CECR2	Q9BXF3	p.Thr1106Arg	rs756767133	missense variant	-	NC_000022.11:g.17548544C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr1106Met	rs756767133	missense variant	-	NC_000022.11:g.17548544C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln1108Arg	rs1010125185	missense variant	-	NC_000022.11:g.17548550A>G	TOPMed
CECR2	Q9BXF3	p.Glu1109Lys	rs1467443513	missense variant	-	NC_000022.11:g.17548552G>A	gnomAD
CECR2	Q9BXF3	p.Pro1112Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548561C>T	NCI-TCGA
CECR2	Q9BXF3	p.Thr1114Met	rs186816630	missense variant	-	NC_000022.11:g.17548568C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1115Glu	rs373078553	missense variant	-	NC_000022.11:g.17548571G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1115Arg	rs1210535333	missense variant	-	NC_000022.11:g.17548570G>A	gnomAD
CECR2	Q9BXF3	p.Ala1118Thr	rs769011525	missense variant	-	NC_000022.11:g.17548579G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala1118Ser	rs769011525	missense variant	-	NC_000022.11:g.17548579G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala1119Thr	rs773103346	missense variant	-	NC_000022.11:g.17548582G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala1119Val	rs1468839453	missense variant	-	NC_000022.11:g.17548583C>T	gnomAD
CECR2	Q9BXF3	p.Ala1119Gly	rs1468839453	missense variant	-	NC_000022.11:g.17548583C>G	gnomAD
CECR2	Q9BXF3	p.Thr1120Ile	rs766397464	missense variant	-	NC_000022.11:g.17548586C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1121Ser	rs753854261	missense variant	-	NC_000022.11:g.17548588C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1121Leu	rs758968482	missense variant	-	NC_000022.11:g.17548589C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr1124Ala	rs764864172	missense variant	-	NC_000022.11:g.17548597A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Asp1125Glu	rs745565837	missense variant	-	NC_000022.11:g.17548602C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp1125Gly	rs1329005384	missense variant	-	NC_000022.11:g.17548601A>G	gnomAD
CECR2	Q9BXF3	p.Asp1125Glu	rs745565837	missense variant	-	NC_000022.11:g.17548602C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp1125Tyr	rs1230113168	missense variant	-	NC_000022.11:g.17548600G>T	TOPMed
CECR2	Q9BXF3	p.Pro1126Ser	rs757980872	missense variant	-	NC_000022.11:g.17548603C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1127Ser	rs1371209311	missense variant	-	NC_000022.11:g.17548606G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr1129Met	rs777432282	missense variant	-	NC_000022.11:g.17548613C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr1129Ser	rs1234088205	missense variant	-	NC_000022.11:g.17548612A>T	gnomAD
CECR2	Q9BXF3	p.Gly1131Asp	rs757663874	missense variant	-	NC_000022.11:g.17548619G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1131Ser	rs1196861126	missense variant	-	NC_000022.11:g.17548618G>A	gnomAD
CECR2	Q9BXF3	p.Thr1132Ser	rs1392159581	missense variant	-	NC_000022.11:g.17548622C>G	TOPMed
CECR2	Q9BXF3	p.Phe1136Val	rs376045788	missense variant	-	NC_000022.11:g.17548633T>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1137Ser	rs1215564397	missense variant	-	NC_000022.11:g.17548636C>T	gnomAD
CECR2	Q9BXF3	p.Pro1138Leu	rs200495617	missense variant	-	NC_000022.11:g.17548640C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1138Ala	rs1034092390	missense variant	-	NC_000022.11:g.17548639C>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1138Arg	rs200495617	missense variant	-	NC_000022.11:g.17548640C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu1139Val	rs1375701699	missense variant	-	NC_000022.11:g.17548642C>G	gnomAD
CECR2	Q9BXF3	p.Tyr1140Cys	rs1168458563	missense variant	-	NC_000022.11:g.17548646A>G	gnomAD
CECR2	Q9BXF3	p.Tyr1140His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548645T>C	NCI-TCGA
CECR2	Q9BXF3	p.Met1141Ile	rs768952503	missense variant	-	NC_000022.11:g.17548650G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Met1141Val	rs183197311	missense variant	-	NC_000022.11:g.17548648A>G	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1143Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548655G>C	NCI-TCGA
CECR2	Q9BXF3	p.Glu1145Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.17548660G>T	NCI-TCGA
CECR2	Q9BXF3	p.Pro1147Arg	rs760515905	missense variant	-	NC_000022.11:g.17548667C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1147Leu	rs760515905	missense variant	-	NC_000022.11:g.17548667C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1150Gly	rs374477111	missense variant	-	NC_000022.11:g.17548676C>G	ESP,ExAC,gnomAD
CECR2	Q9BXF3	p.His1152Tyr	rs759463259	missense variant	-	NC_000022.11:g.17548681C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.His1154Tyr	rs765095064	missense variant	-	NC_000022.11:g.17548687C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.His1154Leu	rs752214014	missense variant	-	NC_000022.11:g.17548688A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ile1155Val	rs762469533	missense variant	-	NC_000022.11:g.17548690A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1157Leu	COSM3552005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548697C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro1157Ala	rs763711455	missense variant	-	NC_000022.11:g.17548696C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1158Asp	rs533399275	missense variant	-	NC_000022.11:g.17548700G>A	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1158Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548699G>T	NCI-TCGA
CECR2	Q9BXF3	p.Gly1161Val	rs767982645	missense variant	-	NC_000022.11:g.17548709G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1161Asp	rs767982645	missense variant	-	NC_000022.11:g.17548709G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val1162Leu	rs920711557	missense variant	-	NC_000022.11:g.17548711G>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Val1162Glu	rs929498170	missense variant	-	NC_000022.11:g.17548712T>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1163Ser	rs1166513454	missense variant	-	NC_000022.11:g.17548714G>A	gnomAD
CECR2	Q9BXF3	p.Gly1163Ala	rs531837211	missense variant	-	NC_000022.11:g.17548715G>C	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1164Ser	rs909485083	missense variant	-	NC_000022.11:g.17548717C>T	TOPMed
CECR2	Q9BXF3	p.Met1166Thr	rs1460420258	missense variant	-	NC_000022.11:g.17548724T>C	gnomAD
CECR2	Q9BXF3	p.Gly1167Ala	rs780449415	missense variant	-	NC_000022.11:g.17548727G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1168Arg	rs1373203762	missense variant	-	NC_000022.11:g.17548729G>A	TOPMed
CECR2	Q9BXF3	p.Ser1170Cys	rs568504117	missense variant	-	NC_000022.11:g.17548736C>G	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.His1174Arg	rs779273533	missense variant	-	NC_000022.11:g.17548748A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1175Arg	rs748443337	missense variant	-	NC_000022.11:g.17548751C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.His1177Gln	rs1308776217	missense variant	-	NC_000022.11:g.17548758T>G	TOPMed
CECR2	Q9BXF3	p.Phe1178Val	rs1235658052	missense variant	-	NC_000022.11:g.17548759T>G	gnomAD
CECR2	Q9BXF3	p.Pro1179Ser	rs1431703160	missense variant	-	NC_000022.11:g.17548762C>T	TOPMed
CECR2	Q9BXF3	p.Arg1181Gly	rs554572738	missense variant	-	NC_000022.11:g.17548768A>G	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Arg1181Ser	rs776423644	missense variant	-	NC_000022.11:g.17548770G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1182Ser	rs1039039190	missense variant	-	NC_000022.11:g.17548771G>A	TOPMed
CECR2	Q9BXF3	p.Asn1186Lys	rs1041053657	missense variant	-	NC_000022.11:g.17548785C>A	gnomAD
CECR2	Q9BXF3	p.His1189Leu	rs1351661471	missense variant	-	NC_000022.11:g.17548793A>T	gnomAD
CECR2	Q9BXF3	p.Gly1192Asp	rs745683899	missense variant	-	NC_000022.11:g.17548802G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Phe1193Cys	COSM1031856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548805T>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro1194Ser	rs1487293869	missense variant	-	NC_000022.11:g.17548807C>T	gnomAD
CECR2	Q9BXF3	p.Pro1194Leu	rs1190004358	missense variant	-	NC_000022.11:g.17548808C>T	gnomAD
CECR2	Q9BXF3	p.Pro1194Ala	rs1487293869	missense variant	-	NC_000022.11:g.17548807C>G	gnomAD
CECR2	Q9BXF3	p.Arg1195Pro	rs777144786	missense variant	-	NC_000022.11:g.17548811G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1195Trp	rs568030540	missense variant	-	NC_000022.11:g.17548810C>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1195Gln	rs777144786	missense variant	-	NC_000022.11:g.17548811G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1197Cys	COSM1484056	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548816C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg1197His	rs200418423	missense variant	-	NC_000022.11:g.17548817G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1198Ser	rs369170510	missense variant	-	NC_000022.11:g.17548819C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1199Arg	rs368003991	missense variant	-	NC_000022.11:g.17548823C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1199Gln	rs368003991	missense variant	-	NC_000022.11:g.17548823C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1199Ser	rs1234552773	missense variant	-	NC_000022.11:g.17548822C>T	gnomAD
CECR2	Q9BXF3	p.Gly1201Arg	rs766880283	missense variant	-	NC_000022.11:g.17548828G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg1203Ser	rs200474238	missense variant	-	NC_000022.11:g.17548836G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Tyr1204Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.17548839T>G	NCI-TCGA
CECR2	Q9BXF3	p.Ser1205Phe	rs779081450	missense variant	-	NC_000022.11:g.17548841C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser1205Cys	rs779081450	missense variant	-	NC_000022.11:g.17548841C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Tyr1206Ser	rs758608780	missense variant	-	NC_000022.11:g.17548844A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.His1207Pro	rs745649897	missense variant	-	NC_000022.11:g.17548847A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.His1207Asp	rs546113280	missense variant	-	NC_000022.11:g.17548846C>G	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.His1207Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548847A>G	NCI-TCGA
CECR2	Q9BXF3	p.Pro1208Ser	rs556528619	missense variant	-	NC_000022.11:g.17548849C>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1208Thr	rs556528619	missense variant	-	NC_000022.11:g.17548849C>A	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1209Leu	rs374388183	missense variant	-	NC_000022.11:g.17548853C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1210Ser	rs761342382	missense variant	-	NC_000022.11:g.17548855C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1210Leu	rs767178491	missense variant	-	NC_000022.11:g.17548856C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Tyr1214Asn	rs959811287	missense variant	-	NC_000022.11:g.17548867T>A	TOPMed
CECR2	Q9BXF3	p.His1216Arg	rs551944084	missense variant	-	NC_000022.11:g.17548874A>G	gnomAD
CECR2	Q9BXF3	p.Tyr1217His	rs377210122	missense variant	-	NC_000022.11:g.17548876T>C	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln1218Glu	rs766712311	missense variant	-	NC_000022.11:g.17548879C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln1218Arg	rs754271465	missense variant	-	NC_000022.11:g.17548880A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln1218Leu	rs754271465	missense variant	-	NC_000022.11:g.17548880A>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1219Gln	rs1375445153	missense variant	-	NC_000022.11:g.17548883G>A	gnomAD
CECR2	Q9BXF3	p.Thr1220Ala	COSM4102437	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548885A>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Tyr1222Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17548892A>G	NCI-TCGA
CECR2	Q9BXF3	p.Tyr1223Cys	rs760057860	missense variant	-	NC_000022.11:g.17548895A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr1223Phe	rs760057860	missense variant	-	NC_000022.11:g.17548895A>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1224Ser	rs765878345	missense variant	-	NC_000022.11:g.17548897G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala1224Pro	rs765878345	missense variant	-	NC_000022.11:g.17548897G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala1224Thr	rs765878345	missense variant	-	NC_000022.11:g.17548897G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Cys1225Ser	rs369716151	missense variant	-	NC_000022.11:g.17548901G>C	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Cys1225Arg	rs758454312	missense variant	-	NC_000022.11:g.17548900T>C	ExAC
CECR2	Q9BXF3	p.Cys1225Tyr	rs369716151	missense variant	-	NC_000022.11:g.17548901G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1226Thr	rs751791902	missense variant	-	NC_000022.11:g.17548903C>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser1228Asn	rs755921203	missense variant	-	NC_000022.11:g.17548910G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Phe1229Ser	rs768539733	missense variant	-	NC_000022.11:g.17548913T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Phe1229Val	rs574102509	missense variant	-	NC_000022.11:g.17548912T>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Phe1229Leu	rs574102509	missense variant	-	NC_000022.11:g.17548912T>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1230Ala	rs1480677010	missense variant	-	NC_000022.11:g.17548915T>G	gnomAD
CECR2	Q9BXF3	p.Asp1231Glu	rs539811804	missense variant	-	NC_000022.11:g.17548920C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp1231Val	rs201661747	missense variant	-	NC_000022.11:g.17548919A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Trp1232Cys	rs562131493	missense variant	-	NC_000022.11:g.17548923G>T	1000Genomes
CECR2	Q9BXF3	p.Gln1233Arg	rs1455305012	missense variant	-	NC_000022.11:g.17548925A>G	gnomAD
CECR2	Q9BXF3	p.Arg1234Ile	rs771549943	missense variant	-	NC_000022.11:g.17548928G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1235Ala	rs772905660	missense variant	-	NC_000022.11:g.17548930C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1235Ser	rs772905660	missense variant	-	NC_000022.11:g.17548930C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1235Arg	rs375414804	missense variant	-	NC_000022.11:g.17548931C>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1238Leu	rs770624477	missense variant	-	NC_000022.11:g.17548940C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser1241Cys	rs1355553336	missense variant	-	NC_000022.11:g.17548948A>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1241Gly	rs1355553336	missense variant	-	NC_000022.11:g.17548948A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1241Asn	rs527746223	missense variant	-	NC_000022.11:g.17548949G>A	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1243Arg	rs760004505	missense variant	-	NC_000022.11:g.17548956C>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1243Arg	rs760004505	missense variant	-	NC_000022.11:g.17548956C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1244Arg	rs763080661	missense variant	-	NC_000022.11:g.17548957G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1246Gln	COSM3552009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548964C>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro1246Ser	rs1366684764	missense variant	-	NC_000022.11:g.17548963C>T	gnomAD
CECR2	Q9BXF3	p.Pro1246Leu	rs185630123	missense variant	-	NC_000022.11:g.17548964C>T	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Ala1247Ser	rs560216294	missense variant	-	NC_000022.11:g.17548966G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1251Leu	COSM3552011	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17548979C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro1251Arg	rs1322502713	missense variant	-	NC_000022.11:g.17548979C>G	TOPMed
CECR2	Q9BXF3	p.Pro1252Arg	rs199780601	missense variant	-	NC_000022.11:g.17548982C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1252Leu	rs199780601	missense variant	-	NC_000022.11:g.17548982C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1252Gln	rs199780601	missense variant	-	NC_000022.11:g.17548982C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1252Thr	rs748094620	missense variant	-	NC_000022.11:g.17548981C>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg1254Ser	rs200293030	missense variant	-	NC_000022.11:g.17548989G>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1254Gly	rs770661461	missense variant	-	NC_000022.11:g.17548987A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser1255Phe	rs1188591297	missense variant	-	NC_000022.11:g.17548991C>T	gnomAD
CECR2	Q9BXF3	p.Ser1255Cys	rs1188591297	missense variant	-	NC_000022.11:g.17548991C>G	gnomAD
CECR2	Q9BXF3	p.Leu1256His	rs770346784	missense variant	-	NC_000022.11:g.17548994T>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser1258Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17549000C>T	NCI-TCGA
CECR2	Q9BXF3	p.Lys1260Glu	rs1461993237	missense variant	-	NC_000022.11:g.17549005A>G	gnomAD
CECR2	Q9BXF3	p.Asn1261Lys	rs764665700	missense variant	-	NC_000022.11:g.17549010T>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met1263Val	rs1434101865	missense variant	-	NC_000022.11:g.17549014A>G	gnomAD
CECR2	Q9BXF3	p.Met1263Ile	rs1290405057	missense variant	-	NC_000022.11:g.17549016G>A	gnomAD
CECR2	Q9BXF3	p.Ala1264Thr	rs201121617	missense variant	-	NC_000022.11:g.17549017G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1265Thr	rs1289782664	missense variant	-	NC_000022.11:g.17549021G>C	TOPMed
CECR2	Q9BXF3	p.Ser1265Gly	rs754756745	missense variant	-	NC_000022.11:g.17549020A>G	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln1267Pro	rs764954759	missense variant	-	NC_000022.11:g.17549027A>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asn1273Tyr	rs1348919231	missense variant	-	NC_000022.11:g.17549044A>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1275Ser	rs758232907	missense variant	-	NC_000022.11:g.17549050G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr1277Asn	rs1488278425	missense variant	-	NC_000022.11:g.17549057C>A	gnomAD
CECR2	Q9BXF3	p.Thr1277Ile	rs1488278425	missense variant	-	NC_000022.11:g.17549057C>T	gnomAD
CECR2	Q9BXF3	p.Ser1278Tyr	COSM3842145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549060C>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser1278Phe	rs1192165901	missense variant	-	NC_000022.11:g.17549060C>T	gnomAD
CECR2	Q9BXF3	p.Ser1278Phe	rs1192165901	missense variant	-	NC_000022.11:g.17549060C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro1279Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17549062C>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg1281His	rs373544152	missense variant	-	NC_000022.11:g.17549069G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1281Cys	rs199712744	missense variant	-	NC_000022.11:g.17549068C>T	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp1283Glu	rs1255571248	missense variant	-	NC_000022.11:g.17549076T>G	gnomAD
CECR2	Q9BXF3	p.Ala1286Ser	rs780984393	missense variant	-	NC_000022.11:g.17549083G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ala1287Gly	rs745572342	missense variant	-	NC_000022.11:g.17549087C>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Lys1288Glu	rs556155269	missense variant	-	NC_000022.11:g.17549089A>G	gnomAD
CECR2	Q9BXF3	p.Val1289Ile	rs1345585364	missense variant	-	NC_000022.11:g.17549092G>A	gnomAD
CECR2	Q9BXF3	p.Asp1292Asn	rs769580221	missense variant	-	NC_000022.11:g.17549101G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1293Arg	rs141354988	missense variant	-	NC_000022.11:g.17549104G>A	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1297Asp	rs768994928	missense variant	-	NC_000022.11:g.17549117G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1298Ser	rs376422746	missense variant	-	NC_000022.11:g.17549119C>T	ESP,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu1299Lys	rs774969091	missense variant	-	NC_000022.11:g.17549122G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Lys1302Asn	rs761849356	missense variant	-	NC_000022.11:g.17549133G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Leu1303Pro	rs370954909	missense variant	-	NC_000022.11:g.17549135T>C	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu1305Lys	rs1214829576	missense variant	-	NC_000022.11:g.17549140G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Met1307Val	rs773292966	missense variant	-	NC_000022.11:g.17549146A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1310Leu	rs1486281208	missense variant	-	NC_000022.11:g.17549156C>T	gnomAD
CECR2	Q9BXF3	p.Glu1311Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17549158G>C	NCI-TCGA
CECR2	Q9BXF3	p.Glu1315Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17549170G>C	NCI-TCGA
CECR2	Q9BXF3	p.Leu1317Ter	NCI-TCGA novel	frameshift	-	NC_000022.11:g.17549173T>-	NCI-TCGA
CECR2	Q9BXF3	p.Asn1321Ser	rs1235781204	missense variant	-	NC_000022.11:g.17549189A>G	gnomAD
CECR2	Q9BXF3	p.His1322Asn	COSM1484058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549191C>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Asn1323Asp	COSM4838755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549194A>G	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ala1324Thr	rs897079322	missense variant	-	NC_000022.11:g.17549197G>A	TOPMed
CECR2	Q9BXF3	p.Ala1324Thr	rs897079322	missense variant	-	NC_000022.11:g.17549197G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ala1325Val	rs752389394	missense variant	-	NC_000022.11:g.17549201C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Lys1327Arg	rs763909421	missense variant	-	NC_000022.11:g.17549207A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg1328Gln	rs756812363	missense variant	-	NC_000022.11:g.17549210G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg1328Trp	rs751578696	missense variant	-	NC_000022.11:g.17549209C>T	NCI-TCGA
CECR2	Q9BXF3	p.Arg1328Trp	rs751578696	missense variant	-	NC_000022.11:g.17549209C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1330Asn	rs1204494649	missense variant	-	NC_000022.11:g.17549216G>A	TOPMed
CECR2	Q9BXF3	p.Ser1331Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17549219C>T	NCI-TCGA
CECR2	Q9BXF3	p.Leu1332Trp	rs1231826643	missense variant	-	NC_000022.11:g.17549222T>G	TOPMed
CECR2	Q9BXF3	p.Ser1333Pro	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17549224T>C	NCI-TCGA
CECR2	Q9BXF3	p.Ser1335Arg	rs1279784247	missense variant	-	NC_000022.11:g.17549232C>G	gnomAD
CECR2	Q9BXF3	p.Glu1336Gly	rs1238510110	missense variant	-	NC_000022.11:g.17549234A>G	gnomAD
CECR2	Q9BXF3	p.Glu1336Lys	rs1375676607	missense variant	-	NC_000022.11:g.17549233G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu1338Pro	rs61735058	missense variant	-	NC_000022.11:g.17549240T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr1339Phe	rs749594416	missense variant	-	NC_000022.11:g.17549243A>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Tyr1339Cys	rs749594416	missense variant	-	NC_000022.11:g.17549243A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr1341Ala	rs769104481	missense variant	-	NC_000022.11:g.17549248A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr1341Ile	rs922228355	missense variant	-	NC_000022.11:g.17549249C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr1341Pro	rs769104481	missense variant	-	NC_000022.11:g.17549248A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1343Leu	rs887806595	missense variant	-	NC_000022.11:g.17549255C>T	gnomAD
CECR2	Q9BXF3	p.Pro1343Gln	rs887806595	missense variant	-	NC_000022.11:g.17549255C>A	gnomAD
CECR2	Q9BXF3	p.Pro1344Ser	rs1176589220	missense variant	-	NC_000022.11:g.17549257C>T	gnomAD
CECR2	Q9BXF3	p.Ser1346Asn	rs1478206149	missense variant	-	NC_000022.11:g.17549264G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1347Leu	rs1171958252	missense variant	-	NC_000022.11:g.17549267C>T	gnomAD
CECR2	Q9BXF3	p.Gly1348Glu	rs748597487	missense variant	-	NC_000022.11:g.17549270G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1348Arg	rs1422904426	missense variant	-	NC_000022.11:g.17549269G>A	gnomAD
CECR2	Q9BXF3	p.Gly1350Arg	rs772574374	missense variant	-	NC_000022.11:g.17549275G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser1353Ter	COSM1647498	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.17549285C>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser1353Leu	rs1444092068	missense variant	-	NC_000022.11:g.17549285C>T	gnomAD
CECR2	Q9BXF3	p.Ser1353Pro	rs1399142285	missense variant	-	NC_000022.11:g.17549284T>C	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1353Leu	rs1444092068	missense variant	-	NC_000022.11:g.17549285C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro1358Ser	rs1273599103	missense variant	-	NC_000022.11:g.17549299C>T	gnomAD
CECR2	Q9BXF3	p.Ser1360Gly	rs987519738	missense variant	-	NC_000022.11:g.17549305A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1360Cys	rs987519738	missense variant	-	NC_000022.11:g.17549305A>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1360Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17549306G>A	NCI-TCGA
CECR2	Q9BXF3	p.Val1361Met	rs1372165990	missense variant	-	NC_000022.11:g.17549308G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Met1362Ile	rs370812487	missense variant	-	NC_000022.11:g.17549313G>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu1363Pro	rs776956929	missense variant	-	NC_000022.11:g.17549315T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln1364His	rs762655275	missense variant	-	NC_000022.11:g.17549319G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr1365Met	rs764004218	missense variant	-	NC_000022.11:g.17549321C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr1365Met	rs764004218	missense variant	-	NC_000022.11:g.17549321C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Gly1366Glu	rs1451980499	missense variant	-	NC_000022.11:g.17549324G>A	gnomAD
CECR2	Q9BXF3	p.Pro1368Ser	COSM3912357	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549329C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Tyr1369Phe	rs373901873	missense variant	-	NC_000022.11:g.17549333A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr1369Ser	rs373901873	missense variant	-	NC_000022.11:g.17549333A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr1369Cys	rs373901873	missense variant	-	NC_000022.11:g.17549333A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1371Leu	rs1463566616	missense variant	-	NC_000022.11:g.17549339C>T	gnomAD
CECR2	Q9BXF3	p.Pro1371Ser	rs753592652	missense variant	-	NC_000022.11:g.17549338C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg1373Gln	rs966965861	missense variant	-	NC_000022.11:g.17549345G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg1373Trp	rs367797204	missense variant	-	NC_000022.11:g.17549344C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1373Gln	rs966965861	missense variant	-	NC_000022.11:g.17549345G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1374Ser	rs779270148	missense variant	-	NC_000022.11:g.17549347C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1374Leu	rs748544634	missense variant	-	NC_000022.11:g.17549348C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1376Gly	rs747064235	missense variant	-	NC_000022.11:g.17549353A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Arg1381Gly	rs1316177455	missense variant	-	NC_000022.11:g.17549368A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr1383Phe	COSM5075811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549375A>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Tyr1383Cys	rs776700328	missense variant	-	NC_000022.11:g.17549375A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser1385Phe	COSM3552015	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549381C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ser1385Thr	rs371599329	missense variant	-	NC_000022.11:g.17549380T>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ser1385Cys	rs576373100	missense variant	-	NC_000022.11:g.17549381C>G	1000Genomes,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val1387Met	rs1448463762	missense variant	-	NC_000022.11:g.17549386G>A	gnomAD
CECR2	Q9BXF3	p.Ala1388Asp	rs1310725114	missense variant	-	NC_000022.11:g.17549390C>A	TOPMed
CECR2	Q9BXF3	p.Ala1388Thr	rs895744714	missense variant	-	NC_000022.11:g.17549389G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1389Ser	COSM6161426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549392G>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Ala1389Thr	rs1446883743	missense variant	-	NC_000022.11:g.17549392G>A	TOPMed
CECR2	Q9BXF3	p.Ala1389Gly	rs1476560676	missense variant	-	NC_000022.11:g.17549393C>G	gnomAD
CECR2	Q9BXF3	p.Ala1389Thr	rs1446883743	missense variant	-	NC_000022.11:g.17549392G>A	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Leu1390Phe	rs376337845	missense variant	-	NC_000022.11:g.17549395C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Leu1390Phe	rs376337845	missense variant	-	NC_000022.11:g.17549395C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro1391Ser	rs1457070970	missense variant	-	NC_000022.11:g.17549398C>T	gnomAD
CECR2	Q9BXF3	p.His1394Gln	rs886856170	missense variant	-	NC_000022.11:g.17549409C>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.His1394Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.17549408A>T	NCI-TCGA
CECR2	Q9BXF3	p.Ala1397Val	rs1005291382	missense variant	-	NC_000022.11:g.17549417C>T	TOPMed
CECR2	Q9BXF3	p.Ala1397Pro	rs760099100	missense variant	-	NC_000022.11:g.17549416G>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ala1397Thr	rs760099100	missense variant	-	NC_000022.11:g.17549416G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1400Thr	rs765858692	missense variant	-	NC_000022.11:g.17549425C>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Asn1401Asp	rs199653481	missense variant	-	NC_000022.11:g.17549428A>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1402Asp	rs753040424	missense variant	-	NC_000022.11:g.17549432G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1402Ser	rs778560536	missense variant	-	NC_000022.11:g.17549431G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1402Ser	rs778560536	missense variant	-	NC_000022.11:g.17549431G>A	NCI-TCGA
CECR2	Q9BXF3	p.Leu1403Phe	rs1036842182	missense variant	-	NC_000022.11:g.17549434C>T	TOPMed
CECR2	Q9BXF3	p.Gln1405Arg	rs1445005578	missense variant	-	NC_000022.11:g.17549441A>G	TOPMed
CECR2	Q9BXF3	p.Gly1407Ser	rs201289040	missense variant	-	NC_000022.11:g.17549446G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1408Ser	rs778252121	missense variant	-	NC_000022.11:g.17549449C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Ile1409Val	rs1331092102	missense variant	-	NC_000022.11:g.17549452A>G	TOPMed
CECR2	Q9BXF3	p.Tyr1410Phe	rs1216993166	missense variant	-	NC_000022.11:g.17549456A>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr1410Cys	rs1216993166	missense variant	-	NC_000022.11:g.17549456A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1411Cys	rs747575846	missense variant	-	NC_000022.11:g.17549458C>T	NCI-TCGA,NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Arg1411His	rs555429495	missense variant	-	NC_000022.11:g.17549459G>A	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Arg1411Cys	rs747575846	missense variant	-	NC_000022.11:g.17549458C>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu1415Gly	rs74478545	missense variant	-	NC_000022.11:g.17549471A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gly1416Val	rs1422680675	missense variant	-	NC_000022.11:g.17549474G>T	gnomAD
CECR2	Q9BXF3	p.Leu1417Arg	rs781261885	missense variant	-	NC_000022.11:g.17549477T>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Val1423Ala	rs745963082	missense variant	-	NC_000022.11:g.17549495T>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met1424Ile	rs1359228518	missense variant	-	NC_000022.11:g.17549499G>A	gnomAD
CECR2	Q9BXF3	p.Met1424Val	rs368285423	missense variant	-	NC_000022.11:g.17549497A>G	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met1425Ile	rs572451277	missense variant	-	NC_000022.11:g.17549502G>A	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Glu1426Lys	rs1303885505	missense variant	-	NC_000022.11:g.17549503G>A	gnomAD
CECR2	Q9BXF3	p.Glu1426Ter	rs1303885505	stop gained	-	NC_000022.11:g.17549503G>T	gnomAD
CECR2	Q9BXF3	p.Gln1427Arg	rs889696976	missense variant	-	NC_000022.11:g.17549507A>G	TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1431Ile	COSM3842147	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17549519G>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Gly1433Ala	rs764067017	missense variant	-	NC_000022.11:g.17549525G>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Gly1433Arg	rs1309434147	missense variant	-	NC_000022.11:g.17549524G>A	gnomAD
CECR2	Q9BXF3	p.Ile1434Val	rs138071985	missense variant	-	NC_000022.11:g.17549527A>G	1000Genomes,gnomAD
CECR2	Q9BXF3	p.Arg1435Lys	rs1308225234	missense variant	-	NC_000022.11:g.17549531G>A	gnomAD
CECR2	Q9BXF3	p.Arg1435Gly	rs1458274478	missense variant	-	NC_000022.11:g.17549530A>G	TOPMed
CECR2	Q9BXF3	p.Gly1436Glu	rs372202363	missense variant	-	NC_000022.11:g.17549534G>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1437Thr	rs766259622	missense variant	-	NC_000022.11:g.17549536C>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Phe1438Ser	rs776160800	missense variant	-	NC_000022.11:g.17549540T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu1440Ter	rs757103102	stop gained	-	NC_000022.11:g.17549545G>T	gnomAD
CECR2	Q9BXF3	p.Glu1440Lys	rs757103102	missense variant	-	NC_000022.11:g.17549545G>A	gnomAD
CECR2	Q9BXF3	p.Met1441Ile	rs1252311623	missense variant	-	NC_000022.11:g.17549550G>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Met1441Ile	rs1252311623	missense variant	-	NC_000022.11:g.17549550G>A	TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr1442His	rs759019713	missense variant	-	NC_000022.11:g.17549551T>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Tyr1442Ser	rs764840527	missense variant	-	NC_000022.11:g.17549552A>C	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1443Ter	rs752417080	stop gained	-	NC_000022.11:g.17549554A>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Arg1443Ile	rs758752683	missense variant	-	NC_000022.11:g.17549555G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1444Ala	rs1377499474	missense variant	-	NC_000022.11:g.17549557C>G	gnomAD
CECR2	Q9BXF3	p.Pro1444Leu	rs1466244307	missense variant	-	NC_000022.11:g.17549558C>T	TOPMed
CECR2	Q9BXF3	p.Ser1445Leu	rs142851999	missense variant	-	NC_000022.11:g.17549561C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Met1447Thr	rs780223716	missense variant	-	NC_000022.11:g.17552033T>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Gln1448Pro	rs1353024710	missense variant	-	NC_000022.11:g.17552036A>C	gnomAD
CECR2	Q9BXF3	p.His1450Tyr	rs1479951265	missense variant	-	NC_000022.11:g.17552041C>T	TOPMed
CECR2	Q9BXF3	p.Pro1451Leu	rs1320302167	missense variant	-	NC_000022.11:g.17552045C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1451Thr	rs1288657320	missense variant	-	NC_000022.11:g.17552044C>A	gnomAD
CECR2	Q9BXF3	p.Gln1453His	rs368452369	missense variant	-	NC_000022.11:g.17552052G>T	ExAC,gnomAD
CECR2	Q9BXF3	p.Ser1454Leu	rs938553668	missense variant	-	NC_000022.11:g.17552054C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Gln1455Glu	rs1223193269	missense variant	-	NC_000022.11:g.17552056C>G	TOPMed
CECR2	Q9BXF3	p.Ala1456Ser	rs1239306811	missense variant	-	NC_000022.11:g.17552059G>T	gnomAD
CECR2	Q9BXF3	p.Ser1457Leu	rs536749791	missense variant	-	NC_000022.11:g.17552063C>T	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Lys1460Glu	rs200761402	missense variant	-	NC_000022.11:g.17552071A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1462Ala	rs374889016	missense variant	-	NC_000022.11:g.17552077C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1462Leu	rs767828651	missense variant	-	NC_000022.11:g.17552078C>T	ExAC
CECR2	Q9BXF3	p.Pro1462Ser	rs374889016	missense variant	-	NC_000022.11:g.17552077C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr1463Ile	rs1038790936	missense variant	-	NC_000022.11:g.17552081C>T	gnomAD
CECR2	Q9BXF3	p.Thr1466Pro	rs750813328	missense variant	-	NC_000022.11:g.17552089A>C	ExAC,gnomAD
CECR2	Q9BXF3	p.Thr1466Ala	rs750813328	missense variant	-	NC_000022.11:g.17552089A>G	ExAC,gnomAD
CECR2	Q9BXF3	p.Glu1469Asp	rs1283250524	missense variant	-	NC_000022.11:g.17552100G>C	gnomAD
CECR2	Q9BXF3	p.Glu1469Lys	rs753946031	missense variant	-	NC_000022.11:g.17552098G>A	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Glu1470Asp	rs755151173	missense variant	-	NC_000022.11:g.17552103G>T	ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Val1471Met	rs779194271	missense variant	-	NC_000022.11:g.17552104G>A	ExAC,gnomAD
CECR2	Q9BXF3	p.Val1471Ala	rs1216064222	missense variant	-	NC_000022.11:g.17552105T>C	gnomAD
CECR2	Q9BXF3	p.Pro1472Leu	rs181553013	missense variant	-	NC_000022.11:g.17552108C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1473Leu	rs745689692	missense variant	-	NC_000022.11:g.17552111C>T	ExAC,gnomAD
CECR2	Q9BXF3	p.His1474Tyr	rs1341077800	missense variant	-	NC_000022.11:g.17552113C>T	TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1476Ser	rs559217085	missense variant	-	NC_000022.11:g.17552119C>T	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1476Ala	rs559217085	missense variant	-	NC_000022.11:g.17552119C>G	1000Genomes,ExAC,gnomAD
CECR2	Q9BXF3	p.Pro1477Ser	rs200210475	missense variant	-	NC_000022.11:g.17552122C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Thr1478Ile	rs1199876485	missense variant	-	NC_000022.11:g.17552126C>T	TOPMed
CECR2	Q9BXF3	p.Thr1478Ala	rs774038355	missense variant	-	NC_000022.11:g.17552125A>G	ExAC
CECR2	Q9BXF3	p.Leu1479Phe	rs1180325318	missense variant	-	NC_000022.11:g.17552128C>T	gnomAD
CECR2	Q9BXF3	p.Pro1480Ser	COSM5393121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17552131C>T	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Pro1480His	rs200479711	missense variant	-	NC_000022.11:g.17552132C>A	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Pro1480Leu	rs200479711	missense variant	-	NC_000022.11:g.17552132C>T	ESP,ExAC,TOPMed,gnomAD
CECR2	Q9BXF3	p.Asp1482His	COSM1307935	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.17552137G>C	NCI-TCGA Cosmic
CECR2	Q9BXF3	p.Asp1482Tyr	rs1156753166	missense variant	-	NC_000022.11:g.17552137G>T	gnomAD
CECR2	Q9BXF3	p.Ser1484Asn	rs1436415386	missense variant	-	NC_000022.11:g.17552836G>A	gnomAD
BCO2	Q9BYV7	p.Arg4Ter	rs780599024	stop gained	-	NC_000011.10:g.112175611C>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Arg4SerPheSerTerUnkUnk	COSM5124008	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.112175604_112175605insT	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.His8Tyr	rs1281213995	missense variant	-	NC_000011.10:g.112175623C>T	gnomAD
BCO2	Q9BYV7	p.Ser12Asn	rs755303166	missense variant	-	NC_000011.10:g.112175636G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.His13Arg	rs777303682	missense variant	-	NC_000011.10:g.112175639A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Ala15Thr	rs770594350	missense variant	-	NC_000011.10:g.112175644G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Thr16Ile	rs145373157	missense variant	-	NC_000011.10:g.112175648C>T	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Thr16Ser	rs1478049248	missense variant	-	NC_000011.10:g.112175647A>T	gnomAD
BCO2	Q9BYV7	p.Ala17Gly	COSM923096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112175651C>G	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Asp19Val	rs574249150	missense variant	-	NC_000011.10:g.112175657A>T	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Pro22Leu	rs775490373	missense variant	-	NC_000011.10:g.112175666C>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Pro22Ser	rs373466897	missense variant	-	NC_000011.10:g.112175665C>T	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Met24Ile	rs1422906737	missense variant	-	NC_000011.10:g.112175673G>C	gnomAD
BCO2	Q9BYV7	p.Met24Arg	rs760387441	missense variant	-	NC_000011.10:g.112175672T>G	ExAC,gnomAD
BCO2	Q9BYV7	p.His26Tyr	rs1198802881	missense variant	-	NC_000011.10:g.112175677C>T	TOPMed
BCO2	Q9BYV7	p.Arg27Trp	rs149163526	missense variant	-	NC_000011.10:g.112175680C>T	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Leu28Val	rs776873678	missense variant	-	NC_000011.10:g.112175683C>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val30Phe	rs765425934	missense variant	-	NC_000011.10:g.112175689G>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Phe31Cys	rs768450979	missense variant	-	NC_000011.10:g.112179281T>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Lys32Gln	rs776462866	missense variant	-	NC_000011.10:g.112179283A>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Met35Ile	rs770069481	missense variant	-	NC_000011.10:g.112179294G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Met35Thr	rs761583930	missense variant	-	NC_000011.10:g.112179293T>C	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn37Thr	rs1284084207	missense variant	-	NC_000011.10:g.112179299A>C	gnomAD
BCO2	Q9BYV7	p.Thr38Ser	rs116056412	missense variant	-	NC_000011.10:g.112179302C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Thr38Asn	rs116056412	missense variant	-	NC_000011.10:g.112179302C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gln40Glu	rs766432726	missense variant	-	NC_000011.10:g.112179307C>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Val44Ile	rs138791514	missense variant	-	NC_000011.10:g.112179319G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gln47His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112179330G>C	NCI-TCGA
BCO2	Q9BYV7	p.Gln47Lys	rs1483570960	missense variant	-	NC_000011.10:g.112179328C>A	TOPMed
BCO2	Q9BYV7	p.Arg49Trp	rs35361223	missense variant	-	NC_000011.10:g.112179334C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg49Gly	rs35361223	missense variant	-	NC_000011.10:g.112179334C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val54Ile	rs1019388741	missense variant	-	NC_000011.10:g.112179349G>A	gnomAD
BCO2	Q9BYV7	p.Val54Leu	rs1019388741	missense variant	-	NC_000011.10:g.112179349G>C	gnomAD
BCO2	Q9BYV7	p.Ala55Thr	rs374693246	missense variant	-	NC_000011.10:g.112179352G>A	ESP,TOPMed
BCO2	Q9BYV7	p.Pro56Leu	rs767133207	missense variant	-	NC_000011.10:g.112179356C>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Glu63Val	rs1340690101	missense variant	-	NC_000011.10:g.112179377A>T	gnomAD
BCO2	Q9BYV7	p.Ala64Val	rs781104452	missense variant	-	NC_000011.10:g.112179380C>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Arg66Gln	rs542847943	missense variant	-	NC_000011.10:g.112179386G>A	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Arg66Trp	rs138109510	missense variant	-	NC_000011.10:g.112179385C>T	ESP,ExAC,TOPMed
BCO2	Q9BYV7	p.Gly67Ala	rs1438441198	missense variant	-	NC_000011.10:g.112179389G>C	TOPMed
BCO2	Q9BYV7	p.Ile68Val	rs763194285	missense variant	-	NC_000011.10:g.112179391A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Ile68Ser	rs1269253685	missense variant	-	NC_000011.10:g.112179392T>G	gnomAD
BCO2	Q9BYV7	p.Arg71Ter	rs141806338	stop gained	-	NC_000011.10:g.112179400C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg71Gln	rs200317622	missense variant	-	NC_000011.10:g.112179401G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Trp73Ter	rs377379758	stop gained	-	NC_000011.10:g.112179408G>A	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly74Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112179410G>T	NCI-TCGA
BCO2	Q9BYV7	p.Phe76Ser	rs1420077481	missense variant	-	NC_000011.10:g.112179416T>C	TOPMed
BCO2	Q9BYV7	p.Trp79CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.112179425G>-	NCI-TCGA
BCO2	Q9BYV7	p.Asn81Ser	rs1362305032	missense variant	-	NC_000011.10:g.112179431A>G	gnomAD
BCO2	Q9BYV7	p.Asn81Lys	rs1473418275	missense variant	-	NC_000011.10:g.112179432T>A	gnomAD
BCO2	Q9BYV7	p.Gly82Ala	rs753185857	missense variant	-	NC_000011.10:g.112179434G>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Leu84Val	rs760140618	missense variant	-	NC_000011.10:g.112179439C>G	gnomAD
BCO2	Q9BYV7	p.Leu84Pro	rs761129583	missense variant	-	NC_000011.10:g.112179440T>C	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg86Ter	rs199733159	stop gained	-	NC_000011.10:g.112179445C>T	1000Genomes,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg86Gln	rs754125457	missense variant	-	NC_000011.10:g.112179446G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg86Leu	rs754125457	missense variant	-	NC_000011.10:g.112179446G>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile87Val	rs1402341580	missense variant	-	NC_000011.10:g.112179448A>G	gnomAD
BCO2	Q9BYV7	p.Ile87Asn	rs112483486	missense variant	-	NC_000011.10:g.112179449T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile87Thr	rs112483486	missense variant	-	NC_000011.10:g.112179449T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly88Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.112179451G>T	NCI-TCGA
BCO2	Q9BYV7	p.Gly88Glu	rs1326386186	missense variant	-	NC_000011.10:g.112179452G>A	gnomAD
BCO2	Q9BYV7	p.Phe92Leu	rs539947425	missense variant	-	NC_000011.10:g.112179465C>A	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Glu93Lys	rs201459824	missense variant	-	NC_000011.10:g.112179466G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Phe94Leu	rs1323433585	missense variant	-	NC_000011.10:g.112179469T>C	gnomAD
BCO2	Q9BYV7	p.Gly95Arg	rs1001069032	missense variant	-	NC_000011.10:g.112179472G>C	TOPMed
BCO2	Q9BYV7	p.Lys96Asn	rs1222276826	missense variant	-	NC_000011.10:g.112179477G>T	gnomAD
BCO2	Q9BYV7	p.Asp97Asn	rs1258321564	missense variant	-	NC_000011.10:g.112179478G>A	gnomAD
BCO2	Q9BYV7	p.Lys98Asn	rs1411790686	missense variant	-	NC_000011.10:g.112193474G>T	gnomAD
BCO2	Q9BYV7	p.Tyr99Phe	rs777114529	missense variant	-	NC_000011.10:g.112193476A>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Tyr99His	rs764679588	missense variant	-	NC_000011.10:g.112193475T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Asn100Asp	rs762083376	missense variant	-	NC_000011.10:g.112193478A>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.His101Leu	rs766061956	missense variant	-	NC_000011.10:g.112193482A>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.His101Asn	rs1489775673	missense variant	-	NC_000011.10:g.112193481C>A	gnomAD
BCO2	Q9BYV7	p.Trp102Ter	rs754506732	stop gained	-	NC_000011.10:g.112193486G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Trp102Arg	rs751116884	missense variant	-	NC_000011.10:g.112193484T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Trp102Cys	rs754506732	missense variant	-	NC_000011.10:g.112193486G>C	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asp104Val	rs766975166	missense variant	-	NC_000011.10:g.112193491A>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Gly105Arg	rs138588886	missense variant	-	NC_000011.10:g.112193493G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Met106Val	rs1162479781	missense variant	-	NC_000011.10:g.112193496A>G	gnomAD
BCO2	Q9BYV7	p.Ala107Thr	rs148115889	missense variant	-	NC_000011.10:g.112193499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ala107Val	rs368414104	missense variant	-	NC_000011.10:g.112193500C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Leu108Met	rs1392063348	missense variant	-	NC_000011.10:g.112193502C>A	gnomAD
BCO2	Q9BYV7	p.Phe112Ser	rs779206597	missense variant	-	NC_000011.10:g.112193515T>C	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg113Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112193518G>T	NCI-TCGA
BCO2	Q9BYV7	p.Met114Leu	rs746024622	missense variant	-	NC_000011.10:g.112193520A>C	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Met114Thr	rs140910861	missense variant	-	NC_000011.10:g.112193521T>C	1000Genomes,gnomAD
BCO2	Q9BYV7	p.Met114Val	rs746024622	missense variant	-	NC_000011.10:g.112193520A>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ala115Val	rs1469970094	missense variant	-	NC_000011.10:g.112193524C>T	TOPMed
BCO2	Q9BYV7	p.Thr118Arg	rs1265870484	missense variant	-	NC_000011.10:g.112193533C>G	gnomAD
BCO2	Q9BYV7	p.Val119Met	rs1184747063	missense variant	-	NC_000011.10:g.112193535G>A	TOPMed
BCO2	Q9BYV7	p.Thr120Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112193539C>G	NCI-TCGA
BCO2	Q9BYV7	p.Tyr121Asn	rs747076138	missense variant	-	NC_000011.10:g.112193541T>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Ser123Asn	COSM6029197	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112193548G>A	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Phe125Leu	rs1203360711	missense variant	-	NC_000011.10:g.112193553T>C	gnomAD
BCO2	Q9BYV7	p.Leu126Gln	rs1449478903	missense variant	-	NC_000011.10:g.112193557T>A	gnomAD
BCO2	Q9BYV7	p.Gln127Lys	COSM6130949	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112193559C>A	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Ser128Gly	rs1182447876	missense variant	-	NC_000011.10:g.112193562A>G	gnomAD
BCO2	Q9BYV7	p.Thr130Ile	rs190635740	missense variant	-	NC_000011.10:g.112193569C>T	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Thr130Ala	rs1382998510	missense variant	-	NC_000011.10:g.112193568A>G	gnomAD
BCO2	Q9BYV7	p.Lys132Arg	rs762253947	missense variant	-	NC_000011.10:g.112193575A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Ala133Thr	rs372357598	missense variant	-	NC_000011.10:g.112193577G>A	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Ala133Ser	rs372357598	missense variant	-	NC_000011.10:g.112193577G>T	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Asn134Lys	rs139425271	missense variant	-	NC_000011.10:g.112193582C>G	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ala136Thr	rs767134595	missense variant	-	NC_000011.10:g.112193586G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Lys137Glu	rs368513967	missense variant	-	NC_000011.10:g.112193589A>G	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn138ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.112193589A>-	NCI-TCGA
BCO2	Q9BYV7	p.Arg139Gln	rs764094222	missense variant	-	NC_000011.10:g.112193596G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Arg139Ter	rs755615630	stop gained	-	NC_000011.10:g.112193595C>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg139Gly	rs755615630	missense variant	-	NC_000011.10:g.112193595C>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg139Leu	COSM1351286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112193596G>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Glu144Gln	rs1290023241	missense variant	-	NC_000011.10:g.112193610G>C	TOPMed
BCO2	Q9BYV7	p.Thr147Ile	rs1228770892	missense variant	-	NC_000011.10:g.112193620C>T	TOPMed
BCO2	Q9BYV7	p.Leu148Pro	rs1226360055	missense variant	-	NC_000011.10:g.112193623T>C	gnomAD
BCO2	Q9BYV7	p.Ala149Val	rs201916708	missense variant	-	NC_000011.10:g.112193626C>T	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Leu150Phe	rs1465341160	missense variant	-	NC_000011.10:g.112193628C>T	gnomAD
BCO2	Q9BYV7	p.Pro151Leu	rs796410938	missense variant	-	NC_000011.10:g.112193632C>T	TOPMed
BCO2	Q9BYV7	p.Pro151Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112193631C>G	NCI-TCGA
BCO2	Q9BYV7	p.Pro151Arg	rs796410938	missense variant	-	NC_000011.10:g.112193632C>G	TOPMed
BCO2	Q9BYV7	p.Cys154Ter	rs1182038771	stop gained	-	NC_000011.10:g.112193642C>A	gnomAD
BCO2	Q9BYV7	p.Cys154Gly	rs1484009855	missense variant	-	NC_000011.10:g.112193640T>G	TOPMed,gnomAD
BCO2	Q9BYV7	p.Cys154Arg	rs1484009855	missense variant	-	NC_000011.10:g.112193640T>C	TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn156His	rs79045562	missense variant	-	NC_000011.10:g.112193646A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val157Ile	rs768563216	missense variant	-	NC_000011.10:g.112193649G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Arg160Cys	rs1458283378	missense variant	-	NC_000011.10:g.112193658C>T	TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg160His	rs1473090097	missense variant	-	NC_000011.10:g.112193659G>A	TOPMed
BCO2	Q9BYV7	p.Phe165Leu	rs1189943671	missense variant	-	NC_000011.10:g.112193673T>C	TOPMed
BCO2	Q9BYV7	p.Glu166Gly	rs748563533	missense variant	-	NC_000011.10:g.112193677A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Lys170Glu	rs770305385	missense variant	-	NC_000011.10:g.112193688A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Ala171Gly	rs1303584082	missense variant	-	NC_000011.10:g.112193692C>G	gnomAD
BCO2	Q9BYV7	p.Ala171Thr	COSM3687085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112193691G>A	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Ala172Val	rs1407760508	missense variant	-	NC_000011.10:g.112193695C>T	gnomAD
BCO2	Q9BYV7	p.Met174Thr	rs373987135	missense variant	-	NC_000011.10:g.112193882T>C	ESP,TOPMed
BCO2	Q9BYV7	p.Met174Val	rs1301522322	missense variant	-	NC_000011.10:g.112193881A>G	TOPMed
BCO2	Q9BYV7	p.Asn181Thr	rs151077825	missense variant	-	NC_000011.10:g.112193903A>C	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Asn181His	rs776065656	missense variant	-	NC_000011.10:g.112193902A>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Asn181Ser	rs151077825	missense variant	-	NC_000011.10:g.112193903A>G	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Asn181Ile	rs151077825	missense variant	-	NC_000011.10:g.112193903A>T	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Arg184Gln	rs766237700	missense variant	-	NC_000011.10:g.112193912G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg184Trp	rs200053646	missense variant	-	NC_000011.10:g.112193911C>T	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Lys186Arg	rs1188610717	missense variant	-	NC_000011.10:g.112193918A>G	TOPMed
BCO2	Q9BYV7	p.Asp188Gly	rs751370809	missense variant	-	NC_000011.10:g.112193924A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Tyr189Asp	rs1451569801	missense variant	-	NC_000011.10:g.112193926T>G	TOPMed,gnomAD
BCO2	Q9BYV7	p.Cys192Arg	rs1389670993	missense variant	-	NC_000011.10:g.112193935T>C	gnomAD
BCO2	Q9BYV7	p.Glu194Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112193943G>T	NCI-TCGA
BCO2	Q9BYV7	p.Glu194Asp	rs1232265718	missense variant	-	NC_000011.10:g.112193943G>C	TOPMed
BCO2	Q9BYV7	p.Met198Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112193954T>C	NCI-TCGA
BCO2	Q9BYV7	p.Met198Val	rs370064242	missense variant	-	NC_000011.10:g.112193953A>G	ESP,gnomAD
BCO2	Q9BYV7	p.Met198Ile	rs1276908947	missense variant	-	NC_000011.10:g.112193955G>A	TOPMed
BCO2	Q9BYV7	p.Asn199Ser	rs1423691447	missense variant	-	NC_000011.10:g.112193957A>G	gnomAD
BCO2	Q9BYV7	p.Val201Met	rs756152604	missense variant	-	NC_000011.10:g.112193962G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Ile203Thr	rs536357959	missense variant	-	NC_000011.10:g.112193969T>C	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Glu207Gln	rs556041453	missense variant	-	NC_000011.10:g.112193980G>C	1000Genomes
BCO2	Q9BYV7	p.Glu207Ter	COSM4909589	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.112193980G>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Thr209Ile	rs1321407097	missense variant	-	NC_000011.10:g.112193987C>T	TOPMed
BCO2	Q9BYV7	p.Glu210Gly	rs757645514	missense variant	-	NC_000011.10:g.112193990A>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Lys211Glu	rs1398157527	missense variant	-	NC_000011.10:g.112193992A>G	TOPMed
BCO2	Q9BYV7	p.Val212Ile	rs747797575	missense variant	-	NC_000011.10:g.112194653G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Trp214Cys	COSM6067340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112194661G>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Ser215Cys	rs1483074910	missense variant	-	NC_000011.10:g.112194662A>T	TOPMed
BCO2	Q9BYV7	p.Ser215Asn	rs769540991	missense variant	-	NC_000011.10:g.112194663G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Lys216Asn	rs772900262	missense variant	-	NC_000011.10:g.112194667A>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Phe217Leu	rs1226306776	missense variant	-	NC_000011.10:g.112194670T>G	TOPMed
BCO2	Q9BYV7	p.Phe217Ser	COSM923099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112194669T>C	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Phe217Cys	COSM4017857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112194669T>G	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Ile218Met	rs376257331	missense variant	-	NC_000011.10:g.112194673T>G	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn221Ser	rs1449202670	missense variant	-	NC_000011.10:g.112194681A>G	gnomAD
BCO2	Q9BYV7	p.Gly222Ter	rs1327677539	stop gained	-	NC_000011.10:g.112194683G>T	gnomAD
BCO2	Q9BYV7	p.Gly222Val	rs1309701978	missense variant	-	NC_000011.10:g.112194684G>T	TOPMed
BCO2	Q9BYV7	p.Ala223Thr	rs774276400	missense variant	-	NC_000011.10:g.112194686G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Ala225Ser	rs1198815097	missense variant	-	NC_000011.10:g.112194692G>T	TOPMed,gnomAD
BCO2	Q9BYV7	p.His226Arg	rs1258450400	missense variant	-	NC_000011.10:g.112194696A>G	gnomAD
BCO2	Q9BYV7	p.His228Tyr	COSM686378	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112194701C>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Tyr229Asn	rs759263094	missense variant	-	NC_000011.10:g.112194704T>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Leu231Gln	rs10891338	missense variant	-	NC_000011.10:g.112194711T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Leu231Pro	rs10891338	missense variant	-	NC_000011.10:g.112194711T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asp232Glu	rs1473467371	missense variant	-	NC_000011.10:g.112194715T>A	gnomAD
BCO2	Q9BYV7	p.Gly233Arg	rs760923340	missense variant	-	NC_000011.10:g.112194716G>A	ExAC
BCO2	Q9BYV7	p.Thr234Arg	rs1339418719	missense variant	-	NC_000011.10:g.112194720C>G	gnomAD
BCO2	Q9BYV7	p.Thr234Ala	rs764276136	missense variant	-	NC_000011.10:g.112194719A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Tyr236Phe	rs1402458836	missense variant	-	NC_000011.10:g.112194726A>T	TOPMed,gnomAD
BCO2	Q9BYV7	p.Tyr236Asn	rs753973136	missense variant	-	NC_000011.10:g.112194725T>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Tyr236Cys	rs1402458836	missense variant	-	NC_000011.10:g.112194726A>G	TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn237Ser	rs370292851	missense variant	-	NC_000011.10:g.112194729A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Met238Val	rs765749418	missense variant	-	NC_000011.10:g.112194731A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Asn240Ile	rs1412093114	missense variant	-	NC_000011.10:g.112194738A>T	gnomAD
BCO2	Q9BYV7	p.Asn240Asp	rs1410444325	missense variant	-	NC_000011.10:g.112194737A>G	TOPMed
BCO2	Q9BYV7	p.Phe242Val	rs750897339	missense variant	-	NC_000011.10:g.112194743T>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Gly243Arg	rs780508988	missense variant	-	NC_000011.10:g.112194746G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Tyr245His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112194752T>C	NCI-TCGA
BCO2	Q9BYV7	p.Tyr245Ter	rs755891437	stop gained	-	NC_000011.10:g.112194754T>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Tyr245Cys	rs1204650375	missense variant	-	NC_000011.10:g.112194753A>G	gnomAD
BCO2	Q9BYV7	p.Gly246Asp	rs1211528857	missense variant	-	NC_000011.10:g.112199699G>A	gnomAD
BCO2	Q9BYV7	p.Ser248Phe	COSM3443414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199705C>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Tyr249Cys	rs146824071	missense variant	-	NC_000011.10:g.112199708A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Tyr249Ser	rs146824071	missense variant	-	NC_000011.10:g.112199708A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Lys250Asn	rs778522647	missense variant	-	NC_000011.10:g.112199712G>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Lys250Glu	rs756857684	missense variant	-	NC_000011.10:g.112199710A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Ile252Met	rs1449760579	missense variant	-	NC_000011.10:g.112199718T>G	gnomAD
BCO2	Q9BYV7	p.Arg253Trp	rs759262486	missense variant	-	NC_000011.10:g.112199719C>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg253Gly	rs759262486	missense variant	-	NC_000011.10:g.112199719C>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg253Gln	rs202172820	missense variant	-	NC_000011.10:g.112199720G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val254Phe	rs746823392	missense variant	-	NC_000011.10:g.112199722G>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Pro255Ser	COSM3868421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199725C>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Pro255Leu	COSM3443415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199726C>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Glu257Lys	rs1295741696	missense variant	-	NC_000011.10:g.112199731G>A	gnomAD
BCO2	Q9BYV7	p.Glu257Gly	rs768394271	missense variant	-	NC_000011.10:g.112199732A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Asp260Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112199740G>A	NCI-TCGA
BCO2	Q9BYV7	p.Leu261Pro	rs1434452636	missense variant	-	NC_000011.10:g.112199744T>C	gnomAD
BCO2	Q9BYV7	p.Gly262Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112199746G>A	NCI-TCGA
BCO2	Q9BYV7	p.Thr264Ser	rs776873906	missense variant	-	NC_000011.10:g.112199752A>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Ile265Val	rs762066142	missense variant	-	NC_000011.10:g.112199755A>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile265Asn	rs201346935	missense variant	-	NC_000011.10:g.112199756T>A	1000Genomes
BCO2	Q9BYV7	p.His266Pro	rs769886791	missense variant	-	NC_000011.10:g.112199759A>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Val268Ala	rs921403162	missense variant	-	NC_000011.10:g.112199765T>C	TOPMed
BCO2	Q9BYV7	p.Val270Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112199771T>C	NCI-TCGA
BCO2	Q9BYV7	p.Val270Met	COSM1351287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199770G>A	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Ile271Val	rs773399284	missense variant	-	NC_000011.10:g.112199773A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Cys272Tyr	rs762939938	missense variant	-	NC_000011.10:g.112199777G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Cys272Ser	rs911984959	missense variant	-	NC_000011.10:g.112199776T>A	gnomAD
BCO2	Q9BYV7	p.Cys272Arg	rs911984959	missense variant	-	NC_000011.10:g.112199776T>C	gnomAD
BCO2	Q9BYV7	p.Ile274Val	rs766915126	missense variant	-	NC_000011.10:g.112199782A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Ala275Val	COSM4017858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112199786C>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Thr277Ala	rs1457223003	missense variant	-	NC_000011.10:g.112199791A>G	TOPMed
BCO2	Q9BYV7	p.Thr277Arg	rs202014484	missense variant	-	NC_000011.10:g.112199792C>G	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Pro282Leu	rs576063148	missense variant	-	NC_000011.10:g.112199807C>T	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ser283Phe	rs1359460201	missense variant	-	NC_000011.10:g.112199810C>T	gnomAD
BCO2	Q9BYV7	p.Tyr284His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112199812T>C	NCI-TCGA
BCO2	Q9BYV7	p.His286Arg	rs1422360608	missense variant	-	NC_000011.10:g.112199819A>G	TOPMed,gnomAD
BCO2	Q9BYV7	p.His286Tyr	rs767953147	missense variant	-	NC_000011.10:g.112199818C>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Ser287Arg	rs140187711	missense variant	-	NC_000011.10:g.112199823C>A	1000Genomes,gnomAD
BCO2	Q9BYV7	p.Ser287Asn	rs1301368161	missense variant	-	NC_000011.10:g.112199822G>A	TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly289Glu	rs17113607	missense variant	-	NC_000011.10:g.112200613G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly289Ter	rs753077371	stop gained	-	NC_000011.10:g.112199827G>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Met290Val	rs142996860	missense variant	-	NC_000011.10:g.112200615A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Thr291Ala	rs1159089043	missense variant	-	NC_000011.10:g.112200618A>G	TOPMed
BCO2	Q9BYV7	p.Thr291Ile	rs151085894	missense variant	-	NC_000011.10:g.112200619C>T	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg292Gly	rs369982780	missense variant	-	NC_000011.10:g.112200621A>G	ESP,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn293Lys	rs1177235843	missense variant	-	NC_000011.10:g.112200626C>G	TOPMed
BCO2	Q9BYV7	p.Tyr294His	rs755809066	missense variant	-	NC_000011.10:g.112200627T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Tyr294Cys	rs917625567	missense variant	-	NC_000011.10:g.112200628A>G	TOPMed,gnomAD
BCO2	Q9BYV7	p.Tyr294Asn	rs755809066	missense variant	-	NC_000011.10:g.112200627T>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Ile295Leu	rs771153659	missense variant	-	NC_000011.10:g.112200630A>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Ile295Thr	rs1313554352	missense variant	-	NC_000011.10:g.112200631T>C	gnomAD
BCO2	Q9BYV7	p.Ile296Val	rs1224219092	missense variant	-	NC_000011.10:g.112200633A>G	TOPMed
BCO2	Q9BYV7	p.Ile298Val	rs1458052358	missense variant	-	NC_000011.10:g.112200639A>G	TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile298Ser	rs774618293	missense variant	-	NC_000011.10:g.112200640T>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Gln300Leu	rs1158912016	missense variant	-	NC_000011.10:g.112200646A>T	gnomAD
BCO2	Q9BYV7	p.Pro301Ser	rs1343005969	missense variant	-	NC_000011.10:g.112200648C>T	gnomAD
BCO2	Q9BYV7	p.Pro301Arg	rs745926145	missense variant	-	NC_000011.10:g.112200649C>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Leu302Val	rs1459121120	missense variant	-	NC_000011.10:g.112200651C>G	gnomAD
BCO2	Q9BYV7	p.Ile309Thr	rs183792404	missense variant	-	NC_000011.10:g.112200673T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ala310Thr	rs1008239570	missense variant	-	NC_000011.10:g.112200675G>A	TOPMed,gnomAD
BCO2	Q9BYV7	p.Thr311Pro	rs199747265	missense variant	-	NC_000011.10:g.112200678A>C	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Ser312Phe	rs1423203879	missense variant	-	NC_000011.10:g.112200682C>T	gnomAD
BCO2	Q9BYV7	p.Ser312Tyr	rs1423203879	missense variant	-	NC_000011.10:g.112200682C>A	gnomAD
BCO2	Q9BYV7	p.Lys313Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112200686A>C	NCI-TCGA
BCO2	Q9BYV7	p.Lys313Ter	rs762566089	stop gained	-	NC_000011.10:g.112200684A>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Arg315Gln	rs149111346	missense variant	-	NC_000011.10:g.112200691G>A	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg315Pro	rs149111346	missense variant	-	NC_000011.10:g.112200691G>C	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg315Trp	rs201362479	missense variant	-	NC_000011.10:g.112200690C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly316GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.112200691G>-	NCI-TCGA
BCO2	Q9BYV7	p.Gly316Arg	rs143189473	missense variant	-	NC_000011.10:g.112200693G>A	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly316Glu	rs752526303	missense variant	-	NC_000011.10:g.112200694G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly316Val	rs752526303	missense variant	-	NC_000011.10:g.112200694G>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Lys317Gln	rs1435721168	missense variant	-	NC_000011.10:g.112200696A>C	gnomAD
BCO2	Q9BYV7	p.Ala318Thr	rs1291743917	missense variant	-	NC_000011.10:g.112200699G>A	gnomAD
BCO2	Q9BYV7	p.Ala318Val	rs200620260	missense variant	-	NC_000011.10:g.112200700C>T	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Phe319Leu	COSM1351288	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112200702T>C	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Ser320Pro	rs1049620068	missense variant	-	NC_000011.10:g.112200705T>C	TOPMed,gnomAD
BCO2	Q9BYV7	p.Asp321Gly	rs777468697	missense variant	-	NC_000011.10:g.112200709A>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile323Met	rs1347415009	missense variant	-	NC_000011.10:g.112200716A>G	TOPMed
BCO2	Q9BYV7	p.Ser324Asn	rs148237186	missense variant	-	NC_000011.10:g.112200718G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ser324Thr	rs148237186	missense variant	-	NC_000011.10:g.112200718G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Trp325Cys	COSM6130948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112200722G>C	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Glu326Ala	rs757607023	missense variant	-	NC_000011.10:g.112200724A>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Pro327Thr	rs779269469	missense variant	-	NC_000011.10:g.112200726C>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Pro327Leu	rs79220685	missense variant	-	NC_000011.10:g.112200727C>T	1000Genomes,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gln328Arg	rs745944544	missense variant	-	NC_000011.10:g.112200730A>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Cys329Arg	rs568027350	missense variant	-	NC_000011.10:g.112200732T>C	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Cys329Ter	rs780740974	stop gained	-	NC_000011.10:g.112200734T>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn330Thr	rs1008187720	missense variant	-	NC_000011.10:g.112200736A>C	TOPMed,gnomAD
BCO2	Q9BYV7	p.Thr331Met	rs141269805	missense variant	-	NC_000011.10:g.112200739C>T	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Thr331AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.112200737_112200738insA	NCI-TCGA
BCO2	Q9BYV7	p.Arg332Trp	rs115780398	missense variant	-	NC_000011.10:g.112200741C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg332Gln	rs201893014	missense variant	-	NC_000011.10:g.112200742G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg332Pro	rs201893014	missense variant	-	NC_000011.10:g.112200742G>C	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Phe333Ser	COSM4017860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112200745T>C	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.His334Arg	rs1404576614	missense variant	-	NC_000011.10:g.112200748A>G	TOPMed,gnomAD
BCO2	Q9BYV7	p.His334Pro	rs1404576614	missense variant	-	NC_000011.10:g.112200748A>C	TOPMed,gnomAD
BCO2	Q9BYV7	p.Val335Met	rs370231318	missense variant	-	NC_000011.10:g.112200750G>A	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val335Ala	rs1380934346	missense variant	-	NC_000011.10:g.112200751T>C	TOPMed
BCO2	Q9BYV7	p.Val336Met	rs1473207753	missense variant	-	NC_000011.10:g.112200753G>A	gnomAD
BCO2	Q9BYV7	p.Glu337Gly	rs1441004188	missense variant	-	NC_000011.10:g.112200757A>G	TOPMed,gnomAD
BCO2	Q9BYV7	p.Glu337Gln	rs1351554859	missense variant	-	NC_000011.10:g.112200756G>C	TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg339Cys	rs374481296	missense variant	-	NC_000011.10:g.112200762C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg339Ser	rs374481296	missense variant	-	NC_000011.10:g.112200762C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg339His	rs752219938	missense variant	-	NC_000011.10:g.112200763G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Thr340Ala	rs541148470	missense variant	-	NC_000011.10:g.112200765A>G	1000Genomes,ExAC
BCO2	Q9BYV7	p.Thr340Ser	rs764075672	missense variant	-	NC_000011.10:g.112200766C>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Gln342Arg	rs1288344379	missense variant	-	NC_000011.10:g.112200772A>G	gnomAD
BCO2	Q9BYV7	p.Gln342Ter	rs1228112270	stop gained	-	NC_000011.10:g.112200771C>T	gnomAD
BCO2	Q9BYV7	p.Leu343Arg	rs755029015	missense variant	-	NC_000011.10:g.112202024T>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Leu343His	rs755029015	missense variant	-	NC_000011.10:g.112202024T>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly346Glu	rs577436841	missense variant	-	NC_000011.10:g.112202033G>A	1000Genomes
BCO2	Q9BYV7	p.Arg347Lys	COSM923101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112202036G>A	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Tyr348His	rs1431460734	missense variant	-	NC_000011.10:g.112202038T>C	TOPMed
BCO2	Q9BYV7	p.Ser350Asn	rs1370935305	missense variant	-	NC_000011.10:g.112202045G>A	TOPMed
BCO2	Q9BYV7	p.Phe353Ile	rs143564179	missense variant	-	NC_000011.10:g.112202053T>A	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Val354Ile	rs181898566	missense variant	-	NC_000011.10:g.112202056G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.His357Arg	rs143616587	missense variant	-	NC_000011.10:g.112202066A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.His357Tyr	rs147138798	missense variant	-	NC_000011.10:g.112202065C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Gln358Ter	rs1189658160	stop gained	-	NC_000011.10:g.112202068C>T	TOPMed
BCO2	Q9BYV7	p.Asn360Ser	rs149630445	missense variant	-	NC_000011.10:g.112202075A>G	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn360His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112202074A>C	NCI-TCGA
BCO2	Q9BYV7	p.Ala361Asp	rs550194496	missense variant	-	NC_000011.10:g.112202078C>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asp364Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112202087A>G	NCI-TCGA
BCO2	Q9BYV7	p.Asp364Tyr	rs939507133	missense variant	-	NC_000011.10:g.112202086G>T	TOPMed,gnomAD
BCO2	Q9BYV7	p.Gln365His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112202091G>T	NCI-TCGA
BCO2	Q9BYV7	p.Gly366Arg	rs1349258106	missense variant	-	NC_000011.10:g.112202092G>C	gnomAD
BCO2	Q9BYV7	p.Cys367Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112202095T>C	NCI-TCGA
BCO2	Q9BYV7	p.Cys367Phe	rs768162198	missense variant	-	NC_000011.10:g.112202096G>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile369Thr	rs761892067	missense variant	-	NC_000011.10:g.112202102T>C	ExAC
BCO2	Q9BYV7	p.Ile369Val	rs775975502	missense variant	-	NC_000011.10:g.112202101A>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile370Thr	rs1198906164	missense variant	-	NC_000011.10:g.112202105T>C	gnomAD
BCO2	Q9BYV7	p.Cys373Arg	rs1222434633	missense variant	-	NC_000011.10:g.112202113T>C	TOPMed
BCO2	Q9BYV7	p.Cys374Trp	rs765253719	missense variant	-	NC_000011.10:g.112202118T>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Gln375Glu	rs892694554	missense variant	-	NC_000011.10:g.112202119C>G	TOPMed
BCO2	Q9BYV7	p.Asn377Ser	rs368339019	missense variant	-	NC_000011.10:g.112202126A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn377Asp	rs1267726780	missense variant	-	NC_000011.10:g.112202125A>G	TOPMed
BCO2	Q9BYV7	p.Gly378Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112202129G>T	NCI-TCGA
BCO2	Q9BYV7	p.Arg379Gly	rs762774358	missense variant	-	NC_000011.10:g.112202131A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Glu382Gly	rs1483456723	missense variant	-	NC_000011.10:g.112202141A>G	gnomAD
BCO2	Q9BYV7	p.Tyr384Ter	rs144400560	stop gained	-	NC_000011.10:g.112202148C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Tyr384Cys	rs751758899	missense variant	-	NC_000011.10:g.112202147A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Tyr384Phe	rs751758899	missense variant	-	NC_000011.10:g.112202147A>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Gln385Arg	rs958639963	missense variant	-	NC_000011.10:g.112202150A>G	gnomAD
BCO2	Q9BYV7	p.Gln385Glu	rs543089317	missense variant	-	NC_000011.10:g.112202149C>G	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Leu386Phe	rs1350898254	missense variant	-	NC_000011.10:g.112202154A>C	TOPMed
BCO2	Q9BYV7	p.Asn388Ser	rs991779626	missense variant	-	NC_000011.10:g.112202159A>G	TOPMed,gnomAD
BCO2	Q9BYV7	p.Leu389Pro	rs752748181	missense variant	-	NC_000011.10:g.112202162T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Lys391Ter	rs756668779	stop gained	-	NC_000011.10:g.112202167A>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Glu394Lys	rs1182825177	missense variant	-	NC_000011.10:g.112202176G>A	TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly395Arg	rs778243985	missense variant	-	NC_000011.10:g.112202179G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Gly395Glu	rs1330184709	missense variant	-	NC_000011.10:g.112202180G>A	TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly395Arg	rs778243985	missense variant	-	NC_000011.10:g.112202179G>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Leu396Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112202183T>C	NCI-TCGA
BCO2	Q9BYV7	p.Gln398Arg	rs779594295	missense variant	-	NC_000011.10:g.112202189A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Val399Phe	rs777703883	missense variant	-	NC_000011.10:g.112213724G>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val399Ile	rs777703883	missense variant	-	NC_000011.10:g.112213724G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.His400Arg	rs148763597	missense variant	-	NC_000011.10:g.112213728A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asn401Lys	rs1214993360	missense variant	-	NC_000011.10:g.112213732T>A	TOPMed,gnomAD
BCO2	Q9BYV7	p.Ser402Thr	rs1253128271	missense variant	-	NC_000011.10:g.112213733T>A	gnomAD
BCO2	Q9BYV7	p.Ala403Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112213736G>A	NCI-TCGA
BCO2	Q9BYV7	p.Ala403Val	rs1355592560	missense variant	-	NC_000011.10:g.112213737C>T	TOPMed
BCO2	Q9BYV7	p.Phe407Cys	rs143776374	missense variant	-	NC_000011.10:g.112213749T>G	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg409Gln	rs779386293	missense variant	-	NC_000011.10:g.112213755G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg409Ter	rs903302413	stop gained	-	NC_000011.10:g.112213754C>T	-
BCO2	Q9BYV7	p.Arg410Trp	rs78952668	missense variant	-	NC_000011.10:g.112213757A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val412Phe	rs553742833	missense variant	-	NC_000011.10:g.112213763G>T	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Asn416Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112213775A>G	NCI-TCGA
BCO2	Q9BYV7	p.Asn416Ser	rs1299328459	missense variant	-	NC_000011.10:g.112213776A>G	TOPMed
BCO2	Q9BYV7	p.Val417Asp	rs747678472	missense variant	-	NC_000011.10:g.112213779T>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val417Ala	rs747678472	missense variant	-	NC_000011.10:g.112213779T>C	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val417Ile	rs780925251	missense variant	-	NC_000011.10:g.112213778G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Ser418Asn	rs1368332362	missense variant	-	NC_000011.10:g.112213782G>A	TOPMed
BCO2	Q9BYV7	p.Pro422Thr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112213793C>A	NCI-TCGA
BCO2	Q9BYV7	p.Glu423Lys	rs553884859	missense variant	-	NC_000011.10:g.112213796G>A	1000Genomes,gnomAD
BCO2	Q9BYV7	p.Glu423Asp	COSM6067338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112213798G>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Gly424Val	rs1287262852	missense variant	-	NC_000011.10:g.112213800G>T	TOPMed,gnomAD
BCO2	Q9BYV7	p.Asp425Glu	rs770750319	missense variant	-	NC_000011.10:g.112213804C>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Asp425Asn	rs749290602	missense variant	-	NC_000011.10:g.112213802G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Asn426His	rs1398310492	missense variant	-	NC_000011.10:g.112213805A>C	TOPMed
BCO2	Q9BYV7	p.Leu430Ser	rs1362919978	missense variant	-	NC_000011.10:g.112213818T>C	TOPMed
BCO2	Q9BYV7	p.Tyr432Cys	rs774257868	missense variant	-	NC_000011.10:g.112213824A>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Thr433Ile	COSM4900034	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112213827C>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Ala435Val	rs775631328	missense variant	-	NC_000011.10:g.112213833C>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Ser436Cys	rs1327806379	missense variant	-	NC_000011.10:g.112213835A>T	gnomAD
BCO2	Q9BYV7	p.Ala437Ser	rs760765925	missense variant	-	NC_000011.10:g.112213838G>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val438Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112213841G>A	NCI-TCGA
BCO2	Q9BYV7	p.Gln440His	rs1486017252	missense variant	-	NC_000011.10:g.112213849G>T	TOPMed,gnomAD
BCO2	Q9BYV7	p.Ala441Asp	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112213851C>A	NCI-TCGA
BCO2	Q9BYV7	p.Asp442Asn	rs753828446	missense variant	-	NC_000011.10:g.112213853G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Gly443Arg	COSM3443416	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112213856G>A	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Thr444Lys	rs146858215	missense variant	-	NC_000011.10:g.112213860C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Thr444Met	rs146858215	missense variant	-	NC_000011.10:g.112213860C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Trp446Leu	rs755885754	missense variant	-	NC_000011.10:g.112214766G>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Trp446Cys	rs763831109	missense variant	-	NC_000011.10:g.112214767G>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Cys447Gly	rs753389417	missense variant	-	NC_000011.10:g.112214768T>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Ser448Ala	rs778931681	missense variant	-	NC_000011.10:g.112214771T>G	ExAC
BCO2	Q9BYV7	p.Ser448Cys	rs150993927	missense variant	-	NC_000011.10:g.112214772C>G	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Leu452Arg	rs1159730473	missense variant	-	NC_000011.10:g.112214784T>G	TOPMed
BCO2	Q9BYV7	p.His453Tyr	rs779871339	missense variant	-	NC_000011.10:g.112214786C>T	ExAC
BCO2	Q9BYV7	p.Gln454Ter	rs746804943	stop gained	-	NC_000011.10:g.112214789C>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Glu455Gln	rs370755350	missense variant	-	NC_000011.10:g.112214792G>C	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Glu455Lys	rs370755350	missense variant	-	NC_000011.10:g.112214792G>A	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Asp456Asn	rs748282360	missense variant	-	NC_000011.10:g.112214795G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Leu457Pro	rs769725725	missense variant	-	NC_000011.10:g.112214799T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Glu458Gln	rs140774357	missense variant	-	NC_000011.10:g.112214801G>C	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Gly462Asp	rs139612323	missense variant	-	NC_000011.10:g.112214814G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile463Thr	rs1435109112	missense variant	-	NC_000011.10:g.112214817T>C	gnomAD
BCO2	Q9BYV7	p.Ile463Val	rs1355110756	missense variant	-	NC_000011.10:g.112214816A>G	gnomAD
BCO2	Q9BYV7	p.Phe465Cys	rs547198079	missense variant	-	NC_000011.10:g.112214823T>G	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Pro466Ser	COSM3443418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112214825C>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Gln467Ter	rs763816506	stop gained	-	NC_000011.10:g.112214828C>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Gln467His	rs371634319	missense variant	-	NC_000011.10:g.112214830G>C	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Ile468Val	rs756822165	missense variant	-	NC_000011.10:g.112214831A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Tyr470Cys	rs374509038	missense variant	-	NC_000011.10:g.112214838A>G	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg472Ter	rs144345630	stop gained	-	NC_000011.10:g.112214843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg472Gln	rs146534695	missense variant	-	NC_000011.10:g.112214844G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Phe473Leu	rs779902095	missense variant	-	NC_000011.10:g.112214846T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Phe473Leu	rs550136060	missense variant	-	NC_000011.10:g.112214848C>G	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Ser474Thr	rs1286665591	missense variant	-	NC_000011.10:g.112214850G>C	TOPMed
BCO2	Q9BYV7	p.Gly475Val	rs1271304391	missense variant	-	NC_000011.10:g.112214853G>T	gnomAD
BCO2	Q9BYV7	p.Lys476Glu	rs914755089	missense variant	-	NC_000011.10:g.112214855A>G	TOPMed
BCO2	Q9BYV7	p.Lys477Arg	rs1241749435	missense variant	-	NC_000011.10:g.112214859A>G	gnomAD
BCO2	Q9BYV7	p.His479Pro	rs1474301428	missense variant	-	NC_000011.10:g.112214865A>C	gnomAD
BCO2	Q9BYV7	p.Phe480Leu	rs754720038	missense variant	-	NC_000011.10:g.112214867T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Phe480Leu	rs781512153	missense variant	-	NC_000011.10:g.112214869C>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Phe481Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112214870T>C	NCI-TCGA
BCO2	Q9BYV7	p.Tyr482His	rs1268316090	missense variant	-	NC_000011.10:g.112214873T>C	gnomAD
BCO2	Q9BYV7	p.Gly483Ser	rs770037807	missense variant	-	NC_000011.10:g.112214876G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Cys484Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112214880G>T	NCI-TCGA
BCO2	Q9BYV7	p.Cys484Trp	rs777777143	missense variant	-	NC_000011.10:g.112214881T>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Gly485Val	rs1461522231	missense variant	-	NC_000011.10:g.112214883G>T	gnomAD
BCO2	Q9BYV7	p.Arg487Trp	rs774937117	missense variant	-	NC_000011.10:g.112214888C>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg487Gln	rs759998420	missense variant	-	NC_000011.10:g.112214889G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.His488Tyr	rs1363126893	missense variant	-	NC_000011.10:g.112214891C>T	gnomAD
BCO2	Q9BYV7	p.Gly491Arg	rs539099785	missense variant	-	NC_000011.10:g.112214900G>A	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Gly491Trp	rs539099785	missense variant	-	NC_000011.10:g.112214900G>T	1000Genomes,ExAC,gnomAD
BCO2	Q9BYV7	p.Leu494Val	rs140943596	missense variant	-	NC_000011.10:g.112214909C>G	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Asp498Val	rs762393662	missense variant	-	NC_000011.10:g.112214922A>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Val499Leu	rs766326742	missense variant	-	NC_000011.10:g.112214924G>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Val500Met	rs370161382	missense variant	-	NC_000011.10:g.112214927G>A	ESP,ExAC,gnomAD
BCO2	Q9BYV7	p.Asn501Thr	rs575732625	missense variant	-	NC_000011.10:g.112214931A>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Lys502Glu	rs780902962	missense variant	-	NC_000011.10:g.112214933A>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Leu504Pro	rs1041142833	missense variant	-	NC_000011.10:g.112214940T>C	TOPMed,gnomAD
BCO2	Q9BYV7	p.Val506Ile	rs150159392	missense variant	-	NC_000011.10:g.112216220G>A	ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val506Ala	COSM3443419	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112216221T>C	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Glu509Ter	COSM923104	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.112216229G>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Glu509Lys	rs769025069	missense variant	-	NC_000011.10:g.112216229G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Asp510Asn	rs1452226456	missense variant	-	NC_000011.10:g.112216232G>A	TOPMed,gnomAD
BCO2	Q9BYV7	p.Gly511Asp	rs776951309	missense variant	-	NC_000011.10:g.112216236G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Tyr513Ter	rs770561943	stop gained	-	NC_000011.10:g.112216243T>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Ser515Ter	COSM428420	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.112216248C>G	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Pro517Arg	rs1395049921	missense variant	-	NC_000011.10:g.112216254C>G	gnomAD
BCO2	Q9BYV7	p.Pro517Ser	COSM1676441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112216253C>T	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Phe519Leu	rs767367048	missense variant	-	NC_000011.10:g.112216259T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Val520Ile	rs767481704	missense variant	-	NC_000011.10:g.112216262G>A	gnomAD
BCO2	Q9BYV7	p.Val520Phe	rs767481704	missense variant	-	NC_000011.10:g.112216262G>T	gnomAD
BCO2	Q9BYV7	p.Pro521Ser	rs775447491	missense variant	-	NC_000011.10:g.112216265C>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Pro521Ala	rs775447491	missense variant	-	NC_000011.10:g.112216265C>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Pro523Leu	rs111370662	missense variant	-	NC_000011.10:g.112216272C>T	TOPMed
BCO2	Q9BYV7	p.Pro523Gln	rs111370662	missense variant	-	NC_000011.10:g.112216272C>A	TOPMed
BCO2	Q9BYV7	p.Gly524Glu	rs760414114	missense variant	-	NC_000011.10:g.112216275G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Thr525Ile	rs1331401420	missense variant	-	NC_000011.10:g.112216278C>T	gnomAD
BCO2	Q9BYV7	p.Thr525Ala	rs150855336	missense variant	-	NC_000011.10:g.112216277A>G	1000Genomes,ExAC
BCO2	Q9BYV7	p.Thr525Asn	rs1331401420	missense variant	-	NC_000011.10:g.112216278C>A	gnomAD
BCO2	Q9BYV7	p.Asn526Ser	rs200147503	missense variant	-	NC_000011.10:g.112216281A>G	1000Genomes,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Glu528Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112216287A>C	NCI-TCGA
BCO2	Q9BYV7	p.Asp529Asn	rs1203365370	missense variant	-	NC_000011.10:g.112216289G>A	TOPMed
BCO2	Q9BYV7	p.Gly530Asp	rs750581577	missense variant	-	NC_000011.10:g.112216293G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Gly530Ser	rs765550486	missense variant	-	NC_000011.10:g.112216292G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Gly531Glu	rs758456879	missense variant	-	NC_000011.10:g.112216296G>A	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile533Val	rs780457367	missense variant	-	NC_000011.10:g.112216301A>G	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile533Met	rs139841265	missense variant	-	NC_000011.10:g.112216303T>G	1000Genomes
BCO2	Q9BYV7	p.Leu534Phe	rs1196349382	missense variant	-	NC_000011.10:g.112216304C>T	TOPMed
BCO2	Q9BYV7	p.Val537Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112216313G>A	NCI-TCGA
BCO2	Q9BYV7	p.Ile538Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112216316A>T	NCI-TCGA
BCO2	Q9BYV7	p.Gln542Pro	rs747591724	missense variant	-	NC_000011.10:g.112216329A>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Gln542Ter	rs1358683968	stop gained	-	NC_000011.10:g.112216328C>T	TOPMed
BCO2	Q9BYV7	p.Asn543Lys	rs1468450988	missense variant	-	NC_000011.10:g.112217763T>A	TOPMed,gnomAD
BCO2	Q9BYV7	p.Glu544Lys	rs1350652976	missense variant	-	NC_000011.10:g.112217764G>A	gnomAD
BCO2	Q9BYV7	p.Ile548Thr	rs781615098	missense variant	-	NC_000011.10:g.112217777T>C	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ile548Leu	rs2217401	missense variant	-	NC_000011.10:g.112217776A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Val550Ile	rs756419342	missense variant	-	NC_000011.10:g.112217782G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Val550Leu	rs756419342	missense variant	-	NC_000011.10:g.112217782G>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Asp552Glu	rs113614882	missense variant	-	NC_000011.10:g.112217790T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ala553Gly	rs771598795	missense variant	-	NC_000011.10:g.112217792C>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Lys554Met	rs1353552210	missense variant	-	NC_000011.10:g.112217795A>T	gnomAD
BCO2	Q9BYV7	p.Gly560Ser	rs1229339107	missense variant	-	NC_000011.10:g.112217812G>A	TOPMed
BCO2	Q9BYV7	p.Arg561Gln	rs1315847139	missense variant	-	NC_000011.10:g.112217816G>A	TOPMed,gnomAD
BCO2	Q9BYV7	p.Arg561Ter	rs746511655	stop gained	-	NC_000011.10:g.112217815C>T	ExAC,TOPMed,gnomAD
BCO2	Q9BYV7	p.Ala562Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112217819C>G	NCI-TCGA
BCO2	Q9BYV7	p.Glu563Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112217821G>A	NCI-TCGA
BCO2	Q9BYV7	p.Glu563Ala	rs776651909	missense variant	-	NC_000011.10:g.112217822A>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Glu563Ter	rs1489471243	stop gained	-	NC_000011.10:g.112217821G>T	gnomAD
BCO2	Q9BYV7	p.Pro565His	COSM294165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.112217828C>A	NCI-TCGA Cosmic
BCO2	Q9BYV7	p.Met568Thr	rs769751190	missense variant	-	NC_000011.10:g.112217837T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Met568Leu	rs761732355	missense variant	-	NC_000011.10:g.112217836A>T	ExAC,gnomAD
BCO2	Q9BYV7	p.Pro569Leu	rs1190734705	missense variant	-	NC_000011.10:g.112217840C>T	TOPMed,gnomAD
BCO2	Q9BYV7	p.Tyr570Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112217843A>T	NCI-TCGA
BCO2	Q9BYV7	p.Gly571Arg	rs772862830	missense variant	-	NC_000011.10:g.112217845G>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Phe572Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.112217848T>C	NCI-TCGA
BCO2	Q9BYV7	p.Gly574Arg	rs766507953	missense variant	-	NC_000011.10:g.112217854G>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Thr575Ala	rs1420069648	missense variant	-	NC_000011.10:g.112217857A>G	gnomAD
BCO2	Q9BYV7	p.Ile577Thr	rs1455289500	missense variant	-	NC_000011.10:g.112217864T>C	TOPMed
BCO2	Q9BYV7	p.ProIleTer578Unk	rs762463992	stop lost	-	NC_000011.10:g.112217867_112217873del	ExAC
BCO2	Q9BYV7	p.Pro578Ser	rs774460713	missense variant	-	NC_000011.10:g.112217866C>T	ExAC,TOPMed
BCO2	Q9BYV7	p.Ile579Asn	rs759558199	missense variant	-	NC_000011.10:g.112217870T>A	ExAC,gnomAD
BCO2	Q9BYV7	p.Ile579Met	rs768030666	missense variant	-	NC_000011.10:g.112217871C>G	ExAC,gnomAD
BCO2	Q9BYV7	p.Ile579Thr	rs759558199	missense variant	-	NC_000011.10:g.112217870T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Ter580Arg	rs753158849	stop lost	-	NC_000011.10:g.112217872T>C	ExAC,gnomAD
BCO2	Q9BYV7	p.Ter580Trp	rs900146348	stop lost	-	NC_000011.10:g.112217874A>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg2His	rs371007597	missense variant	-	NC_000017.11:g.2030159G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg2Cys	rs969706846	missense variant	-	NC_000017.11:g.2030158C>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg2Ser	rs969706846	missense variant	-	NC_000017.11:g.2030158C>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg3Trp	rs1167295298	missense variant	-	NC_000017.11:g.2030161A>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln4Arg	rs1262069920	missense variant	-	NC_000017.11:g.2030165A>G	TOPMed
DPH1	Q9BZG8	p.Gln4Glu	rs541900220	missense variant	-	NC_000017.11:g.2030164C>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Val5Leu	rs1458186644	missense variant	-	NC_000017.11:g.2030167G>T	gnomAD
DPH1	Q9BZG8	p.Met6Lys	rs757167361	missense variant	-	NC_000017.11:g.2030171T>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Met6Leu	rs749267261	missense variant	-	NC_000017.11:g.2030170A>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Met6Arg	rs757167361	missense variant	-	NC_000017.11:g.2030171T>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Met6Lys	rs757167361	missense variant	Developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH)	NC_000017.11:g.2030171T>A	UniProt,dbSNP
DPH1	Q9BZG8	p.Met6Lys	VAR_076412	missense variant	Developmental delay with short stature, dysmorphic features, and sparse hair (DEDSSH)	NC_000017.11:g.2030171T>A	UniProt
DPH1	Q9BZG8	p.Met6Thr	rs757167361	missense variant	-	NC_000017.11:g.2030171T>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala7Val	rs778705666	missense variant	-	NC_000017.11:g.2030174C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala7Val	rs778705666	missense variant	-	NC_000017.11:g.2030174C>T	UniProt,dbSNP
DPH1	Q9BZG8	p.Ala7Val	VAR_036702	missense variant	-	NC_000017.11:g.2030174C>T	UniProt
DPH1	Q9BZG8	p.Ala8Val	rs772341134	missense variant	-	NC_000017.11:g.2030177C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu9Met	rs1315794220	missense variant	-	NC_000017.11:g.2030179C>A	gnomAD
DPH1	Q9BZG8	p.Leu9Pro	rs1274606572	missense variant	-	NC_000017.11:g.2030180T>C	gnomAD
DPH1	Q9BZG8	p.Val10Asp	rs1259405214	missense variant	-	NC_000017.11:g.2030183T>A	gnomAD
DPH1	Q9BZG8	p.Val10Phe	rs775513728	missense variant	-	NC_000017.11:g.2030182G>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Val11Leu	rs1194951668	missense variant	-	NC_000017.11:g.2030185G>C	gnomAD
DPH1	Q9BZG8	p.Ser12Pro	rs571457784	missense variant	-	NC_000017.11:g.2030188T>C	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser12Cys	rs1474239148	missense variant	-	NC_000017.11:g.2030189C>G	gnomAD
DPH1	Q9BZG8	p.Gly13Arg	rs776821196	missense variant	-	NC_000017.11:g.2030191G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly13Glu	rs762458101	missense variant	-	NC_000017.11:g.2030192G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Gly13Arg	rs776821196	missense variant	-	NC_000017.11:g.2030191G>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala14Thr	rs773741408	missense variant	-	NC_000017.11:g.2030194G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala14Ser	rs773741408	missense variant	-	NC_000017.11:g.2030194G>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala15Val	rs754283257	missense variant	-	NC_000017.11:g.2030198C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu16Gly	rs1357496457	missense variant	-	NC_000017.11:g.2030201A>G	TOPMed
DPH1	Q9BZG8	p.Gln17Arg	rs375040102	missense variant	-	NC_000017.11:g.2030204A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln17His	rs1036777488	missense variant	-	NC_000017.11:g.2030205G>C	TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln17Ter	rs1285486074	stop gained	-	NC_000017.11:g.2030203C>T	gnomAD
DPH1	Q9BZG8	p.Gly18Ser	rs1304425280	missense variant	-	NC_000017.11:g.2030206G>A	gnomAD
DPH1	Q9BZG8	p.Gly19Cys	rs1217838504	missense variant	-	NC_000017.11:g.2030209G>T	gnomAD
DPH1	Q9BZG8	p.Arg20Gln	rs757704030	missense variant	-	NC_000017.11:g.2030213G>A	gnomAD
DPH1	Q9BZG8	p.Asp21Glu	rs376971506	missense variant	-	NC_000017.11:g.2030217C>A	ESP,TOPMed,gnomAD
DPH1	Q9BZG8	p.Asp21Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2030216A>G	NCI-TCGA
DPH1	Q9BZG8	p.Gly22Arg	rs1469813358	missense variant	-	NC_000017.11:g.2030218G>C	TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly22Ser	rs1469813358	missense variant	-	NC_000017.11:g.2030218G>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly24Asp	rs930717263	missense variant	-	NC_000017.11:g.2030225G>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg27Gln	rs200134501	missense variant	-	NC_000017.11:g.2033508G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg27Trp	rs753008362	missense variant	-	NC_000017.11:g.2033507C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala28Thr	rs749351056	missense variant	-	NC_000017.11:g.2033510G>A	ExAC
DPH1	Q9BZG8	p.Pro29Ser	rs1477831804	missense variant	-	NC_000017.11:g.2033513C>T	gnomAD
DPH1	Q9BZG8	p.Pro29Leu	rs757712058	missense variant	-	NC_000017.11:g.2033514C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg30Gln	rs746359258	missense variant	-	NC_000017.11:g.2033517G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg30Leu	rs746359258	missense variant	-	NC_000017.11:g.2033517G>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg30Trp	rs367898997	missense variant	-	NC_000017.11:g.2033516C>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly31Ala	rs1384620464	missense variant	-	NC_000017.11:g.2033520G>C	TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly31Val	rs1384620464	missense variant	-	NC_000017.11:g.2033520G>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly31Ser	rs772488684	missense variant	-	NC_000017.11:g.2033519G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Arg32Cys	rs775796897	missense variant	-	NC_000017.11:g.2033522C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg32Leu	rs1300534676	missense variant	-	NC_000017.11:g.2033523G>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg32His	rs1300534676	missense variant	-	NC_000017.11:g.2033523G>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Val33Met	rs769439688	missense variant	-	NC_000017.11:g.2033525G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala34Val	rs772628014	missense variant	-	NC_000017.11:g.2033529C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala34Thr	rs1291572300	missense variant	-	NC_000017.11:g.2033528G>A	gnomAD
DPH1	Q9BZG8	p.Ala34Asp	VAR_036703	Missense	-	-	UniProt
DPH1	Q9BZG8	p.Asn35Asp	rs762456641	missense variant	-	NC_000017.11:g.2033531A>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Asn35Tyr	rs762456641	missense variant	-	NC_000017.11:g.2033531A>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln36His	rs908733934	missense variant	-	NC_000017.11:g.2033536G>C	TOPMed,gnomAD
DPH1	Q9BZG8	p.Ile37Val	rs766239363	missense variant	-	NC_000017.11:g.2033537A>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Ile37Asn	rs1214203163	missense variant	-	NC_000017.11:g.2033538T>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro38Leu	rs745797930	missense variant	-	NC_000017.11:g.2033541C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro38Thr	rs1170509533	missense variant	-	NC_000017.11:g.2033540C>A	TOPMed
DPH1	Q9BZG8	p.Pro39Thr	rs944097537	missense variant	-	NC_000017.11:g.2033543C>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro39Ala	rs944097537	missense variant	-	NC_000017.11:g.2033543C>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu40Ter	NCI-TCGA novel	frameshift	-	NC_000017.11:g.2033538_2033539insC	NCI-TCGA
DPH1	Q9BZG8	p.Lys43Thr	rs181803178	missense variant	-	NC_000017.11:g.2033556A>C	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Lys43Asn	rs971764185	missense variant	-	NC_000017.11:g.2033557G>T	gnomAD
DPH1	Q9BZG8	p.Lys43Gln	rs1255107774	missense variant	-	NC_000017.11:g.2033555A>C	TOPMed
DPH1	Q9BZG8	p.Pro45Leu	rs1187745169	missense variant	-	NC_000017.11:g.2033562C>T	gnomAD
DPH1	Q9BZG8	p.Pro45Ala	rs767470182	missense variant	-	NC_000017.11:g.2033561C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Gln46Lys	rs186486757	missense variant	-	NC_000017.11:g.2033564C>A	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln48His	COSM976415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2033572G>T	NCI-TCGA Cosmic
DPH1	Q9BZG8	p.Ala50Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2033577C>T	NCI-TCGA
DPH1	Q9BZG8	p.Ile51Phe	rs758225925	missense variant	-	NC_000017.11:g.2033579A>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Ile51Val	rs758225925	missense variant	-	NC_000017.11:g.2033579A>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg52Gly	rs566200844	missense variant	-	NC_000017.11:g.2033582C>G	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg52Gln	rs202050177	missense variant	-	NC_000017.11:g.2033583G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg52Trp	rs566200844	missense variant	-	NC_000017.11:g.2033582C>T	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Asn57Ser	rs140382122	missense variant	-	NC_000017.11:g.2033598A>G	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Asn59Tyr	rs1404359429	missense variant	-	NC_000017.11:g.2033603A>T	gnomAD
DPH1	Q9BZG8	p.Ile62Val	rs746410604	missense variant	-	NC_000017.11:g.2033612A>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Thr65Ala	rs758877212	missense variant	-	NC_000017.11:g.2033621A>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ile66Thr	rs780417889	missense variant	-	NC_000017.11:g.2033625T>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Arg68Ser	COSM6080393	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2033632G>T	NCI-TCGA Cosmic
DPH1	Q9BZG8	p.Gln70Glu	rs1311244562	missense variant	-	NC_000017.11:g.2033636C>G	gnomAD
DPH1	Q9BZG8	p.Ala72Ser	rs769334106	missense variant	-	NC_000017.11:g.2033642G>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala72Thr	rs769334106	missense variant	-	NC_000017.11:g.2033642G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala74Val	rs931835027	missense variant	-	NC_000017.11:g.2033649C>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Lys75Glu	rs777425510	missense variant	-	NC_000017.11:g.2033651A>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Lys75Asn	rs748890388	missense variant	-	NC_000017.11:g.2033653G>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Lys76Thr	rs1422329131	missense variant	-	NC_000017.11:g.2033655A>C	TOPMed
DPH1	Q9BZG8	p.Lys76Asn	rs1249345630	missense variant	-	NC_000017.11:g.2033656G>C	TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala78Val	rs1467251634	missense variant	-	NC_000017.11:g.2033782C>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala78Gly	rs1467251634	missense variant	-	NC_000017.11:g.2033782C>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu79Phe	rs745315997	missense variant	-	NC_000017.11:g.2033786G>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Gln80Glu	rs376646460	missense variant	-	NC_000017.11:g.2033787C>G	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln80Ter	rs376646460	stop gained	-	NC_000017.11:g.2033787C>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Met81Ile	rs760522373	missense variant	-	NC_000017.11:g.2033792G>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Met81Ile	rs760522373	missense variant	-	NC_000017.11:g.2033792G>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro82Leu	rs776264126	missense variant	-	NC_000017.11:g.2033794C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro82Gln	rs776264126	missense variant	-	NC_000017.11:g.2033794C>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu86Phe	rs750506695	missense variant	-	NC_000017.11:g.2033805C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu87Val	rs762961272	missense variant	-	NC_000017.11:g.2033808C>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Thr91Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2033821C>T	NCI-TCGA
DPH1	Q9BZG8	p.Asp94Gly	rs1285524776	missense variant	-	NC_000017.11:g.2033830A>G	TOPMed
DPH1	Q9BZG8	p.Ile95Val	rs377576085	missense variant	-	NC_000017.11:g.2033832A>G	ESP,TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu97Gly	rs562021738	missense variant	-	NC_000017.11:g.2033839A>G	1000Genomes
DPH1	Q9BZG8	p.Arg98Thr	rs766432888	missense variant	-	NC_000017.11:g.2033842G>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Thr100Met	rs750137688	missense variant	-	NC_000017.11:g.2035975C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala102Thr	rs1187226519	missense variant	-	NC_000017.11:g.2035980G>A	TOPMed
DPH1	Q9BZG8	p.Glu103Lys	rs746459215	missense variant	-	NC_000017.11:g.2035983G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Val104Gly	rs201053980	missense variant	-	NC_000017.11:g.2035987T>G	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Val106Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2035992G>T	NCI-TCGA
DPH1	Q9BZG8	p.Val106Met	rs780933620	missense variant	-	NC_000017.11:g.2035992G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Met107Lys	rs1298270053	missense variant	-	NC_000017.11:g.2035996T>A	gnomAD
DPH1	Q9BZG8	p.Asp109His	rs1358004644	missense variant	-	NC_000017.11:g.2036001G>C	gnomAD
DPH1	Q9BZG8	p.Val110Met	rs769642605	missense variant	-	NC_000017.11:g.2036004G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Tyr112Cys	rs772969956	missense variant	-	NC_000017.11:g.2036011A>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Gly113Arg	rs1356461308	missense variant	-	NC_000017.11:g.2036013G>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Val117Leu	COSM122688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2036025G>T	NCI-TCGA Cosmic
DPH1	Q9BZG8	p.Asp119Val	rs1310470027	missense variant	-	NC_000017.11:g.2036032A>T	gnomAD
DPH1	Q9BZG8	p.Asp119Asn	rs565122512	missense variant	-	NC_000017.11:g.2036031G>A	1000Genomes,ExAC,gnomAD
DPH1	Q9BZG8	p.Ala122Val	rs373595133	missense variant	-	NC_000017.11:g.2036041C>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg123Thr	rs767626210	missense variant	-	NC_000017.11:g.2036044G>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala124Pro	rs372069295	missense variant	-	NC_000017.11:g.2036046G>C	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala124Thr	rs372069295	missense variant	-	NC_000017.11:g.2036046G>A	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala124Ser	rs372069295	missense variant	-	NC_000017.11:g.2036046G>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu125Pro	rs200530055	missense variant	-	NC_000017.11:g.2036050T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala127Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2036055G>T	NCI-TCGA
DPH1	Q9BZG8	p.Asp128Asn	rs1424399161	missense variant	-	NC_000017.11:g.2036058G>A	gnomAD
DPH1	Q9BZG8	p.Phe129Cys	rs764599628	missense variant	-	NC_000017.11:g.2036062T>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu130Phe	rs544502349	missense variant	-	NC_000017.11:g.2036066G>T	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu130Trp	rs371906435	missense variant	-	NC_000017.11:g.2036065T>G	ESP,ExAC,gnomAD
DPH1	Q9BZG8	p.Leu130Phe	rs544502349	missense variant	-	NC_000017.11:g.2036066G>C	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Val131Gly	rs1328883333	missense variant	-	NC_000017.11:g.2036068T>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Val131Met	rs1445671185	missense variant	-	NC_000017.11:g.2036067G>A	gnomAD
DPH1	Q9BZG8	p.His132Arg	rs1379509207	missense variant	-	NC_000017.11:g.2036071A>G	gnomAD
DPH1	Q9BZG8	p.His132Pro	rs1379509207	missense variant	-	NC_000017.11:g.2036071A>C	gnomAD
DPH1	Q9BZG8	p.Gly134Ser	rs746715446	missense variant	-	NC_000017.11:g.2036076G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly134Asp	rs1220991810	missense variant	-	NC_000017.11:g.2036077G>A	gnomAD
DPH1	Q9BZG8	p.Ser136Arg	rs780748075	missense variant	-	NC_000017.11:g.2036082A>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Cys137Phe	rs752616074	missense variant	-	NC_000017.11:g.2036086G>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu138Pro	rs1260250895	missense variant	-	NC_000017.11:g.2036089T>C	TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro140Ala	rs1443835714	missense variant	-	NC_000017.11:g.2036531C>G	gnomAD
DPH1	Q9BZG8	p.Pro140Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2036532C>T	NCI-TCGA
DPH1	Q9BZG8	p.Met141Thr	rs375634576	missense variant	-	NC_000017.11:g.2036535T>C	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Asp142Gly	rs1237883882	missense variant	-	NC_000017.11:g.2036538A>G	gnomAD
DPH1	Q9BZG8	p.Ser144Leu	rs780362870	missense variant	-	NC_000017.11:g.2036544C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln146Ter	rs1170946538	stop gained	-	NC_000017.11:g.2036549C>T	gnomAD
DPH1	Q9BZG8	p.Asp147Glu	rs755173746	missense variant	-	NC_000017.11:g.2036554C>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Phe148Leu	rs1039354525	missense variant	-	NC_000017.11:g.2036557C>G	TOPMed
DPH1	Q9BZG8	p.Phe148Cys	rs1277992934	missense variant	-	NC_000017.11:g.2036556T>G	gnomAD
DPH1	Q9BZG8	p.Arg149Gln	rs202044246	missense variant	-	NC_000017.11:g.2036559G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg149Trp	rs201399054	missense variant	-	NC_000017.11:g.2036558C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Tyr152Cys	rs1444331682	missense variant	-	NC_000017.11:g.2036568A>G	gnomAD
DPH1	Q9BZG8	p.Val153Ile	rs1022631968	missense variant	-	NC_000017.11:g.2036570G>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Val155Met	rs1336318320	missense variant	-	NC_000017.11:g.2036576G>A	gnomAD
DPH1	Q9BZG8	p.Ile157Thr	rs770297106	missense variant	-	NC_000017.11:g.2036583T>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Arg158Gln	rs749610533	missense variant	-	NC_000017.11:g.2036586G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg158Gly	rs773453810	missense variant	-	NC_000017.11:g.2036585C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Arg158Trp	rs773453810	missense variant	-	NC_000017.11:g.2036585C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Ile159Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2036589T>C	NCI-TCGA
DPH1	Q9BZG8	p.Thr161Ile	rs1456020025	missense variant	-	NC_000017.11:g.2036595C>T	gnomAD
DPH1	Q9BZG8	p.Thr161Pro	rs1253049535	missense variant	-	NC_000017.11:g.2036594A>C	gnomAD
DPH1	Q9BZG8	p.Thr162Ala	rs1162708861	missense variant	-	NC_000017.11:g.2036597A>G	TOPMed
DPH1	Q9BZG8	p.Thr162Ile	rs116911386	missense variant	-	NC_000017.11:g.2036598C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.His163Tyr	rs1418382474	missense variant	-	NC_000017.11:g.2036600C>T	TOPMed
DPH1	Q9BZG8	p.Leu164Phe	rs1394874389	missense variant	-	NC_000017.11:g.2036603C>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Asp166His	rs544360782	missense variant	-	NC_000017.11:g.2036609G>C	1000Genomes,ExAC,gnomAD
DPH1	Q9BZG8	p.Ser167Phe	rs1451144327	missense variant	-	NC_000017.11:g.2036613C>T	TOPMed
DPH1	Q9BZG8	p.Arg169His	rs761683075	missense variant	-	NC_000017.11:g.2036619G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg169Cys	rs776074424	missense variant	-	NC_000017.11:g.2036618C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu170Phe	COSM3515044	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2036621C>T	NCI-TCGA Cosmic
DPH1	Q9BZG8	p.Thr171Pro	rs765151022	missense variant	-	NC_000017.11:g.2036624A>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Thr171Ala	rs765151022	missense variant	-	NC_000017.11:g.2036624A>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala175Val	rs766270807	missense variant	-	NC_000017.11:g.2036637C>T	ExAC
DPH1	Q9BZG8	p.Ala177Val	rs1016372873	missense variant	-	NC_000017.11:g.2036643C>T	TOPMed
DPH1	Q9BZG8	p.Leu178Phe	rs755228920	missense variant	-	NC_000017.11:g.2036645C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala179Thr	rs781444004	missense variant	-	NC_000017.11:g.2036648G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Ser182Gly	rs756592857	missense variant	-	NC_000017.11:g.2036657A>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser182Arg	rs756592857	missense variant	-	NC_000017.11:g.2036657A>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ile184Val	rs749756099	missense variant	-	NC_000017.11:g.2036663A>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln185Arg	rs771328431	missense variant	-	NC_000017.11:g.2036667A>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Thr189Ile	rs1252328972	missense variant	-	NC_000017.11:g.2036679C>T	gnomAD
DPH1	Q9BZG8	p.Gln191Ter	rs746690628	stop gained	-	NC_000017.11:g.2036684C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala193Pro	rs1239986247	missense variant	-	NC_000017.11:g.2036838G>C	gnomAD
DPH1	Q9BZG8	p.Ala193Ser	rs1239986247	missense variant	-	NC_000017.11:g.2036838G>T	gnomAD
DPH1	Q9BZG8	p.Ala193Val	rs774301723	missense variant	-	NC_000017.11:g.2036839C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala194Ser	rs767417481	missense variant	-	NC_000017.11:g.2036841G>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala194Thr	rs767417481	missense variant	-	NC_000017.11:g.2036841G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu197Arg	rs1482434553	missense variant	-	NC_000017.11:g.2036851T>G	gnomAD
DPH1	Q9BZG8	p.Glu200Lys	rs757770038	missense variant	-	NC_000017.11:g.2036859G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg202Cys	rs200118205	missense variant	-	NC_000017.11:g.2036865C>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg202His	rs750913192	missense variant	-	NC_000017.11:g.2036866G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Gln207Ter	rs1212799600	stop gained	-	NC_000017.11:g.2036880C>T	TOPMed
DPH1	Q9BZG8	p.Cys208Ter	rs1270597916	stop gained	-	NC_000017.11:g.2036885C>A	TOPMed
DPH1	Q9BZG8	p.Pro213Ala	rs373361726	missense variant	-	NC_000017.11:g.2036898C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro213Leu	rs1358202828	missense variant	-	NC_000017.11:g.2036899C>T	gnomAD
DPH1	Q9BZG8	p.Pro213Ser	rs373361726	missense variant	-	NC_000017.11:g.2036898C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly214Val	rs780248962	missense variant	-	NC_000017.11:g.2036902G>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Gly214Glu	rs780248962	missense variant	-	NC_000017.11:g.2036902G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Thr220Ile	rs993587773	missense variant	-	NC_000017.11:g.2036920C>T	TOPMed
DPH1	Q9BZG8	p.Ser221Pro	rs769281060	missense variant	-	NC_000017.11:g.2036922T>C	ExAC
DPH1	Q9BZG8	p.Pro222His	rs777373716	missense variant	-	NC_000017.11:g.2036926C>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg223Gly	rs1185902827	missense variant	-	NC_000017.11:g.2036928C>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg223Gln	rs201266276	missense variant	-	NC_000017.11:g.2036929G>A	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg223Pro	rs201266276	missense variant	-	NC_000017.11:g.2036929G>C	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg223Ter	rs1185902827	stop gained	-	NC_000017.11:g.2036928C>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Lys226Arg	rs1131600	missense variant	-	NC_000017.11:g.2036938A>G	UniProt,dbSNP
DPH1	Q9BZG8	p.Lys226Arg	VAR_055706	missense variant	-	NC_000017.11:g.2036938A>G	UniProt
DPH1	Q9BZG8	p.Lys226Arg	rs1131600	missense variant	-	NC_000017.11:g.2036938A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Lys226Glu	rs1474450764	missense variant	-	NC_000017.11:g.2036937A>G	TOPMed
DPH1	Q9BZG8	p.Lys226Thr	rs1131600	missense variant	-	NC_000017.11:g.2036938A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu227Asp	rs1212443230	missense variant	-	NC_000017.11:g.2036942G>C	gnomAD
DPH1	Q9BZG8	p.Glu229Lys	rs771954738	missense variant	-	NC_000017.11:g.2036946G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala230Thr	rs1197819341	missense variant	-	NC_000017.11:g.2036949G>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala230Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2036950C>T	NCI-TCGA
DPH1	Q9BZG8	p.Val231Ile	rs200008890	missense variant	-	NC_000017.11:g.2036952G>A	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Val232Met	rs1177268476	missense variant	-	NC_000017.11:g.2036955G>A	gnomAD
DPH1	Q9BZG8	p.Leu234Pro	rs730882250	missense variant	-	NC_000017.11:g.2039760T>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu234Ile	rs775363797	missense variant	-	NC_000017.11:g.2039759C>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu234Arg	rs730882250	missense variant	-	NC_000017.11:g.2039760T>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Asp236Glu	rs768480996	missense variant	-	NC_000017.11:g.2039767T>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly237Ser	rs1422021128	missense variant	-	NC_000017.11:g.2039768G>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg238His	rs541454915	missense variant	-	NC_000017.11:g.2039772G>A	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg238Cys	rs948891689	missense variant	-	NC_000017.11:g.2039771C>T	gnomAD
DPH1	Q9BZG8	p.Arg238Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2039771C>A	NCI-TCGA
DPH1	Q9BZG8	p.Phe239Leu	rs761990254	missense variant	-	NC_000017.11:g.2039776C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.His240Arg	rs765348233	missense variant	-	NC_000017.11:g.2039778A>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu241Val	rs773227112	missense variant	-	NC_000017.11:g.2039780C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Met245Val	rs1188955034	missense variant	-	NC_000017.11:g.2039792A>G	gnomAD
DPH1	Q9BZG8	p.Met245Thr	rs763545692	missense variant	-	NC_000017.11:g.2039793T>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Ile246Phe	rs766728635	missense variant	-	NC_000017.11:g.2039795A>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro249Arg	rs80150196	missense variant	-	NC_000017.11:g.2039805C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Asn250Ser	rs368142873	missense variant	-	NC_000017.11:g.2039808A>G	ESP,ExAC,gnomAD
DPH1	Q9BZG8	p.Asn250His	rs373680734	missense variant	-	NC_000017.11:g.2039807A>C	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Val251Ile	rs201609069	missense variant	-	NC_000017.11:g.2039810G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala253Ser	rs371816907	missense variant	-	NC_000017.11:g.2039816G>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala253Thr	rs371816907	missense variant	-	NC_000017.11:g.2039816G>A	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg255Trp	rs746958259	missense variant	-	NC_000017.11:g.2039822C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg255Gln	rs756883293	missense variant	-	NC_000017.11:g.2039823G>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Asp257Asn	rs376149801	missense variant	-	NC_000017.11:g.2040222G>A	1000Genomes,ESP,ExAC,gnomAD
DPH1	Q9BZG8	p.Tyr259Ser	rs772642973	missense variant	-	NC_000017.11:g.2040229A>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Ser260Gly	rs200693145	missense variant	-	NC_000017.11:g.2040231A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser264Phe	rs761184411	missense variant	-	NC_000017.11:g.2040244C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg265Thr	rs1489989945	missense variant	-	NC_000017.11:g.2040247G>C	TOPMed
DPH1	Q9BZG8	p.His267Gln	rs750079556	missense variant	-	NC_000017.11:g.2040254C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.His267Tyr	rs764544562	missense variant	-	NC_000017.11:g.2040252C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.His267Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2040253A>C	NCI-TCGA
DPH1	Q9BZG8	p.Tyr268Cys	rs1350431682	missense variant	-	NC_000017.11:g.2040256A>G	gnomAD
DPH1	Q9BZG8	p.His270Asp	rs961569165	missense variant	-	NC_000017.11:g.2040261C>G	TOPMed
DPH1	Q9BZG8	p.His270Tyr	rs961569165	missense variant	-	NC_000017.11:g.2040261C>T	TOPMed
DPH1	Q9BZG8	p.Gln271His	rs751038673	missense variant	-	NC_000017.11:g.2040266G>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Gln271Arg	rs142800357	missense variant	-	NC_000017.11:g.2040265A>G	1000Genomes,ExAC,gnomAD
DPH1	Q9BZG8	p.Arg272Gly	rs754912345	missense variant	-	NC_000017.11:g.2040267C>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg272Cys	rs754912345	missense variant	-	NC_000017.11:g.2040267C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg272Pro	rs1184605738	missense variant	-	NC_000017.11:g.2040268G>C	gnomAD
DPH1	Q9BZG8	p.Arg272His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2040268G>A	NCI-TCGA
DPH1	Q9BZG8	p.Met273Thr	rs1316762005	missense variant	-	NC_000017.11:g.2040271T>C	TOPMed
DPH1	Q9BZG8	p.Gln274Glu	rs781049218	missense variant	-	NC_000017.11:g.2040273C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Gln274His	rs752617255	missense variant	-	NC_000017.11:g.2040275G>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala275Ser	rs1170993707	missense variant	-	NC_000017.11:g.2040276G>T	gnomAD
DPH1	Q9BZG8	p.Ala276Ser	rs755943395	missense variant	-	NC_000017.11:g.2040279G>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Arg277Cys	rs777523242	missense variant	-	NC_000017.11:g.2040282C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg277His	rs373627981	missense variant	-	NC_000017.11:g.2040283G>A	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln278Ter	rs920180071	stop gained	-	NC_000017.11:g.2040285C>T	TOPMed
DPH1	Q9BZG8	p.Glu279Lys	rs771147345	missense variant	-	NC_000017.11:g.2040288G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Glu279Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.2040288G>T	NCI-TCGA
DPH1	Q9BZG8	p.Ala280Thr	rs1403822856	missense variant	-	NC_000017.11:g.2040291G>A	TOPMed
DPH1	Q9BZG8	p.Ile281Thr	rs1389539357	missense variant	-	NC_000017.11:g.2040295T>C	gnomAD
DPH1	Q9BZG8	p.Ile281Val	rs1484851538	missense variant	-	NC_000017.11:g.2040294A>G	gnomAD
DPH1	Q9BZG8	p.Ala282Val	rs778865858	missense variant	-	NC_000017.11:g.2040298C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala282Gly	rs778865858	missense variant	-	NC_000017.11:g.2040298C>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala284Val	rs1231931920	missense variant	-	NC_000017.11:g.2040304C>T	gnomAD
DPH1	Q9BZG8	p.Ala284Thr	rs201377046	missense variant	-	NC_000017.11:g.2040303G>A	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg285Leu	rs187721672	missense variant	-	NC_000017.11:g.2040307G>T	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg285His	rs187721672	missense variant	-	NC_000017.11:g.2040307G>A	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg285Cys	rs772268457	missense variant	-	NC_000017.11:g.2040306C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg285Ser	rs772268457	missense variant	-	NC_000017.11:g.2040306C>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala287Ser	rs199982638	missense variant	-	NC_000017.11:g.2040312G>T	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Lys288Thr	rs1402629649	missense variant	-	NC_000017.11:g.2040316A>C	TOPMed
DPH1	Q9BZG8	p.Lys288Glu	rs879028374	missense variant	-	NC_000017.11:g.2040315A>G	-
DPH1	Q9BZG8	p.Ser289Tyr	rs1251903911	missense variant	-	NC_000017.11:g.2040319C>A	gnomAD
DPH1	Q9BZG8	p.Ser289Phe	COSM3515046	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.2040319C>T	NCI-TCGA Cosmic
DPH1	Q9BZG8	p.Trp290Arg	rs1361949073	missense variant	-	NC_000017.11:g.2040321T>C	gnomAD
DPH1	Q9BZG8	p.Gly291Cys	rs777008232	missense variant	-	NC_000017.11:g.2040324G>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu294Val	rs765991972	missense variant	-	NC_000017.11:g.2040333C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Gly295Cys	rs1175776806	missense variant	-	NC_000017.11:g.2040336G>T	TOPMed
DPH1	Q9BZG8	p.Gly295Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2040337G>A	NCI-TCGA
DPH1	Q9BZG8	p.Thr296Ser	rs766983322	missense variant	-	NC_000017.11:g.2040339A>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu297Val	rs1271671967	missense variant	-	NC_000017.11:g.2040342T>G	TOPMed
DPH1	Q9BZG8	p.Leu297Ser	rs752680359	missense variant	-	NC_000017.11:g.2040343T>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu297Phe	rs1385721178	missense variant	-	NC_000017.11:g.2040344G>T	gnomAD
DPH1	Q9BZG8	p.Arg299Leu	rs201983229	missense variant	-	NC_000017.11:g.2040349G>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg299Cys	rs1300818097	missense variant	-	NC_000017.11:g.2040348C>T	gnomAD
DPH1	Q9BZG8	p.Arg299His	rs201983229	missense variant	-	NC_000017.11:g.2040349G>A	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser302Thr	rs1377046363	missense variant	-	NC_000017.11:g.2040358G>C	gnomAD
DPH1	Q9BZG8	p.Pro303Ser	rs1405115549	missense variant	-	NC_000017.11:g.2040360C>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Ile305Leu	rs1318295336	missense variant	-	NC_000017.11:g.2040366A>C	TOPMed
DPH1	Q9BZG8	p.Arg312Ter	rs371066962	stop gained	-	NC_000017.11:g.2040517C>T	ESP,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg312Gln	rs764906514	missense variant	-	NC_000017.11:g.2040518G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Arg314Ter	rs750726709	stop gained	-	NC_000017.11:g.2040523C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg314Gln	rs61757361	missense variant	-	NC_000017.11:g.2040524G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu316Val	rs990620472	missense variant	-	NC_000017.11:g.2040529T>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu316Phe	rs201891404	missense variant	-	NC_000017.11:g.2040531G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly317Ser	rs755455275	missense variant	-	NC_000017.11:g.2040532G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Ser319Phe	rs781752622	missense variant	-	NC_000017.11:g.2040539C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser319Cys	rs781752622	missense variant	-	NC_000017.11:g.2040539C>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Val321Leu	rs199664244	missense variant	-	NC_000017.11:g.2040544G>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg322Met	rs745550380	missense variant	-	NC_000017.11:g.2040548G>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu325Val	rs1255660855	missense variant	-	NC_000017.11:g.2040556C>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu327Gln	rs200849211	missense variant	-	NC_000017.11:g.2040562G>C	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Phe329Leu	rs760232816	missense variant	-	NC_000017.11:g.2040570C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro330Arg	rs1257899654	missense variant	-	NC_000017.11:g.2040572C>G	TOPMed
DPH1	Q9BZG8	p.Ser334Arg	rs768044127	missense variant	-	NC_000017.11:g.2040585C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu335Val	rs35394823	missense variant	-	NC_000017.11:g.2040586C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro337His	rs1405094341	missense variant	-	NC_000017.11:g.2040593C>A	gnomAD
DPH1	Q9BZG8	p.Pro337Ala	rs761637932	missense variant	-	NC_000017.11:g.2040592C>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu338Lys	rs375530492	missense variant	-	NC_000017.11:g.2040595G>A	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu338Val	rs1049924857	missense variant	-	NC_000017.11:g.2040596A>T	TOPMed
DPH1	Q9BZG8	p.Val339Met	rs565199226	missense variant	-	NC_000017.11:g.2040598G>A	1000Genomes,ExAC,gnomAD
DPH1	Q9BZG8	p.Val339Glu	rs1468544871	missense variant	-	NC_000017.11:g.2040599T>A	gnomAD
DPH1	Q9BZG8	p.Val341Leu	rs766652021	missense variant	-	NC_000017.11:g.2040604G>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Gln344Ter	rs375928860	stop gained	-	NC_000017.11:g.2041110C>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala346Val	rs1410951723	missense variant	-	NC_000017.11:g.2041117C>T	gnomAD
DPH1	Q9BZG8	p.Ala346Thr	rs773156519	missense variant	-	NC_000017.11:g.2041116G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Cys347Arg	rs368892850	missense variant	-	NC_000017.11:g.2041119T>C	ESP
DPH1	Q9BZG8	p.Pro348Ser	rs762901546	missense variant	-	NC_000017.11:g.2041122C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro348Thr	rs762901546	missense variant	-	NC_000017.11:g.2041122C>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Leu350His	rs1426663085	missense variant	-	NC_000017.11:g.2041129T>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Leu350Pro	rs1426663085	missense variant	-	NC_000017.11:g.2041129T>C	TOPMed,gnomAD
DPH1	Q9BZG8	p.Ile352Thr	rs766272832	missense variant	-	NC_000017.11:g.2041135T>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ile352Val	rs1326123384	missense variant	-	NC_000017.11:g.2041134A>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Trp354Ter	rs1268269711	stop gained	-	NC_000017.11:g.2041141G>A	gnomAD
DPH1	Q9BZG8	p.Trp354Cys	rs751871471	missense variant	-	NC_000017.11:g.2041142G>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Gly355Asp	rs1369283730	missense variant	-	NC_000017.11:g.2041144G>A	gnomAD
DPH1	Q9BZG8	p.Gly355Ser	rs750030837	missense variant	-	NC_000017.11:g.2041143G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Thr356Ile	rs767665310	missense variant	-	NC_000017.11:g.2041147C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala357Thr	rs985735275	missense variant	-	NC_000017.11:g.2041149G>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala357Ser	rs985735275	missense variant	-	NC_000017.11:g.2041149G>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Phe358Tyr	rs911392161	missense variant	-	NC_000017.11:g.2041153T>A	TOPMed
DPH1	Q9BZG8	p.Pro359Ala	rs1244140975	missense variant	-	NC_000017.11:g.2041155C>G	gnomAD
DPH1	Q9BZG8	p.Pro359Leu	rs764640116	missense variant	-	NC_000017.11:g.2041156C>T	ExAC,TOPMed
DPH1	Q9BZG8	p.Pro359His	rs764640116	missense variant	-	NC_000017.11:g.2041156C>A	ExAC,TOPMed
DPH1	Q9BZG8	p.Pro361Arg	rs1183479654	missense variant	-	NC_000017.11:g.2041162C>G	gnomAD
DPH1	Q9BZG8	p.Pro361Gln	rs1183479654	missense variant	-	NC_000017.11:g.2041162C>A	gnomAD
DPH1	Q9BZG8	p.Pro365Ser	rs946831949	missense variant	-	NC_000017.11:g.2041173C>T	TOPMed
DPH1	Q9BZG8	p.Tyr366Cys	rs377571866	missense variant	-	NC_000017.11:g.2041177A>G	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu367Lys	rs779223248	missense variant	-	NC_000017.11:g.2041179G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala368Val	rs200205951	missense variant	-	NC_000017.11:g.2041482C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala369Val	rs774207534	missense variant	-	NC_000017.11:g.2041485C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Val370Met	rs200231675	missense variant	-	NC_000017.11:g.2041487G>A	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Val370Ala	rs1426878947	missense variant	-	NC_000017.11:g.2041488T>C	gnomAD
DPH1	Q9BZG8	p.Val370Leu	rs200231675	missense variant	-	NC_000017.11:g.2041487G>C	1000Genomes,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala371Val	rs1173062014	missense variant	-	NC_000017.11:g.2041491C>T	gnomAD
DPH1	Q9BZG8	p.Asp374Tyr	rs1330385795	missense variant	-	NC_000017.11:g.2041499G>T	gnomAD
DPH1	Q9BZG8	p.Ile375Leu	rs775611935	missense variant	-	NC_000017.11:g.2041502A>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser376Tyr	rs376712518	missense variant	-	NC_000017.11:g.2041506C>A	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser376Thr	rs1249583285	missense variant	-	NC_000017.11:g.2041505T>A	TOPMed
DPH1	Q9BZG8	p.Ser376Phe	rs376712518	missense variant	-	NC_000017.11:g.2041506C>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln378Arg	rs764177982	missense variant	-	NC_000017.11:g.2041512A>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Gln379His	rs762316174	missense variant	-	NC_000017.11:g.2041516G>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln379Arg	rs776656445	missense variant	-	NC_000017.11:g.2041515A>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Gln379Leu	rs776656445	missense variant	-	NC_000017.11:g.2041515A>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro380Arg	rs1251232140	missense variant	-	NC_000017.11:g.2041518C>G	gnomAD
DPH1	Q9BZG8	p.Pro382Gln	rs567642658	missense variant	-	NC_000017.11:g.2041524C>A	1000Genomes,ExAC,gnomAD
DPH1	Q9BZG8	p.Pro382Leu	rs567642658	missense variant	-	NC_000017.11:g.2041524C>T	1000Genomes,ExAC,gnomAD
DPH1	Q9BZG8	p.Pro382Ser	rs765677788	missense variant	-	NC_000017.11:g.2041523C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Met383Ile	rs766737127	missense variant	-	NC_000017.11:g.2041528G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Met383Thr	rs897681123	missense variant	-	NC_000017.11:g.2041527T>C	TOPMed,gnomAD
DPH1	Q9BZG8	p.Asp384Ala	rs752342224	missense variant	-	NC_000017.11:g.2041530A>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Phe385Tyr	rs1199383902	missense variant	-	NC_000017.11:g.2041533T>A	gnomAD
DPH1	Q9BZG8	p.Phe385Leu	rs1372425833	missense variant	-	NC_000017.11:g.2041534C>A	gnomAD
DPH1	Q9BZG8	p.Tyr386Ter	rs1051547513	stop gained	-	NC_000017.11:g.2041537C>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Tyr386His	rs536213032	missense variant	-	NC_000017.11:g.2041535T>C	1000Genomes,TOPMed
DPH1	Q9BZG8	p.Ala387Val	rs777425338	missense variant	-	NC_000017.11:g.2041539C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Ser389Thr	rs374664554	missense variant	-	NC_000017.11:g.2041545G>C	ESP,TOPMed
DPH1	Q9BZG8	p.Ser389Arg	VAR_036705	Missense	-	-	UniProt
DPH1	Q9BZG8	p.Leu391Met	rs1300879082	missense variant	-	NC_000017.11:g.2041550T>A	TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro393Ser	rs1161857912	missense variant	-	NC_000017.11:g.2041556C>T	TOPMed
DPH1	Q9BZG8	p.Thr395Met	rs778119971	missense variant	-	NC_000017.11:g.2041563C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Thr395Ala	rs1422296759	missense variant	-	NC_000017.11:g.2041562A>G	gnomAD
DPH1	Q9BZG8	p.Asn397Lys	rs202219075	missense variant	-	NC_000017.11:g.2041570C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Asn397Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.2041567_2041568insTAGTTTGTTTTTTTTTCTTTTTTTTTGGAGAC	NCI-TCGA
DPH1	Q9BZG8	p.His398Tyr	rs768803619	missense variant	-	NC_000017.11:g.2041571C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Gly399AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.2041574_2041575insCCTCACCT	NCI-TCGA
DPH1	Q9BZG8	p.Gln400ProPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.2041576_2041577insCCTGGTTGATGTTGATGCTGTT	NCI-TCGA
DPH1	Q9BZG8	p.Gln400Ter	rs200625064	stop gained	-	NC_000017.11:g.2041577C>T	ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Asp401Gly	rs1001146133	missense variant	-	NC_000017.11:g.2041581A>G	TOPMed
DPH1	Q9BZG8	p.Arg402His	rs1294206597	missense variant	-	NC_000017.11:g.2041584G>A	gnomAD
DPH1	Q9BZG8	p.Arg403Cys	rs1483346435	missense variant	-	NC_000017.11:g.2041586C>T	TOPMed
DPH1	Q9BZG8	p.Pro404Ser	rs769916851	missense variant	-	NC_000017.11:g.2041589C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro404Thr	rs769916851	missense variant	-	NC_000017.11:g.2041589C>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.His405Gln	rs1260709072	missense variant	-	NC_000017.11:g.2041594C>G	gnomAD
DPH1	Q9BZG8	p.Ala406Thr	rs763496424	missense variant	-	NC_000017.11:g.2041595G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Arg409Gln	rs572975405	missense variant	-	NC_000017.11:g.2041605G>A	1000Genomes,ExAC,gnomAD
DPH1	Q9BZG8	p.Arg409Trp	rs1002207231	missense variant	-	NC_000017.11:g.2041604C>T	TOPMed,gnomAD
DPH1	Q9BZG8	p.Arg412Gln	rs760417466	missense variant	-	NC_000017.11:g.2041614G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Gly413Val	rs1327090813	missense variant	-	NC_000017.11:g.2041617G>T	TOPMed
DPH1	Q9BZG8	p.Gly413Arg	rs753535025	missense variant	-	NC_000017.11:g.2041616G>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Gly413Arg	rs753535025	missense variant	-	NC_000017.11:g.2041616G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Gln416Arg	rs1007345223	missense variant	-	NC_000017.11:g.2041772A>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln416Pro	rs1007345223	missense variant	-	NC_000017.11:g.2041772A>C	TOPMed,gnomAD
DPH1	Q9BZG8	p.Gln416Ter	rs762593458	stop gained	-	NC_000017.11:g.2041771C>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly418Glu	rs765847438	missense variant	-	NC_000017.11:g.2041778G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Gly418Arg	rs1042724914	missense variant	-	NC_000017.11:g.2041777G>A	TOPMed
DPH1	Q9BZG8	p.Ser419Phe	rs1405358134	missense variant	-	NC_000017.11:g.2041781C>T	gnomAD
DPH1	Q9BZG8	p.Ser419Ala	rs751549030	missense variant	-	NC_000017.11:g.2041780T>G	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser419Pro	rs751549030	missense variant	-	NC_000017.11:g.2041780T>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala420Val	rs767331162	missense variant	-	NC_000017.11:g.2041784C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro422His	rs778124126	missense variant	-	NC_000017.11:g.2041790C>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro422Thr	rs368312190	missense variant	-	NC_000017.11:g.2041789C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Pro423Ala	rs749437432	missense variant	-	NC_000017.11:g.2041792C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro423Ser	rs749437432	missense variant	-	NC_000017.11:g.2041792C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro423Arg	rs779083589	missense variant	-	NC_000017.11:g.2041793C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Ser424Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2041796C>G	NCI-TCGA
DPH1	Q9BZG8	p.Ala425Thr	rs746403643	missense variant	-	NC_000017.11:g.2041798G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala425Ser	rs746403643	missense variant	-	NC_000017.11:g.2041798G>T	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ala425Gly	rs772638526	missense variant	-	NC_000017.11:g.2041799C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Val426Ala	rs1383468095	missense variant	-	NC_000017.11:g.2041802T>C	gnomAD
DPH1	Q9BZG8	p.Val426Met	rs1355657769	missense variant	-	NC_000017.11:g.2041801G>A	gnomAD
DPH1	Q9BZG8	p.Ala427Val	rs768900656	missense variant	-	NC_000017.11:g.2041805C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Cys428Arg	rs768567235	missense variant	-	NC_000017.11:g.2041807T>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Cys428Ser	rs993626715	missense variant	-	NC_000017.11:g.2041808G>C	gnomAD
DPH1	Q9BZG8	p.Cys428Trp	rs762494381	missense variant	-	NC_000017.11:g.2041809C>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Cys428Tyr	rs993626715	missense variant	-	NC_000017.11:g.2041808G>A	gnomAD
DPH1	Q9BZG8	p.Cys428Gly	rs768567235	missense variant	-	NC_000017.11:g.2041807T>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Cys428Phe	rs993626715	missense variant	-	NC_000017.11:g.2041808G>T	gnomAD
DPH1	Q9BZG8	p.Asp430Asn	rs1367342828	missense variant	-	NC_000017.11:g.2041813G>A	gnomAD
DPH1	Q9BZG8	p.Asp430Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2041813G>T	NCI-TCGA
DPH1	Q9BZG8	p.Cys431Arg	rs770451464	missense variant	-	NC_000017.11:g.2041816T>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser432Asn	rs773810529	missense variant	-	NC_000017.11:g.2041820G>A	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Ser432Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.2041819A>T	NCI-TCGA
DPH1	Q9BZG8	p.Arg434Thr	rs559509813	missense variant	-	NC_000017.11:g.2041826G>C	1000Genomes,ExAC,gnomAD
DPH1	Q9BZG8	p.Arg434Gly	rs1353666549	missense variant	-	NC_000017.11:g.2041825A>G	gnomAD
DPH1	Q9BZG8	p.Glu436Gly	rs1446762577	missense variant	-	NC_000017.11:g.2041832A>G	TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu436Asp	rs767386080	missense variant	-	NC_000017.11:g.2041833G>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Glu436Lys	rs1290196722	missense variant	-	NC_000017.11:g.2041831G>A	gnomAD
DPH1	Q9BZG8	p.Glu436Gln	rs1290196722	missense variant	-	NC_000017.11:g.2041831G>C	gnomAD
DPH1	Q9BZG8	p.Lys437Asn	rs760558224	missense variant	-	NC_000017.11:g.2041836G>C	ExAC,TOPMed,gnomAD
DPH1	Q9BZG8	p.Lys437Gln	rs752571174	missense variant	-	NC_000017.11:g.2041834A>C	ExAC,gnomAD
DPH1	Q9BZG8	p.Lys437Glu	rs752571174	missense variant	-	NC_000017.11:g.2041834A>G	ExAC,gnomAD
DPH1	Q9BZG8	p.Val438Met	rs951247750	missense variant	-	NC_000017.11:g.2041837G>A	gnomAD
DPH1	Q9BZG8	p.Val438Ala	rs1262165274	missense variant	-	NC_000017.11:g.2041838T>C	gnomAD
DPH1	Q9BZG8	p.Ala439Thr	rs763773937	missense variant	-	NC_000017.11:g.2041840G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro440Ser	rs1164022144	missense variant	-	NC_000017.11:g.2041843C>T	gnomAD
DPH1	Q9BZG8	p.Pro440Leu	rs1407597528	missense variant	-	NC_000017.11:g.2041844C>T	gnomAD
DPH1	Q9BZG8	p.Leu441Gln	rs1156598741	missense variant	-	NC_000017.11:g.2041847T>A	gnomAD
DPH1	Q9BZG8	p.Ala442Thr	rs757510522	missense variant	-	NC_000017.11:g.2041849G>A	ExAC,gnomAD
DPH1	Q9BZG8	p.Ala442Val	rs1411959815	missense variant	-	NC_000017.11:g.2041850C>T	TOPMed
DPH1	Q9BZG8	p.Pro443Ser	rs779136511	missense variant	-	NC_000017.11:g.2041852C>T	ExAC,gnomAD
DPH1	Q9BZG8	p.Pro443Leu	rs1449644332	missense variant	-	NC_000017.11:g.2041853C>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly2Val	rs1456778190	missense variant	-	NC_000002.12:g.218881000G>T	TOPMed
WNT10A	Q9GZT5	p.Gly2Ser	rs533605522	missense variant	-	NC_000002.12:g.218880999G>A	1000Genomes,ExAC,gnomAD
WNT10A	Q9GZT5	p.Ser3Ile	rs1224131248	missense variant	-	NC_000002.12:g.218881003G>T	gnomAD
WNT10A	Q9GZT5	p.Ser3Cys	rs1324234734	missense variant	-	NC_000002.12:g.218881002A>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala4Thr	rs1250814247	missense variant	-	NC_000002.12:g.218881005G>A	gnomAD
WNT10A	Q9GZT5	p.Arg7Ser	rs762798470	missense variant	-	NC_000002.12:g.218881014C>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg7Cys	rs762798470	missense variant	-	NC_000002.12:g.218881014C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg7Gly	rs762798470	missense variant	-	NC_000002.12:g.218881014C>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro8Arg	rs1490274443	missense variant	-	NC_000002.12:g.218881018C>G	gnomAD
WNT10A	Q9GZT5	p.Pro8Ser	COSM3577820	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218881017C>T	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Trp9Arg	rs751336433	missense variant	-	NC_000002.12:g.218881020T>C	ExAC,TOPMed
WNT10A	Q9GZT5	p.Trp9Ter	RCV000004720	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218881022G>A	ClinVar
WNT10A	Q9GZT5	p.Trp9Leu	rs1197751092	missense variant	-	NC_000002.12:g.218881021G>T	gnomAD
WNT10A	Q9GZT5	p.Trp9Ter	rs121908123	stop gained	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218881022G>A	-
WNT10A	Q9GZT5	p.Leu10Arg	rs920172499	missense variant	-	NC_000002.12:g.218881024T>G	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg11Gly	rs1431999158	missense variant	-	NC_000002.12:g.218881026C>G	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg11Leu	rs1208587249	missense variant	-	NC_000002.12:g.218881027G>T	TOPMed
WNT10A	Q9GZT5	p.Arg13Ter	rs756946393	stop gained	-	NC_000002.12:g.218881032C>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg13Pro	rs767104236	missense variant	-	NC_000002.12:g.218881033G>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro16Thr	rs1164088225	missense variant	-	NC_000002.12:g.218881041C>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gln17Ter	rs1304739962	stop gained	-	NC_000002.12:g.218881044C>T	gnomAD
WNT10A	Q9GZT5	p.Pro18Ala	rs749946704	missense variant	-	NC_000002.12:g.218881047C>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg19Leu	rs1311504245	missense variant	-	NC_000002.12:g.218881051G>T	TOPMed
WNT10A	Q9GZT5	p.Pro20Gln	rs779424847	missense variant	-	NC_000002.12:g.218881054C>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro20Ser	rs1305814474	missense variant	-	NC_000002.12:g.218881053C>T	gnomAD
WNT10A	Q9GZT5	p.Ala21Val	rs749864407	missense variant	-	NC_000002.12:g.218881057C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala21Gly	rs749864407	missense variant	-	NC_000002.12:g.218881057C>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala21Thr	rs1252067608	missense variant	-	NC_000002.12:g.218881056G>A	gnomAD
WNT10A	Q9GZT5	p.Trp23Ter	rs1220645831	stop gained	-	NC_000002.12:g.218881063G>A	gnomAD
WNT10A	Q9GZT5	p.Val24Met	rs779458717	missense variant	-	NC_000002.12:g.218881065G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val24Leu	rs779458717	missense variant	-	NC_000002.12:g.218881065G>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu25Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218881068C>T	NCI-TCGA
WNT10A	Q9GZT5	p.Phe27Leu	rs747065109	missense variant	-	NC_000002.12:g.218881074T>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Leu29Pro	rs1454334671	missense variant	-	NC_000002.12:g.218881081T>C	TOPMed
WNT10A	Q9GZT5	p.Leu30Pro	rs1384152431	missense variant	-	NC_000002.12:g.218881084T>C	gnomAD
WNT10A	Q9GZT5	p.Ala35Thr	rs1276330659	missense variant	-	NC_000002.12:g.218881098G>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala35Pro	rs1276330659	missense variant	-	NC_000002.12:g.218881098G>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Met36Ile	rs915885112	missense variant	-	NC_000002.12:g.218881103G>C	gnomAD
WNT10A	Q9GZT5	p.Met36Ile	rs915885112	missense variant	-	NC_000002.12:g.218881103G>A	gnomAD
WNT10A	Q9GZT5	p.Met36Leu	rs1365925081	missense variant	-	NC_000002.12:g.218881101A>T	gnomAD
WNT10A	Q9GZT5	p.Pro37Thr	rs776565022	missense variant	-	NC_000002.12:g.218881104C>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro37Arg	rs1364023914	missense variant	-	NC_000002.12:g.218881105C>G	gnomAD
WNT10A	Q9GZT5	p.Pro37Ala	rs776565022	missense variant	-	NC_000002.12:g.218881104C>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro37Ser	rs776565022	missense variant	-	NC_000002.12:g.218881104C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg38Ser	rs748539203	missense variant	-	NC_000002.12:g.218882161G>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg38Trp	rs762998852	missense variant	-	NC_000002.12:g.218881107A>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg38Gly	rs762998852	missense variant	-	NC_000002.12:g.218881107A>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ser39Thr	rs1427142853	missense variant	-	NC_000002.12:g.218882162T>A	gnomAD
WNT10A	Q9GZT5	p.Asn42Ser	rs149865858	missense variant	-	NC_000002.12:g.218882172A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asn42Ile	rs149865858	missense variant	-	NC_000002.12:g.218882172A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu47Pro	rs1296704490	missense variant	-	NC_000002.12:g.218882187T>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu47Ile	rs1441739237	missense variant	-	NC_000002.12:g.218882186C>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu47Phe	rs1441739237	missense variant	-	NC_000002.12:g.218882186C>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg48Leu	rs375577530	missense variant	-	NC_000002.12:g.218882190G>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg48His	rs375577530	missense variant	-	NC_000002.12:g.218882190G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg48Cys	rs774127616	missense variant	-	NC_000002.12:g.218882189C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu49Ile	rs1283156128	missense variant	-	NC_000002.12:g.218882192C>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu49Phe	rs1283156128	missense variant	-	NC_000002.12:g.218882192C>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro50Leu	RCV000344076	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882196C>T	ClinVar
WNT10A	Q9GZT5	p.Pro50Leu	RCV000543463	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882196C>T	ClinVar
WNT10A	Q9GZT5	p.Pro50His	rs199980023	missense variant	-	NC_000002.12:g.218882196C>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro50Thr	rs745898676	missense variant	-	NC_000002.12:g.218882195C>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Pro50Leu	rs199980023	missense variant	-	NC_000002.12:g.218882196C>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro50Leu	RCV000397838	missense variant	-	NC_000002.12:g.218882196C>T	ClinVar
WNT10A	Q9GZT5	p.Pro50Leu	RCV000289030	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882196C>T	ClinVar
WNT10A	Q9GZT5	p.Pro51Leu	rs372538189	missense variant	-	NC_000002.12:g.218882199C>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro51Arg	rs372538189	missense variant	-	NC_000002.12:g.218882199C>G	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro51ArgPheSerTerUnkUnk	rs749297006	frameshift	-	NC_000002.12:g.218882194C>-	NCI-TCGA,NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Glu52GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.218882193_218882194insC	NCI-TCGA
WNT10A	Q9GZT5	p.Pro53His	rs1483233058	missense variant	-	NC_000002.12:g.218882205C>A	gnomAD
WNT10A	Q9GZT5	p.Val54Met	rs375821607	missense variant	-	NC_000002.12:g.218882207G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu55Phe	COSM4091548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218882210C>T	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Asn56Ser	rs1481386773	missense variant	-	NC_000002.12:g.218882214A>G	gnomAD
WNT10A	Q9GZT5	p.Ala57Val	rs1425958867	missense variant	-	NC_000002.12:g.218882217C>T	gnomAD
WNT10A	Q9GZT5	p.Asn58Ser	rs916352937	missense variant	-	NC_000002.12:g.218882220A>G	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu64Phe	rs1391749559	missense variant	-	NC_000002.12:g.218882239G>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro65Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218882241C>G	NCI-TCGA
WNT10A	Q9GZT5	p.Pro65Ser	COSM3577821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218882240C>T	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Gly66Ser	rs984053888	missense variant	-	NC_000002.12:g.218882243G>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu67Pro	rs772059787	missense variant	-	NC_000002.12:g.218882247T>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ser68Asn	rs147129328	missense variant	-	NC_000002.12:g.218882250G>A	ESP,TOPMed
WNT10A	Q9GZT5	p.Arg69Leu	rs751841151	missense variant	-	NC_000002.12:g.218882253G>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg69Gly	rs200487809	missense variant	-	NC_000002.12:g.218882252C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg69Trp	rs200487809	missense variant	-	NC_000002.12:g.218882252C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg69Gln	rs751841151	missense variant	-	NC_000002.12:g.218882253G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg70Gln	rs781210267	missense variant	-	NC_000002.12:g.218882256G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg70Trp	rs146460077	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882255C>T	UniProt,dbSNP
WNT10A	Q9GZT5	p.Arg70Trp	VAR_079418	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882255C>T	UniProt
WNT10A	Q9GZT5	p.Arg70Trp	rs146460077	missense variant	-	NC_000002.12:g.218882255C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg70Trp	RCV000639740	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882255C>T	ClinVar
WNT10A	Q9GZT5	p.Gln71Leu	rs368943130	missense variant	-	NC_000002.12:g.218882259A>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gln71Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218882259A>G	NCI-TCGA
WNT10A	Q9GZT5	p.Met72Ile	rs373607885	missense variant	-	NC_000002.12:g.218882263G>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Met72Ile	RCV000558141	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882263G>T	ClinVar
WNT10A	Q9GZT5	p.Met72Ile	rs373607885	missense variant	-	NC_000002.12:g.218882263G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Glu73Gly	rs1221394460	missense variant	-	NC_000002.12:g.218882265A>G	gnomAD
WNT10A	Q9GZT5	p.Arg77Cys	rs748131786	missense variant	-	NC_000002.12:g.218882276C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg77His	rs761027045	missense variant	-	NC_000002.12:g.218882277G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg77CysPheSerTerUnkUnk	COSM1405526	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.218882266_218882267insGT	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.His78Arg	rs1402476029	missense variant	-	NC_000002.12:g.218882280A>G	TOPMed
WNT10A	Q9GZT5	p.His78Gln	rs199802454	missense variant	-	NC_000002.12:g.218882281C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val81Ala	RCV000483296	missense variant	-	NC_000002.12:g.218882289T>C	ClinVar
WNT10A	Q9GZT5	p.Val81Ala	rs1064796619	missense variant	-	NC_000002.12:g.218882289T>C	-
WNT10A	Q9GZT5	p.Ala82Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218882291G>A	NCI-TCGA
WNT10A	Q9GZT5	p.Ala83Thr	rs760336599	missense variant	-	NC_000002.12:g.218882294G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala83Gly	rs770632441	missense variant	-	NC_000002.12:g.218882295C>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ala85Thr	rs776083669	missense variant	-	NC_000002.12:g.218882300G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ile86Thr	rs759258188	missense variant	-	NC_000002.12:g.218882304T>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gln87His	rs1430621072	missense variant	-	NC_000002.12:g.218882308G>T	gnomAD
WNT10A	Q9GZT5	p.Gly88Ser	rs1443984375	missense variant	-	NC_000002.12:g.218882309G>A	TOPMed
WNT10A	Q9GZT5	p.Gly88Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218882310G>A	NCI-TCGA
WNT10A	Q9GZT5	p.Ala92Val	rs1553622317	missense variant	-	NC_000002.12:g.218882322C>T	-
WNT10A	Q9GZT5	p.Ala92Thr	rs572942384	missense variant	-	NC_000002.12:g.218882321G>A	ExAC,TOPMed
WNT10A	Q9GZT5	p.Ala92Pro	rs572942384	missense variant	-	NC_000002.12:g.218882321G>C	ExAC,TOPMed
WNT10A	Q9GZT5	p.Ala92Val	RCV000639736	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882322C>T	ClinVar
WNT10A	Q9GZT5	p.Ile93Phe	rs6744926	missense variant	-	NC_000002.12:g.218882324A>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ile93Val	rs6744926	missense variant	-	NC_000002.12:g.218882324A>G	TOPMed,gnomAD
WNT10A	Q9GZT5	p.His94Tyr	rs1326361907	missense variant	-	NC_000002.12:g.218882327C>T	gnomAD
WNT10A	Q9GZT5	p.Glu95Lys	rs318240759	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882330G>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Glu95Lys	VAR_069171	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882330G>A	UniProt
WNT10A	Q9GZT5	p.Glu95Lys	rs318240759	missense variant	-	NC_000002.12:g.218882330G>A	gnomAD
WNT10A	Q9GZT5	p.Glu95Lys	RCV000811807	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882330G>A	ClinVar
WNT10A	Q9GZT5	p.Cys96Ser	rs1365352483	missense variant	-	NC_000002.12:g.218882334G>C	gnomAD
WNT10A	Q9GZT5	p.His98Gln	rs1244745229	missense variant	-	NC_000002.12:g.218882341C>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg104His	RCV000782362	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882358G>A	ClinVar
WNT10A	Q9GZT5	p.Arg104Cys	rs764658964	missense variant	-	NC_000002.12:g.218882357C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg104Cys	RCV000639735	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882357C>T	ClinVar
WNT10A	Q9GZT5	p.Arg104His	rs374910216	missense variant	-	NC_000002.12:g.218882358G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Trp105Cys	RCV000305206	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882362G>C	ClinVar
WNT10A	Q9GZT5	p.Trp105Ter	COSM3909616	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.218882362G>A	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Trp105Cys	rs886055642	missense variant	-	NC_000002.12:g.218882362G>C	-
WNT10A	Q9GZT5	p.Trp105Cys	RCV000359992	missense variant	-	NC_000002.12:g.218882362G>C	ClinVar
WNT10A	Q9GZT5	p.Trp105Cys	RCV000260696	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882362G>C	ClinVar
WNT10A	Q9GZT5	p.Asn106Lys	rs1283426045	missense variant	-	NC_000002.12:g.218882365C>G	gnomAD
WNT10A	Q9GZT5	p.Cys107Ser	rs377510918	missense variant	-	NC_000002.12:g.218882366T>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Cys107Ter	rs121908119	stop gained	Odontoonychodermal dysplasia (oodd), Schopf-schulz-passarge syndrome (ssps)	NC_000002.12:g.218882368C>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Cys107Ter	RCV000779308	nonsense	WNT10A-Related Disorders	NC_000002.12:g.218882368C>A	ClinVar
WNT10A	Q9GZT5	p.Cys107Ter	RCV000190800	nonsense	Inborn genetic diseases	NC_000002.12:g.218882368C>A	ClinVar
WNT10A	Q9GZT5	p.Cys107Ter	RCV000030650	nonsense	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882368C>A	ClinVar
WNT10A	Q9GZT5	p.Cys107Ter	RCV000255732	nonsense	-	NC_000002.12:g.218882368C>A	ClinVar
WNT10A	Q9GZT5	p.Cys107Ter	RCV000004715	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882368C>A	ClinVar
WNT10A	Q9GZT5	p.Cys107Ter	RCV000477935	nonsense	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882368C>A	ClinVar
WNT10A	Q9GZT5	p.Cys107Ter	RCV000004716	nonsense	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882368C>A	ClinVar
WNT10A	Q9GZT5	p.Cys107Ter	RCV000536747	nonsense	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882368C>A	ClinVar
WNT10A	Q9GZT5	p.Cys107_Lys417del	VAR_079419	inframe_deletion	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]	-	UniProt
WNT10A	Q9GZT5	p.Ser108Pro	rs1249944381	missense variant	-	NC_000002.12:g.218882369T>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ser109Arg	rs754001343	missense variant	-	NC_000002.12:g.218882374C>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Leu110Pro	rs1183210495	missense variant	-	NC_000002.12:g.218882376T>C	gnomAD
WNT10A	Q9GZT5	p.Glu111Gly	rs1287697517	missense variant	-	NC_000002.12:g.218882379A>G	gnomAD
WNT10A	Q9GZT5	p.Thr112Ala	rs1383631669	missense variant	-	NC_000002.12:g.218882381A>G	gnomAD
WNT10A	Q9GZT5	p.Arg113Cys	RCV000413047	missense variant	-	NC_000002.12:g.218882384C>T	ClinVar
WNT10A	Q9GZT5	p.Arg113Cys	rs141074983	missense variant	-	NC_000002.12:g.218882384C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg113His	rs749324327	missense variant	-	NC_000002.12:g.218882385G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg113Ser	rs141074983	missense variant	-	NC_000002.12:g.218882384C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg113Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218882385G>T	NCI-TCGA
WNT10A	Q9GZT5	p.Ile116Thr	rs762311530	missense variant	-	NC_000002.12:g.218882394T>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro117Arg	rs746826999	missense variant	-	NC_000002.12:g.218882397C>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Pro117Ser	rs144212422	missense variant	-	NC_000002.12:g.218882396C>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro117Leu	rs746826999	missense variant	-	NC_000002.12:g.218882397C>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Pro117Ser	RCV000315891	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882396C>T	ClinVar
WNT10A	Q9GZT5	p.Pro117Ser	RCV000275342	missense variant	-	NC_000002.12:g.218882396C>T	ClinVar
WNT10A	Q9GZT5	p.Pro117Ser	RCV000356033	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882396C>T	ClinVar
WNT10A	Q9GZT5	p.Glu119Lys	rs770699256	missense variant	-	NC_000002.12:g.218882402G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ile122Thr	rs775174153	missense variant	-	NC_000002.12:g.218882412T>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ile122Val	rs201929547	missense variant	-	NC_000002.12:g.218882411A>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ile122Phe	rs201929547	missense variant	-	NC_000002.12:g.218882411A>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly126Ser	rs1245189224	missense variant	-	NC_000002.12:g.218882423G>A	gnomAD
WNT10A	Q9GZT5	p.Gly126Ser	rs1245189224	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882423G>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Gly126Ser	VAR_077446	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882423G>A	UniProt
WNT10A	Q9GZT5	p.Phe127Val	rs1253106095	missense variant	-	NC_000002.12:g.218889986T>G	gnomAD
WNT10A	Q9GZT5	p.Arg128Gln	rs121908121	missense variant	-	NC_000002.12:g.218889990G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg128Gln	rs121908121	missense variant	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218889990G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg128Gln	rs121908121	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218889990G>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Arg128Gln	VAR_062510	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218889990G>A	UniProt
WNT10A	Q9GZT5	p.Arg128Gln	rs121908121	missense variant	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218889990G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg128Ter	rs762739726	stop gained	-	NC_000002.12:g.218889989C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg128Ter	RCV000551493	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218889989C>T	ClinVar
WNT10A	Q9GZT5	p.Arg128Gln	RCV000004718	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218889990G>A	ClinVar
WNT10A	Q9GZT5	p.Arg128Gln	RCV000030651	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218889990G>A	ClinVar
WNT10A	Q9GZT5	p.Arg128Ter	RCV000760328	nonsense	-	NC_000002.12:g.218889989C>T	ClinVar
WNT10A	Q9GZT5	p.Glu129Asp	rs1378858796	missense variant	-	NC_000002.12:g.218889994G>C	gnomAD
WNT10A	Q9GZT5	p.Glu129Asp	COSM1016519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218889994G>T	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Ser130Gly	rs369027365	missense variant	-	NC_000002.12:g.218889995A>G	ESP,ExAC,gnomAD
WNT10A	Q9GZT5	p.Ala131Thr	RCV000254796	missense variant	-	NC_000002.12:g.218889998G>A	ClinVar
WNT10A	Q9GZT5	p.Ala131Ser	rs372993798	missense variant	-	NC_000002.12:g.218889998G>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala131Thr	rs372993798	missense variant	-	NC_000002.12:g.218889998G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala131Thr	rs372993798	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218889998G>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Ala131Thr	VAR_077447	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218889998G>A	UniProt
WNT10A	Q9GZT5	p.Ala131Val	VAR_077448	Missense	Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]	-	UniProt
WNT10A	Q9GZT5	p.Ala133Val	rs773589533	missense variant	-	NC_000002.12:g.218890005C>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Tyr134Cys	rs760970669	missense variant	-	NC_000002.12:g.218890008A>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala135Thr	rs1402990329	missense variant	-	NC_000002.12:g.218890010G>A	gnomAD
WNT10A	Q9GZT5	p.Ala135Thr	RCV000696391	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890010G>A	ClinVar
WNT10A	Q9GZT5	p.Ile136Val	rs755217072	missense variant	-	NC_000002.12:g.218890013A>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ile136Met	rs201117517	missense variant	-	NC_000002.12:g.218890015C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala137Thr	rs757175044	missense variant	-	NC_000002.12:g.218890016G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala138Gly	rs745674978	missense variant	-	NC_000002.12:g.218890020C>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Val141Met	rs779978162	missense variant	-	NC_000002.12:g.218890028G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val142Met	rs768321561	missense variant	-	NC_000002.12:g.218890031G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.His143Asn	rs202024965	missense variant	-	NC_000002.12:g.218890034C>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.His143Tyr	rs202024965	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890034C>T	UniProt,dbSNP
WNT10A	Q9GZT5	p.His143Tyr	VAR_064837	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890034C>T	UniProt
WNT10A	Q9GZT5	p.His143Tyr	rs202024965	missense variant	-	NC_000002.12:g.218890034C>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.His143Arg	rs1191884760	missense variant	-	NC_000002.12:g.218890035A>G	gnomAD
WNT10A	Q9GZT5	p.Ala144Thr	rs570082664	missense variant	-	NC_000002.12:g.218890037G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Val145Ala	rs776959830	missense variant	-	NC_000002.12:g.218890041T>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val145Leu	rs543063101	missense variant	-	NC_000002.12:g.218890040G>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val145Met	RCV000525525	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890040G>A	ClinVar
WNT10A	Q9GZT5	p.Val145Leu	rs543063101	missense variant	-	NC_000002.12:g.218890040G>C	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val145Met	rs543063101	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890040G>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Val145Met	VAR_064838	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890040G>A	UniProt
WNT10A	Q9GZT5	p.Val145Met	rs543063101	missense variant	-	NC_000002.12:g.218890040G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ser146Cys	RCV000381373	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890044C>G	ClinVar
WNT10A	Q9GZT5	p.Ser146Cys	rs759718991	missense variant	-	NC_000002.12:g.218890044C>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ser146Cys	RCV000326647	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218890044C>G	ClinVar
WNT10A	Q9GZT5	p.Ser146Cys	RCV000291690	missense variant	-	NC_000002.12:g.218890044C>G	ClinVar
WNT10A	Q9GZT5	p.Ala148Val	rs373695499	missense variant	-	NC_000002.12:g.218890050C>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly152Asp	rs750440247	missense variant	-	NC_000002.12:g.218890062G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Leu154Met	rs148187600	missense variant	-	NC_000002.12:g.218890067C>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Lys155Glu	rs780033157	missense variant	-	NC_000002.12:g.218890070A>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala156Ser	rs375819091	missense variant	-	NC_000002.12:g.218890073G>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala156Thr	rs375819091	missense variant	-	NC_000002.12:g.218890073G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala156Pro	rs375819091	missense variant	-	NC_000002.12:g.218890073G>C	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly158Val	COSM719948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218890080G>T	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Gly158Asp	rs771680898	missense variant	-	NC_000002.12:g.218890080G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Cys159Tyr	rs1450863492	missense variant	-	NC_000002.12:g.218890083G>A	gnomAD
WNT10A	Q9GZT5	p.Asp160Val	rs80153590	missense variant	-	NC_000002.12:g.218890086A>T	gnomAD
WNT10A	Q9GZT5	p.Asp160Gly	rs80153590	missense variant	-	NC_000002.12:g.218890086A>G	gnomAD
WNT10A	Q9GZT5	p.Ala161Val	rs777252016	missense variant	-	NC_000002.12:g.218890089C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg163Trp	RCV000172902	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000002.12:g.218890094C>T	ClinVar
WNT10A	Q9GZT5	p.Arg163Trp	RCV000522644	missense variant	-	NC_000002.12:g.218890094C>T	ClinVar
WNT10A	Q9GZT5	p.Arg163Trp	rs368280129	missense variant	-	NC_000002.12:g.218890094C>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg163Trp	rs368280129	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890094C>T	UniProt,dbSNP
WNT10A	Q9GZT5	p.Arg163Trp	VAR_069172	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890094C>T	UniProt
WNT10A	Q9GZT5	p.Arg163Gly	rs368280129	missense variant	-	NC_000002.12:g.218890094C>G	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg163Gln	rs201178499	missense variant	-	NC_000002.12:g.218890095G>A	ESP,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg164Gln	rs150744644	missense variant	-	NC_000002.12:g.218890098G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg164Pro	rs150744644	missense variant	-	NC_000002.12:g.218890098G>C	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg164Ter	rs561173643	stop gained	-	NC_000002.12:g.218890097C>T	1000Genomes
WNT10A	Q9GZT5	p.Gly165Arg	rs77583146	missense variant	-	NC_000002.12:g.218890100G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly165Arg	RCV000535680	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890100G>A	ClinVar
WNT10A	Q9GZT5	p.Asp166Glu	rs143463683	missense variant	-	NC_000002.12:g.218890105C>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Glu167Gln	rs148714379	missense variant	-	NC_000002.12:g.218890106G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Glu167Lys	rs148714379	missense variant	-	NC_000002.12:g.218890106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Glu168Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.218890109G>T	NCI-TCGA
WNT10A	Q9GZT5	p.Phe170Leu	rs766368714	missense variant	-	NC_000002.12:g.218890115T>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg171His	rs199737793	missense variant	-	NC_000002.12:g.218890119G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg171Cys	rs116998555	missense variant	-	NC_000002.12:g.218890118C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg171Leu	rs199737793	missense variant	-	NC_000002.12:g.218890119G>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg171Ser	rs116998555	missense variant	-	NC_000002.12:g.218890118C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg171Cys	RCV000255246	missense variant	-	NC_000002.12:g.218890118C>T	ClinVar
WNT10A	Q9GZT5	p.Arg172Trp	rs145641272	missense variant	-	NC_000002.12:g.218890121A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Lys173Asn	rs758023820	missense variant	-	NC_000002.12:g.218890126G>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Leu174Pro	rs777307167	missense variant	-	NC_000002.12:g.218890128T>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.His175Tyr	rs1465812643	missense variant	-	NC_000002.12:g.218890130C>T	gnomAD
WNT10A	Q9GZT5	p.Arg176His	rs757786591	missense variant	-	NC_000002.12:g.218890134G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg176Cys	rs754010310	missense variant	-	NC_000002.12:g.218890133C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu182Arg	rs1469075360	missense variant	-	NC_000002.12:g.218890152T>G	TOPMed
WNT10A	Q9GZT5	p.Arg184His	RCV000273430	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218890158G>A	ClinVar
WNT10A	Q9GZT5	p.Arg184His	RCV000314527	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890158G>A	ClinVar
WNT10A	Q9GZT5	p.Arg184His	rs372756514	missense variant	-	NC_000002.12:g.218890158G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg184His	RCV000367917	missense variant	-	NC_000002.12:g.218890158G>A	ClinVar
WNT10A	Q9GZT5	p.Arg184Pro	rs372756514	missense variant	-	NC_000002.12:g.218890158G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg184Cys	rs547204429	missense variant	-	NC_000002.12:g.218890157C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly185Ala	rs1458852116	missense variant	-	NC_000002.12:g.218890161G>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly185Asp	COSM3991073	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218890161G>A	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Lys186Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218890165G>T	NCI-TCGA
WNT10A	Q9GZT5	p.Gly187Asp	rs774591921	missense variant	-	NC_000002.12:g.218890167G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Gly187Val	rs774591921	missense variant	-	NC_000002.12:g.218890167G>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Leu188Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218890169C>A	NCI-TCGA
WNT10A	Q9GZT5	p.Leu188Arg	rs1304878664	missense variant	-	NC_000002.12:g.218890170T>G	gnomAD
WNT10A	Q9GZT5	p.Ser189Arg	rs1238996525	missense variant	-	NC_000002.12:g.218890174C>A	TOPMed
WNT10A	Q9GZT5	p.Ser189Asn	rs1313500684	missense variant	-	NC_000002.12:g.218890173G>A	gnomAD
WNT10A	Q9GZT5	p.His190Arg	rs766421951	missense variant	-	NC_000002.12:g.218890176A>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly191Ala	rs757501987	missense variant	-	NC_000002.12:g.218890179G>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Val192Asp	rs1331876781	missense variant	-	NC_000002.12:g.218890182T>A	gnomAD
WNT10A	Q9GZT5	p.Pro193Leu	rs765128645	missense variant	-	NC_000002.12:g.218890185C>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Pro193Arg	rs765128645	missense variant	-	NC_000002.12:g.218890185C>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Pro193Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218890184C>T	NCI-TCGA
WNT10A	Q9GZT5	p.His195Gln	rs1211787387	missense variant	-	NC_000002.12:g.218890192C>G	gnomAD
WNT10A	Q9GZT5	p.Pro196Ser	rs976032535	missense variant	-	NC_000002.12:g.218890193C>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro196Gln	rs1480150631	missense variant	-	NC_000002.12:g.218890194C>A	gnomAD
WNT10A	Q9GZT5	p.Ala197Thr	rs763690954	missense variant	-	NC_000002.12:g.218890196G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala197Pro	rs763690954	missense variant	-	NC_000002.12:g.218890196G>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro199Leu	rs1451725884	missense variant	-	NC_000002.12:g.218890203C>T	TOPMed
WNT10A	Q9GZT5	p.Thr200Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218890206C>T	NCI-TCGA
WNT10A	Q9GZT5	p.Ala201Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218890208G>T	NCI-TCGA
WNT10A	Q9GZT5	p.Ser202Asn	rs780566013	missense variant	-	NC_000002.12:g.218890212G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ser202Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218890211A>G	NCI-TCGA
WNT10A	Q9GZT5	p.Ser202Arg	rs1428675922	missense variant	-	NC_000002.12:g.218890213C>G	gnomAD
WNT10A	Q9GZT5	p.Gln206Ter	rs1060499588	stop gained	-	NC_000002.12:g.218890223C>T	-
WNT10A	Q9GZT5	p.Gln206Ter	RCV000477883	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890223C>T	ClinVar
WNT10A	Q9GZT5	p.Asp207His	rs1178430575	missense variant	-	NC_000002.12:g.218890226G>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ser208Phe	rs756543596	missense variant	-	NC_000002.12:g.218890230C>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ser208Pro	rs1359967443	missense variant	-	NC_000002.12:g.218890229T>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Trp209Ter	rs1306584103	stop gained	-	NC_000002.12:g.218890234G>A	gnomAD
WNT10A	Q9GZT5	p.Glu210Asp	rs377503582	missense variant	-	NC_000002.12:g.218890237G>C	ESP,ExAC,gnomAD
WNT10A	Q9GZT5	p.Trp211Ter	rs1488019548	stop gained	-	NC_000002.12:g.218890240G>A	gnomAD
WNT10A	Q9GZT5	p.Trp211Ter	rs1156948793	stop gained	-	NC_000002.12:g.218890239G>A	TOPMed
WNT10A	Q9GZT5	p.Gly213Ser	RCV000845115	missense variant	-	NC_000002.12:g.218890244G>A	ClinVar
WNT10A	Q9GZT5	p.Gly213Ser	rs147680216	missense variant	Odonto-onycho-dermal dysplasia (OODD)	NC_000002.12:g.218890244G>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Gly213Ser	VAR_077450	missense variant	Odonto-onycho-dermal dysplasia (OODD)	NC_000002.12:g.218890244G>A	UniProt
WNT10A	Q9GZT5	p.Gly213Ser	rs147680216	missense variant	-	NC_000002.12:g.218890244G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly213Asp	rs774646988	missense variant	-	NC_000002.12:g.218890245G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Gly213Ser	RCV000490390	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890244G>A	ClinVar
WNT10A	Q9GZT5	p.Ser215Gly	rs1278842223	missense variant	-	NC_000002.12:g.218890250A>G	gnomAD
WNT10A	Q9GZT5	p.Pro216Ala	rs1183210352	missense variant	-	NC_000002.12:g.218890253C>G	TOPMed
WNT10A	Q9GZT5	p.Asp217Asn	RCV000322248	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890256G>A	ClinVar
WNT10A	Q9GZT5	p.Asp217Gly	rs1057520655	missense variant	-	NC_000002.12:g.218890257A>G	gnomAD
WNT10A	Q9GZT5	p.Asp217Asn	rs146902156	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890256G>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Asp217Asn	VAR_069173	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890256G>A	UniProt
WNT10A	Q9GZT5	p.Asp217Asn	rs146902156	missense variant	-	NC_000002.12:g.218890256G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asp217Gly	RCV000431228	missense variant	-	NC_000002.12:g.218890257A>G	ClinVar
WNT10A	Q9GZT5	p.Asp217Asn	RCV000385003	missense variant	-	NC_000002.12:g.218890256G>A	ClinVar
WNT10A	Q9GZT5	p.Asp217Asn	RCV000271824	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218890256G>A	ClinVar
WNT10A	Q9GZT5	p.Met218Val	RCV000376761	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218890259A>G	ClinVar
WNT10A	Q9GZT5	p.Met218Ile	rs947829246	missense variant	-	NC_000002.12:g.218890261G>A	TOPMed
WNT10A	Q9GZT5	p.Met218Thr	rs759559158	missense variant	-	NC_000002.12:g.218890260T>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Met218Val	rs373991357	missense variant	-	NC_000002.12:g.218890259A>G	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Met218Leu	rs373991357	missense variant	-	NC_000002.12:g.218890259A>C	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Met218Val	RCV000287049	missense variant	-	NC_000002.12:g.218890259A>G	ClinVar
WNT10A	Q9GZT5	p.Met218Val	RCV000341862	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890259A>G	ClinVar
WNT10A	Q9GZT5	p.Gly219Asp	rs1198581727	missense variant	-	NC_000002.12:g.218890263G>A	gnomAD
WNT10A	Q9GZT5	p.Gly221Val	rs373870453	missense variant	-	NC_000002.12:g.218890269G>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly221Arg	rs775380022	missense variant	-	NC_000002.12:g.218890268G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Gly221Arg	RCV000489933	missense variant	-	NC_000002.12:g.218890268G>A	ClinVar
WNT10A	Q9GZT5	p.Glu222Ter	rs377416834	stop gained	-	NC_000002.12:g.218890271G>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg223Ser	rs149245953	missense variant	-	NC_000002.12:g.218890274C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg223Cys	RCV000528997	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890274C>T	ClinVar
WNT10A	Q9GZT5	p.Arg223Cys	RCV000415098	missense variant	-	NC_000002.12:g.218890274C>T	ClinVar
WNT10A	Q9GZT5	p.Arg223His	rs143424659	missense variant	-	NC_000002.12:g.218890275G>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg223Leu	COSM6157043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218890275G>T	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Arg223Cys	rs149245953	missense variant	-	NC_000002.12:g.218890274C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Phe224Leu	rs749857233	missense variant	-	NC_000002.12:g.218890277T>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Lys226Asn	rs1348678344	missense variant	-	NC_000002.12:g.218890285G>T	gnomAD
WNT10A	Q9GZT5	p.Lys226Glu	rs1303006218	missense variant	-	NC_000002.12:g.218890283A>G	gnomAD
WNT10A	Q9GZT5	p.Phe228Ile	rs121908120	missense variant	-	NC_000002.12:g.218890289T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Phe228Ile	rs121908120	missense variant	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218890289T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Phe228Ile	rs121908120	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890289T>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Phe228Ile	VAR_062511	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890289T>A	UniProt
WNT10A	Q9GZT5	p.Phe228Ile	rs121908120	missense variant	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218890289T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Phe228Ile	RCV000550721	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890289T>A	ClinVar
WNT10A	Q9GZT5	p.Leu229Arg	rs1274904666	missense variant	-	NC_000002.12:g.218890293T>G	gnomAD
WNT10A	Q9GZT5	p.Asp230Gly	rs780365309	missense variant	-	NC_000002.12:g.218890296A>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Asp230Glu	rs754257075	missense variant	-	NC_000002.12:g.218890297C>A	ExAC,TOPMed
WNT10A	Q9GZT5	p.Ser231Cys	rs755459738	missense variant	-	NC_000002.12:g.218890299C>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg232Gly	rs193098360	missense variant	-	NC_000002.12:g.218890301C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg232Gln	rs772154760	missense variant	-	NC_000002.12:g.218890302G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg232Trp	rs193098360	missense variant	-	NC_000002.12:g.218890301C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Glu233Ter	rs121908118	stop gained	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218890304G>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Glu233Ter	RCV000004714	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890304G>T	ClinVar
WNT10A	Q9GZT5	p.Glu233Lys	rs121908118	missense variant	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218890304G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro234His	rs769786368	missense variant	-	NC_000002.12:g.218890308C>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.His235Tyr	rs775342902	missense variant	-	NC_000002.12:g.218890310C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ile238Val	rs141891304	missense variant	-	NC_000002.12:g.218890319A>G	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ile238Leu	rs141891304	missense variant	-	NC_000002.12:g.218890319A>C	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.His239Asn	rs1416436905	missense variant	-	NC_000002.12:g.218890322C>A	TOPMed
WNT10A	Q9GZT5	p.Ala240Gly	rs201578578	missense variant	-	NC_000002.12:g.218890326C>G	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala240Val	rs201578578	missense variant	-	NC_000002.12:g.218890326C>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala240Thr	rs1386859394	missense variant	-	NC_000002.12:g.218890325G>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala240Glu	rs201578578	missense variant	-	NC_000002.12:g.218890326C>A	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala240Ser	rs1386859394	missense variant	-	NC_000002.12:g.218890325G>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Met242Arg	RCV000624049	missense variant	Inborn genetic diseases	NC_000002.12:g.218890332T>G	ClinVar
WNT10A	Q9GZT5	p.Met242Val	rs760035759	missense variant	-	NC_000002.12:g.218890331A>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Met242Lys	rs370462053	missense variant	-	NC_000002.12:g.218890332T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Met242Ile	rs755520030	missense variant	-	NC_000002.12:g.218890333G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Met242Thr	rs370462053	missense variant	-	NC_000002.12:g.218890332T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Met242Arg	rs370462053	missense variant	-	NC_000002.12:g.218890332T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg243Lys	rs1221314738	missense variant	-	NC_000002.12:g.218890335G>A	TOPMed
WNT10A	Q9GZT5	p.Leu244Phe	rs779460628	missense variant	-	NC_000002.12:g.218890337C>T	ExAC
WNT10A	Q9GZT5	p.His245Tyr	rs1356893468	missense variant	-	NC_000002.12:g.218890340C>T	TOPMed
WNT10A	Q9GZT5	p.His245Arg	rs758670077	missense variant	-	NC_000002.12:g.218890341A>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Asn246Ser	rs374494971	missense variant	-	NC_000002.12:g.218890344A>G	ESP,TOPMed
WNT10A	Q9GZT5	p.Asn246Asp	rs1432279078	missense variant	-	NC_000002.12:g.218890343A>G	gnomAD
WNT10A	Q9GZT5	p.Arg248Ter	RCV000677100	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890349C>T	ClinVar
WNT10A	Q9GZT5	p.Arg248Gln	rs747119693	missense variant	-	NC_000002.12:g.218890350G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg248Ter	RCV000254848	nonsense	-	NC_000002.12:g.218890349C>T	ClinVar
WNT10A	Q9GZT5	p.Arg248Ter	RCV000823047	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890349C>T	ClinVar
WNT10A	Q9GZT5	p.Arg248Ter	rs886039453	stop gained	-	NC_000002.12:g.218890349C>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val249Ala	rs781239708	missense variant	-	NC_000002.12:g.218890353T>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val249Ile	rs770985751	missense variant	-	NC_000002.12:g.218890352G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly250Arg	rs200387103	missense variant	-	NC_000002.12:g.218890355G>C	1000Genomes
WNT10A	Q9GZT5	p.Arg251Gly	rs749277120	missense variant	-	NC_000002.12:g.218890358A>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ala253Val	rs1414775738	missense variant	-	NC_000002.12:g.218892775C>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Met255Ile	rs1348446220	missense variant	-	NC_000002.12:g.218892782G>A	gnomAD
WNT10A	Q9GZT5	p.Met255Lys	rs1307156648	missense variant	-	NC_000002.12:g.218892781T>A	gnomAD
WNT10A	Q9GZT5	p.Glu256Gly	rs1324380921	missense variant	-	NC_000002.12:g.218892784A>G	TOPMed
WNT10A	Q9GZT5	p.Arg259Trp	rs576855744	missense variant	-	NC_000002.12:g.218892792C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg259Gln	rs1351117506	missense variant	-	NC_000002.12:g.218892793G>A	gnomAD
WNT10A	Q9GZT5	p.Arg260Gln	rs541050654	missense variant	-	NC_000002.12:g.218892796G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Lys261Arg	rs1323826587	missense variant	-	NC_000002.12:g.218892799A>G	TOPMed
WNT10A	Q9GZT5	p.Lys263Asn	rs991095247	missense variant	-	NC_000002.12:g.218892806G>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Cys264Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218892807T>G	NCI-TCGA
WNT10A	Q9GZT5	p.Cys264Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218892808G>A	NCI-TCGA
WNT10A	Q9GZT5	p.Gly266Ser	rs778752861	missense variant	-	NC_000002.12:g.218892813G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly266Ser	rs778752861	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218892813G>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Gly266Ser	VAR_077452	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218892813G>A	UniProt
WNT10A	Q9GZT5	p.Gly266Cys	VAR_077451	Missense	Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750]	-	UniProt
WNT10A	Q9GZT5	p.Ser268Pro	rs1253174379	missense variant	-	NC_000002.12:g.218892819T>C	gnomAD
WNT10A	Q9GZT5	p.Ser268Ter	rs886039454	stop gained	-	NC_000002.12:g.218892820C>G	gnomAD
WNT10A	Q9GZT5	p.Ser268Ter	RCV000255393	nonsense	-	NC_000002.12:g.218892820C>G	ClinVar
WNT10A	Q9GZT5	p.Ser270Arg	rs1378909303	missense variant	-	NC_000002.12:g.218892827C>A	gnomAD
WNT10A	Q9GZT5	p.Ser270Cys	rs1196164395	missense variant	-	NC_000002.12:g.218892825A>T	gnomAD
WNT10A	Q9GZT5	p.Gln272His	rs924058194	missense variant	-	NC_000002.12:g.218892833G>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gln272Ter	rs773036759	stop gained	-	NC_000002.12:g.218892831C>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Leu273Phe	rs111903177	missense variant	-	NC_000002.12:g.218892834C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu273Ile	rs111903177	missense variant	-	NC_000002.12:g.218892834C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu273Ile	RCV000358737	missense variant	-	NC_000002.12:g.218892834C>A	ClinVar
WNT10A	Q9GZT5	p.Leu273Ile	RCV000539438	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892834C>A	ClinVar
WNT10A	Q9GZT5	p.Leu273Ile	RCV000309072	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892834C>A	ClinVar
WNT10A	Q9GZT5	p.Leu273Ile	RCV000272729	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892834C>A	ClinVar
WNT10A	Q9GZT5	p.Lys274Gln	rs770667769	missense variant	-	NC_000002.12:g.218892837A>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Thr275Met	rs1386231185	missense variant	-	NC_000002.12:g.218892841C>T	gnomAD
WNT10A	Q9GZT5	p.Cys276Arg	rs1011303295	missense variant	-	NC_000002.12:g.218892843T>C	gnomAD
WNT10A	Q9GZT5	p.Cys276Phe	rs201593552	missense variant	-	NC_000002.12:g.218892844G>T	1000Genomes
WNT10A	Q9GZT5	p.Cys276Ser	RCV000677102	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892843T>A	ClinVar
WNT10A	Q9GZT5	p.Cys276Ser	rs1011303295	missense variant	-	NC_000002.12:g.218892843T>A	gnomAD
WNT10A	Q9GZT5	p.Trp277Cys	rs1234227647	missense variant	-	NC_000002.12:g.218892848G>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Trp277Cys	RCV000639738	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892848G>T	ClinVar
WNT10A	Q9GZT5	p.Trp277Ter	rs1332945612	stop gained	-	NC_000002.12:g.218892847G>A	gnomAD
WNT10A	Q9GZT5	p.Gln278Leu	rs1251472821	missense variant	-	NC_000002.12:g.218892850A>T	TOPMed
WNT10A	Q9GZT5	p.Val279Met	rs759060788	missense variant	-	NC_000002.12:g.218892852G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Thr280Met	rs1207783828	missense variant	-	NC_000002.12:g.218892856C>T	gnomAD
WNT10A	Q9GZT5	p.Thr280Ser	RCV000378470	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892855A>T	ClinVar
WNT10A	Q9GZT5	p.Thr280Ser	RCV000323835	missense variant	-	NC_000002.12:g.218892855A>T	ClinVar
WNT10A	Q9GZT5	p.Thr280Lys	rs1207783828	missense variant	-	NC_000002.12:g.218892856C>A	gnomAD
WNT10A	Q9GZT5	p.Thr280Ser	RCV000263980	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892855A>T	ClinVar
WNT10A	Q9GZT5	p.Thr280Ser	rs886055643	missense variant	-	NC_000002.12:g.218892855A>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro281Thr	rs541715493	missense variant	-	NC_000002.12:g.218892858C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro281Ala	rs541715493	missense variant	-	NC_000002.12:g.218892858C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro281Ala	RCV000350216	missense variant	-	NC_000002.12:g.218892858C>G	ClinVar
WNT10A	Q9GZT5	p.Pro281Thr	RCV000260783	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892858C>A	ClinVar
WNT10A	Q9GZT5	p.Pro281Ala	RCV000280724	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892858C>G	ClinVar
WNT10A	Q9GZT5	p.Pro281Ala	RCV000386136	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892858C>G	ClinVar
WNT10A	Q9GZT5	p.Pro281Thr	RCV000623795	missense variant	Inborn genetic diseases	NC_000002.12:g.218892858C>A	ClinVar
WNT10A	Q9GZT5	p.Pro281Ser	rs541715493	missense variant	-	NC_000002.12:g.218892858C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro281Thr	RCV000315988	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892858C>A	ClinVar
WNT10A	Q9GZT5	p.Pro281Thr	RCV000375200	missense variant	-	NC_000002.12:g.218892858C>A	ClinVar
WNT10A	Q9GZT5	p.Glu282Val	COSM4091551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218892862A>T	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Glu282Gly	rs764418826	missense variant	-	NC_000002.12:g.218892862A>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Glu282Lys	rs763506612	missense variant	-	NC_000002.12:g.218892861G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg284Cys	rs1451736747	missense variant	-	NC_000002.12:g.218892867C>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg284His	rs1187476681	missense variant	-	NC_000002.12:g.218892868G>A	gnomAD
WNT10A	Q9GZT5	p.Val286Met	rs751926200	missense variant	-	NC_000002.12:g.218892873G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Val286Leu	rs751926200	missense variant	-	NC_000002.12:g.218892873G>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ala288Thr	rs757439312	missense variant	-	NC_000002.12:g.218892879G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala288Val	rs1367724990	missense variant	-	NC_000002.12:g.218892880C>T	gnomAD
WNT10A	Q9GZT5	p.Arg291Cys	rs1456297638	missense variant	-	NC_000002.12:g.218892888C>T	gnomAD
WNT10A	Q9GZT5	p.Ser292Gly	rs767665930	missense variant	-	NC_000002.12:g.218892891A>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg293Gly	rs563548971	missense variant	-	NC_000002.12:g.218892894C>G	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg293Cys	rs563548971	missense variant	-	NC_000002.12:g.218892894C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Phe294Leu	rs758566891	missense variant	-	NC_000002.12:g.218892897T>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Phe294Val	rs758566891	missense variant	-	NC_000002.12:g.218892897T>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.His295Leu	rs1346671955	missense variant	-	NC_000002.12:g.218892901A>T	TOPMed
WNT10A	Q9GZT5	p.Arg296His	rs1296699152	missense variant	-	NC_000002.12:g.218892904G>A	gnomAD
WNT10A	Q9GZT5	p.Arg296Cys	rs1230956549	missense variant	-	NC_000002.12:g.218892903C>T	gnomAD
WNT10A	Q9GZT5	p.Ala297Thr	rs530717943	missense variant	-	NC_000002.12:g.218892906G>A	1000Genomes
WNT10A	Q9GZT5	p.Leu299Pro	rs758325341	missense variant	-	NC_000002.12:g.218892913T>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ile300Ter	RCV000677101	frameshift	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892915_218892916del	ClinVar
WNT10A	Q9GZT5	p.Arg301Pro	rs777460453	missense variant	-	NC_000002.12:g.218892919G>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg301Gln	rs777460453	missense variant	-	NC_000002.12:g.218892919G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro302Ter	RCV000686716	frameshift	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892920_218892923del	ClinVar
WNT10A	Q9GZT5	p.Pro302Leu	rs1207590627	missense variant	-	NC_000002.12:g.218892922C>T	gnomAD
WNT10A	Q9GZT5	p.Pro302Thr	rs1057306	missense variant	-	NC_000002.12:g.218892921C>A	UniProt,dbSNP
WNT10A	Q9GZT5	p.Pro302Thr	VAR_013239	missense variant	-	NC_000002.12:g.218892921C>A	UniProt
WNT10A	Q9GZT5	p.Pro302Thr	rs1057306	missense variant	-	NC_000002.12:g.218892921C>A	-
WNT10A	Q9GZT5	p.His303Gln	rs1465954434	missense variant	-	NC_000002.12:g.218892926C>A	gnomAD
WNT10A	Q9GZT5	p.Asn304His	RCV000639737	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892927A>C	ClinVar
WNT10A	Q9GZT5	p.Asn304His	rs1434390821	missense variant	-	NC_000002.12:g.218892927A>C	TOPMed
WNT10A	Q9GZT5	p.Arg305Ser	rs1188846817	missense variant	-	NC_000002.12:g.218892930C>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg305Cys	rs1188846817	missense variant	-	NC_000002.12:g.218892930C>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg305Leu	rs746769946	missense variant	-	NC_000002.12:g.218892931G>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg305His	rs746769946	missense variant	-	NC_000002.12:g.218892931G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asn306Lys	rs745513263	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218892935C>G	UniProt,dbSNP
WNT10A	Q9GZT5	p.Asn306Lys	VAR_069175	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218892935C>G	UniProt
WNT10A	Q9GZT5	p.Asn306Lys	rs745513263	missense variant	-	NC_000002.12:g.218892935C>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asn306His	rs776357775	missense variant	-	NC_000002.12:g.218892933A>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Asn306Lys	RCV000351358	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892935C>G	ClinVar
WNT10A	Q9GZT5	p.Asn306Lys	RCV000296501	missense variant	-	NC_000002.12:g.218892935C>G	ClinVar
WNT10A	Q9GZT5	p.Asn306Lys	RCV000390691	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892935C>G	ClinVar
WNT10A	Q9GZT5	p.Gly307Arg	rs775046543	missense variant	-	NC_000002.12:g.218892936G>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Gly308Cys	rs763413351	missense variant	-	NC_000002.12:g.218892939G>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly308Arg	rs763413351	missense variant	-	NC_000002.12:g.218892939G>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gln309Arg	rs1461989045	missense variant	-	NC_000002.12:g.218892943A>G	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gln309His	rs1020451881	missense variant	-	NC_000002.12:g.218892944G>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Leu310Met	rs1386597388	missense variant	-	NC_000002.12:g.218892945C>A	gnomAD
WNT10A	Q9GZT5	p.Leu310Arg	rs1002615813	missense variant	-	NC_000002.12:g.218892946T>G	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Glu311Asp	rs1348248718	missense variant	-	NC_000002.12:g.218892950G>T	TOPMed
WNT10A	Q9GZT5	p.Glu311Gln	rs769153639	missense variant	-	NC_000002.12:g.218892948G>C	ExAC,TOPMed
WNT10A	Q9GZT5	p.Pro312Gln	rs368546071	missense variant	-	NC_000002.12:g.218892952C>A	TOPMed
WNT10A	Q9GZT5	p.Pro312Thr	rs1278921157	missense variant	-	NC_000002.12:g.218892951C>A	TOPMed
WNT10A	Q9GZT5	p.Pro312Leu	rs368546071	missense variant	-	NC_000002.12:g.218892952C>T	TOPMed
WNT10A	Q9GZT5	p.Pro312Arg	rs368546071	missense variant	-	NC_000002.12:g.218892952C>G	TOPMed
WNT10A	Q9GZT5	p.Gly313Val	rs1378831137	missense variant	-	NC_000002.12:g.218892955G>T	gnomAD
WNT10A	Q9GZT5	p.Gly313Arg	rs1018397067	missense variant	-	NC_000002.12:g.218892954G>C	TOPMed
WNT10A	Q9GZT5	p.Gly313Cys	rs1018397067	missense variant	-	NC_000002.12:g.218892954G>T	TOPMed
WNT10A	Q9GZT5	p.Gly316Arg	rs1336137106	missense variant	-	NC_000002.12:g.218892963G>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala317Thr	rs1228372182	missense variant	-	NC_000002.12:g.218892966G>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala317Ter	RCV000677103	frameshift	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892966del	ClinVar
WNT10A	Q9GZT5	p.Ala317Pro	rs1228372182	missense variant	-	NC_000002.12:g.218892966G>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Pro318Ser	rs1384636913	missense variant	-	NC_000002.12:g.218892969C>T	TOPMed
WNT10A	Q9GZT5	p.Pro318His	rs1157165664	missense variant	-	NC_000002.12:g.218892970C>A	TOPMed
WNT10A	Q9GZT5	p.Ser319Thr	rs1265655476	missense variant	-	NC_000002.12:g.218892972T>A	gnomAD
WNT10A	Q9GZT5	p.Pro320Arg	rs974508350	missense variant	-	NC_000002.12:g.218892976C>G	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala321Ser	rs762111465	missense variant	-	NC_000002.12:g.218892978G>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Gly323Ser	rs1474562928	missense variant	-	NC_000002.12:g.218892984G>A	TOPMed
WNT10A	Q9GZT5	p.Pro325Thr	rs750712776	missense variant	-	NC_000002.12:g.218892990C>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Pro325Leu	rs1183405171	missense variant	-	NC_000002.12:g.218892991C>T	gnomAD
WNT10A	Q9GZT5	p.Pro325Ser	rs750712776	missense variant	-	NC_000002.12:g.218892990C>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Gly326Ala	rs1180513574	missense variant	-	NC_000002.12:g.218892994G>C	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gly326Trp	rs760857889	missense variant	-	NC_000002.12:g.218892993G>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg329Ter	RCV000332548	frameshift	-	NC_000002.12:g.218893002dup	ClinVar
WNT10A	Q9GZT5	p.Arg329Gln	rs777698250	missense variant	-	NC_000002.12:g.218893003G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg330Gln	rs751323479	missense variant	-	NC_000002.12:g.218893006G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg330Leu	rs751323479	missense variant	-	NC_000002.12:g.218893006G>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg330Pro	rs751323479	missense variant	-	NC_000002.12:g.218893006G>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ala331Asp	rs757173906	missense variant	-	NC_000002.12:g.218893009C>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala331Ser	rs1378023533	missense variant	-	NC_000002.12:g.218893008G>T	gnomAD
WNT10A	Q9GZT5	p.Ala334Thr	rs781127466	missense variant	-	NC_000002.12:g.218893017G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ala334Asp	rs1464814673	missense variant	-	NC_000002.12:g.218893018C>A	gnomAD
WNT10A	Q9GZT5	p.Asp335His	rs545956598	missense variant	-	NC_000002.12:g.218893020G>C	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asp335Asn	rs545956598	missense variant	-	NC_000002.12:g.218893020G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asp335Asn	RCV000288085	missense variant	-	NC_000002.12:g.218893020G>A	ClinVar
WNT10A	Q9GZT5	p.Asp335Asn	RCV000347757	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893020G>A	ClinVar
WNT10A	Q9GZT5	p.Asp335Asn	RCV000397812	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218893020G>A	ClinVar
WNT10A	Q9GZT5	p.Tyr338Cys	rs769060275	missense variant	-	NC_000002.12:g.218893030A>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Lys341Asn	rs772468324	missense variant	-	NC_000002.12:g.218893040G>C	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Lys341Asn	rs772468324	missense variant	-	NC_000002.12:g.218893040G>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asp344Glu	rs1310054365	missense variant	-	NC_000002.12:g.218893049C>A	gnomAD
WNT10A	Q9GZT5	p.Phe345Ser	rs1553623335	missense variant	-	NC_000002.12:g.218893051T>C	-
WNT10A	Q9GZT5	p.Phe345Ser	RCV000559209	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893051T>C	ClinVar
WNT10A	Q9GZT5	p.Cys346Arg	rs1280777127	missense variant	-	NC_000002.12:g.218893053T>C	gnomAD
WNT10A	Q9GZT5	p.Glu347Ala	rs1482639912	missense variant	-	NC_000002.12:g.218893057A>C	gnomAD
WNT10A	Q9GZT5	p.Arg348Cys	rs978088338	missense variant	-	NC_000002.12:g.218893059C>T	gnomAD
WNT10A	Q9GZT5	p.Arg348His	rs927135213	missense variant	-	NC_000002.12:g.218893060G>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg348Ser	rs978088338	missense variant	-	NC_000002.12:g.218893059C>A	gnomAD
WNT10A	Q9GZT5	p.Arg348Leu	rs927135213	missense variant	-	NC_000002.12:g.218893060G>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Glu349Lys	rs1304489162	missense variant	-	NC_000002.12:g.218893062G>A	gnomAD
WNT10A	Q9GZT5	p.Pro350Leu	rs564146190	missense variant	-	NC_000002.12:g.218893066C>T	1000Genomes
WNT10A	Q9GZT5	p.Pro350Leu	RCV000260245	missense variant	-	NC_000002.12:g.218893066C>T	ClinVar
WNT10A	Q9GZT5	p.Pro350Leu	RCV000304817	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218893066C>T	ClinVar
WNT10A	Q9GZT5	p.Pro350Leu	RCV000355122	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893066C>T	ClinVar
WNT10A	Q9GZT5	p.Arg351Leu	rs759602106	missense variant	-	NC_000002.12:g.218893069G>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg351His	rs759602106	missense variant	-	NC_000002.12:g.218893069G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg351Cys	rs753867150	missense variant	-	NC_000002.12:g.218893068C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asp353His	rs371998817	missense variant	-	NC_000002.12:g.218893074G>C	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asp353Val	rs757226964	missense variant	-	NC_000002.12:g.218893075A>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Asp353Tyr	rs371998817	missense variant	-	NC_000002.12:g.218893074G>T	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ser354Leu	RCV000273350	missense variant	-	NC_000002.12:g.218893078C>T	ClinVar
WNT10A	Q9GZT5	p.Ser354Leu	RCV000356293	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218893078C>T	ClinVar
WNT10A	Q9GZT5	p.Ser354Leu	rs781178898	missense variant	-	NC_000002.12:g.218893078C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ser354Leu	RCV000320197	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893078C>T	ClinVar
WNT10A	Q9GZT5	p.Ala355Val	rs1443627448	missense variant	-	NC_000002.12:g.218893081C>T	gnomAD
WNT10A	Q9GZT5	p.Gly356Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218893084G>T	NCI-TCGA
WNT10A	Q9GZT5	p.Gly356Cys	VAR_077453	Missense	Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]	-	UniProt
WNT10A	Q9GZT5	p.Thr357Ile	rs750190755	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218893087C>T	UniProt,dbSNP
WNT10A	Q9GZT5	p.Thr357Ile	VAR_077454	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218893087C>T	UniProt
WNT10A	Q9GZT5	p.Thr357Ile	rs750190755	missense variant	-	NC_000002.12:g.218893087C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val358Leu	rs1308808698	missense variant	-	NC_000002.12:g.218893089G>C	gnomAD
WNT10A	Q9GZT5	p.Arg360Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218893095C>T	NCI-TCGA
WNT10A	Q9GZT5	p.Arg360Ser	COSM6157042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218893095C>A	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Arg360Leu	rs893127185	missense variant	-	NC_000002.12:g.218893096G>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg360Cys	VAR_064839	Missense	-	-	UniProt
WNT10A	Q9GZT5	p.Cys362Arg	rs1268725013	missense variant	-	NC_000002.12:g.218893101T>C	TOPMed
WNT10A	Q9GZT5	p.Cys362Arg	RCV000498719	missense variant	-	NC_000002.12:g.218893101T>C	ClinVar
WNT10A	Q9GZT5	p.Asn363His	RCV000845114	missense variant	-	NC_000002.12:g.218893104A>C	ClinVar
WNT10A	Q9GZT5	p.Asn363His	rs34972707	missense variant	-	NC_000002.12:g.218893104A>C	ESP,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ser366Cys	rs1332556693	missense variant	-	NC_000002.12:g.218893113A>T	TOPMed
WNT10A	Q9GZT5	p.Gly368Ser	rs1233970735	missense variant	-	NC_000002.12:g.218893119G>A	TOPMed
WNT10A	Q9GZT5	p.Ser369Leu	rs768281079	missense variant	-	NC_000002.12:g.218893123C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ser369Trp	rs768281079	missense variant	-	NC_000002.12:g.218893123C>G	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Asp370Asn	COSM3577824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218893125G>A	NCI-TCGA Cosmic
WNT10A	Q9GZT5	p.Cys372Arg	rs1487577386	missense variant	-	NC_000002.12:g.218893131T>C	gnomAD
WNT10A	Q9GZT5	p.Cys372Gly	rs1487577386	missense variant	-	NC_000002.12:g.218893131T>G	gnomAD
WNT10A	Q9GZT5	p.Gly373Arg	rs772520906	missense variant	-	NC_000002.12:g.218893134G>C	ExAC,gnomAD
WNT10A	Q9GZT5	p.Gly373Ser	rs772520906	missense variant	-	NC_000002.12:g.218893134G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ser374Asn	rs1449194164	missense variant	-	NC_000002.12:g.218893138G>A	gnomAD
WNT10A	Q9GZT5	p.Met375Lys	rs773598047	missense variant	-	NC_000002.12:g.218893141T>A	ExAC
WNT10A	Q9GZT5	p.Cys376Phe	rs1167077564	missense variant	-	NC_000002.12:g.218893144G>T	gnomAD
WNT10A	Q9GZT5	p.Cys376Ter	rs121908122	stop gained	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218893145C>A	-
WNT10A	Q9GZT5	p.Cys376Ser	rs1167077564	missense variant	-	NC_000002.12:g.218893144G>C	gnomAD
WNT10A	Q9GZT5	p.Cys376Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218893143T>C	NCI-TCGA
WNT10A	Q9GZT5	p.Cys376Ter	RCV000004719	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893145C>A	ClinVar
WNT10A	Q9GZT5	p.Gly378Asp	rs771071398	missense variant	-	NC_000002.12:g.218893150G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg379Cys	rs1347556761	missense variant	-	NC_000002.12:g.218893152C>T	TOPMed,gnomAD
WNT10A	Q9GZT5	p.His381Tyr	rs1326121645	missense variant	-	NC_000002.12:g.218893158C>T	gnomAD
WNT10A	Q9GZT5	p.Asn382Lys	rs759671927	missense variant	-	NC_000002.12:g.218893163C>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Asn382Ser	rs1432508266	missense variant	-	NC_000002.12:g.218893162A>G	gnomAD
WNT10A	Q9GZT5	p.Ile383Ser	rs1339905158	missense variant	-	NC_000002.12:g.218893165T>G	gnomAD
WNT10A	Q9GZT5	p.Leu384Gln	rs1227659859	missense variant	-	NC_000002.12:g.218893168T>A	gnomAD
WNT10A	Q9GZT5	p.Arg385His	rs766438750	missense variant	-	NC_000002.12:g.218893171G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Gln386Ter	rs775685826	stop gained	-	NC_000002.12:g.218893173C>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Gln386Arg	rs1215666473	missense variant	-	NC_000002.12:g.218893174A>G	gnomAD
WNT10A	Q9GZT5	p.Thr387Lys	rs761861061	missense variant	-	NC_000002.12:g.218893177C>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Arg388Cys	rs1186983054	missense variant	-	NC_000002.12:g.218893179C>T	gnomAD
WNT10A	Q9GZT5	p.Arg388Leu	rs1244180506	missense variant	-	NC_000002.12:g.218893180G>T	gnomAD
WNT10A	Q9GZT5	p.Ser389Arg	rs767517592	missense variant	-	NC_000002.12:g.218893184C>G	ExAC,gnomAD
WNT10A	Q9GZT5	p.Ser389Asn	rs1397288018	missense variant	-	NC_000002.12:g.218893183G>A	TOPMed
WNT10A	Q9GZT5	p.Glu390Lys	rs750260671	missense variant	-	NC_000002.12:g.218893185G>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Glu390Ter	RCV000429425	nonsense	-	NC_000002.12:g.218893185G>T	ClinVar
WNT10A	Q9GZT5	p.Glu390Ter	rs750260671	stop gained	-	NC_000002.12:g.218893185G>T	ExAC,gnomAD
WNT10A	Q9GZT5	p.Glu390Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218893185G>C	NCI-TCGA
WNT10A	Q9GZT5	p.Cys392Ter	RCV000677099	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893193C>A	ClinVar
WNT10A	Q9GZT5	p.Cys392Ter	rs1553623389	stop gained	-	NC_000002.12:g.218893193C>A	-
WNT10A	Q9GZT5	p.Cys392Phe	rs1412307290	missense variant	-	NC_000002.12:g.218893192G>T	gnomAD
WNT10A	Q9GZT5	p.His393Pro	rs1406554236	missense variant	-	NC_000002.12:g.218893195A>C	gnomAD
WNT10A	Q9GZT5	p.Cys394Tyr	rs1164977987	missense variant	-	NC_000002.12:g.218893198G>A	gnomAD
WNT10A	Q9GZT5	p.Arg395His	rs766086207	missense variant	-	NC_000002.12:g.218893201G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg395Cys	rs561485190	missense variant	-	NC_000002.12:g.218893200C>T	1000Genomes,ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Arg395Leu	rs766086207	missense variant	-	NC_000002.12:g.218893201G>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Trp398Arg	rs1282315503	missense variant	-	NC_000002.12:g.218893209T>C	gnomAD
WNT10A	Q9GZT5	p.Trp398Ter	rs1381228558	stop gained	-	NC_000002.12:g.218893211G>A	gnomAD
WNT10A	Q9GZT5	p.Cys404Ser	rs754567070	missense variant	-	NC_000002.12:g.218893227T>A	ExAC,gnomAD
WNT10A	Q9GZT5	p.Cys404Trp	RCV000537520	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893229C>G	ClinVar
WNT10A	Q9GZT5	p.Cys404Trp	rs1553623396	missense variant	-	NC_000002.12:g.218893229C>G	-
WNT10A	Q9GZT5	p.Glu406Lys	rs1207000888	missense variant	-	NC_000002.12:g.218893233G>A	gnomAD
WNT10A	Q9GZT5	p.Arg408Cys	rs1447903396	missense variant	-	NC_000002.12:g.218893239C>T	gnomAD
WNT10A	Q9GZT5	p.Arg408Ser	rs1447903396	missense variant	-	NC_000002.12:g.218893239C>A	gnomAD
WNT10A	Q9GZT5	p.Thr410Asn	rs778417803	missense variant	-	NC_000002.12:g.218893246C>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Thr410Ile	rs778417803	missense variant	-	NC_000002.12:g.218893246C>T	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Glu411Lys	rs1236135596	missense variant	-	NC_000002.12:g.218893248G>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Val413Ile	rs747618485	missense variant	-	NC_000002.12:g.218893254G>A	ExAC,TOPMed,gnomAD
WNT10A	Q9GZT5	p.Ser414Asn	rs1410563048	missense variant	-	NC_000002.12:g.218893258G>A	TOPMed,gnomAD
WNT10A	Q9GZT5	p.Cys416Tyr	rs1085308031	missense variant	-	NC_000002.12:g.218893264G>A	-
WNT10A	Q9GZT5	p.Cys416Tyr	RCV000490252	missense variant	-	NC_000002.12:g.218893264G>A	ClinVar
WNT10A	Q9GZT5	p.Lys417Glu	rs1412248276	missense variant	-	NC_000002.12:g.218893266A>G	gnomAD
WNT10A	Q9GZT5	p.Ter418Arg	rs1027367632	stop lost	-	NC_000002.12:g.218893269T>A	TOPMed
NUAK2	Q9H093	p.Glu2Gln	rs368121832	missense variant	-	NC_000001.11:g.205321625C>G	ESP,ExAC,gnomAD
NUAK2	Q9H093	p.Val5Ile	rs752648660	missense variant	-	NC_000001.11:g.205321616C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Ala7Ser	rs1443895459	missense variant	-	NC_000001.11:g.205321610C>A	gnomAD
NUAK2	Q9H093	p.Arg8Trp	rs765071245	missense variant	-	NC_000001.11:g.205321607G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser10Phe	COSM5951298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321600G>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Gly11Ser	rs770737041	missense variant	-	NC_000001.11:g.205321598C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Gly11Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205321598C>G	NCI-TCGA
NUAK2	Q9H093	p.Thr13Pro	rs925368027	missense variant	-	NC_000001.11:g.205321592T>G	TOPMed
NUAK2	Q9H093	p.Pro14Leu	rs573384120	missense variant	-	NC_000001.11:g.205321588G>A	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro14Arg	rs573384120	missense variant	-	NC_000001.11:g.205321588G>C	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro14Ser	rs141798870	missense variant	-	NC_000001.11:g.205321589G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser15Leu	rs1286339754	missense variant	-	NC_000001.11:g.205321585G>A	gnomAD
NUAK2	Q9H093	p.Ser15Leu	rs1286339754	missense variant	-	NC_000001.11:g.205321585G>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Ser15Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205321585G>C	NCI-TCGA
NUAK2	Q9H093	p.Ala16Ser	rs199874037	missense variant	-	NC_000001.11:g.205321583C>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Ala17Pro	COSM6060893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321580C>G	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Ala17Ser	rs1431839347	missense variant	-	NC_000001.11:g.205321580C>A	gnomAD
NUAK2	Q9H093	p.Ala20Val	rs749648290	missense variant	-	NC_000001.11:g.205321570G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Arg21GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.205321568G>-	NCI-TCGA
NUAK2	Q9H093	p.Ala24Val	rs1232067046	missense variant	-	NC_000001.11:g.205321558G>A	gnomAD
NUAK2	Q9H093	p.Glu25Lys	rs1452777286	missense variant	-	NC_000001.11:g.205321556C>T	TOPMed
NUAK2	Q9H093	p.Gly26Arg	COSM3482206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321553C>T	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Gly26Glu	rs553959662	missense variant	-	NC_000001.11:g.205321552C>T	1000Genomes,ExAC
NUAK2	Q9H093	p.Ile28Asn	rs1322860239	missense variant	-	NC_000001.11:g.205321546A>T	gnomAD
NUAK2	Q9H093	p.Ile28Phe	rs781248233	missense variant	-	NC_000001.11:g.205321547T>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro31Ala	rs1292730514	missense variant	-	NC_000001.11:g.205321538G>C	gnomAD
NUAK2	Q9H093	p.Lys32Arg	rs974258050	missense variant	-	NC_000001.11:g.205321534T>C	TOPMed,gnomAD
NUAK2	Q9H093	p.Leu34Val	rs369894001	missense variant	-	NC_000001.11:g.205321529G>C	ESP,TOPMed
NUAK2	Q9H093	p.Met35Thr	rs1015340986	missense variant	-	NC_000001.11:g.205321525A>G	TOPMed
NUAK2	Q9H093	p.Lys37Asn	rs760713380	missense variant	-	NC_000001.11:g.205321518C>A	ExAC,gnomAD
NUAK2	Q9H093	p.Ala39Ser	COSM3789384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321514C>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Val40Met	rs753593899	missense variant	-	NC_000001.11:g.205321511C>T	ExAC,gnomAD
NUAK2	Q9H093	p.His43Tyr	rs760370614	missense variant	-	NC_000001.11:g.205321502G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.His43Asn	rs760370614	missense variant	-	NC_000001.11:g.205321502G>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.His44Asp	rs145871344	missense variant	-	NC_000001.11:g.205321499G>C	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.His44Arg	rs906845965	missense variant	-	NC_000001.11:g.205321498T>C	TOPMed,gnomAD
NUAK2	Q9H093	p.His44Tyr	rs145871344	missense variant	-	NC_000001.11:g.205321499G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.His44Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205321499G>T	NCI-TCGA
NUAK2	Q9H093	p.His45Tyr	COSM1134804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205321496G>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.His45Arg	rs1473373982	missense variant	-	NC_000001.11:g.205321495T>C	gnomAD
NUAK2	Q9H093	p.Lys46Gln	rs767121052	missense variant	-	NC_000001.11:g.205321493T>G	ExAC,gnomAD
NUAK2	Q9H093	p.Leu49Arg	rs1488556621	missense variant	-	NC_000001.11:g.205321483A>C	gnomAD
NUAK2	Q9H093	p.Arg50Trp	rs1273001242	missense variant	-	NC_000001.11:g.205321481G>A	gnomAD
NUAK2	Q9H093	p.Arg50Trp	rs1273001242	missense variant	-	NC_000001.11:g.205321481G>A	NCI-TCGA
NUAK2	Q9H093	p.His51Asn	rs774882765	missense variant	-	NC_000001.11:g.205321478G>T	ExAC,gnomAD
NUAK2	Q9H093	p.His51Gln	rs1208116286	missense variant	-	NC_000001.11:g.205321476G>T	TOPMed
NUAK2	Q9H093	p.Arg52His	rs769068244	missense variant	-	NC_000001.11:g.205321474C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Arg52Ser	rs1229199115	missense variant	-	NC_000001.11:g.205321475G>T	gnomAD
NUAK2	Q9H093	p.Glu54Ter	rs749850850	stop gained	-	NC_000001.11:g.205321469C>A	ExAC,gnomAD
NUAK2	Q9H093	p.Phe55Val	rs761609957	missense variant	-	NC_000001.11:g.205321466A>C	TOPMed,gnomAD
NUAK2	Q9H093	p.Phe55Ile	rs761609957	missense variant	-	NC_000001.11:g.205321466A>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Thr58Ile	rs1268862709	missense variant	-	NC_000001.11:g.205321456G>A	gnomAD
NUAK2	Q9H093	p.Thr63Ile	rs904918812	missense variant	-	NC_000001.11:g.205321441G>A	-
NUAK2	Q9H093	p.Thr63Ile	rs904918812	missense variant	-	NC_000001.11:g.205321441G>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Tyr64Cys	rs1248304468	missense variant	-	NC_000001.11:g.205321438T>C	TOPMed
NUAK2	Q9H093	p.Gly65Arg	rs770212647	missense variant	-	NC_000001.11:g.205321436C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Val67Gly	rs1182213267	missense variant	-	NC_000001.11:g.205321429A>C	TOPMed
NUAK2	Q9H093	p.Lys69Arg	rs746081046	missense variant	-	NC_000001.11:g.205321423T>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Lys69Asn	rs1441716937	missense variant	-	NC_000001.11:g.205321422C>G	TOPMed
NUAK2	Q9H093	p.Ala70Val	rs1287147817	missense variant	-	NC_000001.11:g.205321420G>A	gnomAD
NUAK2	Q9H093	p.Arg71Trp	rs200294284	missense variant	-	NC_000001.11:g.205321418G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu72Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205321413C>G	NCI-TCGA
NUAK2	Q9H093	p.Arg76Cys	rs1426931246	missense variant	-	NC_000001.11:g.205321403G>A	gnomAD
NUAK2	Q9H093	p.Leu77Gln	rs1322690528	missense variant	-	NC_000001.11:g.205321399A>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Val78Leu	rs1368345074	missense variant	-	NC_000001.11:g.205311825C>A	gnomAD
NUAK2	Q9H093	p.Ala79Asp	rs1311760335	missense variant	-	NC_000001.11:g.205311821G>T	gnomAD
NUAK2	Q9H093	p.Ile80Val	rs1273821756	missense variant	-	NC_000001.11:g.205311819T>C	gnomAD
NUAK2	Q9H093	p.Lys81Arg	rs140561355	missense variant	-	NC_000001.11:g.205311815T>C	ESP,ExAC,gnomAD
NUAK2	Q9H093	p.Ile83Thr	COSM1473309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205311809A>G	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg84Gln	rs143710822	missense variant	-	NC_000001.11:g.205311806C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg84Trp	rs369633581	missense variant	-	NC_000001.11:g.205311807G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Lys87Thr	rs773539973	missense variant	-	NC_000001.11:g.205311797T>G	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Lys87Arg	rs773539973	missense variant	-	NC_000001.11:g.205311797T>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ile88Thr	rs771987069	missense variant	-	NC_000001.11:g.205311794A>G	ExAC,gnomAD
NUAK2	Q9H093	p.Glu91Lys	rs1425989897	missense variant	-	NC_000001.11:g.205311786C>T	gnomAD
NUAK2	Q9H093	p.Gln92Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205311782T>C	NCI-TCGA
NUAK2	Q9H093	p.Leu94Pro	rs1248838032	missense variant	-	NC_000001.11:g.205311776A>G	gnomAD
NUAK2	Q9H093	p.Met95Thr	rs535358451	missense variant	-	NC_000001.11:g.205311773A>G	1000Genomes,ExAC,gnomAD
NUAK2	Q9H093	p.Met95Ile	rs780091091	missense variant	-	NC_000001.11:g.205311772C>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ile97Val	rs769834607	missense variant	-	NC_000001.11:g.205311768T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Arg98Trp	rs372631048	missense variant	-	NC_000001.11:g.205311765G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg98Leu	rs140977993	missense variant	-	NC_000001.11:g.205311764C>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg98Gln	rs140977993	missense variant	-	NC_000001.11:g.205311764C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu100Lys	rs1245398075	missense variant	-	NC_000001.11:g.205311759C>T	gnomAD
NUAK2	Q9H093	p.Ile101Thr	rs777489848	missense variant	-	NC_000001.11:g.205311755A>G	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ile103Phe	rs1408861511	missense variant	-	NC_000001.11:g.205311750T>A	gnomAD
NUAK2	Q9H093	p.Met104Leu	rs1350662592	missense variant	-	NC_000001.11:g.205311747T>A	gnomAD
NUAK2	Q9H093	p.Leu107Phe	rs1402628055	missense variant	-	NC_000001.11:g.205311738G>A	gnomAD
NUAK2	Q9H093	p.Asn108Ser	rs752222690	missense variant	-	NC_000001.11:g.205311734T>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro110Leu	COSM3789382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205311728G>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Pro110Ala	rs149940131	missense variant	-	NC_000001.11:g.205311729G>C	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ile112Ser	rs144149898	missense variant	-	NC_000001.11:g.205311722A>C	ESP,ExAC,gnomAD
NUAK2	Q9H093	p.Ile112Phe	rs754408564	missense variant	-	NC_000001.11:g.205311723T>A	ExAC,gnomAD
NUAK2	Q9H093	p.Ile115Val	rs147157875	missense variant	-	NC_000001.11:g.205311714T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.His116Arg	rs773240778	missense variant	-	NC_000001.11:g.205311710T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Ser122Ile	COSM1583942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205308720C>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Ser122Arg	rs1325422287	missense variant	-	NC_000001.11:g.205308719G>C	TOPMed
NUAK2	Q9H093	p.Lys124Gln	rs145449557	missense variant	-	NC_000001.11:g.205308715T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val126SerPheSerTerUnkUnkUnk	COSM1560316	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.205308707_205308710CACG>-	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Val126Met	rs772550918	missense variant	-	NC_000001.11:g.205308709C>T	gnomAD
NUAK2	Q9H093	p.Ile127Ser	rs773026305	missense variant	-	NC_000001.11:g.205308705A>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val128Ile	rs746380943	missense variant	-	NC_000001.11:g.205308703C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val128Ile	rs746380943	missense variant	-	NC_000001.11:g.205308703C>T	NCI-TCGA
NUAK2	Q9H093	p.Glu130Gly	rs1230704768	missense variant	-	NC_000001.11:g.205308696T>C	TOPMed
NUAK2	Q9H093	p.Ser133Asn	rs149625269	missense variant	-	NC_000001.11:g.205308687C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg134Trp	rs115768136	missense variant	-	NC_000001.11:g.205308685G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg134Gln	rs138824143	missense variant	-	NC_000001.11:g.205308684C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gly135Asp	rs371333792	missense variant	-	NC_000001.11:g.205308681C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Gly135Ala	rs371333792	missense variant	-	NC_000001.11:g.205308681C>G	ExAC,gnomAD
NUAK2	Q9H093	p.Asp136Asn	rs767982138	missense variant	-	NC_000001.11:g.205308679C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Leu137Pro	rs764446254	missense variant	-	NC_000001.11:g.205308675A>G	ExAC,gnomAD
NUAK2	Q9H093	p.Leu137Ile	rs200708216	missense variant	-	NC_000001.11:g.205308676G>T	1000Genomes,ExAC,gnomAD
NUAK2	Q9H093	p.Leu137Phe	rs200708216	missense variant	-	NC_000001.11:g.205308676G>A	1000Genomes,ExAC,gnomAD
NUAK2	Q9H093	p.Tyr138Phe	rs1432766317	missense variant	-	NC_000001.11:g.205308672T>A	gnomAD
NUAK2	Q9H093	p.Tyr140Cys	rs949442037	missense variant	-	NC_000001.11:g.205308666T>C	TOPMed,gnomAD
NUAK2	Q9H093	p.Tyr140Asp	rs1052556266	missense variant	-	NC_000001.11:g.205308667A>C	gnomAD
NUAK2	Q9H093	p.Tyr140His	rs1052556266	missense variant	-	NC_000001.11:g.205308667A>G	gnomAD
NUAK2	Q9H093	p.Ser142Gly	rs752796334	missense variant	-	NC_000001.11:g.205308661T>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu143Lys	rs142613609	missense variant	-	NC_000001.11:g.205308658C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg144Trp	rs201895375	missense variant	-	NC_000001.11:g.205308655G>A	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg144Gln	rs761600001	missense variant	-	NC_000001.11:g.205308654C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg144Trp	rs201895375	missense variant	-	NC_000001.11:g.205308655G>A	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Leu147Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205308646G>T	NCI-TCGA
NUAK2	Q9H093	p.Leu147ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.205308627_205308645CTAGCTTCGCGCTCACTGA>-	NCI-TCGA
NUAK2	Q9H093	p.Ser148Gly	rs1313378475	missense variant	-	NC_000001.11:g.205308643T>C	gnomAD
NUAK2	Q9H093	p.Glu149Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205308640C>T	NCI-TCGA
NUAK2	Q9H093	p.Arg150Cys	rs376326465	missense variant	-	NC_000001.11:g.205308637G>A	NCI-TCGA
NUAK2	Q9H093	p.Arg150His	rs558886995	missense variant	-	NC_000001.11:g.205308636C>T	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg150Cys	rs376326465	missense variant	-	NC_000001.11:g.205308637G>A	ESP,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg150His	rs558886995	missense variant	-	NC_000001.11:g.205308636C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu151Lys	rs199544834	missense variant	-	NC_000001.11:g.205308634C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu151Lys	rs199544834	missense variant	-	NC_000001.11:g.205308634C>T	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Ala152Thr	rs1370067847	missense variant	-	NC_000001.11:g.205308631C>T	gnomAD
NUAK2	Q9H093	p.His154Arg	rs769248027	missense variant	-	NC_000001.11:g.205308624T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Phe156Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205308618A>G	NCI-TCGA
NUAK2	Q9H093	p.Arg157Gln	rs369252488	missense variant	-	NC_000001.11:g.205308615C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg157Trp	rs746330381	missense variant	-	NC_000001.11:g.205308616G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val160Phe	rs778335391	missense variant	-	NC_000001.11:g.205308607C>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val160Ile	rs778335391	missense variant	-	NC_000001.11:g.205308607C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser161Cys	rs1236439822	missense variant	-	NC_000001.11:g.205308603G>C	TOPMed,gnomAD
NUAK2	Q9H093	p.Ala162Thr	rs1189238716	missense variant	-	NC_000001.11:g.205308601C>T	gnomAD
NUAK2	Q9H093	p.Val163Met	rs752932851	missense variant	-	NC_000001.11:g.205308598C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val163Met	rs752932851	missense variant	-	NC_000001.11:g.205308598C>T	NCI-TCGA
NUAK2	Q9H093	p.Val163Leu	rs752932851	missense variant	-	NC_000001.11:g.205308598C>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.His164Leu	rs756261319	missense variant	-	NC_000001.11:g.205308594T>A	ExAC,gnomAD
NUAK2	Q9H093	p.His164Arg	rs756261319	missense variant	-	NC_000001.11:g.205308594T>C	ExAC,gnomAD
NUAK2	Q9H093	p.His164Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205308593G>T	NCI-TCGA
NUAK2	Q9H093	p.Tyr165Cys	rs750294930	missense variant	-	NC_000001.11:g.205308591T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Tyr165Ser	rs750294930	missense variant	-	NC_000001.11:g.205308591T>G	ExAC,gnomAD
NUAK2	Q9H093	p.Gln168Arg	rs1288415428	missense variant	-	NC_000001.11:g.205308582T>C	gnomAD
NUAK2	Q9H093	p.Asn169Asp	rs762659144	missense variant	-	NC_000001.11:g.205308230T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Val171Ala	rs764816684	missense variant	-	NC_000001.11:g.205308223A>G	ExAC,gnomAD
NUAK2	Q9H093	p.Arg174Ter	rs376798957	stop gained	-	NC_000001.11:g.205308215G>A	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg174Ter	rs376798957	stop gained	-	NC_000001.11:g.205308215G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg174Gln	rs140270571	missense variant	-	NC_000001.11:g.205308214C>T	ESP,ExAC,gnomAD
NUAK2	Q9H093	p.Leu176Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205308209G>T	NCI-TCGA
NUAK2	Q9H093	p.Asn180Asp	rs747509039	missense variant	-	NC_000001.11:g.205308197T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Asn180Ser	rs773872146	missense variant	-	NC_000001.11:g.205308196T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Leu182Ile	rs772416802	missense variant	-	NC_000001.11:g.205308191G>T	ExAC,gnomAD
NUAK2	Q9H093	p.Ala185Thr	rs1210857447	missense variant	-	NC_000001.11:g.205308182C>T	gnomAD
NUAK2	Q9H093	p.Asn186Lys	rs984442224	missense variant	-	NC_000001.11:g.205308177A>T	gnomAD
NUAK2	Q9H093	p.Ile189Val	rs150528650	missense variant	-	NC_000001.11:g.205308170T>C	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Lys190Asn	rs1369802503	missense variant	-	NC_000001.11:g.205308165C>A	gnomAD
NUAK2	Q9H093	p.Ile191Met	rs754837282	missense variant	-	NC_000001.11:g.205306305A>C	ExAC,gnomAD
NUAK2	Q9H093	p.Ile191Thr	rs1422487391	missense variant	-	NC_000001.11:g.205306306A>G	gnomAD
NUAK2	Q9H093	p.Ile191Asn	rs1422487391	missense variant	-	NC_000001.11:g.205306306A>T	gnomAD
NUAK2	Q9H093	p.Ala192Asp	rs1182690438	missense variant	-	NC_000001.11:g.205306303G>T	gnomAD
NUAK2	Q9H093	p.Gly195Ser	rs749723966	missense variant	-	NC_000001.11:g.205306295C>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Ser197Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205306288G>C	NCI-TCGA
NUAK2	Q9H093	p.Asn198Ser	rs114209340	missense variant	-	NC_000001.11:g.205306285T>C	1000Genomes
NUAK2	Q9H093	p.Asn198Lys	rs749879707	missense variant	-	NC_000001.11:g.205306284G>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Asn198Tyr	rs1476380603	missense variant	-	NC_000001.11:g.205306286T>A	TOPMed
NUAK2	Q9H093	p.Asn198Ser	rs114209340	missense variant	-	NC_000001.11:g.205306285T>C	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.His201Gln	COSM3803609	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205306275A>C	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Gln202Glu	COSM4834459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205306274G>C	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Gly203Asp	rs767094886	missense variant	-	NC_000001.11:g.205306270C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Phe205Leu	rs762212449	missense variant	-	NC_000001.11:g.205306265A>G	ExAC,gnomAD
NUAK2	Q9H093	p.Thr208Lys	COSM1134803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205306255G>T	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Ser212Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205306243C>G	NCI-TCGA
NUAK2	Q9H093	p.Pro213Leu	rs1028002344	missense variant	-	NC_000001.11:g.205306240G>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Pro213Ser	rs1311698752	missense variant	-	NC_000001.11:g.205306241G>A	gnomAD
NUAK2	Q9H093	p.Ala216Ser	rs1356913165	missense variant	-	NC_000001.11:g.205306232C>A	gnomAD
NUAK2	Q9H093	p.Ala216Val	rs1165947766	missense variant	-	NC_000001.11:g.205306231G>A	TOPMed
NUAK2	Q9H093	p.Ser217Leu	rs370192004	missense variant	-	NC_000001.11:g.205306228G>A	NCI-TCGA
NUAK2	Q9H093	p.Ser217Leu	rs370192004	missense variant	-	NC_000001.11:g.205306228G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro218Ser	rs1370612691	missense variant	-	NC_000001.11:g.205306226G>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Ile220Thr	rs1300457625	missense variant	-	NC_000001.11:g.205306219A>G	gnomAD
NUAK2	Q9H093	p.Val221Phe	COSM1473307	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205306217C>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Asn222Ser	rs763336598	missense variant	-	NC_000001.11:g.205306213T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Asn222Ser	rs763336598	missense variant	-	NC_000001.11:g.205306213T>C	NCI-TCGA
NUAK2	Q9H093	p.Asn222Tyr	rs150757729	missense variant	-	NC_000001.11:g.205306214T>A	ESP,TOPMed,gnomAD
NUAK2	Q9H093	p.Gly223Arg	rs775639072	missense variant	-	NC_000001.11:g.205306211C>G	ExAC,gnomAD
NUAK2	Q9H093	p.Gly223Glu	rs1476313902	missense variant	-	NC_000001.11:g.205306210C>T	gnomAD
NUAK2	Q9H093	p.Tyr226Asn	rs1410123518	missense variant	-	NC_000001.11:g.205306202A>T	gnomAD
NUAK2	Q9H093	p.Asp232Asn	rs1469682131	missense variant	-	NC_000001.11:g.205305328C>T	gnomAD
NUAK2	Q9H093	p.Ser233Ile	rs1265965272	missense variant	-	NC_000001.11:g.205305324C>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Gly237Val	COSM1473306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205305312C>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Val238Ile	rs1044569655	missense variant	-	NC_000001.11:g.205305310C>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Leu239Phe	rs1261973927	missense variant	-	NC_000001.11:g.205305307G>A	gnomAD
NUAK2	Q9H093	p.Leu240Phe	rs770852638	missense variant	-	NC_000001.11:g.205305304G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Met248Val	rs1363505670	missense variant	-	NC_000001.11:g.205305280T>C	gnomAD
NUAK2	Q9H093	p.Pro249Ser	rs199839354	missense variant	-	NC_000001.11:g.205305277G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro249Ala	rs199839354	missense variant	-	NC_000001.11:g.205305277G>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Asp251Val	rs1345776458	missense variant	-	NC_000001.11:g.205305270T>A	TOPMed
NUAK2	Q9H093	p.Asp254Gly	COSM3984654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205305261T>C	NCI-TCGA Cosmic
NUAK2	Q9H093	p.His255Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205305258T>A	NCI-TCGA
NUAK2	Q9H093	p.Leu258Pro	rs779992365	missense variant	-	NC_000001.11:g.205305249A>G	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser263Gly	rs755949981	missense variant	-	NC_000001.11:g.205305235T>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser263Thr	rs1202817538	missense variant	-	NC_000001.11:g.205305234C>G	TOPMed
NUAK2	Q9H093	p.Asn264Asp	rs1231978677	missense variant	-	NC_000001.11:g.205305232T>C	TOPMed
NUAK2	Q9H093	p.Gly265Arg	rs780926337	missense variant	-	NC_000001.11:g.205305229C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Gly265Arg	rs780926337	missense variant	-	NC_000001.11:g.205305229C>T	NCI-TCGA
NUAK2	Q9H093	p.Arg268Gln	rs751055138	missense variant	-	NC_000001.11:g.205305219C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Arg268Trp	rs202048409	missense variant	-	NC_000001.11:g.205305220G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu269Val	rs763631824	missense variant	-	NC_000001.11:g.205305216T>A	ExAC,gnomAD
NUAK2	Q9H093	p.Pro270Ser	rs775887109	missense variant	-	NC_000001.11:g.205305214G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Asp275Tyr	rs191805468	missense variant	-	NC_000001.11:g.205305199C>A	1000Genomes
NUAK2	Q9H093	p.Ala276Gly	rs1010363052	missense variant	-	NC_000001.11:g.205304510G>C	TOPMed
NUAK2	Q9H093	p.Gly278Ser	rs777247819	missense variant	-	NC_000001.11:g.205304505C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Arg281Leu	rs765807541	missense variant	-	NC_000001.11:g.205304495C>A	NCI-TCGA
NUAK2	Q9H093	p.Arg281Trp	rs757921296	missense variant	-	NC_000001.11:g.205304496G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg281Leu	rs765807541	missense variant	-	NC_000001.11:g.205304495C>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg281Gln	rs765807541	missense variant	-	NC_000001.11:g.205304495C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Leu284Phe	rs1408139403	missense variant	-	NC_000001.11:g.205304485C>A	gnomAD
NUAK2	Q9H093	p.Met285Ile	rs1370005952	missense variant	-	NC_000001.11:g.205304482C>G	TOPMed,gnomAD
NUAK2	Q9H093	p.Val286Leu	rs1307389449	missense variant	-	NC_000001.11:g.205304481C>G	gnomAD
NUAK2	Q9H093	p.Val286Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205304481C>T	NCI-TCGA
NUAK2	Q9H093	p.Thr289Ser	rs1331565863	missense variant	-	NC_000001.11:g.205304472T>A	TOPMed
NUAK2	Q9H093	p.Arg290Ser	rs766695858	missense variant	-	NC_000001.11:g.205304469G>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg290Cys	rs766695858	missense variant	-	NC_000001.11:g.205304469G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg290His	rs760947538	missense variant	-	NC_000001.11:g.205304468C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg291Trp	rs773627133	missense variant	-	NC_000001.11:g.205304466G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Arg291Gln	rs1418214622	missense variant	-	NC_000001.11:g.205304465C>T	gnomAD
NUAK2	Q9H093	p.Leu294Val	rs767637960	missense variant	-	NC_000001.11:g.205304457G>C	ExAC,gnomAD
NUAK2	Q9H093	p.Val297Leu	rs1187361511	missense variant	-	NC_000001.11:g.205304448C>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Ser299Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205304441C>A	NCI-TCGA
NUAK2	Q9H093	p.Trp301Ter	rs1209687157	stop gained	-	NC_000001.11:g.205304435C>T	gnomAD
NUAK2	Q9H093	p.Asn304Thr	rs1459146734	missense variant	-	NC_000001.11:g.205304426T>G	TOPMed
NUAK2	Q9H093	p.Trp305Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.205304422C>T	NCI-TCGA
NUAK2	Q9H093	p.Gly306Ser	rs1295402757	missense variant	-	NC_000001.11:g.205304421C>T	gnomAD
NUAK2	Q9H093	p.Ala308Thr	rs770685148	missense variant	-	NC_000001.11:g.205304415C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Thr309Pro	rs55745939	missense variant	-	NC_000001.11:g.205304412T>G	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Thr309Ser	rs55745939	missense variant	-	NC_000001.11:g.205304412T>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg310Ter	rs777411761	stop gained	-	NC_000001.11:g.205304409G>A	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg310Gln	rs200627742	missense variant	-	NC_000001.11:g.205304408C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg310Ter	rs777411761	stop gained	-	NC_000001.11:g.205304409G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg310Gln	rs200627742	missense variant	-	NC_000001.11:g.205304408C>T	NCI-TCGA
NUAK2	Q9H093	p.Arg310Leu	rs200627742	missense variant	-	NC_000001.11:g.205304408C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val311Met	rs778338600	missense variant	-	NC_000001.11:g.205304406C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu315Asp	rs1410595658	missense variant	-	NC_000001.11:g.205304392C>A	gnomAD
NUAK2	Q9H093	p.Ala316Ser	rs1046761331	missense variant	-	NC_000001.11:g.205304391C>A	gnomAD
NUAK2	Q9H093	p.Ala316Pro	rs1046761331	missense variant	-	NC_000001.11:g.205304391C>G	gnomAD
NUAK2	Q9H093	p.Pro317Leu	rs374937005	missense variant	-	NC_000001.11:g.205304387G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gly320Arg	rs1198746899	missense variant	-	NC_000001.11:g.205304379C>G	TOPMed,gnomAD
NUAK2	Q9H093	p.Gly320Ser	rs1198746899	missense variant	-	NC_000001.11:g.205304379C>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Gly321Arg	rs1293331228	missense variant	-	NC_000001.11:g.205304376C>T	TOPMed
NUAK2	Q9H093	p.Gly321Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205304376C>A	NCI-TCGA
NUAK2	Q9H093	p.His322Gln	rs375831502	missense variant	-	NC_000001.11:g.205304371G>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser327LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.205304358A>-	NCI-TCGA
NUAK2	Q9H093	p.Ala328Val	rs762173822	missense variant	-	NC_000001.11:g.205304354G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Arg329Pro	rs374096584	missense variant	-	NC_000001.11:g.205304351C>G	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg329Cys	rs756878231	missense variant	-	NC_000001.11:g.205304352G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Arg329Leu	rs374096584	missense variant	-	NC_000001.11:g.205304351C>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg329His	rs374096584	missense variant	-	NC_000001.11:g.205304351C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ala330Thr	rs770689673	missense variant	-	NC_000001.11:g.205304349C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Met332Ile	rs1371484094	missense variant	-	NC_000001.11:g.205304341C>T	gnomAD
NUAK2	Q9H093	p.Met332Ile	rs1371484094	missense variant	-	NC_000001.11:g.205304341C>A	gnomAD
NUAK2	Q9H093	p.Asp334Tyr	rs771694167	missense variant	-	NC_000001.11:g.205304337C>A	ExAC,gnomAD
NUAK2	Q9H093	p.Leu336Val	rs1265007144	missense variant	-	NC_000001.11:g.205304331G>C	TOPMed
NUAK2	Q9H093	p.Arg337Trp	rs200343978	missense variant	-	NC_000001.11:g.205304328G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg337Gln	rs368815457	missense variant	-	NC_000001.11:g.205304327C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg338Ser	rs1159362081	missense variant	-	NC_000001.11:g.205304325G>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Arg338His	rs768109551	missense variant	-	NC_000001.11:g.205304324C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg338Cys	rs1159362081	missense variant	-	NC_000001.11:g.205304325G>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Ser339Phe	rs749746384	missense variant	-	NC_000001.11:g.205304321G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Arg341Cys	rs756497760	missense variant	-	NC_000001.11:g.205304316G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg341His	rs35208615	missense variant	-	NC_000001.11:g.205304315C>T	gnomAD
NUAK2	Q9H093	p.Arg341Leu	rs35208615	missense variant	-	NC_000001.11:g.205304315C>A	UniProt,dbSNP
NUAK2	Q9H093	p.Arg341Leu	VAR_040965	missense variant	-	NC_000001.11:g.205304315C>A	UniProt
NUAK2	Q9H093	p.Arg341Ser	rs756497760	missense variant	-	NC_000001.11:g.205304316G>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg341Leu	rs35208615	missense variant	-	NC_000001.11:g.205304315C>A	gnomAD
NUAK2	Q9H093	p.Pro342Leu	COSM3482198	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205304312G>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Leu343SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.205304310G>-	NCI-TCGA
NUAK2	Q9H093	p.Glu345Lys	rs200604571	missense variant	-	NC_000001.11:g.205304304C>T	1000Genomes,ESP,TOPMed,gnomAD
NUAK2	Q9H093	p.Cys351Ter	rs1368821890	stop gained	-	NC_000001.11:g.205304284G>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Cys351Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205304285C>A	NCI-TCGA
NUAK2	Q9H093	p.Ser352Cys	rs1277940635	missense variant	-	NC_000001.11:g.205304283T>A	gnomAD
NUAK2	Q9H093	p.Phe353Leu	rs761100265	missense variant	-	NC_000001.11:g.205304280A>G	TOPMed
NUAK2	Q9H093	p.Phe353Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205304278G>T	NCI-TCGA
NUAK2	Q9H093	p.Phe354Leu	rs557570213	missense variant	-	NC_000001.11:g.205304277A>G	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gln356Glu	rs1305530292	missense variant	-	NC_000001.11:g.205304271G>C	gnomAD
NUAK2	Q9H093	p.Gln356His	rs1432705698	missense variant	-	NC_000001.11:g.205304269C>A	gnomAD
NUAK2	Q9H093	p.Ala358Val	rs1360983431	missense variant	-	NC_000001.11:g.205304264G>A	gnomAD
NUAK2	Q9H093	p.Pro359Thr	rs764172834	missense variant	-	NC_000001.11:g.205304262G>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro359Ala	rs764172834	missense variant	-	NC_000001.11:g.205304262G>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gly360Ala	rs1356955034	missense variant	-	NC_000001.11:g.205304258C>G	gnomAD
NUAK2	Q9H093	p.Gly361Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205304255C>A	NCI-TCGA
NUAK2	Q9H093	p.Gly362Arg	rs915910375	missense variant	-	NC_000001.11:g.205304253C>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Gly362Glu	rs1397511532	missense variant	-	NC_000001.11:g.205304252C>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Ser363Arg	rs753771780	missense variant	-	NC_000001.11:g.205304248G>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Thr365Ile	rs1231752902	missense variant	-	NC_000001.11:g.205304243G>A	TOPMed
NUAK2	Q9H093	p.Pro366His	rs539524885	missense variant	-	NC_000001.11:g.205304240G>T	1000Genomes,ExAC,gnomAD
NUAK2	Q9H093	p.Gly367Val	rs1167422827	missense variant	-	NC_000001.11:g.205304237C>A	gnomAD
NUAK2	Q9H093	p.Leu368Pro	rs771923120	missense variant	-	NC_000001.11:g.205304234A>G	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu369Gly	rs1236977352	missense variant	-	NC_000001.11:g.205304231T>C	gnomAD
NUAK2	Q9H093	p.Arg370His	rs773889103	missense variant	-	NC_000001.11:g.205304228C>T	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg370Cys	rs571070763	missense variant	-	NC_000001.11:g.205304229G>A	NCI-TCGA
NUAK2	Q9H093	p.Arg370His	rs773889103	missense variant	-	NC_000001.11:g.205304228C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg370Cys	rs571070763	missense variant	-	NC_000001.11:g.205304229G>A	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gln371Ter	rs1282447044	stop gained	-	NC_000001.11:g.205304226G>A	gnomAD
NUAK2	Q9H093	p.Ser373Ter	rs768146177	stop gained	-	NC_000001.11:g.205304219G>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser373Leu	rs768146177	missense variant	-	NC_000001.11:g.205304219G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser373Leu	rs768146177	missense variant	-	NC_000001.11:g.205304219G>A	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Lys376Glu	rs775114171	missense variant	-	NC_000001.11:g.205304211T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Ser377Tyr	COSM1473305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205304207G>T	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg378Cys	rs770391840	missense variant	-	NC_000001.11:g.205304205G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Arg378His	rs746442433	missense variant	-	NC_000001.11:g.205304204C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Asn381Thr	rs1414932167	missense variant	-	NC_000001.11:g.205304195T>G	gnomAD
NUAK2	Q9H093	p.Asp382Glu	rs1376722471	missense variant	-	NC_000001.11:g.205304191G>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Met383Val	rs1186795236	missense variant	-	NC_000001.11:g.205304190T>C	TOPMed
NUAK2	Q9H093	p.Ala384Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205304187C>T	NCI-TCGA
NUAK2	Q9H093	p.Gln385Ter	rs1306764369	stop gained	-	NC_000001.11:g.205304184G>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Gln385Lys	rs1306764369	missense variant	-	NC_000001.11:g.205304184G>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Leu387Phe	rs757705183	missense variant	-	NC_000001.11:g.205304178G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Thr391Met	rs142260932	missense variant	-	NC_000001.11:g.205304165G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ala392Val	rs114143639	missense variant	-	NC_000001.11:g.205304162G>A	1000Genomes,ExAC,gnomAD
NUAK2	Q9H093	p.Ala392Thr	rs758458776	missense variant	-	NC_000001.11:g.205304163C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ala392Thr	rs758458776	missense variant	-	NC_000001.11:g.205304163C>T	NCI-TCGA
NUAK2	Q9H093	p.Thr395Ala	rs1249659636	missense variant	-	NC_000001.11:g.205304154T>C	gnomAD
NUAK2	Q9H093	p.Thr395Pro	rs1249659636	missense variant	-	NC_000001.11:g.205304154T>G	gnomAD
NUAK2	Q9H093	p.Thr395Ile	rs756041655	missense variant	-	NC_000001.11:g.205304153G>A	ExAC,gnomAD
NUAK2	Q9H093	p.His397Arg	rs1007714460	missense variant	-	NC_000001.11:g.205304147T>C	TOPMed,gnomAD
NUAK2	Q9H093	p.Arg398Cys	rs767244934	missense variant	-	NC_000001.11:g.205304145G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg398His	rs761519348	missense variant	-	NC_000001.11:g.205304144C>T	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg398Leu	rs761519348	missense variant	-	NC_000001.11:g.205304144C>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg398His	rs761519348	missense variant	-	NC_000001.11:g.205304144C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg398Gly	rs767244934	missense variant	-	NC_000001.11:g.205304145G>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro399Ser	rs202220849	missense variant	-	NC_000001.11:g.205304142G>A	1000Genomes,ExAC,gnomAD
NUAK2	Q9H093	p.Ser402Arg	rs762706092	missense variant	-	NC_000001.11:g.205304131G>C	ExAC,gnomAD
NUAK2	Q9H093	p.Leu404Phe	rs1285840267	missense variant	-	NC_000001.11:g.205304127G>A	gnomAD
NUAK2	Q9H093	p.Leu406Pro	rs769483608	missense variant	-	NC_000001.11:g.205304120A>G	ExAC,gnomAD
NUAK2	Q9H093	p.Gly409Ser	rs746315442	missense variant	-	NC_000001.11:g.205304112C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Gly409Asp	rs777279650	missense variant	-	NC_000001.11:g.205304111C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Ile410Thr	rs771379151	missense variant	-	NC_000001.11:g.205304108A>G	ExAC
NUAK2	Q9H093	p.Ala419Val	rs1181094893	missense variant	-	NC_000001.11:g.205304081G>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Ala419Thr	rs1409867978	missense variant	-	NC_000001.11:g.205304082C>T	gnomAD
NUAK2	Q9H093	p.Glu420Gln	rs1419744394	missense variant	-	NC_000001.11:g.205304079C>G	TOPMed,gnomAD
NUAK2	Q9H093	p.Gly421Trp	rs1251234250	missense variant	-	NC_000001.11:g.205304076C>A	gnomAD
NUAK2	Q9H093	p.Gly421Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205304075C>G	NCI-TCGA
NUAK2	Q9H093	p.Glu424Gln	rs758521841	missense variant	-	NC_000001.11:g.205304067C>G	ExAC,gnomAD
NUAK2	Q9H093	p.Glu424Lys	COSM1689703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205304067C>T	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Pro426Arg	rs1254323843	missense variant	-	NC_000001.11:g.205304060G>C	gnomAD
NUAK2	Q9H093	p.Pro427Leu	rs748472624	missense variant	-	NC_000001.11:g.205304057G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro427Leu	rs748472624	missense variant	-	NC_000001.11:g.205304057G>A	NCI-TCGA
NUAK2	Q9H093	p.Leu429Phe	rs755064279	missense variant	-	NC_000001.11:g.205304052G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Leu429Arg	rs763469795	missense variant	-	NC_000001.11:g.205304051A>C	ExAC,gnomAD
NUAK2	Q9H093	p.Ser430Thr	COSM4835068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205304048C>G	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Ile432Thr	rs1265840309	missense variant	-	NC_000001.11:g.205304042A>G	gnomAD
NUAK2	Q9H093	p.Ala434Val	rs1335809900	missense variant	-	NC_000001.11:g.205304036G>A	gnomAD
NUAK2	Q9H093	p.Ala434Thr	rs1237716381	missense variant	-	NC_000001.11:g.205304037C>T	TOPMed
NUAK2	Q9H093	p.Gly437Val	rs1175115243	missense variant	-	NC_000001.11:g.205304027C>A	TOPMed
NUAK2	Q9H093	p.Ala439Asp	rs1237096987	missense variant	-	NC_000001.11:g.205304021G>T	TOPMed
NUAK2	Q9H093	p.Pro441Ser	rs751278534	missense variant	-	NC_000001.11:g.205304016G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Pro441Leu	rs1439714467	missense variant	-	NC_000001.11:g.205304015G>A	TOPMed
NUAK2	Q9H093	p.Leu442Met	rs898234522	missense variant	-	NC_000001.11:g.205304013G>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Pro444Ser	rs146153134	missense variant	-	NC_000001.11:g.205304007G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gly447Asp	rs191742026	missense variant	-	NC_000001.11:g.205303997C>T	1000Genomes
NUAK2	Q9H093	p.Gly447Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205303998C>T	NCI-TCGA
NUAK2	Q9H093	p.Leu449Pro	rs371065495	missense variant	-	NC_000001.11:g.205303991A>G	ESP,TOPMed,gnomAD
NUAK2	Q9H093	p.Leu449Arg	rs371065495	missense variant	-	NC_000001.11:g.205303991A>C	ESP,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro452Leu	COSM2215151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303982G>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg453Gln	rs148090503	missense variant	-	NC_000001.11:g.205303979C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg455Cys	rs771322956	missense variant	-	NC_000001.11:g.205303974G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg455His	rs1259287966	missense variant	-	NC_000001.11:g.205303973C>T	gnomAD
NUAK2	Q9H093	p.Glu456Lys	rs773447815	missense variant	-	NC_000001.11:g.205303971C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Tyr459Ter	rs748260917	stop gained	-	NC_000001.11:g.205303960G>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Tyr459Cys	rs772547027	missense variant	-	NC_000001.11:g.205303961T>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser461Tyr	rs779114491	missense variant	-	NC_000001.11:g.205303955G>T	ExAC,gnomAD
NUAK2	Q9H093	p.Ser461Phe	rs779114491	missense variant	-	NC_000001.11:g.205303955G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Glu464Lys	rs1363445242	missense variant	-	NC_000001.11:g.205303947C>T	NCI-TCGA
NUAK2	Q9H093	p.Glu464Lys	rs1363445242	missense variant	-	NC_000001.11:g.205303947C>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Pro465Ser	rs1317958527	missense variant	-	NC_000001.11:g.205303944G>A	gnomAD
NUAK2	Q9H093	p.Ser466Cys	rs373278563	missense variant	-	NC_000001.11:g.205303941T>A	TOPMed
NUAK2	Q9H093	p.Ser468Phe	rs759960920	missense variant	-	NC_000001.11:g.205303934G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser468Tyr	rs759960920	missense variant	-	NC_000001.11:g.205303934G>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu470Ter	rs751572460	stop gained	-	NC_000001.11:g.205303929C>A	ExAC,gnomAD
NUAK2	Q9H093	p.Leu471Pro	rs1394459345	missense variant	-	NC_000001.11:g.205303925A>G	gnomAD
NUAK2	Q9H093	p.Leu472Ser	rs150379055	missense variant	-	NC_000001.11:g.205303922A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Asp473Tyr	rs758213146	missense variant	-	NC_000001.11:g.205303920C>A	ExAC,gnomAD
NUAK2	Q9H093	p.Ala474Thr	rs114625804	missense variant	-	NC_000001.11:g.205303917C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gly475Val	rs759313540	missense variant	-	NC_000001.11:g.205303913C>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Asp476Asn	rs375016446	missense variant	-	NC_000001.11:g.205303911C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val477Met	rs762199327	missense variant	-	NC_000001.11:g.205303908C>T	NCI-TCGA
NUAK2	Q9H093	p.Val477Leu	rs762199327	missense variant	-	NC_000001.11:g.205303908C>G	ExAC,gnomAD
NUAK2	Q9H093	p.Val477Met	rs762199327	missense variant	-	NC_000001.11:g.205303908C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Gly481Arg	rs1250778397	missense variant	-	NC_000001.11:g.205303896C>T	gnomAD
NUAK2	Q9H093	p.Asp482Val	rs371958492	missense variant	-	NC_000001.11:g.205303892T>A	ESP,ExAC,gnomAD
NUAK2	Q9H093	p.Asp482Gly	rs371958492	missense variant	-	NC_000001.11:g.205303892T>C	ESP,ExAC,gnomAD
NUAK2	Q9H093	p.Pro483Arg	rs953103668	missense variant	-	NC_000001.11:g.205303889G>C	TOPMed
NUAK2	Q9H093	p.Lys484Arg	rs1328486379	missense variant	-	NC_000001.11:g.205303886T>C	TOPMed,gnomAD
NUAK2	Q9H093	p.Glu485Lys	rs1182887357	missense variant	-	NC_000001.11:g.205303884C>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Pro488Thr	rs368670365	missense variant	-	NC_000001.11:g.205303875G>T	ESP,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro489Leu	rs779985165	missense variant	-	NC_000001.11:g.205303871G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro489Ser	rs749577201	missense variant	-	NC_000001.11:g.205303872G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Pro489Arg	rs779985165	missense variant	-	NC_000001.11:g.205303871G>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ala491Val	rs1167038163	missense variant	-	NC_000001.11:g.205303865G>A	gnomAD
NUAK2	Q9H093	p.Leu494Pro	rs777793992	missense variant	-	NC_000001.11:g.205303856A>G	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Leu496Phe	rs752515472	missense variant	-	NC_000001.11:g.205303851G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Leu496Phe	rs752515472	missense variant	-	NC_000001.11:g.205303851G>A	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.His497Arg	rs778895302	missense variant	-	NC_000001.11:g.205303847T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Arg498His	rs753606733	missense variant	-	NC_000001.11:g.205303844C>T	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg498Cys	rs143749181	missense variant	-	NC_000001.11:g.205303845G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg498Cys	rs143749181	missense variant	-	NC_000001.11:g.205303845G>A	NCI-TCGA
NUAK2	Q9H093	p.Arg498His	rs753606733	missense variant	-	NC_000001.11:g.205303844C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gly500Ala	rs188594405	missense variant	-	NC_000001.11:g.205303838C>G	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Leu502Pro	rs1346013901	missense variant	-	NC_000001.11:g.205303832A>G	TOPMed,gnomAD
NUAK2	Q9H093	p.Lys503Arg	rs1271546767	missense variant	-	NC_000001.11:g.205303829T>C	gnomAD
NUAK2	Q9H093	p.Lys503Asn	rs750856889	missense variant	-	NC_000001.11:g.205303828T>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Leu504Pro	rs199964632	missense variant	-	NC_000001.11:g.205303826A>G	1000Genomes,ExAC,gnomAD
NUAK2	Q9H093	p.Asn505Ser	rs1478294910	missense variant	-	NC_000001.11:g.205303823T>C	TOPMed
NUAK2	Q9H093	p.Gly506Ser	rs139426041	missense variant	-	NC_000001.11:g.205303821C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gly506Asp	rs557595396	missense variant	-	NC_000001.11:g.205303820C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Lys507Arg	rs764500789	missense variant	-	NC_000001.11:g.205303817T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Lys507Asn	rs906473153	missense variant	-	NC_000001.11:g.205303816C>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Lys507Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205303817T>G	NCI-TCGA
NUAK2	Q9H093	p.Phe508Leu	rs373376675	missense variant	-	NC_000001.11:g.205303813G>T	ESP,ExAC,gnomAD
NUAK2	Q9H093	p.Gln510His	rs1352072873	missense variant	-	NC_000001.11:g.205303807C>G	TOPMed
NUAK2	Q9H093	p.Thr511Lys	rs775781067	missense variant	-	NC_000001.11:g.205303805G>T	ExAC,gnomAD
NUAK2	Q9H093	p.Thr511Ile	rs775781067	missense variant	-	NC_000001.11:g.205303805G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Ala512Asp	rs1429208628	missense variant	-	NC_000001.11:g.205303802G>T	TOPMed
NUAK2	Q9H093	p.Leu513Phe	rs1106201	missense variant	-	NC_000001.11:g.205303798C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Leu513Met	rs769717383	missense variant	-	NC_000001.11:g.205303800A>T	ExAC,gnomAD
NUAK2	Q9H093	p.Leu515Pro	rs1189371753	missense variant	-	NC_000001.11:g.205303793A>G	gnomAD
NUAK2	Q9H093	p.Ala516Val	rs35070935	missense variant	-	NC_000001.11:g.205303790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ala516Thr	rs568637332	missense variant	-	NC_000001.11:g.205303791C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro518Ala	rs1439948275	missense variant	-	NC_000001.11:g.205303785G>C	gnomAD
NUAK2	Q9H093	p.Pro518Ser	rs1439948275	missense variant	-	NC_000001.11:g.205303785G>A	gnomAD
NUAK2	Q9H093	p.Thr519Asn	rs749927931	missense variant	-	NC_000001.11:g.205303781G>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Thr519Ile	rs749927931	missense variant	-	NC_000001.11:g.205303781G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Thr520Asn	rs767001389	missense variant	-	NC_000001.11:g.205303778G>T	ExAC,gnomAD
NUAK2	Q9H093	p.Thr520Ile	rs767001389	missense variant	-	NC_000001.11:g.205303778G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Gly522Ser	rs116631538	missense variant	-	NC_000001.11:g.205303773C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Asp525Asn	COSM1146140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303764C>T	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Glu526Lys	rs1278930053	missense variant	-	NC_000001.11:g.205303761C>T	gnomAD
NUAK2	Q9H093	p.Ala528Asp	rs753584463	missense variant	-	NC_000001.11:g.205303754G>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ala528Thr	rs574001744	missense variant	-	NC_000001.11:g.205303755C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ala528Ser	rs574001744	missense variant	-	NC_000001.11:g.205303755C>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro530Ser	rs1455310074	missense variant	-	NC_000001.11:g.205303749G>A	gnomAD
NUAK2	Q9H093	p.Arg531Cys	rs532473739	missense variant	-	NC_000001.11:g.205303746G>A	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg531His	rs1166613159	missense variant	-	NC_000001.11:g.205303745C>T	gnomAD
NUAK2	Q9H093	p.Ala534Val	COSM3864242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303736G>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg535Gln	rs563402132	missense variant	-	NC_000001.11:g.205303733C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg535Pro	COSM1146139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303733C>G	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg535Trp	rs201458532	missense variant	-	NC_000001.11:g.205303734G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ala536Val	rs768533126	missense variant	-	NC_000001.11:g.205303730G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Ser537Asn	rs779764589	missense variant	-	NC_000001.11:g.205303727C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg538Gln	rs549855734	missense variant	-	NC_000001.11:g.205303724C>T	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg538Ter	rs755785724	stop gained	-	NC_000001.11:g.205303725G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Gly541Arg	rs756764505	missense variant	-	NC_000001.11:g.205303716C>T	ExAC,gnomAD
NUAK2	Q9H093	p.Gly541Glu	VAR_040968	Missense	-	-	UniProt
NUAK2	Q9H093	p.Ala542Thr	rs146441542	missense variant	-	NC_000001.11:g.205303713C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu545Gln	rs765590770	missense variant	-	NC_000001.11:g.205303704C>G	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu545Lys	rs765590770	missense variant	-	NC_000001.11:g.205303704C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Asp546Glu	rs376539362	missense variant	-	NC_000001.11:g.205303699G>T	NCI-TCGA
NUAK2	Q9H093	p.Asp546Glu	rs376539362	missense variant	-	NC_000001.11:g.205303699G>T	-
NUAK2	Q9H093	p.Ser547Arg	COSM6124028	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303696G>T	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Ile548Thr	rs1286566751	missense variant	-	NC_000001.11:g.205303694A>G	TOPMed
NUAK2	Q9H093	p.Ile548ThrGlyAla	NCI-TCGA novel	insertion	-	NC_000001.11:g.205303693_205303694insGCGCCTGTA	NCI-TCGA
NUAK2	Q9H093	p.Ile548LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.205303695_205303696insCCCAGCTACTAGGGAGGCTGAG	NCI-TCGA
NUAK2	Q9H093	p.Leu549Pro	rs1207104936	missense variant	-	NC_000001.11:g.205303691A>G	gnomAD
NUAK2	Q9H093	p.Glu552Lys	rs970229455	missense variant	-	NC_000001.11:g.205303683C>T	TOPMed
NUAK2	Q9H093	p.Glu552Lys	rs970229455	missense variant	-	NC_000001.11:g.205303683C>T	NCI-TCGA
NUAK2	Q9H093	p.Glu552Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205303682T>A	NCI-TCGA
NUAK2	Q9H093	p.Asp555Tyr	COSM1133290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303674C>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Gln556Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.205303671G>A	NCI-TCGA
NUAK2	Q9H093	p.Asp558Val	rs774383116	missense variant	-	NC_000001.11:g.205303664T>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Asp558Asn	rs1442098352	missense variant	-	NC_000001.11:g.205303665C>T	TOPMed
NUAK2	Q9H093	p.Glu561Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.205303656C>T	NCI-TCGA
NUAK2	Q9H093	p.Arg562Trp	rs141334646	missense variant	-	NC_000001.11:g.205303653G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg562Gln	rs142942069	missense variant	-	NC_000001.11:g.205303652C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Pro566Ser	rs775339532	missense variant	-	NC_000001.11:g.205303641G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Pro567Gln	rs1381434196	missense variant	-	NC_000001.11:g.205303637G>T	TOPMed
NUAK2	Q9H093	p.Arg569Gln	rs745457075	missense variant	-	NC_000001.11:g.205303631C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg569Trp	rs561905076	missense variant	-	NC_000001.11:g.205303632G>A	1000Genomes,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg569Trp	rs561905076	missense variant	-	NC_000001.11:g.205303632G>A	NCI-TCGA,NCI-TCGA Cosmic
NUAK2	Q9H093	p.Gly570Cys	rs769695007	missense variant	-	NC_000001.11:g.205303629C>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gly570Val	rs1348348437	missense variant	-	NC_000001.11:g.205303628C>A	gnomAD
NUAK2	Q9H093	p.Gly570Ala	rs1348348437	missense variant	-	NC_000001.11:g.205303628C>G	gnomAD
NUAK2	Q9H093	p.Asp575Asn	rs770374086	missense variant	-	NC_000001.11:g.205303614C>T	ExAC
NUAK2	Q9H093	p.Asn576Ser	rs904663970	missense variant	-	NC_000001.11:g.205303610T>C	gnomAD
NUAK2	Q9H093	p.Leu577Pro	rs746496473	missense variant	-	NC_000001.11:g.205303607A>G	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Thr578Met	rs148583611	missense variant	-	NC_000001.11:g.205303604G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Thr578Ala	rs777301287	missense variant	-	NC_000001.11:g.205303605T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Leu580Phe	rs41264879	missense variant	-	NC_000001.11:g.205303599G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu581Asp	rs41264877	missense variant	-	NC_000001.11:g.205303594C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Glu582Gln	rs561167028	missense variant	-	NC_000001.11:g.205303593C>G	ExAC,gnomAD
NUAK2	Q9H093	p.Pro583Ser	rs767762521	missense variant	-	NC_000001.11:g.205303590G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Pro584His	rs762888540	missense variant	-	NC_000001.11:g.205303586G>T	ExAC,gnomAD
NUAK2	Q9H093	p.Pro588Ser	rs775292969	missense variant	-	NC_000001.11:g.205303575G>A	ExAC,gnomAD
NUAK2	Q9H093	p.Pro588Thr	rs775292969	missense variant	-	NC_000001.11:g.205303575G>T	ExAC,gnomAD
NUAK2	Q9H093	p.Arg594His	rs1257682991	missense variant	-	NC_000001.11:g.205303556C>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Arg594Gly	rs377410685	missense variant	-	NC_000001.11:g.205303557G>C	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg594Cys	rs377410685	missense variant	-	NC_000001.11:g.205303557G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg596Gln	rs777254096	missense variant	-	NC_000001.11:g.205303550C>T	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg596Trp	rs373396807	missense variant	-	NC_000001.11:g.205303551G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg596Gly	rs373396807	missense variant	-	NC_000001.11:g.205303551G>C	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Asp598His	COSM4915156	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303545C>G	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Asp602Asn	rs1353049118	missense variant	-	NC_000001.11:g.205303533C>T	TOPMed,gnomAD
NUAK2	Q9H093	p.Asp602Val	rs748625665	missense variant	-	NC_000001.11:g.205303532T>A	ExAC,gnomAD
NUAK2	Q9H093	p.Asp602Gly	rs748625665	missense variant	-	NC_000001.11:g.205303532T>C	ExAC,gnomAD
NUAK2	Q9H093	p.Ser603Asn	rs185137222	missense variant	-	NC_000001.11:g.205303529C>T	1000Genomes
NUAK2	Q9H093	p.Cys604Tyr	COSM1134802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303526C>T	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Leu607Pro	rs1415944578	missense variant	-	NC_000001.11:g.205303517A>G	gnomAD
NUAK2	Q9H093	p.Leu607Pro	rs1415944578	missense variant	-	NC_000001.11:g.205303517A>G	NCI-TCGA
NUAK2	Q9H093	p.Leu607Ter	NCI-TCGA novel	frameshift	-	NC_000001.11:g.205303518G>-	NCI-TCGA
NUAK2	Q9H093	p.Thr608Arg	rs1397614584	missense variant	-	NC_000001.11:g.205303514G>C	TOPMed
NUAK2	Q9H093	p.Asp609Gly	rs1382052454	missense variant	-	NC_000001.11:g.205303511T>C	gnomAD
NUAK2	Q9H093	p.Cys610Phe	rs1296947026	missense variant	-	NC_000001.11:g.205303508C>A	TOPMed,gnomAD
NUAK2	Q9H093	p.Glu612Ter	rs755321335	stop gained	-	NC_000001.11:g.205303503C>A	ExAC,gnomAD
NUAK2	Q9H093	p.Val613Glu	rs1460016774	missense variant	-	NC_000001.11:g.205303499A>T	gnomAD
NUAK2	Q9H093	p.Ala615Val	rs749649226	missense variant	-	NC_000001.11:g.205303493G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Thr616Ile	COSM3482180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.205303490G>A	NCI-TCGA Cosmic
NUAK2	Q9H093	p.Arg618Gln	rs141288763	missense variant	-	NC_000001.11:g.205303484C>T	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg618Leu	rs141288763	missense variant	-	NC_000001.11:g.205303484C>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Arg618Ter	rs138419867	stop gained	-	NC_000001.11:g.205303485G>A	ESP,ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Gln619Glu	rs1480205589	missense variant	-	NC_000001.11:g.205303482G>C	gnomAD
NUAK2	Q9H093	p.Gln619Leu	rs781143703	missense variant	-	NC_000001.11:g.205303481T>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val623Gly	rs759555031	missense variant	-	NC_000001.11:g.205303469A>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Val623Phe	rs1332129669	missense variant	-	NC_000001.11:g.205303470C>A	gnomAD
NUAK2	Q9H093	p.Ser625Ter	rs369833173	stop gained	-	NC_000001.11:g.205303463G>C	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Ser625Leu	rs369833173	missense variant	-	NC_000001.11:g.205303463G>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Lys626Asn	rs766216690	missense variant	-	NC_000001.11:g.205303459C>A	ExAC,TOPMed,gnomAD
NUAK2	Q9H093	p.Leu627Pro	rs760265360	missense variant	-	NC_000001.11:g.205303457A>G	ExAC,gnomAD
NUAK2	Q9H093	p.Ter629Gly	rs1450299604	stop lost	-	NC_000001.11:g.205303452A>C	gnomAD
CRISPLD2	Q9H0B8	p.Ser2Arg	rs761897209	missense variant	-	NC_000016.10:g.84838501C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Cys3Arg	rs767752138	missense variant	-	NC_000016.10:g.84838502T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Val4Ile	rs750608727	missense variant	-	NC_000016.10:g.84838505G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Leu5Pro	rs1246528021	missense variant	-	NC_000016.10:g.84838509T>C	gnomAD
CRISPLD2	Q9H0B8	p.Pro10Leu	rs1437734188	missense variant	-	NC_000016.10:g.84838524C>T	gnomAD
CRISPLD2	Q9H0B8	p.Pro10Ser	COSM704523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84838523C>T	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Gly12Trp	rs755939119	missense variant	-	NC_000016.10:g.84838529G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Leu13Arg	rs1313173839	missense variant	-	NC_000016.10:g.84838533T>G	TOPMed
CRISPLD2	Q9H0B8	p.Leu13Met	rs766010932	missense variant	-	NC_000016.10:g.84838532C>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Leu14Arg	rs1278289948	missense variant	-	NC_000016.10:g.84838536T>G	TOPMed
CRISPLD2	Q9H0B8	p.Val17Gly	rs1395574123	missense variant	-	NC_000016.10:g.84838545T>G	gnomAD
CRISPLD2	Q9H0B8	p.Cys18Gly	rs1405873290	missense variant	-	NC_000016.10:g.84838547T>G	gnomAD
CRISPLD2	Q9H0B8	p.Cys18Ser	rs1320701492	missense variant	-	NC_000016.10:g.84838548G>C	TOPMed
CRISPLD2	Q9H0B8	p.Gly19Arg	rs778841679	missense variant	-	NC_000016.10:g.84838550G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser20Pro	rs757875800	missense variant	-	NC_000016.10:g.84838553T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser20Phe	COSM3889100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84838554C>T	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Gly22Asp	rs147872508	missense variant	-	NC_000016.10:g.84838560G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly22Ala	rs147872508	missense variant	-	NC_000016.10:g.84838560G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Leu25Gln	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84838569T>A	NCI-TCGA
CRISPLD2	Q9H0B8	p.Pro26Leu	rs141769268	missense variant	-	NC_000016.10:g.84838572C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro26Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84838572C>G	NCI-TCGA
CRISPLD2	Q9H0B8	p.Asn27Ser	rs775994375	missense variant	-	NC_000016.10:g.84838575A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asn27Lys	rs139901174	missense variant	-	NC_000016.10:g.84838576C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val28Ile	rs541302905	missense variant	-	NC_000016.10:g.84838577G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu33Lys	rs1191379626	missense variant	-	NC_000016.10:g.84838592G>A	gnomAD
CRISPLD2	Q9H0B8	p.Leu34Pro	rs1171262842	missense variant	-	NC_000016.10:g.84838596T>C	TOPMed
CRISPLD2	Q9H0B8	p.Leu35Phe	rs1473008847	missense variant	-	NC_000016.10:g.84838598C>T	gnomAD
CRISPLD2	Q9H0B8	p.Ser36Arg	rs147841355	missense variant	-	NC_000016.10:g.84838601A>C	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser36Gly	rs147841355	missense variant	-	NC_000016.10:g.84838601A>G	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr38Cys	rs1036189956	missense variant	-	NC_000016.10:g.84838608A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr38Ter	rs760870426	stop gained	-	NC_000016.10:g.84838609C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Gln39Ter	rs1202233353	stop gained	-	NC_000016.10:g.84838610C>T	TOPMed
CRISPLD2	Q9H0B8	p.His40Pro	rs1380165384	missense variant	-	NC_000016.10:g.84838614A>C	gnomAD
CRISPLD2	Q9H0B8	p.Asn41Lys	rs753577527	missense variant	-	NC_000016.10:g.84838618C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu42Gln	rs146258520	missense variant	-	NC_000016.10:g.84838619G>C	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu42Asp	rs765107752	missense variant	-	NC_000016.10:g.84838621G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Glu42Lys	rs146258520	missense variant	-	NC_000016.10:g.84838619G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu42Ala	rs570628920	missense variant	-	NC_000016.10:g.84838620A>C	TOPMed
CRISPLD2	Q9H0B8	p.Ser43Phe	rs201798041	missense variant	-	NC_000016.10:g.84838623C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser43Cys	rs201798041	missense variant	-	NC_000016.10:g.84838623C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.His44Gln	rs746726440	missense variant	-	NC_000016.10:g.84838627C>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.His44Asn	rs777408980	missense variant	-	NC_000016.10:g.84838625C>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.His44Tyr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84838625C>T	NCI-TCGA
CRISPLD2	Q9H0B8	p.Arg46Gln	rs780937131	missense variant	-	NC_000016.10:g.84838632G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg46Pro	rs780937131	missense variant	-	NC_000016.10:g.84838632G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg46Trp	rs1203552951	missense variant	-	NC_000016.10:g.84838631C>T	gnomAD
CRISPLD2	Q9H0B8	p.Arg46Leu	rs780937131	missense variant	-	NC_000016.10:g.84838632G>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val47Leu	rs569603671	missense variant	-	NC_000016.10:g.84838634G>C	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Val47Ile	rs569603671	missense variant	-	NC_000016.10:g.84838634G>A	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Arg48Cys	rs200281033	missense variant	-	NC_000016.10:g.84838637C>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg48His	rs373176982	missense variant	-	NC_000016.10:g.84838638G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg48Leu	rs373176982	missense variant	-	NC_000016.10:g.84838638G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg49Ser	rs1364956372	missense variant	-	NC_000016.10:g.84838642A>C	gnomAD
CRISPLD2	Q9H0B8	p.Ile51Asn	rs1451011538	missense variant	-	NC_000016.10:g.84838647T>A	gnomAD
CRISPLD2	Q9H0B8	p.Pro52Arg	rs148905802	missense variant	-	NC_000016.10:g.84838650C>G	ESP,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro52Thr	rs192527000	missense variant	-	NC_000016.10:g.84838649C>A	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg53Met	rs906789199	missense variant	-	NC_000016.10:g.84838653G>T	TOPMed
CRISPLD2	Q9H0B8	p.Arg53Ser	rs773272524	missense variant	-	NC_000016.10:g.84838654G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Glu54Lys	rs1167088388	missense variant	-	NC_000016.10:g.84838655G>A	TOPMed
CRISPLD2	Q9H0B8	p.Asp55His	rs760678386	missense variant	-	NC_000016.10:g.84838658G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp55Tyr	rs760678386	missense variant	-	NC_000016.10:g.84838658G>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp55Glu	rs1354023388	missense variant	-	NC_000016.10:g.84838660C>G	gnomAD
CRISPLD2	Q9H0B8	p.Asp55Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84838658G>A	NCI-TCGA
CRISPLD2	Q9H0B8	p.Lys56Arg	rs771152904	missense variant	-	NC_000016.10:g.84838662A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys56Glu	rs1414706887	missense variant	-	NC_000016.10:g.84838661A>G	gnomAD
CRISPLD2	Q9H0B8	p.Glu57Gln	rs143526344	missense variant	-	NC_000016.10:g.84838664G>C	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu57Lys	rs143526344	missense variant	-	NC_000016.10:g.84838664G>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu58Lys	rs1239115398	missense variant	-	NC_000016.10:g.84838667G>A	TOPMed
CRISPLD2	Q9H0B8	p.Met61Arg	rs759279809	missense variant	-	NC_000016.10:g.84838677T>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met61Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84838678G>T	NCI-TCGA
CRISPLD2	Q9H0B8	p.Leu62Val	rs765050757	missense variant	-	NC_000016.10:g.84838679C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Lys65Gln	rs762980753	missense variant	-	NC_000016.10:g.84838688A>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Leu66Pro	rs958202366	missense variant	-	NC_000016.10:g.84838692T>C	TOPMed
CRISPLD2	Q9H0B8	p.Arg67Trp	rs1485224519	missense variant	-	NC_000016.10:g.84838694C>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg67Gln	rs764058047	missense variant	-	NC_000016.10:g.84838695G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly68Cys	rs138134389	missense variant	-	NC_000016.10:g.84838697G>T	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly68Ser	rs138134389	missense variant	-	NC_000016.10:g.84838697G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gln69His	rs750062740	missense variant	-	NC_000016.10:g.84838702G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Val70Leu	rs1436186938	missense variant	-	NC_000016.10:g.84838703G>T	gnomAD
CRISPLD2	Q9H0B8	p.Gln71Arg	rs1171444844	missense variant	-	NC_000016.10:g.84838707A>G	gnomAD
CRISPLD2	Q9H0B8	p.Gln73Leu	rs1299217390	missense variant	-	NC_000016.10:g.84838713A>T	gnomAD
CRISPLD2	Q9H0B8	p.Gln73His	COSM974467	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84838714G>T	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Ala74Ser	rs1376119814	missense variant	-	NC_000016.10:g.84838715G>T	gnomAD
CRISPLD2	Q9H0B8	p.Ala74Gly	rs779319056	missense variant	-	NC_000016.10:g.84838716C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser75Ala	rs748718132	missense variant	-	NC_000016.10:g.84838718T>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asn76Asp	rs201061137	missense variant	-	NC_000016.10:g.84838721A>G	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met77Leu	rs778192795	missense variant	-	NC_000016.10:g.84838724A>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Glu78Asp	rs747113042	missense variant	-	NC_000016.10:g.84838729G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met80Thr	rs1346852793	missense variant	-	NC_000016.10:g.84838734T>C	gnomAD
CRISPLD2	Q9H0B8	p.Glu85Lys	rs1198429295	missense variant	-	NC_000016.10:g.84845798G>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys88Arg	rs1166063631	missense variant	-	NC_000016.10:g.84845808A>G	gnomAD
CRISPLD2	Q9H0B8	p.Ser89Pro	rs754175411	missense variant	-	NC_000016.10:g.84845810T>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser89Thr	rs754175411	missense variant	-	NC_000016.10:g.84845810T>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser89Cys	rs779222420	missense variant	-	NC_000016.10:g.84845811C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ala91Val	rs150996650	missense variant	-	NC_000016.10:g.84845817C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala92Val	rs140773433	missense variant	-	NC_000016.10:g.84845820C>T	1000Genomes,ESP,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Trp93Arg	rs1433381480	missense variant	-	NC_000016.10:g.84845822T>C	gnomAD
CRISPLD2	Q9H0B8	p.Ala94Asp	rs1490708545	missense variant	-	NC_000016.10:g.84845826C>A	TOPMed
CRISPLD2	Q9H0B8	p.Ser95Gly	rs1477822627	missense variant	-	NC_000016.10:g.84845828A>G	gnomAD
CRISPLD2	Q9H0B8	p.Gln96His	rs770486357	missense variant	-	NC_000016.10:g.84845833G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Trp99Cys	rs893338158	missense variant	-	NC_000016.10:g.84845842G>T	TOPMed
CRISPLD2	Q9H0B8	p.Glu100Asp	rs776123537	missense variant	-	NC_000016.10:g.84845845G>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.His101Tyr	rs758987906	missense variant	-	NC_000016.10:g.84845846C>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Gly102Arg	rs867948726	missense variant	-	NC_000016.10:g.84845849G>C	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly102Arg	rs867948726	missense variant	-	NC_000016.10:g.84845849G>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro103His	rs1262750364	missense variant	-	NC_000016.10:g.84845853C>A	gnomAD
CRISPLD2	Q9H0B8	p.Pro103Ala	rs1368420158	missense variant	-	NC_000016.10:g.84845852C>G	TOPMed
CRISPLD2	Q9H0B8	p.Thr104Ile	rs762274836	missense variant	-	NC_000016.10:g.84845856C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr104Ser	rs762274836	missense variant	-	NC_000016.10:g.84845856C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr104Pro	rs774963282	missense variant	-	NC_000016.10:g.84845855A>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser105Gly	rs12051468	missense variant	-	NC_000016.10:g.84845858A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser105Gly	rs12051468	missense variant	-	NC_000016.10:g.84845858A>G	UniProt,dbSNP
CRISPLD2	Q9H0B8	p.Ser105Gly	VAR_027256	missense variant	-	NC_000016.10:g.84845858A>G	UniProt
CRISPLD2	Q9H0B8	p.Leu106Val	rs930896733	missense variant	-	NC_000016.10:g.84845861C>G	gnomAD
CRISPLD2	Q9H0B8	p.Leu107Gln	rs1351980707	missense variant	-	NC_000016.10:g.84845865T>A	gnomAD
CRISPLD2	Q9H0B8	p.Leu107Met	rs1457017738	missense variant	-	NC_000016.10:g.84845864C>A	gnomAD
CRISPLD2	Q9H0B8	p.Val108Ala	rs766930703	missense variant	-	NC_000016.10:g.84845868T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser109Phe	rs1386634034	missense variant	-	NC_000016.10:g.84845871C>T	gnomAD
CRISPLD2	Q9H0B8	p.Ile110Val	rs1047946196	missense variant	-	NC_000016.10:g.84845873A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ile110Met	rs567461246	missense variant	-	NC_000016.10:g.84845875C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ile110Leu	rs1047946196	missense variant	-	NC_000016.10:g.84845873A>C	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly111Arg	rs779312224	missense variant	-	NC_000016.10:g.84845876G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gln112Glu	rs758264200	missense variant	-	NC_000016.10:g.84845879C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asn113Ser	rs777418530	missense variant	-	NC_000016.10:g.84845883A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Gly115Val	rs1303006206	missense variant	-	NC_000016.10:g.84845889G>T	gnomAD
CRISPLD2	Q9H0B8	p.Ala116Thr	rs1203623828	missense variant	-	NC_000016.10:g.84845891G>A	gnomAD
CRISPLD2	Q9H0B8	p.Arg120Lys	rs745412278	missense variant	-	NC_000016.10:g.84845904G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg120Ser	rs777328564	missense variant	-	NC_000016.10:g.84849385G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Tyr121Cys	rs760108981	missense variant	-	NC_000016.10:g.84849387A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Arg122His	rs775437927	missense variant	-	NC_000016.10:g.84849390G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg122Cys	rs765424522	missense variant	-	NC_000016.10:g.84849389C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser123Phe	rs751747915	missense variant	-	NC_000016.10:g.84849393C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro124Leu	rs531695495	missense variant	-	NC_000016.10:g.84849396C>T	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro124Ala	rs1293006248	missense variant	-	NC_000016.10:g.84849395C>G	TOPMed
CRISPLD2	Q9H0B8	p.Pro124Gln	rs531695495	missense variant	-	NC_000016.10:g.84849396C>A	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Gly125Arg	rs1253102995	missense variant	-	NC_000016.10:g.84849398G>A	gnomAD
CRISPLD2	Q9H0B8	p.Gly125Val	rs756045553	missense variant	-	NC_000016.10:g.84849399G>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly125Glu	rs756045553	missense variant	-	NC_000016.10:g.84849399G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Phe126Leu	rs1361632221	missense variant	-	NC_000016.10:g.84849401T>C	gnomAD
CRISPLD2	Q9H0B8	p.His127Tyr	rs779980635	missense variant	-	NC_000016.10:g.84849404C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.His127Arg	rs748774112	missense variant	-	NC_000016.10:g.84849405A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gln129Ter	rs1464540842	stop gained	-	NC_000016.10:g.84849410C>T	gnomAD
CRISPLD2	Q9H0B8	p.Ser130Cys	rs1169987345	missense variant	-	NC_000016.10:g.84849414C>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser130Phe	rs1169987345	missense variant	-	NC_000016.10:g.84849414C>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr132His	rs747782464	missense variant	-	NC_000016.10:g.84849419T>C	ExAC
CRISPLD2	Q9H0B8	p.Asp133Glu	rs146382941	missense variant	-	NC_000016.10:g.84849424C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp133Glu	rs146382941	missense variant	-	NC_000016.10:g.84849424C>A	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp133Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84849423A>T	NCI-TCGA
CRISPLD2	Q9H0B8	p.Glu134Ter	rs1048164869	stop gained	-	NC_000016.10:g.84849425G>T	TOPMed
CRISPLD2	Q9H0B8	p.Glu134Lys	rs1048164869	missense variant	-	NC_000016.10:g.84849425G>A	TOPMed
CRISPLD2	Q9H0B8	p.Val135Met	rs973911233	missense variant	-	NC_000016.10:g.84849428G>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val135Leu	rs973911233	missense variant	-	NC_000016.10:g.84849428G>C	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys136Glu	rs1366613428	missense variant	-	NC_000016.10:g.84849431A>G	gnomAD
CRISPLD2	Q9H0B8	p.Asp137Ala	rs1297496215	missense variant	-	NC_000016.10:g.84849435A>C	gnomAD
CRISPLD2	Q9H0B8	p.Asp137Gly	rs1297496215	missense variant	-	NC_000016.10:g.84849435A>G	UniProt,dbSNP
CRISPLD2	Q9H0B8	p.Asp137Gly	VAR_074672	missense variant	-	NC_000016.10:g.84849435A>G	UniProt
CRISPLD2	Q9H0B8	p.Asp137Gly	rs1297496215	missense variant	-	NC_000016.10:g.84849435A>G	gnomAD
CRISPLD2	Q9H0B8	p.Thr139Asn	rs770225087	missense variant	-	NC_000016.10:g.84849441C>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Tyr140Cys	rs199977606	missense variant	-	NC_000016.10:g.84849444A>G	1000Genomes
CRISPLD2	Q9H0B8	p.Tyr140His	rs368401038	missense variant	-	NC_000016.10:g.84849443T>C	ESP,TOPMed
CRISPLD2	Q9H0B8	p.Pro141Ser	rs1273191970	missense variant	-	NC_000016.10:g.84849446C>T	gnomAD
CRISPLD2	Q9H0B8	p.Pro141Leu	rs145249439	missense variant	-	NC_000016.10:g.84849447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro141His	rs145249439	missense variant	-	NC_000016.10:g.84849447C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr142Phe	rs764209964	missense variant	-	NC_000016.10:g.84849450A>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr142Ter	rs1245813711	stop gained	-	NC_000016.10:g.84849451C>G	gnomAD
CRISPLD2	Q9H0B8	p.Pro143Thr	rs372363505	missense variant	-	NC_000016.10:g.84849452C>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro143Arg	rs750229143	missense variant	-	NC_000016.10:g.84849453C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro143Leu	rs750229143	missense variant	-	NC_000016.10:g.84849453C>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro143Ser	rs372363505	missense variant	-	NC_000016.10:g.84849452C>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro143Ala	rs372363505	missense variant	-	NC_000016.10:g.84849452C>G	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser144Arg	rs138500867	missense variant	-	NC_000016.10:g.84849457C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser144Asn	rs1477090902	missense variant	-	NC_000016.10:g.84849456G>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu145Gln	rs377296604	missense variant	-	NC_000016.10:g.84849458G>C	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu145Lys	rs377296604	missense variant	-	NC_000016.10:g.84849458G>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu145Ter	rs377296604	stop gained	-	NC_000016.10:g.84849458G>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu145Asp	rs777510550	missense variant	-	NC_000016.10:g.84849460G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Cys146Gly	rs1162907615	missense variant	-	NC_000016.10:g.84849461T>G	gnomAD
CRISPLD2	Q9H0B8	p.Cys146Arg	rs1162907615	missense variant	-	NC_000016.10:g.84849461T>C	gnomAD
CRISPLD2	Q9H0B8	p.Asn147His	rs149652155	missense variant	-	NC_000016.10:g.84849464A>C	ESP,TOPMed
CRISPLD2	Q9H0B8	p.Asn147Ser	rs746266269	missense variant	-	NC_000016.10:g.84849465A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Trp149Ser	rs780473680	missense variant	-	NC_000016.10:g.84849471G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro151Leu	rs1283452990	missense variant	-	NC_000016.10:g.84849477C>T	TOPMed
CRISPLD2	Q9H0B8	p.Glu152Gly	rs949995417	missense variant	-	NC_000016.10:g.84849480A>G	TOPMed
CRISPLD2	Q9H0B8	p.Glu152Asp	rs1401256139	missense variant	-	NC_000016.10:g.84849481G>C	TOPMed
CRISPLD2	Q9H0B8	p.Glu152Ala	rs949995417	missense variant	-	NC_000016.10:g.84849480A>C	TOPMed
CRISPLD2	Q9H0B8	p.Glu152Lys	rs1404144209	missense variant	-	NC_000016.10:g.84849479G>A	TOPMed
CRISPLD2	Q9H0B8	p.Arg153Gly	rs749787415	missense variant	-	NC_000016.10:g.84849482A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly156Val	rs761818985	missense variant	-	NC_000016.10:g.84849492G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro157Thr	rs527475737	missense variant	-	NC_000016.10:g.84849494C>A	gnomAD
CRISPLD2	Q9H0B8	p.Pro157Ser	rs527475737	missense variant	-	NC_000016.10:g.84849494C>T	gnomAD
CRISPLD2	Q9H0B8	p.Thr160Met	rs200626683	missense variant	-	NC_000016.10:g.84849504C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr160Pro	rs200222373	missense variant	-	NC_000016.10:g.84849503A>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.His161Arg	rs753780800	missense variant	-	NC_000016.10:g.84849507A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.His161Gln	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84849508C>A	NCI-TCGA
CRISPLD2	Q9H0B8	p.Thr163Ser	rs759515960	missense variant	-	NC_000016.10:g.84849512A>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gln164Arg	rs1216492030	missense variant	-	NC_000016.10:g.84849516A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val166Ala	rs1200556723	missense variant	-	NC_000016.10:g.84850572T>C	gnomAD
CRISPLD2	Q9H0B8	p.Trp167Ser	rs199497599	missense variant	-	NC_000016.10:g.84850575G>C	1000Genomes
CRISPLD2	Q9H0B8	p.Trp167Cys	rs769688566	missense variant	-	NC_000016.10:g.84850576G>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ala168Thr	rs775626498	missense variant	-	NC_000016.10:g.84850577G>A	ExAC
CRISPLD2	Q9H0B8	p.Ala168Val	rs1280091250	missense variant	-	NC_000016.10:g.84850578C>T	gnomAD
CRISPLD2	Q9H0B8	p.Thr169Ala	rs1476948268	missense variant	-	NC_000016.10:g.84850580A>G	gnomAD
CRISPLD2	Q9H0B8	p.Thr170Ser	COSM2155153	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84850583A>T	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Asn171Lys	rs1041555756	missense variant	-	NC_000016.10:g.84850588C>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asn171Thr	rs773922119	missense variant	-	NC_000016.10:g.84850587A>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys172Gln	rs1398922014	missense variant	-	NC_000016.10:g.84850589A>C	gnomAD
CRISPLD2	Q9H0B8	p.Gly174Ser	rs767227669	missense variant	-	NC_000016.10:g.84850595G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Cys175Phe	rs750016537	missense variant	-	NC_000016.10:g.84850599G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Val177Gly	rs765577582	missense variant	-	NC_000016.10:g.84850605T>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asn178Ser	COSM4912153	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84850608A>G	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Thr179Ser	rs143085896	missense variant	-	NC_000016.10:g.84850611C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg181Pro	rs368719942	missense variant	-	NC_000016.10:g.84850617G>C	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg181Leu	rs368719942	missense variant	-	NC_000016.10:g.84850617G>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg181Trp	rs1221014824	missense variant	-	NC_000016.10:g.84850616C>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg181Gln	rs368719942	missense variant	-	NC_000016.10:g.84850617G>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met183Lys	rs747136317	missense variant	-	NC_000016.10:g.84850623T>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Met183Thr	rs747136317	missense variant	-	NC_000016.10:g.84850623T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Met183Ile	rs757246124	missense variant	-	NC_000016.10:g.84850624G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met183Ile	rs757246124	missense variant	-	NC_000016.10:g.84850624G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val185Leu	rs781524453	missense variant	-	NC_000016.10:g.84850628G>C	ExAC,TOPMed
CRISPLD2	Q9H0B8	p.Glu188Gln	rs1005694320	missense variant	-	NC_000016.10:g.84850637G>C	TOPMed
CRISPLD2	Q9H0B8	p.Trp190Leu	rs1242500827	missense variant	-	NC_000016.10:g.84850644G>T	gnomAD
CRISPLD2	Q9H0B8	p.Asn192Thr	rs1157400410	missense variant	-	NC_000016.10:g.84850650A>C	TOPMed
CRISPLD2	Q9H0B8	p.Asn192Lys	rs572744640	missense variant	-	NC_000016.10:g.84850651C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala193Thr	rs768656898	missense variant	-	NC_000016.10:g.84850652G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ala193Val	rs541718336	missense variant	-	NC_000016.10:g.84850653C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr195Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.84850660C>G	NCI-TCGA
CRISPLD2	Q9H0B8	p.Phe196Leu	rs1323234090	missense variant	-	NC_000016.10:g.84850661T>C	gnomAD
CRISPLD2	Q9H0B8	p.Phe196Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84850663T>G	NCI-TCGA
CRISPLD2	Q9H0B8	p.Val197Ile	rs200065021	missense variant	-	NC_000016.10:g.84850664G>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Cys198Ter	rs1402383642	stop gained	-	NC_000016.10:g.84850669C>A	gnomAD
CRISPLD2	Q9H0B8	p.Asn199Ser	rs760320435	missense variant	-	NC_000016.10:g.84850671A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr200Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.84850675T>G	NCI-TCGA
CRISPLD2	Q9H0B8	p.Ser201Ala	rs1448659159	missense variant	-	NC_000016.10:g.84850676T>G	gnomAD
CRISPLD2	Q9H0B8	p.Ser201Cys	rs753278157	missense variant	-	NC_000016.10:g.84850677C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser201Phe	rs753278157	missense variant	-	NC_000016.10:g.84850677C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys203Gln	rs753074972	missense variant	-	NC_000016.10:g.84850682A>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys203Glu	rs753074972	missense variant	-	NC_000016.10:g.84850682A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asn205Thr	rs754183179	missense variant	-	NC_000016.10:g.84854734A>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asn205Ser	rs754183179	missense variant	-	NC_000016.10:g.84854734A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro211Ala	rs1177692639	missense variant	-	NC_000016.10:g.84854751C>G	gnomAD
CRISPLD2	Q9H0B8	p.Pro211Arg	rs1237935863	missense variant	-	NC_000016.10:g.84854752C>G	gnomAD
CRISPLD2	Q9H0B8	p.Pro211Ser	rs1177692639	missense variant	-	NC_000016.10:g.84854751C>T	gnomAD
CRISPLD2	Q9H0B8	p.Lys213Glu	rs1395492483	missense variant	-	NC_000016.10:g.84854757A>G	gnomAD
CRISPLD2	Q9H0B8	p.Gly215Asp	rs139996756	missense variant	-	NC_000016.10:g.84854764G>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg216Trp	rs145328449	missense variant	-	NC_000016.10:g.84854766C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg216Gln	rs199608437	missense variant	-	NC_000016.10:g.84854767G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro217Ser	rs1402632786	missense variant	-	NC_000016.10:g.84854769C>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Cys218Ser	rs1330991007	missense variant	-	NC_000016.10:g.84854773G>C	gnomAD
CRISPLD2	Q9H0B8	p.Glu220Ala	rs1368008159	missense variant	-	NC_000016.10:g.84854779A>C	gnomAD
CRISPLD2	Q9H0B8	p.Pro222Leu	rs1298956805	missense variant	-	NC_000016.10:g.84854785C>T	gnomAD
CRISPLD2	Q9H0B8	p.Pro222Ala	rs562251943	missense variant	-	NC_000016.10:g.84854784C>G	1000Genomes
CRISPLD2	Q9H0B8	p.Pro223His	rs1051557895	missense variant	-	NC_000016.10:g.84854788C>A	TOPMed
CRISPLD2	Q9H0B8	p.Ser224Thr	rs756825859	missense variant	-	NC_000016.10:g.84854791G>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser224Gly	rs1330392415	missense variant	-	NC_000016.10:g.84854790A>G	gnomAD
CRISPLD2	Q9H0B8	p.Tyr225Cys	rs532659564	missense variant	-	NC_000016.10:g.84854794A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly227Ser	rs769352678	missense variant	-	NC_000016.10:g.84854799G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg230Gly	rs1489275311	missense variant	-	NC_000016.10:g.84854808A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg230Trp	rs1489275311	missense variant	-	NC_000016.10:g.84854808A>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asn232Ser	rs1265715162	missense variant	-	NC_000016.10:g.84854815A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Leu233Ser	rs748497929	missense variant	-	NC_000016.10:g.84854818T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Cys234Arg	rs772540506	missense variant	-	NC_000016.10:g.84854820T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Arg236Ter	rs377586344	stop gained	-	NC_000016.10:g.84854826C>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg236Gln	rs761262421	missense variant	-	NC_000016.10:g.84854827G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu237Lys	rs1459656319	missense variant	-	NC_000016.10:g.84854829G>A	gnomAD
CRISPLD2	Q9H0B8	p.Glu238Gln	rs1192263529	missense variant	-	NC_000016.10:g.84866899G>C	TOPMed
CRISPLD2	Q9H0B8	p.Thr239Ser	rs1288623236	missense variant	-	NC_000016.10:g.84866903C>G	gnomAD
CRISPLD2	Q9H0B8	p.Thr239Pro	rs775634299	missense variant	-	NC_000016.10:g.84866902A>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Thr239Ser	rs775634299	missense variant	-	NC_000016.10:g.84866902A>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Thr241Ser	rs1487557400	missense variant	-	NC_000016.10:g.84866909C>G	gnomAD
CRISPLD2	Q9H0B8	p.Pro242Arg	rs537394347	missense variant	-	NC_000016.10:g.84866912C>G	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro242Leu	rs537394347	missense variant	-	NC_000016.10:g.84866912C>T	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Lys243Asn	rs761555258	missense variant	-	NC_000016.10:g.84866916A>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro244Ala	rs767391580	missense variant	-	NC_000016.10:g.84866917C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro244Arg	rs750348770	missense variant	-	NC_000016.10:g.84866918C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Thr246Met	rs1040279851	missense variant	-	NC_000016.10:g.84866924C>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr246Lys	rs1040279851	missense variant	-	NC_000016.10:g.84866924C>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr246Ala	rs1413293653	missense variant	-	NC_000016.10:g.84866923A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp247Glu	rs199707289	missense variant	-	NC_000016.10:g.84866928C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp247Asn	rs753223113	missense variant	-	NC_000016.10:g.84866926G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Glu248Lys	rs747413249	missense variant	-	NC_000016.10:g.84866929G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Glu248Asp	rs373648189	missense variant	-	NC_000016.10:g.84866931G>C	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met249Ile	rs746375083	missense variant	-	NC_000016.10:g.84866934G>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Met249Thr	rs781599140	missense variant	-	NC_000016.10:g.84866933T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Met249Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84866932A>G	NCI-TCGA
CRISPLD2	Q9H0B8	p.Glu251Asp	rs1341823284	missense variant	-	NC_000016.10:g.84866940G>T	gnomAD
CRISPLD2	Q9H0B8	p.Thr254Met	rs570035929	missense variant	-	NC_000016.10:g.84866948C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala255Val	rs1219774383	missense variant	-	NC_000016.10:g.84866951C>T	TOPMed
CRISPLD2	Q9H0B8	p.Pro256Leu	rs539095345	missense variant	-	NC_000016.10:g.84866954C>T	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro256Arg	rs539095345	missense variant	-	NC_000016.10:g.84866954C>G	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro258Ala	rs1352033412	missense variant	-	NC_000016.10:g.84866959C>G	gnomAD
CRISPLD2	Q9H0B8	p.Pro258Arg	rs1223691593	missense variant	-	NC_000016.10:g.84866960C>G	gnomAD
CRISPLD2	Q9H0B8	p.Glu260Asp	rs1279995301	missense variant	-	NC_000016.10:g.84866967A>C	gnomAD
CRISPLD2	Q9H0B8	p.Glu260Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.84866965G>T	NCI-TCGA
CRISPLD2	Q9H0B8	p.Asn261Tyr	rs1314497649	missense variant	-	NC_000016.10:g.84866968A>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.His262Asp	rs150433030	missense variant	-	NC_000016.10:g.84866971C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.His262Gln	rs1242622102	missense variant	-	NC_000016.10:g.84866973T>A	gnomAD
CRISPLD2	Q9H0B8	p.Val263Leu	rs1458330703	missense variant	-	NC_000016.10:g.84866974G>C	gnomAD
CRISPLD2	Q9H0B8	p.Val263Ile	rs1458330703	missense variant	-	NC_000016.10:g.84866974G>A	gnomAD
CRISPLD2	Q9H0B8	p.Val263Asp	rs113926835	missense variant	-	NC_000016.10:g.84866975T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Trp264Cys	rs199795514	missense variant	-	NC_000016.10:g.84866979G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gln266Glu	rs750392265	missense variant	-	NC_000016.10:g.84866983C>G	ExAC
CRISPLD2	Q9H0B8	p.Pro267Gln	rs187741570	missense variant	-	NC_000016.10:g.84866987C>A	1000Genomes,gnomAD
CRISPLD2	Q9H0B8	p.Pro267Leu	rs187741570	missense variant	-	NC_000016.10:g.84866987C>T	1000Genomes,gnomAD
CRISPLD2	Q9H0B8	p.Val269Ala	rs1412705495	missense variant	-	NC_000016.10:g.84866993T>C	gnomAD
CRISPLD2	Q9H0B8	p.Val269Met	rs962627684	missense variant	-	NC_000016.10:g.84866992G>A	TOPMed
CRISPLD2	Q9H0B8	p.Met270Lys	rs958808084	missense variant	-	NC_000016.10:g.84866996T>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met270Ile	rs1248302083	missense variant	-	NC_000016.10:g.84866997G>A	TOPMed
CRISPLD2	Q9H0B8	p.Met270Val	rs114234975	missense variant	-	NC_000016.10:g.84866995A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met270Thr	rs958808084	missense variant	-	NC_000016.10:g.84866996T>C	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg271Ile	COSM4828476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84866999G>T	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Pro272His	rs569725982	missense variant	-	NC_000016.10:g.84867002C>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro272Arg	rs569725982	missense variant	-	NC_000016.10:g.84867002C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro272Ser	rs766172142	missense variant	-	NC_000016.10:g.84867001C>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Thr273Asn	rs778748348	missense variant	-	NC_000016.10:g.84867005C>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr273Ser	rs778748348	missense variant	-	NC_000016.10:g.84867005C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro275His	rs1370286919	missense variant	-	NC_000016.10:g.84867011C>A	gnomAD
CRISPLD2	Q9H0B8	p.Lys276Arg	rs143403506	missense variant	-	NC_000016.10:g.84867014A>G	ESP,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys276Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84867015G>T	NCI-TCGA
CRISPLD2	Q9H0B8	p.Lys277Gln	rs538277834	missense variant	-	NC_000016.10:g.84867016A>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Lys277Asn	rs1318757649	missense variant	-	NC_000016.10:g.84867018A>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys277Glu	rs538277834	missense variant	-	NC_000016.10:g.84867016A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Thr278Ile	rs778905360	missense variant	-	NC_000016.10:g.84867020C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr278Asn	rs778905360	missense variant	-	NC_000016.10:g.84867020C>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser279Phe	rs575028796	missense variant	-	NC_000016.10:g.84867023C>T	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser279Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84867023C>G	NCI-TCGA
CRISPLD2	Q9H0B8	p.Ala280Glu	rs956902217	missense variant	-	NC_000016.10:g.84867026C>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala280Val	rs956902217	missense variant	-	NC_000016.10:g.84867026C>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met284Ile	rs149615348	missense variant	-	NC_000016.10:g.84867039G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr285Ser	rs1303803234	missense variant	-	NC_000016.10:g.84867040A>T	TOPMed
CRISPLD2	Q9H0B8	p.Val288Ile	rs766721884	missense variant	-	NC_000016.10:g.84868859G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val288Ala	rs1235337365	missense variant	-	NC_000016.10:g.84868860T>C	gnomAD
CRISPLD2	Q9H0B8	p.Cys290Tyr	rs148934412	missense variant	-	NC_000016.10:g.84868866G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp291Gly	rs201418783	missense variant	-	NC_000016.10:g.84868869A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Lys293Asn	rs1255843337	missense variant	-	NC_000016.10:g.84868876G>C	TOPMed
CRISPLD2	Q9H0B8	p.Lys293Gln	rs866428176	missense variant	-	NC_000016.10:g.84868874A>C	gnomAD
CRISPLD2	Q9H0B8	p.Lys293Glu	rs866428176	missense variant	-	NC_000016.10:g.84868874A>G	gnomAD
CRISPLD2	Q9H0B8	p.Met294Leu	rs72799568	missense variant	-	NC_000016.10:g.84868877A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met294Val	rs72799568	missense variant	-	NC_000016.10:g.84868877A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys295Asn	rs752855933	missense variant	-	NC_000016.10:g.84868882G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg297Met	rs778110083	missense variant	-	NC_000016.10:g.84868887G>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg297Ser	rs969445457	missense variant	-	NC_000016.10:g.84868888G>C	TOPMed
CRISPLD2	Q9H0B8	p.Arg297Gly	rs1024105519	missense variant	-	NC_000016.10:g.84868886A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser301Phe	rs1336265865	missense variant	-	NC_000016.10:g.84868899C>T	gnomAD
CRISPLD2	Q9H0B8	p.Ser301Pro	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84868898T>C	NCI-TCGA
CRISPLD2	Q9H0B8	p.Thr302Met	rs747188693	missense variant	-	NC_000016.10:g.84868902C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asn304Ser	rs781141782	missense variant	-	NC_000016.10:g.84868908A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Gln307Glu	rs1406103502	missense variant	-	NC_000016.10:g.84872446C>G	TOPMed
CRISPLD2	Q9H0B8	p.Pro309Ser	rs564309410	missense variant	-	NC_000016.10:g.84872452C>T	1000Genomes
CRISPLD2	Q9H0B8	p.Pro309Leu	rs902451759	missense variant	-	NC_000016.10:g.84872453C>T	TOPMed
CRISPLD2	Q9H0B8	p.Gly311Asp	rs747697897	missense variant	-	NC_000016.10:g.84872459G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.His315Tyr	rs1251093495	missense variant	-	NC_000016.10:g.84872470C>T	gnomAD
CRISPLD2	Q9H0B8	p.Lys316Glu	rs1489038236	missense variant	-	NC_000016.10:g.84872473A>G	gnomAD
CRISPLD2	Q9H0B8	p.Ala317Val	rs201861816	missense variant	-	NC_000016.10:g.84872477C>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala317Gly	rs201861816	missense variant	-	NC_000016.10:g.84872477C>G	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala317Thr	rs1003197762	missense variant	-	NC_000016.10:g.84872476G>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys318Arg	rs1194396731	missense variant	-	NC_000016.10:g.84872480A>G	gnomAD
CRISPLD2	Q9H0B8	p.Ile319Met	rs372522087	missense variant	-	NC_000016.10:g.84872484C>G	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Phe320Ser	rs533386261	missense variant	-	NC_000016.10:g.84872486T>C	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Gly321Val	rs764547273	missense variant	-	NC_000016.10:g.84872489G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Thr322Ser	rs721005	missense variant	-	NC_000016.10:g.84872492C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr322Ser	rs1301086042	missense variant	-	NC_000016.10:g.84872491A>T	gnomAD
CRISPLD2	Q9H0B8	p.Leu323Val	rs762038885	missense variant	-	NC_000016.10:g.84872494C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Phe324Leu	rs201194618	missense variant	-	NC_000016.10:g.84872499C>G	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr325Cys	rs560611349	missense variant	-	NC_000016.10:g.84872501A>G	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser327Gly	rs1313039468	missense variant	-	NC_000016.10:g.84872506A>G	gnomAD
CRISPLD2	Q9H0B8	p.Ser328Leu	rs373672055	missense variant	-	NC_000016.10:g.84872993C>T	1000Genomes,ESP,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser329Pro	rs748473995	missense variant	-	NC_000016.10:g.84872995T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ile331Val	rs773822971	missense variant	-	NC_000016.10:g.84873001A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Arg333Cys	rs375824731	missense variant	-	NC_000016.10:g.84873007C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg333His	rs1168434863	missense variant	-	NC_000016.10:g.84873008G>A	TOPMed
CRISPLD2	Q9H0B8	p.Arg333Pro	COSM6079824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84873008G>C	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Ala334Thr	rs184915941	missense variant	-	NC_000016.10:g.84873010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala335Pro	rs759809994	missense variant	-	NC_000016.10:g.84873013G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala335Thr	rs759809994	missense variant	-	NC_000016.10:g.84873013G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala335Val	rs1254409879	missense variant	-	NC_000016.10:g.84873014C>T	TOPMed
CRISPLD2	Q9H0B8	p.Ile336Val	rs765389169	missense variant	-	NC_000016.10:g.84873016A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.His337Gln	rs1196939619	missense variant	-	NC_000016.10:g.84873021C>G	TOPMed
CRISPLD2	Q9H0B8	p.Tyr338Cys	rs762699158	missense variant	-	NC_000016.10:g.84873023A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Gly339Arg	rs200575316	missense variant	-	NC_000016.10:g.84873025G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asp343Glu	rs34582606	missense variant	-	NC_000016.10:g.84873039C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys344Met	rs548735529	missense variant	-	NC_000016.10:g.84873041A>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys344Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84873041A>G	NCI-TCGA
CRISPLD2	Q9H0B8	p.Val348Gly	rs1309636332	missense variant	-	NC_000016.10:g.84873053T>G	TOPMed
CRISPLD2	Q9H0B8	p.Thr351Ile	rs536109763	missense variant	-	NC_000016.10:g.84873062C>T	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Thr351Pro	rs1353177991	missense variant	-	NC_000016.10:g.84873061A>C	gnomAD
CRISPLD2	Q9H0B8	p.Arg352Gly	rs1347969464	missense variant	-	NC_000016.10:g.84873064A>G	gnomAD
CRISPLD2	Q9H0B8	p.Arg352Lys	COSM3513042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84873065G>A	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Asn353Ser	rs1221710743	missense variant	-	NC_000016.10:g.84873068A>G	gnomAD
CRISPLD2	Q9H0B8	p.Gly354Arg	rs747546737	missense variant	-	NC_000016.10:g.84873070G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly354Glu	rs771277704	missense variant	-	NC_000016.10:g.84873071G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Gly354Trp	rs747546737	missense variant	-	NC_000016.10:g.84873070G>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys355Asn	rs1459556529	missense variant	-	NC_000016.10:g.84873075G>T	TOPMed
CRISPLD2	Q9H0B8	p.Val356Leu	rs776789199	missense variant	-	NC_000016.10:g.84873076G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val356Phe	rs776789199	missense variant	-	NC_000016.10:g.84873076G>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val356Ile	rs776789199	missense variant	-	NC_000016.10:g.84873076G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro357Arg	rs770036422	missense variant	-	NC_000016.10:g.84873080C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Phe358Leu	rs1474338913	missense variant	-	NC_000016.10:g.84873082T>C	TOPMed
CRISPLD2	Q9H0B8	p.Val360Met	rs201353419	missense variant	-	NC_000016.10:g.84873088G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val360Leu	rs201353419	missense variant	-	NC_000016.10:g.84873088G>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys361Asn	rs916485878	missense variant	-	NC_000016.10:g.84873093G>T	TOPMed
CRISPLD2	Q9H0B8	p.Ser362Cys	rs1469472532	missense variant	-	NC_000016.10:g.84873095C>G	TOPMed
CRISPLD2	Q9H0B8	p.Arg364Lys	rs147512774	missense variant	-	NC_000016.10:g.84873101G>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.His365Asn	rs1478588542	missense variant	-	NC_000016.10:g.84873103C>A	gnomAD
CRISPLD2	Q9H0B8	p.Gly366Ser	rs138350685	missense variant	-	NC_000016.10:g.84873106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val367Met	rs753528852	missense variant	-	NC_000016.10:g.84873109G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gln368Arg	rs1367941267	missense variant	-	NC_000016.10:g.84873113A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gln368His	rs758901132	missense variant	-	NC_000016.10:g.84873114G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Gln368Leu	rs1367941267	missense variant	-	NC_000016.10:g.84873113A>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser369Tyr	rs984645008	missense variant	-	NC_000016.10:g.84873116C>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser371Gly	rs1433121376	missense variant	-	NC_000016.10:g.84873121A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser371Arg	rs748312260	missense variant	-	NC_000016.10:g.84873920C>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Lys372Arg	rs772271835	missense variant	-	NC_000016.10:g.84873922A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys372Thr	rs772271835	missense variant	-	NC_000016.10:g.84873922A>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys372Ile	rs772271835	missense variant	-	NC_000016.10:g.84873922A>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Lys372Glu	rs1260814080	missense variant	-	NC_000016.10:g.84873921A>G	gnomAD
CRISPLD2	Q9H0B8	p.Tyr373Asn	rs746752805	missense variant	-	NC_000016.10:g.84873924T>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Tyr373Ter	rs771027402	stop gained	-	NC_000016.10:g.84873926C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Tyr373Ter	rs771027402	stop gained	-	NC_000016.10:g.84873926C>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro375Ser	rs1180344478	missense variant	-	NC_000016.10:g.84873930C>T	gnomAD
CRISPLD2	Q9H0B8	p.Pro375Thr	rs1180344478	missense variant	-	NC_000016.10:g.84873930C>A	gnomAD
CRISPLD2	Q9H0B8	p.Ser376Cys	rs1363266347	missense variant	-	NC_000016.10:g.84873934C>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser377Gly	rs759169076	missense variant	-	NC_000016.10:g.84873936A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser378Leu	rs867016732	missense variant	-	NC_000016.10:g.84873940C>T	gnomAD
CRISPLD2	Q9H0B8	p.Phe379Leu	rs769176721	missense variant	-	NC_000016.10:g.84873944C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Met380Thr	rs370914708	missense variant	-	NC_000016.10:g.84873946T>C	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Met380Val	rs144230063	missense variant	-	NC_000016.10:g.84873945A>G	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val381Leu	rs750814672	missense variant	-	NC_000016.10:g.84873948G>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser382Thr	rs545712912	missense variant	-	NC_000016.10:g.84873951T>A	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser382Ter	rs1331634446	stop gained	-	NC_000016.10:g.84873952C>A	gnomAD
CRISPLD2	Q9H0B8	p.Lys383Glu	rs1224751000	missense variant	-	NC_000016.10:g.84873954A>G	gnomAD
CRISPLD2	Q9H0B8	p.Val384Leu	rs983454189	missense variant	-	NC_000016.10:g.84873957G>C	TOPMed
CRISPLD2	Q9H0B8	p.Lys385Ile	rs1322392407	missense variant	-	NC_000016.10:g.84873961A>T	gnomAD
CRISPLD2	Q9H0B8	p.Lys385Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84873960A>G	NCI-TCGA
CRISPLD2	Q9H0B8	p.Val386Gly	rs1359365923	missense variant	-	NC_000016.10:g.84877438T>G	gnomAD
CRISPLD2	Q9H0B8	p.Gln387Arg	rs367832122	missense variant	-	NC_000016.10:g.84877441A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gln387Ter	rs1173274096	stop gained	-	NC_000016.10:g.84877440C>T	TOPMed
CRISPLD2	Q9H0B8	p.Asp388Asn	COSM3421207	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84877443G>A	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Asp390Tyr	rs79001318	missense variant	-	NC_000016.10:g.84877449G>T	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp390Asn	rs79001318	missense variant	-	NC_000016.10:g.84877449G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Cys391Trp	rs757572271	missense variant	-	NC_000016.10:g.84877454C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr392Phe	rs1244598342	missense variant	-	NC_000016.10:g.84877456A>T	gnomAD
CRISPLD2	Q9H0B8	p.Tyr392Ter	rs896320512	stop gained	-	NC_000016.10:g.84877457C>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr392His	rs567776165	missense variant	-	NC_000016.10:g.84877455T>C	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr393Met	rs200594730	missense variant	-	NC_000016.10:g.84877459C>T	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr393Ala	rs1013863173	missense variant	-	NC_000016.10:g.84877458A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr394Ile	rs1419608996	missense variant	-	NC_000016.10:g.84877462C>T	gnomAD
CRISPLD2	Q9H0B8	p.Val395Ile	rs550110140	missense variant	-	NC_000016.10:g.84877464G>A	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val395Asp	rs1239219803	missense variant	-	NC_000016.10:g.84877465T>A	gnomAD
CRISPLD2	Q9H0B8	p.Val395Phe	rs550110140	missense variant	-	NC_000016.10:g.84877464G>T	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala396Thr	rs1452577420	missense variant	-	NC_000016.10:g.84877467G>A	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala396Asp	rs192534557	missense variant	-	NC_000016.10:g.84877468C>A	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Leu398Val	rs148726852	missense variant	-	NC_000016.10:g.84877473C>G	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Cys399Tyr	rs539002225	missense variant	-	NC_000016.10:g.84877477G>A	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro400Leu	rs777452684	missense variant	-	NC_000016.10:g.84877480C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro400Gln	rs777452684	missense variant	-	NC_000016.10:g.84877480C>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu402Gln	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84877485G>C	NCI-TCGA
CRISPLD2	Q9H0B8	p.Lys403Asn	rs961720249	missense variant	-	NC_000016.10:g.84877490G>C	TOPMed
CRISPLD2	Q9H0B8	p.Pro404Arg	rs370393756	missense variant	-	NC_000016.10:g.84877492C>G	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala405Thr	rs1315237312	missense variant	-	NC_000016.10:g.84877494G>A	gnomAD
CRISPLD2	Q9H0B8	p.His407Asp	rs1415125345	missense variant	-	NC_000016.10:g.84877500C>G	gnomAD
CRISPLD2	Q9H0B8	p.His407Gln	rs923414526	missense variant	-	NC_000016.10:g.84877502C>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro409Arg	rs1462838807	missense variant	-	NC_000016.10:g.84877507C>G	gnomAD
CRISPLD2	Q9H0B8	p.Pro409Ser	rs375408602	missense variant	-	NC_000016.10:g.84877506C>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ile411Met	rs374345728	missense variant	-	NC_000016.10:g.84880512C>G	ESP,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.His412Tyr	rs150582176	missense variant	-	NC_000016.10:g.84880513C>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.His412Asn	rs150582176	missense variant	-	NC_000016.10:g.84880513C>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Cys413Phe	rs1002647488	missense variant	-	NC_000016.10:g.84880517G>T	TOPMed
CRISPLD2	Q9H0B8	p.Pro414Ser	rs766462225	missense variant	-	NC_000016.10:g.84880519C>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Pro414Leu	rs1303825602	missense variant	-	NC_000016.10:g.84880520C>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro414Ala	rs766462225	missense variant	-	NC_000016.10:g.84880519C>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ala415Thr	rs765209491	missense variant	-	NC_000016.10:g.84880522G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala415Ser	rs765209491	missense variant	-	NC_000016.10:g.84880522G>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala415Pro	COSM6079820	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84880522G>C	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.His416Arg	rs1407621974	missense variant	-	NC_000016.10:g.84880526A>G	TOPMed
CRISPLD2	Q9H0B8	p.Lys418Glu	rs752621095	missense variant	-	NC_000016.10:g.84880531A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asp419Val	rs961225393	missense variant	-	NC_000016.10:g.84880535A>T	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp419Glu	rs371030002	missense variant	-	NC_000016.10:g.84880536C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp419Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84880534G>A	NCI-TCGA
CRISPLD2	Q9H0B8	p.Glu420Ter	rs763668278	stop gained	-	NC_000016.10:g.84880537G>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu420Lys	rs763668278	missense variant	-	NC_000016.10:g.84880537G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu420Lys	rs763668278	missense variant	-	NC_000016.10:g.84880537G>A	NCI-TCGA
CRISPLD2	Q9H0B8	p.Pro421Arg	rs750979414	missense variant	-	NC_000016.10:g.84880541C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro421Leu	rs750979414	missense variant	-	NC_000016.10:g.84880541C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro421His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84880541C>A	NCI-TCGA
CRISPLD2	Q9H0B8	p.Ser422Ala	rs780673938	missense variant	-	NC_000016.10:g.84880543T>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Trp424Ter	rs1242284853	stop gained	-	NC_000016.10:g.84880551G>A	gnomAD
CRISPLD2	Q9H0B8	p.Trp424Gly	rs762567141	missense variant	-	NC_000016.10:g.84880549T>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala425Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84880552G>A	NCI-TCGA
CRISPLD2	Q9H0B8	p.Pro426Arg	rs369151118	missense variant	-	NC_000016.10:g.84880556C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro426Leu	rs369151118	missense variant	-	NC_000016.10:g.84880556C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro426Leu	rs369151118	missense variant	-	NC_000016.10:g.84880556C>T	NCI-TCGA,NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Val427Met	rs1417890746	missense variant	-	NC_000016.10:g.84880558G>A	gnomAD
CRISPLD2	Q9H0B8	p.Val427Glu	rs772401417	missense variant	-	NC_000016.10:g.84880559T>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Phe428Leu	rs773362508	missense variant	-	NC_000016.10:g.84880563T>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Thr430Ala	rs1368037119	missense variant	-	NC_000016.10:g.84880567A>G	gnomAD
CRISPLD2	Q9H0B8	p.Asn431Lys	rs1322978032	missense variant	-	NC_000016.10:g.84880572C>A	gnomAD
CRISPLD2	Q9H0B8	p.Asn431Ser	rs139975503	missense variant	-	NC_000016.10:g.84880571A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asn431Ile	rs139975503	missense variant	-	NC_000016.10:g.84880571A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ile432Val	rs1327245068	missense variant	-	NC_000016.10:g.84880573A>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr433Cys	rs771225379	missense variant	-	NC_000016.10:g.84880577A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala434Gly	rs35711987	missense variant	-	NC_000016.10:g.84880580C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala434Val	rs35711987	missense variant	-	NC_000016.10:g.84880580C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala434Thr	rs776813816	missense variant	-	NC_000016.10:g.84880579G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asp435Asn	rs765014952	missense variant	-	NC_000016.10:g.84880582G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asp435Gly	rs575919207	missense variant	-	NC_000016.10:g.84880583A>G	1000Genomes,ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asp435His	rs765014952	missense variant	-	NC_000016.10:g.84880582G>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Thr436Asn	rs371174242	missense variant	-	NC_000016.10:g.84889231C>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr436Ile	rs371174242	missense variant	-	NC_000016.10:g.84889231C>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ser437Thr	rs780317721	missense variant	-	NC_000016.10:g.84889233T>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser438Asn	rs768863429	missense variant	-	NC_000016.10:g.84889237G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ile439Phe	rs553637204	missense variant	-	NC_000016.10:g.84889239A>T	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ile439Val	rs553637204	missense variant	-	NC_000016.10:g.84889239A>G	1000Genomes,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Cys440Phe	rs1273977128	missense variant	-	NC_000016.10:g.84889243G>T	gnomAD
CRISPLD2	Q9H0B8	p.Val444Met	rs760319660	missense variant	-	NC_000016.10:g.84889254G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala446Thr	rs776142449	missense variant	-	NC_000016.10:g.84889260G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala446Gly	rs759125995	missense variant	-	NC_000016.10:g.84889261C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala446Val	rs759125995	missense variant	-	NC_000016.10:g.84889261C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ala446Thr	rs776142449	missense variant	-	NC_000016.10:g.84889260G>A	NCI-TCGA
CRISPLD2	Q9H0B8	p.Ile449Thr	rs774613732	missense variant	-	NC_000016.10:g.84889270T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ile449Ser	rs774613732	missense variant	-	NC_000016.10:g.84889270T>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ile449Phe	rs1427708179	missense variant	-	NC_000016.10:g.84889269A>T	gnomAD
CRISPLD2	Q9H0B8	p.Ser450Gly	rs768067067	missense variant	-	NC_000016.10:g.84889272A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asn451Ser	rs750921409	missense variant	-	NC_000016.10:g.84889276A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asn451Lys	rs756544146	missense variant	-	NC_000016.10:g.84889277C>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu452Ter	rs766380513	stop gained	-	NC_000016.10:g.84889278G>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser453Thr	rs1324523975	missense variant	-	NC_000016.10:g.84889282G>C	TOPMed
CRISPLD2	Q9H0B8	p.Gly454Glu	rs1396864570	missense variant	-	NC_000016.10:g.84889285G>A	TOPMed
CRISPLD2	Q9H0B8	p.Asp456Asn	rs779163797	missense variant	-	NC_000016.10:g.84889290G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val457Met	rs758255060	missense variant	-	NC_000016.10:g.84889293G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Asp458Glu	rs149025682	missense variant	-	NC_000016.10:g.84889298C>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp458Ala	rs1360809221	missense variant	-	NC_000016.10:g.84889297A>C	gnomAD
CRISPLD2	Q9H0B8	p.Val459Ala	rs1264005387	missense variant	-	NC_000016.10:g.84889300T>C	gnomAD
CRISPLD2	Q9H0B8	p.Val459Met	rs746949273	missense variant	-	NC_000016.10:g.84889299G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro461Ala	rs949836598	missense variant	-	NC_000016.10:g.84889305C>G	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val462Met	rs374721152	missense variant	-	NC_000016.10:g.84889308G>A	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Val462Leu	rs374721152	missense variant	-	NC_000016.10:g.84889308G>C	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Asp463Val	rs1372272606	missense variant	-	NC_000016.10:g.84889312A>T	gnomAD
CRISPLD2	Q9H0B8	p.Asp463His	rs981292423	missense variant	-	NC_000016.10:g.84889311G>C	TOPMed
CRISPLD2	Q9H0B8	p.Lys465Thr	COSM974482	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84889318A>C	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Lys466Glu	rs769376745	missense variant	-	NC_000016.10:g.84889320A>G	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Lys466ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.84889319G>-	NCI-TCGA
CRISPLD2	Q9H0B8	p.Thr467Ser	rs1445029390	missense variant	-	NC_000016.10:g.84889324C>G	gnomAD
CRISPLD2	Q9H0B8	p.Tyr468Cys	rs201807614	missense variant	-	NC_000016.10:g.84889327A>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Tyr468Cys	rs201807614	missense variant	-	NC_000016.10:g.84889327A>G	NCI-TCGA,NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Val469Met	rs767869124	missense variant	-	NC_000016.10:g.84889329G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser471Leu	rs761191112	missense variant	-	NC_000016.10:g.84889336C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Leu472Phe	rs1433275597	missense variant	-	NC_000016.10:g.84889338C>T	gnomAD
CRISPLD2	Q9H0B8	p.Leu472Val	rs1433275597	missense variant	-	NC_000016.10:g.84889338C>G	gnomAD
CRISPLD2	Q9H0B8	p.Arg473Ser	rs1320314936	missense variant	-	NC_000016.10:g.84889343G>C	TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg473Met	rs935435860	missense variant	-	NC_000016.10:g.84889342G>T	TOPMed
CRISPLD2	Q9H0B8	p.Asn474His	rs1384179980	missense variant	-	NC_000016.10:g.84889344A>C	gnomAD
CRISPLD2	Q9H0B8	p.Gly475Arg	rs1230578312	missense variant	-	NC_000016.10:g.84889347G>A	gnomAD
CRISPLD2	Q9H0B8	p.Val476Ile	rs753967824	missense variant	-	NC_000016.10:g.84889350G>A	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ser478Thr	rs765172863	missense variant	-	NC_000016.10:g.84889356T>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Glu479Lys	rs74573375	missense variant	-	NC_000016.10:g.84889359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Leu481Val	rs775820924	missense variant	-	NC_000016.10:g.84906589C>G	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Gly482Trp	rs372392348	missense variant	-	NC_000016.10:g.84906592G>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr483Ser	rs151315770	missense variant	-	NC_000016.10:g.84906595A>T	ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Thr483Ile	rs751698551	missense variant	-	NC_000016.10:g.84906596C>T	ExAC
CRISPLD2	Q9H0B8	p.Pro484Ala	rs1307027606	missense variant	-	NC_000016.10:g.84906598C>G	TOPMed
CRISPLD2	Q9H0B8	p.Pro484His	rs199899739	missense variant	-	NC_000016.10:g.84906599C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Pro484Leu	rs199899739	missense variant	-	NC_000016.10:g.84906599C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg485Trp	rs779616732	missense variant	-	NC_000016.10:g.84906601C>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Arg485Gln	rs750379944	missense variant	-	NC_000016.10:g.84906602G>A	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg485Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84906602G>T	NCI-TCGA
CRISPLD2	Q9H0B8	p.Asp486Tyr	rs1270506027	missense variant	-	NC_000016.10:g.84906604G>T	gnomAD
CRISPLD2	Q9H0B8	p.Asp486Val	rs1476873050	missense variant	-	NC_000016.10:g.84906605A>T	gnomAD
CRISPLD2	Q9H0B8	p.Gly487Glu	rs1380340812	missense variant	-	NC_000016.10:g.84906608G>A	TOPMed
CRISPLD2	Q9H0B8	p.Ala489Val	rs779857159	missense variant	-	NC_000016.10:g.84906614C>T	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ala489Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.84906613G>A	NCI-TCGA
CRISPLD2	Q9H0B8	p.Phe490Leu	rs1413762160	missense variant	-	NC_000016.10:g.84906616T>C	TOPMed
CRISPLD2	Q9H0B8	p.Arg491Trp	rs754640127	missense variant	-	NC_000016.10:g.84906619C>T	ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Arg491Gln	rs147087796	missense variant	-	NC_000016.10:g.84906620G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CRISPLD2	Q9H0B8	p.Ile492Thr	rs747689189	missense variant	-	NC_000016.10:g.84906623T>C	ExAC,gnomAD
CRISPLD2	Q9H0B8	p.Ala494Ser	COSM4063329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84906628G>T	NCI-TCGA Cosmic
CRISPLD2	Q9H0B8	p.Val495Ile	rs1303846699	missense variant	-	NC_000016.10:g.84906631G>A	gnomAD
CRISPLD2	Q9H0B8	p.Ter498Cys	rs1353429061	stop lost	-	NC_000016.10:g.84906642A>T	TOPMed
FAM49A	Q9H0Q0	p.Gly2Glu	COSM1685865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16588115C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Glu11Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16588089C>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Ile12Ser	rs1322791056	missense variant	-	NC_000002.12:g.16588085A>C	gnomAD
FAM49A	Q9H0Q0	p.Glu13Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16588083C>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Glu13Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16588082T>G	NCI-TCGA
FAM49A	Q9H0Q0	p.Phe19Leu	COSM3569379	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16588063G>C	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Phe19Ser	rs1436176579	missense variant	-	NC_000002.12:g.16588064A>G	gnomAD
FAM49A	Q9H0Q0	p.Ala25Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16565765C>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Ala25Ser	rs1169964068	missense variant	-	NC_000002.12:g.16565765C>A	gnomAD
FAM49A	Q9H0Q0	p.Gln26Arg	rs1475512991	missense variant	-	NC_000002.12:g.16565761T>C	gnomAD
FAM49A	Q9H0Q0	p.Thr28Arg	rs776019279	missense variant	-	NC_000002.12:g.16565755G>C	ExAC,TOPMed
FAM49A	Q9H0Q0	p.Thr28Ala	rs1367531517	missense variant	-	NC_000002.12:g.16565756T>C	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Gly30Glu	rs1185063245	missense variant	-	NC_000002.12:g.16565749C>T	gnomAD
FAM49A	Q9H0Q0	p.Arg32Ter	rs759954624	stop gained	-	NC_000002.12:g.16565744T>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Arg32Lys	rs1441615573	missense variant	-	NC_000002.12:g.16565743C>T	TOPMed
FAM49A	Q9H0Q0	p.Ile34Val	rs774525878	missense variant	-	NC_000002.12:g.16565738T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ile34Leu	rs774525878	missense variant	-	NC_000002.12:g.16565738T>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ile38Thr	rs1259531215	missense variant	-	NC_000002.12:g.16565725A>G	TOPMed
FAM49A	Q9H0Q0	p.Ala40Thr	rs1196461802	missense variant	-	NC_000002.12:g.16565720C>T	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Val41Leu	rs369930472	missense variant	-	NC_000002.12:g.16565717C>G	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Val41Ile	rs369930472	missense variant	-	NC_000002.12:g.16565717C>T	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Gln43Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.16565711G>A	NCI-TCGA
FAM49A	Q9H0Q0	p.Asp44Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16565708C>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Ser45Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16565704G>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Ser45Ala	rs1476211857	missense variant	-	NC_000002.12:g.16565705A>C	TOPMed
FAM49A	Q9H0Q0	p.Ile48Leu	rs1341419518	missense variant	-	NC_000002.12:g.16565696T>G	gnomAD
FAM49A	Q9H0Q0	p.Leu49Phe	rs1168125382	missense variant	-	NC_000002.12:g.16565693G>A	TOPMed
FAM49A	Q9H0Q0	p.Ala50Glu	rs773458438	missense variant	-	NC_000002.12:g.16565689G>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Asp51Glu	rs760305450	missense variant	-	NC_000002.12:g.16565685G>T	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Ala54Ser	rs879281805	missense variant	-	NC_000002.12:g.16565678C>A	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Gly57Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16565668C>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Gly57Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16565668C>A	NCI-TCGA
FAM49A	Q9H0Q0	p.Ala58Thr	rs1309243978	missense variant	-	NC_000002.12:g.16565666C>T	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Gly59Asp	rs1410052659	missense variant	-	NC_000002.12:g.16565662C>T	gnomAD
FAM49A	Q9H0Q0	p.Gly59Ser	COSM3569377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16565663C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Glu61Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16565656T>C	NCI-TCGA
FAM49A	Q9H0Q0	p.Glu61Asp	COSM6087943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16565655C>A	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Arg63Ter	rs1161086604	stop gained	-	NC_000002.12:g.16565651G>A	gnomAD
FAM49A	Q9H0Q0	p.Asp64Val	rs1293576071	missense variant	-	NC_000002.12:g.16565647T>A	TOPMed
FAM49A	Q9H0Q0	p.Asn70Lys	rs1051375504	missense variant	-	NC_000002.12:g.16564077A>T	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Asn70Asp	rs778888630	missense variant	-	NC_000002.12:g.16564079T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ile72Thr	COSM6087944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16564072A>G	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Gln73Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16564069T>G	NCI-TCGA
FAM49A	Q9H0Q0	p.Gln75Lys	COSM1008921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16564064G>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Glu76Ter	COSM3837289	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16564061C>A	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Glu76Gly	rs770672942	missense variant	-	NC_000002.12:g.16564060T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Trp79Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16564052A>G	NCI-TCGA
FAM49A	Q9H0Q0	p.Asn80Ser	rs1281094866	missense variant	-	NC_000002.12:g.16564048T>C	gnomAD
FAM49A	Q9H0Q0	p.Ala81Val	rs775108109	missense variant	-	NC_000002.12:g.16564045G>A	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Leu85Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16564034G>C	NCI-TCGA
FAM49A	Q9H0Q0	p.Arg88Ser	rs1333522541	missense variant	-	NC_000002.12:g.16564023C>A	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Lys90GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.16564018_16564019TT>-	NCI-TCGA
FAM49A	Q9H0Q0	p.Phe92Leu	rs777462186	missense variant	-	NC_000002.12:g.16564011A>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Tyr93His	rs755707957	missense variant	-	NC_000002.12:g.16564010A>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu94Lys	rs371312049	missense variant	-	NC_000002.12:g.16564007C>T	ESP,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu94Gln	rs371312049	missense variant	-	NC_000002.12:g.16564007C>G	ESP,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ser96Phe	COSM3569376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16564000G>A	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ile97Val	rs759325566	missense variant	-	NC_000002.12:g.16563998T>C	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Lys101Gln	rs757674617	missense variant	-	NC_000002.12:g.16562139T>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ala102Val	rs754154704	missense variant	-	NC_000002.12:g.16562135G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ala102Thr	COSM3569375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16562136C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Leu103Ile	COSM181852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16562133G>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Gln104Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.16562127_16562128insTGTACTGAGTACCTA	NCI-TCGA
FAM49A	Q9H0Q0	p.Gln104Ter	COSM1325794	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16562130G>A	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ser105Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16562125A>C	NCI-TCGA
FAM49A	Q9H0Q0	p.Glu108Asp	rs150652954	missense variant	-	NC_000002.12:g.16562116T>G	1000Genomes,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Thr111LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.16562110C>-	NCI-TCGA
FAM49A	Q9H0Q0	p.Cys112Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16562105C>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Pro113Gln	rs1376655065	missense variant	-	NC_000002.12:g.16562102G>T	gnomAD
FAM49A	Q9H0Q0	p.Pro114His	rs1294951607	missense variant	-	NC_000002.12:g.16562099G>T	gnomAD
FAM49A	Q9H0Q0	p.Tyr115Cys	rs775584664	missense variant	-	NC_000002.12:g.16562096T>C	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Thr118Ile	rs762840433	missense variant	-	NC_000002.12:g.16562087G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu124Lys	COSM5717002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16562070C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ala126Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16562063G>A	NCI-TCGA
FAM49A	Q9H0Q0	p.Glu130Gln	rs1391594211	missense variant	-	NC_000002.12:g.16562052C>G	TOPMed
FAM49A	Q9H0Q0	p.Glu130Gly	rs1416348970	missense variant	-	NC_000002.12:g.16562051T>C	gnomAD
FAM49A	Q9H0Q0	p.Glu133Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16562041T>G	NCI-TCGA
FAM49A	Q9H0Q0	p.Glu133Lys	rs868184603	missense variant	-	NC_000002.12:g.16562043C>T	gnomAD
FAM49A	Q9H0Q0	p.Thr138Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16562027G>A	NCI-TCGA
FAM49A	Q9H0Q0	p.Arg140Gln	rs146120289	missense variant	-	NC_000002.12:g.16562021C>T	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Arg140Ter	rs776202730	stop gained	-	NC_000002.12:g.16562022G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Met146Ile	COSM3569374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561531C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Pro149Leu	rs759576636	missense variant	-	NC_000002.12:g.16561523G>A	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Pro149Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561524G>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Ala150Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561520G>C	NCI-TCGA
FAM49A	Q9H0Q0	p.Ile151Val	rs1401651461	missense variant	-	NC_000002.12:g.16561518T>C	gnomAD
FAM49A	Q9H0Q0	p.Asp154Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561507G>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Arg160Lys	rs267598965	missense variant	-	NC_000002.12:g.16561490C>T	-
FAM49A	Q9H0Q0	p.Thr161Ile	rs1390522816	missense variant	-	NC_000002.12:g.16561487G>A	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Thr161Lys	COSM1400713	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561487G>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ser163Asn	rs765143733	missense variant	-	NC_000002.12:g.16561481C>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Arg164His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561478C>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Arg164Cys	rs761608103	missense variant	-	NC_000002.12:g.16561479G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Asn165Ile	rs138219641	missense variant	-	NC_000002.12:g.16561475T>A	ESP,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Arg166Cys	rs140297141	missense variant	-	NC_000002.12:g.16561473G>A	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Ile167Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561468G>C	NCI-TCGA
FAM49A	Q9H0Q0	p.Asn169Ser	rs774983606	missense variant	-	NC_000002.12:g.16561463T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Asp173Asn	rs1298096637	missense variant	-	NC_000002.12:g.16561274C>T	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Glu175Gly	rs1402014689	missense variant	-	NC_000002.12:g.16561267T>C	gnomAD
FAM49A	Q9H0Q0	p.Asn180His	rs376885960	missense variant	-	NC_000002.12:g.16561253T>G	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Asn180Ser	rs1437177678	missense variant	-	NC_000002.12:g.16561252T>C	gnomAD
FAM49A	Q9H0Q0	p.Glu181Asp	rs749758901	missense variant	-	NC_000002.12:g.16561248C>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu181Lys	rs1215764592	missense variant	-	NC_000002.12:g.16561250C>T	TOPMed
FAM49A	Q9H0Q0	p.Met182Thr	rs778107306	missense variant	-	NC_000002.12:g.16561246A>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Met182Val	rs1173754175	missense variant	-	NC_000002.12:g.16561247T>C	gnomAD
FAM49A	Q9H0Q0	p.Met182Ile	rs770256290	missense variant	-	NC_000002.12:g.16561245C>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ala183Val	rs1273307780	missense variant	-	NC_000002.12:g.16561243G>A	TOPMed
FAM49A	Q9H0Q0	p.Asn184Ser	rs748461140	missense variant	-	NC_000002.12:g.16561240T>C	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Arg185Ter	COSM1690218	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16561238G>A	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Arg185Leu	COSM6154405	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561237C>A	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Arg185Gln	rs267598964	missense variant	-	NC_000002.12:g.16561237C>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Met186Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561235T>A	NCI-TCGA
FAM49A	Q9H0Q0	p.Ser187Ala	rs755137896	missense variant	-	NC_000002.12:g.16561232A>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Leu188Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561229G>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Phe189Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561224G>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Tyr190Cys	rs751662313	missense variant	-	NC_000002.12:g.16561222T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu192Lys	COSM3569372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561217C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ala193Thr	rs1202227868	missense variant	-	NC_000002.12:g.16561214C>T	TOPMed
FAM49A	Q9H0Q0	p.Thr194Met	rs758442908	missense variant	-	NC_000002.12:g.16561210G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Pro195Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561208G>C	NCI-TCGA
FAM49A	Q9H0Q0	p.Met196Val	rs1340230848	missense variant	-	NC_000002.12:g.16561205T>C	gnomAD
FAM49A	Q9H0Q0	p.Thr199Ile	rs763925381	missense variant	-	NC_000002.12:g.16561195G>A	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Met205Thr	rs752366810	missense variant	-	NC_000002.12:g.16561177A>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Met205Val	rs1311059079	missense variant	-	NC_000002.12:g.16561178T>C	gnomAD
FAM49A	Q9H0Q0	p.Ser209Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16561165G>A	NCI-TCGA
FAM49A	Q9H0Q0	p.Thr213Pro	COSM181851	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561063T>G	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ile216Val	rs751301503	missense variant	-	NC_000002.12:g.16561054T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Cys222Ser	COSM6154406	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16561035C>G	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Leu223Phe	rs371480642	missense variant	-	NC_000002.12:g.16561033G>A	ESP
FAM49A	Q9H0Q0	p.Ser228Thr	rs569533611	missense variant	-	NC_000002.12:g.16561017C>G	1000Genomes,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ser228Asn	rs569533611	missense variant	-	NC_000002.12:g.16561017C>T	1000Genomes,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu235Val	rs772542184	missense variant	-	NC_000002.12:g.16560996T>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu235Ter	COSM441406	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16560997C>A	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Glu235Lys	COSM3895247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16560997C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Thr236Ser	rs765799244	missense variant	-	NC_000002.12:g.16560994T>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Thr236Ala	rs765799244	missense variant	-	NC_000002.12:g.16560994T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Pro237Leu	rs1251362939	missense variant	-	NC_000002.12:g.16560990G>A	gnomAD
FAM49A	Q9H0Q0	p.Glu238Lys	COSM3895246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559585C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Glu238Ter	rs1235978952	stop gained	-	NC_000002.12:g.16559585C>A	gnomAD
FAM49A	Q9H0Q0	p.Arg240Ile	rs1215628368	missense variant	-	NC_000002.12:g.16559578C>A	gnomAD
FAM49A	Q9H0Q0	p.Ser241Arg	rs1458873419	missense variant	-	NC_000002.12:g.16559576T>G	TOPMed
FAM49A	Q9H0Q0	p.Thr244Leu	NCI-TCGA novel	insertion	-	NC_000002.12:g.16559564_16559565insGAG	NCI-TCGA
FAM49A	Q9H0Q0	p.Thr244Met	rs756679332	missense variant	-	NC_000002.12:g.16559566G>A	gnomAD
FAM49A	Q9H0Q0	p.Thr244Arg	rs756679332	missense variant	-	NC_000002.12:g.16559566G>C	gnomAD
FAM49A	Q9H0Q0	p.Ser245Cys	rs1442277286	missense variant	-	NC_000002.12:g.16559564T>A	TOPMed
FAM49A	Q9H0Q0	p.Ser245Asn	rs754400665	missense variant	-	NC_000002.12:g.16559563C>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu247Asp	rs867826444	missense variant	-	NC_000002.12:g.16559556C>G	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Glu247Gln	COSM3569371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559558C>G	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ile260Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16559518A>T	NCI-TCGA
FAM49A	Q9H0Q0	p.His265Tyr	COSM716959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559504G>A	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Val266Ile	rs1165724719	missense variant	-	NC_000002.12:g.16559501C>T	TOPMed
FAM49A	Q9H0Q0	p.His267Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16559497T>C	NCI-TCGA
FAM49A	Q9H0Q0	p.Pro268Ser	rs761031751	missense variant	-	NC_000002.12:g.16559495G>A	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Ala271SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.16559490_16559491insA	NCI-TCGA
FAM49A	Q9H0Q0	p.Cys273Phe	rs1435501644	missense variant	-	NC_000002.12:g.16559479C>A	gnomAD
FAM49A	Q9H0Q0	p.Thr275Ile	COSM4819613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559473G>A	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ser276Cys	COSM1482158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559470G>C	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Lys277Arg	rs775772258	missense variant	-	NC_000002.12:g.16559467T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Lys277Asn	rs966975936	missense variant	-	NC_000002.12:g.16559466C>G	TOPMed
FAM49A	Q9H0Q0	p.Asp279Tyr	rs759635158	missense variant	-	NC_000002.12:g.16559462C>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Asp279His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16559462C>G	NCI-TCGA
FAM49A	Q9H0Q0	p.Asp279Asn	COSM3569369	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16559462C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Gly282Asp	rs1163618150	missense variant	-	NC_000002.12:g.16555132C>T	TOPMed
FAM49A	Q9H0Q0	p.Ile284Lys	COSM3990722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16555126A>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Lys285Asn	COSM1251904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16555122T>G	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Val286Ile	rs753135702	missense variant	-	NC_000002.12:g.16555121C>T	ExAC
FAM49A	Q9H0Q0	p.Ala291Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16555106C>T	NCI-TCGA
FAM49A	Q9H0Q0	p.Asp293His	rs767810556	missense variant	-	NC_000002.12:g.16555100C>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Asp293His	rs767810556	missense variant	-	NC_000002.12:g.16555100C>G	NCI-TCGA,NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ser294Asn	rs1485694016	missense variant	-	NC_000002.12:g.16555096C>T	gnomAD
FAM49A	Q9H0Q0	p.Ser294Arg	rs1454527933	missense variant	-	NC_000002.12:g.16555097T>G	gnomAD
FAM49A	Q9H0Q0	p.Gly297Glu	COSM3569368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16555087C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ala301Asp	rs1308921966	missense variant	-	NC_000002.12:g.16555075G>T	gnomAD
FAM49A	Q9H0Q0	p.Ala301Val	rs1308921966	missense variant	-	NC_000002.12:g.16555075G>A	gnomAD
FAM49A	Q9H0Q0	p.Thr306Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16552991G>C	NCI-TCGA
FAM49A	Q9H0Q0	p.Thr306Ala	COSM4999023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16552992T>C	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Asp311Asn	COSM3569366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16552977C>T	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ser313Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.16552971A>G	NCI-TCGA
FAM49A	Q9H0Q0	p.Ser313Leu	rs751897701	missense variant	-	NC_000002.12:g.16552970G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Thr314Ala	rs375357516	missense variant	-	NC_000002.12:g.16552968T>C	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Arg319Gly	COSM4846443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.16552953G>C	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Arg319Pro	rs763229345	missense variant	-	NC_000002.12:g.16552952C>G	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Arg319Gln	rs763229345	missense variant	-	NC_000002.12:g.16552952C>T	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Met321Ile	rs955933629	missense variant	-	NC_000002.12:g.16552945C>A	TOPMed
FAM49A	Q9H0Q0	p.Met321Ile	rs955933629	missense variant	-	NC_000002.12:g.16552945C>G	TOPMed
FAM49A	Q9H0Q0	p.Ter324GlnGluUnkThrTerUnkUnk	COSM1400711	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.16552938A>G	NCI-TCGA Cosmic
FAM49A	Q9H0Q0	p.Ile12Ser	rs1322791056	missense variant	-	NC_000002.12:g.16588085A>C	gnomAD
FAM49A	Q9H0Q0	p.Phe19Ser	rs1436176579	missense variant	-	NC_000002.12:g.16588064A>G	gnomAD
FAM49A	Q9H0Q0	p.Ala25Ser	rs1169964068	missense variant	-	NC_000002.12:g.16565765C>A	gnomAD
FAM49A	Q9H0Q0	p.Gln26Arg	rs1475512991	missense variant	-	NC_000002.12:g.16565761T>C	gnomAD
FAM49A	Q9H0Q0	p.Thr28Arg	rs776019279	missense variant	-	NC_000002.12:g.16565755G>C	ExAC,TOPMed
FAM49A	Q9H0Q0	p.Thr28Ala	rs1367531517	missense variant	-	NC_000002.12:g.16565756T>C	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Gly30Glu	rs1185063245	missense variant	-	NC_000002.12:g.16565749C>T	gnomAD
FAM49A	Q9H0Q0	p.Arg32Ter	rs759954624	stop gained	-	NC_000002.12:g.16565744T>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Arg32Lys	rs1441615573	missense variant	-	NC_000002.12:g.16565743C>T	TOPMed
FAM49A	Q9H0Q0	p.Ile34Val	rs774525878	missense variant	-	NC_000002.12:g.16565738T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ile34Leu	rs774525878	missense variant	-	NC_000002.12:g.16565738T>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ile38Thr	rs1259531215	missense variant	-	NC_000002.12:g.16565725A>G	TOPMed
FAM49A	Q9H0Q0	p.Ala40Thr	rs1196461802	missense variant	-	NC_000002.12:g.16565720C>T	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Val41Leu	rs369930472	missense variant	-	NC_000002.12:g.16565717C>G	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Val41Ile	rs369930472	missense variant	-	NC_000002.12:g.16565717C>T	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Ser45Ala	rs1476211857	missense variant	-	NC_000002.12:g.16565705A>C	TOPMed
FAM49A	Q9H0Q0	p.Ile48Leu	rs1341419518	missense variant	-	NC_000002.12:g.16565696T>G	gnomAD
FAM49A	Q9H0Q0	p.Leu49Phe	rs1168125382	missense variant	-	NC_000002.12:g.16565693G>A	TOPMed
FAM49A	Q9H0Q0	p.Ala50Glu	rs773458438	missense variant	-	NC_000002.12:g.16565689G>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Asp51Glu	rs760305450	missense variant	-	NC_000002.12:g.16565685G>T	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Ala54Ser	rs879281805	missense variant	-	NC_000002.12:g.16565678C>A	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Ala58Thr	rs1309243978	missense variant	-	NC_000002.12:g.16565666C>T	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Gly59Asp	rs1410052659	missense variant	-	NC_000002.12:g.16565662C>T	gnomAD
FAM49A	Q9H0Q0	p.Arg63Ter	rs1161086604	stop gained	-	NC_000002.12:g.16565651G>A	gnomAD
FAM49A	Q9H0Q0	p.Asp64Val	rs1293576071	missense variant	-	NC_000002.12:g.16565647T>A	TOPMed
FAM49A	Q9H0Q0	p.Asn70Lys	rs1051375504	missense variant	-	NC_000002.12:g.16564077A>T	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Asn70Asp	rs778888630	missense variant	-	NC_000002.12:g.16564079T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu76Gly	rs770672942	missense variant	-	NC_000002.12:g.16564060T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Asn80Ser	rs1281094866	missense variant	-	NC_000002.12:g.16564048T>C	gnomAD
FAM49A	Q9H0Q0	p.Ala81Val	rs775108109	missense variant	-	NC_000002.12:g.16564045G>A	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Arg88Ser	rs1333522541	missense variant	-	NC_000002.12:g.16564023C>A	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Phe92Leu	rs777462186	missense variant	-	NC_000002.12:g.16564011A>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Tyr93His	rs755707957	missense variant	-	NC_000002.12:g.16564010A>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu94Lys	rs371312049	missense variant	-	NC_000002.12:g.16564007C>T	ESP,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu94Gln	rs371312049	missense variant	-	NC_000002.12:g.16564007C>G	ESP,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ile97Val	rs759325566	missense variant	-	NC_000002.12:g.16563998T>C	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Lys101Gln	rs757674617	missense variant	-	NC_000002.12:g.16562139T>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ala102Val	rs754154704	missense variant	-	NC_000002.12:g.16562135G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu108Asp	rs150652954	missense variant	-	NC_000002.12:g.16562116T>G	1000Genomes,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Pro113Gln	rs1376655065	missense variant	-	NC_000002.12:g.16562102G>T	gnomAD
FAM49A	Q9H0Q0	p.Pro114His	rs1294951607	missense variant	-	NC_000002.12:g.16562099G>T	gnomAD
FAM49A	Q9H0Q0	p.Tyr115Cys	rs775584664	missense variant	-	NC_000002.12:g.16562096T>C	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Thr118Ile	rs762840433	missense variant	-	NC_000002.12:g.16562087G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu130Gly	rs1416348970	missense variant	-	NC_000002.12:g.16562051T>C	gnomAD
FAM49A	Q9H0Q0	p.Glu130Gln	rs1391594211	missense variant	-	NC_000002.12:g.16562052C>G	TOPMed
FAM49A	Q9H0Q0	p.Glu133Lys	rs868184603	missense variant	-	NC_000002.12:g.16562043C>T	gnomAD
FAM49A	Q9H0Q0	p.Arg140Gln	rs146120289	missense variant	-	NC_000002.12:g.16562021C>T	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Arg140Ter	rs776202730	stop gained	-	NC_000002.12:g.16562022G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Pro149Leu	rs759576636	missense variant	-	NC_000002.12:g.16561523G>A	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Ile151Val	rs1401651461	missense variant	-	NC_000002.12:g.16561518T>C	gnomAD
FAM49A	Q9H0Q0	p.Arg160Lys	rs267598965	missense variant	-	NC_000002.12:g.16561490C>T	-
FAM49A	Q9H0Q0	p.Thr161Ile	rs1390522816	missense variant	-	NC_000002.12:g.16561487G>A	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Ser163Asn	rs765143733	missense variant	-	NC_000002.12:g.16561481C>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Arg164Cys	rs761608103	missense variant	-	NC_000002.12:g.16561479G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Asn165Ile	rs138219641	missense variant	-	NC_000002.12:g.16561475T>A	ESP,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Arg166Cys	rs140297141	missense variant	-	NC_000002.12:g.16561473G>A	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Asn169Ser	rs774983606	missense variant	-	NC_000002.12:g.16561463T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Asp173Asn	rs1298096637	missense variant	-	NC_000002.12:g.16561274C>T	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Glu175Gly	rs1402014689	missense variant	-	NC_000002.12:g.16561267T>C	gnomAD
FAM49A	Q9H0Q0	p.Asn180Ser	rs1437177678	missense variant	-	NC_000002.12:g.16561252T>C	gnomAD
FAM49A	Q9H0Q0	p.Asn180His	rs376885960	missense variant	-	NC_000002.12:g.16561253T>G	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Glu181Asp	rs749758901	missense variant	-	NC_000002.12:g.16561248C>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu181Lys	rs1215764592	missense variant	-	NC_000002.12:g.16561250C>T	TOPMed
FAM49A	Q9H0Q0	p.Met182Thr	rs778107306	missense variant	-	NC_000002.12:g.16561246A>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Met182Ile	rs770256290	missense variant	-	NC_000002.12:g.16561245C>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Met182Val	rs1173754175	missense variant	-	NC_000002.12:g.16561247T>C	gnomAD
FAM49A	Q9H0Q0	p.Ala183Val	rs1273307780	missense variant	-	NC_000002.12:g.16561243G>A	TOPMed
FAM49A	Q9H0Q0	p.Asn184Ser	rs748461140	missense variant	-	NC_000002.12:g.16561240T>C	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Arg185Gln	rs267598964	missense variant	-	NC_000002.12:g.16561237C>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ser187Ala	rs755137896	missense variant	-	NC_000002.12:g.16561232A>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Tyr190Cys	rs751662313	missense variant	-	NC_000002.12:g.16561222T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ala193Thr	rs1202227868	missense variant	-	NC_000002.12:g.16561214C>T	TOPMed
FAM49A	Q9H0Q0	p.Thr194Met	rs758442908	missense variant	-	NC_000002.12:g.16561210G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Met196Val	rs1340230848	missense variant	-	NC_000002.12:g.16561205T>C	gnomAD
FAM49A	Q9H0Q0	p.Thr199Ile	rs763925381	missense variant	-	NC_000002.12:g.16561195G>A	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Met205Thr	rs752366810	missense variant	-	NC_000002.12:g.16561177A>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Met205Val	rs1311059079	missense variant	-	NC_000002.12:g.16561178T>C	gnomAD
FAM49A	Q9H0Q0	p.Ile216Val	rs751301503	missense variant	-	NC_000002.12:g.16561054T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Leu223Phe	rs371480642	missense variant	-	NC_000002.12:g.16561033G>A	ESP
FAM49A	Q9H0Q0	p.Ser228Thr	rs569533611	missense variant	-	NC_000002.12:g.16561017C>G	1000Genomes,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ser228Asn	rs569533611	missense variant	-	NC_000002.12:g.16561017C>T	1000Genomes,ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu235Val	rs772542184	missense variant	-	NC_000002.12:g.16560996T>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Thr236Ser	rs765799244	missense variant	-	NC_000002.12:g.16560994T>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Thr236Ala	rs765799244	missense variant	-	NC_000002.12:g.16560994T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Pro237Leu	rs1251362939	missense variant	-	NC_000002.12:g.16560990G>A	gnomAD
FAM49A	Q9H0Q0	p.Glu238Ter	rs1235978952	stop gained	-	NC_000002.12:g.16559585C>A	gnomAD
FAM49A	Q9H0Q0	p.Arg240Ile	rs1215628368	missense variant	-	NC_000002.12:g.16559578C>A	gnomAD
FAM49A	Q9H0Q0	p.Ser241Arg	rs1458873419	missense variant	-	NC_000002.12:g.16559576T>G	TOPMed
FAM49A	Q9H0Q0	p.Thr244Met	rs756679332	missense variant	-	NC_000002.12:g.16559566G>A	gnomAD
FAM49A	Q9H0Q0	p.Thr244Arg	rs756679332	missense variant	-	NC_000002.12:g.16559566G>C	gnomAD
FAM49A	Q9H0Q0	p.Ser245Cys	rs1442277286	missense variant	-	NC_000002.12:g.16559564T>A	TOPMed
FAM49A	Q9H0Q0	p.Ser245Asn	rs754400665	missense variant	-	NC_000002.12:g.16559563C>T	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Glu247Asp	rs867826444	missense variant	-	NC_000002.12:g.16559556C>G	TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Val266Ile	rs1165724719	missense variant	-	NC_000002.12:g.16559501C>T	TOPMed
FAM49A	Q9H0Q0	p.Pro268Ser	rs761031751	missense variant	-	NC_000002.12:g.16559495G>A	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Cys273Phe	rs1435501644	missense variant	-	NC_000002.12:g.16559479C>A	gnomAD
FAM49A	Q9H0Q0	p.Lys277Arg	rs775772258	missense variant	-	NC_000002.12:g.16559467T>C	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Lys277Asn	rs966975936	missense variant	-	NC_000002.12:g.16559466C>G	TOPMed
FAM49A	Q9H0Q0	p.Asp279Tyr	rs759635158	missense variant	-	NC_000002.12:g.16559462C>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Gly282Asp	rs1163618150	missense variant	-	NC_000002.12:g.16555132C>T	TOPMed
FAM49A	Q9H0Q0	p.Val286Ile	rs753135702	missense variant	-	NC_000002.12:g.16555121C>T	ExAC
FAM49A	Q9H0Q0	p.Asp293His	rs767810556	missense variant	-	NC_000002.12:g.16555100C>G	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Ser294Asn	rs1485694016	missense variant	-	NC_000002.12:g.16555096C>T	gnomAD
FAM49A	Q9H0Q0	p.Ser294Arg	rs1454527933	missense variant	-	NC_000002.12:g.16555097T>G	gnomAD
FAM49A	Q9H0Q0	p.Ala301Asp	rs1308921966	missense variant	-	NC_000002.12:g.16555075G>T	gnomAD
FAM49A	Q9H0Q0	p.Ala301Val	rs1308921966	missense variant	-	NC_000002.12:g.16555075G>A	gnomAD
FAM49A	Q9H0Q0	p.Ser313Leu	rs751897701	missense variant	-	NC_000002.12:g.16552970G>A	ExAC,gnomAD
FAM49A	Q9H0Q0	p.Thr314Ala	rs375357516	missense variant	-	NC_000002.12:g.16552968T>C	ESP,ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Arg319Pro	rs763229345	missense variant	-	NC_000002.12:g.16552952C>G	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Arg319Gln	rs763229345	missense variant	-	NC_000002.12:g.16552952C>T	ExAC,TOPMed,gnomAD
FAM49A	Q9H0Q0	p.Met321Ile	rs955933629	missense variant	-	NC_000002.12:g.16552945C>A	TOPMed
FAM49A	Q9H0Q0	p.Met321Ile	rs955933629	missense variant	-	NC_000002.12:g.16552945C>G	TOPMed
ALX4	Q9H161	p.Asn2Ser	rs778621319	missense variant	-	NC_000011.10:g.44310058T>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala3Val	rs1041331414	missense variant	-	NC_000011.10:g.44310055G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Ala3Thr	rs559427156	missense variant	-	NC_000011.10:g.44310056C>T	1000Genomes,ExAC,gnomAD
ALX4	Q9H161	p.Ala3Pro	rs559427156	missense variant	-	NC_000011.10:g.44310056C>G	1000Genomes,ExAC,gnomAD
ALX4	Q9H161	p.Cys6Ter	rs764539399	stop gained	-	NC_000011.10:g.44310045G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Cys6Trp	rs764539399	missense variant	-	NC_000011.10:g.44310045G>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Cys6Arg	rs754405082	missense variant	-	NC_000011.10:g.44310047A>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Val7Ile	rs281865153	missense variant	-	NC_000011.10:g.44310044C>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Val7Leu	rs281865153	missense variant	-	NC_000011.10:g.44310044C>G	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Val7Phe	RCV000074434	missense variant	Craniosynostosis 5, susceptibility to (CRS5)	NC_000011.10:g.44310044C>A	ClinVar
ALX4	Q9H161	p.Val7Phe	rs281865153	missense variant	-	NC_000011.10:g.44310044C>A	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Tyr9His	rs1403383466	missense variant	-	NC_000011.10:g.44310038A>G	gnomAD
ALX4	Q9H161	p.Tyr9Ter	rs1364732070	stop gained	-	NC_000011.10:g.44310036G>C	gnomAD
ALX4	Q9H161	p.Cys10Tyr	rs1303599226	missense variant	-	NC_000011.10:g.44310034C>T	gnomAD
ALX4	Q9H161	p.Cys10Ter	rs767658097	stop gained	-	NC_000011.10:g.44310033G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Glu11Lys	rs1352693640	missense variant	-	NC_000011.10:g.44310032C>T	gnomAD
ALX4	Q9H161	p.Pro13Leu	rs1270999638	missense variant	-	NC_000011.10:g.44310025G>A	gnomAD
ALX4	Q9H161	p.Pro13Ser	rs1458740610	missense variant	-	NC_000011.10:g.44310026G>A	TOPMed
ALX4	Q9H161	p.Ala15Gly	rs766486576	missense variant	-	NC_000011.10:g.44310019G>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala15Ser	rs1421073733	missense variant	-	NC_000011.10:g.44310020C>A	gnomAD
ALX4	Q9H161	p.Ala15Asp	rs766486576	missense variant	-	NC_000011.10:g.44310019G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala16Val	rs1479937507	missense variant	-	NC_000011.10:g.44310016G>A	gnomAD
ALX4	Q9H161	p.Met17Val	rs1200602730	missense variant	-	NC_000011.10:g.44310014T>C	gnomAD
ALX4	Q9H161	p.Met17Arg	rs1489729247	missense variant	-	NC_000011.10:g.44310013A>C	TOPMed,gnomAD
ALX4	Q9H161	p.Met17Lys	rs1489729247	missense variant	-	NC_000011.10:g.44310013A>T	TOPMed,gnomAD
ALX4	Q9H161	p.Asp18Asn	rs762975194	missense variant	-	NC_000011.10:g.44310011C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asp18Val	rs1408623809	missense variant	-	NC_000011.10:g.44310010T>A	TOPMed
ALX4	Q9H161	p.Asp18Tyr	rs762975194	missense variant	-	NC_000011.10:g.44310011C>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala19Ser	rs931085887	missense variant	-	NC_000011.10:g.44310008C>A	TOPMed
ALX4	Q9H161	p.Tyr21Cys	rs374650044	missense variant	-	NC_000011.10:g.44310001T>C	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Tyr21His	rs949272605	missense variant	-	NC_000011.10:g.44310002A>G	TOPMed,gnomAD
ALX4	Q9H161	p.Pro23Leu	rs775495740	missense variant	-	NC_000011.10:g.44309995G>A	ExAC,gnomAD
ALX4	Q9H161	p.Pro23Ser	rs746753665	missense variant	-	NC_000011.10:g.44309996G>A	ExAC,gnomAD
ALX4	Q9H161	p.Ser25Leu	rs1252436146	missense variant	-	NC_000011.10:g.44309989G>A	TOPMed
ALX4	Q9H161	p.Arg28Gln	rs748769921	missense variant	-	NC_000011.10:g.44309980C>T	ExAC,gnomAD
ALX4	Q9H161	p.Arg28Pro	rs748769921	missense variant	-	NC_000011.10:g.44309980C>G	ExAC,gnomAD
ALX4	Q9H161	p.Glu29Lys	rs1355757602	missense variant	-	NC_000011.10:g.44309978C>T	gnomAD
ALX4	Q9H161	p.Gly30Ser	rs1468902552	missense variant	-	NC_000011.10:g.44309975C>T	gnomAD
ALX4	Q9H161	p.Gly30Asp	rs370055325	missense variant	-	NC_000011.10:g.44309974C>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ser31Thr	rs990702443	missense variant	-	NC_000011.10:g.44309972A>T	TOPMed
ALX4	Q9H161	p.Phe34Leu	rs1435259531	missense variant	-	NC_000011.10:g.44309963A>G	gnomAD
ALX4	Q9H161	p.Arg35Thr	rs3824915	missense variant	-	NC_000011.10:g.44309959C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg35Ser	rs753099218	missense variant	-	NC_000011.10:g.44309958C>A	ExAC,gnomAD
ALX4	Q9H161	p.Arg35Thr	RCV000352665	missense variant	Enlarged parietal foramina	NC_000011.10:g.44309959C>G	ClinVar
ALX4	Q9H161	p.Phe37Leu	rs767919976	missense variant	-	NC_000011.10:g.44309954A>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro38Ser	rs755162732	missense variant	-	NC_000011.10:g.44309951G>A	ExAC,gnomAD
ALX4	Q9H161	p.Pro38Ala	rs755162732	missense variant	-	NC_000011.10:g.44309951G>C	ExAC,gnomAD
ALX4	Q9H161	p.Pro38His	rs1201859491	missense variant	-	NC_000011.10:g.44309950G>T	TOPMed,gnomAD
ALX4	Q9H161	p.Pro38Leu	rs1201859491	missense variant	-	NC_000011.10:g.44309950G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Gly39Arg	rs1263963839	missense variant	-	NC_000011.10:g.44309948C>T	TOPMed,gnomAD
ALX4	Q9H161	p.Gly40Asp	rs763035360	missense variant	-	NC_000011.10:g.44309944C>T	ExAC,gnomAD
ALX4	Q9H161	p.Asp41Asn	rs373566188	missense variant	-	NC_000011.10:g.44309942C>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Lys42Asn	rs369346595	missense variant	-	NC_000011.10:g.44309937C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Lys42Arg	rs1379024536	missense variant	-	NC_000011.10:g.44309938T>C	gnomAD
ALX4	Q9H161	p.Gly44Ser	rs775401450	missense variant	-	NC_000011.10:g.44309933C>T	ExAC,gnomAD
ALX4	Q9H161	p.Gly44Cys	rs775401450	missense variant	-	NC_000011.10:g.44309933C>A	ExAC,gnomAD
ALX4	Q9H161	p.Phe47Leu	rs772029021	missense variant	-	NC_000011.10:g.44309922G>C	ExAC,gnomAD
ALX4	Q9H161	p.Leu48Pro	rs745685096	missense variant	-	NC_000011.10:g.44309920A>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ser49Leu	rs764877187	missense variant	-	NC_000011.10:g.44309917G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala50Thr	rs374868143	missense variant	-	NC_000011.10:g.44309915C>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala51Val	rs1460901603	missense variant	-	NC_000011.10:g.44309911G>A	gnomAD
ALX4	Q9H161	p.Ala52Thr	rs868625607	missense variant	-	NC_000011.10:g.44309909C>T	TOPMed,gnomAD
ALX4	Q9H161	p.Ala54Thr	rs1485021565	missense variant	-	NC_000011.10:g.44309903C>T	gnomAD
ALX4	Q9H161	p.Gln55Arg	rs756623127	missense variant	-	NC_000011.10:g.44309899T>C	ExAC,gnomAD
ALX4	Q9H161	p.Gly56Glu	rs1355701882	missense variant	-	NC_000011.10:g.44309896C>T	gnomAD
ALX4	Q9H161	p.Phe57Cys	rs1010707471	missense variant	-	NC_000011.10:g.44309893A>C	TOPMed
ALX4	Q9H161	p.Gly58Arg	rs748695888	missense variant	-	NC_000011.10:g.44309891C>T	ExAC,gnomAD
ALX4	Q9H161	p.Gly58Glu	rs1245205062	missense variant	-	NC_000011.10:g.44309890C>T	TOPMed,gnomAD
ALX4	Q9H161	p.Asp59Tyr	rs781687811	missense variant	-	NC_000011.10:g.44309888C>A	ExAC,gnomAD
ALX4	Q9H161	p.Ser62Arg	rs371338431	missense variant	-	NC_000011.10:g.44309877G>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg63Gln	rs372830230	missense variant	-	NC_000011.10:g.44309875C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg63Pro	rs372830230	missense variant	-	NC_000011.10:g.44309875C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg63Gln	RCV000295519	missense variant	Enlarged parietal foramina	NC_000011.10:g.44309875C>T	ClinVar
ALX4	Q9H161	p.Arg65His	rs865794180	missense variant	-	NC_000011.10:g.44309869C>T	gnomAD
ALX4	Q9H161	p.Arg65Cys	rs1288616124	missense variant	-	NC_000011.10:g.44309870G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Arg65Gly	rs1288616124	missense variant	-	NC_000011.10:g.44309870G>C	TOPMed,gnomAD
ALX4	Q9H161	p.Arg65Leu	rs865794180	missense variant	-	NC_000011.10:g.44309869C>A	gnomAD
ALX4	Q9H161	p.Gly67Ser	rs1474230398	missense variant	-	NC_000011.10:g.44309864C>T	gnomAD
ALX4	Q9H161	p.Ala68Ser	rs1162216104	missense variant	-	NC_000011.10:g.44309861C>A	gnomAD
ALX4	Q9H161	p.Ala68Thr	rs1162216104	missense variant	-	NC_000011.10:g.44309861C>T	gnomAD
ALX4	Q9H161	p.Gln71Ter	rs1444624260	stop gained	-	NC_000011.10:g.44309852G>A	gnomAD
ALX4	Q9H161	p.Thr75Ile	rs1450916767	missense variant	-	NC_000011.10:g.44309839G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Pro76Thr	rs79200219	missense variant	-	NC_000011.10:g.44309837G>T	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro76Leu	rs1426917397	missense variant	-	NC_000011.10:g.44309836G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Leu77Pro	rs1458033088	missense variant	-	NC_000011.10:g.44309833A>G	gnomAD
ALX4	Q9H161	p.Ser79Arg	rs1489132797	missense variant	-	NC_000011.10:g.44309826A>T	gnomAD
ALX4	Q9H161	p.Gly80Glu	rs1289415293	missense variant	-	NC_000011.10:g.44309824C>T	gnomAD
ALX4	Q9H161	p.Gly85Val	rs868679217	missense variant	-	NC_000011.10:g.44309809C>A	TOPMed,gnomAD
ALX4	Q9H161	p.Gly85Ser	rs765279140	missense variant	-	NC_000011.10:g.44309810C>T	ExAC,gnomAD
ALX4	Q9H161	p.Gly85Asp	rs868679217	missense variant	-	NC_000011.10:g.44309809C>T	TOPMed,gnomAD
ALX4	Q9H161	p.Gly85Ter	RCV000486693	frameshift	-	NC_000011.10:g.44309812del	ClinVar
ALX4	Q9H161	p.Ser86Phe	rs1295821461	missense variant	-	NC_000011.10:g.44309806G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Ser86Tyr	rs1295821461	missense variant	-	NC_000011.10:g.44309806G>T	TOPMed,gnomAD
ALX4	Q9H161	p.Phe87Leu	rs1364168524	missense variant	-	NC_000011.10:g.44309804A>G	TOPMed
ALX4	Q9H161	p.Asn88His	rs1401534861	missense variant	-	NC_000011.10:g.44309801T>G	gnomAD
ALX4	Q9H161	p.Pro92Thr	rs1303302097	missense variant	-	NC_000011.10:g.44309789G>T	TOPMed
ALX4	Q9H161	p.Pro92Arg	rs1036676266	missense variant	-	NC_000011.10:g.44309788G>C	TOPMed,gnomAD
ALX4	Q9H161	p.Gln93Glu	rs1301693385	missense variant	-	NC_000011.10:g.44309786G>C	gnomAD
ALX4	Q9H161	p.Pro94Ser	rs760627532	missense variant	-	NC_000011.10:g.44309783G>A	ExAC
ALX4	Q9H161	p.Pro94Gln	rs752638029	missense variant	-	NC_000011.10:g.44309782G>T	ExAC
ALX4	Q9H161	p.Pro94Ser	RCV000348915	missense variant	Enlarged parietal foramina	NC_000011.10:g.44309783G>A	ClinVar
ALX4	Q9H161	p.Thr96Pro	rs941831324	missense variant	-	NC_000011.10:g.44309777T>G	gnomAD
ALX4	Q9H161	p.Gln98Lys	rs759346076	missense variant	-	NC_000011.10:g.44309771G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gln98His	rs774293144	missense variant	-	NC_000011.10:g.44309769C>A	ExAC
ALX4	Q9H161	p.Gln98Pro	rs1048397060	missense variant	-	NC_000011.10:g.44309770T>G	TOPMed
ALX4	Q9H161	p.Gln98Ter	RCV000210924	frameshift	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44309772del	ClinVar
ALX4	Q9H161	p.Pro99Thr	rs770611828	missense variant	-	NC_000011.10:g.44309768G>T	ExAC
ALX4	Q9H161	p.Pro99His	rs762569952	missense variant	-	NC_000011.10:g.44309767G>T	ExAC
ALX4	Q9H161	p.Gln100Arg	rs769148200	missense variant	-	NC_000011.10:g.44309764T>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gln100Lys	rs772749428	missense variant	-	NC_000011.10:g.44309765G>T	ExAC
ALX4	Q9H161	p.Pro101Arg	rs747680014	missense variant	-	NC_000011.10:g.44309761G>C	ExAC,gnomAD
ALX4	Q9H161	p.Pro102Ser	RCV000282185	missense variant	Enlarged parietal foramina	NC_000011.10:g.44309759G>A	ClinVar
ALX4	Q9H161	p.Pro102Ser	rs12421995	missense variant	-	NC_000011.10:g.44309759G>A	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro102Arg	rs747374643	missense variant	-	NC_000011.10:g.44309758G>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro102Gln	rs747374643	missense variant	-	NC_000011.10:g.44309758G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro102Leu	rs747374643	missense variant	-	NC_000011.10:g.44309758G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gln104Glu	rs780343108	missense variant	-	NC_000011.10:g.44309753G>C	ExAC,gnomAD
ALX4	Q9H161	p.Gln104Pro	rs758621060	missense variant	-	NC_000011.10:g.44309752T>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro105Gln	rs750648485	missense variant	-	NC_000011.10:g.44309749G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro105Leu	rs750648485	missense variant	-	NC_000011.10:g.44309749G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gln106Pro	rs1332085438	missense variant	-	NC_000011.10:g.44309746T>G	TOPMed,gnomAD
ALX4	Q9H161	p.Pro107Arg	rs1387705323	missense variant	-	NC_000011.10:g.44309743G>C	TOPMed
ALX4	Q9H161	p.Pro107Ser	rs1390237266	missense variant	-	NC_000011.10:g.44309744G>A	gnomAD
ALX4	Q9H161	p.Gln108Ter	rs1171498265	stop gained	-	NC_000011.10:g.44309741G>A	gnomAD
ALX4	Q9H161	p.Gln109Pro	rs767495097	missense variant	-	NC_000011.10:g.44309737T>G	ExAC,TOPMed
ALX4	Q9H161	p.Gln109Ter	rs1467320510	stop gained	-	NC_000011.10:g.44309738G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Gln110Pro	rs866420250	missense variant	-	NC_000011.10:g.44309734T>G	TOPMed,gnomAD
ALX4	Q9H161	p.Gln110Arg	rs866420250	missense variant	-	NC_000011.10:g.44309734T>C	TOPMed,gnomAD
ALX4	Q9H161	p.Gln111Ter	rs1175384200	stop gained	-	NC_000011.10:g.44309732G>A	gnomAD
ALX4	Q9H161	p.Gln111Pro	rs759611855	missense variant	-	NC_000011.10:g.44309731T>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro112Gln	rs751385178	missense variant	-	NC_000011.10:g.44309728G>T	ExAC,TOPMed
ALX4	Q9H161	p.Pro112Leu	rs751385178	missense variant	-	NC_000011.10:g.44309728G>A	ExAC,TOPMed
ALX4	Q9H161	p.Pro114Leu	rs1437176848	missense variant	-	NC_000011.10:g.44309722G>A	gnomAD
ALX4	Q9H161	p.Gln115Pro	rs762839322	missense variant	-	NC_000011.10:g.44309719T>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro116Arg	rs772691401	missense variant	-	NC_000011.10:g.44309716G>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro116Gln	rs772691401	missense variant	-	NC_000011.10:g.44309716G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro117Ser	rs1032391238	missense variant	-	NC_000011.10:g.44309714G>A	gnomAD
ALX4	Q9H161	p.Pro117Leu	rs1223788066	missense variant	-	NC_000011.10:g.44309713G>A	gnomAD
ALX4	Q9H161	p.Pro120Leu	rs186600034	missense variant	-	NC_000011.10:g.44309704G>A	1000Genomes
ALX4	Q9H161	p.Pro120Ala	rs1277035075	missense variant	-	NC_000011.10:g.44309705G>C	TOPMed,gnomAD
ALX4	Q9H161	p.His121Leu	rs1348762277	missense variant	-	NC_000011.10:g.44309701T>A	TOPMed
ALX4	Q9H161	p.His121Tyr	rs1335695378	missense variant	-	NC_000011.10:g.44309702G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Leu124Phe	rs1449121107	missense variant	-	NC_000011.10:g.44309691C>G	TOPMed,gnomAD
ALX4	Q9H161	p.Arg126Gln	rs1404064476	missense variant	-	NC_000011.10:g.44309686C>T	gnomAD
ALX4	Q9H161	p.Arg126Pro	rs1404064476	missense variant	-	NC_000011.10:g.44309686C>G	gnomAD
ALX4	Q9H161	p.Gly127Asp	rs1336288510	missense variant	-	NC_000011.10:g.44309683C>T	gnomAD
ALX4	Q9H161	p.Ala128Thr	rs1426934275	missense variant	-	NC_000011.10:g.44309681C>T	gnomAD
ALX4	Q9H161	p.Cys129Ter	RCV000005322	frameshift	Parietal foramina 2 (PFM2)	NC_000011.10:g.44309670_44309679del	ClinVar
ALX4	Q9H161	p.Cys129Ser	rs1469529527	missense variant	-	NC_000011.10:g.44309677C>G	gnomAD
ALX4	Q9H161	p.Cys129Tyr	rs1469529527	missense variant	-	NC_000011.10:g.44309677C>T	gnomAD
ALX4	Q9H161	p.Lys130Thr	rs1180480531	missense variant	-	NC_000011.10:g.44309674T>G	gnomAD
ALX4	Q9H161	p.Thr131Lys	rs776145976	missense variant	-	NC_000011.10:g.44309671G>T	gnomAD
ALX4	Q9H161	p.Thr131Ala	rs747567353	missense variant	-	NC_000011.10:g.44309672T>C	ExAC,gnomAD
ALX4	Q9H161	p.Thr131Met	rs776145976	missense variant	-	NC_000011.10:g.44309671G>A	gnomAD
ALX4	Q9H161	p.Pro132His	rs534395095	missense variant	-	NC_000011.10:g.44309668G>T	1000Genomes,ExAC,gnomAD
ALX4	Q9H161	p.Pro133Ter	RCV000489069	frameshift	-	NC_000011.10:g.44309669del	ClinVar
ALX4	Q9H161	p.Pro133Ser	rs1281091685	missense variant	-	NC_000011.10:g.44309666G>A	gnomAD
ALX4	Q9H161	p.Asp134Asn	rs1350528834	missense variant	-	NC_000011.10:g.44309663C>T	gnomAD
ALX4	Q9H161	p.Gly135Ser	rs772281686	missense variant	-	NC_000011.10:g.44309660C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Leu137Phe	rs1380673100	missense variant	-	NC_000011.10:g.44309654G>A	gnomAD
ALX4	Q9H161	p.Gln140Ter	rs104894191	stop gained	Parietal foramina 2 (pfm2)	NC_000011.10:g.44309645G>A	-
ALX4	Q9H161	p.Gln140Ter	RCV000005316	nonsense	Parietal foramina 2 (PFM2)	NC_000011.10:g.44309645G>A	ClinVar
ALX4	Q9H161	p.Glu141Lys	rs959308498	missense variant	-	NC_000011.10:g.44309642C>T	TOPMed
ALX4	Q9H161	p.Gly142Asp	rs778941350	missense variant	-	NC_000011.10:g.44309638C>T	ExAC,gnomAD
ALX4	Q9H161	p.Ser147Asn	rs374726657	missense variant	-	NC_000011.10:g.44309623C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Leu150Trp	rs1443974757	missense variant	-	NC_000011.10:g.44309614A>C	TOPMed,gnomAD
ALX4	Q9H161	p.Leu150Phe	rs1384019912	missense variant	-	NC_000011.10:g.44309613C>A	gnomAD
ALX4	Q9H161	p.Leu150Ser	rs1443974757	missense variant	-	NC_000011.10:g.44309614A>G	TOPMed,gnomAD
ALX4	Q9H161	p.Gln151Lys	rs1181946890	missense variant	-	NC_000011.10:g.44309612G>T	gnomAD
ALX4	Q9H161	p.Val152Leu	rs754942746	missense variant	-	NC_000011.10:g.44309609C>G	ExAC,gnomAD
ALX4	Q9H161	p.Val152Phe	rs754942746	missense variant	-	NC_000011.10:g.44309609C>A	ExAC,gnomAD
ALX4	Q9H161	p.Pro153Ser	rs1240024957	missense variant	-	NC_000011.10:g.44309606G>A	gnomAD
ALX4	Q9H161	p.Pro153Arg	rs1214694720	missense variant	-	NC_000011.10:g.44309605G>C	gnomAD
ALX4	Q9H161	p.Cys154Ser	rs182274454	missense variant	-	NC_000011.10:g.44309603A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Cys154Phe	rs1287276795	missense variant	-	NC_000011.10:g.44309602C>A	gnomAD
ALX4	Q9H161	p.Cys154Tyr	rs1287276795	missense variant	-	NC_000011.10:g.44309602C>T	gnomAD
ALX4	Q9H161	p.Glu158Asp	rs553689111	missense variant	-	NC_000011.10:g.44275651C>G	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gly162Ser	rs1267183405	missense variant	-	NC_000011.10:g.44275641C>T	gnomAD
ALX4	Q9H161	p.Glu163Ter	rs371740812	stop gained	-	NC_000011.10:g.44275638C>A	ESP
ALX4	Q9H161	p.Pro164Ser	rs1332937408	missense variant	-	NC_000011.10:g.44275635G>A	TOPMed
ALX4	Q9H161	p.Glu165Val	rs779790993	missense variant	-	NC_000011.10:g.44275631T>A	ExAC,gnomAD
ALX4	Q9H161	p.Leu166Ser	rs758432138	missense variant	-	NC_000011.10:g.44275628A>G	ExAC,gnomAD
ALX4	Q9H161	p.Pro167Thr	rs1458347692	missense variant	-	NC_000011.10:g.44275626G>T	gnomAD
ALX4	Q9H161	p.Pro168Ser	rs750173751	missense variant	-	NC_000011.10:g.44275623G>A	ExAC,gnomAD
ALX4	Q9H161	p.Pro168Ter	RCV000170519	frameshift	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44275626del	ClinVar
ALX4	Q9H161	p.Asp169His	rs954730060	missense variant	-	NC_000011.10:g.44275620C>G	TOPMed
ALX4	Q9H161	p.Asp169Ter	RCV000005319	frameshift	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275621del	ClinVar
ALX4	Q9H161	p.Val173Ala	rs765070227	missense variant	-	NC_000011.10:g.44275607A>G	ExAC,gnomAD
ALX4	Q9H161	p.Gly174Glu	rs1360152323	missense variant	-	NC_000011.10:g.44275604C>T	gnomAD
ALX4	Q9H161	p.Met175Ile	rs1220821904	missense variant	-	NC_000011.10:g.44275600C>T	gnomAD
ALX4	Q9H161	p.Asp176Glu	rs376287400	missense variant	-	NC_000011.10:g.44275597G>C	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asp176Gly	rs756876669	missense variant	-	NC_000011.10:g.44275598T>C	ExAC,gnomAD
ALX4	Q9H161	p.Ser178Arg	rs763754428	missense variant	-	NC_000011.10:g.44275591G>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Tyr179His	rs1230393027	missense variant	-	NC_000011.10:g.44275590A>G	TOPMed
ALX4	Q9H161	p.Leu180Val	rs775067051	missense variant	-	NC_000011.10:g.44275587G>C	ExAC,gnomAD
ALX4	Q9H161	p.Lys183Glu	rs368396709	missense variant	-	NC_000011.10:g.44275578T>C	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala185Thr	rs996306671	missense variant	-	NC_000011.10:g.44275572C>T	TOPMed
ALX4	Q9H161	p.Val187Met	rs1433726843	missense variant	-	NC_000011.10:g.44275566C>T	TOPMed,gnomAD
ALX4	Q9H161	p.Pro190Leu	rs143620051	missense variant	-	NC_000011.10:g.44275556G>A	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro190His	rs143620051	missense variant	-	NC_000011.10:g.44275556G>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro190Leu	RCV000260368	missense variant	Enlarged parietal foramina	NC_000011.10:g.44275556G>A	ClinVar
ALX4	Q9H161	p.Asp192Glu	rs1159960276	missense variant	-	NC_000011.10:g.44275549G>C	TOPMed,gnomAD
ALX4	Q9H161	p.Arg193Gln	rs201303900	missense variant	-	NC_000011.10:g.44275547C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg193Trp	rs773510510	missense variant	-	NC_000011.10:g.44275548G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala194Asp	rs748173197	missense variant	-	NC_000011.10:g.44275544G>T	ExAC,gnomAD
ALX4	Q9H161	p.Pro199Leu	rs758249273	missense variant	-	NC_000011.10:g.44275529G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro199Leu	RCV000426270	missense variant	-	NC_000011.10:g.44275529G>A	ClinVar
ALX4	Q9H161	p.Ser200Arg	rs1156905338	missense variant	-	NC_000011.10:g.44275525G>T	TOPMed
ALX4	Q9H161	p.Pro201Ser	rs745862299	missense variant	-	NC_000011.10:g.44275524G>A	ExAC
ALX4	Q9H161	p.Leu202Trp	rs150424138	missense variant	-	NC_000011.10:g.44275520A>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala205Ser	rs753642057	missense variant	-	NC_000011.10:g.44275512C>A	ExAC,gnomAD
ALX4	Q9H161	p.Asp206Asn	rs140457891	missense variant	-	NC_000011.10:g.44275509C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ser207Ter	RCV000005321	nonsense	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275505G>T	ClinVar
ALX4	Q9H161	p.Ser207Leu	rs104894197	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275505G>A	ExAC,gnomAD
ALX4	Q9H161	p.Ser207Ter	rs104894197	stop gained	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275505G>T	ExAC,gnomAD
ALX4	Q9H161	p.Glu208Asp	rs1440914540	missense variant	-	NC_000011.10:g.44275501C>G	gnomAD
ALX4	Q9H161	p.Ser209Thr	rs1484817238	missense variant	-	NC_000011.10:g.44275499C>G	gnomAD
ALX4	Q9H161	p.Ser209Arg	rs568863681	missense variant	-	NC_000011.10:g.44275498G>T	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asn210His	rs1217471125	missense variant	-	NC_000011.10:g.44275497T>G	gnomAD
ALX4	Q9H161	p.Lys211Thr	rs1226922208	missense variant	-	NC_000011.10:g.44275493T>G	TOPMed
ALX4	Q9H161	p.Lys211Glu	rs281865154	missense variant	-	NC_000011.10:g.44275494T>C	-
ALX4	Q9H161	p.Lys211Glu	RCV000074435	missense variant	Craniosynostosis 5, susceptibility to (CRS5)	NC_000011.10:g.44275494T>C	ClinVar
ALX4	Q9H161	p.Arg215Trp	rs770130333	missense variant	-	NC_000011.10:g.44275482G>A	ExAC,gnomAD
ALX4	Q9H161	p.Arg215Gln	rs370195126	missense variant	-	NC_000011.10:g.44275481C>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg216Gln	rs1014714152	missense variant	-	NC_000011.10:g.44275478C>T	TOPMed
ALX4	Q9H161	p.Arg216Gly	rs587777700	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275479G>C	ExAC,gnomAD
ALX4	Q9H161	p.Arg216Trp	rs587777700	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275479G>A	ExAC,gnomAD
ALX4	Q9H161	p.Arg216Gly	RCV000144036	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275479G>C	ClinVar
ALX4	Q9H161	p.Arg218Gln	rs104894193	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275472C>T	ExAC,gnomAD
ALX4	Q9H161	p.Arg218Gln	rs104894193	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275472C>T	UniProt,dbSNP
ALX4	Q9H161	p.Arg218Gln	VAR_010785	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275472C>T	UniProt
ALX4	Q9H161	p.Arg218Gln	RCV000005318	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275472C>T	ClinVar
ALX4	Q9H161	p.Arg218Trp	rs138094422	missense variant	-	NC_000011.10:g.44275473G>A	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gln225Glu	rs587777701	missense variant	Frontonasal dysplasia 2 (fnd2)	NC_000011.10:g.44275452G>C	-
ALX4	Q9H161	p.Gln225Glu	RCV000144037	missense variant	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44275452G>C	ClinVar
ALX4	Q9H161	p.Glu227Gly	rs755698536	missense variant	-	NC_000011.10:g.44275445T>C	ExAC,gnomAD
ALX4	Q9H161	p.Glu227Lys	rs376402455	missense variant	-	NC_000011.10:g.44275446C>T	ESP,ExAC,gnomAD
ALX4	Q9H161	p.Glu228Lys	rs201889959	missense variant	-	NC_000011.10:g.44275443C>T	1000Genomes
ALX4	Q9H161	p.Leu229Met	rs780739319	missense variant	-	NC_000011.10:g.44275440G>T	ExAC,gnomAD
ALX4	Q9H161	p.Lys231Arg	rs1472169793	missense variant	-	NC_000011.10:g.44275433T>C	TOPMed
ALX4	Q9H161	p.Gln234Pro	rs754454206	missense variant	-	NC_000011.10:g.44275424T>G	ExAC,gnomAD
ALX4	Q9H161	p.Val241Met	rs750798110	missense variant	-	NC_000011.10:g.44275404C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Val241Leu	rs750798110	missense variant	-	NC_000011.10:g.44275404C>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala243Val	rs145166164	missense variant	-	NC_000011.10:g.44275397G>A	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala243Val	RCV000266092	missense variant	Enlarged parietal foramina	NC_000011.10:g.44275397G>A	ClinVar
ALX4	Q9H161	p.Arg244Trp	rs1167159867	missense variant	-	NC_000011.10:g.44275395G>A	gnomAD
ALX4	Q9H161	p.Arg244Gln	rs1426973957	missense variant	-	NC_000011.10:g.44275394C>T	gnomAD
ALX4	Q9H161	p.Gln246Ter	RCV000005317	nonsense	Parietal foramina 2 (PFM2)	NC_000011.10:g.44275389G>A	ClinVar
ALX4	Q9H161	p.Gln246Ter	rs104894192	stop gained	Parietal foramina 2 (pfm2)	NC_000011.10:g.44275389G>A	-
ALX4	Q9H161	p.Leu247Met	rs776867365	missense variant	-	NC_000011.10:g.44275386G>T	ExAC,gnomAD
ALX4	Q9H161	p.Met249Thr	rs760676423	missense variant	-	NC_000011.10:g.44275379A>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg250Thr	rs986694906	missense variant	-	NC_000011.10:g.44275376C>G	TOPMed,gnomAD
ALX4	Q9H161	p.Arg250Ser	rs888638764	missense variant	-	NC_000011.10:g.44275375C>A	TOPMed
ALX4	Q9H161	p.Arg257Cys	rs528383817	missense variant	-	NC_000011.10:g.44275356G>A	1000Genomes,ExAC,gnomAD
ALX4	Q9H161	p.Arg257His	rs200419726	missense variant	-	NC_000011.10:g.44275355C>T	ExAC,gnomAD
ALX4	Q9H161	p.Val258Met	rs747909089	missense variant	-	NC_000011.10:g.44275353C>T	ExAC,gnomAD
ALX4	Q9H161	p.Val258Leu	rs747909089	missense variant	-	NC_000011.10:g.44275353C>A	ExAC,gnomAD
ALX4	Q9H161	p.Gln263Ter	RCV000778324	nonsense	Parietal foramina 2 (PFM2)	NC_000011.10:g.44267613G>A	ClinVar
ALX4	Q9H161	p.Asn264Ser	rs759545911	missense variant	-	NC_000011.10:g.44267609T>C	ExAC,gnomAD
ALX4	Q9H161	p.Arg265Ter	rs267606653	stop gained	Frontonasal dysplasia 2 (fnd2)	NC_000011.10:g.44267607G>A	-
ALX4	Q9H161	p.Arg265Ter	RCV000005323	nonsense	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44267607G>A	ClinVar
ALX4	Q9H161	p.Arg265Ter	RCV000623177	nonsense	Inborn genetic diseases	NC_000011.10:g.44267607G>A	ClinVar
ALX4	Q9H161	p.Arg265Gln	rs765208460	missense variant	-	NC_000011.10:g.44267606C>T	ExAC,gnomAD
ALX4	Q9H161	p.Arg265Leu	rs765208460	missense variant	-	NC_000011.10:g.44267606C>A	ExAC,gnomAD
ALX4	Q9H161	p.Ala267Val	rs1224334152	missense variant	-	NC_000011.10:g.44267600G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Ala267Thr	rs1240440436	missense variant	-	NC_000011.10:g.44267601C>T	TOPMed,gnomAD
ALX4	Q9H161	p.Arg272Pro	rs104894196	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44267585C>G	UniProt,dbSNP
ALX4	Q9H161	p.Arg272Pro	VAR_010897	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44267585C>G	UniProt
ALX4	Q9H161	p.Arg272Pro	rs104894196	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44267585C>G	gnomAD
ALX4	Q9H161	p.Arg272Gln	rs104894196	missense variant	Parietal foramina 2 (pfm2)	NC_000011.10:g.44267585C>T	gnomAD
ALX4	Q9H161	p.Arg272Pro	RCV000005320	missense variant	Parietal foramina 2 (PFM2)	NC_000011.10:g.44267585C>G	ClinVar
ALX4	Q9H161	p.Arg274Cys	rs746826513	missense variant	-	NC_000011.10:g.44267580G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg274His	rs368050443	missense variant	-	NC_000011.10:g.44267579C>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Phe275Ser	rs1333208956	missense variant	-	NC_000011.10:g.44267576A>G	gnomAD
ALX4	Q9H161	p.Gln277His	rs530368100	missense variant	-	NC_000011.10:g.44267569C>G	1000Genomes,TOPMed
ALX4	Q9H161	p.Gln279Lys	rs771851241	missense variant	-	NC_000011.10:g.44267565G>T	ExAC,gnomAD
ALX4	Q9H161	p.Arg282Gln	rs144440589	missense variant	-	NC_000011.10:g.44267555C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg282Ter	rs1156752533	stop gained	-	NC_000011.10:g.44267556G>A	gnomAD
ALX4	Q9H161	p.Arg282Pro	rs144440589	missense variant	-	NC_000011.10:g.44267555C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Thr283Asn	rs771444101	missense variant	-	NC_000011.10:g.44267552G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Thr287Ser	rs1163966653	missense variant	-	NC_000011.10:g.44267540G>C	TOPMed
ALX4	Q9H161	p.Ala288Ser	rs1180005375	missense variant	-	NC_000011.10:g.44267538C>A	gnomAD
ALX4	Q9H161	p.Ala288Val	rs1231817169	missense variant	-	NC_000011.10:g.44267537G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Tyr289Cys	rs1320494944	missense variant	-	NC_000011.10:g.44267534T>C	TOPMed,gnomAD
ALX4	Q9H161	p.Pro292His	rs1471576532	missense variant	-	NC_000011.10:g.44267525G>T	gnomAD
ALX4	Q9H161	p.Thr295Ser	rs756421390	missense variant	-	NC_000011.10:g.44267516G>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Thr295Ile	rs756421390	missense variant	-	NC_000011.10:g.44267516G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg296Gly	rs753073089	missense variant	-	NC_000011.10:g.44267514G>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg296Gln	rs144961504	missense variant	-	NC_000011.10:g.44267513C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asn299Ser	rs1247413232	missense variant	-	NC_000011.10:g.44267504T>C	TOPMed
ALX4	Q9H161	p.Ala301Ser	rs766411205	missense variant	-	NC_000011.10:g.44267499C>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala301Thr	rs766411205	missense variant	-	NC_000011.10:g.44267499C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asn305Lys	rs748695742	missense variant	-	NC_000011.10:g.44265175G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro306Leu	rs149897209	missense variant	-	NC_000011.10:g.44265173G>A	UniProt,dbSNP
ALX4	Q9H161	p.Pro306Leu	VAR_069281	missense variant	-	NC_000011.10:g.44265173G>A	UniProt
ALX4	Q9H161	p.Pro306Leu	rs149897209	missense variant	-	NC_000011.10:g.44265173G>A	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gly310Ser	rs780076792	missense variant	-	NC_000011.10:g.44265162C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gly310Arg	rs780076792	missense variant	-	NC_000011.10:g.44265162C>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asn312Ser	rs1218321895	missense variant	-	NC_000011.10:g.44265155T>C	gnomAD
ALX4	Q9H161	p.Ala314Ser	rs888252724	missense variant	-	NC_000011.10:g.44265150C>A	TOPMed,gnomAD
ALX4	Q9H161	p.Ala314Pro	rs888252724	missense variant	-	NC_000011.10:g.44265150C>G	TOPMed,gnomAD
ALX4	Q9H161	p.Ala315Thr	rs1028561582	missense variant	-	NC_000011.10:g.44265147C>T	TOPMed,gnomAD
ALX4	Q9H161	p.Ala315Pro	rs1028561582	missense variant	-	NC_000011.10:g.44265147C>G	TOPMed,gnomAD
ALX4	Q9H161	p.Ser316Leu	rs752640074	missense variant	-	NC_000011.10:g.44265143G>A	ExAC,gnomAD
ALX4	Q9H161	p.Pro317Ser	rs767511619	missense variant	-	NC_000011.10:g.44265141G>A	ExAC,gnomAD
ALX4	Q9H161	p.Ala320Ser	rs971229762	missense variant	-	NC_000011.10:g.44265132C>A	TOPMed
ALX4	Q9H161	p.Ala320Gly	rs754671277	missense variant	-	NC_000011.10:g.44265131G>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Val322Met	rs762716140	missense variant	-	NC_000011.10:g.44265126C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Val322Leu	rs762716140	missense variant	-	NC_000011.10:g.44265126C>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asp326Asn	rs186244229	missense variant	-	NC_000011.10:g.44265114C>T	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asp326Asn	RCV000415474	missense variant	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44265114C>T	ClinVar
ALX4	Q9H161	p.Asp326Tyr	rs186244229	missense variant	-	NC_000011.10:g.44265114C>A	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asp326Ter	RCV000144038	frameshift	Parietal foramina 2 (PFM2)	NC_000011.10:g.44265105_44265114delinsAGTTGCCATCTCTGTTGAGATCTTAG	ClinVar
ALX4	Q9H161	p.Asp326Asn	RCV000513863	missense variant	-	NC_000011.10:g.44265114C>T	ClinVar
ALX4	Q9H161	p.Pro327Leu	rs372163762	missense variant	-	NC_000011.10:g.44265110G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro327Gln	rs372163762	missense variant	-	NC_000011.10:g.44265110G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Val328Met	rs1458389067	missense variant	-	NC_000011.10:g.44265108C>T	gnomAD
ALX4	Q9H161	p.Pro329Thr	rs1207788593	missense variant	-	NC_000011.10:g.44265105G>T	gnomAD
ALX4	Q9H161	p.Cys331Tyr	rs980674490	missense variant	-	NC_000011.10:g.44265098C>T	TOPMed,gnomAD
ALX4	Q9H161	p.Met332Lys	rs1442092132	missense variant	-	NC_000011.10:g.44265095A>T	gnomAD
ALX4	Q9H161	p.Ser333Phe	rs1478735796	missense variant	-	NC_000011.10:g.44265092G>A	TOPMed
ALX4	Q9H161	p.Pro334Leu	rs760189256	missense variant	-	NC_000011.10:g.44265089G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala336Val	rs1236496444	missense variant	-	NC_000011.10:g.44265083G>A	gnomAD
ALX4	Q9H161	p.His337Gln	rs747334899	missense variant	-	NC_000011.10:g.44265079G>T	ExAC,gnomAD
ALX4	Q9H161	p.Pro338Thr	rs144198846	missense variant	-	NC_000011.10:g.44265078G>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro338Arg	rs772158840	missense variant	-	NC_000011.10:g.44265077G>C	ExAC,gnomAD
ALX4	Q9H161	p.Pro339Ala	rs757361317	missense variant	-	NC_000011.10:g.44265075G>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro339Thr	rs757361317	missense variant	-	NC_000011.10:g.44265075G>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro339Ser	rs757361317	missense variant	-	NC_000011.10:g.44265075G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala343Thr	rs1464829765	missense variant	-	NC_000011.10:g.44265063C>T	TOPMed,gnomAD
ALX4	Q9H161	p.Ser344Ile	rs1177406080	missense variant	-	NC_000011.10:g.44265059C>A	gnomAD
ALX4	Q9H161	p.Ser345Asn	rs749390789	missense variant	-	NC_000011.10:g.44265056C>T	ExAC,gnomAD
ALX4	Q9H161	p.Ser345Arg	rs140652481	missense variant	-	NC_000011.10:g.44265055G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Val346Ile	rs751290539	missense variant	-	NC_000011.10:g.44265054C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Asp348Val	rs1235851082	missense variant	-	NC_000011.10:g.44265047T>A	TOPMed
ALX4	Q9H161	p.Asp348Asn	rs369033845	missense variant	-	NC_000011.10:g.44265048C>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ser351Ile	rs750030599	missense variant	-	NC_000011.10:g.44265038C>A	ExAC,gnomAD
ALX4	Q9H161	p.Val352Ala	rs1212846127	missense variant	-	NC_000011.10:g.44265035A>G	gnomAD
ALX4	Q9H161	p.Ser353Phe	rs761250353	missense variant	-	NC_000011.10:g.44265032G>A	ExAC,TOPMed
ALX4	Q9H161	p.Ser353Thr	rs1284621297	missense variant	-	NC_000011.10:g.44265033A>T	gnomAD
ALX4	Q9H161	p.Gly354Arg	rs1240211564	missense variant	-	NC_000011.10:g.44265030C>T	gnomAD
ALX4	Q9H161	p.Ala355Val	rs1395152265	missense variant	-	NC_000011.10:g.44265026G>A	TOPMed,gnomAD
ALX4	Q9H161	p.Ala355Asp	rs1395152265	missense variant	-	NC_000011.10:g.44265026G>T	TOPMed,gnomAD
ALX4	Q9H161	p.Ala355Thr	rs1310129725	missense variant	-	NC_000011.10:g.44265027C>T	gnomAD
ALX4	Q9H161	p.Gly356Ser	rs952423649	missense variant	-	NC_000011.10:g.44265024C>T	TOPMed
ALX4	Q9H161	p.Ser357Ile	rs1312253070	missense variant	-	NC_000011.10:g.44265020C>A	gnomAD
ALX4	Q9H161	p.Ser357Gly	rs764490498	missense variant	-	NC_000011.10:g.44265021T>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Val359Met	rs775689545	missense variant	-	NC_000011.10:g.44265015C>T	ExAC,gnomAD
ALX4	Q9H161	p.Gln361Arg	rs772445432	missense variant	-	NC_000011.10:g.44265008T>C	ExAC,gnomAD
ALX4	Q9H161	p.Gln361Leu	rs772445432	missense variant	-	NC_000011.10:g.44265008T>A	ExAC,gnomAD
ALX4	Q9H161	p.Thr362Met	rs61737293	missense variant	-	NC_000011.10:g.44265005G>A	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Thr362Ala	rs774659166	missense variant	-	NC_000011.10:g.44265006T>C	ExAC,gnomAD
ALX4	Q9H161	p.His363Gln	rs943508604	missense variant	-	NC_000011.10:g.44265001G>T	TOPMed
ALX4	Q9H161	p.Met364Val	rs768446841	missense variant	-	NC_000011.10:g.44265000T>C	ExAC,gnomAD
ALX4	Q9H161	p.Met364Arg	rs1309943017	missense variant	-	NC_000011.10:g.44264999A>C	gnomAD
ALX4	Q9H161	p.Gly365Asp	rs1256541673	missense variant	-	NC_000011.10:g.44264996C>T	gnomAD
ALX4	Q9H161	p.Ser366Cys	rs779876897	missense variant	-	NC_000011.10:g.44264994T>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ser366Thr	rs1262348859	missense variant	-	NC_000011.10:g.44264993C>G	gnomAD
ALX4	Q9H161	p.Ser366Gly	rs779876897	missense variant	-	NC_000011.10:g.44264994T>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gly369Glu	rs750221052	missense variant	-	NC_000011.10:g.44264984C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala370Thr	rs1263182037	missense variant	-	NC_000011.10:g.44264982C>T	gnomAD
ALX4	Q9H161	p.Ala371Asp	rs778529834	missense variant	-	NC_000011.10:g.44264978G>T	ExAC,gnomAD
ALX4	Q9H161	p.Ser372Cys	rs985033532	missense variant	-	NC_000011.10:g.44264976T>A	TOPMed
ALX4	Q9H161	p.Leu373Phe	rs148027225	missense variant	-	NC_000011.10:g.44264973G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ser374Gly	rs753270187	missense variant	-	NC_000011.10:g.44264970T>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Leu377Phe	rs763704637	missense variant	-	NC_000011.10:g.44264961G>A	ExAC,gnomAD
ALX4	Q9H161	p.Asn378Ser	rs144742417	missense variant	-	NC_000011.10:g.44264957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Glu381Lys	rs768153687	missense variant	-	NC_000011.10:g.44264949C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Glu381Gly	rs759914813	missense variant	-	NC_000011.10:g.44264948T>C	ExAC,gnomAD
ALX4	Q9H161	p.Glu381Gln	rs768153687	missense variant	-	NC_000011.10:g.44264949C>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gly384Arg	rs763307132	missense variant	-	NC_000011.10:g.44264940C>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Gly384Ser	rs763307132	missense variant	-	NC_000011.10:g.44264940C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Glu385Lys	rs748187496	missense variant	-	NC_000011.10:g.44264937C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Glu385Gln	rs748187496	missense variant	-	NC_000011.10:g.44264937C>G	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Pro386Leu	rs904598017	missense variant	-	NC_000011.10:g.44264933G>A	gnomAD
ALX4	Q9H161	p.Pro386Ala	rs779972509	missense variant	-	NC_000011.10:g.44264934G>C	ExAC,gnomAD
ALX4	Q9H161	p.Arg388Cys	rs778724337	missense variant	-	NC_000011.10:g.44264928G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg388His	rs756876780	missense variant	-	NC_000011.10:g.44264927C>T	ExAC,gnomAD
ALX4	Q9H161	p.Arg388His	RCV000306334	missense variant	Enlarged parietal foramina	NC_000011.10:g.44264927C>T	ClinVar
ALX4	Q9H161	p.Thr390Asn	rs1274633399	missense variant	-	NC_000011.10:g.44264921G>T	gnomAD
ALX4	Q9H161	p.Thr390Ile	rs1274633399	missense variant	-	NC_000011.10:g.44264921G>A	gnomAD
ALX4	Q9H161	p.Ile393Asn	rs777315924	missense variant	-	NC_000011.10:g.44264912A>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ile393Leu	rs1316438209	missense variant	-	NC_000011.10:g.44264913T>G	TOPMed,gnomAD
ALX4	Q9H161	p.Ile393Val	rs1316438209	missense variant	-	NC_000011.10:g.44264913T>C	TOPMed,gnomAD
ALX4	Q9H161	p.Ala394Val	rs774043649	missense variant	-	NC_000011.10:g.44264909G>A	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala394Thr	rs369740288	missense variant	-	NC_000011.10:g.44264910C>T	ESP,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala395Thr	rs1439142170	missense variant	-	NC_000011.10:g.44264907C>T	TOPMed
ALX4	Q9H161	p.Arg397His	rs763248407	missense variant	-	NC_000011.10:g.44264900C>T	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Arg397Cys	rs766809146	missense variant	-	NC_000011.10:g.44264901G>A	ExAC,gnomAD
ALX4	Q9H161	p.Met398Ile	rs1476323980	missense variant	-	NC_000011.10:g.44264896C>T	gnomAD
ALX4	Q9H161	p.Met398Val	rs1399189995	missense variant	-	NC_000011.10:g.44264898T>C	TOPMed,gnomAD
ALX4	Q9H161	p.Met398Arg	rs773423723	missense variant	-	NC_000011.10:g.44264897A>C	ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Met398Val	RCV000714827	missense variant	Frontonasal dysplasia 2 (FND2)	NC_000011.10:g.44264898T>C	ClinVar
ALX4	Q9H161	p.Ala405Val	rs200122905	missense variant	-	NC_000011.10:g.44264876G>A	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala405Gly	rs200122905	missense variant	-	NC_000011.10:g.44264876G>C	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Ala405Glu	rs200122905	missense variant	-	NC_000011.10:g.44264876G>T	1000Genomes,ExAC,TOPMed,gnomAD
ALX4	Q9H161	p.Trp409Ter	rs774306730	stop gained	-	NC_000011.10:g.44264863C>T	ExAC,gnomAD
ALX4	Q9H161	p.Trp409Arg	rs1239808717	missense variant	-	NC_000011.10:g.44264865A>G	TOPMed
ALX4	Q9H161	p.Thr411Ile	rs1457062170	missense variant	-	NC_000011.10:g.44264858G>A	gnomAD
PORCN	Q9H237	p.Ser5Arg	NCI-TCGA novel	missense variant	-	chrX:g.48509835C>A	NCI-TCGA
PORCN	Q9H237	p.Arg6His	rs1409621929	missense variant	-	NC_000023.11:g.48509837G>A	TOPMed
PORCN	Q9H237	p.Gln7Arg	COSM1122060	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48509840A>G	NCI-TCGA Cosmic
PORCN	Q9H237	p.Gly16Ser	rs1158362920	missense variant	-	NC_000023.11:g.48509866G>A	TOPMed
PORCN	Q9H237	p.Cys17Arg	rs1556973506	missense variant	-	NC_000023.11:g.48509869T>C	-
PORCN	Q9H237	p.Cys17Arg	RCV000624598	missense variant	Inborn genetic diseases	NC_000023.11:g.48509869T>C	ClinVar
PORCN	Q9H237	p.Leu18Ile	NCI-TCGA novel	missense variant	-	chrX:g.48509872C>A	NCI-TCGA
PORCN	Q9H237	p.Ala22Val	NCI-TCGA novel	missense variant	-	chrX:g.48509885C>T	NCI-TCGA
PORCN	Q9H237	p.Gly25Val	rs782609946	missense variant	-	NC_000023.11:g.48509894G>T	ExAC,gnomAD
PORCN	Q9H237	p.Gly25Ser	rs267606466	missense variant	-	chrX:g.48509893G>A	NCI-TCGA
PORCN	Q9H237	p.Leu32Phe	COSM4109749	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48509914C>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.Ala34Pro	rs1556973524	missense variant	-	NC_000023.11:g.48509920G>C	gnomAD
PORCN	Q9H237	p.Leu37Ile	COSM1122061	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48509929C>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Ala38Thr	rs782505896	missense variant	-	chrX:g.48509932G>A	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Ala38Thr	rs782505896	missense variant	-	NC_000023.11:g.48509932G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Arg40Cys	rs1556973527	missense variant	-	NC_000023.11:g.48509938C>T	gnomAD
PORCN	Q9H237	p.Arg40His	rs966935905	missense variant	-	NC_000023.11:g.48509939G>A	TOPMed
PORCN	Q9H237	p.Gly46Arg	rs782324176	missense variant	-	NC_000023.11:g.48509956G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Gly46Glu	rs1556973824	missense variant	-	NC_000023.11:g.48511295G>A	gnomAD
PORCN	Q9H237	p.Leu47Trp	COSM76015	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48511298T>G	NCI-TCGA Cosmic
PORCN	Q9H237	p.Ser55Asn	NCI-TCGA novel	missense variant	-	chrX:g.48511322G>A	NCI-TCGA
PORCN	Q9H237	p.Val57Met	rs781906860	missense variant	-	chrX:g.48511327G>A	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Val57Met	rs781906860	missense variant	-	NC_000023.11:g.48511327G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Val57Glu	COSM757153	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48511328T>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Gly60Arg	rs267606973	missense variant	Focal dermal hypoplasia (fdh)	NC_000023.11:g.48511336G>A	-
PORCN	Q9H237	p.Gly60Arg	rs267606973	missense variant	Focal dermal hypoplasia (FODH)	NC_000023.11:g.48511336G>A	UniProt,dbSNP
PORCN	Q9H237	p.Gly60Arg	VAR_035089	missense variant	Focal dermal hypoplasia (FODH)	NC_000023.11:g.48511336G>A	UniProt
PORCN	Q9H237	p.Gly60Arg	RCV000011447	missense variant	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48511336G>A	ClinVar
PORCN	Q9H237	p.Phe61Leu	COSM1122063	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48511341C>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Phe61Val	rs782597350	missense variant	-	NC_000023.11:g.48511339T>G	ExAC,gnomAD
PORCN	Q9H237	p.Ser63Gly	NCI-TCGA novel	missense variant	-	chrX:g.48511345A>G	NCI-TCGA
PORCN	Q9H237	p.Tyr65Asn	rs781793782	missense variant	-	NC_000023.11:g.48511351T>A	ExAC,gnomAD
PORCN	Q9H237	p.Phe67Leu	COSM1122064	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48511359C>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Leu70Arg	rs782477494	missense variant	-	NC_000023.11:g.48511367T>G	ExAC,gnomAD
PORCN	Q9H237	p.Trp74Ter	rs137852219	stop gained	Focal dermal hypoplasia (fdh)	NC_000023.11:g.48511380G>A	-
PORCN	Q9H237	p.Trp74Leu	NCI-TCGA novel	missense variant	-	chrX:g.48511379G>T	NCI-TCGA
PORCN	Q9H237	p.Trp74Ter	RCV000011449	nonsense	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48511380G>A	ClinVar
PORCN	Q9H237	p.Val76Met	rs1556973846	missense variant	-	NC_000023.11:g.48511384G>A	gnomAD
PORCN	Q9H237	p.Leu78Ile	NCI-TCGA novel	missense variant	-	chrX:g.48511390C>A	NCI-TCGA
PORCN	Q9H237	p.Leu84Ter	RCV000082827	frameshift	-	NC_000023.11:g.48511408del	ClinVar
PORCN	Q9H237	p.Val85Leu	rs781965191	missense variant	-	NC_000023.11:g.48511411G>C	ExAC,gnomAD
PORCN	Q9H237	p.Val85Met	rs781965191	missense variant	-	NC_000023.11:g.48511411G>A	ExAC,gnomAD
PORCN	Q9H237	p.Leu86Met	NCI-TCGA novel	missense variant	-	chrX:g.48511414C>A	NCI-TCGA
PORCN	Q9H237	p.Arg90Gln	rs782086023	missense variant	-	chrX:g.48511427G>A	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Arg90Ter	RCV000491111	nonsense	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48511426C>T	ClinVar
PORCN	Q9H237	p.Arg90Ter	rs1114167283	stop gained	-	NC_000023.11:g.48511426C>T	-
PORCN	Q9H237	p.Arg90Gln	rs782086023	missense variant	-	NC_000023.11:g.48511427G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Ser92Phe	rs1556973869	missense variant	-	NC_000023.11:g.48511433C>T	gnomAD
PORCN	Q9H237	p.His94Gln	rs1556973874	missense variant	-	NC_000023.11:g.48511440T>A	gnomAD
PORCN	Q9H237	p.His94Arg	rs1279800512	missense variant	-	NC_000023.11:g.48511439A>G	TOPMed
PORCN	Q9H237	p.Arg95Gln	rs781840158	missense variant	-	NC_000023.11:g.48511442G>A	1000Genomes,ExAC,gnomAD
PORCN	Q9H237	p.Val97Ile	rs782167731	missense variant	-	chrX:g.48511447G>A	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Val97Ile	rs782167731	missense variant	-	NC_000023.11:g.48511447G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Ser100Phe	rs1556973881	missense variant	-	NC_000023.11:g.48511457C>T	gnomAD
PORCN	Q9H237	p.Val101Ala	rs1375643182	missense variant	-	NC_000023.11:g.48511460T>C	TOPMed
PORCN	Q9H237	p.Val101Ile	rs182435804	missense variant	-	NC_000023.11:g.48511459G>A	1000Genomes,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Thr102Ala	rs781809933	missense variant	-	NC_000023.11:g.48511462A>G	ExAC,gnomAD
PORCN	Q9H237	p.Leu107Ile	NCI-TCGA novel	missense variant	-	chrX:g.48511477C>A	NCI-TCGA
PORCN	Q9H237	p.Leu108Ile	rs1441752339	missense variant	-	NC_000023.11:g.48511480C>A	TOPMed,gnomAD
PORCN	Q9H237	p.Met109Val	rs781857161	missense variant	-	NC_000023.11:g.48511483A>G	1000Genomes,ExAC,gnomAD
PORCN	Q9H237	p.Met109Ile	rs781869078	missense variant	-	NC_000023.11:g.48511485G>C	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Met109Ile	rs781869078	missense variant	-	NC_000023.11:g.48511485G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Glu111Asp	NCI-TCGA novel	missense variant	-	chrX:g.48511895G>T	NCI-TCGA
PORCN	Q9H237	p.Met112Ile	rs782565137	missense variant	-	NC_000023.11:g.48511898G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Val118Met	rs782485813	missense variant	-	NC_000023.11:g.48511914G>A	ExAC,gnomAD
PORCN	Q9H237	p.Arg124Ter	RCV000011448	nonsense	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48511932C>T	ClinVar
PORCN	Q9H237	p.Arg124Ter	rs137852218	stop gained	Focal dermal hypoplasia (fdh)	NC_000023.11:g.48511932C>T	-
PORCN	Q9H237	p.Arg124Ter	rs137852218	stop gained	-	chrX:g.48511932C>T	NCI-TCGA
PORCN	Q9H237	p.Arg124Ter	RCV000599522	nonsense	-	NC_000023.11:g.48511932C>T	ClinVar
PORCN	Q9H237	p.Gly125Glu	NCI-TCGA novel	missense variant	-	chrX:g.48512326G>A	NCI-TCGA
PORCN	Q9H237	p.Val130Leu	rs782484003	missense variant	-	NC_000023.11:g.48512340G>T	ExAC,gnomAD
PORCN	Q9H237	p.Val130Met	NCI-TCGA novel	missense variant	-	chrX:g.48512340G>A	NCI-TCGA
PORCN	Q9H237	p.Met132Arg	RCV000782087	missense variant	-	NC_000023.11:g.48512347T>G	ClinVar
PORCN	Q9H237	p.Lys133Met	NCI-TCGA novel	missense variant	-	chrX:g.48512350A>T	NCI-TCGA
PORCN	Q9H237	p.Val135Ala	rs369572234	missense variant	-	NC_000023.11:g.48512356T>C	ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Ser136Tyr	NCI-TCGA novel	missense variant	-	chrX:g.48512359C>A	NCI-TCGA
PORCN	Q9H237	p.Ser136Phe	VAR_058899	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Leu137Met	COSM1122067	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512361C>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Asp140Asn	rs1250156905	missense variant	-	NC_000023.11:g.48512370G>A	TOPMed
PORCN	Q9H237	p.Arg143Trp	rs781876014	missense variant	-	NC_000023.11:g.48512379C>T	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Glu145Lys	rs1556974116	missense variant	-	NC_000023.11:g.48512385G>A	gnomAD
PORCN	Q9H237	p.Val146Ala	rs782698533	missense variant	-	NC_000023.11:g.48512389T>C	ExAC,gnomAD
PORCN	Q9H237	p.Gly147Asp	rs1202991912	missense variant	-	NC_000023.11:g.48512392G>A	TOPMed
PORCN	Q9H237	p.Gly147Asp	NCI-TCGA novel	missense variant	-	chrX:g.48512392G>A	NCI-TCGA
PORCN	Q9H237	p.Thr148Met	rs782273836	missense variant	-	chrX:g.48512395C>T	NCI-TCGA
PORCN	Q9H237	p.Thr148Ser	rs1350683332	missense variant	-	NC_000023.11:g.48512394A>T	TOPMed
PORCN	Q9H237	p.Thr148Met	rs782273836	missense variant	-	NC_000023.11:g.48512395C>T	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Thr148Arg	rs782273836	missense variant	-	NC_000023.11:g.48512395C>G	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Val149Met	rs782001992	missense variant	-	NC_000023.11:g.48512397G>A	1000Genomes,ExAC,gnomAD
PORCN	Q9H237	p.Ser151Leu	rs145839490	missense variant	-	NC_000023.11:g.48512404C>T	ESP,TOPMed
PORCN	Q9H237	p.Ser151Leu	RCV000601293	missense variant	-	NC_000023.11:g.48512404C>T	ClinVar
PORCN	Q9H237	p.Val153Met	rs781980129	missense variant	-	NC_000023.11:g.48512409G>A	ExAC,gnomAD
PORCN	Q9H237	p.Glu154Gln	rs1469746981	missense variant	-	NC_000023.11:g.48512412G>C	TOPMed,gnomAD
PORCN	Q9H237	p.Phe155Leu	NCI-TCGA novel	missense variant	-	chrX:g.48512417C>A	NCI-TCGA
PORCN	Q9H237	p.Gly157Asp	NCI-TCGA novel	missense variant	-	chrX:g.48512422G>A	NCI-TCGA
PORCN	Q9H237	p.Tyr160Asn	rs782294930	missense variant	-	NC_000023.11:g.48512430T>A	ExAC,gnomAD
PORCN	Q9H237	p.Tyr160Cys	rs782400994	missense variant	-	NC_000023.11:g.48512431A>G	ExAC,gnomAD
PORCN	Q9H237	p.Tyr160Ter	NCI-TCGA novel	stop gained	-	chrX:g.48512432C>A	NCI-TCGA
PORCN	Q9H237	p.Val162Met	rs1386381284	missense variant	-	NC_000023.11:g.48512436G>A	TOPMed,gnomAD
PORCN	Q9H237	p.Ile165Val	rs781926599	missense variant	-	chrX:g.48512445A>G	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Ile165Val	rs781926599	missense variant	-	NC_000023.11:g.48512445A>G	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Val166Ile	rs986541030	missense variant	-	NC_000023.11:g.48512448G>A	TOPMed,gnomAD
PORCN	Q9H237	p.Val166Ile	COSM1468210	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512448G>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Gly168Arg	VAR_058900	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Trp170Ter	NCI-TCGA novel	stop gained	-	chrX:g.48512462G>A	NCI-TCGA
PORCN	Q9H237	p.Gln178Arg	rs1556974164	missense variant	-	NC_000023.11:g.48512485A>G	gnomAD
PORCN	Q9H237	p.Arg183His	rs370199558	missense variant	-	NC_000023.11:g.48512500G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Arg183Cys	rs868950224	missense variant	-	NC_000023.11:g.48512499C>T	gnomAD
PORCN	Q9H237	p.Pro184Thr	NCI-TCGA novel	missense variant	-	chrX:g.48512502C>A	NCI-TCGA
PORCN	Q9H237	p.Arg188Trp	rs782806598	missense variant	-	NC_000023.11:g.48512595C>T	1000Genomes,ExAC,gnomAD
PORCN	Q9H237	p.Arg188Gln	rs782707873	missense variant	-	NC_000023.11:g.48512596G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Trp189Arg	rs1057519006	missense variant	-	NC_000023.11:g.48512598T>C	-
PORCN	Q9H237	p.Trp189Arg	RCV000414798	missense variant	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48512598T>C	ClinVar
PORCN	Q9H237	p.Arg195Gln	rs1349362893	missense variant	-	NC_000023.11:g.48512617G>A	TOPMed,gnomAD
PORCN	Q9H237	p.Arg195Trp	rs1556974201	missense variant	-	NC_000023.11:g.48512616C>T	gnomAD
PORCN	Q9H237	p.Ala198HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.48512624G>-	NCI-TCGA
PORCN	Q9H237	p.Ala200Thr	rs1556974206	missense variant	-	NC_000023.11:g.48512631G>A	gnomAD
PORCN	Q9H237	p.Leu201Pro	rs782482532	missense variant	-	NC_000023.11:g.48512635T>C	ExAC,gnomAD
PORCN	Q9H237	p.Cys203Ser	NCI-TCGA novel	missense variant	-	chrX:g.48512641G>C	NCI-TCGA
PORCN	Q9H237	p.Val205Leu	rs1247727749	missense variant	-	NC_000023.11:g.48512646G>T	TOPMed
PORCN	Q9H237	p.Ser207Phe	COSM3561939	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512653C>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.Gly211Asp	COSM4109751	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512665G>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Pro212Ser	NCI-TCGA novel	missense variant	-	chrX:g.48512667C>T	NCI-TCGA
PORCN	Q9H237	p.Pro216Leu	rs1556974223	missense variant	-	NC_000023.11:g.48512680C>T	TOPMed,gnomAD
PORCN	Q9H237	p.Pro216Arg	rs1556974223	missense variant	-	NC_000023.11:g.48512680C>G	TOPMed,gnomAD
PORCN	Q9H237	p.Pro216Thr	NCI-TCGA novel	missense variant	-	chrX:g.48512679C>A	NCI-TCGA
PORCN	Q9H237	p.Pro220Leu	rs930225411	missense variant	-	NC_000023.11:g.48512692C>T	TOPMed,gnomAD
PORCN	Q9H237	p.Leu221SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.48512690C>-	NCI-TCGA
PORCN	Q9H237	p.Gly223Ser	rs1398971930	missense variant	-	NC_000023.11:g.48512700G>A	TOPMed,gnomAD
PORCN	Q9H237	p.Asp224His	COSM462219	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48512703G>C	NCI-TCGA Cosmic
PORCN	Q9H237	p.Arg225Cys	rs143554153	missense variant	-	NC_000023.11:g.48512706C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Arg225His	rs370900825	missense variant	-	NC_000023.11:g.48512707G>A	ExAC,gnomAD
PORCN	Q9H237	p.Arg225Cys	rs143554153	missense variant	-	chrX:g.48512706C>T	NCI-TCGA
PORCN	Q9H237	p.Arg228Cys	rs1556974235	missense variant	-	NC_000023.11:g.48512715C>T	gnomAD
PORCN	Q9H237	p.Arg228His	rs373691543	missense variant	-	NC_000023.11:g.48512716G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Arg228His	rs373691543	missense variant	-	chrX:g.48512716G>A	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Arg228Cys	VAR_058901	Missense	-	-	UniProt
PORCN	Q9H237	p.Arg232His	rs148060082	missense variant	-	NC_000023.11:g.48512843G>A	ESP,gnomAD
PORCN	Q9H237	p.Arg232His	rs148060082	missense variant	-	chrX:g.48512843G>A	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Gly236Val	rs1556974603	missense variant	-	NC_000023.11:g.48514129G>T	gnomAD
PORCN	Q9H237	p.Val239Ile	rs1556974610	missense variant	-	NC_000023.11:g.48514137G>A	gnomAD
PORCN	Q9H237	p.Glu246Gln	rs782478160	missense variant	-	NC_000023.11:g.48514256G>C	ExAC,gnomAD
PORCN	Q9H237	p.Glu246Lys	COSM1122070	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514256G>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Ala248Ser	COSM6187349	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514262G>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.Ser250Cys	rs782285872	missense variant	-	NC_000023.11:g.48514269C>G	ExAC,gnomAD
PORCN	Q9H237	p.Ser250Thr	NCI-TCGA novel	missense variant	-	chrX:g.48514268T>A	NCI-TCGA
PORCN	Q9H237	p.Ser250Phe	COSM3561940	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514269C>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.His252Tyr	VAR_065189	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Phe253Leu	rs1453629697	missense variant	-	NC_000023.11:g.48514279C>G	TOPMed
PORCN	Q9H237	p.Val258Met	rs1556974674	missense variant	-	NC_000023.11:g.48514292G>A	gnomAD
PORCN	Q9H237	p.Val258Glu	VAR_058902	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Leu261Val	rs370092224	missense variant	-	NC_000023.11:g.48514301C>G	ESP,ExAC,gnomAD
PORCN	Q9H237	p.Leu261Phe	COSM3561941	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514301C>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.Glu263Lys	rs1556974682	missense variant	-	NC_000023.11:g.48514307G>A	-
PORCN	Q9H237	p.Glu263Lys	RCV000523172	missense variant	-	NC_000023.11:g.48514307G>A	ClinVar
PORCN	Q9H237	p.Thr265Met	rs200707168	missense variant	-	NC_000023.11:g.48514314C>T	ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Thr265Met	rs200707168	missense variant	-	chrX:g.48514314C>T	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Ala266Val	rs782131250	missense variant	-	NC_000023.11:g.48514317C>T	ExAC,gnomAD
PORCN	Q9H237	p.Thr267Met	rs782751723	missense variant	-	NC_000023.11:g.48514320C>T	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Ala269Thr	rs369672830	missense variant	-	NC_000023.11:g.48514325G>A	ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Ala269Val	COSM4109752	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514326C>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.Ala271Val	rs782730333	missense variant	-	NC_000023.11:g.48514332C>T	ExAC,gnomAD
PORCN	Q9H237	p.Gly272Cys	rs1556974716	missense variant	-	NC_000023.11:g.48514334G>T	gnomAD
PORCN	Q9H237	p.Phe273Leu	rs1284094279	missense variant	-	NC_000023.11:g.48514337T>C	TOPMed,gnomAD
PORCN	Q9H237	p.Thr274Ile	COSM3561943	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514341C>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.Glu275Lys	rs782735906	missense variant	-	NC_000023.11:g.48514343G>A	ExAC,gnomAD
PORCN	Q9H237	p.Glu281AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.48514362A>-	NCI-TCGA
PORCN	Q9H237	p.Asp283Asn	rs782389526	missense variant	-	NC_000023.11:g.48514526G>A	ExAC,TOPMed
PORCN	Q9H237	p.Asp283His	rs782389526	missense variant	-	NC_000023.11:g.48514526G>C	ExAC,TOPMed
PORCN	Q9H237	p.Asp283Gly	NCI-TCGA novel	missense variant	-	chrX:g.48514527A>G	NCI-TCGA
PORCN	Q9H237	p.Leu284Arg	NCI-TCGA novel	missense variant	-	chrX:g.48514530T>G	NCI-TCGA
PORCN	Q9H237	p.Thr285Ter	RCV000664205	frameshift	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48514532_48514533delinsCCCCCAG	ClinVar
PORCN	Q9H237	p.Thr285Met	rs369163583	missense variant	-	NC_000023.11:g.48514533C>T	ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Asn291Thr	rs372673870	missense variant	-	NC_000023.11:g.48514551A>C	ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Asn291His	NCI-TCGA novel	missense variant	-	chrX:g.48514550A>C	NCI-TCGA
PORCN	Q9H237	p.Val292Ala	NCI-TCGA novel	missense variant	-	chrX:g.48514554T>C	NCI-TCGA
PORCN	Q9H237	p.Ser297Ala	NCI-TCGA novel	missense variant	-	chrX:g.48514568T>G	NCI-TCGA
PORCN	Q9H237	p.Ser297Leu	VAR_065190	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Met298Val	rs782354406	missense variant	-	NC_000023.11:g.48514571A>G	ExAC,gnomAD
PORCN	Q9H237	p.Val299Ala	rs1158822302	missense variant	-	NC_000023.11:g.48514575T>C	TOPMed,gnomAD
PORCN	Q9H237	p.Val302Phe	NCI-TCGA novel	missense variant	-	chrX:g.48514583G>T	NCI-TCGA
PORCN	Q9H237	p.Trp305Ter	COSM3561945	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.48514594G>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Asn306Lys	COSM3965292	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514597C>A	NCI-TCGA Cosmic
PORCN	Q9H237	p.Pro308Ser	rs1240399258	missense variant	-	NC_000023.11:g.48514601C>T	TOPMed,gnomAD
PORCN	Q9H237	p.Met309Val	rs781963757	missense variant	-	NC_000023.11:g.48514604A>G	ExAC,gnomAD
PORCN	Q9H237	p.Ser310Thr	rs969004771	missense variant	-	NC_000023.11:g.48514607T>A	TOPMed,gnomAD
PORCN	Q9H237	p.Trp312Arg	COSM1122072	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48514613T>C	NCI-TCGA Cosmic
PORCN	Q9H237	p.Tyr316Phe	rs782356180	missense variant	-	NC_000023.11:g.48515717A>T	1000Genomes,ExAC,gnomAD
PORCN	Q9H237	p.Val317Leu	rs1264797373	missense variant	-	NC_000023.11:g.48515719G>C	TOPMed
PORCN	Q9H237	p.Leu322Phe	rs782200118	missense variant	-	NC_000023.11:g.48515734C>T	ExAC,gnomAD
PORCN	Q9H237	p.Arg323Cys	rs782308739	missense variant	-	chrX:g.48515737C>T	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Arg323Leu	COSM6187348	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48515738G>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.Arg323His	rs373433770	missense variant	-	NC_000023.11:g.48515738G>A	ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Arg323Cys	rs782308739	missense variant	-	NC_000023.11:g.48515737C>T	ExAC,gnomAD
PORCN	Q9H237	p.Thr326Ile	rs1556975122	missense variant	-	NC_000023.11:g.48515747C>T	gnomAD
PORCN	Q9H237	p.Thr326Ser	rs782216315	missense variant	-	NC_000023.11:g.48515746A>T	ExAC,gnomAD
PORCN	Q9H237	p.Thr326Pro	rs782216315	missense variant	-	NC_000023.11:g.48515746A>C	ExAC,gnomAD
PORCN	Q9H237	p.Ser328Leu	NCI-TCGA novel	missense variant	-	chrX:g.48515753C>T	NCI-TCGA
PORCN	Q9H237	p.Ala329Gly	rs1282968648	missense variant	-	NC_000023.11:g.48515756C>G	TOPMed,gnomAD
PORCN	Q9H237	p.Leu331Arg	VAR_065191	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Ala335Val	rs200613551	missense variant	-	NC_000023.11:g.48515774C>T	1000Genomes,TOPMed,gnomAD
PORCN	Q9H237	p.Ala335Thr	NCI-TCGA novel	missense variant	-	chrX:g.48515773G>A	NCI-TCGA
PORCN	Q9H237	p.Ala336Gly	rs141810375	missense variant	-	NC_000023.11:g.48515777C>G	ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Ala338Thr	rs782558992	missense variant	-	chrX:g.48515782G>A	NCI-TCGA
PORCN	Q9H237	p.Ala338Gly	rs782172331	missense variant	-	NC_000023.11:g.48515783C>G	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Ala338Thr	rs782558992	missense variant	-	NC_000023.11:g.48515782G>A	TOPMed,gnomAD
PORCN	Q9H237	p.His341Leu	VAR_058903	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Ala349Thr	rs782109678	missense variant	-	NC_000023.11:g.48515911G>A	ExAC,gnomAD
PORCN	Q9H237	p.Thr358Ter	RCV000011446	frameshift	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48515925_48515937dup	ClinVar
PORCN	Q9H237	p.Val360Met	rs781844031	missense variant	-	NC_000023.11:g.48515944G>A	ExAC,gnomAD
PORCN	Q9H237	p.Glu361Val	VAR_065192	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Arg365Trp	rs398124616	missense variant	-	chrX:g.48516066C>T	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Arg365Trp	rs398124616	missense variant	-	NC_000023.11:g.48516066C>T	-
PORCN	Q9H237	p.Arg365Trp	RCV000082826	missense variant	-	NC_000023.11:g.48516066C>T	ClinVar
PORCN	Q9H237	p.Arg365Gly	VAR_035090	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Arg365Gln	VAR_058904	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Arg367His	rs781890070	missense variant	-	chrX:g.48516073G>A	NCI-TCGA
PORCN	Q9H237	p.Arg367Ser	rs1245335951	missense variant	-	NC_000023.11:g.48516072C>A	TOPMed,gnomAD
PORCN	Q9H237	p.Arg367His	rs781890070	missense variant	-	NC_000023.11:g.48516073G>A	ExAC,gnomAD
PORCN	Q9H237	p.Arg367Cys	rs1245335951	missense variant	-	NC_000023.11:g.48516072C>T	TOPMed,gnomAD
PORCN	Q9H237	p.Arg367Cys	NCI-TCGA novel	missense variant	-	chrX:g.48516072C>T	NCI-TCGA
PORCN	Q9H237	p.Arg370Trp	rs782434374	missense variant	-	NC_000023.11:g.48516081C>T	ExAC,gnomAD
PORCN	Q9H237	p.Arg370Gln	rs387906723	missense variant	-	chrX:g.48516082G>A	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Arg370Gln	rs387906723	missense variant	Focal dermal hypoplasia (fdh)	NC_000023.11:g.48516082G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Arg370Gln	RCV000022872	missense variant	Focal dermal hypoplasia (FDH)	NC_000023.11:g.48516082G>A	ClinVar
PORCN	Q9H237	p.Ala374Pro	VAR_066061	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Val376Ala	NCI-TCGA novel	missense variant	-	chrX:g.48516100T>C	NCI-TCGA
PORCN	Q9H237	p.Ser378Leu	rs1064795419	missense variant	-	NC_000023.11:g.48516106C>T	-
PORCN	Q9H237	p.Ser378Leu	RCV000486452	missense variant	-	NC_000023.11:g.48516106C>T	ClinVar
PORCN	Q9H237	p.Arg380Gln	rs782631909	missense variant	-	NC_000023.11:g.48516112G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Arg380Gln	rs782631909	missense variant	-	chrX:g.48516112G>A	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Arg380Trp	rs782208997	missense variant	-	chrX:g.48516111C>T	NCI-TCGA
PORCN	Q9H237	p.Arg380Trp	rs782208997	missense variant	-	NC_000023.11:g.48516111C>T	ExAC,gnomAD
PORCN	Q9H237	p.Cys385Tyr	VAR_065193	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Cys385Arg	VAR_058905	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Ser386Trp	rs900532510	missense variant	-	NC_000023.11:g.48516130C>G	TOPMed
PORCN	Q9H237	p.Ser386Leu	rs900532510	missense variant	-	NC_000023.11:g.48516130C>T	TOPMed
PORCN	Q9H237	p.Ser386Leu	NCI-TCGA novel	missense variant	-	chrX:g.48516130C>T	NCI-TCGA
PORCN	Q9H237	p.His389Arg	rs781938117	missense variant	-	NC_000023.11:g.48516139A>G	ExAC,gnomAD
PORCN	Q9H237	p.Arg390His	rs1556975323	missense variant	-	NC_000023.11:g.48516142G>A	gnomAD
PORCN	Q9H237	p.Arg390Cys	COSM462218	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48516141C>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.Leu391Phe	NCI-TCGA novel	missense variant	-	chrX:g.48516146G>C	NCI-TCGA
PORCN	Q9H237	p.Leu393Pro	rs1449007234	missense variant	-	NC_000023.11:g.48517187T>C	TOPMed,gnomAD
PORCN	Q9H237	p.Gly394Glu	rs1556975565	missense variant	-	NC_000023.11:g.48517190G>A	gnomAD
PORCN	Q9H237	p.Arg396Gln	rs199508142	missense variant	-	NC_000023.11:g.48517196G>A	1000Genomes,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Leu401Phe	rs1556975578	missense variant	-	NC_000023.11:g.48517210C>T	gnomAD
PORCN	Q9H237	p.Phe402Val	rs782685845	missense variant	-	NC_000023.11:g.48517213T>G	ExAC,gnomAD
PORCN	Q9H237	p.Gly403Arg	rs1466714216	missense variant	-	NC_000023.11:g.48517216G>A	TOPMed
PORCN	Q9H237	p.Ala404Val	rs1556975587	missense variant	-	NC_000023.11:g.48517220C>T	gnomAD
PORCN	Q9H237	p.Ala406Thr	rs781834255	missense variant	-	chrX:g.48517225G>A	NCI-TCGA,NCI-TCGA Cosmic
PORCN	Q9H237	p.Ala406Thr	rs781834255	missense variant	-	NC_000023.11:g.48517225G>A	ExAC,gnomAD
PORCN	Q9H237	p.Leu410Val	rs966088285	missense variant	-	NC_000023.11:g.48517237C>G	gnomAD
PORCN	Q9H237	p.Leu410Met	rs966088285	missense variant	-	NC_000023.11:g.48517237C>A	gnomAD
PORCN	Q9H237	p.Phe417Ser	rs1057517951	missense variant	-	NC_000023.11:g.48517259T>C	-
PORCN	Q9H237	p.Phe417Ser	RCV000414381	missense variant	-	NC_000023.11:g.48517259T>C	ClinVar
PORCN	Q9H237	p.Asp420His	rs932266351	missense variant	-	NC_000023.11:g.48517267G>C	gnomAD
PORCN	Q9H237	p.Asp420Asn	rs932266351	missense variant	-	NC_000023.11:g.48517267G>A	gnomAD
PORCN	Q9H237	p.Val421Met	rs984923291	missense variant	-	NC_000023.11:g.48517270G>A	TOPMed
PORCN	Q9H237	p.Asp422Gly	rs1380762250	missense variant	-	NC_000023.11:g.48517274A>G	TOPMed,gnomAD
PORCN	Q9H237	p.Thr424Asn	rs1180443918	missense variant	-	NC_000023.11:g.48517280C>A	TOPMed,gnomAD
PORCN	Q9H237	p.Thr425Ile	rs146322406	missense variant	-	NC_000023.11:g.48517283C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Glu427Gln	rs1556975628	missense variant	-	NC_000023.11:g.48517288G>C	gnomAD
PORCN	Q9H237	p.Glu427Ter	rs1556975628	stop gained	-	NC_000023.11:g.48517288G>T	gnomAD
PORCN	Q9H237	p.Tyr430Phe	rs1556976185	missense variant	-	NC_000023.11:g.48520379A>T	gnomAD
PORCN	Q9H237	p.Gly431Ser	rs782065862	missense variant	-	NC_000023.11:g.48520381G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Gly431Arg	RCV000490242	missense variant	-	NC_000023.11:g.48520381G>C	ClinVar
PORCN	Q9H237	p.Gly431Arg	rs782065862	missense variant	-	NC_000023.11:g.48520381G>C	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Met432Val	rs192546852	missense variant	-	NC_000023.11:g.48520384A>G	1000Genomes,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Met432Leu	rs192546852	missense variant	-	NC_000023.11:g.48520384A>C	1000Genomes,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Met432Leu	rs192546852	missense variant	-	NC_000023.11:g.48520384A>T	1000Genomes,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.His437Tyr	rs1318551935	missense variant	-	NC_000023.11:g.48520399C>T	TOPMed
PORCN	Q9H237	p.Lys438Arg	rs1456810344	missense variant	-	NC_000023.11:g.48520403A>G	TOPMed,gnomAD
PORCN	Q9H237	p.Trp439Arg	VAR_058906	Missense	Focal dermal hypoplasia (FODH) [MIM:305600]	-	UniProt
PORCN	Q9H237	p.Glu441Asp	rs1395434209	missense variant	-	NC_000023.11:g.48520413G>C	TOPMed,gnomAD
PORCN	Q9H237	p.Glu441Val	COSM457580	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48520412A>T	NCI-TCGA Cosmic
PORCN	Q9H237	p.Ser443Thr	rs375162701	missense variant	-	NC_000023.11:g.48520418G>C	ESP,TOPMed
PORCN	Q9H237	p.Ala445Thr	rs1422327946	missense variant	-	NC_000023.11:g.48520423G>A	TOPMed
PORCN	Q9H237	p.Ser446Gly	rs1412795119	missense variant	-	NC_000023.11:g.48520426A>G	TOPMed
PORCN	Q9H237	p.Trp448Cys	rs1186949321	missense variant	-	NC_000023.11:g.48520434G>C	TOPMed
PORCN	Q9H237	p.Phe451Ser	rs781842192	missense variant	-	NC_000023.11:g.48520442T>C	ExAC,gnomAD
PORCN	Q9H237	p.Ile455Val	rs369356344	missense variant	-	NC_000023.11:g.48520453A>G	ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Ile455Phe	rs369356344	missense variant	-	NC_000023.11:g.48520453A>T	ESP,ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Ile455Ser	COSM488401	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48520454T>G	NCI-TCGA Cosmic
PORCN	Q9H237	p.Arg458Cys	rs1556976227	missense variant	-	NC_000023.11:g.48520462C>T	gnomAD
PORCN	Q9H237	p.Arg458His	rs200659583	missense variant	-	NC_000023.11:g.48520463G>A	ExAC,TOPMed,gnomAD
PORCN	Q9H237	p.Arg458Cys	COSM1122075	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.48520462C>T	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Ala2Thr	rs1186574873	missense variant	-	NC_000005.10:g.79069786G>A	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala4Asp	rs13189440	missense variant	-	NC_000005.10:g.79069793C>A	gnomAD
BHMT2	Q9H2M3	p.Arg6Pro	rs1010004996	missense variant	-	NC_000005.10:g.79069799G>C	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Pro7Leu	rs750536578	missense variant	-	NC_000005.10:g.79069802C>T	ExAC
BHMT2	Q9H2M3	p.Gly8Val	rs1043158306	missense variant	-	NC_000005.10:g.79069805G>T	TOPMed
BHMT2	Q9H2M3	p.Ala9Ser	rs370147287	missense variant	-	NC_000005.10:g.79069807G>T	ESP,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala9Thr	rs370147287	missense variant	-	NC_000005.10:g.79069807G>A	ESP,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala9Asp	rs1169286120	missense variant	-	NC_000005.10:g.79069808C>A	gnomAD
BHMT2	Q9H2M3	p.Lys10Gln	rs1463759330	missense variant	-	NC_000005.10:g.79069810A>C	TOPMed
BHMT2	Q9H2M3	p.Lys11Glu	rs1401941957	missense variant	-	NC_000005.10:g.79069813A>G	TOPMed
BHMT2	Q9H2M3	p.Gly12Arg	rs758118459	missense variant	-	NC_000005.10:g.79077480G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ile13Met	rs145187884	missense variant	-	NC_000005.10:g.79077485T>G	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg16His	rs534723307	missense variant	-	NC_000005.10:g.79077493G>A	1000Genomes,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg16Cys	rs751383805	missense variant	-	NC_000005.10:g.79077492C>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ser19Asn	rs1471398559	missense variant	-	NC_000005.10:g.79077502G>A	gnomAD
BHMT2	Q9H2M3	p.Gly20Trp	rs1363554879	missense variant	-	NC_000005.10:g.79077504G>T	gnomAD
BHMT2	Q9H2M3	p.Val23Leu	rs745337209	missense variant	-	NC_000005.10:g.79077513G>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ile24Asn	rs1400202076	missense variant	-	NC_000005.10:g.79077517T>A	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ile24Thr	rs1400202076	missense variant	-	NC_000005.10:g.79077517T>C	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly25Ala	COSM421176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79077520G>C	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Gly25Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.79077519G>T	NCI-TCGA
BHMT2	Q9H2M3	p.Ser28Ile	rs755716390	missense variant	-	NC_000005.10:g.79077529G>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Phe29Ser	rs1357660595	missense variant	-	NC_000005.10:g.79077532T>C	gnomAD
BHMT2	Q9H2M3	p.Leu30Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79077534C>A	NCI-TCGA
BHMT2	Q9H2M3	p.Thr32Ile	rs368668984	missense variant	-	NC_000005.10:g.79077541C>T	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Thr32Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79077540A>C	NCI-TCGA
BHMT2	Q9H2M3	p.Glu34Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79077546G>A	NCI-TCGA
BHMT2	Q9H2M3	p.Lys35Glu	rs1037814193	missense variant	-	NC_000005.10:g.79077549A>G	TOPMed
BHMT2	Q9H2M3	p.Arg36Thr	rs1161141998	missense variant	-	NC_000005.10:g.79077553G>C	TOPMed
BHMT2	Q9H2M3	p.Tyr38Phe	rs1473554828	missense variant	-	NC_000005.10:g.79077559A>T	TOPMed
BHMT2	Q9H2M3	p.Val39Gly	rs1180801070	missense variant	-	NC_000005.10:g.79077562T>G	TOPMed
BHMT2	Q9H2M3	p.Ala41Ser	rs748545629	missense variant	-	NC_000005.10:g.79077567G>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Leu43Phe	rs370995614	missense variant	-	NC_000005.10:g.79077573C>T	ESP,TOPMed
BHMT2	Q9H2M3	p.Trp44Ter	rs374332843	stop gained	-	NC_000005.10:g.79077578G>A	ESP,ExAC,gnomAD
BHMT2	Q9H2M3	p.His52Tyr	rs1250287708	missense variant	-	NC_000005.10:g.79077600C>T	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asp54His	rs776589923	missense variant	-	NC_000005.10:g.79077606G>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asp54Glu	rs682985	missense variant	-	NC_000005.10:g.79077608C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asp54Asn	rs776589923	missense variant	-	NC_000005.10:g.79077606G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala55Thr	rs948613801	missense variant	-	NC_000005.10:g.79077609G>A	gnomAD
BHMT2	Q9H2M3	p.Arg57Cys	rs141648685	missense variant	-	NC_000005.10:g.79079371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg57His	rs776368961	missense variant	-	NC_000005.10:g.79079372G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gln58His	rs774337484	missense variant	-	NC_000005.10:g.79079376A>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Met61Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79079385G>A	NCI-TCGA
BHMT2	Q9H2M3	p.Phe63Val	rs767242813	missense variant	-	NC_000005.10:g.79079389T>G	ExAC,gnomAD
BHMT2	Q9H2M3	p.Arg65Gly	rs573988642	missense variant	-	NC_000005.10:g.79079395A>G	1000Genomes,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala66Thr	rs760335543	missense variant	-	NC_000005.10:g.79079398G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala66Ser	rs760335543	missense variant	-	NC_000005.10:g.79079398G>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala66Val	rs60158007	missense variant	-	NC_000005.10:g.79079399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly67Arg	rs1241061533	missense variant	-	NC_000005.10:g.79079401G>A	TOPMed
BHMT2	Q9H2M3	p.Gly67Val	rs1430568904	missense variant	-	NC_000005.10:g.79079402G>T	gnomAD
BHMT2	Q9H2M3	p.Ser68Ter	rs893268907	stop gained	-	NC_000005.10:g.79079405C>G	TOPMed
BHMT2	Q9H2M3	p.Val70Ala	COSM3856436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79079411T>C	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Met71Leu	rs754577679	missense variant	-	NC_000005.10:g.79079413A>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Gln72Ter	rs1393493813	stop gained	-	NC_000005.10:g.79079416C>T	gnomAD
BHMT2	Q9H2M3	p.Thr73Ala	rs1461706354	missense variant	-	NC_000005.10:g.79079419A>G	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Phe76Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79079430T>A	NCI-TCGA
BHMT2	Q9H2M3	p.Ala78Val	rs369043218	missense variant	-	NC_000005.10:g.79079435C>T	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ser79Gly	rs1343417402	missense variant	-	NC_000005.10:g.79079437A>G	gnomAD
BHMT2	Q9H2M3	p.Asp81Val	COSM3856437	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79079444A>T	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Asp81His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79079443G>C	NCI-TCGA
BHMT2	Q9H2M3	p.Asn82Asp	rs1363428940	missense variant	-	NC_000005.10:g.79079446A>G	gnomAD
BHMT2	Q9H2M3	p.Met83Thr	rs1399802451	missense variant	-	NC_000005.10:g.79079450T>C	TOPMed
BHMT2	Q9H2M3	p.Ser85Arg	rs1358995468	missense variant	-	NC_000005.10:g.79079457C>A	TOPMed
BHMT2	Q9H2M3	p.Lys86Glu	rs1292250330	missense variant	-	NC_000005.10:g.79079458A>G	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Trp87Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.79080688G>A	NCI-TCGA
BHMT2	Q9H2M3	p.Ala92Val	rs759107704	missense variant	-	NC_000005.10:g.79080703C>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala93Gly	rs1256888152	missense variant	-	NC_000005.10:g.79080706C>G	gnomAD
BHMT2	Q9H2M3	p.Ala94Val	rs764785479	missense variant	-	NC_000005.10:g.79080709C>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala94Asp	rs764785479	missense variant	-	NC_000005.10:g.79080709C>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asp96Val	rs752264068	missense variant	-	NC_000005.10:g.79080715A>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala98Thr	rs778188990	missense variant	-	NC_000005.10:g.79080720G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg99Lys	rs751918270	missense variant	-	NC_000005.10:g.79080724G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Arg99Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79080725G>T	NCI-TCGA
BHMT2	Q9H2M3	p.Glu100Gln	rs1205651368	missense variant	-	NC_000005.10:g.79080726G>C	gnomAD
BHMT2	Q9H2M3	p.Val101Met	rs781461273	missense variant	-	NC_000005.10:g.79080729G>A	ExAC
BHMT2	Q9H2M3	p.Ala102Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79080733C>T	NCI-TCGA
BHMT2	Q9H2M3	p.Gly103Ser	rs1436221716	missense variant	-	NC_000005.10:g.79080735G>A	gnomAD
BHMT2	Q9H2M3	p.Gly103Asp	COSM3856438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79080736G>A	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Lys104Glu	rs1334354722	missense variant	-	NC_000005.10:g.79080738A>G	gnomAD
BHMT2	Q9H2M3	p.Lys104Arg	rs1441858521	missense variant	-	NC_000005.10:g.79080739A>G	gnomAD
BHMT2	Q9H2M3	p.Lys104ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.79080737_79080740CAAA>-	NCI-TCGA
BHMT2	Q9H2M3	p.Gly105Asp	rs1280486444	missense variant	-	NC_000005.10:g.79080742G>A	gnomAD
BHMT2	Q9H2M3	p.Gly105Ser	COSM4894284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79080741G>A	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Asp106Asn	rs1379842616	missense variant	-	NC_000005.10:g.79080744G>A	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asp106Gly	rs1232707516	missense variant	-	NC_000005.10:g.79080745A>G	gnomAD
BHMT2	Q9H2M3	p.Ala107Thr	rs1279772050	missense variant	-	NC_000005.10:g.79080747G>A	gnomAD
BHMT2	Q9H2M3	p.Ala110Ser	rs1202433328	missense variant	-	NC_000005.10:g.79080756G>T	gnomAD
BHMT2	Q9H2M3	p.Gly111Val	rs770007608	missense variant	-	NC_000005.10:g.79080760G>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly112Glu	rs1182328977	missense variant	-	NC_000005.10:g.79080763G>A	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ile113SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.79080759G>-	NCI-TCGA
BHMT2	Q9H2M3	p.Ile113Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79080767C>G	NCI-TCGA
BHMT2	Q9H2M3	p.Cys114Ser	rs1306102144	missense variant	-	NC_000005.10:g.79080768T>A	TOPMed
BHMT2	Q9H2M3	p.Cys114Ter	rs780067563	stop gained	-	NC_000005.10:g.79080770C>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Gln115Arg	rs749393315	missense variant	-	NC_000005.10:g.79080772A>G	ExAC,gnomAD
BHMT2	Q9H2M3	p.Thr116Ala	rs772024385	missense variant	-	NC_000005.10:g.79080774A>G	ExAC
BHMT2	Q9H2M3	p.Thr116Lys	rs1419233285	missense variant	-	NC_000005.10:g.79080775C>A	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ser117Ter	rs1162176084	stop gained	-	NC_000005.10:g.79080778C>G	gnomAD
BHMT2	Q9H2M3	p.Tyr119Cys	rs376612694	missense variant	-	NC_000005.10:g.79080784A>G	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Tyr119Asn	rs1395189227	missense variant	-	NC_000005.10:g.79080783T>A	gnomAD
BHMT2	Q9H2M3	p.Tyr121Cys	rs746816858	missense variant	-	NC_000005.10:g.79080790A>G	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Tyr121Ter	rs1365365879	stop gained	-	NC_000005.10:g.79080790dup	TOPMed
BHMT2	Q9H2M3	p.Lys123Asn	rs138489722	missense variant	-	NC_000005.10:g.79080797G>T	ESP,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Glu125Val	rs1403936478	missense variant	-	NC_000005.10:g.79080802A>T	TOPMed
BHMT2	Q9H2M3	p.Arg127Ile	COSM1070383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79080808G>T	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Ile128Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79080810A>G	NCI-TCGA
BHMT2	Q9H2M3	p.Lys129Ter	rs776825802	stop gained	-	NC_000005.10:g.79080813A>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Lys129Thr	rs776582770	missense variant	-	NC_000005.10:g.79080814A>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Lys130Gln	rs960254666	missense variant	-	NC_000005.10:g.79080816A>C	TOPMed
BHMT2	Q9H2M3	p.Phe132Ser	rs369918380	missense variant	-	NC_000005.10:g.79080823T>C	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg133Ter	rs374028274	stop gained	-	NC_000005.10:g.79080825C>T	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg133Leu	rs369672073	missense variant	-	NC_000005.10:g.79080826G>T	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg133Gln	rs369672073	missense variant	-	NC_000005.10:g.79080826G>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gln134Ter	rs192601882	stop gained	-	NC_000005.10:g.79080828C>T	1000Genomes,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val138Leu	rs1196580762	missense variant	-	NC_000005.10:g.79080840G>C	gnomAD
BHMT2	Q9H2M3	p.Ala140Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79080846G>A	NCI-TCGA
BHMT2	Q9H2M3	p.Trp141Ter	rs1466937238	stop gained	-	NC_000005.10:g.79080851G>A	gnomAD
BHMT2	Q9H2M3	p.Trp141Ter	rs373649954	stop gained	-	NC_000005.10:g.79080850G>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val144Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79080859T>C	NCI-TCGA
BHMT2	Q9H2M3	p.Phe146Ser	rs750817109	missense variant	-	NC_000005.10:g.79080865T>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Phe146Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79080866C>A	NCI-TCGA
BHMT2	Q9H2M3	p.Leu147Trp	rs111267950	missense variant	-	NC_000005.10:g.79080868T>G	1000Genomes,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Leu147Phe	rs780305116	missense variant	-	NC_000005.10:g.79080869G>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Glu150Asp	rs749336349	missense variant	-	NC_000005.10:g.79080878G>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Tyr151His	rs756511426	missense variant	-	NC_000005.10:g.79082809T>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val155Ile	rs58580238	missense variant	-	NC_000005.10:g.79082821G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val155Asp	rs575954285	missense variant	-	NC_000005.10:g.79082822T>A	1000Genomes,ExAC,gnomAD
BHMT2	Q9H2M3	p.Val155Phe	rs58580238	missense variant	-	NC_000005.10:g.79082821G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Glu157Lys	rs748294761	missense variant	-	NC_000005.10:g.79082827G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Glu157Ter	rs748294761	stop gained	-	NC_000005.10:g.79082827G>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala158Gly	rs553174622	missense variant	-	NC_000005.10:g.79082831C>G	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala158Thr	rs757097154	missense variant	-	NC_000005.10:g.79082830G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala158Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79082831C>T	NCI-TCGA
BHMT2	Q9H2M3	p.Val159Ala	rs745650152	missense variant	-	NC_000005.10:g.79082834T>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Trp160Ter	rs764534566	stop gained	-	NC_000005.10:g.79082838G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala161Thr	rs780004951	missense variant	-	NC_000005.10:g.79082839G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Val162Met	rs1485163986	missense variant	-	NC_000005.10:g.79082842G>A	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val162Leu	rs1485163986	missense variant	-	NC_000005.10:g.79082842G>C	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val164Ala	rs768384975	missense variant	-	NC_000005.10:g.79082849T>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Val164Ile	rs1257338869	missense variant	-	NC_000005.10:g.79082848G>A	gnomAD
BHMT2	Q9H2M3	p.Leu165Phe	rs1180301619	missense variant	-	NC_000005.10:g.79082853A>T	gnomAD
BHMT2	Q9H2M3	p.Glu167Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.79082857G>T	NCI-TCGA
BHMT2	Q9H2M3	p.Ser168Thr	rs1214327603	missense variant	-	NC_000005.10:g.79082860T>A	TOPMed
BHMT2	Q9H2M3	p.Asp169Gly	rs773684741	missense variant	-	NC_000005.10:g.79082864A>G	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg170Lys	rs761434989	missense variant	-	NC_000005.10:g.79082867G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Val172Met	rs370387743	missense variant	-	NC_000005.10:g.79082872G>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val174Ile	rs1301255321	missense variant	-	NC_000005.10:g.79082878G>A	TOPMed
BHMT2	Q9H2M3	p.Met176Thr	rs201898332	missense variant	-	NC_000005.10:g.79082885T>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Met176Val	rs1389404866	missense variant	-	NC_000005.10:g.79082884A>G	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Cys177Tyr	rs1336348583	missense variant	-	NC_000005.10:g.79082888G>A	gnomAD
BHMT2	Q9H2M3	p.Ile178Thr	rs765522826	missense variant	-	NC_000005.10:g.79082891T>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Glu181Gln	rs1346466077	missense variant	-	NC_000005.10:g.79082899G>C	gnomAD
BHMT2	Q9H2M3	p.Gly182Arg	rs758567415	missense variant	-	NC_000005.10:g.79082902G>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly182Arg	rs758567415	missense variant	-	NC_000005.10:g.79082902G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly182Glu	COSM5527354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79082903G>A	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Asp183His	rs781258660	missense variant	-	NC_000005.10:g.79082905G>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Met184Ile	rs750325913	missense variant	-	NC_000005.10:g.79082910G>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Met184Val	rs1479445795	missense variant	-	NC_000005.10:g.79082908A>G	gnomAD
BHMT2	Q9H2M3	p.His185Arg	rs756123703	missense variant	-	NC_000005.10:g.79082912A>G	ExAC
BHMT2	Q9H2M3	p.Asp186Asn	rs867595257	missense variant	-	NC_000005.10:g.79082914G>A	gnomAD
BHMT2	Q9H2M3	p.Ile187Met	COSM1438723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79082919A>G	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Thr188Ile	rs139619947	missense variant	-	NC_000005.10:g.79082921C>T	ESP,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Thr188Asn	rs139619947	missense variant	-	NC_000005.10:g.79082921C>A	ESP,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Pro189Ser	rs796758654	missense variant	-	NC_000005.10:g.79082923C>T	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Pro189Leu	rs749129749	missense variant	-	NC_000005.10:g.79082924C>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly190Arg	rs145234986	missense variant	-	NC_000005.10:g.79082926G>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Glu191Ter	COSM169627	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.79082929G>T	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Glu191Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79082929G>A	NCI-TCGA
BHMT2	Q9H2M3	p.Ala193Val	rs1416968356	missense variant	-	NC_000005.10:g.79082936C>T	gnomAD
BHMT2	Q9H2M3	p.Arg195Ser	rs771630750	missense variant	-	NC_000005.10:g.79082943G>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Arg195Thr	rs147230129	missense variant	-	NC_000005.10:g.79082942G>C	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg195Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79082942G>A	NCI-TCGA
BHMT2	Q9H2M3	p.Ala201Pro	rs777227456	missense variant	-	NC_000005.10:g.79083194G>C	ExAC,TOPMed
BHMT2	Q9H2M3	p.Ala201Val	rs1222922357	missense variant	-	NC_000005.10:g.79083195C>T	gnomAD
BHMT2	Q9H2M3	p.Ala201Thr	rs777227456	missense variant	-	NC_000005.10:g.79083194G>A	ExAC,TOPMed
BHMT2	Q9H2M3	p.Val204Ile	rs139123468	missense variant	-	NC_000005.10:g.79083203G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val204Leu	rs139123468	missense variant	-	NC_000005.10:g.79083203G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val204Phe	rs139123468	missense variant	-	NC_000005.10:g.79083203G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly205Ser	rs777239278	missense variant	-	NC_000005.10:g.79083206G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Val206Met	rs746200705	missense variant	-	NC_000005.10:g.79083209G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg209His	rs770134001	missense variant	-	NC_000005.10:g.79083219G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg209Leu	rs770134001	missense variant	-	NC_000005.10:g.79083219G>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg209Cys	rs1264240478	missense variant	-	NC_000005.10:g.79083218C>T	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asp213Asn	rs763225133	missense variant	-	NC_000005.10:g.79083230G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asp213Gly	COSM1070385	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083231A>G	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Asp213Tyr	rs763225133	missense variant	-	NC_000005.10:g.79083230G>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Lys217Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083242A>C	NCI-TCGA
BHMT2	Q9H2M3	p.Thr218Lys	rs60797063	missense variant	-	NC_000005.10:g.79083246C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Thr218Met	rs60797063	missense variant	-	NC_000005.10:g.79083246C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Leu221His	rs766223004	missense variant	-	NC_000005.10:g.79083255T>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Leu221Pro	rs766223004	missense variant	-	NC_000005.10:g.79083255T>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Met222Val	rs753872600	missense variant	-	NC_000005.10:g.79083257A>G	ExAC,gnomAD
BHMT2	Q9H2M3	p.Met222Thr	rs370259397	missense variant	-	NC_000005.10:g.79083258T>C	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Glu224Gly	rs868419764	missense variant	-	NC_000005.10:g.79083264A>G	gnomAD
BHMT2	Q9H2M3	p.Glu224Gln	rs765018060	missense variant	-	NC_000005.10:g.79083263G>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Gly225Ser	rs1356031473	missense variant	-	NC_000005.10:g.79083266G>A	gnomAD
BHMT2	Q9H2M3	p.Ala229Ser	rs752522988	missense variant	-	NC_000005.10:g.79083278G>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala229Thr	rs752522988	missense variant	-	NC_000005.10:g.79083278G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly230Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083282G>T	NCI-TCGA
BHMT2	Q9H2M3	p.Leu231Arg	rs1292567028	missense variant	-	NC_000005.10:g.79083285T>G	gnomAD
BHMT2	Q9H2M3	p.Ala233Val	rs1215238410	missense variant	-	NC_000005.10:g.79083291C>T	gnomAD
BHMT2	Q9H2M3	p.His234Gln	rs1240000061	missense variant	-	NC_000005.10:g.79083295C>A	gnomAD
BHMT2	Q9H2M3	p.His234Tyr	rs777454085	missense variant	-	NC_000005.10:g.79083293C>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Met236Val	rs746494604	missense variant	-	NC_000005.10:g.79083299A>G	ExAC,gnomAD
BHMT2	Q9H2M3	p.Met236Ile	rs756813656	missense variant	-	NC_000005.10:g.79083301G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Met236Thr	rs1336403018	missense variant	-	NC_000005.10:g.79083300T>C	TOPMed
BHMT2	Q9H2M3	p.Val237Leu	rs60815816	missense variant	-	NC_000005.10:g.79083302G>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val237Met	rs60815816	missense variant	-	NC_000005.10:g.79083302G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Val237Ala	rs746316186	missense variant	-	NC_000005.10:g.79083303T>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Gln238Ter	rs770231553	stop gained	-	NC_000005.10:g.79083305C>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Pro239Ser	rs373414574	missense variant	-	NC_000005.10:g.79083308C>T	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Leu240Val	COSM6171939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083311C>G	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Ala244Val	rs761971562	missense variant	-	NC_000005.10:g.79083324C>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala244Thr	rs774781676	missense variant	-	NC_000005.10:g.79083323G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Pro245Ser	rs759479503	missense variant	-	NC_000005.10:g.79083326C>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Pro245Leu	rs1355888942	missense variant	-	NC_000005.10:g.79083327C>T	gnomAD
BHMT2	Q9H2M3	p.Asp246Gly	rs898851902	missense variant	-	NC_000005.10:g.79083330A>G	TOPMed
BHMT2	Q9H2M3	p.Gly248Asp	rs1055192452	missense variant	-	NC_000005.10:g.79083336G>A	TOPMed
BHMT2	Q9H2M3	p.Glu250Lys	rs752470111	missense variant	-	NC_000005.10:g.79083341G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Gly251Glu	rs376553846	missense variant	-	NC_000005.10:g.79083345G>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Phe252Ser	COSM3856439	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083348T>C	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Asp254Glu	rs1381659391	missense variant	-	NC_000005.10:g.79083355T>A	gnomAD
BHMT2	Q9H2M3	p.Asp254Glu	rs1381659391	missense variant	-	NC_000005.10:g.79083355T>G	gnomAD
BHMT2	Q9H2M3	p.Leu255Ile	rs149118863	missense variant	-	NC_000005.10:g.79083356C>A	1000Genomes,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Leu255His	rs141370708	missense variant	-	NC_000005.10:g.79083357T>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Pro256Leu	rs780709678	missense variant	-	NC_000005.10:g.79083360C>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Pro256Thr	COSM739151	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083359C>A	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Glu257Ala	rs749920892	missense variant	-	NC_000005.10:g.79083363A>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Pro259Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083368C>A	NCI-TCGA
BHMT2	Q9H2M3	p.Gly261Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083374G>C	NCI-TCGA
BHMT2	Q9H2M3	p.Leu262Pro	rs780702302	missense variant	-	NC_000005.10:g.79083631T>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Glu263Asp	rs779369733	missense variant	-	NC_000005.10:g.79083635G>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Glu263Gly	rs146677354	missense variant	-	NC_000005.10:g.79083634A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg265Lys	rs1317084891	missense variant	-	NC_000005.10:g.79083640G>A	gnomAD
BHMT2	Q9H2M3	p.Arg265Ile	rs1317084891	missense variant	-	NC_000005.10:g.79083640G>T	gnomAD
BHMT2	Q9H2M3	p.Arg265Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083640G>C	NCI-TCGA
BHMT2	Q9H2M3	p.Val266Ala	rs1212923178	missense variant	-	NC_000005.10:g.79083643T>C	TOPMed
BHMT2	Q9H2M3	p.Arg269Gly	rs1219075834	missense variant	-	NC_000005.10:g.79083651A>G	gnomAD
BHMT2	Q9H2M3	p.Arg269Thr	rs182593094	missense variant	-	NC_000005.10:g.79083652G>C	1000Genomes,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg269Lys	COSM3074616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083652G>A	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Asp271Asn	rs1332647731	missense variant	-	NC_000005.10:g.79083657G>A	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asp271His	rs1332647731	missense variant	-	NC_000005.10:g.79083657G>C	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gln273Glu	rs990949408	missense variant	-	NC_000005.10:g.79083663C>G	TOPMed
BHMT2	Q9H2M3	p.Lys274Asn	rs777902589	missense variant	-	NC_000005.10:g.79083668A>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala276Thr	rs199517002	missense variant	-	NC_000005.10:g.79083672G>A	1000Genomes,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala276Pro	rs199517002	missense variant	-	NC_000005.10:g.79083672G>C	1000Genomes,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg277Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083676G>C	NCI-TCGA
BHMT2	Q9H2M3	p.Ala279Thr	rs768615351	missense variant	-	NC_000005.10:g.79083681G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala279Val	rs774104136	missense variant	-	NC_000005.10:g.79083682C>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala279Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083682C>A	NCI-TCGA
BHMT2	Q9H2M3	p.Tyr280Cys	rs201662010	missense variant	-	NC_000005.10:g.79083685A>G	1000Genomes,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asn281Ser	rs750110300	missense variant	-	NC_000005.10:g.79083688A>G	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Asn281Lys	rs367660492	missense variant	-	NC_000005.10:g.79083689C>G	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly283Glu	rs1407696167	missense variant	-	NC_000005.10:g.79083694G>A	TOPMed
BHMT2	Q9H2M3	p.Val284Ile	rs765929227	missense variant	-	NC_000005.10:g.79083696G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Val284Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083697T>C	NCI-TCGA
BHMT2	Q9H2M3	p.Arg285Thr	rs753420320	missense variant	-	NC_000005.10:g.79083700G>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Arg285Gly	rs1421263082	missense variant	-	NC_000005.10:g.79083699A>G	TOPMed
BHMT2	Q9H2M3	p.Gly289Arg	rs765882378	missense variant	-	NC_000005.10:g.79083711G>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Cys290Gly	rs753080662	missense variant	-	NC_000005.10:g.79083714T>G	ExAC,gnomAD
BHMT2	Q9H2M3	p.Cys290Tyr	rs1243977604	missense variant	-	NC_000005.10:g.79083715G>A	gnomAD
BHMT2	Q9H2M3	p.Glu294Gln	rs1472378782	missense variant	-	NC_000005.10:g.79083726G>C	TOPMed
BHMT2	Q9H2M3	p.His297Arg	rs894589310	missense variant	-	NC_000005.10:g.79083736A>G	gnomAD
BHMT2	Q9H2M3	p.Ala302Thr	rs767995947	missense variant	-	NC_000005.10:g.79083750G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Glu303Lys	rs1202919076	missense variant	-	NC_000005.10:g.79083753G>A	gnomAD
BHMT2	Q9H2M3	p.Glu304Ter	rs1284652909	stop gained	-	NC_000005.10:g.79083756G>T	gnomAD
BHMT2	Q9H2M3	p.Arg309Met	rs1195339699	missense variant	-	NC_000005.10:g.79083772G>T	gnomAD
BHMT2	Q9H2M3	p.Arg309Gly	rs1012849436	missense variant	-	NC_000005.10:g.79083771A>G	-
BHMT2	Q9H2M3	p.Arg309Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083772G>A	NCI-TCGA
BHMT2	Q9H2M3	p.Leu312CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.79083777T>-	NCI-TCGA
BHMT2	Q9H2M3	p.Pro314Leu	rs747146838	missense variant	-	NC_000005.10:g.79083787C>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Glu317Lys	COSM3920376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083795G>A	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.His319Tyr	rs1250955240	missense variant	-	NC_000005.10:g.79083801C>T	TOPMed
BHMT2	Q9H2M3	p.Gly320Ser	rs781211473	missense variant	-	NC_000005.10:g.79083804G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Trp322Ter	rs368547794	stop gained	-	NC_000005.10:g.79083811G>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly323Val	rs376104626	missense variant	-	NC_000005.10:g.79083814G>T	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly323Glu	rs376104626	missense variant	-	NC_000005.10:g.79083814G>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Met328Leu	rs747971613	missense variant	-	NC_000005.10:g.79083828A>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Met328Val	rs747971613	missense variant	-	NC_000005.10:g.79083828A>G	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Thr330Pro	rs1160348166	missense variant	-	NC_000005.10:g.79083834A>C	gnomAD
BHMT2	Q9H2M3	p.Thr330Ser	COSM4799145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083834A>T	NCI-TCGA Cosmic
BHMT2	Q9H2M3	p.Lys331Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79083838A>C	NCI-TCGA
BHMT2	Q9H2M3	p.Pro332Ser	rs1382933300	missense variant	-	NC_000005.10:g.79083840C>T	gnomAD
BHMT2	Q9H2M3	p.Pro332Leu	rs1395296035	missense variant	-	NC_000005.10:g.79083841C>T	TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ile334Val	rs771697080	missense variant	-	NC_000005.10:g.79083846A>G	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ile334Phe	rs771697080	missense variant	-	NC_000005.10:g.79083846A>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg335Lys	rs760195361	missense variant	-	NC_000005.10:g.79083850G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg335Thr	rs760195361	missense variant	-	NC_000005.10:g.79083850G>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Ala336Val	rs1306687051	missense variant	-	NC_000005.10:g.79083853C>T	TOPMed
BHMT2	Q9H2M3	p.Arg337Thr	rs776248294	missense variant	-	NC_000005.10:g.79083856G>C	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala338Val	rs1361788977	missense variant	-	NC_000005.10:g.79088495C>T	TOPMed
BHMT2	Q9H2M3	p.Arg339Ter	rs372276376	stop gained	-	NC_000005.10:g.79088497C>T	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg339Gln	rs746838767	missense variant	-	NC_000005.10:g.79088498G>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg340Lys	rs138961781	missense variant	-	NC_000005.10:g.79088501G>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg340Gly	rs56053829	missense variant	-	NC_000005.10:g.79088500A>G	ExAC,gnomAD
BHMT2	Q9H2M3	p.Glu341Asp	rs375611100	missense variant	-	NC_000005.10:g.79088505G>C	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Tyr342Ter	rs764769227	stop gained	-	NC_000005.10:g.79088508T>A	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Tyr342His	rs1238162537	missense variant	-	NC_000005.10:g.79088506T>C	gnomAD
BHMT2	Q9H2M3	p.Trp343Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79088511G>T	NCI-TCGA
BHMT2	Q9H2M3	p.Glu344Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.79088513A>G	NCI-TCGA
BHMT2	Q9H2M3	p.Leu346Arg	rs763331564	missense variant	-	NC_000005.10:g.79088519T>G	ExAC,gnomAD
BHMT2	Q9H2M3	p.Leu346Val	rs775091606	missense variant	-	NC_000005.10:g.79088518C>G	ExAC,gnomAD
BHMT2	Q9H2M3	p.Leu347Pro	rs532321076	missense variant	-	NC_000005.10:g.79088522T>C	1000Genomes,ExAC,gnomAD
BHMT2	Q9H2M3	p.Ala349Thr	rs149000124	missense variant	-	NC_000005.10:g.79088527G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Gly351Arg	rs762225803	missense variant	-	NC_000005.10:g.79088533G>C	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Arg352Lys	rs143035984	missense variant	-	NC_000005.10:g.79088537G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Pro353His	rs148183648	missense variant	-	NC_000005.10:g.79088540C>A	ESP,ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Pro353Ser	rs750578244	missense variant	-	NC_000005.10:g.79088539C>T	ExAC,gnomAD
BHMT2	Q9H2M3	p.Pro353Thr	rs750578244	missense variant	-	NC_000005.10:g.79088539C>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ser357Leu	rs779948612	missense variant	-	NC_000005.10:g.79088552C>T	ExAC,TOPMed,gnomAD
BHMT2	Q9H2M3	p.Leu358Pro	rs1346775488	missense variant	-	NC_000005.10:g.79088555T>C	TOPMed
BHMT2	Q9H2M3	p.Leu358Met	rs777812797	missense variant	-	NC_000005.10:g.79088554C>A	ExAC,gnomAD
BHMT2	Q9H2M3	p.Ter364Arg	NCI-TCGA novel	frameshift	-	NC_000005.10:g.79088572_79088573TA>-	NCI-TCGA
CHRD	Q9H2X0	p.Pro2Ser	rs1251623870	missense variant	-	NC_000003.12:g.184380322C>T	gnomAD
CHRD	Q9H2X0	p.Pro2Leu	rs750188901	missense variant	-	NC_000003.12:g.184380323C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro5Leu	rs1412304749	missense variant	-	NC_000003.12:g.184380332C>T	gnomAD
CHRD	Q9H2X0	p.Ala6Val	rs1165639405	missense variant	-	NC_000003.12:g.184380335C>T	gnomAD
CHRD	Q9H2X0	p.Pro7Leu	rs1428139753	missense variant	-	NC_000003.12:g.184380338C>T	gnomAD
CHRD	Q9H2X0	p.Pro7Ser	rs1387135600	missense variant	-	NC_000003.12:g.184380337C>T	gnomAD
CHRD	Q9H2X0	p.Pro8Ala	rs1371335010	missense variant	-	NC_000003.12:g.184380340C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro8Arg	rs1410210437	missense variant	-	NC_000003.12:g.184380341C>G	gnomAD
CHRD	Q9H2X0	p.Ala9Gly	rs970737369	missense variant	-	NC_000003.12:g.184380344C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro10Leu	rs758294135	missense variant	-	NC_000003.12:g.184380347C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu11Met	rs575089684	missense variant	-	NC_000003.12:g.184380349C>A	1000Genomes,ExAC,gnomAD
CHRD	Q9H2X0	p.Leu12Arg	rs1273471851	missense variant	-	NC_000003.12:g.184380353T>G	gnomAD
CHRD	Q9H2X0	p.Pro23Ser	rs1483233327	missense variant	-	NC_000003.12:g.184380385C>T	gnomAD
CHRD	Q9H2X0	p.Ala24Val	rs1447743373	missense variant	-	NC_000003.12:g.184380389C>T	gnomAD
CHRD	Q9H2X0	p.Ala24Ser	rs1245099828	missense variant	-	NC_000003.12:g.184380388G>T	gnomAD
CHRD	Q9H2X0	p.Ala24Thr	rs1245099828	missense variant	-	NC_000003.12:g.184380388G>A	gnomAD
CHRD	Q9H2X0	p.Arg25Ser	rs1187929726	missense variant	-	NC_000003.12:g.184380391C>A	gnomAD
CHRD	Q9H2X0	p.Arg25His	rs1391049211	missense variant	-	NC_000003.12:g.184380392G>A	gnomAD
CHRD	Q9H2X0	p.Gly26Asp	rs1357181034	missense variant	-	NC_000003.12:g.184380395G>A	gnomAD
CHRD	Q9H2X0	p.Gly26Cys	rs1172328383	missense variant	-	NC_000003.12:g.184380394G>T	gnomAD
CHRD	Q9H2X0	p.Ala27Ser	rs1337326803	missense variant	-	NC_000003.12:g.184380397G>T	gnomAD
CHRD	Q9H2X0	p.Ala27Thr	rs1337326803	missense variant	-	NC_000003.12:g.184380397G>A	gnomAD
CHRD	Q9H2X0	p.Gly28Ser	rs920629607	missense variant	-	NC_000003.12:g.184380400G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly28Asp	rs1296166338	missense variant	-	NC_000003.12:g.184380401G>A	gnomAD
CHRD	Q9H2X0	p.Pro31Leu	rs1211185805	missense variant	-	NC_000003.12:g.184380410C>T	gnomAD
CHRD	Q9H2X0	p.Pro31Ser	rs983459137	missense variant	-	NC_000003.12:g.184380409C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro32Leu	rs1265542762	missense variant	-	NC_000003.12:g.184380413C>T	gnomAD
CHRD	Q9H2X0	p.Val33Met	rs944515168	missense variant	-	NC_000003.12:g.184380415G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro35His	rs1424656336	missense variant	-	NC_000003.12:g.184380422C>A	gnomAD
CHRD	Q9H2X0	p.Pro35Ser	rs1189689773	missense variant	-	NC_000003.12:g.184380421C>T	gnomAD
CHRD	Q9H2X0	p.Arg37Cys	rs1039298712	missense variant	-	NC_000003.12:g.184380427C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg37Leu	rs1176839795	missense variant	-	NC_000003.12:g.184380428G>T	gnomAD
CHRD	Q9H2X0	p.Pro44Ser	rs1319353718	missense variant	-	NC_000003.12:g.184380448C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Val45Ile	rs867146249	missense variant	-	NC_000003.12:g.184380451G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg46Gln	rs771072986	missense variant	-	NC_000003.12:g.184380455G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly47Arg	rs545545389	missense variant	-	NC_000003.12:g.184380457G>C	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala48Glu	rs1309514858	missense variant	-	NC_000003.12:g.184380461C>A	TOPMed
CHRD	Q9H2X0	p.Gly50Asp	rs781192276	missense variant	-	NC_000003.12:g.184380692G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly50Val	rs781192276	missense variant	-	NC_000003.12:g.184380692G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly50Arg	rs1297364171	missense variant	-	NC_000003.12:g.184380466G>C	TOPMed
CHRD	Q9H2X0	p.Gly50Ter	RCV000784960	frameshift	-	NC_000003.12:g.184380465del	ClinVar
CHRD	Q9H2X0	p.Thr52Ile	rs757349750	missense variant	-	NC_000003.12:g.184380698C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr52Asn	rs757349750	missense variant	-	NC_000003.12:g.184380698C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Phe53Leu	rs779067519	missense variant	-	NC_000003.12:g.184380700T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Phe53Val	COSM1042064	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184380700T>G	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Gly54Asp	rs775787241	missense variant	-	NC_000003.12:g.184380704G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly54Ser	rs772413432	missense variant	-	NC_000003.12:g.184380703G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Tyr58His	rs768990411	missense variant	-	NC_000003.12:g.184380715T>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala59Asp	rs1056163964	missense variant	-	NC_000003.12:g.184380719C>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu60Phe	rs1343986291	missense variant	-	NC_000003.12:g.184380723G>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu60Ser	rs761370761	missense variant	-	NC_000003.12:g.184380722T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Glu62Asp	rs1409635263	missense variant	-	NC_000003.12:g.184380729G>C	gnomAD
CHRD	Q9H2X0	p.Glu62Lys	rs1368257272	missense variant	-	NC_000003.12:g.184380727G>A	gnomAD
CHRD	Q9H2X0	p.Thr63Arg	rs769465205	missense variant	-	NC_000003.12:g.184380731C>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Trp64Ter	rs1338099994	stop gained	-	NC_000003.12:g.184380734G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.His65Tyr	rs1446422755	missense variant	-	NC_000003.12:g.184380736C>T	gnomAD
CHRD	Q9H2X0	p.Pro66Thr	rs1360243647	missense variant	-	NC_000003.12:g.184380739C>A	gnomAD
CHRD	Q9H2X0	p.Pro66Leu	rs1248196449	missense variant	-	NC_000003.12:g.184380740C>T	gnomAD
CHRD	Q9H2X0	p.Gly69Arg	rs766189404	missense variant	-	NC_000003.12:g.184380748G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly73Arg	rs1439529820	missense variant	-	NC_000003.12:g.184380760G>A	gnomAD
CHRD	Q9H2X0	p.Val74Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184380764T>C	NCI-TCGA
CHRD	Q9H2X0	p.Arg76Leu	rs1236444255	missense variant	-	NC_000003.12:g.184380770G>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg76Ser	rs1193635610	missense variant	-	NC_000003.12:g.184380769C>A	TOPMed
CHRD	Q9H2X0	p.Arg76His	rs1236444255	missense variant	-	NC_000003.12:g.184380770G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu79Pro	rs1184862027	missense variant	-	NC_000003.12:g.184380779T>C	gnomAD
CHRD	Q9H2X0	p.Cys80Tyr	rs759391287	missense variant	-	NC_000003.12:g.184380782G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Cys80Ter	rs1317204165	stop gained	-	NC_000003.12:g.184380783C>A	gnomAD
CHRD	Q9H2X0	p.Ala81Thr	rs767309911	missense variant	-	NC_000003.12:g.184380784G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu83Lys	rs1168896135	missense variant	-	NC_000003.12:g.184380790G>A	gnomAD
CHRD	Q9H2X0	p.Glu83Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184380790G>C	NCI-TCGA
CHRD	Q9H2X0	p.Ala84Val	rs1490361334	missense variant	-	NC_000003.12:g.184380794C>T	TOPMed
CHRD	Q9H2X0	p.Pro85Ser	rs1457647875	missense variant	-	NC_000003.12:g.184381235C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gln86Glu	rs1422146350	missense variant	-	NC_000003.12:g.184381238C>G	TOPMed
CHRD	Q9H2X0	p.Trp87Ter	rs767859402	stop gained	-	NC_000003.12:g.184381242G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Trp87Leu	rs767859402	missense variant	-	NC_000003.12:g.184381242G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Trp87Gly	rs1367614437	missense variant	-	NC_000003.12:g.184381241T>G	gnomAD
CHRD	Q9H2X0	p.Gly88Ser	rs753056932	missense variant	-	NC_000003.12:g.184381244G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg89Leu	rs778386345	missense variant	-	NC_000003.12:g.184381248G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg89Gly	rs756571427	missense variant	-	NC_000003.12:g.184381247C>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg90Cys	rs749842503	missense variant	-	NC_000003.12:g.184381250C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr91Ser	rs1477794814	missense variant	-	NC_000003.12:g.184381254C>G	TOPMed
CHRD	Q9H2X0	p.Gly93Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381259G>A	NCI-TCGA
CHRD	Q9H2X0	p.Pro94Ser	rs34095724	missense variant	-	NC_000003.12:g.184381262C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly95Asp	COSM1421376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184381266G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Arg96Ser	rs1361101870	missense variant	-	NC_000003.12:g.184381270G>T	gnomAD
CHRD	Q9H2X0	p.Arg96Lys	rs1292056989	missense variant	-	NC_000003.12:g.184381269G>A	gnomAD
CHRD	Q9H2X0	p.Cys99Trp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381279C>G	NCI-TCGA
CHRD	Q9H2X0	p.Pro104Leu	rs138217536	missense variant	-	NC_000003.12:g.184381293C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro104Ala	COSM1421377	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184381292C>G	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Thr108Asn	rs771653468	missense variant	-	NC_000003.12:g.184381305C>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr108Ser	rs1265075233	missense variant	-	NC_000003.12:g.184381304A>T	TOPMed
CHRD	Q9H2X0	p.Thr108Ile	rs771653468	missense variant	-	NC_000003.12:g.184381305C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro109Leu	rs775144152	missense variant	-	NC_000003.12:g.184381308C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala110Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381311C>T	NCI-TCGA
CHRD	Q9H2X0	p.Cys111Tyr	rs1184247852	missense variant	-	NC_000003.12:g.184381314G>A	gnomAD
CHRD	Q9H2X0	p.Gly112Glu	rs1387344413	missense variant	-	NC_000003.12:g.184381317G>A	gnomAD
CHRD	Q9H2X0	p.Pro114Arg	rs1032783409	missense variant	-	NC_000003.12:g.184381323C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro114Leu	rs1032783409	missense variant	-	NC_000003.12:g.184381323C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg115His	rs1222898902	missense variant	-	NC_000003.12:g.184381326G>A	gnomAD
CHRD	Q9H2X0	p.Arg115Gly	rs1283303932	missense variant	-	NC_000003.12:g.184381325C>G	TOPMed
CHRD	Q9H2X0	p.Gln116Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381329A>G	NCI-TCGA
CHRD	Q9H2X0	p.Pro118Gln	rs201984321	missense variant	-	NC_000003.12:g.184381335C>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro118Leu	rs201984321	missense variant	-	NC_000003.12:g.184381335C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly119Glu	rs1462481609	missense variant	-	NC_000003.12:g.184381338G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.His120Asn	rs201020400	missense variant	-	NC_000003.12:g.184381340C>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Cys121Tyr	rs1315078759	missense variant	-	NC_000003.12:g.184381344G>A	gnomAD
CHRD	Q9H2X0	p.Gln123His	rs1295386994	missense variant	-	NC_000003.12:g.184381351G>C	gnomAD
CHRD	Q9H2X0	p.Gln123Pro	rs1225723523	missense variant	-	NC_000003.12:g.184381350A>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gln123Leu	rs1225723523	missense variant	-	NC_000003.12:g.184381350A>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Cys125Tyr	rs1254798449	missense variant	-	NC_000003.12:g.184381356G>A	gnomAD
CHRD	Q9H2X0	p.Cys125Arg	rs766368325	missense variant	-	NC_000003.12:g.184381355T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg129Leu	rs572984824	missense variant	-	NC_000003.12:g.184381499G>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg129His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381499G>A	NCI-TCGA
CHRD	Q9H2X0	p.Ser130Asn	rs1268376877	missense variant	-	NC_000003.12:g.184381502G>A	gnomAD
CHRD	Q9H2X0	p.Ser131Arg	rs749287992	missense variant	-	NC_000003.12:g.184381504A>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Glu133Lys	rs35087408	missense variant	-	NC_000003.12:g.184381510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg134Gln	rs776748999	missense variant	-	NC_000003.12:g.184381514G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg134Trp	rs768871806	missense variant	-	NC_000003.12:g.184381513C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro136Arg	rs980833271	missense variant	-	NC_000003.12:g.184381520C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro136Gln	rs980833271	missense variant	-	NC_000003.12:g.184381520C>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro136Ser	rs1402148027	missense variant	-	NC_000003.12:g.184381519C>T	gnomAD
CHRD	Q9H2X0	p.Pro136Leu	rs980833271	missense variant	-	NC_000003.12:g.184381520C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser137Asn	rs373792812	missense variant	-	NC_000003.12:g.184381523G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser137Arg	rs765566662	missense variant	-	NC_000003.12:g.184381524C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly138Cys	rs1334564555	missense variant	-	NC_000003.12:g.184381525G>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly138Ser	rs1334564555	missense variant	-	NC_000003.12:g.184381525G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu139Arg	rs1246050210	missense variant	-	NC_000003.12:g.184381529T>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser140Pro	rs750912862	missense variant	-	NC_000003.12:g.184381531T>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser140Ala	rs750912862	missense variant	-	NC_000003.12:g.184381531T>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Phe141Leu	rs763515621	missense variant	-	NC_000003.12:g.184381536C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro144Leu	rs766879394	missense variant	-	NC_000003.12:g.184381544C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg145Trp	rs376748609	missense variant	-	NC_000003.12:g.184381546C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro147Gln	rs1180988366	missense variant	-	NC_000003.12:g.184381553C>A	gnomAD
CHRD	Q9H2X0	p.Pro147Ala	rs754508907	missense variant	-	NC_000003.12:g.184381552C>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro147Leu	rs1180988366	missense variant	-	NC_000003.12:g.184381553C>T	gnomAD
CHRD	Q9H2X0	p.Glu148GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184381550_184381551insC	NCI-TCGA
CHRD	Q9H2X0	p.Ser151Arg	rs1243051499	missense variant	-	NC_000003.12:g.184381564A>C	TOPMed
CHRD	Q9H2X0	p.Ser153Gly	rs777956202	missense variant	-	NC_000003.12:g.184381570A>G	TOPMed
CHRD	Q9H2X0	p.Ser153Arg	rs1384470175	missense variant	-	NC_000003.12:g.184381572C>G	TOPMed
CHRD	Q9H2X0	p.Asp154Gly	rs777487132	missense variant	-	NC_000003.12:g.184381574A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp154Asn	rs1444844554	missense variant	-	NC_000003.12:g.184381573G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg155Ser	rs192063183	missense variant	-	NC_000003.12:g.184381576C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg155Gly	rs192063183	missense variant	-	NC_000003.12:g.184381576C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly156Trp	rs1010020967	missense variant	-	NC_000003.12:g.184381579G>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly156Arg	rs1010020967	missense variant	-	NC_000003.12:g.184381579G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly156Arg	rs1010020967	missense variant	-	NC_000003.12:g.184381579G>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu157Lys	rs779015930	missense variant	-	NC_000003.12:g.184381582G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro158Ala	rs373789484	missense variant	-	NC_000003.12:g.184381585C>G	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro158Leu	rs776887601	missense variant	-	NC_000003.12:g.184381586C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro158Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381585C>T	NCI-TCGA
CHRD	Q9H2X0	p.Gly159Asp	rs748373553	missense variant	-	NC_000003.12:g.184381589G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu161Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381594G>A	NCI-TCGA
CHRD	Q9H2X0	p.Arg163Gln	rs1194951406	missense variant	-	NC_000003.12:g.184381601G>A	gnomAD
CHRD	Q9H2X0	p.Ala164Val	rs1273670983	missense variant	-	NC_000003.12:g.184381604C>T	gnomAD
CHRD	Q9H2X0	p.Arg165His	rs1241953931	missense variant	-	NC_000003.12:g.184381607G>A	gnomAD
CHRD	Q9H2X0	p.Arg165Cys	rs1201286138	missense variant	-	NC_000003.12:g.184381606C>T	gnomAD
CHRD	Q9H2X0	p.Gly166Asp	rs149561137	missense variant	-	NC_000003.12:g.184381610G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly166Cys	rs1444936224	missense variant	-	NC_000003.12:g.184381609G>T	gnomAD
CHRD	Q9H2X0	p.Gly166Val	rs149561137	missense variant	-	NC_000003.12:g.184381610G>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp167Asn	rs1370917340	missense variant	-	NC_000003.12:g.184381612G>A	gnomAD
CHRD	Q9H2X0	p.Gly168Ala	rs766825882	missense variant	-	NC_000003.12:g.184381616G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr170Lys	rs759057662	missense variant	-	NC_000003.12:g.184381622C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr170Ala	rs774872526	missense variant	-	NC_000003.12:g.184381621A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp171Tyr	rs766987083	missense variant	-	NC_000003.12:g.184381624G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp171Asn	rs766987083	missense variant	-	NC_000003.12:g.184381624G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp171Val	rs781191897	missense variant	-	NC_000003.12:g.184381716A>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp171His	rs766987083	missense variant	-	NC_000003.12:g.184381624G>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Phe172Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381720C>G	NCI-TCGA
CHRD	Q9H2X0	p.Leu176Val	rs1342127387	missense variant	-	NC_000003.12:g.184381730C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg186Gln	rs147255516	missense variant	-	NC_000003.12:g.184381761G>A	ESP,ExAC,TOPMed
CHRD	Q9H2X0	p.Arg186Gly	rs1316493652	missense variant	-	NC_000003.12:g.184381760C>G	TOPMed
CHRD	Q9H2X0	p.Arg186Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.184381760C>T	NCI-TCGA
CHRD	Q9H2X0	p.Ala187Pro	rs1024839113	missense variant	-	NC_000003.12:g.184381763G>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala187Ser	rs1024839113	missense variant	-	NC_000003.12:g.184381763G>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg188Gln	rs749615885	missense variant	-	NC_000003.12:g.184381767G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg188Gly	rs948134779	missense variant	-	NC_000003.12:g.184381766C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Val189Ala	rs1270267161	missense variant	-	NC_000003.12:g.184381770T>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Val189Ile	rs1199106028	missense variant	-	NC_000003.12:g.184381769G>A	gnomAD
CHRD	Q9H2X0	p.Ser190Leu	rs527889467	missense variant	-	NC_000003.12:g.184381773C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg193Pro	rs767049939	missense variant	-	NC_000003.12:g.184381782G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg193Ser	rs760021605	missense variant	-	NC_000003.12:g.184381781C>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg193His	rs767049939	missense variant	-	NC_000003.12:g.184381782G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu196Phe	rs763799901	missense variant	-	NC_000003.12:g.184381790C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu196Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381790C>A	NCI-TCGA
CHRD	Q9H2X0	p.Arg197Cys	rs202036042	missense variant	-	NC_000003.12:g.184381793C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg197His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381794G>A	NCI-TCGA
CHRD	Q9H2X0	p.Arg197Leu	rs1432298729	missense variant	-	NC_000003.12:g.184381794G>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ile200Val	rs1388438430	missense variant	-	NC_000003.12:g.184381802A>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Tyr202Cys	rs765178293	missense variant	-	NC_000003.12:g.184381809A>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Tyr202Ser	rs765178293	missense variant	-	NC_000003.12:g.184381809A>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg203Trp	rs908278237	missense variant	-	NC_000003.12:g.184381811A>T	TOPMed
CHRD	Q9H2X0	p.Asp206Tyr	rs370466131	missense variant	-	NC_000003.12:g.184381937G>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg207Ser	rs539389142	missense variant	-	NC_000003.12:g.184381940C>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg207Leu	rs777889535	missense variant	-	NC_000003.12:g.184381941G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg207His	rs777889535	missense variant	-	NC_000003.12:g.184381941G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg207Gly	rs539389142	missense variant	-	NC_000003.12:g.184381940C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg207Pro	rs777889535	missense variant	-	NC_000003.12:g.184381941G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg207Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381940C>T	NCI-TCGA
CHRD	Q9H2X0	p.Pro208Ser	rs757403903	missense variant	-	NC_000003.12:g.184381943C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg210Lys	rs1210118589	missense variant	-	NC_000003.12:g.184381950G>A	TOPMed
CHRD	Q9H2X0	p.Arg212Gly	rs138912825	missense variant	-	NC_000003.12:g.184381955C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg212His	rs746178513	missense variant	-	NC_000003.12:g.184381956G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg212Cys	rs138912825	missense variant	-	NC_000003.12:g.184381955C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser214Ter	COSM1308895	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184381962C>G	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ser214Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381962C>T	NCI-TCGA
CHRD	Q9H2X0	p.Ser216Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184381968C>A	NCI-TCGA
CHRD	Q9H2X0	p.Asn217Lys	rs772526782	missense variant	-	NC_000003.12:g.184381972T>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Asn217Ser	rs1052458821	missense variant	-	NC_000003.12:g.184381971A>G	TOPMed
CHRD	Q9H2X0	p.Val220Ile	rs747607991	missense variant	-	NC_000003.12:g.184381979G>A	ExAC
CHRD	Q9H2X0	p.Phe222Leu	rs1403251912	missense variant	-	NC_000003.12:g.184381987T>A	gnomAD
CHRD	Q9H2X0	p.Pro225His	COSM1042065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184381995C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ala226Val	rs1353299517	missense variant	-	NC_000003.12:g.184381998C>T	TOPMed
CHRD	Q9H2X0	p.Pro228Leu	rs776211729	missense variant	-	NC_000003.12:g.184382004C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr229ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184382001C>-	NCI-TCGA
CHRD	Q9H2X0	p.Asp231Gly	rs761418019	missense variant	-	NC_000003.12:g.184382013A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp231Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184382014T>A	NCI-TCGA
CHRD	Q9H2X0	p.Gly232Ser	rs753347321	missense variant	-	NC_000003.12:g.184382015G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly236Ala	rs1266713936	missense variant	-	NC_000003.12:g.184382396G>C	gnomAD
CHRD	Q9H2X0	p.Val237Leu	rs767394438	missense variant	-	NC_000003.12:g.184382398G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Trp238Ter	COSM1042066	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184382403G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Arg239Trp	rs1191336636	missense variant	-	NC_000003.12:g.184382404C>T	gnomAD
CHRD	Q9H2X0	p.Arg239Gln	rs1234755179	missense variant	-	NC_000003.12:g.184382405G>A	TOPMed
CHRD	Q9H2X0	p.Val241Ala	rs1398392437	missense variant	-	NC_000003.12:g.184382411T>C	gnomAD
CHRD	Q9H2X0	p.Pro242His	COSM1042067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382414C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Arg243Pro	rs147593063	missense variant	-	NC_000003.12:g.184382417G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg243Leu	rs147593063	missense variant	-	NC_000003.12:g.184382417G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg243Gln	rs147593063	missense variant	-	NC_000003.12:g.184382417G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg243Trp	rs761857445	missense variant	-	NC_000003.12:g.184382416C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg243Gly	rs761857445	missense variant	-	NC_000003.12:g.184382416C>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Ser245Thr	rs766519819	missense variant	-	NC_000003.12:g.184382422T>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser245Phe	COSM4899942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382423C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Arg247Pro	rs147436706	missense variant	-	NC_000003.12:g.184382429G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg247Gly	rs186990063	missense variant	-	NC_000003.12:g.184382428C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg247Trp	rs186990063	missense variant	-	NC_000003.12:g.184382428C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg247Gln	rs147436706	missense variant	-	NC_000003.12:g.184382429G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu249Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184382434C>A	NCI-TCGA
CHRD	Q9H2X0	p.Ala251Val	rs777411613	missense variant	-	NC_000003.12:g.184382441C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala251Glu	rs777411613	missense variant	-	NC_000003.12:g.184382441C>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu254Pro	rs1356064214	missense variant	-	NC_000003.12:g.184382450T>C	gnomAD
CHRD	Q9H2X0	p.His255Tyr	rs774016296	missense variant	-	NC_000003.12:g.184382452C>T	ExAC
CHRD	Q9H2X0	p.Ala257Thr	COSM3590782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382458G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Leu258Arg	rs1218569991	missense variant	-	NC_000003.12:g.184382462T>G	gnomAD
CHRD	Q9H2X0	p.Val259Ala	COSM1042068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382465T>C	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Thr260Ile	rs1490182810	missense variant	-	NC_000003.12:g.184382468C>T	gnomAD
CHRD	Q9H2X0	p.Leu261Val	rs745630288	missense variant	-	NC_000003.12:g.184382470C>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu261Phe	rs745630288	missense variant	-	NC_000003.12:g.184382470C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr262Ile	rs1441784185	missense variant	-	NC_000003.12:g.184382474C>T	TOPMed
CHRD	Q9H2X0	p.Pro264Leu	rs537984257	missense variant	-	NC_000003.12:g.184382480C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu267Gln	rs1468179733	missense variant	-	NC_000003.12:g.184382488G>C	gnomAD
CHRD	Q9H2X0	p.Val268Phe	rs763939807	missense variant	-	NC_000003.12:g.184382491G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Trp269Ter	rs1441129215	stop gained	-	NC_000003.12:g.184382496G>A	gnomAD
CHRD	Q9H2X0	p.Pro271Leu	rs1162140853	missense variant	-	NC_000003.12:g.184382501C>T	gnomAD
CHRD	Q9H2X0	p.Arg274Trp	rs142618898	missense variant	-	NC_000003.12:g.184382509C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg274Gly	rs142618898	missense variant	-	NC_000003.12:g.184382509C>G	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg274Gln	rs751873659	missense variant	-	NC_000003.12:g.184382510G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg276Trp	rs556293982	missense variant	-	NC_000003.12:g.184382515C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg276Pro	rs577771873	missense variant	-	NC_000003.12:g.184382516G>C	1000Genomes,ExAC,gnomAD
CHRD	Q9H2X0	p.Arg276Gln	rs577771873	missense variant	-	NC_000003.12:g.184382516G>A	1000Genomes,ExAC,gnomAD
CHRD	Q9H2X0	p.Ala277Asp	rs1379477596	missense variant	-	NC_000003.12:g.184382519C>A	gnomAD
CHRD	Q9H2X0	p.Ala277Pro	rs1355445151	missense variant	-	NC_000003.12:g.184382518G>C	TOPMed
CHRD	Q9H2X0	p.Thr282Asn	rs745959400	missense variant	-	NC_000003.12:g.184382637C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Ser284Gly	rs547793649	missense variant	-	NC_000003.12:g.184382642A>G	1000Genomes,ExAC,gnomAD
CHRD	Q9H2X0	p.Ala285Ser	rs1278802269	missense variant	-	NC_000003.12:g.184382645G>T	gnomAD
CHRD	Q9H2X0	p.Ala285Gly	rs1342243004	missense variant	-	NC_000003.12:g.184382646C>G	gnomAD
CHRD	Q9H2X0	p.Ile286Thr	rs1254875553	missense variant	-	NC_000003.12:g.184382649T>C	gnomAD
CHRD	Q9H2X0	p.Ile286Val	rs775607714	missense variant	-	NC_000003.12:g.184382648A>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu287Pro	rs761071202	missense variant	-	NC_000003.12:g.184382652T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr288Ile	rs1451857103	missense variant	-	NC_000003.12:g.184382655C>T	TOPMed
CHRD	Q9H2X0	p.Leu289Pro	rs764422897	missense variant	-	NC_000003.12:g.184382658T>C	ExAC
CHRD	Q9H2X0	p.Glu290Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184382660G>C	NCI-TCGA
CHRD	Q9H2X0	p.Gly291Cys	rs901103484	missense variant	-	NC_000003.12:g.184382663G>T	TOPMed
CHRD	Q9H2X0	p.Pro292Ser	rs1281618131	missense variant	-	NC_000003.12:g.184382666C>T	gnomAD
CHRD	Q9H2X0	p.Pro293Arg	rs1259263385	missense variant	-	NC_000003.12:g.184382670C>G	TOPMed
CHRD	Q9H2X0	p.Pro293Ser	COSM1693892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382669C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Gly296Val	rs1266031405	missense variant	-	NC_000003.12:g.184382679G>T	gnomAD
CHRD	Q9H2X0	p.Gly296Ser	rs1194774757	missense variant	-	NC_000003.12:g.184382678G>A	gnomAD
CHRD	Q9H2X0	p.Val297Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184382681G>C	NCI-TCGA
CHRD	Q9H2X0	p.Val297Ile	rs375530942	missense variant	-	NC_000003.12:g.184382681G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val297Leu	rs375530942	missense variant	-	NC_000003.12:g.184382681G>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly298Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184382685G>A	NCI-TCGA
CHRD	Q9H2X0	p.Gly299AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184382684G>-	NCI-TCGA
CHRD	Q9H2X0	p.Thr301Ala	rs1234182174	missense variant	-	NC_000003.12:g.184382693A>G	TOPMed
CHRD	Q9H2X0	p.Leu302Met	COSM730204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382696C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Leu303Phe	rs1321881115	missense variant	-	NC_000003.12:g.184382699C>T	TOPMed
CHRD	Q9H2X0	p.Leu303Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184382699C>A	NCI-TCGA
CHRD	Q9H2X0	p.Leu303Pro	rs754791096	missense variant	-	NC_000003.12:g.184382700T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr304Ile	rs139538414	missense variant	-	NC_000003.12:g.184382703C>T	ESP,ExAC
CHRD	Q9H2X0	p.Leu305Val	rs368929634	missense variant	-	NC_000003.12:g.184382705C>G	ESP,ExAC,gnomAD
CHRD	Q9H2X0	p.Thr308Ala	rs1384830210	missense variant	-	NC_000003.12:g.184382714A>G	TOPMed
CHRD	Q9H2X0	p.Thr308Ile	rs373031272	missense variant	-	NC_000003.12:g.184382715C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp310Ala	rs1467128875	missense variant	-	NC_000003.12:g.184382721A>C	TOPMed
CHRD	Q9H2X0	p.His313Tyr	COSM1042069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382729C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Leu317Phe	rs747261211	missense variant	-	NC_000003.12:g.184382741C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu317Pro	rs768926833	missense variant	-	NC_000003.12:g.184382742T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu317Val	rs747261211	missense variant	-	NC_000003.12:g.184382741C>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg319Leu	rs762183304	missense variant	-	NC_000003.12:g.184382748G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg319Gln	rs762183304	missense variant	-	NC_000003.12:g.184382748G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu323Lys	COSM3331418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382759G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Pro324Ser	rs370155085	missense variant	-	NC_000003.12:g.184382762C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly327Arg	rs368023006	missense variant	-	NC_000003.12:g.184382771G>C	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly327Arg	rs368023006	missense variant	-	NC_000003.12:g.184382771G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly328Glu	rs748477109	missense variant	-	NC_000003.12:g.184382856G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly328Arg	rs765865447	missense variant	-	NC_000003.12:g.184382774G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu329Val	rs12629962	missense variant	-	NC_000003.12:g.184382858C>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu329Ile	rs12629962	missense variant	-	NC_000003.12:g.184382858C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln331His	rs771476659	missense variant	-	NC_000003.12:g.184382866G>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val332Phe	rs1369890185	missense variant	-	NC_000003.12:g.184382867G>T	TOPMed
CHRD	Q9H2X0	p.Pro333Ser	COSM3590784	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382870C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Leu334Phe	COSM6164106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382875G>C	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ile338Ser	rs1397998409	missense variant	-	NC_000003.12:g.184382886T>G	TOPMed
CHRD	Q9H2X0	p.Leu339Ile	rs759112929	missense variant	-	NC_000003.12:g.184382888C>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly342Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184382897G>A	NCI-TCGA
CHRD	Q9H2X0	p.Leu344Ile	rs752438053	missense variant	-	NC_000003.12:g.184382903C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu345Val	rs1170384847	missense variant	-	NC_000003.12:g.184382906C>G	TOPMed
CHRD	Q9H2X0	p.Arg346Gln	rs549967594	missense variant	-	NC_000003.12:g.184382910G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg346Ter	rs1380063832	stop gained	-	NC_000003.12:g.184382909C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu347Lys	rs1180920375	missense variant	-	NC_000003.12:g.184382912G>A	TOPMed
CHRD	Q9H2X0	p.Leu348His	COSM1042070	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184382916T>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Asn351Lys	rs757202426	missense variant	-	NC_000003.12:g.184382926T>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Asn351Ser	rs753689268	missense variant	-	NC_000003.12:g.184382925A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Val352Ile	rs778931730	missense variant	-	NC_000003.12:g.184382927G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln355Arg	rs1422746627	missense variant	-	NC_000003.12:g.184382937A>G	gnomAD
CHRD	Q9H2X0	p.Glu356Asp	rs763851446	missense variant	-	NC_000003.12:g.184383018A>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro357Leu	rs753637262	missense variant	-	NC_000003.12:g.184383020C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Ala360Ser	COSM730203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184383028G>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Asn365Ser	COSM4451174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184383044A>G	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Gln369Arg	rs781314356	missense variant	-	NC_000003.12:g.184383056A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Glu370Ter	rs752780835	stop gained	-	NC_000003.12:g.184383058G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Glu370Lys	COSM446103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184383058G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Glu370Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184383060G>T	NCI-TCGA
CHRD	Q9H2X0	p.Met371Ile	rs1398344110	missense variant	-	NC_000003.12:g.184383063G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp372Asn	rs146674509	missense variant	-	NC_000003.12:g.184383064G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp372His	rs146674509	missense variant	-	NC_000003.12:g.184383064G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Trp373Ter	rs1360481690	stop gained	-	NC_000003.12:g.184383069G>A	gnomAD
CHRD	Q9H2X0	p.Val375Gly	rs777996256	missense variant	-	NC_000003.12:g.184383074T>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly377Ala	rs1361813076	missense variant	-	NC_000003.12:g.184383080G>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly377Glu	rs1361813076	missense variant	-	NC_000003.12:g.184383080G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly377Arg	rs749616265	missense variant	-	NC_000003.12:g.184383079G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu378Lys	rs1402383397	missense variant	-	NC_000003.12:g.184383082G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu378Gly	rs757681498	missense variant	-	NC_000003.12:g.184383083A>G	ExAC
CHRD	Q9H2X0	p.Glu378Gln	rs1402383397	missense variant	-	NC_000003.12:g.184383082G>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gln380His	rs779266864	missense variant	-	NC_000003.12:g.184383090G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu383Pro	rs1366999149	missense variant	-	NC_000003.12:g.184383098T>C	gnomAD
CHRD	Q9H2X0	p.Glu384Lys	rs1303708992	missense variant	-	NC_000003.12:g.184383100G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Trp385Arg	rs1378480594	missense variant	-	NC_000003.12:g.184383103T>C	gnomAD
CHRD	Q9H2X0	p.Trp385Ter	rs1315328760	stop gained	-	NC_000003.12:g.184383104G>A	gnomAD
CHRD	Q9H2X0	p.Trp385Ter	rs1235763129	stop gained	-	NC_000003.12:g.184383105G>A	TOPMed
CHRD	Q9H2X0	p.Ala386Gly	rs374861567	missense variant	-	NC_000003.12:g.184383107C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala386Val	rs374861567	missense variant	-	NC_000003.12:g.184383107C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly387Ser	rs34147749	missense variant	-	NC_000003.12:g.184383109G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg388Lys	rs1214800672	missense variant	-	NC_000003.12:g.184383113G>A	TOPMed
CHRD	Q9H2X0	p.Gly390Arg	rs1244844100	missense variant	-	NC_000003.12:g.184383118G>A	gnomAD
CHRD	Q9H2X0	p.Gly390Glu	rs1487884566	missense variant	-	NC_000003.12:g.184383119G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg392Ser	rs543627744	missense variant	-	NC_000003.12:g.184383124C>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg392Cys	rs543627744	missense variant	-	NC_000003.12:g.184383124C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg392His	rs201032668	missense variant	-	NC_000003.12:g.184383125G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser394Arg	rs773015914	missense variant	-	NC_000003.12:g.184383132T>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly395Glu	rs1381332340	missense variant	-	NC_000003.12:g.184383134G>A	gnomAD
CHRD	Q9H2X0	p.Ile397Phe	rs143869009	missense variant	-	NC_000003.12:g.184383139A>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ile397Leu	rs143869009	missense variant	-	NC_000003.12:g.184383139A>C	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala398Ser	rs1437344348	missense variant	-	NC_000003.12:g.184383142G>T	gnomAD
CHRD	Q9H2X0	p.Lys401Asn	rs1375043020	missense variant	-	NC_000003.12:g.184383153G>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser402Thr	rs372119331	missense variant	-	NC_000003.12:g.184383155G>C	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser402Asn	rs372119331	missense variant	-	NC_000003.12:g.184383155G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp404Asn	rs1354158730	missense variant	-	NC_000003.12:g.184383160G>A	gnomAD
CHRD	Q9H2X0	p.Val405Ile	rs1287699865	missense variant	-	NC_000003.12:g.184383163G>A	gnomAD
CHRD	Q9H2X0	p.Gln407Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184383318A>T	NCI-TCGA
CHRD	Q9H2X0	p.Gln407Lys	rs1217526546	missense variant	-	NC_000003.12:g.184383317C>A	gnomAD
CHRD	Q9H2X0	p.Ser408Asn	rs781574421	missense variant	-	NC_000003.12:g.184383321G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser408Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184383321G>T	NCI-TCGA
CHRD	Q9H2X0	p.Ser408CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184383318_184383319AA>-	NCI-TCGA
CHRD	Q9H2X0	p.Leu410Ile	rs752212094	missense variant	-	NC_000003.12:g.184383326C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu410Phe	rs752212094	missense variant	-	NC_000003.12:g.184383326C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp414Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184383338G>A	NCI-TCGA
CHRD	Q9H2X0	p.Asp414His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184383338G>C	NCI-TCGA
CHRD	Q9H2X0	p.Thr421Met	rs770711370	missense variant	-	NC_000003.12:g.184383360C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Ala423Ser	rs778615801	missense variant	-	NC_000003.12:g.184383365G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala423Gly	rs201415609	missense variant	-	NC_000003.12:g.184383366C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala423Pro	rs778615801	missense variant	-	NC_000003.12:g.184383365G>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly425Ser	rs1477043058	missense variant	-	NC_000003.12:g.184383371G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala427Gly	rs1172244440	missense variant	-	NC_000003.12:g.184383378C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala427Thr	rs1304687509	missense variant	-	NC_000003.12:g.184383377G>A	TOPMed
CHRD	Q9H2X0	p.Ser428Arg	rs989095135	missense variant	-	NC_000003.12:g.184383382C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr430Met	rs915508670	missense variant	-	NC_000003.12:g.184383387C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr430Arg	rs915508670	missense variant	-	NC_000003.12:g.184383387C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly433Arg	rs1215757816	missense variant	-	NC_000003.12:g.184383395G>A	gnomAD
CHRD	Q9H2X0	p.Asn434Ile	rs769821756	missense variant	-	NC_000003.12:g.184383399A>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Asn434Ser	rs769821756	missense variant	-	NC_000003.12:g.184383399A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly435Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184383401G>C	NCI-TCGA
CHRD	Q9H2X0	p.Ser436Tyr	rs906658508	missense variant	-	NC_000003.12:g.184383405C>A	TOPMed
CHRD	Q9H2X0	p.Tyr439His	rs1278699888	missense variant	-	NC_000003.12:g.184383413T>C	gnomAD
CHRD	Q9H2X0	p.Gln440His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184383418G>T	NCI-TCGA
CHRD	Q9H2X0	p.Val441Leu	rs767828888	missense variant	-	NC_000003.12:g.184383523G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr446Ala	rs776064875	missense variant	-	NC_000003.12:g.184383538A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Val450Leu	rs973190059	missense variant	-	NC_000003.12:g.184383550G>T	TOPMed
CHRD	Q9H2X0	p.Val451Ala	rs761024701	missense variant	-	NC_000003.12:g.184383554T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Met453Ile	rs753299715	missense variant	-	NC_000003.12:g.184383561G>A	ExAC,TOPMed
CHRD	Q9H2X0	p.Met453Ile	rs753299715	missense variant	-	NC_000003.12:g.184383561G>C	ExAC,TOPMed
CHRD	Q9H2X0	p.Met453Val	rs764678749	missense variant	-	NC_000003.12:g.184383559A>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Met453Arg	rs1268131949	missense variant	-	NC_000003.12:g.184383560T>G	gnomAD
CHRD	Q9H2X0	p.Thr454Pro	rs1015500603	missense variant	-	NC_000003.12:g.184383562A>C	gnomAD
CHRD	Q9H2X0	p.Thr454Ala	rs1015500603	missense variant	-	NC_000003.12:g.184383562A>G	gnomAD
CHRD	Q9H2X0	p.Thr454Ile	rs756797400	missense variant	-	NC_000003.12:g.184383563C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr457Ala	rs758207218	missense variant	-	NC_000003.12:g.184383571A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr457Ser	rs145871696	missense variant	-	NC_000003.12:g.184383572C>G	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr457Ile	rs145871696	missense variant	-	NC_000003.12:g.184383572C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr457Ser	RCV000207411	missense variant	-	NC_000003.12:g.184383572C>G	ClinVar
CHRD	Q9H2X0	p.Lys458Asn	rs1162519675	missense variant	-	NC_000003.12:g.184383576G>C	gnomAD
CHRD	Q9H2X0	p.Lys458Gln	rs1456314749	missense variant	-	NC_000003.12:g.184383574A>C	gnomAD
CHRD	Q9H2X0	p.Gln460Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.184383580C>T	NCI-TCGA
CHRD	Q9H2X0	p.Arg461Gln	rs754820692	missense variant	-	NC_000003.12:g.184383584G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg461Trp	rs746833026	missense variant	-	NC_000003.12:g.184383583C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg465His	rs537327887	missense variant	-	NC_000003.12:g.184383596G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg465Cys	rs371620797	missense variant	-	NC_000003.12:g.184383595C>T	ESP,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg465Leu	rs537327887	missense variant	-	NC_000003.12:g.184383596G>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Cys469Tyr	rs1244717043	missense variant	-	NC_000003.12:g.184383608G>A	gnomAD
CHRD	Q9H2X0	p.Cys469Phe	rs1244717043	missense variant	-	NC_000003.12:g.184383608G>T	gnomAD
CHRD	Q9H2X0	p.His470Tyr	rs1266481362	missense variant	-	NC_000003.12:g.184383610C>T	gnomAD
CHRD	Q9H2X0	p.Met471Ile	rs1337087171	missense variant	-	NC_000003.12:g.184383615G>A	gnomAD
CHRD	Q9H2X0	p.Gly473Glu	rs989124574	missense variant	-	NC_000003.12:g.184383620G>A	TOPMed
CHRD	Q9H2X0	p.Leu474Pro	rs746147827	missense variant	-	NC_000003.12:g.184383623T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln475Ter	rs772347309	stop gained	-	NC_000003.12:g.184383625C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro476Ser	rs148262081	missense variant	-	NC_000003.12:g.184383628C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro476Leu	rs1252418026	missense variant	-	NC_000003.12:g.184383629C>T	gnomAD
CHRD	Q9H2X0	p.Gly477Arg	rs1295172047	missense variant	-	NC_000003.12:g.184383631G>A	TOPMed
CHRD	Q9H2X0	p.Gly478Val	rs978785218	missense variant	-	NC_000003.12:g.184383635G>T	TOPMed
CHRD	Q9H2X0	p.His479Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184383637C>T	NCI-TCGA
CHRD	Q9H2X0	p.Thr480Met	rs148110430	missense variant	-	NC_000003.12:g.184383641C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr480Lys	rs148110430	missense variant	-	NC_000003.12:g.184383641C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala481Val	rs1298049438	missense variant	-	NC_000003.12:g.184384538C>T	gnomAD
CHRD	Q9H2X0	p.Ala481Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184384537G>A	NCI-TCGA
CHRD	Q9H2X0	p.Val482Met	rs951413156	missense variant	-	NC_000003.12:g.184384540G>A	TOPMed
CHRD	Q9H2X0	p.Gly483Ala	COSM6097145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384544G>C	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Gly483Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184384544G>A	NCI-TCGA
CHRD	Q9H2X0	p.Gly483Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184384543G>A	NCI-TCGA
CHRD	Q9H2X0	p.Cys485Tyr	rs1299526982	missense variant	-	NC_000003.12:g.184384550G>A	gnomAD
CHRD	Q9H2X0	p.Pro486Leu	rs146324922	missense variant	-	NC_000003.12:g.184384553C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly489Ser	rs756063129	missense variant	-	NC_000003.12:g.184384561G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly489Asp	rs1214367058	missense variant	-	NC_000003.12:g.184384562G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly489Cys	rs756063129	missense variant	-	NC_000003.12:g.184384561G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Ala490Val	COSM3590786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384565C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Arg491Gln	rs750433253	missense variant	-	NC_000003.12:g.184384568G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg491Ter	rs1387599540	stop gained	-	NC_000003.12:g.184384567C>T	gnomAD
CHRD	Q9H2X0	p.Ala493Val	rs780123376	missense variant	-	NC_000003.12:g.184384574C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln498Glu	rs1418207623	missense variant	-	NC_000003.12:g.184384588C>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Asn499Ser	rs1158595403	missense variant	-	NC_000003.12:g.184384592A>G	gnomAD
CHRD	Q9H2X0	p.Glu500Gln	rs1473960737	missense variant	-	NC_000003.12:g.184384594G>C	TOPMed
CHRD	Q9H2X0	p.Leu501Phe	COSM4115791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384597C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Phe502Ser	rs748534317	missense variant	-	NC_000003.12:g.184384601T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Asn504His	rs762349111	missense variant	-	NC_000003.12:g.184384606A>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Val505Met	rs773870774	missense variant	-	NC_000003.12:g.184384609G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly506Asp	rs1285286664	missense variant	-	NC_000003.12:g.184384613G>A	gnomAD
CHRD	Q9H2X0	p.Asp509Asn	rs1217401511	missense variant	-	NC_000003.12:g.184384621G>A	gnomAD
CHRD	Q9H2X0	p.Asp509Glu	COSM5088310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384623C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Pro511Ala	rs767294717	missense variant	-	NC_000003.12:g.184384627C>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro511Arg	rs1487833549	missense variant	-	NC_000003.12:g.184384628C>G	gnomAD
CHRD	Q9H2X0	p.Asp512Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184384630G>T	NCI-TCGA
CHRD	Q9H2X0	p.Gly513Arg	rs760580943	missense variant	-	NC_000003.12:g.184384633G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Glu514Lys	rs1438278905	missense variant	-	NC_000003.12:g.184384636G>A	gnomAD
CHRD	Q9H2X0	p.Leu515Ile	rs1178377192	missense variant	-	NC_000003.12:g.184384639C>A	gnomAD
CHRD	Q9H2X0	p.Arg516Gln	rs763909455	missense variant	-	NC_000003.12:g.184384643G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly517Glu	rs753868589	missense variant	-	NC_000003.12:g.184384646G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val519Met	rs766411915	missense variant	-	NC_000003.12:g.184384651G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala520Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184384655C>A	NCI-TCGA
CHRD	Q9H2X0	p.Ala521Thr	rs1445395482	missense variant	-	NC_000003.12:g.184384657G>A	gnomAD
CHRD	Q9H2X0	p.Pro523Thr	rs755143908	missense variant	-	NC_000003.12:g.184384663C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Tyr524Ser	rs1444359270	missense variant	-	NC_000003.12:g.184384667A>C	gnomAD
CHRD	Q9H2X0	p.Tyr524His	rs201629871	missense variant	-	NC_000003.12:g.184384666T>C	ExAC,TOPMed
CHRD	Q9H2X0	p.Cys525Gly	rs748479275	missense variant	-	NC_000003.12:g.184384669T>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Cys525Arg	COSM5162852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184384669T>C	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Gly526Trp	rs756521621	missense variant	-	NC_000003.12:g.184384672G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Ala529Thr	rs749872823	missense variant	-	NC_000003.12:g.184384681G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala529Pro	rs749872823	missense variant	-	NC_000003.12:g.184384681G>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala529Val	rs150401834	missense variant	-	NC_000003.12:g.184384682C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala529Ser	rs749872823	missense variant	-	NC_000003.12:g.184384681G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg530Cys	rs773857037	missense variant	-	NC_000003.12:g.184384684C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg530His	rs745397410	missense variant	-	NC_000003.12:g.184384685G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg530Leu	rs745397410	missense variant	-	NC_000003.12:g.184384685G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.His531Leu	rs1233830051	missense variant	-	NC_000003.12:g.184384688A>T	gnomAD
CHRD	Q9H2X0	p.His531Arg	rs1233830051	missense variant	-	NC_000003.12:g.184384688A>G	gnomAD
CHRD	Q9H2X0	p.Thr533Lys	rs149507891	missense variant	-	NC_000003.12:g.184385018C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr533Met	rs149507891	missense variant	-	NC_000003.12:g.184385018C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val536Leu	rs138882380	missense variant	-	NC_000003.12:g.184385026G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val536Met	rs138882380	missense variant	-	NC_000003.12:g.184385026G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu538Pro	rs771761101	missense variant	-	NC_000003.12:g.184385033T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Ala539Thr	rs1176833823	missense variant	-	NC_000003.12:g.184385035G>A	gnomAD
CHRD	Q9H2X0	p.Ala541Gly	rs148633075	missense variant	-	NC_000003.12:g.184385042C>G	ESP,ExAC,gnomAD
CHRD	Q9H2X0	p.Leu542Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184385044C>G	NCI-TCGA
CHRD	Q9H2X0	p.Val543Ala	rs746591350	missense variant	-	NC_000003.12:g.184385048T>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu544Pro	rs1337816736	missense variant	-	NC_000003.12:g.184385051T>C	gnomAD
CHRD	Q9H2X0	p.Pro545Ser	rs200631006	missense variant	-	NC_000003.12:g.184385053C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro545His	rs1341000228	missense variant	-	NC_000003.12:g.184385054C>A	gnomAD
CHRD	Q9H2X0	p.Pro546His	rs761543822	missense variant	-	NC_000003.12:g.184385057C>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro546Ala	rs746296766	missense variant	-	NC_000003.12:g.184385056C>G	gnomAD
CHRD	Q9H2X0	p.Pro546Leu	rs761543822	missense variant	-	NC_000003.12:g.184385057C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro546Ser	rs746296766	missense variant	-	NC_000003.12:g.184385056C>T	gnomAD
CHRD	Q9H2X0	p.Pro546LeuPheSerTerUnk	COSM6039480	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184385053C>-	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ser549Asn	rs1488030307	missense variant	-	NC_000003.12:g.184385066G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala551Val	rs1233415690	missense variant	-	NC_000003.12:g.184385072C>T	TOPMed
CHRD	Q9H2X0	p.Gly553Trp	rs1163120685	missense variant	-	NC_000003.12:g.184385077G>T	gnomAD
CHRD	Q9H2X0	p.Gly553Val	COSM6097143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385078G>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.His554Tyr	rs1244119292	missense variant	-	NC_000003.12:g.184385080C>T	gnomAD
CHRD	Q9H2X0	p.Ala555Ser	rs376150409	missense variant	-	NC_000003.12:g.184385083G>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala555Thr	rs376150409	missense variant	-	NC_000003.12:g.184385083G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp560Asn	rs1447741434	missense variant	-	NC_000003.12:g.184385098G>A	TOPMed
CHRD	Q9H2X0	p.Asp560Val	rs1394255373	missense variant	-	NC_000003.12:g.184385099A>T	gnomAD
CHRD	Q9H2X0	p.Thr561Ala	rs752778668	missense variant	-	NC_000003.12:g.184385101A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Cys563Gly	COSM5156395	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385107T>G	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.His564Leu	rs1175464957	missense variant	-	NC_000003.12:g.184385111A>T	gnomAD
CHRD	Q9H2X0	p.Leu565Met	COSM5162854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385113C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Tyr567Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184385120A>G	NCI-TCGA
CHRD	Q9H2X0	p.Ala572Ser	rs372747842	missense variant	-	NC_000003.12:g.184385134G>T	ESP,TOPMed
CHRD	Q9H2X0	p.Leu574Ile	COSM1421379	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385140C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Gly575Cys	rs754194740	missense variant	-	NC_000003.12:g.184385143G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly576Ser	rs146218712	missense variant	-	NC_000003.12:g.184385146G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser577Leu	rs751035404	missense variant	-	NC_000003.12:g.184385150C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser577Pro	rs779544143	missense variant	-	NC_000003.12:g.184385149T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln579Lys	rs758975291	missense variant	-	NC_000003.12:g.184385155C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln579Pro	rs1463141891	missense variant	-	NC_000003.12:g.184385156A>C	TOPMed
CHRD	Q9H2X0	p.Thr581Ala	rs779649069	missense variant	-	NC_000003.12:g.184385161A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Val582Ile	rs1286442852	missense variant	-	NC_000003.12:g.184385164G>A	gnomAD
CHRD	Q9H2X0	p.Val582Leu	rs1286442852	missense variant	-	NC_000003.12:g.184385164G>C	gnomAD
CHRD	Q9H2X0	p.Thr583Ala	COSM5156397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385167A>G	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ala584Val	COSM279890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385171C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.His585Tyr	rs1415940407	missense variant	-	NC_000003.12:g.184385173C>T	TOPMed
CHRD	Q9H2X0	p.His585Arg	rs1193275945	missense variant	-	NC_000003.12:g.184385174A>G	gnomAD
CHRD	Q9H2X0	p.Leu586Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184385176C>T	NCI-TCGA
CHRD	Q9H2X0	p.Pro589Arg	rs1195233255	missense variant	-	NC_000003.12:g.184385186C>G	gnomAD
CHRD	Q9H2X0	p.Pro589Ala	rs780745807	missense variant	-	NC_000003.12:g.184385185C>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly591Arg	rs747953177	missense variant	-	NC_000003.12:g.184385191G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr592Met	rs199856196	missense variant	-	NC_000003.12:g.184385195C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro595Ser	rs762811411	missense variant	-	NC_000003.12:g.184385203C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg596Gln	rs142103641	missense variant	-	NC_000003.12:g.184385207G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg596Trp	rs267599715	missense variant	-	NC_000003.12:g.184385206C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg597Gln	rs1335484009	missense variant	-	NC_000003.12:g.184385210G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg597Trp	rs760703245	missense variant	-	NC_000003.12:g.184385209C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg597Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184385210G>T	NCI-TCGA
CHRD	Q9H2X0	p.Lys600Glu	rs201765271	missense variant	-	NC_000003.12:g.184385218A>G	1000Genomes,ExAC,gnomAD
CHRD	Q9H2X0	p.Gly601Glu	rs569396672	missense variant	-	NC_000003.12:g.184385222G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly601Ala	rs569396672	missense variant	-	NC_000003.12:g.184385222G>C	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser605Leu	COSM3774774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184385234C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Glu606Gln	rs750826630	missense variant	-	NC_000003.12:g.184385236G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Glu606Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184385238G>T	NCI-TCGA
CHRD	Q9H2X0	p.Gln608Pro	rs777435775	missense variant	-	NC_000003.12:g.184386050A>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln608His	rs34052076	missense variant	-	NC_000003.12:g.184386051G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly609Asp	rs1194813503	missense variant	-	NC_000003.12:g.184386053G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Val610Ala	rs1308291648	missense variant	-	NC_000003.12:g.184386056T>C	gnomAD
CHRD	Q9H2X0	p.Val610Met	rs1295192955	missense variant	-	NC_000003.12:g.184386055G>A	gnomAD
CHRD	Q9H2X0	p.Val611Met	rs778900913	missense variant	-	NC_000003.12:g.184386058G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp613Ala	rs745863714	missense variant	-	NC_000003.12:g.184386065A>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu614Arg	COSM479799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386068T>G	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Glu615Ter	rs1423293740	stop gained	-	NC_000003.12:g.184386070G>T	gnomAD
CHRD	Q9H2X0	p.Pro616Leu	rs772056992	missense variant	-	NC_000003.12:g.184386074C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu618Met	rs748267517	missense variant	-	NC_000003.12:g.184386079C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg620Trp	rs773616640	missense variant	-	NC_000003.12:g.184386085C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg620Gln	rs376244825	missense variant	-	NC_000003.12:g.184386086G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.His621Tyr	rs766916662	missense variant	-	NC_000003.12:g.184386088C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly625Asp	rs759903035	missense variant	-	NC_000003.12:g.184386101G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly625Val	rs759903035	missense variant	-	NC_000003.12:g.184386101G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Met626Val	rs200407417	missense variant	-	NC_000003.12:g.184386103A>G	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Met626Thr	rs1414529177	missense variant	-	NC_000003.12:g.184386104T>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Met626Leu	rs200407417	missense variant	-	NC_000003.12:g.184386103A>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala627Thr	rs763717398	missense variant	-	NC_000003.12:g.184386106G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala627Val	rs753551642	missense variant	-	NC_000003.12:g.184386107C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala627Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184386106G>T	NCI-TCGA
CHRD	Q9H2X0	p.Ser628Phe	COSM3915480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386110C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ser628ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184386107C>-	NCI-TCGA
CHRD	Q9H2X0	p.Met630Leu	rs16858780	missense variant	-	NC_000003.12:g.184386115A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ile631Val	rs745692893	missense variant	-	NC_000003.12:g.184386118A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr632Ile	rs758226724	missense variant	-	NC_000003.12:g.184386122C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr632Ser	rs758226724	missense variant	-	NC_000003.12:g.184386122C>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr633Ile	rs201020244	missense variant	-	NC_000003.12:g.184386125C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly635Asp	rs1358857281	missense variant	-	NC_000003.12:g.184386131G>A	TOPMed
CHRD	Q9H2X0	p.Ser636Arg	rs368003114	missense variant	-	NC_000003.12:g.184386135C>G	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly639Glu	rs749454000	missense variant	-	NC_000003.12:g.184386143G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu640Val	rs1250706317	missense variant	-	NC_000003.12:g.184386146A>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg642Gln	rs771198668	missense variant	-	NC_000003.12:g.184386152G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg642Ter	rs1454136648	stop gained	-	NC_000003.12:g.184386151C>T	gnomAD
CHRD	Q9H2X0	p.Gly643Ala	rs1399474409	missense variant	-	NC_000003.12:g.184386155G>C	gnomAD
CHRD	Q9H2X0	p.Gly643Arg	rs1397511453	missense variant	-	NC_000003.12:g.184386154G>A	gnomAD
CHRD	Q9H2X0	p.Gln644Arg	rs1216587793	missense variant	-	NC_000003.12:g.184386158A>G	gnomAD
CHRD	Q9H2X0	p.His646Leu	rs1333456667	missense variant	-	NC_000003.12:g.184386496A>T	gnomAD
CHRD	Q9H2X0	p.His646Asn	COSM1421383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386495C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ile647Lys	rs1274622968	missense variant	-	NC_000003.12:g.184386499T>A	gnomAD
CHRD	Q9H2X0	p.Ile647Leu	rs754971176	missense variant	-	NC_000003.12:g.184386498A>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln650Lys	rs1420992692	missense variant	-	NC_000003.12:g.184386507C>A	gnomAD
CHRD	Q9H2X0	p.Cys651Tyr	rs557843970	missense variant	-	NC_000003.12:g.184386511G>A	1000Genomes
CHRD	Q9H2X0	p.Cys651Arg	rs777941782	missense variant	-	NC_000003.12:g.184386510T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Glu652Lys	rs749402951	missense variant	-	NC_000003.12:g.184386513G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly654Ser	rs771020442	missense variant	-	NC_000003.12:g.184386519G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly655Ter	rs377545047	stop gained	-	NC_000003.12:g.184386522G>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly655Arg	rs377545047	missense variant	-	NC_000003.12:g.184386522G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu656Pro	rs772547355	missense variant	-	NC_000003.12:g.184386526T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg657His	rs1167407707	missense variant	-	NC_000003.12:g.184386529G>A	gnomAD
CHRD	Q9H2X0	p.Arg657Cys	rs1475546928	missense variant	-	NC_000003.12:g.184386528C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg657Leu	rs1167407707	missense variant	-	NC_000003.12:g.184386529G>T	gnomAD
CHRD	Q9H2X0	p.Leu658Met	rs1417593952	missense variant	-	NC_000003.12:g.184386531C>A	gnomAD
CHRD	Q9H2X0	p.Ala660Val	rs572817129	missense variant	-	NC_000003.12:g.184386538C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly662Arg	rs561646793	missense variant	-	NC_000003.12:g.184386543G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly662Ala	rs1310946023	missense variant	-	NC_000003.12:g.184386544G>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly662Arg	rs561646793	missense variant	-	NC_000003.12:g.184386543G>C	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly662Glu	rs1310946023	missense variant	-	NC_000003.12:g.184386544G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu664Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184386551G>T	NCI-TCGA
CHRD	Q9H2X0	p.Glu664Lys	rs762650946	missense variant	-	NC_000003.12:g.184386549G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Val666Leu	rs1337027571	missense variant	-	NC_000003.12:g.184386555G>T	gnomAD
CHRD	Q9H2X0	p.Val666Gly	rs766129822	missense variant	-	NC_000003.12:g.184386556T>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val666Met	rs1337027571	missense variant	-	NC_000003.12:g.184386555G>A	gnomAD
CHRD	Q9H2X0	p.Val666Ala	rs766129822	missense variant	-	NC_000003.12:g.184386556T>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg667Leu	rs754915047	missense variant	-	NC_000003.12:g.184386559G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg667Pro	rs754915047	missense variant	-	NC_000003.12:g.184386559G>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg667Trp	rs902240288	missense variant	-	NC_000003.12:g.184386558C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg667Gln	rs754915047	missense variant	-	NC_000003.12:g.184386559G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala668Val	rs767595082	missense variant	-	NC_000003.12:g.184386562C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala668Glu	rs767595082	missense variant	-	NC_000003.12:g.184386562C>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala668Thr	rs1257380824	missense variant	-	NC_000003.12:g.184386561G>A	gnomAD
CHRD	Q9H2X0	p.Leu669Met	rs753939232	missense variant	-	NC_000003.12:g.184386564C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly670Glu	rs757409267	missense variant	-	NC_000003.12:g.184386568G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly670Trp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184386567G>T	NCI-TCGA
CHRD	Q9H2X0	p.Ala671Thr	rs1171735237	missense variant	-	NC_000003.12:g.184386570G>A	gnomAD
CHRD	Q9H2X0	p.Ala671Asp	rs1374752444	missense variant	-	NC_000003.12:g.184386571C>A	gnomAD
CHRD	Q9H2X0	p.Pro672Leu	rs746170996	missense variant	-	NC_000003.12:g.184386574C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro672Ser	rs778992422	missense variant	-	NC_000003.12:g.184386573C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp673His	rs1007513919	missense variant	-	NC_000003.12:g.184386576G>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr674Ile	rs1367831359	missense variant	-	NC_000003.12:g.184386580C>T	gnomAD
CHRD	Q9H2X0	p.Ala675Val	rs780342230	missense variant	-	NC_000003.12:g.184386583C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala678Val	rs769116532	missense variant	-	NC_000003.12:g.184386592C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala678Glu	rs769116532	missense variant	-	NC_000003.12:g.184386592C>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro679Gln	rs199810958	missense variant	-	NC_000003.12:g.184386595C>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro679Leu	rs199810958	missense variant	-	NC_000003.12:g.184386595C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro679Thr	rs199806371	missense variant	-	NC_000003.12:g.184386594C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro680Ser	rs1244033201	missense variant	-	NC_000003.12:g.184386597C>T	gnomAD
CHRD	Q9H2X0	p.Val682Ala	rs762607770	missense variant	-	NC_000003.12:g.184386604T>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val682Met	rs371051902	missense variant	-	NC_000003.12:g.184386603G>A	gnomAD
CHRD	Q9H2X0	p.Pro683Ser	rs563125930	missense variant	-	NC_000003.12:g.184386606C>T	1000Genomes,ExAC,gnomAD
CHRD	Q9H2X0	p.Gly684Ser	rs1454659833	missense variant	-	NC_000003.12:g.184386609G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly684Val	rs749962652	missense variant	-	NC_000003.12:g.184386610G>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro686Ser	rs1391127622	missense variant	-	NC_000003.12:g.184386615C>T	gnomAD
CHRD	Q9H2X0	p.Pro686Leu	rs1382169691	missense variant	-	NC_000003.12:g.184386616C>T	gnomAD
CHRD	Q9H2X0	p.Ala687Val	rs759444394	missense variant	-	NC_000003.12:g.184386619C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Ala687Ser	rs774248268	missense variant	-	NC_000003.12:g.184386618G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala689Gly	rs372203346	missense variant	-	NC_000003.12:g.184386625C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala689Val	rs372203346	missense variant	-	NC_000003.12:g.184386625C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala691Thr	rs758602549	missense variant	-	NC_000003.12:g.184386630G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala691Gly	rs780291031	missense variant	-	NC_000003.12:g.184386631C>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro693Ser	rs747350106	missense variant	-	NC_000003.12:g.184386636C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly694Arg	rs755391438	missense variant	-	NC_000003.12:g.184386639G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly694Ser	rs755391438	missense variant	-	NC_000003.12:g.184386639G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly694Asp	rs1467309193	missense variant	-	NC_000003.12:g.184386640G>A	gnomAD
CHRD	Q9H2X0	p.Gly695Val	rs979023175	missense variant	-	NC_000003.12:g.184386643G>T	gnomAD
CHRD	Q9H2X0	p.Gly695Cys	rs1213227869	missense variant	-	NC_000003.12:g.184386642G>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly695Ser	rs1213227869	missense variant	-	NC_000003.12:g.184386642G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro696Ser	rs781661018	missense variant	-	NC_000003.12:g.184386645C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly697Ala	rs1384738935	missense variant	-	NC_000003.12:g.184386649G>C	TOPMed
CHRD	Q9H2X0	p.Arg698Trp	rs1361960633	missense variant	-	NC_000003.12:g.184386651C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg698Gln	rs201859048	missense variant	-	NC_000003.12:g.184386652G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg698Leu	rs201859048	missense variant	-	NC_000003.12:g.184386652G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg700Gln	rs748780200	missense variant	-	NC_000003.12:g.184386658G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg700Ter	COSM5471702	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184386657C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Asp701Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184386660G>T	NCI-TCGA
CHRD	Q9H2X0	p.Pro702Thr	rs1308669126	missense variant	-	NC_000003.12:g.184386663C>A	gnomAD
CHRD	Q9H2X0	p.Pro702Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184386664C>T	NCI-TCGA
CHRD	Q9H2X0	p.Phe706Leu	rs1018741540	missense variant	-	NC_000003.12:g.184386675T>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Phe706Leu	rs1239943558	missense variant	-	NC_000003.12:g.184386677C>G	gnomAD
CHRD	Q9H2X0	p.Phe707Leu	rs1196905774	missense variant	-	NC_000003.12:g.184386678T>C	TOPMed
CHRD	Q9H2X0	p.Glu708Gly	rs1182618909	missense variant	-	NC_000003.12:g.184386682A>G	TOPMed
CHRD	Q9H2X0	p.Glu708Lys	rs1332694953	missense variant	-	NC_000003.12:g.184386681G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly709Glu	COSM3590794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386685G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Arg712Cys	rs1274001228	missense variant	-	NC_000003.12:g.184386693C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg712His	rs201062199	missense variant	-	NC_000003.12:g.184386694G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro713Thr	rs1248400758	missense variant	-	NC_000003.12:g.184386696C>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly715Arg	rs760607038	missense variant	-	NC_000003.12:g.184386702G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg717His	rs139430266	missense variant	-	NC_000003.12:g.184386709G>A	ESP,ExAC,gnomAD
CHRD	Q9H2X0	p.Arg717Cys	rs1253356762	missense variant	-	NC_000003.12:g.184386708C>T	gnomAD
CHRD	Q9H2X0	p.Arg717Leu	rs139430266	missense variant	-	NC_000003.12:g.184386709G>T	ESP,ExAC,gnomAD
CHRD	Q9H2X0	p.Ala719Val	rs368217568	missense variant	-	NC_000003.12:g.184386715C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala719Glu	rs368217568	missense variant	-	NC_000003.12:g.184386715C>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp723Asn	rs751844021	missense variant	-	NC_000003.12:g.184386726G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp723Tyr	rs751844021	missense variant	-	NC_000003.12:g.184386726G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp723His	rs751844021	missense variant	-	NC_000003.12:g.184386726G>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro724Leu	rs781476129	missense variant	-	NC_000003.12:g.184386730C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro724Gln	rs781476129	missense variant	-	NC_000003.12:g.184386730C>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Cys726Tyr	rs1353675847	missense variant	-	NC_000003.12:g.184386736G>A	gnomAD
CHRD	Q9H2X0	p.Cys726Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184386735T>C	NCI-TCGA
CHRD	Q9H2X0	p.Leu728Val	rs756604395	missense variant	-	NC_000003.12:g.184386741C>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr730Ile	rs748809890	missense variant	-	NC_000003.12:g.184386748C>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr730Ala	rs778183265	missense variant	-	NC_000003.12:g.184386747A>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gln732Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184386754A>G	NCI-TCGA
CHRD	Q9H2X0	p.Arg734Ter	rs1177348589	stop gained	-	NC_000003.12:g.184386848C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg734Gln	COSM446107	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184386849G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Thr735Ser	rs746802637	missense variant	-	NC_000003.12:g.184386851A>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Thr735Met	rs1451687064	missense variant	-	NC_000003.12:g.184386852C>T	gnomAD
CHRD	Q9H2X0	p.Thr735Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184386851A>G	NCI-TCGA
CHRD	Q9H2X0	p.Val736Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184386854G>T	NCI-TCGA
CHRD	Q9H2X0	p.Cys738Arg	rs1027622642	missense variant	-	NC_000003.12:g.184386860T>C	TOPMed
CHRD	Q9H2X0	p.Pro740Arg	rs768399856	missense variant	-	NC_000003.12:g.184386867C>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro740Ser	rs1389646339	missense variant	-	NC_000003.12:g.184386866C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro740Leu	rs768399856	missense variant	-	NC_000003.12:g.184386867C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val741Ala	rs761679640	missense variant	-	NC_000003.12:g.184386870T>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val741Leu	rs1368444663	missense variant	-	NC_000003.12:g.184386869G>T	gnomAD
CHRD	Q9H2X0	p.Val742Leu	rs774373999	missense variant	-	NC_000003.12:g.184386872G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Val742Ala	rs1213007813	missense variant	-	NC_000003.12:g.184386873T>C	gnomAD
CHRD	Q9H2X0	p.Pro744Leu	rs142558131	missense variant	-	NC_000003.12:g.184386879C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro744Gln	rs142558131	missense variant	-	NC_000003.12:g.184386879C>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro745Ser	rs1210129784	missense variant	-	NC_000003.12:g.184386881C>T	gnomAD
CHRD	Q9H2X0	p.Pro745Arg	rs368225894	missense variant	-	NC_000003.12:g.184386882C>G	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro745Leu	rs368225894	missense variant	-	NC_000003.12:g.184386882C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro745Gln	rs368225894	missense variant	-	NC_000003.12:g.184386882C>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser747Thr	rs1358916771	missense variant	-	NC_000003.12:g.184386888G>C	TOPMed
CHRD	Q9H2X0	p.Pro749Ser	rs372143475	missense variant	-	NC_000003.12:g.184386893C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro751Leu	rs146476400	missense variant	-	NC_000003.12:g.184386900C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro751Arg	rs146476400	missense variant	-	NC_000003.12:g.184386900C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val752Gly	rs1314054966	missense variant	-	NC_000003.12:g.184386903T>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala754Gly	rs550464753	missense variant	-	NC_000003.12:g.184386909C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala754Pro	rs147905488	missense variant	-	NC_000003.12:g.184386908G>C	ESP,TOPMed
CHRD	Q9H2X0	p.Pro755Ser	rs754647903	missense variant	-	NC_000003.12:g.184386911C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp756Asn	rs978387329	missense variant	-	NC_000003.12:g.184386914G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gln757Ter	rs1319059954	stop gained	-	NC_000003.12:g.184386917C>T	gnomAD
CHRD	Q9H2X0	p.Pro760His	rs1369623177	missense variant	-	NC_000003.12:g.184386927C>A	gnomAD
CHRD	Q9H2X0	p.Pro760Leu	rs1369623177	missense variant	-	NC_000003.12:g.184386927C>T	gnomAD
CHRD	Q9H2X0	p.Val761Leu	rs934985144	missense variant	-	NC_000003.12:g.184386929G>C	TOPMed
CHRD	Q9H2X0	p.Pro763Leu	rs373962669	missense variant	-	NC_000003.12:g.184386936C>T	ESP,ExAC,gnomAD
CHRD	Q9H2X0	p.Glu764Lys	rs143678632	missense variant	-	NC_000003.12:g.184386938G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu764Asp	COSM1421385	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184387052G>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Asp767Gly	rs776940194	missense variant	-	NC_000003.12:g.184387060A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp767Val	rs776940194	missense variant	-	NC_000003.12:g.184387060A>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp770Gly	COSM1130287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184387069A>G	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Arg776Thr	rs1048098703	missense variant	-	NC_000003.12:g.184387087G>C	TOPMed
CHRD	Q9H2X0	p.Arg778Trp	rs763421267	missense variant	-	NC_000003.12:g.184387092C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg778Gln	rs780586996	missense variant	-	NC_000003.12:g.184387093G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly781Glu	COSM225184	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184387102G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Glu782Lys	rs1448331685	missense variant	-	NC_000003.12:g.184387104G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu782Asp	rs1394754032	missense variant	-	NC_000003.12:g.184387106G>T	gnomAD
CHRD	Q9H2X0	p.Cys784Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184387377G>T	NCI-TCGA
CHRD	Q9H2X0	p.Phe786Ser	rs1209537829	missense variant	-	NC_000003.12:g.184387383T>C	gnomAD
CHRD	Q9H2X0	p.Arg790Trp	rs768637567	missense variant	-	NC_000003.12:g.184387394C>T	TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg790Gln	rs771365613	missense variant	-	NC_000003.12:g.184387395G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg793Trp	rs758972693	missense variant	-	NC_000003.12:g.184387403C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg793Gln	rs199859929	missense variant	-	NC_000003.12:g.184387404G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala795Val	rs752188177	missense variant	-	NC_000003.12:g.184387410C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr797Met	rs763703209	missense variant	-	NC_000003.12:g.184387416C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg798Gln	rs147576679	missense variant	-	NC_000003.12:g.184387419G>A	1000Genomes,ExAC,gnomAD
CHRD	Q9H2X0	p.Arg798Trp	rs757024413	missense variant	-	NC_000003.12:g.184387418C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Trp799Ter	rs1439145501	stop gained	-	NC_000003.12:g.184387422G>A	gnomAD
CHRD	Q9H2X0	p.Trp799Ter	rs1277871699	stop gained	-	NC_000003.12:g.184387423G>A	gnomAD
CHRD	Q9H2X0	p.His800Arg	rs750444995	missense variant	-	NC_000003.12:g.184387425A>G	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.His800Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184387424C>T	NCI-TCGA
CHRD	Q9H2X0	p.Val802Ile	rs111921981	missense variant	-	NC_000003.12:g.184387430G>A	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro804Leu	rs1165920675	missense variant	-	NC_000003.12:g.184387437C>T	TOPMed
CHRD	Q9H2X0	p.Pro804Ser	rs1331011803	missense variant	-	NC_000003.12:g.184387436C>T	gnomAD
CHRD	Q9H2X0	p.Phe806LeuPheSerTerUnk	COSM1421387	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184387435_184387436insC	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Phe806LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184387436C>-	NCI-TCGA
CHRD	Q9H2X0	p.Gly807Asp	rs1266669692	missense variant	-	NC_000003.12:g.184387446G>A	gnomAD
CHRD	Q9H2X0	p.Leu808Phe	rs748210203	missense variant	-	NC_000003.12:g.184387450A>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Leu808Ile	rs867533246	missense variant	-	NC_000003.12:g.184387448T>A	gnomAD
CHRD	Q9H2X0	p.Ile809Ser	rs1385236075	missense variant	-	NC_000003.12:g.184387452T>G	TOPMed
CHRD	Q9H2X0	p.Ala812Thr	rs1249011690	missense variant	-	NC_000003.12:g.184387460G>A	gnomAD
CHRD	Q9H2X0	p.Thr815Ile	rs1430396371	missense variant	-	NC_000003.12:g.184387470C>T	TOPMed
CHRD	Q9H2X0	p.Cys816Tyr	rs1460257201	missense variant	-	NC_000003.12:g.184387473G>A	gnomAD
CHRD	Q9H2X0	p.Gly818Arg	rs1340886663	missense variant	-	NC_000003.12:g.184387931G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly818Arg	rs1340886663	missense variant	-	NC_000003.12:g.184387931G>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly818Glu	rs1246683634	missense variant	-	NC_000003.12:g.184387932G>A	gnomAD
CHRD	Q9H2X0	p.Gly818Trp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184387931G>T	NCI-TCGA
CHRD	Q9H2X0	p.Gly819Ala	rs752848515	missense variant	-	NC_000003.12:g.184387935G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly819Val	rs752848515	missense variant	-	NC_000003.12:g.184387935G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly819Ser	rs1349017676	missense variant	-	NC_000003.12:g.184387934G>A	TOPMed
CHRD	Q9H2X0	p.Thr820Ile	rs138569844	missense variant	-	NC_000003.12:g.184387938C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr820Ser	rs138569844	missense variant	-	NC_000003.12:g.184387938C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu822Gly	rs1385669538	missense variant	-	NC_000003.12:g.184387944A>G	TOPMed
CHRD	Q9H2X0	p.Glu822Asp	COSM271166	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184387945G>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Glu822Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.184387943G>T	NCI-TCGA
CHRD	Q9H2X0	p.Val823Glu	rs1296780028	missense variant	-	NC_000003.12:g.184387947T>A	gnomAD
CHRD	Q9H2X0	p.His824Tyr	rs1276186761	missense variant	-	NC_000003.12:g.184387949C>T	gnomAD
CHRD	Q9H2X0	p.His824Asp	rs1276186761	missense variant	-	NC_000003.12:g.184387949C>G	gnomAD
CHRD	Q9H2X0	p.Val828Leu	rs1481968249	missense variant	-	NC_000003.12:g.184387961G>T	gnomAD
CHRD	Q9H2X0	p.Val828Met	rs1481968249	missense variant	-	NC_000003.12:g.184387961G>A	gnomAD
CHRD	Q9H2X0	p.Pro831His	rs1359399284	missense variant	-	NC_000003.12:g.184387971C>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro831Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184387970C>T	NCI-TCGA
CHRD	Q9H2X0	p.Arg832Trp	rs757406910	missense variant	-	NC_000003.12:g.184387973C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg832Gln	rs569589731	missense variant	-	NC_000003.12:g.184387974G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala834Val	rs1389869381	missense variant	-	NC_000003.12:g.184387980C>T	gnomAD
CHRD	Q9H2X0	p.Cys835Ser	rs1382541634	missense variant	-	NC_000003.12:g.184387983G>C	TOPMed
CHRD	Q9H2X0	p.Pro838Leu	rs1170976903	missense variant	-	NC_000003.12:g.184387992C>T	gnomAD
CHRD	Q9H2X0	p.Val839Ala	rs1376026705	missense variant	-	NC_000003.12:g.184387995T>C	gnomAD
CHRD	Q9H2X0	p.Arg840Leu	rs772596758	missense variant	-	NC_000003.12:g.184387998G>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg840His	rs772596758	missense variant	-	NC_000003.12:g.184387998G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg840Pro	rs772596758	missense variant	-	NC_000003.12:g.184387998G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Val841Ala	rs1404596784	missense variant	-	NC_000003.12:g.184388001T>C	gnomAD
CHRD	Q9H2X0	p.Asn842Ser	rs768282928	missense variant	-	NC_000003.12:g.184388004A>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro843Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184388007C>T	NCI-TCGA
CHRD	Q9H2X0	p.Thr844Ser	rs949208267	missense variant	-	NC_000003.12:g.184388009A>T	TOPMed
CHRD	Q9H2X0	p.Asp845Asn	rs201955458	missense variant	-	NC_000003.12:g.184388012G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gln849Lys	rs764769637	missense variant	-	NC_000003.12:g.184388024C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln849His	rs1309985769	missense variant	-	NC_000003.12:g.184388026G>C	gnomAD
CHRD	Q9H2X0	p.Cys850Tyr	rs773174535	missense variant	-	NC_000003.12:g.184388028G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro851Ser	COSM730197	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388030C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Val852Leu	rs762788894	missense variant	-	NC_000003.12:g.184388033G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Val852Leu	rs762788894	missense variant	-	NC_000003.12:g.184388033G>C	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly853Arg	rs1192222231	missense variant	-	NC_000003.12:g.184388589G>C	gnomAD
CHRD	Q9H2X0	p.Ser854Leu	rs867362534	missense variant	-	NC_000003.12:g.184388593C>T	TOPMed
CHRD	Q9H2X0	p.Ala856Thr	rs1471634189	missense variant	-	NC_000003.12:g.184388598G>A	gnomAD
CHRD	Q9H2X0	p.Pro858His	COSM6164097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388605C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Gln859His	rs1161031065	missense variant	-	NC_000003.12:g.184388609G>C	gnomAD
CHRD	Q9H2X0	p.Gly861Ala	rs759567227	missense variant	-	NC_000003.12:g.184388614G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly861Glu	rs759567227	missense variant	-	NC_000003.12:g.184388614G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp862Gly	rs1378468933	missense variant	-	NC_000003.12:g.184388617A>G	TOPMed
CHRD	Q9H2X0	p.Asp862Glu	rs753981487	missense variant	-	NC_000003.12:g.184388618C>G	ExAC,gnomAD
CHRD	Q9H2X0	p.Asp862Glu	rs753981487	missense variant	-	NC_000003.12:g.184388618C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gln865Lys	rs1293997980	missense variant	-	NC_000003.12:g.184388625C>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gln865Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184388626A>G	NCI-TCGA
CHRD	Q9H2X0	p.Gly868Ala	rs370795270	missense variant	-	NC_000003.12:g.184388635G>C	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg870Gln	rs374891781	missense variant	-	NC_000003.12:g.184388641G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg870Trp	rs750573985	missense variant	-	NC_000003.12:g.184388640C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg870Leu	COSM6097135	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388641G>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Gly871Val	rs780450294	missense variant	-	NC_000003.12:g.184388644G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly871Asp	rs780450294	missense variant	-	NC_000003.12:g.184388644G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg873His	rs751893106	missense variant	-	NC_000003.12:g.184388650G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg873Cys	rs1229778326	missense variant	-	NC_000003.12:g.184388649C>T	gnomAD
CHRD	Q9H2X0	p.Arg873Ser	rs1229778326	missense variant	-	NC_000003.12:g.184388649C>A	gnomAD
CHRD	Q9H2X0	p.Ala875Pro	rs1321445988	missense variant	-	NC_000003.12:g.184388655G>C	gnomAD
CHRD	Q9H2X0	p.Pro880Ser	COSM3590801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388670C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Glu881Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184388673G>C	NCI-TCGA
CHRD	Q9H2X0	p.Ser882Asn	rs1482148978	missense variant	-	NC_000003.12:g.184388677G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gln883Ter	rs1361709660	stop gained	-	NC_000003.12:g.184388679C>T	TOPMed
CHRD	Q9H2X0	p.Val889Met	rs769119423	missense variant	-	NC_000003.12:g.184388697G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro890Leu	rs1180289633	missense variant	-	NC_000003.12:g.184388701C>T	gnomAD
CHRD	Q9H2X0	p.Pro891Thr	rs1422992323	missense variant	-	NC_000003.12:g.184388703C>A	gnomAD
CHRD	Q9H2X0	p.Glu894Lys	rs770684361	missense variant	-	NC_000003.12:g.184388712G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Met895Thr	rs1427339779	missense variant	-	NC_000003.12:g.184388716T>C	gnomAD
CHRD	Q9H2X0	p.Ile898Val	rs1327316128	missense variant	-	NC_000003.12:g.184388724A>G	TOPMed
CHRD	Q9H2X0	p.Cys900LeuPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184388731_184388737GCAGATG>-	NCI-TCGA
CHRD	Q9H2X0	p.Cys900SerPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.184388731G>-	NCI-TCGA
CHRD	Q9H2X0	p.Arg901Ile	COSM6164096	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388734G>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Arg901Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184388734G>A	NCI-TCGA
CHRD	Q9H2X0	p.Gly903Trp	rs774326071	missense variant	-	NC_000003.12:g.184388739G>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala904Thr	rs768554092	missense variant	-	NC_000003.12:g.184388893G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly905Arg	rs773313783	missense variant	-	NC_000003.12:g.184388896G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro907Leu	rs1463344508	missense variant	-	NC_000003.12:g.184388903C>T	gnomAD
CHRD	Q9H2X0	p.Arg911Gln	rs372347094	missense variant	-	NC_000003.12:g.184388915G>A	ESP,ExAC,gnomAD
CHRD	Q9H2X0	p.Arg911Trp	rs762973881	missense variant	-	NC_000003.12:g.184388914C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Asp912Glu	rs1170303333	missense variant	-	NC_000003.12:g.184388919T>G	gnomAD
CHRD	Q9H2X0	p.Ser915Ala	rs1423789540	missense variant	-	NC_000003.12:g.184388926T>G	TOPMed,gnomAD
CHRD	Q9H2X0	p.Ser915Pro	rs1423789540	missense variant	-	NC_000003.12:g.184388926T>C	TOPMed,gnomAD
CHRD	Q9H2X0	p.Leu916Pro	rs774371597	missense variant	-	NC_000003.12:g.184388930T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Pro917Ser	COSM1042082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388932C>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ser919Tyr	COSM1327672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184388939C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ser919Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184388938T>C	NCI-TCGA
CHRD	Q9H2X0	p.Gly921Asp	rs767829975	missense variant	-	NC_000003.12:g.184388945G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Ser922Leu	rs139248428	missense variant	-	NC_000003.12:g.184388948C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly923Glu	rs753420285	missense variant	-	NC_000003.12:g.184388951G>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Gly923Ala	rs753420285	missense variant	-	NC_000003.12:g.184388951G>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Glu925Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184388958G>T	NCI-TCGA
CHRD	Q9H2X0	p.Ser926Arg	rs1434850913	missense variant	-	NC_000003.12:g.184388961T>A	gnomAD
CHRD	Q9H2X0	p.Arg927Leu	rs200027250	missense variant	-	NC_000003.12:g.184388963G>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg927Gln	rs200027250	missense variant	-	NC_000003.12:g.184388963G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg927Ter	rs571279136	stop gained	-	NC_000003.12:g.184388962C>T	1000Genomes,ExAC,gnomAD
CHRD	Q9H2X0	p.Cys928Arg	rs745569564	missense variant	-	NC_000003.12:g.184388965T>C	ExAC,gnomAD
CHRD	Q9H2X0	p.Arg931Cys	rs1476663696	missense variant	-	NC_000003.12:g.184388974C>T	TOPMed
CHRD	Q9H2X0	p.Arg931His	rs758051783	missense variant	-	NC_000003.12:g.184388975G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr933Lys	rs779756651	missense variant	-	NC_000003.12:g.184388981C>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Thr933Met	rs779756651	missense variant	-	NC_000003.12:g.184388981C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg936Gln	rs776496708	missense variant	-	NC_000003.12:g.184388990G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg936Trp	rs768605437	missense variant	-	NC_000003.12:g.184388989C>T	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg937Gln	rs774476759	missense variant	-	NC_000003.12:g.184388993G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Arg937Trp	rs142339785	missense variant	-	NC_000003.12:g.184388992C>T	ESP,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Pro938Ser	rs202232030	missense variant	-	NC_000003.12:g.184388995C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Ala939Thr	rs748143889	missense variant	-	NC_000003.12:g.184389369G>A	ExAC,TOPMed,gnomAD
CHRD	Q9H2X0	p.Glu941Ter	COSM3695953	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.184389375G>T	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Glu941Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.184389377G>T	NCI-TCGA
CHRD	Q9H2X0	p.Arg943Lys	COSM3774776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184389382G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Asp945Asn	COSM3590802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184389387G>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Glu949Asp	COSM4834468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184389401G>C	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Lys950Ter	rs745919418	stop gained	-	NC_000003.12:g.184389402A>T	ExAC,gnomAD
CHRD	Q9H2X0	p.Ala952Asp	rs772205933	missense variant	-	NC_000003.12:g.184389409C>A	ExAC,gnomAD
CHRD	Q9H2X0	p.Glu953Lys	rs1447001552	missense variant	-	NC_000003.12:g.184389411G>A	TOPMed,gnomAD
CHRD	Q9H2X0	p.Gly954Ser	rs1167220187	missense variant	-	NC_000003.12:g.184389414G>A	gnomAD
CHRD	Q9H2X0	p.Ser955Tyr	COSM3590803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.184389418C>A	NCI-TCGA Cosmic
CHRD	Q9H2X0	p.Ter956Trp	rs949603102	stop lost	-	NC_000003.12:g.184389421A>G	gnomAD
CHRD	Q9H2X0	p.Ter956Gln	rs775723421	stop lost	-	NC_000003.12:g.184389420T>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser2Cys	rs1398551475	missense variant	-	NC_000020.11:g.46021769A>T	gnomAD
SLC12A5	Q9H2X9	p.Arg3His	rs1423123160	missense variant	-	NC_000020.11:g.46021773G>A	TOPMed
SLC12A5	Q9H2X9	p.Thr6Ala	rs914602539	missense variant	-	NC_000020.11:g.46021781A>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Leu10Arg	rs1232596805	missense variant	-	NC_000020.11:g.46021794T>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro11Arg	rs779070903	missense variant	-	NC_000020.11:g.46021797C>G	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro11Ser	rs1347395340	missense variant	-	NC_000020.11:g.46021796C>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro11Leu	rs779070903	missense variant	-	NC_000020.11:g.46021797C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro11Ala	rs1347395340	missense variant	-	NC_000020.11:g.46021796C>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro12Leu	rs1351713527	missense variant	-	NC_000020.11:g.46021800C>T	TOPMed
SLC12A5	Q9H2X9	p.Ala13ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46021795_46021796insC	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly14Arg	rs758646898	missense variant	-	NC_000020.11:g.46021805G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gly14Arg	rs758646898	missense variant	-	NC_000020.11:g.46021805G>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro15Ser	rs1432569987	missense variant	-	NC_000020.11:g.46021808C>T	gnomAD
SLC12A5	Q9H2X9	p.Ala16Thr	rs1196086840	missense variant	-	NC_000020.11:g.46021811G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ala16Ser	rs1196086840	missense variant	-	NC_000020.11:g.46021811G>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg17Gly	rs923751890	missense variant	-	NC_000020.11:g.46021814A>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ser18Thr	rs1434932008	missense variant	-	NC_000020.11:g.46021818G>C	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro19His	rs747293767	missense variant	-	NC_000020.11:g.46021821C>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp20Gly	rs569855366	missense variant	-	NC_000020.11:g.46021824A>G	1000Genomes
SLC12A5	Q9H2X9	p.Pro21Gln	rs1358271032	missense variant	-	NC_000020.11:g.46021827C>A	gnomAD
SLC12A5	Q9H2X9	p.Arg24His	rs777681627	missense variant	-	NC_000020.11:g.46021836G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg24Gly	rs1056105141	missense variant	-	NC_000020.11:g.46021835C>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg24Cys	rs1056105141	missense variant	-	NC_000020.11:g.46021835C>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg25Gln	rs555710024	missense variant	-	NC_000020.11:g.46021839G>A	1000Genomes,gnomAD
SLC12A5	Q9H2X9	p.Arg25Pro	rs555710024	missense variant	-	NC_000020.11:g.46021839G>C	1000Genomes,gnomAD
SLC12A5	Q9H2X9	p.Ser27Pro	rs1308749080	missense variant	-	NC_000020.11:g.46021844T>C	gnomAD
SLC12A5	Q9H2X9	p.Val28Phe	rs943776034	missense variant	-	NC_000020.11:g.46021847G>T	TOPMed
SLC12A5	Q9H2X9	p.Arg32His	rs1040806604	missense variant	-	NC_000020.11:g.46021860G>A	TOPMed
SLC12A5	Q9H2X9	p.His33Pro	rs1208047454	missense variant	-	NC_000020.11:g.46021863A>C	gnomAD
SLC12A5	Q9H2X9	p.Pro35Thr	rs995737900	missense variant	-	NC_000020.11:g.46021868C>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly36Val	rs1447779774	missense variant	-	NC_000020.11:g.46021872G>T	TOPMed
SLC12A5	Q9H2X9	p.Glu37Lys	rs1378078277	missense variant	-	NC_000020.11:g.46021874G>A	gnomAD
SLC12A5	Q9H2X9	p.Asp38Asn	rs773808264	missense variant	-	NC_000020.11:g.46021877G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Asp38Gly	rs1334333249	missense variant	-	NC_000020.11:g.46021878A>G	TOPMed
SLC12A5	Q9H2X9	p.Val39Ala	rs759067394	missense variant	-	NC_000020.11:g.46021881T>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val39Ile	rs951494703	missense variant	-	NC_000020.11:g.46021880G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val39Phe	rs951494703	missense variant	-	NC_000020.11:g.46021880G>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val39Asp	rs759067394	missense variant	-	NC_000020.11:g.46021881T>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Lys40Arg	rs1269925327	missense variant	-	NC_000020.11:g.46021884A>G	TOPMed
SLC12A5	Q9H2X9	p.Gly41Cys	rs1397360375	missense variant	-	NC_000020.11:g.46021886G>T	gnomAD
SLC12A5	Q9H2X9	p.Gly43Asp	rs1156589458	missense variant	-	NC_000020.11:g.46034954G>A	gnomAD
SLC12A5	Q9H2X9	p.Gly43Ser	COSM3547162	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034953G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asn44Thr	COSM1027401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034957A>C	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Glu47Lys	COSM3547163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034965G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ser48Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46034969G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Pro50Ala	rs371579421	missense variant	-	NC_000020.11:g.46034974C>G	ESP,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro50Ser	rs371579421	missense variant	-	NC_000020.11:g.46034974C>T	ESP,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Phe51Val	rs776814751	missense variant	-	NC_000020.11:g.46034977T>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ile52Leu	COSM1326705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034980A>C	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ser54Asn	COSM1027402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034987G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Thr55Ser	rs765735382	missense variant	-	NC_000020.11:g.46034990C>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp56Asn	rs534826231	missense variant	-	NC_000020.11:g.46034992G>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Asp56Gly	rs1256641220	missense variant	-	NC_000020.11:g.46034993A>G	TOPMed
SLC12A5	Q9H2X9	p.Glu58Gln	rs1375691617	missense variant	-	NC_000020.11:g.46034998G>C	gnomAD
SLC12A5	Q9H2X9	p.Glu58Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46034998G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu58Asp	COSM1027403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035000G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Lys59Asn	rs970629633	missense variant	-	NC_000020.11:g.46035003G>C	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Lys59Thr	rs1237589662	missense variant	-	NC_000020.11:g.46035002A>C	gnomAD
SLC12A5	Q9H2X9	p.Lys59Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035003G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly60Ala	rs997875786	missense variant	-	NC_000020.11:g.46035005G>C	TOPMed
SLC12A5	Q9H2X9	p.Lys61Asn	rs766307074	missense variant	-	NC_000020.11:g.46035009G>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu62Val	rs376521903	missense variant	-	NC_000020.11:g.46035011A>T	ESP,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Asp64Asn	rs866490815	missense variant	-	NC_000020.11:g.46035016G>A	TOPMed
SLC12A5	Q9H2X9	p.Asp64Tyr	rs866490815	missense variant	-	NC_000020.11:g.46035016G>T	TOPMed
SLC12A5	Q9H2X9	p.Asp64Glu	rs755114147	missense variant	-	NC_000020.11:g.46035018T>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gly65Asp	rs1281331190	missense variant	-	NC_000020.11:g.46035020G>A	TOPMed
SLC12A5	Q9H2X9	p.Lys66Asn	COSM3841166	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035024G>C	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Lys66Asn	COSM1027404	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035024G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ala69Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035031G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu73Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.46035404G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu73Lys	COSM3911472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035404G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro79His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035423C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Met80Ile	rs1376239329	missense variant	-	NC_000020.11:g.46035427G>A	TOPMed
SLC12A5	Q9H2X9	p.Ser86Gly	rs1253185557	missense variant	-	NC_000020.11:g.46035443A>G	gnomAD
SLC12A5	Q9H2X9	p.Ala89Ser	COSM6160123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035452G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asn90Ser	rs376057527	missense variant	-	NC_000020.11:g.46035456A>G	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Thr92Ile	COSM3547165	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035462C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asn93Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035464A>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Asn93Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035465A>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly97Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035477G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg99Met	rs1262361628	missense variant	-	NC_000020.11:g.46035483G>T	gnomAD
SLC12A5	Q9H2X9	p.Glu103Lys	rs999424731	missense variant	-	NC_000020.11:g.46035494G>A	TOPMed
SLC12A5	Q9H2X9	p.Glu103Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.46035494G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Asn107Asp	rs775553338	missense variant	-	NC_000020.11:g.46035506A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asn107Ser	rs760847747	missense variant	-	NC_000020.11:g.46035507A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu108Asp	rs1035057549	missense variant	-	NC_000020.11:g.46035511G>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu108Lys	COSM6160121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035509G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Gly109Ser	rs370812585	missense variant	-	NC_000020.11:g.46035512G>A	ESP,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gly110Glu	rs754112372	missense variant	-	NC_000020.11:g.46035516G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Lys112ArgPheSerTerUnkUnk	COSM3294234	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46035517A>-	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro114Gln	rs1436913904	missense variant	-	NC_000020.11:g.46035528C>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro114Leu	rs1436913904	missense variant	-	NC_000020.11:g.46035528C>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val115Ala	rs1384828234	missense variant	-	NC_000020.11:g.46035531T>C	gnomAD
SLC12A5	Q9H2X9	p.Gln116Pro	rs1352410757	missense variant	-	NC_000020.11:g.46035534A>C	TOPMed
SLC12A5	Q9H2X9	p.Gln116Leu	COSM6093508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035534A>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro118Leu	rs780511606	missense variant	-	NC_000020.11:g.46035781C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro118Leu	RCV000444362	missense variant	-	NC_000020.11:g.46035781C>T	ClinVar
SLC12A5	Q9H2X9	p.Arg119Cys	rs145700012	missense variant	-	NC_000020.11:g.46035783C>T	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg119His	rs756873079	missense variant	-	NC_000020.11:g.46035784G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly121Asp	rs1045930238	missense variant	-	NC_000020.11:g.46035790G>A	TOPMed
SLC12A5	Q9H2X9	p.Thr122Ile	rs1316729616	missense variant	-	NC_000020.11:g.46035793C>T	gnomAD
SLC12A5	Q9H2X9	p.Thr122Ser	rs1461441247	missense variant	-	NC_000020.11:g.46035792A>T	gnomAD
SLC12A5	Q9H2X9	p.Phe123Ile	rs1396711146	missense variant	-	NC_000020.11:g.46035795T>A	gnomAD
SLC12A5	Q9H2X9	p.Gly125Asp	rs1344934837	missense variant	-	NC_000020.11:g.46035802G>A	gnomAD
SLC12A5	Q9H2X9	p.Tyr127Ser	rs769936625	missense variant	-	NC_000020.11:g.46035808A>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro129Leu	COSM6160119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035814C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Gln132His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035824G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Val137Ile	rs760750912	missense variant	-	NC_000020.11:g.46035837G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Trp145GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46035859C>-	NCI-TCGA
SLC12A5	Q9H2X9	p.Val146Leu	rs764778167	missense variant	-	NC_000020.11:g.46035864G>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val147Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035867G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly148Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035871G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ile149Thr	rs758760799	missense variant	-	NC_000020.11:g.46035874T>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Met153Val	rs1177990487	missense variant	-	NC_000020.11:g.46035885A>G	TOPMed
SLC12A5	Q9H2X9	p.Cys157Tyr	rs377612895	missense variant	-	NC_000020.11:g.46035898G>A	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val159Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46035903G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ile161Phe	rs755477453	missense variant	-	NC_000020.11:g.46035909A>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ile161Met	rs781288039	missense variant	-	NC_000020.11:g.46035911C>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Cys162Ter	rs748195551	stop gained	-	NC_000020.11:g.46035914C>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Thr166Met	rs764963565	missense variant	-	NC_000020.11:g.46036742C>T	gnomAD
SLC12A5	Q9H2X9	p.Ala170Thr	rs1025149041	missense variant	-	NC_000020.11:g.46036753G>A	TOPMed
SLC12A5	Q9H2X9	p.Ser172Pro	COSM3547168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46036759T>C	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ser174Gly	rs1232510406	missense variant	-	NC_000020.11:g.46036765A>G	gnomAD
SLC12A5	Q9H2X9	p.Ser174Asn	rs1272343118	missense variant	-	NC_000020.11:g.46036766G>A	TOPMed
SLC12A5	Q9H2X9	p.Ala175Val	rs1443484042	missense variant	-	NC_000020.11:g.46036769C>T	gnomAD
SLC12A5	Q9H2X9	p.Ala177Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46036774G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ala177Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46036774G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr178Ala	COSM2156498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46036777A>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asn179Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46036781A>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Val181Phe	rs746779486	missense variant	-	NC_000020.11:g.46036786G>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro183Thr	COSM6160117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46036792C>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Tyr188Ter	COSM6160115	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46037268C>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Met190Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46037272A>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg193Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46037282G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Leu195Val	COSM4837846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037287C>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro197Ser	rs1215655976	missense variant	-	NC_000020.11:g.46037293C>T	gnomAD
SLC12A5	Q9H2X9	p.Phe199Leu	rs770465664	missense variant	-	NC_000020.11:g.46037301T>G	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly200Trp	COSM443925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037302G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Gly201Ser	rs917519292	missense variant	-	NC_000020.11:g.46037305G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly201Arg	rs917519292	missense variant	-	NC_000020.11:g.46037305G>C	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val203Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46037311G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Tyr208Asn	COSM4098959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037326T>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Leu209Val	rs767714693	missense variant	-	NC_000020.11:g.46037329C>G	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Leu209Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46037329C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly210Val	COSM724399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037333G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Thr212Ile	rs1415620488	missense variant	-	NC_000020.11:g.46037339C>T	gnomAD
SLC12A5	Q9H2X9	p.Ala214Val	RCV000761573	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46037345C>T	ClinVar
SLC12A5	Q9H2X9	p.Leu220Arg	rs1395317060	missense variant	-	NC_000020.11:g.46037363T>G	gnomAD
SLC12A5	Q9H2X9	p.Gly221Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46037366G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr222Ala	rs1180292621	missense variant	-	NC_000020.11:g.46037368A>G	gnomAD
SLC12A5	Q9H2X9	p.Ile223Val	rs1330496933	missense variant	-	NC_000020.11:g.46037371A>G	gnomAD
SLC12A5	Q9H2X9	p.Glu224Lys	rs868598822	missense variant	-	NC_000020.11:g.46037374G>A	-
SLC12A5	Q9H2X9	p.Leu226Met	COSM4754131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037380C>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro232Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46040386C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ala233Thr	rs140635575	missense variant	-	NC_000020.11:g.46040388G>A	ESP,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Met234Thr	rs1444731225	missense variant	-	NC_000020.11:g.46040392T>C	gnomAD
SLC12A5	Q9H2X9	p.Ala235Thr	rs1194765378	missense variant	-	NC_000020.11:g.46040394G>A	gnomAD
SLC12A5	Q9H2X9	p.Ala235Ser	rs1194765378	missense variant	-	NC_000020.11:g.46040394G>T	gnomAD
SLC12A5	Q9H2X9	p.Ile236Val	rs370495847	missense variant	-	NC_000020.11:g.46040397A>G	ESP,gnomAD
SLC12A5	Q9H2X9	p.Lys238Arg	rs1453486986	missense variant	-	NC_000020.11:g.46040404A>G	gnomAD
SLC12A5	Q9H2X9	p.Lys238Glu	COSM3799594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040403A>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Glu245Asp	rs1393595000	missense variant	-	NC_000020.11:g.46040426G>T	gnomAD
SLC12A5	Q9H2X9	p.Ala247Val	rs764620289	missense variant	-	NC_000020.11:g.46040431C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asn252Ser	COSM1412137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040446A>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Met253Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46040450G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg254His	rs1555863134	missense variant	-	NC_000020.11:g.46040452G>A	-
SLC12A5	Q9H2X9	p.Arg254His	RCV000522855	missense variant	-	NC_000020.11:g.46040452G>A	ClinVar
SLC12A5	Q9H2X9	p.Arg254His	RCV000687568	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46040452G>A	ClinVar
SLC12A5	Q9H2X9	p.Arg254Cys	COSM4726424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040451C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Val255Ile	rs1555863136	missense variant	-	NC_000020.11:g.46040454G>A	-
SLC12A5	Q9H2X9	p.Val255Ile	RCV000552492	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46040454G>A	ClinVar
SLC12A5	Q9H2X9	p.Tyr256Cys	rs777269119	missense variant	-	NC_000020.11:g.46040458A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gly257Ser	rs765343735	missense variant	-	NC_000020.11:g.46040460G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Cys259ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46040464_46040465insAGTCA	NCI-TCGA
SLC12A5	Q9H2X9	p.Cys259Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46040466T>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Val260Ter	RCV000652720	frameshift	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46040466_46040467TG[2]	ClinVar
SLC12A5	Q9H2X9	p.Thr262Ile	rs763034305	missense variant	-	NC_000020.11:g.46040476C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Met264Ile	rs766598411	missense variant	-	NC_000020.11:g.46040483G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ala265Val	COSM1225880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040485C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Lys273Asn	rs777601251	missense variant	-	NC_000020.11:g.46040510G>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val281Ile	rs915523015	missense variant	-	NC_000020.11:g.46040532G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ala292Ser	rs1365573127	missense variant	-	NC_000020.11:g.46040565G>T	TOPMed
SLC12A5	Q9H2X9	p.Ile293Val	rs753714930	missense variant	-	NC_000020.11:g.46040568A>G	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly296Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46040578G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Val297Phe	rs757191446	missense variant	-	NC_000020.11:g.46040580G>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Lys299Arg	rs778354058	missense variant	-	NC_000020.11:g.46040587A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp303Gly	rs1192039338	missense variant	-	NC_000020.11:g.46040599A>G	TOPMed
SLC12A5	Q9H2X9	p.Asp303Glu	rs779753942	missense variant	-	NC_000020.11:g.46040600C>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp303Tyr	COSM443926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040598G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro304Leu	rs1002921147	missense variant	-	NC_000020.11:g.46040602C>T	TOPMed
SLC12A5	Q9H2X9	p.Pro305Ala	rs1452331627	missense variant	-	NC_000020.11:g.46040604C>G	gnomAD
SLC12A5	Q9H2X9	p.Asn306Ser	rs1228721017	missense variant	-	NC_000020.11:g.46040608A>G	TOPMed
SLC12A5	Q9H2X9	p.Phe307Cys	RCV000530913	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46040611T>G	ClinVar
SLC12A5	Q9H2X9	p.Phe307Cys	rs1213597825	missense variant	-	NC_000020.11:g.46040611T>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Phe307Val	COSM1265673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040610T>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro308Leu	rs1389384303	missense variant	-	NC_000020.11:g.46040614C>T	gnomAD
SLC12A5	Q9H2X9	p.Pro308Ser	rs746699276	missense variant	-	NC_000020.11:g.46040613C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Leu311His	rs863225306	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46041337T>A	UniProt,dbSNP
SLC12A5	Q9H2X9	p.Leu311His	VAR_075078	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46041337T>A	UniProt
SLC12A5	Q9H2X9	p.Leu311His	rs863225306	missense variant	-	NC_000020.11:g.46041337T>A	-
SLC12A5	Q9H2X9	p.Leu311His	RCV000202151	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46041337T>A	ClinVar
SLC12A5	Q9H2X9	p.Leu311Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46041337T>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly313Ser	rs759713656	missense variant	-	NC_000020.11:g.46041342G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg315His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46041349G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr316Met	rs1249292839	missense variant	-	NC_000020.11:g.46041352C>T	gnomAD
SLC12A5	Q9H2X9	p.Leu317Met	rs761591986	missense variant	-	NC_000020.11:g.46041354C>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ser318Phe	COSM3547171	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041358C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Arg319Cys	rs750318221	missense variant	-	NC_000020.11:g.46041360C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg319His	rs114371269	missense variant	-	NC_000020.11:g.46041361G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly321Ala	rs1317503439	missense variant	-	NC_000020.11:g.46041367G>C	TOPMed
SLC12A5	Q9H2X9	p.Ala326Gly	rs751140061	missense variant	-	NC_000020.11:g.46041382C>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Leu328Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46041387C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Trp330Arg	rs1311335449	missense variant	-	NC_000020.11:g.46041393T>C	TOPMed
SLC12A5	Q9H2X9	p.Gly332Glu	rs1371576683	missense variant	-	NC_000020.11:g.46041400G>A	gnomAD
SLC12A5	Q9H2X9	p.Gly332Arg	COSM3547172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041399G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asn333Ser	rs754580155	missense variant	-	NC_000020.11:g.46041403A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu334Gln	COSM3371703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041405G>C	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Thr335Met	rs780957586	missense variant	-	NC_000020.11:g.46041409C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val336Ala	rs966756478	missense variant	-	NC_000020.11:g.46041412T>C	TOPMed
SLC12A5	Q9H2X9	p.Val336Leu	rs138569099	missense variant	-	NC_000020.11:g.46041411G>T	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val336Met	rs138569099	missense variant	-	NC_000020.11:g.46041411G>A	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Thr337Ser	rs1379213711	missense variant	-	NC_000020.11:g.46041415C>G	gnomAD
SLC12A5	Q9H2X9	p.Thr337Ala	rs1346359518	missense variant	-	NC_000020.11:g.46041414A>G	TOPMed
SLC12A5	Q9H2X9	p.Thr338Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46041417A>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg339Trp	rs373725781	missense variant	-	NC_000020.11:g.46041420C>T	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg339Gln	rs144471748	missense variant	-	NC_000020.11:g.46041421G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Leu340Ile	rs775678070	missense variant	-	NC_000020.11:g.46041423C>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Trp341Ter	rs1259210706	stop gained	-	NC_000020.11:g.46041427G>A	TOPMed
SLC12A5	Q9H2X9	p.Trp341Ser	RCV000761574	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46041427G>C	ClinVar
SLC12A5	Q9H2X9	p.Gly342Asp	rs371544733	missense variant	-	NC_000020.11:g.46041430G>A	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly342Ser	rs765018314	missense variant	-	NC_000020.11:g.46041429G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Leu343Phe	rs916790849	missense variant	-	NC_000020.11:g.46041432C>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ser346Phe	rs1358479351	missense variant	-	NC_000020.11:g.46041442C>T	TOPMed
SLC12A5	Q9H2X9	p.Ser346Pro	RCV000761575	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46041441T>C	ClinVar
SLC12A5	Q9H2X9	p.Ser346Ala	rs1220094830	missense variant	-	NC_000020.11:g.46041441T>G	TOPMed
SLC12A5	Q9H2X9	p.Arg348Gly	rs766208736	missense variant	-	NC_000020.11:g.46041447C>G	ExAC
SLC12A5	Q9H2X9	p.Arg348His	rs751583991	missense variant	-	NC_000020.11:g.46041448G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Phe349Leu	COSM3547174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041450T>C	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asn351Ter	RCV000556073	frameshift	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46041454dup	ClinVar
SLC12A5	Q9H2X9	p.Ala352Ser	rs767192319	missense variant	-	NC_000020.11:g.46041459G>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ala352Thr	rs767192319	missense variant	-	NC_000020.11:g.46041459G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Thr353Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46041463C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu356Asp	rs752337511	missense variant	-	NC_000020.11:g.46041473A>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Thr359Ser	rs376919183	missense variant	-	NC_000020.11:g.46041481C>G	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Thr359Ala	rs778157213	missense variant	-	NC_000020.11:g.46041480A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Thr359Ala	RCV000426425	missense variant	-	NC_000020.11:g.46041480A>G	ClinVar
SLC12A5	Q9H2X9	p.Arg360Ter	rs1366907213	stop gained	-	NC_000020.11:g.46041483C>T	gnomAD
SLC12A5	Q9H2X9	p.Arg360Gln	rs779389047	missense variant	-	NC_000020.11:g.46041484G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asn361Lys	COSM4844114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041488C>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Val363Ile	rs772084547	missense variant	-	NC_000020.11:g.46041492G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu365Val	rs1313338780	missense variant	-	NC_000020.11:g.46041499A>T	gnomAD
SLC12A5	Q9H2X9	p.Ile366Thr	rs1269112718	missense variant	-	NC_000020.11:g.46041502T>C	gnomAD
SLC12A5	Q9H2X9	p.Gln367Arg	rs1215151629	missense variant	-	NC_000020.11:g.46041505A>G	gnomAD
SLC12A5	Q9H2X9	p.Gly368Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46041507G>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Pro370Leu	rs1164675047	missense variant	-	NC_000020.11:g.46041514C>T	TOPMed
SLC12A5	Q9H2X9	p.Ala373Ser	rs1189413482	missense variant	-	NC_000020.11:g.46041522G>T	gnomAD
SLC12A5	Q9H2X9	p.Ala373Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46041523C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu379Asp	COSM1027407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043154G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Leu381Val	rs200514600	missense variant	-	NC_000020.11:g.46043158C>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Leu381Phe	COSM3911476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043158C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Leu381Ile	COSM724396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043158C>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ser384Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043168C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Tyr385His	rs1202818249	missense variant	-	NC_000020.11:g.46043170T>C	gnomAD
SLC12A5	Q9H2X9	p.Thr387Ile	rs1254531482	missense variant	-	NC_000020.11:g.46043177C>T	TOPMed
SLC12A5	Q9H2X9	p.Val390Met	rs778801242	missense variant	-	NC_000020.11:g.46043185G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val390Met	RCV000652721	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043185G>A	ClinVar
SLC12A5	Q9H2X9	p.Arg394Ser	rs1366142794	missense variant	-	NC_000020.11:g.46043199G>C	gnomAD
SLC12A5	Q9H2X9	p.Arg394Trp	rs1258209252	missense variant	-	NC_000020.11:g.46043197A>T	TOPMed
SLC12A5	Q9H2X9	p.Ser395Ile	rs1473512159	missense variant	-	NC_000020.11:g.46043201G>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly396Arg	rs919297336	missense variant	-	NC_000020.11:g.46043203G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly396Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043204G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Met397Val	rs1455589492	missense variant	-	NC_000020.11:g.46043206A>G	gnomAD
SLC12A5	Q9H2X9	p.Thr398Asn	rs772033105	missense variant	-	NC_000020.11:g.46043210C>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser399Thr	rs1306640440	missense variant	-	NC_000020.11:g.46043212T>A	gnomAD
SLC12A5	Q9H2X9	p.Ser399Leu	RCV000761576	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043213C>T	ClinVar
SLC12A5	Q9H2X9	p.Val400Ala	rs1277804171	missense variant	-	NC_000020.11:g.46043216T>C	TOPMed
SLC12A5	Q9H2X9	p.Val400Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043215G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly401Asp	rs1410919515	missense variant	-	NC_000020.11:g.46043219G>A	gnomAD
SLC12A5	Q9H2X9	p.Leu402Met	COSM6093506	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043221C>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asp404Asn	rs776238585	missense variant	-	NC_000020.11:g.46043227G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gly405Asp	rs761325361	missense variant	-	NC_000020.11:g.46043231G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gly405Cys	rs1450320682	missense variant	-	NC_000020.11:g.46043230G>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly405Ser	rs1450320682	missense variant	-	NC_000020.11:g.46043230G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Thr406Ile	rs201727005	missense variant	-	NC_000020.11:g.46043234C>T	1000Genomes,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro407Ala	rs16985442	missense variant	-	NC_000020.11:g.46043236C>G	UniProt,dbSNP
SLC12A5	Q9H2X9	p.Pro407Ala	VAR_027414	missense variant	-	NC_000020.11:g.46043236C>G	UniProt
SLC12A5	Q9H2X9	p.Pro407Ala	rs16985442	missense variant	-	NC_000020.11:g.46043236C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro407Ala	RCV000525792	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043236C>G	ClinVar
SLC12A5	Q9H2X9	p.Asp409Asn	rs200798560	missense variant	-	NC_000020.11:g.46043242G>A	1000Genomes,gnomAD
SLC12A5	Q9H2X9	p.Met410Ile	rs771205120	missense variant	-	NC_000020.11:g.46043247G>A	gnomAD
SLC12A5	Q9H2X9	p.Pro413Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043254C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Pro413Leu	COSM3547175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043255C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Tyr414Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043257T>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Asp418Ala	rs1187692079	missense variant	-	NC_000020.11:g.46043270A>C	gnomAD
SLC12A5	Q9H2X9	p.Thr420Ser	rs34058554	missense variant	-	NC_000020.11:g.46043275A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Thr420Ser	RCV000514761	missense variant	-	NC_000020.11:g.46043275A>T	ClinVar
SLC12A5	Q9H2X9	p.Phe423Val	COSM4098963	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043284T>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Leu426Pro	rs863225304	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46043294T>C	UniProt,dbSNP
SLC12A5	Q9H2X9	p.Leu426Pro	VAR_075079	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46043294T>C	UniProt
SLC12A5	Q9H2X9	p.Leu426Pro	rs863225304	missense variant	-	NC_000020.11:g.46043294T>C	-
SLC12A5	Q9H2X9	p.Leu426Pro	RCV000202258	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043294T>C	ClinVar
SLC12A5	Q9H2X9	p.Ile429Val	rs755510484	missense variant	-	NC_000020.11:g.46043302A>G	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ile429Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043303T>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Tyr430Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043306A>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Ser433Leu	COSM3799595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043315C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Met438Leu	rs368484023	missense variant	-	NC_000020.11:g.46043638A>T	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Met438Val	RCV000761577	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043638A>G	ClinVar
SLC12A5	Q9H2X9	p.Gly440Asp	rs1332625463	missense variant	-	NC_000020.11:g.46043645G>A	gnomAD
SLC12A5	Q9H2X9	p.Arg443His	rs757586510	missense variant	-	NC_000020.11:g.46043654G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg443Cys	rs1287686059	missense variant	-	NC_000020.11:g.46043653C>T	gnomAD
SLC12A5	Q9H2X9	p.Asp446His	rs779666593	missense variant	-	NC_000020.11:g.46043662G>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp446GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46043658_46043659insG	NCI-TCGA
SLC12A5	Q9H2X9	p.Asp446Glu	rs1467804129	missense variant	-	NC_000020.11:g.46043664C>G	gnomAD
SLC12A5	Q9H2X9	p.Leu447Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043666T>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg448Lys	rs1209600880	missense variant	-	NC_000020.11:g.46043669G>A	gnomAD
SLC12A5	Q9H2X9	p.Asp449Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043671G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ser453Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.46043684C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Pro455Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043689C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr456Ser	rs1435281366	missense variant	-	NC_000020.11:g.46043693C>G	gnomAD
SLC12A5	Q9H2X9	p.Thr456Ala	rs374850295	missense variant	-	NC_000020.11:g.46043692A>G	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ile459Val	rs140326431	missense variant	-	NC_000020.11:g.46043701A>G	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ile459Val	RCV000764243	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043701A>G	ClinVar
SLC12A5	Q9H2X9	p.Ile459Val	RCV000652719	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043701A>G	ClinVar
SLC12A5	Q9H2X9	p.Ala463Thr	rs769231047	missense variant	-	NC_000020.11:g.46043713G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ser466Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043723C>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Tyr469Ter	rs1314395763	stop gained	-	NC_000020.11:g.46043877C>A	gnomAD
SLC12A5	Q9H2X9	p.Val473Ile	rs745565201	missense variant	-	NC_000020.11:g.46043887G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val474Phe	rs1432551819	missense variant	-	NC_000020.11:g.46043890G>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val474Ala	rs1274295232	missense variant	-	NC_000020.11:g.46043891T>C	gnomAD
SLC12A5	Q9H2X9	p.Gly477Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043900G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ala478Thr	rs992510978	missense variant	-	NC_000020.11:g.46043902G>A	TOPMed
SLC12A5	Q9H2X9	p.Ala478Val	rs1340483692	missense variant	-	NC_000020.11:g.46043903C>T	gnomAD
SLC12A5	Q9H2X9	p.Cys479Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043906G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ile480Val	rs772414812	missense variant	-	NC_000020.11:g.46043908A>G	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu481Asp	rs145624716	missense variant	-	NC_000020.11:g.46043913G>C	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu481Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46043911G>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu481Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.46043911G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Val484Ile	rs201487205	missense variant	-	NC_000020.11:g.46043920G>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg486Trp	rs769265263	missense variant	-	NC_000020.11:g.46043926C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg486Gln	rs777320467	missense variant	-	NC_000020.11:g.46043927G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Asp487Gly	rs1281577456	missense variant	-	NC_000020.11:g.46043930A>G	TOPMed
SLC12A5	Q9H2X9	p.Phe489Leu	rs949875148	missense variant	-	NC_000020.11:g.46044967T>C	TOPMed
SLC12A5	Q9H2X9	p.Gly490Asp	rs763936269	missense variant	-	NC_000020.11:g.46044971G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu491Lys	rs564134718	missense variant	-	NC_000020.11:g.46044973G>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ala492Gly	rs1239117189	missense variant	-	NC_000020.11:g.46044977C>G	TOPMed
SLC12A5	Q9H2X9	p.Ala492Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46044976G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Val493Met	rs1271200264	missense variant	-	NC_000020.11:g.46044979G>A	gnomAD
SLC12A5	Q9H2X9	p.Val493Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46044980T>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Val498Met	rs1304092442	missense variant	-	NC_000020.11:g.46044994G>A	gnomAD
SLC12A5	Q9H2X9	p.Val499Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46044997G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr501Ile	rs1355787897	missense variant	-	NC_000020.11:g.46045004C>T	TOPMed
SLC12A5	Q9H2X9	p.Leu502Gln	rs746714162	missense variant	-	NC_000020.11:g.46045007T>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Leu502Val	COSM1483690	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045006C>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro505Gln	COSM6160109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045016C>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro507Ser	rs781690252	missense variant	-	NC_000020.11:g.46045021C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val509Ile	rs974661660	missense variant	-	NC_000020.11:g.46045027G>A	TOPMed
SLC12A5	Q9H2X9	p.Ile510Val	rs1487399141	missense variant	-	NC_000020.11:g.46045030A>G	gnomAD
SLC12A5	Q9H2X9	p.Gly513Arg	rs1048863834	missense variant	-	NC_000020.11:g.46045039G>A	-
SLC12A5	Q9H2X9	p.Thr518Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46045054A>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly520Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46045061G>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly520Glu	COSM4898433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045061G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Gly522Arg	COSM1736299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045066G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Thr527Met	rs770229415	missense variant	-	NC_000020.11:g.46045082C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ala529GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46045082_46045083insA	NCI-TCGA
SLC12A5	Q9H2X9	p.Pro530HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46045088C>-	NCI-TCGA
SLC12A5	Q9H2X9	p.Ala535Thr	COSM2152767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045105G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ser537Leu	rs771520319	missense variant	-	NC_000020.11:g.46045112C>T	TOPMed
SLC12A5	Q9H2X9	p.Gly540Ser	rs1434791362	missense variant	-	NC_000020.11:g.46045120G>A	gnomAD
SLC12A5	Q9H2X9	p.Pro543Ser	rs113818080	missense variant	-	NC_000020.11:g.46045129C>T	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Phe544Leu	rs1227847406	missense variant	-	NC_000020.11:g.46045132T>C	gnomAD
SLC12A5	Q9H2X9	p.Gln546Ter	rs1054451078	stop gained	-	NC_000020.11:g.46045138C>T	TOPMed
SLC12A5	Q9H2X9	p.His550Gln	rs923053406	missense variant	-	NC_000020.11:g.46045889T>A	gnomAD
SLC12A5	Q9H2X9	p.His550Arg	rs746040335	missense variant	-	NC_000020.11:g.46045888A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gly551Asp	RCV000202007	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46045891G>A	ClinVar
SLC12A5	Q9H2X9	p.Gly551Asp	rs863225305	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46045891G>A	UniProt,dbSNP
SLC12A5	Q9H2X9	p.Gly551Asp	VAR_075080	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46045891G>A	UniProt
SLC12A5	Q9H2X9	p.Gly551Asp	rs863225305	missense variant	-	NC_000020.11:g.46045891G>A	-
SLC12A5	Q9H2X9	p.Pro557Leu	rs775819796	missense variant	-	NC_000020.11:g.46045909C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Thr558Ser	rs1399306484	missense variant	-	NC_000020.11:g.46045912C>G	gnomAD
SLC12A5	Q9H2X9	p.Leu561Pro	rs1555865050	missense variant	-	NC_000020.11:g.46045921T>C	-
SLC12A5	Q9H2X9	p.Leu561Pro	RCV000555126	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46045921T>C	ClinVar
SLC12A5	Q9H2X9	p.Leu561Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46045920C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Leu562Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46045923C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Leu563Pro	rs149824011	missense variant	-	NC_000020.11:g.46045927T>C	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Cys566Ser	rs1338793254	missense variant	-	NC_000020.11:g.46045936G>C	gnomAD
SLC12A5	Q9H2X9	p.Ile567Leu	rs1454723831	missense variant	-	NC_000020.11:g.46045938A>C	gnomAD
SLC12A5	Q9H2X9	p.Glu569Gln	rs1364136088	missense variant	-	NC_000020.11:g.46045944G>C	gnomAD
SLC12A5	Q9H2X9	p.Glu569Lys	COSM3547179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045944G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ile570Thr	rs772962500	missense variant	-	NC_000020.11:g.46045948T>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gly571Asp	COSM4098964	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045951G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ile572Val	rs762984846	missense variant	-	NC_000020.11:g.46045953A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ile572Val	RCV000439914	missense variant	-	NC_000020.11:g.46045953A>G	ClinVar
SLC12A5	Q9H2X9	p.Ile574Met	rs765943403	missense variant	-	NC_000020.11:g.46045961T>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser576Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46045966C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Leu577Phe	rs1275810930	missense variant	-	NC_000020.11:g.46045968C>T	gnomAD
SLC12A5	Q9H2X9	p.Asp578Gly	COSM3405158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045972A>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asp578Glu	COSM6160107	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045973C>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Glu579Lys	rs755740712	missense variant	-	NC_000020.11:g.46045974G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser585Pro	rs756423194	missense variant	-	NC_000020.11:g.46045992T>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Met586Thr	rs1208355894	missense variant	-	NC_000020.11:g.46045996T>C	TOPMed
SLC12A5	Q9H2X9	p.Phe587Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46046339T>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Met590Ile	rs1326470163	missense variant	-	NC_000020.11:g.46046350G>A	gnomAD
SLC12A5	Q9H2X9	p.Cys591Ter	COSM1027413	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46046353C>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ala598Val	COSM6093499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46046373C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ala600Ser	rs947117488	missense variant	-	NC_000020.11:g.46046378G>T	TOPMed
SLC12A5	Q9H2X9	p.Val601Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46046382T>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr603Met	rs747155296	missense variant	-	NC_000020.11:g.46046388C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro608Leu	rs1332153467	missense variant	-	NC_000020.11:g.46046403C>T	TOPMed
SLC12A5	Q9H2X9	p.Asn609Lys	rs1325966760	missense variant	-	NC_000020.11:g.46046407C>A	TOPMed
SLC12A5	Q9H2X9	p.Asn609Ser	rs749064755	missense variant	-	NC_000020.11:g.46046406A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg613His	rs547326805	missense variant	-	NC_000020.11:g.46046418G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg613Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46046417C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg613Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46046417C>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg615Pro	rs368661669	missense variant	-	NC_000020.11:g.46046424G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg615Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46046424G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg615Gln	rs368661669	missense variant	-	NC_000020.11:g.46046424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg615Ter	COSM3547180	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46046423C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Tyr616Phe	rs776767470	missense variant	-	NC_000020.11:g.46046427A>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Leu621Phe	COSM3911479	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46047458C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Phe623Ser	rs1207256253	missense variant	-	NC_000020.11:g.46047465T>C	gnomAD
SLC12A5	Q9H2X9	p.Gly625Ser	rs376259780	missense variant	-	NC_000020.11:g.46047470G>A	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ser627Ile	rs1352219291	missense variant	-	NC_000020.11:g.46047477G>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Tyr639His	rs1313957849	missense variant	-	NC_000020.11:g.46047512T>C	gnomAD
SLC12A5	Q9H2X9	p.Tyr639Phe	rs752901926	missense variant	-	NC_000020.11:g.46047513A>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Tyr640Cys	rs1388235037	missense variant	-	NC_000020.11:g.46047516A>G	gnomAD
SLC12A5	Q9H2X9	p.Leu646Phe	rs1171068654	missense variant	-	NC_000020.11:g.46047533C>T	gnomAD
SLC12A5	Q9H2X9	p.Leu650Ile	rs750211714	missense variant	-	NC_000020.11:g.46047545C>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ile651Phe	rs145719580	missense variant	-	NC_000020.11:g.46047548A>T	ESP,TOPMed
SLC12A5	Q9H2X9	p.Ile651Met	COSM3799596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46047550C>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Lys653Glu	COSM1412140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46047554A>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Glu656Asp	rs984368300	missense variant	-	NC_000020.11:g.46047565G>C	TOPMed
SLC12A5	Q9H2X9	p.Glu656Ter	COSM6160103	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46047563G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Arg658His	rs746932137	missense variant	-	NC_000020.11:g.46047570G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg658Cys	rs780027679	missense variant	-	NC_000020.11:g.46047569C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg658Leu	rs746932137	missense variant	-	NC_000020.11:g.46047570G>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly659Arg	rs1049733281	missense variant	-	NC_000020.11:g.46047572G>A	TOPMed
SLC12A5	Q9H2X9	p.Glu661Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46047987G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu661Lys	COSM1307468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46047985G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asp666Asn	rs1489822655	missense variant	-	NC_000020.11:g.46048000G>A	gnomAD
SLC12A5	Q9H2X9	p.Gly667Glu	COSM3547182	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46048004G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Arg669Gln	rs1236646231	missense variant	-	NC_000020.11:g.46048010G>A	gnomAD
SLC12A5	Q9H2X9	p.Gly670Ser	rs1268922818	missense variant	-	NC_000020.11:g.46048012G>A	gnomAD
SLC12A5	Q9H2X9	p.Leu671Val	rs1156422515	missense variant	-	NC_000020.11:g.46048015C>G	gnomAD
SLC12A5	Q9H2X9	p.Ser672Pro	rs554559920	missense variant	-	NC_000020.11:g.46048018T>C	1000Genomes
SLC12A5	Q9H2X9	p.Leu673Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46048021C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Ala675Val	rs1555865828	missense variant	-	NC_000020.11:g.46048028C>T	-
SLC12A5	Q9H2X9	p.Ala675Val	RCV000652722	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46048028C>T	ClinVar
SLC12A5	Q9H2X9	p.Ala675Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46048027G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg677Leu	rs760824180	missense variant	-	NC_000020.11:g.46048034G>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg677Cys	rs200020521	missense variant	-	NC_000020.11:g.46048033C>T	1000Genomes,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg677His	rs760824180	missense variant	-	NC_000020.11:g.46048034G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg677Gly	COSM3799597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46048033C>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ala679Ser	rs1416786034	missense variant	-	NC_000020.11:g.46048039G>T	gnomAD
SLC12A5	Q9H2X9	p.Leu680SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46048040C>-	NCI-TCGA
SLC12A5	Q9H2X9	p.Leu680Phe	COSM3547183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46048042C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Leu681Phe	rs1305523437	missense variant	-	NC_000020.11:g.46048047A>C	gnomAD
SLC12A5	Q9H2X9	p.Arg682His	rs1346179009	missense variant	-	NC_000020.11:g.46048049G>A	gnomAD
SLC12A5	Q9H2X9	p.Arg682Cys	rs1173713421	missense variant	-	NC_000020.11:g.46048048C>T	gnomAD
SLC12A5	Q9H2X9	p.Leu683Gln	rs201966427	missense variant	-	NC_000020.11:g.46048052T>A	1000Genomes
SLC12A5	Q9H2X9	p.Gly686Glu	rs761971126	missense variant	-	NC_000020.11:g.46048061G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro687Thr	rs1288795186	missense variant	-	NC_000020.11:g.46048063C>A	gnomAD
SLC12A5	Q9H2X9	p.Pro687Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46048063C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Pro688Thr	rs1357044095	missense variant	-	NC_000020.11:g.46048066C>A	gnomAD
SLC12A5	Q9H2X9	p.Thr690Ile	rs767435084	missense variant	-	NC_000020.11:g.46048073C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Lys691Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46048077G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Pro695Leu	rs1337088161	missense variant	-	NC_000020.11:g.46049624C>T	gnomAD
SLC12A5	Q9H2X9	p.Gln696Glu	rs766589514	missense variant	-	NC_000020.11:g.46049626C>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gln696His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46049628G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Gln696Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46049627A>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Leu700Met	rs756040501	missense variant	-	NC_000020.11:g.46049638C>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg702Cys	rs1203908091	missense variant	-	NC_000020.11:g.46049644C>T	gnomAD
SLC12A5	Q9H2X9	p.Arg702Gly	rs1203908091	missense variant	-	NC_000020.11:g.46049644C>G	gnomAD
SLC12A5	Q9H2X9	p.Arg702His	rs763612651	missense variant	-	NC_000020.11:g.46049645G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Asp704Asn	rs753266125	missense variant	-	NC_000020.11:g.46049650G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gln705Lys	rs1244371557	missense variant	-	NC_000020.11:g.46049653C>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gln705Glu	rs1244371557	missense variant	-	NC_000020.11:g.46049653C>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Asp706Val	rs1475779092	missense variant	-	NC_000020.11:g.46049657A>T	gnomAD
SLC12A5	Q9H2X9	p.Asp706Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46049656G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Val710Met	rs1175869873	missense variant	-	NC_000020.11:g.46049668G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val710Leu	RCV000543346	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46049668G>T	ClinVar
SLC12A5	Q9H2X9	p.Val710Leu	rs1175869873	missense variant	-	NC_000020.11:g.46049668G>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.His711Tyr	rs1427307420	missense variant	-	NC_000020.11:g.46049671C>T	gnomAD
SLC12A5	Q9H2X9	p.Pro712Ser	rs756834398	missense variant	-	NC_000020.11:g.46049674C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Leu715Ile	rs745527673	missense variant	-	NC_000020.11:g.46049683C>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Leu715Phe	rs745527673	missense variant	-	NC_000020.11:g.46049683C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Leu717Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46049690T>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Gln720Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46049699A>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Leu721Met	rs1325111537	missense variant	-	NC_000020.11:g.46049701C>A	gnomAD
SLC12A5	Q9H2X9	p.Gly724Glu	rs1350367958	missense variant	-	NC_000020.11:g.46049711G>A	gnomAD
SLC12A5	Q9H2X9	p.Gly724Arg	rs192513365	missense variant	-	NC_000020.11:g.46049710G>A	1000Genomes
SLC12A5	Q9H2X9	p.Lys725Arg	rs1555866427	missense variant	-	NC_000020.11:g.46049714A>G	-
SLC12A5	Q9H2X9	p.Lys725Arg	RCV000658914	missense variant	-	NC_000020.11:g.46049714A>G	ClinVar
SLC12A5	Q9H2X9	p.Gly726Ser	rs867133542	missense variant	-	NC_000020.11:g.46049716G>A	-
SLC12A5	Q9H2X9	p.Val730Met	rs1199339536	missense variant	-	NC_000020.11:g.46049728G>A	gnomAD
SLC12A5	Q9H2X9	p.Leu734Phe	rs1481472580	missense variant	-	NC_000020.11:g.46049740C>T	gnomAD
SLC12A5	Q9H2X9	p.Glu735Val	COSM443928	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46049744A>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Gly736Asp	rs1363482191	missense variant	-	NC_000020.11:g.46049747G>A	gnomAD
SLC12A5	Q9H2X9	p.Phe738Leu	rs890647462	missense variant	-	NC_000020.11:g.46049752T>C	TOPMed
SLC12A5	Q9H2X9	p.Glu740Lys	COSM3547186	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46049758G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.His742Tyr	COSM3547187	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46049764C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro743Leu	rs1385406670	missense variant	-	NC_000020.11:g.46049768C>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ala745Val	rs1301239632	missense variant	-	NC_000020.11:g.46049774C>T	gnomAD
SLC12A5	Q9H2X9	p.Ala745Val	RCV000702491	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46049774C>T	ClinVar
SLC12A5	Q9H2X9	p.Gln746Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.46049776C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg747Trp	rs532191036	missense variant	-	NC_000020.11:g.46049779C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg747Gln	rs763907201	missense variant	-	NC_000020.11:g.46049780G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu749Gly	rs1333678805	missense variant	-	NC_000020.11:g.46049786A>G	gnomAD
SLC12A5	Q9H2X9	p.Glu750Lys	rs1240764984	missense variant	-	NC_000020.11:g.46049788G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu750Ala	rs1344762308	missense variant	-	NC_000020.11:g.46049789A>C	TOPMed
SLC12A5	Q9H2X9	p.Ile752Val	rs1479711008	missense variant	-	NC_000020.11:g.46051678A>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg754His	rs374372733	missense variant	-	NC_000020.11:g.46051685G>A	ESP,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg754Cys	rs1197752454	missense variant	-	NC_000020.11:g.46051684C>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu759Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46051701G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Lys760Arg	rs774596447	missense variant	-	NC_000020.11:g.46051703A>G	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val761Met	rs760385352	missense variant	-	NC_000020.11:g.46051705G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gly763Cys	rs202232858	missense variant	-	NC_000020.11:g.46051711G>T	1000Genomes
SLC12A5	Q9H2X9	p.Ile769Asn	rs768554953	missense variant	-	NC_000020.11:g.46051730T>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser771Phe	COSM1483691	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46051736C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Leu773Ser	rs1463117299	missense variant	-	NC_000020.11:g.46051742T>C	gnomAD
SLC12A5	Q9H2X9	p.Leu773Met	rs1370797692	missense variant	-	NC_000020.11:g.46051741T>A	gnomAD
SLC12A5	Q9H2X9	p.Arg774His	rs377709894	missense variant	-	NC_000020.11:g.46051745G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg774Cys	rs776365184	missense variant	-	NC_000020.11:g.46051744C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg774Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46051745G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly776Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46051751G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Val777Met	rs551572064	missense variant	-	NC_000020.11:g.46051753G>A	1000Genomes,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser778Thr	rs1396257443	missense variant	-	NC_000020.11:g.46051756T>A	TOPMed
SLC12A5	Q9H2X9	p.Gly785Val	rs1295554853	missense variant	-	NC_000020.11:g.46051778G>T	gnomAD
SLC12A5	Q9H2X9	p.Gly787Arg	rs1229791643	missense variant	-	NC_000020.11:g.46051783G>A	gnomAD
SLC12A5	Q9H2X9	p.Leu789Met	rs753106879	missense variant	-	NC_000020.11:g.46051789C>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Leu789CysPheSerTerUnkUnk	COSM1412143	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46051783G>-	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Gln790Arg	rs995997850	missense variant	-	NC_000020.11:g.46051793A>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gln790His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46051794G>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Asn792Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46051799A>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr793Ala	rs756640421	missense variant	-	NC_000020.11:g.46051801A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Thr793Ser	COSM1483692	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46051802C>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Arg800His	rs749336515	missense variant	-	NC_000020.11:g.46051823G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg800Cys	rs542397610	missense variant	-	NC_000020.11:g.46051822C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg800His	RCV000546989	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46051823G>A	ClinVar
SLC12A5	Q9H2X9	p.Arg803Cys	rs757395459	missense variant	-	NC_000020.11:g.46051831C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg803His	rs779096129	missense variant	-	NC_000020.11:g.46051832G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gln804His	NCI-TCGA novel	inframe deletion	-	NC_000020.11:g.46051835_46051843AGAAGGAAG>-	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg812Lys	rs1225311916	missense variant	-	NC_000020.11:g.46051859G>A	gnomAD
SLC12A5	Q9H2X9	p.Asn813Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46051862A>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Phe814Leu	rs776507788	missense variant	-	NC_000020.11:g.46051864T>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ile815Asn	rs769820337	missense variant	-	NC_000020.11:g.46051868T>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ile815Thr	rs769820337	missense variant	-	NC_000020.11:g.46051868T>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ile815Leu	rs747941938	missense variant	-	NC_000020.11:g.46051867A>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg819Gln	rs1365579102	missense variant	-	NC_000020.11:g.46052966G>A	gnomAD
SLC12A5	Q9H2X9	p.Arg819Trp	rs773936706	missense variant	-	NC_000020.11:g.46052965C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Thr822Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46052974A>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly824Asp	rs1555867242	missense variant	-	NC_000020.11:g.46052981G>A	-
SLC12A5	Q9H2X9	p.Gly824Asp	RCV000652723	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46052981G>A	ClinVar
SLC12A5	Q9H2X9	p.Leu826Phe	rs1304975707	missense variant	-	NC_000020.11:g.46052988A>C	gnomAD
SLC12A5	Q9H2X9	p.Ala827Ser	rs1350546948	missense variant	-	NC_000020.11:g.46052989G>T	gnomAD
SLC12A5	Q9H2X9	p.Ala827Val	rs1349602272	missense variant	-	NC_000020.11:g.46052990C>T	gnomAD
SLC12A5	Q9H2X9	p.Leu829Met	rs1356162210	missense variant	-	NC_000020.11:g.46052995C>A	TOPMed
SLC12A5	Q9H2X9	p.Thr831Ile	rs1375212005	missense variant	-	NC_000020.11:g.46053002C>T	gnomAD
SLC12A5	Q9H2X9	p.Lys832Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053006G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Asn833Lys	rs540937956	missense variant	-	NC_000020.11:g.46053009C>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Asn833Asp	rs761015354	missense variant	-	NC_000020.11:g.46053007A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val834Ile	rs201152687	missense variant	-	NC_000020.11:g.46053010G>A	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ser835Ala	rs368264831	missense variant	-	NC_000020.11:g.46053013T>G	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Met836Ile	rs200191107	missense variant	-	NC_000020.11:g.46053018G>A	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Met836Thr	rs765710293	missense variant	-	NC_000020.11:g.46053017T>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Met836Ile	RCV000652724	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053018G>A	ClinVar
SLC12A5	Q9H2X9	p.Met836Ile	RCV000764244	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053018G>A	ClinVar
SLC12A5	Q9H2X9	p.Asn840Tyr	rs1163758563	missense variant	-	NC_000020.11:g.46053028A>T	TOPMed
SLC12A5	Q9H2X9	p.Asn840Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053030C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Pro841Thr	rs201268862	missense variant	-	NC_000020.11:g.46053031C>A	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro841Ala	RCV000764245	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053031C>G	ClinVar
SLC12A5	Q9H2X9	p.Pro841Ala	rs201268862	missense variant	-	NC_000020.11:g.46053031C>G	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Pro841Ala	RCV000551189	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053031C>G	ClinVar
SLC12A5	Q9H2X9	p.Glu842Val	rs142474258	missense variant	-	NC_000020.11:g.46053035A>T	ESP
SLC12A5	Q9H2X9	p.Glu842Lys	rs751841577	missense variant	-	NC_000020.11:g.46053034G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu842Gln	COSM3841168	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46053034G>C	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Arg843His	rs1179723675	missense variant	-	NC_000020.11:g.46053038G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg843Gly	rs755903894	missense variant	-	NC_000020.11:g.46053037C>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg843Cys	rs755903894	missense variant	-	NC_000020.11:g.46053037C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Phe844Cys	rs1385024131	missense variant	-	NC_000020.11:g.46053041T>G	gnomAD
SLC12A5	Q9H2X9	p.Glu846Lys	rs1443254780	missense variant	-	NC_000020.11:g.46053046G>A	gnomAD
SLC12A5	Q9H2X9	p.Gly847Asp	VAR_036557	Missense	-	-	UniProt
SLC12A5	Q9H2X9	p.Ser848Asn	rs777745429	missense variant	-	NC_000020.11:g.46053053G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ile849Val	rs749191975	missense variant	-	NC_000020.11:g.46053055A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp850Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053058G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Val851Ile	rs745380226	missense variant	-	NC_000020.11:g.46053061G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp857Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053079G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Met860Ile	rs1251560492	missense variant	-	NC_000020.11:g.46053090G>A	gnomAD
SLC12A5	Q9H2X9	p.Leu861Val	rs1284761457	missense variant	-	NC_000020.11:g.46053091C>G	gnomAD
SLC12A5	Q9H2X9	p.Met862Val	rs776957511	missense variant	-	NC_000020.11:g.46053094A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg869Gln	rs750945346	missense variant	-	NC_000020.11:g.46053116G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.His870Gln	rs1190180234	missense variant	-	NC_000020.11:g.46053120C>A	gnomAD
SLC12A5	Q9H2X9	p.His871Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053123C>G	NCI-TCGA
SLC12A5	Q9H2X9	p.His871Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053122A>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Lys872Glu	RCV000784929	missense variant	Epilepsy, idiopathic generalized, susceptibility to, 14 (EIG14)	NC_000020.11:g.46053124A>G	ClinVar
SLC12A5	Q9H2X9	p.Trp874Ter	rs1280953289	stop gained	-	NC_000020.11:g.46053582G>A	gnomAD
SLC12A5	Q9H2X9	p.Arg875Trp	rs1332402437	missense variant	-	NC_000020.11:g.46053584C>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg875Gln	rs757020460	missense variant	-	NC_000020.11:g.46053585G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Cys877Ser	rs1275771310	missense variant	-	NC_000020.11:g.46053591G>C	gnomAD
SLC12A5	Q9H2X9	p.Met879Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053597T>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Met879Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053598G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg880Cys	rs764947617	missense variant	-	NC_000020.11:g.46053599C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg880Leu	RCV000761579	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053600G>T	ClinVar
SLC12A5	Q9H2X9	p.Arg880His	rs750336750	missense variant	-	NC_000020.11:g.46053600G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Met887Thr	rs1288834040	missense variant	-	NC_000020.11:g.46053621T>C	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Met887Arg	rs1288834040	missense variant	-	NC_000020.11:g.46053621T>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Met887Ile	COSM1412145	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46053622G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asp888Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053623G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Asp889Asn	rs1354258077	missense variant	-	NC_000020.11:g.46053626G>A	TOPMed
SLC12A5	Q9H2X9	p.Asn890Asp	rs758245188	missense variant	-	NC_000020.11:g.46053629A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser891Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053633G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Gln893Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053638C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Met894Leu	rs1397645902	missense variant	-	NC_000020.11:g.46053641A>T	TOPMed
SLC12A5	Q9H2X9	p.Lys896Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053649G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Asp897Val	rs1359639444	missense variant	-	NC_000020.11:g.46053651A>T	TOPMed
SLC12A5	Q9H2X9	p.Asp897His	rs888977797	missense variant	-	NC_000020.11:g.46053650G>C	gnomAD
SLC12A5	Q9H2X9	p.Leu898Val	rs1288017411	missense variant	-	NC_000020.11:g.46053653C>G	TOPMed
SLC12A5	Q9H2X9	p.Leu902Val	COSM3799599	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46053665C>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Tyr903Cys	rs1270290272	missense variant	-	NC_000020.11:g.46053669A>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg906Cys	rs1161641127	missense variant	-	NC_000020.11:g.46053677C>T	TOPMed
SLC12A5	Q9H2X9	p.Arg906His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053678G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ile907Leu	rs754540247	missense variant	-	NC_000020.11:g.46053680A>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ile907Val	rs754540247	missense variant	-	NC_000020.11:g.46053680A>G	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ala909Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053687C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu910Asp	COSM1027418	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46053691G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Glu912Lys	rs565709821	missense variant	-	NC_000020.11:g.46053695G>A	1000Genomes,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu912Val	rs770152314	missense variant	-	NC_000020.11:g.46053696A>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val913Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46053699T>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Val914Glu	rs1300668156	missense variant	-	NC_000020.11:g.46053702T>A	gnomAD
SLC12A5	Q9H2X9	p.Met916Leu	rs773469879	missense variant	-	NC_000020.11:g.46053707A>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Met916Thr	rs200461513	missense variant	-	NC_000020.11:g.46053708T>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.His917Tyr	rs1200788623	missense variant	-	NC_000020.11:g.46054916C>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.His917Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46054917A>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu918Lys	rs755702599	missense variant	-	NC_000020.11:g.46054919G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser919Asn	COSM6093493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46054923G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asp920Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46054925G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ser922Leu	rs1181643809	missense variant	-	NC_000020.11:g.46054932C>T	gnomAD
SLC12A5	Q9H2X9	p.Thr925Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46054941C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr925Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46054941C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Tyr926His	rs1368465015	missense variant	-	NC_000020.11:g.46054943T>C	TOPMed
SLC12A5	Q9H2X9	p.Thr929Met	rs774769322	missense variant	-	NC_000020.11:g.46054953C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val931Met	rs775456354	missense variant	-	NC_000020.11:g.46054958G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Met932Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46054963G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu933Gly	rs760847273	missense variant	-	NC_000020.11:g.46054965A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg935Cys	rs1194110733	missense variant	-	NC_000020.11:g.46054970C>T	gnomAD
SLC12A5	Q9H2X9	p.Arg935His	rs764216462	missense variant	-	NC_000020.11:g.46054971G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg935Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46054971G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Ser936Phe	rs536513910	missense variant	-	NC_000020.11:g.46054974C>T	gnomAD
SLC12A5	Q9H2X9	p.Lys940ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46054984_46054987CAAA>-	NCI-TCGA
SLC12A5	Q9H2X9	p.Gln941His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46054990G>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Met942Val	rs776969305	missense variant	-	NC_000020.11:g.46054991A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg949Trp	rs370818838	missense variant	-	NC_000020.11:g.46055012C>T	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg949Leu	rs766162823	missense variant	-	NC_000020.11:g.46055013G>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg949Gln	rs766162823	missense variant	-	NC_000020.11:g.46055013G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg951Trp	rs751455156	missense variant	-	NC_000020.11:g.46055018C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg951Gln	rs759488728	missense variant	-	NC_000020.11:g.46055019G>A	ExAC,TOPMed
SLC12A5	Q9H2X9	p.Arg951Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46055018C>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Gln954His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46056155G>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr957Ile	rs759368216	missense variant	-	NC_000020.11:g.46056163C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp958Val	COSM478228	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056166A>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Glu959Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46056169A>C	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg961Gln	rs752739286	missense variant	-	NC_000020.11:g.46056175G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg961Gly	COSM1307469	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056174C>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Arg965Gln	rs760046175	missense variant	-	NC_000020.11:g.46056187G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg965Pro	rs760046175	missense variant	-	NC_000020.11:g.46056187G>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg965Trp	rs1267557723	missense variant	-	NC_000020.11:g.46056186C>T	gnomAD
SLC12A5	Q9H2X9	p.Lys967Thr	rs753504476	missense variant	-	NC_000020.11:g.46056193A>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Lys967Asn	rs1434156491	missense variant	-	NC_000020.11:g.46056194G>T	gnomAD
SLC12A5	Q9H2X9	p.Ala970Gly	rs199934904	missense variant	-	NC_000020.11:g.46056202C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ala970Gly	RCV000514358	missense variant	-	NC_000020.11:g.46056202C>G	ClinVar
SLC12A5	Q9H2X9	p.Ala970Gly	RCV000698700	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46056202C>G	ClinVar
SLC12A5	Q9H2X9	p.Ala970Val	COSM6093491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056202C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asn971Ile	rs750810382	missense variant	-	NC_000020.11:g.46056205A>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asn971Ser	COSM3547190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056205A>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Thr972Met	rs758888959	missense variant	-	NC_000020.11:g.46056208C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg973Trp	rs1254654686	missense variant	-	NC_000020.11:g.46056210C>T	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg973Gln	rs780363610	missense variant	-	NC_000020.11:g.46056211G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg975Ser	rs747552467	missense variant	-	NC_000020.11:g.46056216C>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg975His	rs142740233	missense variant	Epilepsy, idiopathic generalized 14 (EIG14)	NC_000020.11:g.46056217G>A	UniProt,dbSNP
SLC12A5	Q9H2X9	p.Arg975His	VAR_075081	missense variant	Epilepsy, idiopathic generalized 14 (EIG14)	NC_000020.11:g.46056217G>A	UniProt
SLC12A5	Q9H2X9	p.Arg975His	rs142740233	missense variant	-	NC_000020.11:g.46056217G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg975Leu	rs142740233	missense variant	-	NC_000020.11:g.46056217G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg975Cys	rs747552467	missense variant	-	NC_000020.11:g.46056216C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg975His	RCV000549689	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46056217G>A	ClinVar
SLC12A5	Q9H2X9	p.Asn977Lys	rs754601939	missense variant	-	NC_000020.11:g.46056224C>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Asn977Asp	rs781354583	missense variant	-	NC_000020.11:g.46056222A>G	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val978Ile	rs748274754	missense variant	-	NC_000020.11:g.46056225G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu980Lys	COSM1483693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056231G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Glu981Lys	rs1319450206	missense variant	-	NC_000020.11:g.46056234G>A	gnomAD
SLC12A5	Q9H2X9	p.Glu981Asp	rs1223270370	missense variant	-	NC_000020.11:g.46056236G>C	gnomAD
SLC12A5	Q9H2X9	p.Thr982Met	rs759314815	missense variant	-	NC_000020.11:g.46056238C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ala983Gly	rs775224780	missense variant	-	NC_000020.11:g.46056241C>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ala983Thr	COSM3911480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056240G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Gly984Ser	rs763466359	missense variant	-	NC_000020.11:g.46056243G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp985Gly	rs1284519025	missense variant	-	NC_000020.11:g.46056247A>G	TOPMed
SLC12A5	Q9H2X9	p.Ser986Gly	rs1407241957	missense variant	-	NC_000020.11:g.46056249A>G	TOPMed
SLC12A5	Q9H2X9	p.Glu987Lys	rs1159811344	missense variant	-	NC_000020.11:g.46056252G>A	gnomAD
SLC12A5	Q9H2X9	p.Glu988Lys	rs776262547	missense variant	-	NC_000020.11:g.46056255G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu988Gln	rs776262547	missense variant	-	NC_000020.11:g.46056255G>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Lys989Asn	rs761451070	missense variant	-	NC_000020.11:g.46056260G>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu991Lys	rs144258216	missense variant	-	NC_000020.11:g.46056264G>A	ESP,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu992Val	rs750111103	missense variant	-	NC_000020.11:g.46056268A>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu992Gly	rs750111103	missense variant	-	NC_000020.11:g.46056268A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val994Glu	COSM724391	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056366T>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.His998Gln	rs778476586	missense variant	-	NC_000020.11:g.46056379C>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Asp999His	rs765995687	missense variant	-	NC_000020.11:g.46056380G>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asp999Asn	rs765995687	missense variant	-	NC_000020.11:g.46056380G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Gln1000Pro	rs1284233610	missense variant	-	NC_000020.11:g.46056384A>C	gnomAD
SLC12A5	Q9H2X9	p.Ser1001Asn	rs1216388861	missense variant	-	NC_000020.11:g.46056387G>A	gnomAD
SLC12A5	Q9H2X9	p.Ser1001Asn	RCV000688334	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46056387G>A	ClinVar
SLC12A5	Q9H2X9	p.Ala1002Thr	rs751920054	missense variant	-	NC_000020.11:g.46056389G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro1003His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46056393C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ser1007Asn	rs1320444927	missense variant	-	NC_000020.11:g.46056405G>A	gnomAD
SLC12A5	Q9H2X9	p.Pro1010Leu	rs755363281	missense variant	-	NC_000020.11:g.46056414C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly1013Glu	rs1212881804	missense variant	-	NC_000020.11:g.46056423G>A	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu1015Gly	rs949397002	missense variant	-	NC_000020.11:g.46056429A>G	TOPMed
SLC12A5	Q9H2X9	p.Glu1015Lys	rs1455183939	missense variant	-	NC_000020.11:g.46056428G>A	TOPMed
SLC12A5	Q9H2X9	p.Pro1016Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46056431C>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Glu1017Gln	rs1046428000	missense variant	-	NC_000020.11:g.46056434G>C	TOPMed
SLC12A5	Q9H2X9	p.Gly1018Ala	rs376925159	missense variant	-	NC_000020.11:g.46056438G>C	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly1018Trp	rs1477557927	missense variant	-	NC_000020.11:g.46056437G>T	gnomAD
SLC12A5	Q9H2X9	p.Glu1019Lys	rs756121150	missense variant	-	NC_000020.11:g.46056440G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu1019LysPheSerTerUnkUnk	COSM1412147	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46056436G>-	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Glu1021Gln	rs749370059	missense variant	-	NC_000020.11:g.46056446G>C	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu1021Lys	rs749370059	missense variant	-	NC_000020.11:g.46056446G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Thr1022Arg	rs1366449247	missense variant	-	NC_000020.11:g.46056450C>G	TOPMed
SLC12A5	Q9H2X9	p.Pro1024Leu	rs749426883	missense variant	-	NC_000020.11:g.46056456C>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu1025Asp	COSM1027420	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056460G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Lys1026Met	rs1243967726	missense variant	-	NC_000020.11:g.46056462A>T	TOPMed
SLC12A5	Q9H2X9	p.Lys1026Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46056463G>T	NCI-TCGA
SLC12A5	Q9H2X9	p.His1028Arg	rs1359319227	missense variant	-	NC_000020.11:g.46056468A>G	gnomAD
SLC12A5	Q9H2X9	p.Asp1034Asn	rs776641614	missense variant	-	NC_000020.11:g.46056485G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ser1036Leu	rs1340688751	missense variant	-	NC_000020.11:g.46056492C>T	gnomAD
SLC12A5	Q9H2X9	p.Val1037Ala	rs1274575759	missense variant	-	NC_000020.11:g.46056495T>C	gnomAD
SLC12A5	Q9H2X9	p.Ala1038Glu	rs769375633	missense variant	-	NC_000020.11:g.46056498C>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ala1038Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46056497G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Asn1041Asp	rs1487995250	missense variant	-	NC_000020.11:g.46056506A>G	gnomAD
SLC12A5	Q9H2X9	p.Gly1043Asp	COSM1027421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056513G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Pro1044Leu	rs1206199358	missense variant	-	NC_000020.11:g.46056516C>T	TOPMed
SLC12A5	Q9H2X9	p.Ser1045Asn	rs1008003126	missense variant	-	NC_000020.11:g.46056519G>A	TOPMed
SLC12A5	Q9H2X9	p.Ser1045Arg	rs773934299	missense variant	-	NC_000020.11:g.46056520T>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser1045Arg	rs770611943	missense variant	-	NC_000020.11:g.46056518A>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro1046Ala	rs146580614	missense variant	-	NC_000020.11:g.46056521C>G	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val1047Ile	rs753162897	missense variant	-	NC_000020.11:g.46056524G>A	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ser1048Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46056528C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Gly1051Val	rs367960887	missense variant	-	NC_000020.11:g.46056537G>T	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gly1051Asp	rs367960887	missense variant	-	NC_000020.11:g.46056537G>A	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Lys1053Glu	rs372554606	missense variant	-	NC_000020.11:g.46056542A>G	ESP,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Lys1053Met	rs1432267961	missense variant	-	NC_000020.11:g.46056543A>T	TOPMed
SLC12A5	Q9H2X9	p.Phe1055Ser	rs779136827	missense variant	-	NC_000020.11:g.46056549T>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Phe1055Leu	rs1385851381	missense variant	-	NC_000020.11:g.46056550C>A	gnomAD
SLC12A5	Q9H2X9	p.Phe1056Leu	rs1321217422	missense variant	-	NC_000020.11:g.46056551T>C	gnomAD
SLC12A5	Q9H2X9	p.Ser1057Ile	rs750612388	missense variant	-	NC_000020.11:g.46056555G>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ser1057Asn	rs750612388	missense variant	-	NC_000020.11:g.46056555G>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Met1058Ile	rs375422132	missense variant	-	NC_000020.11:g.46056559G>A	ESP,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Pro1060Leu	rs1304640833	missense variant	-	NC_000020.11:g.46056564C>T	gnomAD
SLC12A5	Q9H2X9	p.Glu1063Asp	COSM3693696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056906G>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Gln1067Arg	rs529949253	missense variant	-	NC_000020.11:g.46057175A>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Gln1067Leu	rs529949253	missense variant	-	NC_000020.11:g.46057175A>T	1000Genomes,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Ser1068Ala	rs745381525	missense variant	-	NC_000020.11:g.46057177T>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asn1069Asp	rs1295980278	missense variant	-	NC_000020.11:g.46057180A>G	gnomAD
SLC12A5	Q9H2X9	p.Arg1071Trp	rs369042030	missense variant	-	NC_000020.11:g.46057186C>T	ESP,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg1071Gln	rs1291356001	missense variant	-	NC_000020.11:g.46057187G>A	TOPMed
SLC12A5	Q9H2X9	p.Arg1072Cys	rs548424453	missense variant	Epilepsy, idiopathic generalized 14 (EIG14)	NC_000020.11:g.46057189C>T	UniProt,dbSNP
SLC12A5	Q9H2X9	p.Arg1072Cys	VAR_075083	missense variant	Epilepsy, idiopathic generalized 14 (EIG14)	NC_000020.11:g.46057189C>T	UniProt
SLC12A5	Q9H2X9	p.Arg1072Cys	rs548424453	missense variant	-	NC_000020.11:g.46057189C>T	1000Genomes,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg1072Ser	rs548424453	missense variant	-	NC_000020.11:g.46057189C>A	1000Genomes,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg1072Cys	RCV000202620	missense variant	Epilepsy, idiopathic generalized, susceptibility to, 14 (EIG14)	NC_000020.11:g.46057189C>T	ClinVar
SLC12A5	Q9H2X9	p.Met1073Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46057193T>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Met1073Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46057194G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Thr1075Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46057199C>T	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg1078Gln	rs1489037061	missense variant	-	NC_000020.11:g.46057208G>A	gnomAD
SLC12A5	Q9H2X9	p.Val1082Phe	rs1420624470	missense variant	-	NC_000020.11:g.46057219G>T	gnomAD
SLC12A5	Q9H2X9	p.Ile1083Val	rs770196677	missense variant	-	NC_000020.11:g.46057222A>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ile1083Leu	rs770196677	missense variant	-	NC_000020.11:g.46057222A>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val1084Leu	rs763066735	missense variant	-	NC_000020.11:g.46057225G>T	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Val1084Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46057225G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Ser1087Cys	rs1379814505	missense variant	-	NC_000020.11:g.46057235C>G	TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Arg1088Trp	COSM4098970	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057237C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Ala1090Thr	COSM4098971	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057243G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Asn1096Ser	rs1402047500	missense variant	-	NC_000020.11:g.46057262A>G	gnomAD
SLC12A5	Q9H2X9	p.Gly1099Arg	COSM1483694	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057270G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Arg1102Cys	rs757147565	missense variant	-	NC_000020.11:g.46057279C>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Arg1102His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46057280G>A	NCI-TCGA
SLC12A5	Q9H2X9	p.Asn1103Lys	COSM6093489	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057284C>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Arg1104Leu	rs376095009	missense variant	-	NC_000020.11:g.46057286G>T	ESP,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Asn1105Lys	rs750376604	missense variant	-	NC_000020.11:g.46057290T>A	ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu1108Lys	COSM3547193	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057297G>A	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Glu1112Asp	rs374697509	missense variant	-	NC_000020.11:g.46057521G>T	ESP,ExAC,TOPMed,gnomAD
SLC12A5	Q9H2X9	p.Glu1112Gln	rs766339265	missense variant	-	NC_000020.11:g.46057519G>C	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Glu1115Lys	RCV000585846	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46057528G>A	ClinVar
SLC12A5	Q9H2X9	p.Glu1115Lys	rs1555868402	missense variant	-	NC_000020.11:g.46057528G>A	-
SLC12A5	Q9H2X9	p.Leu1121Val	rs1460872544	missense variant	-	NC_000020.11:g.46057546C>G	TOPMed
SLC12A5	Q9H2X9	p.Leu1121Arg	COSM4936868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057547T>G	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Arg1123Trp	COSM3547194	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057552C>T	NCI-TCGA Cosmic
SLC12A5	Q9H2X9	p.Val1124Leu	rs754574210	missense variant	-	NC_000020.11:g.46057555G>T	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Val1124Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.46057556T>G	NCI-TCGA
SLC12A5	Q9H2X9	p.Arg1128Gly	rs966217994	missense variant	-	NC_000020.11:g.46057567C>G	TOPMed
SLC12A5	Q9H2X9	p.Gly1131Ser	rs1422241396	missense variant	-	NC_000020.11:g.46057576G>A	gnomAD
SLC12A5	Q9H2X9	p.Gly1131Asp	rs1167419532	missense variant	-	NC_000020.11:g.46057577G>A	gnomAD
SLC12A5	Q9H2X9	p.Ile1137Ser	rs756392554	missense variant	-	NC_000020.11:g.46057595T>G	ExAC,gnomAD
SLC12A5	Q9H2X9	p.Ile1137Val	rs554444367	missense variant	-	NC_000020.11:g.46057594A>G	1000Genomes,ExAC,gnomAD
SLC12A5	Q9H2X9	p.Tyr1138AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.46057595_46057596insTG	NCI-TCGA
SLC12A5	Q9H2X9	p.Ser1139Ala	rs1442868117	missense variant	-	NC_000020.11:g.46057600T>G	gnomAD
SLC12A5	Q9H2X9	p.Ser1139Tyr	rs150192950	missense variant	-	NC_000020.11:g.46057601C>A	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Phe3Leu	COSM6054402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189631522T>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Glu4Gly	rs1288895794	missense variant	-	NC_000003.12:g.189631526A>G	TOPMed
TP63	Q9H3D4	p.Thr5Ile	COSM6097352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189631529C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Thr5Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189631529C>A	NCI-TCGA
TP63	Q9H3D4	p.Asn6His	VAR_082928	Missense	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]	-	UniProt
TP63	Q9H3D4	p.Asn6His	VAR_082927	Missense	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]	-	UniProt
TP63	Q9H3D4	p.Asn6His	VAR_082924	Missense	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]	-	UniProt
TP63	Q9H3D4	p.Asn6His	VAR_082929	Missense	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]	-	UniProt
TP63	Q9H3D4	p.Asn6His	VAR_082926	Missense	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]	-	UniProt
TP63	Q9H3D4	p.Asn6His	VAR_082925	Missense	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285]	-	UniProt
TP63	Q9H3D4	p.Arg7Trp	rs376627647	missense variant	-	NC_000003.12:g.189631534C>T	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg7Leu	rs568702479	missense variant	-	NC_000003.12:g.189631535G>T	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Arg7Gln	rs568702479	missense variant	-	NC_000003.12:g.189631535G>A	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Cys8Tyr	rs775109935	missense variant	-	NC_000003.12:g.189631538G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Cys8Phe	rs775109935	missense variant	-	NC_000003.12:g.189631538G>T	ExAC,gnomAD
TP63	Q9H3D4	p.Ala9Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189631541C>A	NCI-TCGA
TP63	Q9H3D4	p.Ala9Gly	rs1255910627	missense variant	-	NC_000003.12:g.189631541C>G	gnomAD
TP63	Q9H3D4	p.Gln12His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189631551G>T	NCI-TCGA
TP63	Q9H3D4	p.Gln12Arg	rs1202549612	missense variant	-	NC_000003.12:g.189631550A>G	TOPMed,gnomAD
TP63	Q9H3D4	p.Gln12Ter	rs1336582105	stop gained	-	NC_000003.12:g.189631549C>T	TOPMed
TP63	Q9H3D4	p.Tyr13Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.189631553_189631554insAGTGAGTC	NCI-TCGA
TP63	Q9H3D4	p.Asp16Asn	COSM1308939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189631561G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Asp16Tyr	rs1282548929	missense variant	-	NC_000003.12:g.189631561G>T	gnomAD
TP63	Q9H3D4	p.Pro17Ser	rs200000559	missense variant	-	NC_000003.12:g.189631564C>T	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Pro17Ala	rs200000559	missense variant	-	NC_000003.12:g.189631564C>G	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Pro17Arg	rs1408730457	missense variant	-	NC_000003.12:g.189631565C>G	TOPMed
TP63	Q9H3D4	p.Ile19Leu	rs1189434292	missense variant	-	NC_000003.12:g.189631570A>C	gnomAD
TP63	Q9H3D4	p.Gln20His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189631575G>T	NCI-TCGA
TP63	Q9H3D4	p.Arg21Cys	rs1452651956	missense variant	-	NC_000003.12:g.189631576C>T	gnomAD
TP63	Q9H3D4	p.Arg21His	rs766583971	missense variant	-	NC_000003.12:g.189631577G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Phe22Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189737743C>A	NCI-TCGA
TP63	Q9H3D4	p.Val23Ile	rs144315591	missense variant	-	NC_000003.12:g.189737744G>A	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Val23Leu	rs144315591	missense variant	-	NC_000003.12:g.189737744G>T	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.His28Gln	rs370716448	missense variant	-	NC_000003.12:g.189737761T>G	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.His28Arg	rs1162429216	missense variant	-	NC_000003.12:g.189737760A>G	TOPMed
TP63	Q9H3D4	p.Phe29Val	rs533808847	missense variant	-	NC_000003.12:g.189737762T>G	ExAC,gnomAD
TP63	Q9H3D4	p.Trp31Ser	rs1350312255	missense variant	-	NC_000003.12:g.189737769G>C	gnomAD
TP63	Q9H3D4	p.Glu33Lys	COSM3591124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189737774G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Glu33Ala	rs752713164	missense variant	-	NC_000003.12:g.189737775A>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser34Arg	rs756188491	missense variant	-	NC_000003.12:g.189737779T>G	ExAC,gnomAD
TP63	Q9H3D4	p.Tyr36Phe	rs1221897978	missense variant	-	NC_000003.12:g.189737784A>T	gnomAD
TP63	Q9H3D4	p.Arg37Gln	rs754361670	missense variant	-	NC_000003.12:g.189737787G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg37Leu	rs754361670	missense variant	-	NC_000003.12:g.189737787G>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg37Ter	rs147340040	stop gained	-	NC_000003.12:g.189737786C>T	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser38Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189737790C>T	NCI-TCGA
TP63	Q9H3D4	p.Met40Thr	rs779859382	missense variant	-	NC_000003.12:g.189737796T>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met40Val	rs757932730	missense variant	-	NC_000003.12:g.189737795A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Thr44Ile	rs746479227	missense variant	-	NC_000003.12:g.189737808C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Gln45Glu	rs1438370585	missense variant	-	NC_000003.12:g.189737810C>G	TOPMed
TP63	Q9H3D4	p.Thr46Ala	rs1413841706	missense variant	-	NC_000003.12:g.189737813A>G	gnomAD
TP63	Q9H3D4	p.Glu48Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.189737819G>T	NCI-TCGA
TP63	Q9H3D4	p.Glu48Asp	rs1245371733	missense variant	-	NC_000003.12:g.189737821A>C	TOPMed
TP63	Q9H3D4	p.Leu50Phe	rs1163601484	missense variant	-	NC_000003.12:g.189737825C>T	gnomAD
TP63	Q9H3D4	p.Pro52Leu	rs1018814684	missense variant	-	NC_000003.12:g.189737832C>T	TOPMed
TP63	Q9H3D4	p.Glu53Gln	COSM6164334	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189737834G>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Val54Ala	rs1229191758	missense variant	-	NC_000003.12:g.189737838T>C	TOPMed
TP63	Q9H3D4	p.Gln56Lys	rs748003468	missense variant	-	NC_000003.12:g.189737843C>A	ExAC,gnomAD
TP63	Q9H3D4	p.His57Arg	rs1370488031	missense variant	-	NC_000003.12:g.189737847A>G	gnomAD
TP63	Q9H3D4	p.His57Asn	rs574565024	missense variant	-	NC_000003.12:g.189737846C>A	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.His57Tyr	rs574565024	missense variant	-	NC_000003.12:g.189737846C>T	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Ile58Thr	COSM1308941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189737850T>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Trp59Ter	rs151051217	stop gained	-	NC_000003.12:g.189737854G>A	1000Genomes
TP63	Q9H3D4	p.Asp60Asn	rs772867228	missense variant	-	NC_000003.12:g.189737855G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Gln64His	rs769559531	missense variant	-	NC_000003.12:g.189738642G>C	ExAC,gnomAD
TP63	Q9H3D4	p.Pro65His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189738644C>A	NCI-TCGA
TP63	Q9H3D4	p.Pro65Leu	rs777769671	missense variant	-	NC_000003.12:g.189738644C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Ile66Val	rs748992625	missense variant	-	NC_000003.12:g.189738646A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Ile66Met	rs142452541	missense variant	-	NC_000003.12:g.189738648A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Val69Leu	rs1330936376	missense variant	-	NC_000003.12:g.189738655G>C	TOPMed
TP63	Q9H3D4	p.Val69Gly	rs1380696676	missense variant	-	NC_000003.12:g.189738656T>G	gnomAD
TP63	Q9H3D4	p.Gln70His	rs201631366	missense variant	-	NC_000003.12:g.189738660G>C	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro71Ser	rs1229142388	missense variant	-	NC_000003.12:g.189738661C>T	gnomAD
TP63	Q9H3D4	p.Asp73Asn	COSM3591132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189738667G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Asn75Asp	rs1276675867	missense variant	-	NC_000003.12:g.189738673A>G	gnomAD
TP63	Q9H3D4	p.Asp78Glu	rs1256326731	missense variant	-	NC_000003.12:g.189738684T>A	gnomAD
TP63	Q9H3D4	p.Asp78Val	rs768926448	missense variant	-	NC_000003.12:g.189738683A>T	ExAC,gnomAD
TP63	Q9H3D4	p.Glu79Lys	rs1484040098	missense variant	-	NC_000003.12:g.189738685G>A	gnomAD
TP63	Q9H3D4	p.Glu82Gly	rs776520164	missense variant	-	NC_000003.12:g.189738695A>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Glu82Gln	rs1348298476	missense variant	-	NC_000003.12:g.189738694G>C	gnomAD
TP63	Q9H3D4	p.Asp83Val	rs761960474	missense variant	-	NC_000003.12:g.189738698A>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ala85Val	rs750962649	missense variant	-	NC_000003.12:g.189738704C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Thr86Arg	rs766820575	missense variant	-	NC_000003.12:g.189738707C>G	ExAC
TP63	Q9H3D4	p.Asn87Lys	rs1433073879	missense variant	-	NC_000003.12:g.189738711C>G	gnomAD
TP63	Q9H3D4	p.Glu90Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189738718G>C	NCI-TCGA
TP63	Q9H3D4	p.Ser92Ile	COSM4116012	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189738725G>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ser92Asn	rs1317891458	missense variant	-	NC_000003.12:g.189738725G>A	TOPMed
TP63	Q9H3D4	p.Asp94Val	rs1177278893	missense variant	-	NC_000003.12:g.189738731A>T	gnomAD
TP63	Q9H3D4	p.Cys95Tyr	rs752035368	missense variant	-	NC_000003.12:g.189738734G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ile96Val	rs372543100	missense variant	-	NC_000003.12:g.189738736A>G	ESP,ExAC,gnomAD
TP63	Q9H3D4	p.Ile96Phe	rs372543100	missense variant	-	NC_000003.12:g.189738736A>T	ESP,ExAC,gnomAD
TP63	Q9H3D4	p.Arg97Cys	RCV000006924	missense variant	Split-hand/foot malformation 4 (SHFM4)	NC_000003.12:g.189738739C>T	ClinVar
TP63	Q9H3D4	p.Arg97Cys	rs121908848	missense variant	Split-hand/foot malformation 4 (shfm4)	NC_000003.12:g.189738739C>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Arg97His	rs752080701	missense variant	-	NC_000003.12:g.189738740G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg97Ser	rs121908848	missense variant	Split-hand/foot malformation 4 (shfm4)	NC_000003.12:g.189738739C>A	TOPMed,gnomAD
TP63	Q9H3D4	p.Gln99Leu	rs1427851401	missense variant	-	NC_000003.12:g.189738746A>T	TOPMed
TP63	Q9H3D4	p.Asp100Asn	rs1173748831	missense variant	-	NC_000003.12:g.189738748G>A	TOPMed
TP63	Q9H3D4	p.Ser101Leu	rs755677647	missense variant	-	NC_000003.12:g.189738752C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Leu103Pro	rs1218521246	missense variant	-	NC_000003.12:g.189738758T>C	gnomAD
TP63	Q9H3D4	p.Met107Leu	COSM73048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189738769A>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Met107CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.189738765C>-	NCI-TCGA
TP63	Q9H3D4	p.Met107Thr	rs778668978	missense variant	-	NC_000003.12:g.189738770T>C	ExAC,gnomAD
TP63	Q9H3D4	p.Met107Val	rs757222487	missense variant	-	NC_000003.12:g.189738769A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Trp108Ser	rs745679197	missense variant	-	NC_000003.12:g.189738773G>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gln110Arg	rs779896859	missense variant	-	NC_000003.12:g.189808276A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Thr112Met	COSM1042484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808282C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Leu114Val	rs756300145	missense variant	-	NC_000003.12:g.189808287C>G	ExAC,gnomAD
TP63	Q9H3D4	p.Leu114Met	rs756300145	missense variant	-	NC_000003.12:g.189808287C>A	ExAC,gnomAD
TP63	Q9H3D4	p.Ser119Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808303G>A	NCI-TCGA
TP63	Q9H3D4	p.Asp121Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808308G>T	NCI-TCGA
TP63	Q9H3D4	p.Asp121Asn	rs111466227	missense variant	-	NC_000003.12:g.189808308G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Gln122Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.189808311C>T	NCI-TCGA
TP63	Q9H3D4	p.Gln122Arg	rs1464124009	missense variant	-	NC_000003.12:g.189808312A>G	gnomAD
TP63	Q9H3D4	p.Gln122His	rs201774402	missense variant	-	NC_000003.12:g.189808313G>C	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ile124Thr	RCV000623982	missense variant	Inborn genetic diseases	NC_000003.12:g.189808318T>C	ClinVar
TP63	Q9H3D4	p.Ile124Thr	rs1553845417	missense variant	-	NC_000003.12:g.189808318T>C	-
TP63	Q9H3D4	p.Gln125Pro	rs982556895	missense variant	-	NC_000003.12:g.189808321A>C	TOPMed,gnomAD
TP63	Q9H3D4	p.Gln125His	rs779179533	missense variant	-	NC_000003.12:g.189808322G>C	ExAC,gnomAD
TP63	Q9H3D4	p.Asn126Lys	rs547314129	missense variant	-	NC_000003.12:g.189808325C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gly127Ser	rs375508394	missense variant	-	NC_000003.12:g.189808326G>A	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser128Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808329T>G	NCI-TCGA
TP63	Q9H3D4	p.Ser129Leu	rs193287780	missense variant	-	NC_000003.12:g.189808333C>T	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Ser130Tyr	rs1278311377	missense variant	-	NC_000003.12:g.189808336C>A	gnomAD
TP63	Q9H3D4	p.Ser130Cys	rs1278311377	missense variant	-	NC_000003.12:g.189808336C>G	gnomAD
TP63	Q9H3D4	p.Ser132Asn	rs989652391	missense variant	-	NC_000003.12:g.189808342G>A	gnomAD
TP63	Q9H3D4	p.Pro133Leu	COSM3591150	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808345C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Pro133Ser	rs776290495	missense variant	-	NC_000003.12:g.189808344C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Tyr134Cys	rs1381645678	missense variant	-	NC_000003.12:g.189808348A>G	TOPMed
TP63	Q9H3D4	p.Asp137Asn	COSM3591153	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808356G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Asp137His	rs762935508	missense variant	-	NC_000003.12:g.189808356G>C	ExAC,gnomAD
TP63	Q9H3D4	p.Asp137His	RCV000286634	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000003.12:g.189808356G>C	ClinVar
TP63	Q9H3D4	p.Asp137Glu	rs1401203192	missense variant	-	NC_000003.12:g.189808358C>G	gnomAD
TP63	Q9H3D4	p.Asp137His	RCV000371721	missense variant	Ectrodactyly	NC_000003.12:g.189808356G>C	ClinVar
TP63	Q9H3D4	p.Asp137His	RCV000317111	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189808356G>C	ClinVar
TP63	Q9H3D4	p.Ala139Thr	COSM209235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808362G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ala139Val	rs751300168	missense variant	-	NC_000003.12:g.189808363C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gln140Pro	rs778091982	missense variant	-	NC_000003.12:g.189808366A>C	ExAC,gnomAD
TP63	Q9H3D4	p.Gln140His	rs757588913	missense variant	-	NC_000003.12:g.189808367G>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gln140His	rs757588913	missense variant	-	NC_000003.12:g.189808367G>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gln140Arg	rs778091982	missense variant	-	NC_000003.12:g.189808366A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Ser142Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808372G>A	NCI-TCGA
TP63	Q9H3D4	p.Ser142Arg	rs1328739177	missense variant	-	NC_000003.12:g.189808373C>A	gnomAD
TP63	Q9H3D4	p.Ser142Cys	rs779128548	missense variant	-	NC_000003.12:g.189808371A>T	ExAC
TP63	Q9H3D4	p.Val143Gly	rs1169665681	missense variant	-	NC_000003.12:g.189808375T>G	TOPMed
TP63	Q9H3D4	p.Thr144Met	rs1274675449	missense variant	-	NC_000003.12:g.189808378C>T	gnomAD
TP63	Q9H3D4	p.Ala145Val	rs1225645471	missense variant	-	NC_000003.12:g.189808381C>T	gnomAD
TP63	Q9H3D4	p.Ala145Glu	rs1225645471	missense variant	-	NC_000003.12:g.189808381C>A	gnomAD
TP63	Q9H3D4	p.Ser147Leu	rs747354750	missense variant	-	NC_000003.12:g.189808387C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Pro148Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808389C>G	NCI-TCGA
TP63	Q9H3D4	p.Ala150Thr	rs762371837	missense variant	-	NC_000003.12:g.189808395G>A	ExAC
TP63	Q9H3D4	p.Pro152His	COSM6164331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808402C>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Pro152Ser	rs766297918	missense variant	-	NC_000003.12:g.189808401C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Ser153Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808406C>A	NCI-TCGA
TP63	Q9H3D4	p.Asp157Tyr	COSM1042488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808416G>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ala158Val	rs767384779	missense variant	-	NC_000003.12:g.189808420C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Leu159Phe	rs752603187	missense variant	-	NC_000003.12:g.189808422C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Leu159Val	rs752603187	missense variant	-	NC_000003.12:g.189808422C>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser160Cys	COSM5243768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808426C>G	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Pro161Leu	rs1316823566	missense variant	-	NC_000003.12:g.189808429C>T	gnomAD
TP63	Q9H3D4	p.Pro161Ser	rs1320669467	missense variant	-	NC_000003.12:g.189808428C>T	gnomAD
TP63	Q9H3D4	p.Ser162Pro	rs1385659222	missense variant	-	NC_000003.12:g.189808431T>C	gnomAD
TP63	Q9H3D4	p.Pro163Ser	RCV000692960	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189808434C>T	ClinVar
TP63	Q9H3D4	p.Pro163Leu	COSM3591156	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808435C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ala164Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808438C>T	NCI-TCGA
TP63	Q9H3D4	p.Ala164Thr	rs765564666	missense variant	-	NC_000003.12:g.189808437G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ile165AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.189808439_189808440insA	NCI-TCGA
TP63	Q9H3D4	p.Pro166His	RCV000693615	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189808444C>A	ClinVar
TP63	Q9H3D4	p.Pro166Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808444C>T	NCI-TCGA
TP63	Q9H3D4	p.Ser167Phe	RCV000624261	missense variant	Inborn genetic diseases	NC_000003.12:g.189808447C>T	ClinVar
TP63	Q9H3D4	p.Ser167Phe	rs1553845515	missense variant	-	NC_000003.12:g.189808447C>T	-
TP63	Q9H3D4	p.Asn168His	rs1228592371	missense variant	-	NC_000003.12:g.189808449A>C	TOPMed
TP63	Q9H3D4	p.Asp170Asn	COSM3591159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808455G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Pro172Arg	rs1442892292	missense variant	-	NC_000003.12:g.189808462C>G	gnomAD
TP63	Q9H3D4	p.Gly173Arg	RCV000695697	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189808464G>C	ClinVar
TP63	Q9H3D4	p.Gly173Val	RCV000494181	missense variant	-	NC_000003.12:g.189808465G>T	ClinVar
TP63	Q9H3D4	p.Gly173Asp	RCV000032229	missense variant	ADULT syndrome	NC_000003.12:g.189808465G>A	ClinVar
TP63	Q9H3D4	p.Gly173Val	rs113993965	missense variant	-	NC_000003.12:g.189808465G>T	-
TP63	Q9H3D4	p.Gly173Asp	rs113993965	missense variant	-	NC_000003.12:g.189808465G>A	-
TP63	Q9H3D4	p.Pro174Gln	COSM402413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808468C>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Pro174Leu	rs201188464	missense variant	-	NC_000003.12:g.189808468C>T	gnomAD
TP63	Q9H3D4	p.Phe177Val	rs747443275	missense variant	-	NC_000003.12:g.189808476T>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Asp178Asn	COSM1693945	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808479G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Asp178Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808480A>G	NCI-TCGA
TP63	Q9H3D4	p.Asp178Tyr	rs1266601767	missense variant	-	NC_000003.12:g.189808479G>T	gnomAD
TP63	Q9H3D4	p.Ser180Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808486C>T	NCI-TCGA
TP63	Q9H3D4	p.Ser180Ala	rs1002291717	missense variant	-	NC_000003.12:g.189808485T>G	TOPMed,gnomAD
TP63	Q9H3D4	p.Ser180Cys	rs1356247748	missense variant	-	NC_000003.12:g.189808486C>G	TOPMed
TP63	Q9H3D4	p.Gln182Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.189808491C>T	NCI-TCGA
TP63	Q9H3D4	p.Gln183Ter	rs1057520750	stop gained	-	NC_000003.12:g.189808494C>T	-
TP63	Q9H3D4	p.Gln183Ter	RCV000422835	nonsense	-	NC_000003.12:g.189808494C>T	ClinVar
TP63	Q9H3D4	p.Ser184Trp	COSM1647621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808498C>G	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ser184Leu	COSM121050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808498C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ser184Leu	VAR_020866	Missense	-	-	UniProt
TP63	Q9H3D4	p.Thr186Ile	rs1489129378	missense variant	-	NC_000003.12:g.189808504C>T	gnomAD
TP63	Q9H3D4	p.Ala187Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808506G>A	NCI-TCGA
TP63	Q9H3D4	p.Ala187Pro	VAR_020867	Missense	-	-	UniProt
TP63	Q9H3D4	p.Lys188Met	COSM4843062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808510A>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ser189Leu	rs866938979	missense variant	-	NC_000003.12:g.189808513C>T	-
TP63	Q9H3D4	p.Ala190Val	COSM1421614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189808516C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Thr193Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189808525C>T	NCI-TCGA
TP63	Q9H3D4	p.Thr193insThrPro	VAR_032736	inframe_insertion	Split-hand/foot malformation 4 (SHFM4) [MIM:605289]	-	UniProt
TP63	Q9H3D4	p.Tyr194Ser	COSM3408505	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189864233A>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Thr196Asn	rs568772953	missense variant	-	NC_000003.12:g.189864239C>A	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Thr196Ser	rs568772953	missense variant	-	NC_000003.12:g.189864239C>G	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Thr196Ala	rs746943082	missense variant	-	NC_000003.12:g.189864238A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Lys199Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189864249G>T	NCI-TCGA
TP63	Q9H3D4	p.Tyr202Cys	RCV000414612	missense variant	-	NC_000003.12:g.189864257A>G	ClinVar
TP63	Q9H3D4	p.Tyr202Cys	rs1057517984	missense variant	-	NC_000003.12:g.189864257A>G	-
TP63	Q9H3D4	p.Gln204Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189864262C>A	NCI-TCGA
TP63	Q9H3D4	p.Gln204Leu	VAR_020868	Missense	-	-	UniProt
TP63	Q9H3D4	p.Lys207Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189864273G>T	NCI-TCGA
TP63	Q9H3D4	p.Ile211Thr	rs1237045113	missense variant	-	NC_000003.12:g.189864284T>C	gnomAD
TP63	Q9H3D4	p.Met216Ile	rs767553568	missense variant	-	NC_000003.12:g.189864300G>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met216Ile	rs767553568	missense variant	-	NC_000003.12:g.189864300G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met216Leu	rs759801493	missense variant	-	NC_000003.12:g.189864298A>T	ExAC,gnomAD
TP63	Q9H3D4	p.Met216Val	rs759801493	missense variant	-	NC_000003.12:g.189864298A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Met216Arg	rs1297214489	missense variant	-	NC_000003.12:g.189864299T>G	TOPMed
TP63	Q9H3D4	p.Pro219Leu	COSM4851127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189864308C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Pro220Ala	rs754080925	missense variant	-	NC_000003.12:g.189864310C>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro220Ser	rs754080925	missense variant	-	NC_000003.12:g.189864310C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gln221Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189864313C>G	NCI-TCGA
TP63	Q9H3D4	p.Gly222Glu	COSM3591174	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189864317G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Val224Ile	rs757669482	missense variant	-	NC_000003.12:g.189864322G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Ile225Thr	rs374833411	missense variant	-	NC_000003.12:g.189864326T>C	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ile225Val	rs550991181	missense variant	-	NC_000003.12:g.189864325A>G	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ile225Phe	rs550991181	missense variant	-	NC_000003.12:g.189864325A>T	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg226His	RCV000149048	missense variant	Malignant tumor of prostate	NC_000003.12:g.189864329G>A	ClinVar
TP63	Q9H3D4	p.Arg226His	rs193921145	missense variant	-	NC_000003.12:g.189864329G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met228Thr	rs1363677860	missense variant	-	NC_000003.12:g.189864335T>C	gnomAD
TP63	Q9H3D4	p.Val230Leu	rs201466089	missense variant	-	NC_000003.12:g.189864340G>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Lys232Glu	RCV000695736	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189864346A>G	ClinVar
TP63	Q9H3D4	p.Lys232Glu	VAR_032737	Missense	Split-hand/foot malformation 4 (SHFM4) [MIM:605289]	-	UniProt
TP63	Q9H3D4	p.Lys233Thr	RCV000512665	missense variant	-	NC_000003.12:g.189864350A>C	ClinVar
TP63	Q9H3D4	p.Lys233Glu	RCV000006904	missense variant	Split-hand/foot malformation 4 (SHFM4)	NC_000003.12:g.189864349A>G	ClinVar
TP63	Q9H3D4	p.Lys233Glu	rs121908838	missense variant	Split-hand/foot malformation 4 (SHFM4)	NC_000003.12:g.189864349A>G	UniProt,dbSNP
TP63	Q9H3D4	p.Lys233Glu	VAR_020869	missense variant	Split-hand/foot malformation 4 (SHFM4)	NC_000003.12:g.189864349A>G	UniProt
TP63	Q9H3D4	p.Lys233Glu	rs121908838	missense variant	Split-hand/foot malformation 4 (shfm4)	NC_000003.12:g.189864349A>G	-
TP63	Q9H3D4	p.Lys233Thr	rs1553856533	missense variant	-	NC_000003.12:g.189864350A>C	-
TP63	Q9H3D4	p.Ala234SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.189864345_189864346insA	NCI-TCGA
TP63	Q9H3D4	p.Val237Ile	rs576751351	missense variant	-	NC_000003.12:g.189864361G>A	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Thr238Met	rs377757904	missense variant	-	NC_000003.12:g.189864365C>T	ESP,TOPMed,gnomAD
TP63	Q9H3D4	p.Lys242Arg	rs201617537	missense variant	-	NC_000003.12:g.189864377A>G	1000Genomes
TP63	Q9H3D4	p.Arg243Gln	RCV000006901	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189864380G>A	ClinVar
TP63	Q9H3D4	p.Arg243Trp	RCV000812084	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189864379C>T	ClinVar
TP63	Q9H3D4	p.Arg243Gln	RCV000705452	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189864380G>A	ClinVar
TP63	Q9H3D4	p.Arg243Trp	RCV000006900	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189864379C>T	ClinVar
TP63	Q9H3D4	p.Arg243Trp	RCV000394306	missense variant	-	NC_000003.12:g.189864379C>T	ClinVar
TP63	Q9H3D4	p.Arg243Gln	rs121908836	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189864380G>A	UniProt,dbSNP
TP63	Q9H3D4	p.Arg243Gln	VAR_020870	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189864380G>A	UniProt
TP63	Q9H3D4	p.Arg243Gln	rs121908836	missense variant	-	NC_000003.12:g.189864380G>A	TOPMed
TP63	Q9H3D4	p.Arg243Trp	rs121908835	missense variant	-	NC_000003.12:g.189864379C>T	-
TP63	Q9H3D4	p.Arg243Trp	rs121908835	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189864379C>T	UniProt,dbSNP
TP63	Q9H3D4	p.Arg243Trp	VAR_020871	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189864379C>T	UniProt
TP63	Q9H3D4	p.His247Tyr	RCV000851194	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189864391C>T	ClinVar
TP63	Q9H3D4	p.His247Arg	RCV000206266	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189864392A>G	ClinVar
TP63	Q9H3D4	p.His247Tyr	rs1553856553	missense variant	-	NC_000003.12:g.189864391C>T	-
TP63	Q9H3D4	p.His247Arg	RCV000312203	missense variant	-	NC_000003.12:g.189864392A>G	ClinVar
TP63	Q9H3D4	p.His247Arg	RCV000821003	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189864392A>G	ClinVar
TP63	Q9H3D4	p.His247Arg	rs864621968	missense variant	-	NC_000003.12:g.189864392A>G	-
TP63	Q9H3D4	p.Glu248Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189864394G>A	NCI-TCGA
TP63	Q9H3D4	p.Arg251His	rs1198643405	missense variant	-	NC_000003.12:g.189864404G>A	gnomAD
TP63	Q9H3D4	p.Phe253Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189864411C>A	NCI-TCGA
TP63	Q9H3D4	p.Glu255Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189864417G>T	NCI-TCGA
TP63	Q9H3D4	p.Gly256Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189864418G>A	NCI-TCGA
TP63	Q9H3D4	p.Pro261Ser	rs1158573382	missense variant	-	NC_000003.12:g.189866696C>T	gnomAD
TP63	Q9H3D4	p.Ser262Asn	rs904037771	missense variant	-	NC_000003.12:g.189866700G>A	TOPMed,gnomAD
TP63	Q9H3D4	p.Ser262Thr	rs904037771	missense variant	-	NC_000003.12:g.189866700G>C	TOPMed,gnomAD
TP63	Q9H3D4	p.Ser262Ile	rs904037771	missense variant	-	NC_000003.12:g.189866700G>T	TOPMed,gnomAD
TP63	Q9H3D4	p.His263Pro	rs1318766368	missense variant	-	NC_000003.12:g.189866703A>C	gnomAD
TP63	Q9H3D4	p.Arg266Gln	RCV000006926	missense variant	ADULT syndrome	NC_000003.12:g.189866712G>A	ClinVar
TP63	Q9H3D4	p.Arg266Gln	RCV000413620	missense variant	-	NC_000003.12:g.189866712G>A	ClinVar
TP63	Q9H3D4	p.Arg266Ter	COSM1042490	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.189866711C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg266Gln	RCV000006925	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189866712G>A	ClinVar
TP63	Q9H3D4	p.Arg266Gln	rs121908849	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189866712G>A	UniProt,dbSNP
TP63	Q9H3D4	p.Arg266Gln	VAR_032738	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189866712G>A	UniProt
TP63	Q9H3D4	p.Arg266Gln	rs121908849	missense variant	-	NC_000003.12:g.189866712G>A	-
TP63	Q9H3D4	p.Val267Ile	rs768752805	missense variant	-	NC_000003.12:g.189866714G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Val267Leu	rs768752805	missense variant	-	NC_000003.12:g.189866714G>T	ExAC,gnomAD
TP63	Q9H3D4	p.Gly269Glu	COSM1421616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189866721G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Asn270Thr	rs79939938	missense variant	-	NC_000003.12:g.189866724A>C	ExAC,gnomAD
TP63	Q9H3D4	p.Asn270Ser	rs79939938	missense variant	-	NC_000003.12:g.189866724A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Ala273Ser	rs1218025384	missense variant	-	NC_000003.12:g.189866732G>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Gln274Ter	RCV000710017	frameshift	Orofacial cleft 8	NC_000003.12:g.189866734_189866735dup	ClinVar
TP63	Q9H3D4	p.Glu277Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.189866744G>T	NCI-TCGA
TP63	Q9H3D4	p.Pro279His	VAR_020872	Missense	-	-	UniProt
TP63	Q9H3D4	p.Ile280Asn	rs190865056	missense variant	-	NC_000003.12:g.189866754T>A	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Thr281Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189866757C>G	NCI-TCGA
TP63	Q9H3D4	p.Thr281Ala	rs756839728	missense variant	-	NC_000003.12:g.189866756A>G	gnomAD
TP63	Q9H3D4	p.Gly282Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189866759G>A	NCI-TCGA
TP63	Q9H3D4	p.Gln284Glu	rs751232018	missense variant	-	NC_000003.12:g.189866765C>G	ExAC,gnomAD
TP63	Q9H3D4	p.Ser285Ter	RCV000584992	frameshift	-	NC_000003.12:g.189866766_189866767AG[1]	ClinVar
TP63	Q9H3D4	p.Ser285Asn	rs754624330	missense variant	-	NC_000003.12:g.189866769G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Val286Met	rs1490449010	missense variant	-	NC_000003.12:g.189866771G>A	gnomAD
TP63	Q9H3D4	p.Val288Ile	rs1341337563	missense variant	-	NC_000003.12:g.189866777G>A	TOPMed
TP63	Q9H3D4	p.Pro289Ser	rs757045273	missense variant	-	NC_000003.12:g.189866780C>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Tyr290Cys	rs1394325408	missense variant	-	NC_000003.12:g.189866784A>G	TOPMed
TP63	Q9H3D4	p.Glu291Asp	rs777691114	missense variant	-	NC_000003.12:g.189866788G>T	ExAC,gnomAD
TP63	Q9H3D4	p.Pro292Ala	rs749041260	missense variant	-	NC_000003.12:g.189866789C>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro292Thr	rs749041260	missense variant	-	NC_000003.12:g.189866789C>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro293Thr	rs1303882523	missense variant	-	NC_000003.12:g.189866792C>A	TOPMed
TP63	Q9H3D4	p.Gln294His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189866797G>T	NCI-TCGA
TP63	Q9H3D4	p.Thr300Lys	RCV000259317	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189867849C>A	ClinVar
TP63	Q9H3D4	p.Thr300Lys	RCV000323844	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000003.12:g.189867849C>A	ClinVar
TP63	Q9H3D4	p.Thr300Lys	RCV000355035	missense variant	Ectrodactyly	NC_000003.12:g.189867849C>A	ClinVar
TP63	Q9H3D4	p.Thr300Met	rs886058222	missense variant	-	NC_000003.12:g.189867849C>T	gnomAD
TP63	Q9H3D4	p.Thr300Lys	rs886058222	missense variant	-	NC_000003.12:g.189867849C>A	gnomAD
TP63	Q9H3D4	p.Phe306Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189867867T>G	NCI-TCGA
TP63	Q9H3D4	p.Cys308Tyr	VAR_032739	Missense	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]	-	UniProt
TP63	Q9H3D4	p.Ser311Asn	VAR_032740	Missense	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]	-	UniProt
TP63	Q9H3D4	p.Cys312Tyr	rs1057520664	missense variant	-	NC_000003.12:g.189867885G>A	-
TP63	Q9H3D4	p.Cys312Tyr	RCV000435995	missense variant	-	NC_000003.12:g.189867885G>A	ClinVar
TP63	Q9H3D4	p.Val313Ile	rs759823000	missense variant	-	NC_000003.12:g.189867887G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Val313Phe	rs759823000	missense variant	-	NC_000003.12:g.189867887G>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gly314Ala	COSM3783688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189867891G>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg318His	RCV000006907	missense variant	Rapp-Hodgkin ectodermal dysplasia syndrome (RHS)	NC_000003.12:g.189867903G>A	ClinVar
TP63	Q9H3D4	p.Arg318His	RCV000006906	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189867903G>A	ClinVar
TP63	Q9H3D4	p.Arg318His	RCV000478736	missense variant	-	NC_000003.12:g.189867903G>A	ClinVar
TP63	Q9H3D4	p.Arg318His	RCV000548176	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189867903G>A	ClinVar
TP63	Q9H3D4	p.Arg318His	rs121908840	missense variant	Rapp-Hodgkin syndrome (RHS)	NC_000003.12:g.189867903G>A	UniProt,dbSNP
TP63	Q9H3D4	p.Arg318His	VAR_020873	missense variant	Rapp-Hodgkin syndrome (RHS)	NC_000003.12:g.189867903G>A	UniProt
TP63	Q9H3D4	p.Arg318His	rs121908840	missense variant	-	NC_000003.12:g.189867903G>A	-
TP63	Q9H3D4	p.Arg318Cys	rs1205536026	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189867902C>T	UniProt,dbSNP
TP63	Q9H3D4	p.Arg318Cys	VAR_032741	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189867902C>T	UniProt
TP63	Q9H3D4	p.Arg318Cys	rs1205536026	missense variant	-	NC_000003.12:g.189867902C>T	-
TP63	Q9H3D4	p.Arg318Gln	VAR_032742	Missense	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]	-	UniProt
TP63	Q9H3D4	p.Arg319Cys	RCV000006905	missense variant	Split-hand/foot malformation 4 (SHFM4)	NC_000003.12:g.189867905C>T	ClinVar
TP63	Q9H3D4	p.Arg319His	RCV000255404	missense variant	-	NC_000003.12:g.189867906G>A	ClinVar
TP63	Q9H3D4	p.Arg319Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189867906G>T	NCI-TCGA
TP63	Q9H3D4	p.Arg319His	rs886039442	missense variant	-	NC_000003.12:g.189867906G>A	-
TP63	Q9H3D4	p.Arg319Cys	rs121908839	missense variant	Split-hand/foot malformation 4 (shfm4)	NC_000003.12:g.189867905C>T	-
TP63	Q9H3D4	p.Arg319Cys	rs121908839	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189867905C>T	UniProt,dbSNP
TP63	Q9H3D4	p.Arg319Cys	VAR_020874	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189867905C>T	UniProt
TP63	Q9H3D4	p.Arg319Ser	VAR_032744	Missense	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]	-	UniProt
TP63	Q9H3D4	p.Ile321Val	rs1033329267	missense variant	-	NC_000003.12:g.189867911A>G	TOPMed
TP63	Q9H3D4	p.Val325Ala	rs1320920860	missense variant	-	NC_000003.12:g.189867924T>C	TOPMed,gnomAD
TP63	Q9H3D4	p.Val325Asp	rs1320920860	missense variant	-	NC_000003.12:g.189867924T>A	TOPMed,gnomAD
TP63	Q9H3D4	p.Thr326Ile	rs1202504460	missense variant	-	NC_000003.12:g.189867927C>T	gnomAD
TP63	Q9H3D4	p.Glu328Lys	COSM3591184	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189867932G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Thr329Pro	COSM73049	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189867935A>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg330Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189867939G>A	NCI-TCGA
TP63	Q9H3D4	p.Asp331Val	rs753404887	missense variant	-	NC_000003.12:g.189867942A>T	ExAC
TP63	Q9H3D4	p.Arg337Gly	RCV000006923	missense variant	ADULT syndrome	NC_000003.12:g.189868596C>G	ClinVar
TP63	Q9H3D4	p.Arg337Ter	COSM3915560	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.189868596C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg337Leu	COSM1042491	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189868597G>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg337Gln	RCV000794231	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189868597G>A	ClinVar
TP63	Q9H3D4	p.Arg337Gln	RCV000006914	missense variant	ADULT syndrome	NC_000003.12:g.189868597G>A	ClinVar
TP63	Q9H3D4	p.Arg337Gly	rs113993966	missense variant	-	NC_000003.12:g.189868596C>G	-
TP63	Q9H3D4	p.Arg337Gln	rs113993967	missense variant	-	NC_000003.12:g.189868597G>A	-
TP63	Q9H3D4	p.Arg337Gln	rs113993967	missense variant	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)	NC_000003.12:g.189868597G>A	UniProt,dbSNP
TP63	Q9H3D4	p.Arg337Gln	VAR_020875	missense variant	Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome)	NC_000003.12:g.189868597G>A	UniProt
TP63	Q9H3D4	p.Arg338His	RCV000497878	missense variant	-	NC_000003.12:g.189868600G>A	ClinVar
TP63	Q9H3D4	p.Arg338Cys	rs1404019220	missense variant	-	NC_000003.12:g.189868599C>T	gnomAD
TP63	Q9H3D4	p.Arg338His	rs1029852196	missense variant	-	NC_000003.12:g.189868600G>A	TOPMed
TP63	Q9H3D4	p.Phe340Leu	rs756342630	missense variant	-	NC_000003.12:g.189868605T>C	ExAC,gnomAD
TP63	Q9H3D4	p.Arg343Gln	RCV000276670	missense variant	-	NC_000003.12:g.189868615G>A	ClinVar
TP63	Q9H3D4	p.Arg343Leu	COSM4420567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189868615G>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg343Gln	rs121908841	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868615G>A	UniProt,dbSNP
TP63	Q9H3D4	p.Arg343Gln	VAR_020876	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868615G>A	UniProt
TP63	Q9H3D4	p.Arg343Gln	rs121908841	missense variant	-	NC_000003.12:g.189868615G>A	-
TP63	Q9H3D4	p.Arg343Trp	rs886041251	missense variant	-	NC_000003.12:g.189868614C>T	-
TP63	Q9H3D4	p.Arg343Gln	RCV000655484	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189868615G>A	ClinVar
TP63	Q9H3D4	p.Arg343Gln	RCV000006908	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868615G>A	ClinVar
TP63	Q9H3D4	p.Arg343Trp	RCV000371222	missense variant	-	NC_000003.12:g.189868614C>T	ClinVar
TP63	Q9H3D4	p.Cys345Arg	RCV000006902	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868620T>C	ClinVar
TP63	Q9H3D4	p.Cys345Arg	rs121908837	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868620T>C	UniProt,dbSNP
TP63	Q9H3D4	p.Cys345Arg	VAR_020877	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868620T>C	UniProt
TP63	Q9H3D4	p.Cys345Arg	rs121908837	missense variant	-	NC_000003.12:g.189868620T>C	-
TP63	Q9H3D4	p.Ala346Gly	RCV000190455	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868624C>G	ClinVar
TP63	Q9H3D4	p.Ala346Gly	rs797044484	missense variant	-	NC_000003.12:g.189868624C>G	-
TP63	Q9H3D4	p.Ala346Ser	rs753928918	missense variant	-	NC_000003.12:g.189868623G>T	ExAC,gnomAD
TP63	Q9H3D4	p.Cys347Phe	RCV000481657	missense variant	-	NC_000003.12:g.189868627G>T	ClinVar
TP63	Q9H3D4	p.Cys347Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189868626T>A	NCI-TCGA
TP63	Q9H3D4	p.Cys347Phe	rs1064793282	missense variant	-	NC_000003.12:g.189868627G>T	-
TP63	Q9H3D4	p.Cys347Ser	VAR_032746	Missense	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]	-	UniProt
TP63	Q9H3D4	p.Pro348Leu	RCV000705867	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189868630C>T	ClinVar
TP63	Q9H3D4	p.Pro348Ser	VAR_032747	Missense	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]	-	UniProt
TP63	Q9H3D4	p.Gly349Ala	COSM4821036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189868633G>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Gly349Glu	rs866267914	missense variant	-	NC_000003.12:g.189868633G>A	-
TP63	Q9H3D4	p.Arg350Gly	RCV000413411	missense variant	-	NC_000003.12:g.189868635A>G	ClinVar
TP63	Q9H3D4	p.Arg350Gly	rs1057517985	missense variant	-	NC_000003.12:g.189868635A>G	-
TP63	Q9H3D4	p.Asp351Gly	RCV000326964	missense variant	-	NC_000003.12:g.189868639A>G	ClinVar
TP63	Q9H3D4	p.Asp351Gly	RCV000006915	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868639A>G	ClinVar
TP63	Q9H3D4	p.Asp351Gly	rs121908844	missense variant	-	NC_000003.12:g.189868639A>G	-
TP63	Q9H3D4	p.Asp351Gly	rs121908844	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868639A>G	UniProt,dbSNP
TP63	Q9H3D4	p.Asp351Gly	VAR_020878	missense variant	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)	NC_000003.12:g.189868639A>G	UniProt
TP63	Q9H3D4	p.Asp351His	VAR_032748	Missense	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292]	-	UniProt
TP63	Q9H3D4	p.Arg352Gly	RCV000006922	missense variant	Orofacial cleft 8	NC_000003.12:g.189868641A>G	ClinVar
TP63	Q9H3D4	p.Arg352Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189868642G>T	NCI-TCGA
TP63	Q9H3D4	p.Arg352Gly	RCV000194064	missense variant	ADULT syndrome	NC_000003.12:g.189868641A>G	ClinVar
TP63	Q9H3D4	p.Arg352Lys	rs779097193	missense variant	-	NC_000003.12:g.189868642G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Arg352Gly	rs121908847	missense variant	Orofacial cleft 8 (OFC8)	NC_000003.12:g.189868641A>G	UniProt,dbSNP
TP63	Q9H3D4	p.Arg352Gly	VAR_035127	missense variant	Orofacial cleft 8 (OFC8)	NC_000003.12:g.189868641A>G	UniProt
TP63	Q9H3D4	p.Arg352Gly	rs121908847	missense variant	-	NC_000003.12:g.189868641A>G	-
TP63	Q9H3D4	p.Ala354Val	COSM1670774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189868648C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Asp355Asn	RCV000655483	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189868650G>A	ClinVar
TP63	Q9H3D4	p.Asp355Asn	rs1553857889	missense variant	-	NC_000003.12:g.189868650G>A	-
TP63	Q9H3D4	p.Ser358Thr	rs1490291897	missense variant	-	NC_000003.12:g.189868660G>C	gnomAD
TP63	Q9H3D4	p.Ser358Gly	rs1290112962	missense variant	-	NC_000003.12:g.189868659A>G	gnomAD
TP63	Q9H3D4	p.Gln362His	rs780226587	missense variant	-	NC_000003.12:g.189868673G>C	ExAC,gnomAD
TP63	Q9H3D4	p.Gln363Lys	rs753643740	missense variant	-	NC_000003.12:g.189868674C>A	ExAC,gnomAD
TP63	Q9H3D4	p.Ser365Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.189868681C>A	NCI-TCGA
TP63	Q9H3D4	p.Ser365Leu	rs147148566	missense variant	-	NC_000003.12:g.189868681C>T	gnomAD
TP63	Q9H3D4	p.Ser365Trp	rs147148566	missense variant	-	NC_000003.12:g.189868681C>G	gnomAD
TP63	Q9H3D4	p.Ser367Thr	rs1160371550	missense variant	-	NC_000003.12:g.189868687G>C	gnomAD
TP63	Q9H3D4	p.Thr368Ala	rs201706554	missense variant	-	NC_000003.12:g.189868689A>G	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Lys369Asn	COSM1617306	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189868694G>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Lys369Arg	rs772847941	missense variant	-	NC_000003.12:g.189868693A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Asn370Thr	rs762783899	missense variant	-	NC_000003.12:g.189868696A>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Asn370Lys	rs375593834	missense variant	-	NC_000003.12:g.189868697C>A	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Asn370Ser	rs762783899	missense variant	-	NC_000003.12:g.189868696A>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gly371Ser	rs556383197	missense variant	-	NC_000003.12:g.189868698G>A	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Asp372Asn	rs1373411329	missense variant	-	NC_000003.12:g.189868701G>A	gnomAD
TP63	Q9H3D4	p.Thr374Met	rs199807776	missense variant	-	NC_000003.12:g.189868708C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg376Cys	rs757536818	missense variant	-	NC_000003.12:g.189868713C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg376His	rs143591434	missense variant	-	NC_000003.12:g.189868714G>A	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro377Leu	rs148052765	missense variant	-	NC_000003.12:g.189869324C>T	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro377ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.189869324C>-	NCI-TCGA
TP63	Q9H3D4	p.Pro377Ser	rs576449010	missense variant	-	NC_000003.12:g.189868716C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Phe378Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189869326T>G	NCI-TCGA
TP63	Q9H3D4	p.Arg379Cys	rs761885185	missense variant	-	NC_000003.12:g.189869329C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Arg379His	rs765502786	missense variant	-	NC_000003.12:g.189869330G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Asn381Ser	rs750431012	missense variant	-	NC_000003.12:g.189869336A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Thr382Ala	rs1489182283	missense variant	-	NC_000003.12:g.189869338A>G	gnomAD
TP63	Q9H3D4	p.His383Arg	rs763116801	missense variant	-	NC_000003.12:g.189869342A>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.His383Pro	rs763116801	missense variant	-	NC_000003.12:g.189869342A>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gln386Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189869351A>G	NCI-TCGA
TP63	Q9H3D4	p.Met387Ile	rs140374868	missense variant	-	NC_000003.12:g.189869355G>A	gnomAD
TP63	Q9H3D4	p.Thr388Ile	COSM1647620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189869357C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Thr388Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189869356A>C	NCI-TCGA
TP63	Q9H3D4	p.Ser389Phe	COSM3591197	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189869360C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ser389Thr	rs1338541237	missense variant	-	NC_000003.12:g.189869359T>A	TOPMed
TP63	Q9H3D4	p.Ile390Met	rs572233938	missense variant	-	NC_000003.12:g.189869364C>G	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Lys391Asn	COSM1042495	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189869367G>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg393Ter	RCV000422385	nonsense	-	NC_000003.12:g.189869371C>T	ClinVar
TP63	Q9H3D4	p.Arg393Ter	rs941268998	stop gained	-	NC_000003.12:g.189869371C>T	-
TP63	Q9H3D4	p.Arg393Gln	rs1173679499	missense variant	-	NC_000003.12:g.189869372G>A	gnomAD
TP63	Q9H3D4	p.Ser395Phe	rs1209841422	missense variant	-	NC_000003.12:g.189869378C>T	gnomAD
TP63	Q9H3D4	p.Pro396Leu	rs1038188765	missense variant	-	NC_000003.12:g.189869381C>T	TOPMed
TP63	Q9H3D4	p.Pro396Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189869380C>A	NCI-TCGA
TP63	Q9H3D4	p.Pro396Ala	rs752034733	missense variant	-	NC_000003.12:g.189869380C>G	ExAC,gnomAD
TP63	Q9H3D4	p.Asp397Gly	COSM3591203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189869384A>G	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Asp398Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189869386G>A	NCI-TCGA
TP63	Q9H3D4	p.Arg408Cys	rs1282887680	missense variant	-	NC_000003.12:g.189872868C>T	gnomAD
TP63	Q9H3D4	p.Arg408His	rs751698974	missense variant	-	NC_000003.12:g.189872869G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Glu409Asp	COSM1647619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189872873G>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Glu409Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189872871G>A	NCI-TCGA
TP63	Q9H3D4	p.Glu409Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189872873G>T	NCI-TCGA
TP63	Q9H3D4	p.Tyr411Phe	rs759975146	missense variant	-	NC_000003.12:g.189872878A>T	ExAC,gnomAD
TP63	Q9H3D4	p.Met413Ile	rs756520524	missense variant	-	NC_000003.12:g.189872885G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Met413Leu	rs752959726	missense variant	-	NC_000003.12:g.189872883A>T	ExAC,gnomAD
TP63	Q9H3D4	p.Ile417Val	rs1489154659	missense variant	-	NC_000003.12:g.189872895A>G	gnomAD
TP63	Q9H3D4	p.Lys418Arg	rs1219897178	missense variant	-	NC_000003.12:g.189872899A>G	gnomAD
TP63	Q9H3D4	p.Glu422Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.189872910G>T	NCI-TCGA
TP63	Q9H3D4	p.Met424Thr	rs1433363007	missense variant	-	NC_000003.12:g.189872917T>C	gnomAD
TP63	Q9H3D4	p.Gln425Glu	rs1458504566	missense variant	-	NC_000003.12:g.189872919C>G	gnomAD
TP63	Q9H3D4	p.Tyr426Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189872923A>T	NCI-TCGA
TP63	Q9H3D4	p.Pro428Ser	rs1361527608	missense variant	-	NC_000003.12:g.189872928C>T	gnomAD
TP63	Q9H3D4	p.Ile432Val	rs778551905	missense variant	-	NC_000003.12:g.189872940A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Glu433Gln	rs745376905	missense variant	-	NC_000003.12:g.189872943G>C	ExAC,gnomAD
TP63	Q9H3D4	p.Thr434Met	rs558374141	missense variant	-	NC_000003.12:g.189872947C>T	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Tyr435Cys	rs1302871830	missense variant	-	NC_000003.12:g.189872950A>G	gnomAD
TP63	Q9H3D4	p.Gln439Arg	rs1292967051	missense variant	-	NC_000003.12:g.189872962A>G	gnomAD
TP63	Q9H3D4	p.Gln440Glu	rs780062644	missense variant	-	NC_000003.12:g.189872964C>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gln441Arg	rs1327004251	missense variant	-	NC_000003.12:g.189872968A>G	TOPMed,gnomAD
TP63	Q9H3D4	p.Gln441Ter	rs200973739	stop gained	-	NC_000003.12:g.189872967C>T	1000Genomes
TP63	Q9H3D4	p.Leu447Phe	rs746969135	missense variant	-	NC_000003.12:g.189872985C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Gln448Pro	rs768470821	missense variant	-	NC_000003.12:g.189872989A>C	ExAC,gnomAD
TP63	Q9H3D4	p.Thr451Ser	rs747305746	missense variant	-	NC_000003.12:g.189886396C>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser452Ala	rs768589955	missense variant	-	NC_000003.12:g.189886398T>G	ExAC,gnomAD
TP63	Q9H3D4	p.Ile453Leu	rs781491083	missense variant	-	NC_000003.12:g.189886401A>T	ExAC,gnomAD
TP63	Q9H3D4	p.Ile453Val	rs781491083	missense variant	-	NC_000003.12:g.189886401A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Gln454Pro	rs748655741	missense variant	-	NC_000003.12:g.189886405A>C	ExAC,gnomAD
TP63	Q9H3D4	p.Ser455Phe	rs1490266183	missense variant	-	NC_000003.12:g.189886408C>T	gnomAD
TP63	Q9H3D4	p.Ser455Ala	rs770440796	missense variant	-	NC_000003.12:g.189886407T>G	ExAC,gnomAD
TP63	Q9H3D4	p.Pro456Leu	rs201479097	missense variant	-	NC_000003.12:g.189886411C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro456Ser	rs773649400	missense variant	-	NC_000003.12:g.189886410C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser457Pro	rs577715207	missense variant	-	NC_000003.12:g.189886413T>C	1000Genomes,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser457Thr	rs577715207	missense variant	-	NC_000003.12:g.189886413T>A	1000Genomes,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser458Leu	COSM3591212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189886417C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ser458Thr	rs1237515956	missense variant	-	NC_000003.12:g.189886416T>A	gnomAD
TP63	Q9H3D4	p.Ser462Asn	rs147181964	missense variant	-	NC_000003.12:g.189886429G>A	ESP,ExAC,gnomAD
TP63	Q9H3D4	p.Pro464Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189886435C>T	NCI-TCGA
TP63	Q9H3D4	p.Pro465Leu	rs775037738	missense variant	-	NC_000003.12:g.189886438C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Leu466Pro	rs760545564	missense variant	-	NC_000003.12:g.189886441T>C	ExAC,gnomAD
TP63	Q9H3D4	p.Asn467Ser	rs369453583	missense variant	-	NC_000003.12:g.189886444A>G	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met469Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189886451G>A	NCI-TCGA
TP63	Q9H3D4	p.Ser471Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189886455A>G	NCI-TCGA
TP63	Q9H3D4	p.Ser471Asn	rs756980788	missense variant	-	NC_000003.12:g.189886456G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Met472Thr	COSM4116023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189886459T>C	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Met472Ile	rs755205138	missense variant	-	NC_000003.12:g.189886460G>T	gnomAD
TP63	Q9H3D4	p.Pro476Thr	rs1449641939	missense variant	-	NC_000003.12:g.189886470C>A	gnomAD
TP63	Q9H3D4	p.Leu481Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189886486T>C	NCI-TCGA
TP63	Q9H3D4	p.Leu481Phe	rs1160791687	missense variant	-	NC_000003.12:g.189886485C>T	TOPMed
TP63	Q9H3D4	p.Asn483Ser	rs992044215	missense variant	-	NC_000003.12:g.189886492A>G	TOPMed,gnomAD
TP63	Q9H3D4	p.Pro484Thr	rs751728506	missense variant	-	NC_000003.12:g.189886494C>A	ExAC,gnomAD
TP63	Q9H3D4	p.Arg487His	rs781366519	missense variant	-	NC_000003.12:g.189886504G>A	NCI-TCGA
TP63	Q9H3D4	p.Arg487Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189886503C>A	NCI-TCGA
TP63	Q9H3D4	p.Arg487His	rs781366519	missense variant	-	NC_000003.12:g.189886504G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Arg487Pro	rs781366519	missense variant	-	NC_000003.12:g.189886504G>C	ExAC,gnomAD
TP63	Q9H3D4	p.Arg487Cys	rs777306829	missense variant	-	NC_000003.12:g.189886503C>T	NCI-TCGA
TP63	Q9H3D4	p.Arg487Cys	rs777306829	missense variant	-	NC_000003.12:g.189886503C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Asn488Lys	rs756653133	missense variant	-	NC_000003.12:g.189886508C>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ala489Thr	rs138832017	missense variant	-	NC_000003.12:g.189886509G>A	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ala489Thr	rs138832017	missense variant	-	NC_000003.12:g.189886509G>A	NCI-TCGA,NCI-TCGA Cosmic
TP63	Q9H3D4	p.Leu490Phe	rs559082753	missense variant	-	NC_000003.12:g.189886512C>T	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Thr491Ile	rs1180417806	missense variant	-	NC_000003.12:g.189886516C>T	gnomAD
TP63	Q9H3D4	p.Pro492Ser	COSM3408516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189886518C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Pro492Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189886518C>G	NCI-TCGA
TP63	Q9H3D4	p.Pro492Thr	rs1241133005	missense variant	-	NC_000003.12:g.189886518C>A	gnomAD
TP63	Q9H3D4	p.Thr493Ala	rs774842245	missense variant	-	NC_000003.12:g.189886521A>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Thr494Ala	rs200203171	missense variant	-	NC_000003.12:g.189886524A>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Thr494Ile	rs910252082	missense variant	-	NC_000003.12:g.189886525C>T	TOPMed
TP63	Q9H3D4	p.Ile495Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189886529T>G	NCI-TCGA
TP63	Q9H3D4	p.Ile495Val	rs373849345	missense variant	-	NC_000003.12:g.189886527A>G	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro496Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189886530C>T	NCI-TCGA
TP63	Q9H3D4	p.Met499Ile	rs267599730	missense variant	-	NC_000003.12:g.189886541G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met499Ile	rs267599730	missense variant	-	NC_000003.12:g.189886541G>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gly500Glu	rs763644058	missense variant	-	NC_000003.12:g.189886543G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Asn502Ser	rs761878600	missense variant	-	NC_000003.12:g.189886549A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Pro504Leu	rs768151007	missense variant	-	NC_000003.12:g.189889343C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Met505Val	rs183154960	missense variant	-	NC_000003.12:g.189889345A>G	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met505Ile	rs761599169	missense variant	-	NC_000003.12:g.189889347G>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met506Ile	rs1419776229	missense variant	-	NC_000003.12:g.189889350G>A	TOPMed
TP63	Q9H3D4	p.Gly507Ser	rs1394017323	missense variant	-	NC_000003.12:g.189889351G>A	TOPMed
TP63	Q9H3D4	p.Thr508Ile	rs1487186623	missense variant	-	NC_000003.12:g.189889355C>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Met510Leu	rs769778189	missense variant	-	NC_000003.12:g.189889360A>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met510Ile	rs200578530	missense variant	-	NC_000003.12:g.189889362G>A	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met510Val	rs769778189	missense variant	-	NC_000003.12:g.189889360A>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met510Ile	rs200578530	missense variant	-	NC_000003.12:g.189889362G>T	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro511Thr	RCV000399267	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000003.12:g.189889363C>A	ClinVar
TP63	Q9H3D4	p.Pro511Thr	RCV000296599	missense variant	Ectrodactyly	NC_000003.12:g.189889363C>A	ClinVar
TP63	Q9H3D4	p.Pro511Thr	rs148076109	missense variant	-	NC_000003.12:g.189889363C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro511Thr	RCV000351504	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189889363C>A	ClinVar
TP63	Q9H3D4	p.Pro511Thr	RCV000384210	missense variant	-	NC_000003.12:g.189889363C>A	ClinVar
TP63	Q9H3D4	p.Met512Val	rs1261217150	missense variant	-	NC_000003.12:g.189889366A>G	TOPMed
TP63	Q9H3D4	p.Ala513Pro	rs1196701463	missense variant	-	NC_000003.12:g.189889369G>C	gnomAD
TP63	Q9H3D4	p.Asn517Asp	rs1376568738	missense variant	-	NC_000003.12:g.189889381A>G	gnomAD
TP63	Q9H3D4	p.Gly518Glu	RCV000498637	missense variant	-	NC_000003.12:g.189889385G>A	ClinVar
TP63	Q9H3D4	p.Gly518Glu	rs1478677560	missense variant	-	NC_000003.12:g.189889385G>A	gnomAD
TP63	Q9H3D4	p.Leu519Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189889387C>G	NCI-TCGA
TP63	Q9H3D4	p.Pro521Ala	rs1406340341	missense variant	-	NC_000003.12:g.189889393C>G	gnomAD
TP63	Q9H3D4	p.Thr522Ile	rs928205074	missense variant	-	NC_000003.12:g.189889397C>T	TOPMed
TP63	Q9H3D4	p.Gln523Lys	rs1299137177	missense variant	-	NC_000003.12:g.189889399C>A	gnomAD
TP63	Q9H3D4	p.Gln523Pro	rs1362748295	missense variant	-	NC_000003.12:g.189889400A>C	gnomAD
TP63	Q9H3D4	p.Ala524Thr	rs1403304957	missense variant	-	NC_000003.12:g.189889402G>A	gnomAD
TP63	Q9H3D4	p.Leu525His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189889406T>A	NCI-TCGA
TP63	Q9H3D4	p.Leu525Phe	rs1323039634	missense variant	-	NC_000003.12:g.189889405C>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Pro526Ser	rs1438616472	missense variant	-	NC_000003.12:g.189889408C>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Pro526Leu	rs1276572584	missense variant	-	NC_000003.12:g.189889409C>T	gnomAD
TP63	Q9H3D4	p.Pro527Leu	COSM4116025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189889412C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Pro527Thr	rs1239219693	missense variant	-	NC_000003.12:g.189889411C>A	gnomAD
TP63	Q9H3D4	p.Pro528Gln	rs761041436	missense variant	-	NC_000003.12:g.189889415C>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro528Leu	rs761041436	missense variant	-	NC_000003.12:g.189889415C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Leu529Phe	rs576082435	missense variant	-	NC_000003.12:g.189889417C>T	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Ser530Pro	rs757636242	missense variant	-	NC_000003.12:g.189889420T>C	ExAC,gnomAD
TP63	Q9H3D4	p.Ser530Phe	rs1200324125	missense variant	-	NC_000003.12:g.189889421C>T	gnomAD
TP63	Q9H3D4	p.Met531IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.189889425G>-	NCI-TCGA
TP63	Q9H3D4	p.Met531Ile	rs1439603831	missense variant	-	NC_000003.12:g.189889425G>A	gnomAD
TP63	Q9H3D4	p.Pro532Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189889427C>T	NCI-TCGA
TP63	Q9H3D4	p.Pro532Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189889426C>T	NCI-TCGA
TP63	Q9H3D4	p.Ser533Phe	rs1360624743	missense variant	-	NC_000003.12:g.189889430C>T	gnomAD
TP63	Q9H3D4	p.Ser533Pro	rs1400284164	missense variant	-	NC_000003.12:g.189889429T>C	TOPMed
TP63	Q9H3D4	p.Ser535Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189889436C>T	NCI-TCGA
TP63	Q9H3D4	p.Thr538Ala	rs565094952	missense variant	-	NC_000003.12:g.189889444A>G	1000Genomes,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Pro539Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189889447C>T	NCI-TCGA
TP63	Q9H3D4	p.Pro542Leu	rs1374623968	missense variant	-	NC_000003.12:g.189889457C>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Tyr543Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189889460A>T	NCI-TCGA
TP63	Q9H3D4	p.Asp546Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189889468G>A	NCI-TCGA
TP63	Q9H3D4	p.Cys547Trp	rs773183774	missense variant	-	NC_000003.12:g.189889473C>G	ExAC,gnomAD
TP63	Q9H3D4	p.Ile549Thr	RCV000006918	missense variant	Hay-Wells syndrome of ectodermal dysplasia (AEC)	NC_000003.12:g.189889478T>C	ClinVar
TP63	Q9H3D4	p.Ile549Thr	RCV000006919	missense variant	Rapp-Hodgkin ectodermal dysplasia syndrome (RHS)	NC_000003.12:g.189889478T>C	ClinVar
TP63	Q9H3D4	p.Ile549Thr	rs121908845	missense variant	-	NC_000003.12:g.189889478T>C	-
TP63	Q9H3D4	p.Ile549Thr	rs121908845	missense variant	Rapp-Hodgkin syndrome (RHS)	NC_000003.12:g.189889478T>C	UniProt,dbSNP
TP63	Q9H3D4	p.Ile549Thr	VAR_035128	missense variant	Rapp-Hodgkin syndrome (RHS)	NC_000003.12:g.189889478T>C	UniProt
TP63	Q9H3D4	p.Val550Ile	rs1488761159	missense variant	-	NC_000003.12:g.189889480G>A	TOPMed
TP63	Q9H3D4	p.Ser551Gly	rs770841605	missense variant	-	NC_000003.12:g.189889483A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Phe552Cys	RCV000255981	missense variant	-	NC_000003.12:g.189890791T>G	ClinVar
TP63	Q9H3D4	p.Phe552Leu	COSM3427443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189890792C>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Phe552Leu	rs1340744193	missense variant	-	NC_000003.12:g.189890790T>C	gnomAD
TP63	Q9H3D4	p.Phe552Cys	rs886039443	missense variant	-	NC_000003.12:g.189890791T>G	-
TP63	Q9H3D4	p.Leu553Phe	RCV000006909	missense variant	Hay-Wells syndrome of ectodermal dysplasia (AEC)	NC_000003.12:g.189890795A>T	ClinVar
TP63	Q9H3D4	p.Leu553Ile	COSM4116027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189890793T>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Leu553Phe	rs121908842	missense variant	-	NC_000003.12:g.189890795A>T	-
TP63	Q9H3D4	p.Leu553Phe	rs121908842	missense variant	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)	NC_000003.12:g.189890795A>T	UniProt,dbSNP
TP63	Q9H3D4	p.Leu553Phe	VAR_020879	missense variant	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)	NC_000003.12:g.189890795A>T	UniProt
TP63	Q9H3D4	p.Ala554Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189890796G>T	NCI-TCGA
TP63	Q9H3D4	p.Ala554Val	rs747808524	missense variant	-	NC_000003.12:g.189890797C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg555Lys	COSM3591220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189890800G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg555Trp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189890799A>T	NCI-TCGA
TP63	Q9H3D4	p.Ser560Ala	VAR_020880	Missense	-	-	UniProt
TP63	Q9H3D4	p.Cys561Gly	rs121908843	missense variant	-	NC_000003.12:g.189890817T>G	-
TP63	Q9H3D4	p.Cys561Gly	rs121908843	missense variant	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)	NC_000003.12:g.189890817T>G	UniProt,dbSNP
TP63	Q9H3D4	p.Cys561Gly	VAR_020881	missense variant	Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)	NC_000003.12:g.189890817T>G	UniProt
TP63	Q9H3D4	p.Cys561Gly	RCV000006910	missense variant	Hay-Wells syndrome of ectodermal dysplasia (AEC)	NC_000003.12:g.189890817T>G	ClinVar
TP63	Q9H3D4	p.Cys561Tyr	RCV000414275	missense variant	-	NC_000003.12:g.189890818G>A	ClinVar
TP63	Q9H3D4	p.Cys561Tyr	rs1057518399	missense variant	-	NC_000003.12:g.189890818G>A	-
TP63	Q9H3D4	p.Leu562Arg	rs774221257	missense variant	-	NC_000003.12:g.189890821T>G	ExAC,gnomAD
TP63	Q9H3D4	p.Phe565Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189890830T>G	NCI-TCGA
TP63	Q9H3D4	p.Thr566Met	rs745687224	missense variant	-	NC_000003.12:g.189890833C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Thr571Ile	rs1423103383	missense variant	-	NC_000003.12:g.189890848C>T	gnomAD
TP63	Q9H3D4	p.Ile573Val	rs143884625	missense variant	-	NC_000003.12:g.189890853A>G	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Tyr574Cys	rs1172845743	missense variant	-	NC_000003.12:g.189890857A>G	gnomAD
TP63	Q9H3D4	p.Gln575Ter	COSM4820675	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.189890859C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Gln575His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189890861G>C	NCI-TCGA
TP63	Q9H3D4	p.Gln575Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189890859C>G	NCI-TCGA
TP63	Q9H3D4	p.Ile576Thr	RCV000534217	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189890863T>C	ClinVar
TP63	Q9H3D4	p.Ile576Thr	RCV000413999	missense variant	-	NC_000003.12:g.189890863T>C	ClinVar
TP63	Q9H3D4	p.Ile576Thr	rs1057517841	missense variant	-	NC_000003.12:g.189890863T>C	-
TP63	Q9H3D4	p.Ser580Pro	RCV000006920	missense variant	Rapp-Hodgkin ectodermal dysplasia syndrome (RHS)	NC_000003.12:g.189890874T>C	ClinVar
TP63	Q9H3D4	p.Ser580Pro	rs121908846	missense variant	-	NC_000003.12:g.189890874T>C	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser580Pro	rs121908846	missense variant	Rapp-Hodgkin syndrome (RHS)	NC_000003.12:g.189890874T>C	UniProt,dbSNP
TP63	Q9H3D4	p.Ser580Pro	VAR_035129	missense variant	Rapp-Hodgkin syndrome (RHS)	NC_000003.12:g.189890874T>C	UniProt
TP63	Q9H3D4	p.Ser580Phe	rs1464459460	missense variant	-	NC_000003.12:g.189890875C>T	gnomAD
TP63	Q9H3D4	p.Ser580Ala	rs121908846	missense variant	-	NC_000003.12:g.189890874T>G	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Met581Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189890879G>T	NCI-TCGA
TP63	Q9H3D4	p.Met581Ile	rs1402630316	missense variant	-	NC_000003.12:g.189890879G>A	gnomAD
TP63	Q9H3D4	p.Met581Val	rs1302119410	missense variant	-	NC_000003.12:g.189890877A>G	gnomAD
TP63	Q9H3D4	p.Asp582Asn	rs865905084	missense variant	-	NC_000003.12:g.189890880G>A	-
TP63	Q9H3D4	p.Asp583Asn	COSM1693955	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894206G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Asp583Val	COSM1042498	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894207A>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Leu584Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189894210T>G	NCI-TCGA
TP63	Q9H3D4	p.Ala585Thr	rs1271173174	missense variant	-	NC_000003.12:g.189894212G>A	TOPMed
TP63	Q9H3D4	p.Lys588Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189894222A>T	NCI-TCGA
TP63	Q9H3D4	p.Lys588Glu	rs1156585844	missense variant	-	NC_000003.12:g.189894221A>G	gnomAD
TP63	Q9H3D4	p.Phe593Leu	rs748345687	missense variant	-	NC_000003.12:g.189894238T>A	ExAC,gnomAD
TP63	Q9H3D4	p.Arg594Ter	RCV000766166	nonsense	-	NC_000003.12:g.189894239C>T	ClinVar
TP63	Q9H3D4	p.Arg594Gln	rs368336834	missense variant	-	NC_000003.12:g.189894240G>A	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ala596Val	rs773237715	missense variant	-	NC_000003.12:g.189894246C>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Trp598Ter	RCV000766167	nonsense	-	NC_000003.12:g.189894253G>A	ClinVar
TP63	Q9H3D4	p.Gly600Asp	rs1553863660	missense variant	-	NC_000003.12:g.189894258G>A	-
TP63	Q9H3D4	p.Gly600Asp	RCV000655482	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189894258G>A	ClinVar
TP63	Q9H3D4	p.Leu602Gln	rs760032006	missense variant	-	NC_000003.12:g.189894264T>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Leu602Pro	rs760032006	missense variant	-	NC_000003.12:g.189894264T>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Leu602Pro	RCV000422824	missense variant	-	NC_000003.12:g.189894264T>C	ClinVar
TP63	Q9H3D4	p.Asp603His	rs767906723	missense variant	-	NC_000003.12:g.189894266G>C	UniProt,dbSNP
TP63	Q9H3D4	p.Asp603His	VAR_035130	missense variant	-	NC_000003.12:g.189894266G>C	UniProt
TP63	Q9H3D4	p.Asp603His	rs767906723	missense variant	-	NC_000003.12:g.189894266G>C	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg605Trp	rs777373892	missense variant	-	NC_000003.12:g.189894272C>T	TOPMed
TP63	Q9H3D4	p.Arg605Gln	rs142981128	missense variant	-	NC_000003.12:g.189894273G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gln606His	rs978972833	missense variant	-	NC_000003.12:g.189894277G>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Gln606His	rs978972833	missense variant	-	NC_000003.12:g.189894277G>C	TOPMed,gnomAD
TP63	Q9H3D4	p.Leu607Pro	rs1440083511	missense variant	-	NC_000003.12:g.189894279T>C	TOPMed
TP63	Q9H3D4	p.Leu607Pro	RCV000497551	missense variant	-	NC_000003.12:g.189894279T>C	ClinVar
TP63	Q9H3D4	p.His608ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.189894278_189894291CTCCACGAATTCTC>-	NCI-TCGA
TP63	Q9H3D4	p.His608Gln	rs755722537	missense variant	-	NC_000003.12:g.189894283C>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Glu609Lys	rs142762485	missense variant	-	NC_000003.12:g.189894284G>A	-
TP63	Q9H3D4	p.Phe610Cys	rs753348806	missense variant	-	NC_000003.12:g.189894288T>G	ExAC
TP63	Q9H3D4	p.Phe610Leu	rs957895088	missense variant	-	NC_000003.12:g.189894289C>A	TOPMed
TP63	Q9H3D4	p.Pro613Leu	rs1191791499	missense variant	-	NC_000003.12:g.189894297C>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Pro613Ter	RCV000174740	frameshift	-	NC_000003.12:g.189894296_189894300del	ClinVar
TP63	Q9H3D4	p.His615Tyr	COSM3915566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894302C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.His615Pro	rs758920087	missense variant	-	NC_000003.12:g.189894303A>C	gnomAD
TP63	Q9H3D4	p.His615Arg	rs758920087	missense variant	-	NC_000003.12:g.189894303A>G	gnomAD
TP63	Q9H3D4	p.Leu616Ter	RCV000032228	frameshift	ADULT syndrome	NC_000003.12:g.189894305del	ClinVar
TP63	Q9H3D4	p.Arg618Trp	rs1455505991	missense variant	-	NC_000003.12:g.189894311C>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Arg618Gln	rs778606951	missense variant	-	NC_000003.12:g.189894312G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser621Gly	rs1379436019	missense variant	-	NC_000003.12:g.189894320A>G	TOPMed,gnomAD
TP63	Q9H3D4	p.Ser622Arg	rs750361205	missense variant	-	NC_000003.12:g.189894325T>G	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Val626Gly	rs372318389	missense variant	-	NC_000003.12:g.189894336T>G	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Ser627Asn	rs1293584292	missense variant	-	NC_000003.12:g.189894339G>A	gnomAD
TP63	Q9H3D4	p.Ser627Gly	rs575345871	missense variant	-	NC_000003.12:g.189894338A>G	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Gly629Cys	COSM6097347	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894344G>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Gly629Ser	rs769956674	missense variant	-	NC_000003.12:g.189894344G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Ser630Cys	COSM3846996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894348C>G	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ser630Phe	COSM3591241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894348C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Ser630Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189894348C>A	NCI-TCGA
TP63	Q9H3D4	p.Ser631Ile	rs1445213116	missense variant	-	NC_000003.12:g.189894351G>T	gnomAD
TP63	Q9H3D4	p.Ser631Gly	rs1475677742	missense variant	-	NC_000003.12:g.189894350A>G	TOPMed
TP63	Q9H3D4	p.Glu632Lys	COSM4991909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894353G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Thr633Asn	rs1411272519	missense variant	-	NC_000003.12:g.189894357C>A	TOPMed
TP63	Q9H3D4	p.Thr633Ala	rs777952899	missense variant	-	NC_000003.12:g.189894356A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Arg634Gln	rs921649285	missense variant	-	NC_000003.12:g.189894360G>A	gnomAD
TP63	Q9H3D4	p.Arg634Trp	rs1283807013	missense variant	-	NC_000003.12:g.189894359C>T	TOPMed,gnomAD
TP63	Q9H3D4	p.Gly635Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189894363G>T	NCI-TCGA
TP63	Q9H3D4	p.Gly635ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.189894360G>-	NCI-TCGA
TP63	Q9H3D4	p.Gly635Ser	rs1242688206	missense variant	-	NC_000003.12:g.189894362G>A	TOPMed,gnomAD
TP63	Q9H3D4	p.Glu636Ala	rs376926686	missense variant	-	NC_000003.12:g.189894366A>C	ESP,ExAC,gnomAD
TP63	Q9H3D4	p.Arg637Cys	COSM1042501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894368C>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg637His	rs770997588	missense variant	-	NC_000003.12:g.189894369G>A	ExAC,gnomAD
TP63	Q9H3D4	p.Val638Ile	rs1267295503	missense variant	-	NC_000003.12:g.189894371G>A	TOPMed,gnomAD
TP63	Q9H3D4	p.Ala641Val	RCV000485320	missense variant	-	NC_000003.12:g.189894381C>T	ClinVar
TP63	Q9H3D4	p.Ala641Val	rs1064793283	missense variant	-	NC_000003.12:g.189894381C>T	-
TP63	Q9H3D4	p.Arg643Ter	RCV000760773	nonsense	-	NC_000003.12:g.189894386C>T	ClinVar
TP63	Q9H3D4	p.Arg643Gln	COSM1327656	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894387G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Phe644Leu	rs760026775	missense variant	-	NC_000003.12:g.189894389T>C	ExAC,gnomAD
TP63	Q9H3D4	p.Thr645Ala	rs1176713026	missense variant	-	NC_000003.12:g.189894392A>G	gnomAD
TP63	Q9H3D4	p.Leu646Val	COSM3591244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894395C>G	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Arg647Cys	rs1051829008	missense variant	-	NC_000003.12:g.189894398C>T	TOPMed
TP63	Q9H3D4	p.Thr649Ile	rs772458842	missense variant	-	NC_000003.12:g.189894405C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Ile650Val	rs140149400	missense variant	-	NC_000003.12:g.189894407A>G	ESP
TP63	Q9H3D4	p.Ile650Met	rs1023563516	missense variant	-	NC_000003.12:g.189894409C>G	TOPMed
TP63	Q9H3D4	p.Arg655Ter	RCV000195096	frameshift	ADULT syndrome	NC_000003.12:g.189894422del	ClinVar
TP63	Q9H3D4	p.Arg655Gln	rs764601563	missense variant	-	NC_000003.12:g.189894423G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg655Gly	rs760967074	missense variant	-	NC_000003.12:g.189894422C>G	ExAC,gnomAD
TP63	Q9H3D4	p.Glu657Asp	COSM6164326	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894430G>T	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Glu657Gly	rs1213873148	missense variant	-	NC_000003.12:g.189894429A>G	TOPMed
TP63	Q9H3D4	p.Trp658Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.189894433G>A	NCI-TCGA
TP63	Q9H3D4	p.Asp660Asn	rs1164945219	missense variant	-	NC_000003.12:g.189894437G>A	gnomAD
TP63	Q9H3D4	p.Asn662Asp	rs544216571	missense variant	-	NC_000003.12:g.189894443A>G	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Asn662Ser	rs761624304	missense variant	-	NC_000003.12:g.189894444A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Met665Arg	RCV000268805	missense variant	Cleft Lip +/- Cleft Palate, Autosomal Dominant	NC_000003.12:g.189894453T>G	ClinVar
TP63	Q9H3D4	p.Met665Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189894452A>G	NCI-TCGA
TP63	Q9H3D4	p.Met665Arg	RCV000387704	missense variant	TP63-Related Spectrum Disorders	NC_000003.12:g.189894453T>G	ClinVar
TP63	Q9H3D4	p.Met665Arg	RCV000333254	missense variant	Ectrodactyly	NC_000003.12:g.189894453T>G	ClinVar
TP63	Q9H3D4	p.Met665Arg	rs886058223	missense variant	-	NC_000003.12:g.189894453T>G	-
TP63	Q9H3D4	p.Arg668Cys	rs749906547	missense variant	-	NC_000003.12:g.189894461C>T	ExAC,gnomAD
TP63	Q9H3D4	p.Arg668His	rs758317410	missense variant	-	NC_000003.12:g.189894462G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg669Cys	rs143676789	missense variant	-	NC_000003.12:g.189894464C>T	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg669His	rs369266838	missense variant	-	NC_000003.12:g.189894465G>A	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Asn670His	rs754740287	missense variant	-	NC_000003.12:g.189894467A>C	ExAC,gnomAD
TP63	Q9H3D4	p.Asn670Ser	rs781036753	missense variant	-	NC_000003.12:g.189894468A>G	ExAC,gnomAD
TP63	Q9H3D4	p.Lys671Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.189894470A>G	NCI-TCGA
TP63	Q9H3D4	p.Lys671Asn	rs564216332	missense variant	-	NC_000003.12:g.189894472G>C	1000Genomes,ExAC,gnomAD
TP63	Q9H3D4	p.Gln672Arg	rs1257372320	missense variant	-	NC_000003.12:g.189894474A>G	gnomAD
TP63	Q9H3D4	p.Arg674His	rs34713855	missense variant	-	NC_000003.12:g.189894480G>A	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg674Leu	rs34713855	missense variant	-	NC_000003.12:g.189894480G>T	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Arg674Cys	rs972760958	missense variant	-	NC_000003.12:g.189894479C>T	gnomAD
TP63	Q9H3D4	p.Arg674Pro	rs34713855	missense variant	-	NC_000003.12:g.189894480G>C	ESP,ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Glu677Lys	COSM3591252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.189894488G>A	NCI-TCGA Cosmic
TP63	Q9H3D4	p.Glu677Gln	rs772579873	missense variant	-	NC_000003.12:g.189894488G>C	ExAC,gnomAD
TP63	Q9H3D4	p.Gly679Arg	rs761305330	missense variant	-	NC_000003.12:g.189894494G>A	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Gly679Trp	rs761305330	missense variant	-	NC_000003.12:g.189894494G>T	ExAC,TOPMed,gnomAD
TP63	Q9H3D4	p.Glu680Asp	rs1039227920	missense variant	-	NC_000003.12:g.189894499G>C	TOPMed
TP63	Q9H3D4	p.Ter681Leu	rs777148748	stop lost	-	NC_000003.12:g.189894501G>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Ala2Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38724728G>A	NCI-TCGA
SLC32A1	Q9H598	p.Thr3Asn	rs757775261	missense variant	-	NC_000020.11:g.38724732C>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Leu4Phe	rs779446777	missense variant	-	NC_000020.11:g.38724736G>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Leu5Ile	rs746574042	missense variant	-	NC_000020.11:g.38724737C>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Arg6Cys	rs776050127	missense variant	-	NC_000020.11:g.38724740C>T	NCI-TCGA,NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Arg6Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38724740C>A	NCI-TCGA
SLC32A1	Q9H598	p.Arg6His	rs376758221	missense variant	-	NC_000020.11:g.38724741G>A	ESP,TOPMed,gnomAD
SLC32A1	Q9H598	p.Arg6Leu	rs376758221	missense variant	-	NC_000020.11:g.38724741G>T	ESP,TOPMed,gnomAD
SLC32A1	Q9H598	p.Arg6Cys	rs776050127	missense variant	-	NC_000020.11:g.38724740C>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Lys8Glu	rs1327082135	missense variant	-	NC_000020.11:g.38724746A>G	gnomAD
SLC32A1	Q9H598	p.Asn11ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.38724753C>-	NCI-TCGA
SLC32A1	Q9H598	p.Val12Met	rs747808159	missense variant	-	NC_000020.11:g.38724758G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Ala13Val	rs1373584121	missense variant	-	NC_000020.11:g.38724762C>T	gnomAD
SLC32A1	Q9H598	p.Val16Leu	rs1271036386	missense variant	-	NC_000020.11:g.38724770G>C	gnomAD
SLC32A1	Q9H598	p.Ser17Phe	rs1336592004	missense variant	-	NC_000020.11:g.38724774C>T	gnomAD
SLC32A1	Q9H598	p.Asn18Lys	rs894838964	missense variant	-	NC_000020.11:g.38724778C>G	TOPMed
SLC32A1	Q9H598	p.Ala22Val	rs977047799	missense variant	-	NC_000020.11:g.38724789C>T	TOPMed,gnomAD
SLC32A1	Q9H598	p.Ala22Thr	rs769470578	missense variant	-	NC_000020.11:g.38724788G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Met24Ile	rs772946332	missense variant	-	NC_000020.11:g.38724796G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly26Ser	rs762777530	missense variant	-	NC_000020.11:g.38724800G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly26Val	rs766274199	missense variant	-	NC_000020.11:g.38724801G>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Met27Ile	rs774450761	missense variant	-	NC_000020.11:g.38724805G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Met27Val	rs1234723662	missense variant	-	NC_000020.11:g.38724803A>G	TOPMed,gnomAD
SLC32A1	Q9H598	p.Ala29Ser	rs759507627	missense variant	-	NC_000020.11:g.38724809G>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Met31Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38724816T>A	NCI-TCGA
SLC32A1	Q9H598	p.Met31Ile	rs966485237	missense variant	-	NC_000020.11:g.38724817G>A	TOPMed
SLC32A1	Q9H598	p.Gly32Ser	rs1415955522	missense variant	-	NC_000020.11:g.38724818G>A	gnomAD
SLC32A1	Q9H598	p.Gln34Ter	COSM3799522	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.38724824C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala35Glu	rs1164217464	missense variant	-	NC_000020.11:g.38724828C>A	gnomAD
SLC32A1	Q9H598	p.Thr37Ala	rs752767012	missense variant	-	NC_000020.11:g.38724833A>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Thr37Met	rs780236153	missense variant	-	NC_000020.11:g.38724834C>T	TOPMed,gnomAD
SLC32A1	Q9H598	p.Thr37Lys	rs780236153	missense variant	-	NC_000020.11:g.38724834C>A	TOPMed,gnomAD
SLC32A1	Q9H598	p.Asp38Gly	rs764377141	missense variant	-	NC_000020.11:g.38724837A>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Glu39Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38724839G>A	NCI-TCGA
SLC32A1	Q9H598	p.Glu39Gly	rs201398803	missense variant	-	NC_000020.11:g.38724840A>G	ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Glu40Lys	COSM3546232	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38724842G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala41Val	rs757622373	missense variant	-	NC_000020.11:g.38724846C>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Val42Leu	rs1233632821	missense variant	-	NC_000020.11:g.38724848G>T	gnomAD
SLC32A1	Q9H598	p.Phe44Leu	rs1337342975	missense variant	-	NC_000020.11:g.38724856C>A	gnomAD
SLC32A1	Q9H598	p.Ala45Val	COSM4727128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38724858C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.His46Arg	rs1323079141	missense variant	-	NC_000020.11:g.38724861A>G	gnomAD
SLC32A1	Q9H598	p.Asp48Asn	COSM270789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38724866G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Leu50Val	rs1275197837	missense variant	-	NC_000020.11:g.38724872C>G	gnomAD
SLC32A1	Q9H598	p.Asp51Gly	rs1324797313	missense variant	-	NC_000020.11:g.38724876A>G	TOPMed,gnomAD
SLC32A1	Q9H598	p.Glu53Ala	rs758842716	missense variant	-	NC_000020.11:g.38724882A>C	ExAC,gnomAD
SLC32A1	Q9H598	p.Arg55Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38724887C>A	NCI-TCGA
SLC32A1	Q9H598	p.Arg55Leu	rs1255607270	missense variant	-	NC_000020.11:g.38724888G>T	gnomAD
SLC32A1	Q9H598	p.Gln56Leu	rs1430070291	missense variant	-	NC_000020.11:g.38724891A>T	gnomAD
SLC32A1	Q9H598	p.Gly57Asp	rs769370986	missense variant	-	NC_000020.11:g.38724894G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly57Val	rs769370986	missense variant	-	NC_000020.11:g.38724894G>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gln59Arg	rs772898796	missense variant	-	NC_000020.11:g.38724900A>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Asp61His	rs1474713163	missense variant	-	NC_000020.11:g.38724905G>C	gnomAD
SLC32A1	Q9H598	p.Lys64Glu	rs918705697	missense variant	-	NC_000020.11:g.38724914A>G	TOPMed,gnomAD
SLC32A1	Q9H598	p.Ala65Thr	rs1391341786	missense variant	-	NC_000020.11:g.38724917G>A	TOPMed,gnomAD
SLC32A1	Q9H598	p.Glu66Lys	COSM5076620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38724920G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Glu66Asp	rs1433508942	missense variant	-	NC_000020.11:g.38724922G>C	gnomAD
SLC32A1	Q9H598	p.Gly67Glu	rs748843338	missense variant	-	NC_000020.11:g.38724924G>A	NCI-TCGA,NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Gly67Glu	rs748843338	missense variant	-	NC_000020.11:g.38724924G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Gly67Arg	rs1165613944	missense variant	-	NC_000020.11:g.38724923G>C	TOPMed
SLC32A1	Q9H598	p.Glu68Lys	rs770789897	missense variant	-	NC_000020.11:g.38724926G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Pro69Ser	rs1396298373	missense variant	-	NC_000020.11:g.38724929C>T	TOPMed,gnomAD
SLC32A1	Q9H598	p.Asp72Glu	rs759562550	missense variant	-	NC_000020.11:g.38724940C>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Glu73Lys	rs775782051	missense variant	-	NC_000020.11:g.38724941G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Glu73Gln	rs775782051	missense variant	-	NC_000020.11:g.38724941G>C	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Glu73Lys	rs775782051	missense variant	-	NC_000020.11:g.38724941G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly74Asp	rs1483624176	missense variant	-	NC_000020.11:g.38724945G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Gly74GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.38724943_38724964GGGCGCTGAAGCGCCCGTCGAG>-	NCI-TCGA
SLC32A1	Q9H598	p.Gly74Asp	rs1483624176	missense variant	-	NC_000020.11:g.38724945G>A	TOPMed
SLC32A1	Q9H598	p.Ala75Ser	rs148951877	missense variant	-	NC_000020.11:g.38724947G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Ala75Thr	rs148951877	missense variant	-	NC_000020.11:g.38724947G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Glu76Lys	rs1347085642	missense variant	-	NC_000020.11:g.38724950G>A	gnomAD
SLC32A1	Q9H598	p.Glu76Lys	rs1347085642	missense variant	-	NC_000020.11:g.38724950G>A	NCI-TCGA
SLC32A1	Q9H598	p.Ala77Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38724954C>G	NCI-TCGA
SLC32A1	Q9H598	p.Pro78Ser	rs754116848	missense variant	-	NC_000020.11:g.38724956C>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Val79Phe	COSM6159767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38724959G>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Glu80Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38724962G>A	NCI-TCGA
SLC32A1	Q9H598	p.Ile83Leu	rs376820879	missense variant	-	NC_000020.11:g.38724971A>C	ESP,ExAC,gnomAD
SLC32A1	Q9H598	p.Ile83Phe	rs376820879	missense variant	-	NC_000020.11:g.38724971A>T	ESP,ExAC,gnomAD
SLC32A1	Q9H598	p.His84Tyr	rs370067437	missense variant	-	NC_000020.11:g.38724974C>T	ESP,ExAC,gnomAD
SLC32A1	Q9H598	p.Gly88Asp	COSM4098273	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38724987G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Pro94Ser	rs1322496611	missense variant	-	NC_000020.11:g.38725004C>T	gnomAD
SLC32A1	Q9H598	p.Pro94Leu	COSM3799523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38725005C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Pro95Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38725007C>T	NCI-TCGA
SLC32A1	Q9H598	p.Pro95Leu	rs551108790	missense variant	-	NC_000020.11:g.38725008C>T	1000Genomes,ExAC,gnomAD
SLC32A1	Q9H598	p.Gly97Ser	rs1466225482	missense variant	-	NC_000020.11:g.38725013G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Gly97Ser	rs1466225482	missense variant	-	NC_000020.11:g.38725013G>A	gnomAD
SLC32A1	Q9H598	p.Ser98Cys	rs1055910462	missense variant	-	NC_000020.11:g.38725017C>G	TOPMed,gnomAD
SLC32A1	Q9H598	p.Asp100Asn	COSM3546233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38725022G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Gln101Leu	rs1157562457	missense variant	-	NC_000020.11:g.38725026A>T	TOPMed,gnomAD
SLC32A1	Q9H598	p.Val102Glu	rs752195345	missense variant	-	NC_000020.11:g.38725029T>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly106AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.38725040G>-	NCI-TCGA
SLC32A1	Q9H598	p.Glu107Lys	rs748975423	missense variant	-	NC_000020.11:g.38725043G>A	NCI-TCGA,NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Glu107Lys	rs748975423	missense variant	-	NC_000020.11:g.38725043G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Asp112Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38725058G>A	NCI-TCGA
SLC32A1	Q9H598	p.Lys113Arg	rs775548792	missense variant	-	NC_000020.11:g.38725062A>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Ile116Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38725072C>G	NCI-TCGA
SLC32A1	Q9H598	p.Trp119Ter	COSM3546234	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.38725081G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Asn127Ser	rs527517348	missense variant	-	NC_000020.11:g.38725104A>G	1000Genomes,ExAC,gnomAD
SLC32A1	Q9H598	p.Ile129Ser	rs1292846379	missense variant	-	NC_000020.11:g.38725110T>G	TOPMed
SLC32A1	Q9H598	p.Ile129Val	rs762148090	missense variant	-	NC_000020.11:g.38725109A>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Gln130His	rs1461040126	missense variant	-	NC_000020.11:g.38725114G>C	TOPMed
SLC32A1	Q9H598	p.Gly131Asp	rs1484509288	missense variant	-	NC_000020.11:g.38727453G>A	NCI-TCGA
SLC32A1	Q9H598	p.Gly131Ser	rs1256321919	missense variant	-	NC_000020.11:g.38727452G>A	gnomAD
SLC32A1	Q9H598	p.Gly131Asp	rs1484509288	missense variant	-	NC_000020.11:g.38727453G>A	gnomAD
SLC32A1	Q9H598	p.Leu135Val	rs1189773827	missense variant	-	NC_000020.11:g.38727464C>G	TOPMed,gnomAD
SLC32A1	Q9H598	p.Pro138Leu	rs1168149433	missense variant	-	NC_000020.11:g.38727474C>T	gnomAD
SLC32A1	Q9H598	p.Tyr139Cys	COSM1026690	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727477A>G	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala140Thr	rs1431652117	missense variant	-	NC_000020.11:g.38727479G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala140Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727480C>T	NCI-TCGA
SLC32A1	Q9H598	p.Ala140Thr	rs1431652117	missense variant	-	NC_000020.11:g.38727479G>A	gnomAD
SLC32A1	Q9H598	p.His143Tyr	rs748027578	missense variant	-	NC_000020.11:g.38727488C>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.His143Arg	rs769891542	missense variant	-	NC_000020.11:g.38727489A>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Gly144Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727492G>A	NCI-TCGA
SLC32A1	Q9H598	p.Gly144Arg	rs1304945532	missense variant	-	NC_000020.11:g.38727491G>C	gnomAD
SLC32A1	Q9H598	p.Gly145Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727495G>C	NCI-TCGA
SLC32A1	Q9H598	p.Gly145Arg	rs1380430578	missense variant	-	NC_000020.11:g.38727494G>C	gnomAD
SLC32A1	Q9H598	p.Gly145Cys	COSM263706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727494G>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Tyr146Phe	rs749524268	missense variant	-	NC_000020.11:g.38727498A>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Gly148Glu	rs1279053628	missense variant	-	NC_000020.11:g.38727504G>A	gnomAD
SLC32A1	Q9H598	p.Leu151Val	rs774846233	missense variant	-	NC_000020.11:g.38727512C>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Ile152Phe	rs1490682237	missense variant	-	NC_000020.11:g.38727515A>T	gnomAD
SLC32A1	Q9H598	p.Ile153Val	rs1485387558	missense variant	-	NC_000020.11:g.38727518A>G	gnomAD
SLC32A1	Q9H598	p.Ala155Thr	COSM268152	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727524G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val157Ile	rs768121561	missense variant	-	NC_000020.11:g.38727530G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Val158Met	rs1219832962	missense variant	-	NC_000020.11:g.38727533G>A	gnomAD
SLC32A1	Q9H598	p.Val158Gly	rs1450043884	missense variant	-	NC_000020.11:g.38727534T>G	gnomAD
SLC32A1	Q9H598	p.Gly163Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727548G>A	NCI-TCGA
SLC32A1	Q9H598	p.Ala168Thr	rs761227662	missense variant	-	NC_000020.11:g.38727563G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Ala168Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727564C>G	NCI-TCGA
SLC32A1	Q9H598	p.Ala168Ser	rs761227662	missense variant	-	NC_000020.11:g.38727563G>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Ala168Val	rs968205956	missense variant	-	NC_000020.11:g.38727564C>T	TOPMed
SLC32A1	Q9H598	p.Ala168Val	rs968205956	missense variant	-	NC_000020.11:g.38727564C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Glu172Gln	rs764847103	missense variant	-	NC_000020.11:g.38727575G>C	ExAC,gnomAD
SLC32A1	Q9H598	p.Glu172Gly	rs758187434	missense variant	-	NC_000020.11:g.38727576A>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Glu172Lys	rs764847103	missense variant	-	NC_000020.11:g.38727575G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Glu173Gln	rs377010570	missense variant	-	NC_000020.11:g.38727578G>C	ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Glu173Asp	rs1302059218	missense variant	-	NC_000020.11:g.38727580G>C	gnomAD
SLC32A1	Q9H598	p.Asn174Lys	rs759565716	missense variant	-	NC_000020.11:g.38727583T>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Asn174Lys	rs759565716	missense variant	-	NC_000020.11:g.38727583T>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Glu175Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.38727584G>T	NCI-TCGA
SLC32A1	Q9H598	p.Asp176Glu	rs780997867	missense variant	-	NC_000020.11:g.38727589C>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Asp176Asn	rs1220464417	missense variant	-	NC_000020.11:g.38727587G>A	gnomAD
SLC32A1	Q9H598	p.Asp176Glu	rs780997867	missense variant	-	NC_000020.11:g.38727589C>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly177Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727591G>A	NCI-TCGA
SLC32A1	Q9H598	p.Gly177Ala	rs1051897820	missense variant	-	NC_000020.11:g.38727591G>C	gnomAD
SLC32A1	Q9H598	p.Gly177Ser	rs752635600	missense variant	-	NC_000020.11:g.38727590G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Glu178Ter	COSM6093130	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.38727593G>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Arg181His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727603G>A	NCI-TCGA
SLC32A1	Q9H598	p.Arg181Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727602C>T	NCI-TCGA
SLC32A1	Q9H598	p.Arg183Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727609G>C	NCI-TCGA
SLC32A1	Q9H598	p.Arg183Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727608C>T	NCI-TCGA
SLC32A1	Q9H598	p.Asp184Asn	rs1313408853	missense variant	-	NC_000020.11:g.38727611G>A	TOPMed
SLC32A1	Q9H598	p.Ser185Thr	rs1251065489	missense variant	-	NC_000020.11:g.38727614T>A	gnomAD
SLC32A1	Q9H598	p.Tyr186Ter	rs777888313	stop gained	-	NC_000020.11:g.38727619C>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Val187Leu	rs1362640908	missense variant	-	NC_000020.11:g.38727620G>T	gnomAD
SLC32A1	Q9H598	p.Val187Glu	rs1465427136	missense variant	-	NC_000020.11:g.38727621T>A	TOPMed
SLC32A1	Q9H598	p.Ile189Thr	rs1358670501	missense variant	-	NC_000020.11:g.38727627T>C	TOPMed
SLC32A1	Q9H598	p.Ala190Gly	rs922868461	missense variant	-	NC_000020.11:g.38727630C>G	TOPMed
SLC32A1	Q9H598	p.Ala190Thr	rs1400399949	missense variant	-	NC_000020.11:g.38727629G>A	gnomAD
SLC32A1	Q9H598	p.Ala192Asp	rs749366553	missense variant	-	NC_000020.11:g.38727636C>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Cys193Phe	rs140808070	missense variant	-	NC_000020.11:g.38727639G>T	ESP,ExAC,gnomAD
SLC32A1	Q9H598	p.Cys194Ser	rs1411899232	missense variant	-	NC_000020.11:g.38727641T>A	TOPMed
SLC32A1	Q9H598	p.Cys194Gly	COSM4098279	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727641T>G	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala195Thr	rs778982202	missense variant	-	NC_000020.11:g.38727644G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Ala195Ser	rs778982202	missense variant	-	NC_000020.11:g.38727644G>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Ala195Thr	rs778982202	missense variant	-	NC_000020.11:g.38727644G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Pro196Leu	rs772357025	missense variant	-	NC_000020.11:g.38727648C>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Pro196Ser	rs1274967586	missense variant	-	NC_000020.11:g.38727647C>T	TOPMed,gnomAD
SLC32A1	Q9H598	p.Pro196Thr	COSM6093129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727647C>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Arg197Cys	COSM1411716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727650C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Pro199Leu	rs775935038	missense variant	-	NC_000020.11:g.38727657C>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Pro199Arg	COSM4098280	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727657C>G	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Thr200Arg	rs761280843	missense variant	-	NC_000020.11:g.38727660C>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Thr200Met	rs761280843	missense variant	-	NC_000020.11:g.38727660C>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Thr200Lys	rs761280843	missense variant	-	NC_000020.11:g.38727660C>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Leu201Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727662C>A	NCI-TCGA
SLC32A1	Q9H598	p.Gly202Ser	COSM6093128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727665G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val205Met	rs767228334	missense variant	-	NC_000020.11:g.38727674G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Asn207Lys	rs201506462	missense variant	-	NC_000020.11:g.38727682C>A	1000Genomes,ExAC,gnomAD
SLC32A1	Q9H598	p.Val208Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727683G>A	NCI-TCGA
SLC32A1	Q9H598	p.Val208Ala	rs756110955	missense variant	-	NC_000020.11:g.38727684T>C	ExAC,gnomAD
SLC32A1	Q9H598	p.Ala209Val	COSM1411717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727687C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ile211Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727692A>T	NCI-TCGA
SLC32A1	Q9H598	p.Glu213Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727699A>G	NCI-TCGA
SLC32A1	Q9H598	p.Ile219Thr	rs1323625630	missense variant	-	NC_000020.11:g.38727717T>C	gnomAD
SLC32A1	Q9H598	p.Ser225Gly	rs1420501445	missense variant	-	NC_000020.11:g.38727734A>G	TOPMed
SLC32A1	Q9H598	p.Gly226Val	rs567071470	missense variant	-	NC_000020.11:g.38727738G>T	1000Genomes,ExAC,gnomAD
SLC32A1	Q9H598	p.Asn227Ser	rs1291265376	missense variant	-	NC_000020.11:g.38727741A>G	gnomAD
SLC32A1	Q9H598	p.Met229Thr	rs1165876096	missense variant	-	NC_000020.11:g.38727747T>C	TOPMed
SLC32A1	Q9H598	p.Tyr230His	rs769332696	missense variant	-	NC_000020.11:g.38727749T>C	ExAC,gnomAD
SLC32A1	Q9H598	p.Leu236Met	rs777297939	missense variant	-	NC_000020.11:g.38727767C>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Pro237Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727771C>G	NCI-TCGA
SLC32A1	Q9H598	p.Val238Leu	rs1203140609	missense variant	-	NC_000020.11:g.38727773G>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val238Leu	rs1203140609	missense variant	-	NC_000020.11:g.38727773G>T	gnomAD
SLC32A1	Q9H598	p.Val238Leu	rs1203140609	missense variant	-	NC_000020.11:g.38727773G>C	gnomAD
SLC32A1	Q9H598	p.Ser239Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727776T>C	NCI-TCGA
SLC32A1	Q9H598	p.Ser239Trp	rs1254196187	missense variant	-	NC_000020.11:g.38727777C>G	NCI-TCGA
SLC32A1	Q9H598	p.Ser239Trp	rs1254196187	missense variant	-	NC_000020.11:g.38727777C>G	gnomAD
SLC32A1	Q9H598	p.Gln240His	rs759168820	missense variant	-	NC_000020.11:g.38727781G>C	ExAC,gnomAD
SLC32A1	Q9H598	p.Ser244Thr	rs1187650504	missense variant	-	NC_000020.11:g.38727791T>A	gnomAD
SLC32A1	Q9H598	p.Ser244Cys	rs767194991	missense variant	-	NC_000020.11:g.38727792C>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Ile245Leu	rs1236966151	missense variant	-	NC_000020.11:g.38727794A>C	TOPMed
SLC32A1	Q9H598	p.Ala247Thr	COSM5755573	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727800G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Thr248Met	COSM186738	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727804C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala249Thr	COSM4098281	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727806G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val250Met	COSM5481590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727809G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val250Leu	rs763830019	missense variant	-	NC_000020.11:g.38727809G>C	ExAC,gnomAD
SLC32A1	Q9H598	p.Val250Ala	rs753806917	missense variant	-	NC_000020.11:g.38727810T>C	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Phe256LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.38727824_38727825insC	NCI-TCGA
SLC32A1	Q9H598	p.Leu257His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727831T>A	NCI-TCGA
SLC32A1	Q9H598	p.Asn259Asp	rs199839263	missense variant	-	NC_000020.11:g.38727836A>G	1000Genomes,ExAC,gnomAD
SLC32A1	Q9H598	p.Lys261Asn	COSM723731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727844G>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala262Thr	rs750507253	missense variant	-	NC_000020.11:g.38727845G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Lys265Arg	rs747176135	missense variant	-	NC_000020.11:g.38727855A>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Leu269Val	rs1361021691	missense variant	-	NC_000020.11:g.38727866C>G	gnomAD
SLC32A1	Q9H598	p.Thr271Ala	rs752695840	missense variant	-	NC_000020.11:g.38727872A>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Phe275Leu	rs748614601	missense variant	-	NC_000020.11:g.38727886C>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Phe275Leu	rs748614601	missense variant	-	NC_000020.11:g.38727886C>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Val276Ile	rs1023170011	missense variant	-	NC_000020.11:g.38727887G>A	-
SLC32A1	Q9H598	p.Val276Ile	rs1023170011	missense variant	-	NC_000020.11:g.38727887G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ile277Leu	rs867501655	missense variant	-	NC_000020.11:g.38727890A>C	gnomAD
SLC32A1	Q9H598	p.Ile279Met	rs1343123233	missense variant	-	NC_000020.11:g.38727898C>G	TOPMed,gnomAD
SLC32A1	Q9H598	p.Val281Ile	rs1377762542	missense variant	-	NC_000020.11:g.38727902G>A	TOPMed
SLC32A1	Q9H598	p.Ala283Thr	rs371391027	missense variant	-	NC_000020.11:g.38727908G>A	ESP,ExAC,TOPMed
SLC32A1	Q9H598	p.Tyr284Asn	rs1003447285	missense variant	-	NC_000020.11:g.38727911T>A	TOPMed
SLC32A1	Q9H598	p.Tyr284Cys	COSM4098282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727912A>G	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Cys285Gly	rs770948234	missense variant	-	NC_000020.11:g.38727914T>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Ser287Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727920T>C	NCI-TCGA
SLC32A1	Q9H598	p.Arg288Gly	rs142717620	missense variant	-	NC_000020.11:g.38727923C>G	ESP,gnomAD
SLC32A1	Q9H598	p.Arg288Gln	rs775147981	missense variant	-	NC_000020.11:g.38727924G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Arg288Trp	COSM1411718	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727923C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala289Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727927C>T	NCI-TCGA
SLC32A1	Q9H598	p.Arg290His	rs763883310	missense variant	-	NC_000020.11:g.38727930G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Arg290Ser	COSM6159765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727929C>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Asp291Asn	rs776433678	missense variant	-	NC_000020.11:g.38727932G>A	NCI-TCGA,NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Asp291Asn	rs776433678	missense variant	-	NC_000020.11:g.38727932G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Asp291Glu	rs1403936608	missense variant	-	NC_000020.11:g.38727934C>G	gnomAD
SLC32A1	Q9H598	p.Ala293Val	rs1414787318	missense variant	-	NC_000020.11:g.38727939C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala293Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727939C>A	NCI-TCGA
SLC32A1	Q9H598	p.Ala293Val	rs1414787318	missense variant	-	NC_000020.11:g.38727939C>T	gnomAD
SLC32A1	Q9H598	p.Trp294Gly	rs761719417	missense variant	-	NC_000020.11:g.38727941T>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Glu295Asp	rs1243113122	missense variant	-	NC_000020.11:g.38727946G>C	gnomAD
SLC32A1	Q9H598	p.Lys296Glu	COSM3546236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727947A>G	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Phe299Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727957T>G	NCI-TCGA
SLC32A1	Q9H598	p.Phe299Leu	rs200060849	missense variant	-	NC_000020.11:g.38727958C>A	-
SLC32A1	Q9H598	p.Phe299Leu	rs200060849	missense variant	-	NC_000020.11:g.38727958C>A	NCI-TCGA,NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Tyr300His	rs1362916582	missense variant	-	NC_000020.11:g.38727959T>C	gnomAD
SLC32A1	Q9H598	p.Asp302Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727965G>A	NCI-TCGA
SLC32A1	Q9H598	p.Asp302Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38727966A>T	NCI-TCGA
SLC32A1	Q9H598	p.Asp302His	rs1299907122	missense variant	-	NC_000020.11:g.38727965G>C	gnomAD
SLC32A1	Q9H598	p.Lys304Asn	COSM1026695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727973G>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Lys305Glu	rs750514398	missense variant	-	NC_000020.11:g.38727974A>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Pro307Thr	COSM723730	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38727980C>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ile310Thr	rs1290656795	missense variant	-	NC_000020.11:g.38727990T>C	gnomAD
SLC32A1	Q9H598	p.Ile313Met	rs758524437	missense variant	-	NC_000020.11:g.38728000C>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Val314Met	rs1201369045	missense variant	-	NC_000020.11:g.38728001G>A	gnomAD
SLC32A1	Q9H598	p.Ser316Gly	rs1284084095	missense variant	-	NC_000020.11:g.38728007A>G	gnomAD
SLC32A1	Q9H598	p.Ser316Cys	COSM6093127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728007A>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Tyr317Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728011A>G	NCI-TCGA
SLC32A1	Q9H598	p.Thr318Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728014C>A	NCI-TCGA
SLC32A1	Q9H598	p.Ile321Val	rs1161925841	missense variant	-	NC_000020.11:g.38728022A>G	TOPMed
SLC32A1	Q9H598	p.Ser325Leu	COSM4098283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728035C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Gly328Ser	COSM3546238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728043G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Asn329Ser	rs1478178270	missense variant	-	NC_000020.11:g.38728047A>G	gnomAD
SLC32A1	Q9H598	p.Gln331Arg	rs749710984	missense variant	-	NC_000020.11:g.38728053A>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gln332His	rs1209081845	missense variant	-	NC_000020.11:g.38728057G>T	TOPMed
SLC32A1	Q9H598	p.Pro333Arg	rs771604217	missense variant	-	NC_000020.11:g.38728059C>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Ser334Gly	rs1321074947	missense variant	-	NC_000020.11:g.38728061A>G	gnomAD
SLC32A1	Q9H598	p.Ser334Arg	rs373705070	missense variant	-	NC_000020.11:g.38728063C>A	ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Glu335Asp	rs1262212586	missense variant	-	NC_000020.11:g.38728066G>C	TOPMed
SLC32A1	Q9H598	p.His337Gln	rs986326477	missense variant	-	NC_000020.11:g.38728072C>G	TOPMed
SLC32A1	Q9H598	p.His337Arg	rs1299349375	missense variant	-	NC_000020.11:g.38728071A>G	gnomAD
SLC32A1	Q9H598	p.Cys338Arg	rs1308668818	missense variant	-	NC_000020.11:g.38728073T>C	TOPMed
SLC32A1	Q9H598	p.Met339Ile	rs1387598404	missense variant	-	NC_000020.11:g.38728078G>A	TOPMed,gnomAD
SLC32A1	Q9H598	p.Met339Val	rs143923592	missense variant	-	NC_000020.11:g.38728076A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Met340Ile	rs1234326457	missense variant	-	NC_000020.11:g.38728081G>C	gnomAD
SLC32A1	Q9H598	p.Met340Ile	COSM3840987	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728081G>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Asn341Thr	rs1287969144	missense variant	-	NC_000020.11:g.38728083A>C	gnomAD
SLC32A1	Q9H598	p.Trp342Ter	COSM3911289	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.38728086G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Thr343Ser	rs1327456008	missense variant	-	NC_000020.11:g.38728088A>T	gnomAD
SLC32A1	Q9H598	p.Ala346Thr	COSM1026696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728097G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala347Ser	rs1442916636	missense variant	-	NC_000020.11:g.38728100G>T	TOPMed,gnomAD
SLC32A1	Q9H598	p.Cys348Tyr	COSM1411719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728104G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val349Met	rs776361290	missense variant	-	NC_000020.11:g.38728106G>A	NCI-TCGA,NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val349Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728106G>T	NCI-TCGA
SLC32A1	Q9H598	p.Val349Met	rs776361290	missense variant	-	NC_000020.11:g.38728106G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Leu350Phe	COSM478134	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728109C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Leu353Phe	rs1268911410	missense variant	-	NC_000020.11:g.38728118C>T	gnomAD
SLC32A1	Q9H598	p.Phe354Ile	rs773229110	missense variant	-	NC_000020.11:g.38728121T>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Ala355Thr	COSM4098285	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728124G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val357Ala	rs1156361004	missense variant	-	NC_000020.11:g.38728131T>C	TOPMed
SLC32A1	Q9H598	p.Ala363Thr	rs1417050812	missense variant	-	NC_000020.11:g.38728148G>A	gnomAD
SLC32A1	Q9H598	p.Ala363Asp	rs545702481	missense variant	-	NC_000020.11:g.38728149C>A	1000Genomes
SLC32A1	Q9H598	p.Asp364Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728151G>A	NCI-TCGA
SLC32A1	Q9H598	p.Thr366Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728158C>T	NCI-TCGA
SLC32A1	Q9H598	p.Lys367Arg	rs767748758	missense variant	-	NC_000020.11:g.38728161A>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Val369Ile	rs1291854374	missense variant	-	NC_000020.11:g.38728166G>A	TOPMed,gnomAD
SLC32A1	Q9H598	p.Ile370Val	rs753053346	missense variant	-	NC_000020.11:g.38728169A>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Thr371Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728173C>T	NCI-TCGA
SLC32A1	Q9H598	p.Asn373Ser	rs777961679	missense variant	-	NC_000020.11:g.38728179A>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Asn373Tyr	rs1307602980	missense variant	-	NC_000020.11:g.38728178A>T	gnomAD
SLC32A1	Q9H598	p.Gly376Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728187G>T	NCI-TCGA
SLC32A1	Q9H598	p.Gly376Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728188G>T	NCI-TCGA
SLC32A1	Q9H598	p.Gly376Ser	rs367818897	missense variant	-	NC_000020.11:g.38728187G>A	ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly376Arg	rs367818897	missense variant	-	NC_000020.11:g.38728187G>C	ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Phe385Leu	rs1243333593	missense variant	-	NC_000020.11:g.38728214T>C	gnomAD
SLC32A1	Q9H598	p.Leu386Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728218T>C	NCI-TCGA
SLC32A1	Q9H598	p.Val387Met	rs1267757229	missense variant	-	NC_000020.11:g.38728220G>A	NCI-TCGA
SLC32A1	Q9H598	p.Val387Met	rs1267757229	missense variant	-	NC_000020.11:g.38728220G>A	gnomAD
SLC32A1	Q9H598	p.Ala388Thr	rs746521205	missense variant	-	NC_000020.11:g.38728223G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Lys389Arg	rs1463733726	missense variant	-	NC_000020.11:g.38728227A>G	gnomAD
SLC32A1	Q9H598	p.Ser393Tyr	COSM1307371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728239C>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala400Ser	rs772822378	missense variant	-	NC_000020.11:g.38728259G>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Ala400Ser	rs772822378	missense variant	-	NC_000020.11:g.38728259G>T	NCI-TCGA,NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala400Thr	COSM1026698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728259G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala401Thr	COSM4438956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728262G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val402Ala	rs763040176	missense variant	-	NC_000020.11:g.38728266T>C	ExAC,gnomAD
SLC32A1	Q9H598	p.Val404Met	rs1168086793	missense variant	-	NC_000020.11:g.38728271G>A	gnomAD
SLC32A1	Q9H598	p.Leu405Arg	rs774612352	missense variant	-	NC_000020.11:g.38728275T>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Lys407Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728281A>G	NCI-TCGA
SLC32A1	Q9H598	p.Leu409Phe	rs767447129	missense variant	-	NC_000020.11:g.38728286C>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Phe410Leu	rs760744084	missense variant	-	NC_000020.11:g.38728291C>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Phe410Ser	rs752996684	missense variant	-	NC_000020.11:g.38728290T>C	ExAC,gnomAD
SLC32A1	Q9H598	p.Glu412Val	rs1322884888	missense variant	-	NC_000020.11:g.38728296A>T	gnomAD
SLC32A1	Q9H598	p.Gly413Asp	rs982792875	missense variant	-	NC_000020.11:g.38728299G>A	TOPMed,gnomAD
SLC32A1	Q9H598	p.Ser414Arg	rs764534852	missense variant	-	NC_000020.11:g.38728303C>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Ser414Asn	rs1271934415	missense variant	-	NC_000020.11:g.38728302G>A	gnomAD
SLC32A1	Q9H598	p.Arg415His	rs1255064268	missense variant	-	NC_000020.11:g.38728305G>A	TOPMed,gnomAD
SLC32A1	Q9H598	p.Arg415Leu	rs1255064268	missense variant	-	NC_000020.11:g.38728305G>T	TOPMed,gnomAD
SLC32A1	Q9H598	p.Arg415Ser	rs754192010	missense variant	-	NC_000020.11:g.38728304C>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Ala416Thr	rs142909531	missense variant	-	NC_000020.11:g.38728307G>A	NCI-TCGA,NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala416Thr	rs142909531	missense variant	-	NC_000020.11:g.38728307G>A	ESP,ExAC,gnomAD
SLC32A1	Q9H598	p.Ala416Pro	rs142909531	missense variant	-	NC_000020.11:g.38728307G>C	ESP,ExAC,gnomAD
SLC32A1	Q9H598	p.Phe417Leu	rs541773581	missense variant	-	NC_000020.11:g.38728310T>C	1000Genomes,ExAC,gnomAD
SLC32A1	Q9H598	p.Phe418Ser	rs750876338	missense variant	-	NC_000020.11:g.38728314T>C	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Tyr422His	rs1296883817	missense variant	-	NC_000020.11:g.38728325T>C	TOPMed
SLC32A1	Q9H598	p.Ser423Gly	rs34517228	missense variant	-	NC_000020.11:g.38728328A>G	UniProt,dbSNP
SLC32A1	Q9H598	p.Ser423Gly	VAR_048121	missense variant	-	NC_000020.11:g.38728328A>G	UniProt
SLC32A1	Q9H598	p.Ser423Gly	rs34517228	missense variant	-	NC_000020.11:g.38728328A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly424Ser	rs1358826567	missense variant	-	NC_000020.11:g.38728331G>A	gnomAD
SLC32A1	Q9H598	p.Asp425Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728335A>T	NCI-TCGA
SLC32A1	Q9H598	p.Asp425Asn	rs1464822213	missense variant	-	NC_000020.11:g.38728334G>A	gnomAD
SLC32A1	Q9H598	p.Asp425Glu	rs749092130	missense variant	-	NC_000020.11:g.38728336C>G	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly426Arg	rs771050013	missense variant	-	NC_000020.11:g.38728337G>C	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly426Arg	rs771050013	missense variant	-	NC_000020.11:g.38728337G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly426Trp	rs771050013	missense variant	-	NC_000020.11:g.38728337G>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Gly426Val	COSM6093126	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728338G>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Arg427Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728340C>T	NCI-TCGA
SLC32A1	Q9H598	p.Arg427Leu	rs778245804	missense variant	-	NC_000020.11:g.38728341G>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Arg427His	rs778245804	missense variant	-	NC_000020.11:g.38728341G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Lys429Arg	rs1260681460	missense variant	-	NC_000020.11:g.38728347A>G	TOPMed
SLC32A1	Q9H598	p.Ser430Tyr	rs371563763	missense variant	-	NC_000020.11:g.38728350C>A	ESP,ExAC,gnomAD
SLC32A1	Q9H598	p.Trp431Leu	rs1366671591	missense variant	-	NC_000020.11:g.38728353G>T	gnomAD
SLC32A1	Q9H598	p.Trp431Cys	rs1249221165	missense variant	-	NC_000020.11:g.38728354G>C	gnomAD
SLC32A1	Q9H598	p.Trp431Ter	COSM2149784	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.38728354G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Trp431Leu	rs1366671591	missense variant	-	NC_000020.11:g.38728353G>T	NCI-TCGA
SLC32A1	Q9H598	p.Thr434Met	COSM5335074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728362C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Arg436His	COSM1411723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728368G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala438Thr	rs1256431418	missense variant	-	NC_000020.11:g.38728373G>A	gnomAD
SLC32A1	Q9H598	p.Ala438Thr	rs1256431418	missense variant	-	NC_000020.11:g.38728373G>A	NCI-TCGA
SLC32A1	Q9H598	p.Ala438Val	COSM3290834	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728374C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val440Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728380T>C	NCI-TCGA
SLC32A1	Q9H598	p.Val440Ile	rs764187908	missense variant	-	NC_000020.11:g.38728379G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Val441Phe	rs777043497	missense variant	-	NC_000020.11:g.38728382G>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Val441Ile	rs777043497	missense variant	-	NC_000020.11:g.38728382G>A	NCI-TCGA
SLC32A1	Q9H598	p.Val441Ile	rs777043497	missense variant	-	NC_000020.11:g.38728382G>A	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Thr443Met	rs892354307	missense variant	-	NC_000020.11:g.38728389C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Thr443Met	rs892354307	missense variant	-	NC_000020.11:g.38728389C>T	TOPMed,gnomAD
SLC32A1	Q9H598	p.Leu444Gln	rs1424686994	missense variant	-	NC_000020.11:g.38728392T>A	gnomAD
SLC32A1	Q9H598	p.Leu445Phe	rs1276643179	missense variant	-	NC_000020.11:g.38728394C>T	TOPMed
SLC32A1	Q9H598	p.Leu445Arg	COSM4098290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728395T>G	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala447Thr	COSM3693487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728400G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Val450Ala	rs1332984368	missense variant	-	NC_000020.11:g.38728410T>C	TOPMed
SLC32A1	Q9H598	p.Pro451Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728412C>A	NCI-TCGA
SLC32A1	Q9H598	p.Ala454Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728421G>A	NCI-TCGA
SLC32A1	Q9H598	p.Leu456Phe	rs767106874	missense variant	-	NC_000020.11:g.38728427C>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Leu459Phe	rs1220661138	missense variant	-	NC_000020.11:g.38728436C>T	gnomAD
SLC32A1	Q9H598	p.Gly461Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728442G>A	NCI-TCGA
SLC32A1	Q9H598	p.Leu475Phe	rs1487549655	missense variant	-	NC_000020.11:g.38728484C>T	gnomAD
SLC32A1	Q9H598	p.Phe476Ser	COSM6159763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728488T>C	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Arg479Cys	rs1193079299	missense variant	-	NC_000020.11:g.38728496C>T	gnomAD
SLC32A1	Q9H598	p.Arg479Leu	rs1430273913	missense variant	-	NC_000020.11:g.38728497G>T	gnomAD
SLC32A1	Q9H598	p.Leu481Pro	rs1460374393	missense variant	-	NC_000020.11:g.38728503T>C	gnomAD
SLC32A1	Q9H598	p.Arg483His	rs1414811807	missense variant	-	NC_000020.11:g.38728509G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Arg483His	rs1414811807	missense variant	-	NC_000020.11:g.38728509G>A	gnomAD
SLC32A1	Q9H598	p.Arg483Cys	rs547270146	missense variant	-	NC_000020.11:g.38728508C>T	ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Lys484Asn	rs1473110302	missense variant	-	NC_000020.11:g.38728513G>T	TOPMed
SLC32A1	Q9H598	p.Lys484Asn	rs1473110302	missense variant	-	NC_000020.11:g.38728513G>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Leu485Val	COSM3799524	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728514C>G	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Gln489Glu	rs757122447	missense variant	-	NC_000020.11:g.38728526C>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Gln489Arg	rs1347540748	missense variant	-	NC_000020.11:g.38728527A>G	gnomAD
SLC32A1	Q9H598	p.Val494Ile	COSM4098292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728541G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ala495Val	rs745821668	missense variant	-	NC_000020.11:g.38728545C>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Ala495Thr	rs778809530	missense variant	-	NC_000020.11:g.38728544G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Ala495Thr	rs778809530	missense variant	-	NC_000020.11:g.38728544G>A	NCI-TCGA,NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Ile496Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728547A>G	NCI-TCGA
SLC32A1	Q9H598	p.Phe497Val	rs1407730184	missense variant	-	NC_000020.11:g.38728550T>G	gnomAD
SLC32A1	Q9H598	p.Val498Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728553G>A	NCI-TCGA
SLC32A1	Q9H598	p.Gly500Ser	COSM4098293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728559G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Gly501Ser	rs1290034766	missense variant	-	NC_000020.11:g.38728562G>A	gnomAD
SLC32A1	Q9H598	p.Ile502Met	rs1329760124	missense variant	-	NC_000020.11:g.38728567C>G	NCI-TCGA
SLC32A1	Q9H598	p.Ile502Met	rs1329760124	missense variant	-	NC_000020.11:g.38728567C>G	gnomAD
SLC32A1	Q9H598	p.Val505Leu	rs372989549	missense variant	-	NC_000020.11:g.38728574G>T	ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Val509Met	rs1319953535	missense variant	-	NC_000020.11:g.38728586G>A	TOPMed,gnomAD
SLC32A1	Q9H598	p.His510Tyr	rs1457450615	missense variant	-	NC_000020.11:g.38728589C>T	TOPMed
SLC32A1	Q9H598	p.Leu512Phe	rs1269835399	missense variant	-	NC_000020.11:g.38728595C>T	gnomAD
SLC32A1	Q9H598	p.Glu513Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728598G>A	NCI-TCGA
SLC32A1	Q9H598	p.Glu513Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728600G>T	NCI-TCGA
SLC32A1	Q9H598	p.Gly514Ser	rs747052666	missense variant	-	NC_000020.11:g.38728601G>A	ExAC,gnomAD
SLC32A1	Q9H598	p.Leu515Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.38728605T>C	NCI-TCGA
SLC32A1	Q9H598	p.Leu515Phe	rs1254504463	missense variant	-	NC_000020.11:g.38728604C>T	gnomAD
SLC32A1	Q9H598	p.Ile516Met	rs776847257	missense variant	-	NC_000020.11:g.38728609C>G	ExAC,gnomAD
SLC32A1	Q9H598	p.Ile516Met	rs776847257	missense variant	-	NC_000020.11:g.38728609C>G	NCI-TCGA
SLC32A1	Q9H598	p.Ile516Val	rs546892153	missense variant	-	NC_000020.11:g.38728607A>G	1000Genomes,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Tyr519His	rs1406556808	missense variant	-	NC_000020.11:g.38728616T>C	TOPMed,gnomAD
SLC32A1	Q9H598	p.Arg520Gln	COSM3290846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728620G>A	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Thr521Asn	rs140172143	missense variant	-	NC_000020.11:g.38728623C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SLC32A1	Q9H598	p.Asn522Lys	rs1350821917	missense variant	-	NC_000020.11:g.38728627C>A	TOPMed,gnomAD
SLC32A1	Q9H598	p.Asn522Ile	rs773546573	missense variant	-	NC_000020.11:g.38728626A>T	ExAC,gnomAD
SLC32A1	Q9H598	p.Ala523Thr	rs940895631	missense variant	-	NC_000020.11:g.38728628G>A	TOPMed,gnomAD
SLC32A1	Q9H598	p.Ala523Val	COSM3693488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.38728629C>T	NCI-TCGA Cosmic
SLC32A1	Q9H598	p.Glu524Gly	rs1461347701	missense variant	-	NC_000020.11:g.38728632A>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro3Gln	rs762506024	missense variant	-	NC_000016.10:g.68236038G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro3Leu	rs762506024	missense variant	-	NC_000016.10:g.68236038G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro4Ser	rs1490590250	missense variant	-	NC_000016.10:g.68236036G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro4Gln	rs775200064	missense variant	-	NC_000016.10:g.68236035G>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro4Leu	rs775200064	missense variant	-	NC_000016.10:g.68236035G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro7Ser	rs745543475	missense variant	-	NC_000016.10:g.68236027G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro8Thr	rs776235829	missense variant	-	NC_000016.10:g.68236024G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro9Leu	rs994902409	missense variant	-	NC_000016.10:g.68236020G>A	TOPMed
ESRP2	Q9H6T0	p.Pro9Thr	rs1218625150	missense variant	-	NC_000016.10:g.68236021G>T	gnomAD
ESRP2	Q9H6T0	p.Pro10Ser	rs770884448	missense variant	-	NC_000016.10:g.68236018G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro11Ser	rs1276174915	missense variant	-	NC_000016.10:g.68236015G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro11Leu	rs1291509195	missense variant	-	NC_000016.10:g.68236014G>A	TOPMed
ESRP2	Q9H6T0	p.Gly12Arg	rs1483146212	missense variant	-	NC_000016.10:g.68236012C>G	TOPMed
ESRP2	Q9H6T0	p.Pro15Ser	rs1349264437	missense variant	-	NC_000016.10:g.68236003G>A	gnomAD
ESRP2	Q9H6T0	p.Ala16Glu	rs777909147	missense variant	-	NC_000016.10:g.68235999G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Asp18Asn	rs755098271	missense variant	-	NC_000016.10:g.68235994C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro19Ser	rs749396349	missense variant	-	NC_000016.10:g.68235991G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala20Val	rs1174764419	missense variant	-	NC_000016.10:g.68235987G>A	gnomAD
ESRP2	Q9H6T0	p.Pro23Ser	rs1180317709	missense variant	-	NC_000016.10:g.68235979G>A	gnomAD
ESRP2	Q9H6T0	p.Pro23Leu	rs375465518	missense variant	-	NC_000016.10:g.68235978G>A	ESP,gnomAD
ESRP2	Q9H6T0	p.Pro25Leu	rs1436764662	missense variant	-	NC_000016.10:g.68235972G>A	TOPMed
ESRP2	Q9H6T0	p.Trp26Arg	rs1188141325	missense variant	-	NC_000016.10:g.68235970A>G	TOPMed
ESRP2	Q9H6T0	p.Gly28Ter	rs750680674	stop gained	-	NC_000016.10:g.68235964C>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly28Arg	rs750680674	missense variant	-	NC_000016.10:g.68235964C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly28Arg	rs750680674	missense variant	-	NC_000016.10:g.68235964C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly28Glu	COSM4062102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68235963C>T	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Val31Ala	rs767836179	missense variant	-	NC_000016.10:g.68235954A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Val32Ile	rs1327892717	missense variant	-	NC_000016.10:g.68235952C>T	gnomAD
ESRP2	Q9H6T0	p.Leu33Phe	rs757667748	missense variant	-	NC_000016.10:g.68235949G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Phe34Leu	rs752046751	missense variant	-	NC_000016.10:g.68235944G>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly35Arg	rs764650345	missense variant	-	NC_000016.10:g.68235943C>G	ExAC,TOPMed
ESRP2	Q9H6T0	p.Gly35Val	rs1312914556	missense variant	-	NC_000016.10:g.68235942C>A	gnomAD
ESRP2	Q9H6T0	p.Ala36Asp	rs1009161101	missense variant	-	NC_000016.10:g.68235939G>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala36Val	rs1009161101	missense variant	-	NC_000016.10:g.68235939G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr37Met	COSM5082711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68235936G>A	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Ala38Gly	rs774801980	missense variant	-	NC_000016.10:g.68235933G>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala38Glu	rs774801980	missense variant	-	NC_000016.10:g.68235933G>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly39Cys	rs759066784	missense variant	-	NC_000016.10:g.68235931C>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly39Arg	rs759066784	missense variant	-	NC_000016.10:g.68235931C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala40Gly	rs770831377	missense variant	-	NC_000016.10:g.68235927G>C	ExAC
ESRP2	Q9H6T0	p.Leu41Pro	rs1156994175	missense variant	-	NC_000016.10:g.68235924A>G	gnomAD
ESRP2	Q9H6T0	p.Arg43Gln	rs137888852	missense variant	-	NC_000016.10:g.68235918C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg43Pro	rs137888852	missense variant	-	NC_000016.10:g.68235918C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg43Leu	rs137888852	missense variant	-	NC_000016.10:g.68235918C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg43Trp	rs748133000	missense variant	-	NC_000016.10:g.68235919G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg43Gly	rs748133000	missense variant	-	NC_000016.10:g.68235919G>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp44Gly	rs746055313	missense variant	-	NC_000016.10:g.68235915T>C	ExAC
ESRP2	Q9H6T0	p.Leu45Gln	rs1204284730	missense variant	-	NC_000016.10:g.68235912A>T	gnomAD
ESRP2	Q9H6T0	p.Asp48Glu	rs778121279	missense variant	-	NC_000016.10:g.68235902G>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu49Lys	rs758778671	missense variant	-	NC_000016.10:g.68235901C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Asp51Asn	rs764625215	missense variant	-	NC_000016.10:g.68235895C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu52Ile	rs759139431	missense variant	-	NC_000016.10:g.68235892A>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val56Leu	rs766204954	missense variant	-	NC_000016.10:g.68235880C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val56Ile	rs766204954	missense variant	-	NC_000016.10:g.68235880C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gln58Ter	rs1318687117	stop gained	-	NC_000016.10:g.68235874G>A	gnomAD
ESRP2	Q9H6T0	p.Val59Gly	rs1345821612	missense variant	-	NC_000016.10:g.68235870A>C	gnomAD
ESRP2	Q9H6T0	p.Val59Met	rs372489744	missense variant	-	NC_000016.10:g.68235871C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val60Gly	rs1164373120	missense variant	-	NC_000016.10:g.68235867A>C	gnomAD
ESRP2	Q9H6T0	p.Glu61Ala	rs771924158	missense variant	-	NC_000016.10:g.68235864T>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg63Pro	rs1371621996	missense variant	-	NC_000016.10:g.68235858C>G	TOPMed
ESRP2	Q9H6T0	p.Ser64Asn	rs774394898	missense variant	-	NC_000016.10:g.68235855C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser64Ile	rs774394898	missense variant	-	NC_000016.10:g.68235855C>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser64Gly	rs375500517	missense variant	-	NC_000016.10:g.68235856T>C	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg65Cys	rs141215159	missense variant	-	NC_000016.10:g.68235853G>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly68Arg	rs1300744116	missense variant	-	NC_000016.10:g.68235759C>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr69Lys	rs1347395523	missense variant	-	NC_000016.10:g.68235755G>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr69Arg	rs1347395523	missense variant	-	NC_000016.10:g.68235755G>C	TOPMed,gnomAD
ESRP2	Q9H6T0	p.His71Tyr	rs1409392559	missense variant	-	NC_000016.10:g.68235750G>A	gnomAD
ESRP2	Q9H6T0	p.Lys72Glu	rs1455813069	missense variant	-	NC_000016.10:g.68235747T>C	TOPMed
ESRP2	Q9H6T0	p.Ser73Leu	rs1368532344	missense variant	-	NC_000016.10:g.68235743G>A	gnomAD
ESRP2	Q9H6T0	p.Leu74Gln	rs1265805848	missense variant	-	NC_000016.10:g.68235740A>T	gnomAD
ESRP2	Q9H6T0	p.Leu74Met	rs1358119167	missense variant	-	NC_000016.10:g.68235741G>T	gnomAD
ESRP2	Q9H6T0	p.Arg76His	rs768571205	missense variant	-	NC_000016.10:g.68235734C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg76Ser	rs774148847	missense variant	-	NC_000016.10:g.68235735G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala77Thr	rs762889970	missense variant	-	NC_000016.10:g.68235732C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu78Gln	rs1384734992	missense variant	-	NC_000016.10:g.68235729C>G	TOPMed
ESRP2	Q9H6T0	p.Glu78Lys	rs1384734992	missense variant	-	NC_000016.10:g.68235729C>T	TOPMed
ESRP2	Q9H6T0	p.Ala80Thr	rs1386956476	missense variant	-	NC_000016.10:g.68235723C>T	TOPMed
ESRP2	Q9H6T0	p.Ala80Val	rs747198862	missense variant	-	NC_000016.10:g.68235722G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala81Ser	rs1343080560	missense variant	-	NC_000016.10:g.68235720C>A	TOPMed
ESRP2	Q9H6T0	p.Ser83Asn	rs779154272	missense variant	-	NC_000016.10:g.68235713C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Thr84Lys	rs1255922588	missense variant	-	NC_000016.10:g.68235710G>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr84Met	rs1255922588	missense variant	-	NC_000016.10:g.68235710G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Cys86Ser	rs755456270	missense variant	-	NC_000016.10:g.68235704C>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg87Ser	rs962118706	missense variant	-	NC_000016.10:g.68235702G>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg87Gly	rs962118706	missense variant	-	NC_000016.10:g.68235702G>C	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg87His	rs749835392	missense variant	-	NC_000016.10:g.68235701C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu88Gln	rs779673530	missense variant	-	NC_000016.10:g.68235699C>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu88Lys	COSM3511199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68235699C>T	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Gly91Ser	rs1015541818	missense variant	-	NC_000016.10:g.68235690C>T	TOPMed
ESRP2	Q9H6T0	p.Gly91Val	rs1401151496	missense variant	-	NC_000016.10:g.68235689C>A	gnomAD
ESRP2	Q9H6T0	p.Ser93Asn	rs767266315	missense variant	-	NC_000016.10:g.68235683C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Asp95Gly	rs1271396377	missense variant	-	NC_000016.10:g.68235677T>C	TOPMed
ESRP2	Q9H6T0	p.Ser96Ile	rs1157763584	missense variant	-	NC_000016.10:g.68235674C>A	gnomAD
ESRP2	Q9H6T0	p.Ser96Arg	rs756864203	missense variant	-	NC_000016.10:g.68235673G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg99Pro	rs1181996101	missense variant	-	NC_000016.10:g.68235665C>G	gnomAD
ESRP2	Q9H6T0	p.Arg99Trp	rs1009068080	missense variant	-	NC_000016.10:g.68235666G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg99Gln	rs1181996101	missense variant	-	NC_000016.10:g.68235665C>T	gnomAD
ESRP2	Q9H6T0	p.Ala100Gly	rs751310467	missense variant	-	NC_000016.10:g.68235662G>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro102Thr	rs1255854334	missense variant	-	NC_000016.10:g.68235657G>T	gnomAD
ESRP2	Q9H6T0	p.Gln109Ter	rs1208174156	stop gained	-	NC_000016.10:g.68235636G>A	gnomAD
ESRP2	Q9H6T0	p.Gln109His	rs766420891	missense variant	-	NC_000016.10:g.68235634C>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Leu113Gln	rs1168535857	missense variant	-	NC_000016.10:g.68234097A>T	gnomAD
ESRP2	Q9H6T0	p.Val114Met	rs1366287630	missense variant	-	NC_000016.10:g.68234095C>T	TOPMed
ESRP2	Q9H6T0	p.Gly116Arg	rs200133479	missense variant	-	NC_000016.10:g.68234089C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly116Arg	rs200133479	missense variant	-	NC_000016.10:g.68234089C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp117Tyr	rs1267040388	missense variant	-	NC_000016.10:g.68234086C>A	gnomAD
ESRP2	Q9H6T0	p.Asp117Gly	COSM3511197	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68234085T>C	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Ala119Asp	rs1224955531	missense variant	-	NC_000016.10:g.68234079G>T	gnomAD
ESRP2	Q9H6T0	p.Leu121Arg	rs774478429	missense variant	-	NC_000016.10:g.68234073A>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gly122Arg	rs372633810	missense variant	-	NC_000016.10:g.68234071C>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly123Trp	rs769121857	missense variant	-	NC_000016.10:g.68234068C>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly123Arg	rs769121857	missense variant	-	NC_000016.10:g.68234068C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly123Val	rs749735281	missense variant	-	NC_000016.10:g.68234067C>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gly124Asp	rs746382652	missense variant	-	NC_000016.10:g.68234064C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro125His	rs780709415	missense variant	-	NC_000016.10:g.68234061G>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro125Ser	rs1304616140	missense variant	-	NC_000016.10:g.68234062G>A	gnomAD
ESRP2	Q9H6T0	p.Met127Thr	rs1339664401	missense variant	-	NC_000016.10:g.68234055A>G	gnomAD
ESRP2	Q9H6T0	p.Met127Val	rs777457807	missense variant	-	NC_000016.10:g.68234056T>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Met127Leu	rs777457807	missense variant	-	NC_000016.10:g.68234056T>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Leu128Phe	rs758188895	missense variant	-	NC_000016.10:g.68234053G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr130Ile	rs1361146706	missense variant	-	NC_000016.10:g.68234046G>A	TOPMed
ESRP2	Q9H6T0	p.Asp131Asn	rs1477756728	missense variant	-	NC_000016.10:g.68234044C>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp131Tyr	rs1477756728	missense variant	-	NC_000016.10:g.68234044C>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu136Phe	rs372580669	missense variant	-	NC_000016.10:g.68234027C>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg137Ter	rs1250892802	stop gained	-	NC_000016.10:g.68234026G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg137Gln	rs753751967	missense variant	-	NC_000016.10:g.68234025C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val139Ala	rs375942085	missense variant	-	NC_000016.10:g.68234019A>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro142Ala	rs751795357	missense variant	-	NC_000016.10:g.68234011G>C	ExAC
ESRP2	Q9H6T0	p.del142TerTrpAlaAlaUnk	rs769868527	stop gained	-	NC_000016.10:g.68234011_68234012insCTGCTGCCCATCA	ExAC
ESRP2	Q9H6T0	p.Glu143Ter	rs142161656	stop gained	-	NC_000016.10:g.68234008C>A	ESP,ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu143Lys	rs142161656	missense variant	-	NC_000016.10:g.68234008C>T	ESP,ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala144Thr	rs1390064722	missense variant	-	NC_000016.10:g.68234005C>T	TOPMed
ESRP2	Q9H6T0	p.Ser145Pro	rs1435004207	missense variant	-	NC_000016.10:g.68234002A>G	gnomAD
ESRP2	Q9H6T0	p.Lys147Thr	rs770313911	missense variant	-	NC_000016.10:g.68233995T>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Lys147ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68233995T>-	NCI-TCGA
ESRP2	Q9H6T0	p.Val150Met	rs996780718	missense variant	-	NC_000016.10:g.68233876C>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro152Ser	rs117942778	missense variant	-	NC_000016.10:g.68233870G>A	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Asp153Asn	rs78705766	missense variant	-	NC_000016.10:g.68233867C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Met154Thr	rs549404770	missense variant	-	NC_000016.10:g.68233863A>G	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Phe155Ser	rs747767489	missense variant	-	NC_000016.10:g.68233860A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ser157Phe	rs774040716	missense variant	-	NC_000016.10:g.68233854G>A	ExAC,TOPMed
ESRP2	Q9H6T0	p.Phe158Leu	rs1245724537	missense variant	-	NC_000016.10:g.68233850G>C	gnomAD
ESRP2	Q9H6T0	p.Tyr159His	rs768485482	missense variant	-	NC_000016.10:g.68233849A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Asp160His	rs1333022820	missense variant	-	NC_000016.10:g.68233846C>G	TOPMed
ESRP2	Q9H6T0	p.Arg162Ter	rs749106144	stop gained	-	NC_000016.10:g.68233840G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg162Gln	rs779909429	missense variant	-	NC_000016.10:g.68233839C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg163Lys	rs755954576	missense variant	-	NC_000016.10:g.68233836C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu164Ter	COSM972712	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68233834C>A	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Met167Ile	rs745830254	missense variant	-	NC_000016.10:g.68233823C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro170Leu	rs1485125589	missense variant	-	NC_000016.10:g.68233815G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro170Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68233816G>A	NCI-TCGA
ESRP2	Q9H6T0	p.Thr172Ile	rs147005145	missense variant	-	NC_000016.10:g.68233809G>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg176Ser	rs1163095463	missense variant	-	NC_000016.10:g.68233796C>G	gnomAD
ESRP2	Q9H6T0	p.Asp177Ala	rs1386803619	missense variant	-	NC_000016.10:g.68233794T>G	gnomAD
ESRP2	Q9H6T0	p.Asp177His	rs758595846	missense variant	-	NC_000016.10:g.68233795C>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Asp177Asn	rs758595846	missense variant	-	NC_000016.10:g.68233795C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Met183Thr	rs752950769	missense variant	-	NC_000016.10:g.68233776A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gln185Leu	rs765441682	missense variant	-	NC_000016.10:g.68233770T>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gln185Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68233771G>A	NCI-TCGA
ESRP2	Q9H6T0	p.Gln185His	rs755229642	missense variant	-	NC_000016.10:g.68233769C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly186Asp	rs1314978210	missense variant	-	NC_000016.10:g.68233425C>T	TOPMed
ESRP2	Q9H6T0	p.Gly186Ser	rs754097001	missense variant	-	NC_000016.10:g.68233768C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Leu189Arg	rs1238545555	missense variant	-	NC_000016.10:g.68233416A>C	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu189Pro	rs1238545555	missense variant	-	NC_000016.10:g.68233416A>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu190Lys	rs1333818422	missense variant	-	NC_000016.10:g.68233414C>T	gnomAD
ESRP2	Q9H6T0	p.Thr191Ala	rs1391963682	missense variant	-	NC_000016.10:g.68233411T>C	gnomAD
ESRP2	Q9H6T0	p.Asp192His	rs1381930766	missense variant	-	NC_000016.10:g.68233408C>G	gnomAD
ESRP2	Q9H6T0	p.Ala193Val	rs1334530104	missense variant	-	NC_000016.10:g.68233404G>A	gnomAD
ESRP2	Q9H6T0	p.Thr194Arg	rs200823185	missense variant	-	NC_000016.10:g.68233401G>C	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu195Gly	rs749449404	missense variant	-	NC_000016.10:g.68233398T>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu195Lys	rs768824720	missense variant	-	NC_000016.10:g.68233399C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu195Gln	rs768824720	missense variant	-	NC_000016.10:g.68233399C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp196Gly	rs1362484652	missense variant	-	NC_000016.10:g.68233395T>C	gnomAD
ESRP2	Q9H6T0	p.Asp197Glu	rs1243079844	missense variant	-	NC_000016.10:g.68233391G>C	gnomAD
ESRP2	Q9H6T0	p.Asp197Asn	rs756468452	missense variant	-	NC_000016.10:g.68233393C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gly199Val	rs373477664	missense variant	-	NC_000016.10:g.68233386C>A	ESP,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly199Glu	rs373477664	missense variant	-	NC_000016.10:g.68233386C>T	ESP,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val200Ala	rs760018503	missense variant	-	NC_000016.10:g.68233383A>G	gnomAD
ESRP2	Q9H6T0	p.Trp201Gly	rs781557581	missense variant	-	NC_000016.10:g.68233381A>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu202Asp	rs1348803949	missense variant	-	NC_000016.10:g.68233376T>G	gnomAD
ESRP2	Q9H6T0	p.Thr205Ser	rs1197199290	missense variant	-	NC_000016.10:g.68233369T>A	TOPMed
ESRP2	Q9H6T0	p.Thr205Ile	rs1262331470	missense variant	-	NC_000016.10:g.68233368G>A	gnomAD
ESRP2	Q9H6T0	p.Met206Ile	rs1237927983	missense variant	-	NC_000016.10:g.68233364C>T	TOPMed
ESRP2	Q9H6T0	p.Ile210Thr	rs757720822	missense variant	-	NC_000016.10:g.68233353A>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ile210Met	rs201764029	missense variant	-	NC_000016.10:g.68233352G>C	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Leu211Phe	rs763488897	missense variant	-	NC_000016.10:g.68233351G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.His212Gln	rs1411016480	missense variant	-	NC_000016.10:g.68233346A>T	TOPMed
ESRP2	Q9H6T0	p.His212Arg	rs565467512	missense variant	-	NC_000016.10:g.68233347T>C	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.His212Tyr	rs907282912	missense variant	-	NC_000016.10:g.68233348G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu213Val	rs752283220	missense variant	-	NC_000016.10:g.68233345G>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro217His	rs1289016770	missense variant	-	NC_000016.10:g.68233332G>T	gnomAD
ESRP2	Q9H6T0	p.Ser218Asn	rs764912546	missense variant	-	NC_000016.10:g.68233329C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ser223Ter	rs923854670	stop gained	-	NC_000016.10:g.68232803G>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser223Leu	rs923854670	missense variant	-	NC_000016.10:g.68232803G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu226Lys	rs574031396	missense variant	-	NC_000016.10:g.68232795C>T	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val227Met	rs778406538	missense variant	-	NC_000016.10:g.68232792C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ile228Met	rs971375656	missense variant	-	NC_000016.10:g.68232787T>C	TOPMed
ESRP2	Q9H6T0	p.Gln230AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68232784_68232785insT	NCI-TCGA
ESRP2	Q9H6T0	p.Glu233Gln	rs149148189	missense variant	-	NC_000016.10:g.68232774C>G	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu233Lys	rs149148189	missense variant	-	NC_000016.10:g.68232774C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr234Met	rs200159546	missense variant	-	NC_000016.10:g.68232770G>A	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr234Lys	rs200159546	missense variant	-	NC_000016.10:g.68232770G>T	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr234Arg	rs200159546	missense variant	-	NC_000016.10:g.68232770G>C	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Cys237Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68232762A>G	NCI-TCGA
ESRP2	Q9H6T0	p.Ser238Pro	rs771195938	missense variant	-	NC_000016.10:g.68232716A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ser240Thr	rs747332204	missense variant	-	NC_000016.10:g.68232709C>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ser240Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68232709C>T	NCI-TCGA
ESRP2	Q9H6T0	p.Thr241Ile	rs1201806793	missense variant	-	NC_000016.10:g.68232706G>A	gnomAD
ESRP2	Q9H6T0	p.Val242Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68232703A>T	NCI-TCGA
ESRP2	Q9H6T0	p.Pro243Ser	rs375710610	missense variant	-	NC_000016.10:g.68232701G>A	ESP,TOPMed
ESRP2	Q9H6T0	p.Pro243Leu	rs557608066	missense variant	-	NC_000016.10:g.68232700G>A	1000Genomes
ESRP2	Q9H6T0	p.Cys244Tyr	rs545442165	missense variant	-	NC_000016.10:g.68232697C>T	1000Genomes,ExAC,TOPMed
ESRP2	Q9H6T0	p.Pro245Thr	rs553313524	missense variant	-	NC_000016.10:g.68232695G>T	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Ser247Cys	rs1025909942	missense variant	-	NC_000016.10:g.68232689T>A	TOPMed
ESRP2	Q9H6T0	p.Ser247Arg	rs1439491631	missense variant	-	NC_000016.10:g.68232687G>T	gnomAD
ESRP2	Q9H6T0	p.Ser248Asn	rs145203951	missense variant	-	NC_000016.10:g.68232685C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val252Ala	rs1428422396	missense variant	-	NC_000016.10:g.68232673A>G	TOPMed
ESRP2	Q9H6T0	p.Glu256Lys	rs1202499985	missense variant	-	NC_000016.10:g.68232662C>T	gnomAD
ESRP2	Q9H6T0	p.Val259Leu	rs1005464993	missense variant	-	NC_000016.10:g.68232653C>G	TOPMed
ESRP2	Q9H6T0	p.Arg260Gln	rs755729355	missense variant	-	NC_000016.10:g.68232649C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg260Trp	rs367985814	missense variant	-	NC_000016.10:g.68232650G>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala261Val	rs750177300	missense variant	-	NC_000016.10:g.68232646G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg262His	rs35234073	missense variant	-	NC_000016.10:g.68232643C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg262Leu	rs35234073	missense variant	-	NC_000016.10:g.68232643C>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg262Pro	rs35234073	missense variant	-	NC_000016.10:g.68232643C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu264Val	rs759674670	missense variant	-	NC_000016.10:g.68232638A>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro265Leu	rs776695697	missense variant	-	NC_000016.10:g.68232634G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Trp266Ter	rs1178570209	stop gained	-	NC_000016.10:g.68232631C>T	gnomAD
ESRP2	Q9H6T0	p.Ser268Ala	rs1415228587	missense variant	-	NC_000016.10:g.68232626A>C	gnomAD
ESRP2	Q9H6T0	p.Ser269Leu	rs370687734	missense variant	-	NC_000016.10:g.68232622G>A	ESP,TOPMed
ESRP2	Q9H6T0	p.Asp270Ala	rs1407069822	missense variant	-	NC_000016.10:g.68232619T>G	gnomAD
ESRP2	Q9H6T0	p.Gln271Arg	rs149976604	missense variant	-	NC_000016.10:g.68232616T>C	ESP,ExAC
ESRP2	Q9H6T0	p.Gln271His	rs1329079887	missense variant	-	NC_000016.10:g.68232615C>G	TOPMed
ESRP2	Q9H6T0	p.Val273Met	rs773583262	missense variant	-	NC_000016.10:g.68232611C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg275Cys	rs200139644	missense variant	-	NC_000016.10:g.68232605G>A	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg275Pro	rs748645452	missense variant	-	NC_000016.10:g.68232604C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg275His	rs748645452	missense variant	-	NC_000016.10:g.68232604C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Lys278Gln	rs779622057	missense variant	-	NC_000016.10:g.68232596T>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Lys278Glu	rs779622057	missense variant	-	NC_000016.10:g.68232596T>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly279Val	rs1218954005	missense variant	-	NC_000016.10:g.68232592C>A	TOPMed
ESRP2	Q9H6T0	p.Asn281Lys	rs754535077	missense variant	-	NC_000016.10:g.68232585G>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Asn281Ser	rs1244410963	missense variant	-	NC_000016.10:g.68232586T>C	gnomAD
ESRP2	Q9H6T0	p.Val282Met	rs748744010	missense variant	-	NC_000016.10:g.68232584C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala283Val	rs779726934	missense variant	-	NC_000016.10:g.68232580G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg284Ser	rs991488842	missense variant	-	NC_000016.10:g.68232503C>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala288Glu	COSM435569	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68232492G>T	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Leu289Phe	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68232490G>A	NCI-TCGA
ESRP2	Q9H6T0	p.Leu291Phe	rs139310835	missense variant	-	NC_000016.10:g.68232484G>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu291Ile	rs139310835	missense variant	-	NC_000016.10:g.68232484G>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu291Val	rs139310835	missense variant	-	NC_000016.10:g.68232484G>C	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala293Thr	rs867849364	missense variant	-	NC_000016.10:g.68232478C>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gln294Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68232474T>A	NCI-TCGA
ESRP2	Q9H6T0	p.Arg296Cys	rs758291204	missense variant	-	NC_000016.10:g.68232469G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg296His	rs146812395	missense variant	-	NC_000016.10:g.68232468C>T	ESP,ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg296Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68232469G>T	NCI-TCGA
ESRP2	Q9H6T0	p.Glu300Asp	rs529383734	missense variant	-	NC_000016.10:g.68232455C>A	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu300Lys	rs750654094	missense variant	-	NC_000016.10:g.68232457C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala301Val	rs762143220	missense variant	-	NC_000016.10:g.68232453G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Leu302Phe	rs774810443	missense variant	-	NC_000016.10:g.68232451G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg304His	rs763528773	missense variant	-	NC_000016.10:g.68232444C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg304Cys	rs769177063	missense variant	-	NC_000016.10:g.68232445G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val306Gly	rs1467516222	missense variant	-	NC_000016.10:g.68232438A>C	TOPMed
ESRP2	Q9H6T0	p.Asp307Glu	rs775916225	missense variant	-	NC_000016.10:g.68232434G>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser308Gly	rs769339536	missense variant	-	NC_000016.10:g.68232433T>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ser308Ile	rs745305625	missense variant	-	NC_000016.10:g.68232432C>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser308Thr	rs745305625	missense variant	-	NC_000016.10:g.68232432C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu309Lys	rs140297966	missense variant	-	NC_000016.10:g.68232430C>T	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg311Trp	rs1307044181	missense variant	-	NC_000016.10:g.68232424G>A	gnomAD
ESRP2	Q9H6T0	p.Arg311Gln	rs746694490	missense variant	-	NC_000016.10:g.68232423C>T	ExAC,TOPMed
ESRP2	Q9H6T0	p.Asp312Asn	rs1432932954	missense variant	-	NC_000016.10:g.68232421C>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp312Glu	COSM4941316	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68232419G>T	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Ala314Val	rs371060384	missense variant	-	NC_000016.10:g.68232414G>A	ESP,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gln316Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68232409G>A	NCI-TCGA
ESRP2	Q9H6T0	p.Arg317Thr	rs1341373289	missense variant	-	NC_000016.10:g.68232405C>G	gnomAD
ESRP2	Q9H6T0	p.His318Gln	rs1369400665	missense variant	-	NC_000016.10:g.68232401G>T	gnomAD
ESRP2	Q9H6T0	p.His318Leu	rs1402905015	missense variant	-	NC_000016.10:g.68232402T>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.His318Pro	rs1402905015	missense variant	-	NC_000016.10:g.68232402T>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.His321Pro	rs778783915	missense variant	-	NC_000016.10:g.68232393T>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.His321Tyr	rs372602619	missense variant	-	NC_000016.10:g.68232394G>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.His321Arg	NCI-TCGA novel	inframe deletion	-	NC_000016.10:g.68232388_68232393CCATGT>-	NCI-TCGA
ESRP2	Q9H6T0	p.Met322Val	rs370503768	missense variant	-	NC_000016.10:g.68232391T>C	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly323Arg	rs1233166891	missense variant	-	NC_000016.10:g.68232388C>G	TOPMed
ESRP2	Q9H6T0	p.Val324Ile	rs376455570	missense variant	-	NC_000016.10:g.68232385C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg325Cys	rs757516890	missense variant	-	NC_000016.10:g.68232382G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg325His	rs751873605	missense variant	-	NC_000016.10:g.68232381C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu328Lys	rs764538202	missense variant	-	NC_000016.10:g.68232373C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Val329Met	rs764341852	missense variant	-	NC_000016.10:g.68232288C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Tyr330Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68232284T>G	NCI-TCGA
ESRP2	Q9H6T0	p.Lys331Asn	rs758655932	missense variant	-	NC_000016.10:g.68232280T>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala332Val	rs752955291	missense variant	-	NC_000016.10:g.68232278G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Thr333Ile	rs140116898	missense variant	-	NC_000016.10:g.68232275G>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly334Arg	rs759927611	missense variant	-	NC_000016.10:g.68232273C>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gly334Ala	rs1342927639	missense variant	-	NC_000016.10:g.68232272C>G	TOPMed
ESRP2	Q9H6T0	p.Glu335Lys	rs765862714	missense variant	-	NC_000016.10:g.68232270C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu335Val	rs760246952	missense variant	-	NC_000016.10:g.68232269T>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu335Gln	rs765862714	missense variant	-	NC_000016.10:g.68232270C>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu336Val	rs1287881289	missense variant	-	NC_000016.10:g.68232266T>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu336Gly	rs1287881289	missense variant	-	NC_000016.10:g.68232266T>C	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu336Gln	COSM1302160	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68232267C>G	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Phe337Leu	rs1453523310	missense variant	-	NC_000016.10:g.68232262A>T	gnomAD
ESRP2	Q9H6T0	p.Lys339Asn	rs1161014654	missense variant	-	NC_000016.10:g.68232256C>A	gnomAD
ESRP2	Q9H6T0	p.Lys339Met	rs375177301	missense variant	-	NC_000016.10:g.68232257T>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Lys339Arg	rs375177301	missense variant	-	NC_000016.10:g.68232257T>C	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ile340Thr	rs146163286	missense variant	-	NC_000016.10:g.68232254A>G	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ile340Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68232255T>C	NCI-TCGA
ESRP2	Q9H6T0	p.Ala341Gly	rs1384750837	missense variant	-	NC_000016.10:g.68232251G>C	gnomAD
ESRP2	Q9H6T0	p.Gly342Glu	rs747861789	missense variant	-	NC_000016.10:g.68232248C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gly342Ala	rs747861789	missense variant	-	NC_000016.10:g.68232248C>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gly343Ser	rs773981208	missense variant	-	NC_000016.10:g.68232246C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gly343Cys	rs773981208	missense variant	-	NC_000016.10:g.68232246C>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Thr344Ile	rs769802129	missense variant	-	NC_000016.10:g.68232100G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu347Lys	rs1330838328	missense variant	-	NC_000016.10:g.68232092C>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala349Val	rs777968585	missense variant	-	NC_000016.10:g.68232085G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg350His	rs772241122	missense variant	-	NC_000016.10:g.68232082C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg350Pro	COSM3511191	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68232082C>G	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Ser353Thr	rs779263735	missense variant	-	NC_000016.10:g.68232074A>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg354Trp	rs755162828	missense variant	-	NC_000016.10:g.68232071G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg354Gln	rs1033623250	missense variant	-	NC_000016.10:g.68232070C>T	gnomAD
ESRP2	Q9H6T0	p.Glu355Lys	rs754144961	missense variant	-	NC_000016.10:g.68232068C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Asp356Glu	rs756576950	missense variant	-	NC_000016.10:g.68232063G>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp356Glu	rs756576950	missense variant	-	NC_000016.10:g.68232063G>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gln357Leu	rs1247073408	missense variant	-	NC_000016.10:g.68232061T>A	TOPMed
ESRP2	Q9H6T0	p.Val358Met	rs1200995348	missense variant	-	NC_000016.10:g.68232059C>T	gnomAD
ESRP2	Q9H6T0	p.Val358Ala	rs1386190729	missense variant	-	NC_000016.10:g.68232058A>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg361Gln	rs186017472	missense variant	-	NC_000016.10:g.68232049C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg361Trp	rs750972402	missense variant	-	NC_000016.10:g.68232050G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg363Trp	rs1319335915	missense variant	-	NC_000016.10:g.68232044G>A	gnomAD
ESRP2	Q9H6T0	p.Arg363Gln	rs201908706	missense variant	-	NC_000016.10:g.68232043C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser368Leu	rs763741902	missense variant	-	NC_000016.10:g.68232028G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr372Met	rs769751021	missense variant	-	NC_000016.10:g.68232016G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr372Lys	rs769751021	missense variant	-	NC_000016.10:g.68232016G>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp373Glu	rs148578202	missense variant	-	NC_000016.10:g.68232012G>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp373Asn	rs776765965	missense variant	-	NC_000016.10:g.68232014C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Val374Met	rs748194320	missense variant	-	NC_000016.10:g.68232011C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro380Thr	rs537285679	missense variant	-	NC_000016.10:g.68231993G>T	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro380Gln	rs570270415	missense variant	-	NC_000016.10:g.68231992G>T	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Cys382Gly	rs149234558	missense variant	-	NC_000016.10:g.68231987A>C	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Cys382Ser	rs149234558	missense variant	-	NC_000016.10:g.68231987A>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly386Ala	rs751027219	missense variant	-	NC_000016.10:g.68231974C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly387Ala	rs763539855	missense variant	-	NC_000016.10:g.68231971C>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu389Lys	rs540156390	missense variant	-	NC_000016.10:g.68231966C>T	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu392Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68231956A>C	NCI-TCGA
ESRP2	Q9H6T0	p.Arg395Cys	rs752446082	missense variant	-	NC_000016.10:g.68231948G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg395His	rs765108665	missense variant	-	NC_000016.10:g.68231947C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg395Leu	rs765108665	missense variant	-	NC_000016.10:g.68231947C>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly399Val	rs199619918	missense variant	-	NC_000016.10:g.68231935C>A	gnomAD
ESRP2	Q9H6T0	p.Arg400Trp	rs934245575	missense variant	-	NC_000016.10:g.68231933G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg400Gln	rs776296719	missense variant	-	NC_000016.10:g.68231932C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro401Leu	rs1447308697	missense variant	-	NC_000016.10:g.68231929G>A	gnomAD
ESRP2	Q9H6T0	p.Ala405Gly	rs1193303164	missense variant	-	NC_000016.10:g.68231917G>C	gnomAD
ESRP2	Q9H6T0	p.Phe406Leu	rs894939916	missense variant	-	NC_000016.10:g.68231915A>G	TOPMed
ESRP2	Q9H6T0	p.Ala407Thr	rs774450234	missense variant	-	NC_000016.10:g.68231912C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Phe409Ser	rs371881233	missense variant	-	NC_000016.10:g.68231905A>G	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Phe409Leu	rs1359639654	missense variant	-	NC_000016.10:g.68231906A>G	gnomAD
ESRP2	Q9H6T0	p.Glu413Lys	rs1447077824	missense variant	-	NC_000016.10:g.68231894C>T	TOPMed
ESRP2	Q9H6T0	p.Ala417Thr	rs749493606	missense variant	-	NC_000016.10:g.68231882C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg420His	rs547507047	missense variant	-	NC_000016.10:g.68231872C>T	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg420Cys	rs201685431	missense variant	-	NC_000016.10:g.68231873G>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg420Leu	rs547507047	missense variant	-	NC_000016.10:g.68231872C>A	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg420Ser	rs201685431	missense variant	-	NC_000016.10:g.68231873G>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg421Lys	rs374327564	missense variant	-	NC_000016.10:g.68231869C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Lys423Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68231863T>C	NCI-TCGA
ESRP2	Q9H6T0	p.Gly424Ser	rs757738856	missense variant	-	NC_000016.10:g.68231861C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Met425Arg	rs138767086	missense variant	-	NC_000016.10:g.68231857A>C	ESP,ExAC,gnomAD
ESRP2	Q9H6T0	p.Met425Val	rs1215157210	missense variant	-	NC_000016.10:g.68231858T>C	gnomAD
ESRP2	Q9H6T0	p.Leu426Pro	rs1310547940	missense variant	-	NC_000016.10:g.68231854A>G	gnomAD
ESRP2	Q9H6T0	p.Gly427Val	rs1227843650	missense variant	-	NC_000016.10:g.68231851C>A	gnomAD
ESRP2	Q9H6T0	p.Lys428Arg	rs1048412808	missense variant	-	NC_000016.10:g.68231848T>C	TOPMed
ESRP2	Q9H6T0	p.Arg429Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68231846G>A	NCI-TCGA
ESRP2	Q9H6T0	p.Ile431Val	rs1448991657	missense variant	-	NC_000016.10:g.68231840T>C	gnomAD
ESRP2	Q9H6T0	p.Ile431Thr	rs764914525	missense variant	-	NC_000016.10:g.68231839A>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Phe434Leu	rs1296106995	missense variant	-	NC_000016.10:g.68231829G>T	gnomAD
ESRP2	Q9H6T0	p.Arg435Gln	rs145868265	missense variant	-	NC_000016.10:g.68231827C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg435Gly	rs1421230974	missense variant	-	NC_000016.10:g.68231828G>C	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg435Trp	COSM4851904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231828G>A	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Ala439Gly	rs753621550	missense variant	-	NC_000016.10:g.68231815G>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala439Val	COSM972704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231815G>A	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Glu440Lys	rs1477283149	missense variant	-	NC_000016.10:g.68231813C>T	gnomAD
ESRP2	Q9H6T0	p.Gln442Arg	rs1436266756	missense variant	-	NC_000016.10:g.68231806T>C	TOPMed
ESRP2	Q9H6T0	p.Val444Ala	rs1317335012	missense variant	-	NC_000016.10:g.68231693A>G	gnomAD
ESRP2	Q9H6T0	p.Leu445Phe	COSM1479014	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231689C>G	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Asn446Asp	rs779880380	missense variant	-	NC_000016.10:g.68231688T>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg447Leu	rs750375203	missense variant	-	NC_000016.10:g.68231684C>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg447His	rs750375203	missense variant	-	NC_000016.10:g.68231684C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg447Cys	rs1357935683	missense variant	-	NC_000016.10:g.68231685G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala449Thr	rs1195823861	missense variant	-	NC_000016.10:g.68231679C>T	TOPMed
ESRP2	Q9H6T0	p.Leu454Arg	rs1376895984	missense variant	-	NC_000016.10:g.68231663A>C	TOPMed
ESRP2	Q9H6T0	p.Leu457Pro	rs1397473449	missense variant	-	NC_000016.10:g.68231654A>G	gnomAD
ESRP2	Q9H6T0	p.Thr458Ala	rs1332999932	missense variant	-	NC_000016.10:g.68231652T>C	gnomAD
ESRP2	Q9H6T0	p.Pro460Leu	rs759779188	missense variant	-	NC_000016.10:g.68231645G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro460Gln	rs759779188	missense variant	-	NC_000016.10:g.68231645G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro463Leu	rs771319510	missense variant	-	NC_000016.10:g.68231636G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ile464Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68231633A>C	NCI-TCGA
ESRP2	Q9H6T0	p.Pro465His	rs760881125	missense variant	-	NC_000016.10:g.68231630G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro470Leu	rs773724907	missense variant	-	NC_000016.10:g.68231615G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro470His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68231615G>T	NCI-TCGA
ESRP2	Q9H6T0	p.Gly473Ala	rs772659010	missense variant	-	NC_000016.10:g.68231606C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly473Glu	rs772659010	missense variant	-	NC_000016.10:g.68231606C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Cys476Tyr	rs1200817796	missense variant	-	NC_000016.10:g.68231597C>T	gnomAD
ESRP2	Q9H6T0	p.Cys476Arg	rs1236423381	missense variant	-	NC_000016.10:g.68231598A>G	gnomAD
ESRP2	Q9H6T0	p.Val477Ile	rs182283545	missense variant	-	NC_000016.10:g.68231595C>T	1000Genomes,ExAC
ESRP2	Q9H6T0	p.Arg478Cys	rs778537506	missense variant	-	NC_000016.10:g.68231592G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg478Gly	rs778537506	missense variant	-	NC_000016.10:g.68231592G>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg478His	rs768101534	missense variant	-	NC_000016.10:g.68231591C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg480Gln	rs201907734	missense variant	-	NC_000016.10:g.68231585C>T	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg480Ter	rs1239299956	stop gained	-	NC_000016.10:g.68231586G>A	gnomAD
ESRP2	Q9H6T0	p.Thr485Ala	rs755800105	missense variant	-	NC_000016.10:g.68231571T>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr485Lys	rs780992155	missense variant	-	NC_000016.10:g.68231570G>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr485Met	rs780992155	missense variant	-	NC_000016.10:g.68231570G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala486Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68231568C>T	NCI-TCGA
ESRP2	Q9H6T0	p.Ile488Thr	rs146714679	missense variant	-	NC_000016.10:g.68231561A>G	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Ser493Asn	rs1488917654	missense variant	-	NC_000016.10:g.68231546C>T	TOPMed
ESRP2	Q9H6T0	p.Ser493Arg	rs1174887477	missense variant	-	NC_000016.10:g.68231545G>T	gnomAD
ESRP2	Q9H6T0	p.Leu495Pro	rs1207353876	missense variant	-	NC_000016.10:g.68231540A>G	TOPMed
ESRP2	Q9H6T0	p.Gly496Trp	rs146975136	missense variant	-	NC_000016.10:g.68231538C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly496Arg	rs146975136	missense variant	-	NC_000016.10:g.68231538C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu497Asp	rs753956951	missense variant	-	NC_000016.10:g.68231533C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu497GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68231534_68231535insC	NCI-TCGA
ESRP2	Q9H6T0	p.Ile502Val	rs766453847	missense variant	-	NC_000016.10:g.68231520T>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg503Leu	rs140405620	missense variant	-	NC_000016.10:g.68231516C>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg503Trp	rs372908528	missense variant	-	NC_000016.10:g.68231517G>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg503Gln	rs140405620	missense variant	-	NC_000016.10:g.68231516C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro504Ser	rs1380321801	missense variant	-	NC_000016.10:g.68231514G>A	TOPMed
ESRP2	Q9H6T0	p.Gly506Ser	rs775059603	missense variant	-	NC_000016.10:g.68231508C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly506Val	rs1280777222	missense variant	-	NC_000016.10:g.68231507C>A	gnomAD
ESRP2	Q9H6T0	p.Val507Ala	rs1351440046	missense variant	-	NC_000016.10:g.68231504A>G	gnomAD
ESRP2	Q9H6T0	p.Val507Leu	rs768209581	missense variant	-	NC_000016.10:g.68231505C>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Met509ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68231483_68231498TGCTGGTTGAGCACCA>-	NCI-TCGA
ESRP2	Q9H6T0	p.Met509Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68231499T>C	NCI-TCGA
ESRP2	Q9H6T0	p.Val510Met	rs1287994453	missense variant	-	NC_000016.10:g.68231496C>T	gnomAD
ESRP2	Q9H6T0	p.Leu511Val	rs748683919	missense variant	-	NC_000016.10:g.68231493G>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Asn512His	rs775083128	missense variant	-	NC_000016.10:g.68231490T>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asn512Asp	rs775083128	missense variant	-	NC_000016.10:g.68231490T>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gln514His	rs1310204853	missense variant	-	NC_000016.10:g.68231482C>A	gnomAD
ESRP2	Q9H6T0	p.Arg516Trp	rs779561626	missense variant	-	NC_000016.10:g.68231373G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg516Pro	rs745503556	missense variant	-	NC_000016.10:g.68231372C>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg516Gln	rs745503556	missense variant	-	NC_000016.10:g.68231372C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro517Ala	rs1161550027	missense variant	-	NC_000016.10:g.68231370G>C	gnomAD
ESRP2	Q9H6T0	p.Ser518Leu	rs143677348	missense variant	-	NC_000016.10:g.68231366G>A	ESP,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp520Asn	rs374057525	missense variant	-	NC_000016.10:g.68231361C>T	ESP,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gln524Ter	rs1304919139	stop gained	-	NC_000016.10:g.68231349G>A	TOPMed
ESRP2	Q9H6T0	p.Met525Ile	rs746747952	missense variant	-	NC_000016.10:g.68231344C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Thr526Ser	rs777644960	missense variant	-	NC_000016.10:g.68231343T>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Thr526Ile	COSM6079460	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231342G>A	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Ala528Val	rs3743738	missense variant	-	NC_000016.10:g.68231336G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu529Lys	rs756321854	missense variant	-	NC_000016.10:g.68231334C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg530Gly	rs142168544	missense variant	-	NC_000016.10:g.68231331G>C	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg530Gln	rs201090992	missense variant	-	NC_000016.10:g.68231330C>T	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg530Ter	rs142168544	stop gained	-	NC_000016.10:g.68231331G>A	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala531Thr	rs201772356	missense variant	-	NC_000016.10:g.68231328C>T	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala535Thr	rs1333060080	missense variant	-	NC_000016.10:g.68231316C>T	TOPMed
ESRP2	Q9H6T0	p.Arg537Cys	rs753303292	missense variant	-	NC_000016.10:g.68231310G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg537Gly	rs753303292	missense variant	-	NC_000016.10:g.68231310G>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg537His	rs1331040877	missense variant	-	NC_000016.10:g.68231309C>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Lys540Glu	COSM972700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231301T>C	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Lys541Met	rs1395287028	missense variant	-	NC_000016.10:g.68231297T>A	gnomAD
ESRP2	Q9H6T0	p.Lys541Glu	rs758979405	missense variant	-	NC_000016.10:g.68231298T>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Lys544Glu	rs776129901	missense variant	-	NC_000016.10:g.68231289T>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu545Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68231285T>A	NCI-TCGA
ESRP2	Q9H6T0	p.Glu545Asp	COSM70648	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231284C>G	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Arg546His	rs146824182	missense variant	-	NC_000016.10:g.68231282C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg546Cys	rs760351104	missense variant	-	NC_000016.10:g.68231283G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Tyr547Ter	rs148690211	stop gained	-	NC_000016.10:g.68231278G>T	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Tyr547Ser	rs193102233	missense variant	-	NC_000016.10:g.68231279T>G	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val548Met	rs570580551	missense variant	-	NC_000016.10:g.68231277C>T	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu549Ala	rs1237028167	missense variant	-	NC_000016.10:g.68231273T>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu549Gly	rs1237028167	missense variant	-	NC_000016.10:g.68231273T>C	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val550Met	rs757214739	missense variant	-	NC_000016.10:g.68231271C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Cys553Gly	rs781448145	missense variant	-	NC_000016.10:g.68231262A>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Cys553Arg	rs781448145	missense variant	-	NC_000016.10:g.68231262A>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Cys553Ter	rs757518093	stop gained	-	NC_000016.10:g.68231260A>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Glu556Lys	rs1395794211	missense variant	-	NC_000016.10:g.68231253C>T	TOPMed
ESRP2	Q9H6T0	p.Glu557Lys	rs1273636636	missense variant	-	NC_000016.10:g.68231250C>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu557Asp	rs143678917	missense variant	-	NC_000016.10:g.68231248C>G	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser559Thr	rs189249637	missense variant	-	NC_000016.10:g.68231243C>G	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Ser559Gly	rs777982338	missense variant	-	NC_000016.10:g.68231244T>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg560Gln	rs753006606	missense variant	-	NC_000016.10:g.68231240C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg560Ter	COSM3421104	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.68231241G>A	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Met563Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68231232T>C	NCI-TCGA
ESRP2	Q9H6T0	p.Met563Thr	rs1413747127	missense variant	-	NC_000016.10:g.68231231A>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly564Glu	rs1174314411	missense variant	-	NC_000016.10:g.68231228C>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly564Ala	rs1174314411	missense variant	-	NC_000016.10:g.68231228C>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly564Arg	rs765673788	missense variant	-	NC_000016.10:g.68231229C>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly565Asp	rs1008336783	missense variant	-	NC_000016.10:g.68231225C>T	TOPMed
ESRP2	Q9H6T0	p.Gly565Ser	rs1210363962	missense variant	-	NC_000016.10:g.68231226C>T	gnomAD
ESRP2	Q9H6T0	p.Leu567Ser	rs760057049	missense variant	-	NC_000016.10:g.68231219A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gly568Asp	rs1212384012	missense variant	-	NC_000016.10:g.68231216C>T	TOPMed
ESRP2	Q9H6T0	p.Arg569Cys	rs370690332	missense variant	-	NC_000016.10:g.68231214G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg569His	rs949284278	missense variant	-	NC_000016.10:g.68231213C>T	gnomAD
ESRP2	Q9H6T0	p.Arg569Gly	rs370690332	missense variant	-	NC_000016.10:g.68231214G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser570Asn	rs1186379109	missense variant	-	NC_000016.10:g.68231210C>T	gnomAD
ESRP2	Q9H6T0	p.Ser570Gly	COSM3818330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68231211T>C	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Met572Thr	rs772977411	missense variant	-	NC_000016.10:g.68231204A>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser573Phe	rs184799308	missense variant	-	NC_000016.10:g.68231201G>A	1000Genomes,gnomAD
ESRP2	Q9H6T0	p.Pro575Leu	rs1213388558	missense variant	-	NC_000016.10:g.68231195G>A	gnomAD
ESRP2	Q9H6T0	p.Pro576Ala	rs1194160642	missense variant	-	NC_000016.10:g.68231193G>C	TOPMed
ESRP2	Q9H6T0	p.Pro576Arg	rs1349233707	missense variant	-	NC_000016.10:g.68231192G>C	gnomAD
ESRP2	Q9H6T0	p.Cys577Arg	rs771762193	missense variant	-	NC_000016.10:g.68231190A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Cys577Tyr	rs751558791	missense variant	-	NC_000016.10:g.68231189C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro585Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68231015G>A	NCI-TCGA
ESRP2	Q9H6T0	p.Thr586Ile	rs1185355698	missense variant	-	NC_000016.10:g.68231012G>A	gnomAD
ESRP2	Q9H6T0	p.Tyr587Asn	rs775632478	missense variant	-	NC_000016.10:g.68231010A>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr588Ala	rs1220955655	missense variant	-	NC_000016.10:g.68231007T>C	gnomAD
ESRP2	Q9H6T0	p.Thr589Ser	rs145134851	missense variant	-	NC_000016.10:g.68231003G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gln591His	rs1275324694	missense variant	-	NC_000016.10:g.68230996T>A	gnomAD
ESRP2	Q9H6T0	p.Ala592Thr	rs773185656	missense variant	-	NC_000016.10:g.68230995C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala592Asp	rs1317129795	missense variant	-	NC_000016.10:g.68230994G>T	gnomAD
ESRP2	Q9H6T0	p.Pro594Thr	rs1046606817	missense variant	-	NC_000016.10:g.68230989G>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro594Arg	rs772296415	missense variant	-	NC_000016.10:g.68230988G>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro594Leu	rs772296415	missense variant	-	NC_000016.10:g.68230988G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro594Ala	rs1046606817	missense variant	-	NC_000016.10:g.68230989G>C	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr595Met	rs748358961	missense variant	-	NC_000016.10:g.68230985G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu596Phe	rs1292834329	missense variant	-	NC_000016.10:g.68230983G>A	gnomAD
ESRP2	Q9H6T0	p.Ile597Thr	rs377474438	missense variant	-	NC_000016.10:g.68230979A>G	ESP,ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro598Ala	rs1396008948	missense variant	-	NC_000016.10:g.68230977G>C	gnomAD
ESRP2	Q9H6T0	p.Pro598AspTrpAsp	NCI-TCGA novel	insertion	-	NC_000016.10:g.68230975_68230976insTCCCAATCT	NCI-TCGA
ESRP2	Q9H6T0	p.Thr599Met	rs755393677	missense variant	-	NC_000016.10:g.68230973G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr601Met	rs556537582	missense variant	-	NC_000016.10:g.68230967G>A	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala602Val	rs1251368382	missense variant	-	NC_000016.10:g.68230964G>A	TOPMed
ESRP2	Q9H6T0	p.Pro606Thr	COSM3421102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230953G>T	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Ser607Pro	rs1190499966	missense variant	-	NC_000016.10:g.68230950A>G	gnomAD
ESRP2	Q9H6T0	p.Ser607LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68230951G>-	NCI-TCGA
ESRP2	Q9H6T0	p.Ser608Thr	rs1254949948	missense variant	-	NC_000016.10:g.68230947A>T	gnomAD
ESRP2	Q9H6T0	p.Leu610Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68230941G>C	NCI-TCGA
ESRP2	Q9H6T0	p.Leu611Phe	rs763972371	missense variant	-	NC_000016.10:g.68230938G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro612Ala	rs1256346012	missense variant	-	NC_000016.10:g.68230935G>C	gnomAD
ESRP2	Q9H6T0	p.Ala614Thr	rs1206405620	missense variant	-	NC_000016.10:g.68230929C>T	gnomAD
ESRP2	Q9H6T0	p.Ala614Gly	rs762766253	missense variant	-	NC_000016.10:g.68230928G>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro617Ser	rs775436384	missense variant	-	NC_000016.10:g.68230920G>A	ExAC
ESRP2	Q9H6T0	p.Ala619Gly	rs1399418255	missense variant	-	NC_000016.10:g.68230913G>C	TOPMed
ESRP2	Q9H6T0	p.Pro620Ser	rs1372627466	missense variant	-	NC_000016.10:g.68230911G>A	gnomAD
ESRP2	Q9H6T0	p.Thr621Ile	rs1445326658	missense variant	-	NC_000016.10:g.68230907G>A	gnomAD
ESRP2	Q9H6T0	p.Pro622Ser	rs773310955	missense variant	-	NC_000016.10:g.68230905G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro627Ser	rs36054935	missense variant	-	NC_000016.10:g.68230890G>A	UniProt,dbSNP
ESRP2	Q9H6T0	p.Pro627Ser	VAR_057245	missense variant	-	NC_000016.10:g.68230890G>A	UniProt
ESRP2	Q9H6T0	p.Pro627Ser	rs36054935	missense variant	-	NC_000016.10:g.68230890G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro627Thr	rs36054935	missense variant	-	NC_000016.10:g.68230890G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr631Ile	rs749599581	missense variant	-	NC_000016.10:g.68230877G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Leu633Arg	rs1442366614	missense variant	-	NC_000016.10:g.68230871A>C	TOPMed
ESRP2	Q9H6T0	p.Tyr634His	rs965935315	missense variant	-	NC_000016.10:g.68230869A>G	TOPMed
ESRP2	Q9H6T0	p.Leu635Pro	rs1194350974	missense variant	-	NC_000016.10:g.68230865A>G	gnomAD
ESRP2	Q9H6T0	p.Asn636Lys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68230861G>T	NCI-TCGA
ESRP2	Q9H6T0	p.Thr638Ile	rs756780323	missense variant	-	NC_000016.10:g.68230856G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Thr638Lys	rs756780323	missense variant	-	NC_000016.10:g.68230856G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Tyr640His	rs1227203639	missense variant	-	NC_000016.10:g.68230851A>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Tyr640Ser	rs751115440	missense variant	-	NC_000016.10:g.68230850T>G	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Tyr640Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.68230848_68230849AG>-	NCI-TCGA
ESRP2	Q9H6T0	p.Pro645Gln	rs760582015	missense variant	-	NC_000016.10:g.68230549G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro645Ser	rs189308373	missense variant	-	NC_000016.10:g.68230550G>A	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro645Leu	rs760582015	missense variant	-	NC_000016.10:g.68230549G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro645GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68230549G>-	NCI-TCGA
ESRP2	Q9H6T0	p.Val646Gly	rs1269317785	missense variant	-	NC_000016.10:g.68230546A>C	gnomAD
ESRP2	Q9H6T0	p.Val646SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68230548_68230549insG	NCI-TCGA
ESRP2	Q9H6T0	p.Pro648Thr	rs763180619	missense variant	-	NC_000016.10:g.68230541G>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Thr649ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68230539G>-	NCI-TCGA
ESRP2	Q9H6T0	p.Thr650LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.68230535_68230536insGGTGGGGGAGACTGGGGGGCTAG	NCI-TCGA
ESRP2	Q9H6T0	p.Leu654Phe	rs1452097892	missense variant	-	NC_000016.10:g.68230523G>A	TOPMed
ESRP2	Q9H6T0	p.Thr655Ile	rs1192939507	missense variant	-	NC_000016.10:g.68230519G>A	gnomAD
ESRP2	Q9H6T0	p.Pro657Ala	rs775513480	missense variant	-	NC_000016.10:g.68230514G>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala660Thr	rs375345290	missense variant	-	NC_000016.10:g.68230505C>T	ESP,gnomAD
ESRP2	Q9H6T0	p.Ala662Val	rs1270941523	missense variant	-	NC_000016.10:g.68230498G>A	gnomAD
ESRP2	Q9H6T0	p.Ala662Thr	rs1025619576	missense variant	-	NC_000016.10:g.68230499C>T	gnomAD
ESRP2	Q9H6T0	p.Ala662Ser	rs1025619576	missense variant	-	NC_000016.10:g.68230499C>A	gnomAD
ESRP2	Q9H6T0	p.Ser663Cys	rs904868556	missense variant	-	NC_000016.10:g.68230495G>C	TOPMed
ESRP2	Q9H6T0	p.Ala664Val	rs759878710	missense variant	-	NC_000016.10:g.68230492G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Thr666Asn	rs777034822	missense variant	-	NC_000016.10:g.68230486G>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gly673Glu	rs777449153	missense variant	-	NC_000016.10:g.68230465C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala674Thr	rs747807167	missense variant	-	NC_000016.10:g.68230463C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Leu675Ter	rs373594090	stop gained	-	NC_000016.10:g.68230459A>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Leu675Trp	rs373594090	missense variant	-	NC_000016.10:g.68230459A>C	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Val676Ile	rs547646233	missense variant	-	NC_000016.10:g.68230457C>T	TOPMed
ESRP2	Q9H6T0	p.Arg677His	rs150902510	missense variant	-	NC_000016.10:g.68230453C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg677Cys	rs575114143	missense variant	-	NC_000016.10:g.68230454G>A	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Met678Ile	rs1474273790	missense variant	-	NC_000016.10:g.68230449C>T	gnomAD
ESRP2	Q9H6T0	p.Met678Thr	rs756074117	missense variant	-	NC_000016.10:g.68230450A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Gly680Arg	COSM6144907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230445C>G	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Val681Phe	rs750308853	missense variant	-	NC_000016.10:g.68230442C>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro682Gln	rs1286848865	missense variant	-	NC_000016.10:g.68230438G>T	TOPMed
ESRP2	Q9H6T0	p.Pro682Ser	rs556420688	missense variant	-	NC_000016.10:g.68230439G>A	1000Genomes,ExAC,gnomAD
ESRP2	Q9H6T0	p.Pro682Arg	COSM3818328	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230438G>C	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Tyr683His	rs1432155640	missense variant	-	NC_000016.10:g.68230436A>G	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr684Ala	rs758545181	missense variant	-	NC_000016.10:g.68230433T>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Thr684Met	rs752812867	missense variant	-	NC_000016.10:g.68230432G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala685Val	rs71393986	missense variant	-	NC_000016.10:g.68230429G>A	gnomAD
ESRP2	Q9H6T0	p.Ala685Gly	rs71393986	missense variant	-	NC_000016.10:g.68230429G>C	gnomAD
ESRP2	Q9H6T0	p.Ala685Pro	COSM1302158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230430C>G	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Gly686Ser	rs1256977216	missense variant	-	NC_000016.10:g.68230427C>T	gnomAD
ESRP2	Q9H6T0	p.Gly686Val	rs759775372	missense variant	-	NC_000016.10:g.68230426C>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Met687Leu	rs1272478216	missense variant	-	NC_000016.10:g.68230424T>A	gnomAD
ESRP2	Q9H6T0	p.Met687Thr	rs766802916	missense variant	-	NC_000016.10:g.68230423A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Lys688Arg	rs1370427686	missense variant	-	NC_000016.10:g.68230420T>C	gnomAD
ESRP2	Q9H6T0	p.Leu691Phe	rs761278650	missense variant	-	NC_000016.10:g.68230412G>A	ExAC,gnomAD
ESRP2	Q9H6T0	p.Val693Ala	rs773887741	missense variant	-	NC_000016.10:g.68230405A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Val693Ile	rs200344265	missense variant	-	NC_000016.10:g.68230406C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Tyr697His	rs768230534	missense variant	-	NC_000016.10:g.68230394A>G	ExAC,gnomAD
ESRP2	Q9H6T0	p.Ala701Thr	rs35355998	missense variant	-	NC_000016.10:g.68230309C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala701Pro	rs35355998	missense variant	-	NC_000016.10:g.68230309C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp702His	rs62637560	missense variant	-	NC_000016.10:g.68230306C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr705Asn	rs780936867	missense variant	-	NC_000016.10:g.68230296G>T	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Thr705Ile	rs780936867	missense variant	-	NC_000016.10:g.68230296G>A	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ser706Gly	rs1251038609	missense variant	-	NC_000016.10:g.68230294T>C	TOPMed
ESRP2	Q9H6T0	p.Leu707Val	COSM4062089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.68230291G>C	NCI-TCGA Cosmic
ESRP2	Q9H6T0	p.Gly711Asp	rs1183009362	missense variant	-	NC_000016.10:g.68230278C>T	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Asp712Gly	rs770807727	missense variant	-	NC_000016.10:g.68230275T>C	ExAC,gnomAD
ESRP2	Q9H6T0	p.Arg715Cys	rs569178519	missense variant	-	NC_000016.10:g.68230267G>A	1000Genomes,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg715Pro	rs371553582	missense variant	-	NC_000016.10:g.68230266C>G	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg715Leu	rs371553582	missense variant	-	NC_000016.10:g.68230266C>A	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Arg715His	rs371553582	missense variant	-	NC_000016.10:g.68230266C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Gln719Ter	rs1283660560	stop gained	-	NC_000016.10:g.68230255G>A	gnomAD
ESRP2	Q9H6T0	p.Ala720Thr	rs377274422	missense variant	-	NC_000016.10:g.68230252C>T	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala720Gly	rs374092654	missense variant	-	NC_000016.10:g.68230251G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala720Val	rs374092654	missense variant	-	NC_000016.10:g.68230251G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Ala720Pro	rs377274422	missense variant	-	NC_000016.10:g.68230252C>G	ESP,ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro721Arg	rs756381379	missense variant	-	NC_000016.10:g.68230248G>C	ExAC,TOPMed,gnomAD
ESRP2	Q9H6T0	p.Pro721Ser	rs1002896533	missense variant	-	NC_000016.10:g.68230249G>A	TOPMed,gnomAD
ESRP2	Q9H6T0	p.Glu723Lys	rs750857196	missense variant	-	NC_000016.10:g.68230243C>T	ExAC,gnomAD
ESRP2	Q9H6T0	p.Trp724Ter	rs1471417188	stop gained	-	NC_000016.10:g.68230238C>T	gnomAD
ESRP2	Q9H6T0	p.Cys726Ser	rs1415318234	missense variant	-	NC_000016.10:g.68230234A>T	gnomAD
ESRP2	Q9H6T0	p.Cys726Arg	rs1415318234	missense variant	-	NC_000016.10:g.68230234A>G	gnomAD
ESRP2	Q9H6T0	p.Cys726Trp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.68230232A>C	NCI-TCGA
CPLANE1	Q9H799	p.Ile3Arg	rs1293975447	missense variant	-	NC_000005.10:g.37247691A>C	TOPMed
CPLANE1	Q9H799	p.Leu8Phe	rs1392344659	missense variant	-	NC_000005.10:g.37247675C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr11Arg	rs1229933956	missense variant	-	NC_000005.10:g.37247667G>C	TOPMed
CPLANE1	Q9H799	p.Gly12Asp	rs1189651175	missense variant	-	NC_000005.10:g.37247664C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys17Thr	rs1450990239	missense variant	-	NC_000005.10:g.37247649T>G	TOPMed
CPLANE1	Q9H799	p.Lys17Asn	rs1204887886	missense variant	-	NC_000005.10:g.37247648T>G	TOPMed
CPLANE1	Q9H799	p.Trp19Ter	RCV000342484	nonsense	-	NC_000005.10:g.37247642C>T	ClinVar
CPLANE1	Q9H799	p.Trp19Ter	rs886041966	stop gained	-	NC_000005.10:g.37247642C>T	-
CPLANE1	Q9H799	p.Arg21Cys	rs376687322	missense variant	-	NC_000005.10:g.37247638G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg21His	rs1215626789	missense variant	-	NC_000005.10:g.37247637C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly26Val	rs776857821	missense variant	-	NC_000005.10:g.37247622C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly26Arg	rs1163835747	missense variant	-	NC_000005.10:g.37247623C>T	gnomAD
CPLANE1	Q9H799	p.Lys29Glu	rs985759463	missense variant	-	NC_000005.10:g.37245842T>C	TOPMed
CPLANE1	Q9H799	p.Glu30Ter	rs932952740	stop gained	-	NC_000005.10:g.37245839C>A	TOPMed
CPLANE1	Q9H799	p.Val32Ile	RCV000404490	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37245833C>T	ClinVar
CPLANE1	Q9H799	p.Val32Phe	rs73750959	missense variant	-	NC_000005.10:g.37245833C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val32Ile	rs73750959	missense variant	-	NC_000005.10:g.37245833C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys38Thr	rs1043094880	missense variant	-	NC_000005.10:g.37245814T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys38Glu	rs749171859	missense variant	-	NC_000005.10:g.37245815T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile40Met	rs1339874659	missense variant	-	NC_000005.10:g.37245807T>C	gnomAD
CPLANE1	Q9H799	p.Ile40Leu	rs1204171955	missense variant	-	NC_000005.10:g.37245809T>A	gnomAD
CPLANE1	Q9H799	p.Ile40Val	rs1204171955	missense variant	-	NC_000005.10:g.37245809T>C	gnomAD
CPLANE1	Q9H799	p.Ile43Phe	rs779643193	missense variant	-	NC_000005.10:g.37245800T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile43Val	rs779643193	missense variant	-	NC_000005.10:g.37245800T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu45Phe	rs755773138	missense variant	-	NC_000005.10:g.37245792C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser47Thr	rs952769625	missense variant	-	NC_000005.10:g.37245788A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile50Leu	rs1397093792	missense variant	-	NC_000005.10:g.37245779T>A	TOPMed
CPLANE1	Q9H799	p.Lys53Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37245768T>G	NCI-TCGA
CPLANE1	Q9H799	p.Pro55Ser	rs1392679014	missense variant	-	NC_000005.10:g.37245764G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu57Met	rs1350721964	missense variant	-	NC_000005.10:g.37245758G>T	gnomAD
CPLANE1	Q9H799	p.Gln58Lys	rs921380949	missense variant	-	NC_000005.10:g.37245755G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln58Ter	rs921380949	stop gained	-	NC_000005.10:g.37245755G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro59Ala	rs1307084274	missense variant	-	NC_000005.10:g.37245752G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe60Leu	rs1427434547	missense variant	-	NC_000005.10:g.37245749A>G	gnomAD
CPLANE1	Q9H799	p.Leu61Ser	rs750040861	missense variant	-	NC_000005.10:g.37245745A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Val64Ile	rs965197100	missense variant	-	NC_000005.10:g.37245737C>T	TOPMed
CPLANE1	Q9H799	p.Ile65Thr	rs912446274	missense variant	-	NC_000005.10:g.37245733A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val66Phe	rs1466959461	missense variant	-	NC_000005.10:g.37245731C>A	gnomAD
CPLANE1	Q9H799	p.Thr68Ala	rs1002297986	missense variant	-	NC_000005.10:g.37245725T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr68Ser	rs1002297986	missense variant	-	NC_000005.10:g.37245725T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr69Ala	rs1202271991	missense variant	-	NC_000005.10:g.37245722T>C	TOPMed
CPLANE1	Q9H799	p.Ser70Phe	rs767130412	missense variant	-	NC_000005.10:g.37245718G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser71Asn	rs756811653	missense variant	-	NC_000005.10:g.37245715C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser71Cys	rs1258112096	missense variant	-	NC_000005.10:g.37245716T>A	TOPMed
CPLANE1	Q9H799	p.Asn72Thr	rs1482203832	missense variant	-	NC_000005.10:g.37245712T>G	gnomAD
CPLANE1	Q9H799	p.Asp73Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37245710C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ala74Val	RCV000178339	missense variant	-	NC_000005.10:g.37245595G>A	ClinVar
CPLANE1	Q9H799	p.Ala74Val	rs139496915	missense variant	-	NC_000005.10:g.37245595G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala74Ser	rs1239469326	missense variant	-	NC_000005.10:g.37245596C>A	gnomAD
CPLANE1	Q9H799	p.Ala74Gly	rs139496915	missense variant	-	NC_000005.10:g.37245595G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala77Ser	rs1441701659	missense variant	-	NC_000005.10:g.37245587C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly78Val	rs1554117507	missense variant	-	NC_000005.10:g.37245583C>A	-
CPLANE1	Q9H799	p.Gly78Val	RCV000646704	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37245583C>A	ClinVar
CPLANE1	Q9H799	p.Val79Gly	rs1253829684	missense variant	-	NC_000005.10:g.37245580A>C	gnomAD
CPLANE1	Q9H799	p.Thr81Asn	rs1235427864	missense variant	-	NC_000005.10:g.37245574G>T	TOPMed
CPLANE1	Q9H799	p.Thr82Pro	rs1050105014	missense variant	-	NC_000005.10:g.37245572T>G	TOPMed
CPLANE1	Q9H799	p.Thr82Ile	rs1266897653	missense variant	-	NC_000005.10:g.37245571G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly83Ter	rs1554117456	stop gained	-	NC_000005.10:g.37245569C>A	-
CPLANE1	Q9H799	p.Gly83Ter	RCV000622958	nonsense	Inborn genetic diseases	NC_000005.10:g.37245569C>A	ClinVar
CPLANE1	Q9H799	p.Glu84Ter	rs1226086505	stop gained	-	NC_000005.10:g.37245566C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu84Gly	rs1486702562	missense variant	-	NC_000005.10:g.37245565T>C	TOPMed
CPLANE1	Q9H799	p.Glu84Lys	rs1226086505	missense variant	-	NC_000005.10:g.37245566C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys90Glu	rs1184582202	missense variant	-	NC_000005.10:g.37245548T>C	TOPMed
CPLANE1	Q9H799	p.Asp91Asn	rs973795274	missense variant	-	NC_000005.10:g.37245545C>T	-
CPLANE1	Q9H799	p.Asp93Gly	rs1358002555	missense variant	-	NC_000005.10:g.37245538T>C	gnomAD
CPLANE1	Q9H799	p.Pro99Ser	rs772399906	missense variant	-	NC_000005.10:g.37245521G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu102Lys	rs1332623224	missense variant	-	NC_000005.10:g.37245512C>T	gnomAD
CPLANE1	Q9H799	p.Lys105Asn	rs1433411087	missense variant	-	NC_000005.10:g.37245501C>G	TOPMed
CPLANE1	Q9H799	p.Lys109Arg	rs1437839710	missense variant	-	NC_000005.10:g.37245490T>C	gnomAD
CPLANE1	Q9H799	p.Thr111Ala	rs373849750	missense variant	-	NC_000005.10:g.37245485T>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Val112Phe	rs1319932651	missense variant	-	NC_000005.10:g.37245482C>A	gnomAD
CPLANE1	Q9H799	p.Ala113Thr	rs1023404450	missense variant	-	NC_000005.10:g.37245479C>T	gnomAD
CPLANE1	Q9H799	p.Ala113Val	rs534807606	missense variant	-	NC_000005.10:g.37244607G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala113Glu	rs534807606	missense variant	-	NC_000005.10:g.37244607G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu116Met	rs1351635401	missense variant	-	NC_000005.10:g.37244599A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg117Thr	rs1324311439	missense variant	-	NC_000005.10:g.37244595C>G	gnomAD
CPLANE1	Q9H799	p.Tyr121His	RCV000347506	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37244584A>G	ClinVar
CPLANE1	Q9H799	p.Tyr121His	rs886060587	missense variant	-	NC_000005.10:g.37244584A>G	-
CPLANE1	Q9H799	p.Val122Ile	rs1404949478	missense variant	-	NC_000005.10:g.37244581C>T	gnomAD
CPLANE1	Q9H799	p.Val122Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37244580A>G	NCI-TCGA
CPLANE1	Q9H799	p.Ser123Tyr	rs957027661	missense variant	-	NC_000005.10:g.37244577G>T	TOPMed
CPLANE1	Q9H799	p.Asn125Ser	rs766935499	missense variant	-	NC_000005.10:g.37244571T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys127Arg	rs1450489314	missense variant	-	NC_000005.10:g.37244565T>C	TOPMed
CPLANE1	Q9H799	p.Arg128Ile	COSM1067818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37244562C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg128Gly	rs1204623947	missense variant	-	NC_000005.10:g.37244563T>C	TOPMed
CPLANE1	Q9H799	p.Leu131Phe	rs780883640	missense variant	-	NC_000005.10:g.37244554G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile132Val	rs1455402164	missense variant	-	NC_000005.10:g.37244551T>C	gnomAD
CPLANE1	Q9H799	p.Pro134Thr	rs1478974970	missense variant	-	NC_000005.10:g.37244545G>T	gnomAD
CPLANE1	Q9H799	p.Pro134Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37244545G>A	NCI-TCGA
CPLANE1	Q9H799	p.Ile138Val	rs1345935478	missense variant	-	NC_000005.10:g.37244533T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu140Ile	rs1246732410	missense variant	-	NC_000005.10:g.37244527G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu142Lys	RCV000500106	missense variant	-	NC_000005.10:g.37244521C>T	ClinVar
CPLANE1	Q9H799	p.Glu142Lys	rs756856188	missense variant	-	NC_000005.10:g.37244521C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr143Cys	rs1410543833	missense variant	-	NC_000005.10:g.37244517T>C	TOPMed
CPLANE1	Q9H799	p.Lys147Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37244504C>A	NCI-TCGA
CPLANE1	Q9H799	p.Asn148Thr	rs549015748	missense variant	-	NC_000005.10:g.37244502T>G	1000Genomes,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn148Ser	rs549015748	missense variant	-	NC_000005.10:g.37244502T>C	1000Genomes,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser151Phe	rs1343395272	missense variant	-	NC_000005.10:g.37244493G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys153Glu	rs1213278664	missense variant	-	NC_000005.10:g.37244488T>C	gnomAD
CPLANE1	Q9H799	p.Ala158Val	rs751087543	missense variant	-	NC_000005.10:g.37244472G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg160Trp	rs754258488	missense variant	-	NC_000005.10:g.37244467G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg160Gln	rs766961442	missense variant	-	NC_000005.10:g.37244466C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp161Gly	rs761168338	missense variant	-	NC_000005.10:g.37244464A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser162Phe	rs767914507	missense variant	-	NC_000005.10:g.37244460G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser162Ala	rs750802255	missense variant	-	NC_000005.10:g.37244461A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Val164Gly	rs761870769	missense variant	-	NC_000005.10:g.37244454A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile165Thr	rs968241708	missense variant	-	NC_000005.10:g.37244451A>G	TOPMed
CPLANE1	Q9H799	p.Ile165Arg	rs968241708	missense variant	-	NC_000005.10:g.37244451A>C	TOPMed
CPLANE1	Q9H799	p.Ala169Thr	rs1190098989	missense variant	-	NC_000005.10:g.37244440C>T	gnomAD
CPLANE1	Q9H799	p.Val170Phe	rs1015190087	missense variant	-	NC_000005.10:g.37244437C>A	TOPMed
CPLANE1	Q9H799	p.Val170Ala	rs1462893252	missense variant	-	NC_000005.10:g.37244436A>G	TOPMed
CPLANE1	Q9H799	p.Leu171Ter	RCV000201603	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37244436dup	ClinVar
CPLANE1	Q9H799	p.Leu171Ile	rs1004617814	missense variant	-	NC_000005.10:g.37244434G>T	TOPMed
CPLANE1	Q9H799	p.Leu171Ter	RCV000201554	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37244436del	ClinVar
CPLANE1	Q9H799	p.Leu172Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37244429C>A	NCI-TCGA
CPLANE1	Q9H799	p.Pro173Arg	rs1253513881	missense variant	-	NC_000005.10:g.37244427G>C	gnomAD
CPLANE1	Q9H799	p.Ser174Cys	rs1475901814	missense variant	-	NC_000005.10:g.37244424G>C	TOPMed
CPLANE1	Q9H799	p.Thr175Ala	rs886060586	missense variant	-	NC_000005.10:g.37244422T>C	TOPMed
CPLANE1	Q9H799	p.Thr175Ala	RCV000408408	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37244422T>C	ClinVar
CPLANE1	Q9H799	p.Glu176Lys	rs964246930	missense variant	-	NC_000005.10:g.37244419C>T	gnomAD
CPLANE1	Q9H799	p.Ala180Thr	rs1202917441	missense variant	-	NC_000005.10:g.37244407C>T	gnomAD
CPLANE1	Q9H799	p.Ala180Asp	rs1314437814	missense variant	-	NC_000005.10:g.37244406G>T	gnomAD
CPLANE1	Q9H799	p.Val182Ala	COSM3828038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37244400A>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Phe186Leu	rs1280024486	missense variant	-	NC_000005.10:g.37244389A>G	gnomAD
CPLANE1	Q9H799	p.Asn189Lys	rs1334523885	missense variant	-	NC_000005.10:g.37244378A>C	TOPMed
CPLANE1	Q9H799	p.Asn189Ser	rs1018501655	missense variant	-	NC_000005.10:g.37244379T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu197Pro	rs1263716375	missense variant	-	NC_000005.10:g.37243100A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr203Cys	RCV000338303	missense variant	-	NC_000005.10:g.37243082T>C	ClinVar
CPLANE1	Q9H799	p.Tyr203Cys	rs144969169	missense variant	-	NC_000005.10:g.37243082T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly205Val	rs1270049075	missense variant	-	NC_000005.10:g.37243076C>A	gnomAD
CPLANE1	Q9H799	p.Gly205Arg	rs924258961	missense variant	-	NC_000005.10:g.37243077C>T	TOPMed
CPLANE1	Q9H799	p.Glu206Asp	rs978431624	missense variant	-	NC_000005.10:g.37243072T>G	TOPMed
CPLANE1	Q9H799	p.Lys209Arg	RCV000350861	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37243064T>C	ClinVar
CPLANE1	Q9H799	p.Lys209Arg	rs770630520	missense variant	-	NC_000005.10:g.37243064T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys209Arg	RCV000819192	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37243064T>C	ClinVar
CPLANE1	Q9H799	p.Leu210Ter	rs1401666590	stop gained	-	NC_000005.10:g.37243061A>T	TOPMed
CPLANE1	Q9H799	p.Leu210Val	rs372873088	missense variant	-	NC_000005.10:g.37243062A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe212Cys	rs1467507075	missense variant	-	NC_000005.10:g.37243055A>C	TOPMed
CPLANE1	Q9H799	p.Ile215Phe	rs1305198780	missense variant	-	NC_000005.10:g.37243047T>A	gnomAD
CPLANE1	Q9H799	p.Arg216Gln	rs1379533613	missense variant	-	NC_000005.10:g.37243043C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg216Trp	rs543556323	missense variant	-	NC_000005.10:g.37243044G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp217Ter	rs752753204	stop gained	-	NC_000005.10:g.37243039C>T	gnomAD
CPLANE1	Q9H799	p.His218Tyr	rs1450311906	missense variant	-	NC_000005.10:g.37243038G>A	gnomAD
CPLANE1	Q9H799	p.His218Arg	rs974974781	missense variant	-	NC_000005.10:g.37243037T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu219Asp	rs777375643	missense variant	-	NC_000005.10:g.37243033C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val221Ala	RCV000296197	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37243028A>G	ClinVar
CPLANE1	Q9H799	p.Val221Ile	rs1362686289	missense variant	-	NC_000005.10:g.37243029C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val221Ala	rs370118778	missense variant	-	NC_000005.10:g.37243028A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe222Ile	rs1011229827	missense variant	-	NC_000005.10:g.37243026A>T	gnomAD
CPLANE1	Q9H799	p.Phe222Leu	rs1011229827	missense variant	-	NC_000005.10:g.37243026A>G	gnomAD
CPLANE1	Q9H799	p.Ser227Ter	rs1367255493	stop gained	-	NC_000005.10:g.37239867G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro229Thr	rs750818403	missense variant	-	NC_000005.10:g.37239862G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr230Phe	rs913551616	missense variant	-	NC_000005.10:g.37239858T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.His231Arg	rs767930925	missense variant	-	NC_000005.10:g.37239855T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His233Gln	rs762115051	missense variant	-	NC_000005.10:g.37239848A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His233Arg	rs1258296079	missense variant	-	NC_000005.10:g.37239849T>C	TOPMed
CPLANE1	Q9H799	p.Trp234Ter	RCV000578989	nonsense	-	NC_000005.10:g.37239845C>T	ClinVar
CPLANE1	Q9H799	p.Trp234Ter	rs1554114025	stop gained	-	NC_000005.10:g.37239845C>T	-
CPLANE1	Q9H799	p.Ala235Ser	rs367627463	missense variant	-	NC_000005.10:g.37239844C>A	TOPMed
CPLANE1	Q9H799	p.Ala235Thr	rs367627463	missense variant	-	NC_000005.10:g.37239844C>T	TOPMed
CPLANE1	Q9H799	p.Gln237Ter	rs957588958	stop gained	-	NC_000005.10:g.37239838G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.His240Tyr	rs778771073	missense variant	-	NC_000005.10:g.37239829G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu241Phe	rs1389563176	missense variant	-	NC_000005.10:g.37239826G>A	TOPMed
CPLANE1	Q9H799	p.Cys242Tyr	rs1423193740	missense variant	-	NC_000005.10:g.37239822C>T	gnomAD
CPLANE1	Q9H799	p.Ser243Arg	rs1392560173	missense variant	-	NC_000005.10:g.37239818A>T	gnomAD
CPLANE1	Q9H799	p.Cys248Arg	rs1454775313	missense variant	-	NC_000005.10:g.37239805A>G	TOPMed
CPLANE1	Q9H799	p.Glu249Gln	rs757197770	missense variant	-	NC_000005.10:g.37239802C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu249Ala	rs1428450883	missense variant	-	NC_000005.10:g.37239801T>G	gnomAD
CPLANE1	Q9H799	p.Ser253Leu	rs370977871	missense variant	-	NC_000005.10:g.37239789G>A	1000Genomes,ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly255Ter	rs1193035258	stop gained	-	NC_000005.10:g.37239784C>A	gnomAD
CPLANE1	Q9H799	p.Leu266Ile	rs1275106600	missense variant	-	NC_000005.10:g.37239751G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr271Ala	rs1227513348	missense variant	-	NC_000005.10:g.37239736T>C	gnomAD
CPLANE1	Q9H799	p.Asn273His	RCV000201759	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37239730T>G	ClinVar
CPLANE1	Q9H799	p.Asn273His	rs863225167	missense variant	-	NC_000005.10:g.37239730T>G	-
CPLANE1	Q9H799	p.Asn273Thr	rs1324649536	missense variant	-	NC_000005.10:g.37239729T>G	gnomAD
CPLANE1	Q9H799	p.Pro277His	rs1302725073	missense variant	-	NC_000005.10:g.37239717G>T	gnomAD
CPLANE1	Q9H799	p.Lys278Arg	RCV000785933	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37239714T>C	ClinVar
CPLANE1	Q9H799	p.Lys278Arg	rs566588740	missense variant	-	NC_000005.10:g.37239714T>C	1000Genomes,TOPMed
CPLANE1	Q9H799	p.Val282Ile	rs1009393649	missense variant	-	NC_000005.10:g.37238951C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val282Leu	rs1009393649	missense variant	-	NC_000005.10:g.37238951C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val291Ala	rs369448121	missense variant	-	NC_000005.10:g.37238923A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser296Arg	rs1440857530	missense variant	-	NC_000005.10:g.37238907G>C	TOPMed
CPLANE1	Q9H799	p.Gly299Ter	RCV000723144	nonsense	-	NC_000005.10:g.37238900C>A	ClinVar
CPLANE1	Q9H799	p.Lys303Asn	COSM1067815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37238886C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Lys303Ter	RCV000690353	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37238887_37238888del	ClinVar
CPLANE1	Q9H799	p.Pro305Ser	rs1248663983	missense variant	-	NC_000005.10:g.37238882G>A	TOPMed
CPLANE1	Q9H799	p.Val306Met	rs776434510	missense variant	-	NC_000005.10:g.37238879C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val306Met	RCV000556883	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37238879C>T	ClinVar
CPLANE1	Q9H799	p.Thr310Ile	rs377351238	missense variant	-	NC_000005.10:g.37238866G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile312Thr	rs763561354	missense variant	-	NC_000005.10:g.37238860A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile312Phe	rs1461276591	missense variant	-	NC_000005.10:g.37238861T>A	TOPMed
CPLANE1	Q9H799	p.Arg313Lys	rs777338237	missense variant	-	NC_000005.10:g.37238857C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr315Cys	rs1200903066	missense variant	-	NC_000005.10:g.37231044T>C	gnomAD
CPLANE1	Q9H799	p.Val317Leu	rs1367504777	missense variant	-	NC_000005.10:g.37231039C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp319His	rs1367576769	missense variant	-	NC_000005.10:g.37231033C>G	TOPMed
CPLANE1	Q9H799	p.Ile320Thr	rs886060584	missense variant	-	NC_000005.10:g.37231029A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile320Thr	RCV000280877	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37231029A>G	ClinVar
CPLANE1	Q9H799	p.Trp322Gly	VAR_076776	Missense	-	-	UniProt
CPLANE1	Q9H799	p.Thr323Met	rs373704405	missense variant	-	NC_000005.10:g.37231020G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr323Met	RCV000180684	missense variant	-	NC_000005.10:g.37231020G>A	ClinVar
CPLANE1	Q9H799	p.Ser326Asn	rs1229752578	missense variant	-	NC_000005.10:g.37231011C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe328Leu	rs1329411806	missense variant	-	NC_000005.10:g.37231006A>G	gnomAD
CPLANE1	Q9H799	p.Met332Val	RCV000612655	missense variant	-	NC_000005.10:g.37230994T>C	ClinVar
CPLANE1	Q9H799	p.Met332Val	rs369404481	missense variant	-	NC_000005.10:g.37230994T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met332Thr	rs1385320835	missense variant	-	NC_000005.10:g.37230993A>G	gnomAD
CPLANE1	Q9H799	p.Arg335Cys	rs1315296922	missense variant	-	NC_000005.10:g.37230985G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg335His	rs570985560	missense variant	-	NC_000005.10:g.37230984C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu338Val	rs1004787837	missense variant	-	NC_000005.10:g.37230976G>C	TOPMed
CPLANE1	Q9H799	p.Val339Ile	rs527836330	missense variant	-	NC_000005.10:g.37230973C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu341Phe	rs1252357096	missense variant	-	NC_000005.10:g.37230965C>G	gnomAD
CPLANE1	Q9H799	p.Leu341Trp	rs1458937434	missense variant	-	NC_000005.10:g.37230966A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr342Asn	rs1433221579	missense variant	-	NC_000005.10:g.37230963G>T	TOPMed
CPLANE1	Q9H799	p.Gly345Ala	rs1158143763	missense variant	-	NC_000005.10:g.37230954C>G	gnomAD
CPLANE1	Q9H799	p.Glu346Ter	rs1469773488	stop gained	-	NC_000005.10:g.37230952C>A	TOPMed
CPLANE1	Q9H799	p.Leu347Trp	rs1468807312	missense variant	-	NC_000005.10:g.37230948A>C	gnomAD
CPLANE1	Q9H799	p.Thr352Ala	rs1188032768	missense variant	-	NC_000005.10:g.37230934T>C	gnomAD
CPLANE1	Q9H799	p.Thr352Lys	rs1443893630	missense variant	-	NC_000005.10:g.37230933G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr352Ile	rs1443893630	missense variant	-	NC_000005.10:g.37230933G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr352Lys	RCV000523196	missense variant	-	NC_000005.10:g.37230933G>T	ClinVar
CPLANE1	Q9H799	p.Cys355Tyr	rs1210054410	missense variant	-	NC_000005.10:g.37230924C>T	gnomAD
CPLANE1	Q9H799	p.Ser356Ala	rs150818442	missense variant	-	NC_000005.10:g.37230922A>C	1000Genomes,ExAC
CPLANE1	Q9H799	p.Ile357Val	rs548640009	missense variant	-	NC_000005.10:g.37230919T>C	1000Genomes,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu358Gln	rs1320099373	missense variant	-	NC_000005.10:g.37230916C>G	TOPMed
CPLANE1	Q9H799	p.Pro361Ser	rs758553385	missense variant	-	NC_000005.10:g.37230907G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu363Ter	COSM1067814	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37230901C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro366Ser	rs376489487	missense variant	-	NC_000005.10:g.37230892G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro366Leu	rs1388570960	missense variant	-	NC_000005.10:g.37230891G>A	TOPMed
CPLANE1	Q9H799	p.Leu367Phe	rs765252155	missense variant	-	NC_000005.10:g.37230889G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His368Arg	rs1286291749	missense variant	-	NC_000005.10:g.37230885T>C	gnomAD
CPLANE1	Q9H799	p.Pro369Ser	rs1247233752	missense variant	-	NC_000005.10:g.37230883G>A	gnomAD
CPLANE1	Q9H799	p.Thr372Met	rs1046843624	missense variant	-	NC_000005.10:g.37230873G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr372Pro	rs1382677016	missense variant	-	NC_000005.10:g.37230874T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro375Ser	RCV000322008	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37227816G>A	ClinVar
CPLANE1	Q9H799	p.Pro375Ser	rs774016809	missense variant	-	NC_000005.10:g.37227816G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr379Met	rs373606997	missense variant	-	NC_000005.10:g.37227803G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp382Tyr	rs1263126278	missense variant	-	NC_000005.10:g.37227795C>A	TOPMed
CPLANE1	Q9H799	p.Val387Ile	rs1333047025	missense variant	-	NC_000005.10:g.37227780C>T	gnomAD
CPLANE1	Q9H799	p.Ser389Leu	rs1324374545	missense variant	-	NC_000005.10:g.37227773G>A	gnomAD
CPLANE1	Q9H799	p.Ser390Thr	rs1404589147	missense variant	-	NC_000005.10:g.37227771A>T	gnomAD
CPLANE1	Q9H799	p.Asp393Gly	rs757781635	missense variant	-	NC_000005.10:g.37227761T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser394Asn	rs980810902	missense variant	-	NC_000005.10:g.37227758C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.del394TerIleLysTerUnk	rs1418777164	stop gained	-	NC_000005.10:g.37227759_37227760insTCTACTTGATTCA	gnomAD
CPLANE1	Q9H799	p.Asp395Glu	rs1265528395	missense variant	-	NC_000005.10:g.37227754G>C	TOPMed
CPLANE1	Q9H799	p.Met397Val	rs1008133189	missense variant	-	NC_000005.10:g.37227750T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met397Ile	rs573982253	missense variant	-	NC_000005.10:g.37227748C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met397Leu	rs1008133189	missense variant	-	NC_000005.10:g.37227750T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg398Lys	rs1198168579	missense variant	-	NC_000005.10:g.37227746C>T	gnomAD
CPLANE1	Q9H799	p.Gln399His	rs182286156	missense variant	-	NC_000005.10:g.37227742C>G	1000Genomes
CPLANE1	Q9H799	p.Gln399Ter	rs1489730749	stop gained	-	NC_000005.10:g.37227744G>A	gnomAD
CPLANE1	Q9H799	p.Gln399Arg	rs890574549	missense variant	-	NC_000005.10:g.37227743T>C	TOPMed
CPLANE1	Q9H799	p.Ile403Thr	rs1359869560	missense variant	-	NC_000005.10:g.37227731A>G	TOPMed
CPLANE1	Q9H799	p.Arg408Trp	rs189796608	missense variant	-	NC_000005.10:g.37227717G>A	NCI-TCGA
CPLANE1	Q9H799	p.Arg408Gln	rs929327971	missense variant	-	NC_000005.10:g.37227716C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg408Trp	rs189796608	missense variant	-	NC_000005.10:g.37227717G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg408Leu	rs929327971	missense variant	-	NC_000005.10:g.37227716C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro410Ser	rs868424448	missense variant	-	NC_000005.10:g.37227711G>A	gnomAD
CPLANE1	Q9H799	p.Tyr411His	rs1347149040	missense variant	-	NC_000005.10:g.37227708A>G	gnomAD
CPLANE1	Q9H799	p.Leu412Arg	rs1295132257	missense variant	-	NC_000005.10:g.37227704A>C	TOPMed
CPLANE1	Q9H799	p.Val413Ile	rs758642292	missense variant	-	NC_000005.10:g.37227702C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp416His	COSM3715201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37227693C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Thr421Ile	rs752878745	missense variant	-	NC_000005.10:g.37227677G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg424Ter	RCV000438829	nonsense	-	NC_000005.10:g.37227669G>A	ClinVar
CPLANE1	Q9H799	p.Arg424Ter	RCV000694430	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37227669G>A	ClinVar
CPLANE1	Q9H799	p.Arg424Gln	rs369204500	missense variant	-	NC_000005.10:g.37227668C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg424Ter	rs755097302	stop gained	-	NC_000005.10:g.37227669G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu426Pro	rs569749694	missense variant	-	NC_000005.10:g.37227662A>G	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Asp427Glu	RCV000513673	missense variant	-	NC_000005.10:g.37227658A>T	ClinVar
CPLANE1	Q9H799	p.Asp427Glu	rs1416115425	missense variant	-	NC_000005.10:g.37227658A>T	gnomAD
CPLANE1	Q9H799	p.Ser428Arg	rs1425197384	missense variant	-	NC_000005.10:g.37227655G>C	gnomAD
CPLANE1	Q9H799	p.Ser430Thr	rs539526918	missense variant	-	NC_000005.10:g.37227651A>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser430Pro	rs539526918	missense variant	-	NC_000005.10:g.37227651A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met435Leu	rs1184764389	missense variant	-	NC_000005.10:g.37227636T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met435Val	rs1184764389	missense variant	-	NC_000005.10:g.37227636T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg436Ser	rs1481127855	missense variant	-	NC_000005.10:g.37227631T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu438Arg	rs1444670357	missense variant	-	NC_000005.10:g.37227626A>C	gnomAD
CPLANE1	Q9H799	p.Leu438Phe	rs774184345	missense variant	-	NC_000005.10:g.37227627G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu440Pro	rs1203167510	missense variant	-	NC_000005.10:g.37227620A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu440Phe	rs1263799600	missense variant	-	NC_000005.10:g.37227621G>A	gnomAD
CPLANE1	Q9H799	p.Gln444Glu	rs1347857852	missense variant	-	NC_000005.10:g.37227609G>C	TOPMed
CPLANE1	Q9H799	p.Gln444Ter	rs1347857852	stop gained	-	NC_000005.10:g.37227609G>A	TOPMed
CPLANE1	Q9H799	p.Arg445Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37227606T>C	NCI-TCGA
CPLANE1	Q9H799	p.Glu447Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37227598C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ile449Val	rs938499127	missense variant	-	NC_000005.10:g.37227594T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr450Asp	rs1204605921	missense variant	-	NC_000005.10:g.37227591A>C	gnomAD
CPLANE1	Q9H799	p.Val453Met	rs768413158	missense variant	-	NC_000005.10:g.37227582C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile454Leu	rs1032256723	missense variant	-	NC_000005.10:g.37227579T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu455Ser	rs1335463376	missense variant	-	NC_000005.10:g.37227575A>G	gnomAD
CPLANE1	Q9H799	p.Lys461Glu	rs1452570073	missense variant	-	NC_000005.10:g.37227383T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly462Glu	rs1343122552	missense variant	-	NC_000005.10:g.37227379C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu463Pro	rs1157357610	missense variant	-	NC_000005.10:g.37227376A>G	gnomAD
CPLANE1	Q9H799	p.Arg466Gln	rs868467543	missense variant	-	NC_000005.10:g.37227367C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg466Ter	rs201292596	stop gained	-	NC_000005.10:g.37227368G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg466Gly	rs201292596	missense variant	-	NC_000005.10:g.37227368G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu471Val	rs139940282	missense variant	-	NC_000005.10:g.37227353G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu471Val	RCV000646719	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37227353G>C	ClinVar
CPLANE1	Q9H799	p.Arg472Trp	rs368258488	missense variant	-	NC_000005.10:g.37227350T>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg472Lys	rs1187221964	missense variant	-	NC_000005.10:g.37227349C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser473Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37227347A>T	NCI-TCGA
CPLANE1	Q9H799	p.Ser474Thr	rs780122881	missense variant	-	NC_000005.10:g.37227343C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu477Lys	rs1240635623	missense variant	-	NC_000005.10:g.37227335C>T	gnomAD
CPLANE1	Q9H799	p.His478Arg	rs756024139	missense variant	-	NC_000005.10:g.37227331T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln479Lys	rs1359820021	missense variant	-	NC_000005.10:g.37227329G>T	gnomAD
CPLANE1	Q9H799	p.Glu482Val	rs1290792126	missense variant	-	NC_000005.10:g.37227319T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser483Ile	rs750330611	missense variant	-	NC_000005.10:g.37227316C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp486Asn	RCV000724006	missense variant	-	NC_000005.10:g.37227308C>T	ClinVar
CPLANE1	Q9H799	p.Asp486Asn	rs374411782	missense variant	-	NC_000005.10:g.37227308C>T	1000Genomes,ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp486Asn	RCV000325656	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37227308C>T	ClinVar
CPLANE1	Q9H799	p.Val489Phe	RCV000420402	missense variant	-	NC_000005.10:g.37227299C>A	ClinVar
CPLANE1	Q9H799	p.Val489Ile	rs372187548	missense variant	-	NC_000005.10:g.37227299C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val489Phe	rs372187548	missense variant	-	NC_000005.10:g.37227299C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro490Ala	rs1401068752	missense variant	-	NC_000005.10:g.37227296G>C	TOPMed
CPLANE1	Q9H799	p.Pro490Leu	rs979311838	missense variant	-	NC_000005.10:g.37227295G>A	gnomAD
CPLANE1	Q9H799	p.Lys491Arg	rs761746624	missense variant	-	NC_000005.10:g.37227292T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys491Ile	rs761746624	missense variant	-	NC_000005.10:g.37227292T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu496Gly	rs938547995	missense variant	-	NC_000005.10:g.37227277T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr498Ile	rs751399336	missense variant	-	NC_000005.10:g.37227271G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile499Arg	rs928430723	missense variant	-	NC_000005.10:g.37227268A>C	TOPMed
CPLANE1	Q9H799	p.Ile499Val	rs1028627119	missense variant	-	NC_000005.10:g.37227269T>C	gnomAD
CPLANE1	Q9H799	p.Asn502Ser	rs1275634659	missense variant	-	NC_000005.10:g.37227259T>C	TOPMed
CPLANE1	Q9H799	p.Ala503Thr	rs1064796585	missense variant	-	NC_000005.10:g.37227257C>T	-
CPLANE1	Q9H799	p.Ala503Gly	rs1347489421	missense variant	-	NC_000005.10:g.37227256G>C	TOPMed
CPLANE1	Q9H799	p.Ala503Thr	RCV000481379	missense variant	-	NC_000005.10:g.37227257C>T	ClinVar
CPLANE1	Q9H799	p.Asn515Lys	rs773819961	missense variant	-	NC_000005.10:g.37227050G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu516Lys	rs772553650	missense variant	-	NC_000005.10:g.37227049C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg518Ser	rs886060583	missense variant	-	NC_000005.10:g.37227041T>A	gnomAD
CPLANE1	Q9H799	p.Arg518Ser	RCV000270620	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37227041T>A	ClinVar
CPLANE1	Q9H799	p.His519Arg	rs1461942415	missense variant	-	NC_000005.10:g.37227039T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys525Arg	rs1371369898	missense variant	-	NC_000005.10:g.37227022A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe527Val	rs1178730858	missense variant	-	NC_000005.10:g.37227016A>C	gnomAD
CPLANE1	Q9H799	p.Asp533Val	rs1428927651	missense variant	-	NC_000005.10:g.37226997T>A	gnomAD
CPLANE1	Q9H799	p.Cys536Phe	rs558101040	missense variant	-	NC_000005.10:g.37226988C>A	1000Genomes
CPLANE1	Q9H799	p.Ser538Cys	rs1403977547	missense variant	-	NC_000005.10:g.37226983T>A	TOPMed
CPLANE1	Q9H799	p.Ser538Asn	rs954907723	missense variant	-	NC_000005.10:g.37226982C>T	TOPMed
CPLANE1	Q9H799	p.Lys540Asn	rs1449072117	missense variant	-	NC_000005.10:g.37226975C>A	TOPMed
CPLANE1	Q9H799	p.Glu541Lys	rs1307104090	missense variant	-	NC_000005.10:g.37226974C>T	TOPMed
CPLANE1	Q9H799	p.Gly542Arg	rs1250993026	missense variant	-	NC_000005.10:g.37226971C>T	gnomAD
CPLANE1	Q9H799	p.Arg543Ile	rs1451330944	missense variant	-	NC_000005.10:g.37226967C>A	gnomAD
CPLANE1	Q9H799	p.Arg543Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37226967C>G	NCI-TCGA
CPLANE1	Q9H799	p.Met549Val	rs563502625	missense variant	-	NC_000005.10:g.37226950T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr552Met	rs77739540	missense variant	-	NC_000005.10:g.37226940G>A	1000Genomes,ExAC,TOPMed
CPLANE1	Q9H799	p.Thr552Met	RCV000520085	missense variant	-	NC_000005.10:g.37226940G>A	ClinVar
CPLANE1	Q9H799	p.His554Tyr	rs1229854824	missense variant	-	NC_000005.10:g.37226935G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala555Ser	rs1337841433	missense variant	-	NC_000005.10:g.37226932C>A	gnomAD
CPLANE1	Q9H799	p.Asp558Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37226923C>T	NCI-TCGA
CPLANE1	Q9H799	p.Asp563His	rs1418530039	missense variant	-	NC_000005.10:g.37226908C>G	gnomAD
CPLANE1	Q9H799	p.Arg564Gly	rs1470384523	missense variant	-	NC_000005.10:g.37226905T>C	gnomAD
CPLANE1	Q9H799	p.Arg564Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37226904C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ile566Val	rs756254995	missense variant	-	NC_000005.10:g.37226899T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr567Ile	rs1364117468	missense variant	-	NC_000005.10:g.37226895G>A	gnomAD
CPLANE1	Q9H799	p.Leu569Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37226890G>T	NCI-TCGA
CPLANE1	Q9H799	p.Lys574Asn	rs1188797300	missense variant	-	NC_000005.10:g.37226873T>A	TOPMed
CPLANE1	Q9H799	p.Leu576Ile	rs1370751672	missense variant	-	NC_000005.10:g.37226869G>T	TOPMed
CPLANE1	Q9H799	p.Ala579Val	rs191239995	missense variant	-	NC_000005.10:g.37226859G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala579Val	RCV000646713	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37226859G>A	ClinVar
CPLANE1	Q9H799	p.Ala579Val	RCV000625261	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226859G>A	ClinVar
CPLANE1	Q9H799	p.Trp580Ter	rs1460428825	stop gained	-	NC_000005.10:g.37226855C>T	gnomAD
CPLANE1	Q9H799	p.Ile582Val	rs1424803343	missense variant	-	NC_000005.10:g.37226851T>C	TOPMed
CPLANE1	Q9H799	p.Ile582Thr	rs1260722151	missense variant	-	NC_000005.10:g.37226850A>G	gnomAD
CPLANE1	Q9H799	p.Ile582Met	rs995624563	missense variant	-	NC_000005.10:g.37226849T>C	gnomAD
CPLANE1	Q9H799	p.Gly583Arg	rs1350997993	missense variant	-	NC_000005.10:g.37226848C>G	gnomAD
CPLANE1	Q9H799	p.Thr589Ala	rs1206198595	missense variant	-	NC_000005.10:g.37226830T>C	gnomAD
CPLANE1	Q9H799	p.Glu590Gly	rs751417720	missense variant	-	NC_000005.10:g.37226826T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn592Lys	rs1334510328	missense variant	-	NC_000005.10:g.37226819A>T	gnomAD
CPLANE1	Q9H799	p.Leu593Val	rs1272767433	missense variant	-	NC_000005.10:g.37226818A>C	gnomAD
CPLANE1	Q9H799	p.Leu595Ter	rs530569572	stop gained	-	NC_000005.10:g.37226811A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu595Ter	RCV000201692	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226811A>C	ClinVar
CPLANE1	Q9H799	p.Leu595Ter	RCV000523063	nonsense	-	NC_000005.10:g.37226811A>C	ClinVar
CPLANE1	Q9H799	p.Ile598Val	rs1382067645	missense variant	-	NC_000005.10:g.37226803T>C	gnomAD
CPLANE1	Q9H799	p.Cys601Ser	rs1402632313	missense variant	-	NC_000005.10:g.37226793C>G	gnomAD
CPLANE1	Q9H799	p.Ile602Phe	rs1386005132	missense variant	-	NC_000005.10:g.37226791T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile602Met	rs896455969	missense variant	-	NC_000005.10:g.37226789G>C	gnomAD
CPLANE1	Q9H799	p.His604Leu	rs200550378	missense variant	-	NC_000005.10:g.37226784T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe605Ile	rs570302899	missense variant	-	NC_000005.10:g.37226782A>T	1000Genomes
CPLANE1	Q9H799	p.Phe606Val	rs1164067387	missense variant	-	NC_000005.10:g.37226779A>C	gnomAD
CPLANE1	Q9H799	p.Tyr607LeuPheSerTerUnkUnk	COSM4613663	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37226775_37226776insA	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Tyr607ThrPheSerTerUnk	rs777686211;rs797044640	frameshift	-	NC_000005.10:g.37226776A>-	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Tyr607Ter	RCV000174405	frameshift	-	NC_000005.10:g.37226783dup	ClinVar
CPLANE1	Q9H799	p.Ile608Thr	rs1194762831	missense variant	-	NC_000005.10:g.37226772A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile608Val	rs752434954	missense variant	-	NC_000005.10:g.37226773T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile608Ser	rs1194762831	missense variant	-	NC_000005.10:g.37226772A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile608Phe	rs752434954	missense variant	-	NC_000005.10:g.37226773T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile608Met	rs1338159128	missense variant	-	NC_000005.10:g.37226771A>C	TOPMed
CPLANE1	Q9H799	p.Leu609Phe	rs1447204022	missense variant	-	NC_000005.10:g.37226770G>A	gnomAD
CPLANE1	Q9H799	p.Gln610Ter	rs1200574734	stop gained	-	NC_000005.10:g.37226767G>A	TOPMed
CPLANE1	Q9H799	p.Ile612Thr	rs551661336	missense variant	-	NC_000005.10:g.37226760A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys613Asn	rs533310477	missense variant	-	NC_000005.10:g.37226756T>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys613Asn	RCV000764606	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37226756T>G	ClinVar
CPLANE1	Q9H799	p.Lys613Asn	RCV000380958	missense variant	-	NC_000005.10:g.37226756T>G	ClinVar
CPLANE1	Q9H799	p.Cys614Tyr	rs1353659476	missense variant	-	NC_000005.10:g.37226754C>T	gnomAD
CPLANE1	Q9H799	p.Pro615Ser	rs1351894088	missense variant	-	NC_000005.10:g.37226752G>A	gnomAD
CPLANE1	Q9H799	p.Phe616Leu	rs1326644956	missense variant	-	NC_000005.10:g.37226749A>G	gnomAD
CPLANE1	Q9H799	p.Pro617Arg	rs1294435340	missense variant	-	NC_000005.10:g.37226745G>C	gnomAD
CPLANE1	Q9H799	p.Lys618Thr	rs892914879	missense variant	-	NC_000005.10:g.37226742T>G	TOPMed
CPLANE1	Q9H799	p.Leu621Ile	rs762248689	missense variant	-	NC_000005.10:g.37226734G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser626Ter	RCV000554109	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226718del	ClinVar
CPLANE1	Q9H799	p.Ser627Thr	rs1317816571	missense variant	-	NC_000005.10:g.37226716A>T	gnomAD
CPLANE1	Q9H799	p.Arg628Lys	RCV000145357	missense variant	-	NC_000005.10:g.37226712C>T	ClinVar
CPLANE1	Q9H799	p.Arg628Lys	rs74975451	missense variant	-	NC_000005.10:g.37226712C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn630Ser	rs1383468137	missense variant	-	NC_000005.10:g.37226706T>C	gnomAD
CPLANE1	Q9H799	p.Ala631Val	rs1303581119	missense variant	-	NC_000005.10:g.37226703G>A	gnomAD
CPLANE1	Q9H799	p.Trp632Cys	rs539789389	missense variant	-	NC_000005.10:g.37226699C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp632Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37226701A>G	NCI-TCGA
CPLANE1	Q9H799	p.Ile633Met	rs910843354	missense variant	-	NC_000005.10:g.37226696T>C	TOPMed
CPLANE1	Q9H799	p.Ile633Val	rs1462177997	missense variant	-	NC_000005.10:g.37226698T>C	gnomAD
CPLANE1	Q9H799	p.His641Pro	rs1401668840	missense variant	-	NC_000005.10:g.37226673T>G	TOPMed
CPLANE1	Q9H799	p.His647Arg	rs983530028	missense variant	-	NC_000005.10:g.37226655T>C	gnomAD
CPLANE1	Q9H799	p.His647Tyr	rs775827684	missense variant	-	NC_000005.10:g.37226656G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His647Pro	rs983530028	missense variant	-	NC_000005.10:g.37226655T>G	gnomAD
CPLANE1	Q9H799	p.Asp650His	COSM1567695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37226647C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg652Ile	rs1490748085	missense variant	-	NC_000005.10:g.37226640C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr653Cys	rs1342297170	missense variant	-	NC_000005.10:g.37226637T>C	TOPMed
CPLANE1	Q9H799	p.Lys654Gln	rs1271454737	missense variant	-	NC_000005.10:g.37226635T>G	gnomAD
CPLANE1	Q9H799	p.Gln655Pro	rs923514393	missense variant	-	NC_000005.10:g.37226631T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp656Val	rs1216833526	missense variant	-	NC_000005.10:g.37226628T>A	gnomAD
CPLANE1	Q9H799	p.Asp656Tyr	rs972236064	missense variant	-	NC_000005.10:g.37226629C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp656Asn	rs972236064	missense variant	-	NC_000005.10:g.37226629C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val657Met	rs529419886	missense variant	-	NC_000005.10:g.37226626C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly658Glu	rs745967875	missense variant	-	NC_000005.10:g.37226622C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly658Arg	rs1269693917	missense variant	-	NC_000005.10:g.37226623C>G	gnomAD
CPLANE1	Q9H799	p.His659Asn	rs1192029285	missense variant	-	NC_000005.10:g.37226620G>T	TOPMed
CPLANE1	Q9H799	p.Ile661Val	rs1016323553	missense variant	-	NC_000005.10:g.37226614T>C	TOPMed
CPLANE1	Q9H799	p.Lys662Thr	rs1347676803	missense variant	-	NC_000005.10:g.37226610T>G	gnomAD
CPLANE1	Q9H799	p.Asn666Asp	rs1404179003	missense variant	-	NC_000005.10:g.37226599T>C	gnomAD
CPLANE1	Q9H799	p.Asn666Ser	rs1201293004	missense variant	-	NC_000005.10:g.37226598T>C	TOPMed
CPLANE1	Q9H799	p.Thr667Ser	COSM4913843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37226596T>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Thr667Ala	rs1375962001	missense variant	-	NC_000005.10:g.37226596T>C	TOPMed
CPLANE1	Q9H799	p.Lys669Thr	rs1330748126	missense variant	-	NC_000005.10:g.37226589T>G	gnomAD
CPLANE1	Q9H799	p.Leu670Val	rs1410489854	missense variant	-	NC_000005.10:g.37226587G>C	gnomAD
CPLANE1	Q9H799	p.Leu672Pro	rs951749046	missense variant	-	NC_000005.10:g.37226580A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu672Arg	rs951749046	missense variant	-	NC_000005.10:g.37226580A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr673Ser	rs1172913663	missense variant	-	NC_000005.10:g.37226578T>A	TOPMed
CPLANE1	Q9H799	p.Gln676Ter	rs1361136933	stop gained	-	NC_000005.10:g.37226569G>A	TOPMed
CPLANE1	Q9H799	p.Gly678Arg	rs1027355854	missense variant	-	NC_000005.10:g.37226563C>G	TOPMed
CPLANE1	Q9H799	p.Gly678Asp	rs958743377	missense variant	-	NC_000005.10:g.37226562C>T	TOPMed
CPLANE1	Q9H799	p.Gln679Arg	rs1165694869	missense variant	-	NC_000005.10:g.37226559T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln679His	rs781366484	missense variant	-	NC_000005.10:g.37226558C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe681Leu	rs1429624123	missense variant	-	NC_000005.10:g.37226552G>T	gnomAD
CPLANE1	Q9H799	p.Glu683Gln	COSM4856918	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37226548C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu683Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37226547T>G	NCI-TCGA
CPLANE1	Q9H799	p.Phe689Leu	rs1034725789	missense variant	-	NC_000005.10:g.37226530A>G	TOPMed
CPLANE1	Q9H799	p.Tyr690His	rs561921574	missense variant	-	NC_000005.10:g.37226527A>G	1000Genomes
CPLANE1	Q9H799	p.Lys693Arg	rs181812684	missense variant	-	NC_000005.10:g.37226517T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys693Thr	rs181812684	missense variant	-	NC_000005.10:g.37226517T>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met694Val	rs1057519066	missense variant	-	NC_000005.10:g.37226515T>C	gnomAD
CPLANE1	Q9H799	p.Val695Ile	rs758264035	missense variant	-	NC_000005.10:g.37226512C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn700His	rs1260442830	missense variant	-	NC_000005.10:g.37226497T>G	TOPMed
CPLANE1	Q9H799	p.Gly701Val	rs1489030827	missense variant	-	NC_000005.10:g.37226493C>A	TOPMed
CPLANE1	Q9H799	p.Val702Leu	rs1272351781	missense variant	-	NC_000005.10:g.37226491C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr703Cys	rs907149172	missense variant	-	NC_000005.10:g.37226487T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile704Val	rs1223152661	missense variant	-	NC_000005.10:g.37226485T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln706His	rs1365168023	missense variant	-	NC_000005.10:g.37226477T>G	gnomAD
CPLANE1	Q9H799	p.Pro707Ser	rs1281104449	missense variant	-	NC_000005.10:g.37226476G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile710Val	rs1380828307	missense variant	-	NC_000005.10:g.37226467T>C	TOPMed
CPLANE1	Q9H799	p.Ser711Leu	RCV000729979	missense variant	-	NC_000005.10:g.37226463G>A	ClinVar
CPLANE1	Q9H799	p.Ser711Leu	rs116237993	missense variant	-	NC_000005.10:g.37226463G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser713Leu	RCV000417596	missense variant	-	NC_000005.10:g.37226457G>A	ClinVar
CPLANE1	Q9H799	p.Ser713Leu	rs765005739	missense variant	-	NC_000005.10:g.37226457G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly716Arg	rs1362957375	missense variant	-	NC_000005.10:g.37226449C>T	TOPMed
CPLANE1	Q9H799	p.Ala721Val	rs1470706207	missense variant	-	NC_000005.10:g.37226433G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu725Ser	rs1175193491	missense variant	-	NC_000005.10:g.37226421A>G	gnomAD
CPLANE1	Q9H799	p.Pro728Ala	rs1467926733	missense variant	-	NC_000005.10:g.37226413G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro728Ala	RCV000499755	missense variant	-	NC_000005.10:g.37226413G>C	ClinVar
CPLANE1	Q9H799	p.Ile729Val	RCV000646707	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37226410T>C	ClinVar
CPLANE1	Q9H799	p.Ile729Val	rs1010091096	missense variant	-	NC_000005.10:g.37226410T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe730Leu	rs558035506	missense variant	-	NC_000005.10:g.37226407A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met732Leu	rs1054212301	missense variant	-	NC_000005.10:g.37226401T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln734Leu	rs1232879896	missense variant	-	NC_000005.10:g.37226394T>A	gnomAD
CPLANE1	Q9H799	p.Gln734Glu	rs753359539	missense variant	-	NC_000005.10:g.37226395G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp735His	rs1322678335	missense variant	-	NC_000005.10:g.37226392C>G	TOPMed
CPLANE1	Q9H799	p.Ser736Asn	rs765826864	missense variant	-	NC_000005.10:g.37226388C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln739Glu	COSM3828037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37226380G>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Lys740Asn	rs896731706	missense variant	-	NC_000005.10:g.37226375T>A	TOPMed
CPLANE1	Q9H799	p.Trp742Ser	rs1424521215	missense variant	-	NC_000005.10:g.37226370C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser743Cys	rs1468250803	missense variant	-	NC_000005.10:g.37226367G>C	TOPMed
CPLANE1	Q9H799	p.Trp744Leu	rs1199522555	missense variant	-	NC_000005.10:g.37226364C>A	TOPMed
CPLANE1	Q9H799	p.Phe748Val	rs942403065	missense variant	-	NC_000005.10:g.37226353A>C	TOPMed
CPLANE1	Q9H799	p.His751Arg	rs889538605	missense variant	-	NC_000005.10:g.37226343T>C	TOPMed
CPLANE1	Q9H799	p.Pro752His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37226340G>T	NCI-TCGA
CPLANE1	Q9H799	p.Gln753Glu	rs1203230774	missense variant	-	NC_000005.10:g.37226338G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val754Leu	rs1310709857	missense variant	-	NC_000005.10:g.37226335C>G	gnomAD
CPLANE1	Q9H799	p.Val755Ile	rs1286064292	missense variant	-	NC_000005.10:g.37226332C>T	gnomAD
CPLANE1	Q9H799	p.Asn756Lys	rs546125732	missense variant	-	NC_000005.10:g.37226327A>T	1000Genomes,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln759Ter	RCV000201623	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226320G>A	ClinVar
CPLANE1	Q9H799	p.Gln759Ter	rs863225158	stop gained	-	NC_000005.10:g.37226320G>A	TOPMed
CPLANE1	Q9H799	p.Gln759Glu	rs863225158	missense variant	-	NC_000005.10:g.37226320G>C	TOPMed
CPLANE1	Q9H799	p.Gln760Lys	rs762334514	missense variant	-	NC_000005.10:g.37226317G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln760Ter	rs762334514	stop gained	-	NC_000005.10:g.37226317G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln760Glu	rs762334514	missense variant	-	NC_000005.10:g.37226317G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His763Asp	rs1306899067	missense variant	-	NC_000005.10:g.37226308G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile767Val	rs1267786198	missense variant	-	NC_000005.10:g.37224733T>C	TOPMed
CPLANE1	Q9H799	p.Leu768Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37224730G>T	NCI-TCGA
CPLANE1	Q9H799	p.Trp769Arg	rs1050253934	missense variant	-	NC_000005.10:g.37224727A>T	TOPMed
CPLANE1	Q9H799	p.Ile771Met	rs1216772002	missense variant	-	NC_000005.10:g.37224719T>C	gnomAD
CPLANE1	Q9H799	p.Leu772Arg	rs775652771	missense variant	-	NC_000005.10:g.37224717A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu772Pro	rs775652771	missense variant	-	NC_000005.10:g.37224717A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr773Cys	RCV000435777	missense variant	-	NC_000005.10:g.37224714T>C	ClinVar
CPLANE1	Q9H799	p.Tyr773Cys	rs1057521766	missense variant	-	NC_000005.10:g.37224714T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr773Ser	rs1057521766	missense variant	-	NC_000005.10:g.37224714T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys774Asn	rs770072253	missense variant	-	NC_000005.10:g.37224710T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys775Asn	rs1313704320	missense variant	-	NC_000005.10:g.37224707T>A	gnomAD
CPLANE1	Q9H799	p.Thr776LeuPheSerTerUnk	rs752464801	frameshift	-	NC_000005.10:g.37224706T>-	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Leu777Ser	rs1226186288	missense variant	-	NC_000005.10:g.37224702A>G	gnomAD
CPLANE1	Q9H799	p.Trp778Arg	rs1363462144	missense variant	-	NC_000005.10:g.37224700A>G	gnomAD
CPLANE1	Q9H799	p.Gln780Glu	COSM4853948	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37224694G>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln780Arg	rs1289028361	missense variant	-	NC_000005.10:g.37224693T>C	gnomAD
CPLANE1	Q9H799	p.Gln780Arg	RCV000658300	missense variant	-	NC_000005.10:g.37224693T>C	ClinVar
CPLANE1	Q9H799	p.Arg785Ter	RCV000201655	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37224679G>A	ClinVar
CPLANE1	Q9H799	p.Arg785Ter	RCV000362856	nonsense	-	NC_000005.10:g.37224679G>A	ClinVar
CPLANE1	Q9H799	p.Arg785Gln	rs535811932	missense variant	-	NC_000005.10:g.37224678C>T	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg785Ter	rs863225163	stop gained	-	NC_000005.10:g.37224679G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg785Ter	rs863225163	stop gained	-	NC_000005.10:g.37224679G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg785Gln	rs535811932	missense variant	-	NC_000005.10:g.37224678C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val787Ile	rs1296784985	missense variant	-	NC_000005.10:g.37224673C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro788Leu	rs1427088812	missense variant	-	NC_000005.10:g.37224669G>A	gnomAD
CPLANE1	Q9H799	p.Ser792Asn	rs1164163422	missense variant	-	NC_000005.10:g.37224657C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser792Cys	rs1386473177	missense variant	-	NC_000005.10:g.37224658T>A	gnomAD
CPLANE1	Q9H799	p.Ser792Asn	rs1164163422	missense variant	-	NC_000005.10:g.37224657C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln793Ter	rs776886962	stop gained	-	NC_000005.10:g.37224655G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln793Arg	rs1475335968	missense variant	-	NC_000005.10:g.37224654T>C	TOPMed
CPLANE1	Q9H799	p.Gln793Ter	RCV000201525	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37224655G>A	ClinVar
CPLANE1	Q9H799	p.Leu794Ser	rs1421753296	missense variant	-	NC_000005.10:g.37224651A>G	gnomAD
CPLANE1	Q9H799	p.Thr795Ala	rs1187278191	missense variant	-	NC_000005.10:g.37224649T>C	gnomAD
CPLANE1	Q9H799	p.Glu796Lys	COSM449612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37224646C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Lys797Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37224641C>A	NCI-TCGA
CPLANE1	Q9H799	p.Met798Lys	rs1485682690	missense variant	-	NC_000005.10:g.37224639A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.His800Asn	rs1260724286	missense variant	-	NC_000005.10:g.37224634G>T	gnomAD
CPLANE1	Q9H799	p.Ala802Val	rs771174918	missense variant	-	NC_000005.10:g.37224627G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val805Ile	rs1490492363	missense variant	-	NC_000005.10:g.37224619C>T	gnomAD
CPLANE1	Q9H799	p.Leu808Val	rs1290864107	missense variant	-	NC_000005.10:g.37224610G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu808Ter	RCV000527826	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37224609_37224610del	ClinVar
CPLANE1	Q9H799	p.Cys810Trp	rs1291473289	missense variant	-	NC_000005.10:g.37224602A>C	TOPMed
CPLANE1	Q9H799	p.Cys810Arg	rs886060581	missense variant	-	NC_000005.10:g.37224604A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys810Gly	rs886060581	missense variant	-	NC_000005.10:g.37224604A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys810Gly	RCV000334302	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37224604A>C	ClinVar
CPLANE1	Q9H799	p.His811Tyr	rs1213599040	missense variant	-	NC_000005.10:g.37224601G>A	gnomAD
CPLANE1	Q9H799	p.Ala814Asp	rs1243954217	missense variant	-	NC_000005.10:g.37224591G>T	TOPMed
CPLANE1	Q9H799	p.Leu816Ile	rs192335673	missense variant	-	NC_000005.10:g.37224586G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu816Val	rs192335673	missense variant	-	NC_000005.10:g.37224586G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp821Asn	rs1481482875	missense variant	-	NC_000005.10:g.37224571C>T	TOPMed
CPLANE1	Q9H799	p.Cys822Arg	rs1011292016	missense variant	-	NC_000005.10:g.37224568A>G	gnomAD
CPLANE1	Q9H799	p.Asn824Ser	rs796385626	missense variant	-	NC_000005.10:g.37224561T>C	TOPMed
CPLANE1	Q9H799	p.Glu828Ter	rs1456857277	stop gained	-	NC_000005.10:g.37224550C>A	gnomAD
CPLANE1	Q9H799	p.Ser831Phe	rs1356314101	missense variant	-	NC_000005.10:g.37224540G>A	gnomAD
CPLANE1	Q9H799	p.Ile832Val	rs1171272217	missense variant	-	NC_000005.10:g.37224538T>C	gnomAD
CPLANE1	Q9H799	p.Asn833Ser	rs980898617	missense variant	-	NC_000005.10:g.37224534T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly834Arg	rs1410964430	missense variant	-	NC_000005.10:g.37224532C>T	TOPMed
CPLANE1	Q9H799	p.Cys837Tyr	rs1264537897	missense variant	-	NC_000005.10:g.37224324C>T	gnomAD
CPLANE1	Q9H799	p.Ser842Ter	rs753449442	stop gained	-	NC_000005.10:g.37224309G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Val847Phe	rs1426431422	missense variant	-	NC_000005.10:g.37224295C>A	TOPMed
CPLANE1	Q9H799	p.Gln848His	rs199749415	missense variant	-	NC_000005.10:g.37224290C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp850Arg	rs1385563171	missense variant	-	NC_000005.10:g.37224286A>G	gnomAD
CPLANE1	Q9H799	p.Lys852Glu	rs755666811	missense variant	-	NC_000005.10:g.37224280T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala853Val	rs886060580	missense variant	-	NC_000005.10:g.37224276G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala853Gly	rs886060580	missense variant	-	NC_000005.10:g.37224276G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala853Ter	RCV000700941	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37224283dup	ClinVar
CPLANE1	Q9H799	p.Ala853Asp	rs886060580	missense variant	-	NC_000005.10:g.37224276G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala853SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37224277_37224278insT	NCI-TCGA
CPLANE1	Q9H799	p.Ala853Asp	RCV000279218	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37224276G>T	ClinVar
CPLANE1	Q9H799	p.Gln855Ter	rs1285358729	stop gained	-	NC_000005.10:g.37224271G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu856Lys	rs1465109201	missense variant	-	NC_000005.10:g.37224268C>T	gnomAD
CPLANE1	Q9H799	p.Glu856Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37224267T>C	NCI-TCGA
CPLANE1	Q9H799	p.Glu856Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37224268C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ile857Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37224264A>G	NCI-TCGA
CPLANE1	Q9H799	p.Glu858Lys	rs533506472	missense variant	-	NC_000005.10:g.37224262C>T	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu858Lys	rs533506472	missense variant	-	NC_000005.10:g.37224262C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu858Ter	rs533506472	stop gained	-	NC_000005.10:g.37224262C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg863Lys	rs1446725726	missense variant	-	NC_000005.10:g.37221482C>T	gnomAD
CPLANE1	Q9H799	p.Thr865Ser	rs577616180	missense variant	-	NC_000005.10:g.37221477T>A	1000Genomes,gnomAD
CPLANE1	Q9H799	p.Thr865Arg	rs868497791	missense variant	-	NC_000005.10:g.37221476G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr865Met	rs868497791	missense variant	-	NC_000005.10:g.37221476G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe867Val	rs1453632335	missense variant	-	NC_000005.10:g.37221471A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu868Phe	rs771266513	missense variant	-	NC_000005.10:g.37221468G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln869Ter	rs1170595339	stop gained	-	NC_000005.10:g.37221465G>A	gnomAD
CPLANE1	Q9H799	p.Ile870Met	rs1455094740	missense variant	-	NC_000005.10:g.37221460T>C	gnomAD
CPLANE1	Q9H799	p.Arg871Cys	RCV000201667	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37221459G>A	ClinVar
CPLANE1	Q9H799	p.Arg871His	rs1157919882	missense variant	-	NC_000005.10:g.37221458C>T	gnomAD
CPLANE1	Q9H799	p.Arg871Ser	rs760906097	missense variant	-	NC_000005.10:g.37221459G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg871Leu	rs1157919882	missense variant	-	NC_000005.10:g.37221458C>A	gnomAD
CPLANE1	Q9H799	p.Arg871Cys	rs760906097	missense variant	-	NC_000005.10:g.37221459G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser875Phe	rs794727154	missense variant	-	NC_000005.10:g.37221446G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser875Phe	RCV000611123	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37221446G>A	ClinVar
CPLANE1	Q9H799	p.Leu876Val	rs1437781015	missense variant	-	NC_000005.10:g.37221444G>C	gnomAD
CPLANE1	Q9H799	p.Leu877Phe	rs1244409222	missense variant	-	NC_000005.10:g.37221439T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu877Phe	rs1244409222	missense variant	-	NC_000005.10:g.37221439T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr878Asn	rs1183719989	missense variant	-	NC_000005.10:g.37221438A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr878His	rs1183719989	missense variant	-	NC_000005.10:g.37221438A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu881Pro	rs1441469685	missense variant	-	NC_000005.10:g.37221428A>G	gnomAD
CPLANE1	Q9H799	p.Leu881Phe	rs1291012945	missense variant	-	NC_000005.10:g.37221429G>A	TOPMed
CPLANE1	Q9H799	p.Tyr882Cys	rs1012462823	missense variant	-	NC_000005.10:g.37221425T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser883Gly	rs1176267069	missense variant	-	NC_000005.10:g.37221423T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp888Gly	rs1487026046	missense variant	-	NC_000005.10:g.37221407T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp888Val	rs1487026046	missense variant	-	NC_000005.10:g.37221407T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp888Glu	rs1287231108	missense variant	-	NC_000005.10:g.37221406A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly891Val	rs1024667283	missense variant	-	NC_000005.10:g.37221398C>A	TOPMed
CPLANE1	Q9H799	p.Cys893Ter	rs959606573	stop gained	-	NC_000005.10:g.37221391A>T	TOPMed
CPLANE1	Q9H799	p.Trp903Ter	RCV000201748	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37221361C>T	ClinVar
CPLANE1	Q9H799	p.Trp903Ter	rs863225164	stop gained	-	NC_000005.10:g.37221361C>T	TOPMed
CPLANE1	Q9H799	p.Gln905Glu	rs772059088	missense variant	-	NC_000005.10:g.37221357G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Val908Ile	rs1416725338	missense variant	-	NC_000005.10:g.37221348C>T	gnomAD
CPLANE1	Q9H799	p.Lys912Arg	rs184178061	missense variant	-	NC_000005.10:g.37221335T>C	1000Genomes,gnomAD
CPLANE1	Q9H799	p.HisPhe921GlnIle	rs1554100282	missense variant	-	NC_000005.10:g.37213715_37213716inv	-
CPLANE1	Q9H799	p.His921Gln	rs939816838	missense variant	-	NC_000005.10:g.37213716A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.His921GlnIle	RCV000498366	missense variant	-	NC_000005.10:g.37213715_37213716inv	ClinVar
CPLANE1	Q9H799	p.Phe922Ile	rs908372887	missense variant	-	NC_000005.10:g.37213715A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe922Leu	rs908372887	missense variant	-	NC_000005.10:g.37213715A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys924Ser	rs1294508181	missense variant	-	NC_000005.10:g.37213709A>T	gnomAD
CPLANE1	Q9H799	p.Cys924Phe	rs567136523	missense variant	-	NC_000005.10:g.37213708C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val927Met	rs1355665464	missense variant	-	NC_000005.10:g.37213700C>T	gnomAD
CPLANE1	Q9H799	p.Gly928Ala	COSM449611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37213696C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gly928Asp	rs1282527770	missense variant	-	NC_000005.10:g.37213696C>T	gnomAD
CPLANE1	Q9H799	p.Gly929Ser	rs1341411250	missense variant	-	NC_000005.10:g.37213694C>T	gnomAD
CPLANE1	Q9H799	p.Gly929Asp	rs1277317146	missense variant	-	NC_000005.10:g.37213693C>T	gnomAD
CPLANE1	Q9H799	p.Glu933Asp	rs779736527	missense variant	-	NC_000005.10:g.37213680C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala934Gly	rs1303627759	missense variant	-	NC_000005.10:g.37213678G>C	gnomAD
CPLANE1	Q9H799	p.Arg937Thr	rs1404726579	missense variant	-	NC_000005.10:g.37213669C>G	gnomAD
CPLANE1	Q9H799	p.Val938Leu	rs1387915213	missense variant	-	NC_000005.10:g.37213667C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val938Ile	rs1387915213	missense variant	-	NC_000005.10:g.37213667C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val939Ile	rs1048318459	missense variant	-	NC_000005.10:g.37213664C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln940Arg	rs1471773265	missense variant	-	NC_000005.10:g.37213660T>C	TOPMed
CPLANE1	Q9H799	p.Gln940His	rs1158643659	missense variant	-	NC_000005.10:g.37213659C>G	TOPMed
CPLANE1	Q9H799	p.Ser941Cys	rs1369179543	missense variant	-	NC_000005.10:g.37213657G>C	TOPMed
CPLANE1	Q9H799	p.Ser941Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37213657G>T	NCI-TCGA
CPLANE1	Q9H799	p.Met942Val	rs918958290	missense variant	-	NC_000005.10:g.37213655T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met942Ile	rs1370968866	missense variant	-	NC_000005.10:g.37213653C>T	gnomAD
CPLANE1	Q9H799	p.Met942Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37213655T>A	NCI-TCGA
CPLANE1	Q9H799	p.Met942Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37213653C>A	NCI-TCGA
CPLANE1	Q9H799	p.Arg944His	RCV000201577	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37213648C>T	ClinVar
CPLANE1	Q9H799	p.Arg944His	rs863225165	missense variant	-	NC_000005.10:g.37213648C>T	gnomAD
CPLANE1	Q9H799	p.Phe945Val	rs573980625	missense variant	-	NC_000005.10:g.37213646A>C	gnomAD
CPLANE1	Q9H799	p.Met946Val	rs1451574917	missense variant	-	NC_000005.10:g.37213643T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr949Asp	rs1363586663	missense variant	-	NC_000005.10:g.37213634A>C	TOPMed
CPLANE1	Q9H799	p.Tyr949Cys	rs1287781089	missense variant	-	NC_000005.10:g.37213633T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe950Val	RCV000175099	missense variant	-	NC_000005.10:g.37213631A>C	ClinVar
CPLANE1	Q9H799	p.Phe950Val	rs794727177	missense variant	-	NC_000005.10:g.37213631A>C	-
CPLANE1	Q9H799	p.Thr951Pro	rs1197686499	missense variant	-	NC_000005.10:g.37213628T>G	gnomAD
CPLANE1	Q9H799	p.Asn952Ser	rs554483416	missense variant	-	NC_000005.10:g.37213624T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln954Ter	rs1352090701	stop gained	-	NC_000005.10:g.37213619G>A	TOPMed
CPLANE1	Q9H799	p.Pro960LeuPheSerTerUnk	COSM1437374	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37213600G>-	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro960Leu	rs758978371	missense variant	-	NC_000005.10:g.37213600G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His961Tyr	rs1275265369	missense variant	-	NC_000005.10:g.37213598G>A	gnomAD
CPLANE1	Q9H799	p.His962Arg	rs926554823	missense variant	-	NC_000005.10:g.37213594T>C	gnomAD
CPLANE1	Q9H799	p.Val965Gly	rs1172167327	missense variant	-	NC_000005.10:g.37213585A>C	gnomAD
CPLANE1	Q9H799	p.Val965Leu	rs1221769879	missense variant	-	NC_000005.10:g.37213586C>G	TOPMed
CPLANE1	Q9H799	p.Pro967Ser	rs1329332026	missense variant	-	NC_000005.10:g.37213580G>A	gnomAD
CPLANE1	Q9H799	p.Pro968Ser	rs980413221	missense variant	-	NC_000005.10:g.37213577G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys972Gln	rs1246298475	missense variant	-	NC_000005.10:g.37213565T>G	TOPMed
CPLANE1	Q9H799	p.Gln975Ter	RCV000201687	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206423G>A	ClinVar
CPLANE1	Q9H799	p.Gln975Ter	rs863225166	stop gained	-	NC_000005.10:g.37206423G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln975Glu	rs863225166	missense variant	-	NC_000005.10:g.37206423G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg978Ter	rs1359437084	stop gained	-	NC_000005.10:g.37206414G>A	gnomAD
CPLANE1	Q9H799	p.Arg978Gln	rs992985282	missense variant	-	NC_000005.10:g.37206413C>T	gnomAD
CPLANE1	Q9H799	p.Leu979Arg	rs766715085	missense variant	-	NC_000005.10:g.37206410A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile980Leu	rs956289118	missense variant	-	NC_000005.10:g.37206408T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile980Ter	RCV000723180	frameshift	-	NC_000005.10:g.37206410dup	ClinVar
CPLANE1	Q9H799	p.Ile980Thr	rs1160747089	missense variant	-	NC_000005.10:g.37206407A>G	gnomAD
CPLANE1	Q9H799	p.Ile980Val	rs956289118	missense variant	-	NC_000005.10:g.37206408T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.His984Arg	rs1314490904	missense variant	-	NC_000005.10:g.37206395T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser985Cys	rs1329807288	missense variant	-	NC_000005.10:g.37206392G>C	TOPMed
CPLANE1	Q9H799	p.Ser985Pro	rs1379745252	missense variant	-	NC_000005.10:g.37206393A>G	gnomAD
CPLANE1	Q9H799	p.Lys986Gln	rs1342753709	missense variant	-	NC_000005.10:g.37206390T>G	gnomAD
CPLANE1	Q9H799	p.Val987Gly	rs1176915573	missense variant	-	NC_000005.10:g.37206386A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser989Arg	rs1462822702	missense variant	-	NC_000005.10:g.37206381T>G	gnomAD
CPLANE1	Q9H799	p.Ser989Gly	rs1462822702	missense variant	-	NC_000005.10:g.37206381T>C	gnomAD
CPLANE1	Q9H799	p.Val991Ile	rs1238203196	missense variant	-	NC_000005.10:g.37206375C>T	gnomAD
CPLANE1	Q9H799	p.Gln994Glu	rs1209703558	missense variant	-	NC_000005.10:g.37206366G>C	gnomAD
CPLANE1	Q9H799	p.Trp1000Leu	RCV000201737	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206347C>A	ClinVar
CPLANE1	Q9H799	p.Trp1000Gly	rs1240740708	missense variant	-	NC_000005.10:g.37206348A>C	gnomAD
CPLANE1	Q9H799	p.Trp1000Leu	rs773362418	missense variant	-	NC_000005.10:g.37206347C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1001Ala	rs772005320	missense variant	-	NC_000005.10:g.37206345T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1003Ter	rs863225162	stop gained	-	NC_000005.10:g.37206339C>A	-
CPLANE1	Q9H799	p.Glu1003Ter	RCV000201644	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206339C>A	ClinVar
CPLANE1	Q9H799	p.Leu1006Phe	rs1301839758	missense variant	-	NC_000005.10:g.37206330G>A	gnomAD
CPLANE1	Q9H799	p.Leu1009Pro	rs1300486446	missense variant	-	NC_000005.10:g.37206320A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1010Tyr	rs1420827349	missense variant	-	NC_000005.10:g.37206317A>T	gnomAD
CPLANE1	Q9H799	p.Gly1013Cys	rs1360522942	missense variant	-	NC_000005.10:g.37206309C>A	gnomAD
CPLANE1	Q9H799	p.Gly1013Ser	rs1360522942	missense variant	-	NC_000005.10:g.37206309C>T	gnomAD
CPLANE1	Q9H799	p.Leu1014Val	rs969126655	missense variant	-	NC_000005.10:g.37206306G>C	-
CPLANE1	Q9H799	p.Leu1014Pro	rs1197597342	missense variant	-	NC_000005.10:g.37206305A>G	TOPMed
CPLANE1	Q9H799	p.Leu1014TrpPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37206306G>-	NCI-TCGA
CPLANE1	Q9H799	p.Leu1014Val	RCV000555836	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37206306G>C	ClinVar
CPLANE1	Q9H799	p.Val1019Gly	rs76021509	missense variant	-	NC_000005.10:g.37206290A>C	TOPMed
CPLANE1	Q9H799	p.Val1019Ala	rs76021509	missense variant	-	NC_000005.10:g.37206290A>G	TOPMed
CPLANE1	Q9H799	p.Leu1021Trp	rs1473872367	missense variant	-	NC_000005.10:g.37206284A>C	TOPMed
CPLANE1	Q9H799	p.Ala1022Val	rs1181461470	missense variant	-	NC_000005.10:g.37206281G>A	gnomAD
CPLANE1	Q9H799	p.Lys1024Glu	rs962053628	missense variant	-	NC_000005.10:g.37206276T>C	TOPMed
CPLANE1	Q9H799	p.Lys1024Arg	rs1471953664	missense variant	-	NC_000005.10:g.37206275T>C	gnomAD
CPLANE1	Q9H799	p.Leu1025Phe	rs1243607309	missense variant	-	NC_000005.10:g.37206273G>A	gnomAD
CPLANE1	Q9H799	p.Leu1025Pro	rs1411699843	missense variant	-	NC_000005.10:g.37206272A>G	TOPMed
CPLANE1	Q9H799	p.Gly1026Ala	rs1015914518	missense variant	-	NC_000005.10:g.37206269C>G	TOPMed
CPLANE1	Q9H799	p.Trp1028Ter	rs1217138915	stop gained	-	NC_000005.10:g.37206262C>T	gnomAD
CPLANE1	Q9H799	p.Thr1030Met	rs370057798	missense variant	-	NC_000005.10:g.37206257G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1034Val	rs965483152	missense variant	-	NC_000005.10:g.37206246T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1034Thr	rs1404945116	missense variant	-	NC_000005.10:g.37206245A>G	TOPMed
CPLANE1	Q9H799	p.Gly1035Ala	rs1019442092	missense variant	-	NC_000005.10:g.37206242C>G	gnomAD
CPLANE1	Q9H799	p.Ala1037Gly	rs1364362627	missense variant	-	NC_000005.10:g.37206236G>C	gnomAD
CPLANE1	Q9H799	p.Gln1039Leu	COSM4924241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37206230T>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln1039Ter	rs1161096932	stop gained	-	NC_000005.10:g.37206231G>A	gnomAD
CPLANE1	Q9H799	p.Lys1043Gln	rs528530069	missense variant	-	NC_000005.10:g.37206219T>G	1000Genomes
CPLANE1	Q9H799	p.Arg1044Ter	RCV000201725	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206215_37206216insT	ClinVar
CPLANE1	Q9H799	p.Arg1044Cys	rs376987361	missense variant	-	NC_000005.10:g.37206216G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1044His	rs779754977	missense variant	-	NC_000005.10:g.37206215C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1045Gly	rs1280487370	missense variant	-	NC_000005.10:g.37206212T>C	gnomAD
CPLANE1	Q9H799	p.Asn1047Ser	rs1400923516	missense variant	-	NC_000005.10:g.37206206T>C	gnomAD
CPLANE1	Q9H799	p.Phe1048Leu	rs769461781	missense variant	-	NC_000005.10:g.37206204A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1049Leu	rs887015086	missense variant	-	NC_000005.10:g.37206201T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1049Ile	rs200896462	missense variant	-	NC_000005.10:g.37206199C>T	gnomAD
CPLANE1	Q9H799	p.Met1049Val	rs887015086	missense variant	-	NC_000005.10:g.37206201T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1051Thr	rs1178037372	missense variant	-	NC_000005.10:g.37205453A>T	gnomAD
CPLANE1	Q9H799	p.Lys1052Arg	rs754271101	missense variant	-	NC_000005.10:g.37205449T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1054Met	rs1410870241	missense variant	-	NC_000005.10:g.37205443T>A	gnomAD
CPLANE1	Q9H799	p.Ser1055Ile	rs1189416710	missense variant	-	NC_000005.10:g.37205440C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1055Gly	rs1266505643	missense variant	-	NC_000005.10:g.37205441T>C	gnomAD
CPLANE1	Q9H799	p.Leu1060Phe	rs1197590494	missense variant	-	NC_000005.10:g.37205426G>A	gnomAD
CPLANE1	Q9H799	p.Arg1061His	rs1201581872	missense variant	-	NC_000005.10:g.37205422C>T	TOPMed
CPLANE1	Q9H799	p.Arg1061Cys	rs199563006	missense variant	-	NC_000005.10:g.37205423G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1062Leu	rs1406242772	missense variant	-	NC_000005.10:g.37205420T>G	gnomAD
CPLANE1	Q9H799	p.Ala1065Glu	rs1242248719	missense variant	-	NC_000005.10:g.37205410G>T	TOPMed
CPLANE1	Q9H799	p.Gln1066Arg	rs369082275	missense variant	-	NC_000005.10:g.37205407T>C	gnomAD
CPLANE1	Q9H799	p.Gln1066His	rs1465075046	missense variant	-	NC_000005.10:g.37205406C>G	TOPMed
CPLANE1	Q9H799	p.Ile1067Met	rs1239997325	missense variant	-	NC_000005.10:g.37205403A>C	TOPMed
CPLANE1	Q9H799	p.Ile1067Leu	rs1190026032	missense variant	-	NC_000005.10:g.37205405T>G	TOPMed
CPLANE1	Q9H799	p.Gly1077Asp	rs1301115182	missense variant	-	NC_000005.10:g.37205374C>T	gnomAD
CPLANE1	Q9H799	p.Gln1078His	rs756432435	missense variant	-	NC_000005.10:g.37205370T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1080Gly	rs1172631763	missense variant	-	NC_000005.10:g.37205365G>C	TOPMed
CPLANE1	Q9H799	p.Ser1081Pro	rs1446297280	missense variant	-	NC_000005.10:g.37205363A>G	gnomAD
CPLANE1	Q9H799	p.Leu1082Ser	rs943993886	missense variant	-	NC_000005.10:g.37205359A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1084Thr	COSM1067808	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37205354C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Met1088Ile	rs1389757083	missense variant	-	NC_000005.10:g.37205340C>T	TOPMed
CPLANE1	Q9H799	p.Ser1090Leu	rs1376881560	missense variant	-	NC_000005.10:g.37205335G>A	gnomAD
CPLANE1	Q9H799	p.Tyr1092Ser	rs1173823587	missense variant	-	NC_000005.10:g.37205329T>G	gnomAD
CPLANE1	Q9H799	p.Phe1095Tyr	rs767757162	missense variant	-	NC_000005.10:g.37205320A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1096Ile	rs1036608976	missense variant	-	NC_000005.10:g.37205317G>A	TOPMed
CPLANE1	Q9H799	p.Asp1097Asn	rs1380357933	missense variant	-	NC_000005.10:g.37205315C>T	gnomAD
CPLANE1	Q9H799	p.Pro1098His	rs780671780	missense variant	-	NC_000005.10:g.37201805G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1099Val	RCV000406412	missense variant	-	NC_000005.10:g.37201803T>C	ClinVar
CPLANE1	Q9H799	p.Ile1099Thr	rs756480354	missense variant	-	NC_000005.10:g.37201802A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1099Val	rs768197468	missense variant	-	NC_000005.10:g.37201803T>C	gnomAD
CPLANE1	Q9H799	p.Val1111Ile	rs1378437370	missense variant	-	NC_000005.10:g.37201767C>T	TOPMed
CPLANE1	Q9H799	p.Gln1112Lys	rs538177758	missense variant	-	NC_000005.10:g.37201764G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1112Glu	rs538177758	missense variant	-	NC_000005.10:g.37201764G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1114Glu	RCV000368547	missense variant	-	NC_000005.10:g.37201757A>T	ClinVar
CPLANE1	Q9H799	p.Val1114Glu	rs746467519	missense variant	-	NC_000005.10:g.37201757A>T	-
CPLANE1	Q9H799	p.Ala1117Thr	rs1348576437	missense variant	-	NC_000005.10:g.37201749C>T	gnomAD
CPLANE1	Q9H799	p.Ala1117Val	rs764120813	missense variant	-	NC_000005.10:g.37201748G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1119Ala	COSM259832	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201742A>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp1122Gly	rs1401548587	missense variant	-	NC_000005.10:g.37201733T>C	gnomAD
CPLANE1	Q9H799	p.Asp1122Asn	rs775457117	missense variant	-	NC_000005.10:g.37201734C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1124Glu	rs527486565	missense variant	-	NC_000005.10:g.37201726A>C	1000Genomes
CPLANE1	Q9H799	p.Ile1125Met	rs1417822500	missense variant	-	NC_000005.10:g.37201723A>C	gnomAD
CPLANE1	Q9H799	p.Ile1125Thr	rs765146058	missense variant	-	NC_000005.10:g.37201724A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1125Val	rs1340915184	missense variant	-	NC_000005.10:g.37201725T>C	gnomAD
CPLANE1	Q9H799	p.Leu1126Phe	COSM3855093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201722G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Leu1126Val	rs759320408	missense variant	-	NC_000005.10:g.37201722G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1127Leu	RCV000521353	missense variant	-	NC_000005.10:g.37201718G>A	ClinVar
CPLANE1	Q9H799	p.Ser1127Leu	RCV000501748	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37201718G>A	ClinVar
CPLANE1	Q9H799	p.Ser1127Ala	rs776423792	missense variant	-	NC_000005.10:g.37201719A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1127Leu	rs375009168	missense variant	-	NC_000005.10:g.37201718G>A	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1127Ter	rs375009168	stop gained	-	NC_000005.10:g.37201718G>T	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1127Leu	rs375009168	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37201718G>A	UniProt,dbSNP
CPLANE1	Q9H799	p.Ser1127Leu	VAR_072553	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37201718G>A	UniProt
CPLANE1	Q9H799	p.Ser1127Ter	RCV000288858	nonsense	-	NC_000005.10:g.37201718G>T	ClinVar
CPLANE1	Q9H799	p.Thr1129Ala	rs1376836151	missense variant	-	NC_000005.10:g.37201713T>C	TOPMed
CPLANE1	Q9H799	p.Phe1130Ser	rs984628582	missense variant	-	NC_000005.10:g.37201709A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1132Pro	rs772877798	missense variant	-	NC_000005.10:g.37201703A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1132Phe	rs1039665987	missense variant	-	NC_000005.10:g.37201704G>A	TOPMed
CPLANE1	Q9H799	p.Leu1133Met	COSM737876	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201701G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp1135Glu	rs756639207	missense variant	-	NC_000005.10:g.37201693G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1135Tyr	rs747635859	missense variant	-	NC_000005.10:g.37201695C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1135Val	rs780763762	missense variant	-	NC_000005.10:g.37201694T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1135Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37201695C>T	NCI-TCGA
CPLANE1	Q9H799	p.Ser1136Ter	RCV000689626	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37201691del	ClinVar
CPLANE1	Q9H799	p.Ser1136Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37201691G>C	NCI-TCGA
CPLANE1	Q9H799	p.Ala1137Val	rs1210576061	missense variant	-	NC_000005.10:g.37201688G>A	gnomAD
CPLANE1	Q9H799	p.Ala1137Thr	rs1008545236	missense variant	-	NC_000005.10:g.37201689C>T	TOPMed
CPLANE1	Q9H799	p.Lys1138Glu	rs746221254	missense variant	-	NC_000005.10:g.37201686T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Phe1140Leu	rs150425494	missense variant	-	NC_000005.10:g.37201680A>G	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1141Asn	rs1220722758	missense variant	-	NC_000005.10:g.37201676C>T	gnomAD
CPLANE1	Q9H799	p.Arg1143Lys	rs377503881	missense variant	-	NC_000005.10:g.37201670C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1146Asp	COSM6103717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201661C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gly1146Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37201661C>G	NCI-TCGA
CPLANE1	Q9H799	p.Pro1149Ser	rs1277375602	missense variant	-	NC_000005.10:g.37201653G>A	gnomAD
CPLANE1	Q9H799	p.Pro1149Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37201653G>T	NCI-TCGA
CPLANE1	Q9H799	p.Gly1151Asp	rs1385676594	missense variant	-	NC_000005.10:g.37201646C>T	gnomAD
CPLANE1	Q9H799	p.Gly1151Ser	rs758532792	missense variant	-	NC_000005.10:g.37201647C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1157Ala	rs1188212004	missense variant	-	NC_000005.10:g.37201629G>C	TOPMed
CPLANE1	Q9H799	p.Cys1161Arg	rs765095201	missense variant	-	NC_000005.10:g.37201617A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1162Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37201614G>T	NCI-TCGA
CPLANE1	Q9H799	p.Pro1164Thr	rs147670074	missense variant	-	NC_000005.10:g.37201608G>T	gnomAD
CPLANE1	Q9H799	p.Pro1164Ser	rs147670074	missense variant	-	NC_000005.10:g.37201608G>A	gnomAD
CPLANE1	Q9H799	p.Ala1165Val	rs759463156	missense variant	-	NC_000005.10:g.37201604G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1166Thr	rs201653949	missense variant	-	NC_000005.10:g.37201601A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1168Asn	rs1200221535	missense variant	-	NC_000005.10:g.37201595C>T	gnomAD
CPLANE1	Q9H799	p.Glu1169Lys	COSM3616009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37201593C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gly1172Arg	rs1345711681	missense variant	-	NC_000005.10:g.37198860C>G	gnomAD
CPLANE1	Q9H799	p.Gly1172Asp	rs766202411	missense variant	-	NC_000005.10:g.37198859C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1172Ser	rs1345711681	missense variant	-	NC_000005.10:g.37198860C>T	gnomAD
CPLANE1	Q9H799	p.Asp1174Tyr	rs760601336	missense variant	-	NC_000005.10:g.37198854C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1175Phe	rs367962908	missense variant	-	NC_000005.10:g.37198851G>A	ESP,ExAC
CPLANE1	Q9H799	p.Leu1176His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37198847A>T	NCI-TCGA
CPLANE1	Q9H799	p.Leu1176Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37198848G>T	NCI-TCGA
CPLANE1	Q9H799	p.Lys1178Asn	rs144890880	missense variant	-	NC_000005.10:g.37198840T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1181Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37198833T>G	NCI-TCGA
CPLANE1	Q9H799	p.Asn1182Ser	rs768254433	missense variant	-	NC_000005.10:g.37198829T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1182IlePheSerTerUnkUnk	rs769153428	frameshift	-	NC_000005.10:g.37198829T>-	NCI-TCGA
CPLANE1	Q9H799	p.Asn1182Ile	rs768254433	missense variant	-	NC_000005.10:g.37198829T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1183Ser	rs762349115	missense variant	-	NC_000005.10:g.37198826T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1184His	rs548645125	missense variant	-	NC_000005.10:g.37198823C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1184Leu	rs548645125	missense variant	-	NC_000005.10:g.37198823C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1184Cys	rs1434631255	missense variant	-	NC_000005.10:g.37198824G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1186Arg	rs747382965	missense variant	-	NC_000005.10:g.37198817T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1187Ile	rs1181751560	missense variant	-	NC_000005.10:g.37198815C>T	TOPMed
CPLANE1	Q9H799	p.Ser1188Cys	rs1044536894	missense variant	-	NC_000005.10:g.37198811G>C	gnomAD
CPLANE1	Q9H799	p.Ile1190Val	rs1418793562	missense variant	-	NC_000005.10:g.37198806T>C	TOPMed
CPLANE1	Q9H799	p.Gln1192Ter	rs1162813263	stop gained	-	NC_000005.10:g.37198800G>A	TOPMed
CPLANE1	Q9H799	p.Gln1192Arg	rs778057793	missense variant	-	NC_000005.10:g.37198799T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1192Ter	rs1162813263	stop gained	-	NC_000005.10:g.37198800G>A	NCI-TCGA
CPLANE1	Q9H799	p.Arg1193Cys	rs149170427	missense variant	-	NC_000005.10:g.37198797G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1193His	rs751692515	missense variant	-	NC_000005.10:g.37198796C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1193His	rs751692515	missense variant	-	NC_000005.10:g.37198796C>T	NCI-TCGA
CPLANE1	Q9H799	p.Arg1193Cys	RCV000646706	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37198797G>A	ClinVar
CPLANE1	Q9H799	p.Val1194Leu	rs778969792	missense variant	-	NC_000005.10:g.37198794C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1195Phe	COSM1067806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37198791G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Leu1195Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37198791G>T	NCI-TCGA
CPLANE1	Q9H799	p.Leu1196Arg	VAR_076778	Missense	-	-	UniProt
CPLANE1	Q9H799	p.Arg1199Trp	rs374075447	missense variant	-	NC_000005.10:g.37198779G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1199Trp	RCV000378181	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37198779G>A	ClinVar
CPLANE1	Q9H799	p.Arg1199Gln	rs569380288	missense variant	-	NC_000005.10:g.37198778C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1200Val	rs141153181	missense variant	-	NC_000005.10:g.37198775G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1200Glu	rs141153181	missense variant	-	NC_000005.10:g.37198775G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1200Val	rs141153181	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37198775G>A	UniProt,dbSNP
CPLANE1	Q9H799	p.Ala1200Val	VAR_077558	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37198775G>A	UniProt
CPLANE1	Q9H799	p.Ala1200Val	RCV000255261	missense variant	-	NC_000005.10:g.37198775G>A	ClinVar
CPLANE1	Q9H799	p.Ala1200Val	RCV000201619	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37198775G>A	ClinVar
CPLANE1	Q9H799	p.Gln1202Pro	rs1355627908	missense variant	-	NC_000005.10:g.37198769T>G	TOPMed
CPLANE1	Q9H799	p.Gln1202Ter	rs750256343	stop gained	-	NC_000005.10:g.37198770G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys1203Tyr	rs1285153556	missense variant	-	NC_000005.10:g.37198766C>T	gnomAD
CPLANE1	Q9H799	p.Cys1203Arg	rs1234733049	missense variant	-	NC_000005.10:g.37198767A>G	TOPMed
CPLANE1	Q9H799	p.Ser1204Phe	rs370215852	missense variant	-	NC_000005.10:g.37198763G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1206Ser	rs751276020	missense variant	-	NC_000005.10:g.37198758G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1206Ser	rs751276020	missense variant	-	NC_000005.10:g.37198758G>A	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Val1207Ile	rs1420878101	missense variant	-	NC_000005.10:g.37198755C>T	gnomAD
CPLANE1	Q9H799	p.Val1207Ala	rs763642816	missense variant	-	NC_000005.10:g.37198754A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1208Val	rs1253543807	missense variant	-	NC_000005.10:g.37198751G>A	TOPMed
CPLANE1	Q9H799	p.Ala1208Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37198752C>T	NCI-TCGA
CPLANE1	Q9H799	p.Gln1209Arg	rs762591555	missense variant	-	NC_000005.10:g.37198748T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1209Pro	rs762591555	missense variant	-	NC_000005.10:g.37198748T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1209Pro	RCV000499935	missense variant	-	NC_000005.10:g.37198748T>G	ClinVar
CPLANE1	Q9H799	p.Trp1210Arg	rs774797422	missense variant	-	NC_000005.10:g.37198746A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1214Ter	rs1258500319	stop gained	-	NC_000005.10:g.37198734G>A	TOPMed
CPLANE1	Q9H799	p.Ala1218Thr	rs772468592	missense variant	-	NC_000005.10:g.37198722C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1219Gly	rs748487179	missense variant	-	NC_000005.10:g.37198719T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1220Glu	rs1486811354	missense variant	-	NC_000005.10:g.37198716T>C	TOPMed
CPLANE1	Q9H799	p.Met1222Thr	RCV000658399	missense variant	-	NC_000005.10:g.37198709A>G	ClinVar
CPLANE1	Q9H799	p.Met1222Thr	rs768751619	missense variant	-	NC_000005.10:g.37198709A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1222Val	rs551169453	missense variant	-	NC_000005.10:g.37198710T>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Met1222Ile	rs1223217993	missense variant	-	NC_000005.10:g.37198708C>T	gnomAD
CPLANE1	Q9H799	p.Arg1226Ter	rs749421099	stop gained	-	NC_000005.10:g.37195993G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1226Gln	COSM2688356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37195992C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg1226Ter	RCV000493929	nonsense	-	NC_000005.10:g.37195993G>A	ClinVar
CPLANE1	Q9H799	p.Arg1226SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37195993_37195994insATTTGGGA	NCI-TCGA
CPLANE1	Q9H799	p.Arg1226Ter	rs749421099	stop gained	-	NC_000005.10:g.37195993G>A	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gly1229Arg	rs1057522278	missense variant	-	NC_000005.10:g.37195984C>G	-
CPLANE1	Q9H799	p.Gly1229Arg	RCV000432714	missense variant	-	NC_000005.10:g.37195984C>G	ClinVar
CPLANE1	Q9H799	p.Ser1230Phe	rs1221461456	missense variant	-	NC_000005.10:g.37195980G>A	gnomAD
CPLANE1	Q9H799	p.Leu1231Pro	rs1325366988	missense variant	-	NC_000005.10:g.37195977A>G	gnomAD
CPLANE1	Q9H799	p.Pro1232Ser	COSM1695635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37195975G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro1236Arg	rs1438970950	missense variant	-	NC_000005.10:g.37195962G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1236Leu	rs1438970950	missense variant	-	NC_000005.10:g.37195962G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1237Leu	rs376959659	missense variant	-	NC_000005.10:g.37195960A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1239Leu	rs745930406	missense variant	-	NC_000005.10:g.37195953T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1239Pro	rs745930406	missense variant	-	NC_000005.10:g.37195953T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1239Arg	rs745930406	missense variant	-	NC_000005.10:g.37195953T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1243Ser	rs1384765402	missense variant	-	NC_000005.10:g.37195941T>C	TOPMed
CPLANE1	Q9H799	p.Gly1247Glu	COSM1695633	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37195929C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gly1248Asp	RCV000544915	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37195926C>T	ClinVar
CPLANE1	Q9H799	p.Gly1248Val	rs72736758	missense variant	-	NC_000005.10:g.37195926C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1248Ser	rs770925354	missense variant	-	NC_000005.10:g.37195927C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1248Asp	rs72736758	missense variant	-	NC_000005.10:g.37195926C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1248Asp	RCV000145359	missense variant	-	NC_000005.10:g.37195926C>T	ClinVar
CPLANE1	Q9H799	p.Ile1249Asn	rs1447664633	missense variant	-	NC_000005.10:g.37195923A>T	gnomAD
CPLANE1	Q9H799	p.Ala1250Pro	rs752334335	missense variant	-	NC_000005.10:g.37195921C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1250Thr	rs752334335	missense variant	-	NC_000005.10:g.37195921C>T	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ala1250Thr	rs752334335	missense variant	-	NC_000005.10:g.37195921C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1250Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37195920G>T	NCI-TCGA
CPLANE1	Q9H799	p.Phe1251Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37195917A>T	NCI-TCGA
CPLANE1	Q9H799	p.Phe1252LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37195913A>-	NCI-TCGA
CPLANE1	Q9H799	p.Pro1254His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37195908G>T	NCI-TCGA
CPLANE1	Q9H799	p.Gly1255Arg	rs1197175701	missense variant	-	NC_000005.10:g.37195906C>T	TOPMed
CPLANE1	Q9H799	p.Ala1257Asp	rs527328313	missense variant	-	NC_000005.10:g.37195899G>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.His1260Tyr	rs768012177	missense variant	-	NC_000005.10:g.37195891G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1260Asp	rs768012177	missense variant	-	NC_000005.10:g.37195891G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1261Arg	rs1189719264	missense variant	-	NC_000005.10:g.37195887T>C	gnomAD
CPLANE1	Q9H799	p.Leu1262Ile	rs1313359795	missense variant	-	NC_000005.10:g.37195885G>T	gnomAD
CPLANE1	Q9H799	p.Asp1263Asn	rs751975523	missense variant	-	NC_000005.10:g.37195882C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1263His	rs751975523	missense variant	-	NC_000005.10:g.37195882C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1263Asn	rs751975523	missense variant	-	NC_000005.10:g.37195882C>T	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser1266Phe	COSM3616005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37195872G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser1266Ala	rs1310199621	missense variant	-	NC_000005.10:g.37195873A>C	gnomAD
CPLANE1	Q9H799	p.Ile1267Val	rs763344941	missense variant	-	NC_000005.10:g.37195870T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1267Asn	rs1212662578	missense variant	-	NC_000005.10:g.37195869A>T	gnomAD
CPLANE1	Q9H799	p.Ala1269Val	rs1304431838	missense variant	-	NC_000005.10:g.37195863G>A	gnomAD
CPLANE1	Q9H799	p.Ala1269Pro	rs775914551	missense variant	-	NC_000005.10:g.37195864C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1270Thr	rs1466483851	missense variant	-	NC_000005.10:g.37195860A>G	gnomAD
CPLANE1	Q9H799	p.Ile1270Val	rs1391167819	missense variant	-	NC_000005.10:g.37195861T>C	TOPMed
CPLANE1	Q9H799	p.Ile1270Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37195860A>C	NCI-TCGA
CPLANE1	Q9H799	p.Gly1271Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37195858C>A	NCI-TCGA
CPLANE1	Q9H799	p.Glu1275Ter	COSM259830	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37187831C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1275Asp	COSM3855085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187829T>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1275Gly	rs1354601410	missense variant	-	NC_000005.10:g.37187830T>C	gnomAD
CPLANE1	Q9H799	p.Cys1277Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37187824C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ala1278Val	rs1285942232	missense variant	-	NC_000005.10:g.37187821G>A	gnomAD
CPLANE1	Q9H799	p.Cys1280Tyr	rs149685637	missense variant	-	NC_000005.10:g.37187815C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1282Ile	rs1554086273	missense variant	-	NC_000005.10:g.37187808C>T	-
CPLANE1	Q9H799	p.Met1282Ile	RCV000593461	missense variant	-	NC_000005.10:g.37187808C>T	ClinVar
CPLANE1	Q9H799	p.Val1285Ile	rs750886653	missense variant	-	NC_000005.10:g.37187801C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1286His	rs139464953	missense variant	-	NC_000005.10:g.37187797C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1286Gly	rs757814360	missense variant	-	NC_000005.10:g.37187798G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1286Cys	rs757814360	missense variant	-	NC_000005.10:g.37187798G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1287His	rs606231261	missense variant	-	NC_000005.10:g.37187795C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1287His	RCV000144861	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187795C>G	ClinVar
CPLANE1	Q9H799	p.Ser1290Cys	COSM3994304	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187785G>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Tyr1291Cys	rs372625524	missense variant	-	NC_000005.10:g.37187782T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys1293Tyr	rs1430788919	missense variant	-	NC_000005.10:g.37187776C>T	TOPMed
CPLANE1	Q9H799	p.Gln1295Pro	rs1262508455	missense variant	-	NC_000005.10:g.37187770T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1297Pro	rs765570914	missense variant	-	NC_000005.10:g.37187764T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1299Thr	rs759784464	missense variant	-	NC_000005.10:g.37187759C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1301Ter	COSM3429427	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37187753C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Val1303Ala	rs1333838533	missense variant	-	NC_000005.10:g.37187746A>G	gnomAD
CPLANE1	Q9H799	p.Glu1306Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37187738C>A	NCI-TCGA
CPLANE1	Q9H799	p.Glu1310Lys	COSM3828035	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187566C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1310Gln	rs1408467437	missense variant	-	NC_000005.10:g.37187566C>G	TOPMed
CPLANE1	Q9H799	p.Val1311Met	rs372325164	missense variant	-	NC_000005.10:g.37187563C>T	TOPMed
CPLANE1	Q9H799	p.Glu1312Gln	rs766614269	missense variant	-	NC_000005.10:g.37187560C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1312Lys	rs766614269	missense variant	-	NC_000005.10:g.37187560C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1313Leu	rs1011254847	missense variant	-	NC_000005.10:g.37187557A>G	TOPMed
CPLANE1	Q9H799	p.Asp1314His	COSM3828033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187554C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser1315Phe	rs1214966380	missense variant	-	NC_000005.10:g.37187550G>A	TOPMed
CPLANE1	Q9H799	p.Cys1316Tyr	rs760729964	missense variant	-	NC_000005.10:g.37187547C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1317Val	rs1474739966	missense variant	-	NC_000005.10:g.37187545T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1318Val	rs773273065	missense variant	-	NC_000005.10:g.37187542T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1320Gln	rs767365216	missense variant	-	NC_000005.10:g.37187534G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys1321Ser	rs1251315523	missense variant	-	NC_000005.10:g.37187533A>T	gnomAD
CPLANE1	Q9H799	p.Glu1326Gln	rs774161604	missense variant	-	NC_000005.10:g.37187518C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp1327Cys	rs899509090	missense variant	-	NC_000005.10:g.37187513C>A	TOPMed
CPLANE1	Q9H799	p.Ala1328Thr	rs768480018	missense variant	-	NC_000005.10:g.37187512C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1328Ser	rs768480018	missense variant	-	NC_000005.10:g.37187512C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1336Trp	rs367543061	missense variant	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37187488G>A	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1336Gln	rs749057824	missense variant	-	NC_000005.10:g.37187487C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1336Trp	rs367543061	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37187488G>A	UniProt,dbSNP
CPLANE1	Q9H799	p.Arg1336Trp	VAR_068165	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37187488G>A	UniProt
CPLANE1	Q9H799	p.Arg1336Trp	RCV000522403	missense variant	-	NC_000005.10:g.37187488G>A	ClinVar
CPLANE1	Q9H799	p.Arg1336Gln	rs749057824	missense variant	-	NC_000005.10:g.37187487C>T	NCI-TCGA
CPLANE1	Q9H799	p.Phe1337Leu	rs775061417	missense variant	-	NC_000005.10:g.37187485A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1338Leu	COSM3855083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187482A>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asn1339Ser	rs1336701878	missense variant	-	NC_000005.10:g.37187478T>C	gnomAD
CPLANE1	Q9H799	p.Met1340Thr	rs769423338	missense variant	-	NC_000005.10:g.37187475A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1341Lys	COSM1437364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187473C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1342Lys	rs1475996936	missense variant	-	NC_000005.10:g.37187470C>T	TOPMed
CPLANE1	Q9H799	p.Gln1345Ter	rs1408712462	stop gained	-	NC_000005.10:g.37187461G>A	gnomAD
CPLANE1	Q9H799	p.Gln1345Arg	rs869312898	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187460T>C	UniProt,dbSNP
CPLANE1	Q9H799	p.Gln1345Arg	VAR_076779	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187460T>C	UniProt
CPLANE1	Q9H799	p.Gln1345Arg	rs869312898	missense variant	-	NC_000005.10:g.37187460T>C	-
CPLANE1	Q9H799	p.Gln1345Arg	RCV000210418	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187460T>C	ClinVar
CPLANE1	Q9H799	p.Asp1346Asn	rs1184183855	missense variant	-	NC_000005.10:g.37187458C>T	gnomAD
CPLANE1	Q9H799	p.Ile1347Leu	rs745385982	missense variant	-	NC_000005.10:g.37187455T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1348Val	rs1174835605	missense variant	-	NC_000005.10:g.37187452T>C	gnomAD
CPLANE1	Q9H799	p.Ile1348Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37187452T>G	NCI-TCGA
CPLANE1	Q9H799	p.Ser1350Thr	rs1434137839	missense variant	-	NC_000005.10:g.37187445C>G	gnomAD
CPLANE1	Q9H799	p.Ser1350Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37187445C>T	NCI-TCGA
CPLANE1	Q9H799	p.Leu1351Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37187442A>C	NCI-TCGA
CPLANE1	Q9H799	p.Ile1352Val	rs146808769	missense variant	-	NC_000005.10:g.37187440T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1352Thr	rs759005825	missense variant	-	NC_000005.10:g.37187439A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1352Phe	rs146808769	missense variant	-	NC_000005.10:g.37187440T>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1353Arg	rs748709023	missense variant	-	NC_000005.10:g.37187437C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1354Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37187434C>G	NCI-TCGA
CPLANE1	Q9H799	p.Ile1358Val	rs1177512793	missense variant	-	NC_000005.10:g.37187422T>C	TOPMed
CPLANE1	Q9H799	p.Ile1358Met	rs145018253	missense variant	-	NC_000005.10:g.37187420G>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1360Met	COSM6103719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37187415T>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ala1362Val	rs780415009	missense variant	-	NC_000005.10:g.37186390G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1364Val	rs376146201	missense variant	-	NC_000005.10:g.37186385T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1366Met	rs781367784	missense variant	-	NC_000005.10:g.37186379C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1368Ser	COSM4915129	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37186373C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ala1368Thr	rs373443151	missense variant	-	NC_000005.10:g.37186373C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1368Val	rs1431507702	missense variant	-	NC_000005.10:g.37186372G>A	gnomAD
CPLANE1	Q9H799	p.Pro1370Ser	COSM3616003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37186367G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1373Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37186358C>A	NCI-TCGA
CPLANE1	Q9H799	p.Val1375Leu	rs546036802	missense variant	-	NC_000005.10:g.37186352C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1375Met	rs546036802	missense variant	-	NC_000005.10:g.37186352C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1377Phe	rs889635214	missense variant	-	NC_000005.10:g.37186346C>A	TOPMed
CPLANE1	Q9H799	p.Pro1378Ser	rs752467139	missense variant	-	NC_000005.10:g.37186343G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1379Val	COSM482795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37186340A>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg1380Lys	rs1425618127	missense variant	-	NC_000005.10:g.37186336C>T	gnomAD
CPLANE1	Q9H799	p.Lys1382Asn	rs776405287	missense variant	-	NC_000005.10:g.37186329T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr1383His	rs1239905562	missense variant	-	NC_000005.10:g.37186328A>G	gnomAD
CPLANE1	Q9H799	p.His1384Tyr	rs376548658	missense variant	-	NC_000005.10:g.37186325G>A	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1385Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37186321G>T	NCI-TCGA
CPLANE1	Q9H799	p.Leu1386Phe	rs769304117	missense variant	-	NC_000005.10:g.37186319G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1387Tyr	rs749760656	missense variant	-	NC_000005.10:g.37186316G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1388Glu	rs1339146627	missense variant	-	NC_000005.10:g.37186313G>C	TOPMed
CPLANE1	Q9H799	p.Gln1388Arg	rs1361328165	missense variant	-	NC_000005.10:g.37186312T>C	gnomAD
CPLANE1	Q9H799	p.Leu1390Val	rs780391877	missense variant	-	NC_000005.10:g.37186307G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1390His	rs1443368612	missense variant	-	NC_000005.10:g.37186306A>T	gnomAD
CPLANE1	Q9H799	p.Leu1390Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37186306A>C	NCI-TCGA
CPLANE1	Q9H799	p.His1392Gln	rs1325496229	missense variant	-	NC_000005.10:g.37186299G>C	gnomAD
CPLANE1	Q9H799	p.His1392Arg	rs753392667	missense variant	-	NC_000005.10:g.37186300T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1394Ala	rs113930638	missense variant	-	NC_000005.10:g.37186294A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1394Ile	rs770242030	missense variant	-	NC_000005.10:g.37186295C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1395Met	rs781459642	missense variant	-	NC_000005.10:g.37186292C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1395Leu	rs781459642	missense variant	-	NC_000005.10:g.37186292C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1397Arg	rs1454337663	missense variant	-	NC_000005.10:g.37186286C>T	gnomAD
CPLANE1	Q9H799	p.Gly1397Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37185079C>T	NCI-TCGA
CPLANE1	Q9H799	p.Pro1398Leu	rs1478531273	missense variant	-	NC_000005.10:g.37185076G>A	TOPMed
CPLANE1	Q9H799	p.Pro1398Ser	rs770196773	missense variant	-	NC_000005.10:g.37185077G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1400Ser	COSM272426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37185070G>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Met1404Ile	rs1371963347	missense variant	-	NC_000005.10:g.37185057C>T	TOPMed
CPLANE1	Q9H799	p.Val1406Asp	rs746246732	missense variant	-	NC_000005.10:g.37185052A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1407Ala	rs1478669127	missense variant	-	NC_000005.10:g.37185049A>G	TOPMed
CPLANE1	Q9H799	p.Met1408Val	rs538511134	missense variant	-	NC_000005.10:g.37185047T>C	1000Genomes
CPLANE1	Q9H799	p.His1409Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37185044G>A	NCI-TCGA
CPLANE1	Q9H799	p.Val1414Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37185029C>A	NCI-TCGA
CPLANE1	Q9H799	p.Val1416Met	rs376365094	missense variant	-	NC_000005.10:g.37185023C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1416Ala	rs1232354293	missense variant	-	NC_000005.10:g.37185022A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1418Thr	rs748175071	missense variant	-	NC_000005.10:g.37185017C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1418Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37185016G>A	NCI-TCGA
CPLANE1	Q9H799	p.Leu1419Gln	rs1390549177	missense variant	-	NC_000005.10:g.37185013A>T	gnomAD
CPLANE1	Q9H799	p.Arg1421Cys	rs778919269	missense variant	-	NC_000005.10:g.37185008G>A	NCI-TCGA
CPLANE1	Q9H799	p.Arg1421His	rs139594497	missense variant	-	NC_000005.10:g.37185007C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1421Cys	rs778919269	missense variant	-	NC_000005.10:g.37185008G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1423Lys	rs766231962	missense variant	-	NC_000005.10:g.37185002G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1423His	rs1317786727	missense variant	-	NC_000005.10:g.37185000C>G	TOPMed
CPLANE1	Q9H799	p.Arg1424Gly	rs1171271425	missense variant	-	NC_000005.10:g.37184999T>C	gnomAD
CPLANE1	Q9H799	p.Arg1424Ile	rs1454898277	missense variant	-	NC_000005.10:g.37184998C>A	gnomAD
CPLANE1	Q9H799	p.Asn1425His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37184996T>G	NCI-TCGA
CPLANE1	Q9H799	p.Ile1426Thr	RCV000625729	missense variant	Inborn genetic diseases	NC_000005.10:g.37184992A>G	ClinVar
CPLANE1	Q9H799	p.Ile1426Val	rs1363959972	missense variant	-	NC_000005.10:g.37184993T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1426Thr	rs1157940387	missense variant	-	NC_000005.10:g.37184992A>G	gnomAD
CPLANE1	Q9H799	p.Gly1427Ala	rs1282129143	missense variant	-	NC_000005.10:g.37184989C>G	gnomAD
CPLANE1	Q9H799	p.Ser1428Tyr	rs1418824450	missense variant	-	NC_000005.10:g.37184986G>T	gnomAD
CPLANE1	Q9H799	p.Phe1429Leu	rs755938936	missense variant	-	NC_000005.10:g.37184982A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1430Lys	COSM5553258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37184981C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Val1431Met	rs1276479001	missense variant	-	NC_000005.10:g.37184978C>T	TOPMed
CPLANE1	Q9H799	p.Asn1432Ser	rs1486318076	missense variant	-	NC_000005.10:g.37184974T>C	gnomAD
CPLANE1	Q9H799	p.Ile1433Thr	rs750146106	missense variant	-	NC_000005.10:g.37184971A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1433Met	rs1198738179	missense variant	-	NC_000005.10:g.37184970T>C	gnomAD
CPLANE1	Q9H799	p.Trp1434Arg	rs148552198	missense variant	-	NC_000005.10:g.37184969A>G	ESP,TOPMed
CPLANE1	Q9H799	p.Pro1436Ser	RCV000703873	missense variant	-	NC_000005.10:g.37184963G>A	ClinVar
CPLANE1	Q9H799	p.Pro1436Ser	rs183021118	missense variant	-	NC_000005.10:g.37184963G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1436Ser	RCV000366707	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37184963G>A	ClinVar
CPLANE1	Q9H799	p.Pro1436Ala	rs183021118	missense variant	-	NC_000005.10:g.37184963G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1437Thr	RCV000533691	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37184959A>G	ClinVar
CPLANE1	Q9H799	p.Ile1437Val	rs773668280	missense variant	-	NC_000005.10:g.37184960T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1437Thr	rs6859950	missense variant	-	NC_000005.10:g.37184959A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1437Thr	RCV000145364	missense variant	-	NC_000005.10:g.37184959A>G	ClinVar
CPLANE1	Q9H799	p.Glu1439Val	COSM420711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37184953T>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1439Ter	RCV000607941	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37184956del	ClinVar
CPLANE1	Q9H799	p.Glu1439Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37184954C>A	NCI-TCGA
CPLANE1	Q9H799	p.Glu1440Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37184949C>G	NCI-TCGA
CPLANE1	Q9H799	p.Lys1441Arg	rs372201329	missense variant	-	NC_000005.10:g.37184947T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1441IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37184947_37184948insGAAGAAAAAAGTAGGATAAA	NCI-TCGA
CPLANE1	Q9H799	p.Pro1442Ala	rs1201652001	missense variant	-	NC_000005.10:g.37184945G>C	TOPMed
CPLANE1	Q9H799	p.Pro1442Thr	rs1201652001	missense variant	-	NC_000005.10:g.37184945G>T	TOPMed
CPLANE1	Q9H799	p.Asp1443Asn	rs530026342	missense variant	-	NC_000005.10:g.37184942C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1444Gly	rs771334779	missense variant	-	NC_000005.10:g.37184938T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1445Ser	rs747364413	missense variant	-	NC_000005.10:g.37184936C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1447Arg	rs149365619	missense variant	-	NC_000005.10:g.37184930C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1448Gly	rs550561225	missense variant	-	NC_000005.10:g.37184926A>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1449Gly	rs778806312	missense variant	-	NC_000005.10:g.37184923T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1452Phe	rs138792462	missense variant	-	NC_000005.10:g.37184914G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1453Pro	rs1475744173	missense variant	-	NC_000005.10:g.37184911A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1453Gln	rs1475744173	missense variant	-	NC_000005.10:g.37184911A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1455Ter	RCV000778767	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37184910del	ClinVar
CPLANE1	Q9H799	p.Ser1456Thr	rs780113797	missense variant	-	NC_000005.10:g.37184902C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1459Thr	rs146075582	missense variant	-	NC_000005.10:g.37184893C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1460Thr	RCV000275097	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37184890C>G	ClinVar
CPLANE1	Q9H799	p.Ser1460Arg	rs1388538165	missense variant	-	NC_000005.10:g.37184891T>G	TOPMed
CPLANE1	Q9H799	p.Ser1460Thr	rs886060579	missense variant	-	NC_000005.10:g.37184890C>G	-
CPLANE1	Q9H799	p.Thr1463Ile	RCV000176587	missense variant	-	NC_000005.10:g.37184881G>A	ClinVar
CPLANE1	Q9H799	p.Thr1463Pro	rs767203223	missense variant	-	NC_000005.10:g.37184882T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1463Ala	rs767203223	missense variant	-	NC_000005.10:g.37184882T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1463Ile	rs202103224	missense variant	-	NC_000005.10:g.37184881G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1466Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37184873C>A	NCI-TCGA
CPLANE1	Q9H799	p.Asp1467Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37184870C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ser1468Tyr	COSM1437360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37184866G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser1468Cys	rs150556877	missense variant	-	NC_000005.10:g.37184866G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1468Cys	RCV000369776	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37184866G>C	ClinVar
CPLANE1	Q9H799	p.Val1470Phe	rs1326484626	missense variant	-	NC_000005.10:g.37184861C>A	gnomAD
CPLANE1	Q9H799	p.Ser1472Asn	rs754402532	missense variant	-	NC_000005.10:g.37184854C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1475Gly	rs766869139	missense variant	-	NC_000005.10:g.37184845T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1476Met	rs1396140286	missense variant	-	NC_000005.10:g.37184842G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1480Ser	rs1462251885	missense variant	-	NC_000005.10:g.37184831C>A	gnomAD
CPLANE1	Q9H799	p.Ser1482Pro	COSM5746399	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37184825A>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser1482Leu	rs973679173	missense variant	-	NC_000005.10:g.37184824G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1483Ala	rs772365742	missense variant	-	NC_000005.10:g.37184821A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1483Ala	rs772365742	missense variant	-	NC_000005.10:g.37184821A>G	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1485Ter	COSM1067800	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37184816C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1485Lys	rs1447744662	missense variant	-	NC_000005.10:g.37184816C>T	gnomAD
CPLANE1	Q9H799	p.Lys1486Asn	rs1194536301	missense variant	-	NC_000005.10:g.37184811T>A	gnomAD
CPLANE1	Q9H799	p.Lys1486Gln	rs1255065055	missense variant	-	NC_000005.10:g.37184813T>G	gnomAD
CPLANE1	Q9H799	p.Lys1486Gln	rs1255065055	missense variant	-	NC_000005.10:g.37184813T>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser1487Arg	rs1023003480	missense variant	-	NC_000005.10:g.37184808A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1487Asn	rs138157520	missense variant	-	NC_000005.10:g.37184809C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1487Asn	RCV000520136	missense variant	-	NC_000005.10:g.37184809C>T	ClinVar
CPLANE1	Q9H799	p.Ile1491Met	rs1197470926	missense variant	-	NC_000005.10:g.37184796G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1492Phe	rs895907055	missense variant	-	NC_000005.10:g.37184794T>A	TOPMed
CPLANE1	Q9H799	p.Tyr1492Cys	rs895907055	missense variant	-	NC_000005.10:g.37184794T>C	TOPMed
CPLANE1	Q9H799	p.Gln1493Leu	rs768663702	missense variant	-	NC_000005.10:g.37184791T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1494Ile	rs1369223522	missense variant	-	NC_000005.10:g.37184788C>A	TOPMed
CPLANE1	Q9H799	p.Ala1496Val	rs1249678741	missense variant	-	NC_000005.10:g.37183694G>A	gnomAD
CPLANE1	Q9H799	p.Asn1498Asp	rs1262307874	missense variant	-	NC_000005.10:g.37183689T>C	gnomAD
CPLANE1	Q9H799	p.Asn1498Asp	rs1262307874	missense variant	-	NC_000005.10:g.37183689T>C	NCI-TCGA
CPLANE1	Q9H799	p.His1499Arg	rs763128117	missense variant	-	NC_000005.10:g.37183685T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His1499Gln	rs377114029	missense variant	-	NC_000005.10:g.37183684G>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1500Arg	rs372881701	missense variant	-	NC_000005.10:g.37183682A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1500Val	rs925086607	missense variant	-	NC_000005.10:g.37183683T>C	TOPMed
CPLANE1	Q9H799	p.Met1500Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183682A>G	NCI-TCGA
CPLANE1	Q9H799	p.Met1500Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183681C>G	NCI-TCGA
CPLANE1	Q9H799	p.del1501Ter	rs1233100308	stop gained	-	NC_000005.10:g.37183680_37183681insTTTA	gnomAD
CPLANE1	Q9H799	p.Ile1505Val	rs745833276	missense variant	-	NC_000005.10:g.37183668T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1506Arg	RCV000625259	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183664T>C	ClinVar
CPLANE1	Q9H799	p.His1506Arg	rs141911199	missense variant	-	NC_000005.10:g.37183664T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1509Ala	rs1408591861	missense variant	-	NC_000005.10:g.37183656T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1510Glu	rs1219880926	missense variant	-	NC_000005.10:g.37183651A>T	gnomAD
CPLANE1	Q9H799	p.Arg1512Gly	COSM3855081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183647T>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg1512Lys	rs1377340492	missense variant	-	NC_000005.10:g.37183646C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys1515Tyr	rs746816991	missense variant	-	NC_000005.10:g.37183637C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1516Thr	rs1361363473	missense variant	-	NC_000005.10:g.37183634T>G	gnomAD
CPLANE1	Q9H799	p.Gln1517His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183630C>G	NCI-TCGA
CPLANE1	Q9H799	p.Gln1517Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183631T>G	NCI-TCGA
CPLANE1	Q9H799	p.Lys1518Glu	rs777297584	missense variant	-	NC_000005.10:g.37183629T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1518Arg	rs757990951	missense variant	-	NC_000005.10:g.37183628T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1519Lys	COSM1067798	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183626C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1519Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37183626C>A	NCI-TCGA
CPLANE1	Q9H799	p.Pro1521Leu	rs138874486	missense variant	-	NC_000005.10:g.37183619G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1522Ala	rs536420243	missense variant	-	NC_000005.10:g.37183617T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1526Tyr	rs1363054900	missense variant	-	NC_000005.10:g.37183605C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1528Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183599C>T	NCI-TCGA
CPLANE1	Q9H799	p.Lys1529Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183595T>G	NCI-TCGA
CPLANE1	Q9H799	p.Gln1532Arg	COSM3855079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183586T>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asn1533LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37183582_37183583insT	NCI-TCGA
CPLANE1	Q9H799	p.Thr1534Ile	rs757626213	missense variant	-	NC_000005.10:g.37183580G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1536His	COSM1328813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183574G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Val1537Ile	rs563406970	missense variant	-	NC_000005.10:g.37183572C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1539Asp	COSM3616001	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183565C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Val1540Phe	rs370310194	missense variant	-	NC_000005.10:g.37183563C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1545His	RCV000480065	missense variant	-	NC_000005.10:g.37183547C>T	ClinVar
CPLANE1	Q9H799	p.Arg1545His	rs765457523	missense variant	-	NC_000005.10:g.37183547C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1545Gly	rs775743007	missense variant	-	NC_000005.10:g.37183548G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1545Cys	rs775743007	missense variant	-	NC_000005.10:g.37183548G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1547Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183542C>T	NCI-TCGA
CPLANE1	Q9H799	p.Asp1548Ala	rs759649053	missense variant	-	NC_000005.10:g.37183538T>G	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp1548Gly	RCV000605589	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183538T>C	ClinVar
CPLANE1	Q9H799	p.Asp1548Gly	rs759649053	missense variant	-	NC_000005.10:g.37183538T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1548Ala	rs759649053	missense variant	-	NC_000005.10:g.37183538T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1551Val	rs544656011	missense variant	-	NC_000005.10:g.37183530T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1552Thr	rs1460832746	missense variant	-	NC_000005.10:g.37183526T>G	TOPMed
CPLANE1	Q9H799	p.Phe1553Leu	COSM3429425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183522G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Leu1554Arg	rs1156598682	missense variant	-	NC_000005.10:g.37183520A>C	gnomAD
CPLANE1	Q9H799	p.Leu1554Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183521G>T	NCI-TCGA
CPLANE1	Q9H799	p.Leu1558Val	rs1418423844	missense variant	-	NC_000005.10:g.37183509A>C	gnomAD
CPLANE1	Q9H799	p.Leu1558Ter	rs1298587616	stop gained	-	NC_000005.10:g.37183508A>T	TOPMed
CPLANE1	Q9H799	p.Ser1559Thr	rs746797181	missense variant	-	NC_000005.10:g.37183505C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr1560His	rs772945484	missense variant	-	NC_000005.10:g.37183503A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1562Ile	COSM1067796	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183497G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Leu1562Phe	rs1389387167	missense variant	-	NC_000005.10:g.37183497G>A	TOPMed
CPLANE1	Q9H799	p.Arg1564Thr	COSM3776675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183490C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp1565Tyr	rs1243394087	missense variant	-	NC_000005.10:g.37183488C>A	gnomAD
CPLANE1	Q9H799	p.Asp1565Val	rs1216051482	missense variant	-	NC_000005.10:g.37183487T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1567Arg	rs982993369	missense variant	-	NC_000005.10:g.37183481G>C	TOPMed
CPLANE1	Q9H799	p.Pro1567Ser	rs149158301	missense variant	-	NC_000005.10:g.37183482G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1570Thr	rs1294406868	missense variant	-	NC_000005.10:g.37183472C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1573Gly	rs148234583	missense variant	-	NC_000005.10:g.37183463T>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1573Val	rs148234583	missense variant	-	NC_000005.10:g.37183463T>A	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1574Val	rs1272066782	missense variant	-	NC_000005.10:g.37183461T>C	gnomAD
CPLANE1	Q9H799	p.Pro1575Ser	rs748824091	missense variant	-	NC_000005.10:g.37183458G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Phe1576Tyr	rs781552290	missense variant	-	NC_000005.10:g.37183454A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Phe1580Ser	rs1027538017	missense variant	-	NC_000005.10:g.37183442A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1580Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183442A>C	NCI-TCGA
CPLANE1	Q9H799	p.Ser1581Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183439G>A	NCI-TCGA
CPLANE1	Q9H799	p.Glu1586Gln	rs757722798	missense variant	-	NC_000005.10:g.37183425C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.His1587Arg	rs938918381	missense variant	-	NC_000005.10:g.37183421T>C	TOPMed
CPLANE1	Q9H799	p.Leu1589Phe	rs751890710	missense variant	-	NC_000005.10:g.37183416G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1589Phe	RCV000355011	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37183416G>A	ClinVar
CPLANE1	Q9H799	p.Phe1594Ser	rs758814412	missense variant	-	NC_000005.10:g.37183400A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1596Ala	rs1186525850	missense variant	-	NC_000005.10:g.37183394A>G	gnomAD
CPLANE1	Q9H799	p.Thr1598Lys	RCV000608649	missense variant	-	NC_000005.10:g.37183388G>T	ClinVar
CPLANE1	Q9H799	p.Thr1598Ala	rs1474802887	missense variant	-	NC_000005.10:g.37183389T>C	gnomAD
CPLANE1	Q9H799	p.Thr1598Lys	rs147588579	missense variant	-	NC_000005.10:g.37183388G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1598Arg	rs147588579	missense variant	-	NC_000005.10:g.37183388G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1599Ile	rs1470084982	missense variant	-	NC_000005.10:g.37183385G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1599Lys	rs1470084982	missense variant	-	NC_000005.10:g.37183385G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1600Ile	COSM3615999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183383A>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Lys1601Ter	rs946036827	stop gained	-	NC_000005.10:g.37183380T>A	gnomAD
CPLANE1	Q9H799	p.Lys1601Glu	rs946036827	missense variant	-	NC_000005.10:g.37183380T>C	gnomAD
CPLANE1	Q9H799	p.Arg1602Ter	RCV000024221	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183377G>A	ClinVar
CPLANE1	Q9H799	p.Arg1602Ter	rs367543063	stop gained	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37183377G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1602Gly	rs367543063	missense variant	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37183377G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1602Gln	rs199711701	missense variant	-	NC_000005.10:g.37183376C>T	gnomAD
CPLANE1	Q9H799	p.Arg1602Ter	rs367543063	stop gained	-	NC_000005.10:g.37183377G>A	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.His1603Arg	rs760625416	missense variant	-	NC_000005.10:g.37183373T>C	ExAC,TOPMed
CPLANE1	Q9H799	p.His1603Tyr	rs896453652	missense variant	-	NC_000005.10:g.37183374G>A	TOPMed
CPLANE1	Q9H799	p.Lys1606Gln	rs1215183879	missense variant	-	NC_000005.10:g.37183365T>G	gnomAD
CPLANE1	Q9H799	p.Lys1606Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183364T>G	NCI-TCGA
CPLANE1	Q9H799	p.Ser1609Asn	COSM3947487	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183355C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asn1611Lys	rs773106854	missense variant	-	NC_000005.10:g.37183348A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1611Asp	rs990191430	missense variant	-	NC_000005.10:g.37183350T>C	gnomAD
CPLANE1	Q9H799	p.Asn1611Ser	rs145059484	missense variant	-	NC_000005.10:g.37183349T>C	ESP
CPLANE1	Q9H799	p.Val1612Met	rs1366531602	missense variant	-	NC_000005.10:g.37183347C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1614Thr	rs771898985	missense variant	-	NC_000005.10:g.37183340C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1614Ser	rs747922408	missense variant	-	NC_000005.10:g.37183339T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1614Ile	rs771898985	missense variant	-	NC_000005.10:g.37183340C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1616Ala	rs1356148933	missense variant	-	NC_000005.10:g.37183334C>G	gnomAD
CPLANE1	Q9H799	p.Gly1616Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183334C>T	NCI-TCGA
CPLANE1	Q9H799	p.Phe1619Ser	rs1383270775	missense variant	-	NC_000005.10:g.37183325A>G	TOPMed
CPLANE1	Q9H799	p.Pro1623Leu	rs377517560	missense variant	-	NC_000005.10:g.37183313G>A	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr1626Cys	rs1394652636	missense variant	-	NC_000005.10:g.37183304T>C	gnomAD
CPLANE1	Q9H799	p.Glu1627Gly	rs768285147	missense variant	-	NC_000005.10:g.37183301T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1628Leu	COSM3615997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183298G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Lys1630Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183292T>G	NCI-TCGA
CPLANE1	Q9H799	p.Ser1631Leu	RCV000646705	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37183289G>A	ClinVar
CPLANE1	Q9H799	p.Ser1631Leu	RCV000434578	missense variant	-	NC_000005.10:g.37183289G>A	ClinVar
CPLANE1	Q9H799	p.Ser1631Ter	RCV000541702	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183295dup	ClinVar
CPLANE1	Q9H799	p.Ser1631Leu	rs748759724	missense variant	-	NC_000005.10:g.37183289G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1633Pro	rs1454490404	missense variant	-	NC_000005.10:g.37183284A>G	gnomAD
CPLANE1	Q9H799	p.Asn1635Lys	rs779567146	missense variant	-	NC_000005.10:g.37183276A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1636Gly	rs747558469	missense variant	-	NC_000005.10:g.37183274T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1636Val	rs747558469	missense variant	-	NC_000005.10:g.37183274T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1640Ile	rs753046703	missense variant	-	NC_000005.10:g.37183261C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1640Val	rs758900927	missense variant	-	NC_000005.10:g.37183263T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1643Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183254C>G	NCI-TCGA
CPLANE1	Q9H799	p.Asn1644His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183251T>G	NCI-TCGA
CPLANE1	Q9H799	p.Ser1649Leu	COSM737880	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183235G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser1650Pro	rs536461045	missense variant	-	NC_000005.10:g.37183233A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1650Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183232G>A	NCI-TCGA
CPLANE1	Q9H799	p.Gly1656Trp	rs1043977498	missense variant	-	NC_000005.10:g.37183215C>A	TOPMed
CPLANE1	Q9H799	p.Ile1657Met	rs767435113	missense variant	-	NC_000005.10:g.37183210G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1658Arg	rs761598092	missense variant	-	NC_000005.10:g.37183208T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1658Ile	rs761598092	missense variant	-	NC_000005.10:g.37183208T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1660Ser	rs774071769	missense variant	-	NC_000005.10:g.37183202A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1661Ter	rs768213967	stop gained	-	NC_000005.10:g.37183199A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1661PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37183198_37183199insA	NCI-TCGA
CPLANE1	Q9H799	p.Gln1662His	rs547409263	missense variant	-	NC_000005.10:g.37183195T>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1662His	RCV000625257	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183195T>G	ClinVar
CPLANE1	Q9H799	p.Pro1664Ser	rs538648700	missense variant	-	NC_000005.10:g.37183191G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1665Leu	rs745368500	missense variant	-	NC_000005.10:g.37183187G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1666Ile	rs748543409	missense variant	-	NC_000005.10:g.37183184T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn1666Ile	RCV000503146	missense variant	-	NC_000005.10:g.37183184T>A	ClinVar
CPLANE1	Q9H799	p.Glu1667Asp	rs779294280	missense variant	-	NC_000005.10:g.37183180T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn1669Asp	rs1436271226	missense variant	-	NC_000005.10:g.37183176T>C	TOPMed
CPLANE1	Q9H799	p.Lys1670Glu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183173T>C	NCI-TCGA
CPLANE1	Q9H799	p.Met1674Val	rs1034500146	missense variant	-	NC_000005.10:g.37183161T>C	TOPMed
CPLANE1	Q9H799	p.Met1674Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183159C>A	NCI-TCGA
CPLANE1	Q9H799	p.Gly1676Glu	rs1360544370	missense variant	-	NC_000005.10:g.37183154C>T	TOPMed
CPLANE1	Q9H799	p.Leu1677Ile	rs1483052986	missense variant	-	NC_000005.10:g.37183152A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1678Tyr	rs1304704416	missense variant	-	NC_000005.10:g.37183148A>T	TOPMed
CPLANE1	Q9H799	p.Gly1679Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183146C>T	NCI-TCGA
CPLANE1	Q9H799	p.Lys1681Arg	rs1213044055	missense variant	-	NC_000005.10:g.37183139T>C	gnomAD
CPLANE1	Q9H799	p.Gln1682His	rs780129645	missense variant	-	NC_000005.10:g.37183135T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1684Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183131A>G	NCI-TCGA
CPLANE1	Q9H799	p.Ile1685Thr	RCV000405142	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37183127A>G	ClinVar
CPLANE1	Q9H799	p.Ile1685Val	rs756287700	missense variant	-	NC_000005.10:g.37183128T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1685Thr	rs750439635	missense variant	-	NC_000005.10:g.37183127A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1687Asn	COSM6103721	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183120T>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Lys1687Thr	rs767457866	missense variant	-	NC_000005.10:g.37183121T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1687Arg	rs767457866	missense variant	-	NC_000005.10:g.37183121T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1689Arg	rs761691903	missense variant	-	NC_000005.10:g.37183115T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1690Val	rs751387885	missense variant	-	NC_000005.10:g.37183112T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1691Glu	rs763990143	missense variant	-	NC_000005.10:g.37183108G>C	ExAC
CPLANE1	Q9H799	p.Asp1691Gly	rs1348488187	missense variant	-	NC_000005.10:g.37183109T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1691Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183110C>T	NCI-TCGA
CPLANE1	Q9H799	p.Arg1693Ile	COSM1437352	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183103C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg1693Gly	rs1317619046	missense variant	-	NC_000005.10:g.37183104T>C	TOPMed
CPLANE1	Q9H799	p.Glu1694Asp	rs1295074686	missense variant	-	NC_000005.10:g.37183099C>A	gnomAD
CPLANE1	Q9H799	p.Cys1696Trp	rs139362705	missense variant	-	NC_000005.10:g.37183093A>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1697Pro	COSM6103723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183091A>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln1699Arg	rs571578015	missense variant	-	NC_000005.10:g.37183085T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1700Ile	rs190100945	missense variant	-	NC_000005.10:g.37183082C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1702Ala	COSM6103725	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183077A>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser1702Pro	rs951746547	missense variant	-	NC_000005.10:g.37183077A>G	TOPMed
CPLANE1	Q9H799	p.Ile1705Thr	rs1160277331	missense variant	-	NC_000005.10:g.37183067A>G	gnomAD
CPLANE1	Q9H799	p.Ile1705Val	rs1484885661	missense variant	-	NC_000005.10:g.37183068T>C	TOPMed
CPLANE1	Q9H799	p.Phe1706Val	rs776230016	missense variant	-	NC_000005.10:g.37183065A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Trp1707GlyPheSerTerUnkUnk	COSM4611827	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37183062A>-	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro1709Thr	rs1187847396	missense variant	-	NC_000005.10:g.37183056G>T	TOPMed
CPLANE1	Q9H799	p.Lys1710Gln	rs1253397526	missense variant	-	NC_000005.10:g.37183053T>G	TOPMed
CPLANE1	Q9H799	p.Lys1710Arg	rs150888119	missense variant	-	NC_000005.10:g.37183052T>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1711Cys	rs1455372537	missense variant	-	NC_000005.10:g.37183049G>C	TOPMed
CPLANE1	Q9H799	p.Ile1712Val	rs748701119	missense variant	-	NC_000005.10:g.37183047T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1712Leu	rs748701119	missense variant	-	NC_000005.10:g.37183047T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1712Thr	rs1343049469	missense variant	-	NC_000005.10:g.37183046A>G	gnomAD
CPLANE1	Q9H799	p.Thr1714Ile	rs1424442518	missense variant	-	NC_000005.10:g.37183040G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1716Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37183034C>A	NCI-TCGA
CPLANE1	Q9H799	p.Cys1717Tyr	rs765017990	missense variant	-	NC_000005.10:g.37183031C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1718Val	rs886060578	missense variant	-	NC_000005.10:g.37183029T>C	gnomAD
CPLANE1	Q9H799	p.Ile1718Val	RCV000340288	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37183029T>C	ClinVar
CPLANE1	Q9H799	p.Phe1719Leu	COSM4834413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37183024G>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln1723Ter	rs769127057	stop gained	-	NC_000005.10:g.37183014G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1723Ter	rs769127057	stop gained	-	NC_000005.10:g.37183014G>A	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp1726Glu	rs1269017314	missense variant	-	NC_000005.10:g.37183003A>C	gnomAD
CPLANE1	Q9H799	p.Ile1727Leu	rs1457243252	missense variant	-	NC_000005.10:g.37183002T>G	TOPMed
CPLANE1	Q9H799	p.Ile1727Thr	rs749614170	missense variant	-	NC_000005.10:g.37183001A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1730Ter	rs1274935542	stop gained	-	NC_000005.10:g.37182993G>A	gnomAD
CPLANE1	Q9H799	p.Glu1731Ter	COSM3855075	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37182990C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1731Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37182990C>T	NCI-TCGA
CPLANE1	Q9H799	p.Asp1732Tyr	rs1339350744	missense variant	-	NC_000005.10:g.37182987C>A	gnomAD
CPLANE1	Q9H799	p.Asp1732Gly	rs756274300	missense variant	-	NC_000005.10:g.37182986T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1733Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37182984G>C	NCI-TCGA
CPLANE1	Q9H799	p.Pro1734Ser	rs1439099143	missense variant	-	NC_000005.10:g.37182981G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro1734Leu	rs1383417627	missense variant	-	NC_000005.10:g.37182980G>A	gnomAD
CPLANE1	Q9H799	p.Pro1734Ser	rs1439099143	missense variant	-	NC_000005.10:g.37182981G>A	TOPMed
CPLANE1	Q9H799	p.Pro1734His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37182980G>T	NCI-TCGA
CPLANE1	Q9H799	p.Leu1735Phe	rs1319499094	missense variant	-	NC_000005.10:g.37182976T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1735Val	rs369286097	missense variant	-	NC_000005.10:g.37182978A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1737Pro	rs781211084	missense variant	-	NC_000005.10:g.37182971A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1738Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37182968T>C	NCI-TCGA
CPLANE1	Q9H799	p.Thr1739Ile	rs1386961278	missense variant	-	NC_000005.10:g.37182965G>A	gnomAD
CPLANE1	Q9H799	p.Phe1740Ser	rs1023681472	missense variant	-	NC_000005.10:g.37182962A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1742Cys	rs1208042566	missense variant	-	NC_000005.10:g.37182957T>A	TOPMed
CPLANE1	Q9H799	p.Gly1744Val	rs757297839	missense variant	-	NC_000005.10:g.37182950C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1745Gly	rs1469672651	missense variant	-	NC_000005.10:g.37182948T>C	TOPMed
CPLANE1	Q9H799	p.Arg1745Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37182947C>A	NCI-TCGA
CPLANE1	Q9H799	p.Met1750Leu	rs1013602304	missense variant	-	NC_000005.10:g.37182933T>G	TOPMed
CPLANE1	Q9H799	p.Arg1752Lys	rs763933855	missense variant	-	NC_000005.10:g.37182926C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1752Met	rs763933855	missense variant	-	NC_000005.10:g.37182926C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Trp1753Ter	rs758217149	stop gained	-	NC_000005.10:g.37182922C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn1755Asp	rs142400753	missense variant	-	NC_000005.10:g.37182918T>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Asn1755His	rs142400753	missense variant	-	NC_000005.10:g.37182918T>G	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1756Gly	rs764962678	missense variant	-	NC_000005.10:g.37182915T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1757Ser	rs760244058	missense variant	-	NC_000005.10:g.37182910C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1757Lys	rs776388467	missense variant	-	NC_000005.10:g.37182911C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys1760Arg	rs1355472894	missense variant	-	NC_000005.10:g.37182903A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1761Asn	rs770320173	missense variant	-	NC_000005.10:g.37182900C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1761Asn	rs770320173	missense variant	-	NC_000005.10:g.37182900C>T	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp1761Glu	rs1030990221	missense variant	-	NC_000005.10:g.37182898A>C	TOPMed
CPLANE1	Q9H799	p.Ser1762Phe	rs1342293975	missense variant	-	NC_000005.10:g.37182896G>A	gnomAD
CPLANE1	Q9H799	p.Ile1764Lys	rs140092205	missense variant	-	NC_000005.10:g.37182890A>T	ESP,TOPMed
CPLANE1	Q9H799	p.Ile1764Val	rs768980663	missense variant	-	NC_000005.10:g.37182891T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1765Ser	rs1471946440	missense variant	-	NC_000005.10:g.37182887G>C	TOPMed
CPLANE1	Q9H799	p.Glu1766Gly	rs1432514420	missense variant	-	NC_000005.10:g.37182884T>C	gnomAD
CPLANE1	Q9H799	p.Ser1768Pro	rs1363455365	missense variant	-	NC_000005.10:g.37182879A>G	gnomAD
CPLANE1	Q9H799	p.Ser1768Phe	rs1328427760	missense variant	-	NC_000005.10:g.37182878G>A	gnomAD
CPLANE1	Q9H799	p.Ser1769Phe	rs1387719071	missense variant	-	NC_000005.10:g.37182875G>A	gnomAD
CPLANE1	Q9H799	p.Glu1770Gln	rs1166315820	missense variant	-	NC_000005.10:g.37182873C>G	TOPMed
CPLANE1	Q9H799	p.Tyr1771His	RCV000304154	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37182870A>G	ClinVar
CPLANE1	Q9H799	p.Tyr1771His	rs748355456	missense variant	-	NC_000005.10:g.37182870A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1772Gly	rs79377186	missense variant	-	NC_000005.10:g.37182867T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1772Gly	RCV000406006	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37182867T>C	ClinVar
CPLANE1	Q9H799	p.Pro1773Ala	rs374839549	missense variant	-	NC_000005.10:g.37182864G>C	ESP
CPLANE1	Q9H799	p.Ile1775Asn	rs996420456	missense variant	-	NC_000005.10:g.37182857A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1776His	rs757385488	missense variant	-	NC_000005.10:g.37182854C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1776Cys	rs373075185	missense variant	-	NC_000005.10:g.37182855G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1777Ile	RCV000343798	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37182852C>T	ClinVar
CPLANE1	Q9H799	p.Val1777Ile	rs142777778	missense variant	-	NC_000005.10:g.37182852C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1777Leu	rs142777778	missense variant	-	NC_000005.10:g.37182852C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1781Ala	rs758218745	missense variant	-	NC_000005.10:g.37182840T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1782Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37182837C>T	NCI-TCGA
CPLANE1	Q9H799	p.Ala1782Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37182837C>G	NCI-TCGA
CPLANE1	Q9H799	p.Ala1782Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37182836G>C	NCI-TCGA
CPLANE1	Q9H799	p.Ala1783Asp	RCV000611750	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37182833G>T	ClinVar
CPLANE1	Q9H799	p.Ala1783Asp	rs200444162	missense variant	-	NC_000005.10:g.37182833G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1787Pro	rs753598424	missense variant	-	NC_000005.10:g.37182822A>G	ExAC
CPLANE1	Q9H799	p.Leu1788Ser	rs1225726550	missense variant	-	NC_000005.10:g.37182818A>G	gnomAD
CPLANE1	Q9H799	p.Trp1789Ter	rs1288967589	stop gained	-	NC_000005.10:g.37182815C>T	TOPMed
CPLANE1	Q9H799	p.Leu1791Phe	rs77286946	missense variant	-	NC_000005.10:g.37182808C>A	ExAC,TOPMed
CPLANE1	Q9H799	p.Leu1791Phe	rs77286946	missense variant	-	NC_000005.10:g.37182808C>G	ExAC,TOPMed
CPLANE1	Q9H799	p.Glu1792Lys	COSM3429423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37182807C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1792Asp	rs374631246	missense variant	-	NC_000005.10:g.37182805T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1793Glu	rs1234365745	missense variant	-	NC_000005.10:g.37182804G>C	gnomAD
CPLANE1	Q9H799	p.Pro1794Leu	RCV000614286	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37182800G>A	ClinVar
CPLANE1	Q9H799	p.Pro1794Leu	rs75589774	missense variant	-	NC_000005.10:g.37182800G>A	UniProt,dbSNP
CPLANE1	Q9H799	p.Pro1794Leu	VAR_068166	missense variant	-	NC_000005.10:g.37182800G>A	UniProt
CPLANE1	Q9H799	p.Pro1794Leu	rs75589774	missense variant	-	NC_000005.10:g.37182800G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1794Leu	RCV000145368	missense variant	-	NC_000005.10:g.37182800G>A	ClinVar
CPLANE1	Q9H799	p.Tyr1795Cys	rs776036175	missense variant	-	NC_000005.10:g.37182797T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1798Lys	rs1371238390	missense variant	-	NC_000005.10:g.37182788G>T	gnomAD
CPLANE1	Q9H799	p.Tyr1799Ter	RCV000523595	nonsense	-	NC_000005.10:g.37182784A>C	ClinVar
CPLANE1	Q9H799	p.Tyr1799His	rs1307424292	missense variant	-	NC_000005.10:g.37182786A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1799Cys	rs1427918719	missense variant	-	NC_000005.10:g.37182785T>C	gnomAD
CPLANE1	Q9H799	p.Tyr1799Asn	rs1307424292	missense variant	-	NC_000005.10:g.37182786A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1799Ter	rs759881074	stop gained	-	NC_000005.10:g.37182784A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1799Ter	rs759881074	stop gained	-	NC_000005.10:g.37182784A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1801Glu	rs1375771598	missense variant	-	NC_000005.10:g.37182779G>T	gnomAD
CPLANE1	Q9H799	p.Ala1801Thr	rs547946112	missense variant	-	NC_000005.10:g.37182780C>T	gnomAD
CPLANE1	Q9H799	p.Asn1803MetPheSerTerUnk	COSM4746995	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37182773T>-	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ala1804Ser	rs181490574	missense variant	-	NC_000005.10:g.37182771C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1804Ter	RCV000778766	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37182764_37182768del	ClinVar
CPLANE1	Q9H799	p.Ala1804Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37182770G>A	NCI-TCGA
CPLANE1	Q9H799	p.Ile1806Ser	rs907377828	missense variant	-	NC_000005.10:g.37182764A>C	gnomAD
CPLANE1	Q9H799	p.Ile1806Val	rs1472917516	missense variant	-	NC_000005.10:g.37182765T>C	gnomAD
CPLANE1	Q9H799	p.Val1809Leu	rs563861036	missense variant	-	NC_000005.10:g.37181002C>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1812Leu	rs545562838	missense variant	-	NC_000005.10:g.37180992C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1812Ser	rs376821475	missense variant	-	NC_000005.10:g.37180993G>T	ESP,TOPMed
CPLANE1	Q9H799	p.Arg1812Cys	rs376821475	missense variant	-	NC_000005.10:g.37180993G>A	ESP,TOPMed
CPLANE1	Q9H799	p.Arg1812His	rs545562838	missense variant	-	NC_000005.10:g.37180992C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1813Gly	rs771172998	missense variant	-	NC_000005.10:g.37180989T>C	ExAC
CPLANE1	Q9H799	p.Thr1814Ala	RCV000646710	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37180987T>C	ClinVar
CPLANE1	Q9H799	p.Thr1814Ala	rs760844546	missense variant	-	NC_000005.10:g.37180987T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1815Trp	COSM1437350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180984C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gly1815Arg	rs1009339676	missense variant	-	NC_000005.10:g.37180984C>G	TOPMed
CPLANE1	Q9H799	p.Cys1816Tyr	rs138639220	missense variant	-	NC_000005.10:g.37180980C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1817Glu	rs772099372	missense variant	-	NC_000005.10:g.37180978G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1820Ser	rs1381413361	missense variant	-	NC_000005.10:g.37180969G>A	gnomAD
CPLANE1	Q9H799	p.Asn1821Ser	rs748251473	missense variant	-	NC_000005.10:g.37180965T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1822Val	rs1447400188	missense variant	-	NC_000005.10:g.37180963T>C	gnomAD
CPLANE1	Q9H799	p.Glu1823Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37180960C>A	NCI-TCGA
CPLANE1	Q9H799	p.Arg1824Lys	rs559787397	missense variant	-	NC_000005.10:g.37180956C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1825Asp	rs150153090	missense variant	-	NC_000005.10:g.37180952C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1826Gly	rs1457541096	missense variant	-	NC_000005.10:g.37180951T>C	gnomAD
CPLANE1	Q9H799	p.Lys1827Arg	rs749120835	missense variant	-	NC_000005.10:g.37180947T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1832Cys	rs755908877	missense variant	-	NC_000005.10:g.37180933C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1834Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37180927C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ala1835Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37180924C>T	NCI-TCGA
CPLANE1	Q9H799	p.Val1836Ile	COSM3994302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180921C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ala1837Pro	rs1202045583	missense variant	-	NC_000005.10:g.37180918C>G	TOPMed
CPLANE1	Q9H799	p.Ala1837Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37180918C>T	NCI-TCGA
CPLANE1	Q9H799	p.Thr1838Ala	RCV000145370	missense variant	-	NC_000005.10:g.37180915T>C	ClinVar
CPLANE1	Q9H799	p.Thr1838Ala	RCV000528336	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37180915T>C	ClinVar
CPLANE1	Q9H799	p.Thr1838Ala	rs76245173	missense variant	-	NC_000005.10:g.37180915T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1839Leu	COSM3615991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180911G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro1839Ser	rs888749024	missense variant	-	NC_000005.10:g.37180912G>A	TOPMed
CPLANE1	Q9H799	p.Gly1841Glu	rs1471535536	missense variant	-	NC_000005.10:g.37180905C>T	gnomAD
CPLANE1	Q9H799	p.Glu1843Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37180900C>T	NCI-TCGA
CPLANE1	Q9H799	p.Glu1844Lys	rs765373927	missense variant	-	NC_000005.10:g.37180897C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1844Asp	rs184096663	missense variant	-	NC_000005.10:g.37180895T>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1845Lys	COSM3828029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180893C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg1845Gly	rs555768951	missense variant	-	NC_000005.10:g.37180894T>C	1000Genomes
CPLANE1	Q9H799	p.Arg1845Ile	rs1247860468	missense variant	-	NC_000005.10:g.37180893C>A	gnomAD
CPLANE1	Q9H799	p.Gly1847Ser	rs1323962263	missense variant	-	NC_000005.10:g.37180888C>T	gnomAD
CPLANE1	Q9H799	p.Gln1848Ter	COSM6103727	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37180885G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser1851Pro	rs200795256	missense variant	-	NC_000005.10:g.37180876A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys1852Gly	rs191940879	missense variant	-	NC_000005.10:g.37180873A>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1853Lys	rs766699868	missense variant	-	NC_000005.10:g.37180870G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1853Ter	rs766699868	stop gained	-	NC_000005.10:g.37180870G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1855Met	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37180862G>C	NCI-TCGA
CPLANE1	Q9H799	p.Pro1860Thr	rs1272777983	missense variant	-	NC_000005.10:g.37180176G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1860Leu	rs368751039	missense variant	-	NC_000005.10:g.37180175G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1861Ala	COSM265671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180173T>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asn1865His	rs199524299	missense variant	-	NC_000005.10:g.37180161T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1865His	RCV000386853	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37180161T>G	ClinVar
CPLANE1	Q9H799	p.Asn1865His	RCV000424907	missense variant	-	NC_000005.10:g.37180161T>G	ClinVar
CPLANE1	Q9H799	p.Asn1865LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37180159_37180160insT	NCI-TCGA
CPLANE1	Q9H799	p.Asn1865IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37180160T>-	NCI-TCGA
CPLANE1	Q9H799	p.Asp1867Asn	rs1426379215	missense variant	-	NC_000005.10:g.37180155C>T	gnomAD
CPLANE1	Q9H799	p.Asp1867Gly	rs963676463	missense variant	-	NC_000005.10:g.37180154T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1867Glu	rs976028353	missense variant	-	NC_000005.10:g.37180153A>T	gnomAD
CPLANE1	Q9H799	p.Ile1868Thr	rs762090006	missense variant	-	NC_000005.10:g.37180151A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1868Lys	rs762090006	missense variant	-	NC_000005.10:g.37180151A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1868Met	rs774687609	missense variant	-	NC_000005.10:g.37180150T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1870Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37180146C>A	NCI-TCGA
CPLANE1	Q9H799	p.Asn1872Ser	rs765842074	missense variant	-	NC_000005.10:g.37180139T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1873Gly	rs763113716	missense variant	-	NC_000005.10:g.37180136T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1874Gly	rs1312543279	missense variant	-	NC_000005.10:g.37180133T>C	gnomAD
CPLANE1	Q9H799	p.Asp1874Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37180134C>T	NCI-TCGA
CPLANE1	Q9H799	p.Ile1875Val	rs769707371	missense variant	-	NC_000005.10:g.37180131T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1878Thr	rs745671752	missense variant	-	NC_000005.10:g.37180121A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1878Ser	rs745671752	missense variant	-	NC_000005.10:g.37180121A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His1880Arg	rs776446341	missense variant	-	NC_000005.10:g.37180115T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1880Tyr	rs1014600963	missense variant	-	NC_000005.10:g.37180116G>A	TOPMed
CPLANE1	Q9H799	p.Asn1881Ser	rs770680472	missense variant	-	NC_000005.10:g.37180112T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1882Ser	rs1269176064	missense variant	-	NC_000005.10:g.37180109G>C	TOPMed
CPLANE1	Q9H799	p.Lys1883Thr	COSM1067788	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180106T>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Lys1884Thr	rs373865796	missense variant	-	NC_000005.10:g.37180103T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1884Arg	rs373865796	missense variant	-	NC_000005.10:g.37180103T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1884Thr	RCV000419345	missense variant	-	NC_000005.10:g.37180103T>G	ClinVar
CPLANE1	Q9H799	p.Glu1885Ter	rs757968306	stop gained	-	NC_000005.10:g.37180101C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1885AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37180102T>-	NCI-TCGA
CPLANE1	Q9H799	p.Ile1887Val	rs747586143	missense variant	-	NC_000005.10:g.37180095T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1888Gly	rs780435133	missense variant	-	NC_000005.10:g.37180091T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1889Thr	rs1245054488	missense variant	-	NC_000005.10:g.37180088A>G	TOPMed
CPLANE1	Q9H799	p.Ile1889Ter	RCV000513749	frameshift	-	NC_000005.10:g.37180086_37180087del	ClinVar
CPLANE1	Q9H799	p.Glu1891Asp	rs1183585651	missense variant	-	NC_000005.10:g.37180081C>A	gnomAD
CPLANE1	Q9H799	p.Glu1891Lys	rs750789109	missense variant	-	NC_000005.10:g.37180083C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1895Gln	rs767967950	missense variant	-	NC_000005.10:g.37180071C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1896Ala	COSM1328815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37180067A>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1897Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37180065C>G	NCI-TCGA
CPLANE1	Q9H799	p.Ala1898Thr	rs751889936	missense variant	-	NC_000005.10:g.37180062C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1901Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37180053C>G	NCI-TCGA
CPLANE1	Q9H799	p.Glu1902Lys	rs763129992	missense variant	-	NC_000005.10:g.37180050C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1902AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37180048_37180049insA	NCI-TCGA
CPLANE1	Q9H799	p.Met1904Ile	rs752765729	missense variant	-	NC_000005.10:g.37180042C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His1907Asp	rs765117763	missense variant	-	NC_000005.10:g.37180035G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1908Val	rs1314342926	missense variant	-	NC_000005.10:g.37180032T>C	gnomAD
CPLANE1	Q9H799	p.Asp1910Ala	rs759558910	missense variant	-	NC_000005.10:g.37180025T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1911Ter	RCV000599682	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37180021A>C	ClinVar
CPLANE1	Q9H799	p.Tyr1911Ser	rs776408370	missense variant	-	NC_000005.10:g.37180022T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1911Ter	rs770770257	stop gained	-	NC_000005.10:g.37180021A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1912Lys	rs1450956266	missense variant	-	NC_000005.10:g.37180020C>T	gnomAD
CPLANE1	Q9H799	p.Glu1912Asp	rs536851859	missense variant	-	NC_000005.10:g.37180018T>G	gnomAD
CPLANE1	Q9H799	p.Glu1913Asp	rs1391007663	missense variant	-	NC_000005.10:g.37179442T>G	gnomAD
CPLANE1	Q9H799	p.Ile1915Thr	rs753876890	missense variant	-	NC_000005.10:g.37179437A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1917Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37179432C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ser1918Tyr	COSM3920002	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37179428G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Val1919Phe	rs766234915	missense variant	-	NC_000005.10:g.37179426C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1920Glu	rs760471892	missense variant	-	NC_000005.10:g.37179422C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1921Asp	rs1288877583	missense variant	-	NC_000005.10:g.37179419C>T	gnomAD
CPLANE1	Q9H799	p.Phe1922Leu	rs772939079	missense variant	-	NC_000005.10:g.37179415G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1925Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37179408G>A	NCI-TCGA
CPLANE1	Q9H799	p.Ser1926Thr	rs1227202519	missense variant	-	NC_000005.10:g.37179404C>G	gnomAD
CPLANE1	Q9H799	p.Ser1926Gly	rs773856220	missense variant	-	NC_000005.10:g.37179405T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1926Arg	rs773856220	missense variant	-	NC_000005.10:g.37179405T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1928Val	rs190242054	missense variant	-	NC_000005.10:g.37179398G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1928Gly	rs190242054	missense variant	-	NC_000005.10:g.37179398G>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1929Val	rs1273330212	missense variant	-	NC_000005.10:g.37179396T>C	gnomAD
CPLANE1	Q9H799	p.Met1932Lys	rs1304077388	missense variant	-	NC_000005.10:g.37179386A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1932Arg	rs1304077388	missense variant	-	NC_000005.10:g.37179386A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1933Ala	rs1387791746	missense variant	-	NC_000005.10:g.37179384T>C	gnomAD
CPLANE1	Q9H799	p.Gln1937Ter	rs1225604508	stop gained	-	NC_000005.10:g.37179372G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1938Val	COSM3855073	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37179369A>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu1941Asp	rs1427163113	missense variant	-	NC_000005.10:g.37177698C>A	gnomAD
CPLANE1	Q9H799	p.Thr1943Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37177693G>A	NCI-TCGA
CPLANE1	Q9H799	p.Glu1945Ter	rs761502897	stop gained	-	NC_000005.10:g.37177688C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1947Arg	rs774121501	missense variant	-	NC_000005.10:g.37177681T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1951Gly	rs1443849694	missense variant	-	NC_000005.10:g.37177669T>C	gnomAD
CPLANE1	Q9H799	p.Glu1955Gln	rs1042774343	missense variant	-	NC_000005.10:g.37177658C>G	TOPMed
CPLANE1	Q9H799	p.Thr1956Lys	rs1323231145	missense variant	-	NC_000005.10:g.37177654G>T	gnomAD
CPLANE1	Q9H799	p.Thr1956Ala	rs373199163	missense variant	-	NC_000005.10:g.37177655T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1959Gly	rs1230715850	missense variant	-	NC_000005.10:g.37177645T>C	gnomAD
CPLANE1	Q9H799	p.Lys1961Asn	rs370359867	missense variant	-	NC_000005.10:g.37177638T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1962Trp	rs768454790	missense variant	-	NC_000005.10:g.37177636G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1962Leu	rs768454790	missense variant	-	NC_000005.10:g.37177636G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1962IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37177637_37177638insT	NCI-TCGA
CPLANE1	Q9H799	p.Lys1966Glu	rs1472642121	missense variant	-	NC_000005.10:g.37177625T>C	gnomAD
CPLANE1	Q9H799	p.Lys1966Asn	rs1342538441	missense variant	-	NC_000005.10:g.37177623T>G	gnomAD
CPLANE1	Q9H799	p.Gly1967Ser	rs538462107	missense variant	-	NC_000005.10:g.37177622C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1967Asp	rs138049045	missense variant	-	NC_000005.10:g.37177621C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1967Ala	rs138049045	missense variant	-	NC_000005.10:g.37177621C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1968Val	rs756257858	missense variant	-	NC_000005.10:g.37175985T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1970Lys	rs1391071475	missense variant	-	NC_000005.10:g.37175979C>T	TOPMed
CPLANE1	Q9H799	p.Gly1976Arg	rs745881887	missense variant	-	NC_000005.10:g.37175961C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1977Gln	rs757095260	missense variant	-	NC_000005.10:g.37175956A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1978Ile	rs751402710	missense variant	-	NC_000005.10:g.37175954G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1978Ala	rs1453413994	missense variant	-	NC_000005.10:g.37175955T>C	gnomAD
CPLANE1	Q9H799	p.Thr1979Ile	rs777476825	missense variant	-	NC_000005.10:g.37175951G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1980Ser	rs758252905	missense variant	-	NC_000005.10:g.37175949G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1980Leu	rs752464418	missense variant	-	NC_000005.10:g.37175948G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1981Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37175946G>A	NCI-TCGA
CPLANE1	Q9H799	p.Met1983Val	rs1268361160	missense variant	-	NC_000005.10:g.37175940T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1983Leu	rs1268361160	missense variant	-	NC_000005.10:g.37175940T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1983Ile	rs764916230	missense variant	-	NC_000005.10:g.37175938C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1984Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37175937G>A	NCI-TCGA
CPLANE1	Q9H799	p.Asp1986His	rs753346671	missense variant	-	NC_000005.10:g.37175931C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1986Val	rs762263576	missense variant	-	NC_000005.10:g.37175930T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1986Gly	rs762263576	missense variant	-	NC_000005.10:g.37175930T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1987Arg	rs141126113	missense variant	-	NC_000005.10:g.37175927G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1987Met	rs141126113	missense variant	-	NC_000005.10:g.37175927G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1988Asn	rs1185288449	missense variant	-	NC_000005.10:g.37175924C>T	gnomAD
CPLANE1	Q9H799	p.Ser1989Leu	rs775696760	missense variant	-	NC_000005.10:g.37175921G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1990Lys	rs769946295	missense variant	-	NC_000005.10:g.37175919C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1991Met	rs1198846058	missense variant	-	NC_000005.10:g.37175914A>C	gnomAD
CPLANE1	Q9H799	p.Gln1995His	rs759795293	missense variant	-	NC_000005.10:g.37173941C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1995His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37173941C>A	NCI-TCGA
CPLANE1	Q9H799	p.Gln1995LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37173942_37173943insACACATA	NCI-TCGA
CPLANE1	Q9H799	p.Ile1996Leu	rs1237016436	missense variant	-	NC_000005.10:g.37173940T>G	TOPMed
CPLANE1	Q9H799	p.Ile1996Thr	rs1278588680	missense variant	-	NC_000005.10:g.37173939A>G	TOPMed
CPLANE1	Q9H799	p.Tyr1999Asn	rs747044097	missense variant	-	NC_000005.10:g.37173931A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2003Phe	rs1445358492	missense variant	-	NC_000005.10:g.37173918G>A	TOPMed
CPLANE1	Q9H799	p.Ile2010Met	rs747983398	missense variant	-	NC_000005.10:g.37173896T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2011Leu	rs1175326205	missense variant	-	NC_000005.10:g.37173894G>A	TOPMed
CPLANE1	Q9H799	p.Asn2012Asp	rs984208088	missense variant	-	NC_000005.10:g.37173892T>C	gnomAD
CPLANE1	Q9H799	p.Asn2015Ser	rs545125265	missense variant	-	NC_000005.10:g.37173882T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2019His	COSM3855071	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37173869T>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln2019Ter	rs1159990425	stop gained	-	NC_000005.10:g.37173871G>A	gnomAD
CPLANE1	Q9H799	p.Pro2020Gln	rs748954020	missense variant	-	NC_000005.10:g.37173867G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2021Leu	rs928348123	missense variant	-	NC_000005.10:g.37173864G>A	TOPMed
CPLANE1	Q9H799	p.Ala2022Pro	rs779755677	missense variant	-	NC_000005.10:g.37173862C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2023Leu	rs1461613577	missense variant	-	NC_000005.10:g.37173858G>A	gnomAD
CPLANE1	Q9H799	p.Thr2024Ala	rs1242233296	missense variant	-	NC_000005.10:g.37173856T>C	gnomAD
CPLANE1	Q9H799	p.Pro2025Thr	rs1372408283	missense variant	-	NC_000005.10:g.37173853G>T	TOPMed
CPLANE1	Q9H799	p.Gln2026Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37173850G>A	NCI-TCGA
CPLANE1	Q9H799	p.Gln2029His	rs1237751485	missense variant	-	NC_000005.10:g.37173839C>G	gnomAD
CPLANE1	Q9H799	p.Arg2030Ile	COSM1067784	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37173837C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg2030Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37173837C>T	NCI-TCGA
CPLANE1	Q9H799	p.Glu2032Lys	COSM3615989	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37173832C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu2032Asp	rs764609136	missense variant	-	NC_000005.10:g.37173830T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe2033Cys	RCV000356938	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37173828A>C	ClinVar
CPLANE1	Q9H799	p.Phe2033Cys	RCV000145376	missense variant	-	NC_000005.10:g.37173828A>C	ClinVar
CPLANE1	Q9H799	p.Phe2033Cys	rs10076911	missense variant	-	NC_000005.10:g.37173828A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe2033Cys	RCV000602270	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37173828A>C	ClinVar
CPLANE1	Q9H799	p.Thr2034Ala	rs1228475615	missense variant	-	NC_000005.10:g.37173826T>C	gnomAD
CPLANE1	Q9H799	p.Thr2034Met	rs145854343	missense variant	-	NC_000005.10:g.37173825G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2035Asp	COSM1067782	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37173822G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln2036His	rs759938964	missense variant	-	NC_000005.10:g.37173818C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2039Val	rs1262787542	missense variant	-	NC_000005.10:g.37173810T>A	TOPMed
CPLANE1	Q9H799	p.Ser2041Leu	rs1348795271	missense variant	-	NC_000005.10:g.37173804G>A	TOPMed
CPLANE1	Q9H799	p.Glu2042Ala	rs766565364	missense variant	-	NC_000005.10:g.37173801T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2042Ala	RCV000302069	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37173801T>G	ClinVar
CPLANE1	Q9H799	p.Glu2042Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37173802C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ser2043Pro	rs760692002	missense variant	-	NC_000005.10:g.37173799A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2044Ile	rs773299420	missense variant	-	NC_000005.10:g.37173796C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2044Leu	rs773299420	missense variant	-	NC_000005.10:g.37173796C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2049Arg	rs1469841680	missense variant	-	NC_000005.10:g.37173780T>C	TOPMed
CPLANE1	Q9H799	p.Glu2051LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37173775C>-	NCI-TCGA
CPLANE1	Q9H799	p.Met2052Ile	rs1451062658	missense variant	-	NC_000005.10:g.37173770C>T	gnomAD
CPLANE1	Q9H799	p.Met2052Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37173770C>A	NCI-TCGA
CPLANE1	Q9H799	p.Phe2053Tyr	RCV000706312	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37173768A>T	ClinVar
CPLANE1	Q9H799	p.Phe2053Tyr	RCV000417648	missense variant	-	NC_000005.10:g.37173768A>T	ClinVar
CPLANE1	Q9H799	p.Phe2053Tyr	rs189493985	missense variant	-	NC_000005.10:g.37173768A>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2056Ile	rs748142967	missense variant	-	NC_000005.10:g.37173760C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2058Val	RCV000785934	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37170331G>C	ClinVar
CPLANE1	Q9H799	p.Leu2058Val	rs576883816	missense variant	-	NC_000005.10:g.37170331G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2060His	rs779417324	missense variant	-	NC_000005.10:g.37170323C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2061Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37170321A>T	NCI-TCGA
CPLANE1	Q9H799	p.Asn2062Lys	rs755471609	missense variant	-	NC_000005.10:g.37170317G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2064Val	rs1227635878	missense variant	-	NC_000005.10:g.37170313T>C	TOPMed
CPLANE1	Q9H799	p.Ser2065Arg	rs780513159	missense variant	-	NC_000005.10:g.37170308G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2065Asn	rs754264613	missense variant	-	NC_000005.10:g.37170309C>T	ExAC
CPLANE1	Q9H799	p.Leu2066Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37170306A>G	NCI-TCGA
CPLANE1	Q9H799	p.Leu2066Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37170306A>C	NCI-TCGA
CPLANE1	Q9H799	p.Met2067Arg	rs756418851	missense variant	-	NC_000005.10:g.37170303A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe2074Leu	rs1249354445	missense variant	-	NC_000005.10:g.37170281A>T	gnomAD
CPLANE1	Q9H799	p.Ala2075Asp	rs1326109813	missense variant	-	NC_000005.10:g.37170279G>T	gnomAD
CPLANE1	Q9H799	p.Ala2075Pro	rs1462976136	missense variant	-	NC_000005.10:g.37170280C>G	TOPMed
CPLANE1	Q9H799	p.Asn2076His	rs767783400	missense variant	-	NC_000005.10:g.37170277T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2076Asp	rs767783400	missense variant	-	NC_000005.10:g.37170277T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2076Thr	rs1182101030	missense variant	-	NC_000005.10:g.37170276T>G	TOPMed
CPLANE1	Q9H799	p.Leu2077Phe	rs762000335	missense variant	-	NC_000005.10:g.37170274G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2081Arg	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37170261T>C	NCI-TCGA
CPLANE1	Q9H799	p.Gln2081His	rs751645035	missense variant	-	NC_000005.10:g.37170260T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2082His	rs763974450	missense variant	-	NC_000005.10:g.37170257T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2082Arg	rs1224595164	missense variant	-	NC_000005.10:g.37170258T>C	gnomAD
CPLANE1	Q9H799	p.Leu2083Phe	rs1462238477	missense variant	-	NC_000005.10:g.37170256G>A	gnomAD
CPLANE1	Q9H799	p.Leu2083Pro	rs140110975	missense variant	-	NC_000005.10:g.37170255A>G	ESP,ExAC,TOPMed
CPLANE1	Q9H799	p.Ser2087Thr	rs1026851353	missense variant	-	NC_000005.10:g.37170244A>T	TOPMed
CPLANE1	Q9H799	p.Gln2088Leu	rs1444441843	missense variant	-	NC_000005.10:g.37170240T>A	gnomAD
CPLANE1	Q9H799	p.Gln2088His	rs1336621934	missense variant	-	NC_000005.10:g.37170239C>G	gnomAD
CPLANE1	Q9H799	p.Ser2089Cys	rs1328390144	missense variant	-	NC_000005.10:g.37170237G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2090Met	RCV000690354	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37170235C>T	ClinVar
CPLANE1	Q9H799	p.Val2090Gly	rs769691069	missense variant	-	NC_000005.10:g.37170234A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His2091Arg	rs759257853	missense variant	-	NC_000005.10:g.37170231T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2091Tyr	rs1337314570	missense variant	-	NC_000005.10:g.37170232G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2092Ser	rs558551880	missense variant	-	NC_000005.10:g.37170228A>G	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2092Val	rs915755841	missense variant	-	NC_000005.10:g.37170229A>C	TOPMed
CPLANE1	Q9H799	p.Leu2092Phe	rs938631341	missense variant	-	NC_000005.10:g.37170227T>A	-
CPLANE1	Q9H799	p.Ser2095Gly	rs1362890612	missense variant	-	NC_000005.10:g.37170220T>C	gnomAD
CPLANE1	Q9H799	p.Gln2096Arg	rs1382440073	missense variant	-	NC_000005.10:g.37170216T>C	TOPMed
CPLANE1	Q9H799	p.Gln2096His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37170215T>A	NCI-TCGA
CPLANE1	Q9H799	p.Ser2098Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37170210G>C	NCI-TCGA
CPLANE1	Q9H799	p.Leu2100Gln	rs1226031728	missense variant	-	NC_000005.10:g.37170204A>T	TOPMed
CPLANE1	Q9H799	p.Arg2101Ile	rs771457677	missense variant	-	NC_000005.10:g.37170201C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2101Lys	rs771457677	missense variant	-	NC_000005.10:g.37170201C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2101Gly	rs201739330	missense variant	-	NC_000005.10:g.37170202T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2102Glu	rs1261785453	missense variant	-	NC_000005.10:g.37170198C>T	gnomAD
CPLANE1	Q9H799	p.Cys2103Trp	rs749862200	missense variant	-	NC_000005.10:g.37170194A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2105Gly	rs144243923	missense variant	-	NC_000005.10:g.37170189T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2108Gly	rs750761495	missense variant	-	NC_000005.10:g.37170180T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2108His	rs756508465	missense variant	-	NC_000005.10:g.37170181C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2110Lys	rs764283549	missense variant	-	NC_000005.10:g.37170173G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2110Asp	rs139528477	missense variant	-	NC_000005.10:g.37170175T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2110Asp	RCV000521762	missense variant	-	NC_000005.10:g.37170175T>C	ClinVar
CPLANE1	Q9H799	p.Lys2111Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37170170T>G	NCI-TCGA
CPLANE1	Q9H799	p.Leu2113Val	rs762929896	missense variant	-	NC_000005.10:g.37170166G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe2118Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37170149A>C	NCI-TCGA
CPLANE1	Q9H799	p.Ile2119Val	rs1400800881	missense variant	-	NC_000005.10:g.37170148T>C	gnomAD
CPLANE1	Q9H799	p.Ile2119TyrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37170148_37170149insA	NCI-TCGA
CPLANE1	Q9H799	p.Lys2120Thr	rs150835516	missense variant	-	NC_000005.10:g.37170144T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2120Glu	rs1428034845	missense variant	-	NC_000005.10:g.37170145T>C	TOPMed
CPLANE1	Q9H799	p.Gln2122Glu	rs759347586	missense variant	-	NC_000005.10:g.37170139G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2122Leu	rs776370347	missense variant	-	NC_000005.10:g.37170138T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2122Ter	rs759347586	stop gained	-	NC_000005.10:g.37170139G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2123Pro	rs1358431040	missense variant	-	NC_000005.10:g.37170136A>G	TOPMed
CPLANE1	Q9H799	p.Met2124Val	rs770682379	missense variant	-	NC_000005.10:g.37170133T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2124Ile	rs1476794268	missense variant	-	NC_000005.10:g.37170131C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2125Arg	rs1241858107	missense variant	-	NC_000005.10:g.37170130C>T	gnomAD
CPLANE1	Q9H799	p.Gly2125Glu	rs1359391591	missense variant	-	NC_000005.10:g.37170129C>T	TOPMed
CPLANE1	Q9H799	p.Ala2128Thr	rs772723784	missense variant	-	NC_000005.10:g.37170121C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2128ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37170111_37170120GGCTCTCTGG>-	NCI-TCGA
CPLANE1	Q9H799	p.Glu2130Ala	rs1203452488	missense variant	-	NC_000005.10:g.37170114T>G	gnomAD
CPLANE1	Q9H799	p.Glu2130Asp	rs771676867	missense variant	-	NC_000005.10:g.37170113C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2131His	rs141413425	missense variant	-	NC_000005.10:g.37170111G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2131Ser	rs1315959240	missense variant	-	NC_000005.10:g.37170112G>A	gnomAD
CPLANE1	Q9H799	p.Arg2132Pro	rs148698826	missense variant	-	NC_000005.10:g.37170108C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2132His	rs148698826	missense variant	-	NC_000005.10:g.37170108C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2132Cys	rs578127199	missense variant	-	NC_000005.10:g.37170109G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2132Leu	rs148698826	missense variant	-	NC_000005.10:g.37170108C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2133Thr	rs1218344038	missense variant	-	NC_000005.10:g.37170105T>G	TOPMed
CPLANE1	Q9H799	p.Ser2135Arg	rs781721269	missense variant	-	NC_000005.10:g.37170098G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2136Ter	RCV000024220	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37170098del	ClinVar
CPLANE1	Q9H799	p.Pro2136Ala	rs757674599	missense variant	-	NC_000005.10:g.37170097G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2137Leu	rs958416569	missense variant	-	NC_000005.10:g.37170093T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.His2137Arg	rs958416569	missense variant	-	NC_000005.10:g.37170093T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys2138Tyr	rs1315673648	missense variant	-	NC_000005.10:g.37170090C>T	gnomAD
CPLANE1	Q9H799	p.His2139Arg	rs1017787313	missense variant	-	NC_000005.10:g.37170087T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.His2139Leu	rs1017787313	missense variant	-	NC_000005.10:g.37170087T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2141Arg	rs1365847311	missense variant	-	NC_000005.10:g.37170082C>G	gnomAD
CPLANE1	Q9H799	p.Gly2141Glu	rs747294401	missense variant	-	NC_000005.10:g.37170081C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2142Ser	rs1383700248	missense variant	-	NC_000005.10:g.37170078G>C	gnomAD
CPLANE1	Q9H799	p.Thr2142Ser	rs1424438060	missense variant	-	NC_000005.10:g.37170079T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2143Val	rs6884652	missense variant	-	NC_000005.10:g.37170076T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2143Val	RCV000145377	missense variant	-	NC_000005.10:g.37170076T>C	ClinVar
CPLANE1	Q9H799	p.Ile2143Val	RCV000528573	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37170076T>C	ClinVar
CPLANE1	Q9H799	p.Pro2144Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37170072G>A	NCI-TCGA
CPLANE1	Q9H799	p.Gly2146Ser	rs758516262	missense variant	-	NC_000005.10:g.37170067C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2146Arg	rs758516262	missense variant	-	NC_000005.10:g.37170067C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn2148His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37170061T>G	NCI-TCGA
CPLANE1	Q9H799	p.Asn2148Ser	rs150999024	missense variant	-	NC_000005.10:g.37170060T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2148Ser	RCV000360437	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37170060T>C	ClinVar
CPLANE1	Q9H799	p.Ser2149Asn	rs765250980	missense variant	-	NC_000005.10:g.37170057C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2150Ser	rs754947937	missense variant	-	NC_000005.10:g.37170055T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2152Lys	rs186460995	missense variant	-	NC_000005.10:g.37170047G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2154Arg	rs1418732084	missense variant	-	NC_000005.10:g.37170042T>C	TOPMed
CPLANE1	Q9H799	p.Gln2154Ter	rs1221947399	stop gained	-	NC_000005.10:g.37170043G>A	gnomAD
CPLANE1	Q9H799	p.Asn2155His	rs189240573	missense variant	-	NC_000005.10:g.37169561T>G	1000Genomes
CPLANE1	Q9H799	p.Val2156Ile	rs750138893	missense variant	-	NC_000005.10:g.37169558C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2157Ala	rs1375125673	missense variant	-	NC_000005.10:g.37169555G>C	gnomAD
CPLANE1	Q9H799	p.His2158Arg	rs555821656	missense variant	-	NC_000005.10:g.37169551T>C	gnomAD
CPLANE1	Q9H799	p.Ser2160Asn	rs761416940	missense variant	-	NC_000005.10:g.37169545C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2161Val	rs751206376	missense variant	-	NC_000005.10:g.37169543T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2162Ser	COSM3615985	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169540G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro2162Ala	rs1175850198	missense variant	-	NC_000005.10:g.37169540G>C	gnomAD
CPLANE1	Q9H799	p.Leu2163Phe	rs763759036	missense variant	-	NC_000005.10:g.37169535T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2163Phe	rs763759036	missense variant	-	NC_000005.10:g.37169535T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys2164Ter	rs1177944761	stop gained	-	NC_000005.10:g.37169532A>T	gnomAD
CPLANE1	Q9H799	p.Gly2168Asp	rs762551958	missense variant	-	NC_000005.10:g.37169521C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2169Arg	rs1285169763	missense variant	-	NC_000005.10:g.37169518T>C	TOPMed
CPLANE1	Q9H799	p.Pro2170Ser	rs1201263396	missense variant	-	NC_000005.10:g.37169516G>A	gnomAD
CPLANE1	Q9H799	p.Arg2171Gln	RCV000513844	missense variant	-	NC_000005.10:g.37169512C>T	ClinVar
CPLANE1	Q9H799	p.Arg2171Gln	rs377742483	missense variant	-	NC_000005.10:g.37169512C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2171Trp	rs371324866	missense variant	-	NC_000005.10:g.37169513G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2172Arg	rs773486378	missense variant	-	NC_000005.10:g.37169509T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2176Val	rs1370715094	missense variant	-	NC_000005.10:g.37169498T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2176Phe	rs1370715094	missense variant	-	NC_000005.10:g.37169498T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2178Leu	rs1284859177	missense variant	-	NC_000005.10:g.37169491G>A	TOPMed
CPLANE1	Q9H799	p.Ser2179Tyr	COSM1567698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169488G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser2179Cys	rs1454889932	missense variant	-	NC_000005.10:g.37169488G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2179Phe	rs1454889932	missense variant	-	NC_000005.10:g.37169488G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2180Glu	rs138088605	missense variant	-	NC_000005.10:g.37169486G>C	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2182Phe	rs1346970955	missense variant	-	NC_000005.10:g.37169478T>G	gnomAD
CPLANE1	Q9H799	p.Pro2183Gln	rs768725970	missense variant	-	NC_000005.10:g.37169476G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2184Phe	rs778922159	missense variant	-	NC_000005.10:g.37169473G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2185Ala	rs1378676464	missense variant	-	NC_000005.10:g.37169471T>C	gnomAD
CPLANE1	Q9H799	p.Ser2186Leu	rs779991759	missense variant	-	NC_000005.10:g.37169467G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr2188Cys	rs540226094	missense variant	-	NC_000005.10:g.37169461T>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr2188CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37169425_37169461AAAAGGTAGAGGTGAGTATTTCCAGCAGGAGCTGGAT>-	NCI-TCGA
CPLANE1	Q9H799	p.Tyr2188Ser	rs540226094	missense variant	-	NC_000005.10:g.37169461T>G	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2189Thr	rs750344707	missense variant	-	NC_000005.10:g.37169459G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2189Leu	rs780898967	missense variant	-	NC_000005.10:g.37169458G>A	ExAC
CPLANE1	Q9H799	p.Pro2191Leu	rs757065976	missense variant	-	NC_000005.10:g.37169452G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2192Ser	rs771245317	missense variant	-	NC_000005.10:g.37169450C>A	gnomAD
CPLANE1	Q9H799	p.Asn2194Ser	rs1260872066	missense variant	-	NC_000005.10:g.37169443T>C	gnomAD
CPLANE1	Q9H799	p.Thr2195Ala	rs374876051	missense variant	-	NC_000005.10:g.37169441T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2195Ala	RCV000497814	missense variant	-	NC_000005.10:g.37169441T>C	ClinVar
CPLANE1	Q9H799	p.His2196Gln	rs1314812309	missense variant	-	NC_000005.10:g.37169436G>C	gnomAD
CPLANE1	Q9H799	p.Tyr2198Asp	rs1448749542	missense variant	-	NC_000005.10:g.37169432A>C	gnomAD
CPLANE1	Q9H799	p.Leu2199Phe	rs572837877	missense variant	-	NC_000005.10:g.37169429G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2199Pro	rs1383914163	missense variant	-	NC_000005.10:g.37169428A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2200Phe	rs762568486	missense variant	-	NC_000005.10:g.37169424C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2200Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37169425A>G	NCI-TCGA
CPLANE1	Q9H799	p.Ser2201Tyr	rs554608351	missense variant	-	NC_000005.10:g.37169422G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2202Pro	rs764806035	missense variant	-	NC_000005.10:g.37169420T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2202Ala	rs764806035	missense variant	-	NC_000005.10:g.37169420T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2203Thr	rs773750881	missense variant	-	NC_000005.10:g.37169417G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2203Ala	rs773750881	missense variant	-	NC_000005.10:g.37169417G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2204Phe	rs542481988	missense variant	-	NC_000005.10:g.37169413G>A	1000Genomes,TOPMed
CPLANE1	Q9H799	p.Val2206Phe	rs944168145	missense variant	-	NC_000005.10:g.37169408C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2208Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37169400C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ala2209Gly	rs1384307303	missense variant	-	NC_000005.10:g.37169398G>C	gnomAD
CPLANE1	Q9H799	p.Ala2209Thr	rs762170195	missense variant	-	NC_000005.10:g.37169399C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2211Thr	rs1359733506	missense variant	-	NC_000005.10:g.37169392C>G	TOPMed
CPLANE1	Q9H799	p.Ile2213Asn	rs575049365	missense variant	-	NC_000005.10:g.37169386A>T	1000Genomes,gnomAD
CPLANE1	Q9H799	p.Ile2213Thr	rs575049365	missense variant	-	NC_000005.10:g.37169386A>G	1000Genomes,gnomAD
CPLANE1	Q9H799	p.His2215Arg	rs556705113	missense variant	-	NC_000005.10:g.37169380T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2216Gly	rs749403465	missense variant	-	NC_000005.10:g.37169377G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2218Pro	rs1355023938	missense variant	-	NC_000005.10:g.37169372T>G	TOPMed
CPLANE1	Q9H799	p.Phe2219Cys	rs780148979	missense variant	-	NC_000005.10:g.37169368A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2220Asn	rs769896553	missense variant	-	NC_000005.10:g.37169365C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2222Val	rs1222685350	missense variant	-	NC_000005.10:g.37169359C>A	gnomAD
CPLANE1	Q9H799	p.Asp2223Val	rs538086941	missense variant	-	NC_000005.10:g.37169356T>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2223His	rs1196955944	missense variant	-	NC_000005.10:g.37169357C>G	TOPMed
CPLANE1	Q9H799	p.Asp2223Gly	rs538086941	missense variant	-	NC_000005.10:g.37169356T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2224Asp	rs781188484	missense variant	-	NC_000005.10:g.37169353C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2226Leu	rs757011163	missense variant	-	NC_000005.10:g.37169347G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2226Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37169348G>A	NCI-TCGA
CPLANE1	Q9H799	p.Gln2229Arg	rs1235149447	missense variant	-	NC_000005.10:g.37169338T>C	gnomAD
CPLANE1	Q9H799	p.Lys2231Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37169332T>G	NCI-TCGA
CPLANE1	Q9H799	p.Ser2232Cys	rs751344423	missense variant	-	NC_000005.10:g.37169329G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2232Phe	rs751344423	missense variant	-	NC_000005.10:g.37169329G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2234Ter	rs1381740657	stop gained	-	NC_000005.10:g.37169324G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2234Ter	RCV000778765	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37169324G>A	ClinVar
CPLANE1	Q9H799	p.Phe2236Leu	rs777592572	missense variant	-	NC_000005.10:g.37169316G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Phe2236Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37169317A>G	NCI-TCGA
CPLANE1	Q9H799	p.Gln2237Lys	rs1305188152	missense variant	-	NC_000005.10:g.37169315G>T	gnomAD
CPLANE1	Q9H799	p.Pro2238Leu	rs1162872564	missense variant	-	NC_000005.10:g.37169311G>A	TOPMed
CPLANE1	Q9H799	p.Leu2239Arg	rs1405851308	missense variant	-	NC_000005.10:g.37169308A>C	gnomAD
CPLANE1	Q9H799	p.Leu2239Phe	rs1462556319	missense variant	-	NC_000005.10:g.37169309G>A	TOPMed
CPLANE1	Q9H799	p.Phe2240Val	rs1168462007	missense variant	-	NC_000005.10:g.37169306A>C	TOPMed
CPLANE1	Q9H799	p.His2242Leu	rs764708269	missense variant	-	NC_000005.10:g.37169299T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2242Asn	rs752372376	missense variant	-	NC_000005.10:g.37169300G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2242Arg	rs764708269	missense variant	-	NC_000005.10:g.37169299T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2243Lys	rs1169587356	missense variant	-	NC_000005.10:g.37169296G>T	gnomAD
CPLANE1	Q9H799	p.Gly2244Glu	rs370156540	missense variant	-	NC_000005.10:g.37169293C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2245Asn	rs750897841	missense variant	-	NC_000005.10:g.37169290C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2245Ile	rs750897841	missense variant	-	NC_000005.10:g.37169290C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2246Val	rs768009044	missense variant	-	NC_000005.10:g.37169288T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2248His	rs142772503	missense variant	-	NC_000005.10:g.37169280T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe2251SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37169272A>-	NCI-TCGA
CPLANE1	Q9H799	p.Pro2255Arg	rs764413026	missense variant	-	NC_000005.10:g.37169260G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2258Ile	COSM3855065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169251C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu2259Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37169249C>T	NCI-TCGA
CPLANE1	Q9H799	p.Trp2261Leu	rs775676138	missense variant	-	NC_000005.10:g.37169242C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2262Arg	rs769835888	missense variant	-	NC_000005.10:g.37169240C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2266Phe	rs776449281	missense variant	-	NC_000005.10:g.37169227G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2269Ser	rs1252505731	missense variant	-	NC_000005.10:g.37169219G>A	TOPMed
CPLANE1	Q9H799	p.Ala2270Val	rs1224174978	missense variant	-	NC_000005.10:g.37169215G>A	gnomAD
CPLANE1	Q9H799	p.Ala2270Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37169216C>A	NCI-TCGA
CPLANE1	Q9H799	p.Leu2271Val	rs746910113	missense variant	-	NC_000005.10:g.37169213G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2272Leu	rs777757781	missense variant	-	NC_000005.10:g.37169209G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2276Pro	rs1297390337	missense variant	-	NC_000005.10:g.37169198C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2276Val	rs1264157136	missense variant	-	NC_000005.10:g.37169197G>A	TOPMed
CPLANE1	Q9H799	p.Pro2280Leu	rs1431327344	missense variant	-	NC_000005.10:g.37169185G>A	gnomAD
CPLANE1	Q9H799	p.Ala2281Thr	rs1462923915	missense variant	-	NC_000005.10:g.37169183C>T	TOPMed
CPLANE1	Q9H799	p.Ser2282Phe	rs778561588	missense variant	-	NC_000005.10:g.37169179G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His2283Tyr	COSM449602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169177G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asn2285Thr	COSM1486747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169170T>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser2287Asn	rs147451628	missense variant	-	NC_000005.10:g.37169164C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr2289Cys	rs1301874838	missense variant	-	NC_000005.10:g.37169158T>C	gnomAD
CPLANE1	Q9H799	p.Asn2290Ser	rs767939817	missense variant	-	NC_000005.10:g.37169155T>C	ExAC,TOPMed
CPLANE1	Q9H799	p.Ala2293Val	rs757803020	missense variant	-	NC_000005.10:g.37169146G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2294Thr	COSM449600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169143C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Glu2297Ter	rs752040838	stop gained	-	NC_000005.10:g.37169135C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2297LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37169136T>-	NCI-TCGA
CPLANE1	Q9H799	p.Val2298Ile	rs764501132	missense variant	-	NC_000005.10:g.37169132C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2299Lys	rs1195442022	missense variant	-	NC_000005.10:g.37169129C>T	TOPMed
CPLANE1	Q9H799	p.Lys2301Asn	rs765445066	missense variant	-	NC_000005.10:g.37169121C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2301Met	rs775583275	missense variant	-	NC_000005.10:g.37169122T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2302Met	RCV000254124	missense variant	-	NC_000005.10:g.37169119G>A	ClinVar
CPLANE1	Q9H799	p.Thr2302Met	rs34737149	missense variant	-	NC_000005.10:g.37169119G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2304Val	COSM3855063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169113G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ala2304Thr	rs377342410	missense variant	-	NC_000005.10:g.37169114C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2304Pro	rs377342410	missense variant	-	NC_000005.10:g.37169114C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2306Ser	rs1308328787	missense variant	-	NC_000005.10:g.37169108T>A	gnomAD
CPLANE1	Q9H799	p.Val2307Ile	rs1467364085	missense variant	-	NC_000005.10:g.37169105C>T	TOPMed
CPLANE1	Q9H799	p.Asn2313Lys	COSM1486745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169085A>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asn2313Asp	rs150094586	missense variant	-	NC_000005.10:g.37169087T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2314Arg	COSM3975524	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169083T>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp2318Tyr	COSM6170953	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169072C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp2318Gly	rs991996322	missense variant	-	NC_000005.10:g.37169071T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2319Leu	rs773273441	missense variant	-	NC_000005.10:g.37169068T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2319Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37169069G>A	NCI-TCGA
CPLANE1	Q9H799	p.Gln2319His	rs143147192	missense variant	-	NC_000005.10:g.37169067T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2321Ile	rs1337691600	missense variant	-	NC_000005.10:g.37169063C>T	TOPMed
CPLANE1	Q9H799	p.Gly2322Arg	rs1218624700	missense variant	-	NC_000005.10:g.37169060C>T	TOPMed
CPLANE1	Q9H799	p.Gln2323Arg	rs369786012	missense variant	-	NC_000005.10:g.37169056T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2323Pro	rs369786012	missense variant	-	NC_000005.10:g.37169056T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2323Ter	rs747892965	stop gained	-	NC_000005.10:g.37169057G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2325Ser	rs1178453531	missense variant	-	NC_000005.10:g.37169050T>C	gnomAD
CPLANE1	Q9H799	p.Leu2326Phe	COSM6103729	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169046C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Leu2326Val	rs369870543	missense variant	-	NC_000005.10:g.37169048A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2327Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37169045T>C	NCI-TCGA
CPLANE1	Q9H799	p.Pro2328Ser	rs755609467	missense variant	-	NC_000005.10:g.37169042G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2328Ala	rs755609467	missense variant	-	NC_000005.10:g.37169042G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2329Ter	rs1207045681	stop gained	-	NC_000005.10:g.37169039G>A	TOPMed
CPLANE1	Q9H799	p.Gln2330Arg	RCV000350878	missense variant	-	NC_000005.10:g.37169035T>C	ClinVar
CPLANE1	Q9H799	p.Gln2330Arg	rs886041152	missense variant	-	NC_000005.10:g.37169035T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2331Asn	COSM274299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37169033C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp2331Tyr	rs778190592	missense variant	-	NC_000005.10:g.37169033C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2332Cys	rs1206955333	missense variant	-	NC_000005.10:g.37169029G>C	gnomAD
CPLANE1	Q9H799	p.Ser2332Pro	rs1276661353	missense variant	-	NC_000005.10:g.37169030A>G	gnomAD
CPLANE1	Q9H799	p.Ile2336Met	rs1384646636	missense variant	-	NC_000005.10:g.37169016T>C	gnomAD
CPLANE1	Q9H799	p.Pro2338Ala	rs548311210	missense variant	-	NC_000005.10:g.37169012G>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2340Asn	rs565835408	missense variant	-	NC_000005.10:g.37169004T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2341Pro	rs1400751781	missense variant	-	NC_000005.10:g.37169002A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2343Glu	rs972193512	missense variant	-	NC_000005.10:g.37168995A>C	TOPMed
CPLANE1	Q9H799	p.Val2344Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37168994C>T	NCI-TCGA
CPLANE1	Q9H799	p.Pro2346Ser	rs900094866	missense variant	-	NC_000005.10:g.37168988G>A	TOPMed
CPLANE1	Q9H799	p.Ile2351Met	rs761730351	missense variant	-	NC_000005.10:g.37168971T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2352Pro	RCV000522594	missense variant	-	NC_000005.10:g.37168970A>G	ClinVar
CPLANE1	Q9H799	p.Ser2352Pro	rs774239772	missense variant	-	NC_000005.10:g.37168970A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2352Ala	rs774239772	missense variant	-	NC_000005.10:g.37168970A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2353Ser	rs1317886001	missense variant	-	NC_000005.10:g.37168967G>A	TOPMed
CPLANE1	Q9H799	p.Pro2353Leu	rs1259893340	missense variant	-	NC_000005.10:g.37168966G>A	gnomAD
CPLANE1	Q9H799	p.His2354Gln	rs768316097	missense variant	-	NC_000005.10:g.37168962G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His2355Asn	rs1236201954	missense variant	-	NC_000005.10:g.37168961G>T	gnomAD
CPLANE1	Q9H799	p.Leu2359Arg	rs529965774	missense variant	-	NC_000005.10:g.37168948A>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2359Ile	rs1211605950	missense variant	-	NC_000005.10:g.37168949G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2360Arg	rs779569678	missense variant	-	NC_000005.10:g.37168945G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2360Leu	rs779569678	missense variant	-	NC_000005.10:g.37168945G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2360Ter	RCV000489735	frameshift	-	NC_000005.10:g.37168946del	ClinVar
CPLANE1	Q9H799	p.Tyr2363Ser	rs745328102	missense variant	-	NC_000005.10:g.37168936T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2365Thr	COSM1067776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37168931G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Leu2366GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37168927_37168928insAATAATGATT	NCI-TCGA
CPLANE1	Q9H799	p.Leu2366Phe	rs1227508016	missense variant	-	NC_000005.10:g.37168928G>A	gnomAD
CPLANE1	Q9H799	p.Lys2367Glu	RCV000404414	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37168925T>C	ClinVar
CPLANE1	Q9H799	p.Lys2367Glu	rs778278672	missense variant	-	NC_000005.10:g.37168925T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2368Leu	rs1189341048	missense variant	-	NC_000005.10:g.37168921G>A	TOPMed
CPLANE1	Q9H799	p.Pro2369Arg	rs375221056	missense variant	-	NC_000005.10:g.37168918G>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2371Thr	rs569091312	missense variant	-	NC_000005.10:g.37168912A>G	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2373Ser	COSM268812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37168907G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Thr2375Ala	rs779388665	missense variant	-	NC_000005.10:g.37168901T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2375Ser	rs779388665	missense variant	-	NC_000005.10:g.37168901T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2375Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37168900G>T	NCI-TCGA
CPLANE1	Q9H799	p.Ser2376Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37168897G>A	NCI-TCGA
CPLANE1	Q9H799	p.Ala2378Thr	rs755291552	missense variant	-	NC_000005.10:g.37168892C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2381Arg	rs766649891	missense variant	-	NC_000005.10:g.37168882G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2382Phe	rs958703830	missense variant	-	NC_000005.10:g.37168880C>A	gnomAD
CPLANE1	Q9H799	p.Pro2383Leu	rs760859342	missense variant	-	NC_000005.10:g.37168876G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2385Ala	rs750489289	missense variant	-	NC_000005.10:g.37168871T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2385Ile	rs369361493	missense variant	-	NC_000005.10:g.37168870G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2387Val	rs1351045535	missense variant	-	NC_000005.10:g.37168865T>C	TOPMed
CPLANE1	Q9H799	p.Ile2387Met	rs777957964	missense variant	-	NC_000005.10:g.37168863G>C	gnomAD
CPLANE1	Q9H799	p.Ile2387Val	RCV000658254	missense variant	-	NC_000005.10:g.37168865T>C	ClinVar
CPLANE1	Q9H799	p.Glu2393Val	rs1490915047	missense variant	-	NC_000005.10:g.37168846T>A	gnomAD
CPLANE1	Q9H799	p.Glu2393Asp	rs1269829940	missense variant	-	NC_000005.10:g.37168845T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2395Arg	rs761860332	missense variant	-	NC_000005.10:g.37168840T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2395Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37168840T>G	NCI-TCGA
CPLANE1	Q9H799	p.Pro2397Ter	RCV000201582	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37168836del	ClinVar
CPLANE1	Q9H799	p.Arg2398Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37168831C>A	NCI-TCGA
CPLANE1	Q9H799	p.Leu2402Ile	rs1374565310	missense variant	-	NC_000005.10:g.37168820G>T	TOPMed
CPLANE1	Q9H799	p.Ser2404Leu	rs768563059	missense variant	-	NC_000005.10:g.37168813G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2405Arg	rs762589757	missense variant	-	NC_000005.10:g.37168810T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2407Tyr	rs775140213	missense variant	-	NC_000005.10:g.37168804G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2408Ala	rs769392264	missense variant	-	NC_000005.10:g.37168802G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2411Lys	rs1020416264	missense variant	-	NC_000005.10:g.37168792C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys2412Arg	rs1471004012	missense variant	-	NC_000005.10:g.37167213A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2413Arg	rs1367844401	missense variant	-	NC_000005.10:g.37167209T>C	gnomAD
CPLANE1	Q9H799	p.Lys2413Gln	rs767764800	missense variant	-	NC_000005.10:g.37167210T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2415HisPheSerTerUnkUnk	rs758322225	frameshift	-	NC_000005.10:g.37167204T>-	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Thr2415Ala	rs1413031662	missense variant	-	NC_000005.10:g.37167204T>C	gnomAD
CPLANE1	Q9H799	p.Gln2416Glu	rs763880761	missense variant	-	NC_000005.10:g.37167201G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2416Lys	rs763880761	missense variant	-	NC_000005.10:g.37167201G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2417Arg	COSM4401751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37167197A>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Leu2417Phe	rs1236306561	missense variant	-	NC_000005.10:g.37167198G>A	gnomAD
CPLANE1	Q9H799	p.Ile2418Thr	rs775229916	missense variant	-	NC_000005.10:g.37167194A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2419Leu	rs1425342011	missense variant	-	NC_000005.10:g.37167191G>A	gnomAD
CPLANE1	Q9H799	p.Leu2423Phe	rs557347733	missense variant	-	NC_000005.10:g.37167180G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2424Thr	rs374629869	missense variant	-	NC_000005.10:g.37167176A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2425Val	rs371361208	missense variant	-	NC_000005.10:g.37167173G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2428Glu	rs1378532026	missense variant	-	NC_000005.10:g.37167165G>C	TOPMed
CPLANE1	Q9H799	p.Ser2429Cys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37167162T>A	NCI-TCGA
CPLANE1	Q9H799	p.Gln2430Arg	rs368636136	missense variant	-	NC_000005.10:g.37167158T>C	ESP
CPLANE1	Q9H799	p.Gln2431Arg	rs769003125	missense variant	-	NC_000005.10:g.37167155T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2433Pro	RCV000425279	missense variant	-	NC_000005.10:g.37167149A>G	ClinVar
CPLANE1	Q9H799	p.Leu2433Pro	rs372655878	missense variant	-	NC_000005.10:g.37167149A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2433Pro	RCV000280605	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37167149A>G	ClinVar
CPLANE1	Q9H799	p.His2435Arg	rs746161713	missense variant	-	NC_000005.10:g.37167143T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2440His	COSM6170959	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37167127T>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gly2441Asp	rs757372574	missense variant	-	NC_000005.10:g.37167125C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2442Val	rs1271726278	missense variant	-	NC_000005.10:g.37167122T>A	TOPMed
CPLANE1	Q9H799	p.Asp2442Asn	rs1378331431	missense variant	-	NC_000005.10:g.37167123C>T	gnomAD
CPLANE1	Q9H799	p.Gly2444Glu	rs751548147	missense variant	-	NC_000005.10:g.37167116C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2444Glu	RCV000372715	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37167116C>T	ClinVar
CPLANE1	Q9H799	p.Gln2447His	rs1424374141	missense variant	-	NC_000005.10:g.37167106T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2451Ile	rs764127814	missense variant	-	NC_000005.10:g.37167096C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2452Thr	rs758310612	missense variant	-	NC_000005.10:g.37167092T>G	ExAC
CPLANE1	Q9H799	p.Glu2454Lys	RCV000334532	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37167087C>T	ClinVar
CPLANE1	Q9H799	p.Glu2454Lys	rs867750018	missense variant	-	NC_000005.10:g.37167087C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2454Asp	rs1473120597	missense variant	-	NC_000005.10:g.37167085T>G	TOPMed
CPLANE1	Q9H799	p.Pro2456Thr	rs370647204	missense variant	-	NC_000005.10:g.37167081G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2456Arg	rs146595129	missense variant	-	NC_000005.10:g.37167080G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2456Leu	rs146595129	missense variant	-	NC_000005.10:g.37167080G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2456Ser	rs370647204	missense variant	-	NC_000005.10:g.37167081G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2459Lys	rs760263591	missense variant	-	NC_000005.10:g.37167071C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2462Arg	rs771587067	missense variant	-	NC_000005.10:g.37167062T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2462Glu	rs772638108	missense variant	-	NC_000005.10:g.37167063T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2465Glu	rs1312574220	missense variant	-	NC_000005.10:g.37167054T>C	gnomAD
CPLANE1	Q9H799	p.Lys2465Asn	rs776137645	missense variant	-	NC_000005.10:g.37167052T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2467GlyPheSerTerUnkUnk	COSM2688209	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37167048T>-	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg2470Gly	rs144391535	missense variant	-	NC_000005.10:g.37165664T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2472Thr	rs866330679	missense variant	-	NC_000005.10:g.37165658C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2473Gly	rs1253323704	missense variant	-	NC_000005.10:g.37165654T>C	TOPMed
CPLANE1	Q9H799	p.Glu2473Lys	rs886060576	missense variant	-	NC_000005.10:g.37165655C>T	-
CPLANE1	Q9H799	p.Glu2473Lys	RCV000295865	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37165655C>T	ClinVar
CPLANE1	Q9H799	p.Lys2474Glu	rs776153982	missense variant	-	NC_000005.10:g.37165652T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2475Gln	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37165649C>G	NCI-TCGA
CPLANE1	Q9H799	p.Lys2479Arg	COSM482789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37165636T>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg2480Ile	COSM1067770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37165633C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg2480AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37165634T>-	NCI-TCGA
CPLANE1	Q9H799	p.Arg2480Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37165633C>T	NCI-TCGA
CPLANE1	Q9H799	p.Arg2480Ter	RCV000387628	frameshift	Joubert syndrome (JBTS)	NC_000005.10:g.37165639dup	ClinVar
CPLANE1	Q9H799	p.Glu2482Lys	rs563822555	missense variant	-	NC_000005.10:g.37165628C>T	1000Genomes,gnomAD
CPLANE1	Q9H799	p.Glu2482Asp	rs760013081	missense variant	-	NC_000005.10:g.37165626C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2486Lys	rs1199052348	missense variant	-	NC_000005.10:g.37165615C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2487Arg	rs1189972276	missense variant	-	NC_000005.10:g.37165612T>C	TOPMed
CPLANE1	Q9H799	p.Asn2489Lys	rs149781800	missense variant	-	NC_000005.10:g.37165605A>C	ESP
CPLANE1	Q9H799	p.Arg2493Ter	RCV000763544	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37165595G>A	ClinVar
CPLANE1	Q9H799	p.Arg2493Leu	RCV000330806	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37165594C>A	ClinVar
CPLANE1	Q9H799	p.Arg2493Gln	rs183942272	missense variant	-	NC_000005.10:g.37165594C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2493Leu	rs183942272	missense variant	-	NC_000005.10:g.37165594C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2493Ter	rs139675596	stop gained	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37165595G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2493Ter	RCV000024222	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37165595G>A	ClinVar
CPLANE1	Q9H799	p.Pro2494Gln	rs1259217386	missense variant	-	NC_000005.10:g.37165591G>T	gnomAD
CPLANE1	Q9H799	p.Glu2495Asp	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37165587C>A	NCI-TCGA
CPLANE1	Q9H799	p.Asn2496Asp	rs772150231	missense variant	-	NC_000005.10:g.37165586T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2497Pro	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37165583A>G	NCI-TCGA
CPLANE1	Q9H799	p.Ser2497Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37165582G>A	NCI-TCGA
CPLANE1	Q9H799	p.Ile2498Val	rs940680431	missense variant	-	NC_000005.10:g.37165580T>C	TOPMed
CPLANE1	Q9H799	p.Asn2501Ser	rs909137914	missense variant	-	NC_000005.10:g.37165570T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2502Glu	rs1267264302	missense variant	-	NC_000005.10:g.37165566A>C	gnomAD
CPLANE1	Q9H799	p.Asp2503Asn	rs377710348	missense variant	-	NC_000005.10:g.37165565C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2503Tyr	rs377710348	missense variant	-	NC_000005.10:g.37165565C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2504Leu	rs1208635414	missense variant	-	NC_000005.10:g.37165561G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2507Thr	rs937224174	missense variant	-	NC_000005.10:g.37165552A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2509Arg	COSM1437338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37165546T>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro2510Leu	COSM3615977	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37165543G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln2514Glu	rs768709495	missense variant	-	NC_000005.10:g.37164321G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2514Arg	rs1208524492	missense variant	-	NC_000005.10:g.37164320T>C	gnomAD
CPLANE1	Q9H799	p.Glu2515Gln	rs779976528	missense variant	-	NC_000005.10:g.37164318C>G	ExAC,TOPMed
CPLANE1	Q9H799	p.His2516Arg	rs755876129	missense variant	-	NC_000005.10:g.37164314T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys2517Arg	rs745629319	missense variant	-	NC_000005.10:g.37164312A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2518Val	rs781025101	missense variant	-	NC_000005.10:g.37164308C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2519Cys	rs1219156672	missense variant	-	NC_000005.10:g.37164305G>C	gnomAD
CPLANE1	Q9H799	p.His2520Tyr	rs757013066	missense variant	-	NC_000005.10:g.37164303G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His2520Arg	rs369951498	missense variant	-	NC_000005.10:g.37164302T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2521Ser	COSM3615975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37164300G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro2521Arg	rs922260468	missense variant	-	NC_000005.10:g.37164299G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2523Asn	rs1358414759	missense variant	-	NC_000005.10:g.37164294C>T	gnomAD
CPLANE1	Q9H799	p.Asp2524Glu	rs1284656558	missense variant	-	NC_000005.10:g.37164289G>T	gnomAD
CPLANE1	Q9H799	p.Asp2526Asn	rs535480596	missense variant	-	NC_000005.10:g.37164285C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2527Ile	rs749261159	missense variant	-	NC_000005.10:g.37164282C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2528Leu	rs760976416	missense variant	-	NC_000005.10:g.37164278G>A	ExAC
CPLANE1	Q9H799	p.Pro2528Thr	rs1359475338	missense variant	-	NC_000005.10:g.37164279G>T	gnomAD
CPLANE1	Q9H799	p.Glu2530Ter	rs1298014994	stop gained	-	NC_000005.10:g.37164273C>A	gnomAD
CPLANE1	Q9H799	p.Met2531Ile	rs764251745	missense variant	-	NC_000005.10:g.37162562C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2531Thr	rs904884378	missense variant	-	NC_000005.10:g.37162563A>G	TOPMed
CPLANE1	Q9H799	p.Gln2533Pro	rs1013620636	missense variant	-	NC_000005.10:g.37162557T>G	TOPMed
CPLANE1	Q9H799	p.Gln2533Glu	rs1170297392	missense variant	-	NC_000005.10:g.37162558G>C	TOPMed
CPLANE1	Q9H799	p.Asn2536Ser	rs1479125312	missense variant	-	NC_000005.10:g.37162548T>C	gnomAD
CPLANE1	Q9H799	p.Ser2538Ala	rs769743728	missense variant	-	NC_000005.10:g.37162543A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2538Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37162542G>A	NCI-TCGA
CPLANE1	Q9H799	p.Ala2539Pro	rs759577755	missense variant	-	NC_000005.10:g.37162540C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2539Val	rs150595284	missense variant	-	NC_000005.10:g.37162539G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2539Val	RCV000426152	missense variant	-	NC_000005.10:g.37162539G>A	ClinVar
CPLANE1	Q9H799	p.Met2544Ile	rs1255603795	missense variant	-	NC_000005.10:g.37162523C>A	gnomAD
CPLANE1	Q9H799	p.Met2544Val	rs746748652	missense variant	-	NC_000005.10:g.37162525T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2546Phe	rs1367845087	missense variant	-	NC_000005.10:g.37162518G>A	gnomAD
CPLANE1	Q9H799	p.Ser2546Pro	rs777596158	missense variant	-	NC_000005.10:g.37162519A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2549ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37162509T>-	NCI-TCGA
CPLANE1	Q9H799	p.Lys2549Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37162508C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ile2552Val	rs1333881954	missense variant	-	NC_000005.10:g.37162501T>C	gnomAD
CPLANE1	Q9H799	p.Gln2555Ter	rs1399729257	stop gained	-	NC_000005.10:g.37162492G>A	gnomAD
CPLANE1	Q9H799	p.Asp2556Asn	rs1254195539	missense variant	-	NC_000005.10:g.37162489C>T	gnomAD
CPLANE1	Q9H799	p.Ala2557Val	COSM1437336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37162485G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ala2557Thr	rs754440323	missense variant	-	NC_000005.10:g.37162486C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2558Arg	rs1426095975	missense variant	-	NC_000005.10:g.37162483T>G	gnomAD
CPLANE1	Q9H799	p.Asn2560Asp	rs1271387050	missense variant	-	NC_000005.10:g.37162477T>C	TOPMed
CPLANE1	Q9H799	p.Thr2561Ala	COSM6103731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37162474T>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Thr2561Ile	rs750933570	missense variant	-	NC_000005.10:g.37162473G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2568Phe	rs748748730	missense variant	-	NC_000005.10:g.37158332C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2569Ala	rs781687730	missense variant	-	NC_000005.10:g.37158331T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2570Ser	rs757802926	missense variant	-	NC_000005.10:g.37158328C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2571Ser	rs1413219707	missense variant	-	NC_000005.10:g.37158325G>A	gnomAD
CPLANE1	Q9H799	p.Leu2574Met	rs1298611902	missense variant	-	NC_000005.10:g.37158316A>T	gnomAD
CPLANE1	Q9H799	p.Asp2577Val	rs778261277	missense variant	-	NC_000005.10:g.37158306T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2577Tyr	COSM279426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37158307C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Tyr2579Phe	COSM449598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37158300T>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Tyr2579Cys	rs771614298	missense variant	-	NC_000005.10:g.37158300T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2583Met	rs1412521587	missense variant	-	NC_000005.10:g.37158288T>A	gnomAD
CPLANE1	Q9H799	p.Ser2585Cys	rs1217838562	missense variant	-	NC_000005.10:g.37158282G>C	gnomAD
CPLANE1	Q9H799	p.Ser2585Ala	rs376307103	missense variant	-	NC_000005.10:g.37158283A>C	ESP,gnomAD
CPLANE1	Q9H799	p.Ser2586Gly	rs759716117	missense variant	-	NC_000005.10:g.37158280T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2587Asp	rs1322825265	missense variant	-	NC_000005.10:g.37158275T>G	gnomAD
CPLANE1	Q9H799	p.Glu2587Gly	rs766541647	missense variant	-	NC_000005.10:g.37158276T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2587Gln	rs754007510	missense variant	-	NC_000005.10:g.37158277C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2588Ile	rs760750533	missense variant	-	NC_000005.10:g.37158272C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2588Thr	rs1391160336	missense variant	-	NC_000005.10:g.37158273A>G	TOPMed
CPLANE1	Q9H799	p.Ser2589Pro	rs773017769	missense variant	-	NC_000005.10:g.37158271A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2590Asp	rs1231593037	missense variant	-	NC_000005.10:g.37158266C>A	TOPMed
CPLANE1	Q9H799	p.Pro2592Leu	rs16903518	missense variant	-	NC_000005.10:g.37158261G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2592Leu	RCV000327038	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37158261G>A	ClinVar
CPLANE1	Q9H799	p.Pro2592Ser	rs1382954500	missense variant	-	NC_000005.10:g.37158262G>A	gnomAD
CPLANE1	Q9H799	p.Trp2593Ter	rs863225159	stop gained	-	NC_000005.10:g.37158258C>T	TOPMed
CPLANE1	Q9H799	p.Trp2593Ser	rs863225159	missense variant	-	NC_000005.10:g.37158258C>G	TOPMed
CPLANE1	Q9H799	p.Trp2593Ter	RCV000201681	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37158258C>T	ClinVar
CPLANE1	Q9H799	p.Ser2594Ter	rs1382604743	stop gained	-	NC_000005.10:g.37158255G>C	gnomAD
CPLANE1	Q9H799	p.Pro2595Leu	rs139756203	missense variant	-	NC_000005.10:g.37158252G>A	ESP
CPLANE1	Q9H799	p.Ile2597Met	rs1458394098	missense variant	-	NC_000005.10:g.37158245T>C	gnomAD
CPLANE1	Q9H799	p.Ile2597Val	rs774074728	missense variant	-	NC_000005.10:g.37158247T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2599Arg	rs940440264	missense variant	-	NC_000005.10:g.37158240T>C	TOPMed
CPLANE1	Q9H799	p.Thr2600Ile	rs748908546	missense variant	-	NC_000005.10:g.37158237G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2600Ala	rs768154559	missense variant	-	NC_000005.10:g.37158238T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2601Ala	rs769282058	missense variant	-	NC_000005.10:g.37158234A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2602Ile	rs778078642	missense variant	-	NC_000005.10:g.37158231G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2602Arg	rs778078642	missense variant	-	NC_000005.10:g.37158231G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn2603Tyr	rs1260144413	missense variant	-	NC_000005.10:g.37158229T>A	gnomAD
CPLANE1	Q9H799	p.Leu2604Phe	rs758807080	missense variant	-	NC_000005.10:g.37158224C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2605Lys	rs755388205	missense variant	-	NC_000005.10:g.37157814C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2606Ter	RCV000415153	nonsense	Global developmental delay (DD)	NC_000005.10:g.37157810A>T	ClinVar
CPLANE1	Q9H799	p.Leu2606Ter	RCV000255254	nonsense	-	NC_000005.10:g.37157810A>T	ClinVar
CPLANE1	Q9H799	p.Leu2606Ter	rs749523755	stop gained	-	NC_000005.10:g.37157810A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2606Ter	RCV000201773	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37157810A>T	ClinVar
CPLANE1	Q9H799	p.Leu2606Ter	RCV000646703	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37157810A>T	ClinVar
CPLANE1	Q9H799	p.Pro2607Ser	rs780364860	missense variant	-	NC_000005.10:g.37157808G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2607Thr	rs780364860	missense variant	-	NC_000005.10:g.37157808G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2608Leu	rs1172144094	missense variant	-	NC_000005.10:g.37157805C>G	gnomAD
CPLANE1	Q9H799	p.Glu2610Val	rs200930248	missense variant	-	NC_000005.10:g.37157798T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2613Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37157789G>A	NCI-TCGA
CPLANE1	Q9H799	p.Asp2615Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37157784C>T	NCI-TCGA
CPLANE1	Q9H799	p.Asn2616Ser	rs375351922	missense variant	-	NC_000005.10:g.37157780T>C	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2621Lys	rs200125242	missense variant	-	NC_000005.10:g.37157766G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2621Leu	rs909028294	missense variant	-	NC_000005.10:g.37157765T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2621Ter	rs200125242	stop gained	-	NC_000005.10:g.37157766G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2623Asn	rs763944746	missense variant	-	NC_000005.10:g.37157760C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2626Val	rs762672416	missense variant	-	NC_000005.10:g.37157750G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2627Ile	rs1278821839	missense variant	-	NC_000005.10:g.37157748C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2628Ser	COSM3615973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37157745G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser2629Leu	rs202140926	missense variant	-	NC_000005.10:g.37157741G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2629Ala	rs1341812944	missense variant	-	NC_000005.10:g.37157742A>C	gnomAD
CPLANE1	Q9H799	p.Ala2631Gly	rs1373212737	missense variant	-	NC_000005.10:g.37157735G>C	gnomAD
CPLANE1	Q9H799	p.His2634Arg	RCV000304848	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37157726T>C	ClinVar
CPLANE1	Q9H799	p.His2634Arg	rs373755833	missense variant	-	NC_000005.10:g.37157726T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr2635Cys	rs371374142	missense variant	-	NC_000005.10:g.37157723T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2636Thr	rs1340028712	missense variant	-	NC_000005.10:g.37157720A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2636Val	rs762290119	missense variant	-	NC_000005.10:g.37157721T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2637Val	rs778345084	missense variant	-	NC_000005.10:g.37157717G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2638Val	rs769154511	missense variant	-	NC_000005.10:g.37157714G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2638Gly	rs769154511	missense variant	-	NC_000005.10:g.37157714G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2639Leu	rs79399627	missense variant	-	NC_000005.10:g.37157711G>A	-
CPLANE1	Q9H799	p.Val2640Ile	rs988332114	missense variant	-	NC_000005.10:g.37157709C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2641Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37157706T>C	NCI-TCGA
CPLANE1	Q9H799	p.Asn2642Asp	rs756411183	missense variant	-	NC_000005.10:g.37157703T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2642His	rs756411183	missense variant	-	NC_000005.10:g.37157703T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2642Lys	rs1218533130	missense variant	-	NC_000005.10:g.37157701A>C	gnomAD
CPLANE1	Q9H799	p.Val2644Leu	RCV000266245	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37157697C>G	ClinVar
CPLANE1	Q9H799	p.Val2644Leu	rs772274656	missense variant	-	NC_000005.10:g.37157697C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2645Ser	rs187659028	missense variant	-	NC_000005.10:g.37157694G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2646Ter	RCV000530477	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37157693_37157694del	ClinVar
CPLANE1	Q9H799	p.Pro2646Gln	rs896218202	missense variant	-	NC_000005.10:g.37157690G>T	gnomAD
CPLANE1	Q9H799	p.His2647Tyr	rs1232111191	missense variant	-	NC_000005.10:g.37157688G>A	gnomAD
CPLANE1	Q9H799	p.Phe2649Cys	COSM1067767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37157681A>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Phe2659Leu	rs916238209	missense variant	-	NC_000005.10:g.37153974G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2660Gln	rs765750324	missense variant	-	NC_000005.10:g.37153972C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2660Ter	rs147416429	stop gained	-	NC_000005.10:g.37153973G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2660Ter	RCV000201628	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37153973G>A	ClinVar
CPLANE1	Q9H799	p.Phe2661Leu	COSM3776669	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37153968G>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln2664Leu	rs759855888	missense variant	-	NC_000005.10:g.37153960T>A	ExAC
CPLANE1	Q9H799	p.Lys2667Glu	rs777081792	missense variant	-	NC_000005.10:g.37153952T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2673Tyr	rs1217204932	missense variant	-	NC_000005.10:g.37153934C>A	gnomAD
CPLANE1	Q9H799	p.Tyr2674Phe	rs1316822863	missense variant	-	NC_000005.10:g.37153930T>A	gnomAD
CPLANE1	Q9H799	p.Leu2675CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37153925_37153928ATAG>-	NCI-TCGA
CPLANE1	Q9H799	p.Lys2678Gln	rs773422060	missense variant	-	NC_000005.10:g.37153919T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2679Trp	rs142792453	missense variant	-	NC_000005.10:g.37153916G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2679Gln	rs748207149	missense variant	-	NC_000005.10:g.37153915C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2679Trp	RCV000358559	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37153916G>A	ClinVar
CPLANE1	Q9H799	p.Gly2682Arg	rs768671286	missense variant	-	NC_000005.10:g.37153907C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2682Asp	rs1174907463	missense variant	-	NC_000005.10:g.37153906C>T	gnomAD
CPLANE1	Q9H799	p.Ala2684Thr	VAR_082878	Missense	Joubert syndrome 17 (JBTS17) [MIM:614615]	-	UniProt
CPLANE1	Q9H799	p.Cys2687Phe	rs1453011000	missense variant	-	NC_000005.10:g.37153891C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2688Ser	COSM3919998	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37153889G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ala2694Pro	rs749132510	missense variant	-	NC_000005.10:g.37153871C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2694Thr	RCV000597090	missense variant	-	NC_000005.10:g.37153871C>T	ClinVar
CPLANE1	Q9H799	p.Ala2694Thr	rs749132510	missense variant	-	NC_000005.10:g.37153871C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.His2695Arg	rs1321227202	missense variant	-	NC_000005.10:g.37153867T>C	TOPMed
CPLANE1	Q9H799	p.Gln2696His	rs769645726	missense variant	-	NC_000005.10:g.37153863T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2696His	rs769645726	missense variant	-	NC_000005.10:g.37153863T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2696Ter	rs143060853	stop gained	-	NC_000005.10:g.37153865G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2696Glu	rs143060853	missense variant	-	NC_000005.10:g.37153865G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2697Val	rs1248343536	missense variant	-	NC_000005.10:g.37153862G>C	TOPMed
CPLANE1	Q9H799	p.Glu2698Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37153859C>A	NCI-TCGA
CPLANE1	Q9H799	p.His2699Gln	rs1466001074	missense variant	-	NC_000005.10:g.37153854A>T	TOPMed
CPLANE1	Q9H799	p.Ser2701Arg	rs149463060	missense variant	-	NC_000005.10:g.37153848A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2702Ser	rs1485846234	missense variant	-	NC_000005.10:g.37153847C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2707Ser	rs764690794	missense variant	-	NC_000005.10:g.37153831A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2707Thr	rs764690794	missense variant	-	NC_000005.10:g.37153831A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2708Glu	rs114126795	missense variant	-	NC_000005.10:g.37153827G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2708His	rs1335627553	missense variant	-	NC_000005.10:g.37153829C>G	gnomAD
CPLANE1	Q9H799	p.Glu2709Lys	rs200612080	missense variant	-	NC_000005.10:g.37153826C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2709Lys	RCV000547081	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37153826C>T	ClinVar
CPLANE1	Q9H799	p.Gln2710His	rs766837329	missense variant	-	NC_000005.10:g.37153821C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2710Arg	rs754236106	missense variant	-	NC_000005.10:g.37153822T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2710Pro	rs754236106	missense variant	-	NC_000005.10:g.37153822T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2711Phe	rs761017519	missense variant	-	NC_000005.10:g.37153818C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2714Val	rs767698613	missense variant	-	NC_000005.10:g.37153811T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2714Thr	rs1375688917	missense variant	-	NC_000005.10:g.37153810A>G	gnomAD
CPLANE1	Q9H799	p.Asn2716Lys	rs1393176165	missense variant	-	NC_000005.10:g.37153803G>C	gnomAD
CPLANE1	Q9H799	p.Asn2716Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37153804T>G	NCI-TCGA
CPLANE1	Q9H799	p.Ala2718Thr	rs761984446	missense variant	-	NC_000005.10:g.37153799C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2719Lys	rs1466899045	missense variant	-	NC_000005.10:g.37153796C>T	gnomAD
CPLANE1	Q9H799	p.Ile2721Met	rs1280623208	missense variant	-	NC_000005.10:g.37153788T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2721Val	rs768561508	missense variant	-	NC_000005.10:g.37153790T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2721ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37153788_37153789TA>-	NCI-TCGA
CPLANE1	Q9H799	p.Glu2722Phe	RCV000723060	missense variant	-	NC_000005.10:g.37153785_37153787delinsAAA	ClinVar
CPLANE1	Q9H799	p.Glu2722Ter	rs762951863	stop gained	-	NC_000005.10:g.37153787C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2722Asp	rs769769195	missense variant	-	NC_000005.10:g.37153785T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2722Val	rs775284647	missense variant	-	NC_000005.10:g.37153786T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2723Ter	rs863225152	stop gained	-	NC_000005.10:g.37153784G>A	-
CPLANE1	Q9H799	p.Gln2723Ter	RCV000201646	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37153784G>A	ClinVar
CPLANE1	Q9H799	p.Asp2724Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37153780T>A	NCI-TCGA
CPLANE1	Q9H799	p.Phe2725Leu	COSM1067761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37153776G>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Lys2727Asn	rs1469286509	missense variant	-	NC_000005.10:g.37153770C>A	gnomAD
CPLANE1	Q9H799	p.Pro2728Thr	rs77014998	missense variant	-	NC_000005.10:g.37153769G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2728Thr	RCV000395988	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37153769G>T	ClinVar
CPLANE1	Q9H799	p.Met2730Ile	rs781029281	missense variant	-	NC_000005.10:g.37153761C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2730Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37153763T>G	NCI-TCGA
CPLANE1	Q9H799	p.Leu2731Val	rs770735282	missense variant	-	NC_000005.10:g.37153760G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2733Val	rs777345649	missense variant	-	NC_000005.10:g.37153754G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His2734Arg	rs541921016	missense variant	-	NC_000005.10:g.37153750T>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Cys2735Ser	rs754429808	missense variant	-	NC_000005.10:g.37153747C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys2735Ser	rs1222784721	missense variant	-	NC_000005.10:g.37153748A>T	TOPMed
CPLANE1	Q9H799	p.Ile2738Thr	rs372318347	missense variant	-	NC_000005.10:g.37148267A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2738Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37148268T>C	NCI-TCGA
CPLANE1	Q9H799	p.Asp2742His	COSM345754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37148256C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asp2742Gly	rs1435661090	missense variant	-	NC_000005.10:g.37148255T>C	gnomAD
CPLANE1	Q9H799	p.His2743Tyr	rs1375375538	missense variant	-	NC_000005.10:g.37148253G>A	gnomAD
CPLANE1	Q9H799	p.Ile2744Val	COSM737888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37148250T>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ile2744Thr	rs368365632	missense variant	-	NC_000005.10:g.37148249A>G	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Phe2746Leu	rs1455795556	missense variant	-	NC_000005.10:g.37148242G>T	gnomAD
CPLANE1	Q9H799	p.Ser2747Pro	rs1364512527	missense variant	-	NC_000005.10:g.37148241A>G	gnomAD
CPLANE1	Q9H799	p.Pro2750Ser	rs377107065	missense variant	-	NC_000005.10:g.37148232G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2753Asn	rs1278006579	missense variant	-	NC_000005.10:g.37148221T>A	TOPMed
CPLANE1	Q9H799	p.Lys2754Glu	rs1188408039	missense variant	-	NC_000005.10:g.37148220T>C	gnomAD
CPLANE1	Q9H799	p.Thr2755Ter	RCV000201730	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37148223dup	ClinVar
CPLANE1	Q9H799	p.Thr2755Ter	RCV000687643	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37148223del	ClinVar
CPLANE1	Q9H799	p.Thr2755AsnPheSerTerUnk	rs775263897	frameshift	-	NC_000005.10:g.37148216_37148217insT	NCI-TCGA,NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Thr2755Ter	RCV000646711	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37148216_37148217insC	ClinVar
CPLANE1	Q9H799	p.Thr2755Ter	RCV000201534	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37148216_37148217insC	ClinVar
CPLANE1	Q9H799	p.Thr2755Ter	RCV000415331	frameshift	Global developmental delay (DD)	NC_000005.10:g.37148223dup	ClinVar
CPLANE1	Q9H799	p.Ala2757Val	rs140657139	missense variant	-	NC_000005.10:g.37148210G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2759Glu	rs1206876437	missense variant	-	NC_000005.10:g.37148205T>C	gnomAD
CPLANE1	Q9H799	p.Thr2760Asn	rs752852852	missense variant	-	NC_000005.10:g.37148201G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2761Val	rs1284994227	missense variant	-	NC_000005.10:g.37148199T>C	gnomAD
CPLANE1	Q9H799	p.Ser2762Arg	rs1356986827	missense variant	-	NC_000005.10:g.37148194G>C	gnomAD
CPLANE1	Q9H799	p.Ser2762Asn	rs765356032	missense variant	-	NC_000005.10:g.37148195C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2763Val	rs1293453280	missense variant	-	NC_000005.10:g.37148193T>C	gnomAD
CPLANE1	Q9H799	p.Arg2768Cys	rs758569421	missense variant	-	NC_000005.10:g.37142478G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2768Ser	rs758569421	missense variant	-	NC_000005.10:g.37142478G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2768His	rs752905880	missense variant	-	NC_000005.10:g.37142477C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2771Ile	rs142316931	missense variant	-	NC_000005.10:g.37142468G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2773Val	rs1014611980	missense variant	-	NC_000005.10:g.37142463T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2779Thr	rs766198617	missense variant	-	NC_000005.10:g.37142444C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2779Asn	rs766198617	missense variant	-	NC_000005.10:g.37142444C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2782Glu	rs1191010738	missense variant	-	NC_000005.10:g.37142436T>C	gnomAD
CPLANE1	Q9H799	p.Glu2786Lys	rs370334507	missense variant	-	NC_000005.10:g.37142424C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2791Val	rs561289580	missense variant	-	NC_000005.10:g.37142409T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2792Ser	rs773990114	missense variant	-	NC_000005.10:g.37142406T>A	ExAC
CPLANE1	Q9H799	p.Glu2793Gln	RCV000403777	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37142403C>G	ClinVar
CPLANE1	Q9H799	p.Glu2793Gln	rs886060574	missense variant	-	NC_000005.10:g.37142403C>G	-
CPLANE1	Q9H799	p.Glu2793Val	rs1313782081	missense variant	-	NC_000005.10:g.37142402T>A	TOPMed
CPLANE1	Q9H799	p.Asn2794Lys	rs768212399	missense variant	-	NC_000005.10:g.37142398A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2796Tyr	rs762428272	missense variant	-	NC_000005.10:g.37142393G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Phe2803Ile	rs778010488	missense variant	-	NC_000005.10:g.37142373A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2807Asn	rs748445168	missense variant	-	NC_000005.10:g.37142361C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2808Ter	rs1477186639	stop gained	-	NC_000005.10:g.37142357G>C	TOPMed
CPLANE1	Q9H799	p.Ser2808Leu	rs1477186639	missense variant	-	NC_000005.10:g.37142357G>A	TOPMed
CPLANE1	Q9H799	p.Ser2811Asn	rs752341833	missense variant	-	NC_000005.10:g.37142348C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2812Pro	rs755153238	missense variant	-	NC_000005.10:g.37142345A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2814Arg	rs780136856	missense variant	-	NC_000005.10:g.37142340T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2814Ile	rs756020116	missense variant	-	NC_000005.10:g.37142339C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2814Cys	rs780136856	missense variant	-	NC_000005.10:g.37142340T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2816Gly	rs1242922506	missense variant	-	NC_000005.10:g.37142334T>C	gnomAD
CPLANE1	Q9H799	p.Asp2817Gly	rs750310066	missense variant	-	NC_000005.10:g.37142330T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2817His	rs1451962517	missense variant	-	NC_000005.10:g.37142331C>G	gnomAD
CPLANE1	Q9H799	p.Gln2818Arg	rs1204834796	missense variant	-	NC_000005.10:g.37142327T>C	gnomAD
CPLANE1	Q9H799	p.Thr2821Ala	rs563494619	missense variant	-	NC_000005.10:g.37142319T>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2821Ser	rs563494619	missense variant	-	NC_000005.10:g.37142319T>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2822Ala	rs751260970	missense variant	-	NC_000005.10:g.37142316A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2822Cys	rs763705214	missense variant	-	NC_000005.10:g.37142315G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2825Val	rs991518920	missense variant	-	NC_000005.10:g.37139368T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2826Ile	rs1224364424	missense variant	-	NC_000005.10:g.37139364T>A	gnomAD
CPLANE1	Q9H799	p.Ser2827Gly	rs1033912985	missense variant	-	NC_000005.10:g.37139362T>C	gnomAD
CPLANE1	Q9H799	p.Ser2828Asn	rs1283787523	missense variant	-	NC_000005.10:g.37139358C>T	TOPMed
CPLANE1	Q9H799	p.Ser2828Gly	rs1222182691	missense variant	-	NC_000005.10:g.37139359T>C	TOPMed
CPLANE1	Q9H799	p.Glu2830Lys	rs1286612650	missense variant	-	NC_000005.10:g.37139353C>T	gnomAD
CPLANE1	Q9H799	p.Leu2831Phe	rs139793397	missense variant	-	NC_000005.10:g.37139348C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2833Lys	rs757083511	missense variant	-	NC_000005.10:g.37139344C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2837Ter	RCV000478868	frameshift	-	NC_000005.10:g.37138834_37138840delinsAT	ClinVar
CPLANE1	Q9H799	p.Val2837Ala	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37138840A>G	NCI-TCGA
CPLANE1	Q9H799	p.Val2837Leu	VAR_072544	Missense	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]	-	UniProt
CPLANE1	Q9H799	p.His2838Tyr	RCV000145385	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37138838G>A	ClinVar
CPLANE1	Q9H799	p.His2838Tyr	RCV000290704	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37138838G>A	ClinVar
CPLANE1	Q9H799	p.His2838Tyr	rs201404524	missense variant	-	NC_000005.10:g.37138838G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2839Leu	RCV000382022	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37138834G>A	ClinVar
CPLANE1	Q9H799	p.Pro2839Gln	rs147426388	missense variant	-	NC_000005.10:g.37138834G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2839Leu	rs147426388	missense variant	-	NC_000005.10:g.37138834G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2839Leu	RCV000646708	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37138834G>A	ClinVar
CPLANE1	Q9H799	p.Pro2839Leu	RCV000419680	missense variant	-	NC_000005.10:g.37138834G>A	ClinVar
CPLANE1	Q9H799	p.Met2842Lys	rs752346313	missense variant	-	NC_000005.10:g.37138825A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2842Thr	rs752346313	missense variant	-	NC_000005.10:g.37138825A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2846Ile	rs1025710972	missense variant	-	NC_000005.10:g.37138813G>A	TOPMed
CPLANE1	Q9H799	p.Asp2847Asn	rs539409643	missense variant	-	NC_000005.10:g.37138811C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2849Ser	rs1219639210	missense variant	-	NC_000005.10:g.37138805C>A	gnomAD
CPLANE1	Q9H799	p.Ala2849Val	rs754550865	missense variant	-	NC_000005.10:g.37138804G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2850Gly	rs144427399	missense variant	-	NC_000005.10:g.37138801T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2850Glu	rs1213953764	missense variant	-	NC_000005.10:g.37138800G>C	gnomAD
CPLANE1	Q9H799	p.Asp2850Gly	RCV000325059	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37138801T>C	ClinVar
CPLANE1	Q9H799	p.Ile2851Val	rs1464182324	missense variant	-	NC_000005.10:g.37138799T>C	TOPMed
CPLANE1	Q9H799	p.Ile2852Val	rs1305021238	missense variant	-	NC_000005.10:g.37138796T>C	gnomAD
CPLANE1	Q9H799	p.Ile2852Thr	rs765933233	missense variant	-	NC_000005.10:g.37138795A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2855Phe	rs1254666516	missense variant	-	NC_000005.10:g.37138787G>A	TOPMed
CPLANE1	Q9H799	p.Ile2857Asn	rs1463191144	missense variant	-	NC_000005.10:g.37138780A>T	gnomAD
CPLANE1	Q9H799	p.Ile2857Val	rs1291503086	missense variant	-	NC_000005.10:g.37138781T>C	gnomAD
CPLANE1	Q9H799	p.Lys2858Glu	rs1356697325	missense variant	-	NC_000005.10:g.37138778T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2858Ter	rs1356697325	stop gained	-	NC_000005.10:g.37138778T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2860Arg	rs764611797	missense variant	-	NC_000005.10:g.37138772C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2861Leu	rs1388792860	missense variant	-	NC_000005.10:g.37138769C>G	gnomAD
CPLANE1	Q9H799	p.Ser2862Cys	rs1454812528	missense variant	-	NC_000005.10:g.37138765G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2862Pro	rs139554617	missense variant	-	NC_000005.10:g.37138766A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2863Gly	rs775613776	missense variant	-	NC_000005.10:g.37138763T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2863Arg	rs770084934	missense variant	-	NC_000005.10:g.37138761A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2866Phe	rs1481722112	missense variant	-	NC_000005.10:g.37138754G>A	gnomAD
CPLANE1	Q9H799	p.Gly2867Ser	rs553622028	missense variant	-	NC_000005.10:g.37138751C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2870Ter	RCV000432168	nonsense	-	NC_000005.10:g.37138742C>A	ClinVar
CPLANE1	Q9H799	p.Glu2870Ter	rs863225155	stop gained	-	NC_000005.10:g.37138742C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2872Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37138736C>T	NCI-TCGA
CPLANE1	Q9H799	p.Met2873Val	RCV000646720	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37138733T>C	ClinVar
CPLANE1	Q9H799	p.Met2873Val	rs143626904	missense variant	-	NC_000005.10:g.37138733T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2873Val	RCV000178585	missense variant	-	NC_000005.10:g.37138733T>C	ClinVar
CPLANE1	Q9H799	p.Gly2874Asp	COSM4816663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37138729C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg2877Gly	rs953624404	missense variant	-	NC_000005.10:g.37138721T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2879Lys	rs760841610	missense variant	-	NC_000005.10:g.37125405G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2879Ter	rs760841610	stop gained	-	NC_000005.10:g.37125405G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2880Leu	rs1014698599	missense variant	-	NC_000005.10:g.37125401T>A	TOPMed
CPLANE1	Q9H799	p.His2880Arg	rs1014698599	missense variant	-	NC_000005.10:g.37125401T>C	TOPMed
CPLANE1	Q9H799	p.Tyr2881Asp	rs1449414767	missense variant	-	NC_000005.10:g.37125399A>C	TOPMed
CPLANE1	Q9H799	p.Ser2886Leu	rs773296645	missense variant	-	NC_000005.10:g.37125383G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2887Ter	rs1376344855	stop gained	-	NC_000005.10:g.37125381G>A	TOPMed
CPLANE1	Q9H799	p.Arg2888Ser	rs1227285224	missense variant	-	NC_000005.10:g.37125376T>G	TOPMed
CPLANE1	Q9H799	p.Thr2889Ala	COSM3615969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37125375T>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Thr2889Ile	rs778535345	missense variant	-	NC_000005.10:g.37125374G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2890His	RCV000378615	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37125372C>G	ClinVar
CPLANE1	Q9H799	p.Asp2890His	rs761880579	missense variant	-	NC_000005.10:g.37125372C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2890Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37125372C>T	NCI-TCGA
CPLANE1	Q9H799	p.Lys2891Arg	rs774142742	missense variant	-	NC_000005.10:g.37125368T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2892Gly	rs1257200720	missense variant	-	NC_000005.10:g.37125365T>C	TOPMed
CPLANE1	Q9H799	p.Arg2893Lys	rs757658944	missense variant	-	NC_000005.10:g.37125362C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2893Ser	rs1366512924	missense variant	-	NC_000005.10:g.37125361T>A	gnomAD
CPLANE1	Q9H799	p.Arg2894Thr	COSM4853434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37125359C>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg2894Gly	rs769590748	missense variant	-	NC_000005.10:g.37125360T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2894Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37125359C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ile2896Thr	rs1235702604	missense variant	-	NC_000005.10:g.37125353A>G	TOPMed
CPLANE1	Q9H799	p.Trp2899Ter	rs1482303814	stop gained	-	NC_000005.10:g.37125344C>T	TOPMed
CPLANE1	Q9H799	p.Trp2899Ter	RCV000785944	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125344C>T	ClinVar
CPLANE1	Q9H799	p.Met2900Ile	COSM3828023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37125340C>T	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Met2900Lys	rs993541635	missense variant	-	NC_000005.10:g.37125341A>T	TOPMed
CPLANE1	Q9H799	p.Arg2902Ser	rs1396778803	missense variant	-	NC_000005.10:g.37125334T>A	gnomAD
CPLANE1	Q9H799	p.Arg2904Ter	RCV000523918	nonsense	-	NC_000005.10:g.37125330G>A	ClinVar
CPLANE1	Q9H799	p.Arg2904Ter	rs141507441	stop gained	-	NC_000005.10:g.37125330G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2904Gln	rs533791946	missense variant	-	NC_000005.10:g.37125329C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2904Ter	RCV000201591	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125330G>A	ClinVar
CPLANE1	Q9H799	p.Glu2906Ter	RCV000201530	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125324C>A	ClinVar
CPLANE1	Q9H799	p.Glu2906Ter	rs863225153	stop gained	-	NC_000005.10:g.37125324C>A	-
CPLANE1	Q9H799	p.Glu2906Gly	rs1388357376	missense variant	-	NC_000005.10:g.37125323T>C	gnomAD
CPLANE1	Q9H799	p.Arg2907TrpPheSerTerUnk	COSM1067749	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37125318_37125321TTCT>-	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Arg2907Gly	rs756716882	missense variant	-	NC_000005.10:g.37125321T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2908Thr	rs753301470	missense variant	-	NC_000005.10:g.37125317A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2909Ter	RCV000201559	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125316del	ClinVar
CPLANE1	Q9H799	p.Tyr2911Cys	rs374005945	missense variant	-	NC_000005.10:g.37125308T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2915Met	rs1455247765	missense variant	-	NC_000005.10:g.37125297G>T	gnomAD
CPLANE1	Q9H799	p.Leu2915Pro	rs1178837081	missense variant	-	NC_000005.10:g.37125296A>G	TOPMed
CPLANE1	Q9H799	p.Ala2916Glu	rs1192066775	missense variant	-	NC_000005.10:g.37125293G>T	gnomAD
CPLANE1	Q9H799	p.Ala2916Thr	rs369585190	missense variant	-	NC_000005.10:g.37125294C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2920Val	rs776510943	missense variant	-	NC_000005.10:g.37125281C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2920Glu	rs776510943	missense variant	-	NC_000005.10:g.37125281C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2922Val	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37125275T>A	NCI-TCGA
CPLANE1	Q9H799	p.Glu2922Lys	rs1288213208	missense variant	-	NC_000005.10:g.37125276C>T	gnomAD
CPLANE1	Q9H799	p.His2923Arg	rs767695592	missense variant	-	NC_000005.10:g.37125272T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2923Tyr	rs547705616	missense variant	-	NC_000005.10:g.37125273G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2925Leu	COSM737890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37125266G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro2925His	rs113008648	missense variant	-	NC_000005.10:g.37125266G>T	gnomAD
CPLANE1	Q9H799	p.Pro2928Ser	rs1275477780	missense variant	-	NC_000005.10:g.37125258G>A	gnomAD
CPLANE1	Q9H799	p.Arg2929Ter	RCV000646712	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37125255T>A	ClinVar
CPLANE1	Q9H799	p.Arg2929Ter	rs1345413118	stop gained	-	NC_000005.10:g.37125255T>A	TOPMed
CPLANE1	Q9H799	p.Arg2929Gly	rs1345413118	missense variant	-	NC_000005.10:g.37125255T>C	TOPMed
CPLANE1	Q9H799	p.Ser2930Thr	rs1436064006	missense variant	-	NC_000005.10:g.37125251C>G	gnomAD
CPLANE1	Q9H799	p.Asn2931Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37125247A>C	NCI-TCGA
CPLANE1	Q9H799	p.Asn2931Ser	rs774388863	missense variant	-	NC_000005.10:g.37125248T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn2931Asp	rs1330650709	missense variant	-	NC_000005.10:g.37125249T>C	gnomAD
CPLANE1	Q9H799	p.Pro2932Leu	rs201423077	missense variant	-	NC_000005.10:g.37125245G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2933Pro	COSM482787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37122487A>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Met2935Leu	rs775563318	missense variant	-	NC_000005.10:g.37122482T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2935Val	rs775563318	missense variant	-	NC_000005.10:g.37122482T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2938Lys	rs1469826743	missense variant	-	NC_000005.10:g.37122472C>T	TOPMed
CPLANE1	Q9H799	p.Arg2938Gly	rs1210023199	missense variant	-	NC_000005.10:g.37122473T>C	gnomAD
CPLANE1	Q9H799	p.Ile2940Thr	rs759378976	missense variant	-	NC_000005.10:g.37122466A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2941Thr	rs1229286937	missense variant	-	NC_000005.10:g.37122463C>G	gnomAD
CPLANE1	Q9H799	p.Arg2941Ser	rs924779439	missense variant	-	NC_000005.10:g.37122462C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2944Glu	rs1234849009	missense variant	-	NC_000005.10:g.37122455G>C	gnomAD
CPLANE1	Q9H799	p.Lys2945Glu	rs1379815651	missense variant	-	NC_000005.10:g.37122452T>C	gnomAD
CPLANE1	Q9H799	p.Lys2945Ter	RCV000545225	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37122454del	ClinVar
CPLANE1	Q9H799	p.Met2946Thr	rs148987541	missense variant	-	NC_000005.10:g.37122448A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2949Lys	rs374386158	missense variant	-	NC_000005.10:g.37122440C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2952Gly	RCV000764605	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37122431T>C	ClinVar
CPLANE1	Q9H799	p.Arg2952Gly	RCV000426156	missense variant	-	NC_000005.10:g.37122431T>C	ClinVar
CPLANE1	Q9H799	p.Arg2952Gly	RCV000263974	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37122431T>C	ClinVar
CPLANE1	Q9H799	p.Arg2952Gly	rs116198390	missense variant	-	NC_000005.10:g.37122431T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2954Pro	rs1327570168	missense variant	-	NC_000005.10:g.37121779A>G	gnomAD
CPLANE1	Q9H799	p.Leu2955Phe	rs758537775	missense variant	-	NC_000005.10:g.37121777G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2956Phe	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37121773G>A	NCI-TCGA
CPLANE1	Q9H799	p.Glu2957Lys	rs200358545	missense variant	-	NC_000005.10:g.37121771C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2957Gln	rs200358545	missense variant	-	NC_000005.10:g.37121771C>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2958Leu	rs753593935	missense variant	-	NC_000005.10:g.37121767T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2958Arg	rs753593935	missense variant	-	NC_000005.10:g.37121767T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr2959Cys	rs143453963	missense variant	-	NC_000005.10:g.37121764T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.TyrSer2959Ter	rs781525957	stop gained	-	NC_000005.10:g.37121764_37121765del	ExAC
CPLANE1	Q9H799	p.Ser2960Cys	rs760313941	missense variant	-	NC_000005.10:g.37121762T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2961His	rs771622959	missense variant	-	NC_000005.10:g.37121758C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2961Cys	rs138862600	missense variant	-	NC_000005.10:g.37121759G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2962Gln	rs1264659510	missense variant	-	NC_000005.10:g.37121755C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2962Ter	rs150242262	stop gained	-	NC_000005.10:g.37121756G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2963Phe	rs1219035432	missense variant	-	NC_000005.10:g.37121753T>A	gnomAD
CPLANE1	Q9H799	p.Ala2966Thr	rs1204050098	missense variant	-	NC_000005.10:g.37121744C>T	TOPMed
CPLANE1	Q9H799	p.Ala2966Val	rs1227556127	missense variant	-	NC_000005.10:g.37121743G>A	gnomAD
CPLANE1	Q9H799	p.Tyr2967Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37121739_37121740insCCCAGTTATGCTCATTCAGCTGTAGCTACTAT	NCI-TCGA
CPLANE1	Q9H799	p.Gly2968Ser	rs540797695	missense variant	-	NC_000005.10:g.37121738C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2968Cys	rs540797695	missense variant	-	NC_000005.10:g.37121738C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2970Ile	rs921440177	missense variant	-	NC_000005.10:g.37121730C>T	TOPMed
CPLANE1	Q9H799	p.Asn2971Lys	rs573500656	missense variant	-	NC_000005.10:g.37121727A>T	1000Genomes
CPLANE1	Q9H799	p.Glu2972AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37121724T>-	NCI-TCGA
CPLANE1	Q9H799	p.Leu2973Pro	rs771321110	missense variant	-	NC_000005.10:g.37121722A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2975Ter	RCV000178670	frameshift	-	NC_000005.10:g.37121717del	ClinVar
CPLANE1	Q9H799	p.Ser2977Leu	COSM256062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37121710G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln2979Arg	rs1388428909	missense variant	-	NC_000005.10:g.37121704T>C	gnomAD
CPLANE1	Q9H799	p.Thr2982Ala	rs1189688089	missense variant	-	NC_000005.10:g.37121696T>C	gnomAD
CPLANE1	Q9H799	p.Pro2984Gln	rs779085289	missense variant	-	NC_000005.10:g.37121689G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2987Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37121680G>A	NCI-TCGA
CPLANE1	Q9H799	p.Leu2988Ser	rs1204398118	missense variant	-	NC_000005.10:g.37121677A>G	gnomAD
CPLANE1	Q9H799	p.Pro2992Leu	rs766147646	missense variant	-	NC_000005.10:g.37121665G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2993Arg	rs1298825292	missense variant	-	NC_000005.10:g.37121661G>T	gnomAD
CPLANE1	Q9H799	p.Thr2995Ile	rs767189816	missense variant	-	NC_000005.10:g.37121656G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2996Arg	rs1348541209	missense variant	-	NC_000005.10:g.37121653T>C	gnomAD
CPLANE1	Q9H799	p.Ser2997Phe	COSM3615967	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37121650G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser2998Cys	rs557372169	missense variant	-	NC_000005.10:g.37121647G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3002Asp	rs1466675239	missense variant	-	NC_000005.10:g.37121636G>C	gnomAD
CPLANE1	Q9H799	p.Cys3003Tyr	rs1174281544	missense variant	-	NC_000005.10:g.37121632C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys3003Phe	rs1174281544	missense variant	-	NC_000005.10:g.37121632C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys3003Gly	rs760027584	missense variant	-	NC_000005.10:g.37121633A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3004Ala	rs919902868	missense variant	-	NC_000005.10:g.37121630G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3004Arg	rs1412478483	missense variant	-	NC_000005.10:g.37121629G>C	gnomAD
CPLANE1	Q9H799	p.Pro3004Thr	rs919902868	missense variant	-	NC_000005.10:g.37121630G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3006Ala	rs1181129895	missense variant	-	NC_000005.10:g.37121624G>C	gnomAD
CPLANE1	Q9H799	p.Arg3007Lys	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37121620C>T	NCI-TCGA
CPLANE1	Q9H799	p.Gly3008Glu	rs777181922	missense variant	-	NC_000005.10:g.37121617C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.His3012Arg	rs763568516	missense variant	-	NC_000005.10:g.37120329T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His3014Arg	rs1437287502	missense variant	-	NC_000005.10:g.37120323T>C	gnomAD
CPLANE1	Q9H799	p.Ser3015Gly	rs1366020937	missense variant	-	NC_000005.10:g.37120321T>C	gnomAD
CPLANE1	Q9H799	p.Ser3015Asn	rs762501521	missense variant	-	NC_000005.10:g.37120320C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu3017Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37120315G>T	NCI-TCGA
CPLANE1	Q9H799	p.Ile3018Arg	rs766937227	missense variant	-	NC_000005.10:g.37120311A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn3019Lys	rs761211263	missense variant	-	NC_000005.10:g.37120307A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg3020Gln	rs772495694	missense variant	-	NC_000005.10:g.37120305C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg3020Ter	RCV000357854	nonsense	-	NC_000005.10:g.37120306G>A	ClinVar
CPLANE1	Q9H799	p.Arg3020Ter	RCV000201669	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37120306G>A	ClinVar
CPLANE1	Q9H799	p.Arg3020Ter	RCV000697060	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37120306G>A	ClinVar
CPLANE1	Q9H799	p.Arg3020Ter	rs374144275	stop gained	-	NC_000005.10:g.37120306G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3022Ala	rs376064818	missense variant	-	NC_000005.10:g.37120299C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3022Glu	rs376064818	missense variant	-	NC_000005.10:g.37120299C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3022Arg	rs369676478	missense variant	-	NC_000005.10:g.37120300C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3023Asn	rs1246855644	missense variant	-	NC_000005.10:g.37120295T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3025Glu	rs1186324419	missense variant	-	NC_000005.10:g.37120291T>C	gnomAD
CPLANE1	Q9H799	p.Tyr3026Cys	rs768661673	missense variant	-	NC_000005.10:g.37120287T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Met3027Thr	rs1210751950	missense variant	-	NC_000005.10:g.37120284A>G	gnomAD
CPLANE1	Q9H799	p.Ser3028Ala	rs545791930	missense variant	-	NC_000005.10:g.37120282A>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser3028Thr	rs545791930	missense variant	-	NC_000005.10:g.37120282A>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3030Ser	COSM3919996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37120276G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro3030Leu	rs745740741	missense variant	-	NC_000005.10:g.37120275G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr3032Cys	rs767489407	missense variant	-	NC_000005.10:g.37120269T>C	gnomAD
CPLANE1	Q9H799	p.Ile3033Met	rs757032050	missense variant	-	NC_000005.10:g.37120265G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His3034Arg	rs547370426	missense variant	-	NC_000005.10:g.37120263T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3034Arg	RCV000353311	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37120263T>C	ClinVar
CPLANE1	Q9H799	p.Lys3035Asn	rs1479213208	missense variant	-	NC_000005.10:g.37120259C>A	TOPMed
CPLANE1	Q9H799	p.Ser3038Ala	COSM737892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37120252A>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Ser3038Tyr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37120251G>T	NCI-TCGA
CPLANE1	Q9H799	p.Phe3039Ser	rs1363467509	missense variant	-	NC_000005.10:g.37120248A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe3039Leu	rs1386068597	missense variant	-	NC_000005.10:g.37120249A>G	gnomAD
CPLANE1	Q9H799	p.Phe3039Leu	rs763770473	missense variant	-	NC_000005.10:g.37120247A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3040Glu	rs1458270148	missense variant	-	NC_000005.10:g.37120245C>T	TOPMed
CPLANE1	Q9H799	p.Gln3041Ter	NCI-TCGA novel	stop gained	-	NC_000005.10:g.37120243G>A	NCI-TCGA
CPLANE1	Q9H799	p.Gln3043Glu	rs752271088	missense variant	-	NC_000005.10:g.37120237G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3044Arg	rs764590602	missense variant	-	NC_000005.10:g.37120234C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser3045Leu	rs761266412	missense variant	-	NC_000005.10:g.37120230G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3046Arg	COSM482785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37120227G>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro3046Ala	rs773845456	missense variant	-	NC_000005.10:g.37120228G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3046Leu	rs1197722149	missense variant	-	NC_000005.10:g.37120227G>A	gnomAD
CPLANE1	Q9H799	p.Trp3047Ter	rs762241209	stop gained	-	NC_000005.10:g.37120224C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3048Ser	COSM1437321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37120222G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro3048Leu	rs1207975219	missense variant	-	NC_000005.10:g.37120221G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3048Arg	rs1207975219	missense variant	-	NC_000005.10:g.37120221G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.His3049Tyr	rs145378102	missense variant	-	NC_000005.10:g.37120219G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3049Arg	rs1274026508	missense variant	-	NC_000005.10:g.37120218T>C	gnomAD
CPLANE1	Q9H799	p.Thr3053Ala	rs1279382736	missense variant	-	NC_000005.10:g.37115041T>C	gnomAD
CPLANE1	Q9H799	p.Phe3054Val	COSM3855057	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37115038A>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gln3057Arg	rs768173950	missense variant	-	NC_000005.10:g.37115028T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3058Arg	rs1228711864	missense variant	-	NC_000005.10:g.37115025T>C	gnomAD
CPLANE1	Q9H799	p.Lys3059Asn	rs368603190	missense variant	-	NC_000005.10:g.37115021T>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3059Arg	rs1349649894	missense variant	-	NC_000005.10:g.37115022T>C	gnomAD
CPLANE1	Q9H799	p.Ala3060SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000005.10:g.37115020_37115021insT	NCI-TCGA
CPLANE1	Q9H799	p.Gly3062Val	COSM1311131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37115013C>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gly3062Arg	RCV000314718	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37115014C>T	ClinVar
CPLANE1	Q9H799	p.Gly3062Arg	rs7702892	missense variant	-	NC_000005.10:g.37115014C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg3068Lys	rs1332890054	missense variant	-	NC_000005.10:g.37114995C>T	gnomAD
CPLANE1	Q9H799	p.Arg3068Gly	rs764300212	missense variant	-	NC_000005.10:g.37114996T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala3070Val	rs372396805	missense variant	-	NC_000005.10:g.37114989G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3071Ala	rs1185646161	missense variant	-	NC_000005.10:g.37114987T>C	TOPMed
CPLANE1	Q9H799	p.Thr3071Met	rs775560336	missense variant	-	NC_000005.10:g.37114986G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln3072Ter	rs759580516	stop gained	-	NC_000005.10:g.37114984G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln3072Arg	rs1171652500	missense variant	-	NC_000005.10:g.37114983T>C	TOPMed
CPLANE1	Q9H799	p.Ser3073Cys	rs1374830797	missense variant	-	NC_000005.10:g.37114980G>C	TOPMed
CPLANE1	Q9H799	p.Pro3074Ala	rs975378346	missense variant	-	NC_000005.10:g.37114978G>C	TOPMed
CPLANE1	Q9H799	p.Pro3074Leu	rs1319142896	missense variant	-	NC_000005.10:g.37114977G>A	TOPMed
CPLANE1	Q9H799	p.Val3075Ala	rs1347117644	missense variant	-	NC_000005.10:g.37114974A>G	TOPMed
CPLANE1	Q9H799	p.Thr3076Ala	rs1407685518	missense variant	-	NC_000005.10:g.37114972T>C	gnomAD
CPLANE1	Q9H799	p.Thr3076Ile	rs554956977	missense variant	-	NC_000005.10:g.37114971G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3076Asn	rs554956977	missense variant	-	NC_000005.10:g.37114971G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln3078Arg	rs770872753	missense variant	-	NC_000005.10:g.37114965T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln3078His	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37114964T>G	NCI-TCGA
CPLANE1	Q9H799	p.Gly3080Val	rs774240051	missense variant	-	NC_000005.10:g.37108471C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3080Ser	rs746860595	missense variant	-	NC_000005.10:g.37114960C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3080Asp	rs774240051	missense variant	-	NC_000005.10:g.37108471C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser3081Cys	COSM3828021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37108468G>C	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Asn3082Lys	rs538381493	missense variant	-	NC_000005.10:g.37108464A>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3084Ser	COSM2688117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37108460G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Pro3084Leu	rs747597826	missense variant	-	NC_000005.10:g.37108459G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3084Ala	rs144467995	missense variant	-	NC_000005.10:g.37108460G>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3084Gln	rs747597826	missense variant	-	NC_000005.10:g.37108459G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys3085Arg	rs1417559748	missense variant	-	NC_000005.10:g.37108457A>G	gnomAD
CPLANE1	Q9H799	p.His3086Pro	rs1193137338	missense variant	-	NC_000005.10:g.37108453T>G	gnomAD
CPLANE1	Q9H799	p.Ser3087Ile	rs371000717	missense variant	-	NC_000005.10:g.37108450C>A	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser3087Gly	rs941718545	missense variant	-	NC_000005.10:g.37108451T>C	gnomAD
CPLANE1	Q9H799	p.Leu3088Pro	rs1483973488	missense variant	-	NC_000005.10:g.37108447A>G	gnomAD
CPLANE1	Q9H799	p.Gln3089Ter	rs755197162	stop gained	-	NC_000005.10:g.37108445G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln3089Lys	rs755197162	missense variant	-	NC_000005.10:g.37108445G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.His3090Gln	rs1219414305	missense variant	-	NC_000005.10:g.37108440A>T	gnomAD
CPLANE1	Q9H799	p.His3090Arg	rs754053320	missense variant	-	NC_000005.10:g.37108441T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3091Ala	rs766501293	missense variant	-	NC_000005.10:g.37108439T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr3091Ile	rs1302870757	missense variant	-	NC_000005.10:g.37108438G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3091Lys	rs1302870757	missense variant	-	NC_000005.10:g.37108438G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3092Arg	rs1372872191	missense variant	-	NC_000005.10:g.37108435T>C	gnomAD
CPLANE1	Q9H799	p.Lys3093AsnPheSerTerUnkUnk	COSM1437319	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37108431T>-	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.His3094ThrPheSerTerUnkUnk	COSM5978970	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.37108430_37108431insT	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.His3094Arg	rs773303691	missense variant	-	NC_000005.10:g.37108429T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His3094Tyr	rs760642862	missense variant	-	NC_000005.10:g.37108430G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3095Glu	rs148666740	missense variant	-	NC_000005.10:g.37108426C>T	ESP,gnomAD
CPLANE1	Q9H799	p.Ser3096Thr	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37108423C>G	NCI-TCGA
CPLANE1	Q9H799	p.Gly3098Arg	RCV000514597	missense variant	-	NC_000005.10:g.37108418C>T	ClinVar
CPLANE1	Q9H799	p.Gly3098Arg	rs144081297	missense variant	-	NC_000005.10:g.37108418C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3098Arg	RCV000417768	missense variant	-	NC_000005.10:g.37108418C>T	ClinVar
CPLANE1	Q9H799	p.Leu3099Phe	rs1428377660	missense variant	-	NC_000005.10:g.37108415G>A	gnomAD
CPLANE1	Q9H799	p.Gln3102Glu	rs774297305	missense variant	-	NC_000005.10:g.37108406G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln3102Arg	rs768570313	missense variant	-	NC_000005.10:g.37108405T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg3112Gly	rs1222002652	missense variant	-	NC_000005.10:g.37108376T>C	gnomAD
CPLANE1	Q9H799	p.Thr3115Ser	rs1289574396	missense variant	-	NC_000005.10:g.37108366G>C	gnomAD
CPLANE1	Q9H799	p.Val3116Met	rs1394451975	missense variant	-	NC_000005.10:g.37108364C>T	gnomAD
CPLANE1	Q9H799	p.Pro3119Ser	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37108355G>A	NCI-TCGA
CPLANE1	Q9H799	p.Thr3121Met	rs587783354	missense variant	-	NC_000005.10:g.37108348G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3121Met	RCV000145389	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37108348G>A	ClinVar
CPLANE1	Q9H799	p.Pro3123Ser	rs1405549842	missense variant	-	NC_000005.10:g.37108343G>A	gnomAD
CPLANE1	Q9H799	p.His3127Arg	rs144698212	missense variant	-	NC_000005.10:g.37108330T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3127Pro	rs144698212	missense variant	-	NC_000005.10:g.37108330T>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3127Tyr	rs748587449	missense variant	-	NC_000005.10:g.37108331G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu3130Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37108322G>T	NCI-TCGA
CPLANE1	Q9H799	p.His3131Leu	rs373643291	missense variant	-	NC_000005.10:g.37108318T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3131Pro	rs373643291	missense variant	-	NC_000005.10:g.37108318T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser3133Ile	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37108312C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ser3133Asn	rs756312234	missense variant	-	NC_000005.10:g.37108312C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.His3134Arg	rs917196481	missense variant	-	NC_000005.10:g.37108309T>C	TOPMed
CPLANE1	Q9H799	p.Asn3135Asp	rs1257693653	missense variant	-	NC_000005.10:g.37108307T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn3135Tyr	rs1257693653	missense variant	-	NC_000005.10:g.37108307T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu3138Val	rs886060572	missense variant	-	NC_000005.10:g.37108298G>C	TOPMed
CPLANE1	Q9H799	p.Leu3138Val	RCV000394029	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37108298G>C	ClinVar
CPLANE1	Q9H799	p.Asp3140Asn	rs968530806	missense variant	-	NC_000005.10:g.37107778C>T	TOPMed
CPLANE1	Q9H799	p.Asp3140Gly	rs1247311236	missense variant	-	NC_000005.10:g.37107777T>C	gnomAD
CPLANE1	Q9H799	p.Leu3141Ser	rs780408914	missense variant	-	NC_000005.10:g.37107774A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3143Thr	rs1355287428	missense variant	-	NC_000005.10:g.37107769G>T	TOPMed
CPLANE1	Q9H799	p.Thr3144Ala	rs1437586068	missense variant	-	NC_000005.10:g.37107766T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu3150Gly	rs1380367906	missense variant	-	NC_000005.10:g.37107747T>C	gnomAD
CPLANE1	Q9H799	p.Glu3150Ter	rs1317390469	stop gained	-	NC_000005.10:g.37107748C>A	gnomAD
CPLANE1	Q9H799	p.Pro3152Ser	COSM3615965	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37107742G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Val3155Met	rs1392607136	missense variant	-	NC_000005.10:g.37107733C>T	gnomAD
CPLANE1	Q9H799	p.Gly3157Ser	rs750657907	missense variant	-	NC_000005.10:g.37107727C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3157Asp	rs1353383169	missense variant	-	NC_000005.10:g.37107726C>T	gnomAD
CPLANE1	Q9H799	p.Val3158Met	rs1278842470	missense variant	-	NC_000005.10:g.37107724C>T	TOPMed
CPLANE1	Q9H799	p.Val3158Ter	RCV000368416	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37107725dup	ClinVar
CPLANE1	Q9H799	p.Asp3159Gly	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37107720T>C	NCI-TCGA
CPLANE1	Q9H799	p.Val3161Met	rs757393817	missense variant	-	NC_000005.10:g.37107715C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3165Pro	COSM6103733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37107703T>G	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Gly3166Val	rs868031510	missense variant	-	NC_000005.10:g.37107699C>A	gnomAD
CPLANE1	Q9H799	p.Gly3166Asp	rs868031510	missense variant	-	NC_000005.10:g.37107699C>T	gnomAD
CPLANE1	Q9H799	p.Gly3166Cys	rs1445678153	missense variant	-	NC_000005.10:g.37107700C>A	gnomAD
CPLANE1	Q9H799	p.Lys3171Arg	rs1230624615	missense variant	-	NC_000005.10:g.37107684T>C	gnomAD
CPLANE1	Q9H799	p.Lys3171Glu	rs762932228	missense variant	-	NC_000005.10:g.37107685T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp3173Tyr	rs374776325	missense variant	-	NC_000005.10:g.37107679C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp3174Ter	rs759178721	stop gained	-	NC_000005.10:g.37107674C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Trp3174Arg	rs577380148	missense variant	-	NC_000005.10:g.37107676A>G	1000Genomes
CPLANE1	Q9H799	p.Trp3174Cys	rs759178721	missense variant	-	NC_000005.10:g.37107674C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala3176Ser	rs1421414177	missense variant	-	NC_000005.10:g.37107670C>A	TOPMed
CPLANE1	Q9H799	p.Ala3176Ser	RCV000537824	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37107670C>A	ClinVar
CPLANE1	Q9H799	p.Ile3177Val	rs1004303690	missense variant	-	NC_000005.10:g.37107667T>C	TOPMed
CPLANE1	Q9H799	p.Ile3177Met	rs1332636319	missense variant	-	NC_000005.10:g.37107665G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu3178Lys	rs372215544	missense variant	-	NC_000005.10:g.37107664C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met3180Val	rs770395082	missense variant	-	NC_000005.10:g.37107658T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met3180Leu	rs770395082	missense variant	-	NC_000005.10:g.37107658T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val3181Glu	rs760144874	missense variant	-	NC_000005.10:g.37107654A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala3182Thr	rs772662201	missense variant	-	NC_000005.10:g.37107652C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser3183Gly	rs769165676	missense variant	-	NC_000005.10:g.37107649T>C	ExAC
CPLANE1	Q9H799	p.Val3184Met	rs780349375	missense variant	-	NC_000005.10:g.37107646C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu3185Gly	rs1280596879	missense variant	-	NC_000005.10:g.37107642T>C	TOPMed
CPLANE1	Q9H799	p.Ser3190Cys	rs781448726	missense variant	-	NC_000005.10:g.37107627G>C	ExAC
CPLANE1	Q9H799	p.Ser3190Phe	rs781448726	missense variant	-	NC_000005.10:g.37107627G>A	ExAC
CPLANE1	Q9H799	p.Ser3190Ala	rs368852403	missense variant	-	NC_000005.10:g.37107628A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser3190Pro	rs368852403	missense variant	-	NC_000005.10:g.37107628A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3192Tyr	COSM4999884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.37107622G>A	NCI-TCGA Cosmic
CPLANE1	Q9H799	p.Trp3193Leu	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37107618C>A	NCI-TCGA
CPLANE1	Q9H799	p.Ala3194Thr	rs375441199	missense variant	-	NC_000005.10:g.37107616C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala3194Ser	rs375441199	missense variant	-	NC_000005.10:g.37107616C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp3196Asn	NCI-TCGA novel	missense variant	-	NC_000005.10:g.37107610C>T	NCI-TCGA
CPLANE1	Q9H799	p.Ter3198Gln	rs1267447258	stop lost	-	NC_000005.10:g.37107604A>G	gnomAD
CPLANE1	Q9H799	p.Ile3Arg	rs1293975447	missense variant	-	NC_000005.10:g.37247691A>C	TOPMed
CPLANE1	Q9H799	p.Leu8Phe	rs1392344659	missense variant	-	NC_000005.10:g.37247675C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr11Arg	rs1229933956	missense variant	-	NC_000005.10:g.37247667G>C	TOPMed
CPLANE1	Q9H799	p.Gly12Asp	rs1189651175	missense variant	-	NC_000005.10:g.37247664C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys17Asn	rs1204887886	missense variant	-	NC_000005.10:g.37247648T>G	TOPMed
CPLANE1	Q9H799	p.Lys17Thr	rs1450990239	missense variant	-	NC_000005.10:g.37247649T>G	TOPMed
CPLANE1	Q9H799	p.Trp19Ter	RCV000342484	nonsense	-	NC_000005.10:g.37247642C>T	ClinVar
CPLANE1	Q9H799	p.Trp19Ter	rs886041966	stop gained	-	NC_000005.10:g.37247642C>T	-
CPLANE1	Q9H799	p.Arg21Cys	rs376687322	missense variant	-	NC_000005.10:g.37247638G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg21His	rs1215626789	missense variant	-	NC_000005.10:g.37247637C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly26Val	rs776857821	missense variant	-	NC_000005.10:g.37247622C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly26Arg	rs1163835747	missense variant	-	NC_000005.10:g.37247623C>T	gnomAD
CPLANE1	Q9H799	p.Lys29Glu	rs985759463	missense variant	-	NC_000005.10:g.37245842T>C	TOPMed
CPLANE1	Q9H799	p.Glu30Ter	rs932952740	stop gained	-	NC_000005.10:g.37245839C>A	TOPMed
CPLANE1	Q9H799	p.Val32Ile	RCV000404490	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37245833C>T	ClinVar
CPLANE1	Q9H799	p.Val32Ile	rs73750959	missense variant	-	NC_000005.10:g.37245833C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val32Phe	rs73750959	missense variant	-	NC_000005.10:g.37245833C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys38Glu	rs749171859	missense variant	-	NC_000005.10:g.37245815T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys38Thr	rs1043094880	missense variant	-	NC_000005.10:g.37245814T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile40Met	rs1339874659	missense variant	-	NC_000005.10:g.37245807T>C	gnomAD
CPLANE1	Q9H799	p.Ile40Leu	rs1204171955	missense variant	-	NC_000005.10:g.37245809T>A	gnomAD
CPLANE1	Q9H799	p.Ile40Val	rs1204171955	missense variant	-	NC_000005.10:g.37245809T>C	gnomAD
CPLANE1	Q9H799	p.Ile43Phe	rs779643193	missense variant	-	NC_000005.10:g.37245800T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile43Val	rs779643193	missense variant	-	NC_000005.10:g.37245800T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu45Phe	rs755773138	missense variant	-	NC_000005.10:g.37245792C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser47Thr	rs952769625	missense variant	-	NC_000005.10:g.37245788A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile50Leu	rs1397093792	missense variant	-	NC_000005.10:g.37245779T>A	TOPMed
CPLANE1	Q9H799	p.Pro55Ser	rs1392679014	missense variant	-	NC_000005.10:g.37245764G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu57Met	rs1350721964	missense variant	-	NC_000005.10:g.37245758G>T	gnomAD
CPLANE1	Q9H799	p.Gln58Ter	rs921380949	stop gained	-	NC_000005.10:g.37245755G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln58Lys	rs921380949	missense variant	-	NC_000005.10:g.37245755G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro59Ala	rs1307084274	missense variant	-	NC_000005.10:g.37245752G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe60Leu	rs1427434547	missense variant	-	NC_000005.10:g.37245749A>G	gnomAD
CPLANE1	Q9H799	p.Leu61Ser	rs750040861	missense variant	-	NC_000005.10:g.37245745A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Val64Ile	rs965197100	missense variant	-	NC_000005.10:g.37245737C>T	TOPMed
CPLANE1	Q9H799	p.Ile65Thr	rs912446274	missense variant	-	NC_000005.10:g.37245733A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val66Phe	rs1466959461	missense variant	-	NC_000005.10:g.37245731C>A	gnomAD
CPLANE1	Q9H799	p.Thr68Ala	rs1002297986	missense variant	-	NC_000005.10:g.37245725T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr68Ser	rs1002297986	missense variant	-	NC_000005.10:g.37245725T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr69Ala	rs1202271991	missense variant	-	NC_000005.10:g.37245722T>C	TOPMed
CPLANE1	Q9H799	p.Ser70Phe	rs767130412	missense variant	-	NC_000005.10:g.37245718G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser71Asn	rs756811653	missense variant	-	NC_000005.10:g.37245715C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser71Cys	rs1258112096	missense variant	-	NC_000005.10:g.37245716T>A	TOPMed
CPLANE1	Q9H799	p.Asn72Thr	rs1482203832	missense variant	-	NC_000005.10:g.37245712T>G	gnomAD
CPLANE1	Q9H799	p.Ala74Val	RCV000178339	missense variant	-	NC_000005.10:g.37245595G>A	ClinVar
CPLANE1	Q9H799	p.Ala74Ser	rs1239469326	missense variant	-	NC_000005.10:g.37245596C>A	gnomAD
CPLANE1	Q9H799	p.Ala74Val	rs139496915	missense variant	-	NC_000005.10:g.37245595G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala74Gly	rs139496915	missense variant	-	NC_000005.10:g.37245595G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala77Ser	rs1441701659	missense variant	-	NC_000005.10:g.37245587C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly78Val	rs1554117507	missense variant	-	NC_000005.10:g.37245583C>A	-
CPLANE1	Q9H799	p.Gly78Val	RCV000646704	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37245583C>A	ClinVar
CPLANE1	Q9H799	p.Val79Gly	rs1253829684	missense variant	-	NC_000005.10:g.37245580A>C	gnomAD
CPLANE1	Q9H799	p.Thr81Asn	rs1235427864	missense variant	-	NC_000005.10:g.37245574G>T	TOPMed
CPLANE1	Q9H799	p.Thr82Pro	rs1050105014	missense variant	-	NC_000005.10:g.37245572T>G	TOPMed
CPLANE1	Q9H799	p.Thr82Ile	rs1266897653	missense variant	-	NC_000005.10:g.37245571G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly83Ter	rs1554117456	stop gained	-	NC_000005.10:g.37245569C>A	-
CPLANE1	Q9H799	p.Gly83Ter	RCV000622958	nonsense	Inborn genetic diseases	NC_000005.10:g.37245569C>A	ClinVar
CPLANE1	Q9H799	p.Glu84Ter	rs1226086505	stop gained	-	NC_000005.10:g.37245566C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu84Gly	rs1486702562	missense variant	-	NC_000005.10:g.37245565T>C	TOPMed
CPLANE1	Q9H799	p.Glu84Lys	rs1226086505	missense variant	-	NC_000005.10:g.37245566C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys90Glu	rs1184582202	missense variant	-	NC_000005.10:g.37245548T>C	TOPMed
CPLANE1	Q9H799	p.Asp91Asn	rs973795274	missense variant	-	NC_000005.10:g.37245545C>T	-
CPLANE1	Q9H799	p.Asp93Gly	rs1358002555	missense variant	-	NC_000005.10:g.37245538T>C	gnomAD
CPLANE1	Q9H799	p.Pro99Ser	rs772399906	missense variant	-	NC_000005.10:g.37245521G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu102Lys	rs1332623224	missense variant	-	NC_000005.10:g.37245512C>T	gnomAD
CPLANE1	Q9H799	p.Lys105Asn	rs1433411087	missense variant	-	NC_000005.10:g.37245501C>G	TOPMed
CPLANE1	Q9H799	p.Lys109Arg	rs1437839710	missense variant	-	NC_000005.10:g.37245490T>C	gnomAD
CPLANE1	Q9H799	p.Thr111Ala	rs373849750	missense variant	-	NC_000005.10:g.37245485T>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Val112Phe	rs1319932651	missense variant	-	NC_000005.10:g.37245482C>A	gnomAD
CPLANE1	Q9H799	p.Ala113Thr	rs1023404450	missense variant	-	NC_000005.10:g.37245479C>T	gnomAD
CPLANE1	Q9H799	p.Ala113Val	rs534807606	missense variant	-	NC_000005.10:g.37244607G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala113Glu	rs534807606	missense variant	-	NC_000005.10:g.37244607G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu116Met	rs1351635401	missense variant	-	NC_000005.10:g.37244599A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg117Thr	rs1324311439	missense variant	-	NC_000005.10:g.37244595C>G	gnomAD
CPLANE1	Q9H799	p.Tyr121His	RCV000347506	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37244584A>G	ClinVar
CPLANE1	Q9H799	p.Tyr121His	rs886060587	missense variant	-	NC_000005.10:g.37244584A>G	-
CPLANE1	Q9H799	p.Val122Ile	rs1404949478	missense variant	-	NC_000005.10:g.37244581C>T	gnomAD
CPLANE1	Q9H799	p.Ser123Tyr	rs957027661	missense variant	-	NC_000005.10:g.37244577G>T	TOPMed
CPLANE1	Q9H799	p.Asn125Ser	rs766935499	missense variant	-	NC_000005.10:g.37244571T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys127Arg	rs1450489314	missense variant	-	NC_000005.10:g.37244565T>C	TOPMed
CPLANE1	Q9H799	p.Arg128Gly	rs1204623947	missense variant	-	NC_000005.10:g.37244563T>C	TOPMed
CPLANE1	Q9H799	p.Leu131Phe	rs780883640	missense variant	-	NC_000005.10:g.37244554G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile132Val	rs1455402164	missense variant	-	NC_000005.10:g.37244551T>C	gnomAD
CPLANE1	Q9H799	p.Pro134Thr	rs1478974970	missense variant	-	NC_000005.10:g.37244545G>T	gnomAD
CPLANE1	Q9H799	p.Ile138Val	rs1345935478	missense variant	-	NC_000005.10:g.37244533T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu140Ile	rs1246732410	missense variant	-	NC_000005.10:g.37244527G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu142Lys	RCV000500106	missense variant	-	NC_000005.10:g.37244521C>T	ClinVar
CPLANE1	Q9H799	p.Glu142Lys	rs756856188	missense variant	-	NC_000005.10:g.37244521C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr143Cys	rs1410543833	missense variant	-	NC_000005.10:g.37244517T>C	TOPMed
CPLANE1	Q9H799	p.Asn148Thr	rs549015748	missense variant	-	NC_000005.10:g.37244502T>G	1000Genomes,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn148Ser	rs549015748	missense variant	-	NC_000005.10:g.37244502T>C	1000Genomes,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser151Phe	rs1343395272	missense variant	-	NC_000005.10:g.37244493G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys153Glu	rs1213278664	missense variant	-	NC_000005.10:g.37244488T>C	gnomAD
CPLANE1	Q9H799	p.Ala158Val	rs751087543	missense variant	-	NC_000005.10:g.37244472G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg160Trp	rs754258488	missense variant	-	NC_000005.10:g.37244467G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg160Gln	rs766961442	missense variant	-	NC_000005.10:g.37244466C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp161Gly	rs761168338	missense variant	-	NC_000005.10:g.37244464A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser162Ala	rs750802255	missense variant	-	NC_000005.10:g.37244461A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser162Phe	rs767914507	missense variant	-	NC_000005.10:g.37244460G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val164Gly	rs761870769	missense variant	-	NC_000005.10:g.37244454A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile165Thr	rs968241708	missense variant	-	NC_000005.10:g.37244451A>G	TOPMed
CPLANE1	Q9H799	p.Ile165Arg	rs968241708	missense variant	-	NC_000005.10:g.37244451A>C	TOPMed
CPLANE1	Q9H799	p.Ala169Thr	rs1190098989	missense variant	-	NC_000005.10:g.37244440C>T	gnomAD
CPLANE1	Q9H799	p.Val170Phe	rs1015190087	missense variant	-	NC_000005.10:g.37244437C>A	TOPMed
CPLANE1	Q9H799	p.Val170Ala	rs1462893252	missense variant	-	NC_000005.10:g.37244436A>G	TOPMed
CPLANE1	Q9H799	p.Leu171Ter	RCV000201603	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37244436dup	ClinVar
CPLANE1	Q9H799	p.Leu171Ile	rs1004617814	missense variant	-	NC_000005.10:g.37244434G>T	TOPMed
CPLANE1	Q9H799	p.Leu171Ter	RCV000201554	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37244436del	ClinVar
CPLANE1	Q9H799	p.Pro173Arg	rs1253513881	missense variant	-	NC_000005.10:g.37244427G>C	gnomAD
CPLANE1	Q9H799	p.Ser174Cys	rs1475901814	missense variant	-	NC_000005.10:g.37244424G>C	TOPMed
CPLANE1	Q9H799	p.Thr175Ala	rs886060586	missense variant	-	NC_000005.10:g.37244422T>C	TOPMed
CPLANE1	Q9H799	p.Thr175Ala	RCV000408408	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37244422T>C	ClinVar
CPLANE1	Q9H799	p.Glu176Lys	rs964246930	missense variant	-	NC_000005.10:g.37244419C>T	gnomAD
CPLANE1	Q9H799	p.Ala180Thr	rs1202917441	missense variant	-	NC_000005.10:g.37244407C>T	gnomAD
CPLANE1	Q9H799	p.Ala180Asp	rs1314437814	missense variant	-	NC_000005.10:g.37244406G>T	gnomAD
CPLANE1	Q9H799	p.Phe186Leu	rs1280024486	missense variant	-	NC_000005.10:g.37244389A>G	gnomAD
CPLANE1	Q9H799	p.Asn189Lys	rs1334523885	missense variant	-	NC_000005.10:g.37244378A>C	TOPMed
CPLANE1	Q9H799	p.Asn189Ser	rs1018501655	missense variant	-	NC_000005.10:g.37244379T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu197Pro	rs1263716375	missense variant	-	NC_000005.10:g.37243100A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr203Cys	RCV000338303	missense variant	-	NC_000005.10:g.37243082T>C	ClinVar
CPLANE1	Q9H799	p.Tyr203Cys	rs144969169	missense variant	-	NC_000005.10:g.37243082T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly205Arg	rs924258961	missense variant	-	NC_000005.10:g.37243077C>T	TOPMed
CPLANE1	Q9H799	p.Gly205Val	rs1270049075	missense variant	-	NC_000005.10:g.37243076C>A	gnomAD
CPLANE1	Q9H799	p.Glu206Asp	rs978431624	missense variant	-	NC_000005.10:g.37243072T>G	TOPMed
CPLANE1	Q9H799	p.Lys209Arg	RCV000350861	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37243064T>C	ClinVar
CPLANE1	Q9H799	p.Lys209Arg	rs770630520	missense variant	-	NC_000005.10:g.37243064T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys209Arg	RCV000819192	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37243064T>C	ClinVar
CPLANE1	Q9H799	p.Leu210Val	rs372873088	missense variant	-	NC_000005.10:g.37243062A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu210Ter	rs1401666590	stop gained	-	NC_000005.10:g.37243061A>T	TOPMed
CPLANE1	Q9H799	p.Phe212Cys	rs1467507075	missense variant	-	NC_000005.10:g.37243055A>C	TOPMed
CPLANE1	Q9H799	p.Ile215Phe	rs1305198780	missense variant	-	NC_000005.10:g.37243047T>A	gnomAD
CPLANE1	Q9H799	p.Arg216Trp	rs543556323	missense variant	-	NC_000005.10:g.37243044G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg216Gln	rs1379533613	missense variant	-	NC_000005.10:g.37243043C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp217Ter	rs752753204	stop gained	-	NC_000005.10:g.37243039C>T	gnomAD
CPLANE1	Q9H799	p.His218Tyr	rs1450311906	missense variant	-	NC_000005.10:g.37243038G>A	gnomAD
CPLANE1	Q9H799	p.His218Arg	rs974974781	missense variant	-	NC_000005.10:g.37243037T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu219Asp	rs777375643	missense variant	-	NC_000005.10:g.37243033C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val221Ala	RCV000296197	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37243028A>G	ClinVar
CPLANE1	Q9H799	p.Val221Ala	rs370118778	missense variant	-	NC_000005.10:g.37243028A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val221Ile	rs1362686289	missense variant	-	NC_000005.10:g.37243029C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe222Leu	rs1011229827	missense variant	-	NC_000005.10:g.37243026A>G	gnomAD
CPLANE1	Q9H799	p.Phe222Ile	rs1011229827	missense variant	-	NC_000005.10:g.37243026A>T	gnomAD
CPLANE1	Q9H799	p.Ser227Ter	rs1367255493	stop gained	-	NC_000005.10:g.37239867G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro229Thr	rs750818403	missense variant	-	NC_000005.10:g.37239862G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr230Phe	rs913551616	missense variant	-	NC_000005.10:g.37239858T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.His231Arg	rs767930925	missense variant	-	NC_000005.10:g.37239855T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His233Arg	rs1258296079	missense variant	-	NC_000005.10:g.37239849T>C	TOPMed
CPLANE1	Q9H799	p.His233Gln	rs762115051	missense variant	-	NC_000005.10:g.37239848A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp234Ter	RCV000578989	nonsense	-	NC_000005.10:g.37239845C>T	ClinVar
CPLANE1	Q9H799	p.Trp234Ter	rs1554114025	stop gained	-	NC_000005.10:g.37239845C>T	-
CPLANE1	Q9H799	p.Ala235Ser	rs367627463	missense variant	-	NC_000005.10:g.37239844C>A	TOPMed
CPLANE1	Q9H799	p.Ala235Thr	rs367627463	missense variant	-	NC_000005.10:g.37239844C>T	TOPMed
CPLANE1	Q9H799	p.Gln237Ter	rs957588958	stop gained	-	NC_000005.10:g.37239838G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.His240Tyr	rs778771073	missense variant	-	NC_000005.10:g.37239829G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu241Phe	rs1389563176	missense variant	-	NC_000005.10:g.37239826G>A	TOPMed
CPLANE1	Q9H799	p.Cys242Tyr	rs1423193740	missense variant	-	NC_000005.10:g.37239822C>T	gnomAD
CPLANE1	Q9H799	p.Ser243Arg	rs1392560173	missense variant	-	NC_000005.10:g.37239818A>T	gnomAD
CPLANE1	Q9H799	p.Cys248Arg	rs1454775313	missense variant	-	NC_000005.10:g.37239805A>G	TOPMed
CPLANE1	Q9H799	p.Glu249Gln	rs757197770	missense variant	-	NC_000005.10:g.37239802C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu249Ala	rs1428450883	missense variant	-	NC_000005.10:g.37239801T>G	gnomAD
CPLANE1	Q9H799	p.Ser253Leu	rs370977871	missense variant	-	NC_000005.10:g.37239789G>A	1000Genomes,ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly255Ter	rs1193035258	stop gained	-	NC_000005.10:g.37239784C>A	gnomAD
CPLANE1	Q9H799	p.Leu266Ile	rs1275106600	missense variant	-	NC_000005.10:g.37239751G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr271Ala	rs1227513348	missense variant	-	NC_000005.10:g.37239736T>C	gnomAD
CPLANE1	Q9H799	p.Asn273His	RCV000201759	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37239730T>G	ClinVar
CPLANE1	Q9H799	p.Asn273His	rs863225167	missense variant	-	NC_000005.10:g.37239730T>G	-
CPLANE1	Q9H799	p.Asn273Thr	rs1324649536	missense variant	-	NC_000005.10:g.37239729T>G	gnomAD
CPLANE1	Q9H799	p.Pro277His	rs1302725073	missense variant	-	NC_000005.10:g.37239717G>T	gnomAD
CPLANE1	Q9H799	p.Lys278Arg	RCV000785933	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37239714T>C	ClinVar
CPLANE1	Q9H799	p.Lys278Arg	rs566588740	missense variant	-	NC_000005.10:g.37239714T>C	1000Genomes,TOPMed
CPLANE1	Q9H799	p.Val282Ile	rs1009393649	missense variant	-	NC_000005.10:g.37238951C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val282Leu	rs1009393649	missense variant	-	NC_000005.10:g.37238951C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val291Ala	rs369448121	missense variant	-	NC_000005.10:g.37238923A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser296Arg	rs1440857530	missense variant	-	NC_000005.10:g.37238907G>C	TOPMed
CPLANE1	Q9H799	p.Gly299Ter	RCV000723144	nonsense	-	NC_000005.10:g.37238900C>A	ClinVar
CPLANE1	Q9H799	p.Lys303Ter	RCV000690353	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37238887_37238888del	ClinVar
CPLANE1	Q9H799	p.Pro305Ser	rs1248663983	missense variant	-	NC_000005.10:g.37238882G>A	TOPMed
CPLANE1	Q9H799	p.Val306Met	rs776434510	missense variant	-	NC_000005.10:g.37238879C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val306Met	RCV000556883	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37238879C>T	ClinVar
CPLANE1	Q9H799	p.Thr310Ile	rs377351238	missense variant	-	NC_000005.10:g.37238866G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile312Thr	rs763561354	missense variant	-	NC_000005.10:g.37238860A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile312Phe	rs1461276591	missense variant	-	NC_000005.10:g.37238861T>A	TOPMed
CPLANE1	Q9H799	p.Arg313Lys	rs777338237	missense variant	-	NC_000005.10:g.37238857C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr315Cys	rs1200903066	missense variant	-	NC_000005.10:g.37231044T>C	gnomAD
CPLANE1	Q9H799	p.Val317Leu	rs1367504777	missense variant	-	NC_000005.10:g.37231039C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp319His	rs1367576769	missense variant	-	NC_000005.10:g.37231033C>G	TOPMed
CPLANE1	Q9H799	p.Ile320Thr	rs886060584	missense variant	-	NC_000005.10:g.37231029A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile320Thr	RCV000280877	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37231029A>G	ClinVar
CPLANE1	Q9H799	p.Trp322Gly	VAR_076776	Missense	-	-	UniProt
CPLANE1	Q9H799	p.Thr323Met	rs373704405	missense variant	-	NC_000005.10:g.37231020G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr323Met	RCV000180684	missense variant	-	NC_000005.10:g.37231020G>A	ClinVar
CPLANE1	Q9H799	p.Ser326Asn	rs1229752578	missense variant	-	NC_000005.10:g.37231011C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe328Leu	rs1329411806	missense variant	-	NC_000005.10:g.37231006A>G	gnomAD
CPLANE1	Q9H799	p.Met332Val	RCV000612655	missense variant	-	NC_000005.10:g.37230994T>C	ClinVar
CPLANE1	Q9H799	p.Met332Val	rs369404481	missense variant	-	NC_000005.10:g.37230994T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met332Thr	rs1385320835	missense variant	-	NC_000005.10:g.37230993A>G	gnomAD
CPLANE1	Q9H799	p.Arg335His	rs570985560	missense variant	-	NC_000005.10:g.37230984C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg335Cys	rs1315296922	missense variant	-	NC_000005.10:g.37230985G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu338Val	rs1004787837	missense variant	-	NC_000005.10:g.37230976G>C	TOPMed
CPLANE1	Q9H799	p.Val339Ile	rs527836330	missense variant	-	NC_000005.10:g.37230973C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu341Phe	rs1252357096	missense variant	-	NC_000005.10:g.37230965C>G	gnomAD
CPLANE1	Q9H799	p.Leu341Trp	rs1458937434	missense variant	-	NC_000005.10:g.37230966A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr342Asn	rs1433221579	missense variant	-	NC_000005.10:g.37230963G>T	TOPMed
CPLANE1	Q9H799	p.Gly345Ala	rs1158143763	missense variant	-	NC_000005.10:g.37230954C>G	gnomAD
CPLANE1	Q9H799	p.Glu346Ter	rs1469773488	stop gained	-	NC_000005.10:g.37230952C>A	TOPMed
CPLANE1	Q9H799	p.Leu347Trp	rs1468807312	missense variant	-	NC_000005.10:g.37230948A>C	gnomAD
CPLANE1	Q9H799	p.Thr352Lys	rs1443893630	missense variant	-	NC_000005.10:g.37230933G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr352Ala	rs1188032768	missense variant	-	NC_000005.10:g.37230934T>C	gnomAD
CPLANE1	Q9H799	p.Thr352Ile	rs1443893630	missense variant	-	NC_000005.10:g.37230933G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr352Lys	RCV000523196	missense variant	-	NC_000005.10:g.37230933G>T	ClinVar
CPLANE1	Q9H799	p.Cys355Tyr	rs1210054410	missense variant	-	NC_000005.10:g.37230924C>T	gnomAD
CPLANE1	Q9H799	p.Ser356Ala	rs150818442	missense variant	-	NC_000005.10:g.37230922A>C	1000Genomes,ExAC
CPLANE1	Q9H799	p.Ile357Val	rs548640009	missense variant	-	NC_000005.10:g.37230919T>C	1000Genomes,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu358Gln	rs1320099373	missense variant	-	NC_000005.10:g.37230916C>G	TOPMed
CPLANE1	Q9H799	p.Pro361Ser	rs758553385	missense variant	-	NC_000005.10:g.37230907G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro366Ser	rs376489487	missense variant	-	NC_000005.10:g.37230892G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro366Leu	rs1388570960	missense variant	-	NC_000005.10:g.37230891G>A	TOPMed
CPLANE1	Q9H799	p.Leu367Phe	rs765252155	missense variant	-	NC_000005.10:g.37230889G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His368Arg	rs1286291749	missense variant	-	NC_000005.10:g.37230885T>C	gnomAD
CPLANE1	Q9H799	p.Pro369Ser	rs1247233752	missense variant	-	NC_000005.10:g.37230883G>A	gnomAD
CPLANE1	Q9H799	p.Thr372Pro	rs1382677016	missense variant	-	NC_000005.10:g.37230874T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr372Met	rs1046843624	missense variant	-	NC_000005.10:g.37230873G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro375Ser	RCV000322008	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37227816G>A	ClinVar
CPLANE1	Q9H799	p.Pro375Ser	rs774016809	missense variant	-	NC_000005.10:g.37227816G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr379Met	rs373606997	missense variant	-	NC_000005.10:g.37227803G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp382Tyr	rs1263126278	missense variant	-	NC_000005.10:g.37227795C>A	TOPMed
CPLANE1	Q9H799	p.Val387Ile	rs1333047025	missense variant	-	NC_000005.10:g.37227780C>T	gnomAD
CPLANE1	Q9H799	p.Ser389Leu	rs1324374545	missense variant	-	NC_000005.10:g.37227773G>A	gnomAD
CPLANE1	Q9H799	p.Ser390Thr	rs1404589147	missense variant	-	NC_000005.10:g.37227771A>T	gnomAD
CPLANE1	Q9H799	p.Asp393Gly	rs757781635	missense variant	-	NC_000005.10:g.37227761T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.del394TerIleLysTerUnk	rs1418777164	stop gained	-	NC_000005.10:g.37227759_37227760insTCTACTTGATTCA	gnomAD
CPLANE1	Q9H799	p.Ser394Asn	rs980810902	missense variant	-	NC_000005.10:g.37227758C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp395Glu	rs1265528395	missense variant	-	NC_000005.10:g.37227754G>C	TOPMed
CPLANE1	Q9H799	p.Met397Val	rs1008133189	missense variant	-	NC_000005.10:g.37227750T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met397Ile	rs573982253	missense variant	-	NC_000005.10:g.37227748C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met397Leu	rs1008133189	missense variant	-	NC_000005.10:g.37227750T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg398Lys	rs1198168579	missense variant	-	NC_000005.10:g.37227746C>T	gnomAD
CPLANE1	Q9H799	p.Gln399His	rs182286156	missense variant	-	NC_000005.10:g.37227742C>G	1000Genomes
CPLANE1	Q9H799	p.Gln399Ter	rs1489730749	stop gained	-	NC_000005.10:g.37227744G>A	gnomAD
CPLANE1	Q9H799	p.Gln399Arg	rs890574549	missense variant	-	NC_000005.10:g.37227743T>C	TOPMed
CPLANE1	Q9H799	p.Ile403Thr	rs1359869560	missense variant	-	NC_000005.10:g.37227731A>G	TOPMed
CPLANE1	Q9H799	p.Arg408Gln	rs929327971	missense variant	-	NC_000005.10:g.37227716C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg408Trp	rs189796608	missense variant	-	NC_000005.10:g.37227717G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg408Leu	rs929327971	missense variant	-	NC_000005.10:g.37227716C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro410Ser	rs868424448	missense variant	-	NC_000005.10:g.37227711G>A	gnomAD
CPLANE1	Q9H799	p.Tyr411His	rs1347149040	missense variant	-	NC_000005.10:g.37227708A>G	gnomAD
CPLANE1	Q9H799	p.Leu412Arg	rs1295132257	missense variant	-	NC_000005.10:g.37227704A>C	TOPMed
CPLANE1	Q9H799	p.Val413Ile	rs758642292	missense variant	-	NC_000005.10:g.37227702C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr421Ile	rs752878745	missense variant	-	NC_000005.10:g.37227677G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg424Ter	RCV000438829	nonsense	-	NC_000005.10:g.37227669G>A	ClinVar
CPLANE1	Q9H799	p.Arg424Ter	RCV000694430	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37227669G>A	ClinVar
CPLANE1	Q9H799	p.Arg424Gln	rs369204500	missense variant	-	NC_000005.10:g.37227668C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg424Ter	rs755097302	stop gained	-	NC_000005.10:g.37227669G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu426Pro	rs569749694	missense variant	-	NC_000005.10:g.37227662A>G	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Asp427Glu	RCV000513673	missense variant	-	NC_000005.10:g.37227658A>T	ClinVar
CPLANE1	Q9H799	p.Asp427Glu	rs1416115425	missense variant	-	NC_000005.10:g.37227658A>T	gnomAD
CPLANE1	Q9H799	p.Ser428Arg	rs1425197384	missense variant	-	NC_000005.10:g.37227655G>C	gnomAD
CPLANE1	Q9H799	p.Ser430Pro	rs539526918	missense variant	-	NC_000005.10:g.37227651A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser430Thr	rs539526918	missense variant	-	NC_000005.10:g.37227651A>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met435Leu	rs1184764389	missense variant	-	NC_000005.10:g.37227636T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met435Val	rs1184764389	missense variant	-	NC_000005.10:g.37227636T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg436Ser	rs1481127855	missense variant	-	NC_000005.10:g.37227631T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu438Phe	rs774184345	missense variant	-	NC_000005.10:g.37227627G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu438Arg	rs1444670357	missense variant	-	NC_000005.10:g.37227626A>C	gnomAD
CPLANE1	Q9H799	p.Leu440Phe	rs1263799600	missense variant	-	NC_000005.10:g.37227621G>A	gnomAD
CPLANE1	Q9H799	p.Leu440Pro	rs1203167510	missense variant	-	NC_000005.10:g.37227620A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln444Glu	rs1347857852	missense variant	-	NC_000005.10:g.37227609G>C	TOPMed
CPLANE1	Q9H799	p.Gln444Ter	rs1347857852	stop gained	-	NC_000005.10:g.37227609G>A	TOPMed
CPLANE1	Q9H799	p.Ile449Val	rs938499127	missense variant	-	NC_000005.10:g.37227594T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr450Asp	rs1204605921	missense variant	-	NC_000005.10:g.37227591A>C	gnomAD
CPLANE1	Q9H799	p.Val453Met	rs768413158	missense variant	-	NC_000005.10:g.37227582C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile454Leu	rs1032256723	missense variant	-	NC_000005.10:g.37227579T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu455Ser	rs1335463376	missense variant	-	NC_000005.10:g.37227575A>G	gnomAD
CPLANE1	Q9H799	p.Lys461Glu	rs1452570073	missense variant	-	NC_000005.10:g.37227383T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly462Glu	rs1343122552	missense variant	-	NC_000005.10:g.37227379C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu463Pro	rs1157357610	missense variant	-	NC_000005.10:g.37227376A>G	gnomAD
CPLANE1	Q9H799	p.Arg466Ter	rs201292596	stop gained	-	NC_000005.10:g.37227368G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg466Gln	rs868467543	missense variant	-	NC_000005.10:g.37227367C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg466Gly	rs201292596	missense variant	-	NC_000005.10:g.37227368G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu471Val	rs139940282	missense variant	-	NC_000005.10:g.37227353G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu471Val	RCV000646719	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37227353G>C	ClinVar
CPLANE1	Q9H799	p.Arg472Trp	rs368258488	missense variant	-	NC_000005.10:g.37227350T>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg472Lys	rs1187221964	missense variant	-	NC_000005.10:g.37227349C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser474Thr	rs780122881	missense variant	-	NC_000005.10:g.37227343C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu477Lys	rs1240635623	missense variant	-	NC_000005.10:g.37227335C>T	gnomAD
CPLANE1	Q9H799	p.His478Arg	rs756024139	missense variant	-	NC_000005.10:g.37227331T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln479Lys	rs1359820021	missense variant	-	NC_000005.10:g.37227329G>T	gnomAD
CPLANE1	Q9H799	p.Glu482Val	rs1290792126	missense variant	-	NC_000005.10:g.37227319T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser483Ile	rs750330611	missense variant	-	NC_000005.10:g.37227316C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp486Asn	RCV000724006	missense variant	-	NC_000005.10:g.37227308C>T	ClinVar
CPLANE1	Q9H799	p.Asp486Asn	rs374411782	missense variant	-	NC_000005.10:g.37227308C>T	1000Genomes,ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp486Asn	RCV000325656	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37227308C>T	ClinVar
CPLANE1	Q9H799	p.Val489Phe	RCV000420402	missense variant	-	NC_000005.10:g.37227299C>A	ClinVar
CPLANE1	Q9H799	p.Val489Ile	rs372187548	missense variant	-	NC_000005.10:g.37227299C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val489Phe	rs372187548	missense variant	-	NC_000005.10:g.37227299C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro490Ala	rs1401068752	missense variant	-	NC_000005.10:g.37227296G>C	TOPMed
CPLANE1	Q9H799	p.Pro490Leu	rs979311838	missense variant	-	NC_000005.10:g.37227295G>A	gnomAD
CPLANE1	Q9H799	p.Lys491Arg	rs761746624	missense variant	-	NC_000005.10:g.37227292T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys491Ile	rs761746624	missense variant	-	NC_000005.10:g.37227292T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu496Gly	rs938547995	missense variant	-	NC_000005.10:g.37227277T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr498Ile	rs751399336	missense variant	-	NC_000005.10:g.37227271G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile499Arg	rs928430723	missense variant	-	NC_000005.10:g.37227268A>C	TOPMed
CPLANE1	Q9H799	p.Ile499Val	rs1028627119	missense variant	-	NC_000005.10:g.37227269T>C	gnomAD
CPLANE1	Q9H799	p.Asn502Ser	rs1275634659	missense variant	-	NC_000005.10:g.37227259T>C	TOPMed
CPLANE1	Q9H799	p.Ala503Thr	rs1064796585	missense variant	-	NC_000005.10:g.37227257C>T	-
CPLANE1	Q9H799	p.Ala503Gly	rs1347489421	missense variant	-	NC_000005.10:g.37227256G>C	TOPMed
CPLANE1	Q9H799	p.Ala503Thr	RCV000481379	missense variant	-	NC_000005.10:g.37227257C>T	ClinVar
CPLANE1	Q9H799	p.Asn515Lys	rs773819961	missense variant	-	NC_000005.10:g.37227050G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu516Lys	rs772553650	missense variant	-	NC_000005.10:g.37227049C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg518Ser	rs886060583	missense variant	-	NC_000005.10:g.37227041T>A	gnomAD
CPLANE1	Q9H799	p.Arg518Ser	RCV000270620	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37227041T>A	ClinVar
CPLANE1	Q9H799	p.His519Arg	rs1461942415	missense variant	-	NC_000005.10:g.37227039T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys525Arg	rs1371369898	missense variant	-	NC_000005.10:g.37227022A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe527Val	rs1178730858	missense variant	-	NC_000005.10:g.37227016A>C	gnomAD
CPLANE1	Q9H799	p.Asp533Val	rs1428927651	missense variant	-	NC_000005.10:g.37226997T>A	gnomAD
CPLANE1	Q9H799	p.Cys536Phe	rs558101040	missense variant	-	NC_000005.10:g.37226988C>A	1000Genomes
CPLANE1	Q9H799	p.Ser538Asn	rs954907723	missense variant	-	NC_000005.10:g.37226982C>T	TOPMed
CPLANE1	Q9H799	p.Ser538Cys	rs1403977547	missense variant	-	NC_000005.10:g.37226983T>A	TOPMed
CPLANE1	Q9H799	p.Lys540Asn	rs1449072117	missense variant	-	NC_000005.10:g.37226975C>A	TOPMed
CPLANE1	Q9H799	p.Glu541Lys	rs1307104090	missense variant	-	NC_000005.10:g.37226974C>T	TOPMed
CPLANE1	Q9H799	p.Gly542Arg	rs1250993026	missense variant	-	NC_000005.10:g.37226971C>T	gnomAD
CPLANE1	Q9H799	p.Arg543Ile	rs1451330944	missense variant	-	NC_000005.10:g.37226967C>A	gnomAD
CPLANE1	Q9H799	p.Met549Val	rs563502625	missense variant	-	NC_000005.10:g.37226950T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr552Met	rs77739540	missense variant	-	NC_000005.10:g.37226940G>A	1000Genomes,ExAC,TOPMed
CPLANE1	Q9H799	p.Thr552Met	RCV000520085	missense variant	-	NC_000005.10:g.37226940G>A	ClinVar
CPLANE1	Q9H799	p.His554Tyr	rs1229854824	missense variant	-	NC_000005.10:g.37226935G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala555Ser	rs1337841433	missense variant	-	NC_000005.10:g.37226932C>A	gnomAD
CPLANE1	Q9H799	p.Asp563His	rs1418530039	missense variant	-	NC_000005.10:g.37226908C>G	gnomAD
CPLANE1	Q9H799	p.Arg564Gly	rs1470384523	missense variant	-	NC_000005.10:g.37226905T>C	gnomAD
CPLANE1	Q9H799	p.Ile566Val	rs756254995	missense variant	-	NC_000005.10:g.37226899T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr567Ile	rs1364117468	missense variant	-	NC_000005.10:g.37226895G>A	gnomAD
CPLANE1	Q9H799	p.Lys574Asn	rs1188797300	missense variant	-	NC_000005.10:g.37226873T>A	TOPMed
CPLANE1	Q9H799	p.Leu576Ile	rs1370751672	missense variant	-	NC_000005.10:g.37226869G>T	TOPMed
CPLANE1	Q9H799	p.Ala579Val	rs191239995	missense variant	-	NC_000005.10:g.37226859G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala579Val	RCV000646713	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37226859G>A	ClinVar
CPLANE1	Q9H799	p.Ala579Val	RCV000625261	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226859G>A	ClinVar
CPLANE1	Q9H799	p.Trp580Ter	rs1460428825	stop gained	-	NC_000005.10:g.37226855C>T	gnomAD
CPLANE1	Q9H799	p.Ile582Val	rs1424803343	missense variant	-	NC_000005.10:g.37226851T>C	TOPMed
CPLANE1	Q9H799	p.Ile582Thr	rs1260722151	missense variant	-	NC_000005.10:g.37226850A>G	gnomAD
CPLANE1	Q9H799	p.Ile582Met	rs995624563	missense variant	-	NC_000005.10:g.37226849T>C	gnomAD
CPLANE1	Q9H799	p.Gly583Arg	rs1350997993	missense variant	-	NC_000005.10:g.37226848C>G	gnomAD
CPLANE1	Q9H799	p.Thr589Ala	rs1206198595	missense variant	-	NC_000005.10:g.37226830T>C	gnomAD
CPLANE1	Q9H799	p.Glu590Gly	rs751417720	missense variant	-	NC_000005.10:g.37226826T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn592Lys	rs1334510328	missense variant	-	NC_000005.10:g.37226819A>T	gnomAD
CPLANE1	Q9H799	p.Leu593Val	rs1272767433	missense variant	-	NC_000005.10:g.37226818A>C	gnomAD
CPLANE1	Q9H799	p.Leu595Ter	rs530569572	stop gained	-	NC_000005.10:g.37226811A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu595Ter	RCV000201692	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226811A>C	ClinVar
CPLANE1	Q9H799	p.Leu595Ter	RCV000523063	nonsense	-	NC_000005.10:g.37226811A>C	ClinVar
CPLANE1	Q9H799	p.Ile598Val	rs1382067645	missense variant	-	NC_000005.10:g.37226803T>C	gnomAD
CPLANE1	Q9H799	p.Cys601Ser	rs1402632313	missense variant	-	NC_000005.10:g.37226793C>G	gnomAD
CPLANE1	Q9H799	p.Ile602Phe	rs1386005132	missense variant	-	NC_000005.10:g.37226791T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile602Met	rs896455969	missense variant	-	NC_000005.10:g.37226789G>C	gnomAD
CPLANE1	Q9H799	p.His604Leu	rs200550378	missense variant	-	NC_000005.10:g.37226784T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe605Ile	rs570302899	missense variant	-	NC_000005.10:g.37226782A>T	1000Genomes
CPLANE1	Q9H799	p.Phe606Val	rs1164067387	missense variant	-	NC_000005.10:g.37226779A>C	gnomAD
CPLANE1	Q9H799	p.Tyr607Ter	RCV000174405	frameshift	-	NC_000005.10:g.37226783dup	ClinVar
CPLANE1	Q9H799	p.Ile608Thr	rs1194762831	missense variant	-	NC_000005.10:g.37226772A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile608Val	rs752434954	missense variant	-	NC_000005.10:g.37226773T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile608Ser	rs1194762831	missense variant	-	NC_000005.10:g.37226772A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile608Phe	rs752434954	missense variant	-	NC_000005.10:g.37226773T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile608Met	rs1338159128	missense variant	-	NC_000005.10:g.37226771A>C	TOPMed
CPLANE1	Q9H799	p.Leu609Phe	rs1447204022	missense variant	-	NC_000005.10:g.37226770G>A	gnomAD
CPLANE1	Q9H799	p.Gln610Ter	rs1200574734	stop gained	-	NC_000005.10:g.37226767G>A	TOPMed
CPLANE1	Q9H799	p.Ile612Thr	rs551661336	missense variant	-	NC_000005.10:g.37226760A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys613Asn	rs533310477	missense variant	-	NC_000005.10:g.37226756T>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys613Asn	RCV000764606	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37226756T>G	ClinVar
CPLANE1	Q9H799	p.Lys613Asn	RCV000380958	missense variant	-	NC_000005.10:g.37226756T>G	ClinVar
CPLANE1	Q9H799	p.Cys614Tyr	rs1353659476	missense variant	-	NC_000005.10:g.37226754C>T	gnomAD
CPLANE1	Q9H799	p.Pro615Ser	rs1351894088	missense variant	-	NC_000005.10:g.37226752G>A	gnomAD
CPLANE1	Q9H799	p.Phe616Leu	rs1326644956	missense variant	-	NC_000005.10:g.37226749A>G	gnomAD
CPLANE1	Q9H799	p.Pro617Arg	rs1294435340	missense variant	-	NC_000005.10:g.37226745G>C	gnomAD
CPLANE1	Q9H799	p.Lys618Thr	rs892914879	missense variant	-	NC_000005.10:g.37226742T>G	TOPMed
CPLANE1	Q9H799	p.Leu621Ile	rs762248689	missense variant	-	NC_000005.10:g.37226734G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser626Ter	RCV000554109	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226718del	ClinVar
CPLANE1	Q9H799	p.Ser627Thr	rs1317816571	missense variant	-	NC_000005.10:g.37226716A>T	gnomAD
CPLANE1	Q9H799	p.Arg628Lys	RCV000145357	missense variant	-	NC_000005.10:g.37226712C>T	ClinVar
CPLANE1	Q9H799	p.Arg628Lys	rs74975451	missense variant	-	NC_000005.10:g.37226712C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn630Ser	rs1383468137	missense variant	-	NC_000005.10:g.37226706T>C	gnomAD
CPLANE1	Q9H799	p.Ala631Val	rs1303581119	missense variant	-	NC_000005.10:g.37226703G>A	gnomAD
CPLANE1	Q9H799	p.Trp632Cys	rs539789389	missense variant	-	NC_000005.10:g.37226699C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile633Val	rs1462177997	missense variant	-	NC_000005.10:g.37226698T>C	gnomAD
CPLANE1	Q9H799	p.Ile633Met	rs910843354	missense variant	-	NC_000005.10:g.37226696T>C	TOPMed
CPLANE1	Q9H799	p.His641Pro	rs1401668840	missense variant	-	NC_000005.10:g.37226673T>G	TOPMed
CPLANE1	Q9H799	p.His647Arg	rs983530028	missense variant	-	NC_000005.10:g.37226655T>C	gnomAD
CPLANE1	Q9H799	p.His647Pro	rs983530028	missense variant	-	NC_000005.10:g.37226655T>G	gnomAD
CPLANE1	Q9H799	p.His647Tyr	rs775827684	missense variant	-	NC_000005.10:g.37226656G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg652Ile	rs1490748085	missense variant	-	NC_000005.10:g.37226640C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr653Cys	rs1342297170	missense variant	-	NC_000005.10:g.37226637T>C	TOPMed
CPLANE1	Q9H799	p.Lys654Gln	rs1271454737	missense variant	-	NC_000005.10:g.37226635T>G	gnomAD
CPLANE1	Q9H799	p.Gln655Pro	rs923514393	missense variant	-	NC_000005.10:g.37226631T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp656Asn	rs972236064	missense variant	-	NC_000005.10:g.37226629C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp656Val	rs1216833526	missense variant	-	NC_000005.10:g.37226628T>A	gnomAD
CPLANE1	Q9H799	p.Asp656Tyr	rs972236064	missense variant	-	NC_000005.10:g.37226629C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val657Met	rs529419886	missense variant	-	NC_000005.10:g.37226626C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly658Glu	rs745967875	missense variant	-	NC_000005.10:g.37226622C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly658Arg	rs1269693917	missense variant	-	NC_000005.10:g.37226623C>G	gnomAD
CPLANE1	Q9H799	p.His659Asn	rs1192029285	missense variant	-	NC_000005.10:g.37226620G>T	TOPMed
CPLANE1	Q9H799	p.Ile661Val	rs1016323553	missense variant	-	NC_000005.10:g.37226614T>C	TOPMed
CPLANE1	Q9H799	p.Lys662Thr	rs1347676803	missense variant	-	NC_000005.10:g.37226610T>G	gnomAD
CPLANE1	Q9H799	p.Asn666Asp	rs1404179003	missense variant	-	NC_000005.10:g.37226599T>C	gnomAD
CPLANE1	Q9H799	p.Asn666Ser	rs1201293004	missense variant	-	NC_000005.10:g.37226598T>C	TOPMed
CPLANE1	Q9H799	p.Thr667Ala	rs1375962001	missense variant	-	NC_000005.10:g.37226596T>C	TOPMed
CPLANE1	Q9H799	p.Lys669Thr	rs1330748126	missense variant	-	NC_000005.10:g.37226589T>G	gnomAD
CPLANE1	Q9H799	p.Leu670Val	rs1410489854	missense variant	-	NC_000005.10:g.37226587G>C	gnomAD
CPLANE1	Q9H799	p.Leu672Pro	rs951749046	missense variant	-	NC_000005.10:g.37226580A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu672Arg	rs951749046	missense variant	-	NC_000005.10:g.37226580A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr673Ser	rs1172913663	missense variant	-	NC_000005.10:g.37226578T>A	TOPMed
CPLANE1	Q9H799	p.Gln676Ter	rs1361136933	stop gained	-	NC_000005.10:g.37226569G>A	TOPMed
CPLANE1	Q9H799	p.Gly678Asp	rs958743377	missense variant	-	NC_000005.10:g.37226562C>T	TOPMed
CPLANE1	Q9H799	p.Gly678Arg	rs1027355854	missense variant	-	NC_000005.10:g.37226563C>G	TOPMed
CPLANE1	Q9H799	p.Gln679Arg	rs1165694869	missense variant	-	NC_000005.10:g.37226559T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln679His	rs781366484	missense variant	-	NC_000005.10:g.37226558C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe681Leu	rs1429624123	missense variant	-	NC_000005.10:g.37226552G>T	gnomAD
CPLANE1	Q9H799	p.Phe689Leu	rs1034725789	missense variant	-	NC_000005.10:g.37226530A>G	TOPMed
CPLANE1	Q9H799	p.Tyr690His	rs561921574	missense variant	-	NC_000005.10:g.37226527A>G	1000Genomes
CPLANE1	Q9H799	p.Lys693Arg	rs181812684	missense variant	-	NC_000005.10:g.37226517T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys693Thr	rs181812684	missense variant	-	NC_000005.10:g.37226517T>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met694Val	rs1057519066	missense variant	-	NC_000005.10:g.37226515T>C	gnomAD
CPLANE1	Q9H799	p.Val695Ile	rs758264035	missense variant	-	NC_000005.10:g.37226512C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn700His	rs1260442830	missense variant	-	NC_000005.10:g.37226497T>G	TOPMed
CPLANE1	Q9H799	p.Gly701Val	rs1489030827	missense variant	-	NC_000005.10:g.37226493C>A	TOPMed
CPLANE1	Q9H799	p.Val702Leu	rs1272351781	missense variant	-	NC_000005.10:g.37226491C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr703Cys	rs907149172	missense variant	-	NC_000005.10:g.37226487T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile704Val	rs1223152661	missense variant	-	NC_000005.10:g.37226485T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln706His	rs1365168023	missense variant	-	NC_000005.10:g.37226477T>G	gnomAD
CPLANE1	Q9H799	p.Pro707Ser	rs1281104449	missense variant	-	NC_000005.10:g.37226476G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile710Val	rs1380828307	missense variant	-	NC_000005.10:g.37226467T>C	TOPMed
CPLANE1	Q9H799	p.Ser711Leu	RCV000729979	missense variant	-	NC_000005.10:g.37226463G>A	ClinVar
CPLANE1	Q9H799	p.Ser711Leu	rs116237993	missense variant	-	NC_000005.10:g.37226463G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser713Leu	RCV000417596	missense variant	-	NC_000005.10:g.37226457G>A	ClinVar
CPLANE1	Q9H799	p.Ser713Leu	rs765005739	missense variant	-	NC_000005.10:g.37226457G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly716Arg	rs1362957375	missense variant	-	NC_000005.10:g.37226449C>T	TOPMed
CPLANE1	Q9H799	p.Ala721Val	rs1470706207	missense variant	-	NC_000005.10:g.37226433G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu725Ser	rs1175193491	missense variant	-	NC_000005.10:g.37226421A>G	gnomAD
CPLANE1	Q9H799	p.Pro728Ala	rs1467926733	missense variant	-	NC_000005.10:g.37226413G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro728Ala	RCV000499755	missense variant	-	NC_000005.10:g.37226413G>C	ClinVar
CPLANE1	Q9H799	p.Ile729Val	RCV000646707	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37226410T>C	ClinVar
CPLANE1	Q9H799	p.Ile729Val	rs1010091096	missense variant	-	NC_000005.10:g.37226410T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe730Leu	rs558035506	missense variant	-	NC_000005.10:g.37226407A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met732Leu	rs1054212301	missense variant	-	NC_000005.10:g.37226401T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln734Leu	rs1232879896	missense variant	-	NC_000005.10:g.37226394T>A	gnomAD
CPLANE1	Q9H799	p.Gln734Glu	rs753359539	missense variant	-	NC_000005.10:g.37226395G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp735His	rs1322678335	missense variant	-	NC_000005.10:g.37226392C>G	TOPMed
CPLANE1	Q9H799	p.Ser736Asn	rs765826864	missense variant	-	NC_000005.10:g.37226388C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys740Asn	rs896731706	missense variant	-	NC_000005.10:g.37226375T>A	TOPMed
CPLANE1	Q9H799	p.Trp742Ser	rs1424521215	missense variant	-	NC_000005.10:g.37226370C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser743Cys	rs1468250803	missense variant	-	NC_000005.10:g.37226367G>C	TOPMed
CPLANE1	Q9H799	p.Trp744Leu	rs1199522555	missense variant	-	NC_000005.10:g.37226364C>A	TOPMed
CPLANE1	Q9H799	p.Phe748Val	rs942403065	missense variant	-	NC_000005.10:g.37226353A>C	TOPMed
CPLANE1	Q9H799	p.His751Arg	rs889538605	missense variant	-	NC_000005.10:g.37226343T>C	TOPMed
CPLANE1	Q9H799	p.Gln753Glu	rs1203230774	missense variant	-	NC_000005.10:g.37226338G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val754Leu	rs1310709857	missense variant	-	NC_000005.10:g.37226335C>G	gnomAD
CPLANE1	Q9H799	p.Val755Ile	rs1286064292	missense variant	-	NC_000005.10:g.37226332C>T	gnomAD
CPLANE1	Q9H799	p.Asn756Lys	rs546125732	missense variant	-	NC_000005.10:g.37226327A>T	1000Genomes,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln759Ter	RCV000201623	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37226320G>A	ClinVar
CPLANE1	Q9H799	p.Gln759Ter	rs863225158	stop gained	-	NC_000005.10:g.37226320G>A	TOPMed
CPLANE1	Q9H799	p.Gln759Glu	rs863225158	missense variant	-	NC_000005.10:g.37226320G>C	TOPMed
CPLANE1	Q9H799	p.Gln760Lys	rs762334514	missense variant	-	NC_000005.10:g.37226317G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln760Ter	rs762334514	stop gained	-	NC_000005.10:g.37226317G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln760Glu	rs762334514	missense variant	-	NC_000005.10:g.37226317G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His763Asp	rs1306899067	missense variant	-	NC_000005.10:g.37226308G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile767Val	rs1267786198	missense variant	-	NC_000005.10:g.37224733T>C	TOPMed
CPLANE1	Q9H799	p.Trp769Arg	rs1050253934	missense variant	-	NC_000005.10:g.37224727A>T	TOPMed
CPLANE1	Q9H799	p.Ile771Met	rs1216772002	missense variant	-	NC_000005.10:g.37224719T>C	gnomAD
CPLANE1	Q9H799	p.Leu772Arg	rs775652771	missense variant	-	NC_000005.10:g.37224717A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu772Pro	rs775652771	missense variant	-	NC_000005.10:g.37224717A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr773Cys	RCV000435777	missense variant	-	NC_000005.10:g.37224714T>C	ClinVar
CPLANE1	Q9H799	p.Tyr773Cys	rs1057521766	missense variant	-	NC_000005.10:g.37224714T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr773Ser	rs1057521766	missense variant	-	NC_000005.10:g.37224714T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys774Asn	rs770072253	missense variant	-	NC_000005.10:g.37224710T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys775Asn	rs1313704320	missense variant	-	NC_000005.10:g.37224707T>A	gnomAD
CPLANE1	Q9H799	p.Leu777Ser	rs1226186288	missense variant	-	NC_000005.10:g.37224702A>G	gnomAD
CPLANE1	Q9H799	p.Trp778Arg	rs1363462144	missense variant	-	NC_000005.10:g.37224700A>G	gnomAD
CPLANE1	Q9H799	p.Gln780Arg	rs1289028361	missense variant	-	NC_000005.10:g.37224693T>C	gnomAD
CPLANE1	Q9H799	p.Gln780Arg	RCV000658300	missense variant	-	NC_000005.10:g.37224693T>C	ClinVar
CPLANE1	Q9H799	p.Arg785Ter	RCV000201655	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37224679G>A	ClinVar
CPLANE1	Q9H799	p.Arg785Ter	RCV000362856	nonsense	-	NC_000005.10:g.37224679G>A	ClinVar
CPLANE1	Q9H799	p.Arg785Ter	rs863225163	stop gained	-	NC_000005.10:g.37224679G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg785Gln	rs535811932	missense variant	-	NC_000005.10:g.37224678C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val787Ile	rs1296784985	missense variant	-	NC_000005.10:g.37224673C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro788Leu	rs1427088812	missense variant	-	NC_000005.10:g.37224669G>A	gnomAD
CPLANE1	Q9H799	p.Ser792Asn	rs1164163422	missense variant	-	NC_000005.10:g.37224657C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser792Cys	rs1386473177	missense variant	-	NC_000005.10:g.37224658T>A	gnomAD
CPLANE1	Q9H799	p.Gln793Ter	rs776886962	stop gained	-	NC_000005.10:g.37224655G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln793Arg	rs1475335968	missense variant	-	NC_000005.10:g.37224654T>C	TOPMed
CPLANE1	Q9H799	p.Gln793Ter	RCV000201525	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37224655G>A	ClinVar
CPLANE1	Q9H799	p.Leu794Ser	rs1421753296	missense variant	-	NC_000005.10:g.37224651A>G	gnomAD
CPLANE1	Q9H799	p.Thr795Ala	rs1187278191	missense variant	-	NC_000005.10:g.37224649T>C	gnomAD
CPLANE1	Q9H799	p.Met798Lys	rs1485682690	missense variant	-	NC_000005.10:g.37224639A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.His800Asn	rs1260724286	missense variant	-	NC_000005.10:g.37224634G>T	gnomAD
CPLANE1	Q9H799	p.Ala802Val	rs771174918	missense variant	-	NC_000005.10:g.37224627G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val805Ile	rs1490492363	missense variant	-	NC_000005.10:g.37224619C>T	gnomAD
CPLANE1	Q9H799	p.Leu808Val	rs1290864107	missense variant	-	NC_000005.10:g.37224610G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu808Ter	RCV000527826	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37224609_37224610del	ClinVar
CPLANE1	Q9H799	p.Cys810Trp	rs1291473289	missense variant	-	NC_000005.10:g.37224602A>C	TOPMed
CPLANE1	Q9H799	p.Cys810Arg	rs886060581	missense variant	-	NC_000005.10:g.37224604A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys810Gly	rs886060581	missense variant	-	NC_000005.10:g.37224604A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys810Gly	RCV000334302	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37224604A>C	ClinVar
CPLANE1	Q9H799	p.His811Tyr	rs1213599040	missense variant	-	NC_000005.10:g.37224601G>A	gnomAD
CPLANE1	Q9H799	p.Ala814Asp	rs1243954217	missense variant	-	NC_000005.10:g.37224591G>T	TOPMed
CPLANE1	Q9H799	p.Leu816Ile	rs192335673	missense variant	-	NC_000005.10:g.37224586G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu816Val	rs192335673	missense variant	-	NC_000005.10:g.37224586G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp821Asn	rs1481482875	missense variant	-	NC_000005.10:g.37224571C>T	TOPMed
CPLANE1	Q9H799	p.Cys822Arg	rs1011292016	missense variant	-	NC_000005.10:g.37224568A>G	gnomAD
CPLANE1	Q9H799	p.Asn824Ser	rs796385626	missense variant	-	NC_000005.10:g.37224561T>C	TOPMed
CPLANE1	Q9H799	p.Glu828Ter	rs1456857277	stop gained	-	NC_000005.10:g.37224550C>A	gnomAD
CPLANE1	Q9H799	p.Ser831Phe	rs1356314101	missense variant	-	NC_000005.10:g.37224540G>A	gnomAD
CPLANE1	Q9H799	p.Ile832Val	rs1171272217	missense variant	-	NC_000005.10:g.37224538T>C	gnomAD
CPLANE1	Q9H799	p.Asn833Ser	rs980898617	missense variant	-	NC_000005.10:g.37224534T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly834Arg	rs1410964430	missense variant	-	NC_000005.10:g.37224532C>T	TOPMed
CPLANE1	Q9H799	p.Cys837Tyr	rs1264537897	missense variant	-	NC_000005.10:g.37224324C>T	gnomAD
CPLANE1	Q9H799	p.Ser842Ter	rs753449442	stop gained	-	NC_000005.10:g.37224309G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Val847Phe	rs1426431422	missense variant	-	NC_000005.10:g.37224295C>A	TOPMed
CPLANE1	Q9H799	p.Gln848His	rs199749415	missense variant	-	NC_000005.10:g.37224290C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp850Arg	rs1385563171	missense variant	-	NC_000005.10:g.37224286A>G	gnomAD
CPLANE1	Q9H799	p.Lys852Glu	rs755666811	missense variant	-	NC_000005.10:g.37224280T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala853Val	rs886060580	missense variant	-	NC_000005.10:g.37224276G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala853Gly	rs886060580	missense variant	-	NC_000005.10:g.37224276G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala853Ter	RCV000700941	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37224283dup	ClinVar
CPLANE1	Q9H799	p.Ala853Asp	rs886060580	missense variant	-	NC_000005.10:g.37224276G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala853Asp	RCV000279218	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37224276G>T	ClinVar
CPLANE1	Q9H799	p.Gln855Ter	rs1285358729	stop gained	-	NC_000005.10:g.37224271G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu856Lys	rs1465109201	missense variant	-	NC_000005.10:g.37224268C>T	gnomAD
CPLANE1	Q9H799	p.Glu858Ter	rs533506472	stop gained	-	NC_000005.10:g.37224262C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu858Lys	rs533506472	missense variant	-	NC_000005.10:g.37224262C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg863Lys	rs1446725726	missense variant	-	NC_000005.10:g.37221482C>T	gnomAD
CPLANE1	Q9H799	p.Thr865Arg	rs868497791	missense variant	-	NC_000005.10:g.37221476G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr865Ser	rs577616180	missense variant	-	NC_000005.10:g.37221477T>A	1000Genomes,gnomAD
CPLANE1	Q9H799	p.Thr865Met	rs868497791	missense variant	-	NC_000005.10:g.37221476G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe867Val	rs1453632335	missense variant	-	NC_000005.10:g.37221471A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu868Phe	rs771266513	missense variant	-	NC_000005.10:g.37221468G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln869Ter	rs1170595339	stop gained	-	NC_000005.10:g.37221465G>A	gnomAD
CPLANE1	Q9H799	p.Ile870Met	rs1455094740	missense variant	-	NC_000005.10:g.37221460T>C	gnomAD
CPLANE1	Q9H799	p.Arg871Cys	RCV000201667	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37221459G>A	ClinVar
CPLANE1	Q9H799	p.Arg871Leu	rs1157919882	missense variant	-	NC_000005.10:g.37221458C>A	gnomAD
CPLANE1	Q9H799	p.Arg871Ser	rs760906097	missense variant	-	NC_000005.10:g.37221459G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg871His	rs1157919882	missense variant	-	NC_000005.10:g.37221458C>T	gnomAD
CPLANE1	Q9H799	p.Arg871Cys	rs760906097	missense variant	-	NC_000005.10:g.37221459G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser875Phe	rs794727154	missense variant	-	NC_000005.10:g.37221446G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser875Phe	RCV000611123	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37221446G>A	ClinVar
CPLANE1	Q9H799	p.Leu876Val	rs1437781015	missense variant	-	NC_000005.10:g.37221444G>C	gnomAD
CPLANE1	Q9H799	p.Leu877Phe	rs1244409222	missense variant	-	NC_000005.10:g.37221439T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu877Phe	rs1244409222	missense variant	-	NC_000005.10:g.37221439T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr878Asn	rs1183719989	missense variant	-	NC_000005.10:g.37221438A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr878His	rs1183719989	missense variant	-	NC_000005.10:g.37221438A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu881Pro	rs1441469685	missense variant	-	NC_000005.10:g.37221428A>G	gnomAD
CPLANE1	Q9H799	p.Leu881Phe	rs1291012945	missense variant	-	NC_000005.10:g.37221429G>A	TOPMed
CPLANE1	Q9H799	p.Tyr882Cys	rs1012462823	missense variant	-	NC_000005.10:g.37221425T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser883Gly	rs1176267069	missense variant	-	NC_000005.10:g.37221423T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp888Gly	rs1487026046	missense variant	-	NC_000005.10:g.37221407T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp888Val	rs1487026046	missense variant	-	NC_000005.10:g.37221407T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp888Glu	rs1287231108	missense variant	-	NC_000005.10:g.37221406A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly891Val	rs1024667283	missense variant	-	NC_000005.10:g.37221398C>A	TOPMed
CPLANE1	Q9H799	p.Cys893Ter	rs959606573	stop gained	-	NC_000005.10:g.37221391A>T	TOPMed
CPLANE1	Q9H799	p.Trp903Ter	RCV000201748	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37221361C>T	ClinVar
CPLANE1	Q9H799	p.Trp903Ter	rs863225164	stop gained	-	NC_000005.10:g.37221361C>T	TOPMed
CPLANE1	Q9H799	p.Gln905Glu	rs772059088	missense variant	-	NC_000005.10:g.37221357G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Val908Ile	rs1416725338	missense variant	-	NC_000005.10:g.37221348C>T	gnomAD
CPLANE1	Q9H799	p.Lys912Arg	rs184178061	missense variant	-	NC_000005.10:g.37221335T>C	1000Genomes,gnomAD
CPLANE1	Q9H799	p.HisPhe921GlnIle	rs1554100282	missense variant	-	NC_000005.10:g.37213715_37213716inv	-
CPLANE1	Q9H799	p.His921Gln	rs939816838	missense variant	-	NC_000005.10:g.37213716A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.His921GlnIle	RCV000498366	missense variant	-	NC_000005.10:g.37213715_37213716inv	ClinVar
CPLANE1	Q9H799	p.Phe922Leu	rs908372887	missense variant	-	NC_000005.10:g.37213715A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe922Ile	rs908372887	missense variant	-	NC_000005.10:g.37213715A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys924Phe	rs567136523	missense variant	-	NC_000005.10:g.37213708C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys924Ser	rs1294508181	missense variant	-	NC_000005.10:g.37213709A>T	gnomAD
CPLANE1	Q9H799	p.Val927Met	rs1355665464	missense variant	-	NC_000005.10:g.37213700C>T	gnomAD
CPLANE1	Q9H799	p.Gly928Asp	rs1282527770	missense variant	-	NC_000005.10:g.37213696C>T	gnomAD
CPLANE1	Q9H799	p.Gly929Ser	rs1341411250	missense variant	-	NC_000005.10:g.37213694C>T	gnomAD
CPLANE1	Q9H799	p.Gly929Asp	rs1277317146	missense variant	-	NC_000005.10:g.37213693C>T	gnomAD
CPLANE1	Q9H799	p.Glu933Asp	rs779736527	missense variant	-	NC_000005.10:g.37213680C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala934Gly	rs1303627759	missense variant	-	NC_000005.10:g.37213678G>C	gnomAD
CPLANE1	Q9H799	p.Arg937Thr	rs1404726579	missense variant	-	NC_000005.10:g.37213669C>G	gnomAD
CPLANE1	Q9H799	p.Val938Leu	rs1387915213	missense variant	-	NC_000005.10:g.37213667C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val938Ile	rs1387915213	missense variant	-	NC_000005.10:g.37213667C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val939Ile	rs1048318459	missense variant	-	NC_000005.10:g.37213664C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln940Arg	rs1471773265	missense variant	-	NC_000005.10:g.37213660T>C	TOPMed
CPLANE1	Q9H799	p.Gln940His	rs1158643659	missense variant	-	NC_000005.10:g.37213659C>G	TOPMed
CPLANE1	Q9H799	p.Ser941Cys	rs1369179543	missense variant	-	NC_000005.10:g.37213657G>C	TOPMed
CPLANE1	Q9H799	p.Met942Val	rs918958290	missense variant	-	NC_000005.10:g.37213655T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met942Ile	rs1370968866	missense variant	-	NC_000005.10:g.37213653C>T	gnomAD
CPLANE1	Q9H799	p.Arg944His	rs863225165	missense variant	-	NC_000005.10:g.37213648C>T	gnomAD
CPLANE1	Q9H799	p.Arg944His	RCV000201577	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37213648C>T	ClinVar
CPLANE1	Q9H799	p.Phe945Val	rs573980625	missense variant	-	NC_000005.10:g.37213646A>C	gnomAD
CPLANE1	Q9H799	p.Met946Val	rs1451574917	missense variant	-	NC_000005.10:g.37213643T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr949Asp	rs1363586663	missense variant	-	NC_000005.10:g.37213634A>C	TOPMed
CPLANE1	Q9H799	p.Tyr949Cys	rs1287781089	missense variant	-	NC_000005.10:g.37213633T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe950Val	RCV000175099	missense variant	-	NC_000005.10:g.37213631A>C	ClinVar
CPLANE1	Q9H799	p.Phe950Val	rs794727177	missense variant	-	NC_000005.10:g.37213631A>C	-
CPLANE1	Q9H799	p.Thr951Pro	rs1197686499	missense variant	-	NC_000005.10:g.37213628T>G	gnomAD
CPLANE1	Q9H799	p.Asn952Ser	rs554483416	missense variant	-	NC_000005.10:g.37213624T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln954Ter	rs1352090701	stop gained	-	NC_000005.10:g.37213619G>A	TOPMed
CPLANE1	Q9H799	p.Pro960Leu	rs758978371	missense variant	-	NC_000005.10:g.37213600G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His961Tyr	rs1275265369	missense variant	-	NC_000005.10:g.37213598G>A	gnomAD
CPLANE1	Q9H799	p.His962Arg	rs926554823	missense variant	-	NC_000005.10:g.37213594T>C	gnomAD
CPLANE1	Q9H799	p.Val965Leu	rs1221769879	missense variant	-	NC_000005.10:g.37213586C>G	TOPMed
CPLANE1	Q9H799	p.Val965Gly	rs1172167327	missense variant	-	NC_000005.10:g.37213585A>C	gnomAD
CPLANE1	Q9H799	p.Pro967Ser	rs1329332026	missense variant	-	NC_000005.10:g.37213580G>A	gnomAD
CPLANE1	Q9H799	p.Pro968Ser	rs980413221	missense variant	-	NC_000005.10:g.37213577G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys972Gln	rs1246298475	missense variant	-	NC_000005.10:g.37213565T>G	TOPMed
CPLANE1	Q9H799	p.Gln975Ter	RCV000201687	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206423G>A	ClinVar
CPLANE1	Q9H799	p.Gln975Glu	rs863225166	missense variant	-	NC_000005.10:g.37206423G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln975Ter	rs863225166	stop gained	-	NC_000005.10:g.37206423G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg978Ter	rs1359437084	stop gained	-	NC_000005.10:g.37206414G>A	gnomAD
CPLANE1	Q9H799	p.Arg978Gln	rs992985282	missense variant	-	NC_000005.10:g.37206413C>T	gnomAD
CPLANE1	Q9H799	p.Leu979Arg	rs766715085	missense variant	-	NC_000005.10:g.37206410A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile980Leu	rs956289118	missense variant	-	NC_000005.10:g.37206408T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile980Ter	RCV000723180	frameshift	-	NC_000005.10:g.37206410dup	ClinVar
CPLANE1	Q9H799	p.Ile980Val	rs956289118	missense variant	-	NC_000005.10:g.37206408T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile980Thr	rs1160747089	missense variant	-	NC_000005.10:g.37206407A>G	gnomAD
CPLANE1	Q9H799	p.His984Arg	rs1314490904	missense variant	-	NC_000005.10:g.37206395T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser985Cys	rs1329807288	missense variant	-	NC_000005.10:g.37206392G>C	TOPMed
CPLANE1	Q9H799	p.Ser985Pro	rs1379745252	missense variant	-	NC_000005.10:g.37206393A>G	gnomAD
CPLANE1	Q9H799	p.Lys986Gln	rs1342753709	missense variant	-	NC_000005.10:g.37206390T>G	gnomAD
CPLANE1	Q9H799	p.Val987Gly	rs1176915573	missense variant	-	NC_000005.10:g.37206386A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser989Arg	rs1462822702	missense variant	-	NC_000005.10:g.37206381T>G	gnomAD
CPLANE1	Q9H799	p.Ser989Gly	rs1462822702	missense variant	-	NC_000005.10:g.37206381T>C	gnomAD
CPLANE1	Q9H799	p.Val991Ile	rs1238203196	missense variant	-	NC_000005.10:g.37206375C>T	gnomAD
CPLANE1	Q9H799	p.Gln994Glu	rs1209703558	missense variant	-	NC_000005.10:g.37206366G>C	gnomAD
CPLANE1	Q9H799	p.Trp1000Leu	RCV000201737	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206347C>A	ClinVar
CPLANE1	Q9H799	p.Trp1000Leu	rs773362418	missense variant	-	NC_000005.10:g.37206347C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp1000Gly	rs1240740708	missense variant	-	NC_000005.10:g.37206348A>C	gnomAD
CPLANE1	Q9H799	p.Thr1001Ala	rs772005320	missense variant	-	NC_000005.10:g.37206345T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1003Ter	rs863225162	stop gained	-	NC_000005.10:g.37206339C>A	-
CPLANE1	Q9H799	p.Glu1003Ter	RCV000201644	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206339C>A	ClinVar
CPLANE1	Q9H799	p.Leu1006Phe	rs1301839758	missense variant	-	NC_000005.10:g.37206330G>A	gnomAD
CPLANE1	Q9H799	p.Leu1009Pro	rs1300486446	missense variant	-	NC_000005.10:g.37206320A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1010Tyr	rs1420827349	missense variant	-	NC_000005.10:g.37206317A>T	gnomAD
CPLANE1	Q9H799	p.Gly1013Ser	rs1360522942	missense variant	-	NC_000005.10:g.37206309C>T	gnomAD
CPLANE1	Q9H799	p.Gly1013Cys	rs1360522942	missense variant	-	NC_000005.10:g.37206309C>A	gnomAD
CPLANE1	Q9H799	p.Leu1014Val	rs969126655	missense variant	-	NC_000005.10:g.37206306G>C	-
CPLANE1	Q9H799	p.Leu1014Pro	rs1197597342	missense variant	-	NC_000005.10:g.37206305A>G	TOPMed
CPLANE1	Q9H799	p.Leu1014Val	RCV000555836	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37206306G>C	ClinVar
CPLANE1	Q9H799	p.Val1019Gly	rs76021509	missense variant	-	NC_000005.10:g.37206290A>C	TOPMed
CPLANE1	Q9H799	p.Val1019Ala	rs76021509	missense variant	-	NC_000005.10:g.37206290A>G	TOPMed
CPLANE1	Q9H799	p.Leu1021Trp	rs1473872367	missense variant	-	NC_000005.10:g.37206284A>C	TOPMed
CPLANE1	Q9H799	p.Ala1022Val	rs1181461470	missense variant	-	NC_000005.10:g.37206281G>A	gnomAD
CPLANE1	Q9H799	p.Lys1024Glu	rs962053628	missense variant	-	NC_000005.10:g.37206276T>C	TOPMed
CPLANE1	Q9H799	p.Lys1024Arg	rs1471953664	missense variant	-	NC_000005.10:g.37206275T>C	gnomAD
CPLANE1	Q9H799	p.Leu1025Phe	rs1243607309	missense variant	-	NC_000005.10:g.37206273G>A	gnomAD
CPLANE1	Q9H799	p.Leu1025Pro	rs1411699843	missense variant	-	NC_000005.10:g.37206272A>G	TOPMed
CPLANE1	Q9H799	p.Gly1026Ala	rs1015914518	missense variant	-	NC_000005.10:g.37206269C>G	TOPMed
CPLANE1	Q9H799	p.Trp1028Ter	rs1217138915	stop gained	-	NC_000005.10:g.37206262C>T	gnomAD
CPLANE1	Q9H799	p.Thr1030Met	rs370057798	missense variant	-	NC_000005.10:g.37206257G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1034Val	rs965483152	missense variant	-	NC_000005.10:g.37206246T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1034Thr	rs1404945116	missense variant	-	NC_000005.10:g.37206245A>G	TOPMed
CPLANE1	Q9H799	p.Gly1035Ala	rs1019442092	missense variant	-	NC_000005.10:g.37206242C>G	gnomAD
CPLANE1	Q9H799	p.Ala1037Gly	rs1364362627	missense variant	-	NC_000005.10:g.37206236G>C	gnomAD
CPLANE1	Q9H799	p.Gln1039Ter	rs1161096932	stop gained	-	NC_000005.10:g.37206231G>A	gnomAD
CPLANE1	Q9H799	p.Lys1043Gln	rs528530069	missense variant	-	NC_000005.10:g.37206219T>G	1000Genomes
CPLANE1	Q9H799	p.Arg1044Ter	RCV000201725	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37206215_37206216insT	ClinVar
CPLANE1	Q9H799	p.Arg1044His	rs779754977	missense variant	-	NC_000005.10:g.37206215C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1044Cys	rs376987361	missense variant	-	NC_000005.10:g.37206216G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1045Gly	rs1280487370	missense variant	-	NC_000005.10:g.37206212T>C	gnomAD
CPLANE1	Q9H799	p.Asn1047Ser	rs1400923516	missense variant	-	NC_000005.10:g.37206206T>C	gnomAD
CPLANE1	Q9H799	p.Phe1048Leu	rs769461781	missense variant	-	NC_000005.10:g.37206204A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1049Val	rs887015086	missense variant	-	NC_000005.10:g.37206201T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1049Leu	rs887015086	missense variant	-	NC_000005.10:g.37206201T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1049Ile	rs200896462	missense variant	-	NC_000005.10:g.37206199C>T	gnomAD
CPLANE1	Q9H799	p.Ser1051Thr	rs1178037372	missense variant	-	NC_000005.10:g.37205453A>T	gnomAD
CPLANE1	Q9H799	p.Lys1052Arg	rs754271101	missense variant	-	NC_000005.10:g.37205449T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1054Met	rs1410870241	missense variant	-	NC_000005.10:g.37205443T>A	gnomAD
CPLANE1	Q9H799	p.Ser1055Ile	rs1189416710	missense variant	-	NC_000005.10:g.37205440C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1055Gly	rs1266505643	missense variant	-	NC_000005.10:g.37205441T>C	gnomAD
CPLANE1	Q9H799	p.Leu1060Phe	rs1197590494	missense variant	-	NC_000005.10:g.37205426G>A	gnomAD
CPLANE1	Q9H799	p.Arg1061His	rs1201581872	missense variant	-	NC_000005.10:g.37205422C>T	TOPMed
CPLANE1	Q9H799	p.Arg1061Cys	rs199563006	missense variant	-	NC_000005.10:g.37205423G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1062Leu	rs1406242772	missense variant	-	NC_000005.10:g.37205420T>G	gnomAD
CPLANE1	Q9H799	p.Ala1065Glu	rs1242248719	missense variant	-	NC_000005.10:g.37205410G>T	TOPMed
CPLANE1	Q9H799	p.Gln1066Arg	rs369082275	missense variant	-	NC_000005.10:g.37205407T>C	gnomAD
CPLANE1	Q9H799	p.Gln1066His	rs1465075046	missense variant	-	NC_000005.10:g.37205406C>G	TOPMed
CPLANE1	Q9H799	p.Ile1067Met	rs1239997325	missense variant	-	NC_000005.10:g.37205403A>C	TOPMed
CPLANE1	Q9H799	p.Ile1067Leu	rs1190026032	missense variant	-	NC_000005.10:g.37205405T>G	TOPMed
CPLANE1	Q9H799	p.Gly1077Asp	rs1301115182	missense variant	-	NC_000005.10:g.37205374C>T	gnomAD
CPLANE1	Q9H799	p.Gln1078His	rs756432435	missense variant	-	NC_000005.10:g.37205370T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1080Gly	rs1172631763	missense variant	-	NC_000005.10:g.37205365G>C	TOPMed
CPLANE1	Q9H799	p.Ser1081Pro	rs1446297280	missense variant	-	NC_000005.10:g.37205363A>G	gnomAD
CPLANE1	Q9H799	p.Leu1082Ser	rs943993886	missense variant	-	NC_000005.10:g.37205359A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1088Ile	rs1389757083	missense variant	-	NC_000005.10:g.37205340C>T	TOPMed
CPLANE1	Q9H799	p.Ser1090Leu	rs1376881560	missense variant	-	NC_000005.10:g.37205335G>A	gnomAD
CPLANE1	Q9H799	p.Tyr1092Ser	rs1173823587	missense variant	-	NC_000005.10:g.37205329T>G	gnomAD
CPLANE1	Q9H799	p.Phe1095Tyr	rs767757162	missense variant	-	NC_000005.10:g.37205320A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1096Ile	rs1036608976	missense variant	-	NC_000005.10:g.37205317G>A	TOPMed
CPLANE1	Q9H799	p.Asp1097Asn	rs1380357933	missense variant	-	NC_000005.10:g.37205315C>T	gnomAD
CPLANE1	Q9H799	p.Pro1098His	rs780671780	missense variant	-	NC_000005.10:g.37201805G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1099Val	RCV000406412	missense variant	-	NC_000005.10:g.37201803T>C	ClinVar
CPLANE1	Q9H799	p.Ile1099Thr	rs756480354	missense variant	-	NC_000005.10:g.37201802A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1099Val	rs768197468	missense variant	-	NC_000005.10:g.37201803T>C	gnomAD
CPLANE1	Q9H799	p.Val1111Ile	rs1378437370	missense variant	-	NC_000005.10:g.37201767C>T	TOPMed
CPLANE1	Q9H799	p.Gln1112Glu	rs538177758	missense variant	-	NC_000005.10:g.37201764G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1112Lys	rs538177758	missense variant	-	NC_000005.10:g.37201764G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1114Glu	RCV000368547	missense variant	-	NC_000005.10:g.37201757A>T	ClinVar
CPLANE1	Q9H799	p.Val1114Glu	rs746467519	missense variant	-	NC_000005.10:g.37201757A>T	-
CPLANE1	Q9H799	p.Ala1117Thr	rs1348576437	missense variant	-	NC_000005.10:g.37201749C>T	gnomAD
CPLANE1	Q9H799	p.Ala1117Val	rs764120813	missense variant	-	NC_000005.10:g.37201748G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1122Asn	rs775457117	missense variant	-	NC_000005.10:g.37201734C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1122Gly	rs1401548587	missense variant	-	NC_000005.10:g.37201733T>C	gnomAD
CPLANE1	Q9H799	p.Asp1124Glu	rs527486565	missense variant	-	NC_000005.10:g.37201726A>C	1000Genomes
CPLANE1	Q9H799	p.Ile1125Met	rs1417822500	missense variant	-	NC_000005.10:g.37201723A>C	gnomAD
CPLANE1	Q9H799	p.Ile1125Thr	rs765146058	missense variant	-	NC_000005.10:g.37201724A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1125Val	rs1340915184	missense variant	-	NC_000005.10:g.37201725T>C	gnomAD
CPLANE1	Q9H799	p.Leu1126Val	rs759320408	missense variant	-	NC_000005.10:g.37201722G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1127Ter	rs375009168	stop gained	-	NC_000005.10:g.37201718G>T	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1127Leu	RCV000501748	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37201718G>A	ClinVar
CPLANE1	Q9H799	p.Ser1127Leu	RCV000521353	missense variant	-	NC_000005.10:g.37201718G>A	ClinVar
CPLANE1	Q9H799	p.Ser1127Leu	rs375009168	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37201718G>A	UniProt,dbSNP
CPLANE1	Q9H799	p.Ser1127Leu	VAR_072553	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37201718G>A	UniProt
CPLANE1	Q9H799	p.Ser1127Leu	rs375009168	missense variant	-	NC_000005.10:g.37201718G>A	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1127Ala	rs776423792	missense variant	-	NC_000005.10:g.37201719A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1127Ter	RCV000288858	nonsense	-	NC_000005.10:g.37201718G>T	ClinVar
CPLANE1	Q9H799	p.Thr1129Ala	rs1376836151	missense variant	-	NC_000005.10:g.37201713T>C	TOPMed
CPLANE1	Q9H799	p.Phe1130Ser	rs984628582	missense variant	-	NC_000005.10:g.37201709A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1132Pro	rs772877798	missense variant	-	NC_000005.10:g.37201703A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1132Phe	rs1039665987	missense variant	-	NC_000005.10:g.37201704G>A	TOPMed
CPLANE1	Q9H799	p.Asp1135Val	rs780763762	missense variant	-	NC_000005.10:g.37201694T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1135Tyr	rs747635859	missense variant	-	NC_000005.10:g.37201695C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1135Glu	rs756639207	missense variant	-	NC_000005.10:g.37201693G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1136Ter	RCV000689626	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37201691del	ClinVar
CPLANE1	Q9H799	p.Ala1137Val	rs1210576061	missense variant	-	NC_000005.10:g.37201688G>A	gnomAD
CPLANE1	Q9H799	p.Ala1137Thr	rs1008545236	missense variant	-	NC_000005.10:g.37201689C>T	TOPMed
CPLANE1	Q9H799	p.Lys1138Glu	rs746221254	missense variant	-	NC_000005.10:g.37201686T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Phe1140Leu	rs150425494	missense variant	-	NC_000005.10:g.37201680A>G	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1141Asn	rs1220722758	missense variant	-	NC_000005.10:g.37201676C>T	gnomAD
CPLANE1	Q9H799	p.Arg1143Lys	rs377503881	missense variant	-	NC_000005.10:g.37201670C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1149Ser	rs1277375602	missense variant	-	NC_000005.10:g.37201653G>A	gnomAD
CPLANE1	Q9H799	p.Gly1151Asp	rs1385676594	missense variant	-	NC_000005.10:g.37201646C>T	gnomAD
CPLANE1	Q9H799	p.Gly1151Ser	rs758532792	missense variant	-	NC_000005.10:g.37201647C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1157Ala	rs1188212004	missense variant	-	NC_000005.10:g.37201629G>C	TOPMed
CPLANE1	Q9H799	p.Cys1161Arg	rs765095201	missense variant	-	NC_000005.10:g.37201617A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1164Ser	rs147670074	missense variant	-	NC_000005.10:g.37201608G>A	gnomAD
CPLANE1	Q9H799	p.Pro1164Thr	rs147670074	missense variant	-	NC_000005.10:g.37201608G>T	gnomAD
CPLANE1	Q9H799	p.Ala1165Val	rs759463156	missense variant	-	NC_000005.10:g.37201604G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1166Thr	rs201653949	missense variant	-	NC_000005.10:g.37201601A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1168Asn	rs1200221535	missense variant	-	NC_000005.10:g.37201595C>T	gnomAD
CPLANE1	Q9H799	p.Gly1172Arg	rs1345711681	missense variant	-	NC_000005.10:g.37198860C>G	gnomAD
CPLANE1	Q9H799	p.Gly1172Ser	rs1345711681	missense variant	-	NC_000005.10:g.37198860C>T	gnomAD
CPLANE1	Q9H799	p.Gly1172Asp	rs766202411	missense variant	-	NC_000005.10:g.37198859C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1174Tyr	rs760601336	missense variant	-	NC_000005.10:g.37198854C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1175Phe	rs367962908	missense variant	-	NC_000005.10:g.37198851G>A	ESP,ExAC
CPLANE1	Q9H799	p.Lys1178Asn	rs144890880	missense variant	-	NC_000005.10:g.37198840T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1182Ser	rs768254433	missense variant	-	NC_000005.10:g.37198829T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1182Ile	rs768254433	missense variant	-	NC_000005.10:g.37198829T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1183Ser	rs762349115	missense variant	-	NC_000005.10:g.37198826T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1184His	rs548645125	missense variant	-	NC_000005.10:g.37198823C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1184Leu	rs548645125	missense variant	-	NC_000005.10:g.37198823C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1184Cys	rs1434631255	missense variant	-	NC_000005.10:g.37198824G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1186Arg	rs747382965	missense variant	-	NC_000005.10:g.37198817T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1187Ile	rs1181751560	missense variant	-	NC_000005.10:g.37198815C>T	TOPMed
CPLANE1	Q9H799	p.Ser1188Cys	rs1044536894	missense variant	-	NC_000005.10:g.37198811G>C	gnomAD
CPLANE1	Q9H799	p.Ile1190Val	rs1418793562	missense variant	-	NC_000005.10:g.37198806T>C	TOPMed
CPLANE1	Q9H799	p.Gln1192Ter	rs1162813263	stop gained	-	NC_000005.10:g.37198800G>A	TOPMed
CPLANE1	Q9H799	p.Gln1192Arg	rs778057793	missense variant	-	NC_000005.10:g.37198799T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1193Cys	rs149170427	missense variant	-	NC_000005.10:g.37198797G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1193His	rs751692515	missense variant	-	NC_000005.10:g.37198796C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1193Cys	RCV000646706	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37198797G>A	ClinVar
CPLANE1	Q9H799	p.Val1194Leu	rs778969792	missense variant	-	NC_000005.10:g.37198794C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1196Arg	VAR_076778	Missense	-	-	UniProt
CPLANE1	Q9H799	p.Arg1199Trp	rs374075447	missense variant	-	NC_000005.10:g.37198779G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1199Trp	RCV000378181	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37198779G>A	ClinVar
CPLANE1	Q9H799	p.Arg1199Gln	rs569380288	missense variant	-	NC_000005.10:g.37198778C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1200Glu	rs141153181	missense variant	-	NC_000005.10:g.37198775G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1200Val	rs141153181	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37198775G>A	UniProt,dbSNP
CPLANE1	Q9H799	p.Ala1200Val	VAR_077558	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37198775G>A	UniProt
CPLANE1	Q9H799	p.Ala1200Val	rs141153181	missense variant	-	NC_000005.10:g.37198775G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1200Val	RCV000255261	missense variant	-	NC_000005.10:g.37198775G>A	ClinVar
CPLANE1	Q9H799	p.Ala1200Val	RCV000201619	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37198775G>A	ClinVar
CPLANE1	Q9H799	p.Gln1202Pro	rs1355627908	missense variant	-	NC_000005.10:g.37198769T>G	TOPMed
CPLANE1	Q9H799	p.Gln1202Ter	rs750256343	stop gained	-	NC_000005.10:g.37198770G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys1203Tyr	rs1285153556	missense variant	-	NC_000005.10:g.37198766C>T	gnomAD
CPLANE1	Q9H799	p.Cys1203Arg	rs1234733049	missense variant	-	NC_000005.10:g.37198767A>G	TOPMed
CPLANE1	Q9H799	p.Ser1204Phe	rs370215852	missense variant	-	NC_000005.10:g.37198763G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1206Ser	rs751276020	missense variant	-	NC_000005.10:g.37198758G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1207Ile	rs1420878101	missense variant	-	NC_000005.10:g.37198755C>T	gnomAD
CPLANE1	Q9H799	p.Val1207Ala	rs763642816	missense variant	-	NC_000005.10:g.37198754A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1208Val	rs1253543807	missense variant	-	NC_000005.10:g.37198751G>A	TOPMed
CPLANE1	Q9H799	p.Gln1209Arg	rs762591555	missense variant	-	NC_000005.10:g.37198748T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1209Pro	rs762591555	missense variant	-	NC_000005.10:g.37198748T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1209Pro	RCV000499935	missense variant	-	NC_000005.10:g.37198748T>G	ClinVar
CPLANE1	Q9H799	p.Trp1210Arg	rs774797422	missense variant	-	NC_000005.10:g.37198746A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1214Ter	rs1258500319	stop gained	-	NC_000005.10:g.37198734G>A	TOPMed
CPLANE1	Q9H799	p.Ala1218Thr	rs772468592	missense variant	-	NC_000005.10:g.37198722C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1219Gly	rs748487179	missense variant	-	NC_000005.10:g.37198719T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1220Glu	rs1486811354	missense variant	-	NC_000005.10:g.37198716T>C	TOPMed
CPLANE1	Q9H799	p.Met1222Thr	RCV000658399	missense variant	-	NC_000005.10:g.37198709A>G	ClinVar
CPLANE1	Q9H799	p.Met1222Thr	rs768751619	missense variant	-	NC_000005.10:g.37198709A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1222Val	rs551169453	missense variant	-	NC_000005.10:g.37198710T>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Met1222Ile	rs1223217993	missense variant	-	NC_000005.10:g.37198708C>T	gnomAD
CPLANE1	Q9H799	p.Arg1226Ter	rs749421099	stop gained	-	NC_000005.10:g.37195993G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1226Ter	RCV000493929	nonsense	-	NC_000005.10:g.37195993G>A	ClinVar
CPLANE1	Q9H799	p.Gly1229Arg	rs1057522278	missense variant	-	NC_000005.10:g.37195984C>G	-
CPLANE1	Q9H799	p.Gly1229Arg	RCV000432714	missense variant	-	NC_000005.10:g.37195984C>G	ClinVar
CPLANE1	Q9H799	p.Ser1230Phe	rs1221461456	missense variant	-	NC_000005.10:g.37195980G>A	gnomAD
CPLANE1	Q9H799	p.Leu1231Pro	rs1325366988	missense variant	-	NC_000005.10:g.37195977A>G	gnomAD
CPLANE1	Q9H799	p.Pro1236Arg	rs1438970950	missense variant	-	NC_000005.10:g.37195962G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1236Leu	rs1438970950	missense variant	-	NC_000005.10:g.37195962G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1237Leu	rs376959659	missense variant	-	NC_000005.10:g.37195960A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1239Leu	rs745930406	missense variant	-	NC_000005.10:g.37195953T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1239Pro	rs745930406	missense variant	-	NC_000005.10:g.37195953T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1239Arg	rs745930406	missense variant	-	NC_000005.10:g.37195953T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1243Ser	rs1384765402	missense variant	-	NC_000005.10:g.37195941T>C	TOPMed
CPLANE1	Q9H799	p.Gly1248Asp	RCV000544915	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37195926C>T	ClinVar
CPLANE1	Q9H799	p.Gly1248Val	rs72736758	missense variant	-	NC_000005.10:g.37195926C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1248Ser	rs770925354	missense variant	-	NC_000005.10:g.37195927C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1248Asp	rs72736758	missense variant	-	NC_000005.10:g.37195926C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1248Asp	RCV000145359	missense variant	-	NC_000005.10:g.37195926C>T	ClinVar
CPLANE1	Q9H799	p.Ile1249Asn	rs1447664633	missense variant	-	NC_000005.10:g.37195923A>T	gnomAD
CPLANE1	Q9H799	p.Ala1250Pro	rs752334335	missense variant	-	NC_000005.10:g.37195921C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1250Thr	rs752334335	missense variant	-	NC_000005.10:g.37195921C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1255Arg	rs1197175701	missense variant	-	NC_000005.10:g.37195906C>T	TOPMed
CPLANE1	Q9H799	p.Ala1257Asp	rs527328313	missense variant	-	NC_000005.10:g.37195899G>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.His1260Tyr	rs768012177	missense variant	-	NC_000005.10:g.37195891G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1260Asp	rs768012177	missense variant	-	NC_000005.10:g.37195891G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1261Arg	rs1189719264	missense variant	-	NC_000005.10:g.37195887T>C	gnomAD
CPLANE1	Q9H799	p.Leu1262Ile	rs1313359795	missense variant	-	NC_000005.10:g.37195885G>T	gnomAD
CPLANE1	Q9H799	p.Asp1263His	rs751975523	missense variant	-	NC_000005.10:g.37195882C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1263Asn	rs751975523	missense variant	-	NC_000005.10:g.37195882C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1266Ala	rs1310199621	missense variant	-	NC_000005.10:g.37195873A>C	gnomAD
CPLANE1	Q9H799	p.Ile1267Val	rs763344941	missense variant	-	NC_000005.10:g.37195870T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1267Asn	rs1212662578	missense variant	-	NC_000005.10:g.37195869A>T	gnomAD
CPLANE1	Q9H799	p.Ala1269Val	rs1304431838	missense variant	-	NC_000005.10:g.37195863G>A	gnomAD
CPLANE1	Q9H799	p.Ala1269Pro	rs775914551	missense variant	-	NC_000005.10:g.37195864C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1270Thr	rs1466483851	missense variant	-	NC_000005.10:g.37195860A>G	gnomAD
CPLANE1	Q9H799	p.Ile1270Val	rs1391167819	missense variant	-	NC_000005.10:g.37195861T>C	TOPMed
CPLANE1	Q9H799	p.Glu1275Gly	rs1354601410	missense variant	-	NC_000005.10:g.37187830T>C	gnomAD
CPLANE1	Q9H799	p.Ala1278Val	rs1285942232	missense variant	-	NC_000005.10:g.37187821G>A	gnomAD
CPLANE1	Q9H799	p.Cys1280Tyr	rs149685637	missense variant	-	NC_000005.10:g.37187815C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1282Ile	rs1554086273	missense variant	-	NC_000005.10:g.37187808C>T	-
CPLANE1	Q9H799	p.Met1282Ile	RCV000593461	missense variant	-	NC_000005.10:g.37187808C>T	ClinVar
CPLANE1	Q9H799	p.Val1285Ile	rs750886653	missense variant	-	NC_000005.10:g.37187801C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1286His	rs139464953	missense variant	-	NC_000005.10:g.37187797C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1286Gly	rs757814360	missense variant	-	NC_000005.10:g.37187798G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1286Cys	rs757814360	missense variant	-	NC_000005.10:g.37187798G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1287His	rs606231261	missense variant	-	NC_000005.10:g.37187795C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1287His	RCV000144861	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187795C>G	ClinVar
CPLANE1	Q9H799	p.Tyr1291Cys	rs372625524	missense variant	-	NC_000005.10:g.37187782T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys1293Tyr	rs1430788919	missense variant	-	NC_000005.10:g.37187776C>T	TOPMed
CPLANE1	Q9H799	p.Gln1295Pro	rs1262508455	missense variant	-	NC_000005.10:g.37187770T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1297Pro	rs765570914	missense variant	-	NC_000005.10:g.37187764T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1299Thr	rs759784464	missense variant	-	NC_000005.10:g.37187759C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1303Ala	rs1333838533	missense variant	-	NC_000005.10:g.37187746A>G	gnomAD
CPLANE1	Q9H799	p.Glu1310Gln	rs1408467437	missense variant	-	NC_000005.10:g.37187566C>G	TOPMed
CPLANE1	Q9H799	p.Val1311Met	rs372325164	missense variant	-	NC_000005.10:g.37187563C>T	TOPMed
CPLANE1	Q9H799	p.Glu1312Lys	rs766614269	missense variant	-	NC_000005.10:g.37187560C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1312Gln	rs766614269	missense variant	-	NC_000005.10:g.37187560C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1313Leu	rs1011254847	missense variant	-	NC_000005.10:g.37187557A>G	TOPMed
CPLANE1	Q9H799	p.Ser1315Phe	rs1214966380	missense variant	-	NC_000005.10:g.37187550G>A	TOPMed
CPLANE1	Q9H799	p.Cys1316Tyr	rs760729964	missense variant	-	NC_000005.10:g.37187547C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1317Val	rs1474739966	missense variant	-	NC_000005.10:g.37187545T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1318Val	rs773273065	missense variant	-	NC_000005.10:g.37187542T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1320Gln	rs767365216	missense variant	-	NC_000005.10:g.37187534G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys1321Ser	rs1251315523	missense variant	-	NC_000005.10:g.37187533A>T	gnomAD
CPLANE1	Q9H799	p.Glu1326Gln	rs774161604	missense variant	-	NC_000005.10:g.37187518C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp1327Cys	rs899509090	missense variant	-	NC_000005.10:g.37187513C>A	TOPMed
CPLANE1	Q9H799	p.Ala1328Ser	rs768480018	missense variant	-	NC_000005.10:g.37187512C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1328Thr	rs768480018	missense variant	-	NC_000005.10:g.37187512C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1336Trp	rs367543061	missense variant	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37187488G>A	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1336Gln	rs749057824	missense variant	-	NC_000005.10:g.37187487C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1336Trp	rs367543061	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37187488G>A	UniProt,dbSNP
CPLANE1	Q9H799	p.Arg1336Trp	VAR_068165	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37187488G>A	UniProt
CPLANE1	Q9H799	p.Arg1336Trp	RCV000522403	missense variant	-	NC_000005.10:g.37187488G>A	ClinVar
CPLANE1	Q9H799	p.Phe1337Leu	rs775061417	missense variant	-	NC_000005.10:g.37187485A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1339Ser	rs1336701878	missense variant	-	NC_000005.10:g.37187478T>C	gnomAD
CPLANE1	Q9H799	p.Met1340Thr	rs769423338	missense variant	-	NC_000005.10:g.37187475A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1342Lys	rs1475996936	missense variant	-	NC_000005.10:g.37187470C>T	TOPMed
CPLANE1	Q9H799	p.Gln1345Ter	rs1408712462	stop gained	-	NC_000005.10:g.37187461G>A	gnomAD
CPLANE1	Q9H799	p.Gln1345Arg	rs869312898	missense variant	-	NC_000005.10:g.37187460T>C	-
CPLANE1	Q9H799	p.Gln1345Arg	rs869312898	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187460T>C	UniProt,dbSNP
CPLANE1	Q9H799	p.Gln1345Arg	VAR_076779	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187460T>C	UniProt
CPLANE1	Q9H799	p.Gln1345Arg	RCV000210418	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37187460T>C	ClinVar
CPLANE1	Q9H799	p.Asp1346Asn	rs1184183855	missense variant	-	NC_000005.10:g.37187458C>T	gnomAD
CPLANE1	Q9H799	p.Ile1347Leu	rs745385982	missense variant	-	NC_000005.10:g.37187455T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1348Val	rs1174835605	missense variant	-	NC_000005.10:g.37187452T>C	gnomAD
CPLANE1	Q9H799	p.Ser1350Thr	rs1434137839	missense variant	-	NC_000005.10:g.37187445C>G	gnomAD
CPLANE1	Q9H799	p.Ile1352Val	rs146808769	missense variant	-	NC_000005.10:g.37187440T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1352Phe	rs146808769	missense variant	-	NC_000005.10:g.37187440T>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1352Thr	rs759005825	missense variant	-	NC_000005.10:g.37187439A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1353Arg	rs748709023	missense variant	-	NC_000005.10:g.37187437C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1358Met	rs145018253	missense variant	-	NC_000005.10:g.37187420G>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1358Val	rs1177512793	missense variant	-	NC_000005.10:g.37187422T>C	TOPMed
CPLANE1	Q9H799	p.Ala1362Val	rs780415009	missense variant	-	NC_000005.10:g.37186390G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1364Val	rs376146201	missense variant	-	NC_000005.10:g.37186385T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1366Met	rs781367784	missense variant	-	NC_000005.10:g.37186379C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1368Thr	rs373443151	missense variant	-	NC_000005.10:g.37186373C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1368Val	rs1431507702	missense variant	-	NC_000005.10:g.37186372G>A	gnomAD
CPLANE1	Q9H799	p.Val1375Leu	rs546036802	missense variant	-	NC_000005.10:g.37186352C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1375Met	rs546036802	missense variant	-	NC_000005.10:g.37186352C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1377Phe	rs889635214	missense variant	-	NC_000005.10:g.37186346C>A	TOPMed
CPLANE1	Q9H799	p.Pro1378Ser	rs752467139	missense variant	-	NC_000005.10:g.37186343G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1380Lys	rs1425618127	missense variant	-	NC_000005.10:g.37186336C>T	gnomAD
CPLANE1	Q9H799	p.Lys1382Asn	rs776405287	missense variant	-	NC_000005.10:g.37186329T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr1383His	rs1239905562	missense variant	-	NC_000005.10:g.37186328A>G	gnomAD
CPLANE1	Q9H799	p.His1384Tyr	rs376548658	missense variant	-	NC_000005.10:g.37186325G>A	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1386Phe	rs769304117	missense variant	-	NC_000005.10:g.37186319G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1387Tyr	rs749760656	missense variant	-	NC_000005.10:g.37186316G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1388Glu	rs1339146627	missense variant	-	NC_000005.10:g.37186313G>C	TOPMed
CPLANE1	Q9H799	p.Gln1388Arg	rs1361328165	missense variant	-	NC_000005.10:g.37186312T>C	gnomAD
CPLANE1	Q9H799	p.Leu1390Val	rs780391877	missense variant	-	NC_000005.10:g.37186307G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1390His	rs1443368612	missense variant	-	NC_000005.10:g.37186306A>T	gnomAD
CPLANE1	Q9H799	p.His1392Gln	rs1325496229	missense variant	-	NC_000005.10:g.37186299G>C	gnomAD
CPLANE1	Q9H799	p.His1392Arg	rs753392667	missense variant	-	NC_000005.10:g.37186300T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1394Ala	rs113930638	missense variant	-	NC_000005.10:g.37186294A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1394Ile	rs770242030	missense variant	-	NC_000005.10:g.37186295C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1395Leu	rs781459642	missense variant	-	NC_000005.10:g.37186292C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1395Met	rs781459642	missense variant	-	NC_000005.10:g.37186292C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1397Arg	rs1454337663	missense variant	-	NC_000005.10:g.37186286C>T	gnomAD
CPLANE1	Q9H799	p.Pro1398Leu	rs1478531273	missense variant	-	NC_000005.10:g.37185076G>A	TOPMed
CPLANE1	Q9H799	p.Pro1398Ser	rs770196773	missense variant	-	NC_000005.10:g.37185077G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1404Ile	rs1371963347	missense variant	-	NC_000005.10:g.37185057C>T	TOPMed
CPLANE1	Q9H799	p.Val1406Asp	rs746246732	missense variant	-	NC_000005.10:g.37185052A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1407Ala	rs1478669127	missense variant	-	NC_000005.10:g.37185049A>G	TOPMed
CPLANE1	Q9H799	p.Met1408Val	rs538511134	missense variant	-	NC_000005.10:g.37185047T>C	1000Genomes
CPLANE1	Q9H799	p.Val1416Met	rs376365094	missense variant	-	NC_000005.10:g.37185023C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1416Ala	rs1232354293	missense variant	-	NC_000005.10:g.37185022A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1418Thr	rs748175071	missense variant	-	NC_000005.10:g.37185017C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1419Gln	rs1390549177	missense variant	-	NC_000005.10:g.37185013A>T	gnomAD
CPLANE1	Q9H799	p.Arg1421His	rs139594497	missense variant	-	NC_000005.10:g.37185007C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1421Cys	rs778919269	missense variant	-	NC_000005.10:g.37185008G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1423His	rs1317786727	missense variant	-	NC_000005.10:g.37185000C>G	TOPMed
CPLANE1	Q9H799	p.Gln1423Lys	rs766231962	missense variant	-	NC_000005.10:g.37185002G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1424Gly	rs1171271425	missense variant	-	NC_000005.10:g.37184999T>C	gnomAD
CPLANE1	Q9H799	p.Arg1424Ile	rs1454898277	missense variant	-	NC_000005.10:g.37184998C>A	gnomAD
CPLANE1	Q9H799	p.Ile1426Thr	RCV000625729	missense variant	Inborn genetic diseases	NC_000005.10:g.37184992A>G	ClinVar
CPLANE1	Q9H799	p.Ile1426Thr	rs1157940387	missense variant	-	NC_000005.10:g.37184992A>G	gnomAD
CPLANE1	Q9H799	p.Ile1426Val	rs1363959972	missense variant	-	NC_000005.10:g.37184993T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1427Ala	rs1282129143	missense variant	-	NC_000005.10:g.37184989C>G	gnomAD
CPLANE1	Q9H799	p.Ser1428Tyr	rs1418824450	missense variant	-	NC_000005.10:g.37184986G>T	gnomAD
CPLANE1	Q9H799	p.Phe1429Leu	rs755938936	missense variant	-	NC_000005.10:g.37184982A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1431Met	rs1276479001	missense variant	-	NC_000005.10:g.37184978C>T	TOPMed
CPLANE1	Q9H799	p.Asn1432Ser	rs1486318076	missense variant	-	NC_000005.10:g.37184974T>C	gnomAD
CPLANE1	Q9H799	p.Ile1433Met	rs1198738179	missense variant	-	NC_000005.10:g.37184970T>C	gnomAD
CPLANE1	Q9H799	p.Ile1433Thr	rs750146106	missense variant	-	NC_000005.10:g.37184971A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Trp1434Arg	rs148552198	missense variant	-	NC_000005.10:g.37184969A>G	ESP,TOPMed
CPLANE1	Q9H799	p.Pro1436Ser	RCV000703873	missense variant	-	NC_000005.10:g.37184963G>A	ClinVar
CPLANE1	Q9H799	p.Pro1436Ser	rs183021118	missense variant	-	NC_000005.10:g.37184963G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1436Ser	RCV000366707	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37184963G>A	ClinVar
CPLANE1	Q9H799	p.Pro1436Ala	rs183021118	missense variant	-	NC_000005.10:g.37184963G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1437Thr	RCV000533691	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37184959A>G	ClinVar
CPLANE1	Q9H799	p.Ile1437Val	rs773668280	missense variant	-	NC_000005.10:g.37184960T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1437Thr	rs6859950	missense variant	-	NC_000005.10:g.37184959A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1437Thr	RCV000145364	missense variant	-	NC_000005.10:g.37184959A>G	ClinVar
CPLANE1	Q9H799	p.Glu1439Ter	RCV000607941	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37184956del	ClinVar
CPLANE1	Q9H799	p.Lys1441Arg	rs372201329	missense variant	-	NC_000005.10:g.37184947T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1442Ala	rs1201652001	missense variant	-	NC_000005.10:g.37184945G>C	TOPMed
CPLANE1	Q9H799	p.Pro1442Thr	rs1201652001	missense variant	-	NC_000005.10:g.37184945G>T	TOPMed
CPLANE1	Q9H799	p.Asp1443Asn	rs530026342	missense variant	-	NC_000005.10:g.37184942C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1444Gly	rs771334779	missense variant	-	NC_000005.10:g.37184938T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1445Ser	rs747364413	missense variant	-	NC_000005.10:g.37184936C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1447Arg	rs149365619	missense variant	-	NC_000005.10:g.37184930C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1448Gly	rs550561225	missense variant	-	NC_000005.10:g.37184926A>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1449Gly	rs778806312	missense variant	-	NC_000005.10:g.37184923T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1452Phe	rs138792462	missense variant	-	NC_000005.10:g.37184914G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1453Pro	rs1475744173	missense variant	-	NC_000005.10:g.37184911A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1453Gln	rs1475744173	missense variant	-	NC_000005.10:g.37184911A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1455Ter	RCV000778767	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37184910del	ClinVar
CPLANE1	Q9H799	p.Ser1456Thr	rs780113797	missense variant	-	NC_000005.10:g.37184902C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1459Thr	rs146075582	missense variant	-	NC_000005.10:g.37184893C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1460Thr	RCV000275097	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37184890C>G	ClinVar
CPLANE1	Q9H799	p.Ser1460Thr	rs886060579	missense variant	-	NC_000005.10:g.37184890C>G	-
CPLANE1	Q9H799	p.Ser1460Arg	rs1388538165	missense variant	-	NC_000005.10:g.37184891T>G	TOPMed
CPLANE1	Q9H799	p.Thr1463Ile	RCV000176587	missense variant	-	NC_000005.10:g.37184881G>A	ClinVar
CPLANE1	Q9H799	p.Thr1463Pro	rs767203223	missense variant	-	NC_000005.10:g.37184882T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1463Ala	rs767203223	missense variant	-	NC_000005.10:g.37184882T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1463Ile	rs202103224	missense variant	-	NC_000005.10:g.37184881G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1468Cys	rs150556877	missense variant	-	NC_000005.10:g.37184866G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1468Cys	RCV000369776	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37184866G>C	ClinVar
CPLANE1	Q9H799	p.Val1470Phe	rs1326484626	missense variant	-	NC_000005.10:g.37184861C>A	gnomAD
CPLANE1	Q9H799	p.Ser1472Asn	rs754402532	missense variant	-	NC_000005.10:g.37184854C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1475Gly	rs766869139	missense variant	-	NC_000005.10:g.37184845T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1476Met	rs1396140286	missense variant	-	NC_000005.10:g.37184842G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1480Ser	rs1462251885	missense variant	-	NC_000005.10:g.37184831C>A	gnomAD
CPLANE1	Q9H799	p.Ser1482Leu	rs973679173	missense variant	-	NC_000005.10:g.37184824G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1483Ala	rs772365742	missense variant	-	NC_000005.10:g.37184821A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1485Lys	rs1447744662	missense variant	-	NC_000005.10:g.37184816C>T	gnomAD
CPLANE1	Q9H799	p.Lys1486Gln	rs1255065055	missense variant	-	NC_000005.10:g.37184813T>G	gnomAD
CPLANE1	Q9H799	p.Lys1486Asn	rs1194536301	missense variant	-	NC_000005.10:g.37184811T>A	gnomAD
CPLANE1	Q9H799	p.Ser1487Asn	rs138157520	missense variant	-	NC_000005.10:g.37184809C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1487Arg	rs1023003480	missense variant	-	NC_000005.10:g.37184808A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1487Asn	RCV000520136	missense variant	-	NC_000005.10:g.37184809C>T	ClinVar
CPLANE1	Q9H799	p.Ile1491Met	rs1197470926	missense variant	-	NC_000005.10:g.37184796G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1492Phe	rs895907055	missense variant	-	NC_000005.10:g.37184794T>A	TOPMed
CPLANE1	Q9H799	p.Tyr1492Cys	rs895907055	missense variant	-	NC_000005.10:g.37184794T>C	TOPMed
CPLANE1	Q9H799	p.Gln1493Leu	rs768663702	missense variant	-	NC_000005.10:g.37184791T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1494Ile	rs1369223522	missense variant	-	NC_000005.10:g.37184788C>A	TOPMed
CPLANE1	Q9H799	p.Ala1496Val	rs1249678741	missense variant	-	NC_000005.10:g.37183694G>A	gnomAD
CPLANE1	Q9H799	p.Asn1498Asp	rs1262307874	missense variant	-	NC_000005.10:g.37183689T>C	gnomAD
CPLANE1	Q9H799	p.His1499Arg	rs763128117	missense variant	-	NC_000005.10:g.37183685T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His1499Gln	rs377114029	missense variant	-	NC_000005.10:g.37183684G>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1500Val	rs925086607	missense variant	-	NC_000005.10:g.37183683T>C	TOPMed
CPLANE1	Q9H799	p.Met1500Arg	rs372881701	missense variant	-	NC_000005.10:g.37183682A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.del1501Ter	rs1233100308	stop gained	-	NC_000005.10:g.37183680_37183681insTTTA	gnomAD
CPLANE1	Q9H799	p.Ile1505Val	rs745833276	missense variant	-	NC_000005.10:g.37183668T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1506Arg	RCV000625259	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183664T>C	ClinVar
CPLANE1	Q9H799	p.His1506Arg	rs141911199	missense variant	-	NC_000005.10:g.37183664T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1509Ala	rs1408591861	missense variant	-	NC_000005.10:g.37183656T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1510Glu	rs1219880926	missense variant	-	NC_000005.10:g.37183651A>T	gnomAD
CPLANE1	Q9H799	p.Arg1512Lys	rs1377340492	missense variant	-	NC_000005.10:g.37183646C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys1515Tyr	rs746816991	missense variant	-	NC_000005.10:g.37183637C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1516Thr	rs1361363473	missense variant	-	NC_000005.10:g.37183634T>G	gnomAD
CPLANE1	Q9H799	p.Lys1518Glu	rs777297584	missense variant	-	NC_000005.10:g.37183629T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1518Arg	rs757990951	missense variant	-	NC_000005.10:g.37183628T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1521Leu	rs138874486	missense variant	-	NC_000005.10:g.37183619G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1522Ala	rs536420243	missense variant	-	NC_000005.10:g.37183617T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1526Tyr	rs1363054900	missense variant	-	NC_000005.10:g.37183605C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1534Ile	rs757626213	missense variant	-	NC_000005.10:g.37183580G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1537Ile	rs563406970	missense variant	-	NC_000005.10:g.37183572C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Val1540Phe	rs370310194	missense variant	-	NC_000005.10:g.37183563C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1545His	RCV000480065	missense variant	-	NC_000005.10:g.37183547C>T	ClinVar
CPLANE1	Q9H799	p.Arg1545Cys	rs775743007	missense variant	-	NC_000005.10:g.37183548G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1545His	rs765457523	missense variant	-	NC_000005.10:g.37183547C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1545Gly	rs775743007	missense variant	-	NC_000005.10:g.37183548G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1548Gly	RCV000605589	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183538T>C	ClinVar
CPLANE1	Q9H799	p.Asp1548Gly	rs759649053	missense variant	-	NC_000005.10:g.37183538T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1548Ala	rs759649053	missense variant	-	NC_000005.10:g.37183538T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1551Val	rs544656011	missense variant	-	NC_000005.10:g.37183530T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1552Thr	rs1460832746	missense variant	-	NC_000005.10:g.37183526T>G	TOPMed
CPLANE1	Q9H799	p.Leu1554Arg	rs1156598682	missense variant	-	NC_000005.10:g.37183520A>C	gnomAD
CPLANE1	Q9H799	p.Leu1558Val	rs1418423844	missense variant	-	NC_000005.10:g.37183509A>C	gnomAD
CPLANE1	Q9H799	p.Leu1558Ter	rs1298587616	stop gained	-	NC_000005.10:g.37183508A>T	TOPMed
CPLANE1	Q9H799	p.Ser1559Thr	rs746797181	missense variant	-	NC_000005.10:g.37183505C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr1560His	rs772945484	missense variant	-	NC_000005.10:g.37183503A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1562Phe	rs1389387167	missense variant	-	NC_000005.10:g.37183497G>A	TOPMed
CPLANE1	Q9H799	p.Asp1565Tyr	rs1243394087	missense variant	-	NC_000005.10:g.37183488C>A	gnomAD
CPLANE1	Q9H799	p.Asp1565Val	rs1216051482	missense variant	-	NC_000005.10:g.37183487T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1567Arg	rs982993369	missense variant	-	NC_000005.10:g.37183481G>C	TOPMed
CPLANE1	Q9H799	p.Pro1567Ser	rs149158301	missense variant	-	NC_000005.10:g.37183482G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1570Thr	rs1294406868	missense variant	-	NC_000005.10:g.37183472C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1573Gly	rs148234583	missense variant	-	NC_000005.10:g.37183463T>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1573Val	rs148234583	missense variant	-	NC_000005.10:g.37183463T>A	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1574Val	rs1272066782	missense variant	-	NC_000005.10:g.37183461T>C	gnomAD
CPLANE1	Q9H799	p.Pro1575Ser	rs748824091	missense variant	-	NC_000005.10:g.37183458G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Phe1576Tyr	rs781552290	missense variant	-	NC_000005.10:g.37183454A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Phe1580Ser	rs1027538017	missense variant	-	NC_000005.10:g.37183442A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1586Gln	rs757722798	missense variant	-	NC_000005.10:g.37183425C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.His1587Arg	rs938918381	missense variant	-	NC_000005.10:g.37183421T>C	TOPMed
CPLANE1	Q9H799	p.Leu1589Phe	rs751890710	missense variant	-	NC_000005.10:g.37183416G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1589Phe	RCV000355011	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37183416G>A	ClinVar
CPLANE1	Q9H799	p.Phe1594Ser	rs758814412	missense variant	-	NC_000005.10:g.37183400A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1596Ala	rs1186525850	missense variant	-	NC_000005.10:g.37183394A>G	gnomAD
CPLANE1	Q9H799	p.Thr1598Lys	RCV000608649	missense variant	-	NC_000005.10:g.37183388G>T	ClinVar
CPLANE1	Q9H799	p.Thr1598Ala	rs1474802887	missense variant	-	NC_000005.10:g.37183389T>C	gnomAD
CPLANE1	Q9H799	p.Thr1598Lys	rs147588579	missense variant	-	NC_000005.10:g.37183388G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1598Arg	rs147588579	missense variant	-	NC_000005.10:g.37183388G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1599Ile	rs1470084982	missense variant	-	NC_000005.10:g.37183385G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1599Lys	rs1470084982	missense variant	-	NC_000005.10:g.37183385G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1601Ter	rs946036827	stop gained	-	NC_000005.10:g.37183380T>A	gnomAD
CPLANE1	Q9H799	p.Lys1601Glu	rs946036827	missense variant	-	NC_000005.10:g.37183380T>C	gnomAD
CPLANE1	Q9H799	p.Arg1602Ter	RCV000024221	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183377G>A	ClinVar
CPLANE1	Q9H799	p.Arg1602Gly	rs367543063	missense variant	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37183377G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1602Ter	rs367543063	stop gained	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37183377G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1602Gln	rs199711701	missense variant	-	NC_000005.10:g.37183376C>T	gnomAD
CPLANE1	Q9H799	p.His1603Arg	rs760625416	missense variant	-	NC_000005.10:g.37183373T>C	ExAC,TOPMed
CPLANE1	Q9H799	p.His1603Tyr	rs896453652	missense variant	-	NC_000005.10:g.37183374G>A	TOPMed
CPLANE1	Q9H799	p.Lys1606Gln	rs1215183879	missense variant	-	NC_000005.10:g.37183365T>G	gnomAD
CPLANE1	Q9H799	p.Asn1611Lys	rs773106854	missense variant	-	NC_000005.10:g.37183348A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1611Ser	rs145059484	missense variant	-	NC_000005.10:g.37183349T>C	ESP
CPLANE1	Q9H799	p.Asn1611Asp	rs990191430	missense variant	-	NC_000005.10:g.37183350T>C	gnomAD
CPLANE1	Q9H799	p.Val1612Met	rs1366531602	missense variant	-	NC_000005.10:g.37183347C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1614Ser	rs747922408	missense variant	-	NC_000005.10:g.37183339T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1614Thr	rs771898985	missense variant	-	NC_000005.10:g.37183340C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1614Ile	rs771898985	missense variant	-	NC_000005.10:g.37183340C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1616Ala	rs1356148933	missense variant	-	NC_000005.10:g.37183334C>G	gnomAD
CPLANE1	Q9H799	p.Phe1619Ser	rs1383270775	missense variant	-	NC_000005.10:g.37183325A>G	TOPMed
CPLANE1	Q9H799	p.Pro1623Leu	rs377517560	missense variant	-	NC_000005.10:g.37183313G>A	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr1626Cys	rs1394652636	missense variant	-	NC_000005.10:g.37183304T>C	gnomAD
CPLANE1	Q9H799	p.Glu1627Gly	rs768285147	missense variant	-	NC_000005.10:g.37183301T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1631Leu	RCV000646705	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37183289G>A	ClinVar
CPLANE1	Q9H799	p.Ser1631Leu	RCV000434578	missense variant	-	NC_000005.10:g.37183289G>A	ClinVar
CPLANE1	Q9H799	p.Ser1631Ter	RCV000541702	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183295dup	ClinVar
CPLANE1	Q9H799	p.Ser1631Leu	rs748759724	missense variant	-	NC_000005.10:g.37183289G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1633Pro	rs1454490404	missense variant	-	NC_000005.10:g.37183284A>G	gnomAD
CPLANE1	Q9H799	p.Asn1635Lys	rs779567146	missense variant	-	NC_000005.10:g.37183276A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1636Gly	rs747558469	missense variant	-	NC_000005.10:g.37183274T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1636Val	rs747558469	missense variant	-	NC_000005.10:g.37183274T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1640Ile	rs753046703	missense variant	-	NC_000005.10:g.37183261C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1640Val	rs758900927	missense variant	-	NC_000005.10:g.37183263T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1650Pro	rs536461045	missense variant	-	NC_000005.10:g.37183233A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1656Trp	rs1043977498	missense variant	-	NC_000005.10:g.37183215C>A	TOPMed
CPLANE1	Q9H799	p.Ile1657Met	rs767435113	missense variant	-	NC_000005.10:g.37183210G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1658Arg	rs761598092	missense variant	-	NC_000005.10:g.37183208T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1658Ile	rs761598092	missense variant	-	NC_000005.10:g.37183208T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1660Ser	rs774071769	missense variant	-	NC_000005.10:g.37183202A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu1661Ter	rs768213967	stop gained	-	NC_000005.10:g.37183199A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1662His	rs547409263	missense variant	-	NC_000005.10:g.37183195T>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1662His	RCV000625257	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37183195T>G	ClinVar
CPLANE1	Q9H799	p.Pro1664Ser	rs538648700	missense variant	-	NC_000005.10:g.37183191G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1665Leu	rs745368500	missense variant	-	NC_000005.10:g.37183187G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1666Ile	rs748543409	missense variant	-	NC_000005.10:g.37183184T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn1666Ile	RCV000503146	missense variant	-	NC_000005.10:g.37183184T>A	ClinVar
CPLANE1	Q9H799	p.Glu1667Asp	rs779294280	missense variant	-	NC_000005.10:g.37183180T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn1669Asp	rs1436271226	missense variant	-	NC_000005.10:g.37183176T>C	TOPMed
CPLANE1	Q9H799	p.Met1674Val	rs1034500146	missense variant	-	NC_000005.10:g.37183161T>C	TOPMed
CPLANE1	Q9H799	p.Gly1676Glu	rs1360544370	missense variant	-	NC_000005.10:g.37183154C>T	TOPMed
CPLANE1	Q9H799	p.Leu1677Ile	rs1483052986	missense variant	-	NC_000005.10:g.37183152A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe1678Tyr	rs1304704416	missense variant	-	NC_000005.10:g.37183148A>T	TOPMed
CPLANE1	Q9H799	p.Lys1681Arg	rs1213044055	missense variant	-	NC_000005.10:g.37183139T>C	gnomAD
CPLANE1	Q9H799	p.Gln1682His	rs780129645	missense variant	-	NC_000005.10:g.37183135T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1685Thr	RCV000405142	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37183127A>G	ClinVar
CPLANE1	Q9H799	p.Ile1685Val	rs756287700	missense variant	-	NC_000005.10:g.37183128T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1685Thr	rs750439635	missense variant	-	NC_000005.10:g.37183127A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1687Arg	rs767457866	missense variant	-	NC_000005.10:g.37183121T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys1687Thr	rs767457866	missense variant	-	NC_000005.10:g.37183121T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1689Arg	rs761691903	missense variant	-	NC_000005.10:g.37183115T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1690Val	rs751387885	missense variant	-	NC_000005.10:g.37183112T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1691Glu	rs763990143	missense variant	-	NC_000005.10:g.37183108G>C	ExAC
CPLANE1	Q9H799	p.Asp1691Gly	rs1348488187	missense variant	-	NC_000005.10:g.37183109T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1693Gly	rs1317619046	missense variant	-	NC_000005.10:g.37183104T>C	TOPMed
CPLANE1	Q9H799	p.Glu1694Asp	rs1295074686	missense variant	-	NC_000005.10:g.37183099C>A	gnomAD
CPLANE1	Q9H799	p.Cys1696Trp	rs139362705	missense variant	-	NC_000005.10:g.37183093A>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1699Arg	rs571578015	missense variant	-	NC_000005.10:g.37183085T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1700Ile	rs190100945	missense variant	-	NC_000005.10:g.37183082C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1702Pro	rs951746547	missense variant	-	NC_000005.10:g.37183077A>G	TOPMed
CPLANE1	Q9H799	p.Ile1705Thr	rs1160277331	missense variant	-	NC_000005.10:g.37183067A>G	gnomAD
CPLANE1	Q9H799	p.Ile1705Val	rs1484885661	missense variant	-	NC_000005.10:g.37183068T>C	TOPMed
CPLANE1	Q9H799	p.Phe1706Val	rs776230016	missense variant	-	NC_000005.10:g.37183065A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1709Thr	rs1187847396	missense variant	-	NC_000005.10:g.37183056G>T	TOPMed
CPLANE1	Q9H799	p.Lys1710Gln	rs1253397526	missense variant	-	NC_000005.10:g.37183053T>G	TOPMed
CPLANE1	Q9H799	p.Lys1710Arg	rs150888119	missense variant	-	NC_000005.10:g.37183052T>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1711Cys	rs1455372537	missense variant	-	NC_000005.10:g.37183049G>C	TOPMed
CPLANE1	Q9H799	p.Ile1712Val	rs748701119	missense variant	-	NC_000005.10:g.37183047T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1712Leu	rs748701119	missense variant	-	NC_000005.10:g.37183047T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1712Thr	rs1343049469	missense variant	-	NC_000005.10:g.37183046A>G	gnomAD
CPLANE1	Q9H799	p.Thr1714Ile	rs1424442518	missense variant	-	NC_000005.10:g.37183040G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys1717Tyr	rs765017990	missense variant	-	NC_000005.10:g.37183031C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1718Val	rs886060578	missense variant	-	NC_000005.10:g.37183029T>C	gnomAD
CPLANE1	Q9H799	p.Ile1718Val	RCV000340288	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37183029T>C	ClinVar
CPLANE1	Q9H799	p.Gln1723Ter	rs769127057	stop gained	-	NC_000005.10:g.37183014G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1726Glu	rs1269017314	missense variant	-	NC_000005.10:g.37183003A>C	gnomAD
CPLANE1	Q9H799	p.Ile1727Thr	rs749614170	missense variant	-	NC_000005.10:g.37183001A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1727Leu	rs1457243252	missense variant	-	NC_000005.10:g.37183002T>G	TOPMed
CPLANE1	Q9H799	p.Gln1730Ter	rs1274935542	stop gained	-	NC_000005.10:g.37182993G>A	gnomAD
CPLANE1	Q9H799	p.Asp1732Tyr	rs1339350744	missense variant	-	NC_000005.10:g.37182987C>A	gnomAD
CPLANE1	Q9H799	p.Asp1732Gly	rs756274300	missense variant	-	NC_000005.10:g.37182986T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1734Ser	rs1439099143	missense variant	-	NC_000005.10:g.37182981G>A	TOPMed
CPLANE1	Q9H799	p.Pro1734Leu	rs1383417627	missense variant	-	NC_000005.10:g.37182980G>A	gnomAD
CPLANE1	Q9H799	p.Leu1735Phe	rs1319499094	missense variant	-	NC_000005.10:g.37182976T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1735Val	rs369286097	missense variant	-	NC_000005.10:g.37182978A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu1737Pro	rs781211084	missense variant	-	NC_000005.10:g.37182971A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1739Ile	rs1386961278	missense variant	-	NC_000005.10:g.37182965G>A	gnomAD
CPLANE1	Q9H799	p.Phe1740Ser	rs1023681472	missense variant	-	NC_000005.10:g.37182962A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1742Cys	rs1208042566	missense variant	-	NC_000005.10:g.37182957T>A	TOPMed
CPLANE1	Q9H799	p.Gly1744Val	rs757297839	missense variant	-	NC_000005.10:g.37182950C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1745Gly	rs1469672651	missense variant	-	NC_000005.10:g.37182948T>C	TOPMed
CPLANE1	Q9H799	p.Met1750Leu	rs1013602304	missense variant	-	NC_000005.10:g.37182933T>G	TOPMed
CPLANE1	Q9H799	p.Arg1752Lys	rs763933855	missense variant	-	NC_000005.10:g.37182926C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1752Met	rs763933855	missense variant	-	NC_000005.10:g.37182926C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Trp1753Ter	rs758217149	stop gained	-	NC_000005.10:g.37182922C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn1755His	rs142400753	missense variant	-	NC_000005.10:g.37182918T>G	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Asn1755Asp	rs142400753	missense variant	-	NC_000005.10:g.37182918T>C	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1756Gly	rs764962678	missense variant	-	NC_000005.10:g.37182915T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1757Ser	rs760244058	missense variant	-	NC_000005.10:g.37182910C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1757Lys	rs776388467	missense variant	-	NC_000005.10:g.37182911C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys1760Arg	rs1355472894	missense variant	-	NC_000005.10:g.37182903A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1761Asn	rs770320173	missense variant	-	NC_000005.10:g.37182900C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1761Glu	rs1030990221	missense variant	-	NC_000005.10:g.37182898A>C	TOPMed
CPLANE1	Q9H799	p.Ser1762Phe	rs1342293975	missense variant	-	NC_000005.10:g.37182896G>A	gnomAD
CPLANE1	Q9H799	p.Ile1764Lys	rs140092205	missense variant	-	NC_000005.10:g.37182890A>T	ESP,TOPMed
CPLANE1	Q9H799	p.Ile1764Val	rs768980663	missense variant	-	NC_000005.10:g.37182891T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1765Ser	rs1471946440	missense variant	-	NC_000005.10:g.37182887G>C	TOPMed
CPLANE1	Q9H799	p.Glu1766Gly	rs1432514420	missense variant	-	NC_000005.10:g.37182884T>C	gnomAD
CPLANE1	Q9H799	p.Ser1768Phe	rs1328427760	missense variant	-	NC_000005.10:g.37182878G>A	gnomAD
CPLANE1	Q9H799	p.Ser1768Pro	rs1363455365	missense variant	-	NC_000005.10:g.37182879A>G	gnomAD
CPLANE1	Q9H799	p.Ser1769Phe	rs1387719071	missense variant	-	NC_000005.10:g.37182875G>A	gnomAD
CPLANE1	Q9H799	p.Glu1770Gln	rs1166315820	missense variant	-	NC_000005.10:g.37182873C>G	TOPMed
CPLANE1	Q9H799	p.Tyr1771His	RCV000304154	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37182870A>G	ClinVar
CPLANE1	Q9H799	p.Tyr1771His	rs748355456	missense variant	-	NC_000005.10:g.37182870A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1772Gly	rs79377186	missense variant	-	NC_000005.10:g.37182867T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1772Gly	RCV000406006	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37182867T>C	ClinVar
CPLANE1	Q9H799	p.Pro1773Ala	rs374839549	missense variant	-	NC_000005.10:g.37182864G>C	ESP
CPLANE1	Q9H799	p.Ile1775Asn	rs996420456	missense variant	-	NC_000005.10:g.37182857A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1776His	rs757385488	missense variant	-	NC_000005.10:g.37182854C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1776Cys	rs373075185	missense variant	-	NC_000005.10:g.37182855G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1777Ile	RCV000343798	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37182852C>T	ClinVar
CPLANE1	Q9H799	p.Val1777Leu	rs142777778	missense variant	-	NC_000005.10:g.37182852C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val1777Ile	rs142777778	missense variant	-	NC_000005.10:g.37182852C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1781Ala	rs758218745	missense variant	-	NC_000005.10:g.37182840T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1783Asp	RCV000611750	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37182833G>T	ClinVar
CPLANE1	Q9H799	p.Ala1783Asp	rs200444162	missense variant	-	NC_000005.10:g.37182833G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1787Pro	rs753598424	missense variant	-	NC_000005.10:g.37182822A>G	ExAC
CPLANE1	Q9H799	p.Leu1788Ser	rs1225726550	missense variant	-	NC_000005.10:g.37182818A>G	gnomAD
CPLANE1	Q9H799	p.Trp1789Ter	rs1288967589	stop gained	-	NC_000005.10:g.37182815C>T	TOPMed
CPLANE1	Q9H799	p.Leu1791Phe	rs77286946	missense variant	-	NC_000005.10:g.37182808C>A	ExAC,TOPMed
CPLANE1	Q9H799	p.Leu1791Phe	rs77286946	missense variant	-	NC_000005.10:g.37182808C>G	ExAC,TOPMed
CPLANE1	Q9H799	p.Glu1792Asp	rs374631246	missense variant	-	NC_000005.10:g.37182805T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1793Glu	rs1234365745	missense variant	-	NC_000005.10:g.37182804G>C	gnomAD
CPLANE1	Q9H799	p.Pro1794Leu	RCV000614286	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37182800G>A	ClinVar
CPLANE1	Q9H799	p.Pro1794Leu	rs75589774	missense variant	-	NC_000005.10:g.37182800G>A	UniProt,dbSNP
CPLANE1	Q9H799	p.Pro1794Leu	VAR_068166	missense variant	-	NC_000005.10:g.37182800G>A	UniProt
CPLANE1	Q9H799	p.Pro1794Leu	rs75589774	missense variant	-	NC_000005.10:g.37182800G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1794Leu	RCV000145368	missense variant	-	NC_000005.10:g.37182800G>A	ClinVar
CPLANE1	Q9H799	p.Tyr1795Cys	rs776036175	missense variant	-	NC_000005.10:g.37182797T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1798Lys	rs1371238390	missense variant	-	NC_000005.10:g.37182788G>T	gnomAD
CPLANE1	Q9H799	p.Tyr1799Ter	RCV000523595	nonsense	-	NC_000005.10:g.37182784A>C	ClinVar
CPLANE1	Q9H799	p.Tyr1799Ter	rs759881074	stop gained	-	NC_000005.10:g.37182784A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1799Asn	rs1307424292	missense variant	-	NC_000005.10:g.37182786A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1799His	rs1307424292	missense variant	-	NC_000005.10:g.37182786A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1799Cys	rs1427918719	missense variant	-	NC_000005.10:g.37182785T>C	gnomAD
CPLANE1	Q9H799	p.Tyr1799Ter	rs759881074	stop gained	-	NC_000005.10:g.37182784A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1801Thr	rs547946112	missense variant	-	NC_000005.10:g.37182780C>T	gnomAD
CPLANE1	Q9H799	p.Ala1801Glu	rs1375771598	missense variant	-	NC_000005.10:g.37182779G>T	gnomAD
CPLANE1	Q9H799	p.Ala1804Ser	rs181490574	missense variant	-	NC_000005.10:g.37182771C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1804Ter	RCV000778766	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37182764_37182768del	ClinVar
CPLANE1	Q9H799	p.Ile1806Ser	rs907377828	missense variant	-	NC_000005.10:g.37182764A>C	gnomAD
CPLANE1	Q9H799	p.Ile1806Val	rs1472917516	missense variant	-	NC_000005.10:g.37182765T>C	gnomAD
CPLANE1	Q9H799	p.Val1809Leu	rs563861036	missense variant	-	NC_000005.10:g.37181002C>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1812Ser	rs376821475	missense variant	-	NC_000005.10:g.37180993G>T	ESP,TOPMed
CPLANE1	Q9H799	p.Arg1812Leu	rs545562838	missense variant	-	NC_000005.10:g.37180992C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1812His	rs545562838	missense variant	-	NC_000005.10:g.37180992C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg1812Cys	rs376821475	missense variant	-	NC_000005.10:g.37180993G>A	ESP,TOPMed
CPLANE1	Q9H799	p.Asp1813Gly	rs771172998	missense variant	-	NC_000005.10:g.37180989T>C	ExAC
CPLANE1	Q9H799	p.Thr1814Ala	RCV000646710	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37180987T>C	ClinVar
CPLANE1	Q9H799	p.Thr1814Ala	rs760844546	missense variant	-	NC_000005.10:g.37180987T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1815Arg	rs1009339676	missense variant	-	NC_000005.10:g.37180984C>G	TOPMed
CPLANE1	Q9H799	p.Cys1816Tyr	rs138639220	missense variant	-	NC_000005.10:g.37180980C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1817Glu	rs772099372	missense variant	-	NC_000005.10:g.37180978G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1820Ser	rs1381413361	missense variant	-	NC_000005.10:g.37180969G>A	gnomAD
CPLANE1	Q9H799	p.Asn1821Ser	rs748251473	missense variant	-	NC_000005.10:g.37180965T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1822Val	rs1447400188	missense variant	-	NC_000005.10:g.37180963T>C	gnomAD
CPLANE1	Q9H799	p.Arg1824Lys	rs559787397	missense variant	-	NC_000005.10:g.37180956C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1825Asp	rs150153090	missense variant	-	NC_000005.10:g.37180952C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1826Gly	rs1457541096	missense variant	-	NC_000005.10:g.37180951T>C	gnomAD
CPLANE1	Q9H799	p.Lys1827Arg	rs749120835	missense variant	-	NC_000005.10:g.37180947T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1832Cys	rs755908877	missense variant	-	NC_000005.10:g.37180933C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1837Pro	rs1202045583	missense variant	-	NC_000005.10:g.37180918C>G	TOPMed
CPLANE1	Q9H799	p.Thr1838Ala	RCV000145370	missense variant	-	NC_000005.10:g.37180915T>C	ClinVar
CPLANE1	Q9H799	p.Thr1838Ala	RCV000528336	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37180915T>C	ClinVar
CPLANE1	Q9H799	p.Thr1838Ala	rs76245173	missense variant	-	NC_000005.10:g.37180915T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1839Ser	rs888749024	missense variant	-	NC_000005.10:g.37180912G>A	TOPMed
CPLANE1	Q9H799	p.Gly1841Glu	rs1471535536	missense variant	-	NC_000005.10:g.37180905C>T	gnomAD
CPLANE1	Q9H799	p.Glu1844Lys	rs765373927	missense variant	-	NC_000005.10:g.37180897C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1844Asp	rs184096663	missense variant	-	NC_000005.10:g.37180895T>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Arg1845Gly	rs555768951	missense variant	-	NC_000005.10:g.37180894T>C	1000Genomes
CPLANE1	Q9H799	p.Arg1845Ile	rs1247860468	missense variant	-	NC_000005.10:g.37180893C>A	gnomAD
CPLANE1	Q9H799	p.Gly1847Ser	rs1323962263	missense variant	-	NC_000005.10:g.37180888C>T	gnomAD
CPLANE1	Q9H799	p.Ser1851Pro	rs200795256	missense variant	-	NC_000005.10:g.37180876A>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys1852Gly	rs191940879	missense variant	-	NC_000005.10:g.37180873A>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1853Lys	rs766699868	missense variant	-	NC_000005.10:g.37180870G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln1853Ter	rs766699868	stop gained	-	NC_000005.10:g.37180870G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1860Leu	rs368751039	missense variant	-	NC_000005.10:g.37180175G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1860Thr	rs1272777983	missense variant	-	NC_000005.10:g.37180176G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1865His	rs199524299	missense variant	-	NC_000005.10:g.37180161T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn1865His	RCV000386853	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37180161T>G	ClinVar
CPLANE1	Q9H799	p.Asn1865His	RCV000424907	missense variant	-	NC_000005.10:g.37180161T>G	ClinVar
CPLANE1	Q9H799	p.Asp1867Asn	rs1426379215	missense variant	-	NC_000005.10:g.37180155C>T	gnomAD
CPLANE1	Q9H799	p.Asp1867Glu	rs976028353	missense variant	-	NC_000005.10:g.37180153A>T	gnomAD
CPLANE1	Q9H799	p.Asp1867Gly	rs963676463	missense variant	-	NC_000005.10:g.37180154T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1868Thr	rs762090006	missense variant	-	NC_000005.10:g.37180151A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1868Lys	rs762090006	missense variant	-	NC_000005.10:g.37180151A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1868Met	rs774687609	missense variant	-	NC_000005.10:g.37180150T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn1872Ser	rs765842074	missense variant	-	NC_000005.10:g.37180139T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1873Gly	rs763113716	missense variant	-	NC_000005.10:g.37180136T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1874Gly	rs1312543279	missense variant	-	NC_000005.10:g.37180133T>C	gnomAD
CPLANE1	Q9H799	p.Ile1875Val	rs769707371	missense variant	-	NC_000005.10:g.37180131T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1878Ser	rs745671752	missense variant	-	NC_000005.10:g.37180121A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1878Thr	rs745671752	missense variant	-	NC_000005.10:g.37180121A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.His1880Arg	rs776446341	missense variant	-	NC_000005.10:g.37180115T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1880Tyr	rs1014600963	missense variant	-	NC_000005.10:g.37180116G>A	TOPMed
CPLANE1	Q9H799	p.Asn1881Ser	rs770680472	missense variant	-	NC_000005.10:g.37180112T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1882Ser	rs1269176064	missense variant	-	NC_000005.10:g.37180109G>C	TOPMed
CPLANE1	Q9H799	p.Lys1884Thr	rs373865796	missense variant	-	NC_000005.10:g.37180103T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1884Arg	rs373865796	missense variant	-	NC_000005.10:g.37180103T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1884Thr	RCV000419345	missense variant	-	NC_000005.10:g.37180103T>G	ClinVar
CPLANE1	Q9H799	p.Glu1885Ter	rs757968306	stop gained	-	NC_000005.10:g.37180101C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1887Val	rs747586143	missense variant	-	NC_000005.10:g.37180095T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1888Gly	rs780435133	missense variant	-	NC_000005.10:g.37180091T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile1889Thr	rs1245054488	missense variant	-	NC_000005.10:g.37180088A>G	TOPMed
CPLANE1	Q9H799	p.Ile1889Ter	RCV000513749	frameshift	-	NC_000005.10:g.37180086_37180087del	ClinVar
CPLANE1	Q9H799	p.Glu1891Lys	rs750789109	missense variant	-	NC_000005.10:g.37180083C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1891Asp	rs1183585651	missense variant	-	NC_000005.10:g.37180081C>A	gnomAD
CPLANE1	Q9H799	p.Glu1895Gln	rs767967950	missense variant	-	NC_000005.10:g.37180071C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala1898Thr	rs751889936	missense variant	-	NC_000005.10:g.37180062C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1902Lys	rs763129992	missense variant	-	NC_000005.10:g.37180050C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1904Ile	rs752765729	missense variant	-	NC_000005.10:g.37180042C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His1907Asp	rs765117763	missense variant	-	NC_000005.10:g.37180035G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1908Val	rs1314342926	missense variant	-	NC_000005.10:g.37180032T>C	gnomAD
CPLANE1	Q9H799	p.Asp1910Ala	rs759558910	missense variant	-	NC_000005.10:g.37180025T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1911Ter	RCV000599682	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37180021A>C	ClinVar
CPLANE1	Q9H799	p.Tyr1911Ter	rs770770257	stop gained	-	NC_000005.10:g.37180021A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr1911Ser	rs776408370	missense variant	-	NC_000005.10:g.37180022T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1912Lys	rs1450956266	missense variant	-	NC_000005.10:g.37180020C>T	gnomAD
CPLANE1	Q9H799	p.Glu1912Asp	rs536851859	missense variant	-	NC_000005.10:g.37180018T>G	gnomAD
CPLANE1	Q9H799	p.Glu1913Asp	rs1391007663	missense variant	-	NC_000005.10:g.37179442T>G	gnomAD
CPLANE1	Q9H799	p.Ile1915Thr	rs753876890	missense variant	-	NC_000005.10:g.37179437A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Val1919Phe	rs766234915	missense variant	-	NC_000005.10:g.37179426C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1920Glu	rs760471892	missense variant	-	NC_000005.10:g.37179422C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1921Asp	rs1288877583	missense variant	-	NC_000005.10:g.37179419C>T	gnomAD
CPLANE1	Q9H799	p.Phe1922Leu	rs772939079	missense variant	-	NC_000005.10:g.37179415G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1926Gly	rs773856220	missense variant	-	NC_000005.10:g.37179405T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser1926Thr	rs1227202519	missense variant	-	NC_000005.10:g.37179404C>G	gnomAD
CPLANE1	Q9H799	p.Ser1926Arg	rs773856220	missense variant	-	NC_000005.10:g.37179405T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1928Gly	rs190242054	missense variant	-	NC_000005.10:g.37179398G>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ala1928Val	rs190242054	missense variant	-	NC_000005.10:g.37179398G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1929Val	rs1273330212	missense variant	-	NC_000005.10:g.37179396T>C	gnomAD
CPLANE1	Q9H799	p.Met1932Lys	rs1304077388	missense variant	-	NC_000005.10:g.37179386A>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1932Arg	rs1304077388	missense variant	-	NC_000005.10:g.37179386A>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1933Ala	rs1387791746	missense variant	-	NC_000005.10:g.37179384T>C	gnomAD
CPLANE1	Q9H799	p.Gln1937Ter	rs1225604508	stop gained	-	NC_000005.10:g.37179372G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1941Asp	rs1427163113	missense variant	-	NC_000005.10:g.37177698C>A	gnomAD
CPLANE1	Q9H799	p.Glu1945Ter	rs761502897	stop gained	-	NC_000005.10:g.37177688C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln1947Arg	rs774121501	missense variant	-	NC_000005.10:g.37177681T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1951Gly	rs1443849694	missense variant	-	NC_000005.10:g.37177669T>C	gnomAD
CPLANE1	Q9H799	p.Glu1955Gln	rs1042774343	missense variant	-	NC_000005.10:g.37177658C>G	TOPMed
CPLANE1	Q9H799	p.Thr1956Ala	rs373199163	missense variant	-	NC_000005.10:g.37177655T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1956Lys	rs1323231145	missense variant	-	NC_000005.10:g.37177654G>T	gnomAD
CPLANE1	Q9H799	p.Glu1959Gly	rs1230715850	missense variant	-	NC_000005.10:g.37177645T>C	gnomAD
CPLANE1	Q9H799	p.Lys1961Asn	rs370359867	missense variant	-	NC_000005.10:g.37177638T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1962Trp	rs768454790	missense variant	-	NC_000005.10:g.37177636G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1962Leu	rs768454790	missense variant	-	NC_000005.10:g.37177636G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys1966Asn	rs1342538441	missense variant	-	NC_000005.10:g.37177623T>G	gnomAD
CPLANE1	Q9H799	p.Lys1966Glu	rs1472642121	missense variant	-	NC_000005.10:g.37177625T>C	gnomAD
CPLANE1	Q9H799	p.Gly1967Ser	rs538462107	missense variant	-	NC_000005.10:g.37177622C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Gly1967Ala	rs138049045	missense variant	-	NC_000005.10:g.37177621C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly1967Asp	rs138049045	missense variant	-	NC_000005.10:g.37177621C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1968Val	rs756257858	missense variant	-	NC_000005.10:g.37175985T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu1970Lys	rs1391071475	missense variant	-	NC_000005.10:g.37175979C>T	TOPMed
CPLANE1	Q9H799	p.Gly1976Arg	rs745881887	missense variant	-	NC_000005.10:g.37175961C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His1977Gln	rs757095260	missense variant	-	NC_000005.10:g.37175956A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1978Ile	rs751402710	missense variant	-	NC_000005.10:g.37175954G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1978Ala	rs1453413994	missense variant	-	NC_000005.10:g.37175955T>C	gnomAD
CPLANE1	Q9H799	p.Thr1979Ile	rs777476825	missense variant	-	NC_000005.10:g.37175951G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro1980Ser	rs758252905	missense variant	-	NC_000005.10:g.37175949G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro1980Leu	rs752464418	missense variant	-	NC_000005.10:g.37175948G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Met1983Val	rs1268361160	missense variant	-	NC_000005.10:g.37175940T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1983Leu	rs1268361160	missense variant	-	NC_000005.10:g.37175940T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met1983Ile	rs764916230	missense variant	-	NC_000005.10:g.37175938C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1986His	rs753346671	missense variant	-	NC_000005.10:g.37175931C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp1986Gly	rs762263576	missense variant	-	NC_000005.10:g.37175930T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp1986Val	rs762263576	missense variant	-	NC_000005.10:g.37175930T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr1987Arg	rs141126113	missense variant	-	NC_000005.10:g.37175927G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr1987Met	rs141126113	missense variant	-	NC_000005.10:g.37175927G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser1988Asn	rs1185288449	missense variant	-	NC_000005.10:g.37175924C>T	gnomAD
CPLANE1	Q9H799	p.Ser1989Leu	rs775696760	missense variant	-	NC_000005.10:g.37175921G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu1990Lys	rs769946295	missense variant	-	NC_000005.10:g.37175919C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1991Met	rs1198846058	missense variant	-	NC_000005.10:g.37175914A>C	gnomAD
CPLANE1	Q9H799	p.Gln1995His	rs759795293	missense variant	-	NC_000005.10:g.37173941C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile1996Leu	rs1237016436	missense variant	-	NC_000005.10:g.37173940T>G	TOPMed
CPLANE1	Q9H799	p.Ile1996Thr	rs1278588680	missense variant	-	NC_000005.10:g.37173939A>G	TOPMed
CPLANE1	Q9H799	p.Tyr1999Asn	rs747044097	missense variant	-	NC_000005.10:g.37173931A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2003Phe	rs1445358492	missense variant	-	NC_000005.10:g.37173918G>A	TOPMed
CPLANE1	Q9H799	p.Ile2010Met	rs747983398	missense variant	-	NC_000005.10:g.37173896T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2011Leu	rs1175326205	missense variant	-	NC_000005.10:g.37173894G>A	TOPMed
CPLANE1	Q9H799	p.Asn2012Asp	rs984208088	missense variant	-	NC_000005.10:g.37173892T>C	gnomAD
CPLANE1	Q9H799	p.Asn2015Ser	rs545125265	missense variant	-	NC_000005.10:g.37173882T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2019Ter	rs1159990425	stop gained	-	NC_000005.10:g.37173871G>A	gnomAD
CPLANE1	Q9H799	p.Pro2020Gln	rs748954020	missense variant	-	NC_000005.10:g.37173867G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2021Leu	rs928348123	missense variant	-	NC_000005.10:g.37173864G>A	TOPMed
CPLANE1	Q9H799	p.Ala2022Pro	rs779755677	missense variant	-	NC_000005.10:g.37173862C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2023Leu	rs1461613577	missense variant	-	NC_000005.10:g.37173858G>A	gnomAD
CPLANE1	Q9H799	p.Thr2024Ala	rs1242233296	missense variant	-	NC_000005.10:g.37173856T>C	gnomAD
CPLANE1	Q9H799	p.Pro2025Thr	rs1372408283	missense variant	-	NC_000005.10:g.37173853G>T	TOPMed
CPLANE1	Q9H799	p.Gln2029His	rs1237751485	missense variant	-	NC_000005.10:g.37173839C>G	gnomAD
CPLANE1	Q9H799	p.Glu2032Asp	rs764609136	missense variant	-	NC_000005.10:g.37173830T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe2033Cys	RCV000356938	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37173828A>C	ClinVar
CPLANE1	Q9H799	p.Phe2033Cys	RCV000145376	missense variant	-	NC_000005.10:g.37173828A>C	ClinVar
CPLANE1	Q9H799	p.Phe2033Cys	rs10076911	missense variant	-	NC_000005.10:g.37173828A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe2033Cys	RCV000602270	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37173828A>C	ClinVar
CPLANE1	Q9H799	p.Thr2034Ala	rs1228475615	missense variant	-	NC_000005.10:g.37173826T>C	gnomAD
CPLANE1	Q9H799	p.Thr2034Met	rs145854343	missense variant	-	NC_000005.10:g.37173825G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2036His	rs759938964	missense variant	-	NC_000005.10:g.37173818C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2039Val	rs1262787542	missense variant	-	NC_000005.10:g.37173810T>A	TOPMed
CPLANE1	Q9H799	p.Ser2041Leu	rs1348795271	missense variant	-	NC_000005.10:g.37173804G>A	TOPMed
CPLANE1	Q9H799	p.Glu2042Ala	rs766565364	missense variant	-	NC_000005.10:g.37173801T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2042Ala	RCV000302069	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37173801T>G	ClinVar
CPLANE1	Q9H799	p.Ser2043Pro	rs760692002	missense variant	-	NC_000005.10:g.37173799A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2044Ile	rs773299420	missense variant	-	NC_000005.10:g.37173796C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2044Leu	rs773299420	missense variant	-	NC_000005.10:g.37173796C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2049Arg	rs1469841680	missense variant	-	NC_000005.10:g.37173780T>C	TOPMed
CPLANE1	Q9H799	p.Met2052Ile	rs1451062658	missense variant	-	NC_000005.10:g.37173770C>T	gnomAD
CPLANE1	Q9H799	p.Phe2053Tyr	RCV000706312	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37173768A>T	ClinVar
CPLANE1	Q9H799	p.Phe2053Tyr	RCV000417648	missense variant	-	NC_000005.10:g.37173768A>T	ClinVar
CPLANE1	Q9H799	p.Phe2053Tyr	rs189493985	missense variant	-	NC_000005.10:g.37173768A>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2056Ile	rs748142967	missense variant	-	NC_000005.10:g.37173760C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2058Val	RCV000785934	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37170331G>C	ClinVar
CPLANE1	Q9H799	p.Leu2058Val	rs576883816	missense variant	-	NC_000005.10:g.37170331G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2060His	rs779417324	missense variant	-	NC_000005.10:g.37170323C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn2062Lys	rs755471609	missense variant	-	NC_000005.10:g.37170317G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2064Val	rs1227635878	missense variant	-	NC_000005.10:g.37170313T>C	TOPMed
CPLANE1	Q9H799	p.Ser2065Asn	rs754264613	missense variant	-	NC_000005.10:g.37170309C>T	ExAC
CPLANE1	Q9H799	p.Ser2065Arg	rs780513159	missense variant	-	NC_000005.10:g.37170308G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2067Arg	rs756418851	missense variant	-	NC_000005.10:g.37170303A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe2074Leu	rs1249354445	missense variant	-	NC_000005.10:g.37170281A>T	gnomAD
CPLANE1	Q9H799	p.Ala2075Asp	rs1326109813	missense variant	-	NC_000005.10:g.37170279G>T	gnomAD
CPLANE1	Q9H799	p.Ala2075Pro	rs1462976136	missense variant	-	NC_000005.10:g.37170280C>G	TOPMed
CPLANE1	Q9H799	p.Asn2076His	rs767783400	missense variant	-	NC_000005.10:g.37170277T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2076Asp	rs767783400	missense variant	-	NC_000005.10:g.37170277T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2076Thr	rs1182101030	missense variant	-	NC_000005.10:g.37170276T>G	TOPMed
CPLANE1	Q9H799	p.Leu2077Phe	rs762000335	missense variant	-	NC_000005.10:g.37170274G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2081His	rs751645035	missense variant	-	NC_000005.10:g.37170260T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2082His	rs763974450	missense variant	-	NC_000005.10:g.37170257T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2082Arg	rs1224595164	missense variant	-	NC_000005.10:g.37170258T>C	gnomAD
CPLANE1	Q9H799	p.Leu2083Phe	rs1462238477	missense variant	-	NC_000005.10:g.37170256G>A	gnomAD
CPLANE1	Q9H799	p.Leu2083Pro	rs140110975	missense variant	-	NC_000005.10:g.37170255A>G	ESP,ExAC,TOPMed
CPLANE1	Q9H799	p.Ser2087Thr	rs1026851353	missense variant	-	NC_000005.10:g.37170244A>T	TOPMed
CPLANE1	Q9H799	p.Gln2088Leu	rs1444441843	missense variant	-	NC_000005.10:g.37170240T>A	gnomAD
CPLANE1	Q9H799	p.Gln2088His	rs1336621934	missense variant	-	NC_000005.10:g.37170239C>G	gnomAD
CPLANE1	Q9H799	p.Ser2089Cys	rs1328390144	missense variant	-	NC_000005.10:g.37170237G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2090Met	RCV000690354	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37170235C>T	ClinVar
CPLANE1	Q9H799	p.Val2090Gly	rs769691069	missense variant	-	NC_000005.10:g.37170234A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His2091Tyr	rs1337314570	missense variant	-	NC_000005.10:g.37170232G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.His2091Arg	rs759257853	missense variant	-	NC_000005.10:g.37170231T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2092Val	rs915755841	missense variant	-	NC_000005.10:g.37170229A>C	TOPMed
CPLANE1	Q9H799	p.Leu2092Ser	rs558551880	missense variant	-	NC_000005.10:g.37170228A>G	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2092Phe	rs938631341	missense variant	-	NC_000005.10:g.37170227T>A	-
CPLANE1	Q9H799	p.Ser2095Gly	rs1362890612	missense variant	-	NC_000005.10:g.37170220T>C	gnomAD
CPLANE1	Q9H799	p.Gln2096Arg	rs1382440073	missense variant	-	NC_000005.10:g.37170216T>C	TOPMed
CPLANE1	Q9H799	p.Leu2100Gln	rs1226031728	missense variant	-	NC_000005.10:g.37170204A>T	TOPMed
CPLANE1	Q9H799	p.Arg2101Gly	rs201739330	missense variant	-	NC_000005.10:g.37170202T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2101Ile	rs771457677	missense variant	-	NC_000005.10:g.37170201C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2101Lys	rs771457677	missense variant	-	NC_000005.10:g.37170201C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2102Glu	rs1261785453	missense variant	-	NC_000005.10:g.37170198C>T	gnomAD
CPLANE1	Q9H799	p.Cys2103Trp	rs749862200	missense variant	-	NC_000005.10:g.37170194A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2105Gly	rs144243923	missense variant	-	NC_000005.10:g.37170189T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2108Gly	rs750761495	missense variant	-	NC_000005.10:g.37170180T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2108His	rs756508465	missense variant	-	NC_000005.10:g.37170181C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2110Asp	rs139528477	missense variant	-	NC_000005.10:g.37170175T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2110Lys	rs764283549	missense variant	-	NC_000005.10:g.37170173G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2110Asp	RCV000521762	missense variant	-	NC_000005.10:g.37170175T>C	ClinVar
CPLANE1	Q9H799	p.Leu2113Val	rs762929896	missense variant	-	NC_000005.10:g.37170166G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2119Val	rs1400800881	missense variant	-	NC_000005.10:g.37170148T>C	gnomAD
CPLANE1	Q9H799	p.Lys2120Thr	rs150835516	missense variant	-	NC_000005.10:g.37170144T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2120Glu	rs1428034845	missense variant	-	NC_000005.10:g.37170145T>C	TOPMed
CPLANE1	Q9H799	p.Gln2122Glu	rs759347586	missense variant	-	NC_000005.10:g.37170139G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2122Leu	rs776370347	missense variant	-	NC_000005.10:g.37170138T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2122Ter	rs759347586	stop gained	-	NC_000005.10:g.37170139G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2123Pro	rs1358431040	missense variant	-	NC_000005.10:g.37170136A>G	TOPMed
CPLANE1	Q9H799	p.Met2124Val	rs770682379	missense variant	-	NC_000005.10:g.37170133T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2124Ile	rs1476794268	missense variant	-	NC_000005.10:g.37170131C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2125Glu	rs1359391591	missense variant	-	NC_000005.10:g.37170129C>T	TOPMed
CPLANE1	Q9H799	p.Gly2125Arg	rs1241858107	missense variant	-	NC_000005.10:g.37170130C>T	gnomAD
CPLANE1	Q9H799	p.Ala2128Thr	rs772723784	missense variant	-	NC_000005.10:g.37170121C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2130Asp	rs771676867	missense variant	-	NC_000005.10:g.37170113C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2130Ala	rs1203452488	missense variant	-	NC_000005.10:g.37170114T>G	gnomAD
CPLANE1	Q9H799	p.Pro2131Ser	rs1315959240	missense variant	-	NC_000005.10:g.37170112G>A	gnomAD
CPLANE1	Q9H799	p.Pro2131His	rs141413425	missense variant	-	NC_000005.10:g.37170111G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2132Pro	rs148698826	missense variant	-	NC_000005.10:g.37170108C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2132His	rs148698826	missense variant	-	NC_000005.10:g.37170108C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2132Cys	rs578127199	missense variant	-	NC_000005.10:g.37170109G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2132Leu	rs148698826	missense variant	-	NC_000005.10:g.37170108C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2133Thr	rs1218344038	missense variant	-	NC_000005.10:g.37170105T>G	TOPMed
CPLANE1	Q9H799	p.Ser2135Arg	rs781721269	missense variant	-	NC_000005.10:g.37170098G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2136Ter	RCV000024220	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37170098del	ClinVar
CPLANE1	Q9H799	p.Pro2136Ala	rs757674599	missense variant	-	NC_000005.10:g.37170097G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2137Arg	rs958416569	missense variant	-	NC_000005.10:g.37170093T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.His2137Leu	rs958416569	missense variant	-	NC_000005.10:g.37170093T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys2138Tyr	rs1315673648	missense variant	-	NC_000005.10:g.37170090C>T	gnomAD
CPLANE1	Q9H799	p.His2139Arg	rs1017787313	missense variant	-	NC_000005.10:g.37170087T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.His2139Leu	rs1017787313	missense variant	-	NC_000005.10:g.37170087T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2141Glu	rs747294401	missense variant	-	NC_000005.10:g.37170081C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2141Arg	rs1365847311	missense variant	-	NC_000005.10:g.37170082C>G	gnomAD
CPLANE1	Q9H799	p.Thr2142Ser	rs1424438060	missense variant	-	NC_000005.10:g.37170079T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2142Ser	rs1383700248	missense variant	-	NC_000005.10:g.37170078G>C	gnomAD
CPLANE1	Q9H799	p.Ile2143Val	rs6884652	missense variant	-	NC_000005.10:g.37170076T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2143Val	RCV000145377	missense variant	-	NC_000005.10:g.37170076T>C	ClinVar
CPLANE1	Q9H799	p.Ile2143Val	RCV000528573	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37170076T>C	ClinVar
CPLANE1	Q9H799	p.Gly2146Ser	rs758516262	missense variant	-	NC_000005.10:g.37170067C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2146Arg	rs758516262	missense variant	-	NC_000005.10:g.37170067C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn2148Ser	rs150999024	missense variant	-	NC_000005.10:g.37170060T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2148Ser	RCV000360437	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37170060T>C	ClinVar
CPLANE1	Q9H799	p.Ser2149Asn	rs765250980	missense variant	-	NC_000005.10:g.37170057C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2150Ser	rs754947937	missense variant	-	NC_000005.10:g.37170055T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2152Lys	rs186460995	missense variant	-	NC_000005.10:g.37170047G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2154Arg	rs1418732084	missense variant	-	NC_000005.10:g.37170042T>C	TOPMed
CPLANE1	Q9H799	p.Gln2154Ter	rs1221947399	stop gained	-	NC_000005.10:g.37170043G>A	gnomAD
CPLANE1	Q9H799	p.Asn2155His	rs189240573	missense variant	-	NC_000005.10:g.37169561T>G	1000Genomes
CPLANE1	Q9H799	p.Val2156Ile	rs750138893	missense variant	-	NC_000005.10:g.37169558C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2157Ala	rs1375125673	missense variant	-	NC_000005.10:g.37169555G>C	gnomAD
CPLANE1	Q9H799	p.His2158Arg	rs555821656	missense variant	-	NC_000005.10:g.37169551T>C	gnomAD
CPLANE1	Q9H799	p.Ser2160Asn	rs761416940	missense variant	-	NC_000005.10:g.37169545C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2161Val	rs751206376	missense variant	-	NC_000005.10:g.37169543T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2162Ala	rs1175850198	missense variant	-	NC_000005.10:g.37169540G>C	gnomAD
CPLANE1	Q9H799	p.Leu2163Phe	rs763759036	missense variant	-	NC_000005.10:g.37169535T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2163Phe	rs763759036	missense variant	-	NC_000005.10:g.37169535T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys2164Ter	rs1177944761	stop gained	-	NC_000005.10:g.37169532A>T	gnomAD
CPLANE1	Q9H799	p.Gly2168Asp	rs762551958	missense variant	-	NC_000005.10:g.37169521C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2169Arg	rs1285169763	missense variant	-	NC_000005.10:g.37169518T>C	TOPMed
CPLANE1	Q9H799	p.Pro2170Ser	rs1201263396	missense variant	-	NC_000005.10:g.37169516G>A	gnomAD
CPLANE1	Q9H799	p.Arg2171Gln	RCV000513844	missense variant	-	NC_000005.10:g.37169512C>T	ClinVar
CPLANE1	Q9H799	p.Arg2171Gln	rs377742483	missense variant	-	NC_000005.10:g.37169512C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2171Trp	rs371324866	missense variant	-	NC_000005.10:g.37169513G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2172Arg	rs773486378	missense variant	-	NC_000005.10:g.37169509T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2176Val	rs1370715094	missense variant	-	NC_000005.10:g.37169498T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2176Phe	rs1370715094	missense variant	-	NC_000005.10:g.37169498T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2178Leu	rs1284859177	missense variant	-	NC_000005.10:g.37169491G>A	TOPMed
CPLANE1	Q9H799	p.Ser2179Cys	rs1454889932	missense variant	-	NC_000005.10:g.37169488G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2179Phe	rs1454889932	missense variant	-	NC_000005.10:g.37169488G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2180Glu	rs138088605	missense variant	-	NC_000005.10:g.37169486G>C	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2182Phe	rs1346970955	missense variant	-	NC_000005.10:g.37169478T>G	gnomAD
CPLANE1	Q9H799	p.Pro2183Gln	rs768725970	missense variant	-	NC_000005.10:g.37169476G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2184Phe	rs778922159	missense variant	-	NC_000005.10:g.37169473G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2185Ala	rs1378676464	missense variant	-	NC_000005.10:g.37169471T>C	gnomAD
CPLANE1	Q9H799	p.Ser2186Leu	rs779991759	missense variant	-	NC_000005.10:g.37169467G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr2188Cys	rs540226094	missense variant	-	NC_000005.10:g.37169461T>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr2188Ser	rs540226094	missense variant	-	NC_000005.10:g.37169461T>G	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2189Thr	rs750344707	missense variant	-	NC_000005.10:g.37169459G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2189Leu	rs780898967	missense variant	-	NC_000005.10:g.37169458G>A	ExAC
CPLANE1	Q9H799	p.Pro2191Leu	rs757065976	missense variant	-	NC_000005.10:g.37169452G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2192Ser	rs771245317	missense variant	-	NC_000005.10:g.37169450C>A	gnomAD
CPLANE1	Q9H799	p.Asn2194Ser	rs1260872066	missense variant	-	NC_000005.10:g.37169443T>C	gnomAD
CPLANE1	Q9H799	p.Thr2195Ala	rs374876051	missense variant	-	NC_000005.10:g.37169441T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2195Ala	RCV000497814	missense variant	-	NC_000005.10:g.37169441T>C	ClinVar
CPLANE1	Q9H799	p.His2196Gln	rs1314812309	missense variant	-	NC_000005.10:g.37169436G>C	gnomAD
CPLANE1	Q9H799	p.Tyr2198Asp	rs1448749542	missense variant	-	NC_000005.10:g.37169432A>C	gnomAD
CPLANE1	Q9H799	p.Leu2199Phe	rs572837877	missense variant	-	NC_000005.10:g.37169429G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2199Pro	rs1383914163	missense variant	-	NC_000005.10:g.37169428A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2200Phe	rs762568486	missense variant	-	NC_000005.10:g.37169424C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2201Tyr	rs554608351	missense variant	-	NC_000005.10:g.37169422G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2202Pro	rs764806035	missense variant	-	NC_000005.10:g.37169420T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2202Ala	rs764806035	missense variant	-	NC_000005.10:g.37169420T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2203Ala	rs773750881	missense variant	-	NC_000005.10:g.37169417G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2203Thr	rs773750881	missense variant	-	NC_000005.10:g.37169417G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2204Phe	rs542481988	missense variant	-	NC_000005.10:g.37169413G>A	1000Genomes,TOPMed
CPLANE1	Q9H799	p.Val2206Phe	rs944168145	missense variant	-	NC_000005.10:g.37169408C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2209Gly	rs1384307303	missense variant	-	NC_000005.10:g.37169398G>C	gnomAD
CPLANE1	Q9H799	p.Ala2209Thr	rs762170195	missense variant	-	NC_000005.10:g.37169399C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2211Thr	rs1359733506	missense variant	-	NC_000005.10:g.37169392C>G	TOPMed
CPLANE1	Q9H799	p.Ile2213Thr	rs575049365	missense variant	-	NC_000005.10:g.37169386A>G	1000Genomes,gnomAD
CPLANE1	Q9H799	p.Ile2213Asn	rs575049365	missense variant	-	NC_000005.10:g.37169386A>T	1000Genomes,gnomAD
CPLANE1	Q9H799	p.His2215Arg	rs556705113	missense variant	-	NC_000005.10:g.37169380T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2216Gly	rs749403465	missense variant	-	NC_000005.10:g.37169377G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2218Pro	rs1355023938	missense variant	-	NC_000005.10:g.37169372T>G	TOPMed
CPLANE1	Q9H799	p.Phe2219Cys	rs780148979	missense variant	-	NC_000005.10:g.37169368A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2220Asn	rs769896553	missense variant	-	NC_000005.10:g.37169365C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2222Val	rs1222685350	missense variant	-	NC_000005.10:g.37169359C>A	gnomAD
CPLANE1	Q9H799	p.Asp2223Gly	rs538086941	missense variant	-	NC_000005.10:g.37169356T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2223Val	rs538086941	missense variant	-	NC_000005.10:g.37169356T>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2223His	rs1196955944	missense variant	-	NC_000005.10:g.37169357C>G	TOPMed
CPLANE1	Q9H799	p.Gly2224Asp	rs781188484	missense variant	-	NC_000005.10:g.37169353C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2226Leu	rs757011163	missense variant	-	NC_000005.10:g.37169347G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2229Arg	rs1235149447	missense variant	-	NC_000005.10:g.37169338T>C	gnomAD
CPLANE1	Q9H799	p.Ser2232Cys	rs751344423	missense variant	-	NC_000005.10:g.37169329G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2232Phe	rs751344423	missense variant	-	NC_000005.10:g.37169329G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2234Ter	rs1381740657	stop gained	-	NC_000005.10:g.37169324G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2234Ter	RCV000778765	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37169324G>A	ClinVar
CPLANE1	Q9H799	p.Phe2236Leu	rs777592572	missense variant	-	NC_000005.10:g.37169316G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2237Lys	rs1305188152	missense variant	-	NC_000005.10:g.37169315G>T	gnomAD
CPLANE1	Q9H799	p.Pro2238Leu	rs1162872564	missense variant	-	NC_000005.10:g.37169311G>A	TOPMed
CPLANE1	Q9H799	p.Leu2239Arg	rs1405851308	missense variant	-	NC_000005.10:g.37169308A>C	gnomAD
CPLANE1	Q9H799	p.Leu2239Phe	rs1462556319	missense variant	-	NC_000005.10:g.37169309G>A	TOPMed
CPLANE1	Q9H799	p.Phe2240Val	rs1168462007	missense variant	-	NC_000005.10:g.37169306A>C	TOPMed
CPLANE1	Q9H799	p.His2242Leu	rs764708269	missense variant	-	NC_000005.10:g.37169299T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2242Arg	rs764708269	missense variant	-	NC_000005.10:g.37169299T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2242Asn	rs752372376	missense variant	-	NC_000005.10:g.37169300G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2243Lys	rs1169587356	missense variant	-	NC_000005.10:g.37169296G>T	gnomAD
CPLANE1	Q9H799	p.Gly2244Glu	rs370156540	missense variant	-	NC_000005.10:g.37169293C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2245Asn	rs750897841	missense variant	-	NC_000005.10:g.37169290C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2245Ile	rs750897841	missense variant	-	NC_000005.10:g.37169290C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2246Val	rs768009044	missense variant	-	NC_000005.10:g.37169288T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2248His	rs142772503	missense variant	-	NC_000005.10:g.37169280T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2255Arg	rs764413026	missense variant	-	NC_000005.10:g.37169260G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp2261Leu	rs775676138	missense variant	-	NC_000005.10:g.37169242C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2262Arg	rs769835888	missense variant	-	NC_000005.10:g.37169240C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2266Phe	rs776449281	missense variant	-	NC_000005.10:g.37169227G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2269Ser	rs1252505731	missense variant	-	NC_000005.10:g.37169219G>A	TOPMed
CPLANE1	Q9H799	p.Ala2270Val	rs1224174978	missense variant	-	NC_000005.10:g.37169215G>A	gnomAD
CPLANE1	Q9H799	p.Leu2271Val	rs746910113	missense variant	-	NC_000005.10:g.37169213G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2272Leu	rs777757781	missense variant	-	NC_000005.10:g.37169209G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2276Pro	rs1297390337	missense variant	-	NC_000005.10:g.37169198C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2276Val	rs1264157136	missense variant	-	NC_000005.10:g.37169197G>A	TOPMed
CPLANE1	Q9H799	p.Pro2280Leu	rs1431327344	missense variant	-	NC_000005.10:g.37169185G>A	gnomAD
CPLANE1	Q9H799	p.Ala2281Thr	rs1462923915	missense variant	-	NC_000005.10:g.37169183C>T	TOPMed
CPLANE1	Q9H799	p.Ser2282Phe	rs778561588	missense variant	-	NC_000005.10:g.37169179G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2287Asn	rs147451628	missense variant	-	NC_000005.10:g.37169164C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr2289Cys	rs1301874838	missense variant	-	NC_000005.10:g.37169158T>C	gnomAD
CPLANE1	Q9H799	p.Asn2290Ser	rs767939817	missense variant	-	NC_000005.10:g.37169155T>C	ExAC,TOPMed
CPLANE1	Q9H799	p.Ala2293Val	rs757803020	missense variant	-	NC_000005.10:g.37169146G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2297Ter	rs752040838	stop gained	-	NC_000005.10:g.37169135C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2298Ile	rs764501132	missense variant	-	NC_000005.10:g.37169132C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2299Lys	rs1195442022	missense variant	-	NC_000005.10:g.37169129C>T	TOPMed
CPLANE1	Q9H799	p.Lys2301Asn	rs765445066	missense variant	-	NC_000005.10:g.37169121C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2301Met	rs775583275	missense variant	-	NC_000005.10:g.37169122T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2302Met	RCV000254124	missense variant	-	NC_000005.10:g.37169119G>A	ClinVar
CPLANE1	Q9H799	p.Thr2302Met	rs34737149	missense variant	-	NC_000005.10:g.37169119G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2304Pro	rs377342410	missense variant	-	NC_000005.10:g.37169114C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2304Thr	rs377342410	missense variant	-	NC_000005.10:g.37169114C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2306Ser	rs1308328787	missense variant	-	NC_000005.10:g.37169108T>A	gnomAD
CPLANE1	Q9H799	p.Val2307Ile	rs1467364085	missense variant	-	NC_000005.10:g.37169105C>T	TOPMed
CPLANE1	Q9H799	p.Asn2313Asp	rs150094586	missense variant	-	NC_000005.10:g.37169087T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2318Gly	rs991996322	missense variant	-	NC_000005.10:g.37169071T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2319His	rs143147192	missense variant	-	NC_000005.10:g.37169067T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2319Leu	rs773273441	missense variant	-	NC_000005.10:g.37169068T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2321Ile	rs1337691600	missense variant	-	NC_000005.10:g.37169063C>T	TOPMed
CPLANE1	Q9H799	p.Gly2322Arg	rs1218624700	missense variant	-	NC_000005.10:g.37169060C>T	TOPMed
CPLANE1	Q9H799	p.Gln2323Arg	rs369786012	missense variant	-	NC_000005.10:g.37169056T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2323Pro	rs369786012	missense variant	-	NC_000005.10:g.37169056T>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2323Ter	rs747892965	stop gained	-	NC_000005.10:g.37169057G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2325Ser	rs1178453531	missense variant	-	NC_000005.10:g.37169050T>C	gnomAD
CPLANE1	Q9H799	p.Leu2326Val	rs369870543	missense variant	-	NC_000005.10:g.37169048A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2328Ala	rs755609467	missense variant	-	NC_000005.10:g.37169042G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2328Ser	rs755609467	missense variant	-	NC_000005.10:g.37169042G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2329Ter	rs1207045681	stop gained	-	NC_000005.10:g.37169039G>A	TOPMed
CPLANE1	Q9H799	p.Gln2330Arg	RCV000350878	missense variant	-	NC_000005.10:g.37169035T>C	ClinVar
CPLANE1	Q9H799	p.Gln2330Arg	rs886041152	missense variant	-	NC_000005.10:g.37169035T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2331Tyr	rs778190592	missense variant	-	NC_000005.10:g.37169033C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2332Cys	rs1206955333	missense variant	-	NC_000005.10:g.37169029G>C	gnomAD
CPLANE1	Q9H799	p.Ser2332Pro	rs1276661353	missense variant	-	NC_000005.10:g.37169030A>G	gnomAD
CPLANE1	Q9H799	p.Ile2336Met	rs1384646636	missense variant	-	NC_000005.10:g.37169016T>C	gnomAD
CPLANE1	Q9H799	p.Pro2338Ala	rs548311210	missense variant	-	NC_000005.10:g.37169012G>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2340Asn	rs565835408	missense variant	-	NC_000005.10:g.37169004T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2341Pro	rs1400751781	missense variant	-	NC_000005.10:g.37169002A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2343Glu	rs972193512	missense variant	-	NC_000005.10:g.37168995A>C	TOPMed
CPLANE1	Q9H799	p.Pro2346Ser	rs900094866	missense variant	-	NC_000005.10:g.37168988G>A	TOPMed
CPLANE1	Q9H799	p.Ile2351Met	rs761730351	missense variant	-	NC_000005.10:g.37168971T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2352Pro	RCV000522594	missense variant	-	NC_000005.10:g.37168970A>G	ClinVar
CPLANE1	Q9H799	p.Ser2352Pro	rs774239772	missense variant	-	NC_000005.10:g.37168970A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2352Ala	rs774239772	missense variant	-	NC_000005.10:g.37168970A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2353Leu	rs1259893340	missense variant	-	NC_000005.10:g.37168966G>A	gnomAD
CPLANE1	Q9H799	p.Pro2353Ser	rs1317886001	missense variant	-	NC_000005.10:g.37168967G>A	TOPMed
CPLANE1	Q9H799	p.His2354Gln	rs768316097	missense variant	-	NC_000005.10:g.37168962G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His2355Asn	rs1236201954	missense variant	-	NC_000005.10:g.37168961G>T	gnomAD
CPLANE1	Q9H799	p.Leu2359Arg	rs529965774	missense variant	-	NC_000005.10:g.37168948A>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2359Ile	rs1211605950	missense variant	-	NC_000005.10:g.37168949G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2360Arg	rs779569678	missense variant	-	NC_000005.10:g.37168945G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2360Leu	rs779569678	missense variant	-	NC_000005.10:g.37168945G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2360Ter	RCV000489735	frameshift	-	NC_000005.10:g.37168946del	ClinVar
CPLANE1	Q9H799	p.Tyr2363Ser	rs745328102	missense variant	-	NC_000005.10:g.37168936T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2366Phe	rs1227508016	missense variant	-	NC_000005.10:g.37168928G>A	gnomAD
CPLANE1	Q9H799	p.Lys2367Glu	RCV000404414	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37168925T>C	ClinVar
CPLANE1	Q9H799	p.Lys2367Glu	rs778278672	missense variant	-	NC_000005.10:g.37168925T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2368Leu	rs1189341048	missense variant	-	NC_000005.10:g.37168921G>A	TOPMed
CPLANE1	Q9H799	p.Pro2369Arg	rs375221056	missense variant	-	NC_000005.10:g.37168918G>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2371Thr	rs569091312	missense variant	-	NC_000005.10:g.37168912A>G	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2375Ala	rs779388665	missense variant	-	NC_000005.10:g.37168901T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2375Ser	rs779388665	missense variant	-	NC_000005.10:g.37168901T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2378Thr	rs755291552	missense variant	-	NC_000005.10:g.37168892C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2381Arg	rs766649891	missense variant	-	NC_000005.10:g.37168882G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2382Phe	rs958703830	missense variant	-	NC_000005.10:g.37168880C>A	gnomAD
CPLANE1	Q9H799	p.Pro2383Leu	rs760859342	missense variant	-	NC_000005.10:g.37168876G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2385Ile	rs369361493	missense variant	-	NC_000005.10:g.37168870G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2385Ala	rs750489289	missense variant	-	NC_000005.10:g.37168871T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2387Val	rs1351045535	missense variant	-	NC_000005.10:g.37168865T>C	TOPMed
CPLANE1	Q9H799	p.Ile2387Met	rs777957964	missense variant	-	NC_000005.10:g.37168863G>C	gnomAD
CPLANE1	Q9H799	p.Ile2387Val	RCV000658254	missense variant	-	NC_000005.10:g.37168865T>C	ClinVar
CPLANE1	Q9H799	p.Glu2393Asp	rs1269829940	missense variant	-	NC_000005.10:g.37168845T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2393Val	rs1490915047	missense variant	-	NC_000005.10:g.37168846T>A	gnomAD
CPLANE1	Q9H799	p.Lys2395Arg	rs761860332	missense variant	-	NC_000005.10:g.37168840T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2397Ter	RCV000201582	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37168836del	ClinVar
CPLANE1	Q9H799	p.Leu2402Ile	rs1374565310	missense variant	-	NC_000005.10:g.37168820G>T	TOPMed
CPLANE1	Q9H799	p.Ser2404Leu	rs768563059	missense variant	-	NC_000005.10:g.37168813G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2405Arg	rs762589757	missense variant	-	NC_000005.10:g.37168810T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2407Tyr	rs775140213	missense variant	-	NC_000005.10:g.37168804G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2408Ala	rs769392264	missense variant	-	NC_000005.10:g.37168802G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2411Lys	rs1020416264	missense variant	-	NC_000005.10:g.37168792C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys2412Arg	rs1471004012	missense variant	-	NC_000005.10:g.37167213A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2413Arg	rs1367844401	missense variant	-	NC_000005.10:g.37167209T>C	gnomAD
CPLANE1	Q9H799	p.Lys2413Gln	rs767764800	missense variant	-	NC_000005.10:g.37167210T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2415Ala	rs1413031662	missense variant	-	NC_000005.10:g.37167204T>C	gnomAD
CPLANE1	Q9H799	p.Gln2416Glu	rs763880761	missense variant	-	NC_000005.10:g.37167201G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2416Lys	rs763880761	missense variant	-	NC_000005.10:g.37167201G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2417Phe	rs1236306561	missense variant	-	NC_000005.10:g.37167198G>A	gnomAD
CPLANE1	Q9H799	p.Ile2418Thr	rs775229916	missense variant	-	NC_000005.10:g.37167194A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2419Leu	rs1425342011	missense variant	-	NC_000005.10:g.37167191G>A	gnomAD
CPLANE1	Q9H799	p.Leu2423Phe	rs557347733	missense variant	-	NC_000005.10:g.37167180G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2424Thr	rs374629869	missense variant	-	NC_000005.10:g.37167176A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2425Val	rs371361208	missense variant	-	NC_000005.10:g.37167173G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2428Glu	rs1378532026	missense variant	-	NC_000005.10:g.37167165G>C	TOPMed
CPLANE1	Q9H799	p.Gln2430Arg	rs368636136	missense variant	-	NC_000005.10:g.37167158T>C	ESP
CPLANE1	Q9H799	p.Gln2431Arg	rs769003125	missense variant	-	NC_000005.10:g.37167155T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2433Pro	RCV000425279	missense variant	-	NC_000005.10:g.37167149A>G	ClinVar
CPLANE1	Q9H799	p.Leu2433Pro	rs372655878	missense variant	-	NC_000005.10:g.37167149A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2433Pro	RCV000280605	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37167149A>G	ClinVar
CPLANE1	Q9H799	p.His2435Arg	rs746161713	missense variant	-	NC_000005.10:g.37167143T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2441Asp	rs757372574	missense variant	-	NC_000005.10:g.37167125C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2442Val	rs1271726278	missense variant	-	NC_000005.10:g.37167122T>A	TOPMed
CPLANE1	Q9H799	p.Asp2442Asn	rs1378331431	missense variant	-	NC_000005.10:g.37167123C>T	gnomAD
CPLANE1	Q9H799	p.Gly2444Glu	rs751548147	missense variant	-	NC_000005.10:g.37167116C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2444Glu	RCV000372715	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37167116C>T	ClinVar
CPLANE1	Q9H799	p.Gln2447His	rs1424374141	missense variant	-	NC_000005.10:g.37167106T>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2451Ile	rs764127814	missense variant	-	NC_000005.10:g.37167096C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2452Thr	rs758310612	missense variant	-	NC_000005.10:g.37167092T>G	ExAC
CPLANE1	Q9H799	p.Glu2454Lys	RCV000334532	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37167087C>T	ClinVar
CPLANE1	Q9H799	p.Glu2454Lys	rs867750018	missense variant	-	NC_000005.10:g.37167087C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2454Asp	rs1473120597	missense variant	-	NC_000005.10:g.37167085T>G	TOPMed
CPLANE1	Q9H799	p.Pro2456Leu	rs146595129	missense variant	-	NC_000005.10:g.37167080G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2456Thr	rs370647204	missense variant	-	NC_000005.10:g.37167081G>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2456Arg	rs146595129	missense variant	-	NC_000005.10:g.37167080G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2456Ser	rs370647204	missense variant	-	NC_000005.10:g.37167081G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2459Lys	rs760263591	missense variant	-	NC_000005.10:g.37167071C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2462Arg	rs771587067	missense variant	-	NC_000005.10:g.37167062T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2462Glu	rs772638108	missense variant	-	NC_000005.10:g.37167063T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2465Glu	rs1312574220	missense variant	-	NC_000005.10:g.37167054T>C	gnomAD
CPLANE1	Q9H799	p.Lys2465Asn	rs776137645	missense variant	-	NC_000005.10:g.37167052T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2470Gly	rs144391535	missense variant	-	NC_000005.10:g.37165664T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2472Thr	rs866330679	missense variant	-	NC_000005.10:g.37165658C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2473Gly	rs1253323704	missense variant	-	NC_000005.10:g.37165654T>C	TOPMed
CPLANE1	Q9H799	p.Glu2473Lys	rs886060576	missense variant	-	NC_000005.10:g.37165655C>T	-
CPLANE1	Q9H799	p.Glu2473Lys	RCV000295865	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37165655C>T	ClinVar
CPLANE1	Q9H799	p.Lys2474Glu	rs776153982	missense variant	-	NC_000005.10:g.37165652T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2480Ter	RCV000387628	frameshift	Joubert syndrome (JBTS)	NC_000005.10:g.37165639dup	ClinVar
CPLANE1	Q9H799	p.Glu2482Lys	rs563822555	missense variant	-	NC_000005.10:g.37165628C>T	1000Genomes,gnomAD
CPLANE1	Q9H799	p.Glu2482Asp	rs760013081	missense variant	-	NC_000005.10:g.37165626C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2486Lys	rs1199052348	missense variant	-	NC_000005.10:g.37165615C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2487Arg	rs1189972276	missense variant	-	NC_000005.10:g.37165612T>C	TOPMed
CPLANE1	Q9H799	p.Asn2489Lys	rs149781800	missense variant	-	NC_000005.10:g.37165605A>C	ESP
CPLANE1	Q9H799	p.Arg2493Ter	RCV000763544	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37165595G>A	ClinVar
CPLANE1	Q9H799	p.Arg2493Leu	RCV000330806	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37165594C>A	ClinVar
CPLANE1	Q9H799	p.Arg2493Gln	rs183942272	missense variant	-	NC_000005.10:g.37165594C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2493Ter	rs139675596	stop gained	Joubert syndrome 17 (jbts17)	NC_000005.10:g.37165595G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2493Leu	rs183942272	missense variant	-	NC_000005.10:g.37165594C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2493Ter	RCV000024222	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37165595G>A	ClinVar
CPLANE1	Q9H799	p.Pro2494Gln	rs1259217386	missense variant	-	NC_000005.10:g.37165591G>T	gnomAD
CPLANE1	Q9H799	p.Asn2496Asp	rs772150231	missense variant	-	NC_000005.10:g.37165586T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2498Val	rs940680431	missense variant	-	NC_000005.10:g.37165580T>C	TOPMed
CPLANE1	Q9H799	p.Asn2501Ser	rs909137914	missense variant	-	NC_000005.10:g.37165570T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2502Glu	rs1267264302	missense variant	-	NC_000005.10:g.37165566A>C	gnomAD
CPLANE1	Q9H799	p.Asp2503Tyr	rs377710348	missense variant	-	NC_000005.10:g.37165565C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2503Asn	rs377710348	missense variant	-	NC_000005.10:g.37165565C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2504Leu	rs1208635414	missense variant	-	NC_000005.10:g.37165561G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2507Thr	rs937224174	missense variant	-	NC_000005.10:g.37165552A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2514Arg	rs1208524492	missense variant	-	NC_000005.10:g.37164320T>C	gnomAD
CPLANE1	Q9H799	p.Gln2514Glu	rs768709495	missense variant	-	NC_000005.10:g.37164321G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2515Gln	rs779976528	missense variant	-	NC_000005.10:g.37164318C>G	ExAC,TOPMed
CPLANE1	Q9H799	p.His2516Arg	rs755876129	missense variant	-	NC_000005.10:g.37164314T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys2517Arg	rs745629319	missense variant	-	NC_000005.10:g.37164312A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2518Val	rs781025101	missense variant	-	NC_000005.10:g.37164308C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2519Cys	rs1219156672	missense variant	-	NC_000005.10:g.37164305G>C	gnomAD
CPLANE1	Q9H799	p.His2520Tyr	rs757013066	missense variant	-	NC_000005.10:g.37164303G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His2520Arg	rs369951498	missense variant	-	NC_000005.10:g.37164302T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2521Arg	rs922260468	missense variant	-	NC_000005.10:g.37164299G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2523Asn	rs1358414759	missense variant	-	NC_000005.10:g.37164294C>T	gnomAD
CPLANE1	Q9H799	p.Asp2524Glu	rs1284656558	missense variant	-	NC_000005.10:g.37164289G>T	gnomAD
CPLANE1	Q9H799	p.Asp2526Asn	rs535480596	missense variant	-	NC_000005.10:g.37164285C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2527Ile	rs749261159	missense variant	-	NC_000005.10:g.37164282C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2528Leu	rs760976416	missense variant	-	NC_000005.10:g.37164278G>A	ExAC
CPLANE1	Q9H799	p.Pro2528Thr	rs1359475338	missense variant	-	NC_000005.10:g.37164279G>T	gnomAD
CPLANE1	Q9H799	p.Glu2530Ter	rs1298014994	stop gained	-	NC_000005.10:g.37164273C>A	gnomAD
CPLANE1	Q9H799	p.Met2531Thr	rs904884378	missense variant	-	NC_000005.10:g.37162563A>G	TOPMed
CPLANE1	Q9H799	p.Met2531Ile	rs764251745	missense variant	-	NC_000005.10:g.37162562C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2533Pro	rs1013620636	missense variant	-	NC_000005.10:g.37162557T>G	TOPMed
CPLANE1	Q9H799	p.Gln2533Glu	rs1170297392	missense variant	-	NC_000005.10:g.37162558G>C	TOPMed
CPLANE1	Q9H799	p.Asn2536Ser	rs1479125312	missense variant	-	NC_000005.10:g.37162548T>C	gnomAD
CPLANE1	Q9H799	p.Ser2538Ala	rs769743728	missense variant	-	NC_000005.10:g.37162543A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2539Pro	rs759577755	missense variant	-	NC_000005.10:g.37162540C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2539Val	rs150595284	missense variant	-	NC_000005.10:g.37162539G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2539Val	RCV000426152	missense variant	-	NC_000005.10:g.37162539G>A	ClinVar
CPLANE1	Q9H799	p.Met2544Val	rs746748652	missense variant	-	NC_000005.10:g.37162525T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2544Ile	rs1255603795	missense variant	-	NC_000005.10:g.37162523C>A	gnomAD
CPLANE1	Q9H799	p.Ser2546Phe	rs1367845087	missense variant	-	NC_000005.10:g.37162518G>A	gnomAD
CPLANE1	Q9H799	p.Ser2546Pro	rs777596158	missense variant	-	NC_000005.10:g.37162519A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2552Val	rs1333881954	missense variant	-	NC_000005.10:g.37162501T>C	gnomAD
CPLANE1	Q9H799	p.Gln2555Ter	rs1399729257	stop gained	-	NC_000005.10:g.37162492G>A	gnomAD
CPLANE1	Q9H799	p.Asp2556Asn	rs1254195539	missense variant	-	NC_000005.10:g.37162489C>T	gnomAD
CPLANE1	Q9H799	p.Ala2557Thr	rs754440323	missense variant	-	NC_000005.10:g.37162486C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2558Arg	rs1426095975	missense variant	-	NC_000005.10:g.37162483T>G	gnomAD
CPLANE1	Q9H799	p.Asn2560Asp	rs1271387050	missense variant	-	NC_000005.10:g.37162477T>C	TOPMed
CPLANE1	Q9H799	p.Thr2561Ile	rs750933570	missense variant	-	NC_000005.10:g.37162473G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2568Phe	rs748748730	missense variant	-	NC_000005.10:g.37158332C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2569Ala	rs781687730	missense variant	-	NC_000005.10:g.37158331T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2570Ser	rs757802926	missense variant	-	NC_000005.10:g.37158328C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2571Ser	rs1413219707	missense variant	-	NC_000005.10:g.37158325G>A	gnomAD
CPLANE1	Q9H799	p.Leu2574Met	rs1298611902	missense variant	-	NC_000005.10:g.37158316A>T	gnomAD
CPLANE1	Q9H799	p.Asp2577Val	rs778261277	missense variant	-	NC_000005.10:g.37158306T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr2579Cys	rs771614298	missense variant	-	NC_000005.10:g.37158300T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Lys2583Met	rs1412521587	missense variant	-	NC_000005.10:g.37158288T>A	gnomAD
CPLANE1	Q9H799	p.Ser2585Cys	rs1217838562	missense variant	-	NC_000005.10:g.37158282G>C	gnomAD
CPLANE1	Q9H799	p.Ser2585Ala	rs376307103	missense variant	-	NC_000005.10:g.37158283A>C	ESP,gnomAD
CPLANE1	Q9H799	p.Ser2586Gly	rs759716117	missense variant	-	NC_000005.10:g.37158280T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2587Gln	rs754007510	missense variant	-	NC_000005.10:g.37158277C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2587Asp	rs1322825265	missense variant	-	NC_000005.10:g.37158275T>G	gnomAD
CPLANE1	Q9H799	p.Glu2587Gly	rs766541647	missense variant	-	NC_000005.10:g.37158276T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2588Ile	rs760750533	missense variant	-	NC_000005.10:g.37158272C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2588Thr	rs1391160336	missense variant	-	NC_000005.10:g.37158273A>G	TOPMed
CPLANE1	Q9H799	p.Ser2589Pro	rs773017769	missense variant	-	NC_000005.10:g.37158271A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2590Asp	rs1231593037	missense variant	-	NC_000005.10:g.37158266C>A	TOPMed
CPLANE1	Q9H799	p.Pro2592Leu	rs16903518	missense variant	-	NC_000005.10:g.37158261G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2592Leu	RCV000327038	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37158261G>A	ClinVar
CPLANE1	Q9H799	p.Pro2592Ser	rs1382954500	missense variant	-	NC_000005.10:g.37158262G>A	gnomAD
CPLANE1	Q9H799	p.Trp2593Ter	rs863225159	stop gained	-	NC_000005.10:g.37158258C>T	TOPMed
CPLANE1	Q9H799	p.Trp2593Ser	rs863225159	missense variant	-	NC_000005.10:g.37158258C>G	TOPMed
CPLANE1	Q9H799	p.Trp2593Ter	RCV000201681	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37158258C>T	ClinVar
CPLANE1	Q9H799	p.Ser2594Ter	rs1382604743	stop gained	-	NC_000005.10:g.37158255G>C	gnomAD
CPLANE1	Q9H799	p.Pro2595Leu	rs139756203	missense variant	-	NC_000005.10:g.37158252G>A	ESP
CPLANE1	Q9H799	p.Ile2597Met	rs1458394098	missense variant	-	NC_000005.10:g.37158245T>C	gnomAD
CPLANE1	Q9H799	p.Ile2597Val	rs774074728	missense variant	-	NC_000005.10:g.37158247T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2599Arg	rs940440264	missense variant	-	NC_000005.10:g.37158240T>C	TOPMed
CPLANE1	Q9H799	p.Thr2600Ile	rs748908546	missense variant	-	NC_000005.10:g.37158237G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2600Ala	rs768154559	missense variant	-	NC_000005.10:g.37158238T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2601Ala	rs769282058	missense variant	-	NC_000005.10:g.37158234A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2602Arg	rs778078642	missense variant	-	NC_000005.10:g.37158231G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2602Ile	rs778078642	missense variant	-	NC_000005.10:g.37158231G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn2603Tyr	rs1260144413	missense variant	-	NC_000005.10:g.37158229T>A	gnomAD
CPLANE1	Q9H799	p.Leu2604Phe	rs758807080	missense variant	-	NC_000005.10:g.37158224C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2605Lys	rs755388205	missense variant	-	NC_000005.10:g.37157814C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2606Ter	RCV000415153	nonsense	Global developmental delay (DD)	NC_000005.10:g.37157810A>T	ClinVar
CPLANE1	Q9H799	p.Leu2606Ter	RCV000255254	nonsense	-	NC_000005.10:g.37157810A>T	ClinVar
CPLANE1	Q9H799	p.Leu2606Ter	rs749523755	stop gained	-	NC_000005.10:g.37157810A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2606Ter	RCV000646703	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37157810A>T	ClinVar
CPLANE1	Q9H799	p.Leu2606Ter	RCV000201773	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37157810A>T	ClinVar
CPLANE1	Q9H799	p.Pro2607Ser	rs780364860	missense variant	-	NC_000005.10:g.37157808G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2607Thr	rs780364860	missense variant	-	NC_000005.10:g.37157808G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2608Leu	rs1172144094	missense variant	-	NC_000005.10:g.37157805C>G	gnomAD
CPLANE1	Q9H799	p.Glu2610Val	rs200930248	missense variant	-	NC_000005.10:g.37157798T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2616Ser	rs375351922	missense variant	-	NC_000005.10:g.37157780T>C	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2621Ter	rs200125242	stop gained	-	NC_000005.10:g.37157766G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2621Leu	rs909028294	missense variant	-	NC_000005.10:g.37157765T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2621Lys	rs200125242	missense variant	-	NC_000005.10:g.37157766G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2623Asn	rs763944746	missense variant	-	NC_000005.10:g.37157760C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2626Val	rs762672416	missense variant	-	NC_000005.10:g.37157750G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2627Ile	rs1278821839	missense variant	-	NC_000005.10:g.37157748C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2629Ala	rs1341812944	missense variant	-	NC_000005.10:g.37157742A>C	gnomAD
CPLANE1	Q9H799	p.Ser2629Leu	rs202140926	missense variant	-	NC_000005.10:g.37157741G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2631Gly	rs1373212737	missense variant	-	NC_000005.10:g.37157735G>C	gnomAD
CPLANE1	Q9H799	p.His2634Arg	RCV000304848	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37157726T>C	ClinVar
CPLANE1	Q9H799	p.His2634Arg	rs373755833	missense variant	-	NC_000005.10:g.37157726T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr2635Cys	rs371374142	missense variant	-	NC_000005.10:g.37157723T>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2636Val	rs762290119	missense variant	-	NC_000005.10:g.37157721T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2636Thr	rs1340028712	missense variant	-	NC_000005.10:g.37157720A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2637Val	rs778345084	missense variant	-	NC_000005.10:g.37157717G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2638Val	rs769154511	missense variant	-	NC_000005.10:g.37157714G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2638Gly	rs769154511	missense variant	-	NC_000005.10:g.37157714G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2639Leu	rs79399627	missense variant	-	NC_000005.10:g.37157711G>A	-
CPLANE1	Q9H799	p.Val2640Ile	rs988332114	missense variant	-	NC_000005.10:g.37157709C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2642Asp	rs756411183	missense variant	-	NC_000005.10:g.37157703T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2642His	rs756411183	missense variant	-	NC_000005.10:g.37157703T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2642Lys	rs1218533130	missense variant	-	NC_000005.10:g.37157701A>C	gnomAD
CPLANE1	Q9H799	p.Val2644Leu	RCV000266245	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37157697C>G	ClinVar
CPLANE1	Q9H799	p.Val2644Leu	rs772274656	missense variant	-	NC_000005.10:g.37157697C>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2645Ser	rs187659028	missense variant	-	NC_000005.10:g.37157694G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2646Ter	RCV000530477	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37157693_37157694del	ClinVar
CPLANE1	Q9H799	p.Pro2646Gln	rs896218202	missense variant	-	NC_000005.10:g.37157690G>T	gnomAD
CPLANE1	Q9H799	p.His2647Tyr	rs1232111191	missense variant	-	NC_000005.10:g.37157688G>A	gnomAD
CPLANE1	Q9H799	p.Phe2659Leu	rs916238209	missense variant	-	NC_000005.10:g.37153974G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2660Ter	rs147416429	stop gained	-	NC_000005.10:g.37153973G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2660Gln	rs765750324	missense variant	-	NC_000005.10:g.37153972C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2660Ter	RCV000201628	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37153973G>A	ClinVar
CPLANE1	Q9H799	p.Gln2664Leu	rs759855888	missense variant	-	NC_000005.10:g.37153960T>A	ExAC
CPLANE1	Q9H799	p.Lys2667Glu	rs777081792	missense variant	-	NC_000005.10:g.37153952T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2673Tyr	rs1217204932	missense variant	-	NC_000005.10:g.37153934C>A	gnomAD
CPLANE1	Q9H799	p.Tyr2674Phe	rs1316822863	missense variant	-	NC_000005.10:g.37153930T>A	gnomAD
CPLANE1	Q9H799	p.Lys2678Gln	rs773422060	missense variant	-	NC_000005.10:g.37153919T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2679Trp	rs142792453	missense variant	-	NC_000005.10:g.37153916G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2679Gln	rs748207149	missense variant	-	NC_000005.10:g.37153915C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2679Trp	RCV000358559	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37153916G>A	ClinVar
CPLANE1	Q9H799	p.Gly2682Arg	rs768671286	missense variant	-	NC_000005.10:g.37153907C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly2682Asp	rs1174907463	missense variant	-	NC_000005.10:g.37153906C>T	gnomAD
CPLANE1	Q9H799	p.Ala2684Thr	VAR_082878	Missense	Joubert syndrome 17 (JBTS17) [MIM:614615]	-	UniProt
CPLANE1	Q9H799	p.Cys2687Phe	rs1453011000	missense variant	-	NC_000005.10:g.37153891C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2694Pro	rs749132510	missense variant	-	NC_000005.10:g.37153871C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2694Thr	RCV000597090	missense variant	-	NC_000005.10:g.37153871C>T	ClinVar
CPLANE1	Q9H799	p.Ala2694Thr	rs749132510	missense variant	-	NC_000005.10:g.37153871C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.His2695Arg	rs1321227202	missense variant	-	NC_000005.10:g.37153867T>C	TOPMed
CPLANE1	Q9H799	p.Gln2696Glu	rs143060853	missense variant	-	NC_000005.10:g.37153865G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2696Ter	rs143060853	stop gained	-	NC_000005.10:g.37153865G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2696His	rs769645726	missense variant	-	NC_000005.10:g.37153863T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2696His	rs769645726	missense variant	-	NC_000005.10:g.37153863T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2697Val	rs1248343536	missense variant	-	NC_000005.10:g.37153862G>C	TOPMed
CPLANE1	Q9H799	p.His2699Gln	rs1466001074	missense variant	-	NC_000005.10:g.37153854A>T	TOPMed
CPLANE1	Q9H799	p.Ser2701Arg	rs149463060	missense variant	-	NC_000005.10:g.37153848A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2702Ser	rs1485846234	missense variant	-	NC_000005.10:g.37153847C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2707Ser	rs764690794	missense variant	-	NC_000005.10:g.37153831A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2707Thr	rs764690794	missense variant	-	NC_000005.10:g.37153831A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2708His	rs1335627553	missense variant	-	NC_000005.10:g.37153829C>G	gnomAD
CPLANE1	Q9H799	p.Asp2708Glu	rs114126795	missense variant	-	NC_000005.10:g.37153827G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2709Lys	rs200612080	missense variant	-	NC_000005.10:g.37153826C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2709Lys	RCV000547081	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37153826C>T	ClinVar
CPLANE1	Q9H799	p.Gln2710Arg	rs754236106	missense variant	-	NC_000005.10:g.37153822T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2710His	rs766837329	missense variant	-	NC_000005.10:g.37153821C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2710Pro	rs754236106	missense variant	-	NC_000005.10:g.37153822T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2711Phe	rs761017519	missense variant	-	NC_000005.10:g.37153818C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2714Thr	rs1375688917	missense variant	-	NC_000005.10:g.37153810A>G	gnomAD
CPLANE1	Q9H799	p.Ile2714Val	rs767698613	missense variant	-	NC_000005.10:g.37153811T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn2716Lys	rs1393176165	missense variant	-	NC_000005.10:g.37153803G>C	gnomAD
CPLANE1	Q9H799	p.Ala2718Thr	rs761984446	missense variant	-	NC_000005.10:g.37153799C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2719Lys	rs1466899045	missense variant	-	NC_000005.10:g.37153796C>T	gnomAD
CPLANE1	Q9H799	p.Ile2721Val	rs768561508	missense variant	-	NC_000005.10:g.37153790T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2721Met	rs1280623208	missense variant	-	NC_000005.10:g.37153788T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2722Phe	RCV000723060	missense variant	-	NC_000005.10:g.37153785_37153787delinsAAA	ClinVar
CPLANE1	Q9H799	p.Glu2722Val	rs775284647	missense variant	-	NC_000005.10:g.37153786T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2722Asp	rs769769195	missense variant	-	NC_000005.10:g.37153785T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2722Ter	rs762951863	stop gained	-	NC_000005.10:g.37153787C>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2723Ter	rs863225152	stop gained	-	NC_000005.10:g.37153784G>A	-
CPLANE1	Q9H799	p.Gln2723Ter	RCV000201646	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37153784G>A	ClinVar
CPLANE1	Q9H799	p.Lys2727Asn	rs1469286509	missense variant	-	NC_000005.10:g.37153770C>A	gnomAD
CPLANE1	Q9H799	p.Pro2728Thr	rs77014998	missense variant	-	NC_000005.10:g.37153769G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2728Thr	RCV000395988	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37153769G>T	ClinVar
CPLANE1	Q9H799	p.Met2730Ile	rs781029281	missense variant	-	NC_000005.10:g.37153761C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Leu2731Val	rs770735282	missense variant	-	NC_000005.10:g.37153760G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2733Val	rs777345649	missense variant	-	NC_000005.10:g.37153754G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His2734Arg	rs541921016	missense variant	-	NC_000005.10:g.37153750T>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Cys2735Ser	rs754429808	missense variant	-	NC_000005.10:g.37153747C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Cys2735Ser	rs1222784721	missense variant	-	NC_000005.10:g.37153748A>T	TOPMed
CPLANE1	Q9H799	p.Ile2738Thr	rs372318347	missense variant	-	NC_000005.10:g.37148267A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2742Gly	rs1435661090	missense variant	-	NC_000005.10:g.37148255T>C	gnomAD
CPLANE1	Q9H799	p.His2743Tyr	rs1375375538	missense variant	-	NC_000005.10:g.37148253G>A	gnomAD
CPLANE1	Q9H799	p.Ile2744Thr	rs368365632	missense variant	-	NC_000005.10:g.37148249A>G	ESP,ExAC,gnomAD
CPLANE1	Q9H799	p.Phe2746Leu	rs1455795556	missense variant	-	NC_000005.10:g.37148242G>T	gnomAD
CPLANE1	Q9H799	p.Ser2747Pro	rs1364512527	missense variant	-	NC_000005.10:g.37148241A>G	gnomAD
CPLANE1	Q9H799	p.Pro2750Ser	rs377107065	missense variant	-	NC_000005.10:g.37148232G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2753Asn	rs1278006579	missense variant	-	NC_000005.10:g.37148221T>A	TOPMed
CPLANE1	Q9H799	p.Lys2754Glu	rs1188408039	missense variant	-	NC_000005.10:g.37148220T>C	gnomAD
CPLANE1	Q9H799	p.Thr2755Ter	RCV000201730	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37148223dup	ClinVar
CPLANE1	Q9H799	p.Thr2755Ter	RCV000687643	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37148223del	ClinVar
CPLANE1	Q9H799	p.Thr2755Ter	RCV000201534	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37148216_37148217insC	ClinVar
CPLANE1	Q9H799	p.Thr2755Ter	RCV000646711	frameshift	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37148216_37148217insC	ClinVar
CPLANE1	Q9H799	p.Thr2755Ter	RCV000415331	frameshift	Global developmental delay (DD)	NC_000005.10:g.37148223dup	ClinVar
CPLANE1	Q9H799	p.Ala2757Val	rs140657139	missense variant	-	NC_000005.10:g.37148210G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2759Glu	rs1206876437	missense variant	-	NC_000005.10:g.37148205T>C	gnomAD
CPLANE1	Q9H799	p.Thr2760Asn	rs752852852	missense variant	-	NC_000005.10:g.37148201G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2761Val	rs1284994227	missense variant	-	NC_000005.10:g.37148199T>C	gnomAD
CPLANE1	Q9H799	p.Ser2762Arg	rs1356986827	missense variant	-	NC_000005.10:g.37148194G>C	gnomAD
CPLANE1	Q9H799	p.Ser2762Asn	rs765356032	missense variant	-	NC_000005.10:g.37148195C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2763Val	rs1293453280	missense variant	-	NC_000005.10:g.37148193T>C	gnomAD
CPLANE1	Q9H799	p.Arg2768Cys	rs758569421	missense variant	-	NC_000005.10:g.37142478G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2768His	rs752905880	missense variant	-	NC_000005.10:g.37142477C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2768Ser	rs758569421	missense variant	-	NC_000005.10:g.37142478G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2771Ile	rs142316931	missense variant	-	NC_000005.10:g.37142468G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2773Val	rs1014611980	missense variant	-	NC_000005.10:g.37142463T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2779Asn	rs766198617	missense variant	-	NC_000005.10:g.37142444C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2779Thr	rs766198617	missense variant	-	NC_000005.10:g.37142444C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2782Glu	rs1191010738	missense variant	-	NC_000005.10:g.37142436T>C	gnomAD
CPLANE1	Q9H799	p.Glu2786Lys	rs370334507	missense variant	-	NC_000005.10:g.37142424C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2791Val	rs561289580	missense variant	-	NC_000005.10:g.37142409T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr2792Ser	rs773990114	missense variant	-	NC_000005.10:g.37142406T>A	ExAC
CPLANE1	Q9H799	p.Glu2793Gln	RCV000403777	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37142403C>G	ClinVar
CPLANE1	Q9H799	p.Glu2793Val	rs1313782081	missense variant	-	NC_000005.10:g.37142402T>A	TOPMed
CPLANE1	Q9H799	p.Glu2793Gln	rs886060574	missense variant	-	NC_000005.10:g.37142403C>G	-
CPLANE1	Q9H799	p.Asn2794Lys	rs768212399	missense variant	-	NC_000005.10:g.37142398A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2796Tyr	rs762428272	missense variant	-	NC_000005.10:g.37142393G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Phe2803Ile	rs778010488	missense variant	-	NC_000005.10:g.37142373A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2807Asn	rs748445168	missense variant	-	NC_000005.10:g.37142361C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2808Leu	rs1477186639	missense variant	-	NC_000005.10:g.37142357G>A	TOPMed
CPLANE1	Q9H799	p.Ser2808Ter	rs1477186639	stop gained	-	NC_000005.10:g.37142357G>C	TOPMed
CPLANE1	Q9H799	p.Ser2811Asn	rs752341833	missense variant	-	NC_000005.10:g.37142348C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2812Pro	rs755153238	missense variant	-	NC_000005.10:g.37142345A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2814Cys	rs780136856	missense variant	-	NC_000005.10:g.37142340T>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2814Arg	rs780136856	missense variant	-	NC_000005.10:g.37142340T>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2814Ile	rs756020116	missense variant	-	NC_000005.10:g.37142339C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2816Gly	rs1242922506	missense variant	-	NC_000005.10:g.37142334T>C	gnomAD
CPLANE1	Q9H799	p.Asp2817His	rs1451962517	missense variant	-	NC_000005.10:g.37142331C>G	gnomAD
CPLANE1	Q9H799	p.Asp2817Gly	rs750310066	missense variant	-	NC_000005.10:g.37142330T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln2818Arg	rs1204834796	missense variant	-	NC_000005.10:g.37142327T>C	gnomAD
CPLANE1	Q9H799	p.Thr2821Ala	rs563494619	missense variant	-	NC_000005.10:g.37142319T>C	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2821Ser	rs563494619	missense variant	-	NC_000005.10:g.37142319T>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2822Cys	rs763705214	missense variant	-	NC_000005.10:g.37142315G>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2822Ala	rs751260970	missense variant	-	NC_000005.10:g.37142316A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2825Val	rs991518920	missense variant	-	NC_000005.10:g.37139368T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn2826Ile	rs1224364424	missense variant	-	NC_000005.10:g.37139364T>A	gnomAD
CPLANE1	Q9H799	p.Ser2827Gly	rs1033912985	missense variant	-	NC_000005.10:g.37139362T>C	gnomAD
CPLANE1	Q9H799	p.Ser2828Asn	rs1283787523	missense variant	-	NC_000005.10:g.37139358C>T	TOPMed
CPLANE1	Q9H799	p.Ser2828Gly	rs1222182691	missense variant	-	NC_000005.10:g.37139359T>C	TOPMed
CPLANE1	Q9H799	p.Glu2830Lys	rs1286612650	missense variant	-	NC_000005.10:g.37139353C>T	gnomAD
CPLANE1	Q9H799	p.Leu2831Phe	rs139793397	missense variant	-	NC_000005.10:g.37139348C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2833Lys	rs757083511	missense variant	-	NC_000005.10:g.37139344C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Val2837Ter	RCV000478868	frameshift	-	NC_000005.10:g.37138834_37138840delinsAT	ClinVar
CPLANE1	Q9H799	p.Val2837Leu	VAR_072544	Missense	Orofaciodigital syndrome 6 (OFD6) [MIM:277170]	-	UniProt
CPLANE1	Q9H799	p.His2838Tyr	RCV000290704	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37138838G>A	ClinVar
CPLANE1	Q9H799	p.His2838Tyr	RCV000145385	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37138838G>A	ClinVar
CPLANE1	Q9H799	p.His2838Tyr	rs201404524	missense variant	-	NC_000005.10:g.37138838G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2839Leu	RCV000382022	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37138834G>A	ClinVar
CPLANE1	Q9H799	p.Pro2839Gln	rs147426388	missense variant	-	NC_000005.10:g.37138834G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2839Leu	rs147426388	missense variant	-	NC_000005.10:g.37138834G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro2839Leu	RCV000646708	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37138834G>A	ClinVar
CPLANE1	Q9H799	p.Pro2839Leu	RCV000419680	missense variant	-	NC_000005.10:g.37138834G>A	ClinVar
CPLANE1	Q9H799	p.Met2842Lys	rs752346313	missense variant	-	NC_000005.10:g.37138825A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2842Thr	rs752346313	missense variant	-	NC_000005.10:g.37138825A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr2846Ile	rs1025710972	missense variant	-	NC_000005.10:g.37138813G>A	TOPMed
CPLANE1	Q9H799	p.Asp2847Asn	rs539409643	missense variant	-	NC_000005.10:g.37138811C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Ala2849Ser	rs1219639210	missense variant	-	NC_000005.10:g.37138805C>A	gnomAD
CPLANE1	Q9H799	p.Ala2849Val	rs754550865	missense variant	-	NC_000005.10:g.37138804G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp2850Gly	rs144427399	missense variant	-	NC_000005.10:g.37138801T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2850Glu	rs1213953764	missense variant	-	NC_000005.10:g.37138800G>C	gnomAD
CPLANE1	Q9H799	p.Asp2850Gly	RCV000325059	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37138801T>C	ClinVar
CPLANE1	Q9H799	p.Ile2851Val	rs1464182324	missense variant	-	NC_000005.10:g.37138799T>C	TOPMed
CPLANE1	Q9H799	p.Ile2852Thr	rs765933233	missense variant	-	NC_000005.10:g.37138795A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2852Val	rs1305021238	missense variant	-	NC_000005.10:g.37138796T>C	gnomAD
CPLANE1	Q9H799	p.Leu2855Phe	rs1254666516	missense variant	-	NC_000005.10:g.37138787G>A	TOPMed
CPLANE1	Q9H799	p.Ile2857Asn	rs1463191144	missense variant	-	NC_000005.10:g.37138780A>T	gnomAD
CPLANE1	Q9H799	p.Ile2857Val	rs1291503086	missense variant	-	NC_000005.10:g.37138781T>C	gnomAD
CPLANE1	Q9H799	p.Lys2858Glu	rs1356697325	missense variant	-	NC_000005.10:g.37138778T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2858Ter	rs1356697325	stop gained	-	NC_000005.10:g.37138778T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2860Arg	rs764611797	missense variant	-	NC_000005.10:g.37138772C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val2861Leu	rs1388792860	missense variant	-	NC_000005.10:g.37138769C>G	gnomAD
CPLANE1	Q9H799	p.Ser2862Cys	rs1454812528	missense variant	-	NC_000005.10:g.37138765G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2862Pro	rs139554617	missense variant	-	NC_000005.10:g.37138766A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2863Gly	rs775613776	missense variant	-	NC_000005.10:g.37138763T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser2863Arg	rs770084934	missense variant	-	NC_000005.10:g.37138761A>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2866Phe	rs1481722112	missense variant	-	NC_000005.10:g.37138754G>A	gnomAD
CPLANE1	Q9H799	p.Gly2867Ser	rs553622028	missense variant	-	NC_000005.10:g.37138751C>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2870Ter	RCV000432168	nonsense	-	NC_000005.10:g.37138742C>A	ClinVar
CPLANE1	Q9H799	p.Glu2870Ter	rs863225155	stop gained	-	NC_000005.10:g.37138742C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2873Val	RCV000646720	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37138733T>C	ClinVar
CPLANE1	Q9H799	p.Met2873Val	rs143626904	missense variant	-	NC_000005.10:g.37138733T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2873Val	RCV000178585	missense variant	-	NC_000005.10:g.37138733T>C	ClinVar
CPLANE1	Q9H799	p.Arg2877Gly	rs953624404	missense variant	-	NC_000005.10:g.37138721T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2879Lys	rs760841610	missense variant	-	NC_000005.10:g.37125405G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2879Ter	rs760841610	stop gained	-	NC_000005.10:g.37125405G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2880Arg	rs1014698599	missense variant	-	NC_000005.10:g.37125401T>C	TOPMed
CPLANE1	Q9H799	p.His2880Leu	rs1014698599	missense variant	-	NC_000005.10:g.37125401T>A	TOPMed
CPLANE1	Q9H799	p.Tyr2881Asp	rs1449414767	missense variant	-	NC_000005.10:g.37125399A>C	TOPMed
CPLANE1	Q9H799	p.Ser2886Leu	rs773296645	missense variant	-	NC_000005.10:g.37125383G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2887Ter	rs1376344855	stop gained	-	NC_000005.10:g.37125381G>A	TOPMed
CPLANE1	Q9H799	p.Arg2888Ser	rs1227285224	missense variant	-	NC_000005.10:g.37125376T>G	TOPMed
CPLANE1	Q9H799	p.Thr2889Ile	rs778535345	missense variant	-	NC_000005.10:g.37125374G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Asp2890His	RCV000378615	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37125372C>G	ClinVar
CPLANE1	Q9H799	p.Asp2890His	rs761880579	missense variant	-	NC_000005.10:g.37125372C>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys2891Arg	rs774142742	missense variant	-	NC_000005.10:g.37125368T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2892Gly	rs1257200720	missense variant	-	NC_000005.10:g.37125365T>C	TOPMed
CPLANE1	Q9H799	p.Arg2893Lys	rs757658944	missense variant	-	NC_000005.10:g.37125362C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2893Ser	rs1366512924	missense variant	-	NC_000005.10:g.37125361T>A	gnomAD
CPLANE1	Q9H799	p.Arg2894Gly	rs769590748	missense variant	-	NC_000005.10:g.37125360T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile2896Thr	rs1235702604	missense variant	-	NC_000005.10:g.37125353A>G	TOPMed
CPLANE1	Q9H799	p.Trp2899Ter	rs1482303814	stop gained	-	NC_000005.10:g.37125344C>T	TOPMed
CPLANE1	Q9H799	p.Trp2899Ter	RCV000785944	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125344C>T	ClinVar
CPLANE1	Q9H799	p.Met2900Lys	rs993541635	missense variant	-	NC_000005.10:g.37125341A>T	TOPMed
CPLANE1	Q9H799	p.Arg2902Ser	rs1396778803	missense variant	-	NC_000005.10:g.37125334T>A	gnomAD
CPLANE1	Q9H799	p.Arg2904Ter	RCV000523918	nonsense	-	NC_000005.10:g.37125330G>A	ClinVar
CPLANE1	Q9H799	p.Arg2904Ter	rs141507441	stop gained	-	NC_000005.10:g.37125330G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2904Gln	rs533791946	missense variant	-	NC_000005.10:g.37125329C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2904Ter	RCV000201591	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125330G>A	ClinVar
CPLANE1	Q9H799	p.Glu2906Ter	RCV000201530	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125324C>A	ClinVar
CPLANE1	Q9H799	p.Glu2906Ter	rs863225153	stop gained	-	NC_000005.10:g.37125324C>A	-
CPLANE1	Q9H799	p.Glu2906Gly	rs1388357376	missense variant	-	NC_000005.10:g.37125323T>C	gnomAD
CPLANE1	Q9H799	p.Arg2907Gly	rs756716882	missense variant	-	NC_000005.10:g.37125321T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2908Thr	rs753301470	missense variant	-	NC_000005.10:g.37125317A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala2909Ter	RCV000201559	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37125316del	ClinVar
CPLANE1	Q9H799	p.Tyr2911Cys	rs374005945	missense variant	-	NC_000005.10:g.37125308T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2915Met	rs1455247765	missense variant	-	NC_000005.10:g.37125297G>T	gnomAD
CPLANE1	Q9H799	p.Leu2915Pro	rs1178837081	missense variant	-	NC_000005.10:g.37125296A>G	TOPMed
CPLANE1	Q9H799	p.Ala2916Glu	rs1192066775	missense variant	-	NC_000005.10:g.37125293G>T	gnomAD
CPLANE1	Q9H799	p.Ala2916Thr	rs369585190	missense variant	-	NC_000005.10:g.37125294C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2920Val	rs776510943	missense variant	-	NC_000005.10:g.37125281C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2920Glu	rs776510943	missense variant	-	NC_000005.10:g.37125281C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2922Lys	rs1288213208	missense variant	-	NC_000005.10:g.37125276C>T	gnomAD
CPLANE1	Q9H799	p.His2923Arg	rs767695592	missense variant	-	NC_000005.10:g.37125272T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2923Tyr	rs547705616	missense variant	-	NC_000005.10:g.37125273G>A	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Pro2925His	rs113008648	missense variant	-	NC_000005.10:g.37125266G>T	gnomAD
CPLANE1	Q9H799	p.Pro2928Ser	rs1275477780	missense variant	-	NC_000005.10:g.37125258G>A	gnomAD
CPLANE1	Q9H799	p.Arg2929Ter	RCV000646712	nonsense	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37125255T>A	ClinVar
CPLANE1	Q9H799	p.Arg2929Ter	rs1345413118	stop gained	-	NC_000005.10:g.37125255T>A	TOPMed
CPLANE1	Q9H799	p.Arg2929Gly	rs1345413118	missense variant	-	NC_000005.10:g.37125255T>C	TOPMed
CPLANE1	Q9H799	p.Ser2930Thr	rs1436064006	missense variant	-	NC_000005.10:g.37125251C>G	gnomAD
CPLANE1	Q9H799	p.Asn2931Ser	rs774388863	missense variant	-	NC_000005.10:g.37125248T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn2931Asp	rs1330650709	missense variant	-	NC_000005.10:g.37125249T>C	gnomAD
CPLANE1	Q9H799	p.Pro2932Leu	rs201423077	missense variant	-	NC_000005.10:g.37125245G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Met2935Leu	rs775563318	missense variant	-	NC_000005.10:g.37122482T>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2935Val	rs775563318	missense variant	-	NC_000005.10:g.37122482T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2938Lys	rs1469826743	missense variant	-	NC_000005.10:g.37122472C>T	TOPMed
CPLANE1	Q9H799	p.Arg2938Gly	rs1210023199	missense variant	-	NC_000005.10:g.37122473T>C	gnomAD
CPLANE1	Q9H799	p.Ile2940Thr	rs759378976	missense variant	-	NC_000005.10:g.37122466A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg2941Thr	rs1229286937	missense variant	-	NC_000005.10:g.37122463C>G	gnomAD
CPLANE1	Q9H799	p.Arg2941Ser	rs924779439	missense variant	-	NC_000005.10:g.37122462C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2944Glu	rs1234849009	missense variant	-	NC_000005.10:g.37122455G>C	gnomAD
CPLANE1	Q9H799	p.Lys2945Glu	rs1379815651	missense variant	-	NC_000005.10:g.37122452T>C	gnomAD
CPLANE1	Q9H799	p.Lys2945Ter	RCV000545225	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37122454del	ClinVar
CPLANE1	Q9H799	p.Met2946Thr	rs148987541	missense variant	-	NC_000005.10:g.37122448A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2949Lys	rs374386158	missense variant	-	NC_000005.10:g.37122440C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2952Gly	RCV000764605	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37122431T>C	ClinVar
CPLANE1	Q9H799	p.Arg2952Gly	RCV000263974	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37122431T>C	ClinVar
CPLANE1	Q9H799	p.Arg2952Gly	RCV000426156	missense variant	-	NC_000005.10:g.37122431T>C	ClinVar
CPLANE1	Q9H799	p.Arg2952Gly	rs116198390	missense variant	-	NC_000005.10:g.37122431T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2954Pro	rs1327570168	missense variant	-	NC_000005.10:g.37121779A>G	gnomAD
CPLANE1	Q9H799	p.Leu2955Phe	rs758537775	missense variant	-	NC_000005.10:g.37121777G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Glu2957Lys	rs200358545	missense variant	-	NC_000005.10:g.37121771C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu2957Gln	rs200358545	missense variant	-	NC_000005.10:g.37121771C>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2958Leu	rs753593935	missense variant	-	NC_000005.10:g.37121767T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His2958Arg	rs753593935	missense variant	-	NC_000005.10:g.37121767T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Tyr2959Cys	rs143453963	missense variant	-	NC_000005.10:g.37121764T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.TyrSer2959Ter	rs781525957	stop gained	-	NC_000005.10:g.37121764_37121765del	ExAC
CPLANE1	Q9H799	p.Ser2960Cys	rs760313941	missense variant	-	NC_000005.10:g.37121762T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2961His	rs771622959	missense variant	-	NC_000005.10:g.37121758C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2961Cys	rs138862600	missense variant	-	NC_000005.10:g.37121759G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2962Ter	rs150242262	stop gained	-	NC_000005.10:g.37121756G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg2962Gln	rs1264659510	missense variant	-	NC_000005.10:g.37121755C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile2963Phe	rs1219035432	missense variant	-	NC_000005.10:g.37121753T>A	gnomAD
CPLANE1	Q9H799	p.Ala2966Thr	rs1204050098	missense variant	-	NC_000005.10:g.37121744C>T	TOPMed
CPLANE1	Q9H799	p.Ala2966Val	rs1227556127	missense variant	-	NC_000005.10:g.37121743G>A	gnomAD
CPLANE1	Q9H799	p.Gly2968Ser	rs540797695	missense variant	-	NC_000005.10:g.37121738C>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly2968Cys	rs540797695	missense variant	-	NC_000005.10:g.37121738C>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met2970Ile	rs921440177	missense variant	-	NC_000005.10:g.37121730C>T	TOPMed
CPLANE1	Q9H799	p.Asn2971Lys	rs573500656	missense variant	-	NC_000005.10:g.37121727A>T	1000Genomes
CPLANE1	Q9H799	p.Leu2973Pro	rs771321110	missense variant	-	NC_000005.10:g.37121722A>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2975Ter	RCV000178670	frameshift	-	NC_000005.10:g.37121717del	ClinVar
CPLANE1	Q9H799	p.Gln2979Arg	rs1388428909	missense variant	-	NC_000005.10:g.37121704T>C	gnomAD
CPLANE1	Q9H799	p.Thr2982Ala	rs1189688089	missense variant	-	NC_000005.10:g.37121696T>C	gnomAD
CPLANE1	Q9H799	p.Pro2984Gln	rs779085289	missense variant	-	NC_000005.10:g.37121689G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu2988Ser	rs1204398118	missense variant	-	NC_000005.10:g.37121677A>G	gnomAD
CPLANE1	Q9H799	p.Pro2992Leu	rs766147646	missense variant	-	NC_000005.10:g.37121665G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser2993Arg	rs1298825292	missense variant	-	NC_000005.10:g.37121661G>T	gnomAD
CPLANE1	Q9H799	p.Thr2995Ile	rs767189816	missense variant	-	NC_000005.10:g.37121656G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln2996Arg	rs1348541209	missense variant	-	NC_000005.10:g.37121653T>C	gnomAD
CPLANE1	Q9H799	p.Ser2998Cys	rs557372169	missense variant	-	NC_000005.10:g.37121647G>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3002Asp	rs1466675239	missense variant	-	NC_000005.10:g.37121636G>C	gnomAD
CPLANE1	Q9H799	p.Cys3003Phe	rs1174281544	missense variant	-	NC_000005.10:g.37121632C>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys3003Tyr	rs1174281544	missense variant	-	NC_000005.10:g.37121632C>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys3003Gly	rs760027584	missense variant	-	NC_000005.10:g.37121633A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3004Arg	rs1412478483	missense variant	-	NC_000005.10:g.37121629G>C	gnomAD
CPLANE1	Q9H799	p.Pro3004Ala	rs919902868	missense variant	-	NC_000005.10:g.37121630G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3004Thr	rs919902868	missense variant	-	NC_000005.10:g.37121630G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3006Ala	rs1181129895	missense variant	-	NC_000005.10:g.37121624G>C	gnomAD
CPLANE1	Q9H799	p.Gly3008Glu	rs777181922	missense variant	-	NC_000005.10:g.37121617C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.His3012Arg	rs763568516	missense variant	-	NC_000005.10:g.37120329T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His3014Arg	rs1437287502	missense variant	-	NC_000005.10:g.37120323T>C	gnomAD
CPLANE1	Q9H799	p.Ser3015Gly	rs1366020937	missense variant	-	NC_000005.10:g.37120321T>C	gnomAD
CPLANE1	Q9H799	p.Ser3015Asn	rs762501521	missense variant	-	NC_000005.10:g.37120320C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ile3018Arg	rs766937227	missense variant	-	NC_000005.10:g.37120311A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn3019Lys	rs761211263	missense variant	-	NC_000005.10:g.37120307A>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg3020Gln	rs772495694	missense variant	-	NC_000005.10:g.37120305C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Arg3020Ter	RCV000201669	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37120306G>A	ClinVar
CPLANE1	Q9H799	p.Arg3020Ter	RCV000357854	nonsense	-	NC_000005.10:g.37120306G>A	ClinVar
CPLANE1	Q9H799	p.Arg3020Ter	RCV000697060	nonsense	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37120306G>A	ClinVar
CPLANE1	Q9H799	p.Arg3020Ter	rs374144275	stop gained	-	NC_000005.10:g.37120306G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3022Ala	rs376064818	missense variant	-	NC_000005.10:g.37120299C>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3022Glu	rs376064818	missense variant	-	NC_000005.10:g.37120299C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3022Arg	rs369676478	missense variant	-	NC_000005.10:g.37120300C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3023Asn	rs1246855644	missense variant	-	NC_000005.10:g.37120295T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3025Glu	rs1186324419	missense variant	-	NC_000005.10:g.37120291T>C	gnomAD
CPLANE1	Q9H799	p.Tyr3026Cys	rs768661673	missense variant	-	NC_000005.10:g.37120287T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Met3027Thr	rs1210751950	missense variant	-	NC_000005.10:g.37120284A>G	gnomAD
CPLANE1	Q9H799	p.Ser3028Thr	rs545791930	missense variant	-	NC_000005.10:g.37120282A>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser3028Ala	rs545791930	missense variant	-	NC_000005.10:g.37120282A>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3030Leu	rs745740741	missense variant	-	NC_000005.10:g.37120275G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Tyr3032Cys	rs767489407	missense variant	-	NC_000005.10:g.37120269T>C	gnomAD
CPLANE1	Q9H799	p.Ile3033Met	rs757032050	missense variant	-	NC_000005.10:g.37120265G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.His3034Arg	rs547370426	missense variant	-	NC_000005.10:g.37120263T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3034Arg	RCV000353311	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37120263T>C	ClinVar
CPLANE1	Q9H799	p.Lys3035Asn	rs1479213208	missense variant	-	NC_000005.10:g.37120259C>A	TOPMed
CPLANE1	Q9H799	p.Phe3039Ser	rs1363467509	missense variant	-	NC_000005.10:g.37120248A>G	TOPMed,gnomAD
CPLANE1	Q9H799	p.Phe3039Leu	rs1386068597	missense variant	-	NC_000005.10:g.37120249A>G	gnomAD
CPLANE1	Q9H799	p.Phe3039Leu	rs763770473	missense variant	-	NC_000005.10:g.37120247A>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3040Glu	rs1458270148	missense variant	-	NC_000005.10:g.37120245C>T	TOPMed
CPLANE1	Q9H799	p.Gln3043Glu	rs752271088	missense variant	-	NC_000005.10:g.37120237G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3044Arg	rs764590602	missense variant	-	NC_000005.10:g.37120234C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser3045Leu	rs761266412	missense variant	-	NC_000005.10:g.37120230G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3046Ala	rs773845456	missense variant	-	NC_000005.10:g.37120228G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3046Leu	rs1197722149	missense variant	-	NC_000005.10:g.37120227G>A	gnomAD
CPLANE1	Q9H799	p.Trp3047Ter	rs762241209	stop gained	-	NC_000005.10:g.37120224C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3048Leu	rs1207975219	missense variant	-	NC_000005.10:g.37120221G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3048Arg	rs1207975219	missense variant	-	NC_000005.10:g.37120221G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.His3049Tyr	rs145378102	missense variant	-	NC_000005.10:g.37120219G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3049Arg	rs1274026508	missense variant	-	NC_000005.10:g.37120218T>C	gnomAD
CPLANE1	Q9H799	p.Thr3053Ala	rs1279382736	missense variant	-	NC_000005.10:g.37115041T>C	gnomAD
CPLANE1	Q9H799	p.Gln3057Arg	rs768173950	missense variant	-	NC_000005.10:g.37115028T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3058Arg	rs1228711864	missense variant	-	NC_000005.10:g.37115025T>C	gnomAD
CPLANE1	Q9H799	p.Lys3059Asn	rs368603190	missense variant	-	NC_000005.10:g.37115021T>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3059Arg	rs1349649894	missense variant	-	NC_000005.10:g.37115022T>C	gnomAD
CPLANE1	Q9H799	p.Gly3062Arg	RCV000314718	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37115014C>T	ClinVar
CPLANE1	Q9H799	p.Gly3062Arg	rs7702892	missense variant	-	NC_000005.10:g.37115014C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg3068Lys	rs1332890054	missense variant	-	NC_000005.10:g.37114995C>T	gnomAD
CPLANE1	Q9H799	p.Arg3068Gly	rs764300212	missense variant	-	NC_000005.10:g.37114996T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala3070Val	rs372396805	missense variant	-	NC_000005.10:g.37114989G>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3071Met	rs775560336	missense variant	-	NC_000005.10:g.37114986G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3071Ala	rs1185646161	missense variant	-	NC_000005.10:g.37114987T>C	TOPMed
CPLANE1	Q9H799	p.Gln3072Ter	rs759580516	stop gained	-	NC_000005.10:g.37114984G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln3072Arg	rs1171652500	missense variant	-	NC_000005.10:g.37114983T>C	TOPMed
CPLANE1	Q9H799	p.Ser3073Cys	rs1374830797	missense variant	-	NC_000005.10:g.37114980G>C	TOPMed
CPLANE1	Q9H799	p.Pro3074Ala	rs975378346	missense variant	-	NC_000005.10:g.37114978G>C	TOPMed
CPLANE1	Q9H799	p.Pro3074Leu	rs1319142896	missense variant	-	NC_000005.10:g.37114977G>A	TOPMed
CPLANE1	Q9H799	p.Val3075Ala	rs1347117644	missense variant	-	NC_000005.10:g.37114974A>G	TOPMed
CPLANE1	Q9H799	p.Thr3076Ala	rs1407685518	missense variant	-	NC_000005.10:g.37114972T>C	gnomAD
CPLANE1	Q9H799	p.Thr3076Ile	rs554956977	missense variant	-	NC_000005.10:g.37114971G>A	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3076Asn	rs554956977	missense variant	-	NC_000005.10:g.37114971G>T	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gln3078Arg	rs770872753	missense variant	-	NC_000005.10:g.37114965T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3080Asp	rs774240051	missense variant	-	NC_000005.10:g.37108471C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3080Val	rs774240051	missense variant	-	NC_000005.10:g.37108471C>A	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3080Ser	rs746860595	missense variant	-	NC_000005.10:g.37114960C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Asn3082Lys	rs538381493	missense variant	-	NC_000005.10:g.37108464A>T	1000Genomes,ExAC,gnomAD
CPLANE1	Q9H799	p.Pro3084Ala	rs144467995	missense variant	-	NC_000005.10:g.37108460G>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3084Leu	rs747597826	missense variant	-	NC_000005.10:g.37108459G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3084Gln	rs747597826	missense variant	-	NC_000005.10:g.37108459G>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Cys3085Arg	rs1417559748	missense variant	-	NC_000005.10:g.37108457A>G	gnomAD
CPLANE1	Q9H799	p.His3086Pro	rs1193137338	missense variant	-	NC_000005.10:g.37108453T>G	gnomAD
CPLANE1	Q9H799	p.Ser3087Ile	rs371000717	missense variant	-	NC_000005.10:g.37108450C>A	ESP,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser3087Gly	rs941718545	missense variant	-	NC_000005.10:g.37108451T>C	gnomAD
CPLANE1	Q9H799	p.Leu3088Pro	rs1483973488	missense variant	-	NC_000005.10:g.37108447A>G	gnomAD
CPLANE1	Q9H799	p.Gln3089Lys	rs755197162	missense variant	-	NC_000005.10:g.37108445G>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln3089Ter	rs755197162	stop gained	-	NC_000005.10:g.37108445G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His3090Gln	rs1219414305	missense variant	-	NC_000005.10:g.37108440A>T	gnomAD
CPLANE1	Q9H799	p.His3090Arg	rs754053320	missense variant	-	NC_000005.10:g.37108441T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3091Ile	rs1302870757	missense variant	-	NC_000005.10:g.37108438G>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3091Ala	rs766501293	missense variant	-	NC_000005.10:g.37108439T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Thr3091Lys	rs1302870757	missense variant	-	NC_000005.10:g.37108438G>T	TOPMed,gnomAD
CPLANE1	Q9H799	p.Lys3092Arg	rs1372872191	missense variant	-	NC_000005.10:g.37108435T>C	gnomAD
CPLANE1	Q9H799	p.His3094Tyr	rs760642862	missense variant	-	NC_000005.10:g.37108430G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His3094Arg	rs773303691	missense variant	-	NC_000005.10:g.37108429T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gly3095Glu	rs148666740	missense variant	-	NC_000005.10:g.37108426C>T	ESP,gnomAD
CPLANE1	Q9H799	p.Gly3098Arg	RCV000514597	missense variant	-	NC_000005.10:g.37108418C>T	ClinVar
CPLANE1	Q9H799	p.Gly3098Arg	rs144081297	missense variant	-	NC_000005.10:g.37108418C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3098Arg	RCV000417768	missense variant	-	NC_000005.10:g.37108418C>T	ClinVar
CPLANE1	Q9H799	p.Leu3099Phe	rs1428377660	missense variant	-	NC_000005.10:g.37108415G>A	gnomAD
CPLANE1	Q9H799	p.Gln3102Glu	rs774297305	missense variant	-	NC_000005.10:g.37108406G>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Gln3102Arg	rs768570313	missense variant	-	NC_000005.10:g.37108405T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Arg3112Gly	rs1222002652	missense variant	-	NC_000005.10:g.37108376T>C	gnomAD
CPLANE1	Q9H799	p.Thr3115Ser	rs1289574396	missense variant	-	NC_000005.10:g.37108366G>C	gnomAD
CPLANE1	Q9H799	p.Val3116Met	rs1394451975	missense variant	-	NC_000005.10:g.37108364C>T	gnomAD
CPLANE1	Q9H799	p.Thr3121Met	rs587783354	missense variant	-	NC_000005.10:g.37108348G>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Thr3121Met	RCV000145389	missense variant	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37108348G>A	ClinVar
CPLANE1	Q9H799	p.Pro3123Ser	rs1405549842	missense variant	-	NC_000005.10:g.37108343G>A	gnomAD
CPLANE1	Q9H799	p.His3127Pro	rs144698212	missense variant	-	NC_000005.10:g.37108330T>G	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3127Tyr	rs748587449	missense variant	-	NC_000005.10:g.37108331G>A	ExAC,gnomAD
CPLANE1	Q9H799	p.His3127Arg	rs144698212	missense variant	-	NC_000005.10:g.37108330T>C	1000Genomes,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3131Leu	rs373643291	missense variant	-	NC_000005.10:g.37108318T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.His3131Pro	rs373643291	missense variant	-	NC_000005.10:g.37108318T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser3133Asn	rs756312234	missense variant	-	NC_000005.10:g.37108312C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.His3134Arg	rs917196481	missense variant	-	NC_000005.10:g.37108309T>C	TOPMed
CPLANE1	Q9H799	p.Asn3135Asp	rs1257693653	missense variant	-	NC_000005.10:g.37108307T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Asn3135Tyr	rs1257693653	missense variant	-	NC_000005.10:g.37108307T>A	TOPMed,gnomAD
CPLANE1	Q9H799	p.Leu3138Val	rs886060572	missense variant	-	NC_000005.10:g.37108298G>C	TOPMed
CPLANE1	Q9H799	p.Leu3138Val	RCV000394029	missense variant	Joubert syndrome (JBTS)	NC_000005.10:g.37108298G>C	ClinVar
CPLANE1	Q9H799	p.Asp3140Asn	rs968530806	missense variant	-	NC_000005.10:g.37107778C>T	TOPMed
CPLANE1	Q9H799	p.Asp3140Gly	rs1247311236	missense variant	-	NC_000005.10:g.37107777T>C	gnomAD
CPLANE1	Q9H799	p.Leu3141Ser	rs780408914	missense variant	-	NC_000005.10:g.37107774A>G	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Pro3143Thr	rs1355287428	missense variant	-	NC_000005.10:g.37107769G>T	TOPMed
CPLANE1	Q9H799	p.Thr3144Ala	rs1437586068	missense variant	-	NC_000005.10:g.37107766T>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu3150Gly	rs1380367906	missense variant	-	NC_000005.10:g.37107747T>C	gnomAD
CPLANE1	Q9H799	p.Glu3150Ter	rs1317390469	stop gained	-	NC_000005.10:g.37107748C>A	gnomAD
CPLANE1	Q9H799	p.Val3155Met	rs1392607136	missense variant	-	NC_000005.10:g.37107733C>T	gnomAD
CPLANE1	Q9H799	p.Gly3157Ser	rs750657907	missense variant	-	NC_000005.10:g.37107727C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3157Asp	rs1353383169	missense variant	-	NC_000005.10:g.37107726C>T	gnomAD
CPLANE1	Q9H799	p.Val3158Met	rs1278842470	missense variant	-	NC_000005.10:g.37107724C>T	TOPMed
CPLANE1	Q9H799	p.Val3158Ter	RCV000368416	frameshift	Joubert syndrome 17 (JBTS17)	NC_000005.10:g.37107725dup	ClinVar
CPLANE1	Q9H799	p.Val3161Met	rs757393817	missense variant	-	NC_000005.10:g.37107715C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Gly3166Val	rs868031510	missense variant	-	NC_000005.10:g.37107699C>A	gnomAD
CPLANE1	Q9H799	p.Gly3166Cys	rs1445678153	missense variant	-	NC_000005.10:g.37107700C>A	gnomAD
CPLANE1	Q9H799	p.Gly3166Asp	rs868031510	missense variant	-	NC_000005.10:g.37107699C>T	gnomAD
CPLANE1	Q9H799	p.Lys3171Arg	rs1230624615	missense variant	-	NC_000005.10:g.37107684T>C	gnomAD
CPLANE1	Q9H799	p.Lys3171Glu	rs762932228	missense variant	-	NC_000005.10:g.37107685T>C	ExAC,gnomAD
CPLANE1	Q9H799	p.Asp3173Tyr	rs374776325	missense variant	-	NC_000005.10:g.37107679C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Trp3174Ter	rs759178721	stop gained	-	NC_000005.10:g.37107674C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Trp3174Arg	rs577380148	missense variant	-	NC_000005.10:g.37107676A>G	1000Genomes
CPLANE1	Q9H799	p.Trp3174Cys	rs759178721	missense variant	-	NC_000005.10:g.37107674C>G	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala3176Ser	rs1421414177	missense variant	-	NC_000005.10:g.37107670C>A	TOPMed
CPLANE1	Q9H799	p.Ala3176Ser	RCV000537824	missense variant	Orofaciodigital syndrome 6 (OFD6)	NC_000005.10:g.37107670C>A	ClinVar
CPLANE1	Q9H799	p.Ile3177Met	rs1332636319	missense variant	-	NC_000005.10:g.37107665G>C	TOPMed,gnomAD
CPLANE1	Q9H799	p.Ile3177Val	rs1004303690	missense variant	-	NC_000005.10:g.37107667T>C	TOPMed
CPLANE1	Q9H799	p.Glu3178Lys	rs372215544	missense variant	-	NC_000005.10:g.37107664C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met3180Val	rs770395082	missense variant	-	NC_000005.10:g.37107658T>C	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Met3180Leu	rs770395082	missense variant	-	NC_000005.10:g.37107658T>A	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Val3181Glu	rs760144874	missense variant	-	NC_000005.10:g.37107654A>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ala3182Thr	rs772662201	missense variant	-	NC_000005.10:g.37107652C>T	ExAC,gnomAD
CPLANE1	Q9H799	p.Ser3183Gly	rs769165676	missense variant	-	NC_000005.10:g.37107649T>C	ExAC
CPLANE1	Q9H799	p.Val3184Met	rs780349375	missense variant	-	NC_000005.10:g.37107646C>T	ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Glu3185Gly	rs1280596879	missense variant	-	NC_000005.10:g.37107642T>C	TOPMed
CPLANE1	Q9H799	p.Ser3190Ala	rs368852403	missense variant	-	NC_000005.10:g.37107628A>C	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ser3190Cys	rs781448726	missense variant	-	NC_000005.10:g.37107627G>C	ExAC
CPLANE1	Q9H799	p.Ser3190Phe	rs781448726	missense variant	-	NC_000005.10:g.37107627G>A	ExAC
CPLANE1	Q9H799	p.Ser3190Pro	rs368852403	missense variant	-	NC_000005.10:g.37107628A>G	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala3194Thr	rs375441199	missense variant	-	NC_000005.10:g.37107616C>T	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ala3194Ser	rs375441199	missense variant	-	NC_000005.10:g.37107616C>A	ESP,ExAC,TOPMed,gnomAD
CPLANE1	Q9H799	p.Ter3198Gln	rs1267447258	stop lost	-	NC_000005.10:g.37107604A>G	gnomAD
BCO1	Q9HAY6	p.Ile3Val	rs770370906	missense variant	-	NC_000016.10:g.81238915A>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile4Met	rs1311564026	missense variant	-	NC_000016.10:g.81238920A>G	gnomAD
BCO1	Q9HAY6	p.Ile4Leu	rs1457447196	missense variant	-	NC_000016.10:g.81238918A>C	TOPMed
BCO1	Q9HAY6	p.Gly6Asp	rs764350135	missense variant	-	NC_000016.10:g.81238925G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Gly6Ser	rs763179209	missense variant	-	NC_000016.10:g.81238924G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Asn8Lys	rs746577332	missense variant	-	NC_000016.10:g.81238932T>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg9Ser	rs770468926	missense variant	-	NC_000016.10:g.81238935G>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg9Lys	rs1264701868	missense variant	-	NC_000016.10:g.81238934G>A	TOPMed
BCO1	Q9HAY6	p.Arg9Gly	rs1458057207	missense variant	-	NC_000016.10:g.81238933A>G	TOPMed
BCO1	Q9HAY6	p.Gln12Ter	rs756003443	stop gained	-	NC_000016.10:g.81238942C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Glu14Gly	rs142824860	missense variant	-	NC_000016.10:g.81238949A>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu14Lys	rs928179301	missense variant	-	NC_000016.10:g.81238948G>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu14Gln	rs928179301	missense variant	-	NC_000016.10:g.81238948G>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Pro15Ala	rs1460850828	missense variant	-	NC_000016.10:g.81238951C>G	gnomAD
BCO1	Q9HAY6	p.Pro15Ser	rs1460850828	missense variant	-	NC_000016.10:g.81238951C>T	gnomAD
BCO1	Q9HAY6	p.Pro15Leu	rs1167537614	missense variant	-	NC_000016.10:g.81238952C>T	gnomAD
BCO1	Q9HAY6	p.Arg17Ser	rs1406202429	missense variant	-	NC_000016.10:g.81238959G>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala18Val	rs146092611	missense variant	-	NC_000016.10:g.81238961C>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys19Ile	rs1366749587	missense variant	-	NC_000016.10:g.81238964A>T	gnomAD
BCO1	Q9HAY6	p.Val20Leu	rs747820378	missense variant	-	NC_000016.10:g.81238966G>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr21Arg	rs758117162	missense variant	-	NC_000016.10:g.81238970C>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile24Thr	rs759437372	missense variant	-	NC_000016.10:g.81245481T>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Trp27Arg	rs752187886	missense variant	-	NC_000016.10:g.81245489T>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Trp27Ter	COSM704644	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.81245490G>A	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Gly30Glu	COSM3512696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81245499G>A	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Thr31Ile	rs372051322	missense variant	-	NC_000016.10:g.81245502C>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Leu32Val	rs756913044	missense variant	-	NC_000016.10:g.81245504C>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Leu33Phe	rs780538586	missense variant	-	NC_000016.10:g.81245507C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Arg34Cys	rs201320081	missense variant	-	NC_000016.10:g.81245510C>T	NCI-TCGA,NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Arg34His	rs755530410	missense variant	-	NC_000016.10:g.81245511G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg34Cys	rs201320081	missense variant	-	NC_000016.10:g.81245510C>T	1000Genomes,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg34Leu	rs755530410	missense variant	-	NC_000016.10:g.81245511G>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asn35Ser	rs905894692	missense variant	-	NC_000016.10:g.81245514A>G	TOPMed
BCO1	Q9HAY6	p.Gly36Arg	rs772224825	missense variant	-	NC_000016.10:g.81245516G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly38Ala	rs1425595008	missense variant	-	NC_000016.10:g.81245523G>C	gnomAD
BCO1	Q9HAY6	p.Met39Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81245527G>A	NCI-TCGA
BCO1	Q9HAY6	p.Val42Phe	rs777809771	missense variant	-	NC_000016.10:g.81245534G>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Val42Ala	rs747232099	missense variant	-	NC_000016.10:g.81245535T>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu44Asp	rs896361256	missense variant	-	NC_000016.10:g.81245542G>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser45Tyr	rs1333266032	missense variant	-	NC_000016.10:g.81245544C>A	gnomAD
BCO1	Q9HAY6	p.Arg46Lys	rs1386307274	missense variant	-	NC_000016.10:g.81245547G>A	gnomAD
BCO1	Q9HAY6	p.Tyr47His	rs1296317671	missense variant	-	NC_000016.10:g.81245549T>C	gnomAD
BCO1	Q9HAY6	p.Asn48Lys	rs1367983747	missense variant	-	NC_000016.10:g.81245554C>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Asn48Lys	rs1367983747	missense variant	-	NC_000016.10:g.81245554C>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Asn48His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81245552A>C	NCI-TCGA
BCO1	Q9HAY6	p.His49Tyr	rs1269479360	missense variant	-	NC_000016.10:g.81245555C>T	TOPMed
BCO1	Q9HAY6	p.His49Arg	rs1358740191	missense variant	-	NC_000016.10:g.81245556A>G	gnomAD
BCO1	Q9HAY6	p.Trp50Ter	rs771181325	stop gained	-	NC_000016.10:g.81245559G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Trp50Leu	rs771181325	missense variant	-	NC_000016.10:g.81245559G>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Phe51Leu	rs776403869	missense variant	-	NC_000016.10:g.81245563C>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Phe51Leu	rs776403869	missense variant	-	NC_000016.10:g.81245563C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp52Asn	rs775406463	missense variant	-	NC_000016.10:g.81245564G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly53Val	rs371593751	missense variant	-	NC_000016.10:g.81245568G>T	ESP
BCO1	Q9HAY6	p.Gly53Ser	rs1284429525	missense variant	-	NC_000016.10:g.81245567G>A	gnomAD
BCO1	Q9HAY6	p.Gly53Val	rs371593751	missense variant	-	NC_000016.10:g.81245568G>T	NCI-TCGA
BCO1	Q9HAY6	p.Leu56Val	rs970446615	missense variant	-	NC_000016.10:g.81245576C>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr61Ser	rs761525134	missense variant	-	NC_000016.10:g.81245591A>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Ile62Phe	rs767339497	missense variant	-	NC_000016.10:g.81245594A>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Arg63Ter	rs1199541366	stop gained	-	NC_000016.10:g.81245597A>T	gnomAD
BCO1	Q9HAY6	p.Arg63Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81245598G>C	NCI-TCGA
BCO1	Q9HAY6	p.Asp64Val	COSM6145339	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81245601A>T	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Gly65Asp	rs779898920	missense variant	-	NC_000016.10:g.81259676G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Gly65Ser	rs201365652	missense variant	-	NC_000016.10:g.81245603G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu66Ter	rs749097919	stop gained	-	NC_000016.10:g.81259678G>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu66Lys	rs749097919	missense variant	-	NC_000016.10:g.81259678G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val67Ala	rs1230406249	missense variant	-	NC_000016.10:g.81259682T>C	gnomAD
BCO1	Q9HAY6	p.Tyr68Cys	rs1310951145	missense variant	-	NC_000016.10:g.81259685A>G	gnomAD
BCO1	Q9HAY6	p.Tyr69Asp	COSM1318551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81259687T>G	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Arg70Gly	rs747623587	missense variant	-	NC_000016.10:g.81259690A>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg70Ser	rs771730557	missense variant	-	NC_000016.10:g.81259692G>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg70Trp	rs747623587	missense variant	-	NC_000016.10:g.81259690A>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg75Lys	rs909766540	missense variant	-	NC_000016.10:g.81259706G>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg75Thr	rs909766540	missense variant	-	NC_000016.10:g.81259706G>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser76Arg	rs370221081	missense variant	-	NC_000016.10:g.81259710C>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser76Arg	rs370221081	missense variant	-	NC_000016.10:g.81259710C>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser76Gly	rs1474257186	missense variant	-	NC_000016.10:g.81259708A>G	TOPMed
BCO1	Q9HAY6	p.Asp77Gly	rs1206529401	missense variant	-	NC_000016.10:g.81259712A>G	gnomAD
BCO1	Q9HAY6	p.Asp77Tyr	rs200423956	missense variant	-	NC_000016.10:g.81259711G>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp77Asn	rs200423956	missense variant	-	NC_000016.10:g.81259711G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp77His	rs200423956	missense variant	-	NC_000016.10:g.81259711G>C	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp77Val	rs1206529401	missense variant	-	NC_000016.10:g.81259712A>T	gnomAD
BCO1	Q9HAY6	p.Thr78Ser	rs764591988	missense variant	-	NC_000016.10:g.81259715C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Asn80Thr	rs1184407934	missense variant	-	NC_000016.10:g.81259721A>C	gnomAD
BCO1	Q9HAY6	p.Thr81Ile	rs767559657	missense variant	-	NC_000016.10:g.81259724C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Thr81Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81259723A>G	NCI-TCGA
BCO1	Q9HAY6	p.Asn82Ser	rs750572177	missense variant	-	NC_000016.10:g.81259727A>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asn82Ile	rs750572177	missense variant	-	NC_000016.10:g.81259727A>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile83Thr	rs1319211402	missense variant	-	NC_000016.10:g.81259730T>C	gnomAD
BCO1	Q9HAY6	p.Ile83Val	rs756317602	missense variant	-	NC_000016.10:g.81259729A>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Asn86Lys	rs141547242	missense variant	-	NC_000016.10:g.81259740C>G	1000Genomes,ExAC,gnomAD
BCO1	Q9HAY6	p.Arg87Lys	rs199858016	missense variant	-	NC_000016.10:g.81259742G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile88Thr	rs1280370472	missense variant	-	NC_000016.10:g.81259745T>C	TOPMed
BCO1	Q9HAY6	p.Val89Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81259748T>C	NCI-TCGA
BCO1	Q9HAY6	p.Val90Leu	rs1279643052	missense variant	-	NC_000016.10:g.81259750G>T	gnomAD
BCO1	Q9HAY6	p.Ser91Tyr	rs1247368705	missense variant	-	NC_000016.10:g.81259754C>A	gnomAD
BCO1	Q9HAY6	p.Glu92Asp	rs1374640322	missense variant	-	NC_000016.10:g.81259758G>C	TOPMed
BCO1	Q9HAY6	p.Phe93Ser	rs778862007	missense variant	-	NC_000016.10:g.81259760T>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Thr95Lys	rs748077462	missense variant	-	NC_000016.10:g.81259766C>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Thr95Arg	rs748077462	missense variant	-	NC_000016.10:g.81259766C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Met96Leu	rs772176060	missense variant	-	NC_000016.10:g.81259768A>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Met96Thr	rs777417161	missense variant	-	NC_000016.10:g.81259769T>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Pro99Leu	rs746573315	missense variant	-	NC_000016.10:g.81259778C>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Pro99Gln	rs746573315	missense variant	-	NC_000016.10:g.81259778C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp100Glu	rs1440916483	missense variant	-	NC_000016.10:g.81259782C>A	gnomAD
BCO1	Q9HAY6	p.Cys102Tyr	rs1187173943	missense variant	-	NC_000016.10:g.81259787G>A	gnomAD
BCO1	Q9HAY6	p.Lys103Arg	rs776149387	missense variant	-	NC_000016.10:g.81259790A>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Ile105Val	rs895983618	missense variant	-	NC_000016.10:g.81259795A>G	TOPMed
BCO1	Q9HAY6	p.Ile105Met	rs1473634579	missense variant	-	NC_000016.10:g.81259797A>G	gnomAD
BCO1	Q9HAY6	p.Phe106Val	rs1013066076	missense variant	-	NC_000016.10:g.81259798T>G	TOPMed
BCO1	Q9HAY6	p.Ser107GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.81259795_81259796AT>-	NCI-TCGA
BCO1	Q9HAY6	p.Ser107Phe	COSM1709458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81259802C>T	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Ala109Asp	rs199710262	missense variant	-	NC_000016.10:g.81262138C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala109Gly	rs199710262	missense variant	-	NC_000016.10:g.81262138C>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr112Ser	rs766347639	missense variant	-	NC_000016.10:g.81262147A>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Leu113Phe	rs1475121526	missense variant	-	NC_000016.10:g.81262151G>C	TOPMed
BCO1	Q9HAY6	p.Ser114Cys	rs776813359	missense variant	-	NC_000016.10:g.81262153C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.His115Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81262155C>G	NCI-TCGA
BCO1	Q9HAY6	p.Pro118Ser	rs752480679	missense variant	-	NC_000016.10:g.81262164C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Pro118Thr	rs752480679	missense variant	-	NC_000016.10:g.81262164C>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Pro118Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81262165C>T	NCI-TCGA
BCO1	Q9HAY6	p.Asp119Asn	rs764080372	missense variant	-	NC_000016.10:g.81262167G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Asp119Tyr	rs764080372	missense variant	-	NC_000016.10:g.81262167G>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Asp119His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81262167G>C	NCI-TCGA
BCO1	Q9HAY6	p.Phe120Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81262170T>G	NCI-TCGA
BCO1	Q9HAY6	p.Thr121Ala	rs912504653	missense variant	-	NC_000016.10:g.81262173A>G	gnomAD
BCO1	Q9HAY6	p.Asp122Asn	rs780533156	missense variant	-	NC_000016.10:g.81262176G>A	ExAC
BCO1	Q9HAY6	p.Asp122Gly	rs373346551	missense variant	-	NC_000016.10:g.81262177A>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile126Thr	rs376471797	missense variant	-	NC_000016.10:g.81262189T>C	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile128Val	rs867803292	missense variant	-	NC_000016.10:g.81262194A>G	TOPMed
BCO1	Q9HAY6	p.Ile128Leu	rs867803292	missense variant	-	NC_000016.10:g.81262194A>C	TOPMed
BCO1	Q9HAY6	p.Met129Val	rs1297196024	missense variant	-	NC_000016.10:g.81262197A>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys130Thr	rs886153068	missense variant	-	NC_000016.10:g.81262201A>C	TOPMed
BCO1	Q9HAY6	p.Gly132Arg	rs772450083	missense variant	-	NC_000016.10:g.81262206G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly132Glu	rs746790957	missense variant	-	NC_000016.10:g.81262207G>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu133Lys	rs1209690264	missense variant	-	NC_000016.10:g.81262209G>A	gnomAD
BCO1	Q9HAY6	p.Phe135Val	rs773618146	missense variant	-	NC_000016.10:g.81262215T>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Tyr136Ter	rs199834539	stop gained	-	NC_000016.10:g.81262220C>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr136Ter	rs199834539	stop gained	-	NC_000016.10:g.81262220C>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr136His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81262218T>C	NCI-TCGA
BCO1	Q9HAY6	p.Ala137Pro	rs1046638346	missense variant	-	NC_000016.10:g.81262221G>C	TOPMed
BCO1	Q9HAY6	p.Ala137Val	rs200428274	missense variant	-	NC_000016.10:g.81262222C>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala137Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81262221G>A	NCI-TCGA
BCO1	Q9HAY6	p.Thr138Ala	rs370376971	missense variant	-	NC_000016.10:g.81262224A>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr141Ser	rs765487181	missense variant	-	NC_000016.10:g.81262233A>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Tyr143His	rs775884304	missense variant	-	NC_000016.10:g.81262239T>C	ExAC
BCO1	Q9HAY6	p.Ile144Val	rs201662228	missense variant	-	NC_000016.10:g.81262242A>G	1000Genomes,ExAC,gnomAD
BCO1	Q9HAY6	p.Lys146Asn	rs1386145787	missense variant	-	NC_000016.10:g.81262250A>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile147Met	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81262253C>G	NCI-TCGA
BCO1	Q9HAY6	p.Leu152Val	rs1434161074	missense variant	-	NC_000016.10:g.81262266C>G	gnomAD
BCO1	Q9HAY6	p.Glu153Lys	rs866662767	missense variant	-	NC_000016.10:g.81262269G>A	-
BCO1	Q9HAY6	p.Glu153Ala	rs751408559	missense variant	-	NC_000016.10:g.81262270A>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr154Ile	rs757134025	missense variant	-	NC_000016.10:g.81262273C>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu156Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81262280G>T	NCI-TCGA
BCO1	Q9HAY6	p.Lys157Ter	rs1203590205	stop gained	-	NC_000016.10:g.81262281A>T	TOPMed
BCO1	Q9HAY6	p.Val158Ile	rs1395125401	missense variant	-	NC_000016.10:g.81264640G>A	TOPMed
BCO1	Q9HAY6	p.Asp159Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81264645T>G	NCI-TCGA
BCO1	Q9HAY6	p.Tyr160Phe	rs1277432334	missense variant	-	NC_000016.10:g.81264647A>T	gnomAD
BCO1	Q9HAY6	p.Arg161Cys	rs147813781	missense variant	-	NC_000016.10:g.81264649C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg161His	rs568154975	missense variant	-	NC_000016.10:g.81264650G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val164Met	rs764757293	missense variant	-	NC_000016.10:g.81264658G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala165Val	rs148919906	missense variant	-	NC_000016.10:g.81264662C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val166Ile	rs139667928	missense variant	-	NC_000016.10:g.81264664G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asn167Ser	rs1190411487	missense variant	-	NC_000016.10:g.81264668A>G	gnomAD
BCO1	Q9HAY6	p.Ala169Gly	rs145127976	missense variant	-	NC_000016.10:g.81264674C>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala169Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81264674C>T	NCI-TCGA
BCO1	Q9HAY6	p.Thr170Met	RCV000005038	missense variant	Hypercarotenemia and vitamin a deficiency, autosomal dominant (HCVAD)	NC_000016.10:g.81264677C>T	ClinVar
BCO1	Q9HAY6	p.Thr170Pro	rs1170790963	missense variant	-	NC_000016.10:g.81264676A>C	gnomAD
BCO1	Q9HAY6	p.Thr170Met	rs119478057	missense variant	-	NC_000016.10:g.81264677C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr170Lys	rs119478057	missense variant	-	NC_000016.10:g.81264677C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.His172Arg	rs1324730047	missense variant	-	NC_000016.10:g.81264683A>G	gnomAD
BCO1	Q9HAY6	p.His174Arg	rs1347406661	missense variant	-	NC_000016.10:g.81264689A>G	TOPMed
BCO1	Q9HAY6	p.Tyr175Phe	rs778912655	missense variant	-	NC_000016.10:g.81264692A>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp176Glu	rs143043516	missense variant	-	NC_000016.10:g.81264696T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala178Pro	rs536329686	missense variant	-	NC_000016.10:g.81264700G>C	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala178Gly	rs371846416	missense variant	-	NC_000016.10:g.81264701C>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala178Val	rs371846416	missense variant	-	NC_000016.10:g.81264701C>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly179Arg	rs770786848	missense variant	-	NC_000016.10:g.81264703G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Asn180Ser	rs1373235925	missense variant	-	NC_000016.10:g.81264707A>G	TOPMed
BCO1	Q9HAY6	p.Val181Ile	rs776579175	missense variant	-	NC_000016.10:g.81264709G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val181Leu	rs776579175	missense variant	-	NC_000016.10:g.81264709G>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly185Val	rs1248403052	missense variant	-	NC_000016.10:g.81264722G>T	gnomAD
BCO1	Q9HAY6	p.Thr186Ile	rs774899787	missense variant	-	NC_000016.10:g.81264725C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Ser187Phe	rs762658812	missense variant	-	NC_000016.10:g.81264728C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Ser187Tyr	rs762658812	missense variant	-	NC_000016.10:g.81264728C>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Ser187Cys	rs762658812	missense variant	-	NC_000016.10:g.81264728C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Ser187Ala	rs1190728999	missense variant	-	NC_000016.10:g.81264727T>G	gnomAD
BCO1	Q9HAY6	p.Ile188Leu	rs750755364	missense variant	-	NC_000016.10:g.81264730A>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Glu190Lys	rs151149493	missense variant	-	NC_000016.10:g.81264736G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys191Asn	rs1427194741	missense variant	-	NC_000016.10:g.81264741G>C	TOPMed
BCO1	Q9HAY6	p.Lys191ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.81264737A>-	NCI-TCGA
BCO1	Q9HAY6	p.Lys193Ter	rs1264545464	stop gained	-	NC_000016.10:g.81264745A>T	TOPMed
BCO1	Q9HAY6	p.Lys195Gln	rs1404084100	missense variant	-	NC_000016.10:g.81264751A>C	gnomAD
BCO1	Q9HAY6	p.Lys195Asn	rs145899743	missense variant	-	NC_000016.10:g.81264753G>C	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys195Arg	rs1325908245	missense variant	-	NC_000016.10:g.81264752A>G	gnomAD
BCO1	Q9HAY6	p.Lys195ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.81264751_81264752insCGAT	NCI-TCGA
BCO1	Q9HAY6	p.Lys195Asn	COSM704643	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81264753G>T	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Tyr196ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.81264753_81264754insCCACAGAAGCACACCAGCTCCCTAAC	NCI-TCGA
BCO1	Q9HAY6	p.Val197Met	rs779046372	missense variant	-	NC_000016.10:g.81264757G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Val197Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81264758T>A	NCI-TCGA
BCO1	Q9HAY6	p.Ile198Leu	rs748236344	missense variant	-	NC_000016.10:g.81264760A>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys200Glu	rs113894835	missense variant	-	NC_000016.10:g.81264766A>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile201Thr	rs746764244	missense variant	-	NC_000016.10:g.81264770T>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Pro202Ser	rs776458742	missense variant	-	NC_000016.10:g.81264772C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Ala203Val	rs1450570614	missense variant	-	NC_000016.10:g.81264776C>T	gnomAD
BCO1	Q9HAY6	p.Thr204Ile	rs1466049907	missense variant	-	NC_000016.10:g.81264779C>T	gnomAD
BCO1	Q9HAY6	p.Pro206Ala	rs200324875	missense variant	-	NC_000016.10:g.81264784C>G	1000Genomes,TOPMed,gnomAD
BCO1	Q9HAY6	p.Pro206Ser	rs200324875	missense variant	-	NC_000016.10:g.81264784C>T	1000Genomes,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu207Gln	rs769682221	missense variant	-	NC_000016.10:g.81264787G>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys209Glu	rs370084672	missense variant	-	NC_000016.10:g.81267913A>G	ESP,ExAC,gnomAD
BCO1	Q9HAY6	p.Lys209Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81267915G>T	NCI-TCGA
BCO1	Q9HAY6	p.Gly212Arg	rs1235177386	missense variant	-	NC_000016.10:g.81267922G>C	gnomAD
BCO1	Q9HAY6	p.Gly212Val	rs531421974	missense variant	-	NC_000016.10:g.81267923G>T	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys213Arg	rs1210503777	missense variant	-	NC_000016.10:g.81267926A>G	gnomAD
BCO1	Q9HAY6	p.Trp216Ter	rs753165872	stop gained	-	NC_000016.10:g.81267935G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Thr219Arg	rs1044944025	missense variant	-	NC_000016.10:g.81267944C>G	TOPMed
BCO1	Q9HAY6	p.Glu220Gln	rs368008947	missense variant	-	NC_000016.10:g.81267946G>C	ESP,ExAC,gnomAD
BCO1	Q9HAY6	p.Glu220Lys	rs368008947	missense variant	-	NC_000016.10:g.81267946G>A	ESP,ExAC,gnomAD
BCO1	Q9HAY6	p.Glu220Ter	rs368008947	stop gained	-	NC_000016.10:g.81267946G>T	ESP,ExAC,gnomAD
BCO1	Q9HAY6	p.Val221Glu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81267950T>A	NCI-TCGA
BCO1	Q9HAY6	p.Phe222Leu	rs1250460901	missense variant	-	NC_000016.10:g.81267954C>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Phe222Leu	rs1250460901	missense variant	-	NC_000016.10:g.81267954C>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Phe222Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81267952T>C	NCI-TCGA
BCO1	Q9HAY6	p.Cys223Phe	rs764128777	missense variant	-	NC_000016.10:g.81267956G>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Cys223Ser	rs764128777	missense variant	-	NC_000016.10:g.81267956G>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Cys223Tyr	rs764128777	missense variant	-	NC_000016.10:g.81267956G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile225Met	rs1179096219	missense variant	-	NC_000016.10:g.81267963C>G	TOPMed
BCO1	Q9HAY6	p.Pro226Leu	rs781402582	missense variant	-	NC_000016.10:g.81267965C>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser227Cys	rs562843128	missense variant	-	NC_000016.10:g.81267968C>G	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg228His	rs747676129	missense variant	-	NC_000016.10:g.81267971G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg228Cys	rs143003259	missense variant	-	NC_000016.10:g.81267970C>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg228Ser	rs143003259	missense variant	-	NC_000016.10:g.81267970C>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Leu230Gln	rs200091655	missense variant	-	NC_000016.10:g.81267977T>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Leu231Phe	rs145049631	missense variant	-	NC_000016.10:g.81267979C>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Leu231Val	rs145049631	missense variant	-	NC_000016.10:g.81267979C>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Pro233Thr	rs138840753	missense variant	-	NC_000016.10:g.81267985C>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Pro233Ser	rs138840753	missense variant	-	NC_000016.10:g.81267985C>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser234Gly	rs1343356033	missense variant	-	NC_000016.10:g.81267988A>G	TOPMed
BCO1	Q9HAY6	p.Tyr235Cys	rs1009686915	missense variant	-	NC_000016.10:g.81267992A>G	gnomAD
BCO1	Q9HAY6	p.Tyr236Ser	rs34746358	missense variant	-	NC_000016.10:g.81267995A>C	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr236Asp	rs1304779014	missense variant	-	NC_000016.10:g.81267994T>G	TOPMed
BCO1	Q9HAY6	p.His237Arg	rs1212213618	missense variant	-	NC_000016.10:g.81267998A>G	gnomAD
BCO1	Q9HAY6	p.Ser238Asn	rs761882293	missense variant	-	NC_000016.10:g.81268001G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Gly240Ter	rs1188782826	stop gained	-	NC_000016.10:g.81268006G>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly240Val	rs149344514	missense variant	-	NC_000016.10:g.81268007G>T	ESP,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val241Ile	rs373571833	missense variant	-	NC_000016.10:g.81268009G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val241Leu	rs373571833	missense variant	-	NC_000016.10:g.81268009G>C	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val241Phe	rs373571833	missense variant	-	NC_000016.10:g.81268009G>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu243Asp	rs1459373189	missense variant	-	NC_000016.10:g.81268017G>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu243Lys	rs766086270	missense variant	-	NC_000016.10:g.81268015G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu243Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81268017G>T	NCI-TCGA
BCO1	Q9HAY6	p.Tyr245His	rs753728650	missense variant	-	NC_000016.10:g.81268021T>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr245Ser	rs1029390527	missense variant	-	NC_000016.10:g.81268022A>C	TOPMed
BCO1	Q9HAY6	p.Val246Leu	rs1435569117	missense variant	-	NC_000016.10:g.81268024G>C	gnomAD
BCO1	Q9HAY6	p.Ile247Phe	rs754905093	missense variant	-	NC_000016.10:g.81268027A>T	ExAC
BCO1	Q9HAY6	p.Leu249Phe	rs1321416885	missense variant	-	NC_000016.10:g.81268033C>T	gnomAD
BCO1	Q9HAY6	p.Gln251Glu	rs747623490	missense variant	-	NC_000016.10:g.81268039C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Gln251His	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81268041G>C	NCI-TCGA
BCO1	Q9HAY6	p.Pro252Arg	rs758003404	missense variant	-	NC_000016.10:g.81268043C>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp256Tyr	rs746609569	missense variant	-	NC_000016.10:g.81268054G>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp256Asn	rs746609569	missense variant	-	NC_000016.10:g.81268054G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile257Val	rs770683611	missense variant	-	NC_000016.10:g.81268057A>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Lys259Met	COSM1479126	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81268064A>T	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Met260Leu	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81268066A>C	NCI-TCGA
BCO1	Q9HAY6	p.Ala261Val	rs775699758	missense variant	-	NC_000016.10:g.81268070C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Ala261Thr	COSM974083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81268069G>A	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Ala263Thr	rs373952238	missense variant	-	NC_000016.10:g.81268075G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr264Ser	rs762358911	missense variant	-	NC_000016.10:g.81268079A>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Arg266Gln	rs142844835	missense variant	-	NC_000016.10:g.81268085G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg266Trp	rs148510879	missense variant	-	NC_000016.10:g.81268084C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg267Ser	rs12934922	missense variant	-	NC_000016.10:g.81268089A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg267Lys	rs1425087165	missense variant	-	NC_000016.10:g.81268088G>A	gnomAD
BCO1	Q9HAY6	p.Arg267Ser	rs12934922	missense variant	-	NC_000016.10:g.81268089A>T	UniProt,dbSNP
BCO1	Q9HAY6	p.Arg267Ser	VAR_048406	missense variant	-	NC_000016.10:g.81268089A>T	UniProt
BCO1	Q9HAY6	p.Trp270Cys	rs1417118834	missense variant	-	NC_000016.10:g.81268098G>C	gnomAD
BCO1	Q9HAY6	p.Trp270Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81268096T>C	NCI-TCGA
BCO1	Q9HAY6	p.Ala271Val	rs1437222620	missense variant	-	NC_000016.10:g.81268100C>T	TOPMed
BCO1	Q9HAY6	p.Ser272Phe	rs1161119082	missense variant	-	NC_000016.10:g.81268103C>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.Cys273Trp	rs754852032	missense variant	-	NC_000016.10:g.81268107C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Cys273Tyr	rs1335545819	missense variant	-	NC_000016.10:g.81268106G>A	TOPMed
BCO1	Q9HAY6	p.Leu274Val	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81268108C>G	NCI-TCGA
BCO1	Q9HAY6	p.Ala275Val	rs758449542	missense variant	-	NC_000016.10:g.81268112C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Ala275Ser	rs752658399	missense variant	-	NC_000016.10:g.81268111G>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala275Asp	rs758449542	missense variant	-	NC_000016.10:g.81268112C>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Ala275Thr	rs752658399	missense variant	-	NC_000016.10:g.81268111G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Phe276Leu	rs777142346	missense variant	-	NC_000016.10:g.81268116C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Arg278Gly	rs1270405772	missense variant	-	NC_000016.10:g.81268120A>G	gnomAD
BCO1	Q9HAY6	p.Glu280Lys	rs1315544963	missense variant	-	NC_000016.10:g.81268126G>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys281Asn	rs1256247702	missense variant	-	NC_000016.10:g.81268131G>T	gnomAD
BCO1	Q9HAY6	p.Lys281Asn	rs1256247702	missense variant	-	NC_000016.10:g.81268131G>C	gnomAD
BCO1	Q9HAY6	p.Tyr283Cys	rs1465380813	missense variant	-	NC_000016.10:g.81270163A>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr283Ter	COSM435829	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.81270164T>A	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Ile284Val	rs371894990	missense variant	-	NC_000016.10:g.81270165A>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.His285Arg	rs1417922546	missense variant	-	NC_000016.10:g.81270169A>G	TOPMed
BCO1	Q9HAY6	p.His285Tyr	rs911831366	missense variant	-	NC_000016.10:g.81270168C>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.His285Asp	rs911831366	missense variant	-	NC_000016.10:g.81270168C>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile286Val	rs1231587352	missense variant	-	NC_000016.10:g.81270171A>G	gnomAD
BCO1	Q9HAY6	p.Ile287Met	rs747012263	missense variant	-	NC_000016.10:g.81270176C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Asp288Glu	rs373911986	missense variant	-	NC_000016.10:g.81270179C>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp288Ala	rs776889148	missense variant	-	NC_000016.10:g.81270178A>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Asp288Asn	rs139655280	missense variant	-	NC_000016.10:g.81270177G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gln289Glu	rs145265153	missense variant	-	NC_000016.10:g.81270180C>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg290Lys	rs1222272747	missense variant	-	NC_000016.10:g.81270184G>A	gnomAD
BCO1	Q9HAY6	p.Arg292Lys	rs1271451898	missense variant	-	NC_000016.10:g.81270190G>A	TOPMed
BCO1	Q9HAY6	p.Pro294Leu	rs763897086	missense variant	-	NC_000016.10:g.81270196C>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val295Met	rs751535643	missense variant	-	NC_000016.10:g.81270198G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Val295Ala	rs761703330	missense variant	-	NC_000016.10:g.81270199T>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Val295Leu	rs751535643	missense variant	-	NC_000016.10:g.81270198G>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Gln296Ter	rs1335199761	stop gained	-	NC_000016.10:g.81270201C>T	TOPMed
BCO1	Q9HAY6	p.Gln296His	rs767012049	missense variant	-	NC_000016.10:g.81270203G>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gln296Arg	rs1259994460	missense variant	-	NC_000016.10:g.81270202A>G	TOPMed
BCO1	Q9HAY6	p.Gln296His	rs767012049	missense variant	-	NC_000016.10:g.81270203G>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr297Ala	rs749993915	missense variant	-	NC_000016.10:g.81270204A>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Phe299Val	rs779685560	missense variant	-	NC_000016.10:g.81270210T>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Ala303Thr	rs758817028	missense variant	-	NC_000016.10:g.81270222G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Met304Ile	rs1365511380	missense variant	-	NC_000016.10:g.81270227G>C	gnomAD
BCO1	Q9HAY6	p.Met304Thr	rs1324721528	missense variant	-	NC_000016.10:g.81270226T>C	gnomAD
BCO1	Q9HAY6	p.Met304Ile	rs1365511380	missense variant	-	NC_000016.10:g.81270227G>T	gnomAD
BCO1	Q9HAY6	p.Phe307Leu	rs546502921	missense variant	-	NC_000016.10:g.81270236C>A	1000Genomes
BCO1	Q9HAY6	p.Phe307Ser	rs1368181098	missense variant	-	NC_000016.10:g.81270235T>C	TOPMed
BCO1	Q9HAY6	p.His308Asp	rs1327480490	missense variant	-	NC_000016.10:g.81270237C>G	TOPMed
BCO1	Q9HAY6	p.His309Asp	rs778051988	missense variant	-	NC_000016.10:g.81270240C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.His309Gln	rs139501868	missense variant	-	NC_000016.10:g.81270242C>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val310Ile	rs781405260	missense variant	-	NC_000016.10:g.81270243G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asn311Ile	rs1291958653	missense variant	-	NC_000016.10:g.81270247A>T	gnomAD
BCO1	Q9HAY6	p.Asn311Thr	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81270247A>C	NCI-TCGA
BCO1	Q9HAY6	p.Ala312Gly	rs149697391	missense variant	-	NC_000016.10:g.81270250C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala312Thr	rs770074943	missense variant	-	NC_000016.10:g.81270249G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr313Cys	rs1465495836	missense variant	-	NC_000016.10:g.81270253A>G	gnomAD
BCO1	Q9HAY6	p.Glu314Lys	rs535639302	missense variant	-	NC_000016.10:g.81270255G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp316Tyr	rs749961967	missense variant	-	NC_000016.10:g.81270261G>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Gly317Ser	rs767457543	missense variant	-	NC_000016.10:g.81270264G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Gly317Asp	rs145438816	missense variant	-	NC_000016.10:g.81270265G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Cys318Ser	rs957543256	missense variant	-	NC_000016.10:g.81270268G>C	TOPMed
BCO1	Q9HAY6	p.Cys318Tyr	rs957543256	missense variant	-	NC_000016.10:g.81270268G>A	TOPMed
BCO1	Q9HAY6	p.Val320Glu	rs1325297727	missense variant	-	NC_000016.10:g.81270274T>A	gnomAD
BCO1	Q9HAY6	p.Val320Met	rs570126506	missense variant	-	NC_000016.10:g.81270273G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val323Ile	rs148824103	missense variant	-	NC_000016.10:g.81270282G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile324Val	rs144501132	missense variant	-	NC_000016.10:g.81270285A>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile324Thr	rs141202792	missense variant	-	NC_000016.10:g.81270286T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu327Lys	rs572933939	missense variant	-	NC_000016.10:g.81270294G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp328Asn	rs1330029626	missense variant	-	NC_000016.10:g.81270297G>A	gnomAD
BCO1	Q9HAY6	p.Asn329Thr	rs77264642	missense variant	-	NC_000016.10:g.81270301A>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Asn329His	rs920475663	missense variant	-	NC_000016.10:g.81270300A>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Asn329Asp	rs920475663	missense variant	-	NC_000016.10:g.81270300A>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser330Arg	rs768820868	missense variant	-	NC_000016.10:g.81270305C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser330Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81270304G>T	NCI-TCGA
BCO1	Q9HAY6	p.Ser330Arg	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81270303A>C	NCI-TCGA
BCO1	Q9HAY6	p.Leu331Phe	rs774139831	missense variant	-	NC_000016.10:g.81270306C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Tyr332Cys	rs747900683	missense variant	-	NC_000016.10:g.81270310A>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Gln333Glu	rs1413149969	missense variant	-	NC_000016.10:g.81270312C>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Gln333Ter	rs1413149969	stop gained	-	NC_000016.10:g.81270312C>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.Leu334Val	rs773159889	missense variant	-	NC_000016.10:g.81270315C>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Phe335Ser	rs1414496200	missense variant	-	NC_000016.10:g.81270319T>C	gnomAD
BCO1	Q9HAY6	p.Phe335Leu	COSM1302279	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81270320C>G	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Tyr336Asn	rs1372676499	missense variant	-	NC_000016.10:g.81270321T>A	TOPMed
BCO1	Q9HAY6	p.Tyr336Ser	rs776073789	missense variant	-	NC_000016.10:g.81270322A>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr336Phe	rs776073789	missense variant	-	NC_000016.10:g.81270322A>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala338Val	rs1414090246	missense variant	-	NC_000016.10:g.81270328C>T	gnomAD
BCO1	Q9HAY6	p.Asn339Ser	COSM3512706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81270331A>G	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Asn341Lys	rs1288977521	missense variant	-	NC_000016.10:g.81270338C>G	gnomAD
BCO1	Q9HAY6	p.Gln342Glu	rs545815843	missense variant	-	NC_000016.10:g.81270339C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Asp343Asn	COSM3512707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81270342G>A	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Phe344Val	rs764808400	missense variant	-	NC_000016.10:g.81270345T>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Lys345Asn	rs375079645	missense variant	-	NC_000016.10:g.81270350G>C	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu346Lys	rs1187223890	missense variant	-	NC_000016.10:g.81270351G>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu346Gln	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81270351G>C	NCI-TCGA
BCO1	Q9HAY6	p.Asn347Ile	rs1282403809	missense variant	-	NC_000016.10:g.81270355A>T	TOPMed
BCO1	Q9HAY6	p.Arg349Gly	rs756724798	missense variant	-	NC_000016.10:g.81270360A>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg349Met	rs1484768355	missense variant	-	NC_000016.10:g.81270361G>T	gnomAD
BCO1	Q9HAY6	p.Leu350Phe	rs902862596	missense variant	-	NC_000016.10:g.81270363C>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr351Asn	rs749341872	missense variant	-	NC_000016.10:g.81270367C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser352Leu	rs1180140180	missense variant	-	NC_000016.10:g.81270370C>T	gnomAD
BCO1	Q9HAY6	p.Val353Phe	rs1478135186	missense variant	-	NC_000016.10:g.81270372G>T	gnomAD
BCO1	Q9HAY6	p.Pro354Leu	rs1392709380	missense variant	-	NC_000016.10:g.81270376C>T	gnomAD
BCO1	Q9HAY6	p.Pro354Ser	COSM3512709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81270375C>T	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Thr355Ala	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81270378A>G	NCI-TCGA
BCO1	Q9HAY6	p.Leu356Phe	rs267604656	missense variant	-	NC_000016.10:g.81270381C>T	gnomAD
BCO1	Q9HAY6	p.Leu356His	rs771835453	missense variant	-	NC_000016.10:g.81270382T>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Leu356Pro	rs771835453	missense variant	-	NC_000016.10:g.81270382T>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Leu356Ile	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81270381C>A	NCI-TCGA
BCO1	Q9HAY6	p.Arg357Ser	rs773033355	missense variant	-	NC_000016.10:g.81270386G>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Arg358Lys	rs746947911	missense variant	-	NC_000016.10:g.81270388G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val361Met	rs758970284	missense variant	-	NC_000016.10:g.81270396G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val361Ala	rs372190931	missense variant	-	NC_000016.10:g.81270397T>C	ESP,ExAC,gnomAD
BCO1	Q9HAY6	p.Val361Leu	rs758970284	missense variant	-	NC_000016.10:g.81270396G>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Leu363Phe	rs1345739402	missense variant	-	NC_000016.10:g.81270402C>T	gnomAD
BCO1	Q9HAY6	p.Leu363SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000016.10:g.81270399C>-	NCI-TCGA
BCO1	Q9HAY6	p.His364Asp	rs1252357610	missense variant	-	NC_000016.10:g.81270405C>G	gnomAD
BCO1	Q9HAY6	p.Val365Met	rs376838072	missense variant	-	NC_000016.10:g.81270408G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp366Gly	rs1250255265	missense variant	-	NC_000016.10:g.81270412A>G	gnomAD
BCO1	Q9HAY6	p.Asp366Asn	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81270411G>A	NCI-TCGA
BCO1	Q9HAY6	p.Lys367Thr	rs1008324951	missense variant	-	NC_000016.10:g.81270415A>C	TOPMed
BCO1	Q9HAY6	p.Lys367Arg	rs1008324951	missense variant	-	NC_000016.10:g.81270415A>G	TOPMed
BCO1	Q9HAY6	p.Asn368Lys	rs1198889098	missense variant	-	NC_000016.10:g.81280859T>A	gnomAD
BCO1	Q9HAY6	p.Ala369Gly	rs760132973	missense variant	-	NC_000016.10:g.81280861C>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Glu370Ala	rs765230331	missense variant	-	NC_000016.10:g.81280864A>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Glu370Gln	rs1379310235	missense variant	-	NC_000016.10:g.81280863G>C	gnomAD
BCO1	Q9HAY6	p.Val371Leu	rs375301674	missense variant	-	NC_000016.10:g.81280866G>T	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Val371Met	rs375301674	missense variant	-	NC_000016.10:g.81280866G>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr373Ala	rs140479675	missense variant	-	NC_000016.10:g.81280872A>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asn374His	rs777973552	missense variant	-	NC_000016.10:g.81280875A>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys377Asn	rs1419979074	missense variant	-	NC_000016.10:g.81280886A>C	TOPMed
BCO1	Q9HAY6	p.Lys377Arg	rs1459655694	missense variant	-	NC_000016.10:g.81280885A>G	TOPMed
BCO1	Q9HAY6	p.Lys377Ter	rs1356684176	stop gained	-	NC_000016.10:g.81280884A>T	gnomAD
BCO1	Q9HAY6	p.Ala379Val	rs7501331	missense variant	-	NC_000016.10:g.81280891C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala379Ser	rs751311880	missense variant	-	NC_000016.10:g.81280890G>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser380Cys	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81280894C>G	NCI-TCGA
BCO1	Q9HAY6	p.Thr381Ala	rs781089493	missense variant	-	NC_000016.10:g.81280896A>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr381Arg	rs888549373	missense variant	-	NC_000016.10:g.81280897C>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr382Ile	rs745761600	missense variant	-	NC_000016.10:g.81280900C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Thr382Ala	rs1262132285	missense variant	-	NC_000016.10:g.81280899A>G	gnomAD
BCO1	Q9HAY6	p.Thr384Met	rs779053226	missense variant	-	NC_000016.10:g.81280906C>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala385Asp	rs1476130491	missense variant	-	NC_000016.10:g.81280909C>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys387Ter	rs1185804692	stop gained	-	NC_000016.10:g.81280914A>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu388Lys	rs1277923022	missense variant	-	NC_000016.10:g.81280917G>A	TOPMed
BCO1	Q9HAY6	p.Glu389Gln	rs774169999	missense variant	-	NC_000016.10:g.81280920G>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gln392Glu	rs370178723	missense variant	-	NC_000016.10:g.81280929C>G	ESP,ExAC
BCO1	Q9HAY6	p.Val393Ala	rs1347211910	missense variant	-	NC_000016.10:g.81280933T>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr394His	rs1438472025	missense variant	-	NC_000016.10:g.81280935T>C	TOPMed
BCO1	Q9HAY6	p.Cys395Arg	rs771171844	missense variant	-	NC_000016.10:g.81280938T>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Cys395Ter	rs759949907	stop gained	-	NC_000016.10:g.81280940C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Cys395Gly	rs771171844	missense variant	-	NC_000016.10:g.81280938T>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Cys395Phe	rs777124692	missense variant	-	NC_000016.10:g.81280939G>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Glu398Asp	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81280949A>C	NCI-TCGA
BCO1	Q9HAY6	p.Phe399Cys	rs1405692032	missense variant	-	NC_000016.10:g.81280951T>G	TOPMed
BCO1	Q9HAY6	p.Leu400Val	rs775477981	missense variant	-	NC_000016.10:g.81280953C>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Tyr401His	rs1005564682	missense variant	-	NC_000016.10:g.81280956T>C	TOPMed
BCO1	Q9HAY6	p.Glu402Ala	rs763049247	missense variant	-	NC_000016.10:g.81280960A>C	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu402Asp	rs766662649	missense variant	-	NC_000016.10:g.81280961A>T	TOPMed
BCO1	Q9HAY6	p.Arg408Trp	rs368261768	missense variant	-	NC_000016.10:g.81285554C>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg408Gln	rs200527924	missense variant	-	NC_000016.10:g.81285555G>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Val409Ile	rs965295686	missense variant	-	NC_000016.10:g.81285557G>A	TOPMed
BCO1	Q9HAY6	p.Val409Asp	rs757924558	missense variant	-	NC_000016.10:g.81285558T>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Asn410Ser	rs1302022865	missense variant	-	NC_000016.10:g.81285561A>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Asn414His	rs1270810593	missense variant	-	NC_000016.10:g.81285572A>C	gnomAD
BCO1	Q9HAY6	p.Gly415Arg	rs1451131360	missense variant	-	NC_000016.10:g.81285575G>A	gnomAD
BCO1	Q9HAY6	p.Lys416Gln	rs1202705823	missense variant	-	NC_000016.10:g.81285578A>C	TOPMed
BCO1	Q9HAY6	p.Arg419Ter	rs920963812	stop gained	-	NC_000016.10:g.81285587C>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg419Gln	rs372527154	missense variant	-	NC_000016.10:g.81285588G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg419Leu	rs372527154	missense variant	-	NC_000016.10:g.81285588G>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Phe422Tyr	rs375802934	missense variant	-	NC_000016.10:g.81285597T>A	ESP
BCO1	Q9HAY6	p.Ala423Thr	rs1192063354	missense variant	-	NC_000016.10:g.81285599G>A	TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala423Val	rs746168176	missense variant	-	NC_000016.10:g.81285600C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Val426Gly	rs1188736466	missense variant	-	NC_000016.10:g.81285609T>G	gnomAD
BCO1	Q9HAY6	p.Gln427Arg	rs780433756	missense variant	-	NC_000016.10:g.81285612A>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gln427His	rs749790044	missense variant	-	NC_000016.10:g.81285613G>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Trp428Gly	rs769208141	missense variant	-	NC_000016.10:g.81285614T>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Ser429Asn	rs564100060	missense variant	-	NC_000016.10:g.81285618G>A	1000Genomes,ExAC,gnomAD
BCO1	Q9HAY6	p.Ser429Thr	rs564100060	missense variant	-	NC_000016.10:g.81285618G>C	1000Genomes,ExAC,gnomAD
BCO1	Q9HAY6	p.Pro430Leu	COSM3889042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81285621C>T	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Ile431Val	rs1459543837	missense variant	-	NC_000016.10:g.81285623A>G	gnomAD
BCO1	Q9HAY6	p.Ile435Leu	rs760969522	missense variant	-	NC_000016.10:g.81287295A>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile435Val	rs760969522	missense variant	-	NC_000016.10:g.81287295A>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ile436Lys	rs776504532	missense variant	-	NC_000016.10:g.81287299T>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Ile436Met	rs1388641693	missense variant	-	NC_000016.10:g.81287300A>G	TOPMed,gnomAD
BCO1	Q9HAY6	p.Leu441Pro	rs1364785681	missense variant	-	NC_000016.10:g.81287314T>C	gnomAD
BCO1	Q9HAY6	p.Lys443Glu	rs755750511	missense variant	-	NC_000016.10:g.81287319A>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ser444Pro	rs373464064	missense variant	-	NC_000016.10:g.81287322T>C	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Trp448Arg	rs1379097031	missense variant	-	NC_000016.10:g.81287334T>C	gnomAD
BCO1	Q9HAY6	p.Trp448Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.81287336G>A	NCI-TCGA
BCO1	Q9HAY6	p.Arg449Ile	rs763651894	missense variant	-	NC_000016.10:g.81287338G>T	ExAC
BCO1	Q9HAY6	p.Glu450Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.81287340G>T	NCI-TCGA
BCO1	Q9HAY6	p.Asp451Asn	rs1356326722	missense variant	-	NC_000016.10:g.81287343G>A	TOPMed
BCO1	Q9HAY6	p.Asp451Glu	rs756844444	missense variant	-	NC_000016.10:g.81287345C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp452Glu	rs1337378796	missense variant	-	NC_000016.10:g.81287348C>A	gnomAD
BCO1	Q9HAY6	p.Asp452Asn	rs754153507	missense variant	-	NC_000016.10:g.81287346G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Asp452Gly	rs143876304	missense variant	-	NC_000016.10:g.81287347A>G	ESP,ExAC,gnomAD
BCO1	Q9HAY6	p.Trp454Ter	NCI-TCGA novel	stop gained	-	NC_000016.10:g.81287353G>A	NCI-TCGA
BCO1	Q9HAY6	p.Ala456Val	rs779680407	missense variant	-	NC_000016.10:g.81287359C>T	gnomAD
BCO1	Q9HAY6	p.Ala456Gly	COSM4897603	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81287359C>G	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Glu457Lys	COSM6145338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81287361G>A	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Pro458Leu	rs1367916145	missense variant	-	NC_000016.10:g.81287365C>T	TOPMed,gnomAD
BCO1	Q9HAY6	p.Pro458Thr	rs758890015	missense variant	-	NC_000016.10:g.81287364C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Pro458Ser	rs758890015	missense variant	-	NC_000016.10:g.81287364C>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Leu459Pro	rs777855496	missense variant	-	NC_000016.10:g.81287368T>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Phe460Leu	rs747094348	missense variant	-	NC_000016.10:g.81287372T>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Phe460Tyr	rs1343462513	missense variant	-	NC_000016.10:g.81287371T>A	gnomAD
BCO1	Q9HAY6	p.Pro462Ser	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81287376C>T	NCI-TCGA
BCO1	Q9HAY6	p.Ala463Val	rs746137348	missense variant	-	NC_000016.10:g.81287380C>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala463Thr	rs375617198	missense variant	-	NC_000016.10:g.81287379G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly465Arg	rs1356505741	missense variant	-	NC_000016.10:g.81287385G>C	TOPMed
BCO1	Q9HAY6	p.Gly465Val	rs1306968185	missense variant	-	NC_000016.10:g.81287386G>T	TOPMed
BCO1	Q9HAY6	p.Ala466Gly	rs138223356	missense variant	-	NC_000016.10:g.81287389C>G	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Lys467Thr	rs1052615604	missense variant	-	NC_000016.10:g.81287392A>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp468Gly	rs562023046	missense variant	-	NC_000016.10:g.81287395A>G	1000Genomes,ExAC,gnomAD
BCO1	Q9HAY6	p.Glu469Lys	rs1331990712	missense variant	-	NC_000016.10:g.81287397G>A	gnomAD
BCO1	Q9HAY6	p.Glu469Gly	rs901569270	missense variant	-	NC_000016.10:g.81287398A>G	TOPMed
BCO1	Q9HAY6	p.Asp471Glu	rs763950117	missense variant	-	NC_000016.10:g.81287405C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly472Ala	rs143238312	missense variant	-	NC_000016.10:g.81290348G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly472Arg	rs529606533	missense variant	-	NC_000016.10:g.81287406G>C	1000Genomes,ExAC,gnomAD
BCO1	Q9HAY6	p.Gly472Arg	rs529606533	missense variant	-	NC_000016.10:g.81287406G>A	1000Genomes,ExAC,gnomAD
BCO1	Q9HAY6	p.Ile474Val	rs780170423	missense variant	-	NC_000016.10:g.81290353A>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Ser476Leu	rs1276189901	missense variant	-	NC_000016.10:g.81290360C>T	TOPMed
BCO1	Q9HAY6	p.Ser480Pro	rs1326447507	missense variant	-	NC_000016.10:g.81290371T>C	TOPMed
BCO1	Q9HAY6	p.Thr481Ile	rs754871031	missense variant	-	NC_000016.10:g.81290375C>T	ExAC,gnomAD
BCO1	Q9HAY6	p.Pro483Ala	rs1339175805	missense variant	-	NC_000016.10:g.81290380C>G	TOPMed
BCO1	Q9HAY6	p.Gln484Pro	rs967088093	missense variant	-	NC_000016.10:g.81290384A>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Leu490Phe	rs1398682170	missense variant	-	NC_000016.10:g.81290401C>T	gnomAD
BCO1	Q9HAY6	p.Asp493Val	rs1356425007	missense variant	-	NC_000016.10:g.81290411A>T	gnomAD
BCO1	Q9HAY6	p.Thr498Met	rs375017107	missense variant	-	NC_000016.10:g.81290426C>T	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Thr498Lys	rs375017107	missense variant	-	NC_000016.10:g.81290426C>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu499Lys	COSM3512714	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81290428G>A	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Arg502His	rs772645757	missense variant	-	NC_000016.10:g.81290438G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Arg502Ser	rs772011367	missense variant	-	NC_000016.10:g.81290437C>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg502Cys	rs772011367	missense variant	-	NC_000016.10:g.81290437C>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala503Gly	NCI-TCGA novel	missense variant	-	NC_000016.10:g.81290441C>G	NCI-TCGA
BCO1	Q9HAY6	p.Val505Ile	rs1487054115	missense variant	-	NC_000016.10:g.81290446G>A	gnomAD
BCO1	Q9HAY6	p.Val505Leu	rs1487054115	missense variant	-	NC_000016.10:g.81290446G>C	gnomAD
BCO1	Q9HAY6	p.Asp508Asn	rs770573150	missense variant	-	NC_000016.10:g.81290455G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Met509Val	rs1486503957	missense variant	-	NC_000016.10:g.81290458A>G	gnomAD
BCO1	Q9HAY6	p.Met509Thr	rs1179884241	missense variant	-	NC_000016.10:g.81290459T>C	gnomAD
BCO1	Q9HAY6	p.Met509Ile	rs1255264213	missense variant	-	NC_000016.10:g.81290460G>C	gnomAD
BCO1	Q9HAY6	p.Met511Val	rs776129002	missense variant	-	NC_000016.10:g.81290464A>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp512Asn	rs759269101	missense variant	-	NC_000016.10:g.81290467G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.His514Arg	rs752026741	missense variant	-	NC_000016.10:g.81290474A>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Gly515Arg	rs762349657	missense variant	-	NC_000016.10:g.81290476G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Leu516Ser	rs1417215948	missense variant	-	NC_000016.10:g.81290480T>C	gnomAD
BCO1	Q9HAY6	p.Leu516Phe	rs780913495	missense variant	-	NC_000016.10:g.81290481A>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Phe517Ser	rs1264289459	missense variant	-	NC_000016.10:g.81290483T>C	TOPMed
BCO1	Q9HAY6	p.Asp520Asn	rs750474504	missense variant	-	NC_000016.10:g.81290491G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Asp520His	rs750474504	missense variant	-	NC_000016.10:g.81290491G>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Met521Thr	rs984465964	missense variant	-	NC_000016.10:g.81290495T>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Met521Val	rs780230107	missense variant	-	NC_000016.10:g.81290494A>G	ExAC
BCO1	Q9HAY6	p.Asp522Asn	rs372672097	missense variant	-	NC_000016.10:g.81290497G>A	ESP,ExAC,gnomAD
BCO1	Q9HAY6	p.Lys526Glu	rs755252628	missense variant	-	NC_000016.10:g.81290509A>G	ExAC,gnomAD
BCO1	Q9HAY6	p.Lys526Gln	COSM4063098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81290509A>C	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Ala529Thr	rs1238825168	missense variant	-	NC_000016.10:g.81290518G>A	gnomAD
BCO1	Q9HAY6	p.Ala529Val	rs1453899750	missense variant	-	NC_000016.10:g.81290519C>T	TOPMed
BCO1	Q9HAY6	p.Ala530Pro	rs148049024	missense variant	-	NC_000016.10:g.81290521G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala530Ser	rs148049024	missense variant	-	NC_000016.10:g.81290521G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala530Thr	rs148049024	missense variant	-	NC_000016.10:g.81290521G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Glu533Gln	rs1183335331	missense variant	-	NC_000016.10:g.81290530G>C	gnomAD
BCO1	Q9HAY6	p.Gln534Glu	rs377275995	missense variant	-	NC_000016.10:g.81290533C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gln534His	rs1236668913	missense variant	-	NC_000016.10:g.81290535G>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg535Gln	rs199758470	missense variant	-	NC_000016.10:g.81290537G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg535Pro	rs199758470	missense variant	-	NC_000016.10:g.81290537G>C	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg535Trp	rs770313011	missense variant	-	NC_000016.10:g.81290536C>T	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp536Asn	rs928846473	missense variant	-	NC_000016.10:g.81290539G>A	gnomAD
BCO1	Q9HAY6	p.Asp536Tyr	rs928846473	missense variant	-	NC_000016.10:g.81290539G>T	gnomAD
BCO1	Q9HAY6	p.Arg537Lys	rs75043910	missense variant	-	NC_000016.10:g.81290543G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Arg537Ser	rs570252686	missense variant	-	NC_000016.10:g.81290544G>C	1000Genomes,ExAC,gnomAD
BCO1	Q9HAY6	p.Ala538Val	rs1395807940	missense variant	-	NC_000016.10:g.81290546C>T	gnomAD
BCO1	Q9HAY6	p.Ser539Pro	rs762298422	missense variant	-	NC_000016.10:g.81290548T>C	ExAC,gnomAD
BCO1	Q9HAY6	p.Ser539Phe	COSM3512715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.81290549C>T	NCI-TCGA Cosmic
BCO1	Q9HAY6	p.Asp540Asn	rs376817384	missense variant	-	NC_000016.10:g.81290551G>A	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp540Ala	rs1158977542	missense variant	-	NC_000016.10:g.81290552A>C	TOPMed,gnomAD
BCO1	Q9HAY6	p.Asp540His	rs376817384	missense variant	-	NC_000016.10:g.81290551G>C	ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Cys541Tyr	RCV000420606	missense variant	-	NC_000016.10:g.81290555G>A	ClinVar
BCO1	Q9HAY6	p.Cys541Tyr	rs141781255	missense variant	-	NC_000016.10:g.81290555G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.His542Leu	rs755127833	missense variant	-	NC_000016.10:g.81290558A>T	ExAC
BCO1	Q9HAY6	p.His542Gln	rs199638187	missense variant	-	NC_000016.10:g.81290559C>A	1000Genomes,ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Gly543Arg	rs752443339	missense variant	-	NC_000016.10:g.81290560G>A	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ala544Thr	rs777667407	missense variant	-	NC_000016.10:g.81290563G>A	ExAC,gnomAD
BCO1	Q9HAY6	p.Thr547Ser	rs757272575	missense variant	-	NC_000016.10:g.81290573C>G	ExAC,TOPMed,gnomAD
BCO1	Q9HAY6	p.Ter548SerGluUnkThrTerUnkUnk	NCI-TCGA novel	stop lost	-	NC_000016.10:g.81290576G>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Ser3Phe	rs771162763	missense variant	-	NC_000001.11:g.3069267C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala5Thr	rs1191048583	missense variant	-	NC_000001.11:g.3069272G>A	gnomAD
PRDM16	Q9HAZ2	p.Ala11Thr	rs1255269495	missense variant	-	NC_000001.11:g.3069290G>A	TOPMed
PRDM16	Q9HAZ2	p.Ser13Asn	rs1330765952	missense variant	-	NC_000001.11:g.3186125G>A	gnomAD
PRDM16	Q9HAZ2	p.Gly15Ser	RCV000523808	missense variant	-	NC_000001.11:g.3186130G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly15Ser	rs201559520	missense variant	-	NC_000001.11:g.3186130G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp16Glu	rs755458264	missense variant	-	NC_000001.11:g.3186135C>G	ExAC,TOPMed
PRDM16	Q9HAZ2	p.Val17Ile	RCV000615310	missense variant	-	NC_000001.11:g.3186136G>A	ClinVar
PRDM16	Q9HAZ2	p.Val17Ile	rs183153140	missense variant	-	NC_000001.11:g.3186136G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val17Phe	rs183153140	missense variant	-	NC_000001.11:g.3186136G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val17Ile	RCV000548450	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186136G>A	ClinVar
PRDM16	Q9HAZ2	p.Val17Phe	RCV000528572	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186136G>T	ClinVar
PRDM16	Q9HAZ2	p.Val18Ala	rs771752991	missense variant	-	NC_000001.11:g.3186140T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asn19Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3186144T>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Asn19Ser	rs1274428779	missense variant	-	NC_000001.11:g.3186143A>G	gnomAD
PRDM16	Q9HAZ2	p.Asn19His	rs1246236090	missense variant	-	NC_000001.11:g.3186142A>C	gnomAD
PRDM16	Q9HAZ2	p.Met21Val	rs772972557	missense variant	-	NC_000001.11:g.3186148A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met21Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3186149T>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Met21Ile	rs746620520	missense variant	-	NC_000001.11:g.3186150G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro24Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3186157C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Pro24Leu	rs770517714	missense variant	-	NC_000001.11:g.3186158C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro24His	rs770517714	missense variant	-	NC_000001.11:g.3186158C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asn25Ser	rs1239281386	missense variant	-	NC_000001.11:g.3186161A>G	gnomAD
PRDM16	Q9HAZ2	p.Asn25Ile	rs1239281386	missense variant	-	NC_000001.11:g.3186161A>T	gnomAD
PRDM16	Q9HAZ2	p.Arg26Trp	RCV000549245	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186163C>T	ClinVar
PRDM16	Q9HAZ2	p.Arg26Trp	rs769704263	missense variant	-	NC_000001.11:g.3186163C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg26Gln	rs375422885	missense variant	-	NC_000001.11:g.3186164G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp27Asn	rs1447382072	missense variant	-	NC_000001.11:g.3186166G>A	gnomAD
PRDM16	Q9HAZ2	p.Leu28Gln	rs1169589214	missense variant	-	NC_000001.11:g.3186170T>A	gnomAD
PRDM16	Q9HAZ2	p.Leu29Met	rs761849642	missense variant	-	NC_000001.11:g.3186172C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala30Thr	rs767537248	missense variant	-	NC_000001.11:g.3186175G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser31Arg	rs750535149	missense variant	-	NC_000001.11:g.3186180C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser33Gly	rs760886229	missense variant	-	NC_000001.11:g.3186184A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser33Ile	rs766525954	missense variant	-	NC_000001.11:g.3186185G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala34Val	RCV000456657	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186188C>T	ClinVar
PRDM16	Q9HAZ2	p.Ala34Ser	rs187194973	missense variant	-	NC_000001.11:g.3186187G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala34Glu	rs779535977	missense variant	-	NC_000001.11:g.3186188C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala34Thr	rs187194973	missense variant	-	NC_000001.11:g.3186187G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala34Val	rs779535977	missense variant	-	NC_000001.11:g.3186188C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala34Thr	RCV000228623	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186187G>A	ClinVar
PRDM16	Q9HAZ2	p.Glu35Lys	rs777374351	missense variant	-	NC_000001.11:g.3186190G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp36Ala	rs746503102	missense variant	-	NC_000001.11:g.3186194A>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu37Lys	rs369539275	missense variant	-	NC_000001.11:g.3186196G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu39Lys	rs775285788	missense variant	-	NC_000001.11:g.3186202G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala42Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3186212C>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Met43Ile	rs1170712675	missense variant	-	NC_000001.11:g.3186216G>A	gnomAD
PRDM16	Q9HAZ2	p.Met43Val	rs1000779523	missense variant	-	NC_000001.11:g.3186214A>G	gnomAD
PRDM16	Q9HAZ2	p.Ser44Leu	rs1033520765	missense variant	-	NC_000001.11:g.3186218C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro45Thr	rs550755189	missense variant	-	NC_000001.11:g.3186220C>A	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro47Leu	rs1383557016	missense variant	-	NC_000001.11:g.3186227C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro47Ser	rs1385905038	missense variant	-	NC_000001.11:g.3186226C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro47Thr	rs1385905038	missense variant	-	NC_000001.11:g.3186226C>A	gnomAD
PRDM16	Q9HAZ2	p.Val48Met	RCV000234327	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186229G>A	ClinVar
PRDM16	Q9HAZ2	p.Val48Met	RCV000430883	missense variant	-	NC_000001.11:g.3186229G>A	ClinVar
PRDM16	Q9HAZ2	p.Val48Met	rs199968728	missense variant	-	NC_000001.11:g.3186229G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val48Gly	rs766616489	missense variant	-	NC_000001.11:g.3186230T>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly49Val	rs754043874	missense variant	-	NC_000001.11:g.3186233G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly49Glu	RCV000486085	missense variant	-	NC_000001.11:g.3186233G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly49Glu	rs754043874	missense variant	-	NC_000001.11:g.3186233G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro51Leu	rs765652014	missense variant	-	NC_000001.11:g.3186239C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser52Phe	rs1487003070	missense variant	-	NC_000001.11:g.3186242C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser52Tyr	rs1487003070	missense variant	-	NC_000001.11:g.3186242C>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro53Leu	COSM3865272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186245C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro53Ala	rs1205915078	missense variant	-	NC_000001.11:g.3186244C>G	gnomAD
PRDM16	Q9HAZ2	p.Pro55Leu	COSM3369683	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186251C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro55Ser	rs1450785663	missense variant	-	NC_000001.11:g.3186250C>T	gnomAD
PRDM16	Q9HAZ2	p.Glu58Asp	rs780483759	missense variant	-	NC_000001.11:g.3186261G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu58Lys	rs972134115	missense variant	-	NC_000001.11:g.3186259G>A	gnomAD
PRDM16	Q9HAZ2	p.Phe60Leu	rs1361547661	missense variant	-	NC_000001.11:g.3186265T>C	gnomAD
PRDM16	Q9HAZ2	p.Thr61Asn	rs1455068514	missense variant	-	NC_000001.11:g.3186269C>A	gnomAD
PRDM16	Q9HAZ2	p.Gly65Asp	rs1401719819	missense variant	-	NC_000001.11:g.3186281G>A	TOPMed
PRDM16	Q9HAZ2	p.Gly65Ser	rs1390492668	missense variant	-	NC_000001.11:g.3186280G>A	gnomAD
PRDM16	Q9HAZ2	p.Ser66Leu	RCV000554012	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186284C>T	ClinVar
PRDM16	Q9HAZ2	p.Ser66Leu	rs374012976	missense variant	-	NC_000001.11:g.3186284C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro67Leu	RCV000469281	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186287C>T	ClinVar
PRDM16	Q9HAZ2	p.Pro67Leu	rs1060501005	missense variant	-	NC_000001.11:g.3186287C>T	gnomAD
PRDM16	Q9HAZ2	p.Glu69Lys	rs779756897	missense variant	-	NC_000001.11:g.3186292G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala70Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3186295G>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Pro71Leu	rs749093354	missense variant	-	NC_000001.11:g.3186299C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val72Gly	rs1208537671	missense variant	-	NC_000001.11:g.3186302T>G	gnomAD
PRDM16	Q9HAZ2	p.Ile74Val	rs774220044	missense variant	-	NC_000001.11:g.3186307A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp77His	rs374449916	missense variant	-	NC_000001.11:g.3186316G>C	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro79Leu	rs1181335618	missense variant	-	NC_000001.11:g.3186323C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala82Val	rs759796510	missense variant	-	NC_000001.11:g.3186332C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp83Ala	rs775941451	missense variant	-	NC_000001.11:g.3186335A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp83Glu	rs1231046017	missense variant	-	NC_000001.11:g.3186336C>G	TOPMed
PRDM16	Q9HAZ2	p.Phe84Tyr	COSM4932366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186338T>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Phe84Leu	rs370290776	missense variant	-	NC_000001.11:g.3186339C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu85Gln	rs1165923625	missense variant	-	NC_000001.11:g.3186340G>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg87Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.3186346C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg87Gln	rs764659440	missense variant	-	NC_000001.11:g.3186347G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu88Asp	rs945163627	missense variant	-	NC_000001.11:g.3186351G>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser90Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3186355T>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Ile91Val	rs1391983010	missense variant	-	NC_000001.11:g.3186358A>G	gnomAD
PRDM16	Q9HAZ2	p.Pro92Ser	COSM3487926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186361C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Gly93Glu	rs1447130590	missense variant	-	NC_000001.11:g.3186365G>A	gnomAD
PRDM16	Q9HAZ2	p.Ala94Ser	rs1338997968	missense variant	-	NC_000001.11:g.3186367G>T	gnomAD
PRDM16	Q9HAZ2	p.Arg102Thr	rs903532512	missense variant	-	NC_000001.11:g.3186392G>C	TOPMed
PRDM16	Q9HAZ2	p.Met104Thr	rs756770878	missense variant	-	NC_000001.11:g.3186398T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met104Leu	rs1187476584	missense variant	-	NC_000001.11:g.3186397A>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu105Asp	rs1033476921	missense variant	-	NC_000001.11:g.3186402A>C	TOPMed
PRDM16	Q9HAZ2	p.Ala106Thr	rs766897178	missense variant	-	NC_000001.11:g.3186403G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly107Glu	rs1216037652	missense variant	-	NC_000001.11:g.3186407G>A	TOPMed
PRDM16	Q9HAZ2	p.Arg109Ser	rs1249487074	missense variant	-	NC_000001.11:g.3186414G>T	gnomAD
PRDM16	Q9HAZ2	p.Leu110Pro	COSM4031320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186416T>C	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Gly111Asp	RCV000555918	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186419G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly111Asp	rs755705452	missense variant	-	NC_000001.11:g.3186419G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val114Met	rs749076034	missense variant	-	NC_000001.11:g.3186427G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val114Leu	rs749076034	missense variant	-	NC_000001.11:g.3186427G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val114Leu	rs749076034	missense variant	-	NC_000001.11:g.3186427G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val116Ala	rs1057524218	missense variant	-	NC_000001.11:g.3186434T>C	-
PRDM16	Q9HAZ2	p.Val116Ala	RCV000426483	missense variant	-	NC_000001.11:g.3186434T>C	ClinVar
PRDM16	Q9HAZ2	p.Pro117Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3186436C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg118Gln	RCV000532976	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186440G>A	ClinVar
PRDM16	Q9HAZ2	p.Arg118Gln	rs538278091	missense variant	-	NC_000001.11:g.3186440G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg118Trp	rs777345264	missense variant	-	NC_000001.11:g.3186439C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala119Val	rs776511558	missense variant	-	NC_000001.11:g.3186443C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala120Val	rs770130107	missense variant	-	NC_000001.11:g.3186446C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala121Ser	rs1338657465	missense variant	-	NC_000001.11:g.3186448G>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Lys122Asn	COSM6063042	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186453G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Thr124Ala	rs1454819058	missense variant	-	NC_000001.11:g.3186457A>G	gnomAD
PRDM16	Q9HAZ2	p.Phe126Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3186465C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Phe126Val	rs764416619	missense variant	-	NC_000001.11:g.3186463T>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe126Leu	rs764416619	missense variant	-	NC_000001.11:g.3186463T>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly127Arg	rs552204871	missense variant	-	NC_000001.11:g.3186466G>A	1000Genomes,gnomAD
PRDM16	Q9HAZ2	p.Gly127Glu	rs762159347	missense variant	-	NC_000001.11:g.3186467G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gln130Glu	rs898082337	missense variant	-	NC_000001.11:g.3244087C>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu132Val	rs760152938	missense variant	-	NC_000001.11:g.3244093C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Thr133Met	RCV000519955	missense variant	-	NC_000001.11:g.3244097C>T	ClinVar
PRDM16	Q9HAZ2	p.Thr133Met	rs530119550	missense variant	-	NC_000001.11:g.3244097C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val135Met	rs372159539	missense variant	-	NC_000001.11:g.3244102G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val135Leu	rs372159539	missense variant	-	NC_000001.11:g.3244102G>C	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val135Met	RCV000800420	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3244102G>A	ClinVar
PRDM16	Q9HAZ2	p.Val135Met	RCV000498621	missense variant	-	NC_000001.11:g.3244102G>A	ClinVar
PRDM16	Q9HAZ2	p.Glu136LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3244104G>-	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu136Gln	rs1289595764	missense variant	-	NC_000001.11:g.3244105G>C	TOPMed
PRDM16	Q9HAZ2	p.Val137Ala	rs1161500379	missense variant	-	NC_000001.11:g.3244109T>C	gnomAD
PRDM16	Q9HAZ2	p.Ser138Leu	RCV000605675	missense variant	-	NC_000001.11:g.3244112C>T	ClinVar
PRDM16	Q9HAZ2	p.Ser138Leu	rs552668116	missense variant	-	NC_000001.11:g.3244112C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser138Pro	rs1346765382	missense variant	-	NC_000001.11:g.3244111T>C	gnomAD
PRDM16	Q9HAZ2	p.Pro139His	rs753221183	missense variant	-	NC_000001.11:g.3244115C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro139Leu	rs753221183	missense variant	-	NC_000001.11:g.3244115C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln140His	COSM908136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3244119G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu141Lys	COSM3487956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3244120G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu141Gln	rs1258547897	missense variant	-	NC_000001.11:g.3244120G>C	TOPMed
PRDM16	Q9HAZ2	p.Cys143Tyr	rs948346242	missense variant	-	NC_000001.11:g.3244127G>A	TOPMed
PRDM16	Q9HAZ2	p.Ile144Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3244131C>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Ile144Asn	rs757284038	missense variant	-	NC_000001.11:g.3244130T>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ile144Thr	rs757284038	missense variant	-	NC_000001.11:g.3244130T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ile144Val	rs1283424828	missense variant	-	NC_000001.11:g.3244129A>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu149Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3385158G>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu149Lys	rs576922307	missense variant	-	NC_000001.11:g.3385158G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu151Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3385164C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Leu151Val	rs371021789	missense variant	-	NC_000001.11:g.3385164C>G	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser153Asn	COSM4826799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3385171G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Lys155Asn	rs1216812494	missense variant	-	NC_000001.11:g.3385178G>C	gnomAD
PRDM16	Q9HAZ2	p.Phe156Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3385181C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Cys157Tyr	rs1306661340	missense variant	-	NC_000001.11:g.3385183G>A	TOPMed
PRDM16	Q9HAZ2	p.Val158Met	rs948941830	missense variant	-	NC_000001.11:g.3385185G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp159Val	rs1202036077	missense variant	-	NC_000001.11:g.3385189A>T	gnomAD
PRDM16	Q9HAZ2	p.Ala160Thr	rs758553737	missense variant	-	NC_000001.11:g.3385191G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn161Asp	RCV000475755	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3385194A>G	ClinVar
PRDM16	Q9HAZ2	p.Asn161Tyr	rs374664141	missense variant	-	NC_000001.11:g.3385194A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn161Asp	rs374664141	missense variant	-	NC_000001.11:g.3385194A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn161His	rs374664141	missense variant	-	NC_000001.11:g.3385194A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gln162Leu	rs757661858	missense variant	-	NC_000001.11:g.3385198A>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln162Pro	rs757661858	missense variant	-	NC_000001.11:g.3385198A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala163Val	RCV000444937	missense variant	-	NC_000001.11:g.3385201C>T	ClinVar
PRDM16	Q9HAZ2	p.Ala163Gly	rs201182055	missense variant	-	NC_000001.11:g.3385201C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala163Val	rs201182055	missense variant	-	NC_000001.11:g.3385201C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala163Val	RCV000535819	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3385201C>T	ClinVar
PRDM16	Q9HAZ2	p.Gly164Arg	rs770235387	missense variant	-	NC_000001.11:g.3385203G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala165Thr	rs561382082	missense variant	-	NC_000001.11:g.3385206G>A	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly166Asp	rs1173816589	missense variant	-	NC_000001.11:g.3385210G>A	gnomAD
PRDM16	Q9HAZ2	p.Leu169Phe	rs1482685748	missense variant	-	NC_000001.11:g.3385218C>T	TOPMed
PRDM16	Q9HAZ2	p.Lys170Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3385222A>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg173His	rs768419281	missense variant	-	NC_000001.11:g.3385231G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg173Cys	rs1452901414	missense variant	-	NC_000001.11:g.3385230C>T	gnomAD
PRDM16	Q9HAZ2	p.Ala175Pro	rs1440344671	missense variant	-	NC_000001.11:g.3385236G>C	TOPMed
PRDM16	Q9HAZ2	p.Ala175Val	rs371532027	missense variant	-	NC_000001.11:g.3385237C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser177Pro	rs772909540	missense variant	-	NC_000001.11:g.3385242T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp179Asn	rs929298724	missense variant	-	NC_000001.11:g.3385248G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met185Ile	rs1023899067	missense variant	-	NC_000001.11:g.3385268G>C	TOPMed
PRDM16	Q9HAZ2	p.Met185Ile	rs1023899067	missense variant	-	NC_000001.11:g.3385268G>A	TOPMed
PRDM16	Q9HAZ2	p.Met185Val	RCV000224254	missense variant	-	NC_000001.11:g.3385266A>G	ClinVar
PRDM16	Q9HAZ2	p.Met185Val	rs376567517	missense variant	-	NC_000001.11:g.3385266A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gln187His	rs752812879	missense variant	-	NC_000001.11:g.3385274G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser189Arg	rs368081666	missense variant	-	NC_000001.11:g.3385280T>G	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gln191Glu	rs764272111	missense variant	-	NC_000001.11:g.3385284C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ile192Val	rs1414358883	missense variant	-	NC_000001.11:g.3396491A>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Tyr194Cys	COSM426108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3396498A>G	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Val196Ala	rs759431214	missense variant	-	NC_000001.11:g.3396504T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp199Tyr	rs1471095321	missense variant	-	NC_000001.11:g.3396512G>T	gnomAD
PRDM16	Q9HAZ2	p.Ile200Val	rs375877356	missense variant	-	NC_000001.11:g.3396515A>G	ESP
PRDM16	Q9HAZ2	p.Glu201Lys	COSM3865322	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3396518G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu201Gly	rs769730026	missense variant	-	NC_000001.11:g.3396519A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val208Ala	rs1342350593	missense variant	-	NC_000001.11:g.3396540T>C	gnomAD
PRDM16	Q9HAZ2	p.His209Tyr	RCV000651652	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3396542C>T	ClinVar
PRDM16	Q9HAZ2	p.His209Tyr	rs533353039	missense variant	-	NC_000001.11:g.3396542C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His209Arg	rs1174793566	missense variant	-	NC_000001.11:g.3396543A>G	TOPMed
PRDM16	Q9HAZ2	p.Val210Leu	rs760972158	missense variant	-	NC_000001.11:g.3396545G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val210Met	rs760972158	missense variant	-	NC_000001.11:g.3396545G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Lys211Asn	rs1224991988	missense variant	-	NC_000001.11:g.3396550G>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val214Ile	rs754256903	missense variant	-	NC_000001.11:g.3396557G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Tyr215Cys	rs755482445	missense variant	-	NC_000001.11:g.3396561A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Tyr215His	rs1316022343	missense variant	-	NC_000001.11:g.3396560T>C	TOPMed
PRDM16	Q9HAZ2	p.Pro216Ser	rs368140002	missense variant	-	NC_000001.11:g.3396563C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro216Thr	rs368140002	missense variant	-	NC_000001.11:g.3396563C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro216Arg	rs757889853	missense variant	-	NC_000001.11:g.3396564C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly218Asp	rs1233652453	missense variant	-	NC_000001.11:g.3396570G>A	TOPMed
PRDM16	Q9HAZ2	p.Val220Leu	rs746597198	missense variant	-	NC_000001.11:g.3396575G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro221Leu	rs756967128	missense variant	-	NC_000001.11:g.3396579C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly223Val	rs1202885373	missense variant	-	NC_000001.11:g.3396585G>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly223Ser	rs745679180	missense variant	-	NC_000001.11:g.3396584G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp225Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3396590G>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu226Lys	rs1437910317	missense variant	-	NC_000001.11:g.3396593G>A	gnomAD
PRDM16	Q9HAZ2	p.Glu227Asp	rs1461037731	missense variant	-	NC_000001.11:g.3402795G>T	gnomAD
PRDM16	Q9HAZ2	p.Glu227Lys	rs267598556	missense variant	-	NC_000001.11:g.3402793G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro228Ser	rs1182820916	missense variant	-	NC_000001.11:g.3402796C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro228Ala	rs1182820916	missense variant	-	NC_000001.11:g.3402796C>G	gnomAD
PRDM16	Q9HAZ2	p.Thr229Met	rs768642626	missense variant	-	NC_000001.11:g.3402800C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe230Ser	COSM6062974	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402803T>C	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Phe230Leu	rs747166916	missense variant	-	NC_000001.11:g.3402804C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg231His	rs1407647352	missense variant	-	NC_000001.11:g.3402806G>A	gnomAD
PRDM16	Q9HAZ2	p.Arg231Leu	rs1407647352	missense variant	-	NC_000001.11:g.3402806G>T	gnomAD
PRDM16	Q9HAZ2	p.Arg231Cys	rs771270937	missense variant	-	NC_000001.11:g.3402805C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp233Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3402813C>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu234Lys	rs367748143	missense variant	-	NC_000001.11:g.3402814G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Cys235Tyr	rs775958668	missense variant	-	NC_000001.11:g.3402818G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp236Asn	RCV000656141	missense variant	Wolff-Parkinson-White pattern	NC_000001.11:g.3402820G>A	ClinVar
PRDM16	Q9HAZ2	p.Asp236Asn	rs185041492	missense variant	-	NC_000001.11:g.3402820G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu237Lys	rs764674939	missense variant	-	NC_000001.11:g.3402823G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu237Gln	rs764674939	missense variant	-	NC_000001.11:g.3402823G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu237Asp	rs1220617517	missense variant	-	NC_000001.11:g.3402825A>C	gnomAD
PRDM16	Q9HAZ2	p.Leu238Phe	rs761381300	missense variant	-	NC_000001.11:g.3402826C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu238Arg	rs1323162076	missense variant	-	NC_000001.11:g.3402827T>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gln240His	rs750026615	missense variant	-	NC_000001.11:g.3402834G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser241Thr	rs572205989	missense variant	-	NC_000001.11:g.3402835T>A	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Lys242Glu	rs1188167348	missense variant	-	NC_000001.11:g.3402838A>G	gnomAD
PRDM16	Q9HAZ2	p.Leu243Pro	rs1474375956	missense variant	-	NC_000001.11:g.3402842T>C	gnomAD
PRDM16	Q9HAZ2	p.Leu245Pro	rs1195275808	missense variant	-	NC_000001.11:g.3402848T>C	gnomAD
PRDM16	Q9HAZ2	p.Arg246Trp	rs558961861	missense variant	-	NC_000001.11:g.3402850C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg246Gln	rs754853503	missense variant	-	NC_000001.11:g.3402851G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg247Leu	COSM681093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402854G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Arg247His	rs543104292	missense variant	-	NC_000001.11:g.3402854G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg247Cys	rs376853209	missense variant	-	NC_000001.11:g.3402853C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His248Arg	rs1318071396	missense variant	-	NC_000001.11:g.3402857A>G	gnomAD
PRDM16	Q9HAZ2	p.Lys249Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3402861G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Lys249Arg	rs541077599	missense variant	-	NC_000001.11:g.3402860A>G	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Lys250Glu	rs746051051	missense variant	-	NC_000001.11:g.3402862A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Tyr251Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3402865T>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Thr252Met	rs770148632	missense variant	-	NC_000001.11:g.3402869C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly254Asp	rs1414206081	missense variant	-	NC_000001.11:g.3402875G>A	TOPMed
PRDM16	Q9HAZ2	p.Gly254Ser	rs1276760887	missense variant	-	NC_000001.11:g.3402874G>A	gnomAD
PRDM16	Q9HAZ2	p.Val256Glu	rs1162515585	missense variant	-	NC_000001.11:g.3402881T>A	TOPMed
PRDM16	Q9HAZ2	p.Val256Leu	rs1226627634	missense variant	-	NC_000001.11:g.3402880G>T	gnomAD
PRDM16	Q9HAZ2	p.Ala258LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3402882G>-	NCI-TCGA
PRDM16	Q9HAZ2	p.Ala259Val	rs769041652	missense variant	-	NC_000001.11:g.3402890C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu260Phe	rs762328436	missense variant	-	NC_000001.11:g.3402892C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu260Val	rs762328436	missense variant	-	NC_000001.11:g.3402892C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Tyr261Asn	COSM3488188	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402895T>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Tyr261Cys	rs1440974817	missense variant	-	NC_000001.11:g.3402896A>G	TOPMed
PRDM16	Q9HAZ2	p.Glu262Lys	rs376469401	missense variant	-	NC_000001.11:g.3402898G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly263Asp	COSM3488190	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402902G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Gly263Ser	rs1478144781	missense variant	-	NC_000001.11:g.3402901G>A	gnomAD
PRDM16	Q9HAZ2	p.Leu264Gln	COSM4932954	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402905T>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Leu264Val	rs1227110445	missense variant	-	NC_000001.11:g.3402904C>G	TOPMed
PRDM16	Q9HAZ2	p.Ala265Ser	RCV000651660	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3402907G>T	ClinVar
PRDM16	Q9HAZ2	p.Ala265Ser	rs1553174330	missense variant	-	NC_000001.11:g.3402907G>T	-
PRDM16	Q9HAZ2	p.Glu266Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3402910G>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu267Lys	COSM4817528	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402913G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu267Asp	rs369972213	missense variant	-	NC_000001.11:g.3402915G>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro270Ser	rs1383227153	missense variant	-	NC_000001.11:g.3402922C>T	gnomAD
PRDM16	Q9HAZ2	p.Glu271Gln	COSM414474	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402925G>C	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu271Lys	RCV000651665	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3402925G>A	ClinVar
PRDM16	Q9HAZ2	p.Glu271Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3402927G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu271Lys	rs200052869	missense variant	Cardiomyopathy, dilated 1LL (CMD1LL)	NC_000001.11:g.3402925G>A	UniProt,dbSNP
PRDM16	Q9HAZ2	p.Glu271Lys	VAR_070212	missense variant	Cardiomyopathy, dilated 1LL (CMD1LL)	NC_000001.11:g.3402925G>A	UniProt
PRDM16	Q9HAZ2	p.Glu271Lys	rs200052869	missense variant	-	NC_000001.11:g.3402925G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly272Ser	rs1365054032	missense variant	-	NC_000001.11:g.3402928G>A	gnomAD
PRDM16	Q9HAZ2	p.Gly275Ser	rs752636134	missense variant	-	NC_000001.11:g.3402937G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly276Ter	RCV000442803	frameshift	-	NC_000001.11:g.3402941del	ClinVar
PRDM16	Q9HAZ2	p.Ser277Arg	rs758443711	missense variant	-	NC_000001.11:g.3402943A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly278Ser	rs375316181	missense variant	-	NC_000001.11:g.3402946G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly278Val	rs745961678	missense variant	-	NC_000001.11:g.3402947G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala280Thr	rs770128044	missense variant	-	NC_000001.11:g.3402952G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala280Gly	rs1207614341	missense variant	-	NC_000001.11:g.3402953C>G	gnomAD
PRDM16	Q9HAZ2	p.His281Tyr	rs749586379	missense variant	-	NC_000001.11:g.3402955C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.His281Gln	rs201199516	missense variant	-	NC_000001.11:g.3402957C>G	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His281Gln	rs201199516	missense variant	-	NC_000001.11:g.3402957C>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu282Lys	rs187351394	missense variant	-	NC_000001.11:g.3402958G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Cys283Tyr	rs772580405	missense variant	-	NC_000001.11:g.3402962G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Lys284Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3402966G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Asp285Glu	rs1385218971	missense variant	-	NC_000001.11:g.3402969C>G	gnomAD
PRDM16	Q9HAZ2	p.Cys286Tyr	rs1295398622	missense variant	-	NC_000001.11:g.3402971G>A	gnomAD
PRDM16	Q9HAZ2	p.Cys286Arg	rs772692688	missense variant	-	NC_000001.11:g.3402970T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu287Asp	rs1391060762	missense variant	-	NC_000001.11:g.3402975G>C	gnomAD
PRDM16	Q9HAZ2	p.Arg288Gln	rs141374404	missense variant	-	NC_000001.11:g.3402977G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg288Pro	rs141374404	missense variant	-	NC_000001.11:g.3402977G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg288Trp	rs529647877	missense variant	-	NC_000001.11:g.3402976C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met289Ile	RCV000223395	missense variant	-	NC_000001.11:g.3402981G>A	ClinVar
PRDM16	Q9HAZ2	p.Met289Arg	rs765044618	missense variant	-	NC_000001.11:g.3402980T>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met289Ile	rs375991356	missense variant	-	NC_000001.11:g.3402981G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met289Thr	rs765044618	missense variant	-	NC_000001.11:g.3402980T>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe290Leu	COSM1341860	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402982T>C	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro291Leu	RCV000054522	missense variant	Dilated cardiomyopathy 1LL (CMD1LL)	NC_000001.11:g.3402986C>T	ClinVar
PRDM16	Q9HAZ2	p.Pro291Leu	rs397514744	missense variant	-	NC_000001.11:g.3402986C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro291Leu	rs397514744	missense variant	Cardiomyopathy, dilated 1LL (CMD1LL)	NC_000001.11:g.3402986C>T	UniProt,dbSNP
PRDM16	Q9HAZ2	p.Pro291Leu	VAR_070213	missense variant	Cardiomyopathy, dilated 1LL (CMD1LL)	NC_000001.11:g.3402986C>T	UniProt
PRDM16	Q9HAZ2	p.Asn292Thr	rs369442806	missense variant	-	NC_000001.11:g.3402989A>C	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn292Ile	rs369442806	missense variant	-	NC_000001.11:g.3402989A>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu297Val	rs771349507	missense variant	-	NC_000001.11:g.3404744A>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met300Val	rs780699187	missense variant	-	NC_000001.11:g.3404752A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val301Ile	rs1304368343	missense variant	-	NC_000001.11:g.3404755G>A	gnomAD
PRDM16	Q9HAZ2	p.Ile302Val	RCV000651653	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3404758A>G	ClinVar
PRDM16	Q9HAZ2	p.Ile302Thr	rs745431179	missense variant	-	NC_000001.11:g.3404759T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ile302Val	rs1553174650	missense variant	-	NC_000001.11:g.3404758A>G	-
PRDM16	Q9HAZ2	p.His303Gln	rs906036861	missense variant	-	NC_000001.11:g.3404763C>A	TOPMed
PRDM16	Q9HAZ2	p.Thr304Pro	rs1001969503	missense variant	-	NC_000001.11:g.3404764A>C	TOPMed
PRDM16	Q9HAZ2	p.Thr304Met	rs377547823	missense variant	-	NC_000001.11:g.3404765C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu305Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3404767G>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu305Gly	rs554846141	missense variant	-	NC_000001.11:g.3404768A>G	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg307Cys	RCV000651666	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3404773C>T	ClinVar
PRDM16	Q9HAZ2	p.Arg307Cys	rs774291082	missense variant	-	NC_000001.11:g.3404773C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg307Leu	rs373162966	missense variant	-	NC_000001.11:g.3404774G>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg307His	rs373162966	missense variant	-	NC_000001.11:g.3404774G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Cys311Arg	rs759570043	missense variant	-	NC_000001.11:g.3404785T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp312Tyr	rs191798831	missense variant	-	NC_000001.11:g.3404788G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp312Asn	rs191798831	missense variant	-	NC_000001.11:g.3404788G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn319Ser	rs1338343369	missense variant	-	NC_000001.11:g.3404810A>G	TOPMed
PRDM16	Q9HAZ2	p.Ile325Val	rs1271201354	missense variant	-	NC_000001.11:g.3404827A>G	TOPMed
PRDM16	Q9HAZ2	p.Arg326His	rs757773480	missense variant	-	NC_000001.11:g.3404831G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg326Cys	rs751886479	missense variant	-	NC_000001.11:g.3404830C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp332Tyr	rs372445366	missense variant	-	NC_000001.11:g.3404848G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp332Asn	rs372445366	missense variant	-	NC_000001.11:g.3404848G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp332Val	rs1053218634	missense variant	-	NC_000001.11:g.3404849A>T	TOPMed
PRDM16	Q9HAZ2	p.Ser333Gly	rs911763670	missense variant	-	NC_000001.11:g.3404851A>G	TOPMed
PRDM16	Q9HAZ2	p.Gly334Ser	rs1382162421	missense variant	-	NC_000001.11:g.3404854G>A	gnomAD
PRDM16	Q9HAZ2	p.Lys335Arg	rs1292419618	missense variant	-	NC_000001.11:g.3404858A>G	gnomAD
PRDM16	Q9HAZ2	p.Arg336Cys	rs748880850	missense variant	-	NC_000001.11:g.3404860C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg336His	rs1220568010	missense variant	-	NC_000001.11:g.3404861G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu338Lys	rs1238631051	missense variant	-	NC_000001.11:g.3404866G>A	gnomAD
PRDM16	Q9HAZ2	p.Asn341Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3404877C>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Val343Met	rs1373495544	missense variant	-	NC_000001.11:g.3404881G>A	TOPMed
PRDM16	Q9HAZ2	p.Lys344Thr	rs773068904	missense variant	-	NC_000001.11:g.3404885A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val345Met	rs1208561696	missense variant	-	NC_000001.11:g.3405495G>A	gnomAD
PRDM16	Q9HAZ2	p.Thr347Met	rs746868217	missense variant	-	NC_000001.11:g.3405502C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg354Trp	rs1186759293	missense variant	-	NC_000001.11:g.3405522C>T	gnomAD
PRDM16	Q9HAZ2	p.Arg354Gln	rs776595154	missense variant	-	NC_000001.11:g.3405523G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.His355Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3405525C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Ile356Leu	rs768571449	missense variant	-	NC_000001.11:g.3405528A>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ile356Asn	rs1422231314	missense variant	-	NC_000001.11:g.3405529T>A	gnomAD
PRDM16	Q9HAZ2	p.Ile356Val	rs768571449	missense variant	-	NC_000001.11:g.3405528A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg357His	rs1182753304	missense variant	-	NC_000001.11:g.3405532G>A	TOPMed
PRDM16	Q9HAZ2	p.Arg357Cys	rs774523031	missense variant	-	NC_000001.11:g.3405531C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser358Leu	COSM3865324	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3405535C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Ser358Thr	rs1451316777	missense variant	-	NC_000001.11:g.3405534T>A	TOPMed
PRDM16	Q9HAZ2	p.Val361Met	RCV000213682	missense variant	-	NC_000001.11:g.3405543G>A	ClinVar
PRDM16	Q9HAZ2	p.Val361Met	RCV000692775	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3405543G>A	ClinVar
PRDM16	Q9HAZ2	p.Val361Met	rs876657957	missense variant	-	NC_000001.11:g.3405543G>A	TOPMed
PRDM16	Q9HAZ2	p.Val361Ala	rs1010446434	missense variant	-	NC_000001.11:g.3405544T>C	TOPMed
PRDM16	Q9HAZ2	p.Gly362Asp	rs766969882	missense variant	-	NC_000001.11:g.3405547G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala363Ser	rs754343098	missense variant	-	NC_000001.11:g.3405549G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala363Thr	rs754343098	missense variant	-	NC_000001.11:g.3405549G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg364Gln	rs1277682971	missense variant	-	NC_000001.11:g.3405553G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg364Trp	rs1419881652	missense variant	-	NC_000001.11:g.3405552C>T	gnomAD
PRDM16	Q9HAZ2	p.Ala365Ser	RCV000216650	missense variant	-	NC_000001.11:g.3405555G>T	ClinVar
PRDM16	Q9HAZ2	p.Ala365Ser	rs200562747	missense variant	-	NC_000001.11:g.3405555G>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala365Ser	RCV000651655	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3405555G>T	ClinVar
PRDM16	Q9HAZ2	p.Ala367Ser	rs752263127	missense variant	-	NC_000001.11:g.3405561G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala367Val	rs1174168963	missense variant	-	NC_000001.11:g.3405562C>T	gnomAD
PRDM16	Q9HAZ2	p.Ala367Pro	rs752263127	missense variant	-	NC_000001.11:g.3405561G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala367Thr	rs752263127	missense variant	-	NC_000001.11:g.3405561G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro369Leu	rs1199723250	missense variant	-	NC_000001.11:g.3405568C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro369His	rs1199723250	missense variant	-	NC_000001.11:g.3405568C>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp370Glu	rs777550737	missense variant	-	NC_000001.11:g.3405572C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly372Glu	rs1021620686	missense variant	-	NC_000001.11:g.3405577G>A	TOPMed
PRDM16	Q9HAZ2	p.Ala376Thr	rs745769134	missense variant	-	NC_000001.11:g.3405588G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly380Asp	rs1415570581	missense variant	-	NC_000001.11:g.3405601G>A	gnomAD
PRDM16	Q9HAZ2	p.Gly380Ser	rs772150656	missense variant	-	NC_000001.11:g.3405600G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln383Pro	COSM4902547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3405610A>C	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Ile387Val	rs1358708702	missense variant	-	NC_000001.11:g.3405621A>G	gnomAD
PRDM16	Q9HAZ2	p.Val391Met	rs771381295	missense variant	-	NC_000001.11:g.3405633G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Lys392Asn	rs1272877888	missense variant	-	NC_000001.11:g.3405638G>T	gnomAD
PRDM16	Q9HAZ2	p.Pro393Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3405640C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Pro393His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3405640C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Ile395Leu	rs1364504688	missense variant	-	NC_000001.11:g.3405645A>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Cys396Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411384G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Val398Leu	rs1480697001	missense variant	-	NC_000001.11:g.3411389G>C	gnomAD
PRDM16	Q9HAZ2	p.Lys401Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411400G>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Thr404Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411408C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Met415Lys	rs1448923535	missense variant	-	NC_000001.11:g.3411441T>A	gnomAD
PRDM16	Q9HAZ2	p.Ala417Thr	COSM414472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411446G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Asp418Asn	rs781605949	missense variant	-	NC_000001.11:g.3411449G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Cys419Tyr	rs746196584	missense variant	-	NC_000001.11:g.3411453G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg420Leu	rs752753184	missense variant	-	NC_000001.11:g.3411456G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg420His	rs752753184	missense variant	-	NC_000001.11:g.3411456G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp427Glu	rs551202646	missense variant	-	NC_000001.11:g.3411478C>G	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly429Asp	rs749740251	missense variant	-	NC_000001.11:g.3411483G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met431Lys	rs769167530	missense variant	-	NC_000001.11:g.3411489T>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser433Gly	rs1238758782	missense variant	-	NC_000001.11:g.3411494A>G	TOPMed
PRDM16	Q9HAZ2	p.Thr434Asn	rs1160095672	missense variant	-	NC_000001.11:g.3411498C>A	gnomAD
PRDM16	Q9HAZ2	p.Thr434Ala	rs773840841	missense variant	-	NC_000001.11:g.3411497A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Thr435Ile	rs1189754262	missense variant	-	NC_000001.11:g.3411501C>T	gnomAD
PRDM16	Q9HAZ2	p.Arg442Gln	RCV000414577	missense variant	-	NC_000001.11:g.3411522G>A	ClinVar
PRDM16	Q9HAZ2	p.Arg442Gln	RCV000793035	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411522G>A	ClinVar
PRDM16	Q9HAZ2	p.Arg442Gln	rs760272889	missense variant	-	NC_000001.11:g.3411522G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg442Trp	rs772868294	missense variant	-	NC_000001.11:g.3411521C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg443His	RCV000497461	missense variant	-	NC_000001.11:g.3411525G>A	ClinVar
PRDM16	Q9HAZ2	p.Arg443His	rs1313622926	missense variant	-	NC_000001.11:g.3411525G>A	TOPMed
PRDM16	Q9HAZ2	p.Phe444Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411527T>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu446Lys	rs754951137	missense variant	-	NC_000001.11:g.3411533G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Lys448Arg	rs1217634741	missense variant	-	NC_000001.11:g.3411540A>G	gnomAD
PRDM16	Q9HAZ2	p.Lys448Glu	rs1403464335	missense variant	-	NC_000001.11:g.3411539A>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His450Asn	rs751661453	missense variant	-	NC_000001.11:g.3411545C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Tyr451His	rs757463466	missense variant	-	NC_000001.11:g.3411548T>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr452Met	rs781154573	missense variant	-	NC_000001.11:g.3411552C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro453Ser	rs780411229	missense variant	-	NC_000001.11:g.3411554C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro453Leu	rs1202650948	missense variant	-	NC_000001.11:g.3411555C>T	gnomAD
PRDM16	Q9HAZ2	p.Gly454Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411557G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Gly454Ser	rs1487965698	missense variant	-	NC_000001.11:g.3411557G>A	gnomAD
PRDM16	Q9HAZ2	p.Gly455Ser	rs536908705	missense variant	-	NC_000001.11:g.3411560G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly455Ser	RCV000821989	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411560G>A	ClinVar
PRDM16	Q9HAZ2	p.Ile456Val	rs748673433	missense variant	-	NC_000001.11:g.3411563A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Phe457Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411568T>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Phe457Ser	RCV000519018	missense variant	-	NC_000001.11:g.3411567T>C	ClinVar
PRDM16	Q9HAZ2	p.Phe457Ser	rs1170937669	missense variant	-	NC_000001.11:g.3411567T>C	gnomAD
PRDM16	Q9HAZ2	p.Ala458Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411570C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Ala458Val	rs772601418	missense variant	-	NC_000001.11:g.3411570C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala458Pro	rs771526725	missense variant	-	NC_000001.11:g.3411569G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro459Ser	rs760316824	missense variant	-	NC_000001.11:g.3411572C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro459Leu	rs766003870	missense variant	-	NC_000001.11:g.3411573C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly460Asp	rs1038838939	missense variant	-	NC_000001.11:g.3411576G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly460Ser	rs1342030569	missense variant	-	NC_000001.11:g.3411575G>A	gnomAD
PRDM16	Q9HAZ2	p.Gly460Ala	rs1038838939	missense variant	-	NC_000001.11:g.3411576G>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro462Ser	COSM1341874	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411581C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro462Thr	rs546992141	missense variant	-	NC_000001.11:g.3411581C>A	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Thr464Asn	rs752633976	missense variant	-	NC_000001.11:g.3411588C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Thr464Ile	rs752633976	missense variant	-	NC_000001.11:g.3411588C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro465Ala	RCV000459138	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411590C>G	ClinVar
PRDM16	Q9HAZ2	p.Pro465Ser	rs763015619	missense variant	-	NC_000001.11:g.3411590C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro465Leu	rs767571135	missense variant	-	NC_000001.11:g.3411591C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro465Ala	rs763015619	missense variant	-	NC_000001.11:g.3411590C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser466AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3411588C>-	NCI-TCGA
PRDM16	Q9HAZ2	p.Ser466Ile	rs376891320	missense variant	-	NC_000001.11:g.3411594G>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser466Asn	rs376891320	missense variant	-	NC_000001.11:g.3411594G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro467Ser	rs370407029	missense variant	-	NC_000001.11:g.3411596C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met468Thr	rs1030763525	missense variant	-	NC_000001.11:g.3411600T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met468Arg	rs1030763525	missense variant	-	NC_000001.11:g.3411600T>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met469Thr	rs759284712	missense variant	-	NC_000001.11:g.3411603T>C	TOPMed
PRDM16	Q9HAZ2	p.Met469Lys	rs759284712	missense variant	-	NC_000001.11:g.3411603T>A	TOPMed
PRDM16	Q9HAZ2	p.Met469Ile	rs1486335994	missense variant	-	NC_000001.11:g.3411604G>A	gnomAD
PRDM16	Q9HAZ2	p.Asp470His	rs1190783586	missense variant	-	NC_000001.11:g.3411605G>C	gnomAD
PRDM16	Q9HAZ2	p.Lys471Gln	rs780210180	missense variant	-	NC_000001.11:g.3411608A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala472Val	rs994598161	missense variant	-	NC_000001.11:g.3411612C>T	TOPMed
PRDM16	Q9HAZ2	p.Pro474Ala	rs754177610	missense variant	-	NC_000001.11:g.3411617C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser475Pro	rs755283217	missense variant	-	NC_000001.11:g.3411620T>C	ExAC
PRDM16	Q9HAZ2	p.Pro476Ser	rs188908415	missense variant	-	NC_000001.11:g.3411623C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro476Ser	RCV000474106	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411623C>T	ClinVar
PRDM16	Q9HAZ2	p.Asn479Thr	rs748583430	missense variant	-	NC_000001.11:g.3411633A>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn479Ser	rs748583430	missense variant	-	NC_000001.11:g.3411633A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His480Gln	rs777323102	missense variant	-	NC_000001.11:g.3411637C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala481Thr	rs377240759	missense variant	-	NC_000001.11:g.3411638G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala481Ser	rs377240759	missense variant	-	NC_000001.11:g.3411638G>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly484Val	COSM681088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411648G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Phe485Leu	rs1365047497	missense variant	-	NC_000001.11:g.3411650T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn486Lys	rs370386474	missense variant	-	NC_000001.11:g.3411655C>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn486Ser	rs769672374	missense variant	-	NC_000001.11:g.3411654A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu487Ter	RCV000489128	frameshift	-	NC_000001.11:g.3411656del	ClinVar
PRDM16	Q9HAZ2	p.Glu487Lys	rs1288282760	missense variant	-	NC_000001.11:g.3411656G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro490Ser	COSM3488216	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411665C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro490Leu	COSM3488217	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411666C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Ser491Phe	COSM3488218	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411669C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Arg492Lys	rs12061858	missense variant	-	NC_000001.11:g.3411672G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro493Arg	rs368384353	missense variant	-	NC_000001.11:g.3411675C>G	ESP,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro493Leu	rs368384353	missense variant	-	NC_000001.11:g.3411675C>T	ESP,ExAC,gnomAD
PRDM16	Q9HAZ2	p.His494Pro	RCV000558278	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411678A>C	ClinVar
PRDM16	Q9HAZ2	p.His494Gln	rs755193238	missense variant	-	NC_000001.11:g.3411679C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His494Gln	RCV000537432	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411679C>G	ClinVar
PRDM16	Q9HAZ2	p.His494Pro	rs754016475	missense variant	-	NC_000001.11:g.3411678A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro495Gln	rs779190595	missense variant	-	NC_000001.11:g.3411681C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro495Leu	rs779190595	missense variant	-	NC_000001.11:g.3411681C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser497Asn	rs1366518929	missense variant	-	NC_000001.11:g.3411687G>A	gnomAD
PRDM16	Q9HAZ2	p.Ser497Arg	rs758937404	missense variant	-	NC_000001.11:g.3411688C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro499Ser	RCV000549933	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411692C>T	ClinVar
PRDM16	Q9HAZ2	p.Pro499Ser	rs1553176454	missense variant	-	NC_000001.11:g.3411692C>T	-
PRDM16	Q9HAZ2	p.Thr502Met	rs778182875	missense variant	-	NC_000001.11:g.3411702C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala503Val	rs1012036612	missense variant	-	NC_000001.11:g.3411705C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro504Thr	rs1399965437	missense variant	-	NC_000001.11:g.3411707C>A	gnomAD
PRDM16	Q9HAZ2	p.Pro505Ser	rs780880344	missense variant	-	NC_000001.11:g.3411710C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr506Met	RCV000611633	missense variant	-	NC_000001.11:g.3411714C>T	ClinVar
PRDM16	Q9HAZ2	p.Thr506Met	rs368543415	missense variant	-	NC_000001.11:g.3411714C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe507Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411716T>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Phe507Leu	rs981777423	missense variant	-	NC_000001.11:g.3411718C>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala509Thr	rs374937969	missense variant	-	NC_000001.11:g.3411722G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr511Asn	rs768610114	missense variant	-	NC_000001.11:g.3411729C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro512Thr	rs1243242023	missense variant	-	NC_000001.11:g.3411731C>A	gnomAD
PRDM16	Q9HAZ2	p.Pro512Leu	rs1457100796	missense variant	-	NC_000001.11:g.3411732C>T	gnomAD
PRDM16	Q9HAZ2	p.Gly513AlaPheSerTerUnkUnk	COSM1341877	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3411729C>-	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Gly513Ser	rs200278862	missense variant	-	NC_000001.11:g.3411734G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly513Ser	RCV000228195	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411734G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly513Ser	RCV000786195	missense variant	-	NC_000001.11:g.3411734G>A	ClinVar
PRDM16	Q9HAZ2	p.Pro515Leu	rs909378089	missense variant	-	NC_000001.11:g.3411741C>T	TOPMed
PRDM16	Q9HAZ2	p.Gly516Val	rs776701724	missense variant	-	NC_000001.11:g.3411744G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ile517Phe	rs759740047	missense variant	-	NC_000001.11:g.3411746A>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ile517Val	rs759740047	missense variant	-	NC_000001.11:g.3411746A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe518Leu	rs1405615150	missense variant	-	NC_000001.11:g.3411751C>G	TOPMed
PRDM16	Q9HAZ2	p.Phe518Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411750T>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Phe518Leu	rs1405615150	missense variant	-	NC_000001.11:g.3411751C>A	TOPMed
PRDM16	Q9HAZ2	p.Phe518Ser	rs753027800	missense variant	-	NC_000001.11:g.3411750T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro519Leu	rs1464457654	missense variant	-	NC_000001.11:g.3411753C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro519Ser	rs758737732	missense variant	-	NC_000001.11:g.3411752C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro519Arg	rs1464457654	missense variant	-	NC_000001.11:g.3411753C>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro520Leu	COSM3488221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411756C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Ser521Phe	COSM3488222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411759C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Ser521Cys	rs764542884	missense variant	-	NC_000001.11:g.3411759C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser521Tyr	rs764542884	missense variant	-	NC_000001.11:g.3411759C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu522Phe	RCV000602794	missense variant	-	NC_000001.11:g.3411763G>T	ClinVar
PRDM16	Q9HAZ2	p.Leu522Phe	rs554705536	missense variant	-	NC_000001.11:g.3411763G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu522Phe	RCV000526217	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411763G>T	ClinVar
PRDM16	Q9HAZ2	p.Tyr523Ser	rs1301188541	missense variant	-	NC_000001.11:g.3411765A>C	gnomAD
PRDM16	Q9HAZ2	p.Pro524His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411768C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg525Gln	RCV000694897	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411771G>A	ClinVar
PRDM16	Q9HAZ2	p.Arg525Gln	RCV000213365	missense variant	-	NC_000001.11:g.3411771G>A	ClinVar
PRDM16	Q9HAZ2	p.Arg525Ter	RCV000365162	frameshift	-	NC_000001.11:g.3411770dup	ClinVar
PRDM16	Q9HAZ2	p.Arg525Trp	rs369644938	missense variant	-	NC_000001.11:g.3411770C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg525Leu	rs373011563	missense variant	-	NC_000001.11:g.3411771G>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg525Gln	rs373011563	missense variant	-	NC_000001.11:g.3411771G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro526Leu	rs1212640513	missense variant	-	NC_000001.11:g.3411774C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro527Leu	rs1438359202	missense variant	-	NC_000001.11:g.3411777C>T	gnomAD
PRDM16	Q9HAZ2	p.Leu528Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411780T>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Leu529Pro	rs1442870549	missense variant	-	NC_000001.11:g.3411783T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro531Leu	rs1479270217	missense variant	-	NC_000001.11:g.3411789C>T	TOPMed
PRDM16	Q9HAZ2	p.Ser533Pro	RCV000217271	missense variant	-	NC_000001.11:g.3411794T>C	ClinVar
PRDM16	Q9HAZ2	p.Ser533Pro	rs870124	missense variant	-	NC_000001.11:g.3411794T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser533Pro	rs870124	missense variant	-	NC_000001.11:g.3411794T>C	UniProt,dbSNP
PRDM16	Q9HAZ2	p.Ser533Pro	VAR_031433	missense variant	-	NC_000001.11:g.3411794T>C	UniProt
PRDM16	Q9HAZ2	p.Ser533Ala	rs870124	missense variant	-	NC_000001.11:g.3411794T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser533Leu	rs540487766	missense variant	-	NC_000001.11:g.3411795C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu534Pro	rs1188025398	missense variant	-	NC_000001.11:g.3411798T>C	gnomAD
PRDM16	Q9HAZ2	p.Leu534Met	rs1157627074	missense variant	-	NC_000001.11:g.3411797C>A	TOPMed
PRDM16	Q9HAZ2	p.Lys536Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.3411803A>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Pro538Ser	rs1476625243	missense variant	-	NC_000001.11:g.3411809C>T	gnomAD
PRDM16	Q9HAZ2	p.Leu539Val	rs1420621413	missense variant	-	NC_000001.11:g.3411812C>G	gnomAD
PRDM16	Q9HAZ2	p.His541Pro	rs1305062776	missense variant	-	NC_000001.11:g.3411819A>C	TOPMed
PRDM16	Q9HAZ2	p.Thr542Ile	rs573253046	missense variant	-	NC_000001.11:g.3411822C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr542Asn	rs573253046	missense variant	-	NC_000001.11:g.3411822C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp544Asn	COSM4031532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411827G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Asp544Glu	rs199499877	missense variant	-	NC_000001.11:g.3411829C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp544Gly	rs765421823	missense variant	-	NC_000001.11:g.3411828A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala545Thr	rs763268700	missense variant	-	NC_000001.11:g.3411830G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Lys546Thr	rs764298394	missense variant	-	NC_000001.11:g.3411834A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro548Thr	RCV000656215	missense variant	Wolff-Parkinson-White pattern	NC_000001.11:g.3411839C>A	ClinVar
PRDM16	Q9HAZ2	p.Pro548Thr	rs866090726	missense variant	-	NC_000001.11:g.3411839C>A	gnomAD
PRDM16	Q9HAZ2	p.Pro548Ser	rs866090726	missense variant	-	NC_000001.11:g.3411839C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro550Ser	rs751967400	missense variant	-	NC_000001.11:g.3411845C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro550Leu	rs1023442746	missense variant	-	NC_000001.11:g.3411846C>T	gnomAD
PRDM16	Q9HAZ2	p.Asn553GluPheSerTerUnkUnk	COSM1341882	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3411849_3411850insG	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Asn553Ser	rs1331468669	missense variant	-	NC_000001.11:g.3411855A>G	gnomAD
PRDM16	Q9HAZ2	p.Leu558Pro	rs1261779350	missense variant	-	NC_000001.11:g.3411870T>C	gnomAD
PRDM16	Q9HAZ2	p.Val559Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411873T>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Val559Ile	rs1444958560	missense variant	-	NC_000001.11:g.3411872G>A	gnomAD
PRDM16	Q9HAZ2	p.Ser560Cys	rs1383131707	missense variant	-	NC_000001.11:g.3411876C>G	gnomAD
PRDM16	Q9HAZ2	p.Ala561Thr	rs748041218	missense variant	-	NC_000001.11:g.3411878G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val562Ile	rs150395260	missense variant	-	NC_000001.11:g.3411881G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val562Ile	RCV000223463	missense variant	-	NC_000001.11:g.3411881G>A	ClinVar
PRDM16	Q9HAZ2	p.Gln567Lys	rs1177160922	missense variant	-	NC_000001.11:g.3411896C>A	TOPMed
PRDM16	Q9HAZ2	p.Gly568Ser	rs763028317	missense variant	-	NC_000001.11:g.3411899G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr569Met	RCV000766606	missense variant	-	NC_000001.11:g.3411903C>T	ClinVar
PRDM16	Q9HAZ2	p.Thr569Lys	rs200647136	missense variant	-	NC_000001.11:g.3411903C>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr569Met	RCV000489145	missense variant	-	NC_000001.11:g.3411903C>T	ClinVar
PRDM16	Q9HAZ2	p.Thr569Met	rs200647136	missense variant	-	NC_000001.11:g.3411903C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr570Met	RCV000526833	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411906C>T	ClinVar
PRDM16	Q9HAZ2	p.Thr570Lys	rs138655327	missense variant	-	NC_000001.11:g.3411906C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr570Met	rs138655327	missense variant	-	NC_000001.11:g.3411906C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala572Asp	rs750914621	missense variant	-	NC_000001.11:g.3411912C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala573Val	rs1032510351	missense variant	-	NC_000001.11:g.3411915C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly574Arg	COSM6126081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411917G>C	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Gly574Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411918G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu576Lys	rs201517929	missense variant	-	NC_000001.11:g.3411923G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu576Lys	RCV000494613	missense variant	-	NC_000001.11:g.3411923G>A	ClinVar
PRDM16	Q9HAZ2	p.Lys578Arg	rs752409913	missense variant	-	NC_000001.11:g.3411930A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Phe579Leu	COSM4031533	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411934C>G	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu580Lys	rs371024796	missense variant	-	NC_000001.11:g.3411935G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser581Asn	rs1196310944	missense variant	-	NC_000001.11:g.3411939G>A	TOPMed
PRDM16	Q9HAZ2	p.Arg582His	RCV000595339	missense variant	-	NC_000001.11:g.3411942G>A	ClinVar
PRDM16	Q9HAZ2	p.Arg582His	RCV000552825	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411942G>A	ClinVar
PRDM16	Q9HAZ2	p.Arg582Cys	rs374451451	missense variant	-	NC_000001.11:g.3411941C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg582His	rs529401311	missense variant	-	NC_000001.11:g.3411942G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu583Val	rs1367227387	missense variant	-	NC_000001.11:g.3411944C>G	TOPMed
PRDM16	Q9HAZ2	p.Glu584Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411949G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Asp585Glu	rs1471230869	missense variant	-	NC_000001.11:g.3411952C>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser586Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3411953T>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Cys587Ser	rs1159210644	missense variant	-	NC_000001.11:g.3411957G>C	gnomAD
PRDM16	Q9HAZ2	p.Val588Met	rs768733228	missense variant	-	NC_000001.11:g.3411959G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu589Lys	rs1330908212	missense variant	-	NC_000001.11:g.3411962G>A	TOPMed
PRDM16	Q9HAZ2	p.Lys590Arg	rs774686539	missense variant	-	NC_000001.11:g.3411966A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg594Gly	RCV000651654	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411977A>G	ClinVar
PRDM16	Q9HAZ2	p.Arg594Thr	rs773722995	missense variant	-	NC_000001.11:g.3411978G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg594Gly	rs371292826	missense variant	-	NC_000001.11:g.3411977A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser595Asn	rs1427902958	missense variant	-	NC_000001.11:g.3411981G>A	gnomAD
PRDM16	Q9HAZ2	p.Asp597His	rs753255714	missense variant	-	NC_000001.11:g.3411986G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp597Glu	rs764675702	missense variant	-	NC_000001.11:g.3411988C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp597Asn	rs753255714	missense variant	-	NC_000001.11:g.3411986G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met598Ile	rs199657886	missense variant	-	NC_000001.11:g.3411991G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met598Thr	rs1257030350	missense variant	-	NC_000001.11:g.3411990T>C	TOPMed
PRDM16	Q9HAZ2	p.Met598Leu	rs752353194	missense variant	-	NC_000001.11:g.3411989A>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met598Val	rs752353194	missense variant	-	NC_000001.11:g.3411989A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser599Leu	rs367734333	missense variant	-	NC_000001.11:g.3411993C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly601Ser	rs773915002	missense variant	-	NC_000001.11:g.3411998G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp603Asn	rs199984813	missense variant	-	NC_000001.11:g.3412004G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val607PheIle	RCV000541556	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412016_3412020delinsTTCAT	ClinVar
PRDM16	Q9HAZ2	p.Val607Ile	rs773704725	missense variant	-	NC_000001.11:g.3412016G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val607Ala	rs866882253	missense variant	-	NC_000001.11:g.3412017T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.ValAsn607PheIle	rs1553176630	missense variant	-	NC_000001.11:g.3412016_3412020delinsTTCAT	-
PRDM16	Q9HAZ2	p.Val607Phe	rs773704725	missense variant	-	NC_000001.11:g.3412016G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn608Asp	rs1330389939	missense variant	-	NC_000001.11:g.3412019A>G	gnomAD
PRDM16	Q9HAZ2	p.Asn608Ser	rs1394308404	missense variant	-	NC_000001.11:g.3412020A>G	gnomAD
PRDM16	Q9HAZ2	p.Thr609Ile	rs1328982704	missense variant	-	NC_000001.11:g.3412023C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr610Ile	rs1231085914	missense variant	-	NC_000001.11:g.3412026C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr611Met	rs200936355	missense variant	-	NC_000001.11:g.3412029C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr611Ala	rs375535578	missense variant	-	NC_000001.11:g.3412028A>G	ESP,TOPMed
PRDM16	Q9HAZ2	p.Gly612Arg	rs777145190	missense variant	-	NC_000001.11:g.3412031G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp614Asn	rs764738323	missense variant	-	NC_000001.11:g.3412037G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp614Glu	rs774994985	missense variant	-	NC_000001.11:g.3412039C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu615Val	rs762582818	missense variant	-	NC_000001.11:g.3412040C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu615Gln	rs763805297	missense variant	-	NC_000001.11:g.3412041T>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp616Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412043G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Asp616Gly	rs757127206	missense variant	-	NC_000001.11:g.3412044A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp616Asn	rs751328307	missense variant	-	NC_000001.11:g.3412043G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Thr617Met	rs767242607	missense variant	-	NC_000001.11:g.3412047C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr617Met	RCV000498119	missense variant	-	NC_000001.11:g.3412047C>T	ClinVar
PRDM16	Q9HAZ2	p.Thr618Ala	COSM1341884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412049A>G	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Thr619Met	rs756015827	missense variant	-	NC_000001.11:g.3412053C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr621Met	rs201912252	missense variant	-	NC_000001.11:g.3412059C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly622Asp	rs1314142023	missense variant	-	NC_000001.11:g.3412062G>A	gnomAD
PRDM16	Q9HAZ2	p.Gly622Ala	rs1314142023	missense variant	-	NC_000001.11:g.3412062G>C	gnomAD
PRDM16	Q9HAZ2	p.Ser623Leu	rs758659393	missense variant	-	NC_000001.11:g.3412065C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp624Tyr	COSM6062969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412067G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Asp624His	COSM6063398	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412067G>C	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Asp624Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412067G>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Leu625Met	COSM257800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412070C>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Leu625Pro	rs747255671	missense variant	-	NC_000001.11:g.3412071T>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp626Val	RCV000217585	missense variant	-	NC_000001.11:g.3412074A>T	ClinVar
PRDM16	Q9HAZ2	p.Asp626Val	rs876657958	missense variant	-	NC_000001.11:g.3412074A>T	gnomAD
PRDM16	Q9HAZ2	p.Ser627Arg	rs746328459	missense variant	-	NC_000001.11:g.3412078C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp628Asn	RCV000466162	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412079G>A	ClinVar
PRDM16	Q9HAZ2	p.Asp628Asn	rs199895459	missense variant	-	NC_000001.11:g.3412079G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val629Met	rs568518616	missense variant	-	NC_000001.11:g.3412082G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp630Asn	rs773945570	missense variant	-	NC_000001.11:g.3412085G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp630Glu	rs1259412089	missense variant	-	NC_000001.11:g.3412087C>A	gnomAD
PRDM16	Q9HAZ2	p.Asp632Asn	rs767279028	missense variant	-	NC_000001.11:g.3412091G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro633Leu	RCV000221571	missense variant	-	NC_000001.11:g.3412095C>T	ClinVar
PRDM16	Q9HAZ2	p.Pro633Leu	rs2493292	missense variant	-	NC_000001.11:g.3412095C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp634Gly	rs766456696	missense variant	-	NC_000001.11:g.3412098A>G	ExAC
PRDM16	Q9HAZ2	p.Lys635Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412101A>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Lys635Gln	rs1292651999	missense variant	-	NC_000001.11:g.3412100A>C	TOPMed
PRDM16	Q9HAZ2	p.Asp636His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412103G>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Asp636Gly	rs752799586	missense variant	-	NC_000001.11:g.3412104A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp636Asn	rs1490850839	missense variant	-	NC_000001.11:g.3412103G>A	TOPMed
PRDM16	Q9HAZ2	p.Gly640Ser	rs1394443305	missense variant	-	NC_000001.11:g.3412115G>A	gnomAD
PRDM16	Q9HAZ2	p.Lys641Glu	rs1432756595	missense variant	-	NC_000001.11:g.3412118A>G	gnomAD
PRDM16	Q9HAZ2	p.Lys641Asn	rs778028723	missense variant	-	NC_000001.11:g.3412120G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Lys641Arg	rs758502733	missense variant	-	NC_000001.11:g.3412119A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala643Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412124G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Ala643Thr	rs554385722	missense variant	-	NC_000001.11:g.3412124G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu644Lys	RCV000431315	missense variant	-	NC_000001.11:g.3412127G>A	ClinVar
PRDM16	Q9HAZ2	p.Glu644Lys	rs61756438	missense variant	-	NC_000001.11:g.3412127G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu644Gln	rs61756438	missense variant	-	NC_000001.11:g.3412127G>C	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly645Val	rs1300993744	missense variant	-	NC_000001.11:g.3412131G>T	gnomAD
PRDM16	Q9HAZ2	p.Gly650Arg	COSM3488224	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412145G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Gly650Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412146G>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Gly651AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3412145G>-	NCI-TCGA
PRDM16	Q9HAZ2	p.Gly651Ser	RCV000651659	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412148G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly651Ser	rs770305450	missense variant	-	NC_000001.11:g.3412148G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly652Ser	rs376706452	missense variant	-	NC_000001.11:g.3412151G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu653Ser	rs371011963	missense variant	-	NC_000001.11:g.3412155T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu653Val	rs1213712892	missense variant	-	NC_000001.11:g.3412154T>G	gnomAD
PRDM16	Q9HAZ2	p.Leu653Phe	rs761510450	missense variant	-	NC_000001.11:g.3412156G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala654Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412157G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Ala654Val	rs771684634	missense variant	-	NC_000001.11:g.3412158C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala654Val	RCV000523550	missense variant	-	NC_000001.11:g.3412158C>T	ClinVar
PRDM16	Q9HAZ2	p.Pro656Leu	rs760432567	missense variant	-	NC_000001.11:g.3412164C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly657Trp	COSM6126596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412166G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Gly657Arg	rs1395601957	missense variant	-	NC_000001.11:g.3412166G>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala658Thr	rs760438677	missense variant	-	NC_000001.11:g.3412169G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala658Pro	rs760438677	missense variant	-	NC_000001.11:g.3412169G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala658Pro	RCV000462349	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412169G>C	ClinVar
PRDM16	Q9HAZ2	p.Pro659Leu	rs533776622	missense variant	-	NC_000001.11:g.3412173C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn660Lys	rs1481102666	missense variant	-	NC_000001.11:g.3412177C>G	TOPMed
PRDM16	Q9HAZ2	p.Ser661Gly	rs1453953544	missense variant	-	NC_000001.11:g.3412178A>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val662Met	RCV000529750	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412181G>A	ClinVar
PRDM16	Q9HAZ2	p.Val662Met	rs1016599754	missense variant	-	NC_000001.11:g.3412181G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala663Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412184G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Ala663Val	rs377688111	missense variant	-	NC_000001.11:g.3412185C>T	ESP,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu664Ter	RCV000627596	frameshift	-	NC_000001.11:g.3412186del	ClinVar
PRDM16	Q9HAZ2	p.Glu664Lys	rs763938877	missense variant	-	NC_000001.11:g.3412187G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val665Met	rs781311082	missense variant	-	NC_000001.11:g.3412190G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val667Ile	rs756425455	missense variant	-	NC_000001.11:g.3412196G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe668Tyr	rs1467018922	missense variant	-	NC_000001.11:g.3412200T>A	gnomAD
PRDM16	Q9HAZ2	p.Phe668Leu	rs1215332192	missense variant	-	NC_000001.11:g.3412201C>G	gnomAD
PRDM16	Q9HAZ2	p.Ser670Phe	rs780430016	missense variant	-	NC_000001.11:g.3412206C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln671Arg	rs769169264	missense variant	-	NC_000001.11:g.3412209A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser673Leu	rs1270179748	missense variant	-	NC_000001.11:g.3412215C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe674Leu	rs945579017	missense variant	-	NC_000001.11:g.3412219C>A	TOPMed
PRDM16	Q9HAZ2	p.Phe675Leu	rs1419308750	missense variant	-	NC_000001.11:g.3412220T>C	gnomAD
PRDM16	Q9HAZ2	p.Pro676Leu	rs1163688177	missense variant	-	NC_000001.11:g.3412224C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro677Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412226C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Pro677Leu	rs1463404804	missense variant	-	NC_000001.11:g.3412227C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro678Ser	rs1354516604	missense variant	-	NC_000001.11:g.3412229C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro678Arg	rs368139988	missense variant	-	NC_000001.11:g.3412230C>G	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp679His	rs772689095	missense variant	-	NC_000001.11:g.3412232G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp679Glu	rs770781991	missense variant	-	NC_000001.11:g.3412234C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp679Asn	rs772689095	missense variant	-	NC_000001.11:g.3412232G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu680Lys	rs528536647	missense variant	-	NC_000001.11:g.3412235G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gln681Arg	rs1308133919	missense variant	-	NC_000001.11:g.3412239A>G	TOPMed
PRDM16	Q9HAZ2	p.Thr684Ser	rs1256394087	missense variant	-	NC_000001.11:g.3412248C>G	TOPMed
PRDM16	Q9HAZ2	p.Ala685Thr	rs1290268218	missense variant	-	NC_000001.11:g.3412250G>A	gnomAD
PRDM16	Q9HAZ2	p.Thr686Met	rs868332674	missense variant	-	NC_000001.11:g.3412254C>T	gnomAD
PRDM16	Q9HAZ2	p.Thr686Ala	rs575376153	missense variant	-	NC_000001.11:g.3412253A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly687Ala	RCV000221873	missense variant	-	NC_000001.11:g.3412257G>C	ClinVar
PRDM16	Q9HAZ2	p.Gly687Ala	rs876657959	missense variant	-	NC_000001.11:g.3412257G>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala688Thr	rs367580261	missense variant	-	NC_000001.11:g.3412259G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala689Thr	rs750573716	missense variant	-	NC_000001.11:g.3412262G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala689Gly	rs577251077	missense variant	-	NC_000001.11:g.3412263C>G	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly690Arg	RCV000651662	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412265G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly690Arg	rs1408714731	missense variant	-	NC_000001.11:g.3412265G>A	gnomAD
PRDM16	Q9HAZ2	p.Asp691Glu	rs754263794	missense variant	-	NC_000001.11:g.3412270C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala695Thr	rs1389624914	missense variant	-	NC_000001.11:g.3412280G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala697Thr	rs779334537	missense variant	-	NC_000001.11:g.3412286G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala697Val	rs915239907	missense variant	-	NC_000001.11:g.3412287C>T	gnomAD
PRDM16	Q9HAZ2	p.Ala697Ser	rs779334537	missense variant	-	NC_000001.11:g.3412286G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala697Ser	RCV000214303	missense variant	-	NC_000001.11:g.3412286G>T	ClinVar
PRDM16	Q9HAZ2	p.Ala697Ser	RCV000651651	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412286G>T	ClinVar
PRDM16	Q9HAZ2	p.Ala700Thr	rs777339607	missense variant	-	NC_000001.11:g.3412295G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala700Val	rs1284574530	missense variant	-	NC_000001.11:g.3412296C>T	gnomAD
PRDM16	Q9HAZ2	p.Glu701Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412300G>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu701Lys	rs770765641	missense variant	-	NC_000001.11:g.3412298G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Lys702Ter	RCV000054518	nonsense	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412301A>T	ClinVar
PRDM16	Q9HAZ2	p.Lys702Ter	rs397514742	stop gained	-	NC_000001.11:g.3412301A>T	-
PRDM16	Q9HAZ2	p.Gly705Ser	rs375453690	missense variant	-	NC_000001.11:g.3412310G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro706Ala	rs369820345	missense variant	-	NC_000001.11:g.3412313C>G	ESP,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly707Ser	rs767432596	missense variant	-	NC_000001.11:g.3412316G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly707Arg	rs767432596	missense variant	-	NC_000001.11:g.3412316G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe708Leu	rs760878369	missense variant	-	NC_000001.11:g.3412319T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met709Ile	COSM6063397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412324G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Met709Thr	RCV000765130	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412323T>C	ClinVar
PRDM16	Q9HAZ2	p.Met709Thr	rs201807364	missense variant	-	NC_000001.11:g.3412323T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met709Thr	RCV000489210	missense variant	-	NC_000001.11:g.3412323T>C	ClinVar
PRDM16	Q9HAZ2	p.Met709Ile	rs754175753	missense variant	-	NC_000001.11:g.3412324G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met711Ile	rs1171883892	missense variant	-	NC_000001.11:g.3412330G>A	gnomAD
PRDM16	Q9HAZ2	p.Glu713Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412335A>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Lys715Asn	rs758955781	missense variant	-	NC_000001.11:g.3412342G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Lys715Gln	rs753076233	missense variant	-	NC_000001.11:g.3412340A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu716Val	rs530296389	missense variant	-	NC_000001.11:g.3412343C>G	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly717Val	rs746583494	missense variant	-	NC_000001.11:g.3412347G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly717Asp	rs746583494	missense variant	-	NC_000001.11:g.3412347G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser718Leu	rs756939235	missense variant	-	NC_000001.11:g.3412350C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro720Leu	COSM3488227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412356C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro720His	rs1200532527	missense variant	-	NC_000001.11:g.3412356C>A	gnomAD
PRDM16	Q9HAZ2	p.His722Asp	rs1444905889	missense variant	-	NC_000001.11:g.3412361C>G	gnomAD
PRDM16	Q9HAZ2	p.His722Asn	rs1444905889	missense variant	-	NC_000001.11:g.3412361C>A	gnomAD
PRDM16	Q9HAZ2	p.His722Gln	rs1218415690	missense variant	-	NC_000001.11:g.3412363C>G	gnomAD
PRDM16	Q9HAZ2	p.Ser723Leu	rs769438373	missense variant	-	NC_000001.11:g.3412365C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala724Val	rs777156928	missense variant	-	NC_000001.11:g.3412368C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala724Thr	rs749126430	missense variant	-	NC_000001.11:g.3412367G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Phe727Val	rs1383137153	missense variant	-	NC_000001.11:g.3412376T>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe729Leu	rs200109766	missense variant	-	NC_000001.11:g.3412384C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe729Leu	rs766466041	missense variant	-	NC_000001.11:g.3412382T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Phe729Leu	RCV000559473	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412384C>G	ClinVar
PRDM16	Q9HAZ2	p.Leu730Arg	rs1460341017	missense variant	-	NC_000001.11:g.3412386T>G	gnomAD
PRDM16	Q9HAZ2	p.Pro731Ser	rs759756565	missense variant	-	NC_000001.11:g.3412388C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro734Ser	rs753162594	missense variant	-	NC_000001.11:g.3412397C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.His735Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412401A>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Leu737Val	COSM116023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412406C>G	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Leu737Phe	rs764703147	missense variant	-	NC_000001.11:g.3412406C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Tyr738Ter	COSM4031538	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3412411C>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro739Ala	RCV000522569	missense variant	-	NC_000001.11:g.3412412C>G	ClinVar
PRDM16	Q9HAZ2	p.Pro739Ala	rs1553176925	missense variant	-	NC_000001.11:g.3412412C>G	-
PRDM16	Q9HAZ2	p.Thr741Met	rs759903951	missense variant	-	NC_000001.11:g.3412419C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp742Tyr	COSM6063396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412421G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Arg743Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.3412424C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg743Leu	rs532623381	missense variant	-	NC_000001.11:g.3412425G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg743Gly	rs560412765	missense variant	-	NC_000001.11:g.3412424C>G	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg743Pro	rs532623381	missense variant	-	NC_000001.11:g.3412425G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg743Gln	rs532623381	missense variant	-	NC_000001.11:g.3412425G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu745Val	rs568480531	missense variant	-	NC_000001.11:g.3412430C>G	1000Genomes
PRDM16	Q9HAZ2	p.Ala746Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412434C>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Ala746Thr	rs375259092	missense variant	-	NC_000001.11:g.3412433G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala746Asp	rs1181206904	missense variant	-	NC_000001.11:g.3412434C>A	gnomAD
PRDM16	Q9HAZ2	p.Ala746Ser	rs375259092	missense variant	-	NC_000001.11:g.3412433G>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His747Asp	rs1362090844	missense variant	-	NC_000001.11:g.3412436C>G	gnomAD
PRDM16	Q9HAZ2	p.His747Arg	rs995205684	missense variant	-	NC_000001.11:g.3412437A>G	TOPMed
PRDM16	Q9HAZ2	p.Ala753Ser	rs778769330	missense variant	-	NC_000001.11:g.3412454G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu754Lys	RCV000546538	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412457G>A	ClinVar
PRDM16	Q9HAZ2	p.Glu754Gln	rs369599647	missense variant	-	NC_000001.11:g.3412457G>C	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu754Lys	rs369599647	missense variant	-	NC_000001.11:g.3412457G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro755Gln	rs969598014	missense variant	-	NC_000001.11:g.3412461C>A	TOPMed
PRDM16	Q9HAZ2	p.Pro755Thr	rs1396633685	missense variant	-	NC_000001.11:g.3412460C>A	gnomAD
PRDM16	Q9HAZ2	p.Lys756Asn	rs1327610924	missense variant	-	NC_000001.11:g.3412465G>T	gnomAD
PRDM16	Q9HAZ2	p.Pro758Leu	rs377758631	missense variant	-	NC_000001.11:g.3412470C>T	ESP,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro758Ser	rs770119635	missense variant	-	NC_000001.11:g.3412469C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg759Gln	rs762997591	missense variant	-	NC_000001.11:g.3412473G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg759Trp	rs752903093	missense variant	-	NC_000001.11:g.3412472C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg759Gly	rs752903093	missense variant	-	NC_000001.11:g.3412472C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp760Glu	rs568097564	missense variant	-	NC_000001.11:g.3412477C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala761Thr	RCV000461410	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412478G>A	ClinVar
PRDM16	Q9HAZ2	p.Ala761Pro	rs200947814	missense variant	-	NC_000001.11:g.3412478G>C	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala761Thr	rs200947814	missense variant	-	NC_000001.11:g.3412478G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu762Val	rs1306991002	missense variant	-	NC_000001.11:g.3412481C>G	TOPMed
PRDM16	Q9HAZ2	p.Leu762Pro	rs1248519854	missense variant	-	NC_000001.11:g.3412482T>C	gnomAD
PRDM16	Q9HAZ2	p.Lys763Gln	rs755721207	missense variant	-	NC_000001.11:g.3412484A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val764Met	RCV000226109	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412487G>A	ClinVar
PRDM16	Q9HAZ2	p.Val764Met	rs149333409	missense variant	-	NC_000001.11:g.3412487G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly766Ser	RCV000558931	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412493G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly766Ala	rs778681326	missense variant	-	NC_000001.11:g.3412494G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly766Ser	rs199998420	missense variant	-	NC_000001.11:g.3412493G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly766Asp	rs778681326	missense variant	-	NC_000001.11:g.3412494G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly766Val	rs778681326	missense variant	-	NC_000001.11:g.3412494G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly766Ser	RCV000612968	missense variant	-	NC_000001.11:g.3412493G>A	ClinVar
PRDM16	Q9HAZ2	p.Pro767Leu	rs1458359946	missense variant	-	NC_000001.11:g.3412497C>T	gnomAD
PRDM16	Q9HAZ2	p.Ser768Arg	rs199817629	missense variant	-	NC_000001.11:g.3412501T>G	ESP,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser768Arg	rs772054022	missense variant	-	NC_000001.11:g.3412499A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu770Lys	rs769885024	missense variant	-	NC_000001.11:g.3412505G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Cys771Ser	rs1354451621	missense variant	-	NC_000001.11:g.3412509G>C	gnomAD
PRDM16	Q9HAZ2	p.Asp774Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412517G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Asp774Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412519T>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Thr776Ile	rs1380028151	missense variant	-	NC_000001.11:g.3412524C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro779Leu	rs1239211928	missense variant	-	NC_000001.11:g.3412533C>T	TOPMed
PRDM16	Q9HAZ2	p.Lys780Glu	rs1459365687	missense variant	-	NC_000001.11:g.3412535A>G	TOPMed
PRDM16	Q9HAZ2	p.Lys780Arg	rs1038198761	missense variant	-	NC_000001.11:g.3412536A>G	-
PRDM16	Q9HAZ2	p.Asp781Asn	rs1227133282	missense variant	-	NC_000001.11:g.3412538G>A	gnomAD
PRDM16	Q9HAZ2	p.Val782Met	rs763116381	missense variant	-	NC_000001.11:g.3412541G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Lys783Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412544A>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Pro784Leu	COSM3488230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412548C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro784Ser	rs183595422	missense variant	-	NC_000001.11:g.3412547C>T	1000Genomes
PRDM16	Q9HAZ2	p.Pro784Arg	rs1460565334	missense variant	-	NC_000001.11:g.3412548C>G	gnomAD
PRDM16	Q9HAZ2	p.Pro787His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412557C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Pro787Leu	rs774871878	missense variant	-	NC_000001.11:g.3412557C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met788Leu	rs768208960	missense variant	-	NC_000001.11:g.3412559A>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met788Lys	rs1257108498	missense variant	-	NC_000001.11:g.3412560T>A	gnomAD
PRDM16	Q9HAZ2	p.Pro789Ser	rs1473371955	missense variant	-	NC_000001.11:g.3412562C>T	TOPMed
PRDM16	Q9HAZ2	p.Lys790Arg	rs772822432	missense variant	-	NC_000001.11:g.3412566A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser793Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412575C>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Ser793Leu	rs753460866	missense variant	-	NC_000001.11:g.3412575C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala794Thr	rs1374253487	missense variant	-	NC_000001.11:g.3412577G>A	gnomAD
PRDM16	Q9HAZ2	p.Pro795Leu	rs765002600	missense variant	-	NC_000001.11:g.3412581C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala796Thr	RCV000478115	missense variant	-	NC_000001.11:g.3412583G>A	ClinVar
PRDM16	Q9HAZ2	p.Ala796Thr	rs367879720	missense variant	-	NC_000001.11:g.3412583G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser797Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3412587C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Gly798Cys	rs371920642	missense variant	-	NC_000001.11:g.3412589G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly798Ser	rs371920642	missense variant	-	NC_000001.11:g.3412589G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly798Arg	rs371920642	missense variant	-	NC_000001.11:g.3412589G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu799Lys	rs749471483	missense variant	-	NC_000001.11:g.3412592G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu800Lys	COSM3865336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412595G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu800Asp	rs201295872	missense variant	-	NC_000001.11:g.3412597G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln801His	rs774855381	missense variant	-	NC_000001.11:g.3412600G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro802Leu	rs1213107052	missense variant	-	NC_000001.11:g.3412602C>T	gnomAD
PRDM16	Q9HAZ2	p.Ile807Val	rs772583416	missense variant	-	NC_000001.11:g.3412616A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ile807Met	rs549044743	missense variant	-	NC_000001.11:g.3412618C>G	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly808Ser	rs761120771	missense variant	-	NC_000001.11:g.3412619G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser809Thr	rs765866896	missense variant	-	NC_000001.11:g.3412623G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg810Trp	rs776055411	missense variant	-	NC_000001.11:g.3412625C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg810Gln	rs1394386492	missense variant	-	NC_000001.11:g.3412626G>A	gnomAD
PRDM16	Q9HAZ2	p.Ala811Ser	rs759159465	missense variant	-	NC_000001.11:g.3412628G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg812Cys	RCV000820926	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412631C>T	ClinVar
PRDM16	Q9HAZ2	p.Arg812Cys	RCV000221476	missense variant	-	NC_000001.11:g.3412631C>T	ClinVar
PRDM16	Q9HAZ2	p.Arg812His	rs764936593	missense variant	-	NC_000001.11:g.3412632G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg812Cys	rs876657960	missense variant	-	NC_000001.11:g.3412631C>T	gnomAD
PRDM16	Q9HAZ2	p.Ala813Gly	rs1304823527	missense variant	-	NC_000001.11:g.3412635C>G	gnomAD
PRDM16	Q9HAZ2	p.Ser814Cys	rs1360298417	missense variant	-	NC_000001.11:g.3412637A>T	gnomAD
PRDM16	Q9HAZ2	p.Ser814Arg	rs752476219	missense variant	-	NC_000001.11:g.3412639C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser814Gly	rs1360298417	missense variant	-	NC_000001.11:g.3412637A>G	gnomAD
PRDM16	Q9HAZ2	p.Ser814Asn	rs1436260455	missense variant	-	NC_000001.11:g.3412638G>A	gnomAD
PRDM16	Q9HAZ2	p.Gln815Arg	rs1369390354	missense variant	-	NC_000001.11:g.3412641A>G	gnomAD
PRDM16	Q9HAZ2	p.Gln815Ter	RCV000468700	nonsense	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412640C>T	ClinVar
PRDM16	Q9HAZ2	p.Gln815Ter	rs1060500997	stop gained	-	NC_000001.11:g.3412640C>T	-
PRDM16	Q9HAZ2	p.Asn816Ser	RCV000853165	missense variant	Familial restrictive cardiomyopathy (RCM)	NC_000001.11:g.3412644A>G	ClinVar
PRDM16	Q9HAZ2	p.Asn816Lys	rs372189819	missense variant	-	NC_000001.11:g.3412645C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn816Ser	rs397514743	missense variant	-	NC_000001.11:g.3412644A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn816Ser	rs397514743	missense variant	Left ventricular non-compaction 8 (LVNC8)	NC_000001.11:g.3412644A>G	UniProt,dbSNP
PRDM16	Q9HAZ2	p.Asn816Ser	VAR_070214	missense variant	Left ventricular non-compaction 8 (LVNC8)	NC_000001.11:g.3412644A>G	UniProt
PRDM16	Q9HAZ2	p.Asn816Asp	rs1464206016	missense variant	-	NC_000001.11:g.3412643A>G	TOPMed
PRDM16	Q9HAZ2	p.Gly817Ser	RCV000611940	missense variant	-	NC_000001.11:g.3412646G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly817Ser	rs375308440	missense variant	-	NC_000001.11:g.3412646G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly818Ser	RCV000232966	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412649G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly818Ser	rs201904226	missense variant	-	NC_000001.11:g.3412649G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly819Arg	rs755243204	missense variant	-	NC_000001.11:g.3412652G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly819Arg	rs755243204	missense variant	-	NC_000001.11:g.3412652G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg820Gln	rs772528427	missense variant	-	NC_000001.11:g.3412656G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg820Trp	rs748390268	missense variant	-	NC_000001.11:g.3412655C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro822Thr	rs1442294563	missense variant	-	NC_000001.11:g.3412661C>A	TOPMed
PRDM16	Q9HAZ2	p.Arg823Cys	RCV000471354	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412664C>T	ClinVar
PRDM16	Q9HAZ2	p.Arg823Cys	rs932569189	missense variant	-	NC_000001.11:g.3412664C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg823Leu	rs371654192	missense variant	-	NC_000001.11:g.3412665G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg823His	RCV000603381	missense variant	-	NC_000001.11:g.3412665G>A	ClinVar
PRDM16	Q9HAZ2	p.Arg823Pro	RCV000223185	missense variant	-	NC_000001.11:g.3412665G>C	ClinVar
PRDM16	Q9HAZ2	p.Arg823His	rs371654192	missense variant	-	NC_000001.11:g.3412665G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg823Pro	rs371654192	missense variant	-	NC_000001.11:g.3412665G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val827Ile	rs776201909	missense variant	-	NC_000001.11:g.3412676G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Tyr828His	rs1458133079	missense variant	-	NC_000001.11:g.3412679T>C	gnomAD
PRDM16	Q9HAZ2	p.Glu830Val	rs1484752359	missense variant	-	NC_000001.11:g.3412686A>T	gnomAD
PRDM16	Q9HAZ2	p.Arg831Cys	rs1392945429	missense variant	-	NC_000001.11:g.3412688C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg831His	rs1439171485	missense variant	-	NC_000001.11:g.3412689G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly834Asp	rs759104573	missense variant	-	NC_000001.11:g.3412698G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala835Thr	rs755872965	missense variant	-	NC_000001.11:g.3412700G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly836Ser	RCV000221333	missense variant	-	NC_000001.11:g.3412703G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly836Ser	rs114204766	missense variant	-	NC_000001.11:g.3412703G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu837Lys	RCV000697800	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412706G>A	ClinVar
PRDM16	Q9HAZ2	p.Glu837Val	rs1332598606	missense variant	-	NC_000001.11:g.3412707A>T	gnomAD
PRDM16	Q9HAZ2	p.Glu837Lys	rs1343697961	missense variant	-	NC_000001.11:g.3412706G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu837Asp	rs1223606621	missense variant	-	NC_000001.11:g.3412708G>C	gnomAD
PRDM16	Q9HAZ2	p.Gly838Arg	rs1247206517	missense variant	-	NC_000001.11:g.3412709G>C	gnomAD
PRDM16	Q9HAZ2	p.Gly838Trp	rs1247206517	missense variant	-	NC_000001.11:g.3412709G>T	gnomAD
PRDM16	Q9HAZ2	p.Val842Leu	rs527355817	missense variant	-	NC_000001.11:g.3412721G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro844Leu	rs753949982	missense variant	-	NC_000001.11:g.3412728C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro844Thr	rs767418172	missense variant	-	NC_000001.11:g.3412727C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala845Val	rs779169196	missense variant	-	NC_000001.11:g.3412731C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg846Trp	RCV000476374	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412733C>T	ClinVar
PRDM16	Q9HAZ2	p.Arg846Gln	rs758745187	missense variant	-	NC_000001.11:g.3412734G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg846Trp	rs752922142	missense variant	-	NC_000001.11:g.3412733C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met847Leu	RCV000559879	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412736A>T	ClinVar
PRDM16	Q9HAZ2	p.Met847Leu	rs369624816	missense variant	-	NC_000001.11:g.3412736A>T	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met847Val	rs369624816	missense variant	-	NC_000001.11:g.3412736A>G	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro848Ser	rs1309905548	missense variant	-	NC_000001.11:g.3412739C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro851Ser	rs1020929529	missense variant	-	NC_000001.11:g.3412748C>T	TOPMed
PRDM16	Q9HAZ2	p.Pro851Leu	rs1414328567	missense variant	-	NC_000001.11:g.3412749C>T	gnomAD
PRDM16	Q9HAZ2	p.Pro852Leu	rs771456448	missense variant	-	NC_000001.11:g.3412752C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro852Gln	rs771456448	missense variant	-	NC_000001.11:g.3412752C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu853Ile	rs1229821106	missense variant	-	NC_000001.11:g.3412754C>A	gnomAD
PRDM16	Q9HAZ2	p.Ala856Thr	rs377029492	missense variant	-	NC_000001.11:g.3412763G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser859Leu	RCV000215161	missense variant	-	NC_000001.11:g.3412773C>T	ClinVar
PRDM16	Q9HAZ2	p.Ser859Leu	RCV000468206	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412773C>T	ClinVar
PRDM16	Q9HAZ2	p.Ser859Leu	rs370046582	missense variant	-	NC_000001.11:g.3412773C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro860His	rs1254943167	missense variant	-	NC_000001.11:g.3412776C>A	gnomAD
PRDM16	Q9HAZ2	p.Pro860Ser	rs1209635056	missense variant	-	NC_000001.11:g.3412775C>T	gnomAD
PRDM16	Q9HAZ2	p.Phe862Leu	rs1322016235	missense variant	-	NC_000001.11:g.3412783C>G	TOPMed
PRDM16	Q9HAZ2	p.Met863Val	rs1489156449	missense variant	-	NC_000001.11:g.3412784A>G	gnomAD
PRDM16	Q9HAZ2	p.Asp864His	rs1182769018	missense variant	-	NC_000001.11:g.3412787G>C	gnomAD
PRDM16	Q9HAZ2	p.Pro865Thr	rs1330865718	missense variant	-	NC_000001.11:g.3412790C>A	TOPMed
PRDM16	Q9HAZ2	p.Tyr867His	rs1419481200	missense variant	-	NC_000001.11:g.3412796T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg869Ser	rs1012942050	missense variant	-	NC_000001.11:g.3414563G>C	TOPMed
PRDM16	Q9HAZ2	p.Arg869Lys	rs1037369704	missense variant	-	NC_000001.11:g.3414562G>A	TOPMed
PRDM16	Q9HAZ2	p.Val870Ala	rs780593352	missense variant	-	NC_000001.11:g.3414565T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu871Lys	rs749811828	missense variant	-	NC_000001.11:g.3414567G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg873Trp	rs754375101	missense variant	-	NC_000001.11:g.3414573C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg873Gln	rs184929979	missense variant	-	NC_000001.11:g.3414574G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr876Ile	rs895618007	missense variant	-	NC_000001.11:g.3414583C>T	TOPMed
PRDM16	Q9HAZ2	p.Thr876Ala	rs747737208	missense variant	-	NC_000001.11:g.3414582A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp877Tyr	rs572014192	missense variant	-	NC_000001.11:g.3414585G>T	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val879Met	rs746861136	missense variant	-	NC_000001.11:g.3414591G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val879Met	RCV000823144	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3414591G>A	ClinVar
PRDM16	Q9HAZ2	p.Val879Met	RCV000498032	missense variant	-	NC_000001.11:g.3414591G>A	ClinVar
PRDM16	Q9HAZ2	p.Ala881Thr	rs1440026597	missense variant	-	NC_000001.11:g.3414597G>A	gnomAD
PRDM16	Q9HAZ2	p.Ala881Val	rs1321015846	missense variant	-	NC_000001.11:g.3414598C>T	gnomAD
PRDM16	Q9HAZ2	p.Leu882Pro	rs1436568404	missense variant	-	NC_000001.11:g.3414601T>C	gnomAD
PRDM16	Q9HAZ2	p.Glu884Gln	COSM3789903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3414606G>C	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu884Lys	COSM3488234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3414606G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Tyr886His	rs1269124082	missense variant	-	NC_000001.11:g.3414612T>C	gnomAD
PRDM16	Q9HAZ2	p.Leu887Pro	rs202115331	missense variant	-	NC_000001.11:g.3414616T>C	gnomAD
PRDM16	Q9HAZ2	p.Leu887Pro	RCV000054523	missense variant	Dilated cardiomyopathy 1LL (CMD1LL)	NC_000001.11:g.3414616T>C	ClinVar
PRDM16	Q9HAZ2	p.Arg888Gln	rs201119848	missense variant	-	NC_000001.11:g.3414619G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg888Trp	rs1208513057	missense variant	-	NC_000001.11:g.3414618C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro889Leu	RCV000686322	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3414622C>T	ClinVar
PRDM16	Q9HAZ2	p.Pro889Leu	RCV000656180	missense variant	Wolff-Parkinson-White pattern	NC_000001.11:g.3414622C>T	ClinVar
PRDM16	Q9HAZ2	p.Pro889Leu	rs201814961	missense variant	-	NC_000001.11:g.3414622C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser890Pro	rs761909508	missense variant	-	NC_000001.11:g.3414624T>C	ExAC
PRDM16	Q9HAZ2	p.Ser890Phe	rs372004034	missense variant	-	NC_000001.11:g.3414625C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro891Leu	rs573567598	missense variant	-	NC_000001.11:g.3414628C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gln897ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3414641C>-	NCI-TCGA
PRDM16	Q9HAZ2	p.Met898Ile	rs759958364	missense variant	-	NC_000001.11:g.3417830G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala900Val	rs1279942845	missense variant	-	NC_000001.11:g.3417835C>T	gnomAD
PRDM16	Q9HAZ2	p.Ile901Thr	rs1482371535	missense variant	-	NC_000001.11:g.3417838T>C	gnomAD
PRDM16	Q9HAZ2	p.Glu902Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.3417840G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu902Gln	rs1337997114	missense variant	-	NC_000001.11:g.3417840G>C	TOPMed
PRDM16	Q9HAZ2	p.Met904Ile	rs765834094	missense variant	-	NC_000001.11:g.3417848G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu908Met	COSM908367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3417858C>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu909Asp	COSM3488239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3417863G>C	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu909Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3417861G>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu909Lys	rs1187916769	missense variant	-	NC_000001.11:g.3417861G>A	gnomAD
PRDM16	Q9HAZ2	p.Ser910Gly	rs777457274	missense variant	-	NC_000001.11:g.3417864A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala912Pro	rs751209278	missense variant	-	NC_000001.11:g.3417870G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala913SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3417871_3417872insG	NCI-TCGA
PRDM16	Q9HAZ2	p.Met914Thr	RCV000229654	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417877T>C	ClinVar
PRDM16	Q9HAZ2	p.Met914Thr	RCV000493075	missense variant	-	NC_000001.11:g.3417877T>C	ClinVar
PRDM16	Q9HAZ2	p.Met914Val	rs757018869	missense variant	-	NC_000001.11:g.3417876A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met914Lys	rs201304831	missense variant	-	NC_000001.11:g.3417877T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met914Thr	rs201304831	missense variant	-	NC_000001.11:g.3417877T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala916Val	rs756209340	missense variant	-	NC_000001.11:g.3417883C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala916Val	RCV000203205	missense variant	-	NC_000001.11:g.3417883C>T	ClinVar
PRDM16	Q9HAZ2	p.Ser918Leu	rs556571848	missense variant	-	NC_000001.11:g.3417889C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly919Asp	rs894891138	missense variant	-	NC_000001.11:g.3417892G>A	TOPMed
PRDM16	Q9HAZ2	p.Gly919Ser	rs375126788	missense variant	-	NC_000001.11:g.3417891G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly919Cys	rs375126788	missense variant	-	NC_000001.11:g.3417891G>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser921Pro	rs773332334	missense variant	-	NC_000001.11:g.3417897T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu922Val	rs576629075	missense variant	-	NC_000001.11:g.3417900C>G	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln923His	rs771212094	missense variant	-	NC_000001.11:g.3417905G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro924Arg	rs776849795	missense variant	-	NC_000001.11:g.3417907C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His927Asn	rs1043747428	missense variant	-	NC_000001.11:g.3417915C>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His927Pro	rs763577669	missense variant	-	NC_000001.11:g.3417916A>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His927Pro	RCV000413206	missense variant	-	NC_000001.11:g.3417916A>C	ClinVar
PRDM16	Q9HAZ2	p.His928Pro	rs1431106474	missense variant	-	NC_000001.11:g.3417919A>C	gnomAD
PRDM16	Q9HAZ2	p.His928Gln	rs377067594	missense variant	-	NC_000001.11:g.3417920C>G	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro929His	RCV000687422	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417922C>A	ClinVar
PRDM16	Q9HAZ2	p.Pro929His	RCV000219521	missense variant	-	NC_000001.11:g.3417922C>A	ClinVar
PRDM16	Q9HAZ2	p.Pro929Thr	rs371433856	missense variant	-	NC_000001.11:g.3417921C>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro929Ser	rs371433856	missense variant	-	NC_000001.11:g.3417921C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro929His	rs145632008	missense variant	-	NC_000001.11:g.3417922C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro929Leu	rs145632008	missense variant	-	NC_000001.11:g.3417922C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Phe930Leu	rs1157336405	missense variant	-	NC_000001.11:g.3417924T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn931His	rs1218570919	missense variant	-	NC_000001.11:g.3417927A>C	TOPMed
PRDM16	Q9HAZ2	p.Arg933SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3417930_3417931insTC	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg933Leu	rs572092688	missense variant	-	NC_000001.11:g.3417934G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg933Gln	rs572092688	missense variant	-	NC_000001.11:g.3417934G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg933Trp	rs371460126	missense variant	-	NC_000001.11:g.3417933C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg933Trp	RCV000651670	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417933C>T	ClinVar
PRDM16	Q9HAZ2	p.Pro936Arg	rs749171035	missense variant	-	NC_000001.11:g.3417943C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro936Ser	rs1388592309	missense variant	-	NC_000001.11:g.3417942C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro936Leu	rs749171035	missense variant	-	NC_000001.11:g.3417943C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro937Ala	rs374972823	missense variant	-	NC_000001.11:g.3417945C>G	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro937Leu	rs747152216	missense variant	-	NC_000001.11:g.3417946C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro937Ala	RCV000475724	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417945C>G	ClinVar
PRDM16	Q9HAZ2	p.Pro937Thr	rs374972823	missense variant	-	NC_000001.11:g.3417945C>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr938Met	RCV000471782	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417949C>T	ClinVar
PRDM16	Q9HAZ2	p.Thr938Ter	RCV000221072	frameshift	-	NC_000001.11:g.3417945_3417946dup	ClinVar
PRDM16	Q9HAZ2	p.Thr938Lys	rs541102613	missense variant	-	NC_000001.11:g.3417949C>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr938Met	rs541102613	missense variant	-	NC_000001.11:g.3417949C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu939Pro	rs1487256668	missense variant	-	NC_000001.11:g.3417952T>C	gnomAD
PRDM16	Q9HAZ2	p.Leu939Phe	rs150022595	missense variant	-	NC_000001.11:g.3417951C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu939Ile	rs150022595	missense variant	-	NC_000001.11:g.3417951C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu939Val	rs150022595	missense variant	-	NC_000001.11:g.3417951C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu939Val	RCV000414615	missense variant	-	NC_000001.11:g.3417951C>G	ClinVar
PRDM16	Q9HAZ2	p.Leu939Ile	RCV000548693	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417951C>A	ClinVar
PRDM16	Q9HAZ2	p.Ser940Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3417955C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Asp941Asn	rs538880639	missense variant	-	NC_000001.11:g.3417957G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp941Val	rs761348051	missense variant	-	NC_000001.11:g.3417958A>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu944Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3417966C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg945Gly	rs750050306	missense variant	-	NC_000001.11:g.3417969A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly947Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3417975G>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Lys948Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3417978A>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Lys948Gln	rs1164779249	missense variant	-	NC_000001.11:g.3417978A>C	gnomAD
PRDM16	Q9HAZ2	p.Glu949Lys	rs1348619414	missense variant	-	NC_000001.11:g.3417981G>A	gnomAD
PRDM16	Q9HAZ2	p.Arg950Pro	rs755741214	missense variant	-	NC_000001.11:g.3417985G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg950Gln	rs755741214	missense variant	-	NC_000001.11:g.3417985G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg950Ter	rs1294136105	stop gained	-	NC_000001.11:g.3417984C>T	gnomAD
PRDM16	Q9HAZ2	p.Tyr951Cys	COSM681084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3417988A>G	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Tyr951Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3417987T>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Thr952Met	RCV000656157	missense variant	Wolff-Parkinson-White pattern	NC_000001.11:g.3417991C>T	ClinVar
PRDM16	Q9HAZ2	p.Thr952Lys	rs749180764	missense variant	-	NC_000001.11:g.3417991C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr952Pro	rs1408159640	missense variant	-	NC_000001.11:g.3417990A>C	gnomAD
PRDM16	Q9HAZ2	p.Thr952Met	rs749180764	missense variant	-	NC_000001.11:g.3417991C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr952Lys	RCV000651667	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417991C>A	ClinVar
PRDM16	Q9HAZ2	p.Cys953SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3417994G>-	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg954Lys	COSM681083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3417997G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Ile959Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3418681T>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg962GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3418684_3418685insC	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg962Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3418691A>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Ala964Val	COSM908368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3418696C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Arg971Trp	COSM4031548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3418716A>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu976Asp	rs1390095177	missense variant	-	NC_000001.11:g.3418733G>C	gnomAD
PRDM16	Q9HAZ2	p.Lys982Glu	rs769504634	missense variant	-	NC_000001.11:g.3425585A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp985Asn	RCV000413640	missense variant	-	NC_000001.11:g.3425594G>A	ClinVar
PRDM16	Q9HAZ2	p.Asp985Asn	RCV000537999	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3425594G>A	ClinVar
PRDM16	Q9HAZ2	p.Asp985Asn	rs758565663	missense variant	-	NC_000001.11:g.3425594G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg986Cys	COSM1341888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425597C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Ser992Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3425616C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg996Gln	rs1287311513	missense variant	-	NC_000001.11:g.3425628G>A	gnomAD
PRDM16	Q9HAZ2	p.Val998Ile	rs144180800	missense variant	-	NC_000001.11:g.3425633G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val998Leu	rs144180800	missense variant	-	NC_000001.11:g.3425633G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg999Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3425636C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg999Gln	rs1356208771	missense variant	-	NC_000001.11:g.3425637G>A	gnomAD
PRDM16	Q9HAZ2	p.His1002Tyr	COSM3488253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425645C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro1007Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3425661C>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Phe1008Leu	COSM908381	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425665C>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Lys1009Arg	rs755243341	missense variant	-	NC_000001.11:g.3425667A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Cys1013Tyr	COSM908382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425679G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Asn1014His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3425681A>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Arg1015Ser	rs762494143	missense variant	-	NC_000001.11:g.3425684C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg1015His	rs758654133	missense variant	-	NC_000001.11:g.3425685G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg1015Cys	rs762494143	missense variant	-	NC_000001.11:g.3425684C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly1018Arg	COSM4392601	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425693G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Gln1020His	COSM908383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425701G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Arg1025Gln	rs1269754129	missense variant	-	NC_000001.11:g.3425715G>A	TOPMed
PRDM16	Q9HAZ2	p.Leu1027Phe	rs769306210	missense variant	-	NC_000001.11:g.3425720C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.His1030Tyr	rs749000028	missense variant	-	NC_000001.11:g.3425729C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu1031Lys	rs373883664	missense variant	-	NC_000001.11:g.3425732G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His1032Arg	COSM3984986	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425736A>G	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.His1032Leu	COSM4915111	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425736A>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu1033Lys	rs554867627	missense variant	-	NC_000001.11:g.3425738G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn1034His	rs1340399463	missense variant	-	NC_000001.11:g.3425741A>C	gnomAD
PRDM16	Q9HAZ2	p.Ala1035Val	rs1302024890	missense variant	-	NC_000001.11:g.3425745C>T	gnomAD
PRDM16	Q9HAZ2	p.Ala1035Ser	rs765394108	missense variant	-	NC_000001.11:g.3425744G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala1035Thr	rs765394108	missense variant	-	NC_000001.11:g.3425744G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro1036Leu	COSM376478	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425748C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Pro1036Ser	rs375442968	missense variant	-	NC_000001.11:g.3425747C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro1036Thr	rs375442968	missense variant	-	NC_000001.11:g.3425747C>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro1036Ser	RCV000519928	missense variant	-	NC_000001.11:g.3425747C>T	ClinVar
PRDM16	Q9HAZ2	p.His1040Gln	rs1324208264	missense variant	-	NC_000001.11:g.3426061C>A	gnomAD
PRDM16	Q9HAZ2	p.Gly1042Arg	RCV000651656	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426065G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly1042Arg	rs768620911	missense variant	-	NC_000001.11:g.3426065G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly1042Arg	RCV000490016	missense variant	-	NC_000001.11:g.3426065G>A	ClinVar
PRDM16	Q9HAZ2	p.Leu1044Phe	RCV000215790	missense variant	-	NC_000001.11:g.3426071C>T	ClinVar
PRDM16	Q9HAZ2	p.Leu1044Phe	rs187400273	missense variant	-	NC_000001.11:g.3426071C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu1044Phe	RCV000232612	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426071C>T	ClinVar
PRDM16	Q9HAZ2	p.Leu1044Pro	rs767844702	missense variant	-	NC_000001.11:g.3426072T>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr1045Met	rs750822944	missense variant	-	NC_000001.11:g.3426075C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asn1046Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3426079C>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Asn1046Tyr	rs1430503837	missense variant	-	NC_000001.11:g.3426077A>T	gnomAD
PRDM16	Q9HAZ2	p.His1047Asn	RCV000486279	missense variant	-	NC_000001.11:g.3426080C>A	ClinVar
PRDM16	Q9HAZ2	p.His1047Asn	rs766964168	missense variant	-	NC_000001.11:g.3426080C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.His1047Gln	rs754311746	missense variant	-	NC_000001.11:g.3426082C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu1048Pro	rs1347443850	missense variant	-	NC_000001.11:g.3426084T>C	gnomAD
PRDM16	Q9HAZ2	p.Gly1049Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3426086G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Ser1051Thr	rs778590995	missense variant	-	NC_000001.11:g.3426093G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala1052Thr	RCV000614337	missense variant	-	NC_000001.11:g.3426095G>A	ClinVar
PRDM16	Q9HAZ2	p.Ala1052Thr	rs113879347	missense variant	-	NC_000001.11:g.3426095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala1052Val	rs777706969	missense variant	-	NC_000001.11:g.3426096C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser1053Phe	rs770646516	missense variant	-	NC_000001.11:g.3426099C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser1054Cys	rs1302141824	missense variant	-	NC_000001.11:g.3426102C>G	TOPMed
PRDM16	Q9HAZ2	p.Pro1055Ser	rs368738819	missense variant	-	NC_000001.11:g.3426104C>T	ESP,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro1055Ala	rs368738819	missense variant	-	NC_000001.11:g.3426104C>G	ESP,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu1058Lys	rs768732515	missense variant	-	NC_000001.11:g.3426113G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser1059Leu	rs774463414	missense variant	-	NC_000001.11:g.3426117C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp1060Glu	rs772344270	missense variant	-	NC_000001.11:g.3426121C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn1061Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3426123A>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Asn1061Asp	rs773548976	missense variant	-	NC_000001.11:g.3426122A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asn1061Lys	rs761040406	missense variant	-	NC_000001.11:g.3426124C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala1063Thr	rs766687660	missense variant	-	NC_000001.11:g.3426128G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu1064Phe	rs777151088	missense variant	-	NC_000001.11:g.3426131C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu1065Ser	rs1410844593	missense variant	-	NC_000001.11:g.3426135T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1067Asp	rs752323177	missense variant	-	NC_000001.11:g.3426142G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu1067Lys	rs200946004	missense variant	-	NC_000001.11:g.3426140G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1067Lys	RCV000651658	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426140G>A	ClinVar
PRDM16	Q9HAZ2	p.Glu1069Gln	rs1423092285	missense variant	-	NC_000001.11:g.3426146G>C	gnomAD
PRDM16	Q9HAZ2	p.Asp1070Glu	COSM681080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3426151C>G	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Asp1070Tyr	rs867029514	missense variant	-	NC_000001.11:g.3426149G>T	gnomAD
PRDM16	Q9HAZ2	p.Asp1070Asn	rs867029514	missense variant	-	NC_000001.11:g.3426149G>A	gnomAD
PRDM16	Q9HAZ2	p.Ser1071Thr	rs561896892	missense variant	-	NC_000001.11:g.3426152T>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser1071Phe	rs751178142	missense variant	-	NC_000001.11:g.3426153C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Tyr1072Asp	rs1296197392	missense variant	-	NC_000001.11:g.3426155T>G	gnomAD
PRDM16	Q9HAZ2	p.Ser1074Leu	rs572178955	missense variant	-	NC_000001.11:g.3426162C>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1075Gly	rs1170003880	missense variant	-	NC_000001.11:g.3426165A>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ile1076Met	rs756085209	missense variant	-	NC_000001.11:g.3426169C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg1077Gly	rs1356695446	missense variant	-	NC_000001.11:g.3426170A>G	gnomAD
PRDM16	Q9HAZ2	p.Phe1079Cys	rs778955197	missense variant	-	NC_000001.11:g.3426177T>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ile1080Val	rs972780716	missense variant	-	NC_000001.11:g.3426179A>G	TOPMed
PRDM16	Q9HAZ2	p.Ala1081Asp	rs748281037	missense variant	-	NC_000001.11:g.3426183C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asn1082Ser	rs372177790	missense variant	-	NC_000001.11:g.3426186A>G	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser1083Asn	rs773415200	missense variant	-	NC_000001.11:g.3426189G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser1083Thr	rs773415200	missense variant	-	NC_000001.11:g.3426189G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1084Ter	COSM249346	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3426191G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Met1085Thr	rs747220506	missense variant	-	NC_000001.11:g.3426195T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Thr1090Lys	rs760088040	missense variant	-	NC_000001.11:g.3426210C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr1090Met	rs760088040	missense variant	-	NC_000001.11:g.3426210C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr1090Met	RCV000227583	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426210C>T	ClinVar
PRDM16	Q9HAZ2	p.Thr1090Ala	rs776903233	missense variant	-	NC_000001.11:g.3426209A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg1091Ter	COSM4443185	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3426212C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Arg1091Gln	rs564269453	missense variant	-	NC_000001.11:g.3426213G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg1091Pro	rs564269453	missense variant	-	NC_000001.11:g.3426213G>C	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr1092Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3426216C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Thr1092Arg	rs916449828	missense variant	-	NC_000001.11:g.3426216C>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr1092Lys	rs916449828	missense variant	-	NC_000001.11:g.3426216C>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Lys1094Arg	RCV000651661	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426222A>G	ClinVar
PRDM16	Q9HAZ2	p.Lys1094AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.3426220G>-	NCI-TCGA
PRDM16	Q9HAZ2	p.Lys1094Arg	rs947863770	missense variant	-	NC_000001.11:g.3426222A>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg1095Trp	RCV000521614	missense variant	-	NC_000001.11:g.3426224C>T	ClinVar
PRDM16	Q9HAZ2	p.Arg1095Gln	rs763726368	missense variant	-	NC_000001.11:g.3426225G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Arg1095Trp	rs201439415	missense variant	-	NC_000001.11:g.3426224C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg1095Trp	RCV000822475	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426224C>T	ClinVar
PRDM16	Q9HAZ2	p.Ala1096Val	rs753755785	missense variant	-	NC_000001.11:g.3430874C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala1096Thr	rs374562445	missense variant	-	NC_000001.11:g.3430873G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala1096Thr	RCV000651650	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3430873G>A	ClinVar
PRDM16	Q9HAZ2	p.Asp1097Tyr	rs1182175707	missense variant	-	NC_000001.11:g.3430876G>T	gnomAD
PRDM16	Q9HAZ2	p.Asp1097Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3430877A>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Asp1097Gly	rs777907752	missense variant	-	NC_000001.11:g.3430877A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Met1098Thr	RCV000658153	missense variant	-	NC_000001.11:g.3430880T>C	ClinVar
PRDM16	Q9HAZ2	p.Met1098Thr	rs1319675512	missense variant	-	NC_000001.11:g.3430880T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val1101Met	RCV000054521	missense variant	Dilated cardiomyopathy 1LL (CMD1LL)	NC_000001.11:g.3430888G>A	ClinVar
PRDM16	Q9HAZ2	p.Val1101Met	rs201654872	missense variant	-	NC_000001.11:g.3430888G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val1101Met	rs201654872	missense variant	-	NC_000001.11:g.3430888G>A	UniProt,dbSNP
PRDM16	Q9HAZ2	p.Val1101Met	VAR_070216	missense variant	-	NC_000001.11:g.3430888G>A	UniProt
PRDM16	Q9HAZ2	p.Asp1102Glu	rs199800219	missense variant	-	NC_000001.11:g.3430893C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly1103Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3430894G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Gly1103Ser	rs780612473	missense variant	-	NC_000001.11:g.3430894G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser1104Gly	rs749780250	missense variant	-	NC_000001.11:g.3430897A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser1104Asn	rs769109300	missense variant	-	NC_000001.11:g.3430898G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala1105Thr	rs1358863856	missense variant	-	NC_000001.11:g.3430900G>A	gnomAD
PRDM16	Q9HAZ2	p.Gln1106His	rs772809311	missense variant	-	NC_000001.11:g.3430905G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln1106Lys	rs771611814	missense variant	-	NC_000001.11:g.3430903C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Cys1107Tyr	rs1220618976	missense variant	-	NC_000001.11:g.3430907G>A	gnomAD
PRDM16	Q9HAZ2	p.Pro1108Leu	rs1466756635	missense variant	-	NC_000001.11:g.3430910C>T	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro1108Arg	rs1466756635	missense variant	-	NC_000001.11:g.3430910C>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly1109Ser	rs760371640	missense variant	-	NC_000001.11:g.3430912G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly1109Asp	rs1490794781	missense variant	-	NC_000001.11:g.3430913G>A	gnomAD
PRDM16	Q9HAZ2	p.Glu1113Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3430925A>G	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu1113Lys	rs765027640	missense variant	-	NC_000001.11:g.3430924G>A	ExAC
PRDM16	Q9HAZ2	p.Glu1116Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3430935G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu1116Gln	rs1159811184	missense variant	-	NC_000001.11:g.3430933G>C	gnomAD
PRDM16	Q9HAZ2	p.Glu1116Asp	rs1408154473	missense variant	-	NC_000001.11:g.3430935G>C	gnomAD
PRDM16	Q9HAZ2	p.Glu1116Lys	rs1159811184	missense variant	-	NC_000001.11:g.3430933G>A	gnomAD
PRDM16	Q9HAZ2	p.Asp1117Asn	rs752685996	missense variant	-	NC_000001.11:g.3430936G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Val1118Met	RCV000658373	missense variant	-	NC_000001.11:g.3430939G>A	ClinVar
PRDM16	Q9HAZ2	p.Val1118Met	RCV000699648	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3430939G>A	ClinVar
PRDM16	Q9HAZ2	p.Val1118Met	rs542279737	missense variant	-	NC_000001.11:g.3430939G>A	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val1118Leu	rs542279737	missense variant	-	NC_000001.11:g.3430939G>T	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1119Asp	rs756442796	missense variant	-	NC_000001.11:g.3430944G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu1119Lys	rs750650633	missense variant	-	NC_000001.11:g.3430942G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu1120Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3430945G>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu1121Asp	rs749724757	missense variant	-	NC_000001.11:g.3430950G>C	ExAC,TOPMed
PRDM16	Q9HAZ2	p.Glu1121Lys	rs780561119	missense variant	-	NC_000001.11:g.3430948G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp1122Gly	rs1197356969	missense variant	-	NC_000001.11:g.3430952A>G	TOPMed
PRDM16	Q9HAZ2	p.Asp1122Asn	rs1280641198	missense variant	-	NC_000001.11:g.3430951G>A	gnomAD
PRDM16	Q9HAZ2	p.Asp1123Glu	rs370420046	missense variant	-	NC_000001.11:g.3430956C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp1123Asn	rs779219975	missense variant	-	NC_000001.11:g.3430954G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp1124Asn	rs771432997	missense variant	-	NC_000001.11:g.3430957G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1127Gln	rs746661891	missense variant	-	NC_000001.11:g.3430966G>C	ExAC,TOPMed
PRDM16	Q9HAZ2	p.Glu1128Asp	rs770629291	missense variant	-	NC_000001.11:g.3430971G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp1129Tyr	rs776279865	missense variant	-	NC_000001.11:g.3430972G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp1129Tyr	RCV000651663	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3430972G>T	ClinVar
PRDM16	Q9HAZ2	p.Asp1130Tyr	rs759191119	missense variant	-	NC_000001.11:g.3430975G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Asp1132Glu	rs1233356790	missense variant	-	NC_000001.11:g.3430983C>G	gnomAD
PRDM16	Q9HAZ2	p.Asp1132Tyr	rs1385229525	missense variant	-	NC_000001.11:g.3430981G>T	TOPMed
PRDM16	Q9HAZ2	p.Ala1135Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3430991C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Gly1136Arg	RCV000552638	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3430993G>A	ClinVar
PRDM16	Q9HAZ2	p.Gly1136Arg	rs775245244	missense variant	-	NC_000001.11:g.3430993G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser1138Trp	COSM681079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3431000C>G	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Ser1138Leu	rs1386711962	missense variant	-	NC_000001.11:g.3431000C>T	gnomAD
PRDM16	Q9HAZ2	p.Gln1139Lys	rs767670839	missense variant	-	NC_000001.11:g.3431002C>A	ExAC
PRDM16	Q9HAZ2	p.Asp1140Tyr	rs1167554247	missense variant	-	NC_000001.11:g.3431005G>T	gnomAD
PRDM16	Q9HAZ2	p.Thr1142Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3431012C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Thr1142Ala	RCV000531783	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3431011A>G	ClinVar
PRDM16	Q9HAZ2	p.Thr1142Ala	rs1553180139	missense variant	-	NC_000001.11:g.3431011A>G	-
PRDM16	Q9HAZ2	p.Val1143Met	rs200515585	missense variant	-	NC_000001.11:g.3431014G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser1144Tyr	rs755257030	missense variant	-	NC_000001.11:g.3431018C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser1144Pro	rs754116170	missense variant	-	NC_000001.11:g.3431017T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala1146Thr	rs377255144	missense variant	-	NC_000001.11:g.3431023G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro1147Arg	rs997911754	missense variant	-	NC_000001.11:g.3431027C>G	gnomAD
PRDM16	Q9HAZ2	p.Glu1148Lys	RCV000460254	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3431029G>A	ClinVar
PRDM16	Q9HAZ2	p.Glu1148Lys	rs746465588	missense variant	-	NC_000001.11:g.3431029G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1148Gln	rs746465588	missense variant	-	NC_000001.11:g.3431029G>C	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro1149Arg	rs1273667977	missense variant	-	NC_000001.11:g.3431033C>G	gnomAD
PRDM16	Q9HAZ2	p.Pro1149Ser	rs1197311360	missense variant	-	NC_000001.11:g.3431032C>T	gnomAD
PRDM16	Q9HAZ2	p.Ala1151Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3431038G>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Ala1151Val	rs1189491241	missense variant	-	NC_000001.11:g.3431039C>T	gnomAD
PRDM16	Q9HAZ2	p.Ala1152Thr	RCV000473925	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3431041G>A	ClinVar
PRDM16	Q9HAZ2	p.Ala1152Thr	rs776229208	missense variant	-	NC_000001.11:g.3431041G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Tyr1153Cys	rs1444710484	missense variant	-	NC_000001.11:g.3431045A>G	gnomAD
PRDM16	Q9HAZ2	p.Glu1154Lys	rs999685090	missense variant	-	NC_000001.11:g.3431047G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1154Ala	rs527844629	missense variant	-	NC_000001.11:g.3431048A>C	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp1155Ala	rs958556928	missense variant	-	NC_000001.11:g.3431051A>C	gnomAD
PRDM16	Q9HAZ2	p.Glu1156Asp	rs1424554035	missense variant	-	NC_000001.11:g.3431055G>T	gnomAD
PRDM16	Q9HAZ2	p.Asp1158Tyr	rs769456683	missense variant	-	NC_000001.11:g.3431059G>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu1159Lys	rs1323196591	missense variant	-	NC_000001.11:g.3431062G>A	TOPMed
PRDM16	Q9HAZ2	p.Ala1163Thr	RCV000544263	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3431074G>A	ClinVar
PRDM16	Q9HAZ2	p.Ala1163Thr	rs747460948	missense variant	-	NC_000001.11:g.3431074G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala1163Ser	rs747460948	missense variant	-	NC_000001.11:g.3431074G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala1166Val	rs374387528	missense variant	-	NC_000001.11:g.3431084C>T	ESP,gnomAD
PRDM16	Q9HAZ2	p.Val1167Met	RCV000518975	missense variant	-	NC_000001.11:g.3431086G>A	ClinVar
PRDM16	Q9HAZ2	p.Val1167Met	rs1229345087	missense variant	-	NC_000001.11:g.3431086G>A	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly1168Ala	rs1322543390	missense variant	-	NC_000001.11:g.3431090G>C	gnomAD
PRDM16	Q9HAZ2	p.His1171Tyr	rs1264890876	missense variant	-	NC_000001.11:g.3431098C>T	gnomAD
PRDM16	Q9HAZ2	p.Arg1173Gln	rs370663882	missense variant	-	NC_000001.11:g.3431105G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Cys1175Tyr	rs752867498	missense variant	-	NC_000001.11:g.3431968G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His1179Arg	rs1210169174	missense variant	-	NC_000001.11:g.3431980A>G	TOPMed
PRDM16	Q9HAZ2	p.Glu1180Ter	COSM3789906	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3431982G>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu1180Asp	rs764468276	missense variant	-	NC_000001.11:g.3431984A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu1180Lys	rs763267613	missense variant	-	NC_000001.11:g.3431982G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gly1181Ser	rs1318242357	missense variant	-	NC_000001.11:g.3431985G>A	gnomAD
PRDM16	Q9HAZ2	p.Gly1182Asp	rs1290609760	missense variant	-	NC_000001.11:g.3431989G>A	gnomAD
PRDM16	Q9HAZ2	p.Gly1182Ser	rs201703870	missense variant	-	NC_000001.11:g.3431988G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1187Ala	rs780559889	missense variant	-	NC_000001.11:g.3432004A>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro1188Leu	rs572604983	missense variant	-	NC_000001.11:g.3432007C>T	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Met1189Ile	rs1480507302	missense variant	-	NC_000001.11:g.3432011G>A	gnomAD
PRDM16	Q9HAZ2	p.Pro1190Leu	rs755588843	missense variant	-	NC_000001.11:g.3432013C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr1191Ser	rs1419767711	missense variant	-	NC_000001.11:g.3432015A>T	gnomAD
PRDM16	Q9HAZ2	p.Lys1194Glu	rs748925025	missense variant	-	NC_000001.11:g.3432024A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly1195Glu	rs1345263417	missense variant	-	NC_000001.11:g.3432028G>A	TOPMed
PRDM16	Q9HAZ2	p.Asp1197Asn	COSM1341895	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3432033G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Asp1197Gly	rs1426727129	missense variant	-	NC_000001.11:g.3432034A>G	gnomAD
PRDM16	Q9HAZ2	p.Leu1198Ile	rs778899500	missense variant	-	NC_000001.11:g.3432036C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg1199His	rs772196588	missense variant	-	NC_000001.11:g.3432040G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg1199Leu	rs772196588	missense variant	-	NC_000001.11:g.3432040G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg1199Cys	RCV000545185	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3432039C>T	ClinVar
PRDM16	Q9HAZ2	p.Arg1199Cys	rs376762015	missense variant	-	NC_000001.11:g.3432039C>T	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Arg1200Gly	rs773038317	missense variant	-	NC_000001.11:g.3432042A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Glu1203Lys	COSM3689612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3432051G>A	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu1204Lys	rs1387666515	missense variant	-	NC_000001.11:g.3432054G>A	TOPMed
PRDM16	Q9HAZ2	p.Ala1205Val	COSM3488260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3432058C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Ala1205Gly	rs1306089023	missense variant	-	NC_000001.11:g.3432058C>G	TOPMed
PRDM16	Q9HAZ2	p.Phe1206Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3432061T>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Phe1206Leu	rs1446926243	missense variant	-	NC_000001.11:g.3432060T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1207Asp	rs199972068	missense variant	-	NC_000001.11:g.3432065A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1207Asp	RCV000234393	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3432065A>T	ClinVar
PRDM16	Q9HAZ2	p.Glu1207Asp	RCV000616533	missense variant	-	NC_000001.11:g.3432065A>T	ClinVar
PRDM16	Q9HAZ2	p.Val1208Ala	rs578095108	missense variant	-	NC_000001.11:g.3432067T>C	1000Genomes,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asp1210His	rs372241788	missense variant	-	NC_000001.11:g.3432072G>C	ESP,TOPMed
PRDM16	Q9HAZ2	p.Val1211Met	rs376835158	missense variant	-	NC_000001.11:g.3432075G>A	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Val1211Ala	rs1202803491	missense variant	-	NC_000001.11:g.3432076T>C	gnomAD
PRDM16	Q9HAZ2	p.Leu1212Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3432078C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Ser1214Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3432085C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Thr1215Ala	rs957333595	missense variant	-	NC_000001.11:g.3432087A>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ser1218Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3432097C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Glu1219Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3432099G>C	NCI-TCGA
PRDM16	Q9HAZ2	p.Ala1220Thr	rs764414998	missense variant	-	NC_000001.11:g.3432102G>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.His1223Tyr	rs1485523092	missense variant	-	NC_000001.11:g.3432111C>T	TOPMed
PRDM16	Q9HAZ2	p.Thr1224Ala	rs751991022	missense variant	-	NC_000001.11:g.3432114A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu1225Pro	rs768006911	missense variant	-	NC_000001.11:g.3432118T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu1225Val	rs762291683	missense variant	-	NC_000001.11:g.3432117C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Cys1226Ter	rs755610068	stop gained	-	NC_000001.11:g.3432122C>A	ExAC
PRDM16	Q9HAZ2	p.Cys1226Arg	rs1254675082	missense variant	-	NC_000001.11:g.3432120T>C	TOPMed
PRDM16	Q9HAZ2	p.Arg1227Lys	rs765828521	missense variant	-	NC_000001.11:g.3432124G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Gln1228His	rs753516768	missense variant	-	NC_000001.11:g.3432128G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln1232Arg	rs747895035	missense variant	-	NC_000001.11:g.3432139A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln1232Glu	rs778840101	missense variant	-	NC_000001.11:g.3432138C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ala1233Pro	rs1372477178	missense variant	-	NC_000001.11:g.3433677G>C	TOPMed
PRDM16	Q9HAZ2	p.Tyr1234His	rs1283581276	missense variant	-	NC_000001.11:g.3433680T>C	gnomAD
PRDM16	Q9HAZ2	p.Ala1235Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3433684C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Met1236Ile	rs550550637	missense variant	-	NC_000001.11:g.3433688G>A	gnomAD
PRDM16	Q9HAZ2	p.Met1237Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3433691G>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Ser1241Phe	COSM3488264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3433702C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Glu1242Lys	rs772460000	missense variant	-	NC_000001.11:g.3433704G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr1244Ala	rs773488297	missense variant	-	NC_000001.11:g.3433710A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro1245His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3433714C>A	NCI-TCGA
PRDM16	Q9HAZ2	p.Pro1245Ser	rs761238816	missense variant	-	NC_000001.11:g.3433713C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.His1247Tyr	COSM3488265	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3433719C>T	NCI-TCGA Cosmic
PRDM16	Q9HAZ2	p.Thr1248Ala	rs777283850	missense variant	-	NC_000001.11:g.3433722A>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Thr1248Asn	rs759077270	missense variant	-	NC_000001.11:g.3433723C>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr1248Ser	rs759077270	missense variant	-	NC_000001.11:g.3433723C>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro1249Arg	rs764863295	missense variant	-	NC_000001.11:g.3433726C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro1249Leu	rs764863295	missense variant	-	NC_000001.11:g.3433726C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser1250Thr	rs1553180663	missense variant	-	NC_000001.11:g.3433728T>A	-
PRDM16	Q9HAZ2	p.Ser1250Thr	RCV000651664	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3433728T>A	ClinVar
PRDM16	Q9HAZ2	p.Gln1251Ter	rs763948929	stop gained	-	NC_000001.11:g.3433731C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gln1251Pro	rs1301606085	missense variant	-	NC_000001.11:g.3433732A>C	gnomAD
PRDM16	Q9HAZ2	p.Gly1252Arg	rs1437881844	missense variant	-	NC_000001.11:g.3433734G>C	gnomAD
PRDM16	Q9HAZ2	p.Ser1253Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.3433738C>T	NCI-TCGA
PRDM16	Q9HAZ2	p.Ser1253Pro	rs903199574	missense variant	-	NC_000001.11:g.3433737T>C	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Leu1254Pro	rs367785185	missense variant	-	NC_000001.11:g.3433741T>C	ESP,ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala1256Val	rs1289394464	missense variant	-	NC_000001.11:g.3433747C>T	gnomAD
PRDM16	Q9HAZ2	p.Ala1256Thr	rs750388478	missense variant	-	NC_000001.11:g.3433746G>A	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Ala1256Ser	rs750388478	missense variant	-	NC_000001.11:g.3433746G>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Lys1259Asn	rs779012456	missense variant	-	NC_000001.11:g.3433757G>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Gly1262Val	rs1443520832	missense variant	-	NC_000001.11:g.3433765G>T	TOPMed
PRDM16	Q9HAZ2	p.Thr1264Ala	rs772246949	missense variant	-	NC_000001.11:g.3433770A>G	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Thr1264Met	rs778185431	missense variant	-	NC_000001.11:g.3433771C>T	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser1265Leu	rs771454903	missense variant	-	NC_000001.11:g.3433774C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Glu1266Lys	rs1328798528	missense variant	-	NC_000001.11:g.3433776G>A	gnomAD
PRDM16	Q9HAZ2	p.Glu1266Gly	rs182452331	missense variant	-	NC_000001.11:g.3433777A>G	1000Genomes,ExAC,gnomAD
PRDM16	Q9HAZ2	p.Ser1267Cys	rs1309992162	missense variant	-	NC_000001.11:g.3433780C>G	gnomAD
PRDM16	Q9HAZ2	p.Gly1268Glu	rs1382106122	missense variant	-	NC_000001.11:g.3433783G>A	gnomAD
PRDM16	Q9HAZ2	p.Ala1269Thr	rs1283509889	missense variant	-	NC_000001.11:g.3433785G>A	gnomAD
PRDM16	Q9HAZ2	p.Phe1270Ser	rs769401771	missense variant	-	NC_000001.11:g.3433789T>C	ExAC,gnomAD
PRDM16	Q9HAZ2	p.His1271Gln	rs762656688	missense variant	-	NC_000001.11:g.3433793C>A	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Pro1272Ser	rs751226604	missense variant	-	NC_000001.11:g.3433794C>T	ExAC,TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Pro1272Arg	rs1272247581	missense variant	-	NC_000001.11:g.3433795C>G	TOPMed,gnomAD
PRDM16	Q9HAZ2	p.Asn1274Ser	RCV000604520	missense variant	-	NC_000001.11:g.3433801A>G	ClinVar
PRDM16	Q9HAZ2	p.Asn1274Asp	rs1379723348	missense variant	-	NC_000001.11:g.3433800A>G	gnomAD
PRDM16	Q9HAZ2	p.Asn1274Ser	rs1553180695	missense variant	-	NC_000001.11:g.3433801A>G	-
PRDM16	Q9HAZ2	p.Leu1276Val	rs767318547	missense variant	-	NC_000001.11:g.3433806C>G	ExAC,gnomAD
PRDM16	Q9HAZ2	p.Leu1276Phe	rs767318547	missense variant	-	NC_000001.11:g.3433806C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser2Asn	rs750480116	missense variant	-	NC_000002.12:g.217897961C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val3Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217897959C>T	NCI-TCGA
TNS1	Q9HBL0	p.Val3Glu	rs369050860	missense variant	-	NC_000002.12:g.217897958A>T	ESP,ExAC,gnomAD
TNS1	Q9HBL0	p.Arg5Trp	rs756457554	missense variant	-	NC_000002.12:g.217897953G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg5Gln	rs751675580	missense variant	-	NC_000002.12:g.217897952C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr6Ala	rs113181713	missense variant	-	NC_000002.12:g.217897950T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met7Leu	rs763189901	missense variant	-	NC_000002.12:g.217897947T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Met7Ile	rs1278055759	missense variant	-	NC_000002.12:g.217897945C>T	gnomAD
TNS1	Q9HBL0	p.Asp9Glu	rs781413984	missense variant	-	NC_000002.12:g.217897939G>C	ExAC,TOPMed
TNS1	Q9HBL0	p.Ser10Asn	rs893931687	missense variant	-	NC_000002.12:g.217897937C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Cys11Ser	rs1351782914	missense variant	-	NC_000002.12:g.217897934C>G	TOPMed
TNS1	Q9HBL0	p.Cys11Arg	COSM4091386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217897935A>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Leu15Arg	rs776272908	missense variant	-	NC_000002.12:g.217897922A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Val16Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217897920C>A	NCI-TCGA
TNS1	Q9HBL0	p.Val16Gly	rs746669289	missense variant	-	NC_000002.12:g.217897919A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Val16Leu	rs770495832	missense variant	-	NC_000002.12:g.217897920C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr17His	rs1227606667	missense variant	-	NC_000002.12:g.217897917A>G	gnomAD
TNS1	Q9HBL0	p.Val18Ile	rs147171878	missense variant	-	NC_000002.12:g.217897914C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr19Ile	rs1462649785	missense variant	-	NC_000002.12:g.217897910G>A	gnomAD
TNS1	Q9HBL0	p.Thr19Ala	rs1293160895	missense variant	-	NC_000002.12:g.217897911T>C	gnomAD
TNS1	Q9HBL0	p.Arg21Met	rs1258111069	missense variant	-	NC_000002.12:g.217897904C>A	TOPMed
TNS1	Q9HBL0	p.Arg21Thr	rs1258111069	missense variant	-	NC_000002.12:g.217897904C>G	TOPMed
TNS1	Q9HBL0	p.Ile22Met	rs1401373721	missense variant	-	NC_000002.12:g.217897900G>C	gnomAD
TNS1	Q9HBL0	p.Ile23Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217897897G>C	NCI-TCGA
TNS1	Q9HBL0	p.Ala24Ser	rs754895922	missense variant	-	NC_000002.12:g.217897896C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Val25Leu	rs41272679	missense variant	-	NC_000002.12:g.217897893C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val25Ile	rs41272679	missense variant	-	NC_000002.12:g.217897893C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser26Phe	rs781264279	missense variant	-	NC_000002.12:g.217897889G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala31Thr	rs751840566	missense variant	-	NC_000002.12:g.217897875C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala31Val	rs764193980	missense variant	-	NC_000002.12:g.217897874G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn32Lys	rs149429283	missense variant	-	NC_000002.12:g.217897870A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn32Ser	rs376836561	missense variant	-	NC_000002.12:g.217897871T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu34Gly	rs777218106	missense variant	-	NC_000002.12:g.217897865T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu34Asp	rs1329444969	missense variant	-	NC_000002.12:g.217897864C>A	gnomAD
TNS1	Q9HBL0	p.Arg37Gln	rs772956909	missense variant	-	NC_000002.12:g.217897856C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg37Pro	rs772956909	missense variant	-	NC_000002.12:g.217897856C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg37Trp	rs145099703	missense variant	-	NC_000002.12:g.217897857G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser38Asn	rs1461343953	missense variant	-	NC_000002.12:g.217897853C>T	TOPMed
TNS1	Q9HBL0	p.Arg41Cys	rs377270295	missense variant	-	NC_000002.12:g.217897845G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg41His	rs774021860	missense variant	-	NC_000002.12:g.217897844C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu42Asp	rs1464950790	missense variant	-	NC_000002.12:g.217897840C>G	gnomAD
TNS1	Q9HBL0	p.Ala44Gly	rs189245696	missense variant	-	NC_000002.12:g.217897835G>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala44Thr	rs749246801	missense variant	-	NC_000002.12:g.217897836C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala44Val	rs189245696	missense variant	-	NC_000002.12:g.217897835G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln45His	rs747040632	missense variant	-	NC_000002.12:g.217897831C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln45His	rs747040632	missense variant	-	NC_000002.12:g.217897831C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met46Val	rs201362490	missense variant	-	NC_000002.12:g.217897830T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu47Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217897827G>A	NCI-TCGA
TNS1	Q9HBL0	p.Lys48Glu	rs1485876389	missense variant	-	NC_000002.12:g.217897824T>C	gnomAD
TNS1	Q9HBL0	p.Ser49Tyr	COSM1016276	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217897820G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.His51Arg	rs767046731	missense variant	-	NC_000002.12:g.217897814T>C	gnomAD
TNS1	Q9HBL0	p.Leu56Arg	rs148888599	missense variant	-	NC_000002.12:g.217897799A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn59Thr	rs747185017	missense variant	-	NC_000002.12:g.217895049T>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn59Ile	rs747185017	missense variant	-	NC_000002.12:g.217895049T>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn59Ser	rs747185017	missense variant	-	NC_000002.12:g.217895049T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu60Val	rs550206581	missense variant	-	NC_000002.12:g.217895047G>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu60Phe	rs550206581	missense variant	-	NC_000002.12:g.217895047G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu62Lys	rs1437846426	missense variant	-	NC_000002.12:g.217895041C>T	gnomAD
TNS1	Q9HBL0	p.Arg63Trp	rs748336747	missense variant	-	NC_000002.12:g.217895038G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg63Gln	rs571848557	missense variant	-	NC_000002.12:g.217895037C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg64Ile	rs141417657	missense variant	-	NC_000002.12:g.217895034C>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro65Leu	rs1161080632	missense variant	-	NC_000002.12:g.217895031G>A	gnomAD
TNS1	Q9HBL0	p.Pro65Thr	rs368029360	missense variant	-	NC_000002.12:g.217895032G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro65Ser	rs368029360	missense variant	-	NC_000002.12:g.217895032G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp66Val	rs780765634	missense variant	-	NC_000002.12:g.217895028T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr68Met	rs140507959	missense variant	-	NC_000002.12:g.217895022G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys69Gln	rs766958267	missense variant	-	NC_000002.12:g.217895020T>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu70Phe	rs761345158	missense variant	-	NC_000002.12:g.217895017G>A	ExAC
TNS1	Q9HBL0	p.His71Arg	rs1452236087	missense variant	-	NC_000002.12:g.217895013T>C	gnomAD
TNS1	Q9HBL0	p.His71Tyr	rs1208238793	missense variant	-	NC_000002.12:g.217895014G>A	gnomAD
TNS1	Q9HBL0	p.Lys73Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217895006C>A	NCI-TCGA
TNS1	Q9HBL0	p.Val74Gly	rs781701170	missense variant	-	NC_000002.12:g.217893560A>C	ExAC
TNS1	Q9HBL0	p.Leu75Gln	rs756764081	missense variant	-	NC_000002.12:g.217893557A>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu75Pro	rs756764081	missense variant	-	NC_000002.12:g.217893557A>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly78Ser	rs1336032074	missense variant	-	NC_000002.12:g.217893549C>T	gnomAD
TNS1	Q9HBL0	p.Gly78Asp	rs1309456584	missense variant	-	NC_000002.12:g.217893548C>T	gnomAD
TNS1	Q9HBL0	p.Asp81Asn	rs372578005	missense variant	-	NC_000002.12:g.217893540C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu82Phe	rs758046312	missense variant	-	NC_000002.12:g.217893537G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu82Arg	rs752284144	missense variant	-	NC_000002.12:g.217893536A>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His83Tyr	rs764968136	missense variant	-	NC_000002.12:g.217893534G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr84Asn	rs1252898284	missense variant	-	NC_000002.12:g.217893530G>T	gnomAD
TNS1	Q9HBL0	p.Ile90Phe	rs202181466	missense variant	-	NC_000002.12:g.217893513T>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser92Ile	rs1211476074	missense variant	-	NC_000002.12:g.217893506C>A	gnomAD
TNS1	Q9HBL0	p.Cys94Ser	rs1314506236	missense variant	-	NC_000002.12:g.217893500C>G	gnomAD
TNS1	Q9HBL0	p.Met97Ile	rs774569280	missense variant	-	NC_000002.12:g.217893490C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met97Val	rs370956506	missense variant	-	NC_000002.12:g.217893492T>C	ESP,ExAC,gnomAD
TNS1	Q9HBL0	p.Met97Thr	rs1218188877	missense variant	-	NC_000002.12:g.217893491A>G	gnomAD
TNS1	Q9HBL0	p.Met97Ile	rs774569280	missense variant	-	NC_000002.12:g.217893490C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr99Ala	rs768789067	missense variant	-	NC_000002.12:g.217893486T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu101Phe	rs775740128	missense variant	-	NC_000002.12:g.217893480G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn102His	rs61745748	missense variant	-	NC_000002.12:g.217893477T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn102Lys	rs757753900	missense variant	-	NC_000002.12:g.217893475A>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn102Ser	rs773471674	missense variant	-	NC_000002.12:g.217893476T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala103Gly	rs747446380	missense variant	-	NC_000002.12:g.217893473G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala103Val	rs747446380	missense variant	-	NC_000002.12:g.217893473G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro105Leu	rs1413984557	missense variant	-	NC_000002.12:g.217893467G>A	gnomAD
TNS1	Q9HBL0	p.His106Asn	rs777274496	missense variant	-	NC_000002.12:g.217893465G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn107Ser	rs1161678934	missense variant	-	NC_000002.12:g.217893461T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn107Lys	rs1471710889	missense variant	-	NC_000002.12:g.217893460A>C	gnomAD
TNS1	Q9HBL0	p.Val108Ile	rs757859898	missense variant	-	NC_000002.12:g.217893459C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val109Ile	rs149902330	missense variant	-	NC_000002.12:g.217893456C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val110Ala	rs201232473	missense variant	-	NC_000002.12:g.217893452A>G	1000Genomes
TNS1	Q9HBL0	p.His112Tyr	rs1287607852	missense variant	-	NC_000002.12:g.217893447G>A	TOPMed
TNS1	Q9HBL0	p.Asn113Asp	rs1356455139	missense variant	-	NC_000002.12:g.217893444T>C	TOPMed
TNS1	Q9HBL0	p.Arg117Gln	rs750425819	missense variant	-	NC_000002.12:g.217893005C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg119Lys	rs767538088	missense variant	-	NC_000002.12:g.217892999C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala125Val	rs377519321	missense variant	-	NC_000002.12:g.217892981G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala125Thr	rs375621959	missense variant	-	NC_000002.12:g.217892982C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met128Val	rs772557705	missense variant	-	NC_000002.12:g.217892973T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met128Leu	rs772557705	missense variant	-	NC_000002.12:g.217892973T>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met128Ile	rs747680997	missense variant	-	NC_000002.12:g.217892971C>T	ExAC
TNS1	Q9HBL0	p.His129Gln	rs1382379186	missense variant	-	NC_000002.12:g.217892968G>C	TOPMed
TNS1	Q9HBL0	p.His129Asn	rs778492034	missense variant	-	NC_000002.12:g.217892970G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.His129Pro	rs1342144807	missense variant	-	NC_000002.12:g.217892969T>G	TOPMed
TNS1	Q9HBL0	p.His129Tyr	COSM3577601	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217892970G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser131Gly	rs1381015686	missense variant	-	NC_000002.12:g.217892964T>C	gnomAD
TNS1	Q9HBL0	p.Ser131Asn	rs1459592869	missense variant	-	NC_000002.12:g.217892963C>T	gnomAD
TNS1	Q9HBL0	p.Ser131Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217892963C>A	NCI-TCGA
TNS1	Q9HBL0	p.Asn132Lys	rs150712479	missense variant	-	NC_000002.12:g.217892959G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn132Ser	rs1311598174	missense variant	-	NC_000002.12:g.217892960T>C	TOPMed
TNS1	Q9HBL0	p.Ala135Thr	rs748993471	missense variant	-	NC_000002.12:g.217892952C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala137Glu	rs191273706	missense variant	-	NC_000002.12:g.217891043G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala137Val	rs191273706	missense variant	-	NC_000002.12:g.217891043G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln139Lys	rs753904767	missense variant	-	NC_000002.12:g.217891038G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln139Glu	rs753904767	missense variant	-	NC_000002.12:g.217891038G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp142Asn	rs1345676729	missense variant	-	NC_000002.12:g.217891029C>T	gnomAD
TNS1	Q9HBL0	p.Arg143Trp	rs1235601145	missense variant	-	NC_000002.12:g.217891026G>A	gnomAD
TNS1	Q9HBL0	p.Arg143Gln	rs756335612	missense variant	-	NC_000002.12:g.217891025C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg143Leu	rs756335612	missense variant	-	NC_000002.12:g.217891025C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala145Val	rs1282902005	missense variant	-	NC_000002.12:g.217891019G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Met146Arg	rs1412037272	missense variant	-	NC_000002.12:g.217891016A>C	gnomAD
TNS1	Q9HBL0	p.Lys147Arg	rs1410617832	missense variant	-	NC_000002.12:g.217891013T>C	gnomAD
TNS1	Q9HBL0	p.Arg148Gln	rs975239010	missense variant	-	NC_000002.12:g.217891010C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg148Trp	rs750588464	missense variant	-	NC_000002.12:g.217891011G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr150Cys	rs375272427	missense variant	-	NC_000002.12:g.217891004T>C	ESP,TOPMed
TNS1	Q9HBL0	p.Glu151Lys	rs767947576	missense variant	-	NC_000002.12:g.217891002C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu151Gly	rs762044577	missense variant	-	NC_000002.12:g.217891001T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp152His	rs774970842	missense variant	-	NC_000002.12:g.217890999C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp152Tyr	rs774970842	missense variant	-	NC_000002.12:g.217890999C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro156Ala	rs764494567	missense variant	-	NC_000002.12:g.217890987G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro156Ser	rs764494567	missense variant	-	NC_000002.12:g.217890987G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly158Ser	rs775143453	missense variant	-	NC_000002.12:g.217890981C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln159His	rs1409267340	missense variant	-	NC_000002.12:g.217890976C>G	gnomAD
TNS1	Q9HBL0	p.Gln159Arg	rs965169426	missense variant	-	NC_000002.12:g.217890977T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg163Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217890965C>A	NCI-TCGA
TNS1	Q9HBL0	p.Val166Met	rs759083211	missense variant	-	NC_000002.12:g.217886642C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr168Cys	rs1378809326	missense variant	-	NC_000002.12:g.217886635T>C	TOPMed
TNS1	Q9HBL0	p.Phe169Leu	rs1310293483	missense variant	-	NC_000002.12:g.217886633A>G	gnomAD
TNS1	Q9HBL0	p.Ser170Asn	rs1357521800	missense variant	-	NC_000002.12:g.217886629C>T	gnomAD
TNS1	Q9HBL0	p.Leu173Phe	rs1243026974	missense variant	-	NC_000002.12:g.217886621G>A	gnomAD
TNS1	Q9HBL0	p.Ser174Cys	rs142909946	missense variant	-	NC_000002.12:g.217886617G>C	ESP,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly175Arg	rs191961315	missense variant	-	NC_000002.12:g.217886615C>G	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly175Ser	rs191961315	missense variant	-	NC_000002.12:g.217886615C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser176Phe	rs1317230547	missense variant	-	NC_000002.12:g.217886611G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Met179Ile	rs771844409	missense variant	-	NC_000002.12:g.217886601C>A	ExAC
TNS1	Q9HBL0	p.Asn180Asp	rs201748801	missense variant	-	NC_000002.12:g.217886600T>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn180Ser	rs778781637	missense variant	-	NC_000002.12:g.217886599T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro183Leu	rs1390784182	missense variant	-	NC_000002.12:g.217886590G>A	gnomAD
TNS1	Q9HBL0	p.Pro183Ser	rs1293649446	missense variant	-	NC_000002.12:g.217886591G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.His187Tyr	rs555681856	missense variant	-	NC_000002.12:g.217886579G>A	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.His187Leu	rs781544708	missense variant	-	NC_000002.12:g.217886578T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.His188Arg	rs1326802496	missense variant	-	NC_000002.12:g.217886575T>C	TOPMed
TNS1	Q9HBL0	p.Val189Met	rs200738017	missense variant	-	NC_000002.12:g.217886573C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met191Ile	COSM4091382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217886565C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.His192Tyr	rs1220792311	missense variant	-	NC_000002.12:g.217886564G>A	gnomAD
TNS1	Q9HBL0	p.Gly193Ser	rs576154784	missense variant	-	NC_000002.12:g.217886561C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly193Asp	rs1231197789	missense variant	-	NC_000002.12:g.217886560C>T	gnomAD
TNS1	Q9HBL0	p.Asn196Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217886552T>A	NCI-TCGA
TNS1	Q9HBL0	p.Asn196Ser	rs201601193	missense variant	-	NC_000002.12:g.217886551T>C	1000Genomes,gnomAD
TNS1	Q9HBL0	p.Asn196His	rs945485383	missense variant	-	NC_000002.12:g.217886552T>G	gnomAD
TNS1	Q9HBL0	p.Phe197Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217886549A>G	NCI-TCGA
TNS1	Q9HBL0	p.Phe197Ile	rs753292394	missense variant	-	NC_000002.12:g.217886549A>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser199Cys	rs1404116595	missense variant	-	NC_000002.12:g.217886542G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser199Pro	rs1321173766	missense variant	-	NC_000002.12:g.217886543A>G	gnomAD
TNS1	Q9HBL0	p.Lys200Glu	rs1426256530	missense variant	-	NC_000002.12:g.217886540T>C	gnomAD
TNS1	Q9HBL0	p.Gly201Ter	rs765813349	stop gained	-	NC_000002.12:g.217886537C>A	ExAC
TNS1	Q9HBL0	p.Gly202Ala	rs1479860678	missense variant	-	NC_000002.12:g.217886104C>G	gnomAD
TNS1	Q9HBL0	p.Arg204Gln	rs753102119	missense variant	-	NC_000002.12:g.217886098C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg204Trp	rs758879835	missense variant	-	NC_000002.12:g.217886099G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro205Leu	rs892568680	missense variant	-	NC_000002.12:g.217886095G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu207Phe	rs1202449340	missense variant	-	NC_000002.12:g.217886090G>A	gnomAD
TNS1	Q9HBL0	p.Leu207Ile	rs1202449340	missense variant	-	NC_000002.12:g.217886090G>T	gnomAD
TNS1	Q9HBL0	p.Arg208His	rs374787049	missense variant	-	NC_000002.12:g.217886086C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg208Leu	rs374787049	missense variant	-	NC_000002.12:g.217886086C>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg208Gly	rs755548915	missense variant	-	NC_000002.12:g.217886087G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg208Cys	rs755548915	missense variant	-	NC_000002.12:g.217886087G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln211Arg	rs760194256	missense variant	-	NC_000002.12:g.217886077T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala212Thr	rs750083622	missense variant	-	NC_000002.12:g.217886075C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Met213Ile	rs767134868	missense variant	-	NC_000002.12:g.217886070C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln214Lys	rs761663219	missense variant	-	NC_000002.12:g.217886069G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro215Ser	rs774136808	missense variant	-	NC_000002.12:g.217886066G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Val216Leu	rs762819345	missense variant	-	NC_000002.12:g.217886063C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Val216Met	rs762819345	missense variant	-	NC_000002.12:g.217886063C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ile221Val	rs1161561420	missense variant	-	NC_000002.12:g.217886048T>C	gnomAD
TNS1	Q9HBL0	p.Tyr222His	rs1235648399	missense variant	-	NC_000002.12:g.217886045A>G	TOPMed
TNS1	Q9HBL0	p.Asn223Ser	rs1173492053	missense variant	-	NC_000002.12:g.217885817T>C	TOPMed
TNS1	Q9HBL0	p.Ile224Asn	rs758410042	missense variant	-	NC_000002.12:g.217885814A>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro225Leu	rs748406747	missense variant	-	NC_000002.12:g.217885811G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp227Asn	rs139691939	missense variant	-	NC_000002.12:g.217885806C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser228Arg	rs768941842	missense variant	-	NC_000002.12:g.217885801G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln229Pro	rs749643848	missense variant	-	NC_000002.12:g.217885799T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser231Gly	rs1405152440	missense variant	-	NC_000002.12:g.217885794T>C	TOPMed
TNS1	Q9HBL0	p.Val232Ile	rs756647969	missense variant	-	NC_000002.12:g.217885791C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Cys233Tyr	rs1380582040	missense variant	-	NC_000002.12:g.217885787C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Cys233Ter	rs1361598773	stop gained	-	NC_000002.12:g.217885786G>T	gnomAD
TNS1	Q9HBL0	p.Cys233Phe	rs1380582040	missense variant	-	NC_000002.12:g.217885787C>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ile234Leu	rs1294330454	missense variant	-	NC_000002.12:g.217885785T>G	gnomAD
TNS1	Q9HBL0	p.Ile236Thr	rs1277691491	missense variant	-	NC_000002.12:g.217885778A>G	TOPMed
TNS1	Q9HBL0	p.Ile236Val	COSM4924397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885779T>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Glu237Lys	rs370385101	missense variant	-	NC_000002.12:g.217885776C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly239AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217885769C>-	NCI-TCGA
TNS1	Q9HBL0	p.Gly239Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217885769C>T	NCI-TCGA
TNS1	Q9HBL0	p.Gly239Arg	rs1392547263	missense variant	-	NC_000002.12:g.217885770C>G	gnomAD
TNS1	Q9HBL0	p.Asp245Tyr	COSM285861	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885752C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Leu248Arg	rs933698605	missense variant	-	NC_000002.12:g.217885163A>C	TOPMed
TNS1	Q9HBL0	p.Lys249Asn	COSM4947512	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885159C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Tyr251Cys	rs1195093827	missense variant	-	NC_000002.12:g.217885154T>C	gnomAD
TNS1	Q9HBL0	p.His252Asp	rs1480359970	missense variant	-	NC_000002.12:g.217885152G>C	gnomAD
TNS1	Q9HBL0	p.Phe255Leu	rs746404544	missense variant	-	NC_000002.12:g.217885141G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg256Gln	rs142353294	missense variant	-	NC_000002.12:g.217885139C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg256Ter	rs1239751518	stop gained	-	NC_000002.12:g.217885140G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser257Gly	rs770473907	missense variant	-	NC_000002.12:g.217885137T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala259Thr	rs746506634	missense variant	-	NC_000002.12:g.217885131C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg260Gln	rs61737669	missense variant	-	NC_000002.12:g.217885127C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg260Pro	rs61737669	missense variant	-	NC_000002.12:g.217885127C>G	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg260Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217885128G>C	NCI-TCGA
TNS1	Q9HBL0	p.Arg260Ter	COSM5480438	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217885128G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Asp261Glu	rs371594517	missense variant	-	NC_000002.12:g.217885123G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val262Ile	rs1391282849	missense variant	-	NC_000002.12:g.217885122C>T	gnomAD
TNS1	Q9HBL0	p.Ile263Met	rs754692105	missense variant	-	NC_000002.12:g.217885117G>C	ExAC
TNS1	Q9HBL0	p.Arg265Cys	rs766397293	missense variant	-	NC_000002.12:g.217885113G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg265Gly	rs766397293	missense variant	-	NC_000002.12:g.217885113G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg265His	rs762043344	missense variant	-	NC_000002.12:g.217885112C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala272Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217885091G>A	NCI-TCGA
TNS1	Q9HBL0	p.Ile273Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217885088A>T	NCI-TCGA
TNS1	Q9HBL0	p.Gly277Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217885077C>T	NCI-TCGA
TNS1	Q9HBL0	p.Val278Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217885074C>T	NCI-TCGA
TNS1	Q9HBL0	p.Val279Phe	rs1235349118	missense variant	-	NC_000002.12:g.217885071C>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Phe280Leu	rs775534256	missense variant	-	NC_000002.12:g.217885068A>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly281Ala	rs1181035293	missense variant	-	NC_000002.12:g.217885064C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly281Trp	rs1265222115	missense variant	-	NC_000002.12:g.217885065C>A	TOPMed
TNS1	Q9HBL0	p.Lys282ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217885063C>-	NCI-TCGA
TNS1	Q9HBL0	p.Asp286Asn	COSM6156626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885050C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Asp287Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217885047C>A	NCI-TCGA
TNS1	Q9HBL0	p.Phe289Leu	COSM2152461	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885039G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg293Ter	COSM4091378	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217882406G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg293Gln	COSM1016274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217882405C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Glu296Gly	rs944657074	missense variant	-	NC_000002.12:g.217882396T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu296Asp	rs781038399	missense variant	-	NC_000002.12:g.217882395C>G	gnomAD
TNS1	Q9HBL0	p.Glu296Ala	rs944657074	missense variant	-	NC_000002.12:g.217882396T>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr297His	rs911823261	missense variant	-	NC_000002.12:g.217882394A>G	TOPMed
TNS1	Q9HBL0	p.Tyr297Cys	rs1297739777	missense variant	-	NC_000002.12:g.217882393T>C	gnomAD
TNS1	Q9HBL0	p.Gly298Cys	rs759958551	missense variant	-	NC_000002.12:g.217882391C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Val300Met	rs776981935	missense variant	-	NC_000002.12:g.217882385C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val303Leu	rs1474894759	missense variant	-	NC_000002.12:g.217882376C>A	TOPMed
TNS1	Q9HBL0	p.Ser305Phe	rs1159381184	missense variant	-	NC_000002.12:g.217882369G>A	gnomAD
TNS1	Q9HBL0	p.Gly307Glu	rs1391495377	missense variant	-	NC_000002.12:g.217882363C>T	TOPMed
TNS1	Q9HBL0	p.Ile311Met	rs11680854	missense variant	-	NC_000002.12:g.217882350A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly313Asp	rs748977058	missense variant	-	NC_000002.12:g.217881014C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly313Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217882346C>T	NCI-TCGA
TNS1	Q9HBL0	p.Met314Val	rs1280967003	missense variant	-	NC_000002.12:g.217881012T>C	gnomAD
TNS1	Q9HBL0	p.Met314Thr	rs1222674756	missense variant	-	NC_000002.12:g.217881011A>G	gnomAD
TNS1	Q9HBL0	p.His316Asp	rs544640906	missense variant	-	NC_000002.12:g.217881006G>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Leu317Pro	rs769759280	missense variant	-	NC_000002.12:g.217881002A>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu318Ala	rs1265341573	missense variant	-	NC_000002.12:g.217880999T>G	TOPMed
TNS1	Q9HBL0	p.Gly320Arg	rs138239490	missense variant	-	NC_000002.12:g.217880994C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly320Arg	rs138239490	missense variant	-	NC_000002.12:g.217880994C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro321Leu	rs200351785	missense variant	-	NC_000002.12:g.217880990G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser322Arg	rs374249469	missense variant	-	NC_000002.12:g.217880986G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val323Met	rs199656363	missense variant	-	NC_000002.12:g.217880985C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp326Gly	rs756559646	missense variant	-	NC_000002.12:g.217880975T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp326Asn	rs1457092831	missense variant	-	NC_000002.12:g.217880976C>T	TOPMed
TNS1	Q9HBL0	p.Tyr327Asp	rs750750378	missense variant	-	NC_000002.12:g.217880973A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr327Cys	rs767857728	missense variant	-	NC_000002.12:g.217880972T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn328Lys	rs752071725	missense variant	-	NC_000002.12:g.217880968G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr329Asn	rs763736445	missense variant	-	NC_000002.12:g.217880966G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser330Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217880963G>T	NCI-TCGA
TNS1	Q9HBL0	p.Asp331Gly	rs932615394	missense variant	-	NC_000002.12:g.217880960T>C	-
TNS1	Q9HBL0	p.Asp331Asn	rs1260877302	missense variant	-	NC_000002.12:g.217880961C>T	gnomAD
TNS1	Q9HBL0	p.Leu333Phe	rs769561868	missense variant	-	NC_000002.12:g.217880955G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ile334Leu	rs983141670	missense variant	-	NC_000002.12:g.217880952T>G	TOPMed
TNS1	Q9HBL0	p.Arg335Cys	rs976031308	missense variant	-	NC_000002.12:g.217880949G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg335His	rs770708101	missense variant	-	NC_000002.12:g.217880948C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp340Asn	rs1335007751	missense variant	-	NC_000002.12:g.217880934C>T	gnomAD
TNS1	Q9HBL0	p.Asp340His	rs1335007751	missense variant	-	NC_000002.12:g.217880934C>G	gnomAD
TNS1	Q9HBL0	p.Arg346Gly	rs768776859	missense variant	-	NC_000002.12:g.217880916G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg346Gln	rs749360659	missense variant	-	NC_000002.12:g.217880915C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp347Gly	rs781427620	missense variant	-	NC_000002.12:g.217880912T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp348Gly	rs1474189779	missense variant	-	NC_000002.12:g.217880909T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly349Ser	rs750603103	missense variant	-	NC_000002.12:g.217880907C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met350Val	rs1164705617	missense variant	-	NC_000002.12:g.217880904T>C	gnomAD
TNS1	Q9HBL0	p.Met350Arg	rs1032736978	missense variant	-	NC_000002.12:g.217880903A>C	gnomAD
TNS1	Q9HBL0	p.Glu351Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217880899C>A	NCI-TCGA
TNS1	Q9HBL0	p.Glu352Lys	rs781435308	missense variant	-	NC_000002.12:g.217880898C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu352Val	rs765740638	missense variant	-	NC_000002.12:g.217849087T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr357Met	rs200862766	missense variant	-	NC_000002.12:g.217849072G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln358His	rs774212039	missense variant	-	NC_000002.12:g.217849068C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln358Arg	rs761571534	missense variant	-	NC_000002.12:g.217849069T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro360Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217849064G>T	NCI-TCGA
TNS1	Q9HBL0	p.Pro360Leu	rs764087984	missense variant	-	NC_000002.12:g.217849063G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser364Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217849052T>A	NCI-TCGA
TNS1	Q9HBL0	p.Leu365Val	rs143053944	missense variant	-	NC_000002.12:g.217849049G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr366Cys	rs773534997	missense variant	-	NC_000002.12:g.217849045T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr366His	rs1345881312	missense variant	-	NC_000002.12:g.217849046A>G	TOPMed
TNS1	Q9HBL0	p.Lys370Arg	rs748510963	missense variant	-	NC_000002.12:g.217849033T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp373Val	rs1271698649	missense variant	-	NC_000002.12:g.217849024T>A	gnomAD
TNS1	Q9HBL0	p.Ser374Phe	rs1273157750	missense variant	-	NC_000002.12:g.217849021G>A	gnomAD
TNS1	Q9HBL0	p.Ser374Thr	rs769210881	missense variant	-	NC_000002.12:g.217849022A>T	ExAC,gnomAD
TNS1	Q9HBL0	p.His376Arg	rs779642261	missense variant	-	NC_000002.12:g.217849015T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly377Ser	rs1458033171	missense variant	-	NC_000002.12:g.217849013C>T	TOPMed
TNS1	Q9HBL0	p.Gly377Asp	rs1192670909	missense variant	-	NC_000002.12:g.217849012C>T	TOPMed
TNS1	Q9HBL0	p.Ser378Asn	rs780806182	missense variant	-	NC_000002.12:g.217849009C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly380Arg	rs751369945	missense variant	-	NC_000002.12:g.217849004C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly380Arg	rs751369945	missense variant	-	NC_000002.12:g.217849004C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala381Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217849000G>A	NCI-TCGA
TNS1	Q9HBL0	p.Ala381Thr	rs763734847	missense variant	-	NC_000002.12:g.217849001C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn383Thr	rs1444198691	missense variant	-	NC_000002.12:g.217848994T>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala384Asp	rs1336252508	missense variant	-	NC_000002.12:g.217848991G>T	gnomAD
TNS1	Q9HBL0	p.Arg386Gly	rs766880323	missense variant	-	NC_000002.12:g.217848986G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg386His	rs1399156741	missense variant	-	NC_000002.12:g.217848985C>T	TOPMed
TNS1	Q9HBL0	p.Arg386Cys	rs766880323	missense variant	-	NC_000002.12:g.217848986G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro387Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848983G>T	NCI-TCGA
TNS1	Q9HBL0	p.Thr388Ala	rs1352530013	missense variant	-	NC_000002.12:g.217848980T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr388Ile	rs752536360	missense variant	-	NC_000002.12:g.217848979G>A	ExAC
TNS1	Q9HBL0	p.Leu389Gln	rs1368999137	missense variant	-	NC_000002.12:g.217848976A>T	TOPMed
TNS1	Q9HBL0	p.Ser390Leu	rs766604784	missense variant	-	NC_000002.12:g.217848973G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala391Val	rs1470518765	missense variant	-	NC_000002.12:g.217848970G>A	gnomAD
TNS1	Q9HBL0	p.Thr392Ala	rs772420428	missense variant	-	NC_000002.12:g.217848968T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro393Ala	rs774796955	missense variant	-	NC_000002.12:g.217848965G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro393Arg	rs768857809	missense variant	-	NC_000002.12:g.217848964G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro393Ser	rs774796955	missense variant	-	NC_000002.12:g.217848965G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro393His	rs768857809	missense variant	-	NC_000002.12:g.217848964G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn394ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217848963G>-	NCI-TCGA
TNS1	Q9HBL0	p.Asn394Thr	rs148316380	missense variant	-	NC_000002.12:g.217848961T>G	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His395Tyr	rs780509812	missense variant	-	NC_000002.12:g.217848959G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.His395Gln	rs759099041	missense variant	-	NC_000002.12:g.217848957G>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Val396Met	rs745375281	missense variant	-	NC_000002.12:g.217848956C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val396Leu	rs745375281	missense variant	-	NC_000002.12:g.217848956C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu397Asp	rs1276298715	missense variant	-	NC_000002.12:g.217848951T>A	gnomAD
TNS1	Q9HBL0	p.Glu397Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848953C>G	NCI-TCGA
TNS1	Q9HBL0	p.His398Gln	rs1218409718	missense variant	-	NC_000002.12:g.217848948G>C	gnomAD
TNS1	Q9HBL0	p.Thr399Met	rs780609967	missense variant	-	NC_000002.12:g.217848946G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu400Arg	rs1444475950	missense variant	-	NC_000002.12:g.217848943A>C	gnomAD
TNS1	Q9HBL0	p.Leu400Phe	rs201008562	missense variant	-	NC_000002.12:g.217848944G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser403Asn	rs1374694266	missense variant	-	NC_000002.12:g.217848934C>T	gnomAD
TNS1	Q9HBL0	p.Ser404Ile	rs777654934	missense variant	-	NC_000002.12:g.217848931C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser404Arg	rs138285837	missense variant	-	NC_000002.12:g.217848930G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser404Cys	rs751123213	missense variant	-	NC_000002.12:g.217848932T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp405Asn	rs1054588940	missense variant	-	NC_000002.12:g.217848929C>T	TOPMed
TNS1	Q9HBL0	p.Ser406Trp	rs759438688	missense variant	-	NC_000002.12:g.217848925G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser406Leu	rs759438688	missense variant	-	NC_000002.12:g.217848925G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly407Cys	rs765253886	missense variant	-	NC_000002.12:g.217848923C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly407Arg	rs765253886	missense variant	-	NC_000002.12:g.217848923C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn408Ser	rs760906017	missense variant	-	NC_000002.12:g.217848919T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser409Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848916G>C	NCI-TCGA
TNS1	Q9HBL0	p.Ser409Tyr	rs750536300	missense variant	-	NC_000002.12:g.217848916G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr410Ala	rs953460153	missense variant	-	NC_000002.12:g.217848914T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr413Ile	rs762121379	missense variant	-	NC_000002.12:g.217848904G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr413Ala	rs1045407127	missense variant	-	NC_000002.12:g.217848905T>C	TOPMed
TNS1	Q9HBL0	p.Asp416Val	rs1380570457	missense variant	-	NC_000002.12:g.217848895T>A	TOPMed
TNS1	Q9HBL0	p.Asp416Asn	rs769108465	missense variant	-	NC_000002.12:g.217848896C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Lys417Asn	rs1232635977	missense variant	-	NC_000002.12:g.217848891C>G	gnomAD
TNS1	Q9HBL0	p.Thr418Ala	rs76235817	missense variant	-	NC_000002.12:g.217848890T>C	gnomAD
TNS1	Q9HBL0	p.Thr418Asn	rs1286286362	missense variant	-	NC_000002.12:g.217848889G>T	gnomAD
TNS1	Q9HBL0	p.Thr418Pro	rs76235817	missense variant	-	NC_000002.12:g.217848890T>G	gnomAD
TNS1	Q9HBL0	p.Asp419Asn	rs770287849	missense variant	-	NC_000002.12:g.217848887C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp419Glu	rs147048389	missense variant	-	NC_000002.12:g.217848885G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp419Glu	rs147048389	missense variant	-	NC_000002.12:g.217848885G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu420Lys	rs1354496737	missense variant	-	NC_000002.12:g.217848884C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro421His	rs746714545	missense variant	-	NC_000002.12:g.217848880G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro421Thr	rs1246800292	missense variant	-	NC_000002.12:g.217848881G>T	gnomAD
TNS1	Q9HBL0	p.Pro421Arg	rs746714545	missense variant	-	NC_000002.12:g.217848880G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Val422Ile	rs963165230	missense variant	-	NC_000002.12:g.217848878C>T	gnomAD
TNS1	Q9HBL0	p.Gly424Arg	rs1345027580	missense variant	-	NC_000002.12:g.217848872C>T	TOPMed
TNS1	Q9HBL0	p.Ala425Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848868G>T	NCI-TCGA
TNS1	Q9HBL0	p.Ala425Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848869C>T	NCI-TCGA
TNS1	Q9HBL0	p.Ser426Phe	rs1320658622	missense variant	-	NC_000002.12:g.217848865G>A	gnomAD
TNS1	Q9HBL0	p.Ser426Cys	COSM4835970	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848865G>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala428Ser	rs1360428907	missense variant	-	NC_000002.12:g.217848860C>A	gnomAD
TNS1	Q9HBL0	p.Ala431Val	rs778784897	missense variant	-	NC_000002.12:g.217848850G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu432Phe	COSM3991051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848846C>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gln435Leu	rs754979596	missense variant	-	NC_000002.12:g.217848838T>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu436Gln	rs1180868911	missense variant	-	NC_000002.12:g.217848836C>G	gnomAD
TNS1	Q9HBL0	p.Arg438Gln	rs201977904	missense variant	-	NC_000002.12:g.217848829C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg438Pro	rs201977904	missense variant	-	NC_000002.12:g.217848829C>G	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg438Trp	rs1014781428	missense variant	-	NC_000002.12:g.217848830G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp441Tyr	rs1487960854	missense variant	-	NC_000002.12:g.217848821C>A	gnomAD
TNS1	Q9HBL0	p.Asp441Glu	rs61740205	missense variant	-	NC_000002.12:g.217848819G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg442Cys	rs373131506	missense variant	-	NC_000002.12:g.217848818G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg442Gly	rs373131506	missense variant	-	NC_000002.12:g.217848818G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg442His	rs764214597	missense variant	-	NC_000002.12:g.217848817C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg442Leu	rs764214597	missense variant	-	NC_000002.12:g.217848817C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu443Arg	rs1310890653	missense variant	-	NC_000002.12:g.217848814A>C	gnomAD
TNS1	Q9HBL0	p.Ser445Arg	rs1362898445	missense variant	-	NC_000002.12:g.217848807A>T	gnomAD
TNS1	Q9HBL0	p.Gly446Asp	rs369539752	missense variant	-	NC_000002.12:g.217848805C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly446Cys	rs1280559275	missense variant	-	NC_000002.12:g.217848806C>A	gnomAD
TNS1	Q9HBL0	p.Gly446Val	COSM6156628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848805C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Leu449Ser	rs1361093045	missense variant	-	NC_000002.12:g.217848796A>G	TOPMed
TNS1	Q9HBL0	p.Arg451Gln	rs578261466	missense variant	-	NC_000002.12:g.217848790C>T	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Arg451Pro	rs578261466	missense variant	-	NC_000002.12:g.217848790C>G	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Lys453Asn	rs373256429	missense variant	-	NC_000002.12:g.217848783C>G	ESP
TNS1	Q9HBL0	p.Ala456Thr	rs770522095	missense variant	-	NC_000002.12:g.217848776C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met457Thr	rs556582105	missense variant	-	NC_000002.12:g.217848772A>G	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met457Ile	rs1396363796	missense variant	-	NC_000002.12:g.217848771C>T	TOPMed
TNS1	Q9HBL0	p.Thr460Ala	rs111921456	missense variant	-	NC_000002.12:g.217848764T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr460Ser	rs111921456	missense variant	-	NC_000002.12:g.217848764T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr460Asn	rs771629474	missense variant	-	NC_000002.12:g.217848763G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.His462Asp	rs1191243427	missense variant	-	NC_000002.12:g.217848758G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.His462Tyr	rs1191243427	missense variant	-	NC_000002.12:g.217848758G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu463Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848755G>T	NCI-TCGA
TNS1	Q9HBL0	p.Ser465Tyr	rs1477340309	missense variant	-	NC_000002.12:g.217848748G>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg466Leu	rs368810573	missense variant	-	NC_000002.12:g.217848745C>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg466Cys	rs3815849	missense variant	-	NC_000002.12:g.217848746G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg466Gly	rs3815849	missense variant	-	NC_000002.12:g.217848746G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg466Ser	rs3815849	missense variant	-	NC_000002.12:g.217848746G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg466His	rs368810573	missense variant	-	NC_000002.12:g.217848745C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro467Leu	COSM1669744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848742G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala468Gly	rs749281992	missense variant	-	NC_000002.12:g.217848739G>C	ExAC
TNS1	Q9HBL0	p.Gly469Trp	rs1487448191	missense variant	-	NC_000002.12:g.217848737C>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly469Arg	rs1487448191	missense variant	-	NC_000002.12:g.217848737C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly470Asp	rs757417754	missense variant	-	NC_000002.12:g.217848733C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly470Ser	rs779836284	missense variant	-	NC_000002.12:g.217848734C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly470AlaPheSerTerUnkUnk	COSM1405415	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217848733C>-	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser471Leu	rs376414331	missense variant	-	NC_000002.12:g.217848730G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val473Ala	rs372920358	missense variant	-	NC_000002.12:g.217848724A>G	ESP,ExAC,gnomAD
TNS1	Q9HBL0	p.Pro474Leu	rs143281124	missense variant	-	NC_000002.12:g.217848721G>A	ESP,TOPMed
TNS1	Q9HBL0	p.Ser475Phe	rs759870939	missense variant	-	NC_000002.12:g.217848718G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser475Ala	rs765630721	missense variant	-	NC_000002.12:g.217848719A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser476Cys	rs369908557	missense variant	-	NC_000002.12:g.217848715G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg478Cys	rs146423363	missense variant	-	NC_000002.12:g.217848710G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg478Pro	rs772611683	missense variant	-	NC_000002.12:g.217848709C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg478His	rs772611683	missense variant	-	NC_000002.12:g.217848709C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg478Ser	rs146423363	missense variant	-	NC_000002.12:g.217848710G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His479Gln	rs373984284	missense variant	-	NC_000002.12:g.217848705G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His479Gln	rs373984284	missense variant	-	NC_000002.12:g.217848705G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val480Ile	rs768623481	missense variant	-	NC_000002.12:g.217848704C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro482Leu	rs749084085	missense variant	-	NC_000002.12:g.217848697G>A	ExAC
TNS1	Q9HBL0	p.His486Arg	rs1429791085	missense variant	-	NC_000002.12:g.217848685T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn488Ser	rs1297337367	missense variant	-	NC_000002.12:g.217848679T>C	TOPMed
TNS1	Q9HBL0	p.Gly489Asp	rs1431430256	missense variant	-	NC_000002.12:g.217848676C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly490Ala	COSM1136608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848673C>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala491Thr	rs769628957	missense variant	-	NC_000002.12:g.217848671C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala493Thr	rs1480965426	missense variant	-	NC_000002.12:g.217848665C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg496Gln	rs199538180	missense variant	-	NC_000002.12:g.217848655C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg496Trp	rs758441152	missense variant	-	NC_000002.12:g.217848656G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr498Ala	rs755401512	missense variant	-	NC_000002.12:g.217848650T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ile500Met	rs181839905	missense variant	-	NC_000002.12:g.217848642G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu501Met	rs200207013	missense variant	-	NC_000002.12:g.217848641G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu501Pro	rs1378424926	missense variant	-	NC_000002.12:g.217848640A>G	gnomAD
TNS1	Q9HBL0	p.Leu501Val	rs200207013	missense variant	-	NC_000002.12:g.217848641G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp503Asn	rs1445648934	missense variant	-	NC_000002.12:g.217848635C>T	gnomAD
TNS1	Q9HBL0	p.Glu504Asp	rs1406345149	missense variant	-	NC_000002.12:g.217848630T>G	gnomAD
TNS1	Q9HBL0	p.Pro506Thr	rs920537811	missense variant	-	NC_000002.12:g.217848626G>T	TOPMed
TNS1	Q9HBL0	p.Asn507Ile	rs1464301798	missense variant	-	NC_000002.12:g.217848622T>A	gnomAD
TNS1	Q9HBL0	p.Gln508His	rs766980683	missense variant	-	NC_000002.12:g.217848618C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln508Ter	COSM6090113	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217848620G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Asp509Tyr	rs761389048	missense variant	-	NC_000002.12:g.217848617C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.His511Tyr	rs374052155	missense variant	-	NC_000002.12:g.217848611G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His511Gln	COSM1149026	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848609G>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser512Ile	rs1176830699	missense variant	-	NC_000002.12:g.217848607C>A	gnomAD
TNS1	Q9HBL0	p.Ala513Glu	rs116507626	missense variant	-	NC_000002.12:g.217848604G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala513Val	rs116507626	missense variant	-	NC_000002.12:g.217848604G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala513Thr	rs762633359	missense variant	-	NC_000002.12:g.217848605C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser515Asn	rs1283306226	missense variant	-	NC_000002.12:g.217848598C>T	gnomAD
TNS1	Q9HBL0	p.Met516Lys	rs781165822	missense variant	-	NC_000002.12:g.217848595A>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly517Val	rs1240441670	missense variant	-	NC_000002.12:g.217848592C>A	gnomAD
TNS1	Q9HBL0	p.Thr518Ile	rs1228742782	missense variant	-	NC_000002.12:g.217848589G>A	gnomAD
TNS1	Q9HBL0	p.Leu519Phe	rs1356442802	missense variant	-	NC_000002.12:g.217848587G>A	gnomAD
TNS1	Q9HBL0	p.Ser520Phe	rs1238789705	missense variant	-	NC_000002.12:g.217848583G>A	gnomAD
TNS1	Q9HBL0	p.Ser520Pro	COSM3798632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848584A>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser521Phe	rs748219666	missense variant	-	NC_000002.12:g.217848580G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp523Tyr	rs755207540	missense variant	-	NC_000002.12:g.217848575C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp523Glu	rs754043363	missense variant	-	NC_000002.12:g.217848573G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly524Arg	rs547038346	missense variant	-	NC_000002.12:g.217848572C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr526Pro	rs750945272	missense variant	-	NC_000002.12:g.217848566T>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr526Ala	rs750945272	missense variant	-	NC_000002.12:g.217848566T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn527His	rs1157000630	missense variant	-	NC_000002.12:g.217848563T>G	gnomAD
TNS1	Q9HBL0	p.Asn527Thr	rs189921106	missense variant	-	NC_000002.12:g.217848562T>G	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn527Ser	rs189921106	missense variant	-	NC_000002.12:g.217848562T>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr528Ile	rs3796033	missense variant	-	NC_000002.12:g.217848559G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr528Ser	rs3796033	missense variant	-	NC_000002.12:g.217848559G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser529Gly	rs549825709	missense variant	-	NC_000002.12:g.217848557T>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Glu530Asp	rs762722991	missense variant	-	NC_000002.12:g.217848552C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly532AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217848547C>-	NCI-TCGA
TNS1	Q9HBL0	p.Gly532Val	rs1001970315	missense variant	-	NC_000002.12:g.217848547C>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly532Ala	rs1001970315	missense variant	-	NC_000002.12:g.217848547C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu535Lys	rs1200869972	missense variant	-	NC_000002.12:g.217848539C>T	TOPMed
TNS1	Q9HBL0	p.Ala536Thr	rs759362727	missense variant	-	NC_000002.12:g.217848536C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala536Asp	rs1468160337	missense variant	-	NC_000002.12:g.217848535G>T	TOPMed
TNS1	Q9HBL0	p.Thr541Ile	rs770858410	missense variant	-	NC_000002.12:g.217848520G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn542Lys	rs367726103	missense variant	-	NC_000002.12:g.217848516G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn542Ser	rs1339485733	missense variant	-	NC_000002.12:g.217848517T>C	gnomAD
TNS1	Q9HBL0	p.Gly543Ser	rs1020212472	missense variant	-	NC_000002.12:g.217848515C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly543Asp	rs373694993	missense variant	-	NC_000002.12:g.217848514C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp545Val	rs1165032068	missense variant	-	NC_000002.12:g.217848508T>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys546Glu	rs768682910	missense variant	-	NC_000002.12:g.217848506T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys546Asn	rs1052573884	missense variant	-	NC_000002.12:g.217848504C>G	TOPMed
TNS1	Q9HBL0	p.Ser547Phe	COSM4091372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848502G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Met550Thr	rs957291523	missense variant	-	NC_000002.12:g.217848493A>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Met550Val	COSM1482761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848494T>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Pro552Leu	COSM270376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848487G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Met553Ile	rs1350010708	missense variant	-	NC_000002.12:g.217848483C>T	TOPMed
TNS1	Q9HBL0	p.Met553Thr	rs371147972	missense variant	-	NC_000002.12:g.217848484A>G	ESP,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val554Ala	rs1194856183	missense variant	-	NC_000002.12:g.217848481A>G	gnomAD
TNS1	Q9HBL0	p.Asn555Ser	rs1478976190	missense variant	-	NC_000002.12:g.217848478T>C	gnomAD
TNS1	Q9HBL0	p.Gly556Glu	rs1261677872	missense variant	-	NC_000002.12:g.217848475C>T	gnomAD
TNS1	Q9HBL0	p.Gly558Asp	rs1193520162	missense variant	-	NC_000002.12:g.217848469C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly558Val	rs1193520162	missense variant	-	NC_000002.12:g.217848469C>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro560Ala	rs372897397	missense variant	-	NC_000002.12:g.217848464G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro560Thr	rs372897397	missense variant	-	NC_000002.12:g.217848464G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro560Ser	rs372897397	missense variant	-	NC_000002.12:g.217848464G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr561His	rs890234778	missense variant	-	NC_000002.12:g.217848461A>G	TOPMed
TNS1	Q9HBL0	p.Tyr561Cys	rs1220865873	missense variant	-	NC_000002.12:g.217848460T>C	TOPMed
TNS1	Q9HBL0	p.Glu562Val	COSM1149025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848457T>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser563Cys	rs757858485	missense variant	-	NC_000002.12:g.217848454G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala564Thr	rs752070014	missense variant	-	NC_000002.12:g.217848452C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala564Val	rs143912099	missense variant	-	NC_000002.12:g.217848451G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg566Trp	rs531506212	missense variant	-	NC_000002.12:g.217848446G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg566Gln	rs752348651	missense variant	-	NC_000002.12:g.217848445C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg566Leu	rs752348651	missense variant	-	NC_000002.12:g.217848445C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala567Gly	rs759042034	missense variant	-	NC_000002.12:g.217848442G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala567Val	rs759042034	missense variant	-	NC_000002.12:g.217848442G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala570Pro	rs766115642	missense variant	-	NC_000002.12:g.217848434C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.His571Pro	rs560954271	missense variant	-	NC_000002.12:g.217848430T>G	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.His571Arg	rs560954271	missense variant	-	NC_000002.12:g.217848430T>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.His571Gln	rs753938567	missense variant	-	NC_000002.12:g.217848429A>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His571Tyr	COSM6090117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848431G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala572Thr	rs369171498	missense variant	-	NC_000002.12:g.217848428C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr575Met	rs147452506	missense variant	-	NC_000002.12:g.217848418G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala576Val	rs1196139217	missense variant	-	NC_000002.12:g.217848415G>A	gnomAD
TNS1	Q9HBL0	p.Pro577Ser	rs724159922	missense variant	-	NC_000002.12:g.217848413G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Met578Ile	rs1156243679	missense variant	-	NC_000002.12:g.217848408C>A	TOPMed
TNS1	Q9HBL0	p.Arg579Gln	rs577075016	missense variant	-	NC_000002.12:g.217848406C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg579Trp	rs200755457	missense variant	-	NC_000002.12:g.217848407G>A	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Arg579Gly	rs200755457	missense variant	-	NC_000002.12:g.217848407G>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr582Cys	rs1257250069	missense variant	-	NC_000002.12:g.217848397T>C	gnomAD
TNS1	Q9HBL0	p.Ser583Phe	rs778410785	missense variant	-	NC_000002.12:g.217848394G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala584Ser	rs1402471985	missense variant	-	NC_000002.12:g.217848392C>A	TOPMed
TNS1	Q9HBL0	p.Ala584Thr	COSM1405411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848392C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gln585His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848387C>A	NCI-TCGA
TNS1	Q9HBL0	p.Glu586Lys	rs1272939244	missense variant	-	NC_000002.12:g.217848386C>T	gnomAD
TNS1	Q9HBL0	p.Glu586Asp	rs757912222	missense variant	-	NC_000002.12:g.217848384C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly587Arg	rs752254760	missense variant	-	NC_000002.12:g.217848383C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly587Asp	rs993104561	missense variant	-	NC_000002.12:g.217848382C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly587Val	COSM1136606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848382C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gln592Leu	rs148052560	missense variant	-	NC_000002.12:g.217848367T>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln592Arg	rs148052560	missense variant	-	NC_000002.12:g.217848367T>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg593Thr	rs1286209977	missense variant	-	NC_000002.12:g.217848364C>G	TOPMed
TNS1	Q9HBL0	p.Glu594Ala	rs1415335815	missense variant	-	NC_000002.12:g.217848361T>G	gnomAD
TNS1	Q9HBL0	p.Gly595Arg	rs980102459	missense variant	-	NC_000002.12:g.217848359C>T	TOPMed
TNS1	Q9HBL0	p.Pro596Ser	rs1171286488	missense variant	-	NC_000002.12:g.217848356G>A	gnomAD
TNS1	Q9HBL0	p.His597Tyr	rs1360644108	missense variant	-	NC_000002.12:g.217848353G>A	gnomAD
TNS1	Q9HBL0	p.His597Pro	rs760441265	missense variant	-	NC_000002.12:g.217848352T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala599Thr	rs767489478	missense variant	-	NC_000002.12:g.217848347C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala599Asp	rs1237115106	missense variant	-	NC_000002.12:g.217848346G>T	gnomAD
TNS1	Q9HBL0	p.Gln602Glu	rs1021797385	missense variant	-	NC_000002.12:g.217848338G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro603Thr	rs1276450921	missense variant	-	NC_000002.12:g.217848335G>T	gnomAD
TNS1	Q9HBL0	p.Val604Ala	rs1199846193	missense variant	-	NC_000002.12:g.217848331A>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr605Ile	rs775656073	missense variant	-	NC_000002.12:g.217848328G>A	ExAC
TNS1	Q9HBL0	p.Thr606Ile	rs373147435	missense variant	-	NC_000002.12:g.217848325G>A	ESP,TOPMed
TNS1	Q9HBL0	p.Ser607Tyr	rs1242404681	missense variant	-	NC_000002.12:g.217848322G>T	gnomAD
TNS1	Q9HBL0	p.His608Arg	rs776966896	missense variant	-	NC_000002.12:g.217848319T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.His608Tyr	rs1469251573	missense variant	-	NC_000002.12:g.217848320G>A	TOPMed
TNS1	Q9HBL0	p.His608Gln	rs771477176	missense variant	-	NC_000002.12:g.217848318G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr609Cys	rs747372488	missense variant	-	NC_000002.12:g.217848316T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala610Thr	rs976774940	missense variant	-	NC_000002.12:g.217848314C>T	gnomAD
TNS1	Q9HBL0	p.Ala610Ser	COSM4930912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848314C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Asp612Asn	rs772645301	missense variant	-	NC_000002.12:g.217848308C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro613Arg	rs748553264	missense variant	-	NC_000002.12:g.217848304G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro613Ala	rs892083995	missense variant	-	NC_000002.12:g.217848305G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro613Thr	COSM4091368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848305G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gly615Ser	rs1379322696	missense variant	-	NC_000002.12:g.217848299C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Phe617Val	rs754417823	missense variant	-	NC_000002.12:g.217848293A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg618His	rs199985548	missense variant	-	NC_000002.12:g.217848289C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg618Cys	rs372703460	missense variant	-	NC_000002.12:g.217848290G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg618Ser	rs372703460	missense variant	-	NC_000002.12:g.217848290G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg618Leu	rs199985548	missense variant	-	NC_000002.12:g.217848289C>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser619Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848287A>T	NCI-TCGA
TNS1	Q9HBL0	p.Ser623Thr	rs761837861	missense variant	-	NC_000002.12:g.217848275A>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser623Leu	rs751419226	missense variant	-	NC_000002.12:g.217848274G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro627Ser	rs144830902	missense variant	-	NC_000002.12:g.217848263G>A	ESP,TOPMed
TNS1	Q9HBL0	p.Gln628Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848259T>A	NCI-TCGA
TNS1	Q9HBL0	p.Gln628Arg	rs759671156	missense variant	-	NC_000002.12:g.217848259T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro630His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848253G>T	NCI-TCGA
TNS1	Q9HBL0	p.Pro630Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848254G>A	NCI-TCGA
TNS1	Q9HBL0	p.Pro630Leu	rs1282862723	missense variant	-	NC_000002.12:g.217848253G>A	gnomAD
TNS1	Q9HBL0	p.Ala632Pro	rs369268825	missense variant	-	NC_000002.12:g.217848248C>G	ESP,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala632Val	rs771281003	missense variant	-	NC_000002.12:g.217848247G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro633Leu	rs375153588	missense variant	-	NC_000002.12:g.217848244G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro633Ser	rs1201967243	missense variant	-	NC_000002.12:g.217848245G>A	TOPMed
TNS1	Q9HBL0	p.Val634Ile	rs1164840887	missense variant	-	NC_000002.12:g.217848242C>T	gnomAD
TNS1	Q9HBL0	p.Arg635Gln	rs372143060	missense variant	-	NC_000002.12:g.217848238C>T	ESP,TOPMed
TNS1	Q9HBL0	p.Gly636Trp	rs748730030	missense variant	-	NC_000002.12:g.217848236C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly636Arg	rs748730030	missense variant	-	NC_000002.12:g.217848236C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly637Glu	rs1477993595	missense variant	-	NC_000002.12:g.217848232C>T	gnomAD
TNS1	Q9HBL0	p.Gly637GluPheSerTerUnkUnk	COSM1405409	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217848232C>-	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser638Asn	rs779267125	missense variant	-	NC_000002.12:g.217848229C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser638Gly	rs1191367282	missense variant	-	NC_000002.12:g.217848230T>C	gnomAD
TNS1	Q9HBL0	p.Ser639Ile	rs768272522	missense variant	-	NC_000002.12:g.217848226C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg640Gln	rs1287918285	missense variant	-	NC_000002.12:g.217848223C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg640Trp	rs907813420	missense variant	-	NC_000002.12:g.217848224G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu641Lys	rs748795797	missense variant	-	NC_000002.12:g.217848221C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val643Leu	rs368772929	missense variant	-	NC_000002.12:g.217848215C>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg645Lys	rs1015716797	missense variant	-	NC_000002.12:g.217848208C>T	TOPMed
TNS1	Q9HBL0	p.Arg645Ser	rs1293678443	missense variant	-	NC_000002.12:g.217848207C>G	gnomAD
TNS1	Q9HBL0	p.Gly646Glu	rs1347772931	missense variant	-	NC_000002.12:g.217848205C>T	gnomAD
TNS1	Q9HBL0	p.Gly646Arg	rs1437910056	missense variant	-	NC_000002.12:g.217848206C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu647ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217848204_217848205insC	NCI-TCGA
TNS1	Q9HBL0	p.Leu647Pro	rs1163575208	missense variant	-	NC_000002.12:g.217848202A>G	gnomAD
TNS1	Q9HBL0	p.Ser649Pro	rs751570460	missense variant	-	NC_000002.12:g.217848197A>G	ExAC
TNS1	Q9HBL0	p.Ser649Leu	rs763931538	missense variant	-	NC_000002.12:g.217848196G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Trp650Cys	rs766517070	missense variant	-	NC_000002.12:g.217848192C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln651His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217848189C>A	NCI-TCGA
TNS1	Q9HBL0	p.Gln651Lys	rs1477493247	missense variant	-	NC_000002.12:g.217848191G>T	gnomAD
TNS1	Q9HBL0	p.Gln651Arg	rs544596911	missense variant	-	NC_000002.12:g.217848190T>C	1000Genomes,TOPMed
TNS1	Q9HBL0	p.Gln652Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.217848188G>A	NCI-TCGA
TNS1	Q9HBL0	p.Gln653Arg	rs1368258123	missense variant	-	NC_000002.12:g.217848184T>C	gnomAD
TNS1	Q9HBL0	p.Gln657His	rs761008694	missense variant	-	NC_000002.12:g.217848171C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro660Ser	rs574153391	missense variant	-	NC_000002.12:g.217848164G>A	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Arg661Cys	rs767974267	missense variant	-	NC_000002.12:g.217848161G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg661His	rs762073103	missense variant	-	NC_000002.12:g.217848160C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg661Pro	rs762073103	missense variant	-	NC_000002.12:g.217848160C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro662Leu	rs774991200	missense variant	-	NC_000002.12:g.217848157G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro663Leu	rs1217182612	missense variant	-	NC_000002.12:g.217848154G>A	gnomAD
TNS1	Q9HBL0	p.Pro664Ser	rs1324164444	missense variant	-	NC_000002.12:g.217848152G>A	TOPMed
TNS1	Q9HBL0	p.Arg665Cys	rs775007214	missense variant	-	NC_000002.12:g.217848149G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg665Ser	rs775007214	missense variant	-	NC_000002.12:g.217848149G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg665His	rs372848151	missense variant	-	NC_000002.12:g.217848148C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln666His	rs149540382	missense variant	-	NC_000002.12:g.217848144C>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln667Glu	rs1447138151	missense variant	-	NC_000002.12:g.217848143G>C	gnomAD
TNS1	Q9HBL0	p.Glu668Ala	rs1461887582	missense variant	-	NC_000002.12:g.217848139T>G	gnomAD
TNS1	Q9HBL0	p.Ala670Val	rs1402017726	missense variant	-	NC_000002.12:g.217848133G>A	gnomAD
TNS1	Q9HBL0	p.Leu675Pro	rs1378305494	missense variant	-	NC_000002.12:g.217848118A>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Val676Ile	rs746783171	missense variant	-	NC_000002.12:g.217848116C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala677Val	rs1489192158	missense variant	-	NC_000002.12:g.217848112G>A	TOPMed
TNS1	Q9HBL0	p.Ser678Gly	rs1178091102	missense variant	-	NC_000002.12:g.217848110T>C	gnomAD
TNS1	Q9HBL0	p.Ser678Asn	rs1431334368	missense variant	-	NC_000002.12:g.217848109C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg679Lys	rs777565113	missense variant	-	NC_000002.12:g.217848106C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser681Arg	rs1240189452	missense variant	-	NC_000002.12:g.217848099G>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro682Leu	rs1197163253	missense variant	-	NC_000002.12:g.217848097G>A	gnomAD
TNS1	Q9HBL0	p.Gln683Arg	COSM4091366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848094T>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Pro684Ser	rs1480483702	missense variant	-	NC_000002.12:g.217848092G>A	gnomAD
TNS1	Q9HBL0	p.Ala686Thr	rs1212909557	missense variant	-	NC_000002.12:g.217848086C>T	gnomAD
TNS1	Q9HBL0	p.Glu687Ala	rs750717406	missense variant	-	NC_000002.12:g.217848082T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr688Asn	rs61745187	missense variant	-	NC_000002.12:g.217848079G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr688Ile	rs61745187	missense variant	-	NC_000002.12:g.217848079G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro691Ala	rs1478340932	missense variant	-	NC_000002.12:g.217848071G>C	TOPMed
TNS1	Q9HBL0	p.Pro691Leu	rs1390633164	missense variant	-	NC_000002.12:g.217848070G>A	gnomAD
TNS1	Q9HBL0	p.Ser692Gly	rs763485297	missense variant	-	NC_000002.12:g.217848068T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro697Ser	rs1464530117	missense variant	-	NC_000002.12:g.217848053G>A	gnomAD
TNS1	Q9HBL0	p.Pro697Leu	rs150626193	missense variant	-	NC_000002.12:g.217848052G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg698Gln	rs1008369422	missense variant	-	NC_000002.12:g.217848049C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala700Val	rs889961871	missense variant	-	NC_000002.12:g.217848043G>A	TOPMed
TNS1	Q9HBL0	p.Ser701Phe	rs913987467	missense variant	-	NC_000002.12:g.217848040G>A	-
TNS1	Q9HBL0	p.Gln703Arg	rs746622492	missense variant	-	NC_000002.12:g.217848034T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln703Pro	rs746622492	missense variant	-	NC_000002.12:g.217848034T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ile705Thr	rs1183959797	missense variant	-	NC_000002.12:g.217848028A>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu706Gly	rs777741641	missense variant	-	NC_000002.12:g.217848025T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ile709Leu	rs771961473	missense variant	-	NC_000002.12:g.217848017T>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ile709Phe	rs771961473	missense variant	-	NC_000002.12:g.217848017T>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ile709Met	rs936651143	missense variant	-	NC_000002.12:g.217848015G>C	TOPMed
TNS1	Q9HBL0	p.Glu710Lys	rs200562336	missense variant	-	NC_000002.12:g.217848014C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu710Gln	rs200562336	missense variant	-	NC_000002.12:g.217848014C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr711Arg	rs756330338	missense variant	-	NC_000002.12:g.217848010G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn713Ser	rs750475531	missense variant	-	NC_000002.12:g.217848004T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn713His	rs1259703443	missense variant	-	NC_000002.12:g.217848005T>G	TOPMed
TNS1	Q9HBL0	p.Met714Val	rs762681326	missense variant	-	NC_000002.12:g.217848002T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp718Gly	rs751768935	missense variant	-	NC_000002.12:g.217847989T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp718Glu	rs373809671	missense variant	-	NC_000002.12:g.217847988G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu719Gln	rs1419505029	missense variant	-	NC_000002.12:g.217847986A>T	gnomAD
TNS1	Q9HBL0	p.Ala722Val	rs1181592489	missense variant	-	NC_000002.12:g.217847977G>A	TOPMed
TNS1	Q9HBL0	p.Ala724Thr	rs765735014	missense variant	-	NC_000002.12:g.217847972C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala725Asp	rs1420420335	missense variant	-	NC_000002.12:g.217847968G>T	gnomAD
TNS1	Q9HBL0	p.Ala726Thr	rs1362584451	missense variant	-	NC_000002.12:g.217847966C>T	gnomAD
TNS1	Q9HBL0	p.His729Tyr	rs776024783	missense variant	-	NC_000002.12:g.217847957G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser731Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217847950G>A	NCI-TCGA
TNS1	Q9HBL0	p.Ser731Thr	rs181295117	missense variant	-	NC_000002.12:g.217847951A>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln732Arg	rs1474401767	missense variant	-	NC_000002.12:g.217847947T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser733Asn	rs772978329	missense variant	-	NC_000002.12:g.217847944C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser733Thr	rs772978329	missense variant	-	NC_000002.12:g.217847944C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly736Arg	rs141087902	missense variant	-	NC_000002.12:g.217847936C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly736Arg	rs141087902	missense variant	-	NC_000002.12:g.217847936C>G	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala737Ser	rs781165235	missense variant	-	NC_000002.12:g.217847933C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala737Pro	rs781165235	missense variant	-	NC_000002.12:g.217847933C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro739Leu	rs145524148	missense variant	-	NC_000002.12:g.217847926G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly740Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217847924C>G	NCI-TCGA
TNS1	Q9HBL0	p.Ala741Thr	rs61738776	missense variant	-	NC_000002.12:g.217847921C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala741Pro	rs61738776	missense variant	-	NC_000002.12:g.217847921C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser742Phe	rs1333834798	missense variant	-	NC_000002.12:g.217847917G>A	gnomAD
TNS1	Q9HBL0	p.Leu744Phe	rs142336567	missense variant	-	NC_000002.12:g.217847912G>A	ESP,ExAC,gnomAD
TNS1	Q9HBL0	p.Ser746Phe	rs753070843	missense variant	-	NC_000002.12:g.217847905G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser746Pro	rs1338318553	missense variant	-	NC_000002.12:g.217847906A>G	gnomAD
TNS1	Q9HBL0	p.Gln747Arg	rs1381661014	missense variant	-	NC_000002.12:g.217847902T>C	gnomAD
TNS1	Q9HBL0	p.Gln747His	rs765535009	missense variant	-	NC_000002.12:g.217847901C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro748Thr	rs1295465643	missense variant	-	NC_000002.12:g.217847900G>T	gnomAD
TNS1	Q9HBL0	p.Pro748Ser	rs1295465643	missense variant	-	NC_000002.12:g.217847900G>A	gnomAD
TNS1	Q9HBL0	p.Pro748Arg	rs1460041160	missense variant	-	NC_000002.12:g.217847899G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu749Phe	rs759990832	missense variant	-	NC_000002.12:g.217847897G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu749Pro	rs754339668	missense variant	-	NC_000002.12:g.217847896A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly751Arg	rs765855257	missense variant	-	NC_000002.12:g.217847891C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser752Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217847887G>A	NCI-TCGA
TNS1	Q9HBL0	p.Arg754His	rs774313703	missense variant	-	NC_000002.12:g.217847881C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg754Cys	rs146037843	missense variant	-	NC_000002.12:g.217847882G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln755Arg	rs527485216	missense variant	-	NC_000002.12:g.217847878T>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Gln755Pro	rs527485216	missense variant	-	NC_000002.12:g.217847878T>G	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.His757Gln	rs1220234903	missense variant	-	NC_000002.12:g.217847871A>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.His757Tyr	rs369048650	missense variant	-	NC_000002.12:g.217847873G>A	TOPMed
TNS1	Q9HBL0	p.Thr760Ser	rs770979304	missense variant	-	NC_000002.12:g.217847863G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln761Glu	rs1173853157	missense variant	-	NC_000002.12:g.217847861G>C	TOPMed
TNS1	Q9HBL0	p.Ser762Pro	COSM1405407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847858A>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser764Ala	rs1360733647	missense variant	-	NC_000002.12:g.217847852A>C	TOPMed
TNS1	Q9HBL0	p.Gly765Ser	rs148228479	missense variant	-	NC_000002.12:g.217847849C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr766Asn	rs1331792751	missense variant	-	NC_000002.12:g.217847846A>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr766His	rs1331792751	missense variant	-	NC_000002.12:g.217847846A>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr766Cys	rs1448376365	missense variant	-	NC_000002.12:g.217847845T>C	TOPMed
TNS1	Q9HBL0	p.Ile767Val	rs560530498	missense variant	-	NC_000002.12:g.217847843T>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser769Gly	rs779185044	missense variant	-	NC_000002.12:g.217847837T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly770Arg	rs199828534	missense variant	-	NC_000002.12:g.217847834C>T	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.His771Arg	rs754360873	missense variant	-	NC_000002.12:g.217847830T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.His771Tyr	COSM2150574	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847831G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser772Leu	rs533327665	missense variant	-	NC_000002.12:g.217847827G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly774Arg	COSM6090119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847822C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Pro776Ser	rs1191190808	missense variant	-	NC_000002.12:g.217847816G>A	gnomAD
TNS1	Q9HBL0	p.Pro776Leu	rs1234357785	missense variant	-	NC_000002.12:g.217847815G>A	TOPMed
TNS1	Q9HBL0	p.Glu777Gln	rs143009413	missense variant	-	NC_000002.12:g.217847813C>G	ESP
TNS1	Q9HBL0	p.Pro778Gln	rs774119211	missense variant	-	NC_000002.12:g.217847809G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala779Asp	rs200420863	missense variant	-	NC_000002.12:g.217847806G>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro780Leu	rs373342242	missense variant	-	NC_000002.12:g.217847803G>A	ESP,ExAC,gnomAD
TNS1	Q9HBL0	p.Pro780Ser	rs189799955	missense variant	-	NC_000002.12:g.217847804G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg781Pro	rs772107236	missense variant	-	NC_000002.12:g.217847800C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg781Gln	rs772107236	missense variant	-	NC_000002.12:g.217847800C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg781Trp	rs540388747	missense variant	-	NC_000002.12:g.217847801G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala782Ser	rs1232087218	missense variant	-	NC_000002.12:g.217847798C>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser783Tyr	rs748417743	missense variant	-	NC_000002.12:g.217847794G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser783Phe	rs748417743	missense variant	-	NC_000002.12:g.217847794G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser786Phe	rs1449513903	missense variant	-	NC_000002.12:g.217847785G>A	gnomAD
TNS1	Q9HBL0	p.Val787Phe	rs1057008329	missense variant	-	NC_000002.12:g.217847783C>A	TOPMed
TNS1	Q9HBL0	p.Pro788Leu	rs1258214177	missense variant	-	NC_000002.12:g.217847779G>A	gnomAD
TNS1	Q9HBL0	p.Pro788Ser	rs724159923	missense variant	-	NC_000002.12:g.217847780G>A	-
TNS1	Q9HBL0	p.Gly790Val	rs1415601997	missense variant	-	NC_000002.12:g.217847773C>A	gnomAD
TNS1	Q9HBL0	p.Gly790Ser	rs1003199061	missense variant	-	NC_000002.12:g.217847774C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro795Ser	rs1433505655	missense variant	-	NC_000002.12:g.217847759G>A	gnomAD
TNS1	Q9HBL0	p.Asp797His	rs756712481	missense variant	-	NC_000002.12:g.217847753C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr798Ser	rs1180167067	missense variant	-	NC_000002.12:g.217847749T>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln799His	rs199601582	missense variant	-	NC_000002.12:g.217847745C>G	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Cys801Tyr	rs147116178	missense variant	-	NC_000002.12:g.217847740C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Cys801Arg	rs767179961	missense variant	-	NC_000002.12:g.217847741A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala803Ser	rs751233413	missense variant	-	NC_000002.12:g.217847735C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro805Arg	rs1208851004	missense variant	-	NC_000002.12:g.217847728G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn806His	rs141901890	missense variant	-	NC_000002.12:g.217847726T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp808Val	rs1225739671	missense variant	-	NC_000002.12:g.217847719T>A	gnomAD
TNS1	Q9HBL0	p.His810Tyr	rs1316443445	missense variant	-	NC_000002.12:g.217847714G>A	TOPMed
TNS1	Q9HBL0	p.His810Arg	rs759508942	missense variant	-	NC_000002.12:g.217847713T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys812Arg	rs1205380363	missense variant	-	NC_000002.12:g.217847707T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser813Ile	rs1449130032	missense variant	-	NC_000002.12:g.217847704C>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala815Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217847698G>A	NCI-TCGA
TNS1	Q9HBL0	p.Ala815Asp	rs1219411306	missense variant	-	NC_000002.12:g.217847698G>T	TOPMed
TNS1	Q9HBL0	p.Ser817Phe	rs774230307	missense variant	-	NC_000002.12:g.217847692G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser818Tyr	rs749424786	missense variant	-	NC_000002.12:g.217847689G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro820Ser	rs1406702679	missense variant	-	NC_000002.12:g.217847684G>A	gnomAD
TNS1	Q9HBL0	p.Phe822Tyr	rs770255073	missense variant	-	NC_000002.12:g.217847677A>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu823Arg	rs781762364	missense variant	-	NC_000002.12:g.217847674A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro824Leu	rs567400983	missense variant	-	NC_000002.12:g.217847671G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr825Ile	rs751089957	missense variant	-	NC_000002.12:g.217847668G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr825Ala	rs1412575268	missense variant	-	NC_000002.12:g.217847669T>C	TOPMed
TNS1	Q9HBL0	p.Ser828Asn	rs1283759236	missense variant	-	NC_000002.12:g.217847659C>T	gnomAD
TNS1	Q9HBL0	p.Gln833Arg	rs752258617	missense variant	-	NC_000002.12:g.217847644T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro835Ser	rs367588026	missense variant	-	NC_000002.12:g.217847639G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro835Thr	rs367588026	missense variant	-	NC_000002.12:g.217847639G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro836Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217847635G>T	NCI-TCGA
TNS1	Q9HBL0	p.Pro836Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217847636G>C	NCI-TCGA
TNS1	Q9HBL0	p.Ser838Pro	rs766308521	missense variant	-	NC_000002.12:g.217847630A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu839Phe	rs760473150	missense variant	-	NC_000002.12:g.217847627G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu839Arg	rs1344259072	missense variant	-	NC_000002.12:g.217847626A>C	gnomAD
TNS1	Q9HBL0	p.Pro840Ser	rs774513166	missense variant	-	NC_000002.12:g.217847624G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly841Asp	rs1406712269	missense variant	-	NC_000002.12:g.217847620C>T	gnomAD
TNS1	Q9HBL0	p.Thr843Asn	rs1163934227	missense variant	-	NC_000002.12:g.217847614G>T	gnomAD
TNS1	Q9HBL0	p.Ala844Val	rs770344637	missense variant	-	NC_000002.12:g.217847611G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala844Thr	rs775556360	missense variant	-	NC_000002.12:g.217847612C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala844Pro	rs775556360	missense variant	-	NC_000002.12:g.217847612C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln845Glu	rs1188374931	missense variant	-	NC_000002.12:g.217847609G>C	gnomAD
TNS1	Q9HBL0	p.Leu848Phe	rs1484907021	missense variant	-	NC_000002.12:g.217847600G>A	gnomAD
TNS1	Q9HBL0	p.Ser849Leu	COSM418873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847596G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Pro850Thr	rs775327512	missense variant	-	NC_000002.12:g.217847594G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro850Ser	rs775327512	missense variant	-	NC_000002.12:g.217847594G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu852Lys	rs1469982283	missense variant	-	NC_000002.12:g.217847588C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala853Val	rs139522869	missense variant	-	NC_000002.12:g.217847584G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala853Glu	rs139522869	missense variant	-	NC_000002.12:g.217847584G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr854Ile	rs566694767	missense variant	-	NC_000002.12:g.217847581G>A	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Asp856Val	rs1402675784	missense variant	-	NC_000002.12:g.217847575T>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp856Gly	rs1402675784	missense variant	-	NC_000002.12:g.217847575T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro857Ser	rs752451216	missense variant	-	NC_000002.12:g.217847573G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro857Thr	rs752451216	missense variant	-	NC_000002.12:g.217847573G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg859Trp	rs61746994	missense variant	-	NC_000002.12:g.217847567G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg859Gln	rs754558568	missense variant	-	NC_000002.12:g.217847566C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro861Ser	rs1194035054	missense variant	-	NC_000002.12:g.217847561G>A	TOPMed
TNS1	Q9HBL0	p.Pro861Leu	rs1236550155	missense variant	-	NC_000002.12:g.217847560G>A	TOPMed
TNS1	Q9HBL0	p.Glu864Asp	rs760699745	missense variant	-	NC_000002.12:g.217847550C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro865Leu	rs750300085	missense variant	-	NC_000002.12:g.217847548G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu866Phe	rs1324977526	missense variant	-	NC_000002.12:g.217847544C>A	gnomAD
TNS1	Q9HBL0	p.Asn867Asp	rs533297763	missense variant	-	NC_000002.12:g.217847543T>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Asn867Thr	COSM1016268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847542T>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Glu869Lys	rs146606722	missense variant	-	NC_000002.12:g.217847537C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly870Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217847533C>T	NCI-TCGA
TNS1	Q9HBL0	p.Gly870Arg	rs1168284402	missense variant	-	NC_000002.12:g.217847534C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu871Arg	rs775925102	missense variant	-	NC_000002.12:g.217847530A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Val872Met	rs1158596804	missense variant	-	NC_000002.12:g.217847528C>T	TOPMed
TNS1	Q9HBL0	p.Ala873Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217847524G>A	NCI-TCGA
TNS1	Q9HBL0	p.Ala873Gly	rs759780230	missense variant	-	NC_000002.12:g.217847524G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala873Thr	rs765565136	missense variant	-	NC_000002.12:g.217847525C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His874Tyr	rs1167058357	missense variant	-	NC_000002.12:g.217847522G>A	gnomAD
TNS1	Q9HBL0	p.Arg875Ser	rs1474159591	missense variant	-	NC_000002.12:g.217847517C>G	gnomAD
TNS1	Q9HBL0	p.Val876Ile	rs146943559	missense variant	-	NC_000002.12:g.217847516C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala877Thr	rs550744297	missense variant	-	NC_000002.12:g.217847513C>T	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Val879Ala	rs1278710166	missense variant	-	NC_000002.12:g.217836208A>G	gnomAD
TNS1	Q9HBL0	p.Gln880His	rs753904352	missense variant	-	NC_000002.12:g.217836204C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg882Gln	rs200499669	missense variant	-	NC_000002.12:g.217836199C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg882Leu	rs200499669	missense variant	-	NC_000002.12:g.217836199C>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg882Trp	rs1328320319	missense variant	-	NC_000002.12:g.217836200G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu883Lys	rs768109006	missense variant	-	NC_000002.12:g.217836197C>T	NCI-TCGA
TNS1	Q9HBL0	p.Glu883Lys	rs768109006	missense variant	-	NC_000002.12:g.217836197C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu883Gly	rs762123934	missense variant	-	NC_000002.12:g.217836196T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu883Asp	COSM1016266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836195C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Glu883Ala	COSM1016267	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836196T>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Lys884Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217836194T>C	NCI-TCGA
TNS1	Q9HBL0	p.Lys884Arg	rs199952375	missense variant	-	NC_000002.12:g.217836193T>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro886Ala	rs1394430360	missense variant	-	NC_000002.12:g.217836188G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala887Thr	rs1476661290	missense variant	-	NC_000002.12:g.217836185C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala887Val	rs768237080	missense variant	-	NC_000002.12:g.217836184G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala887Thr	rs1476661290	missense variant	-	NC_000002.12:g.217836185C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro889Ser	rs1286690610	missense variant	-	NC_000002.12:g.217836179G>A	TOPMed
TNS1	Q9HBL0	p.Ala891Val	rs775275964	missense variant	-	NC_000002.12:g.217836172G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala891Gly	rs775275964	missense variant	-	NC_000002.12:g.217836172G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala891Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217836173C>A	NCI-TCGA
TNS1	Q9HBL0	p.Pro892LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217836169G>-	NCI-TCGA
TNS1	Q9HBL0	p.Pro892Leu	rs769170290	missense variant	-	NC_000002.12:g.217836169G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg894Gln	rs750186190	missense variant	-	NC_000002.12:g.217836163C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg894Trp	rs745427493	missense variant	-	NC_000002.12:g.217836164G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg896Trp	rs201163809	missense variant	-	NC_000002.12:g.217836158G>A	NCI-TCGA,NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg896Gln	rs746744855	missense variant	-	NC_000002.12:g.217836157C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg896Trp	rs201163809	missense variant	-	NC_000002.12:g.217836158G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala897Val	rs777716939	missense variant	-	NC_000002.12:g.217836154G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala898Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217836152C>T	NCI-TCGA
TNS1	Q9HBL0	p.Asp900Asn	rs754099693	missense variant	-	NC_000002.12:g.217836146C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr903Cys	rs1468313247	missense variant	-	NC_000002.12:g.217836136T>C	gnomAD
TNS1	Q9HBL0	p.Glu904Lys	rs780372233	missense variant	-	NC_000002.12:g.217836134C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu904Gln	COSM4833700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836134C>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Glu904Asp	COSM1016265	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836132C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gln906Arg	rs957576016	missense variant	-	NC_000002.12:g.217836127T>C	TOPMed
TNS1	Q9HBL0	p.Ser907Tyr	rs1336736255	missense variant	-	NC_000002.12:g.217836124G>T	TOPMed
TNS1	Q9HBL0	p.Ser907Pro	COSM4091361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836125A>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Glu909Lys	rs1329946725	missense variant	-	NC_000002.12:g.217836119C>T	gnomAD
TNS1	Q9HBL0	p.Thr911Lys	rs767860513	missense variant	-	NC_000002.12:g.217836112G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr911Pro	rs750546121	missense variant	-	NC_000002.12:g.217836113T>G	ExAC
TNS1	Q9HBL0	p.Ser912Tyr	rs762318273	missense variant	-	NC_000002.12:g.217836109G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser912Phe	rs762318273	missense variant	-	NC_000002.12:g.217836109G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro913Leu	rs141836163	missense variant	-	NC_000002.12:g.217836106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro913Ala	rs373575970	missense variant	-	NC_000002.12:g.217836107G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro913His	COSM4913074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836106G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg914His	rs186255060	missense variant	-	NC_000002.12:g.217836103C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg914Pro	rs186255060	missense variant	-	NC_000002.12:g.217836103C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg914Cys	rs1274478864	missense variant	-	NC_000002.12:g.217836104G>A	TOPMed
TNS1	Q9HBL0	p.Arg914Leu	rs186255060	missense variant	-	NC_000002.12:g.217836103C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg914His	rs186255060	missense variant	-	NC_000002.12:g.217836103C>T	NCI-TCGA,NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser915Asn	rs145224148	missense variant	-	NC_000002.12:g.217836100C>T	ESP,TOPMed
TNS1	Q9HBL0	p.Gly917Glu	rs1233303047	missense variant	-	NC_000002.12:g.217836094C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly917Ala	rs1233303047	missense variant	-	NC_000002.12:g.217836094C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Val918Asp	rs140634729	missense variant	-	NC_000002.12:g.217836091A>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val918Phe	rs758924814	missense variant	-	NC_000002.12:g.217836092C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Val918Ile	rs758924814	missense variant	-	NC_000002.12:g.217836092C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Val918Phe	rs758924814	missense variant	-	NC_000002.12:g.217836092C>A	NCI-TCGA,NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg919Cys	rs115718079	missense variant	-	NC_000002.12:g.217836089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg919Leu	rs777917136	missense variant	-	NC_000002.12:g.217836088C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg919His	rs777917136	missense variant	-	NC_000002.12:g.217836088C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser920Pro	rs1282537114	missense variant	-	NC_000002.12:g.217836086A>G	gnomAD
TNS1	Q9HBL0	p.Ser920Cys	rs1038638493	missense variant	-	NC_000002.12:g.217836085G>C	TOPMed
TNS1	Q9HBL0	p.Ser920Phe	COSM3909581	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836085G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Pro921Ser	rs748014803	missense variant	-	NC_000002.12:g.217836083G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln923Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.217836077G>A	NCI-TCGA
TNS1	Q9HBL0	p.Gln923Leu	rs780098748	missense variant	-	NC_000002.12:g.217836076T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Cys924Tyr	rs941704932	missense variant	-	NC_000002.12:g.217836073C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Val925Ala	rs374981803	missense variant	-	NC_000002.12:g.217836070A>G	ESP,ExAC,gnomAD
TNS1	Q9HBL0	p.Ser926Phe	rs781334365	missense variant	-	NC_000002.12:g.217836067G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser926Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217836068A>C	NCI-TCGA
TNS1	Q9HBL0	p.Ser926Cys	rs781334365	missense variant	-	NC_000002.12:g.217836067G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro927Leu	rs752044847	missense variant	-	NC_000002.12:g.217836064G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro927Thr	rs150803815	missense variant	-	NC_000002.12:g.217836065G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro927Ala	rs150803815	missense variant	-	NC_000002.12:g.217836065G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu928Lys	rs928440670	missense variant	-	NC_000002.12:g.217836062C>T	TOPMed
TNS1	Q9HBL0	p.Ala930Thr	rs758726343	missense variant	-	NC_000002.12:g.217836056C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu931Phe	rs1433717152	missense variant	-	NC_000002.12:g.217836053G>A	gnomAD
TNS1	Q9HBL0	p.Ala934Thr	rs143523583	missense variant	-	NC_000002.12:g.217836044C>T	NCI-TCGA,NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala934Ser	rs143523583	missense variant	-	NC_000002.12:g.217836044C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala934Thr	rs143523583	missense variant	-	NC_000002.12:g.217836044C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala934Pro	rs143523583	missense variant	-	NC_000002.12:g.217836044C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala934Asp	rs1468369100	missense variant	-	NC_000002.12:g.217836043G>T	gnomAD
TNS1	Q9HBL0	p.Leu935Val	rs1304192132	missense variant	-	NC_000002.12:g.217836041G>C	TOPMed
TNS1	Q9HBL0	p.Asn936His	rs988615245	missense variant	-	NC_000002.12:g.217836038T>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro937His	rs956761528	missense variant	-	NC_000002.12:g.217836034G>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro937Arg	rs956761528	missense variant	-	NC_000002.12:g.217836034G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg940Trp	rs776215061	missense variant	-	NC_000002.12:g.217836026G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg940Gln	rs1259777988	missense variant	-	NC_000002.12:g.217836025C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg940Gln	rs1259777988	missense variant	-	NC_000002.12:g.217836025C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Lys942Glu	rs760311232	missense variant	-	NC_000002.12:g.217836020T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro944His	rs753507838	missense variant	-	NC_000002.12:g.217835165G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro944Arg	rs753507838	missense variant	-	NC_000002.12:g.217835165G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu946Phe	rs760223263	missense variant	-	NC_000002.12:g.217835158C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.His947Asp	rs772869891	missense variant	-	NC_000002.12:g.217835157G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His947Asn	rs772869891	missense variant	-	NC_000002.12:g.217835157G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser948Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217835153C>G	NCI-TCGA
TNS1	Q9HBL0	p.Tyr949His	rs1337608948	missense variant	-	NC_000002.12:g.217835151A>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala952Val	rs199542563	missense variant	-	NC_000002.12:g.217835141G>A	1000Genomes,gnomAD
TNS1	Q9HBL0	p.Ala952Thr	rs1409611206	missense variant	-	NC_000002.12:g.217835142C>T	TOPMed
TNS1	Q9HBL0	p.Glu954Asp	rs761813057	missense variant	-	NC_000002.12:g.217835134C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu954Lys	rs1271417746	missense variant	-	NC_000002.12:g.217835136C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Glu954Lys	rs1271417746	missense variant	-	NC_000002.12:g.217835136C>T	gnomAD
TNS1	Q9HBL0	p.Met956Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217835130T>A	NCI-TCGA
TNS1	Q9HBL0	p.Met956Arg	rs774220117	missense variant	-	NC_000002.12:g.217835129A>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met956Thr	rs774220117	missense variant	-	NC_000002.12:g.217835129A>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr959Ile	rs1462776294	missense variant	-	NC_000002.12:g.217835120G>A	gnomAD
TNS1	Q9HBL0	p.Ser960Phe	rs1392241595	missense variant	-	NC_000002.12:g.217835117G>A	gnomAD
TNS1	Q9HBL0	p.Pro961Leu	rs749081810	missense variant	-	NC_000002.12:g.217835114G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro961Ala	rs141023083	missense variant	-	NC_000002.12:g.217835115G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro961Thr	rs141023083	missense variant	-	NC_000002.12:g.217835115G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser963Asn	rs771168811	missense variant	-	NC_000002.12:g.217835108C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser963Gly	rs201800226	missense variant	-	NC_000002.12:g.217835109T>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro966Ser	rs777837868	missense variant	-	NC_000002.12:g.217835100G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro966Ala	rs777837868	missense variant	-	NC_000002.12:g.217835100G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro966Thr	rs777837868	missense variant	-	NC_000002.12:g.217835100G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser967Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217835097T>A	NCI-TCGA
TNS1	Q9HBL0	p.Ser967Asn	rs145825540	missense variant	-	NC_000002.12:g.217835096C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly968Arg	rs1271631222	missense variant	-	NC_000002.12:g.217835094C>T	gnomAD
TNS1	Q9HBL0	p.Gly968Glu	rs779338381	missense variant	-	NC_000002.12:g.217835093C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val969Met	rs1308595202	missense variant	-	NC_000002.12:g.217835091C>T	gnomAD
TNS1	Q9HBL0	p.Arg970Trp	rs542492773	missense variant	-	NC_000002.12:g.217831545G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg970Gln	rs373055196	missense variant	-	NC_000002.12:g.217831544C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg970Trp	rs542492773	missense variant	-	NC_000002.12:g.217831545G>A	NCI-TCGA,NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser971Phe	rs750084484	missense variant	-	NC_000002.12:g.217831541G>A	NCI-TCGA
TNS1	Q9HBL0	p.Ser971Tyr	rs750084484	missense variant	-	NC_000002.12:g.217831541G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser971Cys	rs750084484	missense variant	-	NC_000002.12:g.217831541G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser971Phe	rs750084484	missense variant	-	NC_000002.12:g.217831541G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro972Ser	rs780753977	missense variant	-	NC_000002.12:g.217831539G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro973Leu	rs756756642	missense variant	-	NC_000002.12:g.217831535G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro973ArgPheSerTerUnkUnk	COSM1405404	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217831535G>-	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gly974Ser	rs751059536	missense variant	-	NC_000002.12:g.217831533C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly974Cys	rs751059536	missense variant	-	NC_000002.12:g.217831533C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu975Val	rs1483009731	missense variant	-	NC_000002.12:g.217831530G>C	gnomAD
TNS1	Q9HBL0	p.Leu975SerPheSerTerUnkUnk	rs780920211	frameshift	-	NC_000002.12:g.217831534_217831535insG	NCI-TCGA,NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala976Val	rs779522316	missense variant	-	NC_000002.12:g.217831526G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys977Gln	rs1251803674	missense variant	-	NC_000002.12:g.217831524T>G	gnomAD
TNS1	Q9HBL0	p.Lys977Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217831522C>A	NCI-TCGA
TNS1	Q9HBL0	p.Thr978Arg	COSM3372639	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217831520G>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Pro979Ser	rs752700908	missense variant	-	NC_000002.12:g.217831518G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro979Thr	rs752700908	missense variant	-	NC_000002.12:g.217831518G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro979Ala	rs752700908	missense variant	-	NC_000002.12:g.217831518G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly984Val	rs564618564	missense variant	-	NC_000002.12:g.217831502C>A	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Gly984Asp	COSM4091358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217831502C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Leu985Val	rs1355933390	missense variant	-	NC_000002.12:g.217831500G>C	gnomAD
TNS1	Q9HBL0	p.Lys986Asn	rs1016644786	missense variant	-	NC_000002.12:g.217831495T>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro987Leu	rs772216011	missense variant	-	NC_000002.12:g.217831493G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro990Ala	rs769139168	missense variant	-	NC_000002.12:g.217831485G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro990Ser	rs769139168	missense variant	-	NC_000002.12:g.217831485G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala991Val	rs139665137	missense variant	-	NC_000002.12:g.217831481G>A	NCI-TCGA
TNS1	Q9HBL0	p.Ala991Val	rs139665137	missense variant	-	NC_000002.12:g.217831481G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp992His	rs1419142046	missense variant	-	NC_000002.12:g.217831479C>G	gnomAD
TNS1	Q9HBL0	p.Leu995Ser	rs1254838225	missense variant	-	NC_000002.12:g.217831469A>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro997Ser	rs1205411606	missense variant	-	NC_000002.12:g.217831464G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro997Thr	rs1205411606	missense variant	-	NC_000002.12:g.217831464G>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro997Leu	rs1486638838	missense variant	-	NC_000002.12:g.217831463G>A	gnomAD
TNS1	Q9HBL0	p.Thr998Ile	rs780854400	missense variant	-	NC_000002.12:g.217831460G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val1000Ile	rs1274927291	missense variant	-	NC_000002.12:g.217831455C>T	gnomAD
TNS1	Q9HBL0	p.Thr1001Ser	rs1473252532	missense variant	-	NC_000002.12:g.217830388T>A	TOPMed
TNS1	Q9HBL0	p.Arg1004Trp	rs3796028	missense variant	-	NC_000002.12:g.217830379G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1004Gln	rs375058582	missense variant	-	NC_000002.12:g.217830378C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ile1005Met	rs1473590300	missense variant	-	NC_000002.12:g.217830374G>C	TOPMed
TNS1	Q9HBL0	p.Gln1006Ter	rs1254733898	stop gained	-	NC_000002.12:g.217830373G>A	gnomAD
TNS1	Q9HBL0	p.Glu1008Lys	COSM6090121	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217830367C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gly1012Ala	rs201342737	missense variant	-	NC_000002.12:g.217829870C>G	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys1013Gln	rs755831374	missense variant	-	NC_000002.12:g.217829868T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1014Met	rs750261040	missense variant	-	NC_000002.12:g.217829865C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1016Phe	rs1331841929	missense variant	-	NC_000002.12:g.217829859C>A	gnomAD
TNS1	Q9HBL0	p.Val1016Ala	rs374469332	missense variant	-	NC_000002.12:g.217829858A>G	ESP
TNS1	Q9HBL0	p.Leu1018Val	rs1385482269	missense variant	-	NC_000002.12:g.217829853G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu1018Pro	rs753038633	missense variant	-	NC_000002.12:g.217829852A>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu1018Arg	rs753038633	missense variant	-	NC_000002.12:g.217829852A>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1022Thr	rs1190947465	missense variant	-	NC_000002.12:g.217821936G>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1022Ser	rs1190947465	missense variant	-	NC_000002.12:g.217821936G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1023Gln	rs142672992	missense variant	-	NC_000002.12:g.217821932C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1023Trp	rs779322372	missense variant	-	NC_000002.12:g.217821933G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr1025Asp	rs1033797817	missense variant	-	NC_000002.12:g.217821927A>C	TOPMed
TNS1	Q9HBL0	p.Val1026Met	rs766740679	missense variant	-	NC_000002.12:g.217821924C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu1027Val	rs112371945	missense variant	-	NC_000002.12:g.217821920T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1030Ser	rs750994181	missense variant	-	NC_000002.12:g.217821912C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1031Gln	rs762213864	missense variant	-	NC_000002.12:g.217821908C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1031Gln	rs762213864	missense variant	-	NC_000002.12:g.217821908C>T	NCI-TCGA
TNS1	Q9HBL0	p.Arg1031Trp	rs370481778	missense variant	-	NC_000002.12:g.217821909G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1031Pro	rs762213864	missense variant	-	NC_000002.12:g.217821908C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1032Ala	rs773961481	missense variant	-	NC_000002.12:g.217821906T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1032Ile	rs980170611	missense variant	-	NC_000002.12:g.217821905G>A	TOPMed
TNS1	Q9HBL0	p.Thr1032Pro	rs773961481	missense variant	-	NC_000002.12:g.217821906T>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1033Thr	rs1421698835	missense variant	-	NC_000002.12:g.217821903C>T	gnomAD
TNS1	Q9HBL0	p.Ala1033Val	rs768382919	missense variant	-	NC_000002.12:g.217821902G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1036Glu	rs1464572260	missense variant	-	NC_000002.12:g.217821893C>T	gnomAD
TNS1	Q9HBL0	p.Pro1037Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217821891G>C	NCI-TCGA
TNS1	Q9HBL0	p.Arg1038Ter	rs1347992348	stop gained	-	NC_000002.12:g.217821888G>A	gnomAD
TNS1	Q9HBL0	p.Arg1038Gln	rs1021945998	missense variant	-	NC_000002.12:g.217821887C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln1040Arg	rs775077021	missense variant	-	NC_000002.12:g.217821881T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1042Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217821875G>C	NCI-TCGA
TNS1	Q9HBL0	p.Ser1042Pro	rs956029633	missense variant	-	NC_000002.12:g.217821876A>G	TOPMed
TNS1	Q9HBL0	p.Glu1043Asp	rs769548964	missense variant	-	NC_000002.12:g.217821871C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1044Ser	rs745791045	missense variant	-	NC_000002.12:g.217821870G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1044Thr	rs745791045	missense variant	-	NC_000002.12:g.217821870G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys1045Arg	rs1215275775	missense variant	-	NC_000002.12:g.217821866T>C	TOPMed
TNS1	Q9HBL0	p.Lys1045Asn	rs1266335280	missense variant	-	NC_000002.12:g.217821865C>G	TOPMed
TNS1	Q9HBL0	p.Ser1046Asn	rs1389947940	missense variant	-	NC_000002.12:g.217821863C>T	gnomAD
TNS1	Q9HBL0	p.Ser1048Gly	rs776760155	missense variant	-	NC_000002.12:g.217821858T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1048Arg	rs776760155	missense variant	-	NC_000002.12:g.217821858T>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1049Thr	rs1489765457	missense variant	-	NC_000002.12:g.217821855C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1050Ser	rs377220929	missense variant	-	NC_000002.12:g.217821852G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1051Pro	rs575250579	missense variant	-	NC_000002.12:g.217821849C>G	1000Genomes
TNS1	Q9HBL0	p.Thr1052Asn	COSM1016263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217821845G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala1054Gly	rs1469642761	missense variant	-	NC_000002.12:g.217821839G>C	gnomAD
TNS1	Q9HBL0	p.Glu1058Asp	rs746834871	missense variant	-	NC_000002.12:g.217821826C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1060Ser	rs778953855	missense variant	-	NC_000002.12:g.217821822G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1060Thr	rs778953855	missense variant	-	NC_000002.12:g.217821822G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1060Leu	rs1225807730	missense variant	-	NC_000002.12:g.217821821G>A	gnomAD
TNS1	Q9HBL0	p.Arg1062Ser	rs1183345866	missense variant	-	NC_000002.12:g.217821814C>G	TOPMed
TNS1	Q9HBL0	p.Gly1064Arg	rs1220693327	missense variant	-	NC_000002.12:g.217821810C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1064Arg	rs1220693327	missense variant	-	NC_000002.12:g.217821810C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1065Asn	rs77931866	missense variant	-	NC_000002.12:g.217821806G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu1066Gln	rs1371312122	missense variant	-	NC_000002.12:g.217821803A>T	gnomAD
TNS1	Q9HBL0	p.Gly1067Asp	rs750907005	missense variant	-	NC_000002.12:g.217821800C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1073Ser	rs1435318286	missense variant	-	NC_000002.12:g.217821783G>A	gnomAD
TNS1	Q9HBL0	p.Ser1074Arg	rs922318017	missense variant	-	NC_000002.12:g.217821778G>C	TOPMed
TNS1	Q9HBL0	p.Ser1074Arg	rs922318017	missense variant	-	NC_000002.12:g.217821778G>T	TOPMed
TNS1	Q9HBL0	p.Ser1074Arg	rs922318017	missense variant	-	NC_000002.12:g.217821778G>C	NCI-TCGA
TNS1	Q9HBL0	p.Ser1074Asn	COSM442300	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217821779C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser1077Cys	rs763593785	missense variant	-	NC_000002.12:g.217821770G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1077Tyr	COSM1405403	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217821770G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Thr1078Ala	rs1380279277	missense variant	-	NC_000002.12:g.217821768T>C	TOPMed
TNS1	Q9HBL0	p.Ser1080Arg	rs764784964	missense variant	-	NC_000002.12:g.217821760G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1081Ser	rs759161200	missense variant	-	NC_000002.12:g.217821759G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1085Pro	rs1310273628	missense variant	-	NC_000002.12:g.217821747C>G	gnomAD
TNS1	Q9HBL0	p.Gly1091Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818748C>A	NCI-TCGA
TNS1	Q9HBL0	p.Ser1092Asn	rs943078552	missense variant	-	NC_000002.12:g.217818745C>T	gnomAD
TNS1	Q9HBL0	p.Phe1093Leu	VAR_048004	Missense	-	-	UniProt
TNS1	Q9HBL0	p.Pro1094Leu	rs149785174	missense variant	-	NC_000002.12:g.217818739G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1095Leu	rs201342133	missense variant	-	NC_000002.12:g.217818736G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu1097Gln	rs1247020581	missense variant	-	NC_000002.12:g.217818731C>G	gnomAD
TNS1	Q9HBL0	p.Glu1097Asp	rs981838738	missense variant	-	NC_000002.12:g.217818729C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1098Ile	rs1185623310	missense variant	-	NC_000002.12:g.217818727C>A	TOPMed
TNS1	Q9HBL0	p.Ser1098Arg	rs139688576	missense variant	-	NC_000002.12:g.217818726G>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1098Gly	rs761552215	missense variant	-	NC_000002.12:g.217818728T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp1100Glu	rs1367870989	missense variant	-	NC_000002.12:g.217818720G>C	gnomAD
TNS1	Q9HBL0	p.Gly1102Cys	rs770021903	missense variant	-	NC_000002.12:g.217818716C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1102Ser	rs770021903	missense variant	-	NC_000002.12:g.217818716C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1102Arg	rs770021903	missense variant	-	NC_000002.12:g.217818716C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1103Thr	COSM4392890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818713G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg1104Trp	rs373946458	missense variant	-	NC_000002.12:g.217818710G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1104Gln	rs781250276	missense variant	-	NC_000002.12:g.217818709C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1105Met	rs150702291	missense variant	-	NC_000002.12:g.217818706G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1107Ile	rs778651964	missense variant	-	NC_000002.12:g.217818700G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1107Pro	rs200296660	missense variant	-	NC_000002.12:g.217818701T>G	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1107Ala	rs200296660	missense variant	-	NC_000002.12:g.217818701T>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1107Ser	rs778651964	missense variant	-	NC_000002.12:g.217818700G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1109Leu	rs1388094835	missense variant	-	NC_000002.12:g.217818694G>A	gnomAD
TNS1	Q9HBL0	p.Leu1110Gln	rs753614446	missense variant	-	NC_000002.12:g.217818691A>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu1112Lys	COSM4393932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818686C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser1113Phe	rs1269328427	missense variant	-	NC_000002.12:g.217818682G>A	gnomAD
TNS1	Q9HBL0	p.Gly1114Ala	rs201310757	missense variant	-	NC_000002.12:g.217818679C>G	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1114Val	rs201310757	missense variant	-	NC_000002.12:g.217818679C>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Phe1115Tyr	rs767385772	missense variant	-	NC_000002.12:g.217818676A>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1116His	rs61745431	missense variant	-	NC_000002.12:g.217818673C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1116Cys	rs151035362	missense variant	-	NC_000002.12:g.217818674G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1118Ser	rs1295883986	missense variant	-	NC_000002.12:g.217818668C>T	gnomAD
TNS1	Q9HBL0	p.Ser1119Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818664C>T	NCI-TCGA
TNS1	Q9HBL0	p.Pro1123Leu	rs200802885	missense variant	-	NC_000002.12:g.217818652G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1123Ser	rs776894221	missense variant	-	NC_000002.12:g.217818653G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1124Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818649C>T	NCI-TCGA
TNS1	Q9HBL0	p.Pro1125Leu	rs370635239	missense variant	-	NC_000002.12:g.217818646G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1127Val	COSM4091354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818640G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg1129Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818634C>A	NCI-TCGA
TNS1	Q9HBL0	p.Asn1130Lys	rs1368294391	missense variant	-	NC_000002.12:g.217818630G>C	gnomAD
TNS1	Q9HBL0	p.Tyr1131Asn	rs1214846935	missense variant	-	NC_000002.12:g.217818629A>T	TOPMed
TNS1	Q9HBL0	p.Pro1136Leu	rs779415669	missense variant	-	NC_000002.12:g.217818613G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1138Leu	rs139542436	missense variant	-	NC_000002.12:g.217818607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1143Thr	rs1272797333	missense variant	-	NC_000002.12:g.217818592C>G	gnomAD
TNS1	Q9HBL0	p.Ser1143Arg	rs1195398322	missense variant	-	NC_000002.12:g.217818591G>C	gnomAD
TNS1	Q9HBL0	p.Tyr1144Cys	rs779890409	missense variant	-	NC_000002.12:g.217818589T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1146Arg	rs1429249801	missense variant	-	NC_000002.12:g.217818582G>T	gnomAD
TNS1	Q9HBL0	p.Asp1148Asn	rs184451758	missense variant	-	NC_000002.12:g.217818578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr1149Cys	rs767427826	missense variant	-	NC_000002.12:g.217818574T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln1152Ter	rs757142321	stop gained	-	NC_000002.12:g.217818566G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1156Phe	rs763860864	missense variant	-	NC_000002.12:g.217818553G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1157Phe	rs776797654	missense variant	-	NC_000002.12:g.217818550G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1158Leu	rs375633988	missense variant	-	NC_000002.12:g.217818547G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1158Thr	rs1170588432	missense variant	-	NC_000002.12:g.217818548G>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1162Asp	rs1343736249	missense variant	-	NC_000002.12:g.217818535G>T	TOPMed
TNS1	Q9HBL0	p.Arg1163Gln	rs1473628701	missense variant	-	NC_000002.12:g.217818532C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1164Thr	rs1181370087	missense variant	-	NC_000002.12:g.217818530C>T	gnomAD
TNS1	Q9HBL0	p.Gln1165Pro	rs748591890	missense variant	-	NC_000002.12:g.217818526T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Phe1166Leu	rs1374979915	missense variant	-	NC_000002.12:g.217818522G>C	TOPMed
TNS1	Q9HBL0	p.Ser1167Thr	rs775049558	missense variant	-	NC_000002.12:g.217818520C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1167Asn	rs775049558	missense variant	-	NC_000002.12:g.217818520C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1169Asp	rs1199072597	missense variant	-	NC_000002.12:g.217818514G>T	gnomAD
TNS1	Q9HBL0	p.Gly1170Ser	rs769109703	missense variant	-	NC_000002.12:g.217818512C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val1171Ile	rs745306101	missense variant	-	NC_000002.12:g.217818509C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val1171Gly	rs780559604	missense variant	-	NC_000002.12:g.217818508A>C	ExAC
TNS1	Q9HBL0	p.Thr1173Met	rs138956630	missense variant	-	NC_000002.12:g.217818502G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1175Leu	rs149583172	missense variant	-	NC_000002.12:g.217818496G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1176Arg	rs752506605	missense variant	-	NC_000002.12:g.217818494C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1177Asn	rs978022183	missense variant	-	NC_000002.12:g.217818490C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1178Leu	COSM3909580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818487G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gln1179Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.217818485G>A	NCI-TCGA
TNS1	Q9HBL0	p.Gln1179Glu	COSM1306417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818485G>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala1180Val	rs549005226	missense variant	-	NC_000002.12:g.217818481G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1181His	rs767473683	missense variant	-	NC_000002.12:g.217818478C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1181Cys	rs773542085	missense variant	-	NC_000002.12:g.217818479G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1183Ile	rs761995104	missense variant	-	NC_000002.12:g.217818472C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1183Lys	rs761995104	missense variant	-	NC_000002.12:g.217818472C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1185Leu	rs964824123	missense variant	-	NC_000002.12:g.217818467C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1186Val	rs774957474	missense variant	-	NC_000002.12:g.217818463C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn1188Tyr	rs769307871	missense variant	-	NC_000002.12:g.217818458T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1189Ile	rs749605553	missense variant	-	NC_000002.12:g.217818454G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1190Ser	rs147629696	missense variant	-	NC_000002.12:g.217818452G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1190Ala	rs147629696	missense variant	-	NC_000002.12:g.217818452G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1191Ser	rs267599205	missense variant	-	NC_000002.12:g.217818449G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1191Leu	rs376324480	missense variant	-	NC_000002.12:g.217818448G>A	ESP,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1191Ala	rs267599205	missense variant	-	NC_000002.12:g.217818449G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Phe1195Leu	rs746547539	missense variant	-	NC_000002.12:g.217818437A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly1196Ser	rs560632147	missense variant	-	NC_000002.12:g.217818434C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1196Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818434C>A	NCI-TCGA
TNS1	Q9HBL0	p.Trp1197Ter	rs202172136	stop gained	-	NC_000002.12:g.217818430C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Trp1197Arg	rs2571445	missense variant	-	NC_000002.12:g.217818431A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Trp1197Arg	rs2571445	missense variant	-	NC_000002.12:g.217818431A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1198Trp	rs754852414	missense variant	-	NC_000002.12:g.217818428G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1198Gln	rs369393471	missense variant	-	NC_000002.12:g.217818427C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ile1200Phe	rs767810144	missense variant	-	NC_000002.12:g.217818422T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ile1200Met	rs1240635984	missense variant	-	NC_000002.12:g.217818420G>C	TOPMed
TNS1	Q9HBL0	p.Asn1201Ser	rs934348126	missense variant	-	NC_000002.12:g.217818418T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1202Ser	rs34291329	missense variant	-	NC_000002.12:g.217818416G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1206Val	rs1444164990	missense variant	-	NC_000002.12:g.217818403G>A	gnomAD
TNS1	Q9HBL0	p.Pro1207Leu	rs544348080	missense variant	-	NC_000002.12:g.217818400G>A	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1207Ser	rs1190890551	missense variant	-	NC_000002.12:g.217818401G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1208Gly	rs764628379	missense variant	-	NC_000002.12:g.217818398T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1209Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818394C>T	NCI-TCGA
TNS1	Q9HBL0	p.Ser1211Cys	rs1436713743	missense variant	-	NC_000002.12:g.217818389T>A	TOPMed
TNS1	Q9HBL0	p.Ser1211Ile	rs1222896253	missense variant	-	NC_000002.12:g.217818388C>A	gnomAD
TNS1	Q9HBL0	p.Ser1213Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818383T>A	NCI-TCGA
TNS1	Q9HBL0	p.His1214Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818379T>C	NCI-TCGA
TNS1	Q9HBL0	p.Met1217Thr	rs992073780	missense variant	-	NC_000002.12:g.217818370A>G	TOPMed
TNS1	Q9HBL0	p.Met1218Ile	rs763545171	missense variant	-	NC_000002.12:g.217818366C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly1219Ala	rs776119921	missense variant	-	NC_000002.12:g.217818364C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1221Thr	rs770030341	missense variant	-	NC_000002.12:g.217818359G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1221Leu	rs1299613903	missense variant	-	NC_000002.12:g.217818358G>A	gnomAD
TNS1	Q9HBL0	p.Pro1221Ser	rs770030341	missense variant	-	NC_000002.12:g.217818359G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1222Arg	rs759983608	missense variant	-	NC_000002.12:g.217818356C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1223Ser	rs376418427	missense variant	-	NC_000002.12:g.217818352G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1223Pro	rs1179684541	missense variant	-	NC_000002.12:g.217818353T>G	TOPMed
TNS1	Q9HBL0	p.Thr1223Ile	rs376418427	missense variant	-	NC_000002.12:g.217818352G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1224Ser	rs746453498	missense variant	-	NC_000002.12:g.217818350C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Phe1225Leu	rs1351690025	missense variant	-	NC_000002.12:g.217818347A>G	gnomAD
TNS1	Q9HBL0	p.Phe1225Cys	rs777264422	missense variant	-	NC_000002.12:g.217818346A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly1227Asp	rs1371371888	missense variant	-	NC_000002.12:g.217818340C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1228Gly	rs951408351	missense variant	-	NC_000002.12:g.217818338T>C	TOPMed
TNS1	Q9HBL0	p.Ser1228Cys	rs951408351	missense variant	-	NC_000002.12:g.217818338T>A	TOPMed
TNS1	Q9HBL0	p.Ser1228Ile	rs1409416413	missense variant	-	NC_000002.12:g.217818337C>A	TOPMed
TNS1	Q9HBL0	p.Thr1229Ala	rs771628959	missense variant	-	NC_000002.12:g.217818335T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1230Ala	rs754691748	missense variant	-	NC_000002.12:g.217818331A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1230Leu	rs149865301	missense variant	-	NC_000002.12:g.217818332C>G	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val1230Ile	rs149865301	missense variant	-	NC_000002.12:g.217818332C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1231Phe	rs1192292704	missense variant	-	NC_000002.12:g.217818328G>A	gnomAD
TNS1	Q9HBL0	p.Gln1234ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217818319_217818320insG	NCI-TCGA
TNS1	Q9HBL0	p.Gln1234Ter	rs1479288668	stop gained	-	NC_000002.12:g.217818320G>A	gnomAD
TNS1	Q9HBL0	p.Ser1236Arg	rs1198042000	missense variant	-	NC_000002.12:g.217818312A>C	gnomAD
TNS1	Q9HBL0	p.Ser1236Asn	rs753687770	missense variant	-	NC_000002.12:g.217818313C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1237Ser	rs1483202810	missense variant	-	NC_000002.12:g.217818311C>A	gnomAD
TNS1	Q9HBL0	p.Ala1238Thr	rs781212293	missense variant	-	NC_000002.12:g.217818308C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1238Val	rs757557810	missense variant	-	NC_000002.12:g.217818307G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1239Ser	rs751896413	missense variant	-	NC_000002.12:g.217818305T>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1240Ala	rs753110853	missense variant	-	NC_000002.12:g.217818302T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1240Pro	rs753110853	missense variant	-	NC_000002.12:g.217818302T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1241Ser	rs1281506886	missense variant	-	NC_000002.12:g.217818299G>A	gnomAD
TNS1	Q9HBL0	p.Pro1241Gln	rs759765327	missense variant	-	NC_000002.12:g.217818298G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1241Leu	rs759765327	missense variant	-	NC_000002.12:g.217818298G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1242Glu	rs1310107860	missense variant	-	NC_000002.12:g.217818295C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1243Thr	rs771356903	missense variant	-	NC_000002.12:g.217818292C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1245Arg	rs760308082	missense variant	-	NC_000002.12:g.217818285G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1248Trp	rs374664735	missense variant	-	NC_000002.12:g.217818278G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1248Gln	rs1440186075	missense variant	-	NC_000002.12:g.217818277C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.His1249Leu	rs1247539853	missense variant	-	NC_000002.12:g.217818274T>A	TOPMed
TNS1	Q9HBL0	p.His1249Asn	rs768650809	missense variant	-	NC_000002.12:g.217818275G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His1249Gln	rs748968221	missense variant	-	NC_000002.12:g.217818273G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.His1249Tyr	rs768650809	missense variant	-	NC_000002.12:g.217818275G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1250Leu	rs779890703	missense variant	-	NC_000002.12:g.217818271G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1251Glu	rs1184867216	missense variant	-	NC_000002.12:g.217818268G>T	TOPMed
TNS1	Q9HBL0	p.Ala1251Thr	rs756030763	missense variant	-	NC_000002.12:g.217818269C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1252Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818266C>T	NCI-TCGA
TNS1	Q9HBL0	p.Val1253Ile	rs573432829	missense variant	-	NC_000002.12:g.217818263C>T	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr1254Cys	rs146194928	missense variant	-	NC_000002.12:g.217818259T>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln1255Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818257G>T	NCI-TCGA
TNS1	Q9HBL0	p.Gln1255Leu	rs558458788	missense variant	-	NC_000002.12:g.217818256T>A	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Gly1258Asp	rs765597278	missense variant	-	NC_000002.12:g.217818247C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu1259Phe	rs755506192	missense variant	-	NC_000002.12:g.217818245G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1265Ile	rs199947491	missense variant	-	NC_000002.12:g.217818226G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1266Asn	rs766711676	missense variant	-	NC_000002.12:g.217818223G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1266Ile	rs766711676	missense variant	-	NC_000002.12:g.217818223G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1267Leu	rs557589384	missense variant	-	NC_000002.12:g.217818220G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1267Ser	rs772815271	missense variant	-	NC_000002.12:g.217818221G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1267Arg	rs557589384	missense variant	-	NC_000002.12:g.217818220G>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1267Thr	rs772815271	missense variant	-	NC_000002.12:g.217818221G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1269Cys	rs1404304100	missense variant	-	NC_000002.12:g.217818215T>A	gnomAD
TNS1	Q9HBL0	p.Pro1270Leu	rs985297701	missense variant	-	NC_000002.12:g.217818211G>A	TOPMed
TNS1	Q9HBL0	p.Ser1271Ile	rs1176354846	missense variant	-	NC_000002.12:g.217818208C>A	gnomAD
TNS1	Q9HBL0	p.Ser1271Asn	rs1176354846	missense variant	-	NC_000002.12:g.217818208C>T	gnomAD
TNS1	Q9HBL0	p.Leu1272Pro	rs555430131	missense variant	-	NC_000002.12:g.217818205A>G	gnomAD
TNS1	Q9HBL0	p.Gly1273Ser	rs1413618010	missense variant	-	NC_000002.12:g.217818203C>T	gnomAD
TNS1	Q9HBL0	p.Gly1273Asp	rs1156295196	missense variant	-	NC_000002.12:g.217818202C>T	gnomAD
TNS1	Q9HBL0	p.Arg1274Gln	rs749231305	missense variant	-	NC_000002.12:g.217818199C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1274Trp	rs140195511	missense variant	-	NC_000002.12:g.217818200G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His1275Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818195G>T	NCI-TCGA
TNS1	Q9HBL0	p.His1275Leu	rs775616526	missense variant	-	NC_000002.12:g.217818196T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1276Ala	rs1242238984	missense variant	-	NC_000002.12:g.217818194G>C	gnomAD
TNS1	Q9HBL0	p.Gly1277Ala	rs745687104	missense variant	-	NC_000002.12:g.217818190C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1278Thr	rs371485196	missense variant	-	NC_000002.12:g.217818188C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His1279Gln	rs1212024995	missense variant	-	NC_000002.12:g.217818183G>C	TOPMed
TNS1	Q9HBL0	p.His1279Tyr	rs758700137	missense variant	-	NC_000002.12:g.217818185G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln1280Glu	rs369260171	missense variant	-	NC_000002.12:g.217818182G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1286Asp	rs1230183452	missense variant	-	NC_000002.12:g.217818163C>T	gnomAD
TNS1	Q9HBL0	p.Gly1286Ser	rs148106119	missense variant	-	NC_000002.12:g.217818164C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu1287Phe	rs993491639	missense variant	-	NC_000002.12:g.217818161G>A	TOPMed
TNS1	Q9HBL0	p.Asn1290Asp	rs1381044028	missense variant	-	NC_000002.12:g.217818152T>C	gnomAD
TNS1	Q9HBL0	p.Asn1290Lys	rs974485724	missense variant	-	NC_000002.12:g.217818150A>T	TOPMed
TNS1	Q9HBL0	p.Ile1292Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818145A>T	NCI-TCGA
TNS1	Q9HBL0	p.Ile1292Thr	rs766905890	missense variant	-	NC_000002.12:g.217818145A>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ile1292Val	rs567383518	missense variant	-	NC_000002.12:g.217818146T>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1293Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818142G>A	NCI-TCGA
TNS1	Q9HBL0	p.Ser1294Arg	rs750798352	missense variant	-	NC_000002.12:g.217818138G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1295Ser	rs1415623747	missense variant	-	NC_000002.12:g.217818137G>A	TOPMed
TNS1	Q9HBL0	p.Pro1295His	rs1452465027	missense variant	-	NC_000002.12:g.217818136G>T	gnomAD
TNS1	Q9HBL0	p.Gly1296Glu	rs767087568	missense variant	-	NC_000002.12:g.217818133C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1297Arg	rs1473709265	missense variant	-	NC_000002.12:g.217818129G>T	TOPMed
TNS1	Q9HBL0	p.Ser1299Thr	rs761518907	missense variant	-	NC_000002.12:g.217818124C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1299Asn	COSM4091353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818124C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg1302His	rs533811485	missense variant	-	NC_000002.12:g.217818115C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1302Cys	rs555032914	missense variant	-	NC_000002.12:g.217818116G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu1304Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818110G>T	NCI-TCGA
TNS1	Q9HBL0	p.Gly1305Arg	rs202059695	missense variant	-	NC_000002.12:g.217818107C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1305Glu	rs141992593	missense variant	-	NC_000002.12:g.217818106C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1305Arg	rs202059695	missense variant	-	NC_000002.12:g.217818107C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1306Arg	rs954549876	missense variant	-	NC_000002.12:g.217818104C>T	TOPMed
TNS1	Q9HBL0	p.Gly1306Val	rs745593139	missense variant	-	NC_000002.12:g.217818103C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly1308Arg	rs1485592693	missense variant	-	NC_000002.12:g.217818098C>T	gnomAD
TNS1	Q9HBL0	p.Val1310Leu	rs1339238009	missense variant	-	NC_000002.12:g.217818092C>G	TOPMed
TNS1	Q9HBL0	p.Pro1312Leu	rs1266041725	missense variant	-	NC_000002.12:g.217818085G>A	gnomAD
TNS1	Q9HBL0	p.Pro1312Ser	COSM720021	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818086G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gly1313AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217818082C>-	NCI-TCGA
TNS1	Q9HBL0	p.Gly1313Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818082C>G	NCI-TCGA
TNS1	Q9HBL0	p.Gly1313Ser	rs755972447	missense variant	-	NC_000002.12:g.217818083C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1313Asp	rs1314849677	missense variant	-	NC_000002.12:g.217818082C>T	gnomAD
TNS1	Q9HBL0	p.Pro1315Leu	rs998657845	missense variant	-	NC_000002.12:g.217818076G>A	TOPMed
TNS1	Q9HBL0	p.Pro1315His	rs998657845	missense variant	-	NC_000002.12:g.217818076G>T	TOPMed
TNS1	Q9HBL0	p.Pro1315Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217818077G>A	NCI-TCGA
TNS1	Q9HBL0	p.Cys1316Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.217818072G>T	NCI-TCGA
TNS1	Q9HBL0	p.Cys1316Tyr	rs748380403	missense variant	-	NC_000002.12:g.217818073C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu1317Ser	rs768744958	missense variant	-	NC_000002.12:g.217818070A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu1317Val	rs779047819	missense variant	-	NC_000002.12:g.217818071A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp1318Asn	rs780483243	missense variant	-	NC_000002.12:g.217818068C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1319Gln	rs375150652	missense variant	-	NC_000002.12:g.217818064C>T	ESP,ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1319Trp	rs756615716	missense variant	-	NC_000002.12:g.217818065G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His1320Arg	rs200704877	missense variant	-	NC_000002.12:g.217818061T>C	1000Genomes,gnomAD
TNS1	Q9HBL0	p.His1320Asp	rs192246394	missense variant	-	NC_000002.12:g.217818062G>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.His1320Tyr	rs192246394	missense variant	-	NC_000002.12:g.217818062G>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1322Thr	rs1192389733	missense variant	-	NC_000002.12:g.217818056C>T	gnomAD
TNS1	Q9HBL0	p.Tyr1323Cys	rs114082928	missense variant	-	NC_000002.12:g.217818052T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1325Ser	rs1489932110	missense variant	-	NC_000002.12:g.217818047C>T	gnomAD
TNS1	Q9HBL0	p.Gly1325Cys	rs1489932110	missense variant	-	NC_000002.12:g.217818047C>A	gnomAD
TNS1	Q9HBL0	p.Tyr1326His	rs1291354252	missense variant	-	NC_000002.12:g.217818044A>G	gnomAD
TNS1	Q9HBL0	p.Tyr1326Cys	rs540245275	missense variant	-	NC_000002.12:g.217818043T>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1327Phe	rs764908390	missense variant	-	NC_000002.12:g.217818040G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1327Thr	rs752261994	missense variant	-	NC_000002.12:g.217818041A>T	ExAC
TNS1	Q9HBL0	p.Ser1327Cys	COSM1405397	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818040G>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Thr1328Ile	rs140830200	missense variant	-	NC_000002.12:g.217818037G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1328Ala	rs759534034	missense variant	-	NC_000002.12:g.217818038T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1329Leu	rs140104262	missense variant	-	NC_000002.12:g.217818034G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1329Arg	rs140104262	missense variant	-	NC_000002.12:g.217818034G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp1331Gly	rs564618959	missense variant	-	NC_000002.12:g.217818028T>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Asp1331Asn	rs768776020	missense variant	-	NC_000002.12:g.217818029C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1332Gln	rs747091639	missense variant	-	NC_000002.12:g.217818025C>T	ExAC
TNS1	Q9HBL0	p.Arg1332Trp	rs565596219	missense variant	-	NC_000002.12:g.217818026G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1334His	rs781588999	missense variant	-	NC_000002.12:g.217818019G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1335Ile	rs757600215	missense variant	-	NC_000002.12:g.217818016G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu1336Pro	rs757983950	missense variant	-	NC_000002.12:g.217818013A>G	ExAC,TOPMed
TNS1	Q9HBL0	p.Ser1337Tyr	rs752456483	missense variant	-	NC_000002.12:g.217818010G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1338Gln	rs201601812	missense variant	-	NC_000002.12:g.217818007C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1338Gly	rs147499675	missense variant	-	NC_000002.12:g.217818008G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1338Trp	rs147499675	missense variant	-	NC_000002.12:g.217818008G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln1339Glu	rs1355764570	missense variant	-	NC_000002.12:g.217818005G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1340Asn	rs1183164576	missense variant	-	NC_000002.12:g.217818001C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1342Asp	rs1254409410	missense variant	-	NC_000002.12:g.217817995G>T	TOPMed
TNS1	Q9HBL0	p.Ser1343Phe	rs753791826	missense variant	-	NC_000002.12:g.217817992G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr1345Cys	rs1248925317	missense variant	-	NC_000002.12:g.217817986T>C	gnomAD
TNS1	Q9HBL0	p.Ala1347Pro	rs766253684	missense variant	-	NC_000002.12:g.217817981C>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1348His	rs1258315298	missense variant	-	NC_000002.12:g.217817977G>T	gnomAD
TNS1	Q9HBL0	p.Pro1348Ser	rs760464081	missense variant	-	NC_000002.12:g.217817978G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1350Met	rs772889773	missense variant	-	NC_000002.12:g.217817971G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1351Leu	rs368604589	missense variant	-	NC_000002.12:g.217817968G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1351Thr	rs771967175	missense variant	-	NC_000002.12:g.217817969G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1351Arg	rs368604589	missense variant	-	NC_000002.12:g.217817968G>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1351Ser	rs771967175	missense variant	-	NC_000002.12:g.217817969G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1352Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217817966A>G	NCI-TCGA
TNS1	Q9HBL0	p.Pro1354Ser	rs775735259	missense variant	-	NC_000002.12:g.217817960G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1355Ala	rs769830145	missense variant	-	NC_000002.12:g.217817956A>G	ExAC
TNS1	Q9HBL0	p.Ser1356Pro	rs557552474	missense variant	-	NC_000002.12:g.217817954A>G	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1356Phe	rs542462540	missense variant	-	NC_000002.12:g.217817953G>A	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1357Ser	rs1469166694	missense variant	-	NC_000002.12:g.217817951G>A	gnomAD
TNS1	Q9HBL0	p.Ala1358Val	rs1453489558	missense variant	-	NC_000002.12:g.217817947G>A	TOPMed
TNS1	Q9HBL0	p.Tyr1359Cys	rs777988243	missense variant	-	NC_000002.12:g.217817944T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1361Ser	rs1171353105	missense variant	-	NC_000002.12:g.217817939G>A	TOPMed
TNS1	Q9HBL0	p.Gly1362Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217817935C>T	NCI-TCGA
TNS1	Q9HBL0	p.Leu1363Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217817932A>G	NCI-TCGA
TNS1	Q9HBL0	p.Leu1363Val	rs199649844	missense variant	-	NC_000002.12:g.217817933G>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1365Arg	COSM4091351	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217817927T>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Pro1366Ser	rs747772246	missense variant	-	NC_000002.12:g.217817924G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1370Gln	rs766275252	missense variant	-	NC_000002.12:g.217817911G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1370Leu	rs766275252	missense variant	-	NC_000002.12:g.217817911G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp1373Gly	rs1202405737	missense variant	-	NC_000002.12:g.217817902T>C	gnomAD
TNS1	Q9HBL0	p.Ser1374Phe	rs1445139574	missense variant	-	NC_000002.12:g.217817899G>A	TOPMed
TNS1	Q9HBL0	p.Ala1375Val	rs761632833	missense variant	-	NC_000002.12:g.217817896G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1375Thr	rs143531869	missense variant	-	NC_000002.12:g.217817897C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1376Thr	COSM1016258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217817894C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg1378Gln	rs765466438	missense variant	-	NC_000002.12:g.217817887C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1378Trp	rs144402716	missense variant	-	NC_000002.12:g.217817888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1380Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217817881C>A	NCI-TCGA
TNS1	Q9HBL0	p.Ser1381Arg	COSM1482760	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217817877G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Thr1383Ile	rs139365440	missense variant	-	NC_000002.12:g.217817872G>A	ESP,ExAC
TNS1	Q9HBL0	p.Pro1384Gln	rs771102432	missense variant	-	NC_000002.12:g.217817869G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1387Ser	rs747452943	missense variant	-	NC_000002.12:g.217817861G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu1388Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217817856C>A	NCI-TCGA
TNS1	Q9HBL0	p.Glu1388Val	rs772526212	missense variant	-	NC_000002.12:g.217817857T>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu1388Lys	rs377123667	missense variant	-	NC_000002.12:g.217817858C>T	ESP,ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1390Gln	rs748549540	missense variant	-	NC_000002.12:g.217817851C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1391Ser	rs372383802	missense variant	-	NC_000002.12:g.217817847C>G	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met1392Thr	rs1444603542	missense variant	-	NC_000002.12:g.217817845A>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Met1392Lys	rs1444603542	missense variant	-	NC_000002.12:g.217817845A>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1393Leu	rs754684344	missense variant	-	NC_000002.12:g.217817842G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1394Ala	rs1433364341	missense variant	-	NC_000002.12:g.217817839A>G	TOPMed
TNS1	Q9HBL0	p.Asp1396Asn	rs779414826	missense variant	-	NC_000002.12:g.217817834C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1397Trp	rs368264531	missense variant	-	NC_000002.12:g.217817831G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1397Gln	rs750292210	missense variant	-	NC_000002.12:g.217817830C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1398Ser	rs1245017180	missense variant	-	NC_000002.12:g.217817828C>A	gnomAD
TNS1	Q9HBL0	p.Ala1398Glu	rs756995677	missense variant	-	NC_000002.12:g.217817827G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu1401Phe	rs751369200	missense variant	-	NC_000002.12:g.217817819G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1402Ala	rs765374803	missense variant	-	NC_000002.12:g.217817816G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1402Ser	rs765374803	missense variant	-	NC_000002.12:g.217817816G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn1403Ser	rs1317712411	missense variant	-	NC_000002.12:g.217817812T>C	gnomAD
TNS1	Q9HBL0	p.Ile1407Asn	rs759748278	missense variant	-	NC_000002.12:g.217817800A>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ile1407Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217817799G>C	NCI-TCGA
TNS1	Q9HBL0	p.Asn1408Ser	rs1367647958	missense variant	-	NC_000002.12:g.217817797T>C	gnomAD
TNS1	Q9HBL0	p.Asn1408Lys	rs1161858564	missense variant	-	NC_000002.12:g.217817796A>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys1410ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217817793C>-	NCI-TCGA
TNS1	Q9HBL0	p.Lys1410Asn	rs766339399	missense variant	-	NC_000002.12:g.217817790C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Lys1410Thr	rs776963230	missense variant	-	NC_000002.12:g.217817791T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1411Ala	rs773547543	missense variant	-	NC_000002.12:g.217817788A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1411Met	rs539307477	missense variant	-	NC_000002.12:g.217817789C>T	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1412Pro	rs143109214	missense variant	-	NC_000002.12:g.217817786A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1412Ala	rs143109214	missense variant	-	NC_000002.12:g.217817786A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1412Thr	rs143109214	missense variant	-	NC_000002.12:g.217817786A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1413Leu	rs374846656	missense variant	-	NC_000002.12:g.217817782G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1416Thr	rs61746065	missense variant	-	NC_000002.12:g.217817774C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met1419Thr	rs751563581	missense variant	-	NC_000002.12:g.217817764A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Met1419Ile	rs777523404	missense variant	-	NC_000002.12:g.217817763C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1423Gly	rs1301537873	missense variant	-	NC_000002.12:g.217817753T>C	gnomAD
TNS1	Q9HBL0	p.Ser1423Asn	rs1404488644	missense variant	-	NC_000002.12:g.217817752C>T	gnomAD
TNS1	Q9HBL0	p.Gly1424Arg	rs1371490574	missense variant	-	NC_000002.12:g.217817750C>T	gnomAD
TNS1	Q9HBL0	p.Gly1425Asp	rs919328445	missense variant	-	NC_000002.12:g.217817746C>T	TOPMed
TNS1	Q9HBL0	p.Ser1426Thr	rs760616604	missense variant	-	NC_000002.12:g.217817743C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1426Asn	rs760616604	missense variant	-	NC_000002.12:g.217817743C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1427Ile	rs1408762545	missense variant	-	NC_000002.12:g.217817740G>A	gnomAD
TNS1	Q9HBL0	p.Val1428Ile	rs151105778	missense variant	-	NC_000002.12:g.217817738C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1433Ser	rs762398925	missense variant	-	NC_000002.12:g.217817722G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu1434Pro	rs1198325727	missense variant	-	NC_000002.12:g.217817719A>G	gnomAD
TNS1	Q9HBL0	p.Leu1434AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.217817719_217817720AG>-	NCI-TCGA
TNS1	Q9HBL0	p.Pro1435His	rs775043696	missense variant	-	NC_000002.12:g.217817716G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp1436Ala	rs774953060	missense variant	-	NC_000002.12:g.217817713T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp1436Asn	rs763402455	missense variant	-	NC_000002.12:g.217817714C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Phe1437Cys	rs1325764905	missense variant	-	NC_000002.12:g.217817710A>C	gnomAD
TNS1	Q9HBL0	p.Phe1437Leu	rs769499196	missense variant	-	NC_000002.12:g.217817711A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1438Phe	rs745309678	missense variant	-	NC_000002.12:g.217817707G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr1440His	COSM4091350	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217817702A>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Met1442Val	rs780674954	missense variant	-	NC_000002.12:g.217817696T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Met1442Leu	rs780674954	missense variant	-	NC_000002.12:g.217817696T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp1444Glu	rs765584934	missense variant	-	NC_000002.12:g.217814997G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn1445Lys	rs759173931	missense variant	-	NC_000002.12:g.217814994G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1446Arg	rs1453879871	missense variant	-	NC_000002.12:g.217814991G>C	gnomAD
TNS1	Q9HBL0	p.Pro1447Arg	rs144860480	missense variant	-	NC_000002.12:g.217814989G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1447Ser	rs777573962	missense variant	-	NC_000002.12:g.217814990G>A	gnomAD
TNS1	Q9HBL0	p.Pro1447Leu	rs144860480	missense variant	-	NC_000002.12:g.217814989G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1447Ala	rs777573962	missense variant	-	NC_000002.12:g.217814990G>C	gnomAD
TNS1	Q9HBL0	p.Thr1449Met	rs374445594	missense variant	-	NC_000002.12:g.217814983G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1449Ser	rs1418144683	missense variant	-	NC_000002.12:g.217814984T>A	gnomAD
TNS1	Q9HBL0	p.Thr1449Lys	rs374445594	missense variant	-	NC_000002.12:g.217814983G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1450Trp	rs772055099	missense variant	-	NC_000002.12:g.217814981G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1450Gln	rs748105499	missense variant	-	NC_000002.12:g.217814980C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1453Met	rs1209218903	missense variant	-	NC_000002.12:g.217814972C>T	gnomAD
TNS1	Q9HBL0	p.Lys1454Asn	rs754781771	missense variant	-	NC_000002.12:g.217814967C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Phe1455Val	COSM1129330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217814966A>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ser1460Ala	rs201496749	missense variant	-	NC_000002.12:g.217814951A>C	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr1462Phe	rs751700217	missense variant	-	NC_000002.12:g.217814944T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Tyr1462Cys	rs751700217	missense variant	-	NC_000002.12:g.217814944T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Glu1467Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217814928C>A	NCI-TCGA
TNS1	Q9HBL0	p.Glu1467Asp	rs1380979229	missense variant	-	NC_000002.12:g.217814928C>G	gnomAD
TNS1	Q9HBL0	p.Ser1469Pro	rs758939352	missense variant	-	NC_000002.12:g.217814924A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1469Phe	rs753200738	missense variant	-	NC_000002.12:g.217814923G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1470Ser	rs1363539578	missense variant	-	NC_000002.12:g.217814919C>G	gnomAD
TNS1	Q9HBL0	p.Glu1471Asp	rs1286597772	missense variant	-	NC_000002.12:g.217814916C>A	gnomAD
TNS1	Q9HBL0	p.Gln1472Pro	rs1452661164	missense variant	-	NC_000002.12:g.217814914T>G	gnomAD
TNS1	Q9HBL0	p.Gln1472Lys	COSM720022	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217814915G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Ala1473Thr	rs1365774903	missense variant	-	NC_000002.12:g.217814912C>T	gnomAD
TNS1	Q9HBL0	p.Ile1474Val	rs760310159	missense variant	-	NC_000002.12:g.217813814T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1475Val	rs147272941	missense variant	-	NC_000002.12:g.217813810G>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1475Thr	rs369175639	missense variant	-	NC_000002.12:g.217813811C>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1475Glu	rs147272941	missense variant	-	NC_000002.12:g.217813810G>T	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1475Pro	rs369175639	missense variant	-	NC_000002.12:g.217813811C>G	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu1476Phe	rs1344447637	missense variant	-	NC_000002.12:g.217813808G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1482Leu	rs762766252	missense variant	-	NC_000002.12:g.217813789G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1483Trp	rs775419910	missense variant	-	NC_000002.12:g.217813787C>A	ExAC
TNS1	Q9HBL0	p.Phe1485Ser	rs1297540064	missense variant	-	NC_000002.12:g.217813780A>G	gnomAD
TNS1	Q9HBL0	p.Ile1486Asn	rs1411335259	missense variant	-	NC_000002.12:g.217813777A>T	gnomAD
TNS1	Q9HBL0	p.Arg1488Cys	rs769767402	missense variant	-	NC_000002.12:g.217813772G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp1489Asn	rs777896296	missense variant	-	NC_000002.12:g.217813769C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1494Gln	rs16858264	missense variant	-	NC_000002.12:g.217813753C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1494Pro	rs16858264	missense variant	-	NC_000002.12:g.217813753C>G	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1496Glu	rs370042202	missense variant	-	NC_000002.12:g.217813747G>T	ESP,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1496Val	rs370042202	missense variant	-	NC_000002.12:g.217813747G>A	ESP,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1496Thr	COSM4091349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217813748C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gly1498Arg	rs1436052337	missense variant	-	NC_000002.12:g.217813742C>T	TOPMed
TNS1	Q9HBL0	p.Leu1499Met	rs756515412	missense variant	-	NC_000002.12:g.217813739G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1500Thr	rs724159925	missense variant	-	NC_000002.12:g.217813736C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1500Ser	rs724159925	missense variant	-	NC_000002.12:g.217813736C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Met1501Thr	rs1016835748	missense variant	-	NC_000002.12:g.217813732A>G	TOPMed
TNS1	Q9HBL0	p.Met1501Leu	rs767095119	missense variant	-	NC_000002.12:g.217813733T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Met1501Ile	rs1322157273	missense variant	-	NC_000002.12:g.217813731C>T	gnomAD
TNS1	Q9HBL0	p.Lys1502Arg	rs1279788211	missense variant	-	NC_000002.12:g.217813729T>C	gnomAD
TNS1	Q9HBL0	p.Ser1504Pro	rs372210857	missense variant	-	NC_000002.12:g.217813724A>G	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1505Leu	rs763763057	missense variant	-	NC_000002.12:g.217813720G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1506Ser	COSM1016256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217813718G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Pro1507Leu	rs1269778580	missense variant	-	NC_000002.12:g.217813714G>A	TOPMed
TNS1	Q9HBL0	p.Thr1509Ala	rs762969076	missense variant	-	NC_000002.12:g.217813709T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1509Ile	rs1329480251	missense variant	-	NC_000002.12:g.217813708G>A	TOPMed
TNS1	Q9HBL0	p.Met1511Ile	rs1240829704	missense variant	-	NC_000002.12:g.217813701C>T	TOPMed
TNS1	Q9HBL0	p.Met1511Lys	rs775670202	missense variant	-	NC_000002.12:g.217813702A>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Met1511Thr	rs775670202	missense variant	-	NC_000002.12:g.217813702A>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln1512Pro	rs202014996	missense variant	-	NC_000002.12:g.217813699T>G	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln1512Arg	rs202014996	missense variant	-	NC_000002.12:g.217813699T>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln1512His	COSM1016255	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217813698C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gln1513Arg	rs1380677122	missense variant	-	NC_000002.12:g.217813696T>C	gnomAD
TNS1	Q9HBL0	p.Asn1514Ile	rs773425843	missense variant	-	NC_000002.12:g.217813693T>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn1514Ser	rs773425843	missense variant	-	NC_000002.12:g.217813693T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.His1521Arg	rs751282040	missense variant	-	NC_000002.12:g.217813295T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.His1526Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217813281G>C	NCI-TCGA
TNS1	Q9HBL0	p.Phe1527Ile	rs763673262	missense variant	-	NC_000002.12:g.217813278A>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ile1529Leu	rs1244670248	missense variant	-	NC_000002.12:g.217813272T>A	TOPMed
TNS1	Q9HBL0	p.Thr1531Ile	rs1262046447	missense variant	-	NC_000002.12:g.217813265G>A	gnomAD
TNS1	Q9HBL0	p.Gly1532Ser	rs1222694412	missense variant	-	NC_000002.12:g.217813263C>T	gnomAD
TNS1	Q9HBL0	p.Gly1532Asp	rs560667520	missense variant	-	NC_000002.12:g.217813262C>T	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1533Arg	rs1358944494	missense variant	-	NC_000002.12:g.217813259G>C	TOPMed
TNS1	Q9HBL0	p.Pro1533Thr	rs1289309042	missense variant	-	NC_000002.12:g.217813260G>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1533Ala	rs1289309042	missense variant	-	NC_000002.12:g.217813260G>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1533Ser	rs1289309042	missense variant	-	NC_000002.12:g.217813260G>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1534Gly	rs752642025	missense variant	-	NC_000002.12:g.217813257T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1536Ile	rs1271816622	missense variant	-	NC_000002.12:g.217813251C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys1537Asn	rs1433011321	missense variant	-	NC_000002.12:g.217813246C>A	gnomAD
TNS1	Q9HBL0	p.Leu1538Phe	COSM1405396	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217813245G>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Lys1539Glu	rs1411667363	missense variant	-	NC_000002.12:g.217813242T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1540Asp	rs765280235	missense variant	-	NC_000002.12:g.217813238C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Gly1540Ser	rs1297827530	missense variant	-	NC_000002.12:g.217813239C>T	gnomAD
TNS1	Q9HBL0	p.Pro1542Ser	rs1162028845	missense variant	-	NC_000002.12:g.217813233G>A	gnomAD
TNS1	Q9HBL0	p.Asn1543Ser	rs375433855	missense variant	-	NC_000002.12:g.217813229T>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn1543Asp	rs1463699370	missense variant	-	NC_000002.12:g.217813230T>C	TOPMed
TNS1	Q9HBL0	p.Glu1544Lys	rs1420883015	missense variant	-	NC_000002.12:g.217813227C>T	gnomAD
TNS1	Q9HBL0	p.Pro1545Ser	rs1474148443	missense variant	-	NC_000002.12:g.217813224G>A	gnomAD
TNS1	Q9HBL0	p.Asn1546Asp	rs1248701399	missense variant	-	NC_000002.12:g.217813221T>C	TOPMed
TNS1	Q9HBL0	p.Gly1548Arg	rs1199780352	missense variant	-	NC_000002.12:g.217813215C>T	gnomAD
TNS1	Q9HBL0	p.Ser1549Ala	rs758120076	missense variant	-	NC_000002.12:g.217812443A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ser1551Thr	rs547668519	missense variant	-	NC_000002.12:g.217812437A>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Tyr1555Cys	rs1170303094	missense variant	-	NC_000002.12:g.217812424T>C	TOPMed
TNS1	Q9HBL0	p.Ile1559Thr	rs750220902	missense variant	-	NC_000002.12:g.217812412A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Ile1560Met	rs148198079	missense variant	-	NC_000002.12:g.217812408G>C	1000Genomes
TNS1	Q9HBL0	p.Ala1563Val	rs1209749687	missense variant	-	NC_000002.12:g.217812400G>A	gnomAD
TNS1	Q9HBL0	p.Ala1563Ser	rs1254327892	missense variant	-	NC_000002.12:g.217812401C>A	gnomAD
TNS1	Q9HBL0	p.Pro1565Leu	rs957870794	missense variant	-	NC_000002.12:g.217812394G>A	TOPMed
TNS1	Q9HBL0	p.Leu1568Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217812385A>C	NCI-TCGA
TNS1	Q9HBL0	p.Ile1570Leu	rs1342136962	missense variant	-	NC_000002.12:g.217812380T>G	TOPMed
TNS1	Q9HBL0	p.Arg1573Ter	rs765199493	stop gained	-	NC_000002.12:g.217812371G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1573Leu	rs776954136	missense variant	-	NC_000002.12:g.217812370C>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1573Gln	rs776954136	missense variant	-	NC_000002.12:g.217812370C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1575Ala	rs1400400385	missense variant	-	NC_000002.12:g.217810317G>C	TOPMed
TNS1	Q9HBL0	p.Pro1575His	COSM268203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217810316G>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Thr1576Arg	rs200737049	missense variant	-	NC_000002.12:g.217810313G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1576Ile	rs200737049	missense variant	-	NC_000002.12:g.217810313G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp1577His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217810311C>G	NCI-TCGA
TNS1	Q9HBL0	p.Asp1577Gly	rs1320416336	missense variant	-	NC_000002.12:g.217810310T>C	gnomAD
TNS1	Q9HBL0	p.Glu1578Ala	rs1214666698	missense variant	-	NC_000002.12:g.217810307T>G	gnomAD
TNS1	Q9HBL0	p.Ser1579Leu	rs753948729	missense variant	-	NC_000002.12:g.217810304G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys1580Arg	rs1399006308	missense variant	-	NC_000002.12:g.217810301T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp1581His	rs1050037392	missense variant	-	NC_000002.12:g.217810299C>G	TOPMed
TNS1	Q9HBL0	p.Asp1581Gly	rs761243672	missense variant	-	NC_000002.12:g.217810298T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1583Thr	rs200040655	missense variant	-	NC_000002.12:g.217810293A>T	1000Genomes
TNS1	Q9HBL0	p.Gly1584Arg	rs371630425	missense variant	-	NC_000002.12:g.217810290C>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1584Ser	rs371630425	missense variant	-	NC_000002.12:g.217810290C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1584Cys	COSM6090122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217810290C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Pro1585Arg	rs773821717	missense variant	-	NC_000002.12:g.217810286G>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1586Asp	rs748956121	missense variant	-	NC_000002.12:g.217810283G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1586Ser	rs768354702	missense variant	-	NC_000002.12:g.217810284C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn1587Asp	rs1488075249	missense variant	-	NC_000002.12:g.217810281T>C	gnomAD
TNS1	Q9HBL0	p.Asn1587Lys	rs1270105816	missense variant	-	NC_000002.12:g.217810279G>C	gnomAD
TNS1	Q9HBL0	p.Asn1587Ser	rs200709775	missense variant	-	NC_000002.12:g.217810280T>C	1000Genomes
TNS1	Q9HBL0	p.Thr1589Ile	rs1220268015	missense variant	-	NC_000002.12:g.217810274G>A	gnomAD
TNS1	Q9HBL0	p.Asp1591Val	rs913909896	missense variant	-	NC_000002.12:g.217810268T>A	TOPMed
TNS1	Q9HBL0	p.Leu1593Arg	rs775048638	missense variant	-	NC_000002.12:g.217810262A>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Gln1595Glu	rs1251102367	missense variant	-	NC_000002.12:g.217810257G>C	TOPMed
TNS1	Q9HBL0	p.Ala1597Gly	rs1469744089	missense variant	-	NC_000002.12:g.217810250G>C	TOPMed
TNS1	Q9HBL0	p.Ala1598Val	rs762642338	missense variant	-	NC_000002.12:g.217809991G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Cys1599Phe	rs182528477	missense variant	-	NC_000002.12:g.217809988C>A	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn1600Asp	rs769251500	missense variant	-	NC_000002.12:g.217809986T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn1600Ser	rs1307417692	missense variant	-	NC_000002.12:g.217809985T>C	gnomAD
TNS1	Q9HBL0	p.Val1604Ile	rs918949	missense variant	-	NC_000002.12:g.217809974C>T	UniProt,dbSNP
TNS1	Q9HBL0	p.Val1604Ile	VAR_047071	missense variant	-	NC_000002.12:g.217809974C>T	UniProt
TNS1	Q9HBL0	p.Val1604Ile	rs918949	missense variant	-	NC_000002.12:g.217809974C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val1604Ala	rs758169617	missense variant	-	NC_000002.12:g.217809973A>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1604Leu	rs918949	missense variant	-	NC_000002.12:g.217809974C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val1607Ala	COSM4091348	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217809964A>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Met1609Leu	rs756207610	missense variant	-	NC_000002.12:g.217809959T>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Glu1610Gln	COSM4846575	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217809956C>G	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Lys1620Asn	rs1334007478	missense variant	-	NC_000002.12:g.217809924T>A	TOPMed
TNS1	Q9HBL0	p.Ala1621Thr	rs140596738	missense variant	-	NC_000002.12:g.217809923C>T	ESP,gnomAD
TNS1	Q9HBL0	p.Thr1622Ile	rs750538575	missense variant	-	NC_000002.12:g.217809919G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1625Lys	rs767768746	missense variant	-	NC_000002.12:g.217809910G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1625Met	rs767768746	missense variant	-	NC_000002.12:g.217809910G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu1626Met	rs764485737	missense variant	-	NC_000002.12:g.217809908A>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Leu1626Phe	rs763256623	missense variant	-	NC_000002.12:g.217809906C>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1627Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217809905C>A	NCI-TCGA
TNS1	Q9HBL0	p.Ala1628Thr	rs936663410	missense variant	-	NC_000002.12:g.217809902C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1628Ser	rs936663410	missense variant	-	NC_000002.12:g.217809902C>A	TOPMed,gnomAD
TNS1	Q9HBL0	p.Asp1629Asn	rs763059354	missense variant	-	NC_000002.12:g.217809899C>T	gnomAD
TNS1	Q9HBL0	p.Asp1629Gly	rs201270225	missense variant	-	NC_000002.12:g.217809898T>C	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1630His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217809895G>T	NCI-TCGA
TNS1	Q9HBL0	p.Pro1630Thr	rs200402809	missense variant	-	NC_000002.12:g.217809896G>T	gnomAD
TNS1	Q9HBL0	p.Pro1630Ser	rs200402809	missense variant	-	NC_000002.12:g.217809896G>A	gnomAD
TNS1	Q9HBL0	p.Thr1631Met	rs758979599	missense variant	-	NC_000002.12:g.217809892G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1631Ala	rs764881368	missense variant	-	NC_000002.12:g.217809893T>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1632Leu	rs1336220602	missense variant	-	NC_000002.12:g.217809889G>A	gnomAD
TNS1	Q9HBL0	p.Pro1632Ala	rs1381460691	missense variant	-	NC_000002.12:g.217809890G>C	TOPMed
TNS1	Q9HBL0	p.Thr1635Ala	rs773056635	missense variant	-	NC_000002.12:g.217809881T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Val1637Ala	rs747912694	missense variant	-	NC_000002.12:g.217809874A>G	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val1637Ile	rs201730716	missense variant	-	NC_000002.12:g.217809875C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Phe1639Leu	COSM3798628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217809867G>C	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gln1644Pro	rs548553618	missense variant	-	NC_000002.12:g.217809853T>G	1000Genomes,ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1647Ile	rs1361170595	missense variant	-	NC_000002.12:g.217809844G>A	TOPMed
TNS1	Q9HBL0	p.Gln1652His	rs1441290367	missense variant	-	NC_000002.12:g.217809828C>G	gnomAD
TNS1	Q9HBL0	p.Arg1659His	rs779217268	missense variant	-	NC_000002.12:g.217808657C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1659Cys	rs753252697	missense variant	-	NC_000002.12:g.217808658G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp1670Glu	rs1307321406	missense variant	-	NC_000002.12:g.217808623G>T	TOPMed
TNS1	Q9HBL0	p.Asp1670Gly	rs1304789801	missense variant	-	NC_000002.12:g.217808624T>C	TOPMed,gnomAD
TNS1	Q9HBL0	p.Trp1678Cys	rs1266285760	missense variant	-	NC_000002.12:g.217808104C>G	TOPMed
TNS1	Q9HBL0	p.Trp1678Arg	rs1221362497	missense variant	-	NC_000002.12:g.217808106A>T	TOPMed
TNS1	Q9HBL0	p.Met1679Val	rs1490711080	missense variant	-	NC_000002.12:g.217808103T>C	TOPMed
TNS1	Q9HBL0	p.Thr1681Ala	rs372933223	missense variant	-	NC_000002.12:g.217808097T>C	ESP,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1681Pro	rs372933223	missense variant	-	NC_000002.12:g.217808097T>G	ESP,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1683Asp	rs1166606831	missense variant	-	NC_000002.12:g.217808090C>T	TOPMed
TNS1	Q9HBL0	p.Gly1683Ser	rs750134452	missense variant	-	NC_000002.12:g.217808091C>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1684Asp	rs766909547	missense variant	-	NC_000002.12:g.217808087C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1685Thr	rs200309108	missense variant	-	NC_000002.12:g.217808085C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Pro1686Leu	rs1314130457	missense variant	-	NC_000002.12:g.217808081G>A	gnomAD
TNS1	Q9HBL0	p.Pro1686Ser	rs201883538	missense variant	-	NC_000002.12:g.217808082G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Lys1688Asn	rs144669301	missense variant	-	NC_000002.12:g.217804603C>A	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Lys1688Asn	rs144669301	missense variant	-	NC_000002.12:g.217804603C>G	ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Phe1690Leu	rs371703783	missense variant	-	NC_000002.12:g.217804597G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1691Ser	rs1187507777	missense variant	-	NC_000002.12:g.217804596C>T	TOPMed
TNS1	Q9HBL0	p.Val1693Met	rs762087132	missense variant	-	NC_000002.12:g.217804590C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1694Thr	COSM1405391	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217804587C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Arg1695Gln	rs768769003	missense variant	-	NC_000002.12:g.217804583C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Arg1695Gly	rs774398480	missense variant	-	NC_000002.12:g.217804584G>C	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Arg1695Trp	rs774398480	missense variant	-	NC_000002.12:g.217804584G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gln1697Lys	rs61740053	missense variant	-	NC_000002.12:g.217804578G>T	TOPMed
TNS1	Q9HBL0	p.Ser1699Asn	rs776099853	missense variant	-	NC_000002.12:g.217804571C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Thr1700Ala	rs1488136169	missense variant	-	NC_000002.12:g.217804569T>C	gnomAD
TNS1	Q9HBL0	p.Thr1701Met	rs61740054	missense variant	-	NC_000002.12:g.217804565G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Thr1701Ala	rs770008237	missense variant	-	NC_000002.12:g.217804566T>C	ExAC,gnomAD
TNS1	Q9HBL0	p.Ala1704Asp	rs746718057	missense variant	-	NC_000002.12:g.217804556G>T	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1704Thr	rs1218899817	missense variant	-	NC_000002.12:g.217804557C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Leu1707Val	rs1275856911	missense variant	-	NC_000002.12:g.217804548G>C	gnomAD
TNS1	Q9HBL0	p.Phe1708Leu	rs566491497	missense variant	-	NC_000002.12:g.217804543A>C	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ala1709Thr	rs757957438	missense variant	-	NC_000002.12:g.217804542C>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Asp1712Glu	rs1295290016	missense variant	-	NC_000002.12:g.217804531G>T	gnomAD
TNS1	Q9HBL0	p.Asp1712Ala	rs752526470	missense variant	-	NC_000002.12:g.217804532T>G	ExAC
TNS1	Q9HBL0	p.Pro1713Leu	rs778921539	missense variant	-	NC_000002.12:g.217804529G>A	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1713His	rs778921539	missense variant	-	NC_000002.12:g.217804529G>T	ExAC,gnomAD
TNS1	Q9HBL0	p.Asn1714Thr	rs754661069	missense variant	-	NC_000002.12:g.217804526T>G	ExAC,gnomAD
TNS1	Q9HBL0	p.Pro1716Arg	rs1466164129	missense variant	-	NC_000002.12:g.217804520G>C	gnomAD
TNS1	Q9HBL0	p.Pro1716Leu	rs1466164129	missense variant	-	NC_000002.12:g.217804520G>A	gnomAD
TNS1	Q9HBL0	p.Ser1718Phe	rs761996719	missense variant	-	NC_000002.12:g.217804514G>A	ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ile1720Val	rs1268483399	missense variant	-	NC_000002.12:g.217804509T>C	gnomAD
TNS1	Q9HBL0	p.Val1721Ile	rs1487771568	missense variant	-	NC_000002.12:g.217804506C>T	TOPMed,gnomAD
TNS1	Q9HBL0	p.Val1721Leu	rs1487771568	missense variant	-	NC_000002.12:g.217804506C>G	TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn1722His	rs1339824464	missense variant	-	NC_000002.12:g.217804503T>G	TOPMed
TNS1	Q9HBL0	p.Asn1722Ser	rs61741262	missense variant	-	NC_000002.12:g.217804502T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Asn1722Thr	rs61741262	missense variant	-	NC_000002.12:g.217804502T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Val1724Ile	rs535983438	missense variant	-	NC_000002.12:g.217804497C>T	1000Genomes,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Ser1725Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.217804493G>A	NCI-TCGA
TNS1	Q9HBL0	p.Ser1725Cys	rs1486620747	missense variant	-	NC_000002.12:g.217804493G>C	TOPMed
TNS1	Q9HBL0	p.Met1728Ile	rs1254844189	missense variant	-	NC_000002.12:g.217804483C>A	TOPMed
TNS1	Q9HBL0	p.Met1728Val	rs1331525980	missense variant	-	NC_000002.12:g.217804485T>C	gnomAD
TNS1	Q9HBL0	p.Gly1732Ser	rs143428830	missense variant	-	NC_000002.12:g.217804473C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TNS1	Q9HBL0	p.Gly1732Asp	COSM1230038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217804472C>T	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gly1732Val	COSM442298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217804472C>A	NCI-TCGA Cosmic
TNS1	Q9HBL0	p.Gln1733Arg	rs1367052236	missense variant	-	NC_000002.12:g.217804469T>C	gnomAD
TNS1	Q9HBL0	p.Lys1734Asn	rs1331888541	missense variant	-	NC_000002.12:g.217804465C>G	gnomAD
BARX1	Q9HBU1	p.Pro4Ser	rs895896348	missense variant	-	NC_000009.12:g.93955137G>A	TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly5Val	rs1304665974	missense variant	-	NC_000009.12:g.93955133C>A	gnomAD
BARX1	Q9HBU1	p.Glu6Lys	rs1483686725	missense variant	-	NC_000009.12:g.93955131C>T	TOPMed
BARX1	Q9HBU1	p.Pro7Leu	rs774263956	missense variant	-	NC_000009.12:g.93955127G>A	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Pro7Ser	rs1190383513	missense variant	-	NC_000009.12:g.93955128G>A	gnomAD
BARX1	Q9HBU1	p.Ala10Glu	rs1262291713	missense variant	-	NC_000009.12:g.93955118G>T	gnomAD
BARX1	Q9HBU1	p.Gly13Cys	rs1356935133	missense variant	-	NC_000009.12:g.93955110C>A	gnomAD
BARX1	Q9HBU1	p.Gly13Ser	rs1356935133	missense variant	-	NC_000009.12:g.93955110C>T	gnomAD
BARX1	Q9HBU1	p.Pro14Thr	rs770854053	missense variant	-	NC_000009.12:g.93955107G>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Pro15Arg	rs1246522511	missense variant	-	NC_000009.12:g.93955103G>C	gnomAD
BARX1	Q9HBU1	p.Gly17Asp	rs1338964571	missense variant	-	NC_000009.12:g.93955097C>T	gnomAD
BARX1	Q9HBU1	p.Cys18Ser	rs1412540917	missense variant	-	NC_000009.12:g.93955094C>G	TOPMed
BARX1	Q9HBU1	p.Ala19Pro	rs934796935	missense variant	-	NC_000009.12:g.93955092C>G	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala19Thr	rs934796935	missense variant	-	NC_000009.12:g.93955092C>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Asp20Ala	rs1448262683	missense variant	-	NC_000009.12:g.93955088T>G	TOPMed
BARX1	Q9HBU1	p.Arg22Gln	rs924748384	missense variant	-	NC_000009.12:g.93955082C>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Arg22Trp	rs1314290662	missense variant	-	NC_000009.12:g.93955083G>A	TOPMed
BARX1	Q9HBU1	p.His24Arg	rs1288504701	missense variant	-	NC_000009.12:g.93955076T>C	TOPMed
BARX1	Q9HBU1	p.Arg25His	rs1218028254	missense variant	-	NC_000009.12:g.93955073C>T	TOPMed
BARX1	Q9HBU1	p.Arg25Cys	rs1353455167	missense variant	-	NC_000009.12:g.93955074G>A	TOPMed
BARX1	Q9HBU1	p.Arg27Leu	rs1327136481	missense variant	-	NC_000009.12:g.93955067C>A	TOPMed,gnomAD
BARX1	Q9HBU1	p.Met30Leu	rs1303027019	missense variant	-	NC_000009.12:g.93955059T>G	gnomAD
BARX1	Q9HBU1	p.Ile31Val	rs1253384506	missense variant	-	NC_000009.12:g.93955056T>C	TOPMed,gnomAD
BARX1	Q9HBU1	p.Thr36Met	rs1201657492	missense variant	-	NC_000009.12:g.93955040G>A	TOPMed,gnomAD
BARX1	Q9HBU1	p.Pro39Leu	rs1182986365	missense variant	-	NC_000009.12:g.93955031G>A	TOPMed
BARX1	Q9HBU1	p.Gly40Glu	rs1418324655	missense variant	-	NC_000009.12:g.93955028C>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly40Arg	rs781194809	missense variant	-	NC_000009.12:g.93955029C>G	ExAC,gnomAD
BARX1	Q9HBU1	p.Lys42Arg	rs1476079637	missense variant	-	NC_000009.12:g.93955022T>C	TOPMed,gnomAD
BARX1	Q9HBU1	p.Lys42Asn	rs1373164993	missense variant	-	NC_000009.12:g.93955021C>A	gnomAD
BARX1	Q9HBU1	p.Lys42Met	rs1476079637	missense variant	-	NC_000009.12:g.93955022T>A	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala44Thr	rs560200241	missense variant	-	NC_000009.12:g.93955017C>T	1000Genomes,gnomAD
BARX1	Q9HBU1	p.Ala44Val	rs1489837185	missense variant	-	NC_000009.12:g.93955016G>A	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala44Gly	rs1489837185	missense variant	-	NC_000009.12:g.93955016G>C	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala45Thr	rs1271031550	missense variant	-	NC_000009.12:g.93955014C>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala45Glu	rs1175286609	missense variant	-	NC_000009.12:g.93955013G>T	TOPMed
BARX1	Q9HBU1	p.Ala47Thr	rs1437054497	missense variant	-	NC_000009.12:g.93955008C>T	gnomAD
BARX1	Q9HBU1	p.Ala48Thr	rs191789925	missense variant	-	NC_000009.12:g.93955005C>T	1000Genomes,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala49Thr	rs1216574487	missense variant	-	NC_000009.12:g.93955002C>T	gnomAD
BARX1	Q9HBU1	p.Ala49Val	rs1340093500	missense variant	-	NC_000009.12:g.93955001G>A	gnomAD
BARX1	Q9HBU1	p.Ala51Val	rs1347925732	missense variant	-	NC_000009.12:g.93954995G>A	gnomAD
BARX1	Q9HBU1	p.Ala51Thr	rs576837358	missense variant	-	NC_000009.12:g.93954996C>T	1000Genomes,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala52Val	rs1441897044	missense variant	-	NC_000009.12:g.93954992G>A	gnomAD
BARX1	Q9HBU1	p.Gly54Ala	rs1353143378	missense variant	-	NC_000009.12:g.93954986C>G	gnomAD
BARX1	Q9HBU1	p.Leu56Gln	rs758702906	missense variant	-	NC_000009.12:g.93954980A>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Lys58Arg	rs1400661440	missense variant	-	NC_000009.12:g.93954974T>C	TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly60Ser	rs1273016991	missense variant	-	NC_000009.12:g.93954969C>T	TOPMed
BARX1	Q9HBU1	p.Val61Gly	rs1479197274	missense variant	-	NC_000009.12:g.93954965A>C	TOPMed,gnomAD
BARX1	Q9HBU1	p.Val61Glu	rs1479197274	missense variant	-	NC_000009.12:g.93954965A>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Gln62Arg	rs964462092	missense variant	-	NC_000009.12:g.93954962T>C	TOPMed
BARX1	Q9HBU1	p.Ala63Gly	rs1200103921	missense variant	-	NC_000009.12:g.93954959G>C	gnomAD
BARX1	Q9HBU1	p.Ala66Glu	rs941962960	missense variant	-	NC_000009.12:g.93954950G>T	gnomAD
BARX1	Q9HBU1	p.Ala66Gly	rs941962960	missense variant	-	NC_000009.12:g.93954950G>C	gnomAD
BARX1	Q9HBU1	p.Ala67Val	rs1449899122	missense variant	-	NC_000009.12:g.93954947G>A	TOPMed
BARX1	Q9HBU1	p.Ser72Arg	rs1198280925	missense variant	-	NC_000009.12:g.93954931G>T	TOPMed
BARX1	Q9HBU1	p.Ala75Asp	rs773164189	missense variant	-	NC_000009.12:g.93953187G>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Ala75Val	rs773164189	missense variant	-	NC_000009.12:g.93953187G>A	ExAC,gnomAD
BARX1	Q9HBU1	p.Val76Met	rs1313862806	missense variant	-	NC_000009.12:g.93953185C>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Lys78Arg	rs1302918191	missense variant	-	NC_000009.12:g.93953178T>C	gnomAD
BARX1	Q9HBU1	p.Glu80Lys	rs1489234016	missense variant	-	NC_000009.12:g.93953173C>T	gnomAD
BARX1	Q9HBU1	p.Glu80Ter	rs1489234016	stop gained	-	NC_000009.12:g.93953173C>A	gnomAD
BARX1	Q9HBU1	p.Phe85Leu	rs1161255040	missense variant	-	NC_000009.12:g.93953156G>C	gnomAD
BARX1	Q9HBU1	p.Lys86Asn	rs747038748	missense variant	-	NC_000009.12:g.93953153C>A	ExAC,gnomAD
BARX1	Q9HBU1	p.Lys86Glu	rs1171309735	missense variant	-	NC_000009.12:g.93953155T>C	TOPMed
BARX1	Q9HBU1	p.Pro88Gln	rs780245526	missense variant	-	NC_000009.12:g.93953148G>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Leu89Val	rs541371621	missense variant	-	NC_000009.12:g.93953146G>C	TOPMed
BARX1	Q9HBU1	p.Leu92Pro	rs746115723	missense variant	-	NC_000009.12:g.93953136A>G	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly93Cys	rs1185977992	missense variant	-	NC_000009.12:g.93953134C>A	gnomAD
BARX1	Q9HBU1	p.Gly93Asp	rs1484955097	missense variant	-	NC_000009.12:g.93953133C>T	gnomAD
BARX1	Q9HBU1	p.Gly93Arg	rs1185977992	missense variant	-	NC_000009.12:g.93953134C>G	gnomAD
BARX1	Q9HBU1	p.Cys94Arg	rs549526966	missense variant	-	NC_000009.12:g.93953131A>G	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Ser95Leu	rs532945486	missense variant	-	NC_000009.12:g.93953127G>A	1000Genomes,ExAC,gnomAD
BARX1	Q9HBU1	p.Ser95Pro	rs1442164135	missense variant	-	NC_000009.12:g.93953128A>G	TOPMed
BARX1	Q9HBU1	p.Leu97Pro	rs1379510866	missense variant	-	NC_000009.12:g.93953121A>G	TOPMed
BARX1	Q9HBU1	p.Ser98Arg	rs1361139386	missense variant	-	NC_000009.12:g.93953117G>C	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ser98Ile	rs778400548	missense variant	-	NC_000009.12:g.93953118C>A	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Ser98Asn	rs778400548	missense variant	-	NC_000009.12:g.93953118C>T	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Ser99Phe	rs1313049531	missense variant	-	NC_000009.12:g.93953115G>A	gnomAD
BARX1	Q9HBU1	p.Ala100Thr	rs1213446917	missense variant	-	NC_000009.12:g.93953113C>T	gnomAD
BARX1	Q9HBU1	p.Ala100Gly	rs756740714	missense variant	-	NC_000009.12:g.93953112G>C	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala104Ser	rs1245867728	missense variant	-	NC_000009.12:g.93953101C>A	TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly105Arg	rs767061973	missense variant	-	NC_000009.12:g.93953098C>T	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Pro106Ser	rs544075964	missense variant	-	NC_000009.12:g.93953095G>A	1000Genomes,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Pro106Ala	rs544075964	missense variant	-	NC_000009.12:g.93953095G>C	1000Genomes,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly107Arg	rs531602020	missense variant	-	NC_000009.12:g.93953092C>T	1000Genomes,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly107Arg	rs531602020	missense variant	-	NC_000009.12:g.93953092C>G	1000Genomes,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly107Trp	rs531602020	missense variant	-	NC_000009.12:g.93953092C>A	1000Genomes,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly110Ser	rs1421759690	missense variant	-	NC_000009.12:g.93953083C>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala111Thr	rs201946673	missense variant	-	NC_000009.12:g.93953080C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala111Ser	rs201946673	missense variant	-	NC_000009.12:g.93953080C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala112Val	rs1267457561	missense variant	-	NC_000009.12:g.93953076G>A	gnomAD
BARX1	Q9HBU1	p.Ala112Thr	rs1044700919	missense variant	-	NC_000009.12:g.93953077C>T	TOPMed
BARX1	Q9HBU1	p.Ala114Thr	rs1403090266	missense variant	-	NC_000009.12:g.93953071C>T	TOPMed
BARX1	Q9HBU1	p.His116Pro	rs761812989	missense variant	-	NC_000009.12:g.93953064T>G	ExAC,gnomAD
BARX1	Q9HBU1	p.Leu117Met	rs772214631	missense variant	-	NC_000009.12:g.93953062G>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Pro118Leu	rs1218772762	missense variant	-	NC_000009.12:g.93953058G>A	gnomAD
BARX1	Q9HBU1	p.Glu120Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.93953053C>T	NCI-TCGA
BARX1	Q9HBU1	p.Leu121Phe	rs771325755	missense variant	-	NC_000009.12:g.93953048C>G	ExAC,gnomAD
BARX1	Q9HBU1	p.Gln122His	rs1391213209	missense variant	-	NC_000009.12:g.93953045C>G	gnomAD
BARX1	Q9HBU1	p.Leu123Phe	rs373384950	missense variant	-	NC_000009.12:g.93953044G>A	ESP,TOPMed,gnomAD
BARX1	Q9HBU1	p.Arg124His	rs1460666524	missense variant	-	NC_000009.12:g.93953040C>T	gnomAD
BARX1	Q9HBU1	p.Ala129Ser	rs369928804	missense variant	-	NC_000009.12:g.93953026C>A	ESP,ExAC,gnomAD
BARX1	Q9HBU1	p.Ala130Glu	rs1427777963	missense variant	-	NC_000009.12:g.93953022G>T	gnomAD
BARX1	Q9HBU1	p.Gly131Asp	rs868608877	missense variant	-	NC_000009.12:g.93953019C>T	gnomAD
BARX1	Q9HBU1	p.Gly131Val	rs868608877	missense variant	-	NC_000009.12:g.93953019C>A	gnomAD
BARX1	Q9HBU1	p.Pro132Arg	rs778351778	missense variant	-	NC_000009.12:g.93953016G>C	ExAC,gnomAD
BARX1	Q9HBU1	p.Gly136Ser	rs748707341	missense variant	-	NC_000009.12:g.93953005C>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Thr137Ser	rs780522907	missense variant	-	NC_000009.12:g.93953001G>C	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Thr137Ile	rs780522907	missense variant	-	NC_000009.12:g.93953001G>A	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala139Val	rs1198689451	missense variant	-	NC_000009.12:g.93952995G>A	gnomAD
BARX1	Q9HBU1	p.Lys140Arg	rs754547962	missense variant	-	NC_000009.12:g.93952992T>C	ExAC,gnomAD
BARX1	Q9HBU1	p.Gly142Glu	rs1261122752	missense variant	-	NC_000009.12:g.93952986C>T	gnomAD
BARX1	Q9HBU1	p.Arg143His	rs1331406485	missense variant	-	NC_000009.12:g.93952983C>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Arg143Cys	COSM1463739	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952984G>A	NCI-TCGA Cosmic
BARX1	Q9HBU1	p.Ser145Asn	rs866954519	missense variant	-	NC_000009.12:g.93952977C>T	gnomAD
BARX1	Q9HBU1	p.Ser145Ile	rs866954519	missense variant	-	NC_000009.12:g.93952977C>A	gnomAD
BARX1	Q9HBU1	p.Arg146His	rs1389519411	missense variant	-	NC_000009.12:g.93952974C>T	gnomAD
BARX1	Q9HBU1	p.Arg146Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.93952975G>A	NCI-TCGA
BARX1	Q9HBU1	p.Glu151Lys	rs1332350470	missense variant	-	NC_000009.12:g.93952960C>T	gnomAD
BARX1	Q9HBU1	p.Gln153Ter	rs1179141312	stop gained	-	NC_000009.12:g.93952954G>A	gnomAD
BARX1	Q9HBU1	p.Gln153His	rs1466998124	missense variant	-	NC_000009.12:g.93952952C>G	gnomAD
BARX1	Q9HBU1	p.Glu162Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.93952925C>A	NCI-TCGA
BARX1	Q9HBU1	p.Glu162Ala	rs765995311	missense variant	-	NC_000009.12:g.93952926T>G	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Glu162Lys	COSM4844481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952927C>T	NCI-TCGA Cosmic
BARX1	Q9HBU1	p.Gln164Lys	rs1239576202	missense variant	-	NC_000009.12:g.93952921G>T	gnomAD
BARX1	Q9HBU1	p.Gln164His	rs142710643	missense variant	-	NC_000009.12:g.93952919C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Thr169Met	rs750149824	missense variant	-	NC_000009.12:g.93952905G>A	ExAC,gnomAD
BARX1	Q9HBU1	p.Thr169Lys	rs750149824	missense variant	-	NC_000009.12:g.93952905G>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Pro170Leu	rs531210852	missense variant	-	NC_000009.12:g.93952902G>A	gnomAD
BARX1	Q9HBU1	p.Ile173Thr	rs778532537	missense variant	-	NC_000009.12:g.93952811A>G	ExAC,gnomAD
BARX1	Q9HBU1	p.Leu175Ile	rs1231334745	missense variant	-	NC_000009.12:g.93952806G>T	TOPMed
BARX1	Q9HBU1	p.Ser178Phe	COSM3659722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952796G>A	NCI-TCGA Cosmic
BARX1	Q9HBU1	p.Leu181Met	rs556916619	missense variant	-	NC_000009.12:g.93952788G>T	1000Genomes,ExAC,gnomAD
BARX1	Q9HBU1	p.Leu184Val	rs201922522	missense variant	-	NC_000009.12:g.93952779A>C	1000Genomes,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Gln185Ter	rs1263813289	stop gained	-	NC_000009.12:g.93952776G>A	gnomAD
BARX1	Q9HBU1	p.Arg193Trp	rs751625001	missense variant	-	NC_000009.12:g.93952752G>A	ExAC,gnomAD
BARX1	Q9HBU1	p.Arg193Gln	COSM2732646	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952751C>T	NCI-TCGA Cosmic
BARX1	Q9HBU1	p.Met195Leu	rs1198131040	missense variant	-	NC_000009.12:g.93952746T>A	gnomAD
BARX1	Q9HBU1	p.Trp197Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.93952740A>T	NCI-TCGA
BARX1	Q9HBU1	p.Ile200Val	rs1382974696	missense variant	-	NC_000009.12:g.93952731T>C	gnomAD
BARX1	Q9HBU1	p.Val201Met	rs745365151	missense variant	-	NC_000009.12:g.93952328C>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Gln203Arg	rs557180708	missense variant	-	NC_000009.12:g.93952321T>C	gnomAD
BARX1	Q9HBU1	p.Gly204Asp	rs770548524	missense variant	-	NC_000009.12:g.93952318C>T	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Gly205Asp	rs1175534327	missense variant	-	NC_000009.12:g.93952315C>T	gnomAD
BARX1	Q9HBU1	p.Gly205Ser	rs1400402143	missense variant	-	NC_000009.12:g.93952316C>T	gnomAD
BARX1	Q9HBU1	p.Gly206Ser	rs748908921	missense variant	-	NC_000009.12:g.93952313C>T	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Glu208Gly	rs957172729	missense variant	-	NC_000009.12:g.93952306T>C	TOPMed,gnomAD
BARX1	Q9HBU1	p.Glu208Ala	rs957172729	missense variant	-	NC_000009.12:g.93952306T>G	TOPMed,gnomAD
BARX1	Q9HBU1	p.Pro210Leu	rs1180771426	missense variant	-	NC_000009.12:g.93952300G>A	gnomAD
BARX1	Q9HBU1	p.Thr211Pro	rs1239629658	missense variant	-	NC_000009.12:g.93952298T>G	TOPMed
BARX1	Q9HBU1	p.Thr211Ile	rs149189558	missense variant	-	NC_000009.12:g.93952297G>A	ESP,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Arg216Trp	rs1279996964	missense variant	-	NC_000009.12:g.93952283G>A	gnomAD
BARX1	Q9HBU1	p.Arg216Gln	rs1235663514	missense variant	-	NC_000009.12:g.93952282C>T	TOPMed
BARX1	Q9HBU1	p.Lys218Arg	rs948370232	missense variant	-	NC_000009.12:g.93952276T>C	TOPMed,gnomAD
BARX1	Q9HBU1	p.Lys219Asn	COSM1111309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.93952272C>A	NCI-TCGA Cosmic
BARX1	Q9HBU1	p.Asn220Ile	rs755024473	missense variant	-	NC_000009.12:g.93952270T>A	ExAC,gnomAD
BARX1	Q9HBU1	p.Ser221Ter	COSM1315034	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.93952267G>C	NCI-TCGA Cosmic
BARX1	Q9HBU1	p.Ile222Val	rs145379597	missense variant	-	NC_000009.12:g.93952265T>C	ESP,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Pro223Ser	rs1157606968	missense variant	-	NC_000009.12:g.93952262G>A	TOPMed
BARX1	Q9HBU1	p.Thr224Arg	rs757450124	missense variant	-	NC_000009.12:g.93952258G>C	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Thr224Met	rs757450124	missense variant	-	NC_000009.12:g.93952258G>A	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Thr224Ala	rs992336948	missense variant	-	NC_000009.12:g.93952259T>C	gnomAD
BARX1	Q9HBU1	p.Glu226Gln	rs961583468	missense variant	-	NC_000009.12:g.93952253C>G	TOPMed
BARX1	Q9HBU1	p.Gln227Lys	rs1324622909	missense variant	-	NC_000009.12:g.93952250G>T	gnomAD
BARX1	Q9HBU1	p.Leu228Phe	rs201122153	missense variant	-	NC_000009.12:g.93952247G>A	ESP,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Leu228Val	rs201122153	missense variant	-	NC_000009.12:g.93952247G>C	ESP,ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Glu230Lys	rs560651229	missense variant	-	NC_000009.12:g.93952241C>T	1000Genomes,ExAC,gnomAD
BARX1	Q9HBU1	p.Arg233Cys	rs972503300	missense variant	-	NC_000009.12:g.93952232G>A	TOPMed
BARX1	Q9HBU1	p.Arg233Ser	rs972503300	missense variant	-	NC_000009.12:g.93952232G>T	TOPMed
BARX1	Q9HBU1	p.Arg233Leu	rs1378266524	missense variant	-	NC_000009.12:g.93952231C>A	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala234Ser	rs1446509008	missense variant	-	NC_000009.12:g.93952229C>A	TOPMed
BARX1	Q9HBU1	p.Asp236Asn	rs1181808628	missense variant	-	NC_000009.12:g.93952223C>T	gnomAD
BARX1	Q9HBU1	p.Glu238Lys	rs773850927	missense variant	-	NC_000009.12:g.93952217C>T	ExAC,TOPMed,gnomAD
BARX1	Q9HBU1	p.Lys239Ter	rs1215715737	stop gained	-	NC_000009.12:g.93952214T>A	gnomAD
BARX1	Q9HBU1	p.Pro240Thr	rs770372550	missense variant	-	NC_000009.12:g.93952211G>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Pro240Leu	rs1288596242	missense variant	-	NC_000009.12:g.93952210G>A	gnomAD
BARX1	Q9HBU1	p.Ala241Thr	rs758410858	missense variant	-	NC_000009.12:g.93952208C>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala241Val	rs1313975275	missense variant	-	NC_000009.12:g.93952207G>A	TOPMed,gnomAD
BARX1	Q9HBU1	p.Ala241Glu	rs1313975275	missense variant	-	NC_000009.12:g.93952207G>T	TOPMed,gnomAD
BARX1	Q9HBU1	p.Val243Leu	rs1226080454	missense variant	-	NC_000009.12:g.93952202C>A	gnomAD
BARX1	Q9HBU1	p.Pro244Leu	rs1239139496	missense variant	-	NC_000009.12:g.93952198G>A	TOPMed
BARX1	Q9HBU1	p.Glu246Ter	rs1429948249	stop gained	-	NC_000009.12:g.93952193C>A	gnomAD
BARX1	Q9HBU1	p.Pro247Arg	rs1423783980	missense variant	-	NC_000009.12:g.93952189G>C	gnomAD
BARX1	Q9HBU1	p.Ser248Asn	rs772711999	missense variant	-	NC_000009.12:g.93952186C>T	ExAC,gnomAD
BARX1	Q9HBU1	p.Ser248Gly	rs1358624725	missense variant	-	NC_000009.12:g.93952187T>C	gnomAD
BARX1	Q9HBU1	p.Asp249Tyr	rs1456235522	missense variant	-	NC_000009.12:g.93952184C>A	TOPMed
BARX1	Q9HBU1	p.Arg250Trp	rs1171882411	missense variant	-	NC_000009.12:g.93952181T>A	gnomAD
BARX1	Q9HBU1	p.Arg250Ser	rs1365144935	missense variant	-	NC_000009.12:g.93952179C>A	gnomAD
BARX1	Q9HBU1	p.Arg252Leu	rs374624014	missense variant	-	NC_000009.12:g.93952174C>A	ESP,TOPMed,gnomAD
BARX1	Q9HBU1	p.Arg252His	rs374624014	missense variant	-	NC_000009.12:g.93952174C>T	ESP,TOPMed,gnomAD
BARX1	Q9HBU1	p.Glu253Lys	rs199527359	missense variant	-	NC_000009.12:g.93952172C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu3Pro	rs1174447440	missense variant	-	NC_000013.11:g.24913018A>G	gnomAD
CENPJ	Q9HC77	p.Pro5Ser	rs780968763	missense variant	-	NC_000013.11:g.24913013G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr6Ala	rs757775034	missense variant	-	NC_000013.11:g.24913010T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser7Ter	RCV000001890	frameshift	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24913009del	ClinVar
CENPJ	Q9HC77	p.Glu9Gln	rs1429642805	missense variant	-	NC_000013.11:g.24913001C>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu9Ter	rs1429642805	stop gained	-	NC_000013.11:g.24913001C>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu10Ter	rs1014664164	stop gained	-	NC_000013.11:g.24912997A>T	TOPMed
CENPJ	Q9HC77	p.Asn11His	rs777566498	missense variant	-	NC_000013.11:g.24912995T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser12Arg	rs569704428	missense variant	-	NC_000013.11:g.24912990A>C	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Gly13Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24912988C>A	NCI-TCGA
CENPJ	Q9HC77	p.Gln14Arg	rs1211113891	missense variant	-	NC_000013.11:g.24912985T>C	gnomAD
CENPJ	Q9HC77	p.Gln14Ter	rs201822162	stop gained	-	NC_000013.11:g.24912986G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln14Ter	RCV000331915	nonsense	-	NC_000013.11:g.24912986G>A	ClinVar
CENPJ	Q9HC77	p.Phe16Cys	rs1253732176	missense variant	-	NC_000013.11:g.24912979A>C	gnomAD
CENPJ	Q9HC77	p.Thr18Ile	rs1308012096	missense variant	-	NC_000013.11:g.24912973G>A	gnomAD
CENPJ	Q9HC77	p.Trp20Cys	COSM6138889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24912966C>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Trp20Ter	rs1555299107	stop gained	-	NC_000013.11:g.24912967C>T	-
CENPJ	Q9HC77	p.Trp20Ter	RCV000678242	nonsense	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24912967C>T	ClinVar
CENPJ	Q9HC77	p.Met21Leu	rs35498994	missense variant	-	NC_000013.11:g.24912965T>A	1000Genomes,ESP,TOPMed,gnomAD
CENPJ	Q9HC77	p.Met21Val	RCV000020856	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24912965T>C	ClinVar
CENPJ	Q9HC77	p.Met21Val	RCV000358738	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24912965T>C	ClinVar
CENPJ	Q9HC77	p.Met21Val	RCV000081958	missense variant	-	NC_000013.11:g.24912965T>C	ClinVar
CENPJ	Q9HC77	p.Met21Val	RCV000263946	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24912965T>C	ClinVar
CENPJ	Q9HC77	p.Met21Val	rs35498994	missense variant	-	NC_000013.11:g.24912965T>C	1000Genomes,ESP,TOPMed,gnomAD
CENPJ	Q9HC77	p.Met21Lys	rs1277444368	missense variant	-	NC_000013.11:g.24912964A>T	gnomAD
CENPJ	Q9HC77	p.Met21Leu	RCV000401419	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24912965T>A	ClinVar
CENPJ	Q9HC77	p.Met21Leu	RCV000309037	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24912965T>A	ClinVar
CENPJ	Q9HC77	p.Thr22Ser	rs750463874	missense variant	-	NC_000013.11:g.24912961G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr22Ile	rs750463874	missense variant	-	NC_000013.11:g.24912961G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn23Ser	rs116981543	missense variant	-	NC_000013.11:g.24912958T>C	1000Genomes,ESP,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn23Ser	RCV000145585	missense variant	-	NC_000013.11:g.24912958T>C	ClinVar
CENPJ	Q9HC77	p.Pro24Thr	rs767818257	missense variant	-	NC_000013.11:g.24912956G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg26Trp	rs774661411	missense variant	-	NC_000013.11:g.24912950G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg26Gln	rs769170833	missense variant	-	NC_000013.11:g.24912949C>T	NCI-TCGA
CENPJ	Q9HC77	p.Arg26Leu	COSM5987939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24912949C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg26Gln	rs769170833	missense variant	-	NC_000013.11:g.24912949C>T	ExAC
CENPJ	Q9HC77	p.Arg26Gly	rs774661411	missense variant	-	NC_000013.11:g.24912950G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Val29Ile	rs1395668471	missense variant	-	NC_000013.11:g.24912941C>T	gnomAD
CENPJ	Q9HC77	p.Ile30Val	rs763356174	missense variant	-	NC_000013.11:g.24912938T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu31Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24912934A>G	NCI-TCGA
CENPJ	Q9HC77	p.Leu31Val	rs776201341	missense variant	-	NC_000013.11:g.24912935A>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg33Cys	rs770200554	missense variant	-	NC_000013.11:g.24912929G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg33His	rs745427182	missense variant	-	NC_000013.11:g.24912928C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg33His	rs745427182	missense variant	-	NC_000013.11:g.24912928C>T	NCI-TCGA,NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ile37Val	rs1169130918	missense variant	-	NC_000013.11:g.24912917T>C	gnomAD
CENPJ	Q9HC77	p.Lys42Glu	rs368703465	missense variant	-	NC_000013.11:g.24912902T>C	ESP,ExAC,gnomAD
CENPJ	Q9HC77	p.Lys44Ter	RCV000272323	frameshift	-	NC_000013.11:g.24912897_24912898CT[1]	ClinVar
CENPJ	Q9HC77	p.Lys44Thr	rs367791758	missense variant	-	NC_000013.11:g.24912895T>G	gnomAD
CENPJ	Q9HC77	p.Arg45Gln	rs377249179	missense variant	-	NC_000013.11:g.24912892C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg45Ter	RCV000171216	nonsense	-	NC_000013.11:g.24912893G>A	ClinVar
CENPJ	Q9HC77	p.Arg45Gln	rs377249179	missense variant	-	NC_000013.11:g.24912892C>T	NCI-TCGA,NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg45Ter	rs786205481	stop gained	-	NC_000013.11:g.24912893G>A	gnomAD
CENPJ	Q9HC77	p.Val48Leu	rs1000908447	missense variant	-	NC_000013.11:g.24912884C>G	TOPMed
CENPJ	Q9HC77	p.Asp49His	rs758203242	missense variant	-	NC_000013.11:g.24912881C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser51Phe	rs752474112	missense variant	-	NC_000013.11:g.24912874G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr52Ile	rs959481555	missense variant	-	NC_000013.11:g.24912871G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser53Arg	rs1338954257	missense variant	-	NC_000013.11:g.24912867G>C	gnomAD
CENPJ	Q9HC77	p.Phe54Leu	rs1189305614	missense variant	-	NC_000013.11:g.24912864A>T	TOPMed
CENPJ	Q9HC77	p.Pro55Ala	rs17081389	missense variant	-	NC_000013.11:g.24912863G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro55Ala	RCV000145558	missense variant	-	NC_000013.11:g.24912863G>C	ClinVar
CENPJ	Q9HC77	p.Gly58Cys	rs750562616	missense variant	-	NC_000013.11:g.24912854C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly58Val	rs767512377	missense variant	-	NC_000013.11:g.24912853C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr59Ala	RCV000300812	missense variant	-	NC_000013.11:g.24912851T>C	ClinVar
CENPJ	Q9HC77	p.Thr59Ala	rs138732534	missense variant	-	NC_000013.11:g.24912851T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.His60Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24912848G>A	NCI-TCGA
CENPJ	Q9HC77	p.His60Arg	rs764403244	missense variant	-	NC_000013.11:g.24912847T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp63His	rs7336216	missense variant	-	NC_000013.11:g.24912839C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp63His	RCV000020850	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24912839C>G	ClinVar
CENPJ	Q9HC77	p.Asp63Glu	rs1366378997	missense variant	-	NC_000013.11:g.24912837A>C	gnomAD
CENPJ	Q9HC77	p.Asp63His	RCV000711279	missense variant	-	NC_000013.11:g.24912839C>G	ClinVar
CENPJ	Q9HC77	p.Asp63His	RCV000145560	missense variant	-	NC_000013.11:g.24912839C>G	ClinVar
CENPJ	Q9HC77	p.Ser64Thr	rs1463704615	missense variant	-	NC_000013.11:g.24912835C>G	TOPMed
CENPJ	Q9HC77	p.Phe67Val	rs770383240	missense variant	-	NC_000013.11:g.24912827A>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Ile68Met	rs375760447	missense variant	-	NC_000013.11:g.24912822T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile68Met	RCV000514860	missense variant	-	NC_000013.11:g.24912822T>C	ClinVar
CENPJ	Q9HC77	p.Glu71Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24912815C>A	NCI-TCGA
CENPJ	Q9HC77	p.Asp72Glu	rs34395671	missense variant	-	NC_000013.11:g.24912810A>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp72Glu	RCV000145565	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24912810A>C	ClinVar
CENPJ	Q9HC77	p.Leu74Val	rs140887456	missense variant	-	NC_000013.11:g.24912806G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu74Pro	rs563391686	missense variant	-	NC_000013.11:g.24912805A>G	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Leu75Ile	COSM946254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24912803G>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu77Val	rs543417576	missense variant	-	NC_000013.11:g.24912796T>A	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Lys79Arg	rs771706582	missense variant	-	NC_000013.11:g.24912790T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Lys79Asn	rs1262755018	missense variant	-	NC_000013.11:g.24912789C>A	gnomAD
CENPJ	Q9HC77	p.Lys79Arg	RCV000175902	missense variant	-	NC_000013.11:g.24912790T>C	ClinVar
CENPJ	Q9HC77	p.Glu81Val	rs747976277	missense variant	-	NC_000013.11:g.24912784T>A	ExAC,TOPMed
CENPJ	Q9HC77	p.Asn83Asp	rs778547054	missense variant	-	NC_000013.11:g.24912779T>C	ExAC
CENPJ	Q9HC77	p.Pro85Thr	rs9511510	missense variant	-	NC_000013.11:g.24912773G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro85Ala	rs9511510	missense variant	-	NC_000013.11:g.24912773G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro85Thr	RCV000317427	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24912773G>T	ClinVar
CENPJ	Q9HC77	p.Pro85Thr	RCV000372104	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24912773G>T	ClinVar
CENPJ	Q9HC77	p.Tyr86Ser	rs749211181	missense variant	-	NC_000013.11:g.24912769T>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr86Asn	rs1372407250	missense variant	-	NC_000013.11:g.24912770A>T	gnomAD
CENPJ	Q9HC77	p.Tyr86Cys	rs749211181	missense variant	-	NC_000013.11:g.24912769T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys87Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24912765T>A	NCI-TCGA
CENPJ	Q9HC77	p.Pro88Leu	rs779972329	missense variant	-	NC_000013.11:g.24912763G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro88Arg	rs779972329	missense variant	-	NC_000013.11:g.24912763G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro88Gln	rs779972329	missense variant	-	NC_000013.11:g.24912763G>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln89Ter	rs757473757	stop gained	-	NC_000013.11:g.24912761G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser90Leu	rs751690029	missense variant	-	NC_000013.11:g.24912757G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp91His	rs1176273110	missense variant	-	NC_000013.11:g.24912755C>G	gnomAD
CENPJ	Q9HC77	p.Lys92Asn	COSM279816	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24912750T>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ser93Thr	rs1455157031	missense variant	-	NC_000013.11:g.24912749A>T	gnomAD
CENPJ	Q9HC77	p.His96Arg	rs61739263	missense variant	-	NC_000013.11:g.24912739T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.His96Tyr	rs1253598251	missense variant	-	NC_000013.11:g.24912740G>A	gnomAD
CENPJ	Q9HC77	p.His96Gln	rs1449717876	missense variant	-	NC_000013.11:g.24912738A>T	gnomAD
CENPJ	Q9HC77	p.His96Arg	RCV000145572	missense variant	-	NC_000013.11:g.24912739T>C	ClinVar
CENPJ	Q9HC77	p.Thr97Ala	rs41306027	missense variant	-	NC_000013.11:g.24912737T>C	NCI-TCGA
CENPJ	Q9HC77	p.Thr97Ala	RCV000020853	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24912737T>C	ClinVar
CENPJ	Q9HC77	p.Thr97Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24912736G>A	NCI-TCGA
CENPJ	Q9HC77	p.Thr97Ala	rs41306027	missense variant	-	NC_000013.11:g.24912737T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr97Ter	RCV000400637	frameshift	-	NC_000013.11:g.24912737dup	ClinVar
CENPJ	Q9HC77	p.Ala98Gly	rs1284102879	missense variant	-	NC_000013.11:g.24912733G>C	gnomAD
CENPJ	Q9HC77	p.Phe99Val	rs1236620804	missense variant	-	NC_000013.11:g.24912731A>C	gnomAD
CENPJ	Q9HC77	p.Pro100Leu	rs1348661158	missense variant	-	NC_000013.11:g.24912727G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro100Ser	rs375122738	missense variant	-	NC_000013.11:g.24912728G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro100His	rs1348661158	missense variant	-	NC_000013.11:g.24912727G>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile102Asn	rs766858525	missense variant	-	NC_000013.11:g.24912721A>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile102Val	rs777017245	missense variant	-	NC_000013.11:g.24912722T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly105Ala	rs760242932	missense variant	-	NC_000013.11:g.24912712C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly105Val	rs760242932	missense variant	-	NC_000013.11:g.24912712C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Val108Ile	rs772676527	missense variant	-	NC_000013.11:g.24912704C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Ala109Thr	COSM1366061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24912701C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ala109Val	rs570574912	missense variant	-	NC_000013.11:g.24912700G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala110Thr	COSM3968580	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24912698C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Cys111Phe	rs1032295656	missense variant	-	NC_000013.11:g.24912694C>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro115Leu	rs1313113712	missense variant	-	NC_000013.11:g.24912682G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro115Ala	rs368085364	missense variant	-	NC_000013.11:g.24912683G>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly116Arg	rs966725061	missense variant	-	NC_000013.11:g.24912680C>T	TOPMed
CENPJ	Q9HC77	p.Gly116Ter	rs966725061	stop gained	-	NC_000013.11:g.24912680C>A	TOPMed
CENPJ	Q9HC77	p.His117Gln	rs1477006311	missense variant	-	NC_000013.11:g.24912675G>C	gnomAD
CENPJ	Q9HC77	p.Glu119Lys	rs909869387	missense variant	-	NC_000013.11:g.24912671C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu120Lys	rs1261368111	missense variant	-	NC_000013.11:g.24912668C>T	gnomAD
CENPJ	Q9HC77	p.Asn121Ser	COSM3467942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24912664T>C	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Asn121Lys	rs1021350282	missense variant	-	NC_000013.11:g.24912663G>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn121Asp	rs1213249983	missense variant	-	NC_000013.11:g.24912665T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn121Tyr	rs1213249983	missense variant	-	NC_000013.11:g.24912665T>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn121Lys	rs1021350282	missense variant	-	NC_000013.11:g.24912663G>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys122Arg	rs1454848000	missense variant	-	NC_000013.11:g.24912661T>C	TOPMed
CENPJ	Q9HC77	p.Asn123Tyr	COSM70141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24912659T>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ile126Leu	rs146704811	missense variant	-	NC_000013.11:g.24912650T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile126Leu	RCV000711284	missense variant	-	NC_000013.11:g.24912650T>G	ClinVar
CENPJ	Q9HC77	p.Ile126Phe	rs146704811	missense variant	-	NC_000013.11:g.24912650T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp128Glu	rs756092819	missense variant	-	NC_000013.11:g.24912642A>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp128Tyr	rs1342124367	missense variant	-	NC_000013.11:g.24912644C>A	gnomAD
CENPJ	Q9HC77	p.Asp128Tyr	rs1342124367	missense variant	-	NC_000013.11:g.24912644C>A	NCI-TCGA
CENPJ	Q9HC77	p.Ala130Val	rs190803157	missense variant	-	NC_000013.11:g.24912637G>A	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Ala130Gly	rs190803157	missense variant	-	NC_000013.11:g.24912637G>C	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Ala130Glu	rs190803157	missense variant	-	NC_000013.11:g.24912637G>T	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Ala130Thr	rs747137383	missense variant	-	NC_000013.11:g.24912638C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Ala130Val	RCV000480183	missense variant	-	NC_000013.11:g.24912637G>A	ClinVar
CENPJ	Q9HC77	p.Glu132Lys	COSM946253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24912632C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu132Val	rs752867567	missense variant	-	NC_000013.11:g.24912631T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu135Ter	COSM946252	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.24912623C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Gly136Arg	rs754225450	missense variant	-	NC_000013.11:g.24912620C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly136Arg	rs754225450	missense variant	-	NC_000013.11:g.24912620C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Ala137Gly	rs1412228659	missense variant	-	NC_000013.11:g.24912616G>C	gnomAD
CENPJ	Q9HC77	p.Ala137Ser	rs142121392	missense variant	-	NC_000013.11:g.24912617C>A	ESP,ExAC,gnomAD
CENPJ	Q9HC77	p.Ala137Thr	rs142121392	missense variant	-	NC_000013.11:g.24912617C>T	ESP,ExAC,gnomAD
CENPJ	Q9HC77	p.Tyr138Cys	rs1421598790	missense variant	-	NC_000013.11:g.24912613T>C	gnomAD
CENPJ	Q9HC77	p.Asp140Ala	RCV000321061	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24912607T>G	ClinVar
CENPJ	Q9HC77	p.Asp140Ala	rs201531824	missense variant	-	NC_000013.11:g.24912607T>G	1000Genomes,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp140Ala	RCV000266008	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24912607T>G	ClinVar
CENPJ	Q9HC77	p.Pro141Leu	rs773657253	missense variant	-	NC_000013.11:g.24912604G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Leu142Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24912601A>C	NCI-TCGA
CENPJ	Q9HC77	p.Leu142Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24912602G>T	NCI-TCGA
CENPJ	Q9HC77	p.Leu142Pro	rs886050102	missense variant	-	NC_000013.11:g.24912601A>G	-
CENPJ	Q9HC77	p.Leu142Pro	RCV000325131	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24912601A>G	ClinVar
CENPJ	Q9HC77	p.Leu142Pro	RCV000363508	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24912601A>G	ClinVar
CENPJ	Q9HC77	p.Phe143Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24912597A>T	NCI-TCGA
CENPJ	Q9HC77	p.Leu146His	rs773885117	missense variant	-	NC_000013.11:g.24912589A>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu151Gly	rs34177811	missense variant	-	NC_000013.11:g.24912062T>C	UniProt,dbSNP
CENPJ	Q9HC77	p.Glu151Gly	VAR_032431	missense variant	-	NC_000013.11:g.24912062T>C	UniProt
CENPJ	Q9HC77	p.Glu151Gly	rs34177811	missense variant	-	NC_000013.11:g.24912062T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu151Gly	RCV000020855	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24912062T>C	ClinVar
CENPJ	Q9HC77	p.Gln154Ter	rs202067008	stop gained	-	NC_000013.11:g.24912054G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys155Arg	rs1321475415	missense variant	-	NC_000013.11:g.24912050T>C	gnomAD
CENPJ	Q9HC77	p.Lys156Gln	RCV000177304	missense variant	-	NC_000013.11:g.24912048T>G	ClinVar
CENPJ	Q9HC77	p.Lys156Gln	rs794727515	missense variant	-	NC_000013.11:g.24912048T>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln157Ter	rs200213585	stop gained	-	NC_000013.11:g.24912045G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln157Ter	RCV000414256	nonsense	-	NC_000013.11:g.24912045G>A	ClinVar
CENPJ	Q9HC77	p.Gln157Arg	rs761300403	missense variant	-	NC_000013.11:g.24912044T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu158Asp	rs1470788362	missense variant	-	NC_000013.11:g.24912040T>G	TOPMed
CENPJ	Q9HC77	p.Gln159Lys	rs1327812314	missense variant	-	NC_000013.11:g.24912039G>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu160Ter	rs751052801	stop gained	-	NC_000013.11:g.24912035A>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys161Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24912031C>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu166Ter	rs1402674187	stop gained	-	NC_000013.11:g.24912018C>A	gnomAD
CENPJ	Q9HC77	p.Gln167Glu	rs775243978	missense variant	-	NC_000013.11:g.24912015G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Gln169Arg	rs1483876614	missense variant	-	NC_000013.11:g.24912008T>C	gnomAD
CENPJ	Q9HC77	p.Arg170Lys	rs1255503042	missense variant	-	NC_000013.11:g.24912005C>T	gnomAD
CENPJ	Q9HC77	p.Leu171Pro	rs1321302492	missense variant	-	NC_000013.11:g.24912002A>G	TOPMed
CENPJ	Q9HC77	p.Met172Val	rs769716275	missense variant	-	NC_000013.11:g.24912000T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Met172Lys	rs759348261	missense variant	-	NC_000013.11:g.24911999A>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Met172Thr	rs759348261	missense variant	-	NC_000013.11:g.24911999A>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu174Lys	rs776768235	missense variant	-	NC_000013.11:g.24911994C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu174Asp	rs770896055	missense variant	-	NC_000013.11:g.24911992T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Gln175Pro	rs748214133	missense variant	-	NC_000013.11:g.24911990T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu176Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24911986C>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu176Lys	rs571324508	missense variant	-	NC_000013.11:g.24911988C>T	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu176Gln	rs571324508	missense variant	-	NC_000013.11:g.24911988C>G	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu179Phe	rs149841677	missense variant	-	NC_000013.11:g.24911979G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu179Phe	RCV000503221	missense variant	-	NC_000013.11:g.24911979G>A	ClinVar
CENPJ	Q9HC77	p.Leu179Pro	rs780179490	missense variant	-	NC_000013.11:g.24911978A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr180Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24911975G>A	NCI-TCGA
CENPJ	Q9HC77	p.Met181Val	rs1323348631	missense variant	-	NC_000013.11:g.24911973T>C	gnomAD
CENPJ	Q9HC77	p.Met181Thr	rs750769941	missense variant	-	NC_000013.11:g.24911972A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Met181Ile	rs781695862	missense variant	-	NC_000013.11:g.24911971C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Cys186Tyr	rs763694655	missense variant	-	NC_000013.11:g.24911957C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Cys186Arg	RCV000371645	missense variant	-	NC_000013.11:g.24911958A>G	ClinVar
CENPJ	Q9HC77	p.Cys186Arg	rs886043933	missense variant	-	NC_000013.11:g.24911958A>G	TOPMed
CENPJ	Q9HC77	p.Cys186Tyr	rs763694655	missense variant	-	NC_000013.11:g.24911957C>T	NCI-TCGA,NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Pro189Ser	rs1396967246	missense variant	-	NC_000013.11:g.24911949G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu193Phe	rs558449977	missense variant	-	NC_000013.11:g.24910076T>G	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu194Pro	rs1257781973	missense variant	-	NC_000013.11:g.24910074A>G	gnomAD
CENPJ	Q9HC77	p.Pro195Leu	rs538260662	missense variant	-	NC_000013.11:g.24910071G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp196Asn	COSM3793212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24910069C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Gln198His	rs766228062	missense variant	-	NC_000013.11:g.24910061C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser199Arg	rs1428553511	missense variant	-	NC_000013.11:g.24910058G>T	TOPMed
CENPJ	Q9HC77	p.Gln200Glu	rs760317749	missense variant	-	NC_000013.11:g.24910057G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Gln200His	RCV000313304	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24910055C>A	ClinVar
CENPJ	Q9HC77	p.Gln200His	RCV000145582	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24910055C>A	ClinVar
CENPJ	Q9HC77	p.Gln200His	RCV000370339	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24910055C>A	ClinVar
CENPJ	Q9HC77	p.Gln200His	rs200061825	missense variant	-	NC_000013.11:g.24910055C>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln200His	RCV000765128	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24910055C>A	ClinVar
CENPJ	Q9HC77	p.Gln200His	RCV000711285	missense variant	-	NC_000013.11:g.24910055C>A	ClinVar
CENPJ	Q9HC77	p.His202Tyr	rs1039252651	missense variant	-	NC_000013.11:g.24910051G>A	TOPMed
CENPJ	Q9HC77	p.Pro205Leu	rs1342519105	missense variant	-	NC_000013.11:g.24910041G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr208Ala	rs199925549	missense variant	-	NC_000013.11:g.24910033T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr210Ser	rs1445574394	missense variant	-	NC_000013.11:g.24910026G>C	TOPMed
CENPJ	Q9HC77	p.Gly211Ala	rs1422221901	missense variant	-	NC_000013.11:g.24910023C>G	gnomAD
CENPJ	Q9HC77	p.Glu212Ter	rs765113367	stop gained	-	NC_000013.11:g.24910021C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu212Ter	RCV000760494	nonsense	-	NC_000013.11:g.24910021C>A	ClinVar
CENPJ	Q9HC77	p.Arg213SerPheSerTerUnkUnk	COSM946249	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.24910015_24910016CT>-	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg213Thr	rs1400151335	missense variant	-	NC_000013.11:g.24910017C>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala214Thr	rs769818191	missense variant	-	NC_000013.11:g.24910015C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Cys216Arg	RCV000724022	missense variant	-	NC_000013.11:g.24910009A>G	ClinVar
CENPJ	Q9HC77	p.Cys216Arg	RCV000338851	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24910009A>G	ClinVar
CENPJ	Q9HC77	p.Cys216Arg	rs143260721	missense variant	-	NC_000013.11:g.24910009A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Cys216Arg	RCV000402235	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24910009A>G	ClinVar
CENPJ	Q9HC77	p.Cys216Arg	RCV000178319	missense variant	-	NC_000013.11:g.24910009A>G	ClinVar
CENPJ	Q9HC77	p.Cys217Tyr	RCV000145584	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24910005C>T	ClinVar
CENPJ	Q9HC77	p.Cys217Tyr	rs587783412	missense variant	-	NC_000013.11:g.24910005C>T	TOPMed
CENPJ	Q9HC77	p.Cys217Gly	rs1457993377	missense variant	-	NC_000013.11:g.24910006A>C	TOPMed
CENPJ	Q9HC77	p.Phe218Leu	rs747322664	missense variant	-	NC_000013.11:g.24910001G>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro219Leu	rs139844197	missense variant	-	NC_000013.11:g.24909999G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro219Arg	rs139844197	missense variant	-	NC_000013.11:g.24909999G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro219Leu	RCV000396963	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24909999G>A	ClinVar
CENPJ	Q9HC77	p.Pro219Leu	RCV000281498	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24909999G>A	ClinVar
CENPJ	Q9HC77	p.Pro219Leu	RCV000499828	missense variant	-	NC_000013.11:g.24909999G>A	ClinVar
CENPJ	Q9HC77	p.Ser220Leu	rs201219786	missense variant	-	NC_000013.11:g.24909996G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser220Leu	RCV000287372	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24909996G>A	ClinVar
CENPJ	Q9HC77	p.Ser220Leu	RCV000340077	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24909996G>A	ClinVar
CENPJ	Q9HC77	p.Tyr221Cys	rs778349437	missense variant	-	NC_000013.11:g.24909993T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr221Phe	rs778349437	missense variant	-	NC_000013.11:g.24909993T>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr223Ter	RCV000122557	nonsense	-	NC_000013.11:g.24909986G>T	ClinVar
CENPJ	Q9HC77	p.Tyr223Ter	rs386352291	stop gained	-	NC_000013.11:g.24909986G>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr223Ter	rs386352291	stop gained	-	NC_000013.11:g.24909986G>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro224Leu	RCV000345794	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24909984G>A	ClinVar
CENPJ	Q9HC77	p.Pro224Leu	RCV000379386	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24909984G>A	ClinVar
CENPJ	Q9HC77	p.Pro224Leu	rs566700308	missense variant	-	NC_000013.11:g.24909984G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp225Asn	rs765885787	missense variant	-	NC_000013.11:g.24909982C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp225His	rs765885787	missense variant	-	NC_000013.11:g.24909982C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro226Ser	COSM4046703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24909979G>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Gln228Ter	rs1358176264	stop gained	-	NC_000013.11:g.24909973G>A	gnomAD
CENPJ	Q9HC77	p.Glu229Lys	COSM4905222	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24909970C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu229Ala	rs1001436266	missense variant	-	NC_000013.11:g.24909969T>G	TOPMed
CENPJ	Q9HC77	p.Glu230Ter	rs150843365	stop gained	-	NC_000013.11:g.24909967C>A	ESP,gnomAD
CENPJ	Q9HC77	p.Thr231Ile	rs755992806	missense variant	-	NC_000013.11:g.24909963G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Tyr232Ter	rs945015061	stop gained	-	NC_000013.11:g.24909959G>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr232Cys	rs970067066	missense variant	-	NC_000013.11:g.24909960T>C	TOPMed
CENPJ	Q9HC77	p.Pro233Leu	rs1011669002	missense variant	-	NC_000013.11:g.24909957G>A	TOPMed
CENPJ	Q9HC77	p.Asn235Ser	rs1376836399	missense variant	-	NC_000013.11:g.24909951T>C	gnomAD
CENPJ	Q9HC77	p.Ile236Val	COSM2069411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24909949T>C	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu240Lys	rs1329876474	missense variant	-	NC_000013.11:g.24909937C>T	gnomAD
CENPJ	Q9HC77	p.Gln241Ter	rs1388925042	stop gained	-	NC_000013.11:g.24909934G>A	gnomAD
CENPJ	Q9HC77	p.Gln241Arg	rs1268273927	missense variant	-	NC_000013.11:g.24909933T>C	TOPMed
CENPJ	Q9HC77	p.Ser242Asn	rs1310456339	missense variant	-	NC_000013.11:g.24909930C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg246Thr	rs1053207129	missense variant	-	NC_000013.11:g.24909918C>G	TOPMed
CENPJ	Q9HC77	p.Thr247Ala	rs770285570	missense variant	-	NC_000013.11:g.24909916T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr247Ala	RCV000288098	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24909916T>C	ClinVar
CENPJ	Q9HC77	p.Thr247Ala	RCV000384713	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24909916T>C	ClinVar
CENPJ	Q9HC77	p.His249Arg	rs774236915	missense variant	-	NC_000013.11:g.24909909T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp251His	rs952026517	missense variant	-	NC_000013.11:g.24909904C>G	gnomAD
CENPJ	Q9HC77	p.Asp251Val	rs765309335	missense variant	-	NC_000013.11:g.24909903T>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp251Gly	rs765309335	missense variant	-	NC_000013.11:g.24909903T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp251Asn	rs952026517	missense variant	-	NC_000013.11:g.24909904C>T	gnomAD
CENPJ	Q9HC77	p.Thr255Ala	RCV000593794	missense variant	-	NC_000013.11:g.24909892T>C	ClinVar
CENPJ	Q9HC77	p.Thr255Ala	rs150932292	missense variant	-	NC_000013.11:g.24909892T>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys257Glu	rs776969572	missense variant	-	NC_000013.11:g.24909886T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg258His	rs773425249	missense variant	-	NC_000013.11:g.24909882C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg258Cys	rs377197058	missense variant	-	NC_000013.11:g.24909883G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg258Cys	rs377197058	missense variant	-	NC_000013.11:g.24909883G>A	NCI-TCGA
CENPJ	Q9HC77	p.Arg258His	rs773425249	missense variant	-	NC_000013.11:g.24909882C>T	NCI-TCGA,NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg258Pro	rs773425249	missense variant	-	NC_000013.11:g.24909882C>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala259Val	rs532917061	missense variant	-	NC_000013.11:g.24909879G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala259Val	rs532917061	missense variant	-	NC_000013.11:g.24909879G>A	NCI-TCGA,NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Pro261Ser	rs779495227	missense variant	-	NC_000013.11:g.24909874G>A	ExAC
CENPJ	Q9HC77	p.Ser265Cys	rs1439208194	missense variant	-	NC_000013.11:g.24909861G>C	gnomAD
CENPJ	Q9HC77	p.Ala267Gly	rs1395328137	missense variant	-	NC_000013.11:g.24909855G>C	gnomAD
CENPJ	Q9HC77	p.Gln268Arg	rs768290788	missense variant	-	NC_000013.11:g.24909852T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr269Asp	rs1333598505	missense variant	-	NC_000013.11:g.24909850A>C	TOPMed
CENPJ	Q9HC77	p.Pro273Thr	rs779821157	missense variant	-	NC_000013.11:g.24909838G>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro273Ser	rs779821157	missense variant	-	NC_000013.11:g.24909838G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val274Met	rs755688351	missense variant	-	NC_000013.11:g.24909835C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val274Leu	rs755688351	missense variant	-	NC_000013.11:g.24909835C>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu275Ter	COSM946246	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.24909832C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Lys276Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24909828T>G	NCI-TCGA
CENPJ	Q9HC77	p.Asn277Ile	rs780998308	missense variant	-	NC_000013.11:g.24909825T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Asn277Ser	rs780998308	missense variant	-	NC_000013.11:g.24909825T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asn277Lys	rs756983305	missense variant	-	NC_000013.11:g.24909824A>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn277IlePheSerTerUnk	COSM2069410	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.24909825T>-	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Leu279Ter	rs751514661	stop gained	-	NC_000013.11:g.24909819A>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu281Lys	rs764007663	missense variant	-	NC_000013.11:g.24909814C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu282Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24909810T>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu282Lys	rs753832552	missense variant	-	NC_000013.11:g.24909811C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Asn283Ser	rs760827834	missense variant	-	NC_000013.11:g.24909807T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn283Thr	rs760827834	missense variant	-	NC_000013.11:g.24909807T>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg284Cys	rs141469869	missense variant	-	NC_000013.11:g.24909805G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg284His	rs369635681	missense variant	-	NC_000013.11:g.24909804C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn285Lys	rs1231598434	missense variant	-	NC_000013.11:g.24909800G>T	gnomAD
CENPJ	Q9HC77	p.His286Arg	rs868382934	missense variant	-	NC_000013.11:g.24909798T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro287Thr	rs775053445	missense variant	-	NC_000013.11:g.24909796G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr288Ile	rs1400239388	missense variant	-	NC_000013.11:g.24909792G>A	gnomAD
CENPJ	Q9HC77	p.Gly289Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24909790C>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu290Asp	rs774822629	missense variant	-	NC_000013.11:g.24908122T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser291Gly	rs764744653	missense variant	-	NC_000013.11:g.24908121T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu293Ser	rs1181756697	missense variant	-	NC_000013.11:g.24908114A>G	gnomAD
CENPJ	Q9HC77	p.Leu293Phe	rs368354292	missense variant	-	NC_000013.11:g.24908113T>G	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Cys294Arg	rs770232633	missense variant	-	NC_000013.11:g.24908112A>G	TOPMed
CENPJ	Q9HC77	p.Lys297Arg	rs374611651	missense variant	-	NC_000013.11:g.24908102T>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr299Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24908097T>C	NCI-TCGA
CENPJ	Q9HC77	p.Thr299Arg	rs1198465824	missense variant	-	NC_000013.11:g.24908096G>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr299Ile	rs1198465824	missense variant	-	NC_000013.11:g.24908096G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu300Ter	RCV000193152	frameshift	Seckel syndrome 4 (SCKL4)	NC_000013.11:g.24908094_24908095del	ClinVar
CENPJ	Q9HC77	p.Glu300Gly	rs1480670769	missense variant	-	NC_000013.11:g.24908093T>C	TOPMed
CENPJ	Q9HC77	p.Glu300Ter	RCV000825515	frameshift	Primary autosomal recessive microcephaly	NC_000013.11:g.24908094_24908095del	ClinVar
CENPJ	Q9HC77	p.Gln301His	rs776333154	missense variant	-	NC_000013.11:g.24908089C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Gln301Arg	rs552337792	missense variant	-	NC_000013.11:g.24908090T>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln301Ter	rs1422711365	stop gained	-	NC_000013.11:g.24908091G>A	TOPMed
CENPJ	Q9HC77	p.Gln301His	rs776333154	missense variant	-	NC_000013.11:g.24908089C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Gln303Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24908085G>A	NCI-TCGA
CENPJ	Q9HC77	p.Gln303Arg	rs770541336	missense variant	-	NC_000013.11:g.24908084T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu304Gly	rs1449785681	missense variant	-	NC_000013.11:g.24908081T>C	gnomAD
CENPJ	Q9HC77	p.Ala305Thr	rs746856312	missense variant	-	NC_000013.11:g.24908079C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Lys308Glu	rs1445832494	missense variant	-	NC_000013.11:g.24908070T>C	gnomAD
CENPJ	Q9HC77	p.Lys308Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24908068C>A	NCI-TCGA
CENPJ	Q9HC77	p.Asn309Asp	rs1352543004	missense variant	-	NC_000013.11:g.24908067T>C	gnomAD
CENPJ	Q9HC77	p.Gln311Ter	rs781115358	stop gained	-	NC_000013.11:g.24908061G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln311His	rs1161770651	missense variant	-	NC_000013.11:g.24908059T>G	gnomAD
CENPJ	Q9HC77	p.Gln311Arg	rs1345775893	missense variant	-	NC_000013.11:g.24908060T>C	TOPMed
CENPJ	Q9HC77	p.Gln311Glu	rs781115358	missense variant	-	NC_000013.11:g.24908061G>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp314Gly	rs758170212	missense variant	-	NC_000013.11:g.24908051T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp315Tyr	rs1438116637	missense variant	-	NC_000013.11:g.24908049C>A	TOPMed
CENPJ	Q9HC77	p.Ser316Tyr	rs200854686	missense variant	-	NC_000013.11:g.24908045G>T	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Ser316Phe	rs200854686	missense variant	-	NC_000013.11:g.24908045G>A	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Val319Ala	rs1248832607	missense variant	-	NC_000013.11:g.24908036A>G	gnomAD
CENPJ	Q9HC77	p.Asn321Asp	rs1222687471	missense variant	-	NC_000013.11:g.24908031T>C	gnomAD
CENPJ	Q9HC77	p.Ile322Thr	rs756202279	missense variant	-	NC_000013.11:g.24908027A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro326Arg	rs754909675	missense variant	-	NC_000013.11:g.24907191G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Ile327Val	rs745991478	missense variant	-	NC_000013.11:g.24907189T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile331Val	rs757342782	missense variant	-	NC_000013.11:g.24907177T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly332Glu	rs1433040973	missense variant	-	NC_000013.11:g.24907173C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln336Pro	rs552652464	missense variant	-	NC_000013.11:g.24907161T>G	gnomAD
CENPJ	Q9HC77	p.Gln336Ter	rs764367320	stop gained	-	NC_000013.11:g.24907162G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Phe338Ser	rs1263390589	missense variant	-	NC_000013.11:g.24907155A>G	gnomAD
CENPJ	Q9HC77	p.Glu339Lys	COSM3885139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24907153C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu339Asp	rs368254915	missense variant	-	NC_000013.11:g.24907151T>G	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr341Asp	RCV000354935	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24907147A>C	ClinVar
CENPJ	Q9HC77	p.Tyr341Asp	RCV000725452	missense variant	-	NC_000013.11:g.24907147A>C	ClinVar
CENPJ	Q9HC77	p.Tyr341Asp	RCV000193327	missense variant	-	NC_000013.11:g.24907147A>C	ClinVar
CENPJ	Q9HC77	p.Tyr341Asp	RCV000276505	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24907147A>C	ClinVar
CENPJ	Q9HC77	p.Tyr341Cys	rs1257753523	missense variant	-	NC_000013.11:g.24907146T>C	gnomAD
CENPJ	Q9HC77	p.Tyr341Asp	rs143258862	missense variant	-	NC_000013.11:g.24907147A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu342Phe	COSM268870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24907142T>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu343Gly	rs765714029	missense variant	-	NC_000013.11:g.24907140T>C	ExAC
CENPJ	Q9HC77	p.Glu344Ter	RCV000312574	frameshift	-	NC_000013.11:g.24907140del	ClinVar
CENPJ	Q9HC77	p.Gln347Pro	rs754304759	missense variant	-	NC_000013.11:g.24907128T>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu350Val	rs1380645052	missense variant	-	NC_000013.11:g.24907119T>A	gnomAD
CENPJ	Q9HC77	p.Glu350Gln	rs140363392	missense variant	-	NC_000013.11:g.24907120C>G	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu352Gln	RCV000179504	missense variant	-	NC_000013.11:g.24907114C>G	ClinVar
CENPJ	Q9HC77	p.Glu352Gln	rs376146674	missense variant	-	NC_000013.11:g.24907114C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln357ThrPheSerTerUnkUnk	COSM1366056	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.24907099_24907100insT	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ala361Val	rs1164889941	missense variant	-	NC_000013.11:g.24906956G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly363Arg	COSM3467939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906951C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Lys372Asn	rs1347308507	missense variant	-	NC_000013.11:g.24906922T>G	TOPMed
CENPJ	Q9HC77	p.Lys372Asn	rs1347308507	missense variant	-	NC_000013.11:g.24906922T>A	TOPMed
CENPJ	Q9HC77	p.Pro374Thr	rs749913523	missense variant	-	NC_000013.11:g.24906918G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg378Gln	rs761545596	missense variant	-	NC_000013.11:g.24906905C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg378Ter	rs201111299	stop gained	-	NC_000013.11:g.24906906G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg378Ter	RCV000599328	nonsense	-	NC_000013.11:g.24906906G>A	ClinVar
CENPJ	Q9HC77	p.Glu380Asp	rs768588371	missense variant	-	NC_000013.11:g.24906898T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly381Asp	rs141108496	missense variant	-	NC_000013.11:g.24906896C>T	ESP,ExAC,TOPMed
CENPJ	Q9HC77	p.Gly381Val	rs141108496	missense variant	-	NC_000013.11:g.24906896C>A	ESP,ExAC,TOPMed
CENPJ	Q9HC77	p.Arg384Gly	rs373685584	missense variant	-	NC_000013.11:g.24906888T>C	ESP,ExAC,gnomAD
CENPJ	Q9HC77	p.Phe385Tyr	rs200461422	missense variant	-	NC_000013.11:g.24906884A>T	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Lys391Glu	rs1423526286	missense variant	-	NC_000013.11:g.24906867T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Phe392Ser	rs778941522	missense variant	-	NC_000013.11:g.24906863A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Phe392Val	rs748409143	missense variant	-	NC_000013.11:g.24906864A>C	ExAC
CENPJ	Q9HC77	p.Phe392Leu	rs1440248746	missense variant	-	NC_000013.11:g.24906862A>T	gnomAD
CENPJ	Q9HC77	p.Gln393Glu	rs1363121699	missense variant	-	NC_000013.11:g.24906861G>C	gnomAD
CENPJ	Q9HC77	p.Lys394Ile	COSM6138890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906857T>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Gly395Val	rs1434652818	missense variant	-	NC_000013.11:g.24906854C>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu397Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906848T>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu397Ter	rs1222002107	stop gained	-	NC_000013.11:g.24906849C>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu397Gln	rs1222002107	missense variant	-	NC_000013.11:g.24906849C>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu397Gly	rs1489903401	missense variant	-	NC_000013.11:g.24906848T>C	gnomAD
CENPJ	Q9HC77	p.Lys399Glu	rs780574921	missense variant	-	NC_000013.11:g.24906843T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr402Ala	COSM946245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906834T>C	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Asn403Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906830T>C	NCI-TCGA
CENPJ	Q9HC77	p.Gln404Glu	rs750844765	missense variant	-	NC_000013.11:g.24906828G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Gln404Ter	rs750844765	stop gained	-	NC_000013.11:g.24906828G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser405Gly	rs756665975	missense variant	-	NC_000013.11:g.24906825T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser405Cys	rs756665975	missense variant	-	NC_000013.11:g.24906825T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser407Phe	rs368895686	missense variant	-	NC_000013.11:g.24906818G>A	ESP,ExAC,gnomAD
CENPJ	Q9HC77	p.Glu408Lys	rs192296063	missense variant	-	NC_000013.11:g.24906816C>T	1000Genomes,ExAC,TOPMed
CENPJ	Q9HC77	p.Asp409Ala	rs775407768	missense variant	-	NC_000013.11:g.24906812T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp409Asn	COSM432242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906813C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Asp409His	rs1363259864	missense variant	-	NC_000013.11:g.24906813C>G	gnomAD
CENPJ	Q9HC77	p.Asp409Glu	rs765079838	missense variant	-	NC_000013.11:g.24906811G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro411Ser	RCV000767190	missense variant	-	NC_000013.11:g.24906807G>A	ClinVar
CENPJ	Q9HC77	p.Pro411Arg	rs776367665	missense variant	-	NC_000013.11:g.24906806G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro411Leu	rs776367665	missense variant	-	NC_000013.11:g.24906806G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro411Ser	rs145433187	missense variant	-	NC_000013.11:g.24906807G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro411Ser	RCV000500777	missense variant	-	NC_000013.11:g.24906807G>A	ClinVar
CENPJ	Q9HC77	p.Leu412Val	rs1198332937	missense variant	-	NC_000013.11:g.24906804G>C	gnomAD
CENPJ	Q9HC77	p.Phe413Ser	rs748160741	missense variant	-	NC_000013.11:g.24906800A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Met415Thr	rs146733633	missense variant	-	NC_000013.11:g.24906794A>G	ESP,ExAC,TOPMed
CENPJ	Q9HC77	p.Asp416Gly	rs149680977	missense variant	-	NC_000013.11:g.24906791T>C	ESP,ExAC
CENPJ	Q9HC77	p.Arg417Ile	COSM946244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906788C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Gln418Ter	RCV000760643	nonsense	-	NC_000013.11:g.24906786G>A	ClinVar
CENPJ	Q9HC77	p.Gln418His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906784C>G	NCI-TCGA
CENPJ	Q9HC77	p.Gln418His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906784C>A	NCI-TCGA
CENPJ	Q9HC77	p.Gln418Arg	rs1223529672	missense variant	-	NC_000013.11:g.24906785T>C	TOPMed
CENPJ	Q9HC77	p.Gln419Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24906783G>A	NCI-TCGA
CENPJ	Q9HC77	p.Gln421His	rs201088712	missense variant	-	NC_000013.11:g.24906775C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln421His	RCV000194381	missense variant	Seckel syndrome 4 (SCKL4)	NC_000013.11:g.24906775C>G	ClinVar
CENPJ	Q9HC77	p.Arg422Leu	rs1346258877	missense variant	-	NC_000013.11:g.24906773C>A	gnomAD
CENPJ	Q9HC77	p.Arg422Trp	rs773524787	missense variant	-	NC_000013.11:g.24906774G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg422Gln	rs1346258877	missense variant	-	NC_000013.11:g.24906773C>T	gnomAD
CENPJ	Q9HC77	p.Lys423Glu	rs751003787	missense variant	-	NC_000013.11:g.24906771T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr424Ala	rs189999960	missense variant	-	NC_000013.11:g.24906768T>C	1000Genomes,TOPMed
CENPJ	Q9HC77	p.Ala425Thr	rs758150747	missense variant	-	NC_000013.11:g.24906765C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala425Thr	RCV000414258	missense variant	-	NC_000013.11:g.24906765C>T	ClinVar
CENPJ	Q9HC77	p.Leu426Phe	rs1391032548	missense variant	-	NC_000013.11:g.24906762G>A	TOPMed
CENPJ	Q9HC77	p.Lys427Asn	rs752361979	missense variant	-	NC_000013.11:g.24906757T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Lys429Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906752T>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu430Gln	rs794727874	missense variant	-	NC_000013.11:g.24906750C>G	-
CENPJ	Q9HC77	p.Glu430Gln	RCV000179956	missense variant	-	NC_000013.11:g.24906750C>G	ClinVar
CENPJ	Q9HC77	p.Cys432Phe	rs936888723	missense variant	-	NC_000013.11:g.24906743C>A	TOPMed
CENPJ	Q9HC77	p.Asp434Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906736G>C	NCI-TCGA
CENPJ	Q9HC77	p.Asn435Ser	rs144728497	missense variant	-	NC_000013.11:g.24906734T>C	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Ile437Val	rs373957672	missense variant	-	NC_000013.11:g.24906729T>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys440Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906718C>A	NCI-TCGA
CENPJ	Q9HC77	p.Asp441Gly	rs1168709327	missense variant	-	NC_000013.11:g.24906716T>C	gnomAD
CENPJ	Q9HC77	p.Ser442Gly	rs140783578	missense variant	-	NC_000013.11:g.24906714T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg445Lys	rs774388300	missense variant	-	NC_000013.11:g.24906704C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys447Ter	RCV000192408	nonsense	Seckel syndrome 4 (SCKL4)	NC_000013.11:g.24906699T>A	ClinVar
CENPJ	Q9HC77	p.Lys447Ter	rs797045447	stop gained	-	NC_000013.11:g.24906699T>A	-
CENPJ	Q9HC77	p.Thr452Ile	rs768672972	missense variant	-	NC_000013.11:g.24906683G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys456Asn	rs749542389	missense variant	-	NC_000013.11:g.24906670C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro457Ala	rs1226763313	missense variant	-	NC_000013.11:g.24906669G>C	TOPMed
CENPJ	Q9HC77	p.Pro457Leu	rs775620944	missense variant	-	NC_000013.11:g.24906668G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Met459Ile	rs1259649636	missense variant	-	NC_000013.11:g.24906661C>G	gnomAD
CENPJ	Q9HC77	p.Cys462Arg	rs370600878	missense variant	-	NC_000013.11:g.24906654A>G	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Cys462Tyr	rs781743178	missense variant	-	NC_000013.11:g.24906653C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser463Gly	rs1467713707	missense variant	-	NC_000013.11:g.24906651T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg465Gly	rs150929664	missense variant	-	NC_000013.11:g.24906645T>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys466Ile	rs777459640	missense variant	-	NC_000013.11:g.24906641T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Leu468Ile	COSM1366054	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906636G>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ser469Phe	rs752413427	missense variant	-	NC_000013.11:g.24906632G>A	ExAC,TOPMed
CENPJ	Q9HC77	p.Ser469Cys	rs752413427	missense variant	-	NC_000013.11:g.24906632G>C	ExAC,TOPMed
CENPJ	Q9HC77	p.Ser469Ter	RCV000194484	frameshift	Seckel syndrome 4 (SCKL4)	NC_000013.11:g.24906634_24906637del	ClinVar
CENPJ	Q9HC77	p.Pro470Leu	rs142535552	missense variant	-	NC_000013.11:g.24906629G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys474Ter	rs753542072	stop gained	-	NC_000013.11:g.24906618T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ile475Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906613T>C	NCI-TCGA
CENPJ	Q9HC77	p.Gln476Ter	rs766383740	stop gained	-	NC_000013.11:g.24906612G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr477Met	RCV000355343	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24906608G>A	ClinVar
CENPJ	Q9HC77	p.Thr477Met	RCV000302891	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24906608G>A	ClinVar
CENPJ	Q9HC77	p.Thr477Met	rs193181742	missense variant	-	NC_000013.11:g.24906608G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly478Arg	rs1395000072	missense variant	-	NC_000013.11:g.24906606C>T	TOPMed
CENPJ	Q9HC77	p.Lys479Arg	rs1391251654	missense variant	-	NC_000013.11:g.24906602T>C	TOPMed
CENPJ	Q9HC77	p.Lys480Arg	rs1334938627	missense variant	-	NC_000013.11:g.24906599T>C	TOPMed
CENPJ	Q9HC77	p.Asp482Val	rs1459433302	missense variant	-	NC_000013.11:g.24906593T>A	gnomAD
CENPJ	Q9HC77	p.Gly483Arg	rs1233820410	missense variant	-	NC_000013.11:g.24906591C>T	gnomAD
CENPJ	Q9HC77	p.Gln484Ter	rs568605539	stop gained	-	NC_000013.11:g.24906588G>A	1000Genomes
CENPJ	Q9HC77	p.Phe485Cys	rs367961521	missense variant	-	NC_000013.11:g.24906584A>C	ESP,ExAC,gnomAD
CENPJ	Q9HC77	p.Asp487Glu	rs201262549	missense variant	-	NC_000013.11:g.24906577G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile489Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906572A>G	NCI-TCGA
CENPJ	Q9HC77	p.Lys494Arg	rs759995935	missense variant	-	NC_000013.11:g.24906557T>C	ExAC
CENPJ	Q9HC77	p.Thr496Ile	rs776882571	missense variant	-	NC_000013.11:g.24906551G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser497Pro	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906549A>G	NCI-TCGA
CENPJ	Q9HC77	p.Asn498Asp	rs771290889	missense variant	-	NC_000013.11:g.24906546T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn499His	rs747527441	missense variant	-	NC_000013.11:g.24906543T>G	ExAC
CENPJ	Q9HC77	p.Lys500Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906539T>C	NCI-TCGA
CENPJ	Q9HC77	p.Glu501Ter	COSM3417485	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.24906537C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu501Lys	rs778370058	missense variant	-	NC_000013.11:g.24906537C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr504Ala	rs771769227	missense variant	-	NC_000013.11:g.24906528T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr504Ala	RCV000595546	missense variant	-	NC_000013.11:g.24906528T>C	ClinVar
CENPJ	Q9HC77	p.Glu505Lys	RCV000145554	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24906525C>T	ClinVar
CENPJ	Q9HC77	p.Glu505Lys	RCV000515181	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24906525C>T	ClinVar
CENPJ	Q9HC77	p.Glu505Lys	RCV000398895	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24906525C>T	ClinVar
CENPJ	Q9HC77	p.Glu505Lys	rs145679691	missense variant	-	NC_000013.11:g.24906525C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu505Lys	RCV000179958	missense variant	-	NC_000013.11:g.24906525C>T	ClinVar
CENPJ	Q9HC77	p.Glu505Lys	RCV000342414	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24906525C>T	ClinVar
CENPJ	Q9HC77	p.Pro507Leu	rs754561101	missense variant	-	NC_000013.11:g.24906518G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro509Ser	rs1256320879	missense variant	-	NC_000013.11:g.24906513G>A	TOPMed
CENPJ	Q9HC77	p.Cys510Arg	rs1185405430	missense variant	-	NC_000013.11:g.24906510A>G	TOPMed
CENPJ	Q9HC77	p.Asp511Asn	rs779744322	missense variant	-	NC_000013.11:g.24906507C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp511Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906507C>A	NCI-TCGA
CENPJ	Q9HC77	p.Thr512Ile	rs750372230	missense variant	-	NC_000013.11:g.24906503G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly513Ala	rs187274165	missense variant	-	NC_000013.11:g.24906500C>G	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Gly513Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906500C>T	NCI-TCGA
CENPJ	Q9HC77	p.Cys514Tyr	rs542047415	missense variant	-	NC_000013.11:g.24906497C>T	gnomAD
CENPJ	Q9HC77	p.Thr515Ala	rs1461970989	missense variant	-	NC_000013.11:g.24906495T>C	TOPMed
CENPJ	Q9HC77	p.Thr515Lys	rs1230889329	missense variant	-	NC_000013.11:g.24906494G>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr515Arg	rs1230889329	missense variant	-	NC_000013.11:g.24906494G>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly516Arg	rs1224235471	missense variant	-	NC_000013.11:g.24906492C>T	gnomAD
CENPJ	Q9HC77	p.Gly516Val	rs752752159	missense variant	-	NC_000013.11:g.24906491C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Trp517Gly	rs765312320	missense variant	-	NC_000013.11:g.24906489A>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asn518Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906485T>G	NCI-TCGA
CENPJ	Q9HC77	p.Lys519Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906481C>G	NCI-TCGA
CENPJ	Q9HC77	p.Lys519Arg	rs1219572563	missense variant	-	NC_000013.11:g.24906482T>C	gnomAD
CENPJ	Q9HC77	p.Thr520Ala	rs1355799944	missense variant	-	NC_000013.11:g.24906480T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr520Ser	rs1355799944	missense variant	-	NC_000013.11:g.24906480T>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly522Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906473C>A	NCI-TCGA
CENPJ	Q9HC77	p.Gly522Ser	rs1312299186	missense variant	-	NC_000013.11:g.24906474C>T	TOPMed
CENPJ	Q9HC77	p.Asp524Gly	rs1370906731	missense variant	-	NC_000013.11:g.24906467T>C	gnomAD
CENPJ	Q9HC77	p.Asp524His	rs1335527594	missense variant	-	NC_000013.11:g.24906468C>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp524Tyr	rs1335527594	missense variant	-	NC_000013.11:g.24906468C>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu526His	rs1405781253	missense variant	-	NC_000013.11:g.24906461A>T	gnomAD
CENPJ	Q9HC77	p.Pro527Arg	rs771216611	missense variant	-	NC_000013.11:g.24906458G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Leu528Phe	rs773921055	missense variant	-	NC_000013.11:g.24906456G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu528Ile	rs773921055	missense variant	-	NC_000013.11:g.24906456G>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser529Ter	rs202058504	stop gained	-	NC_000013.11:g.24906452G>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser529Ter	RCV000762912	nonsense	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24906452G>C	ClinVar
CENPJ	Q9HC77	p.Thr530Ile	rs747706803	missense variant	-	NC_000013.11:g.24906449G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly531Arg	COSM3885137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906447C>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Pro532Leu	RCV000344042	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24906443G>A	ClinVar
CENPJ	Q9HC77	p.Pro532Leu	RCV000291472	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24906443G>A	ClinVar
CENPJ	Q9HC77	p.Pro532Leu	rs371842504	missense variant	-	NC_000013.11:g.24906443G>A	ESP,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro532Arg	rs371842504	missense variant	-	NC_000013.11:g.24906443G>C	ESP,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala533Val	rs768172446	missense variant	-	NC_000013.11:g.24906440G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg535Trp	rs150608591	missense variant	-	NC_000013.11:g.24906435G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg535Gln	rs755959524	missense variant	-	NC_000013.11:g.24906434C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu536Val	rs142797862	missense variant	-	NC_000013.11:g.24906432G>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala537Val	rs1314983092	missense variant	-	NC_000013.11:g.24906428G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala538Val	rs1425796278	missense variant	-	NC_000013.11:g.24906425G>A	gnomAD
CENPJ	Q9HC77	p.Ser540Cys	rs781157755	missense variant	-	NC_000013.11:g.24906420T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser540Ile	rs1433358566	missense variant	-	NC_000013.11:g.24906419C>A	TOPMed
CENPJ	Q9HC77	p.Pro541Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906417G>A	NCI-TCGA
CENPJ	Q9HC77	p.Pro541Arg	rs918582035	missense variant	-	NC_000013.11:g.24906416G>C	gnomAD
CENPJ	Q9HC77	p.Ile542Val	rs747497271	missense variant	-	NC_000013.11:g.24906414T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile542Leu	rs747497271	missense variant	-	NC_000013.11:g.24906414T>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg543Gly	rs376309107	missense variant	-	NC_000013.11:g.24906411T>C	gnomAD
CENPJ	Q9HC77	p.Arg543Ser	rs1359658452	missense variant	-	NC_000013.11:g.24906409C>A	TOPMed
CENPJ	Q9HC77	p.Glu544Gly	rs765240422	missense variant	-	NC_000013.11:g.24906407T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Met546Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906400C>G	NCI-TCGA
CENPJ	Q9HC77	p.Met546Ile	rs566047476	missense variant	-	NC_000013.11:g.24906400C>A	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Met546Ile	rs566047476	missense variant	-	NC_000013.11:g.24906400C>T	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Lys547Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906399T>C	NCI-TCGA
CENPJ	Q9HC77	p.Glu548Ter	rs1555297827	stop gained	-	NC_000013.11:g.24906396C>A	-
CENPJ	Q9HC77	p.Glu548GlyPheSerTerUnkUnk	COSM5832169	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.24906395T>-	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu548Ter	RCV000579153	nonsense	-	NC_000013.11:g.24906396C>A	ClinVar
CENPJ	Q9HC77	p.Glu550Gly	rs761158184	missense variant	-	NC_000013.11:g.24906389T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu550Gln	rs766622624	missense variant	-	NC_000013.11:g.24906390C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Val555Ile	rs767940867	missense variant	-	NC_000013.11:g.24906375C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln558Arg	rs552424988	missense variant	-	NC_000013.11:g.24906365T>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys559Glu	rs1173812709	missense variant	-	NC_000013.11:g.24906363T>C	gnomAD
CENPJ	Q9HC77	p.Leu561Ter	RCV000317125	frameshift	-	NC_000013.11:g.24906356_24906359del	ClinVar
CENPJ	Q9HC77	p.Glu562Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906354C>G	NCI-TCGA
CENPJ	Q9HC77	p.Glu565Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24906345C>A	NCI-TCGA
CENPJ	Q9HC77	p.Arg566Gln	rs748815881	missense variant	-	NC_000013.11:g.24906341C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg566Ter	RCV000369854	nonsense	-	NC_000013.11:g.24906342G>A	ClinVar
CENPJ	Q9HC77	p.Arg566Ter	rs138228629	stop gained	-	NC_000013.11:g.24906342G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu567Ala	rs775047027	missense variant	-	NC_000013.11:g.24906338T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Lys568Arg	rs1244868604	missense variant	-	NC_000013.11:g.24906335T>C	gnomAD
CENPJ	Q9HC77	p.Glu569Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906331T>G	NCI-TCGA
CENPJ	Q9HC77	p.Glu569Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906332T>G	NCI-TCGA
CENPJ	Q9HC77	p.Lys570Asn	rs769416706	missense variant	-	NC_000013.11:g.24906328C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu571Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906325T>G	NCI-TCGA
CENPJ	Q9HC77	p.Glu571Gln	rs745474140	missense variant	-	NC_000013.11:g.24906327C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp576Gly	rs780997891	missense variant	-	NC_000013.11:g.24906311T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu577Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906309C>T	NCI-TCGA
CENPJ	Q9HC77	p.Leu579Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906303A>C	NCI-TCGA
CENPJ	Q9HC77	p.Leu579Phe	rs1308231125	missense variant	-	NC_000013.11:g.24906301C>G	gnomAD
CENPJ	Q9HC77	p.Phe580Leu	rs1269831209	missense variant	-	NC_000013.11:g.24906298A>C	TOPMed
CENPJ	Q9HC77	p.Phe580Leu	rs756983191	missense variant	-	NC_000013.11:g.24906300A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu582Gln	rs1453130615	missense variant	-	NC_000013.11:g.24906294C>G	TOPMed
CENPJ	Q9HC77	p.Gln583His	rs746938343	missense variant	-	NC_000013.11:g.24906289T>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala584Val	rs777755478	missense variant	-	NC_000013.11:g.24906287G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ala585Gly	rs1441589373	missense variant	-	NC_000013.11:g.24906284G>C	TOPMed
CENPJ	Q9HC77	p.Asp586His	COSM6138891	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906282C>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ile588Val	rs1344857618	missense variant	-	NC_000013.11:g.24906276T>C	TOPMed
CENPJ	Q9HC77	p.Ser589Leu	COSM5542732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906272G>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ser589Pro	rs375530899	missense variant	-	NC_000013.11:g.24906273A>G	ESP,TOPMed,gnomAD
CENPJ	Q9HC77	p.Phe590Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906268A>C	NCI-TCGA
CENPJ	Q9HC77	p.Ser591Phe	rs753919955	missense variant	-	NC_000013.11:g.24906266G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser592IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24906263C>-	NCI-TCGA
CENPJ	Q9HC77	p.Ser595Ter	rs145529173	stop gained	-	NC_000013.11:g.24906254G>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser595Leu	rs145529173	missense variant	-	NC_000013.11:g.24906254G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Phe596Leu	rs756422360	missense variant	-	NC_000013.11:g.24906250A>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg603Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906231T>C	NCI-TCGA
CENPJ	Q9HC77	p.Gln605Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24906225G>A	NCI-TCGA
CENPJ	Q9HC77	p.Gln605Lys	rs982044132	missense variant	-	NC_000013.11:g.24906225G>T	TOPMed
CENPJ	Q9HC77	p.Gln605Arg	rs750630338	missense variant	-	NC_000013.11:g.24906224T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln606Arg	rs1285278694	missense variant	-	NC_000013.11:g.24906221T>C	gnomAD
CENPJ	Q9HC77	p.Gln606His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906220C>A	NCI-TCGA
CENPJ	Q9HC77	p.Gln606His	rs775885818	missense variant	-	NC_000013.11:g.24906220C>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile607Met	rs1380974868	missense variant	-	NC_000013.11:g.24906217G>C	gnomAD
CENPJ	Q9HC77	p.Ile607LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24906219_24906220insAAAAGGAGAG	NCI-TCGA
CENPJ	Q9HC77	p.Gly610Ser	rs774777085	missense variant	-	NC_000013.11:g.24906210C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg612Trp	rs764657242	missense variant	-	NC_000013.11:g.24906204G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg612Gln	rs141856342	missense variant	-	NC_000013.11:g.24906203C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg612Pro	rs141856342	missense variant	-	NC_000013.11:g.24906203C>G	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg612Trp	RCV000179959	missense variant	-	NC_000013.11:g.24906204G>A	ClinVar
CENPJ	Q9HC77	p.Met613Thr	rs1197292727	missense variant	-	NC_000013.11:g.24906200A>G	gnomAD
CENPJ	Q9HC77	p.Thr616Ala	rs1481095523	missense variant	-	NC_000013.11:g.24906192T>C	gnomAD
CENPJ	Q9HC77	p.Thr616Ile	rs775089559	missense variant	-	NC_000013.11:g.24906191G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro617Ter	RCV000192528	frameshift	Seckel syndrome 4 (SCKL4)	NC_000013.11:g.24906187_24906188del	ClinVar
CENPJ	Q9HC77	p.Pro617Ser	rs573822147	missense variant	-	NC_000013.11:g.24906189G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala620Gly	rs563328044	missense variant	-	NC_000013.11:g.24906179G>C	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Gln623Arg	rs1392306569	missense variant	-	NC_000013.11:g.24906170T>C	gnomAD
CENPJ	Q9HC77	p.Gln623Ter	rs371080558	stop gained	-	NC_000013.11:g.24906171G>A	ESP,ExAC,gnomAD
CENPJ	Q9HC77	p.Lys624Glu	rs777614000	missense variant	-	NC_000013.11:g.24906168T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro627Leu	rs772020507	missense variant	-	NC_000013.11:g.24906158G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro627Leu	RCV000193551	missense variant	-	NC_000013.11:g.24906158G>A	ClinVar
CENPJ	Q9HC77	p.Ala628Ter	RCV000194611	frameshift	Seckel syndrome 4 (SCKL4)	NC_000013.11:g.24906157del	ClinVar
CENPJ	Q9HC77	p.Asp629Val	rs1163594686	missense variant	-	NC_000013.11:g.24906152T>A	gnomAD
CENPJ	Q9HC77	p.Asp629Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906153C>A	NCI-TCGA
CENPJ	Q9HC77	p.Pro630His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906149G>T	NCI-TCGA
CENPJ	Q9HC77	p.Pro630Arg	rs780307806	missense variant	-	NC_000013.11:g.24906149G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro630Thr	rs1443967769	missense variant	-	NC_000013.11:g.24906150G>T	gnomAD
CENPJ	Q9HC77	p.Ile631Val	rs1175557218	missense variant	-	NC_000013.11:g.24906147T>C	TOPMed
CENPJ	Q9HC77	p.His633Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906141G>C	NCI-TCGA
CENPJ	Q9HC77	p.Arg636Leu	rs143155104	missense variant	-	NC_000013.11:g.24906131C>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg636His	rs143155104	missense variant	-	NC_000013.11:g.24906131C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser637Arg	rs1221775293	missense variant	-	NC_000013.11:g.24906129T>G	gnomAD
CENPJ	Q9HC77	p.Ser637Asn	rs561179427	missense variant	-	NC_000013.11:g.24906128C>T	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Ser637Ile	rs561179427	missense variant	-	NC_000013.11:g.24906128C>A	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Asp639Gly	rs1179031216	missense variant	-	NC_000013.11:g.24906122T>C	gnomAD
CENPJ	Q9HC77	p.Thr643Ala	rs759037123	missense variant	-	NC_000013.11:g.24906111T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr643Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906110G>A	NCI-TCGA
CENPJ	Q9HC77	p.Ala644Val	rs776335182	missense variant	-	NC_000013.11:g.24906107G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg645His	rs773079639	missense variant	-	NC_000013.11:g.24906104C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg645Gly	rs541232925	missense variant	-	NC_000013.11:g.24906105G>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg645Cys	rs541232925	missense variant	-	NC_000013.11:g.24906105G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg645His	RCV000292697	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24906104C>T	ClinVar
CENPJ	Q9HC77	p.Arg645His	RCV000389328	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24906104C>T	ClinVar
CENPJ	Q9HC77	p.Glu646Lys	COSM696909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24906102C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu646Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906100C>G	NCI-TCGA
CENPJ	Q9HC77	p.Glu646Gly	rs1423432222	missense variant	-	NC_000013.11:g.24906101T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu648Ala	rs745424299	missense variant	-	NC_000013.11:g.24906095T>G	gnomAD
CENPJ	Q9HC77	p.Glu648Gly	rs745424299	missense variant	-	NC_000013.11:g.24906095T>C	gnomAD
CENPJ	Q9HC77	p.Glu650ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24906086_24906089CACT>-	NCI-TCGA
CENPJ	Q9HC77	p.GluCysGlu650GluTerUnk	rs772666800	stop gained	-	NC_000013.11:g.24906087_24906088del	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala654Thr	RCV000604935	missense variant	-	NC_000013.11:g.24906078C>T	ClinVar
CENPJ	Q9HC77	p.Ala654Val	rs1225292635	missense variant	-	NC_000013.11:g.24906077G>A	gnomAD
CENPJ	Q9HC77	p.Ala654Thr	rs140927921	missense variant	-	NC_000013.11:g.24906078C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala654Pro	rs140927921	missense variant	-	NC_000013.11:g.24906078C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys656Arg	rs781603702	missense variant	-	NC_000013.11:g.24906071T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln657Ter	rs797045450	stop gained	-	NC_000013.11:g.24906069G>A	gnomAD
CENPJ	Q9HC77	p.Gln657Ter	RCV000192998	nonsense	Seckel syndrome 4 (SCKL4)	NC_000013.11:g.24906069G>A	ClinVar
CENPJ	Q9HC77	p.Gln657Pro	rs1291771336	missense variant	-	NC_000013.11:g.24906068T>G	gnomAD
CENPJ	Q9HC77	p.Leu658Phe	rs558916225	missense variant	-	NC_000013.11:g.24906066G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.His659Asp	rs1055213067	missense variant	-	NC_000013.11:g.24906063G>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser663Ter	rs1350517141	stop gained	-	NC_000013.11:g.24906050G>T	gnomAD
CENPJ	Q9HC77	p.Ala664Thr	rs1259358902	missense variant	-	NC_000013.11:g.24906048C>T	gnomAD
CENPJ	Q9HC77	p.Asp665Tyr	rs1225690756	missense variant	-	NC_000013.11:g.24906045C>A	gnomAD
CENPJ	Q9HC77	p.Leu667Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24906037C>G	NCI-TCGA
CENPJ	Q9HC77	p.Lys673Gln	rs1255689965	missense variant	-	NC_000013.11:g.24906021T>G	TOPMed
CENPJ	Q9HC77	p.Ala677Val	rs751693894	missense variant	-	NC_000013.11:g.24906008G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Val678Phe	rs758633632	missense variant	-	NC_000013.11:g.24906006C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val678Ala	rs1328841092	missense variant	-	NC_000013.11:g.24906005A>G	gnomAD
CENPJ	Q9HC77	p.Val678Ile	rs758633632	missense variant	-	NC_000013.11:g.24906006C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln679Ter	rs765733124	stop gained	-	NC_000013.11:g.24906003G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu684Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905988C>G	NCI-TCGA
CENPJ	Q9HC77	p.Glu684Gly	rs753327055	missense variant	-	NC_000013.11:g.24905987T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asn690Ser	rs1470822906	missense variant	-	NC_000013.11:g.24905969T>C	gnomAD
CENPJ	Q9HC77	p.Arg692Leu	rs200890637	missense variant	-	NC_000013.11:g.24905963C>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg692His	rs200890637	missense variant	-	NC_000013.11:g.24905963C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg692Cys	rs576775053	missense variant	-	NC_000013.11:g.24905964G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp694Gly	rs1051334540	missense variant	-	NC_000013.11:g.24905957T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp694Glu	rs1193931355	missense variant	-	NC_000013.11:g.24905956A>C	gnomAD
CENPJ	Q9HC77	p.Gly696Asp	rs1466091603	missense variant	-	NC_000013.11:g.24905951C>T	TOPMed
CENPJ	Q9HC77	p.Val697Ile	rs772669085	missense variant	-	NC_000013.11:g.24905949C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro698Leu	rs921710804	missense variant	-	NC_000013.11:g.24905945G>A	TOPMed
CENPJ	Q9HC77	p.Asn699Ser	rs767354564	missense variant	-	NC_000013.11:g.24905942T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp701Val	rs1263444374	missense variant	-	NC_000013.11:g.24905936T>A	gnomAD
CENPJ	Q9HC77	p.Ser702Gly	rs774497576	missense variant	-	NC_000013.11:g.24905934T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser702Arg	rs774497576	missense variant	-	NC_000013.11:g.24905934T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr704Ile	rs768682361	missense variant	-	NC_000013.11:g.24905927G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr704Ile	RCV000358224	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24905927G>A	ClinVar
CENPJ	Q9HC77	p.Thr704Ile	RCV000265843	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24905927G>A	ClinVar
CENPJ	Q9HC77	p.Asp711Val	rs1213401971	missense variant	-	NC_000013.11:g.24905906T>A	TOPMed
CENPJ	Q9HC77	p.Val712Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905903A>G	NCI-TCGA
CENPJ	Q9HC77	p.Thr713Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905900G>A	NCI-TCGA
CENPJ	Q9HC77	p.Ile714Val	rs1272909899	missense variant	-	NC_000013.11:g.24905898T>C	TOPMed
CENPJ	Q9HC77	p.Pro716Leu	rs745993398	missense variant	-	NC_000013.11:g.24905891G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser717Leu	rs886050100	missense variant	-	NC_000013.11:g.24905888G>A	gnomAD
CENPJ	Q9HC77	p.Ser717Leu	RCV000267084	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24905888G>A	ClinVar
CENPJ	Q9HC77	p.Ser717Ter	rs886050100	stop gained	-	NC_000013.11:g.24905888G>T	gnomAD
CENPJ	Q9HC77	p.Ser717Leu	RCV000305812	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24905888G>A	ClinVar
CENPJ	Q9HC77	p.Glu719Lys	rs1335773770	missense variant	-	NC_000013.11:g.24905883C>T	gnomAD
CENPJ	Q9HC77	p.Asp720Val	rs777848667	missense variant	-	NC_000013.11:g.24905879T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp720Asn	rs747269150	missense variant	-	NC_000013.11:g.24905880C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg721Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905876C>G	NCI-TCGA
CENPJ	Q9HC77	p.Arg723Gly	rs989387440	missense variant	-	NC_000013.11:g.24905871T>C	TOPMed
CENPJ	Q9HC77	p.Arg723Lys	rs1278235618	missense variant	-	NC_000013.11:g.24905870C>T	TOPMed
CENPJ	Q9HC77	p.Arg723Ter	RCV000481467	frameshift	-	NC_000013.11:g.24905870_24905871CT[3]	ClinVar
CENPJ	Q9HC77	p.Arg723Gly	RCV000483220	missense variant	-	NC_000013.11:g.24905871T>C	ClinVar
CENPJ	Q9HC77	p.Ser726Arg	rs1475112602	missense variant	-	NC_000013.11:g.24905860G>C	gnomAD
CENPJ	Q9HC77	p.Ser727Arg	rs758868322	missense variant	-	NC_000013.11:g.24905859T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser727Ile	rs1185959416	missense variant	-	NC_000013.11:g.24905858C>A	gnomAD
CENPJ	Q9HC77	p.Arg728Thr	COSM6138892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24905855C>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg728Lys	rs748483261	missense variant	-	NC_000013.11:g.24905855C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp730His	rs200030350	missense variant	-	NC_000013.11:g.24905850C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp730Gly	rs1194630281	missense variant	-	NC_000013.11:g.24905849T>C	TOPMed
CENPJ	Q9HC77	p.Ser731Ile	rs1274654177	missense variant	-	NC_000013.11:g.24905846C>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser731Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905846C>G	NCI-TCGA
CENPJ	Q9HC77	p.Ser731Asn	rs1274654177	missense variant	-	NC_000013.11:g.24905846C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro732Thr	rs755495456	missense variant	-	NC_000013.11:g.24905844G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro732Ala	rs755495456	missense variant	-	NC_000013.11:g.24905844G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Val734Phe	rs754300468	missense variant	-	NC_000013.11:g.24905838C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val734Ile	rs754300468	missense variant	-	NC_000013.11:g.24905838C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp737Gly	RCV000145566	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24905828T>C	ClinVar
CENPJ	Q9HC77	p.Asp737Gly	rs587783408	missense variant	-	NC_000013.11:g.24905828T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly739Trp	COSM696910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24905823C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Gly739Arg	rs755517292	missense variant	-	NC_000013.11:g.24905823C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro740Ser	rs983379216	missense variant	-	NC_000013.11:g.24905820G>A	TOPMed
CENPJ	Q9HC77	p.Asp743Gly	rs767072676	missense variant	-	NC_000013.11:g.24905810T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp743Tyr	rs750146649	missense variant	-	NC_000013.11:g.24905811C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg745Lys	rs1247879701	missense variant	-	NC_000013.11:g.24905804C>T	gnomAD
CENPJ	Q9HC77	p.Lys750Gln	rs1329775342	missense variant	-	NC_000013.11:g.24905790T>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg751Gly	rs1196644150	missense variant	-	NC_000013.11:g.24905787T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg752Lys	rs1490059646	missense variant	-	NC_000013.11:g.24905783C>T	gnomAD
CENPJ	Q9HC77	p.Asp755Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905775C>T	NCI-TCGA
CENPJ	Q9HC77	p.Asp755Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905774T>G	NCI-TCGA
CENPJ	Q9HC77	p.Asp755Tyr	rs774264609	missense variant	-	NC_000013.11:g.24905775C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp757Ala	rs1429082796	missense variant	-	NC_000013.11:g.24905768T>G	TOPMed
CENPJ	Q9HC77	p.Leu758Phe	rs763943354	missense variant	-	NC_000013.11:g.24905764C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp760His	rs775235113	missense variant	-	NC_000013.11:g.24905760C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp762Glu	rs74701901	missense variant	-	NC_000013.11:g.24905752A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp766Asn	rs772264460	missense variant	-	NC_000013.11:g.24905742C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp766Glu	RCV000363604	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24905740A>T	ClinVar
CENPJ	Q9HC77	p.Asp766Glu	RCV000306526	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24905740A>T	ClinVar
CENPJ	Q9HC77	p.Asp766Tyr	rs772264460	missense variant	-	NC_000013.11:g.24905742C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp766Glu	rs79951875	missense variant	-	NC_000013.11:g.24905740A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile769Val	rs779276722	missense variant	-	NC_000013.11:g.24905733T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile769Phe	rs779276722	missense variant	-	NC_000013.11:g.24905733T>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile769Leu	COSM1366050	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24905733T>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ile769Thr	rs755264710	missense variant	-	NC_000013.11:g.24905732A>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Met770Leu	rs1360123393	missense variant	-	NC_000013.11:g.24905730T>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu771Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905727C>T	NCI-TCGA
CENPJ	Q9HC77	p.Ile773Thr	rs749806274	missense variant	-	NC_000013.11:g.24905720A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.His775Arg	rs1226454534	missense variant	-	NC_000013.11:g.24905714T>C	gnomAD
CENPJ	Q9HC77	p.Lys776Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905711T>G	NCI-TCGA
CENPJ	Q9HC77	p.Lys776Glu	rs780408543	missense variant	-	NC_000013.11:g.24905712T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val777Ala	rs755714584	missense variant	-	NC_000013.11:g.24905708A>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val777Leu	rs1345986355	missense variant	-	NC_000013.11:g.24905709C>G	gnomAD
CENPJ	Q9HC77	p.Ser781Trp	rs201828176	missense variant	-	NC_000013.11:g.24905696G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser781Leu	rs201828176	missense variant	-	NC_000013.11:g.24905696G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg782Ser	rs767248189	missense variant	-	NC_000013.11:g.24905692T>A	ExAC
CENPJ	Q9HC77	p.Arg782Gly	rs1409195287	missense variant	-	NC_000013.11:g.24905694T>C	gnomAD
CENPJ	Q9HC77	p.Ser783Cys	rs1453257897	missense variant	-	NC_000013.11:g.24905690G>C	TOPMed
CENPJ	Q9HC77	p.Ser784Thr	rs1158665245	missense variant	-	NC_000013.11:g.24905688A>T	TOPMed
CENPJ	Q9HC77	p.Ser785Pro	rs1409717267	missense variant	-	NC_000013.11:g.24905685A>G	TOPMed
CENPJ	Q9HC77	p.Ser785Phe	rs1472079071	missense variant	-	NC_000013.11:g.24905684G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys790Glu	rs1318102514	missense variant	-	NC_000013.11:g.24905670T>C	TOPMed
CENPJ	Q9HC77	p.Met791Thr	rs762830409	missense variant	-	NC_000013.11:g.24905666A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Met791Lys	rs762830409	missense variant	-	NC_000013.11:g.24905666A>T	ExAC,gnomAD
CENPJ	Q9HC77	p.del792Ter	rs1219286313	stop gained	-	NC_000013.11:g.24905664_24905665insTTA	gnomAD
CENPJ	Q9HC77	p.Asp792Gly	rs1318592375	missense variant	-	NC_000013.11:g.24905663T>C	gnomAD
CENPJ	Q9HC77	p.Asp792Asn	rs1403170716	missense variant	-	NC_000013.11:g.24905664C>T	gnomAD
CENPJ	Q9HC77	p.Asp794Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905658C>A	NCI-TCGA
CENPJ	Q9HC77	p.Asp795Gly	rs1284716144	missense variant	-	NC_000013.11:g.24905654T>C	gnomAD
CENPJ	Q9HC77	p.Glu796Gln	rs752749724	missense variant	-	NC_000013.11:g.24905652C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr798Ser	rs183331344	missense variant	-	NC_000013.11:g.24905646T>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Trp799Arg	rs1405701617	missense variant	-	NC_000013.11:g.24905643A>G	gnomAD
CENPJ	Q9HC77	p.Trp799Ter	rs1443806712	stop gained	-	NC_000013.11:g.24905641C>T	TOPMed
CENPJ	Q9HC77	p.Leu802Arg	rs772096836	missense variant	-	NC_000013.11:g.24905633A>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu803Asp	rs1433529106	missense variant	-	NC_000013.11:g.24905629T>A	gnomAD
CENPJ	Q9HC77	p.Glu804Asp	rs1346268435	missense variant	-	NC_000013.11:g.24905626C>A	gnomAD
CENPJ	Q9HC77	p.Asn805Ser	rs762023190	missense variant	-	NC_000013.11:g.24905624T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asn808Asp	rs1409383592	missense variant	-	NC_000013.11:g.24905616T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.His809Arg	rs769063412	missense variant	-	NC_000013.11:g.24905612T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp810Val	rs1021045841	missense variant	-	NC_000013.11:g.24905609T>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp810Tyr	rs749610908	missense variant	-	NC_000013.11:g.24905610C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp810Gly	rs1021045841	missense variant	-	NC_000013.11:g.24905609T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp810Val	RCV000497935	missense variant	-	NC_000013.11:g.24905609T>A	ClinVar
CENPJ	Q9HC77	p.Val811Asp	RCV000765127	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24905606A>T	ClinVar
CENPJ	Q9HC77	p.Val811Asp	RCV000512806	missense variant	-	NC_000013.11:g.24905606A>T	ClinVar
CENPJ	Q9HC77	p.Val811Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905606A>G	NCI-TCGA
CENPJ	Q9HC77	p.Val811Asp	rs151299406	missense variant	-	NC_000013.11:g.24905606A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val812Ala	rs888445577	missense variant	-	NC_000013.11:g.24905603A>G	TOPMed
CENPJ	Q9HC77	p.Leu813Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905601G>T	NCI-TCGA
CENPJ	Q9HC77	p.Gly814Glu	rs1414892924	missense variant	-	NC_000013.11:g.24905597C>T	gnomAD
CENPJ	Q9HC77	p.Thr818Ile	rs370900407	missense variant	-	NC_000013.11:g.24905585G>A	ESP,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr818Ala	rs1242595381	missense variant	-	NC_000013.11:g.24905586T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr819Ter	rs749518656	stop gained	-	NC_000013.11:g.24905582dup	ExAC,TOPMed
CENPJ	Q9HC77	p.Tyr819Cys	rs746336531	missense variant	-	NC_000013.11:g.24905582T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr821Met	rs144938364	missense variant	-	NC_000013.11:g.24905576G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr821Met	RCV000023763	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24905576G>A	ClinVar
CENPJ	Q9HC77	p.Pro822Leu	rs777565498	missense variant	-	NC_000013.11:g.24905573G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr824Ser	RCV000145567	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24905568T>A	ClinVar
CENPJ	Q9HC77	p.Thr824Ser	rs149885751	missense variant	-	NC_000013.11:g.24905568T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr824Ser	RCV000407643	missense variant	-	NC_000013.11:g.24905568T>A	ClinVar
CENPJ	Q9HC77	p.Cys825Tyr	rs765036659	missense variant	-	NC_000013.11:g.24905564C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro827Ser	rs1394398826	missense variant	-	NC_000013.11:g.24905559G>A	TOPMed
CENPJ	Q9HC77	p.Asn829Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905552T>G	NCI-TCGA
CENPJ	Q9HC77	p.Ile831Leu	COSM3467938	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24905547T>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ile831Thr	rs759426700	missense variant	-	NC_000013.11:g.24905546A>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile831Met	rs945196362	missense variant	-	NC_000013.11:g.24905545T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile831Val	rs1433433164	missense variant	-	NC_000013.11:g.24905547T>C	gnomAD
CENPJ	Q9HC77	p.Ile833Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905540A>C	NCI-TCGA
CENPJ	Q9HC77	p.Ile833Val	rs1240659738	missense variant	-	NC_000013.11:g.24905541T>C	gnomAD
CENPJ	Q9HC77	p.Asp835Glu	rs1173390065	missense variant	-	NC_000013.11:g.24905533G>T	gnomAD
CENPJ	Q9HC77	p.Lys836Arg	rs373526063	missense variant	-	NC_000013.11:g.24905531T>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr837Ala	rs761865732	missense variant	-	NC_000013.11:g.24905529T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Ile838Val	rs989356433	missense variant	-	NC_000013.11:g.24905526T>C	TOPMed
CENPJ	Q9HC77	p.Ile838Met	rs774619048	missense variant	-	NC_000013.11:g.24905524T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys841Glu	rs1447523757	missense variant	-	NC_000013.11:g.24905517T>C	gnomAD
CENPJ	Q9HC77	p.Pro844Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905508G>A	NCI-TCGA
CENPJ	Q9HC77	p.Val845Phe	rs370414411	missense variant	-	NC_000013.11:g.24905505C>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val845Ile	rs370414411	missense variant	-	NC_000013.11:g.24905505C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val845Leu	rs370414411	missense variant	-	NC_000013.11:g.24905505C>G	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys846Asn	rs763422675	missense variant	-	NC_000013.11:g.24905500C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg847Gly	rs775740248	missense variant	-	NC_000013.11:g.24905499T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly848Glu	rs770154338	missense variant	-	NC_000013.11:g.24905495C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp850His	rs1226852443	missense variant	-	NC_000013.11:g.24905490C>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser852Arg	rs552484847	missense variant	-	NC_000013.11:g.24905482G>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg855Thr	COSM3968579	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24905474C>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg855Gly	rs746489468	missense variant	-	NC_000013.11:g.24905475T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg856Ser	rs1257799655	missense variant	-	NC_000013.11:g.24905470C>A	TOPMed
CENPJ	Q9HC77	p.Arg856Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905471C>T	NCI-TCGA
CENPJ	Q9HC77	p.Arg856Gly	rs1180717516	missense variant	-	NC_000013.11:g.24905472T>C	TOPMed
CENPJ	Q9HC77	p.Ser857Arg	rs78628025	missense variant	-	NC_000013.11:g.24905467G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser857Asn	rs532658343	missense variant	-	NC_000013.11:g.24905468C>T	1000Genomes,gnomAD
CENPJ	Q9HC77	p.Ser857Arg	RCV000399339	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24905467G>C	ClinVar
CENPJ	Q9HC77	p.Ser857Arg	RCV000312222	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24905467G>C	ClinVar
CENPJ	Q9HC77	p.Arg858Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24905465C>A	NCI-TCGA
CENPJ	Q9HC77	p.Pro860Arg	rs758014129	missense variant	-	NC_000013.11:g.24905459G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro861Ser	rs1354630304	missense variant	-	NC_000013.11:g.24905457G>A	gnomAD
CENPJ	Q9HC77	p.Thr862Ala	rs1186291987	missense variant	-	NC_000013.11:g.24905454T>C	TOPMed
CENPJ	Q9HC77	p.Ser863Leu	rs1386982247	missense variant	-	NC_000013.11:g.24905450G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Met867Ile	rs1254416735	missense variant	-	NC_000013.11:g.24905437C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Phe869Leu	rs1481048921	missense variant	-	NC_000013.11:g.24905431G>T	gnomAD
CENPJ	Q9HC77	p.Pro871Thr	rs751614921	missense variant	-	NC_000013.11:g.24905427G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro871His	rs1007385429	missense variant	-	NC_000013.11:g.24905426G>T	gnomAD
CENPJ	Q9HC77	p.Pro871Leu	rs1007385429	missense variant	-	NC_000013.11:g.24905426G>A	gnomAD
CENPJ	Q9HC77	p.Ser872Pro	rs1362268371	missense variant	-	NC_000013.11:g.24905424A>G	gnomAD
CENPJ	Q9HC77	p.Ser872Cys	rs142874524	missense variant	-	NC_000013.11:g.24905423G>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys874Arg	rs1339069191	missense variant	-	NC_000013.11:g.24905417T>C	gnomAD
CENPJ	Q9HC77	p.Lys874Arg	RCV000733588	missense variant	-	NC_000013.11:g.24905417T>C	ClinVar
CENPJ	Q9HC77	p.Lys876Arg	rs1015803966	missense variant	-	NC_000013.11:g.24905411T>C	gnomAD
CENPJ	Q9HC77	p.Lys876Glu	rs201209381	missense variant	-	NC_000013.11:g.24905412T>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro877Arg	rs765578695	missense variant	-	NC_000013.11:g.24905408G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro877Leu	rs765578695	missense variant	-	NC_000013.11:g.24905408G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys878Asn	rs139466528	missense variant	-	NC_000013.11:g.24905404C>G	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser879Ala	rs17402892	missense variant	-	NC_000013.11:g.24905403A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser879Ala	RCV000294504	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24905403A>C	ClinVar
CENPJ	Q9HC77	p.Ser879Ala	RCV000351785	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24905403A>C	ClinVar
CENPJ	Q9HC77	p.His882Pro	rs771546461	missense variant	-	NC_000013.11:g.24905393T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Leu883Trp	rs747472465	missense variant	-	NC_000013.11:g.24905390A>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu883Ser	rs747472465	missense variant	-	NC_000013.11:g.24905390A>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly884GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24905387C>-	NCI-TCGA
CENPJ	Q9HC77	p.Asn885Ser	rs772884074	missense variant	-	NC_000013.11:g.24905384T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu886Ter	rs771548094	stop gained	-	NC_000013.11:g.24905382C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys888Arg	rs1160955098	missense variant	-	NC_000013.11:g.24905375T>C	gnomAD
CENPJ	Q9HC77	p.Asn890Ser	rs1194740975	missense variant	-	NC_000013.11:g.24905369T>C	TOPMed
CENPJ	Q9HC77	p.Ile891Val	rs747765839	missense variant	-	NC_000013.11:g.24905367T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser892Gly	rs778610725	missense variant	-	NC_000013.11:g.24905364T>C	ExAC
CENPJ	Q9HC77	p.Gln893Pro	rs41306029	missense variant	-	NC_000013.11:g.24905360T>G	-
CENPJ	Q9HC77	p.Gln893Pro	RCV000020852	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24905360T>G	ClinVar
CENPJ	Q9HC77	p.Gln895Arg	rs1002585269	missense variant	-	NC_000013.11:g.24905354T>C	gnomAD
CENPJ	Q9HC77	p.Pro897Ser	rs541140338	missense variant	-	NC_000013.11:g.24905349G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly898Ser	rs201436676	missense variant	-	NC_000013.11:g.24905346C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn900Asp	rs748888098	missense variant	-	NC_000013.11:g.24904053T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Ala901Thr	rs779855097	missense variant	-	NC_000013.11:g.24904050C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg902Pro	rs941556834	missense variant	-	NC_000013.11:g.24904046C>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg902Gln	rs941556834	missense variant	-	NC_000013.11:g.24904046C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg902Ter	rs374057641	stop gained	-	NC_000013.11:g.24904047G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg902Ter	RCV000778389	nonsense	CENPJ-Related Disorders	NC_000013.11:g.24904047G>A	ClinVar
CENPJ	Q9HC77	p.Gln904His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24904039C>G	NCI-TCGA
CENPJ	Q9HC77	p.Gln904Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24904041G>A	NCI-TCGA
CENPJ	Q9HC77	p.Val905Leu	rs1254943876	missense variant	-	NC_000013.11:g.24904038C>G	TOPMed
CENPJ	Q9HC77	p.Leu906Ter	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24904034A>-	NCI-TCGA
CENPJ	Q9HC77	p.Lys909Ile	rs1198422061	missense variant	-	NC_000013.11:g.24904025T>A	TOPMed
CENPJ	Q9HC77	p.Glu916Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24904005C>A	NCI-TCGA
CENPJ	Q9HC77	p.Lys919Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24903995T>G	NCI-TCGA
CENPJ	Q9HC77	p.Ala922Gly	COSM3467936	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24903986G>C	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ala922Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24903986G>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu923Val	rs781186162	missense variant	-	NC_000013.11:g.24903983T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ala925Ser	rs371350350	missense variant	-	NC_000013.11:g.24903978C>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala925Thr	rs371350350	missense variant	-	NC_000013.11:g.24903978C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser926Tyr	rs755285990	missense variant	-	NC_000013.11:g.24903974G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser926Thr	rs1326050982	missense variant	-	NC_000013.11:g.24903975A>T	TOPMed
CENPJ	Q9HC77	p.Ala928Thr	rs747930436	missense variant	-	NC_000013.11:g.24903969C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala928Gly	rs766867542	missense variant	-	NC_000013.11:g.24903968G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Lys929Glu	rs141844033	missense variant	-	NC_000013.11:g.24903966T>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys929Glu	RCV000394810	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24903966T>C	ClinVar
CENPJ	Q9HC77	p.Lys929Glu	RCV000334398	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24903966T>C	ClinVar
CENPJ	Q9HC77	p.Arg931Leu	rs751033744	missense variant	-	NC_000013.11:g.24903959C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg931His	rs751033744	missense variant	-	NC_000013.11:g.24903959C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg931Cys	rs199749446	missense variant	-	NC_000013.11:g.24903960G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg931Cys	rs199749446	missense variant	-	NC_000013.11:g.24903960G>A	NCI-TCGA
CENPJ	Q9HC77	p.Ile932Val	rs768033722	missense variant	-	NC_000013.11:g.24903957T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg934Gln	rs755020623	missense variant	-	NC_000013.11:g.24903950C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg934Ter	rs761276069	stop gained	-	NC_000013.11:g.24903951G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser936Gly	rs75008861	missense variant	-	NC_000013.11:g.24903945T>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser936Gly	RCV000374650	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24903945T>C	ClinVar
CENPJ	Q9HC77	p.Ser936Gly	RCV000282639	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24903945T>C	ClinVar
CENPJ	Q9HC77	p.Ala937Val	COSM4046698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24903941G>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ala937Thr	rs1295182016	missense variant	-	NC_000013.11:g.24903942C>T	gnomAD
CENPJ	Q9HC77	p.Leu938Phe	rs762597160	missense variant	-	NC_000013.11:g.24903937C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Leu938Trp	rs1275201442	missense variant	-	NC_000013.11:g.24903938A>C	TOPMed
CENPJ	Q9HC77	p.Glu939Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24903936C>G	NCI-TCGA
CENPJ	Q9HC77	p.Lys940Asn	rs775064623	missense variant	-	NC_000013.11:g.24903931T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg942Ser	COSM3793211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24899584C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu944Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24899580C>T	NCI-TCGA
CENPJ	Q9HC77	p.Ile945Val	rs1369308067	missense variant	-	NC_000013.11:g.24899577T>C	gnomAD
CENPJ	Q9HC77	p.Ala946Ser	rs1166009946	missense variant	-	NC_000013.11:g.24899574C>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala946Val	rs1406388908	missense variant	-	NC_000013.11:g.24899573G>A	gnomAD
CENPJ	Q9HC77	p.Asp947Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24899571C>A	NCI-TCGA
CENPJ	Q9HC77	p.Asp947Glu	rs555953765	missense variant	-	NC_000013.11:g.24899569G>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Phe948Leu	rs746983041	missense variant	-	NC_000013.11:g.24899568A>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu949Lys	rs148731718	missense variant	-	NC_000013.11:g.24899565C>T	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu949Gln	rs148731718	missense variant	-	NC_000013.11:g.24899565C>G	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln951Arg	RCV000280271	missense variant	-	NC_000013.11:g.24899558T>C	ClinVar
CENPJ	Q9HC77	p.Gln951His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24899557C>G	NCI-TCGA
CENPJ	Q9HC77	p.Gln951Arg	rs138675304	missense variant	-	NC_000013.11:g.24899558T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln951Glu	rs1182349860	missense variant	-	NC_000013.11:g.24899559G>C	gnomAD
CENPJ	Q9HC77	p.Lys954Gln	rs372756301	missense variant	-	NC_000013.11:g.24899550T>G	ESP,TOPMed
CENPJ	Q9HC77	p.Glu955Gln	rs1053431940	missense variant	-	NC_000013.11:g.24899547C>G	TOPMed
CENPJ	Q9HC77	p.Glu955Ter	rs1053431940	stop gained	-	NC_000013.11:g.24899547C>A	TOPMed
CENPJ	Q9HC77	p.Glu955Ter	rs1053431940	stop gained	-	NC_000013.11:g.24899547C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ala957Val	rs1248899140	missense variant	-	NC_000013.11:g.24899540G>A	gnomAD
CENPJ	Q9HC77	p.Ala957Thr	COSM4046697	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24899541C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg958Ter	rs749343808	stop gained	-	NC_000013.11:g.24899538G>A	NCI-TCGA,NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg958Ter	rs749343808	stop gained	-	NC_000013.11:g.24899538G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg958Gly	rs749343808	missense variant	-	NC_000013.11:g.24899538G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg958Gln	rs1452062416	missense variant	-	NC_000013.11:g.24899537C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg958Ter	RCV000497511	nonsense	-	NC_000013.11:g.24899538G>A	ClinVar
CENPJ	Q9HC77	p.Arg958Gln	rs1452062416	missense variant	-	NC_000013.11:g.24899537C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ile959Thr	rs1226366057	missense variant	-	NC_000013.11:g.24899534A>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile959Val	rs1288916650	missense variant	-	NC_000013.11:g.24899535T>C	gnomAD
CENPJ	Q9HC77	p.Ile959Met	rs368448138	missense variant	-	NC_000013.11:g.24899533T>C	ESP,ExAC,gnomAD
CENPJ	Q9HC77	p.Glu960Gly	rs756424236	missense variant	-	NC_000013.11:g.24899531T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu960Asp	rs746035130	missense variant	-	NC_000013.11:g.24899530T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu961ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24899528_24899529insA	NCI-TCGA
CENPJ	Q9HC77	p.Glu961Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24899529C>T	NCI-TCGA
CENPJ	Q9HC77	p.Glu961ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24899529_24899530insT	NCI-TCGA
CENPJ	Q9HC77	p.Phe962Leu	rs1480767885	missense variant	-	NC_000013.11:g.24899524A>C	TOPMed
CENPJ	Q9HC77	p.Lys963Glu	rs781621791	missense variant	-	NC_000013.11:g.24899523T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu965Lys	rs757505034	missense variant	-	NC_000013.11:g.24899517C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu966Lys	rs752166766	missense variant	-	NC_000013.11:g.24899514C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Met967Val	rs764554156	missense variant	-	NC_000013.11:g.24899511T>C	ExAC
CENPJ	Q9HC77	p.Met967Ile	rs757953924	missense variant	-	NC_000013.11:g.24899509C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Met967Leu	rs764554156	missense variant	-	NC_000013.11:g.24899511T>A	ExAC
CENPJ	Q9HC77	p.Arg974Cys	rs764688685	missense variant	-	NC_000013.11:g.24899490G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg974His	rs759234098	missense variant	-	NC_000013.11:g.24899489C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg974Pro	rs759234098	missense variant	-	NC_000013.11:g.24899489C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg974Gly	rs764688685	missense variant	-	NC_000013.11:g.24899490G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys975Thr	rs776092277	missense variant	-	NC_000013.11:g.24899486T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu978Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24899478C>T	NCI-TCGA
CENPJ	Q9HC77	p.Thr982Ala	rs766258888	missense variant	-	NC_000013.11:g.24899466T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr982Ala	RCV000192746	missense variant	-	NC_000013.11:g.24899466T>C	ClinVar
CENPJ	Q9HC77	p.Ala984Val	rs773237310	missense variant	-	NC_000013.11:g.24899459G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ala984Pro	rs1302016312	missense variant	-	NC_000013.11:g.24899460C>G	TOPMed
CENPJ	Q9HC77	p.Arg985Gly	rs1401756156	missense variant	-	NC_000013.11:g.24899457T>C	TOPMed
CENPJ	Q9HC77	p.Arg985Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24899456C>A	NCI-TCGA
CENPJ	Q9HC77	p.Pro988Ser	rs150134807	missense variant	-	NC_000013.11:g.24899448G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu992GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24899437_24899438insT	NCI-TCGA
CENPJ	Q9HC77	p.Arg993Pro	rs375262924	missense variant	-	NC_000013.11:g.24899432C>G	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg993His	rs375262924	missense variant	-	NC_000013.11:g.24899432C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg993Cys	rs141752731	missense variant	-	NC_000013.11:g.24899433G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile996Thr	rs971313962	missense variant	-	NC_000013.11:g.24899423A>G	TOPMed
CENPJ	Q9HC77	p.Gln997Lys	rs1327275788	missense variant	-	NC_000013.11:g.24899421G>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr998Ser	rs778117250	missense variant	-	NC_000013.11:g.24892867T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr998Ala	rs778117250	missense variant	-	NC_000013.11:g.24892867T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr998Ile	rs772367053	missense variant	-	NC_000013.11:g.24892866G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys1000Arg	rs377571847	missense variant	-	NC_000013.11:g.24892860T>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys1000Ile	rs377571847	missense variant	-	NC_000013.11:g.24892860T>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln1001Ter	rs200583239	stop gained	-	NC_000013.11:g.24892858G>A	1000Genomes,gnomAD
CENPJ	Q9HC77	p.Gln1001Lys	rs200583239	missense variant	-	NC_000013.11:g.24892858G>T	1000Genomes,gnomAD
CENPJ	Q9HC77	p.Gln1001Glu	rs200583239	missense variant	-	NC_000013.11:g.24892858G>C	1000Genomes,gnomAD
CENPJ	Q9HC77	p.Gln1002Lys	RCV000735168	missense variant	-	NC_000013.11:g.24892855_24892856delinsTT	ClinVar
CENPJ	Q9HC77	p.Ile1003Ter	RCV000194172	frameshift	Seckel syndrome 4 (SCKL4)	NC_000013.11:g.24892854dup	ClinVar
CENPJ	Q9HC77	p.Arg1007Trp	rs568294978	missense variant	-	NC_000013.11:g.24892840G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1007Trp	RCV000398214	missense variant	-	NC_000013.11:g.24892840G>A	ClinVar
CENPJ	Q9HC77	p.Arg1007Gln	rs1313804167	missense variant	-	NC_000013.11:g.24892839C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp1009Glu	COSM469273	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24892832A>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Lys1011LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24892828_24892829insTTTTTTTTTGAGAGACTTTAAAACAG	NCI-TCGA
CENPJ	Q9HC77	p.Arg1012Gly	rs750027474	missense variant	-	NC_000013.11:g.24892825T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Lys1013Arg	rs767431723	missense variant	-	NC_000013.11:g.24892821T>C	ExAC
CENPJ	Q9HC77	p.Lys1013Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24892821T>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu1014Asp	rs3742165	missense variant	-	NC_000013.11:g.24892817T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr1015Ile	rs751614382	missense variant	-	NC_000013.11:g.24892815G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Ser1018Ala	rs1371164883	missense variant	-	NC_000013.11:g.24892807A>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser1019Gly	rs1167892671	missense variant	-	NC_000013.11:g.24892804T>C	gnomAD
CENPJ	Q9HC77	p.His1021Arg	COSM946235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24892797T>C	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg1023His	rs146950242	missense variant	-	NC_000013.11:g.24892791C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1023Cys	rs1165168883	missense variant	-	NC_000013.11:g.24892792G>A	gnomAD
CENPJ	Q9HC77	p.Arg1023Leu	rs146950242	missense variant	-	NC_000013.11:g.24892791C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1023His	RCV000284181	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24892791C>T	ClinVar
CENPJ	Q9HC77	p.Arg1023His	RCV000336835	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24892791C>T	ClinVar
CENPJ	Q9HC77	p.Leu1024Phe	rs1184509246	missense variant	-	NC_000013.11:g.24892789G>A	gnomAD
CENPJ	Q9HC77	p.Arg1025Lys	rs1483419950	missense variant	-	NC_000013.11:g.24892785C>T	gnomAD
CENPJ	Q9HC77	p.Ser1026Asn	rs1251085590	missense variant	-	NC_000013.11:g.24892782C>T	gnomAD
CENPJ	Q9HC77	p.Gln1027Arg	rs141237492	missense variant	-	NC_000013.11:g.24892779T>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln1027Ter	rs1266660632	stop gained	-	NC_000013.11:g.24892780G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile1028Met	rs1266433466	missense variant	-	NC_000013.11:g.24892775T>C	gnomAD
CENPJ	Q9HC77	p.Ile1028Val	rs773405941	missense variant	-	NC_000013.11:g.24892777T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Gln1029Glu	rs1244476467	missense variant	-	NC_000013.11:g.24892774G>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Met1030Ile	rs772488539	missense variant	-	NC_000013.11:g.24892769C>T	ExAC
CENPJ	Q9HC77	p.Leu1031Ter	rs779449762	stop gained	-	NC_000013.11:g.24892767A>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Leu1031Ser	rs779449762	missense variant	-	NC_000013.11:g.24892767A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Asn1035Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24892755T>C	NCI-TCGA
CENPJ	Q9HC77	p.Leu1038Phe	rs1229782793	missense variant	-	NC_000013.11:g.24892747G>A	gnomAD
CENPJ	Q9HC77	p.Arg1039Pro	rs552497925	missense variant	-	NC_000013.11:g.24892743C>G	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1039Trp	rs749766620	missense variant	-	NC_000013.11:g.24892744G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1039Gln	rs552497925	missense variant	-	NC_000013.11:g.24892743C>T	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1040Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24892741C>T	NCI-TCGA
CENPJ	Q9HC77	p.Glu1041Gln	COSM696911	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24892738C>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ile1042Val	rs1392755614	missense variant	-	NC_000013.11:g.24892735T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile1042Leu	rs1392755614	missense variant	-	NC_000013.11:g.24892735T>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys1043Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24892732T>C	NCI-TCGA
CENPJ	Q9HC77	p.Lys1043Arg	rs750160134	missense variant	-	NC_000013.11:g.24892731T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1046Ter	rs375073424	stop gained	-	NC_000013.11:g.24892723C>A	ESP
CENPJ	Q9HC77	p.Arg1047Thr	COSM696912	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24892719C>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg1047Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24892719C>A	NCI-TCGA
CENPJ	Q9HC77	p.Arg1049Ter	rs757159265	stop gained	-	NC_000013.11:g.24892714G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1049Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24892713C>T	NCI-TCGA
CENPJ	Q9HC77	p.Trp1053Cys	rs751422006	missense variant	-	NC_000013.11:g.24892700C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Trp1053Ter	rs751422006	stop gained	-	NC_000013.11:g.24892700C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys1054Asn	rs763908321	missense variant	-	NC_000013.11:g.24892697C>A	ExAC
CENPJ	Q9HC77	p.Arg1055Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24892696T>A	NCI-TCGA
CENPJ	Q9HC77	p.Ala1056Glu	rs762802522	missense variant	-	NC_000013.11:g.24892692G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu1057Lys	rs752620671	missense variant	-	NC_000013.11:g.24892690C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Ile1059Met	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24892682T>C	NCI-TCGA
CENPJ	Q9HC77	p.Ile1059Thr	rs1263676296	missense variant	-	NC_000013.11:g.24892683A>G	TOPMed
CENPJ	Q9HC77	p.Glu1060Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24892681C>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu1064Lys	rs773458980	missense variant	-	NC_000013.11:g.24892669C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu1066Ter	COSM4917869	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.24892663C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Lys1067Glu	rs772256266	missense variant	-	NC_000013.11:g.24892660T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys1068Glu	rs761978205	missense variant	-	NC_000013.11:g.24892657T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys1068Asn	rs774613587	missense variant	-	NC_000013.11:g.24892655C>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu1071Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24892648G>T	NCI-TCGA
CENPJ	Q9HC77	p.Leu1071Pro	rs1287205271	missense variant	-	NC_000013.11:g.24892647A>G	gnomAD
CENPJ	Q9HC77	p.Ala1072Val	rs769000518	missense variant	-	NC_000013.11:g.24892644G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala1072Val	RCV000485858	missense variant	-	NC_000013.11:g.24892644G>A	ClinVar
CENPJ	Q9HC77	p.Ser1075Ala	rs1392548690	missense variant	-	NC_000013.11:g.24889394A>C	gnomAD
CENPJ	Q9HC77	p.Ser1075Pro	COSM1366048	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24889394A>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Val1076Leu	rs1169693102	missense variant	-	NC_000013.11:g.24889391C>G	gnomAD
CENPJ	Q9HC77	p.Arg1077Gln	rs775902128	missense variant	-	NC_000013.11:g.24889387C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg1077Ter	rs763373509	stop gained	-	NC_000013.11:g.24889388G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Gln1079Glu	rs914789361	missense variant	-	NC_000013.11:g.24889382G>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln1079Pro	rs1364352463	missense variant	-	NC_000013.11:g.24889381T>G	TOPMed
CENPJ	Q9HC77	p.Gln1079Arg	rs1364352463	missense variant	-	NC_000013.11:g.24889381T>C	TOPMed
CENPJ	Q9HC77	p.Ser1081Ter	RCV000001892	frameshift	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24889374_24889377del	ClinVar
CENPJ	Q9HC77	p.Ser1084Tyr	rs1199358153	missense variant	-	NC_000013.11:g.24889366G>T	gnomAD
CENPJ	Q9HC77	p.Ser1085Leu	rs1345702959	missense variant	-	NC_000013.11:g.24889363G>A	gnomAD
CENPJ	Q9HC77	p.Thr1087Ser	rs1427330583	missense variant	-	NC_000013.11:g.24889357G>C	gnomAD
CENPJ	Q9HC77	p.Lys1091Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24889345T>G	NCI-TCGA
CENPJ	Q9HC77	p.Tyr1092Phe	rs1450503542	missense variant	-	NC_000013.11:g.24889342T>A	gnomAD
CENPJ	Q9HC77	p.Tyr1092Ter	rs747494411	stop gained	-	NC_000013.11:g.24889342dup	ExAC
CENPJ	Q9HC77	p.Tyr1092His	rs776285097	missense variant	-	NC_000013.11:g.24889343A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Lys1094Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24889336T>A	NCI-TCGA
CENPJ	Q9HC77	p.Asn1095Ser	rs770506371	missense variant	-	NC_000013.11:g.24889333T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asn1095IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24889333T>-	NCI-TCGA
CENPJ	Q9HC77	p.Tyr1096Cys	rs556953003	missense variant	-	NC_000013.11:g.24889330T>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr1096Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24889330T>A	NCI-TCGA
CENPJ	Q9HC77	p.Leu1097Pro	rs1488584567	missense variant	-	NC_000013.11:g.24889327A>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Met1099Val	rs777475321	missense variant	-	NC_000013.11:g.24889322T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Gln1100Arg	rs758165385	missense variant	-	NC_000013.11:g.24889318T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Asn1102Ser	RCV000658291	missense variant	-	NC_000013.11:g.24885667T>C	ClinVar
CENPJ	Q9HC77	p.Asn1102Ser	rs41300592	missense variant	-	NC_000013.11:g.24885667T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1104Ser	rs766967643	missense variant	-	NC_000013.11:g.24885662G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1104Ter	RCV000494561	frameshift	-	NC_000013.11:g.24885663dup	ClinVar
CENPJ	Q9HC77	p.Pro1104Thr	rs766967643	missense variant	-	NC_000013.11:g.24885662G>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1105Ter	rs761034946	stop gained	-	NC_000013.11:g.24885659G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg1105Gln	rs1399575372	missense variant	-	NC_000013.11:g.24885658C>T	TOPMed
CENPJ	Q9HC77	p.Ser1107Pro	rs772806667	missense variant	-	NC_000013.11:g.24885653A>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser1107Pro	RCV000593862	missense variant	-	NC_000013.11:g.24885653A>G	ClinVar
CENPJ	Q9HC77	p.Lys1108Glu	rs1221752366	missense variant	-	NC_000013.11:g.24885650T>C	TOPMed
CENPJ	Q9HC77	p.Ser1109Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24885646G>T	NCI-TCGA
CENPJ	Q9HC77	p.Ala1110Thr	rs771421031	missense variant	-	NC_000013.11:g.24885644C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg1113His	rs202013798	missense variant	-	NC_000013.11:g.24885634C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1113Cys	rs1169448275	missense variant	-	NC_000013.11:g.24885635G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu1115Ile	rs1269136865	missense variant	-	NC_000013.11:g.24885629A>T	TOPMed
CENPJ	Q9HC77	p.Leu1115Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24885629A>C	NCI-TCGA
CENPJ	Q9HC77	p.Leu1115Ter	rs1481240362	stop gained	-	NC_000013.11:g.24885628A>T	TOPMed
CENPJ	Q9HC77	p.Gly1116Asp	rs1376602614	missense variant	-	NC_000013.11:g.24885625C>T	TOPMed
CENPJ	Q9HC77	p.Asn1117Ser	rs768507623	missense variant	-	NC_000013.11:g.24885622T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asn1117Asp	rs1470768505	missense variant	-	NC_000013.11:g.24885623T>C	TOPMed
CENPJ	Q9HC77	p.Asp1119Asn	rs924920547	missense variant	-	NC_000013.11:g.24885617C>T	TOPMed
CENPJ	Q9HC77	p.Asp1119Gly	rs1182589874	missense variant	-	NC_000013.11:g.24885616T>C	gnomAD
CENPJ	Q9HC77	p.Lys1120Glu	rs749053360	missense variant	-	NC_000013.11:g.24885614T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly1121Arg	rs1419479902	missense variant	-	NC_000013.11:g.24885611C>G	TOPMed
CENPJ	Q9HC77	p.Ala1123Val	rs369056721	missense variant	-	NC_000013.11:g.24885385G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala1124Gly	rs745876344	missense variant	-	NC_000013.11:g.24885382G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Ala1124Pro	rs769417624	missense variant	-	NC_000013.11:g.24885383C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro1126Ser	COSM3885136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24885377G>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Arg1127Lys	rs1326292638	missense variant	-	NC_000013.11:g.24885373C>T	gnomAD
CENPJ	Q9HC77	p.Arg1127Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24885372C>A	NCI-TCGA
CENPJ	Q9HC77	p.Leu1130Arg	rs776426713	missense variant	-	NC_000013.11:g.24885364A>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Leu1130Pro	rs776426713	missense variant	-	NC_000013.11:g.24885364A>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1132Ser	rs1430471118	missense variant	-	NC_000013.11:g.24885359G>A	TOPMed
CENPJ	Q9HC77	p.Phe1135Val	rs1457828880	missense variant	-	NC_000013.11:g.24885350A>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp1137Glu	rs772232743	missense variant	-	NC_000013.11:g.24885342A>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro1138Ala	rs1182135241	missense variant	-	NC_000013.11:g.24885341G>C	gnomAD
CENPJ	Q9HC77	p.Pro1138Leu	rs748214176	missense variant	-	NC_000013.11:g.24885340G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1138Ser	COSM2069363	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24885341G>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu1139Gln	rs755278009	missense variant	-	NC_000013.11:g.24885338C>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1139Ter	rs755278009	stop gained	-	NC_000013.11:g.24885338C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1139Asp	rs960794683	missense variant	-	NC_000013.11:g.24885336T>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1142Gly	rs1464520478	missense variant	-	NC_000013.11:g.24885328T>C	TOPMed
CENPJ	Q9HC77	p.Glu1142Lys	rs182528406	missense variant	-	NC_000013.11:g.24885329C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1145Lys	rs1302004099	missense variant	-	NC_000013.11:g.24885320C>T	TOPMed
CENPJ	Q9HC77	p.Gln1147Arg	rs1385434008	missense variant	-	NC_000013.11:g.24885313T>C	TOPMed
CENPJ	Q9HC77	p.Asp1148His	rs1383498907	missense variant	-	NC_000013.11:g.24885311C>G	TOPMed
CENPJ	Q9HC77	p.Asp1148His	RCV000732363	missense variant	-	NC_000013.11:g.24885311C>G	ClinVar
CENPJ	Q9HC77	p.Ile1149Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24885308T>G	NCI-TCGA
CENPJ	Q9HC77	p.Ile1149Lys	rs191359185	missense variant	-	NC_000013.11:g.24885307A>T	1000Genomes
CENPJ	Q9HC77	p.Gln1150Ter	rs587783410	stop gained	-	NC_000013.11:g.24885305G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln1150Ter	RCV000145577	nonsense	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24885305G>A	ClinVar
CENPJ	Q9HC77	p.Gln1150Glu	rs587783410	missense variant	-	NC_000013.11:g.24885305G>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln1150His	rs1339504787	missense variant	-	NC_000013.11:g.24885303C>G	TOPMed
CENPJ	Q9HC77	p.Gly1151Arg	rs374303805	missense variant	-	NC_000013.11:g.24885302C>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser1154Thr	rs1303937419	missense variant	-	NC_000013.11:g.24885292C>G	gnomAD
CENPJ	Q9HC77	p.Ser1154Cys	COSM4935927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24885293T>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Pro1156Ala	rs200958789	missense variant	-	NC_000013.11:g.24885287G>C	1000Genomes,ExAC,gnomAD
CENPJ	Q9HC77	p.Asp1157Asn	rs968173175	missense variant	-	NC_000013.11:g.24885284C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys1159Thr	rs1322808121	missense variant	-	NC_000013.11:g.24885277T>G	gnomAD
CENPJ	Q9HC77	p.Glu1161Lys	rs1333278559	missense variant	-	NC_000013.11:g.24884460C>T	TOPMed
CENPJ	Q9HC77	p.Lys1162Asn	rs777321606	missense variant	-	NC_000013.11:g.24884455C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Val1163Phe	rs757899052	missense variant	-	NC_000013.11:g.24884454C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr1164His	rs377509326	missense variant	-	NC_000013.11:g.24884451A>G	ESP,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr1164Cys	rs200051824	missense variant	-	NC_000013.11:g.24884450T>C	1000Genomes,ExAC
CENPJ	Q9HC77	p.Cys1168Arg	rs764773804	missense variant	-	NC_000013.11:g.24884439A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg1169Cys	rs571084331	missense variant	-	NC_000013.11:g.24884436G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1169Ser	rs571084331	missense variant	-	NC_000013.11:g.24884436G>T	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1169His	rs753604037	missense variant	-	NC_000013.11:g.24884435C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile1171Leu	rs1268642925	missense variant	-	NC_000013.11:g.24884430T>A	gnomAD
CENPJ	Q9HC77	p.Ile1171Thr	rs200823017	missense variant	-	NC_000013.11:g.24884429A>G	1000Genomes,ExAC
CENPJ	Q9HC77	p.Phe1173Leu	rs1035262074	missense variant	-	NC_000013.11:g.24884422A>C	TOPMed
CENPJ	Q9HC77	p.Pro1174Thr	rs148716987	missense variant	-	NC_000013.11:g.24884421G>T	1000Genomes,ESP,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1174Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24884421G>A	NCI-TCGA
CENPJ	Q9HC77	p.Asn1175Ser	rs923946549	missense variant	-	NC_000013.11:g.24884417T>C	TOPMed
CENPJ	Q9HC77	p.Thr1177Pro	rs1356201439	missense variant	-	NC_000013.11:g.24884412T>G	gnomAD
CENPJ	Q9HC77	p.Arg1178Gln	rs773273237	missense variant	-	NC_000013.11:g.24884408C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1178Ter	rs760698184	stop gained	-	NC_000013.11:g.24884409G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1180Ter	RCV000728463	nonsense	-	NC_000013.11:g.24884402_24884403delinsCA	ClinVar
CENPJ	Q9HC77	p.Glu1180Gln	rs763097118	missense variant	-	NC_000013.11:g.24884403C>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1180Gly	rs775833921	missense variant	-	NC_000013.11:g.24884402T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu1180Ter	rs763097118	stop gained	-	NC_000013.11:g.24884403C>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val1181Leu	rs769932667	missense variant	-	NC_000013.11:g.24884400C>A	ExAC,TOPMed
CENPJ	Q9HC77	p.Ser1182Thr	rs1165802579	missense variant	-	NC_000013.11:g.24884396C>G	gnomAD
CENPJ	Q9HC77	p.Asp1184Asn	rs375852676	missense variant	-	NC_000013.11:g.24884391C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Asp1184Gly	COSM4822488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24884390T>C	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Asp1184Val	rs1417988885	missense variant	-	NC_000013.11:g.24884390T>A	gnomAD
CENPJ	Q9HC77	p.Asp1184His	rs375852676	missense variant	-	NC_000013.11:g.24884391C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Lys1186Gln	rs781415189	missense variant	-	NC_000013.11:g.24884385T>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile1188Phe	rs1182352523	missense variant	-	NC_000013.11:g.24884379T>A	gnomAD
CENPJ	Q9HC77	p.Thr1189Asn	rs778219526	missense variant	-	NC_000013.11:g.24884375G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Val1190Ala	rs1303161165	missense variant	-	NC_000013.11:g.24884372A>G	TOPMed
CENPJ	Q9HC77	p.ThrPhePheAsnGlyAsp1191ThrPhePheAsnGlyAspPheLeuTerTrpTerUnk	rs748968531	stop gained	-	NC_000013.11:g.24884370_24884371insCACCATTAAAGAAAGT	ExAC
CENPJ	Q9HC77	p.Phe1192Leu	rs1335692817	missense variant	-	NC_000013.11:g.24884365G>T	gnomAD
CENPJ	Q9HC77	p.Asp1196Asn	RCV000678241	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24884355C>T	ClinVar
CENPJ	Q9HC77	p.Asp1196Asn	rs1555294652	missense variant	-	NC_000013.11:g.24884355C>T	-
CENPJ	Q9HC77	p.Val1197Met	rs756206004	missense variant	-	NC_000013.11:g.24884352C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln1199Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24884346G>C	NCI-TCGA
CENPJ	Q9HC77	p.Gln1199Arg	rs753469048	missense variant	-	NC_000013.11:g.24884345T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Val1200Ala	rs766338148	missense variant	-	NC_000013.11:g.24884342A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Met1201Lys	rs750428180	missense variant	-	NC_000013.11:g.24884339A>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1202Ser	rs1462725248	missense variant	-	NC_000013.11:g.24884337G>A	gnomAD
CENPJ	Q9HC77	p.Asp1203Asn	rs372936942	missense variant	-	NC_000013.11:g.24884334C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp1203His	COSM1606952	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24884334C>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Val1206Leu	rs775464769	missense variant	-	NC_000013.11:g.24884325C>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile1207Val	rs1339278423	missense variant	-	NC_000013.11:g.24884245T>C	TOPMed
CENPJ	Q9HC77	p.Ile1207Met	rs145882096	missense variant	-	NC_000013.11:g.24884243G>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile1207Met	RCV000480718	missense variant	-	NC_000013.11:g.24884243G>C	ClinVar
CENPJ	Q9HC77	p.Tyr1208Asn	rs779826750	missense variant	-	NC_000013.11:g.24884242A>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Tyr1208Phe	rs756024691	missense variant	-	NC_000013.11:g.24884241T>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr1210Cys	rs1311005795	missense variant	-	NC_000013.11:g.24884235T>C	TOPMed
CENPJ	Q9HC77	p.Ala1212Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24884230C>T	NCI-TCGA
CENPJ	Q9HC77	p.Ala1212ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24884229_24884230insACTGTTAAAAA	NCI-TCGA
CENPJ	Q9HC77	p.Ala1212Val	rs1318374354	missense variant	-	NC_000013.11:g.24884229G>A	gnomAD
CENPJ	Q9HC77	p.Gln1214Arg	rs750268775	missense variant	-	NC_000013.11:g.24884223T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gln1214Pro	rs750268775	missense variant	-	NC_000013.11:g.24884223T>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr1215Ile	rs1356057923	missense variant	-	NC_000013.11:g.24884220G>A	TOPMed
CENPJ	Q9HC77	p.Thr1215Ala	rs1405692001	missense variant	-	NC_000013.11:g.24884221T>C	gnomAD
CENPJ	Q9HC77	p.Thr1218Lys	rs149855336	missense variant	-	NC_000013.11:g.24884211G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr1218Met	rs149855336	missense variant	-	NC_000013.11:g.24884211G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1221Leu	rs545623913	missense variant	-	NC_000013.11:g.24884202G>A	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly1223Val	rs766609527	missense variant	-	NC_000013.11:g.24884196C>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Glu1225Gln	rs760843694	missense variant	-	NC_000013.11:g.24884191C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.His1228Tyr	rs372725414	missense variant	-	NC_000013.11:g.24884182G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.His1228Asp	rs372725414	missense variant	-	NC_000013.11:g.24884182G>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser1230Ter	rs1157686013	stop gained	-	NC_000013.11:g.24884175G>C	gnomAD
CENPJ	Q9HC77	p.Ser1231Asn	rs1380709198	missense variant	-	NC_000013.11:g.24884172C>T	TOPMed
CENPJ	Q9HC77	p.Gly1232Glu	rs1231677593	missense variant	-	NC_000013.11:g.24884169C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1235Val	rs121434311	missense variant	Microcephaly 6, primary, autosomal recessive (MCPH6)	NC_000013.11:g.24884083T>A	UniProt,dbSNP
CENPJ	Q9HC77	p.Glu1235Val	VAR_032433	missense variant	Microcephaly 6, primary, autosomal recessive (MCPH6)	NC_000013.11:g.24884083T>A	UniProt
CENPJ	Q9HC77	p.Glu1235Val	rs121434311	missense variant	-	NC_000013.11:g.24884083T>A	-
CENPJ	Q9HC77	p.Glu1235Val	RCV000001891	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24884083T>A	ClinVar
CENPJ	Q9HC77	p.Pro1239Gln	rs764067875	missense variant	-	NC_000013.11:g.24884071G>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Asp1240Ala	rs758219010	missense variant	-	NC_000013.11:g.24884068T>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly1241Arg	rs199611185	missense variant	-	NC_000013.11:g.24884066C>T	1000Genomes,ExAC
CENPJ	Q9HC77	p.Gly1241TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.24884066_24884067insA	NCI-TCGA
CENPJ	Q9HC77	p.Arg1242Ile	rs483352749	missense variant	-	NC_000013.11:g.24884062C>A	gnomAD
CENPJ	Q9HC77	p.Arg1242Ter	rs766375794	stop gained	-	NC_000013.11:g.24884063T>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1242Lys	rs483352749	missense variant	-	NC_000013.11:g.24884062C>T	gnomAD
CENPJ	Q9HC77	p.Arg1242Lys	RCV000087234	missense variant	-	NC_000013.11:g.24884062C>T	ClinVar
CENPJ	Q9HC77	p.Lys1243Asn	rs1310906127	missense variant	-	NC_000013.11:g.24884058T>G	gnomAD
CENPJ	Q9HC77	p.Lys1243Gln	COSM1366046	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24884060T>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Lys1243Arg	rs760896734	missense variant	-	NC_000013.11:g.24884059T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1244Ter	COSM946233	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.24884057C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ile1245Val	rs773407596	missense variant	-	NC_000013.11:g.24884054T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr1246Arg	rs767833776	missense variant	-	NC_000013.11:g.24884050G>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr1246Met	rs767833776	missense variant	-	NC_000013.11:g.24884050G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Phe1247Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24884047A>C	NCI-TCGA
CENPJ	Q9HC77	p.Pro1248Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24884045G>A	NCI-TCGA
CENPJ	Q9HC77	p.Asp1249Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24884042C>T	NCI-TCGA
CENPJ	Q9HC77	p.Gln1250His	COSM696913	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24884037C>G	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Thr1251Ser	rs1420165332	missense variant	-	NC_000013.11:g.24884036T>A	gnomAD
CENPJ	Q9HC77	p.Lys1253Glu	rs1188721610	missense variant	-	NC_000013.11:g.24884030T>C	TOPMed,gnomAD
CENPJ	Q9HC77	p.Lys1253Gln	rs1188721610	missense variant	-	NC_000013.11:g.24884030T>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Phe1256Leu	rs774772906	missense variant	-	NC_000013.11:g.24884021A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro1257Thr	rs201774037	missense variant	-	NC_000013.11:g.24884018G>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1257Ser	rs201774037	missense variant	-	NC_000013.11:g.24884018G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1257Thr	RCV000260947	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24884018G>T	ClinVar
CENPJ	Q9HC77	p.Pro1257Ala	rs201774037	missense variant	-	NC_000013.11:g.24884018G>C	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Pro1257Thr	RCV000332452	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24884018G>T	ClinVar
CENPJ	Q9HC77	p.Asp1258Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24884013A>C	NCI-TCGA
CENPJ	Q9HC77	p.Gly1259Ala	rs1324315103	missense variant	-	NC_000013.11:g.24884011C>G	gnomAD
CENPJ	Q9HC77	p.Gln1260Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24884009G>T	NCI-TCGA
CENPJ	Q9HC77	p.Gln1260Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24884009G>C	NCI-TCGA
CENPJ	Q9HC77	p.Glu1261Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24884006C>A	NCI-TCGA
CENPJ	Q9HC77	p.Glu1262Gly	rs780864883	missense variant	-	NC_000013.11:g.24884002T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1262Ala	rs780864883	missense variant	-	NC_000013.11:g.24884002T>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser1263Ile	COSM946232	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24883999C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ser1263Gly	rs770678971	missense variant	-	NC_000013.11:g.24884000T>C	ExAC
CENPJ	Q9HC77	p.Phe1265Cys	rs1203412247	missense variant	-	NC_000013.11:g.24883993A>C	gnomAD
CENPJ	Q9HC77	p.Asp1267Glu	rs1315647572	missense variant	-	NC_000013.11:g.24883986A>T	gnomAD
CENPJ	Q9HC77	p.Gly1268Asp	rs151090294	missense variant	-	NC_000013.11:g.24883984C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly1268Ser	rs746843303	missense variant	-	NC_000013.11:g.24883985C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile1270Thr	rs758358045	missense variant	-	NC_000013.11:g.24883978A>G	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile1270Thr	RCV000194079	missense variant	-	NC_000013.11:g.24883978A>G	ClinVar
CENPJ	Q9HC77	p.Val1271Ile	rs1310491060	missense variant	-	NC_000013.11:g.24883976C>T	gnomAD
CENPJ	Q9HC77	p.Arg1272Thr	rs1373825378	missense variant	-	NC_000013.11:g.24883972C>G	gnomAD
CENPJ	Q9HC77	p.Val1273Ile	rs752568366	missense variant	-	NC_000013.11:g.24883970C>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg1275Cys	rs1396945698	missense variant	-	NC_000013.11:g.24883964G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1275His	rs373851349	missense variant	-	NC_000013.11:g.24883963C>T	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1275Leu	rs373851349	missense variant	-	NC_000013.11:g.24883963C>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly1277Asp	COSM4046695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24883364C>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Asn1278Asp	COSM946231	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24883362T>C	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Glu1282Gly	rs1233891024	missense variant	-	NC_000013.11:g.24883349T>C	gnomAD
CENPJ	Q9HC77	p.GluPhe1282GluTerValUnk	rs1265306027	stop gained	-	NC_000013.11:g.24883347_24883350dup	TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1282Ter	rs867761254	stop gained	-	NC_000013.11:g.24883350C>A	TOPMed
CENPJ	Q9HC77	p.Asn1284Ser	rs1201839113	missense variant	-	NC_000013.11:g.24883343T>C	gnomAD
CENPJ	Q9HC77	p.Asn1285His	rs1213678504	missense variant	-	NC_000013.11:g.24883341T>G	TOPMed
CENPJ	Q9HC77	p.His1291Asn	rs947799947	missense variant	-	NC_000013.11:g.24883323G>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.His1291Tyr	rs947799947	missense variant	-	NC_000013.11:g.24883323G>A	TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr1292Ile	rs374621307	missense variant	-	NC_000013.11:g.24883319G>A	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ala1293Asp	rs753304506	missense variant	-	NC_000013.11:g.24883316G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Ala1293Val	COSM3467934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24883316G>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Ala1293Ser	rs1452329994	missense variant	-	NC_000013.11:g.24883317C>A	TOPMed
CENPJ	Q9HC77	p.Phe1295Leu	rs1192831884	missense variant	-	NC_000013.11:g.24883311A>G	TOPMed
CENPJ	Q9HC77	p.Lys1296Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24883308T>C	NCI-TCGA
CENPJ	Q9HC77	p.Lys1296Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24883307T>G	NCI-TCGA
CENPJ	Q9HC77	p.Arg1298Gln	RCV000625781	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24883301C>T	ClinVar
CENPJ	Q9HC77	p.Arg1298Gln	rs1477524771	missense variant	-	NC_000013.11:g.24883301C>T	gnomAD
CENPJ	Q9HC77	p.Arg1298Trp	rs765865777	missense variant	-	NC_000013.11:g.24883302G>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Pro1301Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24883293G>T	NCI-TCGA
CENPJ	Q9HC77	p.Val1305Ala	rs776208137	missense variant	-	NC_000013.11:g.24883280A>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr1307Ile	rs144251950	missense variant	-	NC_000013.11:g.24883274G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr1307Ile	RCV000765126	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24883274G>A	ClinVar
CENPJ	Q9HC77	p.Thr1307Ile	RCV000145580	missense variant	Primary autosomal recessive microcephaly 6 (MCPH6)	NC_000013.11:g.24883274G>A	ClinVar
CENPJ	Q9HC77	p.Thr1307Ile	RCV000513419	missense variant	-	NC_000013.11:g.24883274G>A	ClinVar
CENPJ	Q9HC77	p.Val1308Ile	rs140564566	missense variant	-	NC_000013.11:g.24883272C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Val1308Ile	RCV000353449	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24883272C>T	ClinVar
CENPJ	Q9HC77	p.Val1308Ile	RCV000300908	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24883272C>T	ClinVar
CENPJ	Q9HC77	p.Val1308Ile	RCV000175220	missense variant	-	NC_000013.11:g.24883272C>T	ClinVar
CENPJ	Q9HC77	p.Gly1312Ser	RCV000359272	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24883260C>T	ClinVar
CENPJ	Q9HC77	p.Gly1312Ser	RCV000393550	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24883260C>T	ClinVar
CENPJ	Q9HC77	p.Gly1312Ser	rs201508087	missense variant	-	NC_000013.11:g.24883260C>T	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly1312Arg	rs201508087	missense variant	-	NC_000013.11:g.24883260C>G	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.His1313Gln	COSM4046692	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24883255A>T	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.His1313Tyr	rs1228356239	missense variant	-	NC_000013.11:g.24883257G>A	gnomAD
CENPJ	Q9HC77	p.His1313Ter	RCV000470349	frameshift	Seckel syndrome 5 (SCKL5)	NC_000013.11:g.24883255_24883258del	ClinVar
CENPJ	Q9HC77	p.Gln1314Ter	RCV000734134	nonsense	-	NC_000013.11:g.24883254G>A	ClinVar
CENPJ	Q9HC77	p.Glu1315Gln	rs761333511	missense variant	-	NC_000013.11:g.24883251C>G	-
CENPJ	Q9HC77	p.Glu1315Ala	rs1440589180	missense variant	-	NC_000013.11:g.24883250T>G	TOPMed
CENPJ	Q9HC77	p.Glu1315Gln	RCV000302204	missense variant	Primary Microcephaly, Recessive	NC_000013.11:g.24883251C>G	ClinVar
CENPJ	Q9HC77	p.Glu1315Gln	RCV000398862	missense variant	Seckel syndrome (SCKL1)	NC_000013.11:g.24883251C>G	ClinVar
CENPJ	Q9HC77	p.Glu1315Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.24883251C>A	NCI-TCGA
CENPJ	Q9HC77	p.Thr1316Met	rs370980033	missense variant	-	NC_000013.11:g.24883247G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr1316Lys	rs370980033	missense variant	-	NC_000013.11:g.24883247G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Tyr1318Phe	rs757270924	missense variant	-	NC_000013.11:g.24883241T>A	ExAC,gnomAD
CENPJ	Q9HC77	p.Arg1319Thr	rs1356644389	missense variant	-	NC_000013.11:g.24883238C>G	TOPMed,gnomAD
CENPJ	Q9HC77	p.Ser1320Thr	rs747324386	missense variant	-	NC_000013.11:g.24883236A>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Gly1321Ser	rs758643085	missense variant	-	NC_000013.11:g.24883233C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1322Gln	rs775936765	missense variant	-	NC_000013.11:g.24883229C>T	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1322Trp	rs753141177	missense variant	-	NC_000013.11:g.24883230G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Ile1323Val	rs560501361	missense variant	-	NC_000013.11:g.24883227T>C	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Arg1324Ser	rs1481370691	missense variant	-	NC_000013.11:g.24883222T>A	TOPMed
CENPJ	Q9HC77	p.Arg1324Lys	rs897346880	missense variant	-	NC_000013.11:g.24883223C>T	TOPMed,gnomAD
CENPJ	Q9HC77	p.Val1325Ile	rs1476181384	missense variant	-	NC_000013.11:g.24883221C>T	gnomAD
CENPJ	Q9HC77	p.Asp1327Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24883214T>A	NCI-TCGA
CENPJ	Q9HC77	p.Asp1327Glu	rs754283195	missense variant	-	NC_000013.11:g.24883213G>T	ExAC,gnomAD
CENPJ	Q9HC77	p.Lys1328Arg	rs765976013	missense variant	-	NC_000013.11:g.24883211T>C	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Gly1330Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24883206C>A	NCI-TCGA
CENPJ	Q9HC77	p.Gly1330Asp	rs1196634965	missense variant	-	NC_000013.11:g.24883205C>T	gnomAD
CENPJ	Q9HC77	p.Gly1330Ser	rs1003148931	missense variant	-	NC_000013.11:g.24883206C>T	TOPMed
CENPJ	Q9HC77	p.Asn1331His	rs1256302157	missense variant	-	NC_000013.11:g.24883203T>G	gnomAD
CENPJ	Q9HC77	p.Leu1333Ile	rs190161823	missense variant	-	NC_000013.11:g.24883197G>T	1000Genomes,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Met1334Thr	rs373179147	missense variant	-	NC_000013.11:g.24883193A>G	ESP,ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Met1334Ile	rs749305107	missense variant	-	NC_000013.11:g.24883192C>G	ExAC,gnomAD
CENPJ	Q9HC77	p.Met1334Ile	COSM266230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.24883192C>A	NCI-TCGA Cosmic
CENPJ	Q9HC77	p.Met1334Val	rs774140825	missense variant	-	NC_000013.11:g.24883194T>C	ExAC,gnomAD
CENPJ	Q9HC77	p.Thr1336Met	rs771084235	missense variant	-	NC_000013.11:g.24883187G>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Thr1336Ser	rs775286475	missense variant	-	NC_000013.11:g.24883188T>A	ExAC,TOPMed,gnomAD
CENPJ	Q9HC77	p.Glu1337Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.24883185C>T	NCI-TCGA
TANC2	Q9HCD6	p.Phe2Ile	rs1293013054	missense variant	-	NC_000017.11:g.63009563T>A	gnomAD
TANC2	Q9HCD6	p.Arg3Gln	rs762051832	missense variant	-	NC_000017.11:g.63009567G>A	ExAC,TOPMed
TANC2	Q9HCD6	p.Ser5Gly	rs199889425	missense variant	-	NC_000017.11:g.63009572A>G	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Ser5Asn	COSM5429187	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63009573G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Leu6Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63009575C>T	NCI-TCGA
TANC2	Q9HCD6	p.Thr11Ala	rs376072973	missense variant	-	NC_000017.11:g.63009590A>G	ESP,TOPMed
TANC2	Q9HCD6	p.Gly12Ala	rs751404068	missense variant	-	NC_000017.11:g.63009594G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly12Asp	rs751404068	missense variant	-	NC_000017.11:g.63009594G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser16Gly	rs1221837434	missense variant	-	NC_000017.11:g.63009605A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser16Asn	rs1271573443	missense variant	-	NC_000017.11:g.63009606G>A	gnomAD
TANC2	Q9HCD6	p.Arg17Cys	rs759452024	missense variant	-	NC_000017.11:g.63009608C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg17His	rs767416460	missense variant	-	NC_000017.11:g.63009609G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Lys18Arg	rs201847314	missense variant	-	NC_000017.11:g.63009612A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn19Ser	rs755518950	missense variant	-	NC_000017.11:g.63009615A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg20LysPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63009616_63009617insAAATAAAAATTTAAAA	NCI-TCGA
TANC2	Q9HCD6	p.Arg20Lys	rs777377517	missense variant	-	NC_000017.11:g.63009618G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser21LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63009618_63009619insAAAAAAGAAAACTT	NCI-TCGA
TANC2	Q9HCD6	p.Ser22Asn	rs1452667303	missense variant	-	NC_000017.11:g.63009624G>A	TOPMed
TANC2	Q9HCD6	p.Asp23Glu	rs753461149	missense variant	-	NC_000017.11:g.63073944T>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser26Arg	rs368947999	missense variant	-	NC_000017.11:g.63073953C>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu27Lys	rs764916506	missense variant	-	NC_000017.11:g.63073954G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu28Lys	rs1279640435	missense variant	-	NC_000017.11:g.63073957G>A	gnomAD
TANC2	Q9HCD6	p.Pro29Leu	rs1407515069	missense variant	-	NC_000017.11:g.63073961C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro29Ala	rs750115471	missense variant	-	NC_000017.11:g.63073960C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro30Leu	rs1437062053	missense variant	-	NC_000017.11:g.63073964C>T	TOPMed
TANC2	Q9HCD6	p.Asp31Asn	rs747441098	missense variant	-	NC_000017.11:g.63073966G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg32Gln	rs1215467764	missense variant	-	NC_000017.11:g.63073970G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg32Gly	rs1468782400	missense variant	-	NC_000017.11:g.63073969C>G	gnomAD
TANC2	Q9HCD6	p.Ser35Leu	rs1467980101	missense variant	-	NC_000017.11:g.63073979C>T	gnomAD
TANC2	Q9HCD6	p.Ser36Asn	rs1198178736	missense variant	-	NC_000017.11:g.63073982G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser36Arg	rs755557492	missense variant	-	NC_000017.11:g.63073983T>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser36Thr	rs1198178736	missense variant	-	NC_000017.11:g.63073982G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp38Glu	rs781235539	missense variant	-	NC_000017.11:g.63073989C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg40Leu	rs749544865	missense variant	-	NC_000017.11:g.63073994G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg40Cys	rs183360210	missense variant	-	NC_000017.11:g.63073993C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg40Ser	rs183360210	missense variant	-	NC_000017.11:g.63073993C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg40ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63073989_63073990CT>-	NCI-TCGA
TANC2	Q9HCD6	p.Arg40His	rs749544865	missense variant	-	NC_000017.11:g.63073994G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg40Gly	rs183360210	missense variant	-	NC_000017.11:g.63073993C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg43His	rs760520399	missense variant	-	NC_000017.11:g.63074003G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg43Cys	rs200043598	missense variant	-	NC_000017.11:g.63074002C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser44Pro	rs1337050229	missense variant	-	NC_000017.11:g.63074005T>C	gnomAD
TANC2	Q9HCD6	p.Gly47Cys	rs868711987	missense variant	-	NC_000017.11:g.63074014G>T	gnomAD
TANC2	Q9HCD6	p.Gly47Ser	rs868711987	missense variant	-	NC_000017.11:g.63074014G>A	gnomAD
TANC2	Q9HCD6	p.Gly48Asp	rs1194084981	missense variant	-	NC_000017.11:g.63099178G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly48Asp	rs1194084981	missense variant	-	NC_000017.11:g.63099178G>A	NCI-TCGA
TANC2	Q9HCD6	p.Gly48Val	rs1194084981	missense variant	-	NC_000017.11:g.63099178G>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile49Asn	rs777873115	missense variant	-	NC_000017.11:g.63099181T>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile49Thr	rs777873115	missense variant	-	NC_000017.11:g.63099181T>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser50Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63099184C>G	NCI-TCGA
TANC2	Q9HCD6	p.Thr51Ala	rs1315894538	missense variant	-	NC_000017.11:g.63099186A>G	TOPMed
TANC2	Q9HCD6	p.Glu52Lys	rs1255812940	missense variant	-	NC_000017.11:g.63099189G>A	gnomAD
TANC2	Q9HCD6	p.Asp54Asn	rs373822154	missense variant	-	NC_000017.11:g.63099195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp54Gly	rs1375215908	missense variant	-	NC_000017.11:g.63099196A>G	gnomAD
TANC2	Q9HCD6	p.Cys55Ser	rs746751671	missense variant	-	NC_000017.11:g.63099199G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Cys55Trp	rs957239518	missense variant	-	NC_000017.11:g.63099200T>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Cys55Arg	rs775147144	missense variant	-	NC_000017.11:g.63099198T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Cys55Tyr	rs746751671	missense variant	-	NC_000017.11:g.63099199G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu58Lys	rs1375554395	missense variant	-	NC_000017.11:g.63099207G>A	gnomAD
TANC2	Q9HCD6	p.Asp60Gly	rs1436156823	missense variant	-	NC_000017.11:g.63099214A>G	gnomAD
TANC2	Q9HCD6	p.Tyr61Cys	rs768584624	missense variant	-	NC_000017.11:g.63099217A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala62Thr	rs377328939	missense variant	-	NC_000017.11:g.63099219G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro64Leu	rs754479608	missense variant	-	NC_000017.11:g.63099226C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro65Ser	rs751172282	missense variant	-	NC_000017.11:g.63099228C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu66Pro	rs376757064	missense variant	-	NC_000017.11:g.63099232T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu66Val	rs767889295	missense variant	-	NC_000017.11:g.63099231C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro67Ser	rs756666637	missense variant	-	NC_000017.11:g.63099234C>T	NCI-TCGA
TANC2	Q9HCD6	p.Pro67Ser	rs756666637	missense variant	-	NC_000017.11:g.63099234C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro67Ala	rs756666637	missense variant	-	NC_000017.11:g.63099234C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val68Leu	rs754020906	missense variant	-	NC_000017.11:g.63099237G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser69Arg	rs1445736600	missense variant	-	NC_000017.11:g.63099240A>C	gnomAD
TANC2	Q9HCD6	p.Ser69Asn	rs552420639	missense variant	-	NC_000017.11:g.63099241G>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser69Asn	rs552420639	missense variant	-	NC_000017.11:g.63099241G>A	NCI-TCGA,NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser69Arg	rs1292553380	missense variant	-	NC_000017.11:g.63099242T>G	TOPMed
TANC2	Q9HCD6	p.Ser69Thr	rs552420639	missense variant	-	NC_000017.11:g.63099241G>C	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu70Gln	rs1395135042	missense variant	-	NC_000017.11:g.63099243G>C	gnomAD
TANC2	Q9HCD6	p.Glu70Ala	rs779139258	missense variant	-	NC_000017.11:g.63099244A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly71Asp	rs1205926778	missense variant	-	NC_000017.11:g.63193991G>A	gnomAD
TANC2	Q9HCD6	p.Asp72Glu	rs769716095	missense variant	-	NC_000017.11:g.63193995T>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu77Phe	rs1482500371	missense variant	-	NC_000017.11:g.63194008C>T	gnomAD
TANC2	Q9HCD6	p.Pro79Ser	rs749201325	missense variant	-	NC_000017.11:g.63194014C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro80His	rs1420055688	missense variant	-	NC_000017.11:g.63194018C>A	gnomAD
TANC2	Q9HCD6	p.Pro80Ala	rs770432077	missense variant	-	NC_000017.11:g.63194017C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro80Arg	rs1420055688	missense variant	-	NC_000017.11:g.63194018C>G	gnomAD
TANC2	Q9HCD6	p.Pro80Leu	rs1420055688	missense variant	-	NC_000017.11:g.63194018C>T	gnomAD
TANC2	Q9HCD6	p.Glu85Asp	rs1368827241	missense variant	-	NC_000017.11:g.63194034G>T	gnomAD
TANC2	Q9HCD6	p.Glu85LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63194030_63194031insCC	NCI-TCGA
TANC2	Q9HCD6	p.Ala86Thr	rs780001108	missense variant	-	NC_000017.11:g.63194035G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu90Ile	rs760975964	missense variant	-	NC_000017.11:g.63194047C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu90His	rs764388206	missense variant	-	NC_000017.11:g.63194048T>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Met91Thr	rs1434782515	missense variant	-	NC_000017.11:g.63194051T>C	TOPMed
TANC2	Q9HCD6	p.Arg93Cys	rs1216857524	missense variant	-	NC_000017.11:g.63194056C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg93His	rs1017318392	missense variant	-	NC_000017.11:g.63194057G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly95Ser	rs1340900917	missense variant	-	NC_000017.11:g.63194062G>A	gnomAD
TANC2	Q9HCD6	p.Leu98Ile	rs1024277687	missense variant	-	NC_000017.11:g.63194071C>A	TOPMed
TANC2	Q9HCD6	p.Gly99Arg	rs1234548944	missense variant	-	NC_000017.11:g.63194074G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly99Arg	rs1234548944	missense variant	-	NC_000017.11:g.63194074G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys101Thr	rs374177469	missense variant	-	NC_000017.11:g.63194081A>C	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys101Asn	rs1189184480	missense variant	-	NC_000017.11:g.63194082A>T	TOPMed
TANC2	Q9HCD6	p.Lys101Glu	rs1480699706	missense variant	-	NC_000017.11:g.63194080A>G	TOPMed
TANC2	Q9HCD6	p.Thr103Ala	rs1440342044	missense variant	-	NC_000017.11:g.63194086A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu104Ala	rs1209090765	missense variant	-	NC_000017.11:g.63194090A>C	gnomAD
TANC2	Q9HCD6	p.Val105Gly	rs1186640212	missense variant	-	NC_000017.11:g.63194093T>G	gnomAD
TANC2	Q9HCD6	p.Val105Phe	rs1486784756	missense variant	-	NC_000017.11:g.63194092G>T	gnomAD
TANC2	Q9HCD6	p.Gly108Ser	rs750587271	missense variant	-	NC_000017.11:g.63194101G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp109Tyr	rs1174496373	missense variant	-	NC_000017.11:g.63194104G>T	gnomAD
TANC2	Q9HCD6	p.Gln110Glu	rs542076646	missense variant	-	NC_000017.11:g.63194107C>G	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln110Lys	rs542076646	missense variant	-	NC_000017.11:g.63194107C>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr111Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63194112C>A	NCI-TCGA
TANC2	Q9HCD6	p.Ser112Asn	rs368358169	missense variant	-	NC_000017.11:g.63194114G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Met113Arg	rs755920448	missense variant	-	NC_000017.11:g.63194117T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln116Leu	rs1319198280	missense variant	-	NC_000017.11:g.63194126A>T	gnomAD
TANC2	Q9HCD6	p.Gln120Arg	rs1440917384	missense variant	-	NC_000017.11:g.63194138A>G	gnomAD
TANC2	Q9HCD6	p.Thr121Ala	rs766584396	missense variant	-	NC_000017.11:g.63200771A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg127Trp	rs755191740	missense variant	-	NC_000017.11:g.63200789C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg127Gln	rs371507266	missense variant	-	NC_000017.11:g.63200790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile128Val	rs1292082774	missense variant	-	NC_000017.11:g.63200792A>G	gnomAD
TANC2	Q9HCD6	p.Ser129Arg	COSM982507	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63200797T>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Thr133Ile	rs753644514	missense variant	-	NC_000017.11:g.63200808C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser136Gly	rs376672390	missense variant	-	NC_000017.11:g.63200816A>G	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Ser137Asn	rs745832485	missense variant	-	NC_000017.11:g.63200820G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr138Ile	rs779580541	missense variant	-	NC_000017.11:g.63200823C>T	ExAC
TANC2	Q9HCD6	p.Thr138Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63200822A>G	NCI-TCGA
TANC2	Q9HCD6	p.Thr138Pro	rs757864126	missense variant	-	NC_000017.11:g.63200822A>C	ExAC
TANC2	Q9HCD6	p.Ala139Ser	rs746643663	missense variant	-	NC_000017.11:g.63200825G>T	ExAC
TANC2	Q9HCD6	p.Ala139Val	rs1180406160	missense variant	-	NC_000017.11:g.63200826C>T	gnomAD
TANC2	Q9HCD6	p.Ser140Pro	rs781614403	missense variant	-	NC_000017.11:g.63200828T>C	ExAC
TANC2	Q9HCD6	p.Ser140Cys	COSM4822522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63200829C>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Pro141Leu	rs770207350	missense variant	-	NC_000017.11:g.63200832C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Cys147Tyr	rs774620189	missense variant	-	NC_000017.11:g.63200850G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser148Cys	rs759802007	missense variant	-	NC_000017.11:g.63200853C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr149Ala	rs767571631	missense variant	-	NC_000017.11:g.63200855A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro152Arg	rs1355902651	missense variant	-	NC_000017.11:g.63200865C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile153Thr	rs117690040	missense variant	-	NC_000017.11:g.63200868T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile153Val	rs1235044719	missense variant	-	NC_000017.11:g.63200867A>G	gnomAD
TANC2	Q9HCD6	p.Ile153Ser	rs117690040	missense variant	-	NC_000017.11:g.63200868T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser154Asn	rs1355559251	missense variant	-	NC_000017.11:g.63200871G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr155Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63200874C>A	NCI-TCGA
TANC2	Q9HCD6	p.Ala157Glu	rs372846249	missense variant	-	NC_000017.11:g.63200880C>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala157Thr	rs1209255352	missense variant	-	NC_000017.11:g.63200879G>A	gnomAD
TANC2	Q9HCD6	p.Thr158Ala	rs201042925	missense variant	-	NC_000017.11:g.63200882A>G	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala159Val	rs750331255	missense variant	-	NC_000017.11:g.63200886C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Lys160Glu	rs1419078798	missense variant	-	NC_000017.11:g.63200888A>G	TOPMed
TANC2	Q9HCD6	p.Asp161Asn	rs375435674	missense variant	-	NC_000017.11:g.63200891G>A	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Ser163Thr	rs1206638765	missense variant	-	NC_000017.11:g.63200898G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr164His	rs1190217186	missense variant	-	NC_000017.11:g.63200900T>C	gnomAD
TANC2	Q9HCD6	p.Gly165Ala	rs1253248206	missense variant	-	NC_000017.11:g.63200904G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly165Glu	COSM2794558	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63200904G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ala166Pro	rs201520197	missense variant	-	NC_000017.11:g.63200906G>C	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala166Val	COSM4068513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63200907C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ala166Ser	rs201520197	missense variant	-	NC_000017.11:g.63200906G>T	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr168Ile	rs1472767516	missense variant	-	NC_000017.11:g.63200913C>T	gnomAD
TANC2	Q9HCD6	p.Ser169Gly	rs1028077442	missense variant	-	NC_000017.11:g.63200915A>G	TOPMed
TANC2	Q9HCD6	p.Pro170Ser	COSM3520592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63200918C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Thr171Ser	rs1371904597	missense variant	-	NC_000017.11:g.63200921A>T	gnomAD
TANC2	Q9HCD6	p.Thr171Ala	rs1371904597	missense variant	-	NC_000017.11:g.63200921A>G	gnomAD
TANC2	Q9HCD6	p.Thr171Asn	rs1323298996	missense variant	-	NC_000017.11:g.63200922C>A	TOPMed
TANC2	Q9HCD6	p.Arg177Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63200940G>C	NCI-TCGA
TANC2	Q9HCD6	p.Arg177Lys	rs747858720	missense variant	-	NC_000017.11:g.63200940G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr186Ser	rs1344818284	missense variant	-	NC_000017.11:g.63237822A>T	gnomAD
TANC2	Q9HCD6	p.Ser187Asn	rs1209899492	missense variant	-	NC_000017.11:g.63237826G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser187Thr	rs1209899492	missense variant	-	NC_000017.11:g.63237826G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser189Cys	rs755877273	missense variant	-	NC_000017.11:g.63237832C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser189Tyr	rs755877273	missense variant	-	NC_000017.11:g.63237832C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn191LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63237834_63237835insA	NCI-TCGA
TANC2	Q9HCD6	p.Val192Leu	rs1188923003	missense variant	-	NC_000017.11:g.63237840G>T	TOPMed
TANC2	Q9HCD6	p.Arg194His	rs144412511	missense variant	-	NC_000017.11:g.63237847G>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg194Cys	rs377601940	missense variant	-	NC_000017.11:g.63237846C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys196Gln	rs564167660	missense variant	-	NC_000017.11:g.63237852A>C	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Ala198Ser	rs1196364888	missense variant	-	NC_000017.11:g.63237858G>T	gnomAD
TANC2	Q9HCD6	p.Gly199Glu	rs746422304	missense variant	-	NC_000017.11:g.63237862G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu200Asp	rs1264414343	missense variant	-	NC_000017.11:g.63237866A>C	TOPMed
TANC2	Q9HCD6	p.Ser201Gly	rs1242004650	missense variant	-	NC_000017.11:g.63237867A>G	TOPMed
TANC2	Q9HCD6	p.Ser201Ile	rs1454183238	missense variant	-	NC_000017.11:g.63237868G>T	gnomAD
TANC2	Q9HCD6	p.Ser202Gly	rs1161108951	missense variant	-	NC_000017.11:g.63237870A>G	gnomAD
TANC2	Q9HCD6	p.Gly209Glu	COSM4835355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63237892G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Asn210Ile	rs549495715	missense variant	-	NC_000017.11:g.63237895A>T	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Ile211Val	rs775688847	missense variant	-	NC_000017.11:g.63237897A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile211Met	rs1368453607	missense variant	-	NC_000017.11:g.63237899A>G	gnomAD
TANC2	Q9HCD6	p.Lys212Gln	rs747187471	missense variant	-	NC_000017.11:g.63237900A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro213Thr	rs1299545972	missense variant	-	NC_000017.11:g.63237903C>A	gnomAD
TANC2	Q9HCD6	p.Trp214Cys	rs1229328527	missense variant	-	NC_000017.11:g.63237908G>T	gnomAD
TANC2	Q9HCD6	p.Gln215Lys	rs762674905	missense variant	-	NC_000017.11:g.63237909C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser219Cys	rs1208696125	missense variant	-	NC_000017.11:g.63237922C>G	gnomAD
TANC2	Q9HCD6	p.Ser220ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63237922_63237923insAACTCAAGATA	NCI-TCGA
TANC2	Q9HCD6	p.Ser220Gly	rs1265491241	missense variant	-	NC_000017.11:g.63237924A>G	gnomAD
TANC2	Q9HCD6	p.Met221Thr	rs1189097027	missense variant	-	NC_000017.11:g.63237928T>C	gnomAD
TANC2	Q9HCD6	p.Met221Val	rs201315770	missense variant	-	NC_000017.11:g.63237927A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser223Phe	rs1318746309	missense variant	-	NC_000017.11:g.63237934C>T	TOPMed
TANC2	Q9HCD6	p.Cys224Ser	rs759558896	missense variant	-	NC_000017.11:g.63237937G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr226Cys	rs1391526265	missense variant	-	NC_000017.11:g.63237943A>G	TOPMed
TANC2	Q9HCD6	p.Arg227Gln	rs1409531518	missense variant	-	NC_000017.11:g.63237946G>A	gnomAD
TANC2	Q9HCD6	p.Arg227Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63237945C>T	NCI-TCGA
TANC2	Q9HCD6	p.Val228Ala	rs1292956002	missense variant	-	NC_000017.11:g.63237949T>C	TOPMed
TANC2	Q9HCD6	p.Asn231Ile	rs1372278222	missense variant	-	NC_000017.11:g.63237958A>T	TOPMed
TANC2	Q9HCD6	p.Ala234Pro	rs763783613	missense variant	-	NC_000017.11:g.63237966G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr236Ser	rs548539914	missense variant	-	NC_000017.11:g.63237973C>G	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Thr236Ala	rs1459446240	missense variant	-	NC_000017.11:g.63237972A>G	gnomAD
TANC2	Q9HCD6	p.Tyr237Cys	rs757656357	missense variant	-	NC_000017.11:g.63237976A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser238Arg	rs1448615712	missense variant	-	NC_000017.11:g.63237980T>G	TOPMed
TANC2	Q9HCD6	p.Asn240Ser	rs1290562918	missense variant	-	NC_000017.11:g.63237985A>G	gnomAD
TANC2	Q9HCD6	p.Ile242Phe	rs779376027	missense variant	-	NC_000017.11:g.63237990A>T	ExAC
TANC2	Q9HCD6	p.Pro243Leu	rs370972389	missense variant	-	NC_000017.11:g.63237994C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu244Lys	rs1314150006	missense variant	-	NC_000017.11:g.63237996G>A	gnomAD
TANC2	Q9HCD6	p.Glu244Val	rs1200536468	missense variant	-	NC_000017.11:g.63237997A>T	TOPMed
TANC2	Q9HCD6	p.Glu244Asp	rs779995743	missense variant	-	NC_000017.11:g.63237998G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg245Lys	rs375527040	missense variant	-	NC_000017.11:g.63238000G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu247Ser	rs1264374457	missense variant	-	NC_000017.11:g.63238006T>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr249Ile	rs768734001	missense variant	-	NC_000017.11:g.63238012C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln253Arg	rs1182234949	missense variant	-	NC_000017.11:g.63238024A>G	gnomAD
TANC2	Q9HCD6	p.Ser254Ala	rs748397247	missense variant	-	NC_000017.11:g.63238026T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln256Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63238033A>T	NCI-TCGA
TANC2	Q9HCD6	p.Ile258Val	rs1321681097	missense variant	-	NC_000017.11:g.63238038A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Met263Ile	rs534965097	missense variant	-	NC_000017.11:g.63238055G>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Met263Val	rs767556585	missense variant	-	NC_000017.11:g.63238053A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Met263Ile	rs534965097	missense variant	-	NC_000017.11:g.63238055G>C	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg265Trp	rs760215311	missense variant	-	NC_000017.11:g.63238059C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg265Gln	rs1235906366	missense variant	-	NC_000017.11:g.63238060G>A	TOPMed
TANC2	Q9HCD6	p.His276Arg	rs1178990187	missense variant	-	NC_000017.11:g.63267763A>G	TOPMed
TANC2	Q9HCD6	p.Asp279Gly	rs778567291	missense variant	-	NC_000017.11:g.63267772A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala281Thr	rs898876116	missense variant	-	NC_000017.11:g.63267777G>A	TOPMed
TANC2	Q9HCD6	p.Tyr282Cys	rs1162654174	missense variant	-	NC_000017.11:g.63267781A>G	gnomAD
TANC2	Q9HCD6	p.Asp284Gly	rs745608593	missense variant	-	NC_000017.11:g.63267787A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln286Glu	rs1475191387	missense variant	-	NC_000017.11:g.63267792C>G	gnomAD
TANC2	Q9HCD6	p.Gln286Arg	rs370855180	missense variant	-	NC_000017.11:g.63267793A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg287Thr	rs1486492513	missense variant	-	NC_000017.11:g.63267796G>C	TOPMed
TANC2	Q9HCD6	p.His288Arg	rs373961923	missense variant	-	NC_000017.11:g.63267799A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr289Pro	rs776342589	missense variant	-	NC_000017.11:g.63267801A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr289Ile	rs761556714	missense variant	-	NC_000017.11:g.63267802C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr289Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63267801A>G	NCI-TCGA
TANC2	Q9HCD6	p.Pro290Ala	rs764880643	missense variant	-	NC_000017.11:g.63267804C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser294Phe	COSM706524	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63267817C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser294Tyr	COSM1385110	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63267817C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg296Gln	rs763326514	missense variant	-	NC_000017.11:g.63267823G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Met297Val	rs766681632	missense variant	-	NC_000017.11:g.63267825A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro298Ala	rs752026592	missense variant	-	NC_000017.11:g.63267828C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro298Ser	COSM982511	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63267828C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg299Ser	rs755523835	missense variant	-	NC_000017.11:g.63267833A>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln300Lys	rs1268551911	missense variant	-	NC_000017.11:g.63267834C>A	gnomAD
TANC2	Q9HCD6	p.Gln300Glu	rs1268551911	missense variant	-	NC_000017.11:g.63267834C>G	gnomAD
TANC2	Q9HCD6	p.Gly303Asp	rs944064015	missense variant	-	NC_000017.11:g.63267844G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg306Leu	rs756151305	missense variant	-	NC_000017.11:g.63267853G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg306His	rs756151305	missense variant	-	NC_000017.11:g.63267853G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg306Cys	rs752840067	missense variant	-	NC_000017.11:g.63267852C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr307Pro	rs1440480178	missense variant	-	NC_000017.11:g.63267855A>C	TOPMed
TANC2	Q9HCD6	p.Arg314His	rs774755576	missense variant	-	NC_000017.11:g.63314391G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg314Cys	rs766703437	missense variant	-	NC_000017.11:g.63314390C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Phe315Ser	rs1356974520	missense variant	-	NC_000017.11:g.63314394T>C	gnomAD
TANC2	Q9HCD6	p.Ala316Val	rs760032068	missense variant	-	NC_000017.11:g.63314397C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro317Ser	rs373599249	missense variant	-	NC_000017.11:g.63314399C>T	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Pro317Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63314400C>T	NCI-TCGA
TANC2	Q9HCD6	p.Pro317Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63314399C>A	NCI-TCGA
TANC2	Q9HCD6	p.Arg319Thr	rs1450050054	missense variant	-	NC_000017.11:g.63314406G>C	gnomAD
TANC2	Q9HCD6	p.Pro321Ala	rs188282938	missense variant	-	NC_000017.11:g.63314411C>G	1000Genomes
TANC2	Q9HCD6	p.Asp322Gly	rs756181350	missense variant	-	NC_000017.11:g.63314415A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile323Thr	rs764122149	missense variant	-	NC_000017.11:g.63314418T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile323Val	COSM6147668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63314417A>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Pro327Ala	rs565290187	missense variant	-	NC_000017.11:g.63314429C>G	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Val332Met	rs575715567	missense variant	-	NC_000017.11:g.63314444G>A	1000Genomes
TANC2	Q9HCD6	p.Pro333Arg	rs779994723	missense variant	-	NC_000017.11:g.63314448C>G	ExAC
TANC2	Q9HCD6	p.Ile335Val	rs754837305	missense variant	-	NC_000017.11:g.63314453A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile335Met	rs781229986	missense variant	-	NC_000017.11:g.63314455C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr336Ile	rs1308322956	missense variant	-	NC_000017.11:g.63314457C>T	gnomAD
TANC2	Q9HCD6	p.Glu338Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63314462G>T	NCI-TCGA
TANC2	Q9HCD6	p.Glu338Gln	COSM3820169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63314462G>C	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Phe341Ser	COSM982516	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63314472T>C	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg344Gln	rs749094947	missense variant	-	NC_000017.11:g.63314481G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Trp346Arg	rs772644087	missense variant	-	NC_000017.11:g.63314486T>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Phe348Tyr	rs367733202	missense variant	-	NC_000017.11:g.63314493T>A	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Glu350Lys	rs773996052	missense variant	-	NC_000017.11:g.63314498G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile351Thr	rs887084046	missense variant	-	NC_000017.11:g.63314502T>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp352Val	rs759835968	missense variant	-	NC_000017.11:g.63314505A>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp352Glu	rs767889438	missense variant	-	NC_000017.11:g.63314506T>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala353Val	rs1397456251	missense variant	-	NC_000017.11:g.63314508C>T	TOPMed
TANC2	Q9HCD6	p.Gln354His	rs776036126	missense variant	-	NC_000017.11:g.63314512A>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln356Lys	rs1190283777	missense variant	-	NC_000017.11:g.63314516C>A	gnomAD
TANC2	Q9HCD6	p.Ser357Ile	rs761135261	missense variant	-	NC_000017.11:g.63314520G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser357Asn	rs761135261	missense variant	-	NC_000017.11:g.63314520G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser358Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63314522T>C	NCI-TCGA
TANC2	Q9HCD6	p.Asn359Ser	rs764221772	missense variant	-	NC_000017.11:g.63314526A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala360Thr	rs1168683428	missense variant	-	NC_000017.11:g.63314528G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser361Thr	rs1391576299	missense variant	-	NC_000017.11:g.63314532G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Val362Met	rs757422430	missense variant	-	NC_000017.11:g.63314534G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val366Ile	rs750699899	missense variant	-	NC_000017.11:g.63314546G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val367Leu	rs774309244	missense variant	-	NC_000017.11:g.63314549G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val367Ala	COSM5178865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63314550T>C	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Val367Met	rs774309244	missense variant	-	NC_000017.11:g.63314549G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile368Val	rs1298452004	missense variant	-	NC_000017.11:g.63314552A>G	gnomAD
TANC2	Q9HCD6	p.Val369Met	rs756060797	missense variant	-	NC_000017.11:g.63314555G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly370Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63314559G>A	NCI-TCGA
TANC2	Q9HCD6	p.Asn371Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63314562A>G	NCI-TCGA
TANC2	Q9HCD6	p.Ala378Gly	rs1461277488	missense variant	-	NC_000017.11:g.63314583C>G	gnomAD
TANC2	Q9HCD6	p.Ile379Val	rs150364213	missense variant	-	NC_000017.11:g.63314585A>G	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile380Val	rs964160016	missense variant	-	NC_000017.11:g.63314588A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu386Val	rs745560986	missense variant	-	NC_000017.11:g.63314606C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser387Asn	rs775775457	missense variant	-	NC_000017.11:g.63314610G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.His389Arg	rs1170607520	missense variant	-	NC_000017.11:g.63314616A>G	gnomAD
TANC2	Q9HCD6	p.Gly390Arg	rs1450898417	missense variant	-	NC_000017.11:g.63314618G>C	TOPMed
TANC2	Q9HCD6	p.Thr391Arg	rs761240810	missense variant	-	NC_000017.11:g.63314622C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Met393Leu	rs1321266433	missense variant	-	NC_000017.11:g.63314627A>T	gnomAD
TANC2	Q9HCD6	p.Ala397Ser	rs1295212416	missense variant	-	NC_000017.11:g.63314639G>T	gnomAD
TANC2	Q9HCD6	p.Ala397Thr	COSM982518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63314639G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ala397Val	rs1334014676	missense variant	-	NC_000017.11:g.63314640C>T	TOPMed
TANC2	Q9HCD6	p.Asp399Gly	rs369559231	missense variant	-	NC_000017.11:g.63314646A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro401Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63314651C>G	NCI-TCGA
TANC2	Q9HCD6	p.Pro401Leu	COSM3520596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63314652C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Pro405Arg	rs765441426	missense variant	-	NC_000017.11:g.63314664C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro405His	rs765441426	missense variant	-	NC_000017.11:g.63314664C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro405Ala	rs1323407265	missense variant	-	NC_000017.11:g.63314663C>G	gnomAD
TANC2	Q9HCD6	p.His407Tyr	rs372517614	missense variant	-	NC_000017.11:g.63314669C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.His407Asn	rs372517614	missense variant	-	NC_000017.11:g.63314669C>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val408Met	rs1184703786	missense variant	-	NC_000017.11:g.63318959G>A	TOPMed
TANC2	Q9HCD6	p.Asp409Val	rs200724320	missense variant	-	NC_000017.11:g.63318963A>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp409Gly	rs200724320	missense variant	-	NC_000017.11:g.63318963A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp409Asn	rs769969806	missense variant	-	NC_000017.11:g.63318962G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn411Tyr	rs763259864	missense variant	-	NC_000017.11:g.63318968A>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn411Ile	rs1418458184	missense variant	-	NC_000017.11:g.63318969A>T	gnomAD
TANC2	Q9HCD6	p.Glu413Asp	rs766443905	missense variant	-	NC_000017.11:g.63318976G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu416Pro	rs1365191835	missense variant	-	NC_000017.11:g.63318984T>C	gnomAD
TANC2	Q9HCD6	p.Leu416Phe	rs763979750	missense variant	-	NC_000017.11:g.63318983C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr417Ser	rs577705394	missense variant	-	NC_000017.11:g.63318986A>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr417Ala	rs577705394	missense variant	-	NC_000017.11:g.63318986A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro419Leu	rs1371758873	missense variant	-	NC_000017.11:g.63318993C>T	gnomAD
TANC2	Q9HCD6	p.Pro420Arg	rs778390901	missense variant	-	NC_000017.11:g.63318996C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser421Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63318999C>T	NCI-TCGA
TANC2	Q9HCD6	p.Ala422Val	rs749869278	missense variant	-	NC_000017.11:g.63319002C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.His423Leu	rs376018871	missense variant	-	NC_000017.11:g.63319005A>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser424Leu	rs369292271	missense variant	-	NC_000017.11:g.63319008C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile426Val	rs753217237	missense variant	-	NC_000017.11:g.63319013A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser428Asn	rs768874285	missense variant	-	NC_000017.11:g.63319020G>A	ExAC
TANC2	Q9HCD6	p.Thr434Ala	COSM3520598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63319037A>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Pro435Leu	rs1386169242	missense variant	-	NC_000017.11:g.63319041C>T	TOPMed
TANC2	Q9HCD6	p.Glu436Lys	COSM706519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63319043G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg438Cys	rs1480252971	missense variant	-	NC_000017.11:g.63319049C>T	gnomAD
TANC2	Q9HCD6	p.Arg438Leu	rs770485904	missense variant	-	NC_000017.11:g.63319050G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg438His	rs770485904	missense variant	-	NC_000017.11:g.63319050G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg440Trp	rs199541150	missense variant	-	NC_000017.11:g.63319055C>T	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg440Gln	rs778411760	missense variant	-	NC_000017.11:g.63319056G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln441Lys	rs1250494970	missense variant	-	NC_000017.11:g.63319058C>A	TOPMed
TANC2	Q9HCD6	p.Glu442Asp	COSM3692009	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63319063G>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Met445Val	rs774394103	missense variant	-	NC_000017.11:g.63319070A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Met445Ile	rs1170839144	missense variant	-	NC_000017.11:g.63319072G>A	gnomAD
TANC2	Q9HCD6	p.Arg446Gly	rs1353171827	missense variant	-	NC_000017.11:g.63319073C>G	gnomAD
TANC2	Q9HCD6	p.Arg446Ter	COSM5138367	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63319073C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg446Gln	rs202242128	missense variant	-	NC_000017.11:g.63319074G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu448Pro	rs554015043	missense variant	-	NC_000017.11:g.63319080T>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala449Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63319083C>T	NCI-TCGA
TANC2	Q9HCD6	p.Ser450Leu	rs750275507	missense variant	-	NC_000017.11:g.63319086C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Val452Leu	rs1321365646	missense variant	-	NC_000017.11:g.63340101G>C	gnomAD
TANC2	Q9HCD6	p.Val453Ile	rs773104858	missense variant	-	NC_000017.11:g.63340104G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala454Val	rs763000493	missense variant	-	NC_000017.11:g.63340108C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr455Cys	rs376257499	missense variant	-	NC_000017.11:g.63340111A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr457Ser	rs745539155	missense variant	-	NC_000017.11:g.63340117A>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr457Cys	rs745539155	missense variant	-	NC_000017.11:g.63340117A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp461Glu	rs1475194628	missense variant	-	NC_000017.11:g.63340130T>A	gnomAD
TANC2	Q9HCD6	p.Asn462Ser	rs1192176613	missense variant	-	NC_000017.11:g.63340132A>G	gnomAD
TANC2	Q9HCD6	p.Pro469Leu	rs1379360999	missense variant	-	NC_000017.11:g.63340153C>T	TOPMed
TANC2	Q9HCD6	p.His473Arg	rs1176260039	missense variant	-	NC_000017.11:g.63340165A>G	gnomAD
TANC2	Q9HCD6	p.Asn474Ser	rs886689708	missense variant	-	NC_000017.11:g.63340168A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Val475Ile	rs752419482	missense variant	-	NC_000017.11:g.63340170G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu479Phe	rs1343347708	missense variant	-	NC_000017.11:g.63340182C>T	gnomAD
TANC2	Q9HCD6	p.Arg481His	rs200481329	missense variant	-	NC_000017.11:g.63340189G>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg481Leu	rs200481329	missense variant	-	NC_000017.11:g.63340189G>T	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg481Cys	rs757851333	missense variant	-	NC_000017.11:g.63340188C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser482Pro	rs1016421071	missense variant	-	NC_000017.11:g.63340191T>C	TOPMed
TANC2	Q9HCD6	p.Pro483Leu	rs745904981	missense variant	-	NC_000017.11:g.63340195C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro483Arg	rs745904981	missense variant	-	NC_000017.11:g.63340195C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln484His	rs772164592	missense variant	-	NC_000017.11:g.63340199G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln484Arg	rs1221110322	missense variant	-	NC_000017.11:g.63340198A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln484Pro	rs1221110322	missense variant	-	NC_000017.11:g.63340198A>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg489Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63340213G>A	NCI-TCGA
TANC2	Q9HCD6	p.Glu490Asp	rs1222518321	missense variant	-	NC_000017.11:g.63340217G>C	gnomAD
TANC2	Q9HCD6	p.Leu492His	rs1271505862	missense variant	-	NC_000017.11:g.63340222T>A	gnomAD
TANC2	Q9HCD6	p.Leu493Phe	rs1489982477	missense variant	-	NC_000017.11:g.63340224C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu493Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63340224C>G	NCI-TCGA
TANC2	Q9HCD6	p.Leu493Ile	COSM982520	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63340224C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg494Trp	rs746776222	missense variant	-	NC_000017.11:g.63340227C>T	TOPMed
TANC2	Q9HCD6	p.Arg494Gln	rs780211899	missense variant	-	NC_000017.11:g.63340228G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg494Gly	rs746776222	missense variant	-	NC_000017.11:g.63340227C>G	TOPMed
TANC2	Q9HCD6	p.Glu495Lys	rs747276639	missense variant	-	NC_000017.11:g.63340230G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu495Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63340230G>T	NCI-TCGA
TANC2	Q9HCD6	p.His497Tyr	rs189418855	missense variant	-	NC_000017.11:g.63340236C>T	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.His497Asn	rs189418855	missense variant	-	NC_000017.11:g.63340236C>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu498Val	rs762791990	missense variant	-	NC_000017.11:g.63340239C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser500Asn	rs1237656513	missense variant	-	NC_000017.11:g.63340246G>A	TOPMed
TANC2	Q9HCD6	p.Met501Ile	rs770832810	missense variant	-	NC_000017.11:g.63340250G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu504Val	rs759037186	missense variant	-	NC_000017.11:g.63340257C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg505Cys	rs767165738	missense variant	-	NC_000017.11:g.63340260C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg505His	rs752366326	missense variant	-	NC_000017.11:g.63340261G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro511Thr	rs764550479	missense variant	-	NC_000017.11:g.63340278C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro511Arg	rs754165842	missense variant	-	NC_000017.11:g.63340279C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Met512Val	rs199687343	missense variant	-	NC_000017.11:g.63340281A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Met512Leu	rs199687343	missense variant	-	NC_000017.11:g.63340281A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Met512Lys	rs1298564410	missense variant	-	NC_000017.11:g.63340282T>A	TOPMed
TANC2	Q9HCD6	p.Ala513Val	rs750928211	missense variant	-	NC_000017.11:g.63340285C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser514Phe	rs1383716664	missense variant	-	NC_000017.11:g.63340288C>T	TOPMed
TANC2	Q9HCD6	p.Arg516Gln	rs140111765	missense variant	-	NC_000017.11:g.63340294G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg516Trp	rs552429950	missense variant	-	NC_000017.11:g.63340293C>T	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg517Met	rs768930153	missense variant	-	NC_000017.11:g.63340297G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val519Ile	rs1252944140	missense variant	-	NC_000017.11:g.63340302G>A	gnomAD
TANC2	Q9HCD6	p.Leu520Met	COSM982522	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63340305C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Glu521Gly	rs1245874300	missense variant	-	NC_000017.11:g.63340309A>G	gnomAD
TANC2	Q9HCD6	p.Glu524Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63340317G>A	NCI-TCGA
TANC2	Q9HCD6	p.Asn525Asp	rs966639090	missense variant	-	NC_000017.11:g.63340320A>G	TOPMed
TANC2	Q9HCD6	p.Leu526Ile	rs749051087	missense variant	-	NC_000017.11:g.63340323C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.His527Tyr	rs770650572	missense variant	-	NC_000017.11:g.63340326C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Lys528Arg	rs1195701426	missense variant	-	NC_000017.11:g.63340330A>G	TOPMed
TANC2	Q9HCD6	p.Asp536Tyr	rs780099779	missense variant	-	NC_000017.11:g.63351270G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Phe537Leu	rs1167087436	missense variant	-	NC_000017.11:g.63351275C>G	gnomAD
TANC2	Q9HCD6	p.Ile538Asn	rs751568613	missense variant	-	NC_000017.11:g.63351277T>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile539Val	rs755062134	missense variant	-	NC_000017.11:g.63351279A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu540Ser	rs1338809536	missense variant	-	NC_000017.11:g.63351283T>C	gnomAD
TANC2	Q9HCD6	p.Ile541Thr	rs987148166	missense variant	-	NC_000017.11:g.63351286T>C	TOPMed
TANC2	Q9HCD6	p.Leu544Val	rs912986449	missense variant	-	NC_000017.11:g.63351294T>G	TOPMed
TANC2	Q9HCD6	p.Glu546Ala	rs1403928856	missense variant	-	NC_000017.11:g.63351301A>C	gnomAD
TANC2	Q9HCD6	p.Lys551Asn	rs748348737	missense variant	-	NC_000017.11:g.63351317A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro552Leu	rs1323343392	missense variant	-	NC_000017.11:g.63351319C>T	gnomAD
TANC2	Q9HCD6	p.Pro552Ala	rs1328411559	missense variant	-	NC_000017.11:g.63351318C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp553Tyr	COSM437095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63351321G>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Tyr554Cys	rs1269945617	missense variant	-	NC_000017.11:g.63351325A>G	gnomAD
TANC2	Q9HCD6	p.Tyr554His	rs368614050	missense variant	-	NC_000017.11:g.63351324T>C	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile558Val	rs372829353	missense variant	-	NC_000017.11:g.63351336A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val559Leu	rs201947596	missense variant	-	NC_000017.11:g.63351339G>C	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser560Leu	rs775581769	missense variant	-	NC_000017.11:g.63351343C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu562Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63351349T>C	NCI-TCGA
TANC2	Q9HCD6	p.Ser563Asn	rs1263473049	missense variant	-	NC_000017.11:g.63351352G>A	gnomAD
TANC2	Q9HCD6	p.Lys564Glu	rs768083183	missense variant	-	NC_000017.11:g.63351354A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Lys564Gln	rs768083183	missense variant	-	NC_000017.11:g.63351354A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Met565Ile	COSM3520600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63351359G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Gly567Arg	rs371685807	missense variant	-	NC_000017.11:g.63351363G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile576Thr	rs752081450	missense variant	-	NC_000017.11:g.63351391T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile576Leu	rs766809764	missense variant	-	NC_000017.11:g.63351390A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Val577Leu	rs978474288	missense variant	-	NC_000017.11:g.63351393G>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Val577Leu	rs978474288	missense variant	-	NC_000017.11:g.63351393G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg580Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63351403G>A	NCI-TCGA
TANC2	Q9HCD6	p.Thr581Asn	rs376258048	missense variant	-	NC_000017.11:g.63351406C>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr587Ile	rs760007485	missense variant	-	NC_000017.11:g.63354790C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro591Leu	rs752785799	missense variant	-	NC_000017.11:g.63354802C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Phe592Leu	rs764173544	missense variant	-	NC_000017.11:g.63354806C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Phe592Leu	rs745661784	missense variant	-	NC_000017.11:g.63354804T>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.His593Tyr	rs754146581	missense variant	-	NC_000017.11:g.63354807C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.His593Arg	rs369730989	missense variant	-	NC_000017.11:g.63354808A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile595Val	rs1376199676	missense variant	-	NC_000017.11:g.63354813A>G	TOPMed
TANC2	Q9HCD6	p.Phe596Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63354816T>G	NCI-TCGA
TANC2	Q9HCD6	p.Leu597Phe	rs751532229	missense variant	-	NC_000017.11:g.63354821G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu597PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63354813_63354814insT	NCI-TCGA
TANC2	Q9HCD6	p.Leu597TrpPheSerTerUnk	COSM4732099	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63354814T>-	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg599Gln	rs754942145	missense variant	-	NC_000017.11:g.63354826G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg599Ter	COSM982528	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63354825C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Glu601Lys	rs1049324972	missense variant	-	NC_000017.11:g.63354831G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu602Gly	rs1181153697	missense variant	-	NC_000017.11:g.63354835A>G	gnomAD
TANC2	Q9HCD6	p.Glu602Asp	COSM4817594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63354836G>C	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Glu602Lys	rs1417474251	missense variant	-	NC_000017.11:g.63354834G>A	gnomAD
TANC2	Q9HCD6	p.Asn603Lys	rs769364345	missense variant	-	NC_000017.11:g.63354839T>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn603Ser	rs1420750947	missense variant	-	NC_000017.11:g.63354838A>G	TOPMed
TANC2	Q9HCD6	p.Glu604Lys	rs1426745981	missense variant	-	NC_000017.11:g.63354840G>A	gnomAD
TANC2	Q9HCD6	p.Ile606Val	rs748976038	missense variant	-	NC_000017.11:g.63354846A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp607Glu	rs1389203603	missense variant	-	NC_000017.11:g.63354851C>G	gnomAD
TANC2	Q9HCD6	p.Gln608Lys	rs1462951631	missense variant	-	NC_000017.11:g.63354852C>A	gnomAD
TANC2	Q9HCD6	p.Gln611His	rs904668924	missense variant	-	NC_000017.11:g.63354863G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln611Leu	rs889410804	missense variant	-	NC_000017.11:g.63354862A>T	TOPMed
TANC2	Q9HCD6	p.Gln611Arg	rs889410804	missense variant	-	NC_000017.11:g.63354862A>G	TOPMed
TANC2	Q9HCD6	p.Ala612Ser	rs1315099816	missense variant	-	NC_000017.11:g.63354864G>T	gnomAD
TANC2	Q9HCD6	p.Ala612Val	rs772405958	missense variant	-	NC_000017.11:g.63354865C>T	TOPMed
TANC2	Q9HCD6	p.Tyr613Cys	rs774753696	missense variant	-	NC_000017.11:g.63354868A>G	ExAC
TANC2	Q9HCD6	p.Tyr613Phe	rs774753696	missense variant	-	NC_000017.11:g.63354868A>T	ExAC
TANC2	Q9HCD6	p.Arg617Gln	rs1314125287	missense variant	-	NC_000017.11:g.63354880G>A	gnomAD
TANC2	Q9HCD6	p.Arg617Trp	rs1243256124	missense variant	-	NC_000017.11:g.63354879C>T	gnomAD
TANC2	Q9HCD6	p.Ile618Thr	rs1307789486	missense variant	-	NC_000017.11:g.63354883T>C	gnomAD
TANC2	Q9HCD6	p.His619Tyr	rs772391568	missense variant	-	NC_000017.11:g.63354885C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser620Asn	rs1040557152	missense variant	-	NC_000017.11:g.63354889G>A	TOPMed
TANC2	Q9HCD6	p.Asn626Ser	rs776087632	missense variant	-	NC_000017.11:g.63354907A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu630Phe	rs760632609	missense variant	-	NC_000017.11:g.63354918C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly632Ser	rs1198128795	missense variant	-	NC_000017.11:g.63354924G>A	gnomAD
TANC2	Q9HCD6	p.Asp635Gly	rs764311284	missense variant	-	NC_000017.11:g.63354934A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Asn636Ser	rs900881419	missense variant	-	NC_000017.11:g.63354937A>G	gnomAD
TANC2	Q9HCD6	p.Thr637Ser	rs1413342918	missense variant	-	NC_000017.11:g.63354940C>G	gnomAD
TANC2	Q9HCD6	p.Thr637Ala	rs1181909409	missense variant	-	NC_000017.11:g.63354939A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr638Ala	rs754093229	missense variant	-	NC_000017.11:g.63354942A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly640Ser	rs1290596101	missense variant	-	NC_000017.11:g.63354948G>A	TOPMed
TANC2	Q9HCD6	p.Gly640AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63354948G>-	NCI-TCGA
TANC2	Q9HCD6	p.Lys641Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63354951A>G	NCI-TCGA
TANC2	Q9HCD6	p.Leu642Pro	rs1172961674	missense variant	-	NC_000017.11:g.63354955T>C	gnomAD
TANC2	Q9HCD6	p.Ser644Phe	rs1353310697	missense variant	-	NC_000017.11:g.63354961C>T	gnomAD
TANC2	Q9HCD6	p.Lys647Arg	rs371351174	missense variant	-	NC_000017.11:g.63354970A>G	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Thr648Ser	rs766274909	missense variant	-	NC_000017.11:g.63354972A>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr648Ala	rs766274909	missense variant	-	NC_000017.11:g.63354972A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser653Ala	rs754811517	missense variant	-	NC_000017.11:g.63354987T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr654Cys	rs997966810	missense variant	-	NC_000017.11:g.63354991A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu655Ile	COSM982532	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63354993C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Leu657Met	rs1014962425	missense variant	-	NC_000017.11:g.63354999C>A	TOPMed
TANC2	Q9HCD6	p.Leu657SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63354997_63354998insT	NCI-TCGA
TANC2	Q9HCD6	p.Thr660Ile	rs777311411	missense variant	-	NC_000017.11:g.63355009C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu663Ile	rs748924735	missense variant	-	NC_000017.11:g.63355017C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile664Arg	rs1433118812	missense variant	-	NC_000017.11:g.63355021T>G	gnomAD
TANC2	Q9HCD6	p.Gly667Ser	rs778542030	missense variant	-	NC_000017.11:g.63355029G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr668Cys	rs772518691	missense variant	-	NC_000017.11:g.63355033A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr668Phe	rs772518691	missense variant	-	NC_000017.11:g.63355033A>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Val670Leu	COSM4930813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63355038G>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser674Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63355051C>G	NCI-TCGA
TANC2	Q9HCD6	p.Val678Ile	rs1296754851	missense variant	-	NC_000017.11:g.63355062G>A	TOPMed
TANC2	Q9HCD6	p.Val678Ala	rs761295874	missense variant	-	NC_000017.11:g.63355063T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Val679Leu	rs768846086	missense variant	-	NC_000017.11:g.63355065G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Val679Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63355065G>A	NCI-TCGA
TANC2	Q9HCD6	p.Ser682Leu	rs776921699	missense variant	-	NC_000017.11:g.63355075C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu685Lys	COSM4849028	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63355083G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Met693Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63355109G>T	NCI-TCGA
TANC2	Q9HCD6	p.Lys694Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63355110A>T	NCI-TCGA
TANC2	Q9HCD6	p.Phe695Leu	rs1477788468	missense variant	-	NC_000017.11:g.63355115C>A	gnomAD
TANC2	Q9HCD6	p.Pro696Ser	COSM5747884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63355116C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser699Phe	COSM706515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63355126C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser700Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63355129C>T	NCI-TCGA
TANC2	Q9HCD6	p.Ser700Ala	rs1164849683	missense variant	-	NC_000017.11:g.63355128T>G	TOPMed
TANC2	Q9HCD6	p.Arg703Trp	rs1432072520	missense variant	-	NC_000017.11:g.63355137C>T	gnomAD
TANC2	Q9HCD6	p.Val704Glu	rs1335463551	missense variant	-	NC_000017.11:g.63355141T>A	gnomAD
TANC2	Q9HCD6	p.Met705Ile	rs377236602	missense variant	-	NC_000017.11:g.63355145G>T	ESP,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro706Leu	rs759208072	missense variant	-	NC_000017.11:g.63355147C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu707Ile	rs1163706857	missense variant	-	NC_000017.11:g.63355149C>A	TOPMed
TANC2	Q9HCD6	p.Pro717Ala	rs752552645	missense variant	-	NC_000017.11:g.63355179C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu718Val	rs756100541	missense variant	-	NC_000017.11:g.63355182C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr719Ser	rs1285178130	missense variant	-	NC_000017.11:g.63355186C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu721Asp	rs753277402	missense variant	-	NC_000017.11:g.63355193G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu721Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63355191G>C	NCI-TCGA
TANC2	Q9HCD6	p.His722Arg	rs756772718	missense variant	-	NC_000017.11:g.63355195A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile723Val	rs1223831328	missense variant	-	NC_000017.11:g.63355197A>G	TOPMed
TANC2	Q9HCD6	p.Ala726Val	rs1319965956	missense variant	-	NC_000017.11:g.63355207C>T	TOPMed
TANC2	Q9HCD6	p.Asn728Lys	rs1240724155	missense variant	-	NC_000017.11:g.63355214T>A	gnomAD
TANC2	Q9HCD6	p.Asn728Ser	rs61743014	missense variant	-	NC_000017.11:g.63355213A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly730Val	rs370145697	missense variant	-	NC_000017.11:g.63355219G>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser731Asn	rs933921170	missense variant	-	NC_000017.11:g.63355222G>A	TOPMed
TANC2	Q9HCD6	p.Thr735Lys	rs1218472984	missense variant	-	NC_000017.11:g.63355234C>A	TOPMed
TANC2	Q9HCD6	p.Leu736Val	rs780527488	missense variant	-	NC_000017.11:g.63355236C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Trp738Ser	rs540526600	missense variant	-	NC_000017.11:g.63355243G>C	1000Genomes
TANC2	Q9HCD6	p.Asp740Val	rs1295844451	missense variant	-	NC_000017.11:g.63355249A>T	TOPMed
TANC2	Q9HCD6	p.Gln743Arg	rs747469714	missense variant	-	NC_000017.11:g.63355258A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln743Leu	rs747469714	missense variant	-	NC_000017.11:g.63355258A>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Met750Val	rs1347559756	missense variant	-	NC_000017.11:g.63355278A>G	TOPMed
TANC2	Q9HCD6	p.Met750Ile	rs748185878	missense variant	-	NC_000017.11:g.63355280G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Met750Thr	rs1324650049	missense variant	-	NC_000017.11:g.63355279T>C	TOPMed
TANC2	Q9HCD6	p.Phe751Leu	rs374748633	missense variant	-	NC_000017.11:g.63355283C>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Phe751Leu	rs374748633	missense variant	-	NC_000017.11:g.63355283C>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg755His	rs775421108	missense variant	-	NC_000017.11:g.63355294G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg755Cys	rs767201600	missense variant	-	NC_000017.11:g.63355293C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg755Leu	rs775421108	missense variant	-	NC_000017.11:g.63355294G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp757Gly	rs760467526	missense variant	-	NC_000017.11:g.63355300A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Met758Ile	rs1427752221	missense variant	-	NC_000017.11:g.63355304G>A	TOPMed
TANC2	Q9HCD6	p.Thr759Ala	rs763961124	missense variant	-	NC_000017.11:g.63355305A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr759Ser	rs1425650144	missense variant	-	NC_000017.11:g.63355306C>G	TOPMed
TANC2	Q9HCD6	p.Arg760Cys	rs1282488329	missense variant	-	NC_000017.11:g.63355308C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg760His	rs1353225798	missense variant	-	NC_000017.11:g.63355309G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Phe762Ser	rs753804707	missense variant	-	NC_000017.11:g.63355315T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Val763Leu	rs1252383302	missense variant	-	NC_000017.11:g.63355317G>T	TOPMed
TANC2	Q9HCD6	p.His764Tyr	rs1490007629	missense variant	-	NC_000017.11:g.63355320C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro765Thr	rs1198699390	missense variant	-	NC_000017.11:g.63355323C>A	gnomAD
TANC2	Q9HCD6	p.Arg768Gln	rs1234920001	missense variant	-	NC_000017.11:g.63355333G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu769Asp	COSM982536	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63355337A>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Leu771Phe	rs764852217	missense variant	-	NC_000017.11:g.63355341C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu776Gly	rs762313677	missense variant	-	NC_000017.11:g.63355357A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys779Glu	rs367715498	missense variant	-	NC_000017.11:g.63355365A>G	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Thr780Ile	rs758139432	missense variant	-	NC_000017.11:g.63355369C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr780Pro	rs1165266140	missense variant	-	NC_000017.11:g.63355368A>C	gnomAD
TANC2	Q9HCD6	p.Leu783Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63355377C>A	NCI-TCGA
TANC2	Q9HCD6	p.Thr791Met	rs761798342	missense variant	-	NC_000017.11:g.63379729C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu793Phe	rs1194313825	missense variant	-	NC_000017.11:g.63379734C>T	TOPMed
TANC2	Q9HCD6	p.Ala794Ser	rs1455681172	missense variant	-	NC_000017.11:g.63379737G>T	TOPMed
TANC2	Q9HCD6	p.Phe795Val	rs762386059	missense variant	-	NC_000017.11:g.63379740T>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser798Pro	COSM982538	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63379749T>C	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Gln800Arg	rs1461430188	missense variant	-	NC_000017.11:g.63379756A>G	gnomAD
TANC2	Q9HCD6	p.Glu801Ala	rs766010730	missense variant	-	NC_000017.11:g.63379759A>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly802Glu	rs1240941420	missense variant	-	NC_000017.11:g.63379762G>A	gnomAD
TANC2	Q9HCD6	p.Arg806Gln	rs1322854387	missense variant	-	NC_000017.11:g.63379774G>A	gnomAD
TANC2	Q9HCD6	p.Thr809Ala	rs1194483156	missense variant	-	NC_000017.11:g.63379782A>G	TOPMed
TANC2	Q9HCD6	p.Gly813Ter	COSM1385118	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63379794G>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Gly813Val	COSM1385120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63379795G>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.His815Tyr	rs755359691	missense variant	-	NC_000017.11:g.63379800C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile816Asn	rs1374531122	missense variant	-	NC_000017.11:g.63379804T>A	gnomAD
TANC2	Q9HCD6	p.Ala819Val	rs1429894558	missense variant	-	NC_000017.11:g.63379813C>T	gnomAD
TANC2	Q9HCD6	p.Phe822Cys	COSM982540	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63379822T>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Val829Ile	rs1298570048	missense variant	-	NC_000017.11:g.63388650G>A	gnomAD
TANC2	Q9HCD6	p.Gly830Cys	rs1051009862	missense variant	-	NC_000017.11:g.63388653G>T	gnomAD
TANC2	Q9HCD6	p.Gly830Arg	rs1051009862	missense variant	-	NC_000017.11:g.63388653G>C	gnomAD
TANC2	Q9HCD6	p.Val831Ile	rs368953403	missense variant	-	NC_000017.11:g.63388656G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser833Thr	rs1215672933	missense variant	-	NC_000017.11:g.63388662T>A	gnomAD
TANC2	Q9HCD6	p.Leu839Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63388680C>A	NCI-TCGA
TANC2	Q9HCD6	p.Trp840Leu	COSM1385122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63388684G>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser842Phe	rs186712546	missense variant	-	NC_000017.11:g.63388690C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr843His	rs1197110814	missense variant	-	NC_000017.11:g.63388692T>C	gnomAD
TANC2	Q9HCD6	p.Tyr843Cys	rs1266586082	missense variant	-	NC_000017.11:g.63388693A>G	gnomAD
TANC2	Q9HCD6	p.Ser844Thr	rs756447567	missense variant	-	NC_000017.11:g.63388696G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr845Ala	rs376827865	missense variant	-	NC_000017.11:g.63388698A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu846Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63388703A>T	NCI-TCGA
TANC2	Q9HCD6	p.Gly847Val	rs754333999	missense variant	-	NC_000017.11:g.63388705G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly847Asp	rs754333999	missense variant	-	NC_000017.11:g.63388705G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu848Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63388707C>A	NCI-TCGA
TANC2	Q9HCD6	p.Ser849Phe	rs1486953581	missense variant	-	NC_000017.11:g.63388711C>T	gnomAD
TANC2	Q9HCD6	p.Ser849Pro	rs757337752	missense variant	-	NC_000017.11:g.63388710T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Met850Val	rs1427114150	missense variant	-	NC_000017.11:g.63388713A>G	gnomAD
TANC2	Q9HCD6	p.Ala851Thr	rs746084906	missense variant	-	NC_000017.11:g.63388716G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala851Val	rs1390622075	missense variant	-	NC_000017.11:g.63388717C>T	gnomAD
TANC2	Q9HCD6	p.Leu852Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63388719C>G	NCI-TCGA
TANC2	Q9HCD6	p.Ala853Val	COSM4068519	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63388723C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ala853Thr	rs1368771075	missense variant	-	NC_000017.11:g.63388722G>A	TOPMed
TANC2	Q9HCD6	p.Ala853Glu	rs1189333667	missense variant	-	NC_000017.11:g.63388723C>A	gnomAD
TANC2	Q9HCD6	p.Arg856Gln	rs968360568	missense variant	-	NC_000017.11:g.63388732G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg856Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63388731C>T	NCI-TCGA
TANC2	Q9HCD6	p.Leu858Ile	COSM982544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63388737C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Tyr859Cys	rs1374227177	missense variant	-	NC_000017.11:g.63388741A>G	gnomAD
TANC2	Q9HCD6	p.Tyr859LeuPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000017.11:g.63388740_63388741insTAAATTCAAGTTACTAAATTAC	NCI-TCGA
TANC2	Q9HCD6	p.Pro861Gln	COSM277590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63388747C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ile863Thr	rs1238900314	missense variant	-	NC_000017.11:g.63388753T>C	gnomAD
TANC2	Q9HCD6	p.Arg867Ter	rs765735295	stop gained	-	NC_000017.11:g.63389314C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg867Gln	rs1244021783	missense variant	-	NC_000017.11:g.63389315G>A	gnomAD
TANC2	Q9HCD6	p.Ile870Val	COSM4068521	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63389323A>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ala874Thr	rs1180504890	missense variant	-	NC_000017.11:g.63389335G>A	gnomAD
TANC2	Q9HCD6	p.Ile876Thr	rs750442027	missense variant	-	NC_000017.11:g.63389342T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr878His	rs1251262612	missense variant	-	NC_000017.11:g.63389347T>C	TOPMed
TANC2	Q9HCD6	p.Arg879Gln	rs780205720	missense variant	-	NC_000017.11:g.63389351G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg879Trp	rs758492232	missense variant	-	NC_000017.11:g.63389350C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr880Ile	rs1308796802	missense variant	-	NC_000017.11:g.63389354C>T	gnomAD
TANC2	Q9HCD6	p.Val882Leu	rs755919425	missense variant	-	NC_000017.11:g.63389359G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu883Ser	rs915741295	missense variant	-	NC_000017.11:g.63389363T>C	TOPMed
TANC2	Q9HCD6	p.Asn885Ser	rs777491096	missense variant	-	NC_000017.11:g.63389369A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro887Ser	rs770927486	missense variant	-	NC_000017.11:g.63389374C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile888Val	rs774444805	missense variant	-	NC_000017.11:g.63389377A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu889Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63389380C>A	NCI-TCGA
TANC2	Q9HCD6	p.Cys890Ser	rs775177337	missense variant	-	NC_000017.11:g.63389384G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly896Arg	rs760301830	missense variant	-	NC_000017.11:g.63389401G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly896Ser	rs760301830	missense variant	-	NC_000017.11:g.63389401G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr898Ile	rs776792236	missense variant	-	NC_000017.11:g.63389408C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr898Pro	rs764514238	missense variant	-	NC_000017.11:g.63389407A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu899Asp	rs377389715	missense variant	-	NC_000017.11:g.63389412A>T	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Met900Val	rs114552067	missense variant	-	NC_000017.11:g.63389413A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala902Gly	rs568898605	missense variant	-	NC_000017.11:g.63389420C>G	1000Genomes
TANC2	Q9HCD6	p.Leu903Pro	rs750956093	missense variant	-	NC_000017.11:g.63389423T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu905Arg	rs1261702349	missense variant	-	NC_000017.11:g.63389429T>G	gnomAD
TANC2	Q9HCD6	p.Phe907Leu	rs1045592537	missense variant	-	NC_000017.11:g.63389436C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly908Glu	rs766490830	missense variant	-	NC_000017.11:g.63389438G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly908Arg	rs758438804	missense variant	-	NC_000017.11:g.63389437G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala909Pro	rs751797493	missense variant	-	NC_000017.11:g.63389440G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Asn910Ser	rs1370792562	missense variant	-	NC_000017.11:g.63389444A>G	TOPMed
TANC2	Q9HCD6	p.Val911Met	rs781483616	missense variant	-	NC_000017.11:g.63389446G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val911Leu	rs781483616	missense variant	-	NC_000017.11:g.63389446G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala913Thr	rs757141249	missense variant	-	NC_000017.11:g.63389452G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala913Val	rs778954803	missense variant	-	NC_000017.11:g.63389453C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala913Ser	rs757141249	missense variant	-	NC_000017.11:g.63389452G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser914Ala	rs745840520	missense variant	-	NC_000017.11:g.63389455T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser914Phe	rs771694104	missense variant	-	NC_000017.11:g.63389456C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu916Lys	rs774928576	missense variant	-	NC_000017.11:g.63389461G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser917Gly	rs746532546	missense variant	-	NC_000017.11:g.63389464A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly918Asp	COSM982546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63389468G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Gly923Val	rs1171699651	missense variant	-	NC_000017.11:g.63389483G>T	TOPMed
TANC2	Q9HCD6	p.Tyr924Cys	rs1488255497	missense variant	-	NC_000017.11:g.63389486A>G	gnomAD
TANC2	Q9HCD6	p.Ala927Thr	rs1248959250	missense variant	-	NC_000017.11:g.63389494G>A	gnomAD
TANC2	Q9HCD6	p.Ala928Ser	COSM6147664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63389497G>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Tyr930His	rs1408309416	missense variant	-	NC_000017.11:g.63389503T>C	gnomAD
TANC2	Q9HCD6	p.Leu931Met	COSM3989214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63389506C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser932Asn	rs1417374551	missense variant	-	NC_000017.11:g.63389510G>A	TOPMed
TANC2	Q9HCD6	p.Ser932Cys	rs377542271	missense variant	-	NC_000017.11:g.63389509A>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile933Thr	rs759677685	missense variant	-	NC_000017.11:g.63389513T>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val934Ala	rs1325516043	missense variant	-	NC_000017.11:g.63389516T>C	gnomAD
TANC2	Q9HCD6	p.Val935Glu	rs1348029811	missense variant	-	NC_000017.11:g.63389519T>A	gnomAD
TANC2	Q9HCD6	p.Val935Met	COSM460271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63389518G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Leu936Val	COSM4068523	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63389521C>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Lys939Glu	rs1188866736	missense variant	-	NC_000017.11:g.63389530A>G	TOPMed
TANC2	Q9HCD6	p.Arg941Gln	rs371161191	missense variant	-	NC_000017.11:g.63389537G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg941Trp	rs1434453647	missense variant	-	NC_000017.11:g.63389536C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala942Thr	rs752996763	missense variant	-	NC_000017.11:g.63389539G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Lys943Glu	rs1242507216	missense variant	-	NC_000017.11:g.63389542A>G	gnomAD
TANC2	Q9HCD6	p.His946Asn	rs1396765568	missense variant	-	NC_000017.11:g.63395749C>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.His946Tyr	rs1396765568	missense variant	-	NC_000017.11:g.63395749C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu947Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63395752T>G	NCI-TCGA
TANC2	Q9HCD6	p.Leu947Phe	rs767677178	missense variant	-	NC_000017.11:g.63395754G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp948Ala	rs1287996037	missense variant	-	NC_000017.11:g.63395756A>C	TOPMed
TANC2	Q9HCD6	p.Asp948Asn	rs906902782	missense variant	-	NC_000017.11:g.63395755G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly951Arg	rs778414080	missense variant	-	NC_000017.11:g.63395764G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly951Arg	rs778414080	missense variant	-	NC_000017.11:g.63395764G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln952His	rs761043795	missense variant	-	NC_000017.11:g.63395769G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln952His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63395769G>T	NCI-TCGA
TANC2	Q9HCD6	p.Gln952Arg	rs1216292593	missense variant	-	NC_000017.11:g.63395768A>G	gnomAD
TANC2	Q9HCD6	p.Cys953Tyr	rs764415517	missense variant	-	NC_000017.11:g.63395771G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Cys953Phe	COSM437097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63395771G>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Val956Leu	rs1388353199	missense variant	-	NC_000017.11:g.63395779G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.His957Arg	rs1276056750	missense variant	-	NC_000017.11:g.63395783A>G	gnomAD
TANC2	Q9HCD6	p.His957Tyr	rs750182978	missense variant	-	NC_000017.11:g.63395782C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala959Thr	rs1195938676	missense variant	-	NC_000017.11:g.63395788G>A	TOPMed
TANC2	Q9HCD6	p.Leu960Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63395791C>G	NCI-TCGA
TANC2	Q9HCD6	p.Arg961Ter	rs1265295257	stop gained	-	NC_000017.11:g.63395794C>T	gnomAD
TANC2	Q9HCD6	p.Arg961Gln	rs374131489	missense variant	-	NC_000017.11:g.63395795G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly962Ser	rs1191615667	missense variant	-	NC_000017.11:g.63395797G>A	gnomAD
TANC2	Q9HCD6	p.His963Arg	rs1422928791	missense variant	-	NC_000017.11:g.63395801A>G	gnomAD
TANC2	Q9HCD6	p.Val966Ile	rs779813561	missense variant	-	NC_000017.11:g.63395809G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Val966Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63395809G>T	NCI-TCGA
TANC2	Q9HCD6	p.Val967Ile	rs751552018	missense variant	-	NC_000017.11:g.63395812G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Lys968Arg	rs754420162	missense variant	-	NC_000017.11:g.63395816A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln972Arg	COSM5155349	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63395828A>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Thr976Met	rs780807728	missense variant	-	NC_000017.11:g.63395840C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Met977Ile	rs1027886300	missense variant	-	NC_000017.11:g.63395844G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly979Ser	rs755699792	missense variant	-	NC_000017.11:g.63395848G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln980Arg	rs367676849	missense variant	-	NC_000017.11:g.63395852A>G	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Gln980Ter	rs113065000	stop gained	-	NC_000017.11:g.63395851C>T	1000Genomes
TANC2	Q9HCD6	p.Gly983Arg	COSM4068525	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63395860G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Val984Ile	rs749608007	missense variant	-	NC_000017.11:g.63395863G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val984Glu	rs771360193	missense variant	-	NC_000017.11:g.63395864T>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val984Leu	rs749608007	missense variant	-	NC_000017.11:g.63395863G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys986Arg	rs1217104853	missense variant	-	NC_000017.11:g.63395870A>G	gnomAD
TANC2	Q9HCD6	p.Ser988Gly	rs774691299	missense variant	-	NC_000017.11:g.63395875A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala990Thr	rs746436568	missense variant	-	NC_000017.11:g.63395881G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln993His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63395892G>T	NCI-TCGA
TANC2	Q9HCD6	p.Ala997Val	rs925525321	missense variant	-	NC_000017.11:g.63395903C>T	gnomAD
TANC2	Q9HCD6	p.Ala999Gly	rs1441132640	missense variant	-	NC_000017.11:g.63395909C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1004Ile	rs557700809	missense variant	-	NC_000017.11:g.63395924C>T	1000Genomes
TANC2	Q9HCD6	p.Ile1006Val	rs1208404617	missense variant	-	NC_000017.11:g.63398821A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1007Ile	rs1319792567	missense variant	-	NC_000017.11:g.63398824G>A	TOPMed
TANC2	Q9HCD6	p.Ser1008Cys	rs1160961847	missense variant	-	NC_000017.11:g.63398828C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1008Tyr	rs1160961847	missense variant	-	NC_000017.11:g.63398828C>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1012His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63398839G>C	NCI-TCGA
TANC2	Q9HCD6	p.Lys1016Glu	rs913769112	missense variant	-	NC_000017.11:g.63398851A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1017Asn	rs1333009579	missense variant	-	NC_000017.11:g.63398854G>A	gnomAD
TANC2	Q9HCD6	p.Glu1018Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63398857G>A	NCI-TCGA
TANC2	Q9HCD6	p.Glu1019Ala	rs1374165658	missense variant	-	NC_000017.11:g.63398861A>C	gnomAD
TANC2	Q9HCD6	p.Arg1023Ter	COSM4919588	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63398872C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser1028Cys	rs1423425524	missense variant	-	NC_000017.11:g.63398887A>T	TOPMed
TANC2	Q9HCD6	p.Ser1031Thr	rs776968832	missense variant	-	NC_000017.11:g.63398897G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1031Asn	rs776968832	missense variant	-	NC_000017.11:g.63398897G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1032Val	rs762149740	missense variant	-	NC_000017.11:g.63398899C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1032Phe	rs762149740	missense variant	-	NC_000017.11:g.63398899C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu1035Gln	COSM4825823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63398908G>C	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Thr1036Ile	rs1177008187	missense variant	-	NC_000017.11:g.63398912C>T	gnomAD
TANC2	Q9HCD6	p.Ala1042Val	rs374605275	missense variant	-	NC_000017.11:g.63405137C>T	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1043Arg	rs200323393	missense variant	-	NC_000017.11:g.63405139G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1043Ter	rs200323393	stop gained	-	NC_000017.11:g.63405139G>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1043Ala	rs190187657	missense variant	-	NC_000017.11:g.63405140G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys1046GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63405142_63405143insG	NCI-TCGA
TANC2	Q9HCD6	p.Cys1050Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63405161G>A	NCI-TCGA
TANC2	Q9HCD6	p.Arg1051Cys	rs1369067776	missense variant	-	NC_000017.11:g.63405163C>T	TOPMed
TANC2	Q9HCD6	p.Arg1051His	rs753330160	missense variant	-	NC_000017.11:g.63405164G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1058Val	rs761251537	missense variant	-	NC_000017.11:g.63405185C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1059Thr	rs1399021803	missense variant	-	NC_000017.11:g.63405187G>A	TOPMed
TANC2	Q9HCD6	p.Ala1061Thr	rs1446885616	missense variant	-	NC_000017.11:g.63405193G>A	gnomAD
TANC2	Q9HCD6	p.Pro1063Thr	rs1221689321	missense variant	-	NC_000017.11:g.63405199C>A	gnomAD
TANC2	Q9HCD6	p.Asn1064Asp	rs1025704226	missense variant	-	NC_000017.11:g.63405202A>G	TOPMed
TANC2	Q9HCD6	p.Arg1065Cys	rs545352608	missense variant	-	NC_000017.11:g.63405205C>T	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1065His	rs750081650	missense variant	-	NC_000017.11:g.63405206G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1066Leu	rs758810518	missense variant	-	NC_000017.11:g.63405209G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1066Gln	rs758810518	missense variant	-	NC_000017.11:g.63405209G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1066Ter	COSM1324918	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63405208C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Leu1071Val	rs1156572294	missense variant	-	NC_000017.11:g.63405223C>G	gnomAD
TANC2	Q9HCD6	p.Thr1074Ser	rs769797251	missense variant	-	NC_000017.11:g.63405232A>T	ExAC
TANC2	Q9HCD6	p.Arg1076Leu	rs771843402	missense variant	-	NC_000017.11:g.63405239G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1076His	rs771843402	missense variant	-	NC_000017.11:g.63405239G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1076Cys	rs368122235	missense variant	-	NC_000017.11:g.63405238C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1076Gly	rs368122235	missense variant	-	NC_000017.11:g.63405238C>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.His1079Tyr	rs1377882035	missense variant	-	NC_000017.11:g.63405247C>T	gnomAD
TANC2	Q9HCD6	p.Leu1085Val	rs756199846	missense variant	-	NC_000017.11:g.63406163C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1085Ile	COSM982548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63406163C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Leu1086TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63406164T>-	NCI-TCGA
TANC2	Q9HCD6	p.Thr1088Ile	rs1263632797	missense variant	-	NC_000017.11:g.63406173C>T	TOPMed
TANC2	Q9HCD6	p.His1089Arg	rs1232176889	missense variant	-	NC_000017.11:g.63406176A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1090Glu	rs1319565162	missense variant	-	NC_000017.11:g.63406179G>A	gnomAD
TANC2	Q9HCD6	p.Ala1091Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63406181G>C	NCI-TCGA
TANC2	Q9HCD6	p.Met1095Thr	rs1196447873	missense variant	-	NC_000017.11:g.63406194T>C	gnomAD
TANC2	Q9HCD6	p.Ala1096Gly	rs1271839894	missense variant	-	NC_000017.11:g.63406197C>G	gnomAD
TANC2	Q9HCD6	p.Ala1096Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63406196G>A	NCI-TCGA
TANC2	Q9HCD6	p.Asp1097Glu	rs1211931490	missense variant	-	NC_000017.11:g.63406201C>A	gnomAD
TANC2	Q9HCD6	p.Asp1097Gly	rs757405529	missense variant	-	NC_000017.11:g.63406200A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1099His	rs779128919	missense variant	-	NC_000017.11:g.63406207G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1101Cys	rs768478015	missense variant	-	NC_000017.11:g.63406211C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1102Ile	rs1187322521	missense variant	-	NC_000017.11:g.63406215C>T	gnomAD
TANC2	Q9HCD6	p.Pro1103Ala	rs1364742226	missense variant	-	NC_000017.11:g.63406217C>G	TOPMed
TANC2	Q9HCD6	p.Leu1104Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63406221T>G	NCI-TCGA
TANC2	Q9HCD6	p.Met1105Ile	rs1326784090	missense variant	-	NC_000017.11:g.63406225G>C	TOPMed
TANC2	Q9HCD6	p.Met1105Thr	rs776606839	missense variant	-	NC_000017.11:g.63406224T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu1110Lys	rs976637040	missense variant	-	NC_000017.11:g.63406238G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.His1112Gln	rs1396013752	missense variant	-	NC_000017.11:g.63406246T>A	gnomAD
TANC2	Q9HCD6	p.Leu1113Val	rs769339759	missense variant	-	NC_000017.11:g.63406247C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1114Arg	rs1356647932	missense variant	-	NC_000017.11:g.63406250G>A	gnomAD
TANC2	Q9HCD6	p.Val1116Leu	rs762562307	missense variant	-	NC_000017.11:g.63406256G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1116Met	rs762562307	missense variant	-	NC_000017.11:g.63406256G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1117Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63406260A>G	NCI-TCGA
TANC2	Q9HCD6	p.Leu1119Val	rs774182442	missense variant	-	NC_000017.11:g.63406265C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1120Phe	COSM1385124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63406268C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ala1121Val	rs1286771997	missense variant	-	NC_000017.11:g.63406272C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1124Ser	rs1316954824	missense variant	-	NC_000017.11:g.63411513G>T	gnomAD
TANC2	Q9HCD6	p.Ser1125Phe	rs769557502	missense variant	-	NC_000017.11:g.63411517C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1125Thr	rs1173226314	missense variant	-	NC_000017.11:g.63411516T>A	TOPMed
TANC2	Q9HCD6	p.Ile1126Met	rs773301798	missense variant	-	NC_000017.11:g.63411521T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Met1129Thr	rs201991449	missense variant	-	NC_000017.11:g.63411529T>C	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1136Pro	rs534793801	missense variant	-	NC_000017.11:g.63411549G>C	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1142Ser	rs1437686978	missense variant	-	NC_000017.11:g.63411568T>C	TOPMed
TANC2	Q9HCD6	p.His1145Arg	rs1203482098	missense variant	-	NC_000017.11:g.63411577A>G	gnomAD
TANC2	Q9HCD6	p.Ser1147Pro	rs77573295	missense variant	-	NC_000017.11:g.63411582T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1148Ile	rs1230917443	missense variant	-	NC_000017.11:g.63411585G>A	gnomAD
TANC2	Q9HCD6	p.Arg1150His	rs377115331	missense variant	-	NC_000017.11:g.63411592G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1150Cys	rs775650558	missense variant	-	NC_000017.11:g.63411591C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1154Tyr	rs764467626	missense variant	-	NC_000017.11:g.63411603G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1154Gly	rs531389009	missense variant	-	NC_000017.11:g.63411604A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn1155Ile	rs1159591545	missense variant	-	NC_000017.11:g.63411607A>T	gnomAD
TANC2	Q9HCD6	p.Asn1155Asp	rs1253920589	missense variant	-	NC_000017.11:g.63411606A>G	TOPMed
TANC2	Q9HCD6	p.Gly1156Val	RCV000678329	missense variant	-	NC_000017.11:g.63411610G>T	ClinVar
TANC2	Q9HCD6	p.Gly1156Arg	rs1354224699	missense variant	-	NC_000017.11:g.63411609G>A	TOPMed
TANC2	Q9HCD6	p.Ala1157Pro	rs761859549	missense variant	-	NC_000017.11:g.63411612G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1158Thr	rs750635698	missense variant	-	NC_000017.11:g.63411615G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1158Asp	rs758478943	missense variant	-	NC_000017.11:g.63411616C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1159Lys	rs1387995348	missense variant	-	NC_000017.11:g.63411619C>A	gnomAD
TANC2	Q9HCD6	p.Asp1160Glu	rs780335147	missense variant	-	NC_000017.11:g.63411623C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1160His	rs1323538032	missense variant	-	NC_000017.11:g.63411621G>C	gnomAD
TANC2	Q9HCD6	p.His1161Asp	rs895904203	missense variant	-	NC_000017.11:g.63411624C>G	TOPMed
TANC2	Q9HCD6	p.Arg1167Pro	rs777825224	missense variant	-	NC_000017.11:g.63411643G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1167Cys	rs755972267	missense variant	-	NC_000017.11:g.63411642C>T	ExAC,TOPMed
TANC2	Q9HCD6	p.Arg1167His	rs777825224	missense variant	-	NC_000017.11:g.63411643G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1169Ala	rs1400120288	missense variant	-	NC_000017.11:g.63411648C>G	TOPMed
TANC2	Q9HCD6	p.Ala1173Thr	rs1312558593	missense variant	-	NC_000017.11:g.63411660G>A	TOPMed
TANC2	Q9HCD6	p.Ala1174Ser	rs778633795	missense variant	-	NC_000017.11:g.63411663G>T	ExAC
TANC2	Q9HCD6	p.Ala1174Gly	rs745388587	missense variant	-	NC_000017.11:g.63411664C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr1176Cys	rs771568324	missense variant	-	NC_000017.11:g.63411670A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1177Ser	rs775232466	missense variant	-	NC_000017.11:g.63411672G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1178Asn	rs1179665050	missense variant	-	NC_000017.11:g.63411675G>A	gnomAD
TANC2	Q9HCD6	p.Asp1178Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63411675G>T	NCI-TCGA
TANC2	Q9HCD6	p.Asp1178Val	rs1046870172	missense variant	-	NC_000017.11:g.63411676A>T	TOPMed
TANC2	Q9HCD6	p.Glu1180Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63411683G>T	NCI-TCGA
TANC2	Q9HCD6	p.Glu1180Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63411681G>A	NCI-TCGA
TANC2	Q9HCD6	p.Val1181Leu	rs1005400347	missense variant	-	NC_000017.11:g.63411684G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1182Ile	COSM437099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63411998G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Val1186Ile	rs1270765216	missense variant	-	NC_000017.11:g.63412010G>A	gnomAD
TANC2	Q9HCD6	p.Val1186Ala	rs766532566	missense variant	-	NC_000017.11:g.63412011T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1187Gly	rs774426806	missense variant	-	NC_000017.11:g.63412014A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1190Val	rs759873225	missense variant	-	NC_000017.11:g.63412023C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Met1191Val	rs767857326	missense variant	-	NC_000017.11:g.63412025A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Met1191Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63412027G>A	NCI-TCGA
TANC2	Q9HCD6	p.Ile1192Met	rs201127113	missense variant	-	NC_000017.11:g.63412030C>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu1193Lys	rs1486855966	missense variant	-	NC_000017.11:g.63412031G>A	gnomAD
TANC2	Q9HCD6	p.His1194Leu	rs1204942102	missense variant	-	NC_000017.11:g.63412035A>T	gnomAD
TANC2	Q9HCD6	p.Val1195Ala	rs1449638267	missense variant	-	NC_000017.11:g.63412038T>C	TOPMed
TANC2	Q9HCD6	p.Val1195Ile	rs750422428	missense variant	-	NC_000017.11:g.63412037G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr1197Cys	rs756223486	missense variant	-	NC_000017.11:g.63412044A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1198Thr	rs1187720722	missense variant	-	NC_000017.11:g.63412047G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1198Arg	rs1416971626	missense variant	-	NC_000017.11:g.63412048T>G	gnomAD
TANC2	Q9HCD6	p.Gly1199Glu	COSM6147660	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63412050G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg1201Cys	rs901125104	missense variant	-	NC_000017.11:g.63412055C>T	-
TANC2	Q9HCD6	p.Arg1201His	rs201488189	missense variant	-	NC_000017.11:g.63412056G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1202Ser	COSM5073509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63412058C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Asp1204Glu	rs746505172	missense variant	-	NC_000017.11:g.63412066T>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1205Gly	rs1052193629	missense variant	-	NC_000017.11:g.63412067A>G	gnomAD
TANC2	Q9HCD6	p.Arg1210Gln	rs780840821	missense variant	-	NC_000017.11:g.63412083G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1210Trp	rs1172991031	missense variant	-	NC_000017.11:g.63412082C>T	gnomAD
TANC2	Q9HCD6	p.Thr1212Asn	rs770181673	missense variant	-	NC_000017.11:g.63412089C>A	ExAC
TANC2	Q9HCD6	p.Thr1212Ala	rs1290658354	missense variant	-	NC_000017.11:g.63412088A>G	gnomAD
TANC2	Q9HCD6	p.Ser1213Thr	rs1452415768	missense variant	-	NC_000017.11:g.63412091T>A	TOPMed
TANC2	Q9HCD6	p.Val1216Leu	rs749866687	missense variant	-	NC_000017.11:g.63412100G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr1217Ser	rs1010959592	missense variant	-	NC_000017.11:g.63412104C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1217Ile	rs1010959592	missense variant	-	NC_000017.11:g.63412104C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1218Phe	rs1350562153	missense variant	-	NC_000017.11:g.63412106C>T	gnomAD
TANC2	Q9HCD6	p.Leu1218Ile	rs1350562153	missense variant	-	NC_000017.11:g.63412106C>A	gnomAD
TANC2	Q9HCD6	p.Lys1220Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63412114G>C	NCI-TCGA
TANC2	Q9HCD6	p.Gly1222Glu	rs184619475	missense variant	-	NC_000017.11:g.63412119G>A	1000Genomes
TANC2	Q9HCD6	p.Lys1224Arg	rs770916010	missense variant	-	NC_000017.11:g.63412125A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1228Thr	rs1473050584	missense variant	-	NC_000017.11:g.63413548G>A	gnomAD
TANC2	Q9HCD6	p.Ala1231Thr	rs1474261850	missense variant	-	NC_000017.11:g.63413557G>A	gnomAD
TANC2	Q9HCD6	p.Thr1234Ile	rs1420460126	missense variant	-	NC_000017.11:g.63413567C>T	gnomAD
TANC2	Q9HCD6	p.Asp1238Asn	rs761043580	missense variant	-	NC_000017.11:g.63413578G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1239Thr	rs768763926	missense variant	-	NC_000017.11:g.63413582T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile1239Val	rs1354480250	missense variant	-	NC_000017.11:g.63413581A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Met1240Leu	rs1353072898	missense variant	-	NC_000017.11:g.63413584A>C	gnomAD
TANC2	Q9HCD6	p.Met1240Thr	rs1232115382	missense variant	-	NC_000017.11:g.63413585T>C	gnomAD
TANC2	Q9HCD6	p.Ile1241Val	rs773002015	missense variant	-	NC_000017.11:g.63413587A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile1241Thr	rs1340975941	missense variant	-	NC_000017.11:g.63413588T>C	gnomAD
TANC2	Q9HCD6	p.Ile1242Phe	rs1212598093	missense variant	-	NC_000017.11:g.63413590A>T	gnomAD
TANC2	Q9HCD6	p.Ser1245Asn	rs766295871	missense variant	-	NC_000017.11:g.63413600G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Lys1246Gln	rs751534960	missense variant	-	NC_000017.11:g.63413602A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Met1248Val	rs759022503	missense variant	-	NC_000017.11:g.63413608A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Met1248Ile	rs776021083	missense variant	-	NC_000017.11:g.63413610G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1252Asn	rs1242940560	missense variant	-	NC_000017.11:g.63413620G>A	gnomAD
TANC2	Q9HCD6	p.Asp1252Val	rs752345323	missense variant	-	NC_000017.11:g.63413621A>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1258Asp	rs939147095	missense variant	-	NC_000017.11:g.63415532G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1260Ile	rs752149176	missense variant	-	NC_000017.11:g.63415537G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Lys1261Arg	rs760125888	missense variant	-	NC_000017.11:g.63415541A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Lys1261Asn	rs1352984108	missense variant	-	NC_000017.11:g.63415542G>T	gnomAD
TANC2	Q9HCD6	p.Glu1262Lys	COSM6081827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63415543G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Gln1265Glu	rs753474791	missense variant	-	NC_000017.11:g.63415552C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1266Cys	rs757622270	missense variant	-	NC_000017.11:g.63415555C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1266His	rs897727078	missense variant	-	NC_000017.11:g.63415556G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr1267Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63415559A>G	NCI-TCGA
TANC2	Q9HCD6	p.Gln1268Arg	rs1251593257	missense variant	-	NC_000017.11:g.63415562A>G	gnomAD
TANC2	Q9HCD6	p.Tyr1269Cys	rs370300150	missense variant	-	NC_000017.11:g.63415565A>G	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr1269Ter	COSM706511	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63415566C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ala1270Thr	rs1366031139	missense variant	-	NC_000017.11:g.63415567G>A	gnomAD
TANC2	Q9HCD6	p.Phe1274Leu	rs780728787	missense variant	-	NC_000017.11:g.63415579T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1280Val	VAR_079853	Missense	-	-	UniProt
TANC2	Q9HCD6	p.Glu1281Asp	rs540743422	missense variant	-	NC_000017.11:g.63415602G>T	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1282Asn	rs768655244	missense variant	-	NC_000017.11:g.63415603G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr1285Ala	rs1393534829	missense variant	-	NC_000017.11:g.63415612A>G	gnomAD
TANC2	Q9HCD6	p.Phe1286Tyr	rs370892096	missense variant	-	NC_000017.11:g.63415616T>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Phe1286Ser	rs370892096	missense variant	-	NC_000017.11:g.63415616T>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1287Trp	rs372803024	missense variant	-	NC_000017.11:g.63415618C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1287Gln	rs748373533	missense variant	-	NC_000017.11:g.63415619G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys1290Asn	rs1287729135	missense variant	-	NC_000017.11:g.63415629G>T	gnomAD
TANC2	Q9HCD6	p.Val1291Met	rs981882459	missense variant	-	NC_000017.11:g.63415630G>A	TOPMed
TANC2	Q9HCD6	p.Ser1292Tyr	COSM263962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63415634C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Leu1295Phe	COSM3520606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63415642C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Asn1296Ser	rs376982885	missense variant	-	NC_000017.11:g.63415646A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn1296Asp	rs1392008390	missense variant	-	NC_000017.11:g.63415645A>G	TOPMed
TANC2	Q9HCD6	p.Ser1298Phe	rs745679564	missense variant	-	NC_000017.11:g.63415652C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1298Cys	rs745679564	missense variant	-	NC_000017.11:g.63415652C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1299Gln	rs771952102	missense variant	-	NC_000017.11:g.63415655G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1301Cys	rs1436521684	missense variant	-	NC_000017.11:g.63415660C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1301His	rs1180475181	missense variant	-	NC_000017.11:g.63415661G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1302Met	rs1202858275	missense variant	-	NC_000017.11:g.63415664G>T	gnomAD
TANC2	Q9HCD6	p.Arg1302Ser	rs1285698846	missense variant	-	NC_000017.11:g.63415665G>T	gnomAD
TANC2	Q9HCD6	p.Met1304Val	rs760202448	missense variant	-	NC_000017.11:g.63415669A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Asn1305Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63415674C>G	NCI-TCGA
TANC2	Q9HCD6	p.Gly1308Glu	rs1371182996	missense variant	-	NC_000017.11:g.63418314G>A	gnomAD
TANC2	Q9HCD6	p.Met1309Val	rs200373356	missense variant	-	NC_000017.11:g.63418316A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1310Val	rs1174223914	missense variant	-	NC_000017.11:g.63418320C>T	gnomAD
TANC2	Q9HCD6	p.Glu1311Lys	rs1416729665	missense variant	-	NC_000017.11:g.63418322G>A	gnomAD
TANC2	Q9HCD6	p.Phe1313Cys	rs746979235	missense variant	-	NC_000017.11:g.63418329T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1317Ser	rs1383056376	missense variant	-	NC_000017.11:g.63418340G>T	gnomAD
TANC2	Q9HCD6	p.Leu1320Pro	rs1297980683	missense variant	-	NC_000017.11:g.63418350T>C	gnomAD
TANC2	Q9HCD6	p.Lys1321Gln	rs768640765	missense variant	-	NC_000017.11:g.63418352A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1322Leu	rs1005228380	missense variant	-	NC_000017.11:g.63418356C>T	TOPMed
TANC2	Q9HCD6	p.Pro1322Ser	rs1228086655	missense variant	-	NC_000017.11:g.63418355C>T	gnomAD
TANC2	Q9HCD6	p.Tyr1325Cys	rs372098365	missense variant	-	NC_000017.11:g.63418365A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr1325His	rs534658690	missense variant	-	NC_000017.11:g.63418364T>C	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Glu1326Asp	rs763384774	missense variant	-	NC_000017.11:g.63418369A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr1329Cys	rs1187944657	missense variant	-	NC_000017.11:g.63418377A>G	gnomAD
TANC2	Q9HCD6	p.Ala1330Val	COSM982554	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63418380C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg1331Ser	rs1293608116	missense variant	-	NC_000017.11:g.63418384A>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1333Lys	rs1193978319	missense variant	-	NC_000017.11:g.63418389G>A	gnomAD
TANC2	Q9HCD6	p.Arg1336His	rs752099639	missense variant	-	NC_000017.11:g.63418398G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1336Cys	rs1396830120	missense variant	-	NC_000017.11:g.63418397C>T	gnomAD
TANC2	Q9HCD6	p.Ser1337Asn	rs1172936886	missense variant	-	NC_000017.11:g.63418401G>A	gnomAD
TANC2	Q9HCD6	p.Arg1339Lys	COSM86501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63418407G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Gln1340Ter	rs1293488634	stop gained	-	NC_000017.11:g.63420000C>T	gnomAD
TANC2	Q9HCD6	p.Ala1342Ser	rs141384353	missense variant	-	NC_000017.11:g.63420006G>T	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1342Thr	rs141384353	missense variant	-	NC_000017.11:g.63420006G>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1344Thr	rs542885777	missense variant	-	NC_000017.11:g.63420012G>A	1000Genomes,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1345Phe	rs932382460	missense variant	-	NC_000017.11:g.63420017A>C	gnomAD
TANC2	Q9HCD6	p.Glu1346Lys	rs375384579	missense variant	-	NC_000017.11:g.63420018G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1348Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420024C>A	NCI-TCGA
TANC2	Q9HCD6	p.Glu1350Lys	rs1467002389	missense variant	-	NC_000017.11:g.63420030G>A	gnomAD
TANC2	Q9HCD6	p.Ala1351Thr	rs559873644	missense variant	-	NC_000017.11:g.63420033G>A	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1359Cys	rs747580283	missense variant	-	NC_000017.11:g.63420057C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1365Val	rs369106640	missense variant	-	NC_000017.11:g.63420075C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1367Lys	rs1472290831	missense variant	-	NC_000017.11:g.63420082G>A	gnomAD
TANC2	Q9HCD6	p.Val1368Leu	rs1171779676	missense variant	-	NC_000017.11:g.63420084G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu1369Lys	rs372679973	missense variant	-	NC_000017.11:g.63420087G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu1370Lys	rs1420237316	missense variant	-	NC_000017.11:g.63420090G>A	gnomAD
TANC2	Q9HCD6	p.Glu1371Val	rs1403973386	missense variant	-	NC_000017.11:g.63420094A>T	gnomAD
TANC2	Q9HCD6	p.Arg1373Lys	rs770714662	missense variant	-	NC_000017.11:g.63420100G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Met1375Ile	rs1307280466	missense variant	-	NC_000017.11:g.63420107G>A	TOPMed
TANC2	Q9HCD6	p.Gln1376Glu	rs995565435	missense variant	-	NC_000017.11:g.63420108C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1378Arg	rs774523963	missense variant	-	NC_000017.11:g.63420115C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1378Leu	rs774523963	missense variant	-	NC_000017.11:g.63420115C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1379Pro	rs1028422577	missense variant	-	NC_000017.11:g.63420118A>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln1379Arg	rs1028422577	missense variant	-	NC_000017.11:g.63420118A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln1379His	rs1227535893	missense variant	-	NC_000017.11:g.63420119G>T	gnomAD
TANC2	Q9HCD6	p.Gln1380Ter	rs1273529569	stop gained	-	NC_000017.11:g.63420120C>T	gnomAD
TANC2	Q9HCD6	p.Pro1381Thr	rs1309026358	missense variant	-	NC_000017.11:g.63420123C>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1381Ala	rs1309026358	missense variant	-	NC_000017.11:g.63420123C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1382Leu	rs1202412676	missense variant	-	NC_000017.11:g.63420127C>T	gnomAD
TANC2	Q9HCD6	p.Pro1383Leu	rs564995228	missense variant	-	NC_000017.11:g.63420130C>T	1000Genomes,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1383Gln	rs564995228	missense variant	-	NC_000017.11:g.63420130C>A	1000Genomes,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1385Leu	rs1188684495	missense variant	-	NC_000017.11:g.63420136C>T	gnomAD
TANC2	Q9HCD6	p.Pro1387Ser	rs1471896917	missense variant	-	NC_000017.11:g.63420141C>T	gnomAD
TANC2	Q9HCD6	p.Gln1388Leu	rs753291375	missense variant	-	NC_000017.11:g.63420145A>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1388Arg	rs753291375	missense variant	-	NC_000017.11:g.63420145A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1389His	rs1420746049	missense variant	-	NC_000017.11:g.63420149G>T	gnomAD
TANC2	Q9HCD6	p.Gln1390Leu	rs1411982789	missense variant	-	NC_000017.11:g.63420151A>T	gnomAD
TANC2	Q9HCD6	p.Leu1391Phe	rs760725231	missense variant	-	NC_000017.11:g.63420155G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1392Arg	rs754057352	missense variant	-	NC_000017.11:g.63420157C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1392Ser	rs764219146	missense variant	-	NC_000017.11:g.63420156C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1392Thr	rs764219146	missense variant	-	NC_000017.11:g.63420156C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1392Leu	rs754057352	missense variant	-	NC_000017.11:g.63420157C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu1394Ala	rs1446908607	missense variant	-	NC_000017.11:g.63420163A>C	gnomAD
TANC2	Q9HCD6	p.Glu1394Lys	COSM3820175	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63420162G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Glu1396Gln	rs751268334	missense variant	-	NC_000017.11:g.63420168G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1397Leu	rs1212542665	missense variant	-	NC_000017.11:g.63420172C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln1400Lys	rs780968730	missense variant	-	NC_000017.11:g.63420180C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1403Val	rs1211695431	missense variant	-	NC_000017.11:g.63420190A>T	gnomAD
TANC2	Q9HCD6	p.Asp1403Asn	rs1283931778	missense variant	-	NC_000017.11:g.63420189G>A	TOPMed
TANC2	Q9HCD6	p.Ile1404Val	rs1282648406	missense variant	-	NC_000017.11:g.63420192A>G	gnomAD
TANC2	Q9HCD6	p.Ile1404Leu	rs1282648406	missense variant	-	NC_000017.11:g.63420192A>C	gnomAD
TANC2	Q9HCD6	p.Ile1404Met	rs1223480044	missense variant	-	NC_000017.11:g.63420194A>G	TOPMed
TANC2	Q9HCD6	p.Tyr1405His	rs748153191	missense variant	-	NC_000017.11:g.63420195T>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1406Tyr	rs769422542	missense variant	-	NC_000017.11:g.63420199C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1407Ile	rs550952516	missense variant	-	NC_000017.11:g.63420201G>A	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Val1407Leu	rs550952516	missense variant	-	NC_000017.11:g.63420201G>C	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1408Arg	rs748823330	missense variant	-	NC_000017.11:g.63420205A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1409Val	rs1031992264	missense variant	-	NC_000017.11:g.63420208A>T	TOPMed
TANC2	Q9HCD6	p.Asp1409Asn	rs563476758	missense variant	-	NC_000017.11:g.63420207G>A	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Ile1410Met	rs554718490	missense variant	-	NC_000017.11:g.63420212A>G	TOPMed
TANC2	Q9HCD6	p.Ile1410Val	rs774084886	missense variant	-	NC_000017.11:g.63420210A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu1412Lys	rs759788253	missense variant	-	NC_000017.11:g.63420216G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu1412Asp	rs1176061576	missense variant	-	NC_000017.11:g.63420218G>T	gnomAD
TANC2	Q9HCD6	p.Glu1413Gly	rs772540956	missense variant	-	NC_000017.11:g.63420220A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu1413Lys	rs1399495646	missense variant	-	NC_000017.11:g.63420219G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr1415His	rs1295790447	missense variant	-	NC_000017.11:g.63420225T>C	TOPMed
TANC2	Q9HCD6	p.Leu1416Gln	rs1318596647	missense variant	-	NC_000017.11:g.63420229T>A	gnomAD
TANC2	Q9HCD6	p.Asp1419Gly	rs369743122	missense variant	-	NC_000017.11:g.63420238A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1419Ala	rs369743122	missense variant	-	NC_000017.11:g.63420238A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1420Phe	rs761240342	missense variant	-	NC_000017.11:g.63420240G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1420Ile	rs761240342	missense variant	-	NC_000017.11:g.63420240G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu1421Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420243G>A	NCI-TCGA
TANC2	Q9HCD6	p.Ser1424Pro	rs761908937	missense variant	-	NC_000017.11:g.63420252T>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1425Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420255A>G	NCI-TCGA
TANC2	Q9HCD6	p.Ile1425Thr	rs750702865	missense variant	-	NC_000017.11:g.63420256T>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1426Ala	rs754716210	missense variant	-	NC_000017.11:g.63420259G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1428His	rs781107754	missense variant	-	NC_000017.11:g.63420266G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr1429Ile	rs190686099	missense variant	-	NC_000017.11:g.63420268C>T	1000Genomes,ExAC,TOPMed
TANC2	Q9HCD6	p.Thr1429Lys	rs190686099	missense variant	-	NC_000017.11:g.63420268C>A	1000Genomes,ExAC,TOPMed
TANC2	Q9HCD6	p.Ala1431Asp	rs1396912850	missense variant	-	NC_000017.11:g.63420274C>A	gnomAD
TANC2	Q9HCD6	p.Arg1432Gln	rs748768315	missense variant	-	NC_000017.11:g.63420277G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1432Trp	rs756059493	missense variant	-	NC_000017.11:g.63420276C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1432Gly	rs756059493	missense variant	-	NC_000017.11:g.63420276C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1434Asn	rs1196099411	missense variant	-	NC_000017.11:g.63420283G>A	gnomAD
TANC2	Q9HCD6	p.Gln1435Arg	rs1477419551	missense variant	-	NC_000017.11:g.63420286A>G	gnomAD
TANC2	Q9HCD6	p.Gln1435Glu	rs1376384903	missense variant	-	NC_000017.11:g.63420285C>G	gnomAD
TANC2	Q9HCD6	p.Gly1436Arg	rs756832425	missense variant	-	NC_000017.11:g.63420288G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1436Glu	rs778412023	missense variant	-	NC_000017.11:g.63420289G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1437Ile	rs745596388	missense variant	-	NC_000017.11:g.63420291C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1438Leu	rs534775694	missense variant	-	NC_000017.11:g.63420295C>T	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1438Ser	rs1319460082	missense variant	-	NC_000017.11:g.63420294C>T	gnomAD
TANC2	Q9HCD6	p.Pro1438Arg	rs534775694	missense variant	-	NC_000017.11:g.63420295C>G	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1439Gly	rs777159927	missense variant	-	NC_000017.11:g.63420298T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1439Leu	rs1016233271	missense variant	-	NC_000017.11:g.63420297G>C	TOPMed
TANC2	Q9HCD6	p.Gln1441Arg	rs1232644172	missense variant	-	NC_000017.11:g.63420304A>G	gnomAD
TANC2	Q9HCD6	p.Pro1444Arg	rs765416142	missense variant	-	NC_000017.11:g.63420313C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1445Phe	rs1299603665	missense variant	-	NC_000017.11:g.63420316C>T	gnomAD
TANC2	Q9HCD6	p.Pro1447Ser	rs1396809768	missense variant	-	NC_000017.11:g.63420321C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1447Leu	rs763167667	missense variant	-	NC_000017.11:g.63420322C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1448Gln	rs756006150	missense variant	-	NC_000017.11:g.63420325C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1448Leu	rs756006150	missense variant	-	NC_000017.11:g.63420325C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1448Arg	rs756006150	missense variant	-	NC_000017.11:g.63420325C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.His1449Arg	rs756712907	missense variant	-	NC_000017.11:g.63420328A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1450Trp	rs778555688	missense variant	-	NC_000017.11:g.63420330C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1450Gln	rs370919725	missense variant	-	NC_000017.11:g.63420331G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1451Asn	rs1183156540	missense variant	-	NC_000017.11:g.63420333G>A	gnomAD
TANC2	Q9HCD6	p.Ser1452Thr	rs898469016	missense variant	-	NC_000017.11:g.63420336T>A	TOPMed
TANC2	Q9HCD6	p.Ser1452Ter	rs931307124	stop gained	-	NC_000017.11:g.63420337C>G	TOPMed
TANC2	Q9HCD6	p.Ala1453Val	rs758013067	missense variant	-	NC_000017.11:g.63420340C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1453Thr	rs1365098541	missense variant	-	NC_000017.11:g.63420339G>A	gnomAD
TANC2	Q9HCD6	p.Tyr1454Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420342T>G	NCI-TCGA
TANC2	Q9HCD6	p.Tyr1454Phe	rs1158019912	missense variant	-	NC_000017.11:g.63420343A>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1455Thr	rs747340136	missense variant	-	NC_000017.11:g.63420346T>C	ExAC
TANC2	Q9HCD6	p.Ile1455Val	rs779709993	missense variant	-	NC_000017.11:g.63420345A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1457Gly	rs370812156	missense variant	-	NC_000017.11:g.63420351A>G	ESP,TOPMed
TANC2	Q9HCD6	p.Ser1458Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420354T>A	NCI-TCGA
TANC2	Q9HCD6	p.Leu1460Val	rs201876209	missense variant	-	NC_000017.11:g.63420360C>G	TOPMed
TANC2	Q9HCD6	p.Gln1464Lys	rs777104988	missense variant	-	NC_000017.11:g.63420372C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Phe1466Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420379T>G	NCI-TCGA
TANC2	Q9HCD6	p.Asp1467Tyr	rs748756535	missense variant	-	NC_000017.11:g.63420381G>T	ExAC
TANC2	Q9HCD6	p.Phe1468Leu	rs1219693183	missense variant	-	NC_000017.11:g.63420386C>A	TOPMed
TANC2	Q9HCD6	p.Arg1469Leu	rs374716902	missense variant	-	NC_000017.11:g.63420388G>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1469Trp	rs1287988148	missense variant	-	NC_000017.11:g.63420387C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1469Gln	rs374716902	missense variant	-	NC_000017.11:g.63420388G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1473Phe	rs1247445635	missense variant	-	NC_000017.11:g.63420400C>T	gnomAD
TANC2	Q9HCD6	p.Ser1473Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420400C>A	NCI-TCGA
TANC2	Q9HCD6	p.Gly1475Ala	rs1295564361	missense variant	-	NC_000017.11:g.63420406G>C	gnomAD
TANC2	Q9HCD6	p.Pro1477Ser	rs1200913336	missense variant	-	NC_000017.11:g.63420411C>T	TOPMed
TANC2	Q9HCD6	p.Pro1477Leu	rs762966526	missense variant	-	NC_000017.11:g.63420412C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1479Thr	rs1254559421	missense variant	-	NC_000017.11:g.63420418G>C	gnomAD
TANC2	Q9HCD6	p.Gln1483Glu	rs764041869	missense variant	-	NC_000017.11:g.63420429C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1484Cys	rs1257800660	missense variant	-	NC_000017.11:g.63420433C>G	gnomAD
TANC2	Q9HCD6	p.Thr1485Pro	rs753826605	missense variant	-	NC_000017.11:g.63420435A>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1485Ile	rs1438330151	missense variant	-	NC_000017.11:g.63420436C>T	TOPMed
TANC2	Q9HCD6	p.Pro1487Leu	rs376340189	missense variant	-	NC_000017.11:g.63420442C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1487Ser	rs1184957074	missense variant	-	NC_000017.11:g.63420441C>T	gnomAD
TANC2	Q9HCD6	p.Ala1488Val	rs1462275959	missense variant	-	NC_000017.11:g.63420445C>T	gnomAD
TANC2	Q9HCD6	p.Ser1496Leu	rs749905545	missense variant	-	NC_000017.11:g.63420469C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.His1497Tyr	rs779654816	missense variant	-	NC_000017.11:g.63420471C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.His1497Asn	rs779654816	missense variant	-	NC_000017.11:g.63420471C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr1498His	rs1356168073	missense variant	-	NC_000017.11:g.63420474T>C	gnomAD
TANC2	Q9HCD6	p.Arg1499Lys	rs1310824455	missense variant	-	NC_000017.11:g.63420478G>A	gnomAD
TANC2	Q9HCD6	p.Pro1500Arg	rs1352706759	missense variant	-	NC_000017.11:g.63420481C>G	TOPMed
TANC2	Q9HCD6	p.Pro1500Leu	rs1352706759	missense variant	-	NC_000017.11:g.63420481C>T	TOPMed
TANC2	Q9HCD6	p.Pro1503Leu	rs1414936781	missense variant	-	NC_000017.11:g.63420490C>T	TOPMed
TANC2	Q9HCD6	p.Thr1505Ile	rs571360967	missense variant	-	NC_000017.11:g.63420496C>T	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1506Phe	rs748473534	missense variant	-	NC_000017.11:g.63420499C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1506Cys	rs748473534	missense variant	-	NC_000017.11:g.63420499C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1507Ser	rs1277428042	missense variant	-	NC_000017.11:g.63420501C>T	gnomAD
TANC2	Q9HCD6	p.Pro1507Leu	rs902412126	missense variant	-	NC_000017.11:g.63420502C>T	TOPMed
TANC2	Q9HCD6	p.His1509Tyr	rs747152020	missense variant	-	NC_000017.11:g.63420507C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1510Leu	NCI-TCGA novel	inframe deletion	-	NC_000017.11:g.63420511_63420528AGGGAGGATCTTACCGTT>-	NCI-TCGA
TANC2	Q9HCD6	p.Gly1512Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420516G>A	NCI-TCGA
TANC2	Q9HCD6	p.Ser1513Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420520C>T	NCI-TCGA
TANC2	Q9HCD6	p.Arg1515His	rs368429977	missense variant	-	NC_000017.11:g.63420526G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1515Gly	rs771184998	missense variant	-	NC_000017.11:g.63420525C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1515Cys	rs771184998	missense variant	-	NC_000017.11:g.63420525C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1519Leu	rs765187847	missense variant	-	NC_000017.11:g.63420538C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1519His	rs765187847	missense variant	-	NC_000017.11:g.63420538C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1519Arg	rs765187847	missense variant	-	NC_000017.11:g.63420538C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1519LeuPheSerTerUnkUnk	COSM1385128	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63420533C>-	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Pro1519Ala	rs776432017	missense variant	-	NC_000017.11:g.63420537C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1519Ser	rs776432017	missense variant	-	NC_000017.11:g.63420537C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1519Thr	rs776432017	missense variant	-	NC_000017.11:g.63420537C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1521Ala	rs750373872	missense variant	-	NC_000017.11:g.63420544T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1521Met	rs1388250674	missense variant	-	NC_000017.11:g.63420543G>A	gnomAD
TANC2	Q9HCD6	p.Gly1525Ser	rs1301352485	missense variant	-	NC_000017.11:g.63420555G>A	gnomAD
TANC2	Q9HCD6	p.Lys1526Arg	rs372102144	missense variant	-	NC_000017.11:g.63420559A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1530Asn	rs780844680	missense variant	-	NC_000017.11:g.63420571G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1530Ile	rs780844680	missense variant	-	NC_000017.11:g.63420571G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1531Ser	rs753068166	missense variant	-	NC_000017.11:g.63420573C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1533Leu	rs749820274	missense variant	-	NC_000017.11:g.63420580C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1533His	rs749820274	missense variant	-	NC_000017.11:g.63420580C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1533Ala	rs756478162	missense variant	-	NC_000017.11:g.63420579C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1533Thr	rs756478162	missense variant	-	NC_000017.11:g.63420579C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1535Ser	rs866965328	missense variant	-	NC_000017.11:g.63420585C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1536Val	rs200623978	missense variant	-	NC_000017.11:g.63420588C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1537Gln	rs545572702	missense variant	-	NC_000017.11:g.63420592G>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1537Trp	rs367973706	missense variant	-	NC_000017.11:g.63420591C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1537Gly	rs367973706	missense variant	-	NC_000017.11:g.63420591C>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1540Arg	rs1194230794	missense variant	-	NC_000017.11:g.63420601C>G	gnomAD
TANC2	Q9HCD6	p.Arg1543Gly	rs769530509	missense variant	-	NC_000017.11:g.63420609C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1543Trp	rs769530509	missense variant	-	NC_000017.11:g.63420609C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1543Gln	rs773193935	missense variant	-	NC_000017.11:g.63420610G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1544Thr	rs1377293496	missense variant	-	NC_000017.11:g.63420612G>A	gnomAD
TANC2	Q9HCD6	p.Ala1544Val	rs1049785318	missense variant	-	NC_000017.11:g.63420613C>T	TOPMed
TANC2	Q9HCD6	p.Pro1546Ser	rs1460703029	missense variant	-	NC_000017.11:g.63420618C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1547Ser	rs553213380	missense variant	-	NC_000017.11:g.63420621C>T	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1547Ala	rs553213380	missense variant	-	NC_000017.11:g.63420621C>G	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1548Thr	rs944158607	missense variant	-	NC_000017.11:g.63420624G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1550Asn	rs1041544504	missense variant	-	NC_000017.11:g.63420631G>A	TOPMed
TANC2	Q9HCD6	p.Ser1550Gly	rs767168489	missense variant	-	NC_000017.11:g.63420630A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Met1551Leu	rs374665587	missense variant	-	NC_000017.11:g.63420633A>C	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Met1551Ile	rs1216969359	missense variant	-	NC_000017.11:g.63420635G>C	gnomAD
TANC2	Q9HCD6	p.Val1553Ile	rs1286069399	missense variant	-	NC_000017.11:g.63420639G>A	TOPMed
TANC2	Q9HCD6	p.Tyr1554Phe	rs756488036	missense variant	-	NC_000017.11:g.63420643A>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr1554Cys	rs756488036	missense variant	-	NC_000017.11:g.63420643A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1555Gly	rs1316972455	missense variant	-	NC_000017.11:g.63420645A>G	gnomAD
TANC2	Q9HCD6	p.Ser1556Ala	rs764433252	missense variant	-	NC_000017.11:g.63420648T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1557Arg	rs1328260134	missense variant	-	NC_000017.11:g.63420652A>G	gnomAD
TANC2	Q9HCD6	p.Gln1557Lys	rs754237687	missense variant	-	NC_000017.11:g.63420651C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1559Cys	rs1314749864	missense variant	-	NC_000017.11:g.63420657G>T	TOPMed
TANC2	Q9HCD6	p.Gly1559ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63420658_63420659GT>-	NCI-TCGA
TANC2	Q9HCD6	p.Pro1561Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420664C>T	NCI-TCGA
TANC2	Q9HCD6	p.Val1562Met	rs368956259	missense variant	-	NC_000017.11:g.63420666G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1563Cys	rs373436341	missense variant	-	NC_000017.11:g.63420669C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1563Leu	rs758597698	missense variant	-	NC_000017.11:g.63420670G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1563His	rs758597698	missense variant	-	NC_000017.11:g.63420670G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr1564Asp	rs1441015451	missense variant	-	NC_000017.11:g.63420672T>G	gnomAD
TANC2	Q9HCD6	p.Gln1565Arg	rs780306862	missense variant	-	NC_000017.11:g.63420676A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1565His	rs747257403	missense variant	-	NC_000017.11:g.63420677G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr1568Ala	rs1457054156	missense variant	-	NC_000017.11:g.63420684A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1568Ile	rs768924519	missense variant	-	NC_000017.11:g.63420685C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1569Ile	rs954884795	missense variant	-	NC_000017.11:g.63420688G>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1570Ile	rs199869842	missense variant	-	NC_000017.11:g.63420690G>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1575Val	rs774310780	missense variant	-	NC_000017.11:g.63420706G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1575Ser	rs545154452	missense variant	-	NC_000017.11:g.63420705G>A	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1579Pro	rs1165942036	missense variant	-	NC_000017.11:g.63420717T>C	TOPMed
TANC2	Q9HCD6	p.Pro1580Ser	rs1011861731	missense variant	-	NC_000017.11:g.63420720C>T	TOPMed
TANC2	Q9HCD6	p.Leu1581Ser	rs766994994	missense variant	-	NC_000017.11:g.63420724T>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Met1584Thr	rs1263344336	missense variant	-	NC_000017.11:g.63420733T>C	TOPMed
TANC2	Q9HCD6	p.Met1584Val	rs1478421654	missense variant	-	NC_000017.11:g.63420732A>G	TOPMed
TANC2	Q9HCD6	p.Arg1587Gln	rs775205713	missense variant	-	NC_000017.11:g.63420742G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1587Trp	rs1233680392	missense variant	-	NC_000017.11:g.63420741C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1588Ser	rs1259723239	missense variant	-	NC_000017.11:g.63420744C>T	TOPMed
TANC2	Q9HCD6	p.Pro1588Leu	rs1003264700	missense variant	-	NC_000017.11:g.63420745C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr1589His	rs180736177	missense variant	-	NC_000017.11:g.63420747T>C	1000Genomes,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1596Glu	rs199734433	missense variant	-	NC_000017.11:g.63420769T>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1596Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420769T>C	NCI-TCGA
TANC2	Q9HCD6	p.Val1596Gly	rs199734433	missense variant	-	NC_000017.11:g.63420769T>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln1600Arg	COSM982560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63420781A>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Gln1601Lys	rs1472423207	missense variant	-	NC_000017.11:g.63420783C>A	gnomAD
TANC2	Q9HCD6	p.Gln1601Arg	COSM982562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63420784A>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Gly1602Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420786G>A	NCI-TCGA
TANC2	Q9HCD6	p.Arg1604Gly	rs751023721	missense variant	-	NC_000017.11:g.63420792A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1606Ter	rs758495961	stop gained	-	NC_000017.11:g.63420798C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1608Ser	rs972936059	missense variant	-	NC_000017.11:g.63420804G>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1608Val	rs1164732977	missense variant	-	NC_000017.11:g.63420805C>T	gnomAD
TANC2	Q9HCD6	p.Ala1610Gly	rs1305570834	missense variant	-	NC_000017.11:g.63420811C>G	gnomAD
TANC2	Q9HCD6	p.Gln1611His	rs1349336732	missense variant	-	NC_000017.11:g.63420815G>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1612Thr	COSM3820179	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63420817T>C	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ile1612Ser	rs369696442	missense variant	-	NC_000017.11:g.63420817T>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1612Asn	rs369696442	missense variant	-	NC_000017.11:g.63420817T>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn1616Thr	rs781506204	missense variant	-	NC_000017.11:g.63420829A>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln1617Pro	rs770762544	missense variant	-	NC_000017.11:g.63420832A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1617His	rs920166361	missense variant	-	NC_000017.11:g.63420833G>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1618Ala	rs1344139791	missense variant	-	NC_000017.11:g.63420834C>G	gnomAD
TANC2	Q9HCD6	p.Ser1619Asn	rs952968706	missense variant	-	NC_000017.11:g.63420838G>A	TOPMed
TANC2	Q9HCD6	p.Pro1620Ser	COSM4420555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63420840C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Val1622Phe	rs745873428	missense variant	-	NC_000017.11:g.63420846G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1622Ile	rs745873428	missense variant	-	NC_000017.11:g.63420846G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1625Asn	COSM982564	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63420856G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Thr1626Ile	rs774809700	missense variant	-	NC_000017.11:g.63420859C>T	ExAC
TANC2	Q9HCD6	p.Val1627Phe	rs199702353	missense variant	-	NC_000017.11:g.63420861G>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1627Ile	rs199702353	missense variant	-	NC_000017.11:g.63420861G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1628Thr	COSM982566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63420865T>C	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ile1628Val	rs1472028693	missense variant	-	NC_000017.11:g.63420864A>G	gnomAD
TANC2	Q9HCD6	p.Gly1631Arg	rs1260649655	missense variant	-	NC_000017.11:g.63420873G>A	TOPMed
TANC2	Q9HCD6	p.Ala1632Val	rs200863591	missense variant	-	NC_000017.11:g.63420877C>T	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr1633Cys	rs765761955	missense variant	-	NC_000017.11:g.63420880A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1636Ile	rs750818315	missense variant	-	NC_000017.11:g.63420888G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.His1638Tyr	rs1191455772	missense variant	-	NC_000017.11:g.63420894C>T	TOPMed
TANC2	Q9HCD6	p.His1638Arg	rs377361135	missense variant	-	NC_000017.11:g.63420895A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1639Ter	rs76448506	stop gained	-	NC_000017.11:g.63420898C>A	-
TANC2	Q9HCD6	p.Met1640Arg	rs766931239	missense variant	-	NC_000017.11:g.63420901T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1641Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63420903G>T	NCI-TCGA
TANC2	Q9HCD6	p.Ser1642Asn	rs369166403	missense variant	-	NC_000017.11:g.63420907G>A	ESP,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1642Ile	rs369166403	missense variant	-	NC_000017.11:g.63420907G>T	ESP,TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys1643Gln	rs916458760	missense variant	-	NC_000017.11:g.63420909A>C	gnomAD
TANC2	Q9HCD6	p.Tyr1644Ser	rs949345388	missense variant	-	NC_000017.11:g.63420913A>C	TOPMed
TANC2	Q9HCD6	p.Gln1645Arg	rs751552501	missense variant	-	NC_000017.11:g.63420916A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln1645His	rs200437129	missense variant	-	NC_000017.11:g.63420917G>C	1000Genomes
TANC2	Q9HCD6	p.Ser1646Thr	rs1259852581	missense variant	-	NC_000017.11:g.63420918T>A	TOPMed
TANC2	Q9HCD6	p.Gly1649Arg	rs752976774	missense variant	-	NC_000017.11:g.63420927G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1649Arg	rs752976774	missense variant	-	NC_000017.11:g.63420927G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1650Asn	rs757042329	missense variant	-	NC_000017.11:g.63420930G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1651Thr	rs200847109	missense variant	-	NC_000017.11:g.63420934T>C	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1657Trp	rs745692639	missense variant	-	NC_000017.11:g.63420951C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1657Gln	rs771860241	missense variant	-	NC_000017.11:g.63420952G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1657Pro	rs771860241	missense variant	-	NC_000017.11:g.63420952G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1658Val	rs377391067	missense variant	-	NC_000017.11:g.63420954T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1659Asp	rs746472611	missense variant	-	NC_000017.11:g.63420958T>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1663Thr	rs761462464	missense variant	-	NC_000017.11:g.63420969T>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile1664Phe	rs370440994	missense variant	-	NC_000017.11:g.63420972A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1664Thr	rs377743142	missense variant	-	NC_000017.11:g.63420973T>C	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1664Val	rs370440994	missense variant	-	NC_000017.11:g.63420972A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1665Arg	rs376064282	missense variant	-	NC_000017.11:g.63420975G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1666Glu	rs773661768	missense variant	-	NC_000017.11:g.63420979G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1668Leu	rs201027730	missense variant	-	NC_000017.11:g.63420984G>C	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1668Ile	rs201027730	missense variant	-	NC_000017.11:g.63420984G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1668Ala	rs759160811	missense variant	-	NC_000017.11:g.63420985T>C	gnomAD
TANC2	Q9HCD6	p.Val1668Leu	rs201027730	missense variant	-	NC_000017.11:g.63420984G>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1669Arg	rs1276755136	missense variant	-	NC_000017.11:g.63420987G>A	gnomAD
TANC2	Q9HCD6	p.Asp1670Asn	COSM473172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63420990G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg1672Lys	rs767652053	missense variant	-	NC_000017.11:g.63420997G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1673Leu	rs752778741	missense variant	-	NC_000017.11:g.63421000C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln1678Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421014C>A	NCI-TCGA
TANC2	Q9HCD6	p.Ala1679Gly	rs750149145	missense variant	-	NC_000017.11:g.63421018C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1679Val	rs750149145	missense variant	-	NC_000017.11:g.63421018C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1679Pro	rs1207165448	missense variant	-	NC_000017.11:g.63421017G>C	gnomAD
TANC2	Q9HCD6	p.Leu1681Val	rs1452758263	missense variant	-	NC_000017.11:g.63421023C>G	gnomAD
TANC2	Q9HCD6	p.Ser1682Arg	rs1256732461	missense variant	-	NC_000017.11:g.63421026A>C	TOPMed
TANC2	Q9HCD6	p.Ser1682Thr	rs758256144	missense variant	-	NC_000017.11:g.63421027G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1683Val	rs1244521868	missense variant	-	NC_000017.11:g.63421030C>T	gnomAD
TANC2	Q9HCD6	p.Ala1685Thr	rs567268087	missense variant	-	NC_000017.11:g.63421035G>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Cys1687Phe	rs1302894077	missense variant	-	NC_000017.11:g.63421042G>T	TOPMed
TANC2	Q9HCD6	p.His1689Gln	rs368631067	missense variant	-	NC_000017.11:g.63421049T>A	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Lys1694Ile	COSM3520620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421063A>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Asp1696Val	rs1455455651	missense variant	-	NC_000017.11:g.63421069A>T	gnomAD
TANC2	Q9HCD6	p.Leu1697Pro	rs780787900	missense variant	-	NC_000017.11:g.63421072T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1698Ala	rs769530798	missense variant	-	NC_000017.11:g.63421074C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1698Thr	rs769530798	missense variant	-	NC_000017.11:g.63421074C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1698Arg	rs773039687	missense variant	-	NC_000017.11:g.63421075C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1700Gln	rs749592806	missense variant	-	NC_000017.11:g.63421081G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1703Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421090C>T	NCI-TCGA
TANC2	Q9HCD6	p.Ala1704Val	rs774717697	missense variant	-	NC_000017.11:g.63421093C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1704Ser	rs771384486	missense variant	-	NC_000017.11:g.63421092G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr1705His	rs1226789491	missense variant	-	NC_000017.11:g.63421095T>C	gnomAD
TANC2	Q9HCD6	p.Arg1706Ter	COSM562009	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63421098C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg1706Gln	rs760022382	missense variant	-	NC_000017.11:g.63421099G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1707Cys	rs775502405	missense variant	-	NC_000017.11:g.63421101G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1707Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421101G>A	NCI-TCGA
TANC2	Q9HCD6	p.Gly1707Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421102G>A	NCI-TCGA
TANC2	Q9HCD6	p.Gly1708Asp	rs760778311	missense variant	-	NC_000017.11:g.63421105G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1709Met	rs527348146	missense variant	-	NC_000017.11:g.63421107G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Tyr1711Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421114A>G	NCI-TCGA
TANC2	Q9HCD6	p.Tyr1711His	rs1182194839	missense variant	-	NC_000017.11:g.63421113T>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1712Gly	rs758120629	missense variant	-	NC_000017.11:g.63421116A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1715Ser	rs1180989630	missense variant	-	NC_000017.11:g.63421125C>T	gnomAD
TANC2	Q9HCD6	p.Gln1716Arg	rs1368886723	missense variant	-	NC_000017.11:g.63421129A>G	gnomAD
TANC2	Q9HCD6	p.Ile1717Met	rs766127499	missense variant	-	NC_000017.11:g.63421133C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1718Arg	COSM1228470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421134G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Arg1719His	rs961824372	missense variant	-	NC_000017.11:g.63421138G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1719Cys	rs535828619	missense variant	-	NC_000017.11:g.63421137C>T	1000Genomes,ExAC
TANC2	Q9HCD6	p.Gln1721Ter	COSM3520622	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63421143C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Tyr1725Cys	rs752209041	missense variant	-	NC_000017.11:g.63421156A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.His1730Pro	rs777277066	missense variant	-	NC_000017.11:g.63421171A>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.His1730Leu	rs777277066	missense variant	-	NC_000017.11:g.63421171A>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys1732Glu	rs755826725	missense variant	-	NC_000017.11:g.63421176A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Asp1734His	rs1279663690	missense variant	-	NC_000017.11:g.63421182G>C	TOPMed
TANC2	Q9HCD6	p.Arg1737His	rs145164118	missense variant	-	NC_000017.11:g.63421192G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1737Cys	rs911472721	missense variant	-	NC_000017.11:g.63421191C>T	TOPMed
TANC2	Q9HCD6	p.Arg1737Pro	rs145164118	missense variant	-	NC_000017.11:g.63421192G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1738Pro	rs949289102	missense variant	-	NC_000017.11:g.63421194T>C	TOPMed
TANC2	Q9HCD6	p.Ser1739Ala	rs760725301	missense variant	-	NC_000017.11:g.63421197T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1740Gly	rs776573587	missense variant	-	NC_000017.11:g.63421200A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1740Thr	rs762033674	missense variant	-	NC_000017.11:g.63421201G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1743Val	rs754859782	missense variant	-	NC_000017.11:g.63421210G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1743Ala	rs754859782	missense variant	-	NC_000017.11:g.63421210G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Gly1743Asp	rs754859782	missense variant	-	NC_000017.11:g.63421210G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1744Phe	rs767537932	missense variant	-	NC_000017.11:g.63421213C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1745Ser	rs1311730519	missense variant	-	NC_000017.11:g.63421215C>T	TOPMed
TANC2	Q9HCD6	p.Ser1748Ala	rs752740180	missense variant	-	NC_000017.11:g.63421224T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1748Ter	rs756992729	stop gained	-	NC_000017.11:g.63421225C>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1748Leu	rs756992729	missense variant	-	NC_000017.11:g.63421225C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.His1749Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421228A>G	NCI-TCGA
TANC2	Q9HCD6	p.Arg1752Gly	rs777271783	missense variant	-	NC_000017.11:g.63421236A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1753Thr	rs1297843133	missense variant	-	NC_000017.11:g.63421240G>C	gnomAD
TANC2	Q9HCD6	p.Ile1755Val	rs748761784	missense variant	-	NC_000017.11:g.63421245A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1756Gly	rs756887497	missense variant	-	NC_000017.11:g.63421248A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1757Asp	rs1469394377	missense variant	-	NC_000017.11:g.63421252T>A	TOPMed
TANC2	Q9HCD6	p.Asn1758Ile	rs1369020821	missense variant	-	NC_000017.11:g.63421255A>T	TOPMed
TANC2	Q9HCD6	p.Pro1759Arg	rs746202328	missense variant	-	NC_000017.11:g.63421258C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1759His	rs746202328	missense variant	-	NC_000017.11:g.63421258C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn1760Lys	rs780529896	missense variant	-	NC_000017.11:g.63421262C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Glu1761Ter	COSM3520624	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.63421263G>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Glu1761Lys	rs1256980242	missense variant	-	NC_000017.11:g.63421263G>A	TOPMed
TANC2	Q9HCD6	p.Ile1762Met	rs1286665712	missense variant	-	NC_000017.11:g.63421268C>G	gnomAD
TANC2	Q9HCD6	p.Ile1762Thr	rs1300406778	missense variant	-	NC_000017.11:g.63421267T>C	gnomAD
TANC2	Q9HCD6	p.Pro1764Leu	rs778978586	missense variant	-	NC_000017.11:g.63421273C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.His1765Pro	rs1483992808	missense variant	-	NC_000017.11:g.63421276A>C	gnomAD
TANC2	Q9HCD6	p.His1765Tyr	rs575680050	missense variant	-	NC_000017.11:g.63421275C>T	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1766Leu	rs200671950	missense variant	-	NC_000017.11:g.63421279C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1771Leu	rs767486546	missense variant	-	NC_000017.11:g.63421294C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1772Phe	rs1426828513	missense variant	-	NC_000017.11:g.63421298G>T	gnomAD
TANC2	Q9HCD6	p.Ser1775Phe	rs745771366	missense variant	-	NC_000017.11:g.63421306C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1775Cys	rs745771366	missense variant	-	NC_000017.11:g.63421306C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln1776His	rs1467826852	missense variant	-	NC_000017.11:g.63421310A>C	gnomAD
TANC2	Q9HCD6	p.Ser1777Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421313T>G	NCI-TCGA
TANC2	Q9HCD6	p.Val1778Glu	rs755096851	missense variant	-	NC_000017.11:g.63421315T>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1780Phe	rs369786230	missense variant	-	NC_000017.11:g.63421320C>T	ESP,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1781His	rs372821172	missense variant	-	NC_000017.11:g.63421324G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1781Cys	rs1405337100	missense variant	-	NC_000017.11:g.63421323C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Phe1782Cys	RCV000678330	missense variant	-	NC_000017.11:g.63421327T>G	ClinVar
TANC2	Q9HCD6	p.Phe1782Leu	COSM982572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421328C>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Pro1784Leu	rs1166814116	missense variant	-	NC_000017.11:g.63421333C>T	TOPMed
TANC2	Q9HCD6	p.Pro1784Ser	COSM437103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421332C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser1786Arg	COSM4068539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421340C>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser1786Asn	rs1459875529	missense variant	-	NC_000017.11:g.63421339G>A	TOPMed
TANC2	Q9HCD6	p.Ser1788Arg	rs1420367914	missense variant	-	NC_000017.11:g.63421346T>A	gnomAD
TANC2	Q9HCD6	p.Ser1788Gly	rs778608692	missense variant	-	NC_000017.11:g.63421344A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1789Asn	rs939023019	missense variant	-	NC_000017.11:g.63421348T>A	TOPMed
TANC2	Q9HCD6	p.Ser1790Phe	rs1240396587	missense variant	-	NC_000017.11:g.63421351C>T	TOPMed
TANC2	Q9HCD6	p.Thr1792Pro	rs758761101	missense variant	-	NC_000017.11:g.63421356A>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1792Asn	rs1262075337	missense variant	-	NC_000017.11:g.63421357C>A	gnomAD
TANC2	Q9HCD6	p.Ser1793Pro	rs1452388871	missense variant	-	NC_000017.11:g.63421359T>C	TOPMed
TANC2	Q9HCD6	p.Asn1794Lys	rs780335763	missense variant	-	NC_000017.11:g.63421364C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1797Arg	rs747393102	missense variant	-	NC_000017.11:g.63421372C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1797Gln	rs747393102	missense variant	-	NC_000017.11:g.63421372C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1797Leu	rs747393102	missense variant	-	NC_000017.11:g.63421372C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1797Ser	rs1246120117	missense variant	-	NC_000017.11:g.63421371C>T	gnomAD
TANC2	Q9HCD6	p.Thr1798Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421374A>G	NCI-TCGA
TANC2	Q9HCD6	p.Phe1799Leu	rs1315330686	missense variant	-	NC_000017.11:g.63421379C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1800Gln	rs554732900	missense variant	-	NC_000017.11:g.63421381G>A	1000Genomes,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1801Ser	rs369925559	missense variant	-	NC_000017.11:g.63421383C>T	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1805Met	rs1458109367	missense variant	-	NC_000017.11:g.63421397C>G	gnomAD
TANC2	Q9HCD6	p.Ile1805SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63421395A>-	NCI-TCGA
TANC2	Q9HCD6	p.Gln1806His	rs1161749012	missense variant	-	NC_000017.11:g.63421400G>C	gnomAD
TANC2	Q9HCD6	p.Met1808Ile	rs903333643	missense variant	-	NC_000017.11:g.63421406G>A	gnomAD
TANC2	Q9HCD6	p.Glu1809Asp	rs760420318	missense variant	-	NC_000017.11:g.63421409G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu1809Gly	rs574785929	missense variant	-	NC_000017.11:g.63421408A>G	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Ile1810Phe	rs764063433	missense variant	-	NC_000017.11:g.63421410A>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1811Thr	rs753770664	missense variant	-	NC_000017.11:g.63421413C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1811Ala	rs753770664	missense variant	-	NC_000017.11:g.63421413C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1812Pro	rs761377618	missense variant	-	NC_000017.11:g.63421417T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1814Ser	rs764724684	missense variant	-	NC_000017.11:g.63421422C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr1816Cys	rs757992885	missense variant	-	NC_000017.11:g.63421429A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu1817Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421431G>A	NCI-TCGA
TANC2	Q9HCD6	p.Arg1818Lys	rs373701170	missense variant	-	NC_000017.11:g.63421435G>A	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1819Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421437T>C	NCI-TCGA
TANC2	Q9HCD6	p.Ser1819Ala	rs1489519891	missense variant	-	NC_000017.11:g.63421437T>G	gnomAD
TANC2	Q9HCD6	p.Cys1820Arg	rs751887014	missense variant	-	NC_000017.11:g.63421440T>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1821Asn	rs1268456704	missense variant	-	NC_000017.11:g.63421443G>A	gnomAD
TANC2	Q9HCD6	p.Glu1822Lys	rs1184582533	missense variant	-	NC_000017.11:g.63421446G>A	gnomAD
TANC2	Q9HCD6	p.Leu1823Met	rs1406287301	missense variant	-	NC_000017.11:g.63421449C>A	gnomAD
TANC2	Q9HCD6	p.Ser1824Leu	rs748669837	missense variant	-	NC_000017.11:g.63421453C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1826Ala	rs1438372391	missense variant	-	NC_000017.11:g.63421459T>C	TOPMed
TANC2	Q9HCD6	p.Ser1827Thr	COSM3520628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421461T>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Pro1828Ser	rs777943676	missense variant	-	NC_000017.11:g.63421464C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1829Ala	COSM437105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421467A>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Gln1830Pro	rs1370621479	missense variant	-	NC_000017.11:g.63421471A>C	gnomAD
TANC2	Q9HCD6	p.Gln1830Arg	rs1370621479	missense variant	-	NC_000017.11:g.63421471A>G	gnomAD
TANC2	Q9HCD6	p.Gly1832Val	rs1023719647	missense variant	-	NC_000017.11:g.63421477G>T	gnomAD
TANC2	Q9HCD6	p.Gly1832Asp	rs1023719647	missense variant	-	NC_000017.11:g.63421477G>A	gnomAD
TANC2	Q9HCD6	p.Pro1834Thr	rs1286037648	missense variant	-	NC_000017.11:g.63421482C>A	gnomAD
TANC2	Q9HCD6	p.Ser1835Thr	rs1372390913	missense variant	-	NC_000017.11:g.63421486G>C	gnomAD
TANC2	Q9HCD6	p.Ser1835Asn	rs1372390913	missense variant	-	NC_000017.11:g.63421486G>A	gnomAD
TANC2	Q9HCD6	p.Thr1838Ile	rs771240133	missense variant	-	NC_000017.11:g.63421495C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1838Ala	rs749401189	missense variant	-	NC_000017.11:g.63421494A>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1838Asn	rs771240133	missense variant	-	NC_000017.11:g.63421495C>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1839Gln	rs774755385	missense variant	-	NC_000017.11:g.63421498G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1840Cys	rs746800474	missense variant	-	NC_000017.11:g.63421501C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1850His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421530G>C	NCI-TCGA
TANC2	Q9HCD6	p.Ala1853Val	rs768395983	missense variant	-	NC_000017.11:g.63421540C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1854Trp	rs970401610	missense variant	-	NC_000017.11:g.63421542C>T	TOPMed
TANC2	Q9HCD6	p.Arg1854Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421543G>A	NCI-TCGA
TANC2	Q9HCD6	p.Thr1855Ala	rs1480517152	missense variant	-	NC_000017.11:g.63421545A>G	gnomAD
TANC2	Q9HCD6	p.Gln1857His	rs776631036	missense variant	-	NC_000017.11:g.63421553G>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Pro1859Leu	rs1416403749	missense variant	-	NC_000017.11:g.63421558C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.His1860Tyr	COSM3520632	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421560C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Leu1861Ile	rs981984324	missense variant	-	NC_000017.11:g.63421563C>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Leu1861His	rs907823428	missense variant	-	NC_000017.11:g.63421564T>A	gnomAD
TANC2	Q9HCD6	p.Leu1861Pro	rs907823428	missense variant	-	NC_000017.11:g.63421564T>C	gnomAD
TANC2	Q9HCD6	p.Gln1864His	rs765178482	missense variant	-	NC_000017.11:g.63421574G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1864Glu	rs1431062855	missense variant	-	NC_000017.11:g.63421572C>G	gnomAD
TANC2	Q9HCD6	p.Arg1866Gln	rs989488359	missense variant	-	NC_000017.11:g.63421579G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1866Trp	rs770059956	missense variant	-	NC_000017.11:g.63421578C>T	TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1867Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421581A>G	NCI-TCGA
TANC2	Q9HCD6	p.Val1870Leu	rs377595755	missense variant	-	NC_000017.11:g.63421590G>C	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1870Met	rs377595755	missense variant	-	NC_000017.11:g.63421590G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1873Leu	rs755364335	missense variant	-	NC_000017.11:g.63421599G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1875Ile	rs753119278	missense variant	-	NC_000017.11:g.63421606C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Val1876Ile	rs1271150693	missense variant	-	NC_000017.11:g.63421608G>A	gnomAD
TANC2	Q9HCD6	p.Val1876Gly	rs778455961	missense variant	-	NC_000017.11:g.63421609T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Thr1880Met	rs749349700	missense variant	-	NC_000017.11:g.63421621C>T	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn1884Ser	rs1249139588	missense variant	-	NC_000017.11:g.63421633A>G	gnomAD
TANC2	Q9HCD6	p.Asn1884His	rs779267258	missense variant	-	NC_000017.11:g.63421632A>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Asn1884Lys	rs746147775	missense variant	-	NC_000017.11:g.63421634C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Glu1889Lys	rs1050565017	missense variant	-	NC_000017.11:g.63421647G>A	gnomAD
TANC2	Q9HCD6	p.Pro1893Leu	rs748002519	missense variant	-	NC_000017.11:g.63421660C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1893Arg	rs748002519	missense variant	-	NC_000017.11:g.63421660C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Pro1894Ser	rs1397149525	missense variant	-	NC_000017.11:g.63421662C>T	TOPMed
TANC2	Q9HCD6	p.Pro1894Leu	rs769685607	missense variant	-	NC_000017.11:g.63421663C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Ile1897Val	rs773916129	missense variant	-	NC_000017.11:g.63421671A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ser1898Gly	rs1452005342	missense variant	-	NC_000017.11:g.63421674A>G	gnomAD
TANC2	Q9HCD6	p.Ala1901Thr	rs370984925	missense variant	-	NC_000017.11:g.63421683G>A	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Asn1904Ser	rs754457210	missense variant	-	NC_000017.11:g.63421693A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Asn1904Lys	rs1321882934	missense variant	-	NC_000017.11:g.63421694C>A	gnomAD
TANC2	Q9HCD6	p.Lys1905Glu	rs757412255	missense variant	-	NC_000017.11:g.63421695A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Asn1908Ser	rs375544808	missense variant	-	NC_000017.11:g.63421705A>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ala1909Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421707G>A	NCI-TCGA
TANC2	Q9HCD6	p.Gln1910His	rs1485733982	missense variant	-	NC_000017.11:g.63421712G>C	TOPMed
TANC2	Q9HCD6	p.Gln1910Glu	rs750533826	missense variant	-	NC_000017.11:g.63421710C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.His1913Tyr	rs758505350	missense variant	-	NC_000017.11:g.63421719C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1914Phe	rs780359922	missense variant	-	NC_000017.11:g.63421724G>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1915Pro	rs1192588877	missense variant	-	NC_000017.11:g.63421726T>C	gnomAD
TANC2	Q9HCD6	p.Glu1916Lys	COSM3520634	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421728G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Asp1918Asn	rs1426698867	missense variant	-	NC_000017.11:g.63421734G>A	TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1918Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421734G>T	NCI-TCGA
TANC2	Q9HCD6	p.Tyr1919His	rs747870086	missense variant	-	NC_000017.11:g.63421737T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Tyr1920Asp	COSM982578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421740T>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ser1921Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421744G>T	NCI-TCGA
TANC2	Q9HCD6	p.His1923Arg	rs769632418	missense variant	-	NC_000017.11:g.63421750A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.His1923Gln	rs777680802	missense variant	-	NC_000017.11:g.63421751T>G	ExAC,gnomAD
TANC2	Q9HCD6	p.His1923Tyr	rs1159713021	missense variant	-	NC_000017.11:g.63421749C>T	gnomAD
TANC2	Q9HCD6	p.Gly1924Glu	COSM4068543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421753G>A	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ala1927Gly	rs1325961295	missense variant	-	NC_000017.11:g.63421762C>G	gnomAD
TANC2	Q9HCD6	p.Gly1929Arg	rs1285447111	missense variant	-	NC_000017.11:g.63421767G>A	gnomAD
TANC2	Q9HCD6	p.Gly1929Val	rs773684889	missense variant	-	NC_000017.11:g.63421768G>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1931Cys	rs759117220	missense variant	-	NC_000017.11:g.63421773C>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1931His	rs370863314	missense variant	-	NC_000017.11:g.63421774G>A	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1931Pro	rs370863314	missense variant	-	NC_000017.11:g.63421774G>C	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gly1932Ala	rs1353264981	missense variant	-	NC_000017.11:g.63421777G>C	gnomAD
TANC2	Q9HCD6	p.Gly1932Arg	rs1377406981	missense variant	-	NC_000017.11:g.63421776G>A	TOPMed
TANC2	Q9HCD6	p.Leu1934Pro	rs764622235	missense variant	-	NC_000017.11:g.63421783T>C	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1934Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421782C>A	NCI-TCGA
TANC2	Q9HCD6	p.Glu1936Asp	rs754262922	missense variant	-	NC_000017.11:g.63421790G>T	ExAC,TOPMed
TANC2	Q9HCD6	p.Arg1937Gln	rs201832911	missense variant	-	NC_000017.11:g.63421792G>A	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Val1938Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421795T>A	NCI-TCGA
TANC2	Q9HCD6	p.Ser1939Asn	rs1368922867	missense variant	-	NC_000017.11:g.63421798G>A	gnomAD
TANC2	Q9HCD6	p.Gln1940Glu	rs765799716	missense variant	-	NC_000017.11:g.63421800C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1941Val	rs1345945576	missense variant	-	NC_000017.11:g.63421804C>T	TOPMed
TANC2	Q9HCD6	p.Ser1942Ala	rs373945647	missense variant	-	NC_000017.11:g.63421806T>G	ESP,ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Ser1942Phe	COSM3520638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421807C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Tyr1944Ser	rs1189327178	missense variant	-	NC_000017.11:g.63421813A>C	TOPMed
TANC2	Q9HCD6	p.Pro1945Ala	rs1413957077	missense variant	-	NC_000017.11:g.63421815C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Asp1946Asn	rs749717844	missense variant	-	NC_000017.11:g.63421818G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1947Met	rs771171549	missense variant	-	NC_000017.11:g.63421821G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Val1947Leu	rs771171549	missense variant	-	NC_000017.11:g.63421821G>C	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Lys1948Gln	rs998370777	missense variant	-	NC_000017.11:g.63421824A>C	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1951Gln	rs770815483	missense variant	-	NC_000017.11:g.63421834G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Thr1952Ser	rs778950132	missense variant	-	NC_000017.11:g.63421836A>T	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1953Pro	rs1237259444	missense variant	-	NC_000017.11:g.63421840T>C	gnomAD
TANC2	Q9HCD6	p.Ala1956Val	rs367931101	missense variant	-	NC_000017.11:g.63421849C>T	ESP,ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1957Lys	rs775003949	missense variant	-	NC_000017.11:g.63421851C>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Gln1957Glu	rs775003949	missense variant	-	NC_000017.11:g.63421851C>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Ala1958Thr	rs1289017515	missense variant	-	NC_000017.11:g.63421854G>A	gnomAD
TANC2	Q9HCD6	p.Ala1958Glu	rs1490034568	missense variant	-	NC_000017.11:g.63421855C>A	gnomAD
TANC2	Q9HCD6	p.Tyr1959His	rs1253466605	missense variant	-	NC_000017.11:g.63421857T>C	gnomAD
TANC2	Q9HCD6	p.Gln1960His	rs1435881746	missense variant	-	NC_000017.11:g.63421862G>C	gnomAD
TANC2	Q9HCD6	p.Asn1962Ser	rs768439807	missense variant	-	NC_000017.11:g.63421867A>G	ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1965Lys	rs777091535	missense variant	-	NC_000017.11:g.63421876G>A	ExAC,gnomAD
TANC2	Q9HCD6	p.Leu1967Val	rs1309017242	missense variant	-	NC_000017.11:g.63421881C>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Arg1969Gln	rs143701650	missense variant	-	NC_000017.11:g.63421888G>A	1000Genomes,ExAC,gnomAD
TANC2	Q9HCD6	p.Arg1969Ter	rs1161576286	stop gained	-	NC_000017.11:g.63421887C>T	gnomAD
TANC2	Q9HCD6	p.Ser1971Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.63421894C>T	NCI-TCGA
TANC2	Q9HCD6	p.Arg1972Gln	rs1308876722	missense variant	-	NC_000017.11:g.63421897G>A	gnomAD
TANC2	Q9HCD6	p.Arg1972Gly	rs765636470	missense variant	-	NC_000017.11:g.63421896C>G	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Gln1973Lys	rs989477132	missense variant	-	NC_000017.11:g.63421899C>A	TOPMed
TANC2	Q9HCD6	p.Ser1977Pro	rs1198931893	missense variant	-	NC_000017.11:g.63421911T>C	gnomAD
TANC2	Q9HCD6	p.Ser1977Phe	COSM3520640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421912C>T	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Ile1979Val	rs867097287	missense variant	-	NC_000017.11:g.63421917A>G	TOPMed,gnomAD
TANC2	Q9HCD6	p.Ile1979Met	COSM3795922	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.63421919C>G	NCI-TCGA Cosmic
TANC2	Q9HCD6	p.Lys1982Glu	rs1248851797	missense variant	-	NC_000017.11:g.63421926A>G	gnomAD
TANC2	Q9HCD6	p.Arg1983Lys	rs1313506114	missense variant	-	NC_000017.11:g.63421930G>A	gnomAD
TANC2	Q9HCD6	p.Pro1984Leu	rs1345026269	missense variant	-	NC_000017.11:g.63421933C>T	TOPMed
TANC2	Q9HCD6	p.Phe1985Ser	rs1194900179	missense variant	-	NC_000017.11:g.63421936T>C	gnomAD
TANC2	Q9HCD6	p.Val1986Met	rs755143983	missense variant	-	NC_000017.11:g.63421938G>A	ExAC,TOPMed,gnomAD
TANC2	Q9HCD6	p.Asn1989MetPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.63421947_63421948insTGATCCCC	NCI-TCGA
TANC2	Q9HCD6	p.Asn1989Asp	rs767758030	missense variant	-	NC_000017.11:g.63421947A>G	ExAC,TOPMed
CHST11	Q9NPF2	p.Lys2Thr	rs1315682263	missense variant	-	NC_000012.12:g.104457416A>C	TOPMed
CHST11	Q9NPF2	p.Lys2Glu	rs1397742557	missense variant	-	NC_000012.12:g.104457415A>G	gnomAD
CHST11	Q9NPF2	p.Ala4Val	rs779782743	missense variant	-	NC_000012.12:g.104457422C>T	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ala4Ser	rs758033699	missense variant	-	NC_000012.12:g.104457421G>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Ala4Glu	rs779782743	missense variant	-	NC_000012.12:g.104457422C>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Glu7Lys	rs1294348579	missense variant	-	NC_000012.12:g.104457430G>A	gnomAD
CHST11	Q9NPF2	p.Glu7Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104457432A>T	NCI-TCGA
CHST11	Q9NPF2	p.Val8Leu	rs1270126457	missense variant	-	NC_000012.12:g.104457433G>T	TOPMed,gnomAD
CHST11	Q9NPF2	p.Val8Glu	rs1453684266	missense variant	-	NC_000012.12:g.104457434T>A	gnomAD
CHST11	Q9NPF2	p.Met9Lys	rs749410967	missense variant	-	NC_000012.12:g.104457437T>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Met9Val	rs1324335474	missense variant	-	NC_000012.12:g.104457436A>G	gnomAD
CHST11	Q9NPF2	p.Arg10Lys	rs374980790	missense variant	-	NC_000012.12:g.104457440G>A	1000Genomes,ESP,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg10Thr	rs374980790	missense variant	-	NC_000012.12:g.104457440G>C	1000Genomes,ESP,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg10Met	rs374980790	missense variant	-	NC_000012.12:g.104457440G>T	1000Genomes,ESP,TOPMed,gnomAD
CHST11	Q9NPF2	p.Met11Leu	rs367648267	missense variant	-	NC_000012.12:g.104457442A>T	ESP,TOPMed
CHST11	Q9NPF2	p.Met11Arg	rs894608163	missense variant	-	NC_000012.12:g.104457443T>G	TOPMed,gnomAD
CHST11	Q9NPF2	p.Met11Ile	rs1218116202	missense variant	-	NC_000012.12:g.104457444G>A	TOPMed
CHST11	Q9NPF2	p.Arg13Lys	rs771170795	missense variant	-	NC_000012.12:g.104457449G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Ile14Val	rs1208614929	missense variant	-	NC_000012.12:g.104457451A>G	gnomAD
CHST11	Q9NPF2	p.Arg16Gly	rs774546652	missense variant	-	NC_000012.12:g.104457457C>G	ExAC,gnomAD
CHST11	Q9NPF2	p.Arg16Gln	rs1486664513	missense variant	-	NC_000012.12:g.104457458G>A	gnomAD
CHST11	Q9NPF2	p.Met17Ile	rs144598269	missense variant	-	NC_000012.12:g.104457462G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Met17Thr	rs149731216	missense variant	-	NC_000012.12:g.104457461T>C	ESP
CHST11	Q9NPF2	p.Met17Val	rs746147552	missense variant	-	NC_000012.12:g.104457460A>G	ExAC
CHST11	Q9NPF2	p.Met17Leu	rs746147552	missense variant	-	NC_000012.12:g.104457460A>T	ExAC
CHST11	Q9NPF2	p.Leu19Pro	rs191879618	missense variant	-	NC_000012.12:g.104457467T>C	1000Genomes
CHST11	Q9NPF2	p.Thr21Ile	rs1262781566	missense variant	-	NC_000012.12:g.104457473C>T	TOPMed
CHST11	Q9NPF2	p.Cys22Phe	rs761054661	missense variant	-	NC_000012.12:g.104457476G>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Gly24Glu	rs1321160570	missense variant	-	NC_000012.12:g.104457482G>A	TOPMed
CHST11	Q9NPF2	p.Phe26Leu	rs148490795	missense variant	-	NC_000012.12:g.104457489T>G	ESP,ExAC,gnomAD
CHST11	Q9NPF2	p.Leu28Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104457494T>G	NCI-TCGA
CHST11	Q9NPF2	p.Val29Gly	rs1434735195	missense variant	-	NC_000012.12:g.104457497T>G	gnomAD
CHST11	Q9NPF2	p.Phe31Leu	COSM3455370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104457504C>G	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Tyr32Cys	rs1267864440	missense variant	-	NC_000012.12:g.104457506A>G	TOPMed
CHST11	Q9NPF2	p.Tyr32IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.104457504C>-	NCI-TCGA
CHST11	Q9NPF2	p.Pro39Ser	rs1382231752	missense variant	-	NC_000012.12:g.104457526C>T	gnomAD
CHST11	Q9NPF2	p.Met41Thr	rs1334448459	missense variant	-	NC_000012.12:g.104601909T>C	gnomAD
CHST11	Q9NPF2	p.Arg42Gly	rs560982261	missense variant	-	NC_000012.12:g.104601911C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg42Gln	rs751265537	missense variant	-	NC_000012.12:g.104601912G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Arg42Gln	rs751265537	missense variant	-	NC_000012.12:g.104601912G>A	NCI-TCGA,NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Arg42Trp	rs560982261	missense variant	-	NC_000012.12:g.104601911C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg43Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104601916G>T	NCI-TCGA
CHST11	Q9NPF2	p.Asn44Lys	rs1309514255	missense variant	-	NC_000012.12:g.104601919T>A	TOPMed
CHST11	Q9NPF2	p.Asn44Ser	rs1177107880	missense variant	-	NC_000012.12:g.104601918A>G	gnomAD
CHST11	Q9NPF2	p.Asn44Tyr	rs1469232542	missense variant	-	NC_000012.12:g.104601917A>T	gnomAD
CHST11	Q9NPF2	p.Pro45Ser	rs1224400118	missense variant	-	NC_000012.12:g.104601920C>T	TOPMed
CHST11	Q9NPF2	p.Phe46Ser	rs1370351299	missense variant	-	NC_000012.12:g.104601924T>C	TOPMed
CHST11	Q9NPF2	p.Cys51Tyr	rs1302499312	missense variant	-	NC_000012.12:g.104601939G>A	TOPMed
CHST11	Q9NPF2	p.Cys52Tyr	rs759088814	missense variant	-	NC_000012.12:g.104601942G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Arg53Trp	rs767399314	missense variant	-	NC_000012.12:g.104601944C>T	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg53Gln	rs147660307	missense variant	-	NC_000012.12:g.104601945G>A	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg53Gln	rs147660307	missense variant	-	NC_000012.12:g.104601945G>A	NCI-TCGA
CHST11	Q9NPF2	p.Arg57Gln	COSM346997	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104601957G>A	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Ser58Arg	rs756121766	missense variant	-	NC_000012.12:g.104601959A>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Pro59Ala	rs750565191	missense variant	-	NC_000012.12:g.104601962C>G	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Pro59Ser	rs750565191	missense variant	-	NC_000012.12:g.104601962C>T	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Pro59Thr	rs750565191	missense variant	-	NC_000012.12:g.104601962C>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Tyr64Cys	COSM934262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104601978A>G	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Asn65Ser	rs1375460341	missense variant	-	NC_000012.12:g.104601981A>G	gnomAD
CHST11	Q9NPF2	p.Ile67Thr	rs779979438	missense variant	-	NC_000012.12:g.104601987T>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Leu69Pro	rs760385003	missense variant	-	NC_000012.12:g.104756950T>C	ExAC,TOPMed
CHST11	Q9NPF2	p.Leu69Val	rs1331592239	missense variant	-	NC_000012.12:g.104756949C>G	TOPMed
CHST11	Q9NPF2	p.Leu71Phe	rs764043426	missense variant	-	NC_000012.12:g.104756955C>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Ser72Pro	rs761815306	missense variant	-	NC_000012.12:g.104756958T>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Ser72Leu	rs1324917543	missense variant	-	NC_000012.12:g.104756959C>T	TOPMed
CHST11	Q9NPF2	p.Thr74Ile	rs1386894435	missense variant	-	NC_000012.12:g.104756965C>T	TOPMed
CHST11	Q9NPF2	p.Ala75Thr	rs765027997	missense variant	-	NC_000012.12:g.104756967G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Gln79His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104756981G>C	NCI-TCGA
CHST11	Q9NPF2	p.Arg81Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104756986G>T	NCI-TCGA
CHST11	Q9NPF2	p.Arg81Gln	COSM5040226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104756986G>A	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Arg81Trp	COSM3416414	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104756985C>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Arg82Trp	rs962938638	missense variant	-	NC_000012.12:g.104756988C>T	TOPMed
CHST11	Q9NPF2	p.Arg82Trp	rs962938638	missense variant	-	NC_000012.12:g.104756988C>T	NCI-TCGA
CHST11	Q9NPF2	p.Arg82Gln	rs767553479	missense variant	-	NC_000012.12:g.104756989G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Asp83Gly	rs531548327	missense variant	-	NC_000012.12:g.104756992A>G	1000Genomes
CHST11	Q9NPF2	p.Gln84Lys	rs1171840707	missense variant	-	NC_000012.12:g.104756994C>A	TOPMed
CHST11	Q9NPF2	p.Gln84Arg	rs1213176015	missense variant	-	NC_000012.12:g.104756995A>G	gnomAD
CHST11	Q9NPF2	p.Val85Gly	rs890008188	missense variant	-	NC_000012.12:g.104756998T>G	gnomAD
CHST11	Q9NPF2	p.Val85Leu	rs1465265548	missense variant	-	NC_000012.12:g.104756997G>T	gnomAD
CHST11	Q9NPF2	p.Asp87Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757003G>T	NCI-TCGA
CHST11	Q9NPF2	p.Thr88Met	rs1192792573	missense variant	-	NC_000012.12:g.104757007C>T	TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg90Gln	rs749545581	missense variant	-	NC_000012.12:g.104757013G>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg90Gly	rs778174141	missense variant	-	NC_000012.12:g.104757012C>G	ExAC,gnomAD
CHST11	Q9NPF2	p.Arg90Gln	rs749545581	missense variant	-	NC_000012.12:g.104757013G>A	NCI-TCGA,NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Ala94Thr	rs140550570	missense variant	-	NC_000012.12:g.104757024G>A	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ala94Pro	rs140550570	missense variant	-	NC_000012.12:g.104757024G>C	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Thr95Ile	rs112075588	missense variant	-	NC_000012.12:g.104757028C>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Thr95Lys	rs112075588	missense variant	-	NC_000012.12:g.104757028C>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Thr95Arg	rs112075588	missense variant	-	NC_000012.12:g.104757028C>G	ExAC,gnomAD
CHST11	Q9NPF2	p.Thr95Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757027A>G	NCI-TCGA
CHST11	Q9NPF2	p.Ser96Gly	rs1219052668	missense variant	-	NC_000012.12:g.104757030A>G	TOPMed
CHST11	Q9NPF2	p.Arg97Cys	rs1436190915	missense variant	-	NC_000012.12:g.104757033C>T	gnomAD
CHST11	Q9NPF2	p.Arg97His	rs150467488	missense variant	-	NC_000012.12:g.104757034G>A	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg99Trp	rs759769235	missense variant	-	NC_000012.12:g.104757039C>T	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg99Gln	rs138320785	missense variant	-	NC_000012.12:g.104757040G>A	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg99Gly	rs759769235	missense variant	-	NC_000012.12:g.104757039C>G	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg99Pro	rs138320785	missense variant	-	NC_000012.12:g.104757040G>C	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg100Gly	rs1276006485	missense variant	-	NC_000012.12:g.104757042A>G	gnomAD
CHST11	Q9NPF2	p.Val101Met	rs773060984	missense variant	-	NC_000012.12:g.104757045G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Val101Glu	rs1285849422	missense variant	-	NC_000012.12:g.104757046T>A	gnomAD
CHST11	Q9NPF2	p.Pro104Leu	rs1363740493	missense variant	-	NC_000012.12:g.104757055C>T	TOPMed
CHST11	Q9NPF2	p.Asn105Ser	rs762854414	missense variant	-	NC_000012.12:g.104757058A>G	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Asp106Asn	rs145169297	missense variant	-	NC_000012.12:g.104757060G>A	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Asp106His	rs145169297	missense variant	-	NC_000012.12:g.104757060G>C	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.His116Gln	rs764239451	missense variant	-	NC_000012.12:g.104757092C>G	ExAC,gnomAD
CHST11	Q9NPF2	p.Glu117Lys	COSM934263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757093G>A	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Ile119Leu	rs1342258519	missense variant	-	NC_000012.12:g.104757099A>C	TOPMed,gnomAD
CHST11	Q9NPF2	p.Cys121Ter	rs1414368138	stop gained	-	NC_000012.12:g.104757107C>A	gnomAD
CHST11	Q9NPF2	p.Cys121Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757106G>A	NCI-TCGA
CHST11	Q9NPF2	p.Tyr122Phe	rs1457954410	missense variant	-	NC_000012.12:g.104757109A>T	gnomAD
CHST11	Q9NPF2	p.Val123Met	rs750953406	missense variant	-	NC_000012.12:g.104757111G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Arg133Trp	rs1448807477	missense variant	-	NC_000012.12:g.104757141C>T	TOPMed
CHST11	Q9NPF2	p.Arg133Trp	rs1448807477	missense variant	-	NC_000012.12:g.104757141C>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Arg133Gln	COSM200209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757142G>A	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Leu134Phe	rs1389618311	missense variant	-	NC_000012.12:g.104757144C>T	TOPMed
CHST11	Q9NPF2	p.Met135Thr	rs779716339	missense variant	-	NC_000012.12:g.104757148T>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Met136Val	rs1335704550	missense variant	-	NC_000012.12:g.104757150A>G	gnomAD
CHST11	Q9NPF2	p.Met136Ile	rs746461296	missense variant	-	NC_000012.12:g.104757152G>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Val137Ile	rs1489204578	missense variant	-	NC_000012.12:g.104757153G>A	gnomAD
CHST11	Q9NPF2	p.Val137Ala	rs1186832093	missense variant	-	NC_000012.12:g.104757154T>C	TOPMed
CHST11	Q9NPF2	p.Thr139Ile	rs1451527053	missense variant	-	NC_000012.12:g.104757160C>T	TOPMed
CHST11	Q9NPF2	p.Gly140Arg	rs780670108	missense variant	-	NC_000012.12:g.104757162G>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Gly140Arg	rs780670108	missense variant	-	NC_000012.12:g.104757162G>A	NCI-TCGA
CHST11	Q9NPF2	p.Arg141Trp	rs1232266665	missense variant	-	NC_000012.12:g.104757165C>T	gnomAD
CHST11	Q9NPF2	p.Arg141Gln	rs374628300	missense variant	-	NC_000012.12:g.104757166G>A	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg141Trp	rs1232266665	missense variant	-	NC_000012.12:g.104757165C>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Lys143Met	rs1210226686	missense variant	-	NC_000012.12:g.104757172A>T	gnomAD
CHST11	Q9NPF2	p.Lys143Arg	rs1210226686	missense variant	-	NC_000012.12:g.104757172A>G	gnomAD
CHST11	Q9NPF2	p.Lys143Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757171A>G	NCI-TCGA
CHST11	Q9NPF2	p.Lys143Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757172A>C	NCI-TCGA
CHST11	Q9NPF2	p.Asp146Asn	rs762944913	missense variant	-	NC_000012.12:g.104757180G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Asp146Asn	rs762944913	missense variant	-	NC_000012.12:g.104757180G>A	NCI-TCGA
CHST11	Q9NPF2	p.Pro151Leu	rs371299013	missense variant	-	NC_000012.12:g.104757196C>T	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ala152Val	COSM3455372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757199C>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Glu154Ala	rs137859649	missense variant	-	NC_000012.12:g.104757205A>C	ESP,ExAC,gnomAD
CHST11	Q9NPF2	p.Glu154Lys	rs201140777	missense variant	-	NC_000012.12:g.104757204G>A	NCI-TCGA
CHST11	Q9NPF2	p.Glu154Lys	rs201140777	missense variant	-	NC_000012.12:g.104757204G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ala155Thr	rs568223914	missense variant	-	NC_000012.12:g.104757207G>A	1000Genomes,ExAC,gnomAD
CHST11	Q9NPF2	p.Val157Ile	rs765591058	missense variant	-	NC_000012.12:g.104757213G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Val157Phe	COSM691502	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757213G>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Ala159Val	rs751147954	missense variant	-	NC_000012.12:g.104757220C>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Ala159Ser	rs758987438	missense variant	-	NC_000012.12:g.104757219G>T	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ala159Thr	rs758987438	missense variant	-	NC_000012.12:g.104757219G>A	NCI-TCGA,NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Ala159Thr	rs758987438	missense variant	-	NC_000012.12:g.104757219G>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Asn160Ser	rs200936081	missense variant	-	NC_000012.12:g.104757223A>G	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Leu161Pro	rs747812654	missense variant	-	NC_000012.12:g.104757226T>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Leu161_Asn165del	VAR_081477	inframe_deletion	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) [MIM:618167]	-	UniProt
CHST11	Q9NPF2	p.Lys162Asn	rs757358769	missense variant	-	NC_000012.12:g.104757230G>C	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Gln166Leu	rs1210277340	missense variant	-	NC_000012.12:g.104757241A>T	TOPMed,gnomAD
CHST11	Q9NPF2	p.Tyr167Ter	rs770874557	stop gained	-	NC_000012.12:g.104757245C>G	ExAC,gnomAD
CHST11	Q9NPF2	p.Tyr167Ter	COSM4921138	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.104757245C>A	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Ser168LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.104757245_104757246insTTGCCTGA	NCI-TCGA
CHST11	Q9NPF2	p.Ser168Asn	COSM4672318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757247G>A	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Glu171Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.104757255G>T	NCI-TCGA
CHST11	Q9NPF2	p.Asn173Ser	rs1444343479	missense variant	-	NC_000012.12:g.104757262A>G	gnomAD
CHST11	Q9NPF2	p.His174Gln	rs745785558	missense variant	-	NC_000012.12:g.104757266C>G	ExAC,gnomAD
CHST11	Q9NPF2	p.His174Gln	rs745785558	missense variant	-	NC_000012.12:g.104757266C>A	ExAC,gnomAD
CHST11	Q9NPF2	p.His174Tyr	rs1188563357	missense variant	-	NC_000012.12:g.104757264C>T	gnomAD
CHST11	Q9NPF2	p.Arg175His	rs527621055	missense variant	-	NC_000012.12:g.104757268G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg175Cys	rs201920162	missense variant	-	NC_000012.12:g.104757267C>T	gnomAD
CHST11	Q9NPF2	p.Leu176Phe	COSM4826617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757272G>C	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Ser178Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757276A>G	NCI-TCGA
CHST11	Q9NPF2	p.Tyr179Cys	rs761946477	missense variant	-	NC_000012.12:g.104757280A>G	ExAC,gnomAD
CHST11	Q9NPF2	p.Met180Thr	rs765446759	missense variant	-	NC_000012.12:g.104757283T>C	ExAC
CHST11	Q9NPF2	p.Met180Leu	rs1015775127	missense variant	-	NC_000012.12:g.104757282A>T	TOPMed
CHST11	Q9NPF2	p.Arg186Gln	rs1396230324	missense variant	-	NC_000012.12:g.104757301G>A	TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg186Trp	rs1403794941	missense variant	-	NC_000012.12:g.104757300C>T	gnomAD
CHST11	Q9NPF2	p.Glu187Lys	COSM3870595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757303G>A	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Phe189Leu	rs773737557	missense variant	-	NC_000012.12:g.104757311C>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Phe189Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757310T>C	NCI-TCGA
CHST11	Q9NPF2	p.Glu190Lys	rs763372855	missense variant	-	NC_000012.12:g.104757312G>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Glu190Lys	rs763372855	missense variant	-	NC_000012.12:g.104757312G>A	NCI-TCGA,NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Arg191Lys	rs752158020	missense variant	-	NC_000012.12:g.104757316G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Leu192Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757319T>A	NCI-TCGA
CHST11	Q9NPF2	p.Val193Met	rs1347070916	missense variant	-	NC_000012.12:g.104757321G>A	gnomAD
CHST11	Q9NPF2	p.Ser194Pro	rs1278251473	missense variant	-	NC_000012.12:g.104757324T>C	gnomAD
CHST11	Q9NPF2	p.Ala195Thr	rs200986753	missense variant	-	NC_000012.12:g.104757327G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Ala195Pro	rs200986753	missense variant	-	NC_000012.12:g.104757327G>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Arg197His	rs142353826	missense variant	-	NC_000012.12:g.104757334G>A	ESP,TOPMed,gnomAD
CHST11	Q9NPF2	p.Gln202Arg	rs201004289	missense variant	-	NC_000012.12:g.104757349A>G	1000Genomes,ExAC,gnomAD
CHST11	Q9NPF2	p.Ile206Met	rs373587217	missense variant	-	NC_000012.12:g.104757362C>G	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ile206Phe	rs757081540	missense variant	-	NC_000012.12:g.104757360A>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Phe208Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757366T>A	NCI-TCGA
CHST11	Q9NPF2	p.His209ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.104757365_104757366insT	NCI-TCGA
CHST11	Q9NPF2	p.Arg211Leu	rs745873622	missense variant	-	NC_000012.12:g.104757376G>T	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg211Gln	rs745873622	missense variant	-	NC_000012.12:g.104757376G>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg211Trp	rs1466133972	missense variant	-	NC_000012.12:g.104757375C>T	gnomAD
CHST11	Q9NPF2	p.Lys218Gln	rs773612441	missense variant	-	NC_000012.12:g.104757396A>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Arg219His	rs766906152	missense variant	-	NC_000012.12:g.104757400G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Arg219Leu	rs766906152	missense variant	-	NC_000012.12:g.104757400G>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Arg219Cys	rs763247584	missense variant	-	NC_000012.12:g.104757399C>T	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Gln220Arg	rs1313972477	missense variant	-	NC_000012.12:g.104757403A>G	gnomAD
CHST11	Q9NPF2	p.Arg221Gln	rs1348803637	missense variant	-	NC_000012.12:g.104757406G>A	gnomAD
CHST11	Q9NPF2	p.Arg221Trp	rs759962153	missense variant	-	NC_000012.12:g.104757405C>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Lys222Glu	rs144669669	missense variant	-	NC_000012.12:g.104757408A>G	ESP,TOPMed
CHST11	Q9NPF2	p.Ala224Thr	rs148230565	missense variant	-	NC_000012.12:g.104757414G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ala224Pro	rs148230565	missense variant	-	NC_000012.12:g.104757414G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ala224Val	rs755609952	missense variant	-	NC_000012.12:g.104757415C>T	ExAC,gnomAD
CHST11	Q9NPF2	p.Ala228Val	rs187748990	missense variant	-	NC_000012.12:g.104757427C>T	1000Genomes,ExAC,gnomAD
CHST11	Q9NPF2	p.Ala228Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757427C>G	NCI-TCGA
CHST11	Q9NPF2	p.Arg230Leu	rs375679211	missense variant	-	NC_000012.12:g.104757433G>T	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Arg230Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757432C>T	NCI-TCGA
CHST11	Q9NPF2	p.Arg230His	rs375679211	missense variant	-	NC_000012.12:g.104757433G>A	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Asp234Asn	rs770160219	missense variant	-	NC_000012.12:g.104757444G>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Val235Asp	COSM4038200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757448T>A	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Phe237Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757455C>A	NCI-TCGA
CHST11	Q9NPF2	p.Glu238Lys	rs758294420	missense variant	-	NC_000012.12:g.104757456G>A	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Glu238Gly	rs1459696154	missense variant	-	NC_000012.12:g.104757457A>G	gnomAD
CHST11	Q9NPF2	p.Glu238Gln	rs758294420	missense variant	-	NC_000012.12:g.104757456G>C	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Glu238Asp	COSM4038201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757458G>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Val241Met	rs1481281701	missense variant	-	NC_000012.12:g.104757465G>A	TOPMed
CHST11	Q9NPF2	p.Tyr243Ser	rs780005312	missense variant	-	NC_000012.12:g.104757472A>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Ile245Val	rs746893347	missense variant	-	NC_000012.12:g.104757477A>G	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ile245Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757478T>A	NCI-TCGA
CHST11	Q9NPF2	p.Asp246Gly	rs1306366889	missense variant	-	NC_000012.12:g.104757481A>G	gnomAD
CHST11	Q9NPF2	p.Asp246Asn	rs1431608363	missense variant	-	NC_000012.12:g.104757480G>A	gnomAD
CHST11	Q9NPF2	p.Arg251Gln	rs1334559199	missense variant	-	NC_000012.12:g.104757496G>A	gnomAD
CHST11	Q9NPF2	p.Arg251Trp	rs1040579491	missense variant	-	NC_000012.12:g.104757495C>T	TOPMed,gnomAD
CHST11	Q9NPF2	p.Glu252Lys	rs771207447	missense variant	-	NC_000012.12:g.104757498G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Glu253Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757502A>C	NCI-TCGA
CHST11	Q9NPF2	p.Glu253Asp	COSM934266	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757503G>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Pro254Ser	rs1489092828	missense variant	-	NC_000012.12:g.104757504C>T	gnomAD
CHST11	Q9NPF2	p.Pro254Thr	rs1489092828	missense variant	-	NC_000012.12:g.104757504C>A	gnomAD
CHST11	Q9NPF2	p.Phe255Leu	rs1195791519	missense variant	-	NC_000012.12:g.104757509C>A	TOPMed,gnomAD
CHST11	Q9NPF2	p.Glu257Lys	rs947193135	missense variant	-	NC_000012.12:g.104757513G>A	TOPMed
CHST11	Q9NPF2	p.Trp259Arg	rs1473302019	missense variant	-	NC_000012.12:g.104757519T>C	gnomAD
CHST11	Q9NPF2	p.Thr261Ile	rs1182404881	missense variant	-	NC_000012.12:g.104757526C>T	TOPMed,gnomAD
CHST11	Q9NPF2	p.Thr261Pro	COSM4038202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757525A>C	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Val262Ile	rs776103813	missense variant	-	NC_000012.12:g.104757528G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.CysHis266Ter	rs1461393817	stop gained	-	NC_000012.12:g.104757542_104757543del	gnomAD
CHST11	Q9NPF2	p.His267Tyr	rs1296431757	missense variant	-	NC_000012.12:g.104757543C>T	gnomAD
CHST11	Q9NPF2	p.His272Arg	rs1456930882	missense variant	-	NC_000012.12:g.104757559A>G	TOPMed
CHST11	Q9NPF2	p.His272Tyr	COSM3455375	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757558C>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Asp274Val	rs900419455	missense variant	-	NC_000012.12:g.104757565A>T	TOPMed
CHST11	Q9NPF2	p.Asp274Asn	rs1039005602	missense variant	-	NC_000012.12:g.104757564G>A	TOPMed,gnomAD
CHST11	Q9NPF2	p.Asp274His	rs1039005602	missense variant	-	NC_000012.12:g.104757564G>C	TOPMed,gnomAD
CHST11	Q9NPF2	p.Asp274Glu	rs761468974	missense variant	-	NC_000012.12:g.104757566C>G	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Leu275Phe	rs764821818	missense variant	-	NC_000012.12:g.104757567C>T	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Val276Met	rs758257983	missense variant	-	NC_000012.12:g.104757570G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Tyr279Ter	rs779695030	stop gained	-	NC_000012.12:g.104757581C>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Glu280Asp	COSM3967939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757584G>C	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Glu283Lys	rs751574857	missense variant	-	NC_000012.12:g.104757591G>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Glu284Asp	COSM3416416	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757596G>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Asp285Glu	rs1273148539	missense variant	-	NC_000012.12:g.104757599T>A	gnomAD
CHST11	Q9NPF2	p.Asp285Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757598A>G	NCI-TCGA
CHST11	Q9NPF2	p.Val289Ile	rs150778990	missense variant	-	NC_000012.12:g.104757609G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Ala293Ser	rs1482069541	missense variant	-	NC_000012.12:g.104757621G>T	gnomAD
CHST11	Q9NPF2	p.Gly294Arg	rs1183278790	missense variant	-	NC_000012.12:g.104757624G>A	gnomAD
CHST11	Q9NPF2	p.Pro302Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757648C>T	NCI-TCGA
CHST11	Q9NPF2	p.Pro302Leu	COSM3455376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757649C>T	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Thr303Pro	rs779155570	missense variant	-	NC_000012.12:g.104757651A>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Thr303Ile	rs1378459312	missense variant	-	NC_000012.12:g.104757652C>T	TOPMed,gnomAD
CHST11	Q9NPF2	p.Lys306Arg	rs1237957348	missense variant	-	NC_000012.12:g.104757661A>G	gnomAD
CHST11	Q9NPF2	p.Thr308Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757667C>T	NCI-TCGA
CHST11	Q9NPF2	p.Thr308Pro	rs746045401	missense variant	-	NC_000012.12:g.104757666A>C	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Thr308Ala	rs746045401	missense variant	-	NC_000012.12:g.104757666A>G	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Glu313Asp	rs772534949	missense variant	-	NC_000012.12:g.104757683A>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Glu313Lys	COSM3792124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757681G>A	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Met314Ile	rs1434649038	missense variant	-	NC_000012.12:g.104757686G>T	TOPMed
CHST11	Q9NPF2	p.Glu317Asp	rs761251103	missense variant	-	NC_000012.12:g.104757695A>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Glu317Ter	rs775701869	stop gained	-	NC_000012.12:g.104757693G>T	ExAC
CHST11	Q9NPF2	p.Phe318Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757698C>A	NCI-TCGA
CHST11	Q9NPF2	p.Ile322Val	rs1023049855	missense variant	-	NC_000012.12:g.104757708A>G	TOPMed
CHST11	Q9NPF2	p.Glu325Asp	rs529714210	missense variant	-	NC_000012.12:g.104757719G>C	TOPMed
CHST11	Q9NPF2	p.Glu325Gly	rs1322946006	missense variant	-	NC_000012.12:g.104757718A>G	TOPMed
CHST11	Q9NPF2	p.Glu325Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.104757717G>T	NCI-TCGA
CHST11	Q9NPF2	p.His326Asn	rs1374991787	missense variant	-	NC_000012.12:g.104757720C>A	gnomAD
CHST11	Q9NPF2	p.His326Gln	rs769094029	missense variant	-	NC_000012.12:g.104757722C>G	ExAC,gnomAD
CHST11	Q9NPF2	p.His326Tyr	rs1374991787	missense variant	-	NC_000012.12:g.104757720C>T	gnomAD
CHST11	Q9NPF2	p.Gln327Lys	rs776141915	missense variant	-	NC_000012.12:g.104757723C>A	ExAC,gnomAD
CHST11	Q9NPF2	p.Thr328Met	rs887814138	missense variant	-	NC_000012.12:g.104757727C>T	TOPMed,gnomAD
CHST11	Q9NPF2	p.Gln329Leu	rs764698900	missense variant	-	NC_000012.12:g.104757730A>T	ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Tyr331Cys	COSM691500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757736A>G	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Glu332Lys	rs139158533	missense variant	-	NC_000012.12:g.104757738G>A	ESP,ExAC,TOPMed,gnomAD
CHST11	Q9NPF2	p.Val333Ala	rs1309982184	missense variant	-	NC_000012.12:g.104757742T>C	gnomAD
CHST11	Q9NPF2	p.Asp337Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.104757753G>A	NCI-TCGA
CHST11	Q9NPF2	p.Met340Thr	rs751243533	missense variant	-	NC_000012.12:g.104757763T>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Asn342Lys	COSM934268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757770T>G	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Tyr343Cys	COSM274547	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.104757772A>G	NCI-TCGA Cosmic
CHST11	Q9NPF2	p.Ser344Pro	rs754975544	missense variant	-	NC_000012.12:g.104757774T>C	ExAC,gnomAD
CHST11	Q9NPF2	p.Leu351Trp	rs754001693	missense variant	-	NC_000012.12:g.104757796T>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg3Gly	rs1007426680	missense variant	-	NC_000003.12:g.111072024C>G	TOPMed
NECTIN3	Q9NQS3	p.Thr4Asn	rs767788694	missense variant	-	NC_000003.12:g.111072028C>A	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro7Arg	rs1235532043	missense variant	-	NC_000003.12:g.111072037C>G	gnomAD
NECTIN3	Q9NQS3	p.Pro7Ser	rs1212039975	missense variant	-	NC_000003.12:g.111072036C>T	gnomAD
NECTIN3	Q9NQS3	p.Ser8Tyr	rs372423621	missense variant	-	NC_000003.12:g.111072040C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro9Gln	rs1194346576	missense variant	-	NC_000003.12:g.111072043C>A	gnomAD
NECTIN3	Q9NQS3	p.Pro9Leu	rs1194346576	missense variant	-	NC_000003.12:g.111072043C>T	gnomAD
NECTIN3	Q9NQS3	p.Leu10Pro	rs1264650947	missense variant	-	NC_000003.12:g.111072046T>C	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro12Leu	rs1362211495	missense variant	-	NC_000003.12:g.111072052C>T	gnomAD
NECTIN3	Q9NQS3	p.Pro12Ser	rs1009912215	missense variant	-	NC_000003.12:g.111072051C>T	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Gly13Arg	rs1425515374	missense variant	-	NC_000003.12:g.111072054G>A	gnomAD
NECTIN3	Q9NQS3	p.Gly15Asp	rs1219949704	missense variant	-	NC_000003.12:g.111072061G>A	gnomAD
NECTIN3	Q9NQS3	p.Gly15Cys	rs1321257802	missense variant	-	NC_000003.12:g.111072060G>T	TOPMed
NECTIN3	Q9NQS3	p.Leu19Arg	rs1414651026	missense variant	-	NC_000003.12:g.111072073T>G	gnomAD
NECTIN3	Q9NQS3	p.Ser20Phe	rs1021668826	missense variant	-	NC_000003.12:g.111072076C>T	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ser21Pro	rs968408090	missense variant	-	NC_000003.12:g.111072078T>C	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ser21Ala	rs968408090	missense variant	-	NC_000003.12:g.111072078T>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ala22Val	rs1276200630	missense variant	-	NC_000003.12:g.111072082C>T	gnomAD
NECTIN3	Q9NQS3	p.Ala22Thr	rs144247865	missense variant	-	NC_000003.12:g.111072081G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ser23Phe	rs754344010	missense variant	-	NC_000003.12:g.111072085C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Leu24Val	rs1217225030	missense variant	-	NC_000003.12:g.111072087C>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu24His	rs1288129014	missense variant	-	NC_000003.12:g.111072088T>A	gnomAD
NECTIN3	Q9NQS3	p.Leu24Phe	rs1217225030	missense variant	-	NC_000003.12:g.111072087C>T	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu25Val	rs199677974	missense variant	-	NC_000003.12:g.111072090C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu25Ile	rs199677974	missense variant	-	NC_000003.12:g.111072090C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ala27Gly	rs557315188	missense variant	-	NC_000003.12:g.111072097C>G	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Leu29Phe	rs994349507	missense variant	-	NC_000003.12:g.111072102C>T	gnomAD
NECTIN3	Q9NQS3	p.Leu29Arg	rs1216092261	missense variant	-	NC_000003.12:g.111072103T>G	TOPMed
NECTIN3	Q9NQS3	p.Pro33Ser	rs1026711299	missense variant	-	NC_000003.12:g.111072114C>T	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro33Arg	rs1438821689	missense variant	-	NC_000003.12:g.111072115C>G	gnomAD
NECTIN3	Q9NQS3	p.Pro34ArgPheSerTerUnkUnk	COSM1417694	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111072114C>-	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Pro34Ala	rs1301590732	missense variant	-	NC_000003.12:g.111072117C>G	gnomAD
NECTIN3	Q9NQS3	p.Pro34Arg	rs1369937785	missense variant	-	NC_000003.12:g.111072118C>G	gnomAD
NECTIN3	Q9NQS3	p.Thr35Ala	rs1240690449	missense variant	-	NC_000003.12:g.111072120A>G	gnomAD
NECTIN3	Q9NQS3	p.Pro37Leu	rs1298581473	missense variant	-	NC_000003.12:g.111072127C>T	TOPMed
NECTIN3	Q9NQS3	p.Pro37Ser	rs1351343732	missense variant	-	NC_000003.12:g.111072126C>T	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro38Arg	rs577495163	missense variant	-	NC_000003.12:g.111072130C>G	1000Genomes,TOPMed
NECTIN3	Q9NQS3	p.Pro38Leu	rs577495163	missense variant	-	NC_000003.12:g.111072130C>T	1000Genomes,TOPMed
NECTIN3	Q9NQS3	p.Pro38Ser	rs1204483580	missense variant	-	NC_000003.12:g.111072129C>T	gnomAD
NECTIN3	Q9NQS3	p.Leu39Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111072133T>C	NCI-TCGA
NECTIN3	Q9NQS3	p.Leu40Val	rs746689632	missense variant	-	NC_000003.12:g.111072135C>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Leu42Pro	rs1454095387	missense variant	-	NC_000003.12:g.111072142T>C	gnomAD
NECTIN3	Q9NQS3	p.Phe44Leu	rs1382555236	missense variant	-	NC_000003.12:g.111072149C>A	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro45Ser	rs200790665	missense variant	-	NC_000003.12:g.111072150C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro45Leu	rs1158522406	missense variant	-	NC_000003.12:g.111072151C>T	gnomAD
NECTIN3	Q9NQS3	p.Ser50Pro	rs1333041875	missense variant	-	NC_000003.12:g.111072165T>C	gnomAD
NECTIN3	Q9NQS3	p.Arg51Thr	rs1284749074	missense variant	-	NC_000003.12:g.111072169G>C	gnomAD
NECTIN3	Q9NQS3	p.Arg51Ser	rs1357843369	missense variant	-	NC_000003.12:g.111072170G>T	gnomAD
NECTIN3	Q9NQS3	p.Arg51Gly	rs1238213906	missense variant	-	NC_000003.12:g.111072168A>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu52Ile	rs542134138	missense variant	-	NC_000003.12:g.111072171C>A	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu52Val	rs542134138	missense variant	-	NC_000003.12:g.111072171C>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu52Pro	rs1271999736	missense variant	-	NC_000003.12:g.111072172T>C	gnomAD
NECTIN3	Q9NQS3	p.Leu52Phe	rs542134138	missense variant	-	NC_000003.12:g.111072171C>T	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Cys53Arg	rs942704126	missense variant	-	NC_000003.12:g.111072174T>C	TOPMed
NECTIN3	Q9NQS3	p.Ala55Thr	rs1455011236	missense variant	-	NC_000003.12:g.111112032G>A	gnomAD
NECTIN3	Q9NQS3	p.Ala55Val	rs544009917	missense variant	-	NC_000003.12:g.111112033C>T	TOPMed
NECTIN3	Q9NQS3	p.Ala57Val	rs771045467	missense variant	-	NC_000003.12:g.111112039C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ala57Thr	rs747000031	missense variant	-	NC_000003.12:g.111112038G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ile60Val	rs1319019714	missense variant	-	NC_000003.12:g.111112047A>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val62Ala	rs746123789	missense variant	-	NC_000003.12:g.111112054T>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Val62Leu	rs776675701	missense variant	-	NC_000003.12:g.111112053G>C	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Glu63Val	rs1269868004	missense variant	-	NC_000003.12:g.111112057A>T	gnomAD
NECTIN3	Q9NQS3	p.His65Tyr	COSM1036199	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112062C>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Ala68Thr	rs770260933	missense variant	-	NC_000003.12:g.111112071G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gly71Ala	rs776037424	missense variant	-	NC_000003.12:g.111112081G>C	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Lys72Asn	rs763550976	missense variant	-	NC_000003.12:g.111112085G>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Asn73ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.111112086_111112087insCTGAGGTAGAAGATTCAGTTACATC	NCI-TCGA
NECTIN3	Q9NQS3	p.Lys77Arg	rs764757077	missense variant	-	NC_000003.12:g.111112099A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys77Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112100G>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Leu79Ser	COSM3800870	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112105T>C	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Ile80Val	rs199883976	missense variant	-	NC_000003.12:g.111112107A>G	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asn83Ile	rs1036845546	missense variant	-	NC_000003.12:g.111112117A>T	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asn83Asp	rs1356017015	missense variant	-	NC_000003.12:g.111112116A>G	TOPMed
NECTIN3	Q9NQS3	p.Asn83Ser	rs1036845546	missense variant	-	NC_000003.12:g.111112117A>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr85Ala	rs761163765	missense variant	-	NC_000003.12:g.111112122A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Thr85Ile	rs1246994842	missense variant	-	NC_000003.12:g.111112123C>T	gnomAD
NECTIN3	Q9NQS3	p.Ile86Val	rs767088764	missense variant	-	NC_000003.12:g.111112125A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Thr87Ile	rs749998282	missense variant	-	NC_000003.12:g.111112129C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gln88His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112133G>C	NCI-TCGA
NECTIN3	Q9NQS3	p.Gln88Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112132A>G	NCI-TCGA
NECTIN3	Q9NQS3	p.Trp91Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.111112142G>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Glu92Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112143G>C	NCI-TCGA
NECTIN3	Q9NQS3	p.Lys97Arg	rs755848393	missense variant	-	NC_000003.12:g.111112159A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Lys97Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112158A>G	NCI-TCGA
NECTIN3	Q9NQS3	p.Ser98Thr	rs1468910964	missense variant	-	NC_000003.12:g.111112162G>C	TOPMed
NECTIN3	Q9NQS3	p.Ser99Leu	rs753688037	missense variant	-	NC_000003.12:g.111112165C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gln100Lys	rs1426597439	missense variant	-	NC_000003.12:g.111112167C>A	TOPMed
NECTIN3	Q9NQS3	p.Gln100Leu	rs1410208045	missense variant	-	NC_000003.12:g.111112168A>T	gnomAD
NECTIN3	Q9NQS3	p.Thr101Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112171C>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Ala103Thr	rs1317888347	missense variant	-	NC_000003.12:g.111112176G>A	gnomAD
NECTIN3	Q9NQS3	p.His105Arg	rs752708825	missense variant	-	NC_000003.12:g.111112183A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gln108Arg	rs1370012514	missense variant	-	NC_000003.12:g.111112192A>G	gnomAD
NECTIN3	Q9NQS3	p.Phe111Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112202C>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Val113Ile	rs574134938	missense variant	-	NC_000003.12:g.111112206G>A	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Val113Phe	rs574134938	missense variant	-	NC_000003.12:g.111112206G>T	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gln114Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112210A>G	NCI-TCGA
NECTIN3	Q9NQS3	p.Gly115Ala	rs1175952960	missense variant	-	NC_000003.12:g.111112213G>C	TOPMed
NECTIN3	Q9NQS3	p.Gly115Ter	rs201919059	stop gained	-	NC_000003.12:g.111112212G>T	1000Genomes,ExAC
NECTIN3	Q9NQS3	p.Gln118Glu	rs1222768124	missense variant	-	NC_000003.12:g.111112221C>G	gnomAD
NECTIN3	Q9NQS3	p.Arg120Thr	COSM1149541	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112228G>C	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Arg120Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112228G>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Lys124Asn	rs1211462911	missense variant	-	NC_000003.12:g.111112241A>T	gnomAD
NECTIN3	Q9NQS3	p.Asn129Ser	rs1259330906	missense variant	-	NC_000003.12:g.111112255A>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp130His	rs1233756314	missense variant	-	NC_000003.12:g.111112257G>C	TOPMed
NECTIN3	Q9NQS3	p.Ile133Val	rs1251497860	missense variant	-	NC_000003.12:g.111112266A>G	gnomAD
NECTIN3	Q9NQS3	p.Thr134Ser	rs913993701	missense variant	-	NC_000003.12:g.111112270C>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr134Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112269A>G	NCI-TCGA
NECTIN3	Q9NQS3	p.His136Arg	rs1235155641	missense variant	-	NC_000003.12:g.111112276A>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile138Thr	rs1418707809	missense variant	-	NC_000003.12:g.111112282T>C	gnomAD
NECTIN3	Q9NQS3	p.Ile138Val	rs762409264	missense variant	-	NC_000003.12:g.111112281A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ser141Phe	rs771465802	missense variant	-	NC_000003.12:g.111112291C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys145Arg	rs772841599	missense variant	-	NC_000003.12:g.111112303A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ile147Asn	COSM6162746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112309T>A	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Ile147Val	rs556290012	missense variant	-	NC_000003.12:g.111112308A>G	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys149Glu	rs1389553139	missense variant	-	NC_000003.12:g.111112314A>G	TOPMed
NECTIN3	Q9NQS3	p.Val151Ile	COSM4112139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111112320G>A	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Thr152Ile	rs753490691	missense variant	-	NC_000003.12:g.111112324C>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro154Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112330C>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Gly156Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112336G>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Gly156Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.111112335G>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Ala158Thr	rs752554749	missense variant	-	NC_000003.12:g.111112341G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ala158Ser	rs752554749	missense variant	-	NC_000003.12:g.111112341G>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser161Phe	rs756277129	missense variant	-	NC_000003.12:g.111112351C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser161Cys	rs756277129	missense variant	-	NC_000003.12:g.111112351C>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Thr162Ala	rs374717215	missense variant	-	NC_000003.12:g.111112353A>G	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val164Leu	rs1466134871	missense variant	-	NC_000003.12:g.111112359G>C	TOPMed
NECTIN3	Q9NQS3	p.Thr165Ala	rs1258293741	missense variant	-	NC_000003.12:g.111112362A>G	gnomAD
NECTIN3	Q9NQS3	p.Thr165Asn	rs367641275	missense variant	-	NC_000003.12:g.111112363C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val166Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111112365G>C	NCI-TCGA
NECTIN3	Q9NQS3	p.Thr171Ile	rs572328559	missense variant	-	NC_000003.12:g.111118665C>T	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr171Ala	rs143940513	missense variant	-	NC_000003.12:g.111118664A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val172Met	rs754093690	missense variant	-	NC_000003.12:g.111118667G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser173Asn	rs755272347	missense variant	-	NC_000003.12:g.111118671G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ile175Thr	rs1311698226	missense variant	-	NC_000003.12:g.111118677T>C	gnomAD
NECTIN3	Q9NQS3	p.Ile175Leu	rs576258987	missense variant	-	NC_000003.12:g.111118676A>T	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Pro178Arg	rs564972526	missense variant	-	NC_000003.12:g.111118686C>G	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Asp179Glu	rs778300135	missense variant	-	NC_000003.12:g.111118690T>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser180Tyr	COSM1036201	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118692C>A	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Ser180Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111118692C>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Ser180Ala	rs747534825	missense variant	-	NC_000003.12:g.111118691T>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Leu181Val	rs770404577	missense variant	-	NC_000003.12:g.111118694T>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ile182Val	rs752996530	missense variant	-	NC_000003.12:g.111118697A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile182Leu	rs752996530	missense variant	-	NC_000003.12:g.111118697A>C	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile182Thr	rs769544174	missense variant	-	NC_000003.12:g.111118698T>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gly184Val	rs775020272	missense variant	-	NC_000003.12:g.111118704G>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gly185Arg	rs762744542	missense variant	-	NC_000003.12:g.111118706G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gly185Ter	rs762744542	stop gained	-	NC_000003.12:g.111118706G>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gly185Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111118707G>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Asn186Tyr	COSM1136910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118709A>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Asn186Ser	rs1386128608	missense variant	-	NC_000003.12:g.111118710A>G	TOPMed
NECTIN3	Q9NQS3	p.Glu187Lys	rs1365308988	missense variant	-	NC_000003.12:g.111118712G>A	TOPMed
NECTIN3	Q9NQS3	p.Thr188Ile	rs201067228	missense variant	-	NC_000003.12:g.111118716C>T	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ala190Val	rs1396692549	missense variant	-	NC_000003.12:g.111118722C>T	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile192Val	rs766539447	missense variant	-	NC_000003.12:g.111118727A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Cys193Ser	rs370798352	missense variant	-	NC_000003.12:g.111118731G>C	ESP,ExAC
NECTIN3	Q9NQS3	p.Ile194Met	rs755022112	missense variant	-	NC_000003.12:g.111118735C>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Thr197Ala	rs1286743597	missense variant	-	NC_000003.12:g.111118742A>G	gnomAD
NECTIN3	Q9NQS3	p.Pro200Leu	COSM3585183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118752C>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Val201Ile	rs778158059	missense variant	-	NC_000003.12:g.111118754G>A	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp205Asn	rs757827364	missense variant	-	NC_000003.12:g.111118766G>A	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp205His	rs757827364	missense variant	-	NC_000003.12:g.111118766G>C	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp209Gly	rs1439301902	missense variant	-	NC_000003.12:g.111118779A>G	gnomAD
NECTIN3	Q9NQS3	p.Ser215Tyr	rs1301264689	missense variant	-	NC_000003.12:g.111118797C>A	gnomAD
NECTIN3	Q9NQS3	p.Thr217Ala	rs1317577704	missense variant	-	NC_000003.12:g.111118802A>G	gnomAD
NECTIN3	Q9NQS3	p.Ser219Tyr	rs973070624	missense variant	-	NC_000003.12:g.111118809C>A	gnomAD
NECTIN3	Q9NQS3	p.Ser219Pro	rs925619291	missense variant	-	NC_000003.12:g.111118808T>C	TOPMed
NECTIN3	Q9NQS3	p.Phe220Leu	rs780667030	missense variant	-	NC_000003.12:g.111118811T>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Phe220Ser	rs1231941338	missense variant	-	NC_000003.12:g.111118812T>C	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr224Ala	rs1259040473	missense variant	-	NC_000003.12:g.111118823A>G	gnomAD
NECTIN3	Q9NQS3	p.Thr224Met	rs376114520	missense variant	-	NC_000003.12:g.111118824C>T	ESP,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ala225Glu	rs542237553	missense variant	-	NC_000003.12:g.111118827C>A	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr226Met	rs1190549551	missense variant	-	NC_000003.12:g.111118830C>T	gnomAD
NECTIN3	Q9NQS3	p.Thr226Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111118829A>G	NCI-TCGA
NECTIN3	Q9NQS3	p.Ile228Ser	rs1197645447	missense variant	-	NC_000003.12:g.111118836T>G	TOPMed
NECTIN3	Q9NQS3	p.Gln230Glu	rs529321606	missense variant	-	NC_000003.12:g.111118841C>G	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gln230His	rs1259300768	missense variant	-	NC_000003.12:g.111118843G>C	gnomAD
NECTIN3	Q9NQS3	p.Lys232Asn	rs761824560	missense variant	-	NC_000003.12:g.111118849G>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Phe234Leu	rs895541966	missense variant	-	NC_000003.12:g.111118855T>A	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ala239Ser	rs1166692156	missense variant	-	NC_000003.12:g.111118868G>T	gnomAD
NECTIN3	Q9NQS3	p.Ala239Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111118868G>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Arg240Thr	COSM6162744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118872G>C	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Arg242Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111118878G>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Arg243Ter	rs773299824	stop gained	-	NC_000003.12:g.111118880C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Arg243Gln	rs368391163	missense variant	-	NC_000003.12:g.111118881G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg243Leu	rs368391163	missense variant	-	NC_000003.12:g.111118881G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr245Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111118887C>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Val247Ala	rs372289790	missense variant	-	NC_000003.12:g.111118893T>C	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val248Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111118895G>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Val248Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111118896T>C	NCI-TCGA
NECTIN3	Q9NQS3	p.Ala252Val	rs752935419	missense variant	-	NC_000003.12:g.111118908C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys255Glu	rs763134788	missense variant	-	NC_000003.12:g.111118916A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys255Arg	rs764429627	missense variant	-	NC_000003.12:g.111118917A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile257Met	rs757622930	missense variant	-	NC_000003.12:g.111118924C>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile257Val	rs751987371	missense variant	-	NC_000003.12:g.111118922A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile257Phe	rs751987371	missense variant	-	NC_000003.12:g.111118922A>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Tyr259Cys	COSM1417696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118929A>G	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Tyr259His	COSM4112141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118928T>C	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Ser260Phe	rs993043168	missense variant	-	NC_000003.12:g.111118932C>T	gnomAD
NECTIN3	Q9NQS3	p.Ile262Met	rs1016816925	missense variant	-	NC_000003.12:g.111118939A>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu263Val	COSM1134181	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111118940T>G	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Ile265Val	rs750914247	missense variant	-	NC_000003.12:g.111118946A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gln266Arg	rs755608153	missense variant	-	NC_000003.12:g.111118950A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Gln266Leu	rs755608153	missense variant	-	NC_000003.12:g.111118950A>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ala268Thr	rs1186791584	missense variant	-	NC_000003.12:g.111122123G>A	gnomAD
NECTIN3	Q9NQS3	p.Ser272Leu	rs200520350	missense variant	-	NC_000003.12:g.111122136C>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val273Ile	rs762115608	missense variant	-	NC_000003.12:g.111122138G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Val273Leu	rs762115608	missense variant	-	NC_000003.12:g.111122138G>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Thr274Ile	COSM1149542	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111122142C>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Asp277Asn	rs1435893649	missense variant	-	NC_000003.12:g.111122150G>A	gnomAD
NECTIN3	Q9NQS3	p.Asp277Val	rs750909227	missense variant	-	NC_000003.12:g.111122151A>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Asn279His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111122156A>C	NCI-TCGA
NECTIN3	Q9NQS3	p.Val282Ile	rs1373736360	missense variant	-	NC_000003.12:g.111122165G>A	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val282Leu	rs1373736360	missense variant	-	NC_000003.12:g.111122165G>C	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Lys285Glu	rs779599842	missense variant	-	NC_000003.12:g.111122174A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gly286Ser	rs753352009	missense variant	-	NC_000003.12:g.111122177G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gly286Asp	rs1212527241	missense variant	-	NC_000003.12:g.111122178G>A	gnomAD
NECTIN3	Q9NQS3	p.Ala293IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.111122197_111122198insATACATGATAAAATATTAA	NCI-TCGA
NECTIN3	Q9NQS3	p.Asp294Gly	rs1039212311	missense variant	-	NC_000003.12:g.111122202A>G	gnomAD
NECTIN3	Q9NQS3	p.Ala295Gly	rs1236432429	missense variant	-	NC_000003.12:g.111122205C>G	gnomAD
NECTIN3	Q9NQS3	p.Asn296His	rs79006549	missense variant	-	NC_000003.12:g.111122207A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asn296Asp	rs79006549	missense variant	-	NC_000003.12:g.111122207A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asn296Ser	rs1431649270	missense variant	-	NC_000003.12:g.111122208A>G	TOPMed
NECTIN3	Q9NQS3	p.Asn296His	RCV000490767	missense variant	Congenital cataract	NC_000003.12:g.111122207A>C	ClinVar
NECTIN3	Q9NQS3	p.Pro298Leu	rs747837674	missense variant	-	NC_000003.12:g.111122214C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys301Arg	rs541459080	missense variant	-	NC_000003.12:g.111122223A>G	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser302Ala	COSM1484415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111122225T>G	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Trp304Ser	rs777480767	missense variant	-	NC_000003.12:g.111122232G>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser305Arg	rs746954303	missense variant	-	NC_000003.12:g.111122236C>G	ExAC
NECTIN3	Q9NQS3	p.Arg306Gly	COSM6162742	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111122237A>G	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Leu307Phe	rs1249485603	missense variant	-	NC_000003.12:g.111126187G>T	TOPMed
NECTIN3	Q9NQS3	p.Trp311Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.111126199G>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Asp313Val	rs377107814	missense variant	-	NC_000003.12:g.111126204A>T	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp313Gly	rs377107814	missense variant	-	NC_000003.12:g.111126204A>G	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ala317Pro	rs1019578505	missense variant	-	NC_000003.12:g.111126215G>C	TOPMed
NECTIN3	Q9NQS3	p.Ser318Leu	rs774461240	missense variant	-	NC_000003.12:g.111126219C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Asp319Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111126221G>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Asn320Ser	rs772246599	missense variant	-	NC_000003.12:g.111126225A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr321Ala	rs773483080	missense variant	-	NC_000003.12:g.111126227A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Thr321Ile	rs760903476	missense variant	-	NC_000003.12:g.111126228C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Val325Phe	rs1227367339	missense variant	-	NC_000003.12:g.111126239G>T	gnomAD
NECTIN3	Q9NQS3	p.His326Tyr	rs766800647	missense variant	-	NC_000003.12:g.111126242C>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asn331Tyr	rs1017898255	missense variant	-	NC_000003.12:g.111126257A>T	gnomAD
NECTIN3	Q9NQS3	p.Asn331Asp	rs1017898255	missense variant	-	NC_000003.12:g.111126257A>G	gnomAD
NECTIN3	Q9NQS3	p.Asn331Ser	rs200130886	missense variant	-	NC_000003.12:g.111126258A>G	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile337Ser	rs1407084284	missense variant	-	NC_000003.12:g.111126276T>G	TOPMed
NECTIN3	Q9NQS3	p.Thr341Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111126287A>G	NCI-TCGA
NECTIN3	Q9NQS3	p.Asn342Ser	rs1158571091	missense variant	-	NC_000003.12:g.111126291A>G	TOPMed
NECTIN3	Q9NQS3	p.Gly345Val	COSM1484417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111126300G>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Gln346Ter	COSM1308374	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111126302C>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Gln346Glu	rs1181715601	missense variant	-	NC_000003.12:g.111126302C>G	gnomAD
NECTIN3	Q9NQS3	p.Gln346Leu	rs1409734620	missense variant	-	NC_000003.12:g.111126303A>T	TOPMed
NECTIN3	Q9NQS3	p.Gln346His	rs763596100	missense variant	-	NC_000003.12:g.111126304A>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser348Gly	rs1476312898	missense variant	-	NC_000003.12:g.111126308A>G	gnomAD
NECTIN3	Q9NQS3	p.Ser348Asn	rs751247055	missense variant	-	NC_000003.12:g.111126309G>A	ExAC
NECTIN3	Q9NQS3	p.Asp349His	COSM6162740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111126311G>C	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Gln350His	rs370802857	missense variant	-	NC_000003.12:g.111126316A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Lys351Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111126317A>G	NCI-TCGA
NECTIN3	Q9NQS3	p.Val352Leu	rs556409171	missense variant	-	NC_000003.12:g.111126320G>C	1000Genomes,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Val352Gly	rs1236635369	missense variant	-	NC_000003.12:g.111126321T>G	TOPMed
NECTIN3	Q9NQS3	p.Ile353Val	rs778957089	missense variant	-	NC_000003.12:g.111126323A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ile355Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111126330T>C	NCI-TCGA
NECTIN3	Q9NQS3	p.Asp357Ala	rs750282632	missense variant	-	NC_000003.12:g.111133635A>C	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp357Asn	rs1408623828	missense variant	-	NC_000003.12:g.111126335G>A	gnomAD
NECTIN3	Q9NQS3	p.Pro358His	COSM3585185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133638C>A	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Pro358Leu	rs755904297	missense variant	-	NC_000003.12:g.111133638C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Pro359His	rs779905970	missense variant	-	NC_000003.12:g.111133641C>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Thr360Ala	rs371971217	missense variant	-	NC_000003.12:g.111133643A>G	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr360Ser	rs371971217	missense variant	-	NC_000003.12:g.111133643A>T	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr360Pro	rs371971217	missense variant	-	NC_000003.12:g.111133643A>C	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr363Ile	rs747187494	missense variant	-	NC_000003.12:g.111133653C>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu364Phe	rs771253670	missense variant	-	NC_000003.12:g.111133655C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Pro366Leu	rs1228343828	missense variant	-	NC_000003.12:g.111133662C>T	gnomAD
NECTIN3	Q9NQS3	p.Thr367Ala	rs375240781	missense variant	-	NC_000003.12:g.111133664A>G	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile368Val	rs746177905	missense variant	-	NC_000003.12:g.111133667A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Gln369His	rs369025184	missense variant	-	NC_000003.12:g.111133672G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr374Ala	rs768027828	missense variant	-	NC_000003.12:g.111133685A>G	ExAC
NECTIN3	Q9NQS3	p.Asp376Glu	rs372940527	missense variant	-	NC_000003.12:g.111133693C>G	ESP,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Glu378Lys	rs1205844764	missense variant	-	NC_000003.12:g.111133697G>A	TOPMed
NECTIN3	Q9NQS3	p.Asp379Val	rs1442292352	missense variant	-	NC_000003.12:g.111133701A>T	TOPMed
NECTIN3	Q9NQS3	p.Leu380Pro	rs761364043	missense variant	-	NC_000003.12:g.111133704T>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Glu383Ter	COSM1036204	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133712G>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Glu383Lys	rs375320584	missense variant	-	NC_000003.12:g.111133712G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro384Thr	rs1396356110	missense variant	-	NC_000003.12:g.111133715C>A	gnomAD
NECTIN3	Q9NQS3	p.Lys385Thr	COSM3426876	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133719A>C	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Lys386AsnPheSerTerUnkUnk	COSM4747755	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133718A>-	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Lys386Thr	rs750085968	missense variant	-	NC_000003.12:g.111133722A>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys386Ile	rs750085968	missense variant	-	NC_000003.12:g.111133722A>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Leu387IlePheSerTerUnkUnk	COSM263186	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133717_111133718insA	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Pro388Ser	rs1383593832	missense variant	-	NC_000003.12:g.111133727C>T	gnomAD
NECTIN3	Q9NQS3	p.Pro388Leu	rs369345930	missense variant	-	NC_000003.12:g.111133728C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu394Trp	rs757299486	missense variant	-	NC_000003.12:g.111133746T>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ala395Thr	rs781515870	missense variant	-	NC_000003.12:g.111133748G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Thr396Ile	rs1352477370	missense variant	-	NC_000003.12:g.111133752C>T	TOPMed
NECTIN3	Q9NQS3	p.Thr396Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111133751A>G	NCI-TCGA
NECTIN3	Q9NQS3	p.Asp399Tyr	rs746124956	missense variant	-	NC_000003.12:g.111133760G>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp400Gly	rs1464326920	missense variant	-	NC_000003.12:g.111133764A>G	gnomAD
NECTIN3	Q9NQS3	p.Ile402Val	rs373638334	missense variant	-	NC_000003.12:g.111133769A>G	ESP,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ala403Thr	rs1358454724	missense variant	-	NC_000003.12:g.111133772G>A	TOPMed
NECTIN3	Q9NQS3	p.Thr404Met	rs139502141	missense variant	-	NC_000003.12:g.111133776C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile406Thr	rs1004158566	missense variant	-	NC_000003.12:g.111133782T>C	TOPMed
NECTIN3	Q9NQS3	p.Ala407Val	rs769271969	missense variant	-	NC_000003.12:g.111133785C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser408Asn	rs1406508453	missense variant	-	NC_000003.12:g.111133788G>A	TOPMed
NECTIN3	Q9NQS3	p.Val409Glu	rs537220727	missense variant	-	NC_000003.12:g.111133791T>A	gnomAD
NECTIN3	Q9NQS3	p.Val409Ile	rs150017735	missense variant	-	NC_000003.12:g.111133790G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val409Ala	rs537220727	missense variant	-	NC_000003.12:g.111133791T>C	gnomAD
NECTIN3	Q9NQS3	p.Val410Met	rs771589908	missense variant	-	NC_000003.12:g.111133793G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gly411Val	COSM727303	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133797G>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Gly411Ser	rs772823730	missense variant	-	NC_000003.12:g.111133796G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Leu414Phe	rs760373641	missense variant	-	NC_000003.12:g.111133805C>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu414Pro	rs995058504	missense variant	-	NC_000003.12:g.111133806T>C	TOPMed
NECTIN3	Q9NQS3	p.Leu414Val	rs760373641	missense variant	-	NC_000003.12:g.111133805C>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile416Val	rs1472777064	missense variant	-	NC_000003.12:g.111133811A>G	TOPMed
NECTIN3	Q9NQS3	p.Ile416Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111133812T>C	NCI-TCGA
NECTIN3	Q9NQS3	p.Val419Leu	rs1300645407	missense variant	-	NC_000003.12:g.111133820G>T	gnomAD
NECTIN3	Q9NQS3	p.Ser420Thr	rs1230459532	missense variant	-	NC_000003.12:g.111133824G>C	gnomAD
NECTIN3	Q9NQS3	p.Ser420Cys	rs1336466900	missense variant	-	NC_000003.12:g.111133823A>T	gnomAD
NECTIN3	Q9NQS3	p.Leu422Met	rs1286753860	missense variant	-	NC_000003.12:g.111133829T>A	gnomAD
NECTIN3	Q9NQS3	p.Gly424Val	rs1236276788	missense variant	-	NC_000003.12:g.111133836G>T	TOPMed
NECTIN3	Q9NQS3	p.Ile425Met	rs553444995	missense variant	-	NC_000003.12:g.111133840A>G	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Cys427Trp	rs759255246	missense variant	-	NC_000003.12:g.111133846C>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Tyr428His	rs145265722	missense variant	-	NC_000003.12:g.111133847T>C	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Tyr428Cys	rs752599607	missense variant	-	NC_000003.12:g.111133848A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg430Thr	rs1473327342	missense variant	-	NC_000003.12:g.111133854G>C	gnomAD
NECTIN3	Q9NQS3	p.Arg431Thr	COSM3585188	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133857G>C	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Arg431His	NCI-TCGA novel	insertion	-	NC_000003.12:g.111133859_111133860insACA	NCI-TCGA
NECTIN3	Q9NQS3	p.Arg431Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111133857G>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Arg432Pro	rs15611	missense variant	-	NC_000003.12:g.111133860G>C	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg432Trp	rs370275480	missense variant	-	NC_000003.12:g.111133859C>T	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg432Gln	rs15611	missense variant	-	NC_000003.12:g.111133860G>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg432Leu	rs15611	missense variant	-	NC_000003.12:g.111133860G>T	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr433Met	rs756460855	missense variant	-	NC_000003.12:g.111133863C>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Phe434Ser	rs1454496622	missense variant	-	NC_000003.12:g.111133866T>C	TOPMed
NECTIN3	Q9NQS3	p.Arg435His	rs749596338	missense variant	-	NC_000003.12:g.111133869G>A	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg435Cys	rs780559368	missense variant	-	NC_000003.12:g.111133868C>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Gly436Arg	rs149156497	missense variant	-	NC_000003.12:g.111133871G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp437Gly	rs374184162	missense variant	-	NC_000003.12:g.111133875A>G	ESP,ExAC,gnomAD
NECTIN3	Q9NQS3	p.Asp437Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111133874G>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Tyr438Cys	rs768505329	missense variant	-	NC_000003.12:g.111133878A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Phe439Cys	rs771551537	missense variant	-	NC_000003.12:g.111133881T>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ala440Val	rs1346559422	missense variant	-	NC_000003.12:g.111133884C>T	TOPMed
NECTIN3	Q9NQS3	p.Tyr443Cys	rs772772346	missense variant	-	NC_000003.12:g.111133893A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Pro445Leu	COSM3585189	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133899C>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Pro446Ser	rs1234157519	missense variant	-	NC_000003.12:g.111133901C>T	gnomAD
NECTIN3	Q9NQS3	p.Ser447Leu	rs1314585184	missense variant	-	NC_000003.12:g.111133905C>T	gnomAD
NECTIN3	Q9NQS3	p.Asp448Tyr	COSM1036207	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133907G>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Asp448Asn	rs1382414690	missense variant	-	NC_000003.12:g.111133907G>A	gnomAD
NECTIN3	Q9NQS3	p.Met449Thr	rs746663813	missense variant	-	NC_000003.12:g.111133911T>C	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Met449Lys	rs746663813	missense variant	-	NC_000003.12:g.111133911T>A	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Met449Val	rs1319745687	missense variant	-	NC_000003.12:g.111133910A>G	gnomAD
NECTIN3	Q9NQS3	p.Lys451Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111133916A>G	NCI-TCGA
NECTIN3	Q9NQS3	p.Glu452Ter	COSM1036208	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133919G>T	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Glu452Asp	rs770506988	missense variant	-	NC_000003.12:g.111133921A>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser453Ala	rs1484004485	missense variant	-	NC_000003.12:g.111133922T>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ile455Val	rs1202325810	missense variant	-	NC_000003.12:g.111133928A>G	gnomAD
NECTIN3	Q9NQS3	p.Ile455Thr	rs776163447	missense variant	-	NC_000003.12:g.111133929T>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Asp456Gly	rs759328302	missense variant	-	NC_000003.12:g.111133932A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val457Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111133934G>T	NCI-TCGA
NECTIN3	Q9NQS3	p.Glu462Lys	COSM445289	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133949G>A	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Asp468Gly	rs150500468	missense variant	-	NC_000003.12:g.111133968A>G	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ser469Asn	rs767691342	missense variant	-	NC_000003.12:g.111133971G>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Ser469Gly	rs956836881	missense variant	-	NC_000003.12:g.111133970A>G	TOPMed
NECTIN3	Q9NQS3	p.Lys472Gln	rs750595805	missense variant	-	NC_000003.12:g.111133979A>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys472Ile	rs756266550	missense variant	-	NC_000003.12:g.111133980A>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Glu473LysPheSerTerUnk	COSM5108180	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.111133975A>-	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Glu473Val	rs766561615	missense variant	-	NC_000003.12:g.111133983A>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Glu473Gly	rs766561615	missense variant	-	NC_000003.12:g.111133983A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Glu473ArgPheSerTerUnkUnk	rs760367541	frameshift	-	NC_000003.12:g.111133974_111133975insA	NCI-TCGA,NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Lys475Glu	rs1320053907	missense variant	-	NC_000003.12:g.111133988A>G	TOPMed
NECTIN3	Q9NQS3	p.Lys475Arg	rs1304881909	missense variant	-	NC_000003.12:g.111133989A>G	gnomAD
NECTIN3	Q9NQS3	p.Pro477Ala	COSM460956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.111133994C>G	NCI-TCGA Cosmic
NECTIN3	Q9NQS3	p.Pro477Leu	rs1376686698	missense variant	-	NC_000003.12:g.111133995C>T	gnomAD
NECTIN3	Q9NQS3	p.Asn479Lys	rs1292103675	missense variant	-	NC_000003.12:g.111134002C>A	TOPMed
NECTIN3	Q9NQS3	p.Asn480Asp	rs1395183407	missense variant	-	NC_000003.12:g.111134003A>G	gnomAD
NECTIN3	Q9NQS3	p.Asn480Ser	rs139467007	missense variant	-	NC_000003.12:g.111134004A>G	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu481Val	rs755325649	missense variant	-	NC_000003.12:g.111134006C>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg483Cys	rs779197526	missense variant	-	NC_000003.12:g.111134012C>T	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg483His	rs748644743	missense variant	-	NC_000003.12:g.111134013G>A	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Arg483Ser	rs779197526	missense variant	-	NC_000003.12:g.111134012C>A	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Lys484Arg	rs563784018	missense variant	-	NC_000003.12:g.111134016A>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp485Gly	rs1235325670	missense variant	-	NC_000003.12:g.111134019A>G	gnomAD
NECTIN3	Q9NQS3	p.Tyr486His	rs1467621832	missense variant	-	NC_000003.12:g.111134021T>C	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu487Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111134024T>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Leu487Val	rs1482725492	missense variant	-	NC_000003.12:g.111134024T>G	gnomAD
NECTIN3	Q9NQS3	p.Glu491Gly	rs746465763	missense variant	-	NC_000003.12:g.111134037A>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys492Glu	rs202203829	missense variant	-	NC_000003.12:g.111134039A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Thr493Ile	rs1448005241	missense variant	-	NC_000003.12:g.111134043C>T	gnomAD
NECTIN3	Q9NQS3	p.Gln494His	rs780858409	missense variant	-	NC_000003.12:g.111134047G>C	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Trp495Cys	rs1178344057	missense variant	-	NC_000003.12:g.111134050G>T	gnomAD
NECTIN3	Q9NQS3	p.Asn497Ser	rs745548812	missense variant	-	NC_000003.12:g.111134055A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val498Leu	rs376458207	missense variant	-	NC_000003.12:g.111134057G>C	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val498Ile	rs376458207	missense variant	-	NC_000003.12:g.111134057G>A	ESP,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu501Val	rs1289203158	missense variant	-	NC_000003.12:g.111134066C>G	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Leu501Ile	rs1289203158	missense variant	-	NC_000003.12:g.111134066C>A	TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asn502Tyr	rs1218222582	missense variant	-	NC_000003.12:g.111134069A>T	gnomAD
NECTIN3	Q9NQS3	p.Pro507Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.111134084C>A	NCI-TCGA
NECTIN3	Q9NQS3	p.Met508Val	rs760297187	missense variant	-	NC_000003.12:g.111134087A>G	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp509Gly	rs1220386255	missense variant	-	NC_000003.12:g.111134091A>G	gnomAD
NECTIN3	Q9NQS3	p.Asp509Asn	rs1371657385	missense variant	-	NC_000003.12:g.111134090G>A	gnomAD
NECTIN3	Q9NQS3	p.Tyr511Phe	rs768645942	missense variant	-	NC_000003.12:g.111134097A>T	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Glu512Ala	rs760785541	missense variant	-	NC_000003.12:g.111134100A>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Lys515Asn	rs957455374	missense variant	-	NC_000003.12:g.111134110A>T	gnomAD
NECTIN3	Q9NQS3	p.Met516Lys	rs199505993	missense variant	-	NC_000003.12:g.111134112T>A	1000Genomes,ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Gly517Glu	rs1478647105	missense variant	-	NC_000003.12:g.111134115G>A	gnomAD
NECTIN3	Q9NQS3	p.Met518Val	rs1192956751	missense variant	-	NC_000003.12:g.111134117A>G	gnomAD
NECTIN3	Q9NQS3	p.Val521Ala	rs765634009	missense variant	-	NC_000003.12:g.111134127T>C	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Val521Ile	rs759738896	missense variant	-	NC_000003.12:g.111134126G>A	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Val521Leu	rs759738896	missense variant	-	NC_000003.12:g.111134126G>C	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Ser522Gly	rs1390543411	missense variant	-	NC_000003.12:g.111134129A>G	gnomAD
NECTIN3	Q9NQS3	p.Asp523Gly	rs1225138577	missense variant	-	NC_000003.12:g.111134133A>G	TOPMed
NECTIN3	Q9NQS3	p.Tyr526Asn	rs752995369	missense variant	-	NC_000003.12:g.111134141T>A	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Glu530Lys	rs778205129	missense variant	-	NC_000003.12:g.111134153G>A	ExAC,TOPMed,gnomAD
NECTIN3	Q9NQS3	p.Asp531Gly	rs1017790274	missense variant	-	NC_000003.12:g.111134157A>G	gnomAD
NECTIN3	Q9NQS3	p.His536Tyr	rs1289896337	missense variant	-	NC_000003.12:g.111134171C>T	gnomAD
NECTIN3	Q9NQS3	p.Val541Ile	rs1267932734	missense variant	-	NC_000003.12:g.111134186G>A	gnomAD
NECTIN3	Q9NQS3	p.Ser543Ala	rs745518995	missense variant	-	NC_000003.12:g.111134192T>G	ExAC,gnomAD
NECTIN3	Q9NQS3	p.Trp547Cys	rs1477771672	missense variant	-	NC_000003.12:g.111134206G>T	gnomAD
NECTIN3	Q9NQS3	p.Val549Ile	rs143220633	missense variant	-	NC_000003.12:g.111134210G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly2Glu	rs1279065589	missense variant	-	NC_000020.11:g.34876650G>A	TOPMed
ACSS2	Q9NR19	p.Leu3Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34876652C>T	NCI-TCGA
ACSS2	Q9NR19	p.Glu5Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34876659A>T	NCI-TCGA
ACSS2	Q9NR19	p.Arg7Gln	rs758995393	missense variant	-	NC_000020.11:g.34876665G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Arg7Trp	rs748766067	missense variant	-	NC_000020.11:g.34876664C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg9Gln	rs1365991599	missense variant	-	NC_000020.11:g.34876671G>A	gnomAD
ACSS2	Q9NR19	p.Ser10Arg	rs1388854975	missense variant	-	NC_000020.11:g.34876675C>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly11Asp	rs1376745535	missense variant	-	NC_000020.11:g.34876677G>A	gnomAD
ACSS2	Q9NR19	p.Gly11Cys	rs1302623716	missense variant	-	NC_000020.11:g.34876676G>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly11Ser	rs1302623716	missense variant	-	NC_000020.11:g.34876676G>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly13Trp	rs1238070469	missense variant	-	NC_000020.11:g.34876682G>T	gnomAD
ACSS2	Q9NR19	p.Gly13Arg	rs1238070469	missense variant	-	NC_000020.11:g.34876682G>C	gnomAD
ACSS2	Q9NR19	p.Gly13Glu	rs1157198999	missense variant	-	NC_000020.11:g.34876683G>A	gnomAD
ACSS2	Q9NR19	p.Arg15Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34876689G>T	NCI-TCGA
ACSS2	Q9NR19	p.Arg15Trp	rs1349205816	missense variant	-	NC_000020.11:g.34876688C>T	TOPMed
ACSS2	Q9NR19	p.Gly16Asp	rs1411440695	missense variant	-	NC_000020.11:g.34876692G>A	TOPMed
ACSS2	Q9NR19	p.Gly16Ser	rs1002793627	missense variant	-	NC_000020.11:g.34876691G>A	TOPMed
ACSS2	Q9NR19	p.Gln17Arg	rs974483217	missense variant	-	NC_000020.11:g.34876695A>G	TOPMed
ACSS2	Q9NR19	p.Glu19Lys	rs1343172168	missense variant	-	NC_000020.11:g.34876700G>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala20Val	rs1221191748	missense variant	-	NC_000020.11:g.34876704C>T	gnomAD
ACSS2	Q9NR19	p.Ala20Thr	rs921573601	missense variant	-	NC_000020.11:g.34876703G>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly21Arg	rs1032387407	missense variant	-	NC_000020.11:g.34876706G>A	gnomAD
ACSS2	Q9NR19	p.Gly21Glu	rs1418889032	missense variant	-	NC_000020.11:g.34876707G>A	gnomAD
ACSS2	Q9NR19	p.Ala22Thr	rs1303664140	missense variant	-	NC_000020.11:g.34876709G>A	gnomAD
ACSS2	Q9NR19	p.Ala26Val	rs1192672353	missense variant	-	NC_000020.11:g.34876722C>T	gnomAD
ACSS2	Q9NR19	p.Arg27Trp	rs1438946661	missense variant	-	NC_000020.11:g.34876724C>T	gnomAD
ACSS2	Q9NR19	p.Arg27Pro	rs747486877	missense variant	-	NC_000020.11:g.34876725G>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ser28Gly	rs1400761294	missense variant	-	NC_000020.11:g.34876727A>G	gnomAD
ACSS2	Q9NR19	p.Trp29Cys	rs776841902	missense variant	-	NC_000020.11:g.34876732G>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Trp29Leu	rs771388973	missense variant	-	NC_000020.11:g.34876731G>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Trp29Ser	rs771388973	missense variant	-	NC_000020.11:g.34876731G>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ser30Pro	rs1198200704	missense variant	-	NC_000020.11:g.34876733T>C	TOPMed
ACSS2	Q9NR19	p.Ser30Cys	rs1294423790	missense variant	-	NC_000020.11:g.34876734C>G	gnomAD
ACSS2	Q9NR19	p.Pro32Leu	rs746111837	missense variant	-	NC_000020.11:g.34876740C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu34Gly	rs940632186	missense variant	-	NC_000020.11:g.34876746A>G	TOPMed
ACSS2	Q9NR19	p.Arg37Gly	rs965269016	missense variant	-	NC_000020.11:g.34876754C>G	gnomAD
ACSS2	Q9NR19	p.Ser38Pro	rs775580200	missense variant	-	NC_000020.11:g.34876757T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.His40Asp	rs1227783416	missense variant	-	NC_000020.11:g.34876763C>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.His40Gln	rs921087686	missense variant	-	NC_000020.11:g.34876765C>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Pro42Thr	rs146486104	missense variant	-	NC_000020.11:g.34876769C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gln45Arg	rs984380604	missense variant	-	NC_000020.11:g.34876779A>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg48Gly	rs909607996	missense variant	-	NC_000020.11:g.34876787C>G	gnomAD
ACSS2	Q9NR19	p.Glu49Lys	rs1413396382	missense variant	-	NC_000020.11:g.34876790G>A	TOPMed
ACSS2	Q9NR19	p.Leu50Gln	rs1196725581	missense variant	-	NC_000020.11:g.34876794T>A	gnomAD
ACSS2	Q9NR19	p.His51Pro	rs1422463906	missense variant	-	NC_000020.11:g.34876797A>C	TOPMed
ACSS2	Q9NR19	p.Arg52Pro	rs764139474	missense variant	-	NC_000020.11:g.34876800G>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg53Cys	rs1223747729	missense variant	-	NC_000020.11:g.34876802C>T	gnomAD
ACSS2	Q9NR19	p.Arg53His	rs1470224956	missense variant	-	NC_000020.11:g.34876803G>A	gnomAD
ACSS2	Q9NR19	p.Ser54Phe	rs1442118622	missense variant	-	NC_000020.11:g.34876806C>T	TOPMed
ACSS2	Q9NR19	p.Val55Leu	rs895525657	missense variant	-	NC_000020.11:g.34876808G>C	TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu57Asp	rs1178386329	missense variant	-	NC_000020.11:g.34876816G>C	TOPMed
ACSS2	Q9NR19	p.Arg59Gln	rs1456746771	missense variant	-	NC_000020.11:g.34876821G>A	TOPMed
ACSS2	Q9NR19	p.Phe61Leu	rs1483937871	missense variant	-	NC_000020.11:g.34882798C>A	gnomAD
ACSS2	Q9NR19	p.Ile65Val	rs1188279477	missense variant	-	NC_000020.11:g.34882808A>G	gnomAD
ACSS2	Q9NR19	p.Lys67Thr	rs757644302	missense variant	-	NC_000020.11:g.34882815A>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu68AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.34882818A>-	NCI-TCGA
ACSS2	Q9NR19	p.Glu68Ala	rs1441715187	missense variant	-	NC_000020.11:g.34882818A>C	TOPMed
ACSS2	Q9NR19	p.Glu68Gln	rs781621444	missense variant	-	NC_000020.11:g.34882817G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Phe69Cys	rs746176589	missense variant	-	NC_000020.11:g.34882821T>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Phe69Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34882820T>A	NCI-TCGA
ACSS2	Q9NR19	p.Trp71Ter	rs1420867059	stop gained	-	NC_000020.11:g.34882828G>A	gnomAD
ACSS2	Q9NR19	p.Lys72Asn	rs1354566383	missense variant	-	NC_000020.11:g.34882831G>C	TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr73Ala	rs1338712729	missense variant	-	NC_000020.11:g.34882832A>G	TOPMed
ACSS2	Q9NR19	p.Pro76Ser	rs1453477111	missense variant	-	NC_000020.11:g.34882841C>T	TOPMed
ACSS2	Q9NR19	p.Gly77Val	rs1443809525	missense variant	-	NC_000020.11:g.34882845G>T	gnomAD
ACSS2	Q9NR19	p.Pro78Ala	rs1405208734	missense variant	-	NC_000020.11:g.34882847C>G	TOPMed
ACSS2	Q9NR19	p.Arg81Trp	rs60379405	missense variant	-	NC_000020.11:g.34882856C>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg81Gln	rs57031852	missense variant	-	NC_000020.11:g.34882857G>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg81Pro	rs57031852	missense variant	-	NC_000020.11:g.34882857G>C	TOPMed,gnomAD
ACSS2	Q9NR19	p.Tyr82ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.34882857G>-	NCI-TCGA
ACSS2	Q9NR19	p.Tyr82Phe	rs768784749	missense variant	-	NC_000020.11:g.34882860A>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Tyr82Cys	rs768784749	missense variant	-	NC_000020.11:g.34882860A>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Asn83Thr	COSM1026125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34882863A>C	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Val86Glu	rs1468271250	missense variant	-	NC_000020.11:g.34882872T>A	TOPMed
ACSS2	Q9NR19	p.Val86Met	rs768795451	missense variant	-	NC_000020.11:g.34882871G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Lys88Glu	rs761827348	missense variant	-	NC_000020.11:g.34882877A>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ile91Thr	rs771840227	missense variant	-	NC_000020.11:g.34882887T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Ile93Thr	rs139489319	missense variant	-	NC_000020.11:g.34882893T>C	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu94Lys	rs1243022183	missense variant	-	NC_000020.11:g.34882895G>A	TOPMed
ACSS2	Q9NR19	p.Met96Ile	rs766242037	missense variant	-	NC_000020.11:g.34882903G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Gly98Ala	rs1210933452	missense variant	-	NC_000020.11:g.34882908G>C	gnomAD
ACSS2	Q9NR19	p.Val107Leu	rs57226725	missense variant	-	NC_000020.11:g.34882934G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg110Gly	rs976434947	missense variant	-	NC_000020.11:g.34882943C>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg110Gln	rs757812388	missense variant	-	NC_000020.11:g.34882944G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg110Ter	rs976434947	stop gained	-	NC_000020.11:g.34882943C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Val112Ile	rs1319211666	missense variant	-	NC_000020.11:g.34882949G>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.His113Arg	rs370742820	missense variant	-	NC_000020.11:g.34882953A>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.His113Tyr	rs781504991	missense variant	-	NC_000020.11:g.34882952C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu114Gln	rs1369586635	missense variant	-	NC_000020.11:g.34882955G>C	gnomAD
ACSS2	Q9NR19	p.Glu114Asp	rs1398746062	missense variant	-	NC_000020.11:g.34882957G>C	TOPMed
ACSS2	Q9NR19	p.Lys116Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34882963G>T	NCI-TCGA
ACSS2	Q9NR19	p.Lys116Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34882962A>T	NCI-TCGA
ACSS2	Q9NR19	p.Asp119Tyr	rs140291665	missense variant	-	NC_000020.11:g.34882970G>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val121Ala	rs780393103	missense variant	-	NC_000020.11:g.34882977T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Ala122Thr	rs144026390	missense variant	-	NC_000020.11:g.34882979G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Tyr124His	rs768811930	missense variant	-	NC_000020.11:g.34882985T>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Trp125Arg	rs1185661730	missense variant	-	NC_000020.11:g.34882988T>C	TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu126Gly	rs1464122167	missense variant	-	NC_000020.11:g.34913098A>G	gnomAD
ACSS2	Q9NR19	p.Gly127Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34913101G>C	NCI-TCGA
ACSS2	Q9NR19	p.Gly127Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34913100G>A	NCI-TCGA
ACSS2	Q9NR19	p.Asn128Lys	rs758470721	missense variant	-	NC_000020.11:g.34913105T>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Asn128Ser	rs149416954	missense variant	-	NC_000020.11:g.34913104A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Pro130Ser	rs777891247	missense variant	-	NC_000020.11:g.34913109C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Gly131Glu	rs746957154	missense variant	-	NC_000020.11:g.34913113G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly131Arg	rs1352542401	missense variant	-	NC_000020.11:g.34913112G>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu132ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.34913112G>-	NCI-TCGA
ACSS2	Q9NR19	p.Glu132Lys	rs1383096487	missense variant	-	NC_000020.11:g.34913115G>A	gnomAD
ACSS2	Q9NR19	p.Thr133Ala	rs112876003	missense variant	-	NC_000020.11:g.34913118A>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Gln135Glu	COSM1134551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913124C>G	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Gln135Ter	COSM3545582	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.34913124C>T	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Ile136Phe	rs374812849	missense variant	-	NC_000020.11:g.34913127A>T	ESP,ExAC,gnomAD
ACSS2	Q9NR19	p.Ile136Val	rs374812849	missense variant	-	NC_000020.11:g.34913127A>G	ESP,ExAC,gnomAD
ACSS2	Q9NR19	p.Leu141Phe	rs776598687	missense variant	-	NC_000020.11:g.34913142C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Val143Ile	rs1281210208	missense variant	-	NC_000020.11:g.34913148G>A	gnomAD
ACSS2	Q9NR19	p.Val143Gly	rs1416244213	missense variant	-	NC_000020.11:g.34913149T>G	TOPMed
ACSS2	Q9NR19	p.Val143Phe	COSM1136783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913148G>T	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Gln144His	rs1355492547	missense variant	-	NC_000020.11:g.34913153A>C	TOPMed
ACSS2	Q9NR19	p.Cys146Tyr	rs183847650	missense variant	-	NC_000020.11:g.34913158G>A	1000Genomes
ACSS2	Q9NR19	p.Gln147Arg	rs369200323	missense variant	-	NC_000020.11:g.34913161A>G	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gln147Ter	rs1262677546	stop gained	-	NC_000020.11:g.34913160C>T	gnomAD
ACSS2	Q9NR19	p.Gln147Leu	rs369200323	missense variant	-	NC_000020.11:g.34913161A>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Phe148Leu	rs1205450854	missense variant	-	NC_000020.11:g.34913165C>A	gnomAD
ACSS2	Q9NR19	p.Ser149Gly	rs1266608902	missense variant	-	NC_000020.11:g.34913166A>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Asn150Ser	rs562270723	missense variant	-	NC_000020.11:g.34913170A>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Leu152Ile	COSM1411338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913175C>A	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Arg153Ter	rs530201978	stop gained	-	NC_000020.11:g.34913178C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg153Gln	rs763781277	missense variant	-	NC_000020.11:g.34913179G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Lys154Arg	rs761178819	missense variant	-	NC_000020.11:g.34913182A>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly156Asp	rs1427036847	missense variant	-	NC_000020.11:g.34913393G>A	gnomAD
ACSS2	Q9NR19	p.Gly156Arg	rs766834295	missense variant	-	NC_000020.11:g.34913187G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Ile157Thr	rs761266966	missense variant	-	NC_000020.11:g.34913396T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Ile157Val	COSM1136784	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913395A>G	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Lys159Thr	rs766981173	missense variant	-	NC_000020.11:g.34913402A>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Lys159Asn	rs57262888	missense variant	-	NC_000020.11:g.34913403G>C	1000Genomes,ExAC,gnomAD
ACSS2	Q9NR19	p.Gly160Arg	rs760019903	missense variant	-	NC_000020.11:g.34913404G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Asp161Asn	rs765529559	missense variant	-	NC_000020.11:g.34913407G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg162Gln	rs370686336	missense variant	-	NC_000020.11:g.34913411G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg162Ter	rs753037922	stop gained	-	NC_000020.11:g.34913410C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ile165Val	rs764326377	missense variant	-	NC_000020.11:g.34913419A>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Met167Ile	rs377726493	missense variant	-	NC_000020.11:g.34913427G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Pro168Ser	rs1242168960	missense variant	-	NC_000020.11:g.34913428C>T	TOPMed
ACSS2	Q9NR19	p.Met169Val	rs757455210	missense variant	-	NC_000020.11:g.34913431A>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu172Asp	rs939230074	missense variant	-	NC_000020.11:g.34913442G>C	TOPMed,gnomAD
ACSS2	Q9NR19	p.Leu173Val	rs781417915	missense variant	-	NC_000020.11:g.34913443C>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Leu173HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.34913442_34913460GCTTGTGGTGGCCATGCTG>-	NCI-TCGA
ACSS2	Q9NR19	p.Leu173Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34913443C>A	NCI-TCGA
ACSS2	Q9NR19	p.Leu173Phe	rs781417915	missense variant	-	NC_000020.11:g.34913443C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala179Thr	rs1202349667	missense variant	-	NC_000020.11:g.34913461G>A	gnomAD
ACSS2	Q9NR19	p.Ala179Ser	COSM3840825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34913461G>T	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Cys180Tyr	rs750444426	missense variant	-	NC_000020.11:g.34913465G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Cys180Ser	rs750444426	missense variant	-	NC_000020.11:g.34913465G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Ala181Val	rs112012777	missense variant	-	NC_000020.11:g.34913468C>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg182Leu	rs946609628	missense variant	-	NC_000020.11:g.34913471G>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg182Cys	rs956006658	missense variant	-	NC_000020.11:g.34913470C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg182His	rs946609628	missense variant	-	NC_000020.11:g.34913471G>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Ile183Thr	rs575752611	missense variant	-	NC_000020.11:g.34913474T>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala185Ser	rs749073668	missense variant	-	NC_000020.11:g.34913479G>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.His187Asn	rs1423542078	missense variant	-	NC_000020.11:g.34913485C>A	gnomAD
ACSS2	Q9NR19	p.Ile189Thr	rs768218171	missense variant	-	NC_000020.11:g.34913492T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Phe191Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34913755T>G	NCI-TCGA
ACSS2	Q9NR19	p.Phe191Leu	rs774798428	missense variant	-	NC_000020.11:g.34913755T>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Ala192Ser	rs1218133018	missense variant	-	NC_000020.11:g.34913756G>T	gnomAD
ACSS2	Q9NR19	p.Ser195Phe	rs371982555	missense variant	-	NC_000020.11:g.34913766C>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ser195Tyr	rs371982555	missense variant	-	NC_000020.11:g.34913766C>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu197Ter	rs1188090775	stop gained	-	NC_000020.11:g.34913771G>T	TOPMed
ACSS2	Q9NR19	p.Cys200Arg	rs143832046	missense variant	-	NC_000020.11:g.34913780T>C	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg202Trp	rs766341618	missense variant	-	NC_000020.11:g.34913786C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Arg202Gln	rs753868628	missense variant	-	NC_000020.11:g.34913787G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ile203Thr	rs1199256301	missense variant	-	NC_000020.11:g.34913790T>C	TOPMed
ACSS2	Q9NR19	p.Asp205Glu	rs1243216473	missense variant	-	NC_000020.11:g.34913797T>G	gnomAD
ACSS2	Q9NR19	p.Leu211Phe	rs1192307164	missense variant	-	NC_000020.11:g.34913813C>T	gnomAD
ACSS2	Q9NR19	p.Leu211Val	rs1192307164	missense variant	-	NC_000020.11:g.34913813C>G	gnomAD
ACSS2	Q9NR19	p.Ile212Val	rs765017042	missense variant	-	NC_000020.11:g.34913816A>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ile212Met	rs752445483	missense variant	-	NC_000020.11:g.34913818C>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Thr213Ile	rs758068442	missense variant	-	NC_000020.11:g.34913820C>T	ExAC
ACSS2	Q9NR19	p.Thr214Arg	rs1158301843	missense variant	-	NC_000020.11:g.34913823C>G	gnomAD
ACSS2	Q9NR19	p.Phe217Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34914103C>A	NCI-TCGA
ACSS2	Q9NR19	p.Tyr218Cys	rs1408505525	missense variant	-	NC_000020.11:g.34914105A>G	gnomAD
ACSS2	Q9NR19	p.Tyr218His	rs1159351175	missense variant	-	NC_000020.11:g.34914104T>C	TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu221Asp	rs751285866	missense variant	-	NC_000020.11:g.34914115A>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu221GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.34914107_34914108insG	NCI-TCGA
ACSS2	Q9NR19	p.Glu221Lys	rs758227933	missense variant	-	NC_000020.11:g.34914113G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu221Gly	rs763870941	missense variant	-	NC_000020.11:g.34914114A>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val224Met	rs1333475263	missense variant	-	NC_000020.11:g.34914122G>A	gnomAD
ACSS2	Q9NR19	p.Val224Glu	rs1444004108	missense variant	-	NC_000020.11:g.34914123T>A	gnomAD
ACSS2	Q9NR19	p.Lys227Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34914133G>T	NCI-TCGA
ACSS2	Q9NR19	p.Glu228Gln	rs756804664	missense variant	-	NC_000020.11:g.34914134G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu228Val	rs1334643686	missense variant	-	NC_000020.11:g.34914135A>T	gnomAD
ACSS2	Q9NR19	p.Ala230Pro	rs745330850	missense variant	-	NC_000020.11:g.34914140G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Asp231His	rs148166087	missense variant	-	NC_000020.11:g.34914143G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu232Lys	rs748637375	missense variant	-	NC_000020.11:g.34914146G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu232Asp	rs772634638	missense variant	-	NC_000020.11:g.34914148G>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala233Asp	rs1182850525	missense variant	-	NC_000020.11:g.34914150C>A	gnomAD
ACSS2	Q9NR19	p.Gln235Pro	rs568860603	missense variant	-	NC_000020.11:g.34914156A>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Gln235Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.34914155C>T	NCI-TCGA
ACSS2	Q9NR19	p.Gln235Lys	rs140958101	missense variant	-	NC_000020.11:g.34914155C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Cys237Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34914163T>G	NCI-TCGA
ACSS2	Q9NR19	p.Cys237Tyr	rs1419950372	missense variant	-	NC_000020.11:g.34914162G>A	gnomAD
ACSS2	Q9NR19	p.Gln238Ter	rs771014417	stop gained	-	NC_000020.11:g.34914164C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly241Ser	rs747283889	missense variant	-	NC_000020.11:g.34914324G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly241Val	rs962936073	missense variant	-	NC_000020.11:g.34914325G>T	TOPMed
ACSS2	Q9NR19	p.Pro243Leu	rs1167920499	missense variant	-	NC_000020.11:g.34914331C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg245Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34914338A>C	NCI-TCGA
ACSS2	Q9NR19	p.Cys246Arg	rs1365243073	missense variant	-	NC_000020.11:g.34914339T>C	TOPMed
ACSS2	Q9NR19	p.Ile248Thr	rs1432542079	missense variant	-	NC_000020.11:g.34914346T>C	TOPMed,gnomAD
ACSS2	Q9NR19	p.Val250Ile	rs769918130	missense variant	-	NC_000020.11:g.34914351G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Lys251Arg	rs1294090201	missense variant	-	NC_000020.11:g.34914355A>G	gnomAD
ACSS2	Q9NR19	p.His252Tyr	rs146376566	missense variant	-	NC_000020.11:g.34914357C>T	ESP,TOPMed,gnomAD
ACSS2	Q9NR19	p.His252Gln	rs61014667	missense variant	-	NC_000020.11:g.34914359C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg255Gln	rs201041169	missense variant	-	NC_000020.11:g.34914367G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg255Trp	rs768438688	missense variant	-	NC_000020.11:g.34914366C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala256Thr	rs761566182	missense variant	-	NC_000020.11:g.34914369G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu257Gly	rs1012769449	missense variant	-	NC_000020.11:g.34914373A>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly259Cys	rs202132151	missense variant	-	NC_000020.11:g.34914378G>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly259Ser	rs202132151	missense variant	-	NC_000020.11:g.34914378G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Met260Arg	rs760393289	missense variant	-	NC_000020.11:g.34914382T>G	ExAC
ACSS2	Q9NR19	p.Gly261Val	rs765988627	missense variant	-	NC_000020.11:g.34914385G>T	ExAC
ACSS2	Q9NR19	p.Asp262Val	rs753356876	missense variant	-	NC_000020.11:g.34914388A>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Asp262Glu	rs778189150	missense variant	-	NC_000020.11:g.34914389C>A	ExAC
ACSS2	Q9NR19	p.Asp262Ala	rs753356876	missense variant	-	NC_000020.11:g.34914388A>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Asp262Glu	rs778189150	missense variant	-	NC_000020.11:g.34914389C>G	ExAC
ACSS2	Q9NR19	p.Ser263Pro	rs757629914	missense variant	-	NC_000020.11:g.34914390T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Ser263Phe	rs1408664569	missense variant	-	NC_000020.11:g.34914391C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr264Pro	rs200209765	missense variant	-	NC_000020.11:g.34914393A>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Thr264Ile	rs746101673	missense variant	-	NC_000020.11:g.34914394C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Ser267Cys	rs1052317790	missense variant	-	NC_000020.11:g.34914403C>G	TOPMed
ACSS2	Q9NR19	p.Ser267Pro	rs1300807970	missense variant	-	NC_000020.11:g.34914402T>C	gnomAD
ACSS2	Q9NR19	p.Pro268Leu	rs769938114	missense variant	-	NC_000020.11:g.34914406C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Pro269GlnPheSerTerUnkUnk	rs756048003	frameshift	-	NC_000020.11:g.34914403C>-	NCI-TCGA
ACSS2	Q9NR19	p.Pro269Thr	rs780140788	missense variant	-	NC_000020.11:g.34914408C>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Ile270AsnPheSerTerUnk	rs745681981	frameshift	-	NC_000020.11:g.34914402_34914403insC	NCI-TCGA,NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Ile270Val	rs1175161715	missense variant	-	NC_000020.11:g.34914411A>G	gnomAD
ACSS2	Q9NR19	p.Ser273Leu	rs1453512795	missense variant	-	NC_000020.11:g.34914421C>T	gnomAD
ACSS2	Q9NR19	p.Ser273Pro	rs749319988	missense variant	-	NC_000020.11:g.34914420T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Pro275Leu	rs761807252	missense variant	-	NC_000020.11:g.34914427C>T	ExAC
ACSS2	Q9NR19	p.Pro275Ser	rs774197909	missense variant	-	NC_000020.11:g.34914426C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Ile279Asn	rs770905099	missense variant	-	NC_000020.11:g.34919436T>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Trp281Arg	rs776510598	missense variant	-	NC_000020.11:g.34919441T>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Trp281Ter	rs374284589	stop gained	-	NC_000020.11:g.34919442G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly284Glu	rs1172539374	missense variant	-	NC_000020.11:g.34919451G>A	gnomAD
ACSS2	Q9NR19	p.Asp286Glu	rs1371242711	missense variant	-	NC_000020.11:g.34919458C>G	gnomAD
ACSS2	Q9NR19	p.Leu287Phe	rs377509627	missense variant	-	NC_000020.11:g.34919461G>C	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Trp288Ter	rs774885512	stop gained	-	NC_000020.11:g.34919463G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Trp288Gly	rs1311270218	missense variant	-	NC_000020.11:g.34919462T>G	gnomAD
ACSS2	Q9NR19	p.Trp289Gly	rs1399974860	missense variant	-	NC_000020.11:g.34919465T>G	TOPMed
ACSS2	Q9NR19	p.His290Tyr	rs762575072	missense variant	-	NC_000020.11:g.34919468C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.His290Pro	rs1338899071	missense variant	-	NC_000020.11:g.34919469A>C	TOPMed
ACSS2	Q9NR19	p.Leu292Phe	rs768124613	missense variant	-	NC_000020.11:g.34919474C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Met293Arg	rs1212727137	missense variant	-	NC_000020.11:g.34919478T>G	gnomAD
ACSS2	Q9NR19	p.Cys300Ser	rs61359113	missense variant	-	NC_000020.11:g.34919498T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu301Lys	rs111590432	missense variant	-	NC_000020.11:g.34919501G>A	1000Genomes,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu301Gly	rs1161715064	missense variant	-	NC_000020.11:g.34919502A>G	TOPMed
ACSS2	Q9NR19	p.Pro302Arg	rs1454168130	missense variant	-	NC_000020.11:g.34919505C>G	gnomAD
ACSS2	Q9NR19	p.Pro302Ser	rs202225735	missense variant	-	NC_000020.11:g.34919504C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu303Lys	rs766394936	missense variant	-	NC_000020.11:g.34919507G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu303Gln	rs766394936	missense variant	-	NC_000020.11:g.34919507G>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Cys305Trp	rs1476831770	missense variant	-	NC_000020.11:g.34919515T>G	TOPMed
ACSS2	Q9NR19	p.Cys305Arg	rs758614371	missense variant	-	NC_000020.11:g.34919513T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Ala307Val	rs1398837636	missense variant	-	NC_000020.11:g.34919520C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu308Lys	rs180979040	missense variant	-	NC_000020.11:g.34919522G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Asp309Asn	rs1390923351	missense variant	-	NC_000020.11:g.34919525G>A	gnomAD
ACSS2	Q9NR19	p.Pro310Leu	rs1172046978	missense variant	-	NC_000020.11:g.34919529C>T	gnomAD
ACSS2	Q9NR19	p.Pro310Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34919528C>A	NCI-TCGA
ACSS2	Q9NR19	p.Tyr315Phe	rs1197235782	missense variant	-	NC_000020.11:g.34919544A>T	TOPMed
ACSS2	Q9NR19	p.Tyr315Ter	rs1415962714	stop gained	-	NC_000020.11:g.34919545C>A	gnomAD
ACSS2	Q9NR19	p.Ser317Arg	rs745627480	missense variant	-	NC_000020.11:g.34919551T>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Thr320SerIleLysIle	NCI-TCGA novel	insertion	-	NC_000020.11:g.34919559_34919560insAAGCATAAAAAT	NCI-TCGA
ACSS2	Q9NR19	p.Pro323His	rs769454598	missense variant	-	NC_000020.11:g.34919568C>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Lys324Asn	rs779798790	missense variant	-	NC_000020.11:g.34919572G>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Gly325Cys	rs771447628	missense variant	-	NC_000020.11:g.34920539G>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Val326Ala	rs1284486404	missense variant	-	NC_000020.11:g.34920543T>C	gnomAD
ACSS2	Q9NR19	p.Val327Ile	rs777259588	missense variant	-	NC_000020.11:g.34920545G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Thr329Ile	rs1219941249	missense variant	-	NC_000020.11:g.34920552C>T	TOPMed
ACSS2	Q9NR19	p.Val330Ala	rs59126805	missense variant	-	NC_000020.11:g.34920555T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Tyr333Cys	rs149509417	missense variant	-	NC_000020.11:g.34920564A>G	ESP,TOPMed
ACSS2	Q9NR19	p.Met334Val	rs1392308716	missense variant	-	NC_000020.11:g.34920566A>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Met334Thr	rs1325088345	missense variant	-	NC_000020.11:g.34920567T>C	TOPMed
ACSS2	Q9NR19	p.Tyr336Cys	rs375929217	missense variant	-	NC_000020.11:g.34920573A>G	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Tyr336Phe	rs375929217	missense variant	-	NC_000020.11:g.34920573A>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val337Leu	rs200496887	missense variant	-	NC_000020.11:g.34920575G>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Thr339Ile	rs1333569365	missense variant	-	NC_000020.11:g.34920582C>T	gnomAD
ACSS2	Q9NR19	p.Thr340Ile	rs762024810	missense variant	-	NC_000020.11:g.34920585C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Lys342Asn	rs60867847	missense variant	-	NC_000020.11:g.34920592G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val344Met	rs1355195322	missense variant	-	NC_000020.11:g.34920596G>A	gnomAD
ACSS2	Q9NR19	p.Phe345Val	rs755950285	missense variant	-	NC_000020.11:g.34920599T>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Val352Met	rs1424206893	missense variant	-	NC_000020.11:g.34920620G>A	TOPMed
ACSS2	Q9NR19	p.Trp354Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34920627G>C	NCI-TCGA
ACSS2	Q9NR19	p.Trp354Cys	rs1357167868	missense variant	-	NC_000020.11:g.34920628G>T	gnomAD
ACSS2	Q9NR19	p.Cys355Ser	COSM4097825	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34920629T>A	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Cys355Tyr	COSM1026128	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34920630G>A	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Thr356Met	rs753593352	missense variant	-	NC_000020.11:g.34920633C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Asp358Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34920638G>T	NCI-TCGA
ACSS2	Q9NR19	p.Gly360Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34920645G>T	NCI-TCGA
ACSS2	Q9NR19	p.Thr363Ile	rs1250767480	missense variant	-	NC_000020.11:g.34920654C>T	TOPMed
ACSS2	Q9NR19	p.Val368Ile	rs201418139	missense variant	-	NC_000020.11:g.34920668G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr369Ile	rs1185754934	missense variant	-	NC_000020.11:g.34920672C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Tyr370His	rs376839994	missense variant	-	NC_000020.11:g.34920674T>C	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Tyr370Ter	rs770159592	stop gained	-	NC_000020.11:g.34920676T>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Tyr370Cys	rs181102979	missense variant	-	NC_000020.11:g.34920675A>G	1000Genomes,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly371Arg	rs1419452848	missense variant	-	NC_000020.11:g.34920677G>C	gnomAD
ACSS2	Q9NR19	p.Ala374Thr	rs1234422408	missense variant	-	NC_000020.11:g.34920686G>A	TOPMed
ACSS2	Q9NR19	p.Ala377Pro	rs749720668	missense variant	-	NC_000020.11:g.34920695G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Ala377Asp	rs1308225578	missense variant	-	NC_000020.11:g.34920696C>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala377Val	rs1308225578	missense variant	-	NC_000020.11:g.34920696C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr378Ile	rs1301569310	missense variant	-	NC_000020.11:g.34920699C>T	TOPMed
ACSS2	Q9NR19	p.Ser379Asn	rs371238578	missense variant	-	NC_000020.11:g.34920702G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val380Gly	rs761930139	missense variant	-	NC_000020.11:g.34920705T>G	ExAC
ACSS2	Q9NR19	p.Val380Ile	rs1160300983	missense variant	-	NC_000020.11:g.34920704G>A	gnomAD
ACSS2	Q9NR19	p.Leu381Ser	rs1341522239	missense variant	-	NC_000020.11:g.34920708T>C	gnomAD
ACSS2	Q9NR19	p.Phe382Leu	COSM4097827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34921008T>G	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Glu383Gly	rs1358612988	missense variant	-	NC_000020.11:g.34921010A>G	TOPMed
ACSS2	Q9NR19	p.Thr387Ile	rs374259558	missense variant	-	NC_000020.11:g.34921022C>T	ESP,ExAC,gnomAD
ACSS2	Q9NR19	p.Tyr388His	rs1345914883	missense variant	-	NC_000020.11:g.34921024T>C	gnomAD
ACSS2	Q9NR19	p.Tyr388Ter	rs201529980	stop gained	-	NC_000020.11:g.34921026T>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Pro389Leu	rs553401428	missense variant	-	NC_000020.11:g.34921028C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Pro389Ser	rs1414153201	missense variant	-	NC_000020.11:g.34921027C>T	TOPMed
ACSS2	Q9NR19	p.Val391Met	rs770989356	missense variant	-	NC_000020.11:g.34921033G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Asn392Ser	rs1017668331	missense variant	-	NC_000020.11:g.34921037A>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg393Cys	rs759408653	missense variant	-	NC_000020.11:g.34921039C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Trp395Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.34921047G>A	NCI-TCGA
ACSS2	Q9NR19	p.Ile397Thr	rs752393225	missense variant	-	NC_000020.11:g.34921052T>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ile397Leu	rs141802801	missense variant	-	NC_000020.11:g.34921051A>C	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Lys400Ile	rs1166285332	missense variant	-	NC_000020.11:g.34921061A>T	TOPMed
ACSS2	Q9NR19	p.Thr404Asn	rs146190099	missense variant	-	NC_000020.11:g.34921073C>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr408Ala	rs376950557	missense variant	-	NC_000020.11:g.34921084A>G	ESP,ExAC,gnomAD
ACSS2	Q9NR19	p.Thr411Ile	rs370167177	missense variant	-	NC_000020.11:g.34921094C>T	ESP,ExAC,gnomAD
ACSS2	Q9NR19	p.Ala412Val	rs756784566	missense variant	-	NC_000020.11:g.34921097C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Arg414Cys	rs780837244	missense variant	-	NC_000020.11:g.34921102C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg414His	rs58845949	missense variant	-	NC_000020.11:g.34921103G>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Met417Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921113G>T	NCI-TCGA
ACSS2	Q9NR19	p.Met417Leu	rs754412224	missense variant	-	NC_000020.11:g.34921111A>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Met417Val	rs754412224	missense variant	-	NC_000020.11:g.34921111A>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu422Lys	rs755478287	missense variant	-	NC_000020.11:g.34921126G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu422Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921128G>T	NCI-TCGA
ACSS2	Q9NR19	p.Val424Ile	rs1237982969	missense variant	-	NC_000020.11:g.34921132G>A	gnomAD
ACSS2	Q9NR19	p.Thr425Ile	rs748416233	missense variant	-	NC_000020.11:g.34921136C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Lys426Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921330G>T	NCI-TCGA
ACSS2	Q9NR19	p.Lys426Met	rs1331221979	missense variant	-	NC_000020.11:g.34921139A>T	gnomAD
ACSS2	Q9NR19	p.His427Tyr	rs923632062	missense variant	-	NC_000020.11:g.34921331C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg429Trp	rs753221563	missense variant	-	NC_000020.11:g.34921337C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg429Gln	rs934925605	missense variant	-	NC_000020.11:g.34921338G>A	-
ACSS2	Q9NR19	p.Ala430Ser	rs373884170	missense variant	-	NC_000020.11:g.34921340G>T	ESP,ExAC,gnomAD
ACSS2	Q9NR19	p.Ala430Val	rs757428371	missense variant	-	NC_000020.11:g.34921341C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Ala430Thr	rs373884170	missense variant	-	NC_000020.11:g.34921340G>A	ESP,ExAC,gnomAD
ACSS2	Q9NR19	p.Ser431Tyr	rs781270440	missense variant	-	NC_000020.11:g.34921344C>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Leu432Phe	rs1460702309	missense variant	-	NC_000020.11:g.34921348G>C	gnomAD
ACSS2	Q9NR19	p.Leu432Val	rs970577813	missense variant	-	NC_000020.11:g.34921346T>G	TOPMed
ACSS2	Q9NR19	p.Gln433Glu	rs1310053453	missense variant	-	NC_000020.11:g.34921349C>G	gnomAD
ACSS2	Q9NR19	p.Gln433His	rs745995258	missense variant	-	NC_000020.11:g.34921351G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Gln433His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921351G>T	NCI-TCGA
ACSS2	Q9NR19	p.Leu435Ser	rs769832485	missense variant	-	NC_000020.11:g.34921356T>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Leu435Phe	rs1333937477	missense variant	-	NC_000020.11:g.34921357A>C	TOPMed
ACSS2	Q9NR19	p.Gly439Cys	rs775356311	missense variant	-	NC_000020.11:g.34921367G>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Gly439Ser	rs775356311	missense variant	-	NC_000020.11:g.34921367G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu440Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921370G>A	NCI-TCGA
ACSS2	Q9NR19	p.Asn443Lys	rs577466825	missense variant	-	NC_000020.11:g.34921381C>A	1000Genomes,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Pro444His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921383C>A	NCI-TCGA
ACSS2	Q9NR19	p.Pro444Leu	rs1163749337	missense variant	-	NC_000020.11:g.34921383C>T	gnomAD
ACSS2	Q9NR19	p.Glu445Ter	rs774131612	stop gained	-	NC_000020.11:g.34921385G>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu445Gln	rs774131612	missense variant	-	NC_000020.11:g.34921385G>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Trp447Ter	rs761591395	stop gained	-	NC_000020.11:g.34921392G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Leu448Ile	rs1395872009	missense variant	-	NC_000020.11:g.34921394C>A	TOPMed
ACSS2	Q9NR19	p.Arg452Gln	rs753153922	missense variant	-	NC_000020.11:g.34921407G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg452Trp	rs765895564	missense variant	-	NC_000020.11:g.34921406C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Val454Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921412G>A	NCI-TCGA
ACSS2	Q9NR19	p.Gly455Asp	rs1177860432	missense variant	-	NC_000020.11:g.34921416G>A	TOPMed
ACSS2	Q9NR19	p.Ala456Val	rs757594360	missense variant	-	NC_000020.11:g.34921419C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Ala456Ser	rs144061380	missense variant	-	NC_000020.11:g.34921418G>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala456Thr	rs144061380	missense variant	-	NC_000020.11:g.34921418G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gln457Glu	rs1170749059	missense variant	-	NC_000020.11:g.34921421C>G	gnomAD
ACSS2	Q9NR19	p.Gln457Ter	rs1170749059	stop gained	-	NC_000020.11:g.34921421C>T	gnomAD
ACSS2	Q9NR19	p.Arg458Cys	rs373930264	missense variant	-	NC_000020.11:g.34921424C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg458His	rs746077019	missense variant	-	NC_000020.11:g.34921425G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Pro460Thr	rs1357205434	missense variant	-	NC_000020.11:g.34921430C>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Pro460Ala	rs1357205434	missense variant	-	NC_000020.11:g.34921430C>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Ile461Met	rs150951175	missense variant	-	NC_000020.11:g.34921435C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val462Met	rs780114513	missense variant	-	NC_000020.11:g.34921436G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Asp463Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921440A>G	NCI-TCGA
ACSS2	Q9NR19	p.Thr464Ala	rs1360706307	missense variant	-	NC_000020.11:g.34921442A>G	gnomAD
ACSS2	Q9NR19	p.Trp466Ter	rs1432184379	stop gained	-	NC_000020.11:g.34921449G>A	gnomAD
ACSS2	Q9NR19	p.Gln467Glu	rs1309270603	missense variant	-	NC_000020.11:g.34921451C>G	TOPMed
ACSS2	Q9NR19	p.Gly472Ser	rs1365252670	missense variant	-	NC_000020.11:g.34921547G>A	gnomAD
ACSS2	Q9NR19	p.Gly472Asp	rs1435374127	missense variant	-	NC_000020.11:g.34921548G>A	gnomAD
ACSS2	Q9NR19	p.His473Arg	rs753911778	missense variant	-	NC_000020.11:g.34921551A>G	ExAC,gnomAD
ACSS2	Q9NR19	p.His473Gln	rs1237652976	missense variant	-	NC_000020.11:g.34921552C>G	TOPMed
ACSS2	Q9NR19	p.Met474Val	rs754979041	missense variant	-	NC_000020.11:g.34921553A>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Pro477Arg	rs779038706	missense variant	-	NC_000020.11:g.34921563C>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Pro479Ser	COSM3545592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34921568C>T	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Ala481Thr	rs200628498	missense variant	-	NC_000020.11:g.34921574G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Met484Val	rs1320135868	missense variant	-	NC_000020.11:g.34921583A>G	gnomAD
ACSS2	Q9NR19	p.Met484Thr	rs1327770577	missense variant	-	NC_000020.11:g.34921584T>C	gnomAD
ACSS2	Q9NR19	p.Gly487Ser	rs746685443	missense variant	-	NC_000020.11:g.34921592G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ser488Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921596C>A	NCI-TCGA
ACSS2	Q9NR19	p.Phe491Ser	rs746863807	missense variant	-	NC_000020.11:g.34921790T>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Phe493Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921797C>A	NCI-TCGA
ACSS2	Q9NR19	p.Phe494Ser	rs1452478600	missense variant	-	NC_000020.11:g.34921799T>C	gnomAD
ACSS2	Q9NR19	p.Gly495Asp	rs1250867153	missense variant	-	NC_000020.11:g.34921802G>A	gnomAD
ACSS2	Q9NR19	p.Val496Ala	rs59088485	missense variant	-	NC_000020.11:g.34921805T>C	1000Genomes,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val496Ala	RCV000755123	missense variant	Nonsyndromic cleft lip palate	NC_000020.11:g.34921805T>C	ClinVar
ACSS2	Q9NR19	p.Ala497Ser	rs1184299367	missense variant	-	NC_000020.11:g.34921807G>T	gnomAD
ACSS2	Q9NR19	p.Ala497Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921808C>T	NCI-TCGA
ACSS2	Q9NR19	p.Pro498Ser	rs930713244	missense variant	-	NC_000020.11:g.34921810C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Ile500Val	rs1049574776	missense variant	-	NC_000020.11:g.34921816A>G	gnomAD
ACSS2	Q9NR19	p.Asn502Lys	rs745504008	missense variant	-	NC_000020.11:g.34921824T>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu503Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921825G>A	NCI-TCGA
ACSS2	Q9NR19	p.Glu503Gln	COSM3840827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34921825G>C	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Ser504Tyr	rs774923327	missense variant	-	NC_000020.11:g.34921829C>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly505Arg	rs772525484	missense variant	-	NC_000020.11:g.34921831G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu506Asp	rs537752065	missense variant	-	NC_000020.11:g.34921836A>C	1000Genomes,ExAC,gnomAD
ACSS2	Q9NR19	p.Glu506Gln	rs955635187	missense variant	-	NC_000020.11:g.34921834G>C	TOPMed
ACSS2	Q9NR19	p.Glu507Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.34921837G>T	NCI-TCGA
ACSS2	Q9NR19	p.Glu507Lys	rs372652815	missense variant	-	NC_000020.11:g.34921837G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu509Gln	rs766636356	missense variant	-	NC_000020.11:g.34921843G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu511Asp	rs759623142	missense variant	-	NC_000020.11:g.34921851A>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Ala512Thr	rs59116442	missense variant	-	NC_000020.11:g.34921852G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu513Asp	rs752787424	missense variant	-	NC_000020.11:g.34921857A>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu513Gly	rs1227972934	missense variant	-	NC_000020.11:g.34921856A>G	gnomAD
ACSS2	Q9NR19	p.Glu513Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34921855G>A	NCI-TCGA
ACSS2	Q9NR19	p.Tyr515Phe	rs1339810045	missense variant	-	NC_000020.11:g.34921862A>T	gnomAD
ACSS2	Q9NR19	p.Val517Met	rs919947840	missense variant	-	NC_000020.11:g.34923323G>A	TOPMed
ACSS2	Q9NR19	p.Phe518SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.34923327_34923334TCAAGCAG>-	NCI-TCGA
ACSS2	Q9NR19	p.Gln520His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34923334G>T	NCI-TCGA
ACSS2	Q9NR19	p.Pro521Ser	rs1324465329	missense variant	-	NC_000020.11:g.34923335C>T	gnomAD
ACSS2	Q9NR19	p.Pro523Leu	rs1377448000	missense variant	-	NC_000020.11:g.34923342C>T	gnomAD
ACSS2	Q9NR19	p.Met526Thr	rs757084938	missense variant	-	NC_000020.11:g.34923351T>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg527His	rs767366802	missense variant	-	NC_000020.11:g.34923354G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Arg527Cys	rs1202398973	missense variant	-	NC_000020.11:g.34923353C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr528Lys	rs375346989	missense variant	-	NC_000020.11:g.34923357C>A	ESP,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val529Leu	rs60299071	missense variant	-	NC_000020.11:g.34923359G>C	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val529Ile	rs60299071	missense variant	-	NC_000020.11:g.34923359G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Tyr530Cys	rs1318697771	missense variant	-	NC_000020.11:g.34923363A>G	gnomAD
ACSS2	Q9NR19	p.Asn532Ser	rs1186720435	missense variant	-	NC_000020.11:g.34923369A>G	gnomAD
ACSS2	Q9NR19	p.Glu534Lys	rs754546126	missense variant	-	NC_000020.11:g.34923374G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg535His	rs747577313	missense variant	-	NC_000020.11:g.34923378G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Arg535Cys	rs370804534	missense variant	-	NC_000020.11:g.34923377C>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg535Leu	rs747577313	missense variant	-	NC_000020.11:g.34923378G>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu537Lys	rs771306432	missense variant	-	NC_000020.11:g.34923383G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Thr538Ser	rs114973052	missense variant	-	NC_000020.11:g.34923386A>T	1000Genomes,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr538Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34923387C>G	NCI-TCGA
ACSS2	Q9NR19	p.Thr539Ala	rs1307128288	missense variant	-	NC_000020.11:g.34923389A>G	TOPMed
ACSS2	Q9NR19	p.Tyr540Cys	rs1465824587	missense variant	-	NC_000020.11:g.34923393A>G	gnomAD
ACSS2	Q9NR19	p.Tyr540Asp	rs1265751893	missense variant	-	NC_000020.11:g.34923392T>G	gnomAD
ACSS2	Q9NR19	p.Tyr540Ser	rs1465824587	missense variant	-	NC_000020.11:g.34923393A>C	gnomAD
ACSS2	Q9NR19	p.Lys543Ter	rs746286796	stop gained	-	NC_000020.11:g.34923401A>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Pro545Leu	rs867087873	missense variant	-	NC_000020.11:g.34923408C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Tyr548His	rs1376866457	missense variant	-	NC_000020.11:g.34923416T>C	TOPMed
ACSS2	Q9NR19	p.Tyr548Cys	rs530608402	missense variant	-	NC_000020.11:g.34923417A>G	1000Genomes,ExAC,gnomAD
ACSS2	Q9NR19	p.Asp552Val	rs1201538340	missense variant	-	NC_000020.11:g.34923429A>T	gnomAD
ACSS2	Q9NR19	p.Asp552Glu	rs763201560	missense variant	-	NC_000020.11:g.34923430T>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly553Ser	rs768795904	missense variant	-	NC_000020.11:g.34923431G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Gly553Val	rs768719024	missense variant	-	NC_000020.11:g.34925698G>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Arg556Gln	rs761846257	missense variant	-	NC_000020.11:g.34925707G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Arg556Trp	rs774600970	missense variant	-	NC_000020.11:g.34925706C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Asp559Asn	rs1283297000	missense variant	-	NC_000020.11:g.34925715G>A	TOPMed
ACSS2	Q9NR19	p.Gly560Ser	COSM3545594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34925718G>A	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Tyr561Cys	rs1181773751	missense variant	-	NC_000020.11:g.34925722A>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr565Ile	rs772177672	missense variant	-	NC_000020.11:g.34925734C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr565Asn	COSM1026130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34925734C>A	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Gly566Ser	rs1244663199	missense variant	-	NC_000020.11:g.34925736G>A	TOPMed
ACSS2	Q9NR19	p.Ile568Thr	rs779093164	missense variant	-	NC_000020.11:g.34925743T>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Asp569Val	rs1428052681	missense variant	-	NC_000020.11:g.34925746A>T	gnomAD
ACSS2	Q9NR19	p.Asp570Asn	rs1342569680	missense variant	-	NC_000020.11:g.34925748G>A	gnomAD
ACSS2	Q9NR19	p.Met571Leu	rs753593432	missense variant	-	NC_000020.11:g.34925751A>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Met571Thr	rs368193617	missense variant	-	NC_000020.11:g.34925752T>C	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Met571Lys	rs368193617	missense variant	-	NC_000020.11:g.34925752T>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Asn573Ser	rs1302143681	missense variant	-	NC_000020.11:g.34925758A>G	gnomAD
ACSS2	Q9NR19	p.Val574Ile	rs1164268952	missense variant	-	NC_000020.11:g.34925760G>A	TOPMed
ACSS2	Q9NR19	p.Ser580Asn	rs746967908	missense variant	-	NC_000020.11:g.34926117G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Thr581Ile	rs1314536810	missense variant	-	NC_000020.11:g.34926120C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala582Thr	rs770899119	missense variant	-	NC_000020.11:g.34926122G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Leu588Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34926141T>C	NCI-TCGA
ACSS2	Q9NR19	p.Leu588Phe	rs1463559405	missense variant	-	NC_000020.11:g.34926140C>T	TOPMed,gnomAD
ACSS2	Q9NR19	p.Val589Ala	rs914417974	missense variant	-	NC_000020.11:g.34926144T>C	TOPMed
ACSS2	Q9NR19	p.His591Arg	rs1210855733	missense variant	-	NC_000020.11:g.34926150A>G	gnomAD
ACSS2	Q9NR19	p.Glu592Lys	rs1242849536	missense variant	-	NC_000020.11:g.34926152G>A	gnomAD
ACSS2	Q9NR19	p.Glu592Ala	rs759310107	missense variant	-	NC_000020.11:g.34926153A>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Glu592Gln	rs1242849536	missense variant	-	NC_000020.11:g.34926152G>C	gnomAD
ACSS2	Q9NR19	p.Ala593Thr	rs1202966100	missense variant	-	NC_000020.11:g.34926155G>A	TOPMed
ACSS2	Q9NR19	p.Ala593Val	rs1444654828	missense variant	-	NC_000020.11:g.34926156C>T	TOPMed
ACSS2	Q9NR19	p.Val594Ile	rs775012077	missense variant	-	NC_000020.11:g.34926158G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala595Gly	rs762610058	missense variant	-	NC_000020.11:g.34926162C>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val600Met	rs199960234	missense variant	-	NC_000020.11:g.34926176G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Val600Ala	rs1410628617	missense variant	-	NC_000020.11:g.34926177T>C	gnomAD
ACSS2	Q9NR19	p.Gly601Ala	rs45486997	missense variant	-	NC_000020.11:g.34926180G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.His602Tyr	COSM3545596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34926182C>T	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Val606Ala	rs756796073	missense variant	-	NC_000020.11:g.34926195T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Val606Met	rs1345479489	missense variant	-	NC_000020.11:g.34926194G>A	gnomAD
ACSS2	Q9NR19	p.Gly608Ser	rs767041380	missense variant	-	NC_000020.11:g.34926200G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly608Asp	rs754381719	missense variant	-	NC_000020.11:g.34926201G>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly608Val	rs754381719	missense variant	-	NC_000020.11:g.34926201G>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val615SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.34926221G>-	NCI-TCGA
ACSS2	Q9NR19	p.Val615Asp	COSM4097833	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34926222T>A	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Thr616Ile	rs755363402	missense variant	-	NC_000020.11:g.34926225C>T	ExAC,TOPMed
ACSS2	Q9NR19	p.Thr616MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.34926220_34926229TGTCACCTTG>-	NCI-TCGA
ACSS2	Q9NR19	p.Cys618Tyr	rs1327165785	missense variant	-	NC_000020.11:g.34926231G>A	gnomAD
ACSS2	Q9NR19	p.Cys618Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34926231G>T	NCI-TCGA
ACSS2	Q9NR19	p.Asp619Val	rs371439681	missense variant	-	NC_000020.11:g.34926234A>T	ESP,TOPMed
ACSS2	Q9NR19	p.Gly620Ser	rs1406777510	missense variant	-	NC_000020.11:g.34926236G>A	TOPMed
ACSS2	Q9NR19	p.His621Tyr	rs1335803848	missense variant	-	NC_000020.11:g.34926239C>T	TOPMed
ACSS2	Q9NR19	p.Thr622Ile	rs748328241	missense variant	-	NC_000020.11:g.34926243C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Pro625Arg	rs758594236	missense variant	-	NC_000020.11:g.34926252C>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr628Asn	rs1451315074	missense variant	-	NC_000020.11:g.34926261C>A	gnomAD
ACSS2	Q9NR19	p.Thr628Ile	COSM4097835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.34926261C>T	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Glu629Lys	rs376823511	missense variant	-	NC_000020.11:g.34926263G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Lys633Arg	rs770987285	missense variant	-	NC_000020.11:g.34926276A>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Gln634His	rs776619853	missense variant	-	NC_000020.11:g.34926280G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Glu637Ter	COSM1411340	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.34926882G>T	NCI-TCGA Cosmic
ACSS2	Q9NR19	p.Ile639Thr	rs1361352105	missense variant	-	NC_000020.11:g.34926889T>C	gnomAD
ACSS2	Q9NR19	p.Ile642Val	rs767129219	missense variant	-	NC_000020.11:g.34926897A>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Ile642Thr	rs754303246	missense variant	-	NC_000020.11:g.34926898T>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala643Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34926900G>A	NCI-TCGA
ACSS2	Q9NR19	p.Ala643Val	rs1482056196	missense variant	-	NC_000020.11:g.34926901C>T	gnomAD
ACSS2	Q9NR19	p.Thr644Ile	rs1183878646	missense variant	-	NC_000020.11:g.34926904C>T	gnomAD
ACSS2	Q9NR19	p.Asp646Ala	rs755452302	missense variant	-	NC_000020.11:g.34926910A>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Tyr647His	rs1364409251	missense variant	-	NC_000020.11:g.34926912T>C	TOPMed
ACSS2	Q9NR19	p.Gln649Arg	rs1179759861	missense variant	-	NC_000020.11:g.34926919A>G	gnomAD
ACSS2	Q9NR19	p.Asn650Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34926922A>G	NCI-TCGA
ACSS2	Q9NR19	p.Pro652Ala	rs1386644805	missense variant	-	NC_000020.11:g.34926927C>G	TOPMed,gnomAD
ACSS2	Q9NR19	p.Pro652His	rs1424884217	missense variant	-	NC_000020.11:g.34926928C>A	gnomAD
ACSS2	Q9NR19	p.Gly653Cys	rs141522623	missense variant	-	NC_000020.11:g.34926930G>T	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly653Ser	rs141522623	missense variant	-	NC_000020.11:g.34926930G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Gly653Ala	rs758672345	missense variant	-	NC_000020.11:g.34926931G>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Thr657Pro	rs977249507	missense variant	-	NC_000020.11:g.34926942A>C	TOPMed
ACSS2	Q9NR19	p.Arg658Cys	rs778031362	missense variant	-	NC_000020.11:g.34926945C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg658His	rs200708044	missense variant	-	NC_000020.11:g.34926946G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg658Pro	rs200708044	missense variant	-	NC_000020.11:g.34926946G>C	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Ser659Leu	rs781192715	missense variant	-	NC_000020.11:g.34926949C>T	ExAC,gnomAD
ACSS2	Q9NR19	p.Gly660Val	rs566694933	missense variant	-	NC_000020.11:g.34927087G>T	1000Genomes,ExAC,gnomAD
ACSS2	Q9NR19	p.Met663Ile	rs757422212	missense variant	-	NC_000020.11:g.34927097G>A	ExAC,gnomAD
ACSS2	Q9NR19	p.Arg664Trp	rs1283189673	missense variant	-	NC_000020.11:g.34927098A>T	TOPMed
ACSS2	Q9NR19	p.Arg665Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34927102G>T	NCI-TCGA
ACSS2	Q9NR19	p.Arg665Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.34927101C>T	NCI-TCGA
ACSS2	Q9NR19	p.Arg665Gln	rs372698999	missense variant	-	NC_000020.11:g.34927102G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Val666Ala	rs750558216	missense variant	-	NC_000020.11:g.34927105T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.Arg668Gln	rs555249896	missense variant	-	NC_000020.11:g.34927111G>A	1000Genomes,ExAC,gnomAD
ACSS2	Q9NR19	p.Arg668Trp	rs199994014	missense variant	-	NC_000020.11:g.34927110C>T	1000Genomes,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Lys669Asn	rs1229262823	missense variant	-	NC_000020.11:g.34927115G>C	gnomAD
ACSS2	Q9NR19	p.Ile670Phe	rs60098280	missense variant	-	NC_000020.11:g.34927116A>T	gnomAD
ACSS2	Q9NR19	p.Ile670Thr	rs1344300409	missense variant	-	NC_000020.11:g.34927117T>C	TOPMed,gnomAD
ACSS2	Q9NR19	p.Ala671Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34927119G>A	NCI-TCGA
ACSS2	Q9NR19	p.Gln672His	rs1264509322	missense variant	-	NC_000020.11:g.34927124G>C	gnomAD
ACSS2	Q9NR19	p.Gln672Arg	rs778789107	missense variant	-	NC_000020.11:g.34927123A>G	ExAC,gnomAD
ACSS2	Q9NR19	p.Gly678Arg	rs565890354	missense variant	-	NC_000020.11:g.34927140G>A	TOPMed,gnomAD
ACSS2	Q9NR19	p.Met680Ile	rs1448361231	missense variant	-	NC_000020.11:g.34927148G>A	gnomAD
ACSS2	Q9NR19	p.Ser681Phe	rs1194430223	missense variant	-	NC_000020.11:g.34927150C>T	gnomAD
ACSS2	Q9NR19	p.Ser687Ala	rs1477355430	missense variant	-	NC_000020.11:g.34927167T>G	gnomAD
ACSS2	Q9NR19	p.Ser687Pro	rs1477355430	missense variant	-	NC_000020.11:g.34927167T>C	gnomAD
ACSS2	Q9NR19	p.Val688Ile	rs1282759700	missense variant	-	NC_000020.11:g.34927170G>A	TOPMed
ACSS2	Q9NR19	p.Ile689Thr	rs760294223	missense variant	-	NC_000020.11:g.34927174T>C	ExAC,gnomAD
ACSS2	Q9NR19	p.His695Tyr	rs776073180	missense variant	-	NC_000020.11:g.34927191C>T	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.His695Asp	rs776073180	missense variant	-	NC_000020.11:g.34927191C>G	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.His695Asn	rs776073180	missense variant	-	NC_000020.11:g.34927191C>A	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg696His	rs376543322	missense variant	-	NC_000020.11:g.34927195G>A	ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Arg696Cys	rs59803261	missense variant	-	NC_000020.11:g.34927194C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Cys697Ser	rs762136124	missense variant	-	NC_000020.11:g.34927198G>C	ExAC,TOPMed,gnomAD
ACSS2	Q9NR19	p.Thr699Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.34927203A>G	NCI-TCGA
ACSS2	Q9NR19	p.Thr699Pro	rs1285068457	missense variant	-	NC_000020.11:g.34927203A>C	gnomAD
EIF2B3	Q9NR50	p.Val6Leu	rs1310971450	missense variant	-	NC_000001.11:g.44981153C>A	gnomAD
EIF2B3	Q9NR50	p.Val7Leu	rs1452372773	missense variant	-	NC_000001.11:g.44981150C>A	gnomAD
EIF2B3	Q9NR50	p.Met8Leu	rs182877101	missense variant	-	NC_000001.11:g.44981147T>A	1000Genomes,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ala9Val	rs1339247443	missense variant	-	NC_000001.11:g.44981143G>A	gnomAD
EIF2B3	Q9NR50	p.Val10Ile	rs1456181265	missense variant	-	NC_000001.11:g.44981141C>T	gnomAD
EIF2B3	Q9NR50	p.Gly11Val	RCV000317347	missense variant	-	NC_000001.11:g.44981137C>A	ClinVar
EIF2B3	Q9NR50	p.Gly11Asp	rs754415797	missense variant	-	NC_000001.11:g.44981137C>T	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gly11Val	rs754415797	missense variant	-	NC_000001.11:g.44981137C>A	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gly11Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44981138C>A	NCI-TCGA
EIF2B3	Q9NR50	p.Ser14Pro	rs899472467	missense variant	-	NC_000001.11:g.44981129A>G	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg15Gln	rs200409938	missense variant	-	NC_000001.11:g.44981125C>T	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg15Gln	RCV000348967	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981125C>T	ClinVar
EIF2B3	Q9NR50	p.Arg15Trp	rs775048786	missense variant	-	NC_000001.11:g.44981126G>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Thr17Arg	rs778585151	missense variant	-	NC_000001.11:g.44981119G>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Thr20Asn	rs749071361	missense variant	-	NC_000001.11:g.44981110G>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Pro24Leu	rs151320540	missense variant	-	NC_000001.11:g.44981098G>A	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Lys25Arg	rs1205822338	missense variant	-	NC_000001.11:g.44981095T>C	gnomAD
EIF2B3	Q9NR50	p.Leu27Gln	RCV000033201	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981089A>T	ClinVar
EIF2B3	Q9NR50	p.Leu27Gln	rs397514647	missense variant	Leukodystrophy with vanishing white matter (VWM)	NC_000001.11:g.44981089A>T	UniProt,dbSNP
EIF2B3	Q9NR50	p.Leu27Gln	VAR_068470	missense variant	Leukodystrophy with vanishing white matter (VWM)	NC_000001.11:g.44981089A>T	UniProt
EIF2B3	Q9NR50	p.Leu27Gln	rs397514647	missense variant	Leukoencephalopathy with vanishing white matter (vwm)	NC_000001.11:g.44981089A>T	-
EIF2B3	Q9NR50	p.Val30Ala	rs752636698	missense variant	-	NC_000001.11:g.44981080A>G	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Val30Ile	rs1166463038	missense variant	-	NC_000001.11:g.44981081C>T	gnomAD
EIF2B3	Q9NR50	p.Val30Ala	RCV000754838	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981080A>G	ClinVar
EIF2B3	Q9NR50	p.Lys33Glu	RCV000679852	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981072T>C	ClinVar
EIF2B3	Q9NR50	p.Lys33Arg	rs1425955684	missense variant	-	NC_000001.11:g.44981071T>C	TOPMed
EIF2B3	Q9NR50	p.Pro34His	rs1245591325	missense variant	-	NC_000001.11:g.44981068G>T	gnomAD
EIF2B3	Q9NR50	p.Leu35Val	rs1383986485	missense variant	-	NC_000001.11:g.44981066A>C	gnomAD
EIF2B3	Q9NR50	p.Trp37Cys	rs1463370390	missense variant	-	NC_000001.11:g.44981058C>A	gnomAD
EIF2B3	Q9NR50	p.Trp37Arg	rs1469488659	missense variant	-	NC_000001.11:g.44981060A>G	TOPMed
EIF2B3	Q9NR50	p.Tyr38His	rs1174475428	missense variant	-	NC_000001.11:g.44981057A>G	TOPMed
EIF2B3	Q9NR50	p.Pro39Ala	rs1317663539	missense variant	-	NC_000001.11:g.44981054G>C	gnomAD
EIF2B3	Q9NR50	p.Leu40Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44981049C>A	NCI-TCGA
EIF2B3	Q9NR50	p.Leu43Pro	rs1326385218	missense variant	-	NC_000001.11:g.44981041A>G	gnomAD
EIF2B3	Q9NR50	p.Glu44Lys	rs201162647	missense variant	-	NC_000001.11:g.44981039C>T	1000Genomes,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Glu44Lys	RCV000296409	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981039C>T	ClinVar
EIF2B3	Q9NR50	p.Glu44Gln	rs201162647	missense variant	-	NC_000001.11:g.44981039C>G	1000Genomes,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg45Leu	rs139445917	missense variant	-	NC_000001.11:g.44981035C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg45His	rs139445917	missense variant	-	NC_000001.11:g.44981035C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg45Cys	rs191579939	missense variant	-	NC_000001.11:g.44981036G>A	1000Genomes,ESP,ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly47Glu	VAR_068471	Missense	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	-	UniProt
EIF2B3	Q9NR50	p.Val54Ile	rs1198822553	missense variant	-	NC_000001.11:g.44978449C>T	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Val54Phe	rs1198822553	missense variant	-	NC_000001.11:g.44978449C>A	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Val54Phe	rs1198822553	missense variant	-	NC_000001.11:g.44978449C>A	NCI-TCGA
EIF2B3	Q9NR50	p.Thr55Ser	rs1310369038	missense variant	-	NC_000001.11:g.44978446T>A	TOPMed
EIF2B3	Q9NR50	p.Thr56Ser	rs1229439940	missense variant	-	NC_000001.11:g.44978443T>A	TOPMed
EIF2B3	Q9NR50	p.Lys61Arg	rs780307542	missense variant	-	NC_000001.11:g.44978427T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ala62Val	COSM910099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44978424G>A	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Ala62Pro	rs758627166	missense variant	-	NC_000001.11:g.44978425C>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ala62Thr	rs758627166	missense variant	-	NC_000001.11:g.44978425C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Cys64Arg	rs757621916	missense variant	-	NC_000001.11:g.44978419A>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Cys64Tyr	COSM910098	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44978418C>T	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Ala65Val	rs1340794110	missense variant	-	NC_000001.11:g.44978415G>A	TOPMed
EIF2B3	Q9NR50	p.Glu66Gln	rs1442706104	missense variant	-	NC_000001.11:g.44978413C>G	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Met69Thr	rs761201445	missense variant	-	NC_000001.11:g.44978403A>G	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Met69Val	rs764519183	missense variant	-	NC_000001.11:g.44978404T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Lys70Glu	rs1395655361	missense variant	-	NC_000001.11:g.44978401T>C	gnomAD
EIF2B3	Q9NR50	p.Pro73Ala	rs765921585	missense variant	-	NC_000001.11:g.44978392G>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Asp74Asn	rs1441108536	missense variant	-	NC_000001.11:g.44978389C>T	gnomAD
EIF2B3	Q9NR50	p.Asp74Ala	rs1354865390	missense variant	-	NC_000001.11:g.44978388T>G	gnomAD
EIF2B3	Q9NR50	p.Ile75Thr	rs144054571	missense variant	-	NC_000001.11:g.44978385A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ile75Thr	RCV000593792	missense variant	-	NC_000001.11:g.44978385A>G	ClinVar
EIF2B3	Q9NR50	p.Val76Met	rs774721437	missense variant	-	NC_000001.11:g.44978383C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Val76MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.44978383_44978384insAT	NCI-TCGA
EIF2B3	Q9NR50	p.Cys77Tyr	rs768258901	missense variant	-	NC_000001.11:g.44978379C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Cys77Gly	rs1159173232	missense variant	-	NC_000001.11:g.44978380A>C	gnomAD
EIF2B3	Q9NR50	p.Ala82Thr	rs776568212	missense variant	-	NC_000001.11:g.44978365C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ala82Thr	rs776568212	missense variant	-	NC_000001.11:g.44978365C>T	NCI-TCGA
EIF2B3	Q9NR50	p.Met84Val	rs768670174	missense variant	-	NC_000001.11:g.44978359T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly85Glu	rs746995968	missense variant	-	NC_000001.11:g.44978355C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ala87Val	rs113994022	missense variant	Leukoencephalopathy with vanishing white matter (vwm)	NC_000001.11:g.44978349G>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ala87Val	RCV000004689	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44978349G>A	ClinVar
EIF2B3	Q9NR50	p.Leu90Val	rs1166774581	missense variant	-	NC_000001.11:g.44978341A>C	TOPMed
EIF2B3	Q9NR50	p.Arg91Cys	rs772111952	missense variant	-	NC_000001.11:g.44978338G>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg91His	rs141988913	missense variant	-	NC_000001.11:g.44978337C>T	ESP,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg91His	RCV000763340	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44978337C>T	ClinVar
EIF2B3	Q9NR50	p.Arg91His	RCV000498180	missense variant	-	NC_000001.11:g.44978337C>T	ClinVar
EIF2B3	Q9NR50	p.Tyr92Cys	rs746090884	missense variant	-	NC_000001.11:g.44978334T>C	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ile93Val	rs1292740512	missense variant	-	NC_000001.11:g.44978332T>C	TOPMed
EIF2B3	Q9NR50	p.Ile93Met	rs1449745508	missense variant	-	NC_000001.11:g.44978330T>C	gnomAD
EIF2B3	Q9NR50	p.Pro95Gln	rs778945531	missense variant	-	NC_000001.11:g.44978325G>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Pro95Leu	rs778945531	missense variant	-	NC_000001.11:g.44978325G>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Leu97Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44978320G>T	NCI-TCGA
EIF2B3	Q9NR50	p.Cys106Ser	rs768615168	missense variant	-	NC_000001.11:g.44941643C>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Cys106Phe	rs768615168	missense variant	-	NC_000001.11:g.44941643C>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Leu108Val	rs760687647	missense variant	-	NC_000001.11:g.44941638G>C	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ile109Val	rs775628640	missense variant	-	NC_000001.11:g.44941635T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Thr110Pro	rs1426476205	missense variant	-	NC_000001.11:g.44941632T>G	TOPMed
EIF2B3	Q9NR50	p.Val112Ile	rs745869984	missense variant	-	NC_000001.11:g.44941626C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Val112Phe	COSM6126627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44941626C>A	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Ala113Val	rs373262348	missense variant	-	NC_000001.11:g.44941622G>A	ESP,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ala113Thr	rs1362979993	missense variant	-	NC_000001.11:g.44941623C>T	gnomAD
EIF2B3	Q9NR50	p.Glu116Ala	COSM4008458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44941613T>G	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Val117Ala	rs1423018308	missense variant	-	NC_000001.11:g.44941610A>G	gnomAD
EIF2B3	Q9NR50	p.Val117Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44941611C>T	NCI-TCGA
EIF2B3	Q9NR50	p.Leu120Gln	rs1164638252	missense variant	-	NC_000001.11:g.44941601A>T	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg122SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.44941594_44941595insA	NCI-TCGA
EIF2B3	Q9NR50	p.Ala123Val	rs749857178	missense variant	-	NC_000001.11:g.44941592G>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ala123Thr	rs755510412	missense variant	-	NC_000001.11:g.44941593C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Asp125Glu	rs764856042	missense variant	-	NC_000001.11:g.44941585A>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ala126Val	rs144947838	missense variant	-	NC_000001.11:g.44941583G>A	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Leu128Ile	rs965531974	missense variant	-	NC_000001.11:g.44941578G>T	TOPMed
EIF2B3	Q9NR50	p.Met130Ile	rs763969996	missense variant	-	NC_000001.11:g.44941570C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Met130Thr	rs753614565	missense variant	-	NC_000001.11:g.44941571A>G	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Met130Val	rs886046361	missense variant	-	NC_000001.11:g.44941572T>C	-
EIF2B3	Q9NR50	p.Met130Val	RCV000375562	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44941572T>C	ClinVar
EIF2B3	Q9NR50	p.Met132Leu	rs760489343	missense variant	-	NC_000001.11:g.44941566T>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly135Asp	rs771864524	missense variant	-	NC_000001.11:g.44941556C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly135Cys	rs775430377	missense variant	-	NC_000001.11:g.44941557C>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gln136Glu	rs759538945	missense variant	-	NC_000001.11:g.44941554G>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gln136Arg	rs113994023	missense variant	-	NC_000001.11:g.44941553T>C	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gln136Pro	rs113994023	missense variant	-	NC_000001.11:g.44941553T>G	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Asp137Val	rs1304063332	missense variant	-	NC_000001.11:g.44941550T>A	gnomAD
EIF2B3	Q9NR50	p.Ser138Gly	rs773479090	missense variant	-	NC_000001.11:g.44941548T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ile139Val	rs373870315	missense variant	-	NC_000001.11:g.44941545T>C	ESP
EIF2B3	Q9NR50	p.Pro141His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44941538G>T	NCI-TCGA
EIF2B3	Q9NR50	p.Pro143His	rs770013712	missense variant	-	NC_000001.11:g.44941532G>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly144Val	rs1217482975	missense variant	-	NC_000001.11:g.44941529C>A	TOPMed
EIF2B3	Q9NR50	p.Gly144Ser	rs781640168	missense variant	-	NC_000001.11:g.44941530C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gln145Lys	rs1196687035	missense variant	-	NC_000001.11:g.44941527G>T	gnomAD
EIF2B3	Q9NR50	p.Lys146Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44941523T>C	NCI-TCGA
EIF2B3	Q9NR50	p.Lys146Thr	COSM1343023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44941523T>G	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Gly147Glu	rs1269166334	missense variant	-	NC_000001.11:g.44941520C>T	gnomAD
EIF2B3	Q9NR50	p.Gly147Arg	RCV000318973	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44941521C>G	ClinVar
EIF2B3	Q9NR50	p.Gly147Arg	rs529374377	missense variant	-	NC_000001.11:g.44941521C>G	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Lys148Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44941517T>G	NCI-TCGA
EIF2B3	Q9NR50	p.Lys148Glu	rs151056457	missense variant	-	NC_000001.11:g.44941518T>C	1000Genomes,ExAC,TOPMed
EIF2B3	Q9NR50	p.Lys150SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.44941510_44941511TT>-	NCI-TCGA
EIF2B3	Q9NR50	p.Ala151Thr	rs148977100	missense variant	-	NC_000001.11:g.44941509C>T	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ala151GlnPheSerTerUnkUnk	rs748937918	frameshift	-	NC_000001.11:g.44941510T>-	NCI-TCGA,NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Arg155His	rs147773599	missense variant	-	NC_000001.11:g.44926730C>T	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg155Cys	rs564587689	missense variant	-	NC_000001.11:g.44926731G>A	1000Genomes,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Asp156Asn	rs755805377	missense variant	-	NC_000001.11:g.44926728C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Asp156Glu	rs1212896938	missense variant	-	NC_000001.11:g.44926726G>C	TOPMed
EIF2B3	Q9NR50	p.Asp156Tyr	rs755805377	missense variant	-	NC_000001.11:g.44926728C>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ile158Thr	rs1162725437	missense variant	-	NC_000001.11:g.44926721A>G	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ile158Ser	COSM4008457	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44926721A>C	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Asp161Asn	rs1244905492	missense variant	-	NC_000001.11:g.44926713C>T	gnomAD
EIF2B3	Q9NR50	p.Thr163Ile	rs1191002259	missense variant	-	NC_000001.11:g.44926706G>A	gnomAD
EIF2B3	Q9NR50	p.Lys165Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44926700T>C	NCI-TCGA
EIF2B3	Q9NR50	p.Arg166Ser	rs1261172003	missense variant	-	NC_000001.11:g.44926696C>G	gnomAD
EIF2B3	Q9NR50	p.Arg166Lys	rs752434700	missense variant	-	NC_000001.11:g.44926697C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Leu168Val	rs767209968	missense variant	-	NC_000001.11:g.44926692G>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Met170Leu	rs1085307682	missense variant	-	NC_000001.11:g.44926686T>G	TOPMed
EIF2B3	Q9NR50	p.Met170Thr	rs1356151673	missense variant	-	NC_000001.11:g.44926685A>G	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Met170Leu	RCV000489845	missense variant	-	NC_000001.11:g.44926686T>G	ClinVar
EIF2B3	Q9NR50	p.Ala171Thr	rs201318616	missense variant	-	NC_000001.11:g.44926683C>T	1000Genomes
EIF2B3	Q9NR50	p.Glu173Lys	COSM4008456	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44926677C>T	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Glu179Ter	COSM910096	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.44926659C>A	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Gly184Arg	COSM3490183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44926644C>T	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Ile186Val	rs775973608	missense variant	-	NC_000001.11:g.44926638T>C	gnomAD
EIF2B3	Q9NR50	p.Gln188His	rs545295324	missense variant	-	NC_000001.11:g.44926630C>A	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Pro191Arg	rs747741036	missense variant	-	NC_000001.11:g.44897439G>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Arg192Gly	rs572440776	missense variant	-	NC_000001.11:g.44897437T>C	1000Genomes,ExAC,gnomAD
EIF2B3	Q9NR50	p.Ile193Val	rs954719897	missense variant	-	NC_000001.11:g.44897434T>C	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg194Cys	rs1343195505	missense variant	-	NC_000001.11:g.44897431G>A	gnomAD
EIF2B3	Q9NR50	p.Arg194His	rs754587808	missense variant	-	NC_000001.11:g.44897430C>T	NCI-TCGA
EIF2B3	Q9NR50	p.Arg194His	rs754587808	missense variant	-	NC_000001.11:g.44897430C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Phe195Cys	rs768160221	missense variant	-	NC_000001.11:g.44897427A>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Phe195Tyr	rs768160221	missense variant	-	NC_000001.11:g.44897427A>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.His196Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44897425G>A	NCI-TCGA
EIF2B3	Q9NR50	p.Thr197Lys	rs749213552	missense variant	-	NC_000001.11:g.44897421G>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Thr197Met	rs749213552	missense variant	-	NC_000001.11:g.44897421G>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Thr197Met	rs749213552	missense variant	-	NC_000001.11:g.44897421G>A	NCI-TCGA,NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Val200Gly	rs765291246	missense variant	-	NC_000001.11:g.44897412A>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Asp201Glu	rs1407552201	missense variant	-	NC_000001.11:g.44897408A>C	TOPMed
EIF2B3	Q9NR50	p.Ala202Ser	rs539215452	missense variant	-	NC_000001.11:g.44897407C>A	1000Genomes,ExAC,gnomAD
EIF2B3	Q9NR50	p.Ala202Gly	rs753871128	missense variant	-	NC_000001.11:g.44897406G>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.His203Arg	rs764338643	missense variant	-	NC_000001.11:g.44897403T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Tyr205Cys	rs1325188133	missense variant	-	NC_000001.11:g.44897397T>C	TOPMed
EIF2B3	Q9NR50	p.Tyr205Ter	COSM910095	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.44897396G>T	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Tyr210Cys	rs1198932499	missense variant	-	NC_000001.11:g.44897382T>C	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Tyr210His	rs1427372133	missense variant	-	NC_000001.11:g.44897383A>G	gnomAD
EIF2B3	Q9NR50	p.Val212Met	RCV000305963	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44897377C>T	ClinVar
EIF2B3	Q9NR50	p.Val212Met	rs373839928	missense variant	-	NC_000001.11:g.44897377C>T	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Met216Thr	rs1437693828	missense variant	-	NC_000001.11:g.44897364A>G	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gly219Trp	rs775053819	missense variant	-	NC_000001.11:g.44897356C>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly219Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44897355C>T	NCI-TCGA
EIF2B3	Q9NR50	p.Gly219Arg	rs775053819	missense variant	-	NC_000001.11:g.44897356C>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ser220Ter	rs1423816360	stop gained	-	NC_000001.11:g.44881737G>C	TOPMed
EIF2B3	Q9NR50	p.Arg225Gln	rs113994024	missense variant	Leukoencephalopathy with vanishing white matter (vwm)	NC_000001.11:g.44881722C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg225Gln	RCV000004687	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44881722C>T	ClinVar
EIF2B3	Q9NR50	p.Arg225Trp	rs766866104	missense variant	-	NC_000001.11:g.44881723G>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Glu227Lys	rs1157148757	missense variant	-	NC_000001.11:g.44881717C>T	gnomAD
EIF2B3	Q9NR50	p.Ile229Leu	rs768087422	missense variant	-	NC_000001.11:g.44881711T>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ile229Met	rs538917969	missense variant	-	NC_000001.11:g.44881709A>C	1000Genomes,ExAC,gnomAD
EIF2B3	Q9NR50	p.Pro230Ser	COSM3490181	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44881708G>A	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Gln236Glu	RCV000754860	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44881690G>C	ClinVar
EIF2B3	Q9NR50	p.Phe237Ser	rs1183011377	missense variant	-	NC_000001.11:g.44881686A>G	gnomAD
EIF2B3	Q9NR50	p.Ser239Pro	rs775070429	missense variant	-	NC_000001.11:g.44881681A>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ala240Pro	rs771719069	missense variant	-	NC_000001.11:g.44881678C>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ser242Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44881671G>A	NCI-TCGA
EIF2B3	Q9NR50	p.Gln243Arg	rs745626063	missense variant	-	NC_000001.11:g.44881668T>C	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gln243His	rs1421264085	missense variant	-	NC_000001.11:g.44881667T>G	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gln244Glu	rs778596154	missense variant	-	NC_000001.11:g.44881666G>C	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gln244Arg	rs1475528092	missense variant	-	NC_000001.11:g.44881665T>C	gnomAD
EIF2B3	Q9NR50	p.Gly245Arg	rs749223861	missense variant	-	NC_000001.11:g.44881663C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly245AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.44881662C>-	NCI-TCGA
EIF2B3	Q9NR50	p.Glu248Gly	rs886046360	missense variant	-	NC_000001.11:g.44881653T>C	-
EIF2B3	Q9NR50	p.Glu248Gly	RCV000267466	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44881653T>C	ClinVar
EIF2B3	Q9NR50	p.Glu248Gln	rs777903500	missense variant	-	NC_000001.11:g.44881654C>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Asp252Asn	rs756206284	missense variant	-	NC_000001.11:g.44881642C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Asp252Glu	rs752836193	missense variant	-	NC_000001.11:g.44881640A>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Leu253Gln	rs767779243	missense variant	-	NC_000001.11:g.44881638A>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Lys254Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44881634C>G	NCI-TCGA
EIF2B3	Q9NR50	p.Ile263Thr	rs749235251	missense variant	-	NC_000001.11:g.44880005A>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ile267Lys	rs777513653	missense variant	-	NC_000001.11:g.44879993A>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Glu269Ter	rs756123675	stop gained	-	NC_000001.11:g.44879988C>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Glu269Lys	rs756123675	missense variant	-	NC_000001.11:g.44879988C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ala270Thr	rs1280332396	missense variant	-	NC_000001.11:g.44879985C>T	gnomAD
EIF2B3	Q9NR50	p.Asn271Asp	rs1403380001	missense variant	-	NC_000001.11:g.44879982T>C	gnomAD
EIF2B3	Q9NR50	p.Asn271Ser	rs935336864	missense variant	-	NC_000001.11:g.44879981T>C	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Tyr278Cys	rs199893632	missense variant	-	NC_000001.11:g.44879960T>C	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Tyr278Cys	RCV000192378	missense variant	-	NC_000001.11:g.44879960T>C	ClinVar
EIF2B3	Q9NR50	p.Asp279Asn	rs755224836	missense variant	-	NC_000001.11:g.44879958C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ala280Thr	rs759452164	missense variant	-	NC_000001.11:g.44879955C>T	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ala280Ser	rs759452164	missense variant	-	NC_000001.11:g.44879955C>A	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Asn283Ser	rs1425237496	missense variant	-	NC_000001.11:g.44879945T>C	gnomAD
EIF2B3	Q9NR50	p.Asn283Lys	rs373822484	missense variant	-	NC_000001.11:g.44879944A>T	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ala284Asp	rs1234430228	missense variant	-	NC_000001.11:g.44879942G>T	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ala284Val	COSM4008455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44879942G>A	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Cys285Tyr	rs766757800	missense variant	-	NC_000001.11:g.44879939C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Arg286Gln	rs371478084	missense variant	-	NC_000001.11:g.44879936C>T	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg286Ter	rs1334771611	stop gained	-	NC_000001.11:g.44879937G>A	gnomAD
EIF2B3	Q9NR50	p.Asp288Glu	rs3738247	missense variant	-	NC_000001.11:g.44879929G>C	UniProt,dbSNP
EIF2B3	Q9NR50	p.Asp288Glu	VAR_048920	missense variant	-	NC_000001.11:g.44879929G>C	UniProt
EIF2B3	Q9NR50	p.Asp288Glu	rs3738247	missense variant	-	NC_000001.11:g.44879929G>C	1000Genomes,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Asp288Asn	rs750807171	missense variant	-	NC_000001.11:g.44879931C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Leu293Phe	rs527264601	missense variant	-	NC_000001.11:g.44879914C>G	1000Genomes,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ser294Thr	rs565005625	missense variant	-	NC_000001.11:g.44879913A>T	1000Genomes,ExAC,gnomAD
EIF2B3	Q9NR50	p.Arg295Gly	rs1221861482	missense variant	-	NC_000001.11:g.44879910T>C	gnomAD
EIF2B3	Q9NR50	p.Ser296Leu	rs759186119	missense variant	-	NC_000001.11:g.44879906G>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Val298Leu	rs776756653	missense variant	-	NC_000001.11:g.44879901C>G	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Val298Gly	rs1371706573	missense variant	-	NC_000001.11:g.44879900A>C	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Val298Met	rs776756653	missense variant	-	NC_000001.11:g.44879901C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg299Cys	rs368540656	missense variant	-	NC_000001.11:g.44879898G>A	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg299His	rs528321143	missense variant	-	NC_000001.11:g.44879897C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Cys300Tyr	COSM4008454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44879894C>T	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Met305Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44879880T>C	NCI-TCGA
EIF2B3	Q9NR50	p.Met305Thr	rs769802165	missense variant	-	NC_000001.11:g.44879879A>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Glu307Gln	rs748141041	missense variant	-	NC_000001.11:g.44879874C>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly308Val	rs768921509	missense variant	-	NC_000001.11:g.44879870C>A	ExAC,TOPMed
EIF2B3	Q9NR50	p.Gly308Glu	rs768921509	missense variant	-	NC_000001.11:g.44879870C>T	ExAC,TOPMed
EIF2B3	Q9NR50	p.Leu309Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44879868G>A	NCI-TCGA
EIF2B3	Q9NR50	p.Cys310Ser	rs747128213	missense variant	-	NC_000001.11:g.44879864C>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Cys310Tyr	rs747128213	missense variant	-	NC_000001.11:g.44879864C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Arg312Gln	rs776505832	missense variant	-	NC_000001.11:g.44879858C>T	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg312Ter	rs780075504	stop gained	-	NC_000001.11:g.44879859G>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Leu316Val	rs779299307	missense variant	-	NC_000001.11:g.44879847G>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Met320Val	rs757731187	missense variant	-	NC_000001.11:g.44879835T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Glu321Lys	rs576234757	missense variant	-	NC_000001.11:g.44879832C>T	1000Genomes,ExAC,gnomAD
EIF2B3	Q9NR50	p.Arg324Thr	rs1256799241	missense variant	-	NC_000001.11:g.44879822C>G	gnomAD
EIF2B3	Q9NR50	p.Gln325Arg	rs1027354839	missense variant	-	NC_000001.11:g.44879819T>C	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gln325Ter	rs1235790172	stop gained	-	NC_000001.11:g.44879820G>A	gnomAD
EIF2B3	Q9NR50	p.Val326Met	rs779245777	missense variant	-	NC_000001.11:g.44875695C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Pro327Ser	rs146286158	missense variant	-	NC_000001.11:g.44875692G>A	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Lys328Arg	rs138741202	missense variant	-	NC_000001.11:g.44875688T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ser331Cys	rs778184497	missense variant	-	NC_000001.11:g.44875679G>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ser331Pro	COSM910094	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44875680A>G	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Ser331Tyr	COSM3490180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44875679G>T	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Pro335Leu	rs1356359760	missense variant	-	NC_000001.11:g.44875667G>A	gnomAD
EIF2B3	Q9NR50	p.Glu337Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44875662C>G	NCI-TCGA
EIF2B3	Q9NR50	p.Pro338Ala	rs1244748635	missense variant	-	NC_000001.11:g.44875659G>C	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Pro338Ser	rs1244748635	missense variant	-	NC_000001.11:g.44875659G>A	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Pro338PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.44875649_44875659TGGACTGGTGG>-	NCI-TCGA
EIF2B3	Q9NR50	p.Val340Phe	rs1317571601	missense variant	-	NC_000001.11:g.44875653C>A	TOPMed,gnomAD
EIF2B3	Q9NR50	p.His341Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44875650G>A	NCI-TCGA
EIF2B3	Q9NR50	p.Ser342Leu	rs199638815	missense variant	-	NC_000001.11:g.44875646G>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ser342Trp	rs199638815	missense variant	-	NC_000001.11:g.44875646G>C	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ile346Thr	RCV000004690	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44875634A>G	ClinVar
EIF2B3	Q9NR50	p.Ile346Thr	rs119474039	missense variant	Leukoencephalopathy with vanishing white matter (vwm)	NC_000001.11:g.44875634A>G	-
EIF2B3	Q9NR50	p.Ile346Met	rs765959337	missense variant	-	NC_000001.11:g.44875633A>C	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Leu351Arg	rs1238242521	missense variant	-	NC_000001.11:g.44875619A>C	gnomAD
EIF2B3	Q9NR50	p.Gly353Val	rs149557497	missense variant	-	NC_000001.11:g.44874822C>A	ESP
EIF2B3	Q9NR50	p.Ile358Thr	rs1157528939	missense variant	-	NC_000001.11:g.44874807A>G	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ile358Val	rs1393610574	missense variant	-	NC_000001.11:g.44874808T>C	TOPMed
EIF2B3	Q9NR50	p.Gly359Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44874805C>T	NCI-TCGA
EIF2B3	Q9NR50	p.Thr362Ala	rs1326055214	missense variant	-	NC_000001.11:g.44874796T>C	TOPMed
EIF2B3	Q9NR50	p.Gln363Glu	rs1194628597	missense variant	-	NC_000001.11:g.44874793G>C	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gln363His	rs1478937608	missense variant	-	NC_000001.11:g.44874791C>G	gnomAD
EIF2B3	Q9NR50	p.Ile364Thr	rs949052759	missense variant	-	NC_000001.11:g.44874789A>G	TOPMed
EIF2B3	Q9NR50	p.Glu366Asp	rs150426784	missense variant	-	NC_000001.11:g.44874782C>A	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Glu366Lys	rs369175038	missense variant	-	NC_000001.11:g.44874784C>T	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ser369Phe	COSM910093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44874774G>A	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Ile370Val	rs763994002	missense variant	-	NC_000001.11:g.44874772T>C	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg372Cys	rs139247652	missense variant	-	NC_000001.11:g.44874766G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg372His	rs775556092	missense variant	-	NC_000001.11:g.44874765C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ser377Leu	rs774696817	missense variant	-	NC_000001.11:g.44874750G>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Cys379Ser	rs142651157	missense variant	-	NC_000001.11:g.44874744C>G	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Leu380Phe	rs749560754	missense variant	-	NC_000001.11:g.44874742G>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ile381Met	rs770256354	missense variant	-	NC_000001.11:g.44874737T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ile381Leu	rs773530595	missense variant	-	NC_000001.11:g.44874739T>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Ile381Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44874739T>C	NCI-TCGA
EIF2B3	Q9NR50	p.Lys382Glu	rs201613944	missense variant	-	NC_000001.11:g.44874736T>C	1000Genomes,gnomAD
EIF2B3	Q9NR50	p.Arg384Lys	rs143688644	missense variant	-	NC_000001.11:g.44874729C>T	1000Genomes,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Arg384Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44874730T>C	NCI-TCGA
EIF2B3	Q9NR50	p.Val385Leu	rs781679802	missense variant	-	NC_000001.11:g.44874727C>A	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Thr386Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44874723G>A	NCI-TCGA
EIF2B3	Q9NR50	p.Ile387Met	rs1478559597	missense variant	-	NC_000001.11:g.44874719A>C	gnomAD
EIF2B3	Q9NR50	p.Ile387Thr	rs755472775	missense variant	-	NC_000001.11:g.44874720A>G	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Thr388Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44874717G>A	NCI-TCGA
EIF2B3	Q9NR50	p.Asn389Ser	rs745323934	missense variant	-	NC_000001.11:g.44874714T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Asn389Asp	COSM4008453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44874715T>C	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Cys390Gly	rs778619398	missense variant	-	NC_000001.11:g.44874712A>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Leu392Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44874706G>A	NCI-TCGA
EIF2B3	Q9NR50	p.Met393Arg	rs985975888	missense variant	-	NC_000001.11:g.44874702A>C	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Thr397Ser	COSM6063435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44874690G>C	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Glu399Gln	COSM681192	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44874685C>G	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Gly401Arg	RCV000307262	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44874679C>T	ClinVar
EIF2B3	Q9NR50	p.Gly401Arg	rs886046359	missense variant	-	NC_000001.11:g.44874679C>T	-
EIF2B3	Q9NR50	p.Asn403Ser	rs770622953	missense variant	-	NC_000001.11:g.44857802T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gln405Glu	rs748821477	missense variant	-	NC_000001.11:g.44857797G>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly406Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44857793C>G	NCI-TCGA
EIF2B3	Q9NR50	p.Gly406Val	rs777419400	missense variant	-	NC_000001.11:g.44857793C>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Val408Ile	rs139902464	missense variant	-	NC_000001.11:g.44857788C>T	1000Genomes
EIF2B3	Q9NR50	p.Cys410Ser	rs201617348	missense variant	-	NC_000001.11:g.44857781C>G	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Asn412Ser	rs755755644	missense variant	-	NC_000001.11:g.44857775T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Asn412Asp	rs1160961620	missense variant	-	NC_000001.11:g.44857776T>C	gnomAD
EIF2B3	Q9NR50	p.Ala413Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.44857772G>T	NCI-TCGA
EIF2B3	Q9NR50	p.Ala413Ser	COSM6126630	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44857773C>A	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Ala413Val	rs902143849	missense variant	-	NC_000001.11:g.44857772G>A	TOPMed
EIF2B3	Q9NR50	p.Ile415Met	rs547795033	missense variant	-	NC_000001.11:g.44857765G>C	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ile415Val	rs1412362061	missense variant	-	NC_000001.11:g.44857767T>C	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Glu416Gly	rs754879236	missense variant	-	NC_000001.11:g.44857763T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Glu416Lys	rs529847913	missense variant	-	NC_000001.11:g.44857764C>T	1000Genomes,ExAC,gnomAD
EIF2B3	Q9NR50	p.Glu416Gln	rs529847913	missense variant	-	NC_000001.11:g.44857764C>G	1000Genomes,ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly418Arg	rs553737269	missense variant	-	NC_000001.11:g.44857758C>G	gnomAD
EIF2B3	Q9NR50	p.Gly418Val	rs1488491008	missense variant	-	NC_000001.11:g.44857757C>A	gnomAD
EIF2B3	Q9NR50	p.Gly418Cys	rs553737269	missense variant	-	NC_000001.11:g.44857758C>A	gnomAD
EIF2B3	Q9NR50	p.Ile421Val	rs751561316	missense variant	-	NC_000001.11:g.44857749T>C	ExAC,gnomAD
EIF2B3	Q9NR50	p.Leu425Trp	rs1289184955	missense variant	-	NC_000001.11:g.44857736A>C	gnomAD
EIF2B3	Q9NR50	p.Ile426Thr	rs762959486	missense variant	-	NC_000001.11:g.44857733A>G	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ser428Asn	rs750471493	missense variant	-	NC_000001.11:g.44857727C>T	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Gly429Arg	rs1376786416	missense variant	-	NC_000001.11:g.44857725C>G	gnomAD
EIF2B3	Q9NR50	p.Gln430Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.44857722G>A	NCI-TCGA
EIF2B3	Q9NR50	p.Gln430Arg	rs765453086	missense variant	-	NC_000001.11:g.44857721T>C	ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Ile432Thr	rs1341459099	missense variant	-	NC_000001.11:g.44857715A>G	gnomAD
EIF2B3	Q9NR50	p.Ile432Ser	COSM910092	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44857715A>C	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Ala436Ser	COSM1343020	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44857704C>A	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Ala436Val	rs754821944	missense variant	-	NC_000001.11:g.44851003G>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Arg438Ter	rs746817105	stop gained	-	NC_000001.11:g.44850998G>A	ExAC,gnomAD
EIF2B3	Q9NR50	p.Arg438Gln	rs779896143	missense variant	-	NC_000001.11:g.44850997C>T	ExAC,gnomAD
EIF2B3	Q9NR50	p.Val439Ala	rs1385199547	missense variant	-	NC_000001.11:g.44850994A>G	TOPMed
EIF2B3	Q9NR50	p.Val439Met	rs371253804	missense variant	-	NC_000001.11:g.44850995C>T	ESP,ExAC,gnomAD
EIF2B3	Q9NR50	p.Asn440Ser	RCV000312091	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44850991T>C	ClinVar
EIF2B3	Q9NR50	p.Asn440Ser	rs367765945	missense variant	-	NC_000001.11:g.44850991T>C	ESP,TOPMed
EIF2B3	Q9NR50	p.Glu441Asp	rs1465780150	missense variant	-	NC_000001.11:g.44850987C>G	gnomAD
EIF2B3	Q9NR50	p.Ile443Leu	rs1425351258	missense variant	-	NC_000001.11:g.44850983T>G	gnomAD
EIF2B3	Q9NR50	p.Val444Met	rs374466099	missense variant	-	NC_000001.11:g.44850980C>T	ESP,ExAC,TOPMed,gnomAD
EIF2B3	Q9NR50	p.Val444Ala	rs757501110	missense variant	-	NC_000001.11:g.44850979A>G	ExAC,gnomAD
EIF2B3	Q9NR50	p.Gly445Arg	rs1258382708	missense variant	-	NC_000001.11:g.44850977C>T	TOPMed,gnomAD
EIF2B3	Q9NR50	p.Asp447Asn	rs1267875305	missense variant	-	NC_000001.11:g.44850971C>T	gnomAD
EIF2B3	Q9NR50	p.Gln448His	COSM295454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44850966C>A	NCI-TCGA Cosmic
EIF2B3	Q9NR50	p.Met450Ile	rs1192795415	missense variant	-	NC_000001.11:g.44850960C>T	gnomAD
CYP26B1	Q9NR63	p.Leu2Phe	rs772564936	missense variant	-	NC_000002.12:g.72147831G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Leu2Pro	rs748697471	missense variant	-	NC_000002.12:g.72147830A>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Gly5Ser	rs1475382144	missense variant	-	NC_000002.12:g.72147822C>T	gnomAD
CYP26B1	Q9NR63	p.Leu6Ser	rs1240656554	missense variant	-	NC_000002.12:g.72147818A>G	gnomAD
CYP26B1	Q9NR63	p.Leu6Phe	rs1359174886	missense variant	-	NC_000002.12:g.72147817C>A	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asp7Glu	rs1266611031	missense variant	-	NC_000002.12:g.72147814A>C	TOPMed
CYP26B1	Q9NR63	p.Val9Leu	rs1442631634	missense variant	-	NC_000002.12:g.72147810C>A	gnomAD
CYP26B1	Q9NR63	p.Ser10Leu	rs1046197373	missense variant	-	NC_000002.12:g.72147806G>A	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala11Glu	rs1201201322	missense variant	-	NC_000002.12:g.72147803G>T	gnomAD
CYP26B1	Q9NR63	p.Thr14Ala	rs1265750812	missense variant	-	NC_000002.12:g.72147795T>C	TOPMed
CYP26B1	Q9NR63	p.Leu15Phe	rs748708560	missense variant	-	NC_000002.12:g.72147792G>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu15Ile	rs748708560	missense variant	-	NC_000002.12:g.72147792G>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala16Val	rs1359860328	missense variant	-	NC_000002.12:g.72147788G>A	gnomAD
CYP26B1	Q9NR63	p.Ala17Val	COSM1409336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72147785G>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Cys18Tyr	rs1448540640	missense variant	-	NC_000002.12:g.72147782C>T	gnomAD
CYP26B1	Q9NR63	p.Leu19Val	rs1336275912	missense variant	-	NC_000002.12:g.72147780G>C	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu19Pro	rs1341864609	missense variant	-	NC_000002.12:g.72147779A>G	gnomAD
CYP26B1	Q9NR63	p.Val20Ala	rs1468452722	missense variant	-	NC_000002.12:g.72147776A>G	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val22Leu	rs142156843	missense variant	-	NC_000002.12:g.72147771C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val22Met	rs142156843	missense variant	-	NC_000002.12:g.72147771C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu24Pro	rs780969490	missense variant	-	NC_000002.12:g.72147764A>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu32Gln	rs528065075	missense variant	-	NC_000002.12:g.72147740A>T	1000Genomes,ExAC
CYP26B1	Q9NR63	p.Gln34His	rs758321648	missense variant	-	NC_000002.12:g.72147733C>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu35Val	rs1203275112	missense variant	-	NC_000002.12:g.72147732G>C	gnomAD
CYP26B1	Q9NR63	p.Ala38Thr	rs1292003107	missense variant	-	NC_000002.12:g.72147723C>T	gnomAD
CYP26B1	Q9NR63	p.Ala39Thr	rs149453254	missense variant	-	NC_000002.12:g.72147720C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Thr40Ser	rs1312651128	missense variant	-	NC_000002.12:g.72147716G>C	gnomAD
CYP26B1	Q9NR63	p.Arg41Cys	rs955332130	missense variant	-	NC_000002.12:g.72147714G>A	gnomAD
CYP26B1	Q9NR63	p.Arg41His	rs768012386	missense variant	-	NC_000002.12:g.72147713C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg41Leu	rs768012386	missense variant	-	NC_000002.12:g.72147713C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Lys43Asn	rs895342787	missense variant	-	NC_000002.12:g.72147706C>G	TOPMed
CYP26B1	Q9NR63	p.Ser44Asn	rs1298813119	missense variant	-	NC_000002.12:g.72147704C>T	gnomAD
CYP26B1	Q9NR63	p.Cys45Phe	rs1461579414	missense variant	-	NC_000002.12:g.72147701C>A	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu47Met	rs530591207	missense variant	-	NC_000002.12:g.72147696G>T	1000Genomes,gnomAD
CYP26B1	Q9NR63	p.Pro48His	rs1167463662	missense variant	-	NC_000002.12:g.72147692G>T	gnomAD
CYP26B1	Q9NR63	p.Ile49Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72147689A>G	NCI-TCGA
CYP26B1	Q9NR63	p.Ser53Cys	rs1482058078	missense variant	-	NC_000002.12:g.72147677G>C	TOPMed
CYP26B1	Q9NR63	p.Gly55Val	COSM4939365	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72147671C>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Phe56Val	rs1162132081	missense variant	-	NC_000002.12:g.72147669A>C	gnomAD
CYP26B1	Q9NR63	p.Ile59Val	rs1441157335	missense variant	-	NC_000002.12:g.72147660T>C	gnomAD
CYP26B1	Q9NR63	p.Glu61Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72147654C>T	NCI-TCGA
CYP26B1	Q9NR63	p.Gly63Val	rs373873010	missense variant	-	NC_000002.12:g.72147647C>A	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly63Ala	rs373873010	missense variant	-	NC_000002.12:g.72147647C>G	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly63Ser	rs1439031664	missense variant	-	NC_000002.12:g.72147648C>T	TOPMed
CYP26B1	Q9NR63	p.His64Tyr	rs745532282	missense variant	-	NC_000002.12:g.72147645G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.His64Arg	VAR_075982	Missense	-	-	UniProt
CYP26B1	Q9NR63	p.Leu67Met	rs372471569	missense variant	-	NC_000002.12:g.72147636G>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gln68His	rs1242136457	missense variant	-	NC_000002.12:g.72147631C>A	gnomAD
CYP26B1	Q9NR63	p.Gly71Ser	rs1310941300	missense variant	-	NC_000002.12:g.72144207C>T	gnomAD
CYP26B1	Q9NR63	p.Gly71Asp	rs1273653112	missense variant	-	NC_000002.12:g.72144206C>T	TOPMed
CYP26B1	Q9NR63	p.Gln73His	rs1334593497	missense variant	-	NC_000002.12:g.72144199C>G	gnomAD
CYP26B1	Q9NR63	p.Gln73His	rs1334593497	missense variant	-	NC_000002.12:g.72144199C>A	gnomAD
CYP26B1	Q9NR63	p.Ser75Leu	rs1326299188	missense variant	-	NC_000002.12:g.72144194G>A	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg76Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72144192G>A	NCI-TCGA
CYP26B1	Q9NR63	p.Arg77Met	COSM6158932	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144188C>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Glu78Gly	rs778007886	missense variant	-	NC_000002.12:g.72144185T>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu78Asp	rs758517680	missense variant	-	NC_000002.12:g.72144184C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Lys79Gln	rs1188222938	missense variant	-	NC_000002.12:g.72144183T>G	TOPMed
CYP26B1	Q9NR63	p.Asn82His	rs765571536	missense variant	-	NC_000002.12:g.72144174T>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asn82Thr	rs760099961	missense variant	-	NC_000002.12:g.72144173T>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val83Leu	rs1390650106	missense variant	-	NC_000002.12:g.72144171C>G	TOPMed
CYP26B1	Q9NR63	p.Leu89Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72144153A>C	NCI-TCGA
CYP26B1	Q9NR63	p.Gly90Ala	rs760184136	missense variant	-	NC_000002.12:g.72144149C>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg91Gln	rs1270302167	missense variant	-	NC_000002.12:g.72144146C>T	gnomAD
CYP26B1	Q9NR63	p.Arg91Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72144146C>G	NCI-TCGA
CYP26B1	Q9NR63	p.Pro92Ala	rs767244001	missense variant	-	NC_000002.12:g.72144144G>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg95Gly	rs1286793044	missense variant	-	NC_000002.12:g.72144135G>C	gnomAD
CYP26B1	Q9NR63	p.Gly98Val	COSM117004	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144125C>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Gly98Ser	rs774348620	missense variant	-	NC_000002.12:g.72144126C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Ala99Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72144123C>T	NCI-TCGA
CYP26B1	Q9NR63	p.Ala99Ser	rs749249065	missense variant	-	NC_000002.12:g.72144123C>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Glu100Lys	COSM1306976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144120C>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Glu100Gly	rs1282504686	missense variant	-	NC_000002.12:g.72144119T>C	gnomAD
CYP26B1	Q9NR63	p.Glu100Asp	rs770942832	missense variant	-	NC_000002.12:g.72144118C>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Val102Leu	rs778764988	missense variant	-	NC_000002.12:g.72144114C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg103Cys	COSM1022703	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144111G>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Arg103His	rs746333166	missense variant	-	NC_000002.12:g.72144110C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Met107Val	rs779252042	missense variant	-	NC_000002.12:g.72144099T>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.His110Tyr	rs570971801	missense variant	-	NC_000002.12:g.72144090G>A	1000Genomes,ExAC,gnomAD
CYP26B1	Q9NR63	p.His110Asp	rs570971801	missense variant	-	NC_000002.12:g.72144090G>C	1000Genomes,ExAC,gnomAD
CYP26B1	Q9NR63	p.His111Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72144086T>C	NCI-TCGA
CYP26B1	Q9NR63	p.Leu112Phe	rs1217039507	missense variant	-	NC_000002.12:g.72144084G>A	gnomAD
CYP26B1	Q9NR63	p.Thr115Ile	rs1281765906	missense variant	-	NC_000002.12:g.72144074G>A	gnomAD
CYP26B1	Q9NR63	p.Thr115Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72144075T>C	NCI-TCGA
CYP26B1	Q9NR63	p.Glu116Ter	COSM443179	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.72144072C>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Arg119His	rs138734968	missense variant	-	NC_000002.12:g.72144062C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg119Gly	COSM6092389	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72144063G>C	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Arg119Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72144063G>A	NCI-TCGA
CYP26B1	Q9NR63	p.Arg119Pro	rs138734968	missense variant	-	NC_000002.12:g.72144062C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Thr121Ile	rs766925918	missense variant	-	NC_000002.12:g.72144056G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Met123Thr	rs774086470	missense variant	-	NC_000002.12:g.72144050A>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Met123Val	rs761628022	missense variant	-	NC_000002.12:g.72144051T>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Met123Lys	rs774086470	missense variant	-	NC_000002.12:g.72144050A>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro127Ser	rs764000669	missense variant	-	NC_000002.12:g.72144039G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Val130Leu	rs762792792	missense variant	-	NC_000002.12:g.72144030C>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Asn132His	rs1474253732	missense variant	-	NC_000002.12:g.72144024T>G	TOPMed
CYP26B1	Q9NR63	p.Asn132Ser	rs369946891	missense variant	-	NC_000002.12:g.72144023T>C	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ile134Thr	rs1419156117	missense variant	-	NC_000002.12:g.72144017A>G	TOPMed
CYP26B1	Q9NR63	p.Asp136Glu	rs1023420049	missense variant	-	NC_000002.12:g.72144010G>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg139Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72144002C>G	NCI-TCGA
CYP26B1	Q9NR63	p.Arg139His	rs1406849985	missense variant	-	NC_000002.12:g.72144002C>T	gnomAD
CYP26B1	Q9NR63	p.Asn140Lys	rs772070692	missense variant	-	NC_000002.12:g.72143998G>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asn140Ile	rs200324765	missense variant	-	NC_000002.12:g.72143999T>A	1000Genomes,ExAC,gnomAD
CYP26B1	Q9NR63	p.Lys141Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72143997T>C	NCI-TCGA
CYP26B1	Q9NR63	p.Lys143Thr	rs779059419	missense variant	-	NC_000002.12:g.72143990T>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Lys143Arg	rs779059419	missense variant	-	NC_000002.12:g.72143990T>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Lys143Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72143989C>A	NCI-TCGA
CYP26B1	Q9NR63	p.Val144Phe	rs1385026392	missense variant	-	NC_000002.12:g.72135419C>A	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ser146Pro	RCV000059691	missense variant	-	NC_000002.12:g.72135413A>G	ClinVar
CYP26B1	Q9NR63	p.Ser146Pro	rs281875232	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72135413A>G	UniProt,dbSNP
CYP26B1	Q9NR63	p.Ser146Pro	VAR_067923	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72135413A>G	UniProt
CYP26B1	Q9NR63	p.Lys147Asn	rs1162185065	missense variant	-	NC_000002.12:g.72135408C>G	gnomAD
CYP26B1	Q9NR63	p.His151Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72135398G>A	NCI-TCGA
CYP26B1	Q9NR63	p.Glu152Lys	rs143622603	missense variant	-	NC_000002.12:g.72135395C>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala153Pro	rs777408706	missense variant	-	NC_000002.12:g.72135392C>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala153Ser	rs777408706	missense variant	-	NC_000002.12:g.72135392C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala153Thr	rs777408706	missense variant	-	NC_000002.12:g.72135392C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu154Val	rs1160154460	missense variant	-	NC_000002.12:g.72135389G>C	TOPMed
CYP26B1	Q9NR63	p.Glu155Asp	rs752223643	missense variant	-	NC_000002.12:g.72135384C>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Glu155Lys	rs758135535	missense variant	-	NC_000002.12:g.72135386C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Glu155Asp	rs752223643	missense variant	-	NC_000002.12:g.72135384C>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Ser156Gly	rs572989034	missense variant	-	NC_000002.12:g.72135383T>C	1000Genomes,ExAC,gnomAD
CYP26B1	Q9NR63	p.Ser156Ile	rs759204214	missense variant	-	NC_000002.12:g.72135382C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro159Leu	rs760584093	missense variant	-	NC_000002.12:g.72135373G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Lys160Arg	rs774475846	missense variant	-	NC_000002.12:g.72135370T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Lys160Glu	rs1285688525	missense variant	-	NC_000002.12:g.72135371T>C	gnomAD
CYP26B1	Q9NR63	p.Gln162Arg	rs768721885	missense variant	-	NC_000002.12:g.72135364T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Ile165Thr	rs1157706433	missense variant	-	NC_000002.12:g.72135355A>G	gnomAD
CYP26B1	Q9NR63	p.Ile165Val	rs1345462166	missense variant	-	NC_000002.12:g.72135356T>C	gnomAD
CYP26B1	Q9NR63	p.Arg170Gly	rs770223566	missense variant	-	NC_000002.12:g.72135341G>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg170His	rs371218756	missense variant	-	NC_000002.12:g.72135340C>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg170Cys	rs770223566	missense variant	-	NC_000002.12:g.72135341G>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg170Pro	rs371218756	missense variant	-	NC_000002.12:g.72135340C>G	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala171Thr	rs377118511	missense variant	-	NC_000002.12:g.72135338C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala171Ser	rs377118511	missense variant	-	NC_000002.12:g.72135338C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ser173Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72135331C>A	NCI-TCGA
CYP26B1	Q9NR63	p.Ser174Asn	rs1261578626	missense variant	-	NC_000002.12:g.72135328C>T	gnomAD
CYP26B1	Q9NR63	p.His175Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72135326G>C	NCI-TCGA
CYP26B1	Q9NR63	p.His175Tyr	rs1280740370	missense variant	-	NC_000002.12:g.72135326G>A	TOPMed
CYP26B1	Q9NR63	p.His175Gln	rs757787561	missense variant	-	NC_000002.12:g.72135324G>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro176Leu	rs140577367	missense variant	-	NC_000002.12:g.72135322G>A	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu177ArgPheSerTerUnkUnk	COSM5224682	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.72135321G>-	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Glu177Lys	rs201533354	missense variant	-	NC_000002.12:g.72135320C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala178Val	rs1299608933	missense variant	-	NC_000002.12:g.72135316G>A	gnomAD
CYP26B1	Q9NR63	p.Ala178Thr	rs753682172	missense variant	-	NC_000002.12:g.72135317C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Asn180His	rs924427311	missense variant	-	NC_000002.12:g.72135311T>G	TOPMed
CYP26B1	Q9NR63	p.Asn180Ser	rs201603348	missense variant	-	NC_000002.12:g.72135310T>C	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val181Met	rs142999899	missense variant	-	NC_000002.12:g.72135308C>T	UniProt,dbSNP
CYP26B1	Q9NR63	p.Val181Met	VAR_038722	missense variant	-	NC_000002.12:g.72135308C>T	UniProt
CYP26B1	Q9NR63	p.Val181Met	rs142999899	missense variant	-	NC_000002.12:g.72135308C>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gln183His	rs142707455	missense variant	-	NC_000002.12:g.72135300C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gln183Glu	rs1407577896	missense variant	-	NC_000002.12:g.72135302G>C	gnomAD
CYP26B1	Q9NR63	p.Gln183Arg	rs1426591266	missense variant	-	NC_000002.12:g.72135301T>C	TOPMed
CYP26B1	Q9NR63	p.Glu184Lys	rs1469224066	missense variant	-	NC_000002.12:g.72135299C>T	gnomAD
CYP26B1	Q9NR63	p.Ala185Val	rs765423228	missense variant	-	NC_000002.12:g.72135295G>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gln186Arg	rs1447524545	missense variant	-	NC_000002.12:g.72135292T>C	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Lys187Met	rs777202035	missense variant	-	NC_000002.12:g.72135289T>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg191Cys	rs200044057	missense variant	-	NC_000002.12:g.72135278G>A	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg191His	rs76025186	missense variant	-	NC_000002.12:g.72135277C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg191His	rs76025186	missense variant	-	NC_000002.12:g.72135277C>T	UniProt,dbSNP
CYP26B1	Q9NR63	p.Arg191His	VAR_038724	missense variant	-	NC_000002.12:g.72135277C>T	UniProt
CYP26B1	Q9NR63	p.Arg191Leu	rs76025186	missense variant	-	NC_000002.12:g.72135277C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Met192Val	COSM1022700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72135275T>C	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Met192Thr	rs773804911	missense variant	-	NC_000002.12:g.72135274A>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Ala193Thr	rs771644483	missense variant	-	NC_000002.12:g.72135272C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ile194Phe	rs150376229	missense variant	-	NC_000002.12:g.72135269T>A	ESP,ExAC,gnomAD
CYP26B1	Q9NR63	p.Ile194Val	rs150376229	missense variant	-	NC_000002.12:g.72135269T>C	ESP,ExAC,gnomAD
CYP26B1	Q9NR63	p.Ile194Asn	rs778463797	missense variant	-	NC_000002.12:g.72135268A>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg195Trp	rs754646653	missense variant	-	NC_000002.12:g.72135266G>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg195Gln	rs748938965	missense variant	-	NC_000002.12:g.72135265C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Leu197Met	rs779832742	missense variant	-	NC_000002.12:g.72135260G>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly199Ser	rs755847410	missense variant	-	NC_000002.12:g.72135254C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Phe200Ile	rs185325941	missense variant	-	NC_000002.12:g.72135251A>T	1000Genomes,ExAC,gnomAD
CYP26B1	Q9NR63	p.Phe200Leu	rs185325941	missense variant	-	NC_000002.12:g.72135251A>G	1000Genomes,ExAC,gnomAD
CYP26B1	Q9NR63	p.Ser201Gly	rs767391790	missense variant	-	NC_000002.12:g.72135248T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Ile202Thr	rs1299771815	missense variant	-	NC_000002.12:g.72135244A>G	gnomAD
CYP26B1	Q9NR63	p.Ile202Val	rs148276322	missense variant	-	NC_000002.12:g.72135245T>C	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro203Ser	rs142987158	missense variant	-	NC_000002.12:g.72135242G>A	-
CYP26B1	Q9NR63	p.Pro203Arg	rs1004249752	missense variant	-	NC_000002.12:g.72135241G>C	gnomAD
CYP26B1	Q9NR63	p.Glu204Asp	rs1166557952	missense variant	-	NC_000002.12:g.72135237C>G	gnomAD
CYP26B1	Q9NR63	p.Asp206Asn	rs759841282	missense variant	-	NC_000002.12:g.72135233C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Leu207Val	rs1267031669	missense variant	-	NC_000002.12:g.72135230G>C	TOPMed
CYP26B1	Q9NR63	p.Gly208Arg	rs373209334	missense variant	-	NC_000002.12:g.72135227C>T	ESP,TOPMed,gnomAD
CYP26B1	Q9NR63	p.His209Asp	rs140538900	missense variant	-	NC_000002.12:g.72135224G>C	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu210Phe	rs1441876570	missense variant	-	NC_000002.12:g.72135221G>A	gnomAD
CYP26B1	Q9NR63	p.Glu212Asp	rs766871295	missense variant	-	NC_000002.12:g.72135213C>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Tyr214His	rs1481279059	missense variant	-	NC_000002.12:g.72135209A>G	gnomAD
CYP26B1	Q9NR63	p.Val218Ala	rs1226698742	missense variant	-	NC_000002.12:g.72135196A>G	gnomAD
CYP26B1	Q9NR63	p.Val218Met	rs1274364128	missense variant	-	NC_000002.12:g.72135197C>T	gnomAD
CYP26B1	Q9NR63	p.Val218Leu	rs1274364128	missense variant	-	NC_000002.12:g.72135197C>G	gnomAD
CYP26B1	Q9NR63	p.Asp219Gly	rs773597135	missense variant	-	NC_000002.12:g.72135193T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Asn220Ser	rs1315247334	missense variant	-	NC_000002.12:g.72135190T>C	gnomAD
CYP26B1	Q9NR63	p.Val221Ile	rs748675065	missense variant	-	NC_000002.12:g.72135188C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Asp227His	rs143738797	missense variant	-	NC_000002.12:g.72135170C>G	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asp227Asn	rs143738797	missense variant	-	NC_000002.12:g.72135170C>T	UniProt,dbSNP
CYP26B1	Q9NR63	p.Asp227Asn	VAR_038725	missense variant	-	NC_000002.12:g.72135170C>T	UniProt
CYP26B1	Q9NR63	p.Asp227Asn	rs143738797	missense variant	-	NC_000002.12:g.72135170C>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu228Met	rs779635850	missense variant	-	NC_000002.12:g.72135167G>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu228Val	rs779635850	missense variant	-	NC_000002.12:g.72135167G>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu228Pro	rs1426264965	missense variant	-	NC_000002.12:g.72135166A>G	gnomAD
CYP26B1	Q9NR63	p.Ser231Gly	rs745709853	missense variant	-	NC_000002.12:g.72135158T>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ser231Cys	rs745709853	missense variant	-	NC_000002.12:g.72135158T>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Tyr233Ter	rs781024081	stop gained	-	NC_000002.12:g.72135150G>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg234Gln	rs757205343	missense variant	-	NC_000002.12:g.72135148C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg234Trp	rs1057421828	missense variant	-	NC_000002.12:g.72135149G>A	TOPMed
CYP26B1	Q9NR63	p.Arg235Trp	rs751447267	missense variant	-	NC_000002.12:g.72135146G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg235Gln	rs267599444	missense variant	-	NC_000002.12:g.72135145C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg235Leu	rs267599444	missense variant	-	NC_000002.12:g.72135145C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gln238Glu	COSM3839962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134910G>C	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Ala239Thr	rs1471226375	missense variant	-	NC_000002.12:g.72134907C>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala239Val	rs758378592	missense variant	-	NC_000002.12:g.72134906G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg240Trp	rs1359914942	missense variant	-	NC_000002.12:g.72134904G>A	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg240Gln	rs754021915	missense variant	-	NC_000002.12:g.72134903C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg240Gly	rs1359914942	missense variant	-	NC_000002.12:g.72134904G>C	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gln241His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72134899C>A	NCI-TCGA
CYP26B1	Q9NR63	p.Gln241His	rs1244199121	missense variant	-	NC_000002.12:g.72134899C>G	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gln244Arg	rs750593083	missense variant	-	NC_000002.12:g.72134891T>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly246Arg	COSM477621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134886C>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Leu247Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72134882A>G	NCI-TCGA
CYP26B1	Q9NR63	p.Glu248Lys	COSM3583079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134880C>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Lys249Arg	rs1176524111	missense variant	-	NC_000002.12:g.72134876T>C	TOPMed
CYP26B1	Q9NR63	p.Lys249Ter	COSM6158934	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.72134877T>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Arg252Leu	rs767790315	missense variant	-	NC_000002.12:g.72134867C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg252Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72134868G>A	NCI-TCGA
CYP26B1	Q9NR63	p.Arg252Gly	rs1277769076	missense variant	-	NC_000002.12:g.72134868G>C	gnomAD
CYP26B1	Q9NR63	p.Arg252Gln	rs767790315	missense variant	-	NC_000002.12:g.72134867C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu253Asp	COSM3426652	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134863C>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Lys254Asn	rs1419822447	missense variant	-	NC_000002.12:g.72134860C>A	TOPMed
CYP26B1	Q9NR63	p.Thr258Pro	rs764629575	missense variant	-	NC_000002.12:g.72134850T>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Gln259Arg	rs1376047912	missense variant	-	NC_000002.12:g.72134846T>C	TOPMed
CYP26B1	Q9NR63	p.Gln259Leu	COSM6158935	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134846T>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Gly260Ala	rs1052765092	missense variant	-	NC_000002.12:g.72134843C>G	TOPMed
CYP26B1	Q9NR63	p.Tyr263Phe	rs1359853659	missense variant	-	NC_000002.12:g.72134834T>A	gnomAD
CYP26B1	Q9NR63	p.Tyr263His	rs934693080	missense variant	-	NC_000002.12:g.72134835A>G	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu264Ser	rs2241057	missense variant	-	NC_000002.12:g.72134831A>G	UniProt,dbSNP
CYP26B1	Q9NR63	p.Leu264Ser	VAR_024383	missense variant	-	NC_000002.12:g.72134831A>G	UniProt
CYP26B1	Q9NR63	p.Leu264Ser	rs2241057	missense variant	-	NC_000002.12:g.72134831A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asp265Tyr	rs1375116681	missense variant	-	NC_000002.12:g.72134829C>A	TOPMed
CYP26B1	Q9NR63	p.Ala266Thr	rs1448467960	missense variant	-	NC_000002.12:g.72134826C>T	gnomAD
CYP26B1	Q9NR63	p.Leu269Val	rs373199495	missense variant	-	NC_000002.12:g.72134817G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ile271Thr	rs776297916	missense variant	-	NC_000002.12:g.72134810A>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Glu272Asp	rs1411170408	missense variant	-	NC_000002.12:g.72134806C>G	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu272Gln	rs552735673	missense variant	-	NC_000002.12:g.72134808C>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Glu272Asp	rs1411170408	missense variant	-	NC_000002.12:g.72134806C>A	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu272Lys	rs552735673	missense variant	-	NC_000002.12:g.72134808C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Glu272Gly	rs1224811488	missense variant	-	NC_000002.12:g.72134807T>C	TOPMed
CYP26B1	Q9NR63	p.Ser274Asn	rs933042559	missense variant	-	NC_000002.12:g.72134801C>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Lys275Glu	rs746859688	missense variant	-	NC_000002.12:g.72134799T>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu276Lys	rs761872556	missense variant	-	NC_000002.12:g.72134796C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu276Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72134795T>C	NCI-TCGA
CYP26B1	Q9NR63	p.Glu276Asp	rs772196527	missense variant	-	NC_000002.12:g.72134794C>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.His277Tyr	rs752687829	missense variant	-	NC_000002.12:g.72134793G>A	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly278Arg	rs371681434	missense variant	-	NC_000002.12:g.72134790C>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu280Lys	COSM721890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72134784C>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Met281Ile	rs1379914621	missense variant	-	NC_000002.12:g.72134779C>T	gnomAD
CYP26B1	Q9NR63	p.Met283Val	rs557070285	missense variant	-	NC_000002.12:g.72134775T>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Met283Thr	rs141708899	missense variant	-	NC_000002.12:g.72134774A>G	ESP,TOPMed
CYP26B1	Q9NR63	p.Gln284Pro	rs541667058	missense variant	-	NC_000002.12:g.72134771T>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu286Pro	rs757392647	missense variant	-	NC_000002.12:g.72134765A>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asp288Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133306T>C	NCI-TCGA
CYP26B1	Q9NR63	p.Asp288Asn	rs1285546852	missense variant	-	NC_000002.12:g.72133307C>T	gnomAD
CYP26B1	Q9NR63	p.Gly289Arg	COSM6158559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72133304C>G	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Gly289Arg	rs746004639	missense variant	-	NC_000002.12:g.72133304C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala296Val	rs747164535	missense variant	-	NC_000002.12:g.72133282G>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala297Thr	rs1431421956	missense variant	-	NC_000002.12:g.72133280C>T	gnomAD
CYP26B1	Q9NR63	p.Tyr298Cys	rs758711951	missense variant	-	NC_000002.12:g.72133276T>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala299Thr	rs1432342083	missense variant	-	NC_000002.12:g.72133274C>T	gnomAD
CYP26B1	Q9NR63	p.Thr300Ser	rs1297894846	missense variant	-	NC_000002.12:g.72133270G>C	TOPMed
CYP26B1	Q9NR63	p.Thr301Met	rs765773815	missense variant	-	NC_000002.12:g.72133267G>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ser303Asn	rs1208231104	missense variant	-	NC_000002.12:g.72133261C>T	gnomAD
CYP26B1	Q9NR63	p.Ala304Thr	rs1265502262	missense variant	-	NC_000002.12:g.72133259C>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ile309Val	rs1365530352	missense variant	-	NC_000002.12:g.72133244T>C	gnomAD
CYP26B1	Q9NR63	p.Met310Thr	rs767445909	missense variant	-	NC_000002.12:g.72133240A>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Leu312Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133234A>G	NCI-TCGA
CYP26B1	Q9NR63	p.His315Tyr	rs1375704133	missense variant	-	NC_000002.12:g.72133226G>A	gnomAD
CYP26B1	Q9NR63	p.Pro316Ala	rs760927777	missense variant	-	NC_000002.12:g.72133223G>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro316Thr	rs760927777	missense variant	-	NC_000002.12:g.72133223G>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro316Ser	rs760927777	missense variant	-	NC_000002.12:g.72133223G>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Thr317Ser	rs749174580	missense variant	-	NC_000002.12:g.72133220T>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Glu320Asp	rs1201516045	missense variant	-	NC_000002.12:g.72133209C>A	gnomAD
CYP26B1	Q9NR63	p.Lys321Thr	rs144989898	missense variant	-	NC_000002.12:g.72133207T>G	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu322Met	COSM1483243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72133205G>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Arg323Trp	rs138478634	missense variant	-	NC_000002.12:g.72133202G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg323Gln	rs534997827	missense variant	-	NC_000002.12:g.72133201C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg327Gln	rs200922951	missense variant	-	NC_000002.12:g.72133189C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg327Trp	rs199909218	missense variant	-	NC_000002.12:g.72133190G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg327Pro	rs200922951	missense variant	-	NC_000002.12:g.72133189C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.His329Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133184G>C	NCI-TCGA
CYP26B1	Q9NR63	p.His329Tyr	rs755576009	missense variant	-	NC_000002.12:g.72133184G>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.His329Arg	rs1384286104	missense variant	-	NC_000002.12:g.72133183T>C	gnomAD
CYP26B1	Q9NR63	p.Gly330Asp	rs377154115	missense variant	-	NC_000002.12:g.72133180C>T	ESP,ExAC,gnomAD
CYP26B1	Q9NR63	p.Ile331Val	rs755637788	missense variant	-	NC_000002.12:g.72133178T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Gly335Asp	rs767321192	missense variant	-	NC_000002.12:g.72133165C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Gly336Ser	rs199651471	missense variant	-	NC_000002.12:g.72133163C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly336Asp	rs1447953731	missense variant	-	NC_000002.12:g.72133162C>T	gnomAD
CYP26B1	Q9NR63	p.Cys337Arg	rs1370266777	missense variant	-	NC_000002.12:g.72133160A>G	gnomAD
CYP26B1	Q9NR63	p.Cys337Tyr	rs763726637	missense variant	-	NC_000002.12:g.72133159C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Cys337Trp	rs1487384277	missense variant	-	NC_000002.12:g.72133158G>C	gnomAD
CYP26B1	Q9NR63	p.Pro338Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133157G>A	NCI-TCGA
CYP26B1	Q9NR63	p.Pro338Leu	rs1423723905	missense variant	-	NC_000002.12:g.72133156G>A	gnomAD
CYP26B1	Q9NR63	p.Cys339Arg	rs985992581	missense variant	-	NC_000002.12:g.72133154A>G	gnomAD
CYP26B1	Q9NR63	p.Glu340Lys	rs368459555	missense variant	-	NC_000002.12:g.72133151C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly341Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133148C>A	NCI-TCGA
CYP26B1	Q9NR63	p.Leu343Pro	rs990699984	missense variant	-	NC_000002.12:g.72133141A>G	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg344Cys	rs144968323	missense variant	-	NC_000002.12:g.72133139G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg344His	rs772338043	missense variant	-	NC_000002.12:g.72133138C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg344Leu	rs772338043	missense variant	-	NC_000002.12:g.72133138C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg344Pro	rs772338043	missense variant	-	NC_000002.12:g.72133138C>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu345Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133135A>G	NCI-TCGA
CYP26B1	Q9NR63	p.Asp346Gly	rs779339631	missense variant	-	NC_000002.12:g.72133132T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Thr347Met	rs200556766	missense variant	-	NC_000002.12:g.72133129G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Thr347Ala	rs542224246	missense variant	-	NC_000002.12:g.72133130T>C	1000Genomes,ExAC,gnomAD
CYP26B1	Q9NR63	p.Gly350Glu	COSM6158562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72133120C>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Gly350Trp	rs750006908	missense variant	-	NC_000002.12:g.72133121C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu351Pro	rs1393213444	missense variant	-	NC_000002.12:g.72133117A>G	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg352Cys	rs780839308	missense variant	-	NC_000002.12:g.72133115G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg352His	rs756970139	missense variant	-	NC_000002.12:g.72133114C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg352Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133115G>T	NCI-TCGA
CYP26B1	Q9NR63	p.Arg352Leu	rs756970139	missense variant	-	NC_000002.12:g.72133114C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Tyr353Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133111T>A	NCI-TCGA
CYP26B1	Q9NR63	p.Leu354Val	rs751110755	missense variant	-	NC_000002.12:g.72133109G>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Val357Ile	rs541205721	missense variant	-	NC_000002.12:g.72133100C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val357Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133099A>T	NCI-TCGA
CYP26B1	Q9NR63	p.Val357Leu	rs541205721	missense variant	-	NC_000002.12:g.72133100C>G	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val357Ala	rs957694884	missense variant	-	NC_000002.12:g.72133099A>G	TOPMed
CYP26B1	Q9NR63	p.Ile358Val	rs1402394919	missense variant	-	NC_000002.12:g.72133097T>C	TOPMed
CYP26B1	Q9NR63	p.Met362Val	rs759456027	missense variant	-	NC_000002.12:g.72133085T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Met362Ile	rs368295866	missense variant	-	NC_000002.12:g.72133083C>T	ESP,TOPMed
CYP26B1	Q9NR63	p.Arg363Leu	RCV000023400	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72133081C>A	ClinVar
CYP26B1	Q9NR63	p.Arg363His	RCV000498598	missense variant	-	NC_000002.12:g.72133081C>T	ClinVar
CYP26B1	Q9NR63	p.Arg363Leu	rs281875231	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72133081C>A	UniProt,dbSNP
CYP26B1	Q9NR63	p.Arg363Leu	VAR_067924	missense variant	Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)	NC_000002.12:g.72133081C>A	UniProt
CYP26B1	Q9NR63	p.Arg363Cys	rs1452952788	missense variant	-	NC_000002.12:g.72133082G>A	gnomAD
CYP26B1	Q9NR63	p.Arg363His	rs281875231	missense variant	-	NC_000002.12:g.72133081C>T	-
CYP26B1	Q9NR63	p.Leu364Met	COSM1409331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72133079G>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Phe365Leu	rs1208901871	missense variant	-	NC_000002.12:g.72133076A>G	gnomAD
CYP26B1	Q9NR63	p.Phe365Cys	rs1304178112	missense variant	-	NC_000002.12:g.72133075A>C	TOPMed
CYP26B1	Q9NR63	p.Thr366Ala	rs375893162	missense variant	-	NC_000002.12:g.72133073T>C	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly370Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133061C>A	NCI-TCGA
CYP26B1	Q9NR63	p.Gly370Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133060C>T	NCI-TCGA
CYP26B1	Q9NR63	p.Gly371Ser	rs1286205679	missense variant	-	NC_000002.12:g.72133058C>T	gnomAD
CYP26B1	Q9NR63	p.Arg373His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133051C>T	NCI-TCGA
CYP26B1	Q9NR63	p.Arg373Cys	rs1406495401	missense variant	-	NC_000002.12:g.72133052G>A	gnomAD
CYP26B1	Q9NR63	p.Thr374Ile	rs1463081010	missense variant	-	NC_000002.12:g.72133048G>A	gnomAD
CYP26B1	Q9NR63	p.Thr374Ala	rs769098244	missense variant	-	NC_000002.12:g.72133049T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Val375Met	rs1324374595	missense variant	-	NC_000002.12:g.72133046C>T	gnomAD
CYP26B1	Q9NR63	p.Val375Ala	rs1386433873	missense variant	-	NC_000002.12:g.72133045A>G	gnomAD
CYP26B1	Q9NR63	p.Gln377His	rs141249406	missense variant	-	NC_000002.12:g.72133038C>G	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu380Lys	rs2286965	missense variant	-	NC_000002.12:g.72133031C>T	UniProt,dbSNP
CYP26B1	Q9NR63	p.Glu380Lys	VAR_038726	missense variant	-	NC_000002.12:g.72133031C>T	UniProt
CYP26B1	Q9NR63	p.Glu380Lys	rs2286965	missense variant	-	NC_000002.12:g.72133031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asp382His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72133025C>G	NCI-TCGA
CYP26B1	Q9NR63	p.Gly383Asp	rs772601509	missense variant	-	NC_000002.12:g.72132618C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Gln385His	COSM1022699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132611C>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Ile386Thr	rs771554128	missense variant	-	NC_000002.12:g.72132609A>G	ExAC
CYP26B1	Q9NR63	p.Lys388Arg	rs768269439	missense variant	-	NC_000002.12:g.72132603T>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Lys388Glu	COSM6091962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132604T>C	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Trp390Ter	rs1403516041	stop gained	-	NC_000002.12:g.72132597C>T	TOPMed
CYP26B1	Q9NR63	p.Ser391Gly	rs1277024771	missense variant	-	NC_000002.12:g.72132595T>C	TOPMed
CYP26B1	Q9NR63	p.Ser391GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.72132595_72132596insC	NCI-TCGA
CYP26B1	Q9NR63	p.Ser391Asn	rs749134025	missense variant	-	NC_000002.12:g.72132594C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Val392Ile	rs1346113905	missense variant	-	NC_000002.12:g.72132592C>T	TOPMed
CYP26B1	Q9NR63	p.Met393Ile	rs1341772264	missense variant	-	NC_000002.12:g.72132587C>G	gnomAD
CYP26B1	Q9NR63	p.Met393Leu	rs1206134664	missense variant	-	NC_000002.12:g.72132589T>G	gnomAD
CYP26B1	Q9NR63	p.Arg397Gln	rs756077143	missense variant	-	NC_000002.12:g.72132576C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg397Trp	rs779814291	missense variant	-	NC_000002.12:g.72132577G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg397Gln	RCV000498080	missense variant	-	NC_000002.12:g.72132576C>T	ClinVar
CYP26B1	Q9NR63	p.Asp401Glu	rs376229739	missense variant	-	NC_000002.12:g.72132563G>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Thr402Arg	rs373423328	missense variant	-	NC_000002.12:g.72132561G>C	ESP,ExAC,gnomAD
CYP26B1	Q9NR63	p.Ala403Val	rs1309087026	missense variant	-	NC_000002.12:g.72132558G>A	gnomAD
CYP26B1	Q9NR63	p.Val405Met	rs759817226	missense variant	-	NC_000002.12:g.72132553C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Lys407Gln	rs965407824	missense variant	-	NC_000002.12:g.72132547T>G	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asp408Tyr	COSM1022698	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132544C>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Val409Leu	rs370211150	missense variant	-	NC_000002.12:g.72132541C>A	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val409Met	rs370211150	missense variant	-	NC_000002.12:g.72132541C>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val411Met	rs182029240	missense variant	-	NC_000002.12:g.72132535C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asp413Asn	rs1181247007	missense variant	-	NC_000002.12:g.72132529C>T	gnomAD
CYP26B1	Q9NR63	p.Asp415Asn	rs773830856	missense variant	-	NC_000002.12:g.72132523C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg416Gly	rs768357577	missense variant	-	NC_000002.12:g.72132520G>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg416His	rs545107761	missense variant	-	NC_000002.12:g.72132519C>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ser418Arg	rs748938778	missense variant	-	NC_000002.12:g.72132514T>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Ala420Val	rs7568553	missense variant	-	NC_000002.12:g.72132507G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala420Gly	rs7568553	missense variant	-	NC_000002.12:g.72132507G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala420Thr	rs1331887504	missense variant	-	NC_000002.12:g.72132508C>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala420Gly	RCV000514998	missense variant	-	NC_000002.12:g.72132507G>C	ClinVar
CYP26B1	Q9NR63	p.Arg421Trp	rs571722272	missense variant	-	NC_000002.12:g.72132505G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg421Gln	rs752879483	missense variant	-	NC_000002.12:g.72132504C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ser422Arg	rs1436766682	missense variant	-	NC_000002.12:g.72132500G>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu423Lys	rs1348778460	missense variant	-	NC_000002.12:g.72132499C>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asp424Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72132496C>A	NCI-TCGA
CYP26B1	Q9NR63	p.Lys425Glu	rs779129723	missense variant	-	NC_000002.12:g.72132493T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Gly427Asp	COSM3695594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132486C>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Gly427Ser	rs1458729157	missense variant	-	NC_000002.12:g.72132487C>T	gnomAD
CYP26B1	Q9NR63	p.Arg428Cys	rs755255380	missense variant	-	NC_000002.12:g.72132484G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg428His	rs758398183	missense variant	-	NC_000002.12:g.72132483C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg428Leu	rs758398183	missense variant	-	NC_000002.12:g.72132483C>A	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.His430Tyr	rs766677136	missense variant	-	NC_000002.12:g.72132478G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Pro433Leu	COSM721892	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132468G>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Gly435Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72132462C>A	NCI-TCGA
CYP26B1	Q9NR63	p.Gly435Ser	rs1211950654	missense variant	-	NC_000002.12:g.72132463C>T	gnomAD
CYP26B1	Q9NR63	p.Gly437Ser	rs1228321015	missense variant	-	NC_000002.12:g.72132457C>T	gnomAD
CYP26B1	Q9NR63	p.Val438Ile	rs762297468	missense variant	-	NC_000002.12:g.72132454C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Val438Asp	rs773920775	missense variant	-	NC_000002.12:g.72132453A>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg439Trp	rs1219442544	missense variant	-	NC_000002.12:g.72132451G>A	gnomAD
CYP26B1	Q9NR63	p.Thr440Ile	rs763531942	missense variant	-	NC_000002.12:g.72132447G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Lys444Arg	rs1319743439	missense variant	-	NC_000002.12:g.72132435T>C	gnomAD
CYP26B1	Q9NR63	p.His445Arg	rs775163285	missense variant	-	NC_000002.12:g.72132432T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.His445Gln	rs200419940	missense variant	-	NC_000002.12:g.72132431G>C	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu446Val	rs1176569814	missense variant	-	NC_000002.12:g.72132430G>C	gnomAD
CYP26B1	Q9NR63	p.Phe450Leu	COSM477620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132416G>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Phe450Ser	rs1394650857	missense variant	-	NC_000002.12:g.72132417A>G	gnomAD
CYP26B1	Q9NR63	p.Leu451Pro	rs1384758273	missense variant	-	NC_000002.12:g.72132414A>G	TOPMed
CYP26B1	Q9NR63	p.Val453Met	rs769295445	missense variant	-	NC_000002.12:g.72132409C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Val453Leu	rs769295445	missense variant	-	NC_000002.12:g.72132409C>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Leu454Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72132406G>T	NCI-TCGA
CYP26B1	Q9NR63	p.Ala455Val	rs142523471	missense variant	-	NC_000002.12:g.72132402G>A	ESP,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val456Met	rs776274383	missense variant	-	NC_000002.12:g.72132400C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val456Leu	COSM721893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132400C>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Val456Leu	rs776274383	missense variant	-	NC_000002.12:g.72132400C>G	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val456Ala	rs1400525149	missense variant	-	NC_000002.12:g.72132399A>G	TOPMed
CYP26B1	Q9NR63	p.Glu457Asp	rs779146812	missense variant	-	NC_000002.12:g.72132395C>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Glu457Asp	rs779146812	missense variant	-	NC_000002.12:g.72132395C>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Glu457Lys	rs746875435	missense variant	-	NC_000002.12:g.72132397C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu458Arg	rs755059392	missense variant	-	NC_000002.12:g.72132393A>C	ExAC
CYP26B1	Q9NR63	p.Ser460Gly	rs1300724508	missense variant	-	NC_000002.12:g.72132388T>C	gnomAD
CYP26B1	Q9NR63	p.Ser460Ile	rs780364207	missense variant	-	NC_000002.12:g.72132387C>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Thr461Pro	rs756269775	missense variant	-	NC_000002.12:g.72132385T>G	ExAC,gnomAD
CYP26B1	Q9NR63	p.Ser462Thr	rs750860236	missense variant	-	NC_000002.12:g.72132381C>G	ExAC
CYP26B1	Q9NR63	p.Ser462Arg	COSM443177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132380G>C	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Ser462Gly	COSM1306975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132382T>C	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Arg463His	rs752009576	missense variant	-	NC_000002.12:g.72132378C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg463Gly	rs201193616	missense variant	-	NC_000002.12:g.72132379G>C	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg463Cys	rs201193616	missense variant	-	NC_000002.12:g.72132379G>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala467Ser	COSM721894	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132367C>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Arg469Trp	rs762485791	missense variant	-	NC_000002.12:g.72132361G>A	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg469Gly	rs762485791	missense variant	-	NC_000002.12:g.72132361G>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Arg469Gln	rs774836618	missense variant	-	NC_000002.12:g.72132360C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Phe471Leu	rs764995614	missense variant	-	NC_000002.12:g.72132353G>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Phe471Leu	rs764995614	missense variant	-	NC_000002.12:g.72132353G>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro472Ser	rs146011965	missense variant	-	NC_000002.12:g.72132352G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro472Leu	COSM5562529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132351G>A	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Arg473Cys	rs61751056	missense variant	-	NC_000002.12:g.72132349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg473Cys	rs61751056	missense variant	-	NC_000002.12:g.72132349G>A	UniProt,dbSNP
CYP26B1	Q9NR63	p.Arg473Cys	VAR_038728	missense variant	-	NC_000002.12:g.72132349G>A	UniProt
CYP26B1	Q9NR63	p.Arg473His	rs368475843	missense variant	-	NC_000002.12:g.72132348C>T	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg473Ser	rs61751056	missense variant	-	NC_000002.12:g.72132349G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Arg473Leu	rs368475843	missense variant	-	NC_000002.12:g.72132348C>A	1000Genomes,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ile474Met	rs773244226	missense variant	-	NC_000002.12:g.72132344G>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu476Phe	rs999954899	missense variant	-	NC_000002.12:g.72132338C>G	gnomAD
CYP26B1	Q9NR63	p.Val477Ile	COSM1022695	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.72132337C>T	NCI-TCGA Cosmic
CYP26B1	Q9NR63	p.Pro478Thr	rs200414575	missense variant	-	NC_000002.12:g.72132334G>T	1000Genomes,ExAC
CYP26B1	Q9NR63	p.Val479Phe	rs148075682	missense variant	-	NC_000002.12:g.72132331C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val479Ile	rs148075682	missense variant	-	NC_000002.12:g.72132331C>T	UniProt,dbSNP
CYP26B1	Q9NR63	p.Val479Ile	VAR_038729	missense variant	-	NC_000002.12:g.72132331C>T	UniProt
CYP26B1	Q9NR63	p.Val479Ile	rs148075682	missense variant	-	NC_000002.12:g.72132331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.His481Gln	rs781553628	missense variant	-	NC_000002.12:g.72132323G>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Val483Met	rs79138418	missense variant	-	NC_000002.12:g.72132319C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Asp484Gly	rs1224544142	missense variant	-	NC_000002.12:g.72132315T>C	gnomAD
CYP26B1	Q9NR63	p.Asp484Glu	rs778297204	missense variant	-	NC_000002.12:g.72132314A>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly485Asp	rs1313251968	missense variant	-	NC_000002.12:g.72132312C>T	gnomAD
CYP26B1	Q9NR63	p.Ser487Asn	rs1353314476	missense variant	-	NC_000002.12:g.72132306C>T	gnomAD
CYP26B1	Q9NR63	p.Val488Ile	rs764651607	missense variant	-	NC_000002.12:g.72132304C>T	ExAC,gnomAD
CYP26B1	Q9NR63	p.Phe490Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72132298A>G	NCI-TCGA
CYP26B1	Q9NR63	p.Phe491Cys	rs753411250	missense variant	-	NC_000002.12:g.72132294A>C	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gly492Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72132291C>A	NCI-TCGA
CYP26B1	Q9NR63	p.Asp494Asn	rs1216548054	missense variant	-	NC_000002.12:g.72132286C>T	gnomAD
CYP26B1	Q9NR63	p.Ser495Phe	rs943721142	missense variant	-	NC_000002.12:g.72132282G>A	TOPMed
CYP26B1	Q9NR63	p.Asn496Asp	rs773092721	missense variant	-	NC_000002.12:g.72132280T>C	ExAC,gnomAD
CYP26B1	Q9NR63	p.Gln497His	rs138558556	missense variant	-	NC_000002.12:g.72132275C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Gln497Ter	rs1475207350	stop gained	-	NC_000002.12:g.72132277G>A	gnomAD
CYP26B1	Q9NR63	p.Asn498Lys	rs140097862	missense variant	-	NC_000002.12:g.72132272G>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu499Lys	rs142056257	missense variant	-	NC_000002.12:g.72132271C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ile500Ser	rs1249329697	missense variant	-	NC_000002.12:g.72132267A>C	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ile500Thr	rs1249329697	missense variant	-	NC_000002.12:g.72132267A>G	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Leu501Pro	rs919489984	missense variant	-	NC_000002.12:g.72132264A>G	TOPMed
CYP26B1	Q9NR63	p.Pro502Thr	rs146447538	missense variant	-	NC_000002.12:g.72132262G>T	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro502Arg	rs375261360	missense variant	-	NC_000002.12:g.72132261G>C	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Pro502Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.72132262G>A	NCI-TCGA
CYP26B1	Q9NR63	p.Pro502Leu	rs375261360	missense variant	-	NC_000002.12:g.72132261G>A	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Glu503Asp	rs202200784	missense variant	-	NC_000002.12:g.72132257C>A	ESP,ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala506Asp	rs1328372634	missense variant	-	NC_000002.12:g.72132249G>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala506Val	rs1328372634	missense variant	-	NC_000002.12:g.72132249G>A	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Met507Val	rs1389948857	missense variant	-	NC_000002.12:g.72132247T>C	gnomAD
CYP26B1	Q9NR63	p.Ser509Thr	rs1294240501	missense variant	-	NC_000002.12:g.72132240C>G	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ser509Asn	rs1294240501	missense variant	-	NC_000002.12:g.72132240C>T	TOPMed,gnomAD
CYP26B1	Q9NR63	p.Ala510Thr	rs754415899	missense variant	-	NC_000002.12:g.72132238C>T	ExAC,TOPMed,gnomAD
CYP26B1	Q9NR63	p.Thr511Ala	rs1473083430	missense variant	-	NC_000002.12:g.72132235T>C	gnomAD
CYP26B1	Q9NR63	p.Ter513Gln	rs1179205871	stop lost	-	NC_000002.12:g.72132229A>G	gnomAD
PDGFC	Q9NRA1	p.Ser2Asn	rs371638899	missense variant	-	NC_000004.12:g.156970899C>T	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ser2Ile	rs371638899	missense variant	-	NC_000004.12:g.156970899C>A	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gly5Arg	rs780536683	missense variant	-	NC_000004.12:g.156970891C>G	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Leu6Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156970887A>C	NCI-TCGA
PDGFC	Q9NRA1	p.Leu7Ile	rs750927647	missense variant	-	NC_000004.12:g.156970885G>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ser11Cys	rs1229291727	missense variant	-	NC_000004.12:g.156970872G>C	TOPMed
PDGFC	Q9NRA1	p.Ala12Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156970870C>G	NCI-TCGA
PDGFC	Q9NRA1	p.Leu13Val	rs757786156	missense variant	-	NC_000004.12:g.156970867G>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Leu13ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.156970858_156970867GGCCGGCCAG>-	NCI-TCGA
PDGFC	Q9NRA1	p.Ala14Gly	rs200141022	missense variant	-	NC_000004.12:g.156970863G>C	1000Genomes,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ala14Val	rs200141022	missense variant	-	NC_000004.12:g.156970863G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gly15Cys	rs752398576	missense variant	-	NC_000004.12:g.156970861C>A	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Arg17Ser	rs1410403807	missense variant	-	NC_000004.12:g.156970853T>A	gnomAD
PDGFC	Q9NRA1	p.Gln18Arg	rs902283916	missense variant	-	NC_000004.12:g.156970851T>C	gnomAD
PDGFC	Q9NRA1	p.Gln18Pro	rs902283916	missense variant	-	NC_000004.12:g.156970851T>G	gnomAD
PDGFC	Q9NRA1	p.Gln18Glu	rs767333984	missense variant	-	NC_000004.12:g.156970852G>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly19Val	rs1457774354	missense variant	-	NC_000004.12:g.156970848C>A	TOPMed
PDGFC	Q9NRA1	p.Thr20Ile	rs561086846	missense variant	-	NC_000004.12:g.156970845G>A	1000Genomes,ExAC,gnomAD
PDGFC	Q9NRA1	p.Gln21Pro	rs774205332	missense variant	-	NC_000004.12:g.156970842T>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ala22Val	rs766170502	missense variant	-	NC_000004.12:g.156970839G>A	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ala22Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156970839G>T	NCI-TCGA
PDGFC	Q9NRA1	p.Asn25Ile	rs1182260986	missense variant	-	NC_000004.12:g.156970830T>A	TOPMed
PDGFC	Q9NRA1	p.Asn25Ser	rs1182260986	missense variant	-	NC_000004.12:g.156970830T>C	TOPMed
PDGFC	Q9NRA1	p.Leu26Arg	rs768899191	missense variant	-	NC_000004.12:g.156970827A>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ser27Asn	rs747210671	missense variant	-	NC_000004.12:g.156970824C>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ser27Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156970825T>C	NCI-TCGA
PDGFC	Q9NRA1	p.Ser27Ile	COSM1052563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156970824C>A	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Ser28Thr	rs1260420101	missense variant	-	NC_000004.12:g.156970821C>G	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Phe30Leu	rs775910775	missense variant	-	NC_000004.12:g.156970814G>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gln31His	rs149931440	missense variant	-	NC_000004.12:g.156970811C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gln31His	rs149931440	missense variant	-	NC_000004.12:g.156970811C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ser34Gly	rs1263443137	missense variant	-	NC_000004.12:g.156970804T>C	gnomAD
PDGFC	Q9NRA1	p.Lys36Asn	rs749823455	missense variant	-	NC_000004.12:g.156970796C>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Glu37Asp	rs1442880005	missense variant	-	NC_000004.12:g.156970793T>G	gnomAD
PDGFC	Q9NRA1	p.Gln38Arg	rs139145392	missense variant	-	NC_000004.12:g.156970791T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gly40Glu	rs750380935	missense variant	-	NC_000004.12:g.156850416C>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly40Arg	rs755681238	missense variant	-	NC_000004.12:g.156970786C>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly40Arg	rs755681238	missense variant	-	NC_000004.12:g.156970786C>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly40Ala	rs750380935	missense variant	-	NC_000004.12:g.156850416C>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gln42Arg	rs761855036	missense variant	-	NC_000004.12:g.156850410T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gln42His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156850409T>G	NCI-TCGA
PDGFC	Q9NRA1	p.His46Gln	rs146333661	missense variant	-	NC_000004.12:g.156850397A>T	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.His46Arg	rs767663101	missense variant	-	NC_000004.12:g.156850398T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.His46Tyr	rs752667042	missense variant	-	NC_000004.12:g.156850399G>A	ExAC,gnomAD
PDGFC	Q9NRA1	p.Arg48Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156850392C>T	NCI-TCGA
PDGFC	Q9NRA1	p.Arg48Ile	COSM3428282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850392C>A	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Ile50Val	rs1413516396	missense variant	-	NC_000004.12:g.156850387T>C	gnomAD
PDGFC	Q9NRA1	p.Ile50Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156850386A>G	NCI-TCGA
PDGFC	Q9NRA1	p.Ile50Met	rs774680655	missense variant	-	NC_000004.12:g.156850385A>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Thr54Ala	rs1378336819	missense variant	-	NC_000004.12:g.156850375T>C	gnomAD
PDGFC	Q9NRA1	p.Asn55Asp	rs1478561664	missense variant	-	NC_000004.12:g.156850372T>C	gnomAD
PDGFC	Q9NRA1	p.Gly56Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156850369C>T	NCI-TCGA
PDGFC	Q9NRA1	p.Gly56Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156850368C>T	NCI-TCGA
PDGFC	Q9NRA1	p.Ser57Arg	rs771283512	missense variant	-	NC_000004.12:g.156850366T>G	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ser57Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156850365C>A	NCI-TCGA
PDGFC	Q9NRA1	p.Ile58Val	rs763240700	missense variant	-	NC_000004.12:g.156850363T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ile58Thr	rs1214202962	missense variant	-	NC_000004.12:g.156850362A>G	TOPMed
PDGFC	Q9NRA1	p.His59Arg	rs1490360730	missense variant	-	NC_000004.12:g.156850359T>C	gnomAD
PDGFC	Q9NRA1	p.Arg62Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156850351T>C	NCI-TCGA
PDGFC	Q9NRA1	p.Pro64Ser	rs1285168954	missense variant	-	NC_000004.12:g.156850345G>A	TOPMed
PDGFC	Q9NRA1	p.His65Arg	rs773583675	missense variant	-	NC_000004.12:g.156850341T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Thr66Ala	rs1490504018	missense variant	-	NC_000004.12:g.156850339T>C	TOPMed
PDGFC	Q9NRA1	p.Pro68Ser	COSM3601327	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850333G>A	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Arg69Gly	rs1320903452	missense variant	-	NC_000004.12:g.156850330T>C	gnomAD
PDGFC	Q9NRA1	p.Arg69Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156850329C>T	NCI-TCGA
PDGFC	Q9NRA1	p.Asn70Asp	rs765407120	missense variant	-	NC_000004.12:g.156850327T>C	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Thr71Met	rs370076533	missense variant	-	NC_000004.12:g.156850323G>A	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Val74Leu	rs1399521744	missense variant	-	NC_000004.12:g.156850315C>A	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Trp75Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156850310C>G	NCI-TCGA
PDGFC	Q9NRA1	p.Trp75Ter	COSM3601326	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.156850311C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Arg76Ser	rs1368392765	missense variant	-	NC_000004.12:g.156850307T>A	gnomAD
PDGFC	Q9NRA1	p.Val78Leu	rs1295866378	missense variant	-	NC_000004.12:g.156850303C>G	gnomAD
PDGFC	Q9NRA1	p.Val78Glu	rs768262677	missense variant	-	NC_000004.12:g.156850302A>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Val80Glu	rs1366701791	missense variant	-	NC_000004.12:g.156850296A>T	TOPMed
PDGFC	Q9NRA1	p.Glu81Asp	COSM4123063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850292C>A	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Glu82Gly	rs1349672377	missense variant	-	NC_000004.12:g.156850290T>C	gnomAD
PDGFC	Q9NRA1	p.Glu82Lys	COSM3601325	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850291C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Asn83Ser	rs1427163786	missense variant	-	NC_000004.12:g.156850287T>C	TOPMed
PDGFC	Q9NRA1	p.Val84Ile	COSM4123062	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850285C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Trp85Cys	rs758126449	missense variant	-	NC_000004.12:g.156850280C>A	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ile86Val	rs1192469833	missense variant	-	NC_000004.12:g.156850279T>C	gnomAD
PDGFC	Q9NRA1	p.Gln87Arg	rs1392045879	missense variant	-	NC_000004.12:g.156850275T>C	TOPMed
PDGFC	Q9NRA1	p.Thr89Arg	rs368835623	missense variant	-	NC_000004.12:g.156850269G>C	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Thr89Met	rs368835623	missense variant	-	NC_000004.12:g.156850269G>A	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Glu92Asp	rs757216782	missense variant	-	NC_000004.12:g.156850259T>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Arg93Lys	rs753850250	missense variant	-	NC_000004.12:g.156850257C>T	ExAC
PDGFC	Q9NRA1	p.Leu96Phe	rs759716749	missense variant	-	NC_000004.12:g.156850249G>A	ExAC,gnomAD
PDGFC	Q9NRA1	p.Leu96Ile	rs759716749	missense variant	-	NC_000004.12:g.156850249G>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Glu97Lys	COSM3917330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156850246C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Asp98Val	rs1269009732	missense variant	-	NC_000004.12:g.156850242T>A	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Pro99Thr	rs751597903	missense variant	-	NC_000004.12:g.156850240G>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Glu100Asp	rs1315801636	missense variant	-	NC_000004.12:g.156850235T>G	gnomAD
PDGFC	Q9NRA1	p.Asp102Gly	rs1218233550	missense variant	-	NC_000004.12:g.156850230T>C	gnomAD
PDGFC	Q9NRA1	p.Asp102Asn	rs940880207	missense variant	-	NC_000004.12:g.156850231C>T	TOPMed
PDGFC	Q9NRA1	p.Ile103Val	rs1303422373	missense variant	-	NC_000004.12:g.156850228T>C	gnomAD
PDGFC	Q9NRA1	p.Lys105Arg	rs763188788	missense variant	-	NC_000004.12:g.156850221T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Tyr106Cys	rs749165375	missense variant	-	NC_000004.12:g.156811015T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Glu110Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.156811004C>A	NCI-TCGA
PDGFC	Q9NRA1	p.Val111Ile	rs568689484	missense variant	-	NC_000004.12:g.156811001C>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Glu112Lys	rs1242871066	missense variant	-	NC_000004.12:g.156810998C>T	gnomAD
PDGFC	Q9NRA1	p.Glu112Asp	rs969240001	missense variant	-	NC_000004.12:g.156810996C>G	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ser115Asn	rs910536904	missense variant	-	NC_000004.12:g.156810988C>T	TOPMed
PDGFC	Q9NRA1	p.Gly117Glu	COSM3601324	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156810982C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Ile119Thr	rs1300684521	missense variant	-	NC_000004.12:g.156810976A>G	gnomAD
PDGFC	Q9NRA1	p.Ile119Val	rs751613380	missense variant	-	NC_000004.12:g.156810977T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly121Val	rs1256069208	missense variant	-	NC_000004.12:g.156810970C>A	TOPMed
PDGFC	Q9NRA1	p.Arg122Cys	rs374056468	missense variant	-	NC_000004.12:g.156810968G>A	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Arg122Leu	COSM733345	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156810967C>A	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Cys124Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156810961C>T	NCI-TCGA
PDGFC	Q9NRA1	p.Gly127Ala	rs765573815	missense variant	-	NC_000004.12:g.156810952C>G	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gly127Asp	rs765573815	missense variant	-	NC_000004.12:g.156810952C>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gly127Val	rs765573815	missense variant	-	NC_000004.12:g.156810952C>A	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Val129Ala	rs776862036	missense variant	-	NC_000004.12:g.156810946A>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly131Glu	rs775096431	missense variant	-	NC_000004.12:g.156810940C>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gly131Arg	rs761104554	missense variant	-	NC_000004.12:g.156810941C>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly131Ala	rs775096431	missense variant	-	NC_000004.12:g.156810940C>G	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gln133Arg	rs771747215	missense variant	-	NC_000004.12:g.156810934T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Lys136Asn	rs745492710	missense variant	-	NC_000004.12:g.156810924T>A	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gly137Arg	rs774202989	missense variant	-	NC_000004.12:g.156810923C>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly137Ala	rs770625749	missense variant	-	NC_000004.12:g.156810922C>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly137Glu	COSM1539596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156810922C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Gln139Ter	COSM4493470	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.156810917G>A	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Ile140Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156810914T>C	NCI-TCGA
PDGFC	Q9NRA1	p.Arg141Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156810909C>G	NCI-TCGA
PDGFC	Q9NRA1	p.Arg141Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156810910C>T	NCI-TCGA
PDGFC	Q9NRA1	p.Arg143Lys	rs1467376775	missense variant	-	NC_000004.12:g.156810904C>T	TOPMed
PDGFC	Q9NRA1	p.Tyr149Cys	rs1401367940	missense variant	-	NC_000004.12:g.156810886T>C	TOPMed
PDGFC	Q9NRA1	p.Pro151Ser	COSM3601321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156810881G>A	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Glu153Lys	rs748127729	missense variant	-	NC_000004.12:g.156810875C>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Glu153Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.156810875C>A	NCI-TCGA
PDGFC	Q9NRA1	p.Glu153Gln	rs748127729	missense variant	-	NC_000004.12:g.156810875C>G	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Pro154Leu	rs780089507	missense variant	-	NC_000004.12:g.156810871G>A	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ile158Met	rs750641386	missense variant	-	NC_000004.12:g.156810858G>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ile158Leu	rs758535039	missense variant	-	NC_000004.12:g.156810860T>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.His159Arg	rs1417814417	missense variant	-	NC_000004.12:g.156810856T>C	gnomAD
PDGFC	Q9NRA1	p.Ile162Val	rs765374743	missense variant	-	NC_000004.12:g.156810848T>C	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ile162Thr	rs757431261	missense variant	-	NC_000004.12:g.156810847A>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Val163Ile	rs1473687179	missense variant	-	NC_000004.12:g.156810845C>T	gnomAD
PDGFC	Q9NRA1	p.Met164Thr	rs1303677965	missense variant	-	NC_000004.12:g.156810841A>G	TOPMed
PDGFC	Q9NRA1	p.Met164Val	rs1433925119	missense variant	-	NC_000004.12:g.156810842T>C	TOPMed
PDGFC	Q9NRA1	p.Pro165Thr	rs1030602867	missense variant	-	NC_000004.12:g.156810839G>T	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gln166Arg	rs1476617514	missense variant	-	NC_000004.12:g.156772892T>C	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Thr168Ala	rs966748227	missense variant	-	NC_000004.12:g.156772887T>C	TOPMed
PDGFC	Q9NRA1	p.Thr168Ile	rs1217287477	missense variant	-	NC_000004.12:g.156772886G>A	gnomAD
PDGFC	Q9NRA1	p.Ala170Ser	rs769629986	missense variant	-	NC_000004.12:g.156772881C>A	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ala170Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156772880G>T	NCI-TCGA
PDGFC	Q9NRA1	p.Val171Leu	rs1223046493	missense variant	-	NC_000004.12:g.156772878C>G	gnomAD
PDGFC	Q9NRA1	p.Pro173Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156772872G>T	NCI-TCGA
PDGFC	Q9NRA1	p.Pro173Ser	rs761532550	missense variant	-	NC_000004.12:g.156772872G>A	ExAC,gnomAD
PDGFC	Q9NRA1	p.Pro177Thr	rs1021050969	missense variant	-	NC_000004.12:g.156772860G>T	TOPMed
PDGFC	Q9NRA1	p.Pro178Ala	rs140044447	missense variant	-	NC_000004.12:g.156772857G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Pro178LeuPheSerTerUnkUnk	COSM1428212	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.156772856G>-	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Ala180Gly	rs1420357324	missense variant	-	NC_000004.12:g.156772850G>C	gnomAD
PDGFC	Q9NRA1	p.Ala180Thr	rs779015452	missense variant	-	NC_000004.12:g.156772851C>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ala180Val	rs1420357324	missense variant	-	NC_000004.12:g.156772850G>A	gnomAD
PDGFC	Q9NRA1	p.Asp184Gly	rs901467319	missense variant	-	NC_000004.12:g.156772838T>C	TOPMed
PDGFC	Q9NRA1	p.Asn187Ser	rs749512195	missense variant	-	NC_000004.12:g.156772829T>C	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Asn188Lys	rs1414901982	missense variant	-	NC_000004.12:g.156772825A>T	gnomAD
PDGFC	Q9NRA1	p.Ile190Val	rs1264111872	missense variant	-	NC_000004.12:g.156772821T>C	gnomAD
PDGFC	Q9NRA1	p.Thr191Ala	rs777922904	missense variant	-	NC_000004.12:g.156772818T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ser194Ile	rs1471582831	missense variant	-	NC_000004.12:g.156772808C>A	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Ser194Arg	rs756407673	missense variant	-	NC_000004.12:g.156772807A>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Thr195Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156772805G>A	NCI-TCGA
PDGFC	Q9NRA1	p.Leu196Val	rs1193819404	missense variant	-	NC_000004.12:g.156772803A>C	gnomAD
PDGFC	Q9NRA1	p.Glu197Lys	COSM3601320	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772800C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Asp198Asn	COSM460660	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772797C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Leu199Pro	COSM3601319	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772793A>G	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Arg201Ter	rs1041162351	stop gained	-	NC_000004.12:g.156772788G>A	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Arg201Gln	rs375990881	missense variant	-	NC_000004.12:g.156772787C>T	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Arg201Gly	COSM733346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772788G>C	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Leu203Ile	rs1253166666	missense variant	-	NC_000004.12:g.156772782G>T	gnomAD
PDGFC	Q9NRA1	p.Arg207Lys	COSM3601318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772769C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Trp208Arg	rs373950792	missense variant	-	NC_000004.12:g.156772767A>G	ESP,ExAC,gnomAD
PDGFC	Q9NRA1	p.Gln209Lys	rs765903830	missense variant	-	NC_000004.12:g.156772764G>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gln209His	rs749956577	missense variant	-	NC_000004.12:g.156772762C>A	ExAC,gnomAD
PDGFC	Q9NRA1	p.Leu212Val	rs1292868915	missense variant	-	NC_000004.12:g.156772755A>C	gnomAD
PDGFC	Q9NRA1	p.Glu213Gly	rs895227114	missense variant	-	NC_000004.12:g.156772751T>C	gnomAD
PDGFC	Q9NRA1	p.Glu213Lys	rs764741287	missense variant	-	NC_000004.12:g.156772752C>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Asp214Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156772749C>T	NCI-TCGA
PDGFC	Q9NRA1	p.Tyr216His	COSM4123060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772743A>G	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Pro218Leu	rs369762309	missense variant	-	NC_000004.12:g.156772736G>A	ESP,ExAC,gnomAD
PDGFC	Q9NRA1	p.Pro218Ser	rs1453592557	missense variant	-	NC_000004.12:g.156772737G>A	gnomAD
PDGFC	Q9NRA1	p.Trp220Arg	rs907608501	missense variant	-	NC_000004.12:g.156772731A>T	TOPMed
PDGFC	Q9NRA1	p.Trp220Ter	rs763913754	stop gained	-	NC_000004.12:g.156772729C>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gln221His	rs1278553883	missense variant	-	NC_000004.12:g.156772726T>G	TOPMed
PDGFC	Q9NRA1	p.Gly224Val	rs1170946998	missense variant	-	NC_000004.12:g.156772718C>A	gnomAD
PDGFC	Q9NRA1	p.Gly224Ser	rs375215057	missense variant	-	NC_000004.12:g.156772719C>T	ESP,ExAC,gnomAD
PDGFC	Q9NRA1	p.Phe227Leu	rs199562156	missense variant	-	NC_000004.12:g.156772708A>T	1000Genomes,ExAC,gnomAD
PDGFC	Q9NRA1	p.Phe229Ser	rs371889486	missense variant	-	NC_000004.12:g.156772703A>G	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Phe229Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156772703A>C	NCI-TCGA
PDGFC	Q9NRA1	p.Ser233Tyr	rs1217035827	missense variant	-	NC_000004.12:g.156772691G>T	TOPMed
PDGFC	Q9NRA1	p.Arg234Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156772689T>C	NCI-TCGA
PDGFC	Q9NRA1	p.Val235Ala	rs760452946	missense variant	-	NC_000004.12:g.156767990A>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Val235Glu	rs760452946	missense variant	-	NC_000004.12:g.156767990A>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Val235Leu	COSM6166710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156772686C>A	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Val236Met	rs1199543316	missense variant	-	NC_000004.12:g.156767988C>T	gnomAD
PDGFC	Q9NRA1	p.Asp237His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767985C>G	NCI-TCGA
PDGFC	Q9NRA1	p.Leu240Phe	rs1454426122	missense variant	-	NC_000004.12:g.156767976G>A	TOPMed
PDGFC	Q9NRA1	p.Leu241Val	rs201389930	missense variant	-	NC_000004.12:g.156767973G>C	1000Genomes,ExAC,gnomAD
PDGFC	Q9NRA1	p.Glu243Lys	rs759551032	missense variant	-	NC_000004.12:g.156767967C>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ser249Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767947G>T	NCI-TCGA
PDGFC	Q9NRA1	p.Cys250Arg	rs748367828	missense variant	-	NC_000004.12:g.156767946A>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Thr251Ala	rs777064864	missense variant	-	NC_000004.12:g.156767943T>C	ExAC,gnomAD
PDGFC	Q9NRA1	p.Arg253Cys	rs1056838662	missense variant	-	NC_000004.12:g.156767937G>A	TOPMed
PDGFC	Q9NRA1	p.Arg253His	rs769007620	missense variant	-	NC_000004.12:g.156767936C>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Phe255Cys	rs1305304570	missense variant	-	NC_000004.12:g.156767930A>C	TOPMed
PDGFC	Q9NRA1	p.Phe255Leu	COSM283921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767929G>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Val257Met	COSM3974785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767925C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Ser258Cys	rs1176538946	missense variant	-	NC_000004.12:g.156767921G>C	TOPMed
PDGFC	Q9NRA1	p.Ile259Val	rs1297244331	missense variant	-	NC_000004.12:g.156767919T>C	gnomAD
PDGFC	Q9NRA1	p.Glu261Lys	rs141820181	missense variant	-	NC_000004.12:g.156767913C>T	gnomAD
PDGFC	Q9NRA1	p.Arg265Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767899T>A	NCI-TCGA
PDGFC	Q9NRA1	p.Arg265Thr	rs138079287	missense variant	-	NC_000004.12:g.156767900C>G	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Arg265Lys	rs138079287	missense variant	-	NC_000004.12:g.156767900C>T	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Asp267Asn	rs1446932026	missense variant	-	NC_000004.12:g.156767895C>T	gnomAD
PDGFC	Q9NRA1	p.Ile269Leu	rs150367476	missense variant	-	NC_000004.12:g.156767889T>G	ESP,TOPMed
PDGFC	Q9NRA1	p.Leu275Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767871G>C	NCI-TCGA
PDGFC	Q9NRA1	p.Leu276Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767868G>T	NCI-TCGA
PDGFC	Q9NRA1	p.Val277Ile	rs746424459	missense variant	-	NC_000004.12:g.156767865C>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Arg279Cys	rs778368467	missense variant	-	NC_000004.12:g.156767859G>A	ExAC,gnomAD
PDGFC	Q9NRA1	p.Cys280Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767855C>T	NCI-TCGA
PDGFC	Q9NRA1	p.Gly281Asp	rs753484240	missense variant	-	NC_000004.12:g.156767852C>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Gly281Ser	rs756815335	missense variant	-	NC_000004.12:g.156767853C>T	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Cys287Ser	COSM3601314	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767834C>G	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Cys291Tyr	rs1454312674	missense variant	-	NC_000004.12:g.156767822C>T	TOPMed
PDGFC	Q9NRA1	p.Asn292His	rs910605904	missense variant	-	NC_000004.12:g.156767820T>G	TOPMed,gnomAD
PDGFC	Q9NRA1	p.Asn292Ser	rs767387050	missense variant	-	NC_000004.12:g.156767819T>C	ExAC
PDGFC	Q9NRA1	p.Glu293Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767817C>T	NCI-TCGA
PDGFC	Q9NRA1	p.Gln295Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767811G>T	NCI-TCGA
PDGFC	Q9NRA1	p.Gln295Ter	COSM460661	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.156767811G>A	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Cys296Phe	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767807C>A	NCI-TCGA
PDGFC	Q9NRA1	p.Val297Gly	rs1347847153	missense variant	-	NC_000004.12:g.156767804A>C	gnomAD
PDGFC	Q9NRA1	p.Val297Ile	COSM1052561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767805C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Pro298Arg	rs367723244	missense variant	-	NC_000004.12:g.156767801G>C	ESP,ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Pro298Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767801G>T	NCI-TCGA
PDGFC	Q9NRA1	p.Ser299Arg	rs1242849892	missense variant	-	NC_000004.12:g.156767797G>T	gnomAD
PDGFC	Q9NRA1	p.Ser299Gly	rs1430978881	missense variant	-	NC_000004.12:g.156767799T>C	TOPMed
PDGFC	Q9NRA1	p.Lys300Asn	rs1334335568	missense variant	-	NC_000004.12:g.156767794T>A	gnomAD
PDGFC	Q9NRA1	p.Lys300Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767794T>G	NCI-TCGA
PDGFC	Q9NRA1	p.Val301Ala	COSM4123059	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156767792A>G	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Lys303Thr	rs1271609281	missense variant	-	NC_000004.12:g.156767786T>G	TOPMed
PDGFC	Q9NRA1	p.Lys304AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.156767782T>-	NCI-TCGA
PDGFC	Q9NRA1	p.Tyr305Ser	rs765404800	missense variant	-	NC_000004.12:g.156767780T>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.His306Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767778G>A	NCI-TCGA
PDGFC	Q9NRA1	p.Glu307Lys	rs776866706	missense variant	-	NC_000004.12:g.156767775C>T	ExAC,gnomAD
PDGFC	Q9NRA1	p.Glu307Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767774T>G	NCI-TCGA
PDGFC	Q9NRA1	p.Glu307Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156767775C>G	NCI-TCGA
PDGFC	Q9NRA1	p.Glu307Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.156767775C>A	NCI-TCGA
PDGFC	Q9NRA1	p.Gln310Arg	rs964340726	missense variant	-	NC_000004.12:g.156763199T>C	TOPMed
PDGFC	Q9NRA1	p.Pro313Arg	rs764271106	missense variant	-	NC_000004.12:g.156763190G>C	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Thr315Ala	rs760783059	missense variant	-	NC_000004.12:g.156763185T>C	ExAC,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Gly316Ser	rs1455196232	missense variant	-	NC_000004.12:g.156763182C>T	TOPMed
PDGFC	Q9NRA1	p.Gly316Asp	COSM4123058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156763181C>T	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.His321Gln	rs1232243537	missense variant	-	NC_000004.12:g.156763165G>C	gnomAD
PDGFC	Q9NRA1	p.His321Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156763165G>T	NCI-TCGA
PDGFC	Q9NRA1	p.Lys322Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156763163T>C	NCI-TCGA
PDGFC	Q9NRA1	p.Thr325Ser	rs1271394599	missense variant	-	NC_000004.12:g.156763155T>A	gnomAD
PDGFC	Q9NRA1	p.Thr325Ser	COSM1052560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.156763154G>C	NCI-TCGA Cosmic
PDGFC	Q9NRA1	p.Asp326Ala	rs777243935	missense variant	-	NC_000004.12:g.156763151T>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Asp326Asn	rs150603208	missense variant	-	NC_000004.12:g.156763152C>T	1000Genomes,TOPMed,gnomAD
PDGFC	Q9NRA1	p.Val327Leu	rs538854061	missense variant	-	NC_000004.12:g.156763149C>A	gnomAD
PDGFC	Q9NRA1	p.Val327Met	rs538854061	missense variant	-	NC_000004.12:g.156763149C>T	gnomAD
PDGFC	Q9NRA1	p.Ala328Val	rs1324137195	missense variant	-	NC_000004.12:g.156763145G>A	gnomAD
PDGFC	Q9NRA1	p.Glu333Val	rs1474450244	missense variant	-	NC_000004.12:g.156763130T>A	gnomAD
PDGFC	Q9NRA1	p.Glu333Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.156763130T>C	NCI-TCGA
PDGFC	Q9NRA1	p.Arg340Thr	rs754603971	missense variant	-	NC_000004.12:g.156763109C>G	ExAC,gnomAD
PDGFC	Q9NRA1	p.Ser342Asn	rs1274387776	missense variant	-	NC_000004.12:g.156763103C>T	TOPMed
PDGFC	Q9NRA1	p.Gly344Glu	rs1457898893	missense variant	-	NC_000004.12:g.156763097C>T	gnomAD
PDGFC	Q9NRA1	p.Gly345Glu	rs750432240	missense variant	-	NC_000004.12:g.156763094C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala4Val	rs779750433	missense variant	-	NC_000006.12:g.158314027C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala4Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158314026G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Val5Met	rs749518667	missense variant	-	NC_000006.12:g.158314029G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.His7Arg	rs768814814	missense variant	-	NC_000006.12:g.158314036A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly8Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158314038G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Pro9Ser	rs1346902397	missense variant	-	NC_000006.12:g.158314041C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Cys12Ser	rs761818661	missense variant	-	NC_000006.12:g.158314051G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser13Gly	rs772174757	missense variant	-	NC_000006.12:g.158314053A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp14Glu	rs7756620	missense variant	-	NC_000006.12:g.158314058T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser15Phe	COSM3622372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158314060C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Asn16Ser	rs766737014	missense variant	-	NC_000006.12:g.158314063A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile17Val	rs1193149827	missense variant	-	NC_000006.12:g.158314065A>G	gnomAD
TULP4	Q9NRJ4	p.Leu18Val	rs754225602	missense variant	-	NC_000006.12:g.158314068C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Cys19Ser	rs1169604597	missense variant	-	NC_000006.12:g.158314072G>C	gnomAD
TULP4	Q9NRJ4	p.Leu20Val	rs1197595401	missense variant	-	NC_000006.12:g.158314074C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly24Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158314086G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Arg25His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158314090G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Arg25Cys	rs763597902	missense variant	-	NC_000006.12:g.158314089C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys28Arg	rs1276667147	missense variant	-	NC_000006.12:g.158314099A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser29Thr	rs1442043738	missense variant	-	NC_000006.12:g.158314102G>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro34Ser	rs780896544	missense variant	-	NC_000006.12:g.158314116C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro34Ala	rs780896544	missense variant	-	NC_000006.12:g.158314116C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val35Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158314120T>C	NCI-TCGA
TULP4	Q9NRJ4	p.Cys36Phe	rs1300814225	missense variant	-	NC_000006.12:g.158314123G>T	gnomAD
TULP4	Q9NRJ4	p.Arg37Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158314126G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Arg39Cys	COSM1075419	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158314131C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Arg39His	COSM3860043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158314132G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Tyr40Cys	rs756184917	missense variant	-	NC_000006.12:g.158314135A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Tyr41Cys	rs762874370	missense variant	-	NC_000006.12:g.158314138A>G	gnomAD
TULP4	Q9NRJ4	p.Tyr41His	rs1228946035	missense variant	-	NC_000006.12:g.158314137T>C	gnomAD
TULP4	Q9NRJ4	p.Glu42Lys	rs779882852	missense variant	-	NC_000006.12:g.158314140G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu46Pro	rs1479558820	missense variant	-	NC_000006.12:g.158314153T>C	-
TULP4	Q9NRJ4	p.Ala47Thr	COSM3860044	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158314155G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Thr48Met	rs748974236	missense variant	-	NC_000006.12:g.158314159C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn50Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158314165A>G	NCI-TCGA
TULP4	Q9NRJ4	p.Gly51Arg	rs545850723	missense variant	-	NC_000006.12:g.158314167G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg52Ter	rs773323875	stop gained	-	NC_000006.12:g.158314170C>T	ExAC
TULP4	Q9NRJ4	p.Val54Leu	rs972597381	missense variant	-	NC_000006.12:g.158314176G>C	TOPMed
TULP4	Q9NRJ4	p.Val55Ile	rs1191354523	missense variant	-	NC_000006.12:g.158314179G>A	gnomAD
TULP4	Q9NRJ4	p.His63Arg	rs747512159	missense variant	-	NC_000006.12:g.158314204A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg65Leu	rs564254313	missense variant	-	NC_000006.12:g.158314210G>T	1000Genomes,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg65Cys	rs771400781	missense variant	-	NC_000006.12:g.158314209C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg65His	rs564254313	missense variant	-	NC_000006.12:g.158314210G>A	1000Genomes,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp67Gly	rs1167858846	missense variant	-	NC_000006.12:g.158314216A>G	gnomAD
TULP4	Q9NRJ4	p.Asp67Glu	rs777208670	missense variant	-	NC_000006.12:g.158314217C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg68Lys	rs1406666309	missense variant	-	NC_000006.12:g.158314219G>A	gnomAD
TULP4	Q9NRJ4	p.Ser69Thr	rs202231886	missense variant	-	NC_000006.12:g.158314222G>C	gnomAD
TULP4	Q9NRJ4	p.Ser69Asn	rs202231886	missense variant	-	NC_000006.12:g.158314222G>A	gnomAD
TULP4	Q9NRJ4	p.Thr70Ala	rs1169131982	missense variant	-	NC_000006.12:g.158314224A>G	gnomAD
TULP4	Q9NRJ4	p.Thr70Ile	rs1045091320	missense variant	-	NC_000006.12:g.158314225C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg73Lys	rs1457965858	missense variant	-	NC_000006.12:g.158314234G>A	TOPMed
TULP4	Q9NRJ4	p.Arg73Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158314234G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Ile74Lys	rs1204210257	missense variant	-	NC_000006.12:g.158314237T>A	TOPMed
TULP4	Q9NRJ4	p.Arg79Trp	rs1324493664	missense variant	-	NC_000006.12:g.158314251C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg79Gln	rs1226330574	missense variant	-	NC_000006.12:g.158314252G>A	gnomAD
TULP4	Q9NRJ4	p.Asn82Asp	rs765656247	missense variant	-	NC_000006.12:g.158314260A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn82Ser	rs1235266039	missense variant	-	NC_000006.12:g.158314261A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser83Asn	rs151153166	missense variant	-	NC_000006.12:g.158314264G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu84Lys	rs141133811	missense variant	-	NC_000006.12:g.158314266G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala98Val	rs765940803	missense variant	-	NC_000006.12:g.158413105C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr99Met	rs937565993	missense variant	-	NC_000006.12:g.158413108C>T	TOPMed
TULP4	Q9NRJ4	p.Asp101Asn	rs906119955	missense variant	-	NC_000006.12:g.158413113G>A	TOPMed
TULP4	Q9NRJ4	p.Ala102Val	rs1334245517	missense variant	-	NC_000006.12:g.158413117C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly104Glu	COSM420996	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158413123G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Gly105Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158413126G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Val108Met	COSM3860046	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158413134G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Gln111Ter	COSM4852422	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158413143C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Val121Ile	rs960224645	missense variant	-	NC_000006.12:g.158413173G>A	TOPMed
TULP4	Q9NRJ4	p.Asp123Asn	rs201273653	missense variant	-	NC_000006.12:g.158413179G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg124Cys	rs1396439861	missense variant	-	NC_000006.12:g.158413182C>T	gnomAD
TULP4	Q9NRJ4	p.Gly125Arg	rs374071388	missense variant	-	NC_000006.12:g.158413185G>A	ESP,ExAC,TOPMed
TULP4	Q9NRJ4	p.Ala126Val	rs367703455	missense variant	-	NC_000006.12:g.158413189C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln127Arg	rs1296341755	missense variant	-	NC_000006.12:g.158413192A>G	gnomAD
TULP4	Q9NRJ4	p.Gln127Lys	rs1463434537	missense variant	-	NC_000006.12:g.158413191C>A	gnomAD
TULP4	Q9NRJ4	p.Val128Met	rs1448251816	missense variant	-	NC_000006.12:g.158429736G>A	TOPMed
TULP4	Q9NRJ4	p.Ser129Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158429739A>G	NCI-TCGA
TULP4	Q9NRJ4	p.Ser129Thr	rs147594079	missense variant	-	NC_000006.12:g.158429740G>C	ESP,TOPMed
TULP4	Q9NRJ4	p.Asp130Val	rs1307414440	missense variant	-	NC_000006.12:g.158429743A>T	gnomAD
TULP4	Q9NRJ4	p.Thr132Met	rs375882472	missense variant	-	NC_000006.12:g.158429749C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp136Asn	rs1248201598	missense variant	-	NC_000006.12:g.158429760G>A	gnomAD
TULP4	Q9NRJ4	p.Ala140Thr	rs1418769894	missense variant	-	NC_000006.12:g.158429772G>A	gnomAD
TULP4	Q9NRJ4	p.Ser143Cys	rs1424290736	missense variant	-	NC_000006.12:g.158429782C>G	gnomAD
TULP4	Q9NRJ4	p.Arg145Gly	rs1010046898	missense variant	-	NC_000006.12:g.158429787C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg145Gln	rs199717475	missense variant	-	NC_000006.12:g.158429788G>A	1000Genomes,TOPMed
TULP4	Q9NRJ4	p.Asp146Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158429790G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Val149Leu	rs759019241	missense variant	-	NC_000006.12:g.158429799G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.His159Asp	rs777811451	missense variant	-	NC_000006.12:g.158429829C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser161Leu	rs755898916	missense variant	-	NC_000006.12:g.158429836C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu163Lys	COSM207271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158429841G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ile164Leu	rs1332052318	missense variant	-	NC_000006.12:g.158429844A>C	gnomAD
TULP4	Q9NRJ4	p.Gln169Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.158429859C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Thr171Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158429866C>A	NCI-TCGA
TULP4	Q9NRJ4	p.Thr171Met	rs1239716102	missense variant	-	NC_000006.12:g.158429866C>T	gnomAD
TULP4	Q9NRJ4	p.Ile174Thr	rs754369167	missense variant	-	NC_000006.12:g.158429875T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Trp175Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.158429879G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Asp179Asn	rs779135997	missense variant	-	NC_000006.12:g.158429889G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln180His	rs748488700	missense variant	-	NC_000006.12:g.158429894A>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Val182Leu	rs753176182	missense variant	-	NC_000006.12:g.158448996G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr186Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158449008A>C	NCI-TCGA
TULP4	Q9NRJ4	p.Thr186Met	rs376940085	missense variant	-	NC_000006.12:g.158449009C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp188His	rs748728620	missense variant	-	NC_000006.12:g.158449014G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp188Asn	rs748728620	missense variant	-	NC_000006.12:g.158449014G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly189Arg	rs1330081267	missense variant	-	NC_000006.12:g.158449017G>A	gnomAD
TULP4	Q9NRJ4	p.Val191Met	rs1428846054	missense variant	-	NC_000006.12:g.158449023G>A	TOPMed
TULP4	Q9NRJ4	p.Val193Ile	rs774292933	missense variant	-	NC_000006.12:g.158449029G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly198Ser	rs771873011	missense variant	-	NC_000006.12:g.158449044G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg199Ser	rs705956	missense variant	-	NC_000006.12:g.158449049A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg199Ser	rs705956	missense variant	-	NC_000006.12:g.158449049A>C	UniProt,dbSNP
TULP4	Q9NRJ4	p.Arg199Ser	VAR_059841	missense variant	-	NC_000006.12:g.158449049A>C	UniProt
TULP4	Q9NRJ4	p.Arg199Ser	rs705956	missense variant	-	NC_000006.12:g.158449049A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala202Val	rs1055528637	missense variant	-	NC_000006.12:g.158449057C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala202Gly	rs1055528637	missense variant	-	NC_000006.12:g.158449057C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.His203Tyr	rs766653993	missense variant	-	NC_000006.12:g.158449059C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Val204Phe	rs34360218	missense variant	-	NC_000006.12:g.158449062G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val204Ile	rs34360218	missense variant	-	NC_000006.12:g.158449062G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.His207Asp	rs1264151068	missense variant	-	NC_000006.12:g.158449071C>G	TOPMed
TULP4	Q9NRJ4	p.Glu208Lys	rs1393678072	missense variant	-	NC_000006.12:g.158449074G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp210Asn	rs1454061113	missense variant	-	NC_000006.12:g.158449080G>A	gnomAD
TULP4	Q9NRJ4	p.Asp210Glu	rs763435551	missense variant	-	NC_000006.12:g.158449082C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly211Cys	rs764504122	missense variant	-	NC_000006.12:g.158449083G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly211Arg	rs764504122	missense variant	-	NC_000006.12:g.158449083G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly211Ser	rs764504122	missense variant	-	NC_000006.12:g.158449083G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val212Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158449086G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Leu213Arg	rs757622758	missense variant	-	NC_000006.12:g.158449090T>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly214Ser	rs35262826	missense variant	-	NC_000006.12:g.158449092G>A	UniProt,dbSNP
TULP4	Q9NRJ4	p.Gly214Ser	VAR_052417	missense variant	-	NC_000006.12:g.158449092G>A	UniProt
TULP4	Q9NRJ4	p.Gly214Ser	rs35262826	missense variant	-	NC_000006.12:g.158449092G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Tyr219Phe	rs138899998	missense variant	-	NC_000006.12:g.158449108A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro220Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158449111C>G	NCI-TCGA
TULP4	Q9NRJ4	p.Pro220Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158449111C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Ile221Asn	rs1462472442	missense variant	-	NC_000006.12:g.158449114T>A	TOPMed
TULP4	Q9NRJ4	p.Asp226Asn	rs1369996721	missense variant	-	NC_000006.12:g.158449128G>A	gnomAD
TULP4	Q9NRJ4	p.Ser227Gly	rs1227809607	missense variant	-	NC_000006.12:g.158449131A>G	gnomAD
TULP4	Q9NRJ4	p.Ser230Asn	rs777870429	missense variant	-	NC_000006.12:g.158449141G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp231Asn	rs1006286014	missense variant	-	NC_000006.12:g.158449143G>A	gnomAD
TULP4	Q9NRJ4	p.Thr232Met	rs1039105687	missense variant	-	NC_000006.12:g.158449147C>T	TOPMed
TULP4	Q9NRJ4	p.Ala238Thr	rs769888430	missense variant	-	NC_000006.12:g.158449164G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala238Gly	rs775488874	missense variant	-	NC_000006.12:g.158449165C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala238Asp	rs775488874	missense variant	-	NC_000006.12:g.158449165C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro244Leu	rs142539994	missense variant	-	NC_000006.12:g.158452140C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala246Ser	rs1417609499	missense variant	-	NC_000006.12:g.158452145G>T	gnomAD
TULP4	Q9NRJ4	p.Tyr247Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158452149A>G	NCI-TCGA
TULP4	Q9NRJ4	p.Pro248Ser	rs770829194	missense variant	-	NC_000006.12:g.158452151C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro248Thr	rs770829194	missense variant	-	NC_000006.12:g.158452151C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val251Met	rs1258758440	missense variant	-	NC_000006.12:g.158452160G>A	gnomAD
TULP4	Q9NRJ4	p.Gln252Arg	rs769848337	missense variant	-	NC_000006.12:g.158452164A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln252His	COSM3697635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158452165G>C	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ile254Met	rs775784871	missense variant	-	NC_000006.12:g.158452171C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu258Phe	rs762344675	missense variant	-	NC_000006.12:g.158452181C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Val260Ile	rs773509077	missense variant	-	NC_000006.12:g.158452187G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser261Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158452192C>G	NCI-TCGA
TULP4	Q9NRJ4	p.Ser261Asn	rs761118041	missense variant	-	NC_000006.12:g.158452191G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Phe262Leu	rs1481000397	missense variant	-	NC_000006.12:g.158452193T>C	TOPMed
TULP4	Q9NRJ4	p.Thr263Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158452196A>G	NCI-TCGA
TULP4	Q9NRJ4	p.Ser264Leu	rs150575694	missense variant	-	NC_000006.12:g.158452200C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp266Asn	rs1240069892	missense variant	-	NC_000006.12:g.158452205G>A	gnomAD
TULP4	Q9NRJ4	p.Ile267Val	rs1349905497	missense variant	-	NC_000006.12:g.158452208A>G	TOPMed
TULP4	Q9NRJ4	p.Asn272Ser	rs149734049	missense variant	-	NC_000006.12:g.158452224A>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn272Thr	rs149734049	missense variant	-	NC_000006.12:g.158452224A>C	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp274Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158452231T>G	NCI-TCGA
TULP4	Q9NRJ4	p.Asp274Asn	rs781290744	missense variant	-	NC_000006.12:g.158452229G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser277Phe	rs1419086687	missense variant	-	NC_000006.12:g.158452239C>T	gnomAD
TULP4	Q9NRJ4	p.Thr279Met	rs370464480	missense variant	-	NC_000006.12:g.158452245C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg282Cys	rs780090495	missense variant	-	NC_000006.12:g.158452253C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg282His	rs749569563	missense variant	-	NC_000006.12:g.158452254G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly284Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158452259G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Gly284Glu	rs1184436920	missense variant	-	NC_000006.12:g.158452260G>A	TOPMed
TULP4	Q9NRJ4	p.Lys286Glu	rs1432810405	missense variant	-	NC_000006.12:g.158452265A>G	gnomAD
TULP4	Q9NRJ4	p.Glu287Lys	rs774477796	missense variant	-	NC_000006.12:g.158452268G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Val289Leu	rs748162335	missense variant	-	NC_000006.12:g.158461568G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln291HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.158461576_158461597GTGGTGCACACAGGGGGACTTG>-	NCI-TCGA
TULP4	Q9NRJ4	p.Thr294Pro	rs773547692	missense variant	-	NC_000006.12:g.158461583A>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr294Ser	rs773547692	missense variant	-	NC_000006.12:g.158461583A>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr294Ile	rs1316703125	missense variant	-	NC_000006.12:g.158461584C>T	gnomAD
TULP4	Q9NRJ4	p.Ala302Thr	rs777122605	missense variant	-	NC_000006.12:g.158461607G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala302Ser	rs777122605	missense variant	-	NC_000006.12:g.158461607G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu305Val	rs762684227	missense variant	-	NC_000006.12:g.158461617A>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg306Gln	rs139423321	missense variant	-	NC_000006.12:g.158461620G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg306Trp	rs771310062	missense variant	-	NC_000006.12:g.158461619C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln307Glu	rs575849065	missense variant	-	NC_000006.12:g.158461622C>G	1000Genomes,gnomAD
TULP4	Q9NRJ4	p.Gln307Lys	rs575849065	missense variant	-	NC_000006.12:g.158461622C>A	1000Genomes,gnomAD
TULP4	Q9NRJ4	p.Thr308Ser	rs1166004213	missense variant	-	NC_000006.12:g.158461625A>T	gnomAD
TULP4	Q9NRJ4	p.Thr308Ser	rs569710000	missense variant	-	NC_000006.12:g.158461626C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr308Ile	rs569710000	missense variant	-	NC_000006.12:g.158461626C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu310Phe	rs1293284705	missense variant	-	NC_000006.12:g.158461631C>T	gnomAD
TULP4	Q9NRJ4	p.Leu310His	rs767103157	missense variant	-	NC_000006.12:g.158461632T>A	ExAC
TULP4	Q9NRJ4	p.Glu312Lys	rs1295220855	missense variant	-	NC_000006.12:g.158461637G>A	TOPMed
TULP4	Q9NRJ4	p.Pro314His	rs750292352	missense variant	-	NC_000006.12:g.158461644C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn315Asp	rs536921467	missense variant	-	NC_000006.12:g.158461646A>G	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn315His	rs536921467	missense variant	-	NC_000006.12:g.158461646A>C	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn315Ser	rs1339293129	missense variant	-	NC_000006.12:g.158461647A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly316Ser	rs554756587	missense variant	-	NC_000006.12:g.158461649G>A	1000Genomes,ExAC,TOPMed
TULP4	Q9NRJ4	p.Lys320Met	rs1428517884	missense variant	-	NC_000006.12:g.158461662A>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val324Ile	rs1170435749	missense variant	-	NC_000006.12:g.158461673G>A	TOPMed
TULP4	Q9NRJ4	p.Phe326Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158461681C>A	NCI-TCGA
TULP4	Q9NRJ4	p.Asn328Ser	rs777950286	missense variant	-	NC_000006.12:g.158461686A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg330Leu	rs774514456	missense variant	-	NC_000006.12:g.158461692G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg330Ser	rs145043798	missense variant	-	NC_000006.12:g.158461691C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg330His	rs774514456	missense variant	-	NC_000006.12:g.158461692G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile334Val	rs1262375941	missense variant	-	NC_000006.12:g.158461703A>G	gnomAD
TULP4	Q9NRJ4	p.Phe335Cys	rs1477577608	missense variant	-	NC_000006.12:g.158461707T>G	gnomAD
TULP4	Q9NRJ4	p.Asp338Tyr	COSM6105755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158461715G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Thr339Ile	rs1420361480	missense variant	-	NC_000006.12:g.158461719C>T	gnomAD
TULP4	Q9NRJ4	p.Leu340Phe	rs1403837682	missense variant	-	NC_000006.12:g.158461721C>T	gnomAD
TULP4	Q9NRJ4	p.Val341Met	rs746193160	missense variant	-	NC_000006.12:g.158461724G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg343Leu	rs377084462	missense variant	-	NC_000006.12:g.158479752G>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg343His	rs377084462	missense variant	-	NC_000006.12:g.158479752G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg343Cys	rs372249713	missense variant	-	NC_000006.12:g.158479751C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro344Ser	rs780632556	missense variant	-	NC_000006.12:g.158479754C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile345Val	rs747788632	missense variant	-	NC_000006.12:g.158479757A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile346Val	rs1015307681	missense variant	-	NC_000006.12:g.158479760A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile348Val	rs1213932594	missense variant	-	NC_000006.12:g.158479766A>G	gnomAD
TULP4	Q9NRJ4	p.His352Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158479778C>A	NCI-TCGA
TULP4	Q9NRJ4	p.Arg353Trp	rs772742406	missense variant	-	NC_000006.12:g.158479781C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg353Gln	rs369096090	missense variant	-	NC_000006.12:g.158479782G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp354Gly	rs770372195	missense variant	-	NC_000006.12:g.158479785A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser355Leu	rs776528000	missense variant	-	NC_000006.12:g.158479788C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala360Thr	rs775324726	missense variant	-	NC_000006.12:g.158479802G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala360Val	rs1402596308	missense variant	-	NC_000006.12:g.158479803C>T	TOPMed
TULP4	Q9NRJ4	p.Ser361Leu	COSM3860051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158479806C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Val367Met	rs1208220438	missense variant	-	NC_000006.12:g.158479823G>A	gnomAD
TULP4	Q9NRJ4	p.Val368Leu	rs764334620	missense variant	-	NC_000006.12:g.158479826G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg369Cys	COSM3022779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158479829C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Arg369His	rs757333877	missense variant	-	NC_000006.12:g.158479830G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg373Gln	rs151289701	missense variant	-	NC_000006.12:g.158479842G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg373Trp	rs374879139	missense variant	-	NC_000006.12:g.158479841C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val374Met	rs749598254	missense variant	-	NC_000006.12:g.158479844G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val374Leu	rs749598254	missense variant	-	NC_000006.12:g.158479844G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser376Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158479851G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Ser376Thr	rs1237730449	missense variant	-	NC_000006.12:g.158479851G>C	gnomAD
TULP4	Q9NRJ4	p.Gln382Ter	COSM3920993	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158479868C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Gln383His	rs140551958	missense variant	-	NC_000006.12:g.158479873G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala384Val	rs770396603	missense variant	-	NC_000006.12:g.158479875C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ile385Val	rs1457723262	missense variant	-	NC_000006.12:g.158479877A>G	TOPMed
TULP4	Q9NRJ4	p.Ala386Thr	rs1421032856	missense variant	-	NC_000006.12:g.158479880G>A	gnomAD
TULP4	Q9NRJ4	p.Ser387Cys	COSM740253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158479883A>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ser387Gly	rs745795781	missense variant	-	NC_000006.12:g.158479883A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg390His	rs150475135	missense variant	-	NC_000006.12:g.158479893G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg390Ser	rs369232657	missense variant	-	NC_000006.12:g.158479892C>A	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg390Leu	rs150475135	missense variant	-	NC_000006.12:g.158479893G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg390Cys	rs369232657	missense variant	-	NC_000006.12:g.158479892C>T	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp392Glu	rs536877214	missense variant	-	NC_000006.12:g.158479900C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Lys393Gln	rs1321312576	missense variant	-	NC_000006.12:g.158479901A>C	gnomAD
TULP4	Q9NRJ4	p.Asp394Asn	rs559917663	missense variant	-	NC_000006.12:g.158479904G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp394Glu	rs1431431459	missense variant	-	NC_000006.12:g.158479906C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val395Ile	rs138487081	missense variant	-	NC_000006.12:g.158479907G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser396Gly	rs1342464104	missense variant	-	NC_000006.12:g.158479910A>G	gnomAD
TULP4	Q9NRJ4	p.Pro402Arg	rs145013915	missense variant	-	NC_000006.12:g.158479929C>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro402Leu	rs145013915	missense variant	-	NC_000006.12:g.158479929C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro402His	rs145013915	missense variant	-	NC_000006.12:g.158479929C>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg403Gly	rs746673748	missense variant	-	NC_000006.12:g.158479931C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg403Cys	rs746673748	missense variant	-	NC_000006.12:g.158479931C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg403Ser	rs746673748	missense variant	-	NC_000006.12:g.158479931C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg403AlaPheSerTerUnkUnk	rs746002490	frameshift	-	NC_000006.12:g.158479925C>-	NCI-TCGA,NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ser406Tyr	rs1265957995	missense variant	-	NC_000006.12:g.158479941C>A	gnomAD
TULP4	Q9NRJ4	p.Tyr407Cys	rs780838821	missense variant	-	NC_000006.12:g.158479944A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu408Val	rs1192265578	missense variant	-	NC_000006.12:g.158479946C>G	gnomAD
TULP4	Q9NRJ4	p.Ser409Cys	rs527286687	missense variant	-	NC_000006.12:g.158479950C>G	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr410Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158479953C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Thr410Ala	rs201169090	missense variant	-	NC_000006.12:g.158479952A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Phe412Leu	rs1401012935	missense variant	-	NC_000006.12:g.158479958T>C	gnomAD
TULP4	Q9NRJ4	p.Pro414Leu	rs1398284747	missense variant	-	NC_000006.12:g.158479965C>T	gnomAD
TULP4	Q9NRJ4	p.Pro414Ser	rs749219648	missense variant	-	NC_000006.12:g.158479964C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr415Ala	COSM3860052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158479967A>G	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ile416Val	rs1356130973	missense variant	-	NC_000006.12:g.158479970A>G	gnomAD
TULP4	Q9NRJ4	p.Lys417Arg	rs778454563	missense variant	-	NC_000006.12:g.158479974A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro419Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158481058C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Ile420Thr	rs1340065890	missense variant	-	NC_000006.12:g.158481062T>C	gnomAD
TULP4	Q9NRJ4	p.Ile420Val	rs367711119	missense variant	-	NC_000006.12:g.158481061A>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro423Leu	rs138863746	missense variant	-	NC_000006.12:g.158481071C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn425Ser	rs768420282	missense variant	-	NC_000006.12:g.158481077A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Met426Thr	rs778913391	missense variant	-	NC_000006.12:g.158481080T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Met426Val	rs1236055778	missense variant	-	NC_000006.12:g.158481079A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg427Thr	COSM6173039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158481083G>C	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Asp428Glu	rs772012816	missense variant	-	NC_000006.12:g.158481087C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp428Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158481085G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Val430Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158481091G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Val430Ala	rs761019273	missense variant	-	NC_000006.12:g.158481092T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser434Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158481104C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Ala435Ser	rs771039403	missense variant	-	NC_000006.12:g.158481106G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly436Ser	rs553588228	missense variant	-	NC_000006.12:g.158481109G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn437His	rs765599196	missense variant	-	NC_000006.12:g.158481112A>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn437Lys	rs549860418	missense variant	-	NC_000006.12:g.158481114C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu438Lys	rs763279596	missense variant	-	NC_000006.12:g.158481115G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Glu438Gln	rs763279596	missense variant	-	NC_000006.12:g.158481115G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg439Gln	rs371117270	missense variant	-	NC_000006.12:g.158481119G>A	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg439Trp	rs750067930	missense variant	-	NC_000006.12:g.158481118C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.His441Arg	rs779770081	missense variant	-	NC_000006.12:g.158481125A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Met444Val	rs376271444	missense variant	-	NC_000006.12:g.158481133A>G	ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met444Leu	rs376271444	missense variant	-	NC_000006.12:g.158481133A>T	ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg446His	rs753219213	missense variant	-	NC_000006.12:g.158481140G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg446Cys	rs1333534414	missense variant	-	NC_000006.12:g.158481139C>T	gnomAD
TULP4	Q9NRJ4	p.Glu448Gly	rs754545854	missense variant	-	NC_000006.12:g.158481146A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp449Gly	rs778665255	missense variant	-	NC_000006.12:g.158481149A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp450Asn	rs748147077	missense variant	-	NC_000006.12:g.158481151G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro451Leu	rs201257857	missense variant	-	NC_000006.12:g.158481155C>T	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro451Ser	rs1200162536	missense variant	-	NC_000006.12:g.158481154C>T	gnomAD
TULP4	Q9NRJ4	p.Glu452Val	rs903657785	missense variant	-	NC_000006.12:g.158481158A>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val453Ala	COSM6173038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158481161T>C	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Gly454Ser	rs747221264	missense variant	-	NC_000006.12:g.158481163G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly455Asp	rs1228890726	missense variant	-	NC_000006.12:g.158481167G>A	TOPMed
TULP4	Q9NRJ4	p.Gly455Ser	rs771004127	missense variant	-	NC_000006.12:g.158481166G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro456Arg	rs776920426	missense variant	-	NC_000006.12:g.158481170C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro456Leu	rs776920426	missense variant	-	NC_000006.12:g.158481170C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr459SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.158481179C>-	NCI-TCGA
TULP4	Q9NRJ4	p.Thr459Met	rs200691398	missense variant	-	NC_000006.12:g.158481179C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr459Arg	rs200691398	missense variant	-	NC_000006.12:g.158481179C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu460Phe	rs1351181379	missense variant	-	NC_000006.12:g.158481181C>T	TOPMed
TULP4	Q9NRJ4	p.Tyr461His	rs762241882	missense variant	-	NC_000006.12:g.158481184T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu462Arg	rs1007854517	missense variant	-	NC_000006.12:g.158481188T>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu465Val	rs1163260175	missense variant	-	NC_000006.12:g.158481196C>G	TOPMed
TULP4	Q9NRJ4	p.Arg475Trp	rs757109055	missense variant	-	NC_000006.12:g.158481226C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg475Gln	rs374889085	missense variant	-	NC_000006.12:g.158481227G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg476His	rs1157115722	missense variant	-	NC_000006.12:g.158481230G>A	gnomAD
TULP4	Q9NRJ4	p.Arg476Cys	rs1478225601	missense variant	-	NC_000006.12:g.158481229C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile477Val	rs1195890495	missense variant	-	NC_000006.12:g.158481232A>G	gnomAD
TULP4	Q9NRJ4	p.Lys479Asn	rs769756206	missense variant	-	NC_000006.12:g.158481240G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys479Arg	rs746140045	missense variant	-	NC_000006.12:g.158481239A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg481Gln	COSM5152524	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158481245G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Arg481Trp	rs753531085	missense variant	-	NC_000006.12:g.158481244C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu483Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158481250G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Val485Ile	rs749380819	missense variant	-	NC_000006.12:g.158481256G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile486Val	rs544627542	missense variant	-	NC_000006.12:g.158481259A>G	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met487Leu	rs1401360589	missense variant	-	NC_000006.12:g.158481262A>C	gnomAD
TULP4	Q9NRJ4	p.Met487Ile	rs1275784512	missense variant	-	NC_000006.12:g.158481264G>T	gnomAD
TULP4	Q9NRJ4	p.Asp488His	rs563190035	missense variant	-	NC_000006.12:g.158481265G>C	1000Genomes
TULP4	Q9NRJ4	p.Pro489Leu	rs762032568	missense variant	-	NC_000006.12:g.158481269C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro489Ser	rs1339230296	missense variant	-	NC_000006.12:g.158481268C>T	gnomAD
TULP4	Q9NRJ4	p.Arg490Leu	rs1243789519	missense variant	-	NC_000006.12:g.158481272G>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg490Gln	rs1243789519	missense variant	-	NC_000006.12:g.158481272G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg490Trp	rs201805785	missense variant	-	NC_000006.12:g.158481271C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp492Asn	COSM3622373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158481277G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ser493Asn	rs144739382	missense variant	-	NC_000006.12:g.158481281G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser493Arg	rs1370936337	missense variant	-	NC_000006.12:g.158481282C>A	TOPMed
TULP4	Q9NRJ4	p.Lys494Gln	rs148234867	missense variant	-	NC_000006.12:g.158481283A>C	ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu497Val	rs1279125219	missense variant	-	NC_000006.12:g.158489591A>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile498Val	rs199636990	missense variant	-	NC_000006.12:g.158489593A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Tyr499Cys	rs748591913	missense variant	-	NC_000006.12:g.158489597A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu503Phe	rs747653067	missense variant	-	NC_000006.12:g.158489610G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ile504Met	COSM4839010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158489613T>G	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ser505Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158489615C>A	NCI-TCGA
TULP4	Q9NRJ4	p.Thr506Asn	rs1224444454	missense variant	-	NC_000006.12:g.158489618C>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr506Ile	rs1224444454	missense variant	-	NC_000006.12:g.158489618C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr506Ala	rs1452481317	missense variant	-	NC_000006.12:g.158489617A>G	gnomAD
TULP4	Q9NRJ4	p.Val507Ala	rs141271573	missense variant	-	NC_000006.12:g.158489621T>C	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val507Met	rs1479849470	missense variant	-	NC_000006.12:g.158489620G>A	gnomAD
TULP4	Q9NRJ4	p.Ile508Thr	rs1425089347	missense variant	-	NC_000006.12:g.158489624T>C	gnomAD
TULP4	Q9NRJ4	p.Ile508Met	rs1476653870	missense variant	-	NC_000006.12:g.158489625C>G	gnomAD
TULP4	Q9NRJ4	p.Asp509His	rs371686812	missense variant	-	NC_000006.12:g.158489626G>C	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp509Asn	rs371686812	missense variant	-	NC_000006.12:g.158489626G>A	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser510Gly	rs1391207193	missense variant	-	NC_000006.12:g.158489629A>G	gnomAD
TULP4	Q9NRJ4	p.Asn512Ser	rs762737646	missense variant	-	NC_000006.12:g.158489636A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser517Arg	rs1299848842	missense variant	-	NC_000006.12:g.158489650A>C	TOPMed
TULP4	Q9NRJ4	p.Ile519Val	rs1052243578	missense variant	-	NC_000006.12:g.158489656A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile519Thr	rs761229271	missense variant	-	NC_000006.12:g.158489657T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser522Asn	rs12206717	missense variant	-	NC_000006.12:g.158489666G>A	UniProt,dbSNP
TULP4	Q9NRJ4	p.Ser522Asn	VAR_052418	missense variant	-	NC_000006.12:g.158489666G>A	UniProt
TULP4	Q9NRJ4	p.Ser522Asn	rs12206717	missense variant	-	NC_000006.12:g.158489666G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp523Gly	rs750349343	missense variant	-	NC_000006.12:g.158489669A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala527Val	rs566110555	missense variant	-	NC_000006.12:g.158489681C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Lys528Asn	COSM1075424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158489685G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ser530Pro	rs1357579838	missense variant	-	NC_000006.12:g.158489689T>C	gnomAD
TULP4	Q9NRJ4	p.Ser530Phe	COSM3622374	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158489690C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro531Ser	rs139803752	missense variant	-	NC_000006.12:g.158489692C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Lys532Gln	rs766200192	missense variant	-	NC_000006.12:g.158489695A>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser534Thr	rs754053321	missense variant	-	NC_000006.12:g.158489701T>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser537Asn	rs61742077	missense variant	-	NC_000006.12:g.158489711G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser537Arg	rs765393754	missense variant	-	NC_000006.12:g.158489712C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys538Thr	rs147152538	missense variant	-	NC_000006.12:g.158489714A>C	ESP
TULP4	Q9NRJ4	p.Lys541Arg	rs752755828	missense variant	-	NC_000006.12:g.158489723A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys541Glu	COSM73170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158489722A>G	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Lys541Gln	rs1192103554	missense variant	-	NC_000006.12:g.158489722A>C	gnomAD
TULP4	Q9NRJ4	p.Pro543Leu	rs1161215196	missense variant	-	NC_000006.12:g.158489729C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg544Lys	rs1281336831	missense variant	-	NC_000006.12:g.158489732G>A	TOPMed
TULP4	Q9NRJ4	p.Ser546Arg	rs758485455	missense variant	-	NC_000006.12:g.158493579C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ile547Thr	rs200678787	missense variant	-	NC_000006.12:g.158493581T>C	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu548Gln	COSM6173037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158493583G>C	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ala549Thr	rs1158093109	missense variant	-	NC_000006.12:g.158493586G>A	gnomAD
TULP4	Q9NRJ4	p.Arg550Leu	rs371491042	missense variant	-	NC_000006.12:g.158493590G>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg550Cys	rs200035868	missense variant	-	NC_000006.12:g.158493589C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg550His	rs371491042	missense variant	-	NC_000006.12:g.158493590G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro553His	rs1427738325	missense variant	-	NC_000006.12:g.158493599C>A	TOPMed
TULP4	Q9NRJ4	p.Lys554Arg	rs887767409	missense variant	-	NC_000006.12:g.158493602A>G	TOPMed
TULP4	Q9NRJ4	p.Pro556His	rs746192901	missense variant	-	NC_000006.12:g.158493608C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg557Trp	rs140306537	missense variant	-	NC_000006.12:g.158493610C>T	ESP,gnomAD
TULP4	Q9NRJ4	p.Arg557Gln	rs748375243	missense variant	-	NC_000006.12:g.158493611G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg557Leu	rs748375243	missense variant	-	NC_000006.12:g.158493611G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser563ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.158493625_158493626CT>-	NCI-TCGA
TULP4	Q9NRJ4	p.Arg564Trp	rs771607306	missense variant	-	NC_000006.12:g.158493631C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg564Gln	rs1346424120	missense variant	-	NC_000006.12:g.158493632G>A	gnomAD
TULP4	Q9NRJ4	p.Arg567Leu	COSM6105754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158493641G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Arg567Trp	rs1262105765	missense variant	-	NC_000006.12:g.158493640C>T	gnomAD
TULP4	Q9NRJ4	p.Arg567Gln	rs746537100	missense variant	-	NC_000006.12:g.158493641G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg567Gln	rs746537100	missense variant	-	NC_000006.12:g.158493641G>A	NCI-TCGA,NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro569Leu	rs776583095	missense variant	-	NC_000006.12:g.158493647C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg571His	rs149680271	missense variant	-	NC_000006.12:g.158493653G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg571Cys	COSM316313	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158493652C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Lys572Met	rs1199409058	missense variant	-	NC_000006.12:g.158493656A>T	gnomAD
TULP4	Q9NRJ4	p.Gly576Asp	rs751618718	missense variant	-	NC_000006.12:g.158493668G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly576Cys	rs150873405	missense variant	-	NC_000006.12:g.158493667G>T	1000Genomes,ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly576Ser	rs150873405	missense variant	-	NC_000006.12:g.158493667G>A	1000Genomes,ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser577Leu	rs1391326303	missense variant	-	NC_000006.12:g.158493671C>T	gnomAD
TULP4	Q9NRJ4	p.Arg582Gln	rs756467792	missense variant	-	NC_000006.12:g.158493686G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg582Trp	rs751015565	missense variant	-	NC_000006.12:g.158493685C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu584Val	rs780349220	missense variant	-	NC_000006.12:g.158493692A>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro586Arg	rs752381396	missense variant	-	NC_000006.12:g.158493698C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro586Ser	COSM4396504	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158493697C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro586His	rs752381396	missense variant	-	NC_000006.12:g.158493698C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ile590Val	rs746484353	missense variant	-	NC_000006.12:g.158493709A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr591Ala	rs770451738	missense variant	-	NC_000006.12:g.158493712A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.His593Tyr	rs780750624	missense variant	-	NC_000006.12:g.158494753C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Tyr595Cys	rs535814004	missense variant	-	NC_000006.12:g.158494760A>G	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Tyr595Ser	rs535814004	missense variant	-	NC_000006.12:g.158494760A>C	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala597Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158494766C>A	NCI-TCGA
TULP4	Q9NRJ4	p.Ala597Gly	rs1245163706	missense variant	-	NC_000006.12:g.158494766C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln598His	rs1445880586	missense variant	-	NC_000006.12:g.158494770G>T	TOPMed
TULP4	Q9NRJ4	p.Gln598Arg	COSM3829549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158494769A>G	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Gln598Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.158494768C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Thr600Met	COSM1075425	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158494775C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ser601Ala	rs768617345	missense variant	-	NC_000006.12:g.158494777T>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn602Ser	rs1475444215	missense variant	-	NC_000006.12:g.158494781A>G	gnomAD
TULP4	Q9NRJ4	p.Gly605Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.158494789G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Thr606Pro	rs1396304189	missense variant	-	NC_000006.12:g.158494792A>C	TOPMed
TULP4	Q9NRJ4	p.Thr606Asn	rs1240628969	missense variant	-	NC_000006.12:g.158494793C>A	gnomAD
TULP4	Q9NRJ4	p.Lys607Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158494797A>C	NCI-TCGA
TULP4	Q9NRJ4	p.Ala614Thr	rs1485683713	missense variant	-	NC_000006.12:g.158494816G>A	gnomAD
TULP4	Q9NRJ4	p.Ala614Asp	rs774681883	missense variant	-	NC_000006.12:g.158494817C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala615Val	rs762190460	missense variant	-	NC_000006.12:g.158494820C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Phe616Leu	rs772265969	missense variant	-	NC_000006.12:g.158494824C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Phe616Leu	rs1183591312	missense variant	-	NC_000006.12:g.158494822T>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro618Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158494828C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Thr619Ala	rs766755286	missense variant	-	NC_000006.12:g.158494831A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn620Ser	rs777218871	missense variant	-	NC_000006.12:g.158494835A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn620Lys	rs759798360	missense variant	-	NC_000006.12:g.158494836C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala623Thr	rs1451640662	missense variant	-	NC_000006.12:g.158494843G>A	gnomAD
TULP4	Q9NRJ4	p.Ile625Phe	rs541828029	missense variant	-	NC_000006.12:g.158498671A>T	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Ile625Val	rs541828029	missense variant	-	NC_000006.12:g.158498671A>G	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Ile625Thr	rs753703206	missense variant	-	NC_000006.12:g.158498672T>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro635Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158498702C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Arg636Trp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158498704C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Arg636Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158498705G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Gln637Arg	COSM270480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158498708A>G	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Val645Ile	rs1422654146	missense variant	-	NC_000006.12:g.158498731G>A	TOPMed
TULP4	Q9NRJ4	p.Val645Ala	rs1350378763	missense variant	-	NC_000006.12:g.158498732T>C	gnomAD
TULP4	Q9NRJ4	p.Arg646Trp	rs142940235	missense variant	-	NC_000006.12:g.158498734C>T	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg646Gln	rs527631392	missense variant	-	NC_000006.12:g.158498735G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Lys647Arg	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158498738A>G	NCI-TCGA
TULP4	Q9NRJ4	p.Ile648Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158498742T>G	NCI-TCGA
TULP4	Q9NRJ4	p.Ile648Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158498740A>C	NCI-TCGA
TULP4	Q9NRJ4	p.Ser649Pro	rs146628860	missense variant	-	NC_000006.12:g.158498743T>C	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met650Val	rs745964477	missense variant	-	NC_000006.12:g.158498746A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met650Leu	rs745964477	missense variant	-	NC_000006.12:g.158498746A>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp651Asn	COSM3860056	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158498749G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Tyr652Cys	rs1279059309	missense variant	-	NC_000006.12:g.158498753A>G	gnomAD
TULP4	Q9NRJ4	p.Asn654Ser	rs770222927	missense variant	-	NC_000006.12:g.158498759A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro660Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158498776C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Ser664Thr	rs920300732	missense variant	-	NC_000006.12:g.158498789G>C	TOPMed
TULP4	Q9NRJ4	p.Glu665Asp	rs935492578	missense variant	-	NC_000006.12:g.158498793A>C	TOPMed
TULP4	Q9NRJ4	p.Asp666Gly	rs763277831	missense variant	-	NC_000006.12:g.158498795A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp668Tyr	rs772732410	missense variant	-	NC_000006.12:g.158498800G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp669Glu	rs760431465	missense variant	-	NC_000006.12:g.158498805T>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro671Ser	rs1490040503	missense variant	-	NC_000006.12:g.158498809C>T	gnomAD
TULP4	Q9NRJ4	p.Thr673Ile	rs770577376	missense variant	-	NC_000006.12:g.158501681C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly674Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158501684G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Gly677Asp	rs374310070	missense variant	-	NC_000006.12:g.158501693G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro679Leu	rs367867177	missense variant	-	NC_000006.12:g.158501699C>T	ESP,TOPMed
TULP4	Q9NRJ4	p.Glu680Asp	COSM1075427	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158501703G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro684Thr	rs1018145381	missense variant	-	NC_000006.12:g.158501713C>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val687Met	rs763008697	missense variant	-	NC_000006.12:g.158501722G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile691Thr	COSM450809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158501735T>C	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.His695Arg	rs553265161	missense variant	-	NC_000006.12:g.158501747A>G	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser696Arg	rs1429761789	missense variant	-	NC_000006.12:g.158501751C>G	TOPMed
TULP4	Q9NRJ4	p.Ser697Leu	rs577929133	missense variant	-	NC_000006.12:g.158501753C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala698Val	rs756178566	missense variant	-	NC_000006.12:g.158501756C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Met701Val	rs780163148	missense variant	-	NC_000006.12:g.158501764A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser702Pro	rs749381173	missense variant	-	NC_000006.12:g.158501767T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro703Ser	rs1485774350	missense variant	-	NC_000006.12:g.158501770C>T	TOPMed
TULP4	Q9NRJ4	p.Thr704Met	rs748496837	missense variant	-	NC_000006.12:g.158501774C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln705Arg	rs1225135825	missense variant	-	NC_000006.12:g.158501777A>G	TOPMed
TULP4	Q9NRJ4	p.Ser706Asn	rs772371588	missense variant	-	NC_000006.12:g.158501780G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile707Thr	rs745584739	missense variant	-	NC_000006.12:g.158501783T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly708Ala	rs1405730748	missense variant	-	NC_000006.12:g.158501786G>C	gnomAD
TULP4	Q9NRJ4	p.Val710Leu	rs769418143	missense variant	-	NC_000006.12:g.158501791G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln711Arg	rs775084559	missense variant	-	NC_000006.12:g.158501795A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala715Val	rs1351236633	missense variant	-	NC_000006.12:g.158501807C>T	gnomAD
TULP4	Q9NRJ4	p.Val719Met	rs1275119565	missense variant	-	NC_000006.12:g.158501818G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu721Pro	rs1221261270	missense variant	-	NC_000006.12:g.158501825T>C	gnomAD
TULP4	Q9NRJ4	p.Thr728Met	rs372165583	missense variant	-	NC_000006.12:g.158501846C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala730Gly	rs767363595	missense variant	-	NC_000006.12:g.158501852C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala730Pro	rs761633422	missense variant	-	NC_000006.12:g.158501851G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala730Val	rs767363595	missense variant	-	NC_000006.12:g.158501852C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val731Ile	rs377659848	missense variant	-	NC_000006.12:g.158501854G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly732Arg	rs756268522	missense variant	-	NC_000006.12:g.158501857G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly732Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158501858G>C	NCI-TCGA
TULP4	Q9NRJ4	p.Gly732Glu	rs1364638915	missense variant	-	NC_000006.12:g.158501858G>A	TOPMed
TULP4	Q9NRJ4	p.Thr733Ile	rs766591076	missense variant	-	NC_000006.12:g.158501861C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala737Gly	rs542351754	missense variant	-	NC_000006.12:g.158501873C>G	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala737Val	rs542351754	missense variant	-	NC_000006.12:g.158501873C>T	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly738Ser	rs779453019	missense variant	-	NC_000006.12:g.158501875G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp739Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158501878G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Ala741Val	rs1038358222	missense variant	-	NC_000006.12:g.158501885C>T	TOPMed
TULP4	Q9NRJ4	p.Ala741Thr	rs375562716	missense variant	-	NC_000006.12:g.158501884G>A	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Tyr744Phe	rs1391270469	missense variant	-	NC_000006.12:g.158501894A>T	gnomAD
TULP4	Q9NRJ4	p.Pro745Leu	rs1346777862	missense variant	-	NC_000006.12:g.158501897C>T	gnomAD
TULP4	Q9NRJ4	p.Ser747Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158501903C>G	NCI-TCGA
TULP4	Q9NRJ4	p.Asn748Ser	rs769506508	missense variant	-	NC_000006.12:g.158501906A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg749Trp	rs1001444867	missense variant	-	NC_000006.12:g.158501908C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg749Gln	rs775316063	missense variant	-	NC_000006.12:g.158501909G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser751Tyr	rs141473493	missense variant	-	NC_000006.12:g.158501915C>A	ESP,TOPMed
TULP4	Q9NRJ4	p.Ser751Thr	rs748787269	missense variant	-	NC_000006.12:g.158501914T>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn752Ile	rs1338705878	missense variant	-	NC_000006.12:g.158501918A>T	gnomAD
TULP4	Q9NRJ4	p.Pro753Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158501921C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Pro753Ser	rs774337708	missense variant	-	NC_000006.12:g.158501920C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Val756Met	rs1490611037	missense variant	-	NC_000006.12:g.158501929G>A	TOPMed
TULP4	Q9NRJ4	p.Gly759Arg	rs760492393	missense variant	-	NC_000006.12:g.158501938G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Val761Met	rs369570435	missense variant	-	NC_000006.12:g.158501944G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met763Ile	rs755055501	missense variant	-	NC_000006.12:g.158501952G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly764Ser	rs1461923423	missense variant	-	NC_000006.12:g.158501953G>A	gnomAD
TULP4	Q9NRJ4	p.Arg765Cys	rs201414647	missense variant	-	NC_000006.12:g.158501956C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg765His	rs200671698	missense variant	-	NC_000006.12:g.158501957G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile766Val	rs1302202214	missense variant	-	NC_000006.12:g.158501959A>G	gnomAD
TULP4	Q9NRJ4	p.Ile767Ser	rs778431472	missense variant	-	NC_000006.12:g.158501963T>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn769Lys	rs1246702119	missense variant	-	NC_000006.12:g.158501970C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn769Lys	rs1246702119	missense variant	-	NC_000006.12:g.158501970C>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn769Tyr	rs1293185919	missense variant	-	NC_000006.12:g.158501968A>T	gnomAD
TULP4	Q9NRJ4	p.Asn769Thr	rs757723385	missense variant	-	NC_000006.12:g.158501969A>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro770Ser	rs779835091	missense variant	-	NC_000006.12:g.158501971C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro770Leu	rs1361729360	missense variant	-	NC_000006.12:g.158501972C>T	gnomAD
TULP4	Q9NRJ4	p.Pro770Thr	rs779835091	missense variant	-	NC_000006.12:g.158501971C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro771Thr	rs1291063349	missense variant	-	NC_000006.12:g.158501974C>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro771Arg	rs768196847	missense variant	-	NC_000006.12:g.158501975C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro771Leu	rs768196847	missense variant	-	NC_000006.12:g.158501975C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro771Ser	rs1291063349	missense variant	-	NC_000006.12:g.158501974C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro772Ser	rs1260100908	missense variant	-	NC_000006.12:g.158501977C>T	gnomAD
TULP4	Q9NRJ4	p.Leu773Val	rs747695489	missense variant	-	NC_000006.12:g.158501980C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser774Pro	rs563523785	missense variant	-	NC_000006.12:g.158501983T>C	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro777Ser	rs1162413383	missense variant	-	NC_000006.12:g.158501992C>T	gnomAD
TULP4	Q9NRJ4	p.Pro777Leu	rs1345199780	missense variant	-	NC_000006.12:g.158501993C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro777Arg	rs1345199780	missense variant	-	NC_000006.12:g.158501993C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro778Ser	COSM3622376	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158501995C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro778Leu	rs146775344	missense variant	-	NC_000006.12:g.158501996C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro778Arg	rs146775344	missense variant	-	NC_000006.12:g.158501996C>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro779Leu	rs765498716	missense variant	-	NC_000006.12:g.158501999C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln780Arg	rs1317132520	missense variant	-	NC_000006.12:g.158502002A>G	gnomAD
TULP4	Q9NRJ4	p.Gly781Arg	rs764652771	missense variant	-	NC_000006.12:g.158502004G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Met783Ile	rs752147721	missense variant	-	NC_000006.12:g.158502012G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln784His	rs1198103249	missense variant	-	NC_000006.12:g.158502015G>C	TOPMed
TULP4	Q9NRJ4	p.Thr787Met	rs150422279	missense variant	-	NC_000006.12:g.158502023C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr787Ala	rs1391050838	missense variant	-	NC_000006.12:g.158502022A>G	gnomAD
TULP4	Q9NRJ4	p.Val788Met	rs750807378	missense variant	-	NC_000006.12:g.158502025G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val788Leu	rs750807378	missense variant	-	NC_000006.12:g.158502025G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly789Ser	rs778651745	missense variant	-	NC_000006.12:g.158502028G>A	ExAC
TULP4	Q9NRJ4	p.Gly789Cys	COSM1075429	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502028G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.His790Gln	rs747618579	missense variant	-	NC_000006.12:g.158502033T>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly791Arg	rs537043044	missense variant	-	NC_000006.12:g.158502034G>C	gnomAD
TULP4	Q9NRJ4	p.Gly791Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502035G>C	NCI-TCGA
TULP4	Q9NRJ4	p.Gly791Arg	rs537043044	missense variant	-	NC_000006.12:g.158502034G>A	gnomAD
TULP4	Q9NRJ4	p.Asp792Gly	rs1443334925	missense variant	-	NC_000006.12:g.158502038A>G	gnomAD
TULP4	Q9NRJ4	p.Arg793Gln	rs771610737	missense variant	-	NC_000006.12:g.158502041G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.His795Gln	rs373496007	missense variant	-	NC_000006.12:g.158502048C>G	1000Genomes,ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Glu796Lys	rs1224022984	missense variant	-	NC_000006.12:g.158502049G>A	TOPMed
TULP4	Q9NRJ4	p.His797Gln	rs1362834473	missense variant	-	NC_000006.12:g.158502054C>A	gnomAD
TULP4	Q9NRJ4	p.His797Leu	rs770707193	missense variant	-	NC_000006.12:g.158502053A>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln799Glu	rs1291341713	missense variant	-	NC_000006.12:g.158502058C>G	gnomAD
TULP4	Q9NRJ4	p.Gln799Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.158502058C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Lys800Met	rs776221213	missense variant	-	NC_000006.12:g.158502062A>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys800Glu	rs1338490078	missense variant	-	NC_000006.12:g.158502061A>G	gnomAD
TULP4	Q9NRJ4	p.Ser801Leu	rs1298666012	missense variant	-	NC_000006.12:g.158502065C>T	gnomAD
TULP4	Q9NRJ4	p.Ala802Val	rs922168133	missense variant	-	NC_000006.12:g.158502068C>T	-
TULP4	Q9NRJ4	p.Ala804Val	COSM5724804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502074C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ala804Thr	rs375609118	missense variant	-	NC_000006.12:g.158502073G>A	ESP,gnomAD
TULP4	Q9NRJ4	p.Arg806Gln	rs764313685	missense variant	-	NC_000006.12:g.158502080G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg806Trp	rs534676989	missense variant	-	NC_000006.12:g.158502079C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr808Ala	rs752112650	missense variant	-	NC_000006.12:g.158502085A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro809Thr	rs138229082	missense variant	-	NC_000006.12:g.158502088C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro809Leu	rs199894898	missense variant	-	NC_000006.12:g.158502089C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln810Glu	rs764765955	missense variant	-	NC_000006.12:g.158502091C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala812Val	rs1427012098	missense variant	-	NC_000006.12:g.158502098C>T	gnomAD
TULP4	Q9NRJ4	p.Ala813Val	rs1469097121	missense variant	-	NC_000006.12:g.158502101C>T	gnomAD
TULP4	Q9NRJ4	p.Asp816Glu	rs151253671	missense variant	-	NC_000006.12:g.158502111C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp816Gly	rs1479422149	missense variant	-	NC_000006.12:g.158502110A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala817Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502112G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Ala817Thr	rs777331493	missense variant	-	NC_000006.12:g.158502112G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser821Ile	rs1285429061	missense variant	-	NC_000006.12:g.158502125G>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser821Asn	rs1285429061	missense variant	-	NC_000006.12:g.158502125G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser821Gly	rs370813346	missense variant	-	NC_000006.12:g.158502124A>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala822Val	rs781208870	missense variant	-	NC_000006.12:g.158502128C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro823Ser	rs745606459	missense variant	-	NC_000006.12:g.158502130C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro823Thr	rs745606459	missense variant	-	NC_000006.12:g.158502130C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln824ProPheSerTerUnkUnk	COSM1441865	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502127_158502128insC	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Gln824ArgPheSerTerUnk	COSM1441866	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502128C>-	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Gln827His	rs775828886	missense variant	-	NC_000006.12:g.158502144G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val828Leu	rs747790615	missense variant	-	NC_000006.12:g.158502145G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr829Met	rs769007655	missense variant	-	NC_000006.12:g.158502149C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Lys830Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502153G>C	NCI-TCGA
TULP4	Q9NRJ4	p.Pro834Leu	rs1186921449	missense variant	-	NC_000006.12:g.158502164C>T	gnomAD
TULP4	Q9NRJ4	p.Pro835Ala	rs199951730	missense variant	-	NC_000006.12:g.158502166C>G	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro835Ser	rs199951730	missense variant	-	NC_000006.12:g.158502166C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro836Ala	rs746814656	missense variant	-	NC_000006.12:g.158502169C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro836Gln	rs760926230	missense variant	-	NC_000006.12:g.158502170C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro836Ser	rs746814656	missense variant	-	NC_000006.12:g.158502169C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro836Leu	rs760926230	missense variant	-	NC_000006.12:g.158502170C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro838Ala	rs1305245876	missense variant	-	NC_000006.12:g.158502175C>G	gnomAD
TULP4	Q9NRJ4	p.Pro838Ser	rs1305245876	missense variant	-	NC_000006.12:g.158502175C>T	gnomAD
TULP4	Q9NRJ4	p.Gly839Glu	rs752341487	missense variant	-	NC_000006.12:g.158502179G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro842Ser	rs1402850096	missense variant	-	NC_000006.12:g.158502187C>T	TOPMed
TULP4	Q9NRJ4	p.Ala843Val	rs1158368747	missense variant	-	NC_000006.12:g.158502191C>T	TOPMed
TULP4	Q9NRJ4	p.Ala843Thr	rs376485331	missense variant	-	NC_000006.12:g.158502190G>A	gnomAD
TULP4	Q9NRJ4	p.Ala843Ser	rs376485331	missense variant	-	NC_000006.12:g.158502190G>T	gnomAD
TULP4	Q9NRJ4	p.Ala844Val	rs763748362	missense variant	-	NC_000006.12:g.158502194C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala844Asp	rs763748362	missense variant	-	NC_000006.12:g.158502194C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr846Ile	rs1224041966	missense variant	-	NC_000006.12:g.158502200C>T	gnomAD
TULP4	Q9NRJ4	p.Thr846Pro	rs901713887	missense variant	-	NC_000006.12:g.158502199A>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr847Ile	rs745864125	missense variant	-	NC_000006.12:g.158502203C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr847Ala	rs1450691746	missense variant	-	NC_000006.12:g.158502202A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr847Pro	rs1450691746	missense variant	-	NC_000006.12:g.158502202A>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala848Thr	rs755844770	missense variant	-	NC_000006.12:g.158502205G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala848Pro	rs755844770	missense variant	-	NC_000006.12:g.158502205G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala849Glu	rs1474303069	missense variant	-	NC_000006.12:g.158502209C>A	gnomAD
TULP4	Q9NRJ4	p.Pro850Ala	rs1046629077	missense variant	-	NC_000006.12:g.158502211C>G	TOPMed
TULP4	Q9NRJ4	p.Pro851Ser	rs1187898260	missense variant	-	NC_000006.12:g.158502214C>T	gnomAD
TULP4	Q9NRJ4	p.Pro851Arg	rs201087459	missense variant	-	NC_000006.12:g.158502215C>G	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro851Leu	rs201087459	missense variant	-	NC_000006.12:g.158502215C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro852His	rs1363716439	missense variant	-	NC_000006.12:g.158502218C>A	gnomAD
TULP4	Q9NRJ4	p.Pro852Ser	rs1165579028	missense variant	-	NC_000006.12:g.158502217C>T	gnomAD
TULP4	Q9NRJ4	p.Pro853Arg	rs768954306	missense variant	-	NC_000006.12:g.158502221C>G	ExAC
TULP4	Q9NRJ4	p.Leu854Pro	rs1347386801	missense variant	-	NC_000006.12:g.158502224T>C	gnomAD
TULP4	Q9NRJ4	p.Pro855Leu	rs748148323	missense variant	-	NC_000006.12:g.158502227C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro855Ser	rs1228835924	missense variant	-	NC_000006.12:g.158502226C>T	gnomAD
TULP4	Q9NRJ4	p.Pro856Ser	rs1248721953	missense variant	-	NC_000006.12:g.158502229C>T	gnomAD
TULP4	Q9NRJ4	p.Pro856His	rs1346266665	missense variant	-	NC_000006.12:g.158502230C>A	TOPMed
TULP4	Q9NRJ4	p.Gln858His	rs773578624	missense variant	-	NC_000006.12:g.158502237G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln858Pro	rs1205422350	missense variant	-	NC_000006.12:g.158502236A>C	gnomAD
TULP4	Q9NRJ4	p.Pro859His	rs200458345	missense variant	-	NC_000006.12:g.158502239C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro859Arg	rs200458345	missense variant	-	NC_000006.12:g.158502239C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro859Leu	rs200458345	missense variant	-	NC_000006.12:g.158502239C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro859Thr	rs761310513	missense variant	-	NC_000006.12:g.158502238C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro860Ser	rs935440800	missense variant	-	NC_000006.12:g.158502241C>T	TOPMed
TULP4	Q9NRJ4	p.Leu865Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502258G>C	NCI-TCGA
TULP4	Q9NRJ4	p.Lys866Met	rs763693329	missense variant	-	NC_000006.12:g.158502260A>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys867Glu	rs1226179660	missense variant	-	NC_000006.12:g.158502262A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly868Arg	rs1366854315	missense variant	-	NC_000006.12:g.158502265G>C	gnomAD
TULP4	Q9NRJ4	p.Asp869Asn	rs1159407392	missense variant	-	NC_000006.12:g.158502268G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser871Cys	rs572810348	missense variant	-	NC_000006.12:g.158502275C>G	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu872Ile	rs749910397	missense variant	-	NC_000006.12:g.158502277C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu872Phe	rs749910397	missense variant	-	NC_000006.12:g.158502277C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro874His	rs756025386	missense variant	-	NC_000006.12:g.158502284C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr875Met	rs753648417	missense variant	-	NC_000006.12:g.158502287C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val877Ala	rs368831811	missense variant	-	NC_000006.12:g.158502293T>C	gnomAD
TULP4	Q9NRJ4	p.His878Gln	rs779257037	missense variant	-	NC_000006.12:g.158502297C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.His878Arg	rs1348133217	missense variant	-	NC_000006.12:g.158502296A>G	gnomAD
TULP4	Q9NRJ4	p.Tyr879His	rs748462054	missense variant	-	NC_000006.12:g.158502298T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln880His	rs772040480	missense variant	-	NC_000006.12:g.158502303G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro882Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502308C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Leu883TrpPheSerTerUnkUnk	COSM5869676	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502305C>-	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Leu883Val	rs1441966467	missense variant	-	NC_000006.12:g.158502310C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly884Asp	rs1182648516	missense variant	-	NC_000006.12:g.158502314G>A	gnomAD
TULP4	Q9NRJ4	p.Asp892Tyr	rs1171387187	missense variant	-	NC_000006.12:g.158502337G>T	gnomAD
TULP4	Q9NRJ4	p.Asn896Lys	rs759860680	missense variant	-	NC_000006.12:g.158502351C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val897Met	rs770190031	missense variant	-	NC_000006.12:g.158502352G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Glu898Gln	rs1016340756	missense variant	-	NC_000006.12:g.158502355G>C	TOPMed
TULP4	Q9NRJ4	p.Glu898Lys	rs1016340756	missense variant	-	NC_000006.12:g.158502355G>A	TOPMed
TULP4	Q9NRJ4	p.Glu899Lys	COSM1311756	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502358G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Glu899Val	rs1283524557	missense variant	-	NC_000006.12:g.158502359A>T	gnomAD
TULP4	Q9NRJ4	p.Val900Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502361G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Val900Ala	rs767093482	missense variant	-	NC_000006.12:g.158502362T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Cys901Tyr	rs749903358	missense variant	-	NC_000006.12:g.158502365G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg902Trp	rs1039643204	missense variant	-	NC_000006.12:g.158502367C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg902Gln	rs138201740	missense variant	-	NC_000006.12:g.158502368G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg904Cys	rs899784581	missense variant	-	NC_000006.12:g.158502373C>T	TOPMed
TULP4	Q9NRJ4	p.Thr905Ile	rs754808860	missense variant	-	NC_000006.12:g.158502377C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg906Trp	rs752438455	missense variant	-	NC_000006.12:g.158502379C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg906Gln	rs377359848	missense variant	-	NC_000006.12:g.158502380G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met907Ile	rs143772991	missense variant	-	NC_000006.12:g.158502384G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met907Ile	rs143772991	missense variant	-	NC_000006.12:g.158502384G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met907Thr	rs777879338	missense variant	-	NC_000006.12:g.158502383T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn912Asp	rs1170138047	missense variant	-	NC_000006.12:g.158502397A>G	gnomAD
TULP4	Q9NRJ4	p.Thr913Met	rs199591747	missense variant	-	NC_000006.12:g.158502401C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr913Ala	rs771036231	missense variant	-	NC_000006.12:g.158502400A>G	ExAC
TULP4	Q9NRJ4	p.Thr913Lys	rs199591747	missense variant	-	NC_000006.12:g.158502401C>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr915Ile	rs530959213	missense variant	-	NC_000006.12:g.158502407C>T	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr915Ala	rs1303434300	missense variant	-	NC_000006.12:g.158502406A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu916Phe	rs543124505	missense variant	-	NC_000006.12:g.158502409C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro917Ala	rs771717933	missense variant	-	NC_000006.12:g.158502412C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly918Ser	rs760241779	missense variant	-	NC_000006.12:g.158502415G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro919Arg	rs141158549	missense variant	-	NC_000006.12:g.158502419C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro919Leu	rs141158549	missense variant	-	NC_000006.12:g.158502419C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly920Val	rs1292534842	missense variant	-	NC_000006.12:g.158502422G>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser921Arg	rs1490902040	missense variant	-	NC_000006.12:g.158502424A>C	gnomAD
TULP4	Q9NRJ4	p.Ser922Pro	rs370453448	missense variant	-	NC_000006.12:g.158502427T>C	ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala923Ser	rs1267178872	missense variant	-	NC_000006.12:g.158502430G>T	gnomAD
TULP4	Q9NRJ4	p.Ala923Val	rs776706519	missense variant	-	NC_000006.12:g.158502431C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr924Ser	rs150740591	missense variant	-	NC_000006.12:g.158502434C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu925Phe	COSM6173035	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502438G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Leu925Met	rs765278266	missense variant	-	NC_000006.12:g.158502436T>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu927Phe	rs1447696331	missense variant	-	NC_000006.12:g.158502442C>T	TOPMed
TULP4	Q9NRJ4	p.Thr928Met	rs374416132	missense variant	-	NC_000006.12:g.158502446C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr928Ala	rs1449344422	missense variant	-	NC_000006.12:g.158502445A>G	gnomAD
TULP4	Q9NRJ4	p.Ala929Asp	rs751775458	missense variant	-	NC_000006.12:g.158502449C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala929Val	COSM1441868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502449C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Thr930Ser	rs371114821	missense variant	-	NC_000006.12:g.158502451A>T	ESP,ExAC,TOPMed
TULP4	Q9NRJ4	p.Glu931Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502454G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Lys932Asn	rs745949010	missense variant	-	NC_000006.12:g.158502459G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Lys932Thr	rs915289951	missense variant	-	NC_000006.12:g.158502458A>C	TOPMed
TULP4	Q9NRJ4	p.Lys933Met	rs1383681744	missense variant	-	NC_000006.12:g.158502461A>T	gnomAD
TULP4	Q9NRJ4	p.Val934Phe	COSM4910939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502463G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro935Arg	rs375080790	missense variant	-	NC_000006.12:g.158502467C>G	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro935Ser	rs780461485	missense variant	-	NC_000006.12:g.158502466C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro935Leu	rs375080790	missense variant	-	NC_000006.12:g.158502467C>T	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro935Thr	rs780461485	missense variant	-	NC_000006.12:g.158502466C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln936Glu	rs1177397490	missense variant	-	NC_000006.12:g.158502469C>G	TOPMed
TULP4	Q9NRJ4	p.Pro937Thr	rs1315832866	missense variant	-	NC_000006.12:g.158502472C>A	gnomAD
TULP4	Q9NRJ4	p.Cys938Gly	rs1361669658	missense variant	-	NC_000006.12:g.158502475T>G	gnomAD
TULP4	Q9NRJ4	p.Ser939Gly	rs368409909	missense variant	-	NC_000006.12:g.158502478A>G	ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser940Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502481A>G	NCI-TCGA
TULP4	Q9NRJ4	p.Asn944Thr	rs139107383	missense variant	-	NC_000006.12:g.158502494A>C	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg945Cys	rs367875154	missense variant	-	NC_000006.12:g.158502496C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg945His	rs770712594	missense variant	-	NC_000006.12:g.158502497G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu946Gln	COSM4404123	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502500T>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Val948Ile	rs201183348	missense variant	-	NC_000006.12:g.158502505G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro949Ala	rs199583035	missense variant	-	NC_000006.12:g.158502508C>G	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro949Ser	rs199583035	missense variant	-	NC_000006.12:g.158502508C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg950Cys	rs117337831	missense variant	-	NC_000006.12:g.158502511C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg950His	rs751772422	missense variant	-	NC_000006.12:g.158502512G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg950Pro	rs751772422	missense variant	-	NC_000006.12:g.158502512G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Tyr951Asp	rs146618069	missense variant	-	NC_000006.12:g.158502514T>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile953Val	rs1394346413	missense variant	-	NC_000006.12:g.158502520A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr955Ala	rs780591087	missense variant	-	NC_000006.12:g.158502526A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly956Arg	rs755368176	missense variant	-	NC_000006.12:g.158502529G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp957Tyr	rs1328901401	missense variant	-	NC_000006.12:g.158502532G>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp957His	rs1328901401	missense variant	-	NC_000006.12:g.158502532G>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro958Leu	rs1204905089	missense variant	-	NC_000006.12:g.158502536C>T	gnomAD
TULP4	Q9NRJ4	p.Pro959Thr	rs886954118	missense variant	-	NC_000006.12:g.158502538C>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro959Leu	rs779080360	missense variant	-	NC_000006.12:g.158502539C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro959Arg	rs779080360	missense variant	-	NC_000006.12:g.158502539C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro960Ser	rs554669159	missense variant	-	NC_000006.12:g.158502541C>T	1000Genomes,gnomAD
TULP4	Q9NRJ4	p.Pro960Leu	rs115368748	missense variant	-	NC_000006.12:g.158502542C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Tyr961Cys	rs1156485635	missense variant	-	NC_000006.12:g.158502545A>G	gnomAD
TULP4	Q9NRJ4	p.Glu963Gln	rs1411050625	missense variant	-	NC_000006.12:g.158502550G>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala965Val	rs776454064	missense variant	-	NC_000006.12:g.158502557C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln967His	rs1357384165	missense variant	-	NC_000006.12:g.158502564G>T	gnomAD
TULP4	Q9NRJ4	p.Leu968Val	rs1447150650	missense variant	-	NC_000006.12:g.158502565C>G	gnomAD
TULP4	Q9NRJ4	p.Ala969Ser	rs375816875	missense variant	-	NC_000006.12:g.158502568G>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala969Thr	rs375816875	missense variant	-	NC_000006.12:g.158502568G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala969Val	rs775482315	missense variant	-	NC_000006.12:g.158502569C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg972Pro	rs146885905	missense variant	-	NC_000006.12:g.158502578G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg972Gly	rs762862451	missense variant	-	NC_000006.12:g.158502577C>G	ExAC,TOPMed
TULP4	Q9NRJ4	p.Arg972Trp	rs762862451	missense variant	-	NC_000006.12:g.158502577C>T	ExAC,TOPMed
TULP4	Q9NRJ4	p.Arg972Leu	rs146885905	missense variant	-	NC_000006.12:g.158502578G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg972Gln	rs146885905	missense variant	-	NC_000006.12:g.158502578G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly973Glu	rs767700682	missense variant	-	NC_000006.12:g.158502581G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala974LeuPheSerTerUnkUnk	COSM4738417	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502578G>-	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ala974Thr	rs370177605	missense variant	-	NC_000006.12:g.158502583G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala975Val	rs760798414	missense variant	-	NC_000006.12:g.158502587C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala975Ser	rs1298583420	missense variant	-	NC_000006.12:g.158502586G>T	TOPMed
TULP4	Q9NRJ4	p.Gln976Arg	rs753958989	missense variant	-	NC_000006.12:g.158502590A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln976Lys	rs766437667	missense variant	-	NC_000006.12:g.158502589C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp979Asn	rs34622886	missense variant	-	NC_000006.12:g.158502598G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn980Ser	rs780968111	missense variant	-	NC_000006.12:g.158502602A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asn980Asp	rs1171044844	missense variant	-	NC_000006.12:g.158502601A>G	gnomAD
TULP4	Q9NRJ4	p.Ser981Arg	rs1306205073	missense variant	-	NC_000006.12:g.158502604A>C	gnomAD
TULP4	Q9NRJ4	p.Ser981Arg	rs769339757	missense variant	-	NC_000006.12:g.158502606C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ile983Met	rs1405703999	missense variant	-	NC_000006.12:g.158502612C>G	gnomAD
TULP4	Q9NRJ4	p.His984Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502613C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Ala985Thr	rs748840409	missense variant	-	NC_000006.12:g.158502616G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala985Ser	rs748840409	missense variant	-	NC_000006.12:g.158502616G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr986Ala	rs148920633	missense variant	-	NC_000006.12:g.158502619A>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg988Trp	rs200667552	missense variant	-	NC_000006.12:g.158502625C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg988Gln	rs143675661	missense variant	-	NC_000006.12:g.158502626G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn990Ser	rs1265903933	missense variant	-	NC_000006.12:g.158502632A>G	TOPMed
TULP4	Q9NRJ4	p.Asn990Lys	rs1194922242	missense variant	-	NC_000006.12:g.158502633C>G	TOPMed
TULP4	Q9NRJ4	p.Asn991Ser	rs1223239876	missense variant	-	NC_000006.12:g.158502635A>G	gnomAD
TULP4	Q9NRJ4	p.Arg992His	rs753812170	missense variant	-	NC_000006.12:g.158502638G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg992Cys	rs199987597	missense variant	-	NC_000006.12:g.158502637C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala994Ser	rs759692002	missense variant	-	NC_000006.12:g.158502643G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr995Met	rs545297782	missense variant	-	NC_000006.12:g.158502647C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr995Ala	rs753304401	missense variant	-	NC_000006.12:g.158502646A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr995Ser	rs753304401	missense variant	-	NC_000006.12:g.158502646A>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu996Phe	rs772283211	missense variant	-	NC_000006.12:g.158502649C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu996Pro	rs201772574	missense variant	-	NC_000006.12:g.158502650T>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala999Val	rs377149954	missense variant	-	NC_000006.12:g.158502659C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1000Ter	COSM3860061	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502661C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ala1002Val	rs778811971	missense variant	-	NC_000006.12:g.158502668C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp1003Asn	rs1229743903	missense variant	-	NC_000006.12:g.158502670G>A	gnomAD
TULP4	Q9NRJ4	p.Pro1005Leu	rs561517481	missense variant	-	NC_000006.12:g.158502677C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1006Trp	rs201288009	missense variant	-	NC_000006.12:g.158502679C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1006Gln	rs771020319	missense variant	-	NC_000006.12:g.158502680G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1007Thr	rs373780975	missense variant	-	NC_000006.12:g.158502682G>A	ESP,ExAC,TOPMed
TULP4	Q9NRJ4	p.Ala1007Val	rs759510513	missense variant	-	NC_000006.12:g.158502683C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1007Pro	rs373780975	missense variant	-	NC_000006.12:g.158502682G>C	ESP,ExAC,TOPMed
TULP4	Q9NRJ4	p.Pro1008His	rs1192652481	missense variant	-	NC_000006.12:g.158502686C>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu1009CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.158502683C>-	NCI-TCGA
TULP4	Q9NRJ4	p.Leu1009Met	rs1165272666	missense variant	-	NC_000006.12:g.158502688C>A	gnomAD
TULP4	Q9NRJ4	p.Pro1011Ser	rs763483536	missense variant	-	NC_000006.12:g.158502694C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu1012Pro	rs751818622	missense variant	-	NC_000006.12:g.158502698T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu1012Val	rs764709846	missense variant	-	NC_000006.12:g.158502697C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1013Thr	rs765123369	missense variant	-	NC_000006.12:g.158502700G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1013Val	rs200373015	missense variant	-	NC_000006.12:g.158502701C>T	1000Genomes,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1015Ala	rs532511357	missense variant	-	NC_000006.12:g.158502706T>G	1000Genomes,TOPMed
TULP4	Q9NRJ4	p.Ser1015Phe	rs765928279	missense variant	-	NC_000006.12:g.158502707C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Lys1016Arg	rs753588753	missense variant	-	NC_000006.12:g.158502710A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1017Ser	rs1355213958	missense variant	-	NC_000006.12:g.158502712G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1017Asp	rs1223935129	missense variant	-	NC_000006.12:g.158502713G>A	gnomAD
TULP4	Q9NRJ4	p.Gly1018Arg	rs35153865	missense variant	-	NC_000006.12:g.158502715G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1020Arg	rs750371896	missense variant	-	NC_000006.12:g.158502721G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1020Arg	rs750371896	missense variant	-	NC_000006.12:g.158502721G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1020Trp	rs750371896	missense variant	-	NC_000006.12:g.158502721G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1021Trp	rs776704237	missense variant	-	NC_000006.12:g.158502724G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly1021Val	rs1189750847	missense variant	-	NC_000006.12:g.158502725G>T	gnomAD
TULP4	Q9NRJ4	p.Val1022Leu	rs550864790	missense variant	-	NC_000006.12:g.158502727G>T	1000Genomes,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1022Leu	rs550864790	missense variant	-	NC_000006.12:g.158502727G>C	1000Genomes,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1022Met	rs550864790	missense variant	-	NC_000006.12:g.158502727G>A	1000Genomes,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1022TrpPheSerTerUnk	COSM4612468	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158502721G>-	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Val1022GlyPheSerTerUnkUnk	rs752011727	frameshift	-	NC_000006.12:g.158502720_158502721insG	NCI-TCGA,NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Val1023Leu	rs770140661	missense variant	-	NC_000006.12:g.158502730G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1023Met	rs770140661	missense variant	-	NC_000006.12:g.158502730G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1024Ile	rs1455948689	missense variant	-	NC_000006.12:g.158502734C>T	gnomAD
TULP4	Q9NRJ4	p.Leu1026Ile	rs763144493	missense variant	-	NC_000006.12:g.158502739C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1027Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502743C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Ala1028Val	rs199631281	missense variant	-	NC_000006.12:g.158502746C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1029Gln	rs548116504	missense variant	-	NC_000006.12:g.158502749G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1029Trp	rs762073219	missense variant	-	NC_000006.12:g.158502748C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1030Ser	rs1333388838	missense variant	-	NC_000006.12:g.158502751C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1031Ser	rs750760884	missense variant	-	NC_000006.12:g.158502754C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1031Ala	rs750760884	missense variant	-	NC_000006.12:g.158502754C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1031Leu	rs754568549	missense variant	-	NC_000006.12:g.158502755C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Tyr1035Phe	rs151057609	missense variant	-	NC_000006.12:g.158502767A>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1036Ile	rs971143698	missense variant	-	NC_000006.12:g.158502770C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1039Glu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502778C>G	NCI-TCGA
TULP4	Q9NRJ4	p.Ser1041Gly	rs777548302	missense variant	-	NC_000006.12:g.158502784A>G	ExAC
TULP4	Q9NRJ4	p.Gly1042Asp	rs141015776	missense variant	-	NC_000006.12:g.158502788G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1043Ser	rs1378514369	missense variant	-	NC_000006.12:g.158502790A>T	gnomAD
TULP4	Q9NRJ4	p.Thr1043Arg	rs1479321564	missense variant	-	NC_000006.12:g.158502791C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1045Ser	rs1400916613	missense variant	-	NC_000006.12:g.158502796C>T	gnomAD
TULP4	Q9NRJ4	p.Pro1045Arg	rs1429797694	missense variant	-	NC_000006.12:g.158502797C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1045Leu	rs1429797694	missense variant	-	NC_000006.12:g.158502797C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1046Asn	rs745666797	missense variant	-	NC_000006.12:g.158502800G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1046Thr	rs745666797	missense variant	-	NC_000006.12:g.158502800G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1048Arg	rs770089499	missense variant	-	NC_000006.12:g.158502806A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly1050Arg	rs553855293	missense variant	-	NC_000006.12:g.158502811G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1051Thr	rs567396424	missense variant	-	NC_000006.12:g.158502814G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1052Pro	rs1441725756	missense variant	-	NC_000006.12:g.158502817T>C	TOPMed
TULP4	Q9NRJ4	p.Ser1052Phe	COSM3622380	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502818C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Leu1053Val	rs146981242	missense variant	-	NC_000006.12:g.158502820C>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1054Ser	rs772470643	missense variant	-	NC_000006.12:g.158502823G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.His1055Gln	rs761060509	missense variant	-	NC_000006.12:g.158502828T>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr1056Ala	rs1482204639	missense variant	-	NC_000006.12:g.158502829A>G	gnomAD
TULP4	Q9NRJ4	p.Thr1056Asn	rs764840174	missense variant	-	NC_000006.12:g.158502830C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala1057Thr	rs138066719	missense variant	-	NC_000006.12:g.158502832G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1057Ser	rs138066719	missense variant	-	NC_000006.12:g.158502832G>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1057Val	rs1197429844	missense variant	-	NC_000006.12:g.158502833C>T	gnomAD
TULP4	Q9NRJ4	p.Ala1059Thr	rs143651023	missense variant	-	NC_000006.12:g.158502838G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1061ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.158502842C>-	NCI-TCGA
TULP4	Q9NRJ4	p.Pro1061Leu	rs200682383	missense variant	-	NC_000006.12:g.158502845C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1063Val	rs1293748567	missense variant	-	NC_000006.12:g.158502851C>T	gnomAD
TULP4	Q9NRJ4	p.Ser1064Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158502854C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Gln1065Arg	rs903176695	missense variant	-	NC_000006.12:g.158502857A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1073Ser	rs138666234	missense variant	-	NC_000006.12:g.158502880C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1073Leu	rs1227989053	missense variant	-	NC_000006.12:g.158502881C>T	gnomAD
TULP4	Q9NRJ4	p.Pro1073Ala	rs138666234	missense variant	-	NC_000006.12:g.158502880C>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1074His	rs1472431189	missense variant	-	NC_000006.12:g.158502884C>A	TOPMed
TULP4	Q9NRJ4	p.Pro1074Ser	rs773751024	missense variant	-	NC_000006.12:g.158502883C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp1075Tyr	rs771340978	missense variant	-	NC_000006.12:g.158502886G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp1075Asn	rs771340978	missense variant	-	NC_000006.12:g.158502886G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1077Val	rs144465701	missense variant	-	NC_000006.12:g.158502893C>T	ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1077Thr	rs556070406	missense variant	-	NC_000006.12:g.158502892G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1078His	rs367584122	missense variant	-	NC_000006.12:g.158502896G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1078Cys	rs148004422	missense variant	-	NC_000006.12:g.158502895C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp1079Asn	rs755971368	missense variant	-	NC_000006.12:g.158502898G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1080Cys	rs142412261	missense variant	-	NC_000006.12:g.158502901C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1080His	rs974021455	missense variant	-	NC_000006.12:g.158502902G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1080Ser	rs142412261	missense variant	-	NC_000006.12:g.158502901C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1080Gly	rs142412261	missense variant	-	NC_000006.12:g.158502901C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1081Ala	rs1318420906	missense variant	-	NC_000006.12:g.158502904A>G	gnomAD
TULP4	Q9NRJ4	p.Thr1081Ile	rs755180125	missense variant	-	NC_000006.12:g.158502905C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp1082Asn	rs374529625	missense variant	-	NC_000006.12:g.158502907G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp1082Gly	rs554914544	missense variant	-	NC_000006.12:g.158502908A>G	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Tyr1083His	rs1242811469	missense variant	-	NC_000006.12:g.158502910T>C	gnomAD
TULP4	Q9NRJ4	p.Tyr1083Cys	rs778237859	missense variant	-	NC_000006.12:g.158502911A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1084Ile	rs34559793	missense variant	-	NC_000006.12:g.158502913G>A	UniProt,dbSNP
TULP4	Q9NRJ4	p.Val1084Ile	VAR_052420	missense variant	-	NC_000006.12:g.158502913G>A	UniProt
TULP4	Q9NRJ4	p.Val1084Ile	rs34559793	missense variant	-	NC_000006.12:g.158502913G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn1085Thr	rs776922745	missense variant	-	NC_000006.12:g.158502917A>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1086Leu	rs368742583	missense variant	-	NC_000006.12:g.158502920C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Phe1088Leu	rs773913477	missense variant	-	NC_000006.12:g.158502925T>C	ExAC,TOPMed
TULP4	Q9NRJ4	p.Thr1089Met	rs140116628	missense variant	-	NC_000006.12:g.158502929C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu1090Asp	rs772855472	missense variant	-	NC_000006.12:g.158502933G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp1091Tyr	rs760636119	missense variant	-	NC_000006.12:g.158502934G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu1092Lys	rs753646341	missense variant	-	NC_000006.12:g.158502937G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1093Thr	rs754769786	missense variant	-	NC_000006.12:g.158502940G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu1094Val	rs1221029501	missense variant	-	NC_000006.12:g.158502943C>G	TOPMed
TULP4	Q9NRJ4	p.Gln1096Glu	rs765476176	missense variant	-	NC_000006.12:g.158502949C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.His1097Tyr	rs1213120667	missense variant	-	NC_000006.12:g.158502952C>T	TOPMed
TULP4	Q9NRJ4	p.Cys1098Arg	rs372343702	missense variant	-	NC_000006.12:g.158502955T>C	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1099Arg	rs867792725	missense variant	-	NC_000006.12:g.158502959A>G	-
TULP4	Q9NRJ4	p.Leu1100Pro	rs1351541548	missense variant	-	NC_000006.12:g.158502962T>C	gnomAD
TULP4	Q9NRJ4	p.Glu1101Lys	rs758497948	missense variant	-	NC_000006.12:g.158502964G>A	ExAC
TULP4	Q9NRJ4	p.Glu1101Gln	COSM5649542	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502964G>C	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Glu1101Gly	rs777762353	missense variant	-	NC_000006.12:g.158502965A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.His1106Arg	rs747104798	missense variant	-	NC_000006.12:g.158502980A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.His1106Gln	rs1211422960	missense variant	-	NC_000006.12:g.158502981C>A	gnomAD
TULP4	Q9NRJ4	p.His1106Tyr	rs1392345001	missense variant	-	NC_000006.12:g.158502979C>T	TOPMed
TULP4	Q9NRJ4	p.Pro1107Leu	rs781683492	missense variant	-	NC_000006.12:g.158502983C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1107Ser	rs757712694	missense variant	-	NC_000006.12:g.158502982C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1108His	rs746209791	missense variant	-	NC_000006.12:g.158502986C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1108Ser	COSM4488411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502985C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro1108Ala	rs1170801984	missense variant	-	NC_000006.12:g.158502985C>G	gnomAD
TULP4	Q9NRJ4	p.Pro1108Leu	rs746209791	missense variant	-	NC_000006.12:g.158502986C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1110Arg	rs747692181	missense variant	-	NC_000006.12:g.158502992C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1110Ser	COSM1075433	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158502991C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ala1112Thr	rs139425977	missense variant	-	NC_000006.12:g.158502997G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1112Val	rs772804283	missense variant	-	NC_000006.12:g.158502998C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr1115Ser	rs760293108	missense variant	-	NC_000006.12:g.158503007C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1115Ile	rs760293108	missense variant	-	NC_000006.12:g.158503007C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu1116Val	rs1476810105	missense variant	-	NC_000006.12:g.158503009C>G	TOPMed
TULP4	Q9NRJ4	p.Lys1117Glu	rs1464590459	missense variant	-	NC_000006.12:g.158503012A>G	gnomAD
TULP4	Q9NRJ4	p.Lys1117Thr	rs1239500486	missense variant	-	NC_000006.12:g.158503013A>C	TOPMed
TULP4	Q9NRJ4	p.Arg1118Trp	rs776482908	missense variant	-	NC_000006.12:g.158503015C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1118Leu	rs367675484	missense variant	-	NC_000006.12:g.158503016G>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1118Gln	rs367675484	missense variant	-	NC_000006.12:g.158503016G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1119Ser	rs765007222	missense variant	-	NC_000006.12:g.158503018C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1120Arg	rs752540841	missense variant	-	NC_000006.12:g.158503022C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1120Leu	rs752540841	missense variant	-	NC_000006.12:g.158503022C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1120Ala	rs1202951065	missense variant	-	NC_000006.12:g.158503021C>G	TOPMed
TULP4	Q9NRJ4	p.Pro1121Ala	rs758491143	missense variant	-	NC_000006.12:g.158503024C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1121Ser	rs758491143	missense variant	-	NC_000006.12:g.158503024C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1121Leu	rs751594751	missense variant	-	NC_000006.12:g.158503025C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1121Arg	rs751594751	missense variant	-	NC_000006.12:g.158503025C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1123Arg	rs562882638	missense variant	-	NC_000006.12:g.158503031A>G	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp1125Glu	rs750947266	missense variant	-	NC_000006.12:g.158503038C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Asp1125Asn	rs781646496	missense variant	-	NC_000006.12:g.158503036G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Met1127Val	rs1483841175	missense variant	-	NC_000006.12:g.158503042A>G	gnomAD
TULP4	Q9NRJ4	p.Gly1129Val	rs192777685	missense variant	-	NC_000006.12:g.158503049G>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1129Asp	rs192777685	missense variant	-	NC_000006.12:g.158503049G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp1131Glu	rs914690	missense variant	-	NC_000006.12:g.158503056T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1132Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503057G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Val1132Ile	rs749689118	missense variant	-	NC_000006.12:g.158503057G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1134Ile	rs1192901482	missense variant	-	NC_000006.12:g.158503063G>A	gnomAD
TULP4	Q9NRJ4	p.Pro1135Ser	rs771814412	missense variant	-	NC_000006.12:g.158503066C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln1136Arg	rs777608746	missense variant	-	NC_000006.12:g.158503070A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Glu1137Val	rs1390849326	missense variant	-	NC_000006.12:g.158503073A>T	gnomAD
TULP4	Q9NRJ4	p.Arg1138Lys	rs1306373501	missense variant	-	NC_000006.12:g.158503076G>A	gnomAD
TULP4	Q9NRJ4	p.Arg1138Gly	rs770624797	missense variant	-	NC_000006.12:g.158503075A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1139Ile	rs759322600	missense variant	-	NC_000006.12:g.158503079C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1140Pro	rs769782296	missense variant	-	NC_000006.12:g.158503081G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln1141Arg	rs762766910	missense variant	-	NC_000006.12:g.158503085A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr1142Ile	rs1297770589	missense variant	-	NC_000006.12:g.158503088C>T	gnomAD
TULP4	Q9NRJ4	p.Gly1144Glu	rs751825544	missense variant	-	NC_000006.12:g.158503094G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn1146Thr	rs1444130243	missense variant	-	NC_000006.12:g.158503100A>C	gnomAD
TULP4	Q9NRJ4	p.Pro1147Arg	rs767432516	missense variant	-	NC_000006.12:g.158503103C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1151Thr	rs756533395	missense variant	-	NC_000006.12:g.158503114T>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1151Phe	rs780646098	missense variant	-	NC_000006.12:g.158503115C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.His1160Asp	rs113322787	missense variant	-	NC_000006.12:g.158503141C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.His1160Tyr	rs113322787	missense variant	-	NC_000006.12:g.158503141C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu1161Val	rs1348488726	missense variant	-	NC_000006.12:g.158503144C>G	gnomAD
TULP4	Q9NRJ4	p.Val1163Met	rs745404947	missense variant	-	NC_000006.12:g.158503150G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1165Ter	COSM741365	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.158503156C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Arg1165Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503157G>C	NCI-TCGA
TULP4	Q9NRJ4	p.Arg1165Gln	rs144691972	missense variant	-	NC_000006.12:g.158503157G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu1166Val	rs1397748746	missense variant	-	NC_000006.12:g.158503159C>G	TOPMed
TULP4	Q9NRJ4	p.Pro1167His	COSM3430299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503163C>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro1167Leu	rs1269039473	missense variant	-	NC_000006.12:g.158503163C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Phe1168Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503167C>A	NCI-TCGA
TULP4	Q9NRJ4	p.Ile1169Val	rs1379452511	missense variant	-	NC_000006.12:g.158503168A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1171Ser	rs762711294	missense variant	-	NC_000006.12:g.158503174C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1171Leu	rs182840540	missense variant	-	NC_000006.12:g.158503175C>T	1000Genomes,gnomAD
TULP4	Q9NRJ4	p.Lys1172Arg	rs774549429	missense variant	-	NC_000006.12:g.158503178A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala1175Thr	rs1191120198	missense variant	-	NC_000006.12:g.158503186G>A	gnomAD
TULP4	Q9NRJ4	p.Ser1176Arg	rs773130093	missense variant	-	NC_000006.12:g.158503191C>G	ExAC,TOPMed
TULP4	Q9NRJ4	p.Ser1176Gly	rs767806168	missense variant	-	NC_000006.12:g.158503189A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr1178Ala	rs202138353	missense variant	-	NC_000006.12:g.158503195A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala1179Val	rs376413347	missense variant	-	NC_000006.12:g.158503199C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1179Thr	rs754455276	missense variant	-	NC_000006.12:g.158503198G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1182His	rs34017613	missense variant	-	NC_000006.12:g.158503209A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1184Ala	rs756809181	missense variant	-	NC_000006.12:g.158503214G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Tyr1185Cys	rs780928217	missense variant	-	NC_000006.12:g.158503217A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly1186Arg	rs373734605	missense variant	-	NC_000006.12:g.158503219G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met1187Val	rs779838394	missense variant	-	NC_000006.12:g.158503222A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met1187Ile	rs1354373095	missense variant	-	NC_000006.12:g.158503224G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1188Glu	rs570241943	missense variant	-	NC_000006.12:g.158503226G>A	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Val1189Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503228G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Pro1190Leu	rs912959894	missense variant	-	NC_000006.12:g.158503232C>T	TOPMed
TULP4	Q9NRJ4	p.Pro1192Thr	rs1004394694	missense variant	-	NC_000006.12:g.158503237C>A	gnomAD
TULP4	Q9NRJ4	p.Pro1192Ser	rs1004394694	missense variant	-	NC_000006.12:g.158503237C>T	gnomAD
TULP4	Q9NRJ4	p.Ser1194Asn	rs774086017	missense variant	-	NC_000006.12:g.158503244G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Tyr1195Ser	rs1037568557	missense variant	-	NC_000006.12:g.158503247A>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Tyr1195Cys	rs1037568557	missense variant	-	NC_000006.12:g.158503247A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn1196Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503250A>G	NCI-TCGA
TULP4	Q9NRJ4	p.Pro1198Thr	rs1474982724	missense variant	-	NC_000006.12:g.158503255C>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1198Ser	rs1474982724	missense variant	-	NC_000006.12:g.158503255C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1199Ser	rs1183363297	missense variant	-	NC_000006.12:g.158503258C>T	gnomAD
TULP4	Q9NRJ4	p.Pro1199Arg	rs772156976	missense variant	-	NC_000006.12:g.158503259C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1199Leu	rs772156976	missense variant	-	NC_000006.12:g.158503259C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu1200Phe	rs376933499	missense variant	-	NC_000006.12:g.158503263G>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1203Leu	rs752213120	missense variant	-	NC_000006.12:g.158503270G>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1203Ala	rs1331574042	missense variant	-	NC_000006.12:g.158503271T>C	gnomAD
TULP4	Q9NRJ4	p.Ala1205Ser	rs1374479803	missense variant	-	NC_000006.12:g.158503276G>T	gnomAD
TULP4	Q9NRJ4	p.Pro1206Leu	COSM741364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503280C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro1206Ala	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503279C>G	NCI-TCGA
TULP4	Q9NRJ4	p.Ser1208Pro	rs1342122308	missense variant	-	NC_000006.12:g.158503285T>C	TOPMed
TULP4	Q9NRJ4	p.Pro1209His	rs1232256323	missense variant	-	NC_000006.12:g.158503289C>A	gnomAD
TULP4	Q9NRJ4	p.Pro1209Ser	rs1298532515	missense variant	-	NC_000006.12:g.158503288C>T	TOPMed
TULP4	Q9NRJ4	p.Ala1212Thr	rs755725430	missense variant	-	NC_000006.12:g.158503297G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1214Phe	rs1348389205	missense variant	-	NC_000006.12:g.158503304C>T	gnomAD
TULP4	Q9NRJ4	p.Pro1215Leu	rs1346977856	missense variant	-	NC_000006.12:g.158503307C>T	gnomAD
TULP4	Q9NRJ4	p.Pro1215Ser	rs34395018	missense variant	-	NC_000006.12:g.158503306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1216Ala	rs1032110947	missense variant	-	NC_000006.12:g.158503309A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1216Pro	rs1032110947	missense variant	-	NC_000006.12:g.158503309A>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1216Met	rs375157188	missense variant	-	NC_000006.12:g.158503310C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1217Arg	rs750144450	missense variant	-	NC_000006.12:g.158503313A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala1219Val	rs891306226	missense variant	-	NC_000006.12:g.158503319C>T	TOPMed
TULP4	Q9NRJ4	p.Gln1221Arg	rs779470176	missense variant	-	NC_000006.12:g.158503325A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1221Ter	rs1436408537	stop gained	-	NC_000006.12:g.158503324C>T	gnomAD
TULP4	Q9NRJ4	p.Glu1222Val	rs1378747222	missense variant	-	NC_000006.12:g.158503328A>T	gnomAD
TULP4	Q9NRJ4	p.Glu1222Gln	rs1446648962	missense variant	-	NC_000006.12:g.158503327G>C	TOPMed
TULP4	Q9NRJ4	p.Pro1223Ala	rs748820585	missense variant	-	NC_000006.12:g.158503330C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1223Leu	rs754871274	missense variant	-	NC_000006.12:g.158503331C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Val1226Ala	rs778863128	missense variant	-	NC_000006.12:g.158503340T>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1229Leu	rs1390628532	missense variant	-	NC_000006.12:g.158503349C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1229Ser	COSM271588	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503348C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro1229Thr	rs897267870	missense variant	-	NC_000006.12:g.158503348C>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Tyr1231Ser	rs759716238	missense variant	-	NC_000006.12:g.158503355A>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1232Ser	rs570526243	missense variant	-	NC_000006.12:g.158503357C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1234Gly	rs1277058636	missense variant	-	NC_000006.12:g.158503363A>G	gnomAD
TULP4	Q9NRJ4	p.Ser1234Ile	COSM1075434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503364G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Leu1235Arg	rs1278616575	missense variant	-	NC_000006.12:g.158503367T>G	TOPMed
TULP4	Q9NRJ4	p.Ser1236Phe	rs1195588706	missense variant	-	NC_000006.12:g.158503370C>T	gnomAD
TULP4	Q9NRJ4	p.Tyr1237Cys	rs376255175	missense variant	-	NC_000006.12:g.158503373A>G	ESP
TULP4	Q9NRJ4	p.Cys1238Tyr	rs764585766	missense variant	-	NC_000006.12:g.158503376G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr1239Ile	rs140413743	missense variant	-	NC_000006.12:g.158503379C>T	ESP,TOPMed
TULP4	Q9NRJ4	p.Thr1239Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503378A>T	NCI-TCGA
TULP4	Q9NRJ4	p.Pro1241Ser	rs1449522522	missense variant	-	NC_000006.12:g.158503384C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1241Leu	rs760314999	missense variant	-	NC_000006.12:g.158503385C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1242Leu	rs778813916	missense variant	-	NC_000006.12:g.158503388C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1242Thr	rs534360336	missense variant	-	NC_000006.12:g.158503387C>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1242Ser	rs534360336	missense variant	-	NC_000006.12:g.158503387C>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met1243Thr	rs777569329	missense variant	-	NC_000006.12:g.158503391T>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met1243Ile	rs746799550	missense variant	-	NC_000006.12:g.158503392G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Met1243Val	rs758276048	missense variant	-	NC_000006.12:g.158503390A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1249Ala	rs771235865	missense variant	-	NC_000006.12:g.158503408A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr1249Met	rs781601716	missense variant	-	NC_000006.12:g.158503409C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Cys1250Tyr	rs776135562	missense variant	-	NC_000006.12:g.158503412G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Cys1250Arg	rs770056683	missense variant	-	NC_000006.12:g.158503411T>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Cys1250Gly	rs770056683	missense variant	-	NC_000006.12:g.158503411T>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1256Ser	rs769055843	missense variant	-	NC_000006.12:g.158503429C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1256Leu	rs1189946309	missense variant	-	NC_000006.12:g.158503430C>T	gnomAD
TULP4	Q9NRJ4	p.Pro1257Thr	rs774739941	missense variant	-	NC_000006.12:g.158503432C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1259Thr	rs150378179	missense variant	-	NC_000006.12:g.158503438G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1259Val	rs898651679	missense variant	-	NC_000006.12:g.158503439C>T	gnomAD
TULP4	Q9NRJ4	p.Ser1264Arg	rs1324046345	missense variant	-	NC_000006.12:g.158503455T>G	gnomAD
TULP4	Q9NRJ4	p.Ser1265Pro	rs759047000	missense variant	-	NC_000006.12:g.158503456T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1265Phe	rs764664477	missense variant	-	NC_000006.12:g.158503457C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1265Cys	rs764664477	missense variant	-	NC_000006.12:g.158503457C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Tyr1266His	rs1390276204	missense variant	-	NC_000006.12:g.158503459T>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1267Cys	rs369995721	missense variant	-	NC_000006.12:g.158503462A>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1267Gly	rs369995721	missense variant	-	NC_000006.12:g.158503462A>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1268Thr	rs373525326	missense variant	-	NC_000006.12:g.158503465G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1268Pro	rs373525326	missense variant	-	NC_000006.12:g.158503465G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1268Val	rs1332629880	missense variant	-	NC_000006.12:g.158503466C>T	gnomAD
TULP4	Q9NRJ4	p.Cys1269Tyr	rs746159598	missense variant	-	NC_000006.12:g.158503469G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Cys1269Phe	rs746159598	missense variant	-	NC_000006.12:g.158503469G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Cys1269Arg	rs1357558006	missense variant	-	NC_000006.12:g.158503468T>C	gnomAD
TULP4	Q9NRJ4	p.Pro1270Leu	rs145101521	missense variant	-	NC_000006.12:g.158503472C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1270Thr	rs770144481	missense variant	-	NC_000006.12:g.158503471C>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1270Ser	rs770144481	missense variant	-	NC_000006.12:g.158503471C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1271Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503475C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Pro1271Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503474C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Pro1271His	rs1258509866	missense variant	-	NC_000006.12:g.158503475C>A	gnomAD
TULP4	Q9NRJ4	p.Asn1274Ser	rs769177968	missense variant	-	NC_000006.12:g.158503484A>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn1274Ile	rs769177968	missense variant	-	NC_000006.12:g.158503484A>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1275Leu	COSM4491556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503487C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro1275Ala	rs774770935	missense variant	-	NC_000006.12:g.158503486C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1275Ser	rs774770935	missense variant	-	NC_000006.12:g.158503486C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1277Ser	rs748533592	missense variant	-	NC_000006.12:g.158503492G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1277Asp	rs1473981470	missense variant	-	NC_000006.12:g.158503493G>A	gnomAD
TULP4	Q9NRJ4	p.Thr1278Ser	rs921610162	missense variant	-	NC_000006.12:g.158503496C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1281Thr	rs3749852	missense variant	-	NC_000006.12:g.158503504C>A	UniProt,dbSNP
TULP4	Q9NRJ4	p.Pro1281Thr	VAR_052421	missense variant	-	NC_000006.12:g.158503504C>A	UniProt
TULP4	Q9NRJ4	p.Pro1281Thr	rs3749852	missense variant	-	NC_000006.12:g.158503504C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1281Ala	rs3749852	missense variant	-	NC_000006.12:g.158503504C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1281Ser	rs3749852	missense variant	-	NC_000006.12:g.158503504C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Pro1281GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.158503500C>-	NCI-TCGA
TULP4	Q9NRJ4	p.Pro1281Arg	rs762406629	missense variant	-	NC_000006.12:g.158503505C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1281Gln	rs762406629	missense variant	-	NC_000006.12:g.158503505C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys1282Glu	rs944282297	missense variant	-	NC_000006.12:g.158503507A>G	TOPMed
TULP4	Q9NRJ4	p.Pro1283Leu	rs1377507493	missense variant	-	NC_000006.12:g.158503511C>T	gnomAD
TULP4	Q9NRJ4	p.Pro1283Thr	rs897314045	missense variant	-	NC_000006.12:g.158503510C>A	TOPMed
TULP4	Q9NRJ4	p.His1284Asp	rs757112669	missense variant	-	NC_000006.12:g.158503513C>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.His1284Tyr	rs757112669	missense variant	-	NC_000006.12:g.158503513C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu1285Val	rs767353746	missense variant	-	NC_000006.12:g.158503516T>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Val1286Met	rs1351487220	missense variant	-	NC_000006.12:g.158503519G>A	gnomAD
TULP4	Q9NRJ4	p.Glu1288Asp	COSM1075435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503527G>C	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Glu1288Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503525G>C	NCI-TCGA
TULP4	Q9NRJ4	p.Lys1289Glu	COSM3622383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503528A>G	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro1290Ser	rs750256130	missense variant	-	NC_000006.12:g.158503531C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu1291Pro	rs1307828619	missense variant	-	NC_000006.12:g.158503535T>C	TOPMed
TULP4	Q9NRJ4	p.Leu1291ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.158503530_158503531insC	NCI-TCGA
TULP4	Q9NRJ4	p.Pro1294Gln	rs1209701683	missense variant	-	NC_000006.12:g.158503544C>A	gnomAD
TULP4	Q9NRJ4	p.Pro1294Ser	rs370879755	missense variant	-	NC_000006.12:g.158503543C>T	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1295Arg	rs999818616	missense variant	-	NC_000006.12:g.158503547C>G	gnomAD
TULP4	Q9NRJ4	p.Ala1297Val	rs755072825	missense variant	-	NC_000006.12:g.158503553C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp1298Gly	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503556A>G	NCI-TCGA
TULP4	Q9NRJ4	p.Asp1298Asn	rs138618542	missense variant	-	NC_000006.12:g.158503555G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu1299Pro	rs748591714	missense variant	-	NC_000006.12:g.158503559T>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu1299His	rs748591714	missense variant	-	NC_000006.12:g.158503559T>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln1300His	rs3749853	missense variant	-	NC_000006.12:g.158503563A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1301Gly	rs1269854677	missense variant	-	NC_000006.12:g.158503564A>G	gnomAD
TULP4	Q9NRJ4	p.Gly1304Ser	rs747407705	missense variant	-	NC_000006.12:g.158503573G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Val1307Met	rs769454233	missense variant	-	NC_000006.12:g.158503582G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1307Leu	rs769454233	missense variant	-	NC_000006.12:g.158503582G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1309Ile	rs762507787	missense variant	-	NC_000006.12:g.158503588G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Glu1310Gln	rs1157999650	missense variant	-	NC_000006.12:g.158503591G>C	TOPMed
TULP4	Q9NRJ4	p.Glu1310Gly	rs773916311	missense variant	-	NC_000006.12:g.158503592A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala1312Thr	rs1373260864	missense variant	-	NC_000006.12:g.158503597G>A	gnomAD
TULP4	Q9NRJ4	p.Asn1314Ser	rs138934316	missense variant	-	NC_000006.12:g.158503604A>G	1000Genomes,ESP
TULP4	Q9NRJ4	p.Phe1315Leu	rs761783648	missense variant	-	NC_000006.12:g.158503606T>C	ExAC
TULP4	Q9NRJ4	p.Phe1315Leu	rs1239116069	missense variant	-	NC_000006.12:g.158503608C>G	TOPMed
TULP4	Q9NRJ4	p.Val1318Ile	COSM4546220	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503615G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Glu1323Lys	rs200252818	missense variant	-	NC_000006.12:g.158503630G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1326Ala	rs551988485	missense variant	-	NC_000006.12:g.158503640T>C	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1327His	rs778804330	missense variant	-	NC_000006.12:g.158503643C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1327Leu	rs778804330	missense variant	-	NC_000006.12:g.158503643C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Arg1329Gly	rs200432004	missense variant	-	NC_000006.12:g.158503648C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1329Trp	rs200432004	missense variant	-	NC_000006.12:g.158503648C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1329Gln	rs778290647	missense variant	-	NC_000006.12:g.158503649G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu1331Asp	rs373985552	missense variant	-	NC_000006.12:g.158503656A>C	ESP,ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys1332Ile	rs1391018590	missense variant	-	NC_000006.12:g.158503658A>T	gnomAD
TULP4	Q9NRJ4	p.Gly1334Ala	rs771255165	missense variant	-	NC_000006.12:g.158503664G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Lys1335Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503668G>C	NCI-TCGA
TULP4	Q9NRJ4	p.Lys1336Arg	rs1168843077	missense variant	-	NC_000006.12:g.158503670A>G	gnomAD
TULP4	Q9NRJ4	p.Asn1337Ser	rs1286467709	missense variant	-	NC_000006.12:g.158503673A>G	TOPMed
TULP4	Q9NRJ4	p.Arg1338Trp	rs1162811022	missense variant	-	NC_000006.12:g.158503675C>T	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1338Gln	rs375853714	missense variant	-	NC_000006.12:g.158503676G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1340His	rs563930329	missense variant	-	NC_000006.12:g.158503682G>A	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1340Leu	rs563930329	missense variant	-	NC_000006.12:g.158503682G>T	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1340Cys	rs370511300	missense variant	-	NC_000006.12:g.158503681C>T	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1344Gln	rs374181619	missense variant	-	NC_000006.12:g.158503694G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1345Val	rs761438567	missense variant	-	NC_000006.12:g.158503697C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu1346Lys	rs921662158	missense variant	-	NC_000006.12:g.158503699G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu1347Gly	rs189101138	missense variant	-	NC_000006.12:g.158503703A>G	1000Genomes,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1348Arg	rs773342888	missense variant	-	NC_000006.12:g.158503705G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1349Asn	rs1272112637	missense variant	-	NC_000006.12:g.158503709G>A	gnomAD
TULP4	Q9NRJ4	p.Val1350Ile	rs140677029	missense variant	-	NC_000006.12:g.158503711G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1351Arg	rs1271224193	missense variant	-	NC_000006.12:g.158503715A>G	gnomAD
TULP4	Q9NRJ4	p.Ala1352Thr	rs759633083	missense variant	-	NC_000006.12:g.158503717G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Thr1354Ala	rs1476548955	missense variant	-	NC_000006.12:g.158503723A>G	gnomAD
TULP4	Q9NRJ4	p.Gly1356Val	rs1488423240	missense variant	-	NC_000006.12:g.158503730G>T	TOPMed
TULP4	Q9NRJ4	p.Lys1359Thr	rs1419311315	missense variant	-	NC_000006.12:g.158503739A>C	gnomAD
TULP4	Q9NRJ4	p.Lys1360Arg	rs1424781876	missense variant	-	NC_000006.12:g.158503742A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Thr1364Ala	rs943760430	missense variant	-	NC_000006.12:g.158503753A>G	gnomAD
TULP4	Q9NRJ4	p.Leu1365Phe	rs778237585	missense variant	-	NC_000006.12:g.158503758G>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu1365Ser	rs902162030	missense variant	-	NC_000006.12:g.158503757T>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1366Arg	rs752122680	missense variant	-	NC_000006.12:g.158503761T>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1366Asn	rs546390777	missense variant	-	NC_000006.12:g.158503760G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asp1367Asn	rs757783791	missense variant	-	NC_000006.12:g.158503762G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1370Phe	rs746265193	missense variant	-	NC_000006.12:g.158503772C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1370Ala	rs781351994	missense variant	-	NC_000006.12:g.158503771T>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu1371Pro	rs1291146012	missense variant	-	NC_000006.12:g.158503775T>C	gnomAD
TULP4	Q9NRJ4	p.Ile1372Val	rs1214888387	missense variant	-	NC_000006.12:g.158503777A>G	TOPMed
TULP4	Q9NRJ4	p.Ile1372Met	rs768772992	missense variant	-	NC_000006.12:g.158503779C>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1374Asn	rs1448787904	missense variant	-	NC_000006.12:g.158503784G>A	gnomAD
TULP4	Q9NRJ4	p.Ser1374Gly	rs778746328	missense variant	-	NC_000006.12:g.158503783A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.His1376Arg	rs918772573	missense variant	-	NC_000006.12:g.158503790A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1379Lys	COSM3777277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503799G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Arg1379Gly	rs372715193	missense variant	-	NC_000006.12:g.158503798A>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu1380Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.158503801G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Glu1380Val	rs905972763	missense variant	-	NC_000006.12:g.158503802A>T	TOPMed
TULP4	Q9NRJ4	p.Val1384Ala	rs1324236156	missense variant	-	NC_000006.12:g.158503814T>C	TOPMed
TULP4	Q9NRJ4	p.Gln1387His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503824G>C	NCI-TCGA
TULP4	Q9NRJ4	p.Asp1389Glu	rs1398477147	missense variant	-	NC_000006.12:g.158503830C>A	gnomAD
TULP4	Q9NRJ4	p.Gln1390His	rs1316974737	missense variant	-	NC_000006.12:g.158503833A>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu1391Val	rs145543020	missense variant	-	NC_000006.12:g.158503834C>G	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1393Pro	rs1416226417	missense variant	-	NC_000006.12:g.158503840T>C	gnomAD
TULP4	Q9NRJ4	p.Lys1395Gln	rs759418306	missense variant	-	NC_000006.12:g.158503846A>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys1395Thr	rs765419907	missense variant	-	NC_000006.12:g.158503847A>C	ExAC,gnomAD
TULP4	Q9NRJ4	p.Leu1396Phe	rs548923370	missense variant	-	NC_000006.12:g.158503851G>C	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys1398Asn	rs1222146121	missense variant	-	NC_000006.12:g.158503857G>C	gnomAD
TULP4	Q9NRJ4	p.Thr1399Ile	rs1283577627	missense variant	-	NC_000006.12:g.158503859C>T	gnomAD
TULP4	Q9NRJ4	p.Glu1401Lys	rs751651813	missense variant	-	NC_000006.12:g.158503864G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gln1403His	rs1255898313	missense variant	-	NC_000006.12:g.158503872G>C	gnomAD
TULP4	Q9NRJ4	p.Asp1404Gly	COSM3829555	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503874A>G	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ser1405Arg	rs757656583	missense variant	-	NC_000006.12:g.158503878C>A	ExAC
TULP4	Q9NRJ4	p.Glu1407Lys	rs756561518	missense variant	-	NC_000006.12:g.158503882G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Glu1409Asp	rs747737473	missense variant	-	NC_000006.12:g.158503890G>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Glu1409Lys	COSM3860066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503888G>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Pro1410Leu	rs1256127212	missense variant	-	NC_000006.12:g.158503892C>T	gnomAD
TULP4	Q9NRJ4	p.Ile1414Phe	rs777372284	missense variant	-	NC_000006.12:g.158503903A>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly1416Arg	rs746565198	missense variant	-	NC_000006.12:g.158503909G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met1420Ile	COSM3430300	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503923G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Met1420Val	rs770744631	missense variant	-	NC_000006.12:g.158503921A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1423Gly	rs776682725	missense variant	-	NC_000006.12:g.158503930A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1423Arg	COSM450811	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503932C>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Gln1424His	rs1271822217	missense variant	-	NC_000006.12:g.158503935G>C	TOPMed
TULP4	Q9NRJ4	p.Gly1425Asp	rs745633100	missense variant	-	NC_000006.12:g.158503937G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly1425Ser	rs1200959199	missense variant	-	NC_000006.12:g.158503936G>A	TOPMed
TULP4	Q9NRJ4	p.Ser1426Asn	rs775264975	missense variant	-	NC_000006.12:g.158503940G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly1429Ser	rs1236831941	missense variant	-	NC_000006.12:g.158503948G>A	gnomAD
TULP4	Q9NRJ4	p.Gly1429Asp	rs1278489081	missense variant	-	NC_000006.12:g.158503949G>A	gnomAD
TULP4	Q9NRJ4	p.Trp1430Arg	COSM483620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503951T>A	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Trp1430Arg	rs1196755409	missense variant	-	NC_000006.12:g.158503951T>C	gnomAD
TULP4	Q9NRJ4	p.Ser1432Asn	rs1272678718	missense variant	-	NC_000006.12:g.158503958G>A	TOPMed
TULP4	Q9NRJ4	p.Arg1434Cys	rs374747883	missense variant	-	NC_000006.12:g.158503963C>T	ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1434His	rs1000461301	missense variant	-	NC_000006.12:g.158503964G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1434Gly	rs374747883	missense variant	-	NC_000006.12:g.158503963C>G	ESP,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ser1435Phe	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158503967C>T	NCI-TCGA
TULP4	Q9NRJ4	p.Pro1436Leu	rs774255031	missense variant	-	NC_000006.12:g.158503970C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Pro1436Ser	COSM1441872	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158503969C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Arg1437Gln	rs148065194	missense variant	-	NC_000006.12:g.158503973G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1437Trp	rs143590465	missense variant	-	NC_000006.12:g.158503972C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1437Leu	rs148065194	missense variant	-	NC_000006.12:g.158503973G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1439Thr	rs371614011	missense variant	-	NC_000006.12:g.158503978G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1440Ser	rs374975930	missense variant	-	NC_000006.12:g.158503981G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu1441Lys	rs756846764	missense variant	-	NC_000006.12:g.158503984G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Leu1442Met	rs1378406034	missense variant	-	NC_000006.12:g.158503987C>A	gnomAD
TULP4	Q9NRJ4	p.Glu1444Lys	rs1443238993	missense variant	-	NC_000006.12:g.158503993G>A	gnomAD
TULP4	Q9NRJ4	p.Glu1444Asp	rs780984822	missense variant	-	NC_000006.12:g.158503995G>C	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1445Val	rs745747747	missense variant	-	NC_000006.12:g.158503997C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Lys1446Arg	rs749111822	missense variant	-	NC_000006.12:g.158504000A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Cys1447Gly	rs1481221879	missense variant	-	NC_000006.12:g.158504002T>G	TOPMed
TULP4	Q9NRJ4	p.Arg1448Trp	rs774682466	missense variant	-	NC_000006.12:g.158504005C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1448Gln	rs74608225	missense variant	-	NC_000006.12:g.158504006G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1448Gly	rs774682466	missense variant	-	NC_000006.12:g.158504005C>G	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1449Gln	rs761215348	missense variant	-	NC_000006.12:g.158504009G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1449Trp	rs773179136	missense variant	-	NC_000006.12:g.158504008C>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1450Val	rs767028688	missense variant	-	NC_000006.12:g.158504012C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ser1451Thr	rs1345792286	missense variant	-	NC_000006.12:g.158504015G>C	TOPMed
TULP4	Q9NRJ4	p.Ser1451Gly	rs1428817936	missense variant	-	NC_000006.12:g.158504014A>G	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Lys1453Glu	rs754228324	missense variant	-	NC_000006.12:g.158504020A>G	ExAC,TOPMed
TULP4	Q9NRJ4	p.Glu1454Lys	rs1371178919	missense variant	-	NC_000006.12:g.158504023G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Glu1454Gln	rs1371178919	missense variant	-	NC_000006.12:g.158504023G>C	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1456Arg	rs763643235	missense variant	-	NC_000006.12:g.158504029G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1457Gln	rs200613954	missense variant	-	NC_000006.12:g.158504033G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1457Trp	rs751290022	missense variant	-	NC_000006.12:g.158504032C>T	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gly1462Arg	rs1432427457	missense variant	-	NC_000006.12:g.158504047G>C	TOPMed
TULP4	Q9NRJ4	p.Gly1462Cys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158504047G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Gly1462Asp	rs1324866311	missense variant	-	NC_000006.12:g.158504048G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1464Leu	rs374827236	missense variant	-	NC_000006.12:g.158504053G>C	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1464Met	rs374827236	missense variant	-	NC_000006.12:g.158504053G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1464Ala	rs1337658456	missense variant	-	NC_000006.12:g.158504054T>C	gnomAD
TULP4	Q9NRJ4	p.Val1466Met	rs141683209	missense variant	-	NC_000006.12:g.158504059G>A	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Val1466Leu	COSM1441874	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158504059G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Val1466Leu	rs141683209	missense variant	-	NC_000006.12:g.158504059G>C	ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met1467Val	rs1258549258	missense variant	-	NC_000006.12:g.158504062A>G	TOPMed
TULP4	Q9NRJ4	p.Ala1468Ser	COSM3860068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158504065G>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Ala1468Val	rs1485896421	missense variant	-	NC_000006.12:g.158504066C>T	gnomAD
TULP4	Q9NRJ4	p.Asn1469Lys	rs1206336548	missense variant	-	NC_000006.12:g.158504070C>A	gnomAD
TULP4	Q9NRJ4	p.Leu1473Met	rs1041700042	missense variant	-	NC_000006.12:g.158504080C>A	TOPMed
TULP4	Q9NRJ4	p.Asn1475Ser	rs1188410945	missense variant	-	NC_000006.12:g.158504087A>G	gnomAD
TULP4	Q9NRJ4	p.Glu1476Lys	rs1474225838	missense variant	-	NC_000006.12:g.158504089G>A	gnomAD
TULP4	Q9NRJ4	p.Ala1477Thr	rs771544676	missense variant	-	NC_000006.12:g.158504092G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Gln1482Pro	rs1383091048	missense variant	-	NC_000006.12:g.158504108A>C	gnomAD
TULP4	Q9NRJ4	p.Phe1485Leu	rs777338744	missense variant	-	NC_000006.12:g.158504118C>A	ExAC,TOPMed
TULP4	Q9NRJ4	p.Gly1486Arg	rs199660698	missense variant	-	NC_000006.12:g.158504119G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Gly1486Ala	rs1355877861	missense variant	-	NC_000006.12:g.158504120G>C	TOPMed
TULP4	Q9NRJ4	p.Arg1488Gln	rs1318008139	missense variant	-	NC_000006.12:g.158504126G>A	TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1488Trp	rs1312664843	missense variant	-	NC_000006.12:g.158504125C>T	gnomAD
TULP4	Q9NRJ4	p.Thr1490Ile	rs1258376331	missense variant	-	NC_000006.12:g.158504132C>T	gnomAD
TULP4	Q9NRJ4	p.Ala1494Thr	rs1211158748	missense variant	-	NC_000006.12:g.158504143G>A	gnomAD
TULP4	Q9NRJ4	p.Phe1497Tyr	rs961757052	missense variant	-	NC_000006.12:g.158504153T>A	TOPMed
TULP4	Q9NRJ4	p.Phe1497Leu	rs767105712	missense variant	-	NC_000006.12:g.158504154C>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Glu1500Gln	rs1484578265	missense variant	-	NC_000006.12:g.158504161G>C	gnomAD
TULP4	Q9NRJ4	p.Arg1504Gly	rs1420741399	missense variant	-	NC_000006.12:g.158504173C>G	gnomAD
TULP4	Q9NRJ4	p.Arg1504Trp	COSM3860069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.158504173C>T	NCI-TCGA Cosmic
TULP4	Q9NRJ4	p.Arg1504Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158504174G>T	NCI-TCGA
TULP4	Q9NRJ4	p.Arg1504Gln	rs749901873	missense variant	-	NC_000006.12:g.158504174G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Met1507Val	rs1368404550	missense variant	-	NC_000006.12:g.158506581A>G	gnomAD
TULP4	Q9NRJ4	p.Gly1514Asp	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158506603G>A	NCI-TCGA
TULP4	Q9NRJ4	p.Ser1515Asn	rs750133303	missense variant	-	NC_000006.12:g.158506606G>A	ExAC,gnomAD
TULP4	Q9NRJ4	p.Ala1516Gly	rs138246958	missense variant	-	NC_000006.12:g.158506609C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ala1516Val	rs138246958	missense variant	-	NC_000006.12:g.158506609C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Ile1518Leu	rs1169181394	missense variant	-	NC_000006.12:g.158506614A>C	TOPMed
TULP4	Q9NRJ4	p.Phe1521Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158506623T>G	NCI-TCGA
TULP4	Q9NRJ4	p.Gln1522Arg	rs752518412	missense variant	-	NC_000006.12:g.158506627A>G	ExAC,gnomAD
TULP4	Q9NRJ4	p.Tyr1523Cys	rs541320923	missense variant	-	NC_000006.12:g.158506630A>G	1000Genomes,ExAC,gnomAD
TULP4	Q9NRJ4	p.Tyr1523His	rs1371179081	missense variant	-	NC_000006.12:g.158506629T>C	TOPMed
TULP4	Q9NRJ4	p.Pro1524Leu	rs1189186554	missense variant	-	NC_000006.12:g.158506633C>T	gnomAD
TULP4	Q9NRJ4	p.Phe1525Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158506637C>A	NCI-TCGA
TULP4	Q9NRJ4	p.Ser1526Ala	rs1052291674	missense variant	-	NC_000006.12:g.158506638T>G	TOPMed
TULP4	Q9NRJ4	p.Val1528Met	rs748142377	missense variant	-	NC_000006.12:g.158506644G>A	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Asn1537Ser	rs1178170490	missense variant	-	NC_000006.12:g.158506672A>G	gnomAD
TULP4	Q9NRJ4	p.Val1538Leu	rs775908189	missense variant	-	NC_000006.12:g.158506674G>T	ExAC,TOPMed,gnomAD
TULP4	Q9NRJ4	p.Arg1541His	NCI-TCGA novel	missense variant	-	NC_000006.12:g.158506684G>A	NCI-TCGA
INPP5E	Q9NRR6	p.Pro2Ser	rs1399373117	missense variant	-	NC_000009.12:g.136439416G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Lys4Met	rs1057306367	missense variant	-	NC_000009.12:g.136439409T>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Lys4Gln	rs894617448	missense variant	-	NC_000009.12:g.136439410T>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Lys4Thr	rs1057306367	missense variant	-	NC_000009.12:g.136439409T>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala5Thr	rs1164272461	missense variant	-	NC_000009.12:g.136439407C>T	gnomAD
INPP5E	Q9NRR6	p.Glu6Asp	rs1461388293	missense variant	-	NC_000009.12:g.136439402C>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asn7Asp	rs1483340858	missense variant	-	NC_000009.12:g.136439401T>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu8Val	rs982814371	missense variant	-	NC_000009.12:g.136439398G>C	TOPMed
INPP5E	Q9NRR6	p.Pro10Ala	rs1195255984	missense variant	-	NC_000009.12:g.136439392G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro10Ser	rs1195255984	missense variant	-	NC_000009.12:g.136439392G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro10Leu	rs1225831267	missense variant	-	NC_000009.12:g.136439391G>A	gnomAD
INPP5E	Q9NRR6	p.Ser11Phe	rs1477926483	missense variant	-	NC_000009.12:g.136439388G>A	gnomAD
INPP5E	Q9NRR6	p.Glu12Asp	rs1332404967	missense variant	-	NC_000009.12:g.136439384C>G	TOPMed
INPP5E	Q9NRR6	p.Glu12Gly	rs1029781765	missense variant	-	NC_000009.12:g.136439385T>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro13Leu	rs1453183713	missense variant	-	NC_000009.12:g.136439382G>A	gnomAD
INPP5E	Q9NRR6	p.Ala14Ser	rs1290338516	missense variant	-	NC_000009.12:g.136439380C>A	gnomAD
INPP5E	Q9NRR6	p.Ala14Thr	rs1290338516	missense variant	-	NC_000009.12:g.136439380C>T	gnomAD
INPP5E	Q9NRR6	p.Ala14Val	rs976856736	missense variant	-	NC_000009.12:g.136439379G>A	TOPMed
INPP5E	Q9NRR6	p.Pro17Leu	rs776845366	missense variant	-	NC_000009.12:g.136439370G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro18Leu	rs1295075168	missense variant	-	NC_000009.12:g.136439367G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg21Trp	rs886042814	missense variant	-	NC_000009.12:g.136439359T>A	-
INPP5E	Q9NRR6	p.Arg21Trp	RCV000351098	missense variant	-	NC_000009.12:g.136439359T>A	ClinVar
INPP5E	Q9NRR6	p.Thr22Arg	rs556184252	missense variant	-	NC_000009.12:g.136439355G>C	1000Genomes,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly25Val	rs1269899727	missense variant	-	NC_000009.12:g.136439346C>A	gnomAD
INPP5E	Q9NRR6	p.Pro28Leu	rs1333129757	missense variant	-	NC_000009.12:g.136439337G>A	gnomAD
INPP5E	Q9NRR6	p.Ala30Val	rs1440765888	missense variant	-	NC_000009.12:g.136439331G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro31Ala	rs1392971117	missense variant	-	NC_000009.12:g.136439329G>C	gnomAD
INPP5E	Q9NRR6	p.Pro32Arg	rs1018506310	missense variant	-	NC_000009.12:g.136439325G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro32Leu	rs1018506310	missense variant	-	NC_000009.12:g.136439325G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gln34Arg	rs1418350214	missense variant	-	NC_000009.12:g.136439319T>C	gnomAD
INPP5E	Q9NRR6	p.Gln34Lys	rs1465742774	missense variant	-	NC_000009.12:g.136439320G>T	gnomAD
INPP5E	Q9NRR6	p.Arg35Cys	rs1301355865	missense variant	-	NC_000009.12:g.136439317G>A	gnomAD
INPP5E	Q9NRR6	p.Ala36Gly	rs771207750	missense variant	-	NC_000009.12:g.136439313G>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro39Leu	rs1200457166	missense variant	-	NC_000009.12:g.136439304G>A	TOPMed
INPP5E	Q9NRR6	p.Pro39Ser	rs1007653647	missense variant	-	NC_000009.12:g.136439305G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro40Ser	rs1247021274	missense variant	-	NC_000009.12:g.136439302G>A	gnomAD
INPP5E	Q9NRR6	p.Asp41Asn	rs778156063	missense variant	-	NC_000009.12:g.136439299C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly44Asp	rs1200598959	missense variant	-	NC_000009.12:g.136439289C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Glu46Lys	rs886063713	missense variant	-	NC_000009.12:g.136439284C>T	-
INPP5E	Q9NRR6	p.Glu46Lys	RCV000322670	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136439284C>T	ClinVar
INPP5E	Q9NRR6	p.Ser47Asn	rs1438401428	missense variant	-	NC_000009.12:g.136439280C>T	gnomAD
INPP5E	Q9NRR6	p.Ala49Thr	rs1033200510	missense variant	-	NC_000009.12:g.136439275C>T	TOPMed
INPP5E	Q9NRR6	p.Ala49Val	rs998603745	missense variant	-	NC_000009.12:g.136439274G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala51Pro	rs1212975635	missense variant	-	NC_000009.12:g.136439269C>G	gnomAD
INPP5E	Q9NRR6	p.Ser53Gly	rs758796987	missense variant	-	NC_000009.12:g.136439263T>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Thr54Ile	rs1234082483	missense variant	-	NC_000009.12:g.136439259G>A	gnomAD
INPP5E	Q9NRR6	p.Thr54Pro	rs1405371293	missense variant	-	NC_000009.12:g.136439260T>G	TOPMed
INPP5E	Q9NRR6	p.Pro55Ala	rs1302116437	missense variant	-	NC_000009.12:g.136439257G>C	TOPMed
INPP5E	Q9NRR6	p.Thr57Lys	rs1343315812	missense variant	-	NC_000009.12:g.136439250G>T	TOPMed
INPP5E	Q9NRR6	p.Ser59Asn	rs1295677174	missense variant	-	NC_000009.12:g.136439244C>T	TOPMed
INPP5E	Q9NRR6	p.Pro63Leu	rs1415787879	missense variant	-	NC_000009.12:g.136439232G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro63Arg	rs1415787879	missense variant	-	NC_000009.12:g.136439232G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro63Ser	rs1326309360	missense variant	-	NC_000009.12:g.136439233G>A	gnomAD
INPP5E	Q9NRR6	p.Pro64Gln	rs1172765521	missense variant	-	NC_000009.12:g.136439229G>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro64Arg	rs1172765521	missense variant	-	NC_000009.12:g.136439229G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro64Ser	rs1425486904	missense variant	-	NC_000009.12:g.136439230G>A	gnomAD
INPP5E	Q9NRR6	p.Ala65Thr	rs993885630	missense variant	-	NC_000009.12:g.136439227C>T	TOPMed
INPP5E	Q9NRR6	p.Arg66Gln	rs778236228	missense variant	-	NC_000009.12:g.136439223C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro69Leu	rs1469583572	missense variant	-	NC_000009.12:g.136439214G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro69Ser	rs1426854196	missense variant	-	NC_000009.12:g.136439215G>A	gnomAD
INPP5E	Q9NRR6	p.Pro69His	rs1469583572	missense variant	-	NC_000009.12:g.136439214G>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ile70Val	rs1202573963	missense variant	-	NC_000009.12:g.136439212T>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ile70Leu	rs1202573963	missense variant	-	NC_000009.12:g.136439212T>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro72Leu	rs1346089220	missense variant	-	NC_000009.12:g.136439205G>A	gnomAD
INPP5E	Q9NRR6	p.Pro72Ser	rs753362488	missense variant	-	NC_000009.12:g.136439206G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg73Trp	rs779841260	missense variant	-	NC_000009.12:g.136439203G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg73Gln	rs1224781766	missense variant	-	NC_000009.12:g.136439202C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro74Ser	rs755881439	missense variant	-	NC_000009.12:g.136439200G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro74Ala	rs755881439	missense variant	-	NC_000009.12:g.136439200G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro74Leu	rs750213296	missense variant	-	NC_000009.12:g.136439199G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg77Lys	rs1432492746	missense variant	-	NC_000009.12:g.136439190C>T	gnomAD
INPP5E	Q9NRR6	p.Pro78Ser	rs1480292800	missense variant	-	NC_000009.12:g.136439188G>A	gnomAD
INPP5E	Q9NRR6	p.Arg79Gly	rs761611233	missense variant	-	NC_000009.12:g.136439185G>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg79Leu	rs1159056595	missense variant	-	NC_000009.12:g.136439184C>A	gnomAD
INPP5E	Q9NRR6	p.Leu80Pro	rs1418402713	missense variant	-	NC_000009.12:g.136439181A>G	gnomAD
INPP5E	Q9NRR6	p.Leu80Val	rs1288895508	missense variant	-	NC_000009.12:g.136439182G>C	TOPMed
INPP5E	Q9NRR6	p.Arg82Gly	rs751533117	missense variant	-	NC_000009.12:g.136439176G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala83Val	rs867173264	missense variant	-	NC_000009.12:g.136439172G>A	TOPMed
INPP5E	Q9NRR6	p.Ala83Asp	rs867173264	missense variant	-	NC_000009.12:g.136439172G>T	TOPMed
INPP5E	Q9NRR6	p.Ala83Thr	rs1016285166	missense variant	-	NC_000009.12:g.136439173C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu84Val	rs759659346	missense variant	-	NC_000009.12:g.136439170G>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser85Cys	rs1484828181	missense variant	-	NC_000009.12:g.136439166G>C	gnomAD
INPP5E	Q9NRR6	p.Leu86Val	rs552270496	missense variant	-	NC_000009.12:g.136439164G>C	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp88Gly	rs1057482033	missense variant	-	NC_000009.12:g.136439157T>C	gnomAD
INPP5E	Q9NRR6	p.Lys89Arg	rs909863600	missense variant	-	NC_000009.12:g.136439154T>C	TOPMed
INPP5E	Q9NRR6	p.Gly90Ser	rs938893997	missense variant	-	NC_000009.12:g.136439152C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Trp91Leu	rs773522021	missense variant	-	NC_000009.12:g.136439148C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Trp91Ser	rs773522021	missense variant	-	NC_000009.12:g.136439148C>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Trp91Gly	rs1042115397	missense variant	-	NC_000009.12:g.136439149A>C	TOPMed
INPP5E	Q9NRR6	p.Arg93Ser	rs1057520153	missense variant	-	NC_000009.12:g.136439141C>A	-
INPP5E	Q9NRR6	p.Arg93Ser	RCV000434879	missense variant	-	NC_000009.12:g.136439141C>A	ClinVar
INPP5E	Q9NRR6	p.Arg94Thr	rs1485569904	missense variant	-	NC_000009.12:g.136439139C>G	TOPMed
INPP5E	Q9NRR6	p.Arg94Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136439138C>A	NCI-TCGA
INPP5E	Q9NRR6	p.Arg95Cys	rs1445170514	missense variant	-	NC_000009.12:g.136439137G>A	TOPMed
INPP5E	Q9NRR6	p.Arg95Leu	rs192637923	missense variant	-	NC_000009.12:g.136439136C>A	1000Genomes,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg95His	rs192637923	missense variant	-	NC_000009.12:g.136439136C>T	1000Genomes,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser99Thr	rs1289208821	missense variant	-	NC_000009.12:g.136439124C>G	gnomAD
INPP5E	Q9NRR6	p.Gln100Ter	rs1452867080	stop gained	-	NC_000009.12:g.136439122G>A	gnomAD
INPP5E	Q9NRR6	p.Glu101Gln	rs566641584	missense variant	-	NC_000009.12:g.136439119C>G	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asp102Tyr	rs187724945	missense variant	-	NC_000009.12:g.136439116C>A	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asp102Asn	rs187724945	missense variant	-	NC_000009.12:g.136439116C>T	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Glu104Gln	rs1405900741	missense variant	-	NC_000009.12:g.136439110C>G	gnomAD
INPP5E	Q9NRR6	p.Glu104Val	rs748786705	missense variant	-	NC_000009.12:g.136439109T>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala105Val	rs779751422	missense variant	-	NC_000009.12:g.136439106G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala105Ser	rs1164345207	missense variant	-	NC_000009.12:g.136439107C>A	gnomAD
INPP5E	Q9NRR6	p.Arg106Gln	rs750127451	missense variant	-	NC_000009.12:g.136439103C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg106Leu	rs750127451	missense variant	-	NC_000009.12:g.136439103C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly108Arg	rs757082393	missense variant	-	NC_000009.12:g.136439098C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly108Glu	rs562484803	missense variant	-	NC_000009.12:g.136439097C>T	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Thr109Ser	rs1032671925	missense variant	-	NC_000009.12:g.136439095T>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser110Thr	rs762843928	missense variant	-	NC_000009.12:g.136439091C>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro111Leu	rs1314746769	missense variant	-	NC_000009.12:g.136439088G>A	TOPMed
INPP5E	Q9NRR6	p.Pro111Ser	rs766472975	missense variant	-	NC_000009.12:g.136439089G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser112Phe	rs1295932398	missense variant	-	NC_000009.12:g.136439085G>A	gnomAD
INPP5E	Q9NRR6	p.Ser112Cys	rs1295932398	missense variant	-	NC_000009.12:g.136439085G>C	gnomAD
INPP5E	Q9NRR6	p.Gly114Asp	rs1295096267	missense variant	-	NC_000009.12:g.136439079C>T	gnomAD
INPP5E	Q9NRR6	p.Ser115Ter	rs773436168	stop gained	-	NC_000009.12:g.136439076G>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gln117Arg	rs1460001255	missense variant	-	NC_000009.12:g.136439070T>C	gnomAD
INPP5E	Q9NRR6	p.Gln117His	rs1425875157	missense variant	-	NC_000009.12:g.136439069C>G	gnomAD
INPP5E	Q9NRR6	p.Gln117Ter	rs1164283308	stop gained	-	NC_000009.12:g.136439071G>A	gnomAD
INPP5E	Q9NRR6	p.Glu119Lys	rs1428164960	missense variant	-	NC_000009.12:g.136439065C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro121Ser	rs1193322281	missense variant	-	NC_000009.12:g.136439059G>A	gnomAD
INPP5E	Q9NRR6	p.Gly122Arg	rs1252990086	missense variant	-	NC_000009.12:g.136439056C>T	gnomAD
INPP5E	Q9NRR6	p.Gly122Glu	rs1211274207	missense variant	-	NC_000009.12:g.136439055C>T	gnomAD
INPP5E	Q9NRR6	p.Ala123Asp	rs769176351	missense variant	-	NC_000009.12:g.136439052G>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala123Val	rs769176351	missense variant	-	NC_000009.12:g.136439052G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala123Pro	rs774630007	missense variant	-	NC_000009.12:g.136439053C>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala123Ser	rs774630007	missense variant	-	NC_000009.12:g.136439053C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala123Thr	rs774630007	missense variant	-	NC_000009.12:g.136439053C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro124Ala	rs1226181643	missense variant	-	NC_000009.12:g.136439050G>C	gnomAD
INPP5E	Q9NRR6	p.Pro124Leu	rs1305443439	missense variant	-	NC_000009.12:g.136439049G>A	gnomAD
INPP5E	Q9NRR6	p.Ala125Pro	rs749845422	missense variant	-	NC_000009.12:g.136439047C>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala125Thr	rs749845422	missense variant	-	NC_000009.12:g.136439047C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.His126Arg	rs779663196	missense variant	-	NC_000009.12:g.136439043T>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Cys128Phe	rs769446973	missense variant	-	NC_000009.12:g.136439037C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser129Cys	rs745450500	missense variant	-	NC_000009.12:g.136439034G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser129Phe	rs745450500	missense variant	-	NC_000009.12:g.136439034G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro131Leu	rs756921162	missense variant	-	NC_000009.12:g.136439028G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro131Ser	rs1398662716	missense variant	-	NC_000009.12:g.136439029G>A	gnomAD
INPP5E	Q9NRR6	p.Cys132Tyr	rs1461641297	missense variant	-	NC_000009.12:g.136439025C>T	gnomAD
INPP5E	Q9NRR6	p.Ser134Arg	rs372930430	missense variant	-	NC_000009.12:g.136439020T>G	ESP,ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser136Phe	rs1455030345	missense variant	-	NC_000009.12:g.136439013G>A	gnomAD
INPP5E	Q9NRR6	p.Leu137Phe	rs1406791599	missense variant	-	NC_000009.12:g.136439009C>A	TOPMed
INPP5E	Q9NRR6	p.Gln138Lys	rs777466600	missense variant	-	NC_000009.12:g.136439008G>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gln138His	rs1192243024	missense variant	-	NC_000009.12:g.136439006C>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro141His	rs954591293	missense variant	-	NC_000009.12:g.136438998G>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg144Gly	rs1479443394	missense variant	-	NC_000009.12:g.136438990G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg144Cys	rs1479443394	missense variant	-	NC_000009.12:g.136438990G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg144Leu	rs868636012	missense variant	-	NC_000009.12:g.136438989C>A	TOPMed
INPP5E	Q9NRR6	p.Gly145Arg	rs752649797	missense variant	-	NC_000009.12:g.136438987C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser148Ter	RCV000722552	frameshift	-	NC_000009.12:g.136438974_136438977del	ClinVar
INPP5E	Q9NRR6	p.Glu150Asp	rs1336319671	missense variant	-	NC_000009.12:g.136438970C>G	gnomAD
INPP5E	Q9NRR6	p.Glu150Lys	rs1301004362	missense variant	-	NC_000009.12:g.136438972C>T	gnomAD
INPP5E	Q9NRR6	p.Glu150Gly	rs750566132	missense variant	-	NC_000009.12:g.136438971T>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg151Ser	rs374675444	missense variant	-	NC_000009.12:g.136438967T>A	ESP
INPP5E	Q9NRR6	p.Ser153Cys	rs1307767005	missense variant	-	NC_000009.12:g.136438963T>A	gnomAD
INPP5E	Q9NRR6	p.Pro154Ser	rs565209005	missense variant	-	NC_000009.12:g.136438960G>A	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly157Trp	rs78211353	missense variant	-	NC_000009.12:g.136438951C>A	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly157Val	rs1375169715	missense variant	-	NC_000009.12:g.136438950C>A	gnomAD
INPP5E	Q9NRR6	p.Gly157Glu	rs1375169715	missense variant	-	NC_000009.12:g.136438950C>T	gnomAD
INPP5E	Q9NRR6	p.Gly158Asp	rs1455781081	missense variant	-	NC_000009.12:g.136438947C>T	gnomAD
INPP5E	Q9NRR6	p.Gly158Ter	RCV000522108	frameshift	-	NC_000009.12:g.136438952del	ClinVar
INPP5E	Q9NRR6	p.Gly158Cys	rs1172203645	missense variant	-	NC_000009.12:g.136438948C>A	gnomAD
INPP5E	Q9NRR6	p.Asn159Lys	rs1364931238	missense variant	-	NC_000009.12:g.136438943G>T	gnomAD
INPP5E	Q9NRR6	p.Pro160Arg	rs774738007	missense variant	-	NC_000009.12:g.136438941G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro160Leu	rs774738007	missense variant	-	NC_000009.12:g.136438941G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly163Val	rs1413495284	missense variant	-	NC_000009.12:g.136438932C>A	gnomAD
INPP5E	Q9NRR6	p.Val164Leu	rs1257673510	missense variant	-	NC_000009.12:g.136438930C>G	gnomAD
INPP5E	Q9NRR6	p.Val164Ter	RCV000298972	frameshift	-	NC_000009.12:g.136438933dup	ClinVar
INPP5E	Q9NRR6	p.Val164Leu	rs1257673510	missense variant	-	NC_000009.12:g.136438930C>A	gnomAD
INPP5E	Q9NRR6	p.Ala165Gly	rs1277886267	missense variant	-	NC_000009.12:g.136438926G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala165Val	rs1277886267	missense variant	-	NC_000009.12:g.136438926G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala165Thr	rs1012957991	missense variant	-	NC_000009.12:g.136438927C>T	gnomAD
INPP5E	Q9NRR6	p.Ser167Gly	rs1218581500	missense variant	-	NC_000009.12:g.136438921T>C	gnomAD
INPP5E	Q9NRR6	p.Ser167Arg	rs764388194	missense variant	-	NC_000009.12:g.136438919G>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro169Leu	rs1232108345	missense variant	-	NC_000009.12:g.136438914G>A	TOPMed
INPP5E	Q9NRR6	p.Pro169Ser	rs573292248	missense variant	-	NC_000009.12:g.136438915G>A	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Asn170Lys	rs778210239	missense variant	-	NC_000009.12:g.136438910G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro172Leu	rs770493776	missense variant	-	NC_000009.12:g.136438905G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro172Arg	rs770493776	missense variant	-	NC_000009.12:g.136438905G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.His173Tyr	rs776051206	missense variant	-	NC_000009.12:g.136438903G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg174Gly	rs929956067	missense variant	-	NC_000009.12:g.136438900T>C	TOPMed
INPP5E	Q9NRR6	p.Ala177Val	rs1384336987	missense variant	-	NC_000009.12:g.136438890G>A	gnomAD
INPP5E	Q9NRR6	p.Val178Met	rs376003129	missense variant	-	NC_000009.12:g.136438888C>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val178Leu	rs376003129	missense variant	-	NC_000009.12:g.136438888C>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala179Thr	rs1452284039	missense variant	-	NC_000009.12:g.136438885C>T	gnomAD
INPP5E	Q9NRR6	p.Gly180Val	rs1354350052	missense variant	-	NC_000009.12:g.136438881C>A	TOPMed
INPP5E	Q9NRR6	p.Ser181Gly	rs758203217	missense variant	-	NC_000009.12:g.136438879T>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro183Thr	rs754964359	missense variant	-	NC_000009.12:g.136438873G>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro183Ser	RCV000381186	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136438873G>A	ClinVar
INPP5E	Q9NRR6	p.Pro183Ser	rs754964359	missense variant	-	NC_000009.12:g.136438873G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu185Gln	rs372412898	missense variant	-	NC_000009.12:g.136438866A>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu185Gln	RCV000636940	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136438866A>T	ClinVar
INPP5E	Q9NRR6	p.Pro186Leu	rs1260795928	missense variant	-	NC_000009.12:g.136438863G>A	gnomAD
INPP5E	Q9NRR6	p.Pro186Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136438864G>A	NCI-TCGA
INPP5E	Q9NRR6	p.Ser187Gly	rs1203260394	missense variant	-	NC_000009.12:g.136438861T>C	gnomAD
INPP5E	Q9NRR6	p.Ser187Asn	rs575967532	missense variant	-	NC_000009.12:g.136438860C>T	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser187Ile	rs575967532	missense variant	-	NC_000009.12:g.136438860C>A	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro190Thr	rs1275095998	missense variant	-	NC_000009.12:g.136438852G>T	gnomAD
INPP5E	Q9NRR6	p.Pro190Arg	rs1234036011	missense variant	-	NC_000009.12:g.136438851G>C	gnomAD
INPP5E	Q9NRR6	p.Pro191Ser	rs1291740539	missense variant	-	NC_000009.12:g.136438849G>A	gnomAD
INPP5E	Q9NRR6	p.Pro191Arg	rs61734181	missense variant	-	NC_000009.12:g.136438848G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro191Arg	RCV000117262	missense variant	-	NC_000009.12:g.136438848G>C	ClinVar
INPP5E	Q9NRR6	p.Pro191ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136438849_136438850insACATCGCCTCCGACTCCCT	NCI-TCGA
INPP5E	Q9NRR6	p.Arg192His	rs1327339908	missense variant	-	NC_000009.12:g.136438845C>T	gnomAD
INPP5E	Q9NRR6	p.Pro193Leu	rs1339773597	missense variant	-	NC_000009.12:g.136438842G>A	TOPMed
INPP5E	Q9NRR6	p.Pro193Ser	rs763409993	missense variant	-	NC_000009.12:g.136438843G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro194Ser	rs200223403	missense variant	-	NC_000009.12:g.136438840G>A	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro194Ala	rs200223403	missense variant	-	NC_000009.12:g.136438840G>C	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro195Ser	rs765819603	missense variant	-	NC_000009.12:g.136438837G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro195Arg	rs147268679	missense variant	-	NC_000009.12:g.136438836G>C	ESP,ExAC
INPP5E	Q9NRR6	p.Ala196Val	rs371950473	missense variant	-	NC_000009.12:g.136438833G>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala196Ser	rs376043087	missense variant	-	NC_000009.12:g.136438834C>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser198Thr	rs141286608	missense variant	-	NC_000009.12:g.136438827C>G	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser198Asn	rs141286608	missense variant	-	NC_000009.12:g.136438827C>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ile201Met	rs36064831	missense variant	-	NC_000009.12:g.136438817G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ile201Met	rs36064831	missense variant	-	NC_000009.12:g.136438817G>C	UniProt,dbSNP
INPP5E	Q9NRR6	p.Ile201Met	VAR_047078	missense variant	-	NC_000009.12:g.136438817G>C	UniProt
INPP5E	Q9NRR6	p.Ile201Met	RCV000205119	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136438817G>C	ClinVar
INPP5E	Q9NRR6	p.Ser203Pro	rs1253615815	missense variant	-	NC_000009.12:g.136438813A>G	gnomAD
INPP5E	Q9NRR6	p.Ser203Cys	rs1214397440	missense variant	-	NC_000009.12:g.136438812G>C	gnomAD
INPP5E	Q9NRR6	p.Ser203Phe	COSM21653	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136438812G>A	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Asp204Tyr	rs768542252	missense variant	-	NC_000009.12:g.136438810C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp204Asn	rs768542252	missense variant	-	NC_000009.12:g.136438810C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp204Gly	rs1287836359	missense variant	-	NC_000009.12:g.136438809T>C	gnomAD
INPP5E	Q9NRR6	p.Ser205Pro	rs1216505048	missense variant	-	NC_000009.12:g.136438807A>G	gnomAD
INPP5E	Q9NRR6	p.Thr208Ile	rs143107549	missense variant	-	NC_000009.12:g.136438797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Thr208Ala	rs1373822065	missense variant	-	NC_000009.12:g.136438798T>C	gnomAD
INPP5E	Q9NRR6	p.Thr208Ile	RCV000537965	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136438797G>A	ClinVar
INPP5E	Q9NRR6	p.Thr208Ile	RCV000839869	missense variant	-	NC_000009.12:g.136438797G>A	ClinVar
INPP5E	Q9NRR6	p.Thr208Lys	rs143107549	missense variant	-	NC_000009.12:g.136438797G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asn210Asp	rs753077558	missense variant	-	NC_000009.12:g.136438792T>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Val212Gly	rs533861933	missense variant	-	NC_000009.12:g.136438785A>C	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp213Tyr	rs1165929856	missense variant	-	NC_000009.12:g.136438783C>A	gnomAD
INPP5E	Q9NRR6	p.Asp213Ala	rs1390460638	missense variant	-	NC_000009.12:g.136438782T>G	gnomAD
INPP5E	Q9NRR6	p.Ser214Leu	rs1046935939	missense variant	-	NC_000009.12:g.136438779G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu216Val	rs994157744	missense variant	-	NC_000009.12:g.136438774G>C	TOPMed
INPP5E	Q9NRR6	p.Asp218Ala	rs753519048	missense variant	-	NC_000009.12:g.136438767T>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Tyr219Asp	rs374690864	missense variant	-	NC_000009.12:g.136438765A>C	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Tyr219Cys	rs1269505347	missense variant	-	NC_000009.12:g.136438764T>C	TOPMed
INPP5E	Q9NRR6	p.Leu221Pro	rs942793713	missense variant	-	NC_000009.12:g.136438758A>G	TOPMed
INPP5E	Q9NRR6	p.Leu221Phe	rs1041567284	missense variant	-	NC_000009.12:g.136438759G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro225Arg	rs991472201	missense variant	-	NC_000009.12:g.136438746G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu226Phe	rs761485683	missense variant	-	NC_000009.12:g.136438744G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu227Val	rs547974643	missense variant	-	NC_000009.12:g.136438741G>C	1000Genomes,gnomAD
INPP5E	Q9NRR6	p.Leu227Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136438740A>C	NCI-TCGA
INPP5E	Q9NRR6	p.Val228Met	rs1281522733	missense variant	-	NC_000009.12:g.136438738C>T	gnomAD
INPP5E	Q9NRR6	p.Arg229Trp	rs774085718	missense variant	-	NC_000009.12:g.136438735G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg229Gln	rs768453555	missense variant	-	NC_000009.12:g.136438734C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala230Thr	rs1442380202	missense variant	-	NC_000009.12:g.136438732C>T	gnomAD
INPP5E	Q9NRR6	p.His231Arg	rs779854628	missense variant	-	NC_000009.12:g.136438728T>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser232Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136438724G>T	NCI-TCGA
INPP5E	Q9NRR6	p.Ser232Cys	rs769831459	missense variant	-	NC_000009.12:g.136438726T>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser233Gly	rs1172820622	missense variant	-	NC_000009.12:g.136438723T>C	gnomAD
INPP5E	Q9NRR6	p.Ser233Thr	rs568767788	missense variant	-	NC_000009.12:g.136438722C>G	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly235Asp	rs758650948	missense variant	-	NC_000009.12:g.136438716C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro236Ala	rs1470515038	missense variant	-	NC_000009.12:g.136438714G>C	gnomAD
INPP5E	Q9NRR6	p.Arg238Gln	rs760298042	missense variant	-	NC_000009.12:g.136438707C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg238Leu	rs760298042	missense variant	-	NC_000009.12:g.136438707C>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg240Gln	rs1281458046	missense variant	-	NC_000009.12:g.136438701C>T	gnomAD
INPP5E	Q9NRR6	p.Pro242Arg	rs1053959890	missense variant	-	NC_000009.12:g.136438695G>C	TOPMed
INPP5E	Q9NRR6	p.Cys245Ser	rs1387485414	missense variant	-	NC_000009.12:g.136438686C>G	TOPMed
INPP5E	Q9NRR6	p.Asp246Glu	rs1349268574	missense variant	-	NC_000009.12:g.136438682G>T	gnomAD
INPP5E	Q9NRR6	p.Asp247Asn	rs749897420	missense variant	-	NC_000009.12:g.136438681C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp247Tyr	rs749897420	missense variant	-	NC_000009.12:g.136438681C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Cys248Phe	rs767038608	missense variant	-	NC_000009.12:g.136438677C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser249Tyr	rs550485638	missense variant	-	NC_000009.12:g.136438674G>T	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser249Cys	rs550485638	missense variant	-	NC_000009.12:g.136438674G>C	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser249Phe	rs550485638	missense variant	-	NC_000009.12:g.136438674G>A	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg251Pro	rs201792737	missense variant	-	NC_000009.12:g.136438668C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg251Leu	rs201792737	missense variant	-	NC_000009.12:g.136438668C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg251His	rs201792737	missense variant	-	NC_000009.12:g.136438668C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser252Pro	rs775406790	missense variant	-	NC_000009.12:g.136438666A>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser252Leu	rs368053206	missense variant	-	NC_000009.12:g.136438665G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser252Trp	rs368053206	missense variant	-	NC_000009.12:g.136438665G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala253Ser	rs745845949	missense variant	-	NC_000009.12:g.136438663C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala253Thr	rs745845949	missense variant	-	NC_000009.12:g.136438663C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser255Phe	rs368817877	missense variant	-	NC_000009.12:g.136438656G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser255Thr	rs1258558365	missense variant	-	NC_000009.12:g.136438657A>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser255Tyr	rs368817877	missense variant	-	NC_000009.12:g.136438656G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Phe257Cys	rs1446967849	missense variant	-	NC_000009.12:g.136438650A>C	gnomAD
INPP5E	Q9NRR6	p.Phe257Leu	rs772286826	missense variant	-	NC_000009.12:g.136438651A>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser258Asn	rs1234653576	missense variant	-	NC_000009.12:g.136438647C>T	gnomAD
INPP5E	Q9NRR6	p.Leu259Ile	rs1335068390	missense variant	-	NC_000009.12:g.136438645G>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu260Met	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136438642G>T	NCI-TCGA
INPP5E	Q9NRR6	p.Ala261Thr	rs779271682	missense variant	-	NC_000009.12:g.136438639C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala261Val	rs528585360	missense variant	-	NC_000009.12:g.136438638G>A	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro262Arg	rs1429900148	missense variant	-	NC_000009.12:g.136438635G>C	gnomAD
INPP5E	Q9NRR6	p.Arg264His	rs202197173	missense variant	-	NC_000009.12:g.136438629C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg264Cys	rs1365683490	missense variant	-	NC_000009.12:g.136438630G>A	TOPMed
INPP5E	Q9NRR6	p.Arg264Ser	rs1365683490	missense variant	-	NC_000009.12:g.136438630G>T	TOPMed
INPP5E	Q9NRR6	p.Arg264His	RCV000251292	missense variant	-	NC_000009.12:g.136438629C>T	ClinVar
INPP5E	Q9NRR6	p.Ser265Arg	rs1158016779	missense variant	-	NC_000009.12:g.136438627T>G	TOPMed
INPP5E	Q9NRR6	p.Asp267Asn	rs750943687	missense variant	-	NC_000009.12:g.136438621C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val268Leu	rs1471019025	missense variant	-	NC_000009.12:g.136438618C>G	TOPMed
INPP5E	Q9NRR6	p.Arg269His	rs766948458	missense variant	-	NC_000009.12:g.136438614C>T	ExAC
INPP5E	Q9NRR6	p.Ser270Arg	rs1422051665	missense variant	-	NC_000009.12:g.136438610G>T	gnomAD
INPP5E	Q9NRR6	p.Ser270Ile	rs1422311278	missense variant	-	NC_000009.12:g.136438611C>A	gnomAD
INPP5E	Q9NRR6	p.Arg271Thr	rs1337285403	missense variant	-	NC_000009.12:g.136438608C>G	TOPMed
INPP5E	Q9NRR6	p.Tyr273Ser	rs1399303625	missense variant	-	NC_000009.12:g.136434858T>G	TOPMed
INPP5E	Q9NRR6	p.Gly276Ser	rs780226706	missense variant	-	NC_000009.12:g.136434850C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser277Arg	rs1305185395	missense variant	-	NC_000009.12:g.136434847T>G	TOPMed
INPP5E	Q9NRR6	p.Ala280Thr	rs746298415	missense variant	-	NC_000009.12:g.136434838C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala280Asp	rs1175962503	missense variant	-	NC_000009.12:g.136434837G>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly282Arg	rs138068434	missense variant	-	NC_000009.12:g.136434832C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala283Thr	rs1310994013	missense variant	-	NC_000009.12:g.136434829C>T	TOPMed
INPP5E	Q9NRR6	p.Ala283Val	rs751040358	missense variant	-	NC_000009.12:g.136434828G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly286Arg	rs757936530	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136434820C>T	UniProt,dbSNP
INPP5E	Q9NRR6	p.Gly286Arg	VAR_077247	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136434820C>T	UniProt
INPP5E	Q9NRR6	p.Gly286Arg	rs757936530	missense variant	-	NC_000009.12:g.136434820C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala287Val	rs752406011	missense variant	-	NC_000009.12:g.136434816G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala291Val	RCV000413564	missense variant	-	NC_000009.12:g.136434804G>A	ClinVar
INPP5E	Q9NRR6	p.Ala291Val	rs759397125	missense variant	-	NC_000009.12:g.136434804G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala291Thr	COSM1461078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136434805C>T	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Arg292Cys	rs753742613	missense variant	-	NC_000009.12:g.136434802G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg292His	rs199873582	missense variant	-	NC_000009.12:g.136434801C>T	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg292Gly	rs753742613	missense variant	-	NC_000009.12:g.136434802G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg292His	rs199873582	missense variant	-	NC_000009.12:g.136434801C>T	NCI-TCGA,NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Arg292Cys	rs753742613	missense variant	-	NC_000009.12:g.136434802G>A	NCI-TCGA
INPP5E	Q9NRR6	p.Arg292His	RCV000194920	missense variant	-	NC_000009.12:g.136434801C>T	ClinVar
INPP5E	Q9NRR6	p.Tyr293Phe	rs145264797	missense variant	-	NC_000009.12:g.136434798T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Tyr293Asn	rs1241112128	missense variant	-	NC_000009.12:g.136434799A>T	gnomAD
INPP5E	Q9NRR6	p.Tyr293Asp	RCV000722301	missense variant	-	NC_000009.12:g.136434799A>C	ClinVar
INPP5E	Q9NRR6	p.Arg297Gln	rs1047244794	missense variant	-	NC_000009.12:g.136434786C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg297Trp	rs547445320	missense variant	-	NC_000009.12:g.136434787G>A	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val299Met	rs763020300	missense variant	-	NC_000009.12:g.136434781C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala300Val	rs1401953159	missense variant	-	NC_000009.12:g.136434777G>A	gnomAD
INPP5E	Q9NRR6	p.Ala300Thr	COSM5549444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136434778C>T	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Phe302Leu	rs140222295	missense variant	-	NC_000009.12:g.136434770G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val303Met	rs746212325	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136434769C>T	UniProt,dbSNP
INPP5E	Q9NRR6	p.Val303Met	VAR_077248	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136434769C>T	UniProt
INPP5E	Q9NRR6	p.Val303Leu	rs746212325	missense variant	-	NC_000009.12:g.136434769C>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val303Leu	rs746212325	missense variant	-	NC_000009.12:g.136434769C>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val303Met	rs746212325	missense variant	-	NC_000009.12:g.136434769C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val303Met	RCV000201762	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136434769C>T	ClinVar
INPP5E	Q9NRR6	p.Ala304Thr	rs1157831514	missense variant	-	NC_000009.12:g.136434766C>T	gnomAD
INPP5E	Q9NRR6	p.Gln309Ter	rs568204894	stop gained	-	NC_000009.12:g.136434751G>A	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gln309Glu	rs568204894	missense variant	-	NC_000009.12:g.136434751G>C	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu314Phe	rs1169433090	missense variant	-	NC_000009.12:g.136434131G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro315Leu	rs754637179	missense variant	-	NC_000009.12:g.136434127G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro315Leu	RCV000201594	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136434127G>A	ClinVar
INPP5E	Q9NRR6	p.Ser317Gly	rs1186646391	missense variant	-	NC_000009.12:g.136434122T>C	gnomAD
INPP5E	Q9NRR6	p.Glu320Lys	rs1254993477	missense variant	-	NC_000009.12:g.136434113C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Phe321Leu	rs779929155	missense variant	-	NC_000009.12:g.136434108G>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Leu322Met	rs1451261136	missense variant	-	NC_000009.12:g.136434107G>T	gnomAD
INPP5E	Q9NRR6	p.Leu322Pro	rs1288078141	missense variant	-	NC_000009.12:g.136434106A>G	gnomAD
INPP5E	Q9NRR6	p.Pro324Ala	rs755969392	missense variant	-	NC_000009.12:g.136434101G>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala325Gly	rs1226884263	missense variant	-	NC_000009.12:g.136434097G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Glu326Lys	rs200794870	missense variant	-	NC_000009.12:g.136434095C>T	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asp328Asn	rs201857820	missense variant	-	NC_000009.12:g.136434089C>T	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Tyr329Phe	rs372066816	missense variant	-	NC_000009.12:g.136434085T>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Tyr329Cys	rs372066816	missense variant	-	NC_000009.12:g.136434085T>C	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala330Val	rs1369760762	missense variant	-	NC_000009.12:g.136434082G>A	gnomAD
INPP5E	Q9NRR6	p.Ala330Thr	rs761085367	missense variant	-	NC_000009.12:g.136434083C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gln331His	rs555308253	missense variant	-	NC_000009.12:g.136434078C>A	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gln331Glu	rs1166437684	missense variant	-	NC_000009.12:g.136434080G>C	gnomAD
INPP5E	Q9NRR6	p.Leu333Val	rs151090087	missense variant	-	NC_000009.12:g.136434074G>C	ESP,ExAC,gnomAD
INPP5E	Q9NRR6	p.Val335Leu	rs1245035123	missense variant	-	NC_000009.12:g.136434068C>G	gnomAD
INPP5E	Q9NRR6	p.Ile336Leu	rs768294500	missense variant	-	NC_000009.12:g.136434065T>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly337Arg	rs368235861	missense variant	-	NC_000009.12:g.136434062C>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly337Arg	rs368235861	missense variant	-	NC_000009.12:g.136434062C>T	NCI-TCGA,NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Gln339Pro	rs1427394436	missense variant	-	NC_000009.12:g.136434055T>G	TOPMed
INPP5E	Q9NRR6	p.Gln339Glu	rs142906644	missense variant	-	NC_000009.12:g.136434056G>C	ESP,ExAC,gnomAD
INPP5E	Q9NRR6	p.Gln339Ter	rs142906644	stop gained	-	NC_000009.12:g.136434056G>A	ESP,ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly341Ser	rs780882740	missense variant	-	NC_000009.12:g.136434050C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly341Ser	RCV000201735	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136434050C>T	ClinVar
INPP5E	Q9NRR6	p.Cys342Arg	rs188488264	missense variant	-	NC_000009.12:g.136434047A>G	1000Genomes,gnomAD
INPP5E	Q9NRR6	p.Ser343Tyr	rs1442522957	missense variant	-	NC_000009.12:g.136434043G>T	gnomAD
INPP5E	Q9NRR6	p.Ser343Phe	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136434043G>A	NCI-TCGA
INPP5E	Q9NRR6	p.Arg345Ser	rs1298311798	missense variant	-	NC_000009.12:g.136433279C>G	gnomAD
INPP5E	Q9NRR6	p.Arg345Ser	VAR_077249	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
INPP5E	Q9NRR6	p.Arg346Trp	rs767855660	missense variant	-	NC_000009.12:g.136433278G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg346Gln	rs762071368	missense variant	-	NC_000009.12:g.136433277C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.TrpGlu348Ter	rs1463230156	stop gained	-	NC_000009.12:g.136433270_136433271del	gnomAD
INPP5E	Q9NRR6	p.Trp348Arg	rs1318575224	missense variant	-	NC_000009.12:g.136433272A>G	gnomAD
INPP5E	Q9NRR6	p.Thr350Ile	rs1164521289	missense variant	-	NC_000009.12:g.136433265G>A	gnomAD
INPP5E	Q9NRR6	p.Arg351Cys	rs764667114	missense variant	-	NC_000009.12:g.136433263G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg351Leu	rs775094328	missense variant	-	NC_000009.12:g.136433262C>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg351Pro	rs775094328	missense variant	-	NC_000009.12:g.136433262C>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg351His	rs775094328	missense variant	-	NC_000009.12:g.136433262C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu352Pro	rs1449354262	missense variant	-	NC_000009.12:g.136433259A>G	gnomAD
INPP5E	Q9NRR6	p.Thr355Met	rs863225198	missense variant	-	NC_000009.12:g.136433250G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Thr355Met	RCV000201710	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136433250G>A	ClinVar
INPP5E	Q9NRR6	p.Gly357Val	rs1488606970	missense variant	-	NC_000009.12:g.136433244C>A	gnomAD
INPP5E	Q9NRR6	p.Pro358Ala	rs1218911255	missense variant	-	NC_000009.12:g.136433242G>C	gnomAD
INPP5E	Q9NRR6	p.His359Gln	rs1275048619	missense variant	-	NC_000009.12:g.136433237G>C	gnomAD
INPP5E	Q9NRR6	p.Ser364Phe	rs536052523	missense variant	-	NC_000009.12:g.136433223G>A	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser364Cys	rs536052523	missense variant	-	NC_000009.12:g.136433223G>C	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser365Leu	rs1388522044	missense variant	-	NC_000009.12:g.136433220G>A	gnomAD
INPP5E	Q9NRR6	p.Ala366Val	rs930546779	missense variant	-	NC_000009.12:g.136433217G>A	gnomAD
INPP5E	Q9NRR6	p.Gly369Val	rs1388790286	missense variant	-	NC_000009.12:g.136433208C>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly369Ser	rs750574856	missense variant	-	NC_000009.12:g.136433209C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly369Asp	rs1388790286	missense variant	-	NC_000009.12:g.136433208C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val370Met	rs147531141	missense variant	-	NC_000009.12:g.136433206C>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val370Glu	rs751934943	missense variant	-	NC_000009.12:g.136433205A>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Tyr372His	rs1189137999	missense variant	-	NC_000009.12:g.136433200A>G	gnomAD
INPP5E	Q9NRR6	p.Ser374Leu	rs764577370	missense variant	-	NC_000009.12:g.136433193G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu375Pro	rs1204104676	missense variant	-	NC_000009.12:g.136433190A>G	gnomAD
INPP5E	Q9NRR6	p.Phe376Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136433186G>C	NCI-TCGA
INPP5E	Q9NRR6	p.Ile377Val	rs973796605	missense variant	-	NC_000009.12:g.136433185T>C	TOPMed
INPP5E	Q9NRR6	p.Ile377Ser	rs763499800	missense variant	-	NC_000009.12:g.136433184A>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg378His	rs758951947	missense variant	-	NC_000009.12:g.136433181C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg378Cys	rs121918130	missense variant	-	NC_000009.12:g.136433182G>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg378Cys	rs121918130	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136433182G>A	UniProt,dbSNP
INPP5E	Q9NRR6	p.Arg378Cys	VAR_063012	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136433182G>A	UniProt
INPP5E	Q9NRR6	p.Arg378Leu	rs758951947	missense variant	-	NC_000009.12:g.136433181C>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg378Ser	rs121918130	missense variant	-	NC_000009.12:g.136433182G>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg378Cys	RCV000735369	missense variant	Talipes equinovarus (CCF)	NC_000009.12:g.136433182G>A	ClinVar
INPP5E	Q9NRR6	p.Arg378Cys	RCV000022405	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136433182G>A	ClinVar
INPP5E	Q9NRR6	p.Arg379Lys	rs200518324	missense variant	-	NC_000009.12:g.136433178C>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg379Ser	rs1443547805	missense variant	-	NC_000009.12:g.136433177C>A	TOPMed
INPP5E	Q9NRR6	p.Arg379Lys	RCV000303395	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136433178C>T	ClinVar
INPP5E	Q9NRR6	p.Asp380Asn	rs770456201	missense variant	-	NC_000009.12:g.136433176C>T	ExAC
INPP5E	Q9NRR6	p.Ile382Met	rs760349095	missense variant	-	NC_000009.12:g.136433168G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Cys385Tyr	rs863225200	missense variant	-	NC_000009.12:g.136433160C>T	gnomAD
INPP5E	Q9NRR6	p.Cys385Trp	rs772941011	missense variant	-	NC_000009.12:g.136433159G>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Cys385Tyr	RCV000201546	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136433160C>T	ClinVar
INPP5E	Q9NRR6	p.Cys385Ser	rs863225200	missense variant	-	NC_000009.12:g.136433160C>G	gnomAD
INPP5E	Q9NRR6	p.Ser386Ala	rs771866083	missense variant	-	NC_000009.12:g.136433158A>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser386Ter	rs748011090	stop gained	-	NC_000009.12:g.136433157G>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Val388Leu	rs863225201	missense variant	-	NC_000009.12:g.136433073C>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val388Leu	RCV000201647	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136433073C>A	ClinVar
INPP5E	Q9NRR6	p.Glu389Asp	COSM3413463	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136433068C>G	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Ser391Phe	rs201481645	missense variant	-	NC_000009.12:g.136433063G>A	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser391Cys	COSM6183172	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136433063G>C	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Thr392Arg	rs771142015	missense variant	-	NC_000009.12:g.136433060G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Thr392Met	rs771142015	missense variant	-	NC_000009.12:g.136433060G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val393Ala	rs930286679	missense variant	-	NC_000009.12:g.136433057A>G	gnomAD
INPP5E	Q9NRR6	p.Val393Leu	rs778132708	missense variant	-	NC_000009.12:g.136433058C>A	ExAC
INPP5E	Q9NRR6	p.Arg396Cys	rs528585797	missense variant	-	NC_000009.12:g.136433049G>A	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg396His	rs779363781	missense variant	-	NC_000009.12:g.136433048C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg396His	rs779363781	missense variant	-	NC_000009.12:g.136433048C>T	NCI-TCGA,NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Ile397Phe	rs140705002	missense variant	-	NC_000009.12:g.136433046T>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ile397Val	rs140705002	missense variant	-	NC_000009.12:g.136433046T>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val398Leu	rs200033750	missense variant	-	NC_000009.12:g.136433043C>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val398Met	rs200033750	missense variant	-	NC_000009.12:g.136433043C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser399Ala	rs1327278801	missense variant	-	NC_000009.12:g.136433040A>C	gnomAD
INPP5E	Q9NRR6	p.Ser399Cys	RCV000722645	missense variant	-	NC_000009.12:g.136433039G>C	ClinVar
INPP5E	Q9NRR6	p.Gln400Glu	rs147285345	missense variant	-	NC_000009.12:g.136433037G>C	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gln400Ter	rs147285345	stop gained	-	NC_000009.12:g.136433037G>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gln400His	COSM753176	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136433035C>G	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Ile401Val	rs1314634788	missense variant	-	NC_000009.12:g.136433034T>C	gnomAD
INPP5E	Q9NRR6	p.Ile401GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136433025_136433035TGGTCTTGATC>-	NCI-TCGA
INPP5E	Q9NRR6	p.Lys404Arg	rs1183135467	missense variant	-	NC_000009.12:g.136433024T>C	TOPMed
INPP5E	Q9NRR6	p.Gly405Val	rs761559591	missense variant	-	NC_000009.12:g.136433021C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly405Arg	rs767126396	missense variant	-	NC_000009.12:g.136433022C>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly405Arg	rs767126396	missense variant	-	NC_000009.12:g.136433022C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Leu407Ser	rs762734978	missense variant	-	NC_000009.12:g.136433015A>G	ExAC
INPP5E	Q9NRR6	p.Gly408Asp	rs1392354724	missense variant	-	NC_000009.12:g.136433012C>T	gnomAD
INPP5E	Q9NRR6	p.Ser417Pro	rs863225202	missense variant	-	NC_000009.12:g.136432986A>G	-
INPP5E	Q9NRR6	p.Ser417Pro	RCV000201740	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432986A>G	ClinVar
INPP5E	Q9NRR6	p.Leu419His	rs1248746719	missense variant	-	NC_000009.12:g.136432979A>T	gnomAD
INPP5E	Q9NRR6	p.Ile421Val	rs1269816718	missense variant	-	NC_000009.12:g.136432974T>C	gnomAD
INPP5E	Q9NRR6	p.Thr422Met	rs769067899	missense variant	-	NC_000009.12:g.136432970G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Thr422Ala	rs1356146470	missense variant	-	NC_000009.12:g.136432971T>C	gnomAD
INPP5E	Q9NRR6	p.Thr422Lys	rs769067899	missense variant	-	NC_000009.12:g.136432970G>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser423Phe	rs1410655635	missense variant	-	NC_000009.12:g.136432967G>A	TOPMed
INPP5E	Q9NRR6	p.Phe425Leu	rs780525765	missense variant	-	NC_000009.12:g.136432960G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Thr426Asn	VAR_077250	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
INPP5E	Q9NRR6	p.Gly428Asp	rs1427552852	missense variant	-	NC_000009.12:g.136432583C>T	gnomAD
INPP5E	Q9NRR6	p.Gly428Ser	rs920086415	missense variant	-	NC_000009.12:g.136432584C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asp429Asn	rs1473151563	missense variant	-	NC_000009.12:g.136432581C>T	gnomAD
INPP5E	Q9NRR6	p.Gly430Arg	rs1203074338	missense variant	-	NC_000009.12:g.136432578C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Lys431Arg	rs1278728778	missense variant	-	NC_000009.12:g.136432574T>C	gnomAD
INPP5E	Q9NRR6	p.Val432Met	rs1199320637	missense variant	-	NC_000009.12:g.136432572C>T	gnomAD
INPP5E	Q9NRR6	p.Ala433Val	rs1022640639	missense variant	-	NC_000009.12:g.136432568G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg435Trp	rs756789619	missense variant	-	NC_000009.12:g.136432563G>A	ExAC,TOPMed
INPP5E	Q9NRR6	p.Arg435Gln	rs121918129	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136432562C>T	UniProt,dbSNP
INPP5E	Q9NRR6	p.Arg435Gln	VAR_063013	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136432562C>T	UniProt
INPP5E	Q9NRR6	p.Arg435Gln	rs121918129	missense variant	-	NC_000009.12:g.136432562C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg435Trp	RCV000416989	missense variant	Joubert Syndrome and Related Disorders	NC_000009.12:g.136432563G>A	ClinVar
INPP5E	Q9NRR6	p.Arg435Gln	RCV000201569	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432562C>T	ClinVar
INPP5E	Q9NRR6	p.Arg435Gln	RCV000022404	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136432562C>T	ClinVar
INPP5E	Q9NRR6	p.Leu437Val	rs777463231	missense variant	-	NC_000009.12:g.136432557G>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Leu437Pro	rs758022536	missense variant	-	NC_000009.12:g.136432556A>G	ExAC
INPP5E	Q9NRR6	p.Asp438Gly	rs1167225330	missense variant	-	NC_000009.12:g.136432553T>C	TOPMed
INPP5E	Q9NRR6	p.Tyr439Cys	rs1359606472	missense variant	-	NC_000009.12:g.136432550T>C	gnomAD
INPP5E	Q9NRR6	p.Thr440Ala	rs752497011	missense variant	-	NC_000009.12:g.136432548T>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Thr442Ile	RCV000383155	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432541G>A	ClinVar
INPP5E	Q9NRR6	p.Thr442Ile	rs201043370	missense variant	-	NC_000009.12:g.136432541G>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val443Ile	rs371811859	missense variant	-	NC_000009.12:g.136432539C>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gln444Arg	rs545195109	missense variant	-	NC_000009.12:g.136432535T>C	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gln444Pro	rs545195109	missense variant	-	NC_000009.12:g.136432535T>G	1000Genomes,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala445Val	rs1175787391	missense variant	-	NC_000009.12:g.136432532G>A	gnomAD
INPP5E	Q9NRR6	p.Leu446Pro	rs1238625120	missense variant	-	NC_000009.12:g.136432529A>G	gnomAD
INPP5E	Q9NRR6	p.Pro449Thr	rs1289505793	missense variant	-	NC_000009.12:g.136432521G>T	gnomAD
INPP5E	Q9NRR6	p.Pro449His	COSM3699548	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136432520G>T	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Asn451Ser	rs368627245	missense variant	-	NC_000009.12:g.136432514T>C	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val452Met	rs1554793007	missense variant	-	NC_000009.12:g.136432512C>T	-
INPP5E	Q9NRR6	p.Val452Met	RCV000636939	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432512C>T	ClinVar
INPP5E	Q9NRR6	p.Asp454Gly	rs1057517749	missense variant	-	NC_000009.12:g.136432505T>C	-
INPP5E	Q9NRR6	p.Asp454Asn	rs138150684	missense variant	-	NC_000009.12:g.136432506C>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asp454Gly	RCV000412911	missense variant	-	NC_000009.12:g.136432505T>C	ClinVar
INPP5E	Q9NRR6	p.Thr455Asn	rs763184550	missense variant	-	NC_000009.12:g.136432502G>T	ExAC
INPP5E	Q9NRR6	p.Pro457Thr	rs775772293	missense variant	-	NC_000009.12:g.136432497G>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg459Cys	rs1042895970	missense variant	-	NC_000009.12:g.136432491G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg459His	rs770146958	missense variant	-	NC_000009.12:g.136432490C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala462Thr	rs200837258	missense variant	-	NC_000009.12:g.136432482C>T	1000Genomes,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala462Thr	RCV000388805	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432482C>T	ClinVar
INPP5E	Q9NRR6	p.Ala462Thr	rs200837258	missense variant	-	NC_000009.12:g.136432482C>T	NCI-TCGA
INPP5E	Q9NRR6	p.Ala463Ser	rs868661165	missense variant	-	NC_000009.12:g.136432479C>A	gnomAD
INPP5E	Q9NRR6	p.Ala463Val	rs199956627	missense variant	-	NC_000009.12:g.136431985G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala463Thr	rs868661165	missense variant	-	NC_000009.12:g.136432479C>T	gnomAD
INPP5E	Q9NRR6	p.Asp464Gly	rs1252233625	missense variant	-	NC_000009.12:g.136431982T>C	gnomAD
INPP5E	Q9NRR6	p.Val465Ile	rs750331066	missense variant	-	NC_000009.12:g.136431980C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg468Cys	rs375909217	missense variant	-	NC_000009.12:g.136431971G>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg468His	rs112089228	missense variant	-	NC_000009.12:g.136431970C>T	NCI-TCGA,NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Arg468His	rs112089228	missense variant	-	NC_000009.12:g.136431970C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asp470Asn	COSM4692606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136431965C>T	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Glu471Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.136431962C>A	NCI-TCGA
INPP5E	Q9NRR6	p.Trp474Arg	VAR_077251	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
INPP5E	Q9NRR6	p.Phe475Ser	rs777010049	missense variant	-	NC_000009.12:g.136431949A>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Phe475Leu	rs759781033	missense variant	-	NC_000009.12:g.136431950A>G	ExAC
INPP5E	Q9NRR6	p.Phe478Cys	rs766669439	missense variant	-	NC_000009.12:g.136431940A>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Asn479Thr	rs1300257345	missense variant	-	NC_000009.12:g.136431937T>G	gnomAD
INPP5E	Q9NRR6	p.Phe480Leu	rs1391336957	missense variant	-	NC_000009.12:g.136431935A>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg481Cys	rs761179746	missense variant	-	NC_000009.12:g.136431932G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg481His	rs773590570	missense variant	-	NC_000009.12:g.136431931C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly484Asp	rs761386815	missense variant	-	NC_000009.12:g.136431922C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gly485Arg	rs768384414	missense variant	-	NC_000009.12:g.136431920C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg486His	rs367592401	missense variant	-	NC_000009.12:g.136431916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg486Gly	rs75939033	missense variant	-	NC_000009.12:g.136431917G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg486Cys	rs75939033	missense variant	-	NC_000009.12:g.136431917G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg486Cys	RCV000420326	missense variant	-	NC_000009.12:g.136431917G>A	ClinVar
INPP5E	Q9NRR6	p.Val489Met	rs781083748	missense variant	-	NC_000009.12:g.136431908C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val489Met	rs781083748	missense variant	-	NC_000009.12:g.136431908C>T	NCI-TCGA
INPP5E	Q9NRR6	p.Asp490Glu	rs375301475	missense variant	-	NC_000009.12:g.136431903G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asp490Tyr	rs757222534	missense variant	-	NC_000009.12:g.136431905C>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp490Asn	rs757222534	missense variant	-	NC_000009.12:g.136431905C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp490Tyr	RCV000201688	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136431905C>A	ClinVar
INPP5E	Q9NRR6	p.Ala491Thr	rs371375165	missense variant	-	NC_000009.12:g.136431902C>T	1000Genomes,ESP,ExAC,gnomAD
INPP5E	Q9NRR6	p.Leu493Pro	rs374083402	missense variant	-	NC_000009.12:g.136431895A>G	ESP,ExAC,gnomAD
INPP5E	Q9NRR6	p.Cys494Tyr	rs766692376	missense variant	-	NC_000009.12:g.136431892C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Cys494Phe	rs766692376	missense variant	-	NC_000009.12:g.136431892C>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly496Val	rs538188644	missense variant	-	NC_000009.12:g.136431886C>A	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Val501Leu	rs370876407	missense variant	-	NC_000009.12:g.136431872C>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val501Glu	rs1165439901	missense variant	-	NC_000009.12:g.136431871A>T	gnomAD
INPP5E	Q9NRR6	p.Val501Met	rs370876407	missense variant	-	NC_000009.12:g.136431872C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val501Leu	rs370876407	missense variant	-	NC_000009.12:g.136431872C>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro502Leu	rs769531967	missense variant	-	NC_000009.12:g.136431868G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro502Arg	rs769531967	missense variant	-	NC_000009.12:g.136431868G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala503Val	rs370661476	missense variant	-	NC_000009.12:g.136431865G>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala503Val	rs370661476	missense variant	-	NC_000009.12:g.136431865G>A	NCI-TCGA,NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.His507Gln	rs10870188	missense variant	-	NC_000009.12:g.136431852G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asp508Asn	rs1246194868	missense variant	-	NC_000009.12:g.136431851C>T	gnomAD
INPP5E	Q9NRR6	p.Gln509Arg	rs1373092301	missense variant	-	NC_000009.12:g.136431847T>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ile511Asn	rs943352173	missense variant	-	NC_000009.12:g.136431841A>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ile511Leu	rs1039047946	missense variant	-	NC_000009.12:g.136431842T>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg512Gln	rs750777734	missense variant	-	NC_000009.12:g.136431838C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg512Gly	rs374152018	missense variant	-	NC_000009.12:g.136431839G>C	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg512Leu	rs750777734	missense variant	-	NC_000009.12:g.136431838C>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg512Trp	rs374152018	missense variant	-	NC_000009.12:g.136431839G>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Glu513Ala	rs1380133380	missense variant	-	NC_000009.12:g.136431835T>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Glu513Gly	rs1380133380	missense variant	-	NC_000009.12:g.136431835T>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Glu513ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.136431836C>-	NCI-TCGA
INPP5E	Q9NRR6	p.Met514Val	rs768016672	missense variant	-	NC_000009.12:g.136431833T>C	ExAC
INPP5E	Q9NRR6	p.Met514Ile	rs1392649760	missense variant	-	NC_000009.12:g.136431831C>A	gnomAD
INPP5E	Q9NRR6	p.Arg515Trp	rs13297509	missense variant	-	NC_000009.12:g.136431830G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg515Gln	rs752106876	missense variant	-	NC_000009.12:g.136431829C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg515Trp	RCV000022402	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136431830G>A	ClinVar
INPP5E	Q9NRR6	p.Lys516Thr	rs13294000	missense variant	-	NC_000009.12:g.136431826T>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Lys516Arg	rs13294000	missense variant	-	NC_000009.12:g.136431826T>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly517Arg	rs1336267333	missense variant	-	NC_000009.12:g.136431824C>T	TOPMed
INPP5E	Q9NRR6	p.Gly517Glu	rs1335027523	missense variant	-	NC_000009.12:g.136431117C>T	gnomAD
INPP5E	Q9NRR6	p.Ser518Ala	rs760443315	missense variant	-	NC_000009.12:g.136431115A>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser518Tyr	rs1404412394	missense variant	-	NC_000009.12:g.136431114G>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Lys521Glu	rs773033007	missense variant	-	NC_000009.12:g.136431106T>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly522Ala	rs771866500	missense variant	-	NC_000009.12:g.136431102C>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly522Ala	RCV000636942	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136431102C>G	ClinVar
INPP5E	Q9NRR6	p.Phe523Tyr	rs1184705015	missense variant	-	NC_000009.12:g.136431099A>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Glu525Asp	rs748139386	missense variant	-	NC_000009.12:g.136431092C>A	ExAC
INPP5E	Q9NRR6	p.Pro526Leu	rs746867724	missense variant	-	NC_000009.12:g.136431090G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Pro526Leu	RCV000201636	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136431090G>A	ClinVar
INPP5E	Q9NRR6	p.Ile528Met	rs950409881	missense variant	-	NC_000009.12:g.136431083G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu531Phe	rs781540345	missense variant	-	NC_000009.12:g.136431076G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser533Leu	rs757592615	missense variant	-	NC_000009.12:g.136431069G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser533Leu	rs757592615	missense variant	-	NC_000009.12:g.136431069G>A	NCI-TCGA,NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Tyr534His	rs747333701	missense variant	-	NC_000009.12:g.136431067A>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Tyr534Asp	VAR_077252	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
INPP5E	Q9NRR6	p.Lys535Arg	rs1382261351	missense variant	-	NC_000009.12:g.136431063T>C	gnomAD
INPP5E	Q9NRR6	p.Ile538Val	rs1187704522	missense variant	-	NC_000009.12:g.136431055T>C	TOPMed
INPP5E	Q9NRR6	p.Gly539Arg	rs375126841	missense variant	-	NC_000009.12:g.136431052C>T	ESP,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Lys540Arg	rs1159924823	missense variant	-	NC_000009.12:g.136431048T>C	TOPMed
INPP5E	Q9NRR6	p.Thr542Met	rs370618502	missense variant	-	NC_000009.12:g.136431042G>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Thr542Ser	rs1450087861	missense variant	-	NC_000009.12:g.136431043T>A	gnomAD
INPP5E	Q9NRR6	p.Tyr543Ter	rs753398503	stop gained	-	NC_000009.12:g.136431038G>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Tyr543Ter	rs753398503	stop gained	-	NC_000009.12:g.136431038G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Tyr543Cys	rs1452197900	missense variant	-	NC_000009.12:g.136431039T>C	gnomAD
INPP5E	Q9NRR6	p.Asp544Asn	rs1161636527	missense variant	-	NC_000009.12:g.136431037C>T	gnomAD
INPP5E	Q9NRR6	p.Asp544Asn	rs1161636527	missense variant	-	NC_000009.12:g.136431037C>T	NCI-TCGA
INPP5E	Q9NRR6	p.Thr546Ala	rs765986823	missense variant	-	NC_000009.12:g.136431031T>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gln549Glu	rs1165161907	missense variant	-	NC_000009.12:g.136431022G>C	gnomAD
INPP5E	Q9NRR6	p.Gln549Arg	rs750136842	missense variant	-	NC_000009.12:g.136431021T>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg550Thr	rs1310853922	missense variant	-	NC_000009.12:g.136431018C>G	TOPMed
INPP5E	Q9NRR6	p.Thr551Met	rs75342839	missense variant	-	NC_000009.12:g.136431015G>A	1000Genomes,ExAC,TOPMed
INPP5E	Q9NRR6	p.Thr551Met	RCV000414446	missense variant	-	NC_000009.12:g.136431015G>A	ClinVar
INPP5E	Q9NRR6	p.Thr551Met	rs75342839	missense variant	-	NC_000009.12:g.136431015G>A	NCI-TCGA,NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Pro552Ala	rs1243230127	missense variant	-	NC_000009.12:g.136431013G>C	gnomAD
INPP5E	Q9NRR6	p.Thr555Met	rs761578787	missense variant	-	NC_000009.12:g.136431003G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg557His	rs992814593	missense variant	-	NC_000009.12:g.136430409C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg557Cys	rs1024279229	missense variant	-	NC_000009.12:g.136430410G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg557Cys	RCV000489080	missense variant	-	NC_000009.12:g.136430410G>A	ClinVar
INPP5E	Q9NRR6	p.Val558Phe	rs1417022247	missense variant	-	NC_000009.12:g.136430407C>A	gnomAD
INPP5E	Q9NRR6	p.Val558Ile	rs1417022247	missense variant	-	NC_000009.12:g.136430407C>T	gnomAD
INPP5E	Q9NRR6	p.Val558Ile	rs1417022247	missense variant	-	NC_000009.12:g.136430407C>T	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Leu559Met	rs376839080	missense variant	-	NC_000009.12:g.136430404A>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser562Gly	rs863225197	missense variant	-	NC_000009.12:g.136430395T>C	-
INPP5E	Q9NRR6	p.Ser562Gly	RCV000201622	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136430395T>C	ClinVar
INPP5E	Q9NRR6	p.Arg563His	rs121918128	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430391C>T	UniProt,dbSNP
INPP5E	Q9NRR6	p.Arg563His	VAR_063016	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430391C>T	UniProt
INPP5E	Q9NRR6	p.Arg563His	rs121918128	missense variant	-	NC_000009.12:g.136430391C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg563Cys	rs371960390	missense variant	-	NC_000009.12:g.136430392G>A	ESP,ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg563His	RCV000022403	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430391C>T	ClinVar
INPP5E	Q9NRR6	p.His564Tyr	rs1205389223	missense variant	-	NC_000009.12:g.136430389G>A	gnomAD
INPP5E	Q9NRR6	p.His564Gln	rs1306975739	missense variant	-	NC_000009.12:g.136430387G>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Lys565Arg	rs1212544429	missense variant	-	NC_000009.12:g.136430385T>C	TOPMed
INPP5E	Q9NRR6	p.Gly566Asp	rs140543689	missense variant	-	NC_000009.12:g.136430382C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asp567Val	rs779177166	missense variant	-	NC_000009.12:g.136430379T>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser572Arg	rs888610698	missense variant	-	NC_000009.12:g.136430363G>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ser572Asn	rs769104210	missense variant	-	NC_000009.12:g.136430364C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ser574Phe	rs1025785482	missense variant	-	NC_000009.12:g.136430358G>A	TOPMed
INPP5E	Q9NRR6	p.Ser575Phe	rs1461088557	missense variant	-	NC_000009.12:g.136430355G>A	gnomAD
INPP5E	Q9NRR6	p.Ser575Pro	rs749810093	missense variant	-	NC_000009.12:g.136430356A>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro577Ser	rs1352231723	missense variant	-	NC_000009.12:g.136430350G>A	gnomAD
INPP5E	Q9NRR6	p.Pro577Arg	rs147967974	missense variant	-	NC_000009.12:g.136430349G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Pro577Arg	RCV000489191	missense variant	-	NC_000009.12:g.136430349G>C	ClinVar
INPP5E	Q9NRR6	p.Gly578Arg	rs559636009	missense variant	-	NC_000009.12:g.136430347C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly578Glu	rs1173901104	missense variant	-	NC_000009.12:g.136430346C>T	gnomAD
INPP5E	Q9NRR6	p.Gly578Arg	RCV000194100	missense variant	-	NC_000009.12:g.136430347C>T	ClinVar
INPP5E	Q9NRR6	p.Lys580Glu	VAR_063017	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
INPP5E	Q9NRR6	p.Thr581Met	rs943471686	missense variant	-	NC_000009.12:g.136430337G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Thr581Ser	rs1473447000	missense variant	-	NC_000009.12:g.136430338T>A	gnomAD
INPP5E	Q9NRR6	p.Asp583Gly	rs751316714	missense variant	-	NC_000009.12:g.136430331T>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp583Asn	rs756888841	missense variant	-	NC_000009.12:g.136430332C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.His584Arg	rs1270790458	missense variant	-	NC_000009.12:g.136430328T>C	TOPMed
INPP5E	Q9NRR6	p.Arg585His	rs752300607	missense variant	-	NC_000009.12:g.136430325C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg585Cys	rs763992407	missense variant	-	NC_000009.12:g.136430326G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg585Cys	rs763992407	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430326G>A	UniProt,dbSNP
INPP5E	Q9NRR6	p.Arg585Cys	VAR_077253	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430326G>A	UniProt
INPP5E	Q9NRR6	p.Arg585His	RCV000201629	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136430325C>T	ClinVar
INPP5E	Q9NRR6	p.Val587Ter	RCV000201536	frameshift	Joubert syndrome (JBTS)	NC_000009.12:g.136430319del	ClinVar
INPP5E	Q9NRR6	p.Tyr588His	rs1308391041	missense variant	-	NC_000009.12:g.136430317A>G	gnomAD
INPP5E	Q9NRR6	p.Tyr588Ter	rs1364697270	stop gained	-	NC_000009.12:g.136430315A>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Tyr588Cys	RCV000785904	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430316T>C	ClinVar
INPP5E	Q9NRR6	p.Arg592Trp	rs925789744	missense variant	-	NC_000009.12:g.136430305G>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg592Leu	rs1338062785	missense variant	-	NC_000009.12:g.136430304C>A	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg592Gly	rs925789744	missense variant	-	NC_000009.12:g.136430305G>C	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg592Gln	rs1338062785	missense variant	-	NC_000009.12:g.136430304C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Val593Leu	rs1415857521	missense variant	-	NC_000009.12:g.136430302C>G	TOPMed
INPP5E	Q9NRR6	p.Arg596Thr	rs765327224	missense variant	-	NC_000009.12:g.136430292C>G	ExAC
INPP5E	Q9NRR6	p.Arg596Ser	rs530758804	missense variant	-	NC_000009.12:g.136430291C>A	gnomAD
INPP5E	Q9NRR6	p.Pro597Leu	rs760790290	missense variant	-	NC_000009.12:g.136430289G>A	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg599Gln	rs750836133	missense variant	-	NC_000009.12:g.136430283C>T	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg599Leu	rs750836133	missense variant	-	NC_000009.12:g.136430283C>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg599Pro	rs750836133	missense variant	-	NC_000009.12:g.136430283C>G	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg599Ter	rs1191043398	stop gained	-	NC_000009.12:g.136430284G>A	gnomAD
INPP5E	Q9NRR6	p.Asn601Ser	rs749720435	missense variant	-	NC_000009.12:g.136430277T>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Asn601His	rs1417182226	missense variant	-	NC_000009.12:g.136430278T>G	gnomAD
INPP5E	Q9NRR6	p.Ile602Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136429805A>G	NCI-TCGA
INPP5E	Q9NRR6	p.Pro603Leu	rs746372090	missense variant	-	NC_000009.12:g.136429802G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ala606Pro	rs776136400	missense variant	-	NC_000009.12:g.136429794C>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ala606Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136429793G>T	NCI-TCGA
INPP5E	Q9NRR6	p.Gly607Asp	rs375144690	missense variant	-	NC_000009.12:g.136429790C>T	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly607Ser	rs1423878411	missense variant	-	NC_000009.12:g.136429791C>T	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gly607Arg	rs1423878411	missense variant	-	NC_000009.12:g.136429791C>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Lys608Glu	rs1251363265	missense variant	-	NC_000009.12:g.136429788T>C	TOPMed
INPP5E	Q9NRR6	p.Phe609Ser	rs777549235	missense variant	-	NC_000009.12:g.136429784A>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp610Glu	rs199875003	missense variant	-	NC_000009.12:g.136429780A>T	1000Genomes,ExAC,gnomAD
INPP5E	Q9NRR6	p.Asp610Asn	rs771894087	missense variant	-	NC_000009.12:g.136429782C>T	ExAC,gnomAD
INPP5E	Q9NRR6	p.Arg611Thr	rs1338117436	missense variant	-	NC_000009.12:g.136429778C>G	TOPMed
INPP5E	Q9NRR6	p.Glu612Ter	COSM1106786	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136429776C>A	NCI-TCGA Cosmic
INPP5E	Q9NRR6	p.Leu613Pro	rs1056991920	missense variant	-	NC_000009.12:g.136429772A>G	TOPMed,gnomAD
INPP5E	Q9NRR6	p.Leu615Ter	RCV000689290	nonsense	Joubert syndrome (JBTS)	NC_000009.12:g.136429766A>C	ClinVar
INPP5E	Q9NRR6	p.Leu616Ile	RCV000697824	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136429764G>T	ClinVar
INPP5E	Q9NRR6	p.Gly617Arg	rs1477067987	missense variant	-	NC_000009.12:g.136429761C>G	gnomAD
INPP5E	Q9NRR6	p.Ile618Ser	rs1271443015	missense variant	-	NC_000009.12:g.136429757A>C	gnomAD
INPP5E	Q9NRR6	p.Arg620Ter	RCV000504513	frameshift	-	NC_000009.12:g.136429754_136429755del	ClinVar
INPP5E	Q9NRR6	p.Arg621Trp	rs142759730	missense variant	-	NC_000009.12:g.136429749G>A	ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Arg621Trp	RCV000490169	missense variant	-	NC_000009.12:g.136429749G>A	ClinVar
INPP5E	Q9NRR6	p.Arg621Gln	VAR_076892	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
INPP5E	Q9NRR6	p.Ser623Leu	rs754887212	missense variant	-	NC_000009.12:g.136429742G>A	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Glu625Asp	rs148539728	missense variant	-	NC_000009.12:g.136429735C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Ile626Thr	rs757272800	missense variant	-	NC_000009.12:g.136429733A>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Gln627Ter	rs121918127	stop gained	-	NC_000009.12:g.136429731G>A	gnomAD
INPP5E	Q9NRR6	p.Gln627Glu	rs121918127	missense variant	-	NC_000009.12:g.136429731G>C	gnomAD
INPP5E	Q9NRR6	p.Gln627Ter	RCV000000427	nonsense	MORM syndrome (MORMS)	NC_000009.12:g.136429731G>A	ClinVar
INPP5E	Q9NRR6	p.Gln633Glu	rs763184652	missense variant	-	NC_000009.12:g.136429713G>C	ExAC,TOPMed,gnomAD
INPP5E	Q9NRR6	p.Gln633Ter	RCV000201717	frameshift	Joubert syndrome (JBTS)	NC_000009.12:g.136429713_136429714del	ClinVar
INPP5E	Q9NRR6	p.Ser634Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.136429709C>G	NCI-TCGA
INPP5E	Q9NRR6	p.Gln635Pro	rs1393260348	missense variant	-	NC_000009.12:g.136429706T>G	gnomAD
INPP5E	Q9NRR6	p.Gln635Lys	rs1330792502	missense variant	-	NC_000009.12:g.136429707G>T	gnomAD
INPP5E	Q9NRR6	p.Ile640Thr	rs753001340	missense variant	-	NC_000009.12:g.136429691A>G	ExAC,gnomAD
INPP5E	Q9NRR6	p.Ile640Val	rs1397261225	missense variant	-	NC_000009.12:g.136429692T>C	gnomAD
INPP5E	Q9NRR6	p.Ile640Thr	RCV000196839	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136429691A>G	ClinVar
INPP5E	Q9NRR6	p.Cys641Gly	rs765521242	missense variant	-	NC_000009.12:g.136429689A>C	ExAC,gnomAD
INPP5E	Q9NRR6	p.Cys641Ter	RCV000705026	frameshift	Joubert syndrome (JBTS)	NC_000009.12:g.136429688del	ClinVar
INPP5E	Q9NRR6	p.Cys641Arg	VAR_077254	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
INPP5E	Q9NRR6	p.Val643Ile	rs1480311306	missense variant	-	NC_000009.12:g.136429683C>T	gnomAD
INPP5E	Q9NRR6	p.Ter645Gly	rs776988648	stop lost	-	NC_000009.12:g.136429677A>C	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Asn2Tyr	rs1466076982	missense variant	-	NC_000001.11:g.9872061T>A	gnomAD
CTNNBIP1	Q9NSA3	p.Asn2Lys	rs771836718	missense variant	-	NC_000001.11:g.9872059G>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3Leu	rs150360638	missense variant	-	NC_000001.11:g.9872057C>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3His	rs150360638	missense variant	-	NC_000001.11:g.9872057C>T	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3Cys	rs147067665	missense variant	-	NC_000001.11:g.9872058G>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Glu4Asp	rs1183573009	missense variant	-	NC_000001.11:g.9872053C>G	TOPMed
CTNNBIP1	Q9NSA3	p.Glu4Lys	rs1230381774	missense variant	-	NC_000001.11:g.9872055C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly5Val	rs1330002148	missense variant	-	NC_000001.11:g.9872051C>A	gnomAD
CTNNBIP1	Q9NSA3	p.Ala6Val	rs1299911882	missense variant	-	NC_000001.11:g.9872048G>A	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ala6Pro	rs761797446	missense variant	-	NC_000001.11:g.9872049C>G	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly8Arg	rs113935062	missense variant	-	NC_000001.11:g.9872043C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly8Glu	rs781302251	missense variant	-	NC_000001.11:g.9872042C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Gly8Arg	rs113935062	missense variant	-	NC_000001.11:g.9872043C>T	NCI-TCGA,NCI-TCGA Cosmic
CTNNBIP1	Q9NSA3	p.Lys9Asn	rs751743905	missense variant	-	NC_000001.11:g.9872038C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Pro11Leu	rs777994158	missense variant	-	NC_000001.11:g.9872033G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Glu12Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.9872030T>C	NCI-TCGA
CTNNBIP1	Q9NSA3	p.Glu13Asp	rs1189131001	missense variant	-	NC_000001.11:g.9872026C>G	gnomAD
CTNNBIP1	Q9NSA3	p.Met14Thr	rs753671543	missense variant	-	NC_000001.11:g.9872024A>G	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Ile16Val	rs1187640116	missense variant	-	NC_000001.11:g.9872019T>C	gnomAD
CTNNBIP1	Q9NSA3	p.Gln17Glu	rs1442815862	missense variant	-	NC_000001.11:g.9872016G>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln17Ter	rs1442815862	stop gained	-	NC_000001.11:g.9872016G>A	NCI-TCGA Cosmic
CTNNBIP1	Q9NSA3	p.Gln17Ter	rs1442815862	stop gained	-	NC_000001.11:g.9872016G>A	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln17His	rs1257745822	missense variant	-	NC_000001.11:g.9872014C>A	gnomAD
CTNNBIP1	Q9NSA3	p.Gln18Pro	rs1343663953	missense variant	-	NC_000001.11:g.9872012T>G	gnomAD
CTNNBIP1	Q9NSA3	p.Gln18Ter	rs367851454	stop gained	-	NC_000001.11:g.9872013G>A	ESP,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Lys19Arg	rs760722655	missense variant	-	NC_000001.11:g.9872009T>C	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Gln	rs761438511	missense variant	-	NC_000001.11:g.9872003C>T	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Leu	rs761438511	missense variant	-	NC_000001.11:g.9872003C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Ter	rs749931176	stop gained	-	NC_000001.11:g.9872004G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Val22Met	rs774094632	missense variant	-	NC_000001.11:g.9872001C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val22Ala	rs763818220	missense variant	-	NC_000001.11:g.9872000A>G	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Leu24Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.9871995G>T	NCI-TCGA
CTNNBIP1	Q9NSA3	p.Met25Val	rs1397261310	missense variant	-	NC_000001.11:g.9871992T>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Gln	rs746418599	missense variant	-	NC_000001.11:g.9871985C>T	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Trp	rs770182367	missense variant	-	NC_000001.11:g.9871986G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Pro	rs746418599	missense variant	-	NC_000001.11:g.9871985C>G	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Met29Thr	COSM3493710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.9871979A>G	NCI-TCGA Cosmic
CTNNBIP1	Q9NSA3	p.Gly30Arg	rs1388200557	missense variant	-	NC_000001.11:g.9871977C>T	gnomAD
CTNNBIP1	Q9NSA3	p.Gly30Glu	rs777156046	missense variant	-	NC_000001.11:g.9871976C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Leu33Val	rs1209572072	missense variant	-	NC_000001.11:g.9871277G>C	gnomAD
CTNNBIP1	Q9NSA3	p.Leu33Arg	rs1330245872	missense variant	-	NC_000001.11:g.9871276A>C	gnomAD
CTNNBIP1	Q9NSA3	p.Thr34Ala	rs1212238107	missense variant	-	NC_000001.11:g.9871274T>C	TOPMed
CTNNBIP1	Q9NSA3	p.Glu37Val	rs1275561036	missense variant	-	NC_000001.11:g.9871264T>A	gnomAD
CTNNBIP1	Q9NSA3	p.Glu38Lys	rs777066136	missense variant	-	NC_000001.11:g.9871262C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Glu38Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.9871262C>G	NCI-TCGA
CTNNBIP1	Q9NSA3	p.Glu39Lys	rs574333600	missense variant	-	NC_000001.11:g.9871259C>T	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg42His	rs201081336	missense variant	-	NC_000001.11:g.9871249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg42Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.9871249C>G	NCI-TCGA
CTNNBIP1	Q9NSA3	p.Arg42Cys	rs773400948	missense variant	-	NC_000001.11:g.9871250G>A	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Tyr44Asp	rs1410552050	missense variant	-	NC_000001.11:g.9871244A>C	gnomAD
CTNNBIP1	Q9NSA3	p.Tyr44Cys	rs1191218589	missense variant	-	NC_000001.11:g.9871243T>C	gnomAD
CTNNBIP1	Q9NSA3	p.Val47Leu	rs755922514	missense variant	-	NC_000001.11:g.9871235C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Asn49Ser	rs1241714108	missense variant	-	NC_000001.11:g.9871228T>C	TOPMed
CTNNBIP1	Q9NSA3	p.Asn49Asp	rs745668650	missense variant	-	NC_000001.11:g.9871229T>C	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Ser50Arg	rs968654645	missense variant	-	NC_000001.11:g.9871224G>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ser53Asn	rs1022467751	missense variant	-	NC_000001.11:g.9871216C>T	TOPMed
CTNNBIP1	Q9NSA3	p.Gln54Ter	rs1279634076	stop gained	-	NC_000001.11:g.9871214G>A	gnomAD
CTNNBIP1	Q9NSA3	p.Leu55Pro	rs1201997978	missense variant	-	NC_000001.11:g.9871210A>G	TOPMed
CTNNBIP1	Q9NSA3	p.Pro57Leu	rs757326660	missense variant	-	NC_000001.11:g.9871204G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ile60Thr	rs1273072507	missense variant	-	NC_000001.11:g.9871195A>G	TOPMed
CTNNBIP1	Q9NSA3	p.Asp61Asn	rs1034308843	missense variant	-	NC_000001.11:g.9871193C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln62His	rs138271667	missense variant	-	NC_000001.11:g.9871188C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly63Val	rs1380242462	missense variant	-	NC_000001.11:g.9850776C>A	TOPMed
CTNNBIP1	Q9NSA3	p.Gly63Ser	rs1422513149	missense variant	-	NC_000001.11:g.9871187C>T	gnomAD
CTNNBIP1	Q9NSA3	p.Ala64Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.9850773G>A	NCI-TCGA
CTNNBIP1	Q9NSA3	p.Asp66Asn	rs1179763132	missense variant	-	NC_000001.11:g.9850768C>T	TOPMed
CTNNBIP1	Q9NSA3	p.Val67Met	rs548974391	missense variant	-	NC_000001.11:g.9850765C>T	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val67Leu	rs548974391	missense variant	-	NC_000001.11:g.9850765C>A	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val68Met	rs1371142601	missense variant	-	NC_000001.11:g.9850762C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Val68Ala	COSM4010830	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.9850761A>G	NCI-TCGA Cosmic
CTNNBIP1	Q9NSA3	p.Met69Leu	rs372414829	missense variant	-	NC_000001.11:g.9850759T>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ser74Leu	rs781187269	missense variant	-	NC_000001.11:g.9850743G>A	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Thr76Arg	rs199900946	missense variant	-	NC_000001.11:g.9850737G>C	1000Genomes,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Thr76Met	rs199900946	missense variant	-	NC_000001.11:g.9850737G>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Asp78Ala	rs369249056	missense variant	-	NC_000001.11:g.9850731T>G	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg79Gln	rs778534202	missense variant	-	NC_000001.11:g.9850728C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg79Trp	rs752154298	missense variant	-	NC_000001.11:g.9850729G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg80Thr	rs1422466855	missense variant	-	NC_000001.11:g.9850725C>G	gnomAD
CTNNBIP1	Q9NSA3	p.Gln81Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.9850723G>C	NCI-TCGA
CTNNBIP1	Q9NSA3	p.Asn2Lys	rs771836718	missense variant	-	NC_000001.11:g.9872059G>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Asn2Tyr	rs1466076982	missense variant	-	NC_000001.11:g.9872061T>A	gnomAD
CTNNBIP1	Q9NSA3	p.Arg3His	rs150360638	missense variant	-	NC_000001.11:g.9872057C>T	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3Leu	rs150360638	missense variant	-	NC_000001.11:g.9872057C>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3Cys	rs147067665	missense variant	-	NC_000001.11:g.9872058G>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Glu4Asp	rs1183573009	missense variant	-	NC_000001.11:g.9872053C>G	TOPMed
CTNNBIP1	Q9NSA3	p.Glu4Lys	rs1230381774	missense variant	-	NC_000001.11:g.9872055C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly5Val	rs1330002148	missense variant	-	NC_000001.11:g.9872051C>A	gnomAD
CTNNBIP1	Q9NSA3	p.Ala6Val	rs1299911882	missense variant	-	NC_000001.11:g.9872048G>A	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ala6Pro	rs761797446	missense variant	-	NC_000001.11:g.9872049C>G	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly8Glu	rs781302251	missense variant	-	NC_000001.11:g.9872042C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Gly8Arg	rs113935062	missense variant	-	NC_000001.11:g.9872043C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Lys9Asn	rs751743905	missense variant	-	NC_000001.11:g.9872038C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Pro11Leu	rs777994158	missense variant	-	NC_000001.11:g.9872033G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Glu13Asp	rs1189131001	missense variant	-	NC_000001.11:g.9872026C>G	gnomAD
CTNNBIP1	Q9NSA3	p.Met14Thr	rs753671543	missense variant	-	NC_000001.11:g.9872024A>G	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Ile16Val	rs1187640116	missense variant	-	NC_000001.11:g.9872019T>C	gnomAD
CTNNBIP1	Q9NSA3	p.Gln17Glu	rs1442815862	missense variant	-	NC_000001.11:g.9872016G>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln17His	rs1257745822	missense variant	-	NC_000001.11:g.9872014C>A	gnomAD
CTNNBIP1	Q9NSA3	p.Gln17Ter	rs1442815862	stop gained	-	NC_000001.11:g.9872016G>A	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln18Pro	rs1343663953	missense variant	-	NC_000001.11:g.9872012T>G	gnomAD
CTNNBIP1	Q9NSA3	p.Gln18Ter	rs367851454	stop gained	-	NC_000001.11:g.9872013G>A	ESP,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Lys19Arg	rs760722655	missense variant	-	NC_000001.11:g.9872009T>C	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Ter	rs749931176	stop gained	-	NC_000001.11:g.9872004G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Leu	rs761438511	missense variant	-	NC_000001.11:g.9872003C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Gln	rs761438511	missense variant	-	NC_000001.11:g.9872003C>T	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Val22Met	rs774094632	missense variant	-	NC_000001.11:g.9872001C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val22Ala	rs763818220	missense variant	-	NC_000001.11:g.9872000A>G	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Met25Val	rs1397261310	missense variant	-	NC_000001.11:g.9871992T>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Trp	rs770182367	missense variant	-	NC_000001.11:g.9871986G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Gln	rs746418599	missense variant	-	NC_000001.11:g.9871985C>T	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Pro	rs746418599	missense variant	-	NC_000001.11:g.9871985C>G	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly30Glu	rs777156046	missense variant	-	NC_000001.11:g.9871976C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Gly30Arg	rs1388200557	missense variant	-	NC_000001.11:g.9871977C>T	gnomAD
CTNNBIP1	Q9NSA3	p.Leu33Val	rs1209572072	missense variant	-	NC_000001.11:g.9871277G>C	gnomAD
CTNNBIP1	Q9NSA3	p.Leu33Arg	rs1330245872	missense variant	-	NC_000001.11:g.9871276A>C	gnomAD
CTNNBIP1	Q9NSA3	p.Thr34Ala	rs1212238107	missense variant	-	NC_000001.11:g.9871274T>C	TOPMed
CTNNBIP1	Q9NSA3	p.Glu37Val	rs1275561036	missense variant	-	NC_000001.11:g.9871264T>A	gnomAD
CTNNBIP1	Q9NSA3	p.Glu38Lys	rs777066136	missense variant	-	NC_000001.11:g.9871262C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Glu39Lys	rs574333600	missense variant	-	NC_000001.11:g.9871259C>T	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg42His	rs201081336	missense variant	-	NC_000001.11:g.9871249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg42Cys	rs773400948	missense variant	-	NC_000001.11:g.9871250G>A	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Tyr44Asp	rs1410552050	missense variant	-	NC_000001.11:g.9871244A>C	gnomAD
CTNNBIP1	Q9NSA3	p.Tyr44Cys	rs1191218589	missense variant	-	NC_000001.11:g.9871243T>C	gnomAD
CTNNBIP1	Q9NSA3	p.Val47Leu	rs755922514	missense variant	-	NC_000001.11:g.9871235C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Asn49Ser	rs1241714108	missense variant	-	NC_000001.11:g.9871228T>C	TOPMed
CTNNBIP1	Q9NSA3	p.Asn49Asp	rs745668650	missense variant	-	NC_000001.11:g.9871229T>C	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Ser50Arg	rs968654645	missense variant	-	NC_000001.11:g.9871224G>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ser53Asn	rs1022467751	missense variant	-	NC_000001.11:g.9871216C>T	TOPMed
CTNNBIP1	Q9NSA3	p.Gln54Ter	rs1279634076	stop gained	-	NC_000001.11:g.9871214G>A	gnomAD
CTNNBIP1	Q9NSA3	p.Leu55Pro	rs1201997978	missense variant	-	NC_000001.11:g.9871210A>G	TOPMed
CTNNBIP1	Q9NSA3	p.Pro57Leu	rs757326660	missense variant	-	NC_000001.11:g.9871204G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ile60Thr	rs1273072507	missense variant	-	NC_000001.11:g.9871195A>G	TOPMed
CTNNBIP1	Q9NSA3	p.Asp61Asn	rs1034308843	missense variant	-	NC_000001.11:g.9871193C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln62His	rs138271667	missense variant	-	NC_000001.11:g.9871188C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly63Ser	rs1422513149	missense variant	-	NC_000001.11:g.9871187C>T	gnomAD
CTNNBIP1	Q9NSA3	p.Gly63Val	rs1380242462	missense variant	-	NC_000001.11:g.9850776C>A	TOPMed
CTNNBIP1	Q9NSA3	p.Asp66Asn	rs1179763132	missense variant	-	NC_000001.11:g.9850768C>T	TOPMed
CTNNBIP1	Q9NSA3	p.Val67Met	rs548974391	missense variant	-	NC_000001.11:g.9850765C>T	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val67Leu	rs548974391	missense variant	-	NC_000001.11:g.9850765C>A	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val68Met	rs1371142601	missense variant	-	NC_000001.11:g.9850762C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Met69Leu	rs372414829	missense variant	-	NC_000001.11:g.9850759T>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ser74Leu	rs781187269	missense variant	-	NC_000001.11:g.9850743G>A	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Thr76Arg	rs199900946	missense variant	-	NC_000001.11:g.9850737G>C	1000Genomes,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Thr76Met	rs199900946	missense variant	-	NC_000001.11:g.9850737G>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Asp78Ala	rs369249056	missense variant	-	NC_000001.11:g.9850731T>G	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg79Gln	rs778534202	missense variant	-	NC_000001.11:g.9850728C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg79Trp	rs752154298	missense variant	-	NC_000001.11:g.9850729G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg80Thr	rs1422466855	missense variant	-	NC_000001.11:g.9850725C>G	gnomAD
CTNNBIP1	Q9NSA3	p.Asn2Tyr	rs1466076982	missense variant	-	NC_000001.11:g.9872061T>A	gnomAD
CTNNBIP1	Q9NSA3	p.Asn2Lys	rs771836718	missense variant	-	NC_000001.11:g.9872059G>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3Cys	rs147067665	missense variant	-	NC_000001.11:g.9872058G>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3Leu	rs150360638	missense variant	-	NC_000001.11:g.9872057C>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3His	rs150360638	missense variant	-	NC_000001.11:g.9872057C>T	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Glu4Lys	rs1230381774	missense variant	-	NC_000001.11:g.9872055C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Glu4Asp	rs1183573009	missense variant	-	NC_000001.11:g.9872053C>G	TOPMed
CTNNBIP1	Q9NSA3	p.Gly5Val	rs1330002148	missense variant	-	NC_000001.11:g.9872051C>A	gnomAD
CTNNBIP1	Q9NSA3	p.Ala6Pro	rs761797446	missense variant	-	NC_000001.11:g.9872049C>G	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ala6Val	rs1299911882	missense variant	-	NC_000001.11:g.9872048G>A	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly8Glu	rs781302251	missense variant	-	NC_000001.11:g.9872042C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Gly8Arg	rs113935062	missense variant	-	NC_000001.11:g.9872043C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Lys9Asn	rs751743905	missense variant	-	NC_000001.11:g.9872038C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Pro11Leu	rs777994158	missense variant	-	NC_000001.11:g.9872033G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Glu13Asp	rs1189131001	missense variant	-	NC_000001.11:g.9872026C>G	gnomAD
CTNNBIP1	Q9NSA3	p.Met14Thr	rs753671543	missense variant	-	NC_000001.11:g.9872024A>G	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Ile16Val	rs1187640116	missense variant	-	NC_000001.11:g.9872019T>C	gnomAD
CTNNBIP1	Q9NSA3	p.Gln17His	rs1257745822	missense variant	-	NC_000001.11:g.9872014C>A	gnomAD
CTNNBIP1	Q9NSA3	p.Gln17Ter	rs1442815862	stop gained	-	NC_000001.11:g.9872016G>A	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln17Glu	rs1442815862	missense variant	-	NC_000001.11:g.9872016G>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln18Ter	rs367851454	stop gained	-	NC_000001.11:g.9872013G>A	ESP,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Gln18Pro	rs1343663953	missense variant	-	NC_000001.11:g.9872012T>G	gnomAD
CTNNBIP1	Q9NSA3	p.Lys19Arg	rs760722655	missense variant	-	NC_000001.11:g.9872009T>C	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Leu	rs761438511	missense variant	-	NC_000001.11:g.9872003C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Gln	rs761438511	missense variant	-	NC_000001.11:g.9872003C>T	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Ter	rs749931176	stop gained	-	NC_000001.11:g.9872004G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Val22Ala	rs763818220	missense variant	-	NC_000001.11:g.9872000A>G	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val22Met	rs774094632	missense variant	-	NC_000001.11:g.9872001C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Met25Val	rs1397261310	missense variant	-	NC_000001.11:g.9871992T>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Pro	rs746418599	missense variant	-	NC_000001.11:g.9871985C>G	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Trp	rs770182367	missense variant	-	NC_000001.11:g.9871986G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Gln	rs746418599	missense variant	-	NC_000001.11:g.9871985C>T	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly30Glu	rs777156046	missense variant	-	NC_000001.11:g.9871976C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Gly30Arg	rs1388200557	missense variant	-	NC_000001.11:g.9871977C>T	gnomAD
CTNNBIP1	Q9NSA3	p.Leu33Arg	rs1330245872	missense variant	-	NC_000001.11:g.9871276A>C	gnomAD
CTNNBIP1	Q9NSA3	p.Leu33Val	rs1209572072	missense variant	-	NC_000001.11:g.9871277G>C	gnomAD
CTNNBIP1	Q9NSA3	p.Thr34Ala	rs1212238107	missense variant	-	NC_000001.11:g.9871274T>C	TOPMed
CTNNBIP1	Q9NSA3	p.Glu37Val	rs1275561036	missense variant	-	NC_000001.11:g.9871264T>A	gnomAD
CTNNBIP1	Q9NSA3	p.Glu38Lys	rs777066136	missense variant	-	NC_000001.11:g.9871262C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Glu39Lys	rs574333600	missense variant	-	NC_000001.11:g.9871259C>T	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg42Cys	rs773400948	missense variant	-	NC_000001.11:g.9871250G>A	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg42His	rs201081336	missense variant	-	NC_000001.11:g.9871249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Tyr44Cys	rs1191218589	missense variant	-	NC_000001.11:g.9871243T>C	gnomAD
CTNNBIP1	Q9NSA3	p.Tyr44Asp	rs1410552050	missense variant	-	NC_000001.11:g.9871244A>C	gnomAD
CTNNBIP1	Q9NSA3	p.Val47Leu	rs755922514	missense variant	-	NC_000001.11:g.9871235C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Asn49Asp	rs745668650	missense variant	-	NC_000001.11:g.9871229T>C	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Asn49Ser	rs1241714108	missense variant	-	NC_000001.11:g.9871228T>C	TOPMed
CTNNBIP1	Q9NSA3	p.Ser50Arg	rs968654645	missense variant	-	NC_000001.11:g.9871224G>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ser53Asn	rs1022467751	missense variant	-	NC_000001.11:g.9871216C>T	TOPMed
CTNNBIP1	Q9NSA3	p.Gln54Ter	rs1279634076	stop gained	-	NC_000001.11:g.9871214G>A	gnomAD
CTNNBIP1	Q9NSA3	p.Leu55Pro	rs1201997978	missense variant	-	NC_000001.11:g.9871210A>G	TOPMed
CTNNBIP1	Q9NSA3	p.Pro57Leu	rs757326660	missense variant	-	NC_000001.11:g.9871204G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ile60Thr	rs1273072507	missense variant	-	NC_000001.11:g.9871195A>G	TOPMed
CTNNBIP1	Q9NSA3	p.Asp61Asn	rs1034308843	missense variant	-	NC_000001.11:g.9871193C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln62His	rs138271667	missense variant	-	NC_000001.11:g.9871188C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly63Val	rs1380242462	missense variant	-	NC_000001.11:g.9850776C>A	TOPMed
CTNNBIP1	Q9NSA3	p.Gly63Ser	rs1422513149	missense variant	-	NC_000001.11:g.9871187C>T	gnomAD
CTNNBIP1	Q9NSA3	p.Asp66Asn	rs1179763132	missense variant	-	NC_000001.11:g.9850768C>T	TOPMed
CTNNBIP1	Q9NSA3	p.Val67Leu	rs548974391	missense variant	-	NC_000001.11:g.9850765C>A	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val67Met	rs548974391	missense variant	-	NC_000001.11:g.9850765C>T	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val68Met	rs1371142601	missense variant	-	NC_000001.11:g.9850762C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Met69Leu	rs372414829	missense variant	-	NC_000001.11:g.9850759T>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ser74Leu	rs781187269	missense variant	-	NC_000001.11:g.9850743G>A	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Thr76Arg	rs199900946	missense variant	-	NC_000001.11:g.9850737G>C	1000Genomes,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Thr76Met	rs199900946	missense variant	-	NC_000001.11:g.9850737G>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Asp78Ala	rs369249056	missense variant	-	NC_000001.11:g.9850731T>G	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg79Trp	rs752154298	missense variant	-	NC_000001.11:g.9850729G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg79Gln	rs778534202	missense variant	-	NC_000001.11:g.9850728C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg80Thr	rs1422466855	missense variant	-	NC_000001.11:g.9850725C>G	gnomAD
CTNNBIP1	Q9NSA3	p.Asn2Tyr	rs1466076982	missense variant	-	NC_000001.11:g.9872061T>A	gnomAD
CTNNBIP1	Q9NSA3	p.Asn2Lys	rs771836718	missense variant	-	NC_000001.11:g.9872059G>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3Cys	rs147067665	missense variant	-	NC_000001.11:g.9872058G>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3His	rs150360638	missense variant	-	NC_000001.11:g.9872057C>T	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg3Leu	rs150360638	missense variant	-	NC_000001.11:g.9872057C>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Glu4Asp	rs1183573009	missense variant	-	NC_000001.11:g.9872053C>G	TOPMed
CTNNBIP1	Q9NSA3	p.Glu4Lys	rs1230381774	missense variant	-	NC_000001.11:g.9872055C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly5Val	rs1330002148	missense variant	-	NC_000001.11:g.9872051C>A	gnomAD
CTNNBIP1	Q9NSA3	p.Ala6Pro	rs761797446	missense variant	-	NC_000001.11:g.9872049C>G	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ala6Val	rs1299911882	missense variant	-	NC_000001.11:g.9872048G>A	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly8Glu	rs781302251	missense variant	-	NC_000001.11:g.9872042C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Gly8Arg	rs113935062	missense variant	-	NC_000001.11:g.9872043C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Lys9Asn	rs751743905	missense variant	-	NC_000001.11:g.9872038C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Pro11Leu	rs777994158	missense variant	-	NC_000001.11:g.9872033G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Glu13Asp	rs1189131001	missense variant	-	NC_000001.11:g.9872026C>G	gnomAD
CTNNBIP1	Q9NSA3	p.Met14Thr	rs753671543	missense variant	-	NC_000001.11:g.9872024A>G	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Ile16Val	rs1187640116	missense variant	-	NC_000001.11:g.9872019T>C	gnomAD
CTNNBIP1	Q9NSA3	p.Gln17Ter	rs1442815862	stop gained	-	NC_000001.11:g.9872016G>A	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln17His	rs1257745822	missense variant	-	NC_000001.11:g.9872014C>A	gnomAD
CTNNBIP1	Q9NSA3	p.Gln17Glu	rs1442815862	missense variant	-	NC_000001.11:g.9872016G>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln18Ter	rs367851454	stop gained	-	NC_000001.11:g.9872013G>A	ESP,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Gln18Pro	rs1343663953	missense variant	-	NC_000001.11:g.9872012T>G	gnomAD
CTNNBIP1	Q9NSA3	p.Lys19Arg	rs760722655	missense variant	-	NC_000001.11:g.9872009T>C	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Ter	rs749931176	stop gained	-	NC_000001.11:g.9872004G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Leu	rs761438511	missense variant	-	NC_000001.11:g.9872003C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg21Gln	rs761438511	missense variant	-	NC_000001.11:g.9872003C>T	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Val22Ala	rs763818220	missense variant	-	NC_000001.11:g.9872000A>G	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val22Met	rs774094632	missense variant	-	NC_000001.11:g.9872001C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Met25Val	rs1397261310	missense variant	-	NC_000001.11:g.9871992T>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Pro	rs746418599	missense variant	-	NC_000001.11:g.9871985C>G	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Trp	rs770182367	missense variant	-	NC_000001.11:g.9871986G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg27Gln	rs746418599	missense variant	-	NC_000001.11:g.9871985C>T	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly30Glu	rs777156046	missense variant	-	NC_000001.11:g.9871976C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Gly30Arg	rs1388200557	missense variant	-	NC_000001.11:g.9871977C>T	gnomAD
CTNNBIP1	Q9NSA3	p.Leu33Arg	rs1330245872	missense variant	-	NC_000001.11:g.9871276A>C	gnomAD
CTNNBIP1	Q9NSA3	p.Leu33Val	rs1209572072	missense variant	-	NC_000001.11:g.9871277G>C	gnomAD
CTNNBIP1	Q9NSA3	p.Thr34Ala	rs1212238107	missense variant	-	NC_000001.11:g.9871274T>C	TOPMed
CTNNBIP1	Q9NSA3	p.Glu37Val	rs1275561036	missense variant	-	NC_000001.11:g.9871264T>A	gnomAD
CTNNBIP1	Q9NSA3	p.Glu38Lys	rs777066136	missense variant	-	NC_000001.11:g.9871262C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Glu39Lys	rs574333600	missense variant	-	NC_000001.11:g.9871259C>T	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg42Cys	rs773400948	missense variant	-	NC_000001.11:g.9871250G>A	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg42His	rs201081336	missense variant	-	NC_000001.11:g.9871249C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Tyr44Cys	rs1191218589	missense variant	-	NC_000001.11:g.9871243T>C	gnomAD
CTNNBIP1	Q9NSA3	p.Tyr44Asp	rs1410552050	missense variant	-	NC_000001.11:g.9871244A>C	gnomAD
CTNNBIP1	Q9NSA3	p.Val47Leu	rs755922514	missense variant	-	NC_000001.11:g.9871235C>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Asn49Asp	rs745668650	missense variant	-	NC_000001.11:g.9871229T>C	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Asn49Ser	rs1241714108	missense variant	-	NC_000001.11:g.9871228T>C	TOPMed
CTNNBIP1	Q9NSA3	p.Ser50Arg	rs968654645	missense variant	-	NC_000001.11:g.9871224G>C	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ser53Asn	rs1022467751	missense variant	-	NC_000001.11:g.9871216C>T	TOPMed
CTNNBIP1	Q9NSA3	p.Gln54Ter	rs1279634076	stop gained	-	NC_000001.11:g.9871214G>A	gnomAD
CTNNBIP1	Q9NSA3	p.Leu55Pro	rs1201997978	missense variant	-	NC_000001.11:g.9871210A>G	TOPMed
CTNNBIP1	Q9NSA3	p.Pro57Leu	rs757326660	missense variant	-	NC_000001.11:g.9871204G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ile60Thr	rs1273072507	missense variant	-	NC_000001.11:g.9871195A>G	TOPMed
CTNNBIP1	Q9NSA3	p.Asp61Asn	rs1034308843	missense variant	-	NC_000001.11:g.9871193C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gln62His	rs138271667	missense variant	-	NC_000001.11:g.9871188C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Gly63Val	rs1380242462	missense variant	-	NC_000001.11:g.9850776C>A	TOPMed
CTNNBIP1	Q9NSA3	p.Gly63Ser	rs1422513149	missense variant	-	NC_000001.11:g.9871187C>T	gnomAD
CTNNBIP1	Q9NSA3	p.Asp66Asn	rs1179763132	missense variant	-	NC_000001.11:g.9850768C>T	TOPMed
CTNNBIP1	Q9NSA3	p.Val67Met	rs548974391	missense variant	-	NC_000001.11:g.9850765C>T	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val67Leu	rs548974391	missense variant	-	NC_000001.11:g.9850765C>A	1000Genomes,ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Val68Met	rs1371142601	missense variant	-	NC_000001.11:g.9850762C>T	TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Met69Leu	rs372414829	missense variant	-	NC_000001.11:g.9850759T>A	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Ser74Leu	rs781187269	missense variant	-	NC_000001.11:g.9850743G>A	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Thr76Arg	rs199900946	missense variant	-	NC_000001.11:g.9850737G>C	1000Genomes,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Thr76Met	rs199900946	missense variant	-	NC_000001.11:g.9850737G>A	1000Genomes,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Asp78Ala	rs369249056	missense variant	-	NC_000001.11:g.9850731T>G	ESP,ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg79Trp	rs752154298	missense variant	-	NC_000001.11:g.9850729G>A	ExAC,TOPMed,gnomAD
CTNNBIP1	Q9NSA3	p.Arg79Gln	rs778534202	missense variant	-	NC_000001.11:g.9850728C>T	ExAC,gnomAD
CTNNBIP1	Q9NSA3	p.Arg80Thr	rs1422466855	missense variant	-	NC_000001.11:g.9850725C>G	gnomAD
PDS5B	Q9NTI5	p.Ser4Ala	rs751420517	missense variant	-	NC_000013.11:g.32648782T>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asn9Ser	rs781562934	missense variant	-	NC_000013.11:g.32648798A>G	gnomAD
PDS5B	Q9NTI5	p.Asp10Ala	COSM469370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32648801A>C	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Gly11Ala	rs767540581	missense variant	-	NC_000013.11:g.32648804G>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys12Asn	rs1460695118	missense variant	-	NC_000013.11:g.32648808A>C	gnomAD
PDS5B	Q9NTI5	p.Ile13Leu	rs1188432583	missense variant	-	NC_000013.11:g.32648809A>C	TOPMed
PDS5B	Q9NTI5	p.Ile13Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32648810T>A	NCI-TCGA
PDS5B	Q9NTI5	p.Thr14Ile	rs753814020	missense variant	-	NC_000013.11:g.32648813C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro17Leu	rs1354814057	missense variant	-	NC_000013.11:g.32648822C>T	gnomAD
PDS5B	Q9NTI5	p.Asp24AlaAsnGln	NCI-TCGA novel	insertion	-	NC_000013.11:g.32648844_32648845insGCAAACCAA	NCI-TCGA
PDS5B	Q9NTI5	p.Ile26Val	rs758755385	missense variant	-	NC_000013.11:g.32648848A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg34Ter	COSM696711	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32648872C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg34Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32648873G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Met37Leu	rs1191950703	missense variant	-	NC_000013.11:g.32651804A>T	gnomAD
PDS5B	Q9NTI5	p.Met37Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32651806G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Phe42Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32651820T>G	NCI-TCGA
PDS5B	Q9NTI5	p.Met45Ile	COSM6074227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32651830G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Asp48Glu	rs1454725407	missense variant	-	NC_000013.11:g.32651839C>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu51Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.32651846G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Glu54Val	COSM696710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32651856A>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Tyr56Ter	COSM946919	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32651863T>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Asn58Ser	rs768251039	missense variant	-	NC_000013.11:g.32651868A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ala64Gly	rs543763906	missense variant	-	NC_000013.11:g.32651886C>G	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp66His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32651891G>C	NCI-TCGA
PDS5B	Q9NTI5	p.Phe68Val	rs1302181938	missense variant	-	NC_000013.11:g.32651897T>G	gnomAD
PDS5B	Q9NTI5	p.Leu69SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32651893T>-	NCI-TCGA
PDS5B	Q9NTI5	p.Asp73Ala	rs562368652	missense variant	-	NC_000013.11:g.32651913A>C	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp73Val	rs562368652	missense variant	-	NC_000013.11:g.32651913A>T	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg77His	rs1171951389	missense variant	-	NC_000013.11:g.32651925G>A	TOPMed
PDS5B	Q9NTI5	p.Arg77Cys	rs760662173	missense variant	-	NC_000013.11:g.32651924C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val80Ile	rs774820664	missense variant	-	NC_000013.11:g.32651933G>A	gnomAD
PDS5B	Q9NTI5	p.Val80Leu	rs774820664	missense variant	-	NC_000013.11:g.32651933G>T	gnomAD
PDS5B	Q9NTI5	p.Cys83Trp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32651944C>G	NCI-TCGA
PDS5B	Q9NTI5	p.Ala95Thr	rs200754284	missense variant	-	NC_000013.11:g.32651978G>A	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Ala95LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32651978G>-	NCI-TCGA
PDS5B	Q9NTI5	p.Tyr97Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32651985A>T	NCI-TCGA
PDS5B	Q9NTI5	p.Asp105Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32658239G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Asp105Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32658239G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Ile106Met	rs747655979	missense variant	-	NC_000013.11:g.32658244A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile110Val	rs1276851923	missense variant	-	NC_000013.11:g.32658254A>G	gnomAD
PDS5B	Q9NTI5	p.Thr111Ser	rs758049642	missense variant	-	NC_000013.11:g.32658257A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg112AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32658259A>-	NCI-TCGA
PDS5B	Q9NTI5	p.Gln113Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32658264A>T	NCI-TCGA
PDS5B	Q9NTI5	p.Leu114Val	rs1187094282	missense variant	-	NC_000013.11:g.32658266T>G	gnomAD
PDS5B	Q9NTI5	p.Asp119Tyr	rs1473625825	missense variant	-	NC_000013.11:g.32658281G>T	gnomAD
PDS5B	Q9NTI5	p.Lys121Arg	rs1429993203	missense variant	-	NC_000013.11:g.32658288A>G	gnomAD
PDS5B	Q9NTI5	p.Lys121Glu	rs746730729	missense variant	-	NC_000013.11:g.32658287A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser122Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32658291G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Pro123Ser	rs1170002394	missense variant	-	NC_000013.11:g.32658293C>T	gnomAD
PDS5B	Q9NTI5	p.Asn126His	rs1414354538	missense variant	-	NC_000013.11:g.32658302A>C	TOPMed
PDS5B	Q9NTI5	p.Asn126Ser	rs776621536	missense variant	-	NC_000013.11:g.32658303A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Tyr128Asn	rs201036001	missense variant	-	NC_000013.11:g.32658308T>A	1000Genomes
PDS5B	Q9NTI5	p.Ser140Leu	COSM4825452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32658453C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Glu146Ter	rs1344942356	stop gained	-	NC_000013.11:g.32658470G>T	gnomAD
PDS5B	Q9NTI5	p.Ser150Asn	rs1436125357	missense variant	-	NC_000013.11:g.32658483G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser150Gly	rs1374238475	missense variant	-	NC_000013.11:g.32658482A>G	gnomAD
PDS5B	Q9NTI5	p.Ser150Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32658483G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Asn151Ser	rs1044190460	missense variant	-	NC_000013.11:g.32658486A>G	TOPMed
PDS5B	Q9NTI5	p.Leu161Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32658515T>G	NCI-TCGA
PDS5B	Q9NTI5	p.Ile165Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32658527A>T	NCI-TCGA
PDS5B	Q9NTI5	p.Asn166Ser	rs1368884119	missense variant	-	NC_000013.11:g.32658531A>G	gnomAD
PDS5B	Q9NTI5	p.Asn167Ser	rs200126943	missense variant	-	NC_000013.11:g.32659156A>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val173Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32659173G>C	NCI-TCGA
PDS5B	Q9NTI5	p.Ile184Val	COSM696709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32659206A>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ile184Thr	rs1445361167	missense variant	-	NC_000013.11:g.32659207T>C	TOPMed
PDS5B	Q9NTI5	p.Ile185Val	rs201417958	missense variant	-	NC_000013.11:g.32659209A>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asp189Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32659221G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Thr198Met	rs919606360	missense variant	-	NC_000013.11:g.32659249C>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr198Ala	rs776961501	missense variant	-	NC_000013.11:g.32659248A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val199Ala	rs1184860074	missense variant	-	NC_000013.11:g.32659252T>C	gnomAD
PDS5B	Q9NTI5	p.Asn202Ile	COSM432329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32659261A>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Pro205Ser	rs1416112170	missense variant	-	NC_000013.11:g.32659269C>T	gnomAD
PDS5B	Q9NTI5	p.His207Arg	rs1164002505	missense variant	-	NC_000013.11:g.32659276A>G	gnomAD
PDS5B	Q9NTI5	p.His207Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32659275C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Lys212Arg	rs761438791	missense variant	-	NC_000013.11:g.32667774A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gln213Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32667776C>G	NCI-TCGA
PDS5B	Q9NTI5	p.Asp216Asn	COSM5070095	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32667785G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ala218Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32667791G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Leu222Met	rs1324382029	missense variant	-	NC_000013.11:g.32667803C>A	gnomAD
PDS5B	Q9NTI5	p.Ile229Val	rs892869982	missense variant	-	NC_000013.11:g.32667824A>G	TOPMed
PDS5B	Q9NTI5	p.Tyr232Phe	rs755854224	missense variant	-	NC_000013.11:g.32667834A>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gly244Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32673240G>C	NCI-TCGA
PDS5B	Q9NTI5	p.Ile248Val	rs1433739500	missense variant	-	NC_000013.11:g.32673252A>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asp250Asn	rs766107170	missense variant	-	NC_000013.11:g.32673258G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp250Gly	rs1315776759	missense variant	-	NC_000013.11:g.32673259A>G	gnomAD
PDS5B	Q9NTI5	p.His254Arg	rs753529885	missense variant	-	NC_000013.11:g.32673271A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val255Leu	rs765096593	missense variant	-	NC_000013.11:g.32673273G>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val255Ile	rs765096593	missense variant	-	NC_000013.11:g.32673273G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp257Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32673279G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Leu260Val	rs758392202	missense variant	-	NC_000013.11:g.32673288T>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser267Gly	rs746005102	missense variant	-	NC_000013.11:g.32673309A>G	ExAC,TOPMed
PDS5B	Q9NTI5	p.Ser267Asn	rs531302540	missense variant	-	NC_000013.11:g.32673310G>A	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.His268Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32673312C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Val273Leu	rs1327531112	missense variant	-	NC_000013.11:g.32673327G>C	gnomAD
PDS5B	Q9NTI5	p.Leu281GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32673346_32673350TTAAA>-	NCI-TCGA
PDS5B	Q9NTI5	p.Asn284Ser	rs780080379	missense variant	-	NC_000013.11:g.32675848A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asp285Tyr	COSM3813732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32675850G>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg289His	COSM220518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32675863G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Phe300Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32675896T>C	NCI-TCGA
PDS5B	Q9NTI5	p.Gly301Arg	rs1429705686	missense variant	-	NC_000013.11:g.32675898G>A	gnomAD
PDS5B	Q9NTI5	p.Lys303Asn	COSM946921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32675906G>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Lys303Arg	rs1026409433	missense variant	-	NC_000013.11:g.32675905A>G	TOPMed
PDS5B	Q9NTI5	p.Asp304Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32675907G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Ala308Ser	rs778379535	missense variant	-	NC_000013.11:g.32675919G>T	ExAC
PDS5B	Q9NTI5	p.Ala308Pro	rs778379535	missense variant	-	NC_000013.11:g.32675919G>C	ExAC
PDS5B	Q9NTI5	p.Ser309Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32675923C>A	NCI-TCGA
PDS5B	Q9NTI5	p.Gln310Lys	rs201478116	missense variant	-	NC_000013.11:g.32675925C>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gln310Glu	rs201478116	missense variant	-	NC_000013.11:g.32675925C>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asn311Lys	rs199607822	missense variant	-	NC_000013.11:g.32675930C>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gln316Pro	rs1230211717	missense variant	-	NC_000013.11:g.32675944A>C	gnomAD
PDS5B	Q9NTI5	p.Leu319Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32675954G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Gly320Asp	rs1309544178	missense variant	-	NC_000013.11:g.32675956G>A	TOPMed
PDS5B	Q9NTI5	p.Phe322Leu	rs767404184	missense variant	-	NC_000013.11:g.32678838T>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp324Asn	COSM432330	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32678842G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.His326Arg	COSM1128383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32678849A>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.His326Asn	rs1172456909	missense variant	-	NC_000013.11:g.32678848C>A	gnomAD
PDS5B	Q9NTI5	p.Ile329Met	rs575047428	missense variant	-	NC_000013.11:g.32678859C>G	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ile329Val	rs76367683	missense variant	-	NC_000013.11:g.32678857A>G	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg330Cys	rs765491512	missense variant	-	NC_000013.11:g.32678860C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg330His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32678861G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Lys335Asn	rs1322688694	missense variant	-	NC_000013.11:g.32678877A>T	gnomAD
PDS5B	Q9NTI5	p.Ala337Ser	rs758611025	missense variant	-	NC_000013.11:g.32678881G>T	ExAC
PDS5B	Q9NTI5	p.Ala337Val	rs764483823	missense variant	-	NC_000013.11:g.32678882C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser338Arg	rs751915066	missense variant	-	NC_000013.11:g.32678886C>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser338Asn	rs1436949681	missense variant	-	NC_000013.11:g.32678885G>A	TOPMed
PDS5B	Q9NTI5	p.His339Arg	rs1369469862	missense variant	-	NC_000013.11:g.32678888A>G	gnomAD
PDS5B	Q9NTI5	p.His339Tyr	rs373958138	missense variant	-	NC_000013.11:g.32678887C>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Leu341Val	rs781685062	missense variant	-	NC_000013.11:g.32678893C>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Met342Val	rs1267235421	missense variant	-	NC_000013.11:g.32678896A>G	gnomAD
PDS5B	Q9NTI5	p.Leu347Ser	rs745309199	missense variant	-	NC_000013.11:g.32678912T>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ala348Thr	rs1210161951	missense variant	-	NC_000013.11:g.32678914G>A	gnomAD
PDS5B	Q9NTI5	p.Lys349Thr	rs755633896	missense variant	-	NC_000013.11:g.32678918A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp350Tyr	rs377123942	missense variant	-	NC_000013.11:g.32678920G>T	ESP,TOPMed
PDS5B	Q9NTI5	p.Thr352Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32678926A>T	NCI-TCGA
PDS5B	Q9NTI5	p.Tyr354Ter	rs754611179	stop gained	-	NC_000013.11:g.32683882T>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys356Ile	rs1163950827	missense variant	-	NC_000013.11:g.32683887A>T	gnomAD
PDS5B	Q9NTI5	p.Val357Met	rs778463028	missense variant	-	NC_000013.11:g.32683889G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.His360Arg	rs1307278458	missense variant	-	NC_000013.11:g.32683899A>G	gnomAD
PDS5B	Q9NTI5	p.Pro362Ser	rs372718271	missense variant	-	NC_000013.11:g.32683904C>T	ESP,TOPMed
PDS5B	Q9NTI5	p.Ala365Ser	COSM946923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32683913G>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ala365Val	rs1392991781	missense variant	-	NC_000013.11:g.32683914C>T	gnomAD
PDS5B	Q9NTI5	p.Asp369Glu	rs772008707	missense variant	-	NC_000013.11:g.32683927T>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp369Glu	rs772008707	missense variant	-	NC_000013.11:g.32683927T>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val372Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32683935T>G	NCI-TCGA
PDS5B	Q9NTI5	p.Thr376Ile	rs746943017	missense variant	-	NC_000013.11:g.32683947C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ala378Thr	rs1012452699	missense variant	-	NC_000013.11:g.32683952G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys379Glu	rs771037519	missense variant	-	NC_000013.11:g.32683955A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys380ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32683955A>-	NCI-TCGA
PDS5B	Q9NTI5	p.Asp381GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32683954_32683955insA	NCI-TCGA
PDS5B	Q9NTI5	p.Ile382Val	rs531281981	missense variant	-	NC_000013.11:g.32683964A>G	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Leu384Gln	rs762971030	missense variant	-	NC_000013.11:g.32683971T>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val385Leu	rs542938836	missense variant	-	NC_000013.11:g.32683973G>C	1000Genomes
PDS5B	Q9NTI5	p.Val385Ala	rs1188449989	missense variant	-	NC_000013.11:g.32683974T>C	gnomAD
PDS5B	Q9NTI5	p.Asn386Ser	rs762151880	missense variant	-	NC_000013.11:g.32683977A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.His388Arg	rs767862907	missense variant	-	NC_000013.11:g.32683983A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.His388Gln	rs1000960337	missense variant	-	NC_000013.11:g.32683984C>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg394Ter	rs750827034	stop gained	-	NC_000013.11:g.32684000A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg401Gln	COSM946924	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32684022G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Val404Leu	rs779313668	missense variant	-	NC_000013.11:g.32687140G>T	TOPMed
PDS5B	Q9NTI5	p.Val404Ala	rs1331031039	missense variant	-	NC_000013.11:g.32687141T>C	gnomAD
PDS5B	Q9NTI5	p.Val404Ile	rs779313668	missense variant	-	NC_000013.11:g.32687140G>A	TOPMed
PDS5B	Q9NTI5	p.Arg405Cys	rs1224573363	missense variant	-	NC_000013.11:g.32687143C>T	gnomAD
PDS5B	Q9NTI5	p.Glu407Lys	rs1265364570	missense variant	-	NC_000013.11:g.32687149G>A	gnomAD
PDS5B	Q9NTI5	p.Met409Leu	rs1327398579	missense variant	-	NC_000013.11:g.32687155A>C	gnomAD
PDS5B	Q9NTI5	p.Met409Ile	rs923273558	missense variant	-	NC_000013.11:g.32687157G>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Met409Ile	rs923273558	missense variant	-	NC_000013.11:g.32687157G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Met410Leu	rs201233373	missense variant	-	NC_000013.11:g.32687158A>C	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala413Val	rs1486858499	missense variant	-	NC_000013.11:g.32687168C>T	gnomAD
PDS5B	Q9NTI5	p.Gln414His	rs760135184	missense variant	-	NC_000013.11:g.32687172A>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gln422Leu	rs1433691100	missense variant	-	NC_000013.11:g.32687195A>T	gnomAD
PDS5B	Q9NTI5	p.Ser423Leu	COSM4816682	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32687198C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ala424Val	rs187063067	missense variant	-	NC_000013.11:g.32687201C>T	1000Genomes,TOPMed
PDS5B	Q9NTI5	p.Asp428Gly	rs770573615	missense variant	-	NC_000013.11:g.32687213A>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala429Val	rs1159366978	missense variant	-	NC_000013.11:g.32687216C>T	gnomAD
PDS5B	Q9NTI5	p.Ala430Thr	rs777576101	missense variant	-	NC_000013.11:g.32687218G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys437Glu	rs1292419350	missense variant	-	NC_000013.11:g.32687239A>G	gnomAD
PDS5B	Q9NTI5	p.Asp438Glu	rs1390704144	missense variant	-	NC_000013.11:g.32687244C>A	gnomAD
PDS5B	Q9NTI5	p.His442Pro	COSM469372	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32687255A>C	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.His442Tyr	rs1336099549	missense variant	-	NC_000013.11:g.32687254C>T	gnomAD
PDS5B	Q9NTI5	p.Ile443Met	rs757143130	missense variant	-	NC_000013.11:g.32687259A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asn447Ser	rs781091794	missense variant	-	NC_000013.11:g.32687270A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser448Asn	rs1020300073	missense variant	-	NC_000013.11:g.32687273G>A	TOPMed
PDS5B	Q9NTI5	p.Ile449Val	rs1228033079	missense variant	-	NC_000013.11:g.32687275A>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg452Ter	COSM3468432	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32687284C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg452Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32687285G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Arg457Trp	rs369886085	missense variant	-	NC_000013.11:g.32688469C>T	ESP,ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg457Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32688470G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Ile458Thr	rs1445854371	missense variant	-	NC_000013.11:g.32688473T>C	gnomAD
PDS5B	Q9NTI5	p.Pro465His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32688494C>A	NCI-TCGA
PDS5B	Q9NTI5	p.His466Tyr	rs757012627	missense variant	-	NC_000013.11:g.32688496C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asn467Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32688500A>C	NCI-TCGA
PDS5B	Q9NTI5	p.Glu469Gly	rs370614330	missense variant	-	NC_000013.11:g.32688506A>G	ESP,TOPMed
PDS5B	Q9NTI5	p.Thr471Ala	rs200569285	missense variant	-	NC_000013.11:g.32688511A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg473Gln	rs1302412247	missense variant	-	NC_000013.11:g.32688518G>A	gnomAD
PDS5B	Q9NTI5	p.Lys475Asn	rs1198049328	missense variant	-	NC_000013.11:g.32688525A>T	gnomAD
PDS5B	Q9NTI5	p.Cys476Arg	rs545451662	missense variant	-	NC_000013.11:g.32688526T>C	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Cys476Trp	rs780044352	missense variant	-	NC_000013.11:g.32688528C>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Leu480Phe	rs1215043654	missense variant	-	NC_000013.11:g.32688540G>C	gnomAD
PDS5B	Q9NTI5	p.Leu486Ile	rs1274879984	missense variant	-	NC_000013.11:g.32688556T>A	gnomAD
PDS5B	Q9NTI5	p.Asn487Ser	rs1310155372	missense variant	-	NC_000013.11:g.32688560A>G	gnomAD
PDS5B	Q9NTI5	p.Lys490Arg	rs1274371425	missense variant	-	NC_000013.11:g.32688569A>G	gnomAD
PDS5B	Q9NTI5	p.Glu494Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.32694233G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Met495Val	rs766129931	missense variant	-	NC_000013.11:g.32694236A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gln499Glu	rs1490922857	missense variant	-	NC_000013.11:g.32694248C>G	gnomAD
PDS5B	Q9NTI5	p.Arg503Gln	rs1200647108	missense variant	-	NC_000013.11:g.32694261G>A	gnomAD
PDS5B	Q9NTI5	p.Asp508Asn	COSM6074226	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32694275G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ile513Val	rs1363503512	missense variant	-	NC_000013.11:g.32694290A>G	gnomAD
PDS5B	Q9NTI5	p.Ile513Met	rs1246265175	missense variant	-	NC_000013.11:g.32694292T>G	TOPMed
PDS5B	Q9NTI5	p.Lys514Met	rs759453772	missense variant	-	NC_000013.11:g.32694294A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys517Glu	rs1253881522	missense variant	-	NC_000013.11:g.32694302A>G	TOPMed
PDS5B	Q9NTI5	p.Asp519Glu	rs756348587	missense variant	-	NC_000013.11:g.32696859T>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ala520Thr	rs1324234828	missense variant	-	NC_000013.11:g.32696860G>A	TOPMed
PDS5B	Q9NTI5	p.Ser521Gly	rs1277283430	missense variant	-	NC_000013.11:g.32696863A>G	TOPMed
PDS5B	Q9NTI5	p.Ser521Ile	rs1276855995	missense variant	-	NC_000013.11:g.32696864G>T	gnomAD
PDS5B	Q9NTI5	p.Val522Ile	rs1216586901	missense variant	-	NC_000013.11:g.32696866G>A	TOPMed
PDS5B	Q9NTI5	p.Ile525Leu	rs766713161	missense variant	-	NC_000013.11:g.32696875A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile525Val	rs766713161	missense variant	-	NC_000013.11:g.32696875A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile525Met	rs754216080	missense variant	-	NC_000013.11:g.32696877A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser527Leu	COSM6074225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32696882C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ser527Pro	rs755415004	missense variant	-	NC_000013.11:g.32696881T>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val529Leu	rs905662202	missense variant	-	NC_000013.11:g.32696887G>C	TOPMed
PDS5B	Q9NTI5	p.Val529Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32696887G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Met530Lys	rs1192303784	missense variant	-	NC_000013.11:g.32696891T>A	gnomAD
PDS5B	Q9NTI5	p.Ile532Val	rs999904089	missense variant	-	NC_000013.11:g.32696896A>G	TOPMed
PDS5B	Q9NTI5	p.Pro539Ser	COSM3468434	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32699744C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ala542Thr	rs1385813419	missense variant	-	NC_000013.11:g.32699753G>A	gnomAD
PDS5B	Q9NTI5	p.Ala542Val	rs763954128	missense variant	-	NC_000013.11:g.32699754C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Met546Thr	rs368293336	missense variant	-	NC_000013.11:g.32699766T>C	ESP,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Met546Val	rs760869498	missense variant	-	NC_000013.11:g.32699765A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Phe549Leu	rs1301702392	missense variant	-	NC_000013.11:g.32699774T>C	gnomAD
PDS5B	Q9NTI5	p.Val552Met	rs766659799	missense variant	-	NC_000013.11:g.32699783G>A	ExAC
PDS5B	Q9NTI5	p.Glu557Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32699798G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Arg560Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32699808G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Lys561Arg	rs1224355344	missense variant	-	NC_000013.11:g.32699811A>G	gnomAD
PDS5B	Q9NTI5	p.Glu564Gln	rs1185821488	missense variant	-	NC_000013.11:g.32699819G>C	TOPMed
PDS5B	Q9NTI5	p.Val565Ala	rs754089644	missense variant	-	NC_000013.11:g.32699823T>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser568Arg	rs755290106	missense variant	-	NC_000013.11:g.32699833T>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro569Ser	rs201690929	missense variant	-	NC_000013.11:g.32699834C>T	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr570Ala	rs778143977	missense variant	-	NC_000013.11:g.32699837A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser572Phe	rs1267939121	missense variant	-	NC_000013.11:g.32699844C>T	gnomAD
PDS5B	Q9NTI5	p.Gln575His	rs1490433505	missense variant	-	NC_000013.11:g.32699854G>C	gnomAD
PDS5B	Q9NTI5	p.Ala576Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32699855G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Glu577Asp	rs770700386	missense variant	-	NC_000013.11:g.32699860A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu577Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32699858G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Gly578Ala	rs780724468	missense variant	-	NC_000013.11:g.32699862G>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val580Met	rs1209124850	missense variant	-	NC_000013.11:g.32699867G>A	TOPMed
PDS5B	Q9NTI5	p.Arg581His	rs755726788	missense variant	-	NC_000013.11:g.32701324G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg581Cys	rs749950731	missense variant	-	NC_000013.11:g.32701323C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu582Asp	rs1425810502	missense variant	-	NC_000013.11:g.32701328A>T	gnomAD
PDS5B	Q9NTI5	p.Thr584Ser	COSM4047119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701333C>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Gly588Cys	rs779604613	missense variant	-	NC_000013.11:g.32701344G>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asn589Asp	rs1168484452	missense variant	-	NC_000013.11:g.32701347A>G	TOPMed
PDS5B	Q9NTI5	p.Asn589Ser	rs1461687269	missense variant	-	NC_000013.11:g.32701348A>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro590Leu	rs749063180	missense variant	-	NC_000013.11:g.32701351C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gln592Glu	rs1375794456	missense variant	-	NC_000013.11:g.32701356C>G	gnomAD
PDS5B	Q9NTI5	p.Pro596Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32701369C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Met600Val	rs778808858	missense variant	-	NC_000013.11:g.32701380A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys602Arg	rs748091825	missense variant	-	NC_000013.11:g.32701387A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Leu604Ile	COSM3813733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701392C>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ile608Val	rs1366541053	missense variant	-	NC_000013.11:g.32701404A>G	TOPMed
PDS5B	Q9NTI5	p.Pro610Leu	COSM946927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701411C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ile613Val	rs1475338159	missense variant	-	NC_000013.11:g.32701419A>G	TOPMed
PDS5B	Q9NTI5	p.Asp614Asn	COSM469373	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701422G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Thr615Ala	rs1158019592	missense variant	-	NC_000013.11:g.32701425A>G	gnomAD
PDS5B	Q9NTI5	p.Thr615Asn	rs1252757251	missense variant	-	NC_000013.11:g.32701426C>A	gnomAD
PDS5B	Q9NTI5	p.Glu616Lys	rs1012892127	missense variant	-	NC_000013.11:g.32701428G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser617Tyr	COSM4047120	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32701432C>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ser617Pro	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32701431T>C	NCI-TCGA
PDS5B	Q9NTI5	p.Ile618Val	rs770013286	missense variant	-	NC_000013.11:g.32701434A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile618Ser	rs1483782321	missense variant	-	NC_000013.11:g.32701435T>G	TOPMed
PDS5B	Q9NTI5	p.Ile622Val	rs1316280392	missense variant	-	NC_000013.11:g.32706941A>G	gnomAD
PDS5B	Q9NTI5	p.Gln624Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32706948A>T	NCI-TCGA
PDS5B	Q9NTI5	p.Val625Met	rs745907437	missense variant	-	NC_000013.11:g.32706950G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys627Glu	COSM1322906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32706956A>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ser628Leu	COSM1477202	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32706960C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ile629Val	rs769735925	missense variant	-	NC_000013.11:g.32706962A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp630Glu	rs373985167	missense variant	-	NC_000013.11:g.32706967T>A	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala633Thr	rs1283605513	missense variant	-	NC_000013.11:g.32706974G>A	gnomAD
PDS5B	Q9NTI5	p.Ala633Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32706974G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Gly639Arg	rs1211341519	missense variant	-	NC_000013.11:g.32706992G>C	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr642Ala	rs769114985	missense variant	-	NC_000013.11:g.32707001A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp643Glu	rs774633053	missense variant	-	NC_000013.11:g.32707006T>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gln644Glu	rs141013786	missense variant	-	NC_000013.11:g.32707007C>G	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ile646SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32707013A>-	NCI-TCGA
PDS5B	Q9NTI5	p.Arg647Lys	COSM1477203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32707017G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ala648Val	rs1430299859	missense variant	-	NC_000013.11:g.32707020C>T	gnomAD
PDS5B	Q9NTI5	p.Ala648Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32707019G>A	NCI-TCGA
PDS5B	Q9NTI5	p.His660Tyr	rs773691423	missense variant	-	NC_000013.11:g.32709961C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile662Thr	rs761071669	missense variant	-	NC_000013.11:g.32709968T>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser663Pro	rs1448414572	missense variant	-	NC_000013.11:g.32709970T>C	gnomAD
PDS5B	Q9NTI5	p.Ser663Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.32709971C>A	NCI-TCGA
PDS5B	Q9NTI5	p.His665Tyr	rs200904367	missense variant	-	NC_000013.11:g.32709976C>T	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser666Cys	rs1036621710	missense variant	-	NC_000013.11:g.32709980C>G	TOPMed
PDS5B	Q9NTI5	p.Ala667Pro	rs775936578	missense variant	-	NC_000013.11:g.32709982G>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala667Val	rs1245817177	missense variant	-	NC_000013.11:g.32709983C>T	gnomAD
PDS5B	Q9NTI5	p.Phe670Cys	rs1292973675	missense variant	-	NC_000013.11:g.32709992T>G	gnomAD
PDS5B	Q9NTI5	p.Glu671Gln	rs1358832782	missense variant	-	NC_000013.11:g.32709994G>C	gnomAD
PDS5B	Q9NTI5	p.Cys676Phe	rs201409031	missense variant	-	NC_000013.11:g.32710010G>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys678Ter	rs763970274	stop gained	-	NC_000013.11:g.32710015A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Met679Lys	rs751386086	missense variant	-	NC_000013.11:g.32710019T>A	ExAC
PDS5B	Q9NTI5	p.Glu682Gly	rs1184067850	missense variant	-	NC_000013.11:g.32710028A>G	gnomAD
PDS5B	Q9NTI5	p.Val684Gly	rs757080546	missense variant	-	NC_000013.11:g.32710034T>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu686Gly	rs1410411660	missense variant	-	NC_000013.11:g.32710040A>G	TOPMed
PDS5B	Q9NTI5	p.Ala687Gly	rs568979193	missense variant	-	NC_000013.11:g.32710043C>G	1000Genomes
PDS5B	Q9NTI5	p.Ala687Ser	rs781224937	missense variant	-	NC_000013.11:g.32710042G>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gln690His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32710053A>C	NCI-TCGA
PDS5B	Q9NTI5	p.Ile691PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32710052A>-	NCI-TCGA
PDS5B	Q9NTI5	p.Phe692Leu	rs1167083521	missense variant	-	NC_000013.11:g.32710057T>C	gnomAD
PDS5B	Q9NTI5	p.Lys693Arg	rs749278869	missense variant	-	NC_000013.11:g.32710061A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys693GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32710054_32710055insT	NCI-TCGA
PDS5B	Q9NTI5	p.Ser697Gly	rs779006241	missense variant	-	NC_000013.11:g.32710072A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser697Asn	rs536413051	missense variant	-	NC_000013.11:g.32710073G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys698Arg	rs1452557557	missense variant	-	NC_000013.11:g.32710076A>G	gnomAD
PDS5B	Q9NTI5	p.Lys698Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32710075A>G	NCI-TCGA
PDS5B	Q9NTI5	p.Ile699Val	rs1314152520	missense variant	-	NC_000013.11:g.32710078A>G	gnomAD
PDS5B	Q9NTI5	p.Glu701Asp	rs772336273	missense variant	-	NC_000013.11:g.32710086G>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile706GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32710094_32710095CA>-	NCI-TCGA
PDS5B	Q9NTI5	p.Arg707Ser	rs1340361230	missense variant	-	NC_000013.11:g.32710104A>C	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser708Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32710106C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Leu714Val	rs775076226	missense variant	-	NC_000013.11:g.32732117T>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.His715Leu	rs762588126	missense variant	-	NC_000013.11:g.32732121A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.His715Arg	rs762588126	missense variant	-	NC_000013.11:g.32732121A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.His716Tyr	rs768148525	missense variant	-	NC_000013.11:g.32732123C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.His716Arg	rs569961723	missense variant	-	NC_000013.11:g.32732124A>G	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys717Thr	rs1177643357	missense variant	-	NC_000013.11:g.32732127A>C	gnomAD
PDS5B	Q9NTI5	p.Lys719Arg	rs919311339	missense variant	-	NC_000013.11:g.32732133A>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys719Thr	rs919311339	missense variant	-	NC_000013.11:g.32732133A>C	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys720Arg	rs537445322	missense variant	-	NC_000013.11:g.32732136A>G	1000Genomes
PDS5B	Q9NTI5	p.Gly721AspPheSerTerUnkUnk	COSM4713417	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32732132A>-	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Gly721Arg	COSM5039906	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32732138G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg724ValPheSerTerUnkUnk	COSM2071748	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32732141C>-	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg724Cys	rs767341994	missense variant	-	NC_000013.11:g.32732147C>T	NCI-TCGA,NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg724Cys	rs767341994	missense variant	-	NC_000013.11:g.32732147C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile730Val	rs752733557	missense variant	-	NC_000013.11:g.32732165A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.His731Tyr	rs758492069	missense variant	-	NC_000013.11:g.32732168C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile733Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32732175T>G	NCI-TCGA
PDS5B	Q9NTI5	p.His734Arg	rs777760743	missense variant	-	NC_000013.11:g.32732178A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.His734Pro	rs777760743	missense variant	-	NC_000013.11:g.32732178A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ala735Val	rs751771151	missense variant	-	NC_000013.11:g.32732181C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile736Met	rs781565299	missense variant	-	NC_000013.11:g.32732185A>G	ExAC
PDS5B	Q9NTI5	p.Ser738Pro	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32732189T>C	NCI-TCGA
PDS5B	Q9NTI5	p.Ser738Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32732190C>A	NCI-TCGA
PDS5B	Q9NTI5	p.Ser739Gly	rs1290709624	missense variant	-	NC_000013.11:g.32732192A>G	gnomAD
PDS5B	Q9NTI5	p.Lys740Arg	rs1192513832	missense variant	-	NC_000013.11:g.32732196A>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys740Glu	rs1488618488	missense variant	-	NC_000013.11:g.32732195A>G	gnomAD
PDS5B	Q9NTI5	p.Thr742Ile	rs1247813471	missense variant	-	NC_000013.11:g.32732202C>T	gnomAD
PDS5B	Q9NTI5	p.Phe744Leu	COSM4047122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32732207T>C	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Phe744Val	rs1355073020	missense variant	-	NC_000013.11:g.32732207T>G	TOPMed
PDS5B	Q9NTI5	p.Ile747Leu	rs1455062571	missense variant	-	NC_000013.11:g.32732216A>T	TOPMed
PDS5B	Q9NTI5	p.Pro750Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32735172C>A	NCI-TCGA
PDS5B	Q9NTI5	p.His752Leu	rs201553782	missense variant	-	NC_000013.11:g.32735179A>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys753Asn	rs751646556	missense variant	-	NC_000013.11:g.32735183G>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro757Leu	rs757437802	missense variant	-	NC_000013.11:g.32735194C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asn759Lys	rs1390006441	missense variant	-	NC_000013.11:g.32735201C>G	TOPMed
PDS5B	Q9NTI5	p.Leu760Pro	rs1353018939	missense variant	-	NC_000013.11:g.32735203T>C	gnomAD
PDS5B	Q9NTI5	p.Leu760Val	rs777243341	missense variant	-	NC_000013.11:g.32735202C>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu761Lys	COSM3468435	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32735205G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Glu761Gln	rs1166939493	missense variant	-	NC_000013.11:g.32735205G>C	TOPMed
PDS5B	Q9NTI5	p.Glu761Asp	rs969697140	missense variant	-	NC_000013.11:g.32735207A>C	TOPMed
PDS5B	Q9NTI5	p.Glu761Gly	rs1461635470	missense variant	-	NC_000013.11:g.32735206A>G	gnomAD
PDS5B	Q9NTI5	p.His762Tyr	rs756528524	missense variant	-	NC_000013.11:g.32735208C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Leu763Val	rs1181303141	missense variant	-	NC_000013.11:g.32735211C>G	TOPMed
PDS5B	Q9NTI5	p.Ile764Val	rs780606336	missense variant	-	NC_000013.11:g.32735214A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr765Ala	rs759929528	missense variant	-	NC_000013.11:g.32735217A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr765Ser	rs759929528	missense variant	-	NC_000013.11:g.32735217A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro766Ser	rs755496373	missense variant	-	NC_000013.11:g.32735220C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro766Thr	rs755496373	missense variant	-	NC_000013.11:g.32735220C>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro766Ser	rs755496373	missense variant	-	NC_000013.11:g.32735220C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Ile770Val	rs747614808	missense variant	-	NC_000013.11:g.32735232A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile770Leu	rs747614808	missense variant	-	NC_000013.11:g.32735232A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Leu775Val	rs771715623	missense variant	-	NC_000013.11:g.32735247C>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Leu775Phe	rs771715623	missense variant	-	NC_000013.11:g.32735247C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala777Val	rs772872687	missense variant	-	NC_000013.11:g.32735254C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro778Ser	rs746709122	missense variant	-	NC_000013.11:g.32735256C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala783Pro	rs1483847950	missense variant	-	NC_000013.11:g.32735271G>C	gnomAD
PDS5B	Q9NTI5	p.Ala790Val	rs1273699173	missense variant	-	NC_000013.11:g.32735293C>T	TOPMed
PDS5B	Q9NTI5	p.Phe792Tyr	rs958158846	missense variant	-	NC_000013.11:g.32735299T>A	TOPMed
PDS5B	Q9NTI5	p.Leu797Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32735313C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Arg802Trp	rs761825713	missense variant	-	NC_000013.11:g.32735328C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg802Gln	rs1011247880	missense variant	-	NC_000013.11:g.32735329G>A	-
PDS5B	Q9NTI5	p.Arg802Gln	rs1011247880	missense variant	-	NC_000013.11:g.32735329G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg802Trp	rs761825713	missense variant	-	NC_000013.11:g.32735328C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Leu803Phe	rs759839732	missense variant	-	NC_000013.11:g.32741080C>T	ExAC
PDS5B	Q9NTI5	p.Pro804Thr	rs1353592337	missense variant	-	NC_000013.11:g.32741083C>A	NCI-TCGA
PDS5B	Q9NTI5	p.Pro804Gln	rs1359315669	missense variant	-	NC_000013.11:g.32741084C>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro804Thr	rs1353592337	missense variant	-	NC_000013.11:g.32741083C>A	gnomAD
PDS5B	Q9NTI5	p.Pro804Leu	rs1359315669	missense variant	-	NC_000013.11:g.32741084C>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro804Ser	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32741083C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Gly805Glu	rs1217844063	missense variant	-	NC_000013.11:g.32741087G>A	gnomAD
PDS5B	Q9NTI5	p.Lys806Glu	rs1288536328	missense variant	-	NC_000013.11:g.32741089A>G	gnomAD
PDS5B	Q9NTI5	p.Lys807ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32741089A>-	NCI-TCGA
PDS5B	Q9NTI5	p.Thr809Ala	rs765682907	missense variant	-	NC_000013.11:g.32741098A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr809Ser	rs753108964	missense variant	-	NC_000013.11:g.32741099C>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro814Ser	rs375941657	missense variant	-	NC_000013.11:g.32741113C>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asp815Val	rs1200835274	missense variant	-	NC_000013.11:g.32741117A>T	TOPMed
PDS5B	Q9NTI5	p.Asp815His	rs751080949	missense variant	-	NC_000013.11:g.32741116G>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu816Lys	COSM3369063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32741119G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Val818Ile	rs1420192513	missense variant	-	NC_000013.11:g.32741125G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val818Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32741125G>C	NCI-TCGA
PDS5B	Q9NTI5	p.Ser819Ala	rs756866518	missense variant	-	NC_000013.11:g.32741128T>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu821Gln	COSM1300164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32741134G>C	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Met823Val	rs200545607	missense variant	-	NC_000013.11:g.32741140A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala828Ser	rs751024805	missense variant	-	NC_000013.11:g.32742597G>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Met832Leu	rs756741816	missense variant	-	NC_000013.11:g.32742609A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val833Ile	rs1251740461	missense variant	-	NC_000013.11:g.32742612G>A	gnomAD
PDS5B	Q9NTI5	p.Arg834Ter	COSM262892	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32742615C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg834Gln	rs1448343235	missense variant	-	NC_000013.11:g.32742616G>A	gnomAD
PDS5B	Q9NTI5	p.Arg834Gln	rs1448343235	missense variant	-	NC_000013.11:g.32742616G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Trp835Ter	COSM469374	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32742620G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Leu837Phe	rs780799154	missense variant	-	NC_000013.11:g.32742624C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asn841Ser	rs1455975588	missense variant	-	NC_000013.11:g.32742637A>G	gnomAD
PDS5B	Q9NTI5	p.His843Tyr	rs575547797	missense variant	-	NC_000013.11:g.32742642C>T	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.His843Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32742642C>A	NCI-TCGA
PDS5B	Q9NTI5	p.Lys845Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32742648A>G	NCI-TCGA
PDS5B	Q9NTI5	p.Lys845Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32742649A>G	NCI-TCGA
PDS5B	Q9NTI5	p.Gly847Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32742654G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Thr848Ile	rs754928363	missense variant	-	NC_000013.11:g.32742658C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr848Ser	rs749100665	missense variant	-	NC_000013.11:g.32742657A>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg852Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32742670G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Thr856Ala	rs771103165	missense variant	-	NC_000013.11:g.32742681A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile857Val	rs9591299	missense variant	-	NC_000013.11:g.32742684A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ile857Leu	rs9591299	missense variant	-	NC_000013.11:g.32742684A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.His859Arg	rs1229074397	missense variant	-	NC_000013.11:g.32742691A>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.His859Arg	rs1229074397	missense variant	-	NC_000013.11:g.32742691A>G	TOPMed
PDS5B	Q9NTI5	p.Ser860Gly	rs746061423	missense variant	-	NC_000013.11:g.32742693A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp863Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32742704C>A	NCI-TCGA
PDS5B	Q9NTI5	p.Glu866Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.32742711G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Lys869Asn	rs770066127	missense variant	-	NC_000013.11:g.32742722A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser871Cys	rs1282244544	missense variant	-	NC_000013.11:g.32742726A>T	TOPMed
PDS5B	Q9NTI5	p.Lys872Glu	rs1030903801	missense variant	-	NC_000013.11:g.32745978A>G	TOPMed
PDS5B	Q9NTI5	p.Asp874Tyr	rs781070954	missense variant	-	NC_000013.11:g.32745984G>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Met875Thr	rs775534093	missense variant	-	NC_000013.11:g.32745988T>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Met875Ile	rs1346874315	missense variant	-	NC_000013.11:g.32745989G>A	TOPMed
PDS5B	Q9NTI5	p.Arg877His	rs1329917777	missense variant	-	NC_000013.11:g.32745994G>A	gnomAD
PDS5B	Q9NTI5	p.Ala881Thr	rs1275003751	missense variant	-	NC_000013.11:g.32746005G>A	TOPMed
PDS5B	Q9NTI5	p.Ser884Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32746014A>T	NCI-TCGA
PDS5B	Q9NTI5	p.Ala885Gly	rs769865449	missense variant	-	NC_000013.11:g.32746018C>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile886Phe	rs373562128	missense variant	-	NC_000013.11:g.32746020A>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ile886Val	rs373562128	missense variant	-	NC_000013.11:g.32746020A>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu892Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32746038G>A	NCI-TCGA
PDS5B	Q9NTI5	p.His896Tyr	rs1297941540	missense variant	-	NC_000013.11:g.32746050C>T	gnomAD
PDS5B	Q9NTI5	p.Glu897Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32746053G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Ile898Val	rs1341398463	missense variant	-	NC_000013.11:g.32746056A>G	gnomAD
PDS5B	Q9NTI5	p.Glu902Gly	rs1299286042	missense variant	-	NC_000013.11:g.32746069A>G	gnomAD
PDS5B	Q9NTI5	p.Gln903Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32746072A>T	NCI-TCGA
PDS5B	Q9NTI5	p.Tyr904His	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32746074T>C	NCI-TCGA
PDS5B	Q9NTI5	p.Ala910Ser	rs762250547	missense variant	-	NC_000013.11:g.32746092G>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile911Val	rs544071856	missense variant	-	NC_000013.11:g.32746095A>G	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asn912Asp	rs772558626	missense variant	-	NC_000013.11:g.32746098A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asp913Gly	rs368282660	missense variant	-	NC_000013.11:g.32753333A>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Tyr916Cys	rs773744529	missense variant	-	NC_000013.11:g.32753342A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gln917Glu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32753344C>G	NCI-TCGA
PDS5B	Q9NTI5	p.Gln920Arg	rs1434238061	missense variant	-	NC_000013.11:g.32753354A>G	TOPMed
PDS5B	Q9NTI5	p.Val921Met	COSM3885252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32753356G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Val921Leu	rs770557336	missense variant	-	NC_000013.11:g.32753356G>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala923Thr	rs1226440830	missense variant	-	NC_000013.11:g.32753362G>A	gnomAD
PDS5B	Q9NTI5	p.Leu930Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32753383C>A	NCI-TCGA
PDS5B	Q9NTI5	p.Ser931Phe	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32753387C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Arg932Cys	rs752499156	missense variant	-	NC_000013.11:g.32753389C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg932His	rs762827021	missense variant	-	NC_000013.11:g.32753390G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg932His	rs762827021	missense variant	-	NC_000013.11:g.32753390G>A	NCI-TCGA,NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg932Gly	rs752499156	missense variant	-	NC_000013.11:g.32753389C>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg934Gln	rs751511121	missense variant	-	NC_000013.11:g.32753396G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg934Trp	rs763837658	missense variant	-	NC_000013.11:g.32753395C>T	NCI-TCGA,NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg934Trp	rs763837658	missense variant	-	NC_000013.11:g.32753395C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro936Ser	rs1481883016	missense variant	-	NC_000013.11:g.32753401C>T	gnomAD
PDS5B	Q9NTI5	p.Leu937Val	rs1346595719	missense variant	-	NC_000013.11:g.32753404C>G	TOPMed
PDS5B	Q9NTI5	p.Glu938Gln	COSM3399346	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32753407G>C	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ile942Val	rs1457455796	missense variant	-	NC_000013.11:g.32753419A>G	gnomAD
PDS5B	Q9NTI5	p.Ile942Met	rs780051189	missense variant	-	NC_000013.11:g.32753421C>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp949Tyr	COSM946933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32753440G>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Pro950Thr	rs755156362	missense variant	-	NC_000013.11:g.32753443C>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu953Asp	rs181714377	missense variant	-	NC_000013.11:g.32753454G>C	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu953Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32753453A>G	NCI-TCGA
PDS5B	Q9NTI5	p.Val963Leu	rs1163499157	missense variant	-	NC_000013.11:g.32753482G>C	gnomAD
PDS5B	Q9NTI5	p.Asn965Asp	COSM267159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32753488A>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Val968Ile	rs1402415374	missense variant	-	NC_000013.11:g.32753497G>A	gnomAD
PDS5B	Q9NTI5	p.Arg970Trp	rs772449393	missense variant	-	NC_000013.11:g.32753503C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg970Gln	rs778062577	missense variant	-	NC_000013.11:g.32753504G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Tyr972Cys	rs771577580	missense variant	-	NC_000013.11:g.32753510A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Tyr972Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.32753510_32753511insACAACTTCAGATATAAAATTTGCTAT	NCI-TCGA
PDS5B	Q9NTI5	p.Lys982Arg	rs1347734811	missense variant	-	NC_000013.11:g.32755845A>G	gnomAD
PDS5B	Q9NTI5	p.Leu984Phe	rs1366169340	missense variant	-	NC_000013.11:g.32755852G>C	gnomAD
PDS5B	Q9NTI5	p.Tyr990Cys	rs1218236168	missense variant	-	NC_000013.11:g.32755869A>G	TOPMed
PDS5B	Q9NTI5	p.Val992Ile	rs368991844	missense variant	-	NC_000013.11:g.32755874G>A	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ile996Val	rs376918130	missense variant	-	NC_000013.11:g.32755886A>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.His997Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32755889C>G	NCI-TCGA
PDS5B	Q9NTI5	p.Leu999Phe	COSM75898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32755897G>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Leu999Ser	rs1450041298	missense variant	-	NC_000013.11:g.32755896T>C	gnomAD
PDS5B	Q9NTI5	p.Asp1002Val	rs751901764	missense variant	-	NC_000013.11:g.32755905A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val1006Phe	rs1287560671	missense variant	-	NC_000013.11:g.32755916G>T	TOPMed
PDS5B	Q9NTI5	p.Lys1007Arg	rs1379599405	missense variant	-	NC_000013.11:g.32755920A>G	gnomAD
PDS5B	Q9NTI5	p.Asp1010His	rs1346105327	missense variant	-	NC_000013.11:g.32755928G>C	TOPMed
PDS5B	Q9NTI5	p.Ile1011Leu	rs757672463	missense variant	-	NC_000013.11:g.32755931A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1015Glu	rs781733468	missense variant	-	NC_000013.11:g.32755943A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val1017Ile	rs1404344387	missense variant	-	NC_000013.11:g.32755949G>A	gnomAD
PDS5B	Q9NTI5	p.Glu1019Asp	rs775599012	missense variant	-	NC_000013.11:g.32758087A>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Cys1020Phe	rs1392417853	missense variant	-	NC_000013.11:g.32758089G>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Leu1021Phe	rs762964326	missense variant	-	NC_000013.11:g.32758091C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Trp1022Cys	rs1294188172	missense variant	-	NC_000013.11:g.32758096G>T	gnomAD
PDS5B	Q9NTI5	p.Trp1022Leu	rs1447745460	missense variant	-	NC_000013.11:g.32758095G>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val1024Phe	rs1357574243	missense variant	-	NC_000013.11:g.32758100G>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Leu1025Val	rs1216910575	missense variant	-	NC_000013.11:g.32758103C>G	gnomAD
PDS5B	Q9NTI5	p.Leu1028Ile	rs751798602	missense variant	-	NC_000013.11:g.32758112T>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Met1029Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32758117G>C	NCI-TCGA
PDS5B	Q9NTI5	p.Glu1033Asp	rs767936982	missense variant	-	NC_000013.11:g.32758129A>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asn1034Thr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32758131A>C	NCI-TCGA
PDS5B	Q9NTI5	p.Asn1035Ser	rs1276414537	missense variant	-	NC_000013.11:g.32758134A>G	gnomAD
PDS5B	Q9NTI5	p.Asn1035Ser	rs1276414537	missense variant	-	NC_000013.11:g.32758134A>G	NCI-TCGA
PDS5B	Q9NTI5	p.Ser1036Thr	rs1441692805	missense variant	-	NC_000013.11:g.32758137G>C	gnomAD
PDS5B	Q9NTI5	p.His1037Tyr	rs750822666	missense variant	-	NC_000013.11:g.32758139C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala1038Thr	rs780451612	missense variant	-	NC_000013.11:g.32758142G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala1038Thr	rs780451612	missense variant	-	NC_000013.11:g.32758142G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Lys1042Arg	rs1394533834	missense variant	-	NC_000013.11:g.32758155A>G	TOPMed
PDS5B	Q9NTI5	p.Met1043Ile	NCI-TCGA novel	inframe deletion	-	NC_000013.11:g.32758158_32758160TGG>-	NCI-TCGA
PDS5B	Q9NTI5	p.Val1044Ala	rs1463064929	missense variant	-	NC_000013.11:g.32758161T>C	gnomAD
PDS5B	Q9NTI5	p.Glu1045Gln	rs778555380	missense variant	-	NC_000013.11:g.32758163G>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu1045Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32758165A>C	NCI-TCGA
PDS5B	Q9NTI5	p.Ile1047Thr	rs1400662234	missense variant	-	NC_000013.11:g.32758170T>C	gnomAD
PDS5B	Q9NTI5	p.Thr1050Arg	rs747783591	missense variant	-	NC_000013.11:g.32758179C>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asp1057Asn	rs1313827404	missense variant	-	NC_000013.11:g.32758199G>A	gnomAD
PDS5B	Q9NTI5	p.Ala1059Val	rs187975521	missense variant	-	NC_000013.11:g.32758206C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Met1061Ile	rs1398322380	missense variant	-	NC_000013.11:g.32758213G>T	gnomAD
PDS5B	Q9NTI5	p.Thr1067Ser	rs1260986490	missense variant	-	NC_000013.11:g.32758544C>G	gnomAD
PDS5B	Q9NTI5	p.Thr1067Ala	rs368655122	missense variant	-	NC_000013.11:g.32758543A>G	ESP,ExAC,gnomAD
PDS5B	Q9NTI5	p.Val1071Ile	rs745736876	missense variant	-	NC_000013.11:g.32758555G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ala1072Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32758559C>T	NCI-TCGA
PDS5B	Q9NTI5	p.Ile1076Val	rs769776320	missense variant	-	NC_000013.11:g.32758570A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys1079Asn	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32758581G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Thr1082Ser	rs1265987542	missense variant	-	NC_000013.11:g.32758588A>T	gnomAD
PDS5B	Q9NTI5	p.Leu1085Ser	rs1258137004	missense variant	-	NC_000013.11:g.32758598T>C	gnomAD
PDS5B	Q9NTI5	p.Pro1088Ser	rs773541144	missense variant	-	NC_000013.11:g.32758606C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1089Glu	rs1438266408	missense variant	-	NC_000013.11:g.32758609A>G	gnomAD
PDS5B	Q9NTI5	p.Asp1090His	rs942804283	missense variant	-	NC_000013.11:g.32758612G>C	TOPMed
PDS5B	Q9NTI5	p.Pro1091GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32758614_32758615CC>-	NCI-TCGA
PDS5B	Q9NTI5	p.Val1092Ile	rs935875113	missense variant	-	NC_000013.11:g.32758618G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val1092Leu	rs935875113	missense variant	-	NC_000013.11:g.32758618G>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1096His	rs777063647	missense variant	-	NC_000013.11:g.32758631G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1096Cys	rs1390184939	missense variant	-	NC_000013.11:g.32758630C>T	gnomAD
PDS5B	Q9NTI5	p.Gln1100His	rs765759745	missense variant	-	NC_000013.11:g.32758644A>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gln1100Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32758642C>A	NCI-TCGA
PDS5B	Q9NTI5	p.Pro1101Ser	rs752150928	missense variant	-	NC_000013.11:g.32758645C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro1101His	rs757880615	missense variant	-	NC_000013.11:g.32758646C>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asn1104Ser	rs1052176017	missense variant	-	NC_000013.11:g.32759629A>G	TOPMed
PDS5B	Q9NTI5	p.Phe1105Val	rs1255552301	missense variant	-	NC_000013.11:g.32759631T>G	gnomAD
PDS5B	Q9NTI5	p.Thr1108Ser	rs1204511439	missense variant	-	NC_000013.11:g.32759641C>G	gnomAD
PDS5B	Q9NTI5	p.Asn1110Ser	rs1293937286	missense variant	-	NC_000013.11:g.32759647A>G	TOPMed
PDS5B	Q9NTI5	p.Tyr1111Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32759650A>G	NCI-TCGA
PDS5B	Q9NTI5	p.Met1116Ile	COSM3468436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32759666G>C	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Met1116Ile	rs1007855930	missense variant	-	NC_000013.11:g.32759666G>A	TOPMed
PDS5B	Q9NTI5	p.Met1116Ile	rs1007855930	missense variant	-	NC_000013.11:g.32759666G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Phe1120Cys	rs1475635962	missense variant	-	NC_000013.11:g.32759677T>G	gnomAD
PDS5B	Q9NTI5	p.Thr1121Ser	rs763517620	missense variant	-	NC_000013.11:g.32759680C>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1124Ile	rs1286379643	missense variant	-	NC_000013.11:g.32759689A>T	TOPMed
PDS5B	Q9NTI5	p.Pro1125Ser	rs1332084700	missense variant	-	NC_000013.11:g.32760575C>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1127Ala	rs763385447	missense variant	-	NC_000013.11:g.32760581A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr1127Lys	rs1454677486	missense variant	-	NC_000013.11:g.32760582C>A	TOPMed
PDS5B	Q9NTI5	p.Asn1129Ser	rs773686532	missense variant	-	NC_000013.11:g.32760588A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gly1132Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32760596G>C	NCI-TCGA
PDS5B	Q9NTI5	p.Val1134Ile	rs761365360	missense variant	-	NC_000013.11:g.32760602G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val1134Phe	rs761365360	missense variant	-	NC_000013.11:g.32760602G>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asn1135Lys	rs750089431	missense variant	-	NC_000013.11:g.32760607C>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro1137Ser	rs766221676	missense variant	-	NC_000013.11:g.32760611C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1139Pro	rs753687272	missense variant	-	NC_000013.11:g.32760617T>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1143Arg	rs200178558	missense variant	-	NC_000013.11:g.32760630A>G	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gln1144Lys	rs1216624268	missense variant	-	NC_000013.11:g.32760632C>A	gnomAD
PDS5B	Q9NTI5	p.Gln1144His	rs777740232	missense variant	-	NC_000013.11:g.32760634A>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gln1146His	rs781195833	missense variant	-	NC_000013.11:g.32760640G>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1147Pro	rs746074870	missense variant	-	NC_000013.11:g.32760641A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1148Arg	rs558856899	missense variant	-	NC_000013.11:g.32760645A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg1151Ter	COSM5089811	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32760653C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg1151Gln	rs1156563527	missense variant	-	NC_000013.11:g.32760654G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1151Gln	rs1156563527	missense variant	-	NC_000013.11:g.32760654G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Met1152Lys	rs1406833684	missense variant	-	NC_000013.11:g.32760657T>A	gnomAD
PDS5B	Q9NTI5	p.Glu1153Gly	rs1400861161	missense variant	-	NC_000013.11:g.32760660A>G	gnomAD
PDS5B	Q9NTI5	p.Thr1154Ala	rs1268218734	missense variant	-	NC_000013.11:g.32760662A>G	gnomAD
PDS5B	Q9NTI5	p.Ser1160Asn	rs1435121344	missense variant	-	NC_000013.11:g.32760681G>A	gnomAD
PDS5B	Q9NTI5	p.Ser1162Thr	rs1279283591	missense variant	-	NC_000013.11:g.32760686T>A	TOPMed
PDS5B	Q9NTI5	p.Ser1165Gly	rs1325871753	missense variant	-	NC_000013.11:g.32760695A>G	gnomAD
PDS5B	Q9NTI5	p.Arg1169Ile	rs768951693	missense variant	-	NC_000013.11:g.32760708G>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gly1172Glu	rs774891315	missense variant	-	NC_000013.11:g.32760717G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg1173Lys	rs1349512563	missense variant	-	NC_000013.11:g.32760720G>A	TOPMed
PDS5B	Q9NTI5	p.Ser1177Phe	rs373374290	missense variant	-	NC_000013.11:g.32764500C>T	ESP,TOPMed
PDS5B	Q9NTI5	p.Met1179Val	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32764505A>G	NCI-TCGA
PDS5B	Q9NTI5	p.Ser1182Gly	rs772804477	missense variant	-	NC_000013.11:g.32764514A>G	ExAC
PDS5B	Q9NTI5	p.Ser1182Cys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32764514A>T	NCI-TCGA
PDS5B	Q9NTI5	p.Glu1185Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32764523G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Asp1186Glu	rs1474651926	missense variant	-	NC_000013.11:g.32764528T>A	gnomAD
PDS5B	Q9NTI5	p.Asp1186Gly	rs1296869217	missense variant	-	NC_000013.11:g.32764527A>G	TOPMed
PDS5B	Q9NTI5	p.Thr1188Ala	COSM1317901	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32764532A>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Met1189Thr	rs1419312344	missense variant	-	NC_000013.11:g.32764536T>C	gnomAD
PDS5B	Q9NTI5	p.Ser1190Cys	rs770612427	missense variant	-	NC_000013.11:g.32764539C>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro1192Ser	rs1166707044	missense variant	-	NC_000013.11:g.32764544C>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro1194Leu	rs375525966	missense variant	-	NC_000013.11:g.32764551C>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro1194Ser	rs776388530	missense variant	-	NC_000013.11:g.32764550C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro1194Ala	rs776388530	missense variant	-	NC_000013.11:g.32764550C>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gly1195Glu	rs1391240906	missense variant	-	NC_000013.11:g.32764554G>A	gnomAD
PDS5B	Q9NTI5	p.Gly1195Arg	rs775161495	missense variant	-	NC_000013.11:g.32764553G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1196Glu	rs762880354	missense variant	-	NC_000013.11:g.32764556A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser1198Asn	rs751547227	missense variant	-	NC_000013.11:g.32764563G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1198ValPheSerTerUnkUnk	rs755801132	frameshift	-	NC_000013.11:g.32764556A>-	NCI-TCGA
PDS5B	Q9NTI5	p.Ser1198Gly	rs1424382780	missense variant	-	NC_000013.11:g.32764562A>G	TOPMed
PDS5B	Q9NTI5	p.Ser1198ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32764552G>-	NCI-TCGA
PDS5B	Q9NTI5	p.Asp1199Glu	rs756157790	missense variant	-	NC_000013.11:g.32764567C>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys1200Arg	rs372444745	missense variant	-	NC_000013.11:g.32764569A>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys1200Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32764568A>C	NCI-TCGA
PDS5B	Q9NTI5	p.Asp1203Asn	rs755171245	missense variant	-	NC_000013.11:g.32764577G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1204Phe	rs779274141	missense variant	-	NC_000013.11:g.32764581C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val1207Ala	rs748496007	missense variant	-	NC_000013.11:g.32764590T>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser1209Thr	rs199994437	missense variant	-	NC_000013.11:g.32770121T>A	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1209Phe	rs761675479	missense variant	-	NC_000013.11:g.32770122C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Leu1211Met	rs201027085	missense variant	-	NC_000013.11:g.32770127T>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Leu1211Phe	rs776727729	missense variant	-	NC_000013.11:g.32770129G>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu1212Ala	rs759508637	missense variant	-	NC_000013.11:g.32770131A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1213Asn	rs371312440	missense variant	-	NC_000013.11:g.32770135G>C	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys1213Asn	rs371312440	missense variant	-	NC_000013.11:g.32770135G>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro1214Thr	rs763321690	missense variant	-	NC_000013.11:g.32770136C>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1215Lys	rs375703958	missense variant	-	NC_000013.11:g.32770140G>A	ESP,TOPMed
PDS5B	Q9NTI5	p.Gly1216Cys	COSM946937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770142G>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg1217Lys	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32770146G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Lys1218Arg	rs751975727	missense variant	-	NC_000013.11:g.32770149A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1218Glu	rs764493540	missense variant	-	NC_000013.11:g.32770148A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr1220ArgPheSerTerUnkUnk	COSM1366530	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32770148A>-	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Thr1220Lys	rs199723708	missense variant	-	NC_000013.11:g.32770155C>A	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1220Met	rs199723708	missense variant	-	NC_000013.11:g.32770155C>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1220Arg	rs199723708	missense variant	-	NC_000013.11:g.32770155C>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val1222Ile	rs374693255	missense variant	-	NC_000013.11:g.32770160G>A	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val1222Ala	rs1390575100	missense variant	-	NC_000013.11:g.32770161T>C	gnomAD
PDS5B	Q9NTI5	p.Glu1224Gly	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32770167A>G	NCI-TCGA
PDS5B	Q9NTI5	p.Glu1227Gly	rs537308538	missense variant	-	NC_000013.11:g.32770176A>G	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Leu1229Ser	rs772987297	missense variant	-	NC_000013.11:g.32770182T>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gly1230Arg	rs760729065	missense variant	-	NC_000013.11:g.32770184G>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Met1231Arg	rs117969190	missense variant	-	NC_000013.11:g.32770188T>G	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asp1233Asn	rs775651934	missense variant	-	NC_000013.11:g.32770193G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1236Glu	rs1251556293	missense variant	-	NC_000013.11:g.32770202A>G	gnomAD
PDS5B	Q9NTI5	p.Val1238Leu	rs376232625	missense variant	-	NC_000013.11:g.32770208G>T	ESP,ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu1240Gly	rs1417318879	missense variant	-	NC_000013.11:g.32770215A>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1246Arg	COSM946938	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770234T>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ser1246Arg	rs1167067651	missense variant	-	NC_000013.11:g.32770234T>G	gnomAD
PDS5B	Q9NTI5	p.Gln1247Lys	rs762237475	missense variant	-	NC_000013.11:g.32770235C>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg1248Ter	COSM246520	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32770238C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg1248Gln	rs202027997	missense variant	-	NC_000013.11:g.32770239G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1249Asn	rs750883382	missense variant	-	NC_000013.11:g.32770242G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg1250Gln	rs368330829	missense variant	-	NC_000013.11:g.32770245G>A	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1250Trp	rs534821517	missense variant	-	NC_000013.11:g.32770244C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1252Ile	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32770251G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Gly1253Asp	rs371825057	missense variant	-	NC_000013.11:g.32770254G>A	ESP
PDS5B	Q9NTI5	p.Thr1255Met	rs375215091	missense variant	-	NC_000013.11:g.32770260C>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu1258Gln	rs1226632444	missense variant	-	NC_000013.11:g.32770268G>C	gnomAD
PDS5B	Q9NTI5	p.Glu1258Val	rs1306232078	missense variant	-	NC_000013.11:g.32770269A>T	gnomAD
PDS5B	Q9NTI5	p.Gln1263Arg	rs777677873	missense variant	-	NC_000013.11:g.32770284A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro1265Arg	rs1238903449	missense variant	-	NC_000013.11:g.32770290C>G	TOPMed
PDS5B	Q9NTI5	p.Pro1265Ala	rs746860880	missense variant	-	NC_000013.11:g.32770289C>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu1266Gly	rs1220846731	missense variant	-	NC_000013.11:g.32770293A>G	TOPMed
PDS5B	Q9NTI5	p.Glu1267Asp	rs770904223	missense variant	-	NC_000013.11:g.32770297A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1268Asn	rs1257038994	missense variant	-	NC_000013.11:g.32770300G>C	gnomAD
PDS5B	Q9NTI5	p.Lys1268ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32770296A>-	NCI-TCGA
PDS5B	Q9NTI5	p.Arg1269Ser	rs1183622924	missense variant	-	NC_000013.11:g.32770303G>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Leu1270Pro	rs201437175	missense variant	-	NC_000013.11:g.32770305T>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ile1274Thr	rs749400858	missense variant	-	NC_000013.11:g.32770317T>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile1274Met	rs201083990	missense variant	-	NC_000013.11:g.32770318A>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu1278Asp	rs1375650856	missense variant	-	NC_000013.11:g.32770330A>C	gnomAD
PDS5B	Q9NTI5	p.Glu1278Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.32770328G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Asn1282Lys	rs1482408513	missense variant	-	NC_000013.11:g.32770342T>A	gnomAD
PDS5B	Q9NTI5	p.Pro1284Leu	rs1308227017	missense variant	-	NC_000013.11:g.32770347C>T	TOPMed
PDS5B	Q9NTI5	p.Lys1286Arg	rs1428394234	missense variant	-	NC_000013.11:g.32770353A>G	gnomAD
PDS5B	Q9NTI5	p.Lys1286Glu	rs773633929	missense variant	-	NC_000013.11:g.32770352A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1287ArgPheSerTerUnkUnk	COSM1366531	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.32770351A>-	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Lys1287Arg	rs761049443	missense variant	-	NC_000013.11:g.32770356A>G	ExAC,TOPMed
PDS5B	Q9NTI5	p.Gly1288Val	COSM946939	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770359G>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Gly1288Ala	rs1378602430	missense variant	-	NC_000013.11:g.32770359G>C	TOPMed
PDS5B	Q9NTI5	p.Gly1288Ser	rs1382217170	missense variant	-	NC_000013.11:g.32770358G>A	gnomAD
PDS5B	Q9NTI5	p.Arg1292Ter	rs1167318210	stop gained	-	NC_000013.11:g.32770370C>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1292Gln	rs1344806616	missense variant	-	NC_000013.11:g.32770371G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1292Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32770371G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Pro1293Leu	rs1279908325	missense variant	-	NC_000013.11:g.32770374C>T	gnomAD
PDS5B	Q9NTI5	p.Pro1293Thr	rs374924837	missense variant	-	NC_000013.11:g.32770373C>A	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro1294Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32770377C>G	NCI-TCGA
PDS5B	Q9NTI5	p.Leu1297Phe	COSM3468438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770385C>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Leu1297Val	COSM1322905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770385C>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Leu1297Ile	rs761064408	missense variant	-	NC_000013.11:g.32770385C>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gly1299Arg	rs1240371272	missense variant	-	NC_000013.11:g.32770391G>A	gnomAD
PDS5B	Q9NTI5	p.Gly1299Glu	rs553065859	missense variant	-	NC_000013.11:g.32770392G>A	1000Genomes
PDS5B	Q9NTI5	p.Gly1300Ser	rs752330884	missense variant	-	NC_000013.11:g.32770394G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro1302Ser	rs777362873	missense variant	-	NC_000013.11:g.32770400C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1303Glu	rs746851429	missense variant	-	NC_000013.11:g.32770403A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Lys1303Arg	rs757093013	missense variant	-	NC_000013.11:g.32770404A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu1304Ala	rs781167583	missense variant	-	NC_000013.11:g.32770407A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Met1308Thr	rs1156483306	missense variant	-	NC_000013.11:g.32770419T>C	gnomAD
PDS5B	Q9NTI5	p.Ser1311Tyr	COSM946940	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770428C>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Gly1314Arg	rs990938133	missense variant	-	NC_000013.11:g.32770436G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gly1314Arg	rs990938133	missense variant	-	NC_000013.11:g.32770436G>C	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gly1314Glu	rs1367914641	missense variant	-	NC_000013.11:g.32770437G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gly1314GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32770430A>-	NCI-TCGA
PDS5B	Q9NTI5	p.Ser1315Arg	rs1344020075	missense variant	-	NC_000013.11:g.32770441C>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1315Asn	rs1439200172	missense variant	-	NC_000013.11:g.32770440G>A	gnomAD
PDS5B	Q9NTI5	p.Ser1315Arg	rs1190821223	missense variant	-	NC_000013.11:g.32770439A>C	TOPMed
PDS5B	Q9NTI5	p.Ser1315Arg	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32770441C>G	NCI-TCGA
PDS5B	Q9NTI5	p.Lys1317Gln	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32770445A>C	NCI-TCGA
PDS5B	Q9NTI5	p.Lys1318AsnPheSerTerUnkUnk	rs747131399	frameshift	-	NC_000013.11:g.32770442A>-	NCI-TCGA,NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ser1319Pro	rs1024111945	missense variant	-	NC_000013.11:g.32770451T>C	TOPMed
PDS5B	Q9NTI5	p.Pro1321Leu	rs772372189	missense variant	-	NC_000013.11:g.32770458C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro1322Thr	rs1490478267	missense variant	-	NC_000013.11:g.32770460C>A	TOPMed
PDS5B	Q9NTI5	p.Pro1322Leu	rs369239313	missense variant	-	NC_000013.11:g.32770461C>T	ESP,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala1323Ser	COSM696706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770463G>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ala1323Val	rs1316449459	missense variant	-	NC_000013.11:g.32770464C>T	gnomAD
PDS5B	Q9NTI5	p.Pro1324Leu	rs761081588	missense variant	-	NC_000013.11:g.32770467C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro1324Ala	rs773402726	missense variant	-	NC_000013.11:g.32770466C>G	ExAC
PDS5B	Q9NTI5	p.Glu1325Ter	NCI-TCGA novel	stop gained	-	NC_000013.11:g.32770469G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Glu1331Gly	rs1269961946	missense variant	-	NC_000013.11:g.32770488A>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Gln1333Arg	rs766697845	missense variant	-	NC_000013.11:g.32770494A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asn1336Ser	rs760089686	missense variant	-	NC_000013.11:g.32770503A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr1337Met	rs201933867	missense variant	-	NC_000013.11:g.32770506C>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1337Arg	rs201933867	missense variant	-	NC_000013.11:g.32770506C>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu1338Asp	rs1175667573	missense variant	-	NC_000013.11:g.32770510A>C	TOPMed
PDS5B	Q9NTI5	p.Gln1339Pro	rs763828445	missense variant	-	NC_000013.11:g.32770512A>C	ExAC
PDS5B	Q9NTI5	p.Lys1342Gln	rs1406762391	missense variant	-	NC_000013.11:g.32770520A>C	gnomAD
PDS5B	Q9NTI5	p.Ser1343Arg	rs1160689981	missense variant	-	NC_000013.11:g.32770525C>G	gnomAD
PDS5B	Q9NTI5	p.Ser1343Asn	rs1400806564	missense variant	-	NC_000013.11:g.32770524G>A	gnomAD
PDS5B	Q9NTI5	p.Gln1345Ter	rs751219011	stop gained	-	NC_000013.11:g.32770529C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.His1346Arg	rs1460283748	missense variant	-	NC_000013.11:g.32770533A>G	gnomAD
PDS5B	Q9NTI5	p.Val1348Ala	rs1200187212	missense variant	-	NC_000013.11:g.32770539T>C	TOPMed
PDS5B	Q9NTI5	p.Arg1350Lys	rs1395761266	missense variant	-	NC_000013.11:g.32770545G>A	gnomAD
PDS5B	Q9NTI5	p.Gln1354His	rs1480726563	missense variant	-	NC_000013.11:g.32770558G>T	TOPMed
PDS5B	Q9NTI5	p.Arg1355Ile	COSM4047126	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770560G>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Glu1357Gln	rs1232728650	missense variant	-	NC_000013.11:g.32770658G>C	gnomAD
PDS5B	Q9NTI5	p.Ser1358Phe	rs1358332192	missense variant	-	NC_000013.11:g.32770662C>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu1360Val	rs185345116	missense variant	-	NC_000013.11:g.32770668A>T	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1361Cys	rs1482077819	missense variant	-	NC_000013.11:g.32770671C>G	TOPMed
PDS5B	Q9NTI5	p.Ser1361Tyr	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32770671C>A	NCI-TCGA
PDS5B	Q9NTI5	p.Ser1362Arg	rs1271950551	missense variant	-	NC_000013.11:g.32770673A>C	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1362Asn	rs756069537	missense variant	-	NC_000013.11:g.32770674G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile1364Asn	rs753762563	missense variant	-	NC_000013.11:g.32770680T>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ile1364Val	rs759978437	missense variant	-	NC_000013.11:g.32770679A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ile1364Thr	rs753762563	missense variant	-	NC_000013.11:g.32770680T>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu1365Lys	rs1485084659	missense variant	-	NC_000013.11:g.32770682G>A	gnomAD
PDS5B	Q9NTI5	p.Thr1367Ile	rs1369578116	missense variant	-	NC_000013.11:g.32770689C>T	gnomAD
PDS5B	Q9NTI5	p.Gln1368Leu	COSM6074223	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770692A>T	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Ser1369Cys	rs747193314	missense variant	-	NC_000013.11:g.32770695C>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1370Ala	rs1419337303	missense variant	-	NC_000013.11:g.32770697A>G	gnomAD
PDS5B	Q9NTI5	p.Gly1374Arg	rs1170774368	missense variant	-	NC_000013.11:g.32770709G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1375Ter	rs921699617	stop gained	-	NC_000013.11:g.32770712C>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1375Gln	rs746251315	missense variant	-	NC_000013.11:g.32770713G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Arg1375Pro	rs746251315	missense variant	-	NC_000013.11:g.32770713G>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Gly1376Glu	rs1334842482	missense variant	-	NC_000013.11:g.32770716G>A	gnomAD
PDS5B	Q9NTI5	p.Pro1378Thr	rs763437464	missense variant	-	NC_000013.11:g.32770721C>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro1378Ala	rs763437464	missense variant	-	NC_000013.11:g.32770721C>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr1381Ala	rs768156047	missense variant	-	NC_000013.11:g.32770730A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Thr1381Arg	rs930374554	missense variant	-	NC_000013.11:g.32770731C>G	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1381Met	rs930374554	missense variant	-	NC_000013.11:g.32770731C>T	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1381ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32770726A>-	NCI-TCGA
PDS5B	Q9NTI5	p.Pro1382Ser	rs371234286	missense variant	-	NC_000013.11:g.32770733C>T	ESP,gnomAD
PDS5B	Q9NTI5	p.Pro1384Ser	rs761488170	missense variant	-	NC_000013.11:g.32770739C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Pro1384Leu	rs767302793	missense variant	-	NC_000013.11:g.32770740C>T	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser1385Thr	rs1257732692	missense variant	-	NC_000013.11:g.32770742T>A	gnomAD
PDS5B	Q9NTI5	p.Ser1385Ter	rs1444778390	stop gained	-	NC_000013.11:g.32770743C>A	gnomAD
PDS5B	Q9NTI5	p.Gln1386Lys	rs1191720947	missense variant	-	NC_000013.11:g.32770745C>A	gnomAD
PDS5B	Q9NTI5	p.Pro1387Thr	rs1242027993	missense variant	-	NC_000013.11:g.32770748C>A	gnomAD
PDS5B	Q9NTI5	p.Pro1387Gln	rs1270125766	missense variant	-	NC_000013.11:g.32770749C>A	gnomAD
PDS5B	Q9NTI5	p.Lys1389Gln	COSM946942	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32770754A>C	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Asn1390MetPheSerTerUnk	rs759495724	frameshift	-	NC_000013.11:g.32770750A>-	NCI-TCGA,NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Asn1390CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000013.11:g.32770750_32770751AA>-	NCI-TCGA
PDS5B	Q9NTI5	p.Val1391Ile	rs561693185	missense variant	-	NC_000013.11:g.32770760G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val1391Leu	rs561693185	missense variant	-	NC_000013.11:g.32770760G>C	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1392His	rs747642036	missense variant	-	NC_000013.11:g.32773191G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1392Leu	rs747642036	missense variant	-	NC_000013.11:g.32773191G>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1392Cys	rs773864974	missense variant	-	NC_000013.11:g.32773190C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val1393Ile	COSM4047127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32773193G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg1395His	rs971487037	missense variant	-	NC_000013.11:g.32773200G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1395Cys	rs367640322	missense variant	-	NC_000013.11:g.32773199C>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1395Gly	rs367640322	missense variant	-	NC_000013.11:g.32773199C>G	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys1397Arg	rs1302989255	missense variant	-	NC_000013.11:g.32773206A>G	gnomAD
PDS5B	Q9NTI5	p.Gln1398Glu	rs1174860698	missense variant	-	NC_000013.11:g.32773208C>G	TOPMed
PDS5B	Q9NTI5	p.Gln1398Arg	rs760458324	missense variant	-	NC_000013.11:g.32773209A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ala1399Val	rs776298861	missense variant	-	NC_000013.11:g.32773212C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala1399Thr	rs201371030	missense variant	-	NC_000013.11:g.32773211G>A	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala1399Gly	rs776298861	missense variant	-	NC_000013.11:g.32773212C>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ala1400Val	rs1211192809	missense variant	-	NC_000013.11:g.32773215C>T	gnomAD
PDS5B	Q9NTI5	p.Ala1400Ser	rs1330590546	missense variant	-	NC_000013.11:g.32773214G>T	gnomAD
PDS5B	Q9NTI5	p.Thr1401Ala	rs187902200	missense variant	-	NC_000013.11:g.32773217A>G	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1401Pro	rs187902200	missense variant	-	NC_000013.11:g.32773217A>C	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Thr1401Asn	rs1210756360	missense variant	-	NC_000013.11:g.32773218C>A	gnomAD
PDS5B	Q9NTI5	p.Lys1402Glu	rs1426892583	missense variant	-	NC_000013.11:g.32773220A>G	TOPMed
PDS5B	Q9NTI5	p.Lys1402Thr	rs757297869	missense variant	-	NC_000013.11:g.32773221A>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Lys1402Arg	rs757297869	missense variant	-	NC_000013.11:g.32773221A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Asn1404Ser	COSM1287063	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32773227A>G	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Asn1404Asp	rs750631273	missense variant	-	NC_000013.11:g.32773226A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp1405Gly	rs927289633	missense variant	-	NC_000013.11:g.32773230A>G	TOPMed
PDS5B	Q9NTI5	p.Ser1406Thr	rs756333625	missense variant	-	NC_000013.11:g.32773232T>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser1407Asn	rs749635896	missense variant	-	NC_000013.11:g.32773236G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Ser1407Arg	rs764626449	missense variant	-	NC_000013.11:g.32773235A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Glu1408Lys	rs1295006162	missense variant	-	NC_000013.11:g.32773238G>A	gnomAD
PDS5B	Q9NTI5	p.Val1410Gly	rs755417524	missense variant	-	NC_000013.11:g.32773245T>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val1410Ala	rs755417524	missense variant	-	NC_000013.11:g.32773245T>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Val1412Ala	rs370523086	missense variant	-	NC_000013.11:g.32773251T>C	ESP,ExAC,gnomAD
PDS5B	Q9NTI5	p.Gly1415Asp	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32773260G>A	NCI-TCGA
PDS5B	Q9NTI5	p.Ser1416Ile	rs1351838030	missense variant	-	NC_000013.11:g.32773263G>T	gnomAD
PDS5B	Q9NTI5	p.Ser1416Thr	rs1351838030	missense variant	-	NC_000013.11:g.32773263G>C	gnomAD
PDS5B	Q9NTI5	p.Ser1417Pro	rs1198639563	missense variant	-	NC_000013.11:g.32773265T>C	TOPMed
PDS5B	Q9NTI5	p.Pro1418Ser	rs1291998716	missense variant	-	NC_000013.11:g.32773268C>T	gnomAD
PDS5B	Q9NTI5	p.Asp1420Asn	rs770523903	missense variant	-	NC_000013.11:g.32773274G>A	ExAC,gnomAD
PDS5B	Q9NTI5	p.Asp1421Gly	rs760182183	missense variant	-	NC_000013.11:g.32773278A>G	TOPMed
PDS5B	Q9NTI5	p.Ile1422Thr	rs1435234749	missense variant	-	NC_000013.11:g.32773281T>C	TOPMed
PDS5B	Q9NTI5	p.Ile1422Val	rs776440255	missense variant	-	NC_000013.11:g.32773280A>G	ExAC,gnomAD
PDS5B	Q9NTI5	p.Pro1423Ser	rs1337838744	missense variant	-	NC_000013.11:g.32773283C>T	gnomAD
PDS5B	Q9NTI5	p.Pro1423Leu	rs1381370787	missense variant	-	NC_000013.11:g.32773284C>T	TOPMed
PDS5B	Q9NTI5	p.Thr1427Ala	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32773295A>G	NCI-TCGA
PDS5B	Q9NTI5	p.Glu1431Asp	rs775286541	missense variant	-	NC_000013.11:g.32773309A>C	ExAC,gnomAD
PDS5B	Q9NTI5	p.Ser1433Tyr	COSM946943	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32773314C>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Thr1434Ala	rs762936755	missense variant	-	NC_000013.11:g.32773316A>G	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Val1435Ile	rs538257707	missense variant	-	NC_000013.11:g.32773319G>A	1000Genomes,ExAC,gnomAD
PDS5B	Q9NTI5	p.Val1435Leu	NCI-TCGA novel	missense variant	-	NC_000013.11:g.32773319G>T	NCI-TCGA
PDS5B	Q9NTI5	p.Val1437Ile	rs1467113364	missense variant	-	NC_000013.11:g.32775017G>A	TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1438Trp	rs748672554	missense variant	-	NC_000013.11:g.32775020C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1438Pro	rs762836394	missense variant	-	NC_000013.11:g.32775021G>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1438Gln	rs762836394	missense variant	-	NC_000013.11:g.32775021G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1439Pro	rs776207788	missense variant	-	NC_000013.11:g.32775024G>C	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1439Trp	rs200436799	missense variant	-	NC_000013.11:g.32775023C>T	1000Genomes,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1439Leu	rs776207788	missense variant	-	NC_000013.11:g.32775024G>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1439Gln	rs776207788	missense variant	-	NC_000013.11:g.32775024G>A	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1440Gln	COSM946944	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.32775027G>A	NCI-TCGA Cosmic
PDS5B	Q9NTI5	p.Arg1440Ter	rs371713456	stop gained	-	NC_000013.11:g.32775026C>T	ESP,ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Glu1445Lys	rs1369771501	missense variant	-	NC_000013.11:g.32775041G>A	gnomAD
PDS5B	Q9NTI5	p.Arg1446Trp	rs765458027	missense variant	-	NC_000013.11:g.32775044C>T	ExAC,TOPMed,gnomAD
PDS5B	Q9NTI5	p.Arg1446Gln	rs1212268137	missense variant	-	NC_000013.11:g.32775045G>A	gnomAD
PDS5B	Q9NTI5	p.Arg1447Gln	rs1207465727	missense variant	-	NC_000013.11:g.32775048G>A	TOPMed
PDS5B	Q9NTI5	p.Arg1447Ter	rs199518025	stop gained	-	NC_000013.11:g.32775047C>T	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Trp2Ser	RCV000726906	missense variant	-	NC_000001.11:g.26790820G>C	ClinVar
PIGV	Q9NUD9	p.Trp2Arg	rs746851628	missense variant	-	NC_000001.11:g.26790819T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Trp2Ser	rs768302053	missense variant	-	NC_000001.11:g.26790820G>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln4Pro	rs374162679	missense variant	-	NC_000001.11:g.26790826A>C	ESP,ExAC,gnomAD
PIGV	Q9NUD9	p.Asp5Glu	rs1304154319	missense variant	-	NC_000001.11:g.26790830C>A	TOPMed
PIGV	Q9NUD9	p.Asp5Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26790828G>A	NCI-TCGA
PIGV	Q9NUD9	p.Ser7Phe	rs1321002098	missense variant	-	NC_000001.11:g.26790835C>T	gnomAD
PIGV	Q9NUD9	p.Arg8Gln	rs368673102	missense variant	-	NC_000001.11:g.26790838G>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg8Trp	rs769363441	missense variant	-	NC_000001.11:g.26790837C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg8Leu	rs368673102	missense variant	-	NC_000001.11:g.26790838G>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys9Glu	rs1300582712	missense variant	-	NC_000001.11:g.26790840A>G	gnomAD
PIGV	Q9NUD9	p.Leu12Pro	rs1224980639	missense variant	-	NC_000001.11:g.26790850T>C	TOPMed
PIGV	Q9NUD9	p.Arg13Trp	rs1234068522	missense variant	-	NC_000001.11:g.26790852A>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg13Gly	rs1234068522	missense variant	-	NC_000001.11:g.26790852A>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg13Lys	rs1265044679	missense variant	-	NC_000001.11:g.26790853G>A	gnomAD
PIGV	Q9NUD9	p.Phe14Leu	rs1029026239	missense variant	-	NC_000001.11:g.26790855T>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Val16Ala	rs1248849575	missense variant	-	NC_000001.11:g.26790862T>C	gnomAD
PIGV	Q9NUD9	p.Ser17Thr	rs773837990	missense variant	-	NC_000001.11:g.26790865G>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg19Cys	rs759988046	missense variant	-	NC_000001.11:g.26790870C>T	ExAC,TOPMed
PIGV	Q9NUD9	p.Arg19His	rs767977785	missense variant	-	NC_000001.11:g.26790871G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg19His	rs767977785	missense variant	-	NC_000001.11:g.26790871G>A	NCI-TCGA
PIGV	Q9NUD9	p.Arg19Cys	RCV000660523	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26790870C>T	ClinVar
PIGV	Q9NUD9	p.Gln26His	rs764634467	missense variant	-	NC_000001.11:g.26790893G>T	ExAC
PIGV	Q9NUD9	p.Ala27Gly	rs776006610	missense variant	-	NC_000001.11:g.26794114C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu28Phe	rs976215465	missense variant	-	NC_000001.11:g.26794116C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe29Leu	rs764728447	missense variant	-	NC_000001.11:g.26794121C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile32Val	RCV000429430	missense variant	-	NC_000001.11:g.26794128A>G	ClinVar
PIGV	Q9NUD9	p.Ile32Val	rs147565152	missense variant	-	NC_000001.11:g.26794128A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro34Leu	rs139246652	missense variant	-	NC_000001.11:g.26794135C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro34Leu	RCV000327702	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794135C>T	ClinVar
PIGV	Q9NUD9	p.Pro34Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794134C>T	NCI-TCGA
PIGV	Q9NUD9	p.Asp35Gly	rs765217723	missense variant	-	NC_000001.11:g.26794138A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His37Gln	rs1057523852	missense variant	-	NC_000001.11:g.26794145T>G	TOPMed
PIGV	Q9NUD9	p.Ala38Thr	rs1225710259	missense variant	-	NC_000001.11:g.26794146G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Glu39Lys	rs369275802	missense variant	-	NC_000001.11:g.26794149G>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Glu39Asp	COSM4031032	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794151A>C	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Glu39Lys	RCV000765106	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794149G>A	ClinVar
PIGV	Q9NUD9	p.Glu39Lys	RCV000521292	missense variant	-	NC_000001.11:g.26794149G>A	ClinVar
PIGV	Q9NUD9	p.Phe41Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794157C>A	NCI-TCGA
PIGV	Q9NUD9	p.Ser42Cys	rs576197715	missense variant	-	NC_000001.11:g.26794159C>G	1000Genomes,ExAC,gnomAD
PIGV	Q9NUD9	p.Ser42Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794159C>A	NCI-TCGA
PIGV	Q9NUD9	p.Pro44Leu	rs766531574	missense variant	-	NC_000001.11:g.26794165C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg45His	rs148135928	missense variant	-	NC_000001.11:g.26794168G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg45Cys	rs752514953	missense variant	-	NC_000001.11:g.26794167C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg45Cys	RCV000478841	missense variant	-	NC_000001.11:g.26794167C>T	ClinVar
PIGV	Q9NUD9	p.Arg45His	RCV000726136	missense variant	-	NC_000001.11:g.26794168G>A	ClinVar
PIGV	Q9NUD9	p.Arg45His	RCV000768044	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794168G>A	ClinVar
PIGV	Q9NUD9	p.Ser49Ter	rs145160045	stop gained	-	NC_000001.11:g.26794180C>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly50Ala	rs927191319	missense variant	-	NC_000001.11:g.26794183G>C	TOPMed
PIGV	Q9NUD9	p.Gly50Cys	rs756855102	missense variant	-	NC_000001.11:g.26794182G>T	ExAC
PIGV	Q9NUD9	p.Asp53Gly	rs771869741	missense variant	-	NC_000001.11:g.26794192A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu55Val	rs779812457	missense variant	-	NC_000001.11:g.26794197C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Val56Met	rs1471512677	missense variant	-	NC_000001.11:g.26794200G>A	gnomAD
PIGV	Q9NUD9	p.Leu59Arg	rs142252055	missense variant	-	NC_000001.11:g.26794210T>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly62Ser	rs777251503	missense variant	-	NC_000001.11:g.26794218G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly62Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794219G>A	NCI-TCGA
PIGV	Q9NUD9	p.Leu63Pro	rs1353765826	missense variant	-	NC_000001.11:g.26794222T>C	TOPMed
PIGV	Q9NUD9	p.Ser64Pro	rs762224266	missense variant	-	NC_000001.11:g.26794224T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Trp66Ter	rs1430286706	stop gained	-	NC_000001.11:g.26794231G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Trp66Ter	rs534283082	stop gained	-	NC_000001.11:g.26794232G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp67Asn	rs773179141	missense variant	-	NC_000001.11:g.26794233G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His70Pro	rs975703223	missense variant	-	NC_000001.11:g.26794243A>C	gnomAD
PIGV	Q9NUD9	p.His70Tyr	COSM907767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794242C>T	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Phe71Leu	rs1283891602	missense variant	-	NC_000001.11:g.26794247C>A	gnomAD
PIGV	Q9NUD9	p.Leu72Ser	rs762971798	missense variant	-	NC_000001.11:g.26794249T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu72Phe	rs766623579	missense variant	-	NC_000001.11:g.26794250G>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Ala75Thr	rs760514806	missense variant	-	NC_000001.11:g.26794257G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Glu76Asp	rs1229853041	missense variant	-	NC_000001.11:g.26794262G>T	gnomAD
PIGV	Q9NUD9	p.Tyr81Ter	rs757152471	stop gained	-	NC_000001.11:g.26794277T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Glu82Lys	rs1462326347	missense variant	-	NC_000001.11:g.26794278G>A	gnomAD
PIGV	Q9NUD9	p.His83Arg	rs1186478881	missense variant	-	NC_000001.11:g.26794282A>G	gnomAD
PIGV	Q9NUD9	p.Asn84Ser	rs1389268067	missense variant	-	NC_000001.11:g.26794285A>G	gnomAD
PIGV	Q9NUD9	p.Ala86Ser	rs778857841	missense variant	-	NC_000001.11:g.26794290G>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Phe88Ser	rs779902346	missense variant	-	NC_000001.11:g.26794297T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Phe88Val	COSM1341438	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794296T>G	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Gly90Ser	rs201121029	missense variant	-	NC_000001.11:g.26794302G>A	1000Genomes,ExAC
PIGV	Q9NUD9	p.Phe91Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794306T>G	NCI-TCGA
PIGV	Q9NUD9	p.Phe91Leu	rs778182206	missense variant	-	NC_000001.11:g.26794305T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro92Ser	rs1407113835	missense variant	-	NC_000001.11:g.26794308C>T	gnomAD
PIGV	Q9NUD9	p.Pro92Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794309C>T	NCI-TCGA
PIGV	Q9NUD9	p.Leu93Ser	rs748489022	missense variant	-	NC_000001.11:g.26794312T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu93Val	rs751810774	missense variant	-	NC_000001.11:g.26794311T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Ala94Val	rs1364980125	missense variant	-	NC_000001.11:g.26794315C>T	gnomAD
PIGV	Q9NUD9	p.Ala94Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794314G>A	NCI-TCGA
PIGV	Q9NUD9	p.Leu96Pro	rs1056953594	missense variant	-	NC_000001.11:g.26794321T>C	TOPMed
PIGV	Q9NUD9	p.Gly98Glu	rs770225432	missense variant	-	NC_000001.11:g.26794327G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr99Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794330C>T	NCI-TCGA
PIGV	Q9NUD9	p.Arg103Lys	rs1343420879	missense variant	-	NC_000001.11:g.26794342G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu105Ser	rs946759435	missense variant	-	NC_000001.11:g.26794348T>C	TOPMed
PIGV	Q9NUD9	p.Arg106Gln	rs180892038	missense variant	-	NC_000001.11:g.26794351G>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg106Trp	rs372631555	missense variant	-	NC_000001.11:g.26794350C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly107Arg	rs774616798	missense variant	-	NC_000001.11:g.26794353G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Gly107Trp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794353G>T	NCI-TCGA
PIGV	Q9NUD9	p.Gly107Val	rs1195044511	missense variant	-	NC_000001.11:g.26794354G>T	gnomAD
PIGV	Q9NUD9	p.Ser110Thr	rs1477617208	missense variant	-	NC_000001.11:g.26794363G>C	gnomAD
PIGV	Q9NUD9	p.Arg112Cys	rs1172094159	missense variant	-	NC_000001.11:g.26794368C>T	gnomAD
PIGV	Q9NUD9	p.Arg112His	rs757137280	missense variant	-	NC_000001.11:g.26794369G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.LeuIle116LeuVal	rs886044116	missense variant	-	NC_000001.11:g.26794382_26794383delinsAG	-
PIGV	Q9NUD9	p.Leu116Pro	rs765126006	missense variant	-	NC_000001.11:g.26794381T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Ile117Val	rs142192097	missense variant	-	NC_000001.11:g.26794383A>G	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile117Val	RCV000313858	missense variant	-	NC_000001.11:g.26794382_26794383delinsAG	ClinVar
PIGV	Q9NUD9	p.Ile117Val	RCV000726297	missense variant	-	NC_000001.11:g.26794382_26794383delinsAG	ClinVar
PIGV	Q9NUD9	p.Ile117Val	RCV000765107	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794382_26794383delinsAG	ClinVar
PIGV	Q9NUD9	p.Ile117Val	RCV000514626	missense variant	-	NC_000001.11:g.26794383A>G	ClinVar
PIGV	Q9NUD9	p.Ile117Val	RCV000455981	missense variant	-	NC_000001.11:g.26794383A>G	ClinVar
PIGV	Q9NUD9	p.Ile117Val	RCV000286962	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794383A>G	ClinVar
PIGV	Q9NUD9	p.Ser118Leu	rs1320617918	missense variant	-	NC_000001.11:g.26794387C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Val119Leu	rs1436327969	missense variant	-	NC_000001.11:g.26794389G>T	gnomAD
PIGV	Q9NUD9	p.Asn123Ser	rs1267164610	missense variant	-	NC_000001.11:g.26794402A>G	gnomAD
PIGV	Q9NUD9	p.Leu125Val	COSM907768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794407T>G	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Leu125Phe	rs780850497	missense variant	-	NC_000001.11:g.26794409G>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Phe127Leu	rs369959763	missense variant	-	NC_000001.11:g.26794413T>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe127Ser	rs1450982775	missense variant	-	NC_000001.11:g.26794414T>C	gnomAD
PIGV	Q9NUD9	p.Met128Ile	rs756473629	missense variant	-	NC_000001.11:g.26794418G>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Met128Val	rs1199547027	missense variant	-	NC_000001.11:g.26794416A>G	gnomAD
PIGV	Q9NUD9	p.Ala131Glu	rs1411515628	missense variant	-	NC_000001.11:g.26794426C>A	gnomAD
PIGV	Q9NUD9	p.Ala133Val	rs1454467423	missense variant	-	NC_000001.11:g.26794432C>T	gnomAD
PIGV	Q9NUD9	p.Leu134Phe	rs1160677041	missense variant	-	NC_000001.11:g.26794434C>T	gnomAD
PIGV	Q9NUD9	p.His135Leu	rs1268654036	missense variant	-	NC_000001.11:g.26794438A>T	TOPMed
PIGV	Q9NUD9	p.His135Tyr	rs1389087489	missense variant	-	NC_000001.11:g.26794437C>T	gnomAD
PIGV	Q9NUD9	p.Asp136Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794440G>T	NCI-TCGA
PIGV	Q9NUD9	p.His143Arg	rs371892825	missense variant	-	NC_000001.11:g.26794462A>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Cys144Arg	rs1299832481	missense variant	-	NC_000001.11:g.26794464T>C	gnomAD
PIGV	Q9NUD9	p.His146Gln	rs1287083616	missense variant	-	NC_000001.11:g.26794472C>A	gnomAD
PIGV	Q9NUD9	p.His146Tyr	rs745894226	missense variant	-	NC_000001.11:g.26794470C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Gln147Glu	rs185641230	missense variant	-	NC_000001.11:g.26794473C>G	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln147Ter	rs185641230	stop gained	-	NC_000001.11:g.26794473C>T	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln147Arg	rs1346310440	missense variant	-	NC_000001.11:g.26794474A>G	TOPMed
PIGV	Q9NUD9	p.Phe149Ser	rs1210864247	missense variant	-	NC_000001.11:g.26794480T>C	TOPMed
PIGV	Q9NUD9	p.Tyr150Asn	rs761560339	missense variant	-	NC_000001.11:g.26794482T>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ala151Gly	rs1057524351	missense variant	-	NC_000001.11:g.26794486C>G	-
PIGV	Q9NUD9	p.Ala151Gly	RCV000437697	missense variant	-	NC_000001.11:g.26794486C>G	ClinVar
PIGV	Q9NUD9	p.Ala152Asp	rs773349099	missense variant	-	NC_000001.11:g.26794489C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu154Val	rs766362407	missense variant	-	NC_000001.11:g.26794494C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Cys156Tyr	RCV000413902	missense variant	-	NC_000001.11:g.26794501G>A	ClinVar
PIGV	Q9NUD9	p.Cys156Tyr	rs387907023	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26794501G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser158Asn	rs201332799	missense variant	-	NC_000001.11:g.26794507G>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn161Ser	rs767117669	missense variant	-	NC_000001.11:g.26794516A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala165Glu	RCV000122740	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794528C>A	ClinVar
PIGV	Q9NUD9	p.Ala165Glu	rs376328153	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26794528C>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly167Ser	rs756498571	missense variant	-	NC_000001.11:g.26794533G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Tyr168Ter	rs778110820	stop gained	-	NC_000001.11:g.26794538C>G	ExAC
PIGV	Q9NUD9	p.Ser169Leu	rs1472708398	missense variant	-	NC_000001.11:g.26794540C>T	gnomAD
PIGV	Q9NUD9	p.Glu170Lys	rs749593521	missense variant	-	NC_000001.11:g.26794542G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala171Thr	rs1368007368	missense variant	-	NC_000001.11:g.26794545G>A	gnomAD
PIGV	Q9NUD9	p.Leu172Phe	rs757780191	missense variant	-	NC_000001.11:g.26794550G>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala174Asp	rs1248828096	missense variant	-	NC_000001.11:g.26794555C>A	gnomAD
PIGV	Q9NUD9	p.Leu175Phe	rs745984839	missense variant	-	NC_000001.11:g.26794557C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser179Ile	rs1441977431	missense variant	-	NC_000001.11:g.26794570G>T	TOPMed
PIGV	Q9NUD9	p.Ala180Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794573C>T	NCI-TCGA
PIGV	Q9NUD9	p.Ala180Gly	rs1331861478	missense variant	-	NC_000001.11:g.26794573C>G	gnomAD
PIGV	Q9NUD9	p.Met181Thr	rs772167728	missense variant	-	NC_000001.11:g.26794576T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Met181Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794577G>C	NCI-TCGA
PIGV	Q9NUD9	p.Met181Val	rs1339455825	missense variant	-	NC_000001.11:g.26794575A>G	gnomAD
PIGV	Q9NUD9	p.Gly182Glu	rs775630257	missense variant	-	NC_000001.11:g.26794579G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Glu185Gln	rs1306060571	missense variant	-	NC_000001.11:g.26794587G>C	TOPMed
PIGV	Q9NUD9	p.Arg186Thr	rs1340002703	missense variant	-	NC_000001.11:g.26794591G>C	gnomAD
PIGV	Q9NUD9	p.Arg188Gln	rs368069947	missense variant	-	NC_000001.11:g.26794597G>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg188Ter	rs1369324588	stop gained	-	NC_000001.11:g.26794596C>T	TOPMed
PIGV	Q9NUD9	p.Val189Ala	rs968410236	missense variant	-	NC_000001.11:g.26794600T>C	TOPMed
PIGV	Q9NUD9	p.Val189Ile	rs1251786702	missense variant	-	NC_000001.11:g.26794599G>A	gnomAD
PIGV	Q9NUD9	p.Trp190Ter	rs202211728	stop gained	-	NC_000001.11:g.26794603G>A	1000Genomes,ExAC,gnomAD
PIGV	Q9NUD9	p.Thr191Ser	rs773156094	missense variant	-	NC_000001.11:g.26794606C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Val193Ile	rs1460987621	missense variant	-	NC_000001.11:g.26794611G>A	gnomAD
PIGV	Q9NUD9	p.Leu194Phe	rs979756603	missense variant	-	NC_000001.11:g.26794614C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala199Ser	rs1387412495	missense variant	-	NC_000001.11:g.26794629G>T	gnomAD
PIGV	Q9NUD9	p.Gly201Glu	rs1453594216	missense variant	-	NC_000001.11:g.26794636G>A	TOPMed
PIGV	Q9NUD9	p.Val202Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794639T>C	NCI-TCGA
PIGV	Q9NUD9	p.Arg203Cys	rs149690056	missense variant	-	NC_000001.11:g.26794641C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg203Leu	rs1168553787	missense variant	-	NC_000001.11:g.26794642G>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg203His	rs1168553787	missense variant	-	NC_000001.11:g.26794642G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn205Lys	rs34512715	missense variant	-	NC_000001.11:g.26794649C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn205Ser	rs766452597	missense variant	-	NC_000001.11:g.26794648A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn205Ser	RCV000482776	missense variant	-	NC_000001.11:g.26794648A>G	ClinVar
PIGV	Q9NUD9	p.Asn205Lys	RCV000591654	missense variant	-	NC_000001.11:g.26794649C>G	ClinVar
PIGV	Q9NUD9	p.Gly206Arg	rs759021332	missense variant	-	NC_000001.11:g.26794650G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Val208Ile	rs760382543	missense variant	-	NC_000001.11:g.26794656G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ser209Thr	rs1434086651	missense variant	-	NC_000001.11:g.26794660G>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly211Val	rs1296279337	missense variant	-	NC_000001.11:g.26794666G>T	gnomAD
PIGV	Q9NUD9	p.Leu213Pro	rs146852030	missense variant	-	NC_000001.11:g.26794672T>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu213Val	rs763683136	missense variant	-	NC_000001.11:g.26794671C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu213Pro	RCV000442084	missense variant	-	NC_000001.11:g.26794672T>C	ClinVar
PIGV	Q9NUD9	p.Met214Leu	rs1440653895	missense variant	-	NC_000001.11:g.26794674A>C	TOPMed
PIGV	Q9NUD9	p.His215Tyr	rs1308287252	missense variant	-	NC_000001.11:g.26794677C>T	TOPMed
PIGV	Q9NUD9	p.Ser216Tyr	rs1323114477	missense variant	-	NC_000001.11:g.26794681C>A	gnomAD
PIGV	Q9NUD9	p.Gln217Glu	rs779441883	missense variant	-	NC_000001.11:g.26794683C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Gln217Ter	rs779441883	stop gained	-	NC_000001.11:g.26794683C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Gln219Pro	rs201380762	missense variant	-	NC_000001.11:g.26794690A>C	1000Genomes
PIGV	Q9NUD9	p.Gly220Val	rs369077530	missense variant	-	NC_000001.11:g.26794693G>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly220Cys	rs1237603284	missense variant	-	NC_000001.11:g.26794692G>T	TOPMed
PIGV	Q9NUD9	p.Phe221Cys	rs780186295	missense variant	-	NC_000001.11:g.26794696T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Ser223Phe	COSM3487593	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794702C>T	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Ser223LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26794694_26794695insT	NCI-TCGA
PIGV	Q9NUD9	p.Ser224Cys	rs909295293	missense variant	-	NC_000001.11:g.26794705C>G	TOPMed
PIGV	Q9NUD9	p.Ser224Tyr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794705C>A	NCI-TCGA
PIGV	Q9NUD9	p.Leu225Val	rs747001986	missense variant	-	NC_000001.11:g.26794707C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Thr226Met	rs942066811	missense variant	-	NC_000001.11:g.26794711C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Met227Arg	rs781524183	missense variant	-	NC_000001.11:g.26794714T>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Met227Thr	rs781524183	missense variant	-	NC_000001.11:g.26794714T>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu228Pro	rs749137316	missense variant	-	NC_000001.11:g.26794717T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro230His	rs1411244783	missense variant	-	NC_000001.11:g.26794723C>A	TOPMed
PIGV	Q9NUD9	p.Pro230Ser	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794722C>T	NCI-TCGA
PIGV	Q9NUD9	p.Gln233His	rs1456518778	missense variant	-	NC_000001.11:g.26794733G>C	gnomAD
PIGV	Q9NUD9	p.Leu234Pro	rs1289163166	missense variant	-	NC_000001.11:g.26794735T>C	gnomAD
PIGV	Q9NUD9	p.Phe235LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26794737T>-	NCI-TCGA
PIGV	Q9NUD9	p.Leu237Val	rs997788862	missense variant	-	NC_000001.11:g.26794743C>G	TOPMed
PIGV	Q9NUD9	p.Ala239Val	rs1364025636	missense variant	-	NC_000001.11:g.26794750C>T	gnomAD
PIGV	Q9NUD9	p.Ser240Ala	rs759516134	missense variant	-	NC_000001.11:g.26794752T>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu241Gln	rs1415996264	missense variant	-	NC_000001.11:g.26794756T>A	TOPMed
PIGV	Q9NUD9	p.Leu243Arg	rs771841963	missense variant	-	NC_000001.11:g.26794762T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu243Pro	RCV000768045	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794762T>C	ClinVar
PIGV	Q9NUD9	p.Ser244Leu	rs148083457	missense variant	-	NC_000001.11:g.26794765C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Val245Leu	rs753463896	missense variant	-	NC_000001.11:g.26794767G>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr247Ala	rs765579778	missense variant	-	NC_000001.11:g.26794773A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu248Phe	rs750687040	missense variant	-	NC_000001.11:g.26794776C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu250Ile	rs780377617	missense variant	-	NC_000001.11:g.26794782C>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala253Thr	rs1047982800	missense variant	-	NC_000001.11:g.26794791G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala253Val	COSM3487594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794792C>T	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Leu254Ile	rs755079722	missense variant	-	NC_000001.11:g.26794794C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Gln256Lys	RCV000001349	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794800C>A	ClinVar
PIGV	Q9NUD9	p.Gln256Lys	rs267606952	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26794800C>A	-
PIGV	Q9NUD9	p.Gln256Lys	rs267606952	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794800C>A	UniProt,dbSNP
PIGV	Q9NUD9	p.Gln256Lys	VAR_064190	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794800C>A	UniProt
PIGV	Q9NUD9	p.Tyr257His	rs1228126006	missense variant	-	NC_000001.11:g.26794803T>C	gnomAD
PIGV	Q9NUD9	p.Tyr260Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794813A>G	NCI-TCGA
PIGV	Q9NUD9	p.Thr261Ter	RCV000733944	frameshift	-	NC_000001.11:g.26794815dup	ClinVar
PIGV	Q9NUD9	p.Gln262His	rs769687257	missense variant	-	NC_000001.11:g.26794820A>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln262Arg	rs374660153	missense variant	-	NC_000001.11:g.26794819A>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln262His	rs769687257	missense variant	-	NC_000001.11:g.26794820A>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe263Leu	COSM907770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794823C>A	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Leu265Pro	rs377225655	missense variant	-	NC_000001.11:g.26794828T>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser268Leu	rs1405637226	missense variant	-	NC_000001.11:g.26794837C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala269Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794839G>A	NCI-TCGA
PIGV	Q9NUD9	p.Arg270Pro	rs149379900	missense variant	-	NC_000001.11:g.26794843G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg270Cys	rs374158705	missense variant	-	NC_000001.11:g.26794842C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg270His	rs149379900	missense variant	-	NC_000001.11:g.26794843G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg270His	RCV000600573	missense variant	-	NC_000001.11:g.26794843G>A	ClinVar
PIGV	Q9NUD9	p.Arg270Cys	RCV000373188	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794842C>T	ClinVar
PIGV	Q9NUD9	p.Pro275Thr	rs887914560	missense variant	-	NC_000001.11:g.26794857C>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Val277Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794863G>A	NCI-TCGA
PIGV	Q9NUD9	p.Val281Ile	rs764811792	missense variant	-	NC_000001.11:g.26794875G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Asp282Gly	rs773648303	missense variant	-	NC_000001.11:g.26794879A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Asp282Asn	COSM3487595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26794878G>A	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Lys283Arg	rs1480010905	missense variant	-	NC_000001.11:g.26794882A>G	gnomAD
PIGV	Q9NUD9	p.Gly284Asp	rs557206710	missense variant	-	NC_000001.11:g.26794885G>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly284Asp	RCV000278822	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794885G>A	ClinVar
PIGV	Q9NUD9	p.Tyr285His	rs1421893600	missense variant	-	NC_000001.11:g.26794887T>C	gnomAD
PIGV	Q9NUD9	p.Tyr285Cys	RCV000594738	missense variant	-	NC_000001.11:g.26794888A>G	ClinVar
PIGV	Q9NUD9	p.Tyr285Cys	rs755167830	missense variant	-	NC_000001.11:g.26794888A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg286Trp	rs539783121	missense variant	-	NC_000001.11:g.26794890C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg286Gln	rs1471492464	missense variant	-	NC_000001.11:g.26794891G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile287Val	rs1426424430	missense variant	-	NC_000001.11:g.26794893A>G	gnomAD
PIGV	Q9NUD9	p.Ala288Val	rs1376564813	missense variant	-	NC_000001.11:g.26794897C>T	TOPMed
PIGV	Q9NUD9	p.Gly290Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794902G>A	NCI-TCGA
PIGV	Q9NUD9	p.Asn291Ser	rs147396061	missense variant	-	NC_000001.11:g.26794906A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn291Asp	rs1352879448	missense variant	-	NC_000001.11:g.26794905A>G	gnomAD
PIGV	Q9NUD9	p.Asn291Ser	RCV000422361	missense variant	-	NC_000001.11:g.26794906A>G	ClinVar
PIGV	Q9NUD9	p.Glu292Lys	rs1310524839	missense variant	-	NC_000001.11:g.26794908G>A	TOPMed
PIGV	Q9NUD9	p.Pro293Leu	rs200014772	missense variant	-	NC_000001.11:g.26794912C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Phe297Leu	rs1057518270	missense variant	-	NC_000001.11:g.26794925C>A	-
PIGV	Q9NUD9	p.Phe297Leu	RCV000413924	missense variant	-	NC_000001.11:g.26794925C>A	ClinVar
PIGV	Q9NUD9	p.Asp299Asn	rs1226968906	missense variant	-	NC_000001.11:g.26794929G>A	gnomAD
PIGV	Q9NUD9	p.Asp299Val	rs771852496	missense variant	-	NC_000001.11:g.26794930A>T	gnomAD
PIGV	Q9NUD9	p.Leu302Val	rs1360820696	missense variant	-	NC_000001.11:g.26794938C>G	gnomAD
PIGV	Q9NUD9	p.Leu302Pro	rs780094407	missense variant	-	NC_000001.11:g.26794939T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Tyr304His	rs768513225	missense variant	-	NC_000001.11:g.26794944T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Ile307Thr	rs370558069	missense variant	-	NC_000001.11:g.26794954T>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile307Asn	rs370558069	missense variant	-	NC_000001.11:g.26794954T>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile307Val	rs1226460671	missense variant	-	NC_000001.11:g.26794953A>G	TOPMed
PIGV	Q9NUD9	p.Ile307Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26794955C>G	NCI-TCGA
PIGV	Q9NUD9	p.Gln308Arg	rs1234266577	missense variant	-	NC_000001.11:g.26794957A>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp309Tyr	rs1482975627	missense variant	-	NC_000001.11:g.26794959G>T	TOPMed
PIGV	Q9NUD9	p.Tyr311Cys	rs769517639	missense variant	-	NC_000001.11:g.26794966A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Trp312Cys	rs1162224599	missense variant	-	NC_000001.11:g.26794970G>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Trp312Arg	rs772709756	missense variant	-	NC_000001.11:g.26794968T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Val314Ala	rs763425078	missense variant	-	NC_000001.11:g.26794975T>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly315Asp	rs199833588	missense variant	-	NC_000001.11:g.26794978G>A	1000Genomes,ExAC,gnomAD
PIGV	Q9NUD9	p.Tyr320Cys	rs148610857	missense variant	-	NC_000001.11:g.26794993A>G	ESP,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys323Arg	rs774991514	missense variant	-	NC_000001.11:g.26795002A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys323Thr	rs774991514	missense variant	-	NC_000001.11:g.26795002A>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln324Ter	rs373315999	stop gained	-	NC_000001.11:g.26795004C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln324His	COSM3789829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795006G>C	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Gln324Lys	rs373315999	missense variant	-	NC_000001.11:g.26795004C>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Val325Met	rs201084787	missense variant	-	NC_000001.11:g.26795007G>A	1000Genomes,ExAC,gnomAD
PIGV	Q9NUD9	p.Asn327Ser	rs142884955	missense variant	-	NC_000001.11:g.26795014A>G	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu329Gln	rs997028891	missense variant	-	NC_000001.11:g.26795020T>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro333Ser	rs1359389792	missense variant	-	NC_000001.11:g.26795031C>T	TOPMed
PIGV	Q9NUD9	p.Ala335Thr	rs753991047	missense variant	-	NC_000001.11:g.26795037G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ile336Met	rs1057515437	missense variant	-	NC_000001.11:g.26795042A>G	-
PIGV	Q9NUD9	p.Ile336Val	rs758278375	missense variant	-	NC_000001.11:g.26795040A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile336Met	RCV000338501	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26795042A>G	ClinVar
PIGV	Q9NUD9	p.Leu337Met	COSM907772	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795043C>A	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Ala339Ser	rs1214680827	missense variant	-	NC_000001.11:g.26795049G>T	gnomAD
PIGV	Q9NUD9	p.Ala341Val	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795056C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala341Glu	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>A	UniProt,dbSNP
PIGV	Q9NUD9	p.Ala341Glu	VAR_064191	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>A	UniProt
PIGV	Q9NUD9	p.Ala341Glu	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795056C>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala341Val	RCV000001350	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>T	ClinVar
PIGV	Q9NUD9	p.Ala341Glu	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795056C>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala341Val	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795056C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala341Val	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>T	UniProt,dbSNP
PIGV	Q9NUD9	p.Ala341Val	VAR_064192	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>T	UniProt
PIGV	Q9NUD9	p.Ala341Glu	RCV000613584	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26795056C>A	ClinVar
PIGV	Q9NUD9	p.Thr344Arg	rs1202688840	missense variant	-	NC_000001.11:g.26795065C>G	gnomAD
PIGV	Q9NUD9	p.Thr344Ser	rs746747719	missense variant	-	NC_000001.11:g.26795064A>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Tyr345Ter	rs1289360702	stop gained	-	NC_000001.11:g.26795068dup	TOPMed,gnomAD
PIGV	Q9NUD9	p.Tyr345His	rs1052062433	missense variant	-	NC_000001.11:g.26795067T>C	TOPMed
PIGV	Q9NUD9	p.Val346Met	rs768120577	missense variant	-	NC_000001.11:g.26795070G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr347Ala	rs769166258	missense variant	-	NC_000001.11:g.26795073A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr348Ile	rs144053014	missense variant	-	NC_000001.11:g.26795077C>T	ESP
PIGV	Q9NUD9	p.His349Arg	rs796445275	missense variant	-	NC_000001.11:g.26795080A>G	gnomAD
PIGV	Q9NUD9	p.His349Tyr	rs772977347	missense variant	-	NC_000001.11:g.26795079C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Cys353Phe	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26795092G>T	NCI-TCGA
PIGV	Q9NUD9	p.Leu354Val	rs1421801921	missense variant	-	NC_000001.11:g.26795094C>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu356Arg	rs988022455	missense variant	-	NC_000001.11:g.26795101T>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu356Pro	rs988022455	missense variant	-	NC_000001.11:g.26795101T>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser361Asn	rs748890495	missense variant	-	NC_000001.11:g.26795116G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ser361Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26795117C>G	NCI-TCGA
PIGV	Q9NUD9	p.Lys362Gln	rs376257064	missense variant	-	NC_000001.11:g.26795118A>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys362Gln	RCV000493284	missense variant	-	NC_000001.11:g.26795118A>C	ClinVar
PIGV	Q9NUD9	p.Lys362Glu	rs376257064	missense variant	-	NC_000001.11:g.26795118A>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn363Thr	COSM4031037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795122A>C	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Asn363Lys	rs904668661	missense variant	-	NC_000001.11:g.26795123C>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys365Arg	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26795128A>G	NCI-TCGA
PIGV	Q9NUD9	p.Lys365Glu	rs1316594177	missense variant	-	NC_000001.11:g.26795127A>G	gnomAD
PIGV	Q9NUD9	p.Thr366Asn	rs774871967	missense variant	-	NC_000001.11:g.26795131C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr366Ile	rs774871967	missense variant	-	NC_000001.11:g.26795131C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu367Ile	rs772740992	missense variant	-	NC_000001.11:g.26795133C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu367Pro	rs1343172835	missense variant	-	NC_000001.11:g.26795134T>C	gnomAD
PIGV	Q9NUD9	p.Pro370Leu	COSM3487596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795143C>T	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Pro370Ser	rs776115008	missense variant	-	NC_000001.11:g.26795142C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Asp371Asn	rs764074675	missense variant	-	NC_000001.11:g.26795145G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp371His	rs764074675	missense variant	-	NC_000001.11:g.26795145G>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe374Leu	COSM3487597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795156C>A	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Ser376Gly	rs753887088	missense variant	-	NC_000001.11:g.26795160A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro377Leu	rs1420244341	missense variant	-	NC_000001.11:g.26795164C>T	TOPMed
PIGV	Q9NUD9	p.Gln378Arg	rs1034061662	missense variant	-	NC_000001.11:g.26795167A>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Val379Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26795169G>T	NCI-TCGA
PIGV	Q9NUD9	p.Val381Leu	rs1179780840	missense variant	-	NC_000001.11:g.26795175G>C	gnomAD
PIGV	Q9NUD9	p.Tyr382Cys	rs1283234892	missense variant	-	NC_000001.11:g.26795179A>G	gnomAD
PIGV	Q9NUD9	p.Val383Met	RCV000521023	missense variant	-	NC_000001.11:g.26795181G>A	ClinVar
PIGV	Q9NUD9	p.Val383Met	rs765449173	missense variant	-	NC_000001.11:g.26795181G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His385Pro	rs267606951	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795188A>C	UniProt,dbSNP
PIGV	Q9NUD9	p.His385Pro	VAR_064193	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795188A>C	UniProt
PIGV	Q9NUD9	p.His385Pro	rs267606951	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795188A>C	ExAC,gnomAD
PIGV	Q9NUD9	p.His385Tyr	rs751387512	missense variant	-	NC_000001.11:g.26795187C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.His385Gln	rs200817594	missense variant	-	NC_000001.11:g.26795189C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His385Pro	RCV000001348	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795188A>C	ClinVar
PIGV	Q9NUD9	p.Ala386Thr	rs1430247948	missense variant	-	NC_000001.11:g.26795190G>A	gnomAD
PIGV	Q9NUD9	p.Ala387Val	rs1396350236	missense variant	-	NC_000001.11:g.26795194C>T	TOPMed
PIGV	Q9NUD9	p.Val388Glu	COSM1341441	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795197T>A	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Leu390Pro	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26795203T>C	NCI-TCGA
PIGV	Q9NUD9	p.Leu391Pro	rs374617474	missense variant	-	NC_000001.11:g.26795206T>C	ESP,ExAC,gnomAD
PIGV	Q9NUD9	p.Phe392Cys	COSM1341442	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26795209T>G	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Phe392Leu	rs748777160	missense variant	-	NC_000001.11:g.26795210T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu395Val	rs1014330215	missense variant	-	NC_000001.11:g.26795217C>G	TOPMed
PIGV	Q9NUD9	p.Met397Val	rs778672695	missense variant	-	NC_000001.11:g.26795223A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Val401Ile	rs767296371	missense variant	-	NC_000001.11:g.26797563G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg404Thr	rs907205232	missense variant	-	NC_000001.11:g.26797573G>C	TOPMed
PIGV	Q9NUD9	p.Phe405Leu	rs1057515509	missense variant	-	NC_000001.11:g.26797575T>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe405Cys	COSM907773	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797576T>G	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Phe405Ile	rs1057515509	missense variant	-	NC_000001.11:g.26797575T>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe405Ile	RCV000391703	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26797575T>A	ClinVar
PIGV	Q9NUD9	p.Gly407Ala	rs1330977790	missense variant	-	NC_000001.11:g.26797582G>C	TOPMed
PIGV	Q9NUD9	p.Gly407Ser	rs752424976	missense variant	-	NC_000001.11:g.26797581G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Gly407Ala	RCV000524036	missense variant	-	NC_000001.11:g.26797582G>C	ClinVar
PIGV	Q9NUD9	p.Thr410Ser	rs777720578	missense variant	-	NC_000001.11:g.26797590A>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile412Val	COSM4031038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797596A>G	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Ile412Thr	rs1452161183	missense variant	-	NC_000001.11:g.26797597T>C	TOPMed
PIGV	Q9NUD9	p.Met413Leu	rs753323479	missense variant	-	NC_000001.11:g.26797599A>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Met413Ile	rs1335917148	missense variant	-	NC_000001.11:g.26797601G>A	gnomAD
PIGV	Q9NUD9	p.Trp415Cys	rs1009015375	missense variant	-	NC_000001.11:g.26797607G>T	gnomAD
PIGV	Q9NUD9	p.Trp415Ter	rs1009015375	stop gained	-	NC_000001.11:g.26797607G>A	gnomAD
PIGV	Q9NUD9	p.Pro417Thr	rs756764882	missense variant	-	NC_000001.11:g.26797611C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ala418Asp	rs1271144650	missense variant	-	NC_000001.11:g.26797615C>A	TOPMed
PIGV	Q9NUD9	p.His419Asp	rs778762487	missense variant	-	NC_000001.11:g.26797617C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His419Asn	rs778762487	missense variant	-	NC_000001.11:g.26797617C>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp423Asn	rs745507329	missense variant	-	NC_000001.11:g.26797629G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro426Leu	rs146969255	missense variant	-	NC_000001.11:g.26797639C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro426Leu	RCV000294158	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26797639C>T	ClinVar
PIGV	Q9NUD9	p.Pro426Leu	RCV000724080	missense variant	-	NC_000001.11:g.26797639C>T	ClinVar
PIGV	Q9NUD9	p.Pro426Leu	RCV000178312	missense variant	-	NC_000001.11:g.26797639C>T	ClinVar
PIGV	Q9NUD9	p.Arg429Lys	rs747348693	missense variant	-	NC_000001.11:g.26797648G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ser430Pro	rs769074339	missense variant	-	NC_000001.11:g.26797650T>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys432Thr	rs758118607	missense variant	-	NC_000001.11:g.26797657A>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Thr433Ser	COSM1473821	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797659A>T	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Val434Met	rs143081680	missense variant	-	NC_000001.11:g.26797662G>A	ESP,ExAC,TOPMed
PIGV	Q9NUD9	p.Pro435Ser	rs773491605	missense variant	-	NC_000001.11:g.26797665C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Lys437Glu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26797671A>G	NCI-TCGA
PIGV	Q9NUD9	p.Lys437Arg	rs763168434	missense variant	-	NC_000001.11:g.26797672A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro438Leu	RCV000494191	missense variant	-	NC_000001.11:g.26797675C>T	ClinVar
PIGV	Q9NUD9	p.Pro438Leu	rs766533625	missense variant	-	NC_000001.11:g.26797675C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu439Val	rs1166734973	missense variant	-	NC_000001.11:g.26797677C>G	gnomAD
PIGV	Q9NUD9	p.Ala440Thr	rs1013076880	missense variant	-	NC_000001.11:g.26797680G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp442Tyr	rs201804133	missense variant	-	NC_000001.11:g.26797686G>T	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser443Phe	rs760482425	missense variant	-	NC_000001.11:g.26797690C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro444Leu	rs763982792	missense variant	-	NC_000001.11:g.26797693C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro444GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26797690_26797709CCCCACCAGGACAAAAGGTC>-	NCI-TCGA
PIGV	Q9NUD9	p.Pro445Ser	rs370891890	missense variant	-	NC_000001.11:g.26797695C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln447Glu	rs966434689	missense variant	-	NC_000001.11:g.26797701C>G	TOPMed
PIGV	Q9NUD9	p.Lys448Arg	rs1324547284	missense variant	-	NC_000001.11:g.26797705A>G	gnomAD
PIGV	Q9NUD9	p.Asn452Ser	rs531599538	missense variant	-	NC_000001.11:g.26797717A>G	TOPMed
PIGV	Q9NUD9	p.Asn452His	rs977742727	missense variant	-	NC_000001.11:g.26797716A>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile454Leu	rs756890344	missense variant	-	NC_000001.11:g.26797722A>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Ile454Met	rs1180105021	missense variant	-	NC_000001.11:g.26797724C>G	TOPMed
PIGV	Q9NUD9	p.Ile454Asn	rs764840970	missense variant	-	NC_000001.11:g.26797723T>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Met455Thr	rs749892627	missense variant	-	NC_000001.11:g.26797726T>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly456Arg	rs957961816	missense variant	-	NC_000001.11:g.26797728G>A	TOPMed
PIGV	Q9NUD9	p.Leu457Phe	rs143676075	missense variant	-	NC_000001.11:g.26797731C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu457Phe	RCV000765108	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26797731C>T	ClinVar
PIGV	Q9NUD9	p.Leu457Phe	RCV000490215	missense variant	-	NC_000001.11:g.26797731C>T	ClinVar
PIGV	Q9NUD9	p.Trp461Arg	rs150563150	missense variant	-	NC_000001.11:g.26797743T>C	ESP,gnomAD
PIGV	Q9NUD9	p.Trp461Ter	rs747373591	stop gained	-	NC_000001.11:g.26797744G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr463Ile	rs755347942	missense variant	-	NC_000001.11:g.26797750C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Cys464TyrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.26797753_26797768GTTCTCCAGTCACACG>-	NCI-TCGA
PIGV	Q9NUD9	p.Ser465Tyr	COSM907774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797756C>A	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Ser465Phe	rs1191872813	missense variant	-	NC_000001.11:g.26797756C>T	gnomAD
PIGV	Q9NUD9	p.Val467Gly	rs748685118	missense variant	-	NC_000001.11:g.26797762T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr468Arg	rs1463066620	missense variant	-	NC_000001.11:g.26797765C>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg469Gly	rs770220740	missense variant	-	NC_000001.11:g.26797767C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg469Gln	rs1045854988	missense variant	-	NC_000001.11:g.26797768G>A	TOPMed
PIGV	Q9NUD9	p.Arg469Ter	rs770220740	stop gained	-	NC_000001.11:g.26797767C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Tyr470Cys	rs1327869506	missense variant	-	NC_000001.11:g.26797771A>G	TOPMed
PIGV	Q9NUD9	p.Ile471Val	rs749320195	missense variant	-	NC_000001.11:g.26797773A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu472Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.26797776C>A	NCI-TCGA
PIGV	Q9NUD9	p.Leu472Pro	RCV000479838	missense variant	-	NC_000001.11:g.26797777T>C	ClinVar
PIGV	Q9NUD9	p.Leu472Pro	rs774605091	missense variant	-	NC_000001.11:g.26797777T>C	ExAC,TOPMed
PIGV	Q9NUD9	p.Leu472Val	rs771177205	missense variant	-	NC_000001.11:g.26797776C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Phe475Leu	rs549740566	missense variant	-	NC_000001.11:g.26797787C>G	gnomAD
PIGV	Q9NUD9	p.Thr477Ile	rs940048236	missense variant	-	NC_000001.11:g.26797792C>T	TOPMed
PIGV	Q9NUD9	p.Tyr478Cys	rs1358703459	missense variant	-	NC_000001.11:g.26797795A>G	TOPMed
PIGV	Q9NUD9	p.Trp479Arg	rs1296165102	missense variant	-	NC_000001.11:g.26797797T>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Trp479Ter	rs1327167208	stop gained	-	NC_000001.11:g.26797799G>A	gnomAD
PIGV	Q9NUD9	p.Gly482Arg	rs761689645	missense variant	-	NC_000001.11:g.26797806G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly482Glu	rs1204745319	missense variant	-	NC_000001.11:g.26797807G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly482Ala	rs1204745319	missense variant	-	NC_000001.11:g.26797807G>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu483Val	rs765175813	missense variant	-	NC_000001.11:g.26797809C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu483Arg	rs149327962	missense variant	-	NC_000001.11:g.26797810T>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His486Arg	rs1196564368	missense variant	-	NC_000001.11:g.26797819A>G	gnomAD
PIGV	Q9NUD9	p.Asn488Lys	rs973687848	missense variant	-	NC_000001.11:g.26797826C>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe489Leu	rs146467198	missense variant	-	NC_000001.11:g.26797829C>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu490Val	COSM1320236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.26797830C>G	NCI-TCGA Cosmic
PIGV	Q9NUD9	p.Thr493Ala	rs1057515548	missense variant	-	NC_000001.11:g.26797839A>G	TOPMed
PIGV	Q9NUD9	p.Thr493Ala	RCV000403426	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26797839A>G	ClinVar
PIGV	Q9NUD9	p.Thr493Ile	rs1177767124	missense variant	-	NC_000001.11:g.26797840C>T	gnomAD
PIGV	Q9NUD9	p.Ter494Ser	rs748710132	stop lost	-	NC_000001.11:g.26797843G>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Trp2Ser	RCV000726906	missense variant	-	NC_000001.11:g.26790820G>C	ClinVar
PIGV	Q9NUD9	p.Trp2Arg	rs746851628	missense variant	-	NC_000001.11:g.26790819T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Trp2Ser	rs768302053	missense variant	-	NC_000001.11:g.26790820G>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln4Pro	rs374162679	missense variant	-	NC_000001.11:g.26790826A>C	ESP,ExAC,gnomAD
PIGV	Q9NUD9	p.Asp5Glu	rs1304154319	missense variant	-	NC_000001.11:g.26790830C>A	TOPMed
PIGV	Q9NUD9	p.Ser7Phe	rs1321002098	missense variant	-	NC_000001.11:g.26790835C>T	gnomAD
PIGV	Q9NUD9	p.Arg8Gln	rs368673102	missense variant	-	NC_000001.11:g.26790838G>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg8Trp	rs769363441	missense variant	-	NC_000001.11:g.26790837C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg8Leu	rs368673102	missense variant	-	NC_000001.11:g.26790838G>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys9Glu	rs1300582712	missense variant	-	NC_000001.11:g.26790840A>G	gnomAD
PIGV	Q9NUD9	p.Leu12Pro	rs1224980639	missense variant	-	NC_000001.11:g.26790850T>C	TOPMed
PIGV	Q9NUD9	p.Arg13Trp	rs1234068522	missense variant	-	NC_000001.11:g.26790852A>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg13Gly	rs1234068522	missense variant	-	NC_000001.11:g.26790852A>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg13Lys	rs1265044679	missense variant	-	NC_000001.11:g.26790853G>A	gnomAD
PIGV	Q9NUD9	p.Phe14Leu	rs1029026239	missense variant	-	NC_000001.11:g.26790855T>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Val16Ala	rs1248849575	missense variant	-	NC_000001.11:g.26790862T>C	gnomAD
PIGV	Q9NUD9	p.Ser17Thr	rs773837990	missense variant	-	NC_000001.11:g.26790865G>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg19Cys	rs759988046	missense variant	-	NC_000001.11:g.26790870C>T	ExAC,TOPMed
PIGV	Q9NUD9	p.Arg19His	rs767977785	missense variant	-	NC_000001.11:g.26790871G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg19Cys	RCV000660523	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26790870C>T	ClinVar
PIGV	Q9NUD9	p.Gln26His	rs764634467	missense variant	-	NC_000001.11:g.26790893G>T	ExAC
PIGV	Q9NUD9	p.Ala27Gly	rs776006610	missense variant	-	NC_000001.11:g.26794114C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu28Phe	rs976215465	missense variant	-	NC_000001.11:g.26794116C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe29Leu	rs764728447	missense variant	-	NC_000001.11:g.26794121C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile32Val	RCV000429430	missense variant	-	NC_000001.11:g.26794128A>G	ClinVar
PIGV	Q9NUD9	p.Ile32Val	rs147565152	missense variant	-	NC_000001.11:g.26794128A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro34Leu	rs139246652	missense variant	-	NC_000001.11:g.26794135C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro34Leu	RCV000327702	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794135C>T	ClinVar
PIGV	Q9NUD9	p.Asp35Gly	rs765217723	missense variant	-	NC_000001.11:g.26794138A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His37Gln	rs1057523852	missense variant	-	NC_000001.11:g.26794145T>G	TOPMed
PIGV	Q9NUD9	p.Ala38Thr	rs1225710259	missense variant	-	NC_000001.11:g.26794146G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Glu39Lys	rs369275802	missense variant	-	NC_000001.11:g.26794149G>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Glu39Lys	RCV000765106	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794149G>A	ClinVar
PIGV	Q9NUD9	p.Glu39Lys	RCV000521292	missense variant	-	NC_000001.11:g.26794149G>A	ClinVar
PIGV	Q9NUD9	p.Ser42Cys	rs576197715	missense variant	-	NC_000001.11:g.26794159C>G	1000Genomes,ExAC,gnomAD
PIGV	Q9NUD9	p.Pro44Leu	rs766531574	missense variant	-	NC_000001.11:g.26794165C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg45His	rs148135928	missense variant	-	NC_000001.11:g.26794168G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg45Cys	rs752514953	missense variant	-	NC_000001.11:g.26794167C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg45Cys	RCV000478841	missense variant	-	NC_000001.11:g.26794167C>T	ClinVar
PIGV	Q9NUD9	p.Arg45His	RCV000726136	missense variant	-	NC_000001.11:g.26794168G>A	ClinVar
PIGV	Q9NUD9	p.Arg45His	RCV000768044	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794168G>A	ClinVar
PIGV	Q9NUD9	p.Ser49Ter	rs145160045	stop gained	-	NC_000001.11:g.26794180C>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly50Ala	rs927191319	missense variant	-	NC_000001.11:g.26794183G>C	TOPMed
PIGV	Q9NUD9	p.Gly50Cys	rs756855102	missense variant	-	NC_000001.11:g.26794182G>T	ExAC
PIGV	Q9NUD9	p.Asp53Gly	rs771869741	missense variant	-	NC_000001.11:g.26794192A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu55Val	rs779812457	missense variant	-	NC_000001.11:g.26794197C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Val56Met	rs1471512677	missense variant	-	NC_000001.11:g.26794200G>A	gnomAD
PIGV	Q9NUD9	p.Leu59Arg	rs142252055	missense variant	-	NC_000001.11:g.26794210T>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly62Ser	rs777251503	missense variant	-	NC_000001.11:g.26794218G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu63Pro	rs1353765826	missense variant	-	NC_000001.11:g.26794222T>C	TOPMed
PIGV	Q9NUD9	p.Ser64Pro	rs762224266	missense variant	-	NC_000001.11:g.26794224T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Trp66Ter	rs1430286706	stop gained	-	NC_000001.11:g.26794231G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Trp66Ter	rs534283082	stop gained	-	NC_000001.11:g.26794232G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp67Asn	rs773179141	missense variant	-	NC_000001.11:g.26794233G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His70Pro	rs975703223	missense variant	-	NC_000001.11:g.26794243A>C	gnomAD
PIGV	Q9NUD9	p.Phe71Leu	rs1283891602	missense variant	-	NC_000001.11:g.26794247C>A	gnomAD
PIGV	Q9NUD9	p.Leu72Ser	rs762971798	missense variant	-	NC_000001.11:g.26794249T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu72Phe	rs766623579	missense variant	-	NC_000001.11:g.26794250G>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Ala75Thr	rs760514806	missense variant	-	NC_000001.11:g.26794257G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Glu76Asp	rs1229853041	missense variant	-	NC_000001.11:g.26794262G>T	gnomAD
PIGV	Q9NUD9	p.Tyr81Ter	rs757152471	stop gained	-	NC_000001.11:g.26794277T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Glu82Lys	rs1462326347	missense variant	-	NC_000001.11:g.26794278G>A	gnomAD
PIGV	Q9NUD9	p.His83Arg	rs1186478881	missense variant	-	NC_000001.11:g.26794282A>G	gnomAD
PIGV	Q9NUD9	p.Asn84Ser	rs1389268067	missense variant	-	NC_000001.11:g.26794285A>G	gnomAD
PIGV	Q9NUD9	p.Ala86Ser	rs778857841	missense variant	-	NC_000001.11:g.26794290G>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Phe88Ser	rs779902346	missense variant	-	NC_000001.11:g.26794297T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Gly90Ser	rs201121029	missense variant	-	NC_000001.11:g.26794302G>A	1000Genomes,ExAC
PIGV	Q9NUD9	p.Phe91Leu	rs778182206	missense variant	-	NC_000001.11:g.26794305T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro92Ser	rs1407113835	missense variant	-	NC_000001.11:g.26794308C>T	gnomAD
PIGV	Q9NUD9	p.Leu93Ser	rs748489022	missense variant	-	NC_000001.11:g.26794312T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu93Val	rs751810774	missense variant	-	NC_000001.11:g.26794311T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Ala94Val	rs1364980125	missense variant	-	NC_000001.11:g.26794315C>T	gnomAD
PIGV	Q9NUD9	p.Leu96Pro	rs1056953594	missense variant	-	NC_000001.11:g.26794321T>C	TOPMed
PIGV	Q9NUD9	p.Gly98Glu	rs770225432	missense variant	-	NC_000001.11:g.26794327G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg103Lys	rs1343420879	missense variant	-	NC_000001.11:g.26794342G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu105Ser	rs946759435	missense variant	-	NC_000001.11:g.26794348T>C	TOPMed
PIGV	Q9NUD9	p.Arg106Gln	rs180892038	missense variant	-	NC_000001.11:g.26794351G>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg106Trp	rs372631555	missense variant	-	NC_000001.11:g.26794350C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly107Arg	rs774616798	missense variant	-	NC_000001.11:g.26794353G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Gly107Val	rs1195044511	missense variant	-	NC_000001.11:g.26794354G>T	gnomAD
PIGV	Q9NUD9	p.Ser110Thr	rs1477617208	missense variant	-	NC_000001.11:g.26794363G>C	gnomAD
PIGV	Q9NUD9	p.Arg112His	rs757137280	missense variant	-	NC_000001.11:g.26794369G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg112Cys	rs1172094159	missense variant	-	NC_000001.11:g.26794368C>T	gnomAD
PIGV	Q9NUD9	p.LeuIle116LeuVal	rs886044116	missense variant	-	NC_000001.11:g.26794382_26794383delinsAG	-
PIGV	Q9NUD9	p.Leu116Pro	rs765126006	missense variant	-	NC_000001.11:g.26794381T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Ile117Val	RCV000765107	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794382_26794383delinsAG	ClinVar
PIGV	Q9NUD9	p.Ile117Val	RCV000726297	missense variant	-	NC_000001.11:g.26794382_26794383delinsAG	ClinVar
PIGV	Q9NUD9	p.Ile117Val	rs142192097	missense variant	-	NC_000001.11:g.26794383A>G	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile117Val	RCV000313858	missense variant	-	NC_000001.11:g.26794382_26794383delinsAG	ClinVar
PIGV	Q9NUD9	p.Ile117Val	RCV000455981	missense variant	-	NC_000001.11:g.26794383A>G	ClinVar
PIGV	Q9NUD9	p.Ile117Val	RCV000286962	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794383A>G	ClinVar
PIGV	Q9NUD9	p.Ile117Val	RCV000514626	missense variant	-	NC_000001.11:g.26794383A>G	ClinVar
PIGV	Q9NUD9	p.Ser118Leu	rs1320617918	missense variant	-	NC_000001.11:g.26794387C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Val119Leu	rs1436327969	missense variant	-	NC_000001.11:g.26794389G>T	gnomAD
PIGV	Q9NUD9	p.Asn123Ser	rs1267164610	missense variant	-	NC_000001.11:g.26794402A>G	gnomAD
PIGV	Q9NUD9	p.Leu125Phe	rs780850497	missense variant	-	NC_000001.11:g.26794409G>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Phe127Ser	rs1450982775	missense variant	-	NC_000001.11:g.26794414T>C	gnomAD
PIGV	Q9NUD9	p.Phe127Leu	rs369959763	missense variant	-	NC_000001.11:g.26794413T>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Met128Ile	rs756473629	missense variant	-	NC_000001.11:g.26794418G>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Met128Val	rs1199547027	missense variant	-	NC_000001.11:g.26794416A>G	gnomAD
PIGV	Q9NUD9	p.Ala131Glu	rs1411515628	missense variant	-	NC_000001.11:g.26794426C>A	gnomAD
PIGV	Q9NUD9	p.Ala133Val	rs1454467423	missense variant	-	NC_000001.11:g.26794432C>T	gnomAD
PIGV	Q9NUD9	p.Leu134Phe	rs1160677041	missense variant	-	NC_000001.11:g.26794434C>T	gnomAD
PIGV	Q9NUD9	p.His135Tyr	rs1389087489	missense variant	-	NC_000001.11:g.26794437C>T	gnomAD
PIGV	Q9NUD9	p.His135Leu	rs1268654036	missense variant	-	NC_000001.11:g.26794438A>T	TOPMed
PIGV	Q9NUD9	p.His143Arg	rs371892825	missense variant	-	NC_000001.11:g.26794462A>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Cys144Arg	rs1299832481	missense variant	-	NC_000001.11:g.26794464T>C	gnomAD
PIGV	Q9NUD9	p.His146Gln	rs1287083616	missense variant	-	NC_000001.11:g.26794472C>A	gnomAD
PIGV	Q9NUD9	p.His146Tyr	rs745894226	missense variant	-	NC_000001.11:g.26794470C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Gln147Glu	rs185641230	missense variant	-	NC_000001.11:g.26794473C>G	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln147Ter	rs185641230	stop gained	-	NC_000001.11:g.26794473C>T	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln147Arg	rs1346310440	missense variant	-	NC_000001.11:g.26794474A>G	TOPMed
PIGV	Q9NUD9	p.Phe149Ser	rs1210864247	missense variant	-	NC_000001.11:g.26794480T>C	TOPMed
PIGV	Q9NUD9	p.Tyr150Asn	rs761560339	missense variant	-	NC_000001.11:g.26794482T>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ala151Gly	rs1057524351	missense variant	-	NC_000001.11:g.26794486C>G	-
PIGV	Q9NUD9	p.Ala151Gly	RCV000437697	missense variant	-	NC_000001.11:g.26794486C>G	ClinVar
PIGV	Q9NUD9	p.Ala152Asp	rs773349099	missense variant	-	NC_000001.11:g.26794489C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu154Val	rs766362407	missense variant	-	NC_000001.11:g.26794494C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Cys156Tyr	RCV000413902	missense variant	-	NC_000001.11:g.26794501G>A	ClinVar
PIGV	Q9NUD9	p.Cys156Tyr	rs387907023	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26794501G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser158Asn	rs201332799	missense variant	-	NC_000001.11:g.26794507G>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn161Ser	rs767117669	missense variant	-	NC_000001.11:g.26794516A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala165Glu	RCV000122740	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794528C>A	ClinVar
PIGV	Q9NUD9	p.Ala165Glu	rs376328153	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26794528C>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly167Ser	rs756498571	missense variant	-	NC_000001.11:g.26794533G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Tyr168Ter	rs778110820	stop gained	-	NC_000001.11:g.26794538C>G	ExAC
PIGV	Q9NUD9	p.Ser169Leu	rs1472708398	missense variant	-	NC_000001.11:g.26794540C>T	gnomAD
PIGV	Q9NUD9	p.Glu170Lys	rs749593521	missense variant	-	NC_000001.11:g.26794542G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala171Thr	rs1368007368	missense variant	-	NC_000001.11:g.26794545G>A	gnomAD
PIGV	Q9NUD9	p.Leu172Phe	rs757780191	missense variant	-	NC_000001.11:g.26794550G>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala174Asp	rs1248828096	missense variant	-	NC_000001.11:g.26794555C>A	gnomAD
PIGV	Q9NUD9	p.Leu175Phe	rs745984839	missense variant	-	NC_000001.11:g.26794557C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser179Ile	rs1441977431	missense variant	-	NC_000001.11:g.26794570G>T	TOPMed
PIGV	Q9NUD9	p.Ala180Gly	rs1331861478	missense variant	-	NC_000001.11:g.26794573C>G	gnomAD
PIGV	Q9NUD9	p.Met181Thr	rs772167728	missense variant	-	NC_000001.11:g.26794576T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Met181Val	rs1339455825	missense variant	-	NC_000001.11:g.26794575A>G	gnomAD
PIGV	Q9NUD9	p.Gly182Glu	rs775630257	missense variant	-	NC_000001.11:g.26794579G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Glu185Gln	rs1306060571	missense variant	-	NC_000001.11:g.26794587G>C	TOPMed
PIGV	Q9NUD9	p.Arg186Thr	rs1340002703	missense variant	-	NC_000001.11:g.26794591G>C	gnomAD
PIGV	Q9NUD9	p.Arg188Gln	rs368069947	missense variant	-	NC_000001.11:g.26794597G>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg188Ter	rs1369324588	stop gained	-	NC_000001.11:g.26794596C>T	TOPMed
PIGV	Q9NUD9	p.Val189Ala	rs968410236	missense variant	-	NC_000001.11:g.26794600T>C	TOPMed
PIGV	Q9NUD9	p.Val189Ile	rs1251786702	missense variant	-	NC_000001.11:g.26794599G>A	gnomAD
PIGV	Q9NUD9	p.Trp190Ter	rs202211728	stop gained	-	NC_000001.11:g.26794603G>A	1000Genomes,ExAC,gnomAD
PIGV	Q9NUD9	p.Thr191Ser	rs773156094	missense variant	-	NC_000001.11:g.26794606C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Val193Ile	rs1460987621	missense variant	-	NC_000001.11:g.26794611G>A	gnomAD
PIGV	Q9NUD9	p.Leu194Phe	rs979756603	missense variant	-	NC_000001.11:g.26794614C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala199Ser	rs1387412495	missense variant	-	NC_000001.11:g.26794629G>T	gnomAD
PIGV	Q9NUD9	p.Gly201Glu	rs1453594216	missense variant	-	NC_000001.11:g.26794636G>A	TOPMed
PIGV	Q9NUD9	p.Arg203Cys	rs149690056	missense variant	-	NC_000001.11:g.26794641C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg203Leu	rs1168553787	missense variant	-	NC_000001.11:g.26794642G>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg203His	rs1168553787	missense variant	-	NC_000001.11:g.26794642G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn205Lys	rs34512715	missense variant	-	NC_000001.11:g.26794649C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn205Ser	rs766452597	missense variant	-	NC_000001.11:g.26794648A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn205Ser	RCV000482776	missense variant	-	NC_000001.11:g.26794648A>G	ClinVar
PIGV	Q9NUD9	p.Asn205Lys	RCV000591654	missense variant	-	NC_000001.11:g.26794649C>G	ClinVar
PIGV	Q9NUD9	p.Gly206Arg	rs759021332	missense variant	-	NC_000001.11:g.26794650G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Val208Ile	rs760382543	missense variant	-	NC_000001.11:g.26794656G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ser209Thr	rs1434086651	missense variant	-	NC_000001.11:g.26794660G>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly211Val	rs1296279337	missense variant	-	NC_000001.11:g.26794666G>T	gnomAD
PIGV	Q9NUD9	p.Leu213Pro	rs146852030	missense variant	-	NC_000001.11:g.26794672T>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu213Val	rs763683136	missense variant	-	NC_000001.11:g.26794671C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu213Pro	RCV000442084	missense variant	-	NC_000001.11:g.26794672T>C	ClinVar
PIGV	Q9NUD9	p.Met214Leu	rs1440653895	missense variant	-	NC_000001.11:g.26794674A>C	TOPMed
PIGV	Q9NUD9	p.His215Tyr	rs1308287252	missense variant	-	NC_000001.11:g.26794677C>T	TOPMed
PIGV	Q9NUD9	p.Ser216Tyr	rs1323114477	missense variant	-	NC_000001.11:g.26794681C>A	gnomAD
PIGV	Q9NUD9	p.Gln217Glu	rs779441883	missense variant	-	NC_000001.11:g.26794683C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Gln217Ter	rs779441883	stop gained	-	NC_000001.11:g.26794683C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Gln219Pro	rs201380762	missense variant	-	NC_000001.11:g.26794690A>C	1000Genomes
PIGV	Q9NUD9	p.Gly220Val	rs369077530	missense variant	-	NC_000001.11:g.26794693G>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly220Cys	rs1237603284	missense variant	-	NC_000001.11:g.26794692G>T	TOPMed
PIGV	Q9NUD9	p.Phe221Cys	rs780186295	missense variant	-	NC_000001.11:g.26794696T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Ser224Cys	rs909295293	missense variant	-	NC_000001.11:g.26794705C>G	TOPMed
PIGV	Q9NUD9	p.Leu225Val	rs747001986	missense variant	-	NC_000001.11:g.26794707C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Thr226Met	rs942066811	missense variant	-	NC_000001.11:g.26794711C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Met227Thr	rs781524183	missense variant	-	NC_000001.11:g.26794714T>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Met227Arg	rs781524183	missense variant	-	NC_000001.11:g.26794714T>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu228Pro	rs749137316	missense variant	-	NC_000001.11:g.26794717T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro230His	rs1411244783	missense variant	-	NC_000001.11:g.26794723C>A	TOPMed
PIGV	Q9NUD9	p.Gln233His	rs1456518778	missense variant	-	NC_000001.11:g.26794733G>C	gnomAD
PIGV	Q9NUD9	p.Leu234Pro	rs1289163166	missense variant	-	NC_000001.11:g.26794735T>C	gnomAD
PIGV	Q9NUD9	p.Leu237Val	rs997788862	missense variant	-	NC_000001.11:g.26794743C>G	TOPMed
PIGV	Q9NUD9	p.Ala239Val	rs1364025636	missense variant	-	NC_000001.11:g.26794750C>T	gnomAD
PIGV	Q9NUD9	p.Ser240Ala	rs759516134	missense variant	-	NC_000001.11:g.26794752T>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu241Gln	rs1415996264	missense variant	-	NC_000001.11:g.26794756T>A	TOPMed
PIGV	Q9NUD9	p.Leu243Arg	rs771841963	missense variant	-	NC_000001.11:g.26794762T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu243Pro	RCV000768045	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794762T>C	ClinVar
PIGV	Q9NUD9	p.Ser244Leu	rs148083457	missense variant	-	NC_000001.11:g.26794765C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Val245Leu	rs753463896	missense variant	-	NC_000001.11:g.26794767G>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr247Ala	rs765579778	missense variant	-	NC_000001.11:g.26794773A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu248Phe	rs750687040	missense variant	-	NC_000001.11:g.26794776C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu250Ile	rs780377617	missense variant	-	NC_000001.11:g.26794782C>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala253Thr	rs1047982800	missense variant	-	NC_000001.11:g.26794791G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu254Ile	rs755079722	missense variant	-	NC_000001.11:g.26794794C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Gln256Lys	RCV000001349	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794800C>A	ClinVar
PIGV	Q9NUD9	p.Gln256Lys	rs267606952	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794800C>A	UniProt,dbSNP
PIGV	Q9NUD9	p.Gln256Lys	VAR_064190	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26794800C>A	UniProt
PIGV	Q9NUD9	p.Gln256Lys	rs267606952	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26794800C>A	-
PIGV	Q9NUD9	p.Tyr257His	rs1228126006	missense variant	-	NC_000001.11:g.26794803T>C	gnomAD
PIGV	Q9NUD9	p.Thr261Ter	RCV000733944	frameshift	-	NC_000001.11:g.26794815dup	ClinVar
PIGV	Q9NUD9	p.Gln262His	rs769687257	missense variant	-	NC_000001.11:g.26794820A>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln262Arg	rs374660153	missense variant	-	NC_000001.11:g.26794819A>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln262His	rs769687257	missense variant	-	NC_000001.11:g.26794820A>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu265Pro	rs377225655	missense variant	-	NC_000001.11:g.26794828T>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser268Leu	rs1405637226	missense variant	-	NC_000001.11:g.26794837C>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg270His	RCV000600573	missense variant	-	NC_000001.11:g.26794843G>A	ClinVar
PIGV	Q9NUD9	p.Arg270His	rs149379900	missense variant	-	NC_000001.11:g.26794843G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg270Cys	rs374158705	missense variant	-	NC_000001.11:g.26794842C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg270Pro	rs149379900	missense variant	-	NC_000001.11:g.26794843G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg270Cys	RCV000373188	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794842C>T	ClinVar
PIGV	Q9NUD9	p.Pro275Thr	rs887914560	missense variant	-	NC_000001.11:g.26794857C>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Val281Ile	rs764811792	missense variant	-	NC_000001.11:g.26794875G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Asp282Gly	rs773648303	missense variant	-	NC_000001.11:g.26794879A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Lys283Arg	rs1480010905	missense variant	-	NC_000001.11:g.26794882A>G	gnomAD
PIGV	Q9NUD9	p.Gly284Asp	rs557206710	missense variant	-	NC_000001.11:g.26794885G>A	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly284Asp	RCV000278822	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26794885G>A	ClinVar
PIGV	Q9NUD9	p.Tyr285His	rs1421893600	missense variant	-	NC_000001.11:g.26794887T>C	gnomAD
PIGV	Q9NUD9	p.Tyr285Cys	RCV000594738	missense variant	-	NC_000001.11:g.26794888A>G	ClinVar
PIGV	Q9NUD9	p.Tyr285Cys	rs755167830	missense variant	-	NC_000001.11:g.26794888A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg286Trp	rs539783121	missense variant	-	NC_000001.11:g.26794890C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg286Gln	rs1471492464	missense variant	-	NC_000001.11:g.26794891G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile287Val	rs1426424430	missense variant	-	NC_000001.11:g.26794893A>G	gnomAD
PIGV	Q9NUD9	p.Ala288Val	rs1376564813	missense variant	-	NC_000001.11:g.26794897C>T	TOPMed
PIGV	Q9NUD9	p.Asn291Ser	rs147396061	missense variant	-	NC_000001.11:g.26794906A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn291Asp	rs1352879448	missense variant	-	NC_000001.11:g.26794905A>G	gnomAD
PIGV	Q9NUD9	p.Asn291Ser	RCV000422361	missense variant	-	NC_000001.11:g.26794906A>G	ClinVar
PIGV	Q9NUD9	p.Glu292Lys	rs1310524839	missense variant	-	NC_000001.11:g.26794908G>A	TOPMed
PIGV	Q9NUD9	p.Pro293Leu	rs200014772	missense variant	-	NC_000001.11:g.26794912C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Phe297Leu	rs1057518270	missense variant	-	NC_000001.11:g.26794925C>A	-
PIGV	Q9NUD9	p.Phe297Leu	RCV000413924	missense variant	-	NC_000001.11:g.26794925C>A	ClinVar
PIGV	Q9NUD9	p.Asp299Asn	rs1226968906	missense variant	-	NC_000001.11:g.26794929G>A	gnomAD
PIGV	Q9NUD9	p.Asp299Val	rs771852496	missense variant	-	NC_000001.11:g.26794930A>T	gnomAD
PIGV	Q9NUD9	p.Leu302Pro	rs780094407	missense variant	-	NC_000001.11:g.26794939T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu302Val	rs1360820696	missense variant	-	NC_000001.11:g.26794938C>G	gnomAD
PIGV	Q9NUD9	p.Tyr304His	rs768513225	missense variant	-	NC_000001.11:g.26794944T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Ile307Thr	rs370558069	missense variant	-	NC_000001.11:g.26794954T>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile307Val	rs1226460671	missense variant	-	NC_000001.11:g.26794953A>G	TOPMed
PIGV	Q9NUD9	p.Ile307Asn	rs370558069	missense variant	-	NC_000001.11:g.26794954T>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln308Arg	rs1234266577	missense variant	-	NC_000001.11:g.26794957A>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp309Tyr	rs1482975627	missense variant	-	NC_000001.11:g.26794959G>T	TOPMed
PIGV	Q9NUD9	p.Tyr311Cys	rs769517639	missense variant	-	NC_000001.11:g.26794966A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Trp312Cys	rs1162224599	missense variant	-	NC_000001.11:g.26794970G>T	TOPMed,gnomAD
PIGV	Q9NUD9	p.Trp312Arg	rs772709756	missense variant	-	NC_000001.11:g.26794968T>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Val314Ala	rs763425078	missense variant	-	NC_000001.11:g.26794975T>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly315Asp	rs199833588	missense variant	-	NC_000001.11:g.26794978G>A	1000Genomes,ExAC,gnomAD
PIGV	Q9NUD9	p.Tyr320Cys	rs148610857	missense variant	-	NC_000001.11:g.26794993A>G	ESP,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys323Arg	rs774991514	missense variant	-	NC_000001.11:g.26795002A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys323Thr	rs774991514	missense variant	-	NC_000001.11:g.26795002A>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln324Ter	rs373315999	stop gained	-	NC_000001.11:g.26795004C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln324Lys	rs373315999	missense variant	-	NC_000001.11:g.26795004C>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Val325Met	rs201084787	missense variant	-	NC_000001.11:g.26795007G>A	1000Genomes,ExAC,gnomAD
PIGV	Q9NUD9	p.Asn327Ser	rs142884955	missense variant	-	NC_000001.11:g.26795014A>G	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu329Gln	rs997028891	missense variant	-	NC_000001.11:g.26795020T>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro333Ser	rs1359389792	missense variant	-	NC_000001.11:g.26795031C>T	TOPMed
PIGV	Q9NUD9	p.Ala335Thr	rs753991047	missense variant	-	NC_000001.11:g.26795037G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ile336Val	rs758278375	missense variant	-	NC_000001.11:g.26795040A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile336Met	rs1057515437	missense variant	-	NC_000001.11:g.26795042A>G	-
PIGV	Q9NUD9	p.Ile336Met	RCV000338501	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26795042A>G	ClinVar
PIGV	Q9NUD9	p.Ala339Ser	rs1214680827	missense variant	-	NC_000001.11:g.26795049G>T	gnomAD
PIGV	Q9NUD9	p.Ala341Val	RCV000001350	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>T	ClinVar
PIGV	Q9NUD9	p.Ala341Glu	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795056C>A	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala341Glu	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>A	UniProt,dbSNP
PIGV	Q9NUD9	p.Ala341Glu	VAR_064191	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>A	UniProt
PIGV	Q9NUD9	p.Ala341Val	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795056C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala341Val	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795056C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ala341Val	rs139073416	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>T	UniProt,dbSNP
PIGV	Q9NUD9	p.Ala341Val	VAR_064192	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795056C>T	UniProt
PIGV	Q9NUD9	p.Ala341Glu	RCV000613584	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26795056C>A	ClinVar
PIGV	Q9NUD9	p.Thr344Arg	rs1202688840	missense variant	-	NC_000001.11:g.26795065C>G	gnomAD
PIGV	Q9NUD9	p.Thr344Ser	rs746747719	missense variant	-	NC_000001.11:g.26795064A>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Tyr345Ter	rs1289360702	stop gained	-	NC_000001.11:g.26795068dup	TOPMed,gnomAD
PIGV	Q9NUD9	p.Tyr345His	rs1052062433	missense variant	-	NC_000001.11:g.26795067T>C	TOPMed
PIGV	Q9NUD9	p.Val346Met	rs768120577	missense variant	-	NC_000001.11:g.26795070G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr347Ala	rs769166258	missense variant	-	NC_000001.11:g.26795073A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr348Ile	rs144053014	missense variant	-	NC_000001.11:g.26795077C>T	ESP
PIGV	Q9NUD9	p.His349Tyr	rs772977347	missense variant	-	NC_000001.11:g.26795079C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.His349Arg	rs796445275	missense variant	-	NC_000001.11:g.26795080A>G	gnomAD
PIGV	Q9NUD9	p.Leu354Val	rs1421801921	missense variant	-	NC_000001.11:g.26795094C>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu356Arg	rs988022455	missense variant	-	NC_000001.11:g.26795101T>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu356Pro	rs988022455	missense variant	-	NC_000001.11:g.26795101T>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser361Asn	rs748890495	missense variant	-	NC_000001.11:g.26795116G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Lys362Gln	rs376257064	missense variant	-	NC_000001.11:g.26795118A>C	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys362Gln	RCV000493284	missense variant	-	NC_000001.11:g.26795118A>C	ClinVar
PIGV	Q9NUD9	p.Lys362Glu	rs376257064	missense variant	-	NC_000001.11:g.26795118A>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asn363Lys	rs904668661	missense variant	-	NC_000001.11:g.26795123C>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys365Glu	rs1316594177	missense variant	-	NC_000001.11:g.26795127A>G	gnomAD
PIGV	Q9NUD9	p.Thr366Asn	rs774871967	missense variant	-	NC_000001.11:g.26795131C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr366Ile	rs774871967	missense variant	-	NC_000001.11:g.26795131C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu367Ile	rs772740992	missense variant	-	NC_000001.11:g.26795133C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu367Pro	rs1343172835	missense variant	-	NC_000001.11:g.26795134T>C	gnomAD
PIGV	Q9NUD9	p.Pro370Ser	rs776115008	missense variant	-	NC_000001.11:g.26795142C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Asp371Asn	rs764074675	missense variant	-	NC_000001.11:g.26795145G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp371His	rs764074675	missense variant	-	NC_000001.11:g.26795145G>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser376Gly	rs753887088	missense variant	-	NC_000001.11:g.26795160A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro377Leu	rs1420244341	missense variant	-	NC_000001.11:g.26795164C>T	TOPMed
PIGV	Q9NUD9	p.Gln378Arg	rs1034061662	missense variant	-	NC_000001.11:g.26795167A>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Val381Leu	rs1179780840	missense variant	-	NC_000001.11:g.26795175G>C	gnomAD
PIGV	Q9NUD9	p.Tyr382Cys	rs1283234892	missense variant	-	NC_000001.11:g.26795179A>G	gnomAD
PIGV	Q9NUD9	p.Val383Met	RCV000521023	missense variant	-	NC_000001.11:g.26795181G>A	ClinVar
PIGV	Q9NUD9	p.Val383Met	rs765449173	missense variant	-	NC_000001.11:g.26795181G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His385Gln	rs200817594	missense variant	-	NC_000001.11:g.26795189C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His385Tyr	rs751387512	missense variant	-	NC_000001.11:g.26795187C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.His385Pro	rs267606951	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795188A>C	UniProt,dbSNP
PIGV	Q9NUD9	p.His385Pro	VAR_064193	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795188A>C	UniProt
PIGV	Q9NUD9	p.His385Pro	rs267606951	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (hpmrs1)	NC_000001.11:g.26795188A>C	ExAC,gnomAD
PIGV	Q9NUD9	p.His385Pro	RCV000001348	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26795188A>C	ClinVar
PIGV	Q9NUD9	p.Ala386Thr	rs1430247948	missense variant	-	NC_000001.11:g.26795190G>A	gnomAD
PIGV	Q9NUD9	p.Ala387Val	rs1396350236	missense variant	-	NC_000001.11:g.26795194C>T	TOPMed
PIGV	Q9NUD9	p.Leu391Pro	rs374617474	missense variant	-	NC_000001.11:g.26795206T>C	ESP,ExAC,gnomAD
PIGV	Q9NUD9	p.Phe392Leu	rs748777160	missense variant	-	NC_000001.11:g.26795210T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu395Val	rs1014330215	missense variant	-	NC_000001.11:g.26795217C>G	TOPMed
PIGV	Q9NUD9	p.Met397Val	rs778672695	missense variant	-	NC_000001.11:g.26795223A>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Val401Ile	rs767296371	missense variant	-	NC_000001.11:g.26797563G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Arg404Thr	rs907205232	missense variant	-	NC_000001.11:g.26797573G>C	TOPMed
PIGV	Q9NUD9	p.Phe405Leu	rs1057515509	missense variant	-	NC_000001.11:g.26797575T>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe405Ile	RCV000391703	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26797575T>A	ClinVar
PIGV	Q9NUD9	p.Phe405Ile	rs1057515509	missense variant	-	NC_000001.11:g.26797575T>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly407Ala	rs1330977790	missense variant	-	NC_000001.11:g.26797582G>C	TOPMed
PIGV	Q9NUD9	p.Gly407Ser	rs752424976	missense variant	-	NC_000001.11:g.26797581G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Gly407Ala	RCV000524036	missense variant	-	NC_000001.11:g.26797582G>C	ClinVar
PIGV	Q9NUD9	p.Thr410Ser	rs777720578	missense variant	-	NC_000001.11:g.26797590A>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile412Thr	rs1452161183	missense variant	-	NC_000001.11:g.26797597T>C	TOPMed
PIGV	Q9NUD9	p.Met413Ile	rs1335917148	missense variant	-	NC_000001.11:g.26797601G>A	gnomAD
PIGV	Q9NUD9	p.Met413Leu	rs753323479	missense variant	-	NC_000001.11:g.26797599A>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Trp415Cys	rs1009015375	missense variant	-	NC_000001.11:g.26797607G>T	gnomAD
PIGV	Q9NUD9	p.Trp415Ter	rs1009015375	stop gained	-	NC_000001.11:g.26797607G>A	gnomAD
PIGV	Q9NUD9	p.Pro417Thr	rs756764882	missense variant	-	NC_000001.11:g.26797611C>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ala418Asp	rs1271144650	missense variant	-	NC_000001.11:g.26797615C>A	TOPMed
PIGV	Q9NUD9	p.His419Asn	rs778762487	missense variant	-	NC_000001.11:g.26797617C>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.His419Asp	rs778762487	missense variant	-	NC_000001.11:g.26797617C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp423Asn	rs745507329	missense variant	-	NC_000001.11:g.26797629G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro426Leu	RCV000294158	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26797639C>T	ClinVar
PIGV	Q9NUD9	p.Pro426Leu	rs146969255	missense variant	-	NC_000001.11:g.26797639C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Pro426Leu	RCV000178312	missense variant	-	NC_000001.11:g.26797639C>T	ClinVar
PIGV	Q9NUD9	p.Pro426Leu	RCV000724080	missense variant	-	NC_000001.11:g.26797639C>T	ClinVar
PIGV	Q9NUD9	p.Arg429Lys	rs747348693	missense variant	-	NC_000001.11:g.26797648G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Ser430Pro	rs769074339	missense variant	-	NC_000001.11:g.26797650T>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Lys432Thr	rs758118607	missense variant	-	NC_000001.11:g.26797657A>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Val434Met	rs143081680	missense variant	-	NC_000001.11:g.26797662G>A	ESP,ExAC,TOPMed
PIGV	Q9NUD9	p.Pro435Ser	rs773491605	missense variant	-	NC_000001.11:g.26797665C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Lys437Arg	rs763168434	missense variant	-	NC_000001.11:g.26797672A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro438Leu	RCV000494191	missense variant	-	NC_000001.11:g.26797675C>T	ClinVar
PIGV	Q9NUD9	p.Pro438Leu	rs766533625	missense variant	-	NC_000001.11:g.26797675C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu439Val	rs1166734973	missense variant	-	NC_000001.11:g.26797677C>G	gnomAD
PIGV	Q9NUD9	p.Ala440Thr	rs1013076880	missense variant	-	NC_000001.11:g.26797680G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Asp442Tyr	rs201804133	missense variant	-	NC_000001.11:g.26797686G>T	1000Genomes,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser443Phe	rs760482425	missense variant	-	NC_000001.11:g.26797690C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro444Leu	rs763982792	missense variant	-	NC_000001.11:g.26797693C>T	ExAC,gnomAD
PIGV	Q9NUD9	p.Pro445Ser	rs370891890	missense variant	-	NC_000001.11:g.26797695C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gln447Glu	rs966434689	missense variant	-	NC_000001.11:g.26797701C>G	TOPMed
PIGV	Q9NUD9	p.Lys448Arg	rs1324547284	missense variant	-	NC_000001.11:g.26797705A>G	gnomAD
PIGV	Q9NUD9	p.Asn452Ser	rs531599538	missense variant	-	NC_000001.11:g.26797717A>G	TOPMed
PIGV	Q9NUD9	p.Asn452His	rs977742727	missense variant	-	NC_000001.11:g.26797716A>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Ile454Met	rs1180105021	missense variant	-	NC_000001.11:g.26797724C>G	TOPMed
PIGV	Q9NUD9	p.Ile454Leu	rs756890344	missense variant	-	NC_000001.11:g.26797722A>C	ExAC,gnomAD
PIGV	Q9NUD9	p.Ile454Asn	rs764840970	missense variant	-	NC_000001.11:g.26797723T>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Met455Thr	rs749892627	missense variant	-	NC_000001.11:g.26797726T>C	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly456Arg	rs957961816	missense variant	-	NC_000001.11:g.26797728G>A	TOPMed
PIGV	Q9NUD9	p.Leu457Phe	rs143676075	missense variant	-	NC_000001.11:g.26797731C>T	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu457Phe	RCV000765108	missense variant	Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1)	NC_000001.11:g.26797731C>T	ClinVar
PIGV	Q9NUD9	p.Leu457Phe	RCV000490215	missense variant	-	NC_000001.11:g.26797731C>T	ClinVar
PIGV	Q9NUD9	p.Trp461Arg	rs150563150	missense variant	-	NC_000001.11:g.26797743T>C	ESP,gnomAD
PIGV	Q9NUD9	p.Trp461Ter	rs747373591	stop gained	-	NC_000001.11:g.26797744G>A	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr463Ile	rs755347942	missense variant	-	NC_000001.11:g.26797750C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Ser465Phe	rs1191872813	missense variant	-	NC_000001.11:g.26797756C>T	gnomAD
PIGV	Q9NUD9	p.Val467Gly	rs748685118	missense variant	-	NC_000001.11:g.26797762T>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Thr468Arg	rs1463066620	missense variant	-	NC_000001.11:g.26797765C>G	TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg469Gln	rs1045854988	missense variant	-	NC_000001.11:g.26797768G>A	TOPMed
PIGV	Q9NUD9	p.Arg469Gly	rs770220740	missense variant	-	NC_000001.11:g.26797767C>G	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Arg469Ter	rs770220740	stop gained	-	NC_000001.11:g.26797767C>T	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Tyr470Cys	rs1327869506	missense variant	-	NC_000001.11:g.26797771A>G	TOPMed
PIGV	Q9NUD9	p.Ile471Val	rs749320195	missense variant	-	NC_000001.11:g.26797773A>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu472Pro	RCV000479838	missense variant	-	NC_000001.11:g.26797777T>C	ClinVar
PIGV	Q9NUD9	p.Leu472Val	rs771177205	missense variant	-	NC_000001.11:g.26797776C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.Leu472Pro	rs774605091	missense variant	-	NC_000001.11:g.26797777T>C	ExAC,TOPMed
PIGV	Q9NUD9	p.Phe475Leu	rs549740566	missense variant	-	NC_000001.11:g.26797787C>G	gnomAD
PIGV	Q9NUD9	p.Thr477Ile	rs940048236	missense variant	-	NC_000001.11:g.26797792C>T	TOPMed
PIGV	Q9NUD9	p.Tyr478Cys	rs1358703459	missense variant	-	NC_000001.11:g.26797795A>G	TOPMed
PIGV	Q9NUD9	p.Trp479Arg	rs1296165102	missense variant	-	NC_000001.11:g.26797797T>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Trp479Ter	rs1327167208	stop gained	-	NC_000001.11:g.26797799G>A	gnomAD
PIGV	Q9NUD9	p.Gly482Arg	rs761689645	missense variant	-	NC_000001.11:g.26797806G>A	ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly482Glu	rs1204745319	missense variant	-	NC_000001.11:g.26797807G>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Gly482Ala	rs1204745319	missense variant	-	NC_000001.11:g.26797807G>C	TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu483Arg	rs149327962	missense variant	-	NC_000001.11:g.26797810T>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Leu483Val	rs765175813	missense variant	-	NC_000001.11:g.26797809C>G	ExAC,gnomAD
PIGV	Q9NUD9	p.His486Arg	rs1196564368	missense variant	-	NC_000001.11:g.26797819A>G	gnomAD
PIGV	Q9NUD9	p.Asn488Lys	rs973687848	missense variant	-	NC_000001.11:g.26797826C>A	TOPMed,gnomAD
PIGV	Q9NUD9	p.Phe489Leu	rs146467198	missense variant	-	NC_000001.11:g.26797829C>G	ESP,ExAC,TOPMed,gnomAD
PIGV	Q9NUD9	p.Thr493Ala	rs1057515548	missense variant	-	NC_000001.11:g.26797839A>G	TOPMed
PIGV	Q9NUD9	p.Thr493Ala	RCV000403426	missense variant	Hyperphosphatasia-intellectual disability syndrome	NC_000001.11:g.26797839A>G	ClinVar
PIGV	Q9NUD9	p.Thr493Ile	rs1177767124	missense variant	-	NC_000001.11:g.26797840C>T	gnomAD
PIGV	Q9NUD9	p.Ter494Ser	rs748710132	stop lost	-	NC_000001.11:g.26797843G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ser4Tyr	rs1220232473	missense variant	-	NC_000011.10:g.12377658C>A	gnomAD
PARVA	Q9NVD7	p.Ser4Thr	rs769301976	missense variant	-	NC_000011.10:g.12377657T>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Pro5Gln	rs1285740843	missense variant	-	NC_000011.10:g.12377661C>A	TOPMed
PARVA	Q9NVD7	p.Pro5Arg	rs1285740843	missense variant	-	NC_000011.10:g.12377661C>G	TOPMed
PARVA	Q9NVD7	p.Gln6Leu	rs1192644696	missense variant	-	NC_000011.10:g.12377664A>T	gnomAD
PARVA	Q9NVD7	p.Val11Leu	rs1157026012	missense variant	-	NC_000011.10:g.12377678G>C	gnomAD
PARVA	Q9NVD7	p.Pro12Ser	rs1417505146	missense variant	-	NC_000011.10:g.12377681C>T	gnomAD
PARVA	Q9NVD7	p.Lys13Arg	rs763274857	missense variant	-	NC_000011.10:g.12377685A>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Ser14Pro	rs767292001	missense variant	-	NC_000011.10:g.12377687T>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Pro15Ser	rs1457800171	missense variant	-	NC_000011.10:g.12377690C>T	gnomAD
PARVA	Q9NVD7	p.Thr16Asn	rs1301906730	missense variant	-	NC_000011.10:g.12377694C>A	gnomAD
PARVA	Q9NVD7	p.Pro17Ala	rs752541701	missense variant	-	NC_000011.10:g.12377696C>G	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Lys18Met	rs375770268	missense variant	-	NC_000011.10:g.12377700A>T	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Lys18Asn	rs1323144712	missense variant	-	NC_000011.10:g.12377701G>C	gnomAD
PARVA	Q9NVD7	p.Lys18Arg	rs375770268	missense variant	-	NC_000011.10:g.12377700A>G	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ser19Leu	rs766031142	missense variant	-	NC_000011.10:g.12377703C>T	TOPMed
PARVA	Q9NVD7	p.Pro20Ser	rs1370760557	missense variant	-	NC_000011.10:g.12377705C>T	gnomAD
PARVA	Q9NVD7	p.Pro21Ala	rs753342433	missense variant	-	NC_000011.10:g.12377708C>G	ExAC
PARVA	Q9NVD7	p.Pro21Leu	rs756702517	missense variant	-	NC_000011.10:g.12377709C>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ser22Phe	rs778529124	missense variant	-	NC_000011.10:g.12377712C>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Phe29Leu	rs745506221	missense variant	-	NC_000011.10:g.12377732T>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Gly31Glu	rs780508269	missense variant	-	NC_000011.10:g.12377739G>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu33Val	rs747384550	missense variant	-	NC_000011.10:g.12377744C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Arg34Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12377628G>T	NCI-TCGA
PARVA	Q9NVD7	p.Ser36ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.12377634_12377646GCCTGCGCCGCGC>-	NCI-TCGA
PARVA	Q9NVD7	p.Ala38Thr	rs1178321351	missense variant	-	NC_000011.10:g.12377759G>A	TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg39Trp	rs1239016920	missense variant	-	NC_000011.10:g.12377762C>T	gnomAD
PARVA	Q9NVD7	p.Lys41Arg	rs1476655846	missense variant	-	NC_000011.10:g.12377769A>G	TOPMed
PARVA	Q9NVD7	p.Ala43Gly	rs777298176	missense variant	-	NC_000011.10:g.12377775C>G	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ala43Val	rs777298176	missense variant	-	NC_000011.10:g.12377775C>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Lys44Arg	rs748736247	missense variant	-	NC_000011.10:g.12377778A>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Glu45Lys	rs769731405	missense variant	-	NC_000011.10:g.12377780G>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Val46Ala	rs776551308	missense variant	-	NC_000011.10:g.12473745T>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ser47Phe	rs986893634	missense variant	-	NC_000011.10:g.12473748C>T	TOPMed
PARVA	Q9NVD7	p.Glu48Ter	rs544299880	stop gained	-	NC_000011.10:g.12473750G>T	1000Genomes,TOPMed,gnomAD
PARVA	Q9NVD7	p.Glu48Lys	rs544299880	missense variant	-	NC_000011.10:g.12473750G>A	1000Genomes,TOPMed,gnomAD
PARVA	Q9NVD7	p.Glu48Gln	rs544299880	missense variant	-	NC_000011.10:g.12473750G>C	1000Genomes,TOPMed,gnomAD
PARVA	Q9NVD7	p.Gln50His	rs765226403	missense variant	-	NC_000011.10:g.12473758G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Gln50Leu	rs879087779	missense variant	-	NC_000011.10:g.12473757A>T	gnomAD
PARVA	Q9NVD7	p.Glu51Lys	rs1323918323	missense variant	-	NC_000011.10:g.12473759G>A	TOPMed,gnomAD
PARVA	Q9NVD7	p.Met54Leu	rs749863211	missense variant	-	NC_000011.10:g.12473768A>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Asn55Ser	rs766034564	missense variant	-	NC_000011.10:g.12473772A>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Asn55His	rs762576100	missense variant	-	NC_000011.10:g.12473771A>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Asn55Lys	rs368993521	missense variant	-	NC_000011.10:g.12473773C>G	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ala56Thr	rs781396749	missense variant	-	NC_000011.10:g.12473774G>A	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ala56Ser	rs781396749	missense variant	-	NC_000011.10:g.12473774G>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ala56Gly	rs756508908	missense variant	-	NC_000011.10:g.12473775C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Ile57Met	rs778371739	missense variant	-	NC_000011.10:g.12473779C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu59Val	rs770968884	missense variant	-	NC_000011.10:g.12473783C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Pro60Ala	rs779035052	missense variant	-	NC_000011.10:g.12473786C>G	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Pro60Ser	rs779035052	missense variant	-	NC_000011.10:g.12473786C>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Leu61Phe	rs772353437	missense variant	-	NC_000011.10:g.12473789C>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Ser62Ile	rs776223328	missense variant	-	NC_000011.10:g.12473793G>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Ile64Thr	rs372841567	missense variant	-	NC_000011.10:g.12473799T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ile64Val	rs1392679695	missense variant	-	NC_000011.10:g.12473798A>G	gnomAD
PARVA	Q9NVD7	p.Phe66Ser	rs1446931851	missense variant	-	NC_000011.10:g.12473805T>C	TOPMed
PARVA	Q9NVD7	p.Asp67Tyr	COSM924300	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12377726G>T	NCI-TCGA Cosmic
PARVA	Q9NVD7	p.Leu68Val	rs577607738	missense variant	-	NC_000011.10:g.12473810C>G	1000Genomes
PARVA	Q9NVD7	p.Pro70Leu	rs1329638947	missense variant	-	NC_000011.10:g.12473817C>T	gnomAD
PARVA	Q9NVD7	p.Glu71Lys	rs138341373	missense variant	-	NC_000011.10:g.12473819G>A	1000Genomes,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Thr73Met	rs559971958	missense variant	-	NC_000011.10:g.12473826C>T	1000Genomes,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Met74Ile	rs1266529204	missense variant	-	NC_000011.10:g.12473830G>A	gnomAD
PARVA	Q9NVD7	p.Glu76Asp	rs757823145	missense variant	-	NC_000011.10:g.12473914G>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Asn78Lys	rs1319004986	missense variant	-	NC_000011.10:g.12473920T>A	gnomAD
PARVA	Q9NVD7	p.Glu79Asp	rs778910290	missense variant	-	NC_000011.10:g.12473923G>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Val80Leu	rs1260852693	missense variant	-	NC_000011.10:g.12473924G>T	gnomAD
PARVA	Q9NVD7	p.Arg81Ter	rs758509655	stop gained	-	NC_000011.10:g.12473927C>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Met83Leu	rs1258207266	missense variant	-	NC_000011.10:g.12473933A>T	gnomAD
PARVA	Q9NVD7	p.Met83Leu	rs1258207266	missense variant	-	NC_000011.10:g.12473933A>C	gnomAD
PARVA	Q9NVD7	p.Val84Met	rs1426641587	missense variant	-	NC_000011.10:g.12473936G>A	TOPMed
PARVA	Q9NVD7	p.Lys84Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12377777A>G	NCI-TCGA
PARVA	Q9NVD7	p.Pro86Leu	rs1426621846	missense variant	-	NC_000011.10:g.12473943C>T	gnomAD
PARVA	Q9NVD7	p.Ser88Leu	rs1478670470	missense variant	-	NC_000011.10:g.12473949C>T	gnomAD
PARVA	Q9NVD7	p.Arg89Cys	rs780347455	missense variant	-	NC_000011.10:g.12473951C>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg89Gly	rs780347455	missense variant	-	NC_000011.10:g.12473951C>G	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg89His	rs972422207	missense variant	-	NC_000011.10:g.12473952G>A	TOPMed,gnomAD
PARVA	Q9NVD7	p.Ser90Gly	rs1303455316	missense variant	-	NC_000011.10:g.12473954A>G	gnomAD
PARVA	Q9NVD7	p.Asp91Glu	rs1398743718	missense variant	-	NC_000011.10:g.12473959C>G	gnomAD
PARVA	Q9NVD7	p.Asp91Val	rs375241379	missense variant	-	NC_000011.10:g.12473958A>T	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Asp91Glu	rs1398743718	missense variant	-	NC_000011.10:g.12473959C>A	gnomAD
PARVA	Q9NVD7	p.Pro92Thr	rs1344358069	missense variant	-	NC_000011.10:g.12473960C>A	gnomAD
PARVA	Q9NVD7	p.Pro92Leu	rs1386782360	missense variant	-	NC_000011.10:g.12473961C>T	gnomAD
PARVA	Q9NVD7	p.Leu94Val	rs1341585791	missense variant	-	NC_000011.10:g.12473966C>G	gnomAD
PARVA	Q9NVD7	p.Leu94Phe	rs1341585791	missense variant	-	NC_000011.10:g.12473966C>T	gnomAD
PARVA	Q9NVD7	p.Gln95His	rs773207205	missense variant	-	NC_000011.10:g.12473971A>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Gln95Arg	rs1298749730	missense variant	-	NC_000011.10:g.12473970A>G	gnomAD
PARVA	Q9NVD7	p.Ala96Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12473775C>T	NCI-TCGA
PARVA	Q9NVD7	p.Glu96Ter	rs749224463	stop gained	-	NC_000011.10:g.12473972G>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Ile102Thr	rs369665356	missense variant	-	NC_000011.10:g.12477854T>C	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Trp104Cys	rs1374122018	missense variant	-	NC_000011.10:g.12477861G>T	gnomAD
PARVA	Q9NVD7	p.Leu109Phe	rs776941305	missense variant	-	NC_000011.10:g.12477876G>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Leu109Phe	rs776941305	missense variant	-	NC_000011.10:g.12477876G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Val110Ala	rs920537205	missense variant	-	NC_000011.10:g.12477878T>C	gnomAD
PARVA	Q9NVD7	p.Val110Ile	rs879121302	missense variant	-	NC_000011.10:g.12477877G>A	TOPMed
PARVA	Q9NVD7	p.Gly111Glu	rs762189104	missense variant	-	NC_000011.10:g.12477881G>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Glu112Asp	rs765640969	missense variant	-	NC_000011.10:g.12477885A>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Glu112Lys	rs1378439774	missense variant	-	NC_000011.10:g.12477883G>A	gnomAD
PARVA	Q9NVD7	p.Glu116Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12473913A>T	NCI-TCGA
PARVA	Q9NVD7	p.Val116Glu	rs763435438	missense variant	-	NC_000011.10:g.12477896T>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Asp118Asn	rs1435372824	missense variant	-	NC_000011.10:g.12477901G>A	TOPMed
PARVA	Q9NVD7	p.Ala120Asp	rs1456574035	missense variant	-	NC_000011.10:g.12477908C>A	gnomAD
PARVA	Q9NVD7	p.Leu123Phe	rs1238918687	missense variant	-	NC_000011.10:g.12477918G>C	gnomAD
PARVA	Q9NVD7	p.Leu123Met	rs751603811	missense variant	-	NC_000011.10:g.12477916T>A	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Tyr124Cys	rs879179495	missense variant	-	NC_000011.10:g.12477920A>G	TOPMed,gnomAD
PARVA	Q9NVD7	p.Val128Ile	rs1180694478	missense variant	-	NC_000011.10:g.12477931G>A	gnomAD
PARVA	Q9NVD7	p.Gln130Glu	rs1166715120	missense variant	-	NC_000011.10:g.12477937C>G	TOPMed
PARVA	Q9NVD7	p.Pro132His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12473961C>A	NCI-TCGA
PARVA	Q9NVD7	p.Glu134Lys	rs781591602	missense variant	-	NC_000011.10:g.12477949G>A	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Glu134Gln	rs781591602	missense variant	-	NC_000011.10:g.12477949G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Leu136Val	rs775728652	missense variant	-	NC_000011.10:g.12496463C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Glu137Lys	rs529866610	missense variant	-	NC_000011.10:g.12496466G>A	1000Genomes,ExAC,gnomAD
PARVA	Q9NVD7	p.Ser138Asn	rs750187645	missense variant	-	NC_000011.10:g.12496470G>A	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ser138Thr	rs750187645	missense variant	-	NC_000011.10:g.12496470G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Leu141Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12477852A>C	NCI-TCGA
PARVA	Q9NVD7	p.Gln148Lys	rs766240351	missense variant	-	NC_000011.10:g.12496499C>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Ile154Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12477889A>G	NCI-TCGA
PARVA	Q9NVD7	p.Val160Ile	rs747657632	missense variant	-	NC_000011.10:g.12496535G>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Lys163Arg	rs1209552551	missense variant	-	NC_000011.10:g.12496545A>G	gnomAD
PARVA	Q9NVD7	p.Ile164Val	rs1321153643	missense variant	-	NC_000011.10:g.12496547A>G	gnomAD
PARVA	Q9NVD7	p.Asn165Lys	rs777313656	missense variant	-	NC_000011.10:g.12496552T>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Glu166Asp	rs878967278	missense variant	-	NC_000011.10:g.12496555A>C	TOPMed
PARVA	Q9NVD7	p.Glu166Ala	rs771167622	missense variant	-	NC_000011.10:g.12496554A>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Glu166Lys	rs749018187	missense variant	-	NC_000011.10:g.12496553G>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu168Pro	rs746321591	missense variant	-	NC_000011.10:g.12496560T>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Lys169Ile	rs772712254	missense variant	-	NC_000011.10:g.12496563A>T	ExAC
PARVA	Q9NVD7	p.Pro172Ser	rs374458438	missense variant	-	NC_000011.10:g.12496571C>T	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg173Gly	rs1163578533	missense variant	-	NC_000011.10:g.12496574A>G	gnomAD
PARVA	Q9NVD7	p.Arg173Ser	rs1395537456	missense variant	-	NC_000011.10:g.12496576G>T	gnomAD
PARVA	Q9NVD7	p.Asp180Asn	rs1463251238	missense variant	-	NC_000011.10:g.12496595G>A	gnomAD
PARVA	Q9NVD7	p.Ser181Cys	rs1398469057	missense variant	-	NC_000011.10:g.12504314C>G	gnomAD
PARVA	Q9NVD7	p.Val182Leu	rs1007756485	missense variant	-	NC_000011.10:g.12504316G>C	TOPMed
PARVA	Q9NVD7	p.Lys185Asn	rs756989956	missense variant	-	NC_000011.10:g.12504327G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Leu187Arg	rs1315546563	missense variant	-	NC_000011.10:g.12504332T>G	TOPMed
PARVA	Q9NVD7	p.Ser189Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.12496503C>A	NCI-TCGA
PARVA	Q9NVD7	p.Ile190Thr	rs1201027192	missense variant	-	NC_000011.10:g.12504341T>C	gnomAD
PARVA	Q9NVD7	p.Ile190Met	rs772658955	missense variant	-	NC_000011.10:g.12504342C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.His192Asn	rs1487192385	missense variant	-	NC_000011.10:g.12504346C>A	gnomAD
PARVA	Q9NVD7	p.His192Gln	rs1224116366	missense variant	-	NC_000011.10:g.12504348C>A	TOPMed
PARVA	Q9NVD7	p.Leu194Val	rs1192602623	missense variant	-	NC_000011.10:g.12504352C>G	gnomAD
PARVA	Q9NVD7	p.Val195Ile	rs139671632	missense variant	-	NC_000011.10:g.12504355G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ala196Thr	rs1393331064	missense variant	-	NC_000011.10:g.12504358G>A	TOPMed
PARVA	Q9NVD7	p.Lys196AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.12496521A>-	NCI-TCGA
PARVA	Q9NVD7	p.Leu197Gln	rs1376050330	missense variant	-	NC_000011.10:g.12504362T>A	gnomAD
PARVA	Q9NVD7	p.Gln199Arg	rs1174821611	missense variant	-	NC_000011.10:g.12504368A>G	gnomAD
PARVA	Q9NVD7	p.Gln199His	rs368255590	missense variant	-	NC_000011.10:g.12504369G>T	ESP,ExAC,gnomAD
PARVA	Q9NVD7	p.Leu201Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12496538C>A	NCI-TCGA
PARVA	Q9NVD7	p.Arg202Cys	rs774089763	missense variant	-	NC_000011.10:g.12504376C>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg202His	rs200911218	missense variant	-	NC_000011.10:g.12504377G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ala203Thr	rs752598937	missense variant	-	NC_000011.10:g.12504379G>A	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ile205Asn	rs1376248453	missense variant	-	NC_000011.10:g.12504386T>A	TOPMed
PARVA	Q9NVD7	p.Ile205Val	rs567869261	missense variant	-	NC_000011.10:g.12504385A>G	1000Genomes,ExAC,gnomAD
PARVA	Q9NVD7	p.Arg206Gln	rs763496973	missense variant	-	NC_000011.10:g.12504389G>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu208Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12496559C>A	NCI-TCGA
PARVA	Q9NVD7	p.Asp209Glu	rs781246322	missense variant	-	NC_000011.10:g.12504399C>A	TOPMed
PARVA	Q9NVD7	p.Val211Ile	rs756821180	missense variant	-	NC_000011.10:g.12504403G>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Gln214His	rs778731820	missense variant	-	NC_000011.10:g.12504414A>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ser214Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12496578G>T	NCI-TCGA
PARVA	Q9NVD7	p.Val215Met	rs1188574643	missense variant	-	NC_000011.10:g.12504415G>A	gnomAD
PARVA	Q9NVD7	p.Val216Leu	rs758808635	missense variant	-	NC_000011.10:g.12504418G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg221Ter	rs1464842307	stop gained	-	NC_000011.10:g.12508587C>T	TOPMed
PARVA	Q9NVD7	p.Arg221Leu	rs537951619	missense variant	-	NC_000011.10:g.12508588G>T	1000Genomes,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg221Gln	rs537951619	missense variant	-	NC_000011.10:g.12508588G>A	1000Genomes,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Glu222Gly	rs879108461	missense variant	-	NC_000011.10:g.12508591A>G	gnomAD
PARVA	Q9NVD7	p.Gly223Arg	rs1043174766	missense variant	-	NC_000011.10:g.12508593G>A	gnomAD
PARVA	Q9NVD7	p.Leu225Phe	rs781731843	missense variant	-	NC_000011.10:g.12508599C>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Gln226Arg	rs759540544	missense variant	-	NC_000011.10:g.12508603A>G	gnomAD
PARVA	Q9NVD7	p.Arg228Pro	rs765042412	missense variant	-	NC_000011.10:g.12508609G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg228Trp	rs149031199	missense variant	-	NC_000011.10:g.12508608C>T	1000Genomes,ExAC,gnomAD
PARVA	Q9NVD7	p.Arg228Gln	rs765042412	missense variant	-	NC_000011.10:g.12508609G>A	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ile230Val	rs1311794482	missense variant	-	NC_000011.10:g.12508614A>G	gnomAD
PARVA	Q9NVD7	p.Ile230Met	rs1335215698	missense variant	-	NC_000011.10:g.12508616C>G	gnomAD
PARVA	Q9NVD7	p.Ile230Phe	rs1311794482	missense variant	-	NC_000011.10:g.12508614A>T	gnomAD
PARVA	Q9NVD7	p.Gln231Arg	rs1234197930	missense variant	-	NC_000011.10:g.12508618A>G	gnomAD
PARVA	Q9NVD7	p.Ile234Val	rs771152861	missense variant	-	NC_000011.10:g.12508626A>G	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ile234Met	rs937843581	missense variant	-	NC_000011.10:g.12508628A>G	TOPMed,gnomAD
PARVA	Q9NVD7	p.Thr235Ser	rs775110168	missense variant	-	NC_000011.10:g.12508630C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Thr238Ile	rs1262204452	missense variant	-	NC_000011.10:g.12508639C>T	TOPMed
PARVA	Q9NVD7	p.Thr238Arg	rs1262204452	missense variant	-	NC_000011.10:g.12508639C>G	TOPMed
PARVA	Q9NVD7	p.Thr238Ala	rs1203843818	missense variant	-	NC_000011.10:g.12508638A>G	gnomAD
PARVA	Q9NVD7	p.Glu239Asp	rs748042946	missense variant	-	NC_000011.10:g.12511514G>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu241Val	rs769861601	missense variant	-	NC_000011.10:g.12511518C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Arg242AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.12504375C>-	NCI-TCGA
PARVA	Q9NVD7	p.Arg242Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12504377G>T	NCI-TCGA
PARVA	Q9NVD7	p.Gly243Arg	rs202042601	missense variant	-	NC_000011.10:g.12511524G>A	1000Genomes,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Pro244Arg	COSM4019025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12504383C>G	NCI-TCGA Cosmic
PARVA	Q9NVD7	p.Pro244Gln	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12504383C>A	NCI-TCGA
PARVA	Q9NVD7	p.Arg244Lys	rs766032343	missense variant	-	NC_000011.10:g.12511528G>A	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg247Cys	rs946882037	missense variant	-	NC_000011.10:g.12513301C>T	gnomAD
PARVA	Q9NVD7	p.Arg247Pro	rs1216380128	missense variant	-	NC_000011.10:g.12513302G>C	TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg247His	rs1216380128	missense variant	-	NC_000011.10:g.12513302G>A	TOPMed,gnomAD
PARVA	Q9NVD7	p.Ala249Ser	rs1250320095	missense variant	-	NC_000011.10:g.12513307G>T	gnomAD
PARVA	Q9NVD7	p.Leu253Met	rs1286000429	missense variant	-	NC_000011.10:g.12513319T>A	TOPMed
PARVA	Q9NVD7	p.Asp255Asn	rs1276340670	missense variant	-	NC_000011.10:g.12513325G>A	gnomAD
PARVA	Q9NVD7	p.His256Arg	rs370886582	missense variant	-	NC_000011.10:g.12513329A>G	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Pro258Ser	rs1188335688	missense variant	-	NC_000011.10:g.12513334C>T	gnomAD
PARVA	Q9NVD7	p.Asp259Gly	rs776996628	missense variant	-	NC_000011.10:g.12513338A>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Asn262Ser	rs1332732045	missense variant	-	NC_000011.10:g.12513347A>G	TOPMed
PARVA	Q9NVD7	p.Lys265Ile	rs1191282183	missense variant	-	NC_000011.10:g.12513356A>T	gnomAD
PARVA	Q9NVD7	p.Leu265Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12508599C>A	NCI-TCGA
PARVA	Q9NVD7	p.Lys266Met	rs1197617218	missense variant	-	NC_000011.10:g.12513359A>T	TOPMed,gnomAD
PARVA	Q9NVD7	p.Thr267Arg	rs755802130	missense variant	-	NC_000011.10:g.12513998C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu268Pro	rs749693080	missense variant	-	NC_000011.10:g.12514001T>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu268His	rs749693080	missense variant	-	NC_000011.10:g.12514001T>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Ile269Val	rs1360033127	missense variant	-	NC_000011.10:g.12514003A>G	gnomAD
PARVA	Q9NVD7	p.Val272Met	rs1268169066	missense variant	-	NC_000011.10:g.12514012G>A	TOPMed
PARVA	Q9NVD7	p.Lys274Asn	rs1344980053	missense variant	-	NC_000011.10:g.12514020G>T	TOPMed,gnomAD
PARVA	Q9NVD7	p.Leu276Val	rs1331498561	missense variant	-	NC_000011.10:g.12514024C>G	TOPMed
PARVA	Q9NVD7	p.Asn280Ser	rs1211883837	missense variant	-	NC_000011.10:g.12514037A>G	gnomAD
PARVA	Q9NVD7	p.Leu281Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12511518C>A	NCI-TCGA
PARVA	Q9NVD7	p.Glu282Gln	rs916688195	missense variant	-	NC_000011.10:g.12514042G>C	TOPMed,gnomAD
PARVA	Q9NVD7	p.Val283Leu	rs1239990442	missense variant	-	NC_000011.10:g.12514045G>C	gnomAD
PARVA	Q9NVD7	p.Gln289Leu	rs775654238	missense variant	-	NC_000011.10:g.12514064A>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Asp291His	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12513313G>C	NCI-TCGA
PARVA	Q9NVD7	p.Asp292Asn	rs1269619011	missense variant	-	NC_000011.10:g.12517616G>A	gnomAD
PARVA	Q9NVD7	p.Gly293Glu	rs188970789	missense variant	-	NC_000011.10:g.12517620G>A	1000Genomes,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Val294Met	rs1212490785	missense variant	-	NC_000011.10:g.12517622G>A	gnomAD
PARVA	Q9NVD7	p.Tyr295Asn	rs1453281598	missense variant	-	NC_000011.10:g.12517625T>A	gnomAD
PARVA	Q9NVD7	p.Val297Met	rs1261179701	missense variant	-	NC_000011.10:g.12517631G>A	TOPMed
PARVA	Q9NVD7	p.Gly305Ser	rs1414438434	missense variant	-	NC_000011.10:g.12517655G>A	gnomAD
PARVA	Q9NVD7	p.Lys306Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12513359A>G	NCI-TCGA
PARVA	Q9NVD7	p.Tyr306His	rs1164340581	missense variant	-	NC_000011.10:g.12517658T>C	gnomAD
PARVA	Q9NVD7	p.Thr307Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12513997A>G	NCI-TCGA
PARVA	Q9NVD7	p.Val308Leu	rs1303443263	missense variant	-	NC_000011.10:g.12517664G>T	TOPMed
PARVA	Q9NVD7	p.Val308Ala	rs1391477190	missense variant	-	NC_000011.10:g.12517665T>C	gnomAD
PARVA	Q9NVD7	p.Pro309Ala	rs759398765	missense variant	-	NC_000011.10:g.12517667C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Pro309Ser	rs759398765	missense variant	-	NC_000011.10:g.12517667C>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Ser312Cys	rs1335608725	missense variant	-	NC_000011.10:g.12517676A>T	gnomAD
PARVA	Q9NVD7	p.Asn313Ser	COSM4019039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12514016A>G	NCI-TCGA Cosmic
PARVA	Q9NVD7	p.Phe313Cys	rs530168252	missense variant	-	NC_000011.10:g.12517680T>G	1000Genomes,ExAC,gnomAD
PARVA	Q9NVD7	p.Phe313Leu	rs774812023	missense variant	-	NC_000011.10:g.12517679T>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Phe314Ser	rs763551973	missense variant	-	NC_000011.10:g.12517683T>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Pro317Leu	rs756984126	missense variant	-	NC_000011.10:g.12517692C>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Pro317Ala	rs1162032726	missense variant	-	NC_000011.10:g.12517691C>G	TOPMed
PARVA	Q9NVD7	p.Asp318Asn	rs1438232541	missense variant	-	NC_000011.10:g.12517694G>A	gnomAD
PARVA	Q9NVD7	p.Ser319Gly	rs750850989	missense variant	-	NC_000011.10:g.12517697A>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Ser319Asn	rs569998129	missense variant	-	NC_000011.10:g.12517698G>A	1000Genomes,ExAC,gnomAD
PARVA	Q9NVD7	p.Glu321Asp	rs780590825	missense variant	-	NC_000011.10:g.12517705A>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Lys323Thr	rs1473813838	missense variant	-	NC_000011.10:g.12517710A>C	gnomAD
PARVA	Q9NVD7	p.Leu325Phe	rs370572029	missense variant	-	NC_000011.10:g.12518450G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ser328Pro	rs1380128039	missense variant	-	NC_000011.10:g.12518457T>C	TOPMed,gnomAD
PARVA	Q9NVD7	p.Met334Leu	rs180994495	missense variant	-	NC_000011.10:g.12518475A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Met334Thr	rs750152292	missense variant	-	NC_000011.10:g.12518476T>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Met334Val	rs180994495	missense variant	-	NC_000011.10:g.12518475A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Asp336Val	rs878857923	missense variant	-	NC_000011.10:g.12518482A>T	TOPMed
PARVA	Q9NVD7	p.Asp336Gly	rs878857923	missense variant	-	NC_000011.10:g.12518482A>G	TOPMed
PARVA	Q9NVD7	p.Gly337Arg	rs879232510	missense variant	-	NC_000011.10:g.12518484G>A	gnomAD
PARVA	Q9NVD7	p.Gly338Glu	rs758761824	missense variant	-	NC_000011.10:g.12518488G>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu339Ser	rs1161674420	missense variant	-	NC_000011.10:g.12518491T>C	TOPMed
PARVA	Q9NVD7	p.Leu339Phe	rs752097398	missense variant	-	NC_000011.10:g.12518492G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Pro342Thr	rs755449232	missense variant	-	NC_000011.10:g.12518499C>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Pro344Leu	rs781178760	missense variant	-	NC_000011.10:g.12518506C>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg345Trp	rs980427435	missense variant	-	NC_000011.10:g.12518508C>T	TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg345Gln	rs967114316	missense variant	-	NC_000011.10:g.12518509G>A	TOPMed
PARVA	Q9NVD7	p.Glu347Ala	rs1200536181	missense variant	-	NC_000011.10:g.12518515A>C	TOPMed
PARVA	Q9NVD7	p.Asp348Asn	rs1404768628	missense variant	-	NC_000011.10:g.12518517G>A	TOPMed,gnomAD
PARVA	Q9NVD7	p.Ile349Val	rs368738082	missense variant	-	NC_000011.10:g.12527851A>G	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ile349Met	rs1402581339	missense variant	-	NC_000011.10:g.12527853A>G	TOPMed
PARVA	Q9NVD7	p.Ile349Leu	rs368738082	missense variant	-	NC_000011.10:g.12527851A>T	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Val350Gly	rs900680046	missense variant	-	NC_000011.10:g.12527855T>G	TOPMed
PARVA	Q9NVD7	p.Cys352Tyr	rs371222319	missense variant	-	NC_000011.10:g.12527861G>A	ESP,ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Phe353Ser	COSM3868757	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12517680T>C	NCI-TCGA Cosmic
PARVA	Q9NVD7	p.Lys355Arg	rs554047686	missense variant	-	NC_000011.10:g.12527870A>G	1000Genomes
PARVA	Q9NVD7	p.Arg359Ter	rs753250695	stop gained	-	NC_000011.10:g.12527881C>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Arg359Gln	rs756153904	missense variant	-	NC_000011.10:g.12527882G>A	ExAC,gnomAD
PARVA	Q9NVD7	p.Tyr362His	rs1393029237	missense variant	-	NC_000011.10:g.12527890T>C	gnomAD
PARVA	Q9NVD7	p.Tyr362Cys	rs777895682	missense variant	-	NC_000011.10:g.12527891A>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu364Phe	rs754077970	missense variant	-	NC_000011.10:g.12527896C>T	ExAC,gnomAD
PARVA	Q9NVD7	p.Leu364Val	rs754077970	missense variant	-	NC_000011.10:g.12527896C>G	ExAC,gnomAD
PARVA	Q9NVD7	p.Lys367Asn	rs1478564474	missense variant	-	NC_000011.10:g.12527907G>C	TOPMed
PARVA	Q9NVD7	p.Ser368Phe	COSM3444960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.12518458C>T	NCI-TCGA Cosmic
PARVA	Q9NVD7	p.Arg369Cys	rs200255035	missense variant	-	NC_000011.10:g.12527911C>T	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Arg369His	rs1288006895	missense variant	-	NC_000011.10:g.12527912G>A	gnomAD
PARVA	Q9NVD7	p.Val371Met	rs746803592	missense variant	-	NC_000011.10:g.12527917G>A	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Glu372Gln	rs768623207	missense variant	-	NC_000011.10:g.12527920G>C	ExAC,TOPMed,gnomAD
PARVA	Q9NVD7	p.Ter373Arg	rs748165530	stop lost	-	NC_000011.10:g.12527923T>C	ExAC,gnomAD
PARVA	Q9NVD7	p.Asp376Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12518481G>T	NCI-TCGA
PARVA	Q9NVD7	p.Asn403Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.12527894A>T	NCI-TCGA
PAK1IP1	Q9NWT1	p.Leu3Val	rs1189481622	missense variant	-	NC_000006.12:g.10694992C>G	TOPMed
PAK1IP1	Q9NWT1	p.Val4Phe	rs763848894	missense variant	-	NC_000006.12:g.10694995G>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ala5Pro	rs757088413	missense variant	-	NC_000006.12:g.10694998G>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ala5Ser	rs757088413	missense variant	-	NC_000006.12:g.10694998G>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly6Cys	rs200871118	missense variant	-	NC_000006.12:g.10695001G>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr8Ter	rs1361731562	stop gained	-	NC_000006.12:g.10695009C>A	gnomAD
PAK1IP1	Q9NWT1	p.Tyr8Ter	rs1361731562	stop gained	-	NC_000006.12:g.10695009C>G	gnomAD
PAK1IP1	Q9NWT1	p.Glu9Gln	rs371781516	missense variant	-	NC_000006.12:g.10695010G>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu9Lys	rs371781516	missense variant	-	NC_000006.12:g.10695010G>A	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu9Asp	rs1182004409	missense variant	-	NC_000006.12:g.10695012G>T	gnomAD
PAK1IP1	Q9NWT1	p.Gln10Glu	rs756176747	missense variant	-	NC_000006.12:g.10695013C>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gln10His	rs376060945	missense variant	-	NC_000006.12:g.10695015G>C	ESP,TOPMed
PAK1IP1	Q9NWT1	p.Val11Ile	rs1299991263	missense variant	-	NC_000006.12:g.10695016G>A	TOPMed
PAK1IP1	Q9NWT1	p.Phe13Tyr	rs915535382	missense variant	-	NC_000006.12:g.10695023T>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Phe13Ser	rs915535382	missense variant	-	NC_000006.12:g.10695023T>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Phe13Cys	rs915535382	missense variant	-	NC_000006.12:g.10695023T>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Phe13Val	rs780256684	missense variant	-	NC_000006.12:g.10695022T>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly14Val	rs1467643460	missense variant	-	NC_000006.12:g.10695026G>T	gnomAD
PAK1IP1	Q9NWT1	p.Val17Leu	rs1171955323	missense variant	-	NC_000006.12:g.10695034G>C	gnomAD
PAK1IP1	Q9NWT1	p.His18Tyr	rs749417108	missense variant	-	NC_000006.12:g.10695037C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu20Asp	rs1341888426	missense variant	-	NC_000006.12:g.10695045G>C	gnomAD
PAK1IP1	Q9NWT1	p.Glu20Ala	rs1331835439	missense variant	-	NC_000006.12:g.10695044A>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Pro21Ser	rs1448195071	missense variant	-	NC_000006.12:g.10695046C>T	gnomAD
PAK1IP1	Q9NWT1	p.Pro21Leu	rs774651899	missense variant	-	NC_000006.12:g.10695047C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu22Asp	rs772493979	missense variant	-	NC_000006.12:g.10695051G>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Cys24Phe	rs761160420	missense variant	-	NC_000006.12:g.10695056G>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Asp26Asn	rs1198486289	missense variant	-	NC_000006.12:g.10695061G>A	gnomAD
PAK1IP1	Q9NWT1	p.Asp26Gly	rs1339009310	missense variant	-	NC_000006.12:g.10695062A>G	TOPMed
PAK1IP1	Q9NWT1	p.Glu28Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10695067G>C	NCI-TCGA
PAK1IP1	Q9NWT1	p.Glu28Lys	COSM4187820	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10695067G>A	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Trp30Ter	rs1008791325	stop gained	-	NC_000006.12:g.10697329G>A	TOPMed
PAK1IP1	Q9NWT1	p.Thr31Ile	rs777145719	missense variant	-	NC_000006.12:g.10697331C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr31Ser	rs777145719	missense variant	-	NC_000006.12:g.10697331C>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val33Glu	rs1381378465	missense variant	-	NC_000006.12:g.10697337T>A	gnomAD
PAK1IP1	Q9NWT1	p.Val33Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10697336G>A	NCI-TCGA
PAK1IP1	Q9NWT1	p.Asp35Gly	rs1385034760	missense variant	-	NC_000006.12:g.10697343A>G	gnomAD
PAK1IP1	Q9NWT1	p.Phe36Ile	rs1325385485	missense variant	-	NC_000006.12:g.10697345T>A	gnomAD
PAK1IP1	Q9NWT1	p.Phe36Leu	rs369987329	missense variant	-	NC_000006.12:g.10697347C>A	ESP,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Phe36Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10697345T>G	NCI-TCGA
PAK1IP1	Q9NWT1	p.His38Tyr	rs768207218	missense variant	-	NC_000006.12:g.10697351C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His39Leu	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10697355A>T	NCI-TCGA
PAK1IP1	Q9NWT1	p.Val48Ile	rs370701797	missense variant	-	NC_000006.12:g.10697381G>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ala49Thr	rs946134331	missense variant	-	NC_000006.12:g.10697384G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ala49Pro	rs946134331	missense variant	-	NC_000006.12:g.10697384G>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val50Ile	rs1437657134	missense variant	-	NC_000006.12:g.10697387G>A	gnomAD
PAK1IP1	Q9NWT1	p.Ser52Asn	rs1177158343	missense variant	-	NC_000006.12:g.10697394G>A	gnomAD
PAK1IP1	Q9NWT1	p.Arg53Pro	rs1041702774	missense variant	-	NC_000006.12:g.10697397G>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg53His	rs1041702774	missense variant	-	NC_000006.12:g.10697397G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val55Leu	rs1158757669	missense variant	-	NC_000006.12:g.10697402G>T	TOPMed
PAK1IP1	Q9NWT1	p.Val55Met	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10697402G>A	NCI-TCGA
PAK1IP1	Q9NWT1	p.Val56Leu	rs1158809032	missense variant	-	NC_000006.12:g.10697405G>C	gnomAD
PAK1IP1	Q9NWT1	p.Thr57Pro	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10697408A>C	NCI-TCGA
PAK1IP1	Q9NWT1	p.Lys60Asn	rs1183140580	missense variant	-	NC_000006.12:g.10697419A>T	TOPMed
PAK1IP1	Q9NWT1	p.Lys60Arg	rs139672454	missense variant	-	NC_000006.12:g.10697418A>G	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp61Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10697420G>T	NCI-TCGA
PAK1IP1	Q9NWT1	p.Glu62Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10697423G>C	NCI-TCGA
PAK1IP1	Q9NWT1	p.Ile66Val	rs1035406624	missense variant	-	NC_000006.12:g.10697435A>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr67Cys	rs149772832	missense variant	-	NC_000006.12:g.10697439A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr67His	rs754942039	missense variant	-	NC_000006.12:g.10697438T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Tyr67Ser	rs149772832	missense variant	-	NC_000006.12:g.10697439A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp68Glu	rs988335577	missense variant	-	NC_000006.12:g.10697443C>G	TOPMed
PAK1IP1	Q9NWT1	p.Met69Ile	rs752771472	missense variant	-	NC_000006.12:g.10697446G>A	ExAC
PAK1IP1	Q9NWT1	p.Lys70Arg	rs758617036	missense variant	-	NC_000006.12:g.10697448A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys71Arg	rs1329060208	missense variant	-	NC_000006.12:g.10697451A>G	gnomAD
PAK1IP1	Q9NWT1	p.Ile73Thr	rs1378751120	missense variant	-	NC_000006.12:g.10697457T>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile73Met	rs778004073	missense variant	-	NC_000006.12:g.10697458T>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His75Pro	rs781604474	missense variant	-	NC_000006.12:g.10697463A>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His75Asn	rs771299681	missense variant	-	NC_000006.12:g.10697462C>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu78Val	rs746373040	missense variant	-	NC_000006.12:g.10697471C>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val79Met	rs1339292795	missense variant	-	NC_000006.12:g.10697474G>A	gnomAD
PAK1IP1	Q9NWT1	p.Val79Ala	rs770251781	missense variant	-	NC_000006.12:g.10697475T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His80Pro	rs773879151	missense variant	-	NC_000006.12:g.10697478A>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His80Arg	rs773879151	missense variant	-	NC_000006.12:g.10697478A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His81Tyr	rs1458453525	missense variant	-	NC_000006.12:g.10697480C>T	gnomAD
PAK1IP1	Q9NWT1	p.Thr84Ile	rs757532852	missense variant	-	NC_000006.12:g.10702372C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Thr84Ala	rs751776397	missense variant	-	NC_000006.12:g.10702371A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Thr84Ala	rs751776397	missense variant	-	NC_000006.12:g.10702371A>G	NCI-TCGA,NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Ile85Val	rs1256283696	missense variant	-	NC_000006.12:g.10702374A>G	gnomAD
PAK1IP1	Q9NWT1	p.Thr86Ile	rs998869219	missense variant	-	NC_000006.12:g.10702378C>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys89Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10702386A>C	NCI-TCGA
PAK1IP1	Q9NWT1	p.Tyr91Ter	rs756602288	stop gained	-	NC_000006.12:g.10702394T>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr91Cys	rs746255966	missense variant	-	NC_000006.12:g.10702393A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly92Asp	rs1486906066	missense variant	-	NC_000006.12:g.10702396G>A	TOPMed
PAK1IP1	Q9NWT1	p.His95Leu	rs1478065056	missense variant	-	NC_000006.12:g.10702405A>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.His95Arg	rs1478065056	missense variant	-	NC_000006.12:g.10702405A>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu96Phe	rs1209913480	missense variant	-	NC_000006.12:g.10702409A>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile97Asn	rs1487800692	missense variant	-	NC_000006.12:g.10702411T>A	TOPMed
PAK1IP1	Q9NWT1	p.Ala100Val	rs543079611	missense variant	-	NC_000006.12:g.10702420C>T	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu101Lys	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10702422G>A	NCI-TCGA
PAK1IP1	Q9NWT1	p.Leu104Phe	rs576346939	missense variant	-	NC_000006.12:g.10702431C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu104Pro	rs1456160523	missense variant	-	NC_000006.12:g.10702432T>C	gnomAD
PAK1IP1	Q9NWT1	p.Asp109Ala	rs1398190019	missense variant	-	NC_000006.12:g.10702447A>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp109Val	rs1398190019	missense variant	-	NC_000006.12:g.10702447A>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp109Asn	rs1360031821	missense variant	-	NC_000006.12:g.10702446G>A	gnomAD
PAK1IP1	Q9NWT1	p.Ala110Val	rs1280719286	missense variant	-	NC_000006.12:g.10702450C>T	gnomAD
PAK1IP1	Q9NWT1	p.Lys111Asn	COSM1071794	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10702454G>T	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Lys112Gln	rs1341663907	missense variant	-	NC_000006.12:g.10702455A>C	gnomAD
PAK1IP1	Q9NWT1	p.Trp113Leu	rs1226070786	missense variant	-	NC_000006.12:g.10702459G>T	TOPMed
PAK1IP1	Q9NWT1	p.Glu114Lys	rs954230160	missense variant	-	NC_000006.12:g.10702461G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Cys115Ser	rs770759731	missense variant	-	NC_000006.12:g.10702465G>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Leu116Pro	rs759283569	missense variant	-	NC_000006.12:g.10702468T>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser118Ala	rs775304872	missense variant	-	NC_000006.12:g.10702473T>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys120Asn	rs1305319312	missense variant	-	NC_000006.12:g.10702481A>C	TOPMed
PAK1IP1	Q9NWT1	p.Ala121Val	rs1213806151	missense variant	-	NC_000006.12:g.10702483C>T	gnomAD
PAK1IP1	Q9NWT1	p.His122Pro	rs933583838	missense variant	-	NC_000006.12:g.10702486A>C	TOPMed
PAK1IP1	Q9NWT1	p.Lys123Asn	rs775412822	missense variant	-	NC_000006.12:g.10702565A>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Gly124Arg	rs62621438	missense variant	-	NC_000006.12:g.10702566G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val126Leu	rs551247280	missense variant	-	NC_000006.12:g.10702572G>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu129Phe	rs200433932	missense variant	-	NC_000006.12:g.10702581C>T	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His132Gln	rs548226729	missense variant	-	NC_000006.12:g.10702592C>A	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His132ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10702589_10702590insA	NCI-TCGA
PAK1IP1	Q9NWT1	p.Pro133Ser	rs569689711	missense variant	-	NC_000006.12:g.10702593C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Pro133Leu	rs754307959	missense variant	-	NC_000006.12:g.10702594C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Pro133Ala	rs569689711	missense variant	-	NC_000006.12:g.10702593C>G	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser134Cys	rs1444149658	missense variant	-	NC_000006.12:g.10702597C>G	gnomAD
PAK1IP1	Q9NWT1	p.Gly135Ser	rs1310941584	missense variant	-	NC_000006.12:g.10702599G>A	gnomAD
PAK1IP1	Q9NWT1	p.Leu137Val	rs755512237	missense variant	-	NC_000006.12:g.10702605T>G	ExAC
PAK1IP1	Q9NWT1	p.Ala138Val	rs1463974352	missense variant	-	NC_000006.12:g.10702609C>T	TOPMed
PAK1IP1	Q9NWT1	p.Ala138Thr	rs1048882804	missense variant	-	NC_000006.12:g.10702608G>A	TOPMed
PAK1IP1	Q9NWT1	p.Leu139Pro	rs1277010938	missense variant	-	NC_000006.12:g.10702612T>C	gnomAD
PAK1IP1	Q9NWT1	p.Ser140Leu	rs1350809622	missense variant	-	NC_000006.12:g.10702615C>T	gnomAD
PAK1IP1	Q9NWT1	p.Ser140Ter	COSM6172247	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.10702615C>A	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Val141Ala	rs141357694	missense variant	-	NC_000006.12:g.10702618T>C	ESP,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val141Ile	rs751066241	missense variant	-	NC_000006.12:g.10702617G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Thr143Lys	rs780830226	missense variant	-	NC_000006.12:g.10702624C>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp144Gly	rs1037020277	missense variant	-	NC_000006.12:g.10702627A>G	TOPMed
PAK1IP1	Q9NWT1	p.Thr146Ala	rs1258335016	missense variant	-	NC_000006.12:g.10702632A>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu147Val	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10702635T>G	NCI-TCGA
PAK1IP1	Q9NWT1	p.Thr149Met	rs753133647	missense variant	-	NC_000006.12:g.10703407C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu152Pro	rs1226158270	missense variant	-	NC_000006.12:g.10703416T>C	TOPMed
PAK1IP1	Q9NWT1	p.Val153Ile	rs972279400	missense variant	-	NC_000006.12:g.10703418G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val153Leu	rs972279400	missense variant	-	NC_000006.12:g.10703418G>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg156Gly	rs765782849	missense variant	-	NC_000006.12:g.10703427A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Arg156Ile	rs753261456	missense variant	-	NC_000006.12:g.10703428G>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg156Lys	rs753261456	missense variant	-	NC_000006.12:g.10703428G>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile160Val	rs1401875316	missense variant	-	NC_000006.12:g.10703439A>G	gnomAD
PAK1IP1	Q9NWT1	p.Lys161Arg	rs559977553	missense variant	-	NC_000006.12:g.10703443A>G	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asn162Tyr	rs1338913716	missense variant	-	NC_000006.12:g.10703445A>T	TOPMed
PAK1IP1	Q9NWT1	p.Asn162Thr	rs530364577	missense variant	-	NC_000006.12:g.10703446A>C	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys164Glu	rs1305414182	missense variant	-	NC_000006.12:g.10703451A>G	TOPMed
PAK1IP1	Q9NWT1	p.Lys164Asn	rs1360431859	missense variant	-	NC_000006.12:g.10703453A>C	gnomAD
PAK1IP1	Q9NWT1	p.Lys164Asn	rs1360431859	missense variant	-	NC_000006.12:g.10703453A>C	NCI-TCGA
PAK1IP1	Q9NWT1	p.Gln165Glu	rs1414843182	missense variant	-	NC_000006.12:g.10703454C>G	gnomAD
PAK1IP1	Q9NWT1	p.Ala167Ser	rs764693083	missense variant	-	NC_000006.12:g.10704509G>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ala167Thr	COSM1329371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10704509G>A	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.His168Arg	rs1318841475	missense variant	-	NC_000006.12:g.10704513A>G	gnomAD
PAK1IP1	Q9NWT1	p.Ile169Met	rs1230758231	missense variant	-	NC_000006.12:g.10704517A>G	gnomAD
PAK1IP1	Q9NWT1	p.Ile169Val	rs1406046644	missense variant	-	NC_000006.12:g.10704515A>G	TOPMed
PAK1IP1	Q9NWT1	p.Ile169Thr	rs749851403	missense variant	-	NC_000006.12:g.10704516T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val170Glu	rs938084538	missense variant	-	NC_000006.12:g.10704519T>A	gnomAD
PAK1IP1	Q9NWT1	p.Trp172Ter	rs1239627967	stop gained	-	NC_000006.12:g.10704525G>A	gnomAD
PAK1IP1	Q9NWT1	p.Trp172Cys	rs201862329	missense variant	-	NC_000006.12:g.10704526G>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Trp172Arg	rs1348879251	missense variant	-	NC_000006.12:g.10704524T>C	gnomAD
PAK1IP1	Q9NWT1	p.Ser173Thr	rs765946190	missense variant	-	NC_000006.12:g.10704527T>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Pro174Leu	rs753482373	missense variant	-	NC_000006.12:g.10704531C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Pro174Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10704530C>A	NCI-TCGA
PAK1IP1	Q9NWT1	p.Pro174Leu	rs753482373	missense variant	-	NC_000006.12:g.10704531C>T	NCI-TCGA
PAK1IP1	Q9NWT1	p.Gly176Arg	rs754679174	missense variant	-	NC_000006.12:g.10704536G>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly176Arg	rs754679174	missense variant	-	NC_000006.12:g.10704536G>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly176Glu	rs778660768	missense variant	-	NC_000006.12:g.10704537G>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu177Asp	rs748018921	missense variant	-	NC_000006.12:g.10704541G>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu177Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10704539G>C	NCI-TCGA
PAK1IP1	Q9NWT1	p.Tyr179His	rs1454457308	missense variant	-	NC_000006.12:g.10704545T>C	gnomAD
PAK1IP1	Q9NWT1	p.Val180Leu	rs375444258	missense variant	-	NC_000006.12:g.10704548G>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile182Thr	rs770529700	missense variant	-	NC_000006.12:g.10704555T>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile183Met	rs916074390	missense variant	-	NC_000006.12:g.10704559A>G	TOPMed
PAK1IP1	Q9NWT1	p.Gln184Ter	rs771049452	stop gained	-	NC_000006.12:g.10704560C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys186Thr	COSM1071796	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10704567A>C	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Ile189Met	rs775957449	missense variant	-	NC_000006.12:g.10704577C>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile189Thr	rs141123017	missense variant	-	NC_000006.12:g.10704576T>C	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ile189Val	rs201625393	missense variant	-	NC_000006.12:g.10704575A>G	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr190His	rs764449402	missense variant	-	NC_000006.12:g.10704578T>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr190Cys	rs762291816	missense variant	-	NC_000006.12:g.10704579A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr190Asn	rs764449402	missense variant	-	NC_000006.12:g.10704578T>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr194Ile	rs1261693949	missense variant	-	NC_000006.12:g.10704591C>T	gnomAD
PAK1IP1	Q9NWT1	p.Ala195Val	rs929059408	missense variant	-	NC_000006.12:g.10704594C>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser196Pro	rs765857722	missense variant	-	NC_000006.12:g.10704596T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ser198Asn	rs145305623	missense variant	-	NC_000006.12:g.10704603G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser198Ile	rs145305623	missense variant	-	NC_000006.12:g.10704603G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr200Ile	rs754597395	missense variant	-	NC_000006.12:g.10704609C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile201Thr	rs1177665734	missense variant	-	NC_000006.12:g.10704612T>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile201Met	rs1427729335	missense variant	-	NC_000006.12:g.10704613C>G	TOPMed
PAK1IP1	Q9NWT1	p.Glu204Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.10704620G>T	NCI-TCGA
PAK1IP1	Q9NWT1	p.Arg206Ile	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10704627G>T	NCI-TCGA
PAK1IP1	Q9NWT1	p.Ile207Met	rs1268338228	missense variant	-	NC_000006.12:g.10704631T>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile207Asn	rs1235951252	missense variant	-	NC_000006.12:g.10704630T>A	gnomAD
PAK1IP1	Q9NWT1	p.Ser208Phe	rs374642668	missense variant	-	NC_000006.12:g.10704633C>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu213Ile	rs1456355850	missense variant	-	NC_000006.12:g.10704647C>A	gnomAD
PAK1IP1	Q9NWT1	p.Leu213Ile	rs1456355850	missense variant	-	NC_000006.12:g.10704647C>A	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Glu215Asp	rs112971132	missense variant	-	NC_000006.12:g.10704749G>T	TOPMed
PAK1IP1	Q9NWT1	p.Glu215Lys	rs1462708228	missense variant	-	NC_000006.12:g.10704747G>A	gnomAD
PAK1IP1	Q9NWT1	p.Glu215Gly	rs759073628	missense variant	-	NC_000006.12:g.10704748A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val220Met	rs1042628376	missense variant	-	NC_000006.12:g.10704762G>A	TOPMed
PAK1IP1	Q9NWT1	p.Asp223Glu	rs1340442424	missense variant	-	NC_000006.12:g.10704773T>G	gnomAD
PAK1IP1	Q9NWT1	p.Asp223Gly	rs762579782	missense variant	-	NC_000006.12:g.10704772A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu225Val	rs903255182	missense variant	-	NC_000006.12:g.10704778A>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile227Lys	rs751362115	missense variant	-	NC_000006.12:g.10704784T>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile227Thr	rs751362115	missense variant	-	NC_000006.12:g.10704784T>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Phe230Leu	rs1248330092	missense variant	-	NC_000006.12:g.10704794T>G	TOPMed
PAK1IP1	Q9NWT1	p.Phe230LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10704789T>-	NCI-TCGA
PAK1IP1	Q9NWT1	p.Phe230Leu	COSM3429824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10704792T>C	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Asp231Tyr	rs1227761972	missense variant	-	NC_000006.12:g.10704795G>T	gnomAD
PAK1IP1	Q9NWT1	p.Asp231Val	rs757218948	missense variant	-	NC_000006.12:g.10704796A>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Cys232Arg	rs1482023186	missense variant	-	NC_000006.12:g.10704798T>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Cys232Tyr	rs781299034	missense variant	-	NC_000006.12:g.10704799G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Asp233Asn	rs1035653928	missense variant	-	NC_000006.12:g.10704801G>A	TOPMed
PAK1IP1	Q9NWT1	p.Leu235Val	rs960066635	missense variant	-	NC_000006.12:g.10704807C>G	TOPMed
PAK1IP1	Q9NWT1	p.Leu235Pro	rs756266685	missense variant	-	NC_000006.12:g.10704808T>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val236Ala	rs780060997	missense variant	-	NC_000006.12:g.10704811T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Cys237Tyr	rs1479490155	missense variant	-	NC_000006.12:g.10704814G>A	TOPMed
PAK1IP1	Q9NWT1	p.Cys237Tyr	rs1479490155	missense variant	-	NC_000006.12:g.10704814G>A	NCI-TCGA
PAK1IP1	Q9NWT1	p.Leu238Phe	rs1211316676	missense variant	-	NC_000006.12:g.10704816C>T	TOPMed
PAK1IP1	Q9NWT1	p.Glu240Lys	rs1175682038	missense variant	-	NC_000006.12:g.10704822G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu240Lys	rs1175682038	missense variant	-	NC_000006.12:g.10704822G>A	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Lys242Arg	rs768806860	missense variant	-	NC_000006.12:g.10704829A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ala243Val	rs1436731359	missense variant	-	NC_000006.12:g.10704832C>T	gnomAD
PAK1IP1	Q9NWT1	p.His244Tyr	COSM3619246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10704834C>T	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Val248Leu	rs1389597755	missense variant	-	NC_000006.12:g.10707416G>T	TOPMed
PAK1IP1	Q9NWT1	p.Glu255Val	rs970831289	missense variant	-	NC_000006.12:g.10707438A>T	TOPMed
PAK1IP1	Q9NWT1	p.Glu255Gln	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10707437G>C	NCI-TCGA
PAK1IP1	Q9NWT1	p.Pro257Ala	rs780155614	missense variant	-	NC_000006.12:g.10707443C>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Pro257Ser	rs780155614	missense variant	-	NC_000006.12:g.10707443C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu258Lys	COSM3975708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10707446G>A	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Glu258Gln	COSM6104975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10707446G>C	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.His259Arg	rs774340999	missense variant	-	NC_000006.12:g.10707450A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.His259Tyr	rs1317445830	missense variant	-	NC_000006.12:g.10707449C>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.His260Tyr	rs926366590	missense variant	-	NC_000006.12:g.10707452C>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val261Leu	rs1469627432	missense variant	-	NC_000006.12:g.10707455G>C	gnomAD
PAK1IP1	Q9NWT1	p.Val261Ala	COSM3828722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10707456T>C	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Ser264Ter	NCI-TCGA novel	stop gained	-	NC_000006.12:g.10707465C>G	NCI-TCGA
PAK1IP1	Q9NWT1	p.Ala265Val	rs779029025	missense variant	-	NC_000006.12:g.10707468C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ser267Asn	rs778178362	missense variant	-	NC_000006.12:g.10707474G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ile271Thr	COSM1071800	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10707486T>C	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Lys272Arg	rs1179031663	missense variant	-	NC_000006.12:g.10707489A>G	gnomAD
PAK1IP1	Q9NWT1	p.Met273Ile	rs747502007	missense variant	-	NC_000006.12:g.10707493G>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys275Thr	rs771392427	missense variant	-	NC_000006.12:g.10707498A>C	ExAC
PAK1IP1	Q9NWT1	p.Asp279Gly	rs748769773	missense variant	-	NC_000006.12:g.10707510A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Asp279Val	rs748769773	missense variant	-	NC_000006.12:g.10707510A>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Asp279Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10707509G>A	NCI-TCGA
PAK1IP1	Q9NWT1	p.Lys280Glu	rs543748909	missense variant	-	NC_000006.12:g.10707512A>G	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys281Gln	rs1330440499	missense variant	-	NC_000006.12:g.10708953A>C	gnomAD
PAK1IP1	Q9NWT1	p.Lys281Arg	rs774061851	missense variant	-	NC_000006.12:g.10708954A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val282Ala	rs150098092	missense variant	-	NC_000006.12:g.10708957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val282Ile	rs1446641274	missense variant	-	NC_000006.12:g.10708956G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val282Phe	COSM1071802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10708956G>T	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Pro284Ser	rs988724197	missense variant	-	NC_000006.12:g.10708962C>T	TOPMed
PAK1IP1	Q9NWT1	p.Leu286Ser	rs1301929326	missense variant	-	NC_000006.12:g.10708969T>C	TOPMed
PAK1IP1	Q9NWT1	p.Leu286Ile	rs1331616971	missense variant	-	NC_000006.12:g.10708968T>A	TOPMed
PAK1IP1	Q9NWT1	p.Leu287Phe	rs771887841	missense variant	-	NC_000006.12:g.10708971C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Leu287Pro	rs1422201546	missense variant	-	NC_000006.12:g.10708972T>C	TOPMed
PAK1IP1	Q9NWT1	p.Cys288Ser	rs1371940259	missense variant	-	NC_000006.12:g.10708974T>A	TOPMed
PAK1IP1	Q9NWT1	p.Glu289Ala	rs1233762706	missense variant	-	NC_000006.12:g.10708978A>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile290Met	rs1168805160	missense variant	-	NC_000006.12:g.10708982A>G	TOPMed
PAK1IP1	Q9NWT1	p.Thr292Ser	rs1409058274	missense variant	-	NC_000006.12:g.10708986A>T	TOPMed
PAK1IP1	Q9NWT1	p.Ala294Val	rs1193312289	missense variant	-	NC_000006.12:g.10708993C>T	TOPMed
PAK1IP1	Q9NWT1	p.Thr297Met	rs759587941	missense variant	-	NC_000006.12:g.10709002C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Leu299Phe	rs541330686	missense variant	-	NC_000006.12:g.10709007C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ala307Val	rs1193510970	missense variant	-	NC_000006.12:g.10709032C>T	gnomAD
PAK1IP1	Q9NWT1	p.Ala307Thr	rs1484061175	missense variant	-	NC_000006.12:g.10709031G>A	TOPMed
PAK1IP1	Q9NWT1	p.Met309Val	rs764331618	missense variant	-	NC_000006.12:g.10709037A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu311Lys	rs971167647	missense variant	-	NC_000006.12:g.10709043G>A	TOPMed
PAK1IP1	Q9NWT1	p.Pro314Ser	rs751862442	missense variant	-	NC_000006.12:g.10709052C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Pro315Leu	rs757564742	missense variant	-	NC_000006.12:g.10709056C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ser320Tyr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10709071C>A	NCI-TCGA
PAK1IP1	Q9NWT1	p.Pro321Ser	rs781668945	missense variant	-	NC_000006.12:g.10709073C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu325Val	rs762152013	missense variant	-	NC_000006.12:g.10709247A>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ser327Pro	rs370741204	missense variant	-	NC_000006.12:g.10709252T>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser327Phe	rs750835827	missense variant	-	NC_000006.12:g.10709253C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ile329Thr	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10709259T>C	NCI-TCGA
PAK1IP1	Q9NWT1	p.Lys332Asn	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10709269G>T	NCI-TCGA
PAK1IP1	Q9NWT1	p.Glu333Asp	rs201629252	missense variant	-	NC_000006.12:g.10709272G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly335Ser	rs1441369764	missense variant	-	NC_000006.12:g.10709276G>A	gnomAD
PAK1IP1	Q9NWT1	p.Val338Ala	rs375199458	missense variant	-	NC_000006.12:g.10709286T>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val338Met	rs757989245	missense variant	-	NC_000006.12:g.10709285G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys340Glu	rs770667105	missense variant	-	NC_000006.12:g.10709291A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu342Gln	rs149331925	missense variant	-	NC_000006.12:g.10709297G>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu342Ala	rs745708831	missense variant	-	NC_000006.12:g.10709298A>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Arg344Leu	rs190974202	missense variant	-	NC_000006.12:g.10709304G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg344Gln	rs190974202	missense variant	-	NC_000006.12:g.10709304G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg344Trp	rs769673112	missense variant	-	NC_000006.12:g.10709303C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg344Trp	rs769673112	missense variant	-	NC_000006.12:g.10709303C>T	NCI-TCGA,NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Ser345Pro	rs774539405	missense variant	-	NC_000006.12:g.10709306T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys350Glu	rs761905760	missense variant	-	NC_000006.12:g.10709321A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys351Glu	rs1417396834	missense variant	-	NC_000006.12:g.10709324A>G	TOPMed
PAK1IP1	Q9NWT1	p.Arg352His	rs750701531	missense variant	-	NC_000006.12:g.10709328G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Arg352Cys	rs147437498	missense variant	-	NC_000006.12:g.10709327C>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg352Cys	rs147437498	missense variant	-	NC_000006.12:g.10709327C>T	NCI-TCGA,NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Gly353Ser	rs532654988	missense variant	-	NC_000006.12:g.10709330G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly353Cys	rs532654988	missense variant	-	NC_000006.12:g.10709330G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr355Arg	rs548071451	missense variant	-	NC_000006.12:g.10709337C>G	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Thr355Ser	rs138082481	missense variant	-	NC_000006.12:g.10709336A>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp357Tyr	rs1468653869	missense variant	-	NC_000006.12:g.10709342G>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp357His	rs1468653869	missense variant	-	NC_000006.12:g.10709342G>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser358Gly	rs763494608	missense variant	-	NC_000006.12:g.10709345A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys359Glu	rs34857240	missense variant	-	NC_000006.12:g.10709348A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr362Ile	rs1381592765	missense variant	-	NC_000006.12:g.10709358C>T	TOPMed
PAK1IP1	Q9NWT1	p.Thr362Ala	rs147259600	missense variant	-	NC_000006.12:g.10709357A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu364Ter	COSM1071804	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.10709363G>T	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Ile368Met	rs768619766	missense variant	-	NC_000006.12:g.10709377A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ile368Val	rs749199819	missense variant	-	NC_000006.12:g.10709375A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ile368Thr	rs1437708870	missense variant	-	NC_000006.12:g.10709376T>C	TOPMed
PAK1IP1	Q9NWT1	p.Ser369Pro	rs201265248	missense variant	-	NC_000006.12:g.10709378T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Thr370Ser	NCI-TCGA novel	missense variant	-	NC_000006.12:g.10709382C>G	NCI-TCGA
PAK1IP1	Q9NWT1	p.Lys372Arg	rs1296638087	missense variant	-	NC_000006.12:g.10709388A>G	gnomAD
PAK1IP1	Q9NWT1	p.Val376Ile	rs72821574	missense variant	-	NC_000006.12:g.10709399G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Met378Ile	rs150834153	missense variant	-	NC_000006.12:g.10709407G>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu380AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000006.12:g.10709412_10709413insCTGTTCTTTACTTACT	NCI-TCGA
PAK1IP1	Q9NWT1	p.Glu380Gly	COSM3857264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.10709412A>G	NCI-TCGA Cosmic
PAK1IP1	Q9NWT1	p.Lys384Arg	rs1383628115	missense variant	-	NC_000006.12:g.10709424A>G	TOPMed
PAK1IP1	Q9NWT1	p.Lys384Glu	rs747636201	missense variant	-	NC_000006.12:g.10709423A>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys386Asn	rs139264536	missense variant	-	NC_000006.12:g.10709431G>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile388Met	rs995826338	missense variant	-	NC_000006.12:g.10709437A>G	TOPMed
PAK1IP1	Q9NWT1	p.Ile388Val	rs537437372	missense variant	-	NC_000006.12:g.10709435A>G	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys389Arg	rs1340931492	missense variant	-	NC_000006.12:g.10709439A>G	gnomAD
PAK1IP1	Q9NWT1	p.Thr390Ala	rs1195879678	missense variant	-	NC_000006.12:g.10709441A>G	gnomAD
PAK1IP1	Q9NWT1	p.Thr390Lys	rs764243590	missense variant	-	NC_000006.12:g.10709442C>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr390Ile	rs764243590	missense variant	-	NC_000006.12:g.10709442C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Met391Arg	rs1484665335	missense variant	-	NC_000006.12:g.10709445T>G	gnomAD
PAK1IP1	Q9NWT1	p.Gln392Ter	rs760088755	stop gained	-	NC_000006.12:g.10709447C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Gln392Leu	rs765805578	missense variant	-	NC_000006.12:g.10709448A>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Gln392Leu	rs765805578	missense variant	-	NC_000006.12:g.10709448A>T	NCI-TCGA
PAK1IP1	Q9NWT1	p.Ter393Ser	rs750985706	stop lost	-	NC_000006.12:g.10709451G>C	ExAC
PAK1IP1	Q9NWT1	p.Leu3Val	rs1189481622	missense variant	-	CHR_HG2057_PATCH:g.10694992C>G	TOPMed
PAK1IP1	Q9NWT1	p.Val4Phe	rs763848894	missense variant	-	CHR_HG2057_PATCH:g.10694995G>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ala5Ser	rs757088413	missense variant	-	CHR_HG2057_PATCH:g.10694998G>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ala5Pro	rs757088413	missense variant	-	CHR_HG2057_PATCH:g.10694998G>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly6Cys	rs200871118	missense variant	-	CHR_HG2057_PATCH:g.10695001G>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr8Ter	rs1361731562	stop gained	-	CHR_HG2057_PATCH:g.10695009C>A	gnomAD
PAK1IP1	Q9NWT1	p.Tyr8Ter	rs1361731562	stop gained	-	CHR_HG2057_PATCH:g.10695009C>G	gnomAD
PAK1IP1	Q9NWT1	p.Glu9Asp	rs1182004409	missense variant	-	CHR_HG2057_PATCH:g.10695012G>T	gnomAD
PAK1IP1	Q9NWT1	p.Glu9Lys	rs371781516	missense variant	-	CHR_HG2057_PATCH:g.10695010G>A	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu9Gln	rs371781516	missense variant	-	CHR_HG2057_PATCH:g.10695010G>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gln10His	rs376060945	missense variant	-	CHR_HG2057_PATCH:g.10695015G>C	ESP,TOPMed
PAK1IP1	Q9NWT1	p.Gln10Glu	rs756176747	missense variant	-	CHR_HG2057_PATCH:g.10695013C>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val11Ile	rs1299991263	missense variant	-	CHR_HG2057_PATCH:g.10695016G>A	TOPMed
PAK1IP1	Q9NWT1	p.Phe13Tyr	rs915535382	missense variant	-	CHR_HG2057_PATCH:g.10695023T>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Phe13Val	rs780256684	missense variant	-	CHR_HG2057_PATCH:g.10695022T>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Phe13Ser	rs915535382	missense variant	-	CHR_HG2057_PATCH:g.10695023T>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Phe13Cys	rs915535382	missense variant	-	CHR_HG2057_PATCH:g.10695023T>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly14Val	rs1467643460	missense variant	-	CHR_HG2057_PATCH:g.10695026G>T	gnomAD
PAK1IP1	Q9NWT1	p.Val17Leu	rs1171955323	missense variant	-	CHR_HG2057_PATCH:g.10695034G>C	gnomAD
PAK1IP1	Q9NWT1	p.His18Tyr	rs749417108	missense variant	-	CHR_HG2057_PATCH:g.10695037C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu20Asp	rs1341888426	missense variant	-	CHR_HG2057_PATCH:g.10695045G>C	gnomAD
PAK1IP1	Q9NWT1	p.Glu20Ala	rs1331835439	missense variant	-	CHR_HG2057_PATCH:g.10695044A>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Pro21Leu	rs774651899	missense variant	-	CHR_HG2057_PATCH:g.10695047C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Pro21Ser	rs1448195071	missense variant	-	CHR_HG2057_PATCH:g.10695046C>T	gnomAD
PAK1IP1	Q9NWT1	p.Glu22Asp	rs772493979	missense variant	-	CHR_HG2057_PATCH:g.10695051G>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Cys24Phe	rs761160420	missense variant	-	CHR_HG2057_PATCH:g.10695056G>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Asp26Asn	rs1198486289	missense variant	-	CHR_HG2057_PATCH:g.10695061G>A	gnomAD
PAK1IP1	Q9NWT1	p.Asp26Gly	rs1339009310	missense variant	-	CHR_HG2057_PATCH:g.10695062A>G	TOPMed
PAK1IP1	Q9NWT1	p.Trp30Ter	rs1008791325	stop gained	-	CHR_HG2057_PATCH:g.10697329G>A	TOPMed
PAK1IP1	Q9NWT1	p.Thr31Ile	rs777145719	missense variant	-	CHR_HG2057_PATCH:g.10697331C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr31Ser	rs777145719	missense variant	-	CHR_HG2057_PATCH:g.10697331C>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val33Glu	rs1381378465	missense variant	-	CHR_HG2057_PATCH:g.10697337T>A	gnomAD
PAK1IP1	Q9NWT1	p.Asp35Gly	rs1385034760	missense variant	-	CHR_HG2057_PATCH:g.10697343A>G	gnomAD
PAK1IP1	Q9NWT1	p.Phe36Leu	rs369987329	missense variant	-	CHR_HG2057_PATCH:g.10697347C>A	ESP,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Phe36Ile	rs1325385485	missense variant	-	CHR_HG2057_PATCH:g.10697345T>A	gnomAD
PAK1IP1	Q9NWT1	p.His38Tyr	rs768207218	missense variant	-	CHR_HG2057_PATCH:g.10697351C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val48Ile	rs370701797	missense variant	-	CHR_HG2057_PATCH:g.10697381G>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ala49Thr	rs946134331	missense variant	-	CHR_HG2057_PATCH:g.10697384G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ala49Pro	rs946134331	missense variant	-	CHR_HG2057_PATCH:g.10697384G>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val50Ile	rs1437657134	missense variant	-	CHR_HG2057_PATCH:g.10697387G>A	gnomAD
PAK1IP1	Q9NWT1	p.Ser52Asn	rs1177158343	missense variant	-	CHR_HG2057_PATCH:g.10697394G>A	gnomAD
PAK1IP1	Q9NWT1	p.Arg53His	rs1041702774	missense variant	-	CHR_HG2057_PATCH:g.10697397G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg53Pro	rs1041702774	missense variant	-	CHR_HG2057_PATCH:g.10697397G>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val55Leu	rs1158757669	missense variant	-	CHR_HG2057_PATCH:g.10697402G>T	TOPMed
PAK1IP1	Q9NWT1	p.Val56Leu	rs1158809032	missense variant	-	CHR_HG2057_PATCH:g.10697405G>C	gnomAD
PAK1IP1	Q9NWT1	p.Lys60Arg	rs139672454	missense variant	-	CHR_HG2057_PATCH:g.10697418A>G	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys60Asn	rs1183140580	missense variant	-	CHR_HG2057_PATCH:g.10697419A>T	TOPMed
PAK1IP1	Q9NWT1	p.Ile66Val	rs1035406624	missense variant	-	CHR_HG2057_PATCH:g.10697435A>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr67His	rs754942039	missense variant	-	CHR_HG2057_PATCH:g.10697438T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Tyr67Ser	rs149772832	missense variant	-	CHR_HG2057_PATCH:g.10697439A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr67Cys	rs149772832	missense variant	-	CHR_HG2057_PATCH:g.10697439A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp68Glu	rs988335577	missense variant	-	CHR_HG2057_PATCH:g.10697443C>G	TOPMed
PAK1IP1	Q9NWT1	p.Met69Ile	rs752771472	missense variant	-	CHR_HG2057_PATCH:g.10697446G>A	ExAC
PAK1IP1	Q9NWT1	p.Lys70Arg	rs758617036	missense variant	-	CHR_HG2057_PATCH:g.10697448A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys71Arg	rs1329060208	missense variant	-	CHR_HG2057_PATCH:g.10697451A>G	gnomAD
PAK1IP1	Q9NWT1	p.Ile73Thr	rs1378751120	missense variant	-	CHR_HG2057_PATCH:g.10697457T>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile73Met	rs778004073	missense variant	-	CHR_HG2057_PATCH:g.10697458T>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His75Pro	rs781604474	missense variant	-	CHR_HG2057_PATCH:g.10697463A>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His75Asn	rs771299681	missense variant	-	CHR_HG2057_PATCH:g.10697462C>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu78Val	rs746373040	missense variant	-	CHR_HG2057_PATCH:g.10697471C>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val79Ala	rs770251781	missense variant	-	CHR_HG2057_PATCH:g.10697475T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val79Met	rs1339292795	missense variant	-	CHR_HG2057_PATCH:g.10697474G>A	gnomAD
PAK1IP1	Q9NWT1	p.His80Pro	rs773879151	missense variant	-	CHR_HG2057_PATCH:g.10697478A>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His80Arg	rs773879151	missense variant	-	CHR_HG2057_PATCH:g.10697478A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His81Tyr	rs1458453525	missense variant	-	CHR_HG2057_PATCH:g.10697480C>T	gnomAD
PAK1IP1	Q9NWT1	p.Thr84Ile	rs757532852	missense variant	-	CHR_HG2057_PATCH:g.10702372C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Thr84Ala	rs751776397	missense variant	-	CHR_HG2057_PATCH:g.10702371A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ile85Val	rs1256283696	missense variant	-	CHR_HG2057_PATCH:g.10702374A>G	gnomAD
PAK1IP1	Q9NWT1	p.Thr86Ile	rs998869219	missense variant	-	CHR_HG2057_PATCH:g.10702378C>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr91Ter	rs756602288	stop gained	-	CHR_HG2057_PATCH:g.10702394T>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr91Cys	rs746255966	missense variant	-	CHR_HG2057_PATCH:g.10702393A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly92Asp	rs1486906066	missense variant	-	CHR_HG2057_PATCH:g.10702396G>A	TOPMed
PAK1IP1	Q9NWT1	p.His95Arg	rs1478065056	missense variant	-	CHR_HG2057_PATCH:g.10702405A>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.His95Leu	rs1478065056	missense variant	-	CHR_HG2057_PATCH:g.10702405A>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu96Phe	rs1209913480	missense variant	-	CHR_HG2057_PATCH:g.10702409A>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile97Asn	rs1487800692	missense variant	-	CHR_HG2057_PATCH:g.10702411T>A	TOPMed
PAK1IP1	Q9NWT1	p.Ala100Val	rs543079611	missense variant	-	CHR_HG2057_PATCH:g.10702420C>T	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Leu104Pro	rs1456160523	missense variant	-	CHR_HG2057_PATCH:g.10702432T>C	gnomAD
PAK1IP1	Q9NWT1	p.Leu104Phe	rs576346939	missense variant	-	CHR_HG2057_PATCH:g.10702431C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp109Ala	rs1398190019	missense variant	-	CHR_HG2057_PATCH:g.10702447A>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp109Asn	rs1360031821	missense variant	-	CHR_HG2057_PATCH:g.10702446G>A	gnomAD
PAK1IP1	Q9NWT1	p.Asp109Val	rs1398190019	missense variant	-	CHR_HG2057_PATCH:g.10702447A>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ala110Val	rs1280719286	missense variant	-	CHR_HG2057_PATCH:g.10702450C>T	gnomAD
PAK1IP1	Q9NWT1	p.Lys112Gln	rs1341663907	missense variant	-	CHR_HG2057_PATCH:g.10702455A>C	gnomAD
PAK1IP1	Q9NWT1	p.Trp113Leu	rs1226070786	missense variant	-	CHR_HG2057_PATCH:g.10702459G>T	TOPMed
PAK1IP1	Q9NWT1	p.Glu114Lys	rs954230160	missense variant	-	CHR_HG2057_PATCH:g.10702461G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Cys115Ser	rs770759731	missense variant	-	CHR_HG2057_PATCH:g.10702465G>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Leu116Pro	rs759283569	missense variant	-	CHR_HG2057_PATCH:g.10702468T>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser118Ala	rs775304872	missense variant	-	CHR_HG2057_PATCH:g.10702473T>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys120Asn	rs1305319312	missense variant	-	CHR_HG2057_PATCH:g.10702481A>C	TOPMed
PAK1IP1	Q9NWT1	p.Ala121Val	rs1213806151	missense variant	-	CHR_HG2057_PATCH:g.10702483C>T	gnomAD
PAK1IP1	Q9NWT1	p.His122Pro	rs933583838	missense variant	-	CHR_HG2057_PATCH:g.10702486A>C	TOPMed
PAK1IP1	Q9NWT1	p.Lys123Asn	rs775412822	missense variant	-	CHR_HG2057_PATCH:g.10702565A>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Gly124Arg	rs62621438	missense variant	-	CHR_HG2057_PATCH:g.10702566G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val126Leu	rs551247280	missense variant	-	CHR_HG2057_PATCH:g.10702572G>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu129Phe	rs200433932	missense variant	-	CHR_HG2057_PATCH:g.10702581C>T	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His132Gln	rs548226729	missense variant	-	CHR_HG2057_PATCH:g.10702592C>A	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Pro133Ala	rs569689711	missense variant	-	CHR_HG2057_PATCH:g.10702593C>G	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Pro133Ser	rs569689711	missense variant	-	CHR_HG2057_PATCH:g.10702593C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Pro133Leu	rs754307959	missense variant	-	CHR_HG2057_PATCH:g.10702594C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ser134Cys	rs1444149658	missense variant	-	CHR_HG2057_PATCH:g.10702597C>G	gnomAD
PAK1IP1	Q9NWT1	p.Gly135Ser	rs1310941584	missense variant	-	CHR_HG2057_PATCH:g.10702599G>A	gnomAD
PAK1IP1	Q9NWT1	p.Leu137Val	rs755512237	missense variant	-	CHR_HG2057_PATCH:g.10702605T>G	ExAC
PAK1IP1	Q9NWT1	p.Ala138Val	rs1463974352	missense variant	-	CHR_HG2057_PATCH:g.10702609C>T	TOPMed
PAK1IP1	Q9NWT1	p.Ala138Thr	rs1048882804	missense variant	-	CHR_HG2057_PATCH:g.10702608G>A	TOPMed
PAK1IP1	Q9NWT1	p.Leu139Pro	rs1277010938	missense variant	-	CHR_HG2057_PATCH:g.10702612T>C	gnomAD
PAK1IP1	Q9NWT1	p.Ser140Leu	rs1350809622	missense variant	-	CHR_HG2057_PATCH:g.10702615C>T	gnomAD
PAK1IP1	Q9NWT1	p.Val141Ala	rs141357694	missense variant	-	CHR_HG2057_PATCH:g.10702618T>C	ESP,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val141Ile	rs751066241	missense variant	-	CHR_HG2057_PATCH:g.10702617G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Thr143Lys	rs780830226	missense variant	-	CHR_HG2057_PATCH:g.10702624C>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp144Gly	rs1037020277	missense variant	-	CHR_HG2057_PATCH:g.10702627A>G	TOPMed
PAK1IP1	Q9NWT1	p.Thr146Ala	rs1258335016	missense variant	-	CHR_HG2057_PATCH:g.10702632A>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr149Met	rs753133647	missense variant	-	CHR_HG2057_PATCH:g.10703407C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu152Pro	rs1226158270	missense variant	-	CHR_HG2057_PATCH:g.10703416T>C	TOPMed
PAK1IP1	Q9NWT1	p.Val153Ile	rs972279400	missense variant	-	CHR_HG2057_PATCH:g.10703418G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val153Leu	rs972279400	missense variant	-	CHR_HG2057_PATCH:g.10703418G>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg156Lys	rs753261456	missense variant	-	CHR_HG2057_PATCH:g.10703428G>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg156Gly	rs765782849	missense variant	-	CHR_HG2057_PATCH:g.10703427A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Arg156Ile	rs753261456	missense variant	-	CHR_HG2057_PATCH:g.10703428G>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile160Val	rs1401875316	missense variant	-	CHR_HG2057_PATCH:g.10703439A>G	gnomAD
PAK1IP1	Q9NWT1	p.Lys161Arg	rs559977553	missense variant	-	CHR_HG2057_PATCH:g.10703443A>G	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asn162Tyr	rs1338913716	missense variant	-	CHR_HG2057_PATCH:g.10703445A>T	TOPMed
PAK1IP1	Q9NWT1	p.Asn162Thr	rs530364577	missense variant	-	CHR_HG2057_PATCH:g.10703446A>C	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys164Glu	rs1305414182	missense variant	-	CHR_HG2057_PATCH:g.10703451A>G	TOPMed
PAK1IP1	Q9NWT1	p.Lys164Asn	rs1360431859	missense variant	-	CHR_HG2057_PATCH:g.10703453A>C	gnomAD
PAK1IP1	Q9NWT1	p.Gln165Glu	rs1414843182	missense variant	-	CHR_HG2057_PATCH:g.10703454C>G	gnomAD
PAK1IP1	Q9NWT1	p.Ala167Ser	rs764693083	missense variant	-	CHR_HG2057_PATCH:g.10704509G>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.His168Arg	rs1318841475	missense variant	-	CHR_HG2057_PATCH:g.10704513A>G	gnomAD
PAK1IP1	Q9NWT1	p.Ile169Val	rs1406046644	missense variant	-	CHR_HG2057_PATCH:g.10704515A>G	TOPMed
PAK1IP1	Q9NWT1	p.Ile169Met	rs1230758231	missense variant	-	CHR_HG2057_PATCH:g.10704517A>G	gnomAD
PAK1IP1	Q9NWT1	p.Ile169Thr	rs749851403	missense variant	-	CHR_HG2057_PATCH:g.10704516T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val170Glu	rs938084538	missense variant	-	CHR_HG2057_PATCH:g.10704519T>A	gnomAD
PAK1IP1	Q9NWT1	p.Trp172Cys	rs201862329	missense variant	-	CHR_HG2057_PATCH:g.10704526G>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Trp172Arg	rs1348879251	missense variant	-	CHR_HG2057_PATCH:g.10704524T>C	gnomAD
PAK1IP1	Q9NWT1	p.Trp172Ter	rs1239627967	stop gained	-	CHR_HG2057_PATCH:g.10704525G>A	gnomAD
PAK1IP1	Q9NWT1	p.Ser173Thr	rs765946190	missense variant	-	CHR_HG2057_PATCH:g.10704527T>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Pro174Leu	rs753482373	missense variant	-	CHR_HG2057_PATCH:g.10704531C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Gly176Arg	rs754679174	missense variant	-	CHR_HG2057_PATCH:g.10704536G>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly176Arg	rs754679174	missense variant	-	CHR_HG2057_PATCH:g.10704536G>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly176Glu	rs778660768	missense variant	-	CHR_HG2057_PATCH:g.10704537G>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu177Asp	rs748018921	missense variant	-	CHR_HG2057_PATCH:g.10704541G>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr179His	rs1454457308	missense variant	-	CHR_HG2057_PATCH:g.10704545T>C	gnomAD
PAK1IP1	Q9NWT1	p.Val180Leu	rs375444258	missense variant	-	CHR_HG2057_PATCH:g.10704548G>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile182Thr	rs770529700	missense variant	-	CHR_HG2057_PATCH:g.10704555T>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile183Met	rs916074390	missense variant	-	CHR_HG2057_PATCH:g.10704559A>G	TOPMed
PAK1IP1	Q9NWT1	p.Gln184Ter	rs771049452	stop gained	-	CHR_HG2057_PATCH:g.10704560C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ile189Met	rs775957449	missense variant	-	CHR_HG2057_PATCH:g.10704577C>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile189Thr	rs141123017	missense variant	-	CHR_HG2057_PATCH:g.10704576T>C	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ile189Val	rs201625393	missense variant	-	CHR_HG2057_PATCH:g.10704575A>G	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr190Cys	rs762291816	missense variant	-	CHR_HG2057_PATCH:g.10704579A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr190His	rs764449402	missense variant	-	CHR_HG2057_PATCH:g.10704578T>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Tyr190Asn	rs764449402	missense variant	-	CHR_HG2057_PATCH:g.10704578T>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr194Ile	rs1261693949	missense variant	-	CHR_HG2057_PATCH:g.10704591C>T	gnomAD
PAK1IP1	Q9NWT1	p.Ala195Val	rs929059408	missense variant	-	CHR_HG2057_PATCH:g.10704594C>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser196Pro	rs765857722	missense variant	-	CHR_HG2057_PATCH:g.10704596T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ser198Asn	rs145305623	missense variant	-	CHR_HG2057_PATCH:g.10704603G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser198Ile	rs145305623	missense variant	-	CHR_HG2057_PATCH:g.10704603G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr200Ile	rs754597395	missense variant	-	CHR_HG2057_PATCH:g.10704609C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile201Thr	rs1177665734	missense variant	-	CHR_HG2057_PATCH:g.10704612T>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile201Met	rs1427729335	missense variant	-	CHR_HG2057_PATCH:g.10704613C>G	TOPMed
PAK1IP1	Q9NWT1	p.Ile207Met	rs1268338228	missense variant	-	CHR_HG2057_PATCH:g.10704631T>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile207Asn	rs1235951252	missense variant	-	CHR_HG2057_PATCH:g.10704630T>A	gnomAD
PAK1IP1	Q9NWT1	p.Ser208Phe	rs374642668	missense variant	-	CHR_HG2057_PATCH:g.10704633C>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu213Ile	rs1456355850	missense variant	-	CHR_HG2057_PATCH:g.10704647C>A	gnomAD
PAK1IP1	Q9NWT1	p.Glu215Asp	rs112971132	missense variant	-	CHR_HG2057_PATCH:g.10704749G>T	TOPMed
PAK1IP1	Q9NWT1	p.Glu215Lys	rs1462708228	missense variant	-	CHR_HG2057_PATCH:g.10704747G>A	gnomAD
PAK1IP1	Q9NWT1	p.Glu215Gly	rs759073628	missense variant	-	CHR_HG2057_PATCH:g.10704748A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val220Met	rs1042628376	missense variant	-	CHR_HG2057_PATCH:g.10704762G>A	TOPMed
PAK1IP1	Q9NWT1	p.Asp223Gly	rs762579782	missense variant	-	CHR_HG2057_PATCH:g.10704772A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Asp223Glu	rs1340442424	missense variant	-	CHR_HG2057_PATCH:g.10704773T>G	gnomAD
PAK1IP1	Q9NWT1	p.Glu225Val	rs903255182	missense variant	-	CHR_HG2057_PATCH:g.10704778A>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile227Thr	rs751362115	missense variant	-	CHR_HG2057_PATCH:g.10704784T>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile227Lys	rs751362115	missense variant	-	CHR_HG2057_PATCH:g.10704784T>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Phe230Leu	rs1248330092	missense variant	-	CHR_HG2057_PATCH:g.10704794T>G	TOPMed
PAK1IP1	Q9NWT1	p.Asp231Val	rs757218948	missense variant	-	CHR_HG2057_PATCH:g.10704796A>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Asp231Tyr	rs1227761972	missense variant	-	CHR_HG2057_PATCH:g.10704795G>T	gnomAD
PAK1IP1	Q9NWT1	p.Cys232Tyr	rs781299034	missense variant	-	CHR_HG2057_PATCH:g.10704799G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Cys232Arg	rs1482023186	missense variant	-	CHR_HG2057_PATCH:g.10704798T>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp233Asn	rs1035653928	missense variant	-	CHR_HG2057_PATCH:g.10704801G>A	TOPMed
PAK1IP1	Q9NWT1	p.Leu235Pro	rs756266685	missense variant	-	CHR_HG2057_PATCH:g.10704808T>C	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Leu235Val	rs960066635	missense variant	-	CHR_HG2057_PATCH:g.10704807C>G	TOPMed
PAK1IP1	Q9NWT1	p.Val236Ala	rs780060997	missense variant	-	CHR_HG2057_PATCH:g.10704811T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Cys237Tyr	rs1479490155	missense variant	-	CHR_HG2057_PATCH:g.10704814G>A	TOPMed
PAK1IP1	Q9NWT1	p.Leu238Phe	rs1211316676	missense variant	-	CHR_HG2057_PATCH:g.10704816C>T	TOPMed
PAK1IP1	Q9NWT1	p.Glu240Lys	rs1175682038	missense variant	-	CHR_HG2057_PATCH:g.10704822G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys242Arg	rs768806860	missense variant	-	CHR_HG2057_PATCH:g.10704829A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ala243Val	rs1436731359	missense variant	-	CHR_HG2057_PATCH:g.10704832C>T	gnomAD
PAK1IP1	Q9NWT1	p.Val248Leu	rs1389597755	missense variant	-	CHR_HG2057_PATCH:g.10707416G>T	TOPMed
PAK1IP1	Q9NWT1	p.Glu255Val	rs970831289	missense variant	-	CHR_HG2057_PATCH:g.10707438A>T	TOPMed
PAK1IP1	Q9NWT1	p.Pro257Ser	rs780155614	missense variant	-	CHR_HG2057_PATCH:g.10707443C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Pro257Ala	rs780155614	missense variant	-	CHR_HG2057_PATCH:g.10707443C>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.His259Arg	rs774340999	missense variant	-	CHR_HG2057_PATCH:g.10707450A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.His259Tyr	rs1317445830	missense variant	-	CHR_HG2057_PATCH:g.10707449C>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.His260Tyr	rs926366590	missense variant	-	CHR_HG2057_PATCH:g.10707452C>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val261Leu	rs1469627432	missense variant	-	CHR_HG2057_PATCH:g.10707455G>C	gnomAD
PAK1IP1	Q9NWT1	p.Ala265Val	rs779029025	missense variant	-	CHR_HG2057_PATCH:g.10707468C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ser267Asn	rs778178362	missense variant	-	CHR_HG2057_PATCH:g.10707474G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys272Arg	rs1179031663	missense variant	-	CHR_HG2057_PATCH:g.10707489A>G	gnomAD
PAK1IP1	Q9NWT1	p.Met273Ile	rs747502007	missense variant	-	CHR_HG2057_PATCH:g.10707493G>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys275Thr	rs771392427	missense variant	-	CHR_HG2057_PATCH:g.10707498A>C	ExAC
PAK1IP1	Q9NWT1	p.Asp279Val	rs748769773	missense variant	-	CHR_HG2057_PATCH:g.10707510A>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Asp279Gly	rs748769773	missense variant	-	CHR_HG2057_PATCH:g.10707510A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys280Glu	rs543748909	missense variant	-	CHR_HG2057_PATCH:g.10707512A>G	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys281Gln	rs1330440499	missense variant	-	CHR_HG2057_PATCH:g.10708953A>C	gnomAD
PAK1IP1	Q9NWT1	p.Lys281Arg	rs774061851	missense variant	-	CHR_HG2057_PATCH:g.10708954A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val282Ile	rs1446641274	missense variant	-	CHR_HG2057_PATCH:g.10708956G>A	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Val282Ala	rs150098092	missense variant	-	CHR_HG2057_PATCH:g.10708957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Pro284Ser	rs988724197	missense variant	-	CHR_HG2057_PATCH:g.10708962C>T	TOPMed
PAK1IP1	Q9NWT1	p.Leu286Ser	rs1301929326	missense variant	-	CHR_HG2057_PATCH:g.10708969T>C	TOPMed
PAK1IP1	Q9NWT1	p.Leu286Ile	rs1331616971	missense variant	-	CHR_HG2057_PATCH:g.10708968T>A	TOPMed
PAK1IP1	Q9NWT1	p.Leu287Phe	rs771887841	missense variant	-	CHR_HG2057_PATCH:g.10708971C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Leu287Pro	rs1422201546	missense variant	-	CHR_HG2057_PATCH:g.10708972T>C	TOPMed
PAK1IP1	Q9NWT1	p.Cys288Ser	rs1371940259	missense variant	-	CHR_HG2057_PATCH:g.10708974T>A	TOPMed
PAK1IP1	Q9NWT1	p.Glu289Ala	rs1233762706	missense variant	-	CHR_HG2057_PATCH:g.10708978A>C	gnomAD
PAK1IP1	Q9NWT1	p.Ile290Met	rs1168805160	missense variant	-	CHR_HG2057_PATCH:g.10708982A>G	TOPMed
PAK1IP1	Q9NWT1	p.Thr292Ser	rs1409058274	missense variant	-	CHR_HG2057_PATCH:g.10708986A>T	TOPMed
PAK1IP1	Q9NWT1	p.Ala294Val	rs1193312289	missense variant	-	CHR_HG2057_PATCH:g.10708993C>T	TOPMed
PAK1IP1	Q9NWT1	p.Thr297Met	rs759587941	missense variant	-	CHR_HG2057_PATCH:g.10709002C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Leu299Phe	rs541330686	missense variant	-	CHR_HG2057_PATCH:g.10709007C>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ala307Thr	rs1484061175	missense variant	-	CHR_HG2057_PATCH:g.10709031G>A	TOPMed
PAK1IP1	Q9NWT1	p.Ala307Val	rs1193510970	missense variant	-	CHR_HG2057_PATCH:g.10709032C>T	gnomAD
PAK1IP1	Q9NWT1	p.Met309Val	rs764331618	missense variant	-	CHR_HG2057_PATCH:g.10709037A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu311Lys	rs971167647	missense variant	-	CHR_HG2057_PATCH:g.10709043G>A	TOPMed
PAK1IP1	Q9NWT1	p.Pro314Ser	rs751862442	missense variant	-	CHR_HG2057_PATCH:g.10709052C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Pro315Leu	rs757564742	missense variant	-	CHR_HG2057_PATCH:g.10709056C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Pro321Ser	rs781668945	missense variant	-	CHR_HG2057_PATCH:g.10709073C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu325Val	rs762152013	missense variant	-	CHR_HG2057_PATCH:g.10709247A>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ser327Pro	rs370741204	missense variant	-	CHR_HG2057_PATCH:g.10709252T>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser327Phe	rs750835827	missense variant	-	CHR_HG2057_PATCH:g.10709253C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Glu333Asp	rs201629252	missense variant	-	CHR_HG2057_PATCH:g.10709272G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly335Ser	rs1441369764	missense variant	-	CHR_HG2057_PATCH:g.10709276G>A	gnomAD
PAK1IP1	Q9NWT1	p.Val338Met	rs757989245	missense variant	-	CHR_HG2057_PATCH:g.10709285G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Val338Ala	rs375199458	missense variant	-	CHR_HG2057_PATCH:g.10709286T>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys340Glu	rs770667105	missense variant	-	CHR_HG2057_PATCH:g.10709291A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu342Gln	rs149331925	missense variant	-	CHR_HG2057_PATCH:g.10709297G>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Glu342Ala	rs745708831	missense variant	-	CHR_HG2057_PATCH:g.10709298A>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Arg344Leu	rs190974202	missense variant	-	CHR_HG2057_PATCH:g.10709304G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg344Gln	rs190974202	missense variant	-	CHR_HG2057_PATCH:g.10709304G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg344Trp	rs769673112	missense variant	-	CHR_HG2057_PATCH:g.10709303C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser345Pro	rs774539405	missense variant	-	CHR_HG2057_PATCH:g.10709306T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys350Glu	rs761905760	missense variant	-	CHR_HG2057_PATCH:g.10709321A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys351Glu	rs1417396834	missense variant	-	CHR_HG2057_PATCH:g.10709324A>G	TOPMed
PAK1IP1	Q9NWT1	p.Arg352Cys	rs147437498	missense variant	-	CHR_HG2057_PATCH:g.10709327C>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Arg352His	rs750701531	missense variant	-	CHR_HG2057_PATCH:g.10709328G>A	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Gly353Cys	rs532654988	missense variant	-	CHR_HG2057_PATCH:g.10709330G>T	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Gly353Ser	rs532654988	missense variant	-	CHR_HG2057_PATCH:g.10709330G>A	1000Genomes,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr355Arg	rs548071451	missense variant	-	CHR_HG2057_PATCH:g.10709337C>G	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Thr355Ser	rs138082481	missense variant	-	CHR_HG2057_PATCH:g.10709336A>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp357Tyr	rs1468653869	missense variant	-	CHR_HG2057_PATCH:g.10709342G>T	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Asp357His	rs1468653869	missense variant	-	CHR_HG2057_PATCH:g.10709342G>C	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ser358Gly	rs763494608	missense variant	-	CHR_HG2057_PATCH:g.10709345A>G	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys359Glu	rs34857240	missense variant	-	CHR_HG2057_PATCH:g.10709348A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr362Ile	rs1381592765	missense variant	-	CHR_HG2057_PATCH:g.10709358C>T	TOPMed
PAK1IP1	Q9NWT1	p.Thr362Ala	rs147259600	missense variant	-	CHR_HG2057_PATCH:g.10709357A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile368Val	rs749199819	missense variant	-	CHR_HG2057_PATCH:g.10709375A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ile368Thr	rs1437708870	missense variant	-	CHR_HG2057_PATCH:g.10709376T>C	TOPMed
PAK1IP1	Q9NWT1	p.Ile368Met	rs768619766	missense variant	-	CHR_HG2057_PATCH:g.10709377A>G	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ser369Pro	rs201265248	missense variant	-	CHR_HG2057_PATCH:g.10709378T>C	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys372Arg	rs1296638087	missense variant	-	CHR_HG2057_PATCH:g.10709388A>G	gnomAD
PAK1IP1	Q9NWT1	p.Val376Ile	rs72821574	missense variant	-	CHR_HG2057_PATCH:g.10709399G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Met378Ile	rs150834153	missense variant	-	CHR_HG2057_PATCH:g.10709407G>T	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys384Arg	rs1383628115	missense variant	-	CHR_HG2057_PATCH:g.10709424A>G	TOPMed
PAK1IP1	Q9NWT1	p.Lys384Glu	rs747636201	missense variant	-	CHR_HG2057_PATCH:g.10709423A>G	TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Lys386Asn	rs139264536	missense variant	-	CHR_HG2057_PATCH:g.10709431G>C	ESP,ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Ile388Met	rs995826338	missense variant	-	CHR_HG2057_PATCH:g.10709437A>G	TOPMed
PAK1IP1	Q9NWT1	p.Ile388Val	rs537437372	missense variant	-	CHR_HG2057_PATCH:g.10709435A>G	1000Genomes,ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Lys389Arg	rs1340931492	missense variant	-	CHR_HG2057_PATCH:g.10709439A>G	gnomAD
PAK1IP1	Q9NWT1	p.Thr390Ile	rs764243590	missense variant	-	CHR_HG2057_PATCH:g.10709442C>T	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr390Lys	rs764243590	missense variant	-	CHR_HG2057_PATCH:g.10709442C>A	ExAC,TOPMed,gnomAD
PAK1IP1	Q9NWT1	p.Thr390Ala	rs1195879678	missense variant	-	CHR_HG2057_PATCH:g.10709441A>G	gnomAD
PAK1IP1	Q9NWT1	p.Met391Arg	rs1484665335	missense variant	-	CHR_HG2057_PATCH:g.10709445T>G	gnomAD
PAK1IP1	Q9NWT1	p.Gln392Leu	rs765805578	missense variant	-	CHR_HG2057_PATCH:g.10709448A>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Gln392Ter	rs760088755	stop gained	-	CHR_HG2057_PATCH:g.10709447C>T	ExAC,gnomAD
PAK1IP1	Q9NWT1	p.Ter393Ser	rs750985706	stop lost	-	CHR_HG2057_PATCH:g.10709451G>C	ExAC
IMPAD1	Q9NX62	p.Pro3Leu	rs1445242968	missense variant	-	NC_000008.11:g.56993578G>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Met4Leu	rs752883986	missense variant	-	NC_000008.11:g.56993576T>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Met4Val	rs752883986	missense variant	-	NC_000008.11:g.56993576T>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Gly12Val	rs904296684	missense variant	-	NC_000008.11:g.56993551C>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly12Arg	rs778891336	missense variant	-	NC_000008.11:g.56993552C>G	TOPMed
IMPAD1	Q9NX62	p.Ala14Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56993546C>T	NCI-TCGA
IMPAD1	Q9NX62	p.Val15Leu	rs767591752	missense variant	-	NC_000008.11:g.56993543C>G	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Val15Met	rs767591752	missense variant	-	NC_000008.11:g.56993543C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Cys17Ser	rs1286047293	missense variant	-	NC_000008.11:g.56993536C>G	TOPMed
IMPAD1	Q9NX62	p.Cys17Gly	rs759502337	missense variant	-	NC_000008.11:g.56993537A>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly22Ser	rs1228813543	missense variant	-	NC_000008.11:g.56993522C>T	TOPMed
IMPAD1	Q9NX62	p.Val23Leu	rs1316564092	missense variant	-	NC_000008.11:g.56993519C>G	gnomAD
IMPAD1	Q9NX62	p.Ala33Asp	rs761908415	missense variant	-	NC_000008.11:g.56993488G>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ala33Ser	rs765253964	missense variant	-	NC_000008.11:g.56993489C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Gly34Arg	rs1367501011	missense variant	-	NC_000008.11:g.56993486C>G	gnomAD
IMPAD1	Q9NX62	p.Phe39Cys	rs776502522	missense variant	-	NC_000008.11:g.56993470A>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Gly40Arg	rs1184270689	missense variant	-	NC_000008.11:g.56993468C>G	gnomAD
IMPAD1	Q9NX62	p.Gly42Ser	rs1223820299	missense variant	-	NC_000008.11:g.56993462C>T	gnomAD
IMPAD1	Q9NX62	p.Gly43Ser	rs754849895	missense variant	-	NC_000008.11:g.56993459C>T	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly43Cys	rs754849895	missense variant	-	NC_000008.11:g.56993459C>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly46Ser	rs1160676872	missense variant	-	NC_000008.11:g.56993450C>T	TOPMed
IMPAD1	Q9NX62	p.Gly46Arg	rs1160676872	missense variant	-	NC_000008.11:g.56993450C>G	TOPMed
IMPAD1	Q9NX62	p.Ala50Val	rs1279700049	missense variant	-	NC_000008.11:g.56993437G>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly51Arg	rs1166093463	missense variant	-	NC_000008.11:g.56993435C>G	TOPMed
IMPAD1	Q9NX62	p.Gly51Glu	rs775038970	missense variant	-	NC_000008.11:g.56993434C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Pro52Leu	rs1442414390	missense variant	-	NC_000008.11:g.56993431G>A	TOPMed
IMPAD1	Q9NX62	p.Pro52Ser	rs745353531	missense variant	-	NC_000008.11:g.56993432G>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Pro52Ala	rs745353531	missense variant	-	NC_000008.11:g.56993432G>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala53Val	rs1353982271	missense variant	-	NC_000008.11:g.56993428G>A	TOPMed
IMPAD1	Q9NX62	p.Ala53Thr	rs1347387981	missense variant	-	NC_000008.11:g.56993429C>T	gnomAD
IMPAD1	Q9NX62	p.Ala54Val	rs1385770174	missense variant	-	NC_000008.11:g.56993425G>A	gnomAD
IMPAD1	Q9NX62	p.Ala54Thr	rs757690431	missense variant	-	NC_000008.11:g.56993426C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ala55Gly	rs749806114	missense variant	-	NC_000008.11:g.56993422G>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala55Val	rs749806114	missense variant	-	NC_000008.11:g.56993422G>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asp57Tyr	rs1361729558	missense variant	-	NC_000008.11:g.56993417C>A	TOPMed
IMPAD1	Q9NX62	p.Asp57Asn	COSM3779291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56993417C>T	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Gly58Arg	rs560769519	missense variant	-	NC_000008.11:g.56993414C>G	1000Genomes,ExAC,gnomAD
IMPAD1	Q9NX62	p.Gly59Cys	rs756466129	missense variant	-	NC_000008.11:g.56993411C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Gly59Asp	rs147738902	missense variant	-	NC_000008.11:g.56993410C>T	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Thr60Ile	rs767610613	missense variant	-	NC_000008.11:g.56993407G>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Leu63Phe	rs751687995	missense variant	-	NC_000008.11:g.56993397C>G	ExAC,gnomAD
IMPAD1	Q9NX62	p.Arg64Leu	rs776735539	missense variant	-	NC_000008.11:g.56993395C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Arg64Gly	rs761785565	missense variant	-	NC_000008.11:g.56993396G>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Arg64Ser	rs761785565	missense variant	-	NC_000008.11:g.56993396G>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Arg64Cys	COSM3413074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56993396G>A	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Glu65Gln	rs763945623	missense variant	-	NC_000008.11:g.56993393C>G	ExAC,gnomAD
IMPAD1	Q9NX62	p.Glu65Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56993393C>T	NCI-TCGA
IMPAD1	Q9NX62	p.Met66Thr	rs1472661970	missense variant	-	NC_000008.11:g.56993389A>G	TOPMed
IMPAD1	Q9NX62	p.Met66Ile	rs1347178892	missense variant	-	NC_000008.11:g.56993388C>G	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala68Val	rs1252434473	missense variant	-	NC_000008.11:g.56993383G>A	gnomAD
IMPAD1	Q9NX62	p.Val69Met	rs1435713372	missense variant	-	NC_000008.11:g.56993381C>T	gnomAD
IMPAD1	Q9NX62	p.Ser70Leu	rs775406965	missense variant	-	NC_000008.11:g.56993377G>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Val71Leu	rs745537127	missense variant	-	NC_000008.11:g.56993375C>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Val71Met	rs745537127	missense variant	-	NC_000008.11:g.56993375C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala73Val	rs1177587665	missense variant	-	NC_000008.11:g.56993368G>A	gnomAD
IMPAD1	Q9NX62	p.Ala73Thr	rs770447365	missense variant	-	NC_000008.11:g.56993369C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ala74Thr	rs546867419	missense variant	-	NC_000008.11:g.56993366C>T	1000Genomes,gnomAD
IMPAD1	Q9NX62	p.Val75Ala	rs1280894970	missense variant	-	NC_000008.11:g.56993362A>G	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Val75Asp	rs1280894970	missense variant	-	NC_000008.11:g.56993362A>T	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Val75Ile	rs983473550	missense variant	-	NC_000008.11:g.56993363C>T	TOPMed
IMPAD1	Q9NX62	p.Gly77Arg	rs1338531504	missense variant	-	NC_000008.11:g.56993357C>G	TOPMed
IMPAD1	Q9NX62	p.Asp79Gly	rs756692741	missense variant	-	NC_000008.11:g.56993350T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asp79Ala	rs756692741	missense variant	-	NC_000008.11:g.56993350T>G	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asp79Tyr	rs1423540835	missense variant	-	NC_000008.11:g.56993351C>A	gnomAD
IMPAD1	Q9NX62	p.Glu80Asp	rs1345897724	missense variant	-	NC_000008.11:g.56993346C>G	gnomAD
IMPAD1	Q9NX62	p.Val81Gly	rs189210871	missense variant	-	NC_000008.11:g.56993344A>C	1000Genomes
IMPAD1	Q9NX62	p.Val81Met	rs748449103	missense variant	-	NC_000008.11:g.56993345C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Arg85His	rs751845541	missense variant	-	NC_000008.11:g.56993332C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Arg85Cys	rs371716301	missense variant	-	NC_000008.11:g.56993333G>A	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asn88Ser	rs780236254	missense variant	-	NC_000008.11:g.56993323T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Leu90Phe	rs750573329	missense variant	-	NC_000008.11:g.56993318G>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Glu92Asp	rs763919379	missense variant	-	NC_000008.11:g.56993310C>A	NCI-TCGA
IMPAD1	Q9NX62	p.Glu92Asp	rs763919379	missense variant	-	NC_000008.11:g.56993310C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ser94Phe	rs368994525	missense variant	-	NC_000008.11:g.56993305G>A	ESP,ExAC,gnomAD
IMPAD1	Q9NX62	p.Ser94Cys	rs368994525	missense variant	-	NC_000008.11:g.56993305G>C	ESP,ExAC,gnomAD
IMPAD1	Q9NX62	p.Lys95Glu	rs1340139892	missense variant	-	NC_000008.11:g.56993303T>C	NCI-TCGA
IMPAD1	Q9NX62	p.Lys95Glu	rs1340139892	missense variant	-	NC_000008.11:g.56993303T>C	TOPMed
IMPAD1	Q9NX62	p.Gly96Glu	rs1364550220	missense variant	-	NC_000008.11:g.56993299C>T	gnomAD
IMPAD1	Q9NX62	p.Gly96Val	rs1364550220	missense variant	-	NC_000008.11:g.56993299C>A	gnomAD
IMPAD1	Q9NX62	p.Lys97Arg	rs767354346	missense variant	-	NC_000008.11:g.56993296T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Thr98Ser	rs759136888	missense variant	-	NC_000008.11:g.56993294T>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Arg99Ser	rs1411012084	missense variant	-	NC_000008.11:g.56993291G>T	gnomAD
IMPAD1	Q9NX62	p.Arg99Leu	rs1395636982	missense variant	-	NC_000008.11:g.56993290C>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Glu100Gln	rs367837388	missense variant	-	NC_000008.11:g.56993288C>G	ESP
IMPAD1	Q9NX62	p.Glu100Asp	rs1167277457	missense variant	-	NC_000008.11:g.56993286C>A	gnomAD
IMPAD1	Q9NX62	p.Ala102Val	rs112318196	missense variant	-	NC_000008.11:g.56993281G>A	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala102Pro	rs1298702411	missense variant	-	NC_000008.11:g.56993282C>G	gnomAD
IMPAD1	Q9NX62	p.Glu103Lys	rs1183771091	missense variant	-	NC_000008.11:g.56993279C>T	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Glu103Ter	rs1183771091	stop gained	-	NC_000008.11:g.56993279C>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asp104Asn	rs772766265	missense variant	-	NC_000008.11:g.56993276C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Asp104Gly	rs559655615	missense variant	-	NC_000008.11:g.56993275T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Lys105Glu	rs1209248902	missense variant	-	NC_000008.11:g.56993273T>C	gnomAD
IMPAD1	Q9NX62	p.Met106Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56993270T>G	NCI-TCGA
IMPAD1	Q9NX62	p.Ser108Ter	RCV000149814	frameshift	Chondrodysplasia with joint dislocations, GPAPP type	NC_000008.11:g.56993262del	ClinVar
IMPAD1	Q9NX62	p.Ser108Asn	rs748695366	missense variant	-	NC_000008.11:g.56993263C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ser108Thr	rs748695366	missense variant	-	NC_000008.11:g.56993263C>G	ExAC,gnomAD
IMPAD1	Q9NX62	p.Asp110His	rs374711732	missense variant	-	NC_000008.11:g.56993258C>G	ESP,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asp110Asn	rs374711732	missense variant	-	NC_000008.11:g.56993258C>T	ESP,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Val111Met	rs769088343	missense variant	-	NC_000008.11:g.56993255C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Val111Leu	rs769088343	missense variant	-	NC_000008.11:g.56993255C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ser113Ala	COSM4856411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56993249A>C	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Arg115Cys	rs1175973958	missense variant	-	NC_000008.11:g.56993243G>A	NCI-TCGA
IMPAD1	Q9NX62	p.Arg115Leu	rs1306674316	missense variant	-	NC_000008.11:g.56993242C>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Arg115Cys	rs1175973958	missense variant	-	NC_000008.11:g.56993243G>A	gnomAD
IMPAD1	Q9NX62	p.Lys116Arg	rs145484021	missense variant	-	NC_000008.11:g.56993239T>C	ESP,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Lys116Asn	rs945747430	missense variant	-	NC_000008.11:g.56993238C>G	TOPMed
IMPAD1	Q9NX62	p.Met117Ile	rs758745200	missense variant	-	NC_000008.11:g.56993235C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Tyr119His	RCV000343279	missense variant	Chondrodysplasia	NC_000008.11:g.56993231A>G	ClinVar
IMPAD1	Q9NX62	p.Tyr119Cys	rs750520263	missense variant	-	NC_000008.11:g.56993230T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Tyr119His	rs886063020	missense variant	-	NC_000008.11:g.56993231A>G	-
IMPAD1	Q9NX62	p.Tyr119Phe	rs750520263	missense variant	-	NC_000008.11:g.56993230T>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Tyr119Phe	rs750520263	missense variant	-	NC_000008.11:g.56993230T>A	NCI-TCGA
IMPAD1	Q9NX62	p.Leu120Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56993227A>G	NCI-TCGA
IMPAD1	Q9NX62	p.Lys122Asn	rs752698460	missense variant	-	NC_000008.11:g.56993220C>G	ExAC,gnomAD
IMPAD1	Q9NX62	p.Lys122Asn	rs752698460	missense variant	-	NC_000008.11:g.56993220C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ala124Ser	rs767173166	missense variant	-	NC_000008.11:g.56993216C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Pro126Arg	rs1202905686	missense variant	-	NC_000008.11:g.56993209G>C	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Pro126Leu	rs1202905686	missense variant	-	NC_000008.11:g.56993209G>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Pro126Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56993210G>T	NCI-TCGA
IMPAD1	Q9NX62	p.Ser127Arg	rs1229746286	missense variant	-	NC_000008.11:g.56993207T>G	TOPMed
IMPAD1	Q9NX62	p.Val128Phe	rs759294651	missense variant	-	NC_000008.11:g.56993204C>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ile130Ser	rs1202615244	missense variant	-	NC_000008.11:g.56980196A>C	gnomAD
IMPAD1	Q9NX62	p.Ile130Val	COSM4915529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56980197T>C	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Thr132Ala	rs1429774253	missense variant	-	NC_000008.11:g.56980191T>C	gnomAD
IMPAD1	Q9NX62	p.His135Tyr	rs1323863706	missense variant	-	NC_000008.11:g.56980182G>A	gnomAD
IMPAD1	Q9NX62	p.Val136Ala	rs757988742	missense variant	-	NC_000008.11:g.56980178A>G	ExAC,gnomAD
IMPAD1	Q9NX62	p.Val136Leu	rs766168164	missense variant	-	NC_000008.11:g.56980179C>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Val136Met	rs766168164	missense variant	-	NC_000008.11:g.56980179C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala138Val	rs764614713	missense variant	-	NC_000008.11:g.56980172G>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ala138Thr	rs375488265	missense variant	-	NC_000008.11:g.56980173C>T	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala139Gly	rs761357561	missense variant	-	NC_000008.11:g.56980169G>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala139Asp	rs761357561	missense variant	-	NC_000008.11:g.56980169G>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala139Pro	rs1462017672	missense variant	-	NC_000008.11:g.56980170C>G	gnomAD
IMPAD1	Q9NX62	p.Asp140Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56980167C>T	NCI-TCGA
IMPAD1	Q9NX62	p.Gln141His	rs923337791	missense variant	-	NC_000008.11:g.56980162C>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Glu142Lys	rs1312183920	missense variant	-	NC_000008.11:g.56980161C>T	gnomAD
IMPAD1	Q9NX62	p.Trp146Leu	rs764689405	missense variant	-	NC_000008.11:g.56980148C>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asp147Asn	rs761335643	missense variant	-	NC_000008.11:g.56980146C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Asp147Gly	rs1318074167	missense variant	-	NC_000008.11:g.56980145T>C	gnomAD
IMPAD1	Q9NX62	p.Lys149Glu	rs148440829	missense variant	-	NC_000008.11:g.56980140T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Pro151Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56980134G>A	NCI-TCGA
IMPAD1	Q9NX62	p.Asp153Ala	rs964832400	missense variant	-	NC_000008.11:g.56980127T>G	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asp153Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56980128C>T	NCI-TCGA
IMPAD1	Q9NX62	p.Glu157Gln	rs774598791	missense variant	-	NC_000008.11:g.56980116C>G	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Thr160Ala	rs777781538	missense variant	-	NC_000008.11:g.56980107T>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Pro161Ala	rs1334963797	missense variant	-	NC_000008.11:g.56980104G>C	gnomAD
IMPAD1	Q9NX62	p.Glu163Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56980098C>G	NCI-TCGA
IMPAD1	Q9NX62	p.Glu163Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.56980098C>A	NCI-TCGA
IMPAD1	Q9NX62	p.Pro165Ala	rs755239746	missense variant	-	NC_000008.11:g.56980092G>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Glu167Asp	rs746962174	missense variant	-	NC_000008.11:g.56980084T>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Thr170Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56980076G>A	NCI-TCGA
IMPAD1	Q9NX62	p.Ile173Val	rs779777456	missense variant	-	NC_000008.11:g.56980068T>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Asp174Glu	rs758221934	missense variant	-	NC_000008.11:g.56980063G>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asp174Glu	rs758221934	missense variant	-	NC_000008.11:g.56980063G>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asp174GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.56980047_56980066GTGTAGCATCAAGTGGGTCA>-	NCI-TCGA
IMPAD1	Q9NX62	p.Asp174His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56980065C>G	NCI-TCGA
IMPAD1	Q9NX62	p.Pro175Ala	rs1448995954	missense variant	-	NC_000008.11:g.56980062G>C	gnomAD
IMPAD1	Q9NX62	p.Asp177Asn	rs387907101	missense variant	Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)	NC_000008.11:g.56980056C>T	UniProt,dbSNP
IMPAD1	Q9NX62	p.Asp177Asn	VAR_065847	missense variant	Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)	NC_000008.11:g.56980056C>T	UniProt
IMPAD1	Q9NX62	p.Asp177Asn	rs387907101	missense variant	-	NC_000008.11:g.56980056C>T	-
IMPAD1	Q9NX62	p.Asp177Asn	RCV000024085	missense variant	Chondrodysplasia with joint dislocations, GPAPP type	NC_000008.11:g.56980056C>T	ClinVar
IMPAD1	Q9NX62	p.Ala178Asp	rs1207958863	missense variant	-	NC_000008.11:g.56980052G>T	gnomAD
IMPAD1	Q9NX62	p.Tyr182His	rs1017662026	missense variant	-	NC_000008.11:g.56980041A>G	TOPMed
IMPAD1	Q9NX62	p.Thr183Pro	rs387907102	missense variant	Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)	NC_000008.11:g.56980038T>G	UniProt,dbSNP
IMPAD1	Q9NX62	p.Thr183Pro	VAR_065848	missense variant	Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)	NC_000008.11:g.56980038T>G	UniProt
IMPAD1	Q9NX62	p.Thr183Pro	rs387907102	missense variant	-	NC_000008.11:g.56980038T>G	-
IMPAD1	Q9NX62	p.Thr183Pro	RCV000024086	missense variant	Chondrodysplasia with joint dislocations, GPAPP type	NC_000008.11:g.56980038T>G	ClinVar
IMPAD1	Q9NX62	p.Glu184Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56980035C>T	NCI-TCGA
IMPAD1	Q9NX62	p.Asp185Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56978142T>G	NCI-TCGA
IMPAD1	Q9NX62	p.Arg187Ter	rs387907103	stop gained	-	NC_000008.11:g.56978137G>A	-
IMPAD1	Q9NX62	p.Arg187Gln	rs139520829	missense variant	-	NC_000008.11:g.56978136C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Arg187Gln	rs139520829	missense variant	-	NC_000008.11:g.56978136C>T	NCI-TCGA,NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Arg187Ter	RCV000578745	nonsense	-	NC_000008.11:g.56978137G>A	ClinVar
IMPAD1	Q9NX62	p.Arg187Ter	RCV000024087	nonsense	Chondrodysplasia with joint dislocations, GPAPP type	NC_000008.11:g.56978137G>A	ClinVar
IMPAD1	Q9NX62	p.Lys188Arg	rs756871234	missense variant	-	NC_000008.11:g.56978133T>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Val190Ile	rs376319160	missense variant	-	NC_000008.11:g.56978128C>T	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Thr192Ser	rs185977778	missense variant	-	NC_000008.11:g.56978121G>C	1000Genomes
IMPAD1	Q9NX62	p.Met193Val	rs1038427248	missense variant	-	NC_000008.11:g.56978119T>C	TOPMed
IMPAD1	Q9NX62	p.Met193Leu	rs1038427248	missense variant	-	NC_000008.11:g.56978119T>G	TOPMed
IMPAD1	Q9NX62	p.Met193Thr	rs752301054	missense variant	-	NC_000008.11:g.56978118A>G	ExAC,gnomAD
IMPAD1	Q9NX62	p.Val194Leu	rs1243284607	missense variant	-	NC_000008.11:g.56978116C>A	TOPMed
IMPAD1	Q9NX62	p.Cys195Arg	rs760025895	missense variant	-	NC_000008.11:g.56978113A>G	ExAC,gnomAD
IMPAD1	Q9NX62	p.Cys195Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56978112C>A	NCI-TCGA
IMPAD1	Q9NX62	p.Val196Gly	rs751885193	missense variant	-	NC_000008.11:g.56978109A>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Val198Ile	rs1186052075	missense variant	-	NC_000008.11:g.56978104C>T	TOPMed
IMPAD1	Q9NX62	p.Val198Glu	COSM3650010	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56978103A>T	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Pro202Thr	rs553280526	missense variant	-	NC_000008.11:g.56978092G>T	1000Genomes,ExAC,gnomAD
IMPAD1	Q9NX62	p.Pro202Ser	rs553280526	missense variant	-	NC_000008.11:g.56978092G>A	1000Genomes,ExAC,gnomAD
IMPAD1	Q9NX62	p.Pro202Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56978091G>A	NCI-TCGA
IMPAD1	Q9NX62	p.Met203Thr	rs1422759885	missense variant	-	NC_000008.11:g.56978088A>G	TOPMed
IMPAD1	Q9NX62	p.Met203Val	rs761861820	missense variant	-	NC_000008.11:g.56978089T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly205Glu	rs139335977	missense variant	-	NC_000008.11:g.56978082C>T	ESP,TOPMed
IMPAD1	Q9NX62	p.Val206Ile	rs1257764999	missense variant	-	NC_000008.11:g.56978080C>T	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ile207Val	rs536533447	missense variant	-	NC_000008.11:g.56978077T>C	1000Genomes,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Lys209Glu	rs1319915788	missense variant	-	NC_000008.11:g.56978071T>C	TOPMed
IMPAD1	Q9NX62	p.Pro210Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56978068G>A	NCI-TCGA
IMPAD1	Q9NX62	p.Ser212Phe	COSM2719625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56978061G>A	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Glu213Ter	rs770658609	stop gained	-	NC_000008.11:g.56978059C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Glu213Lys	rs770658609	missense variant	-	NC_000008.11:g.56978059C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Glu213Lys	rs770658609	missense variant	-	NC_000008.11:g.56978059C>T	NCI-TCGA,NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Thr215Arg	rs777543066	missense variant	-	NC_000008.11:g.56978052G>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Trp217Cys	rs769502331	missense variant	-	NC_000008.11:g.56966348C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Trp217Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.56966349_56966350insTTCTT	NCI-TCGA
IMPAD1	Q9NX62	p.Ala218Ser	rs376366002	missense variant	-	NC_000008.11:g.56966347C>A	ESP,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala218Ser	RCV000288038	missense variant	Chondrodysplasia	NC_000008.11:g.56966347C>A	ClinVar
IMPAD1	Q9NX62	p.Ala218Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56966347C>T	NCI-TCGA
IMPAD1	Q9NX62	p.Met219Ile	rs780703417	missense variant	-	NC_000008.11:g.56966342C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Met219Val	rs747815279	missense variant	-	NC_000008.11:g.56966344T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly223Val	rs754477347	missense variant	-	NC_000008.11:g.56966331C>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala228Pro	rs1021983291	missense variant	-	NC_000008.11:g.56966317C>G	gnomAD
IMPAD1	Q9NX62	p.Ala228Thr	rs1021983291	missense variant	-	NC_000008.11:g.56966317C>T	gnomAD
IMPAD1	Q9NX62	p.Ala228Val	rs1410968908	missense variant	-	NC_000008.11:g.56966316G>A	gnomAD
IMPAD1	Q9NX62	p.Arg229Cys	rs1046663	missense variant	-	NC_000008.11:g.56966314G>A	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Arg229His	rs758965196	missense variant	-	NC_000008.11:g.56966313C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Arg229Ser	rs1046663	missense variant	-	NC_000008.11:g.56966314G>T	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ser231Tyr	rs750786108	missense variant	-	NC_000008.11:g.56966307G>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Asn233Ser	rs1406787822	missense variant	-	NC_000008.11:g.56966301T>C	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Lys235Glu	rs778956808	missense variant	-	NC_000008.11:g.56966296T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Lys235Arg	rs367881909	missense variant	-	NC_000008.11:g.56966295T>C	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Lys235Asn	COSM1100689	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56966294C>A	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Arg238Lys	rs1407637616	missense variant	-	NC_000008.11:g.56966286C>T	gnomAD
IMPAD1	Q9NX62	p.Arg238Gly	rs764414017	missense variant	-	NC_000008.11:g.56966287T>C	ExAC,TOPMed
IMPAD1	Q9NX62	p.Ile239Phe	rs1253797528	missense variant	-	NC_000008.11:g.56966284T>A	gnomAD
IMPAD1	Q9NX62	p.Val240Ile	rs775694914	missense variant	-	NC_000008.11:g.56966281C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ser242Cys	rs953424431	missense variant	-	NC_000008.11:g.56966274G>C	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ser242Phe	rs953424431	missense variant	-	NC_000008.11:g.56966274G>A	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Arg243Cys	rs750461430	missense variant	-	NC_000008.11:g.56966272G>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Arg243His	rs148507660	missense variant	-	NC_000008.11:g.56966271C>T	1000Genomes,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ser246Ala	rs1229333132	missense variant	-	NC_000008.11:g.56966263A>C	gnomAD
IMPAD1	Q9NX62	p.Ser246Leu	COSM3650007	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56966262G>A	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Gly247Arg	rs1331666989	missense variant	-	NC_000008.11:g.56966260C>T	gnomAD
IMPAD1	Q9NX62	p.Gly247Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56966260C>A	NCI-TCGA
IMPAD1	Q9NX62	p.Met248Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56966256A>G	NCI-TCGA
IMPAD1	Q9NX62	p.Val252Gly	rs1165697396	missense variant	-	NC_000008.11:g.56966244A>C	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Val252Leu	rs1286959037	missense variant	-	NC_000008.11:g.56966245C>G	gnomAD
IMPAD1	Q9NX62	p.Ala253Ser	rs747764009	missense variant	-	NC_000008.11:g.56966242C>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala253Thr	rs747764009	missense variant	-	NC_000008.11:g.56966242C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gln255Glu	rs776116783	missense variant	-	NC_000008.11:g.56966236G>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Thr256Ala	rs768405549	missense variant	-	NC_000008.11:g.56966233T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Thr256Ile	rs562200224	missense variant	-	NC_000008.11:g.56966232G>A	1000Genomes,ExAC,gnomAD
IMPAD1	Q9NX62	p.Phe257Ser	rs1457534707	missense variant	-	NC_000008.11:g.56966229A>G	gnomAD
IMPAD1	Q9NX62	p.Phe257Val	rs779684307	missense variant	-	NC_000008.11:g.56966230A>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Gln260His	rs898309252	missense variant	-	NC_000008.11:g.56966219C>G	TOPMed
IMPAD1	Q9NX62	p.Gln260Ter	rs1195420304	stop gained	-	NC_000008.11:g.56966221G>A	gnomAD
IMPAD1	Q9NX62	p.Ile263Val	rs745323535	missense variant	-	NC_000008.11:g.56966212T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ile263Leu	COSM1100688	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56966212T>G	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Pro265Gln	rs1165691902	missense variant	-	NC_000008.11:g.56966205G>T	TOPMed
IMPAD1	Q9NX62	p.Ala266Val	rs1252537616	missense variant	-	NC_000008.11:g.56966202G>A	gnomAD
IMPAD1	Q9NX62	p.Gly268Ser	rs764206111	missense variant	-	NC_000008.11:g.56966197C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Gly268Asp	rs1466492099	missense variant	-	NC_000008.11:g.56966196C>T	gnomAD
IMPAD1	Q9NX62	p.Ala269Ser	rs756422743	missense variant	-	NC_000008.11:g.56966194C>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala269Thr	rs756422743	missense variant	-	NC_000008.11:g.56966194C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala269Gly	COSM71163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56966193G>C	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Val273Ile	rs756231127	missense variant	-	NC_000008.11:g.56964056C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Asp278Gly	rs752984748	missense variant	-	NC_000008.11:g.56964040T>C	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Val279Met	rs781380828	missense variant	-	NC_000008.11:g.56964038C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Val279Gly	rs1253080787	missense variant	-	NC_000008.11:g.56964037A>C	gnomAD
IMPAD1	Q9NX62	p.Pro280Thr	rs1455815981	missense variant	-	NC_000008.11:g.56964035G>T	TOPMed
IMPAD1	Q9NX62	p.Pro280Arg	rs755077755	missense variant	-	NC_000008.11:g.56964034G>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Pro280Leu	COSM3900785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56964034G>A	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Asp281Asn	rs1483722374	missense variant	-	NC_000008.11:g.56964032C>T	gnomAD
IMPAD1	Q9NX62	p.Asp281Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56964032C>A	NCI-TCGA
IMPAD1	Q9NX62	p.Ser283Asn	rs751739178	missense variant	-	NC_000008.11:g.56964025C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Glu285Gly	rs765253748	missense variant	-	NC_000008.11:g.56964019T>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Lys286Glu	rs112433249	missense variant	-	NC_000008.11:g.56964017T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Lys286Glu	RCV000346686	missense variant	Chondrodysplasia	NC_000008.11:g.56964017T>C	ClinVar
IMPAD1	Q9NX62	p.Ala287Val	COSM1457608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56964013G>A	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Val293Met	rs755483771	missense variant	-	NC_000008.11:g.56963996C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Val293Glu	rs763967311	missense variant	-	NC_000008.11:g.56963995A>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Thr294Ala	rs1322076069	missense variant	-	NC_000008.11:g.56963993T>C	TOPMed
IMPAD1	Q9NX62	p.Thr294Arg	rs1331030877	missense variant	-	NC_000008.11:g.56963992G>C	TOPMed
IMPAD1	Q9NX62	p.Tyr295Cys	rs1226146739	missense variant	-	NC_000008.11:g.56963989T>C	TOPMed
IMPAD1	Q9NX62	p.Tyr295SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.56963989_56963990insG	NCI-TCGA
IMPAD1	Q9NX62	p.Ile296Val	rs775242998	missense variant	-	NC_000008.11:g.56963987T>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Trp299Gly	rs759030684	missense variant	-	NC_000008.11:g.56963978A>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Cys302Tyr	rs1279479463	missense variant	-	NC_000008.11:g.56963968C>T	gnomAD
IMPAD1	Q9NX62	p.Gly304Arg	rs1393066587	missense variant	-	NC_000008.11:g.56963963C>G	gnomAD
IMPAD1	Q9NX62	p.Gly304Val	rs1324153760	missense variant	-	NC_000008.11:g.56963962C>A	gnomAD
IMPAD1	Q9NX62	p.Asn305Ser	rs373619609	missense variant	-	NC_000008.11:g.56963959T>C	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Asn305Ile	rs373619609	missense variant	-	NC_000008.11:g.56963959T>A	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala306Val	rs777949538	missense variant	-	NC_000008.11:g.56963956G>A	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ala306Gly	COSM281920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56963956G>C	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Ile307Val	rs748501972	missense variant	-	NC_000008.11:g.56963954T>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ile307Met	rs1222269578	missense variant	-	NC_000008.11:g.56963952G>C	TOPMed
IMPAD1	Q9NX62	p.Gly312Ala	rs370198289	missense variant	-	NC_000008.11:g.56963938C>G	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly312Glu	rs370198289	missense variant	-	NC_000008.11:g.56963938C>T	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly312Arg	rs755310573	missense variant	-	NC_000008.11:g.56963939C>T	ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Thr317Ala	rs1176339832	missense variant	-	NC_000008.11:g.56963924T>C	gnomAD
IMPAD1	Q9NX62	p.Leu318Val	rs1161523443	missense variant	-	NC_000008.11:g.56963921G>C	TOPMed
IMPAD1	Q9NX62	p.Ser319Asn	rs763761420	missense variant	-	NC_000008.11:g.56963917C>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Gly320Val	COSM6113640	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56963914C>A	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Glu321Lys	rs1390174328	missense variant	-	NC_000008.11:g.56963912C>T	TOPMed
IMPAD1	Q9NX62	p.Glu322Lys	RCV000385632	missense variant	Chondrodysplasia	NC_000008.11:g.56963909C>T	ClinVar
IMPAD1	Q9NX62	p.Glu322Asp	rs1348540270	missense variant	-	NC_000008.11:g.56963907T>G	gnomAD
IMPAD1	Q9NX62	p.Glu322Lys	rs76235334	missense variant	-	NC_000008.11:g.56963909C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ser324Ter	RCV000598819	frameshift	-	NC_000008.11:g.56963900_56963901del	ClinVar
IMPAD1	Q9NX62	p.Ser324Asn	rs1278891844	missense variant	-	NC_000008.11:g.56963902C>T	gnomAD
IMPAD1	Q9NX62	p.Gly330Ser	RCV000331187	missense variant	Chondrodysplasia	NC_000008.11:g.56963885C>T	ClinVar
IMPAD1	Q9NX62	p.Gly330Val	rs773790200	missense variant	-	NC_000008.11:g.56963884C>A	ExAC
IMPAD1	Q9NX62	p.Gly330Ser	rs138502852	missense variant	-	NC_000008.11:g.56963885C>T	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Ile331Val	rs765934902	missense variant	-	NC_000008.11:g.56963882T>C	ExAC,gnomAD
IMPAD1	Q9NX62	p.Gly333Val	rs763327486	missense variant	-	NC_000008.11:g.56963875C>A	ExAC,gnomAD
IMPAD1	Q9NX62	p.Ile339Val	rs1173682845	missense variant	-	NC_000008.11:g.56963858T>C	gnomAD
IMPAD1	Q9NX62	p.Gln344Lys	rs1478039395	missense variant	-	NC_000008.11:g.56963843G>T	TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gln344Arg	rs1396407759	missense variant	-	NC_000008.11:g.56963842T>C	gnomAD
IMPAD1	Q9NX62	p.Ala345Asp	rs770253673	missense variant	-	NC_000008.11:g.56963839G>T	ExAC,gnomAD
IMPAD1	Q9NX62	p.Val347Phe	rs1481912856	missense variant	-	NC_000008.11:g.56963834C>A	TOPMed
IMPAD1	Q9NX62	p.Arg348Gly	rs1181775163	missense variant	-	NC_000008.11:g.56963831T>C	gnomAD
IMPAD1	Q9NX62	p.Pro351Leu	rs1038937444	missense variant	-	NC_000008.11:g.56963821G>A	TOPMed
IMPAD1	Q9NX62	p.Asp352His	rs560353101	missense variant	-	NC_000008.11:g.56963819C>G	1000Genomes,ExAC,gnomAD
IMPAD1	Q9NX62	p.Asp352Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56963819C>A	NCI-TCGA
IMPAD1	Q9NX62	p.Glu354Gln	rs1185736896	missense variant	-	NC_000008.11:g.56963813C>G	TOPMed
IMPAD1	Q9NX62	p.Glu354Gly	rs1200998344	missense variant	-	NC_000008.11:g.56963812T>C	gnomAD
IMPAD1	Q9NX62	p.Glu354Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56963811T>G	NCI-TCGA
IMPAD1	Q9NX62	p.Lys355Glu	rs1367924061	missense variant	-	NC_000008.11:g.56963810T>C	TOPMed
IMPAD1	Q9NX62	p.Lys355Arg	COSM1100687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.56963809T>C	NCI-TCGA Cosmic
IMPAD1	Q9NX62	p.Thr356Ala	rs201175538	missense variant	-	NC_000008.11:g.56963807T>C	ESP,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.Gly357Arg	rs1165957845	missense variant	-	NC_000008.11:g.56963804C>G	TOPMed
IMPAD1	Q9NX62	p.Gly357Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56963803C>T	NCI-TCGA
IMPAD1	Q9NX62	p.His358Arg	rs546293123	missense variant	-	NC_000008.11:g.56963800T>C	1000Genomes,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.His358Leu	rs546293123	missense variant	-	NC_000008.11:g.56963800T>A	1000Genomes,ExAC,TOPMed,gnomAD
IMPAD1	Q9NX62	p.His358Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.56963801G>T	NCI-TCGA
MKS1	Q9NXB0	p.Met1Val	RCV000674956	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58219230T>C	ClinVar
MKS1	Q9NXB0	p.Ala2Val	rs377040370	missense variant	-	NC_000017.11:g.58219226G>A	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu3Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58219224C>T	NCI-TCGA
MKS1	Q9NXB0	p.Thr4Ser	rs928775924	missense variant	-	NC_000017.11:g.58219221T>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Val5Ile	rs1164077334	missense variant	-	NC_000017.11:g.58219218C>T	gnomAD
MKS1	Q9NXB0	p.Trp6Ter	rs980185244	stop gained	-	NC_000017.11:g.58219213C>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr8Ile	rs754729482	missense variant	-	NC_000017.11:g.58219208G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr10Asn	rs1268882545	missense variant	-	NC_000017.11:g.58219202G>T	gnomAD
MKS1	Q9NXB0	p.Thr10Ala	rs1021790535	missense variant	-	NC_000017.11:g.58219203T>C	TOPMed
MKS1	Q9NXB0	p.Gly11Arg	rs762103206	missense variant	-	NC_000017.11:g.58219200C>G	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly11Glu	rs375223375	missense variant	-	NC_000017.11:g.58219199C>T	ESP,ExAC,TOPMed
MKS1	Q9NXB0	p.Gly11Arg	rs762103206	missense variant	-	NC_000017.11:g.58219200C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly11Ala	rs375223375	missense variant	-	NC_000017.11:g.58219199C>G	ESP,ExAC,TOPMed
MKS1	Q9NXB0	p.Glu12Asp	RCV000731433	missense variant	-	NC_000017.11:g.58219195C>A	ClinVar
MKS1	Q9NXB0	p.Glu12Lys	rs1183365510	missense variant	-	NC_000017.11:g.58219197C>T	TOPMed
MKS1	Q9NXB0	p.Glu12Asp	rs1386455261	missense variant	-	NC_000017.11:g.58219195C>A	TOPMed
MKS1	Q9NXB0	p.Ala13Ser	rs1290085395	missense variant	-	NC_000017.11:g.58219194C>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Ala13Thr	rs1290085395	missense variant	-	NC_000017.11:g.58219194C>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Val14Gly	rs1238624666	missense variant	-	NC_000017.11:g.58219190A>C	gnomAD
MKS1	Q9NXB0	p.Tyr15His	rs1166824059	missense variant	-	NC_000017.11:g.58219188A>G	TOPMed
MKS1	Q9NXB0	p.Arg16Cys	rs1011348762	missense variant	-	NC_000017.11:g.58219185G>A	TOPMed
MKS1	Q9NXB0	p.Asp19Ter	RCV000022412	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58219177_58219181dup	ClinVar
MKS1	Q9NXB0	p.Asp19Tyr	RCV000201752	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58219176C>A	ClinVar
MKS1	Q9NXB0	p.Asp19Tyr	rs863225205	missense variant	-	NC_000017.11:g.58219176C>A	-
MKS1	Q9NXB0	p.Asp19Tyr	rs863225205	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58219176C>A	UniProt,dbSNP
MKS1	Q9NXB0	p.Asp19Tyr	VAR_077515	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58219176C>A	UniProt
MKS1	Q9NXB0	p.Asp19Ter	RCV000672700	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58219176_58219180dup	ClinVar
MKS1	Q9NXB0	p.Asp19Ter	RCV000050038	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58219176_58219180dup	ClinVar
MKS1	Q9NXB0	p.Pro20Thr	rs1281315294	missense variant	-	NC_000017.11:g.58219173G>T	gnomAD
MKS1	Q9NXB0	p.Pro20Leu	rs1438292552	missense variant	-	NC_000017.11:g.58219172G>A	gnomAD
MKS1	Q9NXB0	p.Val21Ala	rs1376789752	missense variant	-	NC_000017.11:g.58219169A>G	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg22Cys	rs1031187314	missense variant	-	NC_000017.11:g.58219167G>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg22Ser	RCV000538877	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58219167G>T	ClinVar
MKS1	Q9NXB0	p.Arg22Ser	rs1031187314	missense variant	-	NC_000017.11:g.58219167G>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Leu24Ser	rs1400313791	missense variant	-	NC_000017.11:g.58219160A>G	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg25His	rs999753696	missense variant	-	NC_000017.11:g.58219157C>T	TOPMed
MKS1	Q9NXB0	p.Leu26Phe	rs901426602	missense variant	-	NC_000017.11:g.58219155G>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg27Leu	rs1457838607	missense variant	-	NC_000017.11:g.58219151C>A	gnomAD
MKS1	Q9NXB0	p.Arg27Ter	rs1161451203	stop gained	-	NC_000017.11:g.58219152G>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Val28Gly	rs201957874	missense variant	-	NC_000017.11:g.58218727A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Val28Ala	rs201957874	missense variant	-	NC_000017.11:g.58218727A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.His29Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58218723G>C	NCI-TCGA
MKS1	Q9NXB0	p.Gln31Glu	rs1214897554	missense variant	-	NC_000017.11:g.58218719G>C	gnomAD
MKS1	Q9NXB0	p.Gln31Arg	rs767646864	missense variant	-	NC_000017.11:g.58218718T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ile33Asn	rs1212528189	missense variant	-	NC_000017.11:g.58218712A>T	gnomAD
MKS1	Q9NXB0	p.Thr34Ile	rs759465861	missense variant	-	NC_000017.11:g.58218709G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr34ValAlaGlySerAlaPro	NCI-TCGA novel	insertion	-	NC_000017.11:g.58218708_58218709insGGGGCACTCCCAGCCACG	NCI-TCGA
MKS1	Q9NXB0	p.Asn37Ser	RCV000671334	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58218700T>C	ClinVar
MKS1	Q9NXB0	p.Asn37Ser	rs587779734	missense variant	-	NC_000017.11:g.58218700T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Asn37Ile	rs587779734	missense variant	-	NC_000017.11:g.58218700T>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Asn37Ser	RCV000114211	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58218700T>C	ClinVar
MKS1	Q9NXB0	p.Asn37Lys	rs1409024170	missense variant	-	NC_000017.11:g.58218699G>C	TOPMed
MKS1	Q9NXB0	p.Leu39Ile	COSM981769	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58218695G>T	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Leu39Phe	rs11653070	missense variant	-	NC_000017.11:g.58218695G>A	UniProt,dbSNP
MKS1	Q9NXB0	p.Leu39Phe	VAR_060161	missense variant	-	NC_000017.11:g.58218695G>A	UniProt
MKS1	Q9NXB0	p.Leu39Phe	rs11653070	missense variant	-	NC_000017.11:g.58218695G>A	-
MKS1	Q9NXB0	p.His40Tyr	rs199832333	missense variant	-	NC_000017.11:g.58218692G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.His40Tyr	RCV000765374	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58218692G>A	ClinVar
MKS1	Q9NXB0	p.His40Tyr	RCV000724912	missense variant	-	NC_000017.11:g.58218692G>A	ClinVar
MKS1	Q9NXB0	p.Tyr41Phe	rs1360195350	missense variant	-	NC_000017.11:g.58218688T>A	gnomAD
MKS1	Q9NXB0	p.Pro43Arg	RCV000554973	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58218682G>C	ClinVar
MKS1	Q9NXB0	p.Pro43Arg	rs1311306088	missense variant	-	NC_000017.11:g.58218682G>C	TOPMed,gnomAD
MKS1	Q9NXB0	p.Pro43Leu	rs1311306088	missense variant	-	NC_000017.11:g.58218682G>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Ala45Gly	rs1382730286	missense variant	-	NC_000017.11:g.58218676G>C	TOPMed
MKS1	Q9NXB0	p.Glu46Lys	rs183617764	missense variant	-	NC_000017.11:g.58218674C>T	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Lys49Arg	rs748133097	missense variant	-	NC_000017.11:g.58218664T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Asp50Asn	rs776363123	missense variant	-	NC_000017.11:g.58218662C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Leu51Phe	rs368169919	missense variant	-	NC_000017.11:g.58218659G>A	ESP,ExAC,gnomAD
MKS1	Q9NXB0	p.Ile52Thr	rs746450191	missense variant	-	NC_000017.11:g.58218655A>G	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Leu54Ser	COSM981765	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58218649A>G	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Ala55Val	rs779521346	missense variant	-	NC_000017.11:g.58218646G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Ala55Thr	RCV000731630	missense variant	-	NC_000017.11:g.58218647C>T	ClinVar
MKS1	Q9NXB0	p.Arg58Met	COSM981763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58218637C>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Pro59Leu	rs1183027576	missense variant	-	NC_000017.11:g.58218634G>A	gnomAD
MKS1	Q9NXB0	p.Gln60Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.58218632G>A	NCI-TCGA
MKS1	Q9NXB0	p.Gln60Lys	COSM4854483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58218632G>T	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Pro61Arg	rs1044692091	missense variant	-	NC_000017.11:g.58218628G>C	TOPMed
MKS1	Q9NXB0	p.Thr62Ala	rs758090787	missense variant	-	NC_000017.11:g.58218626T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr62Ter	RCV000050032	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58218624_58218630del	ClinVar
MKS1	Q9NXB0	p.Thr62Ter	RCV000674337	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58218624_58218630del	ClinVar
MKS1	Q9NXB0	p.Ser64Asn	rs755502660	missense variant	-	NC_000017.11:g.58216736C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly65Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58216733C>T	NCI-TCGA
MKS1	Q9NXB0	p.Arg67Cys	rs200340896	missense variant	-	NC_000017.11:g.58216728G>A	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg67Cys	RCV000533125	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216728G>A	ClinVar
MKS1	Q9NXB0	p.Arg67His	rs780293222	missense variant	-	NC_000017.11:g.58216727C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg67Cys	RCV000596970	missense variant	-	NC_000017.11:g.58216728G>A	ClinVar
MKS1	Q9NXB0	p.Glu70Lys	rs750702019	missense variant	-	NC_000017.11:g.58216719C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Asp71Glu	RCV000399365	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58216714G>C	ClinVar
MKS1	Q9NXB0	p.Asp71Glu	RCV000351197	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58216714G>C	ClinVar
MKS1	Q9NXB0	p.Asp71Glu	rs142813109	missense variant	-	NC_000017.11:g.58216714G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu72Lys	rs753620277	missense variant	-	NC_000017.11:g.58216713C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Glu72Lys	RCV000668894	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58216713C>T	ClinVar
MKS1	Q9NXB0	p.Glu72Lys	RCV000381496	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58216713C>T	ClinVar
MKS1	Q9NXB0	p.Glu72Lys	RCV000296253	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58216713C>T	ClinVar
MKS1	Q9NXB0	p.Glu75Asp	rs775351056	missense variant	-	NC_000017.11:g.58216702C>G	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu75Lys	rs763949111	missense variant	-	NC_000017.11:g.58216704C>T	ExAC
MKS1	Q9NXB0	p.Glu75Asp	rs775351056	missense variant	-	NC_000017.11:g.58216702C>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ile76Thr	RCV000730378	missense variant	-	NC_000017.11:g.58216700A>G	ClinVar
MKS1	Q9NXB0	p.Ile76Thr	rs1412560835	missense variant	-	NC_000017.11:g.58216700A>G	gnomAD
MKS1	Q9NXB0	p.Val77Met	rs1198645467	missense variant	-	NC_000017.11:g.58216698C>T	gnomAD
MKS1	Q9NXB0	p.Ile78Ser	rs786204222	missense variant	-	NC_000017.11:g.58216694A>C	gnomAD
MKS1	Q9NXB0	p.Ile78Thr	rs786204222	missense variant	-	NC_000017.11:g.58216694A>G	gnomAD
MKS1	Q9NXB0	p.Ile78Ser	RCV000665745	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58216694A>C	ClinVar
MKS1	Q9NXB0	p.Gly79Arg	rs759008278	missense variant	-	NC_000017.11:g.58216692C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly79Val	rs774076532	missense variant	-	NC_000017.11:g.58216691C>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Trp80Cys	rs1114167302	missense variant	-	NC_000017.11:g.58216687C>A	-
MKS1	Q9NXB0	p.Trp80Cys	rs1114167302	missense variant	-	NC_000017.11:g.58216687C>A	UniProt,dbSNP
MKS1	Q9NXB0	p.Trp80Cys	VAR_077516	missense variant	-	NC_000017.11:g.58216687C>A	UniProt
MKS1	Q9NXB0	p.Trp80Cys	RCV000491898	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216687C>A	ClinVar
MKS1	Q9NXB0	p.Glu82Gly	rs1267743604	missense variant	-	NC_000017.11:g.58216682T>C	gnomAD
MKS1	Q9NXB0	p.Gln87Glu	rs1269271727	missense variant	-	NC_000017.11:g.58216668G>C	gnomAD
MKS1	Q9NXB0	p.Phe88Cys	rs886053170	missense variant	-	NC_000017.11:g.58216242A>C	TOPMed,gnomAD
MKS1	Q9NXB0	p.Phe88Tyr	rs886053170	missense variant	-	NC_000017.11:g.58216242A>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Phe88Ser	rs886053170	missense variant	-	NC_000017.11:g.58216242A>G	TOPMed,gnomAD
MKS1	Q9NXB0	p.Phe88Ser	RCV000290521	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58216242A>G	ClinVar
MKS1	Q9NXB0	p.Phe88Ser	RCV000345617	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58216242A>G	ClinVar
MKS1	Q9NXB0	p.Val90Ile	rs1235520151	missense variant	-	NC_000017.11:g.58216237C>T	TOPMed
MKS1	Q9NXB0	p.Val90Ala	rs367668056	missense variant	-	NC_000017.11:g.58216236A>G	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Asp91Ala	rs1404195978	missense variant	-	NC_000017.11:g.58216233T>G	gnomAD
MKS1	Q9NXB0	p.Asp91Ala	RCV000514746	missense variant	-	NC_000017.11:g.58216233T>G	ClinVar
MKS1	Q9NXB0	p.Gln94Lys	rs76838735	missense variant	-	NC_000017.11:g.58216225G>T	TOPMed
MKS1	Q9NXB0	p.Gln94Glu	rs76838735	missense variant	-	NC_000017.11:g.58216225G>C	TOPMed
MKS1	Q9NXB0	p.Gln94His	rs772742739	missense variant	-	NC_000017.11:g.58216223T>G	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ala98Val	rs1440750700	missense variant	-	NC_000017.11:g.58216212G>A	TOPMed
MKS1	Q9NXB0	p.Cys99Gly	rs1170310363	missense variant	-	NC_000017.11:g.58216210A>C	gnomAD
MKS1	Q9NXB0	p.Ser101Thr	rs1451544203	missense variant	-	NC_000017.11:g.58216203C>G	gnomAD
MKS1	Q9NXB0	p.Pro102Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58216200G>A	NCI-TCGA
MKS1	Q9NXB0	p.Pro102Ser	COSM3520005	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58216201G>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Leu103Ser	rs201574278	missense variant	-	NC_000017.11:g.58216197A>G	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Tyr105Ser	RCV000636952	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216191T>G	ClinVar
MKS1	Q9NXB0	p.Tyr105His	rs778921113	missense variant	-	NC_000017.11:g.58216192A>G	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Tyr105Ser	rs1440792737	missense variant	-	NC_000017.11:g.58216191T>G	TOPMed,gnomAD
MKS1	Q9NXB0	p.Gln106Arg	rs1258822362	missense variant	-	NC_000017.11:g.58216188T>C	gnomAD
MKS1	Q9NXB0	p.Tyr107Ter	rs1168199157	stop gained	-	NC_000017.11:g.58216184G>C	TOPMed
MKS1	Q9NXB0	p.Arg108Cys	rs201476674	missense variant	-	NC_000017.11:g.58216183G>A	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg108His	rs200331553	missense variant	-	NC_000017.11:g.58216182C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg108His	RCV000352213	missense variant	-	NC_000017.11:g.58216182C>T	ClinVar
MKS1	Q9NXB0	p.Glu110Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58216175C>A	NCI-TCGA
MKS1	Q9NXB0	p.Ile111Leu	RCV000382581	missense variant	-	NC_000017.11:g.58216174T>G	ClinVar
MKS1	Q9NXB0	p.Ile111Leu	rs886044605	missense variant	-	NC_000017.11:g.58216174T>G	gnomAD
MKS1	Q9NXB0	p.Ile111Val	rs886044605	missense variant	-	NC_000017.11:g.58216174T>C	gnomAD
MKS1	Q9NXB0	p.Lys113Asn	rs1342346516	missense variant	-	NC_000017.11:g.58216166C>G	gnomAD
MKS1	Q9NXB0	p.Glu115Asp	rs777934536	missense variant	-	NC_000017.11:g.58216160C>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Glu115Lys	COSM3520003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58216162C>T	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Ser117Leu	rs755927059	missense variant	-	NC_000017.11:g.58216155G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly118Arg	rs1356916781	missense variant	-	NC_000017.11:g.58216153C>G	TOPMed
MKS1	Q9NXB0	p.Lys120Gln	rs1312861325	missense variant	-	NC_000017.11:g.58216147T>G	gnomAD
MKS1	Q9NXB0	p.Lys120Asn	rs751455442	missense variant	-	NC_000017.11:g.58216145C>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Lys120Arg	rs767269565	missense variant	-	NC_000017.11:g.58216146T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Asn122Thr	rs765809969	missense variant	-	NC_000017.11:g.58216140T>G	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg123Ter	RCV000411143	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58216139dup	ClinVar
MKS1	Q9NXB0	p.Arg123Gln	rs202112856	missense variant	-	NC_000017.11:g.58216137C>T	UniProt,dbSNP
MKS1	Q9NXB0	p.Arg123Gln	VAR_062287	missense variant	-	NC_000017.11:g.58216137C>T	UniProt
MKS1	Q9NXB0	p.Arg123Gln	rs202112856	missense variant	-	NC_000017.11:g.58216137C>T	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg123Ter	RCV000412146	frameshift	Joubert syndrome 28 (JBTS28)	NC_000017.11:g.58216139dup	ClinVar
MKS1	Q9NXB0	p.Arg123Ter	RCV000409586	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58216139dup	ClinVar
MKS1	Q9NXB0	p.Arg123Gln	RCV000695608	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216137C>T	ClinVar
MKS1	Q9NXB0	p.Arg123Gln	RCV000224664	missense variant	-	NC_000017.11:g.58216137C>T	ClinVar
MKS1	Q9NXB0	p.Arg123Ter	rs762482919	stop gained	-	NC_000017.11:g.58216138G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg123Gln	RCV000318559	missense variant	-	NC_000017.11:g.58216137C>T	ClinVar
MKS1	Q9NXB0	p.Arg123Gln	RCV000765373	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58216137C>T	ClinVar
MKS1	Q9NXB0	p.Arg124Ter	RCV000778505	nonsense	MKS1-Related Disorders	NC_000017.11:g.58216135G>A	ClinVar
MKS1	Q9NXB0	p.Arg124Gln	rs765026950	missense variant	-	NC_000017.11:g.58216134C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg124Ter	rs990955357	stop gained	-	NC_000017.11:g.58216135G>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg124Gln	RCV000636950	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58216134C>T	ClinVar
MKS1	Q9NXB0	p.Phe126Ser	rs1471955218	missense variant	-	NC_000017.11:g.58216128A>G	gnomAD
MKS1	Q9NXB0	p.Thr127Ala	rs1466186233	missense variant	-	NC_000017.11:g.58216126T>C	gnomAD
MKS1	Q9NXB0	p.Tyr128Cys	rs776068083	missense variant	-	NC_000017.11:g.58216122T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Tyr128Ter	RCV000201583	frameshift	Joubert syndrome (JBTS)	NC_000017.11:g.58216125del	ClinVar
MKS1	Q9NXB0	p.Thr129Ala	rs374506610	missense variant	-	NC_000017.11:g.58216120T>C	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Asp130Ter	RCV000050033	nonsense	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58216112_58216113AG[1]	ClinVar
MKS1	Q9NXB0	p.Tyr134Cys	rs747461404	missense variant	-	NC_000017.11:g.58216104T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Asn136Asp	rs1207669104	missense variant	-	NC_000017.11:g.58216099T>C	gnomAD
MKS1	Q9NXB0	p.Glu138Asp	rs749341221	missense variant	-	NC_000017.11:g.58216091C>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Cys141Tyr	rs1479217129	missense variant	-	NC_000017.11:g.58214834C>T	gnomAD
MKS1	Q9NXB0	p.Cys141Gly	rs200332126	missense variant	-	NC_000017.11:g.58214835A>C	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Gln142Ter	rs386834049	stop gained	-	NC_000017.11:g.58214832G>A	-
MKS1	Q9NXB0	p.Gln142Ter	RCV000050035	nonsense	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58214832G>A	ClinVar
MKS1	Q9NXB0	p.Arg143Ile	rs758424317	missense variant	-	NC_000017.11:g.58214828C>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg143Gly	rs185130897	missense variant	-	NC_000017.11:g.58214829T>C	1000Genomes
MKS1	Q9NXB0	p.Arg143Ser	rs1187507531	missense variant	-	NC_000017.11:g.58214827T>G	gnomAD
MKS1	Q9NXB0	p.Thr145Asn	rs1463305225	missense variant	-	NC_000017.11:g.58214822G>T	gnomAD
MKS1	Q9NXB0	p.Ala147Thr	rs1249328656	missense variant	-	NC_000017.11:g.58214817C>T	gnomAD
MKS1	Q9NXB0	p.Ala147Val	rs1376838481	missense variant	-	NC_000017.11:g.58214816G>A	TOPMed
MKS1	Q9NXB0	p.Ser149Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58214810C>T	NCI-TCGA
MKS1	Q9NXB0	p.Glu150Lys	rs1441703688	missense variant	-	NC_000017.11:g.58214808C>T	gnomAD
MKS1	Q9NXB0	p.Val151Ala	rs778584579	missense variant	-	NC_000017.11:g.58214804A>G	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Pro152His	rs1220688429	missense variant	-	NC_000017.11:g.58214801G>T	gnomAD
MKS1	Q9NXB0	p.Ser153Ter	rs903778224	stop gained	-	NC_000017.11:g.58214798G>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Phe154Ser	rs753579811	missense variant	-	NC_000017.11:g.58214795A>G	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Phe154Leu	rs576624384	missense variant	-	NC_000017.11:g.58214796A>G	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Val156Asp	rs1431579746	missense variant	-	NC_000017.11:g.58214789A>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu157Lys	rs200970148	missense variant	-	NC_000017.11:g.58214787C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu157Gly	rs766648988	missense variant	-	NC_000017.11:g.58214786T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu157Lys	RCV000397736	missense variant	-	NC_000017.11:g.58214787C>T	ClinVar
MKS1	Q9NXB0	p.Glu157Lys	RCV000814394	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58214787C>T	ClinVar
MKS1	Q9NXB0	p.Arg158Ter	rs386834050	stop gained	-	NC_000017.11:g.58214784G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg158Ter	RCV000760436	nonsense	-	NC_000017.11:g.58214784G>A	ClinVar
MKS1	Q9NXB0	p.Arg158Gln	rs373471917	missense variant	-	NC_000017.11:g.58214783C>T	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg158Leu	rs373471917	missense variant	-	NC_000017.11:g.58214783C>A	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Met159Thr	rs370013310	missense variant	-	NC_000017.11:g.58214780A>G	ESP,ExAC,gnomAD
MKS1	Q9NXB0	p.Ala160Thr	rs761830955	missense variant	-	NC_000017.11:g.58214778C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Asn161Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58214773A>C	NCI-TCGA
MKS1	Q9NXB0	p.Asn161Asp	rs776666925	missense variant	-	NC_000017.11:g.58214775T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg163Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58214768C>A	NCI-TCGA
MKS1	Q9NXB0	p.Arg164His	rs200149256	missense variant	-	NC_000017.11:g.58214765C>T	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg164Ser	COSM1384673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214766G>T	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Arg164Cys	rs370568445	missense variant	-	NC_000017.11:g.58214766G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg164His	RCV000384944	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58214765C>T	ClinVar
MKS1	Q9NXB0	p.Arg164His	RCV000730592	missense variant	-	NC_000017.11:g.58214765C>T	ClinVar
MKS1	Q9NXB0	p.Arg164His	RCV000321171	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58214765C>T	ClinVar
MKS1	Q9NXB0	p.Arg165Cys	RCV000675062	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58214763G>A	ClinVar
MKS1	Q9NXB0	p.Arg165Cys	rs779953982	missense variant	-	NC_000017.11:g.58214763G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg165His	rs771709346	missense variant	-	NC_000017.11:g.58214762C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg166Trp	rs201845154	missense variant	-	NC_000017.11:g.58214760G>A	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg166Trp	rs201845154	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58214760G>A	UniProt,dbSNP
MKS1	Q9NXB0	p.Arg166Trp	VAR_062288	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58214760G>A	UniProt
MKS1	Q9NXB0	p.Arg166Gln	rs1050543850	missense variant	-	NC_000017.11:g.58214759C>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg166Trp	RCV000283742	missense variant	-	NC_000017.11:g.58214760G>A	ClinVar
MKS1	Q9NXB0	p.Gln167Lys	rs1215189491	missense variant	-	NC_000017.11:g.58214757G>T	gnomAD
MKS1	Q9NXB0	p.Arg170Gln	rs369388608	missense variant	-	NC_000017.11:g.58214747C>T	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg170Ter	RCV000224251	nonsense	-	NC_000017.11:g.58214748G>A	ClinVar
MKS1	Q9NXB0	p.Arg170Ter	RCV000668874	nonsense	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58214748G>A	ClinVar
MKS1	Q9NXB0	p.Arg170Gln	RCV000283022	missense variant	-	NC_000017.11:g.58214747C>T	ClinVar
MKS1	Q9NXB0	p.Arg170Ter	rs756853299	stop gained	-	NC_000017.11:g.58214748G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly175Val	rs527350238	missense variant	-	NC_000017.11:g.58214379C>A	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Gly175Ser	rs754601373	missense variant	-	NC_000017.11:g.58214380C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg180Leu	rs145764409	missense variant	-	NC_000017.11:g.58214364C>A	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg180His	rs145764409	missense variant	-	NC_000017.11:g.58214364C>T	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg180Cys	rs559966703	missense variant	-	NC_000017.11:g.58214365G>A	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg180Cys	RCV000732564	missense variant	-	NC_000017.11:g.58214365G>A	ClinVar
MKS1	Q9NXB0	p.Arg180Cys	RCV000502261	missense variant	-	NC_000017.11:g.58214365G>A	ClinVar
MKS1	Q9NXB0	p.Ile181Val	RCV000591184	missense variant	-	NC_000017.11:g.58214362T>C	ClinVar
MKS1	Q9NXB0	p.Ile181Val	rs764242484	missense variant	-	NC_000017.11:g.58214362T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Ile181Leu	rs764242484	missense variant	-	NC_000017.11:g.58214362T>G	ExAC,gnomAD
MKS1	Q9NXB0	p.Val182Ile	rs200185068	missense variant	-	NC_000017.11:g.58214359C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Val182Ile	RCV000728102	missense variant	-	NC_000017.11:g.58214359C>T	ClinVar
MKS1	Q9NXB0	p.Val182Ile	RCV000765372	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58214359C>T	ClinVar
MKS1	Q9NXB0	p.Val182Ile	RCV000226628	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58214359C>T	ClinVar
MKS1	Q9NXB0	p.Thr183Ser	rs775805558	missense variant	-	NC_000017.11:g.58214355G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr183Ile	rs775805558	missense variant	-	NC_000017.11:g.58214355G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu185Lys	rs373755286	missense variant	-	NC_000017.11:g.58214350C>T	ESP,ExAC,gnomAD
MKS1	Q9NXB0	p.Glu189Gly	rs1423275977	missense variant	-	NC_000017.11:g.58214337T>C	gnomAD
MKS1	Q9NXB0	p.Glu189Ter	COSM262029	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58214338C>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Phe190Ile	rs1195695177	missense variant	-	NC_000017.11:g.58214335A>T	gnomAD
MKS1	Q9NXB0	p.Val191Ile	rs1469110340	missense variant	-	NC_000017.11:g.58214332C>T	gnomAD
MKS1	Q9NXB0	p.Val191Asp	rs1474687527	missense variant	-	NC_000017.11:g.58214331A>T	TOPMed
MKS1	Q9NXB0	p.Arg192Ser	COSM3820060	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214327C>G	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Asn193Lys	RCV000592910	missense variant	-	NC_000017.11:g.58214324G>C	ClinVar
MKS1	Q9NXB0	p.Asn193Lys	rs1206983556	missense variant	-	NC_000017.11:g.58214324G>C	gnomAD
MKS1	Q9NXB0	p.Asn193Lys	rs1206983556	missense variant	-	NC_000017.11:g.58214324G>T	gnomAD
MKS1	Q9NXB0	p.Asn194Asp	rs759802849	missense variant	-	NC_000017.11:g.58214323T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Asn194Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58214321G>T	NCI-TCGA
MKS1	Q9NXB0	p.Asn194Ser	COSM4068102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214322T>C	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Val196Leu	COSM6147122	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214317C>G	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Val196Ile	rs140677541	missense variant	-	NC_000017.11:g.58214317C>T	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Ile197Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58214313A>G	NCI-TCGA
MKS1	Q9NXB0	p.Thr199Ser	rs1441531378	missense variant	-	NC_000017.11:g.58214307G>C	gnomAD
MKS1	Q9NXB0	p.Pro200LeuPheSerTerUnkUnk	COSM5172495	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58214304G>-	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Met204Val	rs1303915727	missense variant	-	NC_000017.11:g.58214293T>C	gnomAD
MKS1	Q9NXB0	p.His205Arg	rs1186426432	missense variant	-	NC_000017.11:g.58214289T>C	TOPMed
MKS1	Q9NXB0	p.Ile206Met	rs772982926	missense variant	-	NC_000017.11:g.58214285G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ala208Thr	COSM4068100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214281C>T	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Gly211Glu	rs1022156989	missense variant	-	NC_000017.11:g.58214271C>T	TOPMed
MKS1	Q9NXB0	p.Pro212Thr	rs747659750	missense variant	-	NC_000017.11:g.58214269G>T	ExAC,TOPMed
MKS1	Q9NXB0	p.Pro212Leu	COSM3519999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58214268G>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Tyr213Asp	rs780721543	missense variant	-	NC_000017.11:g.58214266A>C	ExAC
MKS1	Q9NXB0	p.Tyr213Cys	rs754689401	missense variant	-	NC_000017.11:g.58214265T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Lys214Glu	rs1302221349	missense variant	-	NC_000017.11:g.58214263T>C	gnomAD
MKS1	Q9NXB0	p.Tyr218Cys	rs201758855	missense variant	-	NC_000017.11:g.58213861T>C	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Tyr218Ser	rs201758855	missense variant	-	NC_000017.11:g.58213861T>G	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.His223Tyr	rs776172667	missense variant	-	NC_000017.11:g.58213847G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Leu225Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58213841G>T	NCI-TCGA
MKS1	Q9NXB0	p.Val230Leu	RCV000728705	missense variant	-	NC_000017.11:g.58213826C>A	ClinVar
MKS1	Q9NXB0	p.Ser232Thr	rs1422512368	missense variant	-	NC_000017.11:g.58213819C>G	gnomAD
MKS1	Q9NXB0	p.Gly234Ala	rs1413306907	missense variant	-	NC_000017.11:g.58213813C>G	TOPMed
MKS1	Q9NXB0	p.Gly234Cys	rs746666115	missense variant	-	NC_000017.11:g.58213814C>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Gly234Ser	rs746666115	missense variant	-	NC_000017.11:g.58213814C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Val235Ala	rs557691735	missense variant	-	NC_000017.11:g.58213810A>G	1000Genomes,gnomAD
MKS1	Q9NXB0	p.Ile236Met	COSM3672520	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58213806G>C	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Val238Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58213802C>T	NCI-TCGA
MKS1	Q9NXB0	p.Val238Gly	rs376785849	missense variant	-	NC_000017.11:g.58213801A>C	ESP,ExAC,gnomAD
MKS1	Q9NXB0	p.Lys239Asn	rs1378969681	missense variant	-	NC_000017.11:g.58213797C>G	gnomAD
MKS1	Q9NXB0	p.Pro240His	rs771310059	missense variant	-	NC_000017.11:g.58213795G>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Phe242Leu	rs1293228274	missense variant	-	NC_000017.11:g.58213788G>T	TOPMed
MKS1	Q9NXB0	p.Thr243Met	rs749668169	missense variant	-	NC_000017.11:g.58213786G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr243Ser	rs1197155331	missense variant	-	NC_000017.11:g.58213787T>A	gnomAD
MKS1	Q9NXB0	p.Lys246Arg	rs1357229502	missense variant	-	NC_000017.11:g.58213777T>C	gnomAD
MKS1	Q9NXB0	p.Arg250Gly	rs1472853273	missense variant	-	NC_000017.11:g.58213766T>C	gnomAD
MKS1	Q9NXB0	p.Glu252Lys	rs1326729220	missense variant	-	NC_000017.11:g.58213086C>T	gnomAD
MKS1	Q9NXB0	p.Thr253Met	rs778058178	missense variant	-	NC_000017.11:g.58213082G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr253Ala	rs745531071	missense variant	-	NC_000017.11:g.58213083T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly255Arg	rs201237547	missense variant	-	NC_000017.11:g.58213077C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly255Trp	rs201237547	missense variant	-	NC_000017.11:g.58213077C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly255Trp	RCV000299237	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58213077C>A	ClinVar
MKS1	Q9NXB0	p.Gly255Arg	RCV000657869	missense variant	-	NC_000017.11:g.58213077C>G	ClinVar
MKS1	Q9NXB0	p.Gly255Arg	RCV000695711	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58213077C>G	ClinVar
MKS1	Q9NXB0	p.Gly255Arg	rs201237547	missense variant	-	NC_000017.11:g.58213077C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly255Trp	RCV000354135	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58213077C>A	ClinVar
MKS1	Q9NXB0	p.Glu256Lys	rs780276924	missense variant	-	NC_000017.11:g.58213074C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Glu256Ter	RCV000201675	frameshift	Joubert syndrome (JBTS)	NC_000017.11:g.58213072_58213073insG	ClinVar
MKS1	Q9NXB0	p.Lys257Arg	rs1253067181	missense variant	-	NC_000017.11:g.58213070T>C	gnomAD
MKS1	Q9NXB0	p.Gln258Lys	rs1463443114	missense variant	-	NC_000017.11:g.58213068G>T	gnomAD
MKS1	Q9NXB0	p.Gln258Arg	rs1286284943	missense variant	-	NC_000017.11:g.58213067T>C	gnomAD
MKS1	Q9NXB0	p.Leu260Pro	rs1182924920	missense variant	-	NC_000017.11:g.58213061A>G	TOPMed
MKS1	Q9NXB0	p.Trp261Ter	rs1285966721	stop gained	-	NC_000017.11:g.58213057C>T	gnomAD
MKS1	Q9NXB0	p.Trp261Arg	rs1224092160	missense variant	-	NC_000017.11:g.58213059A>G	gnomAD
MKS1	Q9NXB0	p.Thr264Met	rs561482424	missense variant	-	NC_000017.11:g.58213049G>A	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Asp266Asn	rs764943455	missense variant	-	NC_000017.11:g.58213044C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Asn267Asp	rs1355030646	missense variant	-	NC_000017.11:g.58213041T>C	gnomAD
MKS1	Q9NXB0	p.Asn267Ser	rs757032985	missense variant	-	NC_000017.11:g.58213040T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ser269Phe	rs935450030	missense variant	-	NC_000017.11:g.58213034G>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Pro270His	rs368751106	missense variant	-	NC_000017.11:g.58213031G>T	ESP,TOPMed,gnomAD
MKS1	Q9NXB0	p.Pro270Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58213031G>A	NCI-TCGA
MKS1	Q9NXB0	p.His271Gln	rs201961765	missense variant	-	NC_000017.11:g.58213027G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.His271Asn	rs201771125	missense variant	-	NC_000017.11:g.58213029G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.His271Tyr	rs201771125	missense variant	-	NC_000017.11:g.58213029G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.His271Asp	rs201771125	missense variant	-	NC_000017.11:g.58213029G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.His271Asn	RCV000725357	missense variant	-	NC_000017.11:g.58213029G>T	ClinVar
MKS1	Q9NXB0	p.His271Asn	RCV000203095	missense variant	-	NC_000017.11:g.58213029G>T	ClinVar
MKS1	Q9NXB0	p.Ala272Thr	RCV000264989	missense variant	-	NC_000017.11:g.58213026C>T	ClinVar
MKS1	Q9NXB0	p.Ala272Thr	rs886044205	missense variant	-	NC_000017.11:g.58213026C>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Pro274Leu	rs770088105	missense variant	-	NC_000017.11:g.58213019G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu275Lys	rs777103638	missense variant	-	NC_000017.11:g.58213017C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Glu277Ter	rs1555599412	stop gained	-	NC_000017.11:g.58213011C>A	-
MKS1	Q9NXB0	p.Glu277Ter	RCV000701980	nonsense	Joubert syndrome (JBTS)	NC_000017.11:g.58213011C>A	ClinVar
MKS1	Q9NXB0	p.Glu277Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58213011C>T	NCI-TCGA
MKS1	Q9NXB0	p.Glu278Lys	rs911132717	missense variant	-	NC_000017.11:g.58213008C>T	TOPMed
MKS1	Q9NXB0	p.Arg279Trp	rs189255737	missense variant	-	NC_000017.11:g.58213005G>A	1000Genomes,ExAC,TOPMed
MKS1	Q9NXB0	p.Arg279Gln	rs747504986	missense variant	-	NC_000017.11:g.58213004C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Glu280Asp	rs1406421081	missense variant	-	NC_000017.11:g.58213000T>G	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg281Pro	rs794727927	missense variant	-	NC_000017.11:g.58212998C>G	-
MKS1	Q9NXB0	p.Arg281Trp	rs780007842	missense variant	-	NC_000017.11:g.58212999G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg281Pro	RCV000180343	missense variant	-	NC_000017.11:g.58212998C>G	ClinVar
MKS1	Q9NXB0	p.Arg281Gln	COSM1384672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58212998C>T	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Arg282Gln	rs184444815	missense variant	-	NC_000017.11:g.58212995C>T	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Arg282Pro	COSM6081354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58212995C>G	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Arg282Ter	rs797045706	stop gained	-	NC_000017.11:g.58212996G>A	TOPMed
MKS1	Q9NXB0	p.Arg282Ter	RCV000672938	nonsense	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58212996G>A	ClinVar
MKS1	Q9NXB0	p.Lys285Gln	rs779149583	missense variant	-	NC_000017.11:g.58212987T>G	ExAC,gnomAD
MKS1	Q9NXB0	p.Lys285Arg	rs1350256761	missense variant	-	NC_000017.11:g.58212986T>C	TOPMed,gnomAD
MKS1	Q9NXB0	p.Asp286Gly	RCV000664898	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58212983T>C	ClinVar
MKS1	Q9NXB0	p.Asp286Gly	RCV000690393	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58212983T>C	ClinVar
MKS1	Q9NXB0	p.Asp286Gly	RCV000514949	missense variant	-	NC_000017.11:g.58212983T>C	ClinVar
MKS1	Q9NXB0	p.Asp286Gly	rs151023718	missense variant	-	NC_000017.11:g.58212983T>C	UniProt,dbSNP
MKS1	Q9NXB0	p.Asp286Gly	VAR_062289	missense variant	-	NC_000017.11:g.58212983T>C	UniProt
MKS1	Q9NXB0	p.Asp286Gly	rs151023718	missense variant	-	NC_000017.11:g.58212983T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Leu287Phe	rs755916212	missense variant	-	NC_000017.11:g.58212434G>A	-
MKS1	Q9NXB0	p.Arg290Gln	rs755840522	missense variant	-	NC_000017.11:g.58212424C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg290Trp	rs777558323	missense variant	-	NC_000017.11:g.58212425G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg290Trp	RCV000595372	missense variant	-	NC_000017.11:g.58212425G>A	ClinVar
MKS1	Q9NXB0	p.Lys292Glu	rs201845569	missense variant	-	NC_000017.11:g.58212419T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Lys292Arg	rs1170460125	missense variant	-	NC_000017.11:g.58212418T>C	gnomAD
MKS1	Q9NXB0	p.Lys292Glu	RCV000725913	missense variant	-	NC_000017.11:g.58212419T>C	ClinVar
MKS1	Q9NXB0	p.Leu295Phe	COSM3820058	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58212410G>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Ser297Gly	rs1450226855	missense variant	-	NC_000017.11:g.58212404T>C	TOPMed
MKS1	Q9NXB0	p.Leu298Phe	rs78774579	missense variant	-	NC_000017.11:g.58212401G>A	ESP,gnomAD
MKS1	Q9NXB0	p.Val299Ile	rs751146857	missense variant	-	NC_000017.11:g.58212398C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Val299Ala	rs765793774	missense variant	-	NC_000017.11:g.58212397A>G	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr301Ser	RCV000501116	missense variant	-	NC_000017.11:g.58212391G>C	ClinVar
MKS1	Q9NXB0	p.Thr301Ser	rs1555599203	missense variant	-	NC_000017.11:g.58212391G>C	-
MKS1	Q9NXB0	p.Asp302Asn	RCV000705080	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58212389C>T	ClinVar
MKS1	Q9NXB0	p.Asp302Asn	rs750025608	missense variant	-	NC_000017.11:g.58212389C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Asp302Asn	RCV000658227	missense variant	-	NC_000017.11:g.58212389C>T	ClinVar
MKS1	Q9NXB0	p.Glu304Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58212383C>G	NCI-TCGA
MKS1	Q9NXB0	p.Met305Ile	rs761070122	missense variant	-	NC_000017.11:g.58212378C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr306Ile	RCV000731838	missense variant	-	NC_000017.11:g.58211021G>A	ClinVar
MKS1	Q9NXB0	p.Thr306Ala	rs761528251	missense variant	-	NC_000017.11:g.58211022T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Leu311His	rs1304907848	missense variant	-	NC_000017.11:g.58211006A>T	gnomAD
MKS1	Q9NXB0	p.Arg312Leu	rs369483945	missense variant	-	NC_000017.11:g.58211003C>A	ESP,ExAC,gnomAD
MKS1	Q9NXB0	p.Arg312Pro	rs369483945	missense variant	-	NC_000017.11:g.58211003C>G	ESP,ExAC,gnomAD
MKS1	Q9NXB0	p.Arg312Gln	rs369483945	missense variant	-	NC_000017.11:g.58211003C>T	ESP,ExAC,gnomAD
MKS1	Q9NXB0	p.Arg312GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.58211005_58211006insCCCC	NCI-TCGA
MKS1	Q9NXB0	p.Arg312Trp	rs767763740	missense variant	-	NC_000017.11:g.58211004G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Val315Glu	rs771030303	missense variant	-	NC_000017.11:g.58210994A>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Val315Ile	rs774654581	missense variant	-	NC_000017.11:g.58210995C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Val315Leu	rs774654581	missense variant	-	NC_000017.11:g.58210995C>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Gly317Glu	RCV000201588	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58210988C>T	ClinVar
MKS1	Q9NXB0	p.Gly317Glu	rs863225208	missense variant	-	NC_000017.11:g.58210988C>T	-
MKS1	Q9NXB0	p.Gly317Glu	rs863225208	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58210988C>T	UniProt,dbSNP
MKS1	Q9NXB0	p.Gly317Glu	VAR_077517	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58210988C>T	UniProt
MKS1	Q9NXB0	p.Glu318Gly	rs762973500	missense variant	-	NC_000017.11:g.58210985T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Glu318Asp	rs773255938	missense variant	-	NC_000017.11:g.58210984C>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Val319Phe	rs1393510784	missense variant	-	NC_000017.11:g.58210983C>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Val319Ile	rs1393510784	missense variant	-	NC_000017.11:g.58210983C>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Val320Ile	rs386834053	missense variant	-	NC_000017.11:g.58210980C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Val320Ile	RCV000735097	missense variant	-	NC_000017.11:g.58210980C>T	ClinVar
MKS1	Q9NXB0	p.Ser321Leu	COSM1303100	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58210721G>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Gly324Asp	rs776673480	missense variant	-	NC_000017.11:g.58210712C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Tyr325Cys	rs991364235	missense variant	-	NC_000017.11:g.58210709T>C	TOPMed
MKS1	Q9NXB0	p.Glu326Gly	rs768515749	missense variant	-	NC_000017.11:g.58210706T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Asp328Gly	rs1211138175	missense variant	-	NC_000017.11:g.58210700T>C	gnomAD
MKS1	Q9NXB0	p.Asp328Val	rs1211138175	missense variant	-	NC_000017.11:g.58210700T>A	gnomAD
MKS1	Q9NXB0	p.Val332Phe	rs775391594	missense variant	-	NC_000017.11:g.58210689C>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Val332Ile	rs775391594	missense variant	-	NC_000017.11:g.58210689C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Val332Ile	RCV000174135	missense variant	-	NC_000017.11:g.58210689C>T	ClinVar
MKS1	Q9NXB0	p.His333Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58210686G>T	NCI-TCGA
MKS1	Q9NXB0	p.Val336Glu	rs772205041	missense variant	-	NC_000017.11:g.58210676A>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Val336Ala	rs772205041	missense variant	-	NC_000017.11:g.58210676A>G	ExAC,gnomAD
MKS1	Q9NXB0	p.Glu337Gly	rs1332731542	missense variant	-	NC_000017.11:g.58210673T>C	TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu337Lys	rs745789469	missense variant	-	NC_000017.11:g.58210674C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr340Ala	rs1178977255	missense variant	-	NC_000017.11:g.58210665T>C	TOPMed
MKS1	Q9NXB0	p.His342Tyr	rs1357107885	missense variant	-	NC_000017.11:g.58210659G>A	gnomAD
MKS1	Q9NXB0	p.Trp343Ter	rs567026924	stop gained	-	NC_000017.11:g.58208580C>T	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Trp343Ser	rs567026924	missense variant	-	NC_000017.11:g.58208580C>G	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Ser344Ter	rs760971749	stop gained	-	NC_000017.11:g.58208577G>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Pro346Ser	RCV000593017	missense variant	-	NC_000017.11:g.58208572G>A	ClinVar
MKS1	Q9NXB0	p.Pro346Ser	rs538164532	missense variant	-	NC_000017.11:g.58208572G>A	-
MKS1	Q9NXB0	p.Gln349Arg	rs375559691	missense variant	-	NC_000017.11:g.58208562T>C	ESP,TOPMed
MKS1	Q9NXB0	p.Gln350Glu	rs386834041	missense variant	-	NC_000017.11:g.58208560G>C	-
MKS1	Q9NXB0	p.Gln350Ter	rs386834041	stop gained	-	NC_000017.11:g.58208560G>A	-
MKS1	Q9NXB0	p.Gln350Glu	RCV000050026	missense variant	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58208560G>C	ClinVar
MKS1	Q9NXB0	p.Gln350Ter	RCV000050027	nonsense	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58208560G>A	ClinVar
MKS1	Q9NXB0	p.Ser352Leu	RCV000520954	missense variant	-	NC_000017.11:g.58208553G>A	ClinVar
MKS1	Q9NXB0	p.Ser352Leu	rs1293609717	missense variant	-	NC_000017.11:g.58208553G>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly353Glu	rs771939064	missense variant	-	NC_000017.11:g.58208550C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Val354Gly	COSM3672518	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58208547A>C	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Val354Leu	rs1268138960	missense variant	-	NC_000017.11:g.58208548C>A	TOPMed
MKS1	Q9NXB0	p.Thr355Ala	rs745809472	missense variant	-	NC_000017.11:g.58208545T>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr355Ala	RCV000665282	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58208545T>C	ClinVar
MKS1	Q9NXB0	p.Gln356Ter	RCV000256424	nonsense	Meckel-Gruber syndrome	NC_000017.11:g.58208542G>A	ClinVar
MKS1	Q9NXB0	p.Gln356Ter	rs786205508	stop gained	-	NC_000017.11:g.58208542G>A	-
MKS1	Q9NXB0	p.Thr357Ile	rs774391311	missense variant	-	NC_000017.11:g.58208538G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr359Ile	rs1397280567	missense variant	-	NC_000017.11:g.58208532G>A	gnomAD
MKS1	Q9NXB0	p.Thr360Ala	rs770497568	missense variant	-	NC_000017.11:g.58208530T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ser362Phe	COSM3421723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58208523G>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Ser362del	VAR_076978	inframe_deletion	Joubert syndrome 28 (JBTS28) [MIM:617121]	-	UniProt
MKS1	Q9NXB0	p.Ala364Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58208517G>A	NCI-TCGA
MKS1	Q9NXB0	p.Ala364Pro	rs769389013	missense variant	-	NC_000017.11:g.58208518C>G	ExAC,gnomAD
MKS1	Q9NXB0	p.Met365Val	rs750926734	missense variant	-	NC_000017.11:g.58208515T>C	-
MKS1	Q9NXB0	p.Met365Ile	rs1440032995	missense variant	-	NC_000017.11:g.58208513C>G	TOPMed
MKS1	Q9NXB0	p.Asp366Glu	rs1374437999	missense variant	-	NC_000017.11:g.58208172G>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Asp366Glu	rs1374437999	missense variant	-	NC_000017.11:g.58208172G>C	TOPMed,gnomAD
MKS1	Q9NXB0	p.Lys367Asn	rs1192776278	missense variant	-	NC_000017.11:g.58208169C>G	TOPMed
MKS1	Q9NXB0	p.Val368Met	rs762800635	missense variant	-	NC_000017.11:g.58208168C>T	ExAC
MKS1	Q9NXB0	p.His370Gln	rs1171331449	missense variant	-	NC_000017.11:g.58208160G>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.His370Pro	rs985013363	missense variant	-	NC_000017.11:g.58208161T>G	TOPMed
MKS1	Q9NXB0	p.Phe371Leu	rs950609840	missense variant	-	NC_000017.11:g.58208157G>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Phe371Leu	RCV000595148	missense variant	-	NC_000017.11:g.58208157G>T	ClinVar
MKS1	Q9NXB0	p.Phe371del	VAR_062290	inframe_deletion	Bardet-Biedl syndrome 13 (BBS13) [MIM:615990]	-	UniProt
MKS1	Q9NXB0	p.Ser372Phe	rs1433377596	missense variant	-	NC_000017.11:g.58208155G>A	TOPMed
MKS1	Q9NXB0	p.Ser372del	VAR_077518	inframe_deletion	Meckel syndrome 1 (MKS1) [MIM:249000]	-	UniProt
MKS1	Q9NXB0	p.Pro374Ser	RCV000311270	missense variant	-	NC_000017.11:g.58208150G>A	ClinVar
MKS1	Q9NXB0	p.Pro374Ser	rs886044314	missense variant	-	NC_000017.11:g.58208150G>A	-
MKS1	Q9NXB0	p.Pro374Leu	rs773157492	missense variant	-	NC_000017.11:g.58208149G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Pro374Arg	rs773157492	missense variant	-	NC_000017.11:g.58208149G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Phe375Ile	rs769312467	missense variant	-	NC_000017.11:g.58208147A>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr376Met	rs200350173	missense variant	-	NC_000017.11:g.58208143G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Phe377Ile	rs1298053966	missense variant	-	NC_000017.11:g.58208141A>T	TOPMed
MKS1	Q9NXB0	p.Phe377LeuPheSerTerUnkUnk	COSM5106438	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58208139A>-	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Phe380Val	rs774595103	missense variant	-	NC_000017.11:g.58208132A>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Leu382Phe	rs771262017	missense variant	-	NC_000017.11:g.58208126G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.His383Arg	rs1337963181	missense variant	-	NC_000017.11:g.58208122T>C	gnomAD
MKS1	Q9NXB0	p.Ser388Cys	rs1401192823	missense variant	-	NC_000017.11:g.58208107G>C	gnomAD
MKS1	Q9NXB0	p.Ser388Pro	rs1272465940	missense variant	-	NC_000017.11:g.58208108A>G	gnomAD
MKS1	Q9NXB0	p.Asp389Val	rs373004412	missense variant	-	NC_000017.11:g.58208001T>A	ESP,TOPMed
MKS1	Q9NXB0	p.Ala390Thr	rs1278555332	missense variant	-	NC_000017.11:g.58207999C>T	gnomAD
MKS1	Q9NXB0	p.Ala390Val	rs1007977525	missense variant	-	NC_000017.11:g.58207998G>A	TOPMed
MKS1	Q9NXB0	p.Pro392Leu	RCV000666000	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58207992G>A	ClinVar
MKS1	Q9NXB0	p.Pro392Ala	rs1439633228	missense variant	-	NC_000017.11:g.58207993G>C	gnomAD
MKS1	Q9NXB0	p.Pro392Leu	RCV000204612	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58207992G>A	ClinVar
MKS1	Q9NXB0	p.Pro392Leu	rs763534380	missense variant	-	NC_000017.11:g.58207992G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu393Asp	rs1422032983	missense variant	-	NC_000017.11:g.58207988C>A	TOPMed
MKS1	Q9NXB0	p.Trp394Cys	rs889084910	missense variant	-	NC_000017.11:g.58207985C>A	TOPMed
MKS1	Q9NXB0	p.Cys399Ser	RCV000174784	missense variant	-	NC_000017.11:g.58207971C>G	ClinVar
MKS1	Q9NXB0	p.Cys399Phe	rs144764478	missense variant	-	NC_000017.11:g.58207971C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Cys399Ser	rs144764478	missense variant	-	NC_000017.11:g.58207971C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Cys399Tyr	rs144764478	missense variant	-	NC_000017.11:g.58207971C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Val401Ile	rs1166766268	missense variant	-	NC_000017.11:g.58207966C>T	gnomAD
MKS1	Q9NXB0	p.Leu402Phe	RCV000504478	missense variant	-	NC_000017.11:g.58207963G>A	ClinVar
MKS1	Q9NXB0	p.Leu402Pro	rs1295464168	missense variant	-	NC_000017.11:g.58207962A>G	TOPMed
MKS1	Q9NXB0	p.Leu402Phe	rs1555597681	missense variant	-	NC_000017.11:g.58207963G>A	-
MKS1	Q9NXB0	p.Ser403Leu	RCV000479872	missense variant	-	NC_000017.11:g.58207959G>A	ClinVar
MKS1	Q9NXB0	p.Ser403Trp	rs773684291	missense variant	-	NC_000017.11:g.58207959G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ser403Leu	rs773684291	missense variant	-	NC_000017.11:g.58207959G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Asp405Glu	rs1240101157	missense variant	-	NC_000017.11:g.58207952G>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Asp405Asn	rs372554696	missense variant	-	NC_000017.11:g.58207954C>T	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Asp405Asn	RCV000598192	missense variant	-	NC_000017.11:g.58207954C>T	ClinVar
MKS1	Q9NXB0	p.Trp407Arg	rs1468389010	missense variant	-	NC_000017.11:g.58207948A>G	gnomAD
MKS1	Q9NXB0	p.Gln408Ter	rs781423785	stop gained	-	NC_000017.11:g.58207945G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Tyr410Phe	rs774267957	missense variant	-	NC_000017.11:g.58207938T>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Tyr410Cys	rs774267957	missense variant	-	NC_000017.11:g.58207938T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg411Cys	rs201036775	missense variant	-	NC_000017.11:g.58207936G>A	1000Genomes,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg411His	rs200679238	missense variant	-	NC_000017.11:g.58207935C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg411Pro	rs200679238	missense variant	-	NC_000017.11:g.58207935C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly414Ser	rs1178459205	missense variant	-	NC_000017.11:g.58207927C>T	TOPMed
MKS1	Q9NXB0	p.Tyr415Cys	rs765002709	missense variant	-	NC_000017.11:g.58207923T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ala417Ter	RCV000732371	frameshift	-	NC_000017.11:g.58207921del	ClinVar
MKS1	Q9NXB0	p.Val418Ala	rs886053169	missense variant	-	NC_000017.11:g.58207914A>G	-
MKS1	Q9NXB0	p.Val418Met	rs1555597614	missense variant	-	NC_000017.11:g.58207915C>T	-
MKS1	Q9NXB0	p.Val418Met	RCV000594309	missense variant	-	NC_000017.11:g.58207915C>T	ClinVar
MKS1	Q9NXB0	p.Val418Ala	RCV000401138	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58207914A>G	ClinVar
MKS1	Q9NXB0	p.Val418Ala	RCV000307167	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58207914A>G	ClinVar
MKS1	Q9NXB0	p.Pro421Ser	RCV000201767	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58207906G>A	ClinVar
MKS1	Q9NXB0	p.Pro421Ser	rs863225210	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58207906G>A	UniProt,dbSNP
MKS1	Q9NXB0	p.Pro421Ser	VAR_077520	missense variant	Meckel syndrome 1 (MKS1)	NC_000017.11:g.58207906G>A	UniProt
MKS1	Q9NXB0	p.Pro421Ser	rs863225210	missense variant	-	NC_000017.11:g.58207906G>A	-
MKS1	Q9NXB0	p.Ala422Thr	rs1327805521	missense variant	-	NC_000017.11:g.58207903C>T	gnomAD
MKS1	Q9NXB0	p.Thr423Ala	rs763627565	missense variant	-	NC_000017.11:g.58207900T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr423Ile	rs760184188	missense variant	-	NC_000017.11:g.58207899G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr423Ile	RCV000674523	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58207899G>A	ClinVar
MKS1	Q9NXB0	p.Gly425Arg	rs774840755	missense variant	-	NC_000017.11:g.58207894C>G	ExAC,gnomAD
MKS1	Q9NXB0	p.His427Tyr	rs141741656	missense variant	-	NC_000017.11:g.58207213G>A	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr428Ser	rs1211784754	missense variant	-	NC_000017.11:g.58207210T>A	gnomAD
MKS1	Q9NXB0	p.Ser432Pro	rs759662552	missense variant	-	NC_000017.11:g.58207198A>G	ExAC,gnomAD
MKS1	Q9NXB0	p.Ser432Phe	rs774384333	missense variant	-	NC_000017.11:g.58207197G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr433Met	rs755841031	missense variant	-	NC_000017.11:g.58207194G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr433Met	RCV000593432	missense variant	-	NC_000017.11:g.58207194G>A	ClinVar
MKS1	Q9NXB0	p.Pro436His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58207185G>T	NCI-TCGA
MKS1	Q9NXB0	p.Val437Leu	RCV000299650	missense variant	-	NC_000017.11:g.58207183C>G	ClinVar
MKS1	Q9NXB0	p.Val437Leu	rs886043544	missense variant	-	NC_000017.11:g.58207183C>G	-
MKS1	Q9NXB0	p.Leu439Pro	rs1325790652	missense variant	-	NC_000017.11:g.58207176A>G	gnomAD
MKS1	Q9NXB0	p.Gly440Asp	COSM4068090	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58207173C>T	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Gly440Ser	rs773075697	missense variant	-	NC_000017.11:g.58207174C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Thr441Met	rs367625961	missense variant	-	NC_000017.11:g.58207170G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr441Met	RCV000346858	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58207170G>A	ClinVar
MKS1	Q9NXB0	p.Thr441Met	RCV000592032	missense variant	-	NC_000017.11:g.58207170G>A	ClinVar
MKS1	Q9NXB0	p.Thr441Met	RCV000291999	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58207170G>A	ClinVar
MKS1	Q9NXB0	p.Val442Gly	rs754930606	missense variant	-	NC_000017.11:g.58207167A>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Ala443Val	rs1419374595	missense variant	-	NC_000017.11:g.58207164G>A	TOPMed
MKS1	Q9NXB0	p.Arg447Ser	RCV000729379	missense variant	-	NC_000017.11:g.58207151C>G	ClinVar
MKS1	Q9NXB0	p.Arg447Lys	rs779697924	missense variant	-	NC_000017.11:g.58207152C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg447Ser	rs1294257326	missense variant	-	NC_000017.11:g.58207151C>G	gnomAD
MKS1	Q9NXB0	p.Phe448Cys	RCV000733094	missense variant	-	NC_000017.11:g.58207149A>C	ClinVar
MKS1	Q9NXB0	p.Phe449Leu	rs1191657102	missense variant	-	NC_000017.11:g.58207147A>G	gnomAD
MKS1	Q9NXB0	p.Phe449Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58207145G>T	NCI-TCGA
MKS1	Q9NXB0	p.Ile450Thr	rs200865108	missense variant	-	NC_000017.11:g.58207143A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ile450Thr	rs200865108	missense variant	-	NC_000017.11:g.58207143A>G	UniProt,dbSNP
MKS1	Q9NXB0	p.Ile450Thr	VAR_062291	missense variant	-	NC_000017.11:g.58207143A>G	UniProt
MKS1	Q9NXB0	p.Ile450Thr	RCV000280753	missense variant	-	NC_000017.11:g.58207143A>G	ClinVar
MKS1	Q9NXB0	p.Gly452Ser	rs538819956	missense variant	-	NC_000017.11:g.58207138C>T	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu455Asp	rs1354483517	missense variant	-	NC_000017.11:g.58207127T>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu455Gln	rs199927741	missense variant	-	NC_000017.11:g.58207129C>G	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu455Gln	RCV000284786	missense variant	-	NC_000017.11:g.58207129C>G	ClinVar
MKS1	Q9NXB0	p.Leu456Pro	rs1395940683	missense variant	-	NC_000017.11:g.58207125A>G	TOPMed
MKS1	Q9NXB0	p.Glu457Asp	rs1313546665	missense variant	-	NC_000017.11:g.58207121C>G	TOPMed
MKS1	Q9NXB0	p.Asp458Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58207119T>C	NCI-TCGA
MKS1	Q9NXB0	p.Asp458Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58207118G>C	NCI-TCGA
MKS1	Q9NXB0	p.Leu459Val	rs1217066269	missense variant	-	NC_000017.11:g.58207117G>C	TOPMed
MKS1	Q9NXB0	p.Ser460Phe	rs760032525	missense variant	-	NC_000017.11:g.58207113G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Tyr461Cys	rs730882120	missense variant	-	NC_000017.11:g.58207110T>C	TOPMed,gnomAD
MKS1	Q9NXB0	p.Tyr461Cys	RCV000161134	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58207110T>C	ClinVar
MKS1	Q9NXB0	p.Arg463Gly	rs766392300	missense variant	-	NC_000017.11:g.58207105G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg463Trp	rs766392300	missense variant	-	NC_000017.11:g.58207105G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg463Gln	rs201619500	missense variant	-	NC_000017.11:g.58207104C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg463Gln	RCV000400230	missense variant	Bardet-Biedl syndrome (BBS)	NC_000017.11:g.58207104C>T	ClinVar
MKS1	Q9NXB0	p.Arg463Gln	RCV000285730	missense variant	Meckel-Gruber syndrome	NC_000017.11:g.58207104C>T	ClinVar
MKS1	Q9NXB0	p.Pro465Ter	RCV000410219	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58207099del	ClinVar
MKS1	Q9NXB0	p.Pro465Ter	RCV000410881	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58207099del	ClinVar
MKS1	Q9NXB0	p.Pro465Ter	RCV000412320	frameshift	Joubert syndrome 28 (JBTS28)	NC_000017.11:g.58207099del	ClinVar
MKS1	Q9NXB0	p.Gly466Ter	rs1393954275	stop gained	-	NC_000017.11:g.58207096C>A	gnomAD
MKS1	Q9NXB0	p.Gly470Trp	rs566204379	missense variant	-	NC_000017.11:g.58206547C>A	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Glu471Gln	rs776303055	missense variant	-	NC_000017.11:g.58206544C>G	ExAC,gnomAD
MKS1	Q9NXB0	p.Glu471Lys	rs776303055	missense variant	-	NC_000017.11:g.58206544C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg472Cys	RCV000780412	missense variant	-	NC_000017.11:g.58206541G>A	ClinVar
MKS1	Q9NXB0	p.Arg472Cys	RCV000286170	missense variant	-	NC_000017.11:g.58206541G>A	ClinVar
MKS1	Q9NXB0	p.Arg472Gly	rs181513926	missense variant	-	NC_000017.11:g.58206541G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg472Cys	rs181513926	missense variant	-	NC_000017.11:g.58206541G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg472Leu	rs772114886	missense variant	-	NC_000017.11:g.58206540C>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg472His	rs772114886	missense variant	-	NC_000017.11:g.58206540C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ser474Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58206534C>A	NCI-TCGA
MKS1	Q9NXB0	p.Arg475His	rs200026560	missense variant	-	NC_000017.11:g.58206531C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg475Cys	rs529604036	missense variant	-	NC_000017.11:g.58206532G>A	1000Genomes,ExAC,gnomAD
MKS1	Q9NXB0	p.Arg475His	RCV000518872	missense variant	-	NC_000017.11:g.58206531C>T	ClinVar
MKS1	Q9NXB0	p.Phe476Ser	rs1359228640	missense variant	-	NC_000017.11:g.58206528A>G	TOPMed,gnomAD
MKS1	Q9NXB0	p.Gly477Val	rs770548274	missense variant	-	NC_000017.11:g.58206525C>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg479His	RCV000193368	missense variant	-	NC_000017.11:g.58206519C>T	ClinVar
MKS1	Q9NXB0	p.Arg479Cys	rs769442220	missense variant	-	NC_000017.11:g.58206520G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg479Ter	RCV000673842	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206495_58206523del	ClinVar
MKS1	Q9NXB0	p.Arg479His	rs111315726	missense variant	-	NC_000017.11:g.58206519C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr480Ile	rs1411418411	missense variant	-	NC_000017.11:g.58206516G>A	gnomAD
MKS1	Q9NXB0	p.Thr482Ile	rs962001500	missense variant	-	NC_000017.11:g.58206510G>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr483Pro	rs369380403	missense variant	-	NC_000017.11:g.58206508T>G	ESP,ExAC,TOPMed
MKS1	Q9NXB0	p.Gly484Ser	rs1473936553	missense variant	-	NC_000017.11:g.58206505C>T	gnomAD
MKS1	Q9NXB0	p.Thr485Ter	RCV000050030	frameshift	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58206504_58206507dup	ClinVar
MKS1	Q9NXB0	p.Thr485Ter	RCV000230084	frameshift	Joubert syndrome (JBTS)	NC_000017.11:g.58206504_58206507dup	ClinVar
MKS1	Q9NXB0	p.Thr485Ter	RCV000340753	frameshift	MKS1-Related Disorders	NC_000017.11:g.58206504_58206507dup	ClinVar
MKS1	Q9NXB0	p.Phe488Leu	rs758937277	missense variant	-	NC_000017.11:g.58206491G>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg489Leu	rs916562674	missense variant	-	NC_000017.11:g.58206489C>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg489His	rs916562674	missense variant	-	NC_000017.11:g.58206489C>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg489Cys	rs1003579700	missense variant	-	NC_000017.11:g.58206490G>A	TOPMed
MKS1	Q9NXB0	p.Cys492Trp	RCV000665962	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206479A>C	ClinVar
MKS1	Q9NXB0	p.Cys492Tyr	rs750522668	missense variant	-	NC_000017.11:g.58206480C>T	ExAC
MKS1	Q9NXB0	p.Cys492Trp	rs137853105	missense variant	-	NC_000017.11:g.58206479A>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Cys492Trp	rs137853105	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206479A>C	UniProt,dbSNP
MKS1	Q9NXB0	p.Cys492Trp	VAR_062292	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206479A>C	UniProt
MKS1	Q9NXB0	p.Leu493Pro	rs1218016890	missense variant	-	NC_000017.11:g.58206477A>G	TOPMed
MKS1	Q9NXB0	p.Leu493Met	rs761944624	missense variant	-	NC_000017.11:g.58206478G>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Gln495Ter	COSM981750	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58206472G>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Ser496Tyr	rs764000969	missense variant	-	NC_000017.11:g.58206468G>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ser496Cys	rs764000969	missense variant	-	NC_000017.11:g.58206468G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg497Lys	rs386834045	missense variant	-	NC_000017.11:g.58206465C>T	-
MKS1	Q9NXB0	p.Arg497Lys	RCV000050031	missense variant	Meckel syndrome type 1 (MKS1)	NC_000017.11:g.58206465C>T	ClinVar
MKS1	Q9NXB0	p.Phe499Ter	RCV000671499	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206374del	ClinVar
MKS1	Q9NXB0	p.Met500Val	rs144635826	missense variant	-	NC_000017.11:g.58206373T>C	1000Genomes,ESP,TOPMed,gnomAD
MKS1	Q9NXB0	p.Glu501Ter	rs1355211474	stop gained	-	NC_000017.11:g.58206370C>A	gnomAD
MKS1	Q9NXB0	p.Glu501Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58206370C>T	NCI-TCGA
MKS1	Q9NXB0	p.Ser502Trp	RCV000591463	missense variant	-	NC_000017.11:g.58206366G>C	ClinVar
MKS1	Q9NXB0	p.Ser502Trp	rs758838271	missense variant	-	NC_000017.11:g.58206366G>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Ser502Leu	rs758838271	missense variant	-	NC_000017.11:g.58206366G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Ser503Gly	rs1328968692	missense variant	-	NC_000017.11:g.58206364T>C	TOPMed
MKS1	Q9NXB0	p.Arg508Lys	rs1052263756	missense variant	-	NC_000017.11:g.58206348C>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg508Thr	rs1052263756	missense variant	-	NC_000017.11:g.58206348C>G	TOPMed,gnomAD
MKS1	Q9NXB0	p.Met509Val	rs778890248	missense variant	-	NC_000017.11:g.58206346T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg510Ter	RCV000201584	frameshift	Joubert syndrome (JBTS)	NC_000017.11:g.58206343dup	ClinVar
MKS1	Q9NXB0	p.Arg510Gln	rs373843986	missense variant	-	NC_000017.11:g.58206342C>T	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg510Trp	rs757310695	missense variant	-	NC_000017.11:g.58206343G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg510Gly	rs757310695	missense variant	-	NC_000017.11:g.58206343G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg510Leu	rs373843986	missense variant	-	NC_000017.11:g.58206342C>A	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ser511Arg	rs9906421	missense variant	-	NC_000017.11:g.58206340T>G	TOPMed
MKS1	Q9NXB0	p.Ser511Gly	rs9906421	missense variant	-	NC_000017.11:g.58206340T>C	TOPMed
MKS1	Q9NXB0	p.Ser511Ter	RCV000667132	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206338_58206341del	ClinVar
MKS1	Q9NXB0	p.Val512Met	rs370130538	missense variant	-	NC_000017.11:g.58206337C>T	ESP,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg515Cys	rs775558298	missense variant	-	NC_000017.11:g.58206328G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg515Gly	rs775558298	missense variant	-	NC_000017.11:g.58206328G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg515His	rs200658872	missense variant	-	NC_000017.11:g.58206327C>T	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg515Leu	rs200658872	missense variant	-	NC_000017.11:g.58206327C>A	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg515Pro	rs200658872	missense variant	-	NC_000017.11:g.58206327C>G	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Leu516Pro	rs1176653635	missense variant	-	NC_000017.11:g.58206324A>G	TOPMed
MKS1	Q9NXB0	p.Gly518Glu	rs767285168	missense variant	-	NC_000017.11:g.58206318C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Gly518Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58206319C>A	NCI-TCGA
MKS1	Q9NXB0	p.Ser520Asn	rs1423720161	missense variant	-	NC_000017.11:g.58206312C>T	gnomAD
MKS1	Q9NXB0	p.Gln522His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58206305C>A	NCI-TCGA
MKS1	Q9NXB0	p.Gln522His	COSM1303099	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58206305C>G	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Ser523Arg	rs1379192126	missense variant	-	NC_000017.11:g.58206302A>T	TOPMed
MKS1	Q9NXB0	p.Ser524Cys	rs759400183	missense variant	-	NC_000017.11:g.58206300G>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Ile525Leu	rs910963522	missense variant	-	NC_000017.11:g.58206298T>G	TOPMed
MKS1	Q9NXB0	p.Asn527Ser	rs774309110	missense variant	-	NC_000017.11:g.58206291T>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Val528Met	rs1555596664	missense variant	-	NC_000017.11:g.58206289C>T	-
MKS1	Q9NXB0	p.Val528Met	RCV000598109	missense variant	-	NC_000017.11:g.58206289C>T	ClinVar
MKS1	Q9NXB0	p.Glu530Asp	rs767250536	missense variant	-	NC_000017.11:g.58206169C>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ala531Gly	rs751294519	missense variant	-	NC_000017.11:g.58206167G>C	ExAC,gnomAD
MKS1	Q9NXB0	p.Ala531Asp	rs751294519	missense variant	-	NC_000017.11:g.58206167G>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Phe532Leu	rs1347023400	missense variant	-	NC_000017.11:g.58206165A>G	gnomAD
MKS1	Q9NXB0	p.Arg533Cys	rs745946583	missense variant	-	NC_000017.11:g.58206162G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg533His	rs779093781	missense variant	-	NC_000017.11:g.58206161C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg533Leu	rs779093781	missense variant	-	NC_000017.11:g.58206161C>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg534Ter	RCV000669895	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206159G>A	ClinVar
MKS1	Q9NXB0	p.Arg534Gln	rs199910690	missense variant	-	NC_000017.11:g.58206158C>T	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg534Ter	rs772719574	stop gained	-	NC_000017.11:g.58206159G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Ala535Val	rs1396485350	missense variant	-	NC_000017.11:g.58206155G>A	TOPMed
MKS1	Q9NXB0	p.Arg536Trp	rs768171144	missense variant	-	NC_000017.11:g.58206153G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg536Leu	COSM6081358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.58206152C>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Arg536Gln	rs746283445	missense variant	-	NC_000017.11:g.58206152C>T	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg537His	rs771624307	missense variant	-	NC_000017.11:g.58206149C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Arg537Cys	rs35464956	missense variant	-	NC_000017.11:g.58206150G>A	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg537Cys	RCV000206374	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.58206150G>A	ClinVar
MKS1	Q9NXB0	p.Arg537Cys	RCV000664903	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206150G>A	ClinVar
MKS1	Q9NXB0	p.Arg538His	rs557678962	missense variant	-	NC_000017.11:g.58206146C>T	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg538Cys	rs34631184	missense variant	-	NC_000017.11:g.58206147G>A	ESP,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg538Leu	rs557678962	missense variant	-	NC_000017.11:g.58206146C>A	1000Genomes,ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Met539Ter	RCV000670665	frameshift	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206145del	ClinVar
MKS1	Q9NXB0	p.Met539Val	rs1181990344	missense variant	-	NC_000017.11:g.58206144T>C	gnomAD
MKS1	Q9NXB0	p.Met539Ile	rs1457241426	missense variant	-	NC_000017.11:g.58206142C>T	gnomAD
MKS1	Q9NXB0	p.Glu541Ter	RCV000665955	missense variant	Bardet-Biedl syndrome 13 (BBS13)	NC_000017.11:g.58206138C>A	ClinVar
MKS1	Q9NXB0	p.Glu541Ter	rs1555596538	stop gained	-	NC_000017.11:g.58206138C>A	-
MKS1	Q9NXB0	p.Ala542Thr	rs1216634734	missense variant	-	NC_000017.11:g.58206135C>T	TOPMed
MKS1	Q9NXB0	p.Arg543Trp	RCV000593854	missense variant	-	NC_000017.11:g.58206132G>A	ClinVar
MKS1	Q9NXB0	p.Arg543Trp	rs748406509	missense variant	-	NC_000017.11:g.58206132G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Arg543Gln	rs1200480979	missense variant	-	NC_000017.11:g.58206131C>T	TOPMed,gnomAD
MKS1	Q9NXB0	p.Ser545Arg	rs545364645	missense variant	-	NC_000017.11:g.58206124G>T	1000Genomes,gnomAD
MKS1	Q9NXB0	p.Ser545Asn	rs755128244	missense variant	-	NC_000017.11:g.58206125C>T	ExAC,gnomAD
MKS1	Q9NXB0	p.Pro547Arg	rs771585740	missense variant	-	NC_000017.11:g.58206119G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Pro547Ser	rs751425104	missense variant	-	NC_000017.11:g.58206120G>A	ExAC,gnomAD
MKS1	Q9NXB0	p.Pro547Leu	rs771585740	missense variant	-	NC_000017.11:g.58206119G>A	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Gln548Ter	COSM78990	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.58206117G>A	NCI-TCGA Cosmic
MKS1	Q9NXB0	p.Asp549Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.58206114C>A	NCI-TCGA
MKS1	Q9NXB0	p.Leu550Val	rs1376291853	missense variant	-	NC_000017.11:g.58206111G>C	gnomAD
MKS1	Q9NXB0	p.Pro553Ser	rs915370426	missense variant	-	NC_000017.11:g.58206102G>A	TOPMed,gnomAD
MKS1	Q9NXB0	p.Ser554Cys	rs764747820	missense variant	-	NC_000017.11:g.58206098G>C	ExAC,TOPMed,gnomAD
MKS1	Q9NXB0	p.Thr556Ile	rs1456047976	missense variant	-	NC_000017.11:g.58206092G>A	gnomAD
MKS1	Q9NXB0	p.Val558Leu	rs1235845808	missense variant	-	NC_000017.11:g.58206087C>G	gnomAD
MKS1	Q9NXB0	p.Ter560Gln	rs1286667377	stop lost	-	NC_000017.11:g.58206081A>G	gnomAD
STK32B	Q9NY57	p.Gly3Glu	rs1198437328	missense variant	-	NC_000004.12:g.5051871G>A	gnomAD
STK32B	Q9NY57	p.Gly3Trp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5051870G>T	NCI-TCGA
STK32B	Q9NY57	p.Asn4Lys	rs1299343785	missense variant	-	NC_000004.12:g.5051875C>A	TOPMed
STK32B	Q9NY57	p.His5Gln	rs148512879	missense variant	-	NC_000004.12:g.5051878C>G	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.His7Gln	rs1197877399	missense variant	-	NC_000004.12:g.5051884C>G	TOPMed,gnomAD
STK32B	Q9NY57	p.His7Tyr	rs1402332548	missense variant	-	NC_000004.12:g.5051882C>T	TOPMed
STK32B	Q9NY57	p.Lys8Glu	rs1194742604	missense variant	-	NC_000004.12:g.5051885A>G	gnomAD
STK32B	Q9NY57	p.Pro9Leu	rs753328623	missense variant	-	NC_000004.12:g.5051889C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro9Ser	rs142664782	missense variant	-	NC_000004.12:g.5051888C>T	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro9His	rs753328623	missense variant	-	NC_000004.12:g.5051889C>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro9Thr	rs142664782	missense variant	-	NC_000004.12:g.5051888C>A	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro10Thr	rs778688990	missense variant	-	NC_000004.12:g.5051891C>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro10Ser	rs778688990	missense variant	-	NC_000004.12:g.5051891C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Val11Gly	rs377478284	missense variant	-	NC_000004.12:g.5051895T>G	ESP,TOPMed,gnomAD
STK32B	Q9NY57	p.Val11Met	rs1003605453	missense variant	-	NC_000004.12:g.5051894G>A	TOPMed
STK32B	Q9NY57	p.Val11Glu	rs377478284	missense variant	-	NC_000004.12:g.5051895T>A	ESP,TOPMed,gnomAD
STK32B	Q9NY57	p.Val11Met	rs1003605453	missense variant	-	NC_000004.12:g.5051894G>A	NCI-TCGA
STK32B	Q9NY57	p.Val11CysPheSerTerUnkUnk	COSM4730575	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5051888C>-	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Asp13Gly	rs1443032951	missense variant	-	NC_000004.12:g.5051901A>G	gnomAD
STK32B	Q9NY57	p.Asn15Ser	rs1312468093	missense variant	-	NC_000004.12:g.5051907A>G	TOPMed
STK32B	Q9NY57	p.Glu16Asp	rs1385208524	missense variant	-	NC_000004.12:g.5051911G>C	gnomAD
STK32B	Q9NY57	p.Glu16Gly	rs371186002	missense variant	-	NC_000004.12:g.5051910A>G	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Glu17Lys	rs1297751294	missense variant	-	NC_000004.12:g.5051912G>A	gnomAD
STK32B	Q9NY57	p.Asn19Thr	rs778226781	missense variant	-	NC_000004.12:g.5139908A>C	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Phe20Ile	rs747384315	missense variant	-	NC_000004.12:g.5139910T>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.His22Arg	rs1411826365	missense variant	-	NC_000004.12:g.5139917A>G	gnomAD
STK32B	Q9NY57	p.Phe23Tyr	rs564594306	missense variant	-	NC_000004.12:g.5139920T>A	1000Genomes,ExAC,gnomAD
STK32B	Q9NY57	p.Arg27Gln	rs762345352	missense variant	-	NC_000004.12:g.5139932G>A	NCI-TCGA
STK32B	Q9NY57	p.Arg27Trp	rs777255527	missense variant	-	NC_000004.12:g.5139931C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg27Trp	rs777255527	missense variant	-	NC_000004.12:g.5139931C>T	NCI-TCGA,NCI-TCGA Cosmic
STK32B	Q9NY57	p.Arg27Gln	rs762345352	missense variant	-	NC_000004.12:g.5139932G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Lys31Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5139944A>G	NCI-TCGA
STK32B	Q9NY57	p.Gly32Arg	rs767165585	missense variant	-	NC_000004.12:g.5139946G>C	NCI-TCGA,NCI-TCGA Cosmic
STK32B	Q9NY57	p.Gly32Trp	rs767165585	missense variant	-	NC_000004.12:g.5139946G>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly32Arg	rs767165585	missense variant	-	NC_000004.12:g.5139946G>C	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly32Val	COSM734238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5139947G>T	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Ser33Asn	rs1273683262	missense variant	-	NC_000004.12:g.5139950G>A	gnomAD
STK32B	Q9NY57	p.Gly35Arg	COSM1429975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5139955G>A	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Gly35Glu	VAR_041166	Missense	-	-	UniProt
STK32B	Q9NY57	p.Lys36Arg	rs778124195	missense variant	-	NC_000004.12:g.5139959A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Lys36Thr	rs778124195	missense variant	-	NC_000004.12:g.5139959A>C	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Lys36Met	COSM734237	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5139959A>T	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Val37Leu	rs1199168608	missense variant	-	NC_000004.12:g.5168299G>C	TOPMed
STK32B	Q9NY57	p.Cys38Arg	rs757496156	missense variant	-	NC_000004.12:g.5168302T>C	ExAC,gnomAD
STK32B	Q9NY57	p.Ile39Val	rs750791100	missense variant	-	NC_000004.12:g.5168305A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Val40Met	rs545537211	missense variant	-	NC_000004.12:g.5168308G>A	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gln41Arg	rs1338922986	missense variant	-	NC_000004.12:g.5168312A>G	TOPMed
STK32B	Q9NY57	p.Arg43Ter	rs749831897	stop gained	-	NC_000004.12:g.5168317C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg43Gln	rs777210952	missense variant	-	NC_000004.12:g.5168318G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Thr45Ile	rs1377864060	missense variant	-	NC_000004.12:g.5168324C>T	gnomAD
STK32B	Q9NY57	p.Thr45Ala	rs770612287	missense variant	-	NC_000004.12:g.5168323A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Lys47Thr	rs1174000021	missense variant	-	NC_000004.12:g.5168330A>C	gnomAD
STK32B	Q9NY57	p.Lys47Ter	rs1229010019	stop gained	-	NC_000004.12:g.5168329A>T	gnomAD
STK32B	Q9NY57	p.Met48Arg	rs776205066	missense variant	-	NC_000004.12:g.5168333T>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Met48Thr	rs776205066	missense variant	-	NC_000004.12:g.5168333T>C	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Met48Leu	COSM1429976	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5168332A>T	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Met51Val	rs769518247	missense variant	-	NC_000004.12:g.5168341A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Met54Val	rs775454756	missense variant	-	NC_000004.12:g.5168350A>G	ExAC,gnomAD
STK32B	Q9NY57	p.Asn55His	rs1388650594	missense variant	-	NC_000004.12:g.5168353A>C	TOPMed,gnomAD
STK32B	Q9NY57	p.Asn55Asp	rs1388650594	missense variant	-	NC_000004.12:g.5168353A>G	TOPMed,gnomAD
STK32B	Q9NY57	p.Asn55Ser	rs762934069	missense variant	-	NC_000004.12:g.5168354A>G	ExAC,gnomAD
STK32B	Q9NY57	p.Gln57Pro	rs1231261387	missense variant	-	NC_000004.12:g.5168360A>C	gnomAD
STK32B	Q9NY57	p.Gln57Arg	rs1231261387	missense variant	-	NC_000004.12:g.5168360A>G	gnomAD
STK32B	Q9NY57	p.Gln57Ter	rs1305495889	stop gained	-	NC_000004.12:g.5168359C>T	gnomAD
STK32B	Q9NY57	p.Gln57His	COSM1055887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5168361G>T	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Lys58Glu	rs143425183	missense variant	-	NC_000004.12:g.5168362A>G	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Lys58Gln	rs143425183	missense variant	-	NC_000004.12:g.5168362A>C	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ile60Val	rs761860840	missense variant	-	NC_000004.12:g.5168368A>G	ExAC,gnomAD
STK32B	Q9NY57	p.Glu61Lys	rs372080812	missense variant	-	NC_000004.12:g.5168371G>A	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Glu61Gln	rs372080812	missense variant	-	NC_000004.12:g.5168371G>C	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg62Thr	rs541483207	missense variant	-	NC_000004.12:g.5168375G>C	1000Genomes,ExAC,gnomAD
STK32B	Q9NY57	p.Arg62Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5168375G>T	NCI-TCGA
STK32B	Q9NY57	p.Val65Ile	rs755414078	missense variant	-	NC_000004.12:g.5168383G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Arg66Trp	rs375561881	missense variant	-	NC_000004.12:g.5168386C>T	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg66Gln	rs751060581	missense variant	-	NC_000004.12:g.5168387G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Val68Asp	COSM4915747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5168393T>A	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Arg70Trp	rs371890370	missense variant	-	NC_000004.12:g.5168398C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg70Gln	rs200882867	missense variant	-	NC_000004.12:g.5168399G>A	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg70Leu	COSM6100342	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5168399G>T	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Glu71Lys	rs1352713397	missense variant	-	NC_000004.12:g.5168401G>A	gnomAD
STK32B	Q9NY57	p.Gln73Ter	rs988960010	stop gained	-	NC_000004.12:g.5168407C>T	TOPMed,gnomAD
STK32B	Q9NY57	p.Gln73His	rs745472588	missense variant	-	NC_000004.12:g.5168409G>C	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ile74Asn	rs769507072	missense variant	-	NC_000004.12:g.5168411T>A	ExAC,gnomAD
STK32B	Q9NY57	p.Ile74Ser	rs769507072	missense variant	-	NC_000004.12:g.5168411T>G	ExAC,gnomAD
STK32B	Q9NY57	p.Met75Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5168415G>T	NCI-TCGA
STK32B	Q9NY57	p.Gln76Glu	rs373306420	missense variant	-	NC_000004.12:g.5168416C>G	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gln76His	rs1218432857	missense variant	-	NC_000004.12:g.5168418A>T	TOPMed,gnomAD
STK32B	Q9NY57	p.Gln76Arg	rs146725950	missense variant	-	NC_000004.12:g.5168417A>G	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Gly77Arg	rs199646927	missense variant	-	NC_000004.12:g.5168419G>A	1000Genomes,ExAC,gnomAD
STK32B	Q9NY57	p.Leu78Met	rs757057483	missense variant	-	NC_000004.12:g.5168422C>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Glu79Lys	rs773370528	missense variant	-	NC_000004.12:g.5168425G>A	ExAC,gnomAD
STK32B	Q9NY57	p.His80Gln	rs140264745	missense variant	-	NC_000004.12:g.5168430C>G	ESP,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro81Arg	rs760752437	missense variant	-	NC_000004.12:g.5168432C>G	ExAC,gnomAD
STK32B	Q9NY57	p.Leu83Val	rs1325990926	missense variant	-	NC_000004.12:g.5168437C>G	TOPMed
STK32B	Q9NY57	p.Val84Asp	rs377501200	missense variant	-	NC_000004.12:g.5168441T>A	ESP,gnomAD
STK32B	Q9NY57	p.Val84Gly	rs377501200	missense variant	-	NC_000004.12:g.5168441T>G	ESP,gnomAD
STK32B	Q9NY57	p.Val84Leu	rs754198223	missense variant	-	NC_000004.12:g.5168440G>C	ExAC,gnomAD
STK32B	Q9NY57	p.Leu86Met	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5168446C>A	NCI-TCGA
STK32B	Q9NY57	p.Trp87Ter	rs1210596036	stop gained	-	NC_000004.12:g.5331220G>A	gnomAD
STK32B	Q9NY57	p.Trp87Cys	rs1210596036	missense variant	-	NC_000004.12:g.5331220G>C	gnomAD
STK32B	Q9NY57	p.Trp87Arg	rs1192711962	missense variant	-	NC_000004.12:g.5168449T>C	gnomAD
STK32B	Q9NY57	p.Tyr88Ter	rs775948330	stop gained	-	NC_000004.12:g.5331223C>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Tyr88Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5331221T>G	NCI-TCGA
STK32B	Q9NY57	p.Phe90Ser	rs763308670	missense variant	-	NC_000004.12:g.5331228T>C	ExAC,gnomAD
STK32B	Q9NY57	p.Gln91Arg	rs948957365	missense variant	-	NC_000004.12:g.5331231A>G	TOPMed
STK32B	Q9NY57	p.Asp92Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5331233G>A	NCI-TCGA
STK32B	Q9NY57	p.Glu93Val	rs1217612632	missense variant	-	NC_000004.12:g.5331237A>T	TOPMed
STK32B	Q9NY57	p.Glu93Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5331236G>A	NCI-TCGA
STK32B	Q9NY57	p.Glu94Lys	rs1201342426	missense variant	-	NC_000004.12:g.5331239G>A	TOPMed,gnomAD
STK32B	Q9NY57	p.Glu94Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5331239G>T	NCI-TCGA
STK32B	Q9NY57	p.Met96Thr	rs1377554298	missense variant	-	NC_000004.12:g.5331246T>C	TOPMed
STK32B	Q9NY57	p.Met96Ile	rs1269653643	missense variant	-	NC_000004.12:g.5331247G>A	gnomAD
STK32B	Q9NY57	p.Phe97Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5331248T>C	NCI-TCGA
STK32B	Q9NY57	p.Met98Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5331253G>A	NCI-TCGA
STK32B	Q9NY57	p.Val99Ala	rs1238710384	missense variant	-	NC_000004.12:g.5331255T>C	gnomAD
STK32B	Q9NY57	p.Val100Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5331257G>C	NCI-TCGA
STK32B	Q9NY57	p.Leu103Phe	rs549068199	missense variant	-	NC_000004.12:g.5331266C>T	1000Genomes,ExAC,gnomAD
STK32B	Q9NY57	p.Gly105Glu	rs1467502143	missense variant	-	NC_000004.12:g.5331273G>A	gnomAD
STK32B	Q9NY57	p.Gly105Arg	rs766107862	missense variant	-	NC_000004.12:g.5331272G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Gly106Asp	rs1246720519	missense variant	-	NC_000004.12:g.5331276G>A	gnomAD
STK32B	Q9NY57	p.Asp107Glu	rs1440862465	missense variant	-	NC_000004.12:g.5331280C>A	gnomAD
STK32B	Q9NY57	p.Asp107Asn	rs754708470	missense variant	-	NC_000004.12:g.5331278G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Arg109His	rs747981829	missense variant	-	NC_000004.12:g.5331285G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg109Cys	rs137874810	missense variant	-	NC_000004.12:g.5331284C>T	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.His111Arg	rs758265694	missense variant	-	NC_000004.12:g.5331291A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gln113Ter	rs1481359190	stop gained	-	NC_000004.12:g.5331296C>T	TOPMed
STK32B	Q9NY57	p.Gln114Arg	rs747038457	missense variant	-	NC_000004.12:g.5331300A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gln114Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5331300A>T	NCI-TCGA
STK32B	Q9NY57	p.Asn115Thr	rs771042556	missense variant	-	NC_000004.12:g.5331303A>C	ExAC,gnomAD
STK32B	Q9NY57	p.Asn115His	rs1437112735	missense variant	-	NC_000004.12:g.5331302A>C	gnomAD
STK32B	Q9NY57	p.Val116Met	rs776726197	missense variant	-	NC_000004.12:g.5331305G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Val116Glu	COSM6100309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5331306T>A	NCI-TCGA Cosmic
STK32B	Q9NY57	p.His117Tyr	rs1199047989	missense variant	-	NC_000004.12:g.5331308C>T	gnomAD
STK32B	Q9NY57	p.His117Gln	rs770013842	missense variant	-	NC_000004.12:g.5331310T>G	ExAC,gnomAD
STK32B	Q9NY57	p.Glu120Asp	rs1171768944	missense variant	-	NC_000004.12:g.5331319G>T	gnomAD
STK32B	Q9NY57	p.Gly121Arg	rs1468595978	missense variant	-	NC_000004.12:g.5331320G>A	TOPMed
STK32B	Q9NY57	p.Gly121Glu	rs1400249355	missense variant	-	NC_000004.12:g.5331321G>A	gnomAD
STK32B	Q9NY57	p.Val123Met	rs199915823	missense variant	-	NC_000004.12:g.5331326G>A	1000Genomes,TOPMed,gnomAD
STK32B	Q9NY57	p.Val123Leu	rs199915823	missense variant	-	NC_000004.12:g.5331326G>C	1000Genomes,TOPMed,gnomAD
STK32B	Q9NY57	p.Leu125His	rs149040164	missense variant	-	NC_000004.12:g.5331333T>A	ESP,TOPMed
STK32B	Q9NY57	p.Tyr126His	rs1343231990	missense variant	-	NC_000004.12:g.5331335T>C	TOPMed,gnomAD
STK32B	Q9NY57	p.Tyr126Asp	rs1343231990	missense variant	-	NC_000004.12:g.5331335T>G	TOPMed,gnomAD
STK32B	Q9NY57	p.Ile127Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5331339T>G	NCI-TCGA
STK32B	Q9NY57	p.Leu130Val	rs774970997	missense variant	-	NC_000004.12:g.5331347C>G	ExAC,gnomAD
STK32B	Q9NY57	p.Ala131Thr	rs765945658	missense variant	-	NC_000004.12:g.5331350G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Leu132Met	rs754612675	missense variant	-	NC_000004.12:g.5331353C>A	ExAC,gnomAD
STK32B	Q9NY57	p.Ala133Ser	rs1452327861	missense variant	-	NC_000004.12:g.5331356G>T	gnomAD
STK32B	Q9NY57	p.Ala133Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5331357C>A	NCI-TCGA
STK32B	Q9NY57	p.Leu134Met	rs1221811613	missense variant	-	NC_000004.12:g.5331359C>A	gnomAD
STK32B	Q9NY57	p.Glu135Lys	rs1489368346	missense variant	-	NC_000004.12:g.5331362G>A	gnomAD
STK32B	Q9NY57	p.Leu137Ile	rs1379294126	missense variant	-	NC_000004.12:g.5331368C>A	TOPMed
STK32B	Q9NY57	p.Arg139Met	rs1474623698	missense variant	-	NC_000004.12:g.5331375G>T	gnomAD
STK32B	Q9NY57	p.Tyr140Cys	rs758262361	missense variant	-	NC_000004.12:g.5331378A>G	ExAC,gnomAD
STK32B	Q9NY57	p.His141Asn	rs1415117623	missense variant	-	NC_000004.12:g.5331380C>A	TOPMed,gnomAD
STK32B	Q9NY57	p.Ile143Asn	rs777544377	missense variant	-	NC_000004.12:g.5331387T>A	ExAC,gnomAD
STK32B	Q9NY57	p.His144Tyr	COSM3604432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5331389C>T	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Asp146Tyr	COSM1055970	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5398208G>T	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Pro149Leu	rs749485737	missense variant	-	NC_000004.12:g.5398218C>T	ExAC,gnomAD
STK32B	Q9NY57	p.Pro149Ala	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5398217C>G	NCI-TCGA
STK32B	Q9NY57	p.Asn151Ser	rs1453797701	missense variant	-	NC_000004.12:g.5398224A>G	TOPMed,gnomAD
STK32B	Q9NY57	p.Asn151Asp	rs1461277415	missense variant	-	NC_000004.12:g.5398223A>G	gnomAD
STK32B	Q9NY57	p.Ile152Thr	rs768781989	missense variant	-	NC_000004.12:g.5398227T>C	ExAC,gnomAD
STK32B	Q9NY57	p.Ile152Val	rs141944069	missense variant	-	NC_000004.12:g.5398226A>G	ESP,TOPMed,gnomAD
STK32B	Q9NY57	p.Leu153Pro	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5398230T>C	NCI-TCGA
STK32B	Q9NY57	p.Leu154ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5398228_5398229insTTACCAATTATTCTCCCACTCCATGT	NCI-TCGA
STK32B	Q9NY57	p.Leu154Pro	rs375750468	missense variant	-	NC_000004.12:g.5398233T>C	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.His157Arg	rs1451090370	missense variant	-	NC_000004.12:g.5398242A>G	TOPMed,gnomAD
STK32B	Q9NY57	p.Gly158Arg	rs759087360	missense variant	-	NC_000004.12:g.5398244G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Gly158Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5416845G>T	NCI-TCGA
STK32B	Q9NY57	p.Gly158Glu	rs753875188	missense variant	-	NC_000004.12:g.5416845G>A	ExAC,gnomAD
STK32B	Q9NY57	p.His159Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5416847C>A	NCI-TCGA
STK32B	Q9NY57	p.Val160Ile	rs1222095654	missense variant	-	NC_000004.12:g.5416850G>A	gnomAD
STK32B	Q9NY57	p.Thr163Ala	rs796052163	missense variant	-	NC_000004.12:g.5416859A>G	-
STK32B	Q9NY57	p.Thr163Ala	RCV000190159	missense variant	Long QT syndrome (LQTS)	NC_000004.12:g.5416859A>G	ClinVar
STK32B	Q9NY57	p.Thr163Ile	rs755159915	missense variant	-	NC_000004.12:g.5416860C>T	ExAC,gnomAD
STK32B	Q9NY57	p.Asn166Ile	rs779336931	missense variant	-	NC_000004.12:g.5416869A>T	ExAC,gnomAD
STK32B	Q9NY57	p.Asn166Asp	rs1319227684	missense variant	-	NC_000004.12:g.5416868A>G	gnomAD
STK32B	Q9NY57	p.Ile167Thr	rs772605768	missense variant	-	NC_000004.12:g.5416872T>C	ExAC,gnomAD
STK32B	Q9NY57	p.Ile167Lys	rs772605768	missense variant	-	NC_000004.12:g.5416872T>A	ExAC,gnomAD
STK32B	Q9NY57	p.Ile167Val	rs748502788	missense variant	-	NC_000004.12:g.5416871A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ala168Val	rs778314748	missense variant	-	NC_000004.12:g.5416875C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Thr169Met	rs139253606	missense variant	-	NC_000004.12:g.5416878C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Val170Ala	rs1428884342	missense variant	-	NC_000004.12:g.5416881T>C	gnomAD
STK32B	Q9NY57	p.Val170Ile	rs1425433421	missense variant	-	NC_000004.12:g.5416880G>A	gnomAD
STK32B	Q9NY57	p.Val171Met	rs748812943	missense variant	-	NC_000004.12:g.5416883G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Lys172Arg	rs768281954	missense variant	-	NC_000004.12:g.5416887A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly173Arg	rs1164246090	missense variant	-	NC_000004.12:g.5416889G>C	gnomAD
STK32B	Q9NY57	p.Glu175Lys	COSM3604440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5416895G>A	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Arg176Ser	rs761561285	missense variant	-	NC_000004.12:g.5416900G>C	ExAC,gnomAD
STK32B	Q9NY57	p.Ala177Asp	rs1403270244	missense variant	-	NC_000004.12:g.5416902C>A	TOPMed,gnomAD
STK32B	Q9NY57	p.Met180Thr	rs767259344	missense variant	-	NC_000004.12:g.5416911T>C	ExAC,gnomAD
STK32B	Q9NY57	p.Met180Arg	rs767259344	missense variant	-	NC_000004.12:g.5416911T>G	ExAC,gnomAD
STK32B	Q9NY57	p.Met180Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5416912G>T	NCI-TCGA
STK32B	Q9NY57	p.Met180Val	rs1300260827	missense variant	-	NC_000004.12:g.5416910A>G	gnomAD
STK32B	Q9NY57	p.Ala181Val	rs1294117995	missense variant	-	NC_000004.12:g.5416914C>T	gnomAD
STK32B	Q9NY57	p.Ala181Gly	rs1294117995	missense variant	-	NC_000004.12:g.5416914C>G	gnomAD
STK32B	Q9NY57	p.Ala181Pro	rs773012849	missense variant	-	NC_000004.12:g.5416913G>C	ExAC,gnomAD
STK32B	Q9NY57	p.Thr183Ile	rs1323978494	missense variant	-	NC_000004.12:g.5416920C>T	gnomAD
STK32B	Q9NY57	p.Thr183Ser	rs1323978494	missense variant	-	NC_000004.12:g.5416920C>G	gnomAD
STK32B	Q9NY57	p.Pro185Ala	rs1291786613	missense variant	-	NC_000004.12:g.5416925C>G	gnomAD
STK32B	Q9NY57	p.Tyr186Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5416929A>G	NCI-TCGA
STK32B	Q9NY57	p.Tyr186Asn	rs760601120	missense variant	-	NC_000004.12:g.5416928T>A	ExAC,gnomAD
STK32B	Q9NY57	p.Met187Ile	rs1486096654	missense variant	-	NC_000004.12:g.5416933G>A	gnomAD
STK32B	Q9NY57	p.Met187Val	rs1289790004	missense variant	-	NC_000004.12:g.5416931A>G	TOPMed,gnomAD
STK32B	Q9NY57	p.Ala188Pro	rs766231043	missense variant	-	NC_000004.12:g.5416934G>C	ExAC,gnomAD
STK32B	Q9NY57	p.Pro189Thr	rs1459892984	missense variant	-	NC_000004.12:g.5446675C>A	gnomAD
STK32B	Q9NY57	p.Phe192Leu	rs529797356	missense variant	-	NC_000004.12:g.5446686C>G	1000Genomes,ExAC,gnomAD
STK32B	Q9NY57	p.Val194Ala	rs766502070	missense variant	-	NC_000004.12:g.5446691T>C	TOPMed
STK32B	Q9NY57	p.Val194Leu	rs1330532635	missense variant	-	NC_000004.12:g.5446690G>T	TOPMed
STK32B	Q9NY57	p.Tyr195Cys	rs771706652	missense variant	-	NC_000004.12:g.5446694A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Met196Leu	rs746790200	missense variant	-	NC_000004.12:g.5446696A>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asp197Asn	rs868616705	missense variant	-	NC_000004.12:g.5446699G>A	TOPMed,gnomAD
STK32B	Q9NY57	p.Asp197His	rs868616705	missense variant	-	NC_000004.12:g.5446699G>C	TOPMed,gnomAD
STK32B	Q9NY57	p.Arg198Thr	rs776507984	missense variant	-	NC_000004.12:g.5446703G>C	ExAC,gnomAD
STK32B	Q9NY57	p.Arg198Gly	rs3733182	missense variant	-	NC_000004.12:g.5446702A>G	UniProt,dbSNP
STK32B	Q9NY57	p.Arg198Gly	VAR_025899	missense variant	-	NC_000004.12:g.5446702A>G	UniProt
STK32B	Q9NY57	p.Arg198Gly	rs3733182	missense variant	-	NC_000004.12:g.5446702A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly199Asp	rs909277107	missense variant	-	NC_000004.12:g.5446706G>A	TOPMed,gnomAD
STK32B	Q9NY57	p.Pro200Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5446709C>T	NCI-TCGA
STK32B	Q9NY57	p.Pro200Arg	rs1296140074	missense variant	-	NC_000004.12:g.5446709C>G	gnomAD
STK32B	Q9NY57	p.Gly201Arg	rs767862829	missense variant	-	NC_000004.12:g.5446711G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly201Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5446712G>A	NCI-TCGA
STK32B	Q9NY57	p.Gly201Arg	rs767862829	missense variant	-	NC_000004.12:g.5446711G>C	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Tyr202His	rs1282323915	missense variant	-	NC_000004.12:g.5446714T>C	gnomAD
STK32B	Q9NY57	p.Tyr202Cys	rs1326373944	missense variant	-	NC_000004.12:g.5446715A>G	TOPMed,gnomAD
STK32B	Q9NY57	p.Ser203Leu	rs939472463	missense variant	-	NC_000004.12:g.5446718C>T	TOPMed,gnomAD
STK32B	Q9NY57	p.Pro205Ser	rs751767372	missense variant	-	NC_000004.12:g.5446723C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro205His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5446724C>A	NCI-TCGA
STK32B	Q9NY57	p.Pro205Arg	rs762123143	missense variant	-	NC_000004.12:g.5446724C>G	ExAC,gnomAD
STK32B	Q9NY57	p.Val206Ile	rs1448109220	missense variant	-	NC_000004.12:g.5446726G>A	gnomAD
STK32B	Q9NY57	p.Asp207Asn	rs750813196	missense variant	-	NC_000004.12:g.5446729G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asp207Val	rs756546346	missense variant	-	NC_000004.12:g.5446730A>T	ExAC,gnomAD
STK32B	Q9NY57	p.Trp208Cys	rs780603497	missense variant	-	NC_000004.12:g.5446734G>T	ExAC,gnomAD
STK32B	Q9NY57	p.Trp208Arg	rs1357887354	missense variant	-	NC_000004.12:g.5446732T>C	gnomAD
STK32B	Q9NY57	p.Trp209Arg	rs1169035917	missense variant	-	NC_000004.12:g.5446735T>C	gnomAD
STK32B	Q9NY57	p.Ser210Phe	rs752188160	missense variant	-	NC_000004.12:g.5446739C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ile213Met	rs1051091503	missense variant	-	NC_000004.12:g.5446749C>G	TOPMed
STK32B	Q9NY57	p.Ile213Val	rs777375854	missense variant	-	NC_000004.12:g.5446747A>G	ExAC,gnomAD
STK32B	Q9NY57	p.Ala215Asp	rs770632283	missense variant	-	NC_000004.12:g.5446754C>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Tyr216Cys	rs1049312912	missense variant	-	NC_000004.12:g.5446757A>G	-
STK32B	Q9NY57	p.Glu217Ter	rs1159886026	stop gained	-	NC_000004.12:g.5446759G>T	TOPMed
STK32B	Q9NY57	p.Leu218Pro	rs1432601507	missense variant	-	NC_000004.12:g.5446763T>C	gnomAD
STK32B	Q9NY57	p.Arg220Gln	rs373843574	missense variant	-	NC_000004.12:g.5446769G>A	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg220Trp	rs745729733	missense variant	-	NC_000004.12:g.5446768C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly221Cys	rs775620532	missense variant	-	NC_000004.12:g.5446771G>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly221Ser	rs775620532	missense variant	-	NC_000004.12:g.5446771G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro224Leu	rs200741998	missense variant	-	NC_000004.12:g.5456811C>T	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro224Arg	rs200741998	missense variant	-	NC_000004.12:g.5456811C>G	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Tyr225Ter	rs776978325	stop gained	-	NC_000004.12:g.5456815C>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Tyr225Phe	rs1315433083	missense variant	-	NC_000004.12:g.5456814A>T	TOPMed
STK32B	Q9NY57	p.Glu226Lys	rs149571946	missense variant	-	NC_000004.12:g.5456816G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.His228Asp	rs371821989	missense variant	-	NC_000004.12:g.5456822C>G	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ser229Leu	rs955790754	missense variant	-	NC_000004.12:g.5456826C>T	TOPMed
STK32B	Q9NY57	p.Val230Ile	rs1264318973	missense variant	-	NC_000004.12:g.5456828G>A	gnomAD
STK32B	Q9NY57	p.Val230Ala	rs61729663	missense variant	-	NC_000004.12:g.5456829T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Thr231Met	rs1202515538	missense variant	-	NC_000004.12:g.5456832C>T	gnomAD
STK32B	Q9NY57	p.Pro232Leu	rs767083865	missense variant	-	NC_000004.12:g.5456835C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ile233Met	rs766199227	missense variant	-	NC_000004.12:g.5456839C>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ile233Val	rs200308383	missense variant	-	NC_000004.12:g.5456837A>G	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ile233Phe	rs200308383	missense variant	-	NC_000004.12:g.5456837A>T	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asp234Asn	rs1178245103	missense variant	-	NC_000004.12:g.5456840G>A	TOPMed,gnomAD
STK32B	Q9NY57	p.Ile236Phe	rs1365190294	missense variant	-	NC_000004.12:g.5456846A>T	gnomAD
STK32B	Q9NY57	p.Asn238His	rs753559150	missense variant	-	NC_000004.12:g.5456852A>C	ExAC,gnomAD
STK32B	Q9NY57	p.Asn238Ser	rs1469186556	missense variant	-	NC_000004.12:g.5456853A>G	TOPMed,gnomAD
STK32B	Q9NY57	p.Met239Val	rs148677817	missense variant	-	NC_000004.12:g.5456855A>G	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Lys241Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5456863G>T	NCI-TCGA
STK32B	Q9NY57	p.Val242Met	rs143492079	missense variant	-	NC_000004.12:g.5456864G>A	ESP,gnomAD
STK32B	Q9NY57	p.Arg244His	rs35207488	missense variant	-	NC_000004.12:g.5456871G>A	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Arg244His	rs35207488	missense variant	-	NC_000004.12:g.5456871G>A	UniProt,dbSNP
STK32B	Q9NY57	p.Arg244His	VAR_041167	missense variant	-	NC_000004.12:g.5456871G>A	UniProt
STK32B	Q9NY57	p.Arg244Cys	rs371768913	missense variant	-	NC_000004.12:g.5456870C>T	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg244Ser	rs371768913	missense variant	-	NC_000004.12:g.5456870C>A	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.His246Gln	rs917967915	missense variant	-	NC_000004.12:g.5456878C>G	TOPMed,gnomAD
STK32B	Q9NY57	p.His246Arg	rs747160240	missense variant	-	NC_000004.12:g.5456877A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.His246Tyr	rs936223001	missense variant	-	NC_000004.12:g.5456876C>T	TOPMed
STK32B	Q9NY57	p.Tyr247His	COSM4125114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5456879T>C	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Ser248Phe	rs781445086	missense variant	-	NC_000004.12:g.5456883C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ser248Tyr	rs781445086	missense variant	-	NC_000004.12:g.5456883C>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ser248Pro	rs575973493	missense variant	-	NC_000004.12:g.5456882T>C	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ser249Phe	rs746192191	missense variant	-	NC_000004.12:g.5456886C>T	ExAC,gnomAD
STK32B	Q9NY57	p.Thr250Ala	rs1249392867	missense variant	-	NC_000004.12:g.5456888A>G	TOPMed,gnomAD
STK32B	Q9NY57	p.Thr250Arg	rs541708015	missense variant	-	NC_000004.12:g.5456889C>G	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Thr250Pro	rs1249392867	missense variant	-	NC_000004.12:g.5456888A>C	TOPMed,gnomAD
STK32B	Q9NY57	p.Thr250Met	rs541708015	missense variant	-	NC_000004.12:g.5456889C>T	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Trp251Arg	rs1180104072	missense variant	-	NC_000004.12:g.5456891T>A	TOPMed
STK32B	Q9NY57	p.Cys252Ser	rs1269396867	missense variant	-	NC_000004.12:g.5456895G>C	gnomAD
STK32B	Q9NY57	p.Gly254Ala	rs769289357	missense variant	-	NC_000004.12:g.5456901G>C	ExAC,gnomAD
STK32B	Q9NY57	p.Met255Ile	rs1001964583	missense variant	-	NC_000004.12:g.5456905G>C	TOPMed
STK32B	Q9NY57	p.Met255Thr	rs772843056	missense variant	-	NC_000004.12:g.5456904T>C	ExAC,gnomAD
STK32B	Q9NY57	p.Val256Met	rs1462573997	missense variant	-	NC_000004.12:g.5456906G>A	gnomAD
STK32B	Q9NY57	p.Ala257Pro	COSM1430102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5456909G>C	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Ala257Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5456910C>G	NCI-TCGA
STK32B	Q9NY57	p.Leu262Phe	rs767573014	missense variant	-	NC_000004.12:g.5460103C>T	ExAC,gnomAD
STK32B	Q9NY57	p.Thr264Ile	rs750469503	missense variant	-	NC_000004.12:g.5460110C>T	ExAC,gnomAD
STK32B	Q9NY57	p.Thr264Ser	rs750469503	missense variant	-	NC_000004.12:g.5460110C>G	ExAC,gnomAD
STK32B	Q9NY57	p.Lys265Arg	rs200072965	missense variant	-	NC_000004.12:g.5460113A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Lys265ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.5460110C>-	NCI-TCGA
STK32B	Q9NY57	p.Asp266Val	rs1253743392	missense variant	-	NC_000004.12:g.5460116A>T	TOPMed
STK32B	Q9NY57	p.Asp266Tyr	rs1483984721	missense variant	-	NC_000004.12:g.5460115G>T	TOPMed
STK32B	Q9NY57	p.Pro267Ser	rs375739358	missense variant	-	NC_000004.12:g.5460118C>T	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Glu268Lys	rs146714972	missense variant	-	NC_000004.12:g.5460121G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ser269Asn	rs748608814	missense variant	-	NC_000004.12:g.5460125G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Arg270His	rs201405239	missense variant	-	NC_000004.12:g.5460128G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg270Cys	rs772462903	missense variant	-	NC_000004.12:g.5460127C>T	ExAC,gnomAD
STK32B	Q9NY57	p.Val271Met	rs369572115	missense variant	-	NC_000004.12:g.5460130G>A	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ser272Pro	rs775048920	missense variant	-	NC_000004.12:g.5460133T>C	ExAC,gnomAD
STK32B	Q9NY57	p.His275Arg	rs1408968323	missense variant	-	NC_000004.12:g.5460143A>G	gnomAD
STK32B	Q9NY57	p.Asp276Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5460146A>G	NCI-TCGA
STK32B	Q9NY57	p.Ile277Thr	COSM481336	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5460149T>C	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Ser279Thr	rs1432121776	missense variant	-	NC_000004.12:g.5460155G>C	gnomAD
STK32B	Q9NY57	p.Val280Leu	rs369116885	missense variant	-	NC_000004.12:g.5460157G>C	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Val280Met	rs369116885	missense variant	-	NC_000004.12:g.5460157G>A	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Pro281Ser	rs762431140	missense variant	-	NC_000004.12:g.5460160C>T	TOPMed
STK32B	Q9NY57	p.Tyr282Ter	COSM3974936	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.5460165C>G	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Leu283Ser	rs1299582035	missense variant	-	NC_000004.12:g.5460167T>C	gnomAD
STK32B	Q9NY57	p.Asp285Gly	rs748590636	missense variant	-	NC_000004.12:g.5460173A>G	ExAC
STK32B	Q9NY57	p.Asp285Tyr	rs553561922	missense variant	-	NC_000004.12:g.5460172G>T	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asp285Asn	rs553561922	missense variant	-	NC_000004.12:g.5460172G>A	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Met286Arg	rs377258998	missense variant	-	NC_000004.12:g.5460176T>G	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Met286Ile	rs778195141	missense variant	-	NC_000004.12:g.5460177G>C	ExAC,gnomAD
STK32B	Q9NY57	p.Asn287His	rs1277827028	missense variant	-	NC_000004.12:g.5460178A>C	gnomAD
STK32B	Q9NY57	p.Trp288Cys	rs745354091	missense variant	-	NC_000004.12:g.5460183G>C	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asp289Glu	rs200401928	missense variant	-	NC_000004.12:g.5460186C>A	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ala290Val	rs150966427	missense variant	-	NC_000004.12:g.5460188C>T	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ala290Thr	rs144030427	missense variant	-	NC_000004.12:g.5460187G>A	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Phe292Leu	rs1034731914	missense variant	-	NC_000004.12:g.5460195C>G	TOPMed,gnomAD
STK32B	Q9NY57	p.Phe292Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5460195C>A	NCI-TCGA
STK32B	Q9NY57	p.Ala295Thr	rs773060917	missense variant	-	NC_000004.12:g.5460202G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Leu296Val	rs545552601	missense variant	-	NC_000004.12:g.5460205C>G	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Met297Ile	rs935407742	missense variant	-	NC_000004.12:g.5460210G>A	TOPMed
STK32B	Q9NY57	p.Pro298Arg	rs766321055	missense variant	-	NC_000004.12:g.5460212C>G	ExAC,gnomAD
STK32B	Q9NY57	p.Pro298Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5460211C>T	NCI-TCGA
STK32B	Q9NY57	p.Gly299Ser	rs759834980	missense variant	-	NC_000004.12:g.5460214G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly299Ala	rs150100756	missense variant	-	NC_000004.12:g.5460215G>C	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Phe300Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5460218T>C	NCI-TCGA
STK32B	Q9NY57	p.Val301Leu	rs1347242822	missense variant	-	NC_000004.12:g.5460220G>T	gnomAD
STK32B	Q9NY57	p.Asn303Ser	rs778234564	missense variant	-	NC_000004.12:g.5460227A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asn303His	rs1274196930	missense variant	-	NC_000004.12:g.5460226A>C	gnomAD
STK32B	Q9NY57	p.Lys304Ile	rs754519901	missense variant	-	NC_000004.12:g.5466704A>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Lys304Asn	rs937802683	missense variant	-	NC_000004.12:g.5466705A>C	TOPMed
STK32B	Q9NY57	p.Arg306Lys	rs1162259500	missense variant	-	NC_000004.12:g.5466710G>A	gnomAD
STK32B	Q9NY57	p.Arg306Ser	rs747704616	missense variant	-	NC_000004.12:g.5466711G>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Leu307Met	rs1402228525	missense variant	-	NC_000004.12:g.5466712T>A	gnomAD
STK32B	Q9NY57	p.Asn308His	rs1187248021	missense variant	-	NC_000004.12:g.5466715A>C	TOPMed
STK32B	Q9NY57	p.Asp310Gly	rs56259884	missense variant	-	NC_000004.12:g.5466722A>G	TOPMed
STK32B	Q9NY57	p.Asp310Asn	rs746880267	missense variant	-	NC_000004.12:g.5466721G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asp310Val	rs56259884	missense variant	-	NC_000004.12:g.5466722A>T	TOPMed
STK32B	Q9NY57	p.Asp310Tyr	rs746880267	missense variant	-	NC_000004.12:g.5466721G>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro311Ala	rs1338732338	missense variant	-	NC_000004.12:g.5466724C>G	gnomAD
STK32B	Q9NY57	p.Phe313Val	rs1244393797	missense variant	-	NC_000004.12:g.5466730T>G	gnomAD
STK32B	Q9NY57	p.Glu314Lys	COSM734186	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466733G>A	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Glu314Asp	rs1282641396	missense variant	-	NC_000004.12:g.5466735G>T	gnomAD
STK32B	Q9NY57	p.Glu317Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5466744G>T	NCI-TCGA
STK32B	Q9NY57	p.Glu317Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.5466742G>T	NCI-TCGA
STK32B	Q9NY57	p.Leu320Ile	rs1224629488	missense variant	-	NC_000004.12:g.5466751C>A	gnomAD
STK32B	Q9NY57	p.Glu321Gln	COSM734185	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466754G>C	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Pro324Leu	rs775656196	missense variant	-	NC_000004.12:g.5466764C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Pro324Ser	rs769949140	missense variant	-	NC_000004.12:g.5466763C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Leu325Ile	COSM4125117	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466766C>A	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Leu325Phe	rs1416721924	missense variant	-	NC_000004.12:g.5466766C>T	gnomAD
STK32B	Q9NY57	p.His326Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5466770A>G	NCI-TCGA
STK32B	Q9NY57	p.Lys328Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5466777G>T	NCI-TCGA
STK32B	Q9NY57	p.Lys330Gln	rs190741865	missense variant	-	NC_000004.12:g.5466781A>C	1000Genomes,ExAC,gnomAD
STK32B	Q9NY57	p.Arg331Ter	rs1159536062	stop gained	-	NC_000004.12:g.5466784C>T	gnomAD
STK32B	Q9NY57	p.Arg331Gln	rs1411185210	missense variant	-	NC_000004.12:g.5466785G>A	TOPMed,gnomAD
STK32B	Q9NY57	p.Ala333Thr	rs1455625517	missense variant	-	NC_000004.12:g.5466790G>A	gnomAD
STK32B	Q9NY57	p.Lys334Asn	COSM1056024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466795G>T	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Asn335Ser	rs574395382	missense variant	-	NC_000004.12:g.5466797A>G	1000Genomes,TOPMed,gnomAD
STK32B	Q9NY57	p.Asn335Thr	rs574395382	missense variant	-	NC_000004.12:g.5466797A>C	1000Genomes,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg336Ile	COSM1056025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466800G>T	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Ser337Phe	rs762211636	missense variant	-	NC_000004.12:g.5466803C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg338Lys	COSM1310126	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5466806G>A	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Gly340Asp	rs767977596	missense variant	-	NC_000004.12:g.5466812G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Lys342Glu	rs1332455670	missense variant	-	NC_000004.12:g.5466817A>G	gnomAD
STK32B	Q9NY57	p.Lys342Thr	rs55961955	missense variant	-	NC_000004.12:g.5466818A>C	-
STK32B	Q9NY57	p.Lys342Thr	rs55961955	missense variant	-	NC_000004.12:g.5466818A>C	UniProt,dbSNP
STK32B	Q9NY57	p.Lys342Thr	VAR_041169	missense variant	-	NC_000004.12:g.5466818A>C	UniProt
STK32B	Q9NY57	p.Asp343Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5466821A>G	NCI-TCGA
STK32B	Q9NY57	p.Cys345Tyr	rs750888252	missense variant	-	NC_000004.12:g.5466827G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Pro346Leu	rs146908689	missense variant	-	NC_000004.12:g.5466830C>T	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Pro346Gln	rs146908689	missense variant	-	NC_000004.12:g.5466830C>A	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Gly349Arg	rs1368885196	missense variant	-	NC_000004.12:g.5468009G>A	gnomAD
STK32B	Q9NY57	p.His350Tyr	rs369734413	missense variant	-	NC_000004.12:g.5468012C>T	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.His350Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5468013A>G	NCI-TCGA
STK32B	Q9NY57	p.Leu351Met	rs749299468	missense variant	-	NC_000004.12:g.5468015C>A	ExAC,gnomAD
STK32B	Q9NY57	p.Leu351Pro	rs768744752	missense variant	-	NC_000004.12:g.5468016T>C	ExAC,gnomAD
STK32B	Q9NY57	p.Gln352Ter	rs953423621	stop gained	-	NC_000004.12:g.5468018C>T	TOPMed,gnomAD
STK32B	Q9NY57	p.Gln352Lys	rs953423621	missense variant	-	NC_000004.12:g.5468018C>A	TOPMed,gnomAD
STK32B	Q9NY57	p.His353Arg	rs778884009	missense variant	-	NC_000004.12:g.5468022A>G	ExAC,gnomAD
STK32B	Q9NY57	p.Cys354Tyr	rs747179105	missense variant	-	NC_000004.12:g.5468025G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Leu355Trp	rs772287124	missense variant	-	NC_000004.12:g.5468028T>G	ExAC,gnomAD
STK32B	Q9NY57	p.Glu356Lys	rs773562843	missense variant	-	NC_000004.12:g.5468030G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Thr357Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5468034C>A	NCI-TCGA
STK32B	Q9NY57	p.Arg359Trp	rs761076752	missense variant	-	NC_000004.12:g.5468039C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg359Gln	rs771310611	missense variant	-	NC_000004.12:g.5468040G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg359Gly	rs761076752	missense variant	-	NC_000004.12:g.5468039C>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Glu360Asp	rs777155245	missense variant	-	NC_000004.12:g.5468044G>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Phe362Leu	COSM4125119	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5468050C>A	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Ile363Met	rs574913570	missense variant	-	NC_000004.12:g.5468053C>G	1000Genomes,gnomAD
STK32B	Q9NY57	p.Ile363Val	rs759980875	missense variant	-	NC_000004.12:g.5468051A>G	ExAC
STK32B	Q9NY57	p.Ile364Val	rs139218892	missense variant	-	NC_000004.12:g.5468054A>G	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asn366Ser	rs1263745845	missense variant	-	NC_000004.12:g.5468061A>G	gnomAD
STK32B	Q9NY57	p.Asn366His	rs751115471	missense variant	-	NC_000004.12:g.5468060A>C	ExAC,TOPMed
STK32B	Q9NY57	p.Arg367Lys	rs761548649	missense variant	-	NC_000004.12:g.5468064G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Glu368Lys	COSM129476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.5468066G>A	NCI-TCGA Cosmic
STK32B	Q9NY57	p.Glu368Ala	rs1388579198	missense variant	-	NC_000004.12:g.5468067A>C	gnomAD
STK32B	Q9NY57	p.Glu368Asp	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5468068G>T	NCI-TCGA
STK32B	Q9NY57	p.Glu368Ter	rs1187927723	stop gained	-	NC_000004.12:g.5468066G>T	gnomAD
STK32B	Q9NY57	p.Lys369Thr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5468070A>C	NCI-TCGA
STK32B	Q9NY57	p.Leu370Phe	rs752741978	missense variant	-	NC_000004.12:g.5498946C>T	ExAC,gnomAD
STK32B	Q9NY57	p.Leu370Pro	rs551254643	missense variant	-	NC_000004.12:g.5498947T>C	1000Genomes,ExAC,gnomAD
STK32B	Q9NY57	p.Arg372Lys	rs747195248	missense variant	-	NC_000004.12:g.5498953G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Gln374His	rs1482371691	missense variant	-	NC_000004.12:g.5498960G>C	gnomAD
STK32B	Q9NY57	p.Gly375Arg	rs564786429	missense variant	-	NC_000004.12:g.5498961G>A	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly375Ala	rs1253040509	missense variant	-	NC_000004.12:g.5498962G>C	gnomAD
STK32B	Q9NY57	p.Gly375Arg	rs564786429	missense variant	-	NC_000004.12:g.5498961G>C	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gln376Ter	rs1180717811	stop gained	-	NC_000004.12:g.5498964C>T	gnomAD
STK32B	Q9NY57	p.Gly377Asp	rs1432007865	missense variant	-	NC_000004.12:g.5498968G>A	gnomAD
STK32B	Q9NY57	p.Gln379Pro	rs771663015	missense variant	-	NC_000004.12:g.5498974A>C	ExAC,gnomAD
STK32B	Q9NY57	p.Leu380Arg	rs1405374914	missense variant	-	NC_000004.12:g.5498977T>G	gnomAD
STK32B	Q9NY57	p.Leu380Val	rs1309433544	missense variant	-	NC_000004.12:g.5498976C>G	gnomAD
STK32B	Q9NY57	p.Asp384Asn	rs1219913536	missense variant	-	NC_000004.12:g.5498988G>A	TOPMed,gnomAD
STK32B	Q9NY57	p.Asp384Ala	rs200454551	missense variant	-	NC_000004.12:g.5498989A>C	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ser385Gly	rs752580455	missense variant	-	NC_000004.12:g.5498991A>G	ExAC,gnomAD
STK32B	Q9NY57	p.Arg386Ter	rs758344233	stop gained	-	NC_000004.12:g.5498994C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg386Leu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5498995G>T	NCI-TCGA
STK32B	Q9NY57	p.Arg386Gln	rs367898855	missense variant	-	NC_000004.12:g.5498995G>A	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly387Val	rs183352474	missense variant	-	NC_000004.12:g.5498998G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly387Arg	rs148124898	missense variant	-	NC_000004.12:g.5498997G>A	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly387Ala	rs183352474	missense variant	-	NC_000004.12:g.5498998G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly387Arg	rs148124898	missense variant	-	NC_000004.12:g.5498997G>C	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly387Trp	rs148124898	missense variant	-	NC_000004.12:g.5498997G>T	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly389Ser	rs780591699	missense variant	-	NC_000004.12:g.5499003G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Gln390Lys	rs61729661	missense variant	-	NC_000004.12:g.5499006C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gln390Leu	rs772845296	missense variant	-	NC_000004.12:g.5499007A>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gln390Arg	rs772845296	missense variant	-	NC_000004.12:g.5499007A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gln390Glu	rs61729661	missense variant	-	NC_000004.12:g.5499006C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gln390Pro	rs772845296	missense variant	-	NC_000004.12:g.5499007A>C	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Ala391Thr	rs1229495142	missense variant	-	NC_000004.12:g.5499009G>A	TOPMed
STK32B	Q9NY57	p.Gln392Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5499012C>A	NCI-TCGA
STK32B	Q9NY57	p.Ser393Asn	rs150603763	missense variant	-	NC_000004.12:g.5499016G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Lys394Thr	rs759254514	missense variant	-	NC_000004.12:g.5499019A>C	ExAC,gnomAD
STK32B	Q9NY57	p.Gln396His	rs1370721774	missense variant	-	NC_000004.12:g.5499026G>C	gnomAD
STK32B	Q9NY57	p.Asp397Glu	rs141748481	missense variant	-	NC_000004.12:g.5499029C>G	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asp397Asn	rs764952793	missense variant	-	NC_000004.12:g.5499027G>A	ExAC,gnomAD
STK32B	Q9NY57	p.Gly398Glu	rs1437158176	missense variant	-	NC_000004.12:g.5499031G>A	TOPMed,gnomAD
STK32B	Q9NY57	p.Gly398Arg	rs558465928	missense variant	-	NC_000004.12:g.5499030G>A	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly398Arg	rs558465928	missense variant	-	NC_000004.12:g.5499030G>C	1000Genomes,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Gly398Ala	rs1437158176	missense variant	-	NC_000004.12:g.5499031G>C	TOPMed,gnomAD
STK32B	Q9NY57	p.Cys399Trp	rs141820982	missense variant	-	NC_000004.12:g.5499035C>G	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asn400Ser	rs146281109	missense variant	-	NC_000004.12:g.5499037A>G	ESP,ExAC,gnomAD
STK32B	Q9NY57	p.Asn402His	rs750565683	missense variant	-	NC_000004.12:g.5499042A>C	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Asn402Ser	rs756421946	missense variant	-	NC_000004.12:g.5499043A>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Leu403Ile	rs780502045	missense variant	-	NC_000004.12:g.5499045C>A	ExAC,gnomAD
STK32B	Q9NY57	p.Leu403Arg	rs754322386	missense variant	-	NC_000004.12:g.5499046T>G	ExAC,gnomAD
STK32B	Q9NY57	p.Leu404His	rs1473666662	missense variant	-	NC_000004.12:g.5499049T>A	TOPMed
STK32B	Q9NY57	p.Thr405Ala	rs980460562	missense variant	-	NC_000004.12:g.5499051A>G	TOPMed
STK32B	Q9NY57	p.Thr405Asn	rs755530371	missense variant	-	NC_000004.12:g.5499052C>A	ExAC
STK32B	Q9NY57	p.His406Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.5499054C>T	NCI-TCGA
STK32B	Q9NY57	p.Thr407Ile	rs889191611	missense variant	-	NC_000004.12:g.5499058C>T	TOPMed
STK32B	Q9NY57	p.Thr407Ser	rs1254143379	missense variant	-	NC_000004.12:g.5499057A>T	TOPMed
STK32B	Q9NY57	p.Cys408Arg	rs746497893	missense variant	-	NC_000004.12:g.5499060T>C	ExAC,gnomAD
STK32B	Q9NY57	p.Thr409Ser	rs1358915442	missense variant	-	NC_000004.12:g.5499063A>T	TOPMed
STK32B	Q9NY57	p.Thr409Ile	rs375434120	missense variant	-	NC_000004.12:g.5499064C>T	ESP,ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg410Gly	rs769500569	missense variant	-	NC_000004.12:g.5499066C>G	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg410Ser	rs769500569	missense variant	-	NC_000004.12:g.5499066C>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg410Cys	rs769500569	missense variant	-	NC_000004.12:g.5499066C>T	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Arg410His	rs768546143	missense variant	-	NC_000004.12:g.5499067G>A	ExAC,TOPMed,gnomAD
STK32B	Q9NY57	p.Cys412Ter	rs761837571	stop gained	-	NC_000004.12:g.5499074C>A	ExAC,gnomAD
STK32B	Q9NY57	p.Ter415SerGluUnkThrTerUnkUnk	NCI-TCGA novel	stop lost	-	NC_000004.12:g.5499082G>C	NCI-TCGA
GSKIP	Q9P0R6	p.Thr3Lys	rs1481122907	missense variant	-	NC_000014.9:g.96382255C>A	gnomAD
GSKIP	Q9P0R6	p.Thr3Ala	rs1271761626	missense variant	-	NC_000014.9:g.96382254A>G	gnomAD
GSKIP	Q9P0R6	p.Asn6Ser	rs1190934517	missense variant	-	NC_000014.9:g.96382264A>G	gnomAD
GSKIP	Q9P0R6	p.Ser11Arg	rs562745853	missense variant	-	NC_000014.9:g.96382280C>A	1000Genomes,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ser12Asn	rs1373390496	missense variant	-	NC_000014.9:g.96382282G>A	TOPMed
GSKIP	Q9P0R6	p.Ser12Gly	rs530300010	missense variant	-	NC_000014.9:g.96382281A>G	1000Genomes,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met13Val	rs1169380126	missense variant	-	NC_000014.9:g.96382284A>G	gnomAD
GSKIP	Q9P0R6	p.Ser14Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.96382287T>C	NCI-TCGA
GSKIP	Q9P0R6	p.Ser20Leu	COSM6141694	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.96382306C>T	NCI-TCGA Cosmic
GSKIP	Q9P0R6	p.Gly24Ser	rs762200712	missense variant	-	NC_000014.9:g.96382317G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Glu26Val	rs983244395	missense variant	-	NC_000014.9:g.96382324A>T	TOPMed
GSKIP	Q9P0R6	p.Glu26Ter	rs1187096597	stop gained	-	NC_000014.9:g.96382323G>T	TOPMed
GSKIP	Q9P0R6	p.Thr28Ser	rs1294989957	missense variant	-	NC_000014.9:g.96382329A>T	gnomAD
GSKIP	Q9P0R6	p.Asp29Tyr	rs373317656	missense variant	-	NC_000014.9:g.96382332G>T	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met30Val	rs1229910752	missense variant	-	NC_000014.9:g.96382335A>G	gnomAD
GSKIP	Q9P0R6	p.Lys31Thr	rs1175518747	missense variant	-	NC_000014.9:g.96382339A>C	TOPMed
GSKIP	Q9P0R6	p.Arg34Ser	rs760855629	missense variant	-	NC_000014.9:g.96382349G>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Glu36Lys	rs762900253	missense variant	-	NC_000014.9:g.96382353G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala37Gly	rs763962704	missense variant	-	NC_000014.9:g.96382357C>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Glu38Gln	rs1260460042	missense variant	-	NC_000014.9:g.96382359G>C	gnomAD
GSKIP	Q9P0R6	p.Ala39Thr	rs757002877	missense variant	-	NC_000014.9:g.96382362G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Ala39Val	rs767262215	missense variant	-	NC_000014.9:g.96382363C>T	ExAC,gnomAD
GSKIP	Q9P0R6	p.Val41Ile	rs1309454795	missense variant	-	NC_000014.9:g.96382368G>A	gnomAD
GSKIP	Q9P0R6	p.Asn42His	rs1255762375	missense variant	-	NC_000014.9:g.96382371A>C	gnomAD
GSKIP	Q9P0R6	p.Leu45Val	rs755542637	missense variant	-	NC_000014.9:g.96382380C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala47Thr	rs779558584	missense variant	-	NC_000014.9:g.96382386G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn49Ser	rs772300147	missense variant	-	NC_000014.9:g.96382393A>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met51Thr	rs889035292	missense variant	-	NC_000014.9:g.96382399T>C	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met51Leu	rs1486992897	missense variant	-	NC_000014.9:g.96382398A>C	gnomAD
GSKIP	Q9P0R6	p.Val53Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.96382404G>A	NCI-TCGA
GSKIP	Q9P0R6	p.Ser54Leu	rs773521710	missense variant	-	NC_000014.9:g.96382408C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ser54Pro	rs1352086785	missense variant	-	NC_000014.9:g.96382407T>C	gnomAD
GSKIP	Q9P0R6	p.Leu57ThrTyrCysLeuAlaProTrpAspTyrSer	NCI-TCGA novel	insertion	-	NC_000014.9:g.96382418_96382419insACATACTGCTTAGCTCCATGGGATTACAGT	NCI-TCGA
GSKIP	Q9P0R6	p.Arg58Trp	rs771137320	missense variant	-	NC_000014.9:g.96382419C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Leu	rs149577622	missense variant	-	NC_000014.9:g.96382420G>T	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Gln	rs149577622	missense variant	-	NC_000014.9:g.96382420G>A	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala60Val	rs755565686	missense variant	-	NC_000014.9:g.96382426C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Asp62His	rs1244757719	missense variant	-	NC_000014.9:g.96382431G>C	gnomAD
GSKIP	Q9P0R6	p.Val63Met	rs1157217305	missense variant	-	NC_000014.9:g.96382434G>A	TOPMed
GSKIP	Q9P0R6	p.Asn67Lys	rs1253781118	missense variant	-	NC_000014.9:g.96382448T>G	TOPMed
GSKIP	Q9P0R6	p.Thr70Ala	rs761719148	missense variant	-	NC_000014.9:g.96382455A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Thr70Ile	rs1158277308	missense variant	-	NC_000014.9:g.96382456C>T	gnomAD
GSKIP	Q9P0R6	p.Asn74Lys	rs767244629	missense variant	-	NC_000014.9:g.96382469C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Asn74Asp	rs1364373990	missense variant	-	NC_000014.9:g.96382467A>G	gnomAD
GSKIP	Q9P0R6	p.Thr81Ser	rs750181117	missense variant	-	NC_000014.9:g.96382489C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Glu82Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.96382493A>C	NCI-TCGA
GSKIP	Q9P0R6	p.Ala83Pro	rs755731284	missense variant	-	NC_000014.9:g.96382494G>C	ExAC,gnomAD
GSKIP	Q9P0R6	p.Tyr90His	rs1344313578	missense variant	-	NC_000014.9:g.96385532T>C	gnomAD
GSKIP	Q9P0R6	p.Asp93Glu	rs190255432	missense variant	-	NC_000014.9:g.96385543C>A	1000Genomes,ExAC,gnomAD
GSKIP	Q9P0R6	p.Asp97Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.96385553G>T	NCI-TCGA
GSKIP	Q9P0R6	p.His98Arg	rs1364427821	missense variant	-	NC_000014.9:g.96385557A>G	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Leu99Ile	COSM1477890	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.96385559T>A	NCI-TCGA Cosmic
GSKIP	Q9P0R6	p.Thr101Ile	rs375705512	missense variant	-	NC_000014.9:g.96385566C>T	ESP,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Pro102Ser	rs1268177362	missense variant	-	NC_000014.9:g.96385568C>T	gnomAD
GSKIP	Q9P0R6	p.Pro102Leu	rs1354192277	missense variant	-	NC_000014.9:g.96385569C>T	TOPMed
GSKIP	Q9P0R6	p.His104Arg	rs752203816	missense variant	-	NC_000014.9:g.96385575A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Thr106Arg	rs1201732024	missense variant	-	NC_000014.9:g.96385581C>G	gnomAD
GSKIP	Q9P0R6	p.Tyr108Asn	rs778275720	missense variant	-	NC_000014.9:g.96385586T>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Pro116Leu	rs1405000367	missense variant	-	NC_000014.9:g.96385611C>T	gnomAD
GSKIP	Q9P0R6	p.Ala117Thr	rs757608565	missense variant	-	NC_000014.9:g.96385613G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg119Gln	rs781445114	missense variant	-	NC_000014.9:g.96385620G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn124Lys	rs1295946209	missense variant	-	NC_000014.9:g.96385636C>G	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Leu127Arg	rs746062504	missense variant	-	NC_000014.9:g.96385644T>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Leu127Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.96385643C>A	NCI-TCGA
GSKIP	Q9P0R6	p.Gln128Arg	rs769952250	missense variant	-	NC_000014.9:g.96385647A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Gln128Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.96385646C>T	NCI-TCGA
GSKIP	Q9P0R6	p.Ala132Val	rs780009662	missense variant	-	NC_000014.9:g.96385659C>T	ExAC,gnomAD
GSKIP	Q9P0R6	p.Leu133Phe	COSM1300941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.96385663G>C	NCI-TCGA Cosmic
GSKIP	Q9P0R6	p.Arg135Gly	rs1490502014	missense variant	-	NC_000014.9:g.96385667A>G	gnomAD
GSKIP	Q9P0R6	p.Arg135Ter	rs1490502014	stop gained	-	NC_000014.9:g.96385667A>T	gnomAD
GSKIP	Q9P0R6	p.Arg135Thr	rs749319245	missense variant	-	NC_000014.9:g.96385668G>C	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asp136Glu	rs1240441946	missense variant	-	NC_000014.9:g.96385672T>G	gnomAD
GSKIP	Q9P0R6	p.Gly137Ala	rs1187323833	missense variant	-	NC_000014.9:g.96385674G>C	gnomAD
GSKIP	Q9P0R6	p.Gly137Arg	rs199588276	missense variant	-	NC_000014.9:g.96385673G>A	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Gln138Ter	rs958375813	stop gained	-	NC_000014.9:g.96385676C>T	gnomAD
GSKIP	Q9P0R6	p.Ser139Thr	rs773187816	missense variant	-	NC_000014.9:g.96385679T>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Thr3Ala	rs1271761626	missense variant	-	NC_000014.9:g.96382254A>G	gnomAD
GSKIP	Q9P0R6	p.Thr3Lys	rs1481122907	missense variant	-	NC_000014.9:g.96382255C>A	gnomAD
GSKIP	Q9P0R6	p.Asn6Ser	rs1190934517	missense variant	-	NC_000014.9:g.96382264A>G	gnomAD
GSKIP	Q9P0R6	p.Ser11Arg	rs562745853	missense variant	-	NC_000014.9:g.96382280C>A	1000Genomes,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ser12Asn	rs1373390496	missense variant	-	NC_000014.9:g.96382282G>A	TOPMed
GSKIP	Q9P0R6	p.Ser12Gly	rs530300010	missense variant	-	NC_000014.9:g.96382281A>G	1000Genomes,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met13Val	rs1169380126	missense variant	-	NC_000014.9:g.96382284A>G	gnomAD
GSKIP	Q9P0R6	p.Gly24Ser	rs762200712	missense variant	-	NC_000014.9:g.96382317G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Glu26Ter	rs1187096597	stop gained	-	NC_000014.9:g.96382323G>T	TOPMed
GSKIP	Q9P0R6	p.Glu26Val	rs983244395	missense variant	-	NC_000014.9:g.96382324A>T	TOPMed
GSKIP	Q9P0R6	p.Thr28Ser	rs1294989957	missense variant	-	NC_000014.9:g.96382329A>T	gnomAD
GSKIP	Q9P0R6	p.Asp29Tyr	rs373317656	missense variant	-	NC_000014.9:g.96382332G>T	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met30Val	rs1229910752	missense variant	-	NC_000014.9:g.96382335A>G	gnomAD
GSKIP	Q9P0R6	p.Lys31Thr	rs1175518747	missense variant	-	NC_000014.9:g.96382339A>C	TOPMed
GSKIP	Q9P0R6	p.Arg34Ser	rs760855629	missense variant	-	NC_000014.9:g.96382349G>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Glu36Lys	rs762900253	missense variant	-	NC_000014.9:g.96382353G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala37Gly	rs763962704	missense variant	-	NC_000014.9:g.96382357C>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Glu38Gln	rs1260460042	missense variant	-	NC_000014.9:g.96382359G>C	gnomAD
GSKIP	Q9P0R6	p.Ala39Val	rs767262215	missense variant	-	NC_000014.9:g.96382363C>T	ExAC,gnomAD
GSKIP	Q9P0R6	p.Ala39Thr	rs757002877	missense variant	-	NC_000014.9:g.96382362G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Val41Ile	rs1309454795	missense variant	-	NC_000014.9:g.96382368G>A	gnomAD
GSKIP	Q9P0R6	p.Asn42His	rs1255762375	missense variant	-	NC_000014.9:g.96382371A>C	gnomAD
GSKIP	Q9P0R6	p.Leu45Val	rs755542637	missense variant	-	NC_000014.9:g.96382380C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala47Thr	rs779558584	missense variant	-	NC_000014.9:g.96382386G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn49Ser	rs772300147	missense variant	-	NC_000014.9:g.96382393A>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met51Leu	rs1486992897	missense variant	-	NC_000014.9:g.96382398A>C	gnomAD
GSKIP	Q9P0R6	p.Met51Thr	rs889035292	missense variant	-	NC_000014.9:g.96382399T>C	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ser54Pro	rs1352086785	missense variant	-	NC_000014.9:g.96382407T>C	gnomAD
GSKIP	Q9P0R6	p.Ser54Leu	rs773521710	missense variant	-	NC_000014.9:g.96382408C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Trp	rs771137320	missense variant	-	NC_000014.9:g.96382419C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Gln	rs149577622	missense variant	-	NC_000014.9:g.96382420G>A	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Leu	rs149577622	missense variant	-	NC_000014.9:g.96382420G>T	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala60Val	rs755565686	missense variant	-	NC_000014.9:g.96382426C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Asp62His	rs1244757719	missense variant	-	NC_000014.9:g.96382431G>C	gnomAD
GSKIP	Q9P0R6	p.Val63Met	rs1157217305	missense variant	-	NC_000014.9:g.96382434G>A	TOPMed
GSKIP	Q9P0R6	p.Asn67Lys	rs1253781118	missense variant	-	NC_000014.9:g.96382448T>G	TOPMed
GSKIP	Q9P0R6	p.Thr70Ile	rs1158277308	missense variant	-	NC_000014.9:g.96382456C>T	gnomAD
GSKIP	Q9P0R6	p.Thr70Ala	rs761719148	missense variant	-	NC_000014.9:g.96382455A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn74Lys	rs767244629	missense variant	-	NC_000014.9:g.96382469C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Asn74Asp	rs1364373990	missense variant	-	NC_000014.9:g.96382467A>G	gnomAD
GSKIP	Q9P0R6	p.Thr81Ser	rs750181117	missense variant	-	NC_000014.9:g.96382489C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala83Pro	rs755731284	missense variant	-	NC_000014.9:g.96382494G>C	ExAC,gnomAD
GSKIP	Q9P0R6	p.Tyr90His	rs1344313578	missense variant	-	NC_000014.9:g.96385532T>C	gnomAD
GSKIP	Q9P0R6	p.Asp93Glu	rs190255432	missense variant	-	NC_000014.9:g.96385543C>A	1000Genomes,ExAC,gnomAD
GSKIP	Q9P0R6	p.His98Arg	rs1364427821	missense variant	-	NC_000014.9:g.96385557A>G	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Thr101Ile	rs375705512	missense variant	-	NC_000014.9:g.96385566C>T	ESP,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Pro102Leu	rs1354192277	missense variant	-	NC_000014.9:g.96385569C>T	TOPMed
GSKIP	Q9P0R6	p.Pro102Ser	rs1268177362	missense variant	-	NC_000014.9:g.96385568C>T	gnomAD
GSKIP	Q9P0R6	p.His104Arg	rs752203816	missense variant	-	NC_000014.9:g.96385575A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Thr106Arg	rs1201732024	missense variant	-	NC_000014.9:g.96385581C>G	gnomAD
GSKIP	Q9P0R6	p.Tyr108Asn	rs778275720	missense variant	-	NC_000014.9:g.96385586T>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Pro116Leu	rs1405000367	missense variant	-	NC_000014.9:g.96385611C>T	gnomAD
GSKIP	Q9P0R6	p.Ala117Thr	rs757608565	missense variant	-	NC_000014.9:g.96385613G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg119Gln	rs781445114	missense variant	-	NC_000014.9:g.96385620G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn124Lys	rs1295946209	missense variant	-	NC_000014.9:g.96385636C>G	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Leu127Arg	rs746062504	missense variant	-	NC_000014.9:g.96385644T>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Gln128Arg	rs769952250	missense variant	-	NC_000014.9:g.96385647A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Ala132Val	rs780009662	missense variant	-	NC_000014.9:g.96385659C>T	ExAC,gnomAD
GSKIP	Q9P0R6	p.Arg135Thr	rs749319245	missense variant	-	NC_000014.9:g.96385668G>C	ExAC,gnomAD
GSKIP	Q9P0R6	p.Arg135Gly	rs1490502014	missense variant	-	NC_000014.9:g.96385667A>G	gnomAD
GSKIP	Q9P0R6	p.Arg135Ter	rs1490502014	stop gained	-	NC_000014.9:g.96385667A>T	gnomAD
GSKIP	Q9P0R6	p.Asp136Glu	rs1240441946	missense variant	-	NC_000014.9:g.96385672T>G	gnomAD
GSKIP	Q9P0R6	p.Gly137Arg	rs199588276	missense variant	-	NC_000014.9:g.96385673G>A	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Gly137Ala	rs1187323833	missense variant	-	NC_000014.9:g.96385674G>C	gnomAD
GSKIP	Q9P0R6	p.Gln138Ter	rs958375813	stop gained	-	NC_000014.9:g.96385676C>T	gnomAD
GSKIP	Q9P0R6	p.Ser139Thr	rs773187816	missense variant	-	NC_000014.9:g.96385679T>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Thr3Ala	rs1271761626	missense variant	-	NC_000014.9:g.96382254A>G	gnomAD
GSKIP	Q9P0R6	p.Thr3Lys	rs1481122907	missense variant	-	NC_000014.9:g.96382255C>A	gnomAD
GSKIP	Q9P0R6	p.Asn6Ser	rs1190934517	missense variant	-	NC_000014.9:g.96382264A>G	gnomAD
GSKIP	Q9P0R6	p.Ser11Arg	rs562745853	missense variant	-	NC_000014.9:g.96382280C>A	1000Genomes,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ser12Asn	rs1373390496	missense variant	-	NC_000014.9:g.96382282G>A	TOPMed
GSKIP	Q9P0R6	p.Ser12Gly	rs530300010	missense variant	-	NC_000014.9:g.96382281A>G	1000Genomes,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met13Val	rs1169380126	missense variant	-	NC_000014.9:g.96382284A>G	gnomAD
GSKIP	Q9P0R6	p.Gly24Ser	rs762200712	missense variant	-	NC_000014.9:g.96382317G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Glu26Ter	rs1187096597	stop gained	-	NC_000014.9:g.96382323G>T	TOPMed
GSKIP	Q9P0R6	p.Glu26Val	rs983244395	missense variant	-	NC_000014.9:g.96382324A>T	TOPMed
GSKIP	Q9P0R6	p.Thr28Ser	rs1294989957	missense variant	-	NC_000014.9:g.96382329A>T	gnomAD
GSKIP	Q9P0R6	p.Asp29Tyr	rs373317656	missense variant	-	NC_000014.9:g.96382332G>T	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met30Val	rs1229910752	missense variant	-	NC_000014.9:g.96382335A>G	gnomAD
GSKIP	Q9P0R6	p.Lys31Thr	rs1175518747	missense variant	-	NC_000014.9:g.96382339A>C	TOPMed
GSKIP	Q9P0R6	p.Arg34Ser	rs760855629	missense variant	-	NC_000014.9:g.96382349G>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Glu36Lys	rs762900253	missense variant	-	NC_000014.9:g.96382353G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala37Gly	rs763962704	missense variant	-	NC_000014.9:g.96382357C>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Glu38Gln	rs1260460042	missense variant	-	NC_000014.9:g.96382359G>C	gnomAD
GSKIP	Q9P0R6	p.Ala39Val	rs767262215	missense variant	-	NC_000014.9:g.96382363C>T	ExAC,gnomAD
GSKIP	Q9P0R6	p.Ala39Thr	rs757002877	missense variant	-	NC_000014.9:g.96382362G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Val41Ile	rs1309454795	missense variant	-	NC_000014.9:g.96382368G>A	gnomAD
GSKIP	Q9P0R6	p.Asn42His	rs1255762375	missense variant	-	NC_000014.9:g.96382371A>C	gnomAD
GSKIP	Q9P0R6	p.Leu45Val	rs755542637	missense variant	-	NC_000014.9:g.96382380C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala47Thr	rs779558584	missense variant	-	NC_000014.9:g.96382386G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn49Ser	rs772300147	missense variant	-	NC_000014.9:g.96382393A>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met51Thr	rs889035292	missense variant	-	NC_000014.9:g.96382399T>C	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met51Leu	rs1486992897	missense variant	-	NC_000014.9:g.96382398A>C	gnomAD
GSKIP	Q9P0R6	p.Ser54Pro	rs1352086785	missense variant	-	NC_000014.9:g.96382407T>C	gnomAD
GSKIP	Q9P0R6	p.Ser54Leu	rs773521710	missense variant	-	NC_000014.9:g.96382408C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Trp	rs771137320	missense variant	-	NC_000014.9:g.96382419C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Gln	rs149577622	missense variant	-	NC_000014.9:g.96382420G>A	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Leu	rs149577622	missense variant	-	NC_000014.9:g.96382420G>T	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala60Val	rs755565686	missense variant	-	NC_000014.9:g.96382426C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Asp62His	rs1244757719	missense variant	-	NC_000014.9:g.96382431G>C	gnomAD
GSKIP	Q9P0R6	p.Val63Met	rs1157217305	missense variant	-	NC_000014.9:g.96382434G>A	TOPMed
GSKIP	Q9P0R6	p.Asn67Lys	rs1253781118	missense variant	-	NC_000014.9:g.96382448T>G	TOPMed
GSKIP	Q9P0R6	p.Thr70Ile	rs1158277308	missense variant	-	NC_000014.9:g.96382456C>T	gnomAD
GSKIP	Q9P0R6	p.Thr70Ala	rs761719148	missense variant	-	NC_000014.9:g.96382455A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn74Lys	rs767244629	missense variant	-	NC_000014.9:g.96382469C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Asn74Asp	rs1364373990	missense variant	-	NC_000014.9:g.96382467A>G	gnomAD
GSKIP	Q9P0R6	p.Thr81Ser	rs750181117	missense variant	-	NC_000014.9:g.96382489C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala83Pro	rs755731284	missense variant	-	NC_000014.9:g.96382494G>C	ExAC,gnomAD
GSKIP	Q9P0R6	p.Tyr90His	rs1344313578	missense variant	-	NC_000014.9:g.96385532T>C	gnomAD
GSKIP	Q9P0R6	p.Asp93Glu	rs190255432	missense variant	-	NC_000014.9:g.96385543C>A	1000Genomes,ExAC,gnomAD
GSKIP	Q9P0R6	p.His98Arg	rs1364427821	missense variant	-	NC_000014.9:g.96385557A>G	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Thr101Ile	rs375705512	missense variant	-	NC_000014.9:g.96385566C>T	ESP,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Pro102Leu	rs1354192277	missense variant	-	NC_000014.9:g.96385569C>T	TOPMed
GSKIP	Q9P0R6	p.Pro102Ser	rs1268177362	missense variant	-	NC_000014.9:g.96385568C>T	gnomAD
GSKIP	Q9P0R6	p.His104Arg	rs752203816	missense variant	-	NC_000014.9:g.96385575A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Thr106Arg	rs1201732024	missense variant	-	NC_000014.9:g.96385581C>G	gnomAD
GSKIP	Q9P0R6	p.Tyr108Asn	rs778275720	missense variant	-	NC_000014.9:g.96385586T>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Pro116Leu	rs1405000367	missense variant	-	NC_000014.9:g.96385611C>T	gnomAD
GSKIP	Q9P0R6	p.Ala117Thr	rs757608565	missense variant	-	NC_000014.9:g.96385613G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg119Gln	rs781445114	missense variant	-	NC_000014.9:g.96385620G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn124Lys	rs1295946209	missense variant	-	NC_000014.9:g.96385636C>G	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Leu127Arg	rs746062504	missense variant	-	NC_000014.9:g.96385644T>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Gln128Arg	rs769952250	missense variant	-	NC_000014.9:g.96385647A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Ala132Val	rs780009662	missense variant	-	NC_000014.9:g.96385659C>T	ExAC,gnomAD
GSKIP	Q9P0R6	p.Arg135Gly	rs1490502014	missense variant	-	NC_000014.9:g.96385667A>G	gnomAD
GSKIP	Q9P0R6	p.Arg135Thr	rs749319245	missense variant	-	NC_000014.9:g.96385668G>C	ExAC,gnomAD
GSKIP	Q9P0R6	p.Arg135Ter	rs1490502014	stop gained	-	NC_000014.9:g.96385667A>T	gnomAD
GSKIP	Q9P0R6	p.Asp136Glu	rs1240441946	missense variant	-	NC_000014.9:g.96385672T>G	gnomAD
GSKIP	Q9P0R6	p.Gly137Arg	rs199588276	missense variant	-	NC_000014.9:g.96385673G>A	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Gly137Ala	rs1187323833	missense variant	-	NC_000014.9:g.96385674G>C	gnomAD
GSKIP	Q9P0R6	p.Gln138Ter	rs958375813	stop gained	-	NC_000014.9:g.96385676C>T	gnomAD
GSKIP	Q9P0R6	p.Ser139Thr	rs773187816	missense variant	-	NC_000014.9:g.96385679T>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Thr3Lys	rs1481122907	missense variant	-	NC_000014.9:g.96382255C>A	gnomAD
GSKIP	Q9P0R6	p.Thr3Ala	rs1271761626	missense variant	-	NC_000014.9:g.96382254A>G	gnomAD
GSKIP	Q9P0R6	p.Asn6Ser	rs1190934517	missense variant	-	NC_000014.9:g.96382264A>G	gnomAD
GSKIP	Q9P0R6	p.Ser11Arg	rs562745853	missense variant	-	NC_000014.9:g.96382280C>A	1000Genomes,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ser12Asn	rs1373390496	missense variant	-	NC_000014.9:g.96382282G>A	TOPMed
GSKIP	Q9P0R6	p.Ser12Gly	rs530300010	missense variant	-	NC_000014.9:g.96382281A>G	1000Genomes,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met13Val	rs1169380126	missense variant	-	NC_000014.9:g.96382284A>G	gnomAD
GSKIP	Q9P0R6	p.Gly24Ser	rs762200712	missense variant	-	NC_000014.9:g.96382317G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Glu26Val	rs983244395	missense variant	-	NC_000014.9:g.96382324A>T	TOPMed
GSKIP	Q9P0R6	p.Glu26Ter	rs1187096597	stop gained	-	NC_000014.9:g.96382323G>T	TOPMed
GSKIP	Q9P0R6	p.Thr28Ser	rs1294989957	missense variant	-	NC_000014.9:g.96382329A>T	gnomAD
GSKIP	Q9P0R6	p.Asp29Tyr	rs373317656	missense variant	-	NC_000014.9:g.96382332G>T	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met30Val	rs1229910752	missense variant	-	NC_000014.9:g.96382335A>G	gnomAD
GSKIP	Q9P0R6	p.Lys31Thr	rs1175518747	missense variant	-	NC_000014.9:g.96382339A>C	TOPMed
GSKIP	Q9P0R6	p.Arg34Ser	rs760855629	missense variant	-	NC_000014.9:g.96382349G>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Glu36Lys	rs762900253	missense variant	-	NC_000014.9:g.96382353G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala37Gly	rs763962704	missense variant	-	NC_000014.9:g.96382357C>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Glu38Gln	rs1260460042	missense variant	-	NC_000014.9:g.96382359G>C	gnomAD
GSKIP	Q9P0R6	p.Ala39Thr	rs757002877	missense variant	-	NC_000014.9:g.96382362G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Ala39Val	rs767262215	missense variant	-	NC_000014.9:g.96382363C>T	ExAC,gnomAD
GSKIP	Q9P0R6	p.Val41Ile	rs1309454795	missense variant	-	NC_000014.9:g.96382368G>A	gnomAD
GSKIP	Q9P0R6	p.Asn42His	rs1255762375	missense variant	-	NC_000014.9:g.96382371A>C	gnomAD
GSKIP	Q9P0R6	p.Leu45Val	rs755542637	missense variant	-	NC_000014.9:g.96382380C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala47Thr	rs779558584	missense variant	-	NC_000014.9:g.96382386G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn49Ser	rs772300147	missense variant	-	NC_000014.9:g.96382393A>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met51Thr	rs889035292	missense variant	-	NC_000014.9:g.96382399T>C	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Met51Leu	rs1486992897	missense variant	-	NC_000014.9:g.96382398A>C	gnomAD
GSKIP	Q9P0R6	p.Ser54Leu	rs773521710	missense variant	-	NC_000014.9:g.96382408C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ser54Pro	rs1352086785	missense variant	-	NC_000014.9:g.96382407T>C	gnomAD
GSKIP	Q9P0R6	p.Arg58Leu	rs149577622	missense variant	-	NC_000014.9:g.96382420G>T	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Trp	rs771137320	missense variant	-	NC_000014.9:g.96382419C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg58Gln	rs149577622	missense variant	-	NC_000014.9:g.96382420G>A	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala60Val	rs755565686	missense variant	-	NC_000014.9:g.96382426C>T	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Asp62His	rs1244757719	missense variant	-	NC_000014.9:g.96382431G>C	gnomAD
GSKIP	Q9P0R6	p.Val63Met	rs1157217305	missense variant	-	NC_000014.9:g.96382434G>A	TOPMed
GSKIP	Q9P0R6	p.Asn67Lys	rs1253781118	missense variant	-	NC_000014.9:g.96382448T>G	TOPMed
GSKIP	Q9P0R6	p.Thr70Ala	rs761719148	missense variant	-	NC_000014.9:g.96382455A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Thr70Ile	rs1158277308	missense variant	-	NC_000014.9:g.96382456C>T	gnomAD
GSKIP	Q9P0R6	p.Asn74Asp	rs1364373990	missense variant	-	NC_000014.9:g.96382467A>G	gnomAD
GSKIP	Q9P0R6	p.Asn74Lys	rs767244629	missense variant	-	NC_000014.9:g.96382469C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Thr81Ser	rs750181117	missense variant	-	NC_000014.9:g.96382489C>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Ala83Pro	rs755731284	missense variant	-	NC_000014.9:g.96382494G>C	ExAC,gnomAD
GSKIP	Q9P0R6	p.Tyr90His	rs1344313578	missense variant	-	NC_000014.9:g.96385532T>C	gnomAD
GSKIP	Q9P0R6	p.Asp93Glu	rs190255432	missense variant	-	NC_000014.9:g.96385543C>A	1000Genomes,ExAC,gnomAD
GSKIP	Q9P0R6	p.His98Arg	rs1364427821	missense variant	-	NC_000014.9:g.96385557A>G	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Thr101Ile	rs375705512	missense variant	-	NC_000014.9:g.96385566C>T	ESP,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Pro102Ser	rs1268177362	missense variant	-	NC_000014.9:g.96385568C>T	gnomAD
GSKIP	Q9P0R6	p.Pro102Leu	rs1354192277	missense variant	-	NC_000014.9:g.96385569C>T	TOPMed
GSKIP	Q9P0R6	p.His104Arg	rs752203816	missense variant	-	NC_000014.9:g.96385575A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Thr106Arg	rs1201732024	missense variant	-	NC_000014.9:g.96385581C>G	gnomAD
GSKIP	Q9P0R6	p.Tyr108Asn	rs778275720	missense variant	-	NC_000014.9:g.96385586T>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Pro116Leu	rs1405000367	missense variant	-	NC_000014.9:g.96385611C>T	gnomAD
GSKIP	Q9P0R6	p.Ala117Thr	rs757608565	missense variant	-	NC_000014.9:g.96385613G>A	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Arg119Gln	rs781445114	missense variant	-	NC_000014.9:g.96385620G>A	ExAC,gnomAD
GSKIP	Q9P0R6	p.Asn124Lys	rs1295946209	missense variant	-	NC_000014.9:g.96385636C>G	TOPMed,gnomAD
GSKIP	Q9P0R6	p.Leu127Arg	rs746062504	missense variant	-	NC_000014.9:g.96385644T>G	ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Gln128Arg	rs769952250	missense variant	-	NC_000014.9:g.96385647A>G	ExAC,gnomAD
GSKIP	Q9P0R6	p.Ala132Val	rs780009662	missense variant	-	NC_000014.9:g.96385659C>T	ExAC,gnomAD
GSKIP	Q9P0R6	p.Arg135Ter	rs1490502014	stop gained	-	NC_000014.9:g.96385667A>T	gnomAD
GSKIP	Q9P0R6	p.Arg135Thr	rs749319245	missense variant	-	NC_000014.9:g.96385668G>C	ExAC,gnomAD
GSKIP	Q9P0R6	p.Arg135Gly	rs1490502014	missense variant	-	NC_000014.9:g.96385667A>G	gnomAD
GSKIP	Q9P0R6	p.Asp136Glu	rs1240441946	missense variant	-	NC_000014.9:g.96385672T>G	gnomAD
GSKIP	Q9P0R6	p.Gly137Ala	rs1187323833	missense variant	-	NC_000014.9:g.96385674G>C	gnomAD
GSKIP	Q9P0R6	p.Gly137Arg	rs199588276	missense variant	-	NC_000014.9:g.96385673G>A	ESP,ExAC,TOPMed,gnomAD
GSKIP	Q9P0R6	p.Gln138Ter	rs958375813	stop gained	-	NC_000014.9:g.96385676C>T	gnomAD
GSKIP	Q9P0R6	p.Ser139Thr	rs773187816	missense variant	-	NC_000014.9:g.96385679T>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2Thr	rs1468803021	missense variant	-	NC_000008.11:g.60741436G>A	gnomAD
CHD7	Q9P2D1	p.Asp3Asn	rs1357950918	missense variant	-	NC_000008.11:g.60741439G>A	gnomAD
CHD7	Q9P2D1	p.Pro4Leu	rs370099061	missense variant	-	NC_000008.11:g.60741443C>T	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Gly5Arg	RCV000332889	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741445G>C	ClinVar
CHD7	Q9P2D1	p.Gly5Arg	RCV000389791	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60741445G>C	ClinVar
CHD7	Q9P2D1	p.Gly5Arg	rs886063031	missense variant	-	NC_000008.11:g.60741445G>C	-
CHD7	Q9P2D1	p.Gly5Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741446G>A	NCI-TCGA
CHD7	Q9P2D1	p.Met6Ile	rs775507949	missense variant	-	NC_000008.11:g.60741450G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Met7Thr	rs1219952010	missense variant	-	NC_000008.11:g.60741452T>C	TOPMed
CHD7	Q9P2D1	p.Glu12Lys	rs769949098	missense variant	-	NC_000008.11:g.60741466G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu12Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741467A>T	NCI-TCGA
CHD7	Q9P2D1	p.Ser18Asn	rs1280305079	missense variant	-	NC_000008.11:g.60741485G>A	gnomAD
CHD7	Q9P2D1	p.Gly20Asp	rs770139962	missense variant	-	NC_000008.11:g.60741491G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu21Arg	rs1475653682	missense variant	-	NC_000008.11:g.60741494T>G	gnomAD
CHD7	Q9P2D1	p.Glu22Gln	COSM3929608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741496G>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu22Gly	rs1361545618	missense variant	-	NC_000008.11:g.60741497A>G	TOPMed
CHD7	Q9P2D1	p.Gly23Val	rs1276525542	missense variant	-	NC_000008.11:g.60741500G>T	gnomAD
CHD7	Q9P2D1	p.Gly23Ser	rs763058890	missense variant	-	NC_000008.11:g.60741499G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu24Phe	rs1406914349	missense variant	-	NC_000008.11:g.60741502C>T	TOPMed
CHD7	Q9P2D1	p.Gly25Glu	COSM4850256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741506G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly25Arg	rs759887905	missense variant	-	NC_000008.11:g.60741505G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu26Ter	COSM1100764	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60741508G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Tyr29Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741518A>G	NCI-TCGA
CHD7	Q9P2D1	p.Pro30Leu	rs768014298	missense variant	-	NC_000008.11:g.60741521C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn32Ser	rs755642503	missense variant	-	NC_000008.11:g.60741527A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro33Arg	rs763572916	missense variant	-	NC_000008.11:g.60741530C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro33Arg	RCV000607705	missense variant	-	NC_000008.11:g.60741530C>G	ClinVar
CHD7	Q9P2D1	p.Pro33Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741530C>T	NCI-TCGA
CHD7	Q9P2D1	p.Val34Ile	rs1023797858	missense variant	-	NC_000008.11:g.60741532G>A	TOPMed
CHD7	Q9P2D1	p.Pro36Ser	rs1426578628	missense variant	-	NC_000008.11:g.60741538C>T	gnomAD
CHD7	Q9P2D1	p.Met37Leu	rs1416709395	missense variant	-	NC_000008.11:g.60741541A>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Met37Val	rs1416709395	missense variant	-	NC_000008.11:g.60741541A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly38Asp	rs1174791970	missense variant	-	NC_000008.11:g.60741545G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln40His	rs753525257	missense variant	-	NC_000008.11:g.60741552A>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met41Ile	rs756851968	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741555G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Met41Ile	VAR_068104	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741555G>A	UniProt
CHD7	Q9P2D1	p.Met41Ile	rs756851968	missense variant	-	NC_000008.11:g.60741555G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro42Ser	rs1300386910	missense variant	-	NC_000008.11:g.60741556C>T	gnomAD
CHD7	Q9P2D1	p.Ile43Val	rs201542180	missense variant	-	NC_000008.11:g.60741559A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile43Thr	rs1435948803	missense variant	-	NC_000008.11:g.60741560T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln45Arg	rs745661321	missense variant	-	NC_000008.11:g.60741566A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly46Arg	rs758174511	missense variant	-	NC_000008.11:g.60741568G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly46Val	rs527378833	missense variant	-	NC_000008.11:g.60741569G>T	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Phe47Val	rs1364452059	missense variant	-	NC_000008.11:g.60741571T>G	gnomAD
CHD7	Q9P2D1	p.Gln51Ter	rs886039523	stop gained	-	NC_000008.11:g.60741583C>T	-
CHD7	Q9P2D1	p.Gln51Ter	RCV000255545	nonsense	-	NC_000008.11:g.60741583C>T	ClinVar
CHD7	Q9P2D1	p.Gln51His	rs1032852484	missense variant	-	NC_000008.11:g.60741585G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro52Arg	rs377710972	missense variant	-	NC_000008.11:g.60741587C>G	ESP,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro52Ser	rs1203631802	missense variant	-	NC_000008.11:g.60741586C>T	TOPMed
CHD7	Q9P2D1	p.Ser53Thr	rs1225403740	missense variant	-	NC_000008.11:g.60741589T>A	TOPMed
CHD7	Q9P2D1	p.His55Arg	RCV000002116	missense variant	Kallmann syndrome 5 (KAL5)	NC_000008.11:g.60741596A>G	ClinVar
CHD7	Q9P2D1	p.His55Arg	rs121434345	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60741596A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.His55Arg	VAR_054623	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60741596A>G	UniProt
CHD7	Q9P2D1	p.His55Arg	rs121434345	missense variant	-	NC_000008.11:g.60741596A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr59Ser	rs548706525	missense variant	-	NC_000008.11:g.60741608C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn60Ser	rs749583783	missense variant	-	NC_000008.11:g.60741611A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln61Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741613C>G	NCI-TCGA
CHD7	Q9P2D1	p.Gln61Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60741613C>T	NCI-TCGA
CHD7	Q9P2D1	p.Asn62Ser	rs1380251518	missense variant	-	NC_000008.11:g.60741617A>G	gnomAD
CHD7	Q9P2D1	p.Thr64Ala	rs1299084588	missense variant	-	NC_000008.11:g.60741622A>G	TOPMed
CHD7	Q9P2D1	p.Thr64Ter	RCV000145655	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60741619_60741622CAAA[1]	ClinVar
CHD7	Q9P2D1	p.Thr67Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741632C>A	NCI-TCGA
CHD7	Q9P2D1	p.His68Arg	rs771073528	missense variant	-	NC_000008.11:g.60741635A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.His68Tyr	RCV000292236	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60741634C>T	ClinVar
CHD7	Q9P2D1	p.His68Tyr	RCV000330840	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741634C>T	ClinVar
CHD7	Q9P2D1	p.His68Tyr	rs886063032	missense variant	-	NC_000008.11:g.60741634C>T	gnomAD
CHD7	Q9P2D1	p.His68Asn	rs886063032	missense variant	-	NC_000008.11:g.60741634C>A	gnomAD
CHD7	Q9P2D1	p.Phe69Ter	RCV000481309	frameshift	-	NC_000008.11:g.60741639del	ClinVar
CHD7	Q9P2D1	p.Asp70His	rs759847780	missense variant	-	NC_000008.11:g.60741640G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr72Cys	rs767819417	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741647A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Tyr72Cys	VAR_068375	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741647A>G	UniProt
CHD7	Q9P2D1	p.Tyr72Cys	rs767819417	missense variant	-	NC_000008.11:g.60741647A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln74Arg	rs761139919	missense variant	-	NC_000008.11:g.60741653A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Tyr75His	COSM3834871	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741655T>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Lys79Arg	RCV000478136	missense variant	-	NC_000008.11:g.60741668A>G	ClinVar
CHD7	Q9P2D1	p.Lys79Arg	rs1064796792	missense variant	-	NC_000008.11:g.60741668A>G	-
CHD7	Q9P2D1	p.Met80Val	rs753270420	missense variant	-	NC_000008.11:g.60741670A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met80Ile	rs199675125	missense variant	-	NC_000008.11:g.60741672G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met80Ile	rs199675125	missense variant	-	NC_000008.11:g.60741672G>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met80Ile	RCV000175885	missense variant	-	NC_000008.11:g.60741672G>A	ClinVar
CHD7	Q9P2D1	p.Met80Leu	rs753270420	missense variant	-	NC_000008.11:g.60741670A>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.His81Arg	rs764798609	missense variant	-	NC_000008.11:g.60741674A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu82Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741677T>C	NCI-TCGA
CHD7	Q9P2D1	p.Gln85Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741686A>T	NCI-TCGA
CHD7	Q9P2D1	p.Pro86Leu	rs1355349547	missense variant	-	NC_000008.11:g.60741689C>T	gnomAD
CHD7	Q9P2D1	p.Pro86Arg	RCV000719967	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60741689C>G	ClinVar
CHD7	Q9P2D1	p.Pro86Arg	VAR_068105	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Asn87Lys	rs1358881216	missense variant	-	NC_000008.11:g.60741693C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser91Asn	RCV000175886	missense variant	-	NC_000008.11:g.60741704G>A	ClinVar
CHD7	Q9P2D1	p.Ser91Asn	rs794727294	missense variant	-	NC_000008.11:g.60741704G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn92Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741707A>G	NCI-TCGA
CHD7	Q9P2D1	p.Thr93Ala	rs398124317	missense variant	-	NC_000008.11:g.60741709A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr93Ala	rs398124317	missense variant	-	NC_000008.11:g.60741709A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Thr93Ala	VAR_068376	missense variant	-	NC_000008.11:g.60741709A>G	UniProt
CHD7	Q9P2D1	p.Thr93Ala	RCV000796849	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741709A>G	ClinVar
CHD7	Q9P2D1	p.Pro94Leu	rs1197478449	missense variant	-	NC_000008.11:g.60741713C>T	gnomAD
CHD7	Q9P2D1	p.Asn96Ter	RCV000679949	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60741714del	ClinVar
CHD7	Q9P2D1	p.Gly97Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741722G>A	NCI-TCGA
CHD7	Q9P2D1	p.Gly97Arg	rs368160678	missense variant	-	NC_000008.11:g.60741721G>A	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Leu98Ile	COSM1100770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741724C>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ala99Pro	rs779024959	missense variant	-	NC_000008.11:g.60741727G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala99Pro	rs779024959	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741727G>C	UniProt,dbSNP
CHD7	Q9P2D1	p.Ala99Pro	VAR_068377	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60741727G>C	UniProt
CHD7	Q9P2D1	p.Ala99Thr	rs779024959	missense variant	-	NC_000008.11:g.60741727G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala99Val	rs772466277	missense variant	-	NC_000008.11:g.60741728C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala99Pro	RCV000258079	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741727G>C	ClinVar
CHD7	Q9P2D1	p.Pro101Leu	rs769161426	missense variant	-	NC_000008.11:g.60741734C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.His102Asn	rs761253760	missense variant	-	NC_000008.11:g.60741736C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser103Leu	rs1242372187	missense variant	-	NC_000008.11:g.60741740C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser103Thr	rs41272435	missense variant	-	NC_000008.11:g.60741739T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser103Thr	rs41272435	missense variant	-	NC_000008.11:g.60741739T>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Ser103Thr	VAR_068106	missense variant	-	NC_000008.11:g.60741739T>A	UniProt
CHD7	Q9P2D1	p.Ser103Thr	RCV000711193	missense variant	-	NC_000008.11:g.60741739T>A	ClinVar
CHD7	Q9P2D1	p.Ser103Thr	RCV000081827	missense variant	-	NC_000008.11:g.60741739T>A	ClinVar
CHD7	Q9P2D1	p.Ser103Thr	RCV000715503	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60741739T>A	ClinVar
CHD7	Q9P2D1	p.Gln104His	rs1356622302	missense variant	-	NC_000008.11:g.60741744G>T	gnomAD
CHD7	Q9P2D1	p.Gln104Ter	rs1131691733	stop gained	-	NC_000008.11:g.60741742C>T	-
CHD7	Q9P2D1	p.Gln104Ter	RCV000493513	nonsense	-	NC_000008.11:g.60741742C>T	ClinVar
CHD7	Q9P2D1	p.Tyr105His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741745T>C	NCI-TCGA
CHD7	Q9P2D1	p.His106Tyr	COSM4909501	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741748C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Thr107Asn	rs1057234037	missense variant	-	NC_000008.11:g.60741752C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro108His	RCV000175895	missense variant	-	NC_000008.11:g.60741755C>A	ClinVar
CHD7	Q9P2D1	p.Pro108His	RCV000659293	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741755C>A	ClinVar
CHD7	Q9P2D1	p.Pro108His	RCV000825308	missense variant	-	NC_000008.11:g.60741755C>A	ClinVar
CHD7	Q9P2D1	p.Pro108His	rs369818702	missense variant	-	NC_000008.11:g.60741755C>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro108Ser	rs1404976573	missense variant	-	NC_000008.11:g.60741754C>T	TOPMed
CHD7	Q9P2D1	p.Pro109Arg	rs1201112835	missense variant	-	NC_000008.11:g.60741758C>G	gnomAD
CHD7	Q9P2D1	p.Pro109Leu	rs1201112835	missense variant	-	NC_000008.11:g.60741758C>T	gnomAD
CHD7	Q9P2D1	p.Pro109Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741757C>A	NCI-TCGA
CHD7	Q9P2D1	p.Val110Ile	rs754755486	missense variant	-	NC_000008.11:g.60741760G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro111Ser	rs147164392	missense variant	-	NC_000008.11:g.60741763C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro111Ala	rs147164392	missense variant	-	NC_000008.11:g.60741763C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro111Ser	RCV000081831	missense variant	-	NC_000008.11:g.60741763C>T	ClinVar
CHD7	Q9P2D1	p.Gln112Arg	rs757329066	missense variant	-	NC_000008.11:g.60741767A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val113Leu	COSM3675144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741769G>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly117Asp	RCV000145666	missense variant	-	NC_000008.11:g.60741782G>A	ClinVar
CHD7	Q9P2D1	p.Gly117Val	rs372110761	missense variant	-	NC_000008.11:g.60741782G>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly117Asp	rs372110761	missense variant	-	NC_000008.11:g.60741782G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Gly117Asp	VAR_072954	missense variant	-	NC_000008.11:g.60741782G>A	UniProt
CHD7	Q9P2D1	p.Gly117Asp	rs372110761	missense variant	-	NC_000008.11:g.60741782G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly119Cys	rs764675280	missense variant	-	NC_000008.11:g.60741787G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly121Ser	rs587783439	missense variant	-	NC_000008.11:g.60741793G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly121Asp	rs369516044	missense variant	-	NC_000008.11:g.60741794G>A	ESP,TOPMed
CHD7	Q9P2D1	p.Gly121Ser	RCV000145668	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741793G>A	ClinVar
CHD7	Q9P2D1	p.Gln122Ter	RCV000598561	nonsense	-	NC_000008.11:g.60741796C>T	ClinVar
CHD7	Q9P2D1	p.Gln122Ter	rs1554581127	stop gained	-	NC_000008.11:g.60741796C>T	-
CHD7	Q9P2D1	p.Gly124Val	rs1399061308	missense variant	-	NC_000008.11:g.60741803G>T	gnomAD
CHD7	Q9P2D1	p.Val125Gly	rs566085835	missense variant	-	NC_000008.11:g.60741806T>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Val125Ala	rs566085835	missense variant	-	NC_000008.11:g.60741806T>C	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Val125Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741805G>T	NCI-TCGA
CHD7	Q9P2D1	p.Tyr126Cys	rs1319506534	missense variant	-	NC_000008.11:g.60741809A>G	gnomAD
CHD7	Q9P2D1	p.Tyr126Ter	RCV000736079	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60741810C>A	ClinVar
CHD7	Q9P2D1	p.Pro127Ter	RCV000301751	frameshift	-	NC_000008.11:g.60741812del	ClinVar
CHD7	Q9P2D1	p.Gly128Asp	rs1486863412	missense variant	-	NC_000008.11:g.60741815G>A	TOPMed
CHD7	Q9P2D1	p.Met129Val	rs1254843858	missense variant	-	NC_000008.11:g.60741817A>G	gnomAD
CHD7	Q9P2D1	p.Met129Ile	rs1344926968	missense variant	-	NC_000008.11:g.60741819G>A	gnomAD
CHD7	Q9P2D1	p.Arg133Ser	rs1261424171	missense variant	-	NC_000008.11:g.60741831G>T	TOPMed
CHD7	Q9P2D1	p.Arg133Ser	RCV000719267	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60741831G>T	ClinVar
CHD7	Q9P2D1	p.His134Tyr	COSM1100773	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741832C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser137Ala	rs183761594	missense variant	-	NC_000008.11:g.60741841T>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser141Cys	rs905235341	missense variant	-	NC_000008.11:g.60741853A>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser141Gly	rs905235341	missense variant	-	NC_000008.11:g.60741853A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser141Asn	rs1194000842	missense variant	-	NC_000008.11:g.60741854G>A	gnomAD
CHD7	Q9P2D1	p.Ser142Thr	rs766134825	missense variant	-	NC_000008.11:g.60741857G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser143Ala	rs1464536379	missense variant	-	NC_000008.11:g.60741859T>G	gnomAD
CHD7	Q9P2D1	p.Ser143Cys	rs188533205	missense variant	-	NC_000008.11:g.60741860C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser143Phe	rs188533205	missense variant	-	NC_000008.11:g.60741860C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser143Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741860C>A	NCI-TCGA
CHD7	Q9P2D1	p.Met144Val	rs759429611	missense variant	-	NC_000008.11:g.60741862A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Trp145Ter	RCV000384888	nonsense	-	NC_000008.11:g.60741866G>A	ClinVar
CHD7	Q9P2D1	p.Trp145Ter	rs886041163	stop gained	-	NC_000008.11:g.60741866G>A	-
CHD7	Q9P2D1	p.Gly146Val	COSM6113625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60741869G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly146Ser	rs569689278	missense variant	-	NC_000008.11:g.60741868G>A	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Pro147Ser	rs536699844	missense variant	-	NC_000008.11:g.60741871C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro147Leu	rs1382370878	missense variant	-	NC_000008.11:g.60741872C>T	gnomAD
CHD7	Q9P2D1	p.Arg148Lys	rs756074454	missense variant	-	NC_000008.11:g.60741875G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala149Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741877G>T	NCI-TCGA
CHD7	Q9P2D1	p.Val150Ala	rs1349169485	missense variant	-	NC_000008.11:g.60741881T>C	gnomAD
CHD7	Q9P2D1	p.Pro153Leu	rs1009569570	missense variant	-	NC_000008.11:g.60741890C>T	TOPMed
CHD7	Q9P2D1	p.Pro153Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741890C>A	NCI-TCGA
CHD7	Q9P2D1	p.Asp154Gly	rs1216364151	missense variant	-	NC_000008.11:g.60741893A>G	gnomAD
CHD7	Q9P2D1	p.Arg157Ter	RCV000175883	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60741901C>T	ClinVar
CHD7	Q9P2D1	p.Arg157Ter	RCV000506348	nonsense	-	NC_000008.11:g.60741901C>T	ClinVar
CHD7	Q9P2D1	p.Arg157Gln	rs758402387	missense variant	-	NC_000008.11:g.60741902G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg157Ter	RCV000351604	nonsense	-	NC_000008.11:g.60741901C>T	ClinVar
CHD7	Q9P2D1	p.Arg157Ter	rs794727293	stop gained	-	NC_000008.11:g.60741901C>T	gnomAD
CHD7	Q9P2D1	p.Ala158Thr	rs780282927	missense variant	-	NC_000008.11:g.60741904G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro159Ala	rs1064794560	missense variant	-	NC_000008.11:g.60741907C>G	gnomAD
CHD7	Q9P2D1	p.Pro159Ser	rs1064794560	missense variant	-	NC_000008.11:g.60741907C>T	gnomAD
CHD7	Q9P2D1	p.Pro159Ala	RCV000486092	missense variant	-	NC_000008.11:g.60741907C>G	ClinVar
CHD7	Q9P2D1	p.Pro159Leu	rs1201043974	missense variant	-	NC_000008.11:g.60741908C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr160Ter	RCV000634428	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60741910del	ClinVar
CHD7	Q9P2D1	p.Gln161Lys	rs747213142	missense variant	-	NC_000008.11:g.60741913C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln161His	rs781619793	missense variant	-	NC_000008.11:g.60741915G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln161Arg	RCV000634427	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741914A>G	ClinVar
CHD7	Q9P2D1	p.Gln161Arg	rs755340969	missense variant	-	NC_000008.11:g.60741914A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln166Ter	rs886040978	stop gained	-	NC_000008.11:g.60741928C>T	-
CHD7	Q9P2D1	p.Gln166Ter	RCV000258077	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60741928C>T	ClinVar
CHD7	Q9P2D1	p.Pro167Arg	rs61742851	missense variant	-	NC_000008.11:g.60741932C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro167Leu	rs61742851	missense variant	-	NC_000008.11:g.60741932C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro167Leu	rs61742851	missense variant	-	NC_000008.11:g.60741932C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Pro167Leu	VAR_068378	missense variant	-	NC_000008.11:g.60741932C>T	UniProt
CHD7	Q9P2D1	p.Pro167Leu	RCV000277084	missense variant	-	NC_000008.11:g.60741932C>T	ClinVar
CHD7	Q9P2D1	p.Pro167Thr	RCV000730240	missense variant	-	NC_000008.11:g.60741931C>A	ClinVar
CHD7	Q9P2D1	p.Gln168Arg	rs921201693	missense variant	-	NC_000008.11:g.60741935A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro169Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60741937C>T	NCI-TCGA
CHD7	Q9P2D1	p.Pro170Leu	rs369545523	missense variant	-	NC_000008.11:g.60741941C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro170Gln	rs369545523	missense variant	-	NC_000008.11:g.60741941C>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln171Ter	RCV000760386	nonsense	-	NC_000008.11:g.60741943C>T	ClinVar
CHD7	Q9P2D1	p.Pro172Leu	rs199933688	missense variant	-	NC_000008.11:g.60741947C>T	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Pro172Ser	rs908277149	missense variant	-	NC_000008.11:g.60741946C>T	TOPMed
CHD7	Q9P2D1	p.Ala173Val	rs759229667	missense variant	-	NC_000008.11:g.60741950C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro174Leu	rs767279224	missense variant	-	NC_000008.11:g.60741953C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser175Leu	rs370305211	missense variant	-	NC_000008.11:g.60741956C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser175Leu	RCV000634429	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60741956C>T	ClinVar
CHD7	Q9P2D1	p.Gly176Arg	rs753733294	missense variant	-	NC_000008.11:g.60741958G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly176Arg	rs753733294	missense variant	-	NC_000008.11:g.60741958G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly176Ala	rs1366365769	missense variant	-	NC_000008.11:g.60741959G>C	gnomAD
CHD7	Q9P2D1	p.Pro177Ter	RCV000193887	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60741960dup	ClinVar
CHD7	Q9P2D1	p.Pro177Arg	rs541311313	missense variant	-	NC_000008.11:g.60741962C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro177Ser	rs1459060139	missense variant	-	NC_000008.11:g.60741961C>T	gnomAD
CHD7	Q9P2D1	p.Pro178Ala	rs766416900	missense variant	-	NC_000008.11:g.60741964C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro178LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60741957G>-	NCI-TCGA
CHD7	Q9P2D1	p.Ala179Thr	RCV000175893	missense variant	-	NC_000008.11:g.60741967G>A	ClinVar
CHD7	Q9P2D1	p.Ala179Thr	rs794727296	missense variant	-	NC_000008.11:g.60741967G>A	-
CHD7	Q9P2D1	p.Gln180Ter	RCV000755928	nonsense	-	NC_000008.11:g.60741970C>T	ClinVar
CHD7	Q9P2D1	p.Gly181Asp	rs1446754376	missense variant	-	NC_000008.11:g.60741974G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro183Arg	rs751847978	missense variant	-	NC_000008.11:g.60741980C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro183Leu	rs751847978	missense variant	-	NC_000008.11:g.60741980C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln184Ter	rs886039526	stop gained	-	NC_000008.11:g.60741982C>T	-
CHD7	Q9P2D1	p.Gln184Ter	RCV000255865	nonsense	-	NC_000008.11:g.60741982C>T	ClinVar
CHD7	Q9P2D1	p.His185Gln	rs553486438	missense variant	-	NC_000008.11:g.60741987C>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met186Val	rs1320149797	missense variant	-	NC_000008.11:g.60741988A>G	gnomAD
CHD7	Q9P2D1	p.Met186Val	RCV000717777	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60741988A>G	ClinVar
CHD7	Q9P2D1	p.Met186Thr	rs1469146074	missense variant	-	NC_000008.11:g.60741989T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser191Arg	rs778449732	missense variant	-	NC_000008.11:g.60742005C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Tyr192Cys	rs749792505	missense variant	-	NC_000008.11:g.60742007A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr192Cys	RCV000395610	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742007A>G	ClinVar
CHD7	Q9P2D1	p.Tyr192Cys	RCV000303651	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742007A>G	ClinVar
CHD7	Q9P2D1	p.Met193Val	rs542672517	missense variant	-	NC_000008.11:g.60742009A>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met193Thr	rs1158518461	missense variant	-	NC_000008.11:g.60742010T>C	gnomAD
CHD7	Q9P2D1	p.Ala194Thr	rs1480884503	missense variant	-	NC_000008.11:g.60742012G>A	gnomAD
CHD7	Q9P2D1	p.Arg195Cys	rs773990845	missense variant	-	NC_000008.11:g.60742015C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg195His	rs1250450695	missense variant	-	NC_000008.11:g.60742016G>A	TOPMed
CHD7	Q9P2D1	p.Gly196Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742018G>C	NCI-TCGA
CHD7	Q9P2D1	p.Ser199PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60742022_60742023insT	NCI-TCGA
CHD7	Q9P2D1	p.Met200Leu	rs1404201767	missense variant	-	NC_000008.11:g.60742030A>T	TOPMed
CHD7	Q9P2D1	p.Gln201Arg	rs764496155	missense variant	-	NC_000008.11:g.60742034A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln202Ter	rs1554581277	stop gained	-	NC_000008.11:g.60742036C>T	-
CHD7	Q9P2D1	p.Gln202Ter	RCV000553452	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742036C>T	ClinVar
CHD7	Q9P2D1	p.His203Arg	rs375277827	missense variant	-	NC_000008.11:g.60742040A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly204Ala	rs761518915	missense variant	-	NC_000008.11:g.60742043G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro206Thr	rs368047432	missense variant	-	NC_000008.11:g.60742048C>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro206Leu	rs1405698484	missense variant	-	NC_000008.11:g.60742049C>T	gnomAD
CHD7	Q9P2D1	p.Met210Val	rs776593094	missense variant	-	NC_000008.11:g.60742060A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Met210Ile	rs560742342	missense variant	-	NC_000008.11:g.60742062G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser211Arg	rs936848734	missense variant	-	NC_000008.11:g.60742063A>C	TOPMed
CHD7	Q9P2D1	p.Phe213Val	rs1443483036	missense variant	-	NC_000008.11:g.60742069T>G	gnomAD
CHD7	Q9P2D1	p.Gly219Asp	rs794727297	missense variant	-	NC_000008.11:g.60742088G>A	-
CHD7	Q9P2D1	p.Gly219Asp	RCV000175894	missense variant	-	NC_000008.11:g.60742088G>A	ClinVar
CHD7	Q9P2D1	p.Gln222Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742096C>G	NCI-TCGA
CHD7	Q9P2D1	p.Phe226Leu	rs1294102203	missense variant	-	NC_000008.11:g.60742108T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe226Leu	RCV000634420	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742108T>C	ClinVar
CHD7	Q9P2D1	p.Ile227Val	rs754950510	missense variant	-	NC_000008.11:g.60742111A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala228Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742115C>T	NCI-TCGA
CHD7	Q9P2D1	p.Thr229Pro	rs767816305	missense variant	-	NC_000008.11:g.60742117A>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr229Ala	rs767816305	missense variant	-	NC_000008.11:g.60742117A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly231Ala	rs892533813	missense variant	-	NC_000008.11:g.60742124G>C	TOPMed
CHD7	Q9P2D1	p.Pro232Ser	rs554647169	missense variant	-	NC_000008.11:g.60742126C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro232Thr	RCV000258106	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742126C>A	ClinVar
CHD7	Q9P2D1	p.Pro232Thr	rs554647169	missense variant	-	NC_000008.11:g.60742126C>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly233Asp	rs778249500	missense variant	-	NC_000008.11:g.60742130G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.His234Gln	rs565216093	missense variant	-	NC_000008.11:g.60742134C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser236Phe	COSM3650065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742139C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Val238Met	RCV000175888	missense variant	-	NC_000008.11:g.60742144G>A	ClinVar
CHD7	Q9P2D1	p.Val238Leu	rs200898742	missense variant	-	NC_000008.11:g.60742144G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val238Leu	rs200898742	missense variant	-	NC_000008.11:g.60742144G>C	UniProt,dbSNP
CHD7	Q9P2D1	p.Val238Leu	VAR_068379	missense variant	-	NC_000008.11:g.60742144G>C	UniProt
CHD7	Q9P2D1	p.Val238Met	rs200898742	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60742144G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Val238Met	VAR_068108	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60742144G>A	UniProt
CHD7	Q9P2D1	p.Val238Met	rs200898742	missense variant	-	NC_000008.11:g.60742144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro239Ser	rs199549857	missense variant	-	NC_000008.11:g.60742147C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln240Ter	RCV000696170	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742150del	ClinVar
CHD7	Q9P2D1	p.Gln241His	rs901153300	missense variant	-	NC_000008.11:g.60742155G>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln241Arg	rs1411075980	missense variant	-	NC_000008.11:g.60742154A>G	gnomAD
CHD7	Q9P2D1	p.Pro243His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742160C>A	NCI-TCGA
CHD7	Q9P2D1	p.Ser244Arg	rs779776551	missense variant	-	NC_000008.11:g.60742164C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met245Val	rs768507639	missense variant	-	NC_000008.11:g.60742165A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala246Pro	rs375325395	missense variant	-	NC_000008.11:g.60742168G>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala246Thr	rs375325395	missense variant	-	NC_000008.11:g.60742168G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro247Leu	rs749888914	missense variant	-	NC_000008.11:g.60742172C>T	gnomAD
CHD7	Q9P2D1	p.Pro247Arg	rs749888914	missense variant	-	NC_000008.11:g.60742172C>G	gnomAD
CHD7	Q9P2D1	p.Pro247Ser	rs769728012	missense variant	-	NC_000008.11:g.60742171C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg250Ser	rs368934543	missense variant	-	NC_000008.11:g.60742180C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg250His	rs767475667	missense variant	-	NC_000008.11:g.60742181G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg250Cys	rs368934543	missense variant	-	NC_000008.11:g.60742180C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.His251Asp	rs753006910	missense variant	-	NC_000008.11:g.60742183C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser252Leu	RCV000276271	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742187C>T	ClinVar
CHD7	Q9P2D1	p.Ser252Leu	rs371930390	missense variant	-	NC_000008.11:g.60742187C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser252Leu	RCV000315043	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742187C>T	ClinVar
CHD7	Q9P2D1	p.Val253Leu	rs1470802900	missense variant	-	NC_000008.11:g.60742189G>T	TOPMed
CHD7	Q9P2D1	p.Val253Gly	rs1380015897	missense variant	-	NC_000008.11:g.60742190T>G	TOPMed
CHD7	Q9P2D1	p.Gln254Ter	rs1554581354	stop gained	-	NC_000008.11:g.60742192C>T	-
CHD7	Q9P2D1	p.Gln254Ter	RCV000523004	nonsense	-	NC_000008.11:g.60742192C>T	ClinVar
CHD7	Q9P2D1	p.Gln254Glu	VAR_068380	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.His257Arg	rs757629380	missense variant	-	NC_000008.11:g.60742202A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.His257Tyr	rs1242246844	missense variant	-	NC_000008.11:g.60742201C>T	gnomAD
CHD7	Q9P2D1	p.His258Asn	rs1188910098	missense variant	-	NC_000008.11:g.60742204C>A	gnomAD
CHD7	Q9P2D1	p.Pro260Leu	COSM3900854	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742211C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro260Ser	rs766382878	missense variant	-	NC_000008.11:g.60742210C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser261Phe	rs750844697	missense variant	-	NC_000008.11:g.60742214C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser261Cys	rs750844697	missense variant	-	NC_000008.11:g.60742214C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr262Ala	rs1174730803	missense variant	-	NC_000008.11:g.60742216A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr262Pro	rs1174730803	missense variant	-	NC_000008.11:g.60742216A>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala263Val	rs1360274089	missense variant	-	NC_000008.11:g.60742220C>T	gnomAD
CHD7	Q9P2D1	p.Ala263ArgPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60742217_60742218insAAGAATGGAACGCTAGGAAGTGTAG	NCI-TCGA
CHD7	Q9P2D1	p.Ala263Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742219G>A	NCI-TCGA
CHD7	Q9P2D1	p.His265Arg	rs779427012	missense variant	-	NC_000008.11:g.60742226A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly266Glu	rs1345967515	missense variant	-	NC_000008.11:g.60742229G>A	gnomAD
CHD7	Q9P2D1	p.Glu267Gly	rs746735047	missense variant	-	NC_000008.11:g.60742232A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu267Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742231G>A	NCI-TCGA
CHD7	Q9P2D1	p.Ser268Phe	COSM1100779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742235C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Val269Ile	rs747972265	missense variant	-	NC_000008.11:g.60742237G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala270Thr	rs1308342012	missense variant	-	NC_000008.11:g.60742240G>A	gnomAD
CHD7	Q9P2D1	p.His271Asp	rs530158598	missense variant	-	NC_000008.11:g.60742243C>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Pro273Leu	rs762771594	missense variant	-	NC_000008.11:g.60742250C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro273Ser	rs1284559737	missense variant	-	NC_000008.11:g.60742249C>T	gnomAD
CHD7	Q9P2D1	p.Pro273Arg	rs762771594	missense variant	-	NC_000008.11:g.60742250C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg274Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742252A>G	NCI-TCGA
CHD7	Q9P2D1	p.Phe275Leu	COSM2719978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742257C>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro277Leu	rs772257683	missense variant	-	NC_000008.11:g.60742262C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro279Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742267C>T	NCI-TCGA
CHD7	Q9P2D1	p.Pro280Arg	RCV000242160	missense variant	-	NC_000008.11:g.60742271C>G	ClinVar
CHD7	Q9P2D1	p.Pro280Arg	rs760775347	missense variant	-	NC_000008.11:g.60742271C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala284Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742282G>A	NCI-TCGA
CHD7	Q9P2D1	p.Arg286Gly	rs61995713	missense variant	-	NC_000008.11:g.60742288A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg286Gly	VAR_068381	missense variant	-	NC_000008.11:g.60742288A>G	UniProt
CHD7	Q9P2D1	p.Arg286Gly	rs61995713	missense variant	-	NC_000008.11:g.60742288A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg286Gly	RCV000145705	missense variant	-	NC_000008.11:g.60742288A>G	ClinVar
CHD7	Q9P2D1	p.Pro287Leu	rs762290343	missense variant	-	NC_000008.11:g.60742292C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro287Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742291C>T	NCI-TCGA
CHD7	Q9P2D1	p.Pro287Gln	rs762290343	missense variant	-	NC_000008.11:g.60742292C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln288Lys	RCV000694516	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742294C>A	ClinVar
CHD7	Q9P2D1	p.Gln288Ter	rs1554581399	stop gained	-	NC_000008.11:g.60742294C>T	-
CHD7	Q9P2D1	p.Gln288Ter	RCV000659294	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742294C>T	ClinVar
CHD7	Q9P2D1	p.Leu290Arg	rs1324051057	missense variant	-	NC_000008.11:g.60742301T>G	gnomAD
CHD7	Q9P2D1	p.Asn291His	rs765674058	missense variant	-	NC_000008.11:g.60742303A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser294Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742313C>A	NCI-TCGA
CHD7	Q9P2D1	p.Arg295Gln	rs569799707	missense variant	-	NC_000008.11:g.60742316G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg295Trp	rs750978197	missense variant	-	NC_000008.11:g.60742315C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser296Gly	rs1444138516	missense variant	-	NC_000008.11:g.60742318A>G	gnomAD
CHD7	Q9P2D1	p.Thr298Ala	rs886063033	missense variant	-	NC_000008.11:g.60742324A>G	-
CHD7	Q9P2D1	p.Thr298Ala	RCV000275238	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742324A>G	ClinVar
CHD7	Q9P2D1	p.Thr298Ala	RCV000367545	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742324A>G	ClinVar
CHD7	Q9P2D1	p.Pro302Ser	rs376743531	missense variant	-	NC_000008.11:g.60742336C>T	ExAC,TOPMed
CHD7	Q9P2D1	p.Thr303Ala	rs747781367	missense variant	-	NC_000008.11:g.60742339A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile304Thr	rs537091457	missense variant	-	NC_000008.11:g.60742343T>C	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile304Val	rs1274555136	missense variant	-	NC_000008.11:g.60742342A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile304Thr	RCV000727319	missense variant	-	NC_000008.11:g.60742343T>C	ClinVar
CHD7	Q9P2D1	p.Asn306Ter	RCV000719435	frameshift	History of neurodevelopmental disorder	NC_000008.11:g.60742349_60742353del	ClinVar
CHD7	Q9P2D1	p.Gly308Glu	rs1197409311	missense variant	-	NC_000008.11:g.60742355G>A	gnomAD
CHD7	Q9P2D1	p.Gln309Ter	RCV000578198	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742357C>T	ClinVar
CHD7	Q9P2D1	p.Gln309Ter	rs1436515577	stop gained	-	NC_000008.11:g.60742357C>T	gnomAD
CHD7	Q9P2D1	p.Gln309Lys	rs1436515577	missense variant	-	NC_000008.11:g.60742357C>A	gnomAD
CHD7	Q9P2D1	p.Ser311Cys	rs1471607429	missense variant	-	NC_000008.11:g.60742364C>G	TOPMed
CHD7	Q9P2D1	p.Ser311Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742364C>T	NCI-TCGA
CHD7	Q9P2D1	p.Arg312Gln	rs955811265	missense variant	-	NC_000008.11:g.60742367G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg312Ter	rs886041166	stop gained	-	NC_000008.11:g.60742366C>T	-
CHD7	Q9P2D1	p.Arg312Ter	RCV000622927	nonsense	Inborn genetic diseases	NC_000008.11:g.60742366C>T	ClinVar
CHD7	Q9P2D1	p.Arg312Pro	rs955811265	missense variant	-	NC_000008.11:g.60742367G>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg312Leu	rs955811265	missense variant	-	NC_000008.11:g.60742367G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg312Ter	RCV000373668	nonsense	-	NC_000008.11:g.60742366C>T	ClinVar
CHD7	Q9P2D1	p.Tyr313Cys	rs1472626804	missense variant	-	NC_000008.11:g.60742370A>G	gnomAD
CHD7	Q9P2D1	p.Tyr313His	rs1468524008	missense variant	-	NC_000008.11:g.60742369T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro314Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742372C>G	NCI-TCGA
CHD7	Q9P2D1	p.Tyr315Cys	rs1487919186	missense variant	-	NC_000008.11:g.60742376A>G	TOPMed
CHD7	Q9P2D1	p.Ser316Ile	rs749302988	missense variant	-	NC_000008.11:g.60742379G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser316Gly	RCV000659107	missense variant	-	NC_000008.11:g.60742378A>G	ClinVar
CHD7	Q9P2D1	p.Ser316Gly	rs1010032031	missense variant	-	NC_000008.11:g.60742378A>G	-
CHD7	Q9P2D1	p.Asn317Lys	COSM422093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742383C>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gln320Glu	rs1393062776	missense variant	-	NC_000008.11:g.60742390C>G	gnomAD
CHD7	Q9P2D1	p.Gly321Ter	rs1064793994	stop gained	-	NC_000008.11:g.60742393G>T	TOPMed
CHD7	Q9P2D1	p.Gly321Arg	rs1064793994	missense variant	-	NC_000008.11:g.60742393G>A	TOPMed
CHD7	Q9P2D1	p.Gly321Ter	RCV000484055	nonsense	-	NC_000008.11:g.60742393_60742394delinsTA	ClinVar
CHD7	Q9P2D1	p.Gly321Ter	RCV000486665	nonsense	-	NC_000008.11:g.60742393G>T	ClinVar
CHD7	Q9P2D1	p.Gly321Ter	rs1064793996	stop gained	-	NC_000008.11:g.60742393_60742394delinsTA	-
CHD7	Q9P2D1	p.Asn324Lys	rs1329360838	missense variant	-	NC_000008.11:g.60742404C>A	gnomAD
CHD7	Q9P2D1	p.Asn324Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742403A>G	NCI-TCGA
CHD7	Q9P2D1	p.Asn325His	RCV000781294	missense variant	-	NC_000008.11:g.60742405A>C	ClinVar
CHD7	Q9P2D1	p.Met328Leu	rs747112804	missense variant	-	NC_000008.11:g.60742414A>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn329Ser	rs777040556	missense variant	-	NC_000008.11:g.60742418A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn329Tyr	rs768807046	missense variant	-	NC_000008.11:g.60742417A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn329Ser	RCV000258133	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742418A>G	ClinVar
CHD7	Q9P2D1	p.Gln330Glu	rs1053945677	missense variant	-	NC_000008.11:g.60742420C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu334Phe	rs762094119	missense variant	-	NC_000008.11:g.60742432C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr335Lys	rs1272000267	missense variant	-	NC_000008.11:g.60742436C>A	TOPMed
CHD7	Q9P2D1	p.Asn336Asp	RCV000258083	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742438A>G	ClinVar
CHD7	Q9P2D1	p.Asn336Asp	rs886040979	missense variant	-	NC_000008.11:g.60742438A>G	TOPMed
CHD7	Q9P2D1	p.Asn336Ser	rs1340427164	missense variant	-	NC_000008.11:g.60742439A>G	TOPMed
CHD7	Q9P2D1	p.Asn337Lys	rs765693143	missense variant	-	NC_000008.11:g.60742443T>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn337Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742442A>C	NCI-TCGA
CHD7	Q9P2D1	p.Pro339Ala	rs1274212298	missense variant	-	NC_000008.11:g.60742447C>G	gnomAD
CHD7	Q9P2D1	p.Met340Val	RCV000258102	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742450A>G	ClinVar
CHD7	Q9P2D1	p.Met340Val	rs41305525	missense variant	-	NC_000008.11:g.60742450A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Met340Val	VAR_048731	missense variant	-	NC_000008.11:g.60742450A>G	UniProt
CHD7	Q9P2D1	p.Met340Val	rs41305525	missense variant	-	NC_000008.11:g.60742450A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met340Val	RCV000081818	missense variant	-	NC_000008.11:g.60742450A>G	ClinVar
CHD7	Q9P2D1	p.Gln342Arg	rs763310622	missense variant	-	NC_000008.11:g.60742457A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser343Cys	rs754874152	missense variant	-	NC_000008.11:g.60742460C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Val344Ile	rs199919181	missense variant	-	NC_000008.11:g.60742462G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val344Ile	RCV000270140	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742462G>A	ClinVar
CHD7	Q9P2D1	p.Val344Ile	RCV000322922	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742462G>A	ClinVar
CHD7	Q9P2D1	p.Pro348Thr	rs747263275	missense variant	-	NC_000008.11:g.60742474C>A	gnomAD
CHD7	Q9P2D1	p.Asn349Ser	RCV000685335	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742478A>G	ClinVar
CHD7	Q9P2D1	p.Asn349Ser	rs200644351	missense variant	-	NC_000008.11:g.60742478A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn349Ser	RCV000515044	missense variant	-	NC_000008.11:g.60742478A>G	ClinVar
CHD7	Q9P2D1	p.Val351Ile	rs199953550	missense variant	-	NC_000008.11:g.60742483G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe353Ter	RCV000467254	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742490del	ClinVar
CHD7	Q9P2D1	p.Phe353Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742491C>G	NCI-TCGA
CHD7	Q9P2D1	p.Pro354Ser	COSM3650066	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742492C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro354Ala	rs878893652	missense variant	-	NC_000008.11:g.60742492C>G	gnomAD
CHD7	Q9P2D1	p.Pro354Ala	RCV000484850	missense variant	-	NC_000008.11:g.60742492C>G	ClinVar
CHD7	Q9P2D1	p.Pro354Ter	RCV000599588	frameshift	-	NC_000008.11:g.60742493del	ClinVar
CHD7	Q9P2D1	p.Ser355Pro	COSM751081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742495T>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly358Cys	rs745778752	missense variant	-	NC_000008.11:g.60742504G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly358Ter	RCV000258132	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742505del	ClinVar
CHD7	Q9P2D1	p.Gln359Glu	COSM3900856	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742507C>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly360Ala	rs768895123	missense variant	-	NC_000008.11:g.60742511G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Met362Thr	rs748181926	missense variant	-	NC_000008.11:g.60742517T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Met362Leu	rs776844402	missense variant	-	NC_000008.11:g.60742516A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.His363Pro	rs1259788628	missense variant	-	NC_000008.11:g.60742520A>C	gnomAD
CHD7	Q9P2D1	p.His363Tyr	rs1216135930	missense variant	-	NC_000008.11:g.60742519C>T	gnomAD
CHD7	Q9P2D1	p.Gln364Ter	rs727503860	stop gained	-	NC_000008.11:g.60742522C>T	-
CHD7	Q9P2D1	p.Gln364Ter	RCV000405637	nonsense	-	NC_000008.11:g.60742522C>T	ClinVar
CHD7	Q9P2D1	p.Gln364Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742523A>T	NCI-TCGA
CHD7	Q9P2D1	p.Gln365His	rs376900677	missense variant	-	NC_000008.11:g.60742527G>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro366Ser	COSM3900857	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742528C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ile367Thr	rs773444032	missense variant	-	NC_000008.11:g.60742532T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile367Val	rs1201445531	missense variant	-	NC_000008.11:g.60742531A>G	TOPMed
CHD7	Q9P2D1	p.Ile367Met	rs1282515563	missense variant	-	NC_000008.11:g.60742533C>G	gnomAD
CHD7	Q9P2D1	p.His368Pro	rs1490493822	missense variant	-	NC_000008.11:g.60742535A>C	TOPMed
CHD7	Q9P2D1	p.Pro369Ser	rs766747354	missense variant	-	NC_000008.11:g.60742537C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro369Ala	rs766747354	missense variant	-	NC_000008.11:g.60742537C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly371Val	rs1005909293	missense variant	-	NC_000008.11:g.60742544G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser372Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60742547C>A	NCI-TCGA
CHD7	Q9P2D1	p.Leu373Phe	rs371635934	missense variant	-	NC_000008.11:g.60742549C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln375Ter	rs1057520734	stop gained	-	NC_000008.11:g.60742555C>T	-
CHD7	Q9P2D1	p.Gln375Ter	RCV000441742	nonsense	-	NC_000008.11:g.60742555C>T	ClinVar
CHD7	Q9P2D1	p.Met376Val	rs1317332713	missense variant	-	NC_000008.11:g.60742558A>G	TOPMed
CHD7	Q9P2D1	p.Met376Thr	rs1276391948	missense variant	-	NC_000008.11:g.60742559T>C	TOPMed
CHD7	Q9P2D1	p.Gln379Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60742567C>T	NCI-TCGA
CHD7	Q9P2D1	p.Met381Val	rs144778638	missense variant	-	NC_000008.11:g.60742573A>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro383Ser	rs760161762	missense variant	-	NC_000008.11:g.60742579C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser384Leu	rs763681646	missense variant	-	NC_000008.11:g.60742583C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro386Ser	rs1349009827	missense variant	-	NC_000008.11:g.60742588C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln387Arg	rs753477347	missense variant	-	NC_000008.11:g.60742592A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln387His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742593G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly388Glu	rs757050240	missense variant	-	NC_000008.11:g.60742595G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr390Ter	rs554737227	stop gained	-	NC_000008.11:g.60742602T>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr390Ter	RCV000427644	nonsense	-	NC_000008.11:g.60742602T>G	ClinVar
CHD7	Q9P2D1	p.Ala391Gly	rs191435594	missense variant	-	NC_000008.11:g.60742604C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala391Val	rs191435594	missense variant	-	NC_000008.11:g.60742604C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser392Phe	rs373112189	missense variant	-	NC_000008.11:g.60742607C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro393Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742609C>G	NCI-TCGA
CHD7	Q9P2D1	p.Pro394Ser	rs182061582	missense variant	-	NC_000008.11:g.60742612C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro395Ala	rs1178042244	missense variant	-	NC_000008.11:g.60742615C>G	TOPMed
CHD7	Q9P2D1	p.Met396Ile	RCV000282872	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742620G>T	ClinVar
CHD7	Q9P2D1	p.Met396Ile	rs201653177	missense variant	-	NC_000008.11:g.60742620G>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met396Val	rs761942903	missense variant	-	NC_000008.11:g.60742618A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Met396Ile	rs201653177	missense variant	-	NC_000008.11:g.60742620G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met396Thr	rs749499911	missense variant	-	NC_000008.11:g.60742619T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro398Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742625C>T	NCI-TCGA
CHD7	Q9P2D1	p.Met399Val	rs1156609341	missense variant	-	NC_000008.11:g.60742627A>G	gnomAD
CHD7	Q9P2D1	p.Ala401Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742633G>A	NCI-TCGA
CHD7	Q9P2D1	p.Met402Val	rs772570235	missense variant	-	NC_000008.11:g.60742636A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met402Thr	rs775931738	missense variant	-	NC_000008.11:g.60742637T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro405Leu	COSM751079	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742646C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro405Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742645C>T	NCI-TCGA
CHD7	Q9P2D1	p.Ala406Val	rs1391622750	missense variant	-	NC_000008.11:g.60742649C>T	gnomAD
CHD7	Q9P2D1	p.Ala406GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60742648G>-	NCI-TCGA
CHD7	Q9P2D1	p.Thr408Ile	rs1233275297	missense variant	-	NC_000008.11:g.60742655C>T	TOPMed
CHD7	Q9P2D1	p.Thr408Pro	rs760121832	missense variant	-	NC_000008.11:g.60742654A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro409Ser	rs1554581580	missense variant	-	NC_000008.11:g.60742657C>T	-
CHD7	Q9P2D1	p.Pro409Ser	RCV000622791	missense variant	Inborn genetic diseases	NC_000008.11:g.60742657C>T	ClinVar
CHD7	Q9P2D1	p.Pro409Ter	RCV000175891	frameshift	-	NC_000008.11:g.60742656_60742666del	ClinVar
CHD7	Q9P2D1	p.Pro410Leu	rs1199435004	missense variant	-	NC_000008.11:g.60742661C>T	TOPMed
CHD7	Q9P2D1	p.Pro410Ser	rs763637398	missense variant	-	NC_000008.11:g.60742660C>T	ExAC
CHD7	Q9P2D1	p.Pro411Ser	rs1317536901	missense variant	-	NC_000008.11:g.60742663C>T	TOPMed
CHD7	Q9P2D1	p.Gln412His	rs753472856	missense variant	-	NC_000008.11:g.60742668A>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val413Gly	rs1021434443	missense variant	-	NC_000008.11:g.60742670T>G	TOPMed
CHD7	Q9P2D1	p.Arg414Lys	rs761520772	missense variant	-	NC_000008.11:g.60742673G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg414Ser	rs541292469	missense variant	-	NC_000008.11:g.60742674G>T	1000Genomes
CHD7	Q9P2D1	p.Pro415Ser	rs1313265725	missense variant	-	NC_000008.11:g.60742675C>T	TOPMed
CHD7	Q9P2D1	p.Pro415Leu	rs765180149	missense variant	-	NC_000008.11:g.60742676C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly416Arg	rs587783428	missense variant	-	NC_000008.11:g.60742678G>A	gnomAD
CHD7	Q9P2D1	p.Gly416Glu	rs1240008077	missense variant	-	NC_000008.11:g.60742679G>A	gnomAD
CHD7	Q9P2D1	p.Gly416Ter	rs587783428	stop gained	-	NC_000008.11:g.60742678G>T	gnomAD
CHD7	Q9P2D1	p.Gly416Ter	RCV000145652	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742678G>T	ClinVar
CHD7	Q9P2D1	p.Ile420Met	rs1332728138	missense variant	-	NC_000008.11:g.60742692A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile420Leu	rs1272682114	missense variant	-	NC_000008.11:g.60742690A>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro421Thr	rs758228667	missense variant	-	NC_000008.11:g.60742693C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met422Val	RCV000487421	missense variant	-	NC_000008.11:g.60742696A>G	ClinVar
CHD7	Q9P2D1	p.Met422Val	rs1064795809	missense variant	-	NC_000008.11:g.60742696A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu423Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60742699G>T	NCI-TCGA
CHD7	Q9P2D1	p.Val424Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742702G>T	NCI-TCGA
CHD7	Q9P2D1	p.Ser426Gly	rs751492707	missense variant	-	NC_000008.11:g.60742708A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser426Asn	rs1376601472	missense variant	-	NC_000008.11:g.60742709G>A	TOPMed
CHD7	Q9P2D1	p.Tyr427Ter	RCV000436386	nonsense	-	NC_000008.11:g.60742713T>A	ClinVar
CHD7	Q9P2D1	p.Tyr427Ter	rs373942842	stop gained	-	NC_000008.11:g.60742713T>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro428Leu	rs1166269859	missense variant	-	NC_000008.11:g.60742715C>T	gnomAD
CHD7	Q9P2D1	p.Pro428Ala	rs777909439	missense variant	-	NC_000008.11:g.60742714C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn429Asp	rs771200821	missense variant	-	NC_000008.11:g.60742717A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn429His	rs771200821	missense variant	-	NC_000008.11:g.60742717A>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met430Ile	rs779037108	missense variant	-	NC_000008.11:g.60742722G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.His432Arg	rs1408372207	missense variant	-	NC_000008.11:g.60742727A>G	TOPMed
CHD7	Q9P2D1	p.His432Ter	RCV000659295	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742726del	ClinVar
CHD7	Q9P2D1	p.Gln434Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60742732C>T	NCI-TCGA
CHD7	Q9P2D1	p.Pro435Ser	rs1395855672	missense variant	-	NC_000008.11:g.60742735C>T	gnomAD
CHD7	Q9P2D1	p.Pro435Leu	rs1001403179	missense variant	-	NC_000008.11:g.60742736C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.His437Arg	rs746261185	missense variant	-	NC_000008.11:g.60742742A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.His437Tyr	rs1461912534	missense variant	-	NC_000008.11:g.60742741C>T	gnomAD
CHD7	Q9P2D1	p.Gln438Ter	RCV000634421	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742744C>T	ClinVar
CHD7	Q9P2D1	p.Gln438Ter	rs1554581657	stop gained	-	NC_000008.11:g.60742744C>T	-
CHD7	Q9P2D1	p.Pro439Ala	rs772369092	missense variant	-	NC_000008.11:g.60742747C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro439Ser	rs772369092	missense variant	-	NC_000008.11:g.60742747C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro440Leu	rs1292944097	missense variant	-	NC_000008.11:g.60742751C>T	gnomAD
CHD7	Q9P2D1	p.Pro440Arg	rs1292944097	missense variant	-	NC_000008.11:g.60742751C>G	gnomAD
CHD7	Q9P2D1	p.Pro440Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742750C>A	NCI-TCGA
CHD7	Q9P2D1	p.Gly441Asp	rs1236622727	missense variant	-	NC_000008.11:g.60742754G>A	TOPMed
CHD7	Q9P2D1	p.Gly441Ser	rs1353746682	missense variant	-	NC_000008.11:g.60742753G>A	gnomAD
CHD7	Q9P2D1	p.Gly441Cys	rs1353746682	missense variant	-	NC_000008.11:g.60742753G>T	gnomAD
CHD7	Q9P2D1	p.Gly441Arg	rs1353746682	missense variant	-	NC_000008.11:g.60742753G>C	gnomAD
CHD7	Q9P2D1	p.Ala442Thr	rs368086966	missense variant	-	NC_000008.11:g.60742756G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met443Val	rs559364802	missense variant	-	NC_000008.11:g.60742759A>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Gly446Glu	rs772951698	missense variant	-	NC_000008.11:g.60742769G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly446Arg	rs765014704	missense variant	-	NC_000008.11:g.60742768G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg448Ter	RCV000578185	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742772_60742773AG[1]	ClinVar
CHD7	Q9P2D1	p.Asn449Ser	rs1208556547	missense variant	-	NC_000008.11:g.60742778A>G	TOPMed
CHD7	Q9P2D1	p.Met450Arg	rs762891322	missense variant	-	NC_000008.11:g.60742781T>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met450Thr	rs762891322	missense variant	-	NC_000008.11:g.60742781T>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly451Ser	rs1475943467	missense variant	-	NC_000008.11:g.60742783G>A	gnomAD
CHD7	Q9P2D1	p.Arg453Gly	rs1418145974	missense variant	-	NC_000008.11:g.60742789A>G	gnomAD
CHD7	Q9P2D1	p.Asn454Ser	rs766249962	missense variant	-	NC_000008.11:g.60742793A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met455Val	rs529934598	missense variant	-	NC_000008.11:g.60742795A>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Gln456Glu	rs548074036	missense variant	-	NC_000008.11:g.60742798C>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Gln456Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742799A>T	NCI-TCGA
CHD7	Q9P2D1	p.Gln457Ter	RCV000277238	nonsense	-	NC_000008.11:g.60742801C>T	ClinVar
CHD7	Q9P2D1	p.Gln457Ter	rs727503861	stop gained	-	NC_000008.11:g.60742801C>T	-
CHD7	Q9P2D1	p.Gln457Pro	rs1462838324	missense variant	-	NC_000008.11:g.60742802A>C	gnomAD
CHD7	Q9P2D1	p.Ser458Cys	rs767302034	missense variant	-	NC_000008.11:g.60742805C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg459Cys	rs753953205	missense variant	-	NC_000008.11:g.60742807C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg459His	rs563490827	missense variant	-	NC_000008.11:g.60742808G>A	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Pro460Thr	rs779125003	missense variant	-	NC_000008.11:g.60742810C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile462Val	rs758801802	missense variant	-	NC_000008.11:g.60742816A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Met464Leu	rs1316655280	missense variant	-	NC_000008.11:g.60742822A>T	TOPMed
CHD7	Q9P2D1	p.Met464Ile	rs780392912	missense variant	-	NC_000008.11:g.60742824G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser465Ala	rs932744993	missense variant	-	NC_000008.11:g.60742825T>G	TOPMed
CHD7	Q9P2D1	p.Ser465Tyr	COSM1314132	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742826C>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser466Leu	rs71640285	missense variant	-	NC_000008.11:g.60742829C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser466Leu	RCV000659296	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742829C>T	ClinVar
CHD7	Q9P2D1	p.Pro468Ser	rs1361160813	missense variant	-	NC_000008.11:g.60742834C>T	TOPMed
CHD7	Q9P2D1	p.Arg469Gly	rs868107005	missense variant	-	NC_000008.11:g.60742837A>G	gnomAD
CHD7	Q9P2D1	p.Glu470Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742840G>A	NCI-TCGA
CHD7	Q9P2D1	p.Leu471PhePheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60742842_60742843insT	NCI-TCGA
CHD7	Q9P2D1	p.Gly473Arg	rs747717847	missense variant	-	NC_000008.11:g.60742849G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Met475Leu	RCV000334305	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742855A>T	ClinVar
CHD7	Q9P2D1	p.Met475Leu	RCV000281577	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60742855A>T	ClinVar
CHD7	Q9P2D1	p.Met475Leu	rs773039925	missense variant	-	NC_000008.11:g.60742855A>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met475Thr	rs749781761	missense variant	-	NC_000008.11:g.60742856T>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met475Val	rs773039925	missense variant	-	NC_000008.11:g.60742855A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met475Val	RCV000736066	missense variant	-	NC_000008.11:g.60742855A>G	ClinVar
CHD7	Q9P2D1	p.Arg476Ser	rs766339850	missense variant	-	NC_000008.11:g.60742860G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro477Ser	rs774211699	missense variant	-	NC_000008.11:g.60742861C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn478Ser	rs1173477842	missense variant	-	NC_000008.11:g.60742865A>G	gnomAD
CHD7	Q9P2D1	p.Asn478Asp	rs375860192	missense variant	-	NC_000008.11:g.60742864A>G	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Gly479Asp	rs1255487219	missense variant	-	NC_000008.11:g.60742868G>A	TOPMed
CHD7	Q9P2D1	p.Gly482Asp	rs911422083	missense variant	-	NC_000008.11:g.60742877G>A	TOPMed
CHD7	Q9P2D1	p.Gly482Ser	rs767518147	missense variant	-	NC_000008.11:g.60742876G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly482Cys	rs767518147	missense variant	-	NC_000008.11:g.60742876G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly482Ala	rs911422083	missense variant	-	NC_000008.11:g.60742877G>C	TOPMed
CHD7	Q9P2D1	p.Val483Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742879G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly484Val	rs1446745630	missense variant	-	NC_000008.11:g.60742883G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly484Asp	rs1446745630	missense variant	-	NC_000008.11:g.60742883G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu485Pro	rs1313748646	missense variant	-	NC_000008.11:g.60742886T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly486Val	rs752526149	missense variant	-	NC_000008.11:g.60742889G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp487Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742893C>A	NCI-TCGA
CHD7	Q9P2D1	p.Pro488Arg	rs757372961	missense variant	-	NC_000008.11:g.60742895C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro488Leu	rs757372961	missense variant	-	NC_000008.11:g.60742895C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln489Ter	rs794727298	stop gained	-	NC_000008.11:g.60742897C>T	-
CHD7	Q9P2D1	p.Gln489Ter	RCV000254940	nonsense	-	NC_000008.11:g.60742897C>T	ClinVar
CHD7	Q9P2D1	p.Ile491Asn	rs1383452692	missense variant	-	NC_000008.11:g.60742904T>A	TOPMed
CHD7	Q9P2D1	p.Gln492Arg	rs1301038949	missense variant	-	NC_000008.11:g.60742907A>G	gnomAD
CHD7	Q9P2D1	p.Arg494Ter	rs587783429	stop gained	-	NC_000008.11:g.60742912C>T	-
CHD7	Q9P2D1	p.Arg494Gln	rs1024117364	missense variant	-	NC_000008.11:g.60742913G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg494Ter	RCV000413726	nonsense	-	NC_000008.11:g.60742912C>T	ClinVar
CHD7	Q9P2D1	p.Arg494Ter	RCV000145653	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742912C>T	ClinVar
CHD7	Q9P2D1	p.Pro497Thr	rs758605710	missense variant	-	NC_000008.11:g.60742921C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro497Ter	RCV000168287	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742920dup	ClinVar
CHD7	Q9P2D1	p.Gly498Asp	rs547298242	missense variant	-	NC_000008.11:g.60742925G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly498Ser	rs1417820240	missense variant	-	NC_000008.11:g.60742924G>A	TOPMed
CHD7	Q9P2D1	p.Gln500Arg	RCV000598100	missense variant	-	NC_000008.11:g.60742931A>G	ClinVar
CHD7	Q9P2D1	p.Gln500Arg	rs1465792260	missense variant	-	NC_000008.11:g.60742931A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.His501Arg	rs1251568366	missense variant	-	NC_000008.11:g.60742934A>G	gnomAD
CHD7	Q9P2D1	p.His501Tyr	rs969768020	missense variant	-	NC_000008.11:g.60742933C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.His501Gln	rs755250885	missense variant	-	NC_000008.11:g.60742935T>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro502Ter	RCV000199561	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60742937del	ClinVar
CHD7	Q9P2D1	p.Gly503Arg	rs1173461310	missense variant	-	NC_000008.11:g.60742939G>C	gnomAD
CHD7	Q9P2D1	p.Gln505Ter	RCV000626943	nonsense	-	NC_000008.11:g.60742945C>T	ClinVar
CHD7	Q9P2D1	p.Gln505Leu	rs1001211309	missense variant	-	NC_000008.11:g.60742946A>T	TOPMed
CHD7	Q9P2D1	p.Gln505Ter	rs1554581757	stop gained	-	NC_000008.11:g.60742945C>T	-
CHD7	Q9P2D1	p.Pro506Ala	rs758382008	missense variant	-	NC_000008.11:g.60742948C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser507Cys	rs1399171333	missense variant	-	NC_000008.11:g.60742952C>G	gnomAD
CHD7	Q9P2D1	p.Phe508Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742954T>G	NCI-TCGA
CHD7	Q9P2D1	p.Gln509Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60742958A>T	NCI-TCGA
CHD7	Q9P2D1	p.Leu511Ser	rs1161443702	missense variant	-	NC_000008.11:g.60742964T>C	gnomAD
CHD7	Q9P2D1	p.Leu511Val	VAR_069032	Missense	-	-	UniProt
CHD7	Q9P2D1	p.Pro512Ala	rs748635676	missense variant	-	NC_000008.11:g.60742966C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr513Ser	COSM3834873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742969A>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Thr513Ser	rs1323841522	missense variant	-	NC_000008.11:g.60742970C>G	gnomAD
CHD7	Q9P2D1	p.Thr513Ala	rs957224882	missense variant	-	NC_000008.11:g.60742969A>G	TOPMed
CHD7	Q9P2D1	p.Cys514Ser	rs748754045	missense variant	-	NC_000008.11:g.60742973G>C	ExAC
CHD7	Q9P2D1	p.Pro515Ala	rs1210884047	missense variant	-	NC_000008.11:g.60742975C>G	TOPMed
CHD7	Q9P2D1	p.Pro515Ser	COSM3650067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60742975C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gln518Ter	RCV000417049	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60742984C>T	ClinVar
CHD7	Q9P2D1	p.Gln518His	rs369284507	missense variant	-	NC_000008.11:g.60742986G>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln518Ter	rs1057519423	stop gained	-	NC_000008.11:g.60742984C>T	-
CHD7	Q9P2D1	p.Gln518His	rs369284507	missense variant	-	NC_000008.11:g.60742986G>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln518Arg	rs773831895	missense variant	-	NC_000008.11:g.60742985A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro519Leu	rs1333490432	missense variant	-	NC_000008.11:g.60742988C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro519His	rs1333490432	missense variant	-	NC_000008.11:g.60742988C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro519Ser	rs775535376	missense variant	-	NC_000008.11:g.60742987C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.His520Gln	rs1271840526	missense variant	-	NC_000008.11:g.60742992C>G	gnomAD
CHD7	Q9P2D1	p.His520Tyr	rs1211221117	missense variant	-	NC_000008.11:g.60742990C>T	gnomAD
CHD7	Q9P2D1	p.Pro521Leu	rs373211059	missense variant	-	NC_000008.11:g.60742994C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly522Val	rs142962579	missense variant	-	NC_000008.11:g.60742997G>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Gly522Val	VAR_068111	missense variant	-	NC_000008.11:g.60742997G>T	UniProt
CHD7	Q9P2D1	p.Gly522Val	rs142962579	missense variant	-	NC_000008.11:g.60742997G>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly522Val	RCV000229697	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60742997G>T	ClinVar
CHD7	Q9P2D1	p.His524Tyr	rs762953167	missense variant	-	NC_000008.11:g.60743002C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser527Ala	VAR_069033	Missense	-	-	UniProt
CHD7	Q9P2D1	p.Pro529Ser	rs1412919986	missense variant	-	NC_000008.11:g.60743017C>T	gnomAD
CHD7	Q9P2D1	p.Pro532Arg	rs1162813452	missense variant	-	NC_000008.11:g.60743027C>G	gnomAD
CHD7	Q9P2D1	p.His533Tyr	rs766647201	missense variant	-	NC_000008.11:g.60743029C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.His533Ter	RCV000659297	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60743029_60743030insT	ClinVar
CHD7	Q9P2D1	p.His533Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60743029C>A	NCI-TCGA
CHD7	Q9P2D1	p.His534Gln	rs1386056055	missense variant	-	NC_000008.11:g.60743034C>A	TOPMed
CHD7	Q9P2D1	p.His534Asn	rs1405883701	missense variant	-	NC_000008.11:g.60743032C>A	gnomAD
CHD7	Q9P2D1	p.Gln535Lys	rs751709941	missense variant	-	NC_000008.11:g.60743035C>A	ExAC
CHD7	Q9P2D1	p.Gln535Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60743035C>T	NCI-TCGA
CHD7	Q9P2D1	p.Ala538Val	rs1328000952	missense variant	-	NC_000008.11:g.60743045C>T	gnomAD
CHD7	Q9P2D1	p.His541Arg	rs1388338640	missense variant	-	NC_000008.11:g.60743054A>G	TOPMed
CHD7	Q9P2D1	p.Gln545Arg	rs753316501	missense variant	-	NC_000008.11:g.60743066A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro548Leu	rs778361949	missense variant	-	NC_000008.11:g.60743075C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro548Ser	rs756704356	missense variant	-	NC_000008.11:g.60743074C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Val553Leu	rs745476515	missense variant	-	NC_000008.11:g.60743089G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.His554Pro	rs1272788002	missense variant	-	NC_000008.11:g.60743093A>C	gnomAD
CHD7	Q9P2D1	p.Gln555Lys	rs200024753	missense variant	-	NC_000008.11:g.60743095C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln555Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60743095C>T	NCI-TCGA
CHD7	Q9P2D1	p.Ser557Phe	rs1169047370	missense variant	-	NC_000008.11:g.60781004C>T	gnomAD
CHD7	Q9P2D1	p.Pro558Ala	rs746837682	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60781006C>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Pro558Ala	VAR_068112	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60781006C>G	UniProt
CHD7	Q9P2D1	p.Pro558Ala	rs746837682	missense variant	-	NC_000008.11:g.60781006C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro558Leu	rs777480283	missense variant	-	NC_000008.11:g.60781007C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro558Gln	rs777480283	missense variant	-	NC_000008.11:g.60781007C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser559Leu	rs1402410171	missense variant	-	NC_000008.11:g.60781010C>T	gnomAD
CHD7	Q9P2D1	p.Glu560Lys	rs759596157	missense variant	-	NC_000008.11:g.60781012G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu560Ter	RCV000194479	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781012dup	ClinVar
CHD7	Q9P2D1	p.Pro561Thr	rs1231245538	missense variant	-	NC_000008.11:g.60781015C>A	gnomAD
CHD7	Q9P2D1	p.Pro561Leu	rs775810287	missense variant	-	NC_000008.11:g.60781016C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Phe562Leu	rs1344717812	missense variant	-	NC_000008.11:g.60781018T>C	TOPMed
CHD7	Q9P2D1	p.Leu563Val	COSM3900859	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781021C>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu564Asp	rs1232502101	missense variant	-	NC_000008.11:g.60781026G>T	gnomAD
CHD7	Q9P2D1	p.Pro566Gln	rs754461179	missense variant	-	NC_000008.11:g.60781031C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro566Ala	rs764518030	missense variant	-	NC_000008.11:g.60781030C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro568Thr	rs1356452967	missense variant	-	NC_000008.11:g.60781036C>A	TOPMed
CHD7	Q9P2D1	p.Pro568Leu	rs757689264	missense variant	-	NC_000008.11:g.60781037C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Met570Val	rs757885932	missense variant	-	NC_000008.11:g.60781042A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln572Arg	rs1468940013	missense variant	-	NC_000008.11:g.60781049A>G	gnomAD
CHD7	Q9P2D1	p.Gln572Ter	rs886039527	stop gained	-	NC_000008.11:g.60781048C>T	-
CHD7	Q9P2D1	p.Gln572Ter	RCV000255326	nonsense	-	NC_000008.11:g.60781048C>T	ClinVar
CHD7	Q9P2D1	p.Gln572His	rs1189095063	missense variant	-	NC_000008.11:g.60781050G>C	gnomAD
CHD7	Q9P2D1	p.Gly575Ala	rs373241103	missense variant	-	NC_000008.11:g.60781058G>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro576Leu	rs746633621	missense variant	-	NC_000008.11:g.60781061C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro576Leu	RCV000634440	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781061C>T	ClinVar
CHD7	Q9P2D1	p.Gln579His	rs747922099	missense variant	-	NC_000008.11:g.60781071G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln579Glu	rs780953224	missense variant	-	NC_000008.11:g.60781069C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln579Ter	RCV000542683	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60781069C>T	ClinVar
CHD7	Q9P2D1	p.Gln579Pro	rs1156366893	missense variant	-	NC_000008.11:g.60781070A>C	gnomAD
CHD7	Q9P2D1	p.Gln579Ter	rs780953224	stop gained	-	NC_000008.11:g.60781069C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp585Tyr	RCV000486414	missense variant	-	NC_000008.11:g.60781087G>T	ClinVar
CHD7	Q9P2D1	p.Asp585Tyr	rs1064794401	missense variant	-	NC_000008.11:g.60781087G>T	-
CHD7	Q9P2D1	p.Leu587Met	rs866602168	missense variant	-	NC_000008.11:g.60781093C>A	gnomAD
CHD7	Q9P2D1	p.Leu587Val	rs866602168	missense variant	-	NC_000008.11:g.60781093C>G	gnomAD
CHD7	Q9P2D1	p.Pro588Ser	COSM3650068	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781096C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser589Thr	rs1481429606	missense variant	-	NC_000008.11:g.60781099T>A	TOPMed
CHD7	Q9P2D1	p.Ile590Val	rs769625033	missense variant	-	NC_000008.11:g.60781102A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile590Thr	rs568525349	missense variant	-	NC_000008.11:g.60781103T>C	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Gln592His	rs745960818	missense variant	-	NC_000008.11:g.60781110G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro594Ser	rs958865612	missense variant	-	NC_000008.11:g.60781114C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln596Glu	rs772252115	missense variant	-	NC_000008.11:g.60781120C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln596Lys	VAR_068384	Missense	-	-	UniProt
CHD7	Q9P2D1	p.Lys597Asn	COSM260091	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781125G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Lys599Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60781131G>C	NCI-TCGA
CHD7	Q9P2D1	p.Lys600Glu	rs775890348	missense variant	-	NC_000008.11:g.60781132A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys601Arg	rs1467028739	missense variant	-	NC_000008.11:g.60781136A>G	gnomAD
CHD7	Q9P2D1	p.Lys601Ter	RCV000489678	frameshift	-	NC_000008.11:g.60781131del	ClinVar
CHD7	Q9P2D1	p.Lys601Glu	rs760971730	missense variant	-	NC_000008.11:g.60781135A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys602Ter	RCV000802920	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781137_60781140del	ClinVar
CHD7	Q9P2D1	p.Lys602Ter	RCV000627640	frameshift	-	NC_000008.11:g.60781137_60781140del	ClinVar
CHD7	Q9P2D1	p.Asn603Ter	RCV000623092	frameshift	Inborn genetic diseases	NC_000008.11:g.60781142dup	ClinVar
CHD7	Q9P2D1	p.Asn603Ser	COSM1457694	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781142A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn603Lys	rs1195342247	missense variant	-	NC_000008.11:g.60781143C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn604Lys	rs764607908	missense variant	-	NC_000008.11:g.60781146C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn604Lys	RCV000258150	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781146C>A	ClinVar
CHD7	Q9P2D1	p.Asn604LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60781143_60781144insA	NCI-TCGA
CHD7	Q9P2D1	p.His605Asp	rs534225918	missense variant	-	NC_000008.11:g.60781147C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile606Phe	rs1179187323	missense variant	-	NC_000008.11:g.60781150A>T	gnomAD
CHD7	Q9P2D1	p.Val607Ile	rs762168448	missense variant	-	NC_000008.11:g.60781153G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala608Val	rs1163512247	missense variant	-	NC_000008.11:g.60781157C>T	gnomAD
CHD7	Q9P2D1	p.Ala608Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60781156G>A	NCI-TCGA
CHD7	Q9P2D1	p.Glu609Val	rs765693773	missense variant	-	NC_000008.11:g.60781160A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp610Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60781162G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly614Cys	rs1295700805	missense variant	-	NC_000008.11:g.60781174G>T	gnomAD
CHD7	Q9P2D1	p.Phe615Ser	rs879211256	missense variant	-	NC_000008.11:g.60781178T>C	gnomAD
CHD7	Q9P2D1	p.Gly616Ser	rs1391139960	missense variant	-	NC_000008.11:g.60781180G>A	gnomAD
CHD7	Q9P2D1	p.Lys617Asn	rs201456469	missense variant	-	NC_000008.11:g.60781185A>C	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys617Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60781183A>G	NCI-TCGA
CHD7	Q9P2D1	p.Asp619Ala	rs1375813352	missense variant	-	NC_000008.11:g.60781190A>C	TOPMed
CHD7	Q9P2D1	p.Pro621Ser	rs1352495187	missense variant	-	NC_000008.11:g.60781195C>T	gnomAD
CHD7	Q9P2D1	p.Pro621Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60781196C>T	NCI-TCGA
CHD7	Q9P2D1	p.Pro621His	rs1229088933	missense variant	-	NC_000008.11:g.60781196C>A	gnomAD
CHD7	Q9P2D1	p.Gly622Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60781198G>A	NCI-TCGA
CHD7	Q9P2D1	p.Gly623Arg	rs375905260	missense variant	-	NC_000008.11:g.60781201G>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly623Arg	rs375905260	missense variant	-	NC_000008.11:g.60781201G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val624Ile	rs765870281	missense variant	-	NC_000008.11:g.60781204G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp625His	rs953329305	missense variant	-	NC_000008.11:g.60781207G>C	TOPMed
CHD7	Q9P2D1	p.Asn626Lys	COSM4913354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781212C>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu628Ter	COSM260093	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60781216G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn630His	rs1193813174	missense variant	-	NC_000008.11:g.60781222A>C	gnomAD
CHD7	Q9P2D1	p.Arg631Lys	rs1186672452	missense variant	-	NC_000008.11:g.60781226G>A	gnomAD
CHD7	Q9P2D1	p.Arg631Gly	rs780759134	missense variant	-	NC_000008.11:g.60781225A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn632Ser	rs1167562186	missense variant	-	NC_000008.11:g.60781229A>G	gnomAD
CHD7	Q9P2D1	p.Asn632Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60781230C>A	NCI-TCGA
CHD7	Q9P2D1	p.Ser633Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60781229_60781230insTTGAAATTAGTTT	NCI-TCGA
CHD7	Q9P2D1	p.Asp635Val	rs752468864	missense variant	-	NC_000008.11:g.60781238A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp635Gly	rs752468864	missense variant	-	NC_000008.11:g.60781238A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly636Val	rs529321177	missense variant	-	NC_000008.11:g.60781241G>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Gly636Val	VAR_068113	missense variant	-	NC_000008.11:g.60781241G>T	UniProt
CHD7	Q9P2D1	p.Gly636Val	rs529321177	missense variant	-	NC_000008.11:g.60781241G>T	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Lys641Glu	rs1335682527	missense variant	-	NC_000008.11:g.60781255A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys642Gln	rs1312406319	missense variant	-	NC_000008.11:g.60781258A>C	gnomAD
CHD7	Q9P2D1	p.Lys642Ter	RCV000634422	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781259del	ClinVar
CHD7	Q9P2D1	p.Lys645GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60781260_60781261insA	NCI-TCGA
CHD7	Q9P2D1	p.Arg646Lys	rs772341596	missense variant	-	NC_000008.11:g.60781271G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser647Ala	rs1313381352	missense variant	-	NC_000008.11:g.60781273T>G	gnomAD
CHD7	Q9P2D1	p.Lys648Glu	rs1203697128	missense variant	-	NC_000008.11:g.60781276A>G	TOPMed
CHD7	Q9P2D1	p.Lys648Asn	rs1306794432	missense variant	-	NC_000008.11:g.60781278G>C	gnomAD
CHD7	Q9P2D1	p.Lys648Asn	rs1306794432	missense variant	-	NC_000008.11:g.60781278G>T	gnomAD
CHD7	Q9P2D1	p.Lys651Ter	RCV000696619	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781286_60781289del	ClinVar
CHD7	Q9P2D1	p.Asp652Glu	rs1276509961	missense variant	-	NC_000008.11:g.60781290C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp652ThrPheSerTerUnkUnk	COSM1457696	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60781281A>-	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro653Arg	rs200536932	missense variant	-	NC_000008.11:g.60781292C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro653Ser	rs1483205730	missense variant	-	NC_000008.11:g.60781291C>T	gnomAD
CHD7	Q9P2D1	p.Pro653Leu	rs200536932	missense variant	-	NC_000008.11:g.60781292C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys654Asn	COSM751073	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60781296G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro656Arg	rs776871277	missense variant	-	NC_000008.11:g.60781301C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro656Ser	rs769003426	missense variant	-	NC_000008.11:g.60781300C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro656Leu	rs776871277	missense variant	-	NC_000008.11:g.60781301C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro659His	rs1392393644	missense variant	-	NC_000008.11:g.60781310C>A	gnomAD
CHD7	Q9P2D1	p.Pro659Thr	rs1168851284	missense variant	-	NC_000008.11:g.60781309C>A	gnomAD
CHD7	Q9P2D1	p.Pro665Arg	rs1203308111	missense variant	-	NC_000008.11:g.60781328C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys666Arg	rs1373820202	missense variant	-	NC_000008.11:g.60781331A>G	gnomAD
CHD7	Q9P2D1	p.Lys666Glu	rs1173281816	missense variant	-	NC_000008.11:g.60781330A>G	gnomAD
CHD7	Q9P2D1	p.Pro668Leu	rs1450317272	missense variant	-	NC_000008.11:g.60781337C>T	gnomAD
CHD7	Q9P2D1	p.Pro668Thr	rs1453381994	missense variant	-	NC_000008.11:g.60781336C>A	TOPMed
CHD7	Q9P2D1	p.Thr670Asn	rs1254432275	missense variant	-	NC_000008.11:g.60781343C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro671Leu	rs370588681	missense variant	-	NC_000008.11:g.60781346C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro671Arg	rs370588681	missense variant	-	NC_000008.11:g.60781346C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro671Leu	RCV000717452	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60781346C>T	ClinVar
CHD7	Q9P2D1	p.Ala673Val	rs1380432730	missense variant	-	NC_000008.11:g.60781352C>T	gnomAD
CHD7	Q9P2D1	p.Pro674Arg	rs1299595596	missense variant	-	NC_000008.11:g.60781355C>G	gnomAD
CHD7	Q9P2D1	p.Lys675Arg	rs763438086	missense variant	-	NC_000008.11:g.60781358A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro677Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60781363C>T	NCI-TCGA
CHD7	Q9P2D1	p.Lys681Glu	rs766815913	missense variant	-	NC_000008.11:g.60781375A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala685Ter	RCV000481976	frameshift	-	NC_000008.11:g.60781386del	ClinVar
CHD7	Q9P2D1	p.Ala685Glu	rs1210290882	missense variant	-	NC_000008.11:g.60781388C>A	gnomAD
CHD7	Q9P2D1	p.Ala685insAlaLys	VAR_072955	inframe_insertion	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
CHD7	Q9P2D1	p.Lys686Gln	rs751076918	missense variant	-	NC_000008.11:g.60781390A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala688Thr	rs1187193827	missense variant	-	NC_000008.11:g.60781396G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala688Val	rs759010289	missense variant	-	NC_000008.11:g.60781397C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala688Thr	RCV000634418	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781396G>A	ClinVar
CHD7	Q9P2D1	p.Thr689Met	RCV000324330	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781400C>T	ClinVar
CHD7	Q9P2D1	p.Thr689Met	RCV000376666	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60781400C>T	ClinVar
CHD7	Q9P2D1	p.Thr689Met	rs373706363	missense variant	-	NC_000008.11:g.60781400C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro690Gln	rs1423334732	missense variant	-	NC_000008.11:g.60781403C>A	gnomAD
CHD7	Q9P2D1	p.Lys691Gln	rs755898600	missense variant	-	NC_000008.11:g.60781405A>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys691Glu	rs755898600	missense variant	-	NC_000008.11:g.60781405A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser694Phe	rs1176956456	missense variant	-	NC_000008.11:g.60781415C>T	gnomAD
CHD7	Q9P2D1	p.Ser695Gly	rs1173537400	missense variant	-	NC_000008.11:g.60781417A>G	gnomAD
CHD7	Q9P2D1	p.Lys696GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60781418_60781419insTGAGTTCCTATTTAGTTCTTGGTTATCTA	NCI-TCGA
CHD7	Q9P2D1	p.Lys696Ter	rs1554588769	stop gained	-	NC_000008.11:g.60781420A>T	-
CHD7	Q9P2D1	p.Lys696Ter	RCV000520570	nonsense	-	NC_000008.11:g.60781420A>T	ClinVar
CHD7	Q9P2D1	p.Lys697Ter	RCV000699166	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60781424del	ClinVar
CHD7	Q9P2D1	p.Lys697SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60781420A>-	NCI-TCGA
CHD7	Q9P2D1	p.Ser699Asn	RCV000679948	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60781430G>A	ClinVar
CHD7	Q9P2D1	p.Ser699Arg	rs767027265	missense variant	-	NC_000008.11:g.60794986T>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser699Thr	VAR_068114	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Ser699Gly	VAR_068385	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Asn700His	rs370267935	missense variant	-	NC_000008.11:g.60794987A>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn700Asp	rs370267935	missense variant	-	NC_000008.11:g.60794987A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys702Asn	rs760357948	missense variant	-	NC_000008.11:g.60794995A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro703Thr	rs1278614167	missense variant	-	NC_000008.11:g.60794996C>A	gnomAD
CHD7	Q9P2D1	p.Ser705Ter	rs1554591598	stop gained	-	NC_000008.11:g.60795003C>G	-
CHD7	Q9P2D1	p.Ser705Ter	RCV000578850	nonsense	-	NC_000008.11:g.60795003C>G	ClinVar
CHD7	Q9P2D1	p.Ser708Asn	rs753687437	missense variant	-	NC_000008.11:g.60795012G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu710Trp	rs1299554779	missense variant	-	NC_000008.11:g.60795018T>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys712Gln	rs765286478	missense variant	-	NC_000008.11:g.60795023A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys713Thr	COSM751069	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60795027A>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Lys713Gln	rs1464837255	missense variant	-	NC_000008.11:g.60795026A>C	TOPMed
CHD7	Q9P2D1	p.Lys713Arg	rs1309474078	missense variant	-	NC_000008.11:g.60795027A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Val714Ala	rs934674388	missense variant	-	NC_000008.11:g.60795030T>C	TOPMed
CHD7	Q9P2D1	p.Val714GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60795022_60795023insA	NCI-TCGA
CHD7	Q9P2D1	p.Asn715Lys	rs1213594457	missense variant	-	NC_000008.11:g.60795034C>G	gnomAD
CHD7	Q9P2D1	p.Lys716Ile	RCV000704862	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60795036_60795037delinsTT	ClinVar
CHD7	Q9P2D1	p.Lys716Met	rs777635988	missense variant	-	NC_000008.11:g.60795036A>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys716Thr	rs777635988	missense variant	-	NC_000008.11:g.60795036A>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys716Asn	rs746819160	missense variant	-	NC_000008.11:g.60795037G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly717Arg	rs1320629987	missense variant	-	NC_000008.11:g.60795038G>A	TOPMed
CHD7	Q9P2D1	p.Thr719Ile	rs201666551	missense variant	-	NC_000008.11:g.60795045C>T	1000Genomes
CHD7	Q9P2D1	p.Glu720Ter	rs200729180	stop gained	-	NC_000008.11:g.60795047G>T	1000Genomes
CHD7	Q9P2D1	p.Glu720Asp	rs1434280843	missense variant	-	NC_000008.11:g.60795049A>C	TOPMed
CHD7	Q9P2D1	p.Gly721Asp	rs1222692405	missense variant	-	NC_000008.11:g.60795051G>A	gnomAD
CHD7	Q9P2D1	p.Asn724Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60795061T>A	NCI-TCGA
CHD7	Q9P2D1	p.Asp726Tyr	rs748119797	missense variant	-	NC_000008.11:g.60795065G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp728Asn	rs756365280	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60795071G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Asp728Asn	VAR_068115	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60795071G>A	UniProt
CHD7	Q9P2D1	p.Asp728Asn	rs756365280	missense variant	-	NC_000008.11:g.60795071G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp728Glu	rs771267153	missense variant	-	NC_000008.11:g.60795073C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp728His	rs756365280	missense variant	-	NC_000008.11:g.60795071G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp728Ter	RCV000598712	frameshift	-	NC_000008.11:g.60795067_60795068insCTAA	ClinVar
CHD7	Q9P2D1	p.Asp728Gly	rs749679283	missense variant	-	NC_000008.11:g.60795072A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys729Glu	rs41272437	missense variant	-	NC_000008.11:g.60795074A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr730Ile	rs552946889	missense variant	-	NC_000008.11:g.60795078C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr730Ile	RCV000336301	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60795078C>T	ClinVar
CHD7	Q9P2D1	p.Thr730Ile	RCV000388532	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60795078C>T	ClinVar
CHD7	Q9P2D1	p.Pro731Leu	rs1064794416	missense variant	-	NC_000008.11:g.60795081C>T	-
CHD7	Q9P2D1	p.Pro731Thr	rs1368393338	missense variant	-	NC_000008.11:g.60795080C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro731Leu	RCV000481972	missense variant	-	NC_000008.11:g.60795081C>T	ClinVar
CHD7	Q9P2D1	p.Pro732Ala	rs200277422	missense variant	-	NC_000008.11:g.60795083C>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro732Ala	RCV000081824	missense variant	-	NC_000008.11:g.60795083C>G	ClinVar
CHD7	Q9P2D1	p.Pro733Thr	rs943215762	missense variant	-	NC_000008.11:g.60795086C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro733Ala	rs943215762	missense variant	-	NC_000008.11:g.60795086C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser734Pro	rs760034081	missense variant	-	NC_000008.11:g.60795089T>C	ExAC
CHD7	Q9P2D1	p.Pro736Ala	rs1230871319	missense variant	-	NC_000008.11:g.60795095C>G	gnomAD
CHD7	Q9P2D1	p.Pro737Leu	rs899004166	missense variant	-	NC_000008.11:g.60795099C>T	TOPMed
CHD7	Q9P2D1	p.Glu738Lys	rs375850262	missense variant	-	NC_000008.11:g.60795101G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu738Asp	rs1297718208	missense variant	-	NC_000008.11:g.60795103A>C	TOPMed
CHD7	Q9P2D1	p.Glu739Ter	rs886040981	stop gained	-	NC_000008.11:g.60795104G>T	-
CHD7	Q9P2D1	p.Glu739Ter	RCV000258090	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60795104G>T	ClinVar
CHD7	Q9P2D1	p.Asp740Asn	rs776372236	missense variant	-	NC_000008.11:g.60795107G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp740Asn	RCV000248701	missense variant	-	NC_000008.11:g.60795107G>A	ClinVar
CHD7	Q9P2D1	p.Asp740Val	rs761748737	missense variant	-	NC_000008.11:g.60795108A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu741Lys	COSM4833953	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60795110G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp742Asn	rs750444222	missense variant	-	NC_000008.11:g.60795113G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly744Ter	RCV000703134	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60795118_60795119insCC	ClinVar
CHD7	Q9P2D1	p.Gly744Ser	rs141947938	missense variant	-	NC_000008.11:g.60795119G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Gly744Ser	VAR_068116	missense variant	-	NC_000008.11:g.60795119G>A	UniProt
CHD7	Q9P2D1	p.Gly744Ser	rs141947938	missense variant	-	NC_000008.11:g.60795119G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly744Ser	RCV000145657	missense variant	-	NC_000008.11:g.60795119G>A	ClinVar
CHD7	Q9P2D1	p.Arg749Gln	rs942764555	missense variant	-	NC_000008.11:g.60800395G>A	TOPMed
CHD7	Q9P2D1	p.Arg749Trp	rs1320501538	missense variant	-	NC_000008.11:g.60800394C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg749Gly	rs1320501538	missense variant	-	NC_000008.11:g.60800394C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser751Arg	rs754112540	missense variant	-	NC_000008.11:g.60800402C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Val754Leu	rs1340154642	missense variant	-	NC_000008.11:g.60800409G>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg756Gly	rs757479555	missense variant	-	NC_000008.11:g.60800415A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys757Arg	rs1231314681	missense variant	-	NC_000008.11:g.60800419A>G	gnomAD
CHD7	Q9P2D1	p.Arg758His	RCV000497870	missense variant	-	NC_000008.11:g.60800422G>A	ClinVar
CHD7	Q9P2D1	p.Arg758His	rs202208393	missense variant	-	NC_000008.11:g.60800422G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr759Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60800425A>G	NCI-TCGA
CHD7	Q9P2D1	p.Tyr759Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60800425A>T	NCI-TCGA
CHD7	Q9P2D1	p.Thr760Ala	rs1237122943	missense variant	-	NC_000008.11:g.60800427A>G	TOPMed
CHD7	Q9P2D1	p.Thr760Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60800428C>T	NCI-TCGA
CHD7	Q9P2D1	p.Asp762Glu	rs1208117759	missense variant	-	NC_000008.11:g.60800435C>G	gnomAD
CHD7	Q9P2D1	p.Asp762His	rs750827803	missense variant	-	NC_000008.11:g.60800433G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu763Val	rs758639665	missense variant	-	NC_000008.11:g.60800436C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu764Val	rs780658343	missense variant	-	NC_000008.11:g.60800440A>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe765Leu	rs200006916	missense variant	-	NC_000008.11:g.60800444C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe765Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60800442T>C	NCI-TCGA
CHD7	Q9P2D1	p.Lys766Asn	rs1292493076	missense variant	-	NC_000008.11:g.60800447G>T	gnomAD
CHD7	Q9P2D1	p.Ile767Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60800449T>G	NCI-TCGA
CHD7	Q9P2D1	p.Asp769Gly	rs780863604	missense variant	-	NC_000008.11:g.60800455A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu771Asp	rs1200586392	missense variant	-	NC_000008.11:g.60800462G>C	gnomAD
CHD7	Q9P2D1	p.Ala772Gly	rs1377795325	missense variant	-	NC_000008.11:g.60800464C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala772Val	rs1377795325	missense variant	-	NC_000008.11:g.60800464C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala777Val	rs1469195833	missense variant	-	NC_000008.11:g.60800479C>T	gnomAD
CHD7	Q9P2D1	p.Ala777Thr	COSM1100788	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60800478G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ala778Val	rs747595218	missense variant	-	NC_000008.11:g.60800482C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala778Gly	rs747595218	missense variant	-	NC_000008.11:g.60800482C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly779Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60800485G>T	NCI-TCGA
CHD7	Q9P2D1	p.Arg780Gly	rs769602856	missense variant	-	NC_000008.11:g.60800487A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser782Phe	COSM3925440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60800494C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro783Ser	rs373873996	missense variant	-	NC_000008.11:g.60800496C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro783Arg	rs762857682	missense variant	-	NC_000008.11:g.60800497C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro783Leu	rs762857682	missense variant	-	NC_000008.11:g.60800497C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser784Phe	rs1385417835	missense variant	-	NC_000008.11:g.60800500C>T	gnomAD
CHD7	Q9P2D1	p.Asn785His	rs1219165917	missense variant	-	NC_000008.11:g.60800502A>C	gnomAD
CHD7	Q9P2D1	p.Thr786Ile	RCV000719569	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60800506C>T	ClinVar
CHD7	Q9P2D1	p.Ser787Phe	rs1331824961	missense variant	-	NC_000008.11:g.60800509C>T	gnomAD
CHD7	Q9P2D1	p.Ser787Phe	RCV000634425	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60800509C>T	ClinVar
CHD7	Q9P2D1	p.Ser789Leu	rs1243599618	missense variant	-	NC_000008.11:g.60800515C>T	gnomAD
CHD7	Q9P2D1	p.Gln791His	rs1191540205	missense variant	-	NC_000008.11:g.60800522G>T	TOPMed
CHD7	Q9P2D1	p.Gln792Arg	rs1441258013	missense variant	-	NC_000008.11:g.60800524A>G	TOPMed
CHD7	Q9P2D1	p.Ser794Phe	rs1180700295	missense variant	-	NC_000008.11:g.60801532C>T	gnomAD
CHD7	Q9P2D1	p.Ser794Phe	RCV000623491	missense variant	Inborn genetic diseases	NC_000008.11:g.60801532C>T	ClinVar
CHD7	Q9P2D1	p.Ser794Ter	RCV000482114	nonsense	-	NC_000008.11:g.60801534_60801535del	ClinVar
CHD7	Q9P2D1	p.Val795Leu	rs1256146332	missense variant	-	NC_000008.11:g.60801534G>C	gnomAD
CHD7	Q9P2D1	p.Glu798Asp	rs928444236	missense variant	-	NC_000008.11:g.60801545A>C	gnomAD
CHD7	Q9P2D1	p.Glu798Gly	rs770814182	missense variant	-	NC_000008.11:g.60801544A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly799Val	rs1167408520	missense variant	-	NC_000008.11:g.60801547G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro800Ser	rs774034274	missense variant	-	NC_000008.11:g.60801549C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro800Leu	rs1168472463	missense variant	-	NC_000008.11:g.60801550C>T	TOPMed
CHD7	Q9P2D1	p.Val802Ile	rs759312001	missense variant	-	NC_000008.11:g.60801555G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile805Met	rs772031683	missense variant	-	NC_000008.11:g.60801566T>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile805AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60801558_60801559insA	NCI-TCGA
CHD7	Q9P2D1	p.Ile805Ter	RCV000598762	frameshift	-	NC_000008.11:g.60801564dup	ClinVar
CHD7	Q9P2D1	p.Met806Ile	rs1376962526	missense variant	-	NC_000008.11:g.60801569G>C	gnomAD
CHD7	Q9P2D1	p.Met806Val	rs775361057	missense variant	-	NC_000008.11:g.60801567A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser808Ile	rs761931418	missense variant	-	NC_000008.11:g.60801574G>T	ExAC
CHD7	Q9P2D1	p.Arg809His	rs1313215076	missense variant	-	NC_000008.11:g.60801577G>A	gnomAD
CHD7	Q9P2D1	p.Arg809Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60801576C>T	NCI-TCGA
CHD7	Q9P2D1	p.Ser810Pro	rs1364233058	missense variant	-	NC_000008.11:g.60801579T>C	gnomAD
CHD7	Q9P2D1	p.Lys812Asn	RCV000634446	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60801587A>T	ClinVar
CHD7	Q9P2D1	p.Lys812Asn	rs61978638	missense variant	-	NC_000008.11:g.60801587A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln814Ter	RCV000578196	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60801591C>T	ClinVar
CHD7	Q9P2D1	p.Gln814Ter	rs1554593049	stop gained	-	NC_000008.11:g.60801591C>T	-
CHD7	Q9P2D1	p.Lys815Arg	rs775448936	missense variant	-	NC_000008.11:g.60808218A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly818Ter	RCV000697516	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60808226_60808236del	ClinVar
CHD7	Q9P2D1	p.Glu822Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60808238G>T	NCI-TCGA
CHD7	Q9P2D1	p.Phe826Leu	COSM1100791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60808252C>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Tyr827Cys	rs769974585	missense variant	-	NC_000008.11:g.60808254A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys831Arg	rs763047924	missense variant	-	NC_000008.11:g.60808266A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn832Lys	rs1455553468	missense variant	-	NC_000008.11:g.60808270C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn832Ser	rs766532060	missense variant	-	NC_000008.11:g.60808269A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser834Phe	rs121434344	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60816389C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Ser834Phe	VAR_054624	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60816389C>T	UniProt
CHD7	Q9P2D1	p.Ser834Phe	rs121434344	missense variant	-	NC_000008.11:g.60816389C>T	-
CHD7	Q9P2D1	p.Ser834Phe	RCV000030798	missense variant	Hypogonadotropic hypogonadism 5 without anosmia	NC_000008.11:g.60816389C>T	ClinVar
CHD7	Q9P2D1	p.Ser834Phe	RCV000002111	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60816389C>T	ClinVar
CHD7	Q9P2D1	p.Tyr835Ter	RCV000414627	frameshift	-	NC_000008.11:g.60816392_60816396del	ClinVar
CHD7	Q9P2D1	p.Tyr835Ter	RCV000258116	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60816392_60816396del	ClinVar
CHD7	Q9P2D1	p.Tyr835His	rs776581956	missense variant	-	NC_000008.11:g.60816391T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Tyr835SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60816388_60816392TCTTA>-	NCI-TCGA
CHD7	Q9P2D1	p.Leu836Phe	rs771010455	missense variant	-	NC_000008.11:g.60816394C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.His837Arg	rs774777897	missense variant	-	NC_000008.11:g.60816398A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.His837Ter	RCV000193650	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60816390_60816397dup	ClinVar
CHD7	Q9P2D1	p.Trp840CysPro	RCV000719611	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60816408_60816409delinsTC	ClinVar
CHD7	Q9P2D1	p.Trp840Cys	VAR_068387	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Ala841Val	rs968010685	missense variant	-	NC_000008.11:g.60816410C>T	-
CHD7	Q9P2D1	p.Ala841Thr	rs759815314	missense variant	-	NC_000008.11:g.60816409G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser842Pro	rs1223536535	missense variant	-	NC_000008.11:g.60816412T>C	gnomAD
CHD7	Q9P2D1	p.Ser842Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60816413C>A	NCI-TCGA
CHD7	Q9P2D1	p.Ser842Phe	rs1317586038	missense variant	-	NC_000008.11:g.60816413C>T	TOPMed
CHD7	Q9P2D1	p.Ile843Val	rs772358323	missense variant	-	NC_000008.11:g.60816415A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp845Glu	rs1227105110	missense variant	-	NC_000008.11:g.60816423T>A	TOPMed
CHD7	Q9P2D1	p.Asp849Tyr	rs775998353	missense variant	-	NC_000008.11:g.60816433G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp849Asn	rs775998353	missense variant	-	NC_000008.11:g.60816433G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg851Ile	COSM1100797	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60816440G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ile856Val	rs764535247	missense variant	-	NC_000008.11:g.60816454A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys857Ter	RCV000464453	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60816456del	ClinVar
CHD7	Q9P2D1	p.Arg858Ter	RCV000824845	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60816460C>T	ClinVar
CHD7	Q9P2D1	p.Arg858Gln	COSM1201008	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60816461G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg858Ter	RCV000760306	nonsense	-	NC_000008.11:g.60816460C>T	ClinVar
CHD7	Q9P2D1	p.Phe859Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60816463T>C	NCI-TCGA
CHD7	Q9P2D1	p.Ala861GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60816468G>-	NCI-TCGA
CHD7	Q9P2D1	p.Gln863Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60816475C>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly864Ser	rs754351809	missense variant	-	NC_000008.11:g.60816478G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly864Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60816478G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gln865His	rs761272139	missense variant	-	NC_000008.11:g.60816483G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn866Ser	rs764801121	missense variant	-	NC_000008.11:g.60816485A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys867Arg	rs750135347	missense variant	-	NC_000008.11:g.60816488A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu869Pro	rs1368260442	missense variant	-	NC_000008.11:g.60816494T>C	gnomAD
CHD7	Q9P2D1	p.Ser870Ter	rs1328948189	stop gained	-	NC_000008.11:g.60816497C>A	gnomAD
CHD7	Q9P2D1	p.del870GluIleCysArgIleTerLeuUnk	rs1431113290	stop gained	-	NC_000008.11:g.60816495_60816496insGAAATATGTAGAATATAATTAA	gnomAD
CHD7	Q9P2D1	p.Glu871Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60816500A>G	NCI-TCGA
CHD7	Q9P2D1	p.Glu871Asp	VAR_068117	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Ile872Thr	rs751181139	missense variant	-	NC_000008.11:g.60820008T>C	ExAC,TOPMed
CHD7	Q9P2D1	p.Glu873Ter	rs1280658399	stop gained	-	NC_000008.11:g.60820010G>T	gnomAD
CHD7	Q9P2D1	p.Glu873Val	rs1461712750	missense variant	-	NC_000008.11:g.60820011A>T	gnomAD
CHD7	Q9P2D1	p.Glu873Ala	rs1461712750	missense variant	-	NC_000008.11:g.60820011A>C	gnomAD
CHD7	Q9P2D1	p.Glu875Gln	rs1245925250	missense variant	-	NC_000008.11:g.60820016G>C	gnomAD
CHD7	Q9P2D1	p.Leu876Ile	rs368156500	missense variant	-	NC_000008.11:g.60820019C>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu876Phe	rs368156500	missense variant	-	NC_000008.11:g.60820019C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp880Val	rs756078419	missense variant	-	NC_000008.11:g.60820032A>T	ExAC
CHD7	Q9P2D1	p.Asp880Asn	rs1476757532	missense variant	-	NC_000008.11:g.60820031G>A	gnomAD
CHD7	Q9P2D1	p.Tyr881Ter	rs797045465	stop gained	-	NC_000008.11:g.60820035dup	-
CHD7	Q9P2D1	p.Tyr881Ter	rs587783433	stop gained	-	NC_000008.11:g.60820036T>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr881Ter	RCV000145659	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60820036T>G	ClinVar
CHD7	Q9P2D1	p.Tyr881Ter	RCV000192729	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60820035dup	ClinVar
CHD7	Q9P2D1	p.Glu883Lys	rs1432155111	missense variant	-	NC_000008.11:g.60820040G>A	gnomAD
CHD7	Q9P2D1	p.Val884Phe	rs186499367	missense variant	-	NC_000008.11:g.60820043G>T	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Arg886Trp	rs772260091	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60820049C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg886Trp	VAR_072957	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60820049C>T	UniProt
CHD7	Q9P2D1	p.Arg886Trp	rs772260091	missense variant	-	NC_000008.11:g.60820049C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg886Gln	rs1384228127	missense variant	-	NC_000008.11:g.60820050G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Met888Leu	COSM486561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60820055A>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Met888Val	rs372474695	missense variant	-	NC_000008.11:g.60820055A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp889Asn	rs1330677850	missense variant	-	NC_000008.11:g.60820058G>A	gnomAD
CHD7	Q9P2D1	p.Phe890Tyr	rs747252853	missense variant	-	NC_000008.11:g.60820062T>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg892His	rs200188105	missense variant	-	NC_000008.11:g.60820068G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg892Cys	rs768961973	missense variant	-	NC_000008.11:g.60820067C>T	ExAC,TOPMed
CHD7	Q9P2D1	p.Ser893Ile	rs1445210885	missense variant	-	NC_000008.11:g.60820071G>T	TOPMed
CHD7	Q9P2D1	p.Ser893Gly	rs916713081	missense variant	-	NC_000008.11:g.60820070A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr894Ala	rs377662366	missense variant	-	NC_000008.11:g.60820073A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr894Pro	rs377662366	missense variant	-	NC_000008.11:g.60820073A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr894Ala	RCV000717448	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60820073A>G	ClinVar
CHD7	Q9P2D1	p.Thr894Ala	RCV000180656	missense variant	-	NC_000008.11:g.60820073A>G	ClinVar
CHD7	Q9P2D1	p.Arg897Trp	rs371742009	missense variant	-	NC_000008.11:g.60820082C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg897Gln	rs773685788	missense variant	-	NC_000008.11:g.60820083G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro900Ser	rs1224277360	missense variant	-	NC_000008.11:g.60821790C>T	gnomAD
CHD7	Q9P2D1	p.Pro900Arg	rs755233517	missense variant	-	NC_000008.11:g.60821791C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val901Met	rs1482444554	missense variant	-	NC_000008.11:g.60821793G>A	gnomAD
CHD7	Q9P2D1	p.Thr902Ile	rs1179313698	missense variant	-	NC_000008.11:g.60821797C>T	gnomAD
CHD7	Q9P2D1	p.His903Asp	rs1250318873	missense variant	-	NC_000008.11:g.60821799C>G	gnomAD
CHD7	Q9P2D1	p.Tyr904Cys	rs1421390142	missense variant	-	NC_000008.11:g.60821803A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr904His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60821802T>C	NCI-TCGA
CHD7	Q9P2D1	p.Lys907Thr	VAR_068119	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Trp908Arg	rs1554597380	missense variant	-	NC_000008.11:g.60821814T>C	-
CHD7	Q9P2D1	p.Trp908Arg	RCV000500185	missense variant	-	NC_000008.11:g.60821814T>C	ClinVar
CHD7	Q9P2D1	p.Leu911Phe	rs886039881	missense variant	-	NC_000008.11:g.60821823C>T	-
CHD7	Q9P2D1	p.Leu911Phe	RCV000256374	missense variant	Kallmann syndrome 5 (KAL5)	NC_000008.11:g.60821823C>T	ClinVar
CHD7	Q9P2D1	p.Tyr913Cys	rs781232623	missense variant	-	NC_000008.11:g.60821830A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu914Gly	rs1225464515	missense variant	-	NC_000008.11:g.60821833A>G	TOPMed
CHD7	Q9P2D1	p.Asp915Asn	rs1314044137	missense variant	-	NC_000008.11:g.60821835G>A	TOPMed
CHD7	Q9P2D1	p.Ser916Ile	rs376048082	missense variant	-	NC_000008.11:g.60821839G>T	ESP
CHD7	Q9P2D1	p.Thr917Met	rs1165711448	missense variant	-	NC_000008.11:g.60821842C>T	gnomAD
CHD7	Q9P2D1	p.Thr917Met	rs1165711448	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60821842C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Thr917Met	VAR_068120	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60821842C>T	UniProt
CHD7	Q9P2D1	p.Glu919Gly	rs373038882	missense variant	-	NC_000008.11:g.60821848A>G	ESP,ExAC,TOPMed
CHD7	Q9P2D1	p.Arg920Trp	rs773773546	missense variant	-	NC_000008.11:g.60821850C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg920Gln	rs1014640333	missense variant	-	NC_000008.11:g.60821851G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp925Glu	rs749781431	missense variant	-	NC_000008.11:g.60821867T>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile929Met	rs771367272	missense variant	-	NC_000008.11:g.60821879C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu930Lys	rs377330239	missense variant	-	NC_000008.11:g.60821880G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu930Lys	RCV000242433	missense variant	-	NC_000008.11:g.60821880G>A	ClinVar
CHD7	Q9P2D1	p.Lys934Thr	rs767217637	missense variant	-	NC_000008.11:g.60821893A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu935Val	rs370304926	missense variant	-	NC_000008.11:g.60821895C>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met936Thr	rs1341000443	missense variant	-	NC_000008.11:g.60821899T>C	gnomAD
CHD7	Q9P2D1	p.Met936Ile	rs1202493308	missense variant	-	NC_000008.11:g.60821900G>A	gnomAD
CHD7	Q9P2D1	p.Ser937Phe	rs775000989	missense variant	-	NC_000008.11:g.60821902C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser937Pro	rs1252519475	missense variant	-	NC_000008.11:g.60821901T>C	gnomAD
CHD7	Q9P2D1	p.Ser937Cys	rs775000989	missense variant	-	NC_000008.11:g.60821902C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg938Thr	rs763978472	missense variant	-	NC_000008.11:g.60821905G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg938Lys	rs763978472	missense variant	-	NC_000008.11:g.60821905G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu939Ter	RCV000145660	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60821907G>T	ClinVar
CHD7	Q9P2D1	p.Glu939Ter	rs587783434	stop gained	-	NC_000008.11:g.60821907G>T	-
CHD7	Q9P2D1	p.Pro940Leu	rs753887911	missense variant	-	NC_000008.11:g.60821911C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr942Ala	rs370194460	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60821916A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Thr942Ala	VAR_068388	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60821916A>G	UniProt
CHD7	Q9P2D1	p.Thr942Ala	rs370194460	missense variant	-	NC_000008.11:g.60821916A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr942Ala	RCV000320097	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60821916A>G	ClinVar
CHD7	Q9P2D1	p.Thr942Ala	RCV000356183	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60821916A>G	ClinVar
CHD7	Q9P2D1	p.Thr942Arg	rs1386173343	missense variant	-	NC_000008.11:g.60821917C>G	gnomAD
CHD7	Q9P2D1	p.Glu943Lys	rs751691380	missense variant	-	NC_000008.11:g.60821919G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg944Cys	rs587783435	missense variant	-	NC_000008.11:g.60821922C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg944His	RCV000231264	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60821923G>A	ClinVar
CHD7	Q9P2D1	p.Arg944Ser	rs587783435	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60821922C>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg944Ser	VAR_072958	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60821922C>A	UniProt
CHD7	Q9P2D1	p.Arg944Ser	rs587783435	missense variant	-	NC_000008.11:g.60821922C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg944His	rs117506164	missense variant	-	NC_000008.11:g.60821923G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg944His	RCV000278975	missense variant	-	NC_000008.11:g.60821923G>A	ClinVar
CHD7	Q9P2D1	p.Arg944Cys	RCV000588241	missense variant	-	NC_000008.11:g.60821922C>T	ClinVar
CHD7	Q9P2D1	p.Arg944Ser	RCV000145661	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60821922C>A	ClinVar
CHD7	Q9P2D1	p.Val945Met	rs997439700	missense variant	-	NC_000008.11:g.60821925G>A	TOPMed
CHD7	Q9P2D1	p.Glu946Gln	rs1298523170	missense variant	-	NC_000008.11:g.60822024G>C	gnomAD
CHD7	Q9P2D1	p.Arg947Gln	rs768481542	missense variant	-	NC_000008.11:g.60822028G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg947Gln	rs768481542	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60822028G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg947Gln	VAR_068123	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60822028G>A	UniProt
CHD7	Q9P2D1	p.Arg947Gln	RCV000766018	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822028G>A	ClinVar
CHD7	Q9P2D1	p.Arg947Ter	rs200220845	stop gained	-	NC_000008.11:g.60822027C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg947Ter	RCV000385062	nonsense	-	NC_000008.11:g.60822027C>T	ClinVar
CHD7	Q9P2D1	p.Arg947Gln	RCV000716250	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60822028G>A	ClinVar
CHD7	Q9P2D1	p.Arg947Ter	RCV000763186	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60822027C>T	ClinVar
CHD7	Q9P2D1	p.Arg947Gln	RCV000634441	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822028G>A	ClinVar
CHD7	Q9P2D1	p.Pro949Ser	rs779447181	missense variant	-	NC_000008.11:g.60822033C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala950Ser	rs563272521	missense variant	-	NC_000008.11:g.60822036G>T	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Ala950Thr	rs563272521	missense variant	-	NC_000008.11:g.60822036G>A	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Ala950Ter	RCV000328408	frameshift	-	NC_000008.11:g.60822036del	ClinVar
CHD7	Q9P2D1	p.Asp951Gly	rs768456277	missense variant	-	NC_000008.11:g.60822040A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp952Asn	COSM6181212	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822042G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Trp953Ter	RCV000578246	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60822046G>A	ClinVar
CHD7	Q9P2D1	p.Trp953Ter	rs1554597465	stop gained	-	NC_000008.11:g.60822046G>A	-
CHD7	Q9P2D1	p.Trp953Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60822047G>T	NCI-TCGA
CHD7	Q9P2D1	p.Ser956Ter	rs367557471	stop gained	-	NC_000008.11:g.60822055C>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser956Ter	RCV000626944	nonsense	Atrial septal defect (ASD)	NC_000008.11:g.60822055C>A	ClinVar
CHD7	Q9P2D1	p.Ser956Leu	rs367557471	missense variant	-	NC_000008.11:g.60822055C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser958Arg	rs773259542	missense variant	-	NC_000008.11:g.60822062T>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser958Asn	rs1266832444	missense variant	-	NC_000008.11:g.60822061G>A	gnomAD
CHD7	Q9P2D1	p.Arg960Ser	rs1554597489	missense variant	-	NC_000008.11:g.60822068G>T	-
CHD7	Q9P2D1	p.Arg960Lys	rs1177102112	missense variant	-	NC_000008.11:g.60822067G>A	gnomAD
CHD7	Q9P2D1	p.Arg960Ser	RCV000526578	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822068G>T	ClinVar
CHD7	Q9P2D1	p.Lys963Glu	rs1411072403	missense variant	-	NC_000008.11:g.60822075A>G	gnomAD
CHD7	Q9P2D1	p.Asn964His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60822078A>C	NCI-TCGA
CHD7	Q9P2D1	p.Asn966Ser	rs530869262	missense variant	-	NC_000008.11:g.60822085A>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Lys967Ile	rs1345463010	missense variant	-	NC_000008.11:g.60822088A>T	gnomAD
CHD7	Q9P2D1	p.Arg969Gly	RCV000634416	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822093A>G	ClinVar
CHD7	Q9P2D1	p.Arg969Gly	rs1554597501	missense variant	-	NC_000008.11:g.60822093A>G	-
CHD7	Q9P2D1	p.Arg969Ter	RCV000443611	frameshift	-	NC_000008.11:g.60822093_60822094del	ClinVar
CHD7	Q9P2D1	p.Arg969Ter	RCV000145662	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60822093_60822094del	ClinVar
CHD7	Q9P2D1	p.Glu970Ter	RCV000677125	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60822098_60822113del	ClinVar
CHD7	Q9P2D1	p.Gln972Arg	RCV000578177	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822103A>G	ClinVar
CHD7	Q9P2D1	p.Gln972Arg	rs1554597512	missense variant	-	NC_000008.11:g.60822103A>G	-
CHD7	Q9P2D1	p.Glu974Asp	COSM6181211	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822110G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly975Arg	VAR_068389	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Val976Ile	rs1225459063	missense variant	-	NC_000008.11:g.60822114G>A	gnomAD
CHD7	Q9P2D1	p.Val976Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60822115T>C	NCI-TCGA
CHD7	Q9P2D1	p.Trp978Ter	rs727503863	stop gained	-	NC_000008.11:g.60822121G>A	-
CHD7	Q9P2D1	p.Trp978Ter	RCV000153009	nonsense	-	NC_000008.11:g.60822121G>A	ClinVar
CHD7	Q9P2D1	p.Asn982Ser	RCV000356353	missense variant	-	NC_000008.11:g.60822133A>G	ClinVar
CHD7	Q9P2D1	p.Asn982His	rs1247457816	missense variant	-	NC_000008.11:g.60822132A>C	TOPMed
CHD7	Q9P2D1	p.Asn982Ser	rs886044146	missense variant	-	NC_000008.11:g.60822133A>G	TOPMed
CHD7	Q9P2D1	p.Tyr984Cys	rs760694653	missense variant	-	NC_000008.11:g.60822139A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn985Asp	rs1412484224	missense variant	-	NC_000008.11:g.60822141A>G	TOPMed
CHD7	Q9P2D1	p.Met986Val	rs764345519	missense variant	-	NC_000008.11:g.60822144A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg987Gln	rs767390470	missense variant	-	NC_000008.11:g.60822505G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg987Ter	RCV000413330	nonsense	-	NC_000008.11:g.60822504C>T	ClinVar
CHD7	Q9P2D1	p.Arg987Ter	RCV000258148	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60822504C>T	ClinVar
CHD7	Q9P2D1	p.Arg987Ter	rs886040983	stop gained	-	NC_000008.11:g.60822504C>T	-
CHD7	Q9P2D1	p.Arg987Gln	RCV000395485	missense variant	-	NC_000008.11:g.60822505G>A	ClinVar
CHD7	Q9P2D1	p.Arg987HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60822503_60822510GCGAAACT>-	NCI-TCGA
CHD7	Q9P2D1	p.Asn988Asp	rs1441839846	missense variant	-	NC_000008.11:g.60822507A>G	TOPMed
CHD7	Q9P2D1	p.Ile990Val	rs774245379	missense variant	-	NC_000008.11:g.60822513A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp993Tyr	RCV000412894	missense variant	-	NC_000008.11:g.60822522G>T	ClinVar
CHD7	Q9P2D1	p.Asp993Tyr	rs1057518227	missense variant	-	NC_000008.11:g.60822522G>T	-
CHD7	Q9P2D1	p.Glu994Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60822525G>A	NCI-TCGA
CHD7	Q9P2D1	p.Gly996Ser	RCV000539027	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822531G>A	ClinVar
CHD7	Q9P2D1	p.Gly996Ser	rs1554597672	missense variant	-	NC_000008.11:g.60822531G>A	-
CHD7	Q9P2D1	p.Gly996Asp	rs760780464	missense variant	-	NC_000008.11:g.60822532G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu997Ter	RCV000626339	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60822535del	ClinVar
CHD7	Q9P2D1	p.Thr1000Ala	rs1352965615	missense variant	-	NC_000008.11:g.60822543A>G	TOPMed
CHD7	Q9P2D1	p.Ile1001Val	rs375374626	missense variant	-	NC_000008.11:g.60822546A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1002Leu	rs1223377243	missense variant	-	NC_000008.11:g.60822550A>T	gnomAD
CHD7	Q9P2D1	p.Thr1005Arg	COSM6113622	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822559C>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Thr1005Ala	rs1273985911	missense variant	-	NC_000008.11:g.60822558A>G	gnomAD
CHD7	Q9P2D1	p.Leu1007Phe	COSM751067	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822564C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Tyr1008Cys	rs776900495	missense variant	-	NC_000008.11:g.60822568A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu1009Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60822572G>T	NCI-TCGA
CHD7	Q9P2D1	p.Ile1010Met	RCV000634426	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822575A>G	ClinVar
CHD7	Q9P2D1	p.Ile1010Met	rs1206578296	missense variant	-	NC_000008.11:g.60822575A>G	gnomAD
CHD7	Q9P2D1	p.Tyr1011His	rs560026909	missense variant	-	NC_000008.11:g.60822576T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Tyr1011Phe	rs765436594	missense variant	-	NC_000008.11:g.60822577A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly1014Glu	COSM1314136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822586G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ile1015Thr	rs1374888110	missense variant	-	NC_000008.11:g.60822589T>C	TOPMed
CHD7	Q9P2D1	p.Ile1015Val	rs1415116812	missense variant	-	NC_000008.11:g.60822588A>G	TOPMed
CHD7	Q9P2D1	p.His1016Arg	rs750785243	missense variant	-	NC_000008.11:g.60822592A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.His1016Leu	rs750785243	missense variant	-	NC_000008.11:g.60822592A>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro1018Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60822598C>T	NCI-TCGA
CHD7	Q9P2D1	p.Leu1020Ser	RCV000445135	missense variant	-	NC_000008.11:g.60822604T>C	ClinVar
CHD7	Q9P2D1	p.Leu1020Ter	COSM5157710	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60822599T>-	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu1020Ser	rs1057521077	missense variant	-	NC_000008.11:g.60822604T>C	-
CHD7	Q9P2D1	p.Leu1020PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60822598_60822599insT	NCI-TCGA
CHD7	Q9P2D1	p.Ile1022Val	rs767043440	missense variant	-	NC_000008.11:g.60822609A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile1022Val	RCV000554343	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822609A>G	ClinVar
CHD7	Q9P2D1	p.Leu1025Ter	RCV000258098	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60822616dup	ClinVar
CHD7	Q9P2D1	p.Ile1028Val	RCV000002100	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822627A>G	ClinVar
CHD7	Q9P2D1	p.Ile1028Val	RCV000763598	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822627A>G	ClinVar
CHD7	Q9P2D1	p.Ile1028Val	rs121434338	missense variant	-	NC_000008.11:g.60822627A>G	-
CHD7	Q9P2D1	p.Ile1028Val	rs121434338	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60822627A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Ile1028Val	VAR_021059	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60822627A>G	UniProt
CHD7	Q9P2D1	p.Ile1028Val	RCV000081828	missense variant	-	NC_000008.11:g.60822627A>G	ClinVar
CHD7	Q9P2D1	p.Pro1029Leu	COSM6181210	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822631C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn1030Thr	rs886041167	missense variant	-	NC_000008.11:g.60822634A>C	-
CHD7	Q9P2D1	p.Asn1030Lys	rs1331458838	missense variant	-	NC_000008.11:g.60822635C>A	gnomAD
CHD7	Q9P2D1	p.Asn1030Ser	rs886041167	missense variant	-	NC_000008.11:g.60822634A>G	-
CHD7	Q9P2D1	p.Asn1030Thr	RCV000659298	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822634A>C	ClinVar
CHD7	Q9P2D1	p.Asn1030Ser	RCV000390246	missense variant	-	NC_000008.11:g.60822634A>G	ClinVar
CHD7	Q9P2D1	p.Trp1031Cys	rs1060503187	missense variant	-	NC_000008.11:g.60822638G>C	-
CHD7	Q9P2D1	p.Trp1031Cys	RCV000464132	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60822638G>C	ClinVar
CHD7	Q9P2D1	p.Trp1031Gly	VAR_033245	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Trp1031Arg	VAR_068390	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Glu1032Gln	rs1355615827	missense variant	-	NC_000008.11:g.60822639G>C	gnomAD
CHD7	Q9P2D1	p.Arg1036Ter	RCV000578888	nonsense	-	NC_000008.11:g.60822651C>T	ClinVar
CHD7	Q9P2D1	p.Arg1036Ter	rs1554597716	stop gained	-	NC_000008.11:g.60822651C>T	-
CHD7	Q9P2D1	p.Arg1036Ter	RCV000578162	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60822651C>T	ClinVar
CHD7	Q9P2D1	p.Leu1041Val	rs1210329706	missense variant	-	NC_000008.11:g.60822666T>G	TOPMed
CHD7	Q9P2D1	p.Val1043Met	rs1385327274	missense variant	-	NC_000008.11:g.60822672G>A	gnomAD
CHD7	Q9P2D1	p.Val1044Ter	RCV000493601	frameshift	-	NC_000008.11:g.60822675del	ClinVar
CHD7	Q9P2D1	p.His1047Tyr	rs755751876	missense variant	-	NC_000008.11:g.60822684C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly1048Trp	COSM751065	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822687G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly1048Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60822688G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gln1050Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60822693C>G	NCI-TCGA
CHD7	Q9P2D1	p.Ala1051Thr	rs777431660	missense variant	-	NC_000008.11:g.60822696G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser1052Thr	rs1020281061	missense variant	-	NC_000008.11:g.60822700G>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1053Cys	rs1064794432	missense variant	-	NC_000008.11:g.60822702C>T	-
CHD7	Q9P2D1	p.Arg1053Cys	RCV000485689	missense variant	-	NC_000008.11:g.60822702C>T	ClinVar
CHD7	Q9P2D1	p.Arg1053His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60822703G>A	NCI-TCGA
CHD7	Q9P2D1	p.Arg1054Gln	rs750203389	missense variant	-	NC_000008.11:g.60822706G>A	gnomAD
CHD7	Q9P2D1	p.Ile1056Leu	rs749081560	missense variant	-	NC_000008.11:g.60822711A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu1058Phe	rs535533268	missense variant	-	NC_000008.11:g.60822719G>C	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu1058Phe	rs535533268	missense variant	-	NC_000008.11:g.60822719G>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu1060Lys	COSM3650071	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822723G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Lys1064Glu	rs200565677	missense variant	-	NC_000008.11:g.60822735A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1064Ile	rs771941657	missense variant	-	NC_000008.11:g.60822736A>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1064Arg	rs771941657	missense variant	-	NC_000008.11:g.60822736A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1065Val	rs776699815	missense variant	-	NC_000008.11:g.60822739A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro1066Ser	COSM3650072	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60822741C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg1069Gln	rs1346050533	missense variant	-	NC_000008.11:g.60823844G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1069Leu	rs1346050533	missense variant	-	NC_000008.11:g.60823844G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1069Ter	RCV000760387	nonsense	-	NC_000008.11:g.60823843C>T	ClinVar
CHD7	Q9P2D1	p.Arg1069Ter	rs886040985	stop gained	-	NC_000008.11:g.60823843C>T	-
CHD7	Q9P2D1	p.Arg1069Ter	RCV000258145	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60823843C>T	ClinVar
CHD7	Q9P2D1	p.Arg1069Ter	RCV000763599	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60823843C>T	ClinVar
CHD7	Q9P2D1	p.Val1070Ter	RCV000578186	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60823847del	ClinVar
CHD7	Q9P2D1	p.Val1070Met	rs1238116912	missense variant	-	NC_000008.11:g.60823846G>A	gnomAD
CHD7	Q9P2D1	p.Val1070Leu	rs1238116912	missense variant	-	NC_000008.11:g.60823846G>T	gnomAD
CHD7	Q9P2D1	p.Ile1071Met	rs1352516422	missense variant	-	NC_000008.11:g.60823851A>G	gnomAD
CHD7	Q9P2D1	p.Ile1071Leu	rs1269074513	missense variant	-	NC_000008.11:g.60823849A>T	gnomAD
CHD7	Q9P2D1	p.Lys1072Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60823854G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly1073Arg	rs1288621938	missense variant	-	NC_000008.11:g.60823855G>C	gnomAD
CHD7	Q9P2D1	p.Ser1074Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60823859C>A	NCI-TCGA
CHD7	Q9P2D1	p.Tyr1075Cys	rs759929302	missense variant	-	NC_000008.11:g.60823862A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1076Ter	RCV000483407	frameshift	-	NC_000008.11:g.60823864_60823865del	ClinVar
CHD7	Q9P2D1	p.His1078Tyr	RCV000480751	missense variant	-	NC_000008.11:g.60823870C>T	ClinVar
CHD7	Q9P2D1	p.His1078Tyr	rs1064795519	missense variant	-	NC_000008.11:g.60823870C>T	-
CHD7	Q9P2D1	p.Ile1080Val	rs1271767085	missense variant	-	NC_000008.11:g.60823876A>G	gnomAD
CHD7	Q9P2D1	p.Ile1081Val	rs768184220	missense variant	-	NC_000008.11:g.60823879A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile1081Phe	RCV000258096	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60823879A>T	ClinVar
CHD7	Q9P2D1	p.Ile1081Phe	rs768184220	missense variant	-	NC_000008.11:g.60823879A>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile1081Val	RCV000624519	missense variant	Inborn genetic diseases	NC_000008.11:g.60823879A>G	ClinVar
CHD7	Q9P2D1	p.Ile1081Val	RCV000300836	missense variant	-	NC_000008.11:g.60823879A>G	ClinVar
CHD7	Q9P2D1	p.Ile1081Ser	VAR_068391	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Thr1082Asn	VAR_068392	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Glu1085Gly	COSM5069258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60823892A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu1085Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60823891G>C	NCI-TCGA
CHD7	Q9P2D1	p.Met1086Ile	rs975784203	missense variant	-	NC_000008.11:g.60823896G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Met1086Lys	rs1181600074	missense variant	-	NC_000008.11:g.60823895T>A	gnomAD
CHD7	Q9P2D1	p.Ile1087Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60823898T>G	NCI-TCGA
CHD7	Q9P2D1	p.Leu1088Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60823901T>G	NCI-TCGA
CHD7	Q9P2D1	p.Asp1090Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60823906G>A	NCI-TCGA
CHD7	Q9P2D1	p.Cys1091Tyr	rs1409115249	missense variant	-	NC_000008.11:g.60823910G>A	TOPMed
CHD7	Q9P2D1	p.Arg1095Trp	rs1159367533	missense variant	-	NC_000008.11:g.60823921C>T	gnomAD
CHD7	Q9P2D1	p.Arg1100Leu	rs767259131	missense variant	-	NC_000008.11:g.60823937G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1100His	rs767259131	missense variant	-	NC_000008.11:g.60823937G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1100Cys	rs753233210	missense variant	-	NC_000008.11:g.60823936C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1100His	RCV000326831	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60823937G>A	ClinVar
CHD7	Q9P2D1	p.Arg1100His	RCV000381415	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60823937G>A	ClinVar
CHD7	Q9P2D1	p.Arg1100His	RCV000766019	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60823937G>A	ClinVar
CHD7	Q9P2D1	p.Cys1101Tyr	RCV000522694	missense variant	-	NC_000008.11:g.60823940G>A	ClinVar
CHD7	Q9P2D1	p.Cys1101Tyr	rs1554598013	missense variant	-	NC_000008.11:g.60823940G>A	-
CHD7	Q9P2D1	p.Cys1101Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60823940G>T	NCI-TCGA
CHD7	Q9P2D1	p.Cys1101Arg	VAR_068393	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Glu1106Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60823954G>A	NCI-TCGA
CHD7	Q9P2D1	p.His1108Tyr	rs1064796196	missense variant	-	NC_000008.11:g.60823960C>T	-
CHD7	Q9P2D1	p.His1108Tyr	RCV000485400	missense variant	-	NC_000008.11:g.60823960C>T	ClinVar
CHD7	Q9P2D1	p.Asn1112Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60823972A>G	NCI-TCGA
CHD7	Q9P2D1	p.Cys1115Gly	rs746962597	missense variant	-	NC_000008.11:g.60823981T>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Cys1115Tyr	RCV000717781	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60823982G>A	ClinVar
CHD7	Q9P2D1	p.Lys1116Arg	RCV000634438	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60823985A>G	ClinVar
CHD7	Q9P2D1	p.Lys1116Glu	COSM3900862	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60823984A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Lys1116Arg	rs750214154	missense variant	-	NC_000008.11:g.60823985A>G	gnomAD
CHD7	Q9P2D1	p.Lys1122Asn	RCV000346766	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60824004G>C	ClinVar
CHD7	Q9P2D1	p.Lys1122Arg	rs1291839866	missense variant	-	NC_000008.11:g.60824003A>G	gnomAD
CHD7	Q9P2D1	p.Lys1122Asn	rs41272440	missense variant	-	NC_000008.11:g.60824004G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1122Asn	RCV000291799	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60824004G>C	ClinVar
CHD7	Q9P2D1	p.Lys1122Asn	RCV000416000	missense variant	-	NC_000008.11:g.60824004G>C	ClinVar
CHD7	Q9P2D1	p.Met1123Thr	rs777911634	missense variant	-	NC_000008.11:g.60824006T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Met1124Leu	rs749340474	missense variant	-	NC_000008.11:g.60824008A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu1127Lys	COSM751061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60828663G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu1127Ter	RCV000695614	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60828663G>T	ClinVar
CHD7	Q9P2D1	p.His1128Tyr	rs747298346	missense variant	-	NC_000008.11:g.60828666C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys1129Glu	rs1338039240	missense variant	-	NC_000008.11:g.60828669A>G	TOPMed
CHD7	Q9P2D1	p.Thr1133Met	RCV000624092	missense variant	Inborn genetic diseases	NC_000008.11:g.60828682C>T	ClinVar
CHD7	Q9P2D1	p.Thr1133Met	rs1064793083	missense variant	-	NC_000008.11:g.60828682C>T	gnomAD
CHD7	Q9P2D1	p.Pro1136Leu	rs1469743143	missense variant	-	NC_000008.11:g.60828691C>T	TOPMed
CHD7	Q9P2D1	p.Pro1136Thr	rs1470865317	missense variant	-	NC_000008.11:g.60828690C>A	gnomAD
CHD7	Q9P2D1	p.Gln1138Ter	RCV000622357	frameshift	Inborn genetic diseases	NC_000008.11:g.60828698_60828714del	ClinVar
CHD7	Q9P2D1	p.Gln1138Ter	RCV000663356	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60828696C>T	ClinVar
CHD7	Q9P2D1	p.Gln1138Ter	rs1554599035	stop gained	-	NC_000008.11:g.60828696C>T	-
CHD7	Q9P2D1	p.Phe1145Leu	rs1131691908	missense variant	-	NC_000008.11:g.60828717T>C	-
CHD7	Q9P2D1	p.Phe1145Leu	RCV000493421	missense variant	-	NC_000008.11:g.60828717T>C	ClinVar
CHD7	Q9P2D1	p.Leu1151Met	rs961259038	missense variant	-	NC_000008.11:g.60828735T>A	TOPMed
CHD7	Q9P2D1	p.Glu1152Lys	COSM3650073	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60828738G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro1153Ala	rs1344277062	missense variant	-	NC_000008.11:g.60828741C>G	gnomAD
CHD7	Q9P2D1	p.Ser1154Ile	rs764723539	missense variant	-	NC_000008.11:g.60828745G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1155Cys	RCV000174785	missense variant	-	NC_000008.11:g.60828747C>T	ClinVar
CHD7	Q9P2D1	p.Arg1155Cys	rs201769233	missense variant	-	NC_000008.11:g.60828747C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1155Cys	RCV000766020	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60828747C>T	ClinVar
CHD7	Q9P2D1	p.Arg1155His	rs762669262	missense variant	-	NC_000008.11:g.60828748G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro1157Leu	rs765906108	missense variant	-	NC_000008.11:g.60828754C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu1159Ter	COSM1100806	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60828759G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Thr1160Ala	rs1243219561	missense variant	-	NC_000008.11:g.60828762A>G	TOPMed
CHD7	Q9P2D1	p.Thr1161Ala	rs1283273131	missense variant	-	NC_000008.11:g.60828765A>G	gnomAD
CHD7	Q9P2D1	p.Thr1161Arg	rs1344168572	missense variant	-	NC_000008.11:g.60828766C>G	gnomAD
CHD7	Q9P2D1	p.Met1163Val	rs886044534	missense variant	-	NC_000008.11:g.60828771A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Met1163Val	RCV000342002	missense variant	-	NC_000008.11:g.60828771A>G	ClinVar
CHD7	Q9P2D1	p.Gln1164Ter	RCV000530377	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60828774C>T	ClinVar
CHD7	Q9P2D1	p.Gln1164Ter	rs1554599065	stop gained	-	NC_000008.11:g.60828774C>T	-
CHD7	Q9P2D1	p.Leu1169Val	rs751392287	missense variant	-	NC_000008.11:g.60828789C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1176Ter	rs886040986	stop gained	-	NC_000008.11:g.60830325C>T	-
CHD7	Q9P2D1	p.Gln1176Ter	RCV000258125	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60830325C>T	ClinVar
CHD7	Q9P2D1	p.Gln1179Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60830334C>A	NCI-TCGA
CHD7	Q9P2D1	p.Ala1180Val	rs767403090	missense variant	-	NC_000008.11:g.60830338C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro1184Ser	rs1405371608	missense variant	-	NC_000008.11:g.60830349C>T	gnomAD
CHD7	Q9P2D1	p.Arg1189His	rs1554599432	missense variant	-	NC_000008.11:g.60830365G>A	-
CHD7	Q9P2D1	p.Arg1189Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60830364C>T	NCI-TCGA
CHD7	Q9P2D1	p.Arg1189His	RCV000500626	missense variant	-	NC_000008.11:g.60830365G>A	ClinVar
CHD7	Q9P2D1	p.Lys1191Ter	RCV000258078	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60830371_60830372del	ClinVar
CHD7	Q9P2D1	p.Glu1192Asp	rs760691058	missense variant	-	NC_000008.11:g.60830375G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Val1194Ala	rs1300228709	missense variant	-	NC_000008.11:g.60830380T>C	gnomAD
CHD7	Q9P2D1	p.Val1194Ile	rs764084755	missense variant	-	NC_000008.11:g.60830379G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys1196Asn	COSM1100809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830387G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn1197Lys	rs750556683	missense variant	-	NC_000008.11:g.60830390C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu1202Lys	rs1405896321	missense variant	-	NC_000008.11:g.60830403G>A	TOPMed
CHD7	Q9P2D1	p.Glu1203Gln	VAR_068125	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Ile1205Val	rs751726519	missense variant	-	NC_000008.11:g.60830412A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile1205Val	RCV000171413	missense variant	-	NC_000008.11:g.60830412A>G	ClinVar
CHD7	Q9P2D1	p.Ile1206Thr	rs781551719	missense variant	-	NC_000008.11:g.60830416T>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile1206Val	rs755429625	missense variant	-	NC_000008.11:g.60830415A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile1206Ter	RCV000578151	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60830405_60830415dup	ClinVar
CHD7	Q9P2D1	p.Val1208Asp	rs886040988	missense variant	-	NC_000008.11:g.60830422T>A	-
CHD7	Q9P2D1	p.Val1208Asp	RCV000623136	missense variant	Inborn genetic diseases	NC_000008.11:g.60830422T>A	ClinVar
CHD7	Q9P2D1	p.Glu1209Asp	COSM3900863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830426G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ile1213Val	rs748470843	missense variant	-	NC_000008.11:g.60830436A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln1214Ter	COSM3925441	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60830439C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gln1214Arg	VAR_033246	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Tyr1217His	rs990140093	missense variant	-	NC_000008.11:g.60830448T>C	TOPMed
CHD7	Q9P2D1	p.Arg1219Ter	RCV000509342	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60830454C>T	ClinVar
CHD7	Q9P2D1	p.Arg1219Ter	RCV000303888	nonsense	-	NC_000008.11:g.60830454C>T	ClinVar
CHD7	Q9P2D1	p.Arg1219Gln	rs888026080	missense variant	-	NC_000008.11:g.60830455G>A	TOPMed
CHD7	Q9P2D1	p.Arg1219Ter	rs372174845	stop gained	-	NC_000008.11:g.60830454C>T	ESP,TOPMed
CHD7	Q9P2D1	p.Ala1220Val	rs1181372363	missense variant	-	NC_000008.11:g.60830458C>T	gnomAD
CHD7	Q9P2D1	p.Asn1225Ter	RCV000258122	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60830473dup	ClinVar
CHD7	Q9P2D1	p.Asn1225Ser	COSM1457705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830473A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Phe1226Ter	RCV000196644	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60830477del	ClinVar
CHD7	Q9P2D1	p.Thr1227Ala	COSM3900864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830478A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly1232Arg	rs770339483	missense variant	-	NC_000008.11:g.60830493G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly1232Asp	rs759363907	missense variant	-	NC_000008.11:g.60830494G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly1233Val	rs1173391141	missense variant	-	NC_000008.11:g.60830497G>T	gnomAD
CHD7	Q9P2D1	p.Gly1233Asp	rs1173391141	missense variant	-	NC_000008.11:g.60830497G>A	gnomAD
CHD7	Q9P2D1	p.Gly1233Ser	rs190548814	missense variant	-	NC_000008.11:g.60830496G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly1233Ser	RCV000174934	missense variant	-	NC_000008.11:g.60830496G>A	ClinVar
CHD7	Q9P2D1	p.Gly1234Ser	rs1401518138	missense variant	-	NC_000008.11:g.60830499G>A	gnomAD
CHD7	Q9P2D1	p.Gln1235Pro	rs1355606296	missense variant	-	NC_000008.11:g.60830503A>C	TOPMed
CHD7	Q9P2D1	p.Gln1235His	rs1452304330	missense variant	-	NC_000008.11:g.60830504A>T	gnomAD
CHD7	Q9P2D1	p.Ala1236Thr	rs771781756	missense variant	-	NC_000008.11:g.60830505G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn1237Asp	COSM1100812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60830508A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn1237Ile	rs775459114	missense variant	-	NC_000008.11:g.60830509A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn1237IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60830507_60830538TAACGTACCTAACCTATTAAACACTATGATGG>-	NCI-TCGA
CHD7	Q9P2D1	p.Val1238Ile	rs794727150	missense variant	-	NC_000008.11:g.60830511G>A	-
CHD7	Q9P2D1	p.Val1238Ile	RCV000174935	missense variant	-	NC_000008.11:g.60830511G>A	ClinVar
CHD7	Q9P2D1	p.Asn1240Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60830519C>G	NCI-TCGA
CHD7	Q9P2D1	p.Met1245Val	rs763159837	missense variant	-	NC_000008.11:g.60830532A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met1246Val	rs376803225	missense variant	-	NC_000008.11:g.60830535A>G	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1249Gln	RCV000485822	missense variant	-	NC_000008.11:g.60830545G>A	ClinVar
CHD7	Q9P2D1	p.Arg1249Trp	rs1050617514	missense variant	-	NC_000008.11:g.60830544C>T	TOPMed
CHD7	Q9P2D1	p.Arg1249Gln	rs369298165	missense variant	-	NC_000008.11:g.60830545G>A	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Cys1251Arg	VAR_068394	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Pro1255Ser	rs764970349	missense variant	-	NC_000008.11:g.60830562C>T	-
CHD7	Q9P2D1	p.Pro1255Leu	rs888843580	missense variant	-	NC_000008.11:g.60830563C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr1256Ter	RCV000234220	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60830567C>G	ClinVar
CHD7	Q9P2D1	p.Tyr1256Ter	rs878855032	stop gained	-	NC_000008.11:g.60830567C>G	-
CHD7	Q9P2D1	p.Leu1257Arg	rs121434339	missense variant	-	NC_000008.11:g.60830569T>G	-
CHD7	Q9P2D1	p.Leu1257Arg	rs121434339	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60830569T>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Leu1257Arg	VAR_021060	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60830569T>G	UniProt
CHD7	Q9P2D1	p.Leu1257Arg	RCV000002101	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60830569T>G	ClinVar
CHD7	Q9P2D1	p.Ile1258Thr	rs1191906296	missense variant	-	NC_000008.11:g.60830572T>C	gnomAD
CHD7	Q9P2D1	p.Asn1259Ser	rs1239880284	missense variant	-	NC_000008.11:g.60830575A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly1260Asp	rs1421668887	missense variant	-	NC_000008.11:g.60836073G>A	gnomAD
CHD7	Q9P2D1	p.Ala1261Ser	rs752911585	missense variant	-	NC_000008.11:g.60836075G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu1263Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60836083G>T	NCI-TCGA
CHD7	Q9P2D1	p.Lys1264Thr	COSM299127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836085A>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu1266Trp	rs756523960	missense variant	-	NC_000008.11:g.60836091T>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu1268Asp	rs1173472655	missense variant	-	NC_000008.11:g.60836098G>C	gnomAD
CHD7	Q9P2D1	p.Phe1269Ter	RCV000484664	frameshift	-	NC_000008.11:g.60836101del	ClinVar
CHD7	Q9P2D1	p.Phe1269Leu	rs764375888	missense variant	-	NC_000008.11:g.60836099T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu1271Ter	RCV000002106	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60836105G>T	ClinVar
CHD7	Q9P2D1	p.Glu1271Ter	RCV000258074	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60836105_60836108del	ClinVar
CHD7	Q9P2D1	p.Glu1271Ter	rs121434342	stop gained	-	NC_000008.11:g.60836105G>T	-
CHD7	Q9P2D1	p.Thr1272Ala	rs1291851735	missense variant	-	NC_000008.11:g.60836108A>G	TOPMed
CHD7	Q9P2D1	p.Asn1274Asp	rs1331474623	missense variant	-	NC_000008.11:g.60836114A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn1274Lys	rs754161857	missense variant	-	NC_000008.11:g.60836116T>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn1274His	rs1331474623	missense variant	-	NC_000008.11:g.60836114A>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1275Glu	rs757734110	missense variant	-	NC_000008.11:g.60836118C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro1278Ala	rs1356784947	missense variant	-	NC_000008.11:g.60836126C>G	TOPMed
CHD7	Q9P2D1	p.Asp1279Asn	rs864622150	missense variant	-	NC_000008.11:g.60836129G>A	-
CHD7	Q9P2D1	p.Asp1279Gly	rs900280483	missense variant	-	NC_000008.11:g.60836130A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1279Asn	RCV000206559	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836129G>A	ClinVar
CHD7	Q9P2D1	p.Gln1281His	rs745423641	missense variant	-	NC_000008.11:g.60836137G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln1281Pro	rs779430154	missense variant	-	NC_000008.11:g.60836136A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln1281Ter	COSM422091	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60836135C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu1282Phe	rs376693269	missense variant	-	NC_000008.11:g.60836138C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1283His	rs779923086	missense variant	-	NC_000008.11:g.60836143G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1283Arg	rs1374317422	missense variant	-	NC_000008.11:g.60836142A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1284Thr	rs746646687	missense variant	-	NC_000008.11:g.60836144G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Met1285Val	rs768366220	missense variant	-	NC_000008.11:g.60836147A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile1286Leu	rs776296694	missense variant	-	NC_000008.11:g.60836150A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln1287Ter	RCV000578591	nonsense	-	NC_000008.11:g.60836153C>T	ClinVar
CHD7	Q9P2D1	p.Gln1287Ter	rs1554600522	stop gained	-	NC_000008.11:g.60836153C>T	-
CHD7	Q9P2D1	p.Ala1288Phe	NCI-TCGA novel	insertion	-	NC_000008.11:g.60836157_60836158insATT	NCI-TCGA
CHD7	Q9P2D1	p.Ala1289Val	COSM3900868	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836160C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ala1289TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60836158_60836159insTG	NCI-TCGA
CHD7	Q9P2D1	p.Ala1289CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60836157_60836158insA	NCI-TCGA
CHD7	Q9P2D1	p.Gly1290Arg	RCV000081833	missense variant	-	NC_000008.11:g.60836162G>C	ClinVar
CHD7	Q9P2D1	p.Gly1290Arg	rs398124318	missense variant	-	NC_000008.11:g.60836162G>C	-
CHD7	Q9P2D1	p.Lys1291Glu	VAR_072960	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
CHD7	Q9P2D1	p.Leu1292Pro	VAR_068395	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Leu1294Pro	rs864309609	missense variant	-	NC_000008.11:g.60836175T>C	-
CHD7	Q9P2D1	p.Leu1294Pro	rs864309609	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60836175T>C	UniProt,dbSNP
CHD7	Q9P2D1	p.Leu1294Pro	VAR_033247	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60836175T>C	UniProt
CHD7	Q9P2D1	p.Leu1294Pro	RCV000203151	missense variant	-	NC_000008.11:g.60836175T>C	ClinVar
CHD7	Q9P2D1	p.Ile1295Asn	COSM6181209	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836178T>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp1296Asn	rs1326582096	missense variant	-	NC_000008.11:g.60836180G>A	gnomAD
CHD7	Q9P2D1	p.Asp1296His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60836180G>C	NCI-TCGA
CHD7	Q9P2D1	p.Pro1300Ser	COSM3650075	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836192C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro1300Gln	rs185150226	missense variant	-	NC_000008.11:g.60836193C>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1301Glu	COSM6181208	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836195A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu1302Pro	RCV000770778	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836199T>C	ClinVar
CHD7	Q9P2D1	p.Leu1302Pro	VAR_072961	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Lys1303Asn	rs1240467477	missense variant	-	NC_000008.11:g.60836203G>T	gnomAD
CHD7	Q9P2D1	p.Lys1303Ter	RCV000481790	nonsense	-	NC_000008.11:g.60836199_60836200dup	ClinVar
CHD7	Q9P2D1	p.Ala1304Thr	rs1313841155	missense variant	-	NC_000008.11:g.60836204G>A	gnomAD
CHD7	Q9P2D1	p.Gly1305Ser	rs1246333602	missense variant	-	NC_000008.11:g.60836207G>A	gnomAD
CHD7	Q9P2D1	p.Arg1308Ser	rs757404948	missense variant	-	NC_000008.11:g.60836218G>C	gnomAD
CHD7	Q9P2D1	p.Val1309Leu	rs1357628879	missense variant	-	NC_000008.11:g.60836219G>T	gnomAD
CHD7	Q9P2D1	p.Leu1310Phe	RCV000717551	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60836222C>T	ClinVar
CHD7	Q9P2D1	p.Ile1311Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60836225A>G	NCI-TCGA
CHD7	Q9P2D1	p.Ser1313Ter	RCV000555288	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60836231del	ClinVar
CHD7	Q9P2D1	p.Val1316Gly	rs1172820901	missense variant	-	NC_000008.11:g.60836241T>G	TOPMed
CHD7	Q9P2D1	p.Arg1317Cys	RCV000081834	missense variant	-	NC_000008.11:g.60836243C>T	ClinVar
CHD7	Q9P2D1	p.Arg1317Gly	rs373301291	missense variant	-	NC_000008.11:g.60836243C>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1317Ser	rs373301291	missense variant	-	NC_000008.11:g.60836243C>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1317Cys	RCV000766021	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836243C>T	ClinVar
CHD7	Q9P2D1	p.Arg1317Cys	rs373301291	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60836243C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg1317Cys	VAR_068396	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60836243C>T	UniProt
CHD7	Q9P2D1	p.Arg1317Cys	rs373301291	missense variant	-	NC_000008.11:g.60836243C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1317Cys	RCV000791508	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836243C>T	ClinVar
CHD7	Q9P2D1	p.Arg1317His	rs1236755820	missense variant	-	NC_000008.11:g.60836244G>A	gnomAD
CHD7	Q9P2D1	p.Cys1318Arg	VAR_068397	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Leu1322Ter	RCV000238786	frameshift	-	NC_000008.11:g.60836258del	ClinVar
CHD7	Q9P2D1	p.Leu1322Ter	RCV000258139	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60836258del	ClinVar
CHD7	Q9P2D1	p.Leu1322Pro	VAR_068127	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Glu1323Lys	rs886041168	missense variant	-	NC_000008.11:g.60836261G>A	-
CHD7	Q9P2D1	p.Glu1323Lys	RCV000339963	missense variant	-	NC_000008.11:g.60836261G>A	ClinVar
CHD7	Q9P2D1	p.Tyr1325His	RCV000175090	missense variant	-	NC_000008.11:g.60836267T>C	ClinVar
CHD7	Q9P2D1	p.Tyr1325His	rs377535841	missense variant	-	NC_000008.11:g.60836267T>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr1325His	RCV000531900	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836267T>C	ClinVar
CHD7	Q9P2D1	p.Ile1327Val	rs1242697341	missense variant	-	NC_000008.11:g.60836273A>G	gnomAD
CHD7	Q9P2D1	p.Arg1330Gln	rs1060503186	missense variant	-	NC_000008.11:g.60836283G>A	-
CHD7	Q9P2D1	p.Arg1330Trp	RCV000634439	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836282C>T	ClinVar
CHD7	Q9P2D1	p.Arg1330Gln	RCV000468988	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836283G>A	ClinVar
CHD7	Q9P2D1	p.Arg1330Trp	RCV000719978	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60836282C>T	ClinVar
CHD7	Q9P2D1	p.Arg1330Trp	rs369542138	missense variant	-	NC_000008.11:g.60836282C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr1333Cys	RCV000723102	missense variant	-	NC_000008.11:g.60836825A>G	ClinVar
CHD7	Q9P2D1	p.Asp1337Asn	rs1283068862	missense variant	-	NC_000008.11:g.60836836G>A	gnomAD
CHD7	Q9P2D1	p.Arg1339Gln	rs770876591	missense variant	-	NC_000008.11:g.60836843G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1339Ter	RCV000727588	nonsense	-	NC_000008.11:g.60836842C>T	ClinVar
CHD7	Q9P2D1	p.Arg1341Gly	rs1485619015	missense variant	-	NC_000008.11:g.60836848A>G	gnomAD
CHD7	Q9P2D1	p.Asn1343Ser	rs778797882	missense variant	-	NC_000008.11:g.60836855A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu1344Phe	rs1478092831	missense variant	-	NC_000008.11:g.60836857C>T	gnomAD
CHD7	Q9P2D1	p.Arg1345Cys	RCV000689551	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60836860C>T	ClinVar
CHD7	Q9P2D1	p.Arg1345Cys	VAR_068128	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
CHD7	Q9P2D1	p.Arg1345His	VAR_068398	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Arg1345Cys	VAR_068128	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Ala1347Val	rs1434621688	missense variant	-	NC_000008.11:g.60836867C>T	gnomAD
CHD7	Q9P2D1	p.Ile1349Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60836872A>G	NCI-TCGA
CHD7	Q9P2D1	p.Asp1350Ala	rs1224748534	missense variant	-	NC_000008.11:g.60836876A>C	TOPMed
CHD7	Q9P2D1	p.Arg1351Lys	COSM4940895	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836879G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser1357Phe	COSM3650077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836897C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser1357Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60836897C>G	NCI-TCGA
CHD7	Q9P2D1	p.Asp1358Asn	COSM1314138	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836899G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg1359Lys	rs1053656903	missense variant	-	NC_000008.11:g.60836903G>A	gnomAD
CHD7	Q9P2D1	p.Phe1360Cys	COSM1457715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836906T>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu1363His	rs1064796242	missense variant	-	NC_000008.11:g.60836915T>A	-
CHD7	Q9P2D1	p.Leu1363His	RCV000485513	missense variant	-	NC_000008.11:g.60836915T>A	ClinVar
CHD7	Q9P2D1	p.Leu1364Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60836918T>C	NCI-TCGA
CHD7	Q9P2D1	p.Arg1367Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60836927G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly1369Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60836932G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly1370Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60836935G>C	NCI-TCGA
CHD7	Q9P2D1	p.Leu1371Ter	rs1554600633	stop gained	-	NC_000008.11:g.60836939T>G	-
CHD7	Q9P2D1	p.Leu1371Val	COSM1457717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836938T>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu1371Ter	RCV000498174	nonsense	-	NC_000008.11:g.60836939T>G	ClinVar
CHD7	Q9P2D1	p.Leu1375Phe	VAR_072962	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
CHD7	Q9P2D1	p.Ala1377Val	COSM3900869	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836957C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp1379Ala	rs1085307453	missense variant	-	NC_000008.11:g.60836963A>C	-
CHD7	Q9P2D1	p.Asp1379Ala	RCV000489569	missense variant	-	NC_000008.11:g.60836963A>C	ClinVar
CHD7	Q9P2D1	p.Thr1380Ile	rs763364392	missense variant	-	NC_000008.11:g.60836966C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Cys1381Phe	COSM1330937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60836969G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp1393Val	rs1338287653	missense variant	-	NC_000008.11:g.60837005A>T	TOPMed
CHD7	Q9P2D1	p.Gln1395His	VAR_068129	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Gln1397Ter	RCV000401389	nonsense	-	NC_000008.11:g.60837671C>T	ClinVar
CHD7	Q9P2D1	p.Gln1397Ter	rs886041169	stop gained	-	NC_000008.11:g.60837671C>T	-
CHD7	Q9P2D1	p.Ala1398Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60837675C>T	NCI-TCGA
CHD7	Q9P2D1	p.Cys1400Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60837681G>A	NCI-TCGA
CHD7	Q9P2D1	p.Arg1402Thr	COSM4833836	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60837687G>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser1406Asn	rs1222155579	missense variant	-	NC_000008.11:g.60837699G>A	gnomAD
CHD7	Q9P2D1	p.Tyr1412Cys	rs879034549	missense variant	-	NC_000008.11:g.60837717A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr1416Ile	rs770166812	missense variant	-	NC_000008.11:g.60837729C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr1416Arg	rs770166812	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60837729C>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Thr1416Arg	VAR_068130	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60837729C>G	UniProt
CHD7	Q9P2D1	p.Thr1416Arg	rs770166812	missense variant	-	NC_000008.11:g.60837729C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr1416Arg	RCV000434719	missense variant	-	NC_000008.11:g.60837729C>G	ClinVar
CHD7	Q9P2D1	p.Glu1423Gly	COSM1100818	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60837750A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Met1424Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60837754G>A	NCI-TCGA
CHD7	Q9P2D1	p.Phe1425Leu	rs749735125	missense variant	-	NC_000008.11:g.60837755T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1426Asn	rs1363072530	missense variant	-	NC_000008.11:g.60837758G>A	gnomAD
CHD7	Q9P2D1	p.Ala1428Ser	rs774794325	missense variant	-	NC_000008.11:g.60837764G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1428Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60837765C>A	NCI-TCGA
CHD7	Q9P2D1	p.Lys1431Glu	rs1554600817	missense variant	-	NC_000008.11:g.60837773A>G	-
CHD7	Q9P2D1	p.Lys1431Glu	RCV000523301	missense variant	-	NC_000008.11:g.60837773A>G	ClinVar
CHD7	Q9P2D1	p.Ala1437Thr	rs1200383955	missense variant	-	NC_000008.11:g.60837791G>A	TOPMed
CHD7	Q9P2D1	p.Gln1440Ter	rs587783440	stop gained	-	NC_000008.11:g.60837800C>T	-
CHD7	Q9P2D1	p.Gln1440Ter	RCV000145669	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60837800C>T	ClinVar
CHD7	Q9P2D1	p.Met1442Val	rs561821477	missense variant	-	NC_000008.11:g.60837806A>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Ser1443Asn	rs1333684435	missense variant	-	NC_000008.11:g.60837810G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1445Thr	COSM3650078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60837816G>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Thr1449Ala	rs763774718	missense variant	-	NC_000008.11:g.60837827A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn1450Ser	rs371850160	missense variant	-	NC_000008.11:g.60837831A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val1452Ile	rs932165314	missense variant	-	NC_000008.11:g.60838076G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1454His	rs771207233	missense variant	-	NC_000008.11:g.60838084G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys1457Gln	VAR_068131	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Glu1459Gln	rs1220292735	missense variant	-	NC_000008.11:g.60838097G>C	gnomAD
CHD7	Q9P2D1	p.Ile1460Ter	RCV000365843	frameshift	-	NC_000008.11:g.60838101_60838102del	ClinVar
CHD7	Q9P2D1	p.Glu1461Ter	rs1322512274	stop gained	-	NC_000008.11:g.60838103G>T	gnomAD
CHD7	Q9P2D1	p.Asp1462Val	rs774809528	missense variant	-	NC_000008.11:g.60838107A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1462Gly	rs774809528	missense variant	-	NC_000008.11:g.60838107A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu1464Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60838112C>G	NCI-TCGA
CHD7	Q9P2D1	p.Arg1465Ter	rs886040991	stop gained	-	NC_000008.11:g.60838115C>T	-
CHD7	Q9P2D1	p.Arg1465Gln	rs373095697	missense variant	-	NC_000008.11:g.60838116G>A	ESP,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1465Ter	RCV000258081	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60838115C>T	ClinVar
CHD7	Q9P2D1	p.Arg1465Ter	RCV000303960	nonsense	-	NC_000008.11:g.60838115C>T	ClinVar
CHD7	Q9P2D1	p.Tyr1469Ter	RCV000480102	nonsense	-	NC_000008.11:g.60838129T>G	ClinVar
CHD7	Q9P2D1	p.Tyr1469Ter	rs1064793962	stop gained	-	NC_000008.11:g.60838129T>G	-
CHD7	Q9P2D1	p.Glu1478Lys	COSM4833919	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60838154G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu1484Lys	rs1171098857	missense variant	-	NC_000008.11:g.60838172G>A	gnomAD
CHD7	Q9P2D1	p.Asp1486Asn	rs1427525760	missense variant	-	NC_000008.11:g.60838178G>A	gnomAD
CHD7	Q9P2D1	p.Gln1489His	rs1284610913	missense variant	-	NC_000008.11:g.60838189G>T	TOPMed
CHD7	Q9P2D1	p.Arg1493His	COSM273707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60838200G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg1493Cys	rs1009126876	missense variant	-	NC_000008.11:g.60838199C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1494Ter	rs587783442	stop gained	-	NC_000008.11:g.60838202C>T	-
CHD7	Q9P2D1	p.Arg1494Ter	RCV000145671	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60838202C>T	ClinVar
CHD7	Q9P2D1	p.Arg1494Ter	RCV000627201	nonsense	-	NC_000008.11:g.60838202C>T	ClinVar
CHD7	Q9P2D1	p.Thr1495Ala	rs1392837517	missense variant	-	NC_000008.11:g.60838205A>G	TOPMed
CHD7	Q9P2D1	p.Ile1498Leu	rs776062465	missense variant	-	NC_000008.11:g.60838214A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile1498Val	rs776062465	missense variant	-	NC_000008.11:g.60838214A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr1499Ter	RCV000693970	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60838216dup	ClinVar
CHD7	Q9P2D1	p.Thr1499Ile	rs1298659860	missense variant	-	NC_000008.11:g.60838218C>T	gnomAD
CHD7	Q9P2D1	p.Ile1500Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60838220A>G	NCI-TCGA
CHD7	Q9P2D1	p.Glu1501Asp	rs1402893182	missense variant	-	NC_000008.11:g.60838225G>T	TOPMed
CHD7	Q9P2D1	p.Ser1502Leu	rs1330309910	missense variant	-	NC_000008.11:g.60838227C>T	gnomAD
CHD7	Q9P2D1	p.Glu1503Ter	rs1064794248	stop gained	-	NC_000008.11:g.60838229G>T	-
CHD7	Q9P2D1	p.Glu1503Ter	RCV000485855	nonsense	-	NC_000008.11:g.60838229G>T	ClinVar
CHD7	Q9P2D1	p.Gly1504Glu	rs1345245155	missense variant	-	NC_000008.11:g.60838233G>A	gnomAD
CHD7	Q9P2D1	p.Lys1505Asn	rs764834051	missense variant	-	NC_000008.11:g.60838237A>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1505Glu	rs1465532061	missense variant	-	NC_000008.11:g.60838235A>G	TOPMed
CHD7	Q9P2D1	p.Gly1506Ser	rs750258756	missense variant	-	NC_000008.11:g.60838238G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly1506Asp	rs758108571	missense variant	-	NC_000008.11:g.60838239G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr1508Ile	rs1184118359	missense variant	-	NC_000008.11:g.60838245C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe1514Cys	rs1554601592	missense variant	-	NC_000008.11:g.60841651T>G	-
CHD7	Q9P2D1	p.Phe1514Val	COSM1457722	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841650T>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Phe1514Cys	RCV000556756	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60841651T>G	ClinVar
CHD7	Q9P2D1	p.Arg1520Ser	rs1435091278	missense variant	-	NC_000008.11:g.60841670G>T	TOPMed
CHD7	Q9P2D1	p.Arg1520Gly	rs1328955904	missense variant	-	NC_000008.11:g.60841668A>G	gnomAD
CHD7	Q9P2D1	p.Asp1522His	rs766098474	missense variant	-	NC_000008.11:g.60841674G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro1528Gln	rs751330029	missense variant	-	NC_000008.11:g.60841693C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1535Thr	COSM1100824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841713G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Lys1536Glu	rs759574788	missense variant	-	NC_000008.11:g.60841716A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys1536Arg	COSM1457724	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841717A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Lys1536Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841716A>C	NCI-TCGA
CHD7	Q9P2D1	p.Lys1537Ter	rs1057524501	stop gained	-	NC_000008.11:g.60841719A>T	gnomAD
CHD7	Q9P2D1	p.Lys1537Ter	RCV000423451	nonsense	-	NC_000008.11:g.60841719A>T	ClinVar
CHD7	Q9P2D1	p.Lys1537Gln	rs1057524501	missense variant	-	NC_000008.11:g.60841719A>C	gnomAD
CHD7	Q9P2D1	p.Lys1537Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841721G>C	NCI-TCGA
CHD7	Q9P2D1	p.Ala1538Ser	rs1378329072	missense variant	-	NC_000008.11:g.60841722G>T	gnomAD
CHD7	Q9P2D1	p.Glu1539Gln	rs1267689872	missense variant	-	NC_000008.11:g.60841725G>C	gnomAD
CHD7	Q9P2D1	p.Asp1541Asn	rs767513261	missense variant	-	NC_000008.11:g.60841731G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1541Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841731G>T	NCI-TCGA
CHD7	Q9P2D1	p.Ala1544Asp	rs779259762	missense variant	-	NC_000008.11:g.60841741C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1544Ter	RCV000145673	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60841744del	ClinVar
CHD7	Q9P2D1	p.Ala1544Val	rs779259762	missense variant	-	NC_000008.11:g.60841741C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly1547Arg	RCV000705262	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60841749G>C	ClinVar
CHD7	Q9P2D1	p.Arg1548GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60841749G>-	NCI-TCGA
CHD7	Q9P2D1	p.Asp1554Ter	RCV000705304	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60841864del	ClinVar
CHD7	Q9P2D1	p.Asp1554Asn	rs1359293887	missense variant	-	NC_000008.11:g.60841862G>A	gnomAD
CHD7	Q9P2D1	p.Asp1554Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841862G>T	NCI-TCGA
CHD7	Q9P2D1	p.Thr1555Asn	rs1296815856	missense variant	-	NC_000008.11:g.60841866C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro1556Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841868C>T	NCI-TCGA
CHD7	Q9P2D1	p.Arg1557Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841872G>A	NCI-TCGA
CHD7	Q9P2D1	p.Arg1557Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841872G>T	NCI-TCGA
CHD7	Q9P2D1	p.Lys1560Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841880A>C	NCI-TCGA
CHD7	Q9P2D1	p.Arg1563Lys	rs1215517669	missense variant	-	NC_000008.11:g.60841890G>A	gnomAD
CHD7	Q9P2D1	p.Leu1564Phe	rs1300898513	missense variant	-	NC_000008.11:g.60841892C>T	gnomAD
CHD7	Q9P2D1	p.Ser1566Arg	rs748779011	missense variant	-	NC_000008.11:g.60841900T>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser1566Asn	rs1235633257	missense variant	-	NC_000008.11:g.60841899G>A	gnomAD
CHD7	Q9P2D1	p.Ala1567Glu	rs1353000767	missense variant	-	NC_000008.11:g.60841902C>A	gnomAD
CHD7	Q9P2D1	p.Lys1569Glu	rs1214381598	missense variant	-	NC_000008.11:g.60841907A>G	gnomAD
CHD7	Q9P2D1	p.Glu1570Lys	rs770535723	missense variant	-	NC_000008.11:g.60841910G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu1572Lys	rs1486108104	missense variant	-	NC_000008.11:g.60841916G>A	gnomAD
CHD7	Q9P2D1	p.Leu1573Val	rs774115172	missense variant	-	NC_000008.11:g.60841919C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met1574Thr	rs1227553495	missense variant	-	NC_000008.11:g.60841923T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Met1574Leu	rs371385411	missense variant	-	NC_000008.11:g.60841922A>T	ESP,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe1576Cys	VAR_068132	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Asp1578Asn	COSM6113621	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841934G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp1578Glu	rs1434566381	missense variant	-	NC_000008.11:g.60841936C>G	gnomAD
CHD7	Q9P2D1	p.Leu1579Phe	rs560808712	missense variant	-	NC_000008.11:g.60841939G>C	gnomAD
CHD7	Q9P2D1	p.Leu1579Ser	rs893977114	missense variant	-	NC_000008.11:g.60841938T>C	TOPMed
CHD7	Q9P2D1	p.Glu1580Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841940G>A	NCI-TCGA
CHD7	Q9P2D1	p.Ser1581Gly	rs745721998	missense variant	-	NC_000008.11:g.60841943A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1582Gly	rs1229055939	missense variant	-	NC_000008.11:g.60841947A>G	TOPMed
CHD7	Q9P2D1	p.Pro1587Ser	rs984176767	missense variant	-	NC_000008.11:g.60841961C>T	gnomAD
CHD7	Q9P2D1	p.Pro1587Leu	rs587783444	missense variant	-	NC_000008.11:g.60841962C>T	TOPMed
CHD7	Q9P2D1	p.Pro1587Leu	RCV000145674	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60841962C>T	ClinVar
CHD7	Q9P2D1	p.Cys1588Trp	rs764053364	missense variant	-	NC_000008.11:g.60841966T>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Cys1588Phe	rs1011458802	missense variant	-	NC_000008.11:g.60841965G>T	TOPMed
CHD7	Q9P2D1	p.Cys1588Ser	rs760536535	missense variant	-	NC_000008.11:g.60841964T>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1589Thr	rs1432652391	missense variant	-	NC_000008.11:g.60841967G>A	TOPMed
CHD7	Q9P2D1	p.Arg1592Gln	rs1388750390	missense variant	-	NC_000008.11:g.60841977G>A	gnomAD
CHD7	Q9P2D1	p.Arg1592Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60841977G>T	NCI-TCGA
CHD7	Q9P2D1	p.Arg1592Trp	rs773187713	missense variant	-	NC_000008.11:g.60841976C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1592Trp	rs773187713	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60841976C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg1592Trp	VAR_072963	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60841976C>T	UniProt
CHD7	Q9P2D1	p.Arg1593His	rs766632082	missense variant	-	NC_000008.11:g.60841980G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1593Leu	COSM751053	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60841980G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg1593Cys	rs763070165	missense variant	-	NC_000008.11:g.60841979C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1593His	RCV000762515	missense variant	-	NC_000008.11:g.60841980G>A	ClinVar
CHD7	Q9P2D1	p.Arg1593His	RCV000816997	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60841980G>A	ClinVar
CHD7	Q9P2D1	p.Pro1594Ser	VAR_068399	Missense	-	-	UniProt
CHD7	Q9P2D1	p.Gln1595Arg	rs1288121136	missense variant	-	NC_000008.11:g.60841986A>G	gnomAD
CHD7	Q9P2D1	p.Asp1596Tyr	rs1165056483	missense variant	-	NC_000008.11:g.60841988G>T	TOPMed
CHD7	Q9P2D1	p.Asp1596Gly	RCV000426210	missense variant	-	NC_000008.11:g.60841989A>G	ClinVar
CHD7	Q9P2D1	p.Asp1596Gly	rs1057521078	missense variant	-	NC_000008.11:g.60841989A>G	-
CHD7	Q9P2D1	p.Lys1597Arg	rs1317419491	missense variant	-	NC_000008.11:g.60841992A>G	gnomAD
CHD7	Q9P2D1	p.Ser1598Ter	RCV000728187	nonsense	-	NC_000008.11:g.60841995C>G	ClinVar
CHD7	Q9P2D1	p.Gln1599Ter	RCV000002118	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60841997C>T	ClinVar
CHD7	Q9P2D1	p.Gln1599Ter	rs267606724	stop gained	-	NC_000008.11:g.60841997C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1599Glu	rs267606724	missense variant	-	NC_000008.11:g.60841997C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1599Ter	RCV000122607	nonsense	-	NC_000008.11:g.60841997C>T	ClinVar
CHD7	Q9P2D1	p.Gly1600Val	rs767869231	missense variant	-	NC_000008.11:g.60842001G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1602Thr	rs375951527	missense variant	-	NC_000008.11:g.60842006G>A	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Ser1604Thr	RCV000368388	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60842013G>C	ClinVar
CHD7	Q9P2D1	p.Ser1604Cys	COSM6181206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60842012A>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser1604Thr	rs367722051	missense variant	-	NC_000008.11:g.60842013G>C	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Ser1604Thr	RCV000273816	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60842013G>C	ClinVar
CHD7	Q9P2D1	p.Ser1604Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60842013G>A	NCI-TCGA
CHD7	Q9P2D1	p.Arg1608Ser	rs756787300	missense variant	-	NC_000008.11:g.60842026G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1608Lys	COSM486563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60842025G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Lys1611Asn	rs1401829997	missense variant	-	NC_000008.11:g.60842035G>T	gnomAD
CHD7	Q9P2D1	p.Asn1612Ter	RCV000578158	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60842037del	ClinVar
CHD7	Q9P2D1	p.Leu1613Ter	RCV000258110	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60842039_60842040del	ClinVar
CHD7	Q9P2D1	p.Leu1613Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60842039C>A	NCI-TCGA
CHD7	Q9P2D1	p.Tyr1616His	rs1249078741	missense variant	-	NC_000008.11:g.60842048T>C	TOPMed
CHD7	Q9P2D1	p.Tyr1616Cys	rs200964201	missense variant	-	NC_000008.11:g.60842049A>G	TOPMed
CHD7	Q9P2D1	p.Gly1617Ser	rs886040993	missense variant	-	NC_000008.11:g.60842051G>A	-
CHD7	Q9P2D1	p.Gly1617Ser	RCV000258142	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60842051G>A	ClinVar
CHD7	Q9P2D1	p.Gly1617Asp	VAR_068400	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Gly1619Arg	rs746823883	missense variant	-	NC_000008.11:g.60844868G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly1619Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60844869G>A	NCI-TCGA
CHD7	Q9P2D1	p.Gly1619Val	VAR_068401	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Arg1620Trp	rs986373484	missense variant	-	NC_000008.11:g.60844871C>T	-
CHD7	Q9P2D1	p.Arg1620Gln	rs768497646	missense variant	-	NC_000008.11:g.60844872G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1620Trp	RCV000484084	missense variant	-	NC_000008.11:g.60844871C>T	ClinVar
CHD7	Q9P2D1	p.Asp1623Val	rs781052111	missense variant	-	NC_000008.11:g.60844881A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1623His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60844880G>C	NCI-TCGA
CHD7	Q9P2D1	p.Ser1626Ala	rs1236280251	missense variant	-	NC_000008.11:g.60844889T>G	gnomAD
CHD7	Q9P2D1	p.Ser1626Phe	RCV000273564	missense variant	-	NC_000008.11:g.60844890C>T	ClinVar
CHD7	Q9P2D1	p.Ser1626Phe	rs369608927	missense variant	-	NC_000008.11:g.60844890C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser1626Phe	RCV000718711	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60844890C>T	ClinVar
CHD7	Q9P2D1	p.His1627Tyr	rs769675553	missense variant	-	NC_000008.11:g.60844892C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1629Cys	rs745837768	missense variant	-	NC_000008.11:g.60844898C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1629His	rs920422227	missense variant	-	NC_000008.11:g.60844899G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr1630Cys	rs1169925155	missense variant	-	NC_000008.11:g.60844902A>G	gnomAD
CHD7	Q9P2D1	p.Arg1632Cys	rs545545721	missense variant	-	NC_000008.11:g.60844907C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1632His	rs775776506	missense variant	-	NC_000008.11:g.60844908G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln1633Glu	rs1332300386	missense variant	-	NC_000008.11:g.60844910C>G	gnomAD
CHD7	Q9P2D1	p.Thr1635Ala	RCV000634432	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60844916A>G	ClinVar
CHD7	Q9P2D1	p.Thr1635Ala	rs372587744	missense variant	-	NC_000008.11:g.60844916A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr1635Ser	rs372587744	missense variant	-	NC_000008.11:g.60844916A>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu1636Asp	rs754082843	missense variant	-	NC_000008.11:g.60844921G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1638Glu	rs750002915	missense variant	-	NC_000008.11:g.60844927T>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1638Gly	rs765792756	missense variant	-	NC_000008.11:g.60844926A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1638His	rs762441929	missense variant	-	NC_000008.11:g.60844925G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1638Ter	RCV000206229	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60844928del	ClinVar
CHD7	Q9P2D1	p.Val1639Ile	rs1159520181	missense variant	-	NC_000008.11:g.60844928G>A	TOPMed
CHD7	Q9P2D1	p.Thr1641Ile	rs1347885772	missense variant	-	NC_000008.11:g.60844935C>T	gnomAD
CHD7	Q9P2D1	p.Ile1646Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60844949A>T	NCI-TCGA
CHD7	Q9P2D1	p.Tyr1649His	rs1342270477	missense variant	-	NC_000008.11:g.60844958T>C	gnomAD
CHD7	Q9P2D1	p.His1653Arg	rs1263084217	missense variant	-	NC_000008.11:g.60844971A>G	gnomAD
CHD7	Q9P2D1	p.Tyr1654Ter	RCV000339416	frameshift	-	NC_000008.11:g.60844974del	ClinVar
CHD7	Q9P2D1	p.Ser1662Ter	RCV000456117	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60844998del	ClinVar
CHD7	Q9P2D1	p.Ile1664Val	rs1448971315	missense variant	-	NC_000008.11:g.60845003A>G	TOPMed
CHD7	Q9P2D1	p.Trp1665Cys	rs1487550618	missense variant	-	NC_000008.11:g.60845008G>C	gnomAD
CHD7	Q9P2D1	p.Thr1669Ile	rs1243009172	missense variant	-	NC_000008.11:g.60845019C>T	gnomAD
CHD7	Q9P2D1	p.Thr1671Ile	rs1477841225	missense variant	-	NC_000008.11:g.60845025C>T	gnomAD
CHD7	Q9P2D1	p.Ala1672Val	rs61737194	missense variant	-	NC_000008.11:g.60845028C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1672Val	rs61737194	missense variant	-	NC_000008.11:g.60845028C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Ala1672Val	VAR_068402	missense variant	-	NC_000008.11:g.60845028C>T	UniProt
CHD7	Q9P2D1	p.Ala1672Glu	rs61737194	missense variant	-	NC_000008.11:g.60845028C>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1673Asn	rs769563309	missense variant	-	NC_000008.11:g.60845030G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1673LeuPhe	NCI-TCGA novel	insertion	-	NC_000008.11:g.60845031_60845032insCCTATT	NCI-TCGA
CHD7	Q9P2D1	p.Gln1675Ter	RCV000192854	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60845036C>T	ClinVar
CHD7	Q9P2D1	p.Gln1675His	rs769769149	missense variant	-	NC_000008.11:g.60845038G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1675Ter	rs797045467	stop gained	-	NC_000008.11:g.60845036C>T	-
CHD7	Q9P2D1	p.Arg1677Gln	rs1402277138	missense variant	-	NC_000008.11:g.60845043G>A	gnomAD
CHD7	Q9P2D1	p.Arg1677Ter	rs777652245	stop gained	-	NC_000008.11:g.60845042C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1677Ter	RCV000268757	nonsense	-	NC_000008.11:g.60845042C>T	ClinVar
CHD7	Q9P2D1	p.Ala1678Asp	rs1246655724	missense variant	-	NC_000008.11:g.60845046C>A	TOPMed
CHD7	Q9P2D1	p.Val1680Ala	rs746011394	missense variant	-	NC_000008.11:g.60845052T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.His1682Ter	RCV000599397	frameshift	-	NC_000008.11:g.60845057del	ClinVar
CHD7	Q9P2D1	p.Gly1684Ser	rs1554602465	missense variant	-	NC_000008.11:g.60845063G>A	-
CHD7	Q9P2D1	p.Gly1684Ser	rs1554602465	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60845063G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Gly1684Ser	VAR_068134	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60845063G>A	UniProt
CHD7	Q9P2D1	p.Gly1684Ser	RCV000623724	missense variant	Inborn genetic diseases	NC_000008.11:g.60845063G>A	ClinVar
CHD7	Q9P2D1	p.Lys1696Arg	rs755896254	missense variant	-	NC_000008.11:g.60845286A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Val1698Leu	rs777744183	missense variant	-	NC_000008.11:g.60845291G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln1701Ter	RCV000532812	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60845300del	ClinVar
CHD7	Q9P2D1	p.Ser1702Asn	RCV000717780	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60845304G>A	ClinVar
CHD7	Q9P2D1	p.Ser1702Asn	RCV000270088	missense variant	-	NC_000008.11:g.60845304G>A	ClinVar
CHD7	Q9P2D1	p.Ser1702Asn	rs370599133	missense variant	-	NC_000008.11:g.60845304G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr1703Arg	rs1236442873	missense variant	-	NC_000008.11:g.60845307C>G	gnomAD
CHD7	Q9P2D1	p.Thr1703Ile	rs1236442873	missense variant	-	NC_000008.11:g.60845307C>T	gnomAD
CHD7	Q9P2D1	p.Pro1705Leu	rs373986410	missense variant	-	NC_000008.11:g.60845313C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro1705Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60845312C>T	NCI-TCGA
CHD7	Q9P2D1	p.Val1706Ala	rs747012110	missense variant	-	NC_000008.11:g.60845316T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Val1706Ter	RCV000623919	frameshift	Inborn genetic diseases	NC_000008.11:g.60845313dup	ClinVar
CHD7	Q9P2D1	p.Gln1708Arg	rs1471711529	missense variant	-	NC_000008.11:g.60845322A>G	gnomAD
CHD7	Q9P2D1	p.Asp1709Val	rs768971850	missense variant	-	NC_000008.11:g.60845325A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1710Val	rs776964640	missense variant	-	NC_000008.11:g.60845328C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1711Glu	rs773655768	missense variant	-	NC_000008.11:g.60845332C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1711Asn	rs748590759	missense variant	-	NC_000008.11:g.60845330G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1711Glu	rs773655768	missense variant	-	NC_000008.11:g.60845332C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1711His	rs748590759	missense variant	-	NC_000008.11:g.60845330G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1714Thr	rs763563180	missense variant	-	NC_000008.11:g.60845339G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1720Gly	rs1231940183	missense variant	-	NC_000008.11:g.60845358C>G	gnomAD
CHD7	Q9P2D1	p.Gln1723Ter	RCV000190754	frameshift	Inborn genetic diseases	NC_000008.11:g.60845366dup	ClinVar
CHD7	Q9P2D1	p.Glu1724Gln	rs773957123	missense variant	-	NC_000008.11:g.60845369G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1725Tyr	rs367616892	missense variant	-	NC_000008.11:g.60845372G>T	ESP
CHD7	Q9P2D1	p.Ser1726Ter	RCV000413631	frameshift	-	NC_000008.11:g.60845376_60845389delinsT	ClinVar
CHD7	Q9P2D1	p.Tyr1727Ter	RCV000352992	nonsense	-	NC_000008.11:g.60845380C>G	ClinVar
CHD7	Q9P2D1	p.Tyr1727Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60845379A>G	NCI-TCGA
CHD7	Q9P2D1	p.Tyr1727Ter	rs398124320	stop gained	-	NC_000008.11:g.60845380C>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Lys1728Arg	rs767264559	missense variant	-	NC_000008.11:g.60845382A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys1732Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60845394A>C	NCI-TCGA
CHD7	Q9P2D1	p.His1734Ter	RCV000198147	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60845398dup	ClinVar
CHD7	Q9P2D1	p.Cys1735Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60845402T>C	NCI-TCGA
CHD7	Q9P2D1	p.Asn1736Ile	rs1189896618	missense variant	-	NC_000008.11:g.60845406A>T	gnomAD
CHD7	Q9P2D1	p.Asn1736Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60845405A>G	NCI-TCGA
CHD7	Q9P2D1	p.Lys1737Arg	rs763879159	missense variant	-	NC_000008.11:g.60845409A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu1739Arg	VAR_068135	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Arg1741His	rs1376563036	missense variant	-	NC_000008.11:g.60848526G>A	gnomAD
CHD7	Q9P2D1	p.Val1742Ile	rs749724087	missense variant	-	NC_000008.11:g.60848528G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Val1742Asp	VAR_072964	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Arg1743His	COSM6007446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60848532G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Met1744Val	rs771183981	missense variant	-	NC_000008.11:g.60848534A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu1745Pro	VAR_069034	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Tyr1746Ter	rs1554603151	stop gained	-	NC_000008.11:g.60848542C>G	-
CHD7	Q9P2D1	p.Tyr1746Ter	RCV000258087	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60848539_60848540dup	ClinVar
CHD7	Q9P2D1	p.Tyr1746Ter	RCV000558253	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60848542C>G	ClinVar
CHD7	Q9P2D1	p.Leu1748Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60848546C>A	NCI-TCGA
CHD7	Q9P2D1	p.Arg1749Ile	rs779276156	missense variant	-	NC_000008.11:g.60848550G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1755Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60848568A>G	NCI-TCGA
CHD7	Q9P2D1	p.Ala1757Thr	rs746364215	missense variant	-	NC_000008.11:g.60848573G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1757Val	rs368747227	missense variant	-	NC_000008.11:g.60848574C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1757Glu	rs368747227	missense variant	-	NC_000008.11:g.60848574C>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1759Glu	rs371988345	missense variant	-	NC_000008.11:g.60848579A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1759Asn	rs768337293	missense variant	-	NC_000008.11:g.60848581G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1759Gln	rs371988345	missense variant	-	NC_000008.11:g.60848579A>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1759Gln	RCV000595997	missense variant	-	NC_000008.11:g.60848579A>C	ClinVar
CHD7	Q9P2D1	p.Lys1759Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60848580A>G	NCI-TCGA
CHD7	Q9P2D1	p.Ile1760Val	rs1467287076	missense variant	-	NC_000008.11:g.60848582A>G	gnomAD
CHD7	Q9P2D1	p.Gly1763Ser	rs774818972	missense variant	-	NC_000008.11:g.60848591G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly1763Cys	rs774818972	missense variant	-	NC_000008.11:g.60848591G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1764Val	rs764957919	missense variant	-	NC_000008.11:g.60848595C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1770Gly	rs766488157	missense variant	-	NC_000008.11:g.60849059A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1770Asn	rs762824174	missense variant	-	NC_000008.11:g.60849058G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1770Gly	RCV000559758	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849059A>G	ClinVar
CHD7	Q9P2D1	p.Asp1770Tyr	rs762824174	missense variant	-	NC_000008.11:g.60849058G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Trp1772Ter	RCV000413976	nonsense	-	NC_000008.11:g.60849065G>A	ClinVar
CHD7	Q9P2D1	p.Trp1772Ter	rs1057517713	stop gained	-	NC_000008.11:g.60849065G>A	-
CHD7	Q9P2D1	p.Glu1775Lys	rs1416086452	missense variant	-	NC_000008.11:g.60849073G>A	gnomAD
CHD7	Q9P2D1	p.Pro1776Arg	rs759486970	missense variant	-	NC_000008.11:g.60849077C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro1776Leu	rs759486970	missense variant	-	NC_000008.11:g.60849077C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.His1778Leu	rs764082970	missense variant	-	NC_000008.11:g.60849083A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1779Val	rs753913368	missense variant	-	NC_000008.11:g.60849086C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1779Gly	rs753913368	missense variant	-	NC_000008.11:g.60849086C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu1780Val	rs1373941657	missense variant	-	NC_000008.11:g.60849089A>T	gnomAD
CHD7	Q9P2D1	p.Val1781Ile	rs1227627378	missense variant	-	NC_000008.11:g.60849091G>A	gnomAD
CHD7	Q9P2D1	p.Asp1784His	rs1291244519	missense variant	-	NC_000008.11:g.60849100G>C	gnomAD
CHD7	Q9P2D1	p.Trp1785Ter	rs1554603276	stop gained	-	NC_000008.11:g.60849105G>A	-
CHD7	Q9P2D1	p.Trp1785Ter	RCV000578165	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60849105G>A	ClinVar
CHD7	Q9P2D1	p.Asp1787Ala	rs1554603278	missense variant	-	NC_000008.11:g.60849110A>C	-
CHD7	Q9P2D1	p.Asp1787Ala	RCV000623035	missense variant	Inborn genetic diseases	NC_000008.11:g.60849110A>C	ClinVar
CHD7	Q9P2D1	p.Glu1789Asp	rs1233584524	missense variant	-	NC_000008.11:g.60849117A>T	gnomAD
CHD7	Q9P2D1	p.Glu1789Gly	rs765474106	missense variant	-	NC_000008.11:g.60849116A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1790Thr	rs750793307	missense variant	-	NC_000008.11:g.60849118G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1791Asn	rs1554603283	missense variant	-	NC_000008.11:g.60849121G>A	-
CHD7	Q9P2D1	p.Asp1791Asn	RCV000535790	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849121G>A	ClinVar
CHD7	Q9P2D1	p.Asp1791Glu	VAR_068136	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Lys1792Arg	rs1305295515	missense variant	-	NC_000008.11:g.60849125A>G	gnomAD
CHD7	Q9P2D1	p.Leu1794Val	rs1554603285	missense variant	-	NC_000008.11:g.60849130C>G	-
CHD7	Q9P2D1	p.Leu1794Pro	RCV000484354	missense variant	-	NC_000008.11:g.60849131T>C	ClinVar
CHD7	Q9P2D1	p.Leu1794Ile	COSM486567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60849130C>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu1794Pro	rs1064795943	missense variant	-	NC_000008.11:g.60849131T>C	-
CHD7	Q9P2D1	p.Leu1794Val	RCV000624826	missense variant	Inborn genetic diseases	NC_000008.11:g.60849130C>G	ClinVar
CHD7	Q9P2D1	p.Ile1796Asn	RCV000624066	missense variant	Inborn genetic diseases	NC_000008.11:g.60849137T>A	ClinVar
CHD7	Q9P2D1	p.Ile1796Asn	rs1554603290	missense variant	-	NC_000008.11:g.60849137T>A	-
CHD7	Q9P2D1	p.Gly1797Arg	RCV000705652	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849139G>A	ClinVar
CHD7	Q9P2D1	p.Gly1797Ala	RCV000372174	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60849140G>C	ClinVar
CHD7	Q9P2D1	p.Gly1797Ala	rs780597592	missense variant	-	NC_000008.11:g.60849140G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly1797Ala	RCV000282364	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849140G>C	ClinVar
CHD7	Q9P2D1	p.Gly1797Val	VAR_068403	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Lys1800Arg	rs1481262806	missense variant	-	NC_000008.11:g.60849149A>G	gnomAD
CHD7	Q9P2D1	p.Lys1800Thr	RCV000722727	missense variant	-	NC_000008.11:g.60849149A>C	ClinVar
CHD7	Q9P2D1	p.His1801Asn	rs1131692039	missense variant	-	NC_000008.11:g.60849151C>A	-
CHD7	Q9P2D1	p.His1801Asn	RCV000494710	missense variant	Kallmann syndrome 5 (KAL5)	NC_000008.11:g.60849151C>A	ClinVar
CHD7	Q9P2D1	p.Gly1802Ser	rs1554603293	missense variant	-	NC_000008.11:g.60849154G>A	-
CHD7	Q9P2D1	p.Gly1802Ser	RCV000578161	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60849154G>A	ClinVar
CHD7	Q9P2D1	p.Gly1802Asp	VAR_068137	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Tyr1803Ter	rs1021645395	stop gained	-	NC_000008.11:g.60850497T>G	TOPMed
CHD7	Q9P2D1	p.Tyr1803Ter	RCV000578169	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60850497T>G	ClinVar
CHD7	Q9P2D1	p.Glu1804Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60850498G>A	NCI-TCGA
CHD7	Q9P2D1	p.Tyr1806Ter	RCV000002102	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60850506C>G	ClinVar
CHD7	Q9P2D1	p.Tyr1806Ter	rs121434340	stop gained	-	NC_000008.11:g.60850506C>G	-
CHD7	Q9P2D1	p.Asn1807Thr	rs1001632406	missense variant	-	NC_000008.11:g.60850508A>C	TOPMed
CHD7	Q9P2D1	p.Met1809Arg	RCV000622688	missense variant	Inborn genetic diseases	NC_000008.11:g.60850514T>G	ClinVar
CHD7	Q9P2D1	p.Met1809Arg	rs1554603550	missense variant	-	NC_000008.11:g.60850514T>G	-
CHD7	Q9P2D1	p.Arg1810Gln	rs755632561	missense variant	-	NC_000008.11:g.60850517G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1810Ter	RCV000599382	nonsense	-	NC_000008.11:g.60850516C>T	ClinVar
CHD7	Q9P2D1	p.Arg1810Ter	RCV000548285	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60850516C>T	ClinVar
CHD7	Q9P2D1	p.Arg1810Ter	rs1554603552	stop gained	-	NC_000008.11:g.60850516C>T	-
CHD7	Q9P2D1	p.Ala1811Thr	rs777085100	missense variant	-	NC_000008.11:g.60850519G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1812His	VAR_068405	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Asp1812Gly	VAR_068404	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Pro1813Leu	rs1317412492	missense variant	-	NC_000008.11:g.60850526C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1814Thr	rs368609862	missense variant	-	NC_000008.11:g.60850528G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1814Thr	RCV000390634	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60850528G>A	ClinVar
CHD7	Q9P2D1	p.Ala1814Thr	RCV000825306	missense variant	-	NC_000008.11:g.60850528G>A	ClinVar
CHD7	Q9P2D1	p.Ala1814Thr	RCV000337409	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60850528G>A	ClinVar
CHD7	Q9P2D1	p.Leu1815Pro	VAR_033248	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Cys1816Ser	rs570691119	missense variant	-	NC_000008.11:g.60850535G>C	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Cys1816Ser	RCV000722654	missense variant	-	NC_000008.11:g.60850534T>A	ClinVar
CHD7	Q9P2D1	p.Cys1816Ser	RCV000793557	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60850534T>A	ClinVar
CHD7	Q9P2D1	p.Cys1816Tyr	rs570691119	missense variant	-	NC_000008.11:g.60850535G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe1817Cys	RCV000145676	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60850538T>G	ClinVar
CHD7	Q9P2D1	p.Phe1817Cys	rs587783445	missense variant	-	NC_000008.11:g.60850538T>G	-
CHD7	Q9P2D1	p.Leu1818Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60850540C>G	NCI-TCGA
CHD7	Q9P2D1	p.Arg1820Gln	rs372644599	missense variant	-	NC_000008.11:g.60850547G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1820Gln	RCV000472945	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60850547G>A	ClinVar
CHD7	Q9P2D1	p.Arg1820Ter	RCV000145677	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60850546C>T	ClinVar
CHD7	Q9P2D1	p.Arg1820Ter	rs587783446	stop gained	-	NC_000008.11:g.60850546C>T	gnomAD
CHD7	Q9P2D1	p.Arg1820Ter	RCV000275479	nonsense	-	NC_000008.11:g.60850546C>T	ClinVar
CHD7	Q9P2D1	p.Gly1822Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60850552G>A	NCI-TCGA
CHD7	Q9P2D1	p.Met1823Val	rs769931428	missense variant	-	NC_000008.11:g.60850555A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1825Tyr	rs1218284722	missense variant	-	NC_000008.11:g.60850561G>T	gnomAD
CHD7	Q9P2D1	p.Asp1825Asn	rs1218284722	missense variant	-	NC_000008.11:g.60850561G>A	gnomAD
CHD7	Q9P2D1	p.Glu1832Lys	rs763196772	missense variant	-	NC_000008.11:g.60850582G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu1832Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60850582G>T	NCI-TCGA
CHD7	Q9P2D1	p.Arg1834Lys	rs1454656715	missense variant	-	NC_000008.11:g.60850589G>A	gnomAD
CHD7	Q9P2D1	p.Arg1834Gly	rs751973003	missense variant	-	NC_000008.11:g.60850588A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr1836Ala	rs1157866817	missense variant	-	NC_000008.11:g.60850594A>G	gnomAD
CHD7	Q9P2D1	p.Asp1837Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60850597G>A	NCI-TCGA
CHD7	Q9P2D1	p.Met1838Val	rs759918327	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60850600A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Met1838Val	VAR_072965	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60850600A>G	UniProt
CHD7	Q9P2D1	p.Met1838Val	rs759918327	missense variant	-	NC_000008.11:g.60850600A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Met1838Ile	rs374602567	missense variant	-	NC_000008.11:g.60850602G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1840Val	rs1318615046	missense variant	-	NC_000008.11:g.60850607C>T	gnomAD
CHD7	Q9P2D1	p.Asp1841His	rs1174618255	missense variant	-	NC_000008.11:g.60850609G>C	TOPMed
CHD7	Q9P2D1	p.Asp1844Asn	rs756508860	missense variant	-	NC_000008.11:g.60850618G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly1845Ala	rs985812567	missense variant	-	NC_000008.11:g.60850622G>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly1845Arg	RCV000782253	missense variant	-	NC_000008.11:g.60850621G>A	ClinVar
CHD7	Q9P2D1	p.Gly1845Glu	rs985812567	missense variant	-	NC_000008.11:g.60850622G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly1845Arg	rs753347128	missense variant	-	NC_000008.11:g.60850621G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly1845Arg	rs753347128	missense variant	-	NC_000008.11:g.60850621G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu1847Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60851036G>A	NCI-TCGA
CHD7	Q9P2D1	p.Arg1850Gly	rs767925312	missense variant	-	NC_000008.11:g.60851045A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu1851Ter	rs587783447	stop gained	-	NC_000008.11:g.60851048G>T	-
CHD7	Q9P2D1	p.Glu1851Ter	RCV000145678	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60851048G>T	ClinVar
CHD7	Q9P2D1	p.Pro1855Ser	rs563402803	missense variant	-	NC_000008.11:g.60851060C>T	1000Genomes
CHD7	Q9P2D1	p.Glu1856Ala	rs761265156	missense variant	-	NC_000008.11:g.60851064A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Tyr1857His	rs1439526686	missense variant	-	NC_000008.11:g.60851066T>C	gnomAD
CHD7	Q9P2D1	p.Pro1859Ser	rs1182352756	missense variant	-	NC_000008.11:g.60851072C>T	gnomAD
CHD7	Q9P2D1	p.Thr1862Lys	rs764673467	missense variant	-	NC_000008.11:g.60851082C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro1863Leu	rs753437069	missense variant	-	NC_000008.11:g.60851085C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe1864Leu	rs201937995	missense variant	-	NC_000008.11:g.60851087T>C	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Asp1866Gly	VAR_068138	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Ile1868Leu	rs940237329	missense variant	-	NC_000008.11:g.60851099A>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile1868Val	rs940237329	missense variant	-	NC_000008.11:g.60851099A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile1868Met	COSM1100843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60851101A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu1870Gln	rs1315226690	missense variant	-	NC_000008.11:g.60851262G>C	gnomAD
CHD7	Q9P2D1	p.Asn1873Asp	rs1403279129	missense variant	-	NC_000008.11:g.60851271A>G	gnomAD
CHD7	Q9P2D1	p.Pro1875Ser	rs762351985	missense variant	-	NC_000008.11:g.60851277C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser1876Leu	rs865985700	missense variant	-	NC_000008.11:g.60851281C>T	TOPMed
CHD7	Q9P2D1	p.Ser1876Ter	rs865985700	stop gained	-	NC_000008.11:g.60851281C>A	TOPMed
CHD7	Q9P2D1	p.Glu1877Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60851285G>T	NCI-TCGA
CHD7	Q9P2D1	p.Glu1877Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60851283G>C	NCI-TCGA
CHD7	Q9P2D1	p.Asp1878Val	rs749861487	missense variant	-	NC_000008.11:g.60851287A>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1878Asn	COSM1100846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60851286G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp1878Gly	rs749861487	missense variant	-	NC_000008.11:g.60851287A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1878Gly	RCV000483542	missense variant	-	NC_000008.11:g.60851287A>G	ClinVar
CHD7	Q9P2D1	p.Asp1878Gly	RCV000351953	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60851287A>G	ClinVar
CHD7	Q9P2D1	p.Asp1878Gly	RCV000311193	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60851287A>G	ClinVar
CHD7	Q9P2D1	p.Lys1879Asn	rs868111459	missense variant	-	NC_000008.11:g.60851291G>T	gnomAD
CHD7	Q9P2D1	p.Glu1880Ter	RCV000195102	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60851292dup	ClinVar
CHD7	Q9P2D1	p.Met1883Thr	rs904483064	missense variant	-	NC_000008.11:g.60851302T>C	TOPMed
CHD7	Q9P2D1	p.Ile1885Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60851309A>G	NCI-TCGA
CHD7	Q9P2D1	p.His1886Asp	rs1302701568	missense variant	-	NC_000008.11:g.60851310C>G	gnomAD
CHD7	Q9P2D1	p.His1886Arg	rs1345679614	missense variant	-	NC_000008.11:g.60851311A>G	gnomAD
CHD7	Q9P2D1	p.Ala1887Asp	rs1212851730	missense variant	-	NC_000008.11:g.60851314C>A	gnomAD
CHD7	Q9P2D1	p.Ala1887Gly	RCV000717419	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60851314C>G	ClinVar
CHD7	Q9P2D1	p.Thr1888Arg	rs1000527974	missense variant	-	NC_000008.11:g.60851317C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly1889Asp	rs1040512288	missense variant	-	NC_000008.11:g.60852019G>A	gnomAD
CHD7	Q9P2D1	p.Gly1889Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60851319G>T	NCI-TCGA
CHD7	Q9P2D1	p.Glu1893Gly	rs765797160	missense variant	-	NC_000008.11:g.60852031A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser1894Gly	rs772816963	missense variant	-	NC_000008.11:g.60852033A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser1894Ter	RCV000578387	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60852031_60852032AG[3]	ClinVar
CHD7	Q9P2D1	p.Asn1895Ser	rs762345019	missense variant	-	NC_000008.11:g.60852037A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu1897Lys	rs766110936	missense variant	-	NC_000008.11:g.60852042G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu1898Val	rs1294090615	missense variant	-	NC_000008.11:g.60852045T>G	gnomAD
CHD7	Q9P2D1	p.Tyr1902Ter	rs1131692325	stop gained	-	NC_000008.11:g.60852059C>G	-
CHD7	Q9P2D1	p.Tyr1902Ter	RCV000496025	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852059C>G	ClinVar
CHD7	Q9P2D1	p.Tyr1902Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60852059C>A	NCI-TCGA
CHD7	Q9P2D1	p.Asn1905Asp	rs1244745262	missense variant	-	NC_000008.11:g.60852066A>G	TOPMed
CHD7	Q9P2D1	p.Thr1906Ser	rs1389567181	missense variant	-	NC_000008.11:g.60852070C>G	gnomAD
CHD7	Q9P2D1	p.Ser1907Pro	rs1308890903	missense variant	-	NC_000008.11:g.60852072T>C	gnomAD
CHD7	Q9P2D1	p.Ser1907Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852073C>T	NCI-TCGA
CHD7	Q9P2D1	p.Thr1908Pro	RCV000691946	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852075A>C	ClinVar
CHD7	Q9P2D1	p.Thr1908Asn	rs1313352713	missense variant	-	NC_000008.11:g.60852076C>A	TOPMed
CHD7	Q9P2D1	p.Thr1908Pro	rs1329534393	missense variant	-	NC_000008.11:g.60852075A>C	gnomAD
CHD7	Q9P2D1	p.Leu1909Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852078C>A	NCI-TCGA
CHD7	Q9P2D1	p.Arg1912His	rs767326758	missense variant	-	NC_000008.11:g.60852088G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1912Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852087C>T	NCI-TCGA
CHD7	Q9P2D1	p.Arg1912Gly	VAR_072966	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
CHD7	Q9P2D1	p.Arg1914Cys	rs373823856	missense variant	-	NC_000008.11:g.60852093C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1914His	COSM1100849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852094G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg1915Gln	rs1024600310	missense variant	-	NC_000008.11:g.60852097G>A	TOPMed
CHD7	Q9P2D1	p.Thr1918Ala	rs1303600577	missense variant	-	NC_000008.11:g.60852105A>G	gnomAD
CHD7	Q9P2D1	p.Thr1918Ter	RCV000002107	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60852105dup	ClinVar
CHD7	Q9P2D1	p.Ala1919Gly	rs780114797	missense variant	-	NC_000008.11:g.60852109C>G	ExAC
CHD7	Q9P2D1	p.Ala1919Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852109C>T	NCI-TCGA
CHD7	Q9P2D1	p.Tyr1920Cys	rs768950252	missense variant	-	NC_000008.11:g.60852112A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Tyr1920Cys	RCV000308674	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852112A>G	ClinVar
CHD7	Q9P2D1	p.Tyr1920Cys	RCV000358777	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60852112A>G	ClinVar
CHD7	Q9P2D1	p.Arg1922Cys	rs1424250593	missense variant	-	NC_000008.11:g.60852117C>T	TOPMed
CHD7	Q9P2D1	p.Arg1922His	rs1415922203	missense variant	-	NC_000008.11:g.60852118G>A	gnomAD
CHD7	Q9P2D1	p.Tyr1924Ser	rs769144470	missense variant	-	NC_000008.11:g.60852124A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys1925Glu	rs959102773	missense variant	-	NC_000008.11:g.60852126A>G	-
CHD7	Q9P2D1	p.Arg1926Lys	rs770379195	missense variant	-	NC_000008.11:g.60852130G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1926Thr	rs770379195	missense variant	-	NC_000008.11:g.60852130G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln1928Leu	COSM2152177	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852136A>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Met1929Thr	rs1363962894	missense variant	-	NC_000008.11:g.60852139T>C	TOPMed
CHD7	Q9P2D1	p.Arg1930Lys	rs535347450	missense variant	-	NC_000008.11:g.60852142G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1931Glu	rs762587324	missense variant	-	NC_000008.11:g.60852144C>G	ExAC
CHD7	Q9P2D1	p.Glu1932Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852148A>C	NCI-TCGA
CHD7	Q9P2D1	p.Ala1933Asp	rs773867024	missense variant	-	NC_000008.11:g.60852151C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1933Thr	rs1418642683	missense variant	-	NC_000008.11:g.60852150G>A	TOPMed
CHD7	Q9P2D1	p.Leu1934GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60852154T>-	NCI-TCGA
CHD7	Q9P2D1	p.Arg1939Gly	rs992024213	missense variant	-	NC_000008.11:g.60852168C>G	TOPMed
CHD7	Q9P2D1	p.Arg1939Trp	rs992024213	missense variant	-	NC_000008.11:g.60852168C>T	TOPMed
CHD7	Q9P2D1	p.Arg1939Gln	rs1024797402	missense variant	-	NC_000008.11:g.60852169G>A	gnomAD
CHD7	Q9P2D1	p.Arg1940Cys	rs752539596	missense variant	-	NC_000008.11:g.60852171C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1942Trp	RCV000634442	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852177C>T	ClinVar
CHD7	Q9P2D1	p.Arg1942Gln	rs1203117062	missense variant	-	NC_000008.11:g.60852178G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1942Trp	rs200441929	missense variant	-	NC_000008.11:g.60852177C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1942Trp	RCV000719861	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60852177C>T	ClinVar
CHD7	Q9P2D1	p.Arg1942Trp	RCV000729031	missense variant	-	NC_000008.11:g.60852177C>T	ClinVar
CHD7	Q9P2D1	p.Arg1943Gln	rs753723769	missense variant	-	NC_000008.11:g.60852181G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1943Trp	rs764160601	missense variant	-	NC_000008.11:g.60852180C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1943Gln	RCV000351337	missense variant	-	NC_000008.11:g.60852181G>A	ClinVar
CHD7	Q9P2D1	p.Arg1945Pro	rs374040699	missense variant	-	NC_000008.11:g.60852187G>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1945Gln	rs374040699	missense variant	-	NC_000008.11:g.60852187G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1945Ter	rs757160222	stop gained	-	NC_000008.11:g.60852186C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1945Gly	rs757160222	missense variant	-	NC_000008.11:g.60852186C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg1945Ter	RCV000258138	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852186C>T	ClinVar
CHD7	Q9P2D1	p.Arg1945Ter	RCV000414205	nonsense	-	NC_000008.11:g.60852186C>T	ClinVar
CHD7	Q9P2D1	p.Val1948Met	COSM4911370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852195G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Val1948Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852196T>C	NCI-TCGA
CHD7	Q9P2D1	p.Arg1949Gly	rs961305288	missense variant	-	NC_000008.11:g.60852198A>G	gnomAD
CHD7	Q9P2D1	p.Ala1950Thr	RCV000717065	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60852201G>A	ClinVar
CHD7	Q9P2D1	p.Ala1950Val	rs1418971578	missense variant	-	NC_000008.11:g.60852202C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1950Thr	rs201423234	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852201G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Ala1950Thr	VAR_068139	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852201G>A	UniProt
CHD7	Q9P2D1	p.Ala1950Thr	rs201423234	missense variant	-	NC_000008.11:g.60852201G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu1952Asp	rs755290171	missense variant	-	NC_000008.11:g.60852209A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1953Thr	rs781540403	missense variant	-	NC_000008.11:g.60852210G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala1953Val	rs748578338	missense variant	-	NC_000008.11:g.60852211C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu1954Asp	rs1360623669	missense variant	-	NC_000008.11:g.60852215A>C	gnomAD
CHD7	Q9P2D1	p.Arg1955Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852218G>T	NCI-TCGA
CHD7	Q9P2D1	p.Ile1959Thr	rs778128475	missense variant	-	NC_000008.11:g.60852229T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser1960Cys	rs749786629	missense variant	-	NC_000008.11:g.60852232C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser1960Tyr	rs749786629	missense variant	-	NC_000008.11:g.60852232C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser1960Phe	rs749786629	missense variant	-	NC_000008.11:g.60852232C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys1962Glu	rs1191184806	missense variant	-	NC_000008.11:g.60852237A>G	gnomAD
CHD7	Q9P2D1	p.Arg1963Gln	rs550425758	missense variant	-	NC_000008.11:g.60852241G>A	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1963Pro	rs550425758	missense variant	-	NC_000008.11:g.60852241G>C	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Arg1963Trp	rs370280397	missense variant	-	NC_000008.11:g.60852240C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Trp1966Cys	COSM1314140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852501G>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ala1972Gly	rs1013310877	missense variant	-	NC_000008.11:g.60852518C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala1972Ser	rs1210754705	missense variant	-	NC_000008.11:g.60852517G>T	gnomAD
CHD7	Q9P2D1	p.Arg1976Cys	COSM1100852	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852529C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg1976His	rs774925185	missense variant	-	NC_000008.11:g.60852530G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Val1978Ile	rs1386245550	missense variant	-	NC_000008.11:g.60852535G>A	TOPMed
CHD7	Q9P2D1	p.Ser1979Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852538T>C	NCI-TCGA
CHD7	Q9P2D1	p.Gly1982Glu	COSM3650080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852548G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly1982Trp	RCV000770777	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852547G>T	ClinVar
CHD7	Q9P2D1	p.Ile1984Met	rs1183427297	missense variant	-	NC_000008.11:g.60852555T>G	TOPMed
CHD7	Q9P2D1	p.Pro1987Ter	RCV000497324	frameshift	-	NC_000008.11:g.60852563del	ClinVar
CHD7	Q9P2D1	p.Pro1987Ser	rs1478284862	missense variant	-	NC_000008.11:g.60852562C>T	gnomAD
CHD7	Q9P2D1	p.Lys1989Arg	rs1157811368	missense variant	-	NC_000008.11:g.60852569A>G	gnomAD
CHD7	Q9P2D1	p.Gln1990Ter	RCV000579248	nonsense	-	NC_000008.11:g.60852571C>T	ClinVar
CHD7	Q9P2D1	p.Gln1990Ter	rs1554603970	stop gained	-	NC_000008.11:g.60852571C>T	-
CHD7	Q9P2D1	p.Gln1991Ter	RCV000728953	nonsense	-	NC_000008.11:g.60852574C>T	ClinVar
CHD7	Q9P2D1	p.Asp1993His	COSM4827146	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852580G>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp1993Asn	rs776329773	missense variant	-	NC_000008.11:g.60852580G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp1993Val	rs1393186449	missense variant	-	NC_000008.11:g.60852581A>T	gnomAD
CHD7	Q9P2D1	p.Asp1993Tyr	rs776329773	missense variant	-	NC_000008.11:g.60852580G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln1996Glu	rs761645571	missense variant	-	NC_000008.11:g.60852589C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Phe1997Leu	rs1205740831	missense variant	-	NC_000008.11:g.60852594T>G	TOPMed
CHD7	Q9P2D1	p.Arg1998Lys	rs1333355867	missense variant	-	NC_000008.11:g.60852596G>A	gnomAD
CHD7	Q9P2D1	p.Ala1999Thr	RCV000482290	missense variant	-	NC_000008.11:g.60852598G>A	ClinVar
CHD7	Q9P2D1	p.Ala1999Thr	rs1064794548	missense variant	-	NC_000008.11:g.60852598G>A	gnomAD
CHD7	Q9P2D1	p.Ala2001Thr	rs1485572552	missense variant	-	NC_000008.11:g.60852604G>A	TOPMed
CHD7	Q9P2D1	p.Arg2002Lys	rs1279344012	missense variant	-	NC_000008.11:g.60852608G>A	gnomAD
CHD7	Q9P2D1	p.Leu2003Phe	rs765321307	missense variant	-	NC_000008.11:g.60852610C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser2007Tyr	rs762913963	missense variant	-	NC_000008.11:g.60852623C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2009Lys	rs1334324535	missense variant	-	NC_000008.11:g.60852628G>A	gnomAD
CHD7	Q9P2D1	p.Ser2010Ile	rs767713860	missense variant	-	NC_000008.11:g.60852632G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2012Lys	rs904822604	missense variant	-	NC_000008.11:g.60852637G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys2013Thr	COSM1100855	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852641A>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Phe2015Leu	rs371849073	missense variant	-	NC_000008.11:g.60852648C>G	ESP
CHD7	Q9P2D1	p.Ala2020Val	rs756335050	missense variant	-	NC_000008.11:g.60852662C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2023Met	rs764358718	missense variant	-	NC_000008.11:g.60852671G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2024Gln	rs1473449001	missense variant	-	NC_000008.11:g.60852674G>A	gnomAD
CHD7	Q9P2D1	p.Arg2024Ter	rs1360515765	stop gained	-	NC_000008.11:g.60852673C>T	TOPMed
CHD7	Q9P2D1	p.Arg2024Gly	rs1360515765	missense variant	-	NC_000008.11:g.60852673C>G	TOPMed
CHD7	Q9P2D1	p.Arg2024Ter	RCV000659301	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852673C>T	ClinVar
CHD7	Q9P2D1	p.Arg2027Ter	rs886040995	stop gained	-	NC_000008.11:g.60852682C>T	-
CHD7	Q9P2D1	p.Arg2027Gln	RCV000525041	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852683G>A	ClinVar
CHD7	Q9P2D1	p.Arg2027Ter	RCV000330520	nonsense	-	NC_000008.11:g.60852682C>T	ClinVar
CHD7	Q9P2D1	p.Arg2027Gln	rs372077201	missense variant	-	NC_000008.11:g.60852683G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2027Ter	RCV000258088	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852682C>T	ClinVar
CHD7	Q9P2D1	p.Val2030Ile	rs143796440	missense variant	-	NC_000008.11:g.60852691G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2032Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852697C>T	NCI-TCGA
CHD7	Q9P2D1	p.Asp2033His	COSM461417	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852700G>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp2033Gly	rs369023995	missense variant	-	NC_000008.11:g.60852701A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp2034Asn	rs1328762003	missense variant	-	NC_000008.11:g.60852703G>A	gnomAD
CHD7	Q9P2D1	p.Glu2035Ter	RCV000375513	frameshift	-	NC_000008.11:g.60852830del	ClinVar
CHD7	Q9P2D1	p.Pro2036Leu	rs369543203	missense variant	-	NC_000008.11:g.60852832C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2036Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852831C>T	NCI-TCGA
CHD7	Q9P2D1	p.Pro2037Leu	rs754505212	missense variant	-	NC_000008.11:g.60852835C>T	ExAC
CHD7	Q9P2D1	p.Pro2037Ser	rs1284580155	missense variant	-	NC_000008.11:g.60852834C>T	TOPMed
CHD7	Q9P2D1	p.Asp2038Glu	rs1201861726	missense variant	-	NC_000008.11:g.60852839C>A	gnomAD
CHD7	Q9P2D1	p.Asp2038Asn	rs747846723	missense variant	-	NC_000008.11:g.60852837G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp2038Asn	RCV000316754	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852837G>A	ClinVar
CHD7	Q9P2D1	p.Asp2038Asn	RCV000375951	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60852837G>A	ClinVar
CHD7	Q9P2D1	p.Leu2039Phe	rs1344431369	missense variant	-	NC_000008.11:g.60852840C>T	TOPMed
CHD7	Q9P2D1	p.Leu2039Ter	RCV000693442	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60852839_60852845del	ClinVar
CHD7	Q9P2D1	p.Leu2039Ter	RCV000493813	frameshift	-	NC_000008.11:g.60852839_60852845del	ClinVar
CHD7	Q9P2D1	p.Ser2041Cys	rs777755661	missense variant	-	NC_000008.11:g.60852847C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser2041Phe	COSM268043	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852847C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser2041Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60852847C>A	NCI-TCGA
CHD7	Q9P2D1	p.Ile2043Thr	rs1186153905	missense variant	-	NC_000008.11:g.60852853T>C	gnomAD
CHD7	Q9P2D1	p.Pro2045Leu	rs1391407915	missense variant	-	NC_000008.11:g.60852859C>T	gnomAD
CHD7	Q9P2D1	p.Thr2047Ser	rs774344042	missense variant	-	NC_000008.11:g.60852864A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2048Ter	RCV000623241	frameshift	Inborn genetic diseases	NC_000008.11:g.60852866_60852867AG[1]	ClinVar
CHD7	Q9P2D1	p.Arg2050Ter	rs886040996	stop gained	-	NC_000008.11:g.60852873C>T	-
CHD7	Q9P2D1	p.Arg2050Ter	RCV000258113	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852873C>T	ClinVar
CHD7	Q9P2D1	p.Arg2050Ter	RCV000731505	nonsense	-	NC_000008.11:g.60852873C>T	ClinVar
CHD7	Q9P2D1	p.Ser2052Phe	rs1464832497	missense variant	-	NC_000008.11:g.60852880C>T	gnomAD
CHD7	Q9P2D1	p.Arg2053Gln	COSM3900876	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852883G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg2053Ter	rs587783450	stop gained	-	NC_000008.11:g.60852882C>T	-
CHD7	Q9P2D1	p.Arg2053Ter	RCV000389698	nonsense	-	NC_000008.11:g.60852882C>T	ClinVar
CHD7	Q9P2D1	p.Arg2053Ter	RCV000763601	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852882C>T	ClinVar
CHD7	Q9P2D1	p.Arg2053Ter	RCV000145682	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852882C>T	ClinVar
CHD7	Q9P2D1	p.Leu2055Ter	RCV000475738	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60852886_60852887CT[1]	ClinVar
CHD7	Q9P2D1	p.Leu2055Val	rs1304862038	missense variant	-	NC_000008.11:g.60852888C>G	gnomAD
CHD7	Q9P2D1	p.Tyr2056Ser	rs1189776580	missense variant	-	NC_000008.11:g.60852892A>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Tyr2056Ter	RCV000255893	frameshift	-	NC_000008.11:g.60852890_60852891del	ClinVar
CHD7	Q9P2D1	p.Tyr2056Ser	RCV000719854	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60852892A>C	ClinVar
CHD7	Q9P2D1	p.Arg2057Cys	rs192260844	missense variant	-	NC_000008.11:g.60852894C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2057His	rs1318631549	missense variant	-	NC_000008.11:g.60852895G>A	gnomAD
CHD7	Q9P2D1	p.Ile2058Val	rs1229131453	missense variant	-	NC_000008.11:g.60852897A>G	gnomAD
CHD7	Q9P2D1	p.Glu2059Ter	RCV000438702	nonsense	-	NC_000008.11:g.60852900G>T	ClinVar
CHD7	Q9P2D1	p.Glu2059Ter	rs1057520712	stop gained	-	NC_000008.11:g.60852900G>T	-
CHD7	Q9P2D1	p.Leu2060Val	rs1302545775	missense variant	-	NC_000008.11:g.60852903C>G	gnomAD
CHD7	Q9P2D1	p.Arg2062Gln	rs762055675	missense variant	-	NC_000008.11:g.60852910G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2062Trp	rs886063038	missense variant	-	NC_000008.11:g.60852909C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2062Trp	RCV000485316	missense variant	-	NC_000008.11:g.60852909C>T	ClinVar
CHD7	Q9P2D1	p.Ile2064Val	rs200321575	missense variant	-	NC_000008.11:g.60852915A>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile2064Met	rs1349507815	missense variant	-	NC_000008.11:g.60852917C>G	gnomAD
CHD7	Q9P2D1	p.Arg2065Gly	RCV000480035	missense variant	-	NC_000008.11:g.60852918C>G	ClinVar
CHD7	Q9P2D1	p.Arg2065His	rs1197494895	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852919G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg2065His	VAR_068140	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852919G>A	UniProt
CHD7	Q9P2D1	p.Arg2065His	rs1197494895	missense variant	-	NC_000008.11:g.60852919G>A	TOPMed
CHD7	Q9P2D1	p.Arg2065Gly	rs1064794250	missense variant	-	NC_000008.11:g.60852918C>G	-
CHD7	Q9P2D1	p.Arg2065Cys	VAR_072967	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
CHD7	Q9P2D1	p.Arg2065Ser	VAR_068141	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Glu2066Asp	rs554056146	missense variant	-	NC_000008.11:g.60852923G>C	1000Genomes
CHD7	Q9P2D1	p.Glu2066Gln	rs763289725	missense variant	-	NC_000008.11:g.60852921G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2066Gly	rs1439841156	missense variant	-	NC_000008.11:g.60852922A>G	TOPMed
CHD7	Q9P2D1	p.Gln2067Ter	rs766862122	stop gained	-	NC_000008.11:g.60852924C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln2067Glu	rs766862122	missense variant	-	NC_000008.11:g.60852924C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln2067Ter	RCV000818234	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60852924C>T	ClinVar
CHD7	Q9P2D1	p.Gln2067Glu	RCV000247111	missense variant	-	NC_000008.11:g.60852924C>G	ClinVar
CHD7	Q9P2D1	p.Gln2067Ter	RCV000578551	nonsense	-	NC_000008.11:g.60852924C>T	ClinVar
CHD7	Q9P2D1	p.Leu2069Val	rs752107963	missense variant	-	NC_000008.11:g.60852930C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.His2071Arg	COSM3900877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60852937A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.His2071Gln	rs1337291799	missense variant	-	NC_000008.11:g.60852938C>A	TOPMed
CHD7	Q9P2D1	p.Pro2072Ser	rs780772673	missense variant	-	NC_000008.11:g.60852939C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2072Leu	rs752105151	missense variant	-	NC_000008.11:g.60852940C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2074Pro	VAR_068408	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
CHD7	Q9P2D1	p.Leu2074Pro	VAR_068408	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Glu2076Gln	rs1044805715	missense variant	-	NC_000008.11:g.60852951G>C	TOPMed
CHD7	Q9P2D1	p.Glu2076Lys	rs1044805715	missense variant	-	NC_000008.11:g.60852951G>A	TOPMed
CHD7	Q9P2D1	p.Arg2077Lys	VAR_069035	Missense	-	-	UniProt
CHD7	Q9P2D1	p.Lys2079Thr	rs377497122	missense variant	-	NC_000008.11:g.60852961A>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2080Pro	rs1064796615	missense variant	-	NC_000008.11:g.60852964T>C	-
CHD7	Q9P2D1	p.Leu2080Pro	RCV000479492	missense variant	-	NC_000008.11:g.60852964T>C	ClinVar
CHD7	Q9P2D1	p.Cys2081Ter	rs886041575	stop gained	-	NC_000008.11:g.60852968C>A	-
CHD7	Q9P2D1	p.Cys2081Ter	RCV000283116	nonsense	-	NC_000008.11:g.60852968C>A	ClinVar
CHD7	Q9P2D1	p.Pro2083Ser	RCV000341506	missense variant	-	NC_000008.11:g.60852972C>T	ClinVar
CHD7	Q9P2D1	p.Pro2083Leu	rs773859400	missense variant	-	NC_000008.11:g.60852973C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2083Ser	rs370972259	missense variant	-	NC_000008.11:g.60852972C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2084Asn	rs1053438592	missense variant	-	NC_000008.11:g.60852976G>A	TOPMed
CHD7	Q9P2D1	p.Ser2084Gly	RCV000145683	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852975A>G	ClinVar
CHD7	Q9P2D1	p.Ser2084Gly	rs201083157	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852975A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Ser2084Gly	VAR_068142	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60852975A>G	UniProt
CHD7	Q9P2D1	p.Ser2084Gly	rs201083157	missense variant	-	NC_000008.11:g.60852975A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2085Phe	rs561398606	missense variant	-	NC_000008.11:g.60852980G>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2085Phe	RCV000473893	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60852980G>T	ClinVar
CHD7	Q9P2D1	p.Asp2086Val	rs748203271	missense variant	-	NC_000008.11:g.60852982A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Trp2091Arg	VAR_068409	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Glu2092Asp	rs2068096	missense variant	-	NC_000008.11:g.60853001G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Cys2093Tyr	rs766776212	missense variant	-	NC_000008.11:g.60853003G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Cys2093Tyr	RCV000458917	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853003G>A	ClinVar
CHD7	Q9P2D1	p.Arg2095Trp	rs760116437	missense variant	-	NC_000008.11:g.60853008C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2095Gln	rs773114816	missense variant	-	NC_000008.11:g.60853009G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.His2096Leu	COSM1457734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853012A>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.His2096Arg	rs587783451	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60853012A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.His2096Arg	VAR_033249	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60853012A>G	UniProt
CHD7	Q9P2D1	p.His2096Arg	rs587783451	missense variant	-	NC_000008.11:g.60853012A>G	-
CHD7	Q9P2D1	p.His2096Tyr	rs752317345	missense variant	-	NC_000008.11:g.60853011C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.His2096Arg	RCV000145684	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853012A>G	ClinVar
CHD7	Q9P2D1	p.Asp2097Gly	VAR_068410	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Arg2098Ter	RCV000474707	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853017del	ClinVar
CHD7	Q9P2D1	p.Arg2098Ter	RCV000623636	nonsense	Inborn genetic diseases	NC_000008.11:g.60853017C>T	ClinVar
CHD7	Q9P2D1	p.Arg2098Ter	RCV000211558	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60853017C>T	ClinVar
CHD7	Q9P2D1	p.Arg2098Gln	rs375199214	missense variant	-	NC_000008.11:g.60853018G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2098Ter	rs875989879	stop gained	-	NC_000008.11:g.60853017C>T	-
CHD7	Q9P2D1	p.Asp2099Gly	rs763634286	missense variant	-	NC_000008.11:g.60853021A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Val2102Phe	RCV000414671	missense variant	-	NC_000008.11:g.60853029G>T	ClinVar
CHD7	Q9P2D1	p.Val2102Phe	RCV000462388	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853029G>T	ClinVar
CHD7	Q9P2D1	p.Val2102Gly	rs368145189	missense variant	-	NC_000008.11:g.60853030T>G	ESP
CHD7	Q9P2D1	p.Val2102Phe	rs753559567	missense variant	-	NC_000008.11:g.60853029G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2102Ile	VAR_068411	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Gly2103Asp	RCV000177571	missense variant	-	NC_000008.11:g.60853033G>A	ClinVar
CHD7	Q9P2D1	p.Gly2103Asp	rs794727555	missense variant	-	NC_000008.11:g.60853033G>A	-
CHD7	Q9P2D1	p.Gly2103Asp	RCV000685996	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853033G>A	ClinVar
CHD7	Q9P2D1	p.Ala2104Val	COSM4917553	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853036C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ala2105Val	rs756812977	missense variant	-	NC_000008.11:g.60853039C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys2106Gln	rs371785675	missense variant	-	NC_000008.11:g.60853041A>C	ESP
CHD7	Q9P2D1	p.Gly2108Arg	RCV000002110	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853047G>A	ClinVar
CHD7	Q9P2D1	p.Gly2108Arg	rs121434343	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60853047G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Gly2108Arg	VAR_068144	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60853047G>A	UniProt
CHD7	Q9P2D1	p.Gly2108Arg	rs121434343	missense variant	-	NC_000008.11:g.60853047G>A	-
CHD7	Q9P2D1	p.Gly2108Trp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853047G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly2108Trp	VAR_078703	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Arg2111Gln	rs1407743636	missense variant	-	NC_000008.11:g.60853057G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2112Met	rs758409717	missense variant	-	NC_000008.11:g.60853060C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2112Met	rs758409717	missense variant	-	NC_000008.11:g.60853060C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Thr2112Met	VAR_068412	missense variant	-	NC_000008.11:g.60853060C>T	UniProt
CHD7	Q9P2D1	p.Asp2113His	rs1184060590	missense variant	-	NC_000008.11:g.60853062G>C	gnomAD
CHD7	Q9P2D1	p.Tyr2114Asp	rs1232231607	missense variant	-	NC_000008.11:g.60853065T>G	gnomAD
CHD7	Q9P2D1	p.His2115Tyr	rs375072758	missense variant	-	NC_000008.11:g.60853068C>T	ESP
CHD7	Q9P2D1	p.Ile2116Val	rs1309976352	missense variant	-	NC_000008.11:g.60853071A>G	gnomAD
CHD7	Q9P2D1	p.Ile2116Asn	VAR_068145	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Leu2117Phe	rs367733295	missense variant	-	NC_000008.11:g.60853074C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2118Ser	RCV000266545	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853078A>G	ClinVar
CHD7	Q9P2D1	p.Asn2118Asp	COSM1457736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853077A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn2118Ser	rs199614124	missense variant	-	NC_000008.11:g.60853078A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2118GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60853076_60853077insCAGCTTTTCCTCTTCATCCTCTTCGG	NCI-TCGA
CHD7	Q9P2D1	p.Asn2118Asp	VAR_068413	Missense	-	-	UniProt
CHD7	Q9P2D1	p.Asp2119Gly	rs587783452	missense variant	-	NC_000008.11:g.60853081A>G	-
CHD7	Q9P2D1	p.Asp2119Gly	RCV000145685	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853081A>G	ClinVar
CHD7	Q9P2D1	p.Asp2119Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853080G>A	NCI-TCGA
CHD7	Q9P2D1	p.Pro2120Ala	rs375490876	missense variant	-	NC_000008.11:g.60853083C>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2123Phe	COSM3650081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853093C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp2126Val	rs1064794182	missense variant	-	NC_000008.11:g.60853102A>T	-
CHD7	Q9P2D1	p.Asp2126His	rs1162346018	missense variant	-	NC_000008.11:g.60853101G>C	-
CHD7	Q9P2D1	p.Asp2126Val	RCV000486326	missense variant	-	NC_000008.11:g.60853102A>T	ClinVar
CHD7	Q9P2D1	p.Ala2127Thr	rs774815426	missense variant	-	NC_000008.11:g.60853104G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.His2128Arg	rs759810386	missense variant	-	NC_000008.11:g.60853108A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.His2128Gln	rs1425597358	missense variant	-	NC_000008.11:g.60853109T>G	gnomAD
CHD7	Q9P2D1	p.Asn2130Ile	rs768141725	missense variant	-	NC_000008.11:g.60853114A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn2130ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60853110A>-	NCI-TCGA
CHD7	Q9P2D1	p.Phe2131Cys	rs776147854	missense variant	-	NC_000008.11:g.60853117T>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2132Gly	rs761209237	missense variant	-	NC_000008.11:g.60853120C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2132Asp	rs761209237	missense variant	-	NC_000008.11:g.60853120C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln2133Lys	rs1370877838	missense variant	-	NC_000008.11:g.60853122C>A	gnomAD
CHD7	Q9P2D1	p.Asn2134Ser	rs753361097	missense variant	-	NC_000008.11:g.60853126A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2136Glu	RCV000768181	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853132G>A	ClinVar
CHD7	Q9P2D1	p.Gly2136Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853131G>A	NCI-TCGA
CHD7	Q9P2D1	p.Ala2137Val	COSM1100858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853135C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn2139Asp	rs1163134257	missense variant	-	NC_000008.11:g.60853140A>G	gnomAD
CHD7	Q9P2D1	p.Thr2140Ile	rs997501560	missense variant	-	NC_000008.11:g.60853144C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2142Phe	COSM4399308	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853150C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn2144Ser	rs1228375112	missense variant	-	NC_000008.11:g.60853156A>G	gnomAD
CHD7	Q9P2D1	p.Pro2145Ala	rs1332199774	missense variant	-	NC_000008.11:g.60853158C>G	TOPMed
CHD7	Q9P2D1	p.Leu2146Pro	rs794727554	missense variant	-	NC_000008.11:g.60853162T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2146Pro	RCV000177568	missense variant	-	NC_000008.11:g.60853162T>C	ClinVar
CHD7	Q9P2D1	p.Ala2147Thr	rs551619917	missense variant	-	NC_000008.11:g.60853164G>A	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2149Val	rs369433978	missense variant	-	NC_000008.11:g.60853171G>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2149Glu	rs369433978	missense variant	-	NC_000008.11:g.60853171G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2149Ter	RCV000193810	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853171del	ClinVar
CHD7	Q9P2D1	p.Gln2152Ter	RCV000760702	nonsense	-	NC_000008.11:g.60853179C>T	ClinVar
CHD7	Q9P2D1	p.Gln2152Glu	rs373241264	missense variant	-	NC_000008.11:g.60853179C>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln2152His	rs746961760	missense variant	-	NC_000008.11:g.60853181G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro2155Leu	rs754858730	missense variant	-	NC_000008.11:g.60853189C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile2157Val	rs886063039	missense variant	-	NC_000008.11:g.60853194A>G	gnomAD
CHD7	Q9P2D1	p.Ile2157Val	RCV000298183	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60853194A>G	ClinVar
CHD7	Q9P2D1	p.Ile2157Val	RCV000353074	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60853194A>G	ClinVar
CHD7	Q9P2D1	p.Ser2158Ter	RCV000554486	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60853198C>A	ClinVar
CHD7	Q9P2D1	p.Ser2158Leu	rs376056567	missense variant	-	NC_000008.11:g.60853198C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2158Ter	rs376056567	stop gained	-	NC_000008.11:g.60853198C>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2158Ter	RCV000704736	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853198del	ClinVar
CHD7	Q9P2D1	p.Ser2159Pro	rs1173583013	missense variant	-	NC_000008.11:g.60853200T>C	gnomAD
CHD7	Q9P2D1	p.Ser2159Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853201C>G	NCI-TCGA
CHD7	Q9P2D1	p.Ala2160Thr	rs61753399	missense variant	-	NC_000008.11:g.60853203G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Ala2160Thr	VAR_068146	missense variant	-	NC_000008.11:g.60853203G>A	UniProt
CHD7	Q9P2D1	p.Ala2160Thr	rs61753399	missense variant	-	NC_000008.11:g.60853203G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2160Thr	RCV000716492	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60853203G>A	ClinVar
CHD7	Q9P2D1	p.His2161Gln	rs185505138	missense variant	-	NC_000008.11:g.60853208T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.His2161GluPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60853204_60853205insAGAATGCCCTTGAATTCTCCCCAAG	NCI-TCGA
CHD7	Q9P2D1	p.Ile2162Thr	rs1362379706	missense variant	-	NC_000008.11:g.60853210T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2165Gly	rs775949500	missense variant	-	NC_000008.11:g.60853219A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2166Lys	rs761297110	missense variant	-	NC_000008.11:g.60853222G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Val2167Ile	rs971937875	missense variant	-	NC_000008.11:g.60853224G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2169Lys	rs1219028832	missense variant	-	NC_000008.11:g.60853230G>A	gnomAD
CHD7	Q9P2D1	p.Gln2170Lys	rs769254949	missense variant	-	NC_000008.11:g.60853233C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2172Lys	rs761214775	missense variant	-	NC_000008.11:g.60853239G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2173Asp	rs1247555658	missense variant	-	NC_000008.11:g.60853243G>A	gnomAD
CHD7	Q9P2D1	p.Lys2174Arg	rs1227286217	missense variant	-	NC_000008.11:g.60853246A>G	gnomAD
CHD7	Q9P2D1	p.Lys2174Asn	rs765006109	missense variant	-	NC_000008.11:g.60853247A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Val2175Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853248G>A	NCI-TCGA
CHD7	Q9P2D1	p.Glu2176Lys	rs1190482796	missense variant	-	NC_000008.11:g.60853251G>A	gnomAD
CHD7	Q9P2D1	p.Glu2176Ter	RCV000195205	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853251del	ClinVar
CHD7	Q9P2D1	p.Glu2177Ter	rs750047137	stop gained	-	NC_000008.11:g.60853254G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2177Lys	rs750047137	missense variant	-	NC_000008.11:g.60853254G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2177Ter	RCV000177569	nonsense	-	NC_000008.11:g.60853254G>T	ClinVar
CHD7	Q9P2D1	p.Pro2178Arg	rs1477630480	missense variant	-	NC_000008.11:g.60853258C>G	gnomAD
CHD7	Q9P2D1	p.Pro2181Ser	rs1170596680	missense variant	-	NC_000008.11:g.60853266C>T	gnomAD
CHD7	Q9P2D1	p.Ala2182Asp	rs1426932703	missense variant	-	NC_000008.11:g.60853270C>A	gnomAD
CHD7	Q9P2D1	p.Ala2183Val	rs762607636	missense variant	-	NC_000008.11:g.60853273C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2185Ter	rs549508773	stop gained	-	NC_000008.11:g.60853278G>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2185Val	rs567756521	missense variant	-	NC_000008.11:g.60853279A>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys2186Ile	rs754943887	missense variant	-	NC_000008.11:g.60853282A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Cys2187Gly	rs1436306152	missense variant	-	NC_000008.11:g.60853284T>G	gnomAD
CHD7	Q9P2D1	p.Cys2187Ser	rs1273458526	missense variant	-	NC_000008.11:g.60853285G>C	gnomAD
CHD7	Q9P2D1	p.Glu2188Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853287G>C	NCI-TCGA
CHD7	Q9P2D1	p.Glu2191Lys	rs727503867	missense variant	-	NC_000008.11:g.60853296G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2191Gln	COSM1489358	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853296G>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu2191Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60853296G>T	NCI-TCGA
CHD7	Q9P2D1	p.Glu2192Gln	rs370361926	missense variant	-	NC_000008.11:g.60853299G>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2193Lys	rs918223900	missense variant	-	NC_000008.11:g.60853302G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2194Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853305G>A	NCI-TCGA
CHD7	Q9P2D1	p.Glu2195Gln	rs778997142	missense variant	-	NC_000008.11:g.60853308G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr2196Ile	COSM461415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853312C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp2197Asn	rs772379262	missense variant	-	NC_000008.11:g.60853314G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp2197Asn	RCV000479993	missense variant	-	NC_000008.11:g.60853314G>A	ClinVar
CHD7	Q9P2D1	p.Gly2198Asp	rs1190410557	missense variant	-	NC_000008.11:g.60853318G>A	TOPMed
CHD7	Q9P2D1	p.Gly2198Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853318G>T	NCI-TCGA
CHD7	Q9P2D1	p.Ser2199Asn	RCV000479644	missense variant	-	NC_000008.11:g.60853321G>A	ClinVar
CHD7	Q9P2D1	p.Ser2199Asn	rs1064794854	missense variant	-	NC_000008.11:g.60853321G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2200Arg	rs747357928	missense variant	-	NC_000008.11:g.60853323G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2200Glu	rs1181074057	missense variant	-	NC_000008.11:g.60853324G>A	gnomAD
CHD7	Q9P2D1	p.Gly2200Trp	rs747357928	missense variant	-	NC_000008.11:g.60853323G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2203Ile	rs769346640	missense variant	-	NC_000008.11:g.60853333G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser2203Asn	rs769346640	missense variant	-	NC_000008.11:g.60853333G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys2204Asn	rs1159267015	missense variant	-	NC_000008.11:g.60853337G>T	gnomAD
CHD7	Q9P2D1	p.Gln2205His	rs777271566	missense variant	-	NC_000008.11:g.60853340G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln2205Ter	rs886039688	stop gained	-	NC_000008.11:g.60853338C>T	gnomAD
CHD7	Q9P2D1	p.Gln2205Lys	rs886039688	missense variant	-	NC_000008.11:g.60853338C>A	gnomAD
CHD7	Q9P2D1	p.Gln2205Ter	RCV000254740	nonsense	-	NC_000008.11:g.60853338C>T	ClinVar
CHD7	Q9P2D1	p.Glu2206Lys	rs762311606	missense variant	-	NC_000008.11:g.60853341G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2206Asp	rs769201064	missense variant	-	NC_000008.11:g.60853343A>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2206Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60853341G>T	NCI-TCGA
CHD7	Q9P2D1	p.Cys2207Tyr	rs772728954	missense variant	-	NC_000008.11:g.60853345G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2209Ser	rs1348901190	missense variant	-	NC_000008.11:g.60853350G>T	gnomAD
CHD7	Q9P2D1	p.Ala2209Val	rs1405897510	missense variant	-	NC_000008.11:g.60853351C>T	gnomAD
CHD7	Q9P2D1	p.Ala2209Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853350G>A	NCI-TCGA
CHD7	Q9P2D1	p.Glu2210Gly	rs374331681	missense variant	-	NC_000008.11:g.60853354A>G	ESP,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2210Asp	COSM3900878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853355G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ala2211Ser	rs765980827	missense variant	-	NC_000008.11:g.60853356G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2211Thr	rs765980827	missense variant	-	NC_000008.11:g.60853356G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2211Asp	rs1398262614	missense variant	-	NC_000008.11:g.60853357C>A	TOPMed
CHD7	Q9P2D1	p.Ala2211Val	RCV000719889	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60853357C>T	ClinVar
CHD7	Q9P2D1	p.Ala2211Val	rs1398262614	missense variant	-	NC_000008.11:g.60853357C>T	TOPMed
CHD7	Q9P2D1	p.Ala2211PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60853355_60853356insTTCGAGA	NCI-TCGA
CHD7	Q9P2D1	p.Ala2211PhePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60853355_60853356insTTCGA	NCI-TCGA
CHD7	Q9P2D1	p.Ser2213Pro	rs377754319	missense variant	-	NC_000008.11:g.60853362T>C	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Val2214Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853366T>C	NCI-TCGA
CHD7	Q9P2D1	p.Asn2216Ser	rs1208030571	missense variant	-	NC_000008.11:g.60853372A>G	gnomAD
CHD7	Q9P2D1	p.Glu2217Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60853374G>T	NCI-TCGA
CHD7	Q9P2D1	p.Leu2218Pro	rs767236681	missense variant	-	NC_000008.11:g.60853378T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2220Asp	rs752591881	missense variant	-	NC_000008.11:g.60853384G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2220Ala	rs752591881	missense variant	-	NC_000008.11:g.60853384G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2221Ile	rs778892168	missense variant	-	NC_000008.11:g.60853386G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2222Gly	COSM3900879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853390A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly2224Ser	rs758745100	missense variant	-	NC_000008.11:g.60853395G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2225Thr	rs374408098	missense variant	-	NC_000008.11:g.60853398G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp2226Asn	rs1481144451	missense variant	-	NC_000008.11:g.60853401G>A	TOPMed
CHD7	Q9P2D1	p.Asp2226Gly	rs755396598	missense variant	-	NC_000008.11:g.60853402A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp2226His	rs1481144451	missense variant	-	NC_000008.11:g.60853401G>C	TOPMed
CHD7	Q9P2D1	p.Thr2227Ser	rs1416622951	missense variant	-	NC_000008.11:g.60853405C>G	gnomAD
CHD7	Q9P2D1	p.Gly2228Arg	rs200907656	missense variant	-	NC_000008.11:g.60853407G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2228Arg	RCV000596504	missense variant	-	NC_000008.11:g.60853407G>A	ClinVar
CHD7	Q9P2D1	p.Gly2228LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60853406_60853407insTTGCCTTC	NCI-TCGA
CHD7	Q9P2D1	p.Ser2231Cys	rs554415600	missense variant	-	NC_000008.11:g.60853417C>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2231Phe	rs554415600	missense variant	-	NC_000008.11:g.60853417C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2231Cys	RCV000603332	missense variant	-	NC_000008.11:g.60853417C>G	ClinVar
CHD7	Q9P2D1	p.Ile2232Val	rs1329751221	missense variant	-	NC_000008.11:g.60853419A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys2235Gln	rs1339995616	missense variant	-	NC_000008.11:g.60853428A>C	gnomAD
CHD7	Q9P2D1	p.Lys2235Arg	rs889211152	missense variant	-	NC_000008.11:g.60853429A>G	TOPMed
CHD7	Q9P2D1	p.Gly2236Val	rs774000027	missense variant	-	NC_000008.11:g.60853432G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2237Phe	COSM3650083	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853435C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu2238Lys	rs1227502557	missense variant	-	NC_000008.11:g.60853437G>A	gnomAD
CHD7	Q9P2D1	p.Glu2238Ter	COSM751041	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60853437G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu2239Gly	rs760569636	missense variant	-	NC_000008.11:g.60853441A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2239Ala	rs760569636	missense variant	-	NC_000008.11:g.60853441A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp2240Tyr	rs1196057570	missense variant	-	NC_000008.11:g.60853443G>T	gnomAD
CHD7	Q9P2D1	p.Asp2240Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853444A>G	NCI-TCGA
CHD7	Q9P2D1	p.Glu2242Gly	rs1217394749	missense variant	-	NC_000008.11:g.60853450A>G	TOPMed
CHD7	Q9P2D1	p.Leu2245Ter	RCV000723279	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60853459del	ClinVar
CHD7	Q9P2D1	p.Leu2245Val	rs1284080485	missense variant	-	NC_000008.11:g.60853458C>G	TOPMed
CHD7	Q9P2D1	p.Glu2246Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60853461G>T	NCI-TCGA
CHD7	Q9P2D1	p.Asp2247Tyr	COSM1489360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853464G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp2248Glu	rs1032877391	missense variant	-	NC_000008.11:g.60853469C>A	gnomAD
CHD7	Q9P2D1	p.Asp2249Glu	rs751843304	missense variant	-	NC_000008.11:g.60853472T>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp2249Asn	rs766498514	missense variant	-	NC_000008.11:g.60853470G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp2249Glu	RCV000177572	missense variant	-	NC_000008.11:g.60853472T>A	ClinVar
CHD7	Q9P2D1	p.Ser2251Leu	rs962039483	missense variant	-	NC_000008.11:g.60853477C>T	TOPMed
CHD7	Q9P2D1	p.Glu2252Ter	RCV000276528	frameshift	-	NC_000008.11:g.60853479del	ClinVar
CHD7	Q9P2D1	p.Glu2253Ter	rs1057517956	stop gained	-	NC_000008.11:g.60853482G>T	-
CHD7	Q9P2D1	p.Glu2253Ter	RCV000412832	nonsense	-	NC_000008.11:g.60853482G>T	ClinVar
CHD7	Q9P2D1	p.Glu2253Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60853483A>G	NCI-TCGA
CHD7	Q9P2D1	p.Ser2255Tyr	rs1388747580	missense variant	-	NC_000008.11:g.60853489C>A	gnomAD
CHD7	Q9P2D1	p.Gln2256Glu	rs748511141	missense variant	-	NC_000008.11:g.60853491C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2257Leu	COSM3650084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853495C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu2258Lys	rs970986435	missense variant	-	NC_000008.11:g.60853497G>A	TOPMed
CHD7	Q9P2D1	p.Glu2258Gly	COSM1457740	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60853498A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ala2259Thr	RCV000719920	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60853500G>A	ClinVar
CHD7	Q9P2D1	p.Ala2259Thr	RCV000424210	missense variant	-	NC_000008.11:g.60853500G>A	ClinVar
CHD7	Q9P2D1	p.Ala2259Thr	rs200806228	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60853500G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Ala2259Thr	VAR_068414	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60853500G>A	UniProt
CHD7	Q9P2D1	p.Ala2259Thr	rs200806228	missense variant	-	NC_000008.11:g.60853500G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2261Pro	rs375383160	missense variant	-	NC_000008.11:g.60854368G>C	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2261Val	rs1047690374	missense variant	-	NC_000008.11:g.60854369C>T	TOPMed
CHD7	Q9P2D1	p.Ala2261Thr	rs375383160	missense variant	-	NC_000008.11:g.60854368G>A	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2261Ter	RCV000320041	frameshift	-	NC_000008.11:g.60854368del	ClinVar
CHD7	Q9P2D1	p.Arg2264Lys	COSM6181204	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60854378G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly2265Arg	rs368750638	missense variant	-	NC_000008.11:g.60854380G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe2268Leu	COSM751039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60854391T>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn2273Ser	rs745361070	missense variant	-	NC_000008.11:g.60854405A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn2273Asp	rs1329129099	missense variant	-	NC_000008.11:g.60854404A>G	gnomAD
CHD7	Q9P2D1	p.Met2276Ter	RCV000193258	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60854412dup	ClinVar
CHD7	Q9P2D1	p.Met2276Val	rs746576881	missense variant	-	NC_000008.11:g.60854413A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Met2276Thr	rs1206316565	missense variant	-	NC_000008.11:g.60854414T>C	gnomAD
CHD7	Q9P2D1	p.Asp2281Gly	rs761873381	missense variant	-	NC_000008.11:g.60854429A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp2281Glu	rs587783453	missense variant	-	NC_000008.11:g.60854430T>G	-
CHD7	Q9P2D1	p.Asp2281Ter	RCV000543551	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60854428_60854429insTA	ClinVar
CHD7	Q9P2D1	p.Asp2281Glu	RCV000145688	missense variant	-	NC_000008.11:g.60854430T>G	ClinVar
CHD7	Q9P2D1	p.Thr2283AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60854431_60854432insA	NCI-TCGA
CHD7	Q9P2D1	p.Arg2284Ter	rs587783454	stop gained	-	NC_000008.11:g.60854437C>T	-
CHD7	Q9P2D1	p.Arg2284Gln	rs542880173	missense variant	-	NC_000008.11:g.60854438G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2284Gln	RCV000429014	missense variant	-	NC_000008.11:g.60854438G>A	ClinVar
CHD7	Q9P2D1	p.Arg2284Ter	RCV000145689	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60854437C>T	ClinVar
CHD7	Q9P2D1	p.Asp2285Gly	rs1201928870	missense variant	-	NC_000008.11:g.60854441A>G	gnomAD
CHD7	Q9P2D1	p.Asp2285Asn	rs1431774874	missense variant	-	NC_000008.11:g.60854440G>A	gnomAD
CHD7	Q9P2D1	p.Gly2286Ala	VAR_068415	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Phe2287Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60854448C>A	NCI-TCGA
CHD7	Q9P2D1	p.Tyr2288Phe	rs561084367	missense variant	-	NC_000008.11:g.60854450A>T	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Met2289Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60854454G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly2292Arg	rs1157045693	missense variant	-	NC_000008.11:g.60854461G>A	gnomAD
CHD7	Q9P2D1	p.Asp2293Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60854464G>T	NCI-TCGA
CHD7	Q9P2D1	p.Pro2294Ser	rs767696409	missense variant	-	NC_000008.11:g.60854467C>T	ExAC
CHD7	Q9P2D1	p.Ala2297Ter	RCV000687270	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60854475_60854476del	ClinVar
CHD7	Q9P2D1	p.Gln2298Ter	rs1057518891	stop gained	-	NC_000008.11:g.60854479C>T	-
CHD7	Q9P2D1	p.Gln2298His	rs774683470	missense variant	-	NC_000008.11:g.60854481G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln2298Ter	RCV000415206	nonsense	Myopia	NC_000008.11:g.60854479C>T	ClinVar
CHD7	Q9P2D1	p.Gln2298His	rs774683470	missense variant	-	NC_000008.11:g.60854481G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2299His	rs754175606	missense variant	-	NC_000008.11:g.60854483T>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2299Ile	rs764553219	missense variant	-	NC_000008.11:g.60854482C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2303Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60854495G>C	NCI-TCGA
CHD7	Q9P2D1	p.Arg2303Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60854495G>A	NCI-TCGA
CHD7	Q9P2D1	p.Phe2305Leu	rs779378947	missense variant	-	NC_000008.11:g.60854500T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Phe2305Tyr	rs750003961	missense variant	-	NC_000008.11:g.60854501T>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2306Thr	rs1365225246	missense variant	-	NC_000008.11:g.60854503G>A	TOPMed
CHD7	Q9P2D1	p.Ala2306Ser	rs1365225246	missense variant	-	NC_000008.11:g.60854503G>T	TOPMed
CHD7	Q9P2D1	p.Ala2306Val	rs757931215	missense variant	-	NC_000008.11:g.60854504C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2308Leu	rs768152792	missense variant	-	NC_000008.11:g.60854510C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Trp2310Gly	rs1470683238	missense variant	-	NC_000008.11:g.60854515T>G	TOPMed
CHD7	Q9P2D1	p.Pro2311Ser	rs769906291	missense variant	-	NC_000008.11:g.60854518C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro2311Leu	rs773275425	missense variant	-	NC_000008.11:g.60854519C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys2312Thr	VAR_068416	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Asn2318Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60855991A>G	NCI-TCGA
CHD7	Q9P2D1	p.Arg2319Cys	rs121434341	missense variant	-	NC_000008.11:g.60855993C>T	-
CHD7	Q9P2D1	p.Arg2319Cys	rs121434341	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60855993C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg2319Cys	VAR_068148	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60855993C>T	UniProt
CHD7	Q9P2D1	p.Arg2319His	rs765943226	missense variant	-	NC_000008.11:g.60855994G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2319Ser	rs121434341	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60855993C>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg2319Ser	VAR_033250	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60855993C>A	UniProt
CHD7	Q9P2D1	p.Arg2319Ser	rs121434341	missense variant	-	NC_000008.11:g.60855993C>A	-
CHD7	Q9P2D1	p.Arg2319Ser	RCV000002105	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60855993C>A	ClinVar
CHD7	Q9P2D1	p.Arg2319Cys	RCV000224986	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60855993C>T	ClinVar
CHD7	Q9P2D1	p.Asp2321Glu	rs757868659	missense variant	-	NC_000008.11:g.60856001C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp2321Tyr	rs754709055	missense variant	-	NC_000008.11:g.60855999G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp2321Gly	rs1427557686	missense variant	-	NC_000008.11:g.60856000A>G	gnomAD
CHD7	Q9P2D1	p.Asn2322Lys	rs1446751218	missense variant	-	NC_000008.11:g.60856004C>G	gnomAD
CHD7	Q9P2D1	p.Asn2322Ser	rs201470035	missense variant	-	NC_000008.11:g.60856003A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile2323Val	rs755973702	missense variant	-	NC_000008.11:g.60856005A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Cys2324Tyr	COSM486571	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856009G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Val2327Ala	rs777651369	missense variant	-	NC_000008.11:g.60856018T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2330Ala	rs77704609	missense variant	-	NC_000008.11:g.60856027G>C	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2330Ala	rs77704609	missense variant	-	NC_000008.11:g.60856027G>C	UniProt,dbSNP
CHD7	Q9P2D1	p.Gly2330Ala	VAR_068149	missense variant	-	NC_000008.11:g.60856027G>C	UniProt
CHD7	Q9P2D1	p.Gly2330Asp	rs77704609	missense variant	-	NC_000008.11:g.60856027G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2330Ala	rs1554604771	missense variant	-	NC_000008.11:g.60856027_60856028delinsCT	-
CHD7	Q9P2D1	p.Gly2330Ala	RCV000825057	missense variant	-	NC_000008.11:g.60856027_60856028delinsCT	ClinVar
CHD7	Q9P2D1	p.Gly2330Ter	RCV000755927	frameshift	-	NC_000008.11:g.60856027del	ClinVar
CHD7	Q9P2D1	p.Lys2331Glu	rs1271202716	missense variant	-	NC_000008.11:g.60856029A>G	gnomAD
CHD7	Q9P2D1	p.Lys2331Ile	rs747050794	missense variant	-	NC_000008.11:g.60856030A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Lys2331Arg	rs747050794	missense variant	-	NC_000008.11:g.60856030A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Trp2332Ter	RCV000478076	frameshift	-	NC_000008.11:g.60856032dup	ClinVar
CHD7	Q9P2D1	p.Trp2332Ter	RCV000177749	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856033G>A	ClinVar
CHD7	Q9P2D1	p.Trp2332Ter	COSM1100864	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60856034G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Trp2332Ter	RCV000724065	nonsense	-	NC_000008.11:g.60856033G>A	ClinVar
CHD7	Q9P2D1	p.Trp2332Ter	rs794727569	stop gained	-	NC_000008.11:g.60856033G>A	-
CHD7	Q9P2D1	p.Val2334Leu	rs1453511678	missense variant	-	NC_000008.11:g.60856038G>C	gnomAD
CHD7	Q9P2D1	p.Asn2335Ser	rs1222532492	missense variant	-	NC_000008.11:g.60856042A>G	gnomAD
CHD7	Q9P2D1	p.Arg2336Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856044A>G	NCI-TCGA
CHD7	Q9P2D1	p.Arg2337Ser	rs765610436	missense variant	-	NC_000008.11:g.60856047C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2337Cys	rs765610436	missense variant	-	NC_000008.11:g.60856047C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2337His	rs763555514	missense variant	-	NC_000008.11:g.60856048G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln2338Pro	COSM1100867	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856051A>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Met2339Val	RCV000703681	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856053A>G	ClinVar
CHD7	Q9P2D1	p.Met2339Val	rs1184188163	missense variant	-	NC_000008.11:g.60856053A>G	gnomAD
CHD7	Q9P2D1	p.Met2339Leu	rs1184188163	missense variant	-	NC_000008.11:g.60856053A>T	gnomAD
CHD7	Q9P2D1	p.Met2339Ile	rs1247369056	missense variant	-	NC_000008.11:g.60856055G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe2340Leu	rs766773531	missense variant	-	NC_000008.11:g.60856056T>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe2342Leu	rs1419897952	missense variant	-	NC_000008.11:g.60856062T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile2346Val	rs955440387	missense variant	-	NC_000008.11:g.60856074A>G	TOPMed
CHD7	Q9P2D1	p.Gly2348Asp	rs754527047	missense variant	-	NC_000008.11:g.60856081G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2348Val	rs754527047	missense variant	-	NC_000008.11:g.60856081G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Tyr2349His	rs368753931	missense variant	-	NC_000008.11:g.60856083T>C	ESP
CHD7	Q9P2D1	p.Thr2350Ile	rs987218749	missense variant	-	NC_000008.11:g.60856087C>T	TOPMed
CHD7	Q9P2D1	p.Pro2351Leu	rs373370399	missense variant	-	NC_000008.11:g.60856090C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2354Ala	rs755790992	missense variant	-	NC_000008.11:g.60856099T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp2355Gly	rs1365102124	missense variant	-	NC_000008.11:g.60856102A>G	gnomAD
CHD7	Q9P2D1	p.Ser2356Gly	rs1429162489	missense variant	-	NC_000008.11:g.60856104A>G	gnomAD
CHD7	Q9P2D1	p.Ser2356Arg	rs1272345661	missense variant	-	NC_000008.11:g.60856106C>A	gnomAD
CHD7	Q9P2D1	p.Pro2357Leu	rs1211299390	missense variant	-	NC_000008.11:g.60856108C>T	TOPMed
CHD7	Q9P2D1	p.Pro2357Ser	rs1363086074	missense variant	-	NC_000008.11:g.60856107C>T	gnomAD
CHD7	Q9P2D1	p.Gln2359Glu	rs947072247	missense variant	-	NC_000008.11:g.60856113C>G	gnomAD
CHD7	Q9P2D1	p.Gln2359Lys	rs947072247	missense variant	-	NC_000008.11:g.60856113C>A	gnomAD
CHD7	Q9P2D1	p.Arg2361Ser	rs1325869967	missense variant	-	NC_000008.11:g.60856121G>T	gnomAD
CHD7	Q9P2D1	p.Arg2361Lys	rs777753993	missense variant	-	NC_000008.11:g.60856120G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2361Lys	RCV000340499	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60856120G>A	ClinVar
CHD7	Q9P2D1	p.Arg2361Lys	RCV000405181	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856120G>A	ClinVar
CHD7	Q9P2D1	p.Ser2362Asn	rs139876661	missense variant	-	NC_000008.11:g.60856123G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2362Asn	RCV000634424	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856123G>A	ClinVar
CHD7	Q9P2D1	p.Ser2362Asn	RCV000081855	missense variant	-	NC_000008.11:g.60856123G>A	ClinVar
CHD7	Q9P2D1	p.Phe2363Tyr	rs1463501939	missense variant	-	NC_000008.11:g.60856126T>A	gnomAD
CHD7	Q9P2D1	p.Ala2364Ser	rs778712380	missense variant	-	NC_000008.11:g.60856128G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2364Val	rs1326199102	missense variant	-	NC_000008.11:g.60856129C>T	TOPMed
CHD7	Q9P2D1	p.Leu2366His	rs541818422	missense variant	-	NC_000008.11:g.60856135T>A	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2366Pro	rs541818422	missense variant	-	NC_000008.11:g.60856135T>C	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2366Arg	rs541818422	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60856135T>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Leu2366Arg	VAR_068417	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60856135T>G	UniProt
CHD7	Q9P2D1	p.Leu2366Arg	rs541818422	missense variant	-	NC_000008.11:g.60856135T>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Met2368Val	rs769970846	missense variant	-	NC_000008.11:g.60856140A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2368Ile	rs1388968505	missense variant	-	NC_000008.11:g.60856142G>A	TOPMed
CHD7	Q9P2D1	p.Gly2370Ser	RCV000634434	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856146G>A	ClinVar
CHD7	Q9P2D1	p.Gly2370Ser	rs185940313	missense variant	-	NC_000008.11:g.60856146G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2370Ala	rs531223140	missense variant	-	NC_000008.11:g.60856147G>C	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2370Arg	rs185940313	missense variant	-	NC_000008.11:g.60856146G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln2371His	rs767155639	missense variant	-	NC_000008.11:g.60856151A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2372Thr	rs1346210224	missense variant	-	NC_000008.11:g.60856152G>A	gnomAD
CHD7	Q9P2D1	p.Ala2372Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856152G>T	NCI-TCGA
CHD7	Q9P2D1	p.Ile2374Val	rs142095932	missense variant	-	NC_000008.11:g.60856158A>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2375Asn	rs1347629175	missense variant	-	NC_000008.11:g.60856162G>A	gnomAD
CHD7	Q9P2D1	p.Ser2375Ter	RCV000760270	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60856161del	ClinVar
CHD7	Q9P2D1	p.Gly2376Glu	rs1436635568	missense variant	-	NC_000008.11:g.60856165G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2377Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856167A>G	NCI-TCGA
CHD7	Q9P2D1	p.Glu2378Ter	RCV000634433	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856170G>T	ClinVar
CHD7	Q9P2D1	p.Glu2378Ter	rs878975068	stop gained	-	NC_000008.11:g.60856170G>T	-
CHD7	Q9P2D1	p.Glu2378Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856171A>T	NCI-TCGA
CHD7	Q9P2D1	p.Ile2380Met	RCV000658195	missense variant	-	NC_000008.11:g.60856178C>G	ClinVar
CHD7	Q9P2D1	p.Ile2380Met	rs1287878235	missense variant	-	NC_000008.11:g.60856178C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2381Pro	rs1348628395	missense variant	-	NC_000008.11:g.60856179A>C	gnomAD
CHD7	Q9P2D1	p.Thr2381Ser	rs763644892	missense variant	-	NC_000008.11:g.60856180C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr2382Met	rs189926848	missense variant	-	NC_000008.11:g.60856183C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2383Cys	rs757007305	missense variant	-	NC_000008.11:g.60856186C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2383Phe	rs757007305	missense variant	-	NC_000008.11:g.60856186C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2383Ter	RCV000326053	frameshift	-	NC_000008.11:g.60856183dup	ClinVar
CHD7	Q9P2D1	p.Pro2384Leu	rs1270702286	missense variant	-	NC_000008.11:g.60856189C>T	gnomAD
CHD7	Q9P2D1	p.Leu2386Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856196G>T	NCI-TCGA
CHD7	Q9P2D1	p.Asp2390Glu	rs199966549	missense variant	-	NC_000008.11:g.60856450T>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2391Ser	rs1425669718	missense variant	-	NC_000008.11:g.60856451G>T	gnomAD
CHD7	Q9P2D1	p.Ala2391Val	rs1209205798	missense variant	-	NC_000008.11:g.60856452C>T	TOPMed
CHD7	Q9P2D1	p.Asn2393Lys	RCV000168185	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856459C>A	ClinVar
CHD7	Q9P2D1	p.Asn2393Lys	rs753446252	missense variant	-	NC_000008.11:g.60856459C>A	ExAC,TOPMed
CHD7	Q9P2D1	p.Leu2394Ile	rs1168283468	missense variant	-	NC_000008.11:g.60856460C>A	gnomAD
CHD7	Q9P2D1	p.Ser2395Pro	rs1285534131	missense variant	-	NC_000008.11:g.60856463T>C	TOPMed
CHD7	Q9P2D1	p.Ser2395Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856464C>A	NCI-TCGA
CHD7	Q9P2D1	p.Val2396Asp	rs1446392968	missense variant	-	NC_000008.11:g.60856467T>A	gnomAD
CHD7	Q9P2D1	p.Pro2397Thr	rs1205123983	missense variant	-	NC_000008.11:g.60856469C>A	TOPMed
CHD7	Q9P2D1	p.Arg2398Cys	rs370086501	missense variant	-	NC_000008.11:g.60856472C>T	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2398His	rs758378293	missense variant	-	NC_000008.11:g.60856473G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2398Gly	VAR_072968	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
CHD7	Q9P2D1	p.Gln2399Arg	rs1450447473	missense variant	-	NC_000008.11:g.60856476A>G	gnomAD
CHD7	Q9P2D1	p.Arg2400Trp	rs770959300	missense variant	-	NC_000008.11:g.60856478C>T	ExAC,TOPMed
CHD7	Q9P2D1	p.Arg2400Gln	rs534510177	missense variant	-	NC_000008.11:g.60856479G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2400Gln	RCV000545037	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856479G>A	ClinVar
CHD7	Q9P2D1	p.Arg2402Gly	COSM4828599	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856484A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg2402Trp	rs1291162127	missense variant	-	NC_000008.11:g.60856484A>T	TOPMed
CHD7	Q9P2D1	p.Arg2403Gly	rs1383364362	missense variant	-	NC_000008.11:g.60856487A>G	gnomAD
CHD7	Q9P2D1	p.Ile2407Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856499A>G	NCI-TCGA
CHD7	Q9P2D1	p.Glu2408ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60856501_60856502insACAA	NCI-TCGA
CHD7	Q9P2D1	p.Glu2408Lys	rs1341064149	missense variant	-	NC_000008.11:g.60856502G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2412Lys	rs1460548487	missense variant	-	NC_000008.11:g.60856514G>A	TOPMed
CHD7	Q9P2D1	p.Arg2413Ile	rs779197369	missense variant	-	NC_000008.11:g.60856518G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2413Ser	rs746225415	missense variant	-	NC_000008.11:g.60856519A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2414Ser	rs772775834	missense variant	-	NC_000008.11:g.60856520G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2414Val	rs776149801	missense variant	-	NC_000008.11:g.60856521C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2415Val	rs1463760760	missense variant	-	NC_000008.11:g.60856524C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2415Ser	rs41315633	missense variant	-	NC_000008.11:g.60856523G>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Ala2415Ser	VAR_068418	missense variant	-	NC_000008.11:g.60856523G>T	UniProt
CHD7	Q9P2D1	p.Ala2415Ser	rs41315633	missense variant	-	NC_000008.11:g.60856523G>T	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2417Met	rs776169011	missense variant	-	NC_000008.11:g.60856530G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2418Ter	rs587783455	stop gained	-	NC_000008.11:g.60856532C>T	-
CHD7	Q9P2D1	p.Arg2418Ter	RCV000145690	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856532C>T	ClinVar
CHD7	Q9P2D1	p.Arg2418Leu	rs761410781	missense variant	-	NC_000008.11:g.60856533G>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2418Gln	rs761410781	missense variant	-	NC_000008.11:g.60856533G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2418Ter	RCV000760307	nonsense	-	NC_000008.11:g.60856532C>T	ClinVar
CHD7	Q9P2D1	p.Arg2418Gly	VAR_068150	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Leu2420Phe	rs1406773161	missense variant	-	NC_000008.11:g.60856538C>T	gnomAD
CHD7	Q9P2D1	p.Met2421Val	rs1064794834	missense variant	-	NC_000008.11:g.60856541A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2421Val	RCV000486584	missense variant	-	NC_000008.11:g.60856541A>G	ClinVar
CHD7	Q9P2D1	p.Met2421Ile	rs1342706035	missense variant	-	NC_000008.11:g.60856543G>T	gnomAD
CHD7	Q9P2D1	p.Met2421Arg	rs1434214027	missense variant	-	NC_000008.11:g.60856542T>G	gnomAD
CHD7	Q9P2D1	p.Met2421Thr	rs1434214027	missense variant	-	NC_000008.11:g.60856542T>C	gnomAD
CHD7	Q9P2D1	p.Met2423Leu	rs1293236067	missense variant	-	NC_000008.11:g.60856547A>T	gnomAD
CHD7	Q9P2D1	p.Met2423Val	rs1293236067	missense variant	-	NC_000008.11:g.60856547A>G	gnomAD
CHD7	Q9P2D1	p.Met2423Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856549G>T	NCI-TCGA
CHD7	Q9P2D1	p.Ala2425Ser	rs1327945597	missense variant	-	NC_000008.11:g.60856553G>T	gnomAD
CHD7	Q9P2D1	p.Arg2428Ter	RCV000258097	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60856562dup	ClinVar
CHD7	Q9P2D1	p.Arg2428Leu	rs563360548	missense variant	-	NC_000008.11:g.60856563G>T	1000Genomes,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2428Ter	rs1320897198	stop gained	-	NC_000008.11:g.60856562C>T	gnomAD
CHD7	Q9P2D1	p.Arg2428Gly	rs1320897198	missense variant	-	NC_000008.11:g.60856562C>G	gnomAD
CHD7	Q9P2D1	p.Arg2428Gln	rs563360548	missense variant	-	NC_000008.11:g.60856563G>A	1000Genomes,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2428Ter	RCV000627047	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856562C>T	ClinVar
CHD7	Q9P2D1	p.Arg2428Ter	RCV000623612	frameshift	Inborn genetic diseases	NC_000008.11:g.60856561dup	ClinVar
CHD7	Q9P2D1	p.Glu2429Ter	rs773047607	stop gained	-	NC_000008.11:g.60856565G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2429Lys	rs773047607	missense variant	-	NC_000008.11:g.60856565G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2429Ter	RCV000462550	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856565G>T	ClinVar
CHD7	Q9P2D1	p.Val2432Leu	RCV000145691	missense variant	-	NC_000008.11:g.60856574G>T	ClinVar
CHD7	Q9P2D1	p.Val2432Met	rs372078650	missense variant	-	NC_000008.11:g.60856574G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2432Leu	rs372078650	missense variant	-	NC_000008.11:g.60856574G>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2432Gly	rs1220767368	missense variant	-	NC_000008.11:g.60856575T>G	TOPMed
CHD7	Q9P2D1	p.Val2433Ile	rs766091347	missense variant	-	NC_000008.11:g.60856577G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Val2433Ter	RCV000482952	frameshift	-	NC_000008.11:g.60856577del	ClinVar
CHD7	Q9P2D1	p.Gly2437Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856590G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly2437Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60856589G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gln2438Pro	rs754894988	missense variant	-	NC_000008.11:g.60856593A>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln2438Pro	RCV000594650	missense variant	-	NC_000008.11:g.60856593A>C	ClinVar
CHD7	Q9P2D1	p.Gln2438Ter	rs1060503188	stop gained	-	NC_000008.11:g.60856592C>T	-
CHD7	Q9P2D1	p.Gln2438Glu	RCV000770775	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856592C>G	ClinVar
CHD7	Q9P2D1	p.Gln2438Ter	RCV000469838	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60856592C>T	ClinVar
CHD7	Q9P2D1	p.Gln2438Arg	rs754894988	missense variant	-	NC_000008.11:g.60856593A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2441Ala	rs1326554032	missense variant	-	NC_000008.11:g.60856602T>C	TOPMed
CHD7	Q9P2D1	p.Ala2447Ser	rs1430047995	missense variant	-	NC_000008.11:g.60856619G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2447Thr	rs1430047995	missense variant	-	NC_000008.11:g.60856619G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2448Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60856623C>G	NCI-TCGA
CHD7	Q9P2D1	p.Arg2449Thr	rs727503870	missense variant	-	NC_000008.11:g.60856626G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2452Ile	rs746021992	missense variant	-	NC_000008.11:g.60856635C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser2453Gly	rs1224946467	missense variant	-	NC_000008.11:g.60856637A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2454Ala	rs935560876	missense variant	-	NC_000008.11:g.60856640T>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2455Ala	rs546481718	missense variant	-	NC_000008.11:g.60856643A>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Asn2457Tyr	COSM422089	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856649A>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn2457Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856650A>T	NCI-TCGA
CHD7	Q9P2D1	p.Phe2458Val	COSM1457744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856652T>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Phe2458Cys	COSM1100885	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856653T>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser2460Cys	rs1258171197	missense variant	-	NC_000008.11:g.60856659C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2461Phe	COSM1100888	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856661C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser2462Phe	rs1487098788	missense variant	-	NC_000008.11:g.60856665C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2462Ter	RCV000145692	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60856660_60856663TCTT[1]	ClinVar
CHD7	Q9P2D1	p.Ser2462Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856664T>C	NCI-TCGA
CHD7	Q9P2D1	p.Lys2464Glu	VAR_068419	Missense	CHARGE syndrome (CHARGES) [MIM:214800]	-	UniProt
CHD7	Q9P2D1	p.Phe2465Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856674T>G	NCI-TCGA
CHD7	Q9P2D1	p.Ile2466Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856677T>C	NCI-TCGA
CHD7	Q9P2D1	p.Ile2466Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856676A>T	NCI-TCGA
CHD7	Q9P2D1	p.Asn2469Thr	rs1206124736	missense variant	-	NC_000008.11:g.60856686A>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2471Pro	rs769178123	missense variant	-	NC_000008.11:g.60856691T>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2471Pro	RCV000634413	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856691T>C	ClinVar
CHD7	Q9P2D1	p.Ser2471Pro	RCV000766023	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856691T>C	ClinVar
CHD7	Q9P2D1	p.Thr2472Ala	rs372546969	missense variant	-	NC_000008.11:g.60856694A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2472Lys	rs747677437	missense variant	-	NC_000008.11:g.60856695C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr2472Ile	rs747677437	missense variant	-	NC_000008.11:g.60856695C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro2473Arg	rs772852129	missense variant	-	NC_000008.11:g.60856698C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Val2474Ala	rs1473386111	missense variant	-	NC_000008.11:g.60856701T>C	gnomAD
CHD7	Q9P2D1	p.Ala2477Ser	rs762534670	missense variant	-	NC_000008.11:g.60856709G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Phe2478Ser	rs375203135	missense variant	-	NC_000008.11:g.60856713T>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe2478Leu	rs1159377366	missense variant	-	NC_000008.11:g.60856712T>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2480Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856718A>T	NCI-TCGA
CHD7	Q9P2D1	p.Gln2481Pro	rs759430638	missense variant	-	NC_000008.11:g.60856722A>C	ExAC
CHD7	Q9P2D1	p.Gln2481His	rs767478916	missense variant	-	NC_000008.11:g.60856723A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln2481Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60856721C>T	NCI-TCGA
CHD7	Q9P2D1	p.Met2482Thr	rs753934351	missense variant	-	NC_000008.11:g.60856725T>C	ExAC
CHD7	Q9P2D1	p.Met2482Val	rs369402366	missense variant	-	NC_000008.11:g.60856724A>G	ESP,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2482Ile	rs757364159	missense variant	-	NC_000008.11:g.60856726G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2483Lys	rs398124323	missense variant	-	NC_000008.11:g.60856727G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2483Lys	RCV000081858	missense variant	-	NC_000008.11:g.60856727G>A	ClinVar
CHD7	Q9P2D1	p.Ala2487Thr	rs750700125	missense variant	-	NC_000008.11:g.60856739G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2487Val	rs1349434680	missense variant	-	NC_000008.11:g.60856740C>T	gnomAD
CHD7	Q9P2D1	p.Gly2488Asp	rs398124324	missense variant	-	NC_000008.11:g.60856743G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2488Asp	RCV000081859	missense variant	-	NC_000008.11:g.60856743G>A	ClinVar
CHD7	Q9P2D1	p.Leu2489Phe	rs889746241	missense variant	-	NC_000008.11:g.60856745C>T	TOPMed
CHD7	Q9P2D1	p.Ser2490Leu	rs371595770	missense variant	-	NC_000008.11:g.60856749C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2490Pro	rs1319276265	missense variant	-	NC_000008.11:g.60856748T>C	gnomAD
CHD7	Q9P2D1	p.Ser2490Trp	rs371595770	missense variant	-	NC_000008.11:g.60856749C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2491His	rs528722099	missense variant	-	NC_000008.11:g.60856752G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2491Cys	rs755492299	missense variant	-	NC_000008.11:g.60856751C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2491Cys	rs755492299	missense variant	-	NC_000008.11:g.60856751C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg2491Cys	VAR_068421	missense variant	-	NC_000008.11:g.60856751C>T	UniProt
CHD7	Q9P2D1	p.Pro2493Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856758C>G	NCI-TCGA
CHD7	Q9P2D1	p.Thr2494Ile	RCV000368233	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856761C>T	ClinVar
CHD7	Q9P2D1	p.Thr2494Ile	RCV000311256	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60856761C>T	ClinVar
CHD7	Q9P2D1	p.Thr2494Ile	rs201514840	missense variant	-	NC_000008.11:g.60856761C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2495Trp	rs1175584387	missense variant	-	NC_000008.11:g.60856763A>T	gnomAD
CHD7	Q9P2D1	p.Arg2495Met	rs777215250	missense variant	-	NC_000008.11:g.60856764G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2495Lys	rs777215250	missense variant	-	NC_000008.11:g.60856764G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2495Ser	rs547209998	missense variant	-	NC_000008.11:g.60856765G>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2495Ser	rs547209998	missense variant	-	NC_000008.11:g.60856765G>C	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2495Ser	rs547209998	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60856765G>C	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg2495Ser	VAR_068151	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60856765G>C	UniProt
CHD7	Q9P2D1	p.His2496Arg	rs200366208	missense variant	-	NC_000008.11:g.60856767A>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2497Phe	rs771698896	missense variant	-	NC_000008.11:g.60856769C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2498Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856772C>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly2500Asp	rs1435775458	missense variant	-	NC_000008.11:g.60856779G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2500Val	rs1435775458	missense variant	-	NC_000008.11:g.60856779G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2501Phe	COSM3650087	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856782C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu2502Val	COSM1569595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856784C>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp2504His	rs775511111	missense variant	-	NC_000008.11:g.60856790G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro2508Ter	RCV000599002	frameshift	-	NC_000008.11:g.60856804del	ClinVar
CHD7	Q9P2D1	p.Met2509Val	COSM1100894	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60856805A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg2511Ser	rs1353592744	missense variant	-	NC_000008.11:g.60856813G>C	gnomAD
CHD7	Q9P2D1	p.Arg2512Lys	rs1232482561	missense variant	-	NC_000008.11:g.60856815G>A	TOPMed
CHD7	Q9P2D1	p.Arg2513Gly	rs529799008	missense variant	-	NC_000008.11:g.60856817C>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2513Gln	RCV000485070	missense variant	-	NC_000008.11:g.60856818G>A	ClinVar
CHD7	Q9P2D1	p.Arg2513Gln	rs1064794649	missense variant	-	NC_000008.11:g.60856818G>A	gnomAD
CHD7	Q9P2D1	p.Arg2513Trp	rs529799008	missense variant	-	NC_000008.11:g.60856817C>T	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2516Trp	rs1202775853	missense variant	-	NC_000008.11:g.60856826A>T	TOPMed
CHD7	Q9P2D1	p.Lys2517Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60856829A>G	NCI-TCGA
CHD7	Q9P2D1	p.Val2519Ala	rs1314947943	missense variant	-	NC_000008.11:g.60856836T>C	gnomAD
CHD7	Q9P2D1	p.Leu2522Ile	rs766692840	missense variant	-	NC_000008.11:g.60856844C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2524Val	rs751931671	missense variant	-	NC_000008.11:g.60856850C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2527Ile	rs1307898432	missense variant	-	NC_000008.11:g.60856861G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2527Leu	RCV000362260	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60856859A>C	ClinVar
CHD7	Q9P2D1	p.Met2527Leu	rs192129249	missense variant	-	NC_000008.11:g.60856859A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2527Val	rs192129249	missense variant	-	NC_000008.11:g.60856859A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2527Leu	RCV000716204	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60856859A>C	ClinVar
CHD7	Q9P2D1	p.Ser2528Asn	rs1372032849	missense variant	-	NC_000008.11:g.60856863G>A	TOPMed
CHD7	Q9P2D1	p.His2529Arg	rs756572879	missense variant	-	NC_000008.11:g.60856866A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys2530Arg	rs777303307	missense variant	-	NC_000008.11:g.60856869A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2531Gln	rs938384668	missense variant	-	NC_000008.11:g.60856872G>A	gnomAD
CHD7	Q9P2D1	p.Arg2531Trp	rs369550114	missense variant	-	NC_000008.11:g.60856871C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2532Met	RCV000768182	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60856875C>T	ClinVar
CHD7	Q9P2D1	p.Thr2532Met	RCV000724539	missense variant	-	NC_000008.11:g.60856875C>T	ClinVar
CHD7	Q9P2D1	p.Thr2532Met	rs201032343	missense variant	-	NC_000008.11:g.60856875C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2534Phe	rs1161958266	missense variant	-	NC_000008.11:g.60856882G>T	TOPMed
CHD7	Q9P2D1	p.Ser2535Arg	rs1554605162	missense variant	-	NC_000008.11:g.60856883A>C	-
CHD7	Q9P2D1	p.Ser2535Arg	RCV000504139	missense variant	-	NC_000008.11:g.60856883A>C	ClinVar
CHD7	Q9P2D1	p.Asp2538Asn	rs1173657826	missense variant	-	NC_000008.11:g.60860907G>A	gnomAD
CHD7	Q9P2D1	p.Ala2539Val	rs986284106	missense variant	-	NC_000008.11:g.60860911C>T	TOPMed
CHD7	Q9P2D1	p.Ala2544Ter	RCV000481551	frameshift	-	NC_000008.11:g.60860924del	ClinVar
CHD7	Q9P2D1	p.Glu2547Ter	RCV000406220	frameshift	-	NC_000008.11:g.60860936_60860946del	ClinVar
CHD7	Q9P2D1	p.Asp2548His	rs1167563833	missense variant	-	NC_000008.11:g.60860937G>C	TOPMed
CHD7	Q9P2D1	p.Ile2549Val	rs1430755213	missense variant	-	NC_000008.11:g.60860940A>G	gnomAD
CHD7	Q9P2D1	p.Ile2549Thr	rs374044223	missense variant	-	NC_000008.11:g.60860941T>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2550Ter	rs1554605973	stop gained	-	NC_000008.11:g.60860943G>T	-
CHD7	Q9P2D1	p.Glu2550Ter	RCV000659302	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60860943G>T	ClinVar
CHD7	Q9P2D1	p.Glu2550Ter	RCV000482479	frameshift	-	NC_000008.11:g.60860942dup	ClinVar
CHD7	Q9P2D1	p.Thr2551Asn	rs942070972	missense variant	-	NC_000008.11:g.60860947C>A	TOPMed
CHD7	Q9P2D1	p.Pro2553Ter	RCV000413712	frameshift	-	NC_000008.11:g.60860950dup	ClinVar
CHD7	Q9P2D1	p.Thr2554Lys	rs779951912	missense variant	-	NC_000008.11:g.60860956C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2555Ter	RCV000199327	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60860958del	ClinVar
CHD7	Q9P2D1	p.Arg2555Lys	rs1429070313	missense variant	-	NC_000008.11:g.60860959G>A	gnomAD
CHD7	Q9P2D1	p.Arg2555Gly	rs746789759	missense variant	-	NC_000008.11:g.60860958A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2556Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60860962A>G	NCI-TCGA
CHD7	Q9P2D1	p.Pro2558Leu	RCV000634436	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60860968C>T	ClinVar
CHD7	Q9P2D1	p.Pro2558Ser	rs1341387039	missense variant	-	NC_000008.11:g.60860967C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2558Leu	rs776711005	missense variant	-	NC_000008.11:g.60860968C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2558Leu	RCV000766024	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60860968C>T	ClinVar
CHD7	Q9P2D1	p.Pro2560Ser	rs748036782	missense variant	-	NC_000008.11:g.60860973C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2561Arg	rs774255090	missense variant	-	NC_000008.11:g.60860976G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2561Glu	rs1046787337	missense variant	-	NC_000008.11:g.60860977G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2567Ile	rs767610555	missense variant	-	NC_000008.11:g.60860995C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2568Gln	rs369807016	missense variant	-	NC_000008.11:g.60860998G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2568Trp	rs775888715	missense variant	-	NC_000008.11:g.60860997C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2570Ala	rs761034050	missense variant	-	NC_000008.11:g.60861003C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2570Ser	rs761034050	missense variant	-	NC_000008.11:g.60861003C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile2572Thr	rs757721295	missense variant	-	NC_000008.11:g.60861010T>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile2572Val	rs754365916	missense variant	-	NC_000008.11:g.60861009A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile2572Met	rs373347581	missense variant	-	NC_000008.11:g.60861011C>G	TOPMed
CHD7	Q9P2D1	p.Asn2573Ser	rs764847747	missense variant	-	NC_000008.11:g.60861013A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2574Ile	rs375629413	missense variant	-	NC_000008.11:g.60861015C>A	ESP,ExAC,TOPMed
CHD7	Q9P2D1	p.Glu2575Gln	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60861018G>C	NCI-TCGA
CHD7	Q9P2D1	p.Arg2579Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60861031G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly2582Ala	rs1408626113	missense variant	-	NC_000008.11:g.60861040G>C	TOPMed
CHD7	Q9P2D1	p.Asp2584Glu	rs1427104456	missense variant	-	NC_000008.11:g.60861047T>A	TOPMed
CHD7	Q9P2D1	p.Pro2586Ser	COSM1489364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60861051C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Lys2587Glu	rs1437286695	missense variant	-	NC_000008.11:g.60861054A>G	gnomAD
CHD7	Q9P2D1	p.Asn2588Ser	rs1554606033	missense variant	-	NC_000008.11:g.60861058A>G	-
CHD7	Q9P2D1	p.Asn2588Ser	RCV000537112	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60861058A>G	ClinVar
CHD7	Q9P2D1	p.Asn2588IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60861054A>-	NCI-TCGA
CHD7	Q9P2D1	p.Lys2589Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60861062G>T	NCI-TCGA
CHD7	Q9P2D1	p.Asp2590Asn	rs1278990404	missense variant	-	NC_000008.11:g.60861063G>A	gnomAD
CHD7	Q9P2D1	p.Asp2590His	rs1278990404	missense variant	-	NC_000008.11:g.60861063G>C	gnomAD
CHD7	Q9P2D1	p.Val2592Ala	rs754831330	missense variant	-	NC_000008.11:g.60861070T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2593Ala	rs781080546	missense variant	-	NC_000008.11:g.60861073A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Trp2594Cys	rs769587871	missense variant	-	NC_000008.11:g.60861077G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Trp2594Leu	rs748126701	missense variant	-	NC_000008.11:g.60861076G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Trp2594Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60861077G>A	NCI-TCGA
CHD7	Q9P2D1	p.Leu2597Gln	rs1490400384	missense variant	-	NC_000008.11:g.60861085T>A	gnomAD
CHD7	Q9P2D1	p.Leu2597Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60861084C>A	NCI-TCGA
CHD7	Q9P2D1	p.Pro2599AlaGlu	NCI-TCGA novel	insertion	-	NC_000008.11:g.60861092_60861093insGCAGAA	NCI-TCGA
CHD7	Q9P2D1	p.Tyr2601Ter	rs886040998	stop gained	-	NC_000008.11:g.60861097dup	-
CHD7	Q9P2D1	p.Tyr2601Ter	RCV000258114	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60861097dup	ClinVar
CHD7	Q9P2D1	p.Tyr2601Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60861097A>G	NCI-TCGA
CHD7	Q9P2D1	p.Tyr2601Ter	RCV000760800	nonsense	-	NC_000008.11:g.60861098C>A	ClinVar
CHD7	Q9P2D1	p.Asp2604Tyr	rs775704728	missense variant	-	NC_000008.11:g.60861105G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Met2605Thr	rs760837892	missense variant	-	NC_000008.11:g.60861109T>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2605Arg	rs760837892	missense variant	-	NC_000008.11:g.60861109T>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2607Gly	rs1424434796	missense variant	-	NC_000008.11:g.60861114A>G	gnomAD
CHD7	Q9P2D1	p.Ser2607Ter	RCV000341981	frameshift	-	NC_000008.11:g.60861115del	ClinVar
CHD7	Q9P2D1	p.Asn2612Ser	rs1385310821	missense variant	-	NC_000008.11:g.60862200A>G	TOPMed
CHD7	Q9P2D1	p.Asp2614Ter	RCV000255120	frameshift	-	NC_000008.11:g.60862205del	ClinVar
CHD7	Q9P2D1	p.Val2615Met	rs1202295047	missense variant	-	NC_000008.11:g.60862208G>A	gnomAD
CHD7	Q9P2D1	p.Leu2616Arg	COSM6181203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60862212T>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Phe2617Leu	rs565642773	missense variant	-	NC_000008.11:g.60862214T>C	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2619Pro	rs375826047	missense variant	-	NC_000008.11:g.60862220T>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gln2621Glu	rs1476487723	missense variant	-	NC_000008.11:g.60862226C>G	gnomAD
CHD7	Q9P2D1	p.Gln2621Arg	rs752602502	missense variant	-	NC_000008.11:g.60862227A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro2623Leu	rs1468230389	missense variant	-	NC_000008.11:g.60862233C>T	gnomAD
CHD7	Q9P2D1	p.Arg2627Ter	RCV000853243	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862244C>T	ClinVar
CHD7	Q9P2D1	p.Arg2627Gln	rs368302454	missense variant	-	NC_000008.11:g.60862245G>A	ESP,gnomAD
CHD7	Q9P2D1	p.Arg2627Ter	RCV000482183	nonsense	-	NC_000008.11:g.60862244C>T	ClinVar
CHD7	Q9P2D1	p.Arg2627Ter	rs1064793346	stop gained	-	NC_000008.11:g.60862244C>T	-
CHD7	Q9P2D1	p.His2628Arg	rs777577551	missense variant	-	NC_000008.11:g.60862248A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2631Ter	RCV000317612	nonsense	-	NC_000008.11:g.60862256C>T	ClinVar
CHD7	Q9P2D1	p.Arg2631Gln	rs1327851196	missense variant	-	NC_000008.11:g.60862257G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2631Ter	rs587783457	stop gained	-	NC_000008.11:g.60862256C>T	-
CHD7	Q9P2D1	p.Arg2631Ter	RCV000145696	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862256C>T	ClinVar
CHD7	Q9P2D1	p.Asn2632His	COSM1457750	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60862259A>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn2634Asp	rs1385544270	missense variant	-	NC_000008.11:g.60862265A>G	TOPMed
CHD7	Q9P2D1	p.Asn2634Ser	rs1012221437	missense variant	-	NC_000008.11:g.60862266A>G	TOPMed
CHD7	Q9P2D1	p.Lys2635Ter	COSM6181201	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60862268A>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Thr2640Ala	rs536569775	missense variant	-	NC_000008.11:g.60862283A>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Thr2642Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60862290C>T	NCI-TCGA
CHD7	Q9P2D1	p.Glu2644Lys	rs1282129968	missense variant	-	NC_000008.11:g.60862295G>A	gnomAD
CHD7	Q9P2D1	p.Arg2646Lys	rs371857370	missense variant	-	NC_000008.11:g.60862302G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2648Ter	RCV000194957	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60862305_60862306dup	ClinVar
CHD7	Q9P2D1	p.Val2649Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60862311T>A	NCI-TCGA
CHD7	Q9P2D1	p.Asn2651Ser	rs780161032	missense variant	-	NC_000008.11:g.60862317A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2651Ser	RCV000258143	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60862317A>G	ClinVar
CHD7	Q9P2D1	p.Arg2653Ter	rs587783458	stop gained	-	NC_000008.11:g.60862322C>T	-
CHD7	Q9P2D1	p.Arg2653Gln	rs747082615	missense variant	-	NC_000008.11:g.60862323G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Arg2653Gln	VAR_068153	missense variant	-	NC_000008.11:g.60862323G>A	UniProt
CHD7	Q9P2D1	p.Arg2653Gln	rs747082615	missense variant	-	NC_000008.11:g.60862323G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2653Ter	RCV000145697	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862322C>T	ClinVar
CHD7	Q9P2D1	p.Arg2653Ter	RCV000578500	nonsense	-	NC_000008.11:g.60862322C>T	ClinVar
CHD7	Q9P2D1	p.Lys2657Arg	rs768936388	missense variant	-	NC_000008.11:g.60862335A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Met2658Val	rs1056534038	missense variant	-	NC_000008.11:g.60862548A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2662Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60862560A>G	NCI-TCGA
CHD7	Q9P2D1	p.Ala2663Val	rs1305494953	missense variant	-	NC_000008.11:g.60862564C>T	gnomAD
CHD7	Q9P2D1	p.Pro2665Ala	rs752315913	missense variant	-	NC_000008.11:g.60862569C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Lys2667Gln	rs1420092626	missense variant	-	NC_000008.11:g.60862575A>C	gnomAD
CHD7	Q9P2D1	p.Asp2668Glu	rs1363359466	missense variant	-	NC_000008.11:g.60862580T>G	gnomAD
CHD7	Q9P2D1	p.Trp2672Ter	RCV000767865	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862591G>A	ClinVar
CHD7	Q9P2D1	p.Glu2675Ter	RCV000599064	nonsense	-	NC_000008.11:g.60862599G>T	ClinVar
CHD7	Q9P2D1	p.Glu2675Ala	rs1012252685	missense variant	-	NC_000008.11:g.60862600A>C	TOPMed
CHD7	Q9P2D1	p.Glu2675Ter	rs748504264	stop gained	-	NC_000008.11:g.60862599G>T	-
CHD7	Q9P2D1	p.Asn2676Ser	rs1293649174	missense variant	-	NC_000008.11:g.60862603A>G	gnomAD
CHD7	Q9P2D1	p.Glu2678Asp	rs559053565	missense variant	-	NC_000008.11:g.60862610A>C	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2678Gln	rs1273425384	missense variant	-	NC_000008.11:g.60862608G>C	gnomAD
CHD7	Q9P2D1	p.Ala2680Ser	rs757246925	missense variant	-	NC_000008.11:g.60862614G>T	ExAC
CHD7	Q9P2D1	p.Pro2683Ser	rs201319489	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60862623C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Pro2683Ser	VAR_068154	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60862623C>T	UniProt
CHD7	Q9P2D1	p.Pro2683Ser	rs201319489	missense variant	-	NC_000008.11:g.60862623C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2683Ser	RCV000384139	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60862623C>T	ClinVar
CHD7	Q9P2D1	p.Asp2684Glu	rs1179524910	missense variant	-	NC_000008.11:g.60862628C>G	TOPMed
CHD7	Q9P2D1	p.Trp2685Ter	rs587783459	stop gained	-	NC_000008.11:g.60862631G>A	-
CHD7	Q9P2D1	p.Trp2685Ter	RCV000145698	nonsense	CHARGE association (CHARGE)	NC_000008.11:g.60862631G>A	ClinVar
CHD7	Q9P2D1	p.Trp2685Ter	rs1379672442	stop gained	-	NC_000008.11:g.60862630G>A	gnomAD
CHD7	Q9P2D1	p.Ile2688Arg	rs755066542	missense variant	-	NC_000008.11:g.60862639T>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile2688Thr	rs755066542	missense variant	-	NC_000008.11:g.60862639T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Ile2688Ter	RCV000391153	frameshift	-	NC_000008.11:g.60862638dup	ClinVar
CHD7	Q9P2D1	p.Ile2688Arg	RCV000414784	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60862639T>G	ClinVar
CHD7	Q9P2D1	p.Ile2688Ter	RCV000657564	frameshift	-	NC_000008.11:g.60862637_60862638TA[1]	ClinVar
CHD7	Q9P2D1	p.Lys2690Ter	RCV000551048	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60862643del	ClinVar
CHD7	Q9P2D1	p.Gly2693Arg	RCV000686272	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865016G>C	ClinVar
CHD7	Q9P2D1	p.Gly2693Ala	rs1278912625	missense variant	-	NC_000008.11:g.60865017G>C	TOPMed
CHD7	Q9P2D1	p.Pro2696Ter	RCV000659303	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865026del	ClinVar
CHD7	Q9P2D1	p.Pro2696Ser	rs1225365013	missense variant	-	NC_000008.11:g.60865025C>T	gnomAD
CHD7	Q9P2D1	p.Glu2697Ala	rs1005662057	missense variant	-	NC_000008.11:g.60865029A>C	TOPMed
CHD7	Q9P2D1	p.Glu2697Gly	COSM3900884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865029A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ser2698Leu	rs1260054726	missense variant	-	NC_000008.11:g.60865032C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Met2699Lys	COSM1489366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865035T>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg2702Cys	rs1373315351	missense variant	-	NC_000008.11:g.60865043C>T	TOPMed
CHD7	Q9P2D1	p.Arg2702His	RCV000733278	missense variant	-	NC_000008.11:g.60865044G>A	ClinVar
CHD7	Q9P2D1	p.Leu2703Phe	rs1202955569	missense variant	-	NC_000008.11:g.60865046C>T	gnomAD
CHD7	Q9P2D1	p.Val2708Ile	rs1484121127	missense variant	-	NC_000008.11:g.60865061G>A	gnomAD
CHD7	Q9P2D1	p.Val2708Ala	rs761604029	missense variant	-	NC_000008.11:g.60865062T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2710Leu	COSM6181200	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865068G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Arg2710Trp	rs1418386669	missense variant	-	NC_000008.11:g.60865067C>T	gnomAD
CHD7	Q9P2D1	p.Arg2710Pro	rs1426314940	missense variant	-	NC_000008.11:g.60865068G>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2710Gln	rs1426314940	missense variant	-	NC_000008.11:g.60865068G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2711Arg	rs1418830724	missense variant	-	NC_000008.11:g.60865070G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2711Arg	rs1418830724	missense variant	-	NC_000008.11:g.60865070G>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2712Lys	rs1423685412	missense variant	-	NC_000008.11:g.60865073G>A	gnomAD
CHD7	Q9P2D1	p.Gly2713Arg	rs764956903	missense variant	-	NC_000008.11:g.60865076G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2714Glu	rs573554562	missense variant	-	NC_000008.11:g.60865080C>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2714Thr	rs750380325	missense variant	-	NC_000008.11:g.60865079G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2714Val	rs573554562	missense variant	-	NC_000008.11:g.60865080C>T	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Arg2720Thr	rs1303742795	missense variant	-	NC_000008.11:g.60865098G>C	gnomAD
CHD7	Q9P2D1	p.Arg2720Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865098G>T	NCI-TCGA
CHD7	Q9P2D1	p.Pro2721Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865101C>T	NCI-TCGA
CHD7	Q9P2D1	p.Ser2723Gly	rs752796467	missense variant	-	NC_000008.11:g.60865106A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2723Asn	rs756347672	missense variant	-	NC_000008.11:g.60865107G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2723Thr	rs756347672	missense variant	-	NC_000008.11:g.60865107G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2726Thr	rs749452262	missense variant	-	NC_000008.11:g.60865115G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Arg2727Lys	rs1217616477	missense variant	-	NC_000008.11:g.60865119G>A	TOPMed
CHD7	Q9P2D1	p.Ala2730Val	rs779381935	missense variant	-	NC_000008.11:g.60865128C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2730Thr	rs757707495	missense variant	-	NC_000008.11:g.60865127G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2730Glu	rs779381935	missense variant	-	NC_000008.11:g.60865128C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2731Gly	rs1210582890	missense variant	-	NC_000008.11:g.60865131C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2731Val	rs1210582890	missense variant	-	NC_000008.11:g.60865131C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2733Thr	rs370231679	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60865136G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Ala2733Thr	VAR_068156	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60865136G>A	UniProt
CHD7	Q9P2D1	p.Ala2733Thr	rs370231679	missense variant	-	NC_000008.11:g.60865136G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2736Thr	rs1263339156	missense variant	-	NC_000008.11:g.60865145G>A	gnomAD
CHD7	Q9P2D1	p.Thr2738Met	rs761409446	missense variant	-	NC_000008.11:g.60865152C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2738Met	RCV000321538	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865152C>T	ClinVar
CHD7	Q9P2D1	p.Thr2738Met	RCV000502071	missense variant	-	NC_000008.11:g.60865152C>T	ClinVar
CHD7	Q9P2D1	p.Thr2738Met	RCV000282792	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865152C>T	ClinVar
CHD7	Q9P2D1	p.Asn2742Ser	rs1416636387	missense variant	-	NC_000008.11:g.60865164A>G	gnomAD
CHD7	Q9P2D1	p.Asn2742His	rs772957679	missense variant	-	NC_000008.11:g.60865163A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Val2746Glu	rs1418163912	missense variant	-	NC_000008.11:g.60865176T>A	gnomAD
CHD7	Q9P2D1	p.Val2746Met	rs762924490	missense variant	-	NC_000008.11:g.60865175G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2746Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865175G>T	NCI-TCGA
CHD7	Q9P2D1	p.Leu2749Met	COSM1100907	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865184C>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu2749Pro	rs1411850654	missense variant	-	NC_000008.11:g.60865185T>C	TOPMed
CHD7	Q9P2D1	p.Phe2750Leu	RCV000634450	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865189T>G	ClinVar
CHD7	Q9P2D1	p.Phe2750Leu	rs3750308	missense variant	-	NC_000008.11:g.60865189T>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Phe2750Leu	VAR_033251	missense variant	-	NC_000008.11:g.60865189T>G	UniProt
CHD7	Q9P2D1	p.Phe2750Leu	rs3750308	missense variant	-	NC_000008.11:g.60865189T>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2751Pro	rs752785620	missense variant	-	NC_000008.11:g.60865190G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2752Arg	rs373124679	missense variant	-	NC_000008.11:g.60865193G>A	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2752Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.60865193G>T	NCI-TCGA
CHD7	Q9P2D1	p.Met2753Thr	rs764021765	missense variant	-	NC_000008.11:g.60865197T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Met2753Arg	rs764021765	missense variant	-	NC_000008.11:g.60865197T>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Met2753Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865198G>T	NCI-TCGA
CHD7	Q9P2D1	p.Thr2756Met	rs757521506	missense variant	-	NC_000008.11:g.60865206C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2756Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865206C>G	NCI-TCGA
CHD7	Q9P2D1	p.Ser2757Arg	rs779470909	missense variant	-	NC_000008.11:g.60865208A>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2758Phe	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865211C>T	NCI-TCGA
CHD7	Q9P2D1	p.Gln2759Pro	rs1469714222	missense variant	-	NC_000008.11:g.60865215A>C	TOPMed
CHD7	Q9P2D1	p.Gln2759His	rs750806167	missense variant	-	NC_000008.11:g.60865216G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn2760His	rs1218441285	missense variant	-	NC_000008.11:g.60865217A>C	gnomAD
CHD7	Q9P2D1	p.Leu2761Val	rs1273756434	missense variant	-	NC_000008.11:g.60865220C>G	TOPMed
CHD7	Q9P2D1	p.Gln2762His	rs758898311	missense variant	-	NC_000008.11:g.60865225G>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln2762Glu	rs1286287151	missense variant	-	NC_000008.11:g.60865223C>G	gnomAD
CHD7	Q9P2D1	p.Gln2765His	rs375083875	missense variant	-	NC_000008.11:g.60865234G>C	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Gln2765His	rs375083875	missense variant	-	NC_000008.11:g.60865234G>T	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2767Phe	rs1192272840	missense variant	-	NC_000008.11:g.60865238C>T	gnomAD
CHD7	Q9P2D1	p.Gln2768His	rs768238208	missense variant	-	NC_000008.11:g.60865243G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2770Thr	rs369593429	missense variant	-	NC_000008.11:g.60865247G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2771Asp	rs372726062	missense variant	-	NC_000008.11:g.60865251G>A	ESP
CHD7	Q9P2D1	p.Leu2772Phe	rs769262633	missense variant	-	NC_000008.11:g.60865253C>T	gnomAD
CHD7	Q9P2D1	p.Met2773Val	rs1351681547	missense variant	-	NC_000008.11:g.60865256A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2774Ser	rs1437179253	missense variant	-	NC_000008.11:g.60865259G>A	gnomAD
CHD7	Q9P2D1	p.Pro2776Ser	RCV000634423	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865265C>T	ClinVar
CHD7	Q9P2D1	p.Pro2776Leu	rs1242086026	missense variant	-	NC_000008.11:g.60865266C>T	gnomAD
CHD7	Q9P2D1	p.Pro2776Ser	rs773045619	missense variant	-	NC_000008.11:g.60865265C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2778Val	rs762731699	missense variant	-	NC_000008.11:g.60865272G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2780Glu	rs775132352	missense variant	-	NC_000008.11:g.60865278C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2780Thr	rs1219796819	missense variant	-	NC_000008.11:g.60865277G>A	gnomAD
CHD7	Q9P2D1	p.Ala2780Val	rs775132352	missense variant	-	NC_000008.11:g.60865278C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2781Arg	rs1451693602	missense variant	-	NC_000008.11:g.60865281C>G	gnomAD
CHD7	Q9P2D1	p.Ala2782Val	rs1440876555	missense variant	-	NC_000008.11:g.60865284C>T	TOPMed
CHD7	Q9P2D1	p.Thr2784Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865289A>T	NCI-TCGA
CHD7	Q9P2D1	p.Ala2785Thr	rs935815422	missense variant	-	NC_000008.11:g.60865292G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2785Ser	rs935815422	missense variant	-	NC_000008.11:g.60865292G>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2786Arg	RCV000202970	missense variant	-	NC_000008.11:g.60865295G>A	ClinVar
CHD7	Q9P2D1	p.Gly2786Arg	RCV000782187	missense variant	-	NC_000008.11:g.60865295G>A	ClinVar
CHD7	Q9P2D1	p.Gly2786Arg	rs765315726	missense variant	-	NC_000008.11:g.60865295G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2787Ser	rs541570788	missense variant	-	NC_000008.11:g.60865298G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp2788Asn	rs373204105	missense variant	-	NC_000008.11:g.60865301G>A	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2789Val	RCV000177945	missense variant	-	NC_000008.11:g.60865305C>T	ClinVar
CHD7	Q9P2D1	p.Ala2789Val	RCV000796515	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865305C>T	ClinVar
CHD7	Q9P2D1	p.Ala2789Val	rs376934539	missense variant	-	NC_000008.11:g.60865305C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2789Gly	rs376934539	missense variant	-	NC_000008.11:g.60865305C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2789Thr	rs200140270	missense variant	-	NC_000008.11:g.60865304G>A	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Asn2791Ser	rs1204612063	missense variant	-	NC_000008.11:g.60865311A>G	TOPMed
CHD7	Q9P2D1	p.Asn2791Tyr	rs1448865643	missense variant	-	NC_000008.11:g.60865310A>T	gnomAD
CHD7	Q9P2D1	p.Ala2793Gly	rs774242976	missense variant	-	NC_000008.11:g.60865317C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2793Thr	rs1331868976	missense variant	-	NC_000008.11:g.60865316G>A	gnomAD
CHD7	Q9P2D1	p.Ala2794Val	rs1272068831	missense variant	-	NC_000008.11:g.60865320C>T	TOPMed
CHD7	Q9P2D1	p.Ala2794Ser	rs780726083	missense variant	-	NC_000008.11:g.60865319G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Val2795Met	rs553548797	missense variant	-	NC_000008.11:g.60865322G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2795Leu	rs553548797	missense variant	-	NC_000008.11:g.60865322G>C	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2797His	rs777405813	missense variant	-	NC_000008.11:g.60865329C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Pro2797Ser	rs769500488	missense variant	-	NC_000008.11:g.60865328C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2798Pro	rs748833021	missense variant	-	NC_000008.11:g.60865332T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Met2799Ile	COSM1472102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865336G>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly2802Glu	rs1239227862	missense variant	-	NC_000008.11:g.60865344G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2804Val	rs770781688	missense variant	-	NC_000008.11:g.60865350C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2805Ser	rs759567393	missense variant	-	NC_000008.11:g.60865352G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2806Val	rs45521933	missense variant	-	NC_000008.11:g.60865355C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2806Val	rs45521933	missense variant	-	NC_000008.11:g.60865355C>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Leu2806Val	VAR_068157	missense variant	-	NC_000008.11:g.60865355C>G	UniProt
CHD7	Q9P2D1	p.Leu2806Val	RCV000590628	missense variant	-	NC_000008.11:g.60865355C>G	ClinVar
CHD7	Q9P2D1	p.Leu2806Val	RCV000282690	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865355C>G	ClinVar
CHD7	Q9P2D1	p.Leu2806Val	RCV000716412	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60865355C>G	ClinVar
CHD7	Q9P2D1	p.Leu2806Val	RCV000349365	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865355C>G	ClinVar
CHD7	Q9P2D1	p.Pro2807Leu	rs1467174474	missense variant	-	NC_000008.11:g.60865359C>T	gnomAD
CHD7	Q9P2D1	p.Asn2808Lys	rs773594482	missense variant	-	NC_000008.11:g.60865363C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2808Ser	rs368224943	missense variant	-	NC_000008.11:g.60865362A>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2809Met	rs763048936	missense variant	-	NC_000008.11:g.60865364G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2809Leu	rs763048936	missense variant	-	NC_000008.11:g.60865364G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe2810Ile	rs566554048	missense variant	-	NC_000008.11:g.60865367T>A	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2811Ser	rs751843206	missense variant	-	NC_000008.11:g.60865370G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2812Phe	rs755563758	missense variant	-	NC_000008.11:g.60865375G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2813Ser	rs1436868650	missense variant	-	NC_000008.11:g.60865376G>A	TOPMed
CHD7	Q9P2D1	p.Gly2813Val	rs768004023	missense variant	-	NC_000008.11:g.60865377G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2814Arg	rs964405365	missense variant	-	NC_000008.11:g.60865379G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2817Ile	COSM751033	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865389A>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn2817Ser	COSM3367386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865389A>G	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn2818Lys	rs1261230568	missense variant	-	NC_000008.11:g.60865393C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2818Ser	rs749000051	missense variant	-	NC_000008.11:g.60865392A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn2818Lys	rs1261230568	missense variant	-	NC_000008.11:g.60865393C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2819Ser	COSM3925443	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865394C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu2820Ter	RCV000258127	frameshift	Kallmann syndrome 5 (KAL5)	NC_000008.11:g.60865395_60865396CT[1]	ClinVar
CHD7	Q9P2D1	p.Ala2822Ter	RCV000177948	frameshift	-	NC_000008.11:g.60865392_60865402dup	ClinVar
CHD7	Q9P2D1	p.Thr2824Ala	rs1478846467	missense variant	-	NC_000008.11:g.60865409A>G	gnomAD
CHD7	Q9P2D1	p.Gly2825Val	rs756839375	missense variant	-	NC_000008.11:g.60865413G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn2826Ser	RCV000471269	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865416A>G	ClinVar
CHD7	Q9P2D1	p.Asn2826Ser	rs370129047	missense variant	-	NC_000008.11:g.60865416A>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2827Ala	rs1373512004	missense variant	-	NC_000008.11:g.60865418A>G	gnomAD
CHD7	Q9P2D1	p.Ala2830Thr	RCV000390696	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865427G>A	ClinVar
CHD7	Q9P2D1	p.Ala2830Thr	RCV000314353	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865427G>A	ClinVar
CHD7	Q9P2D1	p.Ala2830Thr	rs533600930	missense variant	-	NC_000008.11:g.60865427G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2831Cys	rs1399809223	missense variant	-	NC_000008.11:g.60865431C>G	gnomAD
CHD7	Q9P2D1	p.Ser2831Cys	RCV000634412	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865431C>G	ClinVar
CHD7	Q9P2D1	p.Ser2832Asn	rs746897837	missense variant	-	NC_000008.11:g.60865434G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gln2833Pro	VAR_072969	Missense	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]	-	UniProt
CHD7	Q9P2D1	p.Pro2836Leu	rs925177812	missense variant	-	NC_000008.11:g.60865446C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2837Lys	rs773138428	missense variant	-	NC_000008.11:g.60865448G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser2839Asn	rs1055076550	missense variant	-	NC_000008.11:g.60865455G>A	gnomAD
CHD7	Q9P2D1	p.Ser2839Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865456C>G	NCI-TCGA
CHD7	Q9P2D1	p.Thr2840Pro	rs1231667845	missense variant	-	NC_000008.11:g.60865457A>C	gnomAD
CHD7	Q9P2D1	p.Thr2840Ter	RCV000479418	frameshift	-	NC_000008.11:g.60865457del	ClinVar
CHD7	Q9P2D1	p.Thr2840Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865458C>G	NCI-TCGA
CHD7	Q9P2D1	p.Ser2841Ter	rs763280915	stop gained	-	NC_000008.11:g.60865461C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ser2841Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865460T>C	NCI-TCGA
CHD7	Q9P2D1	p.Glu2844Asp	COSM1100910	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865471G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asn2848Lys	rs1346169205	missense variant	-	NC_000008.11:g.60865483T>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2848Lys	rs1346169205	missense variant	-	NC_000008.11:g.60865483T>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2850Ter	RCV000701495	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865488_60865494del	ClinVar
CHD7	Q9P2D1	p.Asp2852Asn	rs1284184405	missense variant	-	NC_000008.11:g.60865493G>A	gnomAD
CHD7	Q9P2D1	p.Glu2853Gly	rs759820854	missense variant	-	NC_000008.11:g.60865497A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2853Lys	rs774843956	missense variant	-	NC_000008.11:g.60865496G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2854Lys	rs1222693383	missense variant	-	NC_000008.11:g.60865501C>G	gnomAD
CHD7	Q9P2D1	p.Asp2856Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865507C>A	NCI-TCGA
CHD7	Q9P2D1	p.Ser2857Ala	VAR_068158	Missense	-	-	UniProt
CHD7	Q9P2D1	p.Ser2860LysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60865513_60865514insA	NCI-TCGA
CHD7	Q9P2D1	p.Asp2862Val	rs1024233305	missense variant	-	NC_000008.11:g.60865524A>T	TOPMed
CHD7	Q9P2D1	p.Asp2862His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865523G>C	NCI-TCGA
CHD7	Q9P2D1	p.Ala2863Asp	rs970020036	missense variant	-	NC_000008.11:g.60865527C>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2864Leu	rs367756884	missense variant	-	NC_000008.11:g.60865529G>C	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2864Ile	rs367756884	missense variant	-	NC_000008.11:g.60865529G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2865Leu	rs147534616	missense variant	-	NC_000008.11:g.60865533C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2869Pro	rs778436403	missense variant	-	NC_000008.11:g.60865544T>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2870Val	rs745469585	missense variant	-	NC_000008.11:g.60865548C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Val2874Phe	rs746986165	missense variant	-	NC_000008.11:g.60865559G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2875Cys	COSM6113616	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865562G>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Gly2875Arg	rs768688793	missense variant	-	NC_000008.11:g.60865562G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2876Asp	COSM1100916	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865566C>A	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Ala2876Ser	rs1356174818	missense variant	-	NC_000008.11:g.60865565G>T	gnomAD
CHD7	Q9P2D1	p.Thr2878Ala	rs773395000	missense variant	-	NC_000008.11:g.60865571A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2880Leu	rs113938624	missense variant	-	NC_000008.11:g.60865578C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2880Leu	rs113938624	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60865578C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Pro2880Leu	VAR_054626	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60865578C>T	UniProt
CHD7	Q9P2D1	p.Pro2880Ser	rs369476145	missense variant	-	NC_000008.11:g.60865577C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2880Leu	RCV000723791	missense variant	-	NC_000008.11:g.60865578C>T	ClinVar
CHD7	Q9P2D1	p.Pro2880Leu	RCV000153029	missense variant	-	NC_000008.11:g.60865578C>T	ClinVar
CHD7	Q9P2D1	p.Pro2880Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865577C>A	NCI-TCGA
CHD7	Q9P2D1	p.Gly2882Arg	rs912988587	missense variant	-	NC_000008.11:g.60865583G>A	TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2884Arg	rs775800575	missense variant	-	NC_000008.11:g.60865590C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Asn2886Asp	rs1163655041	missense variant	-	NC_000008.11:g.60865595A>G	gnomAD
CHD7	Q9P2D1	p.Pro2887Leu	rs754307009	missense variant	-	NC_000008.11:g.60865599C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2888Pro	rs764758566	missense variant	-	NC_000008.11:g.60865602T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2888Gln	rs764758566	missense variant	-	NC_000008.11:g.60865602T>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2889Gly	rs772828151	missense variant	-	NC_000008.11:g.60865605C>G	TOPMed
CHD7	Q9P2D1	p.Asn2891Ser	RCV000321183	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865611A>G	ClinVar
CHD7	Q9P2D1	p.Asn2891Ser	RCV000767108	missense variant	-	NC_000008.11:g.60865611A>G	ClinVar
CHD7	Q9P2D1	p.Asn2891Thr	RCV000177946	missense variant	-	NC_000008.11:g.60865611A>C	ClinVar
CHD7	Q9P2D1	p.Asn2891Ser	rs202039728	missense variant	-	NC_000008.11:g.60865611A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Asn2891Ser	RCV000273174	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865611A>G	ClinVar
CHD7	Q9P2D1	p.Asn2891Thr	rs202039728	missense variant	-	NC_000008.11:g.60865611A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2894Phe	rs1446663182	missense variant	-	NC_000008.11:g.60865619C>T	gnomAD
CHD7	Q9P2D1	p.Leu2895Ter	RCV000002117	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865621_60865622insT	ClinVar
CHD7	Q9P2D1	p.Ser2896Pro	COSM70170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865625T>C	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Thr2897Ala	rs751382938	missense variant	-	NC_000008.11:g.60865628A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Met2898Val	rs755028719	missense variant	-	NC_000008.11:g.60865631A>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2900Leu	rs780993039	missense variant	-	NC_000008.11:g.60865638C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Phe2903Leu	rs748057667	missense variant	-	NC_000008.11:g.60865648C>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Tyr2904Cys	rs1266086793	missense variant	-	NC_000008.11:g.60865650A>G	gnomAD
CHD7	Q9P2D1	p.Ser2906Phe	COSM3650088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865656C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Pro2911Ser	rs779009305	missense variant	-	NC_000008.11:g.60865670C>T	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Pro2911Ter	RCV000258123	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865669_60865670del	ClinVar
CHD7	Q9P2D1	p.Pro2911Thr	rs779009305	missense variant	-	NC_000008.11:g.60865670C>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2914Arg	rs187751757	missense variant	-	NC_000008.11:g.60865679G>C	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2914Arg	rs187751757	missense variant	-	NC_000008.11:g.60865679G>A	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2914Arg	RCV000359572	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865679G>A	ClinVar
CHD7	Q9P2D1	p.Gly2914Arg	RCV000612659	missense variant	-	NC_000008.11:g.60865679G>A	ClinVar
CHD7	Q9P2D1	p.Gly2914Arg	RCV000719027	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60865679G>A	ClinVar
CHD7	Q9P2D1	p.Gly2914Arg	RCV000267205	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865679G>A	ClinVar
CHD7	Q9P2D1	p.Gly2914Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865680G>T	NCI-TCGA
CHD7	Q9P2D1	p.Gly2915Val	rs775900929	missense variant	-	NC_000008.11:g.60865683G>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2915Glu	rs775900929	missense variant	-	NC_000008.11:g.60865683G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2916Ter	RCV000659304	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865683dup	ClinVar
CHD7	Q9P2D1	p.Thr2917Arg	rs990589419	missense variant	-	NC_000008.11:g.60865689C>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Thr2917Met	rs990589419	missense variant	-	NC_000008.11:g.60865689C>T	TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2920Ala	rs769008751	missense variant	-	NC_000008.11:g.60865698G>C	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe2921Leu	rs1264986011	missense variant	-	NC_000008.11:g.60865702C>G	TOPMed
CHD7	Q9P2D1	p.Ala2923Thr	rs1242867481	missense variant	-	NC_000008.11:g.60865706G>A	TOPMed
CHD7	Q9P2D1	p.Ala2925Thr	rs762344310	missense variant	-	NC_000008.11:g.60865712G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ala2925Val	RCV000704841	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865713C>T	ClinVar
CHD7	Q9P2D1	p.Gln2928Arg	rs749935456	missense variant	-	NC_000008.11:g.60865722A>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Ala2930Val	COSM1100919	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865728C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Val2931Ala	rs754831415	missense variant	-	NC_000008.11:g.60865731T>C	ExAC,gnomAD
CHD7	Q9P2D1	p.Val2931Met	rs370271088	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60865730G>A	UniProt,dbSNP
CHD7	Q9P2D1	p.Val2931Met	VAR_068159	missense variant	CHARGE syndrome (CHARGES)	NC_000008.11:g.60865730G>A	UniProt
CHD7	Q9P2D1	p.Val2931Met	rs370271088	missense variant	-	NC_000008.11:g.60865730G>A	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2933Cys	rs374344463	missense variant	-	NC_000008.11:g.60865737C>G	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2933Phe	rs374344463	missense variant	-	NC_000008.11:g.60865737C>T	ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2934Arg	rs778908675	missense variant	-	NC_000008.11:g.60865741C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ser2934Cys	rs1024326558	missense variant	-	NC_000008.11:g.60865739A>T	TOPMed
CHD7	Q9P2D1	p.Glu2935Lys	rs745944842	missense variant	-	NC_000008.11:g.60865742G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2936Gly	rs538431512	missense variant	-	NC_000008.11:g.60865746A>G	1000Genomes,ExAC,gnomAD
CHD7	Q9P2D1	p.Lys2937Gln	rs1182074974	missense variant	-	NC_000008.11:g.60865748A>C	gnomAD
CHD7	Q9P2D1	p.Lys2941Glu	RCV000825897	missense variant	-	NC_000008.11:g.60865760A>G	ClinVar
CHD7	Q9P2D1	p.Lys2941Glu	RCV000177949	missense variant	-	NC_000008.11:g.60865760A>G	ClinVar
CHD7	Q9P2D1	p.Lys2941Arg	rs1476556109	missense variant	-	NC_000008.11:g.60865761A>G	gnomAD
CHD7	Q9P2D1	p.Lys2941Glu	rs201793562	missense variant	-	NC_000008.11:g.60865760A>G	1000Genomes,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Gly2944Ala	rs1426433349	missense variant	-	NC_000008.11:g.60865770G>C	gnomAD
CHD7	Q9P2D1	p.Pro2946Ser	rs1410995937	missense variant	-	NC_000008.11:g.60865775C>T	gnomAD
CHD7	Q9P2D1	p.Pro2946Arg	rs768935496	missense variant	-	NC_000008.11:g.60865776C>G	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Phe2947Leu	rs1452398427	missense variant	-	NC_000008.11:g.60865778T>C	gnomAD
CHD7	Q9P2D1	p.Lys2948Glu	rs1467824778	missense variant	-	NC_000008.11:g.60865781A>G	gnomAD
CHD7	Q9P2D1	p.Lys2948Glu	rs1467824778	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60865781A>G	UniProt,dbSNP
CHD7	Q9P2D1	p.Lys2948Glu	VAR_054627	missense variant	Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)	NC_000008.11:g.60865781A>G	UniProt
CHD7	Q9P2D1	p.Glu2951Ala	rs1340075901	missense variant	-	NC_000008.11:g.60865791A>C	gnomAD
CHD7	Q9P2D1	p.Thr2952Ser	rs748655442	missense variant	-	NC_000008.11:g.60865794C>G	ExAC,gnomAD
CHD7	Q9P2D1	p.Thr2952Ser	RCV000323991	missense variant	Hypogonadism with anosmia (KS)	NC_000008.11:g.60865794C>G	ClinVar
CHD7	Q9P2D1	p.Thr2952Ala	rs1398254316	missense variant	-	NC_000008.11:g.60865793A>G	gnomAD
CHD7	Q9P2D1	p.Thr2952Ser	RCV000371687	missense variant	CHARGE association (CHARGE)	NC_000008.11:g.60865794C>G	ClinVar
CHD7	Q9P2D1	p.Gly2955Val	rs1001934196	missense variant	-	NC_000008.11:g.60865803G>T	TOPMed
CHD7	Q9P2D1	p.Asp2957Asn	rs762553908	missense variant	-	NC_000008.11:g.60865808G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Glu2959Lys	rs774166245	missense variant	-	NC_000008.11:g.60865814G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2960Gly	rs370914258	missense variant	-	NC_000008.11:g.60865818A>G	ESP,ExAC,gnomAD
CHD7	Q9P2D1	p.Asp2963Asn	rs1047837258	missense variant	-	NC_000008.11:g.60865826G>A	gnomAD
CHD7	Q9P2D1	p.Asp2963Tyr	rs1047837258	missense variant	-	NC_000008.11:g.60865826G>T	gnomAD
CHD7	Q9P2D1	p.Lys2964Met	rs1263237815	missense variant	-	NC_000008.11:g.60865830A>T	gnomAD
CHD7	Q9P2D1	p.Lys2964Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865830A>G	NCI-TCGA
CHD7	Q9P2D1	p.Ala2966Thr	rs1191108445	missense variant	-	NC_000008.11:g.60865835G>A	gnomAD
CHD7	Q9P2D1	p.Ala2966Val	rs1339771910	missense variant	-	NC_000008.11:g.60865836C>T	TOPMed
CHD7	Q9P2D1	p.Leu2970Phe	COSM3925444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.60865847C>T	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Leu2970His	rs1409024274	missense variant	-	NC_000008.11:g.60865848T>A	gnomAD
CHD7	Q9P2D1	p.Leu2971Ser	rs1435312516	missense variant	-	NC_000008.11:g.60865851T>C	gnomAD
CHD7	Q9P2D1	p.Glu2974Lys	rs756064672	missense variant	-	NC_000008.11:g.60865859G>A	ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Ile2975Thr	rs1418064964	missense variant	-	NC_000008.11:g.60865863T>C	gnomAD
CHD7	Q9P2D1	p.Gly2978Ser	rs1320946658	missense variant	-	NC_000008.11:g.60865871G>A	TOPMed
CHD7	Q9P2D1	p.Gly2978Cys	rs1320946658	missense variant	-	NC_000008.11:g.60865871G>T	TOPMed
CHD7	Q9P2D1	p.Gly2978Val	rs1392645019	missense variant	-	NC_000008.11:g.60865872G>T	TOPMed
CHD7	Q9P2D1	p.Gly2978Ser	RCV000623006	missense variant	Inborn genetic diseases	NC_000008.11:g.60865871G>A	ClinVar
CHD7	Q9P2D1	p.Ser2983Leu	rs764024077	missense variant	-	NC_000008.11:g.60865887C>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Leu2984Phe	RCV000081862	missense variant	-	NC_000008.11:g.60865889C>T	ClinVar
CHD7	Q9P2D1	p.Leu2984Phe	RCV000514783	missense variant	-	NC_000008.11:g.60865889C>T	ClinVar
CHD7	Q9P2D1	p.Leu2984Phe	rs184814820	missense variant	-	NC_000008.11:g.60865889C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
CHD7	Q9P2D1	p.Leu2984Phe	rs184814820	missense variant	-	NC_000008.11:g.60865889C>T	UniProt,dbSNP
CHD7	Q9P2D1	p.Leu2984Phe	VAR_068160	missense variant	-	NC_000008.11:g.60865889C>T	UniProt
CHD7	Q9P2D1	p.Leu2984Phe	RCV000718499	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60865889C>T	ClinVar
CHD7	Q9P2D1	p.Asp2985Gly	rs1308226776	missense variant	-	NC_000008.11:g.60865893A>G	TOPMed,gnomAD
CHD7	Q9P2D1	p.Asp2985Gly	RCV000717570	missense variant	History of neurodevelopmental disorder	NC_000008.11:g.60865893A>G	ClinVar
CHD7	Q9P2D1	p.Gly2986Val	rs374004489	missense variant	-	NC_000008.11:g.60865896G>T	ESP,TOPMed
CHD7	Q9P2D1	p.Gly2986Arg	rs1351104278	missense variant	-	NC_000008.11:g.60865895G>C	gnomAD
CHD7	Q9P2D1	p.Gly2986Ala	rs374004489	missense variant	-	NC_000008.11:g.60865896G>C	ESP,TOPMed
CHD7	Q9P2D1	p.Gly2986Glu	rs374004489	missense variant	-	NC_000008.11:g.60865896G>A	ESP,TOPMed
CHD7	Q9P2D1	p.Gly2986Trp	rs1351104278	missense variant	-	NC_000008.11:g.60865895G>T	gnomAD
CHD7	Q9P2D1	p.Gly2987Arg	rs758498085	missense variant	-	NC_000008.11:g.60865898G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Gly2987Glu	rs780071510	missense variant	-	NC_000008.11:g.60865899G>A	ExAC,gnomAD
CHD7	Q9P2D1	p.Asp2988MetPheSerTerUnk	COSM1457755	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.60865895G>-	NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Asp2988Glu	rs1175995804	missense variant	-	NC_000008.11:g.60865903T>A	TOPMed
CHD7	Q9P2D1	p.Asp2988Ter	RCV000258093	frameshift	CHARGE association (CHARGE)	NC_000008.11:g.60865901dup	ClinVar
CHD7	Q9P2D1	p.Asp2988GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.60865894_60865895insGG	NCI-TCGA
CHD7	Q9P2D1	p.Asp2988GlyPheSerTerUnk	rs771806027	frameshift	-	NC_000008.11:g.60865894_60865895insG	NCI-TCGA,NCI-TCGA Cosmic
CHD7	Q9P2D1	p.Glu2989Asp	rs1370861302	missense variant	-	NC_000008.11:g.60865906A>T	gnomAD
CHD7	Q9P2D1	p.Glu2989Lys	rs1455036121	missense variant	-	NC_000008.11:g.60865904G>A	TOPMed
CHD7	Q9P2D1	p.Ile2990Thr	rs900764655	missense variant	-	NC_000008.11:g.60865908T>C	gnomAD
CHD7	Q9P2D1	p.Ile2990Lys	rs900764655	missense variant	-	NC_000008.11:g.60865908T>A	gnomAD
CHD7	Q9P2D1	p.Glu2991Gly	rs1245508487	missense variant	-	NC_000008.11:g.60865911A>G	gnomAD
CHD7	Q9P2D1	p.Glu2991Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865910G>A	NCI-TCGA
CHD7	Q9P2D1	p.Asn2993Asp	rs1194698970	missense variant	-	NC_000008.11:g.60865916A>G	gnomAD
CHD7	Q9P2D1	p.Glu2994Asp	rs747274787	missense variant	-	NC_000008.11:g.60865921A>T	ExAC,gnomAD
CHD7	Q9P2D1	p.Glu2994Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.60865919G>A	NCI-TCGA
STX18	Q9P2W9	p.Ala2Val	rs745926984	missense variant	-	NC_000004.12:g.4541960G>A	ExAC,gnomAD
STX18	Q9P2W9	p.Val3Gly	rs757111546	missense variant	-	NC_000004.12:g.4541957A>C	ExAC,gnomAD
STX18	Q9P2W9	p.Val3Met	COSM4124865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4541958C>T	NCI-TCGA Cosmic
STX18	Q9P2W9	p.Val3Leu	rs1348088592	missense variant	-	NC_000004.12:g.4541958C>A	gnomAD
STX18	Q9P2W9	p.Ile5Val	rs751474159	missense variant	-	NC_000004.12:g.4541952T>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Thr6Met	rs777568469	missense variant	-	NC_000004.12:g.4541948G>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Thr6Arg	rs777568469	missense variant	-	NC_000004.12:g.4541948G>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Phe9Cys	rs1177439416	missense variant	-	NC_000004.12:g.4541939A>C	gnomAD
STX18	Q9P2W9	p.Arg10Trp	rs764862944	missense variant	-	NC_000004.12:g.4541937G>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg10Gly	rs764862944	missense variant	-	NC_000004.12:g.4541937G>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg10Pro	rs1409890000	missense variant	-	NC_000004.12:g.4541936C>G	gnomAD
STX18	Q9P2W9	p.Arg10Gln	rs1409890000	missense variant	-	NC_000004.12:g.4541936C>T	gnomAD
STX18	Q9P2W9	p.Ala11Thr	rs1181302435	missense variant	-	NC_000004.12:g.4541934C>T	TOPMed,gnomAD
STX18	Q9P2W9	p.Ala11Gly	rs1419655236	missense variant	-	NC_000004.12:g.4541933G>C	gnomAD
STX18	Q9P2W9	p.Lys14Glu	rs759143592	missense variant	-	NC_000004.12:g.4541925T>C	ExAC,gnomAD
STX18	Q9P2W9	p.Thr15Ala	rs1183430588	missense variant	-	NC_000004.12:g.4541922T>C	TOPMed,gnomAD
STX18	Q9P2W9	p.Lys17Glu	rs768105340	missense variant	-	NC_000004.12:g.4541916T>C	ExAC,gnomAD
STX18	Q9P2W9	p.Thr18Lys	rs762253349	missense variant	-	NC_000004.12:g.4541912G>T	ExAC,gnomAD
STX18	Q9P2W9	p.Arg19Trp	rs1266990773	missense variant	-	NC_000004.12:g.4541910G>A	gnomAD
STX18	Q9P2W9	p.Asn20Tyr	rs774870489	missense variant	-	NC_000004.12:g.4541907T>A	ExAC,gnomAD
STX18	Q9P2W9	p.Asn20Lys	rs1394594114	missense variant	-	NC_000004.12:g.4541905G>C	gnomAD
STX18	Q9P2W9	p.Asn20Ser	rs372015735	missense variant	-	NC_000004.12:g.4541906T>C	ESP,TOPMed,gnomAD
STX18	Q9P2W9	p.Ala22Thr	rs1337590371	missense variant	-	NC_000004.12:g.4541901C>T	TOPMed,gnomAD
STX18	Q9P2W9	p.Ala22Val	rs1454802789	missense variant	-	NC_000004.12:g.4541900G>A	gnomAD
STX18	Q9P2W9	p.Gly24Arg	rs769150506	missense variant	-	NC_000004.12:g.4541895C>T	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gly24Ala	rs763408063	missense variant	-	NC_000004.12:g.4541894C>G	ExAC,gnomAD
STX18	Q9P2W9	p.Val25Leu	rs1365526089	missense variant	-	NC_000004.12:g.4541892C>A	gnomAD
STX18	Q9P2W9	p.Val27Gly	rs1422981401	missense variant	-	NC_000004.12:g.4541885A>C	gnomAD
STX18	Q9P2W9	p.Gly29Ser	rs770122068	missense variant	-	NC_000004.12:g.4541880C>T	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gly30Glu	rs1336425403	missense variant	-	NC_000004.12:g.4541876C>T	gnomAD
STX18	Q9P2W9	p.Asp32Asn	rs13134070	missense variant	-	NC_000004.12:g.4541871C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Asp32Tyr	rs13134070	missense variant	-	NC_000004.12:g.4541871C>A	ExAC,gnomAD
STX18	Q9P2W9	p.Arg35Gln	rs781161674	missense variant	-	NC_000004.12:g.4541861C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Arg35Leu	rs781161674	missense variant	-	NC_000004.12:g.4541861C>A	ExAC,gnomAD
STX18	Q9P2W9	p.Asp36Val	rs773303357	missense variant	-	NC_000004.12:g.4541858T>A	ExAC,gnomAD
STX18	Q9P2W9	p.Glu37Asp	rs969311735	missense variant	-	NC_000004.12:g.4541854C>G	TOPMed
STX18	Q9P2W9	p.Glu37Ter	NCI-TCGA novel	stop gained	-	NC_000004.12:g.4541856C>A	NCI-TCGA
STX18	Q9P2W9	p.Leu38Met	rs746934465	missense variant	-	NC_000004.12:g.4541853G>T	ExAC,gnomAD
STX18	Q9P2W9	p.Leu38Gln	rs1359112180	missense variant	-	NC_000004.12:g.4541852A>T	gnomAD
STX18	Q9P2W9	p.Arg40His	rs758254446	missense variant	-	NC_000004.12:g.4541846C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Arg41Pro	rs1317715483	missense variant	-	NC_000004.12:g.4541843C>G	gnomAD
STX18	Q9P2W9	p.Pro43Ser	rs778585074	missense variant	-	NC_000004.12:g.4541838G>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Pro45Thr	rs753485407	missense variant	-	NC_000004.12:g.4541832G>T	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Pro45Ser	rs753485407	missense variant	-	NC_000004.12:g.4541832G>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Pro45Arg	rs765826529	missense variant	-	NC_000004.12:g.4541831G>C	ExAC,gnomAD
STX18	Q9P2W9	p.Gly47Ser	rs569573620	missense variant	-	NC_000004.12:g.4541826C>T	TOPMed
STX18	Q9P2W9	p.Asp48Glu	rs1325249525	missense variant	-	NC_000004.12:g.4541821G>C	gnomAD
STX18	Q9P2W9	p.Phe49Leu	rs1389108625	missense variant	-	NC_000004.12:g.4541818G>T	gnomAD
STX18	Q9P2W9	p.Ser51Asn	rs1392346962	missense variant	-	NC_000004.12:g.4541813C>T	TOPMed
STX18	Q9P2W9	p.Ser51Arg	rs763465020	missense variant	-	NC_000004.12:g.4541812G>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ser51Gly	rs36109375	missense variant	-	NC_000004.12:g.4541814T>C	UniProt,dbSNP
STX18	Q9P2W9	p.Ser51Gly	VAR_052251	missense variant	-	NC_000004.12:g.4541814T>C	UniProt
STX18	Q9P2W9	p.Ser51Gly	rs36109375	missense variant	-	NC_000004.12:g.4541814T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg52Trp	rs775969920	missense variant	-	NC_000004.12:g.4541811G>A	ExAC,gnomAD
STX18	Q9P2W9	p.Arg52Pro	rs770244683	missense variant	-	NC_000004.12:g.4541810C>G	ExAC,gnomAD
STX18	Q9P2W9	p.Ala53Asp	rs1026173058	missense variant	-	NC_000004.12:g.4541807G>T	TOPMed,gnomAD
STX18	Q9P2W9	p.Ala53Ser	rs368216199	missense variant	-	NC_000004.12:g.4541808C>A	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg54His	rs200061902	missense variant	-	NC_000004.12:g.4541804C>T	1000Genomes,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg54Ser	rs776857072	missense variant	-	NC_000004.12:g.4541805G>T	ExAC,gnomAD
STX18	Q9P2W9	p.Arg54Gly	rs776857072	missense variant	-	NC_000004.12:g.4541805G>C	ExAC,gnomAD
STX18	Q9P2W9	p.Arg54Leu	rs200061902	missense variant	-	NC_000004.12:g.4541804C>A	1000Genomes,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ile57Val	rs199983128	missense variant	-	NC_000004.12:g.4471706T>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ser58Ala	rs780871893	missense variant	-	NC_000004.12:g.4471703A>C	ExAC,gnomAD
STX18	Q9P2W9	p.His59Asp	rs756769803	missense variant	-	NC_000004.12:g.4471700G>C	ExAC,gnomAD
STX18	Q9P2W9	p.Lys62Glu	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4471691T>C	NCI-TCGA
STX18	Q9P2W9	p.Arg64Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4471684C>T	NCI-TCGA
STX18	Q9P2W9	p.Asp65Gly	rs753261753	missense variant	-	NC_000004.12:g.4471681T>C	ExAC,gnomAD
STX18	Q9P2W9	p.Leu67Ile	rs551481935	missense variant	-	NC_000004.12:g.4471676G>T	1000Genomes,ExAC,gnomAD
STX18	Q9P2W9	p.Leu67His	rs1376708492	missense variant	-	NC_000004.12:g.4471675A>T	TOPMed
STX18	Q9P2W9	p.Leu68Met	rs1397800753	missense variant	-	NC_000004.12:g.4471673G>T	TOPMed
STX18	Q9P2W9	p.Glu69Gln	rs755353326	missense variant	-	NC_000004.12:g.4471670C>G	ExAC,gnomAD
STX18	Q9P2W9	p.Glu69Ter	rs755353326	stop gained	-	NC_000004.12:g.4471670C>A	ExAC,gnomAD
STX18	Q9P2W9	p.His70Tyr	rs766548701	missense variant	-	NC_000004.12:g.4471667G>A	ExAC,gnomAD
STX18	Q9P2W9	p.Arg71Lys	rs1399447971	missense variant	-	NC_000004.12:g.4471663C>T	gnomAD
STX18	Q9P2W9	p.Arg71Gly	rs1156403511	missense variant	-	NC_000004.12:g.4471664T>C	TOPMed,gnomAD
STX18	Q9P2W9	p.Lys72Glu	rs760917484	missense variant	-	NC_000004.12:g.4471661T>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Asp73Val	rs1311567815	missense variant	-	NC_000004.12:g.4471657T>A	TOPMed
STX18	Q9P2W9	p.Asp73Tyr	rs773369139	missense variant	-	NC_000004.12:g.4471658C>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ile75Val	rs1282627191	missense variant	-	NC_000004.12:g.4471652T>C	TOPMed
STX18	Q9P2W9	p.Asn76Lys	rs528592425	missense variant	-	NC_000004.12:g.4471647A>C	1000Genomes,ExAC,gnomAD
STX18	Q9P2W9	p.Ala77Val	rs192556293	missense variant	-	NC_000004.12:g.4471645G>A	1000Genomes,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Tyr78Cys	rs774220039	missense variant	-	NC_000004.12:g.4471642T>C	ExAC,gnomAD
STX18	Q9P2W9	p.Met82Leu	rs149431016	missense variant	-	NC_000004.12:g.4459480T>A	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Met82Val	rs149431016	missense variant	-	NC_000004.12:g.4459480T>C	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ser83Cys	rs367680008	missense variant	-	NC_000004.12:g.4459476G>C	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Tyr85Cys	rs780355183	missense variant	-	NC_000004.12:g.4459470T>C	ExAC,gnomAD
STX18	Q9P2W9	p.Gly86Arg	rs756534204	missense variant	-	NC_000004.12:g.4459468C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Arg87Gly	rs1224653440	missense variant	-	NC_000004.12:g.4459465T>C	gnomAD
STX18	Q9P2W9	p.Met88Lys	rs1314521998	missense variant	-	NC_000004.12:g.4459461A>T	gnomAD
STX18	Q9P2W9	p.Thr91Ile	rs750770122	missense variant	-	NC_000004.12:g.4459452G>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg93Gln	rs375534518	missense variant	-	NC_000004.12:g.4459446C>T	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg93Ter	rs781435188	stop gained	-	NC_000004.12:g.4459447G>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Asp94Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4459444C>A	NCI-TCGA
STX18	Q9P2W9	p.Gln95His	rs1362848853	missense variant	-	NC_000004.12:g.4459439C>G	gnomAD
STX18	Q9P2W9	p.Gln95Lys	rs1264051811	missense variant	-	NC_000004.12:g.4459441G>T	TOPMed
STX18	Q9P2W9	p.Asp97Glu	rs1359252605	missense variant	-	NC_000004.12:g.4459433G>C	TOPMed
STX18	Q9P2W9	p.Gln98Glu	rs1272291039	missense variant	-	NC_000004.12:g.4459432G>C	TOPMed,gnomAD
STX18	Q9P2W9	p.Asp99Gly	rs370974050	missense variant	-	NC_000004.12:g.4459428T>C	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gln101Arg	rs752747700	missense variant	-	NC_000004.12:g.4459422T>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg105Ser	rs759450544	missense variant	-	NC_000004.12:g.4459409C>A	ExAC
STX18	Q9P2W9	p.Arg105Lys	rs765253900	missense variant	-	NC_000004.12:g.4459410C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Ser108Ter	rs776535333	stop gained	-	NC_000004.12:g.4459401G>C	ExAC,gnomAD
STX18	Q9P2W9	p.Ser108Thr	rs1361936298	missense variant	-	NC_000004.12:g.4459402A>T	gnomAD
STX18	Q9P2W9	p.Ile111Val	rs1419414634	missense variant	-	NC_000004.12:g.4459393T>C	gnomAD
STX18	Q9P2W9	p.Gln112Pro	rs1175007999	missense variant	-	NC_000004.12:g.4459389T>G	TOPMed
STX18	Q9P2W9	p.Arg115Gln	rs1419617078	missense variant	-	NC_000004.12:g.4459380C>T	TOPMed
STX18	Q9P2W9	p.Arg115Ter	rs920916744	stop gained	-	NC_000004.12:g.4459381G>A	TOPMed,gnomAD
STX18	Q9P2W9	p.Thr116Ala	rs1437086225	missense variant	-	NC_000004.12:g.4459378T>C	TOPMed,gnomAD
STX18	Q9P2W9	p.Thr116Ser	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4459378T>A	NCI-TCGA
STX18	Q9P2W9	p.His119Pro	rs200389671	missense variant	-	NC_000004.12:g.4457497T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.His119Arg	rs200389671	missense variant	-	NC_000004.12:g.4457497T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.His119Leu	rs200389671	missense variant	-	NC_000004.12:g.4457497T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.His119Gln	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4457496G>C	NCI-TCGA
STX18	Q9P2W9	p.Lys120Asn	rs773885817	missense variant	-	NC_000004.12:g.4457493C>G	ExAC,gnomAD
STX18	Q9P2W9	p.Lys120Glu	rs761432951	missense variant	-	NC_000004.12:g.4457495T>C	ExAC,gnomAD
STX18	Q9P2W9	p.Lys120Asn	rs773885817	missense variant	-	NC_000004.12:g.4457493C>A	ExAC,gnomAD
STX18	Q9P2W9	p.Glu121Ter	rs768109962	stop gained	-	NC_000004.12:g.4457492C>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Glu121Gln	rs768109962	missense variant	-	NC_000004.12:g.4457492C>G	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ile122Val	rs777055880	missense variant	-	NC_000004.12:g.4457489T>C	ExAC,gnomAD
STX18	Q9P2W9	p.His123Asn	rs1301235338	missense variant	-	NC_000004.12:g.4457486G>T	gnomAD
STX18	Q9P2W9	p.His123Tyr	rs1301235338	missense variant	-	NC_000004.12:g.4457486G>A	gnomAD
STX18	Q9P2W9	p.His123Arg	rs941705297	missense variant	-	NC_000004.12:g.4457485T>C	TOPMed
STX18	Q9P2W9	p.Ser124Cys	rs747322825	missense variant	-	NC_000004.12:g.4457482G>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ser124Tyr	rs747322825	missense variant	-	NC_000004.12:g.4457482G>T	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Glu129Lys	rs758515694	missense variant	-	NC_000004.12:g.4457468C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Glu129Gln	rs758515694	missense variant	-	NC_000004.12:g.4457468C>G	ExAC,gnomAD
STX18	Q9P2W9	p.Thr132Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4457458G>A	NCI-TCGA
STX18	Q9P2W9	p.Ala133Thr	rs755050963	missense variant	-	NC_000004.12:g.4457456C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Val134Ile	rs370164301	missense variant	-	NC_000004.12:g.4457453C>T	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Val134Leu	rs370164301	missense variant	-	NC_000004.12:g.4457453C>G	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Asp136Asn	rs139040070	missense variant	-	NC_000004.12:g.4457447C>T	ESP
STX18	Q9P2W9	p.Phe137Val	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4457444A>C	NCI-TCGA
STX18	Q9P2W9	p.Phe137Ile	rs375609558	missense variant	-	NC_000004.12:g.4457444A>T	ESP,gnomAD
STX18	Q9P2W9	p.Ile138Val	rs200846315	missense variant	-	NC_000004.12:g.4457441T>C	1000Genomes
STX18	Q9P2W9	p.Ile138Thr	rs755992642	missense variant	-	NC_000004.12:g.4457440A>G	ExAC,gnomAD
STX18	Q9P2W9	p.Asp140Ala	rs1293004739	missense variant	-	NC_000004.12:g.4457434T>G	gnomAD
STX18	Q9P2W9	p.Asp140Gly	rs1293004739	missense variant	-	NC_000004.12:g.4457434T>C	gnomAD
STX18	Q9P2W9	p.Asp140Val	COSM3775858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4457434T>A	NCI-TCGA Cosmic
STX18	Q9P2W9	p.Tyr141Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4457431T>C	NCI-TCGA
STX18	Q9P2W9	p.Tyr141Asn	rs750159538	missense variant	-	NC_000004.12:g.4457432A>T	ExAC,gnomAD
STX18	Q9P2W9	p.Cys146Ser	COSM6100455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4457251C>G	NCI-TCGA Cosmic
STX18	Q9P2W9	p.Cys146Ter	rs756980900	stop gained	-	NC_000004.12:g.4457250A>T	ExAC,gnomAD
STX18	Q9P2W9	p.Leu148Phe	rs763726059	missense variant	-	NC_000004.12:g.4457246G>A	ExAC,gnomAD
STX18	Q9P2W9	p.Leu148Val	rs763726059	missense variant	-	NC_000004.12:g.4457246G>C	ExAC,gnomAD
STX18	Q9P2W9	p.Tyr149LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.4457243_4457244AA>-	NCI-TCGA
STX18	Q9P2W9	p.Ser150Pro	rs1439677613	missense variant	-	NC_000004.12:g.4457240A>G	gnomAD
STX18	Q9P2W9	p.Gln152Glu	rs1396534917	missense variant	-	NC_000004.12:g.4457234G>C	TOPMed
STX18	Q9P2W9	p.Gln152His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4457232C>G	NCI-TCGA
STX18	Q9P2W9	p.Ala154Thr	COSM1429835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4457228C>T	NCI-TCGA Cosmic
STX18	Q9P2W9	p.Ile155Met	rs1329067636	missense variant	-	NC_000004.12:g.4457223G>C	gnomAD
STX18	Q9P2W9	p.Arg156Gln	rs1448582109	missense variant	-	NC_000004.12:g.4457221C>T	TOPMed,gnomAD
STX18	Q9P2W9	p.Arg156Gly	rs1166748901	missense variant	-	NC_000004.12:g.4457222G>C	gnomAD
STX18	Q9P2W9	p.Val157Ile	rs752175452	missense variant	-	NC_000004.12:g.4457219C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Val157Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4457218A>C	NCI-TCGA
STX18	Q9P2W9	p.Val157Leu	rs752175452	missense variant	-	NC_000004.12:g.4457219C>G	ExAC,gnomAD
STX18	Q9P2W9	p.Lys158Asn	rs764762469	missense variant	-	NC_000004.12:g.4457214T>G	ExAC,gnomAD
STX18	Q9P2W9	p.Arg165Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4457195T>C	NCI-TCGA
STX18	Q9P2W9	p.Leu166Ter	rs773707590	stop gained	-	NC_000004.12:g.4457191A>C	ExAC,gnomAD
STX18	Q9P2W9	p.Leu169Pro	rs1432767852	missense variant	-	NC_000004.12:g.4438501A>G	TOPMed
STX18	Q9P2W9	p.Glu170Lys	rs1199886942	missense variant	-	NC_000004.12:g.4438499C>T	TOPMed
STX18	Q9P2W9	p.Pro171Arg	rs553471854	missense variant	-	NC_000004.12:g.4438495G>C	1000Genomes,ExAC,gnomAD
STX18	Q9P2W9	p.Thr175Ala	rs373236269	missense variant	-	NC_000004.12:g.4438484T>C	ESP,ExAC,gnomAD
STX18	Q9P2W9	p.Thr177Ile	rs981857214	missense variant	-	NC_000004.12:g.4438477G>A	gnomAD
STX18	Q9P2W9	p.Thr177Ser	rs1334367742	missense variant	-	NC_000004.12:g.4438478T>A	TOPMed,gnomAD
STX18	Q9P2W9	p.Thr177Arg	rs981857214	missense variant	-	NC_000004.12:g.4438477G>C	gnomAD
STX18	Q9P2W9	p.Arg178Gly	rs1446413480	missense variant	-	NC_000004.12:g.4438475T>C	gnomAD
STX18	Q9P2W9	p.Glu179Ala	rs1247439389	missense variant	-	NC_000004.12:g.4438471T>G	gnomAD
STX18	Q9P2W9	p.Ser180Cys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4438468G>C	NCI-TCGA
STX18	Q9P2W9	p.Ser180Tyr	rs1455807265	missense variant	-	NC_000004.12:g.4438468G>T	TOPMed
STX18	Q9P2W9	p.Thr181Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4438465G>A	NCI-TCGA
STX18	Q9P2W9	p.Ser183Cys	rs769831978	missense variant	-	NC_000004.12:g.4438459G>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Glu184Ala	rs61740788	missense variant	-	NC_000004.12:g.4438456T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Glu184Val	rs61740788	missense variant	-	NC_000004.12:g.4438456T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gln188Arg	rs746911463	missense variant	-	NC_000004.12:g.4438444T>C	ExAC,gnomAD
STX18	Q9P2W9	p.Ser189Asn	rs1267960330	missense variant	-	NC_000004.12:g.4438441C>T	gnomAD
STX18	Q9P2W9	p.Lys192Thr	rs1299357238	missense variant	-	NC_000004.12:g.4438432T>G	TOPMed,gnomAD
STX18	Q9P2W9	p.Lys192Arg	rs1299357238	missense variant	-	NC_000004.12:g.4438432T>C	TOPMed,gnomAD
STX18	Q9P2W9	p.Lys192Glu	rs1374921211	missense variant	-	NC_000004.12:g.4438433T>C	gnomAD
STX18	Q9P2W9	p.Ser194Pro	rs747757363	missense variant	-	NC_000004.12:g.4438427A>G	ExAC,gnomAD
STX18	Q9P2W9	p.Glu196Lys	rs778619017	missense variant	-	NC_000004.12:g.4438421C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Glu196Gly	rs376948946	missense variant	-	NC_000004.12:g.4438420T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Asn197Thr	rs753364981	missense variant	-	NC_000004.12:g.4438417T>G	ExAC,gnomAD
STX18	Q9P2W9	p.Pro198Ser	rs1241123898	missense variant	-	NC_000004.12:g.4438415G>A	TOPMed
STX18	Q9P2W9	p.Glu201Lys	rs757868590	missense variant	-	NC_000004.12:g.4438406C>T	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg203Cys	rs199791946	missense variant	-	NC_000004.12:g.4438400G>A	1000Genomes,ExAC,gnomAD
STX18	Q9P2W9	p.Arg203His	rs141565171	missense variant	-	NC_000004.12:g.4438399C>T	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Glu205Ter	rs1489786258	stop gained	-	NC_000004.12:g.4438394C>A	gnomAD
STX18	Q9P2W9	p.Lys206Ile	rs764685617	missense variant	-	NC_000004.12:g.4434855T>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ile207AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000004.12:g.4434852_4434853insT	NCI-TCGA
STX18	Q9P2W9	p.Ala209Ser	rs138608980	missense variant	-	NC_000004.12:g.4434847C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ala209Pro	rs138608980	missense variant	-	NC_000004.12:g.4434847C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Glu210Lys	COSM3993689	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4434844C>T	NCI-TCGA Cosmic
STX18	Q9P2W9	p.Thr211Ala	rs753078774	missense variant	-	NC_000004.12:g.4434841T>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gln212Leu	rs1212054806	missense variant	-	NC_000004.12:g.4434837T>A	gnomAD
STX18	Q9P2W9	p.Thr217Met	rs765480846	missense variant	-	NC_000004.12:g.4434822G>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Thr217Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4434822G>C	NCI-TCGA
STX18	Q9P2W9	p.Trp218Cys	rs200454992	missense variant	-	NC_000004.12:g.4434818C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gly219Arg	rs766447591	missense variant	-	NC_000004.12:g.4434817C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Lys222Arg	rs1333528074	missense variant	-	NC_000004.12:g.4434807T>C	gnomAD
STX18	Q9P2W9	p.Gly223Val	rs772024245	missense variant	-	NC_000004.12:g.4434804C>A	ExAC,gnomAD
STX18	Q9P2W9	p.Glu224Lys	rs141662322	missense variant	-	NC_000004.12:g.4434802C>T	ESP,TOPMed
STX18	Q9P2W9	p.Glu224Ala	rs774231425	missense variant	-	NC_000004.12:g.4434801T>G	ExAC,gnomAD
STX18	Q9P2W9	p.Glu224Asp	rs922649368	missense variant	-	NC_000004.12:g.4434800T>A	TOPMed,gnomAD
STX18	Q9P2W9	p.Glu226Lys	rs768285505	missense variant	-	NC_000004.12:g.4434796C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Leu227Phe	rs148035025	missense variant	-	NC_000004.12:g.4434791T>A	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ser228Thr	rs33952588	missense variant	-	NC_000004.12:g.4434790A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ser228Thr	rs33952588	missense variant	-	NC_000004.12:g.4434790A>T	UniProt,dbSNP
STX18	Q9P2W9	p.Ser228Thr	VAR_052252	missense variant	-	NC_000004.12:g.4434790A>T	UniProt
STX18	Q9P2W9	p.Pro229Ala	rs528505752	missense variant	-	NC_000004.12:g.4434787G>C	ExAC,gnomAD
STX18	Q9P2W9	p.Met234Thr	rs745350307	missense variant	-	NC_000004.12:g.4434771A>G	ExAC,gnomAD
STX18	Q9P2W9	p.Glu236Gly	rs1444031816	missense variant	-	NC_000004.12:g.4425218T>C	TOPMed
STX18	Q9P2W9	p.Glu236Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4425219C>T	NCI-TCGA
STX18	Q9P2W9	p.Gln237Leu	rs769541021	missense variant	-	NC_000004.12:g.4425215T>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gln240Pro	rs745481180	missense variant	-	NC_000004.12:g.4425206T>G	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg241Gln	rs780875914	missense variant	-	NC_000004.12:g.4425203C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Arg241Ter	rs1455288462	stop gained	-	NC_000004.12:g.4425204G>A	TOPMed,gnomAD
STX18	Q9P2W9	p.Leu242Arg	rs374045650	missense variant	-	NC_000004.12:g.4425200A>C	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Ile243Met	rs141324067	missense variant	-	NC_000004.12:g.4425196A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gly244Cys	rs900513772	missense variant	-	NC_000004.12:g.4425195C>A	gnomAD
STX18	Q9P2W9	p.Gly244Val	rs937271471	missense variant	-	NC_000004.12:g.4425194C>A	TOPMed
STX18	Q9P2W9	p.Glu245Ter	COSM1055613	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.4425192C>A	NCI-TCGA Cosmic
STX18	Q9P2W9	p.Ser248Gly	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4425183T>C	NCI-TCGA
STX18	Q9P2W9	p.Leu249Ser	rs1368538523	missense variant	-	NC_000004.12:g.4425179A>G	gnomAD
STX18	Q9P2W9	p.Phe250Ile	rs920539386	missense variant	-	NC_000004.12:g.4425177A>T	TOPMed
STX18	Q9P2W9	p.Asp251His	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4425174C>G	NCI-TCGA
STX18	Q9P2W9	p.Val253Met	rs1188947148	missense variant	-	NC_000004.12:g.4425168C>T	gnomAD
STX18	Q9P2W9	p.Glu257Lys	rs147859730	missense variant	-	NC_000004.12:g.4423580C>T	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Val261Ile	rs1451405247	missense variant	-	NC_000004.12:g.4423568C>T	gnomAD
STX18	Q9P2W9	p.Glu262Asp	rs112848855	missense variant	-	NC_000004.12:g.4423563C>A	gnomAD
STX18	Q9P2W9	p.Glu262Asp	rs112848855	missense variant	-	NC_000004.12:g.4423563C>G	gnomAD
STX18	Q9P2W9	p.Ser264Ala	rs1257197734	missense variant	-	NC_000004.12:g.4423559A>C	TOPMed,gnomAD
STX18	Q9P2W9	p.Ser264Cys	rs769116486	missense variant	-	NC_000004.12:g.4423558G>C	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg265Lys	rs530325544	missense variant	-	NC_000004.12:g.4423555C>T	1000Genomes,ExAC,gnomAD
STX18	Q9P2W9	p.Leu266Phe	rs780419500	missense variant	-	NC_000004.12:g.4423553G>A	ExAC,gnomAD
STX18	Q9P2W9	p.Gln267Ter	rs756411297	stop gained	-	NC_000004.12:g.4423550G>A	ExAC,gnomAD
STX18	Q9P2W9	p.Ile269Arg	rs1319826987	missense variant	-	NC_000004.12:g.4423543A>C	gnomAD
STX18	Q9P2W9	p.Ile269Leu	rs746093405	missense variant	-	NC_000004.12:g.4423544T>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Phe270Leu	rs1281316602	missense variant	-	NC_000004.12:g.4423541A>G	gnomAD
STX18	Q9P2W9	p.Thr271Met	rs781259237	missense variant	-	NC_000004.12:g.4423537G>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Glu272Lys	rs1325080855	missense variant	-	NC_000004.12:g.4423535C>T	gnomAD
STX18	Q9P2W9	p.Val274Ile	rs1377349612	missense variant	-	NC_000004.12:g.4423529C>T	TOPMed
STX18	Q9P2W9	p.Leu275Phe	rs764195264	missense variant	-	NC_000004.12:g.4423524C>G	ExAC,gnomAD
STX18	Q9P2W9	p.Gln276Lys	rs369099999	missense variant	-	NC_000004.12:g.4423523G>T	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gln277Arg	rs752628022	missense variant	-	NC_000004.12:g.4423519T>C	ExAC,TOPMed
STX18	Q9P2W9	p.Gln277Leu	rs752628022	missense variant	-	NC_000004.12:g.4423519T>A	ExAC,TOPMed
STX18	Q9P2W9	p.Glu278Gly	rs1412240004	missense variant	-	NC_000004.12:g.4420943T>C	TOPMed
STX18	Q9P2W9	p.Ser283Asn	rs770257333	missense variant	-	NC_000004.12:g.4420928C>T	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.His285Arg	rs1339585569	missense variant	-	NC_000004.12:g.4420922T>C	TOPMed
STX18	Q9P2W9	p.Gln286His	rs145159636	missense variant	-	NC_000004.12:g.4420918C>G	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Gln286Arg	rs771272494	missense variant	-	NC_000004.12:g.4420919T>C	ExAC,gnomAD
STX18	Q9P2W9	p.Val288Ile	rs1343201544	missense variant	-	NC_000004.12:g.4420914C>T	TOPMed
STX18	Q9P2W9	p.Gly290Arg	rs1448131135	missense variant	-	NC_000004.12:g.4420908C>T	gnomAD
STX18	Q9P2W9	p.Glu293Gly	rs748214329	missense variant	-	NC_000004.12:g.4420898T>C	ExAC,gnomAD
STX18	Q9P2W9	p.Glu293Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4420899C>T	NCI-TCGA
STX18	Q9P2W9	p.Ile295Thr	rs1418214374	missense variant	-	NC_000004.12:g.4420892A>G	gnomAD
STX18	Q9P2W9	p.Lys296Asn	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4420888C>A	NCI-TCGA
STX18	Q9P2W9	p.Glu297Ala	rs1187896229	missense variant	-	NC_000004.12:g.4420886T>G	gnomAD
STX18	Q9P2W9	p.Gly298Ser	rs1360336694	missense variant	-	NC_000004.12:g.4420884C>T	gnomAD
STX18	Q9P2W9	p.Asn299Tyr	rs754900100	missense variant	-	NC_000004.12:g.4420881T>A	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Asn299His	rs754900100	missense variant	-	NC_000004.12:g.4420881T>G	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Glu300Lys	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4420878C>T	NCI-TCGA
STX18	Q9P2W9	p.Glu300Val	COSM1055612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4420877T>A	NCI-TCGA Cosmic
STX18	Q9P2W9	p.Ile302Leu	rs779725592	missense variant	-	NC_000004.12:g.4420872T>G	ExAC,gnomAD
STX18	Q9P2W9	p.Ile302Thr	rs1036510662	missense variant	-	NC_000004.12:g.4420871A>G	TOPMed
STX18	Q9P2W9	p.Glu304Lys	rs1239080829	missense variant	-	NC_000004.12:g.4420866C>T	gnomAD
STX18	Q9P2W9	p.Asn308Tyr	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4420120T>A	NCI-TCGA
STX18	Q9P2W9	p.Ala310Thr	rs375381942	missense variant	-	NC_000004.12:g.4420114C>T	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Arg313His	rs570534465	missense variant	-	NC_000004.12:g.4420104C>T	1000Genomes,ExAC,gnomAD
STX18	Q9P2W9	p.Arg313Cys	rs754364875	missense variant	-	NC_000004.12:g.4420105G>A	ExAC,gnomAD
STX18	Q9P2W9	p.Val314Met	rs760981833	missense variant	-	NC_000004.12:g.4420102C>T	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Val314Leu	rs760981833	missense variant	-	NC_000004.12:g.4420102C>G	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Leu317Phe	rs1424268354	missense variant	-	NC_000004.12:g.4420093G>A	gnomAD
STX18	Q9P2W9	p.Leu317Arg	rs773741342	missense variant	-	NC_000004.12:g.4420092A>C	ExAC,gnomAD
STX18	Q9P2W9	p.Phe318Ser	rs997730123	missense variant	-	NC_000004.12:g.4420089A>G	TOPMed
STX18	Q9P2W9	p.Leu320Ile	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4420084G>T	NCI-TCGA
STX18	Q9P2W9	p.Val321Met	rs762138993	missense variant	-	NC_000004.12:g.4420081C>T	ExAC,gnomAD
STX18	Q9P2W9	p.Phe325Leu	rs547494020	missense variant	-	NC_000004.12:g.4420067G>C	1000Genomes,ExAC,gnomAD
STX18	Q9P2W9	p.Leu328Pro	rs1301080357	missense variant	-	NC_000004.12:g.4420059A>G	gnomAD
STX18	Q9P2W9	p.Asp331Asn	rs372039780	missense variant	-	NC_000004.12:g.4420051C>T	ESP,ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Trp332Arg	NCI-TCGA novel	missense variant	-	NC_000004.12:g.4420048A>G	NCI-TCGA
STX18	Q9P2W9	p.Asp334Ala	rs769802487	missense variant	-	NC_000004.12:g.4420041T>G	ExAC,TOPMed,gnomAD
STX18	Q9P2W9	p.Asp334Asn	rs1447993378	missense variant	-	NC_000004.12:g.4420042C>T	TOPMed
DNMT3B	Q9UBC3	p.Lys2Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32780328A>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Asp4Asn	rs778827030	missense variant	-	NC_000020.11:g.32780333G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asp4His	rs778827030	missense variant	-	NC_000020.11:g.32780333G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Thr5Ala	rs1180045669	missense variant	-	NC_000020.11:g.32780336A>G	gnomAD
DNMT3B	Q9UBC3	p.Thr5Ser	rs201455430	missense variant	-	NC_000020.11:g.32780337C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr5Ile	rs201455430	missense variant	-	NC_000020.11:g.32780337C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg6Lys	rs758218721	missense variant	-	NC_000020.11:g.32780340G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg6Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32780341G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Asn9Thr	rs1164679688	missense variant	-	NC_000020.11:g.32780349A>C	gnomAD
DNMT3B	Q9UBC3	p.Asn9Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32780349A>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Asp13Asn	rs368407604	missense variant	-	NC_000020.11:g.32780360G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp13Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32780361A>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Ala14Pro	rs770859652	missense variant	-	NC_000020.11:g.32780363G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala14Thr	rs770859652	missense variant	-	NC_000020.11:g.32780363G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala14Thr	rs770859652	missense variant	-	NC_000020.11:g.32780363G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly15Ser	rs375171362	missense variant	-	NC_000020.11:g.32780366G>A	gnomAD
DNMT3B	Q9UBC3	p.Gly16Arg	rs758536558	missense variant	-	NC_000020.11:g.32780369G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg17Gly	rs937385003	missense variant	-	NC_000020.11:g.32780372A>G	TOPMed
DNMT3B	Q9UBC3	p.Ser20Trp	rs141756182	missense variant	-	NC_000020.11:g.32780382C>G	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser20Leu	rs141756182	missense variant	-	NC_000020.11:g.32780382C>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ile21Thr	rs1266285999	missense variant	-	NC_000020.11:g.32780385T>C	gnomAD
DNMT3B	Q9UBC3	p.Leu22Phe	rs754241012	missense variant	-	NC_000020.11:g.32780387C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Leu22Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32780388T>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Val23Ile	rs367766007	missense variant	-	NC_000020.11:g.32780390G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asn24Tyr	rs752677666	missense variant	-	NC_000020.11:g.32780393A>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asn24Ser	rs758506171	missense variant	-	NC_000020.11:g.32780394A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly25Arg	RCV000636686	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32780396G>A	ClinVar
DNMT3B	Q9UBC3	p.Gly25Arg	RCV000762341	missense variant	-	NC_000020.11:g.32780396G>A	ClinVar
DNMT3B	Q9UBC3	p.Gly25Arg	rs151128145	missense variant	-	NC_000020.11:g.32780396G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala26Pro	rs781115406	missense variant	-	NC_000020.11:g.32780399G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Cys27Arg	rs1481082489	missense variant	-	NC_000020.11:g.32780402T>C	TOPMed
DNMT3B	Q9UBC3	p.Ser28Gly	rs769293365	missense variant	-	NC_000020.11:g.32780405A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser28Arg	rs1371940235	missense variant	-	NC_000020.11:g.32780407C>G	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp29Asn	rs775216151	missense variant	-	NC_000020.11:g.32780408G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gln30Ter	rs121908945	stop gained	-	NC_000020.11:g.32780411C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gln30Arg	rs1424969940	missense variant	-	NC_000020.11:g.32780412A>G	gnomAD
DNMT3B	Q9UBC3	p.Gln30Lys	rs121908945	missense variant	-	NC_000020.11:g.32780411C>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gln30Pro	rs1424969940	missense variant	-	NC_000020.11:g.32780412A>C	gnomAD
DNMT3B	Q9UBC3	p.Gln30Ter	RCV000007135	nonsense	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32780411C>T	ClinVar
DNMT3B	Q9UBC3	p.Ser32Tyr	rs1376823517	missense variant	-	NC_000020.11:g.32780418C>A	gnomAD
DNMT3B	Q9UBC3	p.Asp33Asn	rs773918660	missense variant	-	NC_000020.11:g.32780420G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp33Asn	rs773918660	missense variant	-	NC_000020.11:g.32780420G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser34Ala	rs761138255	missense variant	-	NC_000020.11:g.32780423T>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser34Leu	rs766920119	missense variant	-	NC_000020.11:g.32780424C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser34Leu	rs766920119	missense variant	-	NC_000020.11:g.32780424C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Pro35Thr	rs1343018597	missense variant	-	NC_000020.11:g.32780426C>A	gnomAD
DNMT3B	Q9UBC3	p.Pro35Leu	rs1210229346	missense variant	-	NC_000020.11:g.32780427C>T	gnomAD
DNMT3B	Q9UBC3	p.Ile37Asn	rs759924115	missense variant	-	NC_000020.11:g.32780433T>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu39Gln	rs374913902	missense variant	-	NC_000020.11:g.32780438G>C	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu39Asp	rs752972556	missense variant	-	NC_000020.11:g.32780440G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu39Gln	RCV000349798	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32780438G>C	ClinVar
DNMT3B	Q9UBC3	p.Ile41Val	rs1261539595	missense variant	-	NC_000020.11:g.32780444A>G	gnomAD
DNMT3B	Q9UBC3	p.Ile41Asn	rs758603280	missense variant	-	NC_000020.11:g.32780445T>A	ExAC,TOPMed
DNMT3B	Q9UBC3	p.Arg42Cys	rs150200553	missense variant	-	NC_000020.11:g.32780447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg42His	rs751741367	missense variant	-	NC_000020.11:g.32780448G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr43Ile	rs757214677	missense variant	-	NC_000020.11:g.32780451C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro44Leu	rs781313570	missense variant	-	NC_000020.11:g.32780454C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu45Ala	rs755951894	missense variant	-	NC_000020.11:g.32780457A>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg47Gly	rs1303346832	missense variant	-	NC_000020.11:g.32780462A>G	gnomAD
DNMT3B	Q9UBC3	p.Gly48Asp	rs762185930	missense variant	-	NC_000020.11:g.32781353G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg49Gln	rs1437320413	missense variant	-	NC_000020.11:g.32781356G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Arg49Gln	rs1437320413	missense variant	-	NC_000020.11:g.32781356G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg50Gly	rs1307425507	missense variant	-	NC_000020.11:g.32781358A>G	gnomAD
DNMT3B	Q9UBC3	p.Ser51Pro	COSM1025775	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32781361T>C	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser51Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32781361T>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser53Leu	rs544561079	missense variant	-	NC_000020.11:g.32781368C>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser53Leu	RCV000369778	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32781368C>T	ClinVar
DNMT3B	Q9UBC3	p.Arg54Gly	rs760640013	missense variant	-	NC_000020.11:g.32781370C>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg54Ter	rs760640013	stop gained	-	NC_000020.11:g.32781370C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg54Gln	rs17123590	missense variant	-	NC_000020.11:g.32781371G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg54Pro	rs17123590	missense variant	-	NC_000020.11:g.32781371G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser56Phe	rs764811687	missense variant	-	NC_000020.11:g.32781377C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser56Phe	RCV000698514	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32781377C>T	ClinVar
DNMT3B	Q9UBC3	p.Ser56Phe	RCV000522310	missense variant	-	NC_000020.11:g.32781377C>T	ClinVar
DNMT3B	Q9UBC3	p.Lys57Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32781381G>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser61Phe	rs752329190	missense variant	-	NC_000020.11:g.32781392C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser61Cys	rs752329190	missense variant	-	NC_000020.11:g.32781392C>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser62Asn	rs1261982356	missense variant	-	NC_000020.11:g.32781395G>A	TOPMed
DNMT3B	Q9UBC3	p.Leu64Val	rs551310722	missense variant	-	NC_000020.11:g.32781400C>G	1000Genomes
DNMT3B	Q9UBC3	p.Ser65Arg	rs1481782651	missense variant	-	NC_000020.11:g.32781405C>G	gnomAD
DNMT3B	Q9UBC3	p.Thr67Ala	rs1184306136	missense variant	-	NC_000020.11:g.32781409A>G	gnomAD
DNMT3B	Q9UBC3	p.Thr67Ile	rs1252419302	missense variant	-	NC_000020.11:g.32781410C>T	gnomAD
DNMT3B	Q9UBC3	p.Gln68Arg	rs949900284	missense variant	-	NC_000020.11:g.32781413A>G	TOPMed
DNMT3B	Q9UBC3	p.Thr71Ile	rs752527055	missense variant	-	NC_000020.11:g.32784765C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Thr71Ala	COSM1025779	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32784764A>G	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Asp73Asn	rs868507905	missense variant	-	NC_000020.11:g.32784770G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp75Asn	rs751017290	missense variant	-	NC_000020.11:g.32784776G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asp75Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32784776G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly76Ala	rs780815863	missense variant	-	NC_000020.11:g.32784780G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly76Arg	rs545685689	missense variant	-	NC_000020.11:g.32784779G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly76Trp	rs545685689	missense variant	-	NC_000020.11:g.32784779G>T	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu77Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32784782G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly79Glu	rs749755940	missense variant	-	NC_000020.11:g.32784789G>A	ExAC
DNMT3B	Q9UBC3	p.Asp80Tyr	rs755581749	missense variant	-	NC_000020.11:g.32784791G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly81Ala	rs748547514	missense variant	-	NC_000020.11:g.32784795G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly81Asp	rs748547514	missense variant	-	NC_000020.11:g.32784795G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly81Arg	rs779400304	missense variant	-	NC_000020.11:g.32784794G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Thr84Asn	rs138276579	missense variant	-	NC_000020.11:g.32784804C>A	ESP,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr84Ala	rs772377740	missense variant	-	NC_000020.11:g.32784803A>G	ExAC
DNMT3B	Q9UBC3	p.Pro85Leu	rs142571267	missense variant	-	NC_000020.11:g.32784807C>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Met87Thr	rs1280613687	missense variant	-	NC_000020.11:g.32784813T>C	gnomAD
DNMT3B	Q9UBC3	p.Pro88Ser	rs200085484	missense variant	-	NC_000020.11:g.32784815C>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro88Leu	COSM1411114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32784816C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Phe91Leu	rs776835342	missense variant	-	NC_000020.11:g.32784826C>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg92Gln	rs201395541	missense variant	-	NC_000020.11:g.32784828G>A	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg92Trp	rs149520896	missense variant	-	NC_000020.11:g.32784827C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr94Ile	rs1447244161	missense variant	-	NC_000020.11:g.32784834C>T	TOPMed
DNMT3B	Q9UBC3	p.Thr96Ser	rs775213720	missense variant	-	NC_000020.11:g.32784840C>G	ExAC
DNMT3B	Q9UBC3	p.Arg97His	rs200902224	missense variant	-	NC_000020.11:g.32784843G>A	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg97Pro	rs200902224	missense variant	-	NC_000020.11:g.32784843G>C	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg97Cys	rs769220144	missense variant	-	NC_000020.11:g.32784842C>T	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg97Gly	rs769220144	missense variant	-	NC_000020.11:g.32784842C>G	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg97His	RCV000636687	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32784843G>A	ClinVar
DNMT3B	Q9UBC3	p.Ser98Leu	rs1255916022	missense variant	-	NC_000020.11:g.32784846C>T	TOPMed
DNMT3B	Q9UBC3	p.Ser100Arg	rs529667183	missense variant	-	NC_000020.11:g.32784853C>G	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro101Ser	rs751163668	missense variant	-	NC_000020.11:g.32784854C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg104Gln	rs551752168	missense variant	-	NC_000020.11:g.32786506G>A	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg104Ter	COSM1411116	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32786505C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Thr105Ser	rs752000085	missense variant	-	NC_000020.11:g.32786509C>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg106Gln	rs200236170	missense variant	-	NC_000020.11:g.32786512G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg106Ter	COSM3545289	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32786511C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg106Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32786512G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Asn109Ser	rs781420920	missense variant	-	NC_000020.11:g.32786521A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Val111Ile	rs534208434	missense variant	-	NC_000020.11:g.32786526G>A	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val111Phe	rs534208434	missense variant	-	NC_000020.11:g.32786526G>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser112Cys	rs769854649	missense variant	-	NC_000020.11:g.32786530C>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg114Trp	rs749197342	missense variant	-	NC_000020.11:g.32786535C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg114Gln	RCV000270418	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32786536G>A	ClinVar
DNMT3B	Q9UBC3	p.Arg114Gln	rs546278202	missense variant	-	NC_000020.11:g.32786536G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu115Lys	COSM1483543	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32786538G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Glu115Asp	rs761700747	missense variant	-	NC_000020.11:g.32786540G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu115Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32786539A>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Arg116Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32786543G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.His117Gln	rs1292171605	missense variant	-	NC_000020.11:g.32786546C>G	TOPMed
DNMT3B	Q9UBC3	p.His117Tyr	rs559899499	missense variant	-	NC_000020.11:g.32786544C>T	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg118Gly	rs773011198	missense variant	-	NC_000020.11:g.32786547A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro119Thr	rs760460742	missense variant	-	NC_000020.11:g.32786550C>A	ExAC
DNMT3B	Q9UBC3	p.Pro119Leu	rs1228962376	missense variant	-	NC_000020.11:g.32786551C>T	TOPMed
DNMT3B	Q9UBC3	p.Ser120Tyr	rs1468133028	missense variant	-	NC_000020.11:g.32786554C>A	gnomAD
DNMT3B	Q9UBC3	p.Ser120Ala	rs776317692	missense variant	-	NC_000020.11:g.32786553T>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro121Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32786556C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Arg122Pro	rs757657111	missense variant	-	NC_000020.11:g.32786560G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg122His	rs757657111	missense variant	-	NC_000020.11:g.32786560G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg122Cys	rs768468807	missense variant	-	NC_000020.11:g.32786559C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg122Gly	COSM3991631	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32786559C>G	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser123Phe	rs767930436	missense variant	-	NC_000020.11:g.32786563C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Thr124Ile	rs750643169	missense variant	-	NC_000020.11:g.32786566C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg125Gln	rs1341617203	missense variant	-	NC_000020.11:g.32786569G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly126Ala	rs780085636	missense variant	-	NC_000020.11:g.32786572G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg127Pro	rs754832933	missense variant	-	NC_000020.11:g.32786575G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg127Gln	rs754832933	missense variant	-	NC_000020.11:g.32786575G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg127Trp	rs538400808	missense variant	-	NC_000020.11:g.32786574C>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg130Cys	rs371009965	missense variant	-	NC_000020.11:g.32786583C>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg130His	rs773207465	missense variant	-	NC_000020.11:g.32786584G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asn131Lys	rs746628499	missense variant	-	NC_000020.11:g.32786588C>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.His132Leu	rs770751820	missense variant	-	NC_000020.11:g.32786590A>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.His132Tyr	COSM3545293	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32786589C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.His132Arg	rs770751820	missense variant	-	NC_000020.11:g.32786590A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Val133Ala	rs759114947	missense variant	-	NC_000020.11:g.32786593T>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu135Lys	rs774911505	missense variant	-	NC_000020.11:g.32786598G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser136Tyr	rs762297902	missense variant	-	NC_000020.11:g.32786602C>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser136Phe	rs762297902	missense variant	-	NC_000020.11:g.32786602C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Val138Leu	rs756280552	missense variant	-	NC_000020.11:g.32786607G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Val138Met	rs756280552	missense variant	-	NC_000020.11:g.32786607G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro141Leu	rs766619776	missense variant	-	NC_000020.11:g.32786617C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro141Arg	rs766619776	missense variant	-	NC_000020.11:g.32786617C>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro141Ser	COSM3545297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32786616C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ala142Asp	rs1299852823	missense variant	-	NC_000020.11:g.32786620C>A	gnomAD
DNMT3B	Q9UBC3	p.Leu146Arg	rs1161625162	missense variant	-	NC_000020.11:g.32787234T>G	gnomAD
DNMT3B	Q9UBC3	p.Arg148Gln	rs1457500486	missense variant	-	NC_000020.11:g.32787240G>A	gnomAD
DNMT3B	Q9UBC3	p.Arg148Trp	rs745506485	missense variant	-	NC_000020.11:g.32787239C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg149Gln	rs779571584	missense variant	-	NC_000020.11:g.32787243G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg149Trp	rs200405601	missense variant	-	NC_000020.11:g.32787242C>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr151Ala	rs748828546	missense variant	-	NC_000020.11:g.32787248A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser153Thr	rs1230558112	missense variant	-	NC_000020.11:g.32787254T>A	gnomAD
DNMT3B	Q9UBC3	p.Ser153Leu	rs147421711	missense variant	-	NC_000020.11:g.32787255C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser153Leu	rs147421711	missense variant	-	NC_000020.11:g.32787255C>T	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ala154Gly	rs1375673082	missense variant	-	NC_000020.11:g.32787258C>G	TOPMed
DNMT3B	Q9UBC3	p.Thr156Lys	rs759777486	missense variant	-	NC_000020.11:g.32787264C>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr156Met	rs759777486	missense variant	-	NC_000020.11:g.32787264C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro157Ser	rs1452078706	missense variant	-	NC_000020.11:g.32787266C>T	TOPMed
DNMT3B	Q9UBC3	p.Pro159Leu	rs764064020	missense variant	-	NC_000020.11:g.32787273C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro159Leu	rs764064020	missense variant	-	NC_000020.11:g.32787273C>T	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Pro159Ser	COSM3545299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32787272C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Pro159Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32787273C>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser160Pro	rs1178689157	missense variant	-	NC_000020.11:g.32787275T>C	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro161Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32787278C>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser163Asn	rs577793089	missense variant	-	NC_000020.11:g.32787285G>A	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Tyr165His	rs1286287492	missense variant	-	NC_000020.11:g.32787290T>C	TOPMed
DNMT3B	Q9UBC3	p.Tyr165Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32787291A>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Thr167Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32787297C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Ile168Val	rs1344773962	missense variant	-	NC_000020.11:g.32787299A>G	TOPMed
DNMT3B	Q9UBC3	p.Asp169Asn	rs375097618	missense variant	-	NC_000020.11:g.32787302G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp169Asn	rs375097618	missense variant	-	NC_000020.11:g.32787302G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Thr171Arg	rs1025251402	missense variant	-	NC_000020.11:g.32787309C>G	TOPMed
DNMT3B	Q9UBC3	p.Thr171Ile	rs1025251402	missense variant	-	NC_000020.11:g.32787309C>T	TOPMed
DNMT3B	Q9UBC3	p.Asp172Glu	rs202113400	missense variant	-	NC_000020.11:g.32787313C>G	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp173Asn	rs906767301	missense variant	-	NC_000020.11:g.32787314G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp173Gly	rs1176877272	missense variant	-	NC_000020.11:g.32787315A>G	gnomAD
DNMT3B	Q9UBC3	p.Asp173Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32787314G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Thr174Ile	rs1444853007	missense variant	-	NC_000020.11:g.32787318C>T	gnomAD
DNMT3B	Q9UBC3	p.Thr174Ala	rs1369174968	missense variant	-	NC_000020.11:g.32787317A>G	gnomAD
DNMT3B	Q9UBC3	p.Thr174Ala	rs1369174968	missense variant	-	NC_000020.11:g.32787317A>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Glu175Lys	rs139477345	missense variant	-	NC_000020.11:g.32787320G>A	ESP
DNMT3B	Q9UBC3	p.Glu175Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.32787320G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Glu175Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32787322G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Asp176Gly	rs1362477544	missense variant	-	NC_000020.11:g.32787324A>G	TOPMed
DNMT3B	Q9UBC3	p.Thr177Ala	rs1280453183	missense variant	-	NC_000020.11:g.32787326A>G	gnomAD
DNMT3B	Q9UBC3	p.Gly179Arg	rs768144743	missense variant	-	NC_000020.11:g.32787332G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly179Val	COSM1411118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32787333G>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Thr180Met	rs537913125	missense variant	-	NC_000020.11:g.32787336C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Thr180Ala	rs747479840	missense variant	-	NC_000020.11:g.32787335A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Thr180Met	rs537913125	missense variant	-	NC_000020.11:g.32787336C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Pro181Ser	rs1033838676	missense variant	-	NC_000020.11:g.32787338C>T	TOPMed
DNMT3B	Q9UBC3	p.Gln182Arg	rs777001888	missense variant	-	NC_000020.11:g.32787342A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gln182Glu	rs1273871968	missense variant	-	NC_000020.11:g.32787341C>G	gnomAD
DNMT3B	Q9UBC3	p.Ser183Arg	rs369739363	missense variant	-	NC_000020.11:g.32787346C>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser183Asn	COSM3545303	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32787345G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser185Asn	rs763323430	missense variant	-	NC_000020.11:g.32787351G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser185Gly	rs775867512	missense variant	-	NC_000020.11:g.32787350A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Thr186Ala	rs764239931	missense variant	-	NC_000020.11:g.32787353A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro187Leu	rs774622592	missense variant	-	NC_000020.11:g.32787357C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro187Arg	rs774622592	missense variant	-	NC_000020.11:g.32787357C>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Tyr188Ter	RCV000413388	frameshift	-	NC_000020.11:g.32787359dup	ClinVar
DNMT3B	Q9UBC3	p.Tyr188ThrPheSerTerUnk	COSM1411120	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32787354C>-	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ala189Thr	rs147591633	missense variant	-	NC_000020.11:g.32787362G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala189Ser	rs147591633	missense variant	-	NC_000020.11:g.32787362G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala189Thr	RCV000556975	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32787362G>A	ClinVar
DNMT3B	Q9UBC3	p.Arg190His	rs774138031	missense variant	-	NC_000020.11:g.32787366G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg190Cys	rs140395707	missense variant	-	NC_000020.11:g.32787365C>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg190His	rs774138031	missense variant	-	NC_000020.11:g.32787366G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Gln193Ter	rs754662792	stop gained	-	NC_000020.11:g.32787374C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gln193His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32787376G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Asp194Glu	rs1446254980	missense variant	-	NC_000020.11:g.32787379C>G	gnomAD
DNMT3B	Q9UBC3	p.Ser195Ile	COSM723108	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32787381G>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Gln196His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32787385G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Gln197His	rs747675921	missense variant	-	NC_000020.11:g.32787388G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly198Glu	rs770040598	missense variant	-	NC_000020.11:g.32787390G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly198Arg	rs61758433	missense variant	-	NC_000020.11:g.32787389G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly198Trp	rs61758433	missense variant	-	NC_000020.11:g.32787389G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly198Arg	rs61758433	missense variant	-	NC_000020.11:g.32787389G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly198Ala	rs770040598	missense variant	-	NC_000020.11:g.32787390G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly199Asp	rs776039454	missense variant	-	NC_000020.11:g.32787393G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Met200Val	rs749501031	missense variant	-	NC_000020.11:g.32787395A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser202Phe	rs370244951	missense variant	-	NC_000020.11:g.32787402C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser202Tyr	rs370244951	missense variant	-	NC_000020.11:g.32787402C>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro203Leu	rs147945634	missense variant	-	NC_000020.11:g.32787405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro203Ser	rs1441646586	missense variant	-	NC_000020.11:g.32787404C>T	gnomAD
DNMT3B	Q9UBC3	p.Pro203Leu	RCV000636690	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32787405C>T	ClinVar
DNMT3B	Q9UBC3	p.Gln204Lys	rs1461904215	missense variant	-	NC_000020.11:g.32787407C>A	gnomAD
DNMT3B	Q9UBC3	p.Ala207Thr	rs145326983	missense variant	-	NC_000020.11:g.32787416G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala207Pro	rs145326983	missense variant	-	NC_000020.11:g.32787416G>C	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp208Ala	rs149227630	missense variant	-	NC_000020.11:g.32787420A>C	ESP
DNMT3B	Q9UBC3	p.Ser209Arg	rs1278887797	missense variant	-	NC_000020.11:g.32787422A>C	TOPMed
DNMT3B	Q9UBC3	p.Gly210Glu	rs1380291324	missense variant	-	NC_000020.11:g.32787426G>A	gnomAD
DNMT3B	Q9UBC3	p.Gly210Arg	rs773013635	missense variant	-	NC_000020.11:g.32787425G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser214Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32787438G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser215Leu	rs760734960	missense variant	-	NC_000020.11:g.32787441C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu216Gly	rs143402238	missense variant	-	NC_000020.11:g.32787444A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Tyr217His	rs1178977405	missense variant	-	NC_000020.11:g.32787446T>C	gnomAD
DNMT3B	Q9UBC3	p.Gln218His	rs1291907040	missense variant	-	NC_000020.11:g.32787451G>C	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp219Asn	rs376006476	missense variant	-	NC_000020.11:g.32788854G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly220Glu	rs773384575	missense variant	-	NC_000020.11:g.32788858G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly226Glu	RCV000722742	missense variant	-	NC_000020.11:g.32788876G>A	ClinVar
DNMT3B	Q9UBC3	p.Gly226Val	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32788876G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Asp227Asn	rs760505841	missense variant	-	NC_000020.11:g.32788878G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp227His	rs760505841	missense variant	-	NC_000020.11:g.32788878G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Leu228Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32788882T>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Leu228Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32788881C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Val229Met	COSM1025791	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32788884G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Trp230Arg	rs1345973894	missense variant	-	NC_000020.11:g.32788887T>A	gnomAD
DNMT3B	Q9UBC3	p.Ser237Phe	rs964977606	missense variant	-	NC_000020.11:g.32788909C>T	TOPMed
DNMT3B	Q9UBC3	p.Pro240Leu	COSM3545305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32788918C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ala241Thr	rs867559860	missense variant	-	NC_000020.11:g.32788920G>A	gnomAD
DNMT3B	Q9UBC3	p.Met242Ile	rs763490983	missense variant	-	NC_000020.11:g.32788925G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Met242Thr	rs762732247	missense variant	-	NC_000020.11:g.32788924T>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Met242Leu	rs199883886	missense variant	-	NC_000020.11:g.32788923A>C	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser245Thr	rs1180421296	missense variant	-	NC_000020.11:g.32788932T>A	gnomAD
DNMT3B	Q9UBC3	p.Lys247Glu	rs780710615	missense variant	-	NC_000020.11:g.32788938A>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg252Gln	rs754201724	missense variant	-	NC_000020.11:g.32788954G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg252Leu	rs754201724	missense variant	-	NC_000020.11:g.32788954G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gln253Arg	rs779489353	missense variant	-	NC_000020.11:g.32788957A>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Met255Val	rs996321864	missense variant	-	NC_000020.11:g.32788962A>G	TOPMed
DNMT3B	Q9UBC3	p.Gly257Asp	rs1389467513	missense variant	-	NC_000020.11:g.32788969G>A	gnomAD
DNMT3B	Q9UBC3	p.Arg259Gln	rs772383693	missense variant	-	NC_000020.11:g.32788975G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg259Trp	rs1422196524	missense variant	-	NC_000020.11:g.32788974C>T	gnomAD
DNMT3B	Q9UBC3	p.Arg259Pro	rs772383693	missense variant	-	NC_000020.11:g.32788975G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Trp260Ser	COSM6159413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32788978G>C	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Gln262Arg	rs770784575	missense variant	-	NC_000020.11:g.32788984A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Trp263Ter	rs776562712	stop gained	-	NC_000020.11:g.32788987G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asp266Glu	rs1283808255	missense variant	-	NC_000020.11:g.32788997T>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly267Asp	rs1357390175	missense variant	-	NC_000020.11:g.32788999G>A	gnomAD
DNMT3B	Q9UBC3	p.Ser270Pro	rs121908947	missense variant	-	NC_000020.11:g.32789007T>C	-
DNMT3B	Q9UBC3	p.Ser270Pro	rs121908947	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32789007T>C	UniProt,dbSNP
DNMT3B	Q9UBC3	p.Ser270Pro	VAR_022579	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32789007T>C	UniProt
DNMT3B	Q9UBC3	p.Ser270Cys	COSM418988	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32789008C>G	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser270Pro	RCV000007137	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32789007T>C	ClinVar
DNMT3B	Q9UBC3	p.Val272Ile	rs757314027	missense variant	-	NC_000020.11:g.32791601G>A	ExAC,TOPMed
DNMT3B	Q9UBC3	p.Ser273Phe	rs1327110669	missense variant	-	NC_000020.11:g.32791605C>T	TOPMed
DNMT3B	Q9UBC3	p.Val278Met	rs781314471	missense variant	-	NC_000020.11:g.32791619G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Leu280Pro	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32791626T>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Ala290Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32791655G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Thr291Ala	rs1330365498	missense variant	-	NC_000020.11:g.32791658A>G	TOPMed
DNMT3B	Q9UBC3	p.Leu295Val	rs1243294012	missense variant	-	NC_000020.11:g.32791670C>G	gnomAD
DNMT3B	Q9UBC3	p.Val296Ile	rs145632647	missense variant	-	NC_000020.11:g.32791673G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val296Leu	rs145632647	missense variant	-	NC_000020.11:g.32791673G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val296Ile	rs145632647	missense variant	-	NC_000020.11:g.32791673G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Val296Ile	RCV000702299	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32791673G>A	ClinVar
DNMT3B	Q9UBC3	p.Val296Ile	RCV000483268	missense variant	-	NC_000020.11:g.32791673G>A	ClinVar
DNMT3B	Q9UBC3	p.Tyr298Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32791680A>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Arg299Ter	COSM1025793	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32791682C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg299Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32791683G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Met302Thr	rs1391383394	missense variant	-	NC_000020.11:g.32791692T>C	TOPMed
DNMT3B	Q9UBC3	p.Met302Val	RCV000265593	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32791691A>G	ClinVar
DNMT3B	Q9UBC3	p.Met302Val	rs768136416	missense variant	-	NC_000020.11:g.32791691A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu307Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32791708G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Ala309Val	rs1362721885	missense variant	-	NC_000020.11:g.32792630C>T	gnomAD
DNMT3B	Q9UBC3	p.Val311Met	rs760264212	missense variant	-	NC_000020.11:g.32792635G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val311Leu	rs760264212	missense variant	-	NC_000020.11:g.32792635G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg312Leu	rs763435705	missense variant	-	NC_000020.11:g.32792639G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg312Ter	COSM2889529	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32792638C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Gly314Asp	rs764487838	missense variant	-	NC_000020.11:g.32792645G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly314Ser	rs951488082	missense variant	-	NC_000020.11:g.32792644G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr316Asn	rs138369083	missense variant	-	NC_000020.11:g.32792651C>A	ESP,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Thr316Ile	rs138369083	missense variant	-	NC_000020.11:g.32792651C>T	ESP,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro318Arg	rs1239545223	missense variant	-	NC_000020.11:g.32792657C>G	TOPMed
DNMT3B	Q9UBC3	p.Pro318Arg	rs1239545223	missense variant	-	NC_000020.11:g.32792657C>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser319Cys	rs761984399	missense variant	-	NC_000020.11:g.32792659A>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser320Arg	rs886056613	missense variant	-	NC_000020.11:g.32792664C>A	-
DNMT3B	Q9UBC3	p.Ser320Arg	RCV000380044	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32792664C>A	ClinVar
DNMT3B	Q9UBC3	p.Pro321Leu	rs767733477	missense variant	-	NC_000020.11:g.32792666C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro321Arg	rs767733477	missense variant	-	NC_000020.11:g.32792666C>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser324Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32792675C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Leu325Met	rs140978291	missense variant	-	NC_000020.11:g.32792677T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu326Ala	rs368635669	missense variant	-	NC_000020.11:g.32792681A>C	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gln328Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32792686C>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Trp335Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32792707T>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly338Arg	rs1013448701	missense variant	-	NC_000020.11:g.32792716G>A	gnomAD
DNMT3B	Q9UBC3	p.Gly338Arg	rs1013448701	missense variant	-	NC_000020.11:g.32792716G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly339Asp	rs754921958	missense variant	-	NC_000020.11:g.32792720G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly339Val	rs754921958	missense variant	-	NC_000020.11:g.32792720G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Phe340Leu	rs1430704492	missense variant	-	NC_000020.11:g.32792722T>C	gnomAD
DNMT3B	Q9UBC3	p.Lys341Glu	rs747983703	missense variant	-	NC_000020.11:g.32792725A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Thr343Ala	rs771781648	missense variant	-	NC_000020.11:g.32792731A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ile345Met	rs150148922	missense variant	-	NC_000020.11:g.32792739C>G	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu346Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32792740G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly347Val	rs770469129	missense variant	-	NC_000020.11:g.32792744G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly347Asp	COSM723106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32792744G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Pro350His	rs1432193518	missense variant	-	NC_000020.11:g.32792753C>A	TOPMed
DNMT3B	Q9UBC3	p.Asn351Ser	rs776044883	missense variant	-	NC_000020.11:g.32792756A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asn352Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32792759A>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Thr353Arg	rs763492333	missense variant	-	NC_000020.11:g.32792762C>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr353Lys	rs763492333	missense variant	-	NC_000020.11:g.32792762C>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr353Met	rs763492333	missense variant	-	NC_000020.11:g.32792762C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr353Met	rs763492333	missense variant	-	NC_000020.11:g.32792762C>T	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Gln354Ter	rs1158754730	stop gained	-	NC_000020.11:g.32792764C>T	TOPMed
DNMT3B	Q9UBC3	p.Val356Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32793536T>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Asn358Ile	rs760904691	missense variant	-	NC_000020.11:g.32793542A>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asn358Ser	rs760904691	missense variant	-	NC_000020.11:g.32793542A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Lys359Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32793545A>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser360Leu	rs766544393	missense variant	-	NC_000020.11:g.32793548C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Lys361Asn	rs759545374	missense variant	-	NC_000020.11:g.32793552G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Val362Leu	rs886056614	missense variant	-	NC_000020.11:g.32793553G>T	-
DNMT3B	Q9UBC3	p.Val362Leu	RCV000317127	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32793553G>T	ClinVar
DNMT3B	Q9UBC3	p.Arg363Cys	rs113400552	missense variant	-	NC_000020.11:g.32793556C>T	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg363His	rs138596278	missense variant	-	NC_000020.11:g.32793557G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg364Cys	rs752673059	missense variant	-	NC_000020.11:g.32793559C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg364His	rs369336236	missense variant	-	NC_000020.11:g.32793560G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala365Val	rs763959693	missense variant	-	NC_000020.11:g.32793563C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly366Asp	rs756893516	missense variant	-	NC_000020.11:g.32793566G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser367Asn	rs1020909881	missense variant	-	NC_000020.11:g.32793569G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg368Trp	rs1462697117	missense variant	-	NC_000020.11:g.32793571A>T	TOPMed
DNMT3B	Q9UBC3	p.Lys369Gln	rs780723199	missense variant	-	NC_000020.11:g.32793574A>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser372Pro	rs745594445	missense variant	-	NC_000020.11:g.32793583T>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu376Lys	rs201681031	missense variant	-	NC_000020.11:g.32793595G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu376Asp	rs779492871	missense variant	-	NC_000020.11:g.32795410G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu376Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32795410G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Thr379Ile	rs1361035589	missense variant	-	NC_000020.11:g.32795418C>T	TOPMed
DNMT3B	Q9UBC3	p.Arg380Ter	rs376213530	stop gained	-	NC_000020.11:g.32795420C>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg380Gln	rs148132847	missense variant	-	NC_000020.11:g.32795421G>A	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg380Gln	rs148132847	missense variant	-	NC_000020.11:g.32795421G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg380Ter	rs376213530	stop gained	-	NC_000020.11:g.32795420C>T	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg381Ser	rs1157629152	missense variant	-	NC_000020.11:g.32795425A>C	gnomAD
DNMT3B	Q9UBC3	p.Arg382His	rs771192296	missense variant	-	NC_000020.11:g.32795427G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg382Leu	rs771192296	missense variant	-	NC_000020.11:g.32795427G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg382Cys	rs35846833	missense variant	-	NC_000020.11:g.32795426C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg382Cys	RCV000524057	missense variant	-	NC_000020.11:g.32795426C>T	ClinVar
DNMT3B	Q9UBC3	p.Arg382Cys	RCV000529046	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32795426C>T	ClinVar
DNMT3B	Q9UBC3	p.Ala384Thr	RCV000541530	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32795432G>A	ClinVar
DNMT3B	Q9UBC3	p.Ala384Thr	rs150682895	missense variant	-	NC_000020.11:g.32795432G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp386Asn	rs763129781	missense variant	-	NC_000020.11:g.32795438G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp386His	rs763129781	missense variant	-	NC_000020.11:g.32795438G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser387Pro	rs768839073	missense variant	-	NC_000020.11:g.32795441T>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser387Leu	rs1006325628	missense variant	-	NC_000020.11:g.32795442C>T	TOPMed
DNMT3B	Q9UBC3	p.Ala388Val	rs774150930	missense variant	-	NC_000020.11:g.32795445C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ala388Asp	rs774150930	missense variant	-	NC_000020.11:g.32795445C>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asp391Tyr	rs750243629	missense variant	-	NC_000020.11:g.32795453G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Tyr392Cys	rs1291723327	missense variant	-	NC_000020.11:g.32795457A>G	gnomAD
DNMT3B	Q9UBC3	p.Tyr392His	rs1240916230	missense variant	-	NC_000020.11:g.32795456T>C	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala395Val	rs1268577906	missense variant	-	NC_000020.11:g.32795466C>T	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala395Thr	rs753291521	missense variant	-	NC_000020.11:g.32795465G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala395Pro	rs753291521	missense variant	-	NC_000020.11:g.32795465G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala395Thr	rs753291521	missense variant	-	NC_000020.11:g.32795465G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Pro396Ser	rs138171867	missense variant	-	NC_000020.11:g.32795468C>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg398Cys	rs778547539	missense variant	-	NC_000020.11:g.32795474C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg398His	rs751976489	missense variant	-	NC_000020.11:g.32795475G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg398His	rs751976489	missense variant	-	NC_000020.11:g.32795475G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Leu399Phe	rs373908368	missense variant	-	NC_000020.11:g.32795477C>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Lys400Gln	rs1158669480	missense variant	-	NC_000020.11:g.32795480A>C	gnomAD
DNMT3B	Q9UBC3	p.Thr401Ile	rs1445252390	missense variant	-	NC_000020.11:g.32795484C>T	TOPMed
DNMT3B	Q9UBC3	p.Thr401Ala	rs1302172329	missense variant	-	NC_000020.11:g.32795483A>G	TOPMed
DNMT3B	Q9UBC3	p.Cys403Tyr	rs1422711899	missense variant	-	NC_000020.11:g.32795490G>A	gnomAD
DNMT3B	Q9UBC3	p.Cys403Tyr	RCV000687250	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32795490_32795491delinsAT	ClinVar
DNMT3B	Q9UBC3	p.Tyr404Cys	rs143462810	missense variant	-	NC_000020.11:g.32795493A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Tyr404Cys	RCV000578148	missense variant	Kabuki syndrome 1 (KABUK1)	NC_000020.11:g.32795493A>G	ClinVar
DNMT3B	Q9UBC3	p.Asn406Asp	rs749589186	missense variant	-	NC_000020.11:g.32795498A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly407Ser	rs148646143	missense variant	-	NC_000020.11:g.32795501G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly407Ser	RCV000282009	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32795501G>A	ClinVar
DNMT3B	Q9UBC3	p.Arg410Gln	rs772079891	missense variant	-	NC_000020.11:g.32795511G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp412Tyr	rs772928880	missense variant	-	NC_000020.11:g.32795516G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gln415Lys	COSM1495031	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32795525C>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser416Gly	rs766216373	missense variant	-	NC_000020.11:g.32795528A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg417Ter	rs1458849374	stop gained	-	NC_000020.11:g.32795531C>T	gnomAD
DNMT3B	Q9UBC3	p.Arg417Gln	rs753480369	missense variant	-	NC_000020.11:g.32795532G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg417Ter	rs1458849374	stop gained	-	NC_000020.11:g.32795531C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Met420Val	rs1223208192	missense variant	-	NC_000020.11:g.32795655A>G	gnomAD
DNMT3B	Q9UBC3	p.Ala421Thr	rs1282274366	missense variant	-	NC_000020.11:g.32795658G>A	gnomAD
DNMT3B	Q9UBC3	p.Ala421Val	rs763754806	missense variant	-	NC_000020.11:g.32795659C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ala421Thr	rs1282274366	missense variant	-	NC_000020.11:g.32795658G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser422Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32795662C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Asp423Tyr	rs750930751	missense variant	-	NC_000020.11:g.32795664G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asn427Ser	rs1024581545	missense variant	-	NC_000020.11:g.32795677A>G	TOPMed
DNMT3B	Q9UBC3	p.Asn427Asp	rs1264777380	missense variant	-	NC_000020.11:g.32795676A>G	TOPMed
DNMT3B	Q9UBC3	p.Asn427Lys	rs756734821	missense variant	-	NC_000020.11:g.32795678C>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asn427Ile	rs1024581545	missense variant	-	NC_000020.11:g.32795677A>T	TOPMed
DNMT3B	Q9UBC3	p.Ser429Asn	rs1203334353	missense variant	-	NC_000020.11:g.32795683G>A	gnomAD
DNMT3B	Q9UBC3	p.Ser429Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32795683G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser430Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32795686G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Leu431PhePheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.32795684_32795685insTCATTCAA	NCI-TCGA
DNMT3B	Q9UBC3	p.Asp433Gly	rs1424661368	missense variant	-	NC_000020.11:g.32796790A>G	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly434Asp	rs774022931	missense variant	-	NC_000020.11:g.32796793G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser437Pro	rs563597562	missense variant	-	NC_000020.11:g.32796801T>C	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg440Lys	rs767000333	missense variant	-	NC_000020.11:g.32796811G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Lys441Arg	rs755360302	missense variant	-	NC_000020.11:g.32796814A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Lys441Glu	rs77949371	missense variant	-	NC_000020.11:g.32796813A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asn442Thr	rs1245224488	missense variant	-	NC_000020.11:g.32796817A>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Asn442Thr	rs1245224488	missense variant	-	NC_000020.11:g.32796817A>C	gnomAD
DNMT3B	Q9UBC3	p.Asn442Lys	rs765591135	missense variant	-	NC_000020.11:g.32796818C>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro443Ala	rs752929250	missense variant	-	NC_000020.11:g.32796819C>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro443Leu	rs530689863	missense variant	-	NC_000020.11:g.32796820C>T	1000Genomes,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro443Ser	rs752929250	missense variant	-	NC_000020.11:g.32796819C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val444Met	rs201465442	missense variant	-	NC_000020.11:g.32796822G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val444Leu	rs201465442	missense variant	-	NC_000020.11:g.32796822G>C	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val444Met	RCV000479168	missense variant	-	NC_000020.11:g.32796822G>A	ClinVar
DNMT3B	Q9UBC3	p.Phe446Ser	rs150736372	missense variant	-	NC_000020.11:g.32796829T>C	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Leu449Val	rs757117952	missense variant	-	NC_000020.11:g.32796837C>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Leu449Phe	rs757117952	missense variant	-	NC_000020.11:g.32796837C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu451Asp	rs200912653	missense variant	-	NC_000020.11:g.32796845G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu451Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.32796843G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly452Arg	rs1555839317	missense variant	-	NC_000020.11:g.32796846G>C	-
DNMT3B	Q9UBC3	p.Gly452Val	rs1406343280	missense variant	-	NC_000020.11:g.32796847G>T	gnomAD
DNMT3B	Q9UBC3	p.Gly452Arg	RCV000497771	missense variant	-	NC_000020.11:g.32796846G>C	ClinVar
DNMT3B	Q9UBC3	p.Gly453Ala	rs769626009	missense variant	-	NC_000020.11:g.32796850G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Leu454Val	rs546965300	missense variant	-	NC_000020.11:g.32796852C>G	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Leu454Phe	rs546965300	missense variant	-	NC_000020.11:g.32796852C>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Leu454SerPheSerTerUnkUnkUnk	COSM1411123	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32796845G>-	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Thr457Pro	rs1377006899	missense variant	-	NC_000020.11:g.32796861A>C	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr457Ala	rs1377006899	missense variant	-	NC_000020.11:g.32796861A>G	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Cys458Arg	rs891753303	missense variant	-	NC_000020.11:g.32796864T>C	TOPMed
DNMT3B	Q9UBC3	p.Arg459Gln	rs771769549	missense variant	-	NC_000020.11:g.32796868G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg461Cys	rs1169940446	missense variant	-	NC_000020.11:g.32797190C>T	TOPMed
DNMT3B	Q9UBC3	p.Arg461His	rs768977355	missense variant	-	NC_000020.11:g.32797191G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu464Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32797199G>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Tyr467Ser	rs1460250495	missense variant	-	NC_000020.11:g.32797209A>C	TOPMed
DNMT3B	Q9UBC3	p.Met468Thr	rs189867424	missense variant	-	NC_000020.11:g.32797212T>C	1000Genomes
DNMT3B	Q9UBC3	p.Met468Lys	rs189867424	missense variant	-	NC_000020.11:g.32797212T>A	1000Genomes
DNMT3B	Q9UBC3	p.Tyr469Cys	rs1456216460	missense variant	-	NC_000020.11:g.32797215A>G	gnomAD
DNMT3B	Q9UBC3	p.Asp471Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32797221A>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Asp472Tyr	rs767639124	missense variant	-	NC_000020.11:g.32797223G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Tyr474Cys	rs377551093	missense variant	-	NC_000020.11:g.32797230A>G	ESP,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Tyr477Ter	rs1447560356	stop gained	-	NC_000020.11:g.32797239dup	gnomAD
DNMT3B	Q9UBC3	p.Val480Met	rs1339280595	missense variant	-	NC_000020.11:g.32797247G>A	gnomAD
DNMT3B	Q9UBC3	p.Cys481Ser	rs1247590332	missense variant	-	NC_000020.11:g.32797250T>A	gnomAD
DNMT3B	Q9UBC3	p.Glu483Lys	COSM1713333	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32797256G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg485Gln	rs867242533	missense variant	-	NC_000020.11:g.32797263G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg485Gln	RCV000521490	missense variant	-	NC_000020.11:g.32797263G>A	ClinVar
DNMT3B	Q9UBC3	p.Arg485Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32797263G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Asn492Ser	rs753800000	missense variant	-	NC_000020.11:g.32797284A>G	ExAC
DNMT3B	Q9UBC3	p.Thr493Arg	rs755018555	missense variant	-	NC_000020.11:g.32797287C>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr493Ala	rs1184895593	missense variant	-	NC_000020.11:g.32797286A>G	TOPMed
DNMT3B	Q9UBC3	p.Thr493Met	rs755018555	missense variant	-	NC_000020.11:g.32797287C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr493Met	rs755018555	missense variant	-	NC_000020.11:g.32797287C>T	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg497Gln	rs777301633	missense variant	-	NC_000020.11:g.32797299G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg497Trp	rs757998715	missense variant	-	NC_000020.11:g.32797298C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg497Trp	rs757998715	missense variant	-	NC_000020.11:g.32797298C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Glu502Asp	rs1325284333	missense variant	-	NC_000020.11:g.32798475G>T	TOPMed
DNMT3B	Q9UBC3	p.Cys503Ter	NCI-TCGA novel	stop gained	-	NC_000020.11:g.32798478C>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Val506Met	rs994652433	missense variant	-	NC_000020.11:g.32798485G>A	gnomAD
DNMT3B	Q9UBC3	p.Val508Leu	rs1300094609	missense variant	-	NC_000020.11:g.32798491G>T	gnomAD
DNMT3B	Q9UBC3	p.Gly509Ser	rs1309967185	missense variant	-	NC_000020.11:g.32798494G>A	gnomAD
DNMT3B	Q9UBC3	p.Thr510Ile	rs1234722923	missense variant	-	NC_000020.11:g.32798498C>T	gnomAD
DNMT3B	Q9UBC3	p.Thr510Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32798498C>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly511Asp	rs200573841	missense variant	-	NC_000020.11:g.32798501G>A	-
DNMT3B	Q9UBC3	p.Gly511Asp	rs200573841	missense variant	-	NC_000020.11:g.32798501G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Thr512Ile	rs768306131	missense variant	-	NC_000020.11:g.32798504C>T	gnomAD
DNMT3B	Q9UBC3	p.Ala513Glu	rs116943489	missense variant	-	NC_000020.11:g.32798507C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala513Val	rs116943489	missense variant	-	NC_000020.11:g.32798507C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala514Ser	rs1488463962	missense variant	-	NC_000020.11:g.32798509G>T	gnomAD
DNMT3B	Q9UBC3	p.Ala514Gly	rs1156799209	missense variant	-	NC_000020.11:g.32798510C>G	gnomAD
DNMT3B	Q9UBC3	p.Glu515Lys	rs747146892	missense variant	-	NC_000020.11:g.32798512G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala516Val	rs771313778	missense variant	-	NC_000020.11:g.32798516C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Lys517Arg	rs759705660	missense variant	-	NC_000020.11:g.32798519A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Lys517Glu	rs776788630	missense variant	-	NC_000020.11:g.32798518A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu520Val	rs1241812878	missense variant	-	NC_000020.11:g.32798528A>T	TOPMed
DNMT3B	Q9UBC3	p.Pro521Thr	rs1292607347	missense variant	-	NC_000020.11:g.32798530C>A	gnomAD
DNMT3B	Q9UBC3	p.Cys524Ter	rs6058891	stop gained	-	NC_000020.11:g.32798541T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Tyr525His	rs1388120453	missense variant	-	NC_000020.11:g.32798542T>C	gnomAD
DNMT3B	Q9UBC3	p.Met526Ile	rs1237892253	missense variant	-	NC_000020.11:g.32798547G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Met526Ile	rs1237892253	missense variant	-	NC_000020.11:g.32798547G>T	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Met526Leu	rs763775814	missense variant	-	NC_000020.11:g.32798545A>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Met526Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32798546T>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Cys527Arg	VAR_077527	Missense	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]	-	UniProt
DNMT3B	Q9UBC3	p.Leu528Pro	rs555582979	missense variant	-	NC_000020.11:g.32798552T>C	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Leu528Phe	rs960330899	missense variant	-	NC_000020.11:g.32798551C>T	TOPMed
DNMT3B	Q9UBC3	p.Pro529Leu	rs767169378	missense variant	-	NC_000020.11:g.32798555C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Pro529Ser	rs761304747	missense variant	-	NC_000020.11:g.32798554C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro529Thr	rs761304747	missense variant	-	NC_000020.11:g.32798554C>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro529Leu	rs767169378	missense variant	-	NC_000020.11:g.32798555C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Arg531His	rs374520428	missense variant	-	NC_000020.11:g.32798561G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg531Pro	rs374520428	missense variant	-	NC_000020.11:g.32798561G>C	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg531Cys	rs200511977	missense variant	-	NC_000020.11:g.32798560C>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Cys532Arg	rs1237706309	missense variant	-	NC_000020.11:g.32798563T>C	gnomAD
DNMT3B	Q9UBC3	p.Cys532Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32798563T>G	NCI-TCGA
DNMT3B	Q9UBC3	p.His533Asn	rs758963586	missense variant	-	NC_000020.11:g.32798566C>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly534Asp	rs1181056763	missense variant	-	NC_000020.11:g.32798570G>A	gnomAD
DNMT3B	Q9UBC3	p.Val535Ala	rs1163172380	missense variant	-	NC_000020.11:g.32798573T>C	gnomAD
DNMT3B	Q9UBC3	p.Val535Ile	rs200193299	missense variant	-	NC_000020.11:g.32798572G>A	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg537Gln	rs544333946	missense variant	-	NC_000020.11:g.32798579G>A	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg537Trp	rs771223602	missense variant	-	NC_000020.11:g.32798578C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg537Trp	rs771223602	missense variant	-	NC_000020.11:g.32798578C>T	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg538Cys	rs987153673	missense variant	-	NC_000020.11:g.32798581C>T	TOPMed
DNMT3B	Q9UBC3	p.Arg538Cys	rs987153673	missense variant	-	NC_000020.11:g.32798581C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Arg539Trp	rs562665925	missense variant	-	NC_000020.11:g.32798584C>T	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg539Gln	rs1051749732	missense variant	-	NC_000020.11:g.32798585G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg539Gln	rs1051749732	missense variant	-	NC_000020.11:g.32798585G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Trp542Cys	rs1227641097	missense variant	-	NC_000020.11:g.32798595G>C	gnomAD
DNMT3B	Q9UBC3	p.Val544Leu	rs775688885	missense variant	-	NC_000020.11:g.32798599G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val544Met	rs775688885	missense variant	-	NC_000020.11:g.32798599G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg545His	rs572676072	missense variant	-	NC_000020.11:g.32798603G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg545Cys	rs372550911	missense variant	-	NC_000020.11:g.32798602C>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg545Cys	rs372550911	missense variant	-	NC_000020.11:g.32798602C>T	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg545His	rs572676072	missense variant	-	NC_000020.11:g.32798603G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Gln547Pro	rs1179565655	missense variant	-	NC_000020.11:g.32798609A>C	gnomAD
DNMT3B	Q9UBC3	p.Phe549Leu	rs773958724	missense variant	-	NC_000020.11:g.32798616C>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Phe549Leu	rs773958724	missense variant	-	NC_000020.11:g.32798616C>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser552Asn	rs1238835071	missense variant	-	NC_000020.11:g.32798624G>A	gnomAD
DNMT3B	Q9UBC3	p.Ser552Gly	rs1200658023	missense variant	-	NC_000020.11:g.32798623A>G	gnomAD
DNMT3B	Q9UBC3	p.Thr554Met	rs577581342	missense variant	-	NC_000020.11:g.32798630C>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr554Pro	rs1483248749	missense variant	-	NC_000020.11:g.32798629A>C	gnomAD
DNMT3B	Q9UBC3	p.Gly555Val	rs1424695736	missense variant	-	NC_000020.11:g.32798633G>T	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu557Lys	rs1422403201	missense variant	-	NC_000020.11:g.32798638G>A	gnomAD
DNMT3B	Q9UBC3	p.Ala560Thr	rs1173904784	missense variant	-	NC_000020.11:g.32799247G>A	gnomAD
DNMT3B	Q9UBC3	p.Pro565Ser	COSM3545309	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32799262C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ile567Val	rs773010625	missense variant	-	NC_000020.11:g.32799268A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ile567Thr	rs375825329	missense variant	-	NC_000020.11:g.32799269T>C	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala569Val	rs952998177	missense variant	-	NC_000020.11:g.32799275C>T	TOPMed
DNMT3B	Q9UBC3	p.Ala569Thr	rs1007955291	missense variant	-	NC_000020.11:g.32799274G>A	gnomAD
DNMT3B	Q9UBC3	p.Ala569Ser	rs1007955291	missense variant	-	NC_000020.11:g.32799274G>T	gnomAD
DNMT3B	Q9UBC3	p.Ala570Val	rs1217503696	missense variant	-	NC_000020.11:g.32799278C>T	gnomAD
DNMT3B	Q9UBC3	p.Arg571Ter	rs775949142	stop gained	-	NC_000020.11:g.32799280C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg571Leu	rs778795266	missense variant	-	NC_000020.11:g.32799281G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg571Gln	rs778795266	missense variant	-	NC_000020.11:g.32799281G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg571Gln	rs778795266	missense variant	-	NC_000020.11:g.32799281G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg572Ser	COSM1411127	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32799285G>C	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg573Trp	rs764722946	missense variant	-	NC_000020.11:g.32799286C>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg573Gln	rs143300013	missense variant	-	NC_000020.11:g.32799287G>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg573Trp	rs764722946	missense variant	-	NC_000020.11:g.32799286C>T	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg576Ter	rs1226308460	stop gained	-	NC_000020.11:g.32799295C>T	TOPMed
DNMT3B	Q9UBC3	p.Arg576Gln	rs757889243	missense variant	-	NC_000020.11:g.32799296G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg576Gln	rs757889243	missense variant	-	NC_000020.11:g.32799296G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg576Ter	rs1226308460	stop gained	-	NC_000020.11:g.32799295C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Val577Ile	rs1330985113	missense variant	-	NC_000020.11:g.32799298G>A	TOPMed
DNMT3B	Q9UBC3	p.Ile584Leu	rs1242298577	missense variant	-	NC_000020.11:g.32799319A>C	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ile584Val	rs1242298577	missense variant	-	NC_000020.11:g.32799319A>G	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala585Thr	rs750849178	missense variant	-	NC_000020.11:g.32799322G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ala585Val	COSM4097607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32799323C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ala585Val	VAR_011506	Missense	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]	-	UniProt
DNMT3B	Q9UBC3	p.Gly587Asp	rs148312208	missense variant	-	NC_000020.11:g.32800153G>A	ESP,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly587Ser	rs1435332436	missense variant	-	NC_000020.11:g.32799328G>A	gnomAD
DNMT3B	Q9UBC3	p.Lys592Arg	rs367796697	missense variant	-	NC_000020.11:g.32800168A>G	ESP,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly599Glu	rs770730685	missense variant	-	NC_000020.11:g.32800189G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Lys600Asn	rs780900853	missense variant	-	NC_000020.11:g.32800193G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val602Ile	rs752495145	missense variant	-	NC_000020.11:g.32800197G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val602Ile	RCV000305828	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32800197G>A	ClinVar
DNMT3B	Q9UBC3	p.Val602Ile	rs752495145	missense variant	-	NC_000020.11:g.32800197G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ala603Thr	rs121908943	missense variant	-	NC_000020.11:g.32800200G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala603Thr	rs121908943	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32800200G>A	UniProt,dbSNP
DNMT3B	Q9UBC3	p.Ala603Thr	VAR_011499	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32800200G>A	UniProt
DNMT3B	Q9UBC3	p.Ala603Thr	RCV000007132	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32800200G>A	ClinVar
DNMT3B	Q9UBC3	p.Ala603Thr	rs121908943	missense variant	-	NC_000020.11:g.32800200G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser604Phe	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32800204C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Val606Met	rs1471648371	missense variant	-	NC_000020.11:g.32800209G>A	gnomAD
DNMT3B	Q9UBC3	p.Cys607Tyr	rs1165250227	missense variant	-	NC_000020.11:g.32800213G>A	gnomAD
DNMT3B	Q9UBC3	p.Ala612Thr	rs762537914	missense variant	-	NC_000020.11:g.32800227G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala612Ser	rs762537914	missense variant	-	NC_000020.11:g.32800227G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala612Ser	RCV000541656	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32800227G>T	ClinVar
DNMT3B	Q9UBC3	p.Ala612Thr	rs762537914	missense variant	-	NC_000020.11:g.32800227G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Val613Phe	rs768347895	missense variant	-	NC_000020.11:g.32800230G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val613Leu	rs768347895	missense variant	-	NC_000020.11:g.32800230G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val613Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32800230G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly614Glu	rs773822999	missense variant	-	NC_000020.11:g.32800234G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly614Val	COSM6092843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32800234G>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Thr615Asn	rs138244100	missense variant	-	NC_000020.11:g.32800237C>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Thr615Ile	rs138244100	missense variant	-	NC_000020.11:g.32800237C>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val616Met	rs754182982	missense variant	-	NC_000020.11:g.32800239G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Val616Met	rs754182982	missense variant	-	NC_000020.11:g.32800239G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.His618Gln	rs759732480	missense variant	-	NC_000020.11:g.32800247C>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu619Asp	rs758232673	missense variant	-	NC_000020.11:g.32800250G>T	gnomAD
DNMT3B	Q9UBC3	p.Glu619Lys	rs576798456	missense variant	-	NC_000020.11:g.32800248G>A	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu619Lys	rs576798456	missense variant	-	NC_000020.11:g.32800248G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly620Arg	rs932308287	missense variant	-	NC_000020.11:g.32800251G>A	gnomAD
DNMT3B	Q9UBC3	p.Asn621Ser	rs371864380	missense variant	-	NC_000020.11:g.32800255A>G	ESP
DNMT3B	Q9UBC3	p.Ile622Val	rs758473556	missense variant	-	NC_000020.11:g.32800257A>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Tyr624Ter	rs143711646	stop gained	-	NC_000020.11:g.32800265C>A	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Tyr624Phe	rs751494757	missense variant	-	NC_000020.11:g.32800264A>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Tyr624His	rs1181758591	missense variant	-	NC_000020.11:g.32800263T>C	TOPMed
DNMT3B	Q9UBC3	p.Val625Met	rs201657518	missense variant	-	NC_000020.11:g.32800266G>A	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val625Leu	rs201657518	missense variant	-	NC_000020.11:g.32800266G>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val625Met	rs201657518	missense variant	-	NC_000020.11:g.32800266G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Asp627Asn	rs1477651398	missense variant	-	NC_000020.11:g.32800272G>A	gnomAD
DNMT3B	Q9UBC3	p.Asp627Asn	rs1477651398	missense variant	-	NC_000020.11:g.32800272G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Val628Met	rs748988879	missense variant	-	NC_000020.11:g.32800275G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Val628Met	rs748988879	missense variant	-	NC_000020.11:g.32800275G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Asn630Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32800282A>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Ile636Val	rs770124472	missense variant	-	NC_000020.11:g.32800835A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly640Asp	rs1236410976	missense variant	-	NC_000020.11:g.32800848G>A	gnomAD
DNMT3B	Q9UBC3	p.Leu644Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32800860T>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Val645Met	rs1214237513	missense variant	-	NC_000020.11:g.32800862G>A	gnomAD
DNMT3B	Q9UBC3	p.Ile646Val	rs774431732	missense variant	-	NC_000020.11:g.32800865A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ile646Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32800866T>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly648Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32800871G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Pro650Ser	rs767675287	missense variant	-	NC_000020.11:g.32800877C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Pro650Leu	rs371697425	missense variant	-	NC_000020.11:g.32800878C>T	ESP,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Cys651Arg	rs1194842723	missense variant	-	NC_000020.11:g.32800880T>C	gnomAD
DNMT3B	Q9UBC3	p.Asp653Asn	RCV000498054	missense variant	-	NC_000020.11:g.32800886G>A	ClinVar
DNMT3B	Q9UBC3	p.Asp653Asn	rs1438362757	missense variant	-	NC_000020.11:g.32800886G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asp653Asn	rs1438362757	missense variant	-	NC_000020.11:g.32800886G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Asn658Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32800903T>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Ala660Asp	rs753687325	missense variant	-	NC_000020.11:g.32800908C>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg661Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32800910A>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly663Ser	rs121908942	missense variant	-	NC_000020.11:g.32800916G>A	-
DNMT3B	Q9UBC3	p.Gly663Ser	rs121908942	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32800916G>A	UniProt,dbSNP
DNMT3B	Q9UBC3	p.Gly663Ser	VAR_011500	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32800916G>A	UniProt
DNMT3B	Q9UBC3	p.Gly663Ala	rs201168560	missense variant	-	NC_000020.11:g.32800917G>C	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly663Ser	RCV000007128	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32800916G>A	ClinVar
DNMT3B	Q9UBC3	p.Leu664Pro	VAR_022580	Missense	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]	-	UniProt
DNMT3B	Q9UBC3	p.Tyr665Cys	rs747897729	missense variant	-	NC_000020.11:g.32800923A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg670Trp	rs756558325	missense variant	-	NC_000020.11:g.32801289C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg670Trp	rs756558325	missense variant	-	NC_000020.11:g.32801289C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Leu671Phe	rs936186612	missense variant	-	NC_000020.11:g.32801292C>T	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu674Lys	rs749860839	missense variant	-	NC_000020.11:g.32801301G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu674Lys	rs749860839	missense variant	-	NC_000020.11:g.32801301G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Tyr681His	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32801322T>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser682Ala	rs1186097689	missense variant	-	NC_000020.11:g.32801325T>G	TOPMed
DNMT3B	Q9UBC3	p.Arg683Cys	rs377397627	missense variant	-	NC_000020.11:g.32801328C>T	ESP,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg683His	rs1165118132	missense variant	-	NC_000020.11:g.32801329G>A	gnomAD
DNMT3B	Q9UBC3	p.Arg683His	rs1165118132	missense variant	-	NC_000020.11:g.32801329G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Lys685Glu	rs1407677251	missense variant	-	NC_000020.11:g.32801334A>G	gnomAD
DNMT3B	Q9UBC3	p.Glu686Asp	rs773365247	missense variant	-	NC_000020.11:g.32801339G>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly687Val	rs559662934	missense variant	-	NC_000020.11:g.32801341G>T	gnomAD
DNMT3B	Q9UBC3	p.Gly687Asp	rs559662934	missense variant	-	NC_000020.11:g.32801341G>A	gnomAD
DNMT3B	Q9UBC3	p.Gly687Asp	rs559662934	missense variant	-	NC_000020.11:g.32801341G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Asp688Glu	rs913519656	missense variant	-	NC_000020.11:g.32801345T>A	gnomAD
DNMT3B	Q9UBC3	p.Pro691Leu	rs889145646	missense variant	-	NC_000020.11:g.32801353C>T	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Trp694Cys	COSM3991635	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32801363G>C	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Phe696Leu	COSM4097609	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32801367T>C	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Val699Leu	RCV000762344	missense variant	-	NC_000020.11:g.32801376G>C	ClinVar
DNMT3B	Q9UBC3	p.Val699Gly	VAR_011508	Missense	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]	-	UniProt
DNMT3B	Q9UBC3	p.Val700Leu	rs771197329	missense variant	-	NC_000020.11:g.32801379G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Val704Ala	rs1216492184	missense variant	-	NC_000020.11:g.32801392T>C	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val704Ile	rs776675936	missense variant	-	NC_000020.11:g.32801391G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Gly705Asp	rs1290986300	missense variant	-	NC_000020.11:g.32801395G>A	TOPMed
DNMT3B	Q9UBC3	p.Asp706Asn	rs996239307	missense variant	-	NC_000020.11:g.32801397G>A	gnomAD
DNMT3B	Q9UBC3	p.Arg712Trp	rs1282923538	missense variant	-	NC_000020.11:g.32801415C>T	gnomAD
DNMT3B	Q9UBC3	p.Arg712Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32801416G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Glu715Gln	rs1394914089	missense variant	-	NC_000020.11:g.32801424G>C	TOPMed
DNMT3B	Q9UBC3	p.Pro718Ser	COSM6159409	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32802391C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Val719Leu	COSM70508	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32802394G>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Met720Ile	rs370027566	missense variant	-	NC_000020.11:g.32802399G>T	ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ile721Thr	rs1319146760	missense variant	-	NC_000020.11:g.32802401T>C	gnomAD
DNMT3B	Q9UBC3	p.Asp722Asn	rs1056119394	missense variant	-	NC_000020.11:g.32802403G>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala723Thr	rs1256702701	missense variant	-	NC_000020.11:g.32802406G>A	TOPMed
DNMT3B	Q9UBC3	p.Ala723Asp	rs1176559934	missense variant	-	NC_000020.11:g.32802407C>A	TOPMed
DNMT3B	Q9UBC3	p.Ile724Val	rs189425528	missense variant	-	NC_000020.11:g.32802409A>G	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Val726Gly	rs121908941	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32802416T>G	UniProt,dbSNP
DNMT3B	Q9UBC3	p.Val726Gly	VAR_011501	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32802416T>G	UniProt
DNMT3B	Q9UBC3	p.Val726Gly	rs121908941	missense variant	-	NC_000020.11:g.32802416T>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.His730Tyr	rs1240056301	missense variant	-	NC_000020.11:g.32802427C>T	gnomAD
DNMT3B	Q9UBC3	p.Arg731Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32802431G>C	NCI-TCGA
DNMT3B	Q9UBC3	p.Ala732Thr	rs758755934	missense variant	-	NC_000020.11:g.32802433G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala732Pro	rs758755934	missense variant	-	NC_000020.11:g.32802433G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg733Gln	rs747182299	missense variant	-	NC_000020.11:g.32802437G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg733Gln	RCV000498596	missense variant	-	NC_000020.11:g.32802437G>A	ClinVar
DNMT3B	Q9UBC3	p.Arg733Ter	COSM126659	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32802436C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Phe735Ser	rs1284473301	missense variant	-	NC_000020.11:g.32802443T>C	gnomAD
DNMT3B	Q9UBC3	p.Gly737Cys	COSM6159407	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32802448G>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Gly737Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32802448G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Gly741Arg	rs769823434	missense variant	-	NC_000020.11:g.32802460G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly741Val	rs775494858	missense variant	-	NC_000020.11:g.32802461G>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Arg744Ser	COSM723103	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32805338G>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Val746Met	rs139777286	missense variant	-	NC_000020.11:g.32805342G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val746Gly	rs121908944	missense variant	-	NC_000020.11:g.32805343T>G	-
DNMT3B	Q9UBC3	p.Val746Gly	RCV000007134	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32805343T>G	ClinVar
DNMT3B	Q9UBC3	p.Ile747Leu	rs144522017	missense variant	-	NC_000020.11:g.32805345A>C	ESP,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ile747Thr	COSM443642	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32805346T>C	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ala748Thr	rs770423841	missense variant	-	NC_000020.11:g.32805348G>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ala748Val	rs1273316071	missense variant	-	NC_000020.11:g.32805349C>T	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Asn751Ser	rs776039012	missense variant	-	NC_000020.11:g.32805358A>G	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asn751Tyr	rs1469534868	missense variant	-	NC_000020.11:g.32805357A>T	gnomAD
DNMT3B	Q9UBC3	p.Asp752Val	rs763489815	missense variant	-	NC_000020.11:g.32805361A>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Glu755Gln	rs764716011	missense variant	-	NC_000020.11:g.32805369G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu755Lys	rs764716011	missense variant	-	NC_000020.11:g.32805369G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Leu756Met	rs752174027	missense variant	-	NC_000020.11:g.32805372C>A	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asp758Asn	rs539018090	missense variant	-	NC_000020.11:g.32805378G>A	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu761Gln	rs767814649	missense variant	-	NC_000020.11:g.32805387G>C	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg764Ser	rs759448571	missense variant	-	NC_000020.11:g.32805398G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg764Trp	rs372465791	missense variant	-	NC_000020.11:g.32805396A>T	ESP,TOPMed
DNMT3B	Q9UBC3	p.Arg764Thr	rs1470720257	missense variant	-	NC_000020.11:g.32805397G>C	gnomAD
DNMT3B	Q9UBC3	p.Arg764Ser	RCV000544568	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32805398G>T	ClinVar
DNMT3B	Q9UBC3	p.Ile765Val	rs756320752	missense variant	-	NC_000020.11:g.32805399A>G	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala766Pro	rs1191203668	missense variant	-	NC_000020.11:g.32805402G>C	gnomAD
DNMT3B	Q9UBC3	p.Lys767Arg	rs1476034675	missense variant	-	NC_000020.11:g.32805406A>G	gnomAD
DNMT3B	Q9UBC3	p.Lys767Asn	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32805407G>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Val771Ile	RCV000296781	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32806218G>A	ClinVar
DNMT3B	Q9UBC3	p.Val771Ile	rs886056617	missense variant	-	NC_000020.11:g.32806218G>A	-
DNMT3B	Q9UBC3	p.Ile774Val	rs1165707563	missense variant	-	NC_000020.11:g.32806227A>G	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ser778Leu	COSM3911101	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32806240C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Asn779His	rs750756624	missense variant	-	NC_000020.11:g.32806242A>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser780Leu	COSM3727315	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32806246C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser780Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32806246C>G	NCI-TCGA
DNMT3B	Q9UBC3	p.Lys782Asn	rs1555842652	missense variant	-	NC_000020.11:g.32806253A>C	-
DNMT3B	Q9UBC3	p.Lys782Arg	rs564957434	missense variant	-	NC_000020.11:g.32806252A>G	1000Genomes,ExAC,gnomAD
DNMT3B	Q9UBC3	p.Lys782Asn	RCV000636688	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32806253A>C	ClinVar
DNMT3B	Q9UBC3	p.Lys782Ile	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32806252A>T	NCI-TCGA
DNMT3B	Q9UBC3	p.Asn786Lys	rs868828837	missense variant	-	NC_000020.11:g.32806265C>A	gnomAD
DNMT3B	Q9UBC3	p.Asn786Ser	rs1236388289	missense variant	-	NC_000020.11:g.32806264A>G	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gln787His	rs369258965	missense variant	-	NC_000020.11:g.32806268A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Lys796Glu	rs1325488291	missense variant	-	NC_000020.11:g.32806293A>G	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Glu797Asp	rs758296438	missense variant	-	NC_000020.11:g.32806298A>C	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Leu800Phe	rs1251215877	missense variant	-	NC_000020.11:g.32806307G>T	gnomAD
DNMT3B	Q9UBC3	p.Thr803Ala	rs1470267081	missense variant	-	NC_000020.11:g.32806314A>G	gnomAD
DNMT3B	Q9UBC3	p.Glu806Lys	rs1330224703	missense variant	-	NC_000020.11:g.32806323G>A	gnomAD
DNMT3B	Q9UBC3	p.Glu806Gly	COSM1025813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32806324A>G	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Glu806insGluSerThrPro	VAR_011502	inframe_insertion	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]	-	UniProt
DNMT3B	Q9UBC3	p.Pro812Ser	NCI-TCGA novel	missense variant	-	NC_000020.11:g.32807775C>T	NCI-TCGA
DNMT3B	Q9UBC3	p.His814Arg	rs1219696128	missense variant	-	NC_000020.11:g.32807782A>G	TOPMed
DNMT3B	Q9UBC3	p.His814Arg	rs1219696128	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807782A>G	UniProt,dbSNP
DNMT3B	Q9UBC3	p.His814Arg	VAR_011510	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807782A>G	UniProt
DNMT3B	Q9UBC3	p.His814Asn	rs1460397140	missense variant	-	NC_000020.11:g.32807781C>A	gnomAD
DNMT3B	Q9UBC3	p.Thr816Ile	rs765258381	missense variant	-	NC_000020.11:g.32807788C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Asp817Gly	rs121908939	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807791A>G	UniProt,dbSNP
DNMT3B	Q9UBC3	p.Asp817Gly	VAR_011503	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807791A>G	UniProt
DNMT3B	Q9UBC3	p.Asp817Gly	rs121908939	missense variant	-	NC_000020.11:g.32807791A>G	-
DNMT3B	Q9UBC3	p.Asp817Gly	RCV000007125	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32807791A>G	ClinVar
DNMT3B	Q9UBC3	p.Val818Leu	rs121908940	missense variant	-	NC_000020.11:g.32807793G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val818Met	rs121908940	missense variant	-	NC_000020.11:g.32807793G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Val818Met	rs121908940	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807793G>A	UniProt,dbSNP
DNMT3B	Q9UBC3	p.Val818Met	VAR_011504	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807793G>A	UniProt
DNMT3B	Q9UBC3	p.Val818Met	RCV000845251	missense variant	-	NC_000020.11:g.32807793G>A	ClinVar
DNMT3B	Q9UBC3	p.Val818Met	rs121908940	missense variant	-	NC_000020.11:g.32807793G>A	NCI-TCGA,NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ser819Phe	rs1348564459	missense variant	-	NC_000020.11:g.32807797C>T	TOPMed
DNMT3B	Q9UBC3	p.Ser819Cys	rs1348564459	missense variant	-	NC_000020.11:g.32807797C>G	TOPMed
DNMT3B	Q9UBC3	p.Asn820Ser	rs536641010	missense variant	-	NC_000020.11:g.32807800A>G	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Gly824Ser	rs1306339773	missense variant	-	NC_000020.11:g.32807811G>A	gnomAD
DNMT3B	Q9UBC3	p.Ala825Thr	rs1366734818	missense variant	-	NC_000020.11:g.32807814G>A	TOPMed
DNMT3B	Q9UBC3	p.Arg826Leu	rs756972254	missense variant	-	NC_000020.11:g.32807818G>T	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg826His	rs756972254	missense variant	-	NC_000020.11:g.32807818G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg826Cys	rs201579632	missense variant	-	NC_000020.11:g.32807817C>T	1000Genomes,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg826His	rs756972254	missense variant	-	NC_000020.11:g.32807818G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Ser833Phe	rs781183120	missense variant	-	NC_000020.11:g.32807839C>T	ExAC,gnomAD
DNMT3B	Q9UBC3	p.Ser835Arg	rs955772228	missense variant	-	NC_000020.11:g.32807846C>A	TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg840Gln	rs121908946	missense variant	-	NC_000020.11:g.32807860G>A	ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Arg840Gln	rs121908946	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807860G>A	UniProt,dbSNP
DNMT3B	Q9UBC3	p.Arg840Gln	VAR_022581	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807860G>A	UniProt
DNMT3B	Q9UBC3	p.Arg840Ter	rs1182001726	stop gained	-	NC_000020.11:g.32807859C>T	gnomAD
DNMT3B	Q9UBC3	p.Arg840Ter	rs1182001726	stop gained	-	NC_000020.11:g.32807859C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Arg840Gln	RCV000007136	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32807860G>A	ClinVar
DNMT3B	Q9UBC3	p.Arg840Gln	rs121908946	missense variant	-	NC_000020.11:g.32807860G>A	NCI-TCGA
DNMT3B	Q9UBC3	p.Leu842HisPhePhePheAspLeuProThrValPheTerValTerLysTerLeuUnk	rs1426676696	stop gained	-	NC_000020.11:g.32807865_32807866insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT	gnomAD
DNMT3B	Q9UBC3	p.Leu842Phe	rs1189341990	missense variant	-	NC_000020.11:g.32807865C>T	gnomAD
DNMT3B	Q9UBC3	p.Phe843Leu	rs147402935	missense variant	-	NC_000020.11:g.32807870C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Phe843Leu	rs147402935	missense variant	-	NC_000020.11:g.32807870C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DNMT3B	Q9UBC3	p.Ala844Thr	rs1267164985	missense variant	-	NC_000020.11:g.32807871G>A	TOPMed
DNMT3B	Q9UBC3	p.Ala844Thr	rs1267164985	missense variant	-	NC_000020.11:g.32807871G>A	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Pro845Ser	COSM3545321	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32807874C>T	NCI-TCGA Cosmic
DNMT3B	Q9UBC3	p.Ter854Gln	rs773561827	stop lost	-	NC_000020.11:g.32807901T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu5Val	rs763313419	missense variant	-	NC_000005.10:g.7870807C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Ala9Gly	rs751400453	missense variant	-	NC_000005.10:g.7870820C>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala9Thr	rs1279274094	missense variant	-	NC_000005.10:g.7870819G>A	gnomAD
MTRR	Q9UBK8	p.Gln14Pro	rs756074729	missense variant	-	NC_000005.10:g.7870835A>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Ala15Ser	rs777323334	missense variant	-	NC_000005.10:g.7870837G>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala15Thr	rs777323334	missense variant	-	NC_000005.10:g.7870837G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile18Thr	rs1303591627	missense variant	-	NC_000005.10:g.7870847T>C	TOPMed
MTRR	Q9UBK8	p.Ile18Val	rs753325140	missense variant	-	NC_000005.10:g.7870846A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Ala19Thr	rs114847469	missense variant	-	NC_000005.10:g.7870849G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala19Val	rs954239819	missense variant	-	NC_000005.10:g.7870850C>T	TOPMed
MTRR	Q9UBK8	p.Glu20Lys	rs769772796	missense variant	-	NC_000005.10:g.7870852G>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Glu21Asp	rs747426239	missense variant	-	NC_000005.10:g.7870857A>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile22Met	rs1801394	missense variant	-	NC_000005.10:g.7870860A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile22Met	RCV000211244	missense variant	-	NC_000005.10:g.7870860A>G	ClinVar
MTRR	Q9UBK8	p.Cys23Ser	rs1392496338	missense variant	-	NC_000005.10:g.7870862G>C	gnomAD
MTRR	Q9UBK8	p.Cys23Arg	rs781726691	missense variant	-	NC_000005.10:g.7870861T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Glu24Gln	rs1442895511	missense variant	-	NC_000005.10:g.7870864G>C	gnomAD
MTRR	Q9UBK8	p.Gln25Glu	rs748657512	missense variant	-	NC_000005.10:g.7870867C>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln25Lys	rs748657512	missense variant	-	NC_000005.10:g.7870867C>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln25Ter	rs748657512	stop gained	-	NC_000005.10:g.7870867C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val28Ala	rs773463459	missense variant	-	NC_000005.10:g.7870877T>C	ExAC
MTRR	Q9UBK8	p.His29Pro	rs1180892266	missense variant	-	NC_000005.10:g.7870880A>C	TOPMed
MTRR	Q9UBK8	p.Gly30Glu	rs749337272	missense variant	-	NC_000005.10:g.7870883G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Asp34His	rs771299380	missense variant	-	NC_000005.10:g.7870894G>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Asp34Val	rs141118068	missense variant	-	NC_000005.10:g.7870895A>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.His36Tyr	rs1270933581	missense variant	-	NC_000005.10:g.7870900C>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Cys37Ser	rs1355059196	missense variant	-	NC_000005.10:g.7870904G>C	TOPMed
MTRR	Q9UBK8	p.Ile38Val	rs1285884178	missense variant	-	NC_000005.10:g.7870906A>G	TOPMed
MTRR	Q9UBK8	p.Glu40Asp	rs1237366737	missense variant	-	NC_000005.10:g.7870914A>C	TOPMed
MTRR	Q9UBK8	p.Asp42Asn	rs767281477	missense variant	-	NC_000005.10:g.7870918G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Asp42Gly	rs775343389	missense variant	-	NC_000005.10:g.7870919A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys43Glu	rs937595017	missense variant	-	NC_000005.10:g.7870921A>G	gnomAD
MTRR	Q9UBK8	p.Lys43Arg	rs1475257055	missense variant	-	NC_000005.10:g.7870922A>G	gnomAD
MTRR	Q9UBK8	p.Tyr44Cys	rs1327568849	missense variant	-	NC_000005.10:g.7873374A>G	gnomAD
MTRR	Q9UBK8	p.Thr48Ser	rs1245537301	missense variant	-	NC_000005.10:g.7873386C>G	gnomAD
MTRR	Q9UBK8	p.Val54Leu	rs557317536	missense variant	-	NC_000005.10:g.7873403G>C	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Val54Ile	rs557317536	missense variant	-	NC_000005.10:g.7873403G>A	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Val54Ala	rs778427395	missense variant	-	NC_000005.10:g.7873404T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Val54del	VAR_012837	inframe_deletion	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
MTRR	Q9UBK8	p.Val55Ile	rs749876129	missense variant	-	NC_000005.10:g.7873406G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val55Ala	rs757825721	missense variant	-	NC_000005.10:g.7873407T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Val56Leu	rs761061866	missense variant	-	NC_000005.10:g.7873409G>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val56Met	rs761061866	missense variant	-	NC_000005.10:g.7873409G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val56Met	rs761061866	missense variant	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)	NC_000005.10:g.7873409G>A	UniProt,dbSNP
MTRR	Q9UBK8	p.Val56Met	VAR_012838	missense variant	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)	NC_000005.10:g.7873409G>A	UniProt
MTRR	Q9UBK8	p.Val57Ala	rs745929848	missense variant	-	NC_000005.10:g.7873413T>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr60Ala	rs114930926	missense variant	-	NC_000005.10:g.7873421A>G	1000Genomes
MTRR	Q9UBK8	p.Thr60Met	rs369457823	missense variant	-	NC_000005.10:g.7873422C>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly61Ser	rs1453598509	missense variant	-	NC_000005.10:g.7873424G>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly61Asp	rs768376029	missense variant	-	NC_000005.10:g.7873425G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly63Arg	rs759310852	missense variant	-	NC_000005.10:g.7873430G>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp67Asn	rs761784045	missense variant	-	NC_000005.10:g.7873442G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr68Ala	rs769737059	missense variant	-	NC_000005.10:g.7873445A>G	ExAC
MTRR	Q9UBK8	p.Arg70His	rs777202031	missense variant	-	NC_000005.10:g.7873452G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg70Cys	rs374239028	missense variant	-	NC_000005.10:g.7873451C>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg70Leu	rs777202031	missense variant	-	NC_000005.10:g.7873452G>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg70Cys	RCV000322148	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7873451C>T	ClinVar
MTRR	Q9UBK8	p.Arg70Cys	RCV000811882	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7873451C>T	ClinVar
MTRR	Q9UBK8	p.Arg70His	RCV000545313	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7873452G>A	ClinVar
MTRR	Q9UBK8	p.Lys71Arg	rs759256334	missense variant	-	NC_000005.10:g.7873455A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys71Glu	rs1299635422	missense variant	-	NC_000005.10:g.7873454A>G	gnomAD
MTRR	Q9UBK8	p.Phe72Leu	rs546104831	missense variant	-	NC_000005.10:g.7873457T>C	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Glu75Ala	rs1337565844	missense variant	-	NC_000005.10:g.7873467A>C	gnomAD
MTRR	Q9UBK8	p.Glu75Lys	rs1270054998	missense variant	-	NC_000005.10:g.7873466G>A	gnomAD
MTRR	Q9UBK8	p.Gln77Arg	rs138569211	missense variant	-	NC_000005.10:g.7873473A>G	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asn78Lys	rs757746363	missense variant	-	NC_000005.10:g.7873477C>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln79His	rs750493900	missense variant	-	NC_000005.10:g.7873480A>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu81Arg	rs377201796	missense variant	-	NC_000005.10:g.7873485T>G	ESP,ExAC
MTRR	Q9UBK8	p.Pro82Leu	rs747303076	missense variant	-	NC_000005.10:g.7873488C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val83Asp	rs747894104	missense variant	-	NC_000005.10:g.7873491T>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val83Phe	rs1192394382	missense variant	-	NC_000005.10:g.7873490G>T	gnomAD
MTRR	Q9UBK8	p.Val83Ala	rs747894104	missense variant	-	NC_000005.10:g.7873491T>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp84Gly	rs1254464770	missense variant	-	NC_000005.10:g.7873494A>G	TOPMed
MTRR	Q9UBK8	p.Phe85Leu	rs769637305	missense variant	-	NC_000005.10:g.7873498C>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Ala87Thr	rs143579470	missense variant	-	NC_000005.10:g.7873502G>A	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.His88Gln	rs770540418	missense variant	-	NC_000005.10:g.7873507C>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Arg90Gln	rs759311230	missense variant	-	NC_000005.10:g.7873512G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg90Trp	rs773984668	missense variant	-	NC_000005.10:g.7873511C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Tyr91Cys	rs767247740	missense variant	-	NC_000005.10:g.7873515A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Tyr91Phe	rs767247740	missense variant	-	NC_000005.10:g.7873515A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Gly95Asp	rs1238116731	missense variant	-	NC_000005.10:g.7875258G>A	gnomAD
MTRR	Q9UBK8	p.Leu96Val	rs375323482	missense variant	-	NC_000005.10:g.7875260C>G	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr102Pro	rs762091582	missense variant	-	NC_000005.10:g.7875278A>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr102Ala	rs762091582	missense variant	-	NC_000005.10:g.7875278A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Tyr103Cys	rs773439429	missense variant	-	NC_000005.10:g.7875282A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Cys105Gly	rs1484416611	missense variant	-	NC_000005.10:g.7875287T>G	gnomAD
MTRR	Q9UBK8	p.Asn106Ser	rs763568058	missense variant	-	NC_000005.10:g.7875291A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys109Thr	rs751657876	missense variant	-	NC_000005.10:g.7875300A>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys109Arg	rs751657876	missense variant	-	NC_000005.10:g.7875300A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys109Gln	rs1181616379	missense variant	-	NC_000005.10:g.7875299A>C	gnomAD
MTRR	Q9UBK8	p.Arg114Ter	rs754990692	stop gained	-	NC_000005.10:g.7875314C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Gln116Lys	rs202110383	missense variant	-	NC_000005.10:g.7875320C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln116Lys	RCV000316476	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7875320C>A	ClinVar
MTRR	Q9UBK8	p.Ala120Val	rs753027704	missense variant	-	NC_000005.10:g.7875333C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Arg121Gln	rs201913006	missense variant	-	NC_000005.10:g.7875336G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg121Trp	rs146068484	missense variant	-	NC_000005.10:g.7875335C>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Tyr124Cys	rs200047657	missense variant	-	NC_000005.10:g.7875345A>G	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Tyr124Cys	RCV000373506	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7875345A>G	ClinVar
MTRR	Q9UBK8	p.Gly127Ala	rs377233867	missense variant	-	NC_000005.10:g.7875354G>C	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.His128Tyr	rs140035191	missense variant	-	NC_000005.10:g.7875356C>T	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.His128Asn	rs140035191	missense variant	-	NC_000005.10:g.7875356C>A	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.His128Leu	rs185235284	missense variant	-	NC_000005.10:g.7875357A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.His128Arg	rs185235284	missense variant	-	NC_000005.10:g.7875357A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.His128Arg	RCV000337918	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7875357A>G	ClinVar
MTRR	Q9UBK8	p.Ala129Thr	VAR_012839	Missense	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
MTRR	Q9UBK8	p.Asp130Gly	rs768175244	missense variant	-	NC_000005.10:g.7875363A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Cys132Ser	rs763175326	missense variant	-	NC_000005.10:g.7875369G>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Val133Leu	rs770923981	missense variant	-	NC_000005.10:g.7875371G>C	gnomAD
MTRR	Q9UBK8	p.Val133Ile	rs770923981	missense variant	-	NC_000005.10:g.7875371G>A	gnomAD
MTRR	Q9UBK8	p.Gly134Ala	rs1321252684	missense variant	-	NC_000005.10:g.7875375G>C	TOPMed
MTRR	Q9UBK8	p.Leu135Ser	rs368654030	missense variant	-	NC_000005.10:g.7877946T>C	ESP
MTRR	Q9UBK8	p.Leu135Phe	rs754157293	missense variant	-	NC_000005.10:g.7877947A>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro141Leu	rs553846662	missense variant	-	NC_000005.10:g.7877964C>T	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Ala149Val	rs142714881	missense variant	-	NC_000005.10:g.7877988C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala149Val	RCV000435077	missense variant	-	NC_000005.10:g.7877988C>T	ClinVar
MTRR	Q9UBK8	p.Ala149Pro	rs1320312931	missense variant	-	NC_000005.10:g.7877987G>C	gnomAD
MTRR	Q9UBK8	p.Leu150Phe	rs908506872	missense variant	-	NC_000005.10:g.7877990C>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys152Arg	rs750209286	missense variant	-	NC_000005.10:g.7877997A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Arg155Gly	rs556611332	missense variant	-	NC_000005.10:g.7878005A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser156Leu	rs919772858	missense variant	-	NC_000005.10:g.7878009C>T	gnomAD
MTRR	Q9UBK8	p.Ser156Ter	rs919772858	stop gained	-	NC_000005.10:g.7878009C>G	gnomAD
MTRR	Q9UBK8	p.Arg158Lys	rs150853519	missense variant	-	NC_000005.10:g.7878015G>A	ESP
MTRR	Q9UBK8	p.Gly159Glu	rs1478151197	missense variant	-	NC_000005.10:g.7878018G>A	gnomAD
MTRR	Q9UBK8	p.Glu162Asp	rs1489645588	missense variant	-	NC_000005.10:g.7878028G>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Glu162Lys	rs1411837680	missense variant	-	NC_000005.10:g.7878026G>A	gnomAD
MTRR	Q9UBK8	p.Ile163Val	rs886060804	missense variant	-	NC_000005.10:g.7878029A>G	TOPMed
MTRR	Q9UBK8	p.Ile163Val	RCV000293426	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878029A>G	ClinVar
MTRR	Q9UBK8	p.Ser164Arg	rs779803224	missense variant	-	NC_000005.10:g.7878032A>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser164Gly	rs779803224	missense variant	-	NC_000005.10:g.7878032A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser164Asn	rs1265729929	missense variant	-	NC_000005.10:g.7878033G>A	TOPMed
MTRR	Q9UBK8	p.Ala166Val	rs1299901188	missense variant	-	NC_000005.10:g.7878039C>T	gnomAD
MTRR	Q9UBK8	p.Ala166Thr	rs114253881	missense variant	-	NC_000005.10:g.7878038G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala166Ser	rs114253881	missense variant	-	NC_000005.10:g.7878038G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu167Phe	rs769406733	missense variant	-	NC_000005.10:g.7878041C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro168Leu	rs757635349	missense variant	-	NC_000005.10:g.7878045C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro168Ser	rs1156730016	missense variant	-	NC_000005.10:g.7878044C>T	gnomAD
MTRR	Q9UBK8	p.Val169Met	rs147742177	missense variant	-	NC_000005.10:g.7878047G>A	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val169Met	RCV000350585	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878047G>A	ClinVar
MTRR	Q9UBK8	p.Ala170Ser	rs141053952	missense variant	-	NC_000005.10:g.7878050G>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala170Thr	rs141053952	missense variant	-	NC_000005.10:g.7878050G>A	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser174Phe	rs1186905406	missense variant	-	NC_000005.10:g.7878063C>T	gnomAD
MTRR	Q9UBK8	p.Ser175Leu	rs1532268	missense variant	-	NC_000005.10:g.7878066C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser175Leu	rs1532268	missense variant	-	NC_000005.10:g.7878066C>T	UniProt,dbSNP
MTRR	Q9UBK8	p.Ser175Leu	VAR_034595	missense variant	-	NC_000005.10:g.7878066C>T	UniProt
MTRR	Q9UBK8	p.Ser175Leu	RCV000144927	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000005.10:g.7878066C>T	ClinVar
MTRR	Q9UBK8	p.Arg176Thr	rs1182297284	missense variant	-	NC_000005.10:g.7878069G>C	gnomAD
MTRR	Q9UBK8	p.Thr177Ala	rs773160237	missense variant	-	NC_000005.10:g.7878071A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Asp178Glu	rs1417585228	missense variant	-	NC_000005.10:g.7878076C>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu179Val	rs762774379	missense variant	-	NC_000005.10:g.7878077C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Val180Leu	rs143978300	missense variant	-	NC_000005.10:g.7878080G>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val180Leu	rs143978300	missense variant	-	NC_000005.10:g.7878080G>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val180Met	rs143978300	missense variant	-	NC_000005.10:g.7878080G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys181Arg	rs996966324	missense variant	-	NC_000005.10:g.7878084A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.His186Arg	rs1448318571	missense variant	-	NC_000005.10:g.7878099A>G	gnomAD
MTRR	Q9UBK8	p.Ile187Val	rs752182014	missense variant	-	NC_000005.10:g.7878101A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Glu188Asp	rs1376668525	missense variant	-	NC_000005.10:g.7878106A>C	gnomAD
MTRR	Q9UBK8	p.Gln190His	rs755787285	missense variant	-	NC_000005.10:g.7878112A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Glu192Asp	rs758631703	missense variant	-	NC_000005.10:g.7878118G>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Glu192Lys	rs143058455	missense variant	-	NC_000005.10:g.7878116G>A	ESP
MTRR	Q9UBK8	p.Arg195Lys	rs747535153	missense variant	-	NC_000005.10:g.7878126G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Arg195Ser	rs769172296	missense variant	-	NC_000005.10:g.7878127A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Phe196Val	rs1211098985	missense variant	-	NC_000005.10:g.7878128T>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Phe196Leu	rs1211098985	missense variant	-	NC_000005.10:g.7878128T>C	TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp197His	rs748186027	missense variant	-	NC_000005.10:g.7878131G>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp197Asn	rs748186027	missense variant	-	NC_000005.10:g.7878131G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser199Ter	rs748533060	stop gained	-	NC_000005.10:g.7878138C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Gly200Glu	rs1477648506	missense variant	-	NC_000005.10:g.7878141G>A	gnomAD
MTRR	Q9UBK8	p.Arg201Gly	rs766155854	missense variant	-	NC_000005.10:g.7878143A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Arg201Lys	rs774166627	missense variant	-	NC_000005.10:g.7878144G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys202Asn	rs368030155	missense variant	-	NC_000005.10:g.7878148G>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Asp203Tyr	RCV000757494	missense variant	-	NC_000005.10:g.7878149G>T	ClinVar
MTRR	Q9UBK8	p.Ser204Phe	rs1330292970	missense variant	-	NC_000005.10:g.7878153C>T	gnomAD
MTRR	Q9UBK8	p.Glu205Val	rs1445083355	missense variant	-	NC_000005.10:g.7878156A>T	gnomAD
MTRR	Q9UBK8	p.Val206Ile	rs752235169	missense variant	-	NC_000005.10:g.7878158G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Ser214Asn	rs753545582	missense variant	-	NC_000005.10:g.7878183G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Ser214Arg	rs756928383	missense variant	-	NC_000005.10:g.7878184C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Asn215His	rs151170495	missense variant	-	NC_000005.10:g.7878185A>C	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln216Lys	rs747373546	missense variant	-	NC_000005.10:g.7878188C>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser217Cys	rs781748543	missense variant	-	NC_000005.10:g.7878192C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Ser217Phe	rs781748543	missense variant	-	NC_000005.10:g.7878192C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Ser217Pro	rs115741769	missense variant	-	NC_000005.10:g.7878191T>C	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Asn218Asp	rs1450756143	missense variant	-	NC_000005.10:g.7878194A>G	gnomAD
MTRR	Q9UBK8	p.Asn218Lys	rs770060665	missense variant	-	NC_000005.10:g.7878196T>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asn218Ser	rs541734980	missense variant	-	NC_000005.10:g.7878195A>G	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Val219Ala	rs1478098305	missense variant	-	NC_000005.10:g.7878198T>C	gnomAD
MTRR	Q9UBK8	p.Ile221Val	rs372359132	missense variant	-	NC_000005.10:g.7878203A>G	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Glu225Lys	rs1439396842	missense variant	-	NC_000005.10:g.7878215G>A	TOPMed
MTRR	Q9UBK8	p.Leu228Phe	rs1170879434	missense variant	-	NC_000005.10:g.7878224C>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu228Pro	rs1221143878	missense variant	-	NC_000005.10:g.7878225T>C	gnomAD
MTRR	Q9UBK8	p.Thr229Ser	rs1397666505	missense variant	-	NC_000005.10:g.7878228C>G	gnomAD
MTRR	Q9UBK8	p.Arg230Gly	rs771164103	missense variant	-	NC_000005.10:g.7878230C>G	ExAC,TOPMed
MTRR	Q9UBK8	p.Arg230His	rs759336378	missense variant	-	NC_000005.10:g.7878231G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg230Cys	rs771164103	missense variant	-	NC_000005.10:g.7878230C>T	ExAC,TOPMed
MTRR	Q9UBK8	p.Arg230His	RCV000310859	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878231G>A	ClinVar
MTRR	Q9UBK8	p.Ser231Leu	rs201557658	missense variant	-	NC_000005.10:g.7878234C>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val232Ile	rs1377188317	missense variant	-	NC_000005.10:g.7878236G>A	TOPMed
MTRR	Q9UBK8	p.Pro233Ser	rs760592314	missense variant	-	NC_000005.10:g.7878239C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro233Thr	rs760592314	missense variant	-	NC_000005.10:g.7878239C>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro234Ser	rs1441545979	missense variant	-	NC_000005.10:g.7878242C>T	TOPMed
MTRR	Q9UBK8	p.Pro234Gln	rs763658626	missense variant	-	NC_000005.10:g.7878243C>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu235Phe	rs1238722351	missense variant	-	NC_000005.10:g.7878245C>T	TOPMed
MTRR	Q9UBK8	p.Ser236Leu	rs765634416	missense variant	-	NC_000005.10:g.7878249C>T	TOPMed
MTRR	Q9UBK8	p.Gln237Lys	rs1355405966	missense variant	-	NC_000005.10:g.7878251C>A	gnomAD
MTRR	Q9UBK8	p.Ser239Thr	rs1280421407	missense variant	-	NC_000005.10:g.7878257T>A	TOPMed
MTRR	Q9UBK8	p.Ser239Phe	rs371860776	missense variant	-	NC_000005.10:g.7878258C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro243Ala	rs1452107142	missense variant	-	NC_000005.10:g.7878269C>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly244Ala	rs764892747	missense variant	-	NC_000005.10:g.7878273G>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Gly244Asp	rs764892747	missense variant	-	NC_000005.10:g.7878273G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu245Ile	rs781683793	missense variant	-	NC_000005.10:g.7878275T>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu245Val	rs781683793	missense variant	-	NC_000005.10:g.7878275T>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro247Ser	rs114053717	missense variant	-	NC_000005.10:g.7878281C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro247Ser	RCV000358385	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878281C>T	ClinVar
MTRR	Q9UBK8	p.Leu250Ter	rs1161818977	stop gained	-	NC_000005.10:g.7878291T>A	gnomAD
MTRR	Q9UBK8	p.Gln251Arg	rs771089950	missense variant	-	NC_000005.10:g.7878294A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Val252Leu	rs779125839	missense variant	-	NC_000005.10:g.7878296G>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu254Met	rs945965809	missense variant	-	NC_000005.10:g.7878302C>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln255Pro	rs1336533805	missense variant	-	NC_000005.10:g.7878306A>C	TOPMed
MTRR	Q9UBK8	p.Gln255Ter	rs1353165398	stop gained	-	NC_000005.10:g.7878305C>T	TOPMed
MTRR	Q9UBK8	p.Glu256Ter	rs375908206	stop gained	-	NC_000005.10:g.7878308G>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser257Thr	rs2303080	missense variant	-	NC_000005.10:g.7878311T>A	UniProt,dbSNP
MTRR	Q9UBK8	p.Ser257Thr	VAR_034596	missense variant	-	NC_000005.10:g.7878311T>A	UniProt
MTRR	Q9UBK8	p.Ser257Thr	rs2303080	missense variant	-	NC_000005.10:g.7878311T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser257Cys	rs1242426539	missense variant	-	NC_000005.10:g.7878312C>G	gnomAD
MTRR	Q9UBK8	p.Ser257Thr	RCV000266246	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7878311T>A	ClinVar
MTRR	Q9UBK8	p.Leu258Pro	rs369113367	missense variant	-	NC_000005.10:g.7878315T>C	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu258Phe	rs904366915	missense variant	-	NC_000005.10:g.7878314C>T	TOPMed
MTRR	Q9UBK8	p.Gly259Asp	rs760645361	missense variant	-	NC_000005.10:g.7878318G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Glu262Gly	rs779871392	missense variant	-	NC_000005.10:g.7883159A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Gln264Pro	rs1256361353	missense variant	-	NC_000005.10:g.7883165A>C	gnomAD
MTRR	Q9UBK8	p.Val265Gly	rs768609406	missense variant	-	NC_000005.10:g.7883168T>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Val265Ala	rs768609406	missense variant	-	NC_000005.10:g.7883168T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro272Gln	rs747621308	missense variant	-	NC_000005.10:g.7883189C>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile278Val	rs1377146830	missense variant	-	NC_000005.10:g.7883206A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile278Val	RCV000691198	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7883206A>G	ClinVar
MTRR	Q9UBK8	p.Thr286Met	rs79430644	missense variant	-	NC_000005.10:g.7883231C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asn287Ser	rs750009895	missense variant	-	NC_000005.10:g.7883234A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Asn287Ile	rs750009895	missense variant	-	NC_000005.10:g.7883234A>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp288Gly	rs766083570	missense variant	-	NC_000005.10:g.7883237A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala289Thr	rs776031136	missense variant	-	NC_000005.10:g.7883239G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile290Thr	rs144899305	missense variant	-	NC_000005.10:g.7883243T>C	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile290Thr	RCV000304993	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7883243T>C	ClinVar
MTRR	Q9UBK8	p.Ile290Thr	RCV000642243	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7883243T>C	ClinVar
MTRR	Q9UBK8	p.Ile290Met	rs764523081	missense variant	-	NC_000005.10:g.7883244A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys291Gln	rs138790346	missense variant	-	NC_000005.10:g.7883245A>C	ESP,TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr292Ala	rs376109940	missense variant	-	NC_000005.10:g.7883248A>G	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr293Ile	rs115374408	missense variant	-	NC_000005.10:g.7883252C>T	1000Genomes
MTRR	Q9UBK8	p.Glu297Lys	rs750478327	missense variant	-	NC_000005.10:g.7883263G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu298Ser	rs1178318986	missense variant	-	NC_000005.10:g.7883267T>C	gnomAD
MTRR	Q9UBK8	p.Leu298Val	rs758638445	missense variant	-	NC_000005.10:g.7883266T>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Asp299Asn	rs1444323611	missense variant	-	NC_000005.10:g.7883269G>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile300Met	rs1267218622	missense variant	-	NC_000005.10:g.7883274T>G	gnomAD
MTRR	Q9UBK8	p.Ile300Thr	rs1180408744	missense variant	-	NC_000005.10:g.7883273T>C	TOPMed
MTRR	Q9UBK8	p.Ser301Leu	rs780207562	missense variant	-	NC_000005.10:g.7883276C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Thr303Ile	rs781093877	missense variant	-	NC_000005.10:g.7885705C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Asp304Gly	rs756111796	missense variant	-	NC_000005.10:g.7885708A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Tyr307Cys	rs112125408	missense variant	-	NC_000005.10:g.7885717A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Tyr307His	rs777788391	missense variant	-	NC_000005.10:g.7885716T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Gln308Glu	rs770624642	missense variant	-	NC_000005.10:g.7885719C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Gln308Leu	rs778560380	missense variant	-	NC_000005.10:g.7885720A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro309Thr	rs1225399282	missense variant	-	NC_000005.10:g.7885722C>A	gnomAD
MTRR	Q9UBK8	p.Gly310Arg	rs1293089122	missense variant	-	NC_000005.10:g.7885725G>A	gnomAD
MTRR	Q9UBK8	p.Gly310Ala	rs745556018	missense variant	-	NC_000005.10:g.7885726G>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Ala312Asp	rs771599060	missense variant	-	NC_000005.10:g.7885732C>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala312Gly	rs771599060	missense variant	-	NC_000005.10:g.7885732C>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val315Met	rs773646971	missense variant	-	NC_000005.10:g.7885740G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile316Phe	rs763433943	missense variant	-	NC_000005.10:g.7885743A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Cys317Phe	rs766488995	missense variant	-	NC_000005.10:g.7885747G>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro318Ala	rs375421492	missense variant	-	NC_000005.10:g.7885749C>G	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro318Ser	rs375421492	missense variant	-	NC_000005.10:g.7885749C>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asn319His	rs1417372870	missense variant	-	NC_000005.10:g.7885752A>C	TOPMed,gnomAD
MTRR	Q9UBK8	p.Asn319Ser	rs1027111731	missense variant	-	NC_000005.10:g.7885753A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser320Gly	rs199762141	missense variant	-	NC_000005.10:g.7885755A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val324Ile	rs1446857825	missense variant	-	NC_000005.10:g.7885767G>A	gnomAD
MTRR	Q9UBK8	p.Gln325Lys	rs138098668	missense variant	-	NC_000005.10:g.7885770C>A	1000Genomes,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg330Ser	rs1216126515	missense variant	-	NC_000005.10:g.7885787A>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu331Arg	rs755809077	missense variant	-	NC_000005.10:g.7885789T>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu331Pro	rs755809077	missense variant	-	NC_000005.10:g.7885789T>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu333Phe	rs10064631	missense variant	-	NC_000005.10:g.7885794C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu333Ile	rs10064631	missense variant	-	NC_000005.10:g.7885794C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu333Val	rs10064631	missense variant	-	NC_000005.10:g.7885794C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu333Val	RCV000259869	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7885794C>G	ClinVar
MTRR	Q9UBK8	p.Glu334Asp	rs1484312888	missense variant	-	NC_000005.10:g.7885799A>C	TOPMed
MTRR	Q9UBK8	p.Lys336Ter	rs1057521495	stop gained	-	NC_000005.10:g.7885803A>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys336Glu	RCV000441913	missense variant	-	NC_000005.10:g.7885803A>G	ClinVar
MTRR	Q9UBK8	p.Lys336Glu	rs1057521495	missense variant	-	NC_000005.10:g.7885803A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg337Ter	rs745313688	stop gained	-	NC_000005.10:g.7885806A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.His339Arg	rs771787194	missense variant	-	NC_000005.10:g.7885813A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Cys340Gly	rs1183944927	missense variant	-	NC_000005.10:g.7885815T>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Val341Ile	rs74790259	missense variant	-	NC_000005.10:g.7885818G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys344Ter	rs770198095	stop gained	-	NC_000005.10:g.7885827A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile345Met	rs140944718	missense variant	-	NC_000005.10:g.7885832A>G	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr349Ser	rs763503458	missense variant	-	NC_000005.10:g.7885842A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys350Arg	rs162036	missense variant	-	NC_000005.10:g.7885846A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys350Arg	rs162036	missense variant	-	NC_000005.10:g.7885846A>G	UniProt,dbSNP
MTRR	Q9UBK8	p.Lys350Arg	VAR_034597	missense variant	-	NC_000005.10:g.7885846A>G	UniProt
MTRR	Q9UBK8	p.Lys350Arg	RCV000144925	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000005.10:g.7885846A>G	ClinVar
MTRR	Q9UBK8	p.Lys352Asn	rs757997490	missense variant	-	NC_000005.10:g.7885853A>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly353Glu	rs1192521826	missense variant	-	NC_000005.10:g.7886615G>A	gnomAD
MTRR	Q9UBK8	p.Ala354Thr	rs775609322	missense variant	-	NC_000005.10:g.7886617G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr355Ala	rs375332745	missense variant	-	NC_000005.10:g.7886620A>G	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.Thr355Pro	rs375332745	missense variant	-	NC_000005.10:g.7886620A>C	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.Pro357Thr	rs764360570	missense variant	-	NC_000005.10:g.7886626C>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Gln358Arg	rs776598893	missense variant	-	NC_000005.10:g.7886630A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.His359Tyr	rs1405292334	missense variant	-	NC_000005.10:g.7886632C>T	gnomAD
MTRR	Q9UBK8	p.His359Arg	rs761632409	missense variant	-	NC_000005.10:g.7886633A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile360Val	rs1367567348	missense variant	-	NC_000005.10:g.7886635A>G	gnomAD
MTRR	Q9UBK8	p.Ala362Val	rs765276021	missense variant	-	NC_000005.10:g.7886642C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala362Thr	rs1277860671	missense variant	-	NC_000005.10:g.7886641G>A	gnomAD
MTRR	Q9UBK8	p.Gly363Glu	rs758349872	missense variant	-	NC_000005.10:g.7886645G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Gly363Arg	rs1270557531	missense variant	-	NC_000005.10:g.7886644G>C	gnomAD
MTRR	Q9UBK8	p.Cys364Phe	rs1208011938	missense variant	-	NC_000005.10:g.7886648G>T	gnomAD
MTRR	Q9UBK8	p.Ser365Tyr	rs1293804430	missense variant	-	NC_000005.10:g.7886651C>A	gnomAD
MTRR	Q9UBK8	p.Ile369Val	rs765844770	missense variant	-	NC_000005.10:g.7886662A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Trp372Arg	rs1011595580	missense variant	-	NC_000005.10:g.7886671T>C	TOPMed
MTRR	Q9UBK8	p.Trp372Cys	rs1429920725	missense variant	-	NC_000005.10:g.7886673G>T	gnomAD
MTRR	Q9UBK8	p.Cys373Arg	rs751034628	missense variant	-	NC_000005.10:g.7886674T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Cys373Tyr	rs1374004546	missense variant	-	NC_000005.10:g.7886675G>A	gnomAD
MTRR	Q9UBK8	p.Cys373Ser	rs751034628	missense variant	-	NC_000005.10:g.7886674T>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu374Phe	rs372106115	missense variant	-	NC_000005.10:g.7886677C>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Glu375Gln	rs772547714	missense variant	-	NC_000005.10:g.7886680G>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Glu375Gly	rs1235454495	missense variant	-	NC_000005.10:g.7886681A>G	TOPMed
MTRR	Q9UBK8	p.Glu375Ter	rs772547714	stop gained	-	NC_000005.10:g.7886680G>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile376Thr	rs757677988	missense variant	-	NC_000005.10:g.7886684T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile376Met	rs1382796636	missense variant	-	NC_000005.10:g.7886685C>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg377Gln	rs559714440	missense variant	-	NC_000005.10:g.7886687G>A	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Arg377Ter	rs147960130	stop gained	-	NC_000005.10:g.7886686C>T	ESP,TOPMed
MTRR	Q9UBK8	p.Ala378Thr	rs1393029352	missense variant	-	NC_000005.10:g.7886689G>A	TOPMed
MTRR	Q9UBK8	p.Ile379Val	rs746404785	missense variant	-	NC_000005.10:g.7886692A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile379Ser	rs1243456483	missense variant	-	NC_000005.10:g.7886693T>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro380Leu	rs1360048756	missense variant	-	NC_000005.10:g.7886696C>T	gnomAD
MTRR	Q9UBK8	p.Pro380Ser	rs886060806	missense variant	-	NC_000005.10:g.7886695C>T	gnomAD
MTRR	Q9UBK8	p.Pro380Thr	rs886060806	missense variant	-	NC_000005.10:g.7886695C>A	gnomAD
MTRR	Q9UBK8	p.Pro380Thr	RCV000263413	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7886695C>A	ClinVar
MTRR	Q9UBK8	p.Lys381Glu	rs1352383887	missense variant	-	NC_000005.10:g.7886698A>G	TOPMed
MTRR	Q9UBK8	p.Arg386Ter	rs1421007019	stop gained	-	NC_000005.10:g.7889104C>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg386Gln	rs368943570	missense variant	-	NC_000005.10:g.7889105G>A	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu388Phe	rs770791399	missense variant	-	NC_000005.10:g.7889110C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Val389Met	rs774333382	missense variant	-	NC_000005.10:g.7889113G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Val389Met	RCV000661941	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7889113G>A	ClinVar
MTRR	Q9UBK8	p.Asp390Gly	rs1037417932	missense variant	-	NC_000005.10:g.7889117A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Tyr391Cys	rs1406568412	missense variant	-	NC_000005.10:g.7889120A>G	gnomAD
MTRR	Q9UBK8	p.Thr392Ser	rs759466209	missense variant	-	NC_000005.10:g.7889123C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Ser393Gly	rs1240870498	missense variant	-	NC_000005.10:g.7889125A>G	TOPMed
MTRR	Q9UBK8	p.Asp394Glu	rs149678769	missense variant	-	NC_000005.10:g.7889130C>G	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp394Glu	RCV000816569	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7889130C>G	ClinVar
MTRR	Q9UBK8	p.Asp394Glu	RCV000387179	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7889130C>G	ClinVar
MTRR	Q9UBK8	p.Ser395Cys	rs752183695	missense variant	-	NC_000005.10:g.7889131A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Ser395Asn	rs760268961	missense variant	-	NC_000005.10:g.7889132G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Arg399Leu	rs374979929	missense variant	-	NC_000005.10:g.7889144G>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg399His	rs374979929	missense variant	-	NC_000005.10:g.7889144G>A	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg399Cys	rs531325011	missense variant	-	NC_000005.10:g.7889143C>T	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Arg400Gly	rs1263334440	missense variant	-	NC_000005.10:g.7889146A>G	gnomAD
MTRR	Q9UBK8	p.Cys405Arg	VAR_012841	Missense	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
MTRR	Q9UBK8	p.Ser406Gly	rs1239051004	missense variant	-	NC_000005.10:g.7889164A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln408Arg	rs1292929074	missense variant	-	NC_000005.10:g.7889171A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp412Asn	rs1178212573	missense variant	-	NC_000005.10:g.7889182G>A	gnomAD
MTRR	Q9UBK8	p.Tyr413Cys	rs1166012101	missense variant	-	NC_000005.10:g.7889186A>G	TOPMed
MTRR	Q9UBK8	p.Tyr413His	rs1268284059	missense variant	-	NC_000005.10:g.7889185T>C	gnomAD
MTRR	Q9UBK8	p.Ser414Gly	rs1426061156	missense variant	-	NC_000005.10:g.7889188A>G	TOPMed
MTRR	Q9UBK8	p.Arg415Leu	rs748202026	missense variant	-	NC_000005.10:g.7889192G>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg415His	rs748202026	missense variant	-	NC_000005.10:g.7889192G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg415Cys	rs2287780	missense variant	-	NC_000005.10:g.7889191C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg415Cys	rs2287780	missense variant	-	NC_000005.10:g.7889191C>T	UniProt,dbSNP
MTRR	Q9UBK8	p.Arg415Cys	VAR_034598	missense variant	-	NC_000005.10:g.7889191C>T	UniProt
MTRR	Q9UBK8	p.Arg415Cys	RCV000126872	missense variant	-	NC_000005.10:g.7889191C>T	ClinVar
MTRR	Q9UBK8	p.Phe416Leu	rs769915505	missense variant	-	NC_000005.10:g.7889194T>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Phe416Val	rs769915505	missense variant	-	NC_000005.10:g.7889194T>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Phe416Leu	rs886060807	missense variant	-	NC_000005.10:g.7889196T>A	TOPMed
MTRR	Q9UBK8	p.Phe416Leu	RCV000642242	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7889194T>C	ClinVar
MTRR	Q9UBK8	p.Arg418Gln	rs749461781	missense variant	-	NC_000005.10:g.7889201G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg418Ter	rs777997657	stop gained	-	NC_000005.10:g.7889200C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg418Pro	rs749461781	missense variant	-	NC_000005.10:g.7889201G>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp419Asn	rs770826753	missense variant	-	NC_000005.10:g.7889203G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Cys421Tyr	rs759521220	missense variant	-	NC_000005.10:g.7889210G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Cys421Ter	rs1283581615	stop gained	-	NC_000005.10:g.7889211T>A	gnomAD
MTRR	Q9UBK8	p.Ala422Ser	rs1339430227	missense variant	-	NC_000005.10:g.7889212G>T	gnomAD
MTRR	Q9UBK8	p.Ala422Val	rs771949830	missense variant	-	NC_000005.10:g.7889213C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Ala422Gly	rs771949830	missense variant	-	NC_000005.10:g.7889213C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Cys423Trp	rs775011169	missense variant	-	NC_000005.10:g.7889217C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu425Ser	rs760163475	missense variant	-	NC_000005.10:g.7889222T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu427Val	rs763667405	missense variant	-	NC_000005.10:g.7889227C>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu427Ile	rs763667405	missense variant	-	NC_000005.10:g.7889227C>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu428Phe	rs1224801855	missense variant	-	NC_000005.10:g.7889230C>T	gnomAD
MTRR	Q9UBK8	p.Ala430Ser	rs564953226	missense variant	-	NC_000005.10:g.7889236G>T	1000Genomes,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala430Pro	rs564953226	missense variant	-	NC_000005.10:g.7889236G>C	1000Genomes,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala430Thr	rs564953226	missense variant	-	NC_000005.10:g.7889236G>A	1000Genomes,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Phe431Leu	rs766885971	missense variant	-	NC_000005.10:g.7889241C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro432Leu	rs751947278	missense variant	-	NC_000005.10:g.7889243C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro432Ser	rs976731910	missense variant	-	NC_000005.10:g.7889242C>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser439Gly	rs752734980	missense variant	-	NC_000005.10:g.7889263A>G	ExAC
MTRR	Q9UBK8	p.Leu440Phe	rs1303223912	missense variant	-	NC_000005.10:g.7889266C>T	gnomAD
MTRR	Q9UBK8	p.Leu441Gln	rs777714107	missense variant	-	NC_000005.10:g.7889270T>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu442Phe	rs1428227027	missense variant	-	NC_000005.10:g.7889272C>T	gnomAD
MTRR	Q9UBK8	p.Glu443Lys	rs1364559668	missense variant	-	NC_000005.10:g.7889275G>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.His444Gln	rs1203197024	missense variant	-	NC_000005.10:g.7891376T>G	gnomAD
MTRR	Q9UBK8	p.Leu445His	rs768451288	missense variant	-	NC_000005.10:g.7891378T>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys447Asn	rs776224275	missense variant	-	NC_000005.10:g.7891385A>T	ExAC
MTRR	Q9UBK8	p.Lys447Glu	rs1440404360	missense variant	-	NC_000005.10:g.7891383A>G	TOPMed
MTRR	Q9UBK8	p.Leu448Arg	rs1240199178	missense variant	-	NC_000005.10:g.7891387T>G	TOPMed
MTRR	Q9UBK8	p.Gln449His	rs747568149	missense variant	-	NC_000005.10:g.7891391A>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln449Pro	rs1462446372	missense variant	-	NC_000005.10:g.7891390A>C	TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro450Arg	rs16879334	missense variant	-	NC_000005.10:g.7891393C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro450Ser	rs769586426	missense variant	-	NC_000005.10:g.7891392C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro450Arg	RCV000382140	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7891393C>G	ClinVar
MTRR	Q9UBK8	p.Pro452Gln	rs1407994766	missense variant	-	NC_000005.10:g.7891399C>A	gnomAD
MTRR	Q9UBK8	p.Tyr453His	rs762694475	missense variant	-	NC_000005.10:g.7891401T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Ser454Leu	rs137853062	missense variant	-	NC_000005.10:g.7891405C>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Ser454Leu	RCV000007449	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7891405C>T	ClinVar
MTRR	Q9UBK8	p.Ser454Leu	RCV000757493	missense variant	-	NC_000005.10:g.7891405C>T	ClinVar
MTRR	Q9UBK8	p.Cys455Ser	rs764469824	missense variant	-	NC_000005.10:g.7891408G>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Cys455Ser	rs761267473	missense variant	-	NC_000005.10:g.7891407T>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Cys455Tyr	rs764469824	missense variant	-	NC_000005.10:g.7891408G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala456Val	rs761821020	missense variant	-	NC_000005.10:g.7891411C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala456Thr	rs753958946	missense variant	-	NC_000005.10:g.7891410G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu460Val	rs1270679425	missense variant	-	NC_000005.10:g.7892734T>G	gnomAD
MTRR	Q9UBK8	p.Leu460Ter	RCV000625774	nonsense	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7892735T>G	ClinVar
MTRR	Q9UBK8	p.Leu460Ter	rs1554006017	stop gained	-	NC_000005.10:g.7892735T>G	-
MTRR	Q9UBK8	p.Gly464Glu	rs1372892119	missense variant	-	NC_000005.10:g.7892747G>A	gnomAD
MTRR	Q9UBK8	p.Gly464Arg	rs372150634	missense variant	-	NC_000005.10:g.7892746G>A	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.Gly464Ter	rs372150634	stop gained	-	NC_000005.10:g.7892746G>T	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.Lys465Arg	rs375483975	missense variant	-	NC_000005.10:g.7892750A>G	ESP
MTRR	Q9UBK8	p.Lys465Glu	rs754790059	missense variant	-	NC_000005.10:g.7892749A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.His467Tyr	rs781040363	missense variant	-	NC_000005.10:g.7892755C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.His467Arg	rs752726008	missense variant	-	NC_000005.10:g.7892756A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Val469Ala	rs1282505510	missense variant	-	NC_000005.10:g.7892762T>C	TOPMed
MTRR	Q9UBK8	p.Asn471Ser	rs915446132	missense variant	-	NC_000005.10:g.7892768A>G	TOPMed
MTRR	Q9UBK8	p.Ile472Phe	rs1347341588	missense variant	-	NC_000005.10:g.7892770A>T	TOPMed
MTRR	Q9UBK8	p.Ile472Thr	rs756103128	missense variant	-	NC_000005.10:g.7892771T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Val473Ala	rs777447397	missense variant	-	NC_000005.10:g.7892774T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Phe475Ile	rs1387591492	missense variant	-	NC_000005.10:g.7892779T>A	gnomAD
MTRR	Q9UBK8	p.Phe475Ser	rs748768368	missense variant	-	NC_000005.10:g.7892780T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu476Arg	rs1324508393	missense variant	-	NC_000005.10:g.7892783T>G	gnomAD
MTRR	Q9UBK8	p.Thr478Ile	rs1358640424	missense variant	-	NC_000005.10:g.7892789C>T	gnomAD
MTRR	Q9UBK8	p.Thr478Ser	rs1358640424	missense variant	-	NC_000005.10:g.7892789C>G	gnomAD
MTRR	Q9UBK8	p.Thr478Pro	rs770622496	missense variant	-	NC_000005.10:g.7892788A>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Ala479Thr	rs1243592502	missense variant	-	NC_000005.10:g.7892791G>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr480Ala	rs1013781615	missense variant	-	NC_000005.10:g.7892794A>G	TOPMed
MTRR	Q9UBK8	p.Thr481Ile	rs778373384	missense variant	-	NC_000005.10:g.7892798C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Glu482Val	rs745518958	missense variant	-	NC_000005.10:g.7892801A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Val483Phe	rs1259186284	missense variant	-	NC_000005.10:g.7892803G>T	gnomAD
MTRR	Q9UBK8	p.Arg485Gln	rs146475928	missense variant	-	NC_000005.10:g.7892810G>A	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly487Arg	rs137853061	missense variant	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)	NC_000005.10:g.7892815G>A	UniProt,dbSNP
MTRR	Q9UBK8	p.Gly487Arg	VAR_012842	missense variant	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE)	NC_000005.10:g.7892815G>A	UniProt
MTRR	Q9UBK8	p.Gly487Arg	rs137853061	missense variant	-	NC_000005.10:g.7892815G>A	TOPMed
MTRR	Q9UBK8	p.Gly487Glu	rs1195759319	missense variant	-	NC_000005.10:g.7892816G>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly487Arg	RCV000210727	missense variant	Inborn genetic diseases	NC_000005.10:g.7892815G>A	ClinVar
MTRR	Q9UBK8	p.Gly487Arg	RCV000007446	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7892815G>A	ClinVar
MTRR	Q9UBK8	p.Val488Leu	rs777022518	missense variant	-	NC_000005.10:g.7892818G>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Cys489Arg	rs770232997	missense variant	-	NC_000005.10:g.7892821T>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Thr490Ala	rs41283145	missense variant	-	NC_000005.10:g.7892824A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Thr490Ala	RCV000642245	missense variant	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type (HMAE)	NC_000005.10:g.7892824A>G	ClinVar
MTRR	Q9UBK8	p.Thr490Ala	RCV000506890	missense variant	-	NC_000005.10:g.7892824A>G	ClinVar
MTRR	Q9UBK8	p.Gly491Val	rs148284479	missense variant	-	NC_000005.10:g.7892828G>T	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly491Asp	rs148284479	missense variant	-	NC_000005.10:g.7892828G>A	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly491Asp	RCV000289989	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7892828G>A	ClinVar
MTRR	Q9UBK8	p.Ala498Val	rs1040395177	missense variant	-	NC_000005.10:g.7892849C>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Val500Ile	rs766470905	missense variant	-	NC_000005.10:g.7892854G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile505Met	rs201376855	missense variant	-	NC_000005.10:g.7892871A>G	1000Genomes,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile505Leu	rs774507224	missense variant	-	NC_000005.10:g.7892869A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.His506Leu	rs572087295	missense variant	-	NC_000005.10:g.7892873A>T	gnomAD
MTRR	Q9UBK8	p.His506Arg	rs572087295	missense variant	-	NC_000005.10:g.7892873A>G	gnomAD
MTRR	Q9UBK8	p.Ala507Val	rs752491169	missense variant	-	NC_000005.10:g.7892876C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.His509Arg	rs923228298	missense variant	-	NC_000005.10:g.7892882A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Glu510Ala	rs1450089061	missense variant	-	NC_000005.10:g.7892885A>C	TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp511Glu	rs1269324233	missense variant	-	NC_000005.10:g.7892889C>G	TOPMed
MTRR	Q9UBK8	p.Gly513Arg	rs150411351	missense variant	-	NC_000005.10:g.7892893G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly513Val	rs753414263	missense variant	-	NC_000005.10:g.7892894G>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys514Arg	rs1025977780	missense variant	-	NC_000005.10:g.7892897A>G	TOPMed
MTRR	Q9UBK8	p.Ala515Val	RCV000432196	missense variant	-	NC_000005.10:g.7892900C>T	ClinVar
MTRR	Q9UBK8	p.Ala515Val	rs16879355	missense variant	-	NC_000005.10:g.7892900C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala517Thr	rs149581788	missense variant	-	NC_000005.10:g.7892905G>A	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala517Pro	rs149581788	missense variant	-	NC_000005.10:g.7892905G>C	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro518Ser	rs758047403	missense variant	-	NC_000005.10:g.7892908C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile520Val	rs763970135	missense variant	-	NC_000005.10:g.7895734A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Ser521Phe	rs753890281	missense variant	-	NC_000005.10:g.7895738C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile522Val	rs374903302	missense variant	-	NC_000005.10:g.7895740A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro524Ser	rs1409884223	missense variant	-	NC_000005.10:g.7895746C>T	gnomAD
MTRR	Q9UBK8	p.Arg525Leu	rs1343250131	missense variant	-	NC_000005.10:g.7895750G>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg525Ter	rs147277149	stop gained	-	NC_000005.10:g.7895749C>T	ESP,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg525Pro	rs1343250131	missense variant	-	NC_000005.10:g.7895750G>C	TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg525Gln	rs1343250131	missense variant	-	NC_000005.10:g.7895750G>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg525Ter	RCV000254795	nonsense	-	NC_000005.10:g.7895749C>T	ClinVar
MTRR	Q9UBK8	p.Thr526Ala	rs758018238	missense variant	-	NC_000005.10:g.7895752A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Asn528Asp	rs375420169	missense variant	-	NC_000005.10:g.7895758A>G	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.Asn528Thr	rs543608145	missense variant	-	NC_000005.10:g.7895759A>C	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Asn528Ser	rs543608145	missense variant	-	NC_000005.10:g.7895759A>G	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Phe530Ser	rs926136845	missense variant	-	NC_000005.10:g.7895765T>C	TOPMed
MTRR	Q9UBK8	p.His531Tyr	rs767321681	missense variant	-	NC_000005.10:g.7895767C>T	ExAC
MTRR	Q9UBK8	p.Pro533Ser	rs771421325	missense variant	-	NC_000005.10:g.7895773C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp535Asn	rs778894593	missense variant	-	NC_000005.10:g.7895779G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro539Thr	rs772440734	missense variant	-	NC_000005.10:g.7895791C>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro539Ser	rs772440734	missense variant	-	NC_000005.10:g.7895791C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Pro539Leu	rs775914890	missense variant	-	NC_000005.10:g.7895792C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile541Val	rs752471011	missense variant	-	NC_000005.10:g.7895797A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile541Leu	rs752471011	missense variant	-	NC_000005.10:g.7895797A>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Met542Leu	rs768608989	missense variant	-	NC_000005.10:g.7895800A>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val543Glu	rs776462257	missense variant	-	NC_000005.10:g.7895804T>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val543Gly	rs776462257	missense variant	-	NC_000005.10:g.7895804T>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly544Cys	rs761674695	missense variant	-	NC_000005.10:g.7895806G>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Pro551Leu	rs1293710305	missense variant	-	NC_000005.10:g.7895828C>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Phe552Leu	rs776490741	missense variant	-	NC_000005.10:g.7895830T>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly554Arg	VAR_015731	Missense	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
MTRR	Q9UBK8	p.Gln557Arg	rs765859795	missense variant	-	NC_000005.10:g.7895846A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.His558Asn	rs115297357	missense variant	-	NC_000005.10:g.7895848C>A	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Arg559Gly	rs754603638	missense variant	-	NC_000005.10:g.7895851A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys561Arg	rs1416953395	missense variant	-	NC_000005.10:g.7896869A>G	gnomAD
MTRR	Q9UBK8	p.Gln563His	rs1160859814	missense variant	-	NC_000005.10:g.7896876A>C	gnomAD
MTRR	Q9UBK8	p.Glu564Lys	rs1391339546	missense variant	-	NC_000005.10:g.7896877G>A	gnomAD
MTRR	Q9UBK8	p.Gln565Lys	rs1458075785	missense variant	-	NC_000005.10:g.7896880C>A	gnomAD
MTRR	Q9UBK8	p.Asp568Val	rs1336717002	missense variant	-	NC_000005.10:g.7896890A>T	gnomAD
MTRR	Q9UBK8	p.Ala573Gly	rs1338601522	missense variant	-	NC_000005.10:g.7896905C>G	TOPMed
MTRR	Q9UBK8	p.Met574Val	rs781416288	missense variant	-	NC_000005.10:g.7896907A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Met574Thr	rs143217598	missense variant	-	NC_000005.10:g.7896908T>C	ESP,TOPMed
MTRR	Q9UBK8	p.Trp575Gly	rs941318399	missense variant	-	NC_000005.10:g.7896910T>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Trp575Arg	rs941318399	missense variant	-	NC_000005.10:g.7896910T>C	TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu576Trp	rs771123203	missense variant	-	NC_000005.10:g.7896914T>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu576del	VAR_012843	inframe_deletion	Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE) [MIM:236270]	-	UniProt
MTRR	Q9UBK8	p.Gly579Arg	rs1487911748	missense variant	-	NC_000005.10:g.7896922G>C	gnomAD
MTRR	Q9UBK8	p.Cys580Ser	rs1402612371	missense variant	-	NC_000005.10:g.7896925T>A	TOPMed
MTRR	Q9UBK8	p.Cys580Tyr	rs1290409729	missense variant	-	NC_000005.10:g.7896926G>A	gnomAD
MTRR	Q9UBK8	p.Arg581Lys	rs769695416	missense variant	-	NC_000005.10:g.7896929G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.His582Arg	rs772862967	missense variant	-	NC_000005.10:g.7896932A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.His582Asn	rs949973580	missense variant	-	NC_000005.10:g.7896931C>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp584Asn	rs1473313954	missense variant	-	NC_000005.10:g.7896937G>A	TOPMed
MTRR	Q9UBK8	p.Arg585Lys	rs749248453	missense variant	-	NC_000005.10:g.7896941G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Asp586Glu	rs148424643	missense variant	-	NC_000005.10:g.7896945T>G	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Tyr587Phe	rs773855624	missense variant	-	NC_000005.10:g.7896947A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys591Glu	rs368741550	missense variant	-	NC_000005.10:g.7897066A>G	ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys591Arg	rs1406055321	missense variant	-	NC_000005.10:g.7897067A>G	gnomAD
MTRR	Q9UBK8	p.Leu593Val	rs146415045	missense variant	-	NC_000005.10:g.7897072C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu593Phe	rs146415045	missense variant	-	NC_000005.10:g.7897072C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg594Ter	rs1293600145	stop gained	-	NC_000005.10:g.7897075A>T	TOPMed
MTRR	Q9UBK8	p.Arg594Ter	RCV000627375	nonsense	-	NC_000005.10:g.7897075A>T	ClinVar
MTRR	Q9UBK8	p.His595Arg	rs766836800	missense variant	-	NC_000005.10:g.7897079A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.His595Tyr	RCV000144924	missense variant	Gastrointestinal stroma tumor (GIST)	NC_000005.10:g.7897078C>T	ClinVar
MTRR	Q9UBK8	p.His595Tyr	rs10380	missense variant	-	NC_000005.10:g.7897078C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Phe596Cys	rs752176401	missense variant	-	NC_000005.10:g.7897082T>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Leu597Ile	rs755408035	missense variant	-	NC_000005.10:g.7897084C>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys598Arg	rs752681512	missense variant	-	NC_000005.10:g.7897088A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.His599Leu	rs777801608	missense variant	-	NC_000005.10:g.7897091A>T	ExAC,gnomAD
MTRR	Q9UBK8	p.His599Arg	rs777801608	missense variant	-	NC_000005.10:g.7897091A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.His599Tyr	rs756363513	missense variant	-	NC_000005.10:g.7897090C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile601Leu	rs1241817740	missense variant	-	NC_000005.10:g.7897096A>C	gnomAD
MTRR	Q9UBK8	p.Thr603Ile	rs1191005367	missense variant	-	NC_000005.10:g.7897103C>T	gnomAD
MTRR	Q9UBK8	p.His604Tyr	rs1288365278	missense variant	-	NC_000005.10:g.7897105C>T	TOPMed
MTRR	Q9UBK8	p.Leu605Arg	rs765296721	missense variant	-	NC_000005.10:g.7897109T>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Lys606Asn	rs939239779	missense variant	-	NC_000005.10:g.7897113G>T	TOPMed
MTRR	Q9UBK8	p.Val607Ile	rs114259126	missense variant	-	NC_000005.10:g.7897114G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val607Ile	RCV000441957	missense variant	-	NC_000005.10:g.7897114G>A	ClinVar
MTRR	Q9UBK8	p.Phe609Ile	rs981325394	missense variant	-	NC_000005.10:g.7897120T>A	TOPMed
MTRR	Q9UBK8	p.Ser610Leu	rs778650591	missense variant	-	NC_000005.10:g.7897124C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp612Glu	rs745857319	missense variant	-	NC_000005.10:g.7897131T>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Ala613Val	rs771852321	missense variant	-	NC_000005.10:g.7897133C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val615Ala	rs1318949494	missense variant	-	NC_000005.10:g.7897139T>C	gnomAD
MTRR	Q9UBK8	p.Gly616Arg	rs371312103	missense variant	-	NC_000005.10:g.7897141G>A	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.Glu617Lys	rs1381471922	missense variant	-	NC_000005.10:g.7897144G>A	gnomAD
MTRR	Q9UBK8	p.Glu618Lys	rs1241964702	missense variant	-	NC_000005.10:g.7897147G>A	gnomAD
MTRR	Q9UBK8	p.Val625Met	rs201802094	missense variant	-	NC_000005.10:g.7897168G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln626Glu	rs62342555	missense variant	-	NC_000005.10:g.7897171C>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Gln626Ter	rs62342555	stop gained	-	NC_000005.10:g.7897171C>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Asn628Ser	rs144020429	missense variant	-	NC_000005.10:g.7897178A>G	ESP,ExAC,TOPMed
MTRR	Q9UBK8	p.Ile629Thr	rs1444159491	missense variant	-	NC_000005.10:g.7897181T>C	gnomAD
MTRR	Q9UBK8	p.His632Arg	rs1473262246	missense variant	-	NC_000005.10:g.7897190A>G	gnomAD
MTRR	Q9UBK8	p.Gly633Asp	rs1294838883	missense variant	-	NC_000005.10:g.7897193G>A	TOPMed
MTRR	Q9UBK8	p.Gly633Ser	rs1305705594	missense variant	-	NC_000005.10:g.7897192G>A	TOPMed
MTRR	Q9UBK8	p.Ala637Ser	rs760727881	missense variant	-	NC_000005.10:g.7897204G>T	ExAC,gnomAD
MTRR	Q9UBK8	p.Ala637Val	rs764159535	missense variant	-	NC_000005.10:g.7897205C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala637Glu	rs764159535	missense variant	-	NC_000005.10:g.7897205C>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile639Ser	rs1404592166	missense variant	-	NC_000005.10:g.7897211T>G	TOPMed
MTRR	Q9UBK8	p.Leu640Ile	rs1394147915	missense variant	-	NC_000005.10:g.7897213C>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu641Pro	rs1314261918	missense variant	-	NC_000005.10:g.7897217T>C	gnomAD
MTRR	Q9UBK8	p.Leu641Phe	rs1300272351	missense variant	-	NC_000005.10:g.7897216C>T	TOPMed
MTRR	Q9UBK8	p.Glu643Gln	rs750142938	missense variant	-	NC_000005.10:g.7897222G>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Glu643Ter	RCV000778770	frameshift	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7897222_7897223insTT	ClinVar
MTRR	Q9UBK8	p.Asn644Thr	rs79732271	missense variant	-	NC_000005.10:g.7897226A>C	ExAC,gnomAD
MTRR	Q9UBK8	p.Asn644Lys	rs374659219	missense variant	-	NC_000005.10:g.7897227C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly645Ser	rs141002013	missense variant	-	NC_000005.10:g.7897228G>A	ESP,ExAC,gnomAD
MTRR	Q9UBK8	p.His646Asn	rs1210965189	missense variant	-	NC_000005.10:g.7897231C>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.His646Arg	rs780816682	missense variant	-	NC_000005.10:g.7897232A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala653Glu	rs773372129	missense variant	-	NC_000005.10:g.7899919C>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ala653Thr	rs372481533	missense variant	-	NC_000005.10:g.7899918G>A	ESP,TOPMed
MTRR	Q9UBK8	p.Ala653Val	rs773372129	missense variant	-	NC_000005.10:g.7899919C>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Asn655Ser	rs562405817	missense variant	-	NC_000005.10:g.7899925A>G	1000Genomes,ExAC,gnomAD
MTRR	Q9UBK8	p.Met656Val	rs1272597996	missense variant	-	NC_000005.10:g.7899927A>G	gnomAD
MTRR	Q9UBK8	p.Lys658Asn	rs1211893957	missense variant	-	NC_000005.10:g.7899935G>C	TOPMed
MTRR	Q9UBK8	p.Asp659Glu	rs751318676	missense variant	-	NC_000005.10:g.7899938T>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Asp659Tyr	rs1468134821	missense variant	-	NC_000005.10:g.7899936G>T	TOPMed
MTRR	Q9UBK8	p.Val660Ile	rs972091702	missense variant	-	NC_000005.10:g.7899939G>A	gnomAD
MTRR	Q9UBK8	p.His661Arg	rs148909799	missense variant	-	NC_000005.10:g.7899943A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.His661Arg	RCV000186041	missense variant	-	NC_000005.10:g.7899943A>G	ClinVar
MTRR	Q9UBK8	p.Ala663Gly	rs1220697965	missense variant	-	NC_000005.10:g.7899949C>G	TOPMed
MTRR	Q9UBK8	p.Gln666His	rs767507060	missense variant	-	NC_000005.10:g.7899959A>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gln666Arg	rs1192702371	missense variant	-	NC_000005.10:g.7899958A>G	gnomAD
MTRR	Q9UBK8	p.Gln666Ter	rs1487416176	stop gained	-	NC_000005.10:g.7899957C>T	gnomAD
MTRR	Q9UBK8	p.Ile667Val	rs755752404	missense variant	-	NC_000005.10:g.7899960A>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Ile667Met	rs1186554585	missense variant	-	NC_000005.10:g.7899962A>G	gnomAD
MTRR	Q9UBK8	p.Ser669Asn	rs201686214	missense variant	-	NC_000005.10:g.7899967G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Lys670Arg	rs1246446669	missense variant	-	NC_000005.10:g.7899970A>G	TOPMed,gnomAD
MTRR	Q9UBK8	p.Val672Phe	rs748945898	missense variant	-	NC_000005.10:g.7899975G>T	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val672Ile	rs748945898	missense variant	-	NC_000005.10:g.7899975G>A	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Gly673Val	rs1347756756	missense variant	-	NC_000005.10:g.7899979G>T	gnomAD
MTRR	Q9UBK8	p.Val674Gly	rs775031794	missense variant	-	NC_000005.10:g.7899982T>G	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val674Ala	rs775031794	missense variant	-	NC_000005.10:g.7899982T>C	ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Val674Ala	RCV000354530	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000005.10:g.7899982T>C	ClinVar
MTRR	Q9UBK8	p.Glu678Gly	rs1368681639	missense variant	-	NC_000005.10:g.7899994A>G	gnomAD
MTRR	Q9UBK8	p.Ala679Thr	rs769163205	missense variant	-	NC_000005.10:g.7899996G>A	ExAC,gnomAD
MTRR	Q9UBK8	p.Thr682Ser	rs760291661	missense variant	-	NC_000005.10:g.7900005A>T	TOPMed
MTRR	Q9UBK8	p.Thr682Ile	rs1296002312	missense variant	-	NC_000005.10:g.7900006C>T	gnomAD
MTRR	Q9UBK8	p.Thr685Ala	rs748646666	missense variant	-	NC_000005.10:g.7900014A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Glu688Lys	rs865805258	missense variant	-	NC_000005.10:g.7900023G>A	TOPMed
MTRR	Q9UBK8	p.Arg691His	rs1320146714	missense variant	-	NC_000005.10:g.7900033G>A	TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg691Cys	rs148414435	missense variant	-	NC_000005.10:g.7900032C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MTRR	Q9UBK8	p.Arg691Cys	RCV000174876	missense variant	-	NC_000005.10:g.7900032C>T	ClinVar
MTRR	Q9UBK8	p.Arg691Leu	rs1320146714	missense variant	-	NC_000005.10:g.7900033G>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Leu693Phe	rs1251352899	missense variant	-	NC_000005.10:g.7900038C>T	TOPMed,gnomAD
MTRR	Q9UBK8	p.Asp695Gly	rs763104140	missense variant	-	NC_000005.10:g.7900045A>G	ExAC,gnomAD
MTRR	Q9UBK8	p.Ile696Thr	rs766581986	missense variant	-	NC_000005.10:g.7900048T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Thr2Ser	rs143067369	missense variant	-	NC_000017.11:g.17577008G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg3Trp	rs70959686	missense variant	-	NC_000017.11:g.17577006G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg3Gln	rs767735937	missense variant	-	NC_000017.11:g.17577005C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu4Met	rs372480687	missense variant	-	NC_000017.11:g.17577003G>T	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly6Ser	rs766678032	missense variant	-	NC_000017.11:g.17576997C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly6Cys	rs766678032	missense variant	-	NC_000017.11:g.17576997C>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Tyr7Cys	rs763077503	missense variant	-	NC_000017.11:g.17576993T>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val8Met	rs144323623	missense variant	-	NC_000017.11:g.17576991C>T	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Pro10Thr	rs538509651	missense variant	-	NC_000017.11:g.17576985G>T	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Pro10Ser	COSM3514731	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17576985G>A	NCI-TCGA Cosmic
PEMT	Q9UBM1	p.Pro10Leu	rs1157530130	missense variant	-	NC_000017.11:g.17576984G>A	gnomAD
PEMT	Q9UBM1	p.Val11Ala	VAR_082891	Missense	-	-	UniProt
PEMT	Q9UBM1	p.Pro13Ser	rs368053864	missense variant	-	NC_000017.11:g.17576976G>A	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser14Gly	rs745433638	missense variant	-	NC_000017.11:g.17576973T>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser14Arg	rs745433638	missense variant	-	NC_000017.11:g.17576973T>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val16Met	rs374998488	missense variant	-	NC_000017.11:g.17576967C>T	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala17Asp	rs1195318361	missense variant	-	NC_000017.11:g.17576963G>T	gnomAD
PEMT	Q9UBM1	p.Ala18Gly	rs748826887	missense variant	-	NC_000017.11:g.17576960G>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala18Val	rs748826887	missense variant	-	NC_000017.11:g.17576960G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val19Ala	rs1299249104	missense variant	-	NC_000017.11:g.17576957A>G	gnomAD
PEMT	Q9UBM1	p.Val19Ile	rs372021222	missense variant	-	NC_000017.11:g.17576958C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ile22Val	rs781325863	missense variant	-	NC_000017.11:g.17576949T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Asn25Ser	rs567348854	missense variant	-	NC_000017.11:g.17576939T>C	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Pro26Leu	rs764843687	missense variant	-	NC_000017.11:g.17576936G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu27Phe	rs750598702	missense variant	-	NC_000017.11:g.17576934G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Leu27Arg	rs1298068738	missense variant	-	NC_000017.11:g.17576933A>C	gnomAD
PEMT	Q9UBM1	p.Tyr28Cys	rs762207699	missense variant	-	NC_000017.11:g.17576930T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Tyr28Ter	rs776961600	stop gained	-	NC_000017.11:g.17576929G>C	ExAC
PEMT	Q9UBM1	p.Trp29Ter	rs1165108786	stop gained	-	NC_000017.11:g.17576927C>T	gnomAD
PEMT	Q9UBM1	p.Asn30Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17576925T>A	NCI-TCGA
PEMT	Q9UBM1	p.Asn30Lys	rs1411443198	missense variant	-	NC_000017.11:g.17576923A>T	gnomAD
PEMT	Q9UBM1	p.Asn30His	rs1404385876	missense variant	-	NC_000017.11:g.17576925T>G	gnomAD
PEMT	Q9UBM1	p.Val32Ala	rs776495508	missense variant	-	NC_000017.11:g.17522394A>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val32Leu	rs761487331	missense variant	-	NC_000017.11:g.17522395C>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg34Gln	rs779901301	missense variant	-	NC_000017.11:g.17522388C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Arg34Pro	rs779901301	missense variant	-	NC_000017.11:g.17522388C>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Arg34Ter	rs768283496	stop gained	-	NC_000017.11:g.17522389G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Trp35Arg	rs746009249	missense variant	-	NC_000017.11:g.17522386A>G	ExAC,gnomAD
PEMT	Q9UBM1	p.His37Arg	rs1359692381	missense variant	-	NC_000017.11:g.17522379T>C	gnomAD
PEMT	Q9UBM1	p.Lys38Glu	rs1026563261	missense variant	-	NC_000017.11:g.17522377T>C	gnomAD
PEMT	Q9UBM1	p.Thr39Asn	rs754002033	missense variant	-	NC_000017.11:g.17522373G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg40Ser	rs756474306	missense variant	-	NC_000017.11:g.17522371G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg40His	rs77857768	missense variant	-	NC_000017.11:g.17522370C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg40Cys	rs756474306	missense variant	-	NC_000017.11:g.17522371G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Lys41Glu	rs1257131019	missense variant	-	NC_000017.11:g.17522368T>C	gnomAD
PEMT	Q9UBM1	p.Ser43Asn	rs368301905	missense variant	-	NC_000017.11:g.17522361C>T	ESP,ExAC,gnomAD
PEMT	Q9UBM1	p.Ser43Arg	rs749955730	missense variant	-	NC_000017.11:g.17522362T>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg44Gly	rs1375708568	missense variant	-	NC_000017.11:g.17522359T>C	gnomAD
PEMT	Q9UBM1	p.Ala45Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17522356C>G	NCI-TCGA
PEMT	Q9UBM1	p.Ala45Gly	rs776110645	missense variant	-	NC_000017.11:g.17522355G>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala45Thr	rs761576939	missense variant	-	NC_000017.11:g.17522356C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala45Asp	rs776110645	missense variant	-	NC_000017.11:g.17522355G>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala45Val	rs776110645	missense variant	-	NC_000017.11:g.17522355G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Phe46Leu	rs140872588	missense variant	-	NC_000017.11:g.17522351G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly47Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.17522350C>A	NCI-TCGA
PEMT	Q9UBM1	p.Gly47Arg	rs775345366	missense variant	-	NC_000017.11:g.17522350C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ser48Pro	rs1026497312	missense variant	-	NC_000017.11:g.17522347A>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser48Phe	rs1035350632	missense variant	-	NC_000017.11:g.17522346G>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Tyr50Cys	rs745740700	missense variant	-	NC_000017.11:g.17522340T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Leu51Pro	rs1461260456	missense variant	-	NC_000017.11:g.17522337A>G	TOPMed
PEMT	Q9UBM1	p.Ala52Thr	rs770950291	missense variant	-	NC_000017.11:g.17522335C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Tyr54Cys	rs1181851094	missense variant	-	NC_000017.11:g.17522328T>C	gnomAD
PEMT	Q9UBM1	p.Ser55Cys	rs114310588	missense variant	-	NC_000017.11:g.17522325G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val58Leu	rs897453	missense variant	-	NC_000017.11:g.17522317C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val58Leu	rs897453	missense variant	-	NC_000017.11:g.17522317C>G	UniProt,dbSNP
PEMT	Q9UBM1	p.Val58Leu	VAR_060083	missense variant	-	NC_000017.11:g.17522317C>G	UniProt
PEMT	Q9UBM1	p.Val58Ile	rs897453	missense variant	-	NC_000017.11:g.17522317C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val58Ile	rs897453	missense variant	-	NC_000017.11:g.17522317C>T	UniProt,dbSNP
PEMT	Q9UBM1	p.Val58Ile	VAR_032771	missense variant	-	NC_000017.11:g.17522317C>T	UniProt
PEMT	Q9UBM1	p.Val58Phe	rs897453	missense variant	-	NC_000017.11:g.17522317C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu63Arg	rs756871634	missense variant	-	NC_000017.11:g.17522301A>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Asn64Tyr	rs753370914	missense variant	-	NC_000017.11:g.17522299T>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Phe65Leu	rs763714624	missense variant	-	NC_000017.11:g.17522296A>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Arg67His	rs775153502	missense variant	-	NC_000017.11:g.17522289C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Arg67Cys	rs1298683037	missense variant	-	NC_000017.11:g.17522290G>A	gnomAD
PEMT	Q9UBM1	p.Ser68Leu	rs1296636713	missense variant	-	NC_000017.11:g.17522286G>A	gnomAD
PEMT	Q9UBM1	p.His69Leu	rs771507562	missense variant	-	NC_000017.11:g.17522283T>A	gnomAD
PEMT	Q9UBM1	p.His69Tyr	rs554181448	missense variant	-	NC_000017.11:g.17522284G>A	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Cys70Arg	rs1422382053	missense variant	-	NC_000017.11:g.17522281A>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Phe71Val	rs1207668802	missense variant	-	NC_000017.11:g.17512653A>C	gnomAD
PEMT	Q9UBM1	p.Thr72Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17512650T>C	NCI-TCGA
PEMT	Q9UBM1	p.Thr72Lys	rs534953760	missense variant	-	NC_000017.11:g.17512649G>T	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr72Met	rs534953760	missense variant	-	NC_000017.11:g.17512649G>A	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Gln73Arg	rs752347106	missense variant	-	NC_000017.11:g.17512646T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Met75Ile	rs767332977	missense variant	-	NC_000017.11:g.17512639C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Met75Thr	rs752592795	missense variant	-	NC_000017.11:g.17512640A>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Pro79Thr	rs1235548130	missense variant	-	NC_000017.11:g.17512629G>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Pro79Ser	rs1235548130	missense variant	-	NC_000017.11:g.17512629G>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Met81Ile	rs759374196	missense variant	-	NC_000017.11:g.17512621C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Glu82Lys	rs1317819179	missense variant	-	NC_000017.11:g.17512620C>T	TOPMed
PEMT	Q9UBM1	p.Glu82Gly	rs1300903306	missense variant	-	NC_000017.11:g.17512619T>C	gnomAD
PEMT	Q9UBM1	p.Glu82Asp	rs999211915	missense variant	-	NC_000017.11:g.17512618C>G	gnomAD
PEMT	Q9UBM1	p.Ser83Asn	rs774116756	missense variant	-	NC_000017.11:g.17512616C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Leu84Val	rs1332460817	missense variant	-	NC_000017.11:g.17512614G>C	gnomAD
PEMT	Q9UBM1	p.Pro87Thr	rs766369958	missense variant	-	NC_000017.11:g.17512605G>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala88Thr	rs1055467279	missense variant	-	NC_000017.11:g.17512602C>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala88Val	rs773175169	missense variant	-	NC_000017.11:g.17512601G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala88Glu	rs773175169	missense variant	-	NC_000017.11:g.17512601G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala89Gly	rs769859641	missense variant	-	NC_000017.11:g.17512598G>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala89Ser	rs903489785	missense variant	-	NC_000017.11:g.17512599C>A	gnomAD
PEMT	Q9UBM1	p.Ser91Cys	rs1174167961	missense variant	-	NC_000017.11:g.17512593T>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser91Ile	rs777030361	missense variant	-	NC_000017.11:g.17512592C>A	ExAC
PEMT	Q9UBM1	p.Gly93Asp	rs1456246139	missense variant	-	NC_000017.11:g.17512586C>T	gnomAD
PEMT	Q9UBM1	p.Leu94Phe	rs983040006	missense variant	-	NC_000017.11:g.17512584G>A	TOPMed
PEMT	Q9UBM1	p.Ala95Glu	rs758836292	missense variant	-	NC_000017.11:g.17512580G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala95Val	rs758836292	missense variant	-	NC_000017.11:g.17512580G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala95Thr	rs780565434	missense variant	-	NC_000017.11:g.17512581C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu96Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17512577A>G	NCI-TCGA
PEMT	Q9UBM1	p.Gly100Val	rs1446557913	missense variant	-	NC_000017.11:g.17512565C>A	gnomAD
PEMT	Q9UBM1	p.Val101Ile	rs1336774178	missense variant	-	NC_000017.11:g.17512563C>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Val102Met	rs200896808	missense variant	-	NC_000017.11:g.17512560C>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Val104Met	rs572671874	missense variant	-	NC_000017.11:g.17512554C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val104Leu	rs572671874	missense variant	-	NC_000017.11:g.17512554C>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val104Leu	rs572671874	missense variant	-	NC_000017.11:g.17512554C>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser106Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17512548A>G	NCI-TCGA
PEMT	Q9UBM1	p.Ser106Phe	rs751359333	missense variant	-	NC_000017.11:g.17512547G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Ser107Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17512545T>C	NCI-TCGA
PEMT	Q9UBM1	p.Phe108Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17512540G>T	NCI-TCGA
PEMT	Q9UBM1	p.Phe108Leu	rs1238969900	missense variant	-	NC_000017.11:g.17512542A>G	gnomAD
PEMT	Q9UBM1	p.Gly112Glu	rs750332530	missense variant	-	NC_000017.11:g.17512529C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Phe113Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17512527A>G	NCI-TCGA
PEMT	Q9UBM1	p.Phe113Leu	rs70963100	missense variant	-	NC_000017.11:g.17512525G>C	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala114Thr	rs1232985454	missense variant	-	NC_000017.11:g.17512524C>T	TOPMed
PEMT	Q9UBM1	p.Phe117Leu	rs769070914	missense variant	-	NC_000017.11:g.17512513G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Phe117Leu	rs769070914	missense variant	-	NC_000017.11:g.17512513G>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Asp120Asn	rs765279907	missense variant	-	NC_000017.11:g.17509543C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Asp120Glu	rs527440904	missense variant	-	NC_000017.11:g.17509541A>C	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Asp120Gly	rs1310346016	missense variant	-	NC_000017.11:g.17509542T>C	TOPMed
PEMT	Q9UBM1	p.Gly123Arg	rs773288219	missense variant	-	NC_000017.11:g.17509534C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Lys126Glu	rs761000841	missense variant	-	NC_000017.11:g.17509525T>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Glu127Asp	rs775814752	missense variant	-	NC_000017.11:g.17509520C>G	ExAC,TOPMed
PEMT	Q9UBM1	p.Glu127Asp	rs775814752	missense variant	-	NC_000017.11:g.17509520C>A	ExAC,TOPMed
PEMT	Q9UBM1	p.Ala128Val	rs898456993	missense variant	-	NC_000017.11:g.17509518G>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg129Lys	COSM4847461	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17509515C>T	NCI-TCGA Cosmic
PEMT	Q9UBM1	p.Thr131Ile	rs1474440611	missense variant	-	NC_000017.11:g.17509509G>A	gnomAD
PEMT	Q9UBM1	p.Val132Met	rs551149216	missense variant	-	NC_000017.11:g.17509507C>T	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Phe133Leu	rs1451451882	missense variant	-	NC_000017.11:g.17509502G>T	gnomAD
PEMT	Q9UBM1	p.Pro134Ser	COSM3514728	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17509501G>A	NCI-TCGA Cosmic
PEMT	Q9UBM1	p.Pro134Arg	rs1271654153	missense variant	-	NC_000017.11:g.17509500G>C	gnomAD
PEMT	Q9UBM1	p.Leu138Pro	rs771472389	missense variant	-	NC_000017.11:g.17509488A>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Asp139Gly	rs780701812	missense variant	-	NC_000017.11:g.17509485T>C	ExAC
PEMT	Q9UBM1	p.Asp139Asn	rs368744924	missense variant	-	NC_000017.11:g.17509486C>T	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Asn140Ser	COSM4064318	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17509482T>C	NCI-TCGA Cosmic
PEMT	Q9UBM1	p.Met142Arg	rs768110311	missense variant	-	NC_000017.11:g.17509476A>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Tyr143Cys	rs1275127787	missense variant	-	NC_000017.11:g.17509473T>C	gnomAD
PEMT	Q9UBM1	p.Gly145Arg	rs542555509	missense variant	-	NC_000017.11:g.17509468C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr147Pro	rs1167456272	missense variant	-	NC_000017.11:g.17509462T>G	TOPMed
PEMT	Q9UBM1	p.Thr147Ile	rs1375943141	missense variant	-	NC_000017.11:g.17509461G>A	TOPMed
PEMT	Q9UBM1	p.Asn149Lys	rs779802778	missense variant	-	NC_000017.11:g.17509454G>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Tyr150Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17509452T>C	NCI-TCGA
PEMT	Q9UBM1	p.Tyr150Asn	rs1416562852	missense variant	-	NC_000017.11:g.17509453A>T	TOPMed
PEMT	Q9UBM1	p.Gly152Val	rs1168193156	missense variant	-	NC_000017.11:g.17509446C>A	gnomAD
PEMT	Q9UBM1	p.Gly152Ser	rs757977448	missense variant	-	NC_000017.11:g.17509447C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Met156Thr	rs1408325210	missense variant	-	NC_000017.11:g.17509434A>G	gnomAD
PEMT	Q9UBM1	p.His157Tyr	rs770166319	missense variant	-	NC_000017.11:g.17506300G>A	gnomAD
PEMT	Q9UBM1	p.His157Arg	rs1380670626	missense variant	-	NC_000017.11:g.17506299T>C	gnomAD
PEMT	Q9UBM1	p.Ala158Thr	rs1436019166	missense variant	-	NC_000017.11:g.17506297C>T	gnomAD
PEMT	Q9UBM1	p.Ala158Ser	rs1436019166	missense variant	-	NC_000017.11:g.17506297C>A	gnomAD
PEMT	Q9UBM1	p.Ala158Val	COSM3691389	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17506296G>A	NCI-TCGA Cosmic
PEMT	Q9UBM1	p.Ser159Ile	rs866534197	missense variant	-	NC_000017.11:g.17506293C>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser159Asn	rs866534197	missense variant	-	NC_000017.11:g.17506293C>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser159Thr	rs866534197	missense variant	-	NC_000017.11:g.17506293C>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Pro160Thr	rs1486021934	missense variant	-	NC_000017.11:g.17506291G>T	gnomAD
PEMT	Q9UBM1	p.Pro160Ser	rs1486021934	missense variant	-	NC_000017.11:g.17506291G>A	gnomAD
PEMT	Q9UBM1	p.Thr161Met	rs570152739	missense variant	-	NC_000017.11:g.17506287G>A	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Thr161Lys	rs570152739	missense variant	-	NC_000017.11:g.17506287G>T	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Thr166Lys	rs1055292388	missense variant	-	NC_000017.11:g.17506272G>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr166Met	rs1055292388	missense variant	-	NC_000017.11:g.17506272G>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr166Ala	rs1221217569	missense variant	-	NC_000017.11:g.17506273T>C	TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu168Pro	rs758611919	missense variant	-	NC_000017.11:g.17506266A>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu168Arg	rs758611919	missense variant	-	NC_000017.11:g.17506266A>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala170Asp	rs750794228	missense variant	-	NC_000017.11:g.17506260G>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Leu171Arg	rs1421140122	missense variant	-	NC_000017.11:g.17506257A>C	gnomAD
PEMT	Q9UBM1	p.Leu171Phe	rs765530757	missense variant	-	NC_000017.11:g.17506258G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Tyr173His	rs1385150449	missense variant	-	NC_000017.11:g.17506252A>G	gnomAD
PEMT	Q9UBM1	p.Tyr173Ter	rs1157801889	stop gained	-	NC_000017.11:g.17506250G>T	gnomAD
PEMT	Q9UBM1	p.Ile174Met	rs754264432	missense variant	-	NC_000017.11:g.17506247T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Ile174Thr	rs762407702	missense variant	-	NC_000017.11:g.17506248A>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Val175Met	rs7946	missense variant	-	NC_000017.11:g.17506246C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala176Thr	rs1475609173	missense variant	-	NC_000017.11:g.17506243C>T	gnomAD
PEMT	Q9UBM1	p.Leu177Phe	rs1256891212	missense variant	-	NC_000017.11:g.17506240G>A	gnomAD
PEMT	Q9UBM1	p.Leu177Pro	rs530726227	missense variant	-	NC_000017.11:g.17506239A>G	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Glu180Lys	rs376787997	missense variant	-	NC_000017.11:g.17506231C>T	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Glu181Gln	rs773162423	missense variant	-	NC_000017.11:g.17506228C>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Pro182Ser	rs777982658	missense variant	-	NC_000017.11:g.17505847G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Pro182Arg	rs1194684748	missense variant	-	NC_000017.11:g.17505846G>C	gnomAD
PEMT	Q9UBM1	p.Thr184Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.17505841T>G	NCI-TCGA
PEMT	Q9UBM1	p.Thr184Ile	rs772103277	missense variant	-	NC_000017.11:g.17505840G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala185Thr	rs375372363	missense variant	-	NC_000017.11:g.17505838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Glu186Ala	rs1307640473	missense variant	-	NC_000017.11:g.17505834T>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ile187Val	rs757489116	missense variant	-	NC_000017.11:g.17505832T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Arg189Trp	rs140621950	missense variant	-	NC_000017.11:g.17505826G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg189Leu	rs147868279	missense variant	-	NC_000017.11:g.17505825C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg189Gln	rs147868279	missense variant	-	NC_000017.11:g.17505825C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala192Val	rs768106458	missense variant	-	NC_000017.11:g.17505816G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala192Gly	rs768106458	missense variant	-	NC_000017.11:g.17505816G>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Gly194Val	rs1368492898	missense variant	-	NC_000017.11:g.17505810C>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly194Arg	rs70965427	missense variant	-	NC_000017.11:g.17505811C>T	1000Genomes,ESP,TOPMed,gnomAD
PEMT	Q9UBM1	p.Lys197Glu	rs749935587	missense variant	-	NC_000017.11:g.17505802T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Ser199Asn	rs761459437	missense variant	-	NC_000017.11:g.17505795C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ser199Cys	rs764861768	missense variant	-	NC_000017.11:g.17505796T>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr2Ser	rs143067369	missense variant	-	NC_000017.11:g.17577008G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg3Trp	rs70959686	missense variant	-	NC_000017.11:g.17577006G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg3Gln	rs767735937	missense variant	-	NC_000017.11:g.17577005C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu4Met	rs372480687	missense variant	-	NC_000017.11:g.17577003G>T	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly6Ser	rs766678032	missense variant	-	NC_000017.11:g.17576997C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly6Cys	rs766678032	missense variant	-	NC_000017.11:g.17576997C>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Tyr7Cys	rs763077503	missense variant	-	NC_000017.11:g.17576993T>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val8Met	rs144323623	missense variant	-	NC_000017.11:g.17576991C>T	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Pro10Thr	rs538509651	missense variant	-	NC_000017.11:g.17576985G>T	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Pro10Leu	rs1157530130	missense variant	-	NC_000017.11:g.17576984G>A	gnomAD
PEMT	Q9UBM1	p.Val11Ala	VAR_082891	Missense	-	-	UniProt
PEMT	Q9UBM1	p.Pro13Ser	rs368053864	missense variant	-	NC_000017.11:g.17576976G>A	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser14Arg	rs745433638	missense variant	-	NC_000017.11:g.17576973T>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser14Gly	rs745433638	missense variant	-	NC_000017.11:g.17576973T>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val16Met	rs374998488	missense variant	-	NC_000017.11:g.17576967C>T	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala17Asp	rs1195318361	missense variant	-	NC_000017.11:g.17576963G>T	gnomAD
PEMT	Q9UBM1	p.Ala18Gly	rs748826887	missense variant	-	NC_000017.11:g.17576960G>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala18Val	rs748826887	missense variant	-	NC_000017.11:g.17576960G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val19Ile	rs372021222	missense variant	-	NC_000017.11:g.17576958C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val19Ala	rs1299249104	missense variant	-	NC_000017.11:g.17576957A>G	gnomAD
PEMT	Q9UBM1	p.Ile22Val	rs781325863	missense variant	-	NC_000017.11:g.17576949T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Asn25Ser	rs567348854	missense variant	-	NC_000017.11:g.17576939T>C	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Pro26Leu	rs764843687	missense variant	-	NC_000017.11:g.17576936G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu27Phe	rs750598702	missense variant	-	NC_000017.11:g.17576934G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Leu27Arg	rs1298068738	missense variant	-	NC_000017.11:g.17576933A>C	gnomAD
PEMT	Q9UBM1	p.Tyr28Cys	rs762207699	missense variant	-	NC_000017.11:g.17576930T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Tyr28Ter	rs776961600	stop gained	-	NC_000017.11:g.17576929G>C	ExAC
PEMT	Q9UBM1	p.Trp29Ter	rs1165108786	stop gained	-	NC_000017.11:g.17576927C>T	gnomAD
PEMT	Q9UBM1	p.Asn30Lys	rs1411443198	missense variant	-	NC_000017.11:g.17576923A>T	gnomAD
PEMT	Q9UBM1	p.Asn30His	rs1404385876	missense variant	-	NC_000017.11:g.17576925T>G	gnomAD
PEMT	Q9UBM1	p.Val32Ala	rs776495508	missense variant	-	NC_000017.11:g.17522394A>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val32Leu	rs761487331	missense variant	-	NC_000017.11:g.17522395C>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg34Gln	rs779901301	missense variant	-	NC_000017.11:g.17522388C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Arg34Ter	rs768283496	stop gained	-	NC_000017.11:g.17522389G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Arg34Pro	rs779901301	missense variant	-	NC_000017.11:g.17522388C>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Trp35Arg	rs746009249	missense variant	-	NC_000017.11:g.17522386A>G	ExAC,gnomAD
PEMT	Q9UBM1	p.His37Arg	rs1359692381	missense variant	-	NC_000017.11:g.17522379T>C	gnomAD
PEMT	Q9UBM1	p.Lys38Glu	rs1026563261	missense variant	-	NC_000017.11:g.17522377T>C	gnomAD
PEMT	Q9UBM1	p.Thr39Asn	rs754002033	missense variant	-	NC_000017.11:g.17522373G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg40Ser	rs756474306	missense variant	-	NC_000017.11:g.17522371G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg40Cys	rs756474306	missense variant	-	NC_000017.11:g.17522371G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg40His	rs77857768	missense variant	-	NC_000017.11:g.17522370C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Lys41Glu	rs1257131019	missense variant	-	NC_000017.11:g.17522368T>C	gnomAD
PEMT	Q9UBM1	p.Ser43Asn	rs368301905	missense variant	-	NC_000017.11:g.17522361C>T	ESP,ExAC,gnomAD
PEMT	Q9UBM1	p.Ser43Arg	rs749955730	missense variant	-	NC_000017.11:g.17522362T>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg44Gly	rs1375708568	missense variant	-	NC_000017.11:g.17522359T>C	gnomAD
PEMT	Q9UBM1	p.Ala45Val	rs776110645	missense variant	-	NC_000017.11:g.17522355G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala45Gly	rs776110645	missense variant	-	NC_000017.11:g.17522355G>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala45Thr	rs761576939	missense variant	-	NC_000017.11:g.17522356C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala45Asp	rs776110645	missense variant	-	NC_000017.11:g.17522355G>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Phe46Leu	rs140872588	missense variant	-	NC_000017.11:g.17522351G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly47Arg	rs775345366	missense variant	-	NC_000017.11:g.17522350C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ser48Phe	rs1035350632	missense variant	-	NC_000017.11:g.17522346G>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser48Pro	rs1026497312	missense variant	-	NC_000017.11:g.17522347A>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Tyr50Cys	rs745740700	missense variant	-	NC_000017.11:g.17522340T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Leu51Pro	rs1461260456	missense variant	-	NC_000017.11:g.17522337A>G	TOPMed
PEMT	Q9UBM1	p.Ala52Thr	rs770950291	missense variant	-	NC_000017.11:g.17522335C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Tyr54Cys	rs1181851094	missense variant	-	NC_000017.11:g.17522328T>C	gnomAD
PEMT	Q9UBM1	p.Ser55Cys	rs114310588	missense variant	-	NC_000017.11:g.17522325G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val58Leu	rs897453	missense variant	-	NC_000017.11:g.17522317C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val58Leu	rs897453	missense variant	-	NC_000017.11:g.17522317C>G	UniProt,dbSNP
PEMT	Q9UBM1	p.Val58Leu	VAR_060083	missense variant	-	NC_000017.11:g.17522317C>G	UniProt
PEMT	Q9UBM1	p.Val58Phe	rs897453	missense variant	-	NC_000017.11:g.17522317C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val58Ile	rs897453	missense variant	-	NC_000017.11:g.17522317C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val58Ile	rs897453	missense variant	-	NC_000017.11:g.17522317C>T	UniProt,dbSNP
PEMT	Q9UBM1	p.Val58Ile	VAR_032771	missense variant	-	NC_000017.11:g.17522317C>T	UniProt
PEMT	Q9UBM1	p.Leu63Arg	rs756871634	missense variant	-	NC_000017.11:g.17522301A>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Asn64Tyr	rs753370914	missense variant	-	NC_000017.11:g.17522299T>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Phe65Leu	rs763714624	missense variant	-	NC_000017.11:g.17522296A>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Arg67Cys	rs1298683037	missense variant	-	NC_000017.11:g.17522290G>A	gnomAD
PEMT	Q9UBM1	p.Arg67His	rs775153502	missense variant	-	NC_000017.11:g.17522289C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ser68Leu	rs1296636713	missense variant	-	NC_000017.11:g.17522286G>A	gnomAD
PEMT	Q9UBM1	p.His69Leu	rs771507562	missense variant	-	NC_000017.11:g.17522283T>A	gnomAD
PEMT	Q9UBM1	p.His69Tyr	rs554181448	missense variant	-	NC_000017.11:g.17522284G>A	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Cys70Arg	rs1422382053	missense variant	-	NC_000017.11:g.17522281A>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Phe71Val	rs1207668802	missense variant	-	NC_000017.11:g.17512653A>C	gnomAD
PEMT	Q9UBM1	p.Thr72Met	rs534953760	missense variant	-	NC_000017.11:g.17512649G>A	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr72Lys	rs534953760	missense variant	-	NC_000017.11:g.17512649G>T	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Gln73Arg	rs752347106	missense variant	-	NC_000017.11:g.17512646T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Met75Ile	rs767332977	missense variant	-	NC_000017.11:g.17512639C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Met75Thr	rs752592795	missense variant	-	NC_000017.11:g.17512640A>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Pro79Thr	rs1235548130	missense variant	-	NC_000017.11:g.17512629G>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Pro79Ser	rs1235548130	missense variant	-	NC_000017.11:g.17512629G>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Met81Ile	rs759374196	missense variant	-	NC_000017.11:g.17512621C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Glu82Lys	rs1317819179	missense variant	-	NC_000017.11:g.17512620C>T	TOPMed
PEMT	Q9UBM1	p.Glu82Gly	rs1300903306	missense variant	-	NC_000017.11:g.17512619T>C	gnomAD
PEMT	Q9UBM1	p.Glu82Asp	rs999211915	missense variant	-	NC_000017.11:g.17512618C>G	gnomAD
PEMT	Q9UBM1	p.Ser83Asn	rs774116756	missense variant	-	NC_000017.11:g.17512616C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Leu84Val	rs1332460817	missense variant	-	NC_000017.11:g.17512614G>C	gnomAD
PEMT	Q9UBM1	p.Pro87Thr	rs766369958	missense variant	-	NC_000017.11:g.17512605G>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala88Glu	rs773175169	missense variant	-	NC_000017.11:g.17512601G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala88Val	rs773175169	missense variant	-	NC_000017.11:g.17512601G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala88Thr	rs1055467279	missense variant	-	NC_000017.11:g.17512602C>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala89Ser	rs903489785	missense variant	-	NC_000017.11:g.17512599C>A	gnomAD
PEMT	Q9UBM1	p.Ala89Gly	rs769859641	missense variant	-	NC_000017.11:g.17512598G>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser91Ile	rs777030361	missense variant	-	NC_000017.11:g.17512592C>A	ExAC
PEMT	Q9UBM1	p.Ser91Cys	rs1174167961	missense variant	-	NC_000017.11:g.17512593T>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly93Asp	rs1456246139	missense variant	-	NC_000017.11:g.17512586C>T	gnomAD
PEMT	Q9UBM1	p.Leu94Phe	rs983040006	missense variant	-	NC_000017.11:g.17512584G>A	TOPMed
PEMT	Q9UBM1	p.Ala95Val	rs758836292	missense variant	-	NC_000017.11:g.17512580G>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala95Thr	rs780565434	missense variant	-	NC_000017.11:g.17512581C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala95Glu	rs758836292	missense variant	-	NC_000017.11:g.17512580G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly100Val	rs1446557913	missense variant	-	NC_000017.11:g.17512565C>A	gnomAD
PEMT	Q9UBM1	p.Val101Ile	rs1336774178	missense variant	-	NC_000017.11:g.17512563C>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Val102Met	rs200896808	missense variant	-	NC_000017.11:g.17512560C>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Val104Met	rs572671874	missense variant	-	NC_000017.11:g.17512554C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val104Leu	rs572671874	missense variant	-	NC_000017.11:g.17512554C>A	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Val104Leu	rs572671874	missense variant	-	NC_000017.11:g.17512554C>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser106Phe	rs751359333	missense variant	-	NC_000017.11:g.17512547G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Phe108Leu	rs1238969900	missense variant	-	NC_000017.11:g.17512542A>G	gnomAD
PEMT	Q9UBM1	p.Gly112Glu	rs750332530	missense variant	-	NC_000017.11:g.17512529C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Phe113Leu	rs70963100	missense variant	-	NC_000017.11:g.17512525G>C	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala114Thr	rs1232985454	missense variant	-	NC_000017.11:g.17512524C>T	TOPMed
PEMT	Q9UBM1	p.Phe117Leu	rs769070914	missense variant	-	NC_000017.11:g.17512513G>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Phe117Leu	rs769070914	missense variant	-	NC_000017.11:g.17512513G>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Asp120Asn	rs765279907	missense variant	-	NC_000017.11:g.17509543C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Asp120Gly	rs1310346016	missense variant	-	NC_000017.11:g.17509542T>C	TOPMed
PEMT	Q9UBM1	p.Asp120Glu	rs527440904	missense variant	-	NC_000017.11:g.17509541A>C	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Gly123Arg	rs773288219	missense variant	-	NC_000017.11:g.17509534C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Lys126Glu	rs761000841	missense variant	-	NC_000017.11:g.17509525T>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Glu127Asp	rs775814752	missense variant	-	NC_000017.11:g.17509520C>G	ExAC,TOPMed
PEMT	Q9UBM1	p.Glu127Asp	rs775814752	missense variant	-	NC_000017.11:g.17509520C>A	ExAC,TOPMed
PEMT	Q9UBM1	p.Ala128Val	rs898456993	missense variant	-	NC_000017.11:g.17509518G>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr131Ile	rs1474440611	missense variant	-	NC_000017.11:g.17509509G>A	gnomAD
PEMT	Q9UBM1	p.Val132Met	rs551149216	missense variant	-	NC_000017.11:g.17509507C>T	1000Genomes,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Phe133Leu	rs1451451882	missense variant	-	NC_000017.11:g.17509502G>T	gnomAD
PEMT	Q9UBM1	p.Pro134Arg	rs1271654153	missense variant	-	NC_000017.11:g.17509500G>C	gnomAD
PEMT	Q9UBM1	p.Leu138Pro	rs771472389	missense variant	-	NC_000017.11:g.17509488A>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Asp139Asn	rs368744924	missense variant	-	NC_000017.11:g.17509486C>T	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Asp139Gly	rs780701812	missense variant	-	NC_000017.11:g.17509485T>C	ExAC
PEMT	Q9UBM1	p.Met142Arg	rs768110311	missense variant	-	NC_000017.11:g.17509476A>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Tyr143Cys	rs1275127787	missense variant	-	NC_000017.11:g.17509473T>C	gnomAD
PEMT	Q9UBM1	p.Gly145Arg	rs542555509	missense variant	-	NC_000017.11:g.17509468C>T	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr147Pro	rs1167456272	missense variant	-	NC_000017.11:g.17509462T>G	TOPMed
PEMT	Q9UBM1	p.Thr147Ile	rs1375943141	missense variant	-	NC_000017.11:g.17509461G>A	TOPMed
PEMT	Q9UBM1	p.Asn149Lys	rs779802778	missense variant	-	NC_000017.11:g.17509454G>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Tyr150Asn	rs1416562852	missense variant	-	NC_000017.11:g.17509453A>T	TOPMed
PEMT	Q9UBM1	p.Gly152Val	rs1168193156	missense variant	-	NC_000017.11:g.17509446C>A	gnomAD
PEMT	Q9UBM1	p.Gly152Ser	rs757977448	missense variant	-	NC_000017.11:g.17509447C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Met156Thr	rs1408325210	missense variant	-	NC_000017.11:g.17509434A>G	gnomAD
PEMT	Q9UBM1	p.His157Tyr	rs770166319	missense variant	-	NC_000017.11:g.17506300G>A	gnomAD
PEMT	Q9UBM1	p.His157Arg	rs1380670626	missense variant	-	NC_000017.11:g.17506299T>C	gnomAD
PEMT	Q9UBM1	p.Ala158Thr	rs1436019166	missense variant	-	NC_000017.11:g.17506297C>T	gnomAD
PEMT	Q9UBM1	p.Ala158Ser	rs1436019166	missense variant	-	NC_000017.11:g.17506297C>A	gnomAD
PEMT	Q9UBM1	p.Ser159Ile	rs866534197	missense variant	-	NC_000017.11:g.17506293C>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser159Thr	rs866534197	missense variant	-	NC_000017.11:g.17506293C>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ser159Asn	rs866534197	missense variant	-	NC_000017.11:g.17506293C>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Pro160Ser	rs1486021934	missense variant	-	NC_000017.11:g.17506291G>A	gnomAD
PEMT	Q9UBM1	p.Pro160Thr	rs1486021934	missense variant	-	NC_000017.11:g.17506291G>T	gnomAD
PEMT	Q9UBM1	p.Thr161Met	rs570152739	missense variant	-	NC_000017.11:g.17506287G>A	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Thr161Lys	rs570152739	missense variant	-	NC_000017.11:g.17506287G>T	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Thr166Lys	rs1055292388	missense variant	-	NC_000017.11:g.17506272G>T	TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr166Met	rs1055292388	missense variant	-	NC_000017.11:g.17506272G>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Thr166Ala	rs1221217569	missense variant	-	NC_000017.11:g.17506273T>C	TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu168Pro	rs758611919	missense variant	-	NC_000017.11:g.17506266A>G	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Leu168Arg	rs758611919	missense variant	-	NC_000017.11:g.17506266A>C	ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala170Asp	rs750794228	missense variant	-	NC_000017.11:g.17506260G>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Leu171Phe	rs765530757	missense variant	-	NC_000017.11:g.17506258G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Leu171Arg	rs1421140122	missense variant	-	NC_000017.11:g.17506257A>C	gnomAD
PEMT	Q9UBM1	p.Tyr173Ter	rs1157801889	stop gained	-	NC_000017.11:g.17506250G>T	gnomAD
PEMT	Q9UBM1	p.Tyr173His	rs1385150449	missense variant	-	NC_000017.11:g.17506252A>G	gnomAD
PEMT	Q9UBM1	p.Ile174Met	rs754264432	missense variant	-	NC_000017.11:g.17506247T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Ile174Thr	rs762407702	missense variant	-	NC_000017.11:g.17506248A>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Val175Met	rs7946	missense variant	-	NC_000017.11:g.17506246C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala176Thr	rs1475609173	missense variant	-	NC_000017.11:g.17506243C>T	gnomAD
PEMT	Q9UBM1	p.Leu177Phe	rs1256891212	missense variant	-	NC_000017.11:g.17506240G>A	gnomAD
PEMT	Q9UBM1	p.Leu177Pro	rs530726227	missense variant	-	NC_000017.11:g.17506239A>G	1000Genomes,ExAC,gnomAD
PEMT	Q9UBM1	p.Glu180Lys	rs376787997	missense variant	-	NC_000017.11:g.17506231C>T	ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Glu181Gln	rs773162423	missense variant	-	NC_000017.11:g.17506228C>G	ExAC,gnomAD
PEMT	Q9UBM1	p.Pro182Ser	rs777982658	missense variant	-	NC_000017.11:g.17505847G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Pro182Arg	rs1194684748	missense variant	-	NC_000017.11:g.17505846G>C	gnomAD
PEMT	Q9UBM1	p.Thr184Ile	rs772103277	missense variant	-	NC_000017.11:g.17505840G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala185Thr	rs375372363	missense variant	-	NC_000017.11:g.17505838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Glu186Ala	rs1307640473	missense variant	-	NC_000017.11:g.17505834T>G	TOPMed,gnomAD
PEMT	Q9UBM1	p.Ile187Val	rs757489116	missense variant	-	NC_000017.11:g.17505832T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Arg189Trp	rs140621950	missense variant	-	NC_000017.11:g.17505826G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg189Leu	rs147868279	missense variant	-	NC_000017.11:g.17505825C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Arg189Gln	rs147868279	missense variant	-	NC_000017.11:g.17505825C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PEMT	Q9UBM1	p.Ala192Val	rs768106458	missense variant	-	NC_000017.11:g.17505816G>A	ExAC,gnomAD
PEMT	Q9UBM1	p.Ala192Gly	rs768106458	missense variant	-	NC_000017.11:g.17505816G>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Gly194Val	rs1368492898	missense variant	-	NC_000017.11:g.17505810C>A	TOPMed,gnomAD
PEMT	Q9UBM1	p.Gly194Arg	rs70965427	missense variant	-	NC_000017.11:g.17505811C>T	1000Genomes,ESP,TOPMed,gnomAD
PEMT	Q9UBM1	p.Lys197Glu	rs749935587	missense variant	-	NC_000017.11:g.17505802T>C	ExAC,gnomAD
PEMT	Q9UBM1	p.Ser199Asn	rs761459437	missense variant	-	NC_000017.11:g.17505795C>T	ExAC,gnomAD
PEMT	Q9UBM1	p.Ser199Cys	rs764861768	missense variant	-	NC_000017.11:g.17505796T>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met1Val	RCV000224026	missense variant	-	NC_000011.10:g.71444952T>C	ClinVar
DHCR7	Q9UBM7	p.Met1Val	RCV000169384	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444952T>C	ClinVar
DHCR7	Q9UBM7	p.Met1Ile	RCV000169218	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444950C>T	ClinVar
DHCR7	Q9UBM7	p.Ala2Ser	rs1393635021	missense variant	-	NC_000011.10:g.71444949C>A	gnomAD
DHCR7	Q9UBM7	p.Ala3Thr	rs1157310044	missense variant	-	NC_000011.10:g.71444946C>T	TOPMed
DHCR7	Q9UBM7	p.Ser5Leu	rs1127869	missense variant	-	NC_000011.10:g.71444939G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser5Leu	rs1127869	missense variant	-	NC_000011.10:g.71444939G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Ser5Leu	VAR_067456	missense variant	-	NC_000011.10:g.71444939G>A	UniProt
DHCR7	Q9UBM7	p.Ser5Trp	rs1127869	missense variant	-	NC_000011.10:g.71444939G>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser5Leu	RCV000675039	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444939G>A	ClinVar
DHCR7	Q9UBM7	p.Gln6Ter	rs1057516977	stop gained	-	NC_000011.10:g.71444937G>A	gnomAD
DHCR7	Q9UBM7	p.Gln6Ter	RCV000411661	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444937G>A	ClinVar
DHCR7	Q9UBM7	p.Asn8Asp	rs1205809191	missense variant	-	NC_000011.10:g.71444931T>C	gnomAD
DHCR7	Q9UBM7	p.Asn8Ser	rs756194690	missense variant	-	NC_000011.10:g.71444930T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile9Phe	rs115595829	missense variant	-	NC_000011.10:g.71444928T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile9Val	rs115595829	missense variant	-	NC_000011.10:g.71444928T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile9Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71444927A>T	NCI-TCGA
DHCR7	Q9UBM7	p.Ile9Phe	RCV000514501	missense variant	-	NC_000011.10:g.71444928T>A	ClinVar
DHCR7	Q9UBM7	p.Pro10Ala	rs139166382	missense variant	-	NC_000011.10:g.71444925G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro10Ala	RCV000177130	missense variant	-	NC_000011.10:g.71444925G>C	ClinVar
DHCR7	Q9UBM7	p.Ala12Val	rs1279200193	missense variant	-	NC_000011.10:g.71444918G>A	gnomAD
DHCR7	Q9UBM7	p.Lys13Arg	rs764925295	missense variant	-	NC_000011.10:g.71444915T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys13Glu	rs1440025932	missense variant	-	NC_000011.10:g.71444916T>C	gnomAD
DHCR7	Q9UBM7	p.Asp16Gly	rs1240758105	missense variant	-	NC_000011.10:g.71444906T>C	gnomAD
DHCR7	Q9UBM7	p.Asp16His	rs1286169625	missense variant	-	NC_000011.10:g.71444907C>G	TOPMed
DHCR7	Q9UBM7	p.Asp16Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71444906T>A	NCI-TCGA
DHCR7	Q9UBM7	p.Val18Phe	rs770947907	missense variant	-	NC_000011.10:g.71444901C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val18Ile	rs770947907	missense variant	-	NC_000011.10:g.71444901C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn20Lys	rs771795285	missense variant	-	NC_000011.10:g.71444893A>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asn20Asp	rs772572550	missense variant	-	NC_000011.10:g.71444895T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn20Ser	rs1425357779	missense variant	-	NC_000011.10:g.71444894T>C	gnomAD
DHCR7	Q9UBM7	p.Asn20Asp	RCV000756011	missense variant	-	NC_000011.10:g.71444895T>C	ClinVar
DHCR7	Q9UBM7	p.Asp21His	COSM6134312	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71444892C>G	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Thr23Ser	rs1253314771	missense variant	-	NC_000011.10:g.71444885G>C	gnomAD
DHCR7	Q9UBM7	p.Thr23Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71444886T>C	NCI-TCGA
DHCR7	Q9UBM7	p.Ala24Thr	rs146867923	missense variant	-	NC_000011.10:g.71444883C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala24Glu	rs530687139	missense variant	-	NC_000011.10:g.71444882G>T	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala24Ser	rs146867923	missense variant	-	NC_000011.10:g.71444883C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala24Val	rs530687139	missense variant	-	NC_000011.10:g.71444882G>A	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala24Ser	RCV000380891	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444883C>A	ClinVar
DHCR7	Q9UBM7	p.Gly27Arg	rs780570846	missense variant	-	NC_000011.10:g.71444874C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gln28Ter	rs756564881	stop gained	-	NC_000011.10:g.71444871G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gln28Ter	RCV000411258	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444871G>A	ClinVar
DHCR7	Q9UBM7	p.Gln28His	RCV000336499	missense variant	-	NC_000011.10:g.71444869C>A	ClinVar
DHCR7	Q9UBM7	p.Gln28His	rs372855459	missense variant	-	NC_000011.10:g.71444869C>A	ESP,ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly30Asp	rs200334114	missense variant	-	NC_000011.10:g.71444864C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly30Ser	rs1222259994	missense variant	-	NC_000011.10:g.71444865C>T	gnomAD
DHCR7	Q9UBM7	p.Gly30Ala	rs200334114	missense variant	-	NC_000011.10:g.71444864C>G	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly30Ala	RCV000449598	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444864C>G	ClinVar
DHCR7	Q9UBM7	p.Arg31His	rs370307688	missense variant	-	NC_000011.10:g.71444861C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg31Cys	rs367585401	missense variant	-	NC_000011.10:g.71444862G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg31His	RCV000594191	missense variant	-	NC_000011.10:g.71444861C>T	ClinVar
DHCR7	Q9UBM7	p.Arg31Cys	RCV000681774	missense variant	-	NC_000011.10:g.71444862G>A	ClinVar
DHCR7	Q9UBM7	p.Arg31Ser	rs367585401	missense variant	-	NC_000011.10:g.71444862G>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp37Arg	rs1193320383	missense variant	-	NC_000011.10:g.71444205A>G	gnomAD
DHCR7	Q9UBM7	p.Trp37Cys	rs750345068	missense variant	-	NC_000011.10:g.71444203C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp37Ter	rs750345068	stop gained	-	NC_000011.10:g.71444203C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp37Ter	RCV000169596	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444203C>T	ClinVar
DHCR7	Q9UBM7	p.Ser39Leu	rs1467346010	missense variant	-	NC_000011.10:g.71444198G>A	gnomAD
DHCR7	Q9UBM7	p.Ala41Val	rs761265690	missense variant	-	NC_000011.10:g.71444192G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala41Val	RCV000706484	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444192G>A	ClinVar
DHCR7	Q9UBM7	p.Ala41Val	RCV000307109	missense variant	-	NC_000011.10:g.71444192G>A	ClinVar
DHCR7	Q9UBM7	p.Ala41Val	RCV000717334	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71444192G>A	ClinVar
DHCR7	Q9UBM7	p.Val43Ile	rs200984695	missense variant	-	NC_000011.10:g.71444187C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile44Thr	rs142897396	missense variant	-	NC_000011.10:g.71444183A>G	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile44Thr	RCV000333892	missense variant	-	NC_000011.10:g.71444183A>G	ClinVar
DHCR7	Q9UBM7	p.Leu46Arg	rs746175164	missense variant	-	NC_000011.10:g.71444177A>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu47Pro	rs1365132949	missense variant	-	NC_000011.10:g.71444174A>G	gnomAD
DHCR7	Q9UBM7	p.Leu47Val	rs140721259	missense variant	-	NC_000011.10:g.71444175G>C	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala50Asp	rs104886034	missense variant	-	NC_000011.10:g.71444165G>T	gnomAD
DHCR7	Q9UBM7	p.Ala50Ser	rs747103823	missense variant	-	NC_000011.10:g.71444166C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala50Val	rs104886034	missense variant	-	NC_000011.10:g.71444165G>A	gnomAD
DHCR7	Q9UBM7	p.Ala50Thr	rs747103823	missense variant	-	NC_000011.10:g.71444166C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro51Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71444163G>C	NCI-TCGA
DHCR7	Q9UBM7	p.Pro51Ser	rs104886035	missense variant	-	NC_000011.10:g.71444163G>A	TOPMed
DHCR7	Q9UBM7	p.Pro51Ser	RCV000178160	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444163G>A	ClinVar
DHCR7	Q9UBM7	p.Pro51Ser	RCV000079646	missense variant	-	NC_000011.10:g.71444163G>A	ClinVar
DHCR7	Q9UBM7	p.Phe52Leu	rs758757355	missense variant	-	NC_000011.10:g.71444158G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile53Val	rs1186653102	missense variant	-	NC_000011.10:g.71444157T>C	TOPMed
DHCR7	Q9UBM7	p.Val54Ile	rs779222334	missense variant	-	NC_000011.10:g.71444154C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val54Ile	RCV000674781	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444154C>T	ClinVar
DHCR7	Q9UBM7	p.Tyr55Ter	rs374941029	stop gained	-	NC_000011.10:g.71444149G>C	ESP,ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr56Asn	rs1480350925	missense variant	-	NC_000011.10:g.71444148A>T	gnomAD
DHCR7	Q9UBM7	p.Tyr56Ter	rs1178953604	stop gained	-	NC_000011.10:g.71444146G>T	TOPMed
DHCR7	Q9UBM7	p.Phe57Val	rs1231628274	missense variant	-	NC_000011.10:g.71444145A>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe57Leu	rs1231628274	missense variant	-	NC_000011.10:g.71444145A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe57Tyr	rs1207948894	missense variant	-	NC_000011.10:g.71444144A>T	gnomAD
DHCR7	Q9UBM7	p.Ile58Phe	rs104886032	missense variant	-	NC_000011.10:g.71444142T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile58Val	rs104886032	missense variant	-	NC_000011.10:g.71444142T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala60Val	rs1232635305	missense variant	-	NC_000011.10:g.71444135G>A	gnomAD
DHCR7	Q9UBM7	p.Cys61Phe	rs761788547	missense variant	-	NC_000011.10:g.71444132C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asp62Val	rs104886037	missense variant	-	NC_000011.10:g.71444129T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gln63Ter	rs1372014207	stop gained	-	NC_000011.10:g.71444127G>A	gnomAD
DHCR7	Q9UBM7	p.Gln63His	rs1044482	missense variant	-	NC_000011.10:g.71444125C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala67Thr	rs143999854	missense variant	-	NC_000011.10:g.71444115C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala67Ser	rs143999854	missense variant	-	NC_000011.10:g.71444115C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala67Thr	RCV000079648	missense variant	-	NC_000011.10:g.71444115C>T	ClinVar
DHCR7	Q9UBM7	p.Gly70Ser	rs144512551	missense variant	-	NC_000011.10:g.71444106C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly70Ser	RCV000153144	missense variant	-	NC_000011.10:g.71444106C>T	ClinVar
DHCR7	Q9UBM7	p.Gly70Arg	rs144512551	missense variant	-	NC_000011.10:g.71444106C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro71Ser	rs1177091875	missense variant	-	NC_000011.10:g.71444103G>A	gnomAD
DHCR7	Q9UBM7	p.Asp74Ala	rs374874199	missense variant	-	NC_000011.10:g.71444093T>G	ESP
DHCR7	Q9UBM7	p.Asp74Asn	rs773481689	missense variant	-	NC_000011.10:g.71444094C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asp74Glu	rs183441430	missense variant	-	NC_000011.10:g.71444092G>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile75Phe	rs370748173	missense variant	-	NC_000011.10:g.71444091T>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile75Phe	RCV000178161	missense variant	-	NC_000011.10:g.71444091T>A	ClinVar
DHCR7	Q9UBM7	p.Ile75Phe	RCV000706474	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444091T>A	ClinVar
DHCR7	Q9UBM7	p.Val76Ile	rs368473756	missense variant	-	NC_000011.10:g.71444088C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr77Ile	rs781010025	missense variant	-	NC_000011.10:g.71444084G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly78Arg	rs373352413	missense variant	-	NC_000011.10:g.71444082C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly78Glu	RCV000732495	missense variant	-	NC_000011.10:g.71444081C>T	ClinVar
DHCR7	Q9UBM7	p.Gly78Arg	RCV000672218	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444082C>T	ClinVar
DHCR7	Q9UBM7	p.Arg81Gln	rs752153214	missense variant	-	NC_000011.10:g.71444072C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg81Trp	RCV000277230	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444073G>A	ClinVar
DHCR7	Q9UBM7	p.Arg81Trp	rs775735710	missense variant	-	NC_000011.10:g.71444073G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg81Gly	rs775735710	missense variant	-	NC_000011.10:g.71444073G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg81Trp	RCV000730759	missense variant	-	NC_000011.10:g.71444073G>A	ClinVar
DHCR7	Q9UBM7	p.Ser83Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71444067A>C	NCI-TCGA
DHCR7	Q9UBM7	p.Ser83Leu	rs764847274	missense variant	-	NC_000011.10:g.71444066G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asp84Gly	rs776923495	missense variant	-	NC_000011.10:g.71444063T>C	ExAC
DHCR7	Q9UBM7	p.Thr89Ala	rs375997113	missense variant	-	NC_000011.10:g.71444049T>C	ESP,TOPMed
DHCR7	Q9UBM7	p.Thr89Ser	rs375997113	missense variant	-	NC_000011.10:g.71444049T>A	ESP,TOPMed
DHCR7	Q9UBM7	p.Pro90Ser	rs773862228	missense variant	-	NC_000011.10:g.71444046G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Pro91Ser	rs1410107835	missense variant	-	NC_000011.10:g.71444043G>A	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro91Leu	rs1161391135	missense variant	-	NC_000011.10:g.71444042G>A	gnomAD
DHCR7	Q9UBM7	p.Thr93Met	rs80338853	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71444036G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr93Met	rs80338853	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444036G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Thr93Met	VAR_012718	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444036G>A	UniProt
DHCR7	Q9UBM7	p.Thr93Met	rs80338853	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71444036G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr93Met	RCV000454251	missense variant	-	NC_000011.10:g.71444036G>A	ClinVar
DHCR7	Q9UBM7	p.Arg94Ser	rs541593878	missense variant	-	NC_000011.10:g.71444032C>A	gnomAD
DHCR7	Q9UBM7	p.Ala96Val	rs1348232298	missense variant	-	NC_000011.10:g.71444027G>A	TOPMed
DHCR7	Q9UBM7	p.Ala97Thr	rs150563256	missense variant	-	NC_000011.10:g.71444025C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala97Thr	RCV000370999	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444025C>T	ClinVar
DHCR7	Q9UBM7	p.Gln98Ter	rs104886039	stop gained	-	NC_000011.10:g.71444022G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gln98Ter	RCV000489856	nonsense	-	NC_000011.10:g.71444022G>A	ClinVar
DHCR7	Q9UBM7	p.Leu99Pro	rs104886041	missense variant	-	NC_000011.10:g.71444018A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu99Pro	RCV000756013	missense variant	-	NC_000011.10:g.71444018A>G	ClinVar
DHCR7	Q9UBM7	p.Leu99Pro	RCV000668709	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444018A>G	ClinVar
DHCR7	Q9UBM7	p.Tyr100Asn	COSM3452916	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71444016A>T	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Thr101Ile	rs1292543464	missense variant	-	NC_000011.10:g.71444012G>A	gnomAD
DHCR7	Q9UBM7	p.Leu102Ser	rs1342235041	missense variant	-	NC_000011.10:g.71444009A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu102Phe	rs1313146591	missense variant	-	NC_000011.10:g.71444008C>G	gnomAD
DHCR7	Q9UBM7	p.Val104Phe	rs1340032271	missense variant	-	NC_000011.10:g.71444004C>A	gnomAD
DHCR7	Q9UBM7	p.Thr105Asn	rs1381454160	missense variant	-	NC_000011.10:g.71444000G>T	gnomAD
DHCR7	Q9UBM7	p.Gln107His	rs104886040	missense variant	-	NC_000011.10:g.71443993C>G	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu109Pro	rs121912195	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Leu109Pro	VAR_023150	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	UniProt
DHCR7	Q9UBM7	p.Leu109Pro	rs121912195	missense variant	-	NC_000011.10:g.71442349A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu109Pro	RCV000665858	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	ClinVar
DHCR7	Q9UBM7	p.Tyr111Cys	rs1358554992	missense variant	-	NC_000011.10:g.71442343T>C	TOPMed
DHCR7	Q9UBM7	p.Thr112Arg	rs770040020	missense variant	-	NC_000011.10:g.71442340G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr112Met	rs770040020	missense variant	-	NC_000011.10:g.71442340G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser113Cys	VAR_023151	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Pro115Ser	rs981021248	missense variant	-	NC_000011.10:g.71442332G>A	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro115Thr	rs981021248	missense variant	-	NC_000011.10:g.71442332G>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro115Leu	rs1170473492	missense variant	-	NC_000011.10:g.71442331G>A	gnomAD
DHCR7	Q9UBM7	p.Cys118Arg	VAR_074180	Missense	-	-	UniProt
DHCR7	Q9UBM7	p.His119Arg	rs28938174	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71442319T>C	TOPMed
DHCR7	Q9UBM7	p.His119Leu	rs28938174	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71442319T>A	TOPMed
DHCR7	Q9UBM7	p.His119Tyr	rs1180916134	missense variant	-	NC_000011.10:g.71442320G>A	gnomAD
DHCR7	Q9UBM7	p.His119Asp	COSM467368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71442320G>C	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.His119Arg	RCV000624580	missense variant	Inborn genetic diseases	NC_000011.10:g.71442319T>C	ClinVar
DHCR7	Q9UBM7	p.His119Leu	RCV000274996	missense variant	-	NC_000011.10:g.71442319T>A	ClinVar
DHCR7	Q9UBM7	p.His119Leu	RCV000007182	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442319T>A	ClinVar
DHCR7	Q9UBM7	p.Lys120Glu	rs771866134	missense variant	-	NC_000011.10:g.71442317T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro123Leu	rs1205519483	missense variant	-	NC_000011.10:g.71442307G>A	gnomAD
DHCR7	Q9UBM7	p.Gly124Arg	rs748879289	missense variant	-	NC_000011.10:g.71442305C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly124Ser	rs748879289	missense variant	-	NC_000011.10:g.71442305C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val126Ile	rs143587828	missense variant	-	NC_000011.10:g.71442299C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val126Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71442299C>A	NCI-TCGA
DHCR7	Q9UBM7	p.Val126Ile	RCV000178841	missense variant	-	NC_000011.10:g.71442299C>T	ClinVar
DHCR7	Q9UBM7	p.Val126Ile	RCV000297594	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442299C>T	ClinVar
DHCR7	Q9UBM7	p.Val126Ile	RCV000717845	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71442299C>T	ClinVar
DHCR7	Q9UBM7	p.Gly128Asp	rs1287803816	missense variant	-	NC_000011.10:g.71442292C>T	gnomAD
DHCR7	Q9UBM7	p.Ile129Thr	rs757703242	missense variant	-	NC_000011.10:g.71442289A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile129Leu	rs138215017	missense variant	-	NC_000011.10:g.71442290T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile129Val	rs138215017	missense variant	-	NC_000011.10:g.71442290T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly132Arg	rs1414500492	missense variant	-	NC_000011.10:g.71442281C>T	gnomAD
DHCR7	Q9UBM7	p.Gly132Glu	rs751818759	missense variant	-	NC_000011.10:g.71442280C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala133Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71442277G>A	NCI-TCGA
DHCR7	Q9UBM7	p.Ala133Thr	rs763333510	missense variant	-	NC_000011.10:g.71442278C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala133Thr	RCV000674190	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442278C>T	ClinVar
DHCR7	Q9UBM7	p.Val134Met	rs201466849	missense variant	-	NC_000011.10:g.71442275C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val134Leu	RCV000079653	missense variant	-	NC_000011.10:g.71442275C>A	ClinVar
DHCR7	Q9UBM7	p.Val134Leu	rs201466849	missense variant	-	NC_000011.10:g.71442275C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val134Leu	RCV000674435	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442275C>A	ClinVar
DHCR7	Q9UBM7	p.Thr135Ile	COSM4946699	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71442271G>A	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Pro136Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71442268G>A	NCI-TCGA
DHCR7	Q9UBM7	p.Ala137Ser	rs563056315	missense variant	-	NC_000011.10:g.71442266C>A	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly138Val	VAR_023152	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Val139Ile	rs769816544	missense variant	-	NC_000011.10:g.71441438C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val139Gly	rs1405934579	missense variant	-	NC_000011.10:g.71441437A>C	gnomAD
DHCR7	Q9UBM7	p.Val140Met	rs373908315	missense variant	-	NC_000011.10:g.71441435C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys142Glu	rs1441002815	missense variant	-	NC_000011.10:g.71441429T>C	gnomAD
DHCR7	Q9UBM7	p.Tyr143Ter	RCV000760785	nonsense	-	NC_000011.10:g.71441424A>C	ClinVar
DHCR7	Q9UBM7	p.Tyr143Ter	rs1393186135	stop gained	-	NC_000011.10:g.71441424A>C	gnomAD
DHCR7	Q9UBM7	p.Gln144Arg	rs776246504	missense variant	-	NC_000011.10:g.71441422T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile145Leu	rs1555146475	missense variant	-	NC_000011.10:g.71441420T>G	-
DHCR7	Q9UBM7	p.Ile145Leu	rs1555146475	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Ile145Leu	VAR_023153	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	UniProt
DHCR7	Q9UBM7	p.Ile145Leu	RCV000674923	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	ClinVar
DHCR7	Q9UBM7	p.Asn146Lys	rs949177	missense variant	-	NC_000011.10:g.71441415A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn146Lys	rs949177	missense variant	-	NC_000011.10:g.71441415A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn146Lys	RCV000779078	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441415A>C	ClinVar
DHCR7	Q9UBM7	p.Gly147Asp	rs777425801	missense variant	-	NC_000011.10:g.71441413C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly147Asp	rs777425801	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly147Asp	VAR_023154	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	UniProt
DHCR7	Q9UBM7	p.Gly147Ser	rs1248898751	missense variant	-	NC_000011.10:g.71441414C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly147Asp	RCV000421810	missense variant	-	NC_000011.10:g.71441413C>T	ClinVar
DHCR7	Q9UBM7	p.Gly147Asp	RCV000665794	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	ClinVar
DHCR7	Q9UBM7	p.Leu148Pro	rs1401635626	missense variant	-	NC_000011.10:g.71441410A>G	TOPMed
DHCR7	Q9UBM7	p.Trp151Ter	rs104894213	stop gained	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71441400C>T	-
DHCR7	Q9UBM7	p.Trp151Ser	rs11555217	missense variant	-	NC_000011.10:g.71441401C>G	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp151Ter	rs11555217	stop gained	-	NC_000011.10:g.71441401C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp151Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71441402A>T	NCI-TCGA
DHCR7	Q9UBM7	p.Trp151Ter	RCV000020436	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441401C>T	ClinVar
DHCR7	Q9UBM7	p.Trp151Ter	RCV000079655	nonsense	-	NC_000011.10:g.71441401C>T	ClinVar
DHCR7	Q9UBM7	p.Trp151Ter	RCV000007186	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441400C>T	ClinVar
DHCR7	Q9UBM7	p.Trp151Ter	RCV000414879	nonsense	-	NC_000011.10:g.71441401C>T	ClinVar
DHCR7	Q9UBM7	p.Thr154Met	rs143312232	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Thr154Met	VAR_023155	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	UniProt
DHCR7	Q9UBM7	p.Thr154Met	rs143312232	missense variant	-	NC_000011.10:g.71441392G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr154Arg	rs143312232	missense variant	-	NC_000011.10:g.71441392G>C	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr154Met	RCV000169290	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	ClinVar
DHCR7	Q9UBM7	p.Thr154Ala	rs779417085	missense variant	-	NC_000011.10:g.71441393T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr154Arg	RCV000790776	missense variant	-	NC_000011.10:g.71441392G>C	ClinVar
DHCR7	Q9UBM7	p.Leu157Pro	RCV000724648	missense variant	-	NC_000011.10:g.71441383A>G	ClinVar
DHCR7	Q9UBM7	p.Leu157Pro	rs753960624	missense variant	-	NC_000011.10:g.71441383A>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp158Cys	rs766443353	missense variant	-	NC_000011.10:g.71441379C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp158Ter	rs1343783336	stop gained	-	NC_000011.10:g.71441380C>T	gnomAD
DHCR7	Q9UBM7	p.Phe159Leu	rs756416682	missense variant	-	NC_000011.10:g.71441378A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala160Thr	rs1364850343	missense variant	-	NC_000011.10:g.71441375C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala162Thr	rs767716202	missense variant	-	NC_000011.10:g.71441369C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala162Val	RCV000079656	missense variant	-	NC_000011.10:g.71441368G>A	ClinVar
DHCR7	Q9UBM7	p.Ala162Val	rs398123606	missense variant	-	NC_000011.10:g.71441368G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala162Val	RCV000717756	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71441368G>A	ClinVar
DHCR7	Q9UBM7	p.His163Arg	rs752494910	missense variant	-	NC_000011.10:g.71441365T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu164Ile	rs774978807	missense variant	-	NC_000011.10:g.71441363G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu164Phe	rs774978807	missense variant	-	NC_000011.10:g.71441363G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu164Val	rs774978807	missense variant	-	NC_000011.10:g.71441363G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp167Ser	rs776334336	missense variant	-	NC_000011.10:g.71441353C>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp167Cys	rs1427321619	missense variant	-	NC_000011.10:g.71441352C>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser169Leu	rs80338855	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441347G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Ser169Leu	VAR_023156	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441347G>A	UniProt
DHCR7	Q9UBM7	p.Ser169Leu	rs80338855	missense variant	-	NC_000011.10:g.71441347G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser169Trp	rs80338855	missense variant	-	NC_000011.10:g.71441347G>C	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser169Leu	RCV000756012	missense variant	-	NC_000011.10:g.71441347G>A	ClinVar
DHCR7	Q9UBM7	p.Pro170Leu	rs150459687	missense variant	-	NC_000011.10:g.71441344G>A	ESP,TOPMed
DHCR7	Q9UBM7	p.Pro170Arg	rs150459687	missense variant	-	NC_000011.10:g.71441344G>C	ESP,TOPMed
DHCR7	Q9UBM7	p.Ile172Val	rs748562900	missense variant	-	NC_000011.10:g.71441339T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile173Phe	rs779219548	missense variant	-	NC_000011.10:g.71441336T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Phe174Val	rs886044698	missense variant	-	NC_000011.10:g.71441333A>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe174Val	RCV000270483	missense variant	-	NC_000011.10:g.71441333A>C	ClinVar
DHCR7	Q9UBM7	p.Phe174Ser	RCV000670698	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441332A>G	ClinVar
DHCR7	Q9UBM7	p.Phe174Ser	rs769218623	missense variant	-	NC_000011.10:g.71441332A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asp175Asn	rs368269558	missense variant	-	NC_000011.10:g.71441330C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asp175Asn	RCV000665387	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441330C>T	ClinVar
DHCR7	Q9UBM7	p.Ile178Phe	rs1223603615	missense variant	-	NC_000011.10:g.71441321T>A	gnomAD
DHCR7	Q9UBM7	p.Ile178Phe	RCV000674760	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441321T>A	ClinVar
DHCR7	Q9UBM7	p.Pro179Leu	rs1555146436	missense variant	-	NC_000011.10:g.71441317G>A	-
DHCR7	Q9UBM7	p.Pro179Leu	RCV000672439	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441317G>A	ClinVar
DHCR7	Q9UBM7	p.Leu181Pro	rs1286409393	missense variant	-	NC_000011.10:g.71441311A>G	gnomAD
DHCR7	Q9UBM7	p.Trp182Ter	rs1032242817	stop gained	-	NC_000011.10:g.71441307C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp182Leu	rs536394774	missense variant	-	NC_000011.10:g.71441308C>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp182Leu	rs536394774	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441308C>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Trp182Leu	VAR_023158	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441308C>A	UniProt
DHCR7	Q9UBM7	p.Trp182Ter	RCV000761593	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441307C>T	ClinVar
DHCR7	Q9UBM7	p.Trp182Ter	rs536394774	stop gained	-	NC_000011.10:g.71441308C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp182Cys	VAR_023157	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Cys183Tyr	VAR_023159	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Ala184Thr	rs891223964	missense variant	-	NC_000011.10:g.71441303C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn185Ser	rs1177172403	missense variant	-	NC_000011.10:g.71441299T>C	gnomAD
DHCR7	Q9UBM7	p.Ile186Asn	rs1472308699	missense variant	-	NC_000011.10:g.71441296A>T	gnomAD
DHCR7	Q9UBM7	p.Ile186Met	rs757519627	missense variant	-	NC_000011.10:g.71441295G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu187Pro	RCV000715346	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71441293A>G	ClinVar
DHCR7	Q9UBM7	p.Leu187ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.71441290_71441293CCAA>-	NCI-TCGA
DHCR7	Q9UBM7	p.Leu187Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71441294G>C	NCI-TCGA
DHCR7	Q9UBM7	p.Gly188Val	rs1184941602	missense variant	-	NC_000011.10:g.71441290C>A	gnomAD
DHCR7	Q9UBM7	p.Ala190Val	rs752603560	missense variant	-	NC_000011.10:g.71441284G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Val191Ile	rs532635888	missense variant	-	NC_000011.10:g.71441282C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser192Pro	rs753830704	missense variant	-	NC_000011.10:g.71441279A>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser192Phe	rs766299724	missense variant	-	NC_000011.10:g.71441278G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala195Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71441269G>A	NCI-TCGA
DHCR7	Q9UBM7	p.Ala195Thr	rs151170252	missense variant	-	NC_000011.10:g.71441270C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met196Thr	rs142138656	missense variant	-	NC_000011.10:g.71441266A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met196Val	rs200474791	missense variant	-	NC_000011.10:g.71441267T>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys198Glu	VAR_023160	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Gly199Ser	COSM3870131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71441258C>T	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Phe201Cys	rs1478289787	missense variant	-	NC_000011.10:g.71441251A>C	gnomAD
DHCR7	Q9UBM7	p.Phe201Leu	rs774755673	missense variant	-	NC_000011.10:g.71441252A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Phe201Leu	rs377727130	missense variant	-	NC_000011.10:g.71441250G>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro203Ser	rs749591513	missense variant	-	NC_000011.10:g.71441246G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Pro203Leu	COSM3452908	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71441245G>A	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Ala206Thr	rs542744675	missense variant	-	NC_000011.10:g.71441237C>T	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg207Gly	rs1161545361	missense variant	-	NC_000011.10:g.71441234T>C	gnomAD
DHCR7	Q9UBM7	p.Arg207Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71441233C>A	NCI-TCGA
DHCR7	Q9UBM7	p.Arg207Lys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71441233C>T	NCI-TCGA
DHCR7	Q9UBM7	p.Cys209Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71441228A>T	NCI-TCGA
DHCR7	Q9UBM7	p.Cys209Ser	rs1236276448	missense variant	-	NC_000011.10:g.71441227C>G	TOPMed
DHCR7	Q9UBM7	p.Lys210Arg	rs1330568278	missense variant	-	NC_000011.10:g.71439081T>C	gnomAD
DHCR7	Q9UBM7	p.Lys210Glu	rs1401502860	missense variant	-	NC_000011.10:g.71439082T>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr212Ala	rs976105626	missense variant	-	NC_000011.10:g.71439076T>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr212Ile	rs1221743276	missense variant	-	NC_000011.10:g.71439075G>A	TOPMed
DHCR7	Q9UBM7	p.Thr212Pro	rs976105626	missense variant	-	NC_000011.10:g.71439076T>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly213Asp	RCV000674047	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439072C>T	ClinVar
DHCR7	Q9UBM7	p.Gly213Asp	rs769583377	missense variant	-	NC_000011.10:g.71439072C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn214Ser	rs1389034393	missense variant	-	NC_000011.10:g.71439069T>C	gnomAD
DHCR7	Q9UBM7	p.Phe215Leu	rs773048017	missense variant	-	NC_000011.10:g.71439065G>T	-
DHCR7	Q9UBM7	p.Phe216Val	rs1366802542	missense variant	-	NC_000011.10:g.71439064A>C	gnomAD
DHCR7	Q9UBM7	p.Phe216Leu	COSM3452904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71439062A>T	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Tyr217Ter	rs749076525	stop gained	-	NC_000011.10:g.71439059G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr217Ter	RCV000781323	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439059G>T	ClinVar
DHCR7	Q9UBM7	p.Tyr219Asp	rs779896782	missense variant	-	NC_000011.10:g.71439055A>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr219His	rs779896782	missense variant	-	NC_000011.10:g.71439055A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr219Ter	NCI-TCGA novel	stop gained	-	NC_000011.10:g.71439053G>T	NCI-TCGA
DHCR7	Q9UBM7	p.Tyr219Asp	RCV000668765	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439055A>C	ClinVar
DHCR7	Q9UBM7	p.Tyr219His	RCV000415359	missense variant	-	NC_000011.10:g.71439055A>G	ClinVar
DHCR7	Q9UBM7	p.Met220Leu	rs200659923	missense variant	-	NC_000011.10:g.71439052T>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met220Leu	rs200659923	missense variant	-	NC_000011.10:g.71439052T>G	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met220Ile	rs767377692	missense variant	-	NC_000011.10:g.71439050C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Met220Val	rs200659923	missense variant	-	NC_000011.10:g.71439052T>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met220Leu	RCV000335696	missense variant	-	NC_000011.10:g.71439052T>G	ClinVar
DHCR7	Q9UBM7	p.Met220Leu	RCV000597534	missense variant	-	NC_000011.10:g.71439052T>A	ClinVar
DHCR7	Q9UBM7	p.Met221Val	rs756795175	missense variant	-	NC_000011.10:g.71439049T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly222Asp	rs751026224	missense variant	-	NC_000011.10:g.71439045C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Glu224Lys	rs373121544	missense variant	-	NC_000011.10:g.71439040C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu224Lys	RCV000671914	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439040C>T	ClinVar
DHCR7	Q9UBM7	p.Glu224Lys	RCV000596201	missense variant	-	NC_000011.10:g.71439040C>T	ClinVar
DHCR7	Q9UBM7	p.Arg228Trp	rs775773057	missense variant	-	NC_000011.10:g.71439028G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg228Gln	rs201556114	missense variant	-	NC_000011.10:g.71439027C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg228Trp	RCV000674773	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439028G>A	ClinVar
DHCR7	Q9UBM7	p.Ile229Met	rs267603172	missense variant	-	NC_000011.10:g.71439023G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly230Arg	rs747133004	missense variant	-	NC_000011.10:g.71439022C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys231Arg	rs772491341	missense variant	-	NC_000011.10:g.71439018T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp232Arg	rs748390752	missense variant	-	NC_000011.10:g.71439016A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp232Leu	rs1404262569	missense variant	-	NC_000011.10:g.71439015C>A	gnomAD
DHCR7	Q9UBM7	p.Phe233Leu	rs1346625763	missense variant	-	NC_000011.10:g.71439013A>G	gnomAD
DHCR7	Q9UBM7	p.Asp234Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71439009T>G	NCI-TCGA
DHCR7	Q9UBM7	p.Phe235Ser	RCV000665754	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	ClinVar
DHCR7	Q9UBM7	p.Phe235Ser	rs1555146061	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Phe235Ser	VAR_023161	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	UniProt
DHCR7	Q9UBM7	p.Phe235Ser	rs1555146061	missense variant	-	NC_000011.10:g.71439006A>G	-
DHCR7	Q9UBM7	p.Asn240Ser	rs148609143	missense variant	-	NC_000011.10:g.71438991T>C	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn240Ser	RCV000763769	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438991T>C	ClinVar
DHCR7	Q9UBM7	p.Asn240Ser	RCV000717470	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71438991T>C	ClinVar
DHCR7	Q9UBM7	p.Asn240Ser	RCV000513933	missense variant	-	NC_000011.10:g.71438991T>C	ClinVar
DHCR7	Q9UBM7	p.Arg242His	rs80338857	missense variant	-	NC_000011.10:g.71438985C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg242His	rs80338857	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg242His	VAR_023163	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	UniProt
DHCR7	Q9UBM7	p.Arg242His	RCV000020439	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	ClinVar
DHCR7	Q9UBM7	p.Arg242Cys	rs80338856	missense variant	-	NC_000011.10:g.71438986G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg242Cys	rs80338856	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438986G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg242Cys	VAR_023162	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438986G>A	UniProt
DHCR7	Q9UBM7	p.Arg242Cys	RCV000389331	missense variant	-	NC_000011.10:g.71438986G>A	ClinVar
DHCR7	Q9UBM7	p.Pro243Ser	rs1329227520	missense variant	-	NC_000011.10:g.71438983G>A	TOPMed
DHCR7	Q9UBM7	p.Pro243Arg	RCV000674586	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438982G>C	ClinVar
DHCR7	Q9UBM7	p.Pro243Arg	rs777248132	missense variant	-	NC_000011.10:g.71438982G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly244Arg	rs121909764	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly244Arg	VAR_012722	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	UniProt
DHCR7	Q9UBM7	p.Gly244Arg	rs121909764	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71438980C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly244Arg	RCV000007183	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	ClinVar
DHCR7	Q9UBM7	p.Val246Ile	rs759967245	missense variant	-	NC_000011.10:g.71438974C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala247Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71438971C>G	NCI-TCGA
DHCR7	Q9UBM7	p.Ala247Thr	rs767031102	missense variant	-	NC_000011.10:g.71438971C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala247Ser	COSM6070094	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71438971C>A	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Ala247Val	RCV000670451	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438970G>A	ClinVar
DHCR7	Q9UBM7	p.Trp248Arg	rs886044494	missense variant	-	NC_000011.10:g.71438968A>G	gnomAD
DHCR7	Q9UBM7	p.Trp248Arg	RCV000339772	missense variant	-	NC_000011.10:g.71438968A>G	ClinVar
DHCR7	Q9UBM7	p.Trp248Cys	rs104894212	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71438966C>A	-
DHCR7	Q9UBM7	p.Trp248Cys	rs104894212	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Trp248Cys	VAR_012724	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	UniProt
DHCR7	Q9UBM7	p.Trp248Arg	RCV000671730	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438968A>G	ClinVar
DHCR7	Q9UBM7	p.Trp248Cys	RCV000007184	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	ClinVar
DHCR7	Q9UBM7	p.Leu250Val	rs772294537	missense variant	-	NC_000011.10:g.71438962G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile251Val	rs761732160	missense variant	-	NC_000011.10:g.71438959T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile251Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71438958A>T	NCI-TCGA
DHCR7	Q9UBM7	p.Asn252Ile	rs1186843944	missense variant	-	NC_000011.10:g.71438955T>A	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn252Ser	rs1186843944	missense variant	-	NC_000011.10:g.71438955T>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn252Lys	rs774666247	missense variant	-	NC_000011.10:g.71438954G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe255Leu	VAR_023164	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Ala256Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71438943G>A	NCI-TCGA
DHCR7	Q9UBM7	p.Ala256Thr	rs772639348	missense variant	-	NC_000011.10:g.71438944C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala256Ser	rs772639348	missense variant	-	NC_000011.10:g.71438944C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala257Val	RCV000674169	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438940G>A	ClinVar
DHCR7	Q9UBM7	p.Ala257Val	rs770925697	missense variant	-	NC_000011.10:g.71438940G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala257Gly	rs770925697	missense variant	-	NC_000011.10:g.71438940G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala257Val	RCV000623313	missense variant	Inborn genetic diseases	NC_000011.10:g.71438940G>A	ClinVar
DHCR7	Q9UBM7	p.Arg260Gly	rs777617141	missense variant	-	NC_000011.10:g.71438932G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg260Gln	rs551260416	missense variant	-	NC_000011.10:g.71438931C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg260Trp	rs777617141	missense variant	-	NC_000011.10:g.71438932G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg260Gly	RCV000297920	missense variant	-	NC_000011.10:g.71438932G>C	ClinVar
DHCR7	Q9UBM7	p.Glu261Lys	rs752096930	missense variant	-	NC_000011.10:g.71438929C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Glu261Ala	rs1406131499	missense variant	-	NC_000011.10:g.71438928T>G	gnomAD
DHCR7	Q9UBM7	p.Leu262Phe	rs754553051	missense variant	-	NC_000011.10:g.71438926G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu262Val	rs754553051	missense variant	-	NC_000011.10:g.71438926G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ser264Gly	rs766838675	missense variant	-	NC_000011.10:g.71438920T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.His265Arg	rs1042442188	missense variant	-	NC_000011.10:g.71438916T>C	TOPMed
DHCR7	Q9UBM7	p.Val266Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71438913A>G	NCI-TCGA
DHCR7	Q9UBM7	p.Asn268Ser	rs761064004	missense variant	-	NC_000011.10:g.71438907T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn268Ter	RCV000667454	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438908del	ClinVar
DHCR7	Q9UBM7	p.Asn268Ter	RCV000411261	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438906del	ClinVar
DHCR7	Q9UBM7	p.Asn268Lys	rs750973099	missense variant	-	NC_000011.10:g.71438906A>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala269Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71438904G>A	NCI-TCGA
DHCR7	Q9UBM7	p.Met270Thr	rs1353742919	missense variant	-	NC_000011.10:g.71438901A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met270Val	rs1555146021	missense variant	-	NC_000011.10:g.71438902T>C	-
DHCR7	Q9UBM7	p.Met270Val	RCV000672300	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438902T>C	ClinVar
DHCR7	Q9UBM7	p.Asn274Ser	rs774275482	missense variant	-	NC_000011.10:g.71438889T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn274Thr	rs774275482	missense variant	-	NC_000011.10:g.71438889T>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn274Lys	rs139787408	missense variant	-	NC_000011.10:g.71438888G>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val275Ala	rs1354657059	missense variant	-	NC_000011.10:g.71438886A>G	gnomAD
DHCR7	Q9UBM7	p.Val275Ile	rs775628929	missense variant	-	NC_000011.10:g.71438887C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu276Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71438884G>T	NCI-TCGA
DHCR7	Q9UBM7	p.Gln277Ter	rs1383142169	stop gained	-	NC_000011.10:g.71438881G>A	gnomAD
DHCR7	Q9UBM7	p.Ala278Val	rs1343520903	missense variant	-	NC_000011.10:g.71437942G>A	gnomAD
DHCR7	Q9UBM7	p.Ile279Val	rs752010614	missense variant	-	NC_000011.10:g.71437940T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr280Ter	rs148468879	stop gained	-	NC_000011.10:g.71437935G>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr280Cys	rs121909766	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71437936T>C	-
DHCR7	Q9UBM7	p.Tyr280Cys	RCV000007192	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437936T>C	ClinVar
DHCR7	Q9UBM7	p.Val281Met	rs398123607	missense variant	-	NC_000011.10:g.71437934C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val281Met	RCV000624268	missense variant	Inborn genetic diseases	NC_000011.10:g.71437934C>T	ClinVar
DHCR7	Q9UBM7	p.Phe284Leu	rs184297154	missense variant	-	NC_000011.10:g.71437923G>T	1000Genomes
DHCR7	Q9UBM7	p.Trp286Ter	RCV000671381	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437917C>T	ClinVar
DHCR7	Q9UBM7	p.Trp286Ter	rs1555145877	stop gained	-	NC_000011.10:g.71437917C>T	-
DHCR7	Q9UBM7	p.Asn287Ser	rs765481717	missense variant	-	NC_000011.10:g.71437915T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asn287Lys	rs766495775	missense variant	-	NC_000011.10:g.71437914G>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn287Lys	RCV000675015	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437914G>T	ClinVar
DHCR7	Q9UBM7	p.Glu288Lys	rs565893436	missense variant	-	NC_000011.10:g.71437913C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu288Lys	RCV000674146	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437913C>T	ClinVar
DHCR7	Q9UBM7	p.Thr289Ile	rs121909765	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71437909G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr289Ile	rs121909765	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437909G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Thr289Ile	VAR_012725	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437909G>A	UniProt
DHCR7	Q9UBM7	p.Thr289Ile	rs121909765	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71437909G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr289Ile	RCV000412788	missense variant	-	NC_000011.10:g.71437909G>A	ClinVar
DHCR7	Q9UBM7	p.Trp290Ter	rs774187452	stop gained	-	NC_000011.10:g.71437905C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp290Ter	RCV000667799	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437905C>T	ClinVar
DHCR7	Q9UBM7	p.Tyr291Ter	RCV000667615	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437902del	ClinVar
DHCR7	Q9UBM7	p.Thr294Ile	rs1179380860	missense variant	-	NC_000011.10:g.71437894G>A	gnomAD
DHCR7	Q9UBM7	p.Ile295Thr	rs904279662	missense variant	-	NC_000011.10:g.71437891A>G	gnomAD
DHCR7	Q9UBM7	p.Ile295Val	rs201574502	missense variant	-	NC_000011.10:g.71437892T>C	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile297Leu	rs1085307926	missense variant	-	NC_000011.10:g.71437886T>G	-
DHCR7	Q9UBM7	p.Ile297Leu	RCV000489393	missense variant	-	NC_000011.10:g.71437886T>G	ClinVar
DHCR7	Q9UBM7	p.Ile297Thr	VAR_023166	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Cys298Ter	rs769639753	stop gained	-	NC_000011.10:g.71437881G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Cys298Ter	RCV000668079	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437881G>T	ClinVar
DHCR7	Q9UBM7	p.His299Tyr	rs745498103	missense variant	-	NC_000011.10:g.71437880G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.His299Arg	rs1224039430	missense variant	-	NC_000011.10:g.71437879T>C	gnomAD
DHCR7	Q9UBM7	p.His301Asn	rs1267495194	missense variant	-	NC_000011.10:g.71437874G>T	TOPMed
DHCR7	Q9UBM7	p.His301Arg	RCV000730533	missense variant	-	NC_000011.10:g.71437873T>C	ClinVar
DHCR7	Q9UBM7	p.Phe302Leu	rs80338858	missense variant	-	NC_000011.10:g.71437869G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe302Leu	RCV000020440	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437869G>C	ClinVar
DHCR7	Q9UBM7	p.Gly303Arg	RCV000724095	missense variant	-	NC_000011.10:g.71437868C>T	ClinVar
DHCR7	Q9UBM7	p.Gly303Trp	rs142808899	missense variant	-	NC_000011.10:g.71437868C>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly303Arg	rs142808899	missense variant	-	NC_000011.10:g.71437868C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr305Ter	rs1555145867	stop gained	-	NC_000011.10:g.71437860G>C	-
DHCR7	Q9UBM7	p.Tyr305Ter	RCV000672544	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437860G>C	ClinVar
DHCR7	Q9UBM7	p.Trp308Ter	rs1392920633	stop gained	-	NC_000011.10:g.71437851C>T	gnomAD
DHCR7	Q9UBM7	p.Trp308Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71437852C>A	NCI-TCGA
DHCR7	Q9UBM7	p.Asp310Asn	rs370955781	missense variant	-	NC_000011.10:g.71437847C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asp310Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71437845G>T	NCI-TCGA
DHCR7	Q9UBM7	p.Cys311Arg	rs1378799308	missense variant	-	NC_000011.10:g.71437844A>G	TOPMed
DHCR7	Q9UBM7	p.Cys311Gly	VAR_023167	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Cys311Tyr	VAR_023168	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Val312Ter	RCV000669792	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437841_71437842CA[1]	ClinVar
DHCR7	Q9UBM7	p.Trp313Ter	rs1555145862	stop gained	-	NC_000011.10:g.71437836C>T	-
DHCR7	Q9UBM7	p.Trp313Ter	RCV000664491	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437836C>T	ClinVar
DHCR7	Q9UBM7	p.Tyr316Cys	rs754992933	missense variant	-	NC_000011.10:g.71437828T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr318Phe	rs1457166572	missense variant	-	NC_000011.10:g.71437822T>A	gnomAD
DHCR7	Q9UBM7	p.Tyr318Asn	rs1177326550	missense variant	-	NC_000011.10:g.71437823A>T	gnomAD
DHCR7	Q9UBM7	p.Tyr318Ter	RCV000674698	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437825del	ClinVar
DHCR7	Q9UBM7	p.Thr319Arg	rs766583874	missense variant	-	NC_000011.10:g.71437819G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr319Ala	rs1362583959	missense variant	-	NC_000011.10:g.71437820T>C	gnomAD
DHCR7	Q9UBM7	p.Thr319Ala	RCV000674430	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437820T>C	ClinVar
DHCR7	Q9UBM7	p.Thr319Lys	rs766583874	missense variant	-	NC_000011.10:g.71437819G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr319Met	rs766583874	missense variant	-	NC_000011.10:g.71437819G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr319Met	RCV000780208	missense variant	-	NC_000011.10:g.71437819G>A	ClinVar
DHCR7	Q9UBM7	p.Gln321Leu	rs1255961569	missense variant	-	NC_000011.10:g.71437813T>A	gnomAD
DHCR7	Q9UBM7	p.Tyr324His	rs1173707321	missense variant	-	NC_000011.10:g.71435833A>G	gnomAD
DHCR7	Q9UBM7	p.Tyr324His	RCV000525900	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435833A>G	ClinVar
DHCR7	Q9UBM7	p.Val326Leu	rs80338859	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Val326Leu	VAR_012726	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	UniProt
DHCR7	Q9UBM7	p.Val326Leu	rs80338859	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435827C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val326Ala	rs1333822866	missense variant	-	NC_000011.10:g.71435826A>G	TOPMed
DHCR7	Q9UBM7	p.Val326Leu	RCV000007187	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	ClinVar
DHCR7	Q9UBM7	p.Tyr327Ter	rs1057516375	stop gained	-	NC_000011.10:g.71435822G>T	-
DHCR7	Q9UBM7	p.Tyr327Ter	RCV000411396	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435822G>T	ClinVar
DHCR7	Q9UBM7	p.His328Asp	rs775805851	missense variant	-	NC_000011.10:g.71435821G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.His328Gln	rs1157736816	missense variant	-	NC_000011.10:g.71435819G>T	gnomAD
DHCR7	Q9UBM7	p.Pro329Ser	rs1468426794	missense variant	-	NC_000011.10:g.71435818G>A	gnomAD
DHCR7	Q9UBM7	p.Pro329Leu	COSM3452900	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435817G>A	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Val330Met	rs139724817	missense variant	-	NC_000011.10:g.71435815C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val330Leu	rs139724817	missense variant	-	NC_000011.10:g.71435815C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val330Met	RCV000763768	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435815C>T	ClinVar
DHCR7	Q9UBM7	p.Val330Met	RCV000727172	missense variant	-	NC_000011.10:g.71435815C>T	ClinVar
DHCR7	Q9UBM7	p.Gln331Glu	rs1057516610	missense variant	-	NC_000011.10:g.71435812G>C	gnomAD
DHCR7	Q9UBM7	p.Gln331Ter	rs1057516610	stop gained	-	NC_000011.10:g.71435812G>A	gnomAD
DHCR7	Q9UBM7	p.Gln331Ter	RCV000409015	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435812G>A	ClinVar
DHCR7	Q9UBM7	p.Leu332Ter	RCV000411723	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435808del	ClinVar
DHCR7	Q9UBM7	p.Thr334Ala	rs757518371	missense variant	-	NC_000011.10:g.71435803T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr334Asn	rs748020179	missense variant	-	NC_000011.10:g.71435802G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr334Ile	rs748020179	missense variant	-	NC_000011.10:g.71435802G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Pro335Arg	rs77762671	missense variant	-	NC_000011.10:g.71435799G>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro335Ter	RCV000669414	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435802del	ClinVar
DHCR7	Q9UBM7	p.Pro335Leu	rs77762671	missense variant	-	NC_000011.10:g.71435799G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.His336Gln	rs75225632	missense variant	-	NC_000011.10:g.71435795G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala337Thr	rs749913821	missense variant	-	NC_000011.10:g.71435794C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Val338Met	rs72954276	missense variant	-	NC_000011.10:g.71435791C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val338Met	RCV000717914	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435791C>T	ClinVar
DHCR7	Q9UBM7	p.Val340Ile	RCV000551112	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435785C>T	ClinVar
DHCR7	Q9UBM7	p.Val340Ile	rs148081697	missense variant	-	NC_000011.10:g.71435785C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu341Pro	rs1317526744	missense variant	-	NC_000011.10:g.71435781A>G	gnomAD
DHCR7	Q9UBM7	p.Leu341Pro	RCV000666425	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435781A>G	ClinVar
DHCR7	Q9UBM7	p.Leu342Pro	rs199957106	missense variant	-	NC_000011.10:g.71435778A>G	1000Genomes
DHCR7	Q9UBM7	p.Leu342Pro	RCV000670470	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435778A>G	ClinVar
DHCR7	Q9UBM7	p.Gly344Asp	rs1409887214	missense variant	-	NC_000011.10:g.71435772C>T	gnomAD
DHCR7	Q9UBM7	p.Gly344Arg	VAR_023170	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Val346Glu	rs916217045	missense variant	-	NC_000011.10:g.71435766A>T	TOPMed
DHCR7	Q9UBM7	p.Gly347Val	rs770174208	missense variant	-	NC_000011.10:g.71435763C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr348Cys	rs1394025873	missense variant	-	NC_000011.10:g.71435760T>C	TOPMed
DHCR7	Q9UBM7	p.Ile350Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71435755T>C	NCI-TCGA
DHCR7	Q9UBM7	p.Phe351Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71435750G>C	NCI-TCGA
DHCR7	Q9UBM7	p.Arg352Leu	rs121909768	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435748C>A	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg352Gln	rs121909768	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435748C>T	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg352Gln	rs121909768	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg352Gln	VAR_023171	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	UniProt
DHCR7	Q9UBM7	p.Arg352Trp	rs80338860	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg352Trp	VAR_012727	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	UniProt
DHCR7	Q9UBM7	p.Arg352Trp	rs80338860	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435749G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg352Gln	RCV000254828	missense variant	-	NC_000011.10:g.71435748C>T	ClinVar
DHCR7	Q9UBM7	p.Arg352Gln	RCV000007197	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	ClinVar
DHCR7	Q9UBM7	p.Arg352Trp	RCV000007189	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	ClinVar
DHCR7	Q9UBM7	p.Arg352Trp	RCV000259783	missense variant	-	NC_000011.10:g.71435749G>A	ClinVar
DHCR7	Q9UBM7	p.Val353Met	rs1449289649	missense variant	-	NC_000011.10:g.71435746C>T	gnomAD
DHCR7	Q9UBM7	p.Val353Ter	RCV000666554	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748del	ClinVar
DHCR7	Q9UBM7	p.Val353Ala	VAR_023172	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Ala354Thr	rs571923299	missense variant	-	NC_000011.10:g.71435743C>T	1000Genomes,gnomAD
DHCR7	Q9UBM7	p.Asn355Asp	rs1309736876	missense variant	-	NC_000011.10:g.71435740T>C	TOPMed
DHCR7	Q9UBM7	p.His356Ter	RCV000409736	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435738del	ClinVar
DHCR7	Q9UBM7	p.Gln357His	rs768526200	missense variant	-	NC_000011.10:g.71435732C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Lys358Thr	rs1243340265	missense variant	-	NC_000011.10:g.71435730T>G	TOPMed
DHCR7	Q9UBM7	p.Leu360Pro	rs1555145619	missense variant	-	NC_000011.10:g.71435724A>G	-
DHCR7	Q9UBM7	p.Leu360Pro	RCV000668758	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435724A>G	ClinVar
DHCR7	Q9UBM7	p.Leu360Gln	COSM3398110	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435724A>T	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Phe361Leu	rs780088227	missense variant	-	NC_000011.10:g.71435720G>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe361Leu	RCV000292578	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435720G>T	ClinVar
DHCR7	Q9UBM7	p.Phe361Ter	RCV000410733	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435723_71435724del	ClinVar
DHCR7	Q9UBM7	p.Arg362His	rs142213147	missense variant	-	NC_000011.10:g.71435718C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg362Ser	rs371302153	missense variant	-	NC_000011.10:g.71435719G>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg362Cys	rs371302153	missense variant	-	NC_000011.10:g.71435719G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg362Leu	rs142213147	missense variant	-	NC_000011.10:g.71435718C>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg363Cys	rs547012639	missense variant	-	NC_000011.10:g.71435716G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg363His	rs200539324	missense variant	-	NC_000011.10:g.71435715C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg363Leu	rs200539324	missense variant	-	NC_000011.10:g.71435715C>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr364Ala	rs1085307925	missense variant	-	NC_000011.10:g.71435713T>C	-
DHCR7	Q9UBM7	p.Thr364Met	rs567600444	missense variant	-	NC_000011.10:g.71435712G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr364Met	RCV000731830	missense variant	-	NC_000011.10:g.71435712G>A	ClinVar
DHCR7	Q9UBM7	p.Thr364Met	RCV000386515	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435712G>A	ClinVar
DHCR7	Q9UBM7	p.Thr364Met	RCV000717252	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435712G>A	ClinVar
DHCR7	Q9UBM7	p.Thr364Met	RCV000503164	missense variant	-	NC_000011.10:g.71435712G>A	ClinVar
DHCR7	Q9UBM7	p.Thr364Ala	RCV000489040	missense variant	-	NC_000011.10:g.71435713T>C	ClinVar
DHCR7	Q9UBM7	p.Asp365Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71435710C>T	NCI-TCGA
DHCR7	Q9UBM7	p.Gly366Val	RCV000666844	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435706C>A	ClinVar
DHCR7	Q9UBM7	p.Gly366Val	rs1555145614	missense variant	-	NC_000011.10:g.71435706C>A	-
DHCR7	Q9UBM7	p.Arg367His	rs765908713	missense variant	-	NC_000011.10:g.71435703C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg367Cys	rs531038145	missense variant	-	NC_000011.10:g.71435704G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg367Cys	RCV000259933	missense variant	-	NC_000011.10:g.71435704G>A	ClinVar
DHCR7	Q9UBM7	p.Arg367Cys	RCV000719857	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435704G>A	ClinVar
DHCR7	Q9UBM7	p.Ile370Leu	rs1489954663	missense variant	-	NC_000011.10:g.71435695T>G	gnomAD
DHCR7	Q9UBM7	p.Ile370Thr	rs1371215955	missense variant	-	NC_000011.10:g.71435694A>G	TOPMed
DHCR7	Q9UBM7	p.Trp371Arg	rs1467146122	missense variant	-	NC_000011.10:g.71435692A>G	TOPMed
DHCR7	Q9UBM7	p.Trp371Ter	rs1294449428	stop gained	-	NC_000011.10:g.71435690C>T	gnomAD
DHCR7	Q9UBM7	p.Gly372Cys	rs760104729	missense variant	-	NC_000011.10:g.71435689C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly372Arg	rs760104729	missense variant	-	NC_000011.10:g.71435689C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly372Ser	rs760104729	missense variant	-	NC_000011.10:g.71435689C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg373Gly	rs1322012743	missense variant	-	NC_000011.10:g.71435686T>C	gnomAD
DHCR7	Q9UBM7	p.Lys376Arg	rs771137757	missense variant	-	NC_000011.10:g.71435676T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys376Glu	rs777218262	missense variant	-	NC_000011.10:g.71435677T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile378Met	rs773505265	missense variant	-	NC_000011.10:g.71435669G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile378Val	rs1278791188	missense variant	-	NC_000011.10:g.71435671T>C	gnomAD
DHCR7	Q9UBM7	p.Glu379Lys	rs772162793	missense variant	-	NC_000011.10:g.71435668C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Cys380Tyr	rs779709646	missense variant	-	NC_000011.10:g.71435664C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Cys380Phe	rs779709646	missense variant	-	NC_000011.10:g.71435664C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Cys380Arg	rs373306653	missense variant	-	NC_000011.10:g.71435665A>G	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Cys380Arg	rs373306653	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Cys380Arg	VAR_023174	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	UniProt
DHCR7	Q9UBM7	p.Cys380Ter	rs769783115	stop gained	-	NC_000011.10:g.71435663G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Cys380Arg	RCV000408382	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	ClinVar
DHCR7	Q9UBM7	p.Cys380Arg	RCV000725474	missense variant	-	NC_000011.10:g.71435665A>G	ClinVar
DHCR7	Q9UBM7	p.Cys380Tyr	RCV000169472	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435664C>T	ClinVar
DHCR7	Q9UBM7	p.Cys380Ser	VAR_012728	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Ser381Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71435661G>C	NCI-TCGA
DHCR7	Q9UBM7	p.Tyr382Ter	RCV000667423	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435657G>T	ClinVar
DHCR7	Q9UBM7	p.Tyr382Ter	rs1555145605	stop gained	-	NC_000011.10:g.71435657G>T	-
DHCR7	Q9UBM7	p.Thr383Ile	rs745820609	missense variant	-	NC_000011.10:g.71435655G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser384Cys	rs781043327	missense variant	-	NC_000011.10:g.71435652G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala385Thr	rs750989470	missense variant	-	NC_000011.10:g.71435650C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala385Gly	rs12577137	missense variant	-	NC_000011.10:g.71435649G>C	gnomAD
DHCR7	Q9UBM7	p.Ala385Val	rs12577137	missense variant	-	NC_000011.10:g.71435649G>A	gnomAD
DHCR7	Q9UBM7	p.Asp386Asn	rs369837196	missense variant	-	NC_000011.10:g.71435647C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asp386Glu	rs760241	missense variant	-	NC_000011.10:g.71435645A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly387Arg	rs765707139	missense variant	-	NC_000011.10:g.71435644C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly387Arg	rs765707139	missense variant	-	NC_000011.10:g.71435644C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg389Lys	rs755325060	missense variant	-	NC_000011.10:g.71435637C>T	ExAC,TOPMed
DHCR7	Q9UBM7	p.His390Arg	rs766943022	missense variant	-	NC_000011.10:g.71435634T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.His390Tyr	rs544442568	missense variant	-	NC_000011.10:g.71435635G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.His391Leu	rs1284886726	missense variant	-	NC_000011.10:g.71435631T>A	gnomAD
DHCR7	Q9UBM7	p.Val396Glu	rs760857590	missense variant	-	NC_000011.10:g.71435616A>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Val396Met	rs1011956734	missense variant	-	NC_000011.10:g.71435617C>T	TOPMed
DHCR7	Q9UBM7	p.Ser397Leu	rs773134475	missense variant	-	NC_000011.10:g.71435613G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe399Tyr	rs1205529414	missense variant	-	NC_000011.10:g.71435607A>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp400Leu	rs1057516493	missense variant	-	NC_000011.10:g.71435604C>A	TOPMed
DHCR7	Q9UBM7	p.Trp400Ter	rs1057516493	stop gained	-	NC_000011.10:g.71435604C>T	TOPMed
DHCR7	Q9UBM7	p.Trp400Ter	RCV000411064	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435604C>T	ClinVar
DHCR7	Q9UBM7	p.Gly401Ser	rs1401116131	missense variant	-	NC_000011.10:g.71435602C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val402Leu	rs200099137	missense variant	-	NC_000011.10:g.71435599C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val402Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71435599C>A	NCI-TCGA
DHCR7	Q9UBM7	p.Val402Met	rs200099137	missense variant	-	NC_000011.10:g.71435599C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala403Pro	rs969937612	missense variant	-	NC_000011.10:g.71435596C>G	TOPMed
DHCR7	Q9UBM7	p.Ala403Thr	rs969937612	missense variant	-	NC_000011.10:g.71435596C>T	TOPMed
DHCR7	Q9UBM7	p.Arg404Ser	rs61757582	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg404Ser	VAR_023177	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	UniProt
DHCR7	Q9UBM7	p.Arg404Gly	rs61757582	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435593G>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg404Cys	rs61757582	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg404Cys	VAR_012729	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	UniProt
DHCR7	Q9UBM7	p.Arg404Ser	RCV000668128	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	ClinVar
DHCR7	Q9UBM7	p.Arg404Ser	rs61757582	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435593G>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg404Cys	rs61757582	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435593G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg404Gly	RCV000674716	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>C	ClinVar
DHCR7	Q9UBM7	p.Arg404Cys	RCV000723830	missense variant	-	NC_000011.10:g.71435593G>A	ClinVar
DHCR7	Q9UBM7	p.Arg404Cys	RCV000007190	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	ClinVar
DHCR7	Q9UBM7	p.His405Gln	rs776577137	missense variant	-	NC_000011.10:g.71435588G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.His405Tyr	VAR_023178	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Asn407Lys	rs1481450955	missense variant	-	NC_000011.10:g.71435582G>T	gnomAD
DHCR7	Q9UBM7	p.Asn407Tyr	rs770819693	missense variant	-	NC_000011.10:g.71435584T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asn407Ser	rs746591926	missense variant	-	NC_000011.10:g.71435583T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr408His	rs1046560765	missense variant	-	NC_000011.10:g.71435581A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr408Cys	rs1219026826	missense variant	-	NC_000011.10:g.71435580T>C	gnomAD
DHCR7	Q9UBM7	p.Tyr408His	RCV000667912	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435581A>G	ClinVar
DHCR7	Q9UBM7	p.Val409Ile	rs757861528	missense variant	-	NC_000011.10:g.71435578C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val409Ile	RCV000597434	missense variant	-	NC_000011.10:g.71435578C>T	ClinVar
DHCR7	Q9UBM7	p.Gly410Ser	rs80338862	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly410Ser	VAR_012730	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>T	UniProt
DHCR7	Q9UBM7	p.Gly410Ser	rs80338862	missense variant	-	NC_000011.10:g.71435575C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly410Arg	rs80338862	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly410Arg	VAR_023180	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>G	UniProt
DHCR7	Q9UBM7	p.Gly410Arg	rs80338862	missense variant	-	NC_000011.10:g.71435575C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly410Ser	RCV000720023	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435575C>T	ClinVar
DHCR7	Q9UBM7	p.Gly410Ser	RCV000079640	missense variant	-	NC_000011.10:g.71435575C>T	ClinVar
DHCR7	Q9UBM7	p.Gly410Ser	RCV000020434	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>T	ClinVar
DHCR7	Q9UBM7	p.Asp411Asn	rs372055524	missense variant	-	NC_000011.10:g.71435572C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asp411Asn	RCV000666753	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435572C>T	ClinVar
DHCR7	Q9UBM7	p.Gly414Arg	rs755426995	missense variant	-	NC_000011.10:g.71435563C>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ser415Gly	rs754224400	missense variant	-	NC_000011.10:g.71435560T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala417Val	rs894897580	missense variant	-	NC_000011.10:g.71435553G>A	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr418Cys	rs1053502314	missense variant	-	NC_000011.10:g.71435550T>C	TOPMed
DHCR7	Q9UBM7	p.Cys422Arg	rs750582708	missense variant	-	NC_000011.10:g.71435539A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly423Ser	rs902179640	missense variant	-	NC_000011.10:g.71435536C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly423Ser	RCV000485125	missense variant	-	NC_000011.10:g.71435536C>T	ClinVar
DHCR7	Q9UBM7	p.Gly424Ser	rs368150818	missense variant	-	NC_000011.10:g.71435533C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly424Cys	rs368150818	missense variant	-	NC_000011.10:g.71435533C>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly424Ser	RCV000513082	missense variant	-	NC_000011.10:g.71435533C>T	ClinVar
DHCR7	Q9UBM7	p.Gly425Asp	rs1182384703	missense variant	-	NC_000011.10:g.71435529C>T	gnomAD
DHCR7	Q9UBM7	p.Gly425Ser	rs760242	missense variant	-	NC_000011.10:g.71435530C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly425Ser	VAR_052154	missense variant	-	NC_000011.10:g.71435530C>T	UniProt
DHCR7	Q9UBM7	p.Gly425Ser	rs760242	missense variant	-	NC_000011.10:g.71435530C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly425Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71435530C>A	NCI-TCGA
DHCR7	Q9UBM7	p.Gly425Ser	RCV000595632	missense variant	-	NC_000011.10:g.71435530C>T	ClinVar
DHCR7	Q9UBM7	p.Gly425Ser	RCV000316974	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435530C>T	ClinVar
DHCR7	Q9UBM7	p.His426Pro	rs1354718634	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435526T>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.His426Pro	VAR_023181	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435526T>G	UniProt
DHCR7	Q9UBM7	p.His426Pro	rs1354718634	missense variant	-	NC_000011.10:g.71435526T>G	TOPMed
DHCR7	Q9UBM7	p.His426Gln	rs770971876	missense variant	-	NC_000011.10:g.71435525G>T	ExAC
DHCR7	Q9UBM7	p.His426Tyr	rs776401706	missense variant	-	NC_000011.10:g.71435527G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.His426Pro	RCV000669736	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435526T>G	ClinVar
DHCR7	Q9UBM7	p.Leu427Met	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71435524G>T	NCI-TCGA
DHCR7	Q9UBM7	p.Leu428Val	rs1221791403	missense variant	-	NC_000011.10:g.71435521G>C	TOPMed
DHCR7	Q9UBM7	p.Pro429Leu	rs1449741699	missense variant	-	NC_000011.10:g.71435517G>A	TOPMed
DHCR7	Q9UBM7	p.Pro429Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71435518G>A	NCI-TCGA
DHCR7	Q9UBM7	p.Pro429Arg	rs1449741699	missense variant	-	NC_000011.10:g.71435517G>C	TOPMed
DHCR7	Q9UBM7	p.Tyr430Ter	rs140791666	stop gained	-	NC_000011.10:g.71435513G>C	ESP,ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr430Phe	rs1485535452	missense variant	-	NC_000011.10:g.71435514T>A	gnomAD
DHCR7	Q9UBM7	p.Phe431Leu	rs1217685553	missense variant	-	NC_000011.10:g.71435512A>G	gnomAD
DHCR7	Q9UBM7	p.Phe431Leu	COSM4036382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435510G>C	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Tyr432His	rs747656720	missense variant	-	NC_000011.10:g.71435509A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile433Val	rs1244124212	missense variant	-	NC_000011.10:g.71435506T>C	gnomAD
DHCR7	Q9UBM7	p.Ile434Val	rs375187933	missense variant	-	NC_000011.10:g.71435503T>C	ESP,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met436Val	rs1313621076	missense variant	-	NC_000011.10:g.71435497T>C	gnomAD
DHCR7	Q9UBM7	p.Ala437Thr	rs1382147285	missense variant	-	NC_000011.10:g.71435494C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile438Met	rs778750039	missense variant	-	NC_000011.10:g.71435489G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu440Val	rs1381722107	missense variant	-	NC_000011.10:g.71435485G>C	TOPMed
DHCR7	Q9UBM7	p.Leu440Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.71435484A>G	NCI-TCGA
DHCR7	Q9UBM7	p.Thr441Ser	rs749728888	missense variant	-	NC_000011.10:g.71435482T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr441Ile	rs1439949765	missense variant	-	NC_000011.10:g.71435481G>A	TOPMed
DHCR7	Q9UBM7	p.Arg443Leu	rs781687341	missense variant	-	NC_000011.10:g.71435475C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg443Cys	RCV000673491	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435476G>A	ClinVar
DHCR7	Q9UBM7	p.Arg443Cys	rs535561852	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435476G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg443Cys	VAR_023182	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435476G>A	UniProt
DHCR7	Q9UBM7	p.Arg443Cys	rs535561852	missense variant	-	NC_000011.10:g.71435476G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg443Pro	rs781687341	missense variant	-	NC_000011.10:g.71435475C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg443His	rs781687341	missense variant	-	NC_000011.10:g.71435475C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg443His	RCV000449623	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435475C>T	ClinVar
DHCR7	Q9UBM7	p.Leu445Phe	rs1369678480	missense variant	-	NC_000011.10:g.71435470G>A	gnomAD
DHCR7	Q9UBM7	p.Leu445Val	rs1369678480	missense variant	-	NC_000011.10:g.71435470G>C	gnomAD
DHCR7	Q9UBM7	p.Arg446Trp	rs145043679	missense variant	-	NC_000011.10:g.71435467G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg446Trp	RCV000666265	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435467G>A	ClinVar
DHCR7	Q9UBM7	p.Arg446Gln	rs751604696	missense variant	-	NC_000011.10:g.71435466C>T	ExAC,TOPMed
DHCR7	Q9UBM7	p.Arg446Gln	rs751604696	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435466C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg446Gln	VAR_023183	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435466C>T	UniProt
DHCR7	Q9UBM7	p.Arg446Gln	RCV000716262	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435466C>T	ClinVar
DHCR7	Q9UBM7	p.Asp447His	rs1427783663	missense variant	-	NC_000011.10:g.71435464C>G	gnomAD
DHCR7	Q9UBM7	p.Asp447Asn	rs1427783663	missense variant	-	NC_000011.10:g.71435464C>T	gnomAD
DHCR7	Q9UBM7	p.Asp447Glu	rs139721775	missense variant	-	NC_000011.10:g.71435462G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu448Gln	rs80338864	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Glu448Gln	VAR_023184	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>G	UniProt
DHCR7	Q9UBM7	p.Glu448Gln	rs80338864	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435461C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu448Lys	RCV000020435	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>T	ClinVar
DHCR7	Q9UBM7	p.Glu448Lys	rs80338864	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435461C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu448Lys	rs80338864	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Glu448Lys	VAR_016975	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>T	UniProt
DHCR7	Q9UBM7	p.Glu448Gln	RCV000670693	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>G	ClinVar
DHCR7	Q9UBM7	p.His449Tyr	rs758040709	missense variant	-	NC_000011.10:g.71435458G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg450Leu	rs542266962	missense variant	-	NC_000011.10:g.71435454C>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg450Leu	rs542266962	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435454C>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg450Leu	VAR_023185	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435454C>A	UniProt
DHCR7	Q9UBM7	p.Arg450His	rs542266962	missense variant	-	NC_000011.10:g.71435454C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg450His	RCV000718621	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435454C>T	ClinVar
DHCR7	Q9UBM7	p.Arg450Cys	rs765154144	missense variant	-	NC_000011.10:g.71435455G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg450Ter	RCV000725059	frameshift	-	NC_000011.10:g.71435456del	ClinVar
DHCR7	Q9UBM7	p.Arg450Ter	RCV000316051	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435456del	ClinVar
DHCR7	Q9UBM7	p.Arg450His	RCV000674850	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435454C>T	ClinVar
DHCR7	Q9UBM7	p.Cys451Arg	rs761458977	missense variant	-	NC_000011.10:g.71435452A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Cys451Tyr	rs1325144749	missense variant	-	NC_000011.10:g.71435451C>T	gnomAD
DHCR7	Q9UBM7	p.Ala452Thr	rs140400648	missense variant	-	NC_000011.10:g.71435449C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser453Thr	rs768489010	missense variant	-	NC_000011.10:g.71435445C>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly456Ser	rs201847193	missense variant	-	NC_000011.10:g.71435437C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly456Val	rs746201510	missense variant	-	NC_000011.10:g.71435436C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg457Gln	rs886043122	missense variant	-	NC_000011.10:g.71435433C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg457Trp	rs371873032	missense variant	-	NC_000011.10:g.71435434G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg457Gln	RCV000324086	missense variant	-	NC_000011.10:g.71435433C>T	ClinVar
DHCR7	Q9UBM7	p.Arg457Gln	RCV000763767	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435433C>T	ClinVar
DHCR7	Q9UBM7	p.Asp458Tyr	rs1473523418	missense variant	-	NC_000011.10:g.71435431C>A	TOPMed
DHCR7	Q9UBM7	p.Trp459Ter	rs1555145550	stop gained	-	NC_000011.10:g.71435427C>T	-
DHCR7	Q9UBM7	p.Trp459Ter	RCV000674614	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435427C>T	ClinVar
DHCR7	Q9UBM7	p.Glu460Gly	rs777838196	missense variant	-	NC_000011.10:g.71435424T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg461Cys	rs199506852	missense variant	-	NC_000011.10:g.71435422G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg461His	rs1197033218	missense variant	-	NC_000011.10:g.71435421C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg461Cys	RCV000501047	missense variant	-	NC_000011.10:g.71435422G>A	ClinVar
DHCR7	Q9UBM7	p.Arg461Cys	RCV000356607	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435422G>A	ClinVar
DHCR7	Q9UBM7	p.Arg461Cys	RCV000731766	missense variant	-	NC_000011.10:g.71435422G>A	ClinVar
DHCR7	Q9UBM7	p.Tyr462His	rs201270451	missense variant	-	NC_000011.10:g.71435419A>G	-
DHCR7	Q9UBM7	p.Tyr462Ter	rs1453500228	stop gained	-	NC_000011.10:g.71435417G>T	gnomAD
DHCR7	Q9UBM7	p.Tyr462Cys	COSM2044459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435418T>C	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Tyr462Ter	RCV000671232	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435417G>T	ClinVar
DHCR7	Q9UBM7	p.Tyr462His	RCV000411557	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435419A>G	ClinVar
DHCR7	Q9UBM7	p.Ala464Thr	rs566784842	missense variant	-	NC_000011.10:g.71435413C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala465Pro	rs1253213550	missense variant	-	NC_000011.10:g.71435410C>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala465Val	rs1219768413	missense variant	-	NC_000011.10:g.71435409G>A	gnomAD
DHCR7	Q9UBM7	p.Ala465Thr	rs1253213550	missense variant	-	NC_000011.10:g.71435410C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala465Ser	COSM690097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435410C>A	NCI-TCGA Cosmic
DHCR7	Q9UBM7	p.Val466Met	rs760428437	missense variant	-	NC_000011.10:g.71435407C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val466Met	RCV000255209	missense variant	-	NC_000011.10:g.71435407C>T	ClinVar
DHCR7	Q9UBM7	p.Pro467Thr	rs750211727	missense variant	-	NC_000011.10:g.71435404G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr468His	rs1245549808	missense variant	-	NC_000011.10:g.71435401A>G	TOPMed
DHCR7	Q9UBM7	p.Arg469Pro	rs201150384	missense variant	-	NC_000011.10:g.71435397C>G	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg469Cys	rs148660993	missense variant	-	NC_000011.10:g.71435398G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg469His	rs201150384	missense variant	-	NC_000011.10:g.71435397C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg469Cys	RCV000665167	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435398G>A	ClinVar
DHCR7	Q9UBM7	p.Arg469Pro	RCV000670231	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435397C>G	ClinVar
DHCR7	Q9UBM7	p.Arg469Pro	RCV000519844	missense variant	-	NC_000011.10:g.71435397C>G	ClinVar
DHCR7	Q9UBM7	p.Leu470Arg	rs1331331095	missense variant	-	NC_000011.10:g.71435394A>C	gnomAD
DHCR7	Q9UBM7	p.Leu470Gln	rs1331331095	missense variant	-	NC_000011.10:g.71435394A>T	gnomAD
DHCR7	Q9UBM7	p.Leu470Gln	RCV000622787	missense variant	Inborn genetic diseases	NC_000011.10:g.71435394A>T	ClinVar
DHCR7	Q9UBM7	p.Leu471Pro	rs766709599	missense variant	-	NC_000011.10:g.71435391A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly473Arg	rs1428527242	missense variant	-	NC_000011.10:g.71435386C>T	gnomAD
DHCR7	Q9UBM7	p.Ile474Val	rs1173923264	missense variant	-	NC_000011.10:g.71435383T>C	gnomAD
DHCR7	Q9UBM7	p.Phe475Leu	rs1378025166	missense variant	-	NC_000011.10:g.71435378G>C	gnomAD
DHCR7	Q9UBM7	p.Phe475Ser	rs1478872904	missense variant	-	NC_000011.10:g.71435379A>G	gnomAD
DHCR7	Q9UBM7	p.Ter476Lys	rs775034584	stop lost	-	NC_000011.10:g.71435377A>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ter476Gln	rs775034584	stop lost	-	NC_000011.10:g.71435377A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ter476Gln	RCV000169316	stop lost	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435377A>G	ClinVar
DHCR7	Q9UBM7	p.Ter476Lys	RCV000674641	stop lost	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435377A>T	ClinVar
DHCR7	Q9UBM7	p.Met1Val	RCV000224026	missense variant	-	NC_000011.10:g.71444952T>C	ClinVar
DHCR7	Q9UBM7	p.Met1Ile	RCV000169218	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444950C>T	ClinVar
DHCR7	Q9UBM7	p.Met1Val	RCV000169384	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444952T>C	ClinVar
DHCR7	Q9UBM7	p.Ala2Ser	rs1393635021	missense variant	-	NC_000011.10:g.71444949C>A	gnomAD
DHCR7	Q9UBM7	p.Ala3Thr	rs1157310044	missense variant	-	NC_000011.10:g.71444946C>T	TOPMed
DHCR7	Q9UBM7	p.Ser5Trp	rs1127869	missense variant	-	NC_000011.10:g.71444939G>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser5Leu	rs1127869	missense variant	-	NC_000011.10:g.71444939G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser5Leu	rs1127869	missense variant	-	NC_000011.10:g.71444939G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Ser5Leu	VAR_067456	missense variant	-	NC_000011.10:g.71444939G>A	UniProt
DHCR7	Q9UBM7	p.Ser5Leu	RCV000675039	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444939G>A	ClinVar
DHCR7	Q9UBM7	p.Gln6Ter	rs1057516977	stop gained	-	NC_000011.10:g.71444937G>A	gnomAD
DHCR7	Q9UBM7	p.Gln6Ter	RCV000411661	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444937G>A	ClinVar
DHCR7	Q9UBM7	p.Asn8Ser	rs756194690	missense variant	-	NC_000011.10:g.71444930T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn8Asp	rs1205809191	missense variant	-	NC_000011.10:g.71444931T>C	gnomAD
DHCR7	Q9UBM7	p.Ile9Phe	rs115595829	missense variant	-	NC_000011.10:g.71444928T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile9Val	rs115595829	missense variant	-	NC_000011.10:g.71444928T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile9Phe	RCV000514501	missense variant	-	NC_000011.10:g.71444928T>A	ClinVar
DHCR7	Q9UBM7	p.Pro10Ala	rs139166382	missense variant	-	NC_000011.10:g.71444925G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro10Ala	RCV000177130	missense variant	-	NC_000011.10:g.71444925G>C	ClinVar
DHCR7	Q9UBM7	p.Ala12Val	rs1279200193	missense variant	-	NC_000011.10:g.71444918G>A	gnomAD
DHCR7	Q9UBM7	p.Lys13Arg	rs764925295	missense variant	-	NC_000011.10:g.71444915T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys13Glu	rs1440025932	missense variant	-	NC_000011.10:g.71444916T>C	gnomAD
DHCR7	Q9UBM7	p.Asp16His	rs1286169625	missense variant	-	NC_000011.10:g.71444907C>G	TOPMed
DHCR7	Q9UBM7	p.Asp16Gly	rs1240758105	missense variant	-	NC_000011.10:g.71444906T>C	gnomAD
DHCR7	Q9UBM7	p.Val18Ile	rs770947907	missense variant	-	NC_000011.10:g.71444901C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val18Phe	rs770947907	missense variant	-	NC_000011.10:g.71444901C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn20Lys	rs771795285	missense variant	-	NC_000011.10:g.71444893A>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asn20Asp	rs772572550	missense variant	-	NC_000011.10:g.71444895T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn20Ser	rs1425357779	missense variant	-	NC_000011.10:g.71444894T>C	gnomAD
DHCR7	Q9UBM7	p.Asn20Asp	RCV000756011	missense variant	-	NC_000011.10:g.71444895T>C	ClinVar
DHCR7	Q9UBM7	p.Thr23Ser	rs1253314771	missense variant	-	NC_000011.10:g.71444885G>C	gnomAD
DHCR7	Q9UBM7	p.Ala24Ser	rs146867923	missense variant	-	NC_000011.10:g.71444883C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala24Glu	rs530687139	missense variant	-	NC_000011.10:g.71444882G>T	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala24Val	rs530687139	missense variant	-	NC_000011.10:g.71444882G>A	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala24Thr	rs146867923	missense variant	-	NC_000011.10:g.71444883C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala24Ser	RCV000380891	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444883C>A	ClinVar
DHCR7	Q9UBM7	p.Gly27Arg	rs780570846	missense variant	-	NC_000011.10:g.71444874C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gln28Ter	rs756564881	stop gained	-	NC_000011.10:g.71444871G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gln28Ter	RCV000411258	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444871G>A	ClinVar
DHCR7	Q9UBM7	p.Gln28His	RCV000336499	missense variant	-	NC_000011.10:g.71444869C>A	ClinVar
DHCR7	Q9UBM7	p.Gln28His	rs372855459	missense variant	-	NC_000011.10:g.71444869C>A	ESP,ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly30Asp	rs200334114	missense variant	-	NC_000011.10:g.71444864C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly30Ser	rs1222259994	missense variant	-	NC_000011.10:g.71444865C>T	gnomAD
DHCR7	Q9UBM7	p.Gly30Ala	rs200334114	missense variant	-	NC_000011.10:g.71444864C>G	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly30Ala	RCV000449598	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444864C>G	ClinVar
DHCR7	Q9UBM7	p.Arg31His	rs370307688	missense variant	-	NC_000011.10:g.71444861C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg31Cys	rs367585401	missense variant	-	NC_000011.10:g.71444862G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg31His	RCV000594191	missense variant	-	NC_000011.10:g.71444861C>T	ClinVar
DHCR7	Q9UBM7	p.Arg31Cys	RCV000681774	missense variant	-	NC_000011.10:g.71444862G>A	ClinVar
DHCR7	Q9UBM7	p.Arg31Ser	rs367585401	missense variant	-	NC_000011.10:g.71444862G>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp37Arg	rs1193320383	missense variant	-	NC_000011.10:g.71444205A>G	gnomAD
DHCR7	Q9UBM7	p.Trp37Cys	rs750345068	missense variant	-	NC_000011.10:g.71444203C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp37Ter	RCV000169596	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444203C>T	ClinVar
DHCR7	Q9UBM7	p.Trp37Ter	rs750345068	stop gained	-	NC_000011.10:g.71444203C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ser39Leu	rs1467346010	missense variant	-	NC_000011.10:g.71444198G>A	gnomAD
DHCR7	Q9UBM7	p.Ala41Val	rs761265690	missense variant	-	NC_000011.10:g.71444192G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala41Val	RCV000717334	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71444192G>A	ClinVar
DHCR7	Q9UBM7	p.Ala41Val	RCV000706484	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444192G>A	ClinVar
DHCR7	Q9UBM7	p.Ala41Val	RCV000307109	missense variant	-	NC_000011.10:g.71444192G>A	ClinVar
DHCR7	Q9UBM7	p.Val43Ile	rs200984695	missense variant	-	NC_000011.10:g.71444187C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile44Thr	rs142897396	missense variant	-	NC_000011.10:g.71444183A>G	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile44Thr	RCV000333892	missense variant	-	NC_000011.10:g.71444183A>G	ClinVar
DHCR7	Q9UBM7	p.Leu46Arg	rs746175164	missense variant	-	NC_000011.10:g.71444177A>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu47Pro	rs1365132949	missense variant	-	NC_000011.10:g.71444174A>G	gnomAD
DHCR7	Q9UBM7	p.Leu47Val	rs140721259	missense variant	-	NC_000011.10:g.71444175G>C	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala50Val	rs104886034	missense variant	-	NC_000011.10:g.71444165G>A	gnomAD
DHCR7	Q9UBM7	p.Ala50Ser	rs747103823	missense variant	-	NC_000011.10:g.71444166C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala50Asp	rs104886034	missense variant	-	NC_000011.10:g.71444165G>T	gnomAD
DHCR7	Q9UBM7	p.Ala50Thr	rs747103823	missense variant	-	NC_000011.10:g.71444166C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro51Ser	rs104886035	missense variant	-	NC_000011.10:g.71444163G>A	TOPMed
DHCR7	Q9UBM7	p.Pro51Ser	RCV000079646	missense variant	-	NC_000011.10:g.71444163G>A	ClinVar
DHCR7	Q9UBM7	p.Pro51Ser	RCV000178160	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444163G>A	ClinVar
DHCR7	Q9UBM7	p.Phe52Leu	rs758757355	missense variant	-	NC_000011.10:g.71444158G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile53Val	rs1186653102	missense variant	-	NC_000011.10:g.71444157T>C	TOPMed
DHCR7	Q9UBM7	p.Val54Ile	rs779222334	missense variant	-	NC_000011.10:g.71444154C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val54Ile	RCV000674781	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444154C>T	ClinVar
DHCR7	Q9UBM7	p.Tyr55Ter	rs374941029	stop gained	-	NC_000011.10:g.71444149G>C	ESP,ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr56Asn	rs1480350925	missense variant	-	NC_000011.10:g.71444148A>T	gnomAD
DHCR7	Q9UBM7	p.Tyr56Ter	rs1178953604	stop gained	-	NC_000011.10:g.71444146G>T	TOPMed
DHCR7	Q9UBM7	p.Phe57Leu	rs1231628274	missense variant	-	NC_000011.10:g.71444145A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe57Val	rs1231628274	missense variant	-	NC_000011.10:g.71444145A>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe57Tyr	rs1207948894	missense variant	-	NC_000011.10:g.71444144A>T	gnomAD
DHCR7	Q9UBM7	p.Ile58Val	rs104886032	missense variant	-	NC_000011.10:g.71444142T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile58Phe	rs104886032	missense variant	-	NC_000011.10:g.71444142T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala60Val	rs1232635305	missense variant	-	NC_000011.10:g.71444135G>A	gnomAD
DHCR7	Q9UBM7	p.Cys61Phe	rs761788547	missense variant	-	NC_000011.10:g.71444132C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asp62Val	rs104886037	missense variant	-	NC_000011.10:g.71444129T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gln63Ter	rs1372014207	stop gained	-	NC_000011.10:g.71444127G>A	gnomAD
DHCR7	Q9UBM7	p.Gln63His	rs1044482	missense variant	-	NC_000011.10:g.71444125C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala67Ser	rs143999854	missense variant	-	NC_000011.10:g.71444115C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala67Thr	rs143999854	missense variant	-	NC_000011.10:g.71444115C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala67Thr	RCV000079648	missense variant	-	NC_000011.10:g.71444115C>T	ClinVar
DHCR7	Q9UBM7	p.Gly70Ser	rs144512551	missense variant	-	NC_000011.10:g.71444106C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly70Ser	RCV000153144	missense variant	-	NC_000011.10:g.71444106C>T	ClinVar
DHCR7	Q9UBM7	p.Gly70Arg	rs144512551	missense variant	-	NC_000011.10:g.71444106C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro71Ser	rs1177091875	missense variant	-	NC_000011.10:g.71444103G>A	gnomAD
DHCR7	Q9UBM7	p.Asp74Glu	rs183441430	missense variant	-	NC_000011.10:g.71444092G>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asp74Asn	rs773481689	missense variant	-	NC_000011.10:g.71444094C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asp74Ala	rs374874199	missense variant	-	NC_000011.10:g.71444093T>G	ESP
DHCR7	Q9UBM7	p.Ile75Phe	rs370748173	missense variant	-	NC_000011.10:g.71444091T>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile75Phe	RCV000706474	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444091T>A	ClinVar
DHCR7	Q9UBM7	p.Ile75Phe	RCV000178161	missense variant	-	NC_000011.10:g.71444091T>A	ClinVar
DHCR7	Q9UBM7	p.Val76Ile	rs368473756	missense variant	-	NC_000011.10:g.71444088C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr77Ile	rs781010025	missense variant	-	NC_000011.10:g.71444084G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly78Glu	RCV000732495	missense variant	-	NC_000011.10:g.71444081C>T	ClinVar
DHCR7	Q9UBM7	p.Gly78Arg	rs373352413	missense variant	-	NC_000011.10:g.71444082C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly78Arg	RCV000672218	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444082C>T	ClinVar
DHCR7	Q9UBM7	p.Arg81Gln	rs752153214	missense variant	-	NC_000011.10:g.71444072C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg81Gly	rs775735710	missense variant	-	NC_000011.10:g.71444073G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg81Trp	rs775735710	missense variant	-	NC_000011.10:g.71444073G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg81Trp	RCV000277230	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444073G>A	ClinVar
DHCR7	Q9UBM7	p.Arg81Trp	RCV000730759	missense variant	-	NC_000011.10:g.71444073G>A	ClinVar
DHCR7	Q9UBM7	p.Ser83Leu	rs764847274	missense variant	-	NC_000011.10:g.71444066G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asp84Gly	rs776923495	missense variant	-	NC_000011.10:g.71444063T>C	ExAC
DHCR7	Q9UBM7	p.Thr89Ser	rs375997113	missense variant	-	NC_000011.10:g.71444049T>A	ESP,TOPMed
DHCR7	Q9UBM7	p.Thr89Ala	rs375997113	missense variant	-	NC_000011.10:g.71444049T>C	ESP,TOPMed
DHCR7	Q9UBM7	p.Pro90Ser	rs773862228	missense variant	-	NC_000011.10:g.71444046G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Pro91Leu	rs1161391135	missense variant	-	NC_000011.10:g.71444042G>A	gnomAD
DHCR7	Q9UBM7	p.Pro91Ser	rs1410107835	missense variant	-	NC_000011.10:g.71444043G>A	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr93Met	rs80338853	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71444036G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr93Met	rs80338853	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444036G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Thr93Met	VAR_012718	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444036G>A	UniProt
DHCR7	Q9UBM7	p.Thr93Met	RCV000454251	missense variant	-	NC_000011.10:g.71444036G>A	ClinVar
DHCR7	Q9UBM7	p.Arg94Ser	rs541593878	missense variant	-	NC_000011.10:g.71444032C>A	gnomAD
DHCR7	Q9UBM7	p.Ala96Val	rs1348232298	missense variant	-	NC_000011.10:g.71444027G>A	TOPMed
DHCR7	Q9UBM7	p.Ala97Thr	RCV000370999	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444025C>T	ClinVar
DHCR7	Q9UBM7	p.Ala97Thr	rs150563256	missense variant	-	NC_000011.10:g.71444025C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gln98Ter	rs104886039	stop gained	-	NC_000011.10:g.71444022G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gln98Ter	RCV000489856	nonsense	-	NC_000011.10:g.71444022G>A	ClinVar
DHCR7	Q9UBM7	p.Leu99Pro	rs104886041	missense variant	-	NC_000011.10:g.71444018A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu99Pro	RCV000756013	missense variant	-	NC_000011.10:g.71444018A>G	ClinVar
DHCR7	Q9UBM7	p.Leu99Pro	RCV000668709	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444018A>G	ClinVar
DHCR7	Q9UBM7	p.Thr101Ile	rs1292543464	missense variant	-	NC_000011.10:g.71444012G>A	gnomAD
DHCR7	Q9UBM7	p.Leu102Phe	rs1313146591	missense variant	-	NC_000011.10:g.71444008C>G	gnomAD
DHCR7	Q9UBM7	p.Leu102Ser	rs1342235041	missense variant	-	NC_000011.10:g.71444009A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val104Phe	rs1340032271	missense variant	-	NC_000011.10:g.71444004C>A	gnomAD
DHCR7	Q9UBM7	p.Thr105Asn	rs1381454160	missense variant	-	NC_000011.10:g.71444000G>T	gnomAD
DHCR7	Q9UBM7	p.Gln107His	rs104886040	missense variant	-	NC_000011.10:g.71443993C>G	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu109Pro	rs121912195	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Leu109Pro	VAR_023150	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	UniProt
DHCR7	Q9UBM7	p.Leu109Pro	rs121912195	missense variant	-	NC_000011.10:g.71442349A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu109Pro	RCV000665858	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	ClinVar
DHCR7	Q9UBM7	p.Tyr111Cys	rs1358554992	missense variant	-	NC_000011.10:g.71442343T>C	TOPMed
DHCR7	Q9UBM7	p.Thr112Arg	rs770040020	missense variant	-	NC_000011.10:g.71442340G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr112Met	rs770040020	missense variant	-	NC_000011.10:g.71442340G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser113Cys	VAR_023151	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Pro115Leu	rs1170473492	missense variant	-	NC_000011.10:g.71442331G>A	gnomAD
DHCR7	Q9UBM7	p.Pro115Ser	rs981021248	missense variant	-	NC_000011.10:g.71442332G>A	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro115Thr	rs981021248	missense variant	-	NC_000011.10:g.71442332G>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Cys118Arg	VAR_074180	Missense	-	-	UniProt
DHCR7	Q9UBM7	p.His119Arg	rs28938174	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71442319T>C	TOPMed
DHCR7	Q9UBM7	p.His119Leu	rs28938174	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71442319T>A	TOPMed
DHCR7	Q9UBM7	p.His119Tyr	rs1180916134	missense variant	-	NC_000011.10:g.71442320G>A	gnomAD
DHCR7	Q9UBM7	p.His119Arg	RCV000624580	missense variant	Inborn genetic diseases	NC_000011.10:g.71442319T>C	ClinVar
DHCR7	Q9UBM7	p.His119Leu	RCV000007182	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442319T>A	ClinVar
DHCR7	Q9UBM7	p.His119Leu	RCV000274996	missense variant	-	NC_000011.10:g.71442319T>A	ClinVar
DHCR7	Q9UBM7	p.Lys120Glu	rs771866134	missense variant	-	NC_000011.10:g.71442317T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro123Leu	rs1205519483	missense variant	-	NC_000011.10:g.71442307G>A	gnomAD
DHCR7	Q9UBM7	p.Gly124Arg	rs748879289	missense variant	-	NC_000011.10:g.71442305C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly124Ser	rs748879289	missense variant	-	NC_000011.10:g.71442305C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val126Ile	RCV000178841	missense variant	-	NC_000011.10:g.71442299C>T	ClinVar
DHCR7	Q9UBM7	p.Val126Ile	rs143587828	missense variant	-	NC_000011.10:g.71442299C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val126Ile	RCV000717845	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71442299C>T	ClinVar
DHCR7	Q9UBM7	p.Val126Ile	RCV000297594	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442299C>T	ClinVar
DHCR7	Q9UBM7	p.Gly128Asp	rs1287803816	missense variant	-	NC_000011.10:g.71442292C>T	gnomAD
DHCR7	Q9UBM7	p.Ile129Leu	rs138215017	missense variant	-	NC_000011.10:g.71442290T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile129Thr	rs757703242	missense variant	-	NC_000011.10:g.71442289A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile129Val	rs138215017	missense variant	-	NC_000011.10:g.71442290T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly132Arg	rs1414500492	missense variant	-	NC_000011.10:g.71442281C>T	gnomAD
DHCR7	Q9UBM7	p.Gly132Glu	rs751818759	missense variant	-	NC_000011.10:g.71442280C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala133Thr	rs763333510	missense variant	-	NC_000011.10:g.71442278C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala133Thr	RCV000674190	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442278C>T	ClinVar
DHCR7	Q9UBM7	p.Val134Met	rs201466849	missense variant	-	NC_000011.10:g.71442275C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val134Leu	RCV000079653	missense variant	-	NC_000011.10:g.71442275C>A	ClinVar
DHCR7	Q9UBM7	p.Val134Leu	rs201466849	missense variant	-	NC_000011.10:g.71442275C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val134Leu	RCV000674435	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442275C>A	ClinVar
DHCR7	Q9UBM7	p.Ala137Ser	rs563056315	missense variant	-	NC_000011.10:g.71442266C>A	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly138Val	VAR_023152	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Val139Ile	rs769816544	missense variant	-	NC_000011.10:g.71441438C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val139Gly	rs1405934579	missense variant	-	NC_000011.10:g.71441437A>C	gnomAD
DHCR7	Q9UBM7	p.Val140Met	rs373908315	missense variant	-	NC_000011.10:g.71441435C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys142Glu	rs1441002815	missense variant	-	NC_000011.10:g.71441429T>C	gnomAD
DHCR7	Q9UBM7	p.Tyr143Ter	RCV000760785	nonsense	-	NC_000011.10:g.71441424A>C	ClinVar
DHCR7	Q9UBM7	p.Tyr143Ter	rs1393186135	stop gained	-	NC_000011.10:g.71441424A>C	gnomAD
DHCR7	Q9UBM7	p.Gln144Arg	rs776246504	missense variant	-	NC_000011.10:g.71441422T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile145Leu	rs1555146475	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Ile145Leu	VAR_023153	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	UniProt
DHCR7	Q9UBM7	p.Ile145Leu	rs1555146475	missense variant	-	NC_000011.10:g.71441420T>G	-
DHCR7	Q9UBM7	p.Ile145Leu	RCV000674923	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	ClinVar
DHCR7	Q9UBM7	p.Asn146Lys	rs949177	missense variant	-	NC_000011.10:g.71441415A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn146Lys	rs949177	missense variant	-	NC_000011.10:g.71441415A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn146Lys	RCV000779078	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441415A>C	ClinVar
DHCR7	Q9UBM7	p.Gly147Ser	rs1248898751	missense variant	-	NC_000011.10:g.71441414C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly147Asp	rs777425801	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly147Asp	VAR_023154	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	UniProt
DHCR7	Q9UBM7	p.Gly147Asp	rs777425801	missense variant	-	NC_000011.10:g.71441413C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly147Asp	RCV000421810	missense variant	-	NC_000011.10:g.71441413C>T	ClinVar
DHCR7	Q9UBM7	p.Gly147Asp	RCV000665794	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	ClinVar
DHCR7	Q9UBM7	p.Leu148Pro	rs1401635626	missense variant	-	NC_000011.10:g.71441410A>G	TOPMed
DHCR7	Q9UBM7	p.Trp151Ter	rs104894213	stop gained	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71441400C>T	-
DHCR7	Q9UBM7	p.Trp151Ter	rs11555217	stop gained	-	NC_000011.10:g.71441401C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp151Ser	rs11555217	missense variant	-	NC_000011.10:g.71441401C>G	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp151Ter	RCV000079655	nonsense	-	NC_000011.10:g.71441401C>T	ClinVar
DHCR7	Q9UBM7	p.Trp151Ter	RCV000007186	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441400C>T	ClinVar
DHCR7	Q9UBM7	p.Trp151Ter	RCV000020436	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441401C>T	ClinVar
DHCR7	Q9UBM7	p.Trp151Ter	RCV000414879	nonsense	-	NC_000011.10:g.71441401C>T	ClinVar
DHCR7	Q9UBM7	p.Thr154Met	RCV000169290	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	ClinVar
DHCR7	Q9UBM7	p.Thr154Met	rs143312232	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Thr154Met	VAR_023155	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	UniProt
DHCR7	Q9UBM7	p.Thr154Met	rs143312232	missense variant	-	NC_000011.10:g.71441392G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr154Arg	rs143312232	missense variant	-	NC_000011.10:g.71441392G>C	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr154Ala	rs779417085	missense variant	-	NC_000011.10:g.71441393T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr154Arg	RCV000790776	missense variant	-	NC_000011.10:g.71441392G>C	ClinVar
DHCR7	Q9UBM7	p.Leu157Pro	rs753960624	missense variant	-	NC_000011.10:g.71441383A>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu157Pro	RCV000724648	missense variant	-	NC_000011.10:g.71441383A>G	ClinVar
DHCR7	Q9UBM7	p.Trp158Ter	rs1343783336	stop gained	-	NC_000011.10:g.71441380C>T	gnomAD
DHCR7	Q9UBM7	p.Trp158Cys	rs766443353	missense variant	-	NC_000011.10:g.71441379C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Phe159Leu	rs756416682	missense variant	-	NC_000011.10:g.71441378A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala160Thr	rs1364850343	missense variant	-	NC_000011.10:g.71441375C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala162Thr	rs767716202	missense variant	-	NC_000011.10:g.71441369C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala162Val	RCV000079656	missense variant	-	NC_000011.10:g.71441368G>A	ClinVar
DHCR7	Q9UBM7	p.Ala162Val	rs398123606	missense variant	-	NC_000011.10:g.71441368G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala162Val	RCV000717756	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71441368G>A	ClinVar
DHCR7	Q9UBM7	p.His163Arg	rs752494910	missense variant	-	NC_000011.10:g.71441365T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu164Ile	rs774978807	missense variant	-	NC_000011.10:g.71441363G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu164Phe	rs774978807	missense variant	-	NC_000011.10:g.71441363G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu164Val	rs774978807	missense variant	-	NC_000011.10:g.71441363G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp167Ser	rs776334336	missense variant	-	NC_000011.10:g.71441353C>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp167Cys	rs1427321619	missense variant	-	NC_000011.10:g.71441352C>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser169Leu	rs80338855	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441347G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Ser169Leu	VAR_023156	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441347G>A	UniProt
DHCR7	Q9UBM7	p.Ser169Leu	rs80338855	missense variant	-	NC_000011.10:g.71441347G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser169Trp	rs80338855	missense variant	-	NC_000011.10:g.71441347G>C	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser169Leu	RCV000756012	missense variant	-	NC_000011.10:g.71441347G>A	ClinVar
DHCR7	Q9UBM7	p.Pro170Leu	rs150459687	missense variant	-	NC_000011.10:g.71441344G>A	ESP,TOPMed
DHCR7	Q9UBM7	p.Pro170Arg	rs150459687	missense variant	-	NC_000011.10:g.71441344G>C	ESP,TOPMed
DHCR7	Q9UBM7	p.Ile172Val	rs748562900	missense variant	-	NC_000011.10:g.71441339T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile173Phe	rs779219548	missense variant	-	NC_000011.10:g.71441336T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Phe174Val	rs886044698	missense variant	-	NC_000011.10:g.71441333A>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe174Val	RCV000270483	missense variant	-	NC_000011.10:g.71441333A>C	ClinVar
DHCR7	Q9UBM7	p.Phe174Ser	RCV000670698	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441332A>G	ClinVar
DHCR7	Q9UBM7	p.Phe174Ser	rs769218623	missense variant	-	NC_000011.10:g.71441332A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asp175Asn	rs368269558	missense variant	-	NC_000011.10:g.71441330C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asp175Asn	RCV000665387	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441330C>T	ClinVar
DHCR7	Q9UBM7	p.Ile178Phe	rs1223603615	missense variant	-	NC_000011.10:g.71441321T>A	gnomAD
DHCR7	Q9UBM7	p.Ile178Phe	RCV000674760	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441321T>A	ClinVar
DHCR7	Q9UBM7	p.Pro179Leu	RCV000672439	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441317G>A	ClinVar
DHCR7	Q9UBM7	p.Pro179Leu	rs1555146436	missense variant	-	NC_000011.10:g.71441317G>A	-
DHCR7	Q9UBM7	p.Leu181Pro	rs1286409393	missense variant	-	NC_000011.10:g.71441311A>G	gnomAD
DHCR7	Q9UBM7	p.Trp182Ter	rs1032242817	stop gained	-	NC_000011.10:g.71441307C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp182Leu	rs536394774	missense variant	-	NC_000011.10:g.71441308C>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp182Leu	rs536394774	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441308C>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Trp182Leu	VAR_023158	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441308C>A	UniProt
DHCR7	Q9UBM7	p.Trp182Ter	rs536394774	stop gained	-	NC_000011.10:g.71441308C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp182Ter	RCV000761593	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441307C>T	ClinVar
DHCR7	Q9UBM7	p.Trp182Cys	VAR_023157	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Cys183Tyr	VAR_023159	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Ala184Thr	rs891223964	missense variant	-	NC_000011.10:g.71441303C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn185Ser	rs1177172403	missense variant	-	NC_000011.10:g.71441299T>C	gnomAD
DHCR7	Q9UBM7	p.Ile186Asn	rs1472308699	missense variant	-	NC_000011.10:g.71441296A>T	gnomAD
DHCR7	Q9UBM7	p.Ile186Met	rs757519627	missense variant	-	NC_000011.10:g.71441295G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu187Pro	RCV000715346	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71441293A>G	ClinVar
DHCR7	Q9UBM7	p.Gly188Val	rs1184941602	missense variant	-	NC_000011.10:g.71441290C>A	gnomAD
DHCR7	Q9UBM7	p.Ala190Val	rs752603560	missense variant	-	NC_000011.10:g.71441284G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Val191Ile	rs532635888	missense variant	-	NC_000011.10:g.71441282C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser192Phe	rs766299724	missense variant	-	NC_000011.10:g.71441278G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ser192Pro	rs753830704	missense variant	-	NC_000011.10:g.71441279A>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala195Thr	rs151170252	missense variant	-	NC_000011.10:g.71441270C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met196Val	rs200474791	missense variant	-	NC_000011.10:g.71441267T>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met196Thr	rs142138656	missense variant	-	NC_000011.10:g.71441266A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys198Glu	VAR_023160	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Phe201Cys	rs1478289787	missense variant	-	NC_000011.10:g.71441251A>C	gnomAD
DHCR7	Q9UBM7	p.Phe201Leu	rs774755673	missense variant	-	NC_000011.10:g.71441252A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Phe201Leu	rs377727130	missense variant	-	NC_000011.10:g.71441250G>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro203Ser	rs749591513	missense variant	-	NC_000011.10:g.71441246G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala206Thr	rs542744675	missense variant	-	NC_000011.10:g.71441237C>T	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg207Gly	rs1161545361	missense variant	-	NC_000011.10:g.71441234T>C	gnomAD
DHCR7	Q9UBM7	p.Cys209Ser	rs1236276448	missense variant	-	NC_000011.10:g.71441227C>G	TOPMed
DHCR7	Q9UBM7	p.Lys210Arg	rs1330568278	missense variant	-	NC_000011.10:g.71439081T>C	gnomAD
DHCR7	Q9UBM7	p.Lys210Glu	rs1401502860	missense variant	-	NC_000011.10:g.71439082T>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr212Ala	rs976105626	missense variant	-	NC_000011.10:g.71439076T>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr212Ile	rs1221743276	missense variant	-	NC_000011.10:g.71439075G>A	TOPMed
DHCR7	Q9UBM7	p.Thr212Pro	rs976105626	missense variant	-	NC_000011.10:g.71439076T>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly213Asp	RCV000674047	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439072C>T	ClinVar
DHCR7	Q9UBM7	p.Gly213Asp	rs769583377	missense variant	-	NC_000011.10:g.71439072C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn214Ser	rs1389034393	missense variant	-	NC_000011.10:g.71439069T>C	gnomAD
DHCR7	Q9UBM7	p.Phe215Leu	rs773048017	missense variant	-	NC_000011.10:g.71439065G>T	-
DHCR7	Q9UBM7	p.Phe216Val	rs1366802542	missense variant	-	NC_000011.10:g.71439064A>C	gnomAD
DHCR7	Q9UBM7	p.Tyr217Ter	rs749076525	stop gained	-	NC_000011.10:g.71439059G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr217Ter	RCV000781323	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439059G>T	ClinVar
DHCR7	Q9UBM7	p.Tyr219Asp	rs779896782	missense variant	-	NC_000011.10:g.71439055A>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr219His	rs779896782	missense variant	-	NC_000011.10:g.71439055A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr219Asp	RCV000668765	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439055A>C	ClinVar
DHCR7	Q9UBM7	p.Tyr219His	RCV000415359	missense variant	-	NC_000011.10:g.71439055A>G	ClinVar
DHCR7	Q9UBM7	p.Met220Leu	RCV000597534	missense variant	-	NC_000011.10:g.71439052T>A	ClinVar
DHCR7	Q9UBM7	p.Met220Val	rs200659923	missense variant	-	NC_000011.10:g.71439052T>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met220Leu	rs200659923	missense variant	-	NC_000011.10:g.71439052T>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met220Ile	rs767377692	missense variant	-	NC_000011.10:g.71439050C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Met220Leu	rs200659923	missense variant	-	NC_000011.10:g.71439052T>G	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met220Leu	RCV000335696	missense variant	-	NC_000011.10:g.71439052T>G	ClinVar
DHCR7	Q9UBM7	p.Met221Val	rs756795175	missense variant	-	NC_000011.10:g.71439049T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly222Asp	rs751026224	missense variant	-	NC_000011.10:g.71439045C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Glu224Lys	RCV000596201	missense variant	-	NC_000011.10:g.71439040C>T	ClinVar
DHCR7	Q9UBM7	p.Glu224Lys	rs373121544	missense variant	-	NC_000011.10:g.71439040C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu224Lys	RCV000671914	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439040C>T	ClinVar
DHCR7	Q9UBM7	p.Arg228Gln	rs201556114	missense variant	-	NC_000011.10:g.71439027C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg228Trp	rs775773057	missense variant	-	NC_000011.10:g.71439028G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg228Trp	RCV000674773	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439028G>A	ClinVar
DHCR7	Q9UBM7	p.Ile229Met	rs267603172	missense variant	-	NC_000011.10:g.71439023G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly230Arg	rs747133004	missense variant	-	NC_000011.10:g.71439022C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys231Arg	rs772491341	missense variant	-	NC_000011.10:g.71439018T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp232Arg	rs748390752	missense variant	-	NC_000011.10:g.71439016A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Trp232Leu	rs1404262569	missense variant	-	NC_000011.10:g.71439015C>A	gnomAD
DHCR7	Q9UBM7	p.Phe233Leu	rs1346625763	missense variant	-	NC_000011.10:g.71439013A>G	gnomAD
DHCR7	Q9UBM7	p.Phe235Ser	RCV000665754	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	ClinVar
DHCR7	Q9UBM7	p.Phe235Ser	rs1555146061	missense variant	-	NC_000011.10:g.71439006A>G	-
DHCR7	Q9UBM7	p.Phe235Ser	rs1555146061	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Phe235Ser	VAR_023161	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	UniProt
DHCR7	Q9UBM7	p.Asn240Ser	rs148609143	missense variant	-	NC_000011.10:g.71438991T>C	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn240Ser	RCV000763769	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438991T>C	ClinVar
DHCR7	Q9UBM7	p.Asn240Ser	RCV000717470	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71438991T>C	ClinVar
DHCR7	Q9UBM7	p.Asn240Ser	RCV000513933	missense variant	-	NC_000011.10:g.71438991T>C	ClinVar
DHCR7	Q9UBM7	p.Arg242His	rs80338857	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg242His	VAR_023163	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	UniProt
DHCR7	Q9UBM7	p.Arg242His	rs80338857	missense variant	-	NC_000011.10:g.71438985C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg242His	RCV000020439	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	ClinVar
DHCR7	Q9UBM7	p.Arg242Cys	rs80338856	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438986G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg242Cys	VAR_023162	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438986G>A	UniProt
DHCR7	Q9UBM7	p.Arg242Cys	rs80338856	missense variant	-	NC_000011.10:g.71438986G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg242Cys	RCV000389331	missense variant	-	NC_000011.10:g.71438986G>A	ClinVar
DHCR7	Q9UBM7	p.Pro243Ser	rs1329227520	missense variant	-	NC_000011.10:g.71438983G>A	TOPMed
DHCR7	Q9UBM7	p.Pro243Arg	rs777248132	missense variant	-	NC_000011.10:g.71438982G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Pro243Arg	RCV000674586	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438982G>C	ClinVar
DHCR7	Q9UBM7	p.Gly244Arg	rs121909764	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly244Arg	VAR_012722	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	UniProt
DHCR7	Q9UBM7	p.Gly244Arg	rs121909764	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71438980C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly244Arg	RCV000007183	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	ClinVar
DHCR7	Q9UBM7	p.Val246Ile	rs759967245	missense variant	-	NC_000011.10:g.71438974C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala247Thr	rs767031102	missense variant	-	NC_000011.10:g.71438971C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala247Val	RCV000670451	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438970G>A	ClinVar
DHCR7	Q9UBM7	p.Trp248Arg	rs886044494	missense variant	-	NC_000011.10:g.71438968A>G	gnomAD
DHCR7	Q9UBM7	p.Trp248Cys	rs104894212	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71438966C>A	-
DHCR7	Q9UBM7	p.Trp248Cys	rs104894212	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Trp248Cys	VAR_012724	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	UniProt
DHCR7	Q9UBM7	p.Trp248Arg	RCV000339772	missense variant	-	NC_000011.10:g.71438968A>G	ClinVar
DHCR7	Q9UBM7	p.Trp248Arg	RCV000671730	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438968A>G	ClinVar
DHCR7	Q9UBM7	p.Trp248Cys	RCV000007184	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	ClinVar
DHCR7	Q9UBM7	p.Leu250Val	rs772294537	missense variant	-	NC_000011.10:g.71438962G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile251Val	rs761732160	missense variant	-	NC_000011.10:g.71438959T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asn252Ile	rs1186843944	missense variant	-	NC_000011.10:g.71438955T>A	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn252Lys	rs774666247	missense variant	-	NC_000011.10:g.71438954G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn252Ser	rs1186843944	missense variant	-	NC_000011.10:g.71438955T>C	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe255Leu	VAR_023164	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Ala256Thr	rs772639348	missense variant	-	NC_000011.10:g.71438944C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala256Ser	rs772639348	missense variant	-	NC_000011.10:g.71438944C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala257Val	rs770925697	missense variant	-	NC_000011.10:g.71438940G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala257Val	RCV000674169	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438940G>A	ClinVar
DHCR7	Q9UBM7	p.Ala257Val	RCV000623313	missense variant	Inborn genetic diseases	NC_000011.10:g.71438940G>A	ClinVar
DHCR7	Q9UBM7	p.Ala257Gly	rs770925697	missense variant	-	NC_000011.10:g.71438940G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg260Gly	rs777617141	missense variant	-	NC_000011.10:g.71438932G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg260Gln	rs551260416	missense variant	-	NC_000011.10:g.71438931C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg260Trp	rs777617141	missense variant	-	NC_000011.10:g.71438932G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg260Gly	RCV000297920	missense variant	-	NC_000011.10:g.71438932G>C	ClinVar
DHCR7	Q9UBM7	p.Glu261Ala	rs1406131499	missense variant	-	NC_000011.10:g.71438928T>G	gnomAD
DHCR7	Q9UBM7	p.Glu261Lys	rs752096930	missense variant	-	NC_000011.10:g.71438929C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu262Phe	rs754553051	missense variant	-	NC_000011.10:g.71438926G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu262Val	rs754553051	missense variant	-	NC_000011.10:g.71438926G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ser264Gly	rs766838675	missense variant	-	NC_000011.10:g.71438920T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.His265Arg	rs1042442188	missense variant	-	NC_000011.10:g.71438916T>C	TOPMed
DHCR7	Q9UBM7	p.Asn268Ser	rs761064004	missense variant	-	NC_000011.10:g.71438907T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn268Ter	RCV000667454	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438908del	ClinVar
DHCR7	Q9UBM7	p.Asn268Lys	rs750973099	missense variant	-	NC_000011.10:g.71438906A>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asn268Ter	RCV000411261	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438906del	ClinVar
DHCR7	Q9UBM7	p.Met270Thr	rs1353742919	missense variant	-	NC_000011.10:g.71438901A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met270Val	rs1555146021	missense variant	-	NC_000011.10:g.71438902T>C	-
DHCR7	Q9UBM7	p.Met270Val	RCV000672300	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438902T>C	ClinVar
DHCR7	Q9UBM7	p.Asn274Thr	rs774275482	missense variant	-	NC_000011.10:g.71438889T>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn274Ser	rs774275482	missense variant	-	NC_000011.10:g.71438889T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn274Lys	rs139787408	missense variant	-	NC_000011.10:g.71438888G>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val275Ile	rs775628929	missense variant	-	NC_000011.10:g.71438887C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val275Ala	rs1354657059	missense variant	-	NC_000011.10:g.71438886A>G	gnomAD
DHCR7	Q9UBM7	p.Gln277Ter	rs1383142169	stop gained	-	NC_000011.10:g.71438881G>A	gnomAD
DHCR7	Q9UBM7	p.Ala278Val	rs1343520903	missense variant	-	NC_000011.10:g.71437942G>A	gnomAD
DHCR7	Q9UBM7	p.Ile279Val	rs752010614	missense variant	-	NC_000011.10:g.71437940T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr280Ter	rs148468879	stop gained	-	NC_000011.10:g.71437935G>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr280Cys	rs121909766	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71437936T>C	-
DHCR7	Q9UBM7	p.Tyr280Cys	RCV000007192	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437936T>C	ClinVar
DHCR7	Q9UBM7	p.Val281Met	RCV000624268	missense variant	Inborn genetic diseases	NC_000011.10:g.71437934C>T	ClinVar
DHCR7	Q9UBM7	p.Val281Met	rs398123607	missense variant	-	NC_000011.10:g.71437934C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe284Leu	rs184297154	missense variant	-	NC_000011.10:g.71437923G>T	1000Genomes
DHCR7	Q9UBM7	p.Trp286Ter	RCV000671381	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437917C>T	ClinVar
DHCR7	Q9UBM7	p.Trp286Ter	rs1555145877	stop gained	-	NC_000011.10:g.71437917C>T	-
DHCR7	Q9UBM7	p.Asn287Ser	rs765481717	missense variant	-	NC_000011.10:g.71437915T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Asn287Lys	rs766495775	missense variant	-	NC_000011.10:g.71437914G>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn287Lys	RCV000675015	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437914G>T	ClinVar
DHCR7	Q9UBM7	p.Glu288Lys	rs565893436	missense variant	-	NC_000011.10:g.71437913C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu288Lys	RCV000674146	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437913C>T	ClinVar
DHCR7	Q9UBM7	p.Thr289Ile	rs121909765	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71437909G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr289Ile	rs121909765	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437909G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Thr289Ile	VAR_012725	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437909G>A	UniProt
DHCR7	Q9UBM7	p.Thr289Ile	RCV000412788	missense variant	-	NC_000011.10:g.71437909G>A	ClinVar
DHCR7	Q9UBM7	p.Trp290Ter	rs774187452	stop gained	-	NC_000011.10:g.71437905C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp290Ter	RCV000667799	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437905C>T	ClinVar
DHCR7	Q9UBM7	p.Tyr291Ter	RCV000667615	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437902del	ClinVar
DHCR7	Q9UBM7	p.Thr294Ile	rs1179380860	missense variant	-	NC_000011.10:g.71437894G>A	gnomAD
DHCR7	Q9UBM7	p.Ile295Val	rs201574502	missense variant	-	NC_000011.10:g.71437892T>C	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile295Thr	rs904279662	missense variant	-	NC_000011.10:g.71437891A>G	gnomAD
DHCR7	Q9UBM7	p.Ile297Leu	rs1085307926	missense variant	-	NC_000011.10:g.71437886T>G	-
DHCR7	Q9UBM7	p.Ile297Leu	RCV000489393	missense variant	-	NC_000011.10:g.71437886T>G	ClinVar
DHCR7	Q9UBM7	p.Ile297Thr	VAR_023166	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Cys298Ter	rs769639753	stop gained	-	NC_000011.10:g.71437881G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Cys298Ter	RCV000668079	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437881G>T	ClinVar
DHCR7	Q9UBM7	p.His299Arg	rs1224039430	missense variant	-	NC_000011.10:g.71437879T>C	gnomAD
DHCR7	Q9UBM7	p.His299Tyr	rs745498103	missense variant	-	NC_000011.10:g.71437880G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.His301Arg	RCV000730533	missense variant	-	NC_000011.10:g.71437873T>C	ClinVar
DHCR7	Q9UBM7	p.His301Asn	rs1267495194	missense variant	-	NC_000011.10:g.71437874G>T	TOPMed
DHCR7	Q9UBM7	p.Phe302Leu	rs80338858	missense variant	-	NC_000011.10:g.71437869G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe302Leu	RCV000020440	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437869G>C	ClinVar
DHCR7	Q9UBM7	p.Gly303Arg	RCV000724095	missense variant	-	NC_000011.10:g.71437868C>T	ClinVar
DHCR7	Q9UBM7	p.Gly303Trp	rs142808899	missense variant	-	NC_000011.10:g.71437868C>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly303Arg	rs142808899	missense variant	-	NC_000011.10:g.71437868C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr305Ter	RCV000672544	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437860G>C	ClinVar
DHCR7	Q9UBM7	p.Tyr305Ter	rs1555145867	stop gained	-	NC_000011.10:g.71437860G>C	-
DHCR7	Q9UBM7	p.Trp308Ter	rs1392920633	stop gained	-	NC_000011.10:g.71437851C>T	gnomAD
DHCR7	Q9UBM7	p.Asp310Asn	rs370955781	missense variant	-	NC_000011.10:g.71437847C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Cys311Arg	rs1378799308	missense variant	-	NC_000011.10:g.71437844A>G	TOPMed
DHCR7	Q9UBM7	p.Cys311Gly	VAR_023167	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Cys311Tyr	VAR_023168	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Val312Ter	RCV000669792	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437841_71437842CA[1]	ClinVar
DHCR7	Q9UBM7	p.Trp313Ter	rs1555145862	stop gained	-	NC_000011.10:g.71437836C>T	-
DHCR7	Q9UBM7	p.Trp313Ter	RCV000664491	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437836C>T	ClinVar
DHCR7	Q9UBM7	p.Tyr316Cys	rs754992933	missense variant	-	NC_000011.10:g.71437828T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr318Phe	rs1457166572	missense variant	-	NC_000011.10:g.71437822T>A	gnomAD
DHCR7	Q9UBM7	p.Tyr318Asn	rs1177326550	missense variant	-	NC_000011.10:g.71437823A>T	gnomAD
DHCR7	Q9UBM7	p.Tyr318Ter	RCV000674698	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437825del	ClinVar
DHCR7	Q9UBM7	p.Thr319Ala	RCV000674430	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437820T>C	ClinVar
DHCR7	Q9UBM7	p.Thr319Arg	rs766583874	missense variant	-	NC_000011.10:g.71437819G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr319Ala	rs1362583959	missense variant	-	NC_000011.10:g.71437820T>C	gnomAD
DHCR7	Q9UBM7	p.Thr319Met	rs766583874	missense variant	-	NC_000011.10:g.71437819G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr319Lys	rs766583874	missense variant	-	NC_000011.10:g.71437819G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr319Met	RCV000780208	missense variant	-	NC_000011.10:g.71437819G>A	ClinVar
DHCR7	Q9UBM7	p.Gln321Leu	rs1255961569	missense variant	-	NC_000011.10:g.71437813T>A	gnomAD
DHCR7	Q9UBM7	p.Tyr324His	rs1173707321	missense variant	-	NC_000011.10:g.71435833A>G	gnomAD
DHCR7	Q9UBM7	p.Tyr324His	RCV000525900	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435833A>G	ClinVar
DHCR7	Q9UBM7	p.Val326Leu	rs80338859	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435827C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val326Leu	rs80338859	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Val326Leu	VAR_012726	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	UniProt
DHCR7	Q9UBM7	p.Val326Ala	rs1333822866	missense variant	-	NC_000011.10:g.71435826A>G	TOPMed
DHCR7	Q9UBM7	p.Val326Leu	RCV000007187	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	ClinVar
DHCR7	Q9UBM7	p.Tyr327Ter	rs1057516375	stop gained	-	NC_000011.10:g.71435822G>T	-
DHCR7	Q9UBM7	p.Tyr327Ter	RCV000411396	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435822G>T	ClinVar
DHCR7	Q9UBM7	p.His328Gln	rs1157736816	missense variant	-	NC_000011.10:g.71435819G>T	gnomAD
DHCR7	Q9UBM7	p.His328Asp	rs775805851	missense variant	-	NC_000011.10:g.71435821G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Pro329Ser	rs1468426794	missense variant	-	NC_000011.10:g.71435818G>A	gnomAD
DHCR7	Q9UBM7	p.Val330Met	RCV000763768	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435815C>T	ClinVar
DHCR7	Q9UBM7	p.Val330Leu	rs139724817	missense variant	-	NC_000011.10:g.71435815C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val330Met	rs139724817	missense variant	-	NC_000011.10:g.71435815C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val330Met	RCV000727172	missense variant	-	NC_000011.10:g.71435815C>T	ClinVar
DHCR7	Q9UBM7	p.Gln331Glu	rs1057516610	missense variant	-	NC_000011.10:g.71435812G>C	gnomAD
DHCR7	Q9UBM7	p.Gln331Ter	rs1057516610	stop gained	-	NC_000011.10:g.71435812G>A	gnomAD
DHCR7	Q9UBM7	p.Gln331Ter	RCV000409015	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435812G>A	ClinVar
DHCR7	Q9UBM7	p.Leu332Ter	RCV000411723	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435808del	ClinVar
DHCR7	Q9UBM7	p.Thr334Ala	rs757518371	missense variant	-	NC_000011.10:g.71435803T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr334Asn	rs748020179	missense variant	-	NC_000011.10:g.71435802G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr334Ile	rs748020179	missense variant	-	NC_000011.10:g.71435802G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Pro335Arg	rs77762671	missense variant	-	NC_000011.10:g.71435799G>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Pro335Ter	RCV000669414	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435802del	ClinVar
DHCR7	Q9UBM7	p.Pro335Leu	rs77762671	missense variant	-	NC_000011.10:g.71435799G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.His336Gln	rs75225632	missense variant	-	NC_000011.10:g.71435795G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala337Thr	rs749913821	missense variant	-	NC_000011.10:g.71435794C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Val338Met	rs72954276	missense variant	-	NC_000011.10:g.71435791C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val338Met	RCV000717914	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435791C>T	ClinVar
DHCR7	Q9UBM7	p.Val340Ile	RCV000551112	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435785C>T	ClinVar
DHCR7	Q9UBM7	p.Val340Ile	rs148081697	missense variant	-	NC_000011.10:g.71435785C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Leu341Pro	rs1317526744	missense variant	-	NC_000011.10:g.71435781A>G	gnomAD
DHCR7	Q9UBM7	p.Leu341Pro	RCV000666425	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435781A>G	ClinVar
DHCR7	Q9UBM7	p.Leu342Pro	rs199957106	missense variant	-	NC_000011.10:g.71435778A>G	1000Genomes
DHCR7	Q9UBM7	p.Leu342Pro	RCV000670470	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435778A>G	ClinVar
DHCR7	Q9UBM7	p.Gly344Asp	rs1409887214	missense variant	-	NC_000011.10:g.71435772C>T	gnomAD
DHCR7	Q9UBM7	p.Gly344Arg	VAR_023170	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Val346Glu	rs916217045	missense variant	-	NC_000011.10:g.71435766A>T	TOPMed
DHCR7	Q9UBM7	p.Gly347Val	rs770174208	missense variant	-	NC_000011.10:g.71435763C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr348Cys	rs1394025873	missense variant	-	NC_000011.10:g.71435760T>C	TOPMed
DHCR7	Q9UBM7	p.Arg352Leu	rs121909768	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435748C>A	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg352Trp	rs80338860	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg352Trp	VAR_012727	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	UniProt
DHCR7	Q9UBM7	p.Arg352Trp	rs80338860	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435749G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg352Gln	rs121909768	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435748C>T	1000Genomes,ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg352Gln	rs121909768	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg352Gln	VAR_023171	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	UniProt
DHCR7	Q9UBM7	p.Arg352Gln	RCV000007197	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	ClinVar
DHCR7	Q9UBM7	p.Arg352Gln	RCV000254828	missense variant	-	NC_000011.10:g.71435748C>T	ClinVar
DHCR7	Q9UBM7	p.Arg352Trp	RCV000259783	missense variant	-	NC_000011.10:g.71435749G>A	ClinVar
DHCR7	Q9UBM7	p.Arg352Trp	RCV000007189	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	ClinVar
DHCR7	Q9UBM7	p.Val353Met	rs1449289649	missense variant	-	NC_000011.10:g.71435746C>T	gnomAD
DHCR7	Q9UBM7	p.Val353Ter	RCV000666554	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748del	ClinVar
DHCR7	Q9UBM7	p.Val353Ala	VAR_023172	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Ala354Thr	rs571923299	missense variant	-	NC_000011.10:g.71435743C>T	1000Genomes,gnomAD
DHCR7	Q9UBM7	p.Asn355Asp	rs1309736876	missense variant	-	NC_000011.10:g.71435740T>C	TOPMed
DHCR7	Q9UBM7	p.His356Ter	RCV000409736	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435738del	ClinVar
DHCR7	Q9UBM7	p.Gln357His	rs768526200	missense variant	-	NC_000011.10:g.71435732C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Lys358Thr	rs1243340265	missense variant	-	NC_000011.10:g.71435730T>G	TOPMed
DHCR7	Q9UBM7	p.Leu360Pro	RCV000668758	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435724A>G	ClinVar
DHCR7	Q9UBM7	p.Leu360Pro	rs1555145619	missense variant	-	NC_000011.10:g.71435724A>G	-
DHCR7	Q9UBM7	p.Phe361Leu	rs780088227	missense variant	-	NC_000011.10:g.71435720G>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe361Leu	RCV000292578	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435720G>T	ClinVar
DHCR7	Q9UBM7	p.Phe361Ter	RCV000410733	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435723_71435724del	ClinVar
DHCR7	Q9UBM7	p.Arg362Cys	rs371302153	missense variant	-	NC_000011.10:g.71435719G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg362His	rs142213147	missense variant	-	NC_000011.10:g.71435718C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg362Ser	rs371302153	missense variant	-	NC_000011.10:g.71435719G>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg362Leu	rs142213147	missense variant	-	NC_000011.10:g.71435718C>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg363His	rs200539324	missense variant	-	NC_000011.10:g.71435715C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg363Cys	rs547012639	missense variant	-	NC_000011.10:g.71435716G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg363Leu	rs200539324	missense variant	-	NC_000011.10:g.71435715C>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr364Met	rs567600444	missense variant	-	NC_000011.10:g.71435712G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Thr364Ala	rs1085307925	missense variant	-	NC_000011.10:g.71435713T>C	-
DHCR7	Q9UBM7	p.Thr364Met	RCV000386515	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435712G>A	ClinVar
DHCR7	Q9UBM7	p.Thr364Met	RCV000731830	missense variant	-	NC_000011.10:g.71435712G>A	ClinVar
DHCR7	Q9UBM7	p.Thr364Met	RCV000717252	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435712G>A	ClinVar
DHCR7	Q9UBM7	p.Thr364Met	RCV000503164	missense variant	-	NC_000011.10:g.71435712G>A	ClinVar
DHCR7	Q9UBM7	p.Thr364Ala	RCV000489040	missense variant	-	NC_000011.10:g.71435713T>C	ClinVar
DHCR7	Q9UBM7	p.Gly366Val	RCV000666844	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435706C>A	ClinVar
DHCR7	Q9UBM7	p.Gly366Val	rs1555145614	missense variant	-	NC_000011.10:g.71435706C>A	-
DHCR7	Q9UBM7	p.Arg367His	rs765908713	missense variant	-	NC_000011.10:g.71435703C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg367Cys	rs531038145	missense variant	-	NC_000011.10:g.71435704G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg367Cys	RCV000259933	missense variant	-	NC_000011.10:g.71435704G>A	ClinVar
DHCR7	Q9UBM7	p.Arg367Cys	RCV000719857	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435704G>A	ClinVar
DHCR7	Q9UBM7	p.Ile370Leu	rs1489954663	missense variant	-	NC_000011.10:g.71435695T>G	gnomAD
DHCR7	Q9UBM7	p.Ile370Thr	rs1371215955	missense variant	-	NC_000011.10:g.71435694A>G	TOPMed
DHCR7	Q9UBM7	p.Trp371Arg	rs1467146122	missense variant	-	NC_000011.10:g.71435692A>G	TOPMed
DHCR7	Q9UBM7	p.Trp371Ter	rs1294449428	stop gained	-	NC_000011.10:g.71435690C>T	gnomAD
DHCR7	Q9UBM7	p.Gly372Cys	rs760104729	missense variant	-	NC_000011.10:g.71435689C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly372Arg	rs760104729	missense variant	-	NC_000011.10:g.71435689C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly372Ser	rs760104729	missense variant	-	NC_000011.10:g.71435689C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg373Gly	rs1322012743	missense variant	-	NC_000011.10:g.71435686T>C	gnomAD
DHCR7	Q9UBM7	p.Lys376Arg	rs771137757	missense variant	-	NC_000011.10:g.71435676T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Lys376Glu	rs777218262	missense variant	-	NC_000011.10:g.71435677T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile378Met	rs773505265	missense variant	-	NC_000011.10:g.71435669G>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile378Val	rs1278791188	missense variant	-	NC_000011.10:g.71435671T>C	gnomAD
DHCR7	Q9UBM7	p.Glu379Lys	rs772162793	missense variant	-	NC_000011.10:g.71435668C>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Cys380Phe	rs779709646	missense variant	-	NC_000011.10:g.71435664C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Cys380Tyr	rs779709646	missense variant	-	NC_000011.10:g.71435664C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Cys380Arg	rs373306653	missense variant	-	NC_000011.10:g.71435665A>G	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Cys380Arg	rs373306653	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Cys380Arg	VAR_023174	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	UniProt
DHCR7	Q9UBM7	p.Cys380Ter	rs769783115	stop gained	-	NC_000011.10:g.71435663G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Cys380Arg	RCV000408382	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	ClinVar
DHCR7	Q9UBM7	p.Cys380Tyr	RCV000169472	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435664C>T	ClinVar
DHCR7	Q9UBM7	p.Cys380Arg	RCV000725474	missense variant	-	NC_000011.10:g.71435665A>G	ClinVar
DHCR7	Q9UBM7	p.Cys380Ser	VAR_012728	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Tyr382Ter	RCV000667423	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435657G>T	ClinVar
DHCR7	Q9UBM7	p.Tyr382Ter	rs1555145605	stop gained	-	NC_000011.10:g.71435657G>T	-
DHCR7	Q9UBM7	p.Thr383Ile	rs745820609	missense variant	-	NC_000011.10:g.71435655G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser384Cys	rs781043327	missense variant	-	NC_000011.10:g.71435652G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala385Gly	rs12577137	missense variant	-	NC_000011.10:g.71435649G>C	gnomAD
DHCR7	Q9UBM7	p.Ala385Thr	rs750989470	missense variant	-	NC_000011.10:g.71435650C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala385Val	rs12577137	missense variant	-	NC_000011.10:g.71435649G>A	gnomAD
DHCR7	Q9UBM7	p.Asp386Asn	rs369837196	missense variant	-	NC_000011.10:g.71435647C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asp386Glu	rs760241	missense variant	-	NC_000011.10:g.71435645A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly387Arg	rs765707139	missense variant	-	NC_000011.10:g.71435644C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly387Arg	rs765707139	missense variant	-	NC_000011.10:g.71435644C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg389Lys	rs755325060	missense variant	-	NC_000011.10:g.71435637C>T	ExAC,TOPMed
DHCR7	Q9UBM7	p.His390Arg	rs766943022	missense variant	-	NC_000011.10:g.71435634T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.His390Tyr	rs544442568	missense variant	-	NC_000011.10:g.71435635G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.His391Leu	rs1284886726	missense variant	-	NC_000011.10:g.71435631T>A	gnomAD
DHCR7	Q9UBM7	p.Val396Met	rs1011956734	missense variant	-	NC_000011.10:g.71435617C>T	TOPMed
DHCR7	Q9UBM7	p.Val396Glu	rs760857590	missense variant	-	NC_000011.10:g.71435616A>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ser397Leu	rs773134475	missense variant	-	NC_000011.10:g.71435613G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Phe399Tyr	rs1205529414	missense variant	-	NC_000011.10:g.71435607A>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Trp400Leu	rs1057516493	missense variant	-	NC_000011.10:g.71435604C>A	TOPMed
DHCR7	Q9UBM7	p.Trp400Ter	rs1057516493	stop gained	-	NC_000011.10:g.71435604C>T	TOPMed
DHCR7	Q9UBM7	p.Trp400Ter	RCV000411064	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435604C>T	ClinVar
DHCR7	Q9UBM7	p.Gly401Ser	rs1401116131	missense variant	-	NC_000011.10:g.71435602C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val402Leu	rs200099137	missense variant	-	NC_000011.10:g.71435599C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val402Met	rs200099137	missense variant	-	NC_000011.10:g.71435599C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala403Thr	rs969937612	missense variant	-	NC_000011.10:g.71435596C>T	TOPMed
DHCR7	Q9UBM7	p.Ala403Pro	rs969937612	missense variant	-	NC_000011.10:g.71435596C>G	TOPMed
DHCR7	Q9UBM7	p.Arg404Gly	rs61757582	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435593G>C	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg404Ser	rs61757582	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg404Ser	VAR_023177	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	UniProt
DHCR7	Q9UBM7	p.Arg404Ser	rs61757582	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435593G>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg404Cys	rs61757582	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435593G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg404Cys	rs61757582	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg404Cys	VAR_012729	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	UniProt
DHCR7	Q9UBM7	p.Arg404Ser	RCV000668128	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	ClinVar
DHCR7	Q9UBM7	p.Arg404Gly	RCV000674716	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>C	ClinVar
DHCR7	Q9UBM7	p.Arg404Cys	RCV000007190	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	ClinVar
DHCR7	Q9UBM7	p.Arg404Cys	RCV000723830	missense variant	-	NC_000011.10:g.71435593G>A	ClinVar
DHCR7	Q9UBM7	p.His405Gln	rs776577137	missense variant	-	NC_000011.10:g.71435588G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.His405Tyr	VAR_023178	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
DHCR7	Q9UBM7	p.Asn407Lys	rs1481450955	missense variant	-	NC_000011.10:g.71435582G>T	gnomAD
DHCR7	Q9UBM7	p.Asn407Ser	rs746591926	missense variant	-	NC_000011.10:g.71435583T>C	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asn407Tyr	rs770819693	missense variant	-	NC_000011.10:g.71435584T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr408Cys	rs1219026826	missense variant	-	NC_000011.10:g.71435580T>C	gnomAD
DHCR7	Q9UBM7	p.Tyr408His	rs1046560765	missense variant	-	NC_000011.10:g.71435581A>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr408His	RCV000667912	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435581A>G	ClinVar
DHCR7	Q9UBM7	p.Val409Ile	rs757861528	missense variant	-	NC_000011.10:g.71435578C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val409Ile	RCV000597434	missense variant	-	NC_000011.10:g.71435578C>T	ClinVar
DHCR7	Q9UBM7	p.Gly410Arg	rs80338862	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly410Arg	VAR_023180	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>G	UniProt
DHCR7	Q9UBM7	p.Gly410Arg	rs80338862	missense variant	-	NC_000011.10:g.71435575C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly410Ser	rs80338862	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly410Ser	VAR_012730	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>T	UniProt
DHCR7	Q9UBM7	p.Gly410Ser	rs80338862	missense variant	-	NC_000011.10:g.71435575C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly410Ser	RCV000720023	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435575C>T	ClinVar
DHCR7	Q9UBM7	p.Gly410Ser	RCV000079640	missense variant	-	NC_000011.10:g.71435575C>T	ClinVar
DHCR7	Q9UBM7	p.Gly410Ser	RCV000020434	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>T	ClinVar
DHCR7	Q9UBM7	p.Asp411Asn	rs372055524	missense variant	-	NC_000011.10:g.71435572C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Asp411Asn	RCV000666753	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435572C>T	ClinVar
DHCR7	Q9UBM7	p.Gly414Arg	rs755426995	missense variant	-	NC_000011.10:g.71435563C>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ser415Gly	rs754224400	missense variant	-	NC_000011.10:g.71435560T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ala417Val	rs894897580	missense variant	-	NC_000011.10:g.71435553G>A	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Tyr418Cys	rs1053502314	missense variant	-	NC_000011.10:g.71435550T>C	TOPMed
DHCR7	Q9UBM7	p.Cys422Arg	rs750582708	missense variant	-	NC_000011.10:g.71435539A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly423Ser	rs902179640	missense variant	-	NC_000011.10:g.71435536C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly423Ser	RCV000485125	missense variant	-	NC_000011.10:g.71435536C>T	ClinVar
DHCR7	Q9UBM7	p.Gly424Cys	rs368150818	missense variant	-	NC_000011.10:g.71435533C>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly424Ser	rs368150818	missense variant	-	NC_000011.10:g.71435533C>T	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly424Ser	RCV000513082	missense variant	-	NC_000011.10:g.71435533C>T	ClinVar
DHCR7	Q9UBM7	p.Gly425Asp	rs1182384703	missense variant	-	NC_000011.10:g.71435529C>T	gnomAD
DHCR7	Q9UBM7	p.Gly425Ser	rs760242	missense variant	-	NC_000011.10:g.71435530C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Gly425Ser	VAR_052154	missense variant	-	NC_000011.10:g.71435530C>T	UniProt
DHCR7	Q9UBM7	p.Gly425Ser	rs760242	missense variant	-	NC_000011.10:g.71435530C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly425Ser	RCV000316974	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435530C>T	ClinVar
DHCR7	Q9UBM7	p.Gly425Ser	RCV000595632	missense variant	-	NC_000011.10:g.71435530C>T	ClinVar
DHCR7	Q9UBM7	p.His426Pro	rs1354718634	missense variant	-	NC_000011.10:g.71435526T>G	TOPMed
DHCR7	Q9UBM7	p.His426Pro	rs1354718634	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435526T>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.His426Pro	VAR_023181	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435526T>G	UniProt
DHCR7	Q9UBM7	p.His426Gln	rs770971876	missense variant	-	NC_000011.10:g.71435525G>T	ExAC
DHCR7	Q9UBM7	p.His426Tyr	rs776401706	missense variant	-	NC_000011.10:g.71435527G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.His426Pro	RCV000669736	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435526T>G	ClinVar
DHCR7	Q9UBM7	p.Leu428Val	rs1221791403	missense variant	-	NC_000011.10:g.71435521G>C	TOPMed
DHCR7	Q9UBM7	p.Pro429Leu	rs1449741699	missense variant	-	NC_000011.10:g.71435517G>A	TOPMed
DHCR7	Q9UBM7	p.Pro429Arg	rs1449741699	missense variant	-	NC_000011.10:g.71435517G>C	TOPMed
DHCR7	Q9UBM7	p.Tyr430Ter	rs140791666	stop gained	-	NC_000011.10:g.71435513G>C	ESP,ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr430Phe	rs1485535452	missense variant	-	NC_000011.10:g.71435514T>A	gnomAD
DHCR7	Q9UBM7	p.Phe431Leu	rs1217685553	missense variant	-	NC_000011.10:g.71435512A>G	gnomAD
DHCR7	Q9UBM7	p.Tyr432His	rs747656720	missense variant	-	NC_000011.10:g.71435509A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ile433Val	rs1244124212	missense variant	-	NC_000011.10:g.71435506T>C	gnomAD
DHCR7	Q9UBM7	p.Ile434Val	rs375187933	missense variant	-	NC_000011.10:g.71435503T>C	ESP,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Met436Val	rs1313621076	missense variant	-	NC_000011.10:g.71435497T>C	gnomAD
DHCR7	Q9UBM7	p.Ala437Thr	rs1382147285	missense variant	-	NC_000011.10:g.71435494C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ile438Met	rs778750039	missense variant	-	NC_000011.10:g.71435489G>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Leu440Val	rs1381722107	missense variant	-	NC_000011.10:g.71435485G>C	TOPMed
DHCR7	Q9UBM7	p.Thr441Ser	rs749728888	missense variant	-	NC_000011.10:g.71435482T>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Thr441Ile	rs1439949765	missense variant	-	NC_000011.10:g.71435481G>A	TOPMed
DHCR7	Q9UBM7	p.Arg443Leu	rs781687341	missense variant	-	NC_000011.10:g.71435475C>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg443Cys	RCV000673491	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435476G>A	ClinVar
DHCR7	Q9UBM7	p.Arg443His	rs781687341	missense variant	-	NC_000011.10:g.71435475C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg443Pro	rs781687341	missense variant	-	NC_000011.10:g.71435475C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg443Cys	rs535561852	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435476G>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg443Cys	VAR_023182	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435476G>A	UniProt
DHCR7	Q9UBM7	p.Arg443Cys	rs535561852	missense variant	-	NC_000011.10:g.71435476G>A	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg443His	RCV000449623	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435475C>T	ClinVar
DHCR7	Q9UBM7	p.Leu445Phe	rs1369678480	missense variant	-	NC_000011.10:g.71435470G>A	gnomAD
DHCR7	Q9UBM7	p.Leu445Val	rs1369678480	missense variant	-	NC_000011.10:g.71435470G>C	gnomAD
DHCR7	Q9UBM7	p.Arg446Trp	RCV000666265	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435467G>A	ClinVar
DHCR7	Q9UBM7	p.Arg446Trp	rs145043679	missense variant	-	NC_000011.10:g.71435467G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg446Gln	rs751604696	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435466C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg446Gln	VAR_023183	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435466C>T	UniProt
DHCR7	Q9UBM7	p.Arg446Gln	rs751604696	missense variant	-	NC_000011.10:g.71435466C>T	ExAC,TOPMed
DHCR7	Q9UBM7	p.Arg446Gln	RCV000716262	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435466C>T	ClinVar
DHCR7	Q9UBM7	p.Asp447His	rs1427783663	missense variant	-	NC_000011.10:g.71435464C>G	gnomAD
DHCR7	Q9UBM7	p.Asp447Asn	rs1427783663	missense variant	-	NC_000011.10:g.71435464C>T	gnomAD
DHCR7	Q9UBM7	p.Asp447Glu	rs139721775	missense variant	-	NC_000011.10:g.71435462G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu448Gln	rs80338864	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>G	UniProt,dbSNP
DHCR7	Q9UBM7	p.Glu448Gln	VAR_023184	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>G	UniProt
DHCR7	Q9UBM7	p.Glu448Gln	rs80338864	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435461C>G	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu448Lys	RCV000020435	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>T	ClinVar
DHCR7	Q9UBM7	p.Glu448Lys	rs80338864	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435461C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Glu448Lys	rs80338864	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>T	UniProt,dbSNP
DHCR7	Q9UBM7	p.Glu448Lys	VAR_016975	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>T	UniProt
DHCR7	Q9UBM7	p.Glu448Gln	RCV000670693	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>G	ClinVar
DHCR7	Q9UBM7	p.His449Tyr	rs758040709	missense variant	-	NC_000011.10:g.71435458G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg450His	rs542266962	missense variant	-	NC_000011.10:g.71435454C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg450Leu	rs542266962	missense variant	-	NC_000011.10:g.71435454C>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg450Leu	rs542266962	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435454C>A	UniProt,dbSNP
DHCR7	Q9UBM7	p.Arg450Leu	VAR_023185	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435454C>A	UniProt
DHCR7	Q9UBM7	p.Arg450His	RCV000718621	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435454C>T	ClinVar
DHCR7	Q9UBM7	p.Arg450Cys	rs765154144	missense variant	-	NC_000011.10:g.71435455G>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg450Ter	RCV000316051	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435456del	ClinVar
DHCR7	Q9UBM7	p.Arg450Ter	RCV000725059	frameshift	-	NC_000011.10:g.71435456del	ClinVar
DHCR7	Q9UBM7	p.Arg450His	RCV000674850	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435454C>T	ClinVar
DHCR7	Q9UBM7	p.Cys451Arg	rs761458977	missense variant	-	NC_000011.10:g.71435452A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Cys451Tyr	rs1325144749	missense variant	-	NC_000011.10:g.71435451C>T	gnomAD
DHCR7	Q9UBM7	p.Ala452Thr	rs140400648	missense variant	-	NC_000011.10:g.71435449C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ser453Thr	rs768489010	missense variant	-	NC_000011.10:g.71435445C>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly456Ser	rs201847193	missense variant	-	NC_000011.10:g.71435437C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Gly456Val	rs746201510	missense variant	-	NC_000011.10:g.71435436C>A	ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg457Gln	rs886043122	missense variant	-	NC_000011.10:g.71435433C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg457Trp	rs371873032	missense variant	-	NC_000011.10:g.71435434G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg457Gln	RCV000324086	missense variant	-	NC_000011.10:g.71435433C>T	ClinVar
DHCR7	Q9UBM7	p.Arg457Gln	RCV000763767	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435433C>T	ClinVar
DHCR7	Q9UBM7	p.Asp458Tyr	rs1473523418	missense variant	-	NC_000011.10:g.71435431C>A	TOPMed
DHCR7	Q9UBM7	p.Trp459Ter	RCV000674614	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435427C>T	ClinVar
DHCR7	Q9UBM7	p.Trp459Ter	rs1555145550	stop gained	-	NC_000011.10:g.71435427C>T	-
DHCR7	Q9UBM7	p.Glu460Gly	rs777838196	missense variant	-	NC_000011.10:g.71435424T>C	ExAC,gnomAD
DHCR7	Q9UBM7	p.Arg461Cys	rs199506852	missense variant	-	NC_000011.10:g.71435422G>A	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg461His	rs1197033218	missense variant	-	NC_000011.10:g.71435421C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg461Cys	RCV000356607	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435422G>A	ClinVar
DHCR7	Q9UBM7	p.Arg461Cys	RCV000501047	missense variant	-	NC_000011.10:g.71435422G>A	ClinVar
DHCR7	Q9UBM7	p.Arg461Cys	RCV000731766	missense variant	-	NC_000011.10:g.71435422G>A	ClinVar
DHCR7	Q9UBM7	p.Tyr462His	rs201270451	missense variant	-	NC_000011.10:g.71435419A>G	-
DHCR7	Q9UBM7	p.Tyr462Ter	rs1453500228	stop gained	-	NC_000011.10:g.71435417G>T	gnomAD
DHCR7	Q9UBM7	p.Tyr462Ter	RCV000671232	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435417G>T	ClinVar
DHCR7	Q9UBM7	p.Tyr462His	RCV000411557	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435419A>G	ClinVar
DHCR7	Q9UBM7	p.Ala464Thr	rs566784842	missense variant	-	NC_000011.10:g.71435413C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala465Pro	rs1253213550	missense variant	-	NC_000011.10:g.71435410C>G	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Ala465Val	rs1219768413	missense variant	-	NC_000011.10:g.71435409G>A	gnomAD
DHCR7	Q9UBM7	p.Ala465Thr	rs1253213550	missense variant	-	NC_000011.10:g.71435410C>T	TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val466Met	rs760428437	missense variant	-	NC_000011.10:g.71435407C>T	ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Val466Met	RCV000255209	missense variant	-	NC_000011.10:g.71435407C>T	ClinVar
DHCR7	Q9UBM7	p.Pro467Thr	rs750211727	missense variant	-	NC_000011.10:g.71435404G>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Tyr468His	rs1245549808	missense variant	-	NC_000011.10:g.71435401A>G	TOPMed
DHCR7	Q9UBM7	p.Arg469Pro	RCV000519844	missense variant	-	NC_000011.10:g.71435397C>G	ClinVar
DHCR7	Q9UBM7	p.Arg469Pro	rs201150384	missense variant	-	NC_000011.10:g.71435397C>G	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg469Cys	rs148660993	missense variant	-	NC_000011.10:g.71435398G>A	ESP,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg469His	rs201150384	missense variant	-	NC_000011.10:g.71435397C>T	1000Genomes,ExAC,TOPMed,gnomAD
DHCR7	Q9UBM7	p.Arg469Cys	RCV000665167	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435398G>A	ClinVar
DHCR7	Q9UBM7	p.Arg469Pro	RCV000670231	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435397C>G	ClinVar
DHCR7	Q9UBM7	p.Leu470Arg	rs1331331095	missense variant	-	NC_000011.10:g.71435394A>C	gnomAD
DHCR7	Q9UBM7	p.Leu470Gln	rs1331331095	missense variant	-	NC_000011.10:g.71435394A>T	gnomAD
DHCR7	Q9UBM7	p.Leu470Gln	RCV000622787	missense variant	Inborn genetic diseases	NC_000011.10:g.71435394A>T	ClinVar
DHCR7	Q9UBM7	p.Leu471Pro	rs766709599	missense variant	-	NC_000011.10:g.71435391A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Gly473Arg	rs1428527242	missense variant	-	NC_000011.10:g.71435386C>T	gnomAD
DHCR7	Q9UBM7	p.Ile474Val	rs1173923264	missense variant	-	NC_000011.10:g.71435383T>C	gnomAD
DHCR7	Q9UBM7	p.Phe475Leu	rs1378025166	missense variant	-	NC_000011.10:g.71435378G>C	gnomAD
DHCR7	Q9UBM7	p.Phe475Ser	rs1478872904	missense variant	-	NC_000011.10:g.71435379A>G	gnomAD
DHCR7	Q9UBM7	p.Ter476Lys	rs775034584	stop lost	-	NC_000011.10:g.71435377A>T	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ter476Gln	rs775034584	stop lost	-	NC_000011.10:g.71435377A>G	ExAC,gnomAD
DHCR7	Q9UBM7	p.Ter476Gln	RCV000169316	stop lost	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435377A>G	ClinVar
DHCR7	Q9UBM7	p.Ter476Lys	RCV000674641	stop lost	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435377A>T	ClinVar
IFT172	Q9UG01	p.His2Pro	rs781257867	missense variant	-	NC_000002.12:g.27489649T>G	ExAC,gnomAD
IFT172	Q9UG01	p.His2Gln	rs1430470069	missense variant	-	NC_000002.12:g.27489648G>T	TOPMed,gnomAD
IFT172	Q9UG01	p.His2Asn	rs752135960	missense variant	-	NC_000002.12:g.27489650G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Leu3Trp	rs1246454433	missense variant	-	NC_000002.12:g.27489646A>C	gnomAD
IFT172	Q9UG01	p.His5Tyr	rs754840856	missense variant	-	NC_000002.12:g.27489641G>A	ExAC,gnomAD
IFT172	Q9UG01	p.His5Asp	rs754840856	missense variant	-	NC_000002.12:g.27489641G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Leu6Val	rs1245102913	missense variant	-	NC_000002.12:g.27489638G>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg7Lys	rs766303251	missense variant	-	NC_000002.12:g.27489634C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg7Met	rs766303251	missense variant	-	NC_000002.12:g.27489634C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr8Ser	rs933834225	missense variant	-	NC_000002.12:g.27489632T>A	TOPMed
IFT172	Q9UG01	p.Ser11Asn	rs1252190644	missense variant	-	NC_000002.12:g.27489622C>T	gnomAD
IFT172	Q9UG01	p.Gln13Arg	rs762799040	missense variant	-	NC_000002.12:g.27489616T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ala16Pro	rs1446973289	missense variant	-	NC_000002.12:g.27485497C>G	TOPMed
IFT172	Q9UG01	p.Lys18Gln	rs780549551	missense variant	-	NC_000002.12:g.27485491T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Lys18Arg	rs146548956	missense variant	-	NC_000002.12:g.27485490T>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Thr20Ile	rs751486617	missense variant	-	NC_000002.12:g.27485484G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Met22Val	rs1330779497	missense variant	-	NC_000002.12:g.27485479T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Trp24Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.27485472C>T	NCI-TCGA
IFT172	Q9UG01	p.Trp24Ser	rs1369711394	missense variant	-	NC_000002.12:g.27485472C>G	gnomAD
IFT172	Q9UG01	p.Trp24Gly	rs780072358	missense variant	-	NC_000002.12:g.27485473A>C	ExAC,gnomAD
IFT172	Q9UG01	p.Gln26Arg	rs758324408	missense variant	-	NC_000002.12:g.27485466T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Gln26His	rs1425471550	missense variant	-	NC_000002.12:g.27485465C>A	gnomAD
IFT172	Q9UG01	p.Asn28Ser	rs750235850	missense variant	-	NC_000002.12:g.27485460T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ala29Val	rs1161494896	missense variant	-	NC_000002.12:g.27485457G>A	gnomAD
IFT172	Q9UG01	p.Phe31Ser	rs1472492385	missense variant	-	NC_000002.12:g.27485451A>G	gnomAD
IFT172	Q9UG01	p.Val33Ala	rs200884031	missense variant	-	NC_000002.12:g.27485445A>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr35Pro	rs761913977	missense variant	-	NC_000002.12:g.27485440T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Thr35Ile	COSM4947164	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27485439G>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Arg38Ter	RCV000190597	nonsense	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27485431G>A	ClinVar
IFT172	Q9UG01	p.Arg38Ter	rs139021548	stop gained	-	NC_000002.12:g.27485431G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg38Gln	rs552861632	missense variant	-	NC_000002.12:g.27485430C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg38Pro	rs552861632	missense variant	-	NC_000002.12:g.27485430C>G	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg38Gly	rs139021548	missense variant	-	NC_000002.12:g.27485431G>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu42Met	rs1007620906	missense variant	-	NC_000002.12:g.27485419G>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr43Cys	rs1473980860	missense variant	-	NC_000002.12:g.27485415T>C	TOPMed
IFT172	Q9UG01	p.Glu45Ala	rs1221471858	missense variant	-	NC_000002.12:g.27485409T>G	gnomAD
IFT172	Q9UG01	p.Glu45Asp	rs1350745027	missense variant	-	NC_000002.12:g.27485408T>A	TOPMed,gnomAD
IFT172	Q9UG01	p.His46Leu	rs1280850403	missense variant	-	NC_000002.12:g.27485406T>A	TOPMed,gnomAD
IFT172	Q9UG01	p.His46Arg	rs1280850403	missense variant	-	NC_000002.12:g.27485406T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Gly47Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27485403C>T	NCI-TCGA
IFT172	Q9UG01	p.Arg49Gln	rs151097967	missense variant	-	NC_000002.12:g.27485397C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg49Trp	rs141043554	missense variant	-	NC_000002.12:g.27485398G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg50Lys	rs1046047303	missense variant	-	NC_000002.12:g.27485394C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Asp51Glu	rs537341371	missense variant	-	NC_000002.12:g.27485390A>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Lys52Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27485388T>G	NCI-TCGA
IFT172	Q9UG01	p.Phe53Ile	rs776310391	missense variant	-	NC_000002.12:g.27485386A>T	ExAC
IFT172	Q9UG01	p.Phe53Leu	rs768058682	missense variant	-	NC_000002.12:g.27485384G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr55Ser	rs746462745	missense variant	-	NC_000002.12:g.27485379G>C	ExAC
IFT172	Q9UG01	p.Lys56Thr	rs780205001	missense variant	-	NC_000002.12:g.27485376T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Met60Val	rs758377122	missense variant	-	NC_000002.12:g.27485365T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys61Asn	rs745703364	missense variant	-	NC_000002.12:g.27485360C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg64Lys	rs1214968975	missense variant	-	NC_000002.12:g.27485123C>T	gnomAD
IFT172	Q9UG01	p.Lys65Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27485120T>G	NCI-TCGA
IFT172	Q9UG01	p.Lys65Asn	rs749094840	missense variant	-	NC_000002.12:g.27485119C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Lys65Glu	rs77598375	missense variant	-	NC_000002.12:g.27485121T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ser66Asn	rs1337472006	missense variant	-	NC_000002.12:g.27485117C>T	gnomAD
IFT172	Q9UG01	p.Ser66Cys	rs777925178	missense variant	-	NC_000002.12:g.27485118T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr67Ser	rs1450739446	missense variant	-	NC_000002.12:g.27485114T>G	gnomAD
IFT172	Q9UG01	p.Met68Ile	rs1467002304	missense variant	-	NC_000002.12:g.27485110C>T	TOPMed
IFT172	Q9UG01	p.Met68Arg	rs1357949641	missense variant	-	NC_000002.12:g.27485111A>C	gnomAD
IFT172	Q9UG01	p.Val69Met	rs756299134	missense variant	-	NC_000002.12:g.27485109C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val69Gly	rs1410849775	missense variant	-	NC_000002.12:g.27485108A>C	gnomAD
IFT172	Q9UG01	p.Gly71Asp	rs1392472019	missense variant	-	NC_000002.12:g.27485102C>T	gnomAD
IFT172	Q9UG01	p.Phe74SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27485093_27485094insG	NCI-TCGA
IFT172	Q9UG01	p.Asp77Gly	rs767606993	missense variant	-	NC_000002.12:g.27485084T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ser78Phe	rs182323013	missense variant	-	NC_000002.12:g.27485081G>A	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Thr79Ile	rs1482208473	missense variant	-	NC_000002.12:g.27485078G>A	gnomAD
IFT172	Q9UG01	p.Thr79Ser	rs1482208473	missense variant	-	NC_000002.12:g.27485078G>C	gnomAD
IFT172	Q9UG01	p.Thr79Ala	rs752069515	missense variant	-	NC_000002.12:g.27485079T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys80Thr	rs766853711	missense variant	-	NC_000002.12:g.27485075T>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys80Glu	rs1236871475	missense variant	-	NC_000002.12:g.27485076T>C	gnomAD
IFT172	Q9UG01	p.Ala82Ser	rs1398648274	missense variant	-	NC_000002.12:g.27485070C>A	TOPMed
IFT172	Q9UG01	p.Ile83Val	rs142227350	missense variant	-	NC_000002.12:g.27485067T>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile83Met	rs773591358	missense variant	-	NC_000002.12:g.27485065T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile83Thr	COSM1019719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27485066A>G	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Gly84Arg	rs1220923945	missense variant	-	NC_000002.12:g.27485064C>G	TOPMed
IFT172	Q9UG01	p.Gln85Leu	rs1315759776	missense variant	-	NC_000002.12:g.27485060T>A	gnomAD
IFT172	Q9UG01	p.Gln85Arg	rs1315759776	missense variant	-	NC_000002.12:g.27485060T>C	gnomAD
IFT172	Q9UG01	p.Asp87Asn	rs771712132	missense variant	-	NC_000002.12:g.27485055C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Asn88Ser	rs1443634104	missense variant	-	NC_000002.12:g.27485051T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr91Cys	rs1487026215	missense variant	-	NC_000002.12:g.27485042T>C	TOPMed
IFT172	Q9UG01	p.Val92Ala	rs1306568500	missense variant	-	NC_000002.12:g.27485039A>G	gnomAD
IFT172	Q9UG01	p.Tyr93Cys	rs774211857	missense variant	-	NC_000002.12:g.27485036T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Lys94Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27485032C>G	NCI-TCGA
IFT172	Q9UG01	p.Ile95Thr	rs777604071	missense variant	-	NC_000002.12:g.27485030A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gly96Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.27485028C>A	NCI-TCGA
IFT172	Q9UG01	p.Glu97Asp	rs189236939	missense variant	-	NC_000002.12:g.27485023T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly100Ala	rs77414825	missense variant	-	NC_000002.12:g.27484264C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gly100Asp	rs77414825	missense variant	-	NC_000002.12:g.27484264C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Lys102Thr	rs1417967814	missense variant	-	NC_000002.12:g.27484258T>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Cys106Gly	rs1176427334	missense variant	-	NC_000002.12:g.27484247A>C	TOPMed
IFT172	Q9UG01	p.Phe109Leu	rs762960466	missense variant	-	NC_000002.12:g.27484236G>T	gnomAD
IFT172	Q9UG01	p.Phe109Leu	rs542128061	missense variant	-	NC_000002.12:g.27484238A>G	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Ile110Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27484235T>C	NCI-TCGA
IFT172	Q9UG01	p.Ile110Phe	rs747883999	missense variant	-	NC_000002.12:g.27484235T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln111Arg	rs1423053908	missense variant	-	NC_000002.12:g.27484231T>C	TOPMed
IFT172	Q9UG01	p.Gln111Glu	rs781453446	missense variant	-	NC_000002.12:g.27484232G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Thr112Met	rs191146686	missense variant	-	NC_000002.12:g.27484228G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr112Pro	rs768864867	missense variant	-	NC_000002.12:g.27484229T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ser113Asn	rs778306652	missense variant	-	NC_000002.12:g.27483936C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ser113Gly	rs1339707073	missense variant	-	NC_000002.12:g.27483937T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Thr116Ile	rs751230602	missense variant	-	NC_000002.12:g.27483927G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys117Tyr	rs1395446219	missense variant	-	NC_000002.12:g.27483924C>T	gnomAD
IFT172	Q9UG01	p.Leu118Pro	rs765893868	missense variant	-	NC_000002.12:g.27483921A>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu118Arg	rs765893868	missense variant	-	NC_000002.12:g.27483921A>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro121Leu	rs765202929	missense variant	-	NC_000002.12:g.27483912G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu123Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27483907C>T	NCI-TCGA
IFT172	Q9UG01	p.Ile125Leu	rs776509019	missense variant	-	NC_000002.12:g.27483901T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ile126Val	rs1370329911	missense variant	-	NC_000002.12:g.27483898T>C	gnomAD
IFT172	Q9UG01	p.Val127Ile	rs763950958	missense variant	-	NC_000002.12:g.27483895C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Phe128Leu	rs1252918577	missense variant	-	NC_000002.12:g.27483892A>G	gnomAD
IFT172	Q9UG01	p.Gly129Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27483889C>T	NCI-TCGA
IFT172	Q9UG01	p.Leu130Arg	rs1388593336	missense variant	-	NC_000002.12:g.27483885A>C	TOPMed
IFT172	Q9UG01	p.Glu132Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27483880C>T	NCI-TCGA
IFT172	Q9UG01	p.Glu132Asp	rs772179397	missense variant	-	NC_000002.12:g.27483878T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Glu132Asp	COSM4858378	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483878T>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Lys134Glu	rs745998687	missense variant	-	NC_000002.12:g.27483874T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Val135Ile	rs201476743	missense variant	-	NC_000002.12:g.27483659C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Val135Ala	rs1486720022	missense variant	-	NC_000002.12:g.27483658A>G	TOPMed
IFT172	Q9UG01	p.Arg136His	rs763923637	missense variant	-	NC_000002.12:g.27483655C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg136Cys	rs753783467	missense variant	-	NC_000002.12:g.27483656G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Leu137Ter	rs1479123351	stop gained	-	NC_000002.12:g.27483652A>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Ala138Thr	rs1461000488	missense variant	-	NC_000002.12:g.27483650C>T	TOPMed
IFT172	Q9UG01	p.Thr140Ile	rs1328218116	missense variant	-	NC_000002.12:g.27483643G>A	gnomAD
IFT172	Q9UG01	p.Lys141Thr	rs752403521	missense variant	-	NC_000002.12:g.27483640T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Lys141Glu	rs760582917	missense variant	-	NC_000002.12:g.27483641T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Thr142Pro	rs1333070754	missense variant	-	NC_000002.12:g.27483638T>G	gnomAD
IFT172	Q9UG01	p.Ser145Ter	rs1440225222	stop gained	-	NC_000002.12:g.27483628G>C	gnomAD
IFT172	Q9UG01	p.Ser146Tyr	COSM1019716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483625G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ser146Cys	COSM3798921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483625G>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ile148Val	rs759861487	missense variant	-	NC_000002.12:g.27483620T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr149Cys	rs1161989952	missense variant	-	NC_000002.12:g.27483616T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Gly150Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27483614C>G	NCI-TCGA
IFT172	Q9UG01	p.Gly150Glu	rs368343162	missense variant	-	NC_000002.12:g.27483613C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly150Ala	rs368343162	missense variant	-	NC_000002.12:g.27483613C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr154Phe	rs763070687	missense variant	-	NC_000002.12:g.27483601T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr154Cys	rs763070687	missense variant	-	NC_000002.12:g.27483601T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Val155Leu	rs149969430	missense variant	-	NC_000002.12:g.27483599C>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val155Met	rs149969430	missense variant	-	NC_000002.12:g.27483599C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val155Leu	rs149969430	missense variant	-	NC_000002.12:g.27483599C>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val156Leu	rs1401986067	missense variant	-	NC_000002.12:g.27483596C>A	TOPMed
IFT172	Q9UG01	p.Val156Ala	rs1464945043	missense variant	-	NC_000002.12:g.27483595A>G	gnomAD
IFT172	Q9UG01	p.Ser157Phe	rs1206668490	missense variant	-	NC_000002.12:g.27483592G>A	gnomAD
IFT172	Q9UG01	p.Cys162Phe	rs762255055	missense variant	-	NC_000002.12:g.27483374C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ser163Phe	rs543483878	missense variant	-	NC_000002.12:g.27483371G>A	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Gly166Glu	rs769020119	missense variant	-	NC_000002.12:g.27483362C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ile167Val	rs369822391	missense variant	-	NC_000002.12:g.27483360T>C	ESP,ExAC,TOPMed
IFT172	Q9UG01	p.Leu168Ile	rs778601747	missense variant	-	NC_000002.12:g.27483357G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu168Phe	COSM3580646	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483357G>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ser169Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27483353G>A	NCI-TCGA
IFT172	Q9UG01	p.His171Leu	rs748845217	missense variant	-	NC_000002.12:g.27483347T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His171Arg	rs748845217	missense variant	-	NC_000002.12:g.27483347T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His171Tyr	COSM3580644	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483348G>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ala172Glu	rs755611941	missense variant	-	NC_000002.12:g.27483344G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ala172Thr	rs777168931	missense variant	-	NC_000002.12:g.27483345C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala172Gly	rs755611941	missense variant	-	NC_000002.12:g.27483344G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asp173Gly	rs576276768	missense variant	-	NC_000002.12:g.27483341T>C	1000Genomes,ExAC
IFT172	Q9UG01	p.Gly174Val	rs781128477	missense variant	-	NC_000002.12:g.27483338C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr175Ile	rs1296317670	missense variant	-	NC_000002.12:g.27483335G>A	gnomAD
IFT172	Q9UG01	p.Val177Ile	rs754880269	missense variant	-	NC_000002.12:g.27483330C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Val177Phe	rs754880269	missense variant	-	NC_000002.12:g.27483330C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg178Ser	rs1276028344	missense variant	-	NC_000002.12:g.27483325C>A	TOPMed
IFT172	Q9UG01	p.Arg178Trp	rs150780299	missense variant	-	NC_000002.12:g.27483327T>A	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Tyr179His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27483324A>G	NCI-TCGA
IFT172	Q9UG01	p.Tyr179Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.27483322_27483323insCAAAAAATAAATACAAAAAT	NCI-TCGA
IFT172	Q9UG01	p.Phe181Leu	rs1483934151	missense variant	-	NC_000002.12:g.27483318A>G	gnomAD
IFT172	Q9UG01	p.Asp182Asn	rs766750140	missense variant	-	NC_000002.12:g.27483315C>T	ExAC
IFT172	Q9UG01	p.Asp183Asn	rs1276984398	missense variant	-	NC_000002.12:g.27483312C>T	gnomAD
IFT172	Q9UG01	p.Asp183Val	rs758675573	missense variant	-	NC_000002.12:g.27483311T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Glu184Gly	rs1290766680	missense variant	-	NC_000002.12:g.27483308T>C	gnomAD
IFT172	Q9UG01	p.Glu184Ter	COSM3839302	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.27483309C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Glu184Gln	rs1218744872	missense variant	-	NC_000002.12:g.27483309C>G	gnomAD
IFT172	Q9UG01	p.Gly185Ser	rs1230515921	missense variant	-	NC_000002.12:g.27483306C>T	gnomAD
IFT172	Q9UG01	p.Gly185Asp	rs375455647	missense variant	-	NC_000002.12:g.27483305C>T	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser186Cys	rs765232421	missense variant	-	NC_000002.12:g.27483302G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ser189Pro	rs761890738	missense variant	-	NC_000002.12:g.27483294A>G	ExAC
IFT172	Q9UG01	p.Leu193Val	rs1209899453	missense variant	-	NC_000002.12:g.27481254A>C	gnomAD
IFT172	Q9UG01	p.Val194Leu	rs1466681290	missense variant	-	NC_000002.12:g.27481251C>G	gnomAD
IFT172	Q9UG01	p.Val194Ala	rs767873188	missense variant	-	NC_000002.12:g.27481250A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Pro197Thr	rs267599319	missense variant	-	NC_000002.12:g.27481242G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Pro197Leu	rs368373262	missense variant	-	NC_000002.12:g.27481241G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro197Ser	rs267599319	missense variant	-	NC_000002.12:g.27481242G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Pro200Arg	rs776260844	missense variant	-	NC_000002.12:g.27481232G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr201Cys	rs768237211	missense variant	-	NC_000002.12:g.27481229T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala204Ser	rs1437164423	missense variant	-	NC_000002.12:g.27481221C>A	gnomAD
IFT172	Q9UG01	p.Ala206Thr	rs563142153	missense variant	-	NC_000002.12:g.27481215C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn208Ser	rs771817287	missense variant	-	NC_000002.12:g.27481208T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val211Met	rs757478657	missense variant	-	NC_000002.12:g.27481200C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys215Trp	rs1452877791	missense variant	-	NC_000002.12:g.27481186A>C	gnomAD
IFT172	Q9UG01	p.Asp216Val	rs1457093080	missense variant	-	NC_000002.12:g.27481184T>A	gnomAD
IFT172	Q9UG01	p.Asp216His	rs1394542868	missense variant	-	NC_000002.12:g.27481185C>G	gnomAD
IFT172	Q9UG01	p.Arg217Trp	rs773661262	missense variant	-	NC_000002.12:g.27481182G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg217Pro	rs777862424	missense variant	-	NC_000002.12:g.27481181C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg217Gln	rs777862424	missense variant	-	NC_000002.12:g.27481181C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val220Ile	rs756119182	missense variant	-	NC_000002.12:g.27481173C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Val220Leu	rs756119182	missense variant	-	NC_000002.12:g.27481173C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Val220Ala	rs1187199705	missense variant	-	NC_000002.12:g.27481172A>G	TOPMed
IFT172	Q9UG01	p.Gly223Ala	rs1483747273	missense variant	-	NC_000002.12:g.27481163C>G	gnomAD
IFT172	Q9UG01	p.Glu225Gln	rs767999703	missense variant	-	NC_000002.12:g.27481158C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gly226Cys	rs759886744	missense variant	-	NC_000002.12:g.27481155C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Gly226Asp	rs751922469	missense variant	-	NC_000002.12:g.27481154C>T	ExAC,gnomAD
IFT172	Q9UG01	p.His227Gln	COSM477277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27481150G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.His227Tyr	rs142857050	missense variant	-	NC_000002.12:g.27481152G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met228Leu	rs373455739	missense variant	-	NC_000002.12:g.27481149T>G	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Met228Val	rs373455739	missense variant	-	NC_000002.12:g.27481149T>C	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg236Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27481124C>A	NCI-TCGA
IFT172	Q9UG01	p.Arg236Cys	rs146290725	missense variant	-	NC_000002.12:g.27481125G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg236His	rs768290728	missense variant	-	NC_000002.12:g.27481124C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg236Ser	rs146290725	missense variant	-	NC_000002.12:g.27481125G>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg236Gly	rs146290725	missense variant	-	NC_000002.12:g.27481125G>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp237Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27481122C>T	NCI-TCGA
IFT172	Q9UG01	p.Gln239Arg	rs1381064305	missense variant	-	NC_000002.12:g.27481115T>C	gnomAD
IFT172	Q9UG01	p.Gln239His	rs760244057	missense variant	-	NC_000002.12:g.27481114C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg241Gln	rs1169495816	missense variant	-	NC_000002.12:g.27481109C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg241Trp	rs772012378	missense variant	-	NC_000002.12:g.27481110G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu242Gln	rs1371416642	missense variant	-	NC_000002.12:g.27481107C>G	gnomAD
IFT172	Q9UG01	p.Val247Leu	rs144379702	missense variant	-	NC_000002.12:g.27481092C>G	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Pro250Ser	rs1013134780	missense variant	-	NC_000002.12:g.27481083G>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Pro250Ala	rs1013134780	missense variant	-	NC_000002.12:g.27481083G>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Gly252AlaPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27481076C>-	NCI-TCGA
IFT172	Q9UG01	p.Gly252Asp	rs749516036	missense variant	-	NC_000002.12:g.27481076C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Val256Met	rs777914345	missense variant	-	NC_000002.12:g.27481065C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Leu257Pro	RCV000171551	missense variant	Retinitis pigmentosa 71 (RP71)	NC_000002.12:g.27481061A>G	ClinVar
IFT172	Q9UG01	p.Leu257Pro	rs786205857	missense variant	-	NC_000002.12:g.27481061A>G	-
IFT172	Q9UG01	p.Gly258Ala	rs1303576592	missense variant	-	NC_000002.12:g.27481058C>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg262Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27480149C>A	NCI-TCGA
IFT172	Q9UG01	p.Arg262Met	rs1235295289	missense variant	-	NC_000002.12:g.27481046C>A	gnomAD
IFT172	Q9UG01	p.Arg264Leu	rs976552782	missense variant	-	NC_000002.12:g.27480144C>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg264Trp	rs750783565	missense variant	-	NC_000002.12:g.27480145G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg264Gln	rs976552782	missense variant	-	NC_000002.12:g.27480144C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Asn267Ser	rs1364955385	missense variant	-	NC_000002.12:g.27480135T>C	TOPMed
IFT172	Q9UG01	p.Trp268Gly	rs931651427	missense variant	-	NC_000002.12:g.27480133A>C	TOPMed
IFT172	Q9UG01	p.Arg271Ter	rs1250676888	stop gained	-	NC_000002.12:g.27480124G>A	gnomAD
IFT172	Q9UG01	p.Arg271Gln	rs375847990	missense variant	-	NC_000002.12:g.27480123C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg271Ter	RCV000702336	nonsense	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27480124G>A	ClinVar
IFT172	Q9UG01	p.Ser273Arg	rs1465330436	missense variant	-	NC_000002.12:g.27480118T>G	gnomAD
IFT172	Q9UG01	p.Trp275Cys	rs1269755860	missense variant	-	NC_000002.12:g.27480110C>A	gnomAD
IFT172	Q9UG01	p.Glu277Asp	rs150938554	missense variant	-	NC_000002.12:g.27480104C>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu277Asp	RCV000413813	missense variant	-	NC_000002.12:g.27480104C>G	ClinVar
IFT172	Q9UG01	p.Ala278Gly	COSM1407470	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27480102G>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Pro280Leu	rs1279126964	missense variant	-	NC_000002.12:g.27480096G>A	gnomAD
IFT172	Q9UG01	p.Lys281Glu	rs1234246059	missense variant	-	NC_000002.12:g.27480094T>C	gnomAD
IFT172	Q9UG01	p.Glu282Lys	rs774405210	missense variant	-	NC_000002.12:g.27480091C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn285Ser	rs975683128	missense variant	-	NC_000002.12:g.27480081T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Leu286ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27480076_27480079ATAA>-	NCI-TCGA
IFT172	Q9UG01	p.Tyr287Cys	rs766223232	missense variant	-	NC_000002.12:g.27480075T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Thr288Ile	rs769531545	missense variant	-	NC_000002.12:g.27480072G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Thr288Ala	rs772971741	missense variant	-	NC_000002.12:g.27480073T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr290Ala	rs748403646	missense variant	-	NC_000002.12:g.27480067T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ala293Thr	rs370903625	missense variant	-	NC_000002.12:g.27480058C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg296Gln	rs368407796	missense variant	-	NC_000002.12:g.27480048C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg296Trp	RCV000083274	missense variant	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27480049G>A	ClinVar
IFT172	Q9UG01	p.Arg296Trp	rs145541911	missense variant	-	NC_000002.12:g.27480049G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser299Leu	rs1330519867	missense variant	-	NC_000002.12:g.27480039G>A	TOPMed
IFT172	Q9UG01	p.Arg300Trp	rs1213575384	missense variant	-	NC_000002.12:g.27480037G>A	gnomAD
IFT172	Q9UG01	p.Arg300Gln	rs146332658	missense variant	-	NC_000002.12:g.27480036C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys302Tyr	rs1201235224	missense variant	-	NC_000002.12:g.27480030C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Cys302Ser	rs1201235224	missense variant	-	NC_000002.12:g.27480030C>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Cys302Arg	rs1279146828	missense variant	-	NC_000002.12:g.27480031A>G	gnomAD
IFT172	Q9UG01	p.Val303Ala	rs951538849	missense variant	-	NC_000002.12:g.27480027A>G	TOPMed
IFT172	Q9UG01	p.Gly304Asp	RCV000497646	missense variant	-	NC_000002.12:g.27479603C>T	ClinVar
IFT172	Q9UG01	p.Gly304Asp	rs1553335843	missense variant	-	NC_000002.12:g.27479603C>T	-
IFT172	Q9UG01	p.Cys307Tyr	rs144763092	missense variant	-	NC_000002.12:g.27479594C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly308Cys	rs771479443	missense variant	-	NC_000002.12:g.27479592C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Gly309Ala	rs749612277	missense variant	-	NC_000002.12:g.27479588C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Val310Ala	rs1483534962	missense variant	-	NC_000002.12:g.27479585A>G	gnomAD
IFT172	Q9UG01	p.Cys315Arg	rs1437343049	missense variant	-	NC_000002.12:g.27479571A>G	gnomAD
IFT172	Q9UG01	p.Cys316Tyr	rs1291146713	missense variant	-	NC_000002.12:g.27479567C>T	gnomAD
IFT172	Q9UG01	p.Arg318Gln	rs779572697	missense variant	-	NC_000002.12:g.27479561C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg318Ter	rs751177541	stop gained	-	NC_000002.12:g.27479562G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg318Gly	rs751177541	missense variant	-	NC_000002.12:g.27479562G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Arg319Lys	rs1002834084	missense variant	-	NC_000002.12:g.27479558C>T	TOPMed
IFT172	Q9UG01	p.Ser320Arg	rs765150051	missense variant	-	NC_000002.12:g.27479554A>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ser320Gly	rs750376689	missense variant	-	NC_000002.12:g.27479556T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ile321Met	rs761704635	missense variant	-	NC_000002.12:g.27479551A>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys323Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27479545C>A	NCI-TCGA
IFT172	Q9UG01	p.Asn324Lys	rs370874046	missense variant	-	NC_000002.12:g.27479542G>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn324Lys	rs370874046	missense variant	-	NC_000002.12:g.27479542G>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Phe326Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27479537A>G	NCI-TCGA
IFT172	Q9UG01	p.Thr329Met	rs568736482	missense variant	-	NC_000002.12:g.27479528G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr330His	rs1159686950	missense variant	-	NC_000002.12:g.27479526A>G	gnomAD
IFT172	Q9UG01	p.Tyr330Phe	COSM3991253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27479525T>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Gly332Glu	rs1425429499	missense variant	-	NC_000002.12:g.27479519C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Gly332Arg	rs1185154683	missense variant	-	NC_000002.12:g.27479520C>T	gnomAD
IFT172	Q9UG01	p.Ile337Val	rs774559020	missense variant	-	NC_000002.12:g.27478153T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Lys339Glu	COSM1326233	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27478147T>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ser343Pro	rs1252865853	missense variant	-	NC_000002.12:g.27478135A>G	gnomAD
IFT172	Q9UG01	p.Arg346Ter	RCV000428220	nonsense	-	NC_000002.12:g.27478126G>A	ClinVar
IFT172	Q9UG01	p.Arg346Gln	rs763372262	missense variant	-	NC_000002.12:g.27478125C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Arg346Ter	rs201862538	stop gained	-	NC_000002.12:g.27478126G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val347Leu	rs773726175	missense variant	-	NC_000002.12:g.27478123C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Val348Met	rs770074024	missense variant	-	NC_000002.12:g.27478120C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val348Leu	rs770074024	missense variant	-	NC_000002.12:g.27478120C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu349His	rs775160257	missense variant	-	NC_000002.12:g.27478116A>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys350Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27478113T>A	NCI-TCGA
IFT172	Q9UG01	p.His352Gln	rs145847794	missense variant	-	NC_000002.12:g.27478106G>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His352Arg	rs778403051	missense variant	-	NC_000002.12:g.27478107T>C	ExAC,gnomAD
IFT172	Q9UG01	p.His352Tyr	rs776551883	missense variant	-	NC_000002.12:g.27478108G>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr353Ter	rs1337535320	stop gained	-	NC_000002.12:g.27478104dup	gnomAD
IFT172	Q9UG01	p.Tyr353Cys	rs749207320	missense variant	-	NC_000002.12:g.27478104T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly354Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27478101C>T	NCI-TCGA
IFT172	Q9UG01	p.Gly354Ala	rs1230851942	missense variant	-	NC_000002.12:g.27478101C>G	TOPMed
IFT172	Q9UG01	p.Val357Met	rs950574407	missense variant	-	NC_000002.12:g.27478093C>T	TOPMed
IFT172	Q9UG01	p.Lys361Gln	rs1335378958	missense variant	-	NC_000002.12:g.27478081T>G	TOPMed
IFT172	Q9UG01	p.Ile362Met	rs1294413135	missense variant	-	NC_000002.12:g.27478076G>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Ile362Val	COSM3580638	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27478078T>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Gly364Arg	COSM6158105	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27478072C>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Glu366Lys	rs755902957	missense variant	-	NC_000002.12:g.27478066C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Arg367Ser	rs755816980	missense variant	-	NC_000002.12:g.27478063G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg367Cys	rs755816980	missense variant	-	NC_000002.12:g.27478063G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg367His	rs755263642	missense variant	-	NC_000002.12:g.27478062C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg367Leu	rs755263642	missense variant	-	NC_000002.12:g.27478062C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr368His	rs751763732	missense variant	-	NC_000002.12:g.27478060A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Val370Met	rs1186256423	missense variant	-	NC_000002.12:g.27478054C>T	gnomAD
IFT172	Q9UG01	p.Val370Leu	rs1186256423	missense variant	-	NC_000002.12:g.27478054C>G	gnomAD
IFT172	Q9UG01	p.Ser374Ter	rs1486217518	stop gained	-	NC_000002.12:g.27478041G>C	gnomAD
IFT172	Q9UG01	p.Gly380Ala	rs765740203	missense variant	-	NC_000002.12:g.27478023C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Asn385His	rs1229493761	missense variant	-	NC_000002.12:g.27478009T>G	gnomAD
IFT172	Q9UG01	p.Arg386Gln	rs137868356	missense variant	-	NC_000002.12:g.27478005C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu387Arg	rs745554539	missense variant	-	NC_000002.12:g.27478002A>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile390Val	rs140989917	missense variant	-	NC_000002.12:g.27477612T>C	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Ala391Val	rs781225823	missense variant	-	NC_000002.12:g.27477608G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Trp392Cys	rs754968647	missense variant	-	NC_000002.12:g.27477604C>A	TOPMed
IFT172	Q9UG01	p.Trp392Cys	rs754968647	missense variant	-	NC_000002.12:g.27477604C>G	TOPMed
IFT172	Q9UG01	p.Trp392Ter	rs548321926	stop gained	-	NC_000002.12:g.27477605C>T	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Gly397Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27477590C>T	NCI-TCGA
IFT172	Q9UG01	p.Gly397Ser	rs920629119	missense variant	-	NC_000002.12:g.27477591C>T	gnomAD
IFT172	Q9UG01	p.Asn398Ser	rs1208328991	missense variant	-	NC_000002.12:g.27477587T>C	gnomAD
IFT172	Q9UG01	p.Lys400Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27477581T>G	NCI-TCGA
IFT172	Q9UG01	p.Lys400Arg	COSM4093599	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27477581T>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Phe402Leu	COSM4691858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27477574G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Glu404Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27477568T>A	NCI-TCGA
IFT172	Q9UG01	p.Asn405Lys	rs143661402	missense variant	-	NC_000002.12:g.27477565A>C	ESP,ExAC,TOPMed
IFT172	Q9UG01	p.Asn407Asp	COSM3426356	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27477561T>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Asn407Lys	rs1470090185	missense variant	-	NC_000002.12:g.27477559A>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Cys409Arg	rs1218425125	missense variant	-	NC_000002.12:g.27477317A>G	TOPMed
IFT172	Q9UG01	p.Ile411Asn	RCV000083277	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27477310A>T	ClinVar
IFT172	Q9UG01	p.Ile411Val	rs776747406	missense variant	-	NC_000002.12:g.27477311T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ile411Phe	rs776747406	missense variant	-	NC_000002.12:g.27477311T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ile411Asn	rs587777085	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27477310A>T	UniProt,dbSNP
IFT172	Q9UG01	p.Ile411Asn	VAR_070957	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27477310A>T	UniProt
IFT172	Q9UG01	p.Ile411Asn	rs587777085	missense variant	-	NC_000002.12:g.27477310A>T	-
IFT172	Q9UG01	p.Phe412Leu	rs1455214961	missense variant	-	NC_000002.12:g.27477308A>G	gnomAD
IFT172	Q9UG01	p.Asn413Ser	rs962054597	missense variant	-	NC_000002.12:g.27477304T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Gly415Glu	rs1014536412	missense variant	-	NC_000002.12:g.27477298C>T	TOPMed
IFT172	Q9UG01	p.Gly415Arg	rs746834072	missense variant	-	NC_000002.12:g.27477299C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu416Gly	rs779907319	missense variant	-	NC_000002.12:g.27477295T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr422Asn	rs771727703	missense variant	-	NC_000002.12:g.27477278A>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn425Asp	rs145145347	missense variant	-	NC_000002.12:g.27477269T>C	ESP
IFT172	Q9UG01	p.Leu428Val	rs1160625178	missense variant	-	NC_000002.12:g.27477260G>C	TOPMed
IFT172	Q9UG01	p.Gly429Cys	COSM4860125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27477257C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Val431Leu	rs149985362	missense variant	-	NC_000002.12:g.27477251C>A	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Val431Ile	rs149985362	missense variant	-	NC_000002.12:g.27477251C>T	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg432Cys	rs757812352	missense variant	-	NC_000002.12:g.27477248G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg432His	rs1327376049	missense variant	-	NC_000002.12:g.27477247C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Met436Val	rs753911273	missense variant	-	NC_000002.12:g.27477236T>C	ExAC
IFT172	Q9UG01	p.Pro438Ala	rs1359453358	missense variant	-	NC_000002.12:g.27477230G>C	gnomAD
IFT172	Q9UG01	p.Pro438Leu	rs367930028	missense variant	-	NC_000002.12:g.27477229G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His439ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27477227G>-	NCI-TCGA
IFT172	Q9UG01	p.His439Asp	rs756627876	missense variant	-	NC_000002.12:g.27477227G>C	ExAC,gnomAD
IFT172	Q9UG01	p.His439Tyr	rs756627876	missense variant	-	NC_000002.12:g.27477227G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ile441Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27477221T>C	NCI-TCGA
IFT172	Q9UG01	p.Arg444Pro	rs751965696	missense variant	-	NC_000002.12:g.27476721C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg444Cys	rs1038040281	missense variant	-	NC_000002.12:g.27476722G>A	TOPMed
IFT172	Q9UG01	p.Arg444Gly	rs1038040281	missense variant	-	NC_000002.12:g.27476722G>C	TOPMed
IFT172	Q9UG01	p.Arg444His	rs751965696	missense variant	-	NC_000002.12:g.27476721C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile445Leu	rs956566812	missense variant	-	NC_000002.12:g.27476719T>G	TOPMed
IFT172	Q9UG01	p.Asn446His	rs905062419	missense variant	-	NC_000002.12:g.27476716T>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Glu447Gly	rs1286965773	missense variant	-	NC_000002.12:g.27476712T>C	TOPMed
IFT172	Q9UG01	p.Arg448Thr	rs1275650132	missense variant	-	NC_000002.12:g.27476709C>G	gnomAD
IFT172	Q9UG01	p.Gln450Leu	rs1356156155	missense variant	-	NC_000002.12:g.27476703T>A	TOPMed
IFT172	Q9UG01	p.Arg451Gln	rs753504432	missense variant	-	NC_000002.12:g.27476700C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg451Ter	rs1213400658	stop gained	-	NC_000002.12:g.27476701G>A	gnomAD
IFT172	Q9UG01	p.Arg451Pro	rs753504432	missense variant	-	NC_000002.12:g.27476700C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly452Arg	rs866980509	missense variant	-	NC_000002.12:g.27476698C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Gly452Glu	rs763724145	missense variant	-	NC_000002.12:g.27476697C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Thr453Arg	rs760084772	missense variant	-	NC_000002.12:g.27476694G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asn456Lys	rs767353049	missense variant	-	NC_000002.12:g.27476684A>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asn456Ile	rs528303561	missense variant	-	NC_000002.12:g.27476685T>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu459Trp	rs1326760228	missense variant	-	NC_000002.12:g.27476676A>C	gnomAD
IFT172	Q9UG01	p.Leu459Met	rs371521736	missense variant	-	NC_000002.12:g.27476677A>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr461Ter	rs201572769	stop gained	-	NC_000002.12:g.27476669A>T	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Tyr461His	rs144558865	missense variant	-	NC_000002.12:g.27476671A>G	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Leu462Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27476667A>G	NCI-TCGA
IFT172	Q9UG01	p.Ile463Thr	rs1236901349	missense variant	-	NC_000002.12:g.27476664A>G	TOPMed
IFT172	Q9UG01	p.Asp464_Ile465del	VAR_070958	inframe_deletion	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]	-	UniProt
IFT172	Q9UG01	p.Ile465Asn	rs769963997	missense variant	-	NC_000002.12:g.27476658A>T	ExAC,gnomAD
IFT172	Q9UG01	p.Lys466Glu	rs1411834388	missense variant	-	NC_000002.12:g.27476656T>C	gnomAD
IFT172	Q9UG01	p.Lys466Arg	COSM6158109	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27476655T>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Lys466Asn	COSM1019711	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27476654C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Lys466Asn	rs748144351	missense variant	-	NC_000002.12:g.27476654C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ala469Asp	COSM3839294	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27476646G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ile470Met	rs1203009355	missense variant	-	NC_000002.12:g.27476642T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Ile470Val	rs563278243	missense variant	-	NC_000002.12:g.27476644T>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Asp472Gly	rs780688146	missense variant	-	NC_000002.12:g.27472359T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asp472Asn	rs747544155	missense variant	-	NC_000002.12:g.27472360C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Leu473Val	rs772607856	missense variant	-	NC_000002.12:g.27472357G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile474Val	rs746233698	missense variant	-	NC_000002.12:g.27472354T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Gly476Ser	RCV000480937	missense variant	-	NC_000002.12:g.27472348C>T	ClinVar
IFT172	Q9UG01	p.Gly476Ser	RCV000653125	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27472348C>T	ClinVar
IFT172	Q9UG01	p.Gly476Ser	rs147303046	missense variant	-	NC_000002.12:g.27472348C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn478Asp	rs374979653	missense variant	-	NC_000002.12:g.27472342T>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn478Ile	rs143491198	missense variant	-	NC_000002.12:g.27472341T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly480Val	rs1432674990	missense variant	-	NC_000002.12:g.27472335C>A	gnomAD
IFT172	Q9UG01	p.Thr481Ile	rs1347140160	missense variant	-	NC_000002.12:g.27472332G>A	gnomAD
IFT172	Q9UG01	p.Val482Ile	rs771104054	missense variant	-	NC_000002.12:g.27472330C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val482Gly	rs61740250	missense variant	-	NC_000002.12:g.27472329A>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser483Asn	rs1176061294	missense variant	-	NC_000002.12:g.27472326C>T	gnomAD
IFT172	Q9UG01	p.Glu485Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.27472321C>A	NCI-TCGA
IFT172	Q9UG01	p.Glu485Asp	rs921473865	missense variant	-	NC_000002.12:g.27472319C>A	TOPMed
IFT172	Q9UG01	p.Arg487His	rs368967337	missense variant	-	NC_000002.12:g.27472314C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg487Gly	rs143520040	missense variant	-	NC_000002.12:g.27472315G>C	1000Genomes,ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Arg487Leu	rs368967337	missense variant	-	NC_000002.12:g.27472314C>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg487Cys	rs143520040	missense variant	-	NC_000002.12:g.27472315G>A	1000Genomes,ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Val488Leu	rs975612115	missense variant	-	NC_000002.12:g.27472312C>A	TOPMed
IFT172	Q9UG01	p.Glu492Lys	rs750169290	missense variant	-	NC_000002.12:g.27472300C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu492Ter	rs750169290	stop gained	-	NC_000002.12:g.27472300C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn494Ser	rs1487066977	missense variant	-	NC_000002.12:g.27472293T>C	gnomAD
IFT172	Q9UG01	p.Thr496Asn	rs776869287	missense variant	-	NC_000002.12:g.27472287G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Thr496Ile	rs776869287	missense variant	-	NC_000002.12:g.27472287G>A	ExAC,gnomAD
IFT172	Q9UG01	p.His498Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27472281T>A	NCI-TCGA
IFT172	Q9UG01	p.Leu500Phe	rs768671584	missense variant	-	NC_000002.12:g.27472276G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Leu501Val	rs760810237	missense variant	-	NC_000002.12:g.27472273G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Arg503Gly	rs772696044	missense variant	-	NC_000002.12:g.27472267T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Arg503Trp	rs772696044	missense variant	-	NC_000002.12:g.27472267T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg505Trp	rs779152335	missense variant	-	NC_000002.12:g.27472261G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg505Gln	rs747777887	missense variant	-	NC_000002.12:g.27472260C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg505Leu	rs747777887	missense variant	-	NC_000002.12:g.27472260C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu507Phe	rs371183917	missense variant	-	NC_000002.12:g.27472255G>A	ESP,TOPMed
IFT172	Q9UG01	p.Arg508His	rs144868723	missense variant	-	NC_000002.12:g.27472251C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg508Cys	rs371011000	missense variant	-	NC_000002.12:g.27472252G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Leu509Phe	rs1397236212	missense variant	-	NC_000002.12:g.27471093C>A	gnomAD
IFT172	Q9UG01	p.His510Asp	rs773577174	missense variant	-	NC_000002.12:g.27471092G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asp513Asn	rs959481954	missense variant	-	NC_000002.12:g.27471083C>T	TOPMed
IFT172	Q9UG01	p.Ser516Arg	COSM1019710	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27471074T>G	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ser518Cys	rs375640327	missense variant	-	NC_000002.12:g.27471067G>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr520Lys	rs746692750	missense variant	-	NC_000002.12:g.27471061G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Met521Val	rs775072437	missense variant	-	NC_000002.12:g.27471059T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ile522Phe	rs1437298206	missense variant	-	NC_000002.12:g.27471056T>A	gnomAD
IFT172	Q9UG01	p.Leu523Phe	rs1237426653	missense variant	-	NC_000002.12:g.27471053G>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Asn524Ser	rs1194191840	missense variant	-	NC_000002.12:g.27471049T>C	gnomAD
IFT172	Q9UG01	p.Ser527Pro	rs771614435	missense variant	-	NC_000002.12:g.27471041A>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met529Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27471033C>T	NCI-TCGA
IFT172	Q9UG01	p.Met529Val	rs745382278	missense variant	-	NC_000002.12:g.27471035T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met529Ile	rs1355860343	missense variant	-	NC_000002.12:g.27471033C>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Gln530His	rs770918577	missense variant	-	NC_000002.12:g.27471030C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser535Asn	rs1171766936	missense variant	-	NC_000002.12:g.27471016C>T	TOPMed
IFT172	Q9UG01	p.Asp536Asn	rs1356591582	missense variant	-	NC_000002.12:g.27471014C>T	TOPMed
IFT172	Q9UG01	p.Val537Met	rs868020223	missense variant	-	NC_000002.12:g.27471011C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Val539Ala	rs937413382	missense variant	-	NC_000002.12:g.27471004A>G	TOPMed
IFT172	Q9UG01	p.Arg543Ter	rs777743328	stop gained	-	NC_000002.12:g.27470993G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg543Gln	rs755926439	missense variant	-	NC_000002.12:g.27470992C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val548Ile	rs1338644209	missense variant	-	NC_000002.12:g.27470978C>T	gnomAD
IFT172	Q9UG01	p.Trp549Ser	rs1297668400	missense variant	-	NC_000002.12:g.27470974C>G	TOPMed
IFT172	Q9UG01	p.Ile552Thr	rs369863525	missense variant	-	NC_000002.12:g.27470965A>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro555Ala	rs766310940	missense variant	-	NC_000002.12:g.27470957G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val558Ter	RCV000083275	frameshift	Short-rib thoracic dysplasia 10 with polydactyly	NC_000002.12:g.27470949_27470950TC[4]	ClinVar
IFT172	Q9UG01	p.Met560Val	rs763516858	missense variant	-	NC_000002.12:g.27470942T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Phe561Leu	rs750884605	missense variant	-	NC_000002.12:g.27470939A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Thr562Ser	RCV000616730	missense variant	-	NC_000002.12:g.27470935G>C	ClinVar
IFT172	Q9UG01	p.Thr562Ser	rs61743977	missense variant	-	NC_000002.12:g.27470935G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr562Ser	RCV000536785	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27470935G>C	ClinVar
IFT172	Q9UG01	p.Arg564Thr	rs148710037	missense variant	-	NC_000002.12:g.27470929C>G	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg564Lys	rs148710037	missense variant	-	NC_000002.12:g.27470929C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly565Asp	rs758357901	missense variant	-	NC_000002.12:g.27465881C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Asp566Glu	rs765731241	missense variant	-	NC_000002.12:g.27465877A>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp566Val	rs750974416	missense variant	-	NC_000002.12:g.27465878T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Val567Asp	rs762225989	missense variant	-	NC_000002.12:g.27465875A>T	ExAC,gnomAD
IFT172	Q9UG01	p.Val567Ile	rs1280542878	missense variant	-	NC_000002.12:g.27465876C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Ile568Thr	rs1318361155	missense variant	-	NC_000002.12:g.27465872A>G	gnomAD
IFT172	Q9UG01	p.Gly569Ser	rs1339393349	missense variant	-	NC_000002.12:g.27465870C>T	gnomAD
IFT172	Q9UG01	p.Glu571Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27465862C>G	NCI-TCGA
IFT172	Q9UG01	p.Glu571Asp	COSM1019709	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27465862C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Arg572Trp	rs377512468	missense variant	-	NC_000002.12:g.27465861G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg572Gln	rs764302265	missense variant	-	NC_000002.12:g.27465860C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly573Asp	rs140967266	missense variant	-	NC_000002.12:g.27465857C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly574Arg	RCV000523406	missense variant	-	NC_000002.12:g.27465855C>T	ClinVar
IFT172	Q9UG01	p.Gly574Glu	rs773348843	missense variant	-	NC_000002.12:g.27465854C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Gly574Arg	rs762521619	missense variant	-	NC_000002.12:g.27465855C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly574Arg	rs762521619	missense variant	-	NC_000002.12:g.27465855C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu578Lys	rs1423106803	missense variant	-	NC_000002.12:g.27465843C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Met580Ile	rs1473813339	missense variant	-	NC_000002.12:g.27465835C>T	gnomAD
IFT172	Q9UG01	p.Met580Lys	rs1182666600	missense variant	-	NC_000002.12:g.27465836A>T	gnomAD
IFT172	Q9UG01	p.Gly584Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27465825C>G	NCI-TCGA
IFT172	Q9UG01	p.Ala589Asp	rs748040733	missense variant	-	NC_000002.12:g.27465809G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr591Arg	rs1260583521	missense variant	-	NC_000002.12:g.27465803G>C	gnomAD
IFT172	Q9UG01	p.Asp593His	rs1197078794	missense variant	-	NC_000002.12:g.27465798C>G	gnomAD
IFT172	Q9UG01	p.Gly595Cys	rs1317689933	missense variant	-	NC_000002.12:g.27465792C>A	gnomAD
IFT172	Q9UG01	p.Leu596Ile	rs1273422852	missense variant	-	NC_000002.12:g.27465789G>T	gnomAD
IFT172	Q9UG01	p.Ile597Met	rs747273253	missense variant	-	NC_000002.12:g.27465784G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile597Val	COSM2940141	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27465786T>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Glu598Lys	rs1376320850	missense variant	-	NC_000002.12:g.27465783C>T	gnomAD
IFT172	Q9UG01	p.Phe599Leu	rs753790065	missense variant	-	NC_000002.12:g.27465778A>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly600Arg	rs1485292515	missense variant	-	NC_000002.12:g.27465777C>T	TOPMed
IFT172	Q9UG01	p.Thr601Pro	COSM4913464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27465774T>G	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ala602Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27465771C>A	NCI-TCGA
IFT172	Q9UG01	p.Ile603Thr	rs758542768	missense variant	-	NC_000002.12:g.27465767A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ile603Val	rs1442344603	missense variant	-	NC_000002.12:g.27465768T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Asp604Gly	rs1329239436	missense variant	-	NC_000002.12:g.27465764T>C	gnomAD
IFT172	Q9UG01	p.Asp605Glu	rs1395027766	missense variant	-	NC_000002.12:g.27465760A>T	gnomAD
IFT172	Q9UG01	p.Asp605Tyr	rs1464844246	missense variant	-	NC_000002.12:g.27465762C>A	gnomAD
IFT172	Q9UG01	p.Gly606Ser	rs745938799	missense variant	-	NC_000002.12:g.27465759C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn607Ser	rs757770112	missense variant	-	NC_000002.12:g.27465755T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asn607His	rs1162697506	missense variant	-	NC_000002.12:g.27465756T>G	gnomAD
IFT172	Q9UG01	p.Tyr608Phe	rs754306688	missense variant	-	NC_000002.12:g.27465752T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ile609Val	rs1177391799	missense variant	-	NC_000002.12:g.27465750T>C	gnomAD
IFT172	Q9UG01	p.Arg610Gln	rs144890293	missense variant	-	NC_000002.12:g.27465746C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg610Trp	rs376749789	missense variant	-	NC_000002.12:g.27465747G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala611Glu	rs1274474647	missense variant	-	NC_000002.12:g.27465516G>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Ala611Thr	rs1366731306	missense variant	-	NC_000002.12:g.27465517C>T	gnomAD
IFT172	Q9UG01	p.Ala613Gly	rs750055951	missense variant	-	NC_000002.12:g.27465510G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Thr617Pro	rs1403737174	missense variant	-	NC_000002.12:g.27465499T>G	TOPMed
IFT172	Q9UG01	p.Leu618Met	rs761380977	missense variant	-	NC_000002.12:g.27465496G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Met620Ile	rs1274946261	missense variant	-	NC_000002.12:g.27465488C>A	TOPMed
IFT172	Q9UG01	p.Thr621Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27465486G>A	NCI-TCGA
IFT172	Q9UG01	p.Glu623Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27465481C>T	NCI-TCGA
IFT172	Q9UG01	p.Glu625Lys	rs753850356	missense variant	-	NC_000002.12:g.27465475C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ala626Val	rs763931671	missense variant	-	NC_000002.12:g.27465471G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Met627Ile	rs375875806	missense variant	-	NC_000002.12:g.27465467C>T	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Met627Val	rs1178869931	missense variant	-	NC_000002.12:g.27465469T>C	gnomAD
IFT172	Q9UG01	p.Met627Thr	rs147288623	missense variant	-	NC_000002.12:g.27465468A>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Trp628GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27465466_27465467insCATTG	NCI-TCGA
IFT172	Q9UG01	p.Lys629Glu	rs771817223	missense variant	-	NC_000002.12:g.27465463T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Lys633Gln	rs1215200186	missense variant	-	NC_000002.12:g.27465451T>G	gnomAD
IFT172	Q9UG01	p.Ala635Ser	rs771040188	missense variant	-	NC_000002.12:g.27465445C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Glu637Asp	COSM6158111	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27465437C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ala638Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27465435G>A	NCI-TCGA
IFT172	Q9UG01	p.Ala638Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27465436C>A	NCI-TCGA
IFT172	Q9UG01	p.Ile643Val	rs749325695	missense variant	-	NC_000002.12:g.27465421T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ile643Thr	rs1208007190	missense variant	-	NC_000002.12:g.27465420A>G	gnomAD
IFT172	Q9UG01	p.Ala644Glu	rs371919234	missense variant	-	NC_000002.12:g.27465417G>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala644Val	rs371919234	missense variant	-	NC_000002.12:g.27465417G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Phe648IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27463177_27463178insT	NCI-TCGA
IFT172	Q9UG01	p.Gln653Ter	rs1357665651	stop gained	-	NC_000002.12:g.27463162G>A	TOPMed
IFT172	Q9UG01	p.Ala655Thr	rs748624846	missense variant	-	NC_000002.12:g.27463156C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ala655Val	rs370407165	missense variant	-	NC_000002.12:g.27463155G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys656Asn	rs769179241	missense variant	-	NC_000002.12:g.27463151T>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala657Pro	rs190366845	missense variant	-	NC_000002.12:g.27463150C>G	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Arg658Gln	rs376890875	missense variant	-	NC_000002.12:g.27463146C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Phe659Cys	rs1279330875	missense variant	-	NC_000002.12:g.27463143A>C	TOPMed
IFT172	Q9UG01	p.His661Gln	rs150739354	missense variant	-	NC_000002.12:g.27463136A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu662Val	rs1485160871	missense variant	-	NC_000002.12:g.27463134T>A	TOPMed
IFT172	Q9UG01	p.Thr663Ile	rs1180508789	missense variant	-	NC_000002.12:g.27463131G>A	gnomAD
IFT172	Q9UG01	p.Asn664Asp	rs1456264303	missense variant	-	NC_000002.12:g.27463129T>C	gnomAD
IFT172	Q9UG01	p.Asn664Ser	rs199631887	missense variant	-	NC_000002.12:g.27463128T>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu665Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27463125T>C	NCI-TCGA
IFT172	Q9UG01	p.Glu665Lys	rs1195410569	missense variant	-	NC_000002.12:g.27463126C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Glu665Val	rs1357266863	missense variant	-	NC_000002.12:g.27463125T>A	gnomAD
IFT172	Q9UG01	p.Glu665Met	RCV000722206	missense variant	-	NC_000002.12:g.27463125_27463126delinsAT	ClinVar
IFT172	Q9UG01	p.Ile666Val	rs1267478654	missense variant	-	NC_000002.12:g.27463123T>C	gnomAD
IFT172	Q9UG01	p.Ile666Thr	rs777173046	missense variant	-	NC_000002.12:g.27463122A>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala667Thr	rs755632444	missense variant	-	NC_000002.12:g.27463120C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val670Leu	rs1243013972	missense variant	-	NC_000002.12:g.27463111C>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Val670Ile	rs1243013972	missense variant	-	NC_000002.12:g.27463111C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Ser671Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27463107G>T	NCI-TCGA
IFT172	Q9UG01	p.Arg672Gln	rs138511988	missense variant	-	NC_000002.12:g.27463104C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg672Trp	rs201921339	missense variant	-	NC_000002.12:g.27463105G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu673Gln	rs751371317	missense variant	-	NC_000002.12:g.27463102C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly675Asp	rs776862463	missense variant	-	NC_000002.12:g.27462792C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Gly675Cys	rs1487353722	missense variant	-	NC_000002.12:g.27462793C>A	gnomAD
IFT172	Q9UG01	p.Gly676Arg	rs761290683	missense variant	-	NC_000002.12:g.27462790C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Glu677Lys	rs1223309009	missense variant	-	NC_000002.12:g.27462787C>T	gnomAD
IFT172	Q9UG01	p.Gly678Val	rs374276538	missense variant	-	NC_000002.12:g.27462783C>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr679Ala	rs746240262	missense variant	-	NC_000002.12:g.27462781T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr679Ile	rs369169776	missense variant	-	NC_000002.12:g.27462780G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp680Tyr	rs376869679	missense variant	-	NC_000002.12:g.27462778C>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr682Asp	rs747734541	missense variant	-	NC_000002.12:g.27462772A>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr682His	rs747734541	missense variant	-	NC_000002.12:g.27462772A>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr682Ser	rs1022355035	missense variant	-	NC_000002.12:g.27462771T>G	TOPMed
IFT172	Q9UG01	p.Gln683Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27462769G>C	NCI-TCGA
IFT172	Q9UG01	p.Gln683His	rs780709991	missense variant	-	NC_000002.12:g.27462767C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val684Ile	rs1400020833	missense variant	-	NC_000002.12:g.27462766C>T	gnomAD
IFT172	Q9UG01	p.Arg685Leu	rs561676433	missense variant	-	NC_000002.12:g.27462762C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg685Ter	rs754435174	stop gained	-	NC_000002.12:g.27462763G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg685Gln	rs561676433	missense variant	-	NC_000002.12:g.27462762C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg687Leu	rs145601549	missense variant	-	NC_000002.12:g.27462756C>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg687His	rs145601549	missense variant	-	NC_000002.12:g.27462756C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg687Cys	rs145946722	missense variant	-	NC_000002.12:g.27462757G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu688Val	rs1476877230	missense variant	-	NC_000002.12:g.27462754G>C	gnomAD
IFT172	Q9UG01	p.Met690Val	rs61740784	missense variant	-	NC_000002.12:g.27462748T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Lys696Glu	rs1052440631	missense variant	-	NC_000002.12:g.27462730T>C	TOPMed
IFT172	Q9UG01	p.Glu699Lys	rs1319038813	missense variant	-	NC_000002.12:g.27462721C>T	gnomAD
IFT172	Q9UG01	p.Phe702Val	rs1266071723	missense variant	-	NC_000002.12:g.27462712A>C	TOPMed
IFT172	Q9UG01	p.Gln705His	rs1216475837	missense variant	-	NC_000002.12:g.27462701C>G	gnomAD
IFT172	Q9UG01	p.Val708Met	rs140506322	missense variant	-	NC_000002.12:g.27461830C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu710Ala	rs1404950371	missense variant	-	NC_000002.12:g.27461823T>G	TOPMed
IFT172	Q9UG01	p.Ala711Thr	rs144620711	missense variant	-	NC_000002.12:g.27461821C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met712Ile	rs766775165	missense variant	-	NC_000002.12:g.27461816C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Met712Thr	rs751959802	missense variant	-	NC_000002.12:g.27461817A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gly713Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27461815C>T	NCI-TCGA
IFT172	Q9UG01	p.Gly713Val	rs763269392	missense variant	-	NC_000002.12:g.27461814C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly713Asp	rs763269392	missense variant	-	NC_000002.12:g.27461814C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met714Leu	rs776328902	missense variant	-	NC_000002.12:g.27461812T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Met714Ile	rs768283981	missense variant	-	NC_000002.12:g.27461810C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr715Phe	rs1300745406	missense variant	-	NC_000002.12:g.27461808T>A	TOPMed
IFT172	Q9UG01	p.Tyr715His	rs760187043	missense variant	-	NC_000002.12:g.27461809A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gln716His	rs113996042	missense variant	-	NC_000002.12:g.27461804C>A	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Gln716Arg	rs1369834210	missense variant	-	NC_000002.12:g.27461805T>C	TOPMed
IFT172	Q9UG01	p.Glu717Ter	rs886986273	stop gained	-	NC_000002.12:g.27461803C>A	gnomAD
IFT172	Q9UG01	p.His719Tyr	rs144645349	missense variant	-	NC_000002.12:g.27461797G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg720Ter	RCV000083278	frameshift	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27461795del	ClinVar
IFT172	Q9UG01	p.Arg720His	rs202089120	missense variant	-	NC_000002.12:g.27461793C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg720Cys	rs147744868	missense variant	-	NC_000002.12:g.27461794G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Trp721Ser	rs1273638828	missense variant	-	NC_000002.12:g.27461790C>G	TOPMed
IFT172	Q9UG01	p.Trp721Ter	rs1302574160	stop gained	-	NC_000002.12:g.27461789C>T	gnomAD
IFT172	Q9UG01	p.Glu723Val	rs1458885390	missense variant	-	NC_000002.12:g.27461784T>A	TOPMed
IFT172	Q9UG01	p.Ile725Leu	rs1362931814	missense variant	-	NC_000002.12:g.27461779T>G	gnomAD
IFT172	Q9UG01	p.Ala726Thr	rs188779949	missense variant	-	NC_000002.12:g.27461776C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val727Ala	rs1426370080	missense variant	-	NC_000002.12:g.27461772A>G	gnomAD
IFT172	Q9UG01	p.Ala728Val	rs748281342	missense variant	-	NC_000002.12:g.27461769G>A	ExAC,gnomAD
IFT172	Q9UG01	p.His733Tyr	rs774487712	missense variant	-	NC_000002.12:g.27461514G>A	ExAC,gnomAD
IFT172	Q9UG01	p.His733Asn	rs774487712	missense variant	-	NC_000002.12:g.27461514G>T	ExAC,gnomAD
IFT172	Q9UG01	p.His733Pro	rs547973047	missense variant	-	NC_000002.12:g.27461513T>G	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Ala735Asp	RCV000549433	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27461507G>T	ClinVar
IFT172	Q9UG01	p.Ala735Asp	rs773174861	missense variant	-	NC_000002.12:g.27461507G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys738Asn	rs769429891	missense variant	-	NC_000002.12:g.27461497C>A	ExAC
IFT172	Q9UG01	p.Arg740His	rs781236948	missense variant	-	NC_000002.12:g.27461492C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Arg740Cys	rs187728607	missense variant	-	NC_000002.12:g.27461493G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg741Cys	rs984586780	missense variant	-	NC_000002.12:g.27461490G>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg741His	rs1011923461	missense variant	-	NC_000002.12:g.27461489C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Ser742Arg	rs755149584	missense variant	-	NC_000002.12:g.27461487T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ser742Asn	rs747042638	missense variant	-	NC_000002.12:g.27461486C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr744His	rs200253619	missense variant	-	NC_000002.12:g.27461481A>G	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Tyr744Cys	rs201991482	missense variant	-	NC_000002.12:g.27461480T>C	ExAC,TOPMed
IFT172	Q9UG01	p.Gln745His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27461476C>A	NCI-TCGA
IFT172	Q9UG01	p.Gln745Pro	rs765641043	missense variant	-	NC_000002.12:g.27461477T>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln745Leu	rs765641043	missense variant	-	NC_000002.12:g.27461477T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Trp746Gly	rs757532132	missense variant	-	NC_000002.12:g.27461475A>C	ExAC,gnomAD
IFT172	Q9UG01	p.Trp746Ter	rs1381740412	stop gained	-	NC_000002.12:g.27461474C>T	gnomAD
IFT172	Q9UG01	p.Trp746Ter	rs1393583850	stop gained	-	NC_000002.12:g.27461473C>T	gnomAD
IFT172	Q9UG01	p.Trp746Arg	rs757532132	missense variant	-	NC_000002.12:g.27461475A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Met748Ile	rs201346238	missense variant	-	NC_000002.12:g.27461467C>T	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Asp749Asn	rs767064547	missense variant	-	NC_000002.12:g.27461466C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Gln751Arg	rs759174400	missense variant	-	NC_000002.12:g.27461459T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Gln752Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27461457G>T	NCI-TCGA
IFT172	Q9UG01	p.Glu754Gly	rs1466900344	missense variant	-	NC_000002.12:g.27461450T>C	gnomAD
IFT172	Q9UG01	p.Arg755Pro	rs78631901	missense variant	-	NC_000002.12:g.27461447C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg755Ter	rs1432342966	stop gained	-	NC_000002.12:g.27461448G>A	TOPMed
IFT172	Q9UG01	p.Arg755Gln	rs78631901	missense variant	-	NC_000002.12:g.27461447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu758Gln	rs769666948	missense variant	-	NC_000002.12:g.27461439C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gln760His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27461431C>A	NCI-TCGA
IFT172	Q9UG01	p.Glu761Lys	rs376411555	missense variant	-	NC_000002.12:g.27461430C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Glu761Gln	rs376411555	missense variant	-	NC_000002.12:g.27461430C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ser762Gly	rs776965352	missense variant	-	NC_000002.12:g.27461427T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asp765Asn	rs367874978	missense variant	-	NC_000002.12:g.27461418C>T	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu767Pro	rs1238600885	missense variant	-	NC_000002.12:g.27461411A>G	gnomAD
IFT172	Q9UG01	p.Ala768Thr	rs1304667688	missense variant	-	NC_000002.12:g.27461409C>T	TOPMed
IFT172	Q9UG01	p.Ile770Val	rs145926013	missense variant	-	NC_000002.12:g.27461403T>C	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile770Met	rs747166388	missense variant	-	NC_000002.12:g.27461401G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Leu772Phe	rs780136801	missense variant	-	NC_000002.12:g.27461397G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr773Cys	rs1249852160	missense variant	-	NC_000002.12:g.27461393T>C	gnomAD
IFT172	Q9UG01	p.Tyr773Ter	rs772088813	stop gained	-	NC_000002.12:g.27461392G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ala776Val	rs1317766293	missense variant	-	NC_000002.12:g.27461384G>A	gnomAD
IFT172	Q9UG01	p.Ala776Ser	rs1322476579	missense variant	-	NC_000002.12:g.27461385C>A	gnomAD
IFT172	Q9UG01	p.Pro779Ser	rs201229839	missense variant	-	NC_000002.12:g.27461376G>A	gnomAD
IFT172	Q9UG01	p.Ala783Val	rs779389219	missense variant	-	NC_000002.12:g.27461363G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg784Trp	rs137906877	missense variant	-	NC_000002.12:g.27461361G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg784Gln	rs370097039	missense variant	-	NC_000002.12:g.27461360C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu785Val	rs778136710	missense variant	-	NC_000002.12:g.27461358G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Val786Gly	rs1161560541	missense variant	-	NC_000002.12:g.27461354A>C	gnomAD
IFT172	Q9UG01	p.Val786Leu	rs1280203564	missense variant	-	NC_000002.12:g.27461355C>G	TOPMed
IFT172	Q9UG01	p.Arg789Ter	rs202024173	stop gained	-	NC_000002.12:g.27461346G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg789Gln	rs148237432	missense variant	-	NC_000002.12:g.27461345C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg789Leu	rs148237432	missense variant	-	NC_000002.12:g.27461345C>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu790Asp	COSM4093593	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27461341C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Glu790Lys	rs200080072	missense variant	-	NC_000002.12:g.27461343C>T	gnomAD
IFT172	Q9UG01	p.Leu792Pro	rs1195506811	missense variant	-	NC_000002.12:g.27461336A>G	gnomAD
IFT172	Q9UG01	p.Asn795Ser	rs1294096542	missense variant	-	NC_000002.12:g.27461327T>C	gnomAD
IFT172	Q9UG01	p.Glu797Asp	rs765068834	missense variant	-	NC_000002.12:g.27461320C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Leu798Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27461319G>T	NCI-TCGA
IFT172	Q9UG01	p.Glu800Gln	COSM721411	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27461313C>G	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ile802Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27461307T>C	NCI-TCGA
IFT172	Q9UG01	p.Ile802Ser	rs776294904	missense variant	-	NC_000002.12:g.27461306A>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile802Thr	rs776294904	missense variant	-	NC_000002.12:g.27461306A>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr803Ile	rs1305821240	missense variant	-	NC_000002.12:g.27461303G>A	gnomAD
IFT172	Q9UG01	p.Ala805Ser	rs1387032631	missense variant	-	NC_000002.12:g.27461298C>A	gnomAD
IFT172	Q9UG01	p.Ile807Met	rs367649864	missense variant	-	NC_000002.12:g.27461290G>C	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Gly809Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27461286C>A	NCI-TCGA
IFT172	Q9UG01	p.Glu810AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27461283C>-	NCI-TCGA
IFT172	Q9UG01	p.Glu810Asp	rs373768002	missense variant	-	NC_000002.12:g.27461281T>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu810Asp	rs373768002	missense variant	-	NC_000002.12:g.27461281T>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu810Lys	rs1419576695	missense variant	-	NC_000002.12:g.27461283C>T	gnomAD
IFT172	Q9UG01	p.Leu811Val	rs933347695	missense variant	-	NC_000002.12:g.27461280G>C	TOPMed
IFT172	Q9UG01	p.Leu811Ile	rs933347695	missense variant	-	NC_000002.12:g.27461280G>T	TOPMed
IFT172	Q9UG01	p.Glu813Lys	rs1036729851	missense variant	-	NC_000002.12:g.27461274C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg814Lys	rs1363065401	missense variant	-	NC_000002.12:g.27461270C>T	gnomAD
IFT172	Q9UG01	p.Leu818Phe	rs374015331	missense variant	-	NC_000002.12:g.27461084G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu820Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27461078C>G	NCI-TCGA
IFT172	Q9UG01	p.Lys821Glu	rs1317963506	missense variant	-	NC_000002.12:g.27461075T>C	gnomAD
IFT172	Q9UG01	p.Lys821Asn	rs1219610636	missense variant	-	NC_000002.12:g.27461073C>G	TOPMed
IFT172	Q9UG01	p.His823Tyr	rs749811228	missense variant	-	NC_000002.12:g.27461069G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Pro825Thr	rs1224641303	missense variant	-	NC_000002.12:g.27461063G>T	gnomAD
IFT172	Q9UG01	p.Gln826Ter	RCV000722341	nonsense	-	NC_000002.12:g.27461060G>A	ClinVar
IFT172	Q9UG01	p.Gln826His	rs773740605	missense variant	-	NC_000002.12:g.27461058C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Lys827Asn	rs370989190	missense variant	-	NC_000002.12:g.27461055C>G	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Leu829Val	rs781639232	missense variant	-	NC_000002.12:g.27461051G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Glu830Gln	rs758124299	missense variant	-	NC_000002.12:g.27461048C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Glu830Lys	rs758124299	missense variant	-	NC_000002.12:g.27461048C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr832Ter	rs377514145	stop gained	-	NC_000002.12:g.27461040G>T	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Arg833Cys	rs778307866	missense variant	-	NC_000002.12:g.27461039G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg833Gly	rs778307866	missense variant	-	NC_000002.12:g.27461039G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg833His	rs756767071	missense variant	-	NC_000002.12:g.27461038C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly835Ser	rs1474467674	missense variant	-	NC_000002.12:g.27461033C>T	gnomAD
IFT172	Q9UG01	p.Asn836Lys	rs537094673	missense variant	-	NC_000002.12:g.27461028G>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Ala837Thr	rs752494593	missense variant	-	NC_000002.12:g.27461027C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Phe838Leu	COSM1019706	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27461022G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Met839Leu	rs1032027895	missense variant	-	NC_000002.12:g.27461021T>G	TOPMed
IFT172	Q9UG01	p.Ala841Val	rs762431558	missense variant	-	NC_000002.12:g.27459829G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala841Thr	rs1241730843	missense variant	-	NC_000002.12:g.27461015C>T	gnomAD
IFT172	Q9UG01	p.Val842Gly	rs1281470948	missense variant	-	NC_000002.12:g.27459826A>C	gnomAD
IFT172	Q9UG01	p.Glu843Ter	rs769181255	stop gained	-	NC_000002.12:g.27459824C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ala845Thr	rs1335434774	missense variant	-	NC_000002.12:g.27459818C>T	gnomAD
IFT172	Q9UG01	p.Arg846Pro	rs199784373	missense variant	-	NC_000002.12:g.27459814C>G	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg846Ter	rs761095604	stop gained	-	NC_000002.12:g.27459815G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg846Leu	rs199784373	missense variant	-	NC_000002.12:g.27459814C>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg846Gln	rs199784373	missense variant	-	NC_000002.12:g.27459814C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu847Met	rs748853554	missense variant	-	NC_000002.12:g.27459812A>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro850Ala	rs1401639649	missense variant	-	NC_000002.12:g.27459803G>C	gnomAD
IFT172	Q9UG01	p.Val851Leu	rs149748534	missense variant	-	NC_000002.12:g.27459800C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val851Leu	RCV000606515	missense variant	-	NC_000002.12:g.27459800C>A	ClinVar
IFT172	Q9UG01	p.Glu857Asp	COSM4093590	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27459780C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Glu858Asp	rs1312524639	missense variant	-	NC_000002.12:g.27459777C>A	TOPMed
IFT172	Q9UG01	p.Trp860Arg	rs748125718	missense variant	-	NC_000002.12:g.27459773A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Asp862ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27459767C>-	NCI-TCGA
IFT172	Q9UG01	p.Asp862GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27459766_27459767insC	NCI-TCGA
IFT172	Q9UG01	p.Asp862Glu	rs1290925131	missense variant	-	NC_000002.12:g.27459765G>T	gnomAD
IFT172	Q9UG01	p.Asp862Asn	COSM4393568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27459767C>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.His863Asp	rs565473328	missense variant	-	NC_000002.12:g.27459764G>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Val865Met	rs758674130	missense variant	-	NC_000002.12:g.27459758C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Gln866Arg	rs139229844	missense variant	-	NC_000002.12:g.27459754T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln866Arg	RCV000622689	missense variant	Inborn genetic diseases	NC_000002.12:g.27459754T>C	ClinVar
IFT172	Q9UG01	p.Gln866Arg	RCV000797619	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27459754T>C	ClinVar
IFT172	Q9UG01	p.Gln867Ter	rs765455796	stop gained	-	NC_000002.12:g.27459752G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Lys868Glu	rs571708583	missense variant	-	NC_000002.12:g.27459749T>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Leu870Phe	rs754461372	missense variant	-	NC_000002.12:g.27459743G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ala872Val	rs1432058371	missense variant	-	NC_000002.12:g.27459736G>A	gnomAD
IFT172	Q9UG01	p.Ala873Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27459733G>T	NCI-TCGA
IFT172	Q9UG01	p.Ile874Thr	rs1400491164	missense variant	-	NC_000002.12:g.27459730A>G	gnomAD
IFT172	Q9UG01	p.Ile874Val	rs1157302608	missense variant	-	NC_000002.12:g.27459731T>C	gnomAD
IFT172	Q9UG01	p.His876Asn	COSM2153594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27459725G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ile878Thr	rs1479155814	missense variant	-	NC_000002.12:g.27459718A>G	gnomAD
IFT172	Q9UG01	p.Ile878Val	rs1045778698	missense variant	-	NC_000002.12:g.27459719T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Glu879Lys	rs1186631165	missense variant	-	NC_000002.12:g.27459716C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg881Gly	rs1240302436	missense variant	-	NC_000002.12:g.27459710T>C	gnomAD
IFT172	Q9UG01	p.Cys882Trp	rs1309394469	missense variant	-	NC_000002.12:g.27459519G>C	gnomAD
IFT172	Q9UG01	p.Ile884Phe	rs1214538397	missense variant	-	NC_000002.12:g.27459515T>A	gnomAD
IFT172	Q9UG01	p.Lys885Glu	rs975731134	missense variant	-	NC_000002.12:g.27459512T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Ala886Val	rs764042345	missense variant	-	NC_000002.12:g.27459508G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ile887Thr	rs761267426	missense variant	-	NC_000002.12:g.27459505A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Glu888Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27459503C>T	NCI-TCGA
IFT172	Q9UG01	p.Ala889Ser	rs1011528696	missense variant	-	NC_000002.12:g.27459500C>A	TOPMed
IFT172	Q9UG01	p.Ala890Thr	rs202216329	missense variant	-	NC_000002.12:g.27459497C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu891Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27459494G>T	NCI-TCGA
IFT172	Q9UG01	p.Gly892Asp	rs1431975735	missense variant	-	NC_000002.12:g.27459490C>T	TOPMed
IFT172	Q9UG01	p.Ala893Val	rs772910546	missense variant	-	NC_000002.12:g.27459487G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg894Cys	rs370531520	missense variant	-	NC_000002.12:g.27459485G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg894His	rs561927411	missense variant	-	NC_000002.12:g.27459484C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Lys897Asn	rs1320948238	missense variant	-	NC_000002.12:g.27459474C>A	TOPMed
IFT172	Q9UG01	p.Lys897Ter	rs761385238	stop gained	-	NC_000002.12:g.27459476T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Lys898Arg	rs777438968	missense variant	-	NC_000002.12:g.27459472T>C	gnomAD
IFT172	Q9UG01	p.Ala899Thr	rs776148073	missense variant	-	NC_000002.12:g.27459470C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr901Cys	rs1178042477	missense variant	-	NC_000002.12:g.27459463T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Ile902Val	rs549430636	missense variant	-	NC_000002.12:g.27459461T>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Ile902Met	rs527662034	missense variant	-	NC_000002.12:g.27459459T>C	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp904Gly	rs1360727366	missense variant	-	NC_000002.12:g.27459454T>C	gnomAD
IFT172	Q9UG01	p.Leu905Val	rs1285096531	missense variant	-	NC_000002.12:g.27459452G>C	TOPMed
IFT172	Q9UG01	p.Gln906Ter	RCV000083272	nonsense	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27459449G>A	ClinVar
IFT172	Q9UG01	p.Gln906Ter	rs587777081	stop gained	-	NC_000002.12:g.27459449G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg908Gln	RCV000422827	missense variant	-	NC_000002.12:g.27459442C>T	ClinVar
IFT172	Q9UG01	p.Arg908Gln	RCV000525258	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27459442C>T	ClinVar
IFT172	Q9UG01	p.Arg908Gln	rs61747073	missense variant	-	NC_000002.12:g.27459442C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg908Trp	rs745644146	missense variant	-	NC_000002.12:g.27459443G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr910Ala	rs1307237642	missense variant	-	NC_000002.12:g.27459437T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Ser912Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27459430G>A	NCI-TCGA
IFT172	Q9UG01	p.Tyr915His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27459422A>G	NCI-TCGA
IFT172	Q9UG01	p.Tyr915Cys	rs749474609	missense variant	-	NC_000002.12:g.27459421T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Pro916Ala	rs1217523253	missense variant	-	NC_000002.12:g.27459419G>C	gnomAD
IFT172	Q9UG01	p.Val918Met	rs756120365	missense variant	-	NC_000002.12:g.27459413C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln920Ter	rs374488959	stop gained	-	NC_000002.12:g.27459407G>A	ESP,TOPMed
IFT172	Q9UG01	p.His921Tyr	rs1423737027	missense variant	-	NC_000002.12:g.27459404G>A	gnomAD
IFT172	Q9UG01	p.Tyr922Ter	rs750338419	stop gained	-	NC_000002.12:g.27459400dup	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr922Cys	rs767901253	missense variant	-	NC_000002.12:g.27459400T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr922Ter	RCV000515844	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000002.12:g.27459400dup	ClinVar
IFT172	Q9UG01	p.Tyr922Phe	rs767901253	missense variant	-	NC_000002.12:g.27459400T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser924Ala	rs142409945	missense variant	-	NC_000002.12:g.27459395A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser924Ala	RCV000542399	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27459395A>C	ClinVar
IFT172	Q9UG01	p.Ser924Ala	RCV000624406	missense variant	Inborn genetic diseases	NC_000002.12:g.27459395A>C	ClinVar
IFT172	Q9UG01	p.Leu925Gln	rs1248705918	missense variant	-	NC_000002.12:g.27459391A>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Gln926HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27459387_27459388insCTTGTGGGCTTGTTCCCAACGACCAGCCTGGG	NCI-TCGA
IFT172	Q9UG01	p.Gln926Ter	rs376069249	stop gained	-	NC_000002.12:g.27459389G>A	gnomAD
IFT172	Q9UG01	p.Ala931Ser	rs72850632	missense variant	-	NC_000002.12:g.27458865C>A	1000Genomes,gnomAD
IFT172	Q9UG01	p.Lys937Glu	rs1000172880	missense variant	-	NC_000002.12:g.27458847T>C	-
IFT172	Q9UG01	p.Arg940Gln	rs761248577	missense variant	-	NC_000002.12:g.27458837C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg940Leu	rs761248577	missense variant	-	NC_000002.12:g.27458837C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg940Gly	rs760316903	missense variant	-	NC_000002.12:g.27458838G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg940Trp	rs760316903	missense variant	-	NC_000002.12:g.27458838G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr941Ala	rs1387697027	missense variant	-	NC_000002.12:g.27458835T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Lys942Glu	rs1320104632	missense variant	-	NC_000002.12:g.27458832T>C	gnomAD
IFT172	Q9UG01	p.Asp943His	rs767088050	missense variant	-	NC_000002.12:g.27458829C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ala944Val	rs759597621	missense variant	-	NC_000002.12:g.27458825G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ala944Thr	rs1212261759	missense variant	-	NC_000002.12:g.27458826C>T	gnomAD
IFT172	Q9UG01	p.Ile945Val	rs1477777983	missense variant	-	NC_000002.12:g.27458823T>C	gnomAD
IFT172	Q9UG01	p.Ile945Thr	COSM1407465	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27458822A>G	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Met947Arg	rs1196018893	missense variant	-	NC_000002.12:g.27458816A>C	gnomAD
IFT172	Q9UG01	p.Met947Val	rs774401568	missense variant	-	NC_000002.12:g.27458817T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met947Thr	rs1196018893	missense variant	-	NC_000002.12:g.27458816A>G	gnomAD
IFT172	Q9UG01	p.Tyr948Cys	rs770919382	missense variant	-	NC_000002.12:g.27458813T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Thr949Asn	rs1275938087	missense variant	-	NC_000002.12:g.27458810G>T	TOPMed
IFT172	Q9UG01	p.Ala951Val	rs1204609495	missense variant	-	NC_000002.12:g.27458804G>A	TOPMed
IFT172	Q9UG01	p.Ala951Thr	rs1306498449	missense variant	-	NC_000002.12:g.27458805C>T	TOPMed
IFT172	Q9UG01	p.Gly952Val	rs1252622525	missense variant	-	NC_000002.12:g.27458801C>A	TOPMed
IFT172	Q9UG01	p.Arg953His	RCV000433350	missense variant	-	NC_000002.12:g.27458798C>T	ClinVar
IFT172	Q9UG01	p.Arg953His	rs704793	missense variant	-	NC_000002.12:g.27458798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg953Cys	rs762645007	missense variant	-	NC_000002.12:g.27458799G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Trp954Cys	rs1481312135	missense variant	-	NC_000002.12:g.27458794C>A	TOPMed
IFT172	Q9UG01	p.Trp954Ter	rs1481312135	stop gained	-	NC_000002.12:g.27458794C>T	TOPMed
IFT172	Q9UG01	p.Glu955Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27458792T>C	NCI-TCGA
IFT172	Q9UG01	p.Gln956Ter	rs144450109	stop gained	-	NC_000002.12:g.27458790G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala957Val	rs901720815	missense variant	-	NC_000002.12:g.27458786G>A	gnomAD
IFT172	Q9UG01	p.His958Pro	rs748358110	missense variant	-	NC_000002.12:g.27458783T>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys959Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27458779C>A	NCI-TCGA
IFT172	Q9UG01	p.Lys959Arg	rs1225204664	missense variant	-	NC_000002.12:g.27458780T>C	gnomAD
IFT172	Q9UG01	p.Lys959Glu	rs1271431771	missense variant	-	NC_000002.12:g.27458781T>C	gnomAD
IFT172	Q9UG01	p.Ala961Thr	rs772908148	missense variant	-	NC_000002.12:g.27458220C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ala961Val	rs769578794	missense variant	-	NC_000002.12:g.27458219G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ala961Gly	rs769578794	missense variant	-	NC_000002.12:g.27458219G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Met962Val	rs541501287	missense variant	-	NC_000002.12:g.27458217T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys964Arg	rs1164843618	missense variant	-	NC_000002.12:g.27458211A>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg966Thr	rs1009534874	missense variant	-	NC_000002.12:g.27458204C>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Pro967Leu	rs768789372	missense variant	-	NC_000002.12:g.27458201G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Asp969Gly	rs747076360	missense variant	-	NC_000002.12:g.27458195T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Val972Leu	rs1470282388	missense variant	-	NC_000002.12:g.27458187C>G	gnomAD
IFT172	Q9UG01	p.Leu973Val	rs1461476129	missense variant	-	NC_000002.12:g.27458184G>C	TOPMed
IFT172	Q9UG01	p.Ile975Phe	rs772460896	missense variant	-	NC_000002.12:g.27458178T>A	ExAC
IFT172	Q9UG01	p.Gln977Glu	rs1430982419	missense variant	-	NC_000002.12:g.27458172G>C	TOPMed
IFT172	Q9UG01	p.Ala978Ser	rs746338436	missense variant	-	NC_000002.12:g.27458169C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Met981Ile	rs779195226	missense variant	-	NC_000002.12:g.27458158C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln984His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27458149C>G	NCI-TCGA
IFT172	Q9UG01	p.Gln984Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.27458151G>A	NCI-TCGA
IFT172	Q9UG01	p.Gly985Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27458147C>T	NCI-TCGA
IFT172	Q9UG01	p.Gly985Ser	rs369780709	missense variant	-	NC_000002.12:g.27458148C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg988His	rs201853736	missense variant	-	NC_000002.12:g.27458138C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg988Cys	rs780982171	missense variant	-	NC_000002.12:g.27458139G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu991Lys	rs751123473	missense variant	-	NC_000002.12:g.27458130C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu991Gln	rs751123473	missense variant	-	NC_000002.12:g.27458130C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr994Cys	rs994624984	missense variant	-	NC_000002.12:g.27457971T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Val995Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27457969C>T	NCI-TCGA
IFT172	Q9UG01	p.Val997Ile	rs1181361766	missense variant	-	NC_000002.12:g.27457963C>T	TOPMed
IFT172	Q9UG01	p.Gln998Arg	rs1187088472	missense variant	-	NC_000002.12:g.27457959T>C	gnomAD
IFT172	Q9UG01	p.Gln998His	rs753483115	missense variant	-	NC_000002.12:g.27457958T>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro1000Ala	rs569281478	missense variant	-	NC_000002.12:g.27457954G>C	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro1000His	rs775659689	missense variant	-	NC_000002.12:g.27457953G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Pro1000Leu	rs775659689	missense variant	-	NC_000002.12:g.27457953G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Pro1000Ser	rs569281478	missense variant	-	NC_000002.12:g.27457954G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu1002His	rs369466577	missense variant	-	NC_000002.12:g.27457947A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1003Pro	rs1158866336	missense variant	-	NC_000002.12:g.27457945C>G	TOPMed
IFT172	Q9UG01	p.Ala1003Val	rs1263997748	missense variant	-	NC_000002.12:g.27457944G>A	gnomAD
IFT172	Q9UG01	p.Thr1005Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27457938G>A	NCI-TCGA
IFT172	Q9UG01	p.Thr1005Ala	rs774240568	missense variant	-	NC_000002.12:g.27457939T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met1006Val	rs1301146365	missense variant	-	NC_000002.12:g.27457936T>C	gnomAD
IFT172	Q9UG01	p.Tyr1007Ter	rs1215624237	stop gained	-	NC_000002.12:g.27457931G>T	gnomAD
IFT172	Q9UG01	p.Tyr1007Ser	rs1459077573	missense variant	-	NC_000002.12:g.27457932T>G	TOPMed
IFT172	Q9UG01	p.Lys1008Arg	rs372047259	missense variant	-	NC_000002.12:g.27457929T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Lys1008Thr	rs372047259	missense variant	-	NC_000002.12:g.27457929T>G	ExAC,gnomAD
IFT172	Q9UG01	p.His1010Gln	rs201607202	missense variant	-	NC_000002.12:g.27457922G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr1013Ter	rs1453412968	stop gained	-	NC_000002.12:g.27457913A>T	TOPMed
IFT172	Q9UG01	p.Tyr1013His	rs1382174815	missense variant	-	NC_000002.12:g.27457915A>G	TOPMed
IFT172	Q9UG01	p.Asp1014Val	rs200961120	missense variant	-	NC_000002.12:g.27457911T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1015Glu	rs766104575	missense variant	-	NC_000002.12:g.27457907G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1015Asn	rs779749730	missense variant	-	NC_000002.12:g.27457909C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1018Cys	rs1358114348	missense variant	-	NC_000002.12:g.27457900G>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1018His	rs375879787	missense variant	-	NC_000002.12:g.27457899C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1018Gly	COSM3580630	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27457900G>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Gly1021Trp	rs778217809	missense variant	-	NC_000002.12:g.27457891C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Lys1022SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27457876_27457889CTGGATGGTGCTTC>-	NCI-TCGA
IFT172	Q9UG01	p.Lys1022Asn	rs1187626381	missense variant	-	NC_000002.12:g.27457886C>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1022Asn	rs1187626381	missense variant	-	NC_000002.12:g.27457886C>A	TOPMed,gnomAD
IFT172	Q9UG01	p.His1023Gln	rs753725281	missense variant	-	NC_000002.12:g.27457883G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His1024Tyr	rs1015472885	missense variant	-	NC_000002.12:g.27457882G>A	TOPMed
IFT172	Q9UG01	p.Pro1025Ala	RCV000523121	missense variant	-	NC_000002.12:g.27457879G>C	ClinVar
IFT172	Q9UG01	p.Pro1025Ala	rs61747068	missense variant	-	NC_000002.12:g.27457879G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro1025Leu	rs866372690	missense variant	-	NC_000002.12:g.27457878G>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1026His	rs1182424796	missense variant	-	NC_000002.12:g.27457876C>G	TOPMed
IFT172	Q9UG01	p.Leu1027Ile	rs1365374137	missense variant	-	NC_000002.12:g.27457873G>T	TOPMed
IFT172	Q9UG01	p.Leu1028Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27457870G>A	NCI-TCGA
IFT172	Q9UG01	p.Leu1028Val	rs1183854151	missense variant	-	NC_000002.12:g.27457870G>C	gnomAD
IFT172	Q9UG01	p.Asp1030Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27457864C>T	NCI-TCGA
IFT172	Q9UG01	p.Asp1030Gly	rs1174581398	missense variant	-	NC_000002.12:g.27457863T>C	TOPMed
IFT172	Q9UG01	p.His1032Tyr	rs752920969	missense variant	-	NC_000002.12:g.27457858G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His1034Tyr	rs370373855	missense variant	-	NC_000002.12:g.27457852G>A	ESP,TOPMed
IFT172	Q9UG01	p.His1034Arg	rs767795893	missense variant	-	NC_000002.12:g.27457851T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1036Ser	rs1394415431	missense variant	-	NC_000002.12:g.27457846C>T	TOPMed
IFT172	Q9UG01	p.Leu1039Pro	rs1198342678	missense variant	-	NC_000002.12:g.27457751A>G	TOPMed
IFT172	Q9UG01	p.Ala1041Ser	rs1469030001	missense variant	-	NC_000002.12:g.27457746C>A	gnomAD
IFT172	Q9UG01	p.Glu1042Lys	COSM5048180	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27457743C>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Glu1042Gln	rs1267555539	missense variant	-	NC_000002.12:g.27457743C>G	gnomAD
IFT172	Q9UG01	p.Arg1044Gln	rs755990223	missense variant	-	NC_000002.12:g.27457736C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Arg1044Ter	rs777676427	stop gained	-	NC_000002.12:g.27457737G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Leu1045Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27457734G>T	NCI-TCGA
IFT172	Q9UG01	p.Gln1046Arg	rs1307351360	missense variant	-	NC_000002.12:g.27457730T>C	gnomAD
IFT172	Q9UG01	p.Glu1049Asp	rs780813074	missense variant	-	NC_000002.12:g.27457720C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Glu1049Ala	rs138139922	missense variant	-	NC_000002.12:g.27457721T>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His1051Tyr	rs149431727	missense variant	-	NC_000002.12:g.27457716G>A	1000Genomes,ExAC
IFT172	Q9UG01	p.Tyr1052Ter	rs1306904086	stop gained	-	NC_000002.12:g.27457711G>C	gnomAD
IFT172	Q9UG01	p.Glu1054Gln	rs763117647	missense variant	-	NC_000002.12:g.27457707C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1054Lys	rs763117647	missense variant	-	NC_000002.12:g.27457707C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1057Lys	rs965308990	missense variant	-	NC_000002.12:g.27457698C>T	TOPMed
IFT172	Q9UG01	p.Lys1059Arg	rs1235067668	missense variant	-	NC_000002.12:g.27457691T>C	gnomAD
IFT172	Q9UG01	p.Ala1060Thr	rs560379580	missense variant	-	NC_000002.12:g.27457689C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met1064Thr	rs777083938	missense variant	-	NC_000002.12:g.27457676A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Met1064Val	rs1160168254	missense variant	-	NC_000002.12:g.27457677T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr1065His	rs1409801629	missense variant	-	NC_000002.12:g.27457674A>G	gnomAD
IFT172	Q9UG01	p.Arg1066Trp	rs148997142	missense variant	-	NC_000002.12:g.27457671G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1066Gln	rs759282959	missense variant	-	NC_000002.12:g.27457670C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1069Glu	rs1208430808	missense variant	-	NC_000002.12:g.27457661C>T	gnomAD
IFT172	Q9UG01	p.Glu1073Gln	COSM4833762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27457650C>G	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ala1074Thr	rs1488393984	missense variant	-	NC_000002.12:g.27457647C>T	gnomAD
IFT172	Q9UG01	p.Arg1076Gly	rs770486522	missense variant	-	NC_000002.12:g.27457641T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1082Arg	rs1008321384	missense variant	-	NC_000002.12:g.27456638C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1083Val	rs762555189	missense variant	-	NC_000002.12:g.27456634C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1083Glu	rs762555189	missense variant	-	NC_000002.12:g.27456634C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn1085Ser	rs201708546	missense variant	-	NC_000002.12:g.27456628T>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Ala1086Val	rs1248268202	missense variant	-	NC_000002.12:g.27456625G>A	TOPMed
IFT172	Q9UG01	p.His1089Arg	rs1170913416	missense variant	-	NC_000002.12:g.27456616T>C	gnomAD
IFT172	Q9UG01	p.Val1090Met	rs76076247	missense variant	-	NC_000002.12:g.27456614C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr1092Cys	rs1317947227	missense variant	-	NC_000002.12:g.27456607T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr1092Ser	rs1317947227	missense variant	-	NC_000002.12:g.27456607T>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1096Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27456594C>G	NCI-TCGA
IFT172	Q9UG01	p.Lys1096Arg	rs768550580	missense variant	-	NC_000002.12:g.27456595T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1099Val	rs746791122	missense variant	-	NC_000002.12:g.27456586C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1099Glu	rs746791122	missense variant	-	NC_000002.12:g.27456586C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1100Arg	rs1253404730	missense variant	-	NC_000002.12:g.27456584C>T	gnomAD
IFT172	Q9UG01	p.Glu1101Lys	COSM4853934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27456581C>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ala1102Pro	rs1339921326	missense variant	-	NC_000002.12:g.27456578C>G	gnomAD
IFT172	Q9UG01	p.Ala1103Ser	rs1276771537	missense variant	-	NC_000002.12:g.27456575C>A	gnomAD
IFT172	Q9UG01	p.Arg1105Thr	rs200867341	missense variant	-	NC_000002.12:g.27456568C>G	gnomAD
IFT172	Q9UG01	p.Glu1114Val	rs746036739	missense variant	-	NC_000002.12:g.27456541T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Glu1114Ala	rs746036739	missense variant	-	NC_000002.12:g.27456541T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ala1115Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27456539C>A	NCI-TCGA
IFT172	Q9UG01	p.Ala1116Thr	rs1332196216	missense variant	-	NC_000002.12:g.27456536C>T	gnomAD
IFT172	Q9UG01	p.Val1117Ala	rs1399274328	missense variant	-	NC_000002.12:g.27456532A>G	gnomAD
IFT172	Q9UG01	p.Ala1120Thr	rs754427502	missense variant	-	NC_000002.12:g.27456524C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1120Ser	rs754427502	missense variant	-	NC_000002.12:g.27456524C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1121Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27456521C>G	NCI-TCGA
IFT172	Q9UG01	p.Ala1121Val	rs764523112	missense variant	-	NC_000002.12:g.27456520G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Asn1123Tyr	rs1466577551	missense variant	-	NC_000002.12:g.27456515T>A	TOPMed
IFT172	Q9UG01	p.Asn1123Ser	rs146615936	missense variant	-	NC_000002.12:g.27456514T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys1124Arg	rs931407294	missense variant	-	NC_000002.12:g.27456512A>G	TOPMed
IFT172	Q9UG01	p.Ser1125Phe	rs867680794	missense variant	-	NC_000002.12:g.27454658G>A	-
IFT172	Q9UG01	p.Glu1127Gln	rs1158499870	missense variant	-	NC_000002.12:g.27454653C>G	TOPMed
IFT172	Q9UG01	p.Glu1127Lys	COSM6158113	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27454653C>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ala1129Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27454646G>A	NCI-TCGA
IFT172	Q9UG01	p.Arg1134Leu	RCV000653130	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27454631C>A	ClinVar
IFT172	Q9UG01	p.Arg1134Trp	rs139223261	missense variant	-	NC_000002.12:g.27454632G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1134Leu	rs148624326	missense variant	-	NC_000002.12:g.27454631C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1136Val	rs772059680	missense variant	-	NC_000002.12:g.27454625G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ala1136Gly	rs772059680	missense variant	-	NC_000002.12:g.27454625G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Leu1137Val	rs759417569	missense variant	-	NC_000002.12:g.27454623G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr1141Ile	rs1457402081	missense variant	-	NC_000002.12:g.27454610G>A	gnomAD
IFT172	Q9UG01	p.Glu1143Lys	rs144121974	missense variant	-	NC_000002.12:g.27454605C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1144Phe	rs749475657	missense variant	-	NC_000002.12:g.27454602C>A	ExAC,gnomAD
IFT172	Q9UG01	p.His1145Gln	rs202111577	missense variant	-	NC_000002.12:g.27454597A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His1145Gln	rs202111577	missense variant	-	NC_000002.12:g.27454597A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His1145Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27454599G>A	NCI-TCGA
IFT172	Q9UG01	p.Tyr1148Cys	rs1352823033	missense variant	-	NC_000002.12:g.27454589T>C	TOPMed
IFT172	Q9UG01	p.Ala1149Ser	rs1235174997	missense variant	-	NC_000002.12:g.27454587C>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Met1150Thr	rs1477017022	missense variant	-	NC_000002.12:g.27454583A>G	gnomAD
IFT172	Q9UG01	p.Met1150Ile	rs147411312	missense variant	-	NC_000002.12:g.27454582C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met1150Val	rs769882549	missense variant	-	NC_000002.12:g.27454584T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Phe1151Leu	rs559668627	missense variant	-	NC_000002.12:g.27454579G>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1154Asn	rs1465461618	missense variant	-	NC_000002.12:g.27454572C>T	gnomAD
IFT172	Q9UG01	p.Glu1155Lys	rs751929782	missense variant	-	NC_000002.12:g.27454569C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1156Ser	COSM3580629	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27454418C>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Glu1159Lys	rs748244135	missense variant	-	NC_000002.12:g.27454409C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ala1161Val	COSM5862338	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27454402G>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ala1163Val	rs1242470983	missense variant	-	NC_000002.12:g.27454396G>A	gnomAD
IFT172	Q9UG01	p.Ile1166Val	rs1461207792	missense variant	-	NC_000002.12:g.27454388T>C	TOPMed
IFT172	Q9UG01	p.Arg1167Thr	rs139334344	missense variant	-	NC_000002.12:g.27454384C>G	1000Genomes
IFT172	Q9UG01	p.Pro1171Ala	rs747503760	missense variant	-	NC_000002.12:g.27454373G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro1171Ser	rs747503760	missense variant	-	NC_000002.12:g.27454373G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1172Thr	rs1358493781	missense variant	-	NC_000002.12:g.27454369T>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Val1175Ile	rs780334650	missense variant	-	NC_000002.12:g.27454361C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Leu1176Phe	rs1371714157	missense variant	-	NC_000002.12:g.27454358G>A	TOPMed
IFT172	Q9UG01	p.Val1179Phe	rs747778476	missense variant	-	NC_000002.12:g.27454158C>A	ExAC,gnomAD
IFT172	Q9UG01	p.His1180Tyr	rs746868013	missense variant	-	NC_000002.12:g.27454155G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn1181Asp	rs1229705209	missense variant	-	NC_000002.12:g.27454152T>C	gnomAD
IFT172	Q9UG01	p.Ala1186Thr	rs751505458	missense variant	-	NC_000002.12:g.27454137C>T	ExAC
IFT172	Q9UG01	p.Ala1187Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27454133G>T	NCI-TCGA
IFT172	Q9UG01	p.Ala1187Val	COSM1407462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27454133G>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Gln1188Ter	rs983926349	stop gained	-	NC_000002.12:g.27454131G>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1189Cys	rs371604610	missense variant	-	NC_000002.12:g.27454128G>A	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Arg1189His	rs367806691	missense variant	-	NC_000002.12:g.27454127C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1190Met	rs1456528874	missense variant	-	NC_000002.12:g.27454125C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1192Gly	rs1356192791	missense variant	-	NC_000002.12:g.27454118T>C	TOPMed
IFT172	Q9UG01	p.His1194Tyr	rs764965204	missense variant	-	NC_000002.12:g.27454113G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His1194Asp	rs764965204	missense variant	-	NC_000002.12:g.27454113G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1195Asn	rs762074176	missense variant	-	NC_000002.12:g.27454110C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro1196Arg	rs754030652	missense variant	-	NC_000002.12:g.27454106G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asp1197Val	rs760796294	missense variant	-	NC_000002.12:g.27454103T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1197Gly	rs760796294	missense variant	-	NC_000002.12:g.27454103T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1198Gly	rs953195451	missense variant	-	NC_000002.12:g.27454101T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Val1199Ile	rs772665705	missense variant	-	NC_000002.12:g.27454098C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1200Pro	rs377521375	missense variant	-	NC_000002.12:g.27454095C>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1200Thr	rs377521375	missense variant	-	NC_000002.12:g.27454095C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1200Ser	rs377521375	missense variant	-	NC_000002.12:g.27454095C>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1201Lys	rs747872724	missense variant	-	NC_000002.12:g.27454092C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1204Leu	rs7580439	missense variant	-	NC_000002.12:g.27454083C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln1206Glu	rs1313893050	missense variant	-	NC_000002.12:g.27454077G>C	gnomAD
IFT172	Q9UG01	p.Ala1207Val	rs746530471	missense variant	-	NC_000002.12:g.27454073G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg1208Trp	rs779395435	missense variant	-	NC_000002.12:g.27454071G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg1208Gln	rs758387302	missense variant	-	NC_000002.12:g.27454070C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1208Pro	rs758387302	missense variant	-	NC_000002.12:g.27454070C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1209Arg	rs1321523578	missense variant	-	NC_000002.12:g.27454068C>T	gnomAD
IFT172	Q9UG01	p.Ala1210Thr	rs750339927	missense variant	-	NC_000002.12:g.27454065C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ala1210ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27454065C>-	NCI-TCGA
IFT172	Q9UG01	p.Ala1210Pro	rs750339927	missense variant	-	NC_000002.12:g.27454065C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Leu1211Val	rs1376355040	missense variant	-	NC_000002.12:g.27454062A>C	TOPMed
IFT172	Q9UG01	p.Leu1211Trp	rs532669006	missense variant	-	NC_000002.12:g.27454061A>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Glu1212Lys	rs764315033	missense variant	-	NC_000002.12:g.27454059C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Glu1212Ter	rs764315033	stop gained	-	NC_000002.12:g.27454059C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Glu1213Lys	rs760768488	missense variant	-	NC_000002.12:g.27454056C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1214Asn	rs1379888681	missense variant	-	NC_000002.12:g.27454051C>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1215Asn	rs777398021	missense variant	-	NC_000002.12:g.27454050C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln1217Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.27454044G>A	NCI-TCGA
IFT172	Q9UG01	p.Glu1220Ter	rs865947014	stop gained	-	NC_000002.12:g.27454035C>A	gnomAD
IFT172	Q9UG01	p.Glu1220Lys	rs865947014	missense variant	-	NC_000002.12:g.27454035C>T	gnomAD
IFT172	Q9UG01	p.Gly1221Ala	rs1454157190	missense variant	-	NC_000002.12:g.27454031C>G	gnomAD
IFT172	Q9UG01	p.Gly1221Glu	rs1454157190	missense variant	-	NC_000002.12:g.27454031C>T	gnomAD
IFT172	Q9UG01	p.Arg1225Gln	rs141440865	missense variant	-	NC_000002.12:g.27454019C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1225Trp	rs148305851	missense variant	-	NC_000002.12:g.27454020G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln1227His	rs1346170761	missense variant	-	NC_000002.12:g.27454012C>G	TOPMed
IFT172	Q9UG01	p.Arg1228Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27454010C>A	NCI-TCGA
IFT172	Q9UG01	p.Pro1229Leu	rs1200537384	missense variant	-	NC_000002.12:g.27454007G>A	gnomAD
IFT172	Q9UG01	p.Pro1229Ser	rs571632405	missense variant	-	NC_000002.12:g.27454008G>A	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Gly1230Arg	rs1347028750	missense variant	-	NC_000002.12:g.27454005C>G	gnomAD
IFT172	Q9UG01	p.Asn1234Asp	rs746597294	missense variant	-	NC_000002.12:g.27453993T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn1234Tyr	rs746597294	missense variant	-	NC_000002.12:g.27453993T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn1234His	rs746597294	missense variant	-	NC_000002.12:g.27453993T>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn1234Lys	rs1342661027	missense variant	-	NC_000002.12:g.27453991A>C	gnomAD
IFT172	Q9UG01	p.Tyr1236Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27453987A>C	NCI-TCGA
IFT172	Q9UG01	p.Glu1238Lys	rs1395282355	missense variant	-	NC_000002.12:g.27453739C>T	gnomAD
IFT172	Q9UG01	p.Glu1238Ala	rs553301895	missense variant	-	NC_000002.12:g.27453738T>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1239Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27453735G>A	NCI-TCGA
IFT172	Q9UG01	p.Ser1243Asn	rs145507269	missense variant	-	NC_000002.12:g.27453723C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1243Ile	rs145507269	missense variant	-	NC_000002.12:g.27453723C>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1244His	rs1186609381	missense variant	-	NC_000002.12:g.27453721C>G	gnomAD
IFT172	Q9UG01	p.Ala1245Thr	rs748457958	missense variant	-	NC_000002.12:g.27453718C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Leu1246Met	COSM3580627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27453715G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Arg1247Cys	rs375755957	missense variant	-	NC_000002.12:g.27453712G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1247His	rs755179952	missense variant	-	NC_000002.12:g.27453711C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys1249Ser	rs139455520	missense variant	-	NC_000002.12:g.27453705C>G	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys1249Tyr	rs139455520	missense variant	-	NC_000002.12:g.27453705C>T	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1251Glu	COSM3580626	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27453698G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Asp1251Tyr	rs751716803	missense variant	-	NC_000002.12:g.27453700C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr1252Cys	rs766521095	missense variant	-	NC_000002.12:g.27453696T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ser1255Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27453687C>T	NCI-TCGA
IFT172	Q9UG01	p.Ser1255Ile	rs750866849	missense variant	-	NC_000002.12:g.27453687C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Gln1256Arg	rs765703265	missense variant	-	NC_000002.12:g.27453684T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Leu1257Pro	rs1445202187	missense variant	-	NC_000002.12:g.27453681A>G	TOPMed
IFT172	Q9UG01	p.Leu1257Met	rs373382907	missense variant	-	NC_000002.12:g.27453682G>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1258Lys	rs529914770	missense variant	-	NC_000002.12:g.27453679C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1259Val	rs1163562316	missense variant	-	NC_000002.12:g.27453675G>A	gnomAD
IFT172	Q9UG01	p.Ala1259Thr	rs192468798	missense variant	-	NC_000002.12:g.27453676C>T	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Leu1260Val	rs1012597627	missense variant	-	NC_000002.12:g.27453673G>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1265Ter	rs999731005	stop gained	-	NC_000002.12:g.27453658C>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1266Gln	rs770396560	missense variant	-	NC_000002.12:g.27453654C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Arg1266Trp	rs902724768	missense variant	-	NC_000002.12:g.27453655G>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1268Pro	rs749289347	missense variant	-	NC_000002.12:g.27453649C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Thr1269Ser	rs1415804076	missense variant	-	NC_000002.12:g.27453645G>C	TOPMed
IFT172	Q9UG01	p.Lys1270Gln	rs773009469	missense variant	-	NC_000002.12:g.27453643T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Lys1271Asn	rs769711760	missense variant	-	NC_000002.12:g.27453638C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1272Trp	rs1048883218	missense variant	-	NC_000002.12:g.27453637C>A	TOPMed
IFT172	Q9UG01	p.Ala1273Val	rs747898460	missense variant	-	NC_000002.12:g.27453633G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1274Met	rs1176587359	missense variant	-	NC_000002.12:g.27453630C>A	gnomAD
IFT172	Q9UG01	p.Gly1275Val	rs543062539	missense variant	-	NC_000002.12:g.27453511C>A	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Gly1275Cys	rs1178903407	missense variant	-	NC_000002.12:g.27453512C>A	gnomAD
IFT172	Q9UG01	p.Val1276Met	rs1213751170	missense variant	-	NC_000002.12:g.27453509C>T	gnomAD
IFT172	Q9UG01	p.Val1276Ala	rs1446914237	missense variant	-	NC_000002.12:g.27453508A>G	gnomAD
IFT172	Q9UG01	p.Glu1277Gly	rs772708860	missense variant	-	NC_000002.12:g.27453505T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1278Glu	rs145282044	missense variant	-	NC_000002.12:g.27453502C>T	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Phe1279Ser	rs1303152998	missense variant	-	NC_000002.12:g.27453499A>G	gnomAD
IFT172	Q9UG01	p.Val1280Met	rs775789572	missense variant	-	NC_000002.12:g.27453497C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1284Gly	rs1366937730	missense variant	-	NC_000002.12:g.27453485G>C	gnomAD
IFT172	Q9UG01	p.Arg1284Gln	rs147394910	missense variant	-	NC_000002.12:g.27453484C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1284Ter	rs1366937730	stop gained	-	NC_000002.12:g.27453485G>A	gnomAD
IFT172	Q9UG01	p.His1285Gln	rs776343273	missense variant	-	NC_000002.12:g.27453480G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His1285Gln	rs776343273	missense variant	-	NC_000002.12:g.27453480G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Trp1286Arg	rs1359643334	missense variant	-	NC_000002.12:g.27453479A>G	gnomAD
IFT172	Q9UG01	p.Glu1287Gly	rs911402392	missense variant	-	NC_000002.12:g.27453475T>C	TOPMed
IFT172	Q9UG01	p.Glu1287Lys	rs1336146422	missense variant	-	NC_000002.12:g.27453476C>T	gnomAD
IFT172	Q9UG01	p.Ala1289Asp	rs768543764	missense variant	-	NC_000002.12:g.27453469G>T	ExAC
IFT172	Q9UG01	p.Gly1290Ala	rs1432810361	missense variant	-	NC_000002.12:g.27453466C>G	gnomAD
IFT172	Q9UG01	p.Glu1291Gly	RCV000422826	missense variant	-	NC_000002.12:g.27453463T>C	ClinVar
IFT172	Q9UG01	p.Glu1291Gly	rs1057523019	missense variant	-	NC_000002.12:g.27453463T>C	-
IFT172	Q9UG01	p.Glu1291Asp	rs747304738	missense variant	-	NC_000002.12:g.27453462C>A	ExAC
IFT172	Q9UG01	p.Ser1293Ile	rs772364188	missense variant	-	NC_000002.12:g.27453457C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ser1293Gly	rs780413940	missense variant	-	NC_000002.12:g.27453458T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Arg1294Cys	RCV000207410	missense variant	-	NC_000002.12:g.27453455G>A	ClinVar
IFT172	Q9UG01	p.Arg1294Cys	rs369191459	missense variant	-	NC_000002.12:g.27453455G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1294His	rs947637366	missense variant	-	NC_000002.12:g.27453454C>T	TOPMed
IFT172	Q9UG01	p.Val1296Met	rs757728167	missense variant	-	NC_000002.12:g.27453449C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys1298Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27453442C>A	NCI-TCGA
IFT172	Q9UG01	p.Cys1298Arg	rs1475147599	missense variant	-	NC_000002.12:g.27453443A>G	gnomAD
IFT172	Q9UG01	p.Tyr1299Ter	rs778174589	stop gained	-	NC_000002.12:g.27453438G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Lys1301Arg	rs756456526	missense variant	-	NC_000002.12:g.27453433T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1302Gly	rs1279991600	missense variant	-	NC_000002.12:g.27453430A>C	gnomAD
IFT172	Q9UG01	p.Arg1303Ter	RCV000083279	nonsense	Short-rib thoracic dysplasia 10 with polydactyly	NC_000002.12:g.27453428G>A	ClinVar
IFT172	Q9UG01	p.Arg1303Ter	rs587777087	stop gained	-	NC_000002.12:g.27453428G>A	gnomAD
IFT172	Q9UG01	p.Arg1303Gln	rs768194578	missense variant	-	NC_000002.12:g.27453427C>T	gnomAD
IFT172	Q9UG01	p.Gly1306Ala	COSM3798918	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27453418C>G	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Asn1307Ile	rs766021582	missense variant	-	NC_000002.12:g.27453415T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Asn1307Lys	rs377211687	missense variant	-	NC_000002.12:g.27453414G>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1308Arg	rs764778967	missense variant	-	NC_000002.12:g.27453411G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1308Gly	rs373909271	missense variant	-	NC_000002.12:g.27453413T>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1309Ser	rs761699238	missense variant	-	NC_000002.12:g.27453410C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1309Ala	rs776708575	missense variant	-	NC_000002.12:g.27453409C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1309Val	rs776708575	missense variant	-	NC_000002.12:g.27453409C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ala1311Val	rs760562906	missense variant	-	NC_000002.12:g.27453403G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1312Gly	rs1428162033	missense variant	-	NC_000002.12:g.27453400T>C	gnomAD
IFT172	Q9UG01	p.Lys1313Arg	rs772455105	missense variant	-	NC_000002.12:g.27453397T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Cys1314Tyr	rs746055848	missense variant	-	NC_000002.12:g.27453394C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Trp1315Ter	rs778898472	stop gained	-	NC_000002.12:g.27453391C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met1316Val	rs535897445	missense variant	-	NC_000002.12:g.27453389T>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Glu1320Ter	rs769830338	stop gained	-	NC_000002.12:g.27450090C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1320Lys	rs769830338	missense variant	-	NC_000002.12:g.27450090C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile1323Met	COSM442748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27450079G>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Lys1324Arg	rs1252202267	missense variant	-	NC_000002.12:g.27450077T>C	TOPMed
IFT172	Q9UG01	p.Pro1327His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27450068G>T	NCI-TCGA
IFT172	Q9UG01	p.Pro1327Leu	rs1319050867	missense variant	-	NC_000002.12:g.27450068G>A	gnomAD
IFT172	Q9UG01	p.Gln1329His	rs768705269	missense variant	-	NC_000002.12:g.27450061T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1330Cys	rs768990688	missense variant	-	NC_000002.12:g.27450060G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Arg1330His	rs202236985	missense variant	-	NC_000002.12:g.27450059C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn1331Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27450056T>C	NCI-TCGA
IFT172	Q9UG01	p.Glu1333Val	rs370915847	missense variant	-	NC_000002.12:g.27450050T>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1335Ile	rs755670491	missense variant	-	NC_000002.12:g.27450045C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Val1338Leu	rs1426273512	missense variant	-	NC_000002.12:g.27450036C>G	gnomAD
IFT172	Q9UG01	p.Val1338Ala	rs752194741	missense variant	-	NC_000002.12:g.27450035A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ile1343Thr	rs751388481	missense variant	-	NC_000002.12:g.27450020A>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile1345Thr	rs766061673	missense variant	-	NC_000002.12:g.27450014A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1346Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27450011C>G	NCI-TCGA
IFT172	Q9UG01	p.Ser1349Gly	rs765362471	missense variant	-	NC_000002.12:g.27450003T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1349Cys	rs765362471	missense variant	-	NC_000002.12:g.27450003T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1350Val	rs1294982666	missense variant	-	NC_000002.12:g.27449999G>A	gnomAD
IFT172	Q9UG01	p.Ala1352Thr	rs1418646322	missense variant	-	NC_000002.12:g.27449797C>T	TOPMed
IFT172	Q9UG01	p.Glu1353Asp	rs759982263	missense variant	-	NC_000002.12:g.27449792C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Asp1359Gly	COSM721413	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449775T>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Asp1359Tyr	COSM1306677	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449776C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Leu1360Phe	rs774816349	missense variant	-	NC_000002.12:g.27449773G>A	ExAC
IFT172	Q9UG01	p.Glu1363Gly	rs1164069887	missense variant	-	NC_000002.12:g.27449763T>C	gnomAD
IFT172	Q9UG01	p.Asp1366Asn	rs776240963	missense variant	-	NC_000002.12:g.27449755C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1367Val	rs1179409010	missense variant	-	NC_000002.12:g.27449751G>A	gnomAD
IFT172	Q9UG01	p.Ile1369Met	rs747023555	missense variant	-	NC_000002.12:g.27449744G>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1370Lys	rs779981992	missense variant	-	NC_000002.12:g.27449743C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Glu1373Gln	COSM3839292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449734C>G	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Trp1374Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27449729C>G	NCI-TCGA
IFT172	Q9UG01	p.Trp1374Ter	rs201558716	stop gained	-	NC_000002.12:g.27449729C>T	1000Genomes
IFT172	Q9UG01	p.Asn1375Asp	rs926937934	missense variant	-	NC_000002.12:g.27449728T>C	TOPMed
IFT172	Q9UG01	p.Ala1377Thr	rs778634326	missense variant	-	NC_000002.12:g.27449722C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Ala1377Val	rs376824384	missense variant	-	NC_000002.12:g.27449721G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1379His	rs772212247	missense variant	-	NC_000002.12:g.27449715C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1379Cys	rs377326896	missense variant	-	NC_000002.12:g.27449716G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1379Leu	rs772212247	missense variant	-	NC_000002.12:g.27449715C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1382Asn	rs752753656	missense variant	-	NC_000002.12:g.27449705C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1382Ter	rs1324635513	stop gained	-	NC_000002.12:g.27449707T>A	gnomAD
IFT172	Q9UG01	p.Glu1383Lys	rs147668131	missense variant	-	NC_000002.12:g.27449704C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1383Lys	RCV000653126	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27449704C>T	ClinVar
IFT172	Q9UG01	p.Tyr1388Cys	rs376777306	missense variant	-	NC_000002.12:g.27449560T>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1390Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27449555C>A	NCI-TCGA
IFT172	Q9UG01	p.Asp1390Val	rs1034663831	missense variant	-	NC_000002.12:g.27449554T>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1390His	rs756318425	missense variant	-	NC_000002.12:g.27449555C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr1391Cys	rs1221807291	missense variant	-	NC_000002.12:g.27449551T>C	TOPMed
IFT172	Q9UG01	p.Val1392Gly	rs1270300628	missense variant	-	NC_000002.12:g.27449548A>C	TOPMed
IFT172	Q9UG01	p.Asp1393Glu	rs767682929	missense variant	-	NC_000002.12:g.27449544G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asp1393His	rs558148933	missense variant	-	NC_000002.12:g.27449546C>G	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1393Asn	rs558148933	missense variant	-	NC_000002.12:g.27449546C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln1394Glu	rs963343817	missense variant	-	NC_000002.12:g.27449543G>C	TOPMed,gnomAD
IFT172	Q9UG01	p.His1395Gln	rs148360112	missense variant	-	NC_000002.12:g.27449538A>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr1396Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27449536T>C	NCI-TCGA
IFT172	Q9UG01	p.Glu1398Ter	COSM1019701	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.27449531C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Leu1400Pro	rs371612970	missense variant	-	NC_000002.12:g.27449524A>G	ESP,ExAC,TOPMed
IFT172	Q9UG01	p.Lys1401Asn	COSM3426355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449520C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Gln1403His	rs149065251	missense variant	-	NC_000002.12:g.27449514C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1404Ser	rs763238244	missense variant	-	NC_000002.12:g.27449513C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1406Glu	rs1037540059	missense variant	-	NC_000002.12:g.27449506A>T	gnomAD
IFT172	Q9UG01	p.Val1410Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27449377C>T	NCI-TCGA
IFT172	Q9UG01	p.Val1410Leu	rs777573615	missense variant	-	NC_000002.12:g.27449377C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1411Arg	rs769958831	missense variant	-	NC_000002.12:g.27449374C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1413Glu	rs748345321	missense variant	-	NC_000002.12:g.27449366A>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1417Val	rs1398890900	missense variant	-	NC_000002.12:g.27449355G>A	TOPMed
IFT172	Q9UG01	p.Asp1419Glu	rs755092127	missense variant	-	NC_000002.12:g.27449348G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1422Leu	rs900692701	missense variant	-	NC_000002.12:g.27449341C>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1423Gly	rs751629074	missense variant	-	NC_000002.12:g.27449337T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1425Asp	rs139560074	missense variant	-	NC_000002.12:g.27449331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln1426Arg	rs750779087	missense variant	-	NC_000002.12:g.27449328T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asp1428Glu	rs199502476	missense variant	-	NC_000002.12:g.27449321G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1429Arg	rs760361183	missense variant	-	NC_000002.12:g.27449319T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ile1431Ter	RCV000487111	frameshift	-	NC_000002.12:g.27449315dup	ClinVar
IFT172	Q9UG01	p.Ala1434Pro	rs1465201525	missense variant	-	NC_000002.12:g.27449305C>G	gnomAD
IFT172	Q9UG01	p.Thr1435Ile	COSM1019700	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449301G>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Lys1436Thr	rs377646246	missense variant	-	NC_000002.12:g.27449298T>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln1437Arg	rs773808458	missense variant	-	NC_000002.12:g.27449295T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr1439Ter	rs751078156	stop gained	-	NC_000002.12:g.27449026G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Lys1440Arg	rs765881268	missense variant	-	NC_000002.12:g.27449024T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Lys1440Asn	rs1177576131	missense variant	-	NC_000002.12:g.27449023C>A	gnomAD
IFT172	Q9UG01	p.Lys1444Arg	rs1468644862	missense variant	-	NC_000002.12:g.27449012T>C	gnomAD
IFT172	Q9UG01	p.Tyr1445Phe	rs762866105	missense variant	-	NC_000002.12:g.27449009T>A	ExAC,gnomAD
IFT172	Q9UG01	p.Val1446Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27449007C>T	NCI-TCGA
IFT172	Q9UG01	p.Ala1447Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27449004C>T	NCI-TCGA
IFT172	Q9UG01	p.Leu1448Phe	rs1488112490	missense variant	-	NC_000002.12:g.27448999C>G	gnomAD
IFT172	Q9UG01	p.Ala1450Val	rs765204846	missense variant	-	NC_000002.12:g.27448994G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Thr1451Ala	rs761701917	missense variant	-	NC_000002.12:g.27448992T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr1451Asn	rs776529440	missense variant	-	NC_000002.12:g.27448991G>T	ExAC,gnomAD
IFT172	Q9UG01	p.His1452Gln	rs370497725	missense variant	-	NC_000002.12:g.27448987G>C	ESP
IFT172	Q9UG01	p.Arg1455Trp	rs184506506	missense variant	-	NC_000002.12:g.27448980G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1455Gln	rs747215055	missense variant	-	NC_000002.12:g.27448979C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1456Lys	rs775476765	missense variant	-	NC_000002.12:g.27448977C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Glu1456Asp	rs772188107	missense variant	-	NC_000002.12:g.27448975C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1457Ser	rs779491564	missense variant	-	NC_000002.12:g.27448974C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1457Arg	rs779491564	missense variant	-	NC_000002.12:g.27448974C>G	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1457Asp	rs142312837	missense variant	-	NC_000002.12:g.27448973C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1458Gly	rs1390620197	missense variant	-	NC_000002.12:g.27448971T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1459Cys	rs1289915013	missense variant	-	NC_000002.12:g.27448967G>C	gnomAD
IFT172	Q9UG01	p.Gln1468Ter	rs1396579423	stop gained	-	NC_000002.12:g.27448941G>A	gnomAD
IFT172	Q9UG01	p.His1469Arg	rs754662548	missense variant	-	NC_000002.12:g.27448937T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Gly1470Arg	rs146047876	missense variant	-	NC_000002.12:g.27448935C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1471Val	rs1219587063	missense variant	-	NC_000002.12:g.27448931G>A	TOPMed
IFT172	Q9UG01	p.Ala1473Thr	rs749834823	missense variant	-	NC_000002.12:g.27448926C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Pro1475Arg	rs138264780	missense variant	-	NC_000002.12:g.27448919G>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn1477Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27447920G>T	NCI-TCGA
IFT172	Q9UG01	p.Asn1479Ser	rs757946737	missense variant	-	NC_000002.12:g.27447915T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1483SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27447902_27447903insACTGCAAGCTCCGCTTCCCGGGTTCA	NCI-TCGA
IFT172	Q9UG01	p.Arg1483Ser	COSM2157253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27447902C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Arg1483Lys	rs201356906	missense variant	-	NC_000002.12:g.27447903C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile1484Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27447900A>C	NCI-TCGA
IFT172	Q9UG01	p.Phe1485Leu	rs778545802	missense variant	-	NC_000002.12:g.27447896G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Asp1487His	rs371807689	missense variant	-	NC_000002.12:g.27447892C>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met1488Lys	rs1387732542	missense variant	-	NC_000002.12:g.27447888A>T	TOPMed
IFT172	Q9UG01	p.Met1488Ile	rs1396855176	missense variant	-	NC_000002.12:g.27447887C>T	gnomAD
IFT172	Q9UG01	p.Val1489Met	COSM4548401	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27447886C>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ser1490Arg	rs943300296	missense variant	-	NC_000002.12:g.27447881G>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1490Arg	rs943300296	missense variant	-	NC_000002.12:g.27447881G>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Pro1492Ala	rs753822760	missense variant	-	NC_000002.12:g.27447877G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asn1495Ser	rs760535770	missense variant	-	NC_000002.12:g.27447867T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Cys1496Tyr	rs149435148	missense variant	-	NC_000002.12:g.27447864C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys1496Phe	rs149435148	missense variant	-	NC_000002.12:g.27447864C>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1497Thr	rs759653536	missense variant	-	NC_000002.12:g.27447862C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1498Lys	rs557292146	missense variant	-	NC_000002.12:g.27447859C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr1500Cys	rs763505533	missense variant	-	NC_000002.12:g.27447852T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr1500Ter	rs1456462116	stop gained	-	NC_000002.12:g.27447851A>T	TOPMed,gnomAD
IFT172	Q9UG01	p.His1501Tyr	rs1043702763	missense variant	-	NC_000002.12:g.27447850G>A	TOPMed
IFT172	Q9UG01	p.Ser1502Cys	rs79517696	missense variant	-	NC_000002.12:g.27447847T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1504Val	rs1234365830	missense variant	-	NC_000002.12:g.27447840G>A	gnomAD
IFT172	Q9UG01	p.Leu1506Phe	rs770131441	missense variant	-	NC_000002.12:g.27447835G>A	ExAC
IFT172	Q9UG01	p.Arg1507Pro	rs781360062	missense variant	-	NC_000002.12:g.27447831C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1507Gln	rs781360062	missense variant	-	NC_000002.12:g.27447831C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1507Ter	rs150246251	stop gained	-	NC_000002.12:g.27447832G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1509Ile	rs1335960322	missense variant	-	NC_000002.12:g.27447826C>T	gnomAD
IFT172	Q9UG01	p.Leu1510Phe	rs771807883	missense variant	-	NC_000002.12:g.27447823G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Cys1514Trp	rs758565766	missense variant	-	NC_000002.12:g.27447632A>C	ExAC,gnomAD
IFT172	Q9UG01	p.Leu1517Pro	rs1474615185	missense variant	-	NC_000002.12:g.27447624A>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1522Lys	RCV000521349	missense variant	-	NC_000002.12:g.27447610C>T	ClinVar
IFT172	Q9UG01	p.Glu1522Lys	rs746340772	missense variant	-	NC_000002.12:g.27447610C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro1526Ala	rs762450548	missense variant	-	NC_000002.12:g.27447598G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ala1527Thr	rs993668309	missense variant	-	NC_000002.12:g.27447595C>T	TOPMed
IFT172	Q9UG01	p.His1528Arg	rs776991066	missense variant	-	NC_000002.12:g.27447591T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Glu1530Lys	rs764604255	missense variant	-	NC_000002.12:g.27447586C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Phe1531Leu	rs540171862	missense variant	-	NC_000002.12:g.27447581G>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Phe1531Leu	rs540171862	missense variant	-	NC_000002.12:g.27447581G>C	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1532Asn	rs1174455662	missense variant	-	NC_000002.12:g.27447578C>G	gnomAD
IFT172	Q9UG01	p.Thr1533Met	rs202181028	missense variant	-	NC_000002.12:g.27447576G>A	1000Genomes,ExAC,TOPMed
IFT172	Q9UG01	p.Leu1536Pro	rs587777080	missense variant	-	NC_000002.12:g.27447567A>G	-
IFT172	Q9UG01	p.Leu1536Pro	rs587777080	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447567A>G	UniProt,dbSNP
IFT172	Q9UG01	p.Leu1536Pro	VAR_070959	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447567A>G	UniProt
IFT172	Q9UG01	p.Leu1536Pro	RCV000083271	missense variant	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27447567A>G	ClinVar
IFT172	Q9UG01	p.Ala1538Thr	rs770733075	missense variant	-	NC_000002.12:g.27447562C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.His1539Tyr	rs748929714	missense variant	-	NC_000002.12:g.27447559G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr1541Cys	rs138003766	missense variant	-	NC_000002.12:g.27447552T>C	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr1543Met	RCV000435924	missense variant	-	NC_000002.12:g.27447546G>A	ClinVar
IFT172	Q9UG01	p.Thr1543Ala	rs769170592	missense variant	-	NC_000002.12:g.27447547T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr1543Met	rs571220836	missense variant	-	NC_000002.12:g.27447546G>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1544Cys	RCV000201713	missense variant	Joubert syndrome (JBTS)	NC_000002.12:g.27447544G>A	ClinVar
IFT172	Q9UG01	p.Arg1544Cys	RCV000083270	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447544G>A	ClinVar
IFT172	Q9UG01	p.Arg1544Cys	rs587777079	missense variant	-	NC_000002.12:g.27447544G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1544Cys	rs587777079	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447544G>A	UniProt,dbSNP
IFT172	Q9UG01	p.Arg1544Cys	VAR_070960	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447544G>A	UniProt
IFT172	Q9UG01	p.Arg1544His	rs751097060	missense variant	-	NC_000002.12:g.27447543C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1545Cys	rs1331200488	missense variant	-	NC_000002.12:g.27447540G>C	gnomAD
IFT172	Q9UG01	p.Ser1545Phe	COSM721415	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27447540G>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ser1545Pro	rs1276172175	missense variant	-	NC_000002.12:g.27447541A>G	gnomAD
IFT172	Q9UG01	p.Ala1546Val	rs1290255701	missense variant	-	NC_000002.12:g.27447537G>A	gnomAD
IFT172	Q9UG01	p.Ala1547Ser	rs1399361067	missense variant	-	NC_000002.12:g.27447535C>A	gnomAD
IFT172	Q9UG01	p.Gln1548His	rs746827700	missense variant	-	NC_000002.12:g.27447530C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1549Ile	rs1314510229	missense variant	-	NC_000002.12:g.27447528C>A	gnomAD
IFT172	Q9UG01	p.Val1550Phe	rs779801761	missense variant	-	NC_000002.12:g.27447526C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1551Thr	rs1300911313	missense variant	-	NC_000002.12:g.27447522T>G	TOPMed
IFT172	Q9UG01	p.Gln1552His	rs530107456	missense variant	-	NC_000002.12:g.27447518C>A	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1556Met	RCV000520966	missense variant	-	NC_000002.12:g.27446349C>T	ClinVar
IFT172	Q9UG01	p.Val1556Met	rs141098495	missense variant	-	NC_000002.12:g.27446349C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1557Thr	rs1413564897	missense variant	-	NC_000002.12:g.27446346C>T	gnomAD
IFT172	Q9UG01	p.Ala1558Val	rs757464563	missense variant	-	NC_000002.12:g.27446342G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1559Ser	rs777980611	missense variant	-	NC_000002.12:g.27446338C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1559Gly	COSM4826416	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27446340T>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ser1561Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27446333G>C	NCI-TCGA
IFT172	Q9UG01	p.Ser1561CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27446332_27446333AG>-	NCI-TCGA
IFT172	Q9UG01	p.Ser1561Pro	rs756728624	missense variant	-	NC_000002.12:g.27446334A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ser1563Ter	COSM6158116	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.27446327G>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Leu1565Trp	rs1320843711	missense variant	-	NC_000002.12:g.27446321A>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1566Cys	rs1307442302	missense variant	-	NC_000002.12:g.27446319G>A	gnomAD
IFT172	Q9UG01	p.Arg1566His	rs915032282	missense variant	-	NC_000002.12:g.27446318C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1566Gly	rs1307442302	missense variant	-	NC_000002.12:g.27446319G>C	gnomAD
IFT172	Q9UG01	p.His1567Gln	rs786205855	missense variant	-	NC_000002.12:g.27446314G>T	-
IFT172	Q9UG01	p.His1567Gln	RCV000171548	missense variant	Retinitis pigmentosa 71 (RP71)	NC_000002.12:g.27446314G>T	ClinVar
IFT172	Q9UG01	p.His1567Gln	COSM1019697	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27446314G>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Thr1568Ile	rs759979976	missense variant	-	NC_000002.12:g.27446312G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Gln1569His	rs1474681289	missense variant	-	NC_000002.12:g.27446308C>A	TOPMed
IFT172	Q9UG01	p.Gln1569Arg	rs1334160300	missense variant	-	NC_000002.12:g.27446309T>C	gnomAD
IFT172	Q9UG01	p.Pro1572CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27446301_27446302GT>-	NCI-TCGA
IFT172	Q9UG01	p.Pro1572Ser	rs1307170010	missense variant	-	NC_000002.12:g.27446301G>A	gnomAD
IFT172	Q9UG01	p.Asp1574Gly	COSM281864	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27446294T>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Tyr1578Phe	rs761504464	missense variant	-	NC_000002.12:g.27446282T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr1578Asp	rs764818890	missense variant	-	NC_000002.12:g.27446283A>C	ExAC,gnomAD
IFT172	Q9UG01	p.Tyr1578Cys	rs761504464	missense variant	-	NC_000002.12:g.27446282T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ile1582Thr	RCV000426896	missense variant	-	NC_000002.12:g.27446270A>G	ClinVar
IFT172	Q9UG01	p.Ile1582Thr	RCV000538712	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27446270A>G	ClinVar
IFT172	Q9UG01	p.Ile1582Thr	rs61742074	missense variant	-	NC_000002.12:g.27446270A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1583Val	rs1349603900	missense variant	-	NC_000002.12:g.27446267G>A	gnomAD
IFT172	Q9UG01	p.Ala1584Thr	rs1393218263	missense variant	-	NC_000002.12:g.27446265C>T	TOPMed
IFT172	Q9UG01	p.Lys1585CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.27446262_27446263insGGCA	NCI-TCGA
IFT172	Q9UG01	p.Val1587Ile	rs774941853	missense variant	-	NC_000002.12:g.27445985C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1587Ala	rs1483735124	missense variant	-	NC_000002.12:g.27445984A>G	gnomAD
IFT172	Q9UG01	p.Asp1590Tyr	rs772023412	missense variant	-	NC_000002.12:g.27445976C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Asn1591Ser	rs1279331887	missense variant	-	NC_000002.12:g.27445972T>C	gnomAD
IFT172	Q9UG01	p.Asn1591Asp	rs774056784	missense variant	-	NC_000002.12:g.27445973T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asn1591Lys	rs770759155	missense variant	-	NC_000002.12:g.27445971G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Met1592Ile	rs1042644207	missense variant	-	NC_000002.12:g.27445968C>T	gnomAD
IFT172	Q9UG01	p.Met1592Thr	rs773569919	missense variant	-	NC_000002.12:g.27445969A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Met1592Val	rs748974533	missense variant	-	NC_000002.12:g.27445970T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asn1598Ser	rs755477787	missense variant	-	NC_000002.12:g.27445951T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asn1598His	rs377200724	missense variant	-	NC_000002.12:g.27445952T>G	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Asn1598Asp	rs377200724	missense variant	-	NC_000002.12:g.27445952T>C	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Arg1599Cys	rs186020523	missense variant	-	NC_000002.12:g.27445949G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Phe1600Cys	COSM3426354	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27445945A>C	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Thr1604Ser	rs780339054	missense variant	-	NC_000002.12:g.27445934T>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr1604Ile	rs115716101	missense variant	-	NC_000002.12:g.27445933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1605Glu	RCV000171550	missense variant	Retinitis pigmentosa 71 (RP71)	NC_000002.12:g.27445929A>C	ClinVar
IFT172	Q9UG01	p.Asp1605Asn	rs755717990	missense variant	-	NC_000002.12:g.27445931C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1605Glu	rs786205856	missense variant	-	NC_000002.12:g.27445929A>C	-
IFT172	Q9UG01	p.Glu1608Lys	rs1372327110	missense variant	-	NC_000002.12:g.27445837C>T	TOPMed
IFT172	Q9UG01	p.Leu1612Pro	rs1008851256	missense variant	-	NC_000002.12:g.27445824A>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1613Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27445821T>C	NCI-TCGA
IFT172	Q9UG01	p.Asp1616Gly	rs754517347	missense variant	-	NC_000002.12:g.27445812T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Asp1622His	rs1324085455	missense variant	-	NC_000002.12:g.27445795C>G	gnomAD
IFT172	Q9UG01	p.Thr1623Ala	rs750991615	missense variant	-	NC_000002.12:g.27445792T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Thr1623Ile	rs762958757	missense variant	-	NC_000002.12:g.27445791G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Thr1623Lys	rs762958757	missense variant	-	NC_000002.12:g.27445791G>T	ExAC,gnomAD
IFT172	Q9UG01	p.Asp1624Tyr	COSM5788787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27445789C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Asp1624Gly	rs1162491276	missense variant	-	NC_000002.12:g.27445788T>C	gnomAD
IFT172	Q9UG01	p.Phe1627Ser	rs1438803947	missense variant	-	NC_000002.12:g.27445779A>G	TOPMed
IFT172	Q9UG01	p.Pro1632Leu	rs765119001	missense variant	-	NC_000002.12:g.27445764G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ala1633GlyTerLysAlaAlaGlySerIleAsnLeuIleLeuLeuGlyPheSerThr	rs752690255	stop gained	-	NC_000002.12:g.27445761_27445762insTACTGAATCCTAGTAAAATTAAGTTTATTGATCCTGCTGCTTTCTACC	ExAC
IFT172	Q9UG01	p.Ala1633Pro	rs201237891	missense variant	-	NC_000002.12:g.27445762C>G	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.His1636Gln	rs201840472	missense variant	-	NC_000002.12:g.27445751A>C	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1637Ile	rs571686284	missense variant	-	NC_000002.12:g.27445750C>T	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Pro1638Ser	rs866404849	missense variant	-	NC_000002.12:g.27445747G>A	gnomAD
IFT172	Q9UG01	p.Pro1638Leu	rs550224307	missense variant	-	NC_000002.12:g.27445746G>A	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Glu1641Lys	rs370504937	missense variant	-	NC_000002.12:g.27445443C>T	ESP,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1642Ter	RCV000083269	frameshift	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27445436_27445437TC[2]	ClinVar
IFT172	Q9UG01	p.Val1645Ala	rs753562959	missense variant	-	NC_000002.12:g.27445430A>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1645Ile	rs149117098	missense variant	-	NC_000002.12:g.27445431C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1646Gln	rs549415233	missense variant	-	NC_000002.12:g.27445427C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1646Ter	rs760097703	stop gained	-	NC_000002.12:g.27445428G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu1650Phe	rs1211824813	missense variant	-	NC_000002.12:g.27445416G>A	gnomAD
IFT172	Q9UG01	p.Thr1651Arg	rs771383720	missense variant	-	NC_000002.12:g.27445412G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Thr1651Ile	rs771383720	missense variant	-	NC_000002.12:g.27445412G>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ser1653Phe	rs377579450	missense variant	-	NC_000002.12:g.27445406G>A	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1653Tyr	rs377579450	missense variant	-	NC_000002.12:g.27445406G>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met1654Val	rs529850410	missense variant	-	NC_000002.12:g.27445404T>C	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Asp1655Gly	rs1320001121	missense variant	-	NC_000002.12:g.27445400T>C	gnomAD
IFT172	Q9UG01	p.Arg1657Gln	rs766353582	missense variant	-	NC_000002.12:g.27445394C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1657Trp	rs768391423	missense variant	-	NC_000002.12:g.27445395G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1659Gly	rs1284963138	missense variant	-	NC_000002.12:g.27445388T>C	gnomAD
IFT172	Q9UG01	p.Glu1659Gln	rs1488810130	missense variant	-	NC_000002.12:g.27445389C>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Gln1660Lys	COSM1326234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27445386G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Val1661Ile	rs779670290	missense variant	-	NC_000002.12:g.27445383C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1661Phe	rs779670290	missense variant	-	NC_000002.12:g.27445383C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro1663Leu	rs1357445568	missense variant	-	NC_000002.12:g.27445376G>A	gnomAD
IFT172	Q9UG01	p.Arg1664Gln	rs749884570	missense variant	-	NC_000002.12:g.27445373C>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1664Trp	rs139348179	missense variant	-	NC_000002.12:g.27445374G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1664Trp	RCV000653127	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27445374G>A	ClinVar
IFT172	Q9UG01	p.Glu1666Lys	rs373098915	missense variant	-	NC_000002.12:g.27445368C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1667His	rs201017771	missense variant	-	NC_000002.12:g.27445364C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Arg1667Cys	rs757212554	missense variant	-	NC_000002.12:g.27445365G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1669Thr	rs146575848	missense variant	-	NC_000002.12:g.27445359C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Tyr1670His	rs1241985045	missense variant	-	NC_000002.12:g.27445356A>G	gnomAD
IFT172	Q9UG01	p.Tyr1670Cys	rs1178759857	missense variant	-	NC_000002.12:g.27445355T>C	TOPMed,gnomAD
IFT172	Q9UG01	p.Glu1671Lys	rs1256025789	missense variant	-	NC_000002.12:g.27445353C>T	gnomAD
IFT172	Q9UG01	p.Ser1673Phe	rs767672341	missense variant	-	NC_000002.12:g.27445346G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu1674Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27445343A>G	NCI-TCGA
IFT172	Q9UG01	p.Leu1674Val	rs1322032604	missense variant	-	NC_000002.12:g.27445344G>C	gnomAD
IFT172	Q9UG01	p.Val1675Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27445341C>A	NCI-TCGA
IFT172	Q9UG01	p.Val1675Ala	rs774361785	missense variant	-	NC_000002.12:g.27445340A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ala1676Thr	rs1377324089	missense variant	-	NC_000002.12:g.27445338C>T	gnomAD
IFT172	Q9UG01	p.Ala1677Val	rs1280545536	missense variant	-	NC_000002.12:g.27445334G>A	TOPMed
IFT172	Q9UG01	p.Ala1677Ser	rs766918099	missense variant	-	NC_000002.12:g.27445335C>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1678Asn	rs972056548	missense variant	-	NC_000002.12:g.27445331C>T	gnomAD
IFT172	Q9UG01	p.Val1681Ile	rs763335302	missense variant	-	NC_000002.12:g.27445323C>T	ExAC
IFT172	Q9UG01	p.Arg1682Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27445319C>G	NCI-TCGA
IFT172	Q9UG01	p.Arg1682Gln	rs773691500	missense variant	-	NC_000002.12:g.27445319C>T	ExAC,gnomAD
IFT172	Q9UG01	p.Arg1682Ter	rs1329856696	stop gained	-	NC_000002.12:g.27445320G>A	gnomAD
IFT172	Q9UG01	p.Ala1683Thr	rs1202747297	missense variant	-	NC_000002.12:g.27445317C>T	TOPMed
IFT172	Q9UG01	p.Leu1684Met	COSM1407461	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27445314G>T	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Leu1684Arg	rs770040628	missense variant	-	NC_000002.12:g.27445313A>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Pro1685Ser	rs775285304	missense variant	-	NC_000002.12:g.27445311G>A	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu1687Phe	rs917873749	missense variant	-	NC_000002.12:g.27445305G>A	TOPMed
IFT172	Q9UG01	p.Ile1688Thr	rs1393819519	missense variant	-	NC_000002.12:g.27445301A>G	TOPMed
IFT172	Q9UG01	p.Gly1690Arg	rs200049734	missense variant	-	NC_000002.12:g.27445296C>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gly1690Ala	rs1433666682	missense variant	-	NC_000002.12:g.27445105C>G	gnomAD
IFT172	Q9UG01	p.Tyr1691His	rs1189419094	missense variant	-	NC_000002.12:g.27445103A>G	gnomAD
IFT172	Q9UG01	p.Pro1692Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27445099G>A	NCI-TCGA
IFT172	Q9UG01	p.Leu1694Val	rs765709301	missense variant	-	NC_000002.12:g.27445094G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Ile1698Thr	rs762114339	missense variant	-	NC_000002.12:g.27445081A>G	ExAC,gnomAD
IFT172	Q9UG01	p.Arg1702Trp	rs560831644	missense variant	-	NC_000002.12:g.27445070G>A	1000Genomes,ExAC,gnomAD
IFT172	Q9UG01	p.Arg1702Gln	rs775719395	missense variant	-	NC_000002.12:g.27445069C>T	gnomAD
IFT172	Q9UG01	p.Gly1704Glu	rs1278666017	missense variant	-	NC_000002.12:g.27445063C>T	TOPMed
IFT172	Q9UG01	p.Ala1706Thr	rs375081229	missense variant	-	NC_000002.12:g.27445058C>T	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Ala1707Val	rs1220735933	missense variant	-	NC_000002.12:g.27445054G>A	TOPMed
IFT172	Q9UG01	p.Asn1708Lys	rs868748622	missense variant	-	NC_000002.12:g.27445050G>T	TOPMed
IFT172	Q9UG01	p.Asp1710Asn	rs542662514	missense variant	-	NC_000002.12:g.27445046C>T	1000Genomes,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn1711Ser	rs774073874	missense variant	-	NC_000002.12:g.27445042T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Trp1712Ter	RCV000207390	frameshift	-	NC_000002.12:g.27445041del	ClinVar
IFT172	Q9UG01	p.Asn1713Asp	rs770335799	missense variant	-	NC_000002.12:g.27445037T>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asn1713Ser	rs748778867	missense variant	-	NC_000002.12:g.27445036T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Phe1715Leu	rs373184496	missense variant	-	NC_000002.12:g.27445031A>G	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Leu1716Pro	rs747938088	missense variant	-	NC_000002.12:g.27445027A>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Leu1716Arg	rs747938088	missense variant	-	NC_000002.12:g.27445027A>C	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Met1717Thr	rs1264437308	missense variant	-	NC_000002.12:g.27445024A>G	TOPMed
IFT172	Q9UG01	p.Met1717Leu	rs146309780	missense variant	-	NC_000002.12:g.27445025T>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Lys1720Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27445014C>A	NCI-TCGA
IFT172	Q9UG01	p.Lys1720Thr	rs755256585	missense variant	-	NC_000002.12:g.27445015T>G	ExAC,gnomAD
IFT172	Q9UG01	p.Ser1724Ile	rs764640478	missense variant	-	NC_000002.12:g.27444511C>A	ExAC,gnomAD
IFT172	Q9UG01	p.Ser1724Arg	rs148800421	missense variant	-	NC_000002.12:g.27444512T>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Val1726Leu	rs1451217519	missense variant	-	NC_000002.12:g.27444506C>G	TOPMed,gnomAD
IFT172	Q9UG01	p.Cys1727Arg	rs149614625	missense variant	-	NC_000002.12:g.27444503A>G	ESP,ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Cys1727Arg	RCV000083268	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27444503A>G	ClinVar
IFT172	Q9UG01	p.Gln1728Lys	rs753075654	missense variant	-	NC_000002.12:g.27444500G>T	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Asp1729Gly	rs765993455	missense variant	-	NC_000002.12:g.27444496T>C	ExAC,gnomAD
IFT172	Q9UG01	p.Val1730Leu	rs985755052	missense variant	-	NC_000002.12:g.27444494C>A	TOPMed,gnomAD
IFT172	Q9UG01	p.Val1730Met	rs985755052	missense variant	-	NC_000002.12:g.27444494C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Leu1731Met	rs879266526	missense variant	-	NC_000002.12:g.27444491G>T	TOPMed
IFT172	Q9UG01	p.Lys1732Asn	rs1387363654	missense variant	-	NC_000002.12:g.27444486T>A	gnomAD
IFT172	Q9UG01	p.Phe1733Leu	rs1161932262	missense variant	-	NC_000002.12:g.27444483G>T	gnomAD
IFT172	Q9UG01	p.Ser1735Asn	rs1238875084	missense variant	-	NC_000002.12:g.27444478C>T	TOPMed,gnomAD
IFT172	Q9UG01	p.Ser1735Gly	rs1444047678	missense variant	-	NC_000002.12:g.27444479T>C	gnomAD
IFT172	Q9UG01	p.Gln1736Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.27444475T>C	NCI-TCGA
IFT172	Q9UG01	p.Trp1737Cys	rs1471965612	missense variant	-	NC_000002.12:g.27444471C>G	TOPMed
IFT172	Q9UG01	p.Pro1742Leu	rs267599318	missense variant	-	NC_000002.12:g.27444457G>A	gnomAD
IFT172	Q9UG01	p.Ser1743Arg	rs375519807	missense variant	-	NC_000002.12:g.27444453G>T	ESP,ExAC,gnomAD
IFT172	Q9UG01	p.Ser1745Asn	rs1414678869	missense variant	-	NC_000002.12:g.27444448C>T	TOPMed
IFT172	Q9UG01	p.Ser1745Arg	rs761254391	missense variant	-	NC_000002.12:g.27444447G>C	ExAC,gnomAD
IFT172	Q9UG01	p.Phe1746Leu	rs953161312	missense variant	-	NC_000002.12:g.27444446A>G	gnomAD
IFT172	Q9UG01	p.Ser1747Ala	rs1258203154	missense variant	-	NC_000002.12:g.27444443A>C	gnomAD
IFT172	Q9UG01	p.Gln1749His	rs776552648	missense variant	-	NC_000002.12:g.27444435C>G	ExAC,TOPMed,gnomAD
IFT172	Q9UG01	p.Gln1749His	COSM442747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27444435C>A	NCI-TCGA Cosmic
IFT172	Q9UG01	p.Ter1750Gln	rs768540015	stop lost	-	NC_000002.12:g.27444434A>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Tyr2Ser	rs1163385753	missense variant	-	NC_000011.10:g.3811264A>C	gnomAD
PGAP2	Q9UHJ9	p.Tyr2His	rs758096630	missense variant	-	NC_000011.10:g.3811263T>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Tyr2Asn	rs758096630	missense variant	-	NC_000011.10:g.3811263T>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Gln3Arg	rs746651066	missense variant	-	NC_000011.10:g.3811267A>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Gln3His	rs770386630	missense variant	-	NC_000011.10:g.3811268G>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Val4Ile	rs575001378	missense variant	-	NC_000011.10:g.3811269G>A	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Pro5Leu	rs1412514761	missense variant	-	NC_000011.10:g.3811273C>T	TOPMed
PGAP2	Q9UHJ9	p.Pro7Ser	rs201888053	missense variant	-	NC_000011.10:g.3811278C>T	gnomAD
PGAP2	Q9UHJ9	p.Arg10Trp	rs181958368	missense variant	-	NC_000011.10:g.3811287C>T	1000Genomes,gnomAD
PGAP2	Q9UHJ9	p.Arg10Gln	rs774704416	missense variant	-	NC_000011.10:g.3811288G>A	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg10Gly	rs181958368	missense variant	-	NC_000011.10:g.3811287C>G	1000Genomes,gnomAD
PGAP2	Q9UHJ9	p.Arg16Trp	rs773359554	missense variant	-	NC_000011.10:g.3811305C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg16Trp	rs773359554	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3811305C>T	UniProt,dbSNP
PGAP2	Q9UHJ9	p.Arg16Trp	VAR_069664	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3811305C>T	UniProt
PGAP2	Q9UHJ9	p.Arg16Gln	rs144780584	missense variant	-	NC_000011.10:g.3811306G>A	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg18Cys	rs200164387	missense variant	-	NC_000011.10:g.3811311C>T	1000Genomes,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg18His	rs753908644	missense variant	-	NC_000011.10:g.3811312G>A	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Thr20Ile	COSM3447178	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.3811318C>T	NCI-TCGA Cosmic
PGAP2	Q9UHJ9	p.Met21Val	rs551501269	missense variant	-	NC_000011.10:g.3811320A>G	1000Genomes,ExAC,gnomAD
PGAP2	Q9UHJ9	p.Met21Thr	rs1258435874	missense variant	-	NC_000011.10:g.3811321T>C	TOPMed
PGAP2	Q9UHJ9	p.Val27Ile	rs151300350	missense variant	-	NC_000011.10:g.3811338G>A	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Leu31Val	rs566540096	missense variant	-	NC_000011.10:g.3811350C>G	1000Genomes,ExAC,gnomAD
PGAP2	Q9UHJ9	p.Val32Phe	rs140588348	missense variant	-	NC_000011.10:g.3811353G>T	ESP,ExAC,gnomAD
PGAP2	Q9UHJ9	p.Val32Ala	rs780695725	missense variant	-	NC_000011.10:g.3811354T>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Phe34Tyr	rs745318258	missense variant	-	NC_000011.10:g.3811360T>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Leu39Phe	rs748670560	missense variant	-	NC_000011.10:g.3811374C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Trp40Ter	rs376934151	stop gained	-	NC_000011.10:g.3811378G>A	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Leu42Pro	rs1310988445	missense variant	-	NC_000011.10:g.3811384T>C	TOPMed
PGAP2	Q9UHJ9	p.Leu42Gln	rs1310988445	missense variant	-	NC_000011.10:g.3811384T>A	TOPMed
PGAP2	Q9UHJ9	p.Leu43Phe	rs1276892945	missense variant	-	NC_000011.10:g.3811386C>T	gnomAD
PGAP2	Q9UHJ9	p.Lys47Asn	rs1263281067	missense variant	-	NC_000011.10:g.3811400G>T	gnomAD
PGAP2	Q9UHJ9	p.Thr49Ile	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3811405C>T	NCI-TCGA
PGAP2	Q9UHJ9	p.Thr49Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3811404A>G	NCI-TCGA
PGAP2	Q9UHJ9	p.Thr50Met	rs760866870	missense variant	-	NC_000011.10:g.3811408C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Thr52Lys	rs1416247677	missense variant	-	NC_000011.10:g.3811414C>A	TOPMed
PGAP2	Q9UHJ9	p.Asn58Ser	rs1162652415	missense variant	-	NC_000011.10:g.3823890A>G	gnomAD
PGAP2	Q9UHJ9	p.Pro61Leu	rs1395853662	missense variant	-	NC_000011.10:g.3823899C>T	gnomAD
PGAP2	Q9UHJ9	p.Ser62Leu	rs753713581	missense variant	-	NC_000011.10:g.3823902C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ser64Asn	rs1245756175	missense variant	-	NC_000011.10:g.3823908G>A	gnomAD
PGAP2	Q9UHJ9	p.Ser64Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3823907A>G	NCI-TCGA
PGAP2	Q9UHJ9	p.Ala66Gly	rs752346360	missense variant	-	NC_000011.10:g.3823914C>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ala66Val	rs752346360	missense variant	-	NC_000011.10:g.3823914C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ala66Thr	rs1322012443	missense variant	-	NC_000011.10:g.3823913G>A	gnomAD
PGAP2	Q9UHJ9	p.Gly68Ser	rs200492831	missense variant	-	NC_000011.10:g.3823919G>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Gly69Arg	rs770306400	missense variant	-	NC_000011.10:g.3823922G>C	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Gly69Arg	rs770306400	missense variant	-	NC_000011.10:g.3823922G>A	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Glu70Gly	rs533117826	missense variant	-	NC_000011.10:g.3823926A>G	1000Genomes,ExAC,gnomAD
PGAP2	Q9UHJ9	p.Val71Gly	rs551147697	missense variant	-	NC_000011.10:g.3823929T>G	1000Genomes,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Pro72Ala	rs768968302	missense variant	-	NC_000011.10:g.3823931C>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Arg74His	rs142043517	missense variant	-	NC_000011.10:g.3823938G>A	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg74Cys	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3823937C>T	NCI-TCGA
PGAP2	Q9UHJ9	p.Tyr75Phe	rs1425843156	missense variant	-	NC_000011.10:g.3823941A>T	TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Tyr75His	rs1466915285	missense variant	-	NC_000011.10:g.3823940T>C	gnomAD
PGAP2	Q9UHJ9	p.Val76Met	rs1004641277	missense variant	-	NC_000011.10:g.3823943G>A	gnomAD
PGAP2	Q9UHJ9	p.Arg78Cys	rs772273646	missense variant	-	NC_000011.10:g.3823949C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Arg78His	rs1333415465	missense variant	-	NC_000011.10:g.3823950G>A	TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Cys80Ser	rs143536266	missense variant	-	NC_000011.10:g.3823955T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Ile81Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3823959T>G	NCI-TCGA
PGAP2	Q9UHJ9	p.Gly82ProPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.3823961_3823962GG>-	NCI-TCGA
PGAP2	Q9UHJ9	p.Gly82Ser	rs1337881496	missense variant	-	NC_000011.10:g.3823961G>A	TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Leu83Val	rs370582493	missense variant	-	NC_000011.10:g.3823964C>G	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Ser85Trp	rs752467302	missense variant	-	NC_000011.10:g.3823971C>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ser85Leu	rs752467302	missense variant	-	NC_000011.10:g.3823971C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ser85Ala	rs764951853	missense variant	-	NC_000011.10:g.3823970T>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ala86Val	rs751191276	missense variant	-	NC_000011.10:g.3823974C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg88Cys	rs963222879	missense variant	-	NC_000011.10:g.3823979C>T	TOPMed
PGAP2	Q9UHJ9	p.Phe89Leu	rs1184521774	missense variant	-	NC_000011.10:g.3823984C>G	gnomAD
PGAP2	Q9UHJ9	p.Ala92Thr	rs148038526	missense variant	-	NC_000011.10:g.3823991G>A	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Phe93Ile	rs1303011695	missense variant	-	NC_000011.10:g.3823994T>A	TOPMed
PGAP2	Q9UHJ9	p.Ala94Val	rs748507360	missense variant	-	NC_000011.10:g.3823998C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ala94Thr	rs1467315949	missense variant	-	NC_000011.10:g.3823997G>A	TOPMed
PGAP2	Q9UHJ9	p.Asn97Lys	rs772209725	missense variant	-	NC_000011.10:g.3824008C>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Tyr99Cys	rs879255232	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3824013A>G	UniProt,dbSNP
PGAP2	Q9UHJ9	p.Tyr99Cys	VAR_069665	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3824013A>G	UniProt
PGAP2	Q9UHJ9	p.Tyr99Cys	rs879255232	missense variant	-	NC_000011.10:g.3824013A>G	-
PGAP2	Q9UHJ9	p.Leu100Phe	rs141753374	missense variant	-	NC_000011.10:g.3824015C>T	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Thr103Ile	rs587776970	missense variant	-	NC_000011.10:g.3824025C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Pro105Leu	rs759393903	missense variant	-	NC_000011.10:g.3824031C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Cys108Tyr	rs548872160	missense variant	-	NC_000011.10:g.3824040G>A	1000Genomes,ExAC,gnomAD
PGAP2	Q9UHJ9	p.Tyr109Cys	rs185342002	missense variant	-	NC_000011.10:g.3824043A>G	1000Genomes,ESP,ExAC,gnomAD
PGAP2	Q9UHJ9	p.Arg110Cys	rs1313853886	missense variant	-	NC_000011.10:g.3824045C>T	gnomAD
PGAP2	Q9UHJ9	p.Arg110His	rs1213447790	missense variant	-	NC_000011.10:g.3824046G>A	gnomAD
PGAP2	Q9UHJ9	p.Pro111Leu	rs751279371	missense variant	-	NC_000011.10:g.3824049C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Pro111Ser	rs763765483	missense variant	-	NC_000011.10:g.3824048C>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Leu112Phe	rs1422966266	missense variant	-	NC_000011.10:g.3824051C>T	TOPMed
PGAP2	Q9UHJ9	p.Leu112Pro	rs749871085	missense variant	-	NC_000011.10:g.3824052T>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Arg114Cys	rs755472726	missense variant	-	NC_000011.10:g.3824057C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg114His	rs150583814	missense variant	-	NC_000011.10:g.3824058G>A	ESP,ExAC,gnomAD
PGAP2	Q9UHJ9	p.Arg114Gly	rs755472726	missense variant	-	NC_000011.10:g.3824057C>G	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Asn116Ser	rs377757894	missense variant	-	NC_000011.10:g.3824064A>G	ESP,gnomAD
PGAP2	Q9UHJ9	p.Asn116Ile	rs377757894	missense variant	-	NC_000011.10:g.3824064A>T	ESP,gnomAD
PGAP2	Q9UHJ9	p.Phe117Leu	rs748585688	missense variant	-	NC_000011.10:g.3824066T>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Gly118Arg	rs201471637	missense variant	-	NC_000011.10:g.3824069G>C	1000Genomes,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Gly118Ser	rs201471637	missense variant	-	NC_000011.10:g.3824069G>A	1000Genomes,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Asn120Ser	rs780574277	missense variant	-	NC_000011.10:g.3824076A>G	TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Val121Ile	rs146962851	missense variant	-	NC_000011.10:g.3824078G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Val122Met	rs371241993	missense variant	-	NC_000011.10:g.3824081G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Glu123Lys	rs771209213	missense variant	-	NC_000011.10:g.3824084G>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Asn124Lys	rs1343214533	missense variant	-	NC_000011.10:g.3824089C>A	TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Ala126Thr	rs1274907993	missense variant	-	NC_000011.10:g.3824093G>A	gnomAD
PGAP2	Q9UHJ9	p.Ala126Val	rs375763335	missense variant	-	NC_000011.10:g.3824094C>T	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Leu127Ser	rs879255233	missense variant	-	NC_000011.10:g.3824097T>C	-
PGAP2	Q9UHJ9	p.Leu127Ser	rs879255233	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3824097T>C	UniProt,dbSNP
PGAP2	Q9UHJ9	p.Leu127Ser	VAR_069666	missense variant	Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3)	NC_000011.10:g.3824097T>C	UniProt
PGAP2	Q9UHJ9	p.Val129Met	rs932942171	missense variant	-	NC_000011.10:g.3824102G>A	TOPMed
PGAP2	Q9UHJ9	p.Thr131Ile	rs142694334	missense variant	-	NC_000011.10:g.3824109C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Ser135Pro	rs1490238365	missense variant	-	NC_000011.10:g.3824120T>C	gnomAD
PGAP2	Q9UHJ9	p.Glu137Asp	rs761460587	missense variant	-	NC_000011.10:g.3824128G>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Glu137Gln	COSM1146712	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.3824126G>C	NCI-TCGA Cosmic
PGAP2	Q9UHJ9	p.Glu137Lys	rs1469110249	missense variant	-	NC_000011.10:g.3824126G>A	gnomAD
PGAP2	Q9UHJ9	p.Ile141Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3824272A>G	NCI-TCGA
PGAP2	Q9UHJ9	p.Glu143Lys	rs139509051	missense variant	-	NC_000011.10:g.3824278G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Asn144Lys	rs544741456	missense variant	-	NC_000011.10:g.3824283T>A	1000Genomes,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Asn144His	rs1218148027	missense variant	-	NC_000011.10:g.3824281A>C	gnomAD
PGAP2	Q9UHJ9	p.Val148Ala	rs763583012	missense variant	-	NC_000011.10:g.3824294T>C	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Ser153Tyr	rs145152257	missense variant	-	NC_000011.10:g.3824309C>A	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Gly155Arg	rs1064797152	missense variant	-	NC_000011.10:g.3824314G>A	TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Gly155Arg	RCV000488144	missense variant	-	NC_000011.10:g.3824314G>A	ClinVar
PGAP2	Q9UHJ9	p.His156Tyr	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3824317C>T	NCI-TCGA
PGAP2	Q9UHJ9	p.His156Gln	rs781686732	missense variant	-	NC_000011.10:g.3824319C>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Met157Val	rs1303247220	missense variant	-	NC_000011.10:g.3824320A>G	TOPMed
PGAP2	Q9UHJ9	p.Leu158Phe	rs527484411	missense variant	-	NC_000011.10:g.3824323C>T	1000Genomes
PGAP2	Q9UHJ9	p.Thr160LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.3824328_3824329CA>-	NCI-TCGA
PGAP2	Q9UHJ9	p.Thr160Ile	rs780188037	missense variant	-	NC_000011.10:g.3824330C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Leu163Ile	rs1466667957	missense variant	-	NC_000011.10:g.3824338C>A	gnomAD
PGAP2	Q9UHJ9	p.Arg165Gln	rs768605321	missense variant	-	NC_000011.10:g.3824345G>A	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg165Trp	rs144767060	missense variant	-	NC_000011.10:g.3824344C>T	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Lys169Asn	rs1335916374	missense variant	-	NC_000011.10:g.3824358G>T	gnomAD
PGAP2	Q9UHJ9	p.Gln174Arg	rs1324968784	missense variant	-	NC_000011.10:g.3824372A>G	TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Gln174Glu	rs1466558742	missense variant	-	NC_000011.10:g.3824371C>G	TOPMed
PGAP2	Q9UHJ9	p.Arg177Cys	RCV000428475	missense variant	-	NC_000011.10:g.3825023C>T	ClinVar
PGAP2	Q9UHJ9	p.Arg177Leu	rs774843232	missense variant	-	NC_000011.10:g.3825024G>T	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Arg177His	rs774843232	missense variant	-	NC_000011.10:g.3825024G>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Arg177Cys	rs117338939	missense variant	-	NC_000011.10:g.3825023C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg177Pro	rs774843232	missense variant	-	NC_000011.10:g.3825024G>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ser179Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825029T>G	NCI-TCGA
PGAP2	Q9UHJ9	p.Ser179Phe	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825030C>T	NCI-TCGA
PGAP2	Q9UHJ9	p.Ser181Arg	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825035A>C	NCI-TCGA
PGAP2	Q9UHJ9	p.Ser181Thr	rs148137953	missense variant	-	NC_000011.10:g.3825036G>C	1000Genomes,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Trp182Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825039G>T	NCI-TCGA
PGAP2	Q9UHJ9	p.Gln184Ter	RCV000624517	frameshift	Inborn genetic diseases	NC_000011.10:g.3825043dup	ClinVar
PGAP2	Q9UHJ9	p.Gln184Glu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825044C>G	NCI-TCGA
PGAP2	Q9UHJ9	p.Arg185Trp	rs543741663	missense variant	-	NC_000011.10:g.3825047C>T	1000Genomes,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg185Gln	rs745521288	missense variant	-	NC_000011.10:g.3825048G>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ile188Val	rs775162032	missense variant	-	NC_000011.10:g.3825056A>G	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Phe191Ser	rs768180527	missense variant	-	NC_000011.10:g.3825066T>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Phe194Ser	rs773639534	missense variant	-	NC_000011.10:g.3825075T>C	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Ser196Thr	rs761228495	missense variant	-	NC_000011.10:g.3825080T>A	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Ser196Leu	rs766716423	missense variant	-	NC_000011.10:g.3825081C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Ala197Val	rs1045801313	missense variant	-	NC_000011.10:g.3825084C>T	TOPMed
PGAP2	Q9UHJ9	p.Ala199Thr	rs1191139426	missense variant	-	NC_000011.10:g.3825089G>A	TOPMed
PGAP2	Q9UHJ9	p.Ala199Asp	COSM1585762	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.3825090C>A	NCI-TCGA Cosmic
PGAP2	Q9UHJ9	p.Ala199Gly	rs1469181658	missense variant	-	NC_000011.10:g.3825090C>G	TOPMed
PGAP2	Q9UHJ9	p.Val200Ala	rs927721768	missense variant	-	NC_000011.10:g.3825093T>C	TOPMed
PGAP2	Q9UHJ9	p.Val200Ile	rs1181024089	missense variant	-	NC_000011.10:g.3825092G>A	gnomAD
PGAP2	Q9UHJ9	p.Tyr201His	rs759780867	missense variant	-	NC_000011.10:g.3825095T>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Arg203Gln	rs752888891	missense variant	-	NC_000011.10:g.3825102G>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Arg203Trp	rs765407513	missense variant	-	NC_000011.10:g.3825101C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Asn205Thr	rs762995369	missense variant	-	NC_000011.10:g.3825108A>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Asn205Ser	rs762995369	missense variant	-	NC_000011.10:g.3825108A>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Met206Val	rs1173487235	missense variant	-	NC_000011.10:g.3825110A>G	gnomAD
PGAP2	Q9UHJ9	p.Met206Thr	rs1404495392	missense variant	-	NC_000011.10:g.3825111T>C	gnomAD
PGAP2	Q9UHJ9	p.Ala210Ser	rs1465890582	missense variant	-	NC_000011.10:g.3825122G>T	TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Val212Ala	rs751601204	missense variant	-	NC_000011.10:g.3825328T>C	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Thr214Ser	rs1384204990	missense variant	-	NC_000011.10:g.3825333A>T	TOPMed
PGAP2	Q9UHJ9	p.Ala217Val	rs1488729576	missense variant	-	NC_000011.10:g.3825343C>T	gnomAD
PGAP2	Q9UHJ9	p.Ile218Leu	rs1218967500	missense variant	-	NC_000011.10:g.3825345A>C	gnomAD
PGAP2	Q9UHJ9	p.Leu219Pro	rs1245054256	missense variant	-	NC_000011.10:g.3825349T>C	gnomAD
PGAP2	Q9UHJ9	p.Tyr221His	rs1477702737	missense variant	-	NC_000011.10:g.3825354T>C	gnomAD
PGAP2	Q9UHJ9	p.Thr222Pro	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825357A>C	NCI-TCGA
PGAP2	Q9UHJ9	p.Val223Ile	rs761678849	missense variant	-	NC_000011.10:g.3825360G>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Val223Leu	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825360G>C	NCI-TCGA
PGAP2	Q9UHJ9	p.Val223CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000011.10:g.3825358_3825359insT	NCI-TCGA
PGAP2	Q9UHJ9	p.Met228Val	rs779980198	missense variant	-	NC_000011.10:g.3825375A>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Ala229Val	RCV000622885	missense variant	Inborn genetic diseases	NC_000011.10:g.3825379C>T	ClinVar
PGAP2	Q9UHJ9	p.Ala229Val	rs753497329	missense variant	-	NC_000011.10:g.3825379C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Met232Val	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825387A>G	NCI-TCGA
PGAP2	Q9UHJ9	p.Thr233Met	rs747658866	missense variant	-	NC_000011.10:g.3825391C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Trp235Cys	rs374521929	missense variant	-	NC_000011.10:g.3825398G>C	ESP,ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Trp236Ter	rs746363557	stop gained	-	NC_000011.10:g.3825400G>A	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Asp237Gly	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825403A>G	NCI-TCGA
PGAP2	Q9UHJ9	p.Asp237Asn	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825402G>A	NCI-TCGA
PGAP2	Q9UHJ9	p.Asp237Ala	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825403A>C	NCI-TCGA
PGAP2	Q9UHJ9	p.Phe238Ser	NCI-TCGA novel	missense variant	-	NC_000011.10:g.3825406T>C	NCI-TCGA
PGAP2	Q9UHJ9	p.Phe238Tyr	rs1045751090	missense variant	-	NC_000011.10:g.3825406T>A	TOPMed
PGAP2	Q9UHJ9	p.Gly239Trp	rs763097908	missense variant	-	NC_000011.10:g.3825408G>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Gly239Arg	rs763097908	missense variant	-	NC_000011.10:g.3825408G>A	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Asn240Lys	rs768873816	missense variant	-	NC_000011.10:g.3825413C>A	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Lys241Arg	rs1192869508	missense variant	-	NC_000011.10:g.3825415A>G	gnomAD
PGAP2	Q9UHJ9	p.Leu243Val	rs1451129270	missense variant	-	NC_000011.10:g.3825420C>G	gnomAD
PGAP2	Q9UHJ9	p.Thr246Ser	rs758632618	missense variant	-	NC_000011.10:g.3825429A>T	gnomAD
PGAP2	Q9UHJ9	p.Ser247Pro	rs1338504388	missense variant	-	NC_000011.10:g.3825432T>C	TOPMed
PGAP2	Q9UHJ9	p.Gln248His	rs1178472216	missense variant	-	NC_000011.10:g.3825437G>T	gnomAD
PGAP2	Q9UHJ9	p.Lys252Arg	rs761992792	missense variant	-	NC_000011.10:g.3825448A>G	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Lys252Met	rs761992792	missense variant	-	NC_000011.10:g.3825448A>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg253Gln	rs773338737	missense variant	-	NC_000011.10:g.3825451G>A	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg253Pro	rs773338737	missense variant	-	NC_000011.10:g.3825451G>C	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Arg253Ter	rs767681092	stop gained	-	NC_000011.10:g.3825450C>T	ExAC,TOPMed,gnomAD
PGAP2	Q9UHJ9	p.Phe254Leu	rs753607239	missense variant	-	NC_000011.10:g.3825455C>G	ExAC,gnomAD
PGAP2	Q9UHJ9	p.Phe254Leu	rs766278758	missense variant	-	NC_000011.10:g.3825453T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Met1Unk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.60724074T>-	NCI-TCGA
SIX4	Q9UIU6	p.Ser2Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60724070G>C	NCI-TCGA
SIX4	Q9UIU6	p.Ser3Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60724067G>C	NCI-TCGA
SIX4	Q9UIU6	p.Ser4Phe	rs1403371103	missense variant	-	NC_000014.9:g.60724064G>A	gnomAD
SIX4	Q9UIU6	p.Ser4Pro	rs766347851	missense variant	-	NC_000014.9:g.60724065A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser5Phe	rs763116949	missense variant	-	NC_000014.9:g.60724061G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro6Leu	rs773554042	missense variant	-	NC_000014.9:g.60724058G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly8Arg	rs1441666322	missense variant	-	NC_000014.9:g.60724053C>T	gnomAD
SIX4	Q9UIU6	p.Ala11Ser	rs1231210646	missense variant	-	NC_000014.9:g.60724044C>A	gnomAD
SIX4	Q9UIU6	p.Ser12LysPheSerTerUnkUnkUnk	COSM956754	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60724040_60724041insT	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Ala13Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60724037G>A	NCI-TCGA
SIX4	Q9UIU6	p.Ala14Glu	rs1442875808	missense variant	-	NC_000014.9:g.60724034G>T	gnomAD
SIX4	Q9UIU6	p.Ala14Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60724035C>T	NCI-TCGA
SIX4	Q9UIU6	p.Ile16Val	rs1208552609	missense variant	-	NC_000014.9:g.60724029T>C	gnomAD
SIX4	Q9UIU6	p.Ile16Thr	rs139989371	missense variant	-	NC_000014.9:g.60724028A>G	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ile16Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60724027G>C	NCI-TCGA
SIX4	Q9UIU6	p.Glu19Asp	rs778647376	missense variant	-	NC_000014.9:g.60724018C>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu19Asp	rs778647376	missense variant	-	NC_000014.9:g.60724018C>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu19Ter	COSM956753	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60724020C>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Glu19Gln	COSM416647	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60724020C>G	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Gly21Glu	rs1370565083	missense variant	-	NC_000014.9:g.60724013C>T	gnomAD
SIX4	Q9UIU6	p.Glu23Lys	COSM3496674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60724008C>T	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Glu23Gln	VAR_036441	Missense	-	-	UniProt
SIX4	Q9UIU6	p.Ser24Arg	rs1442119471	missense variant	-	NC_000014.9:g.60724003G>T	gnomAD
SIX4	Q9UIU6	p.Ser24Thr	rs770304830	missense variant	-	NC_000014.9:g.60724004C>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly28Arg	rs1449837653	missense variant	-	NC_000014.9:g.60723993C>T	TOPMed
SIX4	Q9UIU6	p.Gly28Glu	rs777517525	missense variant	-	NC_000014.9:g.60723992C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu30Asp	rs1375185620	missense variant	-	NC_000014.9:g.60723985C>A	gnomAD
SIX4	Q9UIU6	p.His32Arg	rs1248352358	missense variant	-	NC_000014.9:g.60723980T>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.His32Gln	rs1478647758	missense variant	-	NC_000014.9:g.60723979G>C	TOPMed
SIX4	Q9UIU6	p.Arg33Gln	rs370632624	missense variant	-	NC_000014.9:g.60723977C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg33Pro	rs370632624	missense variant	-	NC_000014.9:g.60723977C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala36Val	rs780934669	missense variant	-	NC_000014.9:g.60723968G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly37Arg	rs572307917	missense variant	-	NC_000014.9:g.60723966C>G	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Gly38Val	rs751733616	missense variant	-	NC_000014.9:g.60723962C>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala39Thr	rs1473164781	missense variant	-	NC_000014.9:g.60723960C>T	gnomAD
SIX4	Q9UIU6	p.Ala40Val	rs1485247127	missense variant	-	NC_000014.9:g.60723956G>A	gnomAD
SIX4	Q9UIU6	p.Ala40Gly	rs1485247127	missense variant	-	NC_000014.9:g.60723956G>C	gnomAD
SIX4	Q9UIU6	p.Ala40Thr	rs1185688453	missense variant	-	NC_000014.9:g.60723957C>T	gnomAD
SIX4	Q9UIU6	p.Val41Leu	rs1263582542	missense variant	-	NC_000014.9:g.60723954C>G	TOPMed,gnomAD
SIX4	Q9UIU6	p.Val41Gly	rs981959375	missense variant	-	NC_000014.9:g.60723953A>C	gnomAD
SIX4	Q9UIU6	p.Val41Ala	rs981959375	missense variant	-	NC_000014.9:g.60723953A>G	gnomAD
SIX4	Q9UIU6	p.Val41Ile	rs1263582542	missense variant	-	NC_000014.9:g.60723954C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu43Gln	rs1283109377	missense variant	-	NC_000014.9:g.60723947A>T	gnomAD
SIX4	Q9UIU6	p.Ser44Arg	rs368086407	missense variant	-	NC_000014.9:g.60723945T>G	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro45Thr	rs1357823870	missense variant	-	NC_000014.9:g.60723942G>T	gnomAD
SIX4	Q9UIU6	p.Pro46Leu	rs1004539507	missense variant	-	NC_000014.9:g.60723938G>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro46Ser	rs1277953239	missense variant	-	NC_000014.9:g.60723939G>A	TOPMed
SIX4	Q9UIU6	p.Pro46ArgPheSerTerUnkUnk	COSM5105901	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60723938G>-	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Pro48Leu	rs1299123346	missense variant	-	NC_000014.9:g.60723932G>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro48Thr	rs375118853	missense variant	-	NC_000014.9:g.60723933G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro50Ser	rs777326618	missense variant	-	NC_000014.9:g.60723927G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Pro52Leu	rs1317896382	missense variant	-	NC_000014.9:g.60723920G>A	gnomAD
SIX4	Q9UIU6	p.Pro52Thr	rs764503585	missense variant	-	NC_000014.9:g.60723921G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro52Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723921G>A	NCI-TCGA
SIX4	Q9UIU6	p.Pro55Gln	rs1284785963	missense variant	-	NC_000014.9:g.60723911G>T	TOPMed
SIX4	Q9UIU6	p.Pro55Ser	rs761151712	missense variant	-	NC_000014.9:g.60723912G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly56Arg	rs1489227511	missense variant	-	NC_000014.9:g.60723909C>G	TOPMed
SIX4	Q9UIU6	p.Asp57Glu	rs748952034	missense variant	-	NC_000014.9:g.60723904G>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Asp57Asn	rs1162746915	missense variant	-	NC_000014.9:g.60723906C>T	gnomAD
SIX4	Q9UIU6	p.Ala61Thr	rs1370414407	missense variant	-	NC_000014.9:g.60723894C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala62Ser	rs1188115597	missense variant	-	NC_000014.9:g.60723891C>A	gnomAD
SIX4	Q9UIU6	p.Val65Met	rs544876285	missense variant	-	NC_000014.9:g.60723882C>T	1000Genomes
SIX4	Q9UIU6	p.Val65Gly	rs748059941	missense variant	-	NC_000014.9:g.60723881A>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu68Val	rs754730355	missense variant	-	NC_000014.9:g.60723872T>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu68Gly	rs754730355	missense variant	-	NC_000014.9:g.60723872T>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly70Ala	rs1270675393	missense variant	-	NC_000014.9:g.60723866C>G	gnomAD
SIX4	Q9UIU6	p.Val72Glu	rs900259728	missense variant	-	NC_000014.9:g.60723860A>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala75Val	rs779768619	missense variant	-	NC_000014.9:g.60723851G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Ala76Val	rs1376406359	missense variant	-	NC_000014.9:g.60723848G>A	TOPMed
SIX4	Q9UIU6	p.Ala79Thr	rs1288556437	missense variant	-	NC_000014.9:g.60723840C>T	gnomAD
SIX4	Q9UIU6	p.Ala80Glu	rs1396815418	missense variant	-	NC_000014.9:g.60723836G>T	gnomAD
SIX4	Q9UIU6	p.Ala80Thr	rs1157777787	missense variant	-	NC_000014.9:g.60723837C>T	gnomAD
SIX4	Q9UIU6	p.Ala81Val	rs1460979245	missense variant	-	NC_000014.9:g.60723833G>A	gnomAD
SIX4	Q9UIU6	p.Asp82Glu	rs1172412943	missense variant	-	NC_000014.9:g.60723829A>C	gnomAD
SIX4	Q9UIU6	p.Val84Ile	rs1418479919	missense variant	-	NC_000014.9:g.60723825C>T	gnomAD
SIX4	Q9UIU6	p.His87Arg	rs556072917	missense variant	-	NC_000014.9:g.60723815T>C	1000Genomes,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.His87Pro	rs556072917	missense variant	-	NC_000014.9:g.60723815T>G	1000Genomes,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser88Leu	rs1252461904	missense variant	-	NC_000014.9:g.60723812G>A	gnomAD
SIX4	Q9UIU6	p.Leu91Met	rs1485846638	missense variant	-	NC_000014.9:g.60723804G>T	TOPMed
SIX4	Q9UIU6	p.Leu91Pro	rs1207211703	missense variant	-	NC_000014.9:g.60723803A>G	gnomAD
SIX4	Q9UIU6	p.Arg93Ser	rs764700040	missense variant	-	NC_000014.9:g.60723796C>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg93Trp	rs1042312414	missense variant	-	NC_000014.9:g.60723798T>A	TOPMed
SIX4	Q9UIU6	p.Ala97Val	rs1373546137	missense variant	-	NC_000014.9:g.60723785G>A	gnomAD
SIX4	Q9UIU6	p.Ala97Thr	rs573829440	missense variant	-	NC_000014.9:g.60723786C>T	1000Genomes,gnomAD
SIX4	Q9UIU6	p.Ala97Pro	rs573829440	missense variant	-	NC_000014.9:g.60723786C>G	1000Genomes,gnomAD
SIX4	Q9UIU6	p.Ala98Val	rs1440319734	missense variant	-	NC_000014.9:g.60723782G>A	gnomAD
SIX4	Q9UIU6	p.Ala100Val	rs1460357832	missense variant	-	NC_000014.9:g.60723776G>A	gnomAD
SIX4	Q9UIU6	p.Ala100Thr	rs1299847736	missense variant	-	NC_000014.9:g.60723777C>T	gnomAD
SIX4	Q9UIU6	p.Ala102Glu	rs553541468	missense variant	-	NC_000014.9:g.60723770G>T	1000Genomes,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala102Thr	rs1176436500	missense variant	-	NC_000014.9:g.60723771C>T	gnomAD
SIX4	Q9UIU6	p.Gln103His	rs775911648	missense variant	-	NC_000014.9:g.60723766C>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro105Leu	rs920961519	missense variant	-	NC_000014.9:g.60723761G>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro105Ser	rs928036389	missense variant	-	NC_000014.9:g.60723762G>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro105Arg	rs920961519	missense variant	-	NC_000014.9:g.60723761G>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro105Thr	rs928036389	missense variant	-	NC_000014.9:g.60723762G>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu106Pro	rs1179490436	missense variant	-	NC_000014.9:g.60723758A>G	gnomAD
SIX4	Q9UIU6	p.Ala107Val	rs1348324689	missense variant	-	NC_000014.9:g.60723755G>A	TOPMed
SIX4	Q9UIU6	p.Pro110Leu	rs1251237661	missense variant	-	NC_000014.9:g.60723746G>A	gnomAD
SIX4	Q9UIU6	p.Val116Leu	rs1350470296	missense variant	-	NC_000014.9:g.60723729C>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Val116Leu	rs1350470296	missense variant	-	NC_000014.9:g.60723729C>G	TOPMed,gnomAD
SIX4	Q9UIU6	p.Val116Met	rs1350470296	missense variant	-	NC_000014.9:g.60723729C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu118Lys	rs1210344312	missense variant	-	NC_000014.9:g.60723723C>T	gnomAD
SIX4	Q9UIU6	p.Ala119Thr	rs1463751675	missense variant	-	NC_000014.9:g.60723720C>T	gnomAD
SIX4	Q9UIU6	p.Gln122Leu	rs769249140	missense variant	-	NC_000014.9:g.60723710T>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly123Arg	rs747691579	missense variant	-	NC_000014.9:g.60723708C>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly123Glu	rs1309159764	missense variant	-	NC_000014.9:g.60723707C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly124Asp	rs1210952390	missense variant	-	NC_000014.9:g.60723704C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly124AlaPheSerTerUnkUnk	COSM1370371	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60723704C>-	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Asn125His	rs1303346846	missense variant	-	NC_000014.9:g.60723702T>G	TOPMed,gnomAD
SIX4	Q9UIU6	p.Asn125Tyr	rs1303346846	missense variant	-	NC_000014.9:g.60723702T>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg128Cys	rs776486708	missense variant	-	NC_000014.9:g.60723693G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Arg128Leu	rs571233349	missense variant	-	NC_000014.9:g.60723692C>A	1000Genomes,gnomAD
SIX4	Q9UIU6	p.Arg131Trp	rs551373303	missense variant	-	NC_000014.9:g.60723684G>A	1000Genomes,TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg131Gly	rs551373303	missense variant	-	NC_000014.9:g.60723684G>C	1000Genomes,TOPMed,gnomAD
SIX4	Q9UIU6	p.Trp134Ser	rs961566563	missense variant	-	NC_000014.9:g.60723674C>G	TOPMed
SIX4	Q9UIU6	p.Ser135Ala	rs746983349	missense variant	-	NC_000014.9:g.60723672A>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser135Phe	rs779864159	missense variant	-	NC_000014.9:g.60723671G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Pro137Ser	rs1486875481	missense variant	-	NC_000014.9:g.60723666G>A	gnomAD
SIX4	Q9UIU6	p.Ser139Gly	rs1255789544	missense variant	-	NC_000014.9:g.60723660T>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser139Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723659C>T	NCI-TCGA
SIX4	Q9UIU6	p.Leu141Val	rs758171916	missense variant	-	NC_000014.9:g.60723654G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly144Val	rs1262710954	missense variant	-	NC_000014.9:g.60723644C>A	gnomAD
SIX4	Q9UIU6	p.Asn145Ser	rs746053731	missense variant	-	NC_000014.9:g.60723641T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Glu146Gln	rs1316390095	missense variant	-	NC_000014.9:g.60723639C>G	gnomAD
SIX4	Q9UIU6	p.Glu146Asp	COSM4847717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60723637C>G	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Ala151Ser	rs1368283775	missense variant	-	NC_000014.9:g.60723624C>A	TOPMed
SIX4	Q9UIU6	p.Arg152Leu	rs753978471	missense variant	-	NC_000014.9:g.60723620C>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Arg152Gln	rs753978471	missense variant	-	NC_000014.9:g.60723620C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Ala153Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723618C>G	NCI-TCGA
SIX4	Q9UIU6	p.Leu154Phe	rs756685864	missense variant	-	NC_000014.9:g.60723615G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Ala156Val	rs1166313514	missense variant	-	NC_000014.9:g.60723608G>A	gnomAD
SIX4	Q9UIU6	p.Pro163Ala	rs759844012	missense variant	-	NC_000014.9:g.60723588G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Leu165Phe	rs1485604350	missense variant	-	NC_000014.9:g.60723582G>A	gnomAD
SIX4	Q9UIU6	p.Ile168Ser	COSM3987705	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60723572A>C	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Leu169Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723570G>T	NCI-TCGA
SIX4	Q9UIU6	p.Glu170Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723565C>G	NCI-TCGA
SIX4	Q9UIU6	p.Glu175Gly	rs1292581615	missense variant	-	NC_000014.9:g.60723551T>C	gnomAD
SIX4	Q9UIU6	p.Glu175Lys	rs776111621	missense variant	-	NC_000014.9:g.60723552C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser176Leu	rs768191954	missense variant	-	NC_000014.9:g.60723548G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser176Pro	rs1259516783	missense variant	-	NC_000014.9:g.60723549A>G	TOPMed
SIX4	Q9UIU6	p.Ser176Trp	rs768191954	missense variant	-	NC_000014.9:g.60723548G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Ala177Thr	rs867094320	missense variant	-	NC_000014.9:g.60723546C>T	gnomAD
SIX4	Q9UIU6	p.His179Gln	rs1197524511	missense variant	-	NC_000014.9:g.60723538G>C	TOPMed
SIX4	Q9UIU6	p.Pro180Thr	rs775311369	missense variant	-	NC_000014.9:g.60723537G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro180Ser	rs775311369	missense variant	-	NC_000014.9:g.60723537G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gln184His	rs1459409353	missense variant	-	NC_000014.9:g.60723523C>G	gnomAD
SIX4	Q9UIU6	p.Leu185Val	rs745653325	missense variant	-	NC_000014.9:g.60723522G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Lys188Glu	rs1164809225	missense variant	-	NC_000014.9:g.60723513T>C	gnomAD
SIX4	Q9UIU6	p.Thr192Ala	rs1267131451	missense variant	-	NC_000014.9:g.60723501T>C	TOPMed
SIX4	Q9UIU6	p.Glu193Asp	rs900248071	missense variant	-	NC_000014.9:g.60723496C>G	TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala194Thr	rs1428086850	missense variant	-	NC_000014.9:g.60723495C>T	gnomAD
SIX4	Q9UIU6	p.Arg196Gln	rs777970348	missense variant	-	NC_000014.9:g.60723488C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Arg196Gly	rs1467174039	missense variant	-	NC_000014.9:g.60723489G>C	gnomAD
SIX4	Q9UIU6	p.Ala197Gly	rs1341233558	missense variant	-	NC_000014.9:g.60723485G>C	gnomAD
SIX4	Q9UIU6	p.Ala197Val	rs1341233558	missense variant	-	NC_000014.9:g.60723485G>A	gnomAD
SIX4	Q9UIU6	p.Arg198Cys	rs1249343940	missense variant	-	NC_000014.9:g.60723483G>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly199Ser	rs1226245612	missense variant	-	NC_000014.9:g.60723480C>T	gnomAD
SIX4	Q9UIU6	p.Arg200Gln	rs1360336268	missense variant	-	NC_000014.9:g.60723476C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro201Gln	rs377457547	missense variant	-	NC_000014.9:g.60723473G>T	ESP,ExAC,gnomAD
SIX4	Q9UIU6	p.Pro201Leu	rs377457547	missense variant	-	NC_000014.9:g.60723473G>A	ESP,ExAC,gnomAD
SIX4	Q9UIU6	p.Leu202Pro	rs781584658	missense variant	-	NC_000014.9:g.60723470A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly203Ala	rs755306854	missense variant	-	NC_000014.9:g.60723467C>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Val205Leu	rs1410972380	missense variant	-	NC_000014.9:g.60723462C>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Asp206Gly	rs1399103019	missense variant	-	NC_000014.9:g.60723458T>C	gnomAD
SIX4	Q9UIU6	p.Lys207Asn	rs1461795565	missense variant	-	NC_000014.9:g.60723454C>G	gnomAD
SIX4	Q9UIU6	p.Arg209Gly	rs761421510	missense variant	-	NC_000014.9:g.60723450G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Arg209Trp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723450G>A	NCI-TCGA
SIX4	Q9UIU6	p.Arg211Gly	rs753533658	missense variant	-	NC_000014.9:g.60723444G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Arg211Cys	rs753533658	missense variant	-	NC_000014.9:g.60723444G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Arg212Lys	rs763542256	missense variant	-	NC_000014.9:g.60723440C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Phe214Ile	rs760134099	missense variant	-	NC_000014.9:g.60723435A>T	ExAC
SIX4	Q9UIU6	p.Pro215Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723432G>A	NCI-TCGA
SIX4	Q9UIU6	p.Pro217Ala	rs1248320965	missense variant	-	NC_000014.9:g.60723426G>C	gnomAD
SIX4	Q9UIU6	p.Pro217Leu	rs1195067920	missense variant	-	NC_000014.9:g.60723425G>A	gnomAD
SIX4	Q9UIU6	p.Arg218Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723423G>A	NCI-TCGA
SIX4	Q9UIU6	p.Trp221Ser	rs1231574541	missense variant	-	NC_000014.9:g.60723413C>G	TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly223Arg	rs774285251	missense variant	-	NC_000014.9:g.60723408C>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Val227Leu	rs879477760	missense variant	-	NC_000014.9:g.60723396C>A	gnomAD
SIX4	Q9UIU6	p.Val227Met	rs879477760	missense variant	-	NC_000014.9:g.60723396C>T	gnomAD
SIX4	Q9UIU6	p.Val227Ala	rs778163761	missense variant	-	NC_000014.9:g.60723395A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Tyr228Cys	rs769882285	missense variant	-	NC_000014.9:g.60723392T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Cys229Arg	rs1217600145	missense variant	-	NC_000014.9:g.60723390A>G	TOPMed
SIX4	Q9UIU6	p.Glu232Gln	rs755430527	missense variant	-	NC_000014.9:g.60723381C>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu232Lys	rs755430527	missense variant	-	NC_000014.9:g.60723381C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu232Asp	COSM1323464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60723379C>G	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Asn236Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723367G>C	NCI-TCGA
SIX4	Q9UIU6	p.Asn236Ile	rs1159286333	missense variant	-	NC_000014.9:g.60723368T>A	gnomAD
SIX4	Q9UIU6	p.Ala237Thr	rs547538707	missense variant	-	NC_000014.9:g.60723366C>T	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Lys239Asn	rs144024030	missense variant	-	NC_000014.9:g.60723358C>A	ESP,ExAC,gnomAD
SIX4	Q9UIU6	p.Lys239Arg	rs375683969	missense variant	-	NC_000014.9:g.60723359T>C	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu240Asp	rs149547964	missense variant	-	NC_000014.9:g.60723355C>A	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gln244Arg	rs1055094353	missense variant	-	NC_000014.9:g.60723344T>C	TOPMed
SIX4	Q9UIU6	p.Asn245Lys	rs759515898	missense variant	-	NC_000014.9:g.60723340A>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg246His	rs774479500	missense variant	-	NC_000014.9:g.60723338C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Tyr247Ser	rs766227737	missense variant	-	NC_000014.9:g.60723335T>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Tyr247His	rs1347877917	missense variant	-	NC_000014.9:g.60723336A>G	gnomAD
SIX4	Q9UIU6	p.Pro248His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723332G>T	NCI-TCGA
SIX4	Q9UIU6	p.Ser249Pro	rs769923957	missense variant	-	NC_000014.9:g.60723330A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Pro250Thr	rs1358863800	missense variant	-	NC_000014.9:g.60723327G>T	gnomAD
SIX4	Q9UIU6	p.Pro250Ser	rs1358863800	missense variant	-	NC_000014.9:g.60723327G>A	gnomAD
SIX4	Q9UIU6	p.Pro250His	rs776538776	missense variant	-	NC_000014.9:g.60723326G>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Ala251Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723324C>A	NCI-TCGA
SIX4	Q9UIU6	p.Ala251Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723323G>T	NCI-TCGA
SIX4	Q9UIU6	p.Glu252Asp	rs780566842	missense variant	-	NC_000014.9:g.60723319C>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu252Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.60723321C>A	NCI-TCGA
SIX4	Q9UIU6	p.Leu256Met	rs746244840	missense variant	-	NC_000014.9:g.60723309G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Lys258Arg	rs150719134	missense variant	-	NC_000014.9:g.60723302T>C	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Lys258Glu	rs908681256	missense variant	-	NC_000014.9:g.60723303T>C	TOPMed
SIX4	Q9UIU6	p.Lys258Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723301C>G	NCI-TCGA
SIX4	Q9UIU6	p.Gly261Ser	rs766917332	missense variant	-	NC_000014.9:g.60723294C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser263Phe	rs1217439525	missense variant	-	NC_000014.9:g.60723287G>A	gnomAD
SIX4	Q9UIU6	p.Gln266Ter	rs1282866906	stop gained	-	NC_000014.9:g.60723279G>A	gnomAD
SIX4	Q9UIU6	p.Ser268Gly	rs1311367457	missense variant	-	NC_000014.9:g.60723273T>C	TOPMed
SIX4	Q9UIU6	p.Asn269Lys	rs1242904044	missense variant	-	NC_000014.9:g.60723268G>T	TOPMed
SIX4	Q9UIU6	p.Trp270Leu	rs751503615	missense variant	-	NC_000014.9:g.60723266C>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Phe271Tyr	rs766427828	missense variant	-	NC_000014.9:g.60723263A>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Lys272Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60723259C>A	NCI-TCGA
SIX4	Q9UIU6	p.Asn273Tyr	rs1364840489	missense variant	-	NC_000014.9:g.60723258T>A	gnomAD
SIX4	Q9UIU6	p.Asn273Thr	rs554636742	missense variant	-	NC_000014.9:g.60723257T>G	ExAC
SIX4	Q9UIU6	p.Arg274Ser	rs1295633095	missense variant	-	NC_000014.9:g.60723255G>T	gnomAD
SIX4	Q9UIU6	p.Arg277Cys	rs1378859461	missense variant	-	NC_000014.9:g.60723246G>A	gnomAD
SIX4	Q9UIU6	p.Asp278Asn	rs772871390	missense variant	-	NC_000014.9:g.60723243C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Asp278Tyr	rs772871390	missense variant	-	NC_000014.9:g.60723243C>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Arg279Lys	rs1029034096	missense variant	-	NC_000014.9:g.60723239C>T	TOPMed
SIX4	Q9UIU6	p.Pro281Thr	rs761915815	missense variant	-	NC_000014.9:g.60723234G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro281Ser	rs761915815	missense variant	-	NC_000014.9:g.60723234G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser282Thr	rs768573845	missense variant	-	NC_000014.9:g.60723231A>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu283Gly	rs1423056420	missense variant	-	NC_000014.9:g.60723227T>C	gnomAD
SIX4	Q9UIU6	p.Glu283Lys	rs981461204	missense variant	-	NC_000014.9:g.60723228C>T	TOPMed
SIX4	Q9UIU6	p.Thr284Asn	rs775917475	missense variant	-	NC_000014.9:g.60723224G>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Gln285His	rs746439285	missense variant	-	NC_000014.9:g.60723220C>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Lys287Arg	rs1193779796	missense variant	-	NC_000014.9:g.60723215T>C	gnomAD
SIX4	Q9UIU6	p.Ser288Asn	rs1275643006	missense variant	-	NC_000014.9:g.60723212C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser288Gly	rs1469400804	missense variant	-	NC_000014.9:g.60723213T>C	gnomAD
SIX4	Q9UIU6	p.Glu289Gln	rs1274247500	missense variant	-	NC_000014.9:g.60720444C>G	TOPMed
SIX4	Q9UIU6	p.Ser290Leu	rs768415060	missense variant	-	NC_000014.9:g.60720440G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly292Ser	rs1367036432	missense variant	-	NC_000014.9:g.60720435C>T	gnomAD
SIX4	Q9UIU6	p.Gly292Asp	rs779683654	missense variant	-	NC_000014.9:g.60720434C>T	ExAC
SIX4	Q9UIU6	p.Glu297Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720419T>A	NCI-TCGA
SIX4	Q9UIU6	p.Ser301Asn	rs1341050009	missense variant	-	NC_000014.9:g.60720407C>T	TOPMed
SIX4	Q9UIU6	p.Gly303Val	COSM3496673	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720401C>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.His304Leu	rs756941561	missense variant	-	NC_000014.9:g.60720398T>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.His304Tyr	rs948749164	missense variant	-	NC_000014.9:g.60720399G>A	TOPMed
SIX4	Q9UIU6	p.Glu305Lys	rs753653067	missense variant	-	NC_000014.9:g.60720396C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Asp306Asn	rs917378814	missense variant	-	NC_000014.9:g.60720393C>T	TOPMed
SIX4	Q9UIU6	p.Leu307Ser	rs763942270	missense variant	-	NC_000014.9:g.60720389A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Leu307Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720390A>C	NCI-TCGA
SIX4	Q9UIU6	p.Pro309His	rs760854065	missense variant	-	NC_000014.9:g.60720383G>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Pro309Ser	COSM3886163	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720384G>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.His310Arg	rs1215445010	missense variant	-	NC_000014.9:g.60720380T>C	gnomAD
SIX4	Q9UIU6	p.Pro311Ser	rs752966828	missense variant	-	NC_000014.9:g.60720378G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser313Cys	rs767537596	missense variant	-	NC_000014.9:g.60720371G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser313Phe	rs767537596	missense variant	-	NC_000014.9:g.60720371G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser316Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720362G>C	NCI-TCGA
SIX4	Q9UIU6	p.Asp317Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720360C>T	NCI-TCGA
SIX4	Q9UIU6	p.Gly318Asp	rs774654717	missense variant	-	NC_000014.9:g.60720356C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Thr320Asn	rs1294915313	missense variant	-	NC_000014.9:g.60720350G>T	gnomAD
SIX4	Q9UIU6	p.Asn321Ser	rs141484791	missense variant	-	NC_000014.9:g.60720347T>C	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser323Ile	rs555790027	missense variant	-	NC_000014.9:g.60720341C>A	1000Genomes
SIX4	Q9UIU6	p.Leu324Phe	rs773710587	missense variant	-	NC_000014.9:g.60720339G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Met328Ile	rs1445466633	missense variant	-	NC_000014.9:g.60720325C>T	TOPMed
SIX4	Q9UIU6	p.Gln334His	rs1462804425	missense variant	-	NC_000014.9:g.60720307T>A	gnomAD
SIX4	Q9UIU6	p.Gln334Lys	rs775311477	missense variant	-	NC_000014.9:g.60720309G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gln334Pro	rs1411884787	missense variant	-	NC_000014.9:g.60720308T>G	TOPMed
SIX4	Q9UIU6	p.Ile336Val	rs771636811	missense variant	-	NC_000014.9:g.60720303T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly337Ala	rs745392790	missense variant	-	NC_000014.9:g.60720299C>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Asn338Tyr	rs1253654769	missense variant	-	NC_000014.9:g.60720297T>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala339Val	rs535591004	missense variant	-	NC_000014.9:g.60720293G>A	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Lys340Glu	rs1345750373	missense variant	-	NC_000014.9:g.60720291T>C	TOPMed
SIX4	Q9UIU6	p.Lys340Asn	COSM3419931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720289C>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Ile341Thr	rs1341169959	missense variant	-	NC_000014.9:g.60720287A>G	gnomAD
SIX4	Q9UIU6	p.Ile341Leu	rs1196205873	missense variant	-	NC_000014.9:g.60720288T>G	gnomAD
SIX4	Q9UIU6	p.Ser344Cys	rs777521150	missense variant	-	NC_000014.9:g.60720279T>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly347Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720269C>T	NCI-TCGA
SIX4	Q9UIU6	p.Leu349Pro	rs1318312179	missense variant	-	NC_000014.9:g.60720263A>G	TOPMed
SIX4	Q9UIU6	p.Leu349Met	rs1304906326	missense variant	-	NC_000014.9:g.60720264G>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu350Met	rs1433671559	missense variant	-	NC_000014.9:g.60720261A>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Asn351Ser	rs138601362	missense variant	-	NC_000014.9:g.60720257T>C	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly352Glu	rs1285644552	missense variant	-	NC_000014.9:g.60720254C>T	TOPMed
SIX4	Q9UIU6	p.Val355Leu	rs144643214	missense variant	-	NC_000014.9:g.60720246C>G	ESP,gnomAD
SIX4	Q9UIU6	p.Pro356Ser	rs1353780660	missense variant	-	NC_000014.9:g.60720243G>A	TOPMed
SIX4	Q9UIU6	p.Pro356Arg	rs1392378259	missense variant	-	NC_000014.9:g.60720242G>C	gnomAD
SIX4	Q9UIU6	p.Ala357Ser	rs767731543	missense variant	-	NC_000014.9:g.60720240C>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser358Thr	rs751648573	missense variant	-	NC_000014.9:g.60720236C>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser358Asn	rs751648573	missense variant	-	NC_000014.9:g.60720236C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser358Gly	rs754956376	missense variant	-	NC_000014.9:g.60720237T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser360Leu	COSM4403029	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720230G>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Pro361Ser	rs376577214	missense variant	-	NC_000014.9:g.60720228G>A	ESP,TOPMed,gnomAD
SIX4	Q9UIU6	p.Val362Ile	rs766439878	missense variant	-	NC_000014.9:g.60720225C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Phe363Ser	rs373554061	missense variant	-	NC_000014.9:g.60720221A>G	ESP,TOPMed,gnomAD
SIX4	Q9UIU6	p.Phe363Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720221A>C	NCI-TCGA
SIX4	Q9UIU6	p.Gly366Arg	rs1182385234	missense variant	-	NC_000014.9:g.60720213C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Asn367Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720209T>C	NCI-TCGA
SIX4	Q9UIU6	p.Ser368Tyr	rs369624724	missense variant	-	NC_000014.9:g.60720206G>T	ESP,ExAC,gnomAD
SIX4	Q9UIU6	p.Ile370Phe	COSM3987704	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720201T>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Gln371ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.60720196_60720197CT>-	NCI-TCGA
SIX4	Q9UIU6	p.Gly372Arg	rs765653999	missense variant	-	NC_000014.9:g.60720195C>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Pro373Leu	rs377168936	missense variant	-	NC_000014.9:g.60720191G>A	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro373Arg	rs377168936	missense variant	-	NC_000014.9:g.60720191G>C	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser374Asn	rs1324085543	missense variant	-	NC_000014.9:g.60720188C>T	gnomAD
SIX4	Q9UIU6	p.Val376Ile	rs775221269	missense variant	-	NC_000014.9:g.60720183C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Ile377Thr	rs771738530	missense variant	-	NC_000014.9:g.60720179A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly380Arg	rs1343638010	missense variant	-	NC_000014.9:g.60720171C>T	gnomAD
SIX4	Q9UIU6	p.Leu381Ile	rs909521071	missense variant	-	NC_000014.9:g.60720168A>T	TOPMed
SIX4	Q9UIU6	p.Gly384Glu	COSM4051589	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720158C>T	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Gln387Glu	rs745573597	missense variant	-	NC_000014.9:g.60720150G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Gln387Pro	rs1240330555	missense variant	-	NC_000014.9:g.60720149T>G	gnomAD
SIX4	Q9UIU6	p.Ala390Thr	rs1409600652	missense variant	-	NC_000014.9:g.60720141C>T	gnomAD
SIX4	Q9UIU6	p.Asn392Lys	rs1159243746	missense variant	-	NC_000014.9:g.60720133G>C	TOPMed
SIX4	Q9UIU6	p.Pro393Ser	rs140880760	missense variant	-	NC_000014.9:g.60720132G>A	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser398Ter	COSM4939195	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60720116G>C	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Ser398Thr	rs777721402	missense variant	-	NC_000014.9:g.60720117A>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Asn399Ile	rs372742460	missense variant	-	NC_000014.9:g.60720113T>A	ESP,ExAC,gnomAD
SIX4	Q9UIU6	p.Ile400Val	rs747951615	missense variant	-	NC_000014.9:g.60720111T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly404Asp	rs201433195	missense variant	-	NC_000014.9:g.60720098C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser406Tyr	rs1475394722	missense variant	-	NC_000014.9:g.60720092G>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Met407Val	rs1387789958	missense variant	-	NC_000014.9:g.60720090T>C	TOPMed
SIX4	Q9UIU6	p.Thr408Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720087T>A	NCI-TCGA
SIX4	Q9UIU6	p.Asp409Tyr	rs1259241156	missense variant	-	NC_000014.9:g.60720084C>A	gnomAD
SIX4	Q9UIU6	p.Leu411Pro	rs1453152540	missense variant	-	NC_000014.9:g.60720077A>G	TOPMed
SIX4	Q9UIU6	p.Gly412Glu	rs750889907	missense variant	-	NC_000014.9:g.60720074C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly412Trp	rs758435860	missense variant	-	NC_000014.9:g.60720075C>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly412Arg	rs758435860	missense variant	-	NC_000014.9:g.60720075C>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser413Cys	rs765850223	missense variant	-	NC_000014.9:g.60720071G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Thr414Ala	rs762464402	missense variant	-	NC_000014.9:g.60720069T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Thr414Ile	rs1446755480	missense variant	-	NC_000014.9:g.60720068G>A	TOPMed
SIX4	Q9UIU6	p.Ser415Pro	rs1228220520	missense variant	-	NC_000014.9:g.60720066A>G	gnomAD
SIX4	Q9UIU6	p.Ser415Phe	rs1279634297	missense variant	-	NC_000014.9:g.60720065G>A	TOPMed
SIX4	Q9UIU6	p.Gln416Arg	rs1388241188	missense variant	-	NC_000014.9:g.60720062T>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.Gln416His	rs764404433	missense variant	-	NC_000014.9:g.60720061C>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Asp417Asn	rs1446008267	missense variant	-	NC_000014.9:g.60720060C>T	gnomAD
SIX4	Q9UIU6	p.Val418Met	rs1268108196	missense variant	-	NC_000014.9:g.60720057C>T	TOPMed
SIX4	Q9UIU6	p.Glu420Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720049T>A	NCI-TCGA
SIX4	Q9UIU6	p.Glu420Ter	rs1319131548	stop gained	-	NC_000014.9:g.60720051C>A	gnomAD
SIX4	Q9UIU6	p.Phe421Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720046G>T	NCI-TCGA
SIX4	Q9UIU6	p.Lys422Arg	rs759203712	missense variant	-	NC_000014.9:g.60720044T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Val423Ile	rs143336634	missense variant	-	NC_000014.9:g.60720042C>T	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala428Pro	rs947061026	missense variant	-	NC_000014.9:g.60720027C>G	TOPMed
SIX4	Q9UIU6	p.Ala428Asp	rs768453686	missense variant	-	NC_000014.9:g.60720026G>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Asn429Asp	rs1461786853	missense variant	-	NC_000014.9:g.60720024T>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr432Ala	rs61740042	missense variant	-	NC_000014.9:g.60720015T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr432Asn	rs769707973	missense variant	-	NC_000014.9:g.60720014G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr432Ser	COSM1370368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60720014G>C	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Thr434Met	rs775441122	missense variant	-	NC_000014.9:g.60720008G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr434Lys	rs775441122	missense variant	-	NC_000014.9:g.60720008G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser435Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60720005G>C	NCI-TCGA
SIX4	Q9UIU6	p.Ser437Asn	rs758490488	missense variant	-	NC_000014.9:g.60719999C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Pro438Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60719997G>A	NCI-TCGA
SIX4	Q9UIU6	p.Val440Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60719991C>T	NCI-TCGA
SIX4	Q9UIU6	p.Ser443Leu	rs1208610513	missense variant	-	NC_000014.9:g.60719981G>A	gnomAD
SIX4	Q9UIU6	p.Gly446Asp	rs750515774	missense variant	-	NC_000014.9:g.60719972C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ile448Val	rs1355996270	missense variant	-	NC_000014.9:g.60719967T>C	gnomAD
SIX4	Q9UIU6	p.Pro449Ala	rs779197948	missense variant	-	NC_000014.9:g.60719964G>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro449Ser	rs779197948	missense variant	-	NC_000014.9:g.60719964G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser450Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60719960C>T	NCI-TCGA
SIX4	Q9UIU6	p.Thr451Ile	rs550941900	missense variant	-	NC_000014.9:g.60719957G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr451Ser	rs550941900	missense variant	-	NC_000014.9:g.60719957G>C	1000Genomes,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg455Thr	COSM1477665	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719945C>G	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Ile458Thr	COSM1370367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719936A>G	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Gln459Arg	rs760978242	missense variant	-	NC_000014.9:g.60719933T>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr460Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60719931T>C	NCI-TCGA
SIX4	Q9UIU6	p.Val461Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60719928C>A	NCI-TCGA
SIX4	Q9UIU6	p.Ala462Gly	rs751157305	missense variant	-	NC_000014.9:g.60719924G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Ala462Thr	COSM285006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719925C>T	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Ser463Phe	rs765963137	missense variant	-	NC_000014.9:g.60719921G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Asp465Gly	COSM1562598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719915T>C	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Gly467Val	rs1346723811	missense variant	-	NC_000014.9:g.60719909C>A	TOPMed
SIX4	Q9UIU6	p.Gly467Arg	rs1287118294	missense variant	-	NC_000014.9:g.60719910C>T	TOPMed
SIX4	Q9UIU6	p.Ser468Pro	rs1235998908	missense variant	-	NC_000014.9:g.60719907A>G	TOPMed
SIX4	Q9UIU6	p.Val469Ile	rs1000491025	missense variant	-	NC_000014.9:g.60719904C>T	TOPMed
SIX4	Q9UIU6	p.Val476Met	rs530684279	missense variant	-	NC_000014.9:g.60719883C>T	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Gln477Glu	rs1344834254	missense variant	-	NC_000014.9:g.60719880G>C	TOPMed
SIX4	Q9UIU6	p.Gln480Arg	rs1170046761	missense variant	-	NC_000014.9:g.60719870T>C	gnomAD
SIX4	Q9UIU6	p.Gln480His	rs904447933	missense variant	-	NC_000014.9:g.60719869C>G	TOPMed
SIX4	Q9UIU6	p.Gly482Ser	rs772707329	missense variant	-	NC_000014.9:g.60719865C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly482Val	COSM4051588	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719864C>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Ile483Thr	rs145386126	missense variant	-	NC_000014.9:g.60719861A>G	ESP,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ile483Asn	rs145386126	missense variant	-	NC_000014.9:g.60719861A>T	ESP,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ile483Val	rs1277086718	missense variant	-	NC_000014.9:g.60719862T>C	TOPMed
SIX4	Q9UIU6	p.Gln485Ter	rs1204550834	stop gained	-	NC_000014.9:g.60719856G>A	TOPMed
SIX4	Q9UIU6	p.Ile486Asn	rs761720723	missense variant	-	NC_000014.9:g.60719852A>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Asn488Asp	rs776459445	missense variant	-	NC_000014.9:g.60719847T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Asn488Ser	rs1433703709	missense variant	-	NC_000014.9:g.60719846T>C	TOPMed
SIX4	Q9UIU6	p.Gly490Arg	rs61743413	missense variant	-	NC_000014.9:g.60719841C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala491Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60719838C>T	NCI-TCGA
SIX4	Q9UIU6	p.Asn492Asp	rs1230833872	missense variant	-	NC_000014.9:g.60719835T>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.Asn492Tyr	rs1230833872	missense variant	-	NC_000014.9:g.60719835T>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Asn492Ser	rs772416382	missense variant	-	NC_000014.9:g.60719834T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser493Gly	rs1168962315	missense variant	-	NC_000014.9:g.60719832T>C	TOPMed
SIX4	Q9UIU6	p.Gln494His	rs779112035	missense variant	-	NC_000014.9:g.60719827C>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Phe495Leu	rs147040477	missense variant	-	NC_000014.9:g.60719824G>T	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser499Asn	rs1012956373	missense variant	-	NC_000014.9:g.60719813C>T	TOPMed
SIX4	Q9UIU6	p.Ile500Thr	rs778148156	missense variant	-	NC_000014.9:g.60719810A>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly501Ala	rs1202874522	missense variant	-	NC_000014.9:g.60719807C>G	gnomAD
SIX4	Q9UIU6	p.Phe502Leu	COSM1370366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719803G>T	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Leu505Pro	rs367915180	missense variant	-	NC_000014.9:g.60719795A>G	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro508His	rs1228651192	missense variant	-	NC_000014.9:g.60719786G>T	TOPMed
SIX4	Q9UIU6	p.Pro508Ser	rs1057261805	missense variant	-	NC_000014.9:g.60719787G>A	TOPMed
SIX4	Q9UIU6	p.Pro509Thr	rs141516639	missense variant	-	NC_000014.9:g.60719784G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro509Ser	rs141516639	missense variant	-	NC_000014.9:g.60719784G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Val510Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60719781C>T	NCI-TCGA
SIX4	Q9UIU6	p.Gln516Arg	rs1389155823	missense variant	-	NC_000014.9:g.60719762T>C	gnomAD
SIX4	Q9UIU6	p.Gly517Val	rs1366990479	missense variant	-	NC_000014.9:g.60714203C>A	gnomAD
SIX4	Q9UIU6	p.Gly517Cys	COSM956751	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60719760C>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Gly517Asp	COSM3496672	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60714203C>T	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Asn518Tyr	rs1164287142	missense variant	-	NC_000014.9:g.60714201T>A	gnomAD
SIX4	Q9UIU6	p.Asn518Ile	rs1450201105	missense variant	-	NC_000014.9:g.60714200T>A	gnomAD
SIX4	Q9UIU6	p.Ile519Phe	rs775517376	missense variant	-	NC_000014.9:g.60714198T>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser520LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.60714194_60714195insGTCA	NCI-TCGA
SIX4	Q9UIU6	p.Val521Ala	rs759409239	missense variant	-	NC_000014.9:g.60714191A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Thr525Ile	rs147871425	missense variant	-	NC_000014.9:g.60714179G>A	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser526Pro	rs1211456661	missense variant	-	NC_000014.9:g.60714177A>G	gnomAD
SIX4	Q9UIU6	p.Asp527Tyr	rs1487367941	missense variant	-	NC_000014.9:g.60714174C>A	gnomAD
SIX4	Q9UIU6	p.Asp527Glu	rs144758266	missense variant	-	NC_000014.9:g.60714172A>T	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Phe531Val	rs773136354	missense variant	-	NC_000014.9:g.60714162A>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Phe531Leu	rs773136354	missense variant	-	NC_000014.9:g.60714162A>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr532Lys	rs560469981	missense variant	-	NC_000014.9:g.60714158G>T	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Thr532Ile	rs560469981	missense variant	-	NC_000014.9:g.60714158G>A	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Thr532Ala	rs769968389	missense variant	-	NC_000014.9:g.60714159T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Glu534Ala	rs781690841	missense variant	-	NC_000014.9:g.60714152T>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Glu534Gly	rs781690841	missense variant	-	NC_000014.9:g.60714152T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Thr536Pro	rs755272792	missense variant	-	NC_000014.9:g.60714147T>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Thr537Ile	rs1169735350	missense variant	-	NC_000014.9:g.60714143G>A	gnomAD
SIX4	Q9UIU6	p.Gln539Ter	rs747356704	stop gained	-	NC_000014.9:g.60714138G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly541Glu	rs756827092	missense variant	-	NC_000014.9:g.60714131C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly541Ala	rs756827092	missense variant	-	NC_000014.9:g.60714131C>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Val543Ala	rs763462190	missense variant	-	NC_000014.9:g.60714125A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Val543Ile	rs1392240504	missense variant	-	NC_000014.9:g.60714126C>T	gnomAD
SIX4	Q9UIU6	p.Phe544Leu	COSM4051587	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60714121G>T	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Phe544Ser	COSM3419929	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60714122A>G	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Ser546Arg	rs755679632	missense variant	-	NC_000014.9:g.60714115G>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser547Ala	rs1378177991	missense variant	-	NC_000014.9:g.60714114A>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser547Pro	rs1378177991	missense variant	-	NC_000014.9:g.60714114A>G	TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu548Pro	rs767574850	missense variant	-	NC_000014.9:g.60714110A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Leu548Phe	rs752615484	missense variant	-	NC_000014.9:g.60714111G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala549Thr	rs1266343975	missense variant	-	NC_000014.9:g.60714108C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro550Thr	rs759605736	missense variant	-	NC_000014.9:g.60714105G>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Pro550Ala	rs759605736	missense variant	-	NC_000014.9:g.60714105G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser551Asn	rs546778627	missense variant	-	NC_000014.9:g.60714101C>T	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Ser551Arg	rs766238530	missense variant	-	NC_000014.9:g.60714102T>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr556Met	rs536442725	missense variant	-	NC_000014.9:g.60714086G>A	1000Genomes,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr560Ile	rs776746445	missense variant	-	NC_000014.9:g.60714074G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Gly561Asp	rs758301893	missense variant	-	NC_000014.9:g.60714071C>T	TOPMed
SIX4	Q9UIU6	p.Gly561Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60714072C>A	NCI-TCGA
SIX4	Q9UIU6	p.Thr563Ser	rs1410822365	missense variant	-	NC_000014.9:g.60714065G>C	gnomAD
SIX4	Q9UIU6	p.Ile564Val	rs769143169	missense variant	-	NC_000014.9:g.60714063T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Leu576Arg	rs772506458	missense variant	-	NC_000014.9:g.60714026A>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu576Gln	rs772506458	missense variant	-	NC_000014.9:g.60714026A>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Phe578Leu	rs748851492	missense variant	-	NC_000014.9:g.60714021A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Gln580Ter	rs1237675183	stop gained	-	NC_000014.9:g.60714015G>A	gnomAD
SIX4	Q9UIU6	p.Met582Ile	rs1473438599	missense variant	-	NC_000014.9:g.60714007C>T	gnomAD
SIX4	Q9UIU6	p.Met582Val	rs1484382110	missense variant	-	NC_000014.9:g.60714009T>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.Val584Ile	rs777485585	missense variant	-	NC_000014.9:g.60714003C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Asn585Ser	rs142590432	missense variant	-	NC_000014.9:g.60713999T>C	ESP,TOPMed
SIX4	Q9UIU6	p.Ala588Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713990G>T	NCI-TCGA
SIX4	Q9UIU6	p.Gln589Glu	rs752241775	missense variant	-	NC_000014.9:g.60713988G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Val590Ile	rs780916999	missense variant	-	NC_000014.9:g.60713985C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Asn591His	rs754936515	missense variant	-	NC_000014.9:g.60713982T>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Ala592Val	rs751598280	missense variant	-	NC_000014.9:g.60713978G>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Asn593Ile	rs77115877	missense variant	-	NC_000014.9:g.60713975T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu594Val	rs374037409	missense variant	-	NC_000014.9:g.60713973G>C	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Asn598His	COSM1370365	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713961T>G	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Asn598Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713961T>C	NCI-TCGA
SIX4	Q9UIU6	p.Ser600Leu	rs765514631	missense variant	-	NC_000014.9:g.60713954G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser600Ala	rs151207390	missense variant	-	NC_000014.9:g.60713955A>C	1000Genomes,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly601Arg	rs762084688	missense variant	-	NC_000014.9:g.60713952C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly601Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713951C>A	NCI-TCGA
SIX4	Q9UIU6	p.Gly603Ser	rs776656826	missense variant	-	NC_000014.9:g.60713946C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly603Asp	rs1336323089	missense variant	-	NC_000014.9:g.60713945C>T	gnomAD
SIX4	Q9UIU6	p.His605Pro	rs3742636	missense variant	-	NC_000014.9:g.60713939T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser609Phe	rs1159753540	missense variant	-	NC_000014.9:g.60713927G>A	gnomAD
SIX4	Q9UIU6	p.Leu611Ser	COSM956750	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713921A>G	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Asn613Ile	rs776006989	missense variant	-	NC_000014.9:g.60713915T>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser615Phe	rs746256722	missense variant	-	NC_000014.9:g.60713909G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Asn619His	rs769482939	missense variant	-	NC_000014.9:g.60713898T>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Asn619Asp	rs769482939	missense variant	-	NC_000014.9:g.60713898T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Phe620Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713894A>G	NCI-TCGA
SIX4	Q9UIU6	p.Ser623Gly	rs141550969	missense variant	-	NC_000014.9:g.60713886T>C	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro624Leu	COSM3886162	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713882G>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Thr626Ala	rs1282903361	missense variant	-	NC_000014.9:g.60713877T>C	TOPMed
SIX4	Q9UIU6	p.Thr626Ile	rs1441309849	missense variant	-	NC_000014.9:g.60713876G>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu628Arg	rs780048379	missense variant	-	NC_000014.9:g.60713870A>C	ExAC
SIX4	Q9UIU6	p.Leu628Val	rs746906318	missense variant	-	NC_000014.9:g.60713871G>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro630Leu	rs758075610	missense variant	-	NC_000014.9:g.60713864G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro630Ser	COSM3496671	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713865G>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Pro630His	rs758075610	missense variant	-	NC_000014.9:g.60713864G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg635Ser	rs764976908	missense variant	-	NC_000014.9:g.60713850G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg635Cys	rs764976908	missense variant	-	NC_000014.9:g.60713850G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg635His	rs972473681	missense variant	-	NC_000014.9:g.60713849C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Asp636Glu	rs760747617	missense variant	-	NC_000014.9:g.60713845G>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Asp636His	rs115086834	missense variant	-	NC_000014.9:g.60713847C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Asp636Asn	rs115086834	missense variant	-	NC_000014.9:g.60713847C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Asp639Asn	rs1030551040	missense variant	-	NC_000014.9:g.60713838C>T	TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro642Arg	rs760029533	missense variant	-	NC_000014.9:g.60713828G>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro642Leu	rs760029533	missense variant	-	NC_000014.9:g.60713828G>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser644Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713823A>T	NCI-TCGA
SIX4	Q9UIU6	p.Pro646Thr	rs368341336	missense variant	-	NC_000014.9:g.60713817G>T	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro646Leu	rs374417781	missense variant	-	NC_000014.9:g.60713816G>A	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Val647Leu	rs747756138	missense variant	-	NC_000014.9:g.60713814C>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Ala648Ser	rs370999892	missense variant	-	NC_000014.9:g.60713811C>A	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Lys650Asn	rs1341491091	missense variant	-	NC_000014.9:g.60713803T>G	TOPMed
SIX4	Q9UIU6	p.Lys650Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713803T>A	NCI-TCGA
SIX4	Q9UIU6	p.Lys650Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713804T>A	NCI-TCGA
SIX4	Q9UIU6	p.Ser651Tyr	rs1452504369	missense variant	-	NC_000014.9:g.60713801G>T	gnomAD
SIX4	Q9UIU6	p.Thr652Ala	rs768218801	missense variant	-	NC_000014.9:g.60713799T>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr652Ile	rs554051282	missense variant	-	NC_000014.9:g.60713798G>A	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Thr652Ser	rs768218801	missense variant	-	NC_000014.9:g.60713799T>A	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Val653Ala	rs758321374	missense variant	-	NC_000014.9:g.60713795A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser655Thr	rs142166461	missense variant	-	NC_000014.9:g.60713790A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser657Asn	rs577860775	missense variant	-	NC_000014.9:g.60713783C>T	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Thr659Ala	rs757073030	missense variant	-	NC_000014.9:g.60713778T>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr659Ile	rs888169297	missense variant	-	NC_000014.9:g.60713777G>A	gnomAD
SIX4	Q9UIU6	p.Tyr661Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.60713770A>T	NCI-TCGA
SIX4	Q9UIU6	p.Thr663Ala	rs757349118	missense variant	-	NC_000014.9:g.60713766T>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Asn666Thr	rs948378659	missense variant	-	NC_000014.9:g.60713756T>G	gnomAD
SIX4	Q9UIU6	p.Cys667Gly	rs1169985092	missense variant	-	NC_000014.9:g.60713754A>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu669Ile	rs150247816	missense variant	-	NC_000014.9:g.60713748G>T	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu669Phe	rs150247816	missense variant	-	NC_000014.9:g.60713748G>A	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ile670Thr	rs752817146	missense variant	-	NC_000014.9:g.60713744A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Thr671Asn	rs767534744	missense variant	-	NC_000014.9:g.60713741G>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Thr671Ser	rs767534744	missense variant	-	NC_000014.9:g.60713741G>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly672Ser	rs760067456	missense variant	-	NC_000014.9:g.60713739C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Gly672Arg	rs760067456	missense variant	-	NC_000014.9:g.60713739C>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Asp674Gly	rs182231268	missense variant	-	NC_000014.9:g.60713732T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro679Ser	rs1361594601	missense variant	-	NC_000014.9:g.60713718G>A	TOPMed
SIX4	Q9UIU6	p.Pro679Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713718G>C	NCI-TCGA
SIX4	Q9UIU6	p.Met680Val	rs763418113	missense variant	-	NC_000014.9:g.60713715T>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala683Ser	rs768413478	missense variant	-	NC_000014.9:g.60713706C>A	ExAC,gnomAD
SIX4	Q9UIU6	p.Leu685Val	COSM3401378	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713700G>C	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Glu687Lys	rs796487039	missense variant	-	NC_000014.9:g.60713694C>T	gnomAD
SIX4	Q9UIU6	p.Ile688Thr	rs746676772	missense variant	-	NC_000014.9:g.60713690A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Ile688Val	rs1309421370	missense variant	-	NC_000014.9:g.60713691T>C	gnomAD
SIX4	Q9UIU6	p.Pro690Ala	rs1170377595	missense variant	-	NC_000014.9:g.60713685G>C	gnomAD
SIX4	Q9UIU6	p.Pro690His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713684G>T	NCI-TCGA
SIX4	Q9UIU6	p.Thr691Ile	rs1415602222	missense variant	-	NC_000014.9:g.60713681G>A	gnomAD
SIX4	Q9UIU6	p.Ala692Gly	rs771500878	missense variant	-	NC_000014.9:g.60713678G>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu693Gln	rs1317332309	missense variant	-	NC_000014.9:g.60713676C>G	TOPMed
SIX4	Q9UIU6	p.Gln695Ter	COSM3496670	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.60713670G>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Val696Gly	rs569357412	missense variant	-	NC_000014.9:g.60713666A>C	1000Genomes,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Val696Ala	rs569357412	missense variant	-	NC_000014.9:g.60713666A>G	1000Genomes,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.His698Tyr	rs1484017750	missense variant	-	NC_000014.9:g.60713661G>A	gnomAD
SIX4	Q9UIU6	p.Pro699Leu	rs1480301466	missense variant	-	NC_000014.9:g.60713657G>A	TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser700Thr	rs778718586	missense variant	-	NC_000014.9:g.60713655A>T	ExAC
SIX4	Q9UIU6	p.Ser700Phe	rs1252839196	missense variant	-	NC_000014.9:g.60713654G>A	gnomAD
SIX4	Q9UIU6	p.Pro701Ala	rs148735400	missense variant	-	NC_000014.9:g.60713652G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Pro701Ser	COSM4476849	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713652G>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Ala702Gly	rs764240580	missense variant	-	NC_000014.9:g.60713648G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Val703Ile	rs1203582766	missense variant	-	NC_000014.9:g.60713646C>T	gnomAD
SIX4	Q9UIU6	p.His704Arg	rs1451923246	missense variant	-	NC_000014.9:g.60713642T>C	gnomAD
SIX4	Q9UIU6	p.Asp706Gly	COSM1678023	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713636T>C	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Gln709Ter	rs1250772021	stop gained	-	NC_000014.9:g.60713628G>A	gnomAD
SIX4	Q9UIU6	p.Glu710Gln	rs777611313	missense variant	-	NC_000014.9:g.60713625C>G	ExAC,gnomAD
SIX4	Q9UIU6	p.His711Arg	rs978534509	missense variant	-	NC_000014.9:g.60713621T>C	gnomAD
SIX4	Q9UIU6	p.His711Leu	rs978534509	missense variant	-	NC_000014.9:g.60713621T>A	gnomAD
SIX4	Q9UIU6	p.Arg712Gly	rs756235258	missense variant	-	NC_000014.9:g.60713619G>C	TOPMed
SIX4	Q9UIU6	p.Arg712His	rs112624131	missense variant	-	NC_000014.9:g.60713618C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Arg712Cys	rs756235258	missense variant	-	NC_000014.9:g.60713619G>A	TOPMed
SIX4	Q9UIU6	p.Val714Leu	rs752912449	missense variant	-	NC_000014.9:g.60713613C>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Leu715Pro	rs1329557510	missense variant	-	NC_000014.9:g.60713609A>G	TOPMed,gnomAD
SIX4	Q9UIU6	p.Gln716Pro	rs1289841550	missense variant	-	NC_000014.9:g.60713606T>G	TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser717Leu	rs147121728	missense variant	-	NC_000014.9:g.60713603G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser717Trp	rs147121728	missense variant	-	NC_000014.9:g.60713603G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala719Thr	rs767010402	missense variant	-	NC_000014.9:g.60713598C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ala719Val	rs763616089	missense variant	-	NC_000014.9:g.60713597G>A	ExAC
SIX4	Q9UIU6	p.Asn720Ile	rs141843246	missense variant	-	NC_000014.9:g.60713594T>A	ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Met721Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713590C>T	NCI-TCGA
SIX4	Q9UIU6	p.Glu723Asp	rs1361457332	missense variant	-	NC_000014.9:g.60713584C>A	gnomAD
SIX4	Q9UIU6	p.Glu723Gln	COSM3815024	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713586C>G	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Glu723Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713586C>T	NCI-TCGA
SIX4	Q9UIU6	p.Phe725Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713578G>T	NCI-TCGA
SIX4	Q9UIU6	p.Phe725Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713580A>C	NCI-TCGA
SIX4	Q9UIU6	p.Ser727Pro	rs765741814	missense variant	-	NC_000014.9:g.60713574A>G	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser727Thr	rs765741814	missense variant	-	NC_000014.9:g.60713574A>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser729Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713567G>A	NCI-TCGA
SIX4	Q9UIU6	p.Ser731Arg	rs760322944	missense variant	-	NC_000014.9:g.60713560G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Ser731Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713562T>A	NCI-TCGA
SIX4	Q9UIU6	p.Thr734Ala	rs775034523	missense variant	-	NC_000014.9:g.60713553T>C	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Ser735Gly	rs1437635834	missense variant	-	NC_000014.9:g.60713550T>C	gnomAD
SIX4	Q9UIU6	p.Ser736Gly	rs771541953	missense variant	-	NC_000014.9:g.60713547T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Leu740Pro	rs1329620860	missense variant	-	NC_000014.9:g.60713534A>G	gnomAD
SIX4	Q9UIU6	p.Ser742Cys	rs773908310	missense variant	-	NC_000014.9:g.60713528G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Tyr746Ser	rs749263224	missense variant	-	NC_000014.9:g.60713516T>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Tyr746Cys	rs749263224	missense variant	-	NC_000014.9:g.60713516T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Tyr746Ter	rs777531269	stop gained	-	NC_000014.9:g.60713515A>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Val747Ala	rs769489219	missense variant	-	NC_000014.9:g.60713513A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Met751Ile	rs201271144	missense variant	-	NC_000014.9:g.60713500C>T	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Val752Ile	rs781298634	missense variant	-	NC_000014.9:g.60713499C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Asp753His	rs550629286	missense variant	-	NC_000014.9:g.60713496C>G	1000Genomes,ExAC,gnomAD
SIX4	Q9UIU6	p.Glu757Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713483T>C	NCI-TCGA
SIX4	Q9UIU6	p.Asp758Ala	rs780317817	missense variant	-	NC_000014.9:g.60713480T>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Glu760Lys	rs61741142	missense variant	-	NC_000014.9:g.60713475C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Lys763Gln	rs1363466097	missense variant	-	NC_000014.9:g.60713466T>G	TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu765Ala	rs1393235880	missense variant	-	NC_000014.9:g.60713459T>G	gnomAD
SIX4	Q9UIU6	p.Glu765ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.60713460_60713461insT	NCI-TCGA
SIX4	Q9UIU6	p.Ala767Val	COSM1477664	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.60713453G>A	NCI-TCGA Cosmic
SIX4	Q9UIU6	p.Lys768Asn	rs1159318152	missense variant	-	NC_000014.9:g.60713449C>G	gnomAD
SIX4	Q9UIU6	p.Leu769His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713447A>T	NCI-TCGA
SIX4	Q9UIU6	p.Gln770His	rs1165706420	missense variant	-	NC_000014.9:g.60713443C>A	gnomAD
SIX4	Q9UIU6	p.Leu774Val	rs765633573	missense variant	-	NC_000014.9:g.60713433G>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Asp775Asn	rs1473257688	missense variant	-	NC_000014.9:g.60713430C>T	gnomAD
SIX4	Q9UIU6	p.Asp775Glu	rs1044186320	missense variant	-	NC_000014.9:g.60713428A>C	TOPMed,gnomAD
SIX4	Q9UIU6	p.Glu776Lys	rs752347132	missense variant	-	NC_000014.9:g.60713427C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Asp777Asn	rs767056485	missense variant	-	NC_000014.9:g.60713424C>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Met778Lys	rs759274813	missense variant	-	NC_000014.9:g.60713420A>T	ExAC,gnomAD
SIX4	Q9UIU6	p.Met778Ile	rs773847226	missense variant	-	NC_000014.9:g.60713419C>T	ExAC,TOPMed,gnomAD
SIX4	Q9UIU6	p.Met778Thr	rs759274813	missense variant	-	NC_000014.9:g.60713420A>G	ExAC,gnomAD
SIX4	Q9UIU6	p.Met778Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.60713419C>A	NCI-TCGA
SIX4	Q9UIU6	p.Gln779Ter	rs1265694770	stop gained	-	NC_000014.9:g.60713418G>A	gnomAD
SIX4	Q9UIU6	p.Gln779His	rs1223227163	missense variant	-	NC_000014.9:g.60713416T>A	gnomAD
SIX4	Q9UIU6	p.Asp780Gly	rs770486222	missense variant	-	NC_000014.9:g.60713414T>C	ExAC,gnomAD
SIX4	Q9UIU6	p.Asp780Glu	rs1264571513	missense variant	-	NC_000014.9:g.60713413G>C	TOPMed
SIX4	Q9UIU6	p.Ter782Arg	rs762818013	stop lost	-	NC_000014.9:g.60713409A>G	ExAC,gnomAD
VAX2	Q9UIW0	p.Asp3Tyr	rs1258557784	missense variant	-	NC_000002.12:g.70900628G>T	TOPMed
VAX2	Q9UIW0	p.Gly5Asp	rs1215214688	missense variant	-	NC_000002.12:g.70900635G>A	TOPMed
VAX2	Q9UIW0	p.Ala6Ser	rs1335227812	missense variant	-	NC_000002.12:g.70900637G>T	TOPMed
VAX2	Q9UIW0	p.Arg8His	rs1328133234	missense variant	-	NC_000002.12:g.70900644G>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Asp9Tyr	rs1382870356	missense variant	-	NC_000002.12:g.70900646G>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Asp9Asn	rs1382870356	missense variant	-	NC_000002.12:g.70900646G>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg10Trp	rs1361421232	missense variant	-	NC_000002.12:g.70900649C>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg10Pro	rs991052057	missense variant	-	NC_000002.12:g.70900650G>C	TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala13Thr	rs1395658949	missense variant	-	NC_000002.12:g.70900658G>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala13Val	rs1553409566	missense variant	-	NC_000002.12:g.70900659C>T	gnomAD
VAX2	Q9UIW0	p.Ala13Pro	rs1395658949	missense variant	-	NC_000002.12:g.70900658G>C	TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg14His	rs782624569	missense variant	-	NC_000002.12:g.70900662G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg14Leu	rs782624569	missense variant	-	NC_000002.12:g.70900662G>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg14Cys	rs1553409568	missense variant	-	NC_000002.12:g.70900661C>T	gnomAD
VAX2	Q9UIW0	p.Arg15Gln	rs557087460	missense variant	-	NC_000002.12:g.70900665G>A	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala16Glu	rs1427372555	missense variant	-	NC_000002.12:g.70900668C>A	TOPMed
VAX2	Q9UIW0	p.Glu17Lys	rs1195096721	missense variant	-	NC_000002.12:g.70900670G>A	TOPMed
VAX2	Q9UIW0	p.Gly19Asp	rs1252073527	missense variant	-	NC_000002.12:g.70900677G>A	TOPMed
VAX2	Q9UIW0	p.Gly19Ser	rs61275549	missense variant	-	NC_000002.12:g.70900676G>A	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly21Ser	rs1207872757	missense variant	-	NC_000002.12:g.70900682G>A	TOPMed
VAX2	Q9UIW0	p.Gly22Ser	rs1553409582	missense variant	-	NC_000002.12:g.70900685G>A	gnomAD
VAX2	Q9UIW0	p.Arg24His	rs1553409588	missense variant	-	NC_000002.12:g.70900692G>A	gnomAD
VAX2	Q9UIW0	p.Arg24Gly	rs2234496	missense variant	-	NC_000002.12:g.70900691C>G	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg24Gly	rs2234496	missense variant	-	NC_000002.12:g.70900691C>G	UniProt,dbSNP
VAX2	Q9UIW0	p.Arg24Gly	VAR_067308	missense variant	-	NC_000002.12:g.70900691C>G	UniProt
VAX2	Q9UIW0	p.Cys25Ter	rs1553409590	stop gained	-	NC_000002.12:g.70900696C>A	gnomAD
VAX2	Q9UIW0	p.Gly26Glu	rs1553409591	missense variant	-	NC_000002.12:g.70900698G>A	gnomAD
VAX2	Q9UIW0	p.Gly26Ala	rs1553409591	missense variant	-	NC_000002.12:g.70900698G>C	gnomAD
VAX2	Q9UIW0	p.Gly26Arg	rs557962817	missense variant	-	NC_000002.12:g.70900697G>A	1000Genomes,ExAC,gnomAD
VAX2	Q9UIW0	p.Asp27Glu	rs1007768492	missense variant	-	NC_000002.12:g.70900702C>G	gnomAD
VAX2	Q9UIW0	p.Arg28Gly	rs1251795710	missense variant	-	NC_000002.12:g.70900703C>G	TOPMed
VAX2	Q9UIW0	p.Ala31Glu	rs1553409596	missense variant	-	NC_000002.12:g.70900713C>A	gnomAD
VAX2	Q9UIW0	p.Ala31Gly	rs1553409596	missense variant	-	NC_000002.12:g.70900713C>G	gnomAD
VAX2	Q9UIW0	p.Gly32Glu	rs1306988575	missense variant	-	NC_000002.12:g.70900716G>A	TOPMed
VAX2	Q9UIW0	p.Asp33Asn	rs1236703090	missense variant	-	NC_000002.12:g.70900718G>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg35Gln	rs782084499	missense variant	-	NC_000002.12:g.70900725G>A	ExAC,gnomAD
VAX2	Q9UIW0	p.Ala36Thr	rs1325605951	missense variant	-	NC_000002.12:g.70900727G>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly39Ser	rs782357944	missense variant	-	NC_000002.12:g.70900736G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly40Asp	rs1299236306	missense variant	-	NC_000002.12:g.70900740G>A	TOPMed
VAX2	Q9UIW0	p.Thr44Ala	rs1461971013	missense variant	-	NC_000002.12:g.70900751A>G	TOPMed,gnomAD
VAX2	Q9UIW0	p.Thr44Lys	rs966757865	missense variant	-	NC_000002.12:g.70900752C>A	gnomAD
VAX2	Q9UIW0	p.Thr44Met	rs966757865	missense variant	-	NC_000002.12:g.70900752C>T	gnomAD
VAX2	Q9UIW0	p.Val46Met	rs200413581	missense variant	-	NC_000002.12:g.70900757G>A	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala47Val	rs61753452	missense variant	-	NC_000002.12:g.70900761C>T	gnomAD
VAX2	Q9UIW0	p.Ala47Ser	rs540538576	missense variant	-	NC_000002.12:g.70900760G>T	1000Genomes,gnomAD
VAX2	Q9UIW0	p.Ala47Pro	rs540538576	missense variant	-	NC_000002.12:g.70900760G>C	1000Genomes,gnomAD
VAX2	Q9UIW0	p.Ala47Gly	rs61753452	missense variant	-	NC_000002.12:g.70900761C>G	gnomAD
VAX2	Q9UIW0	p.Thr49Ile	rs1032294407	missense variant	-	NC_000002.12:g.70900767C>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Thr49Ser	rs1032294407	missense variant	-	NC_000002.12:g.70900767C>G	TOPMed,gnomAD
VAX2	Q9UIW0	p.Ser50Leu	rs1553409622	missense variant	-	NC_000002.12:g.70900770C>T	TOPMed
VAX2	Q9UIW0	p.Ala51Thr	rs1553409624	missense variant	-	NC_000002.12:g.70900772G>A	gnomAD
VAX2	Q9UIW0	p.Pro54Ala	rs1553409629	missense variant	-	NC_000002.12:g.70900781C>G	gnomAD
VAX2	Q9UIW0	p.Pro54Leu	rs959555383	missense variant	-	NC_000002.12:g.70900782C>T	TOPMed
VAX2	Q9UIW0	p.Ala55Ser	rs782621957	missense variant	-	NC_000002.12:g.70900784G>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala55Val	rs1272490436	missense variant	-	NC_000002.12:g.70900785C>T	TOPMed
VAX2	Q9UIW0	p.Arg58Ser	rs1348746656	missense variant	-	NC_000002.12:g.70900795G>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg58Gly	rs1553409638	missense variant	-	NC_000002.12:g.70900793A>G	gnomAD
VAX2	Q9UIW0	p.Ser60Arg	rs782152782	missense variant	-	NC_000002.12:g.70900801T>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ser60Asn	rs1231422196	missense variant	-	NC_000002.12:g.70900800G>A	TOPMed
VAX2	Q9UIW0	p.Gly61Ter	rs1553409648	stop gained	-	NC_000002.12:g.70900802G>T	gnomAD
VAX2	Q9UIW0	p.Ala62Pro	rs970526624	missense variant	-	NC_000002.12:g.70900805G>C	TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala62Ser	rs970526624	missense variant	-	NC_000002.12:g.70900805G>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Asp63Gly	rs1553409658	missense variant	-	NC_000002.12:g.70900809A>G	gnomAD
VAX2	Q9UIW0	p.Asp63His	rs1553409655	missense variant	-	NC_000002.12:g.70900808G>C	gnomAD
VAX2	Q9UIW0	p.Asp65Asn	rs1553409660	missense variant	-	NC_000002.12:g.70900814G>A	gnomAD
VAX2	Q9UIW0	p.Gly66Glu	rs1374362034	missense variant	-	NC_000002.12:g.70900818G>A	TOPMed
VAX2	Q9UIW0	p.Gly66Arg	rs1314127727	missense variant	-	NC_000002.12:g.70900817G>C	TOPMed
VAX2	Q9UIW0	p.Gly66Trp	rs1314127727	missense variant	-	NC_000002.12:g.70900817G>T	TOPMed
VAX2	Q9UIW0	p.Gln67Arg	rs1170444057	missense variant	-	NC_000002.12:g.70900821A>G	TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro68Ser	rs1470992228	missense variant	-	NC_000002.12:g.70900823C>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly69Glu	rs1364104195	missense variant	-	NC_000002.12:g.70900827G>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro70Ser	rs1180829927	missense variant	-	NC_000002.12:g.70900829C>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro70Leu	rs1553409674	missense variant	-	NC_000002.12:g.70900830C>T	gnomAD
VAX2	Q9UIW0	p.Gly71Cys	rs540096264	missense variant	-	NC_000002.12:g.70900832G>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu72Lys	rs1486035052	missense variant	-	NC_000002.12:g.70900835G>A	TOPMed
VAX2	Q9UIW0	p.Cys76Arg	rs1198884062	missense variant	-	NC_000002.12:g.70900847T>C	TOPMed
VAX2	Q9UIW0	p.Cys76Ser	rs1198884062	missense variant	-	NC_000002.12:g.70900847T>A	TOPMed
VAX2	Q9UIW0	p.Arg77Cys	rs1553409684	missense variant	-	NC_000002.12:g.70900850C>T	gnomAD
VAX2	Q9UIW0	p.Arg78Leu	rs1228187768	missense variant	-	NC_000002.12:g.70900854G>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg78His	rs1228187768	missense variant	-	NC_000002.12:g.70900854G>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg78Cys	rs1553409688	missense variant	-	NC_000002.12:g.70900853C>T	gnomAD
VAX2	Q9UIW0	p.Leu80Val	rs1553409694	missense variant	-	NC_000002.12:g.70900859C>G	gnomAD
VAX2	Q9UIW0	p.Arg82Pro	rs1295618514	missense variant	-	NC_000002.12:g.70900866G>C	TOPMed
VAX2	Q9UIW0	p.Asp83Asn	rs782819912	missense variant	-	NC_000002.12:g.70900868G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Thr87Lys	rs1233621809	missense variant	-	NC_000002.12:g.70921110C>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Ile88Val	rs1345881416	missense variant	-	NC_000002.12:g.70921112A>G	TOPMed
VAX2	Q9UIW0	p.Arg89Trp	rs139950648	missense variant	-	NC_000002.12:g.70921115C>T	NCI-TCGA
VAX2	Q9UIW0	p.Arg89Gln	rs782186563	missense variant	-	NC_000002.12:g.70921116G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg89Trp	rs139950648	missense variant	-	NC_000002.12:g.70921115C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ile91Thr	rs782479662	missense variant	-	NC_000002.12:g.70921122T>C	ExAC,gnomAD
VAX2	Q9UIW0	p.Val92Ile	rs782610103	missense variant	-	NC_000002.12:g.70921124G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly96Ala	rs782389159	missense variant	-	NC_000002.12:g.70921137G>C	ExAC,gnomAD
VAX2	Q9UIW0	p.Gly96Cys	rs1553412785	missense variant	-	NC_000002.12:g.70921136G>T	gnomAD
VAX2	Q9UIW0	p.Asp98Glu	rs183938302	missense variant	-	NC_000002.12:g.70921144C>G	1000Genomes,ExAC,gnomAD
VAX2	Q9UIW0	p.Asp100Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70921148G>A	NCI-TCGA
VAX2	Q9UIW0	p.Arg101Trp	rs145801795	missense variant	-	NC_000002.12:g.70921151C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg101Gln	rs781956673	missense variant	-	NC_000002.12:g.70921152G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg104Gln	rs199781570	missense variant	-	NC_000002.12:g.70921161G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg104Trp	rs782781450	missense variant	-	NC_000002.12:g.70921160C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg106Pro	rs782807394	missense variant	-	NC_000002.12:g.70921167G>C	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg106Cys	rs782145651	missense variant	-	NC_000002.12:g.70921166C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg106Gly	rs782145651	missense variant	-	NC_000002.12:g.70921166C>G	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg106His	rs782807394	missense variant	-	NC_000002.12:g.70921167G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Phe109Leu	rs1553412802	missense variant	-	NC_000002.12:g.70921175T>C	gnomAD
VAX2	Q9UIW0	p.Glu112Lys	rs782033964	missense variant	-	NC_000002.12:g.70921184G>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Gln113His	rs782718345	missense variant	-	NC_000002.12:g.70921189G>C	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Tyr115Cys	rs782492688	missense variant	-	NC_000002.12:g.70921194A>G	ExAC,gnomAD
VAX2	Q9UIW0	p.Arg116His	rs782299811	missense variant	-	NC_000002.12:g.70921197G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg116Gly	rs145436494	missense variant	-	NC_000002.12:g.70921196C>G	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg116His	rs782299811	missense variant	-	NC_000002.12:g.70921197G>A	NCI-TCGA
VAX2	Q9UIW0	p.Arg116Cys	rs145436494	missense variant	-	NC_000002.12:g.70921196C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu120Val	rs782584966	missense variant	-	NC_000002.12:g.70921209A>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Gln122Lys	rs1553412809	missense variant	-	NC_000002.12:g.70921214C>A	gnomAD
VAX2	Q9UIW0	p.Arg123His	rs142434739	missense variant	-	NC_000002.12:g.70921218G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg123Leu	rs142434739	missense variant	-	NC_000002.12:g.70921218G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg123Cys	rs782217454	missense variant	-	NC_000002.12:g.70921217C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg123Ser	rs782217454	missense variant	-	NC_000002.12:g.70921217C>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg123Gly	rs782217454	missense variant	-	NC_000002.12:g.70921217C>G	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg123Cys	rs782217454	missense variant	-	NC_000002.12:g.70921217C>T	NCI-TCGA
VAX2	Q9UIW0	p.Arg123Ser	rs782217454	missense variant	-	NC_000002.12:g.70921217C>A	NCI-TCGA,NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Cys124Arg	rs1305179370	missense variant	-	NC_000002.12:g.70921220T>C	TOPMed,gnomAD
VAX2	Q9UIW0	p.Cys124Ser	rs781991079	missense variant	-	NC_000002.12:g.70921221G>C	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Cys124Trp	rs782263092	missense variant	-	NC_000002.12:g.70921222C>G	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Tyr126Ter	rs782406661	stop gained	-	NC_000002.12:g.70921228T>G	ExAC,gnomAD
VAX2	Q9UIW0	p.Val127Ala	rs1553412816	missense variant	-	NC_000002.12:g.70921230T>C	gnomAD
VAX2	Q9UIW0	p.Val128Met	rs1553412821	missense variant	-	NC_000002.12:g.70921232G>A	gnomAD
VAX2	Q9UIW0	p.Gly129Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70921236G>A	NCI-TCGA
VAX2	Q9UIW0	p.Arg130Cys	rs562373113	missense variant	-	NC_000002.12:g.70921238C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg130His	rs148304948	missense variant	-	NC_000002.12:g.70921239G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu131Lys	rs200582274	missense variant	-	NC_000002.12:g.70921241G>A	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu131Gly	rs782777246	missense variant	-	NC_000002.12:g.70921242A>G	ExAC,gnomAD
VAX2	Q9UIW0	p.Arg132Leu	rs782544377	missense variant	-	NC_000002.12:g.70921245G>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg132Cys	rs150176075	missense variant	-	NC_000002.12:g.70921244C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg132Cys	rs150176075	missense variant	-	NC_000002.12:g.70921244C>T	NCI-TCGA,NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Arg132His	rs782544377	missense variant	-	NC_000002.12:g.70921245G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Thr133Ile	RCV000207416	missense variant	-	NC_000002.12:g.70921248C>T	ClinVar
VAX2	Q9UIW0	p.Thr133Ile	rs869025255	missense variant	-	NC_000002.12:g.70921248C>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu135Met	rs141797280	missense variant	-	NC_000002.12:g.70921253C>A	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg137Gly	rs137915944	missense variant	-	NC_000002.12:g.70921259C>G	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg137His	rs145930788	missense variant	-	NC_000002.12:g.70921260G>A	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg137Cys	rs137915944	missense variant	-	NC_000002.12:g.70921259C>T	NCI-TCGA
VAX2	Q9UIW0	p.Arg137Cys	rs137915944	missense variant	-	NC_000002.12:g.70921259C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu139Met	rs56075602	missense variant	-	NC_000002.12:g.70921265C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Asn140Lys	rs1553412834	missense variant	-	NC_000002.12:g.70921270C>A	gnomAD
VAX2	Q9UIW0	p.Glu143Lys	rs375241285	missense variant	-	NC_000002.12:g.70921277G>A	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu143Gln	rs375241285	missense variant	-	NC_000002.12:g.70921277G>C	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Gln145Arg	rs782520076	missense variant	-	NC_000002.12:g.70921284A>G	ExAC,gnomAD
VAX2	Q9UIW0	p.Gln145Ter	COSM6158618	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.70921283C>T	NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Val148Ile	rs889638318	missense variant	-	NC_000002.12:g.70932773G>A	gnomAD
VAX2	Q9UIW0	p.Val148Phe	rs889638318	missense variant	-	NC_000002.12:g.70932773G>T	gnomAD
VAX2	Q9UIW0	p.Gln151His	rs1553414518	missense variant	-	NC_000002.12:g.70932784G>T	gnomAD
VAX2	Q9UIW0	p.Gln151Leu	rs1553414517	missense variant	-	NC_000002.12:g.70932783A>T	gnomAD
VAX2	Q9UIW0	p.Gln151Arg	rs1553414517	missense variant	-	NC_000002.12:g.70932783A>G	gnomAD
VAX2	Q9UIW0	p.Arg153Pro	rs145503713	missense variant	-	NC_000002.12:g.70932789G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg153Cys	rs782124147	missense variant	-	NC_000002.12:g.70932788C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg153His	rs145503713	missense variant	-	NC_000002.12:g.70932789G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg153Leu	rs145503713	missense variant	-	NC_000002.12:g.70932789G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg154Leu	rs782554103	missense variant	-	NC_000002.12:g.70932792G>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg154Cys	rs782569846	missense variant	-	NC_000002.12:g.70932791C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg154Gly	COSM3582884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70932791C>G	NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Arg154His	rs782554103	missense variant	-	NC_000002.12:g.70932792G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Thr155Ile	rs1450354389	missense variant	-	NC_000002.12:g.70932795C>T	TOPMed
VAX2	Q9UIW0	p.Thr155Ala	rs781797098	missense variant	-	NC_000002.12:g.70932794A>G	ExAC,gnomAD
VAX2	Q9UIW0	p.Lys156Met	rs782459139	missense variant	-	NC_000002.12:g.70932798A>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Asp160Glu	rs201302985	missense variant	-	NC_000002.12:g.70932811C>G	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Asp160Val	rs782613754	missense variant	-	NC_000002.12:g.70932810A>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Asp160Gly	rs782613754	missense variant	-	NC_000002.12:g.70932810A>G	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Gln161Lys	rs782667630	missense variant	-	NC_000002.12:g.70932812C>A	ExAC,gnomAD
VAX2	Q9UIW0	p.Gln161Arg	rs1010233114	missense variant	-	NC_000002.12:g.70932813A>G	TOPMed
VAX2	Q9UIW0	p.Ser162Asn	COSM1409225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70932816G>A	NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Asp164Tyr	rs1160375795	missense variant	-	NC_000002.12:g.70932821G>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu165Pro	rs145701453	missense variant	-	NC_000002.12:g.70932825T>C	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu165Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70932825T>A	NCI-TCGA
VAX2	Q9UIW0	p.Glu166ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.70932826G>-	NCI-TCGA
VAX2	Q9UIW0	p.Glu166Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70932827G>C	NCI-TCGA
VAX2	Q9UIW0	p.Glu166Val	rs368226464	missense variant	-	NC_000002.12:g.70932828A>T	ESP,TOPMed
VAX2	Q9UIW0	p.Arg168Trp	rs202064044	missense variant	-	NC_000002.12:g.70932833C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg168Pro	rs782009506	missense variant	-	NC_000002.12:g.70932834G>C	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg168Leu	rs782009506	missense variant	-	NC_000002.12:g.70932834G>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg168Gly	rs202064044	missense variant	-	NC_000002.12:g.70932833C>G	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg168Gln	rs782009506	missense variant	-	NC_000002.12:g.70932834G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala169Glu	rs566985371	missense variant	-	NC_000002.12:g.70932837C>A	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala169Val	rs566985371	missense variant	-	NC_000002.12:g.70932837C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ser172Thr	rs1315031014	missense variant	-	NC_000002.12:g.70932845T>A	TOPMed
VAX2	Q9UIW0	p.Ala173Asp	rs782054607	missense variant	-	NC_000002.12:g.70932849C>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu175Lys	rs781832386	missense variant	-	NC_000002.12:g.70932854G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu175Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70932855A>G	NCI-TCGA
VAX2	Q9UIW0	p.Glu175Asp	rs782501912	missense variant	-	NC_000002.12:g.70932856G>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ile182Phe	rs782777741	missense variant	-	NC_000002.12:g.70932875A>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Ile182Thr	rs781890843	missense variant	-	NC_000002.12:g.70932876T>C	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu183Met	rs782551077	missense variant	-	NC_000002.12:g.70932878C>A	ExAC,gnomAD
VAX2	Q9UIW0	p.Leu183Val	rs782551077	missense variant	-	NC_000002.12:g.70932878C>G	ExAC,gnomAD
VAX2	Q9UIW0	p.Leu183Pro	rs1553414543	missense variant	-	NC_000002.12:g.70932879T>C	gnomAD
VAX2	Q9UIW0	p.Arg184Trp	rs201863357	missense variant	-	NC_000002.12:g.70932881C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg184Gln	rs782482672	missense variant	-	NC_000002.12:g.70932882G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu187Gln	rs782644188	missense variant	-	NC_000002.12:g.70932890G>C	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu187Lys	rs782644188	missense variant	-	NC_000002.12:g.70932890G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly189Ser	rs1445776477	missense variant	-	NC_000002.12:g.70932896G>A	TOPMed
VAX2	Q9UIW0	p.Arg190Trp	rs782410771	missense variant	-	NC_000002.12:g.70932899C>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Arg190Gln	rs782043630	missense variant	-	NC_000002.12:g.70932900G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Val194Glu	rs782093774	missense variant	-	NC_000002.12:g.70932912T>A	ExAC,gnomAD
VAX2	Q9UIW0	p.Arg196Lys	rs1553414557	missense variant	-	NC_000002.12:g.70932918G>A	gnomAD
VAX2	Q9UIW0	p.Ala197Val	rs972351853	missense variant	-	NC_000002.12:g.70932921C>T	gnomAD
VAX2	Q9UIW0	p.Ala197Ser	rs782001053	missense variant	-	NC_000002.12:g.70932920G>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala197Asp	rs972351853	missense variant	-	NC_000002.12:g.70932921C>A	gnomAD
VAX2	Q9UIW0	p.Ser199Arg	rs1553414559	missense variant	-	NC_000002.12:g.70932928C>A	gnomAD
VAX2	Q9UIW0	p.Ser199Ter	NCI-TCGA novel	frameshift	-	NC_000002.12:g.70932920_70932921insC	NCI-TCGA
VAX2	Q9UIW0	p.Leu200Phe	COSM1409227	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70932929C>T	NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Leu201Gln	rs782811399	missense variant	-	NC_000002.12:g.70932933T>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu201Pro	rs782811399	missense variant	-	NC_000002.12:g.70932933T>C	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala202Val	rs369829011	missense variant	-	NC_000002.12:g.70932936C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala202Gly	rs369829011	missense variant	-	NC_000002.12:g.70932936C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala202Glu	rs369829011	missense variant	-	NC_000002.12:g.70932936C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Thr204Ile	rs1222142186	missense variant	-	NC_000002.12:g.70932942C>T	TOPMed,gnomAD
VAX2	Q9UIW0	p.Thr204Asn	rs1222142186	missense variant	-	NC_000002.12:g.70932942C>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro205Arg	rs1358648898	missense variant	-	NC_000002.12:g.70932945C>G	TOPMed
VAX2	Q9UIW0	p.Pro205Ser	rs1553414566	missense variant	-	NC_000002.12:g.70932944C>T	gnomAD
VAX2	Q9UIW0	p.Ser206Ile	rs1367597014	missense variant	-	NC_000002.12:g.70932948G>T	TOPMed
VAX2	Q9UIW0	p.Ser206Arg	rs1296617185	missense variant	-	NC_000002.12:g.70932949C>A	TOPMed
VAX2	Q9UIW0	p.Leu207Pro	rs375782827	missense variant	-	NC_000002.12:g.70932951T>C	gnomAD
VAX2	Q9UIW0	p.Pro208Ser	rs143185254	missense variant	-	NC_000002.12:g.70932953C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly209AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.70932956G>-	NCI-TCGA
VAX2	Q9UIW0	p.Leu210Gln	rs2234498	missense variant	-	NC_000002.12:g.70932960T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu210Pro	rs2234498	missense variant	-	NC_000002.12:g.70932960T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro211His	rs782207406	missense variant	-	NC_000002.12:g.70932963C>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala212Pro	rs1425797414	missense variant	-	NC_000002.12:g.70932965G>C	TOPMed,gnomAD
VAX2	Q9UIW0	p.Ser213Asn	rs568822005	missense variant	-	NC_000002.12:g.70932969G>A	1000Genomes,ExAC,gnomAD
VAX2	Q9UIW0	p.His214Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70932971C>T	NCI-TCGA
VAX2	Q9UIW0	p.Gly216Arg	rs1450847283	missense variant	-	NC_000002.12:g.70932977G>C	TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly216Asp	rs781980710	missense variant	-	NC_000002.12:g.70932978G>A	ExAC
VAX2	Q9UIW0	p.Thr217Ile	rs372789757	missense variant	-	NC_000002.12:g.70932981C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ser218Pro	rs1553414577	missense variant	-	NC_000002.12:g.70932983T>C	gnomAD
VAX2	Q9UIW0	p.Ser218Phe	COSM1022554	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70932984C>T	NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Leu219Phe	rs142431637	missense variant	-	NC_000002.12:g.70932988A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu219Phe	rs142431637	missense variant	-	NC_000002.12:g.70932988A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Asn224Ser	rs1553414583	missense variant	-	NC_000002.12:g.70933002A>G	gnomAD
VAX2	Q9UIW0	p.Ser226Tyr	rs781965616	missense variant	-	NC_000002.12:g.70933008C>A	ExAC,gnomAD
VAX2	Q9UIW0	p.Pro227Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.70933011C>T	NCI-TCGA
VAX2	Q9UIW0	p.Pro227Gln	rs1553414587	missense variant	-	NC_000002.12:g.70933011C>A	TOPMed
VAX2	Q9UIW0	p.Arg228Pro	rs2234499	missense variant	-	NC_000002.12:g.70933014G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg228Leu	rs2234499	missense variant	-	NC_000002.12:g.70933014G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg228His	rs2234499	missense variant	-	NC_000002.12:g.70933014G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg228Gly	rs537419945	missense variant	-	NC_000002.12:g.70933013C>G	ExAC,TOPMed
VAX2	Q9UIW0	p.Arg228Cys	rs537419945	missense variant	-	NC_000002.12:g.70933013C>T	ExAC,TOPMed
VAX2	Q9UIW0	p.Leu229Phe	rs1553414596	missense variant	-	NC_000002.12:g.70933016C>T	gnomAD
VAX2	Q9UIW0	p.Pro231Thr	rs1289552116	missense variant	-	NC_000002.12:g.70933022C>A	TOPMed
VAX2	Q9UIW0	p.Pro231Gln	rs376990356	missense variant	-	NC_000002.12:g.70933023C>A	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro231Leu	rs376990356	missense variant	-	NC_000002.12:g.70933023C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ser233Phe	COSM3582887	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70933029C>T	NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Ser234Leu	rs781959585	missense variant	-	NC_000002.12:g.70933032C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ser236Leu	COSM4850620	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70933038C>T	NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Ala237Val	rs782586068	missense variant	-	NC_000002.12:g.70933041C>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Ser238Cys	rs555134830	missense variant	-	NC_000002.12:g.70933044C>G	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ser238Phe	rs555134830	missense variant	-	NC_000002.12:g.70933044C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro239Leu	rs781925092	missense variant	-	NC_000002.12:g.70933047C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro239Ser	rs782438202	missense variant	-	NC_000002.12:g.70933046C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro239His	rs781925092	missense variant	-	NC_000002.12:g.70933047C>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro240Gln	rs140956448	missense variant	-	NC_000002.12:g.70933050C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro240Ala	rs368886091	missense variant	-	NC_000002.12:g.70933049C>G	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro240Arg	rs140956448	missense variant	-	NC_000002.12:g.70933050C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro240Ser	rs368886091	missense variant	-	NC_000002.12:g.70933049C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro240Leu	rs140956448	missense variant	-	NC_000002.12:g.70933050C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro240HisPheSerTerUnkUnk	rs782563368	frameshift	-	NC_000002.12:g.70933044C>-	NCI-TCGA,NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Leu241ThrPheSerTerUnkUnk	rs782186760	frameshift	-	NC_000002.12:g.70933043_70933044insC	NCI-TCGA
VAX2	Q9UIW0	p.Pro242Leu	rs183405602	missense variant	-	NC_000002.12:g.70933056C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro243Ser	rs781806609	missense variant	-	NC_000002.12:g.70933058C>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Pro243Leu	rs782497083	missense variant	-	NC_000002.12:g.70933059C>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Pro244Ser	rs782265939	missense variant	-	NC_000002.12:g.70933061C>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Pro244LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.70933058C>-	NCI-TCGA
VAX2	Q9UIW0	p.Pro246Arg	rs782408546	missense variant	-	NC_000002.12:g.70933068C>G	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Val248Leu	rs149973402	missense variant	-	NC_000002.12:g.70933073G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Cys249Trp	rs1389215963	missense variant	-	NC_000002.12:g.70933078C>G	TOPMed
VAX2	Q9UIW0	p.Phe250Ser	rs1403872982	missense variant	-	NC_000002.12:g.70933080T>C	TOPMed,gnomAD
VAX2	Q9UIW0	p.Phe250Val	rs1553414618	missense variant	-	NC_000002.12:g.70933079T>G	gnomAD
VAX2	Q9UIW0	p.Ser251Phe	rs1553414625	missense variant	-	NC_000002.12:g.70933083C>T	gnomAD
VAX2	Q9UIW0	p.Ser251Pro	rs1553414621	missense variant	-	NC_000002.12:g.70933082T>C	gnomAD
VAX2	Q9UIW0	p.Ser252Leu	rs1176779419	missense variant	-	NC_000002.12:g.70933086C>T	TOPMed
VAX2	Q9UIW0	p.Ser252Pro	rs1553414626	missense variant	-	NC_000002.12:g.70933085T>C	gnomAD
VAX2	Q9UIW0	p.Ala253Asp	rs781962814	missense variant	-	NC_000002.12:g.70933089C>A	ExAC,gnomAD
VAX2	Q9UIW0	p.Pro254Leu	rs2234500	missense variant	-	NC_000002.12:g.70933092C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro254Gln	rs2234500	missense variant	-	NC_000002.12:g.70933092C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro254Arg	rs2234500	missense variant	-	NC_000002.12:g.70933092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Pro254Arg	rs2234500	missense variant	-	NC_000002.12:g.70933092C>G	UniProt,dbSNP
VAX2	Q9UIW0	p.Pro254Arg	VAR_020152	missense variant	-	NC_000002.12:g.70933092C>G	UniProt
VAX2	Q9UIW0	p.Pro254Ser	rs782368731	missense variant	-	NC_000002.12:g.70933091C>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu255Phe	rs200750550	missense variant	-	NC_000002.12:g.70933094C>T	1000Genomes,ExAC,gnomAD
VAX2	Q9UIW0	p.Leu256Arg	rs1461048464	missense variant	-	NC_000002.12:g.70933098T>G	TOPMed
VAX2	Q9UIW0	p.Asp257Asn	rs1553414639	missense variant	-	NC_000002.12:g.70933100G>A	gnomAD
VAX2	Q9UIW0	p.Asp257Glu	COSM4095386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.70933102T>A	NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Pro259His	rs782080953	missense variant	-	NC_000002.12:g.70933107C>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly261Ser	rs527794817	missense variant	-	NC_000002.12:g.70933112G>A	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Gly261Val	rs781854813	missense variant	-	NC_000002.12:g.70933113G>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Tyr262His	rs782514299	missense variant	-	NC_000002.12:g.70933115T>C	ExAC,gnomAD
VAX2	Q9UIW0	p.Glu263Ter	rs781910150	stop gained	-	NC_000002.12:g.70933118G>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu263Lys	rs781910150	missense variant	-	NC_000002.12:g.70933118G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu263Gln	rs781910150	missense variant	-	NC_000002.12:g.70933118G>C	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Leu264Met	rs1553414648	missense variant	-	NC_000002.12:g.70933121C>A	gnomAD
VAX2	Q9UIW0	p.Gly265Ser	rs782213520	missense variant	-	NC_000002.12:g.70933124G>A	ExAC,gnomAD
VAX2	Q9UIW0	p.Gly265Cys	rs782213520	missense variant	-	NC_000002.12:g.70933124G>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Ser266Pro	rs377703915	missense variant	-	NC_000002.12:g.70933127T>C	ExAC,gnomAD
VAX2	Q9UIW0	p.Ser266Ala	rs377703915	missense variant	-	NC_000002.12:g.70933127T>G	ExAC,gnomAD
VAX2	Q9UIW0	p.Ser267Leu	rs141208791	missense variant	-	NC_000002.12:g.70933131C>T	ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ala268Gly	rs782181165	missense variant	-	NC_000002.12:g.70933134C>G	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Phe269Leu	rs1553414655	missense variant	-	NC_000002.12:g.70933136T>C	gnomAD
VAX2	Q9UIW0	p.Glu270Asp	rs782327273	missense variant	-	NC_000002.12:g.70933141G>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Glu270Lys	rs943795899	missense variant	-	NC_000002.12:g.70933139G>A	TOPMed,gnomAD
VAX2	Q9UIW0	p.Tyr272Ter	rs781955018	stop gained	-	NC_000002.12:g.70933147C>G	ExAC,gnomAD
VAX2	Q9UIW0	p.Tyr272His	rs1553414659	missense variant	-	NC_000002.12:g.70933145T>C	gnomAD
VAX2	Q9UIW0	p.Ser273Arg	rs1553414661	missense variant	-	NC_000002.12:g.70933150C>A	gnomAD
VAX2	Q9UIW0	p.Ser273Cys	rs782111576	missense variant	-	NC_000002.12:g.70933148A>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Trp274Cys	rs782793917	missense variant	-	NC_000002.12:g.70933153G>T	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Glu276Lys	rs782163417	missense variant	-	NC_000002.12:g.70933157G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg277Trp	rs200587085	missense variant	-	NC_000002.12:g.70933160C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg277Gln	rs782753663	missense variant	-	NC_000002.12:g.70933161G>A	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Arg277Gly	rs200587085	missense variant	-	NC_000002.12:g.70933160C>G	1000Genomes,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Lys278Arg	rs1553414671	missense variant	-	NC_000002.12:g.70933164A>G	gnomAD
VAX2	Q9UIW0	p.Val279Ala	rs1241574984	missense variant	-	NC_000002.12:g.70933167T>C	TOPMed
VAX2	Q9UIW0	p.Ser281Ile	rs1553414672	missense variant	-	NC_000002.12:g.70933173G>T	gnomAD
VAX2	Q9UIW0	p.Ala282Val	rs782669289	missense variant	-	NC_000002.12:g.70933176C>T	ExAC,gnomAD
VAX2	Q9UIW0	p.Ala282Thr	rs147336899	missense variant	-	NC_000002.12:g.70933175G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Ser284Arg	rs1553414677	missense variant	-	NC_000002.12:g.70933183C>A	TOPMed
VAX2	Q9UIW0	p.Cys285Arg	rs1284173116	missense variant	-	NC_000002.12:g.70933184T>C	TOPMed,gnomAD
VAX2	Q9UIW0	p.Lys286Ter	COSM6158616	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.70933187A>T	NCI-TCGA Cosmic
VAX2	Q9UIW0	p.Ala288Pro	rs782285943	missense variant	-	NC_000002.12:g.70933193G>C	ExAC,TOPMed,gnomAD
VAX2	Q9UIW0	p.Thr290Ile	rs1362234809	missense variant	-	NC_000002.12:g.70933200C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala2Thr	rs1357987642	missense variant	-	NC_000014.9:g.31205933C>T	gnomAD
HECTD1	Q9ULT8	p.Asp3His	rs968038537	missense variant	-	NC_000014.9:g.31205930C>G	TOPMed
HECTD1	Q9ULT8	p.Val4Met	rs755264541	missense variant	-	NC_000014.9:g.31205927C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu9Phe	rs751742308	missense variant	-	NC_000014.9:g.31205910C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln14His	rs764174252	missense variant	-	NC_000014.9:g.31205895C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly16Glu	rs760672938	missense variant	-	NC_000014.9:g.31205890C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met23Ile	rs891402149	missense variant	-	NC_000014.9:g.31205868C>T	TOPMed
HECTD1	Q9ULT8	p.Gln24Glu	rs775489494	missense variant	-	NC_000014.9:g.31205867G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile26Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31205861T>G	NCI-TCGA
HECTD1	Q9ULT8	p.Ala27Ser	rs759276303	missense variant	-	NC_000014.9:g.31205858C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala27Val	rs774004940	missense variant	-	NC_000014.9:g.31205857G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu28Phe	COSM3401287	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31205855G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Met37Val	rs371543287	missense variant	-	NC_000014.9:g.31205828T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser38Cys	rs770345112	missense variant	-	NC_000014.9:g.31205824G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg43Ser	rs1331704540	missense variant	-	NC_000014.9:g.31205810G>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe45Cys	rs748653003	missense variant	-	NC_000014.9:g.31205803A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr47Arg	COSM433003	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31205797G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Cys48Phe	rs1298909949	missense variant	-	NC_000014.9:g.31178252C>A	gnomAD
HECTD1	Q9ULT8	p.Pro50Thr	COSM1323514	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31178247G>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg51His	rs769042936	missense variant	-	NC_000014.9:g.31178243C>T	ExAC
HECTD1	Q9ULT8	p.Thr52Ala	rs1357433153	missense variant	-	NC_000014.9:g.31178241T>C	gnomAD
HECTD1	Q9ULT8	p.Phe53Tyr	rs780265122	missense variant	-	NC_000014.9:g.31178237A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu54Ser	rs1436485905	missense variant	-	NC_000014.9:g.31178234A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro55Ser	rs1260600161	missense variant	-	NC_000014.9:g.31178232G>A	TOPMed
HECTD1	Q9ULT8	p.Leu62Ile	COSM955275	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31178211G>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu64Lys	rs746008215	missense variant	-	NC_000014.9:g.31178205C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala66Gly	rs779146625	missense variant	-	NC_000014.9:g.31178198G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn69Ser	rs757361288	missense variant	-	NC_000014.9:g.31178189T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn69Ile	rs757361288	missense variant	-	NC_000014.9:g.31178189T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu72Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31178179C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Arg76His	rs754849406	missense variant	-	NC_000014.9:g.31178168C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg76Cys	rs781317618	missense variant	-	NC_000014.9:g.31178169G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala77Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31178166C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ile78Met	rs910987727	missense variant	-	NC_000014.9:g.31178161T>C	TOPMed
HECTD1	Q9ULT8	p.Ile78Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31178163T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Thr79Lys	rs1285807223	missense variant	-	NC_000014.9:g.31178159G>T	gnomAD
HECTD1	Q9ULT8	p.Thr79Ala	rs751429096	missense variant	-	NC_000014.9:g.31178160T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala86Val	rs1307980432	missense variant	-	NC_000014.9:g.31178138G>A	gnomAD
HECTD1	Q9ULT8	p.Arg90Gln	rs1377138557	missense variant	-	NC_000014.9:g.31178126C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg90Ter	rs1171266727	stop gained	-	NC_000014.9:g.31178127G>A	TOPMed
HECTD1	Q9ULT8	p.Gly94Val	rs1286003091	missense variant	-	NC_000014.9:g.31178114C>A	gnomAD
HECTD1	Q9ULT8	p.Val95Ile	rs1376024973	missense variant	-	NC_000014.9:g.31178112C>T	gnomAD
HECTD1	Q9ULT8	p.Ile99Met	rs1417647846	missense variant	-	NC_000014.9:g.31178098T>C	gnomAD
HECTD1	Q9ULT8	p.Ile99Val	rs1297454875	missense variant	-	NC_000014.9:g.31178100T>C	gnomAD
HECTD1	Q9ULT8	p.Arg105His	rs1175145295	missense variant	-	NC_000014.9:g.31178081C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg105Gly	rs377423641	missense variant	-	NC_000014.9:g.31178082G>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg105Cys	rs377423641	missense variant	-	NC_000014.9:g.31178082G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu106Phe	rs1452174541	missense variant	-	NC_000014.9:g.31178077C>A	gnomAD
HECTD1	Q9ULT8	p.Val107Ile	rs1450497479	missense variant	-	NC_000014.9:g.31178076C>T	TOPMed
HECTD1	Q9ULT8	p.Val108Leu	rs1159468315	missense variant	-	NC_000014.9:g.31178073C>G	gnomAD
HECTD1	Q9ULT8	p.Leu111Phe	rs1252839664	missense variant	-	NC_000014.9:g.31178064G>A	gnomAD
HECTD1	Q9ULT8	p.Asn113Ser	COSM955272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31178057T>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asn113Lys	rs769259996	missense variant	-	NC_000014.9:g.31178056G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr115Ile	rs761079916	missense variant	-	NC_000014.9:g.31178051G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser116Arg	rs775924105	missense variant	-	NC_000014.9:g.31178047G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu121Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31178034C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Lys125Asn	rs779236772	missense variant	-	NC_000014.9:g.31178020C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys131Arg	rs373938352	missense variant	-	NC_000014.9:g.31175123A>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Cys131Ser	rs373938352	missense variant	-	NC_000014.9:g.31175123A>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg133Cys	rs1386033074	missense variant	-	NC_000014.9:g.31175117G>A	gnomAD
HECTD1	Q9ULT8	p.Arg133His	rs1365139543	missense variant	-	NC_000014.9:g.31175116C>T	gnomAD
HECTD1	Q9ULT8	p.Ala141Val	rs1366925392	missense variant	-	NC_000014.9:g.31175092G>A	TOPMed
HECTD1	Q9ULT8	p.Ala141Ser	rs746991269	missense variant	-	NC_000014.9:g.31175093C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly142Asp	rs779819825	missense variant	-	NC_000014.9:g.31175089C>T	ExAC,TOPMed
HECTD1	Q9ULT8	p.Cys146Ser	rs1316166729	missense variant	-	NC_000014.9:g.31175077C>G	gnomAD
HECTD1	Q9ULT8	p.Thr149Ile	rs557388730	missense variant	-	NC_000014.9:g.31175068G>A	1000Genomes
HECTD1	Q9ULT8	p.Phe150Leu	rs753427362	missense variant	-	NC_000014.9:g.31175064G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Phe150Leu	rs947748658	missense variant	-	NC_000014.9:g.31175066A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg152Cys	rs920316638	missense variant	-	NC_000014.9:g.31175060G>A	gnomAD
HECTD1	Q9ULT8	p.Arg152His	rs199851699	missense variant	-	NC_000014.9:g.31175059C>T	gnomAD
HECTD1	Q9ULT8	p.His156Arg	rs755537481	missense variant	-	NC_000014.9:g.31175047T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu157Val	rs1282132072	missense variant	-	NC_000014.9:g.31175045G>C	TOPMed
HECTD1	Q9ULT8	p.Leu157Arg	rs752220141	missense variant	-	NC_000014.9:g.31175044A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp161Asn	rs760107123	missense variant	-	NC_000014.9:g.31175033C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.His164Gln	rs766784775	missense variant	-	NC_000014.9:g.31175022G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser165Phe	COSM5596835	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31175020G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ala166Thr	rs1394080835	missense variant	-	NC_000014.9:g.31175018C>T	gnomAD
HECTD1	Q9ULT8	p.Met167Val	rs1305324312	missense variant	-	NC_000014.9:g.31175015T>C	gnomAD
HECTD1	Q9ULT8	p.Met167Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31175013C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ala168Val	rs1216593230	missense variant	-	NC_000014.9:g.31175011G>A	TOPMed
HECTD1	Q9ULT8	p.Val169Gly	rs201192053	missense variant	-	NC_000014.9:g.31175008A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val170Ala	rs773261934	missense variant	-	NC_000014.9:g.31175005A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val170Gly	rs773261934	missense variant	-	NC_000014.9:g.31175005A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser171Leu	COSM4824286	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31175002G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Cys174Phe	rs1168088104	missense variant	-	NC_000014.9:g.31174993C>A	gnomAD
HECTD1	Q9ULT8	p.Gln180Glu	COSM4824140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31174976G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asp181Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31174973C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ile186Val	rs1464972687	missense variant	-	NC_000014.9:g.31174958T>C	gnomAD
HECTD1	Q9ULT8	p.Cys187Arg	rs1479249132	missense variant	-	NC_000014.9:g.31174955A>G	TOPMed
HECTD1	Q9ULT8	p.Val188Leu	rs748220289	missense variant	-	NC_000014.9:g.31174952C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser190Ala	rs776754195	missense variant	-	NC_000014.9:g.31174946A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser193Gly	rs1439432421	missense variant	-	NC_000014.9:g.31174937T>C	gnomAD
HECTD1	Q9ULT8	p.His197Tyr	rs748262676	missense variant	-	NC_000014.9:g.31174925G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp199Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31174919C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Gln201Arg	rs1419812863	missense variant	-	NC_000014.9:g.31174912T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser203Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173802G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Asp204Gly	rs1206579018	missense variant	-	NC_000014.9:g.31173799T>C	gnomAD
HECTD1	Q9ULT8	p.Ala206Gly	rs750772670	missense variant	-	NC_000014.9:g.31173793G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg208Ter	rs1355980674	stop gained	-	NC_000014.9:g.31173788G>A	gnomAD
HECTD1	Q9ULT8	p.Phe210Leu	rs1230953179	missense variant	-	NC_000014.9:g.31173782A>G	gnomAD
HECTD1	Q9ULT8	p.Phe210Ser	rs1356753285	missense variant	-	NC_000014.9:g.31173781A>G	gnomAD
HECTD1	Q9ULT8	p.Ala211Thr	rs765429669	missense variant	-	NC_000014.9:g.31173779C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala211Val	rs762086563	missense variant	-	NC_000014.9:g.31173778G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala211Pro	rs765429669	missense variant	-	NC_000014.9:g.31173779C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu213Val	rs1182294103	missense variant	-	NC_000014.9:g.31173773G>C	TOPMed
HECTD1	Q9ULT8	p.Ala214Ser	rs768662476	missense variant	-	NC_000014.9:g.31173770C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala214Thr	rs768662476	missense variant	-	NC_000014.9:g.31173770C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe217Leu	rs1162349492	missense variant	-	NC_000014.9:g.31173761A>G	TOPMed
HECTD1	Q9ULT8	p.Arg219Cys	rs1161621384	missense variant	-	NC_000014.9:g.31173755G>A	gnomAD
HECTD1	Q9ULT8	p.Arg219Ser	rs1161621384	missense variant	-	NC_000014.9:g.31173755G>T	gnomAD
HECTD1	Q9ULT8	p.Arg220Pro	rs770821753	missense variant	-	NC_000014.9:g.31173751C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg220Cys	rs1463082528	missense variant	-	NC_000014.9:g.31173752G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg220His	rs770821753	missense variant	-	NC_000014.9:g.31173751C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly221Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173748C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Val222Ile	rs749085670	missense variant	-	NC_000014.9:g.31173746C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.His230Arg	rs769399672	missense variant	-	NC_000014.9:g.31173721T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu234Gly	rs780863986	missense variant	-	NC_000014.9:g.31173709T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu234Ala	rs780863986	missense variant	-	NC_000014.9:g.31173709T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu234Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173710C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Glu235Gln	rs368167266	missense variant	-	NC_000014.9:g.31173707C>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu236Met	rs1211365515	missense variant	-	NC_000014.9:g.31173704G>T	gnomAD
HECTD1	Q9ULT8	p.Ser238Pro	rs1244331041	missense variant	-	NC_000014.9:g.31173698A>G	TOPMed
HECTD1	Q9ULT8	p.Ser238Phe	rs780749251	missense variant	-	NC_000014.9:g.31173697G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg239Gln	COSM5644639	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173694C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg239Pro	rs758956415	missense variant	-	NC_000014.9:g.31173694C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met240Thr	rs750814103	missense variant	-	NC_000014.9:g.31173691A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala241Gly	rs1272379275	missense variant	-	NC_000014.9:g.31173688G>C	gnomAD
HECTD1	Q9ULT8	p.Ala242Thr	rs765566192	missense variant	-	NC_000014.9:g.31173686C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala243Gly	rs761950733	missense variant	-	NC_000014.9:g.31173682G>C	ExAC,TOPMed
HECTD1	Q9ULT8	p.Gly244Ala	rs769560642	missense variant	-	NC_000014.9:g.31173679C>G	TOPMed
HECTD1	Q9ULT8	p.Gly244Val	rs769560642	missense variant	-	NC_000014.9:g.31173679C>A	TOPMed
HECTD1	Q9ULT8	p.Gly245Ser	rs530361249	missense variant	-	NC_000014.9:g.31173677C>T	1000Genomes
HECTD1	Q9ULT8	p.Thr246Ala	rs1274484679	missense variant	-	NC_000014.9:g.31173674T>C	TOPMed
HECTD1	Q9ULT8	p.Val247Ile	rs1394856116	missense variant	-	NC_000014.9:g.31173671C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val247Phe	rs1394856116	missense variant	-	NC_000014.9:g.31173671C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser248Thr	rs754039409	missense variant	-	NC_000014.9:g.31173668A>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly249Arg	rs764188042	missense variant	-	NC_000014.9:g.31173665C>T	ExAC
HECTD1	Q9ULT8	p.Ala253Val	rs559636254	missense variant	-	NC_000014.9:g.31173652G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala253Thr	rs1330727288	missense variant	-	NC_000014.9:g.31173653C>T	gnomAD
HECTD1	Q9ULT8	p.Arg258Ser	rs1169523562	missense variant	-	NC_000014.9:g.31173638G>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg258His	rs1475623242	missense variant	-	NC_000014.9:g.31173637C>T	gnomAD
HECTD1	Q9ULT8	p.Arg258Pro	rs1475623242	missense variant	-	NC_000014.9:g.31173637C>G	gnomAD
HECTD1	Q9ULT8	p.Arg258Cys	rs1169523562	missense variant	-	NC_000014.9:g.31173638G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser259Gly	rs772887598	missense variant	-	NC_000014.9:g.31173635T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr260Ala	rs1469506800	missense variant	-	NC_000014.9:g.31173632T>C	gnomAD
HECTD1	Q9ULT8	p.Gly262Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31173626C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Pro264Ser	rs1197480746	missense variant	-	NC_000014.9:g.31173620G>A	gnomAD
HECTD1	Q9ULT8	p.Thr266Ile	rs747779930	missense variant	-	NC_000014.9:g.31173613G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr266IlePheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31173613_31173614insCCTTTCTTATAGTGTCAGTA	NCI-TCGA
HECTD1	Q9ULT8	p.Asp269Glu	rs780953774	missense variant	-	NC_000014.9:g.31173603A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser270Cys	rs746570962	missense variant	-	NC_000014.9:g.31173601G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser270Ala	rs768394767	missense variant	-	NC_000014.9:g.31173602A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys271Arg	rs1236823878	missense variant	-	NC_000014.9:g.31173598T>C	gnomAD
HECTD1	Q9ULT8	p.Gln275His	rs758830368	missense variant	-	NC_000014.9:g.31173585C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile279Val	rs376479630	missense variant	-	NC_000014.9:g.31173575T>C	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val280Leu	rs757599875	missense variant	-	NC_000014.9:g.31173572C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu283Phe	rs776378066	missense variant	-	NC_000014.9:g.31173563G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr285Ser	COSM3495681	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173557T>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Thr285Ile	rs1374666287	missense variant	-	NC_000014.9:g.31173556G>A	gnomAD
HECTD1	Q9ULT8	p.Gly289Cys	rs1233459661	missense variant	-	NC_000014.9:g.31173545C>A	gnomAD
HECTD1	Q9ULT8	p.Pro291Gln	rs767519029	missense variant	-	NC_000014.9:g.31173538G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro291Leu	rs767519029	missense variant	-	NC_000014.9:g.31173538G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr294Ala	rs762813133	missense variant	-	NC_000014.9:g.31173530T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His295Arg	rs1205891895	missense variant	-	NC_000014.9:g.31173526T>C	gnomAD
HECTD1	Q9ULT8	p.Leu297Phe	COSM3495680	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173423G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Leu298Gln	rs1262908036	missense variant	-	NC_000014.9:g.31173419A>T	gnomAD
HECTD1	Q9ULT8	p.Ser300Leu	rs756333643	missense variant	-	NC_000014.9:g.31173413G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu301Asp	rs767518218	missense variant	-	NC_000014.9:g.31173409C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu301Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31173411_31173412insTTAAGTCCAGGCACCGTGGCTCA	NCI-TCGA
HECTD1	Q9ULT8	p.Asp304Glu	rs751564416	missense variant	-	NC_000014.9:g.31173400A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp304Gly	rs565368987	missense variant	-	NC_000014.9:g.31173401T>C	1000Genomes
HECTD1	Q9ULT8	p.Asp304Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173402C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Ser308Gly	rs374471717	missense variant	-	NC_000014.9:g.31173390T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser308Thr	rs761832448	missense variant	-	NC_000014.9:g.31173389C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln311Glu	rs371330817	missense variant	-	NC_000014.9:g.31173381G>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp313Val	rs1346625398	missense variant	-	NC_000014.9:g.31173374T>A	gnomAD
HECTD1	Q9ULT8	p.Arg315Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173367T>G	NCI-TCGA
HECTD1	Q9ULT8	p.Val317Ala	rs771590581	missense variant	-	NC_000014.9:g.31173362A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val317Leu	COSM697974	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173363C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Thr320Ile	rs1167816610	missense variant	-	NC_000014.9:g.31173353G>A	gnomAD
HECTD1	Q9ULT8	p.Thr320Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173354T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Met321Val	rs1475810017	missense variant	-	NC_000014.9:g.31173351T>C	gnomAD
HECTD1	Q9ULT8	p.Arg322Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173348G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Val324Phe	rs1261589657	missense variant	-	NC_000014.9:g.31173342C>A	gnomAD
HECTD1	Q9ULT8	p.Asp325Glu	rs1185161806	missense variant	-	NC_000014.9:g.31173337G>T	gnomAD
HECTD1	Q9ULT8	p.Leu326Pro	rs1366306117	missense variant	-	NC_000014.9:g.31173335A>G	TOPMed
HECTD1	Q9ULT8	p.Leu328PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.31173328_31173329insAA	NCI-TCGA
HECTD1	Q9ULT8	p.Leu330Val	rs1487019389	missense variant	-	NC_000014.9:g.31173324G>C	gnomAD
HECTD1	Q9ULT8	p.Leu331Ser	rs1213292000	missense variant	-	NC_000014.9:g.31173320A>G	gnomAD
HECTD1	Q9ULT8	p.Arg335Ter	rs1467241672	stop gained	-	NC_000014.9:g.31173309G>A	gnomAD
HECTD1	Q9ULT8	p.Ala337Thr	rs1234667441	missense variant	-	NC_000014.9:g.31173303C>T	TOPMed
HECTD1	Q9ULT8	p.Leu338Phe	rs1325149532	missense variant	-	NC_000014.9:g.31173298C>G	TOPMed
HECTD1	Q9ULT8	p.Leu338Val	rs771534036	missense variant	-	NC_000014.9:g.31173300A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys340Glu	rs749728442	missense variant	-	NC_000014.9:g.31173294T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser342Asn	rs367628894	missense variant	-	NC_000014.9:g.31173287C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser342Gly	rs201824279	missense variant	-	NC_000014.9:g.31173288T>C	gnomAD
HECTD1	Q9ULT8	p.Ala343Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173285C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Ser345Cys	rs1439693816	missense variant	-	NC_000014.9:g.31173278G>C	gnomAD
HECTD1	Q9ULT8	p.Gly347Ser	rs781518500	missense variant	-	NC_000014.9:g.31173273C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro350Leu	rs374975608	missense variant	-	NC_000014.9:g.31173263G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu352Phe	rs751721983	missense variant	-	NC_000014.9:g.31173258G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg353Gln	rs201071378	missense variant	-	NC_000014.9:g.31173254C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg353Trp	rs757269778	missense variant	-	NC_000014.9:g.31173255G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg354Lys	COSM3814675	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173251C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Leu355Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173248A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Ser358Pro	rs370615404	missense variant	-	NC_000014.9:g.31173240A>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu360Lys	rs752409885	missense variant	-	NC_000014.9:g.31173234C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg361Cys	rs759105343	missense variant	-	NC_000014.9:g.31173231G>A	ExAC
HECTD1	Q9ULT8	p.Arg361His	rs376624148	missense variant	-	NC_000014.9:g.31173230C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg361Leu	rs376624148	missense variant	-	NC_000014.9:g.31173230C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser362Leu	rs1194461631	missense variant	-	NC_000014.9:g.31173227G>A	gnomAD
HECTD1	Q9ULT8	p.His363Arg	rs914541012	missense variant	-	NC_000014.9:g.31173224T>C	TOPMed
HECTD1	Q9ULT8	p.His363Pro	rs914541012	missense variant	-	NC_000014.9:g.31173224T>G	TOPMed
HECTD1	Q9ULT8	p.Arg364Gln	rs770288826	missense variant	-	NC_000014.9:g.31173221C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg364Trp	rs374758443	missense variant	-	NC_000014.9:g.31173222G>A	ESP,gnomAD
HECTD1	Q9ULT8	p.Gln365His	rs1296006668	missense variant	-	NC_000014.9:g.31173217C>G	gnomAD
HECTD1	Q9ULT8	p.Gln365Arg	rs763474721	missense variant	-	NC_000014.9:g.31173218T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile367Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31173212A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Ile367Val	rs1233168645	missense variant	-	NC_000014.9:g.31173213T>C	gnomAD
HECTD1	Q9ULT8	p.Arg371Ter	rs770257208	stop gained	-	NC_000014.9:g.31173201G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg371Gln	COSM1209473	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31173200C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asp374Asn	rs1389700712	missense variant	-	NC_000014.9:g.31173192C>T	TOPMed
HECTD1	Q9ULT8	p.Asp376Asn	rs1395135102	missense variant	-	NC_000014.9:g.31173186C>T	gnomAD
HECTD1	Q9ULT8	p.Ile379Thr	rs780200526	missense variant	-	NC_000014.9:g.31173176A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala381Val	rs1452909095	missense variant	-	NC_000014.9:g.31173170G>A	gnomAD
HECTD1	Q9ULT8	p.Ile382Leu	rs199790764	missense variant	-	NC_000014.9:g.31173168T>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile382Val	rs199790764	missense variant	-	NC_000014.9:g.31173168T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met392Thr	rs201192424	missense variant	-	NC_000014.9:g.31172104A>G	ExAC
HECTD1	Q9ULT8	p.Asp394Asn	rs1200713364	missense variant	-	NC_000014.9:g.31172099C>T	gnomAD
HECTD1	Q9ULT8	p.Gly396Asp	rs1349543289	missense variant	-	NC_000014.9:g.31172092C>T	gnomAD
HECTD1	Q9ULT8	p.Gln397Glu	COSM4846769	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31172090G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Thr398Ser	rs1258531632	missense variant	-	NC_000014.9:g.31172086G>C	gnomAD
HECTD1	Q9ULT8	p.Leu399Val	rs779071139	missense variant	-	NC_000014.9:g.31172084G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu400Val	rs1455736393	missense variant	-	NC_000014.9:g.31172081A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala403Val	rs1413460199	missense variant	-	NC_000014.9:g.31172071G>A	gnomAD
HECTD1	Q9ULT8	p.Glu417Gln	rs748157493	missense variant	-	NC_000014.9:g.31171944C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly419Ser	rs1166083212	missense variant	-	NC_000014.9:g.31171938C>T	TOPMed
HECTD1	Q9ULT8	p.Ala420Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31171934G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Ala420Thr	rs1463033913	missense variant	-	NC_000014.9:g.31171935C>T	gnomAD
HECTD1	Q9ULT8	p.Asp421Gly	rs754895012	missense variant	-	NC_000014.9:g.31171931T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp421Ala	rs754895012	missense variant	-	NC_000014.9:g.31171931T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val422Ile	rs199633695	missense variant	-	NC_000014.9:g.31171929C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg424Lys	rs1194945677	missense variant	-	NC_000014.9:g.31171922C>T	gnomAD
HECTD1	Q9ULT8	p.Arg424Ile	COSM281659	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31171922C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg424Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31171922C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Gln426Ter	COSM4923780	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31171917G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg427Met	rs1449669554	missense variant	-	NC_000014.9:g.31171913C>A	gnomAD
HECTD1	Q9ULT8	p.Ser430Thr	rs758111235	missense variant	-	NC_000014.9:g.31171905A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser430Pro	COSM3419767	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31171905A>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Tyr433His	rs1297213314	missense variant	-	NC_000014.9:g.31171896A>G	TOPMed
HECTD1	Q9ULT8	p.Arg439Ile	COSM955270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31171877C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Pro440Leu	rs1337909770	missense variant	-	NC_000014.9:g.31171874G>A	gnomAD
HECTD1	Q9ULT8	p.Gln441Arg	rs201335906	missense variant	-	NC_000014.9:g.31171871T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val442Ile	rs753344101	missense variant	-	NC_000014.9:g.31171869C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg448Leu	rs756879472	missense variant	-	NC_000014.9:g.31169458C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg448Gln	rs756879472	missense variant	-	NC_000014.9:g.31169458C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn452Ile	rs777335128	missense variant	-	NC_000014.9:g.31169446T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp454Tyr	rs1259878811	missense variant	-	NC_000014.9:g.31169441C>A	TOPMed
HECTD1	Q9ULT8	p.Thr462Ala	rs756639602	missense variant	-	NC_000014.9:g.31169417T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg468Leu	rs367724968	missense variant	-	NC_000014.9:g.31169398C>A	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg468Gln	rs367724968	missense variant	-	NC_000014.9:g.31169398C>T	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu469Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31169396C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Arg470Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31169392C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Gly471Asp	rs1157504433	missense variant	-	NC_000014.9:g.31169389C>T	gnomAD
HECTD1	Q9ULT8	p.Val476Ile	rs760010664	missense variant	-	NC_000014.9:g.31169375C>T	ExAC
HECTD1	Q9ULT8	p.Ile478Val	rs1468103997	missense variant	-	NC_000014.9:g.31169369T>C	gnomAD
HECTD1	Q9ULT8	p.Ile478Ser	rs939134459	missense variant	-	NC_000014.9:g.31169368A>C	TOPMed
HECTD1	Q9ULT8	p.Gln480His	rs1191797871	missense variant	-	NC_000014.9:g.31169361C>A	TOPMed
HECTD1	Q9ULT8	p.Pro482Ser	COSM3495679	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31169357G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Gly483Asp	rs745938416	missense variant	-	NC_000014.9:g.31168472C>T	TOPMed
HECTD1	Q9ULT8	p.Asp484Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31168469T>A	NCI-TCGA
HECTD1	Q9ULT8	p.Trp485Ter	rs755655947	stop gained	-	NC_000014.9:g.31168465C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Trp485Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31168465C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Met486Val	rs1232705847	missense variant	-	NC_000014.9:g.31168464T>C	gnomAD
HECTD1	Q9ULT8	p.Cys487Ter	rs1334110168	stop gained	-	NC_000014.9:g.31168459A>T	gnomAD
HECTD1	Q9ULT8	p.Pro488Ser	rs149998757	missense variant	-	NC_000014.9:g.31168458G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro488Ala	rs149998757	missense variant	-	NC_000014.9:g.31168458G>C	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro488Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31168457G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Val489Leu	rs781770147	missense variant	-	NC_000014.9:g.31168455C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly492Arg	rs1379608741	missense variant	-	NC_000014.9:g.31168446C>G	gnomAD
HECTD1	Q9ULT8	p.Asp493Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31168443C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Asp494Gly	rs1269299720	missense variant	-	NC_000014.9:g.31168439T>C	gnomAD
HECTD1	Q9ULT8	p.Lys495Arg	rs755484347	missense variant	-	NC_000014.9:g.31168436T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys496Glu	rs1320666930	missense variant	-	NC_000014.9:g.31168434T>C	gnomAD
HECTD1	Q9ULT8	p.Lys497Arg	COSM6075596	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168430T>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Lys498Glu	rs566713177	missense variant	-	NC_000014.9:g.31168428T>C	1000Genomes
HECTD1	Q9ULT8	p.Asp499Asn	COSM4050481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168425C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asp499Glu	rs779189886	missense variant	-	NC_000014.9:g.31168423A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp499Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31168425C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Thr500Ala	rs1392922597	missense variant	-	NC_000014.9:g.31168422T>C	gnomAD
HECTD1	Q9ULT8	p.Asp503Gly	rs551396462	missense variant	-	NC_000014.9:g.31168412T>C	1000Genomes
HECTD1	Q9ULT8	p.Glu504Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31168410C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Glu505Lys	rs1419218532	missense variant	-	NC_000014.9:g.31168407C>T	gnomAD
HECTD1	Q9ULT8	p.Glu509Asp	rs200417980	missense variant	-	NC_000014.9:g.31168393C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys511Glu	COSM6075597	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168389T>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Lys511Arg	rs750633915	missense variant	-	NC_000014.9:g.31168388T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp513Asn	rs761908738	missense variant	-	NC_000014.9:g.31168383C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp513His	rs761908738	missense variant	-	NC_000014.9:g.31168383C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro514Thr	rs767451398	missense variant	-	NC_000014.9:g.31168380G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro514Leu	rs759468065	missense variant	-	NC_000014.9:g.31168379G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro514Gln	rs759468065	missense variant	-	NC_000014.9:g.31168379G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met516Val	rs770738758	missense variant	-	NC_000014.9:g.31168374T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro518Leu	rs748933537	missense variant	-	NC_000014.9:g.31168367G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro518Ser	rs1366953174	missense variant	-	NC_000014.9:g.31168368G>A	gnomAD
HECTD1	Q9ULT8	p.Ile519Met	rs917026647	missense variant	-	NC_000014.9:g.31168363T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile519Val	rs772948905	missense variant	-	NC_000014.9:g.31168365T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile519Thr	rs769522373	missense variant	-	NC_000014.9:g.31168364A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr520Ter	rs1458850118	stop gained	-	NC_000014.9:g.31168360G>C	gnomAD
HECTD1	Q9ULT8	p.Arg523Met	COSM416717	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168352C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Leu525Ser	rs1431944957	missense variant	-	NC_000014.9:g.31168346A>G	gnomAD
HECTD1	Q9ULT8	p.Gln533Ter	COSM3495678	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31168323G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Gln534Glu	rs35311292	missense variant	-	NC_000014.9:g.31168320G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln534Ter	rs35311292	stop gained	-	NC_000014.9:g.31168320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met536Leu	rs925612082	missense variant	-	NC_000014.9:g.31168314T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met536Val	rs925612082	missense variant	-	NC_000014.9:g.31168314T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met536Thr	rs1277790722	missense variant	-	NC_000014.9:g.31168313A>G	gnomAD
HECTD1	Q9ULT8	p.Met536Leu	rs925612082	missense variant	-	NC_000014.9:g.31168314T>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro538Ser	rs1452731854	missense variant	-	NC_000014.9:g.31168308G>A	gnomAD
HECTD1	Q9ULT8	p.Ile540Met	COSM955269	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31168300T>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ile540Val	rs376339897	missense variant	-	NC_000014.9:g.31168302T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala543Thr	rs1249746894	missense variant	-	NC_000014.9:g.31157299C>T	gnomAD
HECTD1	Q9ULT8	p.Leu545Val	rs1179904472	missense variant	-	NC_000014.9:g.31157293G>C	gnomAD
HECTD1	Q9ULT8	p.Leu545Ile	COSM3419766	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31157293G>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Leu547Val	rs769574276	missense variant	-	NC_000014.9:g.31157287G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg549Ter	COSM3495677	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31157281G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Met551Val	rs776338089	missense variant	-	NC_000014.9:g.31157275T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile552Val	rs949217788	missense variant	-	NC_000014.9:g.31157272T>C	gnomAD
HECTD1	Q9ULT8	p.His553Asn	rs1257329103	missense variant	-	NC_000014.9:g.31157269G>T	gnomAD
HECTD1	Q9ULT8	p.Ser556Pro	rs747508509	missense variant	-	NC_000014.9:g.31157260A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala558Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31157253G>C	NCI-TCGA
HECTD1	Q9ULT8	p.Ala558Thr	rs1287079962	missense variant	-	NC_000014.9:g.31157254C>T	gnomAD
HECTD1	Q9ULT8	p.Leu559Pro	rs1481852841	missense variant	-	NC_000014.9:g.31157250A>G	TOPMed
HECTD1	Q9ULT8	p.Glu562Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31157242C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Val563Phe	rs1199216782	missense variant	-	NC_000014.9:g.31157239C>A	TOPMed
HECTD1	Q9ULT8	p.Cys564Tyr	rs780637888	missense variant	-	NC_000014.9:g.31157235C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp565Asn	COSM1300563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31157233C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ser566Cys	rs1312677878	missense variant	-	NC_000014.9:g.31157229G>C	gnomAD
HECTD1	Q9ULT8	p.Asp567Val	rs1413279475	missense variant	-	NC_000014.9:g.31157226T>A	gnomAD
HECTD1	Q9ULT8	p.Val568Ala	rs932341095	missense variant	-	NC_000014.9:g.31157223A>G	TOPMed
HECTD1	Q9ULT8	p.Val568Ile	rs758778839	missense variant	-	NC_000014.9:g.31157224C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn571Ser	rs779249784	missense variant	-	NC_000014.9:g.31157214T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro573Leu	rs757535234	missense variant	-	NC_000014.9:g.31157208G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr574Ala	rs754038853	missense variant	-	NC_000014.9:g.31157206T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu578Ala	rs756249045	missense variant	-	NC_000014.9:g.31157193T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu578Val	rs756249045	missense variant	-	NC_000014.9:g.31157193T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile579Thr	rs752671358	missense variant	-	NC_000014.9:g.31157190A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr580Pro	rs1169363628	missense variant	-	NC_000014.9:g.31157188T>G	TOPMed
HECTD1	Q9ULT8	p.Thr580Ile	rs766352815	missense variant	-	NC_000014.9:g.31157187G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr582Asn	rs1373396144	missense variant	-	NC_000014.9:g.31157181G>T	TOPMed
HECTD1	Q9ULT8	p.Val583Leu	rs1485282818	missense variant	-	NC_000014.9:g.31157179C>G	gnomAD
HECTD1	Q9ULT8	p.Leu584Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31157175A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Asp585Glu	rs1463292873	missense variant	-	NC_000014.9:g.31157171A>T	TOPMed
HECTD1	Q9ULT8	p.Asp589Gly	rs777993834	missense variant	-	NC_000014.9:g.31157006T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp589Glu	rs926606289	missense variant	-	NC_000014.9:g.31157005A>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp590Glu	rs1289548302	missense variant	-	NC_000014.9:g.31157002A>T	TOPMed
HECTD1	Q9ULT8	p.Asp591His	rs756233177	missense variant	-	NC_000014.9:g.31157001C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu595Val	rs752825325	missense variant	-	NC_000014.9:g.31156989G>C	ExAC
HECTD1	Q9ULT8	p.Ile600Met	rs372796767	missense variant	-	NC_000014.9:g.31156972T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile600Val	rs1317627264	missense variant	-	NC_000014.9:g.31156974T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg601Thr	rs1322859701	missense variant	-	NC_000014.9:g.31156970C>G	gnomAD
HECTD1	Q9ULT8	p.Asp602Val	rs1392732875	missense variant	-	NC_000014.9:g.31156967T>A	gnomAD
HECTD1	Q9ULT8	p.Asp602His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31156968C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Asp605His	rs765161560	missense variant	-	NC_000014.9:g.31156959C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly608Asp	rs1235606749	missense variant	-	NC_000014.9:g.31156949C>T	gnomAD
HECTD1	Q9ULT8	p.Ile610Thr	rs772294541	missense variant	-	NC_000014.9:g.31156943A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe611Leu	rs1316863554	missense variant	-	NC_000014.9:g.31156939A>C	TOPMed
HECTD1	Q9ULT8	p.Gln614His	rs753634884	missense variant	-	NC_000014.9:g.31156930C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg617Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31156922C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ile621Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31156909A>C	NCI-TCGA
HECTD1	Q9ULT8	p.Ser622Asn	rs1449614390	missense variant	-	NC_000014.9:g.31156907C>T	gnomAD
HECTD1	Q9ULT8	p.Lys623Glu	COSM6075598	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31156905T>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Lys623Thr	rs1251797151	missense variant	-	NC_000014.9:g.31156904T>G	gnomAD
HECTD1	Q9ULT8	p.Ser625Pro	rs200112692	missense variant	-	NC_000014.9:g.31156899A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr626Met	rs1340466931	missense variant	-	NC_000014.9:g.31156895G>A	gnomAD
HECTD1	Q9ULT8	p.Thr626Ala	rs571232531	missense variant	-	NC_000014.9:g.31156896T>C	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala628Ser	rs1277124747	missense variant	-	NC_000014.9:g.31156890C>A	gnomAD
HECTD1	Q9ULT8	p.Pro630Ser	COSM3495676	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31156884G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asp634Asn	rs1201359129	missense variant	-	NC_000014.9:g.31156872C>T	TOPMed
HECTD1	Q9ULT8	p.Asp634Gly	rs1229374794	missense variant	-	NC_000014.9:g.31156871T>C	gnomAD
HECTD1	Q9ULT8	p.Glu635Val	rs1347310850	missense variant	-	NC_000014.9:g.31156868T>A	gnomAD
HECTD1	Q9ULT8	p.Glu635Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31156869C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Asn636Ser	rs1405642026	missense variant	-	NC_000014.9:g.31156865T>C	TOPMed
HECTD1	Q9ULT8	p.Asn636Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31156865T>G	NCI-TCGA
HECTD1	Q9ULT8	p.Glu637Gly	rs1400056791	missense variant	-	NC_000014.9:g.31156862T>C	TOPMed
HECTD1	Q9ULT8	p.Glu637Asp	rs760132871	missense variant	-	NC_000014.9:g.31156861T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu638Lys	rs1332763775	missense variant	-	NC_000014.9:g.31156860C>T	gnomAD
HECTD1	Q9ULT8	p.Ser640Ter	rs1368464808	stop gained	-	NC_000014.9:g.31156853G>T	gnomAD
HECTD1	Q9ULT8	p.Ser640Thr	rs1409045430	missense variant	-	NC_000014.9:g.31156854A>T	gnomAD
HECTD1	Q9ULT8	p.Pro642Arg	rs771379436	missense variant	-	NC_000014.9:g.31156847G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro642Leu	rs771379436	missense variant	-	NC_000014.9:g.31156847G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro642Gln	rs771379436	missense variant	-	NC_000014.9:g.31156847G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro642Thr	rs1429970630	missense variant	-	NC_000014.9:g.31156848G>T	gnomAD
HECTD1	Q9ULT8	p.Glu643Gln	rs1170327697	missense variant	-	NC_000014.9:g.31156845C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu643Lys	rs1170327697	missense variant	-	NC_000014.9:g.31156845C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu645Lys	rs1228843607	missense variant	-	NC_000014.9:g.31150221C>T	gnomAD
HECTD1	Q9ULT8	p.Asp646Gly	rs747094522	missense variant	-	NC_000014.9:g.31150217T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu647Gly	COSM955268	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31150214T>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Pro648Ser	rs757326361	missense variant	-	NC_000014.9:g.31150212G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu650Gln	rs777667212	missense variant	-	NC_000014.9:g.31150206C>G	ExAC
HECTD1	Q9ULT8	p.Asp651Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31150203C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Glu654Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31150194C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Gln656His	rs11620816	missense variant	-	NC_000014.9:g.31150186T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln656His	rs11620816	missense variant	-	NC_000014.9:g.31150186T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro660Thr	rs1160534274	missense variant	-	NC_000014.9:g.31150176G>T	gnomAD
HECTD1	Q9ULT8	p.Pro660Ser	rs1160534274	missense variant	-	NC_000014.9:g.31150176G>A	gnomAD
HECTD1	Q9ULT8	p.Tyr661Cys	rs1412033172	missense variant	-	NC_000014.9:g.31150172T>C	gnomAD
HECTD1	Q9ULT8	p.His662Arg	rs751136215	missense variant	-	NC_000014.9:g.31150169T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Trp663Arg	COSM4050480	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31150167A>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ile668Val	rs765861228	missense variant	-	NC_000014.9:g.31150152T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg670Gly	rs1318773514	missense variant	-	NC_000014.9:g.31150146T>C	gnomAD
HECTD1	Q9ULT8	p.Arg670Ser	rs1247595276	missense variant	-	NC_000014.9:g.31150144C>G	gnomAD
HECTD1	Q9ULT8	p.Arg672LysPheSerTerUnk	COSM1369533	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31150141_31150142insC	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg672Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31150138C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Asp680Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31150116C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ala682Thr	rs763497573	missense variant	-	NC_000014.9:g.31150110C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala683Val	rs538441061	missense variant	-	NC_000014.9:g.31150106G>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly692Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31150079C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Phe694Val	rs1229778758	missense variant	-	NC_000014.9:g.31150074A>C	gnomAD
HECTD1	Q9ULT8	p.Ile697Met	rs769001457	missense variant	-	NC_000014.9:g.31150063G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly700Arg	rs1432331716	missense variant	-	NC_000014.9:g.31150056C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala703Gly	rs1321853384	missense variant	-	NC_000014.9:g.31150046G>C	gnomAD
HECTD1	Q9ULT8	p.Ala703Thr	rs1366733559	missense variant	-	NC_000014.9:g.31150047C>T	gnomAD
HECTD1	Q9ULT8	p.Tyr706His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31150038A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Ser708Gly	rs745905937	missense variant	-	NC_000014.9:g.31150032T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro711Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31150022G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Glu712Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31150020C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Gly713Val	rs1385630659	missense variant	-	NC_000014.9:g.31150016C>A	TOPMed
HECTD1	Q9ULT8	p.Ser720Arg	rs1250771400	missense variant	-	NC_000014.9:g.31149156G>T	gnomAD
HECTD1	Q9ULT8	p.Arg721Gln	COSM955267	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31149154C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu723Lys	rs1202699233	missense variant	-	NC_000014.9:g.31149149C>T	gnomAD
HECTD1	Q9ULT8	p.Glu726Lys	COSM4535290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31149140C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu726Gly	rs201555948	missense variant	-	NC_000014.9:g.31149139T>C	1000Genomes
HECTD1	Q9ULT8	p.Arg730Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31149127C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Arg732Ter	COSM955266	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31149122G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg732Gln	rs1251457276	missense variant	-	NC_000014.9:g.31149121C>T	gnomAD
HECTD1	Q9ULT8	p.Gln734Pro	rs147151322	missense variant	-	NC_000014.9:g.31149115T>G	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val735Ile	rs1309918112	missense variant	-	NC_000014.9:g.31149113C>T	gnomAD
HECTD1	Q9ULT8	p.Val735Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31149112A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Lys736Glu	rs1220297212	missense variant	-	NC_000014.9:g.31149110T>C	gnomAD
HECTD1	Q9ULT8	p.Pro737Ala	rs1404343352	missense variant	-	NC_000014.9:g.31149107G>C	TOPMed
HECTD1	Q9ULT8	p.Pro737Leu	rs1000920278	missense variant	-	NC_000014.9:g.31149106G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser738Phe	rs1297585787	missense variant	-	NC_000014.9:g.31149103G>A	TOPMed
HECTD1	Q9ULT8	p.Thr739Pro	rs1411992832	missense variant	-	NC_000014.9:g.31149101T>G	gnomAD
HECTD1	Q9ULT8	p.Ser740Pro	rs768408652	missense variant	-	NC_000014.9:g.31149098A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln742Pro	rs993844986	missense variant	-	NC_000014.9:g.31149091T>G	TOPMed
HECTD1	Q9ULT8	p.Pro743Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31149088G>C	NCI-TCGA
HECTD1	Q9ULT8	p.Ile744Val	rs1056840096	missense variant	-	NC_000014.9:g.31149086T>C	TOPMed
HECTD1	Q9ULT8	p.Gly749Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31149071C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Thr754Asn	rs1254091642	missense variant	-	NC_000014.9:g.31149055G>T	gnomAD
HECTD1	Q9ULT8	p.Thr761Lys	rs757756827	missense variant	-	NC_000014.9:g.31149034G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr761Ile	rs757756827	missense variant	-	NC_000014.9:g.31149034G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys762Tyr	rs764660870	missense variant	-	NC_000014.9:g.31149031C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu767Ter	COSM955265	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31149017C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ala769Val	COSM955264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31149010G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ile770Val	rs753054988	missense variant	-	NC_000014.9:g.31149008T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile770Leu	rs753054988	missense variant	-	NC_000014.9:g.31149008T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His771Arg	rs1329081844	missense variant	-	NC_000014.9:g.31149004T>C	gnomAD
HECTD1	Q9ULT8	p.Gln777Ter	rs1379160674	stop gained	-	NC_000014.9:g.31148987G>A	TOPMed
HECTD1	Q9ULT8	p.Lys782Asn	rs774353216	missense variant	-	NC_000014.9:g.31148970T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu783Asp	rs747375907	missense variant	-	NC_000014.9:g.31148967T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp784Gly	rs1206173384	missense variant	-	NC_000014.9:g.31148965T>C	gnomAD
HECTD1	Q9ULT8	p.Leu785Ile	rs1381552035	missense variant	-	NC_000014.9:g.31148963A>T	gnomAD
HECTD1	Q9ULT8	p.Pro786Ser	rs1303528861	missense variant	-	NC_000014.9:g.31148960G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val789Leu	rs776581105	missense variant	-	NC_000014.9:g.31148951C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val789Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31148950A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Arg794Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31148936T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Thr796Ser	rs1156837741	missense variant	-	NC_000014.9:g.31148929G>C	gnomAD
HECTD1	Q9ULT8	p.Ser799Leu	rs143404862	missense variant	-	NC_000014.9:g.31148920G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala802Val	rs1257758388	missense variant	-	NC_000014.9:g.31148911G>A	gnomAD
HECTD1	Q9ULT8	p.Thr804Pro	rs57637783	missense variant	-	NC_000014.9:g.31148906T>G	TOPMed
HECTD1	Q9ULT8	p.Thr804Ala	rs57637783	missense variant	-	NC_000014.9:g.31148906T>C	TOPMed
HECTD1	Q9ULT8	p.Leu806Arg	rs745517108	missense variant	-	NC_000014.9:g.31148899A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu809Val	COSM258786	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31148791T>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu809Asp	rs1384931822	missense variant	-	NC_000014.9:g.31148790T>G	gnomAD
HECTD1	Q9ULT8	p.Val811Met	rs1282774343	missense variant	-	NC_000014.9:g.31148786C>T	gnomAD
HECTD1	Q9ULT8	p.Thr812Ala	rs758479061	missense variant	-	NC_000014.9:g.31148783T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Trp814Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31148775C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Thr815Ser	rs1479532818	missense variant	-	NC_000014.9:g.31148773G>C	TOPMed
HECTD1	Q9ULT8	p.Thr815Ala	rs750564113	missense variant	-	NC_000014.9:g.31148774T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly819Cys	rs76272797	missense variant	-	NC_000014.9:g.31148762C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys823Ile	rs1458984308	missense variant	-	NC_000014.9:g.31148749T>A	TOPMed
HECTD1	Q9ULT8	p.Glu827Gly	rs760651756	missense variant	-	NC_000014.9:g.31148737T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr829Pro	rs868194793	missense variant	-	NC_000014.9:g.31148732T>G	TOPMed
HECTD1	Q9ULT8	p.Thr829Ala	rs868194793	missense variant	-	NC_000014.9:g.31148732T>C	TOPMed
HECTD1	Q9ULT8	p.Gln831Arg	rs896657423	missense variant	-	NC_000014.9:g.31148725T>C	gnomAD
HECTD1	Q9ULT8	p.Gln831Leu	rs896657423	missense variant	-	NC_000014.9:g.31148725T>A	gnomAD
HECTD1	Q9ULT8	p.Arg834Gln	rs762737350	missense variant	-	NC_000014.9:g.31144937C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg838Ter	rs773027749	stop gained	-	NC_000014.9:g.31144926G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg838Pro	rs201294046	missense variant	-	NC_000014.9:g.31144925C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg838Gln	rs201294046	missense variant	-	NC_000014.9:g.31144925C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp839Glu	rs775936710	missense variant	-	NC_000014.9:g.31144921A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp839Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31144923C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Leu840Ile	rs373355662	missense variant	-	NC_000014.9:g.31144920A>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp842Asn	rs772392792	missense variant	-	NC_000014.9:g.31144914C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp842Tyr	rs772392792	missense variant	-	NC_000014.9:g.31144914C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp843His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31144911C>G	NCI-TCGA
HECTD1	Q9ULT8	p.His844Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31144906A>C	NCI-TCGA
HECTD1	Q9ULT8	p.Ala847Val	rs779124645	missense variant	-	NC_000014.9:g.31144898G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser850Arg	rs1476703494	missense variant	-	NC_000014.9:g.31144888G>T	gnomAD
HECTD1	Q9ULT8	p.Ser850Asn	rs754020833	missense variant	-	NC_000014.9:g.31144889C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met851Arg	rs777701778	missense variant	-	NC_000014.9:g.31144886A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met851Thr	rs777701778	missense variant	-	NC_000014.9:g.31144886A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro852Leu	rs1436320168	missense variant	-	NC_000014.9:g.31144883G>A	TOPMed
HECTD1	Q9ULT8	p.Arg853Cys	rs1326871119	missense variant	-	NC_000014.9:g.31144881G>A	gnomAD
HECTD1	Q9ULT8	p.Arg853His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31144880C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Val856Ala	rs754992476	missense variant	-	NC_000014.9:g.31144871A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val857Leu	rs1193523294	missense variant	-	NC_000014.9:g.31144869C>A	gnomAD
HECTD1	Q9ULT8	p.Val857Ala	rs751423256	missense variant	-	NC_000014.9:g.31144868A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile862Val	rs1454183723	missense variant	-	NC_000014.9:g.31144854T>C	gnomAD
HECTD1	Q9ULT8	p.Ile862Met	rs762860849	missense variant	-	NC_000014.9:g.31144852T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala863Pro	rs1320532384	missense variant	-	NC_000014.9:g.31144851C>G	gnomAD
HECTD1	Q9ULT8	p.Gln865Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31144845G>C	NCI-TCGA
HECTD1	Q9ULT8	p.Ser868Ter	COSM3738256	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31144835G>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu871Lys	rs1411968245	missense variant	-	NC_000014.9:g.31144827C>T	gnomAD
HECTD1	Q9ULT8	p.His873Arg	rs1253045772	missense variant	-	NC_000014.9:g.31144820T>C	TOPMed
HECTD1	Q9ULT8	p.Thr874Lys	rs761548619	missense variant	-	NC_000014.9:g.31144817G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr874Ala	rs1185760101	missense variant	-	NC_000014.9:g.31144818T>C	gnomAD
HECTD1	Q9ULT8	p.Asn875Lys	rs370184184	missense variant	-	NC_000014.9:g.31144813A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln877Arg	rs1389606671	missense variant	-	NC_000014.9:g.31144808T>C	gnomAD
HECTD1	Q9ULT8	p.Cys878Arg	rs1228804712	missense variant	-	NC_000014.9:g.31144257A>G	TOPMed
HECTD1	Q9ULT8	p.Glu880Gln	rs1274915096	missense variant	-	NC_000014.9:g.31144251C>G	TOPMed
HECTD1	Q9ULT8	p.Glu882Lys	rs765106677	missense variant	-	NC_000014.9:g.31144245C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu882Asp	rs756979673	missense variant	-	NC_000014.9:g.31144243C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys890Gln	rs1224392849	missense variant	-	NC_000014.9:g.31144221T>G	gnomAD
HECTD1	Q9ULT8	p.Thr891Ser	rs753398902	missense variant	-	NC_000014.9:g.31144218T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu893Ser	rs1273388997	missense variant	-	NC_000014.9:g.31144211A>G	gnomAD
HECTD1	Q9ULT8	p.Asn895Ser	rs763760019	missense variant	-	NC_000014.9:g.31144205T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn895Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31144206T>A	NCI-TCGA
HECTD1	Q9ULT8	p.Val898Ile	rs1308740918	missense variant	-	NC_000014.9:g.31144197C>T	gnomAD
HECTD1	Q9ULT8	p.Val898Ala	rs760119619	missense variant	-	NC_000014.9:g.31144196A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu899Phe	rs775001546	missense variant	-	NC_000014.9:g.31144194G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu900Ser	rs1285616276	missense variant	-	NC_000014.9:g.31144190A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys901Asn	COSM4050478	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31144186C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asp902Glu	rs1405874739	missense variant	-	NC_000014.9:g.31144183A>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu903Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31144182C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Ile906Thr	rs760028063	missense variant	-	NC_000014.9:g.31144172A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile906Val	rs757106907	missense variant	-	NC_000014.9:g.31144173T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro908Ser	rs1029520275	missense variant	-	NC_000014.9:g.31144167G>A	TOPMed
HECTD1	Q9ULT8	p.Tyr909Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31144163T>A	NCI-TCGA
HECTD1	Q9ULT8	p.Glu910Gln	COSM3793656	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31144161C>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu910Gly	rs1463628083	missense variant	-	NC_000014.9:g.31144160T>C	gnomAD
HECTD1	Q9ULT8	p.Gly915Ser	rs930145918	missense variant	-	NC_000014.9:g.31144146C>T	TOPMed
HECTD1	Q9ULT8	p.Val923Met	rs1427037940	missense variant	-	NC_000014.9:g.31144122C>T	gnomAD
HECTD1	Q9ULT8	p.Val923Ala	rs367754588	missense variant	-	NC_000014.9:g.31144121A>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn926Tyr	rs1175081380	missense variant	-	NC_000014.9:g.31144113T>A	gnomAD
HECTD1	Q9ULT8	p.Asn926Ser	rs773331072	missense variant	-	NC_000014.9:g.31144112T>C	ExAC
HECTD1	Q9ULT8	p.Met928Val	rs200350849	missense variant	-	NC_000014.9:g.31141949T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met932Val	rs752038815	missense variant	-	NC_000014.9:g.31141937T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys933Gln	rs749107980	missense variant	-	NC_000014.9:g.31141934T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp935Tyr	rs371069986	missense variant	-	NC_000014.9:g.31141928C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Cys936Gly	rs755776072	missense variant	-	NC_000014.9:g.31141925A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser937Gly	rs752316549	missense variant	-	NC_000014.9:g.31141922T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser937Arg	rs752316549	missense variant	-	NC_000014.9:g.31141922T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu941Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31141910C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Ile943Met	rs780783696	missense variant	-	NC_000014.9:g.31141902T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile943Val	rs1244021369	missense variant	-	NC_000014.9:g.31141904T>C	gnomAD
HECTD1	Q9ULT8	p.Val945Ile	rs368964893	missense variant	-	NC_000014.9:g.31141898C>T	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe946Leu	rs754508677	missense variant	-	NC_000014.9:g.31141893A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys947Thr	rs766797998	missense variant	-	NC_000014.9:g.31141891T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys947Glu	rs751014789	missense variant	-	NC_000014.9:g.31141892T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr948Ala	rs763508731	missense variant	-	NC_000014.9:g.31141889T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala949Val	rs1478729942	missense variant	-	NC_000014.9:g.31141885G>A	TOPMed
HECTD1	Q9ULT8	p.Ser951Thr	rs1292683180	missense variant	-	NC_000014.9:g.31141879C>G	gnomAD
HECTD1	Q9ULT8	p.Glu952Lys	COSM4846768	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31141877C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asp956Glu	rs1163684356	missense variant	-	NC_000014.9:g.31141863A>C	gnomAD
HECTD1	Q9ULT8	p.Glu957Lys	COSM1300562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31141862C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu957Asp	rs1448456812	missense variant	-	NC_000014.9:g.31141860T>A	gnomAD
HECTD1	Q9ULT8	p.Ser958Cys	rs1448337628	missense variant	-	NC_000014.9:g.31141859T>A	gnomAD
HECTD1	Q9ULT8	p.Arg959Gln	rs373736992	missense variant	-	NC_000014.9:g.31139995C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg959Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31139996G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Ala963Gly	rs754195624	missense variant	-	NC_000014.9:g.31139983G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala963Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31139983G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Arg966Gln	rs376639276	missense variant	-	NC_000014.9:g.31139974C>T	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg966Pro	rs376639276	missense variant	-	NC_000014.9:g.31139974C>G	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu968Ser	rs982836656	missense variant	-	NC_000014.9:g.31139968A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala970Val	rs373472247	missense variant	-	NC_000014.9:g.31139962G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu972Val	rs767603672	missense variant	-	NC_000014.9:g.31139957G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile975Val	rs1430458132	missense variant	-	NC_000014.9:g.31139948T>C	gnomAD
HECTD1	Q9ULT8	p.Ile975Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31139948T>A	NCI-TCGA
HECTD1	Q9ULT8	p.Arg977His	rs1470510768	missense variant	-	NC_000014.9:g.31139941C>T	TOPMed
HECTD1	Q9ULT8	p.Arg977Cys	rs759498422	missense variant	-	NC_000014.9:g.31139942G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro979Thr	rs1468803199	missense variant	-	NC_000014.9:g.31139936G>T	gnomAD
HECTD1	Q9ULT8	p.Pro979Leu	rs773226972	missense variant	-	NC_000014.9:g.31139935G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu980Phe	rs1182700067	missense variant	-	NC_000014.9:g.31139933G>A	gnomAD
HECTD1	Q9ULT8	p.His981Arg	rs906954730	missense variant	-	NC_000014.9:g.31139929T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr983Cys	rs368864658	missense variant	-	NC_000014.9:g.31139923T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp984Val	rs1326779493	missense variant	-	NC_000014.9:g.31139920T>A	TOPMed
HECTD1	Q9ULT8	p.Thr985Ile	rs747943699	missense variant	-	NC_000014.9:g.31139917G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser988Thr	rs776403711	missense variant	-	NC_000014.9:g.31139909A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu992Val	rs1331165045	missense variant	-	NC_000014.9:g.31139897G>C	TOPMed
HECTD1	Q9ULT8	p.Ile994Val	rs749782269	missense variant	-	NC_000014.9:g.31136665T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile994Leu	rs749782269	missense variant	-	NC_000014.9:g.31136665T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr996Arg	rs1363868646	missense variant	-	NC_000014.9:g.31136658G>C	gnomAD
HECTD1	Q9ULT8	p.Arg998Ile	rs961869282	missense variant	-	NC_000014.9:g.31136652C>A	gnomAD
HECTD1	Q9ULT8	p.Arg998Lys	rs961869282	missense variant	-	NC_000014.9:g.31136652C>T	gnomAD
HECTD1	Q9ULT8	p.Arg1000Gln	COSM2194841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31136646C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg1000Pro	rs756573551	missense variant	-	NC_000014.9:g.31136646C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1002Trp	rs781483780	missense variant	-	NC_000014.9:g.31136641G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1002Gln	rs755152978	missense variant	-	NC_000014.9:g.31136640C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1004Gln	rs930750776	missense variant	-	NC_000014.9:g.31136635C>G	TOPMed
HECTD1	Q9ULT8	p.Arg1005His	rs766420959	missense variant	-	NC_000014.9:g.31136631C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1006Gly	rs761775793	missense variant	-	NC_000014.9:g.31136628G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1007Leu	COSM4050477	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31136625G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Leu1012Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31136609C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Lys1021Arg	rs1224163689	missense variant	-	NC_000014.9:g.31136583T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1022Thr	rs763970973	missense variant	-	NC_000014.9:g.31136580A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1023Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31136578C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ala1026Pro	rs1036797158	missense variant	-	NC_000014.9:g.31136569C>G	TOPMed
HECTD1	Q9ULT8	p.Thr1027Ile	rs375421611	missense variant	-	NC_000014.9:g.31136565G>A	ESP,gnomAD
HECTD1	Q9ULT8	p.Glu1029Lys	rs1339496274	missense variant	-	NC_000014.9:g.31136560C>T	TOPMed
HECTD1	Q9ULT8	p.Leu1031Val	rs1364645482	missense variant	-	NC_000014.9:g.31136554G>C	gnomAD
HECTD1	Q9ULT8	p.Gln1033Pro	rs1404654942	missense variant	-	NC_000014.9:g.31136547T>G	gnomAD
HECTD1	Q9ULT8	p.Tyr1034His	rs1203966015	missense variant	-	NC_000014.9:g.31136545A>G	TOPMed
HECTD1	Q9ULT8	p.Tyr1034Ter	COSM1477529	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31136543G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Leu1035Phe	rs760531445	missense variant	-	NC_000014.9:g.31136542G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1036Met	rs1251581420	missense variant	-	NC_000014.9:g.31136539A>T	TOPMed
HECTD1	Q9ULT8	p.Met1038Arg	rs199517581	missense variant	-	NC_000014.9:g.31136532A>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1040Thr	rs1296538647	missense variant	-	NC_000014.9:g.31135612C>T	gnomAD
HECTD1	Q9ULT8	p.Lys1041Asn	rs750443961	missense variant	-	NC_000014.9:g.31135607T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr1044His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31135600A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Asp1045His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31135597C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Arg1048Gln	rs1171264765	missense variant	-	NC_000014.9:g.31135587C>T	gnomAD
HECTD1	Q9ULT8	p.Ser1049Cys	rs764022151	missense variant	-	NC_000014.9:g.31135584G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1055Ter	COSM1323515	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31135567G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg1055Gln	rs1178270575	missense variant	-	NC_000014.9:g.31135566C>T	gnomAD
HECTD1	Q9ULT8	p.Lys1056Thr	rs1433411090	missense variant	-	NC_000014.9:g.31135563T>G	gnomAD
HECTD1	Q9ULT8	p.Leu1057Ile	rs1180986608	missense variant	-	NC_000014.9:g.31135561A>T	TOPMed
HECTD1	Q9ULT8	p.Arg1058Lys	COSM1477528	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31135557C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu1059Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31135555C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Gly1060Arg	rs1003100577	missense variant	-	NC_000014.9:g.31135552C>T	TOPMed
HECTD1	Q9ULT8	p.Asn1062His	rs1455290943	missense variant	-	NC_000014.9:g.31135546T>G	TOPMed
HECTD1	Q9ULT8	p.Ile1064Met	rs767187305	missense variant	-	NC_000014.9:g.31135538T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1064Val	rs752588141	missense variant	-	NC_000014.9:g.31135540T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1066Trp	rs759336398	missense variant	-	NC_000014.9:g.31135534G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.His1067Tyr	COSM4050476	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31135531G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Gln1068Arg	rs1239359996	missense variant	-	NC_000014.9:g.31135527T>C	gnomAD
HECTD1	Q9ULT8	p.Asp1070Asn	rs1203564398	missense variant	-	NC_000014.9:g.31135522C>T	gnomAD
HECTD1	Q9ULT8	p.Asn1074His	rs939054702	missense variant	-	NC_000014.9:g.31135510T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1074Tyr	rs939054702	missense variant	-	NC_000014.9:g.31135510T>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1074Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31135510T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Ile1077Met	rs1234349543	missense variant	-	NC_000014.9:g.31135499A>C	gnomAD
HECTD1	Q9ULT8	p.Trp1079Cys	rs770653648	missense variant	-	NC_000014.9:g.31135493C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1082Ala	rs1225579920	missense variant	-	NC_000014.9:g.31135486T>C	gnomAD
HECTD1	Q9ULT8	p.Ala1084Gly	rs1336112202	missense variant	-	NC_000014.9:g.31135479G>C	gnomAD
HECTD1	Q9ULT8	p.Ala1084Thr	rs762560439	missense variant	-	NC_000014.9:g.31135480C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys1085Glu	rs1425494318	missense variant	-	NC_000014.9:g.31135477T>C	TOPMed
HECTD1	Q9ULT8	p.Lys1085Ile	rs772847091	missense variant	-	NC_000014.9:g.31135476T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1094Thr	rs751337934	missense variant	-	NC_000014.9:g.31135170C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1094Asp	rs766203387	missense variant	-	NC_000014.9:g.31135169G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1097Glu	rs1396429390	missense variant	-	NC_000014.9:g.31135160C>T	gnomAD
HECTD1	Q9ULT8	p.Val1099Ile	rs1171443767	missense variant	-	NC_000014.9:g.31135155C>T	TOPMed
HECTD1	Q9ULT8	p.Thr1102Met	rs533239121	missense variant	-	NC_000014.9:g.31135145G>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1104Ala	rs1375116483	missense variant	-	NC_000014.9:g.31135140A>C	TOPMed
HECTD1	Q9ULT8	p.Gly1106Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31135133C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Arg1113His	rs1398262686	missense variant	-	NC_000014.9:g.31135112C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1113Cys	rs374023878	missense variant	-	NC_000014.9:g.31135113G>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1117Val	rs777023454	missense variant	-	NC_000014.9:g.31135101T>C	ExAC
HECTD1	Q9ULT8	p.Leu1118Pro	rs1188832748	missense variant	-	NC_000014.9:g.31135097A>G	gnomAD
HECTD1	Q9ULT8	p.Ser1119Asn	rs1359909331	missense variant	-	NC_000014.9:g.31135094C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1120His	rs544195129	missense variant	-	NC_000014.9:g.31135091C>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1120Leu	rs544195129	missense variant	-	NC_000014.9:g.31135091C>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1120Cys	rs962265201	missense variant	-	NC_000014.9:g.31135092G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1122Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31135086T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Ser1123Ter	rs1220435075	stop gained	-	NC_000014.9:g.31135082G>C	gnomAD
HECTD1	Q9ULT8	p.Asn1126Ser	rs775827092	missense variant	-	NC_000014.9:g.31135073T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1130Ser	rs1325742470	missense variant	-	NC_000014.9:g.31135061T>C	gnomAD
HECTD1	Q9ULT8	p.Asn1134Ser	rs779157588	missense variant	-	NC_000014.9:g.31135049T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1138Val	rs981310714	missense variant	-	NC_000014.9:g.31135037G>A	TOPMed
HECTD1	Q9ULT8	p.Ile1139Leu	rs1302113700	missense variant	-	NC_000014.9:g.31135035T>G	gnomAD
HECTD1	Q9ULT8	p.Ile1139Val	rs1302113700	missense variant	-	NC_000014.9:g.31135035T>C	gnomAD
HECTD1	Q9ULT8	p.Gly1142Cys	rs1422270598	missense variant	-	NC_000014.9:g.31135026C>A	gnomAD
HECTD1	Q9ULT8	p.Trp1144Arg	rs1163296253	missense variant	-	NC_000014.9:g.31135020A>G	gnomAD
HECTD1	Q9ULT8	p.Val1145Met	rs749331678	missense variant	-	NC_000014.9:g.31135017C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1146Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31135012T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Pro1147Leu	rs1173057708	missense variant	-	NC_000014.9:g.31135010G>A	gnomAD
HECTD1	Q9ULT8	p.Arg1153Cys	rs766258183	missense variant	-	NC_000014.9:g.31134993G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1156Cys	rs1338732936	missense variant	-	NC_000014.9:g.31134984G>A	gnomAD
HECTD1	Q9ULT8	p.Asn1165Ser	rs764890856	missense variant	-	NC_000014.9:g.31134956T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1165Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31134956T>A	NCI-TCGA
HECTD1	Q9ULT8	p.Val1167Phe	rs761239314	missense variant	-	NC_000014.9:g.31134951C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Phe1168Leu	rs1476556069	missense variant	-	NC_000014.9:g.31134946G>C	gnomAD
HECTD1	Q9ULT8	p.Lys1172Arg	rs776138734	missense variant	-	NC_000014.9:g.31134935T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Trp1177Ter	rs1176091257	stop gained	-	NC_000014.9:g.31134919C>T	TOPMed
HECTD1	Q9ULT8	p.Ser1179Tyr	rs764575979	missense variant	-	NC_000014.9:g.31134914G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1180Ser	rs761154685	missense variant	-	NC_000014.9:g.31134911A>G	ExAC,TOPMed
HECTD1	Q9ULT8	p.Thr1182Ile	rs1390295200	missense variant	-	NC_000014.9:g.31134905G>A	gnomAD
HECTD1	Q9ULT8	p.His1183Tyr	rs1173415506	missense variant	-	NC_000014.9:g.31134903G>A	gnomAD
HECTD1	Q9ULT8	p.His1183Arg	rs772458480	missense variant	-	NC_000014.9:g.31134902T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys1187Tyr	rs1174678041	missense variant	-	NC_000014.9:g.31134890C>T	gnomAD
HECTD1	Q9ULT8	p.Asn1190Ser	rs774451100	missense variant	-	NC_000014.9:g.31134881T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1191Gly	rs1181265837	missense variant	-	NC_000014.9:g.31134878T>C	gnomAD
HECTD1	Q9ULT8	p.Thr1195Ala	rs760140425	missense variant	-	NC_000014.9:g.31133671T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1197Ser	rs1278950807	missense variant	-	NC_000014.9:g.31133665T>A	gnomAD
HECTD1	Q9ULT8	p.Thr1197Asn	rs1204205614	missense variant	-	NC_000014.9:g.31133664G>T	gnomAD
HECTD1	Q9ULT8	p.Asp1205Asn	rs1488131733	missense variant	-	NC_000014.9:g.31133641C>T	TOPMed
HECTD1	Q9ULT8	p.Asp1205His	rs1488131733	missense variant	-	NC_000014.9:g.31133641C>G	TOPMed
HECTD1	Q9ULT8	p.Glu1206Asp	COSM1300561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133636C>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu1206Gln	COSM3793655	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133638C>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Trp1210Leu	COSM3793654	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133625C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg1214Lys	rs753228146	missense variant	-	NC_000014.9:g.31133613C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1214Ile	rs753228146	missense variant	-	NC_000014.9:g.31133613C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1215Met	rs767954866	missense variant	-	NC_000014.9:g.31133609A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys1216Gln	rs1340010577	missense variant	-	NC_000014.9:g.31133608T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1218Ile	rs1313519147	missense variant	-	NC_000014.9:g.31133600C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1219Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31133598C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Gly1219Trp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31133599C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Lys1220Glu	COSM3689925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133596T>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Lys1220Ile	rs1450694238	missense variant	-	NC_000014.9:g.31133595T>A	gnomAD
HECTD1	Q9ULT8	p.Lys1220Asn	rs568495561	missense variant	-	NC_000014.9:g.31133594T>G	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1233Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31133557C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Glu1235Lys	COSM955261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133551C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu1235Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31133551C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Leu1236ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.31133548_31133549insT	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1239Ala	rs763217492	missense variant	-	NC_000014.9:g.31133539T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1240Ile	rs773208064	missense variant	-	NC_000014.9:g.31133536C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1241Ile	rs770022695	missense variant	-	NC_000014.9:g.31133532T>A	ExAC
HECTD1	Q9ULT8	p.Gly1242Glu	rs748187834	missense variant	-	NC_000014.9:g.31133529C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys1244Tyr	rs1473707557	missense variant	-	NC_000014.9:g.31133523C>T	gnomAD
HECTD1	Q9ULT8	p.Glu1245Gly	rs1237870311	missense variant	-	NC_000014.9:g.31133520T>C	gnomAD
HECTD1	Q9ULT8	p.Gln1247Ter	rs780150180	stop gained	-	NC_000014.9:g.31133515G>A	ExAC
HECTD1	Q9ULT8	p.Ala1251Val	rs1253683954	missense variant	-	NC_000014.9:g.31133408G>A	gnomAD
HECTD1	Q9ULT8	p.Lys1253Glu	rs1180855414	missense variant	-	NC_000014.9:g.31133403T>C	gnomAD
HECTD1	Q9ULT8	p.Ala1255Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31133397C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ala1257Gly	rs770079178	missense variant	-	NC_000014.9:g.31133390G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1257Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31133390G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Arg1261Trp	rs761985708	missense variant	-	NC_000014.9:g.31133379G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1261Gln	rs772194444	missense variant	-	NC_000014.9:g.31133378C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1261Pro	rs772194444	missense variant	-	NC_000014.9:g.31133378C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1263Gly	rs745794632	missense variant	-	NC_000014.9:g.31133373T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1264Cys	rs774052729	missense variant	-	NC_000014.9:g.31133370G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1266Ile	rs748980402	missense variant	-	NC_000014.9:g.31133364C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1267His	rs1279187861	missense variant	-	NC_000014.9:g.31133360C>T	gnomAD
HECTD1	Q9ULT8	p.Val1270Leu	rs777407786	missense variant	-	NC_000014.9:g.31133352C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1270Ile	rs777407786	missense variant	-	NC_000014.9:g.31133352C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1274Val	rs755760722	missense variant	-	NC_000014.9:g.31133340T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met1274Ile	rs375623416	missense variant	-	NC_000014.9:g.31133338C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1274Ile	rs375623416	missense variant	-	NC_000014.9:g.31133338C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1278Gly	rs1434233403	missense variant	-	NC_000014.9:g.31133327G>C	TOPMed
HECTD1	Q9ULT8	p.Arg1279His	rs201513517	missense variant	-	NC_000014.9:g.31133324C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1279Cys	rs780660891	missense variant	-	NC_000014.9:g.31133325G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1280Ile	rs1463955006	missense variant	-	NC_000014.9:g.31133322C>T	gnomAD
HECTD1	Q9ULT8	p.Ile1281Val	rs752142523	missense variant	-	NC_000014.9:g.31133319T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1282Lys	COSM6075601	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133315C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Trp1286Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31133302C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Trp1286Ter	rs1479912522	stop gained	-	NC_000014.9:g.31133303C>T	gnomAD
HECTD1	Q9ULT8	p.Trp1288Arg	rs1317808549	missense variant	-	NC_000014.9:g.31133298A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1289Gln	rs368630382	missense variant	-	NC_000014.9:g.31133294C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp1290His	COSM697977	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31133292C>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asp1292Asn	rs750748737	missense variant	-	NC_000014.9:g.31133286C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1293Ser	rs765619011	missense variant	-	NC_000014.9:g.31133283C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1294Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31133279C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Pro1295Thr	rs762112462	missense variant	-	NC_000014.9:g.31133277G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1307Asp	rs1489745052	missense variant	-	NC_000014.9:g.31133241T>C	TOPMed
HECTD1	Q9ULT8	p.Asn1307Ser	rs749150360	missense variant	-	NC_000014.9:g.31133240T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1307Thr	rs749150360	missense variant	-	NC_000014.9:g.31133240T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1310Met	rs200455930	missense variant	-	NC_000014.9:g.31129441A>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1312Ile	rs1434872095	missense variant	-	NC_000014.9:g.31129437C>T	TOPMed
HECTD1	Q9ULT8	p.Asp1315Glu	rs760814555	missense variant	-	NC_000014.9:g.31129426A>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1316Val	rs1309845920	missense variant	-	NC_000014.9:g.31129424G>A	gnomAD
HECTD1	Q9ULT8	p.Gly1317Arg	rs374628401	missense variant	-	NC_000014.9:g.31129422C>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr1322Phe	rs1304333819	missense variant	-	NC_000014.9:g.31129406T>A	gnomAD
HECTD1	Q9ULT8	p.Arg1323His	rs370593762	missense variant	-	NC_000014.9:g.31129403C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1324Val	rs1156369293	missense variant	-	NC_000014.9:g.31129401T>C	gnomAD
HECTD1	Q9ULT8	p.Gly1325Asp	rs1163709999	missense variant	-	NC_000014.9:g.31129397C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1326Thr	rs762858512	missense variant	-	NC_000014.9:g.31129395C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys1329Arg	rs1381520470	missense variant	-	NC_000014.9:g.31129385T>C	gnomAD
HECTD1	Q9ULT8	p.Leu1332Ile	COSM955260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31129377G>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Lys1333Arg	rs761550936	missense variant	-	NC_000014.9:g.31129373T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1337Ala	rs1182745774	missense variant	-	NC_000014.9:g.31129361C>G	gnomAD
HECTD1	Q9ULT8	p.Asp1339Asn	rs1218937677	missense variant	-	NC_000014.9:g.31129356C>T	gnomAD
HECTD1	Q9ULT8	p.Asp1339Glu	rs1354472615	missense variant	-	NC_000014.9:g.31129354G>C	gnomAD
HECTD1	Q9ULT8	p.Pro1340Ser	rs768122107	missense variant	-	NC_000014.9:g.31129353G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1348Leu	rs779414861	missense variant	-	NC_000014.9:g.31129328G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1348Ser	rs1319789232	missense variant	-	NC_000014.9:g.31129329G>A	gnomAD
HECTD1	Q9ULT8	p.Pro1348Arg	rs779414861	missense variant	-	NC_000014.9:g.31129328G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1349Leu	rs1396381071	missense variant	-	NC_000014.9:g.31129326C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1350Ala	rs750135625	missense variant	-	NC_000014.9:g.31129323A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1350Thr	rs750135625	missense variant	-	NC_000014.9:g.31129323A>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1352Ala	rs1321651503	missense variant	-	NC_000014.9:g.31129317T>C	TOPMed
HECTD1	Q9ULT8	p.Ser1354Thr	rs746344166	missense variant	-	NC_000014.9:g.31129311A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1355Asp	rs779521911	missense variant	-	NC_000014.9:g.31129307C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1356Ala	rs548230741	missense variant	-	NC_000014.9:g.31129305T>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1357Ala	rs754189564	missense variant	-	NC_000014.9:g.31129302T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1357Met	rs778124249	missense variant	-	NC_000014.9:g.31129301G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1361Ile	rs1233368648	missense variant	-	NC_000014.9:g.31129289C>A	TOPMed
HECTD1	Q9ULT8	p.Ser1361Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31129289C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ser1362Asn	rs1007670842	missense variant	-	NC_000014.9:g.31129286C>T	TOPMed
HECTD1	Q9ULT8	p.Asn1367Ser	rs376334029	missense variant	-	NC_000014.9:g.31129271T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1369Ala	rs759576521	missense variant	-	NC_000014.9:g.31129266G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1370Glu	rs750386576	missense variant	-	NC_000014.9:g.31129261G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1370Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31129263C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1372Ile	rs1487499741	missense variant	-	NC_000014.9:g.31129256G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1373Tyr	rs1486751293	missense variant	-	NC_000014.9:g.31129253G>T	TOPMed
HECTD1	Q9ULT8	p.Ser1373Thr	rs761596142	missense variant	-	NC_000014.9:g.31129254A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1373Pro	rs761596142	missense variant	-	NC_000014.9:g.31129254A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1377Ala	rs763192596	missense variant	-	NC_000014.9:g.31129241C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1377Val	rs763192596	missense variant	-	NC_000014.9:g.31129241C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1377Asp	rs763192596	missense variant	-	NC_000014.9:g.31129241C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1379Leu	rs1201706783	missense variant	-	NC_000014.9:g.31129235G>A	TOPMed
HECTD1	Q9ULT8	p.Ser1380Ile	COSM261247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31129232C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ser1380Asn	rs1487553478	missense variant	-	NC_000014.9:g.31129232C>T	gnomAD
HECTD1	Q9ULT8	p.Ser1380Gly	rs1340684652	missense variant	-	NC_000014.9:g.31129233T>C	gnomAD
HECTD1	Q9ULT8	p.Arg1381Lys	rs1472304612	missense variant	-	NC_000014.9:g.31129229C>T	TOPMed
HECTD1	Q9ULT8	p.Gly1383Arg	rs1322368153	missense variant	-	NC_000014.9:g.31129224C>G	gnomAD
HECTD1	Q9ULT8	p.Ser1384Gly	rs72670356	missense variant	-	NC_000014.9:g.31129221T>C	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1384Asn	rs1393562363	missense variant	-	NC_000014.9:g.31129220C>T	gnomAD
HECTD1	Q9ULT8	p.Ser1385Arg	COSM1477527	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31129218T>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Val1388Met	rs547429166	missense variant	-	NC_000014.9:g.31129209C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1388Leu	rs547429166	missense variant	-	NC_000014.9:g.31129209C>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys1389Arg	rs775103774	missense variant	-	NC_000014.9:g.31129206A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1390Asn	rs920943878	missense variant	-	NC_000014.9:g.31129202C>T	TOPMed
HECTD1	Q9ULT8	p.Val1391Met	rs200985475	missense variant	-	NC_000014.9:g.31129200C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1391Leu	rs200985475	missense variant	-	NC_000014.9:g.31129200C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1393Asn	rs779568622	missense variant	-	NC_000014.9:g.31129193C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1396Asn	rs550393312	missense variant	-	NC_000014.9:g.31129185C>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1398Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31129178C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Gly1400Val	COSM3987619	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31129172C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ser1401Leu	rs777979962	missense variant	-	NC_000014.9:g.31129169G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1402Ala	rs752896331	missense variant	-	NC_000014.9:g.31129167T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys1403Arg	rs368839384	missense variant	-	NC_000014.9:g.31129163T>C	ESP,TOPMed
HECTD1	Q9ULT8	p.Lys1403Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31129162T>A	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1404Met	rs781430645	missense variant	-	NC_000014.9:g.31129160G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1406Trp	rs751568766	missense variant	-	NC_000014.9:g.31129155G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1406Pro	rs202133227	missense variant	-	NC_000014.9:g.31129154C>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1406Gln	rs202133227	missense variant	-	NC_000014.9:g.31129154C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1407Ile	rs761722875	missense variant	-	NC_000014.9:g.31129151C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1411Ile	rs753712447	missense variant	-	NC_000014.9:g.31129140C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met1412Ile	rs763765447	missense variant	-	NC_000014.9:g.31129135C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1415Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31129126A>C	NCI-TCGA
HECTD1	Q9ULT8	p.Val1417Ala	rs1401818956	missense variant	-	NC_000014.9:g.31129121A>G	gnomAD
HECTD1	Q9ULT8	p.His1423Arg	rs369383258	missense variant	-	NC_000014.9:g.31129103T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.His1423Leu	rs369383258	missense variant	-	NC_000014.9:g.31129103T>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1426Val	rs75345169	missense variant	-	NC_000014.9:g.31129095T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1426SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.31129094_31129095insATAC	NCI-TCGA
HECTD1	Q9ULT8	p.Val1427Leu	rs1181103208	missense variant	-	NC_000014.9:g.31129092C>G	gnomAD
HECTD1	Q9ULT8	p.Val1427Phe	rs1181103208	missense variant	-	NC_000014.9:g.31129092C>A	gnomAD
HECTD1	Q9ULT8	p.Val1428LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.31129093_31129094insCT	NCI-TCGA
HECTD1	Q9ULT8	p.Leu1429Val	rs769971819	missense variant	-	NC_000014.9:g.31129086G>C	-
HECTD1	Q9ULT8	p.Leu1429Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31129086G>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ser1430Pro	rs1180318371	missense variant	-	NC_000014.9:g.31129083A>G	gnomAD
HECTD1	Q9ULT8	p.Ser1431Thr	rs1458026867	missense variant	-	NC_000014.9:g.31129080A>T	gnomAD
HECTD1	Q9ULT8	p.Glu1433Ala	rs1482799232	missense variant	-	NC_000014.9:g.31129073T>G	TOPMed
HECTD1	Q9ULT8	p.Val1435Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31129067A>T	NCI-TCGA
HECTD1	Q9ULT8	p.Val1435Ile	rs771616409	missense variant	-	NC_000014.9:g.31129068C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1443Pro	rs770081924	missense variant	-	NC_000014.9:g.31129044A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1445Arg	rs781393992	missense variant	-	NC_000014.9:g.31129038T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1449Gly	rs1439475502	missense variant	-	NC_000014.9:g.31129026T>C	gnomAD
HECTD1	Q9ULT8	p.Thr1452Ala	rs753748185	missense variant	-	NC_000014.9:g.31129017T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1452Ile	rs965270535	missense variant	-	NC_000014.9:g.31129016G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1453Val	rs372829512	missense variant	-	NC_000014.9:g.31129013G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1455Met	rs1378455661	missense variant	-	NC_000014.9:g.31129007G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1459Asp	rs1311569388	missense variant	-	NC_000014.9:g.31128996T>C	TOPMed
HECTD1	Q9ULT8	p.Glu1461Lys	rs759243908	missense variant	-	NC_000014.9:g.31128990C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1464Ile	rs1489289668	missense variant	-	NC_000014.9:g.31128981A>T	gnomAD
HECTD1	Q9ULT8	p.Gly1465Asp	COSM1369530	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31128977C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Gly1465Ala	rs766020309	missense variant	-	NC_000014.9:g.31128977C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1466Ser	COSM3495670	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31128975G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ser1468Gly	rs1215315817	missense variant	-	NC_000014.9:g.31128969T>C	gnomAD
HECTD1	Q9ULT8	p.Ser1469Phe	rs762479037	missense variant	-	NC_000014.9:g.31128965G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1470Phe	rs367637104	missense variant	-	NC_000014.9:g.31128963C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1471Cys	rs748524391	missense variant	-	NC_000014.9:g.31128960G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1471His	rs375059610	missense variant	-	NC_000014.9:g.31128959C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1471Leu	rs375059610	missense variant	-	NC_000014.9:g.31128959C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1471Ser	rs748524391	missense variant	-	NC_000014.9:g.31128960G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1473Ala	rs1450628503	missense variant	-	NC_000014.9:g.31128954G>C	gnomAD
HECTD1	Q9ULT8	p.Gly1474Arg	rs768912046	missense variant	-	NC_000014.9:g.31128951C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1474Trp	rs768912046	missense variant	-	NC_000014.9:g.31128951C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1474Ala	rs1284160779	missense variant	-	NC_000014.9:g.31128950C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1475Gly	rs1216097485	missense variant	-	NC_000014.9:g.31128947T>C	gnomAD
HECTD1	Q9ULT8	p.Ala1478Thr	rs1362569251	missense variant	-	NC_000014.9:g.31128939C>T	gnomAD
HECTD1	Q9ULT8	p.Ile1479Val	rs780207610	missense variant	-	NC_000014.9:g.31128936T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1480Cys	rs1401228434	missense variant	-	NC_000014.9:g.31128932G>C	gnomAD
HECTD1	Q9ULT8	p.Met1481Arg	rs758428010	missense variant	-	NC_000014.9:g.31128929A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1481Thr	rs758428010	missense variant	-	NC_000014.9:g.31128929A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1481Val	rs1412965922	missense variant	-	NC_000014.9:g.31128930T>C	gnomAD
HECTD1	Q9ULT8	p.Ile1483Leu	rs1473639868	missense variant	-	NC_000014.9:g.31128924T>G	gnomAD
HECTD1	Q9ULT8	p.Val1484Ile	rs745901352	missense variant	-	NC_000014.9:g.31128921C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1486Ile	rs777575171	missense variant	-	NC_000014.9:g.31128915C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1488Cys	rs372076268	missense variant	-	NC_000014.9:g.31128908G>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1494Ile	rs767390756	missense variant	-	NC_000014.9:g.31128891C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1495Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31128887G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Glu1501Ala	rs754782224	missense variant	-	NC_000014.9:g.31128869T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1506Gln	rs1355846019	missense variant	-	NC_000014.9:g.31128854C>T	TOPMed
HECTD1	Q9ULT8	p.Ser1509Arg	rs199605586	missense variant	-	NC_000014.9:g.31128844G>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1509Ile	rs1435844986	missense variant	-	NC_000014.9:g.31128845C>A	gnomAD
HECTD1	Q9ULT8	p.Ser1509Gly	rs762378038	missense variant	-	NC_000014.9:g.31128846T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1515Ile	rs1454405452	missense variant	-	NC_000014.9:g.31128827C>A	TOPMed
HECTD1	Q9ULT8	p.Val1518Met	rs374025669	missense variant	-	NC_000014.9:g.31128819C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1518Leu	rs374025669	missense variant	-	NC_000014.9:g.31128819C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1523Asp	rs769038572	missense variant	-	NC_000014.9:g.31128803G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1524Gly	rs1477395652	missense variant	-	NC_000014.9:g.31128800G>C	gnomAD
HECTD1	Q9ULT8	p.Ala1524Ser	rs1186636074	missense variant	-	NC_000014.9:g.31128801C>A	gnomAD
HECTD1	Q9ULT8	p.Met1528Val	rs1244422823	missense variant	-	NC_000014.9:g.31128789T>C	gnomAD
HECTD1	Q9ULT8	p.Ser1529Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31128784G>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ser1530Cys	rs760978985	missense variant	-	NC_000014.9:g.31128782G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1539Leu	rs775702548	missense variant	-	NC_000014.9:g.31128755G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1544Gly	rs1197126457	missense variant	-	NC_000014.9:g.31128741T>C	gnomAD
HECTD1	Q9ULT8	p.Val1549Leu	rs1320360107	missense variant	-	NC_000014.9:g.31128726C>A	gnomAD
HECTD1	Q9ULT8	p.Arg1551Lys	rs772269848	missense variant	-	NC_000014.9:g.31128719C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1556Val	rs545030319	missense variant	-	NC_000014.9:g.31128704G>A	1000Genomes
HECTD1	Q9ULT8	p.Arg1557Trp	rs779029675	missense variant	-	NC_000014.9:g.31128702G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1557Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31128701C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Asn1559Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31128696T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Asn1559His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31128696T>G	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1561Met	rs576724470	missense variant	-	NC_000014.9:g.31128689G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu1566Val	COSM432999	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31128675G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asn1574His	rs200510869	missense variant	-	NC_000014.9:g.31128651T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1575Ser	rs1406389632	missense variant	-	NC_000014.9:g.31128647G>C	TOPMed
HECTD1	Q9ULT8	p.Asn1576Asp	rs758051610	missense variant	-	NC_000014.9:g.31128645T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1576Ser	rs1318116922	missense variant	-	NC_000014.9:g.31128644T>C	TOPMed
HECTD1	Q9ULT8	p.Leu1578Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31128638A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Ala1586Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31128615C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1587Ala	rs749947099	missense variant	-	NC_000014.9:g.31128612T>C	ExAC
HECTD1	Q9ULT8	p.Thr1587Ile	rs1012937687	missense variant	-	NC_000014.9:g.31128006G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1588Ala	rs1229008829	missense variant	-	NC_000014.9:g.31128004A>C	TOPMed
HECTD1	Q9ULT8	p.Ser1588Tyr	rs1307512025	missense variant	-	NC_000014.9:g.31128003G>T	gnomAD
HECTD1	Q9ULT8	p.Ala1593Ser	rs768715036	missense variant	-	NC_000014.9:g.31127989C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1594Arg	rs1264603923	missense variant	-	NC_000014.9:g.31127985T>C	TOPMed
HECTD1	Q9ULT8	p.Pro1597Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31127976G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Asn1598Asp	rs746854990	missense variant	-	NC_000014.9:g.31127974T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1599Phe	COSM4856646	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31127969C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Thr1601Ala	rs758024349	missense variant	-	NC_000014.9:g.31127965T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1601Ile	rs1463408155	missense variant	-	NC_000014.9:g.31127964G>A	TOPMed
HECTD1	Q9ULT8	p.Pro1602Ala	rs750119816	missense variant	-	NC_000014.9:g.31127962G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1603Asp	rs1295737931	missense variant	-	NC_000014.9:g.31127958C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1603Val	rs1295737931	missense variant	-	NC_000014.9:g.31127958C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1604Ala	rs778379153	missense variant	-	NC_000014.9:g.31127956T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1605Ala	rs756772426	missense variant	-	NC_000014.9:g.31127953T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1607Ala	rs755444106	missense variant	-	NC_000014.9:g.31127947T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1607Pro	rs755444106	missense variant	-	NC_000014.9:g.31127947T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1610Leu	rs370727683	missense variant	-	NC_000014.9:g.31127938T>G	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1610CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.31127939A>-	NCI-TCGA
HECTD1	Q9ULT8	p.Met1610Val	rs370727683	missense variant	-	NC_000014.9:g.31127938T>C	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1613Cys	rs560262326	missense variant	-	NC_000014.9:g.31127928G>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1615Ile	rs756591245	missense variant	-	NC_000014.9:g.31127923C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1616Ala	rs1377204468	missense variant	-	NC_000014.9:g.31127920T>C	TOPMed
HECTD1	Q9ULT8	p.Ser1617Gly	rs1218864201	missense variant	-	NC_000014.9:g.31127917T>C	gnomAD
HECTD1	Q9ULT8	p.Ser1619Ile	rs753043488	missense variant	-	NC_000014.9:g.31127910C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1620Ser	rs79845028	missense variant	-	NC_000014.9:g.31127907T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1620Asp	rs767957790	missense variant	-	NC_000014.9:g.31127908T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1621Ala	rs766447879	missense variant	-	NC_000014.9:g.31127904A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1623Ala	COSM4050472	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31127899T>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Thr1623Ile	rs763195575	missense variant	-	NC_000014.9:g.31127898G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1624Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31127896C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1625Pro	rs1275823372	missense variant	-	NC_000014.9:g.31127893T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1626Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31127890T>G	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1626Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31127889G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1626Ala	rs752035560	missense variant	-	NC_000014.9:g.31127890T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1627Asp	rs1457078143	missense variant	-	NC_000014.9:g.31127886A>T	TOPMed
HECTD1	Q9ULT8	p.Ser1629Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31127880G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Val1630Phe	rs373851698	missense variant	-	NC_000014.9:g.31127878C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1631Ser	rs1293480157	missense variant	-	NC_000014.9:g.31127875C>T	gnomAD
HECTD1	Q9ULT8	p.Gln1632Lys	rs1456803504	missense variant	-	NC_000014.9:g.31127872G>T	gnomAD
HECTD1	Q9ULT8	p.Gln1632Arg	rs1351989476	missense variant	-	NC_000014.9:g.31127871T>C	gnomAD
HECTD1	Q9ULT8	p.Asn1636His	rs947856558	missense variant	-	NC_000014.9:g.31127860T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1636Asp	rs947856558	missense variant	-	NC_000014.9:g.31127860T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1637Ala	rs369491723	missense variant	-	NC_000014.9:g.31127857T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1644Ter	COSM6140297	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31127835G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Thr1645Pro	rs377130302	missense variant	-	NC_000014.9:g.31127833T>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1645Ile	rs756897529	missense variant	-	NC_000014.9:g.31127832G>A	ExAC
HECTD1	Q9ULT8	p.Ser1647ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.31127828G>-	NCI-TCGA
HECTD1	Q9ULT8	p.Glu1648Asp	COSM1369529	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31127822C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu1648Asp	rs999670209	missense variant	-	NC_000014.9:g.31127822C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp1650Glu	rs1284838163	missense variant	-	NC_000014.9:g.31127816G>T	TOPMed
HECTD1	Q9ULT8	p.Ser1658Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31127793G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Asp1664Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31123039C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Arg1667Cys	rs1419084398	missense variant	-	NC_000014.9:g.31123030G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1667His	rs371260055	missense variant	-	NC_000014.9:g.31123029C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1670Ser	rs1319870286	missense variant	-	NC_000014.9:g.31123020G>C	gnomAD
HECTD1	Q9ULT8	p.Leu1671Val	rs1470375472	missense variant	-	NC_000014.9:g.31123018G>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1674Gly	rs1185005076	missense variant	-	NC_000014.9:g.31123008T>C	gnomAD
HECTD1	Q9ULT8	p.Asp1676Tyr	rs751999921	missense variant	-	NC_000014.9:g.31123003C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1676Asn	rs751999921	missense variant	-	NC_000014.9:g.31123003C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1679Asp	COSM955259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31122992C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Pro1682His	rs758800109	missense variant	-	NC_000014.9:g.31122984G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1684Ser	rs750699847	missense variant	-	NC_000014.9:g.31122979G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1685Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31122976C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Glu1686Gln	rs765499753	missense variant	-	NC_000014.9:g.31122973C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1687Asp	rs374874773	missense variant	-	NC_000014.9:g.31122968T>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1687Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31122970C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Asp1688Glu	rs759369572	missense variant	-	NC_000014.9:g.31122965A>T	ExAC
HECTD1	Q9ULT8	p.Asp1688Gly	rs767550410	missense variant	-	NC_000014.9:g.31122966T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1689Glu	rs774231157	missense variant	-	NC_000014.9:g.31122962A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1696Pro	rs543564118	missense variant	-	NC_000014.9:g.31122942T>G	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1699His	rs772854185	missense variant	-	NC_000014.9:g.31122932T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr1701His	COSM4050469	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31122928A>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu1702Lys	COSM6140298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31122925C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Met1705Thr	rs747748452	missense variant	-	NC_000014.9:g.31122915A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1709Leu	rs751510416	missense variant	-	NC_000014.9:g.31121495C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1709His	rs751510416	missense variant	-	NC_000014.9:g.31121495C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1710Ala	rs766236694	missense variant	-	NC_000014.9:g.31121493G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1710Thr	rs766236694	missense variant	-	NC_000014.9:g.31121493G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln1713His	rs185437379	missense variant	-	NC_000014.9:g.31121482T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1714Cys	rs1202696473	missense variant	-	NC_000014.9:g.31121481G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1714His	rs370774239	missense variant	-	NC_000014.9:g.31121480C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1715Ter	rs776310462	stop gained	-	NC_000014.9:g.31121478G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1715Pro	rs369487877	missense variant	-	NC_000014.9:g.31121477C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1715Gln	rs369487877	missense variant	-	NC_000014.9:g.31121477C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1716Thr	rs539325099	missense variant	-	NC_000014.9:g.31121475C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1717Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31121471C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Arg1719Cys	rs1301137243	missense variant	-	NC_000014.9:g.31121466G>A	gnomAD
HECTD1	Q9ULT8	p.Arg1719His	rs1442954371	missense variant	-	NC_000014.9:g.31121465C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1720Cys	rs776147746	missense variant	-	NC_000014.9:g.31121462G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1720Phe	rs776147746	missense variant	-	NC_000014.9:g.31121462G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp1721Gly	rs1330352440	missense variant	-	NC_000014.9:g.31121459T>C	gnomAD
HECTD1	Q9ULT8	p.Thr1723Met	rs746293283	missense variant	-	NC_000014.9:g.31121453G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His1724Arg	rs1236293019	missense variant	-	NC_000014.9:g.31121450T>C	gnomAD
HECTD1	Q9ULT8	p.His1725Pro	rs779400024	missense variant	-	NC_000014.9:g.31121447T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.His1725Arg	rs779400024	missense variant	-	NC_000014.9:g.31121447T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1729Leu	rs754633025	missense variant	-	NC_000014.9:g.31121435G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1730Arg	rs1380093858	missense variant	-	NC_000014.9:g.31121432T>C	gnomAD
HECTD1	Q9ULT8	p.Val1734Leu	COSM955258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31121421C>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Val1734Ile	rs1481780562	missense variant	-	NC_000014.9:g.31121421C>T	gnomAD
HECTD1	Q9ULT8	p.Ala1736Thr	rs752768278	missense variant	-	NC_000014.9:g.31121415C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1738Glu	rs766359449	missense variant	-	NC_000014.9:g.31121408G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1739Glu	rs377640342	missense variant	-	NC_000014.9:g.31121405C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1741Gln	rs765959865	missense variant	-	NC_000014.9:g.31121399C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1741Leu	rs765959865	missense variant	-	NC_000014.9:g.31121399C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1743Phe	rs571876830	missense variant	-	NC_000014.9:g.31121394T>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1743Thr	rs201612618	missense variant	-	NC_000014.9:g.31121393A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1743Leu	rs571876830	missense variant	-	NC_000014.9:g.31121394T>G	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1743Val	rs571876830	missense variant	-	NC_000014.9:g.31121394T>C	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1745Gln	rs760329878	missense variant	-	NC_000014.9:g.31121388C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1747Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31119866C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Glu1749Gly	rs1346166478	missense variant	-	NC_000014.9:g.31119859T>C	gnomAD
HECTD1	Q9ULT8	p.Glu1750Gln	COSM6140299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31119857C>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu1752Lys	rs1188805106	missense variant	-	NC_000014.9:g.31119851C>T	gnomAD
HECTD1	Q9ULT8	p.Thr1753Ala	rs1246490387	missense variant	-	NC_000014.9:g.31119848T>C	TOPMed
HECTD1	Q9ULT8	p.Lys1754Arg	rs763714471	missense variant	-	NC_000014.9:g.31119844T>C	ExAC
HECTD1	Q9ULT8	p.Gly1756Glu	rs550989302	missense variant	-	NC_000014.9:g.31119838C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1757Cys	rs767167801	missense variant	-	NC_000014.9:g.31119836G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1757His	rs1261151410	missense variant	-	NC_000014.9:g.31119835C>T	gnomAD
HECTD1	Q9ULT8	p.Arg1758Gln	rs368911080	missense variant	-	NC_000014.9:g.31119832C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1758Trp	rs775674085	missense variant	-	NC_000014.9:g.31119833G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp1762Gly	rs771464276	missense variant	-	NC_000014.9:g.31119820T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1763Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31119817T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Tyr1765Phe	rs763283377	missense variant	-	NC_000014.9:g.31119811T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1766Leu	rs1292741347	missense variant	-	NC_000014.9:g.31119809C>A	gnomAD
HECTD1	Q9ULT8	p.Leu1767Arg	rs945939580	missense variant	-	NC_000014.9:g.31119805A>C	TOPMed
HECTD1	Q9ULT8	p.Lys1768Arg	rs1293348086	missense variant	-	NC_000014.9:g.31119802T>C	gnomAD
HECTD1	Q9ULT8	p.Gln1770Arg	rs770040342	missense variant	-	NC_000014.9:g.31119796T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1770Leu	rs770040342	missense variant	-	NC_000014.9:g.31119796T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1774Ser	rs988270281	missense variant	-	NC_000014.9:g.31119784A>G	TOPMed
HECTD1	Q9ULT8	p.Val1775Ile	rs374797182	missense variant	-	NC_000014.9:g.31119782C>T	ESP,ExAC,TOPMed
HECTD1	Q9ULT8	p.Pro1776Ser	COSM5048904	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31119779G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Pro1776Arg	rs1361447512	missense variant	-	NC_000014.9:g.31119778G>C	gnomAD
HECTD1	Q9ULT8	p.Ala1777Val	rs747046399	missense variant	-	NC_000014.9:g.31119775G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1779His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31119770C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Arg1784His	rs757207097	missense variant	-	NC_000014.9:g.31119754C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1785Ser	rs1441329585	missense variant	-	NC_000014.9:g.31119751G>C	gnomAD
HECTD1	Q9ULT8	p.Thr1785Ala	rs1399242201	missense variant	-	NC_000014.9:g.31119752T>C	TOPMed
HECTD1	Q9ULT8	p.Gln1788Pro	rs1172603022	missense variant	-	NC_000014.9:g.31119742T>G	gnomAD
HECTD1	Q9ULT8	p.Thr1791Ala	rs753626442	missense variant	-	NC_000014.9:g.31119734T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1791Ile	rs777593934	missense variant	-	NC_000014.9:g.31119733G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1793Ile	rs1381649613	missense variant	-	NC_000014.9:g.31119728G>T	TOPMed
HECTD1	Q9ULT8	p.Glu1794Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31119725C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Pro1796Ser	rs755932717	missense variant	-	NC_000014.9:g.31119719G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1796Thr	rs755932717	missense variant	-	NC_000014.9:g.31119719G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1797Thr	rs1254608115	missense variant	-	NC_000014.9:g.31119716G>T	gnomAD
HECTD1	Q9ULT8	p.Pro1798Leu	rs1452854567	missense variant	-	NC_000014.9:g.31119712G>A	TOPMed
HECTD1	Q9ULT8	p.Pro1798GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.31119712G>-	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1800Ser	rs1252578961	missense variant	-	NC_000014.9:g.31116455G>C	TOPMed
HECTD1	Q9ULT8	p.Thr1800Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31116456T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Pro1801Leu	rs371856031	missense variant	-	NC_000014.9:g.31116452G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1801Ser	rs762316556	missense variant	-	NC_000014.9:g.31116453G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.His1802Pro	rs1418855304	missense variant	-	NC_000014.9:g.31116449T>G	TOPMed
HECTD1	Q9ULT8	p.Leu1805Ile	rs143401795	missense variant	-	NC_000014.9:g.31116441G>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu1805Phe	rs143401795	missense variant	-	NC_000014.9:g.31116441G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1807Gly	rs762236240	missense variant	-	NC_000014.9:g.31116434T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1808Val	rs1377195624	missense variant	-	NC_000014.9:g.31116431T>A	gnomAD
HECTD1	Q9ULT8	p.Glu1808Asp	rs1172991793	missense variant	-	NC_000014.9:g.31116430T>G	gnomAD
HECTD1	Q9ULT8	p.Glu1810Lys	rs1361802612	missense variant	-	NC_000014.9:g.31116426C>T	gnomAD
HECTD1	Q9ULT8	p.Glu1810Val	rs1183537408	missense variant	-	NC_000014.9:g.31116425T>A	gnomAD
HECTD1	Q9ULT8	p.Cys1811Ser	rs764349966	missense variant	-	NC_000014.9:g.31116422C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Cys1811Tyr	rs764349966	missense variant	-	NC_000014.9:g.31116422C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1812Ile	rs760922784	missense variant	-	NC_000014.9:g.31116419G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1813Leu	rs547778199	missense variant	-	NC_000014.9:g.31116416G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1818Thr	rs1349024338	missense variant	-	NC_000014.9:g.31116402C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1818Val	rs201177803	missense variant	-	NC_000014.9:g.31116401G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu1819Phe	rs1240050334	missense variant	-	NC_000014.9:g.31116399G>A	gnomAD
HECTD1	Q9ULT8	p.Thr1820Ser	rs920879633	missense variant	-	NC_000014.9:g.31116395G>C	TOPMed
HECTD1	Q9ULT8	p.Val1823Ile	rs769839072	missense variant	-	NC_000014.9:g.31116387C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1824Ile	rs1306775454	missense variant	-	NC_000014.9:g.31116383G>A	TOPMed
HECTD1	Q9ULT8	p.Thr1828Met	rs201841460	missense variant	-	NC_000014.9:g.31116371G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1830His	rs1258259216	missense variant	-	NC_000014.9:g.31116365C>T	TOPMed
HECTD1	Q9ULT8	p.Arg1830Cys	rs367653309	missense variant	-	NC_000014.9:g.31116366G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1832Ile	rs558514626	missense variant	-	NC_000014.9:g.31116360C>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1833Val	rs1358437121	missense variant	-	NC_000014.9:g.31116356T>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu1834Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31116353A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Pro1835Thr	rs1158079701	missense variant	-	NC_000014.9:g.31116351G>T	gnomAD
HECTD1	Q9ULT8	p.Leu1836Phe	rs1172913376	missense variant	-	NC_000014.9:g.31116348G>A	TOPMed
HECTD1	Q9ULT8	p.Thr1837Asn	rs749934681	missense variant	-	NC_000014.9:g.31116344G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1837Ile	rs749934681	missense variant	-	NC_000014.9:g.31116344G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1838Asp	rs1416672366	missense variant	-	NC_000014.9:g.31116342T>C	gnomAD
HECTD1	Q9ULT8	p.Phe1839Cys	rs1185226874	missense variant	-	NC_000014.9:g.31116338A>C	gnomAD
HECTD1	Q9ULT8	p.Ser1841Ter	rs1357929450	stop gained	-	NC_000014.9:g.31116332G>T	TOPMed
HECTD1	Q9ULT8	p.Ile1843Val	rs200069531	missense variant	-	NC_000014.9:g.31116327T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr1845His	rs754243031	missense variant	-	NC_000014.9:g.31116321A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr1846His	rs764552977	missense variant	-	NC_000014.9:g.31116318A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr1846Cys	rs536602982	missense variant	-	NC_000014.9:g.31116317T>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys1849Gln	rs1311766686	missense variant	-	NC_000014.9:g.31116309T>G	TOPMed
HECTD1	Q9ULT8	p.Leu1850Trp	rs569672320	missense variant	-	NC_000014.9:g.31116305A>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1851Phe	rs759720390	missense variant	-	NC_000014.9:g.31116303G>A	ExAC
HECTD1	Q9ULT8	p.Leu1851Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31116303G>T	NCI-TCGA
HECTD1	Q9ULT8	p.Gly1857Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31116285C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Asn1858Ser	rs774548815	missense variant	-	NC_000014.9:g.31116281T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1859Ala	rs748124591	missense variant	-	NC_000014.9:g.31116278A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1865Thr	rs776658432	missense variant	-	NC_000014.9:g.31116260C>G	ExAC
HECTD1	Q9ULT8	p.Arg1866His	rs746711648	missense variant	-	NC_000014.9:g.31116257C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1866Cys	rs202075322	missense variant	-	NC_000014.9:g.31116258G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Trp1868Arg	rs1393397121	missense variant	-	NC_000014.9:g.31116252A>G	gnomAD
HECTD1	Q9ULT8	p.Pro1870Ser	rs779827286	missense variant	-	NC_000014.9:g.31116246G>A	ExAC
HECTD1	Q9ULT8	p.Thr1873Lys	rs778364529	missense variant	-	NC_000014.9:g.31116236G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1873Ile	rs778364529	missense variant	-	NC_000014.9:g.31116236G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met1875Ile	rs768477551	missense variant	-	NC_000014.9:g.31114334C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met1875Thr	rs776710862	missense variant	-	NC_000014.9:g.31114335A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1877Gly	rs760580603	missense variant	-	NC_000014.9:g.31114330T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1877Ser	rs1407696068	missense variant	-	NC_000014.9:g.31114328T>A	gnomAD
HECTD1	Q9ULT8	p.Met1879Val	rs1425923991	missense variant	-	NC_000014.9:g.31114324T>C	TOPMed
HECTD1	Q9ULT8	p.Met1879Ile	rs1420974122	missense variant	-	NC_000014.9:g.31114322C>T	gnomAD
HECTD1	Q9ULT8	p.Lys1880Met	rs370692797	missense variant	-	NC_000014.9:g.31114320T>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1885Ala	rs373364026	missense variant	-	NC_000014.9:g.31114305T>G	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1885Lys	rs61976859	missense variant	-	NC_000014.9:g.31114306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1885Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31114304T>G	NCI-TCGA
HECTD1	Q9ULT8	p.Asn1888LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.31114295_31114296insT	NCI-TCGA
HECTD1	Q9ULT8	p.Gly1889Glu	rs1488951528	missense variant	-	NC_000014.9:g.31114293C>T	gnomAD
HECTD1	Q9ULT8	p.Gly1892Ala	rs1302254350	missense variant	-	NC_000014.9:g.31114058C>G	TOPMed
HECTD1	Q9ULT8	p.Gly1892Cys	rs764146288	missense variant	-	NC_000014.9:g.31114059C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys1893Trp	COSM71036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31114054G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Cys1893Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31114055C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ile1896Val	rs760501818	missense variant	-	NC_000014.9:g.31114047T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1896Thr	rs775461833	missense variant	-	NC_000014.9:g.31114046A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1897Asp	rs1485328261	missense variant	-	NC_000014.9:g.31114042C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.His1898Arg	rs1005292372	missense variant	-	NC_000014.9:g.31114040T>C	TOPMed
HECTD1	Q9ULT8	p.Leu1903Val	rs1278079265	missense variant	-	NC_000014.9:g.31114026G>C	gnomAD
HECTD1	Q9ULT8	p.Asp1906Gly	rs1312558302	missense variant	-	NC_000014.9:g.31114016T>C	gnomAD
HECTD1	Q9ULT8	p.Lys1910Asn	COSM4050466	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31114003C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Asp1912Asn	rs773998104	missense variant	-	NC_000014.9:g.31113999C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1912Tyr	rs773998104	missense variant	-	NC_000014.9:g.31113999C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1914Val	rs1465602726	missense variant	-	NC_000014.9:g.31113993T>C	TOPMed
HECTD1	Q9ULT8	p.Ile1914Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31113991T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Thr1915Ser	rs999819901	missense variant	-	NC_000014.9:g.31113989G>C	gnomAD
HECTD1	Q9ULT8	p.Gln1918Ter	rs770555933	stop gained	-	NC_000014.9:g.31113981G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1923Thr	rs199501211	missense variant	-	NC_000014.9:g.31113966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1927Cys	rs569402971	missense variant	-	NC_000014.9:g.31113954G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1927His	rs1157359636	missense variant	-	NC_000014.9:g.31113953C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.His1928Arg	rs201422760	missense variant	-	NC_000014.9:g.31113950T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His1928Gln	rs1156468578	missense variant	-	NC_000014.9:g.31113949G>C	TOPMed
HECTD1	Q9ULT8	p.Thr1934Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31113933T>C	NCI-TCGA
HECTD1	Q9ULT8	p.Ser1937Asn	rs758673675	missense variant	-	NC_000014.9:g.31113923C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1937Thr	rs758673675	missense variant	-	NC_000014.9:g.31113923C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1938Val	rs750560486	missense variant	-	NC_000014.9:g.31113921T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1941Ser	rs765267189	missense variant	-	NC_000014.9:g.31113911T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1942Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31113908C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Arg1942Lys	rs904340526	missense variant	-	NC_000014.9:g.31113908C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Cys1944Phe	rs752589825	missense variant	-	NC_000014.9:g.31113902C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.His1957Gln	rs1396918524	missense variant	-	NC_000014.9:g.31113470A>C	gnomAD
HECTD1	Q9ULT8	p.Thr1959Arg	COSM4420335	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113465G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Thr1959Ile	rs562158110	missense variant	-	NC_000014.9:g.31113465G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys1960Glu	rs1461563701	missense variant	-	NC_000014.9:g.31113463T>C	gnomAD
HECTD1	Q9ULT8	p.Ser1961Ala	rs1371364897	missense variant	-	NC_000014.9:g.31113460A>C	gnomAD
HECTD1	Q9ULT8	p.Asn1964Lys	rs1171051644	missense variant	-	NC_000014.9:g.31113449G>T	TOPMed
HECTD1	Q9ULT8	p.Gln1965His	rs1451190682	missense variant	-	NC_000014.9:g.31113446C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln1965Arg	rs1168238787	missense variant	-	NC_000014.9:g.31113447T>C	gnomAD
HECTD1	Q9ULT8	p.Gly1966Arg	rs751459067	missense variant	-	NC_000014.9:g.31113445C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1966Glu	rs1192770894	missense variant	-	NC_000014.9:g.31113444C>T	gnomAD
HECTD1	Q9ULT8	p.Ala1967Thr	COSM1369525	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113442C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ser1969Phe	COSM3495668	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113435G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Thr1970Ile	rs1452232186	missense variant	-	NC_000014.9:g.31113432G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu1971Phe	rs766183572	missense variant	-	NC_000014.9:g.31113430G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1973Asn	rs762748615	missense variant	-	NC_000014.9:g.31113423C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1975Gly	rs930122499	missense variant	-	NC_000014.9:g.31113417T>C	TOPMed
HECTD1	Q9ULT8	p.Ile1976Val	rs918361032	missense variant	-	NC_000014.9:g.31113415T>C	TOPMed
HECTD1	Q9ULT8	p.Leu1977Val	rs772740373	missense variant	-	NC_000014.9:g.31113412G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1978His	rs764935981	missense variant	-	NC_000014.9:g.31113409T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1980Ile	rs367742562	missense variant	-	NC_000014.9:g.31113402G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1980Ala	rs761284384	missense variant	-	NC_000014.9:g.31113403T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1984Ser	rs985525961	missense variant	-	NC_000014.9:g.31113391G>A	TOPMed
HECTD1	Q9ULT8	p.Ala1986Ser	rs370850256	missense variant	-	NC_000014.9:g.31113385C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1986Val	rs776094793	missense variant	-	NC_000014.9:g.31113384G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1990Ser	rs376711430	missense variant	-	NC_000014.9:g.31113372T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1990Ile	rs376711430	missense variant	-	NC_000014.9:g.31113372T>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1991Glu	rs746177248	missense variant	-	NC_000014.9:g.31113369C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1992Arg	rs200609915	missense variant	-	NC_000014.9:g.31113366T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1994Phe	rs371010804	missense variant	-	NC_000014.9:g.31113360G>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1997Leu	rs1379115787	missense variant	-	NC_000014.9:g.31113352C>G	gnomAD
HECTD1	Q9ULT8	p.Glu1998LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.31113349C>-	NCI-TCGA
HECTD1	Q9ULT8	p.Glu1998Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31113349C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Arg2005His	rs756137642	missense variant	-	NC_000014.9:g.31113327C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2005Cys	rs201210477	missense variant	-	NC_000014.9:g.31113328G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2007Val	rs751510524	missense variant	-	NC_000014.9:g.31113322G>C	ExAC
HECTD1	Q9ULT8	p.Tyr2008Cys	rs758190151	missense variant	-	NC_000014.9:g.31113318T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2009Leu	rs183119059	missense variant	-	NC_000014.9:g.31113316T>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Val2010Ala	rs1347584814	missense variant	-	NC_000014.9:g.31113312A>G	gnomAD
HECTD1	Q9ULT8	p.Ala2011Ser	rs368837991	missense variant	-	NC_000014.9:g.31113310C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala2011Thr	rs368837991	missense variant	-	NC_000014.9:g.31113310C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2012Gly	rs377055705	missense variant	-	NC_000014.9:g.31113307T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2014Arg	rs753504194	missense variant	-	NC_000014.9:g.31113300G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2016Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31113294G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Ser2016Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31113294G>C	NCI-TCGA
HECTD1	Q9ULT8	p.Ser2016Ala	rs1290337697	missense variant	-	NC_000014.9:g.31113295A>C	gnomAD
HECTD1	Q9ULT8	p.Arg2017Ile	COSM955256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113291C>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ile2018Met	rs763724166	missense variant	-	NC_000014.9:g.31113287T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln2020Leu	rs1354851610	missense variant	-	NC_000014.9:g.31113282T>A	gnomAD
HECTD1	Q9ULT8	p.Gly2023Asp	rs748217626	missense variant	-	NC_000014.9:g.31113186C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly2023Val	rs748217626	missense variant	-	NC_000014.9:g.31113186C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2024Gly	rs779911615	missense variant	-	NC_000014.9:g.31113183T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2025Gly	rs758331578	missense variant	-	NC_000014.9:g.31113180T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2027Leu	rs1315794	missense variant	-	NC_000014.9:g.31113174G>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2027Pro	rs1315794	missense variant	-	NC_000014.9:g.31113174G>C	UniProt,dbSNP
HECTD1	Q9ULT8	p.Leu2027Pro	VAR_067707	missense variant	-	NC_000014.9:g.31113174G>C	UniProt
HECTD1	Q9ULT8	p.Pro2027Arg	rs1315794	missense variant	-	NC_000014.9:g.31113174G>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2027Pro	VAR_067707	Missense	-	-	UniProt
HECTD1	Q9ULT8	p.Gln2028Glu	rs778802763	missense variant	-	NC_000014.9:g.31113172G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln2028Arg	rs1201934540	missense variant	-	NC_000014.9:g.31113171T>C	TOPMed
HECTD1	Q9ULT8	p.Pro2032Leu	rs756958009	missense variant	-	NC_000014.9:g.31113159G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2034Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31113154C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Asp2034Gly	rs1160929159	missense variant	-	NC_000014.9:g.31113153T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr2037Ile	rs763773425	missense variant	-	NC_000014.9:g.31113144G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2041Met	COSM1477526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31113131A>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ile2041LeuPheSerTerUnkUnk	rs758518381	frameshift	-	NC_000014.9:g.31113133T>-	NCI-TCGA,NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ile2045Val	rs1369531764	missense variant	-	NC_000014.9:g.31113121T>C	gnomAD
HECTD1	Q9ULT8	p.Gln2048Ter	rs760327911	stop gained	-	NC_000014.9:g.31113112G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2049Thr	rs1371986394	missense variant	-	NC_000014.9:g.31113108A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2051Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31112541T>A	NCI-TCGA
HECTD1	Q9ULT8	p.Pro2052Ser	rs1452288299	missense variant	-	NC_000014.9:g.31112540G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2052Gln	rs1272319871	missense variant	-	NC_000014.9:g.31112539G>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2055Val	rs574897803	missense variant	-	NC_000014.9:g.31112531G>C	1000Genomes
HECTD1	Q9ULT8	p.Ser2057Asn	rs755807387	missense variant	-	NC_000014.9:g.31112524C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp2062Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31112510C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Leu2067Ile	rs377187618	missense variant	-	NC_000014.9:g.31112495A>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2069Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31112487G>T	NCI-TCGA
HECTD1	Q9ULT8	p.Phe2073Leu	rs1224105887	missense variant	-	NC_000014.9:g.31112475A>C	gnomAD
HECTD1	Q9ULT8	p.Ile2075Thr	rs1349981451	missense variant	-	NC_000014.9:g.31112470A>G	gnomAD
HECTD1	Q9ULT8	p.Phe2077Leu	rs773540655	missense variant	-	NC_000014.9:g.31112465A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2078Lys	rs765481555	missense variant	-	NC_000014.9:g.31112462C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr2079Ser	rs776671501	missense variant	-	NC_000014.9:g.31112458G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr2079Ala	rs762056004	missense variant	-	NC_000014.9:g.31112459T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln2081Lys	rs768798124	missense variant	-	NC_000014.9:g.31112453G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys2086Arg	rs367624417	missense variant	-	NC_000014.9:g.31112438A>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala2091Thr	rs749145586	missense variant	-	NC_000014.9:g.31112423C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2095Val	rs764222422	missense variant	-	NC_000014.9:g.31109594T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Trp2097Arg	rs1440609351	missense variant	-	NC_000014.9:g.31109588A>G	TOPMed
HECTD1	Q9ULT8	p.Arg2101Ter	rs978402707	stop gained	-	NC_000014.9:g.31109576G>A	TOPMed
HECTD1	Q9ULT8	p.Arg2101Gln	rs775411264	missense variant	-	NC_000014.9:g.31109575C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2102Cys	rs368372102	missense variant	-	NC_000014.9:g.31109573G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2102His	rs749271615	missense variant	-	NC_000014.9:g.31109572C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2103Gly	rs773224017	missense variant	-	NC_000014.9:g.31109569T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2106Leu	rs769714931	missense variant	-	NC_000014.9:g.31109561C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2108Ter	rs1458971793	stop gained	-	NC_000014.9:g.31109555G>A	gnomAD
HECTD1	Q9ULT8	p.Thr2109Met	rs1412854674	missense variant	-	NC_000014.9:g.31109551G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr2112Ile	rs1423238381	missense variant	-	NC_000014.9:g.31109542G>A	gnomAD
HECTD1	Q9ULT8	p.Ser2113Thr	rs768168750	missense variant	-	NC_000014.9:g.31109539C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser2114Thr	rs1183462170	missense variant	-	NC_000014.9:g.31109536C>G	gnomAD
HECTD1	Q9ULT8	p.Val2115Gly	rs199747097	missense variant	-	NC_000014.9:g.31109533A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2115Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31109533A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Arg2117Gln	rs779568465	missense variant	-	NC_000014.9:g.31109527C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2118Asn	rs1268288683	missense variant	-	NC_000014.9:g.31109525C>T	gnomAD
HECTD1	Q9ULT8	p.Asp2119Asn	rs371125720	missense variant	-	NC_000014.9:g.31109522C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2120Ser	rs1257517134	missense variant	-	NC_000014.9:g.31109519G>A	TOPMed
HECTD1	Q9ULT8	p.Gly2121Glu	COSM4820827	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31109515C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Phe2123Leu	rs1229351405	missense variant	-	NC_000014.9:g.31109508A>T	gnomAD
HECTD1	Q9ULT8	p.Arg2124Ter	rs535430244	stop gained	-	NC_000014.9:g.31109507G>A	NCI-TCGA,NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg2124Gln	rs376151633	missense variant	-	NC_000014.9:g.31109506C>T	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2125Leu	rs373214965	missense variant	-	NC_000014.9:g.31109504C>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2125Ile	rs373214965	missense variant	-	NC_000014.9:g.31109504C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2127Cys	rs1182846844	missense variant	-	NC_000014.9:g.31109498G>A	TOPMed
HECTD1	Q9ULT8	p.Val2135Ala	rs754140005	missense variant	-	NC_000014.9:g.31109473A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2136Leu	rs377110842	missense variant	-	NC_000014.9:g.31109470G>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2137Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31109468G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Gly2138Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31109464C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Glu2139Lys	rs867585800	missense variant	-	NC_000014.9:g.31109462C>T	gnomAD
HECTD1	Q9ULT8	p.Met2142Arg	rs760778778	missense variant	-	NC_000014.9:g.31109452A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2147Ser	rs1186442795	missense variant	-	NC_000014.9:g.31109437T>C	gnomAD
HECTD1	Q9ULT8	p.Met2149Leu	rs149608356	missense variant	-	NC_000014.9:g.31109432T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2149Leu	rs149608356	missense variant	-	NC_000014.9:g.31109432T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2149Val	rs149608356	missense variant	-	NC_000014.9:g.31109432T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln2150Arg	rs1487523398	missense variant	-	NC_000014.9:g.31109428T>C	gnomAD
HECTD1	Q9ULT8	p.Ile2151Met	rs1248274772	missense variant	-	NC_000014.9:g.31109424T>C	gnomAD
HECTD1	Q9ULT8	p.Asp2154His	rs1266642927	missense variant	-	NC_000014.9:g.31109417C>G	gnomAD
HECTD1	Q9ULT8	p.Asp2154Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31109417C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Arg2155Gln	rs773349079	missense variant	-	NC_000014.9:g.31109413C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2159Ile	COSM5478674	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31109402G>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Glu2160Gln	rs761713038	missense variant	-	NC_000014.9:g.31109399C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2164Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107694A>G	NCI-TCGA
HECTD1	Q9ULT8	p.Thr2174Ala	rs1362884918	missense variant	-	NC_000014.9:g.31107665T>C	gnomAD
HECTD1	Q9ULT8	p.Tyr2178Cys	rs1231392317	missense variant	-	NC_000014.9:g.31107652T>C	gnomAD
HECTD1	Q9ULT8	p.Ala2182Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107641C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Glu2184Gly	rs949226220	missense variant	-	NC_000014.9:g.31107634T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr2188Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107622G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Asp2197Gly	rs1409301084	missense variant	-	NC_000014.9:g.31107595T>C	gnomAD
HECTD1	Q9ULT8	p.Asn2198Asp	rs759747608	missense variant	-	NC_000014.9:g.31107593T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2200Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107587G>A	NCI-TCGA
HECTD1	Q9ULT8	p.Asp2202Glu	rs765255463	missense variant	-	NC_000014.9:g.31107579A>T	ExAC
HECTD1	Q9ULT8	p.Ser2204Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107574G>C	NCI-TCGA
HECTD1	Q9ULT8	p.Arg2205His	rs776580004	missense variant	-	NC_000014.9:g.31107571C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2205Leu	rs776580004	missense variant	-	NC_000014.9:g.31107571C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2205Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107572G>C	NCI-TCGA
HECTD1	Q9ULT8	p.His2206Gln	rs760454073	missense variant	-	NC_000014.9:g.31107567G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2213Met	rs555586603	missense variant	-	NC_000014.9:g.31107235A>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2215Leu	rs1160742226	missense variant	-	NC_000014.9:g.31107228G>A	gnomAD
HECTD1	Q9ULT8	p.Pro2216Ser	rs1473239142	missense variant	-	NC_000014.9:g.31107226G>A	gnomAD
HECTD1	Q9ULT8	p.Tyr2218Asp	rs374926613	missense variant	-	NC_000014.9:g.31107220A>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2226Val	rs1256535651	missense variant	-	NC_000014.9:g.31107196G>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe2227Leu	rs1270165072	missense variant	-	NC_000014.9:g.31107191G>C	gnomAD
HECTD1	Q9ULT8	p.Phe2231Leu	rs566773532	missense variant	-	NC_000014.9:g.31107181A>G	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln2233Arg	rs1355656329	missense variant	-	NC_000014.9:g.31107174T>C	gnomAD
HECTD1	Q9ULT8	p.Asp2234Glu	rs183440070	missense variant	-	NC_000014.9:g.31107170A>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2237Ter	rs770309354	stop gained	-	NC_000014.9:g.31107163C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2237Lys	rs770309354	missense variant	-	NC_000014.9:g.31107163C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2239Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107157C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Arg2240Lys	rs748563826	missense variant	-	NC_000014.9:g.31107153C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2241Leu	rs1315441491	missense variant	-	NC_000014.9:g.31107151T>G	gnomAD
HECTD1	Q9ULT8	p.Thr2242Met	rs781713220	missense variant	-	NC_000014.9:g.31107147G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2244Gln	rs747245700	missense variant	-	NC_000014.9:g.31107141A>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His2246Tyr	COSM1756889	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31107136G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.His2246Asp	rs1167819535	missense variant	-	NC_000014.9:g.31107136G>C	TOPMed
HECTD1	Q9ULT8	p.Ile2250Thr	rs1353738396	missense variant	-	NC_000014.9:g.31107123A>G	TOPMed
HECTD1	Q9ULT8	p.Leu2252Met	rs368302820	missense variant	-	NC_000014.9:g.31107118A>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys2254Asn	rs1386291117	missense variant	-	NC_000014.9:g.31107110T>A	gnomAD
HECTD1	Q9ULT8	p.Lys2254Arg	rs758476628	missense variant	-	NC_000014.9:g.31107111T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2259Ser	rs750503446	missense variant	-	NC_000014.9:g.31107096T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2260Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107093C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Pro2265Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107078G>C	NCI-TCGA
HECTD1	Q9ULT8	p.Pro2269Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107067G>T	NCI-TCGA
HECTD1	Q9ULT8	p.Phe2270Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107063A>C	NCI-TCGA
HECTD1	Q9ULT8	p.Phe2271LeuPheSerTerUnkUnk	COSM2194769	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31107059A>-	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Met2274Thr	rs1250146534	missense variant	-	NC_000014.9:g.31107051A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2274Ile	rs1189376938	missense variant	-	NC_000014.9:g.31107050C>T	gnomAD
HECTD1	Q9ULT8	p.Met2276Val	rs1353547619	missense variant	-	NC_000014.9:g.31107046T>C	TOPMed
HECTD1	Q9ULT8	p.Gly2277Ser	rs1414085350	missense variant	-	NC_000014.9:g.31107043C>T	TOPMed
HECTD1	Q9ULT8	p.Asp2278Asn	rs1342013633	missense variant	-	NC_000014.9:g.31107040C>T	gnomAD
HECTD1	Q9ULT8	p.Ile2279Ser	rs909609152	missense variant	-	NC_000014.9:g.31107036A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2279Val	rs763987136	missense variant	-	NC_000014.9:g.31107037T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser2281Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107030C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Asn2282Ser	rs1358377776	missense variant	-	NC_000014.9:g.31107027T>C	gnomAD
HECTD1	Q9ULT8	p.Met2283Arg	rs1292305778	missense variant	-	NC_000014.9:g.31107024A>C	gnomAD
HECTD1	Q9ULT8	p.Met2283Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31107023C>G	NCI-TCGA
HECTD1	Q9ULT8	p.Ser2284Asn	rs756018881	missense variant	-	NC_000014.9:g.31107021C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2284Arg	rs1382014349	missense variant	-	NC_000014.9:g.31107020A>C	gnomAD
HECTD1	Q9ULT8	p.Lys2285Glu	rs752594723	missense variant	-	NC_000014.9:g.31107019T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2287Val	rs1299405274	missense variant	-	NC_000014.9:g.31107013T>C	gnomAD
HECTD1	Q9ULT8	p.Ile2287Thr	rs767325037	missense variant	-	NC_000014.9:g.31107012A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2287Met	rs190455305	missense variant	-	NC_000014.9:g.31107011A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr2288Phe	rs768379626	missense variant	-	NC_000014.9:g.31107009T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr2288Asn	rs766037823	missense variant	-	NC_000014.9:g.31107010A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr2288Cys	rs768379626	missense variant	-	NC_000014.9:g.31107009T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2289Lys	rs772743407	missense variant	-	NC_000014.9:g.31107007C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser2290Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.31107003G>T	NCI-TCGA
HECTD1	Q9ULT8	p.Arg2291Gln	rs769387867	missense variant	-	NC_000014.9:g.31107000C>T	ExAC
HECTD1	Q9ULT8	p.Arg2294Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31106991C>T	NCI-TCGA
HECTD1	Q9ULT8	p.His2297Arg	rs202003389	missense variant	-	NC_000014.9:g.31106982T>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys2298Arg	rs746653088	missense variant	-	NC_000014.9:g.31106980A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser2301Gly	rs769144601	missense variant	-	NC_000014.9:g.31106971T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln2302His	rs747376160	missense variant	-	NC_000014.9:g.31106966C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2303Phe	rs1278629628	missense variant	-	NC_000014.9:g.31106964G>A	TOPMed
HECTD1	Q9ULT8	p.Thr2307Lys	rs1245126892	missense variant	-	NC_000014.9:g.31106952G>T	gnomAD
HECTD1	Q9ULT8	p.Glu2309Gly	rs779631192	missense variant	-	NC_000014.9:g.31106946T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2309Asp	rs757923063	missense variant	-	NC_000014.9:g.31106945T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly2310Arg	rs1034119651	missense variant	-	NC_000014.9:g.31106944C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2315Leu	rs779085058	missense variant	-	NC_000014.9:g.31106928G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2321Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31106909C>A	NCI-TCGA
HECTD1	Q9ULT8	p.Asp2322Val	rs371025781	missense variant	-	NC_000014.9:g.31106907T>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2326Lys	rs754822380	missense variant	-	NC_000014.9:g.31106896C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe2327Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31106892A>T	NCI-TCGA
HECTD1	Q9ULT8	p.Pro2336Ser	rs1001312621	missense variant	-	NC_000014.9:g.31106866G>A	TOPMed
HECTD1	Q9ULT8	p.Pro2336Leu	rs368701440	missense variant	-	NC_000014.9:g.31106865G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2336Arg	rs368701440	missense variant	-	NC_000014.9:g.31106865G>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2337Leu	rs564815113	missense variant	-	NC_000014.9:g.31106862G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2344Phe	rs1256585263	missense variant	-	NC_000014.9:g.31106840C>G	gnomAD
HECTD1	Q9ULT8	p.Glu2347Lys	rs1307991089	missense variant	-	NC_000014.9:g.31106833C>T	gnomAD
HECTD1	Q9ULT8	p.Val2352Ala	rs1205523477	missense variant	-	NC_000014.9:g.31106817A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2354Ser	rs764851230	missense variant	-	NC_000014.9:g.31106812G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2356Thr	rs777346880	missense variant	-	NC_000014.9:g.31106805C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2356Lys	COSM1135559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31106805C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg2356Gly	rs761338082	missense variant	-	NC_000014.9:g.31106806T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala2357Thr	rs1423344616	missense variant	-	NC_000014.9:g.31106803C>T	gnomAD
HECTD1	Q9ULT8	p.Glu2362Gln	rs1174468025	missense variant	-	NC_000014.9:g.31106788C>G	gnomAD
HECTD1	Q9ULT8	p.Ile2363Val	rs1480822725	missense variant	-	NC_000014.9:g.31106785T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2365Val	rs769273496	missense variant	-	NC_000014.9:g.31106778T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2368Val	rs760995887	missense variant	-	NC_000014.9:g.31106770T>C	ExAC
HECTD1	Q9ULT8	p.Lys2369Glu	rs1234460251	missense variant	-	NC_000014.9:g.31106767T>C	gnomAD
HECTD1	Q9ULT8	p.Lys2369Arg	rs772289440	missense variant	-	NC_000014.9:g.31106766T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2371Leu	rs771005504	missense variant	-	NC_000014.9:g.31106760C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2371Cys	rs374624832	missense variant	-	NC_000014.9:g.31106761G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2371His	rs771005504	missense variant	-	NC_000014.9:g.31106760C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2374Ser	rs1319304506	missense variant	-	NC_000014.9:g.31106751A>G	gnomAD
HECTD1	Q9ULT8	p.Asn2376Asp	rs749354360	missense variant	-	NC_000014.9:g.31106746T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2376Ser	rs781153492	missense variant	-	NC_000014.9:g.31106745T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys2377Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31106742T>A	NCI-TCGA
HECTD1	Q9ULT8	p.Gly2378Val	rs1052705745	missense variant	-	NC_000014.9:g.31106739C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly2378Asp	rs1052705745	missense variant	-	NC_000014.9:g.31106739C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2379Phe	rs779921443	missense variant	-	NC_000014.9:g.31106737G>A	ExAC
HECTD1	Q9ULT8	p.Ser2380Cys	rs758069777	missense variant	-	NC_000014.9:g.31106733G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2381Asp	rs1357744983	missense variant	-	NC_000014.9:g.31106729T>A	gnomAD
HECTD1	Q9ULT8	p.Glu2383Lys	COSM3793651	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31106725C>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Val2392Glu	rs1465069503	missense variant	-	NC_000014.9:g.31106697A>T	TOPMed
HECTD1	Q9ULT8	p.Asn2395Ser	rs750093484	missense variant	-	NC_000014.9:g.31106688T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2396Ser	rs764975645	missense variant	-	NC_000014.9:g.31106686G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2396Thr	rs764975645	missense variant	-	NC_000014.9:g.31106686G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2396Ala	rs764975645	missense variant	-	NC_000014.9:g.31106686G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2396Leu	rs200409299	missense variant	-	NC_000014.9:g.31106685G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2396Gln	rs200409299	missense variant	-	NC_000014.9:g.31106685G>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly2398Val	rs1471601477	missense variant	-	NC_000014.9:g.31106679C>A	gnomAD
HECTD1	Q9ULT8	p.Ser2399Cys	rs1341486859	missense variant	-	NC_000014.9:g.31106676G>C	gnomAD
HECTD1	Q9ULT8	p.Leu2403Phe	COSM955253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31106665G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ser2404Gly	rs373624502	missense variant	-	NC_000014.9:g.31106662T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2405Val	rs1472359837	missense variant	-	NC_000014.9:g.31106659T>C	gnomAD
HECTD1	Q9ULT8	p.Ser2417Phe	rs1300782583	missense variant	-	NC_000014.9:g.31105645G>A	gnomAD
HECTD1	Q9ULT8	p.Ser2418Ter	COSM416719	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.31105642G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Arg2419Lys	rs537769002	missense variant	-	NC_000014.9:g.31105639C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Phe2423Leu	rs77698356	missense variant	-	NC_000014.9:g.31105626A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val2426Leu	rs1304908510	missense variant	-	NC_000014.9:g.31105619C>A	gnomAD
HECTD1	Q9ULT8	p.Asp2427Asn	rs377639423	missense variant	-	NC_000014.9:g.31105616C>T	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2428Phe	rs1389355034	missense variant	-	NC_000014.9:g.31105613G>A	TOPMed
HECTD1	Q9ULT8	p.Ser2431Cys	COSM1300560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31105604T>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ser2431Gly	rs1305951853	missense variant	-	NC_000014.9:g.31105604T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2437Val	rs1190280951	missense variant	-	NC_000014.9:g.31105473T>C	TOPMed
HECTD1	Q9ULT8	p.Met2439Val	rs752137954	missense variant	-	NC_000014.9:g.31105467T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp2440Glu	rs756801071	missense variant	-	NC_000014.9:g.31105462A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2446Met	rs1477670491	missense variant	-	NC_000014.9:g.31105446C>T	TOPMed
HECTD1	Q9ULT8	p.Asp2447Tyr	rs555304505	missense variant	-	NC_000014.9:g.31105443C>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2447Asn	rs555304505	missense variant	-	NC_000014.9:g.31105443C>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2449Ile	rs377428994	missense variant	-	NC_000014.9:g.31105435C>T	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys2453Tyr	rs763236550	missense variant	-	NC_000014.9:g.31105424C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.His2455Tyr	rs1021004563	missense variant	-	NC_000014.9:g.31105419G>A	gnomAD
HECTD1	Q9ULT8	p.Thr2456Met	rs750708787	missense variant	-	NC_000014.9:g.31105415G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2458Leu	rs1198988436	missense variant	-	NC_000014.9:g.31105410T>G	gnomAD
HECTD1	Q9ULT8	p.Gln2459Arg	rs1462822489	missense variant	-	NC_000014.9:g.31105406T>C	gnomAD
HECTD1	Q9ULT8	p.Gln2459Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31105407G>T	NCI-TCGA
HECTD1	Q9ULT8	p.Asp2467Gly	rs761974972	missense variant	-	NC_000014.9:g.31103066T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys2471Asn	rs1361285097	missense variant	-	NC_000014.9:g.31103053T>G	gnomAD
HECTD1	Q9ULT8	p.Pro2474Ala	COSM3793650	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31103046G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Pro2474Leu	rs111683057	missense variant	-	NC_000014.9:g.31103045G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2475Val	rs1346408985	missense variant	-	NC_000014.9:g.31103043T>C	TOPMed
HECTD1	Q9ULT8	p.Glu2476Ala	rs764095323	missense variant	-	NC_000014.9:g.31103039T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.His2483Arg	rs369375532	missense variant	-	NC_000014.9:g.31103018T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln2487His	rs374962546	missense variant	-	NC_000014.9:g.31103005T>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2488Val	rs1305091476	missense variant	-	NC_000014.9:g.31103004T>C	TOPMed
HECTD1	Q9ULT8	p.Ile2489Met	rs772909298	missense variant	-	NC_000014.9:g.31102999A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2489Val	rs762893405	missense variant	-	NC_000014.9:g.31103001T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2490Ile	COSM955252	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31102998G>T	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ala2499Pro	rs769580685	missense variant	-	NC_000014.9:g.31102971C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala2500Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31102968C>T	NCI-TCGA
HECTD1	Q9ULT8	p.Ile2503Val	rs1451047557	missense variant	-	NC_000014.9:g.31102959T>C	gnomAD
HECTD1	Q9ULT8	p.Ile2504Thr	rs1266591510	missense variant	-	NC_000014.9:g.31102955A>G	gnomAD
HECTD1	Q9ULT8	p.Asn2505Lys	COSM257097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31102951A>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Tyr2506His	COSM5031925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31102950A>G	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Thr2507Ala	rs780826179	missense variant	-	NC_000014.9:g.31102947T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2508Asp	rs368406709	missense variant	-	NC_000014.9:g.31102942T>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2515His	rs964793346	missense variant	-	NC_000014.9:g.31102922C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2517Gly	rs1290338946	missense variant	-	NC_000014.9:g.31102917T>C	TOPMed
HECTD1	Q9ULT8	p.Pro2518Ser	rs776204796	missense variant	-	NC_000014.9:g.31101323G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly2519Val	rs1195967938	missense variant	-	NC_000014.9:g.31101319C>A	gnomAD
HECTD1	Q9ULT8	p.Val2524Leu	rs1478104798	missense variant	-	NC_000014.9:g.31101305C>A	gnomAD
HECTD1	Q9ULT8	p.Arg2525Ser	rs999322208	missense variant	-	NC_000014.9:g.31101300C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2527Phe	rs775013458	missense variant	-	NC_000014.9:g.31101294T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly2551Ala	rs1448842454	missense variant	-	NC_000014.9:g.31101223C>G	TOPMed
HECTD1	Q9ULT8	p.Leu2553Val	COSM4050459	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31101218G>C	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Ala2554Val	rs756376986	missense variant	-	NC_000014.9:g.31101214G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala2554Gly	rs756376986	missense variant	-	NC_000014.9:g.31101214G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2555Asp	rs979136541	missense variant	-	NC_000014.9:g.31101212T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2556Val	rs1176514454	missense variant	-	NC_000014.9:g.31101209G>C	gnomAD
HECTD1	Q9ULT8	p.Arg2564His	rs1260770160	missense variant	-	NC_000014.9:g.31101184C>T	gnomAD
HECTD1	Q9ULT8	p.Arg2564Cys	rs767715938	missense variant	-	NC_000014.9:g.31101185G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2566Ile	rs1285500280	missense variant	-	NC_000014.9:g.31101067C>T	gnomAD
HECTD1	Q9ULT8	p.Asp2567Asn	rs748381893	missense variant	-	NC_000014.9:g.31101064C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr2569Ile	rs1281428932	missense variant	-	NC_000014.9:g.31101057G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr2569Ala	rs781556696	missense variant	-	NC_000014.9:g.31101058T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala2571Val	rs755070818	missense variant	-	NC_000014.9:g.31101051G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser2572Asn	rs1364592881	missense variant	-	NC_000014.9:g.31101048C>T	gnomAD
HECTD1	Q9ULT8	p.Ser2572Gly	rs751636123	missense variant	-	NC_000014.9:g.31101049T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His2581Arg	rs1274784536	missense variant	-	NC_000014.9:g.31101021T>C	TOPMed
HECTD1	Q9ULT8	p.Glu2587Asp	rs753727227	missense variant	-	NC_000014.9:g.31101002T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2591Gln	rs752414874	missense variant	-	NC_000014.9:g.31100992C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2591Lys	rs752414874	missense variant	-	NC_000014.9:g.31100992C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2591Val	rs1432657359	missense variant	-	NC_000014.9:g.31100991T>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2594Leu	rs767188827	missense variant	-	NC_000014.9:g.31100983T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2596Ala	rs993454264	missense variant	-	NC_000014.9:g.31100976T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2597Cys	COSM6140302	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.31100974G>A	NCI-TCGA Cosmic
HECTD1	Q9ULT8	p.Met2603Ile	rs1243235052	missense variant	-	NC_000014.9:g.31100954C>T	gnomAD
HECTD1	Q9ULT8	p.Met2603Val	rs888537319	missense variant	-	NC_000014.9:g.31100956T>C	gnomAD
HECTD1	Q9ULT8	p.Gly2606Ser	rs759019571	missense variant	-	NC_000014.9:g.31100947C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2610Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.31100934T>A	NCI-TCGA
HECTD1	Q9ULT8	p.Ala2Thr	rs1357987642	missense variant	-	NC_000014.9:g.31205933C>T	gnomAD
HECTD1	Q9ULT8	p.Asp3His	rs968038537	missense variant	-	NC_000014.9:g.31205930C>G	TOPMed
HECTD1	Q9ULT8	p.Val4Met	rs755264541	missense variant	-	NC_000014.9:g.31205927C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu9Phe	rs751742308	missense variant	-	NC_000014.9:g.31205910C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln14His	rs764174252	missense variant	-	NC_000014.9:g.31205895C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly16Glu	rs760672938	missense variant	-	NC_000014.9:g.31205890C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met23Ile	rs891402149	missense variant	-	NC_000014.9:g.31205868C>T	TOPMed
HECTD1	Q9ULT8	p.Gln24Glu	rs775489494	missense variant	-	NC_000014.9:g.31205867G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala27Ser	rs759276303	missense variant	-	NC_000014.9:g.31205858C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala27Val	rs774004940	missense variant	-	NC_000014.9:g.31205857G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met37Val	rs371543287	missense variant	-	NC_000014.9:g.31205828T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser38Cys	rs770345112	missense variant	-	NC_000014.9:g.31205824G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg43Ser	rs1331704540	missense variant	-	NC_000014.9:g.31205810G>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe45Cys	rs748653003	missense variant	-	NC_000014.9:g.31205803A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys48Phe	rs1298909949	missense variant	-	NC_000014.9:g.31178252C>A	gnomAD
HECTD1	Q9ULT8	p.Arg51His	rs769042936	missense variant	-	NC_000014.9:g.31178243C>T	ExAC
HECTD1	Q9ULT8	p.Thr52Ala	rs1357433153	missense variant	-	NC_000014.9:g.31178241T>C	gnomAD
HECTD1	Q9ULT8	p.Phe53Tyr	rs780265122	missense variant	-	NC_000014.9:g.31178237A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu54Ser	rs1436485905	missense variant	-	NC_000014.9:g.31178234A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro55Ser	rs1260600161	missense variant	-	NC_000014.9:g.31178232G>A	TOPMed
HECTD1	Q9ULT8	p.Glu64Lys	rs746008215	missense variant	-	NC_000014.9:g.31178205C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala66Gly	rs779146625	missense variant	-	NC_000014.9:g.31178198G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn69Ser	rs757361288	missense variant	-	NC_000014.9:g.31178189T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn69Ile	rs757361288	missense variant	-	NC_000014.9:g.31178189T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg76His	rs754849406	missense variant	-	NC_000014.9:g.31178168C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg76Cys	rs781317618	missense variant	-	NC_000014.9:g.31178169G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile78Met	rs910987727	missense variant	-	NC_000014.9:g.31178161T>C	TOPMed
HECTD1	Q9ULT8	p.Thr79Lys	rs1285807223	missense variant	-	NC_000014.9:g.31178159G>T	gnomAD
HECTD1	Q9ULT8	p.Thr79Ala	rs751429096	missense variant	-	NC_000014.9:g.31178160T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala86Val	rs1307980432	missense variant	-	NC_000014.9:g.31178138G>A	gnomAD
HECTD1	Q9ULT8	p.Arg90Gln	rs1377138557	missense variant	-	NC_000014.9:g.31178126C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg90Ter	rs1171266727	stop gained	-	NC_000014.9:g.31178127G>A	TOPMed
HECTD1	Q9ULT8	p.Gly94Val	rs1286003091	missense variant	-	NC_000014.9:g.31178114C>A	gnomAD
HECTD1	Q9ULT8	p.Val95Ile	rs1376024973	missense variant	-	NC_000014.9:g.31178112C>T	gnomAD
HECTD1	Q9ULT8	p.Ile99Met	rs1417647846	missense variant	-	NC_000014.9:g.31178098T>C	gnomAD
HECTD1	Q9ULT8	p.Ile99Val	rs1297454875	missense variant	-	NC_000014.9:g.31178100T>C	gnomAD
HECTD1	Q9ULT8	p.Arg105Gly	rs377423641	missense variant	-	NC_000014.9:g.31178082G>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg105His	rs1175145295	missense variant	-	NC_000014.9:g.31178081C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg105Cys	rs377423641	missense variant	-	NC_000014.9:g.31178082G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu106Phe	rs1452174541	missense variant	-	NC_000014.9:g.31178077C>A	gnomAD
HECTD1	Q9ULT8	p.Val107Ile	rs1450497479	missense variant	-	NC_000014.9:g.31178076C>T	TOPMed
HECTD1	Q9ULT8	p.Val108Leu	rs1159468315	missense variant	-	NC_000014.9:g.31178073C>G	gnomAD
HECTD1	Q9ULT8	p.Leu111Phe	rs1252839664	missense variant	-	NC_000014.9:g.31178064G>A	gnomAD
HECTD1	Q9ULT8	p.Asn113Lys	rs769259996	missense variant	-	NC_000014.9:g.31178056G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr115Ile	rs761079916	missense variant	-	NC_000014.9:g.31178051G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser116Arg	rs775924105	missense variant	-	NC_000014.9:g.31178047G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys125Asn	rs779236772	missense variant	-	NC_000014.9:g.31178020C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys131Ser	rs373938352	missense variant	-	NC_000014.9:g.31175123A>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Cys131Arg	rs373938352	missense variant	-	NC_000014.9:g.31175123A>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg133His	rs1365139543	missense variant	-	NC_000014.9:g.31175116C>T	gnomAD
HECTD1	Q9ULT8	p.Arg133Cys	rs1386033074	missense variant	-	NC_000014.9:g.31175117G>A	gnomAD
HECTD1	Q9ULT8	p.Ala141Val	rs1366925392	missense variant	-	NC_000014.9:g.31175092G>A	TOPMed
HECTD1	Q9ULT8	p.Ala141Ser	rs746991269	missense variant	-	NC_000014.9:g.31175093C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly142Asp	rs779819825	missense variant	-	NC_000014.9:g.31175089C>T	ExAC,TOPMed
HECTD1	Q9ULT8	p.Cys146Ser	rs1316166729	missense variant	-	NC_000014.9:g.31175077C>G	gnomAD
HECTD1	Q9ULT8	p.Thr149Ile	rs557388730	missense variant	-	NC_000014.9:g.31175068G>A	1000Genomes
HECTD1	Q9ULT8	p.Phe150Leu	rs753427362	missense variant	-	NC_000014.9:g.31175064G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Phe150Leu	rs947748658	missense variant	-	NC_000014.9:g.31175066A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg152Cys	rs920316638	missense variant	-	NC_000014.9:g.31175060G>A	gnomAD
HECTD1	Q9ULT8	p.Arg152His	rs199851699	missense variant	-	NC_000014.9:g.31175059C>T	gnomAD
HECTD1	Q9ULT8	p.His156Arg	rs755537481	missense variant	-	NC_000014.9:g.31175047T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu157Val	rs1282132072	missense variant	-	NC_000014.9:g.31175045G>C	TOPMed
HECTD1	Q9ULT8	p.Leu157Arg	rs752220141	missense variant	-	NC_000014.9:g.31175044A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp161Asn	rs760107123	missense variant	-	NC_000014.9:g.31175033C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.His164Gln	rs766784775	missense variant	-	NC_000014.9:g.31175022G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala166Thr	rs1394080835	missense variant	-	NC_000014.9:g.31175018C>T	gnomAD
HECTD1	Q9ULT8	p.Met167Val	rs1305324312	missense variant	-	NC_000014.9:g.31175015T>C	gnomAD
HECTD1	Q9ULT8	p.Ala168Val	rs1216593230	missense variant	-	NC_000014.9:g.31175011G>A	TOPMed
HECTD1	Q9ULT8	p.Val169Gly	rs201192053	missense variant	-	NC_000014.9:g.31175008A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val170Gly	rs773261934	missense variant	-	NC_000014.9:g.31175005A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val170Ala	rs773261934	missense variant	-	NC_000014.9:g.31175005A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Cys174Phe	rs1168088104	missense variant	-	NC_000014.9:g.31174993C>A	gnomAD
HECTD1	Q9ULT8	p.Ile186Val	rs1464972687	missense variant	-	NC_000014.9:g.31174958T>C	gnomAD
HECTD1	Q9ULT8	p.Cys187Arg	rs1479249132	missense variant	-	NC_000014.9:g.31174955A>G	TOPMed
HECTD1	Q9ULT8	p.Val188Leu	rs748220289	missense variant	-	NC_000014.9:g.31174952C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser190Ala	rs776754195	missense variant	-	NC_000014.9:g.31174946A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser193Gly	rs1439432421	missense variant	-	NC_000014.9:g.31174937T>C	gnomAD
HECTD1	Q9ULT8	p.His197Tyr	rs748262676	missense variant	-	NC_000014.9:g.31174925G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln201Arg	rs1419812863	missense variant	-	NC_000014.9:g.31174912T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp204Gly	rs1206579018	missense variant	-	NC_000014.9:g.31173799T>C	gnomAD
HECTD1	Q9ULT8	p.Ala206Gly	rs750772670	missense variant	-	NC_000014.9:g.31173793G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg208Ter	rs1355980674	stop gained	-	NC_000014.9:g.31173788G>A	gnomAD
HECTD1	Q9ULT8	p.Phe210Leu	rs1230953179	missense variant	-	NC_000014.9:g.31173782A>G	gnomAD
HECTD1	Q9ULT8	p.Phe210Ser	rs1356753285	missense variant	-	NC_000014.9:g.31173781A>G	gnomAD
HECTD1	Q9ULT8	p.Ala211Thr	rs765429669	missense variant	-	NC_000014.9:g.31173779C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala211Pro	rs765429669	missense variant	-	NC_000014.9:g.31173779C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala211Val	rs762086563	missense variant	-	NC_000014.9:g.31173778G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu213Val	rs1182294103	missense variant	-	NC_000014.9:g.31173773G>C	TOPMed
HECTD1	Q9ULT8	p.Ala214Ser	rs768662476	missense variant	-	NC_000014.9:g.31173770C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala214Thr	rs768662476	missense variant	-	NC_000014.9:g.31173770C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe217Leu	rs1162349492	missense variant	-	NC_000014.9:g.31173761A>G	TOPMed
HECTD1	Q9ULT8	p.Arg219Ser	rs1161621384	missense variant	-	NC_000014.9:g.31173755G>T	gnomAD
HECTD1	Q9ULT8	p.Arg219Cys	rs1161621384	missense variant	-	NC_000014.9:g.31173755G>A	gnomAD
HECTD1	Q9ULT8	p.Arg220Pro	rs770821753	missense variant	-	NC_000014.9:g.31173751C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg220His	rs770821753	missense variant	-	NC_000014.9:g.31173751C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg220Cys	rs1463082528	missense variant	-	NC_000014.9:g.31173752G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val222Ile	rs749085670	missense variant	-	NC_000014.9:g.31173746C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.His230Arg	rs769399672	missense variant	-	NC_000014.9:g.31173721T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu234Gly	rs780863986	missense variant	-	NC_000014.9:g.31173709T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu234Ala	rs780863986	missense variant	-	NC_000014.9:g.31173709T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu235Gln	rs368167266	missense variant	-	NC_000014.9:g.31173707C>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu236Met	rs1211365515	missense variant	-	NC_000014.9:g.31173704G>T	gnomAD
HECTD1	Q9ULT8	p.Ser238Pro	rs1244331041	missense variant	-	NC_000014.9:g.31173698A>G	TOPMed
HECTD1	Q9ULT8	p.Ser238Phe	rs780749251	missense variant	-	NC_000014.9:g.31173697G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg239Pro	rs758956415	missense variant	-	NC_000014.9:g.31173694C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met240Thr	rs750814103	missense variant	-	NC_000014.9:g.31173691A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala241Gly	rs1272379275	missense variant	-	NC_000014.9:g.31173688G>C	gnomAD
HECTD1	Q9ULT8	p.Ala242Thr	rs765566192	missense variant	-	NC_000014.9:g.31173686C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala243Gly	rs761950733	missense variant	-	NC_000014.9:g.31173682G>C	ExAC,TOPMed
HECTD1	Q9ULT8	p.Gly244Ala	rs769560642	missense variant	-	NC_000014.9:g.31173679C>G	TOPMed
HECTD1	Q9ULT8	p.Gly244Val	rs769560642	missense variant	-	NC_000014.9:g.31173679C>A	TOPMed
HECTD1	Q9ULT8	p.Gly245Ser	rs530361249	missense variant	-	NC_000014.9:g.31173677C>T	1000Genomes
HECTD1	Q9ULT8	p.Thr246Ala	rs1274484679	missense variant	-	NC_000014.9:g.31173674T>C	TOPMed
HECTD1	Q9ULT8	p.Val247Phe	rs1394856116	missense variant	-	NC_000014.9:g.31173671C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val247Ile	rs1394856116	missense variant	-	NC_000014.9:g.31173671C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser248Thr	rs754039409	missense variant	-	NC_000014.9:g.31173668A>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly249Arg	rs764188042	missense variant	-	NC_000014.9:g.31173665C>T	ExAC
HECTD1	Q9ULT8	p.Ala253Val	rs559636254	missense variant	-	NC_000014.9:g.31173652G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala253Thr	rs1330727288	missense variant	-	NC_000014.9:g.31173653C>T	gnomAD
HECTD1	Q9ULT8	p.Arg258His	rs1475623242	missense variant	-	NC_000014.9:g.31173637C>T	gnomAD
HECTD1	Q9ULT8	p.Arg258Ser	rs1169523562	missense variant	-	NC_000014.9:g.31173638G>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg258Pro	rs1475623242	missense variant	-	NC_000014.9:g.31173637C>G	gnomAD
HECTD1	Q9ULT8	p.Arg258Cys	rs1169523562	missense variant	-	NC_000014.9:g.31173638G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser259Gly	rs772887598	missense variant	-	NC_000014.9:g.31173635T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr260Ala	rs1469506800	missense variant	-	NC_000014.9:g.31173632T>C	gnomAD
HECTD1	Q9ULT8	p.Pro264Ser	rs1197480746	missense variant	-	NC_000014.9:g.31173620G>A	gnomAD
HECTD1	Q9ULT8	p.Thr266Ile	rs747779930	missense variant	-	NC_000014.9:g.31173613G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp269Glu	rs780953774	missense variant	-	NC_000014.9:g.31173603A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser270Cys	rs746570962	missense variant	-	NC_000014.9:g.31173601G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser270Ala	rs768394767	missense variant	-	NC_000014.9:g.31173602A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys271Arg	rs1236823878	missense variant	-	NC_000014.9:g.31173598T>C	gnomAD
HECTD1	Q9ULT8	p.Gln275His	rs758830368	missense variant	-	NC_000014.9:g.31173585C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile279Val	rs376479630	missense variant	-	NC_000014.9:g.31173575T>C	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val280Leu	rs757599875	missense variant	-	NC_000014.9:g.31173572C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu283Phe	rs776378066	missense variant	-	NC_000014.9:g.31173563G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr285Ile	rs1374666287	missense variant	-	NC_000014.9:g.31173556G>A	gnomAD
HECTD1	Q9ULT8	p.Gly289Cys	rs1233459661	missense variant	-	NC_000014.9:g.31173545C>A	gnomAD
HECTD1	Q9ULT8	p.Pro291Gln	rs767519029	missense variant	-	NC_000014.9:g.31173538G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro291Leu	rs767519029	missense variant	-	NC_000014.9:g.31173538G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr294Ala	rs762813133	missense variant	-	NC_000014.9:g.31173530T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His295Arg	rs1205891895	missense variant	-	NC_000014.9:g.31173526T>C	gnomAD
HECTD1	Q9ULT8	p.Leu298Gln	rs1262908036	missense variant	-	NC_000014.9:g.31173419A>T	gnomAD
HECTD1	Q9ULT8	p.Ser300Leu	rs756333643	missense variant	-	NC_000014.9:g.31173413G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu301Asp	rs767518218	missense variant	-	NC_000014.9:g.31173409C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp304Gly	rs565368987	missense variant	-	NC_000014.9:g.31173401T>C	1000Genomes
HECTD1	Q9ULT8	p.Asp304Glu	rs751564416	missense variant	-	NC_000014.9:g.31173400A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser308Gly	rs374471717	missense variant	-	NC_000014.9:g.31173390T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser308Thr	rs761832448	missense variant	-	NC_000014.9:g.31173389C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln311Glu	rs371330817	missense variant	-	NC_000014.9:g.31173381G>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp313Val	rs1346625398	missense variant	-	NC_000014.9:g.31173374T>A	gnomAD
HECTD1	Q9ULT8	p.Val317Ala	rs771590581	missense variant	-	NC_000014.9:g.31173362A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr320Ile	rs1167816610	missense variant	-	NC_000014.9:g.31173353G>A	gnomAD
HECTD1	Q9ULT8	p.Met321Val	rs1475810017	missense variant	-	NC_000014.9:g.31173351T>C	gnomAD
HECTD1	Q9ULT8	p.Val324Phe	rs1261589657	missense variant	-	NC_000014.9:g.31173342C>A	gnomAD
HECTD1	Q9ULT8	p.Asp325Glu	rs1185161806	missense variant	-	NC_000014.9:g.31173337G>T	gnomAD
HECTD1	Q9ULT8	p.Leu326Pro	rs1366306117	missense variant	-	NC_000014.9:g.31173335A>G	TOPMed
HECTD1	Q9ULT8	p.Leu330Val	rs1487019389	missense variant	-	NC_000014.9:g.31173324G>C	gnomAD
HECTD1	Q9ULT8	p.Leu331Ser	rs1213292000	missense variant	-	NC_000014.9:g.31173320A>G	gnomAD
HECTD1	Q9ULT8	p.Arg335Ter	rs1467241672	stop gained	-	NC_000014.9:g.31173309G>A	gnomAD
HECTD1	Q9ULT8	p.Ala337Thr	rs1234667441	missense variant	-	NC_000014.9:g.31173303C>T	TOPMed
HECTD1	Q9ULT8	p.Leu338Val	rs771534036	missense variant	-	NC_000014.9:g.31173300A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu338Phe	rs1325149532	missense variant	-	NC_000014.9:g.31173298C>G	TOPMed
HECTD1	Q9ULT8	p.Lys340Glu	rs749728442	missense variant	-	NC_000014.9:g.31173294T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser342Gly	rs201824279	missense variant	-	NC_000014.9:g.31173288T>C	gnomAD
HECTD1	Q9ULT8	p.Ser342Asn	rs367628894	missense variant	-	NC_000014.9:g.31173287C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser345Cys	rs1439693816	missense variant	-	NC_000014.9:g.31173278G>C	gnomAD
HECTD1	Q9ULT8	p.Gly347Ser	rs781518500	missense variant	-	NC_000014.9:g.31173273C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro350Leu	rs374975608	missense variant	-	NC_000014.9:g.31173263G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu352Phe	rs751721983	missense variant	-	NC_000014.9:g.31173258G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg353Trp	rs757269778	missense variant	-	NC_000014.9:g.31173255G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg353Gln	rs201071378	missense variant	-	NC_000014.9:g.31173254C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser358Pro	rs370615404	missense variant	-	NC_000014.9:g.31173240A>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu360Lys	rs752409885	missense variant	-	NC_000014.9:g.31173234C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg361Cys	rs759105343	missense variant	-	NC_000014.9:g.31173231G>A	ExAC
HECTD1	Q9ULT8	p.Arg361Leu	rs376624148	missense variant	-	NC_000014.9:g.31173230C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg361His	rs376624148	missense variant	-	NC_000014.9:g.31173230C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser362Leu	rs1194461631	missense variant	-	NC_000014.9:g.31173227G>A	gnomAD
HECTD1	Q9ULT8	p.His363Arg	rs914541012	missense variant	-	NC_000014.9:g.31173224T>C	TOPMed
HECTD1	Q9ULT8	p.His363Pro	rs914541012	missense variant	-	NC_000014.9:g.31173224T>G	TOPMed
HECTD1	Q9ULT8	p.Arg364Trp	rs374758443	missense variant	-	NC_000014.9:g.31173222G>A	ESP,gnomAD
HECTD1	Q9ULT8	p.Arg364Gln	rs770288826	missense variant	-	NC_000014.9:g.31173221C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln365His	rs1296006668	missense variant	-	NC_000014.9:g.31173217C>G	gnomAD
HECTD1	Q9ULT8	p.Gln365Arg	rs763474721	missense variant	-	NC_000014.9:g.31173218T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile367Val	rs1233168645	missense variant	-	NC_000014.9:g.31173213T>C	gnomAD
HECTD1	Q9ULT8	p.Arg371Ter	rs770257208	stop gained	-	NC_000014.9:g.31173201G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp374Asn	rs1389700712	missense variant	-	NC_000014.9:g.31173192C>T	TOPMed
HECTD1	Q9ULT8	p.Asp376Asn	rs1395135102	missense variant	-	NC_000014.9:g.31173186C>T	gnomAD
HECTD1	Q9ULT8	p.Ile379Thr	rs780200526	missense variant	-	NC_000014.9:g.31173176A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala381Val	rs1452909095	missense variant	-	NC_000014.9:g.31173170G>A	gnomAD
HECTD1	Q9ULT8	p.Ile382Leu	rs199790764	missense variant	-	NC_000014.9:g.31173168T>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile382Val	rs199790764	missense variant	-	NC_000014.9:g.31173168T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met392Thr	rs201192424	missense variant	-	NC_000014.9:g.31172104A>G	ExAC
HECTD1	Q9ULT8	p.Asp394Asn	rs1200713364	missense variant	-	NC_000014.9:g.31172099C>T	gnomAD
HECTD1	Q9ULT8	p.Gly396Asp	rs1349543289	missense variant	-	NC_000014.9:g.31172092C>T	gnomAD
HECTD1	Q9ULT8	p.Thr398Ser	rs1258531632	missense variant	-	NC_000014.9:g.31172086G>C	gnomAD
HECTD1	Q9ULT8	p.Leu399Val	rs779071139	missense variant	-	NC_000014.9:g.31172084G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu400Val	rs1455736393	missense variant	-	NC_000014.9:g.31172081A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala403Val	rs1413460199	missense variant	-	NC_000014.9:g.31172071G>A	gnomAD
HECTD1	Q9ULT8	p.Glu417Gln	rs748157493	missense variant	-	NC_000014.9:g.31171944C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly419Ser	rs1166083212	missense variant	-	NC_000014.9:g.31171938C>T	TOPMed
HECTD1	Q9ULT8	p.Ala420Thr	rs1463033913	missense variant	-	NC_000014.9:g.31171935C>T	gnomAD
HECTD1	Q9ULT8	p.Asp421Gly	rs754895012	missense variant	-	NC_000014.9:g.31171931T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp421Ala	rs754895012	missense variant	-	NC_000014.9:g.31171931T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val422Ile	rs199633695	missense variant	-	NC_000014.9:g.31171929C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg424Lys	rs1194945677	missense variant	-	NC_000014.9:g.31171922C>T	gnomAD
HECTD1	Q9ULT8	p.Arg427Met	rs1449669554	missense variant	-	NC_000014.9:g.31171913C>A	gnomAD
HECTD1	Q9ULT8	p.Ser430Thr	rs758111235	missense variant	-	NC_000014.9:g.31171905A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr433His	rs1297213314	missense variant	-	NC_000014.9:g.31171896A>G	TOPMed
HECTD1	Q9ULT8	p.Pro440Leu	rs1337909770	missense variant	-	NC_000014.9:g.31171874G>A	gnomAD
HECTD1	Q9ULT8	p.Gln441Arg	rs201335906	missense variant	-	NC_000014.9:g.31171871T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val442Ile	rs753344101	missense variant	-	NC_000014.9:g.31171869C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg448Gln	rs756879472	missense variant	-	NC_000014.9:g.31169458C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg448Leu	rs756879472	missense variant	-	NC_000014.9:g.31169458C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn452Ile	rs777335128	missense variant	-	NC_000014.9:g.31169446T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp454Tyr	rs1259878811	missense variant	-	NC_000014.9:g.31169441C>A	TOPMed
HECTD1	Q9ULT8	p.Thr462Ala	rs756639602	missense variant	-	NC_000014.9:g.31169417T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg468Leu	rs367724968	missense variant	-	NC_000014.9:g.31169398C>A	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg468Gln	rs367724968	missense variant	-	NC_000014.9:g.31169398C>T	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly471Asp	rs1157504433	missense variant	-	NC_000014.9:g.31169389C>T	gnomAD
HECTD1	Q9ULT8	p.Val476Ile	rs760010664	missense variant	-	NC_000014.9:g.31169375C>T	ExAC
HECTD1	Q9ULT8	p.Ile478Val	rs1468103997	missense variant	-	NC_000014.9:g.31169369T>C	gnomAD
HECTD1	Q9ULT8	p.Ile478Ser	rs939134459	missense variant	-	NC_000014.9:g.31169368A>C	TOPMed
HECTD1	Q9ULT8	p.Gln480His	rs1191797871	missense variant	-	NC_000014.9:g.31169361C>A	TOPMed
HECTD1	Q9ULT8	p.Gly483Asp	rs745938416	missense variant	-	NC_000014.9:g.31168472C>T	TOPMed
HECTD1	Q9ULT8	p.Trp485Ter	rs755655947	stop gained	-	NC_000014.9:g.31168465C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met486Val	rs1232705847	missense variant	-	NC_000014.9:g.31168464T>C	gnomAD
HECTD1	Q9ULT8	p.Cys487Ter	rs1334110168	stop gained	-	NC_000014.9:g.31168459A>T	gnomAD
HECTD1	Q9ULT8	p.Pro488Ser	rs149998757	missense variant	-	NC_000014.9:g.31168458G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro488Ala	rs149998757	missense variant	-	NC_000014.9:g.31168458G>C	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val489Leu	rs781770147	missense variant	-	NC_000014.9:g.31168455C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly492Arg	rs1379608741	missense variant	-	NC_000014.9:g.31168446C>G	gnomAD
HECTD1	Q9ULT8	p.Asp494Gly	rs1269299720	missense variant	-	NC_000014.9:g.31168439T>C	gnomAD
HECTD1	Q9ULT8	p.Lys495Arg	rs755484347	missense variant	-	NC_000014.9:g.31168436T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys496Glu	rs1320666930	missense variant	-	NC_000014.9:g.31168434T>C	gnomAD
HECTD1	Q9ULT8	p.Lys498Glu	rs566713177	missense variant	-	NC_000014.9:g.31168428T>C	1000Genomes
HECTD1	Q9ULT8	p.Asp499Glu	rs779189886	missense variant	-	NC_000014.9:g.31168423A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr500Ala	rs1392922597	missense variant	-	NC_000014.9:g.31168422T>C	gnomAD
HECTD1	Q9ULT8	p.Asp503Gly	rs551396462	missense variant	-	NC_000014.9:g.31168412T>C	1000Genomes
HECTD1	Q9ULT8	p.Glu505Lys	rs1419218532	missense variant	-	NC_000014.9:g.31168407C>T	gnomAD
HECTD1	Q9ULT8	p.Glu509Asp	rs200417980	missense variant	-	NC_000014.9:g.31168393C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys511Arg	rs750633915	missense variant	-	NC_000014.9:g.31168388T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp513Asn	rs761908738	missense variant	-	NC_000014.9:g.31168383C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp513His	rs761908738	missense variant	-	NC_000014.9:g.31168383C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro514Thr	rs767451398	missense variant	-	NC_000014.9:g.31168380G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro514Gln	rs759468065	missense variant	-	NC_000014.9:g.31168379G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro514Leu	rs759468065	missense variant	-	NC_000014.9:g.31168379G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met516Val	rs770738758	missense variant	-	NC_000014.9:g.31168374T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro518Leu	rs748933537	missense variant	-	NC_000014.9:g.31168367G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro518Ser	rs1366953174	missense variant	-	NC_000014.9:g.31168368G>A	gnomAD
HECTD1	Q9ULT8	p.Ile519Met	rs917026647	missense variant	-	NC_000014.9:g.31168363T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile519Thr	rs769522373	missense variant	-	NC_000014.9:g.31168364A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile519Val	rs772948905	missense variant	-	NC_000014.9:g.31168365T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr520Ter	rs1458850118	stop gained	-	NC_000014.9:g.31168360G>C	gnomAD
HECTD1	Q9ULT8	p.Leu525Ser	rs1431944957	missense variant	-	NC_000014.9:g.31168346A>G	gnomAD
HECTD1	Q9ULT8	p.Gln534Glu	rs35311292	missense variant	-	NC_000014.9:g.31168320G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln534Ter	rs35311292	stop gained	-	NC_000014.9:g.31168320G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met536Leu	rs925612082	missense variant	-	NC_000014.9:g.31168314T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met536Val	rs925612082	missense variant	-	NC_000014.9:g.31168314T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met536Thr	rs1277790722	missense variant	-	NC_000014.9:g.31168313A>G	gnomAD
HECTD1	Q9ULT8	p.Met536Leu	rs925612082	missense variant	-	NC_000014.9:g.31168314T>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro538Ser	rs1452731854	missense variant	-	NC_000014.9:g.31168308G>A	gnomAD
HECTD1	Q9ULT8	p.Ile540Val	rs376339897	missense variant	-	NC_000014.9:g.31168302T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala543Thr	rs1249746894	missense variant	-	NC_000014.9:g.31157299C>T	gnomAD
HECTD1	Q9ULT8	p.Leu545Val	rs1179904472	missense variant	-	NC_000014.9:g.31157293G>C	gnomAD
HECTD1	Q9ULT8	p.Leu547Val	rs769574276	missense variant	-	NC_000014.9:g.31157287G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met551Val	rs776338089	missense variant	-	NC_000014.9:g.31157275T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile552Val	rs949217788	missense variant	-	NC_000014.9:g.31157272T>C	gnomAD
HECTD1	Q9ULT8	p.His553Asn	rs1257329103	missense variant	-	NC_000014.9:g.31157269G>T	gnomAD
HECTD1	Q9ULT8	p.Ser556Pro	rs747508509	missense variant	-	NC_000014.9:g.31157260A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala558Thr	rs1287079962	missense variant	-	NC_000014.9:g.31157254C>T	gnomAD
HECTD1	Q9ULT8	p.Leu559Pro	rs1481852841	missense variant	-	NC_000014.9:g.31157250A>G	TOPMed
HECTD1	Q9ULT8	p.Val563Phe	rs1199216782	missense variant	-	NC_000014.9:g.31157239C>A	TOPMed
HECTD1	Q9ULT8	p.Cys564Tyr	rs780637888	missense variant	-	NC_000014.9:g.31157235C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser566Cys	rs1312677878	missense variant	-	NC_000014.9:g.31157229G>C	gnomAD
HECTD1	Q9ULT8	p.Asp567Val	rs1413279475	missense variant	-	NC_000014.9:g.31157226T>A	gnomAD
HECTD1	Q9ULT8	p.Val568Ile	rs758778839	missense variant	-	NC_000014.9:g.31157224C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val568Ala	rs932341095	missense variant	-	NC_000014.9:g.31157223A>G	TOPMed
HECTD1	Q9ULT8	p.Asn571Ser	rs779249784	missense variant	-	NC_000014.9:g.31157214T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro573Leu	rs757535234	missense variant	-	NC_000014.9:g.31157208G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr574Ala	rs754038853	missense variant	-	NC_000014.9:g.31157206T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu578Ala	rs756249045	missense variant	-	NC_000014.9:g.31157193T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu578Val	rs756249045	missense variant	-	NC_000014.9:g.31157193T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile579Thr	rs752671358	missense variant	-	NC_000014.9:g.31157190A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr580Pro	rs1169363628	missense variant	-	NC_000014.9:g.31157188T>G	TOPMed
HECTD1	Q9ULT8	p.Thr580Ile	rs766352815	missense variant	-	NC_000014.9:g.31157187G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr582Asn	rs1373396144	missense variant	-	NC_000014.9:g.31157181G>T	TOPMed
HECTD1	Q9ULT8	p.Val583Leu	rs1485282818	missense variant	-	NC_000014.9:g.31157179C>G	gnomAD
HECTD1	Q9ULT8	p.Asp585Glu	rs1463292873	missense variant	-	NC_000014.9:g.31157171A>T	TOPMed
HECTD1	Q9ULT8	p.Asp589Gly	rs777993834	missense variant	-	NC_000014.9:g.31157006T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp589Glu	rs926606289	missense variant	-	NC_000014.9:g.31157005A>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp590Glu	rs1289548302	missense variant	-	NC_000014.9:g.31157002A>T	TOPMed
HECTD1	Q9ULT8	p.Asp591His	rs756233177	missense variant	-	NC_000014.9:g.31157001C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu595Val	rs752825325	missense variant	-	NC_000014.9:g.31156989G>C	ExAC
HECTD1	Q9ULT8	p.Ile600Met	rs372796767	missense variant	-	NC_000014.9:g.31156972T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile600Val	rs1317627264	missense variant	-	NC_000014.9:g.31156974T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg601Thr	rs1322859701	missense variant	-	NC_000014.9:g.31156970C>G	gnomAD
HECTD1	Q9ULT8	p.Asp602Val	rs1392732875	missense variant	-	NC_000014.9:g.31156967T>A	gnomAD
HECTD1	Q9ULT8	p.Asp605His	rs765161560	missense variant	-	NC_000014.9:g.31156959C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly608Asp	rs1235606749	missense variant	-	NC_000014.9:g.31156949C>T	gnomAD
HECTD1	Q9ULT8	p.Ile610Thr	rs772294541	missense variant	-	NC_000014.9:g.31156943A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe611Leu	rs1316863554	missense variant	-	NC_000014.9:g.31156939A>C	TOPMed
HECTD1	Q9ULT8	p.Gln614His	rs753634884	missense variant	-	NC_000014.9:g.31156930C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser622Asn	rs1449614390	missense variant	-	NC_000014.9:g.31156907C>T	gnomAD
HECTD1	Q9ULT8	p.Lys623Thr	rs1251797151	missense variant	-	NC_000014.9:g.31156904T>G	gnomAD
HECTD1	Q9ULT8	p.Ser625Pro	rs200112692	missense variant	-	NC_000014.9:g.31156899A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr626Met	rs1340466931	missense variant	-	NC_000014.9:g.31156895G>A	gnomAD
HECTD1	Q9ULT8	p.Thr626Ala	rs571232531	missense variant	-	NC_000014.9:g.31156896T>C	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala628Ser	rs1277124747	missense variant	-	NC_000014.9:g.31156890C>A	gnomAD
HECTD1	Q9ULT8	p.Asp634Asn	rs1201359129	missense variant	-	NC_000014.9:g.31156872C>T	TOPMed
HECTD1	Q9ULT8	p.Asp634Gly	rs1229374794	missense variant	-	NC_000014.9:g.31156871T>C	gnomAD
HECTD1	Q9ULT8	p.Glu635Val	rs1347310850	missense variant	-	NC_000014.9:g.31156868T>A	gnomAD
HECTD1	Q9ULT8	p.Asn636Ser	rs1405642026	missense variant	-	NC_000014.9:g.31156865T>C	TOPMed
HECTD1	Q9ULT8	p.Glu637Gly	rs1400056791	missense variant	-	NC_000014.9:g.31156862T>C	TOPMed
HECTD1	Q9ULT8	p.Glu637Asp	rs760132871	missense variant	-	NC_000014.9:g.31156861T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu638Lys	rs1332763775	missense variant	-	NC_000014.9:g.31156860C>T	gnomAD
HECTD1	Q9ULT8	p.Ser640Ter	rs1368464808	stop gained	-	NC_000014.9:g.31156853G>T	gnomAD
HECTD1	Q9ULT8	p.Ser640Thr	rs1409045430	missense variant	-	NC_000014.9:g.31156854A>T	gnomAD
HECTD1	Q9ULT8	p.Pro642Leu	rs771379436	missense variant	-	NC_000014.9:g.31156847G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro642Arg	rs771379436	missense variant	-	NC_000014.9:g.31156847G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro642Gln	rs771379436	missense variant	-	NC_000014.9:g.31156847G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro642Thr	rs1429970630	missense variant	-	NC_000014.9:g.31156848G>T	gnomAD
HECTD1	Q9ULT8	p.Glu643Gln	rs1170327697	missense variant	-	NC_000014.9:g.31156845C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu643Lys	rs1170327697	missense variant	-	NC_000014.9:g.31156845C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu645Lys	rs1228843607	missense variant	-	NC_000014.9:g.31150221C>T	gnomAD
HECTD1	Q9ULT8	p.Asp646Gly	rs747094522	missense variant	-	NC_000014.9:g.31150217T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro648Ser	rs757326361	missense variant	-	NC_000014.9:g.31150212G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu650Gln	rs777667212	missense variant	-	NC_000014.9:g.31150206C>G	ExAC
HECTD1	Q9ULT8	p.Gln656His	rs11620816	missense variant	-	NC_000014.9:g.31150186T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln656His	rs11620816	missense variant	-	NC_000014.9:g.31150186T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro660Thr	rs1160534274	missense variant	-	NC_000014.9:g.31150176G>T	gnomAD
HECTD1	Q9ULT8	p.Pro660Ser	rs1160534274	missense variant	-	NC_000014.9:g.31150176G>A	gnomAD
HECTD1	Q9ULT8	p.Tyr661Cys	rs1412033172	missense variant	-	NC_000014.9:g.31150172T>C	gnomAD
HECTD1	Q9ULT8	p.His662Arg	rs751136215	missense variant	-	NC_000014.9:g.31150169T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile668Val	rs765861228	missense variant	-	NC_000014.9:g.31150152T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg670Gly	rs1318773514	missense variant	-	NC_000014.9:g.31150146T>C	gnomAD
HECTD1	Q9ULT8	p.Arg670Ser	rs1247595276	missense variant	-	NC_000014.9:g.31150144C>G	gnomAD
HECTD1	Q9ULT8	p.Ala682Thr	rs763497573	missense variant	-	NC_000014.9:g.31150110C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala683Val	rs538441061	missense variant	-	NC_000014.9:g.31150106G>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Phe694Val	rs1229778758	missense variant	-	NC_000014.9:g.31150074A>C	gnomAD
HECTD1	Q9ULT8	p.Ile697Met	rs769001457	missense variant	-	NC_000014.9:g.31150063G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly700Arg	rs1432331716	missense variant	-	NC_000014.9:g.31150056C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala703Gly	rs1321853384	missense variant	-	NC_000014.9:g.31150046G>C	gnomAD
HECTD1	Q9ULT8	p.Ala703Thr	rs1366733559	missense variant	-	NC_000014.9:g.31150047C>T	gnomAD
HECTD1	Q9ULT8	p.Ser708Gly	rs745905937	missense variant	-	NC_000014.9:g.31150032T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly713Val	rs1385630659	missense variant	-	NC_000014.9:g.31150016C>A	TOPMed
HECTD1	Q9ULT8	p.Ser720Arg	rs1250771400	missense variant	-	NC_000014.9:g.31149156G>T	gnomAD
HECTD1	Q9ULT8	p.Glu723Lys	rs1202699233	missense variant	-	NC_000014.9:g.31149149C>T	gnomAD
HECTD1	Q9ULT8	p.Glu726Gly	rs201555948	missense variant	-	NC_000014.9:g.31149139T>C	1000Genomes
HECTD1	Q9ULT8	p.Arg732Gln	rs1251457276	missense variant	-	NC_000014.9:g.31149121C>T	gnomAD
HECTD1	Q9ULT8	p.Gln734Pro	rs147151322	missense variant	-	NC_000014.9:g.31149115T>G	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val735Ile	rs1309918112	missense variant	-	NC_000014.9:g.31149113C>T	gnomAD
HECTD1	Q9ULT8	p.Lys736Glu	rs1220297212	missense variant	-	NC_000014.9:g.31149110T>C	gnomAD
HECTD1	Q9ULT8	p.Pro737Leu	rs1000920278	missense variant	-	NC_000014.9:g.31149106G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro737Ala	rs1404343352	missense variant	-	NC_000014.9:g.31149107G>C	TOPMed
HECTD1	Q9ULT8	p.Ser738Phe	rs1297585787	missense variant	-	NC_000014.9:g.31149103G>A	TOPMed
HECTD1	Q9ULT8	p.Thr739Pro	rs1411992832	missense variant	-	NC_000014.9:g.31149101T>G	gnomAD
HECTD1	Q9ULT8	p.Ser740Pro	rs768408652	missense variant	-	NC_000014.9:g.31149098A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln742Pro	rs993844986	missense variant	-	NC_000014.9:g.31149091T>G	TOPMed
HECTD1	Q9ULT8	p.Ile744Val	rs1056840096	missense variant	-	NC_000014.9:g.31149086T>C	TOPMed
HECTD1	Q9ULT8	p.Thr754Asn	rs1254091642	missense variant	-	NC_000014.9:g.31149055G>T	gnomAD
HECTD1	Q9ULT8	p.Thr761Lys	rs757756827	missense variant	-	NC_000014.9:g.31149034G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr761Ile	rs757756827	missense variant	-	NC_000014.9:g.31149034G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys762Tyr	rs764660870	missense variant	-	NC_000014.9:g.31149031C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile770Val	rs753054988	missense variant	-	NC_000014.9:g.31149008T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile770Leu	rs753054988	missense variant	-	NC_000014.9:g.31149008T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His771Arg	rs1329081844	missense variant	-	NC_000014.9:g.31149004T>C	gnomAD
HECTD1	Q9ULT8	p.Gln777Ter	rs1379160674	stop gained	-	NC_000014.9:g.31148987G>A	TOPMed
HECTD1	Q9ULT8	p.Lys782Asn	rs774353216	missense variant	-	NC_000014.9:g.31148970T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu783Asp	rs747375907	missense variant	-	NC_000014.9:g.31148967T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp784Gly	rs1206173384	missense variant	-	NC_000014.9:g.31148965T>C	gnomAD
HECTD1	Q9ULT8	p.Leu785Ile	rs1381552035	missense variant	-	NC_000014.9:g.31148963A>T	gnomAD
HECTD1	Q9ULT8	p.Pro786Ser	rs1303528861	missense variant	-	NC_000014.9:g.31148960G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val789Leu	rs776581105	missense variant	-	NC_000014.9:g.31148951C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr796Ser	rs1156837741	missense variant	-	NC_000014.9:g.31148929G>C	gnomAD
HECTD1	Q9ULT8	p.Ser799Leu	rs143404862	missense variant	-	NC_000014.9:g.31148920G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala802Val	rs1257758388	missense variant	-	NC_000014.9:g.31148911G>A	gnomAD
HECTD1	Q9ULT8	p.Thr804Pro	rs57637783	missense variant	-	NC_000014.9:g.31148906T>G	TOPMed
HECTD1	Q9ULT8	p.Thr804Ala	rs57637783	missense variant	-	NC_000014.9:g.31148906T>C	TOPMed
HECTD1	Q9ULT8	p.Leu806Arg	rs745517108	missense variant	-	NC_000014.9:g.31148899A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu809Asp	rs1384931822	missense variant	-	NC_000014.9:g.31148790T>G	gnomAD
HECTD1	Q9ULT8	p.Val811Met	rs1282774343	missense variant	-	NC_000014.9:g.31148786C>T	gnomAD
HECTD1	Q9ULT8	p.Thr812Ala	rs758479061	missense variant	-	NC_000014.9:g.31148783T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr815Ser	rs1479532818	missense variant	-	NC_000014.9:g.31148773G>C	TOPMed
HECTD1	Q9ULT8	p.Thr815Ala	rs750564113	missense variant	-	NC_000014.9:g.31148774T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly819Cys	rs76272797	missense variant	-	NC_000014.9:g.31148762C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys823Ile	rs1458984308	missense variant	-	NC_000014.9:g.31148749T>A	TOPMed
HECTD1	Q9ULT8	p.Glu827Gly	rs760651756	missense variant	-	NC_000014.9:g.31148737T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr829Pro	rs868194793	missense variant	-	NC_000014.9:g.31148732T>G	TOPMed
HECTD1	Q9ULT8	p.Thr829Ala	rs868194793	missense variant	-	NC_000014.9:g.31148732T>C	TOPMed
HECTD1	Q9ULT8	p.Gln831Leu	rs896657423	missense variant	-	NC_000014.9:g.31148725T>A	gnomAD
HECTD1	Q9ULT8	p.Gln831Arg	rs896657423	missense variant	-	NC_000014.9:g.31148725T>C	gnomAD
HECTD1	Q9ULT8	p.Arg834Gln	rs762737350	missense variant	-	NC_000014.9:g.31144937C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg838Ter	rs773027749	stop gained	-	NC_000014.9:g.31144926G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg838Pro	rs201294046	missense variant	-	NC_000014.9:g.31144925C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg838Gln	rs201294046	missense variant	-	NC_000014.9:g.31144925C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp839Glu	rs775936710	missense variant	-	NC_000014.9:g.31144921A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu840Ile	rs373355662	missense variant	-	NC_000014.9:g.31144920A>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp842Asn	rs772392792	missense variant	-	NC_000014.9:g.31144914C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp842Tyr	rs772392792	missense variant	-	NC_000014.9:g.31144914C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala847Val	rs779124645	missense variant	-	NC_000014.9:g.31144898G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser850Asn	rs754020833	missense variant	-	NC_000014.9:g.31144889C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser850Arg	rs1476703494	missense variant	-	NC_000014.9:g.31144888G>T	gnomAD
HECTD1	Q9ULT8	p.Met851Arg	rs777701778	missense variant	-	NC_000014.9:g.31144886A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met851Thr	rs777701778	missense variant	-	NC_000014.9:g.31144886A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro852Leu	rs1436320168	missense variant	-	NC_000014.9:g.31144883G>A	TOPMed
HECTD1	Q9ULT8	p.Arg853Cys	rs1326871119	missense variant	-	NC_000014.9:g.31144881G>A	gnomAD
HECTD1	Q9ULT8	p.Val856Ala	rs754992476	missense variant	-	NC_000014.9:g.31144871A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val857Leu	rs1193523294	missense variant	-	NC_000014.9:g.31144869C>A	gnomAD
HECTD1	Q9ULT8	p.Val857Ala	rs751423256	missense variant	-	NC_000014.9:g.31144868A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile862Val	rs1454183723	missense variant	-	NC_000014.9:g.31144854T>C	gnomAD
HECTD1	Q9ULT8	p.Ile862Met	rs762860849	missense variant	-	NC_000014.9:g.31144852T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala863Pro	rs1320532384	missense variant	-	NC_000014.9:g.31144851C>G	gnomAD
HECTD1	Q9ULT8	p.Glu871Lys	rs1411968245	missense variant	-	NC_000014.9:g.31144827C>T	gnomAD
HECTD1	Q9ULT8	p.His873Arg	rs1253045772	missense variant	-	NC_000014.9:g.31144820T>C	TOPMed
HECTD1	Q9ULT8	p.Thr874Ala	rs1185760101	missense variant	-	NC_000014.9:g.31144818T>C	gnomAD
HECTD1	Q9ULT8	p.Thr874Lys	rs761548619	missense variant	-	NC_000014.9:g.31144817G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn875Lys	rs370184184	missense variant	-	NC_000014.9:g.31144813A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln877Arg	rs1389606671	missense variant	-	NC_000014.9:g.31144808T>C	gnomAD
HECTD1	Q9ULT8	p.Cys878Arg	rs1228804712	missense variant	-	NC_000014.9:g.31144257A>G	TOPMed
HECTD1	Q9ULT8	p.Glu880Gln	rs1274915096	missense variant	-	NC_000014.9:g.31144251C>G	TOPMed
HECTD1	Q9ULT8	p.Glu882Asp	rs756979673	missense variant	-	NC_000014.9:g.31144243C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu882Lys	rs765106677	missense variant	-	NC_000014.9:g.31144245C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys890Gln	rs1224392849	missense variant	-	NC_000014.9:g.31144221T>G	gnomAD
HECTD1	Q9ULT8	p.Thr891Ser	rs753398902	missense variant	-	NC_000014.9:g.31144218T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu893Ser	rs1273388997	missense variant	-	NC_000014.9:g.31144211A>G	gnomAD
HECTD1	Q9ULT8	p.Asn895Ser	rs763760019	missense variant	-	NC_000014.9:g.31144205T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val898Ile	rs1308740918	missense variant	-	NC_000014.9:g.31144197C>T	gnomAD
HECTD1	Q9ULT8	p.Val898Ala	rs760119619	missense variant	-	NC_000014.9:g.31144196A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu899Phe	rs775001546	missense variant	-	NC_000014.9:g.31144194G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu900Ser	rs1285616276	missense variant	-	NC_000014.9:g.31144190A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp902Glu	rs1405874739	missense variant	-	NC_000014.9:g.31144183A>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile906Val	rs757106907	missense variant	-	NC_000014.9:g.31144173T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile906Thr	rs760028063	missense variant	-	NC_000014.9:g.31144172A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro908Ser	rs1029520275	missense variant	-	NC_000014.9:g.31144167G>A	TOPMed
HECTD1	Q9ULT8	p.Glu910Gly	rs1463628083	missense variant	-	NC_000014.9:g.31144160T>C	gnomAD
HECTD1	Q9ULT8	p.Gly915Ser	rs930145918	missense variant	-	NC_000014.9:g.31144146C>T	TOPMed
HECTD1	Q9ULT8	p.Val923Met	rs1427037940	missense variant	-	NC_000014.9:g.31144122C>T	gnomAD
HECTD1	Q9ULT8	p.Val923Ala	rs367754588	missense variant	-	NC_000014.9:g.31144121A>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn926Tyr	rs1175081380	missense variant	-	NC_000014.9:g.31144113T>A	gnomAD
HECTD1	Q9ULT8	p.Asn926Ser	rs773331072	missense variant	-	NC_000014.9:g.31144112T>C	ExAC
HECTD1	Q9ULT8	p.Met928Val	rs200350849	missense variant	-	NC_000014.9:g.31141949T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met932Val	rs752038815	missense variant	-	NC_000014.9:g.31141937T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys933Gln	rs749107980	missense variant	-	NC_000014.9:g.31141934T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp935Tyr	rs371069986	missense variant	-	NC_000014.9:g.31141928C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Cys936Gly	rs755776072	missense variant	-	NC_000014.9:g.31141925A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser937Gly	rs752316549	missense variant	-	NC_000014.9:g.31141922T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser937Arg	rs752316549	missense variant	-	NC_000014.9:g.31141922T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile943Met	rs780783696	missense variant	-	NC_000014.9:g.31141902T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile943Val	rs1244021369	missense variant	-	NC_000014.9:g.31141904T>C	gnomAD
HECTD1	Q9ULT8	p.Val945Ile	rs368964893	missense variant	-	NC_000014.9:g.31141898C>T	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe946Leu	rs754508677	missense variant	-	NC_000014.9:g.31141893A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys947Thr	rs766797998	missense variant	-	NC_000014.9:g.31141891T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys947Glu	rs751014789	missense variant	-	NC_000014.9:g.31141892T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr948Ala	rs763508731	missense variant	-	NC_000014.9:g.31141889T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala949Val	rs1478729942	missense variant	-	NC_000014.9:g.31141885G>A	TOPMed
HECTD1	Q9ULT8	p.Ser951Thr	rs1292683180	missense variant	-	NC_000014.9:g.31141879C>G	gnomAD
HECTD1	Q9ULT8	p.Asp956Glu	rs1163684356	missense variant	-	NC_000014.9:g.31141863A>C	gnomAD
HECTD1	Q9ULT8	p.Glu957Asp	rs1448456812	missense variant	-	NC_000014.9:g.31141860T>A	gnomAD
HECTD1	Q9ULT8	p.Ser958Cys	rs1448337628	missense variant	-	NC_000014.9:g.31141859T>A	gnomAD
HECTD1	Q9ULT8	p.Arg959Gln	rs373736992	missense variant	-	NC_000014.9:g.31139995C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala963Gly	rs754195624	missense variant	-	NC_000014.9:g.31139983G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg966Gln	rs376639276	missense variant	-	NC_000014.9:g.31139974C>T	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg966Pro	rs376639276	missense variant	-	NC_000014.9:g.31139974C>G	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu968Ser	rs982836656	missense variant	-	NC_000014.9:g.31139968A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala970Val	rs373472247	missense variant	-	NC_000014.9:g.31139962G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu972Val	rs767603672	missense variant	-	NC_000014.9:g.31139957G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile975Val	rs1430458132	missense variant	-	NC_000014.9:g.31139948T>C	gnomAD
HECTD1	Q9ULT8	p.Arg977His	rs1470510768	missense variant	-	NC_000014.9:g.31139941C>T	TOPMed
HECTD1	Q9ULT8	p.Arg977Cys	rs759498422	missense variant	-	NC_000014.9:g.31139942G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro979Thr	rs1468803199	missense variant	-	NC_000014.9:g.31139936G>T	gnomAD
HECTD1	Q9ULT8	p.Pro979Leu	rs773226972	missense variant	-	NC_000014.9:g.31139935G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu980Phe	rs1182700067	missense variant	-	NC_000014.9:g.31139933G>A	gnomAD
HECTD1	Q9ULT8	p.His981Arg	rs906954730	missense variant	-	NC_000014.9:g.31139929T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr983Cys	rs368864658	missense variant	-	NC_000014.9:g.31139923T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp984Val	rs1326779493	missense variant	-	NC_000014.9:g.31139920T>A	TOPMed
HECTD1	Q9ULT8	p.Thr985Ile	rs747943699	missense variant	-	NC_000014.9:g.31139917G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser988Thr	rs776403711	missense variant	-	NC_000014.9:g.31139909A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu992Val	rs1331165045	missense variant	-	NC_000014.9:g.31139897G>C	TOPMed
HECTD1	Q9ULT8	p.Ile994Val	rs749782269	missense variant	-	NC_000014.9:g.31136665T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile994Leu	rs749782269	missense variant	-	NC_000014.9:g.31136665T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr996Arg	rs1363868646	missense variant	-	NC_000014.9:g.31136658G>C	gnomAD
HECTD1	Q9ULT8	p.Arg998Ile	rs961869282	missense variant	-	NC_000014.9:g.31136652C>A	gnomAD
HECTD1	Q9ULT8	p.Arg998Lys	rs961869282	missense variant	-	NC_000014.9:g.31136652C>T	gnomAD
HECTD1	Q9ULT8	p.Arg1000Pro	rs756573551	missense variant	-	NC_000014.9:g.31136646C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1002Trp	rs781483780	missense variant	-	NC_000014.9:g.31136641G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1002Gln	rs755152978	missense variant	-	NC_000014.9:g.31136640C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1004Gln	rs930750776	missense variant	-	NC_000014.9:g.31136635C>G	TOPMed
HECTD1	Q9ULT8	p.Arg1005His	rs766420959	missense variant	-	NC_000014.9:g.31136631C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1006Gly	rs761775793	missense variant	-	NC_000014.9:g.31136628G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys1021Arg	rs1224163689	missense variant	-	NC_000014.9:g.31136583T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1022Thr	rs763970973	missense variant	-	NC_000014.9:g.31136580A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1026Pro	rs1036797158	missense variant	-	NC_000014.9:g.31136569C>G	TOPMed
HECTD1	Q9ULT8	p.Thr1027Ile	rs375421611	missense variant	-	NC_000014.9:g.31136565G>A	ESP,gnomAD
HECTD1	Q9ULT8	p.Glu1029Lys	rs1339496274	missense variant	-	NC_000014.9:g.31136560C>T	TOPMed
HECTD1	Q9ULT8	p.Leu1031Val	rs1364645482	missense variant	-	NC_000014.9:g.31136554G>C	gnomAD
HECTD1	Q9ULT8	p.Gln1033Pro	rs1404654942	missense variant	-	NC_000014.9:g.31136547T>G	gnomAD
HECTD1	Q9ULT8	p.Tyr1034His	rs1203966015	missense variant	-	NC_000014.9:g.31136545A>G	TOPMed
HECTD1	Q9ULT8	p.Leu1035Phe	rs760531445	missense variant	-	NC_000014.9:g.31136542G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1036Met	rs1251581420	missense variant	-	NC_000014.9:g.31136539A>T	TOPMed
HECTD1	Q9ULT8	p.Met1038Arg	rs199517581	missense variant	-	NC_000014.9:g.31136532A>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1040Thr	rs1296538647	missense variant	-	NC_000014.9:g.31135612C>T	gnomAD
HECTD1	Q9ULT8	p.Lys1041Asn	rs750443961	missense variant	-	NC_000014.9:g.31135607T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1048Gln	rs1171264765	missense variant	-	NC_000014.9:g.31135587C>T	gnomAD
HECTD1	Q9ULT8	p.Ser1049Cys	rs764022151	missense variant	-	NC_000014.9:g.31135584G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1055Gln	rs1178270575	missense variant	-	NC_000014.9:g.31135566C>T	gnomAD
HECTD1	Q9ULT8	p.Lys1056Thr	rs1433411090	missense variant	-	NC_000014.9:g.31135563T>G	gnomAD
HECTD1	Q9ULT8	p.Leu1057Ile	rs1180986608	missense variant	-	NC_000014.9:g.31135561A>T	TOPMed
HECTD1	Q9ULT8	p.Gly1060Arg	rs1003100577	missense variant	-	NC_000014.9:g.31135552C>T	TOPMed
HECTD1	Q9ULT8	p.Asn1062His	rs1455290943	missense variant	-	NC_000014.9:g.31135546T>G	TOPMed
HECTD1	Q9ULT8	p.Ile1064Met	rs767187305	missense variant	-	NC_000014.9:g.31135538T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1064Val	rs752588141	missense variant	-	NC_000014.9:g.31135540T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1066Trp	rs759336398	missense variant	-	NC_000014.9:g.31135534G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1068Arg	rs1239359996	missense variant	-	NC_000014.9:g.31135527T>C	gnomAD
HECTD1	Q9ULT8	p.Asp1070Asn	rs1203564398	missense variant	-	NC_000014.9:g.31135522C>T	gnomAD
HECTD1	Q9ULT8	p.Asn1074His	rs939054702	missense variant	-	NC_000014.9:g.31135510T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1074Tyr	rs939054702	missense variant	-	NC_000014.9:g.31135510T>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1077Met	rs1234349543	missense variant	-	NC_000014.9:g.31135499A>C	gnomAD
HECTD1	Q9ULT8	p.Trp1079Cys	rs770653648	missense variant	-	NC_000014.9:g.31135493C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1082Ala	rs1225579920	missense variant	-	NC_000014.9:g.31135486T>C	gnomAD
HECTD1	Q9ULT8	p.Ala1084Gly	rs1336112202	missense variant	-	NC_000014.9:g.31135479G>C	gnomAD
HECTD1	Q9ULT8	p.Ala1084Thr	rs762560439	missense variant	-	NC_000014.9:g.31135480C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys1085Glu	rs1425494318	missense variant	-	NC_000014.9:g.31135477T>C	TOPMed
HECTD1	Q9ULT8	p.Lys1085Ile	rs772847091	missense variant	-	NC_000014.9:g.31135476T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1094Thr	rs751337934	missense variant	-	NC_000014.9:g.31135170C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1094Asp	rs766203387	missense variant	-	NC_000014.9:g.31135169G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1097Glu	rs1396429390	missense variant	-	NC_000014.9:g.31135160C>T	gnomAD
HECTD1	Q9ULT8	p.Val1099Ile	rs1171443767	missense variant	-	NC_000014.9:g.31135155C>T	TOPMed
HECTD1	Q9ULT8	p.Thr1102Met	rs533239121	missense variant	-	NC_000014.9:g.31135145G>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1104Ala	rs1375116483	missense variant	-	NC_000014.9:g.31135140A>C	TOPMed
HECTD1	Q9ULT8	p.Arg1113Cys	rs374023878	missense variant	-	NC_000014.9:g.31135113G>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1113His	rs1398262686	missense variant	-	NC_000014.9:g.31135112C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1117Val	rs777023454	missense variant	-	NC_000014.9:g.31135101T>C	ExAC
HECTD1	Q9ULT8	p.Leu1118Pro	rs1188832748	missense variant	-	NC_000014.9:g.31135097A>G	gnomAD
HECTD1	Q9ULT8	p.Ser1119Asn	rs1359909331	missense variant	-	NC_000014.9:g.31135094C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1120His	rs544195129	missense variant	-	NC_000014.9:g.31135091C>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1120Leu	rs544195129	missense variant	-	NC_000014.9:g.31135091C>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1120Cys	rs962265201	missense variant	-	NC_000014.9:g.31135092G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1123Ter	rs1220435075	stop gained	-	NC_000014.9:g.31135082G>C	gnomAD
HECTD1	Q9ULT8	p.Asn1126Ser	rs775827092	missense variant	-	NC_000014.9:g.31135073T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1130Ser	rs1325742470	missense variant	-	NC_000014.9:g.31135061T>C	gnomAD
HECTD1	Q9ULT8	p.Asn1134Ser	rs779157588	missense variant	-	NC_000014.9:g.31135049T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1138Val	rs981310714	missense variant	-	NC_000014.9:g.31135037G>A	TOPMed
HECTD1	Q9ULT8	p.Ile1139Leu	rs1302113700	missense variant	-	NC_000014.9:g.31135035T>G	gnomAD
HECTD1	Q9ULT8	p.Ile1139Val	rs1302113700	missense variant	-	NC_000014.9:g.31135035T>C	gnomAD
HECTD1	Q9ULT8	p.Gly1142Cys	rs1422270598	missense variant	-	NC_000014.9:g.31135026C>A	gnomAD
HECTD1	Q9ULT8	p.Trp1144Arg	rs1163296253	missense variant	-	NC_000014.9:g.31135020A>G	gnomAD
HECTD1	Q9ULT8	p.Val1145Met	rs749331678	missense variant	-	NC_000014.9:g.31135017C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1147Leu	rs1173057708	missense variant	-	NC_000014.9:g.31135010G>A	gnomAD
HECTD1	Q9ULT8	p.Arg1153Cys	rs766258183	missense variant	-	NC_000014.9:g.31134993G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1156Cys	rs1338732936	missense variant	-	NC_000014.9:g.31134984G>A	gnomAD
HECTD1	Q9ULT8	p.Asn1165Ser	rs764890856	missense variant	-	NC_000014.9:g.31134956T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1167Phe	rs761239314	missense variant	-	NC_000014.9:g.31134951C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Phe1168Leu	rs1476556069	missense variant	-	NC_000014.9:g.31134946G>C	gnomAD
HECTD1	Q9ULT8	p.Lys1172Arg	rs776138734	missense variant	-	NC_000014.9:g.31134935T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Trp1177Ter	rs1176091257	stop gained	-	NC_000014.9:g.31134919C>T	TOPMed
HECTD1	Q9ULT8	p.Ser1179Tyr	rs764575979	missense variant	-	NC_000014.9:g.31134914G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1180Ser	rs761154685	missense variant	-	NC_000014.9:g.31134911A>G	ExAC,TOPMed
HECTD1	Q9ULT8	p.Thr1182Ile	rs1390295200	missense variant	-	NC_000014.9:g.31134905G>A	gnomAD
HECTD1	Q9ULT8	p.His1183Tyr	rs1173415506	missense variant	-	NC_000014.9:g.31134903G>A	gnomAD
HECTD1	Q9ULT8	p.His1183Arg	rs772458480	missense variant	-	NC_000014.9:g.31134902T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys1187Tyr	rs1174678041	missense variant	-	NC_000014.9:g.31134890C>T	gnomAD
HECTD1	Q9ULT8	p.Asn1190Ser	rs774451100	missense variant	-	NC_000014.9:g.31134881T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1191Gly	rs1181265837	missense variant	-	NC_000014.9:g.31134878T>C	gnomAD
HECTD1	Q9ULT8	p.Thr1195Ala	rs760140425	missense variant	-	NC_000014.9:g.31133671T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1197Ser	rs1278950807	missense variant	-	NC_000014.9:g.31133665T>A	gnomAD
HECTD1	Q9ULT8	p.Thr1197Asn	rs1204205614	missense variant	-	NC_000014.9:g.31133664G>T	gnomAD
HECTD1	Q9ULT8	p.Asp1205Asn	rs1488131733	missense variant	-	NC_000014.9:g.31133641C>T	TOPMed
HECTD1	Q9ULT8	p.Asp1205His	rs1488131733	missense variant	-	NC_000014.9:g.31133641C>G	TOPMed
HECTD1	Q9ULT8	p.Arg1214Lys	rs753228146	missense variant	-	NC_000014.9:g.31133613C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1214Ile	rs753228146	missense variant	-	NC_000014.9:g.31133613C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1215Met	rs767954866	missense variant	-	NC_000014.9:g.31133609A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys1216Gln	rs1340010577	missense variant	-	NC_000014.9:g.31133608T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1218Ile	rs1313519147	missense variant	-	NC_000014.9:g.31133600C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys1220Ile	rs1450694238	missense variant	-	NC_000014.9:g.31133595T>A	gnomAD
HECTD1	Q9ULT8	p.Lys1220Asn	rs568495561	missense variant	-	NC_000014.9:g.31133594T>G	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1239Ala	rs763217492	missense variant	-	NC_000014.9:g.31133539T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1240Ile	rs773208064	missense variant	-	NC_000014.9:g.31133536C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1241Ile	rs770022695	missense variant	-	NC_000014.9:g.31133532T>A	ExAC
HECTD1	Q9ULT8	p.Gly1242Glu	rs748187834	missense variant	-	NC_000014.9:g.31133529C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys1244Tyr	rs1473707557	missense variant	-	NC_000014.9:g.31133523C>T	gnomAD
HECTD1	Q9ULT8	p.Glu1245Gly	rs1237870311	missense variant	-	NC_000014.9:g.31133520T>C	gnomAD
HECTD1	Q9ULT8	p.Gln1247Ter	rs780150180	stop gained	-	NC_000014.9:g.31133515G>A	ExAC
HECTD1	Q9ULT8	p.Ala1251Val	rs1253683954	missense variant	-	NC_000014.9:g.31133408G>A	gnomAD
HECTD1	Q9ULT8	p.Lys1253Glu	rs1180855414	missense variant	-	NC_000014.9:g.31133403T>C	gnomAD
HECTD1	Q9ULT8	p.Ala1257Gly	rs770079178	missense variant	-	NC_000014.9:g.31133390G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1261Trp	rs761985708	missense variant	-	NC_000014.9:g.31133379G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1261Gln	rs772194444	missense variant	-	NC_000014.9:g.31133378C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1261Pro	rs772194444	missense variant	-	NC_000014.9:g.31133378C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1263Gly	rs745794632	missense variant	-	NC_000014.9:g.31133373T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1264Cys	rs774052729	missense variant	-	NC_000014.9:g.31133370G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1266Ile	rs748980402	missense variant	-	NC_000014.9:g.31133364C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1267His	rs1279187861	missense variant	-	NC_000014.9:g.31133360C>T	gnomAD
HECTD1	Q9ULT8	p.Val1270Leu	rs777407786	missense variant	-	NC_000014.9:g.31133352C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1270Ile	rs777407786	missense variant	-	NC_000014.9:g.31133352C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1274Val	rs755760722	missense variant	-	NC_000014.9:g.31133340T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met1274Ile	rs375623416	missense variant	-	NC_000014.9:g.31133338C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1274Ile	rs375623416	missense variant	-	NC_000014.9:g.31133338C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1278Gly	rs1434233403	missense variant	-	NC_000014.9:g.31133327G>C	TOPMed
HECTD1	Q9ULT8	p.Arg1279His	rs201513517	missense variant	-	NC_000014.9:g.31133324C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1279Cys	rs780660891	missense variant	-	NC_000014.9:g.31133325G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1280Ile	rs1463955006	missense variant	-	NC_000014.9:g.31133322C>T	gnomAD
HECTD1	Q9ULT8	p.Ile1281Val	rs752142523	missense variant	-	NC_000014.9:g.31133319T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Trp1286Ter	rs1479912522	stop gained	-	NC_000014.9:g.31133303C>T	gnomAD
HECTD1	Q9ULT8	p.Trp1288Arg	rs1317808549	missense variant	-	NC_000014.9:g.31133298A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1289Gln	rs368630382	missense variant	-	NC_000014.9:g.31133294C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp1292Asn	rs750748737	missense variant	-	NC_000014.9:g.31133286C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1293Ser	rs765619011	missense variant	-	NC_000014.9:g.31133283C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1295Thr	rs762112462	missense variant	-	NC_000014.9:g.31133277G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1307Asp	rs1489745052	missense variant	-	NC_000014.9:g.31133241T>C	TOPMed
HECTD1	Q9ULT8	p.Asn1307Ser	rs749150360	missense variant	-	NC_000014.9:g.31133240T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1307Thr	rs749150360	missense variant	-	NC_000014.9:g.31133240T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1310Met	rs200455930	missense variant	-	NC_000014.9:g.31129441A>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1312Ile	rs1434872095	missense variant	-	NC_000014.9:g.31129437C>T	TOPMed
HECTD1	Q9ULT8	p.Asp1315Glu	rs760814555	missense variant	-	NC_000014.9:g.31129426A>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1316Val	rs1309845920	missense variant	-	NC_000014.9:g.31129424G>A	gnomAD
HECTD1	Q9ULT8	p.Gly1317Arg	rs374628401	missense variant	-	NC_000014.9:g.31129422C>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr1322Phe	rs1304333819	missense variant	-	NC_000014.9:g.31129406T>A	gnomAD
HECTD1	Q9ULT8	p.Arg1323His	rs370593762	missense variant	-	NC_000014.9:g.31129403C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1324Val	rs1156369293	missense variant	-	NC_000014.9:g.31129401T>C	gnomAD
HECTD1	Q9ULT8	p.Gly1325Asp	rs1163709999	missense variant	-	NC_000014.9:g.31129397C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1326Thr	rs762858512	missense variant	-	NC_000014.9:g.31129395C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys1329Arg	rs1381520470	missense variant	-	NC_000014.9:g.31129385T>C	gnomAD
HECTD1	Q9ULT8	p.Lys1333Arg	rs761550936	missense variant	-	NC_000014.9:g.31129373T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1337Ala	rs1182745774	missense variant	-	NC_000014.9:g.31129361C>G	gnomAD
HECTD1	Q9ULT8	p.Asp1339Asn	rs1218937677	missense variant	-	NC_000014.9:g.31129356C>T	gnomAD
HECTD1	Q9ULT8	p.Asp1339Glu	rs1354472615	missense variant	-	NC_000014.9:g.31129354G>C	gnomAD
HECTD1	Q9ULT8	p.Pro1340Ser	rs768122107	missense variant	-	NC_000014.9:g.31129353G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1348Ser	rs1319789232	missense variant	-	NC_000014.9:g.31129329G>A	gnomAD
HECTD1	Q9ULT8	p.Pro1348Arg	rs779414861	missense variant	-	NC_000014.9:g.31129328G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1348Leu	rs779414861	missense variant	-	NC_000014.9:g.31129328G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1349Leu	rs1396381071	missense variant	-	NC_000014.9:g.31129326C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1350Thr	rs750135625	missense variant	-	NC_000014.9:g.31129323A>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1350Ala	rs750135625	missense variant	-	NC_000014.9:g.31129323A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1352Ala	rs1321651503	missense variant	-	NC_000014.9:g.31129317T>C	TOPMed
HECTD1	Q9ULT8	p.Ser1354Thr	rs746344166	missense variant	-	NC_000014.9:g.31129311A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1355Asp	rs779521911	missense variant	-	NC_000014.9:g.31129307C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1356Ala	rs548230741	missense variant	-	NC_000014.9:g.31129305T>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1357Ala	rs754189564	missense variant	-	NC_000014.9:g.31129302T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1357Met	rs778124249	missense variant	-	NC_000014.9:g.31129301G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1361Ile	rs1233368648	missense variant	-	NC_000014.9:g.31129289C>A	TOPMed
HECTD1	Q9ULT8	p.Ser1362Asn	rs1007670842	missense variant	-	NC_000014.9:g.31129286C>T	TOPMed
HECTD1	Q9ULT8	p.Asn1367Ser	rs376334029	missense variant	-	NC_000014.9:g.31129271T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1369Ala	rs759576521	missense variant	-	NC_000014.9:g.31129266G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1370Glu	rs750386576	missense variant	-	NC_000014.9:g.31129261G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1372Ile	rs1487499741	missense variant	-	NC_000014.9:g.31129256G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1373Tyr	rs1486751293	missense variant	-	NC_000014.9:g.31129253G>T	TOPMed
HECTD1	Q9ULT8	p.Ser1373Thr	rs761596142	missense variant	-	NC_000014.9:g.31129254A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1373Pro	rs761596142	missense variant	-	NC_000014.9:g.31129254A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1377Ala	rs763192596	missense variant	-	NC_000014.9:g.31129241C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1377Val	rs763192596	missense variant	-	NC_000014.9:g.31129241C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1377Asp	rs763192596	missense variant	-	NC_000014.9:g.31129241C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1379Leu	rs1201706783	missense variant	-	NC_000014.9:g.31129235G>A	TOPMed
HECTD1	Q9ULT8	p.Ser1380Gly	rs1340684652	missense variant	-	NC_000014.9:g.31129233T>C	gnomAD
HECTD1	Q9ULT8	p.Ser1380Asn	rs1487553478	missense variant	-	NC_000014.9:g.31129232C>T	gnomAD
HECTD1	Q9ULT8	p.Arg1381Lys	rs1472304612	missense variant	-	NC_000014.9:g.31129229C>T	TOPMed
HECTD1	Q9ULT8	p.Gly1383Arg	rs1322368153	missense variant	-	NC_000014.9:g.31129224C>G	gnomAD
HECTD1	Q9ULT8	p.Ser1384Gly	rs72670356	missense variant	-	NC_000014.9:g.31129221T>C	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1384Asn	rs1393562363	missense variant	-	NC_000014.9:g.31129220C>T	gnomAD
HECTD1	Q9ULT8	p.Val1388Met	rs547429166	missense variant	-	NC_000014.9:g.31129209C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1388Leu	rs547429166	missense variant	-	NC_000014.9:g.31129209C>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys1389Arg	rs775103774	missense variant	-	NC_000014.9:g.31129206A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1390Asn	rs920943878	missense variant	-	NC_000014.9:g.31129202C>T	TOPMed
HECTD1	Q9ULT8	p.Val1391Met	rs200985475	missense variant	-	NC_000014.9:g.31129200C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1391Leu	rs200985475	missense variant	-	NC_000014.9:g.31129200C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1393Asn	rs779568622	missense variant	-	NC_000014.9:g.31129193C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1396Asn	rs550393312	missense variant	-	NC_000014.9:g.31129185C>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1401Leu	rs777979962	missense variant	-	NC_000014.9:g.31129169G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1402Ala	rs752896331	missense variant	-	NC_000014.9:g.31129167T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys1403Arg	rs368839384	missense variant	-	NC_000014.9:g.31129163T>C	ESP,TOPMed
HECTD1	Q9ULT8	p.Thr1404Met	rs781430645	missense variant	-	NC_000014.9:g.31129160G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1406Gln	rs202133227	missense variant	-	NC_000014.9:g.31129154C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1406Pro	rs202133227	missense variant	-	NC_000014.9:g.31129154C>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1406Trp	rs751568766	missense variant	-	NC_000014.9:g.31129155G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1407Ile	rs761722875	missense variant	-	NC_000014.9:g.31129151C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1411Ile	rs753712447	missense variant	-	NC_000014.9:g.31129140C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met1412Ile	rs763765447	missense variant	-	NC_000014.9:g.31129135C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1417Ala	rs1401818956	missense variant	-	NC_000014.9:g.31129121A>G	gnomAD
HECTD1	Q9ULT8	p.His1423Arg	rs369383258	missense variant	-	NC_000014.9:g.31129103T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.His1423Leu	rs369383258	missense variant	-	NC_000014.9:g.31129103T>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1426Val	rs75345169	missense variant	-	NC_000014.9:g.31129095T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1427Leu	rs1181103208	missense variant	-	NC_000014.9:g.31129092C>G	gnomAD
HECTD1	Q9ULT8	p.Val1427Phe	rs1181103208	missense variant	-	NC_000014.9:g.31129092C>A	gnomAD
HECTD1	Q9ULT8	p.Leu1429Val	rs769971819	missense variant	-	NC_000014.9:g.31129086G>C	-
HECTD1	Q9ULT8	p.Ser1430Pro	rs1180318371	missense variant	-	NC_000014.9:g.31129083A>G	gnomAD
HECTD1	Q9ULT8	p.Ser1431Thr	rs1458026867	missense variant	-	NC_000014.9:g.31129080A>T	gnomAD
HECTD1	Q9ULT8	p.Glu1433Ala	rs1482799232	missense variant	-	NC_000014.9:g.31129073T>G	TOPMed
HECTD1	Q9ULT8	p.Val1435Ile	rs771616409	missense variant	-	NC_000014.9:g.31129068C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1443Pro	rs770081924	missense variant	-	NC_000014.9:g.31129044A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1445Arg	rs781393992	missense variant	-	NC_000014.9:g.31129038T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1449Gly	rs1439475502	missense variant	-	NC_000014.9:g.31129026T>C	gnomAD
HECTD1	Q9ULT8	p.Thr1452Ala	rs753748185	missense variant	-	NC_000014.9:g.31129017T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1452Ile	rs965270535	missense variant	-	NC_000014.9:g.31129016G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1453Val	rs372829512	missense variant	-	NC_000014.9:g.31129013G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1455Met	rs1378455661	missense variant	-	NC_000014.9:g.31129007G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1459Asp	rs1311569388	missense variant	-	NC_000014.9:g.31128996T>C	TOPMed
HECTD1	Q9ULT8	p.Glu1461Lys	rs759243908	missense variant	-	NC_000014.9:g.31128990C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1464Ile	rs1489289668	missense variant	-	NC_000014.9:g.31128981A>T	gnomAD
HECTD1	Q9ULT8	p.Gly1465Ala	rs766020309	missense variant	-	NC_000014.9:g.31128977C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1468Gly	rs1215315817	missense variant	-	NC_000014.9:g.31128969T>C	gnomAD
HECTD1	Q9ULT8	p.Ser1469Phe	rs762479037	missense variant	-	NC_000014.9:g.31128965G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1470Phe	rs367637104	missense variant	-	NC_000014.9:g.31128963C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1471Cys	rs748524391	missense variant	-	NC_000014.9:g.31128960G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1471His	rs375059610	missense variant	-	NC_000014.9:g.31128959C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1471Ser	rs748524391	missense variant	-	NC_000014.9:g.31128960G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1471Leu	rs375059610	missense variant	-	NC_000014.9:g.31128959C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1473Ala	rs1450628503	missense variant	-	NC_000014.9:g.31128954G>C	gnomAD
HECTD1	Q9ULT8	p.Gly1474Ala	rs1284160779	missense variant	-	NC_000014.9:g.31128950C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1474Trp	rs768912046	missense variant	-	NC_000014.9:g.31128951C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1474Arg	rs768912046	missense variant	-	NC_000014.9:g.31128951C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1475Gly	rs1216097485	missense variant	-	NC_000014.9:g.31128947T>C	gnomAD
HECTD1	Q9ULT8	p.Ala1478Thr	rs1362569251	missense variant	-	NC_000014.9:g.31128939C>T	gnomAD
HECTD1	Q9ULT8	p.Ile1479Val	rs780207610	missense variant	-	NC_000014.9:g.31128936T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1480Cys	rs1401228434	missense variant	-	NC_000014.9:g.31128932G>C	gnomAD
HECTD1	Q9ULT8	p.Met1481Val	rs1412965922	missense variant	-	NC_000014.9:g.31128930T>C	gnomAD
HECTD1	Q9ULT8	p.Met1481Thr	rs758428010	missense variant	-	NC_000014.9:g.31128929A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1481Arg	rs758428010	missense variant	-	NC_000014.9:g.31128929A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1483Leu	rs1473639868	missense variant	-	NC_000014.9:g.31128924T>G	gnomAD
HECTD1	Q9ULT8	p.Val1484Ile	rs745901352	missense variant	-	NC_000014.9:g.31128921C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1486Ile	rs777575171	missense variant	-	NC_000014.9:g.31128915C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1488Cys	rs372076268	missense variant	-	NC_000014.9:g.31128908G>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1494Ile	rs767390756	missense variant	-	NC_000014.9:g.31128891C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1501Ala	rs754782224	missense variant	-	NC_000014.9:g.31128869T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1506Gln	rs1355846019	missense variant	-	NC_000014.9:g.31128854C>T	TOPMed
HECTD1	Q9ULT8	p.Ser1509Arg	rs199605586	missense variant	-	NC_000014.9:g.31128844G>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1509Ile	rs1435844986	missense variant	-	NC_000014.9:g.31128845C>A	gnomAD
HECTD1	Q9ULT8	p.Ser1509Gly	rs762378038	missense variant	-	NC_000014.9:g.31128846T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1515Ile	rs1454405452	missense variant	-	NC_000014.9:g.31128827C>A	TOPMed
HECTD1	Q9ULT8	p.Val1518Met	rs374025669	missense variant	-	NC_000014.9:g.31128819C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1518Leu	rs374025669	missense variant	-	NC_000014.9:g.31128819C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1523Asp	rs769038572	missense variant	-	NC_000014.9:g.31128803G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1524Gly	rs1477395652	missense variant	-	NC_000014.9:g.31128800G>C	gnomAD
HECTD1	Q9ULT8	p.Ala1524Ser	rs1186636074	missense variant	-	NC_000014.9:g.31128801C>A	gnomAD
HECTD1	Q9ULT8	p.Met1528Val	rs1244422823	missense variant	-	NC_000014.9:g.31128789T>C	gnomAD
HECTD1	Q9ULT8	p.Ser1530Cys	rs760978985	missense variant	-	NC_000014.9:g.31128782G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1539Leu	rs775702548	missense variant	-	NC_000014.9:g.31128755G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1544Gly	rs1197126457	missense variant	-	NC_000014.9:g.31128741T>C	gnomAD
HECTD1	Q9ULT8	p.Val1549Leu	rs1320360107	missense variant	-	NC_000014.9:g.31128726C>A	gnomAD
HECTD1	Q9ULT8	p.Arg1551Lys	rs772269848	missense variant	-	NC_000014.9:g.31128719C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1556Val	rs545030319	missense variant	-	NC_000014.9:g.31128704G>A	1000Genomes
HECTD1	Q9ULT8	p.Arg1557Trp	rs779029675	missense variant	-	NC_000014.9:g.31128702G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1561Met	rs576724470	missense variant	-	NC_000014.9:g.31128689G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1574His	rs200510869	missense variant	-	NC_000014.9:g.31128651T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1575Ser	rs1406389632	missense variant	-	NC_000014.9:g.31128647G>C	TOPMed
HECTD1	Q9ULT8	p.Asn1576Asp	rs758051610	missense variant	-	NC_000014.9:g.31128645T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1576Ser	rs1318116922	missense variant	-	NC_000014.9:g.31128644T>C	TOPMed
HECTD1	Q9ULT8	p.Thr1587Ala	rs749947099	missense variant	-	NC_000014.9:g.31128612T>C	ExAC
HECTD1	Q9ULT8	p.Thr1587Ile	rs1012937687	missense variant	-	NC_000014.9:g.31128006G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1588Ala	rs1229008829	missense variant	-	NC_000014.9:g.31128004A>C	TOPMed
HECTD1	Q9ULT8	p.Ser1588Tyr	rs1307512025	missense variant	-	NC_000014.9:g.31128003G>T	gnomAD
HECTD1	Q9ULT8	p.Ala1593Ser	rs768715036	missense variant	-	NC_000014.9:g.31127989C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1594Arg	rs1264603923	missense variant	-	NC_000014.9:g.31127985T>C	TOPMed
HECTD1	Q9ULT8	p.Asn1598Asp	rs746854990	missense variant	-	NC_000014.9:g.31127974T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1601Ala	rs758024349	missense variant	-	NC_000014.9:g.31127965T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1601Ile	rs1463408155	missense variant	-	NC_000014.9:g.31127964G>A	TOPMed
HECTD1	Q9ULT8	p.Pro1602Ala	rs750119816	missense variant	-	NC_000014.9:g.31127962G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1603Asp	rs1295737931	missense variant	-	NC_000014.9:g.31127958C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1603Val	rs1295737931	missense variant	-	NC_000014.9:g.31127958C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1604Ala	rs778379153	missense variant	-	NC_000014.9:g.31127956T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1605Ala	rs756772426	missense variant	-	NC_000014.9:g.31127953T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1607Pro	rs755444106	missense variant	-	NC_000014.9:g.31127947T>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1607Ala	rs755444106	missense variant	-	NC_000014.9:g.31127947T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1610Leu	rs370727683	missense variant	-	NC_000014.9:g.31127938T>G	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met1610Val	rs370727683	missense variant	-	NC_000014.9:g.31127938T>C	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1613Cys	rs560262326	missense variant	-	NC_000014.9:g.31127928G>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1615Ile	rs756591245	missense variant	-	NC_000014.9:g.31127923C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1616Ala	rs1377204468	missense variant	-	NC_000014.9:g.31127920T>C	TOPMed
HECTD1	Q9ULT8	p.Ser1617Gly	rs1218864201	missense variant	-	NC_000014.9:g.31127917T>C	gnomAD
HECTD1	Q9ULT8	p.Ser1619Ile	rs753043488	missense variant	-	NC_000014.9:g.31127910C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1620Ser	rs79845028	missense variant	-	NC_000014.9:g.31127907T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1620Asp	rs767957790	missense variant	-	NC_000014.9:g.31127908T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1621Ala	rs766447879	missense variant	-	NC_000014.9:g.31127904A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1623Ile	rs763195575	missense variant	-	NC_000014.9:g.31127898G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1625Pro	rs1275823372	missense variant	-	NC_000014.9:g.31127893T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1626Ala	rs752035560	missense variant	-	NC_000014.9:g.31127890T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1627Asp	rs1457078143	missense variant	-	NC_000014.9:g.31127886A>T	TOPMed
HECTD1	Q9ULT8	p.Val1630Phe	rs373851698	missense variant	-	NC_000014.9:g.31127878C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1631Ser	rs1293480157	missense variant	-	NC_000014.9:g.31127875C>T	gnomAD
HECTD1	Q9ULT8	p.Gln1632Arg	rs1351989476	missense variant	-	NC_000014.9:g.31127871T>C	gnomAD
HECTD1	Q9ULT8	p.Gln1632Lys	rs1456803504	missense variant	-	NC_000014.9:g.31127872G>T	gnomAD
HECTD1	Q9ULT8	p.Asn1636Asp	rs947856558	missense variant	-	NC_000014.9:g.31127860T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1636His	rs947856558	missense variant	-	NC_000014.9:g.31127860T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1637Ala	rs369491723	missense variant	-	NC_000014.9:g.31127857T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1645Pro	rs377130302	missense variant	-	NC_000014.9:g.31127833T>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1645Ile	rs756897529	missense variant	-	NC_000014.9:g.31127832G>A	ExAC
HECTD1	Q9ULT8	p.Glu1648Asp	rs999670209	missense variant	-	NC_000014.9:g.31127822C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp1650Glu	rs1284838163	missense variant	-	NC_000014.9:g.31127816G>T	TOPMed
HECTD1	Q9ULT8	p.Arg1667Cys	rs1419084398	missense variant	-	NC_000014.9:g.31123030G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1667His	rs371260055	missense variant	-	NC_000014.9:g.31123029C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1670Ser	rs1319870286	missense variant	-	NC_000014.9:g.31123020G>C	gnomAD
HECTD1	Q9ULT8	p.Leu1671Val	rs1470375472	missense variant	-	NC_000014.9:g.31123018G>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1674Gly	rs1185005076	missense variant	-	NC_000014.9:g.31123008T>C	gnomAD
HECTD1	Q9ULT8	p.Asp1676Tyr	rs751999921	missense variant	-	NC_000014.9:g.31123003C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1676Asn	rs751999921	missense variant	-	NC_000014.9:g.31123003C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1682His	rs758800109	missense variant	-	NC_000014.9:g.31122984G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1684Ser	rs750699847	missense variant	-	NC_000014.9:g.31122979G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1686Gln	rs765499753	missense variant	-	NC_000014.9:g.31122973C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1687Asp	rs374874773	missense variant	-	NC_000014.9:g.31122968T>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp1688Glu	rs759369572	missense variant	-	NC_000014.9:g.31122965A>T	ExAC
HECTD1	Q9ULT8	p.Asp1688Gly	rs767550410	missense variant	-	NC_000014.9:g.31122966T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1689Glu	rs774231157	missense variant	-	NC_000014.9:g.31122962A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1696Pro	rs543564118	missense variant	-	NC_000014.9:g.31122942T>G	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1699His	rs772854185	missense variant	-	NC_000014.9:g.31122932T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met1705Thr	rs747748452	missense variant	-	NC_000014.9:g.31122915A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1709Leu	rs751510416	missense variant	-	NC_000014.9:g.31121495C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1709His	rs751510416	missense variant	-	NC_000014.9:g.31121495C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1710Ala	rs766236694	missense variant	-	NC_000014.9:g.31121493G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1710Thr	rs766236694	missense variant	-	NC_000014.9:g.31121493G>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln1713His	rs185437379	missense variant	-	NC_000014.9:g.31121482T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1714Cys	rs1202696473	missense variant	-	NC_000014.9:g.31121481G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1714His	rs370774239	missense variant	-	NC_000014.9:g.31121480C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1715Ter	rs776310462	stop gained	-	NC_000014.9:g.31121478G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1715Pro	rs369487877	missense variant	-	NC_000014.9:g.31121477C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1715Gln	rs369487877	missense variant	-	NC_000014.9:g.31121477C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1716Thr	rs539325099	missense variant	-	NC_000014.9:g.31121475C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1719Cys	rs1301137243	missense variant	-	NC_000014.9:g.31121466G>A	gnomAD
HECTD1	Q9ULT8	p.Arg1719His	rs1442954371	missense variant	-	NC_000014.9:g.31121465C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1720Cys	rs776147746	missense variant	-	NC_000014.9:g.31121462G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1720Phe	rs776147746	missense variant	-	NC_000014.9:g.31121462G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp1721Gly	rs1330352440	missense variant	-	NC_000014.9:g.31121459T>C	gnomAD
HECTD1	Q9ULT8	p.Thr1723Met	rs746293283	missense variant	-	NC_000014.9:g.31121453G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His1724Arg	rs1236293019	missense variant	-	NC_000014.9:g.31121450T>C	gnomAD
HECTD1	Q9ULT8	p.His1725Arg	rs779400024	missense variant	-	NC_000014.9:g.31121447T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.His1725Pro	rs779400024	missense variant	-	NC_000014.9:g.31121447T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1729Leu	rs754633025	missense variant	-	NC_000014.9:g.31121435G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1730Arg	rs1380093858	missense variant	-	NC_000014.9:g.31121432T>C	gnomAD
HECTD1	Q9ULT8	p.Val1734Ile	rs1481780562	missense variant	-	NC_000014.9:g.31121421C>T	gnomAD
HECTD1	Q9ULT8	p.Ala1736Thr	rs752768278	missense variant	-	NC_000014.9:g.31121415C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1738Glu	rs766359449	missense variant	-	NC_000014.9:g.31121408G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1739Glu	rs377640342	missense variant	-	NC_000014.9:g.31121405C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1741Gln	rs765959865	missense variant	-	NC_000014.9:g.31121399C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1741Leu	rs765959865	missense variant	-	NC_000014.9:g.31121399C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1743Thr	rs201612618	missense variant	-	NC_000014.9:g.31121393A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1743Phe	rs571876830	missense variant	-	NC_000014.9:g.31121394T>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1743Val	rs571876830	missense variant	-	NC_000014.9:g.31121394T>C	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1743Leu	rs571876830	missense variant	-	NC_000014.9:g.31121394T>G	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1745Gln	rs760329878	missense variant	-	NC_000014.9:g.31121388C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1749Gly	rs1346166478	missense variant	-	NC_000014.9:g.31119859T>C	gnomAD
HECTD1	Q9ULT8	p.Glu1752Lys	rs1188805106	missense variant	-	NC_000014.9:g.31119851C>T	gnomAD
HECTD1	Q9ULT8	p.Thr1753Ala	rs1246490387	missense variant	-	NC_000014.9:g.31119848T>C	TOPMed
HECTD1	Q9ULT8	p.Lys1754Arg	rs763714471	missense variant	-	NC_000014.9:g.31119844T>C	ExAC
HECTD1	Q9ULT8	p.Gly1756Glu	rs550989302	missense variant	-	NC_000014.9:g.31119838C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1757His	rs1261151410	missense variant	-	NC_000014.9:g.31119835C>T	gnomAD
HECTD1	Q9ULT8	p.Arg1757Cys	rs767167801	missense variant	-	NC_000014.9:g.31119836G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1758Trp	rs775674085	missense variant	-	NC_000014.9:g.31119833G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1758Gln	rs368911080	missense variant	-	NC_000014.9:g.31119832C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp1762Gly	rs771464276	missense variant	-	NC_000014.9:g.31119820T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr1765Phe	rs763283377	missense variant	-	NC_000014.9:g.31119811T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1766Leu	rs1292741347	missense variant	-	NC_000014.9:g.31119809C>A	gnomAD
HECTD1	Q9ULT8	p.Leu1767Arg	rs945939580	missense variant	-	NC_000014.9:g.31119805A>C	TOPMed
HECTD1	Q9ULT8	p.Lys1768Arg	rs1293348086	missense variant	-	NC_000014.9:g.31119802T>C	gnomAD
HECTD1	Q9ULT8	p.Gln1770Arg	rs770040342	missense variant	-	NC_000014.9:g.31119796T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1770Leu	rs770040342	missense variant	-	NC_000014.9:g.31119796T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1774Ser	rs988270281	missense variant	-	NC_000014.9:g.31119784A>G	TOPMed
HECTD1	Q9ULT8	p.Val1775Ile	rs374797182	missense variant	-	NC_000014.9:g.31119782C>T	ESP,ExAC,TOPMed
HECTD1	Q9ULT8	p.Pro1776Arg	rs1361447512	missense variant	-	NC_000014.9:g.31119778G>C	gnomAD
HECTD1	Q9ULT8	p.Ala1777Val	rs747046399	missense variant	-	NC_000014.9:g.31119775G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1784His	rs757207097	missense variant	-	NC_000014.9:g.31119754C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1785Ser	rs1441329585	missense variant	-	NC_000014.9:g.31119751G>C	gnomAD
HECTD1	Q9ULT8	p.Thr1785Ala	rs1399242201	missense variant	-	NC_000014.9:g.31119752T>C	TOPMed
HECTD1	Q9ULT8	p.Gln1788Pro	rs1172603022	missense variant	-	NC_000014.9:g.31119742T>G	gnomAD
HECTD1	Q9ULT8	p.Thr1791Ala	rs753626442	missense variant	-	NC_000014.9:g.31119734T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1791Ile	rs777593934	missense variant	-	NC_000014.9:g.31119733G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1793Ile	rs1381649613	missense variant	-	NC_000014.9:g.31119728G>T	TOPMed
HECTD1	Q9ULT8	p.Pro1796Ser	rs755932717	missense variant	-	NC_000014.9:g.31119719G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1796Thr	rs755932717	missense variant	-	NC_000014.9:g.31119719G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1797Thr	rs1254608115	missense variant	-	NC_000014.9:g.31119716G>T	gnomAD
HECTD1	Q9ULT8	p.Pro1798Leu	rs1452854567	missense variant	-	NC_000014.9:g.31119712G>A	TOPMed
HECTD1	Q9ULT8	p.Thr1800Ser	rs1252578961	missense variant	-	NC_000014.9:g.31116455G>C	TOPMed
HECTD1	Q9ULT8	p.Pro1801Ser	rs762316556	missense variant	-	NC_000014.9:g.31116453G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1801Leu	rs371856031	missense variant	-	NC_000014.9:g.31116452G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His1802Pro	rs1418855304	missense variant	-	NC_000014.9:g.31116449T>G	TOPMed
HECTD1	Q9ULT8	p.Leu1805Ile	rs143401795	missense variant	-	NC_000014.9:g.31116441G>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu1805Phe	rs143401795	missense variant	-	NC_000014.9:g.31116441G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1807Gly	rs762236240	missense variant	-	NC_000014.9:g.31116434T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1808Val	rs1377195624	missense variant	-	NC_000014.9:g.31116431T>A	gnomAD
HECTD1	Q9ULT8	p.Glu1808Asp	rs1172991793	missense variant	-	NC_000014.9:g.31116430T>G	gnomAD
HECTD1	Q9ULT8	p.Glu1810Lys	rs1361802612	missense variant	-	NC_000014.9:g.31116426C>T	gnomAD
HECTD1	Q9ULT8	p.Glu1810Val	rs1183537408	missense variant	-	NC_000014.9:g.31116425T>A	gnomAD
HECTD1	Q9ULT8	p.Cys1811Ser	rs764349966	missense variant	-	NC_000014.9:g.31116422C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Cys1811Tyr	rs764349966	missense variant	-	NC_000014.9:g.31116422C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1812Ile	rs760922784	missense variant	-	NC_000014.9:g.31116419G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1813Leu	rs547778199	missense variant	-	NC_000014.9:g.31116416G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1818Thr	rs1349024338	missense variant	-	NC_000014.9:g.31116402C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1818Val	rs201177803	missense variant	-	NC_000014.9:g.31116401G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu1819Phe	rs1240050334	missense variant	-	NC_000014.9:g.31116399G>A	gnomAD
HECTD1	Q9ULT8	p.Thr1820Ser	rs920879633	missense variant	-	NC_000014.9:g.31116395G>C	TOPMed
HECTD1	Q9ULT8	p.Val1823Ile	rs769839072	missense variant	-	NC_000014.9:g.31116387C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1824Ile	rs1306775454	missense variant	-	NC_000014.9:g.31116383G>A	TOPMed
HECTD1	Q9ULT8	p.Thr1828Met	rs201841460	missense variant	-	NC_000014.9:g.31116371G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1830Cys	rs367653309	missense variant	-	NC_000014.9:g.31116366G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1830His	rs1258259216	missense variant	-	NC_000014.9:g.31116365C>T	TOPMed
HECTD1	Q9ULT8	p.Val1832Ile	rs558514626	missense variant	-	NC_000014.9:g.31116360C>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1833Val	rs1358437121	missense variant	-	NC_000014.9:g.31116356T>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro1835Thr	rs1158079701	missense variant	-	NC_000014.9:g.31116351G>T	gnomAD
HECTD1	Q9ULT8	p.Leu1836Phe	rs1172913376	missense variant	-	NC_000014.9:g.31116348G>A	TOPMed
HECTD1	Q9ULT8	p.Thr1837Ile	rs749934681	missense variant	-	NC_000014.9:g.31116344G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1837Asn	rs749934681	missense variant	-	NC_000014.9:g.31116344G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1838Asp	rs1416672366	missense variant	-	NC_000014.9:g.31116342T>C	gnomAD
HECTD1	Q9ULT8	p.Phe1839Cys	rs1185226874	missense variant	-	NC_000014.9:g.31116338A>C	gnomAD
HECTD1	Q9ULT8	p.Ser1841Ter	rs1357929450	stop gained	-	NC_000014.9:g.31116332G>T	TOPMed
HECTD1	Q9ULT8	p.Ile1843Val	rs200069531	missense variant	-	NC_000014.9:g.31116327T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr1845His	rs754243031	missense variant	-	NC_000014.9:g.31116321A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr1846His	rs764552977	missense variant	-	NC_000014.9:g.31116318A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr1846Cys	rs536602982	missense variant	-	NC_000014.9:g.31116317T>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys1849Gln	rs1311766686	missense variant	-	NC_000014.9:g.31116309T>G	TOPMed
HECTD1	Q9ULT8	p.Leu1850Trp	rs569672320	missense variant	-	NC_000014.9:g.31116305A>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu1851Phe	rs759720390	missense variant	-	NC_000014.9:g.31116303G>A	ExAC
HECTD1	Q9ULT8	p.Asn1858Ser	rs774548815	missense variant	-	NC_000014.9:g.31116281T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val1859Ala	rs748124591	missense variant	-	NC_000014.9:g.31116278A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1865Thr	rs776658432	missense variant	-	NC_000014.9:g.31116260C>G	ExAC
HECTD1	Q9ULT8	p.Arg1866His	rs746711648	missense variant	-	NC_000014.9:g.31116257C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1866Cys	rs202075322	missense variant	-	NC_000014.9:g.31116258G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Trp1868Arg	rs1393397121	missense variant	-	NC_000014.9:g.31116252A>G	gnomAD
HECTD1	Q9ULT8	p.Pro1870Ser	rs779827286	missense variant	-	NC_000014.9:g.31116246G>A	ExAC
HECTD1	Q9ULT8	p.Thr1873Lys	rs778364529	missense variant	-	NC_000014.9:g.31116236G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1873Ile	rs778364529	missense variant	-	NC_000014.9:g.31116236G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met1875Ile	rs768477551	missense variant	-	NC_000014.9:g.31114334C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met1875Thr	rs776710862	missense variant	-	NC_000014.9:g.31114335A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1877Gly	rs760580603	missense variant	-	NC_000014.9:g.31114330T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1877Ser	rs1407696068	missense variant	-	NC_000014.9:g.31114328T>A	gnomAD
HECTD1	Q9ULT8	p.Met1879Ile	rs1420974122	missense variant	-	NC_000014.9:g.31114322C>T	gnomAD
HECTD1	Q9ULT8	p.Met1879Val	rs1425923991	missense variant	-	NC_000014.9:g.31114324T>C	TOPMed
HECTD1	Q9ULT8	p.Lys1880Met	rs370692797	missense variant	-	NC_000014.9:g.31114320T>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1885Ala	rs373364026	missense variant	-	NC_000014.9:g.31114305T>G	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu1885Lys	rs61976859	missense variant	-	NC_000014.9:g.31114306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1889Glu	rs1488951528	missense variant	-	NC_000014.9:g.31114293C>T	gnomAD
HECTD1	Q9ULT8	p.Gly1892Cys	rs764146288	missense variant	-	NC_000014.9:g.31114059C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1892Ala	rs1302254350	missense variant	-	NC_000014.9:g.31114058C>G	TOPMed
HECTD1	Q9ULT8	p.Ile1896Val	rs760501818	missense variant	-	NC_000014.9:g.31114047T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1896Thr	rs775461833	missense variant	-	NC_000014.9:g.31114046A>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu1897Asp	rs1485328261	missense variant	-	NC_000014.9:g.31114042C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.His1898Arg	rs1005292372	missense variant	-	NC_000014.9:g.31114040T>C	TOPMed
HECTD1	Q9ULT8	p.Leu1903Val	rs1278079265	missense variant	-	NC_000014.9:g.31114026G>C	gnomAD
HECTD1	Q9ULT8	p.Asp1906Gly	rs1312558302	missense variant	-	NC_000014.9:g.31114016T>C	gnomAD
HECTD1	Q9ULT8	p.Asp1912Tyr	rs773998104	missense variant	-	NC_000014.9:g.31113999C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1912Asn	rs773998104	missense variant	-	NC_000014.9:g.31113999C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile1914Val	rs1465602726	missense variant	-	NC_000014.9:g.31113993T>C	TOPMed
HECTD1	Q9ULT8	p.Thr1915Ser	rs999819901	missense variant	-	NC_000014.9:g.31113989G>C	gnomAD
HECTD1	Q9ULT8	p.Gln1918Ter	rs770555933	stop gained	-	NC_000014.9:g.31113981G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala1923Thr	rs199501211	missense variant	-	NC_000014.9:g.31113966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1927His	rs1157359636	missense variant	-	NC_000014.9:g.31113953C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg1927Cys	rs569402971	missense variant	-	NC_000014.9:g.31113954G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His1928Arg	rs201422760	missense variant	-	NC_000014.9:g.31113950T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His1928Gln	rs1156468578	missense variant	-	NC_000014.9:g.31113949G>C	TOPMed
HECTD1	Q9ULT8	p.Ser1937Asn	rs758673675	missense variant	-	NC_000014.9:g.31113923C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1937Thr	rs758673675	missense variant	-	NC_000014.9:g.31113923C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile1938Val	rs750560486	missense variant	-	NC_000014.9:g.31113921T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1941Ser	rs765267189	missense variant	-	NC_000014.9:g.31113911T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg1942Lys	rs904340526	missense variant	-	NC_000014.9:g.31113908C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Cys1944Phe	rs752589825	missense variant	-	NC_000014.9:g.31113902C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.His1957Gln	rs1396918524	missense variant	-	NC_000014.9:g.31113470A>C	gnomAD
HECTD1	Q9ULT8	p.Thr1959Ile	rs562158110	missense variant	-	NC_000014.9:g.31113465G>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys1960Glu	rs1461563701	missense variant	-	NC_000014.9:g.31113463T>C	gnomAD
HECTD1	Q9ULT8	p.Ser1961Ala	rs1371364897	missense variant	-	NC_000014.9:g.31113460A>C	gnomAD
HECTD1	Q9ULT8	p.Asn1964Lys	rs1171051644	missense variant	-	NC_000014.9:g.31113449G>T	TOPMed
HECTD1	Q9ULT8	p.Gln1965His	rs1451190682	missense variant	-	NC_000014.9:g.31113446C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln1965Arg	rs1168238787	missense variant	-	NC_000014.9:g.31113447T>C	gnomAD
HECTD1	Q9ULT8	p.Gly1966Arg	rs751459067	missense variant	-	NC_000014.9:g.31113445C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly1966Glu	rs1192770894	missense variant	-	NC_000014.9:g.31113444C>T	gnomAD
HECTD1	Q9ULT8	p.Thr1970Ile	rs1452232186	missense variant	-	NC_000014.9:g.31113432G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu1971Phe	rs766183572	missense variant	-	NC_000014.9:g.31113430G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser1973Asn	rs762748615	missense variant	-	NC_000014.9:g.31113423C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp1975Gly	rs930122499	missense variant	-	NC_000014.9:g.31113417T>C	TOPMed
HECTD1	Q9ULT8	p.Ile1976Val	rs918361032	missense variant	-	NC_000014.9:g.31113415T>C	TOPMed
HECTD1	Q9ULT8	p.Leu1977Val	rs772740373	missense variant	-	NC_000014.9:g.31113412G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1978His	rs764935981	missense variant	-	NC_000014.9:g.31113409T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr1980Ile	rs367742562	missense variant	-	NC_000014.9:g.31113402G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr1980Ala	rs761284384	missense variant	-	NC_000014.9:g.31113403T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro1984Ser	rs985525961	missense variant	-	NC_000014.9:g.31113391G>A	TOPMed
HECTD1	Q9ULT8	p.Ala1986Ser	rs370850256	missense variant	-	NC_000014.9:g.31113385C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala1986Val	rs776094793	missense variant	-	NC_000014.9:g.31113384G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn1990Ser	rs376711430	missense variant	-	NC_000014.9:g.31113372T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asn1990Ile	rs376711430	missense variant	-	NC_000014.9:g.31113372T>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly1991Glu	rs746177248	missense variant	-	NC_000014.9:g.31113369C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln1992Arg	rs200609915	missense variant	-	NC_000014.9:g.31113366T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser1994Phe	rs371010804	missense variant	-	NC_000014.9:g.31113360G>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Val1997Leu	rs1379115787	missense variant	-	NC_000014.9:g.31113352C>G	gnomAD
HECTD1	Q9ULT8	p.Arg2005His	rs756137642	missense variant	-	NC_000014.9:g.31113327C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2005Cys	rs201210477	missense variant	-	NC_000014.9:g.31113328G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2007Val	rs751510524	missense variant	-	NC_000014.9:g.31113322G>C	ExAC
HECTD1	Q9ULT8	p.Tyr2008Cys	rs758190151	missense variant	-	NC_000014.9:g.31113318T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2009Leu	rs183119059	missense variant	-	NC_000014.9:g.31113316T>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Val2010Ala	rs1347584814	missense variant	-	NC_000014.9:g.31113312A>G	gnomAD
HECTD1	Q9ULT8	p.Ala2011Ser	rs368837991	missense variant	-	NC_000014.9:g.31113310C>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala2011Thr	rs368837991	missense variant	-	NC_000014.9:g.31113310C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2012Gly	rs377055705	missense variant	-	NC_000014.9:g.31113307T>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2014Arg	rs753504194	missense variant	-	NC_000014.9:g.31113300G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2016Ala	rs1290337697	missense variant	-	NC_000014.9:g.31113295A>C	gnomAD
HECTD1	Q9ULT8	p.Ile2018Met	rs763724166	missense variant	-	NC_000014.9:g.31113287T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln2020Leu	rs1354851610	missense variant	-	NC_000014.9:g.31113282T>A	gnomAD
HECTD1	Q9ULT8	p.Gly2023Asp	rs748217626	missense variant	-	NC_000014.9:g.31113186C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly2023Val	rs748217626	missense variant	-	NC_000014.9:g.31113186C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2024Gly	rs779911615	missense variant	-	NC_000014.9:g.31113183T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2025Gly	rs758331578	missense variant	-	NC_000014.9:g.31113180T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2027Arg	rs1315794	missense variant	-	NC_000014.9:g.31113174G>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2027Pro	rs1315794	missense variant	-	NC_000014.9:g.31113174G>C	UniProt,dbSNP
HECTD1	Q9ULT8	p.Leu2027Pro	VAR_067707	missense variant	-	NC_000014.9:g.31113174G>C	UniProt
HECTD1	Q9ULT8	p.Pro2027Leu	rs1315794	missense variant	-	NC_000014.9:g.31113174G>A	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2027Pro	VAR_067707	Missense	-	-	UniProt
HECTD1	Q9ULT8	p.Gln2028Glu	rs778802763	missense variant	-	NC_000014.9:g.31113172G>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln2028Arg	rs1201934540	missense variant	-	NC_000014.9:g.31113171T>C	TOPMed
HECTD1	Q9ULT8	p.Pro2032Leu	rs756958009	missense variant	-	NC_000014.9:g.31113159G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2034Gly	rs1160929159	missense variant	-	NC_000014.9:g.31113153T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr2037Ile	rs763773425	missense variant	-	NC_000014.9:g.31113144G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2045Val	rs1369531764	missense variant	-	NC_000014.9:g.31113121T>C	gnomAD
HECTD1	Q9ULT8	p.Gln2048Ter	rs760327911	stop gained	-	NC_000014.9:g.31113112G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2049Thr	rs1371986394	missense variant	-	NC_000014.9:g.31113108A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2052Ser	rs1452288299	missense variant	-	NC_000014.9:g.31112540G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2052Gln	rs1272319871	missense variant	-	NC_000014.9:g.31112539G>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2055Val	rs574897803	missense variant	-	NC_000014.9:g.31112531G>C	1000Genomes
HECTD1	Q9ULT8	p.Ser2057Asn	rs755807387	missense variant	-	NC_000014.9:g.31112524C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2067Ile	rs377187618	missense variant	-	NC_000014.9:g.31112495A>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe2073Leu	rs1224105887	missense variant	-	NC_000014.9:g.31112475A>C	gnomAD
HECTD1	Q9ULT8	p.Ile2075Thr	rs1349981451	missense variant	-	NC_000014.9:g.31112470A>G	gnomAD
HECTD1	Q9ULT8	p.Phe2077Leu	rs773540655	missense variant	-	NC_000014.9:g.31112465A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2078Lys	rs765481555	missense variant	-	NC_000014.9:g.31112462C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr2079Ser	rs776671501	missense variant	-	NC_000014.9:g.31112458G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr2079Ala	rs762056004	missense variant	-	NC_000014.9:g.31112459T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln2081Lys	rs768798124	missense variant	-	NC_000014.9:g.31112453G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys2086Arg	rs367624417	missense variant	-	NC_000014.9:g.31112438A>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ala2091Thr	rs749145586	missense variant	-	NC_000014.9:g.31112423C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2095Val	rs764222422	missense variant	-	NC_000014.9:g.31109594T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Trp2097Arg	rs1440609351	missense variant	-	NC_000014.9:g.31109588A>G	TOPMed
HECTD1	Q9ULT8	p.Arg2101Ter	rs978402707	stop gained	-	NC_000014.9:g.31109576G>A	TOPMed
HECTD1	Q9ULT8	p.Arg2101Gln	rs775411264	missense variant	-	NC_000014.9:g.31109575C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2102Cys	rs368372102	missense variant	-	NC_000014.9:g.31109573G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2102His	rs749271615	missense variant	-	NC_000014.9:g.31109572C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2103Gly	rs773224017	missense variant	-	NC_000014.9:g.31109569T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2106Leu	rs769714931	missense variant	-	NC_000014.9:g.31109561C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2108Ter	rs1458971793	stop gained	-	NC_000014.9:g.31109555G>A	gnomAD
HECTD1	Q9ULT8	p.Thr2109Met	rs1412854674	missense variant	-	NC_000014.9:g.31109551G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr2112Ile	rs1423238381	missense variant	-	NC_000014.9:g.31109542G>A	gnomAD
HECTD1	Q9ULT8	p.Ser2113Thr	rs768168750	missense variant	-	NC_000014.9:g.31109539C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser2114Thr	rs1183462170	missense variant	-	NC_000014.9:g.31109536C>G	gnomAD
HECTD1	Q9ULT8	p.Val2115Gly	rs199747097	missense variant	-	NC_000014.9:g.31109533A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2117Gln	rs779568465	missense variant	-	NC_000014.9:g.31109527C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2118Asn	rs1268288683	missense variant	-	NC_000014.9:g.31109525C>T	gnomAD
HECTD1	Q9ULT8	p.Asp2119Asn	rs371125720	missense variant	-	NC_000014.9:g.31109522C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2120Ser	rs1257517134	missense variant	-	NC_000014.9:g.31109519G>A	TOPMed
HECTD1	Q9ULT8	p.Phe2123Leu	rs1229351405	missense variant	-	NC_000014.9:g.31109508A>T	gnomAD
HECTD1	Q9ULT8	p.Arg2124Gln	rs376151633	missense variant	-	NC_000014.9:g.31109506C>T	ESP,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2125Leu	rs373214965	missense variant	-	NC_000014.9:g.31109504C>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2125Ile	rs373214965	missense variant	-	NC_000014.9:g.31109504C>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2127Cys	rs1182846844	missense variant	-	NC_000014.9:g.31109498G>A	TOPMed
HECTD1	Q9ULT8	p.Val2135Ala	rs754140005	missense variant	-	NC_000014.9:g.31109473A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2136Leu	rs377110842	missense variant	-	NC_000014.9:g.31109470G>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2139Lys	rs867585800	missense variant	-	NC_000014.9:g.31109462C>T	gnomAD
HECTD1	Q9ULT8	p.Met2142Arg	rs760778778	missense variant	-	NC_000014.9:g.31109452A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2147Ser	rs1186442795	missense variant	-	NC_000014.9:g.31109437T>C	gnomAD
HECTD1	Q9ULT8	p.Met2149Leu	rs149608356	missense variant	-	NC_000014.9:g.31109432T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2149Leu	rs149608356	missense variant	-	NC_000014.9:g.31109432T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2149Val	rs149608356	missense variant	-	NC_000014.9:g.31109432T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gln2150Arg	rs1487523398	missense variant	-	NC_000014.9:g.31109428T>C	gnomAD
HECTD1	Q9ULT8	p.Ile2151Met	rs1248274772	missense variant	-	NC_000014.9:g.31109424T>C	gnomAD
HECTD1	Q9ULT8	p.Asp2154His	rs1266642927	missense variant	-	NC_000014.9:g.31109417C>G	gnomAD
HECTD1	Q9ULT8	p.Arg2155Gln	rs773349079	missense variant	-	NC_000014.9:g.31109413C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2160Gln	rs761713038	missense variant	-	NC_000014.9:g.31109399C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr2174Ala	rs1362884918	missense variant	-	NC_000014.9:g.31107665T>C	gnomAD
HECTD1	Q9ULT8	p.Tyr2178Cys	rs1231392317	missense variant	-	NC_000014.9:g.31107652T>C	gnomAD
HECTD1	Q9ULT8	p.Glu2184Gly	rs949226220	missense variant	-	NC_000014.9:g.31107634T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2197Gly	rs1409301084	missense variant	-	NC_000014.9:g.31107595T>C	gnomAD
HECTD1	Q9ULT8	p.Asn2198Asp	rs759747608	missense variant	-	NC_000014.9:g.31107593T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp2202Glu	rs765255463	missense variant	-	NC_000014.9:g.31107579A>T	ExAC
HECTD1	Q9ULT8	p.Arg2205His	rs776580004	missense variant	-	NC_000014.9:g.31107571C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2205Leu	rs776580004	missense variant	-	NC_000014.9:g.31107571C>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.His2206Gln	rs760454073	missense variant	-	NC_000014.9:g.31107567G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2213Met	rs555586603	missense variant	-	NC_000014.9:g.31107235A>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2215Leu	rs1160742226	missense variant	-	NC_000014.9:g.31107228G>A	gnomAD
HECTD1	Q9ULT8	p.Pro2216Ser	rs1473239142	missense variant	-	NC_000014.9:g.31107226G>A	gnomAD
HECTD1	Q9ULT8	p.Tyr2218Asp	rs374926613	missense variant	-	NC_000014.9:g.31107220A>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2226Val	rs1256535651	missense variant	-	NC_000014.9:g.31107196G>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Phe2227Leu	rs1270165072	missense variant	-	NC_000014.9:g.31107191G>C	gnomAD
HECTD1	Q9ULT8	p.Phe2231Leu	rs566773532	missense variant	-	NC_000014.9:g.31107181A>G	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln2233Arg	rs1355656329	missense variant	-	NC_000014.9:g.31107174T>C	gnomAD
HECTD1	Q9ULT8	p.Asp2234Glu	rs183440070	missense variant	-	NC_000014.9:g.31107170A>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2237Ter	rs770309354	stop gained	-	NC_000014.9:g.31107163C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2237Lys	rs770309354	missense variant	-	NC_000014.9:g.31107163C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2240Lys	rs748563826	missense variant	-	NC_000014.9:g.31107153C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2241Leu	rs1315441491	missense variant	-	NC_000014.9:g.31107151T>G	gnomAD
HECTD1	Q9ULT8	p.Thr2242Met	rs781713220	missense variant	-	NC_000014.9:g.31107147G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2244Gln	rs747245700	missense variant	-	NC_000014.9:g.31107141A>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.His2246Asp	rs1167819535	missense variant	-	NC_000014.9:g.31107136G>C	TOPMed
HECTD1	Q9ULT8	p.Ile2250Thr	rs1353738396	missense variant	-	NC_000014.9:g.31107123A>G	TOPMed
HECTD1	Q9ULT8	p.Leu2252Met	rs368302820	missense variant	-	NC_000014.9:g.31107118A>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Lys2254Asn	rs1386291117	missense variant	-	NC_000014.9:g.31107110T>A	gnomAD
HECTD1	Q9ULT8	p.Lys2254Arg	rs758476628	missense variant	-	NC_000014.9:g.31107111T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2259Ser	rs750503446	missense variant	-	NC_000014.9:g.31107096T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Met2274Thr	rs1250146534	missense variant	-	NC_000014.9:g.31107051A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2274Ile	rs1189376938	missense variant	-	NC_000014.9:g.31107050C>T	gnomAD
HECTD1	Q9ULT8	p.Met2276Val	rs1353547619	missense variant	-	NC_000014.9:g.31107046T>C	TOPMed
HECTD1	Q9ULT8	p.Gly2277Ser	rs1414085350	missense variant	-	NC_000014.9:g.31107043C>T	TOPMed
HECTD1	Q9ULT8	p.Asp2278Asn	rs1342013633	missense variant	-	NC_000014.9:g.31107040C>T	gnomAD
HECTD1	Q9ULT8	p.Ile2279Ser	rs909609152	missense variant	-	NC_000014.9:g.31107036A>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2279Val	rs763987136	missense variant	-	NC_000014.9:g.31107037T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2282Ser	rs1358377776	missense variant	-	NC_000014.9:g.31107027T>C	gnomAD
HECTD1	Q9ULT8	p.Met2283Arg	rs1292305778	missense variant	-	NC_000014.9:g.31107024A>C	gnomAD
HECTD1	Q9ULT8	p.Ser2284Asn	rs756018881	missense variant	-	NC_000014.9:g.31107021C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2284Arg	rs1382014349	missense variant	-	NC_000014.9:g.31107020A>C	gnomAD
HECTD1	Q9ULT8	p.Lys2285Glu	rs752594723	missense variant	-	NC_000014.9:g.31107019T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2287Val	rs1299405274	missense variant	-	NC_000014.9:g.31107013T>C	gnomAD
HECTD1	Q9ULT8	p.Ile2287Thr	rs767325037	missense variant	-	NC_000014.9:g.31107012A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2287Met	rs190455305	missense variant	-	NC_000014.9:g.31107011A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr2288Asn	rs766037823	missense variant	-	NC_000014.9:g.31107010A>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Tyr2288Phe	rs768379626	missense variant	-	NC_000014.9:g.31107009T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Tyr2288Cys	rs768379626	missense variant	-	NC_000014.9:g.31107009T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2289Lys	rs772743407	missense variant	-	NC_000014.9:g.31107007C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2291Gln	rs769387867	missense variant	-	NC_000014.9:g.31107000C>T	ExAC
HECTD1	Q9ULT8	p.His2297Arg	rs202003389	missense variant	-	NC_000014.9:g.31106982T>C	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys2298Arg	rs746653088	missense variant	-	NC_000014.9:g.31106980A>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser2301Gly	rs769144601	missense variant	-	NC_000014.9:g.31106971T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln2302His	rs747376160	missense variant	-	NC_000014.9:g.31106966C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2303Phe	rs1278629628	missense variant	-	NC_000014.9:g.31106964G>A	TOPMed
HECTD1	Q9ULT8	p.Thr2307Lys	rs1245126892	missense variant	-	NC_000014.9:g.31106952G>T	gnomAD
HECTD1	Q9ULT8	p.Glu2309Asp	rs757923063	missense variant	-	NC_000014.9:g.31106945T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2309Gly	rs779631192	missense variant	-	NC_000014.9:g.31106946T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly2310Arg	rs1034119651	missense variant	-	NC_000014.9:g.31106944C>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2315Leu	rs779085058	missense variant	-	NC_000014.9:g.31106928G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2322Val	rs371025781	missense variant	-	NC_000014.9:g.31106907T>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2326Lys	rs754822380	missense variant	-	NC_000014.9:g.31106896C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2336Ser	rs1001312621	missense variant	-	NC_000014.9:g.31106866G>A	TOPMed
HECTD1	Q9ULT8	p.Pro2336Leu	rs368701440	missense variant	-	NC_000014.9:g.31106865G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2336Arg	rs368701440	missense variant	-	NC_000014.9:g.31106865G>C	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2337Leu	rs564815113	missense variant	-	NC_000014.9:g.31106862G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2344Phe	rs1256585263	missense variant	-	NC_000014.9:g.31106840C>G	gnomAD
HECTD1	Q9ULT8	p.Glu2347Lys	rs1307991089	missense variant	-	NC_000014.9:g.31106833C>T	gnomAD
HECTD1	Q9ULT8	p.Val2352Ala	rs1205523477	missense variant	-	NC_000014.9:g.31106817A>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2354Ser	rs764851230	missense variant	-	NC_000014.9:g.31106812G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2356Thr	rs777346880	missense variant	-	NC_000014.9:g.31106805C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2356Gly	rs761338082	missense variant	-	NC_000014.9:g.31106806T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala2357Thr	rs1423344616	missense variant	-	NC_000014.9:g.31106803C>T	gnomAD
HECTD1	Q9ULT8	p.Glu2362Gln	rs1174468025	missense variant	-	NC_000014.9:g.31106788C>G	gnomAD
HECTD1	Q9ULT8	p.Ile2363Val	rs1480822725	missense variant	-	NC_000014.9:g.31106785T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2365Val	rs769273496	missense variant	-	NC_000014.9:g.31106778T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2368Val	rs760995887	missense variant	-	NC_000014.9:g.31106770T>C	ExAC
HECTD1	Q9ULT8	p.Lys2369Glu	rs1234460251	missense variant	-	NC_000014.9:g.31106767T>C	gnomAD
HECTD1	Q9ULT8	p.Lys2369Arg	rs772289440	missense variant	-	NC_000014.9:g.31106766T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2371Leu	rs771005504	missense variant	-	NC_000014.9:g.31106760C>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2371His	rs771005504	missense variant	-	NC_000014.9:g.31106760C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2371Cys	rs374624832	missense variant	-	NC_000014.9:g.31106761G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2374Ser	rs1319304506	missense variant	-	NC_000014.9:g.31106751A>G	gnomAD
HECTD1	Q9ULT8	p.Asn2376Asp	rs749354360	missense variant	-	NC_000014.9:g.31106746T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2376Ser	rs781153492	missense variant	-	NC_000014.9:g.31106745T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly2378Val	rs1052705745	missense variant	-	NC_000014.9:g.31106739C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly2378Asp	rs1052705745	missense variant	-	NC_000014.9:g.31106739C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2379Phe	rs779921443	missense variant	-	NC_000014.9:g.31106737G>A	ExAC
HECTD1	Q9ULT8	p.Ser2380Cys	rs758069777	missense variant	-	NC_000014.9:g.31106733G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2381Asp	rs1357744983	missense variant	-	NC_000014.9:g.31106729T>A	gnomAD
HECTD1	Q9ULT8	p.Val2392Glu	rs1465069503	missense variant	-	NC_000014.9:g.31106697A>T	TOPMed
HECTD1	Q9ULT8	p.Asn2395Ser	rs750093484	missense variant	-	NC_000014.9:g.31106688T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2396Ser	rs764975645	missense variant	-	NC_000014.9:g.31106686G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2396Thr	rs764975645	missense variant	-	NC_000014.9:g.31106686G>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2396Ala	rs764975645	missense variant	-	NC_000014.9:g.31106686G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Pro2396Gln	rs200409299	missense variant	-	NC_000014.9:g.31106685G>T	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Pro2396Leu	rs200409299	missense variant	-	NC_000014.9:g.31106685G>A	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Gly2398Val	rs1471601477	missense variant	-	NC_000014.9:g.31106679C>A	gnomAD
HECTD1	Q9ULT8	p.Ser2399Cys	rs1341486859	missense variant	-	NC_000014.9:g.31106676G>C	gnomAD
HECTD1	Q9ULT8	p.Ser2404Gly	rs373624502	missense variant	-	NC_000014.9:g.31106662T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2405Val	rs1472359837	missense variant	-	NC_000014.9:g.31106659T>C	gnomAD
HECTD1	Q9ULT8	p.Ser2417Phe	rs1300782583	missense variant	-	NC_000014.9:g.31105645G>A	gnomAD
HECTD1	Q9ULT8	p.Arg2419Lys	rs537769002	missense variant	-	NC_000014.9:g.31105639C>T	1000Genomes,ExAC,gnomAD
HECTD1	Q9ULT8	p.Phe2423Leu	rs77698356	missense variant	-	NC_000014.9:g.31105626A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Val2426Leu	rs1304908510	missense variant	-	NC_000014.9:g.31105619C>A	gnomAD
HECTD1	Q9ULT8	p.Asp2427Asn	rs377639423	missense variant	-	NC_000014.9:g.31105616C>T	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Leu2428Phe	rs1389355034	missense variant	-	NC_000014.9:g.31105613G>A	TOPMed
HECTD1	Q9ULT8	p.Ser2431Gly	rs1305951853	missense variant	-	NC_000014.9:g.31105604T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2437Val	rs1190280951	missense variant	-	NC_000014.9:g.31105473T>C	TOPMed
HECTD1	Q9ULT8	p.Met2439Val	rs752137954	missense variant	-	NC_000014.9:g.31105467T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asp2440Glu	rs756801071	missense variant	-	NC_000014.9:g.31105462A>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Val2446Met	rs1477670491	missense variant	-	NC_000014.9:g.31105446C>T	TOPMed
HECTD1	Q9ULT8	p.Asp2447Tyr	rs555304505	missense variant	-	NC_000014.9:g.31105443C>A	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Asp2447Asn	rs555304505	missense variant	-	NC_000014.9:g.31105443C>T	1000Genomes,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2449Ile	rs377428994	missense variant	-	NC_000014.9:g.31105435C>T	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Cys2453Tyr	rs763236550	missense variant	-	NC_000014.9:g.31105424C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.His2455Tyr	rs1021004563	missense variant	-	NC_000014.9:g.31105419G>A	gnomAD
HECTD1	Q9ULT8	p.Thr2456Met	rs750708787	missense variant	-	NC_000014.9:g.31105415G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ile2458Leu	rs1198988436	missense variant	-	NC_000014.9:g.31105410T>G	gnomAD
HECTD1	Q9ULT8	p.Gln2459Arg	rs1462822489	missense variant	-	NC_000014.9:g.31105406T>C	gnomAD
HECTD1	Q9ULT8	p.Asp2467Gly	rs761974972	missense variant	-	NC_000014.9:g.31103066T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Lys2471Asn	rs1361285097	missense variant	-	NC_000014.9:g.31103053T>G	gnomAD
HECTD1	Q9ULT8	p.Pro2474Leu	rs111683057	missense variant	-	NC_000014.9:g.31103045G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2475Val	rs1346408985	missense variant	-	NC_000014.9:g.31103043T>C	TOPMed
HECTD1	Q9ULT8	p.Glu2476Ala	rs764095323	missense variant	-	NC_000014.9:g.31103039T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.His2483Arg	rs369375532	missense variant	-	NC_000014.9:g.31103018T>C	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Gln2487His	rs374962546	missense variant	-	NC_000014.9:g.31103005T>G	ESP,ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2488Val	rs1305091476	missense variant	-	NC_000014.9:g.31103004T>C	TOPMed
HECTD1	Q9ULT8	p.Ile2489Met	rs772909298	missense variant	-	NC_000014.9:g.31102999A>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2489Val	rs762893405	missense variant	-	NC_000014.9:g.31103001T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala2499Pro	rs769580685	missense variant	-	NC_000014.9:g.31102971C>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ile2503Val	rs1451047557	missense variant	-	NC_000014.9:g.31102959T>C	gnomAD
HECTD1	Q9ULT8	p.Ile2504Thr	rs1266591510	missense variant	-	NC_000014.9:g.31102955A>G	gnomAD
HECTD1	Q9ULT8	p.Thr2507Ala	rs780826179	missense variant	-	NC_000014.9:g.31102947T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2508Asp	rs368406709	missense variant	-	NC_000014.9:g.31102942T>A	ESP,ExAC,gnomAD
HECTD1	Q9ULT8	p.Arg2515His	rs964793346	missense variant	-	NC_000014.9:g.31102922C>T	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2517Gly	rs1290338946	missense variant	-	NC_000014.9:g.31102917T>C	TOPMed
HECTD1	Q9ULT8	p.Pro2518Ser	rs776204796	missense variant	-	NC_000014.9:g.31101323G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly2519Val	rs1195967938	missense variant	-	NC_000014.9:g.31101319C>A	gnomAD
HECTD1	Q9ULT8	p.Val2524Leu	rs1478104798	missense variant	-	NC_000014.9:g.31101305C>A	gnomAD
HECTD1	Q9ULT8	p.Arg2525Ser	rs999322208	missense variant	-	NC_000014.9:g.31101300C>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2527Phe	rs775013458	missense variant	-	NC_000014.9:g.31101294T>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Gly2551Ala	rs1448842454	missense variant	-	NC_000014.9:g.31101223C>G	TOPMed
HECTD1	Q9ULT8	p.Ala2554Val	rs756376986	missense variant	-	NC_000014.9:g.31101214G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala2554Gly	rs756376986	missense variant	-	NC_000014.9:g.31101214G>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Asn2555Asp	rs979136541	missense variant	-	NC_000014.9:g.31101212T>C	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Leu2556Val	rs1176514454	missense variant	-	NC_000014.9:g.31101209G>C	gnomAD
HECTD1	Q9ULT8	p.Arg2564Cys	rs767715938	missense variant	-	NC_000014.9:g.31101185G>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Arg2564His	rs1260770160	missense variant	-	NC_000014.9:g.31101184C>T	gnomAD
HECTD1	Q9ULT8	p.Val2566Ile	rs1285500280	missense variant	-	NC_000014.9:g.31101067C>T	gnomAD
HECTD1	Q9ULT8	p.Asp2567Asn	rs748381893	missense variant	-	NC_000014.9:g.31101064C>T	ExAC,gnomAD
HECTD1	Q9ULT8	p.Thr2569Ile	rs1281428932	missense variant	-	NC_000014.9:g.31101057G>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Thr2569Ala	rs781556696	missense variant	-	NC_000014.9:g.31101058T>C	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ala2571Val	rs755070818	missense variant	-	NC_000014.9:g.31101051G>A	ExAC,gnomAD
HECTD1	Q9ULT8	p.Ser2572Gly	rs751636123	missense variant	-	NC_000014.9:g.31101049T>C	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Ser2572Asn	rs1364592881	missense variant	-	NC_000014.9:g.31101048C>T	gnomAD
HECTD1	Q9ULT8	p.His2581Arg	rs1274784536	missense variant	-	NC_000014.9:g.31101021T>C	TOPMed
HECTD1	Q9ULT8	p.Glu2587Asp	rs753727227	missense variant	-	NC_000014.9:g.31101002T>G	ExAC,gnomAD
HECTD1	Q9ULT8	p.Glu2591Gln	rs752414874	missense variant	-	NC_000014.9:g.31100992C>G	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2591Val	rs1432657359	missense variant	-	NC_000014.9:g.31100991T>A	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2591Lys	rs752414874	missense variant	-	NC_000014.9:g.31100992C>T	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2594Leu	rs767188827	missense variant	-	NC_000014.9:g.31100983T>A	ExAC,TOPMed,gnomAD
HECTD1	Q9ULT8	p.Glu2596Ala	rs993454264	missense variant	-	NC_000014.9:g.31100976T>G	TOPMed,gnomAD
HECTD1	Q9ULT8	p.Met2603Val	rs888537319	missense variant	-	NC_000014.9:g.31100956T>C	gnomAD
HECTD1	Q9ULT8	p.Met2603Ile	rs1243235052	missense variant	-	NC_000014.9:g.31100954C>T	gnomAD
HECTD1	Q9ULT8	p.Gly2606Ser	rs759019571	missense variant	-	NC_000014.9:g.31100947C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Glu3Gly	rs757097388	missense variant	-	NC_000010.11:g.102504160A>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Leu4Arg	rs1297525468	missense variant	-	NC_000010.11:g.102504163T>G	TOPMed
SUFU	Q9UMX1	p.Arg5Trp	rs948353979	missense variant	-	NC_000010.11:g.102504165C>T	TOPMed,gnomAD
SUFU	Q9UMX1	p.Ser7Asn	rs1449152687	missense variant	-	NC_000010.11:g.102504172G>A	gnomAD
SUFU	Q9UMX1	p.Gly8Ser	rs769696737	missense variant	-	NC_000010.11:g.102504174G>A	ExAC
SUFU	Q9UMX1	p.Ala9Asp	rs775491374	missense variant	-	NC_000010.11:g.102504178C>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Ala9Thr	rs1457645233	missense variant	-	NC_000010.11:g.102504177G>A	TOPMed
SUFU	Q9UMX1	p.Ala9Val	rs775491374	missense variant	-	NC_000010.11:g.102504178C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Ala9Val	RCV000628510	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504178C>T	ClinVar
SUFU	Q9UMX1	p.Gly11Ala	rs1227379293	missense variant	-	NC_000010.11:g.102504184G>C	gnomAD
SUFU	Q9UMX1	p.Gly11Ser	rs1322807658	missense variant	-	NC_000010.11:g.102504183G>A	gnomAD
SUFU	Q9UMX1	p.Gly11Asp	rs1227379293	missense variant	-	NC_000010.11:g.102504184G>A	gnomAD
SUFU	Q9UMX1	p.Gly11Arg	rs1322807658	missense variant	-	NC_000010.11:g.102504183G>C	gnomAD
SUFU	Q9UMX1	p.Gly11Asp	RCV000707040	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504184G>A	ClinVar
SUFU	Q9UMX1	p.Thr13Ile	rs768935165	missense variant	-	NC_000010.11:g.102504190C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Thr13Pro	rs1456048322	missense variant	-	NC_000010.11:g.102504189A>C	TOPMed,gnomAD
SUFU	Q9UMX1	p.Thr13Ser	rs768935165	missense variant	-	NC_000010.11:g.102504190C>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala14Pro	rs1460606381	missense variant	-	NC_000010.11:g.102504192G>C	gnomAD
SUFU	Q9UMX1	p.Pro15Leu	rs28942088	missense variant	-	NC_000010.11:g.102504196C>T	UniProt,dbSNP
SUFU	Q9UMX1	p.Pro15Leu	VAR_021566	missense variant	-	NC_000010.11:g.102504196C>T	UniProt
SUFU	Q9UMX1	p.Pro15Leu	rs28942088	missense variant	Medulloblastoma (mdb)	NC_000010.11:g.102504196C>T	-
SUFU	Q9UMX1	p.Pro15Thr	RCV000535620	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504195C>A	ClinVar
SUFU	Q9UMX1	p.Pro15Thr	rs761921681	missense variant	-	NC_000010.11:g.102504195C>A	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro15Leu	RCV000003750	missense variant	Medulloblastoma (MDB)	NC_000010.11:g.102504196C>T	ClinVar
SUFU	Q9UMX1	p.Pro16Thr	rs978312925	missense variant	-	NC_000010.11:g.102504198C>A	gnomAD
SUFU	Q9UMX1	p.Ala17Asp	rs12780580	missense variant	-	NC_000010.11:g.102504202C>A	1000Genomes,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala17Val	rs12780580	missense variant	-	NC_000010.11:g.102504202C>T	1000Genomes,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala17Pro	rs1332143456	missense variant	-	NC_000010.11:g.102504201G>C	gnomAD
SUFU	Q9UMX1	p.Ala17Val	RCV000475558	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504202C>T	ClinVar
SUFU	Q9UMX1	p.Pro18Arg	rs1489443369	missense variant	-	NC_000010.11:g.102504205C>G	TOPMed
SUFU	Q9UMX1	p.Gly19Ser	rs1207697890	missense variant	-	NC_000010.11:g.102504207G>A	TOPMed
SUFU	Q9UMX1	p.Gly19Ser	RCV000628509	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504207G>A	ClinVar
SUFU	Q9UMX1	p.Gly19Val	VAR_080418	Missense	-	-	UniProt
SUFU	Q9UMX1	p.Pro20Ala	rs936379170	missense variant	-	NC_000010.11:g.102504210C>G	gnomAD
SUFU	Q9UMX1	p.Pro20Ser	rs936379170	missense variant	-	NC_000010.11:g.102504210C>T	gnomAD
SUFU	Q9UMX1	p.Ala22Val	rs761240106	missense variant	-	NC_000010.11:g.102504217C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala22Gly	rs761240106	missense variant	-	NC_000010.11:g.102504217C>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala22Gly	RCV000474319	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504217C>G	ClinVar
SUFU	Q9UMX1	p.Pro23Ala	rs766666529	missense variant	-	NC_000010.11:g.102504219C>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro23Ser	rs766666529	missense variant	-	NC_000010.11:g.102504219C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro23Ser	RCV000574522	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102504219C>T	ClinVar
SUFU	Q9UMX1	p.Pro23Ser	RCV000821320	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504219C>T	ClinVar
SUFU	Q9UMX1	p.Pro24Thr	rs1219870817	missense variant	-	NC_000010.11:g.102504222C>A	gnomAD
SUFU	Q9UMX1	p.Pro24Leu	rs754218597	missense variant	-	NC_000010.11:g.102504223C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Pro24Ter	RCV000003755	frameshift	Medulloblastoma with extensive nodularity (MBEN)	NC_000010.11:g.102504223del	ClinVar
SUFU	Q9UMX1	p.Pro24SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.102504219_102504225CCCCCGG>-	NCI-TCGA
SUFU	Q9UMX1	p.Ser28Leu	rs758001170	missense variant	-	NC_000010.11:g.102504235C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro31Ala	RCV000628504	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504243C>G	ClinVar
SUFU	Q9UMX1	p.Pro31Ala	rs1554840836	missense variant	-	NC_000010.11:g.102504243C>G	-
SUFU	Q9UMX1	p.Gly33Ala	rs1391787041	missense variant	-	NC_000010.11:g.102504250G>C	TOPMed
SUFU	Q9UMX1	p.Ala36Val	RCV000228401	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504259C>T	ClinVar
SUFU	Q9UMX1	p.Ala36Val	rs566714720	missense variant	-	NC_000010.11:g.102504259C>T	1000Genomes,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ile37Val	rs745793517	missense variant	-	NC_000010.11:g.102504261A>G	UniProt,dbSNP
SUFU	Q9UMX1	p.Ile37Val	VAR_080419	missense variant	-	NC_000010.11:g.102504261A>G	UniProt
SUFU	Q9UMX1	p.Ile37Val	rs745793517	missense variant	-	NC_000010.11:g.102504261A>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Tyr38Ter	rs1171424714	stop gained	-	NC_000010.11:g.102504266C>A	gnomAD
SUFU	Q9UMX1	p.Tyr38Ter	RCV000200021	frameshift	Medulloblastoma (MDB)	NC_000010.11:g.102504263del	ClinVar
SUFU	Q9UMX1	p.Gly39Glu	rs756123785	missense variant	-	NC_000010.11:g.102504268G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Gly39Val	rs756123785	missense variant	-	NC_000010.11:g.102504268G>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Cys41Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102504274G>A	NCI-TCGA
SUFU	Q9UMX1	p.Arg43Cys	rs749116979	missense variant	-	NC_000010.11:g.102504279C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Leu44Pro	rs768375628	missense variant	-	NC_000010.11:g.102504283T>C	ExAC,gnomAD
SUFU	Q9UMX1	p.Tyr45Ser	rs774611157	missense variant	-	NC_000010.11:g.102504286A>C	ExAC
SUFU	Q9UMX1	p.Pro46Ser	rs748377573	missense variant	-	NC_000010.11:g.102504288C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Asp47Ala	rs772190051	missense variant	-	NC_000010.11:g.102504292A>C	ExAC,gnomAD
SUFU	Q9UMX1	p.Pro49Leu	rs1479128337	missense variant	-	NC_000010.11:g.102504298C>T	TOPMed
SUFU	Q9UMX1	p.Leu52Ile	rs1280289741	missense variant	-	NC_000010.11:g.102504306C>A	gnomAD
SUFU	Q9UMX1	p.Ala56Ser	rs200061483	missense variant	-	NC_000010.11:g.102504318G>T	TOPMed
SUFU	Q9UMX1	p.Ile57Val	RCV000573039	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102504321A>G	ClinVar
SUFU	Q9UMX1	p.Ile57Val	RCV000232777	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504321A>G	ClinVar
SUFU	Q9UMX1	p.Ile57Val	rs377614167	missense variant	-	NC_000010.11:g.102504321A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ile57Thr	rs761115669	missense variant	-	NC_000010.11:g.102504322T>C	ExAC,gnomAD
SUFU	Q9UMX1	p.Ile57Met	RCV000691076	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102504323C>G	ClinVar
SUFU	Q9UMX1	p.Val58Leu	rs766897671	missense variant	-	NC_000010.11:g.102504324G>C	ExAC,gnomAD
SUFU	Q9UMX1	p.Val58Ter	RCV000463016	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102504323dup	ClinVar
SUFU	Q9UMX1	p.Lys59Ter	RCV000705859	nonsense	Gorlin syndrome (BCNS)	NC_000010.11:g.102504327A>T	ClinVar
SUFU	Q9UMX1	p.Gly63Asp	rs753820791	missense variant	-	NC_000010.11:g.102509174G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Gly64Val	COSM4011291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509177G>T	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Pro65Gln	COSM4915436	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509180C>A	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Pro67Arg	RCV000686796	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509186C>G	ClinVar
SUFU	Q9UMX1	p.Ser72Cys	COSM4924124	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509200A>T	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Met73Leu	rs1183694060	missense variant	-	NC_000010.11:g.102509203A>C	TOPMed
SUFU	Q9UMX1	p.Tyr74His	COSM277525	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509206T>C	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Tyr74Cys	COSM4011292	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102509207A>G	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Arg75Ser	RCV000628508	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509211G>T	ClinVar
SUFU	Q9UMX1	p.Arg75Ser	rs141532626	missense variant	-	NC_000010.11:g.102509211G>T	ESP,ExAC,TOPMed
SUFU	Q9UMX1	p.Arg75Lys	rs1290561880	missense variant	-	NC_000010.11:g.102509210G>A	gnomAD
SUFU	Q9UMX1	p.Val77Met	VAR_080420	Missense	-	-	UniProt
SUFU	Q9UMX1	p.Asn83Lys	rs994476275	missense variant	-	NC_000010.11:g.102509235C>A	TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro85Ser	rs1187640052	missense variant	-	NC_000010.11:g.102509239C>T	TOPMed
SUFU	Q9UMX1	p.Pro85Leu	rs777936677	missense variant	-	NC_000010.11:g.102509240C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Glu86Lys	rs770989077	missense variant	-	NC_000010.11:g.102509242G>A	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ile91Asn	rs781318691	missense variant	-	NC_000010.11:g.102509258T>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Ser92Thr	rs746322193	missense variant	-	NC_000010.11:g.102509261G>C	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ser92Arg	rs1060501106	missense variant	-	NC_000010.11:g.102509262C>G	-
SUFU	Q9UMX1	p.Ser92Thr	RCV000763640	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509261G>C	ClinVar
SUFU	Q9UMX1	p.Ser92Thr	RCV000476504	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509261G>C	ClinVar
SUFU	Q9UMX1	p.Ser92Arg	RCV000464862	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509262C>G	ClinVar
SUFU	Q9UMX1	p.Tyr99Cys	RCV000706452	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509282A>G	ClinVar
SUFU	Q9UMX1	p.Tyr99Cys	rs1464640869	missense variant	-	NC_000010.11:g.102509282A>G	gnomAD
SUFU	Q9UMX1	p.Asn102Asp	RCV000699395	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102509290A>G	ClinVar
SUFU	Q9UMX1	p.Asn102Ser	rs146181245	missense variant	-	NC_000010.11:g.102509291A>G	ExAC,TOPMed
SUFU	Q9UMX1	p.Glu106Lys	rs1040654062	missense variant	-	NC_000010.11:g.102509302G>A	TOPMed,gnomAD
SUFU	Q9UMX1	p.Glu106Asp	rs1188593672	missense variant	-	NC_000010.11:g.102549970G>T	TOPMed,gnomAD
SUFU	Q9UMX1	p.Thr108Ala	rs1425171528	missense variant	-	NC_000010.11:g.102549974A>G	TOPMed,gnomAD
SUFU	Q9UMX1	p.Gly109Arg	rs192025919	missense variant	-	NC_000010.11:g.102549977G>A	1000Genomes,ExAC,gnomAD
SUFU	Q9UMX1	p.Thr110Arg	rs1171604398	missense variant	-	NC_000010.11:g.102549981C>G	TOPMed,gnomAD
SUFU	Q9UMX1	p.Thr110Ile	rs1171604398	missense variant	-	NC_000010.11:g.102549981C>T	TOPMed,gnomAD
SUFU	Q9UMX1	p.Asp111GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.102549983_102549984insGGAGATTTTCAGCAGTGTTGCCTCA	NCI-TCGA
SUFU	Q9UMX1	p.Asp111ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.102549981_102549982insA	NCI-TCGA
SUFU	Q9UMX1	p.Pro113Ser	rs1417049698	missense variant	-	NC_000010.11:g.102549989C>T	gnomAD
SUFU	Q9UMX1	p.Ser114Asn	rs781192849	missense variant	-	NC_000010.11:g.102549993G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Ser114Ter	RCV000474581	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102549993del	ClinVar
SUFU	Q9UMX1	p.Gly117Ala	RCV000702485	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550002G>C	ClinVar
SUFU	Q9UMX1	p.Leu120Val	rs1415947980	missense variant	-	NC_000010.11:g.102550010T>G	gnomAD
SUFU	Q9UMX1	p.Phe122Leu	RCV000697224	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550018T>G	ClinVar
SUFU	Q9UMX1	p.Arg123Cys	RCV000030790	missense variant	Meningioma, familial	NC_000010.11:g.102550019C>T	ClinVar
SUFU	Q9UMX1	p.Arg123Cys	rs202247756	missense variant	-	NC_000010.11:g.102550019C>T	-
SUFU	Q9UMX1	p.Arg123Cys	rs202247756	missense variant	-	NC_000010.11:g.102550019C>T	NCI-TCGA,NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Arg123His	rs745958724	missense variant	-	NC_000010.11:g.102550020G>A	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Lys125Arg	rs1278721542	missense variant	-	NC_000010.11:g.102550026A>G	TOPMed
SUFU	Q9UMX1	p.Lys125Asn	rs184867271	missense variant	-	NC_000010.11:g.102550027G>T	1000Genomes,ExAC,gnomAD
SUFU	Q9UMX1	p.Glu127Lys	rs1280071055	missense variant	-	NC_000010.11:g.102550031G>A	gnomAD
SUFU	Q9UMX1	p.Glu127Lys	RCV000628507	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550031G>A	ClinVar
SUFU	Q9UMX1	p.Thr128Asn	rs749864416	missense variant	-	NC_000010.11:g.102550035C>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Ser131Cys	rs199626362	missense variant	-	NC_000010.11:g.102550044C>G	1000Genomes,ExAC,gnomAD
SUFU	Q9UMX1	p.Ala132Gly	COSM1470312	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102550047C>G	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Pro134Leu	rs1220361404	missense variant	-	NC_000010.11:g.102550053C>T	TOPMed
SUFU	Q9UMX1	p.Thr135Ile	rs1347417323	missense variant	-	NC_000010.11:g.102550056C>T	gnomAD
SUFU	Q9UMX1	p.Thr135Ser	rs774859476	missense variant	-	NC_000010.11:g.102550055A>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Pro137Ser	RCV000700815	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550061C>T	ClinVar
SUFU	Q9UMX1	p.Pro137Ser	rs1564676427	missense variant	-	NC_000010.11:g.102550061C>T	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Ala138Thr	RCV000561880	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102550064G>A	ClinVar
SUFU	Q9UMX1	p.Ala138Ser	rs34406289	missense variant	-	NC_000010.11:g.102550064G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala138Thr	rs34406289	missense variant	-	NC_000010.11:g.102550064G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Leu140Phe	rs1060501111	missense variant	-	NC_000010.11:g.102550072A>T	-
SUFU	Q9UMX1	p.Leu140Phe	RCV000476561	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102550072A>T	ClinVar
SUFU	Q9UMX1	p.Leu144Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102550082T>G	NCI-TCGA
SUFU	Q9UMX1	p.Ala145Thr	COSM914239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102550085G>A	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Arg146Gln	rs764847917	missense variant	-	NC_000010.11:g.102550089G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Arg146Ter	rs1060501109	stop gained	-	NC_000010.11:g.102550088C>T	TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg146Ter	RCV000460887	nonsense	Gorlin syndrome (BCNS)	NC_000010.11:g.102550088C>T	ClinVar
SUFU	Q9UMX1	p.Arg146Ter	RCV000519054	nonsense	-	NC_000010.11:g.102550088C>T	ClinVar
SUFU	Q9UMX1	p.Arg146Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102550089G>T	NCI-TCGA
SUFU	Q9UMX1	p.Val148Leu	rs763813479	missense variant	-	NC_000010.11:g.102550094G>C	ExAC,gnomAD
SUFU	Q9UMX1	p.Val148Met	rs763813479	missense variant	-	NC_000010.11:g.102550094G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Val148Met	rs763813479	missense variant	-	NC_000010.11:g.102550094G>A	NCI-TCGA,NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Cys156Arg	rs1554852266	missense variant	-	NC_000010.11:g.102592593T>C	-
SUFU	Q9UMX1	p.Cys156Arg	RCV000576033	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102592593T>C	ClinVar
SUFU	Q9UMX1	p.Trp163Arg	rs1345244778	missense variant	-	NC_000010.11:g.102592614T>C	TOPMed
SUFU	Q9UMX1	p.Trp163Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.102592616G>A	NCI-TCGA
SUFU	Q9UMX1	p.Ser165Gly	rs368270585	missense variant	-	NC_000010.11:g.102592620A>G	ESP,TOPMed
SUFU	Q9UMX1	p.Ser165Ile	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102592621G>T	NCI-TCGA
SUFU	Q9UMX1	p.Asn169Ser	RCV000226982	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102592633A>G	ClinVar
SUFU	Q9UMX1	p.Asn169Ser	rs142672533	missense variant	-	NC_000010.11:g.102592633A>G	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ser170Thr	rs1357846729	missense variant	-	NC_000010.11:g.102592636G>C	gnomAD
SUFU	Q9UMX1	p.Arg173Lys	RCV000122094	missense variant	-	NC_000010.11:g.102592645G>A	ClinVar
SUFU	Q9UMX1	p.Arg173Ile	rs587778697	missense variant	-	NC_000010.11:g.102592645G>T	gnomAD
SUFU	Q9UMX1	p.Arg173Gly	rs779528026	missense variant	-	NC_000010.11:g.102592644A>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Arg173Lys	rs587778697	missense variant	-	NC_000010.11:g.102592645G>A	gnomAD
SUFU	Q9UMX1	p.Arg173Ser	rs1240758970	missense variant	-	NC_000010.11:g.102592646A>C	gnomAD
SUFU	Q9UMX1	p.His176Arg	RCV000515250	missense variant	JOUBERT SYNDROME 32 (JBTS32)	NC_000010.11:g.102592654A>G	ClinVar
SUFU	Q9UMX1	p.His176Arg	rs1554852272	missense variant	Joubert syndrome 32 (JBTS32)	NC_000010.11:g.102592654A>G	UniProt,dbSNP
SUFU	Q9UMX1	p.His176Arg	VAR_080421	missense variant	Joubert syndrome 32 (JBTS32)	NC_000010.11:g.102592654A>G	UniProt
SUFU	Q9UMX1	p.His176Arg	rs1554852272	missense variant	-	NC_000010.11:g.102592654A>G	-
SUFU	Q9UMX1	p.Met177Val	RCV000548377	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102592656A>G	ClinVar
SUFU	Q9UMX1	p.Met177Val	rs758672583	missense variant	-	NC_000010.11:g.102592656A>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro183Ser	rs1423074548	missense variant	-	NC_000010.11:g.102592674C>T	gnomAD
SUFU	Q9UMX1	p.Pro187Thr	rs745449378	missense variant	-	NC_000010.11:g.102592686C>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Val188Met	rs1462013962	missense variant	-	NC_000010.11:g.102592689G>A	gnomAD
SUFU	Q9UMX1	p.Gln189Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.102592692C>T	NCI-TCGA
SUFU	Q9UMX1	p.Val194Ile	rs1398294691	missense variant	-	NC_000010.11:g.102592707G>A	gnomAD
SUFU	Q9UMX1	p.Thr196Ter	RCV000529064	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102592712_102592713dup	ClinVar
SUFU	Q9UMX1	p.Leu198Arg	rs1394722312	missense variant	-	NC_000010.11:g.102592720T>G	gnomAD
SUFU	Q9UMX1	p.Leu198Val	rs1008594155	missense variant	-	NC_000010.11:g.102592719C>G	TOPMed,gnomAD
SUFU	Q9UMX1	p.Ile200Val	rs778399044	missense variant	-	NC_000010.11:g.102593636A>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Val201Ala	rs772840788	missense variant	-	NC_000010.11:g.102593640T>C	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Val201Ile	rs147695965	missense variant	-	NC_000010.11:g.102593639G>A	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Gly202Val	rs1215780897	missense variant	-	NC_000010.11:g.102593643G>T	gnomAD
SUFU	Q9UMX1	p.Gly202Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102593642G>A	NCI-TCGA
SUFU	Q9UMX1	p.Val203Ile	rs760484608	missense variant	-	NC_000010.11:g.102593645G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Thr205Ile	rs1478836560	missense variant	-	NC_000010.11:g.102593652C>T	gnomAD
SUFU	Q9UMX1	p.Leu208Ile	COSM3985390	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102593660C>A	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.His209Tyr	rs770678862	missense variant	-	NC_000010.11:g.102593663C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Gln212Ter	COSM3367871	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.102593672C>T	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Gln213Glu	rs907135467	missense variant	-	NC_000010.11:g.102593675C>G	TOPMed,gnomAD
SUFU	Q9UMX1	p.Asn215Ser	rs1178631893	missense variant	-	NC_000010.11:g.102593682A>G	gnomAD
SUFU	Q9UMX1	p.Glu221Asp	rs759900608	missense variant	-	NC_000010.11:g.102593701G>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Leu222Val	rs765345575	missense variant	-	NC_000010.11:g.102593702C>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Arg224Gln	RCV000548813	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102593709G>A	ClinVar
SUFU	Q9UMX1	p.Arg224Gln	rs199673680	missense variant	-	NC_000010.11:g.102593709G>A	1000Genomes,ExAC,gnomAD
SUFU	Q9UMX1	p.Arg224Trp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102593708C>T	NCI-TCGA
SUFU	Q9UMX1	p.Thr225Arg	rs1432427138	missense variant	-	NC_000010.11:g.102593712C>G	TOPMed
SUFU	Q9UMX1	p.Val226Ala	rs895181370	missense variant	-	NC_000010.11:g.102593715T>C	TOPMed
SUFU	Q9UMX1	p.Ile228Val	RCV000628515	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102593720A>G	ClinVar
SUFU	Q9UMX1	p.Ile228Val	rs555976050	missense variant	-	NC_000010.11:g.102593720A>G	1000Genomes,TOPMed,gnomAD
SUFU	Q9UMX1	p.Gly231Ser	RCV000701992	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594000G>A	ClinVar
SUFU	Q9UMX1	p.Gly231Ser	rs1457485957	missense variant	-	NC_000010.11:g.102594000G>A	gnomAD
SUFU	Q9UMX1	p.Pro232Leu	RCV000554665	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594004C>T	ClinVar
SUFU	Q9UMX1	p.Pro232Leu	rs1240436102	missense variant	-	NC_000010.11:g.102594004C>T	gnomAD
SUFU	Q9UMX1	p.Pro232Ser	rs1060501110	missense variant	-	NC_000010.11:g.102594003C>T	-
SUFU	Q9UMX1	p.Pro232Ser	RCV000467698	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594003C>T	ClinVar
SUFU	Q9UMX1	p.Pro232Ser	RCV000756730	missense variant	-	NC_000010.11:g.102594003C>T	ClinVar
SUFU	Q9UMX1	p.Ile235Val	RCV000628494	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594012A>G	ClinVar
SUFU	Q9UMX1	p.Ile235Val	rs144666812	missense variant	-	NC_000010.11:g.102594012A>G	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Met238Ile	rs1163154516	missense variant	-	NC_000010.11:g.102594023G>A	gnomAD
SUFU	Q9UMX1	p.Arg239Gln	rs1403040084	missense variant	-	NC_000010.11:g.102594025G>A	gnomAD
SUFU	Q9UMX1	p.Arg239Trp	rs369465986	missense variant	-	NC_000010.11:g.102594024C>T	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Gly241GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.102594028G>-	NCI-TCGA
SUFU	Q9UMX1	p.Glu242Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102594035G>T	NCI-TCGA
SUFU	Q9UMX1	p.Thr243Asn	rs544734275	missense variant	-	NC_000010.11:g.102594037C>A	1000Genomes,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Thr243Ser	rs762294261	missense variant	-	NC_000010.11:g.102594036A>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Ile244Val	rs1378645161	missense variant	-	NC_000010.11:g.102594039A>G	TOPMed
SUFU	Q9UMX1	p.Phe245Ser	rs1303650670	missense variant	-	NC_000010.11:g.102594043T>C	TOPMed
SUFU	Q9UMX1	p.Phe245Val	rs1337281398	missense variant	-	NC_000010.11:g.102594042T>G	gnomAD
SUFU	Q9UMX1	p.Asp248Asn	rs1283509771	missense variant	-	NC_000010.11:g.102594051G>A	TOPMed,gnomAD
SUFU	Q9UMX1	p.Asp248Asn	RCV000685873	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594051G>A	ClinVar
SUFU	Q9UMX1	p.His250Arg	rs750808785	missense variant	-	NC_000010.11:g.102594058A>G	ExAC,gnomAD
SUFU	Q9UMX1	p.His250Gln	rs1235137905	missense variant	-	NC_000010.11:g.102594059C>A	gnomAD
SUFU	Q9UMX1	p.His250Gln	RCV000538851	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102594059C>A	ClinVar
SUFU	Q9UMX1	p.Gln252His	rs1317467424	missense variant	-	NC_000010.11:g.102594065A>C	TOPMed,gnomAD
SUFU	Q9UMX1	p.Glu253Lys	rs769755064	missense variant	-	NC_000010.11:g.102597140G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Gly258Val	rs775760512	missense variant	-	NC_000010.11:g.102597156G>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Ile259Met	rs749533220	missense variant	-	NC_000010.11:g.102597160C>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ile259Met	RCV000532214	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597160C>G	ClinVar
SUFU	Q9UMX1	p.Glu260Lys	rs775245784	missense variant	-	NC_000010.11:g.102597161G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Asp262His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102597167G>C	NCI-TCGA
SUFU	Q9UMX1	p.Ser264Ala	rs1293883579	missense variant	-	NC_000010.11:g.102597173T>G	gnomAD
SUFU	Q9UMX1	p.Ala271Ser	rs762258680	missense variant	-	NC_000010.11:g.102597194G>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala274Thr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102597203G>A	NCI-TCGA
SUFU	Q9UMX1	p.Ala274Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102597204C>A	NCI-TCGA
SUFU	Q9UMX1	p.Trp275Ter	RCV000701195	nonsense	Gorlin syndrome (BCNS)	NC_000010.11:g.102597207G>A	ClinVar
SUFU	Q9UMX1	p.Asp276Gly	rs772598822	missense variant	-	NC_000010.11:g.102597210A>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Asp276Tyr	rs1296180292	missense variant	-	NC_000010.11:g.102597209G>T	gnomAD
SUFU	Q9UMX1	p.Leu278Val	rs1060504147	missense variant	-	NC_000010.11:g.102597215C>G	gnomAD
SUFU	Q9UMX1	p.Ser279Arg	RCV000692421	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597220C>G	ClinVar
SUFU	Q9UMX1	p.Ser279Asn	rs1486885056	missense variant	-	NC_000010.11:g.102597219G>A	gnomAD
SUFU	Q9UMX1	p.Arg280Trp	rs761003435	missense variant	-	NC_000010.11:g.102597221C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg280Gln	rs145704867	missense variant	-	NC_000010.11:g.102597222G>A	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg280Gln	RCV000233540	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597222G>A	ClinVar
SUFU	Q9UMX1	p.Pro281Leu	rs752387760	missense variant	-	NC_000010.11:g.102597225C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro282Ser	rs1215810497	missense variant	-	NC_000010.11:g.102597227C>T	TOPMed,gnomAD
SUFU	Q9UMX1	p.Glu283ArgPheSerTerUnk	COSM5831376	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.102597223_102597224insC	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Glu283Lys	COSM426991	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102597230G>A	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Glu283Ter	rs1554852789	stop gained	-	NC_000010.11:g.102597230G>T	-
SUFU	Q9UMX1	p.Glu283Gly	rs763598499	missense variant	-	NC_000010.11:g.102597231A>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Glu283Ter	RCV000498012	nonsense	-	NC_000010.11:g.102597230G>T	ClinVar
SUFU	Q9UMX1	p.Glu283Ter	RCV000691871	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102597229dup	ClinVar
SUFU	Q9UMX1	p.Asp284Tyr	COSM6128144	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102597233G>T	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Asp285Asn	rs376865220	missense variant	-	NC_000010.11:g.102597236G>A	ESP,TOPMed
SUFU	Q9UMX1	p.Glu286Lys	rs564728455	missense variant	-	NC_000010.11:g.102597239G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Glu286Gly	rs1313405479	missense variant	-	NC_000010.11:g.102597240A>G	gnomAD
SUFU	Q9UMX1	p.Asp287Glu	rs1240385834	missense variant	-	NC_000010.11:g.102597244C>G	gnomAD
SUFU	Q9UMX1	p.Asp287Asn	rs750436246	missense variant	-	NC_000010.11:g.102597242G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Ser288Arg	rs1398154303	missense variant	-	NC_000010.11:g.102597247C>A	TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg289Trp	rs755961394	missense variant	-	NC_000010.11:g.102597248C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg289Gln	rs149016373	missense variant	-	NC_000010.11:g.102597249G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg289Gln	RCV000566014	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102597249G>A	ClinVar
SUFU	Q9UMX1	p.Arg289Gln	RCV000465818	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597249G>A	ClinVar
SUFU	Q9UMX1	p.Ser290Thr	rs749461207	missense variant	-	NC_000010.11:g.102597252G>C	ExAC,gnomAD
SUFU	Q9UMX1	p.Ile291Thr	RCV000821028	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597255T>C	ClinVar
SUFU	Q9UMX1	p.Ile291Thr	rs587778698	missense variant	-	NC_000010.11:g.102597255T>C	TOPMed
SUFU	Q9UMX1	p.Cys292Phe	rs193921097	missense variant	-	NC_000010.11:g.102597258G>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Cys292Phe	RCV000628495	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597258G>T	ClinVar
SUFU	Q9UMX1	p.Cys292Tyr	RCV000149087	missense variant	Malignant tumor of prostate	NC_000010.11:g.102597258G>A	ClinVar
SUFU	Q9UMX1	p.Cys292Tyr	rs193921097	missense variant	-	NC_000010.11:g.102597258G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Ile293Val	rs574002050	missense variant	-	NC_000010.11:g.102597260A>G	UniProt,dbSNP
SUFU	Q9UMX1	p.Ile293Val	VAR_080423	missense variant	-	NC_000010.11:g.102597260A>G	UniProt
SUFU	Q9UMX1	p.Ile293Val	rs574002050	missense variant	-	NC_000010.11:g.102597260A>G	1000Genomes,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ile293Asn	rs1487599100	missense variant	-	NC_000010.11:g.102597261T>A	gnomAD
SUFU	Q9UMX1	p.Ile293Leu	rs574002050	missense variant	-	NC_000010.11:g.102597260A>C	1000Genomes,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Gly294Asp	rs761234425	missense variant	-	NC_000010.11:g.102597264G>A	ExAC,TOPMed
SUFU	Q9UMX1	p.Gly294Ser	rs143807689	missense variant	-	NC_000010.11:g.102597263G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Gly294Ser	RCV000533501	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597263G>A	ClinVar
SUFU	Q9UMX1	p.Gln296Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.102597269C>T	NCI-TCGA
SUFU	Q9UMX1	p.Arg298Trp	rs771255988	missense variant	-	NC_000010.11:g.102597275C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg298Gln	rs1197687313	missense variant	-	NC_000010.11:g.102597276G>A	gnomAD
SUFU	Q9UMX1	p.Arg299Gln	rs374946819	missense variant	-	NC_000010.11:g.102597279G>A	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg299Ter	RCV000695755	frameshift	Gorlin syndrome (BCNS)	NC_000010.11:g.102597278_102597279insTGTGT	ClinVar
SUFU	Q9UMX1	p.Arg299_His484del	VAR_080424	inframe_deletion	-	-	UniProt
SUFU	Q9UMX1	p.Leu300Phe	rs1399033829	missense variant	-	NC_000010.11:g.102597281C>T	TOPMed
SUFU	Q9UMX1	p.Ser301Phe	RCV000546124	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597285C>T	ClinVar
SUFU	Q9UMX1	p.Ser301Cys	RCV000689651	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102597285C>G	ClinVar
SUFU	Q9UMX1	p.Ser301Phe	rs1554852823	missense variant	-	NC_000010.11:g.102597285C>T	-
SUFU	Q9UMX1	p.Gly302Ser	rs1164574977	missense variant	-	NC_000010.11:g.102597287G>A	gnomAD
SUFU	Q9UMX1	p.Lys303Asn	rs763689904	missense variant	-	NC_000010.11:g.102597292A>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Asp304Tyr	rs1385719041	missense variant	-	NC_000010.11:g.102597293G>T	gnomAD
SUFU	Q9UMX1	p.Arg309Trp	rs148160011	missense variant	-	NC_000010.11:g.102599447C>T	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg309Gln	RCV000469147	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599448G>A	ClinVar
SUFU	Q9UMX1	p.Arg309Gln	rs770246373	missense variant	-	NC_000010.11:g.102599448G>A	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg309Trp	RCV000458074	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599447C>T	ClinVar
SUFU	Q9UMX1	p.Glu310Lys	rs376797758	missense variant	-	NC_000010.11:g.102599450G>A	ESP,ExAC,gnomAD
SUFU	Q9UMX1	p.Glu310Gln	rs376797758	missense variant	-	NC_000010.11:g.102599450G>C	ESP,ExAC,gnomAD
SUFU	Q9UMX1	p.Thr311Asn	rs1270751140	missense variant	-	NC_000010.11:g.102599454C>A	gnomAD
SUFU	Q9UMX1	p.Arg314Lys	rs369741612	missense variant	-	NC_000010.11:g.102599463G>A	ESP,ExAC,gnomAD
SUFU	Q9UMX1	p.Gly315Arg	rs141737156	missense variant	-	NC_000010.11:g.102599465G>A	1000Genomes,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Leu316Phe	rs1554853004	missense variant	-	NC_000010.11:g.102599468C>T	-
SUFU	Q9UMX1	p.Leu316Pro	rs958173615	missense variant	-	NC_000010.11:g.102599469T>C	TOPMed
SUFU	Q9UMX1	p.Leu316Phe	RCV000628514	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599468C>T	ClinVar
SUFU	Q9UMX1	p.Glu317Lys	rs988284678	missense variant	-	NC_000010.11:g.102599471G>A	TOPMed
SUFU	Q9UMX1	p.Asn319Lys	rs535845342	missense variant	-	NC_000010.11:g.102599479C>G	1000Genomes,gnomAD
SUFU	Q9UMX1	p.Asn319Ser	rs1479527039	missense variant	-	NC_000010.11:g.102599478A>G	gnomAD
SUFU	Q9UMX1	p.Ser320Asn	rs753862598	missense variant	-	NC_000010.11:g.102599481G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Pro322Ala	rs765142948	missense variant	-	NC_000010.11:g.102599486C>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Pro322His	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102599487C>A	NCI-TCGA
SUFU	Q9UMX1	p.Val323Asp	rs1475601053	missense variant	-	NC_000010.11:g.102599490T>A	gnomAD
SUFU	Q9UMX1	p.Val323Ile	rs1420089970	missense variant	-	NC_000010.11:g.102599489G>A	gnomAD
SUFU	Q9UMX1	p.Leu324Pro	rs1170234423	missense variant	-	NC_000010.11:g.102599493T>C	gnomAD
SUFU	Q9UMX1	p.Ile327Val	rs752846043	missense variant	-	NC_000010.11:g.102599501A>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Gln330Arg	rs1060501107	missense variant	-	NC_000010.11:g.102599511A>G	-
SUFU	Q9UMX1	p.Gln330Arg	RCV000459322	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599511A>G	ClinVar
SUFU	Q9UMX1	p.Arg331Gln	RCV000563167	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102599514G>A	ClinVar
SUFU	Q9UMX1	p.Arg331Trp	RCV000537135	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599513C>T	ClinVar
SUFU	Q9UMX1	p.Arg331Trp	rs768170991	missense variant	-	NC_000010.11:g.102599513C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg331Gln	rs141359583	missense variant	-	NC_000010.11:g.102599514G>A	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg331Gln	RCV000463863	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599514G>A	ClinVar
SUFU	Q9UMX1	p.Gln332Glu	rs747125633	missense variant	-	NC_000010.11:g.102599516C>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Gly334Ala	rs1295694684	missense variant	-	NC_000010.11:g.102599523G>C	gnomAD
SUFU	Q9UMX1	p.Gly334Asp	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102599523G>A	NCI-TCGA
SUFU	Q9UMX1	p.Leu335Phe	rs757401093	missense variant	-	NC_000010.11:g.102599525C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Ala336Thr	RCV000549074	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599528G>A	ClinVar
SUFU	Q9UMX1	p.Ala336Thr	rs746448939	missense variant	-	NC_000010.11:g.102599528G>A	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.His337Arg	rs377274250	missense variant	-	NC_000010.11:g.102599532A>G	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Asp338Asn	rs145082320	missense variant	-	NC_000010.11:g.102599534G>A	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Asp338His	rs145082320	missense variant	-	NC_000010.11:g.102599534G>C	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg339Trp	RCV000231709	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599537C>T	ClinVar
SUFU	Q9UMX1	p.Arg339Trp	rs773037813	missense variant	-	NC_000010.11:g.102599537C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg339Pro	rs369910221	missense variant	-	NC_000010.11:g.102599538G>C	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg339Pro	RCV000628506	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102599538G>C	ClinVar
SUFU	Q9UMX1	p.Arg339Gln	rs369910221	missense variant	-	NC_000010.11:g.102599538G>A	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala340Ser	RCV000423552	missense variant	-	NC_000010.11:g.102599540G>T	ClinVar
SUFU	Q9UMX1	p.Ala340Pro	rs34135067	missense variant	-	NC_000010.11:g.102599540G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala340Ser	rs34135067	missense variant	-	NC_000010.11:g.102599540G>T	UniProt,dbSNP
SUFU	Q9UMX1	p.Ala340Ser	VAR_021567	missense variant	-	NC_000010.11:g.102599540G>T	UniProt
SUFU	Q9UMX1	p.Ala340Ser	rs34135067	missense variant	-	NC_000010.11:g.102599540G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro341Leu	RCV000122096	missense variant	-	NC_000010.11:g.102599544C>T	ClinVar
SUFU	Q9UMX1	p.Pro341Leu	rs587778699	missense variant	-	NC_000010.11:g.102599544C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ser342Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102615270G>A	NCI-TCGA
SUFU	Q9UMX1	p.Arg343Cys	RCV000456212	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615272C>T	ClinVar
SUFU	Q9UMX1	p.Arg343Cys	rs751728820	missense variant	-	NC_000010.11:g.102615272C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg343His	RCV000466509	missense variant	Medulloblastoma (MDB)	NC_000010.11:g.102615273G>A	ClinVar
SUFU	Q9UMX1	p.Arg343His	RCV000260834	missense variant	Medulloblastoma (MDB)	NC_000010.11:g.102615273G>A	ClinVar
SUFU	Q9UMX1	p.Arg343Leu	rs79299301	missense variant	-	NC_000010.11:g.102615273G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg343His	rs79299301	missense variant	-	NC_000010.11:g.102615273G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg343His	RCV000566455	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102615273G>A	ClinVar
SUFU	Q9UMX1	p.Arg343His	RCV000763641	missense variant	Medulloblastoma (MDB)	NC_000010.11:g.102615273G>A	ClinVar
SUFU	Q9UMX1	p.Glu348Gln	rs1447671524	missense variant	-	NC_000010.11:g.102615287G>C	TOPMed
SUFU	Q9UMX1	p.Ser349Gly	RCV000726658	missense variant	-	NC_000010.11:g.102615290A>G	ClinVar
SUFU	Q9UMX1	p.Ser349Ile	rs1419645738	missense variant	-	NC_000010.11:g.102615291G>T	gnomAD
SUFU	Q9UMX1	p.Ser349Gly	rs368178771	missense variant	-	NC_000010.11:g.102615290A>G	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ser349Gly	RCV000562404	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102615290A>G	ClinVar
SUFU	Q9UMX1	p.Ser349Gly	RCV000763642	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615290A>G	ClinVar
SUFU	Q9UMX1	p.Ser349Gly	RCV000471241	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615290A>G	ClinVar
SUFU	Q9UMX1	p.Ser352Tyr	RCV000628497	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615300C>A	ClinVar
SUFU	Q9UMX1	p.Ser352Tyr	rs1464341550	missense variant	-	NC_000010.11:g.102615300C>A	TOPMed
SUFU	Q9UMX1	p.Thr353Ser	rs1043574191	missense variant	-	NC_000010.11:g.102615302A>T	-
SUFU	Q9UMX1	p.Thr353Met	rs137880855	missense variant	-	NC_000010.11:g.102615303C>T	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Thr353Met	rs137880855	missense variant	-	NC_000010.11:g.102615303C>T	NCI-TCGA,NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Thr353Ser	RCV000537770	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615302A>T	ClinVar
SUFU	Q9UMX1	p.Thr353Met	RCV000464552	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615303C>T	ClinVar
SUFU	Q9UMX1	p.Ala354Gly	RCV000628512	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615306C>G	ClinVar
SUFU	Q9UMX1	p.Ala354Thr	rs1554854570	missense variant	-	NC_000010.11:g.102615305G>A	-
SUFU	Q9UMX1	p.Ala354Gly	rs1554854572	missense variant	-	NC_000010.11:g.102615306C>G	-
SUFU	Q9UMX1	p.Ala354Thr	RCV000550548	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615305G>A	ClinVar
SUFU	Q9UMX1	p.Ile355Val	RCV000699587	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615308A>G	ClinVar
SUFU	Q9UMX1	p.His358Pro	rs1432365875	missense variant	-	NC_000010.11:g.102615318A>C	TOPMed,gnomAD
SUFU	Q9UMX1	p.His358Arg	rs1432365875	missense variant	-	NC_000010.11:g.102615318A>G	TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg362Cys	RCV000570457	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102615329C>T	ClinVar
SUFU	Q9UMX1	p.Arg362His	rs755390277	missense variant	-	NC_000010.11:g.102615330G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Arg362Cys	rs36049457	missense variant	-	NC_000010.11:g.102615329C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg362Leu	RCV000539269	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615330G>T	ClinVar
SUFU	Q9UMX1	p.Arg362Leu	rs755390277	missense variant	-	NC_000010.11:g.102615330G>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Arg362His	RCV000526543	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615330G>A	ClinVar
SUFU	Q9UMX1	p.Arg362His	rs755390277	missense variant	-	NC_000010.11:g.102615330G>A	NCI-TCGA,NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Thr363Met	RCV000628502	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615333C>T	ClinVar
SUFU	Q9UMX1	p.Thr363Met	rs1554854578	missense variant	-	NC_000010.11:g.102615333C>T	-
SUFU	Q9UMX1	p.Arg364Gln	rs749802616	missense variant	-	NC_000010.11:g.102615336G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Arg364Trp	rs1305395503	missense variant	-	NC_000010.11:g.102615335C>T	gnomAD
SUFU	Q9UMX1	p.Arg364Pro	rs749802616	missense variant	-	NC_000010.11:g.102615336G>C	ExAC,gnomAD
SUFU	Q9UMX1	p.Arg364Trp	rs1305395503	missense variant	-	NC_000010.11:g.102615335C>T	NCI-TCGA
SUFU	Q9UMX1	p.Ser368Arg	rs746580970	missense variant	-	NC_000010.11:g.102615349C>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Val369Ile	RCV000525787	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615350G>A	ClinVar
SUFU	Q9UMX1	p.Val369Ala	rs1554854584	missense variant	-	NC_000010.11:g.102615351T>C	-
SUFU	Q9UMX1	p.Val369Ile	rs149449923	missense variant	-	NC_000010.11:g.102615350G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Val369Ala	RCV000628503	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615351T>C	ClinVar
SUFU	Q9UMX1	p.His370Pro	RCV000568981	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102615354_102615355delinsCG	ClinVar
SUFU	Q9UMX1	p.His370Pro	rs1554854585	missense variant	-	NC_000010.11:g.102615354_102615355delinsCG	-
SUFU	Q9UMX1	p.Phe373Val	rs1216604675	missense variant	-	NC_000010.11:g.102615362T>G	gnomAD
SUFU	Q9UMX1	p.Asn374Ser	rs1265012285	missense variant	-	NC_000010.11:g.102615366A>G	TOPMed,gnomAD
SUFU	Q9UMX1	p.Gln375Arg	rs769345450	missense variant	-	NC_000010.11:g.102615369A>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Gly378Ala	rs1254002019	missense variant	-	NC_000010.11:g.102615378G>C	TOPMed,gnomAD
SUFU	Q9UMX1	p.Gly378Arg	rs1256959985	missense variant	-	NC_000010.11:g.102615377G>A	TOPMed
SUFU	Q9UMX1	p.Ile381Val	rs574279090	missense variant	-	NC_000010.11:g.102615386A>G	1000Genomes,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro382Ser	rs768377755	missense variant	-	NC_000010.11:g.102615389C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Pro382Leu	rs1401882800	missense variant	-	NC_000010.11:g.102615390C>T	UniProt,dbSNP
SUFU	Q9UMX1	p.Pro382Leu	VAR_080425	missense variant	-	NC_000010.11:g.102615390C>T	UniProt
SUFU	Q9UMX1	p.Pro382Leu	rs1401882800	missense variant	-	NC_000010.11:g.102615390C>T	gnomAD
SUFU	Q9UMX1	p.Leu383Val	rs991500079	missense variant	-	NC_000010.11:g.102615392C>G	TOPMed
SUFU	Q9UMX1	p.Cys384Ser	rs375419295	missense variant	-	NC_000010.11:g.102615395T>A	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Cys384Arg	RCV000538222	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102615395T>C	ClinVar
SUFU	Q9UMX1	p.Cys384Arg	rs375419295	missense variant	-	NC_000010.11:g.102615395T>C	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Leu385Pro	rs761893182	missense variant	-	NC_000010.11:g.102615399T>C	ExAC,gnomAD
SUFU	Q9UMX1	p.Arg386Thr	rs767814106	missense variant	-	NC_000010.11:g.102615402G>C	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg386Lys	rs767814106	missense variant	-	NC_000010.11:g.102615402G>A	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Gly387Asp	rs747945243	missense variant	-	NC_000010.11:g.102617292G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.His391Tyr	rs1234263304	missense variant	-	NC_000010.11:g.102617303C>T	TOPMed
SUFU	Q9UMX1	p.Arg393Trp	rs201326378	missense variant	-	NC_000010.11:g.102617309C>T	NCI-TCGA,NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Arg393Ter	RCV000779015	frameshift	Medulloblastoma (MDB)	NC_000010.11:g.102617306_102617307dup	ClinVar
SUFU	Q9UMX1	p.Arg393Trp	rs201326378	missense variant	-	NC_000010.11:g.102617309C>T	1000Genomes,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Arg393Trp	RCV000628500	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617309C>T	ClinVar
SUFU	Q9UMX1	p.Arg393Gln	rs1055194219	missense variant	-	NC_000010.11:g.102617310G>A	TOPMed
SUFU	Q9UMX1	p.Phe395Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102617315T>G	NCI-TCGA
SUFU	Q9UMX1	p.Tyr397Cys	rs766508656	missense variant	-	NC_000010.11:g.102617322A>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ser399Asn	RCV000628505	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617328G>A	ClinVar
SUFU	Q9UMX1	p.Ser399Asn	rs1421345157	missense variant	-	NC_000010.11:g.102617328G>A	TOPMed,gnomAD
SUFU	Q9UMX1	p.Thr401Ile	rs776868943	missense variant	-	NC_000010.11:g.102617334C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Met404Val	rs1312190379	missense variant	-	NC_000010.11:g.102617342A>G	gnomAD
SUFU	Q9UMX1	p.Ala405Val	rs760076290	missense variant	-	NC_000010.11:g.102617346C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Ile406Met	rs1416629342	missense variant	-	NC_000010.11:g.102617350C>G	gnomAD
SUFU	Q9UMX1	p.Ile406Thr	rs1554854758	missense variant	-	NC_000010.11:g.102617349T>C	-
SUFU	Q9UMX1	p.Ile406Thr	rs1554854758	missense variant	Joubert syndrome 32 (JBTS32)	NC_000010.11:g.102617349T>C	UniProt,dbSNP
SUFU	Q9UMX1	p.Ile406Thr	VAR_080426	missense variant	Joubert syndrome 32 (JBTS32)	NC_000010.11:g.102617349T>C	UniProt
SUFU	Q9UMX1	p.Ile406Thr	RCV000515186	missense variant	JOUBERT SYNDROME 32 (JBTS32)	NC_000010.11:g.102617349T>C	ClinVar
SUFU	Q9UMX1	p.Ile406Val	rs1060501116	missense variant	-	NC_000010.11:g.102617348A>G	-
SUFU	Q9UMX1	p.Ile406Val	RCV000472492	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617348A>G	ClinVar
SUFU	Q9UMX1	p.Thr407Lys	rs1313595676	missense variant	-	NC_000010.11:g.102617352C>A	gnomAD
SUFU	Q9UMX1	p.Thr411Met	RCV000568227	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102617364C>T	ClinVar
SUFU	Q9UMX1	p.Thr411Met	rs368020224	missense variant	-	NC_000010.11:g.102617364C>T	ESP,ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Thr411Met	RCV000763643	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617364C>T	ClinVar
SUFU	Q9UMX1	p.Thr411Met	RCV000705071	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617364C>T	ClinVar
SUFU	Q9UMX1	p.Gly412Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102617366G>A	NCI-TCGA
SUFU	Q9UMX1	p.Ala416Thr	rs779490664	missense variant	-	NC_000010.11:g.102617378G>A	NCI-TCGA
SUFU	Q9UMX1	p.Ala416Thr	rs779490664	missense variant	-	NC_000010.11:g.102617378G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Ala416Thr	RCV000628499	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617378G>A	ClinVar
SUFU	Q9UMX1	p.Thr419Ala	rs748828586	missense variant	-	NC_000010.11:g.102617387A>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Thr419Ser	rs748828586	missense variant	-	NC_000010.11:g.102617387A>T	ExAC,gnomAD
SUFU	Q9UMX1	p.His422Arg	COSM4011296	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102617397A>G	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Ala425Val	rs1427876079	missense variant	-	NC_000010.11:g.102617406C>T	TOPMed
SUFU	Q9UMX1	p.Ala425Thr	rs748099523	missense variant	-	NC_000010.11:g.102617405G>A	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ala425Thr	RCV000552236	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102617405G>A	ClinVar
SUFU	Q9UMX1	p.Ala426Val	rs772895878	missense variant	-	NC_000010.11:g.102617409C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.Ala426Thr	rs1189930416	missense variant	-	NC_000010.11:g.102617408G>A	TOPMed
SUFU	Q9UMX1	p.His427Tyr	rs747175991	missense variant	-	NC_000010.11:g.102617411C>T	ExAC,gnomAD
SUFU	Q9UMX1	p.His427Arg	rs771305734	missense variant	-	NC_000010.11:g.102617412A>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Gln432Pro	rs1213931205	missense variant	-	NC_000010.11:g.102617427A>C	TOPMed
SUFU	Q9UMX1	p.Ile433Val	rs767376210	missense variant	-	NC_000010.11:g.102627175A>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Glu437Lys	rs766370528	missense variant	-	NC_000010.11:g.102627187G>A	NCI-TCGA,NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Glu437Lys	rs766370528	missense variant	-	NC_000010.11:g.102627187G>A	ExAC,gnomAD
SUFU	Q9UMX1	p.Glu437Lys	RCV000761042	missense variant	B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	NC_000010.11:g.102627187G>A	ClinVar
SUFU	Q9UMX1	p.Glu438Gly	rs1169655389	missense variant	-	NC_000010.11:g.102627191A>G	gnomAD
SUFU	Q9UMX1	p.Phe439Ser	RCV000628501	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102627194T>C	ClinVar
SUFU	Q9UMX1	p.Phe439Ser	rs778975698	missense variant	-	NC_000010.11:g.102627194T>C	ExAC,gnomAD
SUFU	Q9UMX1	p.Phe439Cys	rs778975698	missense variant	-	NC_000010.11:g.102627194T>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Lys442Asn	rs1311816626	missense variant	-	NC_000010.11:g.102627204A>C	TOPMed
SUFU	Q9UMX1	p.Lys442Arg	rs772598739	missense variant	-	NC_000010.11:g.102627203A>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Met443Ile	RCV000532935	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102627207G>A	ClinVar
SUFU	Q9UMX1	p.Met443Ile	rs773805575	missense variant	-	NC_000010.11:g.102627207G>A	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Met443Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102627205A>T	NCI-TCGA
SUFU	Q9UMX1	p.Glu445Asp	COSM5472962	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102627213G>T	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Glu445Lys	rs556707582	missense variant	-	NC_000010.11:g.102627211G>A	1000Genomes,ExAC,gnomAD
SUFU	Q9UMX1	p.Glu448Lys	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102627220G>A	NCI-TCGA
SUFU	Q9UMX1	p.Asp449Glu	RCV000707192	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102627225T>G	ClinVar
SUFU	Q9UMX1	p.Ser452Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102627233C>A	NCI-TCGA
SUFU	Q9UMX1	p.Glu454Gln	rs1383666584	missense variant	-	NC_000010.11:g.102627238G>C	gnomAD
SUFU	Q9UMX1	p.Lys457Ile	rs947720538	missense variant	-	NC_000010.11:g.102630070A>T	TOPMed,gnomAD
SUFU	Q9UMX1	p.Lys457Arg	rs947720538	missense variant	-	NC_000010.11:g.102630070A>G	TOPMed,gnomAD
SUFU	Q9UMX1	p.Leu458Arg	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102630073T>G	NCI-TCGA
SUFU	Q9UMX1	p.Lys460Arg	RCV000545540	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102630079A>G	ClinVar
SUFU	Q9UMX1	p.Lys460Arg	RCV000763644	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102630079A>G	ClinVar
SUFU	Q9UMX1	p.Lys460Arg	rs778125780	missense variant	-	NC_000010.11:g.102630079A>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Lys460Arg	RCV000561960	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102630079A>G	ClinVar
SUFU	Q9UMX1	p.Glu461Gln	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102630081G>C	NCI-TCGA
SUFU	Q9UMX1	p.Ser463Gly	rs747617835	missense variant	-	NC_000010.11:g.102630087A>G	ExAC,gnomAD
SUFU	Q9UMX1	p.Ser463Asn	rs147404195	missense variant	-	NC_000010.11:g.102630088G>A	ESP,ExAC,gnomAD
SUFU	Q9UMX1	p.Glu466Lys	COSM3751497	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102630096G>A	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Lys467Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102630101G>C	NCI-TCGA
SUFU	Q9UMX1	p.Lys467Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102630101G>T	NCI-TCGA
SUFU	Q9UMX1	p.Lys470Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.102630110G>T	NCI-TCGA
SUFU	Q9UMX1	p.Pro475Leu	rs1267387394	missense variant	-	NC_000010.11:g.102630124C>T	gnomAD
SUFU	Q9UMX1	p.Asp476Val	COSM4925000	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.102630127A>T	NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Asp476Glu	rs777069460	missense variant	-	NC_000010.11:g.102630128C>A	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Val477Met	rs1060501117	missense variant	-	NC_000010.11:g.102630129G>A	gnomAD
SUFU	Q9UMX1	p.Val477Met	RCV000457004	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102630129G>A	ClinVar
SUFU	Q9UMX1	p.Phe479Leu	rs768454343	missense variant	-	NC_000010.11:g.102630137C>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Ser481Asn	VAR_080428	Missense	-	-	UniProt
SUFU	Q9UMX1	p.Pro482Leu	RCV000567793	missense variant	Hereditary cancer-predisposing syndrome	NC_000010.11:g.102630145C>T	ClinVar
SUFU	Q9UMX1	p.Pro482Arg	rs765358771	missense variant	-	NC_000010.11:g.102630145C>G	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Pro482Leu	rs765358771	missense variant	-	NC_000010.11:g.102630145C>T	NCI-TCGA,NCI-TCGA Cosmic
SUFU	Q9UMX1	p.Pro482Leu	rs765358771	missense variant	-	NC_000010.11:g.102630145C>T	ExAC,TOPMed,gnomAD
SUFU	Q9UMX1	p.Leu483Pro	RCV000458099	missense variant	Gorlin syndrome (BCNS)	NC_000010.11:g.102630148T>C	ClinVar
SUFU	Q9UMX1	p.Leu483Pro	rs1060501115	missense variant	-	NC_000010.11:g.102630148T>C	-
SUFU	Q9UMX1	p.Ter485Glu	rs941755884	stop lost	-	NC_000010.11:g.102630153T>G	TOPMed
FZD1	Q9UP38	p.Ala2Val	rs1467211914	missense variant	-	NC_000007.14:g.91264885C>T	gnomAD
FZD1	Q9UP38	p.Ala2Ser	rs1303955165	missense variant	-	NC_000007.14:g.91264884G>T	TOPMed
FZD1	Q9UP38	p.Ala2Thr	rs1303955165	missense variant	-	NC_000007.14:g.91264884G>A	TOPMed
FZD1	Q9UP38	p.Ala6Glu	rs909653277	missense variant	-	NC_000007.14:g.91264897C>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Ala6Val	rs909653277	missense variant	-	NC_000007.14:g.91264897C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Lys8Glu	rs938351976	missense variant	-	NC_000007.14:g.91264902A>G	gnomAD
FZD1	Q9UP38	p.Lys8Ter	rs938351976	stop gained	-	NC_000007.14:g.91264902A>T	gnomAD
FZD1	Q9UP38	p.Ser10Thr	rs750107627	missense variant	-	NC_000007.14:g.91264908T>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg11Gln	rs762530466	missense variant	-	NC_000007.14:g.91264912G>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg11Pro	rs762530466	missense variant	-	NC_000007.14:g.91264912G>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala12Gly	rs1014467401	missense variant	-	NC_000007.14:g.91264915C>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Ala12Val	rs1014467401	missense variant	-	NC_000007.14:g.91264915C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Ala13Thr	rs1441813156	missense variant	-	NC_000007.14:g.91264917G>A	gnomAD
FZD1	Q9UP38	p.Gly14Ser	rs765901117	missense variant	-	NC_000007.14:g.91264920G>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly15Ser	rs1446610778	missense variant	-	NC_000007.14:g.91264923G>A	gnomAD
FZD1	Q9UP38	p.Gly16Asp	rs755525834	missense variant	-	NC_000007.14:g.91264927G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Gly16Ser	rs1194238539	missense variant	-	NC_000007.14:g.91264926G>A	TOPMed
FZD1	Q9UP38	p.Ala17Thr	rs1420406058	missense variant	-	NC_000007.14:g.91264929G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Ala17Gly	rs1204031730	missense variant	-	NC_000007.14:g.91264930C>G	TOPMed
FZD1	Q9UP38	p.Ser18Arg	rs1222098993	missense variant	-	NC_000007.14:g.91264934C>G	TOPMed
FZD1	Q9UP38	p.Ser18Gly	rs1257363545	missense variant	-	NC_000007.14:g.91264932A>G	TOPMed
FZD1	Q9UP38	p.Leu21Ile	rs887932162	missense variant	-	NC_000007.14:g.91264941C>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Cys22Tyr	rs753069708	missense variant	-	NC_000007.14:g.91264945G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Ala23Val	rs1342646410	missense variant	-	NC_000007.14:g.91264948C>T	gnomAD
FZD1	Q9UP38	p.Gly24Arg	rs1444030438	missense variant	-	NC_000007.14:g.91264950G>A	gnomAD
FZD1	Q9UP38	p.Gly24Glu	rs1002096196	missense variant	-	NC_000007.14:g.91264951G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Ala25Gly	rs1027439486	missense variant	-	NC_000007.14:g.91264954C>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Ala25Val	rs1027439486	missense variant	-	NC_000007.14:g.91264954C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Leu26Arg	rs1396651918	missense variant	-	NC_000007.14:g.91264957T>G	TOPMed
FZD1	Q9UP38	p.Ala28Thr	rs1395872839	missense variant	-	NC_000007.14:g.91264962G>A	gnomAD
FZD1	Q9UP38	p.Arg29Pro	rs1428274719	missense variant	-	NC_000007.14:g.91264966G>C	TOPMed
FZD1	Q9UP38	p.Ala31Val	rs1171306492	missense variant	-	NC_000007.14:g.91264972C>T	TOPMed
FZD1	Q9UP38	p.Ala31Thr	rs1257931729	missense variant	-	NC_000007.14:g.91264971G>A	gnomAD
FZD1	Q9UP38	p.Glu33Lys	rs757506473	missense variant	-	NC_000007.14:g.91264977G>A	ExAC
FZD1	Q9UP38	p.Glu33Gly	rs779185373	missense variant	-	NC_000007.14:g.91264978A>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly34Ser	rs745913961	missense variant	-	NC_000007.14:g.91264980G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Gly36Arg	rs1376049227	missense variant	-	NC_000007.14:g.91264986G>C	gnomAD
FZD1	Q9UP38	p.Gly36Arg	rs1376049227	missense variant	-	NC_000007.14:g.91264986G>A	gnomAD
FZD1	Q9UP38	p.Ala38Thr	rs1257860494	missense variant	-	NC_000007.14:g.91264992G>A	TOPMed
FZD1	Q9UP38	p.Gly39Ser	rs1461146482	missense variant	-	NC_000007.14:g.91264995G>A	TOPMed
FZD1	Q9UP38	p.Gly39Asp	rs1465925703	missense variant	-	NC_000007.14:g.91264996G>A	gnomAD
FZD1	Q9UP38	p.Arg41His	rs1464374630	missense variant	-	NC_000007.14:g.91265002G>A	gnomAD
FZD1	Q9UP38	p.Arg42His	rs1331148633	missense variant	-	NC_000007.14:g.91265005G>A	gnomAD
FZD1	Q9UP38	p.Arg42Cys	rs1200891699	missense variant	-	NC_000007.14:g.91265004C>T	TOPMed
FZD1	Q9UP38	p.Arg43His	rs997958051	missense variant	-	NC_000007.14:g.91265008G>A	TOPMed
FZD1	Q9UP38	p.Arg43Cys	rs965671131	missense variant	-	NC_000007.14:g.91265007C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Pro44Arg	rs776620932	missense variant	-	NC_000007.14:g.91265011C>G	ExAC,TOPMed
FZD1	Q9UP38	p.Pro44Ser	rs1342295604	missense variant	-	NC_000007.14:g.91265010C>T	TOPMed
FZD1	Q9UP38	p.Asp47Glu	rs1401300758	missense variant	-	NC_000007.14:g.91265021C>A	TOPMed
FZD1	Q9UP38	p.Asp47Gly	rs1452108003	missense variant	-	NC_000007.14:g.91265020A>G	TOPMed
FZD1	Q9UP38	p.Pro48Thr	rs554909047	missense variant	-	NC_000007.14:g.91265022C>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Pro48Ser	rs554909047	missense variant	-	NC_000007.14:g.91265022C>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg49Gln	rs1332682566	missense variant	-	NC_000007.14:g.91265026G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Ala52Pro	rs1472847568	missense variant	-	NC_000007.14:g.91265034G>C	TOPMed
FZD1	Q9UP38	p.Arg53His	rs1257712065	missense variant	-	NC_000007.14:g.91265038G>A	gnomAD
FZD1	Q9UP38	p.Leu56Met	rs1258542871	missense variant	-	NC_000007.14:g.91265046C>A	gnomAD
FZD1	Q9UP38	p.Leu57Val	rs1458371265	missense variant	-	NC_000007.14:g.91265049C>G	gnomAD
FZD1	Q9UP38	p.Leu58Pro	rs1179180454	missense variant	-	NC_000007.14:g.91265053T>C	gnomAD
FZD1	Q9UP38	p.Leu59Ile	rs772947349	missense variant	-	NC_000007.14:g.91265055C>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Leu59Phe	rs772947349	missense variant	-	NC_000007.14:g.91265055C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Leu61Val	rs979669443	missense variant	-	NC_000007.14:g.91265061C>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Leu61Met	rs979669443	missense variant	-	NC_000007.14:g.91265061C>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Leu61Pro	rs1199739561	missense variant	-	NC_000007.14:g.91265062T>C	gnomAD
FZD1	Q9UP38	p.Ala64Pro	rs142085794	missense variant	-	NC_000007.14:g.91265070G>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala64Thr	rs142085794	missense variant	-	NC_000007.14:g.91265070G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Leu68Val	rs1358572204	missense variant	-	NC_000007.14:g.91265082C>G	TOPMed
FZD1	Q9UP38	p.Gly69Ala	rs891811319	missense variant	-	NC_000007.14:g.91265086G>C	TOPMed
FZD1	Q9UP38	p.Val70Phe	rs1438208600	missense variant	-	NC_000007.14:g.91265088G>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Arg71Pro	rs977241948	missense variant	-	NC_000007.14:g.91265092G>C	gnomAD
FZD1	Q9UP38	p.Arg71Trp	rs574691354	missense variant	-	NC_000007.14:g.91265091C>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala72Thr	rs1311686668	missense variant	-	NC_000007.14:g.91265094G>A	TOPMed
FZD1	Q9UP38	p.Ala74Glu	rs557713242	missense variant	-	NC_000007.14:g.91265101C>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala75Val	rs1028239110	missense variant	-	NC_000007.14:g.91265104C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Gly78Ala	rs1389326253	missense variant	-	NC_000007.14:g.91265113G>C	TOPMed,gnomAD
FZD1	Q9UP38	p.Gly80Arg	rs767964823	missense variant	-	NC_000007.14:g.91265118G>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gln81His	rs1302817813	missense variant	-	NC_000007.14:g.91265123G>T	gnomAD
FZD1	Q9UP38	p.Pro83Ser	rs1004645902	missense variant	-	NC_000007.14:g.91265127C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Gly84Arg	rs1278536573	missense variant	-	NC_000007.14:g.91265130G>A	gnomAD
FZD1	Q9UP38	p.Pro85Leu	rs1014656110	missense variant	-	NC_000007.14:g.91265134C>T	TOPMed
FZD1	Q9UP38	p.Gly86Arg	rs756511034	missense variant	-	NC_000007.14:g.91265136G>A	ExAC
FZD1	Q9UP38	p.Pro89Leu	rs754232711	missense variant	-	NC_000007.14:g.91265146C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Pro93Leu	NCI-TCGA novel	insertion	-	NC_000007.14:g.91265158_91265159insGCT	NCI-TCGA
FZD1	Q9UP38	p.Gln94Pro	rs563575931	missense variant	-	NC_000007.14:g.91265161A>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gln94His	rs529145118	missense variant	-	NC_000007.14:g.91265162G>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gln95Ter	rs1193581660	stop gained	-	NC_000007.14:g.91265163C>T	gnomAD
FZD1	Q9UP38	p.Gln95Pro	rs779934443	missense variant	-	NC_000007.14:g.91265164A>C	ExAC,gnomAD
FZD1	Q9UP38	p.Gln96Arg	rs769565425	missense variant	-	NC_000007.14:g.91265167A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Gln97His	rs1403826346	missense variant	-	NC_000007.14:g.91265171G>C	TOPMed
FZD1	Q9UP38	p.Ser98Arg	rs1367499438	missense variant	-	NC_000007.14:g.91265174C>G	gnomAD
FZD1	Q9UP38	p.Gly99Arg	rs773037088	missense variant	-	NC_000007.14:g.91265175G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Gly99Glu	rs1360544877	missense variant	-	NC_000007.14:g.91265176G>A	TOPMed
FZD1	Q9UP38	p.Tyr102Cys	rs749049302	missense variant	-	NC_000007.14:g.91265185A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Asn103His	rs770635483	missense variant	-	NC_000007.14:g.91265187A>C	ExAC,gnomAD
FZD1	Q9UP38	p.Asn103Ser	rs375051170	missense variant	-	NC_000007.14:g.91265188A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly104Ser	rs1311829566	missense variant	-	NC_000007.14:g.91265190G>A	gnomAD
FZD1	Q9UP38	p.Glu105Lys	rs959977879	missense variant	-	NC_000007.14:g.91265193G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Glu105Asp	rs1406776578	missense variant	-	NC_000007.14:g.91265195G>C	TOPMed
FZD1	Q9UP38	p.Glu105Gln	rs959977879	missense variant	-	NC_000007.14:g.91265193G>C	TOPMed,gnomAD
FZD1	Q9UP38	p.Arg106Gln	rs1487368309	missense variant	-	NC_000007.14:g.91265197G>A	gnomAD
FZD1	Q9UP38	p.Arg106Gly	rs759052167	missense variant	-	NC_000007.14:g.91265196C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg106Trp	rs759052167	missense variant	-	NC_000007.14:g.91265196C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly107Val	rs767058121	missense variant	-	NC_000007.14:g.91265200G>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly107Ala	rs767058121	missense variant	-	NC_000007.14:g.91265200G>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ile108Val	rs1487159468	missense variant	-	NC_000007.14:g.91265202A>G	gnomAD
FZD1	Q9UP38	p.Ile108Asn	rs774814084	missense variant	-	NC_000007.14:g.91265203T>A	ExAC,gnomAD
FZD1	Q9UP38	p.Ser109Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265206C>G	NCI-TCGA
FZD1	Q9UP38	p.Val110Asp	rs754322513	missense variant	-	NC_000007.14:g.91265209T>A	ExAC,gnomAD
FZD1	Q9UP38	p.Val110Gly	rs754322513	missense variant	-	NC_000007.14:g.91265209T>G	ExAC,gnomAD
FZD1	Q9UP38	p.His113Asp	rs1446684619	missense variant	-	NC_000007.14:g.91265217C>G	TOPMed
FZD1	Q9UP38	p.Gly114Asp	rs751566731	missense variant	-	NC_000007.14:g.91265221G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Gly114Asp	rs751566731	missense variant	-	NC_000007.14:g.91265221G>A	NCI-TCGA,NCI-TCGA Cosmic
FZD1	Q9UP38	p.Tyr115Phe	rs988874488	missense variant	-	NC_000007.14:g.91265224A>T	TOPMed
FZD1	Q9UP38	p.Pro118Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265232C>T	NCI-TCGA
FZD1	Q9UP38	p.Ile119Asn	rs749138157	missense variant	-	NC_000007.14:g.91265236T>A	ExAC,gnomAD
FZD1	Q9UP38	p.Ile119Val	rs777680747	missense variant	-	NC_000007.14:g.91265235A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Pro122Gln	rs1453604982	missense variant	-	NC_000007.14:g.91265245C>A	gnomAD
FZD1	Q9UP38	p.Pro122Leu	rs1453604982	missense variant	-	NC_000007.14:g.91265245C>T	gnomAD
FZD1	Q9UP38	p.Asp126Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265257A>T	NCI-TCGA
FZD1	Q9UP38	p.Ala128Val	rs149357966	missense variant	-	NC_000007.14:g.91265263C>T	ESP,ExAC,gnomAD
FZD1	Q9UP38	p.Asn130Ser	rs1319234441	missense variant	-	NC_000007.14:g.91265269A>G	gnomAD
FZD1	Q9UP38	p.Asn130Lys	rs1344281621	missense variant	-	NC_000007.14:g.91265270C>A	TOPMed
FZD1	Q9UP38	p.Ile133Thr	rs1208654788	missense variant	-	NC_000007.14:g.91265278T>C	gnomAD
FZD1	Q9UP38	p.Ile133Met	rs1255701930	missense variant	-	NC_000007.14:g.91265279C>G	gnomAD
FZD1	Q9UP38	p.Leu137Val	rs775107631	missense variant	-	NC_000007.14:g.91265289C>G	ExAC,gnomAD
FZD1	Q9UP38	p.Gly139Val	rs769346857	missense variant	-	NC_000007.14:g.91265296G>T	ExAC,gnomAD
FZD1	Q9UP38	p.His140Gln	rs1427554766	missense variant	-	NC_000007.14:g.91265300C>A	TOPMed
FZD1	Q9UP38	p.Thr141Met	rs1176154961	missense variant	-	NC_000007.14:g.91265302C>T	TOPMed
FZD1	Q9UP38	p.Asn142His	rs777293881	missense variant	-	NC_000007.14:g.91265304A>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly147Asp	COSM1452732	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265320G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Glu149Gln	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265325G>C	NCI-TCGA
FZD1	Q9UP38	p.His151Pro	rs1470820699	missense variant	-	NC_000007.14:g.91265332A>C	gnomAD
FZD1	Q9UP38	p.Phe153Val	rs1238287774	missense variant	-	NC_000007.14:g.91265337T>G	TOPMed
FZD1	Q9UP38	p.Pro155Leu	rs766475224	missense variant	-	NC_000007.14:g.91265344C>T	ExAC
FZD1	Q9UP38	p.Lys158Asn	COSM3412464	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265354A>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Val159Met	rs755035659	missense variant	-	NC_000007.14:g.91265355G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Val159Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265356T>G	NCI-TCGA
FZD1	Q9UP38	p.Ser162Phe	rs1212441651	missense variant	-	NC_000007.14:g.91265365C>T	TOPMed
FZD1	Q9UP38	p.Lys166Arg	rs745620349	missense variant	-	NC_000007.14:g.91265377A>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Lys166Arg	rs745620349	missense variant	-	NC_000007.14:g.91265377A>G	NCI-TCGA,NCI-TCGA Cosmic
FZD1	Q9UP38	p.Phe167Leu	rs771826054	missense variant	-	NC_000007.14:g.91265381C>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Leu169Pro	rs1324941364	missense variant	-	NC_000007.14:g.91265386T>C	gnomAD
FZD1	Q9UP38	p.Ser171Phe	COSM1452733	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265392C>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Ala174Glu	rs746616682	missense variant	-	NC_000007.14:g.91265401C>A	ExAC,gnomAD
FZD1	Q9UP38	p.Pro175Leu	rs1456999721	missense variant	-	NC_000007.14:g.91265404C>T	gnomAD
FZD1	Q9UP38	p.Val176Ala	rs937596409	missense variant	-	NC_000007.14:g.91265407T>C	TOPMed
FZD1	Q9UP38	p.Cys177Gly	rs762437358	missense variant	-	NC_000007.14:g.91265409T>G	ExAC,gnomAD
FZD1	Q9UP38	p.Val179Leu	rs773662622	missense variant	-	NC_000007.14:g.91265415G>C	ExAC,gnomAD
FZD1	Q9UP38	p.Arg188His	rs757226244	missense variant	-	NC_000007.14:g.91265443G>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg188Cys	rs1466437511	missense variant	-	NC_000007.14:g.91265442C>T	TOPMed
FZD1	Q9UP38	p.Arg188Leu	rs757226244	missense variant	-	NC_000007.14:g.91265443G>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg188Pro	rs757226244	missense variant	-	NC_000007.14:g.91265443G>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg188Cys	rs1466437511	missense variant	-	NC_000007.14:g.91265442C>T	NCI-TCGA
FZD1	Q9UP38	p.Ser189Pro	rs200651234	missense variant	-	NC_000007.14:g.91265445T>C	gnomAD
FZD1	Q9UP38	p.Leu190Gln	rs1274652473	missense variant	-	NC_000007.14:g.91265449T>A	gnomAD
FZD1	Q9UP38	p.Glu192Lys	rs1220181607	missense variant	-	NC_000007.14:g.91265454G>A	gnomAD
FZD1	Q9UP38	p.Glu192Gln	rs1220181607	missense variant	-	NC_000007.14:g.91265454G>C	gnomAD
FZD1	Q9UP38	p.Arg193Ser	rs746687511	missense variant	-	NC_000007.14:g.91265457C>A	ExAC,gnomAD
FZD1	Q9UP38	p.Arg193Gly	rs746687511	missense variant	-	NC_000007.14:g.91265457C>G	ExAC,gnomAD
FZD1	Q9UP38	p.Arg193Leu	rs780894315	missense variant	-	NC_000007.14:g.91265458G>T	ExAC,gnomAD
FZD1	Q9UP38	p.Ala194Ser	rs1185499359	missense variant	-	NC_000007.14:g.91265460G>T	TOPMed
FZD1	Q9UP38	p.Ala194Val	rs770493888	missense variant	-	NC_000007.14:g.91265461C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Arg195His	COSM3995736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265464G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gln196Arg	rs1421872447	missense variant	-	NC_000007.14:g.91265467A>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Leu201Ile	rs1407256117	missense variant	-	NC_000007.14:g.91265481C>A	gnomAD
FZD1	Q9UP38	p.Met202Val	rs1340503008	missense variant	-	NC_000007.14:g.91265484A>G	gnomAD
FZD1	Q9UP38	p.Phe205Leu	rs757876150	missense variant	-	NC_000007.14:g.91265495C>G	ExAC,gnomAD
FZD1	Q9UP38	p.Gln208Pro	rs1227396990	missense variant	-	NC_000007.14:g.91265503A>C	gnomAD
FZD1	Q9UP38	p.Gln208Arg	rs1227396990	missense variant	-	NC_000007.14:g.91265503A>G	gnomAD
FZD1	Q9UP38	p.Gln208Ter	rs759776876	stop gained	-	NC_000007.14:g.91265502C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Thr212Met	rs1361012717	missense variant	-	NC_000007.14:g.91265515C>T	gnomAD
FZD1	Q9UP38	p.Thr212Pro	rs1327013250	missense variant	-	NC_000007.14:g.91265514A>C	gnomAD
FZD1	Q9UP38	p.Lys214Thr	rs1262354665	missense variant	-	NC_000007.14:g.91265521A>C	gnomAD
FZD1	Q9UP38	p.Glu216Gly	rs375615564	missense variant	-	NC_000007.14:g.91265527A>G	ESP,TOPMed
FZD1	Q9UP38	p.Lys217Glu	rs1447552283	missense variant	-	NC_000007.14:g.91265529A>G	gnomAD
FZD1	Q9UP38	p.Pro219Leu	rs764174904	missense variant	-	NC_000007.14:g.91265536C>T	ExAC,gnomAD
FZD1	Q9UP38	p.His221Tyr	rs1380171458	missense variant	-	NC_000007.14:g.91265541C>T	TOPMed
FZD1	Q9UP38	p.Gly222Val	rs1471896225	missense variant	-	NC_000007.14:g.91265545G>T	gnomAD
FZD1	Q9UP38	p.Glu225Gln	rs953040877	missense variant	-	NC_000007.14:g.91265553G>C	TOPMed,gnomAD
FZD1	Q9UP38	p.Leu226Val	rs1426604246	missense variant	-	NC_000007.14:g.91265556C>G	gnomAD
FZD1	Q9UP38	p.Gln230Arg	rs369203224	missense variant	-	NC_000007.14:g.91265569A>G	ESP,ExAC,gnomAD
FZD1	Q9UP38	p.Thr232Lys	rs758313232	missense variant	-	NC_000007.14:g.91265575C>A	ExAC,gnomAD
FZD1	Q9UP38	p.Thr232Met	rs758313232	missense variant	-	NC_000007.14:g.91265575C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Ser233Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265577T>C	NCI-TCGA
FZD1	Q9UP38	p.Thr237Asn	rs1315337038	missense variant	-	NC_000007.14:g.91265590C>A	gnomAD
FZD1	Q9UP38	p.Thr239Met	rs780990701	missense variant	-	NC_000007.14:g.91265596C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Pro240Leu	rs373279227	missense variant	-	NC_000007.14:g.91265599C>T	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Leu243Val	rs1441658373	missense variant	-	NC_000007.14:g.91265607C>G	gnomAD
FZD1	Q9UP38	p.Pro244Leu	rs1184026542	missense variant	-	NC_000007.14:g.91265611C>T	gnomAD
FZD1	Q9UP38	p.Phe246Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265618C>G	NCI-TCGA
FZD1	Q9UP38	p.Trp247Cys	rs771421343	missense variant	-	NC_000007.14:g.91265621G>T	ExAC,gnomAD
FZD1	Q9UP38	p.Trp247Arg	rs377303160	missense variant	-	NC_000007.14:g.91265619T>C	ESP,gnomAD
FZD1	Q9UP38	p.Thr248Ile	rs1384880200	missense variant	-	NC_000007.14:g.91265623C>T	TOPMed
FZD1	Q9UP38	p.Ser249Asn	rs956567871	missense variant	-	NC_000007.14:g.91265626G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Asn250Ser	rs1400451046	missense variant	-	NC_000007.14:g.91265629A>G	gnomAD
FZD1	Q9UP38	p.Pro251Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265631C>A	NCI-TCGA
FZD1	Q9UP38	p.Gln252Leu	rs775700785	missense variant	-	NC_000007.14:g.91265635A>T	ExAC,gnomAD
FZD1	Q9UP38	p.Gln252Lys	rs772338017	missense variant	-	NC_000007.14:g.91265634C>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gln252Glu	rs772338017	missense variant	-	NC_000007.14:g.91265634C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gln252Arg	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265635A>G	NCI-TCGA
FZD1	Q9UP38	p.Gly254Asp	rs776721357	missense variant	-	NC_000007.14:g.91265641G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Gly254Arg	rs768647155	missense variant	-	NC_000007.14:g.91265640G>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly255Ser	rs1335868430	missense variant	-	NC_000007.14:g.91265643G>A	gnomAD
FZD1	Q9UP38	p.Gly255Asp	rs1480296118	missense variant	-	NC_000007.14:g.91265644G>A	TOPMed
FZD1	Q9UP38	p.Gly255Asp	rs1480296118	missense variant	-	NC_000007.14:g.91265644G>A	NCI-TCGA
FZD1	Q9UP38	p.Gly256Glu	rs987926317	missense variant	-	NC_000007.14:g.91265647G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Gly257Glu	rs762843825	missense variant	-	NC_000007.14:g.91265650G>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg259Pro	rs766305637	missense variant	-	NC_000007.14:g.91265656G>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly261Ser	rs1484574228	missense variant	-	NC_000007.14:g.91265661G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Gly261Arg	rs1484574228	missense variant	-	NC_000007.14:g.91265661G>C	TOPMed,gnomAD
FZD1	Q9UP38	p.Gly261Asp	rs759395222	missense variant	-	NC_000007.14:g.91265662G>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly261Val	rs759395222	missense variant	-	NC_000007.14:g.91265662G>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Phe262Leu	rs1196989236	missense variant	-	NC_000007.14:g.91265664T>C	gnomAD
FZD1	Q9UP38	p.Pro263Leu	rs1305449013	missense variant	-	NC_000007.14:g.91265668C>T	TOPMed
FZD1	Q9UP38	p.Gly264Ala	rs753366851	missense variant	-	NC_000007.14:g.91265671G>C	ExAC,gnomAD
FZD1	Q9UP38	p.Gly264Glu	rs753366851	missense variant	-	NC_000007.14:g.91265671G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Gly265Asp	rs199856015	missense variant	-	NC_000007.14:g.91265674G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly265Val	rs199856015	missense variant	-	NC_000007.14:g.91265674G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly265AlaPheSerTerUnkUnkUnk	COSM4685950	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.91265669G>-	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gly267Arg	rs1408766136	missense variant	-	NC_000007.14:g.91265679G>C	gnomAD
FZD1	Q9UP38	p.Gly267Asp	rs772427888	missense variant	-	NC_000007.14:g.91265680G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Ser269Trp	rs747214552	missense variant	-	NC_000007.14:g.91265686C>G	ExAC,gnomAD
FZD1	Q9UP38	p.Arg271Leu	rs768896364	missense variant	-	NC_000007.14:g.91265692G>T	ExAC,gnomAD
FZD1	Q9UP38	p.Gly272Ser	rs1156717624	missense variant	-	NC_000007.14:g.91265694G>A	TOPMed
FZD1	Q9UP38	p.Lys273Thr	rs1418244473	missense variant	-	NC_000007.14:g.91265698A>C	TOPMed
FZD1	Q9UP38	p.Lys273Glu	rs1393609613	missense variant	-	NC_000007.14:g.91265697A>G	gnomAD
FZD1	Q9UP38	p.Ser275Phe	rs940876191	missense variant	-	NC_000007.14:g.91265704C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Ser275Pro	rs1429929419	missense variant	-	NC_000007.14:g.91265703T>C	TOPMed
FZD1	Q9UP38	p.Cys276Phe	rs1489639706	missense variant	-	NC_000007.14:g.91265707G>T	TOPMed
FZD1	Q9UP38	p.Cys276Trp	rs1284885739	missense variant	-	NC_000007.14:g.91265708C>G	gnomAD
FZD1	Q9UP38	p.Arg278Cys	rs770834506	missense variant	-	NC_000007.14:g.91265712C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Arg278His	rs1454134426	missense variant	-	NC_000007.14:g.91265713G>A	gnomAD
FZD1	Q9UP38	p.Ala279Ser	rs565335389	missense variant	-	NC_000007.14:g.91265715G>T	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala279Pro	rs565335389	missense variant	-	NC_000007.14:g.91265715G>C	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Leu280Phe	rs1205194443	missense variant	-	NC_000007.14:g.91265718C>T	TOPMed
FZD1	Q9UP38	p.Lys281Glu	rs1197620879	missense variant	-	NC_000007.14:g.91265721A>G	gnomAD
FZD1	Q9UP38	p.Lys281Arg	rs767453970	missense variant	-	NC_000007.14:g.91265722A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Val282Met	rs752492991	missense variant	-	NC_000007.14:g.91265724G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Ser284Phe	rs534451306	missense variant	-	NC_000007.14:g.91265731C>T	1000Genomes,ExAC,gnomAD
FZD1	Q9UP38	p.Asn287Ser	rs1170243185	missense variant	-	NC_000007.14:g.91265740A>G	gnomAD
FZD1	Q9UP38	p.Asn287Asp	rs763772148	missense variant	-	NC_000007.14:g.91265739A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Asn287Lys	rs1486672564	missense variant	-	NC_000007.14:g.91265741C>A	TOPMed
FZD1	Q9UP38	p.Asn287His	COSM3833447	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265739A>C	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Tyr288His	rs1373286616	missense variant	-	NC_000007.14:g.91265742T>C	gnomAD
FZD1	Q9UP38	p.Tyr288Cys	rs368609459	missense variant	-	NC_000007.14:g.91265743A>G	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.His289Asp	rs778327398	missense variant	-	NC_000007.14:g.91265745C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Phe290Leu	rs1036532382	missense variant	-	NC_000007.14:g.91265748T>C	TOPMed,gnomAD
FZD1	Q9UP38	p.Leu291Met	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265751C>A	NCI-TCGA
FZD1	Q9UP38	p.Gly292Ala	rs758851020	missense variant	-	NC_000007.14:g.91265755G>C	ExAC,gnomAD
FZD1	Q9UP38	p.Ala298Val	rs901971943	missense variant	-	NC_000007.14:g.91265773C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Pro302Leu	rs768823215	missense variant	-	NC_000007.14:g.91265785C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Pro302Gln	rs768823215	missense variant	-	NC_000007.14:g.91265785C>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Thr303Ile	rs781467339	missense variant	-	NC_000007.14:g.91265788C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Lys304Asn	rs1288456169	missense variant	-	NC_000007.14:g.91265792G>C	TOPMed
FZD1	Q9UP38	p.Tyr306Cys	rs1223388464	missense variant	-	NC_000007.14:g.91265797A>G	gnomAD
FZD1	Q9UP38	p.Tyr306Cys	rs1223388464	missense variant	-	NC_000007.14:g.91265797A>G	NCI-TCGA
FZD1	Q9UP38	p.Leu308His	rs1487632879	missense variant	-	NC_000007.14:g.91265803T>A	gnomAD
FZD1	Q9UP38	p.Leu308Phe	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265802C>T	NCI-TCGA
FZD1	Q9UP38	p.Met309Leu	rs998933986	missense variant	-	NC_000007.14:g.91265805A>C	TOPMed,gnomAD
FZD1	Q9UP38	p.Met309Val	rs998933986	missense variant	-	NC_000007.14:g.91265805A>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Met309Thr	rs773388012	missense variant	-	NC_000007.14:g.91265806T>C	ExAC,gnomAD
FZD1	Q9UP38	p.Tyr310Ser	rs1162294582	missense variant	-	NC_000007.14:g.91265809A>C	gnomAD
FZD1	Q9UP38	p.Tyr310Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265808T>G	NCI-TCGA
FZD1	Q9UP38	p.Pro313Ser	rs1428494939	missense variant	-	NC_000007.14:g.91265817C>T	TOPMed
FZD1	Q9UP38	p.Glu314Lys	rs1164977135	missense variant	-	NC_000007.14:g.91265820G>A	gnomAD
FZD1	Q9UP38	p.Glu314Val	rs1358536884	missense variant	-	NC_000007.14:g.91265821A>T	gnomAD
FZD1	Q9UP38	p.Glu315Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265824A>C	NCI-TCGA
FZD1	Q9UP38	p.Leu316Met	rs959913632	missense variant	-	NC_000007.14:g.91265826C>A	gnomAD
FZD1	Q9UP38	p.Leu316Val	rs959913632	missense variant	-	NC_000007.14:g.91265826C>G	gnomAD
FZD1	Q9UP38	p.Arg317Ser	rs367552951	missense variant	-	NC_000007.14:g.91265829C>A	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg317Cys	rs367552951	missense variant	-	NC_000007.14:g.91265829C>T	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg317Gly	rs367552951	missense variant	-	NC_000007.14:g.91265829C>G	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Thr321Ile	rs776348766	missense variant	-	NC_000007.14:g.91265842C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Thr321CysPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.91265788_91265789insCAAGGTGTATGGGCTCATGTACTTCGGGCCCGAGGAGCTGCGCTTCT	NCI-TCGA
FZD1	Q9UP38	p.Ile323Thr	rs545945483	missense variant	-	NC_000007.14:g.91265848T>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ile325Val	rs749909829	missense variant	-	NC_000007.14:g.91265853A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Val328Met	rs1215711547	missense variant	-	NC_000007.14:g.91265862G>A	gnomAD
FZD1	Q9UP38	p.Val328Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265862G>C	NCI-TCGA
FZD1	Q9UP38	p.Cys331Phe	rs758940744	missense variant	-	NC_000007.14:g.91265872G>T	ExAC,gnomAD
FZD1	Q9UP38	p.Ala332Val	rs766862839	missense variant	-	NC_000007.14:g.91265875C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Ser333Phe	rs751929647	missense variant	-	NC_000007.14:g.91265878C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Ser333Ala	rs1242108671	missense variant	-	NC_000007.14:g.91265877T>G	gnomAD
FZD1	Q9UP38	p.Thr337Ala	rs1377959136	missense variant	-	NC_000007.14:g.91265889A>G	gnomAD
FZD1	Q9UP38	p.Leu342Met	rs78712424	missense variant	-	NC_000007.14:g.91265904C>A	TOPMed
FZD1	Q9UP38	p.Leu342Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265905T>C	NCI-TCGA
FZD1	Q9UP38	p.Val343Met	rs3750146	missense variant	-	NC_000007.14:g.91265907G>A	UniProt,dbSNP
FZD1	Q9UP38	p.Val343Met	VAR_049290	missense variant	-	NC_000007.14:g.91265907G>A	UniProt
FZD1	Q9UP38	p.Val343Met	rs3750146	missense variant	-	NC_000007.14:g.91265907G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Met345Val	rs1335922942	missense variant	-	NC_000007.14:g.91265913A>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Arg346Gly	rs1324697796	missense variant	-	NC_000007.14:g.91265916C>G	TOPMed
FZD1	Q9UP38	p.Phe348Leu	rs1453673890	missense variant	-	NC_000007.14:g.91265922T>C	gnomAD
FZD1	Q9UP38	p.Glu352Lys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265934G>A	NCI-TCGA
FZD1	Q9UP38	p.Ile355Met	rs1371319481	missense variant	-	NC_000007.14:g.91265945C>G	gnomAD
FZD1	Q9UP38	p.Phe357Leu	rs139681941	missense variant	-	NC_000007.14:g.91265951C>G	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Phe357Ile	rs749347940	missense variant	-	NC_000007.14:g.91265949T>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Phe357Leu	rs749347940	missense variant	-	NC_000007.14:g.91265949T>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Phe357Ile	rs749347940	missense variant	-	NC_000007.14:g.91265949T>A	NCI-TCGA,NCI-TCGA Cosmic
FZD1	Q9UP38	p.Leu358Phe	rs374891047	missense variant	-	NC_000007.14:g.91265954G>C	ESP,ExAC,gnomAD
FZD1	Q9UP38	p.Ser359Cys	rs1262969470	missense variant	-	NC_000007.14:g.91265956C>G	gnomAD
FZD1	Q9UP38	p.Gly360Ser	rs746854638	missense variant	-	NC_000007.14:g.91265958G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Tyr362Cys	rs768525969	missense variant	-	NC_000007.14:g.91265965A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Thr363Lys	rs776239506	missense variant	-	NC_000007.14:g.91265968C>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Thr363Arg	rs776239506	missense variant	-	NC_000007.14:g.91265968C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Thr363Ala	rs1251690734	missense variant	-	NC_000007.14:g.91265967A>G	gnomAD
FZD1	Q9UP38	p.Thr363Met	rs776239506	missense variant	-	NC_000007.14:g.91265968C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala364Val	rs761499766	missense variant	-	NC_000007.14:g.91265971C>T	ExAC
FZD1	Q9UP38	p.Val367Met	rs556841355	missense variant	-	NC_000007.14:g.91265979G>A	1000Genomes,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala368Gly	rs772772421	missense variant	-	NC_000007.14:g.91265983C>G	ExAC,gnomAD
FZD1	Q9UP38	p.Ala368Thr	rs1177318264	missense variant	-	NC_000007.14:g.91265982G>A	gnomAD
FZD1	Q9UP38	p.Ala368Val	rs772772421	missense variant	-	NC_000007.14:g.91265983C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Tyr369His	COSM1452735	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91265985T>C	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Ile370Leu	rs1175373250	missense variant	-	NC_000007.14:g.91265988A>C	gnomAD
FZD1	Q9UP38	p.Ala371Val	rs1429742768	missense variant	-	NC_000007.14:g.91265992C>T	gnomAD
FZD1	Q9UP38	p.Gly372Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91265994G>A	NCI-TCGA
FZD1	Q9UP38	p.Phe373Val	rs752115856	missense variant	-	NC_000007.14:g.91265997T>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Phe373Leu	rs752115856	missense variant	-	NC_000007.14:g.91265997T>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Leu375Met	rs755402187	missense variant	-	NC_000007.14:g.91266003C>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Asp377Asn	rs143614174	missense variant	-	NC_000007.14:g.91266009G>A	ESP,ExAC,gnomAD
FZD1	Q9UP38	p.Asp377Asn	rs143614174	missense variant	-	NC_000007.14:g.91266009G>A	NCI-TCGA
FZD1	Q9UP38	p.Val379Met	rs1376149944	missense variant	-	NC_000007.14:g.91266015G>A	gnomAD
FZD1	Q9UP38	p.Asp383Glu	rs542894604	missense variant	-	NC_000007.14:g.91266029C>A	1000Genomes,ExAC,gnomAD
FZD1	Q9UP38	p.Asp383Asn	rs1222231459	missense variant	-	NC_000007.14:g.91266027G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Lys384Met	rs778137101	missense variant	-	NC_000007.14:g.91266031A>T	ExAC,gnomAD
FZD1	Q9UP38	p.Ala390Thr	rs778816712	missense variant	-	NC_000007.14:g.91266048G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Ala390Val	rs746987223	missense variant	-	NC_000007.14:g.91266049C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg391Gly	rs1487427379	missense variant	-	NC_000007.14:g.91266051C>G	gnomAD
FZD1	Q9UP38	p.Thr392Ile	rs768453043	missense variant	-	NC_000007.14:g.91266055C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Ala394Val	rs1481281808	missense variant	-	NC_000007.14:g.91266061C>T	gnomAD
FZD1	Q9UP38	p.Ala394Thr	rs781079161	missense variant	-	NC_000007.14:g.91266060G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Thr397Ile	rs1338011696	missense variant	-	NC_000007.14:g.91266070C>T	TOPMed
FZD1	Q9UP38	p.Thr403Ser	rs1250889976	missense variant	-	NC_000007.14:g.91266088C>G	TOPMed
FZD1	Q9UP38	p.Ile404Thr	rs747929584	missense variant	-	NC_000007.14:g.91266091T>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Leu405Val	rs1361919859	missense variant	-	NC_000007.14:g.91266093C>G	TOPMed
FZD1	Q9UP38	p.Met408Ile	rs762530569	missense variant	-	NC_000007.14:g.91266104G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Leu409Phe	rs559829750	missense variant	-	NC_000007.14:g.91266105C>T	1000Genomes,ExAC,gnomAD
FZD1	Q9UP38	p.Leu409His	rs528481255	missense variant	-	NC_000007.14:g.91266106T>A	1000Genomes,ExAC,gnomAD
FZD1	Q9UP38	p.Leu409Val	rs559829750	missense variant	-	NC_000007.14:g.91266105C>G	1000Genomes,ExAC,gnomAD
FZD1	Q9UP38	p.Tyr410Phe	rs767882639	missense variant	-	NC_000007.14:g.91266109A>T	ExAC
FZD1	Q9UP38	p.Ser413Arg	rs1338283514	missense variant	-	NC_000007.14:g.91266119C>G	gnomAD
FZD1	Q9UP38	p.Ser413Thr	rs201361207	missense variant	-	NC_000007.14:g.91266118G>C	1000Genomes,ExAC,gnomAD
FZD1	Q9UP38	p.Ser417Tyr	rs1274449796	missense variant	-	NC_000007.14:g.91266130C>A	gnomAD
FZD1	Q9UP38	p.Ser417Ala	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266129T>G	NCI-TCGA
FZD1	Q9UP38	p.Trp419Ter	rs1158451057	stop gained	-	NC_000007.14:g.91266136G>A	gnomAD
FZD1	Q9UP38	p.Ile422Met	rs754144425	missense variant	-	NC_000007.14:g.91266146C>G	ExAC,gnomAD
FZD1	Q9UP38	p.Ile422Asn	rs1166848848	missense variant	-	NC_000007.14:g.91266145T>A	TOPMed
FZD1	Q9UP38	p.Ile422AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000007.14:g.91266143_91266144insA	NCI-TCGA
FZD1	Q9UP38	p.Leu423Val	rs779097158	missense variant	-	NC_000007.14:g.91266147C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ser424Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266150T>C	NCI-TCGA
FZD1	Q9UP38	p.Ala430Glu	rs1269473134	missense variant	-	NC_000007.14:g.91266169C>A	gnomAD
FZD1	Q9UP38	p.Ala431Gly	rs1490838876	missense variant	-	NC_000007.14:g.91266172C>G	gnomAD
FZD1	Q9UP38	p.Met433Thr	rs1444400261	missense variant	-	NC_000007.14:g.91266178T>C	TOPMed
FZD1	Q9UP38	p.Met433Ile	rs1233884873	missense variant	-	NC_000007.14:g.91266179G>T	TOPMed
FZD1	Q9UP38	p.Trp435Ter	COSM3883253	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.91266185G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gly436Ser	rs1323741534	missense variant	-	NC_000007.14:g.91266186G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.His437Asn	rs1241320016	missense variant	-	NC_000007.14:g.91266189C>A	gnomAD
FZD1	Q9UP38	p.Ala439Thr	COSM1452736	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266195G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Ile440Phe	rs1436630593	missense variant	-	NC_000007.14:g.91266198A>T	TOPMed
FZD1	Q9UP38	p.Glu441Asp	rs1475167632	missense variant	-	NC_000007.14:g.91266203A>C	gnomAD
FZD1	Q9UP38	p.Glu441Lys	COSM5009080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266201G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Ala442Gly	rs780974515	missense variant	-	NC_000007.14:g.91266205C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala442Thr	rs1187357215	missense variant	-	NC_000007.14:g.91266204G>A	gnomAD
FZD1	Q9UP38	p.Ala451Ser	rs1361623397	missense variant	-	NC_000007.14:g.91266231G>T	TOPMed
FZD1	Q9UP38	p.Ala451Val	rs777508938	missense variant	-	NC_000007.14:g.91266232C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Ala451Thr	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266231G>A	NCI-TCGA
FZD1	Q9UP38	p.Ala453Ser	rs371877365	missense variant	-	NC_000007.14:g.91266237G>T	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala453Thr	rs371877365	missense variant	-	NC_000007.14:g.91266237G>A	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala453Val	COSM3698592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266238C>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Pro455Ser	COSM3883254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266243C>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Ile457Val	rs1326242104	missense variant	-	NC_000007.14:g.91266249A>G	gnomAD
FZD1	Q9UP38	p.Ile457Val	rs1326242104	missense variant	-	NC_000007.14:g.91266249A>G	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Ile457Asn	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266250T>A	NCI-TCGA
FZD1	Q9UP38	p.Leu463Val	COSM3883255	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266267C>G	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gln467Arg	rs772694278	missense variant	-	NC_000007.14:g.91266280A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Asp469Glu	rs776155751	missense variant	-	NC_000007.14:g.91266287C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Asp469Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266286A>G	NCI-TCGA
FZD1	Q9UP38	p.Gly470Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266289G>T	NCI-TCGA
FZD1	Q9UP38	p.Gly470Arg	rs565403094	missense variant	-	NC_000007.14:g.91266288G>C	1000Genomes,ExAC,gnomAD
FZD1	Q9UP38	p.Asp471Asn	rs371579888	missense variant	-	NC_000007.14:g.91266291G>A	gnomAD
FZD1	Q9UP38	p.Asp471His	rs371579888	missense variant	-	NC_000007.14:g.91266291G>C	gnomAD
FZD1	Q9UP38	p.Asp471Tyr	rs371579888	missense variant	-	NC_000007.14:g.91266291G>T	gnomAD
FZD1	Q9UP38	p.Val472Met	rs762131713	missense variant	-	NC_000007.14:g.91266294G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Leu473Pro	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266298T>C	NCI-TCGA
FZD1	Q9UP38	p.Gly475Arg	COSM3883256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266303G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Val476Ala	rs750570517	missense variant	-	NC_000007.14:g.91266307T>C	ExAC,gnomAD
FZD1	Q9UP38	p.Leu481Phe	rs1446935223	missense variant	-	NC_000007.14:g.91266321C>T	gnomAD
FZD1	Q9UP38	p.Asn482Lys	rs139621623	missense variant	-	NC_000007.14:g.91266326C>G	ESP,ExAC,gnomAD
FZD1	Q9UP38	p.Asn483Ser	rs755998616	missense variant	-	NC_000007.14:g.91266328A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Val484Met	rs1240879246	missense variant	-	NC_000007.14:g.91266330G>A	TOPMed
FZD1	Q9UP38	p.Asp485Val	rs777596824	missense variant	-	NC_000007.14:g.91266334A>T	ExAC,gnomAD
FZD1	Q9UP38	p.Asp485Gly	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266334A>G	NCI-TCGA
FZD1	Q9UP38	p.Ala486Thr	rs749053362	missense variant	-	NC_000007.14:g.91266336G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Ala486Pro	rs749053362	missense variant	-	NC_000007.14:g.91266336G>C	ExAC,gnomAD
FZD1	Q9UP38	p.Ala486Val	COSM602863	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266337C>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Arg488His	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266343G>A	NCI-TCGA
FZD1	Q9UP38	p.Arg488Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266343G>T	NCI-TCGA
FZD1	Q9UP38	p.Arg488Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266342C>T	NCI-TCGA
FZD1	Q9UP38	p.Phe490Leu	rs1315053320	missense variant	-	NC_000007.14:g.91266350C>G	gnomAD
FZD1	Q9UP38	p.Leu492Val	rs1236733468	missense variant	-	NC_000007.14:g.91266354C>G	gnomAD
FZD1	Q9UP38	p.Ala493Val	rs1333940133	missense variant	-	NC_000007.14:g.91266358C>T	TOPMed
FZD1	Q9UP38	p.Leu495Ile	rs771512876	missense variant	-	NC_000007.14:g.91266363C>A	ExAC,gnomAD
FZD1	Q9UP38	p.Val497Gly	rs114840294	missense variant	-	NC_000007.14:g.91266370T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Phe500Leu	rs200075522	missense variant	-	NC_000007.14:g.91266380T>G	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly502Ser	rs368484423	missense variant	-	NC_000007.14:g.91266384G>A	ESP,gnomAD
FZD1	Q9UP38	p.Gly502Asp	rs1230940676	missense variant	-	NC_000007.14:g.91266385G>A	gnomAD
FZD1	Q9UP38	p.Gly502Cys	rs368484423	missense variant	-	NC_000007.14:g.91266384G>T	ESP,gnomAD
FZD1	Q9UP38	p.Gly502Asp	rs1230940676	missense variant	-	NC_000007.14:g.91266385G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gly502Ser	rs368484423	missense variant	-	NC_000007.14:g.91266384G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gly502Cys	rs368484423	missense variant	-	NC_000007.14:g.91266384G>T	NCI-TCGA,NCI-TCGA Cosmic
FZD1	Q9UP38	p.Thr503Met	rs1271818016	missense variant	-	NC_000007.14:g.91266388C>T	gnomAD
FZD1	Q9UP38	p.Thr503Ser	rs762068983	missense variant	-	NC_000007.14:g.91266387A>T	ExAC,gnomAD
FZD1	Q9UP38	p.Leu506Val	rs1470830128	missense variant	-	NC_000007.14:g.91266396C>G	gnomAD
FZD1	Q9UP38	p.Leu507Met	rs763198469	missense variant	-	NC_000007.14:g.91266399C>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala508Val	rs766472938	missense variant	-	NC_000007.14:g.91266403C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Val511Leu	rs972769168	missense variant	-	NC_000007.14:g.91266411G>C	TOPMed
FZD1	Q9UP38	p.Val511Met	rs972769168	missense variant	-	NC_000007.14:g.91266411G>A	TOPMed
FZD1	Q9UP38	p.Leu513Phe	rs1222734623	missense variant	-	NC_000007.14:g.91266417C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Phe514Cys	rs757017279	missense variant	-	NC_000007.14:g.91266421T>G	ExAC,gnomAD
FZD1	Q9UP38	p.Arg515Cys	rs1281098311	missense variant	-	NC_000007.14:g.91266423C>T	gnomAD
FZD1	Q9UP38	p.Arg515His	rs778704573	missense variant	-	NC_000007.14:g.91266424G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Ile516Val	rs1223946909	missense variant	-	NC_000007.14:g.91266426A>G	gnomAD
FZD1	Q9UP38	p.Ile516Met	rs1263959327	missense variant	-	NC_000007.14:g.91266428C>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Arg517His	rs1347489084	missense variant	-	NC_000007.14:g.91266430G>A	gnomAD
FZD1	Q9UP38	p.Arg517Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266429C>T	NCI-TCGA
FZD1	Q9UP38	p.Ile519Val	rs892096663	missense variant	-	NC_000007.14:g.91266435A>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Met520Val	rs377524599	missense variant	-	NC_000007.14:g.91266438A>G	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Met520Ile	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266440G>A	NCI-TCGA
FZD1	Q9UP38	p.His522Leu	rs1447838105	missense variant	-	NC_000007.14:g.91266445A>T	TOPMed
FZD1	Q9UP38	p.Gly524Ala	rs746509834	missense variant	-	NC_000007.14:g.91266451G>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Lys526Asn	rs1177650649	missense variant	-	NC_000007.14:g.91266458G>T	gnomAD
FZD1	Q9UP38	p.Lys526Glu	rs769342553	missense variant	-	NC_000007.14:g.91266456A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Thr527Ile	rs1348199807	missense variant	-	NC_000007.14:g.91266460C>T	TOPMed
FZD1	Q9UP38	p.Thr527Ile	rs1348199807	missense variant	-	NC_000007.14:g.91266460C>T	NCI-TCGA
FZD1	Q9UP38	p.Glu528Ter	rs1009450887	stop gained	-	NC_000007.14:g.91266462G>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Glu528Val	rs1166739615	missense variant	-	NC_000007.14:g.91266463A>T	gnomAD
FZD1	Q9UP38	p.Glu528Gln	rs1009450887	missense variant	-	NC_000007.14:g.91266462G>C	TOPMed,gnomAD
FZD1	Q9UP38	p.Glu528Lys	rs1009450887	missense variant	-	NC_000007.14:g.91266462G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Met534Val	rs145464476	missense variant	-	NC_000007.14:g.91266480A>G	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Met534Ile	COSM485701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266482G>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Ile537Thr	rs763138579	missense variant	-	NC_000007.14:g.91266490T>C	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ile537Ser	rs763138579	missense variant	-	NC_000007.14:g.91266490T>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ser541Ile	rs766560413	missense variant	-	NC_000007.14:g.91266502G>T	ExAC,gnomAD
FZD1	Q9UP38	p.Val542Leu	rs759599050	missense variant	-	NC_000007.14:g.91266504G>T	ExAC,gnomAD
FZD1	Q9UP38	p.Val542Met	rs759599050	missense variant	-	NC_000007.14:g.91266504G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Leu543Val	rs564163822	missense variant	-	NC_000007.14:g.91266507C>G	gnomAD
FZD1	Q9UP38	p.Tyr544Phe	rs767529276	missense variant	-	NC_000007.14:g.91266511A>T	ExAC,gnomAD
FZD1	Q9UP38	p.Tyr544Ter	rs1473605714	stop gained	-	NC_000007.14:g.91266512C>A	gnomAD
FZD1	Q9UP38	p.Thr545Ala	rs1207442789	missense variant	-	NC_000007.14:g.91266513A>G	gnomAD
FZD1	Q9UP38	p.Thr545Ser	rs1290177855	missense variant	-	NC_000007.14:g.91266514C>G	gnomAD
FZD1	Q9UP38	p.Val546Leu	rs1200527235	missense variant	-	NC_000007.14:g.91266516G>C	gnomAD
FZD1	Q9UP38	p.Val546AlaPheSerTerUnkUnk	COSM1092846	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.91266515_91266516TG>-	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Ile550Val	rs753725473	missense variant	-	NC_000007.14:g.91266528A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Ile550Val	rs753725473	missense variant	-	NC_000007.14:g.91266528A>G	NCI-TCGA
FZD1	Q9UP38	p.Val551Ile	rs1002028473	missense variant	-	NC_000007.14:g.91266531G>A	TOPMed
FZD1	Q9UP38	p.Ala553Ser	rs757168229	missense variant	-	NC_000007.14:g.91266537G>T	ExAC,gnomAD
FZD1	Q9UP38	p.Ala553Ser	rs757168229	missense variant	-	NC_000007.14:g.91266537G>T	NCI-TCGA
FZD1	Q9UP38	p.Tyr555His	rs764988853	missense variant	-	NC_000007.14:g.91266543T>C	ExAC,gnomAD
FZD1	Q9UP38	p.Tyr555Ter	rs781169512	stop gained	-	NC_000007.14:g.91266545C>A	ExAC,gnomAD
FZD1	Q9UP38	p.Phe556Ser	rs202129840	missense variant	-	NC_000007.14:g.91266547T>C	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Phe556Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266548C>A	NCI-TCGA
FZD1	Q9UP38	p.Arg562Trp	rs1380692271	missense variant	-	NC_000007.14:g.91266564C>T	gnomAD
FZD1	Q9UP38	p.Arg562Gln	rs139043437	missense variant	-	NC_000007.14:g.91266565G>A	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Arg562Trp	rs1380692271	missense variant	-	NC_000007.14:g.91266564C>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Asp563His	rs1230692030	missense variant	-	NC_000007.14:g.91266567G>C	gnomAD
FZD1	Q9UP38	p.Asp563Tyr	COSM747604	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266567G>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gln564Ter	rs1359270698	stop gained	-	NC_000007.14:g.91266570C>T	gnomAD
FZD1	Q9UP38	p.Glu566Ala	COSM3883259	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266577A>C	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Arg567His	rs984834944	missense variant	-	NC_000007.14:g.91266580G>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Arg567Gly	rs147921120	missense variant	-	NC_000007.14:g.91266579C>G	1000Genomes,ExAC,gnomAD
FZD1	Q9UP38	p.Arg567Cys	rs147921120	missense variant	-	NC_000007.14:g.91266579C>T	1000Genomes,ExAC,gnomAD
FZD1	Q9UP38	p.Arg567Leu	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266580G>T	NCI-TCGA
FZD1	Q9UP38	p.Ser568Arg	rs367770320	missense variant	-	NC_000007.14:g.91266584C>G	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ser573Arg	rs770315530	missense variant	-	NC_000007.14:g.91266599C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ser573Cys	rs1204961180	missense variant	-	NC_000007.14:g.91266597A>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Ser576Cys	rs370079514	missense variant	-	NC_000007.14:g.91266606A>T	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Tyr577Asp	rs1267331657	missense variant	-	NC_000007.14:g.91266609T>G	TOPMed
FZD1	Q9UP38	p.Ile579Thr	rs771201635	missense variant	-	NC_000007.14:g.91266616T>C	ExAC,gnomAD
FZD1	Q9UP38	p.Ile579Val	rs749662690	missense variant	-	NC_000007.14:g.91266615A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Pro580Ser	rs1325637188	missense variant	-	NC_000007.14:g.91266618C>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Pro580Ser	rs1325637188	missense variant	-	NC_000007.14:g.91266618C>T	TOPMed
FZD1	Q9UP38	p.Pro582Ser	rs772172455	missense variant	-	NC_000007.14:g.91266624C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.His583Tyr	rs1405929513	missense variant	-	NC_000007.14:g.91266627C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.His583Pro	rs775615498	missense variant	-	NC_000007.14:g.91266628A>C	ExAC,gnomAD
FZD1	Q9UP38	p.Leu584Phe	rs141366978	missense variant	-	NC_000007.14:g.91266630C>T	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala586Glu	rs200835205	missense variant	-	NC_000007.14:g.91266637C>A	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Gly588Glu	rs752224375	missense variant	-	NC_000007.14:g.91266643G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Gly588Glu	rs752224375	missense variant	-	NC_000007.14:g.91266643G>A	NCI-TCGA,NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gly589Ala	rs778330881	missense variant	-	NC_000007.14:g.91266646G>C	ExAC,gnomAD
FZD1	Q9UP38	p.Ala590Thr	rs143330366	missense variant	-	NC_000007.14:g.91266648G>A	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala590Pro	rs143330366	missense variant	-	NC_000007.14:g.91266648G>C	ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ala590Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266649C>T	NCI-TCGA
FZD1	Q9UP38	p.Pro591Ser	rs779211016	missense variant	-	NC_000007.14:g.91266651C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.His593Tyr	rs746136687	missense variant	-	NC_000007.14:g.91266657C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Pro594Ser	rs772250118	missense variant	-	NC_000007.14:g.91266660C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Pro594Ala	rs772250118	missense variant	-	NC_000007.14:g.91266660C>G	ExAC,gnomAD
FZD1	Q9UP38	p.Pro595Arg	rs773202092	missense variant	-	NC_000007.14:g.91266664C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Pro595Ser	rs760794294	missense variant	-	NC_000007.14:g.91266663C>T	ExAC,gnomAD
FZD1	Q9UP38	p.Pro595Thr	rs760794294	missense variant	-	NC_000007.14:g.91266663C>A	ExAC,gnomAD
FZD1	Q9UP38	p.Ser597Gly	rs1159490971	missense variant	-	NC_000007.14:g.91266669A>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Pro598Gln	rs1413947382	missense variant	-	NC_000007.14:g.91266673C>A	TOPMed,gnomAD
FZD1	Q9UP38	p.Pro598Leu	rs1413947382	missense variant	-	NC_000007.14:g.91266673C>T	TOPMed,gnomAD
FZD1	Q9UP38	p.Pro598Arg	rs1413947382	missense variant	-	NC_000007.14:g.91266673C>G	TOPMed,gnomAD
FZD1	Q9UP38	p.Asp599Asn	rs1209255115	missense variant	-	NC_000007.14:g.91266675G>A	TOPMed
FZD1	Q9UP38	p.Phe600Leu	rs1334944246	missense variant	-	NC_000007.14:g.91266680C>G	gnomAD
FZD1	Q9UP38	p.Phe600Val	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266678T>G	NCI-TCGA
FZD1	Q9UP38	p.Thr601Met	rs766297031	missense variant	-	NC_000007.14:g.91266682C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Thr601Arg	rs766297031	missense variant	-	NC_000007.14:g.91266682C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Phe603Leu	rs1212277097	missense variant	-	NC_000007.14:g.91266687T>C	TOPMed
FZD1	Q9UP38	p.Met604Lys	rs1341074441	missense variant	-	NC_000007.14:g.91266691T>A	TOPMed
FZD1	Q9UP38	p.Lys606Arg	rs1371741004	missense variant	-	NC_000007.14:g.91266697A>G	gnomAD
FZD1	Q9UP38	p.Thr610Arg	rs752211281	missense variant	-	NC_000007.14:g.91266709C>G	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Thr610Ser	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266708A>T	NCI-TCGA
FZD1	Q9UP38	p.Thr610Met	rs752211281	missense variant	-	NC_000007.14:g.91266709C>T	ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Leu611Met	rs1289329882	missense variant	-	NC_000007.14:g.91266711C>A	gnomAD
FZD1	Q9UP38	p.Leu611Met	rs1289329882	missense variant	-	NC_000007.14:g.91266711C>A	NCI-TCGA
FZD1	Q9UP38	p.Gly614Asp	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266721G>A	NCI-TCGA
FZD1	Q9UP38	p.Ile615Val	rs1292178545	missense variant	-	NC_000007.14:g.91266723A>G	gnomAD
FZD1	Q9UP38	p.Thr616Pro	rs1443633951	missense variant	-	NC_000007.14:g.91266726A>C	TOPMed
FZD1	Q9UP38	p.Ser617Pro	rs1262089052	missense variant	-	NC_000007.14:g.91266729T>C	gnomAD
FZD1	Q9UP38	p.Ser617Leu	COSM6110806	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266730C>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gly618Val	rs1429143613	missense variant	-	NC_000007.14:g.91266733G>T	TOPMed
FZD1	Q9UP38	p.Phe619Ile	rs1386119970	missense variant	-	NC_000007.14:g.91266735T>A	TOPMed
FZD1	Q9UP38	p.Ile621Thr	rs757714719	missense variant	-	NC_000007.14:g.91266742T>C	ExAC,gnomAD
FZD1	Q9UP38	p.Ile621Asn	COSM3883261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266742T>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Ser623Phe	COSM3642166	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266748C>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Gly624Asp	rs1356235443	missense variant	-	NC_000007.14:g.91266751G>A	gnomAD
FZD1	Q9UP38	p.Gly624Cys	NCI-TCGA novel	missense variant	-	NC_000007.14:g.91266750G>T	NCI-TCGA
FZD1	Q9UP38	p.Gly624Ser	COSM3883262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266750G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Lys625Glu	rs1211599576	missense variant	-	NC_000007.14:g.91266753A>G	gnomAD
FZD1	Q9UP38	p.Asn628Lys	rs1480246447	missense variant	-	NC_000007.14:g.91266764C>A	gnomAD
FZD1	Q9UP38	p.Asn628Ser	rs117293522	missense variant	-	NC_000007.14:g.91266763A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
FZD1	Q9UP38	p.Ser629Pro	rs756059530	missense variant	-	NC_000007.14:g.91266765T>C	TOPMed
FZD1	Q9UP38	p.Ser629Ala	rs756059530	missense variant	-	NC_000007.14:g.91266765T>G	TOPMed
FZD1	Q9UP38	p.Trp630Ter	rs746224793	stop gained	-	NC_000007.14:g.91266770G>A	ExAC,gnomAD
FZD1	Q9UP38	p.Tyr634Ser	rs780333274	missense variant	-	NC_000007.14:g.91266781A>C	ExAC,gnomAD
FZD1	Q9UP38	p.Thr638Pro	rs776800679	missense variant	-	NC_000007.14:g.91266792A>C	ExAC,gnomAD
FZD1	Q9UP38	p.Thr638Ile	COSM4401599	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266793C>T	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Asn639Ser	rs749290137	missense variant	-	NC_000007.14:g.91266796A>G	ExAC,gnomAD
FZD1	Q9UP38	p.Asn639Lys	rs1352866231	missense variant	-	NC_000007.14:g.91266797C>G	gnomAD
FZD1	Q9UP38	p.Asn639Asp	rs993880464	missense variant	-	NC_000007.14:g.91266795A>G	TOPMed
FZD1	Q9UP38	p.Gln642Arg	rs1461875848	missense variant	-	NC_000007.14:g.91266805A>G	gnomAD
FZD1	Q9UP38	p.Gly643Glu	rs1309142785	missense variant	-	NC_000007.14:g.91266808G>A	gnomAD
FZD1	Q9UP38	p.Gly643Arg	COSM3642167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266807G>A	NCI-TCGA Cosmic
FZD1	Q9UP38	p.Val647Gly	rs1352903371	missense variant	-	NC_000007.14:g.91266820T>G	gnomAD
FZD1	Q9UP38	p.Val647Phe	COSM1452738	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.91266819G>T	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Ala2Pro	rs1406935514	missense variant	-	NC_000009.12:g.122227474C>G	gnomAD
LHX6	Q9UPM6	p.Gln3Glu	rs766793975	missense variant	-	NC_000009.12:g.122227471G>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Gly5Val	rs1422760054	missense variant	-	NC_000009.12:g.122227464C>A	TOPMed,gnomAD
LHX6	Q9UPM6	p.Ser6Ala	rs1350004452	missense variant	-	NC_000009.12:g.122227462A>C	TOPMed
LHX6	Q9UPM6	p.Gly7Arg	rs368987512	missense variant	-	NC_000009.12:g.122227459C>G	ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Gly7Ser	rs368987512	missense variant	-	NC_000009.12:g.122227459C>T	ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Ala10Ser	rs1191550373	missense variant	-	NC_000009.12:g.122227450C>A	gnomAD
LHX6	Q9UPM6	p.Arg13Cys	rs753262130	missense variant	-	NC_000009.12:g.122227441G>A	ExAC,gnomAD
LHX6	Q9UPM6	p.Arg13Gly	rs753262130	missense variant	-	NC_000009.12:g.122227441G>C	ExAC,gnomAD
LHX6	Q9UPM6	p.Ala19Ser	rs1481335739	missense variant	-	NC_000009.12:g.122227423C>A	TOPMed
LHX6	Q9UPM6	p.Pro20Leu	rs1206081225	missense variant	-	NC_000009.12:g.122227419G>A	gnomAD
LHX6	Q9UPM6	p.Pro21Leu	rs763826373	missense variant	-	NC_000009.12:g.122227416G>A	ExAC,gnomAD
LHX6	Q9UPM6	p.Ala22Thr	rs1362909237	missense variant	-	NC_000009.12:g.122227414C>T	TOPMed
LHX6	Q9UPM6	p.Met23Leu	rs1300995372	missense variant	-	NC_000009.12:g.122227411T>A	gnomAD
LHX6	Q9UPM6	p.Met23Thr	rs924850315	missense variant	-	NC_000009.12:g.122227410A>G	TOPMed
LHX6	Q9UPM6	p.Ala32Thr	rs1292174061	missense variant	-	NC_000009.12:g.122227006C>T	gnomAD
LHX6	Q9UPM6	p.Gly33Glu	rs1383639145	missense variant	-	NC_000009.12:g.122227002C>T	TOPMed
LHX6	Q9UPM6	p.Ala34Asp	rs1156567799	missense variant	-	NC_000009.12:g.122226999G>T	gnomAD
LHX6	Q9UPM6	p.Asp36Asn	rs1281159414	missense variant	-	NC_000009.12:g.122226994C>T	TOPMed
LHX6	Q9UPM6	p.Lys37Asn	rs1371452441	missense variant	-	NC_000009.12:g.122226989C>G	gnomAD
LHX6	Q9UPM6	p.Lys37Arg	rs930753919	missense variant	-	NC_000009.12:g.122226990T>C	TOPMed,gnomAD
LHX6	Q9UPM6	p.Glu39Gln	rs770060170	missense variant	-	NC_000009.12:g.122226985C>G	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Glu39Asp	rs1421609364	missense variant	-	NC_000009.12:g.122226983C>A	gnomAD
LHX6	Q9UPM6	p.Glu39Ala	rs1166293221	missense variant	-	NC_000009.12:g.122226984T>G	gnomAD
LHX6	Q9UPM6	p.Gly40Cys	rs1254847391	missense variant	-	NC_000009.12:g.122226982C>A	gnomAD
LHX6	Q9UPM6	p.Gly40Ser	rs1254847391	missense variant	-	NC_000009.12:g.122226982C>T	gnomAD
LHX6	Q9UPM6	p.Gln41His	rs972481261	missense variant	-	NC_000009.12:g.122226977C>G	TOPMed
LHX6	Q9UPM6	p.Ala42Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122226976C>T	NCI-TCGA
LHX6	Q9UPM6	p.Ser43Cys	rs962039822	missense variant	-	NC_000009.12:g.122226972G>C	TOPMed,gnomAD
LHX6	Q9UPM6	p.Cys45Arg	rs748326948	missense variant	-	NC_000009.12:g.122226967A>G	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Cys45Gly	rs748326948	missense variant	-	NC_000009.12:g.122226967A>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Cys45Ser	rs748326948	missense variant	-	NC_000009.12:g.122226967A>T	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Thr46Met	rs1489535876	missense variant	-	NC_000009.12:g.122226963G>A	gnomAD
LHX6	Q9UPM6	p.Pro47Thr	rs781554821	missense variant	-	NC_000009.12:g.122226961G>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Thr49Ser	rs1216274158	missense variant	-	NC_000009.12:g.122226955T>A	gnomAD
LHX6	Q9UPM6	p.Pro50Leu	rs1360445686	missense variant	-	NC_000009.12:g.122226951G>A	gnomAD
LHX6	Q9UPM6	p.Ser51Phe	rs1188591238	missense variant	-	NC_000009.12:g.122226948G>A	TOPMed
LHX6	Q9UPM6	p.Val52Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122226945A>G	NCI-TCGA
LHX6	Q9UPM6	p.Pro55Leu	rs899943755	missense variant	-	NC_000009.12:g.122226936G>A	TOPMed
LHX6	Q9UPM6	p.Pro56Ser	rs1242865793	missense variant	-	NC_000009.12:g.122226934G>A	gnomAD
LHX6	Q9UPM6	p.Ser57Phe	COSM6182444	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122226930G>A	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Ala58Thr	rs1321247028	missense variant	-	NC_000009.12:g.122226928C>T	gnomAD
LHX6	Q9UPM6	p.Ala58Val	rs780658108	missense variant	-	NC_000009.12:g.122226927G>A	ExAC,gnomAD
LHX6	Q9UPM6	p.Ala59Thr	rs1342239564	missense variant	-	NC_000009.12:g.122226925C>T	TOPMed,gnomAD
LHX6	Q9UPM6	p.Ser61Tyr	rs1431783110	missense variant	-	NC_000009.12:g.122226918G>T	TOPMed
LHX6	Q9UPM6	p.Val62Leu	rs753416011	missense variant	-	NC_000009.12:g.122226916C>A	ExAC,gnomAD
LHX6	Q9UPM6	p.Pro63Gln	rs865857751	missense variant	-	NC_000009.12:g.122226912G>T	TOPMed
LHX6	Q9UPM6	p.Ser64Pro	rs368544328	missense variant	-	NC_000009.12:g.122226910A>G	ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Ile69Asn	rs1367417547	missense variant	-	NC_000009.12:g.122226894A>T	gnomAD
LHX6	Q9UPM6	p.Asp79Glu	rs185007094	missense variant	-	NC_000009.12:g.122226863G>T	1000Genomes,gnomAD
LHX6	Q9UPM6	p.Asn87Lys	rs774057122	missense variant	-	NC_000009.12:g.122226489G>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Val92Met	rs762036833	missense variant	-	NC_000009.12:g.122226476C>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Val92Leu	rs762036833	missense variant	-	NC_000009.12:g.122226476C>A	ExAC,gnomAD
LHX6	Q9UPM6	p.Arg93Gln	rs1237674513	missense variant	-	NC_000009.12:g.122226472C>T	gnomAD
LHX6	Q9UPM6	p.Glu96Gln	rs1442941361	missense variant	-	NC_000009.12:g.122226464C>G	gnomAD
LHX6	Q9UPM6	p.Ser98Phe	rs1258262409	missense variant	-	NC_000009.12:g.122226457G>A	gnomAD
LHX6	Q9UPM6	p.Val99Met	rs1344100877	missense variant	-	NC_000009.12:g.122226455C>T	gnomAD
LHX6	Q9UPM6	p.Arg101Pro	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122226448C>G	NCI-TCGA
LHX6	Q9UPM6	p.Thr102Met	rs903795376	missense variant	-	NC_000009.12:g.122226445G>A	TOPMed,gnomAD
LHX6	Q9UPM6	p.Thr102Lys	rs903795376	missense variant	-	NC_000009.12:g.122226445G>T	TOPMed,gnomAD
LHX6	Q9UPM6	p.Arg105Lys	rs772377957	missense variant	-	NC_000009.12:g.122226436C>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Asn108Ser	rs889378022	missense variant	-	NC_000009.12:g.122226427T>C	TOPMed,gnomAD
LHX6	Q9UPM6	p.Tyr111Cys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122226418T>C	NCI-TCGA
LHX6	Q9UPM6	p.Ile112Leu	rs1341735721	missense variant	-	NC_000009.12:g.122226416T>G	gnomAD
LHX6	Q9UPM6	p.Asn114Asp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122226410T>C	NCI-TCGA
LHX6	Q9UPM6	p.Glu116Asp	COSM1104813	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122226402C>A	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Glu116Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122226404C>G	NCI-TCGA
LHX6	Q9UPM6	p.Met121Thr	rs114142278	missense variant	-	NC_000009.12:g.122226388A>G	1000Genomes,ExAC
LHX6	Q9UPM6	p.Phe124Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122226378G>T	NCI-TCGA
LHX6	Q9UPM6	p.Arg126Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122217286C>T	NCI-TCGA
LHX6	Q9UPM6	p.Gly128Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122217281C>T	NCI-TCGA
LHX6	Q9UPM6	p.Gly128Arg	rs1280715232	missense variant	-	NC_000009.12:g.122217281C>G	gnomAD
LHX6	Q9UPM6	p.Ala132Val	rs1340343102	missense variant	-	NC_000009.12:g.122217268G>A	gnomAD
LHX6	Q9UPM6	p.Arg133Trp	rs756354677	missense variant	-	NC_000009.12:g.122217266G>A	TOPMed,gnomAD
LHX6	Q9UPM6	p.Arg133Gln	rs1348298532	missense variant	-	NC_000009.12:g.122217265C>T	gnomAD
LHX6	Q9UPM6	p.Arg136Ter	rs1322977789	stop gained	-	NC_000009.12:g.122217257G>A	gnomAD
LHX6	Q9UPM6	p.Gln137His	rs565893915	missense variant	-	NC_000009.12:g.122217252C>A	TOPMed,gnomAD
LHX6	Q9UPM6	p.Ser141Asn	COSM1459803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122217241C>T	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Asp142Asn	COSM1242462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122217239C>T	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Asp142Tyr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122217239C>A	NCI-TCGA
LHX6	Q9UPM6	p.Asp142Glu	rs1052901227	missense variant	-	NC_000009.12:g.122217237G>T	TOPMed,gnomAD
LHX6	Q9UPM6	p.Trp143Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122217235C>A	NCI-TCGA
LHX6	Q9UPM6	p.Arg145Trp	COSM1213331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122217230G>A	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Cys156Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.122217195G>T	NCI-TCGA
LHX6	Q9UPM6	p.Ser161Leu	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122217181G>A	NCI-TCGA
LHX6	Q9UPM6	p.Lys163Arg	rs1259396465	missense variant	-	NC_000009.12:g.122217175T>C	gnomAD
LHX6	Q9UPM6	p.Ser167Ala	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122217164A>C	NCI-TCGA
LHX6	Q9UPM6	p.Glu170Ter	COSM4828827	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.122217155C>A	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Glu176Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.122217137C>A	NCI-TCGA
LHX6	Q9UPM6	p.Glu177Gln	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122217134C>G	NCI-TCGA
LHX6	Q9UPM6	p.Glu177Lys	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122217134C>T	NCI-TCGA
LHX6	Q9UPM6	p.Ile183Met	rs771625399	missense variant	-	NC_000009.12:g.122217114G>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.His184Gln	rs1253921056	missense variant	-	NC_000009.12:g.122217111G>T	TOPMed
LHX6	Q9UPM6	p.Asp186Asn	COSM1459799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122217107C>T	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Met188Val	rs1329346796	missense variant	-	NC_000009.12:g.122217101T>C	gnomAD
LHX6	Q9UPM6	p.Met188Ile	COSM3653859	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122217099C>T	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Ile189Val	rs201011938	missense variant	-	NC_000009.12:g.122217098T>C	TOPMed,gnomAD
LHX6	Q9UPM6	p.Arg194Lys	rs749060535	missense variant	-	NC_000009.12:g.122217082C>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Gly199Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122217068C>T	NCI-TCGA
LHX6	Q9UPM6	p.Thr203Ala	rs756959110	missense variant	-	NC_000009.12:g.122214372T>C	ExAC,gnomAD
LHX6	Q9UPM6	p.Gly206Glu	rs748176324	missense variant	-	NC_000009.12:g.122214362C>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Ser210Trp	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122214350G>C	NCI-TCGA
LHX6	Q9UPM6	p.Gln212Arg	rs200081104	missense variant	-	NC_000009.12:g.122214344T>C	TOPMed,gnomAD
LHX6	Q9UPM6	p.Ala219Val	COSM3323236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122214323G>A	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Ala219Thr	rs1324004468	missense variant	-	NC_000009.12:g.122214324C>T	TOPMed
LHX6	Q9UPM6	p.Arg221Gly	rs751619203	missense variant	-	NC_000009.12:g.122214318G>C	ExAC,gnomAD
LHX6	Q9UPM6	p.Thr227Ser	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122214299G>C	NCI-TCGA
LHX6	Q9UPM6	p.Ala228Thr	rs141012050	missense variant	-	NC_000009.12:g.122214297C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Gln232Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.122214285G>A	NCI-TCGA
LHX6	Q9UPM6	p.Val233Leu	rs1250236296	missense variant	-	NC_000009.12:g.122214069C>G	gnomAD
LHX6	Q9UPM6	p.Met234Ile	COSM3847559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122214064C>T	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Met234Thr	rs778214950	missense variant	-	NC_000009.12:g.122214065A>G	ExAC,gnomAD
LHX6	Q9UPM6	p.Ala239Thr	rs753322621	missense variant	-	NC_000009.12:g.122214051C>T	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Asp241His	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122214045C>G	NCI-TCGA
LHX6	Q9UPM6	p.Asp245Val	rs1453959910	missense variant	-	NC_000009.12:g.122214032T>A	gnomAD
LHX6	Q9UPM6	p.Ala246Thr	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122214030C>T	NCI-TCGA
LHX6	Q9UPM6	p.Gln247His	rs1464492837	missense variant	-	NC_000009.12:g.122214025C>A	TOPMed
LHX6	Q9UPM6	p.Ala253Glu	rs1195136440	missense variant	-	NC_000009.12:g.122214008G>T	gnomAD
LHX6	Q9UPM6	p.Met255Arg	rs776502085	missense variant	-	NC_000009.12:g.122214002A>C	ExAC,gnomAD
LHX6	Q9UPM6	p.Met255Val	rs761309017	missense variant	-	NC_000009.12:g.122214003T>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Met255Lys	rs776502085	missense variant	-	NC_000009.12:g.122214002A>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Met255Leu	rs761309017	missense variant	-	NC_000009.12:g.122214003T>A	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Met255Leu	rs761309017	missense variant	-	NC_000009.12:g.122214003T>G	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Thr256Met	rs763932135	missense variant	-	NC_000009.12:g.122213999G>A	ExAC
LHX6	Q9UPM6	p.Gly257Cys	rs760455304	missense variant	-	NC_000009.12:g.122213997C>A	ExAC,gnomAD
LHX6	Q9UPM6	p.Ser259Arg	rs1478925023	missense variant	-	NC_000009.12:g.122213991T>G	TOPMed
LHX6	Q9UPM6	p.Gln264Arg	rs1404837187	missense variant	-	NC_000009.12:g.122213975T>C	gnomAD
LHX6	Q9UPM6	p.Gln264Glu	rs1397091334	missense variant	-	NC_000009.12:g.122213976G>C	gnomAD
LHX6	Q9UPM6	p.Trp266Arg	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122213777A>G	NCI-TCGA
LHX6	Q9UPM6	p.Gln268Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.122213771G>A	NCI-TCGA
LHX6	Q9UPM6	p.Gln280Ter	NCI-TCGA novel	stop gained	-	NC_000009.12:g.122213735G>A	NCI-TCGA
LHX6	Q9UPM6	p.Pro282Ser	rs755776987	missense variant	-	NC_000009.12:g.122213729G>A	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro284Leu	rs142314211	missense variant	-	NC_000009.12:g.122213722G>A	ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro284Gln	rs142314211	missense variant	-	NC_000009.12:g.122213722G>T	ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro285Ser	rs1379186056	missense variant	-	NC_000009.12:g.122213720G>A	gnomAD
LHX6	Q9UPM6	p.Ala288Thr	rs1353732780	missense variant	-	NC_000009.12:g.122213711C>T	gnomAD
LHX6	Q9UPM6	p.Ala288Ser	rs1353732780	missense variant	-	NC_000009.12:g.122213711C>A	gnomAD
LHX6	Q9UPM6	p.Pro289Thr	rs1334502985	missense variant	-	NC_000009.12:g.122213708G>T	TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro289Ser	rs1334502985	missense variant	-	NC_000009.12:g.122213708G>A	TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro290Leu	rs1172612099	missense variant	-	NC_000009.12:g.122213704G>A	gnomAD
LHX6	Q9UPM6	p.Pro290Thr	rs983219818	missense variant	-	NC_000009.12:g.122213705G>T	TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro290Ala	rs983219818	missense variant	-	NC_000009.12:g.122213705G>C	TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro294Leu	rs1176015977	missense variant	-	NC_000009.12:g.122213692G>A	gnomAD
LHX6	Q9UPM6	p.Ser295Pro	rs1238423445	missense variant	-	NC_000009.12:g.122213690A>G	TOPMed,gnomAD
LHX6	Q9UPM6	p.Ala296Val	rs758346959	missense variant	-	NC_000009.12:g.122213686G>A	ExAC,gnomAD
LHX6	Q9UPM6	p.Leu297Met	COSM1104809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122213684G>T	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Leu297Val	rs765474854	missense variant	-	NC_000009.12:g.122213684G>C	ExAC,gnomAD
LHX6	Q9UPM6	p.Asp299Gly	rs761983883	missense variant	-	NC_000009.12:g.122213677T>C	ExAC,gnomAD
LHX6	Q9UPM6	p.Asp299Asn	rs1465713836	missense variant	-	NC_000009.12:g.122213678C>T	TOPMed
LHX6	Q9UPM6	p.Asp299Glu	rs776753440	missense variant	-	NC_000009.12:g.122213676G>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Asp300Ala	rs764350949	missense variant	-	NC_000009.12:g.122213674T>G	ExAC
LHX6	Q9UPM6	p.Ile301Ser	rs775881165	missense variant	-	NC_000009.12:g.122213671A>C	ExAC,gnomAD
LHX6	Q9UPM6	p.Ile301Asn	rs775881165	missense variant	-	NC_000009.12:g.122213671A>T	ExAC,gnomAD
LHX6	Q9UPM6	p.His302Gln	rs1378520379	missense variant	-	NC_000009.12:g.122213667G>C	gnomAD
LHX6	Q9UPM6	p.His302Arg	rs746314669	missense variant	-	NC_000009.12:g.122213668T>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Thr304Asn	rs1319744562	missense variant	-	NC_000009.12:g.122213662G>T	TOPMed
LHX6	Q9UPM6	p.Pro305Arg	rs774825314	missense variant	-	NC_000009.12:g.122213659G>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Ser307Arg	rs1373371597	missense variant	-	NC_000009.12:g.122213652G>C	gnomAD
LHX6	Q9UPM6	p.Ser307Gly	rs1230274664	missense variant	-	NC_000009.12:g.122213654T>C	TOPMed
LHX6	Q9UPM6	p.Ser308Asn	rs1298888313	missense variant	-	NC_000009.12:g.122213650C>T	TOPMed
LHX6	Q9UPM6	p.Pro309Ala	rs769359783	missense variant	-	NC_000009.12:g.122213648G>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro309Ser	rs769359783	missense variant	-	NC_000009.12:g.122213648G>A	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Glu310Lys	rs1156240673	missense variant	-	NC_000009.12:g.122213645C>T	gnomAD
LHX6	Q9UPM6	p.Ala312Val	COSM487006	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122213638G>A	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Ala312Thr	rs1257450478	missense variant	-	NC_000009.12:g.122213639C>T	TOPMed
LHX6	Q9UPM6	p.Arg313His	rs1463111102	missense variant	-	NC_000009.12:g.122213635C>T	TOPMed
LHX6	Q9UPM6	p.Met314Thr	rs375958601	missense variant	-	NC_000009.12:g.122213632A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Met314Val	rs780731428	missense variant	-	NC_000009.12:g.122213633T>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.His318Arg	rs1465769702	missense variant	-	NC_000009.12:g.122213620T>C	TOPMed
LHX6	Q9UPM6	p.Gly319Arg	rs1474458901	missense variant	-	NC_000009.12:g.122213618C>G	TOPMed,gnomAD
LHX6	Q9UPM6	p.Gly319Ser	rs1474458901	missense variant	-	NC_000009.12:g.122213618C>T	TOPMed,gnomAD
LHX6	Q9UPM6	p.Tyr320Cys	COSM4877404	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122213614T>C	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Tyr320His	rs779843806	missense variant	-	NC_000009.12:g.122213615A>G	ExAC,gnomAD
LHX6	Q9UPM6	p.Ile321Asn	NCI-TCGA novel	missense variant	-	NC_000009.12:g.122213611A>T	NCI-TCGA
LHX6	Q9UPM6	p.Val325Leu	rs745505125	missense variant	-	NC_000009.12:g.122209712C>G	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Val325Leu	rs745505125	missense variant	-	NC_000009.12:g.122209712C>A	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Gln326Arg	rs1039247770	missense variant	-	NC_000009.12:g.122209708T>C	gnomAD
LHX6	Q9UPM6	p.Cys327Tyr	rs1394481320	missense variant	-	NC_000009.12:g.122209705C>T	gnomAD
LHX6	Q9UPM6	p.Gly328Glu	COSM1701655	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.122209702C>T	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Gly328Arg	rs373915153	missense variant	-	NC_000009.12:g.122209703C>T	ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Val330Met	rs1403608419	missense variant	-	NC_000009.12:g.122209697C>T	TOPMed,gnomAD
LHX6	Q9UPM6	p.His331Gln	rs547463991	missense variant	-	NC_000009.12:g.122209692G>C	1000Genomes,ExAC,gnomAD
LHX6	Q9UPM6	p.Cys332Arg	rs1174667644	missense variant	-	NC_000009.12:g.122209691A>G	gnomAD
LHX6	Q9UPM6	p.Arg333Gln	rs371503306	missense variant	-	NC_000009.12:g.122209687C>T	ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Tyr336Cys	rs1396979515	missense variant	-	NC_000009.12:g.122209678T>C	gnomAD
LHX6	Q9UPM6	p.Ala338Val	rs367663922	missense variant	-	NC_000009.12:g.122209672G>A	ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Ala338Thr	rs766877341	missense variant	-	NC_000009.12:g.122209673C>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Pro339Ala	rs773582289	missense variant	-	NC_000009.12:g.122209670G>C	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro339Thr	rs773582289	missense variant	-	NC_000009.12:g.122209670G>T	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro340Thr	rs41273919	missense variant	-	NC_000009.12:g.122209667G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro340Ser	rs41273919	missense variant	-	NC_000009.12:g.122209667G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro340Leu	rs771797999	missense variant	-	NC_000009.12:g.122209666G>A	ExAC,gnomAD
LHX6	Q9UPM6	p.Pro340Ala	rs41273919	missense variant	-	NC_000009.12:g.122209667G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Val341SerPheSerTerUnkUnkUnk	COSM5347908	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.122209665G>-	NCI-TCGA Cosmic
LHX6	Q9UPM6	p.Val341Ile	rs771003127	missense variant	-	NC_000009.12:g.122209664C>T	ExAC,TOPMed
LHX6	Q9UPM6	p.His342Pro	rs749304681	missense variant	-	NC_000009.12:g.122209660T>G	ExAC,gnomAD
LHX6	Q9UPM6	p.Leu343His	rs756257207	missense variant	-	NC_000009.12:g.122209657A>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Ala345Val	rs1181230340	missense variant	-	NC_000009.12:g.122209651G>A	gnomAD
LHX6	Q9UPM6	p.Asp346Asn	rs781424815	missense variant	-	NC_000009.12:g.122209649C>T	ExAC,gnomAD
LHX6	Q9UPM6	p.Asp346Gly	rs200077245	missense variant	-	NC_000009.12:g.122209648T>C	1000Genomes,ExAC,gnomAD
LHX6	Q9UPM6	p.Met347Thr	rs1297908688	missense variant	-	NC_000009.12:g.122209645A>G	gnomAD
LHX6	Q9UPM6	p.Met347Val	rs549579918	missense variant	-	NC_000009.12:g.122209646T>C	1000Genomes,ExAC,gnomAD
LHX6	Q9UPM6	p.Met347Ile	rs531957865	missense variant	-	NC_000009.12:g.122209644C>T	1000Genomes,ExAC,gnomAD
LHX6	Q9UPM6	p.Gly349Arg	rs758688851	missense variant	-	NC_000009.12:g.122209640C>T	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Pro350Leu	rs561275677	missense variant	-	NC_000009.12:g.122209636G>A	1000Genomes,ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Leu351Ile	rs146076339	missense variant	-	NC_000009.12:g.122209634G>T	1000Genomes,ExAC,gnomAD
LHX6	Q9UPM6	p.Arg354Pro	rs774135453	missense variant	-	NC_000009.12:g.122209624C>G	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Arg354Trp	rs767286367	missense variant	-	NC_000009.12:g.122209625G>A	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Arg354Gln	rs774135453	missense variant	-	NC_000009.12:g.122209624C>T	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Arg354Leu	rs774135453	missense variant	-	NC_000009.12:g.122209624C>A	ExAC,TOPMed,gnomAD
LHX6	Q9UPM6	p.Gly355Arg	rs1306790045	missense variant	-	NC_000009.12:g.122209622C>G	TOPMed
LHX6	Q9UPM6	p.Gly355Ser	rs1306790045	missense variant	-	NC_000009.12:g.122209622C>T	TOPMed
LHX6	Q9UPM6	p.Gln362SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000009.12:g.122204768_122204769insA	NCI-TCGA
B9D1	Q9UPM9	p.Ala2Thr	rs1355899264	missense variant	-	NC_000017.11:g.19362566C>T	TOPMed
B9D1	Q9UPM9	p.Ala4Gly	rs148563865	missense variant	-	NC_000017.11:g.19362559G>C	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Val8Ile	rs745981234	missense variant	-	NC_000017.11:g.19362548C>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Phe9Cys	rs1184352870	missense variant	-	NC_000017.11:g.19362544A>C	TOPMed,gnomAD
B9D1	Q9UPM9	p.Leu10Pro	rs1443586766	missense variant	-	NC_000017.11:g.19362541A>G	gnomAD
B9D1	Q9UPM9	p.Leu10Val	rs1046425051	missense variant	-	NC_000017.11:g.19362542G>C	TOPMed
B9D1	Q9UPM9	p.Met12Thr	rs1246686474	missense variant	-	NC_000017.11:g.19362535A>G	gnomAD
B9D1	Q9UPM9	p.Val13Ile	rs1485893157	missense variant	-	NC_000017.11:g.19362533C>T	TOPMed,gnomAD
B9D1	Q9UPM9	p.Asn14Ser	rs764022966	missense variant	-	NC_000017.11:g.19362529T>C	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Asn14Lys	rs1214262688	missense variant	-	NC_000017.11:g.19362528G>T	gnomAD
B9D1	Q9UPM9	p.Gly15Ala	rs1362060821	missense variant	-	NC_000017.11:g.19362526C>G	gnomAD
B9D1	Q9UPM9	p.Gln16Leu	rs1292879005	missense variant	-	NC_000017.11:g.19362523T>A	gnomAD
B9D1	Q9UPM9	p.Val17Met	rs758139304	missense variant	-	NC_000017.11:g.19362521C>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Ser19Arg	rs1280021718	missense variant	-	NC_000017.11:g.19362515T>G	TOPMed
B9D1	Q9UPM9	p.Ser19Asn	rs752474351	missense variant	-	NC_000017.11:g.19362514C>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Ser19Arg	rs1382912462	missense variant	-	NC_000017.11:g.19362513G>T	gnomAD
B9D1	Q9UPM9	p.Ala20Thr	rs1361342982	missense variant	-	NC_000017.11:g.19362512C>T	TOPMed,gnomAD
B9D1	Q9UPM9	p.Ala20Ser	rs1361342982	missense variant	-	NC_000017.11:g.19362512C>A	TOPMed,gnomAD
B9D1	Q9UPM9	p.Gln21Lys	rs1191082234	missense variant	-	NC_000017.11:g.19362509G>T	gnomAD
B9D1	Q9UPM9	p.Pro23Ala	rs766799080	missense variant	-	NC_000017.11:g.19360385G>C	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Pro23Arg	rs763490372	missense variant	-	NC_000017.11:g.19360384G>C	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Glu24Lys	rs770310163	missense variant	-	NC_000017.11:g.19360382C>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Tyr25Cys	rs943728198	missense variant	-	NC_000017.11:g.19360378T>C	gnomAD
B9D1	Q9UPM9	p.Tyr25Phe	rs943728198	missense variant	-	NC_000017.11:g.19360378T>A	gnomAD
B9D1	Q9UPM9	p.Asp26Asn	COSM3515027	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.19360376C>T	NCI-TCGA Cosmic
B9D1	Q9UPM9	p.Asp26Ala	rs759910675	missense variant	-	NC_000017.11:g.19360375T>G	ExAC
B9D1	Q9UPM9	p.Asp27Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.19360373C>A	NCI-TCGA
B9D1	Q9UPM9	p.Leu28Val	rs777003828	missense variant	-	NC_000017.11:g.19360370G>C	ExAC
B9D1	Q9UPM9	p.Tyr29Ter	NCI-TCGA novel	missense variant	-	NC_000017.11:g.19360365G>T	NCI-TCGA
B9D1	Q9UPM9	p.Tyr29Cys	rs1395388731	missense variant	-	NC_000017.11:g.19360366T>C	gnomAD
B9D1	Q9UPM9	p.Cys30Ser	rs1017476309	missense variant	-	NC_000017.11:g.19360363C>G	TOPMed
B9D1	Q9UPM9	p.Tyr32His	rs1470703479	missense variant	-	NC_000017.11:g.19360358A>G	gnomAD
B9D1	Q9UPM9	p.Tyr32Cys	rs771170000	missense variant	-	NC_000017.11:g.19360357T>C	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Tyr32Cys	RCV000778492	missense variant	B9D1-Related Disorders	NC_000017.11:g.19360357T>C	ClinVar
B9D1	Q9UPM9	p.Gly37Ser	rs771997194	missense variant	-	NC_000017.11:g.19360343C>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Gln38Arg	rs1248771637	missense variant	-	NC_000017.11:g.19360339T>C	TOPMed,gnomAD
B9D1	Q9UPM9	p.Gln38Pro	rs1248771637	missense variant	-	NC_000017.11:g.19360339T>G	TOPMed,gnomAD
B9D1	Q9UPM9	p.Thr43Lys	rs778756975	missense variant	-	NC_000017.11:g.19360324G>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Thr43GlnPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.19360326G>-	NCI-TCGA
B9D1	Q9UPM9	p.Ala44Val	rs149845104	missense variant	-	NC_000017.11:g.19360321G>A	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Glu47Asp	rs1483550746	missense variant	-	NC_000017.11:g.19357943C>G	TOPMed
B9D1	Q9UPM9	p.Glu48Gly	rs773267624	missense variant	-	NC_000017.11:g.19357941T>C	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Ser51Pro	rs546359789	missense variant	-	NC_000017.11:g.19357933A>G	UniProt,dbSNP
B9D1	Q9UPM9	p.Ser51Pro	VAR_075700	missense variant	-	NC_000017.11:g.19357933A>G	UniProt
B9D1	Q9UPM9	p.Ser51Pro	rs546359789	missense variant	-	NC_000017.11:g.19357933A>G	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Thr54Ile	rs774333027	missense variant	-	NC_000017.11:g.19357923G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Gln58Ter	rs1313878249	stop gained	-	NC_000017.11:g.19357912G>A	gnomAD
B9D1	Q9UPM9	p.Val60Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.19357906C>T	NCI-TCGA
B9D1	Q9UPM9	p.Arg61Gln	rs868006869	missense variant	-	NC_000017.11:g.19357902C>T	TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg61Trp	rs73980038	missense variant	-	NC_000017.11:g.19357903G>A	UniProt,dbSNP
B9D1	Q9UPM9	p.Arg61Trp	VAR_066995	missense variant	-	NC_000017.11:g.19357903G>A	UniProt
B9D1	Q9UPM9	p.Arg61Trp	rs73980038	missense variant	-	NC_000017.11:g.19357903G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Gln62Ter	rs1319576405	stop gained	-	NC_000017.11:g.19357900G>A	gnomAD
B9D1	Q9UPM9	p.Leu64Arg	rs755812806	missense variant	-	NC_000017.11:g.19357893A>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Val65Gly	rs952400237	missense variant	-	NC_000017.11:g.19357890A>C	TOPMed
B9D1	Q9UPM9	p.Trp66Cys	rs376644690	missense variant	-	NC_000017.11:g.19357886C>A	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Phe68Leu	rs1006221533	missense variant	-	NC_000017.11:g.19357880G>T	TOPMed,gnomAD
B9D1	Q9UPM9	p.Ile70Val	rs780639433	missense variant	-	NC_000017.11:g.19357876T>C	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Ile70Thr	rs886039811	missense variant	-	NC_000017.11:g.19357875A>G	gnomAD
B9D1	Q9UPM9	p.Val72Ala	rs1476439277	missense variant	-	NC_000017.11:g.19357869A>G	gnomAD
B9D1	Q9UPM9	p.Phe74Ile	COSM4937843	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.19357864A>T	NCI-TCGA Cosmic
B9D1	Q9UPM9	p.Lys75Gln	rs751099090	missense variant	-	NC_000017.11:g.19357861T>G	ExAC,gnomAD
B9D1	Q9UPM9	p.Ser76AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.19357858T>-	NCI-TCGA
B9D1	Q9UPM9	p.Asn78Ser	rs1364533835	missense variant	-	NC_000017.11:g.19357851T>C	TOPMed
B9D1	Q9UPM9	p.Pro79Ser	rs765910751	missense variant	-	NC_000017.11:g.19357849G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Pro79Ala	rs765910751	missense variant	-	NC_000017.11:g.19357849G>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Pro79Leu	rs919713893	missense variant	-	NC_000017.11:g.19357848G>A	TOPMed
B9D1	Q9UPM9	p.Gly81Ser	rs766798349	missense variant	-	NC_000017.11:g.19357843C>T	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Pro83Leu	rs1157707688	missense variant	-	NC_000017.11:g.19347877G>A	gnomAD
B9D1	Q9UPM9	p.Ile85Phe	rs769608300	missense variant	-	NC_000017.11:g.19347872T>A	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Val86Met	rs776537604	missense variant	-	NC_000017.11:g.19347869C>T	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Val86Leu	rs776537604	missense variant	-	NC_000017.11:g.19347869C>A	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Val89Met	rs777500443	missense variant	-	NC_000017.11:g.19347860C>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Tyr90Cys	rs747596672	missense variant	-	NC_000017.11:g.19347856T>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Gly91Arg	rs1238280587	missense variant	-	NC_000017.11:g.19347854C>T	gnomAD
B9D1	Q9UPM9	p.Val94Ala	rs1315959511	missense variant	-	NC_000017.11:g.19347844A>G	gnomAD
B9D1	Q9UPM9	p.Phe95Leu	rs373478202	missense variant	-	NC_000017.11:g.19347840G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Phe95Leu	RCV000541544	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.19347840G>T	ClinVar
B9D1	Q9UPM9	p.Phe95Leu	rs373478202	missense variant	-	NC_000017.11:g.19347840G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Gly96Arg	rs751788862	missense variant	-	NC_000017.11:g.19347839C>T	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Gly96Arg	rs751788862	missense variant	-	NC_000017.11:g.19347839C>G	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Asp98Tyr	rs764245755	missense variant	-	NC_000017.11:g.19347833C>A	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Asp98Asn	rs764245755	missense variant	-	NC_000017.11:g.19347833C>T	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Val99Met	rs1470992949	missense variant	-	NC_000017.11:g.19347830C>T	TOPMed
B9D1	Q9UPM9	p.Val99Glu	rs763153642	missense variant	-	NC_000017.11:g.19347829A>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Val99Ala	rs763153642	missense variant	-	NC_000017.11:g.19347829A>G	ExAC,gnomAD
B9D1	Q9UPM9	p.Arg101Ter	rs752718131	stop gained	-	NC_000017.11:g.19347824G>A	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg101Gly	rs752718131	missense variant	-	NC_000017.11:g.19347824G>C	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg101Gln	rs148240978	missense variant	-	NC_000017.11:g.19347823C>T	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Tyr103Cys	rs1414382257	missense variant	-	NC_000017.11:g.19347817T>C	TOPMed
B9D1	Q9UPM9	p.Ala105Thr	rs759369800	missense variant	-	NC_000017.11:g.19347812C>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Val106Met	rs770853834	missense variant	-	NC_000017.11:g.19347809C>T	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Val108Met	rs773056053	missense variant	-	NC_000017.11:g.19347803C>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Pro109Ser	rs1377833011	missense variant	-	NC_000017.11:g.19347800G>A	TOPMed
B9D1	Q9UPM9	p.Arg114Gln	rs778260923	missense variant	-	NC_000017.11:g.19347784C>T	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg114Trp	rs747731978	missense variant	-	NC_000017.11:g.19347785G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.His115Pro	rs748742792	missense variant	-	NC_000017.11:g.19347329T>G	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.His115Tyr	rs768052317	missense variant	-	NC_000017.11:g.19347330G>A	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Lys116Arg	rs1430578855	missense variant	-	NC_000017.11:g.19347326T>C	gnomAD
B9D1	Q9UPM9	p.Lys116Glu	rs777184376	missense variant	-	NC_000017.11:g.19347327T>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Arg117GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.19347324T>-	NCI-TCGA
B9D1	Q9UPM9	p.Thr118Ser	rs997237718	missense variant	-	NC_000017.11:g.19347321T>A	TOPMed,gnomAD
B9D1	Q9UPM9	p.Met121Ile	rs1457371367	missense variant	-	NC_000017.11:g.19347310C>T	gnomAD
B9D1	Q9UPM9	p.Met121Thr	rs1177935761	missense variant	-	NC_000017.11:g.19347311A>G	gnomAD
B9D1	Q9UPM9	p.Phe122Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.19347308A>C	NCI-TCGA
B9D1	Q9UPM9	p.Phe122Ser	rs1256190995	missense variant	-	NC_000017.11:g.19347308A>G	gnomAD
B9D1	Q9UPM9	p.Ser126Thr	rs201299216	missense variant	-	NC_000017.11:g.19347297A>T	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Ser126Thr	RCV000243872	missense variant	-	NC_000017.11:g.19347297A>T	ClinVar
B9D1	Q9UPM9	p.Thr127Met	rs779138882	missense variant	-	NC_000017.11:g.19347293G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Thr127Ala	rs748349063	missense variant	-	NC_000017.11:g.19347294T>C	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Ser128Phe	rs1472421570	missense variant	-	NC_000017.11:g.19347290G>A	TOPMed
B9D1	Q9UPM9	p.Lys129Glu	rs753961996	missense variant	-	NC_000017.11:g.19347288T>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Gln131Ter	rs1462645325	stop gained	-	NC_000017.11:g.19347282G>A	gnomAD
B9D1	Q9UPM9	p.Gln131Pro	rs1159882758	missense variant	-	NC_000017.11:g.19347281T>G	TOPMed
B9D1	Q9UPM9	p.Phe133Leu	rs201901019	missense variant	-	NC_000017.11:g.19347276A>G	ExAC,gnomAD
B9D1	Q9UPM9	p.Trp136Cys	rs1360851757	missense variant	-	NC_000017.11:g.19343854C>G	gnomAD
B9D1	Q9UPM9	p.Phe137Leu	rs1297229840	missense variant	-	NC_000017.11:g.19343853A>G	gnomAD
B9D1	Q9UPM9	p.Gly139Trp	rs1366554009	missense variant	-	NC_000017.11:g.19343847C>A	TOPMed
B9D1	Q9UPM9	p.Arg140Trp	rs1417423091	missense variant	-	NC_000017.11:g.19343844G>A	gnomAD
B9D1	Q9UPM9	p.Arg140Gln	rs375256419	missense variant	-	NC_000017.11:g.19343843C>T	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg141Trp	rs752121172	missense variant	-	NC_000017.11:g.19343841G>A	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg141Gln	rs764681399	missense variant	-	NC_000017.11:g.19343840C>T	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Pro142Ser	rs1196401724	missense variant	-	NC_000017.11:g.19343838G>A	gnomAD
B9D1	Q9UPM9	p.Glu143Lys	rs1490515097	missense variant	-	NC_000017.11:g.19343835C>T	gnomAD
B9D1	Q9UPM9	p.Thr145Ile	rs765607415	missense variant	-	NC_000017.11:g.19343828G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Thr145Ile	RCV000540095	missense variant	Joubert syndrome (JBTS)	NC_000017.11:g.19343828G>A	ClinVar
B9D1	Q9UPM9	p.Asp146Glu	rs1221013952	missense variant	-	NC_000017.11:g.19343824G>C	gnomAD
B9D1	Q9UPM9	p.Asp146Asn	rs759829351	missense variant	-	NC_000017.11:g.19343826C>T	ExAC,gnomAD
B9D1	Q9UPM9	p.Pro147Ser	rs776679506	missense variant	-	NC_000017.11:g.19343823G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Pro147Leu	rs771049549	missense variant	-	NC_000017.11:g.19343822G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Pro147Ala	rs776679506	missense variant	-	NC_000017.11:g.19343823G>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Lys148Asn	rs773192535	missense variant	-	NC_000017.11:g.19343818C>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Lys148Arg	rs1340916417	missense variant	-	NC_000017.11:g.19343819T>C	gnomAD
B9D1	Q9UPM9	p.Lys148Thr	rs1340916417	missense variant	-	NC_000017.11:g.19343819T>G	gnomAD
B9D1	Q9UPM9	p.Val150Met	rs1397875662	missense variant	-	NC_000017.11:g.19343814C>T	TOPMed,gnomAD
B9D1	Q9UPM9	p.Ala151Gly	rs771966098	missense variant	-	NC_000017.11:g.19343810G>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Ala151Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.19343811C>T	NCI-TCGA
B9D1	Q9UPM9	p.Gln152Arg	rs1456979116	missense variant	-	NC_000017.11:g.19343807T>C	TOPMed,gnomAD
B9D1	Q9UPM9	p.Gly153Ser	rs372249324	missense variant	-	NC_000017.11:g.19343805C>T	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg156Gln	rs886038205	missense variant	-	NC_000017.11:g.19343795C>T	TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg156Gln	rs886038205	missense variant	Joubert syndrome 27 (JBTS27)	NC_000017.11:g.19343795C>T	UniProt,dbSNP
B9D1	Q9UPM9	p.Arg156Gln	VAR_076975	missense variant	Joubert syndrome 27 (JBTS27)	NC_000017.11:g.19343795C>T	UniProt
B9D1	Q9UPM9	p.Arg156Trp	rs369488112	missense variant	-	NC_000017.11:g.19343796G>A	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg156Gln	RCV000241544	missense variant	Joubert syndrome 27 (JBTS27)	NC_000017.11:g.19343795C>T	ClinVar
B9D1	Q9UPM9	p.Arg156Pro	RCV000754944	missense variant	Jeune thoracic dystrophy (ATD1)	NC_000017.11:g.19343795C>G	ClinVar
B9D1	Q9UPM9	p.Glu157Val	rs1169808869	missense variant	-	NC_000017.11:g.19343792T>A	TOPMed
B9D1	Q9UPM9	p.Glu157Asp	rs749945608	missense variant	-	NC_000017.11:g.19343791T>G	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Glu157Lys	rs146272049	missense variant	-	NC_000017.11:g.19343793C>T	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Val158Gly	rs1406194956	missense variant	-	NC_000017.11:g.19343461A>C	TOPMed
B9D1	Q9UPM9	p.Arg160His	rs538949071	missense variant	-	NC_000017.11:g.19343455C>T	1000Genomes,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg160Cys	rs182767811	missense variant	-	NC_000017.11:g.19343456G>A	1000Genomes,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Val161Ala	rs757444799	missense variant	-	NC_000017.11:g.19343452A>G	ExAC,gnomAD
B9D1	Q9UPM9	p.Arg162His	rs142346405	missense variant	-	NC_000017.11:g.19343449C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Arg162Cys	rs1173992065	missense variant	-	NC_000017.11:g.19343450G>A	TOPMed,gnomAD
B9D1	Q9UPM9	p.Ser163Phe	rs1394069896	missense variant	-	NC_000017.11:g.19343446G>A	gnomAD
B9D1	Q9UPM9	p.Gly165Cys	rs1057522520	missense variant	-	NC_000017.11:g.19343441C>A	-
B9D1	Q9UPM9	p.Gly165Asp	rs1191282778	missense variant	-	NC_000017.11:g.19343440C>T	gnomAD
B9D1	Q9UPM9	p.Gly165Cys	RCV000427074	missense variant	-	NC_000017.11:g.19343441C>A	ClinVar
B9D1	Q9UPM9	p.Leu169Val	rs764112875	missense variant	-	NC_000017.11:g.19343429G>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Leu170Phe	rs752593719	missense variant	-	NC_000017.11:g.19343426G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Asn172Ser	rs765253677	missense variant	-	NC_000017.11:g.19343419T>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Val173Met	rs776537748	missense variant	-	NC_000017.11:g.19343417C>T	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Val174del	VAR_076976	inframe_deletion	Joubert syndrome 27 (JBTS27) [MIM:617120]	-	UniProt
B9D1	Q9UPM9	p.Lys176Met	rs766184795	missense variant	-	NC_000017.11:g.19343407T>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Asp177Asn	rs1309922077	missense variant	-	NC_000017.11:g.19343405C>T	gnomAD
B9D1	Q9UPM9	p.Asp177Tyr	rs1309922077	missense variant	-	NC_000017.11:g.19343405C>A	gnomAD
B9D1	Q9UPM9	p.Asp177Gly	rs760275062	missense variant	-	NC_000017.11:g.19343404T>C	ExAC,gnomAD
B9D1	Q9UPM9	p.Met178Ile	rs939940954	missense variant	-	NC_000017.11:g.19343400C>T	gnomAD
B9D1	Q9UPM9	p.Arg179SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.19343399_19343400insGA	NCI-TCGA
B9D1	Q9UPM9	p.Arg179Thr	rs772851974	missense variant	-	NC_000017.11:g.19343398C>G	ExAC,gnomAD
B9D1	Q9UPM9	p.Lys180Glu	rs1205435550	missense variant	-	NC_000017.11:g.19343396T>C	TOPMed
B9D1	Q9UPM9	p.Lys180Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.19343395T>G	NCI-TCGA
B9D1	Q9UPM9	p.Leu181Pro	rs771494755	missense variant	-	NC_000017.11:g.19343392A>G	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Tyr183Cys	rs1374536607	missense variant	-	NC_000017.11:g.19343386T>C	gnomAD
B9D1	Q9UPM9	p.Asp184Asn	rs747677339	missense variant	-	NC_000017.11:g.19343384C>T	ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Asp184Val	rs1441010335	missense variant	-	NC_000017.11:g.19343383T>A	gnomAD
B9D1	Q9UPM9	p.Thr185Ala	rs1380337231	missense variant	-	NC_000017.11:g.19343381T>C	TOPMed,gnomAD
B9D1	Q9UPM9	p.Pro187Ser	rs969720058	missense variant	-	NC_000017.11:g.19343375G>A	TOPMed,gnomAD
B9D1	Q9UPM9	p.Asp189His	COSM4834214	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.19343369C>G	NCI-TCGA Cosmic
B9D1	Q9UPM9	p.Thr190Ser	rs147684440	missense variant	-	NC_000017.11:g.19343366T>A	ESP,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Thr190Arg	rs150434901	missense variant	-	NC_000017.11:g.19343365G>C	ESP,ExAC
B9D1	Q9UPM9	p.Gln191Lys	rs1355797261	missense variant	-	NC_000017.11:g.19343363G>T	TOPMed,gnomAD
B9D1	Q9UPM9	p.Gln191Pro	rs781561961	missense variant	-	NC_000017.11:g.19343362T>G	ExAC,gnomAD
B9D1	Q9UPM9	p.Gly192Ala	rs757604145	missense variant	-	NC_000017.11:g.19343359C>G	ExAC,gnomAD
B9D1	Q9UPM9	p.Val193Met	rs530321513	missense variant	-	NC_000017.11:g.19343357C>T	1000Genomes,ExAC,gnomAD
B9D1	Q9UPM9	p.Gly195Arg	rs1413903438	missense variant	-	NC_000017.11:g.19343351C>T	gnomAD
B9D1	Q9UPM9	p.Gly195Val	rs758466581	missense variant	-	NC_000017.11:g.19343350C>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Pro196Leu	rs752818836	missense variant	-	NC_000017.11:g.19343347G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Pro199Ser	rs1015745292	missense variant	-	NC_000017.11:g.19343339G>A	TOPMed
B9D1	Q9UPM9	p.Pro199Leu	rs754944872	missense variant	-	NC_000017.11:g.19343338G>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Gln200Pro	rs1448501037	missense variant	-	NC_000017.11:g.19343335T>G	gnomAD
B9D1	Q9UPM9	p.Gln200His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.19343334C>A	NCI-TCGA
B9D1	Q9UPM9	p.Ser201Asn	rs1310730602	missense variant	-	NC_000017.11:g.19343332C>T	gnomAD
B9D1	Q9UPM9	p.Ser201Arg	rs547869203	missense variant	-	NC_000017.11:g.19343331G>T	1000Genomes,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Pro203Arg	rs1399095814	missense variant	-	NC_000017.11:g.19343326G>C	TOPMed
B9D1	Q9UPM9	p.Gln204His	rs772797594	missense variant	-	NC_000017.11:g.19343322C>A	ExAC,gnomAD
B9D1	Q9UPM9	p.Gln204Arg	rs997262238	missense variant	-	NC_000017.11:g.19343323T>C	TOPMed,gnomAD
B9D1	Q9UPM9	p.Ter205Arg	rs201498591	stop lost	-	NC_000017.11:g.19343321A>G	1000Genomes,ExAC,TOPMed,gnomAD
B9D1	Q9UPM9	p.Ter205Gly	rs201498591	stop lost	-	NC_000017.11:g.19343321A>C	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ser4Asn	rs1401568540	missense variant	-	NC_000023.11:g.54044880C>T	TOPMed
PHF8	Q9UPP1	p.Arg5His	NCI-TCGA novel	missense variant	-	chrX:g.54044877C>T	NCI-TCGA
PHF8	Q9UPP1	p.Arg5His	rs1330348926	missense variant	-	NC_000023.11:g.54044877C>T	TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg5Cys	rs1318687486	missense variant	-	NC_000023.11:g.54044878G>A	TOPMed
PHF8	Q9UPP1	p.Ala6Pro	rs781990132	missense variant	-	NC_000023.11:g.54044875C>G	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ala6Thr	rs781990132	missense variant	-	NC_000023.11:g.54044875C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ile7Val	rs782087447	missense variant	-	NC_000023.11:g.54042818T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Gln9Arg	rs1428921667	missense variant	-	NC_000023.11:g.54042811T>C	TOPMed
PHF8	Q9UPP1	p.Arg10Gly	NCI-TCGA novel	missense variant	-	chrX:g.54042809T>C	NCI-TCGA
PHF8	Q9UPP1	p.Arg12Ser	rs1299848643	missense variant	-	NC_000023.11:g.54042803G>T	TOPMed
PHF8	Q9UPP1	p.Arg12His	NCI-TCGA novel	missense variant	-	chrX:g.54042802C>T	NCI-TCGA
PHF8	Q9UPP1	p.Val13Leu	rs1557116331	missense variant	-	NC_000023.11:g.54042800C>A	gnomAD
PHF8	Q9UPP1	p.Pro16Thr	rs781976643	missense variant	-	NC_000023.11:g.54042791G>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Pro17Thr	rs1557116325	missense variant	-	NC_000023.11:g.54042788G>T	gnomAD
PHF8	Q9UPP1	p.Pro17Ser	RCV000509211	missense variant	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54042788G>A	ClinVar
PHF8	Q9UPP1	p.Pro17Ser	rs1557116325	missense variant	-	NC_000023.11:g.54042788G>A	gnomAD
PHF8	Q9UPP1	p.Ala18Val	rs376594438	missense variant	-	NC_000023.11:g.54042784G>A	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Pro19Thr	rs1557116315	missense variant	-	NC_000023.11:g.54042782G>T	gnomAD
PHF8	Q9UPP1	p.Leu20Phe	rs782678219	missense variant	-	NC_000023.11:g.54042779G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Leu20Arg	rs1301964328	missense variant	-	NC_000023.11:g.54042778A>C	TOPMed
PHF8	Q9UPP1	p.Asp21Gly	rs886044852	missense variant	-	NC_000023.11:g.54042775T>C	gnomAD
PHF8	Q9UPP1	p.Asp21Gly	RCV000261029	missense variant	-	NC_000023.11:g.54042775T>C	ClinVar
PHF8	Q9UPP1	p.Thr22Met	NCI-TCGA novel	missense variant	-	chrX:g.54042772G>A	NCI-TCGA
PHF8	Q9UPP1	p.Thr23Ala	rs1201431283	missense variant	-	NC_000023.11:g.54042770T>C	TOPMed
PHF8	Q9UPP1	p.Asn24Lys	rs782307892	missense variant	-	NC_000023.11:g.54042765G>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Gly27Val	rs370323010	missense variant	-	NC_000023.11:g.54042757C>A	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg29Gly	rs782495598	missense variant	-	NC_000023.11:g.54042752T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Thr30Met	rs1217514482	missense variant	-	NC_000023.11:g.54042748G>A	TOPMed,gnomAD
PHF8	Q9UPP1	p.Thr30Lys	rs1217514482	missense variant	-	NC_000023.11:g.54042748G>T	TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg34Gln	rs993263530	missense variant	-	NC_000023.11:g.54042736C>T	TOPMed
PHF8	Q9UPP1	p.Arg34Ter	rs781851128	stop gained	-	NC_000023.11:g.54042737G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg34Pro	rs993263530	missense variant	-	NC_000023.11:g.54042736C>G	TOPMed
PHF8	Q9UPP1	p.Ala35Pro	rs1557116269	missense variant	-	NC_000023.11:g.54042734C>G	gnomAD
PHF8	Q9UPP1	p.Ala35Val	rs782648721	missense variant	-	NC_000023.11:g.54042733G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Glu58Gly	rs1478213644	missense variant	-	NC_000023.11:g.54042664T>C	TOPMed
PHF8	Q9UPP1	p.Met61Lys	NCI-TCGA novel	missense variant	-	chrX:g.54042655A>T	NCI-TCGA
PHF8	Q9UPP1	p.Gln63Glu	rs782808313	missense variant	-	NC_000023.11:g.54042650G>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Gly68Asp	rs1557116239	missense variant	-	NC_000023.11:g.54042634C>T	gnomAD
PHF8	Q9UPP1	p.Gly72Asp	rs781859322	missense variant	-	NC_000023.11:g.54022835C>T	ExAC
PHF8	Q9UPP1	p.Glu75Asp	NCI-TCGA novel	missense variant	-	chrX:g.54022825C>A	NCI-TCGA
PHF8	Q9UPP1	p.Ala78Ter	RCV000522013	frameshift	-	NC_000023.11:g.54022821dup	ClinVar
PHF8	Q9UPP1	p.Asp80Glu	rs782797933	missense variant	-	NC_000023.11:g.54022810G>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Cys86Tyr	NCI-TCGA novel	missense variant	-	chrX:g.54022793C>T	NCI-TCGA
PHF8	Q9UPP1	p.Asn88Lys	rs781786649	missense variant	-	NC_000023.11:g.54022786G>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Glu90Ter	COSM1151673	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.54022782C>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Ser96Phe	NCI-TCGA novel	missense variant	-	chrX:g.54022763G>A	NCI-TCGA
PHF8	Q9UPP1	p.Arg101His	rs781825432	missense variant	-	NC_000023.11:g.54022358C>T	1000Genomes,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg101Cys	rs782278302	missense variant	-	NC_000023.11:g.54022359G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg102Cys	rs782556188	missense variant	-	NC_000023.11:g.54022356G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg102His	rs1557110261	missense variant	-	NC_000023.11:g.54022355C>T	gnomAD
PHF8	Q9UPP1	p.Arg102Cys	rs782556188	missense variant	-	chrX:g.54022356G>A	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Ser104Phe	COSM4825435	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54022349G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.His108Asn	rs797045886	missense variant	-	NC_000023.11:g.54022338G>T	TOPMed
PHF8	Q9UPP1	p.His108Arg	rs782460207	missense variant	-	NC_000023.11:g.54022337T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.His108Asn	RCV000192593	missense variant	-	NC_000023.11:g.54022338G>T	ClinVar
PHF8	Q9UPP1	p.Asp109Glu	rs148664730	missense variant	-	NC_000023.11:g.54022333A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asp109Glu	RCV000720963	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.54022333A>T	ClinVar
PHF8	Q9UPP1	p.Thr110Ile	rs999300149	missense variant	-	NC_000023.11:g.54022331G>A	TOPMed
PHF8	Q9UPP1	p.Thr110Ala	rs1557110237	missense variant	-	NC_000023.11:g.54022332T>C	gnomAD
PHF8	Q9UPP1	p.His111Arg	NCI-TCGA novel	missense variant	-	chrX:g.54022328T>C	NCI-TCGA
PHF8	Q9UPP1	p.Lys114AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.54022318T>-	NCI-TCGA
PHF8	Q9UPP1	p.Gly119Arg	rs1557110214	missense variant	-	NC_000023.11:g.54022305C>T	-
PHF8	Q9UPP1	p.Gly119Arg	RCV000523717	missense variant	-	NC_000023.11:g.54022305C>T	ClinVar
PHF8	Q9UPP1	p.Ser120Asn	rs1347887893	missense variant	-	NC_000023.11:g.54022301C>T	TOPMed
PHF8	Q9UPP1	p.Pro121Ala	rs1557110209	missense variant	-	NC_000023.11:g.54022299G>C	gnomAD
PHF8	Q9UPP1	p.Thr122Ala	rs782805084	missense variant	-	NC_000023.11:g.54022296T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Thr122Met	rs782156466	missense variant	-	NC_000023.11:g.54022295G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Val124Ile	rs199664796	missense variant	-	NC_000023.11:g.54022290C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Val124Ile	rs199664796	missense variant	-	chrX:g.54022290C>T	NCI-TCGA
PHF8	Q9UPP1	p.Val124Leu	rs199664796	missense variant	-	NC_000023.11:g.54022290C>G	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg128Leu	rs1033986927	missense variant	-	NC_000023.11:g.54022277C>A	TOPMed
PHF8	Q9UPP1	p.Arg128Gln	rs1033986927	missense variant	-	NC_000023.11:g.54022277C>T	TOPMed
PHF8	Q9UPP1	p.Ser129Asn	rs1557110183	missense variant	-	NC_000023.11:g.54022274C>T	gnomAD
PHF8	Q9UPP1	p.Arg130Trp	rs782064595	missense variant	-	NC_000023.11:g.54022272T>A	1000Genomes
PHF8	Q9UPP1	p.Thr131Ile	rs782020804	missense variant	-	NC_000023.11:g.54022268G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Asp133Tyr	COSM3562458	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54022263C>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Asp136Glu	rs782557597	missense variant	-	NC_000023.11:g.54017815A>C	ExAC
PHF8	Q9UPP1	p.Asn145His	COSM1123281	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017790T>G	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Thr148Ser	rs1557108691	missense variant	-	NC_000023.11:g.54017780G>C	gnomAD
PHF8	Q9UPP1	p.Val149Met	rs1557108684	missense variant	-	NC_000023.11:g.54017778C>T	gnomAD
PHF8	Q9UPP1	p.Val149Met	NCI-TCGA novel	missense variant	-	chrX:g.54017778C>T	NCI-TCGA
PHF8	Q9UPP1	p.Val159Met	rs1557108680	missense variant	-	NC_000023.11:g.54017748C>T	gnomAD
PHF8	Q9UPP1	p.Leu162Ter	RCV000414958	frameshift	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54017738del	ClinVar
PHF8	Q9UPP1	p.Leu164Pro	rs1557108660	missense variant	-	NC_000023.11:g.54017732A>G	gnomAD
PHF8	Q9UPP1	p.Gly170Cys	rs1557108645	missense variant	-	NC_000023.11:g.54017715C>A	gnomAD
PHF8	Q9UPP1	p.Met171Leu	NCI-TCGA novel	missense variant	-	chrX:g.54017712T>A	NCI-TCGA
PHF8	Q9UPP1	p.Thr172Met	rs782170063	missense variant	-	NC_000023.11:g.54017708G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Leu173Arg	COSM4929031	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017705A>C	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Ser175Leu	rs1557108625	missense variant	-	NC_000023.11:g.54017699G>A	gnomAD
PHF8	Q9UPP1	p.Thr179Ile	COSM1123280	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017687G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Thr179Asn	COSM1138178	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017687G>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.His185Gln	rs376531117	missense variant	-	NC_000023.11:g.54017668G>T	ESP,TOPMed
PHF8	Q9UPP1	p.His185Tyr	COSM4110255	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54017670G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.His185Arg	rs1557108604	missense variant	-	NC_000023.11:g.54017669T>C	gnomAD
PHF8	Q9UPP1	p.Tyr186His	rs1283349759	missense variant	-	NC_000023.11:g.54017667A>G	TOPMed
PHF8	Q9UPP1	p.Glu192Gln	COSM3845089	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54016725C>G	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg200His	COSM4110251	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54016700C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg200His	rs1333636508	missense variant	-	NC_000023.11:g.54016700C>T	TOPMed,gnomAD
PHF8	Q9UPP1	p.Lys213Ter	RCV000011546	nonsense	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54016662T>A	ClinVar
PHF8	Q9UPP1	p.Lys213Ter	rs121918523	stop gained	Siderius x-linked mental retardation syndrome (mrxssd)	NC_000023.11:g.54016662T>A	-
PHF8	Q9UPP1	p.Tyr216His	NCI-TCGA novel	missense variant	-	chrX:g.54016653A>G	NCI-TCGA
PHF8	Q9UPP1	p.Tyr216His	rs1282895940	missense variant	-	NC_000023.11:g.54016653A>G	TOPMed,gnomAD
PHF8	Q9UPP1	p.Ser217Arg	NCI-TCGA novel	missense variant	-	chrX:g.54016650T>G	NCI-TCGA
PHF8	Q9UPP1	p.Gly218Arg	rs1234249711	missense variant	-	NC_000023.11:g.54016647C>T	TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg220Lys	rs781983583	missense variant	-	NC_000023.11:g.54016640C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Glu221Gln	rs1557108272	missense variant	-	NC_000023.11:g.54016638C>G	gnomAD
PHF8	Q9UPP1	p.Glu221Asp	NCI-TCGA novel	missense variant	-	chrX:g.54016636C>A	NCI-TCGA
PHF8	Q9UPP1	p.Val223Leu	rs782395569	missense variant	-	NC_000023.11:g.54016632C>G	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Val223Ile	rs782395569	missense variant	-	NC_000023.11:g.54016632C>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ile227Val	rs782279926	missense variant	-	NC_000023.11:g.54016620T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Val240Met	rs1557107506	missense variant	-	NC_000023.11:g.54014550C>T	gnomAD
PHF8	Q9UPP1	p.Pro243Leu	COSM294700	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54014540G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg247Ter	rs121918522	stop gained	Siderius x-linked mental retardation syndrome (mrxssd)	NC_000023.11:g.54014529G>A	-
PHF8	Q9UPP1	p.Arg247Ter	RCV000011545	nonsense	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54014529G>A	ClinVar
PHF8	Q9UPP1	p.Arg247Gln	COSM257721	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54014528C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg247Ter	rs121918522	stop gained	-	chrX:g.54014529G>A	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Lys248Arg	RCV000718488	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.54014525T>C	ClinVar
PHF8	Q9UPP1	p.Lys248Arg	rs1232258803	missense variant	-	NC_000023.11:g.54014525T>C	TOPMed,gnomAD
PHF8	Q9UPP1	p.Trp251Leu	rs782241612	missense variant	-	NC_000023.11:g.54014516C>A	ExAC
PHF8	Q9UPP1	p.Asn254Ser	NCI-TCGA novel	missense variant	-	chrX:g.54014507T>C	NCI-TCGA
PHF8	Q9UPP1	p.Glu258Gln	COSM6187837	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54014496C>G	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Glu258Gly	rs1557107478	missense variant	-	NC_000023.11:g.54014495T>C	gnomAD
PHF8	Q9UPP1	p.Glu259Lys	COSM4850814	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54014493C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Asn266Ser	rs1557107466	missense variant	-	NC_000023.11:g.54014471T>C	gnomAD
PHF8	Q9UPP1	p.Val267Ile	rs377084478	missense variant	-	NC_000023.11:g.54014469C>T	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Val267Ile	rs377084478	missense variant	-	chrX:g.54014469C>T	NCI-TCGA
PHF8	Q9UPP1	p.Val275Met	rs782444247	missense variant	-	NC_000023.11:g.54014445C>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg276Ter	NCI-TCGA novel	stop gained	-	chrX:g.54014442G>A	NCI-TCGA
PHF8	Q9UPP1	p.Thr280Ala	rs1557107443	missense variant	-	NC_000023.11:g.54014430T>C	gnomAD
PHF8	Q9UPP1	p.Gly298Ser	NCI-TCGA novel	missense variant	-	chrX:g.54011284C>T	NCI-TCGA
PHF8	Q9UPP1	p.Phe302Ile	rs1469862896	missense variant	-	NC_000023.11:g.54011272A>T	TOPMed
PHF8	Q9UPP1	p.Ile305Thr	COSM3562450	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54011262A>G	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg306His	COSM1123277	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54011259C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg306Cys	rs782033442	missense variant	-	chrX:g.54011260G>A	NCI-TCGA
PHF8	Q9UPP1	p.Arg306Cys	rs782033442	missense variant	-	NC_000023.11:g.54011260G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Asn309Asp	rs1557106685	missense variant	-	NC_000023.11:g.54011251T>C	gnomAD
PHF8	Q9UPP1	p.Leu314Val	NCI-TCGA novel	missense variant	-	chrX:g.54011236G>C	NCI-TCGA
PHF8	Q9UPP1	p.Phe315Ser	rs121918524	missense variant	Mental retardation, X-linked, syndromic, Siderius type (MRXSSD)	NC_000023.11:g.54011232A>G	UniProt,dbSNP
PHF8	Q9UPP1	p.Phe315Ser	VAR_062250	missense variant	Mental retardation, X-linked, syndromic, Siderius type (MRXSSD)	NC_000023.11:g.54011232A>G	UniProt
PHF8	Q9UPP1	p.Phe315Ser	rs121918524	missense variant	Siderius x-linked mental retardation syndrome (mrxssd)	NC_000023.11:g.54011232A>G	-
PHF8	Q9UPP1	p.Phe315Ser	RCV000011547	missense variant	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.54011232A>G	ClinVar
PHF8	Q9UPP1	p.Ser322Tyr	rs1557106677	missense variant	-	NC_000023.11:g.54011211G>T	gnomAD
PHF8	Q9UPP1	p.Met327Ile	rs1385836906	missense variant	-	NC_000023.11:g.54011195C>G	TOPMed
PHF8	Q9UPP1	p.Met327Thr	rs1157683205	missense variant	-	NC_000023.11:g.54011196A>G	TOPMed,gnomAD
PHF8	Q9UPP1	p.Phe328Leu	NCI-TCGA novel	missense variant	-	chrX:g.54011192G>T	NCI-TCGA
PHF8	Q9UPP1	p.Gln332Arg	rs1458715289	missense variant	-	NC_000023.11:g.54011181T>C	TOPMed
PHF8	Q9UPP1	p.Lys338Arg	rs1318945224	missense variant	-	NC_000023.11:g.54011163T>C	TOPMed,gnomAD
PHF8	Q9UPP1	p.Ser340Cys	rs1330282075	missense variant	-	NC_000023.11:g.54011157G>C	TOPMed,gnomAD
PHF8	Q9UPP1	p.Lys342Met	NCI-TCGA novel	missense variant	-	chrX:g.54011151T>A	NCI-TCGA
PHF8	Q9UPP1	p.Lys342AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.54011150C>-	NCI-TCGA
PHF8	Q9UPP1	p.Ile349Thr	COSM4110243	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54011130A>G	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Pro350His	COSM1123276	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54011127G>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Thr351Ile	rs1273296079	missense variant	-	NC_000023.11:g.54011124G>A	TOPMed
PHF8	Q9UPP1	p.His355Tyr	NCI-TCGA novel	missense variant	-	chrX:g.54002674G>A	NCI-TCGA
PHF8	Q9UPP1	p.Pro360Ser	rs1557104449	missense variant	-	NC_000023.11:g.54002659G>A	gnomAD
PHF8	Q9UPP1	p.Phe366Val	COSM1472216	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002641A>C	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Gln379His	COSM1123275	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002600C>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Ser390Asn	NCI-TCGA novel	missense variant	-	chrX:g.54002235C>T	NCI-TCGA
PHF8	Q9UPP1	p.Asn399Ser	rs1557104376	missense variant	-	NC_000023.11:g.54002208T>C	gnomAD
PHF8	Q9UPP1	p.Glu401Gln	NCI-TCGA novel	missense variant	-	chrX:g.54002203C>G	NCI-TCGA
PHF8	Q9UPP1	p.Leu412Met	COSM294699	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002170G>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Asp413Glu	rs1557104367	missense variant	-	NC_000023.11:g.54002165G>C	gnomAD
PHF8	Q9UPP1	p.Arg416Cys	COSM4110239	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002158G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Gly417Ser	COSM1491108	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002155C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Gly417Arg	COSM1123273	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.54002155C>G	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg419Gln	COSM1491105	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53999955C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Glu420Lys	rs781838152	missense variant	-	NC_000023.11:g.53999953C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Glu420Asp	NCI-TCGA novel	missense variant	-	chrX:g.53999951C>A	NCI-TCGA
PHF8	Q9UPP1	p.Arg423Lys	NCI-TCGA novel	missense variant	-	chrX:g.53999943C>T	NCI-TCGA
PHF8	Q9UPP1	p.Tyr428Phe	rs1557103837	missense variant	-	NC_000023.11:g.53999928T>A	gnomAD
PHF8	Q9UPP1	p.His431Arg	rs1424280192	missense variant	-	NC_000023.11:g.53999919T>C	TOPMed
PHF8	Q9UPP1	p.Arg441Lys	rs782129608	missense variant	-	NC_000023.11:g.53999889C>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ala442Ser	COSM4110235	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53999887C>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg445Met	rs782018713	missense variant	-	NC_000023.11:g.53999877C>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Ala448Thr	rs1557102680	missense variant	-	NC_000023.11:g.53995782C>T	gnomAD
PHF8	Q9UPP1	p.Ala448Val	rs1557102675	missense variant	-	NC_000023.11:g.53995781G>A	gnomAD
PHF8	Q9UPP1	p.Pro450Ser	rs1277147445	missense variant	-	NC_000023.11:g.53995776G>A	TOPMed
PHF8	Q9UPP1	p.Asp451Tyr	NCI-TCGA novel	missense variant	-	chrX:g.53995773C>A	NCI-TCGA
PHF8	Q9UPP1	p.Asp451Glu	NCI-TCGA novel	missense variant	-	chrX:g.53995771G>T	NCI-TCGA
PHF8	Q9UPP1	p.His452Tyr	COSM1151672	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53995770G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Glu453Lys	COSM4826261	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53995767C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Glu455Lys	COSM4832149	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53995761C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Pro457Leu	NCI-TCGA novel	missense variant	-	chrX:g.53995754G>A	NCI-TCGA
PHF8	Q9UPP1	p.Arg461Gln	rs782618134	missense variant	-	chrX:g.53995742C>T	NCI-TCGA
PHF8	Q9UPP1	p.Arg461Gln	rs782618134	missense variant	-	NC_000023.11:g.53995742C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Val463Ile	rs1557102640	missense variant	-	NC_000023.11:g.53995737C>T	gnomAD
PHF8	Q9UPP1	p.Val463Ile	COSM1155424	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53995737C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg471Lys	NCI-TCGA novel	missense variant	-	chrX:g.53995712C>T	NCI-TCGA
PHF8	Q9UPP1	p.Arg474His	rs781871345	missense variant	-	NC_000023.11:g.53995703C>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Phe480Val	rs1418872192	missense variant	-	NC_000023.11:g.53993897A>C	TOPMed
PHF8	Q9UPP1	p.Val484Ile	rs1557102151	missense variant	-	NC_000023.11:g.53993885C>T	gnomAD
PHF8	Q9UPP1	p.Val484Ile	NCI-TCGA novel	missense variant	-	chrX:g.53993885C>T	NCI-TCGA
PHF8	Q9UPP1	p.Val484Asp	NCI-TCGA novel	missense variant	-	chrX:g.53993884A>T	NCI-TCGA
PHF8	Q9UPP1	p.Val484Ala	RCV000481966	missense variant	-	NC_000023.11:g.53993884A>G	ClinVar
PHF8	Q9UPP1	p.Val484Ala	rs1064796692	missense variant	-	NC_000023.11:g.53993884A>G	gnomAD
PHF8	Q9UPP1	p.Gly485Glu	rs1408762293	missense variant	-	NC_000023.11:g.53993881C>T	TOPMed
PHF8	Q9UPP1	p.Thr487Met	rs933827080	missense variant	-	NC_000023.11:g.53993875G>A	TOPMed,gnomAD
PHF8	Q9UPP1	p.Thr487Met	COSM3786753	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53993875G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Asn489Ser	rs1355515772	missense variant	-	NC_000023.11:g.53993869T>C	TOPMed,gnomAD
PHF8	Q9UPP1	p.Phe491Val	rs782563657	missense variant	-	NC_000023.11:g.53993864A>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Phe491Ser	rs782471251	missense variant	-	NC_000023.11:g.53993863A>G	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ile496Asn	rs782396701	missense variant	-	NC_000023.11:g.53993848A>T	ExAC
PHF8	Q9UPP1	p.Pro498Ser	rs138652719	missense variant	-	NC_000023.11:g.53993843G>A	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Pro498Ala	rs138652719	missense variant	-	NC_000023.11:g.53993843G>C	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Gly500Asp	rs1557102090	missense variant	-	NC_000023.11:g.53993836C>T	gnomAD
PHF8	Q9UPP1	p.Gly500Ser	rs1557102092	missense variant	-	NC_000023.11:g.53993837C>T	gnomAD
PHF8	Q9UPP1	p.Pro503Ser	rs1557102080	missense variant	-	NC_000023.11:g.53993828G>A	gnomAD
PHF8	Q9UPP1	p.Leu504Pro	rs782041523	missense variant	-	NC_000023.11:g.53993824A>G	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Leu504Val	rs782806150	missense variant	-	NC_000023.11:g.53993825G>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg506Gly	rs782718299	missense variant	-	NC_000023.11:g.53993819T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Pro507Thr	rs782095574	missense variant	-	NC_000023.11:g.53993816G>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Pro507Ala	rs782095574	missense variant	-	NC_000023.11:g.53993816G>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Met515Val	rs781836614	missense variant	-	NC_000023.11:g.53993792T>C	1000Genomes
PHF8	Q9UPP1	p.Ser519Leu	rs976611025	missense variant	-	NC_000023.11:g.53993779G>A	gnomAD
PHF8	Q9UPP1	p.Pro521His	rs782552233	missense variant	-	NC_000023.11:g.53993773G>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Ser522Phe	NCI-TCGA novel	missense variant	-	chrX:g.53993770G>A	NCI-TCGA
PHF8	Q9UPP1	p.Lys523Arg	rs782152137	missense variant	-	NC_000023.11:g.53993767T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Gly525Ser	COSM6119499	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53993762C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Lys528Glu	rs782313651	missense variant	-	NC_000023.11:g.53993753T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Lys529Asn	rs782194855	missense variant	-	NC_000023.11:g.53993748T>G	ExAC,gnomAD
PHF8	Q9UPP1	p.Gly530Asp	NCI-TCGA novel	missense variant	-	chrX:g.53993746C>T	NCI-TCGA
PHF8	Q9UPP1	p.Pro533Ser	rs1557102044	missense variant	-	NC_000023.11:g.53993738G>A	gnomAD
PHF8	Q9UPP1	p.Glu535Gly	rs1557102040	missense variant	-	NC_000023.11:g.53993731T>C	gnomAD
PHF8	Q9UPP1	p.Ala540Pro	NCI-TCGA novel	missense variant	-	chrX:g.53993717C>G	NCI-TCGA
PHF8	Q9UPP1	p.Glu541Lys	rs1557102037	missense variant	-	NC_000023.11:g.53993714C>T	gnomAD
PHF8	Q9UPP1	p.Arg542Ter	rs1311403191	stop gained	-	NC_000023.11:g.53993711G>A	TOPMed
PHF8	Q9UPP1	p.Arg542Gln	rs183611806	missense variant	-	NC_000023.11:g.53993710C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg542Leu	NCI-TCGA novel	missense variant	-	chrX:g.53993710C>A	NCI-TCGA
PHF8	Q9UPP1	p.Arg542Gln	rs183611806	missense variant	-	chrX:g.53993710C>T	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Lys543Asn	rs782250508	missense variant	-	NC_000023.11:g.53993706C>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Gly544Asp	rs1557102022	missense variant	-	NC_000023.11:g.53993704C>T	gnomAD
PHF8	Q9UPP1	p.Ala549Asp	rs1557102015	missense variant	-	NC_000023.11:g.53993689G>T	gnomAD
PHF8	Q9UPP1	p.Ala549Thr	COSM1491102	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53993690C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Gly551Arg	rs782657617	missense variant	-	NC_000023.11:g.53993684C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Gln555Arg	rs782547411	missense variant	-	NC_000023.11:g.53993671T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Tyr558Cys	rs1557102004	missense variant	-	NC_000023.11:g.53993662T>C	gnomAD
PHF8	Q9UPP1	p.Met561Val	rs781784469	missense variant	-	NC_000023.11:g.53993654T>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asp562Gly	NCI-TCGA novel	missense variant	-	chrX:g.53993650T>C	NCI-TCGA
PHF8	Q9UPP1	p.Thr563Ile	rs1557101996	missense variant	-	NC_000023.11:g.53993647G>A	gnomAD
PHF8	Q9UPP1	p.Ser565Arg	rs1557101992	missense variant	-	NC_000023.11:g.53993640A>C	gnomAD
PHF8	Q9UPP1	p.Ser565Asn	RCV000117908	missense variant	-	NC_000023.11:g.53993641C>T	ClinVar
PHF8	Q9UPP1	p.Ser565Asn	rs587780415	missense variant	-	NC_000023.11:g.53993641C>T	-
PHF8	Q9UPP1	p.Gln567Ter	NCI-TCGA novel	stop gained	-	chrX:g.53993636G>A	NCI-TCGA
PHF8	Q9UPP1	p.Gly572Ala	COSM4110228	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53993620C>G	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Phe574Ser	rs1557101979	missense variant	-	NC_000023.11:g.53993614A>G	gnomAD
PHF8	Q9UPP1	p.Gln575Ter	rs1557101975	stop gained	-	NC_000023.11:g.53993612G>A	gnomAD
PHF8	Q9UPP1	p.Asn580Ser	rs782108278	missense variant	-	NC_000023.11:g.53992835T>C	TOPMed
PHF8	Q9UPP1	p.Thr582Ala	rs1557101765	missense variant	-	NC_000023.11:g.53992830T>C	gnomAD
PHF8	Q9UPP1	p.Thr582Ile	rs1557101760	missense variant	-	NC_000023.11:g.53992829G>A	gnomAD
PHF8	Q9UPP1	p.Gly583Ser	rs1403027931	missense variant	-	NC_000023.11:g.53992827C>T	TOPMed,gnomAD
PHF8	Q9UPP1	p.Asn587Ser	rs781913201	missense variant	-	NC_000023.11:g.53992814T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Asp588Tyr	NCI-TCGA novel	missense variant	-	chrX:g.53992812C>A	NCI-TCGA
PHF8	Q9UPP1	p.Asp588Asn	rs1381659844	missense variant	-	NC_000023.11:g.53992812C>T	TOPMed
PHF8	Q9UPP1	p.Asp590Tyr	COSM1123272	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53992806C>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Asp590Asn	COSM4110224	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53992806C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Asp592Asn	rs141809675	missense variant	-	NC_000023.11:g.53992800C>T	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asp592Tyr	COSM1468631	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53992800C>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Pro594Leu	NCI-TCGA novel	missense variant	-	chrX:g.53992793G>A	NCI-TCGA
PHF8	Q9UPP1	p.Asp595Asn	rs782614873	missense variant	-	NC_000023.11:g.53992791C>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asp597Asn	rs1557101745	missense variant	-	NC_000023.11:g.53992785C>T	gnomAD
PHF8	Q9UPP1	p.Glu602Gly	rs782492754	missense variant	-	NC_000023.11:g.53992769T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Pro604Ala	rs376393889	missense variant	-	NC_000023.11:g.53992764G>C	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Pro604Ser	rs376393889	missense variant	-	NC_000023.11:g.53992764G>A	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ala606Ser	rs1557101725	missense variant	-	NC_000023.11:g.53992758C>A	gnomAD
PHF8	Q9UPP1	p.Met609Leu	rs781792100	missense variant	-	NC_000023.11:g.53992749T>A	ExAC
PHF8	Q9UPP1	p.Gly612Ser	RCV000512924	missense variant	-	NC_000023.11:g.53992740C>T	ClinVar
PHF8	Q9UPP1	p.Gly612Ser	rs782502760	missense variant	-	NC_000023.11:g.53992740C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Thr614Met	rs373224451	missense variant	-	NC_000023.11:g.53987942G>A	ESP,ExAC,gnomAD
PHF8	Q9UPP1	p.Thr614Met	rs373224451	missense variant	-	chrX:g.53987942G>A	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Thr614Ala	COSM115817	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53987943T>C	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg616Thr	COSM3562435	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53987936C>G	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Val617Leu	rs781851454	missense variant	-	NC_000023.11:g.53987934C>G	ExAC,gnomAD
PHF8	Q9UPP1	p.Leu620Val	NCI-TCGA novel	missense variant	-	chrX:g.53987925A>C	NCI-TCGA
PHF8	Q9UPP1	p.Lys622Arg	rs1557100198	missense variant	-	NC_000023.11:g.53987918T>C	gnomAD
PHF8	Q9UPP1	p.Lys622Asn	rs1371545200	missense variant	-	NC_000023.11:g.53987917T>A	TOPMed
PHF8	Q9UPP1	p.Arg624Trp	rs782148797	missense variant	-	NC_000023.11:g.53987913G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg624Gln	rs782032908	missense variant	-	NC_000023.11:g.53987912C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg625Gln	rs781834757	missense variant	-	NC_000023.11:g.53987909C>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Thr626Ser	rs1284590610	missense variant	-	NC_000023.11:g.53987906G>C	TOPMed
PHF8	Q9UPP1	p.Lys627Asn	rs1557100178	missense variant	-	NC_000023.11:g.53987902C>A	gnomAD
PHF8	Q9UPP1	p.Lys630Glu	rs1557100172	missense variant	-	NC_000023.11:g.53987895T>C	gnomAD
PHF8	Q9UPP1	p.Val632Leu	rs1358275323	missense variant	-	NC_000023.11:g.53987889C>A	TOPMed
PHF8	Q9UPP1	p.Asp633Gly	NCI-TCGA novel	missense variant	-	chrX:g.53987885T>C	NCI-TCGA
PHF8	Q9UPP1	p.Arg636Lys	rs1557100152	missense variant	-	NC_000023.11:g.53987876C>T	gnomAD
PHF8	Q9UPP1	p.Leu637Val	rs782363065	missense variant	-	NC_000023.11:g.53987874G>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Met638Val	rs1180918252	missense variant	-	NC_000023.11:g.53987871T>C	TOPMed,gnomAD
PHF8	Q9UPP1	p.Asp645Gly	rs1557100129	missense variant	-	NC_000023.11:g.53987849T>C	gnomAD
PHF8	Q9UPP1	p.Glu646Lys	rs782656960	missense variant	-	NC_000023.11:g.53987847C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Glu646Lys	rs782656960	missense variant	-	chrX:g.53987847C>T	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Asp648His	rs782411309	missense variant	-	NC_000023.11:g.53987841C>G	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asp648His	rs782411309	missense variant	-	chrX:g.53987841C>G	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Glu654Asp	rs1557100101	missense variant	-	NC_000023.11:g.53987821C>G	gnomAD
PHF8	Q9UPP1	p.Leu655Pro	rs1177569968	missense variant	-	NC_000023.11:g.53987819A>G	TOPMed
PHF8	Q9UPP1	p.Ile657Leu	rs782587670	missense variant	-	NC_000023.11:g.53987814T>G	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ile657Val	rs782587670	missense variant	-	NC_000023.11:g.53987814T>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Glu659Lys	rs781833925	missense variant	-	NC_000023.11:g.53987808C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg660Thr	rs1367487679	missense variant	-	NC_000023.11:g.53987804C>G	TOPMed
PHF8	Q9UPP1	p.Ala666Val	COSM4110216	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53987786G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Leu668Met	rs1328702589	missense variant	-	NC_000023.11:g.53987781G>T	TOPMed
PHF8	Q9UPP1	p.Ile669Val	COSM1123271	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53987778T>C	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Ile669Met	rs1557100066	missense variant	-	NC_000023.11:g.53987776T>C	gnomAD
PHF8	Q9UPP1	p.Ile670Arg	rs782620271	missense variant	-	NC_000023.11:g.53987774A>C	ExAC
PHF8	Q9UPP1	p.Arg671Thr	rs1353255685	missense variant	-	NC_000023.11:g.53987771C>G	TOPMed
PHF8	Q9UPP1	p.Pro675Ser	rs1418916376	missense variant	-	NC_000023.11:g.53987158G>A	TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg676Trp	rs782204549	missense variant	-	chrX:g.53987155G>A	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg676Trp	rs782204549	missense variant	-	NC_000023.11:g.53987155G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg676Gln	rs782604120	missense variant	-	NC_000023.11:g.53987154C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Ala681Val	rs782374199	missense variant	-	NC_000023.11:g.53987139G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Cys684Phe	rs1557099782	missense variant	-	NC_000023.11:g.53987130C>A	gnomAD
PHF8	Q9UPP1	p.Pro687Thr	rs1557099780	missense variant	-	NC_000023.11:g.53987122G>T	gnomAD
PHF8	Q9UPP1	p.Asn688Thr	rs1439895633	missense variant	-	NC_000023.11:g.53987118T>G	TOPMed
PHF8	Q9UPP1	p.Asn688Tyr	rs1557099776	missense variant	-	NC_000023.11:g.53987119T>A	gnomAD
PHF8	Q9UPP1	p.Arg689Gln	NCI-TCGA novel	missense variant	-	chrX:g.53987115C>T	NCI-TCGA
PHF8	Q9UPP1	p.Arg691Cys	NCI-TCGA novel	missense variant	-	chrX:g.53987110G>A	NCI-TCGA
PHF8	Q9UPP1	p.Tyr704Cys	rs781998944	missense variant	-	NC_000023.11:g.53985942T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Met710Val	rs782287951	missense variant	-	NC_000023.11:g.53985925T>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Lys717Asn	rs781919600	missense variant	-	NC_000023.11:g.53985902C>A	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asn720Tyr	rs1267260068	missense variant	-	NC_000023.11:g.53985895T>A	TOPMed
PHF8	Q9UPP1	p.Gly721Val	rs1557099433	missense variant	-	NC_000023.11:g.53985891C>A	gnomAD
PHF8	Q9UPP1	p.Gly721Val	NCI-TCGA novel	missense variant	-	chrX:g.53985891C>A	NCI-TCGA
PHF8	Q9UPP1	p.Gly723Ala	rs782329330	missense variant	-	NC_000023.11:g.53985885C>G	ExAC,gnomAD
PHF8	Q9UPP1	p.Ala724Ser	rs782217443	missense variant	-	NC_000023.11:g.53985883C>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Ala724Thr	rs782217443	missense variant	-	NC_000023.11:g.53985883C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Ile727Val	COSM1648299	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985874T>C	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Leu728Ile	COSM3845079	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985871G>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Asp729Gly	NCI-TCGA novel	missense variant	-	chrX:g.53985867T>C	NCI-TCGA
PHF8	Q9UPP1	p.Leu730Met	COSM6119502	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985865G>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Leu731Phe	COSM1123269	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985862G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Gly738Ala	NCI-TCGA novel	missense variant	-	chrX:g.53985840C>G	NCI-TCGA
PHF8	Q9UPP1	p.Gly739AspPheSerTerUnkUnkUnk	COSM1468626	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.53985837C>-	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Tyr742Cys	rs782680617	missense variant	-	NC_000023.11:g.53985828T>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Tyr742Ser	rs782680617	missense variant	-	NC_000023.11:g.53985828T>G	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ala743Ser	NCI-TCGA novel	missense variant	-	chrX:g.53985826C>A	NCI-TCGA
PHF8	Q9UPP1	p.Ala744Thr	rs1469268360	missense variant	-	NC_000023.11:g.53985823C>T	TOPMed
PHF8	Q9UPP1	p.Leu745Phe	rs1557099407	missense variant	-	NC_000023.11:g.53985820G>A	gnomAD
PHF8	Q9UPP1	p.Thr746Ile	rs367984813	missense variant	-	NC_000023.11:g.53985816G>A	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Glu747Ala	rs781837094	missense variant	-	NC_000023.11:g.53985225T>G	ExAC,gnomAD
PHF8	Q9UPP1	p.Glu747Lys	rs41306749	missense variant	-	chrX:g.53985226C>T	NCI-TCGA
PHF8	Q9UPP1	p.Glu747Lys	rs41306749	missense variant	-	NC_000023.11:g.53985226C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Glu747Lys	RCV000717063	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.53985226C>T	ClinVar
PHF8	Q9UPP1	p.Gln768Leu	rs781949615	missense variant	-	NC_000023.11:g.53985162T>A	1000Genomes,gnomAD
PHF8	Q9UPP1	p.Ser769Ala	rs1557099179	missense variant	-	NC_000023.11:g.53985160A>C	gnomAD
PHF8	Q9UPP1	p.Ser771Leu	rs377130882	missense variant	-	NC_000023.11:g.53985153G>A	TOPMed
PHF8	Q9UPP1	p.Ser771Leu	rs377130882	missense variant	-	chrX:g.53985153G>A	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Ser773Ter	RCV000175335	nonsense	-	NC_000023.11:g.53985147G>C	ClinVar
PHF8	Q9UPP1	p.Ser773Ter	rs797044665	stop gained	-	NC_000023.11:g.53985147G>C	-
PHF8	Q9UPP1	p.Pro774Leu	rs781994342	missense variant	-	NC_000023.11:g.53985144G>A	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Thr776Ala	rs782219792	missense variant	-	NC_000023.11:g.53985139T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Ser777Cys	COSM6187845	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985135G>C	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Ser778Ter	RCV000624543	frameshift	Inborn genetic diseases	NC_000023.11:g.53985132dup	ClinVar
PHF8	Q9UPP1	p.Thr784Ile	rs1557099137	missense variant	-	NC_000023.11:g.53985114G>A	gnomAD
PHF8	Q9UPP1	p.Gly785Arg	rs1218634086	missense variant	-	NC_000023.11:g.53985112C>T	TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg789Gln	RCV000662041	missense variant	Siderius X-linked mental retardation syndrome (MRXSSD)	NC_000023.11:g.53985099C>T	ClinVar
PHF8	Q9UPP1	p.Arg789Gln	COSM3562423	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985099C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg789Gln	rs1263803925	missense variant	-	NC_000023.11:g.53985099C>T	TOPMed
PHF8	Q9UPP1	p.Ser794Cys	rs782358878	missense variant	-	NC_000023.11:g.53985084G>C	1000Genomes,ExAC,gnomAD
PHF8	Q9UPP1	p.Ser795Thr	rs782659079	missense variant	-	NC_000023.11:g.53985081C>G	ExAC,gnomAD
PHF8	Q9UPP1	p.Leu798Met	rs782530078	missense variant	-	NC_000023.11:g.53985073G>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Thr800Lys	rs368382160	missense variant	-	NC_000023.11:g.53985066G>T	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Thr800Ala	rs781852949	missense variant	-	NC_000023.11:g.53985067T>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Thr800Pro	rs781852949	missense variant	-	NC_000023.11:g.53985067T>G	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asn803Asp	rs199974926	missense variant	-	NC_000023.11:g.53985058T>C	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Pro805Leu	rs1557099111	missense variant	-	NC_000023.11:g.53985051G>A	gnomAD
PHF8	Q9UPP1	p.Pro805Leu	COSM4942268	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53985051G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Arg809His	rs371107125	missense variant	-	NC_000023.11:g.53985039C>T	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg809Ser	rs782160964	missense variant	-	NC_000023.11:g.53985040G>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg809Cys	rs782160964	missense variant	-	NC_000023.11:g.53985040G>A	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg809His	rs371107125	missense variant	-	chrX:g.53985039C>T	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Pro811Thr	rs1557099098	missense variant	-	NC_000023.11:g.53985034G>T	gnomAD
PHF8	Q9UPP1	p.Arg814Trp	rs1050459941	missense variant	-	NC_000023.11:g.53985025G>A	gnomAD
PHF8	Q9UPP1	p.Arg814Gln	rs782762274	missense variant	-	NC_000023.11:g.53985024C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg814Trp	NCI-TCGA novel	missense variant	-	chrX:g.53985025G>A	NCI-TCGA
PHF8	Q9UPP1	p.Pro815Leu	rs1557099079	missense variant	-	NC_000023.11:g.53985021G>A	gnomAD
PHF8	Q9UPP1	p.Arg818Gln	RCV000503828	missense variant	-	NC_000023.11:g.53985012C>T	ClinVar
PHF8	Q9UPP1	p.Arg818Gln	rs782358977	missense variant	-	chrX:g.53985012C>T	NCI-TCGA
PHF8	Q9UPP1	p.Arg818Gln	rs782358977	missense variant	-	NC_000023.11:g.53985012C>T	ExAC
PHF8	Q9UPP1	p.Arg818Trp	rs1557099077	missense variant	-	NC_000023.11:g.53985013G>A	gnomAD
PHF8	Q9UPP1	p.Pro819Gln	rs782330912	missense variant	-	NC_000023.11:g.53985009G>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Pro819Leu	rs782330912	missense variant	-	NC_000023.11:g.53985009G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Trp822Cys	COSM72167	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53984999C>G	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Thr824Ser	rs1557099064	missense variant	-	NC_000023.11:g.53984994G>C	gnomAD
PHF8	Q9UPP1	p.Glu825Lys	rs782056855	missense variant	-	chrX:g.53984992C>T	NCI-TCGA,NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Glu825Lys	rs782056855	missense variant	-	NC_000023.11:g.53984992C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Ser826Gly	rs143505141	missense variant	-	NC_000023.11:g.53984989T>C	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asn832Lys	rs377571096	missense variant	-	NC_000023.11:g.53984969G>T	ESP,ExAC,gnomAD
PHF8	Q9UPP1	p.Ala833Thr	rs201268268	missense variant	-	NC_000023.11:g.53984968C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ser834Ile	rs782352408	missense variant	-	NC_000023.11:g.53984964C>A	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Leu835Met	rs1557099025	missense variant	-	NC_000023.11:g.53984962G>T	gnomAD
PHF8	Q9UPP1	p.Gln838Pro	RCV000717202	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.53984952T>G	ClinVar
PHF8	Q9UPP1	p.Asp859Glu	rs1557091326	missense variant	-	NC_000023.11:g.53962914A>C	gnomAD
PHF8	Q9UPP1	p.Asp859Gly	rs782172985	missense variant	-	NC_000023.11:g.53962915T>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Pro862Ser	rs1460758361	missense variant	-	NC_000023.11:g.53962907G>A	TOPMed
PHF8	Q9UPP1	p.Arg867Gln	NCI-TCGA novel	missense variant	-	chrX:g.53962891C>T	NCI-TCGA
PHF8	Q9UPP1	p.Lys869Asn	NCI-TCGA novel	missense variant	-	chrX:g.53962884C>A	NCI-TCGA
PHF8	Q9UPP1	p.Lys872Asn	rs1291616984	missense variant	-	NC_000023.11:g.53962875C>A	TOPMed
PHF8	Q9UPP1	p.Ser874Thr	rs1369444518	missense variant	-	NC_000023.11:g.53962871A>T	TOPMed
PHF8	Q9UPP1	p.Ala877Thr	rs1557091300	missense variant	-	NC_000023.11:g.53962862C>T	gnomAD
PHF8	Q9UPP1	p.Pro878Thr	COSM1331785	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53962859G>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Trp879Ter	rs189840768	stop gained	-	NC_000023.11:g.53962855C>T	1000Genomes,ExAC,gnomAD
PHF8	Q9UPP1	p.Ser880Cys	rs1349963916	missense variant	-	NC_000023.11:g.53962853T>A	TOPMed
PHF8	Q9UPP1	p.Arg884Gly	rs1557084451	missense variant	-	NC_000023.11:g.53944241G>C	gnomAD
PHF8	Q9UPP1	p.Thr886Ile	rs1557084439	missense variant	-	NC_000023.11:g.53944234G>A	gnomAD
PHF8	Q9UPP1	p.Pro890Leu	rs781843717	missense variant	-	chrX:g.53944222G>A	NCI-TCGA
PHF8	Q9UPP1	p.Pro890Leu	rs781843717	missense variant	-	NC_000023.11:g.53944222G>A	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg894Cys	rs1557084429	missense variant	-	NC_000023.11:g.53944211G>A	-
PHF8	Q9UPP1	p.Arg894Cys	NCI-TCGA novel	missense variant	-	chrX:g.53944211G>A	NCI-TCGA
PHF8	Q9UPP1	p.Arg894Cys	RCV000497404	missense variant	-	NC_000023.11:g.53944211G>A	ClinVar
PHF8	Q9UPP1	p.Val896Met	rs200978006	missense variant	-	NC_000023.11:g.53944205C>T	TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg897His	NCI-TCGA novel	missense variant	-	chrX:g.53944201C>T	NCI-TCGA
PHF8	Q9UPP1	p.Arg901Trp	COSM1123265	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53944190G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Val902Leu	rs781914925	missense variant	-	NC_000023.11:g.53944187C>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Ser904Tyr	NCI-TCGA novel	missense variant	-	chrX:g.53944180G>T	NCI-TCGA
PHF8	Q9UPP1	p.Ala911Val	rs782139128	missense variant	-	NC_000023.11:g.53944159G>A	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Ala914Thr	NCI-TCGA novel	missense variant	-	chrX:g.53944151C>T	NCI-TCGA
PHF8	Q9UPP1	p.Glu920Gly	NCI-TCGA novel	missense variant	-	chrX:g.53940515T>C	NCI-TCGA
PHF8	Q9UPP1	p.Leu921Val	rs1359846876	missense variant	-	NC_000023.11:g.53940513G>C	TOPMed
PHF8	Q9UPP1	p.Gln922His	NCI-TCGA novel	missense variant	-	chrX:g.53940508C>A	NCI-TCGA
PHF8	Q9UPP1	p.Tyr929Cys	rs1557083191	missense variant	-	NC_000023.11:g.53940488T>C	gnomAD
PHF8	Q9UPP1	p.Ile930Val	rs782040295	missense variant	-	NC_000023.11:g.53940486T>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Glu938Gly	rs782366570	missense variant	-	NC_000023.11:g.53940461T>C	1000Genomes,ExAC,gnomAD
PHF8	Q9UPP1	p.Glu938Lys	rs782610068	missense variant	-	NC_000023.11:g.53940462C>T	1000Genomes,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Val939Leu	rs1221408845	missense variant	-	NC_000023.11:g.53940459C>A	TOPMed
PHF8	Q9UPP1	p.Pro942Ser	rs1261531389	missense variant	-	NC_000023.11:g.53940450G>A	TOPMed
PHF8	Q9UPP1	p.Arg943Leu	rs142630105	missense variant	-	NC_000023.11:g.53940446C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg943His	RCV000718055	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.53940446C>T	ClinVar
PHF8	Q9UPP1	p.Arg943His	rs142630105	missense variant	-	NC_000023.11:g.53940446C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg943His	RCV000193434	missense variant	-	NC_000023.11:g.53940446C>T	ClinVar
PHF8	Q9UPP1	p.Asp946Tyr	NCI-TCGA novel	missense variant	-	chrX:g.53940438C>A	NCI-TCGA
PHF8	Q9UPP1	p.Asp946Asn	COSM3845076	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940438C>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Leu949Pro	rs1557083166	missense variant	-	NC_000023.11:g.53940428A>G	gnomAD
PHF8	Q9UPP1	p.Leu951Val	NCI-TCGA novel	missense variant	-	chrX:g.53940423G>C	NCI-TCGA
PHF8	Q9UPP1	p.Thr952Ser	COSM1491098	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940420T>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Ala955Val	rs1210929361	missense variant	-	NC_000023.11:g.53940410G>A	TOPMed
PHF8	Q9UPP1	p.Thr957Ala	rs782215609	missense variant	-	NC_000023.11:g.53940405T>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Thr957Pro	NCI-TCGA novel	missense variant	-	chrX:g.53940405T>G	NCI-TCGA
PHF8	Q9UPP1	p.Val958Met	rs1188772356	missense variant	-	NC_000023.11:g.53940402C>T	TOPMed
PHF8	Q9UPP1	p.Thr966Ile	rs1557083120	missense variant	-	NC_000023.11:g.53940377G>A	gnomAD
PHF8	Q9UPP1	p.Ser968Phe	NCI-TCGA novel	missense variant	-	chrX:g.53940371G>A	NCI-TCGA
PHF8	Q9UPP1	p.Ser969del	VAR_076254	inframe_deletion	-	-	UniProt
PHF8	Q9UPP1	p.Pro970Leu	COSM3562420	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940365G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Pro974Ser	rs1430987347	missense variant	-	NC_000023.11:g.53940354G>A	TOPMed
PHF8	Q9UPP1	p.Glu975Gln	rs1414664364	missense variant	-	NC_000023.11:g.53940351C>G	TOPMed,gnomAD
PHF8	Q9UPP1	p.Ala980Val	rs782294878	missense variant	-	NC_000023.11:g.53940335G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Leu981Pro	rs782663410	missense variant	-	NC_000023.11:g.53940332A>G	ExAC,gnomAD
PHF8	Q9UPP1	p.Ser982Leu	rs1157813317	missense variant	-	NC_000023.11:g.53940329G>A	TOPMed
PHF8	Q9UPP1	p.Leu985Phe	rs1342892989	missense variant	-	NC_000023.11:g.53940321G>A	TOPMed
PHF8	Q9UPP1	p.Leu985Phe	RCV000717669	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.53940321G>A	ClinVar
PHF8	Q9UPP1	p.Leu985Ile	COSM1123263	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940321G>T	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Ala986Thr	rs782507813	missense variant	-	NC_000023.11:g.53940318C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Thr991Ala	rs969542561	missense variant	-	NC_000023.11:g.53940303T>C	gnomAD
PHF8	Q9UPP1	p.Arg993Cys	rs1364840429	missense variant	-	NC_000023.11:g.53940297G>A	TOPMed
PHF8	Q9UPP1	p.Arg993His	rs1557083045	missense variant	-	NC_000023.11:g.53940296C>T	gnomAD
PHF8	Q9UPP1	p.Met999Val	rs1557083041	missense variant	-	NC_000023.11:g.53940279T>C	gnomAD
PHF8	Q9UPP1	p.Ala1002Thr	rs1557083035	missense variant	-	NC_000023.11:g.53940270C>T	gnomAD
PHF8	Q9UPP1	p.Asn1003Lys	rs782604087	missense variant	-	NC_000023.11:g.53940265G>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asn1003Lys	rs782604087	missense variant	-	NC_000023.11:g.53940265G>C	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Asn1003Asp	rs147389956	missense variant	-	NC_000023.11:g.53940267T>C	ESP,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg1004His	rs1557083025	missense variant	-	NC_000023.11:g.53940263C>T	gnomAD
PHF8	Q9UPP1	p.Arg1004Cys	rs1220032301	missense variant	-	NC_000023.11:g.53940264G>A	TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg1004Cys	COSM4840027	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53940264G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Thr1006Ile	rs1557083020	missense variant	-	NC_000023.11:g.53940257G>A	gnomAD
PHF8	Q9UPP1	p.Arg1018Trp	rs782155225	missense variant	-	NC_000023.11:g.53940222G>A	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg1018Gln	rs781873999	missense variant	-	chrX:g.53940221C>T	NCI-TCGA
PHF8	Q9UPP1	p.Arg1018Gln	rs781873999	missense variant	-	NC_000023.11:g.53940221C>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg1019His	rs782781295	missense variant	-	NC_000023.11:g.53940218C>T	ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg1019Cys	rs1271484888	missense variant	-	NC_000023.11:g.53940219G>A	TOPMed,gnomAD
PHF8	Q9UPP1	p.Arg1019Ser	rs1271484888	missense variant	-	NC_000023.11:g.53940219G>T	TOPMed,gnomAD
PHF8	Q9UPP1	p.Pro1020Leu	rs782095354	missense variant	-	NC_000023.11:g.53940215G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Ser1021Pro	NCI-TCGA novel	missense variant	-	chrX:g.53940213A>G	NCI-TCGA
PHF8	Q9UPP1	p.Gly1023Ser	rs1176242486	missense variant	-	NC_000023.11:g.53940207C>T	TOPMed
PHF8	Q9UPP1	p.Ser1026Asn	rs1405281149	missense variant	-	NC_000023.11:g.53940197C>T	TOPMed,gnomAD
PHF8	Q9UPP1	p.Ser1026Arg	NCI-TCGA novel	missense variant	-	chrX:g.53940196G>T	NCI-TCGA
PHF8	Q9UPP1	p.Ser1026Asn	RCV000522929	missense variant	-	NC_000023.11:g.53940197C>T	ClinVar
PHF8	Q9UPP1	p.Asn1027Ser	rs1420385679	missense variant	-	NC_000023.11:g.53940194T>C	TOPMed,gnomAD
PHF8	Q9UPP1	p.Gly1030Val	rs1384546656	missense variant	-	NC_000023.11:g.53940185C>A	TOPMed
PHF8	Q9UPP1	p.Gly1030Arg	rs1158652040	missense variant	-	NC_000023.11:g.53940186C>T	TOPMed
PHF8	Q9UPP1	p.Gln1031Glu	rs781956654	missense variant	-	NC_000023.11:g.53940183G>C	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg1034Ser	rs781843080	missense variant	-	NC_000023.11:g.53939241G>T	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg1034Cys	rs781843080	missense variant	-	NC_000023.11:g.53939241G>A	ExAC,gnomAD
PHF8	Q9UPP1	p.Arg1034Cys	COSM1123262	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53939241G>A	NCI-TCGA Cosmic
PHF8	Q9UPP1	p.Leu1039Pro	NCI-TCGA novel	missense variant	-	chrX:g.53939225A>G	NCI-TCGA
PHF8	Q9UPP1	p.Ala1040Ser	NCI-TCGA novel	missense variant	-	chrX:g.53939223C>A	NCI-TCGA
PHF8	Q9UPP1	p.Gly1047Ser	NCI-TCGA novel	missense variant	-	chrX:g.53939202C>T	NCI-TCGA
PHF8	Q9UPP1	p.Arg1048His	rs1557082682	missense variant	-	NC_000023.11:g.53939198C>T	gnomAD
PHF8	Q9UPP1	p.Arg1054Ile	NCI-TCGA novel	missense variant	-	chrX:g.53939180C>A	NCI-TCGA
PHF8	Q9UPP1	p.Lys1057Arg	rs374264923	missense variant	-	NC_000023.11:g.53939171T>C	ESP,ExAC,TOPMed,gnomAD
PHF8	Q9UPP1	p.Leu1060Met	COSM1123261	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.53939163G>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Met1Val	RCV000578907	missense variant	-	NC_000002.12:g.199456037T>C	ClinVar
SATB2	Q9UPW6	p.Arg4Gln	rs1463296675	missense variant	-	NC_000002.12:g.199456027C>T	gnomAD
SATB2	Q9UPW6	p.Glu6Lys	rs1434320727	missense variant	-	NC_000002.12:g.199456022C>T	gnomAD
SATB2	Q9UPW6	p.Ser7Ter	RCV000519084	frameshift	-	NC_000002.12:g.199456019dup	ClinVar
SATB2	Q9UPW6	p.Ser7Ter	RCV000709933	frameshift	SATB2-Related Disorder	NC_000002.12:g.199456019dup	ClinVar
SATB2	Q9UPW6	p.Cys9Arg	rs1361158169	missense variant	-	NC_000002.12:g.199456013A>G	TOPMed
SATB2	Q9UPW6	p.Cys9Ser	rs1209144312	missense variant	-	NC_000002.12:g.199456012C>G	gnomAD
SATB2	Q9UPW6	p.Asp12Asn	rs1282358129	missense variant	-	NC_000002.12:g.199456004C>T	gnomAD
SATB2	Q9UPW6	p.Arg16Gln	rs1295030903	missense variant	-	NC_000002.12:g.199455991C>T	gnomAD
SATB2	Q9UPW6	p.Ser18Arg	rs747894251	missense variant	-	NC_000002.12:g.199455984G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Asp22Glu	rs1405630119	missense variant	-	NC_000002.12:g.199455972G>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys24Arg	rs1176416627	missense variant	-	NC_000002.12:g.199455967T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro26Ala	rs1473042227	missense variant	-	NC_000002.12:g.199455962G>C	gnomAD
SATB2	Q9UPW6	p.Pro27Ser	rs989025045	missense variant	-	NC_000002.12:g.199455959G>A	TOPMed
SATB2	Q9UPW6	p.Pro28Leu	rs1367686940	missense variant	-	NC_000002.12:g.199455955G>A	gnomAD
SATB2	Q9UPW6	p.Pro28Ter	RCV000394237	frameshift	-	NC_000002.12:g.199455959del	ClinVar
SATB2	Q9UPW6	p.Lys30Asn	rs1176548430	missense variant	-	NC_000002.12:g.199455948C>A	TOPMed
SATB2	Q9UPW6	p.Ala32Thr	rs1461281024	missense variant	-	NC_000002.12:g.199455944C>T	gnomAD
SATB2	Q9UPW6	p.Arg33Trp	rs1392839872	missense variant	-	NC_000002.12:g.199455941G>A	gnomAD
SATB2	Q9UPW6	p.Gln36His	rs1165492597	missense variant	-	NC_000002.12:g.199455930C>G	gnomAD
SATB2	Q9UPW6	p.Gly38Ser	rs1458922428	missense variant	-	NC_000002.12:g.199455926C>T	gnomAD
SATB2	Q9UPW6	p.Ser39Asn	rs1208341343	missense variant	-	NC_000002.12:g.199455922C>T	gnomAD
SATB2	Q9UPW6	p.Pro40Ser	rs1191904885	missense variant	-	NC_000002.12:g.199455920G>A	gnomAD
SATB2	Q9UPW6	p.Met41Val	rs919635073	missense variant	-	NC_000002.12:g.199455917T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Gly42Ter	rs1064793947	stop gained	-	NC_000002.12:g.199455914C>A	-
SATB2	Q9UPW6	p.Gly42Ter	RCV000486598	nonsense	-	NC_000002.12:g.199455914C>A	ClinVar
SATB2	Q9UPW6	p.Ala43Thr	rs1249539770	missense variant	-	NC_000002.12:g.199455911C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn48Ser	rs1467878282	missense variant	-	NC_000002.12:g.199455895T>C	gnomAD
SATB2	Q9UPW6	p.Asn48Asp	rs1188890432	missense variant	-	NC_000002.12:g.199455896T>C	gnomAD
SATB2	Q9UPW6	p.Val51Met	rs540871216	missense variant	-	NC_000002.12:g.199455887C>T	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala52Val	RCV000762309	missense variant	-	NC_000002.12:g.199455883G>A	ClinVar
SATB2	Q9UPW6	p.Ala52Val	rs1357016064	missense variant	-	NC_000002.12:g.199455883G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala54Ser	rs1446614613	missense variant	-	NC_000002.12:g.199455878C>A	TOPMed
SATB2	Q9UPW6	p.Val55Ala	rs1226310700	missense variant	-	NC_000002.12:g.199455874A>G	gnomAD
SATB2	Q9UPW6	p.Val55Met	rs748892556	missense variant	-	NC_000002.12:g.199455875C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val55Leu	rs748892556	missense variant	-	NC_000002.12:g.199455875C>G	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Met59Val	rs1478238325	missense variant	-	NC_000002.12:g.199433509T>C	gnomAD
SATB2	Q9UPW6	p.Pro61Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199433503G>A	NCI-TCGA
SATB2	Q9UPW6	p.Val62Asp	rs1064796649	missense variant	-	NC_000002.12:g.199433499A>T	-
SATB2	Q9UPW6	p.Val62Asp	RCV000479021	missense variant	-	NC_000002.12:g.199433499A>T	ClinVar
SATB2	Q9UPW6	p.Val65Ile	rs749125541	missense variant	-	NC_000002.12:g.199433491C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Val66Met	rs1252596825	missense variant	-	NC_000002.12:g.199433488C>T	gnomAD
SATB2	Q9UPW6	p.Leu69Met	rs745323861	missense variant	-	NC_000002.12:g.199433479A>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gly71Cys	rs756865617	missense variant	-	NC_000002.12:g.199433473C>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Gly71Ser	rs756865617	missense variant	-	NC_000002.12:g.199433473C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Gly71Val	COSM6089559	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433472C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ser72Pro	rs753249521	missense variant	-	NC_000002.12:g.199433470A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser72Cys	rs755238845	missense variant	-	NC_000002.12:g.199433469G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser72Tyr	rs755238845	missense variant	-	NC_000002.12:g.199433469G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser72Phe	COSM6089560	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433469G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Glu74Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199433464C>G	NCI-TCGA
SATB2	Q9UPW6	p.Tyr75Cys	rs750686286	missense variant	-	NC_000002.12:g.199433460T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Tyr75His	rs760905348	missense variant	-	NC_000002.12:g.199433461A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg78Lys	rs767582582	missense variant	-	NC_000002.12:g.199433451C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg78Thr	COSM6089561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433451C>G	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ala82Thr	COSM3425924	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433440C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Glu83Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199433437C>T	NCI-TCGA
SATB2	Q9UPW6	p.Phe84Val	rs548822205	missense variant	-	NC_000002.12:g.199433434A>C	1000Genomes
SATB2	Q9UPW6	p.Arg88Gln	rs530118484	missense variant	-	NC_000002.12:g.199433421C>T	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Arg88Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199433422G>C	NCI-TCGA
SATB2	Q9UPW6	p.Lys89Arg	rs769528257	missense variant	-	NC_000002.12:g.199433418T>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Leu92Pro	rs746334982	missense variant	-	NC_000002.12:g.199433409A>G	gnomAD
SATB2	Q9UPW6	p.Phe93LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199433405A>-	NCI-TCGA
SATB2	Q9UPW6	p.Leu96Arg	rs1064795247	missense variant	-	NC_000002.12:g.199433397A>C	-
SATB2	Q9UPW6	p.Leu96Arg	RCV000485845	missense variant	-	NC_000002.12:g.199433397A>C	ClinVar
SATB2	Q9UPW6	p.Leu96Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199433397A>G	NCI-TCGA
SATB2	Q9UPW6	p.Glu98Asp	COSM718602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433390C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Leu102Ter	RCV000585548	frameshift	-	NC_000002.12:g.199433379del	ClinVar
SATB2	Q9UPW6	p.His108Asp	COSM4844812	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199433362G>C	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.His108Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199433360G>C	NCI-TCGA
SATB2	Q9UPW6	p.Ala111Val	rs1376331026	missense variant	-	NC_000002.12:g.199433352G>A	gnomAD
SATB2	Q9UPW6	p.Ala111Val	rs1376331026	missense variant	-	NC_000002.12:g.199433352G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ala112Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199433349G>A	NCI-TCGA
SATB2	Q9UPW6	p.Gln113Ter	RCV000760901	nonsense	-	NC_000002.12:g.199433347G>A	ClinVar
SATB2	Q9UPW6	p.Gln115Ter	RCV000695069	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199433341G>A	ClinVar
SATB2	Q9UPW6	p.Gly116Arg	rs1131691672	missense variant	-	NC_000002.12:g.199433338C>G	-
SATB2	Q9UPW6	p.Gly116Arg	RCV000494383	missense variant	-	NC_000002.12:g.199433338C>G	ClinVar
SATB2	Q9UPW6	p.Lys119Asn	rs1185687010	missense variant	-	NC_000002.12:g.199381810C>A	TOPMed
SATB2	Q9UPW6	p.Gly121Ter	COSM6089562	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199381806C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Arg122Thr	rs1182083147	missense variant	-	NC_000002.12:g.199381802C>G	gnomAD
SATB2	Q9UPW6	p.Arg122Ter	RCV000598591	nonsense	-	NC_000002.12:g.199381799del	ClinVar
SATB2	Q9UPW6	p.Asn124Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199381796T>C	NCI-TCGA
SATB2	Q9UPW6	p.Leu126Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199381791G>C	NCI-TCGA
SATB2	Q9UPW6	p.Leu128SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199381785G>-	NCI-TCGA
SATB2	Q9UPW6	p.Tyr130Cys	rs372822699	missense variant	-	NC_000002.12:g.199381778T>C	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Tyr130His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199381779A>G	NCI-TCGA
SATB2	Q9UPW6	p.Val131Glu	rs1064794638	missense variant	-	NC_000002.12:g.199381775A>T	-
SATB2	Q9UPW6	p.Val131Glu	RCV000485195	missense variant	-	NC_000002.12:g.199381775A>T	ClinVar
SATB2	Q9UPW6	p.Asp133Tyr	COSM6089563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199381770C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Asp136Gly	COSM284793	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199381760T>C	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ala137Val	rs746240750	missense variant	-	NC_000002.12:g.199381757G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala137Thr	rs1454219036	missense variant	-	NC_000002.12:g.199381758C>T	TOPMed
SATB2	Q9UPW6	p.Asp141Glu	rs1401692784	missense variant	-	NC_000002.12:g.199381744G>T	gnomAD
SATB2	Q9UPW6	p.Asp141Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199381746C>T	NCI-TCGA
SATB2	Q9UPW6	p.Met142Ile	rs764205432	missense variant	-	NC_000002.12:g.199381741C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Met142Val	rs751779659	missense variant	-	NC_000002.12:g.199381743T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Val149Ala	rs765278258	missense variant	-	NC_000002.12:g.199381721A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val150Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199381718A>G	NCI-TCGA
SATB2	Q9UPW6	p.Thr151Met	rs1414878673	missense variant	-	NC_000002.12:g.199381715G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser158Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199381695T>C	NCI-TCGA
SATB2	Q9UPW6	p.Cys159Phe	COSM6089565	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199380485C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ser160Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199380483A>G	NCI-TCGA
SATB2	Q9UPW6	p.Ser160Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.199380482G>T	NCI-TCGA
SATB2	Q9UPW6	p.Lys161Arg	rs1360355424	missense variant	-	NC_000002.12:g.199380479T>C	gnomAD
SATB2	Q9UPW6	p.Lys161Ter	RCV000479959	frameshift	-	NC_000002.12:g.199380481del	ClinVar
SATB2	Q9UPW6	p.Glu163Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199380474C>T	NCI-TCGA
SATB2	Q9UPW6	p.Pro166His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199380464G>T	NCI-TCGA
SATB2	Q9UPW6	p.Pro166LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199380464G>-	NCI-TCGA
SATB2	Q9UPW6	p.Ala167Val	rs767084945	missense variant	-	NC_000002.12:g.199380461G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn171Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199380450T>C	NCI-TCGA
SATB2	Q9UPW6	p.His172Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199380445A>C	NCI-TCGA
SATB2	Q9UPW6	p.His172SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199380447_199380448insGTTCCACTGCT	NCI-TCGA
SATB2	Q9UPW6	p.Arg176His	rs1321695489	missense variant	-	NC_000002.12:g.199380434C>T	gnomAD
SATB2	Q9UPW6	p.Arg176Cys	rs1367792848	missense variant	-	NC_000002.12:g.199380435G>A	gnomAD
SATB2	Q9UPW6	p.Asn177Ser	rs773873672	missense variant	-	NC_000002.12:g.199380431T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala178Val	rs1370873507	missense variant	-	NC_000002.12:g.199380428G>A	TOPMed
SATB2	Q9UPW6	p.Leu182Pro	RCV000479790	missense variant	-	NC_000002.12:g.199380416A>G	ClinVar
SATB2	Q9UPW6	p.Leu182Pro	rs1064795817	missense variant	-	NC_000002.12:g.199380416A>G	-
SATB2	Q9UPW6	p.Glu185Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199380406C>A	NCI-TCGA
SATB2	Q9UPW6	p.Glu185Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199380406C>G	NCI-TCGA
SATB2	Q9UPW6	p.Asn187His	rs559652196	missense variant	-	NC_000002.12:g.199380402T>G	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Asn187Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199380400G>C	NCI-TCGA
SATB2	Q9UPW6	p.Gln188Lys	rs1391758713	missense variant	-	NC_000002.12:g.199380399G>T	gnomAD
SATB2	Q9UPW6	p.Gln188His	COSM6089566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199380397C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Thr190Ter	RCV000521695	frameshift	-	NC_000002.12:g.199380393dup	ClinVar
SATB2	Q9UPW6	p.Thr190Ser	rs1333077167	missense variant	-	NC_000002.12:g.199380393T>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu194Ter	COSM1014618	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199380381C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Glu194Lys	COSM1404367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199380381C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Cys195Tyr	COSM4090041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199380377C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Met201Ile	COSM1014617	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199368702C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Val206Ile	NCI-TCGA novel	insertion	-	NC_000002.12:g.199368687_199368688insATC	NCI-TCGA
SATB2	Q9UPW6	p.Tyr210Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.199368675A>T	NCI-TCGA
SATB2	Q9UPW6	p.Tyr210Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199368676T>C	NCI-TCGA
SATB2	Q9UPW6	p.Asn213Ser	rs1371535617	missense variant	-	NC_000002.12:g.199368667T>C	TOPMed
SATB2	Q9UPW6	p.Thr217Ile	rs777062011	missense variant	-	NC_000002.12:g.199368655G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln220Pro	COSM3576147	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199368646T>G	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Gln220His	COSM718603	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199368645C>G	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Trp225Ter	RCV000760865	nonsense	-	NC_000002.12:g.199368631C>T	ClinVar
SATB2	Q9UPW6	p.Lys227Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199368624T>G	NCI-TCGA
SATB2	Q9UPW6	p.Lys228Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199368621C>A	NCI-TCGA
SATB2	Q9UPW6	p.Lys230Gln	rs1194385939	missense variant	-	NC_000002.12:g.199368617T>G	gnomAD
SATB2	Q9UPW6	p.Ile232Thr	RCV000646090	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199368610A>G	ClinVar
SATB2	Q9UPW6	p.Ile232Thr	rs773467832	missense variant	-	NC_000002.12:g.199368610A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu235Gly	rs1446810891	missense variant	-	NC_000002.12:g.199349170T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu235LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199349171C>-	NCI-TCGA
SATB2	Q9UPW6	p.Arg236Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199349167C>T	NCI-TCGA
SATB2	Q9UPW6	p.Val237Met	rs1377492362	missense variant	-	NC_000002.12:g.199349165C>T	gnomAD
SATB2	Q9UPW6	p.Arg239Gln	rs889085038	missense variant	-	NC_000002.12:g.199349158C>T	TOPMed
SATB2	Q9UPW6	p.Arg239Ter	RCV000256175	nonsense	-	NC_000002.12:g.199349159G>A	ClinVar
SATB2	Q9UPW6	p.Arg239Ter	RCV000002627	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349159G>A	ClinVar
SATB2	Q9UPW6	p.Arg239Ter	rs137853127	stop gained	-	NC_000002.12:g.199349159G>A	-
SATB2	Q9UPW6	p.Glu240Gly	rs763748099	missense variant	-	NC_000002.12:g.199349155T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Asn241His	rs757833654	missense variant	-	NC_000002.12:g.199349153T>G	ExAC
SATB2	Q9UPW6	p.Leu242Val	NCI-TCGA novel	insertion	-	NC_000002.12:g.199349148_199349149insACC	NCI-TCGA
SATB2	Q9UPW6	p.Asp244Glu	rs766855879	missense variant	-	NC_000002.12:g.199349142G>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asp244Glu	rs766855879	missense variant	-	NC_000002.12:g.199349142G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asp244Glu	RCV000646085	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349142G>T	ClinVar
SATB2	Q9UPW6	p.Tyr245Asn	rs761063743	missense variant	-	NC_000002.12:g.199349141A>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Tyr245Ter	rs762870757	stop gained	-	NC_000002.12:g.199349139_199349140insC	ExAC
SATB2	Q9UPW6	p.Tyr245His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199349141A>G	NCI-TCGA
SATB2	Q9UPW6	p.Cys246Ser	rs372720155	missense variant	-	NC_000002.12:g.199349138A>T	ESP
SATB2	Q9UPW6	p.Cys246Ser	rs773808099	missense variant	-	NC_000002.12:g.199349137C>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val247Ile	rs767767817	missense variant	-	NC_000002.12:g.199349135C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Leu248Arg	rs200620268	missense variant	-	NC_000002.12:g.199349131A>C	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln250Ter	RCV000708552	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349126G>A	ClinVar
SATB2	Q9UPW6	p.Gln250His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199349124C>A	NCI-TCGA
SATB2	Q9UPW6	p.Arg251Cys	rs1239435557	missense variant	-	NC_000002.12:g.199349123G>A	gnomAD
SATB2	Q9UPW6	p.Arg251His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199349122C>T	NCI-TCGA
SATB2	Q9UPW6	p.Pro252Ala	rs769032202	missense variant	-	NC_000002.12:g.199349120G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met253Val	rs775411126	missense variant	-	NC_000002.12:g.199349117T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met253Ile	rs1318103404	missense variant	-	NC_000002.12:g.199349115C>T	gnomAD
SATB2	Q9UPW6	p.His254Arg	rs1027097947	missense variant	-	NC_000002.12:g.199349113T>C	TOPMed
SATB2	Q9UPW6	p.His254Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199349114G>A	NCI-TCGA
SATB2	Q9UPW6	p.Asn257Lys	rs1000649173	missense variant	-	NC_000002.12:g.199349103A>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Met258Val	rs200074373	missense variant	-	NC_000002.12:g.199349102T>C	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala262Thr	COSM1014614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349090C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ala262Val	COSM1404366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349089G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ser263Pro	rs12619995	missense variant	-	NC_000002.12:g.199349087A>G	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser263Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199349086G>T	NCI-TCGA
SATB2	Q9UPW6	p.Ser263LysLeuTrpThrLys	NCI-TCGA novel	insertion	-	NC_000002.12:g.199349084_199349085insCTTAGTCCACAACTT	NCI-TCGA
SATB2	Q9UPW6	p.Leu264Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199349083A>G	NCI-TCGA
SATB2	Q9UPW6	p.Lys266Arg	rs1364150345	missense variant	-	NC_000002.12:g.199349077T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Thr267Ala	rs1410113037	missense variant	-	NC_000002.12:g.199349075T>C	TOPMed
SATB2	Q9UPW6	p.Thr267Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199349074G>T	NCI-TCGA
SATB2	Q9UPW6	p.Glu269Lys	rs1399958038	missense variant	-	NC_000002.12:g.199349069C>T	TOPMed
SATB2	Q9UPW6	p.Gln270Ter	RCV000623347	frameshift	Inborn genetic diseases	NC_000002.12:g.199349066_199349067del	ClinVar
SATB2	Q9UPW6	p.Gln270His	COSM6089567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349064C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Pro272Leu	COSM1685903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349059G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Gln275His	rs995750176	missense variant	-	NC_000002.12:g.199349049T>G	gnomAD
SATB2	Q9UPW6	p.His278Gln	rs1403689000	missense variant	-	NC_000002.12:g.199349040G>C	gnomAD
SATB2	Q9UPW6	p.Ser279Cys	rs758064649	missense variant	-	NC_000002.12:g.199349039T>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser279Gly	rs758064649	missense variant	-	NC_000002.12:g.199349039T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro281Ser	rs752392251	missense variant	-	NC_000002.12:g.199349033G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro281Ala	rs752392251	missense variant	-	NC_000002.12:g.199349033G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg283Ter	rs797044874	stop gained	-	NC_000002.12:g.199349027G>A	-
SATB2	Q9UPW6	p.Arg283Ter	RCV000686152	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349027G>A	ClinVar
SATB2	Q9UPW6	p.Arg283Ter	RCV000254800	nonsense	-	NC_000002.12:g.199349027G>A	ClinVar
SATB2	Q9UPW6	p.Arg283Ter	RCV000190685	nonsense	Inborn genetic diseases	NC_000002.12:g.199349027G>A	ClinVar
SATB2	Q9UPW6	p.Arg283Gln	rs754582487	missense variant	-	NC_000002.12:g.199349026C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Gln285Ter	RCV000760767	nonsense	-	NC_000002.12:g.199349021G>A	ClinVar
SATB2	Q9UPW6	p.Val286Ala	rs1190937317	missense variant	-	NC_000002.12:g.199349017A>G	gnomAD
SATB2	Q9UPW6	p.Pro287Ser	rs768080548	missense variant	-	NC_000002.12:g.199349015G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala288Thr	RCV000646088	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349012C>T	ClinVar
SATB2	Q9UPW6	p.Ala288Thr	rs142825652	missense variant	-	NC_000002.12:g.199349012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala288Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199349012C>A	NCI-TCGA
SATB2	Q9UPW6	p.Gln290Ter	rs1057518496	stop gained	-	NC_000002.12:g.199349006G>A	-
SATB2	Q9UPW6	p.Gln290Ter	RCV000413829	nonsense	-	NC_000002.12:g.199349006G>A	ClinVar
SATB2	Q9UPW6	p.Gln290Leu	COSM6156078	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199349005T>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Gln290Ter	RCV000624904	nonsense	Inborn genetic diseases	NC_000002.12:g.199349006G>A	ClinVar
SATB2	Q9UPW6	p.Met293Val	rs763241238	missense variant	-	NC_000002.12:g.199348997T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met293Ile	rs79794576	missense variant	-	NC_000002.12:g.199348995C>T	1000Genomes,TOPMed
SATB2	Q9UPW6	p.Met293Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348996A>G	NCI-TCGA
SATB2	Q9UPW6	p.Ser294Asn	rs775852251	missense variant	-	NC_000002.12:g.199348993C>T	ExAC
SATB2	Q9UPW6	p.Leu297Phe	rs759677622	missense variant	-	NC_000002.12:g.199348985G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Leu297AsnAlaThr	NCI-TCGA novel	insertion	-	NC_000002.12:g.199348983_199348984insGTGGCATTC	NCI-TCGA
SATB2	Q9UPW6	p.Ser299Ter	RCV000520556	frameshift	-	NC_000002.12:g.199348981del	ClinVar
SATB2	Q9UPW6	p.Ser299Cys	COSM1306274	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348978G>C	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Leu302His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348969A>T	NCI-TCGA
SATB2	Q9UPW6	p.Ser303Asn	rs1215347266	missense variant	-	NC_000002.12:g.199348966C>T	TOPMed
SATB2	Q9UPW6	p.Ala312Val	rs746753960	missense variant	-	NC_000002.12:g.199348939G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala314Thr	COSM1014613	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348934C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Gln320His	rs1368984135	missense variant	-	NC_000002.12:g.199348914C>A	gnomAD
SATB2	Q9UPW6	p.Ala322Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348909G>A	NCI-TCGA
SATB2	Q9UPW6	p.Val323Ile	rs778684147	missense variant	-	NC_000002.12:g.199348907C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg325Gln	RCV000691713	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348900C>T	ClinVar
SATB2	Q9UPW6	p.Gln333Glu	rs1424984467	missense variant	-	NC_000002.12:g.199348877G>C	gnomAD
SATB2	Q9UPW6	p.Gln333Ter	rs1424984467	stop gained	-	NC_000002.12:g.199348877G>A	gnomAD
SATB2	Q9UPW6	p.Gln333Ter	RCV000599413	nonsense	-	NC_000002.12:g.199348877G>A	ClinVar
SATB2	Q9UPW6	p.Ala334Thr	RCV000646089	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348874C>T	ClinVar
SATB2	Q9UPW6	p.Ala334Thr	rs754385480	missense variant	-	NC_000002.12:g.199348874C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala334Asp	rs1481732485	missense variant	-	NC_000002.12:g.199348873G>T	gnomAD
SATB2	Q9UPW6	p.Gln338Glu	rs1222623089	missense variant	-	NC_000002.12:g.199348862G>C	gnomAD
SATB2	Q9UPW6	p.Pro344Ser	rs753421853	missense variant	-	NC_000002.12:g.199348844G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ile345Val	rs1180112158	missense variant	-	NC_000002.12:g.199348841T>C	gnomAD
SATB2	Q9UPW6	p.Arg347Lys	rs757817590	missense variant	-	NC_000002.12:g.199348834C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro351Leu	COSM3576143	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348822G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Glu352Asp	COSM1014612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348818C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Glu352ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199348820_199348821insT	NCI-TCGA
SATB2	Q9UPW6	p.Thr354Ala	rs764552856	missense variant	-	NC_000002.12:g.199348814T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Asn355Thr	rs1283962528	missense variant	-	NC_000002.12:g.199348810T>G	TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn355Ile	rs1283962528	missense variant	-	NC_000002.12:g.199348810T>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser356Tyr	COSM6089568	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348807G>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ser357Phe	rs1409295633	missense variant	-	NC_000002.12:g.199348804G>A	gnomAD
SATB2	Q9UPW6	p.Val358Met	rs765504446	missense variant	-	NC_000002.12:g.199348802C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Val358Leu	rs765504446	missense variant	-	NC_000002.12:g.199348802C>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val358Ala	COSM337097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199348801A>G	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Val358Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348802C>A	NCI-TCGA
SATB2	Q9UPW6	p.Pro362Ala	rs369487539	missense variant	-	NC_000002.12:g.199348790G>C	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro362Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348790G>A	NCI-TCGA
SATB2	Q9UPW6	p.Gln366Ter	COSM4844904	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199348778G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Asp370Glu	rs1183863165	missense variant	-	NC_000002.12:g.199348764A>T	gnomAD
SATB2	Q9UPW6	p.Arg374Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348753C>A	NCI-TCGA
SATB2	Q9UPW6	p.Ser376Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348747C>A	NCI-TCGA
SATB2	Q9UPW6	p.Ser378Ter	RCV000209866	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348742_199348743AC[2]	ClinVar
SATB2	Q9UPW6	p.Ser378Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348741G>A	NCI-TCGA
SATB2	Q9UPW6	p.Val381Gly	RCV000708553	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348732A>C	ClinVar
SATB2	Q9UPW6	p.Asn388Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348711T>C	NCI-TCGA
SATB2	Q9UPW6	p.Arg389His	rs1247886882	missense variant	-	NC_000002.12:g.199348708C>T	gnomAD
SATB2	Q9UPW6	p.Arg389Cys	RCV000623230	missense variant	Inborn genetic diseases	NC_000002.12:g.199348709G>A	ClinVar
SATB2	Q9UPW6	p.Thr390Ile	RCV000199456	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348705G>A	ClinVar
SATB2	Q9UPW6	p.Thr390Ile	rs863224917	missense variant	-	NC_000002.12:g.199348705G>A	-
SATB2	Q9UPW6	p.Thr390Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199348706T>C	NCI-TCGA
SATB2	Q9UPW6	p.Gln391Ter	RCV000708554	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348703G>A	ClinVar
SATB2	Q9UPW6	p.Gly392Glu	rs1085308028	missense variant	-	NC_000002.12:g.199328909C>T	-
SATB2	Q9UPW6	p.Gly392Glu	RCV000489186	missense variant	-	NC_000002.12:g.199328909C>T	ClinVar
SATB2	Q9UPW6	p.Glu396Gln	RCV000708555	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328898C>G	ClinVar
SATB2	Q9UPW6	p.Arg399His	rs1057518190	missense variant	-	NC_000002.12:g.199328888C>T	-
SATB2	Q9UPW6	p.Arg399Ter	RCV000624362	frameshift	Inborn genetic diseases	NC_000002.12:g.199328888del	ClinVar
SATB2	Q9UPW6	p.Arg399His	RCV000824998	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328888C>T	ClinVar
SATB2	Q9UPW6	p.Arg399His	RCV000413401	missense variant	-	NC_000002.12:g.199328888C>T	ClinVar
SATB2	Q9UPW6	p.Arg399Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199328888C>A	NCI-TCGA
SATB2	Q9UPW6	p.Lys400Glu	rs1057519013	missense variant	-	NC_000002.12:g.199328886T>C	-
SATB2	Q9UPW6	p.Lys400Glu	RCV000415356	missense variant	-	NC_000002.12:g.199328886T>C	ClinVar
SATB2	Q9UPW6	p.Pro404Ser	rs1193806941	missense variant	-	NC_000002.12:g.199328874G>A	gnomAD
SATB2	Q9UPW6	p.Pro404His	rs766601179	missense variant	-	NC_000002.12:g.199328873G>T	ExAC
SATB2	Q9UPW6	p.Pro404Thr	COSM718605	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328874G>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Arg405Trp	rs1432580321	missense variant	-	NC_000002.12:g.199328871G>A	gnomAD
SATB2	Q9UPW6	p.Arg405Gln	rs756117282	missense variant	-	NC_000002.12:g.199328870C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr406Ile	rs1187345550	missense variant	-	NC_000002.12:g.199328867G>A	TOPMed
SATB2	Q9UPW6	p.Ala407Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199328864G>A	NCI-TCGA
SATB2	Q9UPW6	p.Gln409Arg	COSM1404364	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328858T>C	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Val413Ile	rs1171330843	missense variant	-	NC_000002.12:g.199328847C>T	TOPMed
SATB2	Q9UPW6	p.Val413Leu	COSM3990966	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328847C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Arg416Lys	rs1341868380	missense variant	-	NC_000002.12:g.199328837C>T	gnomAD
SATB2	Q9UPW6	p.Met418Arg	RCV000623479	missense variant	Inborn genetic diseases	NC_000002.12:g.199328831A>C	ClinVar
SATB2	Q9UPW6	p.Met418Arg	rs1553547885	missense variant	-	NC_000002.12:g.199328831A>C	-
SATB2	Q9UPW6	p.Gln419His	COSM6156080	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328827C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Asn420Lys	COSM3576142	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328824A>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Phe421Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199328823A>T	NCI-TCGA
SATB2	Q9UPW6	p.Leu424Val	rs1375969185	missense variant	-	NC_000002.12:g.199328814G>C	TOPMed
SATB2	Q9UPW6	p.Pro425Ser	rs762673534	missense variant	-	NC_000002.12:g.199328811G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu426Asp	rs775219160	missense variant	-	NC_000002.12:g.199328806T>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val427Leu	rs1306994967	missense variant	-	NC_000002.12:g.199328805C>A	gnomAD
SATB2	Q9UPW6	p.Val427Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199328804A>T	NCI-TCGA
SATB2	Q9UPW6	p.Arg429Gln	rs886041516	missense variant	-	NC_000002.12:g.199328798C>T	-
SATB2	Q9UPW6	p.Arg429Ter	rs886041847	stop gained	-	NC_000002.12:g.199328799G>A	TOPMed
SATB2	Q9UPW6	p.Arg429Ter	RCV000307104	nonsense	-	NC_000002.12:g.199328799G>A	ClinVar
SATB2	Q9UPW6	p.Arg429Ter	RCV000763469	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328799G>A	ClinVar
SATB2	Q9UPW6	p.Arg429Gln	RCV000300452	missense variant	-	NC_000002.12:g.199328798C>T	ClinVar
SATB2	Q9UPW6	p.Arg429Gln	RCV000708556	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328798C>T	ClinVar
SATB2	Q9UPW6	p.Arg431Cys	rs769604856	missense variant	-	NC_000002.12:g.199328793G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg431Leu	rs745320639	missense variant	-	NC_000002.12:g.199328792C>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg431His	rs745320639	missense variant	-	NC_000002.12:g.199328792C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln434Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199328783T>A	NCI-TCGA
SATB2	Q9UPW6	p.Gln434Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199328783T>G	NCI-TCGA
SATB2	Q9UPW6	p.Asp435Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199328781C>T	NCI-TCGA
SATB2	Q9UPW6	p.Arg439Trp	rs1480791365	missense variant	-	NC_000002.12:g.199328769G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg439Ter	RCV000715123	frameshift	History of neurodevelopmental disorder	NC_000002.12:g.199328773_199328776dup	ClinVar
SATB2	Q9UPW6	p.Ser440Asn	rs1251222127	missense variant	-	NC_000002.12:g.199328765C>T	gnomAD
SATB2	Q9UPW6	p.Met441Val	rs926443498	missense variant	-	NC_000002.12:g.199328763T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Met441Thr	rs1294387707	missense variant	-	NC_000002.12:g.199328762A>G	TOPMed
SATB2	Q9UPW6	p.Pro443Thr	rs748680983	missense variant	-	NC_000002.12:g.199328757G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro443Ser	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199328757G>A	NCI-TCGA
SATB2	Q9UPW6	p.Asn444Ser	rs779346411	missense variant	-	NC_000002.12:g.199328753T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met447Thr	rs749656722	missense variant	-	NC_000002.12:g.199328744A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Met447Val	rs1265520683	missense variant	-	NC_000002.12:g.199328745T>C	gnomAD
SATB2	Q9UPW6	p.Ser449Cys	rs1323623166	missense variant	-	NC_000002.12:g.199328738G>C	gnomAD
SATB2	Q9UPW6	p.Ser450Leu	rs1278503270	missense variant	-	NC_000002.12:g.199328735G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala451Val	rs1210717946	missense variant	-	NC_000002.12:g.199328732G>A	TOPMed
SATB2	Q9UPW6	p.Ser452Phe	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199328729G>A	NCI-TCGA
SATB2	Q9UPW6	p.Ser453Asn	COSM1404363	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199328726C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Pro455Ser	rs1235823852	missense variant	-	NC_000002.12:g.199328721G>A	TOPMed
SATB2	Q9UPW6	p.Arg459Ter	RCV000625170	nonsense	Cleft palate, isolated (CPI)	NC_000002.12:g.199328709G>A	ClinVar
SATB2	Q9UPW6	p.Arg459Ter	RCV000680089	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328709G>A	ClinVar
SATB2	Q9UPW6	p.Arg459Ter	RCV000719613	nonsense	History of neurodevelopmental disorder	NC_000002.12:g.199328709G>A	ClinVar
SATB2	Q9UPW6	p.Arg459Ter	rs1553547838	stop gained	-	NC_000002.12:g.199328709G>A	-
SATB2	Q9UPW6	p.Thr460Asn	rs1329250891	missense variant	-	NC_000002.12:g.199328705G>T	gnomAD
SATB2	Q9UPW6	p.Thr460Ala	rs756308951	missense variant	-	NC_000002.12:g.199328706T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro461Ala	rs1451676503	missense variant	-	NC_000002.12:g.199328703G>C	gnomAD
SATB2	Q9UPW6	p.Gln462Ter	COSM3838243	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199328700G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ala463Val	rs1024314266	missense variant	-	NC_000002.12:g.199323957G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Thr465Ter	RCV000599501	frameshift	-	NC_000002.12:g.199323955dup	ClinVar
SATB2	Q9UPW6	p.Ser466Ala	rs1402503767	missense variant	-	NC_000002.12:g.199323949A>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser466Leu	rs780366664	missense variant	-	NC_000002.12:g.199323948G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser466Thr	rs1402503767	missense variant	-	NC_000002.12:g.199323949A>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro468Gln	rs746076990	missense variant	-	NC_000002.12:g.199323942G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro468Leu	rs746076990	missense variant	-	NC_000002.12:g.199323942G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro468Thr	rs770212471	missense variant	-	NC_000002.12:g.199323943G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Thr470Ile	rs777720531	missense variant	-	NC_000002.12:g.199323936G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asp471Tyr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199323934C>A	NCI-TCGA
SATB2	Q9UPW6	p.Leu472Phe	rs752719791	missense variant	-	NC_000002.12:g.199323931G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Leu472Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199323931G>T	NCI-TCGA
SATB2	Q9UPW6	p.Ile474Val	rs765116524	missense variant	-	NC_000002.12:g.199323925T>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile474Leu	rs765116524	missense variant	-	NC_000002.12:g.199323925T>G	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val476Met	rs759458466	missense variant	-	NC_000002.12:g.199323919C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Asp477Glu	rs765952558	missense variant	-	NC_000002.12:g.199323914G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala479Thr	rs772617927	missense variant	-	NC_000002.12:g.199323910C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala479Ser	COSM6089569	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199323910C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Asn480Ser	rs201864116	missense variant	-	NC_000002.12:g.199323906T>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile481Val	RCV000697845	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199323904T>C	ClinVar
SATB2	Q9UPW6	p.Asn482Ser	rs1302645769	missense variant	-	NC_000002.12:g.199323900T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn482Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199323900T>G	NCI-TCGA
SATB2	Q9UPW6	p.Ile483Val	rs1367720345	missense variant	-	NC_000002.12:g.199323898T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile487Val	rs763448261	missense variant	-	NC_000002.12:g.199323886T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu490Lys	rs746239023	missense variant	-	NC_000002.12:g.199323877C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu490Gly	rs781440499	missense variant	-	NC_000002.12:g.199323876T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Gln492Glu	COSM3576139	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199323871G>C	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Gln493Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199323867T>C	NCI-TCGA
SATB2	Q9UPW6	p.Gln493Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199323868G>T	NCI-TCGA
SATB2	Q9UPW6	p.Glu494Val	rs1057524205	missense variant	-	NC_000002.12:g.199323864T>A	-
SATB2	Q9UPW6	p.Glu494Val	RCV000422578	missense variant	-	NC_000002.12:g.199323864T>A	ClinVar
SATB2	Q9UPW6	p.Glu494Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199323864T>G	NCI-TCGA
SATB2	Q9UPW6	p.Lys499Glu	rs878853163	missense variant	-	NC_000002.12:g.199323850T>C	TOPMed
SATB2	Q9UPW6	p.Lys499Ter	rs878853163	stop gained	-	NC_000002.12:g.199323850T>A	TOPMed
SATB2	Q9UPW6	p.Lys499Ter	RCV000224980	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199323850T>A	ClinVar
SATB2	Q9UPW6	p.Gln502Glu	COSM3838242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199323841G>C	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Leu504Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199323835G>T	NCI-TCGA
SATB2	Q9UPW6	p.Phe505Ter	RCV000255520	frameshift	-	NC_000002.12:g.199323832del	ClinVar
SATB2	Q9UPW6	p.Ala506Ter	RCV000521883	frameshift	-	NC_000002.12:g.199323829_199323830insT	ClinVar
SATB2	Q9UPW6	p.Gln514Arg	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199323804T>C	NCI-TCGA
SATB2	Q9UPW6	p.Gly515Ser	rs1553544187	missense variant	-	NC_000002.12:g.199308957C>T	-
SATB2	Q9UPW6	p.Gly515Ser	RCV000656510	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308957C>T	ClinVar
SATB2	Q9UPW6	p.Glu519Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308944T>C	NCI-TCGA
SATB2	Q9UPW6	p.Arg522Ser	rs1223371144	missense variant	-	NC_000002.12:g.199308936G>T	gnomAD
SATB2	Q9UPW6	p.Lys524Met	rs1371458987	missense variant	-	NC_000002.12:g.199308929T>A	gnomAD
SATB2	Q9UPW6	p.Asn526Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308923T>A	NCI-TCGA
SATB2	Q9UPW6	p.Ser528Gly	rs1490098266	missense variant	-	NC_000002.12:g.199308918T>C	TOPMed
SATB2	Q9UPW6	p.Ser528Gly	RCV000717957	missense variant	History of neurodevelopmental disorder	NC_000002.12:g.199308918T>C	ClinVar
SATB2	Q9UPW6	p.Asn531Ter	RCV000533352	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308911dup	ClinVar
SATB2	Q9UPW6	p.Asn531Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308908T>G	NCI-TCGA
SATB2	Q9UPW6	p.Arg532Cys	COSM1014608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308906G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Leu534Ile	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308900G>T	NCI-TCGA
SATB2	Q9UPW6	p.Leu538Pro	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308887A>G	NCI-TCGA
SATB2	Q9UPW6	p.Leu538SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199308888G>-	NCI-TCGA
SATB2	Q9UPW6	p.Cys539Tyr	rs755996970	missense variant	-	NC_000002.12:g.199308884C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr540Ile	rs749986143	missense variant	-	NC_000002.12:g.199308881G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg542Cys	rs767163210	missense variant	-	NC_000002.12:g.199308876G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg543His	rs1178625025	missense variant	-	NC_000002.12:g.199308872C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg543Cys	rs756719862	missense variant	-	NC_000002.12:g.199308873G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg543Ter	RCV000496200	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308873del	ClinVar
SATB2	Q9UPW6	p.Pro548Ser	rs1411889903	missense variant	-	NC_000002.12:g.199308858G>A	gnomAD
SATB2	Q9UPW6	p.Pro548Leu	COSM357873	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308857G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Arg552Ter	RCV000626779	frameshift	Global developmental delay (DD)	NC_000002.12:g.199308846_199308847TC[1]	ClinVar
SATB2	Q9UPW6	p.Arg552Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308846T>C	NCI-TCGA
SATB2	Q9UPW6	p.Asp553Gly	rs1407936376	missense variant	-	NC_000002.12:g.199308842T>C	TOPMed
SATB2	Q9UPW6	p.Asp553Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308843C>T	NCI-TCGA
SATB2	Q9UPW6	p.Val554Ile	rs1201673032	missense variant	-	NC_000002.12:g.199308840C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Val554Ile	RCV000704967	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308840C>T	ClinVar
SATB2	Q9UPW6	p.Val554Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308839A>G	NCI-TCGA
SATB2	Q9UPW6	p.Ile555Val	rs1462605845	missense variant	-	NC_000002.12:g.199308837T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile555Met	COSM3838241	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308835G>C	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Glu557Asp	rs377609161	missense variant	-	NC_000002.12:g.199308829C>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu557Asp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308829C>A	NCI-TCGA
SATB2	Q9UPW6	p.Glu566Lys	RCV000656509	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308804C>T	ClinVar
SATB2	Q9UPW6	p.Arg567Cys	rs777257792	missense variant	-	NC_000002.12:g.199308801G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg567His	COSM4090039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308800C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Met568Leu	rs761112090	missense variant	-	NC_000002.12:g.199308798T>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Met568Leu	rs761112090	missense variant	-	NC_000002.12:g.199308798T>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Met568Ile	rs1042085577	missense variant	-	NC_000002.12:g.199308796C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.His570Leu	rs773498253	missense variant	-	NC_000002.12:g.199308791T>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Val571Met	rs188013011	missense variant	-	NC_000002.12:g.199308789C>T	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Val571Leu	rs188013011	missense variant	-	NC_000002.12:g.199308789C>A	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Gln573His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199308781C>A	NCI-TCGA
SATB2	Q9UPW6	p.Leu574His	rs774550702	missense variant	-	NC_000002.12:g.199308779A>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro575Ser	rs1010344792	missense variant	-	NC_000002.12:g.199308777G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro576Thr	rs749170294	missense variant	-	NC_000002.12:g.199308774G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro576Leu	rs532416594	missense variant	-	NC_000002.12:g.199308773G>A	1000Genomes,TOPMed
SATB2	Q9UPW6	p.Pro576His	rs532416594	missense variant	-	NC_000002.12:g.199308773G>T	1000Genomes,TOPMed
SATB2	Q9UPW6	p.Pro576Ser	rs749170294	missense variant	-	NC_000002.12:g.199308774G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu577Ter	RCV000623085	frameshift	Inborn genetic diseases	NC_000002.12:g.199308770_199308771del	ClinVar
SATB2	Q9UPW6	p.Pro578Leu	rs1160832366	missense variant	-	NC_000002.12:g.199308767G>A	gnomAD
SATB2	Q9UPW6	p.Pro578Thr	rs780054309	missense variant	-	NC_000002.12:g.199308768G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val579Leu	COSM6089570	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199308765C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.His583Arg	rs924452849	missense variant	-	NC_000002.12:g.199272665T>C	TOPMed
SATB2	Q9UPW6	p.His583Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272666G>T	NCI-TCGA
SATB2	Q9UPW6	p.Gln586Ter	RCV000760677	nonsense	-	NC_000002.12:g.199272657G>A	ClinVar
SATB2	Q9UPW6	p.Gln586Leu	COSM718610	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272656T>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ala590Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272645C>T	NCI-TCGA
SATB2	Q9UPW6	p.Ser593Asn	rs751007411	missense variant	-	NC_000002.12:g.199272635C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser593Gly	rs1168221672	missense variant	-	NC_000002.12:g.199272636T>C	TOPMed
SATB2	Q9UPW6	p.Ser594Phe	COSM2906135	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272632G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ala600Val	rs751765693	missense variant	-	NC_000002.12:g.199272614G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro602Thr	rs1401231161	missense variant	-	NC_000002.12:g.199272609G>T	TOPMed
SATB2	Q9UPW6	p.Pro602Leu	rs533594267	missense variant	-	NC_000002.12:g.199272608G>A	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro602His	rs533594267	missense variant	-	NC_000002.12:g.199272608G>T	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro602Ser	COSM3576137	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272609G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Pro603Ser	rs1266946747	missense variant	-	NC_000002.12:g.199272606G>A	gnomAD
SATB2	Q9UPW6	p.Pro603Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272605G>A	NCI-TCGA
SATB2	Q9UPW6	p.Pro606Ala	rs1452420369	missense variant	-	NC_000002.12:g.199272597G>C	gnomAD
SATB2	Q9UPW6	p.Pro606Leu	COSM1326544	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272596G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Glu608Lys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272591C>T	NCI-TCGA
SATB2	Q9UPW6	p.Asp609Gly	COSM718611	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272587T>C	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ser610Gly	rs1048433974	missense variant	-	NC_000002.12:g.199272585T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro615Ser	rs1394335364	missense variant	-	NC_000002.12:g.199272570G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser617Phe	rs776611711	missense variant	-	NC_000002.12:g.199272563G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser617Phe	rs776611711	missense variant	-	NC_000002.12:g.199272563G>A	NCI-TCGA,NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Arg618His	rs1223479618	missense variant	-	NC_000002.12:g.199272560C>T	gnomAD
SATB2	Q9UPW6	p.Arg618His	rs1223479618	missense variant	-	NC_000002.12:g.199272560C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Arg618Leu	COSM6156081	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272560C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Thr619Ala	rs746809112	missense variant	-	NC_000002.12:g.199272558T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Gly627Ala	COSM718612	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272533C>G	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Gly627Trp	COSM4090038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272534C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ile628Phe	COSM442082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272531T>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ser631Cys	COSM1404361	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272522T>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ile633Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272514A>C	NCI-TCGA
SATB2	Q9UPW6	p.Ile633Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272515A>G	NCI-TCGA
SATB2	Q9UPW6	p.Val636Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272507C>A	NCI-TCGA
SATB2	Q9UPW6	p.Gly637Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272503C>A	NCI-TCGA
SATB2	Q9UPW6	p.Leu638LeuTyrLeu	NCI-TCGA novel	insertion	-	NC_000002.12:g.199272502_199272503insTATAGAAGA	NCI-TCGA
SATB2	Q9UPW6	p.Leu638HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199272502_199272503insTATAGAAGACTCTGAAGCCAGGTTGCCTAAAGTGAGATGA	NCI-TCGA
SATB2	Q9UPW6	p.Pro640Ser	COSM3576136	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272495G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Pro640Leu	COSM6156082	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272494G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Gln642His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272487C>A	NCI-TCGA
SATB2	Q9UPW6	p.Glu643Lys	rs1553538927	missense variant	-	NC_000002.12:g.199272486C>T	-
SATB2	Q9UPW6	p.Glu643Lys	RCV000520970	missense variant	-	NC_000002.12:g.199272486C>T	ClinVar
SATB2	Q9UPW6	p.Glu643Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.199272486C>A	NCI-TCGA
SATB2	Q9UPW6	p.His646Asp	rs1331951748	missense variant	-	NC_000002.12:g.199272477G>C	gnomAD
SATB2	Q9UPW6	p.Leu648Ter	RCV000413155	frameshift	-	NC_000002.12:g.199272470_199272471AG[1]	ClinVar
SATB2	Q9UPW6	p.Ser649Ter	RCV000708557	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272470dup	ClinVar
SATB2	Q9UPW6	p.Ser649Leu	rs746319722	missense variant	-	NC_000002.12:g.199272467G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser649Leu	RCV000658445	missense variant	-	NC_000002.12:g.199272467G>A	ClinVar
SATB2	Q9UPW6	p.Ser649Leu	rs746319722	missense variant	-	NC_000002.12:g.199272467G>A	NCI-TCGA,NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ala650Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272464G>A	NCI-TCGA
SATB2	Q9UPW6	p.Gln651Ter	COSM418924	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.199272462G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Pro655Leu	RCV000502290	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272449G>A	ClinVar
SATB2	Q9UPW6	p.Pro655Leu	rs1553538919	missense variant	-	NC_000002.12:g.199272449G>A	-
SATB2	Q9UPW6	p.Ile659Val	rs1478232447	missense variant	-	NC_000002.12:g.199272438T>C	TOPMed
SATB2	Q9UPW6	p.Ile660Met	COSM6089572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272433G>C	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Gln664Ter	rs1553538917	stop gained	-	NC_000002.12:g.199272423G>A	-
SATB2	Q9UPW6	p.Gln664His	rs144750620	missense variant	-	NC_000002.12:g.199272421C>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln664Ter	RCV000626778	nonsense	Global developmental delay (DD)	NC_000002.12:g.199272423G>A	ClinVar
SATB2	Q9UPW6	p.Gln666Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.199272417G>A	NCI-TCGA
SATB2	Q9UPW6	p.Arg667Trp	rs751977362	missense variant	-	NC_000002.12:g.199272414G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg667Leu	RCV000704733	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272413C>A	ClinVar
SATB2	Q9UPW6	p.Arg667Leu	rs1559136030	missense variant	-	NC_000002.12:g.199272413C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Arg667Gln	COSM6038379	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272413C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.His669Tyr	COSM718614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272408G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Val670Met	rs758618655	missense variant	-	NC_000002.12:g.199272405C>T	ExAC
SATB2	Q9UPW6	p.His673Ter	RCV000708558	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272395dup	ClinVar
SATB2	Q9UPW6	p.Gly674Arg	rs765349371	missense variant	-	NC_000002.12:g.199272393C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Gly674Val	COSM1404360	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272392C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Lys675Thr	rs1397644010	missense variant	-	NC_000002.12:g.199272389T>G	TOPMed
SATB2	Q9UPW6	p.Leu676Met	rs138968934	missense variant	-	NC_000002.12:g.199272387G>T	ESP,TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys677Asn	rs1260665634	missense variant	-	NC_000002.12:g.199272382T>G	gnomAD
SATB2	Q9UPW6	p.Glu678Asp	rs147191297	missense variant	-	NC_000002.12:g.199272379C>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu678Asp	rs147191297	missense variant	-	NC_000002.12:g.199272379C>A	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.His679Arg	rs1345171175	missense variant	-	NC_000002.12:g.199272377T>C	gnomAD
SATB2	Q9UPW6	p.Leu680Val	rs766332901	missense variant	-	NC_000002.12:g.199272375G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Leu680Pro	rs1437550190	missense variant	-	NC_000002.12:g.199272374A>G	TOPMed
SATB2	Q9UPW6	p.Ala683Val	rs1451743452	missense variant	-	NC_000002.12:g.199272365G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala683Thr	rs372032415	missense variant	-	NC_000002.12:g.199272366C>T	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala683Thr	RCV000646087	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272366C>T	ClinVar
SATB2	Q9UPW6	p.Ala683Val	rs1451743452	missense variant	-	NC_000002.12:g.199272365G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ala683Thr	rs372032415	missense variant	-	NC_000002.12:g.199272366C>T	NCI-TCGA
SATB2	Q9UPW6	p.Val684Ter	RCV000599133	frameshift	-	NC_000002.12:g.199272364dup	ClinVar
SATB2	Q9UPW6	p.Val686Met	rs773932097	missense variant	-	NC_000002.12:g.199272357C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Val686Leu	COSM6156084	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272357C>G	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Lys690Met	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272344T>A	NCI-TCGA
SATB2	Q9UPW6	p.Asp691Val	COSM3838240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272341T>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Asp691Glu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272340G>T	NCI-TCGA
SATB2	Q9UPW6	p.Glu692Ter	RCV000708559	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272339C>A	ClinVar
SATB2	Q9UPW6	p.Glu692Asp	COSM4090036	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272337C>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ser698Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272320G>A	NCI-TCGA
SATB2	Q9UPW6	p.Glu699Gly	rs1197844648	missense variant	-	NC_000002.12:g.199272317T>C	TOPMed
SATB2	Q9UPW6	p.Glu700Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.199272315C>A	NCI-TCGA
SATB2	Q9UPW6	p.Asp702Asn	rs1443276216	missense variant	-	NC_000002.12:g.199272309C>T	gnomAD
SATB2	Q9UPW6	p.Ser703Arg	rs148851926	missense variant	-	NC_000002.12:g.199272304G>T	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu704Lys	rs747513035	missense variant	-	NC_000002.12:g.199272303C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu704Lys	rs747513035	missense variant	-	NC_000002.12:g.199272303C>T	NCI-TCGA
SATB2	Q9UPW6	p.Glu705Gln	rs200723657	missense variant	-	NC_000002.12:g.199272300C>G	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Gly706Ser	rs1553538875	missense variant	-	NC_000002.12:g.199272297C>T	-
SATB2	Q9UPW6	p.Gly706Ser	RCV000646086	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272297C>T	ClinVar
SATB2	Q9UPW6	p.Ser707Tyr	rs752910885	missense variant	-	NC_000002.12:g.199272293G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser707Cys	rs752910885	missense variant	-	NC_000002.12:g.199272293G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser707Phe	COSM1685902	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272293G>A	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ser707ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199272294_199272295insCTGAAGACAGTTGT	NCI-TCGA
SATB2	Q9UPW6	p.Glu708Lys	COSM3576133	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272291C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Met710Ile	rs1286415699	missense variant	-	NC_000002.12:g.199272283C>T	gnomAD
SATB2	Q9UPW6	p.Tyr711Cys	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272281T>C	NCI-TCGA
SATB2	Q9UPW6	p.Lys712Gln	rs146644021	missense variant	-	NC_000002.12:g.199272279T>G	ESP,gnomAD
SATB2	Q9UPW6	p.Lys712Arg	rs999561200	missense variant	-	NC_000002.12:g.199272278T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys712Glu	rs146644021	missense variant	-	NC_000002.12:g.199272279T>C	ESP,gnomAD
SATB2	Q9UPW6	p.Asn719MetPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000002.12:g.199272257T>-	NCI-TCGA
SATB2	Q9UPW6	p.Ala720Ser	rs531933724	missense variant	-	NC_000002.12:g.199272255C>A	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Ala720Thr	COSM375235	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.199272255C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Asp721His	NCI-TCGA novel	missense variant	-	NC_000002.12:g.199272252C>G	NCI-TCGA
SATB2	Q9UPW6	p.Ser723Asn	rs750394257	missense variant	-	NC_000002.12:g.199272245C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Lys724Asn	rs915648697	missense variant	-	NC_000002.12:g.199272241C>G	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys724Glu	rs1421713467	missense variant	-	NC_000002.12:g.199272243T>C	gnomAD
SATB2	Q9UPW6	p.Lys724Thr	rs1361438994	missense variant	-	NC_000002.12:g.199272242T>G	gnomAD
SATB2	Q9UPW6	p.Ala725Val	rs767329844	missense variant	-	NC_000002.12:g.199272239G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala725Thr	rs1423097949	missense variant	-	NC_000002.12:g.199272240C>T	gnomAD
SATB2	Q9UPW6	p.Ala726Thr	rs551624897	missense variant	-	NC_000002.12:g.199272237C>T	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala726Thr	RCV000540212	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272237C>T	ClinVar
SATB2	Q9UPW6	p.Pro727Ser	rs1392711751	missense variant	-	NC_000002.12:g.199272234G>A	TOPMed
SATB2	Q9UPW6	p.Pro727Arg	rs1240942211	missense variant	-	NC_000002.12:g.199272233G>C	gnomAD
SATB2	Q9UPW6	p.Ala728Pro	rs377368865	missense variant	-	NC_000002.12:g.199272231C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala728Gly	rs140532313	missense variant	-	NC_000002.12:g.199272230G>C	ESP,ExAC,TOPMed
SATB2	Q9UPW6	p.Glu729Lys	rs1489038642	missense variant	-	NC_000002.12:g.199272228C>T	gnomAD
SATB2	Q9UPW6	p.Glu729Lys	rs1489038642	missense variant	-	NC_000002.12:g.199272228C>T	NCI-TCGA Cosmic
SATB2	Q9UPW6	p.Ile730Thr	rs373319001	missense variant	-	NC_000002.12:g.199272224A>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile730Asn	rs373319001	missense variant	-	NC_000002.12:g.199272224A>T	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln732His	rs778160560	missense variant	-	NC_000002.12:g.199272217C>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Met1Val	RCV000578907	missense variant	-	NC_000002.12:g.199456037T>C	ClinVar
SATB2	Q9UPW6	p.Arg4Gln	rs1463296675	missense variant	-	NC_000002.12:g.199456027C>T	gnomAD
SATB2	Q9UPW6	p.Glu6Lys	rs1434320727	missense variant	-	NC_000002.12:g.199456022C>T	gnomAD
SATB2	Q9UPW6	p.Ser7Ter	RCV000519084	frameshift	-	NC_000002.12:g.199456019dup	ClinVar
SATB2	Q9UPW6	p.Ser7Ter	RCV000709933	frameshift	SATB2-Related Disorder	NC_000002.12:g.199456019dup	ClinVar
SATB2	Q9UPW6	p.Cys9Arg	rs1361158169	missense variant	-	NC_000002.12:g.199456013A>G	TOPMed
SATB2	Q9UPW6	p.Cys9Ser	rs1209144312	missense variant	-	NC_000002.12:g.199456012C>G	gnomAD
SATB2	Q9UPW6	p.Asp12Asn	rs1282358129	missense variant	-	NC_000002.12:g.199456004C>T	gnomAD
SATB2	Q9UPW6	p.Arg16Gln	rs1295030903	missense variant	-	NC_000002.12:g.199455991C>T	gnomAD
SATB2	Q9UPW6	p.Ser18Arg	rs747894251	missense variant	-	NC_000002.12:g.199455984G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Asp22Glu	rs1405630119	missense variant	-	NC_000002.12:g.199455972G>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys24Arg	rs1176416627	missense variant	-	NC_000002.12:g.199455967T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro26Ala	rs1473042227	missense variant	-	NC_000002.12:g.199455962G>C	gnomAD
SATB2	Q9UPW6	p.Pro27Ser	rs989025045	missense variant	-	NC_000002.12:g.199455959G>A	TOPMed
SATB2	Q9UPW6	p.Pro28Ter	RCV000394237	frameshift	-	NC_000002.12:g.199455959del	ClinVar
SATB2	Q9UPW6	p.Pro28Leu	rs1367686940	missense variant	-	NC_000002.12:g.199455955G>A	gnomAD
SATB2	Q9UPW6	p.Lys30Asn	rs1176548430	missense variant	-	NC_000002.12:g.199455948C>A	TOPMed
SATB2	Q9UPW6	p.Ala32Thr	rs1461281024	missense variant	-	NC_000002.12:g.199455944C>T	gnomAD
SATB2	Q9UPW6	p.Arg33Trp	rs1392839872	missense variant	-	NC_000002.12:g.199455941G>A	gnomAD
SATB2	Q9UPW6	p.Gln36His	rs1165492597	missense variant	-	NC_000002.12:g.199455930C>G	gnomAD
SATB2	Q9UPW6	p.Gly38Ser	rs1458922428	missense variant	-	NC_000002.12:g.199455926C>T	gnomAD
SATB2	Q9UPW6	p.Ser39Asn	rs1208341343	missense variant	-	NC_000002.12:g.199455922C>T	gnomAD
SATB2	Q9UPW6	p.Pro40Ser	rs1191904885	missense variant	-	NC_000002.12:g.199455920G>A	gnomAD
SATB2	Q9UPW6	p.Met41Val	rs919635073	missense variant	-	NC_000002.12:g.199455917T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Gly42Ter	rs1064793947	stop gained	-	NC_000002.12:g.199455914C>A	-
SATB2	Q9UPW6	p.Gly42Ter	RCV000486598	nonsense	-	NC_000002.12:g.199455914C>A	ClinVar
SATB2	Q9UPW6	p.Ala43Thr	rs1249539770	missense variant	-	NC_000002.12:g.199455911C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn48Ser	rs1467878282	missense variant	-	NC_000002.12:g.199455895T>C	gnomAD
SATB2	Q9UPW6	p.Asn48Asp	rs1188890432	missense variant	-	NC_000002.12:g.199455896T>C	gnomAD
SATB2	Q9UPW6	p.Val51Met	rs540871216	missense variant	-	NC_000002.12:g.199455887C>T	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala52Val	RCV000762309	missense variant	-	NC_000002.12:g.199455883G>A	ClinVar
SATB2	Q9UPW6	p.Ala52Val	rs1357016064	missense variant	-	NC_000002.12:g.199455883G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala54Ser	rs1446614613	missense variant	-	NC_000002.12:g.199455878C>A	TOPMed
SATB2	Q9UPW6	p.Val55Ala	rs1226310700	missense variant	-	NC_000002.12:g.199455874A>G	gnomAD
SATB2	Q9UPW6	p.Val55Met	rs748892556	missense variant	-	NC_000002.12:g.199455875C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val55Leu	rs748892556	missense variant	-	NC_000002.12:g.199455875C>G	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Met59Val	rs1478238325	missense variant	-	NC_000002.12:g.199433509T>C	gnomAD
SATB2	Q9UPW6	p.Val62Asp	rs1064796649	missense variant	-	NC_000002.12:g.199433499A>T	-
SATB2	Q9UPW6	p.Val62Asp	RCV000479021	missense variant	-	NC_000002.12:g.199433499A>T	ClinVar
SATB2	Q9UPW6	p.Val65Ile	rs749125541	missense variant	-	NC_000002.12:g.199433491C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Val66Met	rs1252596825	missense variant	-	NC_000002.12:g.199433488C>T	gnomAD
SATB2	Q9UPW6	p.Leu69Met	rs745323861	missense variant	-	NC_000002.12:g.199433479A>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gly71Cys	rs756865617	missense variant	-	NC_000002.12:g.199433473C>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Gly71Ser	rs756865617	missense variant	-	NC_000002.12:g.199433473C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser72Cys	rs755238845	missense variant	-	NC_000002.12:g.199433469G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser72Pro	rs753249521	missense variant	-	NC_000002.12:g.199433470A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser72Tyr	rs755238845	missense variant	-	NC_000002.12:g.199433469G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Tyr75Cys	rs750686286	missense variant	-	NC_000002.12:g.199433460T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Tyr75His	rs760905348	missense variant	-	NC_000002.12:g.199433461A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg78Lys	rs767582582	missense variant	-	NC_000002.12:g.199433451C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Phe84Val	rs548822205	missense variant	-	NC_000002.12:g.199433434A>C	1000Genomes
SATB2	Q9UPW6	p.Arg88Gln	rs530118484	missense variant	-	NC_000002.12:g.199433421C>T	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Lys89Arg	rs769528257	missense variant	-	NC_000002.12:g.199433418T>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Leu92Pro	rs746334982	missense variant	-	NC_000002.12:g.199433409A>G	gnomAD
SATB2	Q9UPW6	p.Leu96Arg	rs1064795247	missense variant	-	NC_000002.12:g.199433397A>C	-
SATB2	Q9UPW6	p.Leu96Arg	RCV000485845	missense variant	-	NC_000002.12:g.199433397A>C	ClinVar
SATB2	Q9UPW6	p.Leu102Ter	RCV000585548	frameshift	-	NC_000002.12:g.199433379del	ClinVar
SATB2	Q9UPW6	p.Ala111Val	rs1376331026	missense variant	-	NC_000002.12:g.199433352G>A	gnomAD
SATB2	Q9UPW6	p.Gln113Ter	RCV000760901	nonsense	-	NC_000002.12:g.199433347G>A	ClinVar
SATB2	Q9UPW6	p.Gln115Ter	RCV000695069	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199433341G>A	ClinVar
SATB2	Q9UPW6	p.Gly116Arg	rs1131691672	missense variant	-	NC_000002.12:g.199433338C>G	-
SATB2	Q9UPW6	p.Gly116Arg	RCV000494383	missense variant	-	NC_000002.12:g.199433338C>G	ClinVar
SATB2	Q9UPW6	p.Lys119Asn	rs1185687010	missense variant	-	NC_000002.12:g.199381810C>A	TOPMed
SATB2	Q9UPW6	p.Arg122Thr	rs1182083147	missense variant	-	NC_000002.12:g.199381802C>G	gnomAD
SATB2	Q9UPW6	p.Arg122Ter	RCV000598591	nonsense	-	NC_000002.12:g.199381799del	ClinVar
SATB2	Q9UPW6	p.Tyr130Cys	rs372822699	missense variant	-	NC_000002.12:g.199381778T>C	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val131Glu	rs1064794638	missense variant	-	NC_000002.12:g.199381775A>T	-
SATB2	Q9UPW6	p.Val131Glu	RCV000485195	missense variant	-	NC_000002.12:g.199381775A>T	ClinVar
SATB2	Q9UPW6	p.Ala137Val	rs746240750	missense variant	-	NC_000002.12:g.199381757G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala137Thr	rs1454219036	missense variant	-	NC_000002.12:g.199381758C>T	TOPMed
SATB2	Q9UPW6	p.Asp141Glu	rs1401692784	missense variant	-	NC_000002.12:g.199381744G>T	gnomAD
SATB2	Q9UPW6	p.Met142Ile	rs764205432	missense variant	-	NC_000002.12:g.199381741C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Met142Val	rs751779659	missense variant	-	NC_000002.12:g.199381743T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Val149Ala	rs765278258	missense variant	-	NC_000002.12:g.199381721A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr151Met	rs1414878673	missense variant	-	NC_000002.12:g.199381715G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys161Arg	rs1360355424	missense variant	-	NC_000002.12:g.199380479T>C	gnomAD
SATB2	Q9UPW6	p.Lys161Ter	RCV000479959	frameshift	-	NC_000002.12:g.199380481del	ClinVar
SATB2	Q9UPW6	p.Ala167Val	rs767084945	missense variant	-	NC_000002.12:g.199380461G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg176His	rs1321695489	missense variant	-	NC_000002.12:g.199380434C>T	gnomAD
SATB2	Q9UPW6	p.Arg176Cys	rs1367792848	missense variant	-	NC_000002.12:g.199380435G>A	gnomAD
SATB2	Q9UPW6	p.Asn177Ser	rs773873672	missense variant	-	NC_000002.12:g.199380431T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala178Val	rs1370873507	missense variant	-	NC_000002.12:g.199380428G>A	TOPMed
SATB2	Q9UPW6	p.Leu182Pro	RCV000479790	missense variant	-	NC_000002.12:g.199380416A>G	ClinVar
SATB2	Q9UPW6	p.Leu182Pro	rs1064795817	missense variant	-	NC_000002.12:g.199380416A>G	-
SATB2	Q9UPW6	p.Asn187His	rs559652196	missense variant	-	NC_000002.12:g.199380402T>G	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Gln188Lys	rs1391758713	missense variant	-	NC_000002.12:g.199380399G>T	gnomAD
SATB2	Q9UPW6	p.Thr190Ter	RCV000521695	frameshift	-	NC_000002.12:g.199380393dup	ClinVar
SATB2	Q9UPW6	p.Thr190Ser	rs1333077167	missense variant	-	NC_000002.12:g.199380393T>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn213Ser	rs1371535617	missense variant	-	NC_000002.12:g.199368667T>C	TOPMed
SATB2	Q9UPW6	p.Thr217Ile	rs777062011	missense variant	-	NC_000002.12:g.199368655G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Trp225Ter	RCV000760865	nonsense	-	NC_000002.12:g.199368631C>T	ClinVar
SATB2	Q9UPW6	p.Trp225Ter	rs1553493553	stop gained	-	NC_000002.12:g.199368631C>T	-
SATB2	Q9UPW6	p.Lys230Gln	rs1194385939	missense variant	-	NC_000002.12:g.199368617T>G	gnomAD
SATB2	Q9UPW6	p.Ile232Thr	RCV000646090	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199368610A>G	ClinVar
SATB2	Q9UPW6	p.Ile232Thr	rs773467832	missense variant	-	NC_000002.12:g.199368610A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu235Gly	rs1446810891	missense variant	-	NC_000002.12:g.199349170T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Val237Met	rs1377492362	missense variant	-	NC_000002.12:g.199349165C>T	gnomAD
SATB2	Q9UPW6	p.Arg239Gln	rs889085038	missense variant	-	NC_000002.12:g.199349158C>T	TOPMed
SATB2	Q9UPW6	p.Arg239Ter	RCV000256175	nonsense	-	NC_000002.12:g.199349159G>A	ClinVar
SATB2	Q9UPW6	p.Arg239Ter	RCV000002627	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349159G>A	ClinVar
SATB2	Q9UPW6	p.Arg239Ter	rs137853127	stop gained	-	NC_000002.12:g.199349159G>A	-
SATB2	Q9UPW6	p.Glu240Gly	rs763748099	missense variant	-	NC_000002.12:g.199349155T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Asn241His	rs757833654	missense variant	-	NC_000002.12:g.199349153T>G	ExAC
SATB2	Q9UPW6	p.Asp244Glu	rs766855879	missense variant	-	NC_000002.12:g.199349142G>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asp244Glu	rs766855879	missense variant	-	NC_000002.12:g.199349142G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asp244Glu	RCV000646085	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349142G>T	ClinVar
SATB2	Q9UPW6	p.Tyr245Asn	rs761063743	missense variant	-	NC_000002.12:g.199349141A>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Tyr245Ter	rs762870757	stop gained	-	NC_000002.12:g.199349139_199349140insC	ExAC
SATB2	Q9UPW6	p.Cys246Ser	rs372720155	missense variant	-	NC_000002.12:g.199349138A>T	ESP
SATB2	Q9UPW6	p.Cys246Ser	rs773808099	missense variant	-	NC_000002.12:g.199349137C>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val247Ile	rs767767817	missense variant	-	NC_000002.12:g.199349135C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Leu248Arg	rs200620268	missense variant	-	NC_000002.12:g.199349131A>C	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln250Ter	RCV000708552	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349126G>A	ClinVar
SATB2	Q9UPW6	p.Arg251Cys	rs1239435557	missense variant	-	NC_000002.12:g.199349123G>A	gnomAD
SATB2	Q9UPW6	p.Pro252Ala	rs769032202	missense variant	-	NC_000002.12:g.199349120G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met253Val	rs775411126	missense variant	-	NC_000002.12:g.199349117T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met253Ile	rs1318103404	missense variant	-	NC_000002.12:g.199349115C>T	gnomAD
SATB2	Q9UPW6	p.His254Arg	rs1027097947	missense variant	-	NC_000002.12:g.199349113T>C	TOPMed
SATB2	Q9UPW6	p.Asn257Lys	rs1000649173	missense variant	-	NC_000002.12:g.199349103A>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Met258Val	rs200074373	missense variant	-	NC_000002.12:g.199349102T>C	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser263Pro	rs12619995	missense variant	-	NC_000002.12:g.199349087A>G	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys266Arg	rs1364150345	missense variant	-	NC_000002.12:g.199349077T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Thr267Ala	rs1410113037	missense variant	-	NC_000002.12:g.199349075T>C	TOPMed
SATB2	Q9UPW6	p.Glu269Lys	rs1399958038	missense variant	-	NC_000002.12:g.199349069C>T	TOPMed
SATB2	Q9UPW6	p.Gln270Ter	RCV000623347	frameshift	Inborn genetic diseases	NC_000002.12:g.199349066_199349067del	ClinVar
SATB2	Q9UPW6	p.Gln275His	rs995750176	missense variant	-	NC_000002.12:g.199349049T>G	gnomAD
SATB2	Q9UPW6	p.His278Gln	rs1403689000	missense variant	-	NC_000002.12:g.199349040G>C	gnomAD
SATB2	Q9UPW6	p.Ser279Cys	rs758064649	missense variant	-	NC_000002.12:g.199349039T>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser279Gly	rs758064649	missense variant	-	NC_000002.12:g.199349039T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro281Ser	rs752392251	missense variant	-	NC_000002.12:g.199349033G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro281Ala	rs752392251	missense variant	-	NC_000002.12:g.199349033G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg283Ter	rs797044874	stop gained	-	NC_000002.12:g.199349027G>A	-
SATB2	Q9UPW6	p.Arg283Ter	RCV000686152	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349027G>A	ClinVar
SATB2	Q9UPW6	p.Arg283Ter	RCV000190685	nonsense	Inborn genetic diseases	NC_000002.12:g.199349027G>A	ClinVar
SATB2	Q9UPW6	p.Arg283Ter	RCV000254800	nonsense	-	NC_000002.12:g.199349027G>A	ClinVar
SATB2	Q9UPW6	p.Arg283Gln	rs754582487	missense variant	-	NC_000002.12:g.199349026C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Gln285Ter	RCV000760767	nonsense	-	NC_000002.12:g.199349021G>A	ClinVar
SATB2	Q9UPW6	p.Val286Ala	rs1190937317	missense variant	-	NC_000002.12:g.199349017A>G	gnomAD
SATB2	Q9UPW6	p.Pro287Ser	rs768080548	missense variant	-	NC_000002.12:g.199349015G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala288Thr	RCV000646088	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349012C>T	ClinVar
SATB2	Q9UPW6	p.Ala288Thr	rs142825652	missense variant	-	NC_000002.12:g.199349012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln290Ter	rs1057518496	stop gained	-	NC_000002.12:g.199349006G>A	-
SATB2	Q9UPW6	p.Gln290Ter	RCV000413829	nonsense	-	NC_000002.12:g.199349006G>A	ClinVar
SATB2	Q9UPW6	p.Gln290Ter	RCV000624904	nonsense	Inborn genetic diseases	NC_000002.12:g.199349006G>A	ClinVar
SATB2	Q9UPW6	p.Met293Val	rs763241238	missense variant	-	NC_000002.12:g.199348997T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met293Ile	rs79794576	missense variant	-	NC_000002.12:g.199348995C>T	1000Genomes,TOPMed
SATB2	Q9UPW6	p.Ser294Asn	rs775852251	missense variant	-	NC_000002.12:g.199348993C>T	ExAC
SATB2	Q9UPW6	p.Leu297Phe	rs759677622	missense variant	-	NC_000002.12:g.199348985G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser299Ter	RCV000520556	frameshift	-	NC_000002.12:g.199348981del	ClinVar
SATB2	Q9UPW6	p.Ser303Asn	rs1215347266	missense variant	-	NC_000002.12:g.199348966C>T	TOPMed
SATB2	Q9UPW6	p.Ala312Val	rs746753960	missense variant	-	NC_000002.12:g.199348939G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Gln320His	rs1368984135	missense variant	-	NC_000002.12:g.199348914C>A	gnomAD
SATB2	Q9UPW6	p.Val323Ile	rs778684147	missense variant	-	NC_000002.12:g.199348907C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg325Gln	RCV000691713	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348900C>T	ClinVar
SATB2	Q9UPW6	p.Gln333Glu	rs1424984467	missense variant	-	NC_000002.12:g.199348877G>C	gnomAD
SATB2	Q9UPW6	p.Gln333Ter	rs1424984467	stop gained	-	NC_000002.12:g.199348877G>A	gnomAD
SATB2	Q9UPW6	p.Gln333Ter	RCV000599413	nonsense	-	NC_000002.12:g.199348877G>A	ClinVar
SATB2	Q9UPW6	p.Ala334Thr	RCV000646089	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348874C>T	ClinVar
SATB2	Q9UPW6	p.Ala334Thr	rs754385480	missense variant	-	NC_000002.12:g.199348874C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala334Asp	rs1481732485	missense variant	-	NC_000002.12:g.199348873G>T	gnomAD
SATB2	Q9UPW6	p.Gln338Glu	rs1222623089	missense variant	-	NC_000002.12:g.199348862G>C	gnomAD
SATB2	Q9UPW6	p.Pro344Ser	rs753421853	missense variant	-	NC_000002.12:g.199348844G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ile345Val	rs1180112158	missense variant	-	NC_000002.12:g.199348841T>C	gnomAD
SATB2	Q9UPW6	p.Arg347Lys	rs757817590	missense variant	-	NC_000002.12:g.199348834C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr354Ala	rs764552856	missense variant	-	NC_000002.12:g.199348814T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Asn355Thr	rs1283962528	missense variant	-	NC_000002.12:g.199348810T>G	TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn355Ile	rs1283962528	missense variant	-	NC_000002.12:g.199348810T>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser357Phe	rs1409295633	missense variant	-	NC_000002.12:g.199348804G>A	gnomAD
SATB2	Q9UPW6	p.Val358Leu	rs765504446	missense variant	-	NC_000002.12:g.199348802C>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val358Met	rs765504446	missense variant	-	NC_000002.12:g.199348802C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro362Ala	rs369487539	missense variant	-	NC_000002.12:g.199348790G>C	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asp370Glu	rs1183863165	missense variant	-	NC_000002.12:g.199348764A>T	gnomAD
SATB2	Q9UPW6	p.Ser378Ter	RCV000209866	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348742_199348743AC[2]	ClinVar
SATB2	Q9UPW6	p.Val381Gly	RCV000708553	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348732A>C	ClinVar
SATB2	Q9UPW6	p.Arg389His	rs1247886882	missense variant	-	NC_000002.12:g.199348708C>T	gnomAD
SATB2	Q9UPW6	p.Arg389Cys	RCV000623230	missense variant	Inborn genetic diseases	NC_000002.12:g.199348709G>A	ClinVar
SATB2	Q9UPW6	p.Thr390Ile	RCV000199456	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348705G>A	ClinVar
SATB2	Q9UPW6	p.Thr390Ile	rs863224917	missense variant	-	NC_000002.12:g.199348705G>A	-
SATB2	Q9UPW6	p.Gln391Ter	RCV000708554	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348703G>A	ClinVar
SATB2	Q9UPW6	p.Gly392Glu	rs1085308028	missense variant	-	NC_000002.12:g.199328909C>T	-
SATB2	Q9UPW6	p.Gly392Glu	RCV000489186	missense variant	-	NC_000002.12:g.199328909C>T	ClinVar
SATB2	Q9UPW6	p.Glu396Gln	RCV000708555	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328898C>G	ClinVar
SATB2	Q9UPW6	p.Arg399His	rs1057518190	missense variant	-	NC_000002.12:g.199328888C>T	-
SATB2	Q9UPW6	p.Arg399Ter	RCV000624362	frameshift	Inborn genetic diseases	NC_000002.12:g.199328888del	ClinVar
SATB2	Q9UPW6	p.Arg399His	RCV000824998	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328888C>T	ClinVar
SATB2	Q9UPW6	p.Arg399His	RCV000413401	missense variant	-	NC_000002.12:g.199328888C>T	ClinVar
SATB2	Q9UPW6	p.Lys400Glu	rs1057519013	missense variant	-	NC_000002.12:g.199328886T>C	-
SATB2	Q9UPW6	p.Lys400Glu	RCV000415356	missense variant	-	NC_000002.12:g.199328886T>C	ClinVar
SATB2	Q9UPW6	p.Pro404Ser	rs1193806941	missense variant	-	NC_000002.12:g.199328874G>A	gnomAD
SATB2	Q9UPW6	p.Pro404His	rs766601179	missense variant	-	NC_000002.12:g.199328873G>T	ExAC
SATB2	Q9UPW6	p.Arg405Trp	rs1432580321	missense variant	-	NC_000002.12:g.199328871G>A	gnomAD
SATB2	Q9UPW6	p.Arg405Gln	rs756117282	missense variant	-	NC_000002.12:g.199328870C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr406Ile	rs1187345550	missense variant	-	NC_000002.12:g.199328867G>A	TOPMed
SATB2	Q9UPW6	p.Val413Ile	rs1171330843	missense variant	-	NC_000002.12:g.199328847C>T	TOPMed
SATB2	Q9UPW6	p.Arg416Lys	rs1341868380	missense variant	-	NC_000002.12:g.199328837C>T	gnomAD
SATB2	Q9UPW6	p.Met418Arg	RCV000623479	missense variant	Inborn genetic diseases	NC_000002.12:g.199328831A>C	ClinVar
SATB2	Q9UPW6	p.Met418Arg	rs1553547885	missense variant	-	NC_000002.12:g.199328831A>C	-
SATB2	Q9UPW6	p.Leu424Val	rs1375969185	missense variant	-	NC_000002.12:g.199328814G>C	TOPMed
SATB2	Q9UPW6	p.Pro425Ser	rs762673534	missense variant	-	NC_000002.12:g.199328811G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu426Asp	rs775219160	missense variant	-	NC_000002.12:g.199328806T>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val427Leu	rs1306994967	missense variant	-	NC_000002.12:g.199328805C>A	gnomAD
SATB2	Q9UPW6	p.Arg429Ter	RCV000307104	nonsense	-	NC_000002.12:g.199328799G>A	ClinVar
SATB2	Q9UPW6	p.Arg429Ter	RCV000763469	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328799G>A	ClinVar
SATB2	Q9UPW6	p.Arg429Gln	rs886041516	missense variant	-	NC_000002.12:g.199328798C>T	-
SATB2	Q9UPW6	p.Arg429Ter	rs886041847	stop gained	-	NC_000002.12:g.199328799G>A	TOPMed
SATB2	Q9UPW6	p.Arg429Gln	RCV000300452	missense variant	-	NC_000002.12:g.199328798C>T	ClinVar
SATB2	Q9UPW6	p.Arg429Gln	RCV000708556	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328798C>T	ClinVar
SATB2	Q9UPW6	p.Arg431Cys	rs769604856	missense variant	-	NC_000002.12:g.199328793G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg431Leu	rs745320639	missense variant	-	NC_000002.12:g.199328792C>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg431His	rs745320639	missense variant	-	NC_000002.12:g.199328792C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg439Trp	rs1480791365	missense variant	-	NC_000002.12:g.199328769G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg439Ter	RCV000715123	frameshift	History of neurodevelopmental disorder	NC_000002.12:g.199328773_199328776dup	ClinVar
SATB2	Q9UPW6	p.Ser440Asn	rs1251222127	missense variant	-	NC_000002.12:g.199328765C>T	gnomAD
SATB2	Q9UPW6	p.Met441Val	rs926443498	missense variant	-	NC_000002.12:g.199328763T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Met441Thr	rs1294387707	missense variant	-	NC_000002.12:g.199328762A>G	TOPMed
SATB2	Q9UPW6	p.Pro443Thr	rs748680983	missense variant	-	NC_000002.12:g.199328757G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Asn444Ser	rs779346411	missense variant	-	NC_000002.12:g.199328753T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met447Thr	rs749656722	missense variant	-	NC_000002.12:g.199328744A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Met447Val	rs1265520683	missense variant	-	NC_000002.12:g.199328745T>C	gnomAD
SATB2	Q9UPW6	p.Ser449Cys	rs1323623166	missense variant	-	NC_000002.12:g.199328738G>C	gnomAD
SATB2	Q9UPW6	p.Ser450Leu	rs1278503270	missense variant	-	NC_000002.12:g.199328735G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala451Val	rs1210717946	missense variant	-	NC_000002.12:g.199328732G>A	TOPMed
SATB2	Q9UPW6	p.Pro455Ser	rs1235823852	missense variant	-	NC_000002.12:g.199328721G>A	TOPMed
SATB2	Q9UPW6	p.Arg459Ter	RCV000625170	nonsense	Cleft palate, isolated (CPI)	NC_000002.12:g.199328709G>A	ClinVar
SATB2	Q9UPW6	p.Arg459Ter	RCV000680089	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328709G>A	ClinVar
SATB2	Q9UPW6	p.Arg459Ter	rs1553547838	stop gained	-	NC_000002.12:g.199328709G>A	-
SATB2	Q9UPW6	p.Arg459Ter	RCV000719613	nonsense	History of neurodevelopmental disorder	NC_000002.12:g.199328709G>A	ClinVar
SATB2	Q9UPW6	p.Thr460Ala	rs756308951	missense variant	-	NC_000002.12:g.199328706T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr460Asn	rs1329250891	missense variant	-	NC_000002.12:g.199328705G>T	gnomAD
SATB2	Q9UPW6	p.Pro461Ala	rs1451676503	missense variant	-	NC_000002.12:g.199328703G>C	gnomAD
SATB2	Q9UPW6	p.Ala463Val	rs1024314266	missense variant	-	NC_000002.12:g.199323957G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Thr465Ter	RCV000599501	frameshift	-	NC_000002.12:g.199323955dup	ClinVar
SATB2	Q9UPW6	p.Ser466Leu	rs780366664	missense variant	-	NC_000002.12:g.199323948G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser466Ala	rs1402503767	missense variant	-	NC_000002.12:g.199323949A>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser466Thr	rs1402503767	missense variant	-	NC_000002.12:g.199323949A>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro468Gln	rs746076990	missense variant	-	NC_000002.12:g.199323942G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro468Thr	rs770212471	missense variant	-	NC_000002.12:g.199323943G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro468Leu	rs746076990	missense variant	-	NC_000002.12:g.199323942G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Thr470Ile	rs777720531	missense variant	-	NC_000002.12:g.199323936G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Leu472Phe	rs752719791	missense variant	-	NC_000002.12:g.199323931G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ile474Val	rs765116524	missense variant	-	NC_000002.12:g.199323925T>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile474Leu	rs765116524	missense variant	-	NC_000002.12:g.199323925T>G	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val476Met	rs759458466	missense variant	-	NC_000002.12:g.199323919C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Asp477Glu	rs765952558	missense variant	-	NC_000002.12:g.199323914G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala479Thr	rs772617927	missense variant	-	NC_000002.12:g.199323910C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn480Ser	rs201864116	missense variant	-	NC_000002.12:g.199323906T>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile481Val	RCV000697845	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199323904T>C	ClinVar
SATB2	Q9UPW6	p.Asn482Ser	rs1302645769	missense variant	-	NC_000002.12:g.199323900T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile483Val	rs1367720345	missense variant	-	NC_000002.12:g.199323898T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile487Val	rs763448261	missense variant	-	NC_000002.12:g.199323886T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu490Gly	rs781440499	missense variant	-	NC_000002.12:g.199323876T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu490Lys	rs746239023	missense variant	-	NC_000002.12:g.199323877C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu494Val	rs1057524205	missense variant	-	NC_000002.12:g.199323864T>A	-
SATB2	Q9UPW6	p.Glu494Val	RCV000422578	missense variant	-	NC_000002.12:g.199323864T>A	ClinVar
SATB2	Q9UPW6	p.Lys499Glu	rs878853163	missense variant	-	NC_000002.12:g.199323850T>C	TOPMed
SATB2	Q9UPW6	p.Lys499Ter	rs878853163	stop gained	-	NC_000002.12:g.199323850T>A	TOPMed
SATB2	Q9UPW6	p.Lys499Ter	RCV000224980	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199323850T>A	ClinVar
SATB2	Q9UPW6	p.Phe505Ter	RCV000255520	frameshift	-	NC_000002.12:g.199323832del	ClinVar
SATB2	Q9UPW6	p.Ala506Ter	RCV000521883	frameshift	-	NC_000002.12:g.199323829_199323830insT	ClinVar
SATB2	Q9UPW6	p.Gly515Ser	rs1553544187	missense variant	-	NC_000002.12:g.199308957C>T	-
SATB2	Q9UPW6	p.Gly515Ser	RCV000656510	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308957C>T	ClinVar
SATB2	Q9UPW6	p.Arg522Ser	rs1223371144	missense variant	-	NC_000002.12:g.199308936G>T	gnomAD
SATB2	Q9UPW6	p.Lys524Met	rs1371458987	missense variant	-	NC_000002.12:g.199308929T>A	gnomAD
SATB2	Q9UPW6	p.Ser528Gly	rs1490098266	missense variant	-	NC_000002.12:g.199308918T>C	TOPMed
SATB2	Q9UPW6	p.Ser528Gly	RCV000717957	missense variant	History of neurodevelopmental disorder	NC_000002.12:g.199308918T>C	ClinVar
SATB2	Q9UPW6	p.Asn531Ter	RCV000533352	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308911dup	ClinVar
SATB2	Q9UPW6	p.Cys539Tyr	rs755996970	missense variant	-	NC_000002.12:g.199308884C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr540Ile	rs749986143	missense variant	-	NC_000002.12:g.199308881G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg542Cys	rs767163210	missense variant	-	NC_000002.12:g.199308876G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg543Cys	rs756719862	missense variant	-	NC_000002.12:g.199308873G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg543His	rs1178625025	missense variant	-	NC_000002.12:g.199308872C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg543Ter	RCV000496200	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308873del	ClinVar
SATB2	Q9UPW6	p.Pro548Ser	rs1411889903	missense variant	-	NC_000002.12:g.199308858G>A	gnomAD
SATB2	Q9UPW6	p.Arg552Ter	RCV000626779	frameshift	Global developmental delay (DD)	NC_000002.12:g.199308846_199308847TC[1]	ClinVar
SATB2	Q9UPW6	p.Asp553Gly	rs1407936376	missense variant	-	NC_000002.12:g.199308842T>C	TOPMed
SATB2	Q9UPW6	p.Val554Ile	rs1201673032	missense variant	-	NC_000002.12:g.199308840C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Val554Ile	RCV000704967	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308840C>T	ClinVar
SATB2	Q9UPW6	p.Ile555Val	rs1462605845	missense variant	-	NC_000002.12:g.199308837T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu557Asp	rs377609161	missense variant	-	NC_000002.12:g.199308829C>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu566Lys	RCV000656509	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308804C>T	ClinVar
SATB2	Q9UPW6	p.Arg567Cys	rs777257792	missense variant	-	NC_000002.12:g.199308801G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Met568Ile	rs1042085577	missense variant	-	NC_000002.12:g.199308796C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Met568Leu	rs761112090	missense variant	-	NC_000002.12:g.199308798T>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Met568Leu	rs761112090	missense variant	-	NC_000002.12:g.199308798T>G	ExAC,gnomAD
SATB2	Q9UPW6	p.His570Leu	rs773498253	missense variant	-	NC_000002.12:g.199308791T>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Val571Met	rs188013011	missense variant	-	NC_000002.12:g.199308789C>T	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Val571Leu	rs188013011	missense variant	-	NC_000002.12:g.199308789C>A	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Leu574His	rs774550702	missense variant	-	NC_000002.12:g.199308779A>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro575Ser	rs1010344792	missense variant	-	NC_000002.12:g.199308777G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro576Leu	rs532416594	missense variant	-	NC_000002.12:g.199308773G>A	1000Genomes,TOPMed
SATB2	Q9UPW6	p.Pro576Thr	rs749170294	missense variant	-	NC_000002.12:g.199308774G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro576His	rs532416594	missense variant	-	NC_000002.12:g.199308773G>T	1000Genomes,TOPMed
SATB2	Q9UPW6	p.Pro576Ser	rs749170294	missense variant	-	NC_000002.12:g.199308774G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu577Ter	RCV000623085	frameshift	Inborn genetic diseases	NC_000002.12:g.199308770_199308771del	ClinVar
SATB2	Q9UPW6	p.Pro578Leu	rs1160832366	missense variant	-	NC_000002.12:g.199308767G>A	gnomAD
SATB2	Q9UPW6	p.Pro578Thr	rs780054309	missense variant	-	NC_000002.12:g.199308768G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.His583Arg	rs924452849	missense variant	-	NC_000002.12:g.199272665T>C	TOPMed
SATB2	Q9UPW6	p.Gln586Ter	RCV000760677	nonsense	-	NC_000002.12:g.199272657G>A	ClinVar
SATB2	Q9UPW6	p.Ser593Asn	rs751007411	missense variant	-	NC_000002.12:g.199272635C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser593Gly	rs1168221672	missense variant	-	NC_000002.12:g.199272636T>C	TOPMed
SATB2	Q9UPW6	p.Ala600Val	rs751765693	missense variant	-	NC_000002.12:g.199272614G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro602Thr	rs1401231161	missense variant	-	NC_000002.12:g.199272609G>T	TOPMed
SATB2	Q9UPW6	p.Pro602Leu	rs533594267	missense variant	-	NC_000002.12:g.199272608G>A	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro602His	rs533594267	missense variant	-	NC_000002.12:g.199272608G>T	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro603Ser	rs1266946747	missense variant	-	NC_000002.12:g.199272606G>A	gnomAD
SATB2	Q9UPW6	p.Pro606Ala	rs1452420369	missense variant	-	NC_000002.12:g.199272597G>C	gnomAD
SATB2	Q9UPW6	p.Ser610Gly	rs1048433974	missense variant	-	NC_000002.12:g.199272585T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro615Ser	rs1394335364	missense variant	-	NC_000002.12:g.199272570G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser617Phe	rs776611711	missense variant	-	NC_000002.12:g.199272563G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg618His	rs1223479618	missense variant	-	NC_000002.12:g.199272560C>T	gnomAD
SATB2	Q9UPW6	p.Thr619Ala	rs746809112	missense variant	-	NC_000002.12:g.199272558T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu643Lys	rs1553538927	missense variant	-	NC_000002.12:g.199272486C>T	-
SATB2	Q9UPW6	p.Glu643Lys	RCV000520970	missense variant	-	NC_000002.12:g.199272486C>T	ClinVar
SATB2	Q9UPW6	p.His646Asp	rs1331951748	missense variant	-	NC_000002.12:g.199272477G>C	gnomAD
SATB2	Q9UPW6	p.Leu648Ter	RCV000413155	frameshift	-	NC_000002.12:g.199272470_199272471AG[1]	ClinVar
SATB2	Q9UPW6	p.Ser649Ter	RCV000708557	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272470dup	ClinVar
SATB2	Q9UPW6	p.Ser649Leu	rs746319722	missense variant	-	NC_000002.12:g.199272467G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser649Leu	RCV000658445	missense variant	-	NC_000002.12:g.199272467G>A	ClinVar
SATB2	Q9UPW6	p.Pro655Leu	RCV000502290	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272449G>A	ClinVar
SATB2	Q9UPW6	p.Pro655Leu	rs1553538919	missense variant	-	NC_000002.12:g.199272449G>A	-
SATB2	Q9UPW6	p.Ile659Val	rs1478232447	missense variant	-	NC_000002.12:g.199272438T>C	TOPMed
SATB2	Q9UPW6	p.Gln664Ter	rs1553538917	stop gained	-	NC_000002.12:g.199272423G>A	-
SATB2	Q9UPW6	p.Gln664His	rs144750620	missense variant	-	NC_000002.12:g.199272421C>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln664Ter	RCV000626778	nonsense	Global developmental delay (DD)	NC_000002.12:g.199272423G>A	ClinVar
SATB2	Q9UPW6	p.Arg667Trp	rs751977362	missense variant	-	NC_000002.12:g.199272414G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg667Leu	RCV000704733	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272413C>A	ClinVar
SATB2	Q9UPW6	p.Val670Met	rs758618655	missense variant	-	NC_000002.12:g.199272405C>T	ExAC
SATB2	Q9UPW6	p.His673Ter	RCV000708558	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272395dup	ClinVar
SATB2	Q9UPW6	p.Gly674Arg	rs765349371	missense variant	-	NC_000002.12:g.199272393C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Lys675Thr	rs1397644010	missense variant	-	NC_000002.12:g.199272389T>G	TOPMed
SATB2	Q9UPW6	p.Leu676Met	rs138968934	missense variant	-	NC_000002.12:g.199272387G>T	ESP,TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys677Asn	rs1260665634	missense variant	-	NC_000002.12:g.199272382T>G	gnomAD
SATB2	Q9UPW6	p.Glu678Asp	rs147191297	missense variant	-	NC_000002.12:g.199272379C>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu678Asp	rs147191297	missense variant	-	NC_000002.12:g.199272379C>A	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.His679Arg	rs1345171175	missense variant	-	NC_000002.12:g.199272377T>C	gnomAD
SATB2	Q9UPW6	p.Leu680Pro	rs1437550190	missense variant	-	NC_000002.12:g.199272374A>G	TOPMed
SATB2	Q9UPW6	p.Leu680Val	rs766332901	missense variant	-	NC_000002.12:g.199272375G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala683Val	rs1451743452	missense variant	-	NC_000002.12:g.199272365G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala683Thr	rs372032415	missense variant	-	NC_000002.12:g.199272366C>T	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala683Thr	RCV000646087	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272366C>T	ClinVar
SATB2	Q9UPW6	p.Val684Ter	RCV000599133	frameshift	-	NC_000002.12:g.199272364dup	ClinVar
SATB2	Q9UPW6	p.Val686Met	rs773932097	missense variant	-	NC_000002.12:g.199272357C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu692Ter	RCV000708559	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272339C>A	ClinVar
SATB2	Q9UPW6	p.Glu699Gly	rs1197844648	missense variant	-	NC_000002.12:g.199272317T>C	TOPMed
SATB2	Q9UPW6	p.Asp702Asn	rs1443276216	missense variant	-	NC_000002.12:g.199272309C>T	gnomAD
SATB2	Q9UPW6	p.Ser703Arg	rs148851926	missense variant	-	NC_000002.12:g.199272304G>T	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu704Lys	rs747513035	missense variant	-	NC_000002.12:g.199272303C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu705Gln	rs200723657	missense variant	-	NC_000002.12:g.199272300C>G	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Gly706Ser	rs1553538875	missense variant	-	NC_000002.12:g.199272297C>T	-
SATB2	Q9UPW6	p.Gly706Ser	RCV000646086	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272297C>T	ClinVar
SATB2	Q9UPW6	p.Ser707Tyr	rs752910885	missense variant	-	NC_000002.12:g.199272293G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser707Cys	rs752910885	missense variant	-	NC_000002.12:g.199272293G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met710Ile	rs1286415699	missense variant	-	NC_000002.12:g.199272283C>T	gnomAD
SATB2	Q9UPW6	p.Lys712Glu	rs146644021	missense variant	-	NC_000002.12:g.199272279T>C	ESP,gnomAD
SATB2	Q9UPW6	p.Lys712Arg	rs999561200	missense variant	-	NC_000002.12:g.199272278T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys712Gln	rs146644021	missense variant	-	NC_000002.12:g.199272279T>G	ESP,gnomAD
SATB2	Q9UPW6	p.Ala720Ser	rs531933724	missense variant	-	NC_000002.12:g.199272255C>A	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Ser723Asn	rs750394257	missense variant	-	NC_000002.12:g.199272245C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Lys724Asn	rs915648697	missense variant	-	NC_000002.12:g.199272241C>G	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys724Glu	rs1421713467	missense variant	-	NC_000002.12:g.199272243T>C	gnomAD
SATB2	Q9UPW6	p.Lys724Thr	rs1361438994	missense variant	-	NC_000002.12:g.199272242T>G	gnomAD
SATB2	Q9UPW6	p.Ala725Val	rs767329844	missense variant	-	NC_000002.12:g.199272239G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala725Thr	rs1423097949	missense variant	-	NC_000002.12:g.199272240C>T	gnomAD
SATB2	Q9UPW6	p.Ala726Thr	rs551624897	missense variant	-	NC_000002.12:g.199272237C>T	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala726Thr	RCV000540212	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272237C>T	ClinVar
SATB2	Q9UPW6	p.Pro727Ser	rs1392711751	missense variant	-	NC_000002.12:g.199272234G>A	TOPMed
SATB2	Q9UPW6	p.Pro727Arg	rs1240942211	missense variant	-	NC_000002.12:g.199272233G>C	gnomAD
SATB2	Q9UPW6	p.Ala728Pro	rs377368865	missense variant	-	NC_000002.12:g.199272231C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala728Gly	rs140532313	missense variant	-	NC_000002.12:g.199272230G>C	ESP,ExAC,TOPMed
SATB2	Q9UPW6	p.Glu729Lys	rs1489038642	missense variant	-	NC_000002.12:g.199272228C>T	gnomAD
SATB2	Q9UPW6	p.Ile730Thr	rs373319001	missense variant	-	NC_000002.12:g.199272224A>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile730Asn	rs373319001	missense variant	-	NC_000002.12:g.199272224A>T	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln732His	rs778160560	missense variant	-	NC_000002.12:g.199272217C>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Met1Val	RCV000578907	missense variant	-	NC_000002.12:g.199456037T>C	ClinVar
SATB2	Q9UPW6	p.Arg4Gln	rs1463296675	missense variant	-	NC_000002.12:g.199456027C>T	gnomAD
SATB2	Q9UPW6	p.Glu6Lys	rs1434320727	missense variant	-	NC_000002.12:g.199456022C>T	gnomAD
SATB2	Q9UPW6	p.Ser7Ter	RCV000519084	frameshift	-	NC_000002.12:g.199456019dup	ClinVar
SATB2	Q9UPW6	p.Ser7Ter	RCV000709933	frameshift	SATB2-Related Disorder	NC_000002.12:g.199456019dup	ClinVar
SATB2	Q9UPW6	p.Cys9Arg	rs1361158169	missense variant	-	NC_000002.12:g.199456013A>G	TOPMed
SATB2	Q9UPW6	p.Cys9Ser	rs1209144312	missense variant	-	NC_000002.12:g.199456012C>G	gnomAD
SATB2	Q9UPW6	p.Asp12Asn	rs1282358129	missense variant	-	NC_000002.12:g.199456004C>T	gnomAD
SATB2	Q9UPW6	p.Arg16Gln	rs1295030903	missense variant	-	NC_000002.12:g.199455991C>T	gnomAD
SATB2	Q9UPW6	p.Ser18Arg	rs747894251	missense variant	-	NC_000002.12:g.199455984G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Asp22Glu	rs1405630119	missense variant	-	NC_000002.12:g.199455972G>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys24Arg	rs1176416627	missense variant	-	NC_000002.12:g.199455967T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro26Ala	rs1473042227	missense variant	-	NC_000002.12:g.199455962G>C	gnomAD
SATB2	Q9UPW6	p.Pro27Ser	rs989025045	missense variant	-	NC_000002.12:g.199455959G>A	TOPMed
SATB2	Q9UPW6	p.Pro28Ter	RCV000394237	frameshift	-	NC_000002.12:g.199455959del	ClinVar
SATB2	Q9UPW6	p.Pro28Leu	rs1367686940	missense variant	-	NC_000002.12:g.199455955G>A	gnomAD
SATB2	Q9UPW6	p.Lys30Asn	rs1176548430	missense variant	-	NC_000002.12:g.199455948C>A	TOPMed
SATB2	Q9UPW6	p.Ala32Thr	rs1461281024	missense variant	-	NC_000002.12:g.199455944C>T	gnomAD
SATB2	Q9UPW6	p.Arg33Trp	rs1392839872	missense variant	-	NC_000002.12:g.199455941G>A	gnomAD
SATB2	Q9UPW6	p.Gln36His	rs1165492597	missense variant	-	NC_000002.12:g.199455930C>G	gnomAD
SATB2	Q9UPW6	p.Gly38Ser	rs1458922428	missense variant	-	NC_000002.12:g.199455926C>T	gnomAD
SATB2	Q9UPW6	p.Ser39Asn	rs1208341343	missense variant	-	NC_000002.12:g.199455922C>T	gnomAD
SATB2	Q9UPW6	p.Pro40Ser	rs1191904885	missense variant	-	NC_000002.12:g.199455920G>A	gnomAD
SATB2	Q9UPW6	p.Met41Val	rs919635073	missense variant	-	NC_000002.12:g.199455917T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Gly42Ter	RCV000486598	nonsense	-	NC_000002.12:g.199455914C>A	ClinVar
SATB2	Q9UPW6	p.Gly42Ter	rs1064793947	stop gained	-	NC_000002.12:g.199455914C>A	-
SATB2	Q9UPW6	p.Ala43Thr	rs1249539770	missense variant	-	NC_000002.12:g.199455911C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn48Ser	rs1467878282	missense variant	-	NC_000002.12:g.199455895T>C	gnomAD
SATB2	Q9UPW6	p.Asn48Asp	rs1188890432	missense variant	-	NC_000002.12:g.199455896T>C	gnomAD
SATB2	Q9UPW6	p.Val51Met	rs540871216	missense variant	-	NC_000002.12:g.199455887C>T	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala52Val	RCV000762309	missense variant	-	NC_000002.12:g.199455883G>A	ClinVar
SATB2	Q9UPW6	p.Ala52Val	rs1357016064	missense variant	-	NC_000002.12:g.199455883G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala54Ser	rs1446614613	missense variant	-	NC_000002.12:g.199455878C>A	TOPMed
SATB2	Q9UPW6	p.Val55Met	rs748892556	missense variant	-	NC_000002.12:g.199455875C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val55Ala	rs1226310700	missense variant	-	NC_000002.12:g.199455874A>G	gnomAD
SATB2	Q9UPW6	p.Val55Leu	rs748892556	missense variant	-	NC_000002.12:g.199455875C>G	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Met59Val	rs1478238325	missense variant	-	NC_000002.12:g.199433509T>C	gnomAD
SATB2	Q9UPW6	p.Val62Asp	rs1064796649	missense variant	-	NC_000002.12:g.199433499A>T	-
SATB2	Q9UPW6	p.Val62Asp	RCV000479021	missense variant	-	NC_000002.12:g.199433499A>T	ClinVar
SATB2	Q9UPW6	p.Val65Ile	rs749125541	missense variant	-	NC_000002.12:g.199433491C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Val66Met	rs1252596825	missense variant	-	NC_000002.12:g.199433488C>T	gnomAD
SATB2	Q9UPW6	p.Leu69Met	rs745323861	missense variant	-	NC_000002.12:g.199433479A>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gly71Cys	rs756865617	missense variant	-	NC_000002.12:g.199433473C>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Gly71Ser	rs756865617	missense variant	-	NC_000002.12:g.199433473C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser72Cys	rs755238845	missense variant	-	NC_000002.12:g.199433469G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser72Pro	rs753249521	missense variant	-	NC_000002.12:g.199433470A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser72Tyr	rs755238845	missense variant	-	NC_000002.12:g.199433469G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Tyr75Cys	rs750686286	missense variant	-	NC_000002.12:g.199433460T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Tyr75His	rs760905348	missense variant	-	NC_000002.12:g.199433461A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg78Lys	rs767582582	missense variant	-	NC_000002.12:g.199433451C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Phe84Val	rs548822205	missense variant	-	NC_000002.12:g.199433434A>C	1000Genomes
SATB2	Q9UPW6	p.Arg88Gln	rs530118484	missense variant	-	NC_000002.12:g.199433421C>T	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Lys89Arg	rs769528257	missense variant	-	NC_000002.12:g.199433418T>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Leu92Pro	rs746334982	missense variant	-	NC_000002.12:g.199433409A>G	gnomAD
SATB2	Q9UPW6	p.Leu96Arg	rs1064795247	missense variant	-	NC_000002.12:g.199433397A>C	-
SATB2	Q9UPW6	p.Leu96Arg	RCV000485845	missense variant	-	NC_000002.12:g.199433397A>C	ClinVar
SATB2	Q9UPW6	p.Leu102Ter	RCV000585548	frameshift	-	NC_000002.12:g.199433379del	ClinVar
SATB2	Q9UPW6	p.Ala111Val	rs1376331026	missense variant	-	NC_000002.12:g.199433352G>A	gnomAD
SATB2	Q9UPW6	p.Gln113Ter	RCV000760901	nonsense	-	NC_000002.12:g.199433347G>A	ClinVar
SATB2	Q9UPW6	p.Gln115Ter	RCV000695069	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199433341G>A	ClinVar
SATB2	Q9UPW6	p.Gly116Arg	RCV000494383	missense variant	-	NC_000002.12:g.199433338C>G	ClinVar
SATB2	Q9UPW6	p.Gly116Arg	rs1131691672	missense variant	-	NC_000002.12:g.199433338C>G	-
SATB2	Q9UPW6	p.Lys119Asn	rs1185687010	missense variant	-	NC_000002.12:g.199381810C>A	TOPMed
SATB2	Q9UPW6	p.Arg122Thr	rs1182083147	missense variant	-	NC_000002.12:g.199381802C>G	gnomAD
SATB2	Q9UPW6	p.Arg122Ter	RCV000598591	nonsense	-	NC_000002.12:g.199381799del	ClinVar
SATB2	Q9UPW6	p.Tyr130Cys	rs372822699	missense variant	-	NC_000002.12:g.199381778T>C	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val131Glu	rs1064794638	missense variant	-	NC_000002.12:g.199381775A>T	-
SATB2	Q9UPW6	p.Val131Glu	RCV000485195	missense variant	-	NC_000002.12:g.199381775A>T	ClinVar
SATB2	Q9UPW6	p.Ala137Val	rs746240750	missense variant	-	NC_000002.12:g.199381757G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala137Thr	rs1454219036	missense variant	-	NC_000002.12:g.199381758C>T	TOPMed
SATB2	Q9UPW6	p.Asp141Glu	rs1401692784	missense variant	-	NC_000002.12:g.199381744G>T	gnomAD
SATB2	Q9UPW6	p.Met142Ile	rs764205432	missense variant	-	NC_000002.12:g.199381741C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Met142Val	rs751779659	missense variant	-	NC_000002.12:g.199381743T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Val149Ala	rs765278258	missense variant	-	NC_000002.12:g.199381721A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr151Met	rs1414878673	missense variant	-	NC_000002.12:g.199381715G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys161Ter	RCV000479959	frameshift	-	NC_000002.12:g.199380481del	ClinVar
SATB2	Q9UPW6	p.Lys161Arg	rs1360355424	missense variant	-	NC_000002.12:g.199380479T>C	gnomAD
SATB2	Q9UPW6	p.Ala167Val	rs767084945	missense variant	-	NC_000002.12:g.199380461G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg176His	rs1321695489	missense variant	-	NC_000002.12:g.199380434C>T	gnomAD
SATB2	Q9UPW6	p.Arg176Cys	rs1367792848	missense variant	-	NC_000002.12:g.199380435G>A	gnomAD
SATB2	Q9UPW6	p.Asn177Ser	rs773873672	missense variant	-	NC_000002.12:g.199380431T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala178Val	rs1370873507	missense variant	-	NC_000002.12:g.199380428G>A	TOPMed
SATB2	Q9UPW6	p.Leu182Pro	RCV000479790	missense variant	-	NC_000002.12:g.199380416A>G	ClinVar
SATB2	Q9UPW6	p.Leu182Pro	rs1064795817	missense variant	-	NC_000002.12:g.199380416A>G	-
SATB2	Q9UPW6	p.Asn187His	rs559652196	missense variant	-	NC_000002.12:g.199380402T>G	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Gln188Lys	rs1391758713	missense variant	-	NC_000002.12:g.199380399G>T	gnomAD
SATB2	Q9UPW6	p.Thr190Ter	RCV000521695	frameshift	-	NC_000002.12:g.199380393dup	ClinVar
SATB2	Q9UPW6	p.Thr190Ser	rs1333077167	missense variant	-	NC_000002.12:g.199380393T>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn213Ser	rs1371535617	missense variant	-	NC_000002.12:g.199368667T>C	TOPMed
SATB2	Q9UPW6	p.Thr217Ile	rs777062011	missense variant	-	NC_000002.12:g.199368655G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Trp225Ter	RCV000760865	nonsense	-	NC_000002.12:g.199368631C>T	ClinVar
SATB2	Q9UPW6	p.Lys230Gln	rs1194385939	missense variant	-	NC_000002.12:g.199368617T>G	gnomAD
SATB2	Q9UPW6	p.Ile232Thr	RCV000646090	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199368610A>G	ClinVar
SATB2	Q9UPW6	p.Ile232Thr	rs773467832	missense variant	-	NC_000002.12:g.199368610A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu235Gly	rs1446810891	missense variant	-	NC_000002.12:g.199349170T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Val237Met	rs1377492362	missense variant	-	NC_000002.12:g.199349165C>T	gnomAD
SATB2	Q9UPW6	p.Arg239Ter	RCV000256175	nonsense	-	NC_000002.12:g.199349159G>A	ClinVar
SATB2	Q9UPW6	p.Arg239Gln	rs889085038	missense variant	-	NC_000002.12:g.199349158C>T	TOPMed
SATB2	Q9UPW6	p.Arg239Ter	RCV000002627	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349159G>A	ClinVar
SATB2	Q9UPW6	p.Arg239Ter	rs137853127	stop gained	-	NC_000002.12:g.199349159G>A	-
SATB2	Q9UPW6	p.Glu240Gly	rs763748099	missense variant	-	NC_000002.12:g.199349155T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Asn241His	rs757833654	missense variant	-	NC_000002.12:g.199349153T>G	ExAC
SATB2	Q9UPW6	p.Asp244Glu	rs766855879	missense variant	-	NC_000002.12:g.199349142G>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asp244Glu	rs766855879	missense variant	-	NC_000002.12:g.199349142G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asp244Glu	RCV000646085	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349142G>T	ClinVar
SATB2	Q9UPW6	p.Tyr245Asn	rs761063743	missense variant	-	NC_000002.12:g.199349141A>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Tyr245Ter	rs762870757	stop gained	-	NC_000002.12:g.199349139_199349140insC	ExAC
SATB2	Q9UPW6	p.Cys246Ser	rs372720155	missense variant	-	NC_000002.12:g.199349138A>T	ESP
SATB2	Q9UPW6	p.Cys246Ser	rs773808099	missense variant	-	NC_000002.12:g.199349137C>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val247Ile	rs767767817	missense variant	-	NC_000002.12:g.199349135C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Leu248Arg	rs200620268	missense variant	-	NC_000002.12:g.199349131A>C	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln250Ter	RCV000708552	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349126G>A	ClinVar
SATB2	Q9UPW6	p.Arg251Cys	rs1239435557	missense variant	-	NC_000002.12:g.199349123G>A	gnomAD
SATB2	Q9UPW6	p.Pro252Ala	rs769032202	missense variant	-	NC_000002.12:g.199349120G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met253Val	rs775411126	missense variant	-	NC_000002.12:g.199349117T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met253Ile	rs1318103404	missense variant	-	NC_000002.12:g.199349115C>T	gnomAD
SATB2	Q9UPW6	p.His254Arg	rs1027097947	missense variant	-	NC_000002.12:g.199349113T>C	TOPMed
SATB2	Q9UPW6	p.Asn257Lys	rs1000649173	missense variant	-	NC_000002.12:g.199349103A>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Met258Val	rs200074373	missense variant	-	NC_000002.12:g.199349102T>C	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser263Pro	rs12619995	missense variant	-	NC_000002.12:g.199349087A>G	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys266Arg	rs1364150345	missense variant	-	NC_000002.12:g.199349077T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Thr267Ala	rs1410113037	missense variant	-	NC_000002.12:g.199349075T>C	TOPMed
SATB2	Q9UPW6	p.Glu269Lys	rs1399958038	missense variant	-	NC_000002.12:g.199349069C>T	TOPMed
SATB2	Q9UPW6	p.Gln270Ter	RCV000623347	frameshift	Inborn genetic diseases	NC_000002.12:g.199349066_199349067del	ClinVar
SATB2	Q9UPW6	p.Gln275His	rs995750176	missense variant	-	NC_000002.12:g.199349049T>G	gnomAD
SATB2	Q9UPW6	p.His278Gln	rs1403689000	missense variant	-	NC_000002.12:g.199349040G>C	gnomAD
SATB2	Q9UPW6	p.Ser279Cys	rs758064649	missense variant	-	NC_000002.12:g.199349039T>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser279Gly	rs758064649	missense variant	-	NC_000002.12:g.199349039T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro281Ser	rs752392251	missense variant	-	NC_000002.12:g.199349033G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro281Ala	rs752392251	missense variant	-	NC_000002.12:g.199349033G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg283Ter	rs797044874	stop gained	-	NC_000002.12:g.199349027G>A	-
SATB2	Q9UPW6	p.Arg283Ter	RCV000686152	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349027G>A	ClinVar
SATB2	Q9UPW6	p.Arg283Ter	RCV000254800	nonsense	-	NC_000002.12:g.199349027G>A	ClinVar
SATB2	Q9UPW6	p.Arg283Ter	RCV000190685	nonsense	Inborn genetic diseases	NC_000002.12:g.199349027G>A	ClinVar
SATB2	Q9UPW6	p.Arg283Gln	rs754582487	missense variant	-	NC_000002.12:g.199349026C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Gln285Ter	RCV000760767	nonsense	-	NC_000002.12:g.199349021G>A	ClinVar
SATB2	Q9UPW6	p.Val286Ala	rs1190937317	missense variant	-	NC_000002.12:g.199349017A>G	gnomAD
SATB2	Q9UPW6	p.Pro287Ser	rs768080548	missense variant	-	NC_000002.12:g.199349015G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala288Thr	RCV000646088	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199349012C>T	ClinVar
SATB2	Q9UPW6	p.Ala288Thr	rs142825652	missense variant	-	NC_000002.12:g.199349012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln290Ter	RCV000624904	nonsense	Inborn genetic diseases	NC_000002.12:g.199349006G>A	ClinVar
SATB2	Q9UPW6	p.Gln290Ter	rs1057518496	stop gained	-	NC_000002.12:g.199349006G>A	-
SATB2	Q9UPW6	p.Gln290Ter	RCV000413829	nonsense	-	NC_000002.12:g.199349006G>A	ClinVar
SATB2	Q9UPW6	p.Met293Ile	rs79794576	missense variant	-	NC_000002.12:g.199348995C>T	1000Genomes,TOPMed
SATB2	Q9UPW6	p.Met293Val	rs763241238	missense variant	-	NC_000002.12:g.199348997T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser294Asn	rs775852251	missense variant	-	NC_000002.12:g.199348993C>T	ExAC
SATB2	Q9UPW6	p.Leu297Phe	rs759677622	missense variant	-	NC_000002.12:g.199348985G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser299Ter	RCV000520556	frameshift	-	NC_000002.12:g.199348981del	ClinVar
SATB2	Q9UPW6	p.Ser303Asn	rs1215347266	missense variant	-	NC_000002.12:g.199348966C>T	TOPMed
SATB2	Q9UPW6	p.Ala312Val	rs746753960	missense variant	-	NC_000002.12:g.199348939G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Gln320His	rs1368984135	missense variant	-	NC_000002.12:g.199348914C>A	gnomAD
SATB2	Q9UPW6	p.Val323Ile	rs778684147	missense variant	-	NC_000002.12:g.199348907C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg325Gln	RCV000691713	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348900C>T	ClinVar
SATB2	Q9UPW6	p.Gln333Ter	RCV000599413	nonsense	-	NC_000002.12:g.199348877G>A	ClinVar
SATB2	Q9UPW6	p.Gln333Ter	rs1424984467	stop gained	-	NC_000002.12:g.199348877G>A	gnomAD
SATB2	Q9UPW6	p.Gln333Glu	rs1424984467	missense variant	-	NC_000002.12:g.199348877G>C	gnomAD
SATB2	Q9UPW6	p.Ala334Thr	RCV000646089	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348874C>T	ClinVar
SATB2	Q9UPW6	p.Ala334Thr	rs754385480	missense variant	-	NC_000002.12:g.199348874C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala334Asp	rs1481732485	missense variant	-	NC_000002.12:g.199348873G>T	gnomAD
SATB2	Q9UPW6	p.Gln338Glu	rs1222623089	missense variant	-	NC_000002.12:g.199348862G>C	gnomAD
SATB2	Q9UPW6	p.Pro344Ser	rs753421853	missense variant	-	NC_000002.12:g.199348844G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ile345Val	rs1180112158	missense variant	-	NC_000002.12:g.199348841T>C	gnomAD
SATB2	Q9UPW6	p.Arg347Lys	rs757817590	missense variant	-	NC_000002.12:g.199348834C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr354Ala	rs764552856	missense variant	-	NC_000002.12:g.199348814T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Asn355Ile	rs1283962528	missense variant	-	NC_000002.12:g.199348810T>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn355Thr	rs1283962528	missense variant	-	NC_000002.12:g.199348810T>G	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser357Phe	rs1409295633	missense variant	-	NC_000002.12:g.199348804G>A	gnomAD
SATB2	Q9UPW6	p.Val358Leu	rs765504446	missense variant	-	NC_000002.12:g.199348802C>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val358Met	rs765504446	missense variant	-	NC_000002.12:g.199348802C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro362Ala	rs369487539	missense variant	-	NC_000002.12:g.199348790G>C	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asp370Glu	rs1183863165	missense variant	-	NC_000002.12:g.199348764A>T	gnomAD
SATB2	Q9UPW6	p.Ser378Ter	RCV000209866	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348742_199348743AC[2]	ClinVar
SATB2	Q9UPW6	p.Val381Gly	RCV000708553	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348732A>C	ClinVar
SATB2	Q9UPW6	p.Arg389Cys	RCV000623230	missense variant	Inborn genetic diseases	NC_000002.12:g.199348709G>A	ClinVar
SATB2	Q9UPW6	p.Arg389His	rs1247886882	missense variant	-	NC_000002.12:g.199348708C>T	gnomAD
SATB2	Q9UPW6	p.Thr390Ile	RCV000199456	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348705G>A	ClinVar
SATB2	Q9UPW6	p.Thr390Ile	rs863224917	missense variant	-	NC_000002.12:g.199348705G>A	-
SATB2	Q9UPW6	p.Gln391Ter	RCV000708554	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199348703G>A	ClinVar
SATB2	Q9UPW6	p.Gly392Glu	RCV000489186	missense variant	-	NC_000002.12:g.199328909C>T	ClinVar
SATB2	Q9UPW6	p.Gly392Glu	rs1085308028	missense variant	-	NC_000002.12:g.199328909C>T	-
SATB2	Q9UPW6	p.Glu396Gln	RCV000708555	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328898C>G	ClinVar
SATB2	Q9UPW6	p.Arg399His	RCV000413401	missense variant	-	NC_000002.12:g.199328888C>T	ClinVar
SATB2	Q9UPW6	p.Arg399His	rs1057518190	missense variant	-	NC_000002.12:g.199328888C>T	-
SATB2	Q9UPW6	p.Arg399Ter	RCV000624362	frameshift	Inborn genetic diseases	NC_000002.12:g.199328888del	ClinVar
SATB2	Q9UPW6	p.Arg399His	RCV000824998	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328888C>T	ClinVar
SATB2	Q9UPW6	p.Lys400Glu	RCV000415356	missense variant	-	NC_000002.12:g.199328886T>C	ClinVar
SATB2	Q9UPW6	p.Lys400Glu	rs1057519013	missense variant	-	NC_000002.12:g.199328886T>C	-
SATB2	Q9UPW6	p.Pro404Ser	rs1193806941	missense variant	-	NC_000002.12:g.199328874G>A	gnomAD
SATB2	Q9UPW6	p.Pro404His	rs766601179	missense variant	-	NC_000002.12:g.199328873G>T	ExAC
SATB2	Q9UPW6	p.Arg405Trp	rs1432580321	missense variant	-	NC_000002.12:g.199328871G>A	gnomAD
SATB2	Q9UPW6	p.Arg405Gln	rs756117282	missense variant	-	NC_000002.12:g.199328870C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr406Ile	rs1187345550	missense variant	-	NC_000002.12:g.199328867G>A	TOPMed
SATB2	Q9UPW6	p.Val413Ile	rs1171330843	missense variant	-	NC_000002.12:g.199328847C>T	TOPMed
SATB2	Q9UPW6	p.Arg416Lys	rs1341868380	missense variant	-	NC_000002.12:g.199328837C>T	gnomAD
SATB2	Q9UPW6	p.Met418Arg	RCV000623479	missense variant	Inborn genetic diseases	NC_000002.12:g.199328831A>C	ClinVar
SATB2	Q9UPW6	p.Met418Arg	rs1553547885	missense variant	-	NC_000002.12:g.199328831A>C	-
SATB2	Q9UPW6	p.Leu424Val	rs1375969185	missense variant	-	NC_000002.12:g.199328814G>C	TOPMed
SATB2	Q9UPW6	p.Pro425Ser	rs762673534	missense variant	-	NC_000002.12:g.199328811G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu426Asp	rs775219160	missense variant	-	NC_000002.12:g.199328806T>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Val427Leu	rs1306994967	missense variant	-	NC_000002.12:g.199328805C>A	gnomAD
SATB2	Q9UPW6	p.Arg429Ter	RCV000307104	nonsense	-	NC_000002.12:g.199328799G>A	ClinVar
SATB2	Q9UPW6	p.Arg429Ter	RCV000763469	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328799G>A	ClinVar
SATB2	Q9UPW6	p.Arg429Ter	rs886041847	stop gained	-	NC_000002.12:g.199328799G>A	TOPMed
SATB2	Q9UPW6	p.Arg429Gln	rs886041516	missense variant	-	NC_000002.12:g.199328798C>T	-
SATB2	Q9UPW6	p.Arg429Gln	RCV000300452	missense variant	-	NC_000002.12:g.199328798C>T	ClinVar
SATB2	Q9UPW6	p.Arg429Gln	RCV000708556	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328798C>T	ClinVar
SATB2	Q9UPW6	p.Arg431Cys	rs769604856	missense variant	-	NC_000002.12:g.199328793G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg431Leu	rs745320639	missense variant	-	NC_000002.12:g.199328792C>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg431His	rs745320639	missense variant	-	NC_000002.12:g.199328792C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg439Trp	rs1480791365	missense variant	-	NC_000002.12:g.199328769G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg439Ter	RCV000715123	frameshift	History of neurodevelopmental disorder	NC_000002.12:g.199328773_199328776dup	ClinVar
SATB2	Q9UPW6	p.Ser440Asn	rs1251222127	missense variant	-	NC_000002.12:g.199328765C>T	gnomAD
SATB2	Q9UPW6	p.Met441Val	rs926443498	missense variant	-	NC_000002.12:g.199328763T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Met441Thr	rs1294387707	missense variant	-	NC_000002.12:g.199328762A>G	TOPMed
SATB2	Q9UPW6	p.Pro443Thr	rs748680983	missense variant	-	NC_000002.12:g.199328757G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Asn444Ser	rs779346411	missense variant	-	NC_000002.12:g.199328753T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met447Thr	rs749656722	missense variant	-	NC_000002.12:g.199328744A>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Met447Val	rs1265520683	missense variant	-	NC_000002.12:g.199328745T>C	gnomAD
SATB2	Q9UPW6	p.Ser449Cys	rs1323623166	missense variant	-	NC_000002.12:g.199328738G>C	gnomAD
SATB2	Q9UPW6	p.Ser450Leu	rs1278503270	missense variant	-	NC_000002.12:g.199328735G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala451Val	rs1210717946	missense variant	-	NC_000002.12:g.199328732G>A	TOPMed
SATB2	Q9UPW6	p.Pro455Ser	rs1235823852	missense variant	-	NC_000002.12:g.199328721G>A	TOPMed
SATB2	Q9UPW6	p.Arg459Ter	RCV000625170	nonsense	Cleft palate, isolated (CPI)	NC_000002.12:g.199328709G>A	ClinVar
SATB2	Q9UPW6	p.Arg459Ter	RCV000680089	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199328709G>A	ClinVar
SATB2	Q9UPW6	p.Arg459Ter	RCV000719613	nonsense	History of neurodevelopmental disorder	NC_000002.12:g.199328709G>A	ClinVar
SATB2	Q9UPW6	p.Arg459Ter	rs1553547838	stop gained	-	NC_000002.12:g.199328709G>A	-
SATB2	Q9UPW6	p.Thr460Asn	rs1329250891	missense variant	-	NC_000002.12:g.199328705G>T	gnomAD
SATB2	Q9UPW6	p.Thr460Ala	rs756308951	missense variant	-	NC_000002.12:g.199328706T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro461Ala	rs1451676503	missense variant	-	NC_000002.12:g.199328703G>C	gnomAD
SATB2	Q9UPW6	p.Ala463Val	rs1024314266	missense variant	-	NC_000002.12:g.199323957G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Thr465Ter	RCV000599501	frameshift	-	NC_000002.12:g.199323955dup	ClinVar
SATB2	Q9UPW6	p.Ser466Leu	rs780366664	missense variant	-	NC_000002.12:g.199323948G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser466Ala	rs1402503767	missense variant	-	NC_000002.12:g.199323949A>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser466Thr	rs1402503767	missense variant	-	NC_000002.12:g.199323949A>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro468Gln	rs746076990	missense variant	-	NC_000002.12:g.199323942G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro468Leu	rs746076990	missense variant	-	NC_000002.12:g.199323942G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro468Thr	rs770212471	missense variant	-	NC_000002.12:g.199323943G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Thr470Ile	rs777720531	missense variant	-	NC_000002.12:g.199323936G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Leu472Phe	rs752719791	missense variant	-	NC_000002.12:g.199323931G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ile474Val	rs765116524	missense variant	-	NC_000002.12:g.199323925T>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile474Leu	rs765116524	missense variant	-	NC_000002.12:g.199323925T>G	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val476Met	rs759458466	missense variant	-	NC_000002.12:g.199323919C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Asp477Glu	rs765952558	missense variant	-	NC_000002.12:g.199323914G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala479Thr	rs772617927	missense variant	-	NC_000002.12:g.199323910C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Asn480Ser	rs201864116	missense variant	-	NC_000002.12:g.199323906T>C	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile481Val	RCV000697845	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199323904T>C	ClinVar
SATB2	Q9UPW6	p.Asn482Ser	rs1302645769	missense variant	-	NC_000002.12:g.199323900T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile483Val	rs1367720345	missense variant	-	NC_000002.12:g.199323898T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile487Val	rs763448261	missense variant	-	NC_000002.12:g.199323886T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu490Gly	rs781440499	missense variant	-	NC_000002.12:g.199323876T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu490Lys	rs746239023	missense variant	-	NC_000002.12:g.199323877C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu494Val	rs1057524205	missense variant	-	NC_000002.12:g.199323864T>A	-
SATB2	Q9UPW6	p.Glu494Val	RCV000422578	missense variant	-	NC_000002.12:g.199323864T>A	ClinVar
SATB2	Q9UPW6	p.Lys499Ter	rs878853163	stop gained	-	NC_000002.12:g.199323850T>A	TOPMed
SATB2	Q9UPW6	p.Lys499Glu	rs878853163	missense variant	-	NC_000002.12:g.199323850T>C	TOPMed
SATB2	Q9UPW6	p.Lys499Ter	RCV000224980	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199323850T>A	ClinVar
SATB2	Q9UPW6	p.Phe505Ter	RCV000255520	frameshift	-	NC_000002.12:g.199323832del	ClinVar
SATB2	Q9UPW6	p.Ala506Ter	RCV000521883	frameshift	-	NC_000002.12:g.199323829_199323830insT	ClinVar
SATB2	Q9UPW6	p.Gly515Ser	rs1553544187	missense variant	-	NC_000002.12:g.199308957C>T	-
SATB2	Q9UPW6	p.Gly515Ser	RCV000656510	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308957C>T	ClinVar
SATB2	Q9UPW6	p.Arg522Ser	rs1223371144	missense variant	-	NC_000002.12:g.199308936G>T	gnomAD
SATB2	Q9UPW6	p.Lys524Met	rs1371458987	missense variant	-	NC_000002.12:g.199308929T>A	gnomAD
SATB2	Q9UPW6	p.Ser528Gly	RCV000717957	missense variant	History of neurodevelopmental disorder	NC_000002.12:g.199308918T>C	ClinVar
SATB2	Q9UPW6	p.Ser528Gly	rs1490098266	missense variant	-	NC_000002.12:g.199308918T>C	TOPMed
SATB2	Q9UPW6	p.Asn531Ter	RCV000533352	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308911dup	ClinVar
SATB2	Q9UPW6	p.Cys539Tyr	rs755996970	missense variant	-	NC_000002.12:g.199308884C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Thr540Ile	rs749986143	missense variant	-	NC_000002.12:g.199308881G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg542Cys	rs767163210	missense variant	-	NC_000002.12:g.199308876G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg543Ter	RCV000496200	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308873del	ClinVar
SATB2	Q9UPW6	p.Arg543Cys	rs756719862	missense variant	-	NC_000002.12:g.199308873G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg543His	rs1178625025	missense variant	-	NC_000002.12:g.199308872C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro548Ser	rs1411889903	missense variant	-	NC_000002.12:g.199308858G>A	gnomAD
SATB2	Q9UPW6	p.Arg552Ter	RCV000626779	frameshift	Global developmental delay (DD)	NC_000002.12:g.199308846_199308847TC[1]	ClinVar
SATB2	Q9UPW6	p.Asp553Gly	rs1407936376	missense variant	-	NC_000002.12:g.199308842T>C	TOPMed
SATB2	Q9UPW6	p.Val554Ile	RCV000704967	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308840C>T	ClinVar
SATB2	Q9UPW6	p.Val554Ile	rs1201673032	missense variant	-	NC_000002.12:g.199308840C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile555Val	rs1462605845	missense variant	-	NC_000002.12:g.199308837T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu557Asp	rs377609161	missense variant	-	NC_000002.12:g.199308829C>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu566Lys	RCV000656509	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199308804C>T	ClinVar
SATB2	Q9UPW6	p.Arg567Cys	rs777257792	missense variant	-	NC_000002.12:g.199308801G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Met568Leu	rs761112090	missense variant	-	NC_000002.12:g.199308798T>G	ExAC,gnomAD
SATB2	Q9UPW6	p.Met568Ile	rs1042085577	missense variant	-	NC_000002.12:g.199308796C>T	TOPMed,gnomAD
SATB2	Q9UPW6	p.Met568Leu	rs761112090	missense variant	-	NC_000002.12:g.199308798T>A	ExAC,gnomAD
SATB2	Q9UPW6	p.His570Leu	rs773498253	missense variant	-	NC_000002.12:g.199308791T>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Val571Met	rs188013011	missense variant	-	NC_000002.12:g.199308789C>T	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Val571Leu	rs188013011	missense variant	-	NC_000002.12:g.199308789C>A	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Leu574His	rs774550702	missense variant	-	NC_000002.12:g.199308779A>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro575Ser	rs1010344792	missense variant	-	NC_000002.12:g.199308777G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro576His	rs532416594	missense variant	-	NC_000002.12:g.199308773G>T	1000Genomes,TOPMed
SATB2	Q9UPW6	p.Pro576Thr	rs749170294	missense variant	-	NC_000002.12:g.199308774G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Pro576Leu	rs532416594	missense variant	-	NC_000002.12:g.199308773G>A	1000Genomes,TOPMed
SATB2	Q9UPW6	p.Pro576Ser	rs749170294	missense variant	-	NC_000002.12:g.199308774G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu577Ter	RCV000623085	frameshift	Inborn genetic diseases	NC_000002.12:g.199308770_199308771del	ClinVar
SATB2	Q9UPW6	p.Pro578Leu	rs1160832366	missense variant	-	NC_000002.12:g.199308767G>A	gnomAD
SATB2	Q9UPW6	p.Pro578Thr	rs780054309	missense variant	-	NC_000002.12:g.199308768G>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.His583Arg	rs924452849	missense variant	-	NC_000002.12:g.199272665T>C	TOPMed
SATB2	Q9UPW6	p.Gln586Ter	RCV000760677	nonsense	-	NC_000002.12:g.199272657G>A	ClinVar
SATB2	Q9UPW6	p.Ser593Asn	rs751007411	missense variant	-	NC_000002.12:g.199272635C>T	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser593Gly	rs1168221672	missense variant	-	NC_000002.12:g.199272636T>C	TOPMed
SATB2	Q9UPW6	p.Ala600Val	rs751765693	missense variant	-	NC_000002.12:g.199272614G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro602His	rs533594267	missense variant	-	NC_000002.12:g.199272608G>T	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro602Thr	rs1401231161	missense variant	-	NC_000002.12:g.199272609G>T	TOPMed
SATB2	Q9UPW6	p.Pro602Leu	rs533594267	missense variant	-	NC_000002.12:g.199272608G>A	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro603Ser	rs1266946747	missense variant	-	NC_000002.12:g.199272606G>A	gnomAD
SATB2	Q9UPW6	p.Pro606Ala	rs1452420369	missense variant	-	NC_000002.12:g.199272597G>C	gnomAD
SATB2	Q9UPW6	p.Ser610Gly	rs1048433974	missense variant	-	NC_000002.12:g.199272585T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro615Ser	rs1394335364	missense variant	-	NC_000002.12:g.199272570G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ser617Phe	rs776611711	missense variant	-	NC_000002.12:g.199272563G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Arg618His	rs1223479618	missense variant	-	NC_000002.12:g.199272560C>T	gnomAD
SATB2	Q9UPW6	p.Thr619Ala	rs746809112	missense variant	-	NC_000002.12:g.199272558T>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu643Lys	RCV000520970	missense variant	-	NC_000002.12:g.199272486C>T	ClinVar
SATB2	Q9UPW6	p.Glu643Lys	rs1553538927	missense variant	-	NC_000002.12:g.199272486C>T	-
SATB2	Q9UPW6	p.His646Asp	rs1331951748	missense variant	-	NC_000002.12:g.199272477G>C	gnomAD
SATB2	Q9UPW6	p.Leu648Ter	RCV000413155	frameshift	-	NC_000002.12:g.199272470_199272471AG[1]	ClinVar
SATB2	Q9UPW6	p.Ser649Ter	RCV000708557	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272470dup	ClinVar
SATB2	Q9UPW6	p.Ser649Leu	rs746319722	missense variant	-	NC_000002.12:g.199272467G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser649Leu	RCV000658445	missense variant	-	NC_000002.12:g.199272467G>A	ClinVar
SATB2	Q9UPW6	p.Pro655Leu	RCV000502290	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272449G>A	ClinVar
SATB2	Q9UPW6	p.Pro655Leu	rs1553538919	missense variant	-	NC_000002.12:g.199272449G>A	-
SATB2	Q9UPW6	p.Ile659Val	rs1478232447	missense variant	-	NC_000002.12:g.199272438T>C	TOPMed
SATB2	Q9UPW6	p.Gln664His	rs144750620	missense variant	-	NC_000002.12:g.199272421C>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln664Ter	rs1553538917	stop gained	-	NC_000002.12:g.199272423G>A	-
SATB2	Q9UPW6	p.Gln664Ter	RCV000626778	nonsense	Global developmental delay (DD)	NC_000002.12:g.199272423G>A	ClinVar
SATB2	Q9UPW6	p.Arg667Trp	rs751977362	missense variant	-	NC_000002.12:g.199272414G>A	ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Arg667Leu	RCV000704733	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272413C>A	ClinVar
SATB2	Q9UPW6	p.Val670Met	rs758618655	missense variant	-	NC_000002.12:g.199272405C>T	ExAC
SATB2	Q9UPW6	p.His673Ter	RCV000708558	frameshift	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272395dup	ClinVar
SATB2	Q9UPW6	p.Gly674Arg	rs765349371	missense variant	-	NC_000002.12:g.199272393C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Lys675Thr	rs1397644010	missense variant	-	NC_000002.12:g.199272389T>G	TOPMed
SATB2	Q9UPW6	p.Leu676Met	rs138968934	missense variant	-	NC_000002.12:g.199272387G>T	ESP,TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys677Asn	rs1260665634	missense variant	-	NC_000002.12:g.199272382T>G	gnomAD
SATB2	Q9UPW6	p.Glu678Asp	rs147191297	missense variant	-	NC_000002.12:g.199272379C>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu678Asp	rs147191297	missense variant	-	NC_000002.12:g.199272379C>A	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.His679Arg	rs1345171175	missense variant	-	NC_000002.12:g.199272377T>C	gnomAD
SATB2	Q9UPW6	p.Leu680Pro	rs1437550190	missense variant	-	NC_000002.12:g.199272374A>G	TOPMed
SATB2	Q9UPW6	p.Leu680Val	rs766332901	missense variant	-	NC_000002.12:g.199272375G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala683Thr	RCV000646087	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272366C>T	ClinVar
SATB2	Q9UPW6	p.Ala683Val	rs1451743452	missense variant	-	NC_000002.12:g.199272365G>A	TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala683Thr	rs372032415	missense variant	-	NC_000002.12:g.199272366C>T	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Val684Ter	RCV000599133	frameshift	-	NC_000002.12:g.199272364dup	ClinVar
SATB2	Q9UPW6	p.Val686Met	rs773932097	missense variant	-	NC_000002.12:g.199272357C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu692Ter	RCV000708559	nonsense	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272339C>A	ClinVar
SATB2	Q9UPW6	p.Glu699Gly	rs1197844648	missense variant	-	NC_000002.12:g.199272317T>C	TOPMed
SATB2	Q9UPW6	p.Asp702Asn	rs1443276216	missense variant	-	NC_000002.12:g.199272309C>T	gnomAD
SATB2	Q9UPW6	p.Ser703Arg	rs148851926	missense variant	-	NC_000002.12:g.199272304G>T	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Glu704Lys	rs747513035	missense variant	-	NC_000002.12:g.199272303C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Glu705Gln	rs200723657	missense variant	-	NC_000002.12:g.199272300C>G	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Gly706Ser	rs1553538875	missense variant	-	NC_000002.12:g.199272297C>T	-
SATB2	Q9UPW6	p.Gly706Ser	RCV000646086	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272297C>T	ClinVar
SATB2	Q9UPW6	p.Ser707Tyr	rs752910885	missense variant	-	NC_000002.12:g.199272293G>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Ser707Cys	rs752910885	missense variant	-	NC_000002.12:g.199272293G>C	ExAC,gnomAD
SATB2	Q9UPW6	p.Met710Ile	rs1286415699	missense variant	-	NC_000002.12:g.199272283C>T	gnomAD
SATB2	Q9UPW6	p.Lys712Glu	rs146644021	missense variant	-	NC_000002.12:g.199272279T>C	ESP,gnomAD
SATB2	Q9UPW6	p.Lys712Arg	rs999561200	missense variant	-	NC_000002.12:g.199272278T>C	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys712Gln	rs146644021	missense variant	-	NC_000002.12:g.199272279T>G	ESP,gnomAD
SATB2	Q9UPW6	p.Ala720Ser	rs531933724	missense variant	-	NC_000002.12:g.199272255C>A	1000Genomes,ExAC,gnomAD
SATB2	Q9UPW6	p.Ser723Asn	rs750394257	missense variant	-	NC_000002.12:g.199272245C>T	ExAC,gnomAD
SATB2	Q9UPW6	p.Lys724Asn	rs915648697	missense variant	-	NC_000002.12:g.199272241C>G	TOPMed,gnomAD
SATB2	Q9UPW6	p.Lys724Glu	rs1421713467	missense variant	-	NC_000002.12:g.199272243T>C	gnomAD
SATB2	Q9UPW6	p.Lys724Thr	rs1361438994	missense variant	-	NC_000002.12:g.199272242T>G	gnomAD
SATB2	Q9UPW6	p.Ala725Val	rs767329844	missense variant	-	NC_000002.12:g.199272239G>A	ExAC,gnomAD
SATB2	Q9UPW6	p.Ala725Thr	rs1423097949	missense variant	-	NC_000002.12:g.199272240C>T	gnomAD
SATB2	Q9UPW6	p.Ala726Thr	RCV000540212	missense variant	Chromosome 2q32-q33 deletion syndrome (GLASS)	NC_000002.12:g.199272237C>T	ClinVar
SATB2	Q9UPW6	p.Ala726Thr	rs551624897	missense variant	-	NC_000002.12:g.199272237C>T	1000Genomes,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Pro727Ser	rs1392711751	missense variant	-	NC_000002.12:g.199272234G>A	TOPMed
SATB2	Q9UPW6	p.Pro727Arg	rs1240942211	missense variant	-	NC_000002.12:g.199272233G>C	gnomAD
SATB2	Q9UPW6	p.Ala728Pro	rs377368865	missense variant	-	NC_000002.12:g.199272231C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ala728Gly	rs140532313	missense variant	-	NC_000002.12:g.199272230G>C	ESP,ExAC,TOPMed
SATB2	Q9UPW6	p.Glu729Lys	rs1489038642	missense variant	-	NC_000002.12:g.199272228C>T	gnomAD
SATB2	Q9UPW6	p.Ile730Thr	rs373319001	missense variant	-	NC_000002.12:g.199272224A>G	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Ile730Asn	rs373319001	missense variant	-	NC_000002.12:g.199272224A>T	ESP,ExAC,TOPMed,gnomAD
SATB2	Q9UPW6	p.Gln732His	rs778160560	missense variant	-	NC_000002.12:g.199272217C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1Thr	RCV000227003	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133457A>G	ClinVar
DICER1	Q9UPY3	p.Met1Thr	RCV000562389	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133457A>G	ClinVar
DICER1	Q9UPY3	p.Lys2Asn	rs1416298002	missense variant	-	NC_000014.9:g.95133453T>G	gnomAD
DICER1	Q9UPY3	p.Pro4Ser	rs772433602	missense variant	-	NC_000014.9:g.95133449G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu6Phe	rs777350127	missense variant	-	NC_000014.9:g.95133441C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln7Arg	RCV000206043	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133439T>C	ClinVar
DICER1	Q9UPY3	p.Gln7Arg	rs117358479	missense variant	-	NC_000014.9:g.95133439T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro8Ser	rs748788519	missense variant	-	NC_000014.9:g.95133437G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu9Phe	rs1482976224	missense variant	-	NC_000014.9:g.95133434G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu9Phe	RCV000654432	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133434G>A	ClinVar
DICER1	Q9UPY3	p.Gly13Asp	RCV000476538	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133421C>T	ClinVar
DICER1	Q9UPY3	p.Gly13Asp	rs1060503610	missense variant	-	NC_000014.9:g.95133421C>T	-
DICER1	Q9UPY3	p.Leu14Met	rs779753946	missense variant	-	NC_000014.9:g.95133419G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln15Arg	rs1555376589	missense variant	-	NC_000014.9:g.95133415T>C	-
DICER1	Q9UPY3	p.Gln15Arg	RCV000654403	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133415T>C	ClinVar
DICER1	Q9UPY3	p.Met17Leu	rs1555376587	missense variant	-	NC_000014.9:g.95133410T>G	-
DICER1	Q9UPY3	p.Met17Leu	RCV000654398	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133410T>G	ClinVar
DICER1	Q9UPY3	p.Pro19Thr	RCV000468835	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133404G>T	ClinVar
DICER1	Q9UPY3	p.Pro19Leu	RCV000120632	missense variant	-	NC_000014.9:g.95133403G>A	ClinVar
DICER1	Q9UPY3	p.Pro19Leu	rs587778227	missense variant	-	NC_000014.9:g.95133403G>A	gnomAD
DICER1	Q9UPY3	p.Pro19Thr	rs1060503638	missense variant	-	NC_000014.9:g.95133404G>T	-
DICER1	Q9UPY3	p.Ala20Val	RCV000120633	missense variant	-	NC_000014.9:g.95133400G>A	ClinVar
DICER1	Q9UPY3	p.Ala20Val	rs147660793	missense variant	-	NC_000014.9:g.95133400G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala20Thr	rs1555376579	missense variant	-	NC_000014.9:g.95133401C>T	-
DICER1	Q9UPY3	p.Ala20Thr	RCV000654440	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133401C>T	ClinVar
DICER1	Q9UPY3	p.Ser21Phe	rs1289924579	missense variant	-	NC_000014.9:g.95133397G>A	gnomAD
DICER1	Q9UPY3	p.Ser22Leu	RCV000461365	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133394G>A	ClinVar
DICER1	Q9UPY3	p.Ser22Leu	rs1060503626	missense variant	-	NC_000014.9:g.95133394G>A	gnomAD
DICER1	Q9UPY3	p.Pro23Ser	rs1555376567	missense variant	-	NC_000014.9:g.95133392G>A	-
DICER1	Q9UPY3	p.Pro23Ser	RCV000531961	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133392G>A	ClinVar
DICER1	Q9UPY3	p.Met24Val	RCV000226545	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133389T>C	ClinVar
DICER1	Q9UPY3	p.Met24Ile	RCV000804944	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133387C>T	ClinVar
DICER1	Q9UPY3	p.Met24Ile	RCV000572085	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133387C>T	ClinVar
DICER1	Q9UPY3	p.Met24Thr	rs1349780844	missense variant	-	NC_000014.9:g.95133388A>G	gnomAD
DICER1	Q9UPY3	p.Met24Ile	rs751520020	missense variant	-	NC_000014.9:g.95133387C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Met24Ile	rs751520020	missense variant	-	NC_000014.9:g.95133387C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Met24Val	RCV000563130	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133389T>C	ClinVar
DICER1	Q9UPY3	p.Met24Val	rs754439528	missense variant	-	NC_000014.9:g.95133389T>C	TOPMed
DICER1	Q9UPY3	p.Gly25Asp	RCV000561019	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133385C>T	ClinVar
DICER1	Q9UPY3	p.Gly25Asp	rs1555376566	missense variant	-	NC_000014.9:g.95133385C>T	-
DICER1	Q9UPY3	p.Pro26Leu	RCV000565379	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	RCV000537230	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	RCV000761003	missense variant	Medulloblastoma (MDB)	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	rs201358110	missense variant	-	NC_000014.9:g.95133382G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Phe27Leu	RCV000654388	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133378G>C	ClinVar
DICER1	Q9UPY3	p.Phe27Leu	rs1555376563	missense variant	-	NC_000014.9:g.95133378G>C	-
DICER1	Q9UPY3	p.Phe28Cys	rs61729796	missense variant	-	NC_000014.9:g.95133376A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe28Ser	RCV000460921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133376A>G	ClinVar
DICER1	Q9UPY3	p.Phe28Ser	rs61729796	missense variant	-	NC_000014.9:g.95133376A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe28Val	rs1333617601	missense variant	-	NC_000014.9:g.95133377A>C	gnomAD
DICER1	Q9UPY3	p.Gly29Ala	rs766491650	missense variant	-	NC_000014.9:g.95133373C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Trp32Arg	COSM959284	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95133365A>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Gln33His	rs773456851	missense variant	-	NC_000014.9:g.95133360T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln34Ter	RCV000654373	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133359G>A	ClinVar
DICER1	Q9UPY3	p.Gln34Ter	rs1555376548	stop gained	-	NC_000014.9:g.95133359G>A	-
DICER1	Q9UPY3	p.Ile37Phe	RCV000471095	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133350T>A	ClinVar
DICER1	Q9UPY3	p.Ile37Phe	rs772381832	missense variant	-	NC_000014.9:g.95133350T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp39Gly	rs748564911	missense variant	-	NC_000014.9:g.95133343T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn40Asp	rs1482582825	missense variant	-	NC_000014.9:g.95133341T>C	gnomAD
DICER1	Q9UPY3	p.Thr43Arg	RCV000497812	missense variant	-	NC_000014.9:g.95133331G>C	ClinVar
DICER1	Q9UPY3	p.Thr43Met	RCV000571554	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133331G>A	ClinVar
DICER1	Q9UPY3	p.Thr43Met	RCV000474678	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133331G>A	ClinVar
DICER1	Q9UPY3	p.Thr43Met	rs367797765	missense variant	-	NC_000014.9:g.95133331G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr43Arg	rs367797765	missense variant	-	NC_000014.9:g.95133331G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg45Lys	COSM1371858	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95133325C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Lys46Gln	RCV000699235	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133323T>G	ClinVar
DICER1	Q9UPY3	p.Val49Ala	RCV000456605	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132676A>G	ClinVar
DICER1	Q9UPY3	p.Val49Leu	RCV000563819	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132677C>G	ClinVar
DICER1	Q9UPY3	p.Val49Ala	rs1060503624	missense variant	-	NC_000014.9:g.95132676A>G	-
DICER1	Q9UPY3	p.Val49Leu	rs1555376413	missense variant	-	NC_000014.9:g.95132677C>G	-
DICER1	Q9UPY3	p.Ala54Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95132662C>T	NCI-TCGA
DICER1	Q9UPY3	p.Ala55Pro	rs769164427	missense variant	-	NC_000014.9:g.95132659C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala55Thr	rs769164427	missense variant	-	NC_000014.9:g.95132659C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala55Thr	RCV000539270	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132659C>T	ClinVar
DICER1	Q9UPY3	p.Asp57His	rs570871959	missense variant	-	NC_000014.9:g.95132653C>G	1000Genomes,ExAC
DICER1	Q9UPY3	p.Asp57Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95132653C>T	NCI-TCGA
DICER1	Q9UPY3	p.His58Asp	RCV000552718	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132650G>C	ClinVar
DICER1	Q9UPY3	p.His58Asp	rs1555376409	missense variant	-	NC_000014.9:g.95132650G>C	-
DICER1	Q9UPY3	p.Asn59Asp	rs1368593353	missense variant	-	NC_000014.9:g.95132647T>C	gnomAD
DICER1	Q9UPY3	p.Thr60Ile	RCV000230149	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132643G>A	ClinVar
DICER1	Q9UPY3	p.Thr60Ile	RCV000567350	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132643G>A	ClinVar
DICER1	Q9UPY3	p.Thr60Ile	rs587778228	missense variant	-	NC_000014.9:g.95132643G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile61Val	RCV000458877	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132641T>C	ClinVar
DICER1	Q9UPY3	p.Ile61Val	rs1060503646	missense variant	-	NC_000014.9:g.95132641T>C	-
DICER1	Q9UPY3	p.Val62Ile	RCV000654380	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132638C>T	ClinVar
DICER1	Q9UPY3	p.Val62Ile	rs746671039	missense variant	-	NC_000014.9:g.95132638C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu64Phe	RCV000531832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132630T>A	ClinVar
DICER1	Q9UPY3	p.Leu64Phe	rs1231822339	missense variant	-	NC_000014.9:g.95132630T>A	TOPMed
DICER1	Q9UPY3	p.Thr66Ala	RCV000654470	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132626T>C	ClinVar
DICER1	Q9UPY3	p.Thr66Ile	rs777362732	missense variant	-	NC_000014.9:g.95132625G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr66Ala	rs1555376402	missense variant	-	NC_000014.9:g.95132626T>C	-
DICER1	Q9UPY3	p.Thr71Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95132610G>A	NCI-TCGA
DICER1	Q9UPY3	p.Thr71Arg	rs376657431	missense variant	-	NC_000014.9:g.95132610G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile73Thr	rs1312551730	missense variant	-	NC_000014.9:g.95132604A>G	TOPMed
DICER1	Q9UPY3	p.Ala74Leu	RCV000690532	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132601_95132602delinsAA	ClinVar
DICER1	Q9UPY3	p.Ala74Ser	rs202181696	missense variant	-	NC_000014.9:g.95132602C>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala74Val	rs200331768	missense variant	-	NC_000014.9:g.95132601G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val75Leu	rs899822269	missense variant	-	NC_000014.9:g.95132599C>A	TOPMed
DICER1	Q9UPY3	p.Val75Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95132598A>G	NCI-TCGA
DICER1	Q9UPY3	p.Thr78Ala	RCV000696264	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132590T>C	ClinVar
DICER1	Q9UPY3	p.Glu80Val	rs1249513421	missense variant	-	NC_000014.9:g.95132583T>A	TOPMed
DICER1	Q9UPY3	p.Ser82Tyr	rs751813700	missense variant	-	NC_000014.9:g.95132577G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser82IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95132576_95132579GGAC>-	NCI-TCGA
DICER1	Q9UPY3	p.Tyr83Cys	RCV000574980	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132574T>C	ClinVar
DICER1	Q9UPY3	p.Tyr83Cys	rs373646414	missense variant	-	NC_000014.9:g.95132574T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr83Cys	RCV000231291	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132574T>C	ClinVar
DICER1	Q9UPY3	p.Ile85Met	RCV000573094	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132567G>C	ClinVar
DICER1	Q9UPY3	p.Ile85Met	rs763422772	missense variant	-	NC_000014.9:g.95132567G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg86Gly	RCV000569742	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132566T>C	ClinVar
DICER1	Q9UPY3	p.Arg86Ter	RCV000534037	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132566del	ClinVar
DICER1	Q9UPY3	p.Arg86Gly	rs1555376374	missense variant	-	NC_000014.9:g.95132566T>C	-
DICER1	Q9UPY3	p.Asp88Val	rs775828379	missense variant	-	NC_000014.9:g.95132559T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp88Val	RCV000472522	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132559T>A	ClinVar
DICER1	Q9UPY3	p.Arg91Lys	RCV000225966	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132550C>T	ClinVar
DICER1	Q9UPY3	p.Arg91Lys	rs878855252	missense variant	-	NC_000014.9:g.95132550C>T	gnomAD
DICER1	Q9UPY3	p.Gly93Glu	RCV000465833	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132544C>T	ClinVar
DICER1	Q9UPY3	p.Gly93Glu	RCV000564923	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132544C>T	ClinVar
DICER1	Q9UPY3	p.Gly93Glu	rs776219930	missense variant	-	NC_000014.9:g.95132544C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg95Ter	RCV000558690	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132542_95132543dup	ClinVar
DICER1	Q9UPY3	p.Thr96Met	rs770567567	missense variant	-	NC_000014.9:g.95132535G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val97Ala	RCV000464977	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132532A>G	ClinVar
DICER1	Q9UPY3	p.Val97Ala	rs1060503582	missense variant	-	NC_000014.9:g.95132532A>G	-
DICER1	Q9UPY3	p.Val100Gly	rs1390907504	missense variant	-	NC_000014.9:g.95132523A>C	TOPMed
DICER1	Q9UPY3	p.Ala107Val	RCV000465807	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131627G>A	ClinVar
DICER1	Q9UPY3	p.Ala107Val	rs1060503655	missense variant	-	NC_000014.9:g.95131627G>A	-
DICER1	Q9UPY3	p.Gln108Arg	RCV000688162	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131624T>C	ClinVar
DICER1	Q9UPY3	p.Gln108Glu	COSM5576192	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95131625G>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Val110Met	rs1555376190	missense variant	-	NC_000014.9:g.95131619C>T	-
DICER1	Q9UPY3	p.Val110Met	RCV000654424	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131619C>T	ClinVar
DICER1	Q9UPY3	p.Ala112Val	RCV000542109	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131612G>A	ClinVar
DICER1	Q9UPY3	p.Ala112Val	rs1555376185	missense variant	-	NC_000014.9:g.95131612G>A	-
DICER1	Q9UPY3	p.Asp118Val	rs1442952372	missense variant	-	NC_000014.9:g.95131594T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp118Asn	rs557182925	missense variant	-	NC_000014.9:g.95131595C>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp118Ala	rs1442952372	missense variant	-	NC_000014.9:g.95131594T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu119Phe	RCV000457510	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131592G>A	ClinVar
DICER1	Q9UPY3	p.Leu119His	rs760049904	missense variant	-	NC_000014.9:g.95131591A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu119Phe	rs1060503661	missense variant	-	NC_000014.9:g.95131592G>A	-
DICER1	Q9UPY3	p.Lys120Met	RCV000474331	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	RCV000765199	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	RCV000566901	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	rs1060503608	missense variant	-	NC_000014.9:g.95131588T>A	gnomAD
DICER1	Q9UPY3	p.Glu123Ter	rs1482258814	stop gained	-	NC_000014.9:g.95131580C>A	gnomAD
DICER1	Q9UPY3	p.Tyr124Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95131576T>C	NCI-TCGA
DICER1	Q9UPY3	p.Ser125Leu	RCV000654365	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131573G>A	ClinVar
DICER1	Q9UPY3	p.Ser125Leu	rs377669634	missense variant	-	NC_000014.9:g.95131573G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn126Asp	RCV000568690	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131571T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Asp	RCV000803170	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131571T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Ser	RCV000464564	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131570T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Ser	rs1060503593	missense variant	-	NC_000014.9:g.95131570T>C	-
DICER1	Q9UPY3	p.Asn126Asp	rs373734886	missense variant	-	NC_000014.9:g.95131571T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu127Val	RCV000559895	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131568G>C	ClinVar
DICER1	Q9UPY3	p.Leu127Val	RCV000567723	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131568G>C	ClinVar
DICER1	Q9UPY3	p.Leu127Val	rs560739585	missense variant	-	NC_000014.9:g.95131568G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu128Ala	RCV000702359	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131564T>G	ClinVar
DICER1	Q9UPY3	p.Glu128Ala	rs1345117803	missense variant	-	NC_000014.9:g.95131564T>G	TOPMed
DICER1	Q9UPY3	p.Ala131Val	rs774138190	missense variant	-	NC_000014.9:g.95131555G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala131Pro	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95131556C>G	NCI-TCGA
DICER1	Q9UPY3	p.Glu136Ala	RCV000554347	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131540T>G	ClinVar
DICER1	Q9UPY3	p.Glu136Gln	rs768445477	missense variant	-	NC_000014.9:g.95131541C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu136Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95131541C>A	NCI-TCGA
DICER1	Q9UPY3	p.Glu136Ala	rs1037879170	missense variant	-	NC_000014.9:g.95131540T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu141Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95131526C>A	NCI-TCGA
DICER1	Q9UPY3	p.Phe142Leu	rs780014291	missense variant	-	NC_000014.9:g.95131521A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr143Ala	RCV000458595	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131520T>C	ClinVar
DICER1	Q9UPY3	p.Thr143Ala	rs1060503612	missense variant	-	NC_000014.9:g.95131520T>C	gnomAD
DICER1	Q9UPY3	p.Lys144Met	RCV000471774	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131516T>A	ClinVar
DICER1	Q9UPY3	p.Lys144Asn	RCV000654392	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131515C>G	ClinVar
DICER1	Q9UPY3	p.Lys144Asn	rs370784723	missense variant	-	NC_000014.9:g.95131515C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys144Met	rs1060503629	missense variant	-	NC_000014.9:g.95131516T>A	-
DICER1	Q9UPY3	p.His145Arg	rs747179239	missense variant	-	NC_000014.9:g.95131513T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.His145Gln	rs1473045432	missense variant	-	NC_000014.9:g.95131512G>C	gnomAD
DICER1	Q9UPY3	p.Val147Ala	COSM4840308	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95130191A>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Val147Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95130192C>T	NCI-TCGA
DICER1	Q9UPY3	p.Val147Phe	RCV000692554	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130192C>A	ClinVar
DICER1	Q9UPY3	p.Ile149Thr	RCV000463130	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130185A>G	ClinVar
DICER1	Q9UPY3	p.Ile149Thr	rs549001286	missense variant	-	NC_000014.9:g.95130185A>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met150Leu	RCV000809322	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130183T>A	ClinVar
DICER1	Q9UPY3	p.Met150Leu	RCV000568271	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130183T>A	ClinVar
DICER1	Q9UPY3	p.Met150Val	rs1447817443	missense variant	-	NC_000014.9:g.95130183T>C	gnomAD
DICER1	Q9UPY3	p.Met150Leu	rs1447817443	missense variant	-	NC_000014.9:g.95130183T>A	gnomAD
DICER1	Q9UPY3	p.Tyr153Cys	rs769827245	missense variant	-	NC_000014.9:g.95130173T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val154Ter	RCV000524590	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130172dup	ClinVar
DICER1	Q9UPY3	p.Ala155Thr	RCV000227833	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130168C>T	ClinVar
DICER1	Q9UPY3	p.Ala155Thr	rs745802492	missense variant	-	NC_000014.9:g.95130168C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu159Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95130154C>G	NCI-TCGA
DICER1	Q9UPY3	p.Lys160Glu	rs777839118	missense variant	-	NC_000014.9:g.95130153T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn161Asp	rs373532001	missense variant	-	NC_000014.9:g.95130150T>C	ESP,ExAC
DICER1	Q9UPY3	p.Asn161His	rs373532001	missense variant	-	NC_000014.9:g.95130150T>G	ESP,ExAC
DICER1	Q9UPY3	p.Gly162Asp	RCV000494493	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130146C>T	ClinVar
DICER1	Q9UPY3	p.Gly162Asp	rs142815547	missense variant	-	NC_000014.9:g.95130146C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr163Ter	RCV000205672	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130142G>C	ClinVar
DICER1	Q9UPY3	p.Tyr163Asn	rs1274642595	missense variant	-	NC_000014.9:g.95130144A>T	gnomAD
DICER1	Q9UPY3	p.Tyr163Ter	rs864622626	stop gained	-	NC_000014.9:g.95130142G>C	-
DICER1	Q9UPY3	p.Tyr163His	rs1274642595	missense variant	-	NC_000014.9:g.95130144A>G	gnomAD
DICER1	Q9UPY3	p.Ser165Pro	RCV000476646	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130138A>G	ClinVar
DICER1	Q9UPY3	p.Ser165Pro	RCV000568030	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130138A>G	ClinVar
DICER1	Q9UPY3	p.Ser165Pro	rs894664317	missense variant	-	NC_000014.9:g.95130138A>G	TOPMed
DICER1	Q9UPY3	p.Asp175Gly	rs766984054	missense variant	-	NC_000014.9:g.95130107T>C	ExAC
DICER1	Q9UPY3	p.Glu176Val	RCV000654370	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130104T>A	ClinVar
DICER1	Q9UPY3	p.Glu176Val	rs756586319	missense variant	-	NC_000014.9:g.95130104T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu176Lys	rs1177718322	missense variant	-	NC_000014.9:g.95130105C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.His178Leu	rs201239474	missense variant	-	NC_000014.9:g.95130098T>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His178Arg	rs201239474	missense variant	-	NC_000014.9:g.95130098T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala180Gly	rs375454363	missense variant	-	NC_000014.9:g.95130092G>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala180Val	rs375454363	missense variant	-	NC_000014.9:g.95130092G>A	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala180Ter	RCV000555663	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130096del	ClinVar
DICER1	Q9UPY3	p.Ile181Val	rs761253717	missense variant	-	NC_000014.9:g.95130090T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp183Glu	RCV000460261	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130082G>C	ClinVar
DICER1	Q9UPY3	p.Asp183Glu	rs1060503587	missense variant	-	NC_000014.9:g.95130082G>C	-
DICER1	Q9UPY3	p.Pro185Arg	rs1170562259	missense variant	-	NC_000014.9:g.95130077G>C	gnomAD
DICER1	Q9UPY3	p.Arg187Gln	RCV000543718	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130071C>T	ClinVar
DICER1	Q9UPY3	p.Arg187Gly	RCV000654367	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>C	ClinVar
DICER1	Q9UPY3	p.Arg187Pro	rs775207591	missense variant	-	NC_000014.9:g.95130071C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg187Gln	rs775207591	missense variant	-	NC_000014.9:g.95130071C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg187Gly	rs763801533	missense variant	-	NC_000014.9:g.95130072G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg187Ter	RCV000206588	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>A	ClinVar
DICER1	Q9UPY3	p.Arg187Ter	rs763801533	stop gained	-	NC_000014.9:g.95130072G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu188Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95130069C>A	NCI-TCGA
DICER1	Q9UPY3	p.Met190Lys	RCV000568748	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130062A>T	ClinVar
DICER1	Q9UPY3	p.Met190Lys	rs1555375918	missense variant	-	NC_000014.9:g.95130062A>T	-
DICER1	Q9UPY3	p.Met190Val	rs769477041	missense variant	-	NC_000014.9:g.95130063T>C	ExAC
DICER1	Q9UPY3	p.Lys191Arg	rs1162746497	missense variant	-	NC_000014.9:g.95130059T>C	TOPMed
DICER1	Q9UPY3	p.Asn195His	rs770842365	missense variant	-	NC_000014.9:g.95129623T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn195His	RCV000458293	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129623T>G	ClinVar
DICER1	Q9UPY3	p.Pro197Leu	rs1060503642	missense variant	-	NC_000014.9:g.95129616G>A	gnomAD
DICER1	Q9UPY3	p.Pro197Ser	RCV000548749	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129617G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ser	RCV000573122	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129617G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Leu	RCV000472039	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129616G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ala	rs375689793	missense variant	-	NC_000014.9:g.95129617G>C	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro197Ser	rs375689793	missense variant	-	NC_000014.9:g.95129617G>A	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser198Leu	rs1024665554	missense variant	-	NC_000014.9:g.95129613G>A	TOPMed
DICER1	Q9UPY3	p.Arg201Cys	RCV000654448	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129605G>A	ClinVar
DICER1	Q9UPY3	p.Arg201Pro	rs749484792	missense variant	-	NC_000014.9:g.95129604C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201Cys	rs774514314	missense variant	-	NC_000014.9:g.95129605G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg201His	rs749484792	missense variant	-	NC_000014.9:g.95129604C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201Ser	rs774514314	missense variant	-	NC_000014.9:g.95129605G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg201Leu	rs749484792	missense variant	-	NC_000014.9:g.95129604C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser208Phe	rs1424652177	missense variant	-	NC_000014.9:g.95129583G>A	TOPMed
DICER1	Q9UPY3	p.Leu210Ser	RCV000575811	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129577A>G	ClinVar
DICER1	Q9UPY3	p.del210del	RCV000240938	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
DICER1	Q9UPY3	p.Leu210Ter	RCV000240938	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
DICER1	Q9UPY3	p.Leu210Ser	rs886037730	missense variant	-	NC_000014.9:g.95129577A>G	TOPMed
DICER1	Q9UPY3	p.Leu210Ter	rs886037730	stop gained	-	NC_000014.9:g.95129577A>C	TOPMed
DICER1	Q9UPY3	p.Asn211Asp	rs1392979238	missense variant	-	NC_000014.9:g.95129575T>C	TOPMed
DICER1	Q9UPY3	p.Asp215Asn	rs781713298	missense variant	-	NC_000014.9:g.95129563C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro216Thr	rs757700482	missense variant	-	NC_000014.9:g.95129560G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro216Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95129560G>A	NCI-TCGA
DICER1	Q9UPY3	p.Glu217Val	RCV000692066	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129556T>A	ClinVar
DICER1	Q9UPY3	p.Glu217Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95129555C>A	NCI-TCGA
DICER1	Q9UPY3	p.Glu218Lys	RCV000474822	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129554C>T	ClinVar
DICER1	Q9UPY3	p.Glu218Ter	COSM297364	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95129554C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu218Lys	rs747514493	missense variant	-	NC_000014.9:g.95129554C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu220Asp	RCV000542050	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129546T>G	ClinVar
DICER1	Q9UPY3	p.Glu220Asp	rs1555375819	missense variant	-	NC_000014.9:g.95129546T>G	-
DICER1	Q9UPY3	p.Glu221Val	RCV000814385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129544T>A	ClinVar
DICER1	Q9UPY3	p.Glu221Val	rs757925350	missense variant	-	NC_000014.9:g.95129544T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu221Val	RCV000569381	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129544T>A	ClinVar
DICER1	Q9UPY3	p.Lys222Glu	rs752322804	missense variant	-	NC_000014.9:g.95129542T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys222Asn	COSM959282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95129540C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Gln224Leu	RCV000654408	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129535T>A	ClinVar
DICER1	Q9UPY3	p.Gln224Leu	rs1555375816	missense variant	-	NC_000014.9:g.95129535T>A	-
DICER1	Q9UPY3	p.Lys225Arg	rs1445983492	missense variant	-	NC_000014.9:g.95129532T>C	gnomAD
DICER1	Q9UPY3	p.Lys225Gln	rs764839440	missense variant	-	NC_000014.9:g.95129533T>G	ExAC
DICER1	Q9UPY3	p.Glu227Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95129525C>A	NCI-TCGA
DICER1	Q9UPY3	p.Lys228Arg	RCV000463769	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129523T>C	ClinVar
DICER1	Q9UPY3	p.Lys228Arg	rs1060503659	missense variant	-	NC_000014.9:g.95129523T>C	-
DICER1	Q9UPY3	p.Leu230Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95129518G>T	NCI-TCGA
DICER1	Q9UPY3	p.Lys231Arg	rs754799308	missense variant	-	NC_000014.9:g.95129514T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn233Ser	rs1465088683	missense variant	-	NC_000014.9:g.95129508T>C	gnomAD
DICER1	Q9UPY3	p.Thr238Ala	rs760627991	missense variant	-	NC_000014.9:g.95129494T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp239Gly	rs1555375788	missense variant	-	NC_000014.9:g.95129490T>C	-
DICER1	Q9UPY3	p.Asp239Gly	RCV000654445	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129490T>C	ClinVar
DICER1	Q9UPY3	p.Leu240Val	rs1060503615	missense variant	-	NC_000014.9:g.95129488G>C	-
DICER1	Q9UPY3	p.Leu240Val	RCV000460684	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129488G>C	ClinVar
DICER1	Q9UPY3	p.Val241Leu	rs1312732514	missense variant	-	NC_000014.9:g.95129485C>A	TOPMed
DICER1	Q9UPY3	p.Val242Ile	rs1290563406	missense variant	-	NC_000014.9:g.95129482C>T	gnomAD
DICER1	Q9UPY3	p.Asp244Gly	rs764223602	missense variant	-	NC_000014.9:g.95129475T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg245Ser	rs767605412	missense variant	-	NC_000014.9:g.95126748C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg245Lys	COSM959281	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95129472C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg245Ser	RCV000531119	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126748C>A	ClinVar
DICER1	Q9UPY3	p.Tyr246Cys	RCV000546158	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126746T>C	ClinVar
DICER1	Q9UPY3	p.Tyr246Cys	rs775370673	missense variant	-	NC_000014.9:g.95126746T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr246Phe	rs775370673	missense variant	-	NC_000014.9:g.95126746T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr247Ala	RCV000560829	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126744T>C	ClinVar
DICER1	Q9UPY3	p.Thr247Ala	rs369189695	missense variant	-	NC_000014.9:g.95126744T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser248Thr	rs759633210	missense variant	-	NC_000014.9:g.95126741A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser248Thr	RCV000463647	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126741A>T	ClinVar
DICER1	Q9UPY3	p.Gln249Ter	RCV000240901	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
DICER1	Q9UPY3	p.del249del	RCV000240901	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
DICER1	Q9UPY3	p.Gln249Arg	rs776934552	missense variant	-	NC_000014.9:g.95126737T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln249Ter	rs886037732	stop gained	-	NC_000014.9:g.95126738G>A	-
DICER1	Q9UPY3	p.Cys251Arg	rs1353008772	missense variant	-	NC_000014.9:g.95126732A>G	-
DICER1	Q9UPY3	p.Cys251Tyr	rs1167822359	missense variant	-	NC_000014.9:g.95126731C>T	gnomAD
DICER1	Q9UPY3	p.Cys251Arg	RCV000654449	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126732A>G	ClinVar
DICER1	Q9UPY3	p.Ile253Ter	RCV000654362	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126726dup	ClinVar
DICER1	Q9UPY3	p.Ile253Val	rs1418479189	missense variant	-	NC_000014.9:g.95126726T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly258Val	RCV000324795	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95126710C>A	ClinVar
DICER1	Q9UPY3	p.Gly258Val	rs188327838	missense variant	-	NC_000014.9:g.95126710C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro259Leu	RCV000576081	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126707G>A	ClinVar
DICER1	Q9UPY3	p.Pro259Leu	RCV000558887	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126707G>A	ClinVar
DICER1	Q9UPY3	p.Pro259Leu	rs566464225	missense variant	-	NC_000014.9:g.95126707G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu266Phe	rs772627278	missense variant	-	NC_000014.9:g.95126687G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu268Gly	RCV000470858	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126680T>C	ClinVar
DICER1	Q9UPY3	p.Glu268Gly	rs774554682	missense variant	-	NC_000014.9:g.95126680T>C	gnomAD
DICER1	Q9UPY3	p.Glu268Lys	rs1251925935	missense variant	-	NC_000014.9:g.95126681C>T	gnomAD
DICER1	Q9UPY3	p.Met272Ile	RCV000699253	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126667C>G	ClinVar
DICER1	Q9UPY3	p.Met272Ile	COSM3499500	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95126667C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu273Ala	RCV000691517	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126665T>G	ClinVar
DICER1	Q9UPY3	p.Leu274Val	RCV000568089	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126663A>C	ClinVar
DICER1	Q9UPY3	p.Leu274Val	RCV000474599	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126663A>C	ClinVar
DICER1	Q9UPY3	p.Leu274Val	rs778219828	missense variant	-	NC_000014.9:g.95126663A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu275Ala	COSM1323310	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95126659T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu275Ter	rs1555375333	stop gained	-	NC_000014.9:g.95126660C>A	-
DICER1	Q9UPY3	p.Glu275Ter	RCV000536462	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126660C>A	ClinVar
DICER1	Q9UPY3	p.Ala277Val	RCV000476889	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126653G>A	ClinVar
DICER1	Q9UPY3	p.Ala277Val	rs986916694	missense variant	-	NC_000014.9:g.95126653G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu278Phe	RCV000240941	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126651G>A	ClinVar
DICER1	Q9UPY3	p.Leu278Phe	rs768248216	missense variant	-	NC_000014.9:g.95126651G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn279Tyr	RCV000687219	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126648T>A	ClinVar
DICER1	Q9UPY3	p.Asn279Tyr	rs1345404696	missense variant	-	NC_000014.9:g.95126648T>A	gnomAD
DICER1	Q9UPY3	p.Asn279Ser	rs1422024152	missense variant	-	NC_000014.9:g.95126647T>C	TOPMed
DICER1	Q9UPY3	p.Phe280Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95126643A>C	NCI-TCGA
DICER1	Q9UPY3	p.Asp283Val	RCV000686266	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126635T>A	ClinVar
DICER1	Q9UPY3	p.Cys284Tyr	RCV000696424	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126632C>T	ClinVar
DICER1	Q9UPY3	p.Cys284Arg	rs1412252643	missense variant	-	NC_000014.9:g.95126633A>G	gnomAD
DICER1	Q9UPY3	p.Asn285Ser	rs748847398	missense variant	-	NC_000014.9:g.95126629T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn285Ser	RCV000571313	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126629T>C	ClinVar
DICER1	Q9UPY3	p.Ser287Cys	RCV000469952	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126623G>C	ClinVar
DICER1	Q9UPY3	p.Ser287Cys	rs1060503600	missense variant	-	NC_000014.9:g.95126623G>C	-
DICER1	Q9UPY3	p.Val288Ile	RCV000654405	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126621C>T	ClinVar
DICER1	Q9UPY3	p.Val288Ile	rs1555375302	missense variant	-	NC_000014.9:g.95126621C>T	-
DICER1	Q9UPY3	p.Ser290Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95126614G>A	NCI-TCGA
DICER1	Q9UPY3	p.Arg293Ter	RCV000493107	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126603_95126606del	ClinVar
DICER1	Q9UPY3	p.Arg293Ter	RCV000493010	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126608del	ClinVar
DICER1	Q9UPY3	p.Arg293Gly	RCV000225818	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126606T>C	ClinVar
DICER1	Q9UPY3	p.Arg293Ter	RCV000240877	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126603_95126606del	ClinVar
DICER1	Q9UPY3	p.Arg293Gly	rs878855277	missense variant	-	NC_000014.9:g.95126606T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser295Cys	RCV000566029	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126599G>C	ClinVar
DICER1	Q9UPY3	p.Ser295Cys	rs548231008	missense variant	-	NC_000014.9:g.95126599G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser299Leu	RCV000232640	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126587G>A	ClinVar
DICER1	Q9UPY3	p.Ser299Leu	RCV000565567	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126587G>A	ClinVar
DICER1	Q9UPY3	p.Ser299Leu	rs755944755	missense variant	-	NC_000014.9:g.95126587G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys300Glu	rs1428486464	missense variant	-	NC_000014.9:g.95126585T>C	gnomAD
DICER1	Q9UPY3	p.Gln301Ter	RCV000526362	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126582G>A	ClinVar
DICER1	Q9UPY3	p.Gln301Ter	rs781144010	stop gained	-	NC_000014.9:g.95126582G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln301Glu	rs781144010	missense variant	-	NC_000014.9:g.95126582G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile302Leu	rs1555374864	missense variant	-	NC_000014.9:g.95124668T>G	-
DICER1	Q9UPY3	p.Ile302Leu	RCV000654366	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124668T>G	ClinVar
DICER1	Q9UPY3	p.Arg307Cys	RCV000568506	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124653G>A	ClinVar
DICER1	Q9UPY3	p.Arg307Cys	RCV000551570	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124653G>A	ClinVar
DICER1	Q9UPY3	p.Arg307His	RCV000226203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124652C>T	ClinVar
DICER1	Q9UPY3	p.Arg307His	RCV000570173	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124652C>T	ClinVar
DICER1	Q9UPY3	p.Arg307Gly	rs772431718	missense variant	-	NC_000014.9:g.95124653G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg307Cys	rs772431718	missense variant	-	NC_000014.9:g.95124653G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg307His	rs149718671	missense variant	-	NC_000014.9:g.95124652C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala308Thr	rs1047347414	missense variant	-	NC_000014.9:g.95124650C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala308Ser	rs1047347414	missense variant	-	NC_000014.9:g.95124650C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val309Ile	RCV000525307	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124647C>T	ClinVar
DICER1	Q9UPY3	p.Val309Ile	RCV000569084	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124647C>T	ClinVar
DICER1	Q9UPY3	p.Val309Ile	rs1181141404	missense variant	-	NC_000014.9:g.95124647C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu310Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95124642C>A	NCI-TCGA
DICER1	Q9UPY3	p.Leu313Ter	RCV000493641	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124635dup	ClinVar
DICER1	Q9UPY3	p.Pro315Leu	rs956714281	missense variant	-	NC_000014.9:g.95124628G>A	TOPMed
DICER1	Q9UPY3	p.Trp316Ter	RCV000493574	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124612_95124625del	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	RCV000654416	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124625C>T	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	RCV000851487	nonsense	-	NC_000014.9:g.95124625C>T	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	rs1555374839	stop gained	-	NC_000014.9:g.95124625C>T	-
DICER1	Q9UPY3	p.Lys320Arg	RCV000463070	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124613T>C	ClinVar
DICER1	Q9UPY3	p.Lys320Glu	rs1461043339	missense variant	-	NC_000014.9:g.95124614T>C	gnomAD
DICER1	Q9UPY3	p.Lys320Arg	rs779851333	missense variant	-	NC_000014.9:g.95124613T>C	ExAC
DICER1	Q9UPY3	p.Val321Ala	rs769510530	missense variant	-	NC_000014.9:g.95124610A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly323Val	RCV000540314	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124604C>A	ClinVar
DICER1	Q9UPY3	p.Gly323Val	RCV000563980	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124604C>A	ClinVar
DICER1	Q9UPY3	p.Gly323Val	rs906299601	missense variant	-	NC_000014.9:g.95124604C>A	gnomAD
DICER1	Q9UPY3	p.Met324Ile	RCV000654395	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124600C>T	ClinVar
DICER1	Q9UPY3	p.Met324Val	rs1452957166	missense variant	-	NC_000014.9:g.95124602T>C	gnomAD
DICER1	Q9UPY3	p.Met324Ile	rs1555374806	missense variant	-	NC_000014.9:g.95124600C>T	-
DICER1	Q9UPY3	p.Met325Val	RCV000654430	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124599T>C	ClinVar
DICER1	Q9UPY3	p.Met325Val	rs1555374801	missense variant	-	NC_000014.9:g.95124599T>C	-
DICER1	Q9UPY3	p.Met325Ile	rs1260695579	missense variant	-	NC_000014.9:g.95124597C>T	gnomAD
DICER1	Q9UPY3	p.Val326Ile	RCV000654443	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>T	ClinVar
DICER1	Q9UPY3	p.Val326Ala	COSM4053291	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124595A>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Val326Ile	rs1555374798	missense variant	-	NC_000014.9:g.95124596C>T	-
DICER1	Q9UPY3	p.Val326Leu	rs1555374798	missense variant	-	NC_000014.9:g.95124596C>G	-
DICER1	Q9UPY3	p.Val326Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95124596C>A	NCI-TCGA
DICER1	Q9UPY3	p.Val326Leu	RCV000566754	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124596C>G	ClinVar
DICER1	Q9UPY3	p.Val326Leu	RCV000654393	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>G	ClinVar
DICER1	Q9UPY3	p.Arg327Gly	RCV000554989	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124593T>C	ClinVar
DICER1	Q9UPY3	p.Arg327Gly	rs1555374797	missense variant	-	NC_000014.9:g.95124593T>C	-
DICER1	Q9UPY3	p.Glu328Ter	COSM1371857	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95124590C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Tyr332Ter	RCV000240904	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124576G>T	ClinVar
DICER1	Q9UPY3	p.Tyr332Ter	rs757094384	stop gained	-	NC_000014.9:g.95124576G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His335Arg	RCV000471033	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124568T>C	ClinVar
DICER1	Q9UPY3	p.His335Gln	RCV000696809	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124567A>C	ClinVar
DICER1	Q9UPY3	p.His335Arg	RCV000573917	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124568T>C	ClinVar
DICER1	Q9UPY3	p.His335Arg	rs1060503602	missense variant	-	NC_000014.9:g.95124568T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.His335Tyr	rs556647675	missense variant	-	NC_000014.9:g.95124569G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Gln337His	rs1383771176	missense variant	-	NC_000014.9:g.95124561T>G	gnomAD
DICER1	Q9UPY3	p.Gln337His	RCV000692200	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124561T>G	ClinVar
DICER1	Q9UPY3	p.Glu338Ala	RCV000120644	missense variant	-	NC_000014.9:g.95124559T>G	ClinVar
DICER1	Q9UPY3	p.Glu338Ala	rs587778232	missense variant	-	NC_000014.9:g.95124559T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu339Asp	RCV000654438	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124555C>G	ClinVar
DICER1	Q9UPY3	p.Glu339Leu	rs1555374783	missense variant	-	NC_000014.9:g.95124556_95124557delinsAA	-
DICER1	Q9UPY3	p.Glu339Asp	rs755007541	missense variant	-	NC_000014.9:g.95124555C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu339Leu	RCV000535438	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124556_95124557delinsAA	ClinVar
DICER1	Q9UPY3	p.Leu340Pro	rs753974932	missense variant	-	NC_000014.9:g.95124553A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.His341Pro	COSM959279	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124550T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg342Ter	RCV000493822	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124548del	ClinVar
DICER1	Q9UPY3	p.Arg342Ser	COSM3499499	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124546C>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Phe344Ter	RCV000550323	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124545dup	ClinVar
DICER1	Q9UPY3	p.Phe344Ter	RCV000851433	frameshift	-	NC_000014.9:g.95124545dup	ClinVar
DICER1	Q9UPY3	p.Phe344Leu	RCV000533944	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124540A>C	ClinVar
DICER1	Q9UPY3	p.Phe344Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95124542A>T	NCI-TCGA
DICER1	Q9UPY3	p.Phe344Leu	rs1161765608	missense variant	-	NC_000014.9:g.95124540A>C	gnomAD
DICER1	Q9UPY3	p.Leu346Phe	RCV000695217	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124534C>A	ClinVar
DICER1	Q9UPY3	p.Leu346Ter	rs1444222157	stop gained	-	NC_000014.9:g.95124535A>T	gnomAD
DICER1	Q9UPY3	p.Thr348Ile	rs1195740384	missense variant	-	NC_000014.9:g.95124529G>A	gnomAD
DICER1	Q9UPY3	p.Thr348Ala	rs1555374767	missense variant	-	NC_000014.9:g.95124530T>C	-
DICER1	Q9UPY3	p.Thr348Ala	RCV000548854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124530T>C	ClinVar
DICER1	Q9UPY3	p.Phe351Leu	rs1358609309	missense variant	-	NC_000014.9:g.95124519G>C	gnomAD
DICER1	Q9UPY3	p.His356Arg	RCV000561726	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124505T>C	ClinVar
DICER1	Q9UPY3	p.His356Arg	rs1212942890	missense variant	-	NC_000014.9:g.95124505T>C	TOPMed
DICER1	Q9UPY3	p.His356Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95124505T>A	NCI-TCGA
DICER1	Q9UPY3	p.Ala357Val	RCV000542132	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124502G>A	ClinVar
DICER1	Q9UPY3	p.Ala357Thr	rs760821185	missense variant	-	NC_000014.9:g.95124503C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala357Val	rs1555374756	missense variant	-	NC_000014.9:g.95124502G>A	-
DICER1	Q9UPY3	p.Cys359Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95124496C>T	NCI-TCGA
DICER1	Q9UPY3	p.Glu361Lys	RCV000566742	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124491C>T	ClinVar
DICER1	Q9UPY3	p.Glu361Lys	rs878855238	missense variant	-	NC_000014.9:g.95124491C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu361Lys	RCV000232128	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124491C>T	ClinVar
DICER1	Q9UPY3	p.His362Arg	RCV000474601	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124487T>C	ClinVar
DICER1	Q9UPY3	p.His362Arg	rs767729028	missense variant	-	NC_000014.9:g.95124487T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe363Leu	rs878855239	missense variant	-	NC_000014.9:g.95124483G>T	gnomAD
DICER1	Q9UPY3	p.Phe363Val	rs762290893	missense variant	-	NC_000014.9:g.95124485A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser364Leu	RCV000654434	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124481G>A	ClinVar
DICER1	Q9UPY3	p.Ser364Leu	rs1555374748	missense variant	-	NC_000014.9:g.95124481G>A	-
DICER1	Q9UPY3	p.Pro365Leu	RCV000467606	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124478G>A	ClinVar
DICER1	Q9UPY3	p.Pro365Arg	rs1060503598	missense variant	-	NC_000014.9:g.95124478G>C	gnomAD
DICER1	Q9UPY3	p.Pro365Leu	rs1060503598	missense variant	-	NC_000014.9:g.95124478G>A	gnomAD
DICER1	Q9UPY3	p.Ala366Val	rs774693190	missense variant	-	NC_000014.9:g.95124475G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu368Ile	RCV000574059	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124470G>T	ClinVar
DICER1	Q9UPY3	p.Leu368Val	RCV000547415	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124470G>C	ClinVar
DICER1	Q9UPY3	p.Leu368Val	rs1555374747	missense variant	-	NC_000014.9:g.95124470G>C	-
DICER1	Q9UPY3	p.Leu368Ile	rs1555374747	missense variant	-	NC_000014.9:g.95124470G>T	-
DICER1	Q9UPY3	p.Asp369Glu	RCV000525847	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124465G>T	ClinVar
DICER1	Q9UPY3	p.Asp369Gly	rs1441684309	missense variant	-	NC_000014.9:g.95124466T>C	TOPMed
DICER1	Q9UPY3	p.Asp369Glu	rs1555374745	missense variant	-	NC_000014.9:g.95124465G>T	-
DICER1	Q9UPY3	p.Leu370Pro	RCV000229751	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124463A>G	ClinVar
DICER1	Q9UPY3	p.Leu370Pro	rs878855240	missense variant	-	NC_000014.9:g.95124463A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val373Leu	RCV000540691	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124455C>G	ClinVar
DICER1	Q9UPY3	p.Val373Leu	rs369145814	missense variant	-	NC_000014.9:g.95124455C>G	ESP,TOPMed
DICER1	Q9UPY3	p.Pro375Arg	RCV000761116	missense variant	Neuroblastoma (NBLST1)	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Pro375Arg	RCV000570796	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Pro375Arg	rs148758903	missense variant	-	NC_000014.9:g.95124448G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro375Arg	RCV000231396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Lys376AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95124440_95124444TTACT>-	NCI-TCGA
DICER1	Q9UPY3	p.Val377Ala	rs1390995232	missense variant	-	NC_000014.9:g.95124442A>G	gnomAD
DICER1	Q9UPY3	p.Ile378Phe	COSM959278	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124440T>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ile378Met	rs769457054	missense variant	-	NC_000014.9:g.95124438G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile378Asn	rs775070199	missense variant	-	NC_000014.9:g.95124439A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys379Ter	RCV000528753	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124437del	ClinVar
DICER1	Q9UPY3	p.Leu380Gln	rs1372798580	missense variant	-	NC_000014.9:g.95124433A>T	gnomAD
DICER1	Q9UPY3	p.del382del	RCV000493341	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Ter	RCV000493341	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Ter	RCV000240937	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.del382del	RCV000240937	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Ter	rs886037667	stop gained	-	NC_000014.9:g.95124428C>A	gnomAD
DICER1	Q9UPY3	p.Glu382Lys	rs886037667	missense variant	-	NC_000014.9:g.95124428C>T	gnomAD
DICER1	Q9UPY3	p.Ile383Met	rs1219577339	missense variant	-	NC_000014.9:g.95124423G>C	gnomAD
DICER1	Q9UPY3	p.Arg385Gly	RCV000567826	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124419G>C	ClinVar
DICER1	Q9UPY3	p.Arg385Gly	rs746886465	missense variant	-	NC_000014.9:g.95124419G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385Cys	rs746886465	missense variant	-	NC_000014.9:g.95124419G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385Ser	rs746886465	missense variant	-	NC_000014.9:g.95124419G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385His	rs1273140956	missense variant	-	NC_000014.9:g.95124418C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys386Arg	RCV000654459	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124415T>C	ClinVar
DICER1	Q9UPY3	p.Lys386Arg	RCV000565916	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124415T>C	ClinVar
DICER1	Q9UPY3	p.Lys386Arg	rs777556655	missense variant	-	NC_000014.9:g.95124415T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys388Glu	RCV000654450	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124410T>C	ClinVar
DICER1	Q9UPY3	p.Lys388Glu	rs1555374717	missense variant	-	NC_000014.9:g.95124410T>C	-
DICER1	Q9UPY3	p.Tyr390His	RCV000851434	missense variant	-	NC_000014.9:g.95124404A>G	ClinVar
DICER1	Q9UPY3	p.Tyr390His	rs878855241	missense variant	-	NC_000014.9:g.95124404A>G	-
DICER1	Q9UPY3	p.Glu391Asp	rs1269365429	missense variant	-	NC_000014.9:g.95124399C>A	gnomAD
DICER1	Q9UPY3	p.Arg392Ter	RCV000851396	nonsense	-	NC_000014.9:g.95124398G>A	ClinVar
DICER1	Q9UPY3	p.Arg392Gln	rs142635816	missense variant	-	NC_000014.9:g.95124397C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg392Ter	rs1131691211	stop gained	-	NC_000014.9:g.95124398G>A	-
DICER1	Q9UPY3	p.Glu396Gly	RCV000552764	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385T>C	ClinVar
DICER1	Q9UPY3	p.Glu396Ter	RCV000493573	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.del396del	RCV000493573	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Glu396Ter	RCV000240876	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.del396del	RCV000240876	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Glu396Gly	rs1555374707	missense variant	-	NC_000014.9:g.95124385T>C	-
DICER1	Q9UPY3	p.Ser397Asn	rs1347290726	missense variant	-	NC_000014.9:g.95124382C>T	gnomAD
DICER1	Q9UPY3	p.Ser397Asn	RCV000571846	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124382C>T	ClinVar
DICER1	Q9UPY3	p.Val398Ile	RCV000687412	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124380C>T	ClinVar
DICER1	Q9UPY3	p.Val398Ile	rs1404281132	missense variant	-	NC_000014.9:g.95124380C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu399Ala	rs1555374703	missense variant	-	NC_000014.9:g.95124376T>G	-
DICER1	Q9UPY3	p.Glu399Ala	RCV000654433	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124376T>G	ClinVar
DICER1	Q9UPY3	p.Tyr401Ter	RCV000240914	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124370dup	ClinVar
DICER1	Q9UPY3	p.Tyr401Ter	rs886037669	stop gained	-	NC_000014.9:g.95124370dup	-
DICER1	Q9UPY3	p.Tyr401Cys	rs1355146488	missense variant	-	NC_000014.9:g.95124370T>C	gnomAD
DICER1	Q9UPY3	p.Arg404Ile	COSM959277	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124361C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asn405Ser	rs1024226278	missense variant	-	NC_000014.9:g.95124358T>C	TOPMed
DICER1	Q9UPY3	p.Asn405His	RCV000574527	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124359T>G	ClinVar
DICER1	Q9UPY3	p.Asn405His	RCV000531172	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124359T>G	ClinVar
DICER1	Q9UPY3	p.Asn405His	rs551460901	missense variant	-	NC_000014.9:g.95124359T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln406Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95124356G>A	NCI-TCGA
DICER1	Q9UPY3	p.Asn408Asp	rs750625383	missense variant	-	NC_000014.9:g.95124350T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser411Ala	RCV000692244	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124341A>C	ClinVar
DICER1	Q9UPY3	p.Trp412Ter	RCV000523257	frameshift	-	NC_000014.9:g.95124338del	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	RCV000704373	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124335T>G	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	rs1555374678	missense variant	-	NC_000014.9:g.95124335T>G	-
DICER1	Q9UPY3	p.Ser413Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95124335T>C	NCI-TCGA
DICER1	Q9UPY3	p.Ser413Arg	RCV000574576	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124335T>G	ClinVar
DICER1	Q9UPY3	p.Asp414Gly	rs1344560237	missense variant	-	NC_000014.9:g.95124331T>C	TOPMed
DICER1	Q9UPY3	p.Glu416Ter	RCV000493435	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124326C>A	ClinVar
DICER1	Q9UPY3	p.Glu416Ter	rs1131691220	stop gained	-	NC_000014.9:g.95124326C>A	-
DICER1	Q9UPY3	p.Asp417Glu	RCV000541482	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124321A>C	ClinVar
DICER1	Q9UPY3	p.Asp417Glu	rs899404083	missense variant	-	NC_000014.9:g.95124321A>C	TOPMed
DICER1	Q9UPY3	p.Asp417Asn	rs150714784	missense variant	-	NC_000014.9:g.95124323C>T	ESP,ExAC
DICER1	Q9UPY3	p.Asp419Gly	RCV000466450	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124316T>C	ClinVar
DICER1	Q9UPY3	p.Asp419Gly	rs1060503623	missense variant	-	NC_000014.9:g.95124316T>C	-
DICER1	Q9UPY3	p.Glu420Lys	rs1555374663	missense variant	-	NC_000014.9:g.95124314C>T	-
DICER1	Q9UPY3	p.Glu420Gly	rs1280386879	missense variant	-	NC_000014.9:g.95124313T>C	TOPMed
DICER1	Q9UPY3	p.Glu420Lys	RCV000654435	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124314C>T	ClinVar
DICER1	Q9UPY3	p.Asp421Gly	rs764367623	missense variant	-	NC_000014.9:g.95124310T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu422Lys	RCV000704087	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124308C>T	ClinVar
DICER1	Q9UPY3	p.Ile424Thr	rs763512012	missense variant	-	NC_000014.9:g.95124301A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu425Lys	rs1435715607	missense variant	-	NC_000014.9:g.95124299C>T	gnomAD
DICER1	Q9UPY3	p.Glu426Ter	COSM959276	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95124296C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu426Lys	rs776158166	missense variant	-	NC_000014.9:g.95124296C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu426Gln	rs776158166	missense variant	-	NC_000014.9:g.95124296C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu428Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95124290C>G	NCI-TCGA
DICER1	Q9UPY3	p.Lys429Met	rs1325355975	missense variant	-	NC_000014.9:g.95124286T>A	gnomAD
DICER1	Q9UPY3	p.Pro430Ala	RCV000462069	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124284G>C	ClinVar
DICER1	Q9UPY3	p.Pro430Ala	RCV000574018	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124284G>C	ClinVar
DICER1	Q9UPY3	p.Pro430Ala	rs1060503601	missense variant	-	NC_000014.9:g.95124284G>C	TOPMed
DICER1	Q9UPY3	p.Asn433Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95124273A>T	NCI-TCGA
DICER1	Q9UPY3	p.Pro435Ser	rs1222748384	missense variant	-	NC_000014.9:g.95124269G>A	gnomAD
DICER1	Q9UPY3	p.Pro435Leu	VAR_081917	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Ser436Pro	RCV000465655	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124266A>G	ClinVar
DICER1	Q9UPY3	p.Ser436Pro	rs1060503595	missense variant	-	NC_000014.9:g.95124266A>G	-
DICER1	Q9UPY3	p.Ser436Phe	rs1213682122	missense variant	-	NC_000014.9:g.95124265G>A	gnomAD
DICER1	Q9UPY3	p.Pro437Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95124263G>C	NCI-TCGA
DICER1	Q9UPY3	p.Thr439Ser	RCV000687785	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124256G>C	ClinVar
DICER1	Q9UPY3	p.Leu442Ter	RCV000493723	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124250dup	ClinVar
DICER1	Q9UPY3	p.Gly444Arg	rs1440194810	missense variant	-	NC_000014.9:g.95124242C>T	gnomAD
DICER1	Q9UPY3	p.Ile446Val	rs1376773899	missense variant	-	NC_000014.9:g.95124236T>C	TOPMed
DICER1	Q9UPY3	p.Val448Met	rs1555374618	missense variant	-	NC_000014.9:g.95124230C>T	-
DICER1	Q9UPY3	p.Val448Met	RCV000654369	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124230C>T	ClinVar
DICER1	Q9UPY3	p.Tyr452Ter	RCV000494670	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124216G>C	ClinVar
DICER1	Q9UPY3	p.Tyr452Ter	rs1131691219	stop gained	-	NC_000014.9:g.95124216G>C	-
DICER1	Q9UPY3	p.Ala454Thr	rs368535616	missense variant	-	NC_000014.9:g.95124212C>T	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Arg459Gly	RCV000689168	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124197T>C	ClinVar
DICER1	Q9UPY3	p.Leu460Phe	rs1555373260	missense variant	-	NC_000014.9:g.95117751C>G	-
DICER1	Q9UPY3	p.Leu460Phe	RCV000572584	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117751C>G	ClinVar
DICER1	Q9UPY3	p.Ile461Leu	RCV000818349	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117750T>A	ClinVar
DICER1	Q9UPY3	p.Ile461Leu	RCV000574882	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117750T>A	ClinVar
DICER1	Q9UPY3	p.Ile461Leu	rs141163928	missense variant	-	NC_000014.9:g.95117750T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile461Val	RCV000331637	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117750T>C	ClinVar
DICER1	Q9UPY3	p.Ile461Val	rs141163928	missense variant	-	NC_000014.9:g.95117750T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys462Arg	RCV000574921	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117746T>C	ClinVar
DICER1	Q9UPY3	p.Lys462Arg	RCV000544563	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117746T>C	ClinVar
DICER1	Q9UPY3	p.Lys462Arg	rs1555373256	missense variant	-	NC_000014.9:g.95117746T>C	-
DICER1	Q9UPY3	p.Ala464Gly	rs761639108	missense variant	-	NC_000014.9:g.95117740G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala464Gly	RCV000563971	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117740G>C	ClinVar
DICER1	Q9UPY3	p.Ala464Gly	RCV000797427	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117740G>C	ClinVar
DICER1	Q9UPY3	p.Gln467Ter	RCV000493643	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117730_95117731del	ClinVar
DICER1	Q9UPY3	p.Asp468Gly	rs536815965	missense variant	-	NC_000014.9:g.95117728T>C	1000Genomes
DICER1	Q9UPY3	p.Glu470Ter	RCV000494242	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.del470del	RCV000494242	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Asp	RCV000559384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117721C>G	ClinVar
DICER1	Q9UPY3	p.Glu470Ter	RCV000240880	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.del470del	RCV000240880	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Asp	rs774271782	missense variant	-	NC_000014.9:g.95117721C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu470Ter	rs886037671	stop gained	-	NC_000014.9:g.95117723C>A	-
DICER1	Q9UPY3	p.Ala472Thr	rs1374595292	missense variant	-	NC_000014.9:g.95117717C>T	gnomAD
DICER1	Q9UPY3	p.Tyr473Ser	RCV000654415	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117713T>G	ClinVar
DICER1	Q9UPY3	p.Tyr473Ter	RCV000543044	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117715del	ClinVar
DICER1	Q9UPY3	p.Tyr473Ser	rs1314692347	missense variant	-	NC_000014.9:g.95117713T>G	gnomAD
DICER1	Q9UPY3	p.Tyr473Cys	rs1314692347	missense variant	-	NC_000014.9:g.95117713T>C	gnomAD
DICER1	Q9UPY3	p.Ile474Val	RCV000470835	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117711T>C	ClinVar
DICER1	Q9UPY3	p.Ile474Val	rs1060503581	missense variant	-	NC_000014.9:g.95117711T>C	-
DICER1	Q9UPY3	p.Ile474Met	rs768640312	missense variant	-	NC_000014.9:g.95117709G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser475Cys	RCV000573989	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117708T>A	ClinVar
DICER1	Q9UPY3	p.Ser475Cys	RCV000472646	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117708T>A	ClinVar
DICER1	Q9UPY3	p.Ser475Cys	rs1060503594	missense variant	-	NC_000014.9:g.95117708T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn477Ser	RCV000475639	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117701T>C	ClinVar
DICER1	Q9UPY3	p.Asn477Ser	RCV000564585	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117701T>C	ClinVar
DICER1	Q9UPY3	p.Asn477Ser	rs1060503630	missense variant	-	NC_000014.9:g.95117701T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile479Val	rs1293949005	missense variant	-	NC_000014.9:g.95117696T>C	TOPMed
DICER1	Q9UPY3	p.Gly481Val	rs1307281391	missense variant	-	NC_000014.9:g.95117689C>A	TOPMed
DICER1	Q9UPY3	p.His482Arg	RCV000654452	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117686T>C	ClinVar
DICER1	Q9UPY3	p.His482Arg	rs749240414	missense variant	-	NC_000014.9:g.95117686T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly485Arg	RCV000556393	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117678C>T	ClinVar
DICER1	Q9UPY3	p.Gly485Arg	rs762155753	missense variant	-	NC_000014.9:g.95117678C>T	gnomAD
DICER1	Q9UPY3	p.Asn487Tyr	RCV000476049	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117672T>A	ClinVar
DICER1	Q9UPY3	p.Asn487Tyr	rs1060503590	missense variant	-	NC_000014.9:g.95117672T>A	-
DICER1	Q9UPY3	p.Gln488Ter	RCV000493763	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117669dup	ClinVar
DICER1	Q9UPY3	p.Gln488His	rs770934736	missense variant	-	NC_000014.9:g.95117667C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro489Leu	RCV000472468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117665G>A	ClinVar
DICER1	Q9UPY3	p.Pro489Leu	rs200866760	missense variant	-	NC_000014.9:g.95117665G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490His	RCV000534895	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117662C>T	ClinVar
DICER1	Q9UPY3	p.Arg490Cys	rs777894117	missense variant	-	NC_000014.9:g.95117663G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Cys	RCV000570166	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117663G>A	ClinVar
DICER1	Q9UPY3	p.Arg490Ser	RCV000472281	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>T	ClinVar
DICER1	Q9UPY3	p.Arg490Leu	rs1006363970	missense variant	-	NC_000014.9:g.95117662C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Ser	rs777894117	missense variant	-	NC_000014.9:g.95117663G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490His	rs1006363970	missense variant	-	NC_000014.9:g.95117662C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Cys	RCV000227215	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>A	ClinVar
DICER1	Q9UPY3	p.Lys492Arg	RCV000654469	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117656T>C	ClinVar
DICER1	Q9UPY3	p.Lys492Arg	rs758829946	missense variant	-	NC_000014.9:g.95117656T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln493Glu	rs1184987398	missense variant	-	NC_000014.9:g.95117654G>C	TOPMed
DICER1	Q9UPY3	p.Met494Ile	RCV000572347	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117649C>T	ClinVar
DICER1	Q9UPY3	p.Met494Ile	RCV000803105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117649C>T	ClinVar
DICER1	Q9UPY3	p.Met494Val	rs878855243	missense variant	-	NC_000014.9:g.95117651T>C	-
DICER1	Q9UPY3	p.Met494Val	RCV000231243	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117651T>C	ClinVar
DICER1	Q9UPY3	p.Met494Ile	rs1224788557	missense variant	-	NC_000014.9:g.95117649C>T	gnomAD
DICER1	Q9UPY3	p.Met494Thr	RCV000549790	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117650A>G	ClinVar
DICER1	Q9UPY3	p.Met494Thr	rs1269571329	missense variant	-	NC_000014.9:g.95117650A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala496Thr	rs779431881	missense variant	-	NC_000014.9:g.95117645C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu497Ala	COSM3815608	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95117641T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg499Gly	rs1205403584	missense variant	-	NC_000014.9:g.95117636T>C	gnomAD
DICER1	Q9UPY3	p.Lys500Ter	RCV000211121	nonsense	Pineoblastoma	NC_000014.9:g.95117633T>A	ClinVar
DICER1	Q9UPY3	p.Lys500Ter	rs875989782	stop gained	-	NC_000014.9:g.95117633T>A	-
DICER1	Q9UPY3	p.Glu502Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95117626T>C	NCI-TCGA
DICER1	Q9UPY3	p.Glu503Gln	rs137852977	missense variant	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95117624C>G	-
DICER1	Q9UPY3	p.Glu503Ter	RCV000493893	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	RCV000240918	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Gln	RCV000654409	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>G	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	RCV000004726	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	rs137852977	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95117624C>A	-
DICER1	Q9UPY3	p.Val504Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95116695C>A	NCI-TCGA
DICER1	Q9UPY3	p.Val504Ile	rs748384175	missense variant	-	NC_000014.9:g.95116695C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg509Ter	RCV000851442	nonsense	-	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	RCV000240959	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	RCV000494034	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	rs886037672	stop gained	-	NC_000014.9:g.95116680G>A	-
DICER1	Q9UPY3	p.Glu512Gly	RCV000540230	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116670T>C	ClinVar
DICER1	Q9UPY3	p.Glu512Asp	rs1375042165	missense variant	-	NC_000014.9:g.95116669C>G	gnomAD
DICER1	Q9UPY3	p.Glu512Gly	rs1555372903	missense variant	-	NC_000014.9:g.95116670T>C	-
DICER1	Q9UPY3	p.Asn514Ser	rs750188806	missense variant	-	NC_000014.9:g.95116664T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala518Gly	RCV000696372	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116652G>C	ClinVar
DICER1	Q9UPY3	p.Thr519Ala	RCV000695734	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116650T>C	ClinVar
DICER1	Q9UPY3	p.Ile521Val	rs966168689	missense variant	-	NC_000014.9:g.95116644T>C	TOPMed
DICER1	Q9UPY3	p.Val522Ala	rs1178338521	missense variant	-	NC_000014.9:g.95116640A>G	gnomAD
DICER1	Q9UPY3	p.Glu524Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95116635C>A	NCI-TCGA
DICER1	Q9UPY3	p.Val526Ile	RCV000470173	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116629C>T	ClinVar
DICER1	Q9UPY3	p.Val526Ile	rs1060503660	missense variant	-	NC_000014.9:g.95116629C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val526Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95116628A>G	NCI-TCGA
DICER1	Q9UPY3	p.Ile528Thr	RCV000232020	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116622A>G	ClinVar
DICER1	Q9UPY3	p.Ile528Val	rs755649018	missense variant	-	NC_000014.9:g.95116623T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	rs143099538	missense variant	-	NC_000014.9:g.95116622A>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	RCV000575192	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116622A>G	ClinVar
DICER1	Q9UPY3	p.Ile528Leu	rs755649018	missense variant	-	NC_000014.9:g.95116623T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95116621T>C	NCI-TCGA
DICER1	Q9UPY3	p.Lys530Arg	RCV000706694	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116616T>C	ClinVar
DICER1	Q9UPY3	p.Arg536Cys	RCV000573426	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116599G>A	ClinVar
DICER1	Q9UPY3	p.Arg536Cys	rs1007754435	missense variant	-	NC_000014.9:g.95116599G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu539CysPheSerTerUnkUnk	COSM959274	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95116589A>-	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu542Gly	rs761391603	missense variant	-	NC_000014.9:g.95116580T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu542Gly	RCV000570700	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116580T>C	ClinVar
DICER1	Q9UPY3	p.Glu542Gly	RCV000550573	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116580T>C	ClinVar
DICER1	Q9UPY3	p.Glu542Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95116581C>T	NCI-TCGA
DICER1	Q9UPY3	p.Arg544Ter	RCV000851443	nonsense	-	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000004729	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000240896	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Gln	RCV000528971	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116574C>T	ClinVar
DICER1	Q9UPY3	p.Arg544Gln	rs143533680	missense variant	-	NC_000014.9:g.95116574C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg544Ter	rs137852979	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95116575G>A	-
DICER1	Q9UPY3	p.Ser545Phe	rs1344891057	missense variant	-	NC_000014.9:g.95116571G>A	gnomAD
DICER1	Q9UPY3	p.Gln548Leu	rs1261880466	missense variant	-	NC_000014.9:g.95116562T>A	gnomAD
DICER1	Q9UPY3	p.Gly551Ter	RCV000240932	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
DICER1	Q9UPY3	p.del551del	RCV000240932	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
DICER1	Q9UPY3	p.Gly551Ter	rs886037673	stop gained	-	NC_000014.9:g.95116554C>A	-
DICER1	Q9UPY3	p.Arg554Gly	rs148532788	missense variant	-	NC_000014.9:g.95116545T>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala555Val	RCV000697921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116541G>A	ClinVar
DICER1	Q9UPY3	p.Ile557Met	COSM699745	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95116534G>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ile557Val	rs139198222	missense variant	-	NC_000014.9:g.95116536T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr560Cys	COSM959273	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95116526T>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ile561Val	rs147493562	missense variant	-	NC_000014.9:g.95116524T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile561Thr	RCV000553612	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116523A>G	ClinVar
DICER1	Q9UPY3	p.Ile561Val	RCV000233675	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116524T>C	ClinVar
DICER1	Q9UPY3	p.Ile561Thr	rs1383145692	missense variant	-	NC_000014.9:g.95116523A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met562Ter	RCV000240961	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
DICER1	Q9UPY3	p.del562del	RCV000240961	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
DICER1	Q9UPY3	p.Ala564Val	RCV000456479	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>A	ClinVar
DICER1	Q9UPY3	p.Ala564Gly	RCV000654417	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>C	ClinVar
DICER1	Q9UPY3	p.Ala564Val	RCV000571889	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116514G>A	ClinVar
DICER1	Q9UPY3	p.Ala564Val	rs201298288	missense variant	-	NC_000014.9:g.95116514G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala564Thr	rs773357230	missense variant	-	NC_000014.9:g.95116515C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala564Gly	rs201298288	missense variant	-	NC_000014.9:g.95116514G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp565Ter	RCV000542373	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116511del	ClinVar
DICER1	Q9UPY3	p.Asp565Val	rs1342138544	missense variant	-	NC_000014.9:g.95116511T>A	TOPMed
DICER1	Q9UPY3	p.Thr566Ter	RCV000240898	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
DICER1	Q9UPY3	p.del566del	RCV000240898	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
DICER1	Q9UPY3	p.Asp567Glu	rs1229773803	missense variant	-	NC_000014.9:g.95116504G>C	TOPMed
DICER1	Q9UPY3	p.Lys568Arg	RCV000705667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116502T>C	ClinVar
DICER1	Q9UPY3	p.Ile569Ter	RCV000459141	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499_95116503del	ClinVar
DICER1	Q9UPY3	p.Ile569Thr	RCV000654465	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499A>G	ClinVar
DICER1	Q9UPY3	p.Ile569Met	RCV000460011	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116498T>C	ClinVar
DICER1	Q9UPY3	p.Ile569Thr	rs1555372847	missense variant	-	NC_000014.9:g.95116499A>G	-
DICER1	Q9UPY3	p.Ile569Met	rs774765473	missense variant	-	NC_000014.9:g.95116498T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe572Ter	RCV000240934	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
DICER1	Q9UPY3	p.del572del	RCV000240934	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
DICER1	Q9UPY3	p.Asp575Glu	RCV000465908	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116480G>T	ClinVar
DICER1	Q9UPY3	p.Asp575Glu	rs1060503652	missense variant	-	NC_000014.9:g.95116480G>T	-
DICER1	Q9UPY3	p.Leu576Phe	rs1310449725	missense variant	-	NC_000014.9:g.95116479G>A	TOPMed
DICER1	Q9UPY3	p.Thr578Ter	RCV000561602	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116480del	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	RCV000564125	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116472G>C	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	RCV000459495	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116472G>C	ClinVar
DICER1	Q9UPY3	p.Thr578Ter	RCV000493051	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116476dup	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	rs1060503586	missense variant	-	NC_000014.9:g.95116472G>C	TOPMed
DICER1	Q9UPY3	p.Tyr579Cys	RCV000530577	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116469T>C	ClinVar
DICER1	Q9UPY3	p.Tyr579Cys	rs769034924	missense variant	-	NC_000014.9:g.95116469T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys580Glu	RCV000654390	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116467T>C	ClinVar
DICER1	Q9UPY3	p.Lys580Glu	rs1555372824	missense variant	-	NC_000014.9:g.95116467T>C	-
DICER1	Q9UPY3	p.Ala581Gly	RCV000545455	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116463G>C	ClinVar
DICER1	Q9UPY3	p.Ala581Gly	rs1555372822	missense variant	-	NC_000014.9:g.95116463G>C	-
DICER1	Q9UPY3	p.Ile582Thr	RCV000240873	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116460A>G	ClinVar
DICER1	Q9UPY3	p.Ile582Thr	rs749686370	missense variant	-	NC_000014.9:g.95116460A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu583Ter	RCV000493199	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116454_95116458del	ClinVar
DICER1	Q9UPY3	p.Glu583Ter	RCV000464540	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116458del	ClinVar
DICER1	Q9UPY3	p.Ile585Val	rs1159702656	missense variant	-	NC_000014.9:g.95115821T>C	TOPMed
DICER1	Q9UPY3	p.Asn588Lys	rs1555372652	missense variant	-	NC_000014.9:g.95115810G>T	-
DICER1	Q9UPY3	p.Asn588Thr	rs1251715969	missense variant	-	NC_000014.9:g.95115811T>G	gnomAD
DICER1	Q9UPY3	p.Asn588Lys	RCV000543973	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115810G>T	ClinVar
DICER1	Q9UPY3	p.Lys589Ter	RCV000466596	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115807del	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	RCV000575465	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115805C>A	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	rs1555372646	missense variant	-	NC_000014.9:g.95115805C>A	-
DICER1	Q9UPY3	p.Cys590Phe	RCV000691080	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115805C>A	ClinVar
DICER1	Q9UPY3	p.Ser591Cys	COSM1477878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95115802G>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser591Phe	RCV000558799	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115802G>A	ClinVar
DICER1	Q9UPY3	p.Ser591Ala	rs1406205603	missense variant	-	NC_000014.9:g.95115803A>C	TOPMed
DICER1	Q9UPY3	p.Ser591Phe	rs1555372631	missense variant	-	NC_000014.9:g.95115802G>A	-
DICER1	Q9UPY3	p.Lys592Gln	rs757920193	missense variant	-	NC_000014.9:g.95115800T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser593Leu	rs752424727	missense variant	-	NC_000014.9:g.95115796G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp595Gly	RCV000470722	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115790T>C	ClinVar
DICER1	Q9UPY3	p.Asp595Gly	rs1060503611	missense variant	-	NC_000014.9:g.95115790T>C	gnomAD
DICER1	Q9UPY3	p.Thr596Asn	RCV000573803	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787G>T	ClinVar
DICER1	Q9UPY3	p.Thr596Asn	RCV000226251	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787G>T	ClinVar
DICER1	Q9UPY3	p.Thr596Ile	rs754852266	missense variant	-	NC_000014.9:g.95115787G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr596Ter	RCV000494138	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.del596del	RCV000494138	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.Thr596Ter	RCV000240926	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.del596del	RCV000240926	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.Thr596Asn	rs754852266	missense variant	-	NC_000014.9:g.95115787G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly597Ser	RCV000654411	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115785C>T	ClinVar
DICER1	Q9UPY3	p.Gly597Ser	rs1277436466	missense variant	-	NC_000014.9:g.95115785C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu598Lys	rs753796042	missense variant	-	NC_000014.9:g.95115782C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr599Ala	RCV000654372	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115779T>C	ClinVar
DICER1	Q9UPY3	p.Thr599Ala	rs766492523	missense variant	-	NC_000014.9:g.95115779T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp600Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95115774G>T	NCI-TCGA
DICER1	Q9UPY3	p.Ile601Val	RCV000704838	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115773T>C	ClinVar
DICER1	Q9UPY3	p.Ile601Val	rs564224919	missense variant	-	NC_000014.9:g.95115773T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile601Thr	RCV000654420	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115772A>G	ClinVar
DICER1	Q9UPY3	p.Ile601Thr	rs760966585	missense variant	-	NC_000014.9:g.95115772A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp602Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95115769T>C	NCI-TCGA
DICER1	Q9UPY3	p.Pro603Thr	RCV000474757	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115767G>T	ClinVar
DICER1	Q9UPY3	p.Pro603Thr	rs1060503614	missense variant	-	NC_000014.9:g.95115767G>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val604Ile	rs960381662	missense variant	-	NC_000014.9:g.95115764C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met605Val	RCV000569184	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115761T>C	ClinVar
DICER1	Q9UPY3	p.Met605Thr	rs1249693564	missense variant	-	NC_000014.9:g.95115760A>G	TOPMed
DICER1	Q9UPY3	p.Met605Val	rs759958601	missense variant	-	NC_000014.9:g.95115761T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met605Thr	RCV000654422	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115760A>G	ClinVar
DICER1	Q9UPY3	p.Asp606Gly	rs545651708	missense variant	-	NC_000014.9:g.95115757T>C	1000Genomes
DICER1	Q9UPY3	p.Asp608Gly	RCV000548401	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>C	ClinVar
DICER1	Q9UPY3	p.Asp608Gly	rs1270338113	missense variant	-	NC_000014.9:g.95115751T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp608Val	RCV000698469	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>A	ClinVar
DICER1	Q9UPY3	p.Asp609Tyr	RCV000231934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115749C>A	ClinVar
DICER1	Q9UPY3	p.Asp609Tyr	rs114947750	missense variant	-	NC_000014.9:g.95115749C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.del610del	RCV000240861	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Ter	RCV000240861	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Ile	RCV000654396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>T	ClinVar
DICER1	Q9UPY3	p.Val610Leu	RCV000536557	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>G	ClinVar
DICER1	Q9UPY3	p.Val610Ter	RCV000493528	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.del610del	RCV000493528	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Ile	rs1336108562	missense variant	-	NC_000014.9:g.95115746C>T	gnomAD
DICER1	Q9UPY3	p.Val610Leu	rs1336108562	missense variant	-	NC_000014.9:g.95115746C>G	gnomAD
DICER1	Q9UPY3	p.Phe611SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95115742A>-	NCI-TCGA
DICER1	Q9UPY3	p.Pro613Ser	RCV000456159	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115737G>A	ClinVar
DICER1	Q9UPY3	p.Pro613Ser	rs201553563	missense variant	-	NC_000014.9:g.95115737G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr614Ter	RCV000493225	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115735del	ClinVar
DICER1	Q9UPY3	p.Val615Met	rs1315795741	missense variant	-	NC_000014.9:g.95115731C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val615Leu	rs1315795741	missense variant	-	NC_000014.9:g.95115731C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu616Trp	rs771634025	missense variant	-	NC_000014.9:g.95115727A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro618Arg	rs1555372566	missense variant	-	NC_000014.9:g.95115721G>C	-
DICER1	Q9UPY3	p.Pro618Arg	RCV000654442	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115721G>C	ClinVar
DICER1	Q9UPY3	p.Asp619Gly	rs1426451842	missense variant	-	NC_000014.9:g.95115718T>C	TOPMed
DICER1	Q9UPY3	p.Asp620Tyr	COSM6076801	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95115716C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asp620Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95115716C>T	NCI-TCGA
DICER1	Q9UPY3	p.Gly621Ala	rs1369399401	missense variant	-	NC_000014.9:g.95115712C>G	TOPMed
DICER1	Q9UPY3	p.Gly621Asp	RCV000703553	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115712C>T	ClinVar
DICER1	Q9UPY3	p.Gly622Ser	rs1555372556	missense variant	-	NC_000014.9:g.95115710C>T	-
DICER1	Q9UPY3	p.Gly622Ser	RCV000654431	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115710C>T	ClinVar
DICER1	Q9UPY3	p.Pro623Ser	RCV000539624	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115707G>A	ClinVar
DICER1	Q9UPY3	p.Pro623Ser	rs778668024	missense variant	-	NC_000014.9:g.95115707G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg624Ter	RCV000493744	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Ter	RCV000240902	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Ter	RCV000851400	nonsense	-	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Gln	rs753746305	missense variant	-	NC_000014.9:g.95115703C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg624Gly	rs754818927	missense variant	-	NC_000014.9:g.95115704G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg624Ter	rs754818927	stop gained	-	NC_000014.9:g.95115704G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Val625Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95115700A>C	NCI-TCGA
DICER1	Q9UPY3	p.Thr626Lys	RCV000554505	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115697G>T	ClinVar
DICER1	Q9UPY3	p.Thr626Lys	rs375579739	missense variant	-	NC_000014.9:g.95115697G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.del627del	RCV000240940	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Ter	RCV000240940	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Ter	RCV000494355	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Ter	RCV000482671	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.del627del	RCV000482671	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.del627del	RCV000494355	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Val	rs1312425649	missense variant	-	NC_000014.9:g.95115695T>C	TOPMed
DICER1	Q9UPY3	p.Asn628Ser	RCV000569558	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115691T>C	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	RCV000458073	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115691T>C	ClinVar
DICER1	Q9UPY3	p.Asn628Thr	RCV000761009	missense variant	Diffuse astrocytoma	NC_000014.9:g.95115691T>G	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	rs756051157	missense variant	-	NC_000014.9:g.95115691T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr629Met	RCV000528058	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115688G>A	ClinVar
DICER1	Q9UPY3	p.Thr629Met	RCV000565943	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115688G>A	ClinVar
DICER1	Q9UPY3	p.Thr629Ala	rs1177614630	missense variant	-	NC_000014.9:g.95115689T>C	gnomAD
DICER1	Q9UPY3	p.Thr629Met	rs750410087	missense variant	-	NC_000014.9:g.95115688G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Val	rs878855245	missense variant	-	NC_000014.9:g.95115683T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Val	RCV000229468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115683T>C	ClinVar
DICER1	Q9UPY3	p.Ile631Leu	rs878855245	missense variant	-	NC_000014.9:g.95115683T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Phe	rs878855245	missense variant	-	NC_000014.9:g.95115683T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.His633Leu	rs763129150	missense variant	-	NC_000014.9:g.95115676T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile634Val	rs752853448	missense variant	-	NC_000014.9:g.95115674T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn635Ser	RCV000575691	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115670T>C	ClinVar
DICER1	Q9UPY3	p.Asn635Ser	RCV000654414	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115670T>C	ClinVar
DICER1	Q9UPY3	p.Asn635Ser	rs765551529	missense variant	-	NC_000014.9:g.95115670T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr637Ter	RCV000240903	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113222dup	ClinVar
DICER1	Q9UPY3	p.Tyr637Ter	rs886037682	stop gained	-	NC_000014.9:g.95113222dup	-
DICER1	Q9UPY3	p.Arg640Gly	RCV000654375	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113214T>C	ClinVar
DICER1	Q9UPY3	p.Arg640Gly	rs1555372107	missense variant	-	NC_000014.9:g.95113214T>C	-
DICER1	Q9UPY3	p.Pro642Thr	rs1235554768	missense variant	-	NC_000014.9:g.95113208G>T	gnomAD
DICER1	Q9UPY3	p.Asp644Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95113202C>A	NCI-TCGA
DICER1	Q9UPY3	p.Pro645Leu	rs781253567	missense variant	-	NC_000014.9:g.95113198G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro645Leu	RCV000463332	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113198G>A	ClinVar
DICER1	Q9UPY3	p.Phe646Leu	COSM959272	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95113196A>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Thr647Asn	rs1238144220	missense variant	-	NC_000014.9:g.95113192G>T	gnomAD
DICER1	Q9UPY3	p.Leu649Arg	rs752761725	missense variant	-	NC_000014.9:g.95113186A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro651Ser	rs1315942457	missense variant	-	NC_000014.9:g.95113181G>A	gnomAD
DICER1	Q9UPY3	p.Pro651Ala	rs1315942457	missense variant	-	NC_000014.9:g.95113181G>C	gnomAD
DICER1	Q9UPY3	p.Lys652Thr	RCV000546568	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113177T>G	ClinVar
DICER1	Q9UPY3	p.Lys652Thr	rs755150419	missense variant	-	NC_000014.9:g.95113177T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys652Gln	rs1339343858	missense variant	-	NC_000014.9:g.95113178T>G	TOPMed
DICER1	Q9UPY3	p.Lys652Ile	rs755150419	missense variant	-	NC_000014.9:g.95113177T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Cys653Phe	rs1022513649	missense variant	-	NC_000014.9:g.95113174C>A	TOPMed
DICER1	Q9UPY3	p.Arg654Gly	RCV000552179	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113172T>C	ClinVar
DICER1	Q9UPY3	p.Arg654Gly	rs1555372083	missense variant	-	NC_000014.9:g.95113172T>C	-
DICER1	Q9UPY3	p.Arg654Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95113171C>T	NCI-TCGA
DICER1	Q9UPY3	p.Arg656Ter	RCV000494166	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Gln	RCV000532187	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113165C>T	ClinVar
DICER1	Q9UPY3	p.Arg656Ter	RCV000240942	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Gly	rs754081635	missense variant	-	NC_000014.9:g.95113166G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg656Gln	rs766707302	missense variant	-	NC_000014.9:g.95113165C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg656Ter	RCV000851447	nonsense	-	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Ter	rs754081635	stop gained	-	NC_000014.9:g.95113166G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro659Ser	rs1347537043	missense variant	-	NC_000014.9:g.95113157G>A	gnomAD
DICER1	Q9UPY3	p.Pro659Ser	RCV000566256	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113157G>A	ClinVar
DICER1	Q9UPY3	p.Asp660His	rs773588526	missense variant	-	NC_000014.9:g.95113154C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp660Gly	RCV000654451	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113153T>C	ClinVar
DICER1	Q9UPY3	p.Asp660Gly	RCV000573224	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113153T>C	ClinVar
DICER1	Q9UPY3	p.Asp660Asn	rs773588526	missense variant	-	NC_000014.9:g.95113154C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp660Gly	rs151272381	missense variant	-	NC_000014.9:g.95113153T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr662Ala	rs1163780413	missense variant	-	NC_000014.9:g.95113148T>C	gnomAD
DICER1	Q9UPY3	p.Tyr664Cys	RCV000654426	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113141T>C	ClinVar
DICER1	Q9UPY3	p.Tyr664Cys	rs1555372066	missense variant	-	NC_000014.9:g.95113141T>C	-
DICER1	Q9UPY3	p.Ser665Leu	COSM959271	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95113138G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Leu667Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95113133G>C	NCI-TCGA
DICER1	Q9UPY3	p.Tyr668Asp	RCV000546133	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113130A>C	ClinVar
DICER1	Q9UPY3	p.Tyr668Asp	rs1555372059	missense variant	-	NC_000014.9:g.95113130A>C	-
DICER1	Q9UPY3	p.Ile671Val	RCV000459832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113121T>C	ClinVar
DICER1	Q9UPY3	p.Ile671Val	RCV000565131	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113121T>C	ClinVar
DICER1	Q9UPY3	p.Ile671Val	rs768315203	missense variant	-	NC_000014.9:g.95113121T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn672Lys	rs748905178	missense variant	-	NC_000014.9:g.95113116G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro674Leu	COSM3499494	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95113111G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Pro674Arg	rs775336086	missense variant	-	NC_000014.9:g.95113111G>C	ExAC
DICER1	Q9UPY3	p.Leu675Val	RCV000697938	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113109G>C	ClinVar
DICER1	Q9UPY3	p.Leu675Val	rs1201056619	missense variant	-	NC_000014.9:g.95113109G>C	TOPMed
DICER1	Q9UPY3	p.Arg676Ter	RCV000494079	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	RCV000226155	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Pro	RCV000560799	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113105C>G	ClinVar
DICER1	Q9UPY3	p.Arg676Pro	RCV000562090	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113105C>G	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	RCV000851448	nonsense	-	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Pro	rs892971080	missense variant	-	NC_000014.9:g.95113105C>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg676Ter	rs878855246	stop gained	-	NC_000014.9:g.95113106G>A	-
DICER1	Q9UPY3	p.Arg676Gln	rs892971080	missense variant	-	NC_000014.9:g.95113105C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala677Thr	rs1555372041	missense variant	-	NC_000014.9:g.95113103C>T	-
DICER1	Q9UPY3	p.Ala677Thr	RCV000654364	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113103C>T	ClinVar
DICER1	Q9UPY3	p.Ser678Phe	RCV000230060	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113099G>A	ClinVar
DICER1	Q9UPY3	p.Ser678Ala	rs377269341	missense variant	-	NC_000014.9:g.95113100A>C	ESP
DICER1	Q9UPY3	p.Ser678Phe	RCV000573377	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113099G>A	ClinVar
DICER1	Q9UPY3	p.Ser678Ala	RCV000460461	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113100A>C	ClinVar
DICER1	Q9UPY3	p.Ser678Phe	rs544623004	missense variant	-	NC_000014.9:g.95113099G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile679Val	rs1224940599	missense variant	-	NC_000014.9:g.95113097T>C	gnomAD
DICER1	Q9UPY3	p.Val680Ile	RCV000476569	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113094C>T	ClinVar
DICER1	Q9UPY3	p.Val680Ala	COSM959269	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95113093A>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Val680Ile	RCV000571758	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113094C>T	ClinVar
DICER1	Q9UPY3	p.Val680Ile	rs201883449	missense variant	-	NC_000014.9:g.95113094C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro682Gln	RCV000654376	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112243G>T	ClinVar
DICER1	Q9UPY3	p.Pro682Gln	rs752621393	missense variant	-	NC_000014.9:g.95112243G>T	-
DICER1	Q9UPY3	p.Pro683Arg	RCV000549330	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112240G>C	ClinVar
DICER1	Q9UPY3	p.Pro683Arg	rs373914672	missense variant	-	NC_000014.9:g.95112240G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Thr	rs1319798252	missense variant	-	NC_000014.9:g.95112237A>G	gnomAD
DICER1	Q9UPY3	p.Met684Val	rs142300389	missense variant	-	NC_000014.9:g.95112238T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Thr	RCV000567909	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112237A>G	ClinVar
DICER1	Q9UPY3	p.Met684Leu	rs142300389	missense variant	-	NC_000014.9:g.95112238T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser685Cys	rs1003714112	missense variant	-	NC_000014.9:g.95112235T>A	TOPMed
DICER1	Q9UPY3	p.Ser685Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95112234C>T	NCI-TCGA
DICER1	Q9UPY3	p.Cys686Tyr	rs769510378	missense variant	-	NC_000014.9:g.95112231C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Val687Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95112228A>G	NCI-TCGA
DICER1	Q9UPY3	p.Arg688Ter	RCV000493794	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Ter	RCV000240958	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	RCV000467565	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112225C>T	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	RCV000567747	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112225C>T	ClinVar
DICER1	Q9UPY3	p.Arg688Ter	RCV000384144	nonsense	-	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Leu	rs542398644	missense variant	-	NC_000014.9:g.95112225C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg688Ter	rs886037684	stop gained	-	NC_000014.9:g.95112226G>A	gnomAD
DICER1	Q9UPY3	p.Arg688Gln	rs542398644	missense variant	-	NC_000014.9:g.95112225C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu691Gln	rs1158581801	missense variant	-	NC_000014.9:g.95112217C>G	gnomAD
DICER1	Q9UPY3	p.Arg692Lys	RCV000567897	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112213C>T	ClinVar
DICER1	Q9UPY3	p.Arg692Lys	RCV000685928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112213C>T	ClinVar
DICER1	Q9UPY3	p.Arg692Lys	rs1555371838	missense variant	-	NC_000014.9:g.95112213C>T	-
DICER1	Q9UPY3	p.Val694Ile	rs770652592	missense variant	-	NC_000014.9:g.95112208C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala695Val	COSM3815607	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95112204G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ile697Met	rs746941761	missense variant	-	NC_000014.9:g.95112197A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys699Gly	rs1168346305	missense variant	-	NC_000014.9:g.95112193A>C	gnomAD
DICER1	Q9UPY3	p.Glu700Gly	RCV000526994	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112189T>C	ClinVar
DICER1	Q9UPY3	p.Glu700Gly	rs376691754	missense variant	-	NC_000014.9:g.95112189T>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu702Val	rs1555371818	missense variant	-	NC_000014.9:g.95112184G>C	-
DICER1	Q9UPY3	p.Leu702Val	RCV000537187	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112184G>C	ClinVar
DICER1	Q9UPY3	p.Lys704Arg	RCV000692763	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112177T>C	ClinVar
DICER1	Q9UPY3	p.Lys704Arg	RCV000575302	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112177T>C	ClinVar
DICER1	Q9UPY3	p.Lys704Arg	rs749428279	missense variant	-	NC_000014.9:g.95112177T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile705Val	rs752868874	missense variant	-	NC_000014.9:g.95112175T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu707Lys	RCV000792504	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111454C>T	ClinVar
DICER1	Q9UPY3	p.Glu707Lys	rs1555371642	missense variant	-	NC_000014.9:g.95111454C>T	-
DICER1	Q9UPY3	p.Glu707Lys	RCV000562699	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111454C>T	ClinVar
DICER1	Q9UPY3	p.Pro714Thr	rs911090648	missense variant	-	NC_000014.9:g.95111433G>T	TOPMed
DICER1	Q9UPY3	p.Val715Phe	rs1254898247	missense variant	-	NC_000014.9:g.95111430C>A	gnomAD
DICER1	Q9UPY3	p.Glu718Asp	RCV000570251	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111419C>G	ClinVar
DICER1	Q9UPY3	p.Glu718Asp	RCV000540972	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111419C>G	ClinVar
DICER1	Q9UPY3	p.Glu718Asp	rs1555371628	missense variant	-	NC_000014.9:g.95111419C>G	-
DICER1	Q9UPY3	p.Thr719Ter	RCV000493808	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111415_95111416del	ClinVar
DICER1	Q9UPY3	p.Thr719Ter	RCV000240883	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111415_95111416del	ClinVar
DICER1	Q9UPY3	p.Thr719Ser	rs1342513692	missense variant	-	NC_000014.9:g.95111417G>C	gnomAD
DICER1	Q9UPY3	p.Asp727Gly	rs997546722	missense variant	-	NC_000014.9:g.95111393T>C	-
DICER1	Q9UPY3	p.Leu728Phe	rs1376232943	missense variant	-	NC_000014.9:g.95111389C>G	TOPMed
DICER1	Q9UPY3	p.His729Arg	RCV000468577	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111387T>C	ClinVar
DICER1	Q9UPY3	p.His729Arg	rs748084431	missense variant	-	NC_000014.9:g.95111387T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp730PheAlaTer	RCV000494351	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111386_95111392dup	ClinVar
DICER1	Q9UPY3	p.Asp730Gly	rs780069801	missense variant	-	NC_000014.9:g.95111384T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu731Lys	RCV000460175	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111382C>T	ClinVar
DICER1	Q9UPY3	p.Glu732Gly	rs1555371605	missense variant	-	NC_000014.9:g.95111378T>C	-
DICER1	Q9UPY3	p.Glu732Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95111379C>A	NCI-TCGA
DICER1	Q9UPY3	p.Glu732Gly	RCV000654457	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111378T>C	ClinVar
DICER1	Q9UPY3	p.Thr734Ser	RCV000467449	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111372G>C	ClinVar
DICER1	Q9UPY3	p.Thr734Ter	RCV000555693	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111374_95111375CT[3]	ClinVar
DICER1	Q9UPY3	p.Thr734Ser	rs781312991	missense variant	-	NC_000014.9:g.95111372G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser735Gly	rs1039684913	missense variant	-	NC_000014.9:g.95111370T>C	-
DICER1	Q9UPY3	p.Pro737Leu	COSM3499493	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95111363G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Pro737Ala	rs778284198	missense variant	-	NC_000014.9:g.95111364G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro737Ser	rs778284198	missense variant	-	NC_000014.9:g.95111364G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser742Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95111349A>T	NCI-TCGA
DICER1	Q9UPY3	p.Thr743Met	RCV000471984	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111345G>A	ClinVar
DICER1	Q9UPY3	p.Thr743Met	rs758932000	missense variant	-	NC_000014.9:g.95111345G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg745Ter	RCV000459736	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111340G>A	ClinVar
DICER1	Q9UPY3	p.Arg745Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95111339C>T	NCI-TCGA
DICER1	Q9UPY3	p.Arg745Ter	rs1060503584	stop gained	-	NC_000014.9:g.95111340G>A	-
DICER1	Q9UPY3	p.Arg746Gly	RCV000240921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111337T>C	ClinVar
DICER1	Q9UPY3	p.Arg746Gly	rs886037686	missense variant	-	NC_000014.9:g.95111337T>C	-
DICER1	Q9UPY3	p.Cys748Ter	RCV000240962	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000240899	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330insTAGT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000494492	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	rs886037687	stop gained	-	NC_000014.9:g.95111329_95111330delinsTT	-
DICER1	Q9UPY3	p.Cys748TerLeuUnk	rs886037688	stop gained	-	NC_000014.9:g.95111329_95111330insTAGT	-
DICER1	Q9UPY3	p.Tyr749Ter	RCV000493504	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	RCV000240935	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	RCV000480985	nonsense	-	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Phe	RCV000556009	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111327T>A	ClinVar
DICER1	Q9UPY3	p.Tyr749Phe	rs1309961626	missense variant	-	NC_000014.9:g.95111327T>A	TOPMed
DICER1	Q9UPY3	p.Tyr749Ter	rs886037689	stop gained	-	NC_000014.9:g.95111326G>T	-
DICER1	Q9UPY3	p.Pro750Arg	RCV000226942	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111324G>C	ClinVar
DICER1	Q9UPY3	p.Pro750Ter	RCV000541292	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326_95111329dup	ClinVar
DICER1	Q9UPY3	p.Pro750Arg	rs878855249	missense variant	-	NC_000014.9:g.95111324G>C	-
DICER1	Q9UPY3	p.Glu755Lys	RCV000561928	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108497C>T	ClinVar
DICER1	Q9UPY3	p.Glu755Lys	rs1555370957	missense variant	-	NC_000014.9:g.95108497C>T	-
DICER1	Q9UPY3	p.Leu757Val	RCV000654402	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108491A>C	ClinVar
DICER1	Q9UPY3	p.Leu757Val	rs1555370956	missense variant	-	NC_000014.9:g.95108491A>C	-
DICER1	Q9UPY3	p.Asp759Val	rs1288856698	missense variant	-	NC_000014.9:g.95108484T>A	TOPMed
DICER1	Q9UPY3	p.Ser760Asn	RCV000471625	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108481C>T	ClinVar
DICER1	Q9UPY3	p.Ser760Arg	rs761639070	missense variant	-	NC_000014.9:g.95108482T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser760Asn	rs1060503621	missense variant	-	NC_000014.9:g.95108481C>T	-
DICER1	Q9UPY3	p.Arg763Lys	COSM4820787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108472C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg763Thr	RCV000544525	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108472C>G	ClinVar
DICER1	Q9UPY3	p.Arg763Thr	rs774344152	missense variant	-	NC_000014.9:g.95108472C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro764Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95108470G>A	NCI-TCGA
DICER1	Q9UPY3	p.Gln766Arg	rs940468676	missense variant	-	NC_000014.9:g.95108463T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln766Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95108464G>T	NCI-TCGA
DICER1	Q9UPY3	p.Pro767Ser	rs1283309784	missense variant	-	NC_000014.9:g.95108461G>A	TOPMed
DICER1	Q9UPY3	p.Pro767His	rs764001016	missense variant	-	NC_000014.9:g.95108460G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr769Ter	rs776530416	stop gained	-	NC_000014.9:g.95108453G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Val776Gly	rs1060503618	missense variant	-	NC_000014.9:g.95108433A>C	-
DICER1	Q9UPY3	p.Val776Gly	RCV000463888	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108433A>C	ClinVar
DICER1	Q9UPY3	p.Val776Phe	COSM433549	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108434C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Thr779Ala	rs1555370931	missense variant	-	NC_000014.9:g.95108425T>C	-
DICER1	Q9UPY3	p.Thr779Ala	RCV000543737	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108425T>C	ClinVar
DICER1	Q9UPY3	p.Pro780Leu	COSM699747	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108421G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu784Ter	RCV000493374	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108410C>A	ClinVar
DICER1	Q9UPY3	p.Glu784Ter	rs1131691210	stop gained	-	NC_000014.9:g.95108410C>A	-
DICER1	Q9UPY3	p.Phe787Leu	rs367950170	missense variant	-	NC_000014.9:g.95108399A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg789Lys	RCV000703508	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108394C>T	ClinVar
DICER1	Q9UPY3	p.Arg790Gln	rs762784970	missense variant	-	NC_000014.9:g.95108391C>T	-
DICER1	Q9UPY3	p.Lys791Arg	rs748518606	missense variant	-	NC_000014.9:g.95108388T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu792Ter	RCV000654467	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108388_95108391dup	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	RCV000566994	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108382T>C	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	RCV000463608	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108382T>C	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	rs527568726	missense variant	-	NC_000014.9:g.95108382T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro794Ser	RCV000462319	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108380G>A	ClinVar
DICER1	Q9UPY3	p.Pro794Ser	rs1060503620	missense variant	-	NC_000014.9:g.95108380G>A	-
DICER1	Q9UPY3	p.Asp797Gly	rs755375348	missense variant	-	NC_000014.9:g.95108370T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp797Gly	RCV000546389	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108370T>C	ClinVar
DICER1	Q9UPY3	p.Asp797Gly	RCV000563012	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108370T>C	ClinVar
DICER1	Q9UPY3	p.Thr798Ter	RCV000240963	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.del798del	RCV000240963	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Thr798Ter	RCV000493145	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.del798del	RCV000493145	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Thr798Ala	rs1191387730	missense variant	-	NC_000014.9:g.95108368T>C	gnomAD
DICER1	Q9UPY3	p.Arg800Gly	RCV000564417	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108362T>C	ClinVar
DICER1	Q9UPY3	p.Arg800Ter	RCV000493596	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108361del	ClinVar
DICER1	Q9UPY3	p.Arg800Gly	rs1555370905	missense variant	-	NC_000014.9:g.95108362T>C	-
DICER1	Q9UPY3	p.Cys801Gly	RCV000463309	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108359A>C	ClinVar
DICER1	Q9UPY3	p.Cys801Gly	rs1060503599	missense variant	-	NC_000014.9:g.95108359A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr806Met	RCV000467724	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108343G>A	ClinVar
DICER1	Q9UPY3	p.Thr806Met	rs749834289	missense variant	-	NC_000014.9:g.95108343G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys808Ile	rs1232785791	missense variant	-	NC_000014.9:g.95108337T>A	gnomAD
DICER1	Q9UPY3	p.Lys808Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95108337T>G	NCI-TCGA
DICER1	Q9UPY3	p.Ile810Val	RCV000566847	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108332T>C	ClinVar
DICER1	Q9UPY3	p.Ile810Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95108331A>G	NCI-TCGA
DICER1	Q9UPY3	p.Ile810Val	rs1555370881	missense variant	-	NC_000014.9:g.95108332T>C	-
DICER1	Q9UPY3	p.Pro811His	COSM4053290	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108328G>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Gln812Arg	RCV000556511	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108325T>C	ClinVar
DICER1	Q9UPY3	p.Gln812Arg	rs750049051	missense variant	-	NC_000014.9:g.95108325T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln812Pro	rs750049051	missense variant	-	NC_000014.9:g.95108325T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile813Val	rs1354652606	missense variant	-	NC_000014.9:g.95108093T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile813Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95108092A>C	NCI-TCGA
DICER1	Q9UPY3	p.Phe816IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95108084_95108085insCCTTGAAGAT	NCI-TCGA
DICER1	Q9UPY3	p.Pro817Ala	rs774540239	missense variant	-	NC_000014.9:g.95108081G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr819His	RCV000562879	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108075A>G	ClinVar
DICER1	Q9UPY3	p.Tyr819His	rs1238286921	missense variant	-	NC_000014.9:g.95108075A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr826Ala	rs1328529319	missense variant	-	NC_000014.9:g.95108054T>C	TOPMed
DICER1	Q9UPY3	p.Ser828Phe	COSM3499492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108047G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ile829Thr	RCV000654378	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108044A>G	ClinVar
DICER1	Q9UPY3	p.Ile829Val	RCV000654368	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108045T>C	ClinVar
DICER1	Q9UPY3	p.Ile829Val	rs1038939677	missense variant	-	NC_000014.9:g.95108045T>C	TOPMed
DICER1	Q9UPY3	p.Ile829Thr	rs1555370828	missense variant	-	NC_000014.9:g.95108044A>G	-
DICER1	Q9UPY3	p.Lys832Glu	RCV000465553	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
DICER1	Q9UPY3	p.Lys832Glu	RCV000765198	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
DICER1	Q9UPY3	p.Lys832Asn	RCV000340356	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95108034C>G	ClinVar
DICER1	Q9UPY3	p.Lys832Asn	rs769292296	missense variant	-	NC_000014.9:g.95108034C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys832Glu	rs1060503613	missense variant	-	NC_000014.9:g.95108036T>C	-
DICER1	Q9UPY3	p.Lys832Arg	rs780581268	missense variant	-	NC_000014.9:g.95108035T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Phe836Ter	RCV000476393	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108022_95108023del	ClinVar
DICER1	Q9UPY3	p.Phe836Val	RCV000689913	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108024A>C	ClinVar
DICER1	Q9UPY3	p.Met837Ile	rs1360646143	missense variant	-	NC_000014.9:g.95108019C>A	gnomAD
DICER1	Q9UPY3	p.Leu838Val	rs745444772	missense variant	-	NC_000014.9:g.95108018A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser839Phe	RCV000023526	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	ClinVar
DICER1	Q9UPY3	p.Ser839Phe	rs387906934	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt,dbSNP
DICER1	Q9UPY3	p.Ser839Phe	VAR_065301	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt
DICER1	Q9UPY3	p.Ser839Phe	rs387906934	missense variant	-	NC_000014.9:g.95108014G>A	-
DICER1	Q9UPY3	p.Gln841Arg	RCV000706036	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108008T>C	ClinVar
DICER1	Q9UPY3	p.Gln841Arg	rs1417502290	missense variant	-	NC_000014.9:g.95108008T>C	gnomAD
DICER1	Q9UPY3	p.Leu843Phe	RCV000561754	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108003G>A	ClinVar
DICER1	Q9UPY3	p.Leu843Phe	rs1555370815	missense variant	-	NC_000014.9:g.95108003G>A	-
DICER1	Q9UPY3	p.Leu845Val	RCV000654374	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107997A>C	ClinVar
DICER1	Q9UPY3	p.Leu845Val	rs1182299033	missense variant	-	NC_000014.9:g.95107997A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile846Val	RCV000765197	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	RCV000560280	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	RCV000566427	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	rs201212908	missense variant	-	NC_000014.9:g.95107994T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr847Ala	RCV000462537	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107991T>C	ClinVar
DICER1	Q9UPY3	p.Thr847Ala	rs1060503641	missense variant	-	NC_000014.9:g.95107991T>C	-
DICER1	Q9UPY3	p.Arg848Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95107987C>A	NCI-TCGA
DICER1	Q9UPY3	p.Tyr852Cys	RCV000562908	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107975T>C	ClinVar
DICER1	Q9UPY3	p.Tyr852Cys	rs1555370802	missense variant	-	NC_000014.9:g.95107975T>C	-
DICER1	Q9UPY3	p.Ile853Val	RCV000563365	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107973T>C	ClinVar
DICER1	Q9UPY3	p.Ile853Val	rs61729795	missense variant	-	NC_000014.9:g.95107973T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe854Leu	RCV000654423	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107968G>T	ClinVar
DICER1	Q9UPY3	p.Phe854Leu	rs1555370794	missense variant	-	NC_000014.9:g.95107968G>T	-
DICER1	Q9UPY3	p.Ile857Val	rs567006441	missense variant	-	NC_000014.9:g.95107961T>C	gnomAD
DICER1	Q9UPY3	p.Ile857Thr	rs1290998883	missense variant	-	NC_000014.9:g.95107960A>G	gnomAD
DICER1	Q9UPY3	p.Arg859Gln	rs765333464	missense variant	-	NC_000014.9:g.95107954C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg859Trp	rs144649926	missense variant	-	NC_000014.9:g.95107955G>A	ESP,gnomAD
DICER1	Q9UPY3	p.Arg859Trp	RCV000231736	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107955G>A	ClinVar
DICER1	Q9UPY3	p.Ala864Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95107940C>T	NCI-TCGA
DICER1	Q9UPY3	p.Thr870Ala	RCV000686840	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107922T>C	ClinVar
DICER1	Q9UPY3	p.Asp871Val	RCV000528728	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107918T>A	ClinVar
DICER1	Q9UPY3	p.Asp871Glu	rs759827733	missense variant	-	NC_000014.9:g.95107917G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp871Val	rs1555370776	missense variant	-	NC_000014.9:g.95107918T>A	-
DICER1	Q9UPY3	p.Ala872Thr	RCV000226630	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107916C>T	ClinVar
DICER1	Q9UPY3	p.Ala872Thr	rs149242330	missense variant	-	NC_000014.9:g.95107916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp873His	RCV000570993	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107913C>G	ClinVar
DICER1	Q9UPY3	p.Asp873Gly	rs1555370765	missense variant	-	NC_000014.9:g.95107912T>C	-
DICER1	Q9UPY3	p.Asp873His	rs774672421	missense variant	-	NC_000014.9:g.95107913C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp873His	RCV000477212	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107913C>G	ClinVar
DICER1	Q9UPY3	p.Asp873Gly	RCV000538878	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107912T>C	ClinVar
DICER1	Q9UPY3	p.Ala875Ser	RCV000549111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107907C>A	ClinVar
DICER1	Q9UPY3	p.Ala875Ser	rs1555370761	missense variant	-	NC_000014.9:g.95107907C>A	-
DICER1	Q9UPY3	p.Tyr876Cys	rs1165182865	missense variant	-	NC_000014.9:g.95107903T>C	gnomAD
DICER1	Q9UPY3	p.Cys877Ser	rs1411395826	missense variant	-	NC_000014.9:g.95107901A>T	gnomAD
DICER1	Q9UPY3	p.Pro880Leu	rs1456764595	missense variant	-	NC_000014.9:g.95107891G>A	TOPMed
DICER1	Q9UPY3	p.Leu881Val	rs1293281390	missense variant	-	NC_000014.9:g.95107889G>C	TOPMed
DICER1	Q9UPY3	p.Asn882Asp	RCV000693049	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107886T>C	ClinVar
DICER1	Q9UPY3	p.Val883Ile	RCV000654399	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107883C>T	ClinVar
DICER1	Q9UPY3	p.Val883Ile	rs1407338094	missense variant	-	NC_000014.9:g.95107883C>T	TOPMed
DICER1	Q9UPY3	p.Val883Ala	rs1164049706	missense variant	-	NC_000014.9:g.95107882A>G	gnomAD
DICER1	Q9UPY3	p.Ser887Phe	RCV000542681	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>A	ClinVar
DICER1	Q9UPY3	p.Ser887Pro	RCV000228429	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107753A>G	ClinVar
DICER1	Q9UPY3	p.Ser887Tyr	rs139441077	missense variant	-	NC_000014.9:g.95107752G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser887Tyr	RCV000654456	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>T	ClinVar
DICER1	Q9UPY3	p.Ser887Phe	RCV000575011	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107752G>A	ClinVar
DICER1	Q9UPY3	p.Ser887Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95107752G>C	NCI-TCGA
DICER1	Q9UPY3	p.Ser887Pro	rs878855251	missense variant	-	NC_000014.9:g.95107753A>G	TOPMed
DICER1	Q9UPY3	p.Ser887Phe	rs139441077	missense variant	-	NC_000014.9:g.95107752G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp891Gly	rs1228272276	missense variant	-	NC_000014.9:g.95107740T>C	gnomAD
DICER1	Q9UPY3	p.Asp893Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95107735C>T	NCI-TCGA
DICER1	Q9UPY3	p.Phe894Leu	RCV000552892	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107730A>C	ClinVar
DICER1	Q9UPY3	p.Phe894Leu	rs760009604	missense variant	-	NC_000014.9:g.95107730A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met897Val	RCV000458127	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107723T>C	ClinVar
DICER1	Q9UPY3	p.Met897Val	rs373729361	missense variant	-	NC_000014.9:g.95107723T>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ile900Leu	rs1302387713	missense variant	-	NC_000014.9:g.95107714T>G	gnomAD
DICER1	Q9UPY3	p.Ile900Thr	rs777174247	missense variant	-	NC_000014.9:g.95107713A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys902Glu	rs1402233762	missense variant	-	NC_000014.9:g.95107708T>C	gnomAD
DICER1	Q9UPY3	p.Lys902Arg	rs1377401799	missense variant	-	NC_000014.9:g.95107707T>C	gnomAD
DICER1	Q9UPY3	p.Arg906His	RCV000232332	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>T	ClinVar
DICER1	Q9UPY3	p.Arg906Leu	rs150510758	missense variant	-	NC_000014.9:g.95107695C>A	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906His	rs150510758	missense variant	-	NC_000014.9:g.95107695C>T	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906Leu	RCV000531168	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>A	ClinVar
DICER1	Q9UPY3	p.Arg906Cys	RCV000654400	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107696G>A	ClinVar
DICER1	Q9UPY3	p.Arg906Cys	rs770335698	missense variant	-	NC_000014.9:g.95107696G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Thr	RCV000574505	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000472819	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000761114	missense variant	Acute megakaryoblastic leukemia	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	rs200408568	missense variant	-	NC_000014.9:g.95107692A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Val	rs1178414622	missense variant	-	NC_000014.9:g.95107693T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Arg	rs200408568	missense variant	-	NC_000014.9:g.95107692A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95107693T>A	NCI-TCGA
DICER1	Q9UPY3	p.Ile907Leu	rs1178414622	missense variant	-	NC_000014.9:g.95107693T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly908Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95107689C>A	NCI-TCGA
DICER1	Q9UPY3	p.Gly908Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95107689C>T	NCI-TCGA
DICER1	Q9UPY3	p.Ile909Val	RCV000697264	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107687T>C	ClinVar
DICER1	Q9UPY3	p.Ile909Val	rs1167073557	missense variant	-	NC_000014.9:g.95107687T>C	TOPMed
DICER1	Q9UPY3	p.Ser911Asn	RCV000555481	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107680C>T	ClinVar
DICER1	Q9UPY3	p.Ser911Ile	COSM280383	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95107680C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser911Asn	rs771697618	missense variant	-	NC_000014.9:g.95107680C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys913Thr	RCV000472190	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107674T>G	ClinVar
DICER1	Q9UPY3	p.Lys913Arg	rs1060503649	missense variant	-	NC_000014.9:g.95107674T>C	gnomAD
DICER1	Q9UPY3	p.Lys913Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95107673C>G	NCI-TCGA
DICER1	Q9UPY3	p.Lys913Thr	rs1060503649	missense variant	-	NC_000014.9:g.95107674T>G	gnomAD
DICER1	Q9UPY3	p.Tyr914Cys	RCV000699754	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107671T>C	ClinVar
DICER1	Q9UPY3	p.Thr915Ala	RCV000529269	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107669T>C	ClinVar
DICER1	Q9UPY3	p.Thr915Ala	rs1179517249	missense variant	-	NC_000014.9:g.95107669T>C	gnomAD
DICER1	Q9UPY3	p.Lys916Thr	rs747825442	missense variant	-	NC_000014.9:g.95107665T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.del917del	RCV000494012	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.Glu917Ter	RCV000494012	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.del917del	RCV000240925	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.Glu917Ter	RCV000240925	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.Glu917Ter	rs886037692	stop gained	-	NC_000014.9:g.95107663C>A	-
DICER1	Q9UPY3	p.Thr918Ser	RCV000572375	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107660T>A	ClinVar
DICER1	Q9UPY3	p.Thr918Ser	rs377326167	missense variant	-	NC_000014.9:g.95107660T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr918Ser	RCV000229873	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107660T>A	ClinVar
DICER1	Q9UPY3	p.Thr918Ala	rs377326167	missense variant	-	NC_000014.9:g.95107660T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val921Phe	COSM6076803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95107651C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Lys923Gln	rs1357513890	missense variant	-	NC_000014.9:g.95107645T>G	TOPMed
DICER1	Q9UPY3	p.Asp926His	RCV000460548	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107636C>G	ClinVar
DICER1	Q9UPY3	p.Asp926His	rs1060503645	missense variant	-	NC_000014.9:g.95107636C>G	-
DICER1	Q9UPY3	p.Val931Ile	rs1256068472	missense variant	-	NC_000014.9:g.95107621C>T	gnomAD
DICER1	Q9UPY3	p.Pro934Leu	rs1211667485	missense variant	-	NC_000014.9:g.95107611G>A	gnomAD
DICER1	Q9UPY3	p.Arg935Lys	rs757277030	missense variant	-	NC_000014.9:g.95107608C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg937His	COSM5453158	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95106218C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg937Cys	rs1354833117	missense variant	-	NC_000014.9:g.95106219G>A	gnomAD
DICER1	Q9UPY3	p.Gln941Glu	RCV000467203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106207G>C	ClinVar
DICER1	Q9UPY3	p.Gln941Glu	rs1060503588	missense variant	-	NC_000014.9:g.95106207G>C	-
DICER1	Q9UPY3	p.Arg944Ter	RCV000240862	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	RCV000004727	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	RCV000493701	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Gln	RCV000654383	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106197C>T	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	rs137852978	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95106198G>A	-
DICER1	Q9UPY3	p.Arg944Gln	rs1555370340	missense variant	-	NC_000014.9:g.95106197C>T	-
DICER1	Q9UPY3	p.Asp949Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95106183C>A	NCI-TCGA
DICER1	Q9UPY3	p.Tyr951His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95106177A>G	NCI-TCGA
DICER1	Q9UPY3	p.Thr952Ala	RCV000467314	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106174T>C	ClinVar
DICER1	Q9UPY3	p.Thr952Ser	RCV000566505	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106174T>A	ClinVar
DICER1	Q9UPY3	p.Thr952Ser	rs1060503636	missense variant	-	NC_000014.9:g.95106174T>A	TOPMed
DICER1	Q9UPY3	p.Thr952Ala	rs1060503636	missense variant	-	NC_000014.9:g.95106174T>C	TOPMed
DICER1	Q9UPY3	p.Asp953Asn	rs745810853	missense variant	-	NC_000014.9:g.95106171C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu954Phe	rs1458698147	missense variant	-	NC_000014.9:g.95106168G>A	gnomAD
DICER1	Q9UPY3	p.Thr955Ter	RCV000240900	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
DICER1	Q9UPY3	p.del955del	RCV000240900	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
DICER1	Q9UPY3	p.Thr955Ile	rs1167965153	missense variant	-	NC_000014.9:g.95106164G>A	TOPMed
DICER1	Q9UPY3	p.Pro956Ter	RCV000240927	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
DICER1	Q9UPY3	p.del956del	RCV000240927	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
DICER1	Q9UPY3	p.Leu957Phe	RCV000466824	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159G>A	ClinVar
DICER1	Q9UPY3	p.Leu957Phe	rs1060503634	missense variant	-	NC_000014.9:g.95106159G>A	-
DICER1	Q9UPY3	p.Ser958Gly	RCV000562549	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106156T>C	ClinVar
DICER1	Q9UPY3	p.Ser958Gly	RCV000226550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106156T>C	ClinVar
DICER1	Q9UPY3	p.Ser958Gly	rs752905540	missense variant	-	NC_000014.9:g.95106156T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys959Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95106152T>A	NCI-TCGA
DICER1	Q9UPY3	p.Lys959Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95106152T>G	NCI-TCGA
DICER1	Q9UPY3	p.Phe960Cys	COSM959264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95106149A>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Pro963Ter	RCV000240864	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.del963del	RCV000240864	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.del963del	RCV000494157	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.Pro963Ter	RCV000494157	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.Pro963Leu	rs917082902	missense variant	-	NC_000014.9:g.95106140G>A	TOPMed
DICER1	Q9UPY3	p.Ala969Val	RCV000233100	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106122G>A	ClinVar
DICER1	Q9UPY3	p.Ala969Val	rs878855253	missense variant	-	NC_000014.9:g.95106122G>A	-
DICER1	Q9UPY3	p.Glu970Gln	RCV000572780	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106120C>G	ClinVar
DICER1	Q9UPY3	p.Glu970Gln	rs1555370302	missense variant	-	NC_000014.9:g.95106120C>G	-
DICER1	Q9UPY3	p.Lys973Asn	rs1555370297	missense variant	-	NC_000014.9:g.95106109T>G	-
DICER1	Q9UPY3	p.Lys973Asn	RCV000533030	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106109T>G	ClinVar
DICER1	Q9UPY3	p.Asn977Ser	rs1227283210	missense variant	-	NC_000014.9:g.95106098T>C	TOPMed
DICER1	Q9UPY3	p.Leu978Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95106095A>C	NCI-TCGA
DICER1	Q9UPY3	p.Asn982Lys	RCV000462016	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106082A>T	ClinVar
DICER1	Q9UPY3	p.Asn982Ser	RCV000696284	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106083T>C	ClinVar
DICER1	Q9UPY3	p.Asn982Lys	rs1060503631	missense variant	-	NC_000014.9:g.95106082A>T	-
DICER1	Q9UPY3	p.Asn982Ser	rs1376668585	missense variant	-	NC_000014.9:g.95106083T>C	gnomAD
DICER1	Q9UPY3	p.Leu983Val	rs1267003109	missense variant	-	NC_000014.9:g.95106081G>C	gnomAD
DICER1	Q9UPY3	p.Leu983Phe	rs1267003109	missense variant	-	NC_000014.9:g.95106081G>A	gnomAD
DICER1	Q9UPY3	p.Leu983Pro	rs766675570	missense variant	-	NC_000014.9:g.95106080A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu983Arg	rs766675570	missense variant	-	NC_000014.9:g.95106080A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn984Ser	RCV000465498	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106077T>C	ClinVar
DICER1	Q9UPY3	p.Asn984Ser	RCV000563512	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106077T>C	ClinVar
DICER1	Q9UPY3	p.Asn984Thr	rs750932552	missense variant	-	NC_000014.9:g.95106077T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn984Ser	rs750932552	missense variant	-	NC_000014.9:g.95106077T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln985Ter	RCV000468167	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106076del	ClinVar
DICER1	Q9UPY3	p.Gln985Ter	RCV000654466	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106073delinsAA	ClinVar
DICER1	Q9UPY3	p.Val990Met	rs1443445976	missense variant	-	NC_000014.9:g.95106060C>T	gnomAD
DICER1	Q9UPY3	p.Thr993Ile	COSM959263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95106050G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Thr1001Ile	rs756484303	missense variant	-	NC_000014.9:g.95105769G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1003Ter	RCV000465236	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105764G>A	ClinVar
DICER1	Q9UPY3	p.Arg1003Ter	RCV000851456	nonsense	-	NC_000014.9:g.95105764G>A	ClinVar
DICER1	Q9UPY3	p.Arg1003Gln	COSM2253693	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105763C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg1003Ter	rs1060503605	stop gained	-	NC_000014.9:g.95105764G>A	gnomAD
DICER1	Q9UPY3	p.Gln1007Ter	RCV000492911	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105752G>A	ClinVar
DICER1	Q9UPY3	p.Gln1007Ter	RCV000524088	nonsense	-	NC_000014.9:g.95105752G>A	ClinVar
DICER1	Q9UPY3	p.Gln1007Ter	rs1131691189	stop gained	-	NC_000014.9:g.95105752G>A	-
DICER1	Q9UPY3	p.Lys1008Asn	rs750927764	missense variant	-	NC_000014.9:g.95105747C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1011Val	rs772243498	missense variant	-	NC_000014.9:g.95105739G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1011Val	RCV000654436	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105739G>A	ClinVar
DICER1	Q9UPY3	p.Pro1013Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95105734G>T	NCI-TCGA
DICER1	Q9UPY3	p.Pro1013Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95105734G>A	NCI-TCGA
DICER1	Q9UPY3	p.Ser1016Asn	RCV000689357	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105724C>T	ClinVar
DICER1	Q9UPY3	p.Lys1023Arg	rs762411266	missense variant	-	NC_000014.9:g.95105703T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Trp1024Leu	rs751053813	missense variant	-	NC_000014.9:g.95105700C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1025Ter	RCV000493873	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105698C>A	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	RCV000521958	nonsense	-	NC_000014.9:g.95105698C>A	ClinVar
DICER1	Q9UPY3	p.Glu1025Gly	RCV000537842	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105697T>C	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	rs1131691225	stop gained	-	NC_000014.9:g.95105698C>A	-
DICER1	Q9UPY3	p.Glu1025Gly	rs1191384264	missense variant	-	NC_000014.9:g.95105697T>C	gnomAD
DICER1	Q9UPY3	p.Ser1026Gly	rs763715930	missense variant	-	NC_000014.9:g.95105695T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1028Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95105689G>A	NCI-TCGA
DICER1	Q9UPY3	p.Gln1028Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95105688T>A	NCI-TCGA
DICER1	Q9UPY3	p.Lys1030Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95105683T>C	NCI-TCGA
DICER1	Q9UPY3	p.Glu1036Lys	rs749392411	missense variant	-	NC_000014.9:g.95105234C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1039Asp	COSM959262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105224G>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ala1039Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95105224G>C	NCI-TCGA
DICER1	Q9UPY3	p.Ile1040Val	RCV000685635	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105222T>C	ClinVar
DICER1	Q9UPY3	p.Ile1040Val	RCV000497463	missense variant	-	NC_000014.9:g.95105222T>C	ClinVar
DICER1	Q9UPY3	p.Ile1040Val	rs1555370052	missense variant	-	NC_000014.9:g.95105222T>C	-
DICER1	Q9UPY3	p.Ile1040Met	rs1195908211	missense variant	-	NC_000014.9:g.95105220T>C	TOPMed
DICER1	Q9UPY3	p.Pro1042Ser	RCV000561799	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105216G>A	ClinVar
DICER1	Q9UPY3	p.Pro1042Ser	rs1555370050	missense variant	-	NC_000014.9:g.95105216G>A	-
DICER1	Q9UPY3	p.Ile1043Val	RCV000465152	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105213T>C	ClinVar
DICER1	Q9UPY3	p.Ile1043Val	RCV000564082	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105213T>C	ClinVar
DICER1	Q9UPY3	p.Ile1043Val	rs1060503592	missense variant	-	NC_000014.9:g.95105213T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1045Pro	RCV000230898	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105207C>G	ClinVar
DICER1	Q9UPY3	p.Ala1045Pro	rs878855255	missense variant	-	NC_000014.9:g.95105207C>G	-
DICER1	Q9UPY3	p.Ser1046Ter	RCV000240905	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
DICER1	Q9UPY3	p.del1046del	RCV000240905	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
DICER1	Q9UPY3	p.Leu1054Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95105180G>A	NCI-TCGA
DICER1	Q9UPY3	p.Leu1054Pro	RCV000691310	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105179A>G	ClinVar
DICER1	Q9UPY3	p.Pro1055Leu	rs1413756805	missense variant	-	NC_000014.9:g.95105176G>A	gnomAD
DICER1	Q9UPY3	p.Ile1057Val	rs769846317	missense variant	-	NC_000014.9:g.95105171T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1057Met	rs976698124	missense variant	-	NC_000014.9:g.95105169T>C	TOPMed
DICER1	Q9UPY3	p.Leu1058Ile	RCV000558190	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105168G>T	ClinVar
DICER1	Q9UPY3	p.Leu1058Ile	rs1555370024	missense variant	-	NC_000014.9:g.95105168G>T	-
DICER1	Q9UPY3	p.Tyr1059Ter	RCV000240943	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105167dup	ClinVar
DICER1	Q9UPY3	p.Arg1060Cys	RCV000498545	missense variant	-	NC_000014.9:g.95105162G>A	ClinVar
DICER1	Q9UPY3	p.Arg1060Cys	rs1555370020	missense variant	-	NC_000014.9:g.95105162G>A	-
DICER1	Q9UPY3	p.Arg1060Leu	RCV000687493	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105161C>A	ClinVar
DICER1	Q9UPY3	p.His1062Arg	rs1398724408	missense variant	-	NC_000014.9:g.95105155T>C	TOPMed
DICER1	Q9UPY3	p.Cys1063Gly	COSM3499488	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105153A>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Thr1066Ile	rs1313061695	missense variant	-	NC_000014.9:g.95105143G>A	gnomAD
DICER1	Q9UPY3	p.Ala1067Thr	rs1385079711	missense variant	-	NC_000014.9:g.95105141C>T	gnomAD
DICER1	Q9UPY3	p.Glu1068Lys	COSM6076805	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105138C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Thr1074Ile	RCV000472928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105119G>A	ClinVar
DICER1	Q9UPY3	p.Thr1074Ile	rs1060503653	missense variant	-	NC_000014.9:g.95105119G>A	-
DICER1	Q9UPY3	p.Ser1076Asn	RCV000476968	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105113C>T	ClinVar
DICER1	Q9UPY3	p.Ser1076Arg	RCV000569044	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105112G>T	ClinVar
DICER1	Q9UPY3	p.Ser1076Asn	rs778494781	missense variant	-	NC_000014.9:g.95105113C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1077Asn	RCV000654460	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105111C>T	ClinVar
DICER1	Q9UPY3	p.Asp1077His	rs373412959	missense variant	-	NC_000014.9:g.95105111C>G	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1077Asn	rs373412959	missense variant	-	NC_000014.9:g.95105111C>T	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1078Ser	rs1488726216	missense variant	-	NC_000014.9:g.95105108C>A	gnomAD
DICER1	Q9UPY3	p.Val1080Met	COSM3786392	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105102C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Gly1081Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95105099C>T	NCI-TCGA
DICER1	Q9UPY3	p.Arg1083Ser	RCV000654421	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105091T>A	ClinVar
DICER1	Q9UPY3	p.Arg1083Thr	RCV000459111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105092C>G	ClinVar
DICER1	Q9UPY3	p.Arg1083Thr	rs1060503616	missense variant	-	NC_000014.9:g.95105092C>G	-
DICER1	Q9UPY3	p.Arg1083Ser	rs1291112028	missense variant	-	NC_000014.9:g.95105091T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro1086LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95105083G>-	NCI-TCGA
DICER1	Q9UPY3	p.Ala1087Val	RCV000471385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>A	ClinVar
DICER1	Q9UPY3	p.Ala1087Val	RCV000572177	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>A	ClinVar
DICER1	Q9UPY3	p.Ala1087Gly	RCV000561162	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>C	ClinVar
DICER1	Q9UPY3	p.Ala1087Glu	RCV000551807	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>T	ClinVar
DICER1	Q9UPY3	p.Ala1087Gly	RCV000525561	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>C	ClinVar
DICER1	Q9UPY3	p.Ala1087Val	rs180918578	missense variant	-	NC_000014.9:g.95105080G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Gly	rs180918578	missense variant	-	NC_000014.9:g.95105080G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Glu	rs180918578	missense variant	-	NC_000014.9:g.95105080G>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1088Glu	rs376110719	missense variant	-	NC_000014.9:g.95105076A>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1089Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95105073A>C	NCI-TCGA
DICER1	Q9UPY3	p.Tyr1091Phe	RCV000540270	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104124T>A	ClinVar
DICER1	Q9UPY3	p.Tyr1091Ter	RCV000240881	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104123G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1091Ter	RCV000851457	nonsense	-	NC_000014.9:g.95104123G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1091Phe	rs1442769827	missense variant	-	NC_000014.9:g.95104124T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro1092Ter	RCV000240906	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Pro1092Ter	RCV000493882	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Pro1092Arg	rs1196047547	missense variant	-	NC_000014.9:g.95104121G>C	TOPMed
DICER1	Q9UPY3	p.del1093del	RCV000240906	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.del1093del	RCV000493882	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Gly1097Val	RCV000706333	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104106C>A	ClinVar
DICER1	Q9UPY3	p.Gly1097Arg	rs1466088737	missense variant	-	NC_000014.9:g.95104107C>T	gnomAD
DICER1	Q9UPY3	p.Lys1099Glu	RCV000695400	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101T>C	ClinVar
DICER1	Q9UPY3	p.Lys1099Arg	rs1356351330	missense variant	-	NC_000014.9:g.95104100T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1099Arg	RCV000690410	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104100T>C	ClinVar
DICER1	Q9UPY3	p.Lys1100Ter	RCV000493122	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.del1100del	RCV000493122	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.del1100del	RCV000240946	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.Lys1100Ter	RCV000240946	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.Lys1100Asn	rs1417728231	missense variant	-	NC_000014.9:g.95104096T>G	TOPMed
DICER1	Q9UPY3	p.Ser1101Cys	RCV000553084	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104094G>C	ClinVar
DICER1	Q9UPY3	p.Ser1101Cys	rs779748717	missense variant	-	NC_000014.9:g.95104094G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1102Val	rs750159753	missense variant	-	NC_000014.9:g.95104092T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1102Phe	rs750159753	missense variant	-	NC_000014.9:g.95104092T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1103Val	RCV000696513	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104088T>A	ClinVar
DICER1	Q9UPY3	p.Ser1104Arg	RCV000654384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104084G>C	ClinVar
DICER1	Q9UPY3	p.Ser1104Arg	rs1555369738	missense variant	-	NC_000014.9:g.95104084G>C	-
DICER1	Q9UPY3	p.Lys1105Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95104082T>G	NCI-TCGA
DICER1	Q9UPY3	p.Ser1106Tyr	rs761613375	missense variant	-	NC_000014.9:g.95104079G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1108Val	rs751551790	missense variant	-	NC_000014.9:g.95104074T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1110Ser	RCV000561530	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104067A>C	ClinVar
DICER1	Q9UPY3	p.Ile1110Val	RCV000697698	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104068T>C	ClinVar
DICER1	Q9UPY3	p.Ile1110Ser	rs759760077	missense variant	-	NC_000014.9:g.95104067A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1110Ser	RCV000458245	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104067A>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	RCV000280432	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95104062T>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	RCV000462299	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104062T>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	rs587778229	missense variant	-	NC_000014.9:g.95104062T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1113Tyr	RCV000571981	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104058G>T	ClinVar
DICER1	Q9UPY3	p.Ser1113Tyr	RCV000476785	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104058G>T	ClinVar
DICER1	Q9UPY3	p.Ser1113Tyr	rs143841809	missense variant	-	NC_000014.9:g.95104058G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1113Phe	rs143841809	missense variant	-	NC_000014.9:g.95104058G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1114Cys	RCV000687116	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104055G>C	ClinVar
DICER1	Q9UPY3	p.Ser1114Cys	rs1278843875	missense variant	-	NC_000014.9:g.95104055G>C	gnomAD
DICER1	Q9UPY3	p.Ser1115Ter	rs1255583940	stop gained	-	NC_000014.9:g.95104052G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1116Ter	RCV000493717	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104051dup	ClinVar
DICER1	Q9UPY3	p.Ala1116Asp	rs1236050119	missense variant	-	NC_000014.9:g.95104049G>T	gnomAD
DICER1	Q9UPY3	p.Glu1117Ter	RCV000468408	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104047C>A	ClinVar
DICER1	Q9UPY3	p.Glu1117Ter	rs1060503617	stop gained	-	NC_000014.9:g.95104047C>A	-
DICER1	Q9UPY3	p.Asn1118Ser	RCV000471510	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104043T>C	ClinVar
DICER1	Q9UPY3	p.Asn1118Ser	rs773410751	missense variant	-	NC_000014.9:g.95104043T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1120Ser	rs1555369701	missense variant	-	NC_000014.9:g.95104037T>C	-
DICER1	Q9UPY3	p.Asn1120Ser	RCV000654468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104037T>C	ClinVar
DICER1	Q9UPY3	p.Asn1120His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95104038T>G	NCI-TCGA
DICER1	Q9UPY3	p.Cys1122Arg	RCV000552304	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104032A>G	ClinVar
DICER1	Q9UPY3	p.Cys1122Arg	rs1555369696	missense variant	-	NC_000014.9:g.95104032A>G	-
DICER1	Q9UPY3	p.His1124Pro	rs534996867	missense variant	-	NC_000014.9:g.95104025T>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1125Asn	RCV000234636	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104022C>T	ClinVar
DICER1	Q9UPY3	p.Ser1125Asn	RCV000568324	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104022C>T	ClinVar
DICER1	Q9UPY3	p.Ser1125Asn	rs748581847	missense variant	-	NC_000014.9:g.95104022C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1126Ala	rs1296404230	missense variant	-	NC_000014.9:g.95104020T>C	gnomAD
DICER1	Q9UPY3	p.Ile1127Ser	RCV000476694	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104016A>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Ser	RCV000564833	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104016A>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Val	RCV000530594	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104017T>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Val	rs779530679	missense variant	-	NC_000014.9:g.95104017T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1127Ser	rs567895583	missense variant	-	NC_000014.9:g.95104016A>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1129Ser	rs1175693367	missense variant	-	NC_000014.9:g.95104011G>A	gnomAD
DICER1	Q9UPY3	p.Glu1130Ala	rs748728275	missense variant	-	NC_000014.9:g.95104007T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1130Lys	rs1555369685	missense variant	-	NC_000014.9:g.95104008C>T	-
DICER1	Q9UPY3	p.Glu1130Lys	RCV000654471	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104008C>T	ClinVar
DICER1	Q9UPY3	p.Asn1131Ser	RCV000468980	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104004T>C	ClinVar
DICER1	Q9UPY3	p.Asn1131Ser	rs200651335	missense variant	-	NC_000014.9:g.95104004T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1133Thr	RCV000563850	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103999C>T	ClinVar
DICER1	Q9UPY3	p.Ala1133Thr	rs1555369675	missense variant	-	NC_000014.9:g.95103999C>T	-
DICER1	Q9UPY3	p.His1134Leu	rs1159674119	missense variant	-	NC_000014.9:g.95103995T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1135Lys	RCV000654377	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103993G>T	ClinVar
DICER1	Q9UPY3	p.Gln1135Lys	rs755711684	missense variant	-	NC_000014.9:g.95103993G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1135Glu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103993G>C	NCI-TCGA
DICER1	Q9UPY3	p.Arg1139Ser	RCV000572785	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103979T>A	ClinVar
DICER1	Q9UPY3	p.Arg1139Ser	rs750104632	missense variant	-	NC_000014.9:g.95103979T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1139Ser	RCV000456808	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103979T>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	RCV000477099	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103974G>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	RCV000570654	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103974G>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	rs780815020	missense variant	-	NC_000014.9:g.95103974G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1142Pro	RCV000699665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103972A>G	ClinVar
DICER1	Q9UPY3	p.Ser1142Phe	rs1212563071	missense variant	-	NC_000014.9:g.95103971G>A	gnomAD
DICER1	Q9UPY3	p.Ser1142Pro	rs1257619891	missense variant	-	NC_000014.9:g.95103972A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1143Pro	RCV000564869	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103968A>G	ClinVar
DICER1	Q9UPY3	p.Leu1143Pro	rs139786661	missense variant	-	NC_000014.9:g.95103968A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1143Ile	rs375211466	missense variant	-	NC_000014.9:g.95103969G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His1146Arg	RCV000686020	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103959T>C	ClinVar
DICER1	Q9UPY3	p.His1146Asp	rs1240541454	missense variant	-	NC_000014.9:g.95103960G>C	gnomAD
DICER1	Q9UPY3	p.Gln1148Glu	COSM3793992	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103954G>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Gln1148Arg	rs764029077	missense variant	-	NC_000014.9:g.95103953T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1149Ile	RCV000557215	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103949C>G	ClinVar
DICER1	Q9UPY3	p.Met1149Ile	rs1304695583	missense variant	-	NC_000014.9:g.95103949C>G	gnomAD
DICER1	Q9UPY3	p.Met1149Ile	rs1304695583	missense variant	-	NC_000014.9:g.95103949C>T	gnomAD
DICER1	Q9UPY3	p.Ser1150Phe	RCV000701612	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103947G>A	ClinVar
DICER1	Q9UPY3	p.Val1151Ter	RCV000564921	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103943_95103944CA[1]	ClinVar
DICER1	Q9UPY3	p.Val1151Ala	rs1321219152	missense variant	-	NC_000014.9:g.95103944A>G	TOPMed
DICER1	Q9UPY3	p.Cys1153Gly	RCV000468990	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103939A>C	ClinVar
DICER1	Q9UPY3	p.Cys1153Phe	RCV000654401	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103938C>A	ClinVar
DICER1	Q9UPY3	p.Cys1153Tyr	rs762999390	missense variant	-	NC_000014.9:g.95103938C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Cys1153Gly	rs1060503607	missense variant	-	NC_000014.9:g.95103939A>C	-
DICER1	Q9UPY3	p.Cys1153Phe	rs762999390	missense variant	-	NC_000014.9:g.95103938C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1154Ile	RCV000530978	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103935C>A	ClinVar
DICER1	Q9UPY3	p.Arg1154Ser	RCV000545736	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103934T>G	ClinVar
DICER1	Q9UPY3	p.Arg1154Ser	rs192822778	missense variant	-	NC_000014.9:g.95103934T>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1154Ile	rs1555369626	missense variant	-	NC_000014.9:g.95103935C>A	-
DICER1	Q9UPY3	p.Thr1155Met	rs766598800	missense variant	-	NC_000014.9:g.95103932G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1156Val	RCV000206633	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103930A>C	ClinVar
DICER1	Q9UPY3	p.Leu1156Val	rs760950917	missense variant	-	NC_000014.9:g.95103930A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1158Cys	RCV000654371	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103924T>A	ClinVar
DICER1	Q9UPY3	p.Ser1158Cys	rs949633145	missense variant	-	NC_000014.9:g.95103924T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1159Lys	RCV000654385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103921C>T	ClinVar
DICER1	Q9UPY3	p.Glu1159Lys	rs145693584	missense variant	-	NC_000014.9:g.95103921C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1159Gln	rs145693584	missense variant	-	NC_000014.9:g.95103921C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1160Tyr	RCV000565593	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103917G>T	ClinVar
DICER1	Q9UPY3	p.Ser1160Thr	rs1354557070	missense variant	-	NC_000014.9:g.95103918A>T	TOPMed
DICER1	Q9UPY3	p.Ser1160Tyr	rs774583162	missense variant	-	NC_000014.9:g.95103917G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1160Tyr	RCV000228406	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103917G>T	ClinVar
DICER1	Q9UPY3	p.Pro1161Ser	rs1476564840	missense variant	-	NC_000014.9:g.95103915G>A	gnomAD
DICER1	Q9UPY3	p.Gly1162Ser	rs1287752405	missense variant	-	NC_000014.9:g.95103912C>T	TOPMed
DICER1	Q9UPY3	p.Leu1164His	rs1424957932	missense variant	-	NC_000014.9:g.95103905A>T	gnomAD
DICER1	Q9UPY3	p.His1165Gln	rs372581591	missense variant	-	NC_000014.9:g.95103901G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His1165Gln	rs372581591	missense variant	-	NC_000014.9:g.95103901G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1166Ile	RCV000232173	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103900C>T	ClinVar
DICER1	Q9UPY3	p.Val1166Ile	rs368588781	missense variant	-	NC_000014.9:g.95103900C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1167Asp	RCV000544961	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103895T>A	ClinVar
DICER1	Q9UPY3	p.Glu1167Lys	RCV000654391	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103897C>T	ClinVar
DICER1	Q9UPY3	p.Glu1167Lys	rs1456267980	missense variant	-	NC_000014.9:g.95103897C>T	TOPMed
DICER1	Q9UPY3	p.Ala1170Thr	RCV000706636	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103888C>T	ClinVar
DICER1	Q9UPY3	p.Ala1170Gly	rs1484416477	missense variant	-	NC_000014.9:g.95103887G>C	gnomAD
DICER1	Q9UPY3	p.Asp1171Gly	rs953998753	missense variant	-	NC_000014.9:g.95103884T>C	TOPMed
DICER1	Q9UPY3	p.Leu1172Ter	RCV000240884	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.Leu1172Ter	RCV000494025	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.del1172del	RCV000240884	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.del1172del	RCV000494025	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.Leu1172Ile	rs1028179766	missense variant	-	NC_000014.9:g.95103882G>T	TOPMed
DICER1	Q9UPY3	p.Thr1173Ile	RCV000472462	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103878G>A	ClinVar
DICER1	Q9UPY3	p.Thr1173Lys	rs769329149	missense variant	-	NC_000014.9:g.95103878G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1173Ile	rs769329149	missense variant	-	NC_000014.9:g.95103878G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1176Ser	RCV000537925	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103869T>C	ClinVar
DICER1	Q9UPY3	p.Asn1176Ser	rs1555369577	missense variant	-	NC_000014.9:g.95103869T>C	-
DICER1	Q9UPY3	p.Gly1177Val	RCV000563568	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103866C>A	ClinVar
DICER1	Q9UPY3	p.Gly1177Val	rs1160985143	missense variant	-	NC_000014.9:g.95103866C>A	TOPMed
DICER1	Q9UPY3	p.Gly1177Cys	rs1486689185	missense variant	-	NC_000014.9:g.95103867C>A	gnomAD
DICER1	Q9UPY3	p.Leu1178Phe	RCV000547588	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103864G>A	ClinVar
DICER1	Q9UPY3	p.Leu1178Phe	rs780952666	missense variant	-	NC_000014.9:g.95103864G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1178Arg	rs1412362102	missense variant	-	NC_000014.9:g.95103863A>C	TOPMed
DICER1	Q9UPY3	p.Ser1179Cys	RCV000575641	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103860G>C	ClinVar
DICER1	Q9UPY3	p.Ser1179Ter	RCV000493223	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103858_95103861AAGA[1]	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	RCV000464700	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103860G>C	ClinVar
DICER1	Q9UPY3	p.Ser1179Ter	RCV000240923	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
DICER1	Q9UPY3	p.del1179del	RCV000240923	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	rs1060503585	missense variant	-	NC_000014.9:g.95103860G>C	gnomAD
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000240949	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103857_95103858del	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000240887	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000627259	nonsense	-	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000494658	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000492848	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103857_95103858del	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	rs886037704	stop gained	-	NC_000014.9:g.95103856G>T	-
DICER1	Q9UPY3	p.Asn1183Ser	rs1238231746	missense variant	-	NC_000014.9:g.95103848T>C	gnomAD
DICER1	Q9UPY3	p.Ala1185Thr	RCV000573896	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	RCV000761100	missense variant	Acute myeloid leukemia (AML)	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	RCV000231625	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	rs150514959	missense variant	-	NC_000014.9:g.95103843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1186Ser	RCV000536034	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103839T>C	ClinVar
DICER1	Q9UPY3	p.Asn1186Ser	rs201523588	missense variant	-	NC_000014.9:g.95103839T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1186Ile	rs201523588	missense variant	-	NC_000014.9:g.95103839T>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1187Asp	rs559078811	missense variant	-	NC_000014.9:g.95103836C>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1189Asn	rs1258777784	missense variant	-	NC_000014.9:g.95103831A>T	gnomAD
DICER1	Q9UPY3	p.Leu1191Phe	rs1316149579	missense variant	-	NC_000014.9:g.95103823T>G	gnomAD
DICER1	Q9UPY3	p.Asn1193Ser	RCV000765196	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103818T>C	ClinVar
DICER1	Q9UPY3	p.Asn1193Ter	RCV000240911	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103817_95103818del	ClinVar
DICER1	Q9UPY3	p.Asn1193Asp	rs1383245596	missense variant	-	NC_000014.9:g.95103819T>C	gnomAD
DICER1	Q9UPY3	p.Asn1193Ser	RCV000690265	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103818T>C	ClinVar
DICER1	Q9UPY3	p.Asn1193Ser	rs1288723916	missense variant	-	NC_000014.9:g.95103818T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1194Gly	rs766545351	missense variant	-	NC_000014.9:g.95103816T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1195His	RCV000569208	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103813C>G	ClinVar
DICER1	Q9UPY3	p.Asp1195Asn	COSM959261	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103813C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asp1195His	rs1555369546	missense variant	-	NC_000014.9:g.95103813C>G	-
DICER1	Q9UPY3	p.del1197del	RCV000240953	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Cys1197Ter	RCV000240953	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.del1197del	RCV000492875	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Cys1197Ter	RCV000492875	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Cys1197Ter	RCV000698895	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103805G>T	ClinVar
DICER1	Q9UPY3	p.Asn1200Asp	rs966682402	missense variant	-	NC_000014.9:g.95103798T>C	gnomAD
DICER1	Q9UPY3	p.Gln1201Glu	RCV000689751	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103795G>C	ClinVar
DICER1	Q9UPY3	p.Asn1203Tyr	COSM699749	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103789T>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Tyr1204Ter	RCV000056333	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103780_95103785delinsA	ClinVar
DICER1	Q9UPY3	p.Lys1206Glu	RCV000386930	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103780T>C	ClinVar
DICER1	Q9UPY3	p.Lys1206Glu	rs886050942	missense variant	-	NC_000014.9:g.95103780T>C	-
DICER1	Q9UPY3	p.Lys1206Arg	rs761954648	missense variant	-	NC_000014.9:g.95103779T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1210Ser	RCV000466992	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103768G>A	ClinVar
DICER1	Q9UPY3	p.Pro1210Ser	RCV000570577	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103768G>A	ClinVar
DICER1	Q9UPY3	p.Pro1210Ser	rs200925349	missense variant	-	NC_000014.9:g.95103768G>A	TOPMed
DICER1	Q9UPY3	p.Val1211Met	RCV000525096	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>T	ClinVar
DICER1	Q9UPY3	p.Val1211Met	RCV000568526	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>T	ClinVar
DICER1	Q9UPY3	p.Val1211Leu	RCV000474677	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>G	ClinVar
DICER1	Q9UPY3	p.Val1211Leu	rs764470378	missense variant	-	NC_000014.9:g.95103765C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Leu	rs764470378	missense variant	-	NC_000014.9:g.95103765C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Leu	RCV000571532	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>A	ClinVar
DICER1	Q9UPY3	p.Val1211Met	rs764470378	missense variant	-	NC_000014.9:g.95103765C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1212Pro	RCV000539806	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103761T>G	ClinVar
DICER1	Q9UPY3	p.Gln1212Pro	rs763415569	missense variant	-	NC_000014.9:g.95103761T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1213Ala	RCV000554547	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103759G>C	ClinVar
DICER1	Q9UPY3	p.Pro1213Ala	rs965289045	missense variant	-	NC_000014.9:g.95103759G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1214Ile	RCV000654473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103755G>A	ClinVar
DICER1	Q9UPY3	p.Thr1214Ile	rs769277842	missense variant	-	NC_000014.9:g.95103755G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1214Ala	RCV000528300	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103756T>C	ClinVar
DICER1	Q9UPY3	p.Thr1214Ala	rs776023608	missense variant	-	NC_000014.9:g.95103756T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1214Ala	RCV000570947	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103756T>C	ClinVar
DICER1	Q9UPY3	p.Ser1216Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103749G>A	NCI-TCGA
DICER1	Q9UPY3	p.Ser1218Cys	RCV000540029	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>C	ClinVar
DICER1	Q9UPY3	p.Ser1218Tyr	RCV000706017	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>T	ClinVar
DICER1	Q9UPY3	p.Ser1218Cys	rs1197755223	missense variant	-	NC_000014.9:g.95103743G>C	TOPMed
DICER1	Q9UPY3	p.Gln1220Ter	RCV000240890	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103738G>A	ClinVar
DICER1	Q9UPY3	p.Gln1220Pro	rs776020604	missense variant	-	NC_000014.9:g.95103737T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1220Pro	RCV000654404	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103737T>G	ClinVar
DICER1	Q9UPY3	p.Gln1220Ter	RCV000494215	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103738G>A	ClinVar
DICER1	Q9UPY3	p.Gln1220Ter	rs886037707	stop gained	-	NC_000014.9:g.95103738G>A	-
DICER1	Q9UPY3	p.Gln1220Arg	rs776020604	missense variant	-	NC_000014.9:g.95103737T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1223His	RCV000461690	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103729A>G	ClinVar
DICER1	Q9UPY3	p.Tyr1223His	rs1006671935	missense variant	-	NC_000014.9:g.95103729A>G	-
DICER1	Q9UPY3	p.Ser1224Asn	RCV000554774	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103725C>T	ClinVar
DICER1	Q9UPY3	p.Ser1224Asn	rs1555369495	missense variant	-	NC_000014.9:g.95103725C>T	-
DICER1	Q9UPY3	p.Tyr1225Cys	rs146584765	missense variant	-	NC_000014.9:g.95103722T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1225Ter	rs184830847	stop gained	-	NC_000014.9:g.95103721G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1225Cys	RCV000330036	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103722T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1225Ter	RCV000494286	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103721G>C	ClinVar
DICER1	Q9UPY3	p.Glu1226Lys	RCV000569335	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103720C>T	ClinVar
DICER1	Q9UPY3	p.del1226del	RCV000240916	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
DICER1	Q9UPY3	p.Glu1226Lys	RCV000464309	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>T	ClinVar
DICER1	Q9UPY3	p.Glu1226Ter	RCV000240916	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
DICER1	Q9UPY3	p.Glu1226Ala	RCV000823417	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103719T>G	ClinVar
DICER1	Q9UPY3	p.Glu1226Ala	RCV000561188	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103719T>G	ClinVar
DICER1	Q9UPY3	p.Glu1226Ter	rs748087536	stop gained	-	NC_000014.9:g.95103720C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Lys	rs748087536	missense variant	-	NC_000014.9:g.95103720C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Ala	rs779062746	missense variant	-	NC_000014.9:g.95103719T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1227Lys	RCV000533075	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103715G>T	ClinVar
DICER1	Q9UPY3	p.Asn1227Lys	rs750457254	missense variant	-	NC_000014.9:g.95103715G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1228Ter	RCV000761893	nonsense	-	NC_000014.9:g.95103714G>A	ClinVar
DICER1	Q9UPY3	p.Pro1229Arg	rs1370940293	missense variant	-	NC_000014.9:g.95103710G>C	gnomAD
DICER1	Q9UPY3	p.Gln1230Ter	RCV000699486	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103708G>A	ClinVar
DICER1	Q9UPY3	p.Pro1231Ser	COSM3499484	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103705G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Pro1231Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103704G>A	NCI-TCGA
DICER1	Q9UPY3	p.Ser1232Asn	RCV000469516	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103701C>T	ClinVar
DICER1	Q9UPY3	p.Ser1232Asn	rs1060503597	missense variant	-	NC_000014.9:g.95103701C>T	-
DICER1	Q9UPY3	p.Asp1233Asn	RCV000532307	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103699C>T	ClinVar
DICER1	Q9UPY3	p.Asp1233Asn	rs1454503348	missense variant	-	NC_000014.9:g.95103699C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1233Asn	RCV000564362	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103699C>T	ClinVar
DICER1	Q9UPY3	p.Cys1235Tyr	rs1464737401	missense variant	-	NC_000014.9:g.95103692C>T	TOPMed
DICER1	Q9UPY3	p.Leu1237Phe	rs757460313	missense variant	-	NC_000014.9:g.95103687G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1238Pro	RCV000472528	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103683A>G	ClinVar
DICER1	Q9UPY3	p.Leu1238Pro	rs1060503603	missense variant	-	NC_000014.9:g.95103683A>G	-
DICER1	Q9UPY3	p.Ser1239Gly	rs751765488	missense variant	-	NC_000014.9:g.95103681T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1241Arg	RCV000765195	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Lys1241Arg	RCV000567535	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Lys1241Arg	rs764415288	missense variant	-	NC_000014.9:g.95103674T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1241Arg	RCV000547038	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000494497	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000493027	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000240955	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103670G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	rs886037708	stop gained	-	NC_000014.9:g.95103670G>T	gnomAD
DICER1	Q9UPY3	p.Tyr1242Asp	rs1273768047	missense variant	-	NC_000014.9:g.95103672A>C	gnomAD
DICER1	Q9UPY3	p.Tyr1242Asp	RCV000561586	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103672A>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	rs886037708	stop gained	-	NC_000014.9:g.95103670G>C	gnomAD
DICER1	Q9UPY3	p.Leu1243Pro	RCV000562517	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103668A>G	ClinVar
DICER1	Q9UPY3	p.Leu1243Pro	RCV000556615	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103668A>G	ClinVar
DICER1	Q9UPY3	p.Leu1243Pro	rs561584807	missense variant	-	NC_000014.9:g.95103668A>G	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1244His	rs1250903139	missense variant	-	NC_000014.9:g.95103666C>G	gnomAD
DICER1	Q9UPY3	p.Lys1249Arg	RCV000459857	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103650T>C	ClinVar
DICER1	Q9UPY3	p.Lys1249Arg	rs527872690	missense variant	-	NC_000014.9:g.95103650T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1249Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103650T>G	NCI-TCGA
DICER1	Q9UPY3	p.Gly1254Glu	rs1440770707	missense variant	-	NC_000014.9:g.95103635C>T	gnomAD
DICER1	Q9UPY3	p.Ser1255Thr	rs199526737	missense variant	-	NC_000014.9:g.95103632C>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val1257Leu	rs1392282413	missense variant	-	NC_000014.9:g.95103627C>A	gnomAD
DICER1	Q9UPY3	p.Val1257Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103626A>G	NCI-TCGA
DICER1	Q9UPY3	p.Met1258Thr	RCV000467810	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103623A>G	ClinVar
DICER1	Q9UPY3	p.Met1258Thr	rs144095207	missense variant	-	NC_000014.9:g.95103623A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1258Ile	rs1392589360	missense variant	-	NC_000014.9:g.95103622C>A	gnomAD
DICER1	Q9UPY3	p.Val1260Ile	RCV000463245	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103618C>T	ClinVar
DICER1	Q9UPY3	p.Val1260Ter	RCV000240892	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
DICER1	Q9UPY3	p.del1260del	RCV000240892	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
DICER1	Q9UPY3	p.Val1260Ile	rs763425076	missense variant	-	NC_000014.9:g.95103618C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1263Ala	rs771990285	missense variant	-	NC_000014.9:g.95103608C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1263Asp	rs771990285	missense variant	-	NC_000014.9:g.95103608C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1264Met	RCV000459272	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103605G>A	ClinVar
DICER1	Q9UPY3	p.Thr1264Met	rs139346443	missense variant	-	NC_000014.9:g.95103605G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1264Met	RCV000569382	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103605G>A	ClinVar
DICER1	Q9UPY3	p.Asp1266His	RCV000459002	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103600C>G	ClinVar
DICER1	Q9UPY3	p.Asp1266Glu	RCV000699111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103598G>C	ClinVar
DICER1	Q9UPY3	p.Asp1266Glu	rs1183908844	missense variant	-	NC_000014.9:g.95103598G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1266Ala	rs368610812	missense variant	-	NC_000014.9:g.95103599T>G	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1266His	rs1060503654	missense variant	-	NC_000014.9:g.95103600C>G	-
DICER1	Q9UPY3	p.Thr1267Ala	rs953855540	missense variant	-	NC_000014.9:g.95103597T>C	TOPMed
DICER1	Q9UPY3	p.Gln1269Glu	rs1277796753	missense variant	-	NC_000014.9:g.95103591G>C	TOPMed
DICER1	Q9UPY3	p.Val1270Met	RCV000700769	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103588C>T	ClinVar
DICER1	Q9UPY3	p.Leu1271Phe	RCV000702550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103585G>A	ClinVar
DICER1	Q9UPY3	p.Leu1271Phe	rs1249975103	missense variant	-	NC_000014.9:g.95103585G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1271Pro	rs1178292163	missense variant	-	NC_000014.9:g.95103584A>G	gnomAD
DICER1	Q9UPY3	p.Lys1272Asn	RCV000695971	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103580C>G	ClinVar
DICER1	Q9UPY3	p.Lys1272Arg	RCV000534087	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103581T>C	ClinVar
DICER1	Q9UPY3	p.Lys1272Arg	rs151197809	missense variant	-	NC_000014.9:g.95103581T>C	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1274Met	COSM959260	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103575C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg1274Gly	rs142193936	missense variant	-	NC_000014.9:g.95103576T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1275Val	rs751764482	missense variant	-	NC_000014.9:g.95103573T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1275Val	RCV000561792	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103573T>C	ClinVar
DICER1	Q9UPY3	p.Met1275Val	RCV000225860	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103573T>C	ClinVar
DICER1	Q9UPY3	p.Met1275Ile	rs778033280	missense variant	-	NC_000014.9:g.95103571C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1276Gly	rs758636143	missense variant	-	NC_000014.9:g.95103569T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1276Gly	RCV000472875	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103569T>C	ClinVar
DICER1	Q9UPY3	p.Asp1276Glu	rs753013678	missense variant	-	NC_000014.9:g.95103568A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1280Cys	rs148696745	missense variant	-	NC_000014.9:g.95103558T>A	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1280Cys	RCV000654464	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103558T>A	ClinVar
DICER1	Q9UPY3	p.Ser1280Gly	rs148696745	missense variant	-	NC_000014.9:g.95103558T>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1281Leu	RCV000549005	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103554G>A	ClinVar
DICER1	Q9UPY3	p.Pro1281Leu	rs1306948597	missense variant	-	NC_000014.9:g.95103554G>A	gnomAD
DICER1	Q9UPY3	p.Ile1283Val	RCV000527104	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103549T>C	ClinVar
DICER1	Q9UPY3	p.Ile1283Val	RCV000576059	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103549T>C	ClinVar
DICER1	Q9UPY3	p.Ile1283Thr	rs754352488	missense variant	-	NC_000014.9:g.95103548A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1283Val	rs548255758	missense variant	-	NC_000014.9:g.95103549T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1283Thr	RCV000229624	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103548A>G	ClinVar
DICER1	Q9UPY3	p.Gly1284Ala	RCV000571006	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103545C>G	ClinVar
DICER1	Q9UPY3	p.Gly1284Ala	rs563395930	missense variant	-	NC_000014.9:g.95103545C>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1286Ala	rs111495226	missense variant	-	NC_000014.9:g.95103540A>C	TOPMed
DICER1	Q9UPY3	p.Ser1286Phe	RCV000699923	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103539G>A	ClinVar
DICER1	Q9UPY3	p.Ser1287Ala	rs373980178	missense variant	-	NC_000014.9:g.95103537A>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ser1287Leu	rs1263628434	missense variant	-	NC_000014.9:g.95103536G>A	gnomAD
DICER1	Q9UPY3	p.Leu1290Phe	RCV000456821	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103528G>A	ClinVar
DICER1	Q9UPY3	p.Leu1290Phe	rs1060503650	missense variant	-	NC_000014.9:g.95103528G>A	-
DICER1	Q9UPY3	p.del1292del	RCV000240929	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
DICER1	Q9UPY3	p.Pro1292Ter	RCV000240929	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
DICER1	Q9UPY3	p.Pro1292Thr	rs1415495347	missense variant	-	NC_000014.9:g.95103522G>T	TOPMed
DICER1	Q9UPY3	p.Asn1293Ser	RCV000575772	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103518T>C	ClinVar
DICER1	Q9UPY3	p.Asn1293Thr	rs772855134	missense variant	-	NC_000014.9:g.95103518T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1293Ser	RCV000537430	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518T>C	ClinVar
DICER1	Q9UPY3	p.Asn1293Ser	rs772855134	missense variant	-	NC_000014.9:g.95103518T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1295Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103512C>A	NCI-TCGA
DICER1	Q9UPY3	p.Ile1297Thr	RCV000765194	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
DICER1	Q9UPY3	p.Ile1297Asn	rs761578934	missense variant	-	NC_000014.9:g.95103506A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1297Thr	RCV000654472	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
DICER1	Q9UPY3	p.Ile1297Thr	rs761578934	missense variant	-	NC_000014.9:g.95103506A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1300Asp	rs774248214	missense variant	-	NC_000014.9:g.95103497G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1300Thr	RCV000233539	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103498C>T	ClinVar
DICER1	Q9UPY3	p.Ala1300Thr	rs878855260	missense variant	-	NC_000014.9:g.95103498C>T	-
DICER1	Q9UPY3	p.Leu1301Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103495A>T	NCI-TCGA
DICER1	Q9UPY3	p.Leu1301Ser	rs1363268262	missense variant	-	NC_000014.9:g.95103494A>G	gnomAD
DICER1	Q9UPY3	p.Leu1303Ter	RCV000056332	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103488_95103489AG[1]	ClinVar
DICER1	Q9UPY3	p.Arg1314Trp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103456G>A	NCI-TCGA
DICER1	Q9UPY3	p.Leu1315Phe	RCV000691665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103453G>A	ClinVar
DICER1	Q9UPY3	p.Leu1315His	rs779909779	missense variant	-	NC_000014.9:g.95103452A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1315Pro	rs779909779	missense variant	-	NC_000014.9:g.95103452A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1316Ter	rs771037069	stop gained	-	NC_000014.9:g.95103450C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1318Phe	RCV000542192	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103444G>A	ClinVar
DICER1	Q9UPY3	p.Leu1318Phe	rs1555369315	missense variant	-	NC_000014.9:g.95103444G>A	-
DICER1	Q9UPY3	p.Asp1320Ter	RCV000851463	frameshift	-	NC_000014.9:g.95103439dup	ClinVar
DICER1	Q9UPY3	p.Asp1320Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103438C>T	NCI-TCGA
DICER1	Q9UPY3	p.Asp1320Ter	RCV000697367	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103439dup	ClinVar
DICER1	Q9UPY3	p.Lys1324Ter	rs1273980412	stop gained	-	NC_000014.9:g.95103426T>A	TOPMed
DICER1	Q9UPY3	p.Thr1329Arg	RCV000232820	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103410G>C	ClinVar
DICER1	Q9UPY3	p.Thr1329Arg	rs878855261	missense variant	-	NC_000014.9:g.95103410G>C	-
DICER1	Q9UPY3	p.Tyr1330Ter	RCV000493021	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103406_95103407AT[1]	ClinVar
DICER1	Q9UPY3	p.Tyr1330His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103408A>G	NCI-TCGA
DICER1	Q9UPY3	p.Thr1334Ile	RCV000526668	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103395G>A	ClinVar
DICER1	Q9UPY3	p.Thr1334Ile	rs1555369296	missense variant	-	NC_000014.9:g.95103395G>A	-
DICER1	Q9UPY3	p.Tyr1335Ter	RCV000227857	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103392dup	ClinVar
DICER1	Q9UPY3	p.Tyr1335Ter	rs878855262	stop gained	-	NC_000014.9:g.95103392dup	-
DICER1	Q9UPY3	p.Tyr1335Ter	rs755357184	stop gained	-	NC_000014.9:g.95103391G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1338Val	RCV000556120	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103383G>A	ClinVar
DICER1	Q9UPY3	p.Ala1338Val	rs766732310	missense variant	-	NC_000014.9:g.95103383G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1340Gln	COSM3815606	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103378C>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg1342Cys	RCV000477127	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103372G>A	ClinVar
DICER1	Q9UPY3	p.Arg1342His	rs767166092	missense variant	-	NC_000014.9:g.95103371C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1342Cys	rs776854466	missense variant	-	NC_000014.9:g.95103372G>A	TOPMed
DICER1	Q9UPY3	p.Ser1344Ter	RCV000707071	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103365G>C	ClinVar
DICER1	Q9UPY3	p.Ser1344Leu	COSM959258	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103365G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser1344Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95103366A>T	NCI-TCGA
DICER1	Q9UPY3	p.Tyr1345Ter	rs1323719137	stop gained	-	NC_000014.9:g.95103361A>T	gnomAD
DICER1	Q9UPY3	p.Met1346Val	RCV000691934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103360T>C	ClinVar
DICER1	Q9UPY3	p.Met1346Ile	rs1387749836	missense variant	-	NC_000014.9:g.95103358C>T	gnomAD
DICER1	Q9UPY3	p.Met1346Val	rs1455097358	missense variant	-	NC_000014.9:g.95103360T>C	TOPMed
DICER1	Q9UPY3	p.Met1346Lys	rs1398853735	missense variant	-	NC_000014.9:g.95103359A>T	gnomAD
DICER1	Q9UPY3	p.Arg1347Lys	rs1165606053	missense variant	-	NC_000014.9:g.95103356C>T	gnomAD
DICER1	Q9UPY3	p.Ser1348Ter	RCV000494261	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103352del	ClinVar
DICER1	Q9UPY3	p.Ser1348Arg	rs1415791238	missense variant	-	NC_000014.9:g.95103352G>T	gnomAD
DICER1	Q9UPY3	p.Ser1348Asn	rs1476191950	missense variant	-	NC_000014.9:g.95103353C>T	gnomAD
DICER1	Q9UPY3	p.Lys1350Thr	RCV000569667	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103347T>G	ClinVar
DICER1	Q9UPY3	p.Lys1350Thr	rs1555369270	missense variant	-	NC_000014.9:g.95103347T>G	-
DICER1	Q9UPY3	p.Lys1350ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95103347T>-	NCI-TCGA
DICER1	Q9UPY3	p.Cys1354Ser	RCV000530034	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099926A>T	ClinVar
DICER1	Q9UPY3	p.Cys1354Ser	rs749559682	missense variant	-	NC_000014.9:g.95099926A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1357Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95099916T>C	NCI-TCGA
DICER1	Q9UPY3	p.Arg1358Cys	RCV000575051	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099914G>A	ClinVar
DICER1	Q9UPY3	p.Arg1358Ter	RCV000493217	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099915dup	ClinVar
DICER1	Q9UPY3	p.Arg1358His	RCV000469750	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099913C>T	ClinVar
DICER1	Q9UPY3	p.Arg1358Cys	rs1185001854	missense variant	-	NC_000014.9:g.95099914G>A	gnomAD
DICER1	Q9UPY3	p.Arg1358His	rs780488568	missense variant	-	NC_000014.9:g.95099913C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1361Arg	rs1555368619	missense variant	-	NC_000014.9:g.95099904T>C	-
DICER1	Q9UPY3	p.Lys1361Arg	RCV000654429	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099904T>C	ClinVar
DICER1	Q9UPY3	p.Lys1363Ter	RCV000493819	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099906dup	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	RCV000569409	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099895C>G	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	RCV000542831	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099895C>G	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	rs1467554488	missense variant	-	NC_000014.9:g.95099895C>G	gnomAD
DICER1	Q9UPY3	p.Gly1364Arg	rs1196046363	missense variant	-	NC_000014.9:g.95099896C>T	gnomAD
DICER1	Q9UPY3	p.Leu1365Ile	rs1250570322	missense variant	-	NC_000014.9:g.95099893G>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1365Ile	RCV000573313	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099893G>T	ClinVar
DICER1	Q9UPY3	p.Leu1365Ile	RCV000557954	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099893G>T	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	RCV000230621	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099884G>A	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	RCV000574570	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099884G>A	ClinVar
DICER1	Q9UPY3	p.Arg1368His	RCV000654419	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099883C>T	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	rs752740048	missense variant	-	NC_000014.9:g.95099884G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1368His	rs767112987	missense variant	-	NC_000014.9:g.95099883C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1368Leu	rs767112987	missense variant	-	NC_000014.9:g.95099883C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1371Met	rs1276560984	missense variant	-	NC_000014.9:g.95099875C>T	TOPMed
DICER1	Q9UPY3	p.Ile1373ArgPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95099868_95099869insATTTGTTTTATTAATTTTTTGTTTCATTTTC	NCI-TCGA
DICER1	Q9UPY3	p.Pro1377Ter	RCV000464109	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099860del	ClinVar
DICER1	Q9UPY3	p.Pro1377LeuPheSerTerUnk	COSM4677489	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95099856G>-	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Pro1377Ter	RCV000494426	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099860del	ClinVar
DICER1	Q9UPY3	p.Pro1377Ala	rs888888762	missense variant	-	NC_000014.9:g.95099857G>C	TOPMed
DICER1	Q9UPY3	p.Asn1379Tyr	rs1555368579	missense variant	-	NC_000014.9:g.95099851T>A	-
DICER1	Q9UPY3	p.Asn1379Tyr	RCV000654410	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099851T>A	ClinVar
DICER1	Q9UPY3	p.Trp1380Ter	RCV000851415	nonsense	-	NC_000014.9:g.95099846C>T	ClinVar
DICER1	Q9UPY3	p.Trp1380Ter	rs1131691205	stop gained	-	NC_000014.9:g.95099846C>T	-
DICER1	Q9UPY3	p.Pro1382Ser	RCV000701333	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099842G>A	ClinVar
DICER1	Q9UPY3	p.Gly1384Val	RCV000469100	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099835C>A	ClinVar
DICER1	Q9UPY3	p.Gly1384Val	rs1060503664	missense variant	-	NC_000014.9:g.95099835C>A	gnomAD
DICER1	Q9UPY3	p.Gly1384Ala	rs1060503664	missense variant	-	NC_000014.9:g.95099835C>G	gnomAD
DICER1	Q9UPY3	p.Val1386Ile	rs1199615826	missense variant	-	NC_000014.9:g.95099830C>T	TOPMed
DICER1	Q9UPY3	p.Val1386Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95099829A>G	NCI-TCGA
DICER1	Q9UPY3	p.Asn1388Asp	rs1555368569	missense variant	-	NC_000014.9:g.95099824T>C	-
DICER1	Q9UPY3	p.Asn1388Asp	RCV000562141	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099824T>C	ClinVar
DICER1	Q9UPY3	p.Ser1392Asn	RCV000654461	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099811C>T	ClinVar
DICER1	Q9UPY3	p.Ser1392Arg	rs1425420979	missense variant	-	NC_000014.9:g.95099810G>C	TOPMed
DICER1	Q9UPY3	p.Ser1392Asn	rs751216539	missense variant	-	NC_000014.9:g.95099811C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1392Thr	rs751216539	missense variant	-	NC_000014.9:g.95099811C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1394Ala	rs763583825	missense variant	-	NC_000014.9:g.95099806T>C	ExAC,TOPMed
DICER1	Q9UPY3	p.Trp1397Arg	RCV000486377	missense variant	-	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000575344	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Ter	RCV000493645	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099796C>T	ClinVar
DICER1	Q9UPY3	p.Trp1397Ter	RCV000240865	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099796C>T	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000227035	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	rs762677393	missense variant	-	NC_000014.9:g.95099797A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Trp1397Ter	rs886037711	stop gained	-	NC_000014.9:g.95099796C>T	-
DICER1	Q9UPY3	p.Asp1400Gly	RCV000464861	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099787T>C	ClinVar
DICER1	Q9UPY3	p.Asp1400Glu	RCV000654394	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099786A>T	ClinVar
DICER1	Q9UPY3	p.Asp1400Glu	rs941973586	missense variant	-	NC_000014.9:g.95099786A>T	gnomAD
DICER1	Q9UPY3	p.Asp1400Gly	RCV000851469	missense variant	-	NC_000014.9:g.95099787T>C	ClinVar
DICER1	Q9UPY3	p.Asp1400Gly	rs139536688	missense variant	-	NC_000014.9:g.95099787T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1401Lys	RCV000703015	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099785C>T	ClinVar
DICER1	Q9UPY3	p.Met1402Ile	RCV000539126	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099780C>T	ClinVar
DICER1	Q9UPY3	p.Met1402Val	rs1356366359	missense variant	-	NC_000014.9:g.95099782T>C	gnomAD
DICER1	Q9UPY3	p.Met1402Ile	rs866519895	missense variant	-	NC_000014.9:g.95099780C>T	gnomAD
DICER1	Q9UPY3	p.Met1402Ile	rs866519895	missense variant	-	NC_000014.9:g.95099780C>A	gnomAD
DICER1	Q9UPY3	p.Thr1403Ser	rs147391538	missense variant	-	NC_000014.9:g.95096713T>A	ESP,ExAC,TOPMed
DICER1	Q9UPY3	p.Asp1405Glu	RCV000800950	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096705G>C	ClinVar
DICER1	Q9UPY3	p.Asp1405Ter	RCV000654428	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096711del	ClinVar
DICER1	Q9UPY3	p.Asp1405Glu	rs1555367924	missense variant	-	NC_000014.9:g.95096705G>C	-
DICER1	Q9UPY3	p.Asp1405Glu	RCV000574723	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096705G>C	ClinVar
DICER1	Q9UPY3	p.Cys1406Phe	rs1295287147	missense variant	-	NC_000014.9:g.95096703C>A	gnomAD
DICER1	Q9UPY3	p.Cys1406Phe	RCV000574324	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096703C>A	ClinVar
DICER1	Q9UPY3	p.Cys1406Arg	rs1356179383	missense variant	-	NC_000014.9:g.95096704A>G	gnomAD
DICER1	Q9UPY3	p.Met1407Arg	RCV000541658	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096700A>C	ClinVar
DICER1	Q9UPY3	p.Met1407Arg	RCV000561317	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096700A>C	ClinVar
DICER1	Q9UPY3	p.Met1407Ile	RCV000462665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096699C>A	ClinVar
DICER1	Q9UPY3	p.Met1407Leu	rs759394379	missense variant	-	NC_000014.9:g.95096701T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1407Val	rs759394379	missense variant	-	NC_000014.9:g.95096701T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1407Ile	rs1060503589	missense variant	-	NC_000014.9:g.95096699C>A	-
DICER1	Q9UPY3	p.Met1407Arg	rs1555367920	missense variant	-	NC_000014.9:g.95096700A>C	-
DICER1	Q9UPY3	p.Ala1409Thr	rs1004274014	missense variant	-	NC_000014.9:g.95096695C>T	TOPMed
DICER1	Q9UPY3	p.Ala1409Glu	rs776416084	missense variant	-	NC_000014.9:g.95096694G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1409Val	rs776416084	missense variant	-	NC_000014.9:g.95096694G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1409Gly	rs776416084	missense variant	-	NC_000014.9:g.95096694G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1411Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096688C>T	NCI-TCGA
DICER1	Q9UPY3	p.Glu1415Gly	rs1343899610	missense variant	-	NC_000014.9:g.95096676T>C	gnomAD
DICER1	Q9UPY3	p.Tyr1417Phe	rs768820364	missense variant	-	NC_000014.9:g.95096670T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1418Lys	rs1421729263	missense variant	-	NC_000014.9:g.95096668C>T	gnomAD
DICER1	Q9UPY3	p.Glu1419Gln	rs775839852	missense variant	-	NC_000014.9:g.95096665C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1419Val	rs770273518	missense variant	-	NC_000014.9:g.95096664T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1419Asp	rs1486741089	missense variant	-	NC_000014.9:g.95096663C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1421Glu	RCV000567188	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096657A>C	ClinVar
DICER1	Q9UPY3	p.Asp1421Glu	rs1219156713	missense variant	-	NC_000014.9:g.95096657A>C	TOPMed
DICER1	Q9UPY3	p.Glu1422Ter	RCV000493195	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096656dup	ClinVar
DICER1	Q9UPY3	p.Glu1422Asp	rs746164022	missense variant	-	NC_000014.9:g.95096654C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1422Asp	RCV000555614	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096654C>A	ClinVar
DICER1	Q9UPY3	p.Glu1422Asp	rs746164022	missense variant	-	NC_000014.9:g.95096654C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1424Gly	COSM959257	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096649T>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1425Asp	COSM3987847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096645C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser1426Asn	RCV000462711	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096643C>T	ClinVar
DICER1	Q9UPY3	p.Ser1426Asn	rs1060503648	missense variant	-	NC_000014.9:g.95096643C>T	gnomAD
DICER1	Q9UPY3	p.Ser1426Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096644T>A	NCI-TCGA
DICER1	Q9UPY3	p.Met1428Lys	RCV000562615	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096637A>T	ClinVar
DICER1	Q9UPY3	p.Met1428Lys	RCV000459122	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096637A>T	ClinVar
DICER1	Q9UPY3	p.Met1428Lys	rs996633792	missense variant	-	NC_000014.9:g.95096637A>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Trp1429Ter	RCV000492934	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096635del	ClinVar
DICER1	Q9UPY3	p.Arg1430Gly	RCV000545818	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096632T>C	ClinVar
DICER1	Q9UPY3	p.Arg1430Gly	rs771513798	missense variant	-	NC_000014.9:g.95096632T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1431Pro	rs1256249012	missense variant	-	NC_000014.9:g.95096629C>G	TOPMed
DICER1	Q9UPY3	p.Ala1431Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096629C>A	NCI-TCGA
DICER1	Q9UPY3	p.Pro1432Ala	RCV000566953	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096626G>C	ClinVar
DICER1	Q9UPY3	p.Pro1432Leu	RCV000560637	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096625G>A	ClinVar
DICER1	Q9UPY3	p.Pro1432Leu	rs747593690	missense variant	-	NC_000014.9:g.95096625G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1432Ala	rs1555367862	missense variant	-	NC_000014.9:g.95096626G>C	-
DICER1	Q9UPY3	p.Glu1435Asp	RCV000698151	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096615C>A	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	RCV000563455	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096613G>T	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	RCV000476530	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096613G>T	ClinVar
DICER1	Q9UPY3	p.Ala1436Ser	rs1360320875	missense variant	-	NC_000014.9:g.95096614C>A	gnomAD
DICER1	Q9UPY3	p.Ala1436Asp	rs777127946	missense variant	-	NC_000014.9:g.95096613G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1437Ter	RCV000851471	frameshift	-	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Asp1437Ter	RCV000493485	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Asp1437Ter	RCV000240895	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Tyr1438Asn	RCV000228106	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096608A>T	ClinVar
DICER1	Q9UPY3	p.Tyr1438Asn	rs878855264	missense variant	-	NC_000014.9:g.95096608A>T	-
DICER1	Q9UPY3	p.Tyr1438Cys	rs1202589148	missense variant	-	NC_000014.9:g.95096607T>C	TOPMed
DICER1	Q9UPY3	p.Glu1439Asp	rs1394532756	missense variant	-	NC_000014.9:g.95096603T>G	gnomAD
DICER1	Q9UPY3	p.Asp1441Tyr	rs752291344	missense variant	-	NC_000014.9:g.95096599C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Phe1442Leu	COSM959256	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096594G>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1444Lys	rs1455952908	missense variant	-	NC_000014.9:g.95096590C>T	gnomAD
DICER1	Q9UPY3	p.Glu1444Asp	rs1367487931	missense variant	-	NC_000014.9:g.95096588C>G	gnomAD
DICER1	Q9UPY3	p.Asp1446Asn	rs899635943	missense variant	-	NC_000014.9:g.95096584C>T	TOPMed
DICER1	Q9UPY3	p.Ile1450Leu	rs1430019327	missense variant	-	NC_000014.9:g.95096572T>G	gnomAD
DICER1	Q9UPY3	p.Phe1452LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95096564A>-	NCI-TCGA
DICER1	Q9UPY3	p.Ile1453Val	rs1040361162	missense variant	-	NC_000014.9:g.95096563T>C	gnomAD
DICER1	Q9UPY3	p.Asn1455Thr	RCV000231875	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096556T>G	ClinVar
DICER1	Q9UPY3	p.Asn1455Asp	RCV000687068	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096557T>C	ClinVar
DICER1	Q9UPY3	p.Asn1455Thr	rs878855265	missense variant	-	NC_000014.9:g.95096556T>G	-
DICER1	Q9UPY3	p.Met1456Ile	rs1187851945	missense variant	-	NC_000014.9:g.95096552C>T	gnomAD
DICER1	Q9UPY3	p.Met1458Ile	rs1488281692	missense variant	-	NC_000014.9:g.95096546C>A	TOPMed
DICER1	Q9UPY3	p.Gly1459Glu	RCV000654407	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096544C>T	ClinVar
DICER1	Q9UPY3	p.Gly1459Glu	rs1043584252	missense variant	-	NC_000014.9:g.95096544C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1462Val	RCV000654437	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096535G>A	ClinVar
DICER1	Q9UPY3	p.Ala1462Val	rs1555367829	missense variant	-	NC_000014.9:g.95096535G>A	-
DICER1	Q9UPY3	p.Val1464Leu	RCV000700566	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096530C>A	ClinVar
DICER1	Q9UPY3	p.Val1464Ile	rs1208091143	missense variant	-	NC_000014.9:g.95096530C>T	gnomAD
DICER1	Q9UPY3	p.Ile1467Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096519G>C	NCI-TCGA
DICER1	Q9UPY3	p.Ser1468Cys	RCV000694811	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096517G>C	ClinVar
DICER1	Q9UPY3	p.Ser1468Cys	RCV000561994	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096517G>C	ClinVar
DICER1	Q9UPY3	p.Ser1468Phe	rs753582860	missense variant	-	NC_000014.9:g.95096517G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1468Cys	rs753582860	missense variant	-	NC_000014.9:g.95096517G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1469Pro	RCV000544557	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096514A>G	ClinVar
DICER1	Q9UPY3	p.Leu1469Pro	RCV000561747	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096514A>G	ClinVar
DICER1	Q9UPY3	p.Leu1469Ter	RCV000654427	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
DICER1	Q9UPY3	p.Leu1469Ter	RCV000478954	frameshift	-	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
DICER1	Q9UPY3	p.Leu1469Ile	RCV000476492	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515G>T	ClinVar
DICER1	Q9UPY3	p.Leu1469Pro	rs200890670	missense variant	-	NC_000014.9:g.95096514A>G	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1469Ile	rs766194200	missense variant	-	NC_000014.9:g.95096515G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1470Ter	RCV000240868	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Ser1470Ter	RCV000494649	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Ser1470Ter	RCV000211112	frameshift	Pineoblastoma	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	RCV000468028	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096508G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	RCV000561516	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096508G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Ser	RCV000654406	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096509G>A	ClinVar
DICER1	Q9UPY3	p.del1471del	RCV000240930	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Pro1471Ter	RCV000240930	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Pro1471Ter	RCV000492956	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.del1471del	RCV000492956	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	rs1060503657	missense variant	-	NC_000014.9:g.95096508G>A	-
DICER1	Q9UPY3	p.Pro1471Ser	rs764066711	missense variant	-	NC_000014.9:g.95096509G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Phe1472Val	rs763155602	missense variant	-	NC_000014.9:g.95096506A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1472Leu	rs763155602	missense variant	-	NC_000014.9:g.95096506A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1473PhePheSerTerUnk	COSM1371849	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95096502_95096503insA	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser1473GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95096503A>-	NCI-TCGA
DICER1	Q9UPY3	p.Thr1475Ala	rs150883389	missense variant	-	NC_000014.9:g.95096497T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1475Ala	RCV000538120	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096497T>C	ClinVar
DICER1	Q9UPY3	p.Asp1476Ter	RCV000240907	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096493_95096494insA	ClinVar
DICER1	Q9UPY3	p.Asp1476Tyr	rs759857552	missense variant	-	NC_000014.9:g.95096494C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1477Phe	rs1463264407	missense variant	-	NC_000014.9:g.95096490G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1477Phe	RCV000548183	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096490G>A	ClinVar
DICER1	Q9UPY3	p.Ser1477Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096490G>C	NCI-TCGA
DICER1	Q9UPY3	p.Ala1478Val	rs771378631	missense variant	-	NC_000014.9:g.95096487G>A	ExAC
DICER1	Q9UPY3	p.Tyr1479Cys	RCV000558444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096484T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1479Cys	rs1218181729	missense variant	-	NC_000014.9:g.95096484T>C	TOPMed
DICER1	Q9UPY3	p.Trp1481Arg	rs778414751	missense variant	-	NC_000014.9:g.95096479A>G	ExAC
DICER1	Q9UPY3	p.Lys1482Asn	COSM959255	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096474T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Met1483Ile	RCV000699832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096471C>T	ClinVar
DICER1	Q9UPY3	p.Met1483Ile	RCV000765193	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096471C>T	ClinVar
DICER1	Q9UPY3	p.Met1483Ile	rs1454569806	missense variant	-	NC_000014.9:g.95096471C>T	gnomAD
DICER1	Q9UPY3	p.Pro1484Thr	rs1184743227	missense variant	-	NC_000014.9:g.95096470G>T	gnomAD
DICER1	Q9UPY3	p.Lys1485Gln	rs772462662	missense variant	-	NC_000014.9:g.95096467T>G	ExAC
DICER1	Q9UPY3	p.Lys1486AsnPheSerTerUnk	COSM1371848	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95096462T>-	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Lys1486Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096464T>G	NCI-TCGA
DICER1	Q9UPY3	p.Ser1487Ter	RCV000493389	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1487Ter	RCV000811512	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1487Ter	RCV000657269	frameshift	-	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1487IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95096461_95096462insT	NCI-TCGA
DICER1	Q9UPY3	p.Ser1491Ile	RCV000229691	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096448C>A	ClinVar
DICER1	Q9UPY3	p.Ser1491Ile	rs878855267	missense variant	-	NC_000014.9:g.95096448C>A	-
DICER1	Q9UPY3	p.Met1492Thr	RCV000765192	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000561694	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000654444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Val	rs756830706	missense variant	-	NC_000014.9:g.95096446T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1492Ile	rs1186397655	missense variant	-	NC_000014.9:g.95096444C>T	gnomAD
DICER1	Q9UPY3	p.Met1492Val	RCV000562003	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096446T>C	ClinVar
DICER1	Q9UPY3	p.Met1492Val	RCV000536096	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096446T>C	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	rs370947079	missense variant	-	NC_000014.9:g.95096445A>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1495Leu	rs753527258	missense variant	-	NC_000014.9:g.95096436G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1495Leu	RCV000550982	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096436G>A	ClinVar
DICER1	Q9UPY3	p.Ser1495Pro	rs767679076	missense variant	-	NC_000014.9:g.95096437A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1497Asn	RCV000566167	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096431C>T	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	RCV000232473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096431C>T	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	rs878855268	missense variant	-	NC_000014.9:g.95096431C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1498Leu	rs779801642	missense variant	-	NC_000014.9:g.95096426A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1499Gln	rs1350503269	missense variant	-	NC_000014.9:g.95096425C>G	gnomAD
DICER1	Q9UPY3	p.Asp1502Asn	RCV000808428	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096416C>T	ClinVar
DICER1	Q9UPY3	p.Asp1502Asn	rs1273522896	missense variant	-	NC_000014.9:g.95096416C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1502Asn	RCV000570957	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096416C>T	ClinVar
DICER1	Q9UPY3	p.del1504del	RCV000240947	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
DICER1	Q9UPY3	p.Ser1504Ter	RCV000240947	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
DICER1	Q9UPY3	p.Ser1504Asn	COSM959254	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096409C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser1505Cys	COSM1300936	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096406G>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser1505Phe	COSM6141743	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096406G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser1505Pro	rs1329994791	missense variant	-	NC_000014.9:g.95096407A>G	gnomAD
DICER1	Q9UPY3	p.Trp1506Ter	RCV000240870	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096403C>T	ClinVar
DICER1	Q9UPY3	p.Trp1506Ter	RCV000493299	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096403C>T	ClinVar
DICER1	Q9UPY3	p.Trp1506Ter	rs886037716	stop gained	-	NC_000014.9:g.95096403C>T	TOPMed
DICER1	Q9UPY3	p.Trp1506Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95096402C>T	NCI-TCGA
DICER1	Q9UPY3	p.Cys1510Tyr	COSM1477876	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096391C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Tyr1511Ter	RCV000494424	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096387A>T	ClinVar
DICER1	Q9UPY3	p.Tyr1511Ter	rs1131691206	stop gained	-	NC_000014.9:g.95096387A>T	gnomAD
DICER1	Q9UPY3	p.Asp1513Tyr	rs1316786303	missense variant	-	NC_000014.9:g.95096383C>A	gnomAD
DICER1	Q9UPY3	p.Ser1515Asn	rs761666375	missense variant	-	NC_000014.9:g.95096376C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1516Asn	COSM699752	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096372T>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1519Ter	RCV000493125	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096365del	ClinVar
DICER1	Q9UPY3	p.Glu1519Val	RCV000457105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096364T>A	ClinVar
DICER1	Q9UPY3	p.Glu1519Val	rs1060503622	missense variant	-	NC_000014.9:g.95096364T>A	-
DICER1	Q9UPY3	p.Glu1520Gln	rs1170730150	missense variant	-	NC_000014.9:g.95096362C>G	gnomAD
DICER1	Q9UPY3	p.Asp1521Gly	rs1434924094	missense variant	-	NC_000014.9:g.95096358T>C	TOPMed
DICER1	Q9UPY3	p.Asp1521Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096359C>A	NCI-TCGA
DICER1	Q9UPY3	p.Asp1522Glu	rs1364431792	missense variant	-	NC_000014.9:g.95096354G>C	gnomAD
DICER1	Q9UPY3	p.Glu1532Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096325T>C	NCI-TCGA
DICER1	Q9UPY3	p.Glu1533Asp	rs777054659	missense variant	-	NC_000014.9:g.95096321T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys1535Ter	RCV000851419	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000851419	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000494288	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Ter	RCV000494288	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000240909	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Ter	RCV000240909	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Tyr	rs1211879881	missense variant	-	NC_000014.9:g.95096316C>T	gnomAD
DICER1	Q9UPY3	p.Gly1536Asp	rs1486849070	missense variant	-	NC_000014.9:g.95096313C>T	gnomAD
DICER1	Q9UPY3	p.Val1537Ile	rs766652674	missense variant	-	NC_000014.9:g.95096311C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1538Glu	rs761038319	missense variant	-	NC_000014.9:g.95096306G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1539Lys	RCV000471006	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>T	ClinVar
DICER1	Q9UPY3	p.Thr1539Met	RCV000232937	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>A	ClinVar
DICER1	Q9UPY3	p.Thr1539Met	RCV000494503	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096304G>A	ClinVar
DICER1	Q9UPY3	p.Thr1539Met	rs747901058	missense variant	-	NC_000014.9:g.95096304G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1539Lys	rs747901058	missense variant	-	NC_000014.9:g.95096304G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1541Ter	RCV000493604	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.del1541del	RCV000493604	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.Lys1541Ter	RCV000240950	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.del1541del	RCV000240950	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.Lys1541Ter	rs886037718	stop gained	-	NC_000014.9:g.95096299T>A	-
DICER1	Q9UPY3	p.Gln1542Ter	RCV000240874	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096294del	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	rs1555367720	missense variant	-	NC_000014.9:g.95096290T>C	-
DICER1	Q9UPY3	p.Ile1544Asn	rs541733582	missense variant	-	NC_000014.9:g.95096289A>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1544Val	RCV000823820	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096290T>C	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	RCV000569957	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096290T>C	ClinVar
DICER1	Q9UPY3	p.Ser1545Ter	RCV000851420	frameshift	-	NC_000014.9:g.95096289dup	ClinVar
DICER1	Q9UPY3	p.Ser1545Ter	RCV000211108	frameshift	Pineoblastoma	NC_000014.9:g.95096289dup	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	RCV000539434	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096282G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	RCV000494101	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096283dup	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	rs1131691221	stop gained	-	NC_000014.9:g.95096283dup	-
DICER1	Q9UPY3	p.Tyr1546Ter	rs773822569	stop gained	-	NC_000014.9:g.95096282G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1548Phe	RCV000476197	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096276C>G	ClinVar
DICER1	Q9UPY3	p.Leu1548Phe	rs1060503619	missense variant	-	NC_000014.9:g.95096276C>G	-
DICER1	Q9UPY3	p.Thr1550Ile	COSM3499483	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096271G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Thr1550Ser	rs1435663556	missense variant	-	NC_000014.9:g.95096271G>C	TOPMed
DICER1	Q9UPY3	p.Gln1552Ter	RCV000851421	nonsense	-	NC_000014.9:g.95096266G>A	ClinVar
DICER1	Q9UPY3	p.Gln1552Ter	rs1131691208	stop gained	-	NC_000014.9:g.95096266G>A	-
DICER1	Q9UPY3	p.Cys1553Ter	RCV000494085	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096263dup	ClinVar
DICER1	Q9UPY3	p.Lys1557Glu	COSM6141744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096251T>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser1558Thr	rs779823153	missense variant	-	NC_000014.9:g.95096247C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1559Val	rs377409989	missense variant	-	NC_000014.9:g.95096245T>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ile1559Arg	rs1555367694	missense variant	-	NC_000014.9:g.95096244A>C	-
DICER1	Q9UPY3	p.Ile1559Met	rs755726950	missense variant	-	NC_000014.9:g.95096243T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1559Arg	RCV000570672	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096244A>C	ClinVar
DICER1	Q9UPY3	p.Ala1560Val	COSM3690264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096241G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ala1560Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096242C>T	NCI-TCGA
DICER1	Q9UPY3	p.Tyr1570Cys	rs765396989	missense variant	-	NC_000014.9:g.95096211T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1570Phe	rs765396989	missense variant	-	NC_000014.9:g.95096211T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1570Cys	RCV000233254	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096211T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1570Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95096210A>T	NCI-TCGA
DICER1	Q9UPY3	p.Ser1573Thr	RCV000553405	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096202C>G	ClinVar
DICER1	Q9UPY3	p.Ser1573Thr	rs1555367674	missense variant	-	NC_000014.9:g.95096202C>G	-
DICER1	Q9UPY3	p.Cys1574Ser	rs1236067722	missense variant	-	NC_000014.9:g.95096199C>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1575Arg	RCV000461106	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096197C>G	ClinVar
DICER1	Q9UPY3	p.Gly1575Arg	rs1060503609	missense variant	-	NC_000014.9:g.95096197C>G	-
DICER1	Q9UPY3	p.Glu1576Asp	rs753976236	missense variant	-	NC_000014.9:g.95096192C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1577Lys	rs1447972626	missense variant	-	NC_000014.9:g.95096190C>T	gnomAD
DICER1	Q9UPY3	p.Ala1578Thr	rs760830088	missense variant	-	NC_000014.9:g.95096188C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1579Val	rs1466171960	missense variant	-	NC_000014.9:g.95096184G>A	gnomAD
DICER1	Q9UPY3	p.Gln1580His	RCV000574285	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096180C>A	ClinVar
DICER1	Q9UPY3	p.Gln1580His	RCV000468344	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096180C>A	ClinVar
DICER1	Q9UPY3	p.Gln1580His	rs369465519	missense variant	-	NC_000014.9:g.95096180C>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1580Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096182G>T	NCI-TCGA
DICER1	Q9UPY3	p.Leu1583Arg	RCV000004725	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	ClinVar
DICER1	Q9UPY3	p.Leu1583Arg	RCV000240912	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096172A>C	ClinVar
DICER1	Q9UPY3	p.Leu1583Arg	rs137852976	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt,dbSNP
DICER1	Q9UPY3	p.Leu1583Arg	VAR_063150	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt
DICER1	Q9UPY3	p.Leu1583Arg	rs137852976	missense variant	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95096172A>C	-
DICER1	Q9UPY3	p.Ser1585Ter	RCV000240939	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096166G>C	ClinVar
DICER1	Q9UPY3	p.Ser1585Ter	RCV000211120	nonsense	Pineoblastoma	NC_000014.9:g.95096166G>C	ClinVar
DICER1	Q9UPY3	p.Ser1585Ter	rs875989779	stop gained	-	NC_000014.9:g.95096166G>C	-
DICER1	Q9UPY3	p.Gly1587Ter	RCV000691984	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096158del	ClinVar
DICER1	Q9UPY3	p.Gly1587Val	rs1237854658	missense variant	-	NC_000014.9:g.95096160C>A	TOPMed
DICER1	Q9UPY3	p.Gly1587Glu	rs1237854658	missense variant	-	NC_000014.9:g.95096160C>T	TOPMed
DICER1	Q9UPY3	p.Lys1589Met	rs768146959	missense variant	-	NC_000014.9:g.95096154T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1591Phe	rs1446931608	missense variant	-	NC_000014.9:g.95096149G>A	gnomAD
DICER1	Q9UPY3	p.Pro1592Leu	COSM1371847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096145G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Val1593Leu	RCV000472687	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096143C>G	ClinVar
DICER1	Q9UPY3	p.Val1593Leu	rs1060503644	missense variant	-	NC_000014.9:g.95096143C>G	gnomAD
DICER1	Q9UPY3	p.Thr1597Asn	rs1387955483	missense variant	-	NC_000014.9:g.95096130G>T	gnomAD
DICER1	Q9UPY3	p.Asp1598Asn	rs757177980	missense variant	-	NC_000014.9:g.95096128C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1599Gly	RCV000532384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>C	ClinVar
DICER1	Q9UPY3	p.Arg1599Trp	RCV000809626	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>A	ClinVar
DICER1	Q9UPY3	p.Arg1599Gly	RCV000562129	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096125G>C	ClinVar
DICER1	Q9UPY3	p.Arg1599Gln	RCV000457830	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>T	ClinVar
DICER1	Q9UPY3	p.Arg1599Gln	rs569615549	missense variant	-	NC_000014.9:g.95096124C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Leu	RCV000547257	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>A	ClinVar
DICER1	Q9UPY3	p.Arg1599Leu	rs569615549	missense variant	-	NC_000014.9:g.95096124C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Trp	rs587778230	missense variant	-	NC_000014.9:g.95096125G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Gly	rs587778230	missense variant	-	NC_000014.9:g.95096125G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1601Met	rs181018393	missense variant	-	NC_000014.9:g.95096118T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1601Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096117C>G	NCI-TCGA
DICER1	Q9UPY3	p.Lys1601Met	RCV000401929	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096118T>A	ClinVar
DICER1	Q9UPY3	p.Ala1602Gly	RCV000569711	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096115G>C	ClinVar
DICER1	Q9UPY3	p.Ala1602Thr	rs145669719	missense variant	-	NC_000014.9:g.95096116C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1602Gly	RCV000654386	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096115G>C	ClinVar
DICER1	Q9UPY3	p.Ala1602Thr	RCV000561152	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096116C>T	ClinVar
DICER1	Q9UPY3	p.Ala1602Thr	RCV000457948	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096116C>T	ClinVar
DICER1	Q9UPY3	p.Ala1602Gly	rs148955573	missense variant	-	NC_000014.9:g.95096115G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1603Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096113G>T	NCI-TCGA
DICER1	Q9UPY3	p.Leu1603Pro	rs1464874776	missense variant	-	NC_000014.9:g.95096112A>G	gnomAD
DICER1	Q9UPY3	p.Cys1604Ter	RCV000492888	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096108G>T	ClinVar
DICER1	Q9UPY3	p.Cys1604Ter	rs1131691201	stop gained	-	NC_000014.9:g.95096108G>T	-
DICER1	Q9UPY3	p.Cys1604Phe	rs1254200271	missense variant	-	NC_000014.9:g.95096109C>A	gnomAD
DICER1	Q9UPY3	p.Pro1605Arg	rs939314926	missense variant	-	NC_000014.9:g.95096106G>C	TOPMed
DICER1	Q9UPY3	p.Thr1606Ala	rs767907056	missense variant	-	NC_000014.9:g.95096104T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1607Gln	RCV000465086	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096100C>T	ClinVar
DICER1	Q9UPY3	p.Arg1607Gln	RCV000570497	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096100C>T	ClinVar
DICER1	Q9UPY3	p.Arg1607Trp	RCV000335071	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096101G>A	ClinVar
DICER1	Q9UPY3	p.Arg1607Gln	rs368963384	missense variant	-	NC_000014.9:g.95096100C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1607Trp	rs189119295	missense variant	-	NC_000014.9:g.95096101G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1608Asp	COSM5477045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096096C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asn1609Ser	RCV000552752	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096094T>C	ClinVar
DICER1	Q9UPY3	p.Asn1609Ser	rs1228069910	missense variant	-	NC_000014.9:g.95096094T>C	TOPMed
DICER1	Q9UPY3	p.Phe1610Leu	rs1314094025	missense variant	-	NC_000014.9:g.95096090G>C	TOPMed
DICER1	Q9UPY3	p.Asn1611Thr	rs763472931	missense variant	-	NC_000014.9:g.95096088T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1611Ser	rs763472931	missense variant	-	NC_000014.9:g.95096088T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1613Leu	rs775024028	missense variant	-	NC_000014.9:g.95096082T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1613Leu	RCV000575624	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096082T>A	ClinVar
DICER1	Q9UPY3	p.Gln1613Arg	rs775024028	missense variant	-	NC_000014.9:g.95096082T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1614Arg	RCV000531188	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096079T>C	ClinVar
DICER1	Q9UPY3	p.Gln1614Leu	rs769225805	missense variant	-	NC_000014.9:g.95096079T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1614Arg	rs769225805	missense variant	-	NC_000014.9:g.95096079T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1615Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096075C>A	NCI-TCGA
DICER1	Q9UPY3	p.Asn1616Ser	RCV000545218	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096073T>C	ClinVar
DICER1	Q9UPY3	p.Asn1616Ser	rs1257498722	missense variant	-	NC_000014.9:g.95096073T>C	TOPMed
DICER1	Q9UPY3	p.Leu1617Pro	RCV000560028	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096070A>G	ClinVar
DICER1	Q9UPY3	p.Leu1617Ile	COSM1371846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096071G>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Leu1617Pro	rs1555367614	missense variant	-	NC_000014.9:g.95096070A>G	-
DICER1	Q9UPY3	p.Leu1617His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096070A>T	NCI-TCGA
DICER1	Q9UPY3	p.Ser1618Ter	RCV000494069	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096067G>T	ClinVar
DICER1	Q9UPY3	p.Ser1618Leu	RCV000230338	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096067G>A	ClinVar
DICER1	Q9UPY3	p.Ser1618Ter	rs377205344	stop gained	-	NC_000014.9:g.95096067G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1618Leu	rs377205344	missense variant	-	NC_000014.9:g.95096067G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1619Met	rs1438625170	missense variant	-	NC_000014.9:g.95096065C>T	gnomAD
DICER1	Q9UPY3	p.Ser1620Asn	RCV000533667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096061C>T	ClinVar
DICER1	Q9UPY3	p.Ser1620Asn	rs1555367601	missense variant	-	NC_000014.9:g.95096061C>T	-
DICER1	Q9UPY3	p.Ala1622Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95096055G>T	NCI-TCGA
DICER1	Q9UPY3	p.Ala1624Pro	rs372967646	missense variant	-	NC_000014.9:g.95096050C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1624Pro	RCV000696826	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	RCV000566395	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Val	RCV000563354	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096049G>A	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	RCV000761082	missense variant	-	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Val	rs1555367596	missense variant	-	NC_000014.9:g.95096049G>A	-
DICER1	Q9UPY3	p.Ala1624Val	RCV000811928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096049G>A	ClinVar
DICER1	Q9UPY3	p.Ser1625Phe	RCV000543986	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>A	ClinVar
DICER1	Q9UPY3	p.Ser1625Cys	RCV000229012	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>C	ClinVar
DICER1	Q9UPY3	p.Ser1625Pro	RCV000471778	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096047A>G	ClinVar
DICER1	Q9UPY3	p.Ser1625Tyr	RCV000205591	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>T	ClinVar
DICER1	Q9UPY3	p.Ser1625Tyr	RCV000565933	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096046G>T	ClinVar
DICER1	Q9UPY3	p.Ser1625Cys	rs864622653	missense variant	-	NC_000014.9:g.95096046G>C	gnomAD
DICER1	Q9UPY3	p.Ser1625Tyr	rs864622653	missense variant	-	NC_000014.9:g.95096046G>T	gnomAD
DICER1	Q9UPY3	p.Ser1625Phe	rs864622653	missense variant	-	NC_000014.9:g.95096046G>A	gnomAD
DICER1	Q9UPY3	p.Ser1625Pro	rs529131866	missense variant	-	NC_000014.9:g.95096047A>G	1000Genomes,ExAC,TOPMed
DICER1	Q9UPY3	p.Val1626Met	RCV000562463	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096044C>T	ClinVar
DICER1	Q9UPY3	p.Val1626Gly	rs777737447	missense variant	-	NC_000014.9:g.95096043A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1626Met	rs1555367589	missense variant	-	NC_000014.9:g.95096044C>T	-
DICER1	Q9UPY3	p.Val1626Ala	rs777737447	missense variant	-	NC_000014.9:g.95096043A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1627Thr	COSM4053283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096041C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ser1628Gly	rs748079162	missense variant	-	NC_000014.9:g.95096038T>C	ExAC
DICER1	Q9UPY3	p.Ser1628Ile	rs1392384194	missense variant	-	NC_000014.9:g.95096037C>A	gnomAD
DICER1	Q9UPY3	p.Ser1629Leu	rs1167159136	missense variant	-	NC_000014.9:g.95096034G>A	gnomAD
DICER1	Q9UPY3	p.Arg1630His	RCV000565748	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096031C>T	ClinVar
DICER1	Q9UPY3	p.Arg1630His	RCV000559079	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096031C>T	ClinVar
DICER1	Q9UPY3	p.Arg1630Cys	RCV000571126	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096032G>A	ClinVar
DICER1	Q9UPY3	p.Arg1630Cys	RCV000467108	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096032G>A	ClinVar
DICER1	Q9UPY3	p.Arg1630Cys	rs549532374	missense variant	-	NC_000014.9:g.95096032G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1630His	rs368343829	missense variant	-	NC_000014.9:g.95096031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1630Leu	rs368343829	missense variant	-	NC_000014.9:g.95096031C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1631Ala	RCV000301109	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	RCV000611518	missense variant	-	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	RCV000205231	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	rs145551486	missense variant	-	NC_000014.9:g.95096029A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1631Ala	RCV000567615	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	RCV000476667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096026A>G	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	RCV000568973	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096026A>G	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	rs545392797	missense variant	-	NC_000014.9:g.95096026A>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val1633Ile	RCV000466854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096023C>T	ClinVar
DICER1	Q9UPY3	p.Val1633Ile	rs1060503643	missense variant	-	NC_000014.9:g.95096023C>T	-
DICER1	Q9UPY3	p.Leu1634Ser	rs149723645	missense variant	-	NC_000014.9:g.95096019A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1634Ser	RCV000234713	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096019A>G	ClinVar
DICER1	Q9UPY3	p.Lys1635Asn	RCV000706254	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096015T>G	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	RCV000493303	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	RCV000228543	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Ser1637Trp	rs140875148	missense variant	-	NC_000014.9:g.95096010G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1637Leu	rs140875148	missense variant	-	NC_000014.9:g.95096010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1637Leu	RCV000391880	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Tyr1639Cys	rs1350329738	missense variant	-	NC_000014.9:g.95096004T>C	gnomAD
DICER1	Q9UPY3	p.Gly1640Ter	RCV000494196	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095997_95096000del	ClinVar
DICER1	Q9UPY3	p.Gly1640Ser	rs753190767	missense variant	-	NC_000014.9:g.95096002C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys1641Trp	RCV000120642	missense variant	-	NC_000014.9:g.95095997A>C	ClinVar
DICER1	Q9UPY3	p.Cys1641Gly	RCV000693614	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095999A>C	ClinVar
DICER1	Q9UPY3	p.Cys1641Trp	rs587778231	missense variant	-	NC_000014.9:g.95095997A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1649Val	rs146715213	missense variant	-	NC_000014.9:g.95095975T>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met1649Ile	RCV000537552	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095973C>T	ClinVar
DICER1	Q9UPY3	p.Met1649Val	RCV000465635	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095975T>C	ClinVar
DICER1	Q9UPY3	p.Met1649Ile	rs1274381410	missense variant	-	NC_000014.9:g.95095973C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1650Cys	RCV000575142	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095971A>C	ClinVar
DICER1	Q9UPY3	p.Phe1650Cys	rs760439905	missense variant	-	NC_000014.9:g.95095971A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1650Cys	RCV000547598	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095971A>C	ClinVar
DICER1	Q9UPY3	p.His1652Tyr	rs1372597986	missense variant	-	NC_000014.9:g.95095966G>A	gnomAD
DICER1	Q9UPY3	p.His1652Tyr	RCV000526051	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095966G>A	ClinVar
DICER1	Q9UPY3	p.Pro1653Gln	rs773113605	missense variant	-	NC_000014.9:g.95095962G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1654Ter	RCV000493443	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095960_95095961dup	ClinVar
DICER1	Q9UPY3	p.Asp1654Ter	RCV000240875	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095960_95095961dup	ClinVar
DICER1	Q9UPY3	p.Asp1654Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95095960C>A	NCI-TCGA
DICER1	Q9UPY3	p.Asp1656Gly	rs1431986661	missense variant	-	NC_000014.9:g.95095953T>C	gnomAD
DICER1	Q9UPY3	p.Asp1656TrpPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95095954_95095955insCA	NCI-TCGA
DICER1	Q9UPY3	p.Asp1656Asn	rs748106400	missense variant	-	NC_000014.9:g.95095954C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1657Thr	RCV000570749	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095950T>G	ClinVar
DICER1	Q9UPY3	p.Lys1657Thr	RCV000706444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095950T>G	ClinVar
DICER1	Q9UPY3	p.Lys1657Thr	rs778780063	missense variant	-	NC_000014.9:g.95095950T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1657Ile	rs778780063	missense variant	-	NC_000014.9:g.95095950T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1658Ala	rs768640549	missense variant	-	NC_000014.9:g.95095948T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.His1661Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95095939G>A	NCI-TCGA
DICER1	Q9UPY3	p.Ile1663Ter	RCV000493436	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095937del	ClinVar
DICER1	Q9UPY3	p.Ile1663Val	rs1555367530	missense variant	-	NC_000014.9:g.95095933T>C	-
DICER1	Q9UPY3	p.Ile1663Met	rs1253443798	missense variant	-	NC_000014.9:g.95095931T>C	gnomAD
DICER1	Q9UPY3	p.Ile1663Val	RCV000548128	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095933T>C	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	RCV000466310	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095929G>A	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	RCV000563940	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095929G>A	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	rs988095775	missense variant	-	NC_000014.9:g.95095929G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1665Arg	RCV000654387	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095927C>T	ClinVar
DICER1	Q9UPY3	p.Gly1665Ala	rs1256442548	missense variant	-	NC_000014.9:g.95095926C>G	gnomAD
DICER1	Q9UPY3	p.Gly1665Arg	rs1555367528	missense variant	-	NC_000014.9:g.95095927C>T	-
DICER1	Q9UPY3	p.Glu1667Ter	RCV000654412	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095921C>A	ClinVar
DICER1	Q9UPY3	p.Glu1667Asp	COSM1371845	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95095919T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1667Ter	rs1555367522	stop gained	-	NC_000014.9:g.95095921C>A	-
DICER1	Q9UPY3	p.Phe1669Leu	rs1210643393	missense variant	-	NC_000014.9:g.95095913A>C	TOPMed
DICER1	Q9UPY3	p.Lys1671Asn	RCV000654446	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095907C>G	ClinVar
DICER1	Q9UPY3	p.Lys1671Asn	rs751819396	missense variant	-	NC_000014.9:g.95095907C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1671Asn	rs751819396	missense variant	-	NC_000014.9:g.95095907C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1671Glu	rs1484737767	missense variant	-	NC_000014.9:g.95095909T>C	TOPMed
DICER1	Q9UPY3	p.Lys1672Asn	rs1438773814	missense variant	-	NC_000014.9:g.95095904T>A	gnomAD
DICER1	Q9UPY3	p.Lys1672Asn	RCV000526250	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095904T>A	ClinVar
DICER1	Q9UPY3	p.Asn1674Thr	RCV000693348	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095899T>G	ClinVar
DICER1	Q9UPY3	p.Asn1674Asp	RCV000541146	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095900T>C	ClinVar
DICER1	Q9UPY3	p.Asn1674Thr	rs1424203615	missense variant	-	NC_000014.9:g.95095899T>G	TOPMed
DICER1	Q9UPY3	p.Asn1674Asp	rs1555367519	missense variant	-	NC_000014.9:g.95095900T>C	-
DICER1	Q9UPY3	p.Tyr1675His	RCV000556278	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095897A>G	ClinVar
DICER1	Q9UPY3	p.Tyr1675His	rs1555367518	missense variant	-	NC_000014.9:g.95095897A>G	-
DICER1	Q9UPY3	p.Tyr1675Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95095896T>A	NCI-TCGA
DICER1	Q9UPY3	p.Arg1676Thr	RCV000571843	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095893C>G	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	RCV000687753	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095893C>G	ClinVar
DICER1	Q9UPY3	p.Arg1676Ser	RCV000540216	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095892T>A	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	rs375465466	missense variant	-	NC_000014.9:g.95095893C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1676Lys	rs375465466	missense variant	-	NC_000014.9:g.95095893C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1676Ser	rs1555367513	missense variant	-	NC_000014.9:g.95095892T>A	-
DICER1	Q9UPY3	p.Lys1678Asn	rs753111453	missense variant	-	NC_000014.9:g.95095886C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1678Glu	rs758758363	missense variant	-	NC_000014.9:g.95095888T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1679Ser	rs1424077753	missense variant	-	NC_000014.9:g.95095884T>C	TOPMed
DICER1	Q9UPY3	p.Lys1680Glu	RCV000476765	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095882T>C	ClinVar
DICER1	Q9UPY3	p.Lys1680Glu	RCV000566917	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095882T>C	ClinVar
DICER1	Q9UPY3	p.Lys1680Glu	rs1060503639	missense variant	-	NC_000014.9:g.95095882T>C	gnomAD
DICER1	Q9UPY3	p.Lys1680Gln	rs1060503639	missense variant	-	NC_000014.9:g.95095882T>G	gnomAD
DICER1	Q9UPY3	p.Ala1681Ser	RCV000570010	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095879C>A	ClinVar
DICER1	Q9UPY3	p.Ala1681Ser	rs1555367505	missense variant	-	NC_000014.9:g.95095879C>A	-
DICER1	Q9UPY3	p.Gln1685Ter	RCV000240917	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095867G>A	ClinVar
DICER1	Q9UPY3	p.Gln1685Ter	rs886037721	stop gained	-	NC_000014.9:g.95095867G>A	-
DICER1	Q9UPY3	p.Ala1686Val	RCV000555084	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095863G>A	ClinVar
DICER1	Q9UPY3	p.Ala1686Val	rs1555367498	missense variant	-	NC_000014.9:g.95095863G>A	-
DICER1	Q9UPY3	p.Thr1688Lys	RCV000532685	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095857G>T	ClinVar
DICER1	Q9UPY3	p.Thr1688Lys	rs1555367495	missense variant	-	NC_000014.9:g.95095857G>T	-
DICER1	Q9UPY3	p.His1693Asn	RCV000570079	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095843G>T	ClinVar
DICER1	Q9UPY3	p.His1693Arg	rs1359055040	missense variant	-	NC_000014.9:g.95095842T>C	gnomAD
DICER1	Q9UPY3	p.His1693Asn	rs1555367487	missense variant	-	NC_000014.9:g.95095843G>T	-
DICER1	Q9UPY3	p.Tyr1694Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95095839T>C	NCI-TCGA
DICER1	Q9UPY3	p.Thr1696Ser	rs1160478379	missense variant	-	NC_000014.9:g.95095833G>C	gnomAD
DICER1	Q9UPY3	p.Ile1697Val	RCV000553062	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095831T>C	ClinVar
DICER1	Q9UPY3	p.Ile1697Met	rs753251774	missense variant	-	NC_000014.9:g.95095829G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1697Val	rs1457257809	missense variant	-	NC_000014.9:g.95095831T>C	gnomAD
DICER1	Q9UPY3	p.Asp1699Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95095825C>T	NCI-TCGA
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000851423	nonsense	-	NC_000014.9:g.95094149G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000654463	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094149G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000627364	nonsense	-	NC_000014.9:g.95094149G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	rs875989780	stop gained	-	NC_000014.9:g.95094149G>C	-
DICER1	Q9UPY3	p.Tyr1701Ter	rs875989780	stop gained	-	NC_000014.9:g.95094149G>T	-
DICER1	Q9UPY3	p.Gln1702Ter	RCV000240919	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094148G>A	ClinVar
DICER1	Q9UPY3	p.Gln1702Ter	RCV000494634	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094148G>A	ClinVar
DICER1	Q9UPY3	p.Gln1702Ter	rs886037723	stop gained	-	NC_000014.9:g.95094148G>A	-
DICER1	Q9UPY3	p.Arg1703Ser	COSM3499482	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094145G>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg1703Cys	RCV000231550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094145G>A	ClinVar
DICER1	Q9UPY3	p.Arg1703Cys	rs878855272	missense variant	-	NC_000014.9:g.95094145G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1705Gln	COSM1371844	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094139C>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1705Lys	COSM959251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094139C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1705Ala	COSM959250	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094138T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1705Lys	VAR_067091	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Phe1706Leu	RCV000474549	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094134G>T	ClinVar
DICER1	Q9UPY3	p.Phe1706Leu	rs1060503635	missense variant	-	NC_000014.9:g.95094134G>T	-
DICER1	Q9UPY3	p.Gly1708Glu	RCV000240960	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094129C>T	ClinVar
DICER1	Q9UPY3	p.Gly1708Glu	rs886037724	missense variant	-	NC_000014.9:g.95094129C>T	-
DICER1	Q9UPY3	p.Asp1709Gly	RCV000546662	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094126T>C	ClinVar
DICER1	Q9UPY3	p.Asp1709Asn	COSM959249	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094127C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asp1709Gly	rs1555366979	missense variant	-	NC_000014.9:g.95094126T>C	-
DICER1	Q9UPY3	p.Asp1709Gly	rs1555366979	missense variant	-	NC_000014.9:g.95094126T>C	UniProt,dbSNP
DICER1	Q9UPY3	p.Asp1709Gly	VAR_067093	missense variant	-	NC_000014.9:g.95094126T>C	UniProt
DICER1	Q9UPY3	p.Asp1709Tyr	VAR_081918	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
DICER1	Q9UPY3	p.Asp1709Glu	VAR_067092	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1709Asn	VAR_067094	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1713Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95094115C>A	NCI-TCGA
DICER1	Q9UPY3	p.Asp1713Val	VAR_081919	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
DICER1	Q9UPY3	p.Tyr1714His	rs1433832479	missense variant	-	NC_000014.9:g.95094112A>G	gnomAD
DICER1	Q9UPY3	p.Tyr1714SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95094112_95094113insGTGCT	NCI-TCGA
DICER1	Q9UPY3	p.Tyr1714Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95094110_95094111insT	NCI-TCGA
DICER1	Q9UPY3	p.Leu1715Arg	rs1269643869	missense variant	-	NC_000014.9:g.95094108A>C	gnomAD
DICER1	Q9UPY3	p.Lys1718Arg	rs1488309058	missense variant	-	NC_000014.9:g.95094099T>C	gnomAD
DICER1	Q9UPY3	p.Glu1722Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95094088C>T	NCI-TCGA
DICER1	Q9UPY3	p.Asp1723Glu	rs1555366914	missense variant	-	NC_000014.9:g.95094083G>C	-
DICER1	Q9UPY3	p.Asp1723Glu	RCV000535105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094083G>C	ClinVar
DICER1	Q9UPY3	p.Pro1724Ala	rs1207697357	missense variant	-	NC_000014.9:g.95094082G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro1724Gln	RCV000545467	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094081G>T	ClinVar
DICER1	Q9UPY3	p.Pro1724Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95094082G>A	NCI-TCGA
DICER1	Q9UPY3	p.Pro1724Arg	rs749900564	missense variant	-	NC_000014.9:g.95094081G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1724Gln	rs749900564	missense variant	-	NC_000014.9:g.95094081G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1725Trp	rs756827508	missense variant	-	NC_000014.9:g.95094079G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1725Gln	rs751273916	missense variant	-	NC_000014.9:g.95094078C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1726Leu	RCV000557161	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094075T>A	ClinVar
DICER1	Q9UPY3	p.Gln1726Leu	rs1555366877	missense variant	-	NC_000014.9:g.95094075T>A	-
DICER1	Q9UPY3	p.His1727Arg	RCV000701569	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094072T>C	ClinVar
DICER1	Q9UPY3	p.His1727Pro	rs1262583273	missense variant	-	NC_000014.9:g.95094072T>G	TOPMed
DICER1	Q9UPY3	p.Ser1728Phe	rs762801582	missense variant	-	NC_000014.9:g.95094069G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1729Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95094066G>T	NCI-TCGA
DICER1	Q9UPY3	p.Val1731Leu	RCV000550226	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094061C>G	ClinVar
DICER1	Q9UPY3	p.Val1731SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95094061C>-	NCI-TCGA
DICER1	Q9UPY3	p.Val1731Leu	rs1555366846	missense variant	-	NC_000014.9:g.95094061C>G	-
DICER1	Q9UPY3	p.del1732del	RCV000240897	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
DICER1	Q9UPY3	p.Leu1732Ter	RCV000240897	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
DICER1	Q9UPY3	p.Asp1734ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95094040_95094053CAGACCGCAGGTCT>-	NCI-TCGA
DICER1	Q9UPY3	p.Asn1742Ser	COSM1300934	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094027T>C	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Thr1743Ser	rs1196791933	missense variant	-	NC_000014.9:g.95094025T>A	gnomAD
DICER1	Q9UPY3	p.Phe1745Ter	RCV000493704	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094019del	ClinVar
DICER1	Q9UPY3	p.Ser1747Leu	COSM213707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094012G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Ala1749Thr	rs1161123623	missense variant	-	NC_000014.9:g.95094007C>T	TOPMed
DICER1	Q9UPY3	p.Val1750Ile	RCV000572213	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094004C>T	ClinVar
DICER1	Q9UPY3	p.Val1750Ile	RCV000534697	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094004C>T	ClinVar
DICER1	Q9UPY3	p.Val1750Ile	rs1184678913	missense variant	-	NC_000014.9:g.95094004C>T	gnomAD
DICER1	Q9UPY3	p.del1751del	RCV000240933	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
DICER1	Q9UPY3	p.Lys1751Ter	RCV000240933	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
DICER1	Q9UPY3	p.Asp1753Glu	RCV000527854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093993G>C	ClinVar
DICER1	Q9UPY3	p.Asp1753Glu	rs1165221864	missense variant	-	NC_000014.9:g.95093993G>C	TOPMed
DICER1	Q9UPY3	p.Asp1753Asn	rs1460430963	missense variant	-	NC_000014.9:g.95093995C>T	TOPMed
DICER1	Q9UPY3	p.Asp1753Asn	RCV000549329	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093995C>T	ClinVar
DICER1	Q9UPY3	p.Lys1756Arg	rs1423918933	missense variant	-	NC_000014.9:g.95093985T>C	gnomAD
DICER1	Q9UPY3	p.Lys1759Arg	RCV000120643	missense variant	-	NC_000014.9:g.95093976T>C	ClinVar
DICER1	Q9UPY3	p.Lys1759Arg	rs144259142	missense variant	-	NC_000014.9:g.95093976T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1761Ile	RCV000654389	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093971C>T	ClinVar
DICER1	Q9UPY3	p.Val1761Ala	rs1555366735	missense variant	-	NC_000014.9:g.95093970A>G	-
DICER1	Q9UPY3	p.Val1761Ile	rs1555366740	missense variant	-	NC_000014.9:g.95093971C>T	-
DICER1	Q9UPY3	p.Val1761Ala	RCV000565847	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093970A>G	ClinVar
DICER1	Q9UPY3	p.Glu1764Ala	RCV000462050	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093961T>G	ClinVar
DICER1	Q9UPY3	p.Glu1764Ala	rs1060503637	missense variant	-	NC_000014.9:g.95093961T>G	-
DICER1	Q9UPY3	p.His1767Gln	RCV000461220	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093951A>C	ClinVar
DICER1	Q9UPY3	p.His1767Ter	RCV000493189	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.del1767del	RCV000240869	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.His1767Ter	RCV000240869	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.del1767del	RCV000493189	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.His1767Gln	rs1060503656	missense variant	-	NC_000014.9:g.95093951A>C	-
DICER1	Q9UPY3	p.His1767Arg	rs1296798488	missense variant	-	NC_000014.9:g.95093952T>C	TOPMed
DICER1	Q9UPY3	p.Phe1772Ter	RCV000229765	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093937_95093938del	ClinVar
DICER1	Q9UPY3	p.Phe1772Ter	RCV000657418	frameshift	-	NC_000014.9:g.95093937_95093938del	ClinVar
DICER1	Q9UPY3	p.Leu1777Phe	RCV000227591	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093923G>A	ClinVar
DICER1	Q9UPY3	p.Leu1777Val	rs183879938	missense variant	-	NC_000014.9:g.95093923G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1777His	rs780545199	missense variant	-	NC_000014.9:g.95093922A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1777Phe	rs183879938	missense variant	-	NC_000014.9:g.95093923G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1779Glu	RCV000525934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093917T>C	ClinVar
DICER1	Q9UPY3	p.Lys1779Glu	rs1555366685	missense variant	-	NC_000014.9:g.95093917T>C	-
DICER1	Q9UPY3	p.Met1782Ile	RCV000540658	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093906C>T	ClinVar
DICER1	Q9UPY3	p.Met1782Ile	rs1555366679	missense variant	-	NC_000014.9:g.95093906C>T	-
DICER1	Q9UPY3	p.Gln1783Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95093905G>A	NCI-TCGA
DICER1	Q9UPY3	p.Arg1790Lys	RCV000692578	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091361C>T	ClinVar
DICER1	Q9UPY3	p.Arg1791Ile	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95091358C>A	NCI-TCGA
DICER1	Q9UPY3	p.Ser1792Cys	RCV000565494	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091355G>C	ClinVar
DICER1	Q9UPY3	p.Ser1792Pro	RCV000470444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091356A>G	ClinVar
DICER1	Q9UPY3	p.Ser1792Cys	rs1225830476	missense variant	-	NC_000014.9:g.95091355G>C	TOPMed
DICER1	Q9UPY3	p.Ser1792Pro	rs1060503651	missense variant	-	NC_000014.9:g.95091356A>G	-
DICER1	Q9UPY3	p.Glu1794Asp	rs766285402	missense variant	-	NC_000014.9:g.95091348C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1795Glu	rs1465785637	missense variant	-	NC_000014.9:g.95091345A>T	gnomAD
DICER1	Q9UPY3	p.Glu1796Lys	COSM699754	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091344C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1799Ter	RCV000240936	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
DICER1	Q9UPY3	p.del1799del	RCV000240936	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
DICER1	Q9UPY3	p.Asp1801Asn	COSM4053282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091329C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1803Lys	COSM959247	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091323C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Lys1806Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95091312C>A	NCI-TCGA
DICER1	Q9UPY3	p.Met1808Val	RCV000554604	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091308T>C	ClinVar
DICER1	Q9UPY3	p.Met1808Leu	rs763241498	missense variant	-	NC_000014.9:g.95091308T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1808Val	rs763241498	missense variant	-	NC_000014.9:g.95091308T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly1809Arg	COSM4169595	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091305C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asp1810His	COSM3370115	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091302C>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asp1810Tyr	COSM3744763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091302C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asp1810Val	COSM4169903	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091301T>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asp1810Ala	COSM959246	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091301T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Asp1810Asn	rs775912475	missense variant	-	NC_000014.9:g.95091302C>T	UniProt,dbSNP
DICER1	Q9UPY3	p.Asp1810Asn	VAR_067096	missense variant	-	NC_000014.9:g.95091302C>T	UniProt
DICER1	Q9UPY3	p.Asp1810Asn	rs775912475	missense variant	-	NC_000014.9:g.95091302C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1810His	VAR_067095	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1810Tyr	VAR_067097	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Ala	COSM959245	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091292T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1813Asp	COSM3738451	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091291C>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Glu1813Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95091292T>C	NCI-TCGA
DICER1	Q9UPY3	p.Glu1813Gly	VAR_067098	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Gln	VAR_067100	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Lys	VAR_067099	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Ser1814Leu	RCV000762934	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95091289G>A	ClinVar
DICER1	Q9UPY3	p.Ser1814Leu	RCV000851480	missense variant	-	NC_000014.9:g.95091289G>A	ClinVar
DICER1	Q9UPY3	p.Ser1814Leu	rs1060503625	missense variant	-	NC_000014.9:g.95091289G>A	-
DICER1	Q9UPY3	p.Leu1815Phe	rs1282259682	missense variant	-	NC_000014.9:g.95091287G>A	gnomAD
DICER1	Q9UPY3	p.Ala1816Val	rs1244996889	missense variant	-	NC_000014.9:g.95091283G>A	gnomAD
DICER1	Q9UPY3	p.Gly1817Asp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95091280C>T	NCI-TCGA
DICER1	Q9UPY3	p.Met1821Val	RCV000457347	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>C	ClinVar
DICER1	Q9UPY3	p.Met1821Leu	RCV000458610	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>G	ClinVar
DICER1	Q9UPY3	p.Met1821Ile	COSM959243	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091267C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Met1821Lys	rs1412965790	missense variant	-	NC_000014.9:g.95091268A>T	TOPMed
DICER1	Q9UPY3	p.Met1821Val	rs1060503604	missense variant	-	NC_000014.9:g.95091269T>C	gnomAD
DICER1	Q9UPY3	p.Met1821Leu	rs1060503604	missense variant	-	NC_000014.9:g.95091269T>G	gnomAD
DICER1	Q9UPY3	p.Asp1822Gly	RCV000492838	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091265T>C	ClinVar
DICER1	Q9UPY3	p.Asp1822Val	RCV000240872	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091265T>A	ClinVar
DICER1	Q9UPY3	p.Asp1822Val	rs886037729	missense variant	-	NC_000014.9:g.95091265T>A	-
DICER1	Q9UPY3	p.Gly1824Val	RCV000564741	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091259C>A	ClinVar
DICER1	Q9UPY3	p.Gly1824Val	RCV000459341	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091259C>A	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	RCV000693668	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091260C>G	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	RCV000563783	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091260C>G	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	rs752411788	missense variant	-	NC_000014.9:g.95091260C>G	-
DICER1	Q9UPY3	p.Gly1824Val	rs377685186	missense variant	-	NC_000014.9:g.95091259C>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1826Pro	COSM4053281	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091254A>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Leu1827Ter	RCV000529758	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091251del	ClinVar
DICER1	Q9UPY3	p.Leu1827Ter	RCV000851481	frameshift	-	NC_000014.9:g.95091251del	ClinVar
DICER1	Q9UPY3	p.Thr1829Ile	RCV000654397	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091244G>A	ClinVar
DICER1	Q9UPY3	p.Thr1829Ile	rs1555366196	missense variant	-	NC_000014.9:g.95091244G>A	-
DICER1	Q9UPY3	p.Gln1832Ter	RCV000474798	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091236G>A	ClinVar
DICER1	Q9UPY3	p.Gln1832Glu	rs1060503583	missense variant	-	NC_000014.9:g.95091236G>C	gnomAD
DICER1	Q9UPY3	p.Gln1832Ter	rs1060503583	stop gained	-	NC_000014.9:g.95091236G>A	gnomAD
DICER1	Q9UPY3	p.Gln1832His	rs1344743618	missense variant	-	NC_000014.9:g.95091234C>G	gnomAD
DICER1	Q9UPY3	p.Gln1832Arg	RCV000700964	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091235T>C	ClinVar
DICER1	Q9UPY3	p.Val1833Gly	rs1324448543	missense variant	-	NC_000014.9:g.95091232A>C	gnomAD
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000851482	missense variant	-	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Ser	RCV000570256	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>G	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000460203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000569795	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	rs747510783	missense variant	-	NC_000014.9:g.95091226T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1835Ser	rs747510783	missense variant	-	NC_000014.9:g.95091226T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1835His	rs1407335437	missense variant	-	NC_000014.9:g.95091227A>G	gnomAD
DICER1	Q9UPY3	p.Tyr1835Ser	RCV000687902	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>G	ClinVar
DICER1	Q9UPY3	p.Tyr1835Ter	RCV000706258	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091223_95091226del	ClinVar
DICER1	Q9UPY3	p.Pro1836Leu	rs187288681	missense variant	-	NC_000014.9:g.95091223G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1836His	rs187288681	missense variant	-	NC_000014.9:g.95091223G>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met1837Ile	rs747798126	missense variant	-	NC_000014.9:g.95091219C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1838Ile	rs1187244456	missense variant	-	NC_000014.9:g.95091216C>T	gnomAD
DICER1	Q9UPY3	p.Arg1839Gln	RCV000476806	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091214C>T	ClinVar
DICER1	Q9UPY3	p.Arg1839Gln	RCV000566657	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091214C>T	ClinVar
DICER1	Q9UPY3	p.Arg1839Trp	RCV000698396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091215G>A	ClinVar
DICER1	Q9UPY3	p.Arg1839Trp	rs1447120867	missense variant	-	NC_000014.9:g.95091215G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1839Trp	RCV000572507	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091215G>A	ClinVar
DICER1	Q9UPY3	p.Arg1839Gln	rs587778233	missense variant	-	NC_000014.9:g.95091214C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1841Pro	rs754642180	missense variant	-	NC_000014.9:g.95091208A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1842Val	rs749059266	missense variant	-	NC_000014.9:g.95091206T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1842Val	RCV000227985	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091206T>C	ClinVar
DICER1	Q9UPY3	p.Glu1843Asp	COSM4910183	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091108T>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Lys1844Asn	rs1360182417	missense variant	-	NC_000014.9:g.95091105C>G	gnomAD
DICER1	Q9UPY3	p.Ala1847Thr	rs1412433775	missense variant	-	NC_000014.9:g.95091098C>T	TOPMed
DICER1	Q9UPY3	p.Asn1848Asp	rs748931250	missense variant	-	NC_000014.9:g.95091095T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1851Cys	COSM699755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091086G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg1851Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95091085C>A	NCI-TCGA
DICER1	Q9UPY3	p.Arg1851His	rs1426678586	missense variant	-	NC_000014.9:g.95091085C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1855Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95091074G>A	NCI-TCGA
DICER1	Q9UPY3	p.Met1860Ile	rs1228225906	missense variant	-	NC_000014.9:g.95091057C>T	TOPMed
DICER1	Q9UPY3	p.Glu1861Lys	COSM2152526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091056C>T	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Pro1869Leu	rs1459884777	missense variant	-	NC_000014.9:g.95090661G>A	gnomAD
DICER1	Q9UPY3	p.Pro1869Leu	RCV000654379	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090661G>A	ClinVar
DICER1	Q9UPY3	p.Pro1869Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95090662G>A	NCI-TCGA
DICER1	Q9UPY3	p.Ala1870Ser	rs1555366012	missense variant	-	NC_000014.9:g.95090659C>A	-
DICER1	Q9UPY3	p.Asp1875Tyr	rs745601023	missense variant	-	NC_000014.9:g.95090644C>A	ExAC
DICER1	Q9UPY3	p.Asp1875Asn	rs745601023	missense variant	-	NC_000014.9:g.95090644C>T	ExAC
DICER1	Q9UPY3	p.Gly1876Arg	rs770962059	missense variant	-	NC_000014.9:g.95090641C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly1876Ala	rs1238684646	missense variant	-	NC_000014.9:g.95090640C>G	gnomAD
DICER1	Q9UPY3	p.Thr1881Ala	rs746992218	missense variant	-	NC_000014.9:g.95090626T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1883Gly	rs1299000813	missense variant	-	NC_000014.9:g.95090619T>C	gnomAD
DICER1	Q9UPY3	p.Glu1883Asp	rs753959216	missense variant	-	NC_000014.9:g.95090618T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1885Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95090613A>G	NCI-TCGA
DICER1	Q9UPY3	p.Gly1886Arg	RCV000696981	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090611C>G	ClinVar
DICER1	Q9UPY3	p.Lys1889Thr	COSM280382	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95090601T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Lys1889AsnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.95090600T>-	NCI-TCGA
DICER1	Q9UPY3	p.Gly1892Ala	rs756385724	missense variant	-	NC_000014.9:g.95090592C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1893Ala	RCV000823022	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090589A>G	ClinVar
DICER1	Q9UPY3	p.Val1893Ala	RCV000575385	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090589A>G	ClinVar
DICER1	Q9UPY3	p.Val1893Ile	RCV000561341	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090590C>T	ClinVar
DICER1	Q9UPY3	p.Val1893Ile	rs1555365992	missense variant	-	NC_000014.9:g.95090590C>T	-
DICER1	Q9UPY3	p.Val1893Ala	rs1555365989	missense variant	-	NC_000014.9:g.95090589A>G	-
DICER1	Q9UPY3	p.Val1893Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95090590C>A	NCI-TCGA
DICER1	Q9UPY3	p.Arg1895Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.95090584G>A	NCI-TCGA
DICER1	Q9UPY3	p.Arg1898Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.95090574C>A	NCI-TCGA
DICER1	Q9UPY3	p.Arg1898Gly	VAR_081920	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Ser1902Phe	COSM4402578	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95090562G>A	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg1906Ser	COSM3370114	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95090549T>G	NCI-TCGA Cosmic
DICER1	Q9UPY3	p.Arg1910Pro	RCV000556473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090538C>G	ClinVar
DICER1	Q9UPY3	p.Arg1910Ter	rs762281340	stop gained	-	NC_000014.9:g.95090539G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1910Pro	rs1555365979	missense variant	-	NC_000014.9:g.95090538C>G	-
DICER1	Q9UPY3	p.Lys1913Arg	RCV000474828	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	RCV000765190	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	RCV000564664	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	rs752116341	missense variant	-	NC_000014.9:g.95090529T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1913Arg	RCV000389746	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Asn1915Ser	rs1178537434	missense variant	-	NC_000014.9:g.95090523T>C	TOPMed
DICER1	Q9UPY3	p.Gln1916Ter	RCV000654413	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090521G>A	ClinVar
DICER1	Q9UPY3	p.Gln1916Ter	rs1253131536	stop gained	-	NC_000014.9:g.95090521G>A	TOPMed
DICER1	Q9UPY3	p.Pro1917Arg	RCV000564271	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090517G>C	ClinVar
DICER1	Q9UPY3	p.Pro1917Arg	rs1555365972	missense variant	-	NC_000014.9:g.95090517G>C	-
DICER1	Q9UPY3	p.Gln1918Arg	rs1451403510	missense variant	-	NC_000014.9:g.95090514T>C	gnomAD
DICER1	Q9UPY3	p.Gln1918Leu	rs1451403510	missense variant	-	NC_000014.9:g.95090514T>A	gnomAD
DICER1	Q9UPY3	p.Val1919Ile	rs762301997	missense variant	-	NC_000014.9:g.95090512C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1921Ser	RCV000574482	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090505T>C	ClinVar
DICER1	Q9UPY3	p.Asn1921Ser	RCV000538520	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090505T>C	ClinVar
DICER1	Q9UPY3	p.Asn1921His	rs775077210	missense variant	-	NC_000014.9:g.95090506T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1921Ser	rs764747360	missense variant	-	NC_000014.9:g.95090505T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1922Arg	rs912470196	missense variant	-	NC_000014.9:g.95090501G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1922Asn	rs1220636958	missense variant	-	NC_000014.9:g.95090502C>T	gnomAD
DICER1	Q9UPY3	p.Met1Thr	RCV000227003	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133457A>G	ClinVar
DICER1	Q9UPY3	p.Met1Thr	RCV000562389	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133457A>G	ClinVar
DICER1	Q9UPY3	p.Lys2Asn	rs1416298002	missense variant	-	NC_000014.9:g.95133453T>G	gnomAD
DICER1	Q9UPY3	p.Pro4Ser	rs772433602	missense variant	-	NC_000014.9:g.95133449G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu6Phe	rs777350127	missense variant	-	NC_000014.9:g.95133441C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln7Arg	RCV000206043	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133439T>C	ClinVar
DICER1	Q9UPY3	p.Gln7Arg	rs117358479	missense variant	-	NC_000014.9:g.95133439T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro8Ser	rs748788519	missense variant	-	NC_000014.9:g.95133437G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu9Phe	rs1482976224	missense variant	-	NC_000014.9:g.95133434G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu9Phe	RCV000654432	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133434G>A	ClinVar
DICER1	Q9UPY3	p.Gly13Asp	RCV000476538	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133421C>T	ClinVar
DICER1	Q9UPY3	p.Gly13Asp	rs1060503610	missense variant	-	NC_000014.9:g.95133421C>T	-
DICER1	Q9UPY3	p.Leu14Met	rs779753946	missense variant	-	NC_000014.9:g.95133419G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln15Arg	rs1555376589	missense variant	-	NC_000014.9:g.95133415T>C	-
DICER1	Q9UPY3	p.Gln15Arg	RCV000654403	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133415T>C	ClinVar
DICER1	Q9UPY3	p.Met17Leu	rs1555376587	missense variant	-	NC_000014.9:g.95133410T>G	-
DICER1	Q9UPY3	p.Met17Leu	RCV000654398	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133410T>G	ClinVar
DICER1	Q9UPY3	p.Pro19Thr	RCV000468835	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133404G>T	ClinVar
DICER1	Q9UPY3	p.Pro19Leu	RCV000120632	missense variant	-	NC_000014.9:g.95133403G>A	ClinVar
DICER1	Q9UPY3	p.Pro19Thr	rs1060503638	missense variant	-	NC_000014.9:g.95133404G>T	-
DICER1	Q9UPY3	p.Pro19Leu	rs587778227	missense variant	-	NC_000014.9:g.95133403G>A	gnomAD
DICER1	Q9UPY3	p.Ala20Val	RCV000120633	missense variant	-	NC_000014.9:g.95133400G>A	ClinVar
DICER1	Q9UPY3	p.Ala20Thr	rs1555376579	missense variant	-	NC_000014.9:g.95133401C>T	-
DICER1	Q9UPY3	p.Ala20Val	rs147660793	missense variant	-	NC_000014.9:g.95133400G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala20Thr	RCV000654440	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133401C>T	ClinVar
DICER1	Q9UPY3	p.Ser21Phe	rs1289924579	missense variant	-	NC_000014.9:g.95133397G>A	gnomAD
DICER1	Q9UPY3	p.Ser22Leu	RCV000461365	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133394G>A	ClinVar
DICER1	Q9UPY3	p.Ser22Leu	rs1060503626	missense variant	-	NC_000014.9:g.95133394G>A	gnomAD
DICER1	Q9UPY3	p.Pro23Ser	rs1555376567	missense variant	-	NC_000014.9:g.95133392G>A	-
DICER1	Q9UPY3	p.Pro23Ser	RCV000531961	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133392G>A	ClinVar
DICER1	Q9UPY3	p.Met24Val	RCV000226545	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133389T>C	ClinVar
DICER1	Q9UPY3	p.Met24Ile	RCV000572085	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133387C>T	ClinVar
DICER1	Q9UPY3	p.Met24Ile	RCV000804944	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133387C>T	ClinVar
DICER1	Q9UPY3	p.Met24Ile	rs751520020	missense variant	-	NC_000014.9:g.95133387C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Met24Thr	rs1349780844	missense variant	-	NC_000014.9:g.95133388A>G	gnomAD
DICER1	Q9UPY3	p.Met24Ile	rs751520020	missense variant	-	NC_000014.9:g.95133387C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Met24Val	RCV000563130	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133389T>C	ClinVar
DICER1	Q9UPY3	p.Met24Val	rs754439528	missense variant	-	NC_000014.9:g.95133389T>C	TOPMed
DICER1	Q9UPY3	p.Gly25Asp	RCV000561019	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133385C>T	ClinVar
DICER1	Q9UPY3	p.Gly25Asp	rs1555376566	missense variant	-	NC_000014.9:g.95133385C>T	-
DICER1	Q9UPY3	p.Pro26Leu	RCV000537230	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	RCV000565379	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	RCV000761003	missense variant	Medulloblastoma (MDB)	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	rs201358110	missense variant	-	NC_000014.9:g.95133382G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Phe27Leu	RCV000654388	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133378G>C	ClinVar
DICER1	Q9UPY3	p.Phe27Leu	rs1555376563	missense variant	-	NC_000014.9:g.95133378G>C	-
DICER1	Q9UPY3	p.Phe28Cys	rs61729796	missense variant	-	NC_000014.9:g.95133376A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe28Ser	RCV000460921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133376A>G	ClinVar
DICER1	Q9UPY3	p.Phe28Ser	rs61729796	missense variant	-	NC_000014.9:g.95133376A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe28Val	rs1333617601	missense variant	-	NC_000014.9:g.95133377A>C	gnomAD
DICER1	Q9UPY3	p.Gly29Ala	rs766491650	missense variant	-	NC_000014.9:g.95133373C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln33His	rs773456851	missense variant	-	NC_000014.9:g.95133360T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln34Ter	RCV000654373	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133359G>A	ClinVar
DICER1	Q9UPY3	p.Gln34Ter	rs1555376548	stop gained	-	NC_000014.9:g.95133359G>A	-
DICER1	Q9UPY3	p.Ile37Phe	RCV000471095	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133350T>A	ClinVar
DICER1	Q9UPY3	p.Ile37Phe	rs772381832	missense variant	-	NC_000014.9:g.95133350T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp39Gly	rs748564911	missense variant	-	NC_000014.9:g.95133343T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn40Asp	rs1482582825	missense variant	-	NC_000014.9:g.95133341T>C	gnomAD
DICER1	Q9UPY3	p.Thr43Arg	RCV000497812	missense variant	-	NC_000014.9:g.95133331G>C	ClinVar
DICER1	Q9UPY3	p.Thr43Met	RCV000571554	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133331G>A	ClinVar
DICER1	Q9UPY3	p.Thr43Met	RCV000474678	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133331G>A	ClinVar
DICER1	Q9UPY3	p.Thr43Met	rs367797765	missense variant	-	NC_000014.9:g.95133331G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr43Arg	rs367797765	missense variant	-	NC_000014.9:g.95133331G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys46Gln	RCV000699235	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133323T>G	ClinVar
DICER1	Q9UPY3	p.Val49Ala	RCV000456605	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132676A>G	ClinVar
DICER1	Q9UPY3	p.Val49Leu	RCV000563819	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132677C>G	ClinVar
DICER1	Q9UPY3	p.Val49Ala	rs1060503624	missense variant	-	NC_000014.9:g.95132676A>G	-
DICER1	Q9UPY3	p.Val49Leu	rs1555376413	missense variant	-	NC_000014.9:g.95132677C>G	-
DICER1	Q9UPY3	p.Ala55Pro	rs769164427	missense variant	-	NC_000014.9:g.95132659C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala55Thr	rs769164427	missense variant	-	NC_000014.9:g.95132659C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala55Thr	RCV000539270	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132659C>T	ClinVar
DICER1	Q9UPY3	p.Asp57His	rs570871959	missense variant	-	NC_000014.9:g.95132653C>G	1000Genomes,ExAC
DICER1	Q9UPY3	p.His58Asp	RCV000552718	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132650G>C	ClinVar
DICER1	Q9UPY3	p.His58Asp	rs1555376409	missense variant	-	NC_000014.9:g.95132650G>C	-
DICER1	Q9UPY3	p.Asn59Asp	rs1368593353	missense variant	-	NC_000014.9:g.95132647T>C	gnomAD
DICER1	Q9UPY3	p.Thr60Ile	RCV000230149	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132643G>A	ClinVar
DICER1	Q9UPY3	p.Thr60Ile	RCV000567350	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132643G>A	ClinVar
DICER1	Q9UPY3	p.Thr60Ile	rs587778228	missense variant	-	NC_000014.9:g.95132643G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile61Val	RCV000458877	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132641T>C	ClinVar
DICER1	Q9UPY3	p.Ile61Val	rs1060503646	missense variant	-	NC_000014.9:g.95132641T>C	-
DICER1	Q9UPY3	p.Val62Ile	RCV000654380	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132638C>T	ClinVar
DICER1	Q9UPY3	p.Val62Ile	rs746671039	missense variant	-	NC_000014.9:g.95132638C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu64Phe	RCV000531832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132630T>A	ClinVar
DICER1	Q9UPY3	p.Leu64Phe	rs1231822339	missense variant	-	NC_000014.9:g.95132630T>A	TOPMed
DICER1	Q9UPY3	p.Thr66Ala	RCV000654470	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132626T>C	ClinVar
DICER1	Q9UPY3	p.Thr66Ile	rs777362732	missense variant	-	NC_000014.9:g.95132625G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr66Ala	rs1555376402	missense variant	-	NC_000014.9:g.95132626T>C	-
DICER1	Q9UPY3	p.Thr71Arg	rs376657431	missense variant	-	NC_000014.9:g.95132610G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile73Thr	rs1312551730	missense variant	-	NC_000014.9:g.95132604A>G	TOPMed
DICER1	Q9UPY3	p.Ala74Leu	RCV000690532	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132601_95132602delinsAA	ClinVar
DICER1	Q9UPY3	p.Ala74Ser	rs202181696	missense variant	-	NC_000014.9:g.95132602C>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala74Val	rs200331768	missense variant	-	NC_000014.9:g.95132601G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val75Leu	rs899822269	missense variant	-	NC_000014.9:g.95132599C>A	TOPMed
DICER1	Q9UPY3	p.Thr78Ala	RCV000696264	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132590T>C	ClinVar
DICER1	Q9UPY3	p.Glu80Val	rs1249513421	missense variant	-	NC_000014.9:g.95132583T>A	TOPMed
DICER1	Q9UPY3	p.Ser82Tyr	rs751813700	missense variant	-	NC_000014.9:g.95132577G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr83Cys	RCV000574980	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132574T>C	ClinVar
DICER1	Q9UPY3	p.Tyr83Cys	rs373646414	missense variant	-	NC_000014.9:g.95132574T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr83Cys	RCV000231291	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132574T>C	ClinVar
DICER1	Q9UPY3	p.Ile85Met	RCV000573094	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132567G>C	ClinVar
DICER1	Q9UPY3	p.Ile85Met	rs763422772	missense variant	-	NC_000014.9:g.95132567G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg86Gly	RCV000569742	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132566T>C	ClinVar
DICER1	Q9UPY3	p.Arg86Ter	RCV000534037	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132566del	ClinVar
DICER1	Q9UPY3	p.Arg86Gly	rs1555376374	missense variant	-	NC_000014.9:g.95132566T>C	-
DICER1	Q9UPY3	p.Asp88Val	rs775828379	missense variant	-	NC_000014.9:g.95132559T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp88Val	RCV000472522	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132559T>A	ClinVar
DICER1	Q9UPY3	p.Arg91Lys	RCV000225966	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132550C>T	ClinVar
DICER1	Q9UPY3	p.Arg91Lys	rs878855252	missense variant	-	NC_000014.9:g.95132550C>T	gnomAD
DICER1	Q9UPY3	p.Gly93Glu	RCV000465833	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132544C>T	ClinVar
DICER1	Q9UPY3	p.Gly93Glu	RCV000564923	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132544C>T	ClinVar
DICER1	Q9UPY3	p.Gly93Glu	rs776219930	missense variant	-	NC_000014.9:g.95132544C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg95Ter	RCV000558690	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132542_95132543dup	ClinVar
DICER1	Q9UPY3	p.Thr96Met	rs770567567	missense variant	-	NC_000014.9:g.95132535G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val97Ala	RCV000464977	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132532A>G	ClinVar
DICER1	Q9UPY3	p.Val97Ala	rs1060503582	missense variant	-	NC_000014.9:g.95132532A>G	-
DICER1	Q9UPY3	p.Val100Gly	rs1390907504	missense variant	-	NC_000014.9:g.95132523A>C	TOPMed
DICER1	Q9UPY3	p.Ala107Val	RCV000465807	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131627G>A	ClinVar
DICER1	Q9UPY3	p.Ala107Val	rs1060503655	missense variant	-	NC_000014.9:g.95131627G>A	-
DICER1	Q9UPY3	p.Gln108Arg	RCV000688162	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131624T>C	ClinVar
DICER1	Q9UPY3	p.Val110Met	rs1555376190	missense variant	-	NC_000014.9:g.95131619C>T	-
DICER1	Q9UPY3	p.Val110Met	RCV000654424	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131619C>T	ClinVar
DICER1	Q9UPY3	p.Ala112Val	RCV000542109	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131612G>A	ClinVar
DICER1	Q9UPY3	p.Ala112Val	rs1555376185	missense variant	-	NC_000014.9:g.95131612G>A	-
DICER1	Q9UPY3	p.Asp118Ala	rs1442952372	missense variant	-	NC_000014.9:g.95131594T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp118Asn	rs557182925	missense variant	-	NC_000014.9:g.95131595C>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp118Val	rs1442952372	missense variant	-	NC_000014.9:g.95131594T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu119Phe	RCV000457510	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131592G>A	ClinVar
DICER1	Q9UPY3	p.Leu119His	rs760049904	missense variant	-	NC_000014.9:g.95131591A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu119Phe	rs1060503661	missense variant	-	NC_000014.9:g.95131592G>A	-
DICER1	Q9UPY3	p.Lys120Met	RCV000474331	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	RCV000566901	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	RCV000765199	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	rs1060503608	missense variant	-	NC_000014.9:g.95131588T>A	gnomAD
DICER1	Q9UPY3	p.Glu123Ter	rs1482258814	stop gained	-	NC_000014.9:g.95131580C>A	gnomAD
DICER1	Q9UPY3	p.Ser125Leu	RCV000654365	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131573G>A	ClinVar
DICER1	Q9UPY3	p.Ser125Leu	rs377669634	missense variant	-	NC_000014.9:g.95131573G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn126Ser	RCV000464564	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131570T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Asp	RCV000568690	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131571T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Asp	RCV000803170	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131571T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Ser	rs1060503593	missense variant	-	NC_000014.9:g.95131570T>C	-
DICER1	Q9UPY3	p.Asn126Asp	rs373734886	missense variant	-	NC_000014.9:g.95131571T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu127Val	RCV000559895	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131568G>C	ClinVar
DICER1	Q9UPY3	p.Leu127Val	RCV000567723	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131568G>C	ClinVar
DICER1	Q9UPY3	p.Leu127Val	rs560739585	missense variant	-	NC_000014.9:g.95131568G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu128Ala	RCV000702359	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131564T>G	ClinVar
DICER1	Q9UPY3	p.Glu128Ala	rs1345117803	missense variant	-	NC_000014.9:g.95131564T>G	TOPMed
DICER1	Q9UPY3	p.Ala131Val	rs774138190	missense variant	-	NC_000014.9:g.95131555G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu136Ala	RCV000554347	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131540T>G	ClinVar
DICER1	Q9UPY3	p.Glu136Gln	rs768445477	missense variant	-	NC_000014.9:g.95131541C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu136Ala	rs1037879170	missense variant	-	NC_000014.9:g.95131540T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe142Leu	rs780014291	missense variant	-	NC_000014.9:g.95131521A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr143Ala	RCV000458595	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131520T>C	ClinVar
DICER1	Q9UPY3	p.Thr143Ala	rs1060503612	missense variant	-	NC_000014.9:g.95131520T>C	gnomAD
DICER1	Q9UPY3	p.Lys144Met	RCV000471774	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131516T>A	ClinVar
DICER1	Q9UPY3	p.Lys144Asn	RCV000654392	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131515C>G	ClinVar
DICER1	Q9UPY3	p.Lys144Asn	rs370784723	missense variant	-	NC_000014.9:g.95131515C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys144Met	rs1060503629	missense variant	-	NC_000014.9:g.95131516T>A	-
DICER1	Q9UPY3	p.His145Arg	rs747179239	missense variant	-	NC_000014.9:g.95131513T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.His145Gln	rs1473045432	missense variant	-	NC_000014.9:g.95131512G>C	gnomAD
DICER1	Q9UPY3	p.Val147Phe	RCV000692554	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130192C>A	ClinVar
DICER1	Q9UPY3	p.Ile149Thr	RCV000463130	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130185A>G	ClinVar
DICER1	Q9UPY3	p.Ile149Thr	rs549001286	missense variant	-	NC_000014.9:g.95130185A>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met150Leu	RCV000809322	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130183T>A	ClinVar
DICER1	Q9UPY3	p.Met150Leu	RCV000568271	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130183T>A	ClinVar
DICER1	Q9UPY3	p.Met150Val	rs1447817443	missense variant	-	NC_000014.9:g.95130183T>C	gnomAD
DICER1	Q9UPY3	p.Met150Leu	rs1447817443	missense variant	-	NC_000014.9:g.95130183T>A	gnomAD
DICER1	Q9UPY3	p.Tyr153Cys	rs769827245	missense variant	-	NC_000014.9:g.95130173T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val154Ter	RCV000524590	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130172dup	ClinVar
DICER1	Q9UPY3	p.Ala155Thr	RCV000227833	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130168C>T	ClinVar
DICER1	Q9UPY3	p.Ala155Thr	rs745802492	missense variant	-	NC_000014.9:g.95130168C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys160Glu	rs777839118	missense variant	-	NC_000014.9:g.95130153T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn161Asp	rs373532001	missense variant	-	NC_000014.9:g.95130150T>C	ESP,ExAC
DICER1	Q9UPY3	p.Asn161His	rs373532001	missense variant	-	NC_000014.9:g.95130150T>G	ESP,ExAC
DICER1	Q9UPY3	p.Gly162Asp	rs142815547	missense variant	-	NC_000014.9:g.95130146C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly162Asp	RCV000494493	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130146C>T	ClinVar
DICER1	Q9UPY3	p.Tyr163Ter	RCV000205672	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130142G>C	ClinVar
DICER1	Q9UPY3	p.Tyr163His	rs1274642595	missense variant	-	NC_000014.9:g.95130144A>G	gnomAD
DICER1	Q9UPY3	p.Tyr163Ter	rs864622626	stop gained	-	NC_000014.9:g.95130142G>C	-
DICER1	Q9UPY3	p.Tyr163Asn	rs1274642595	missense variant	-	NC_000014.9:g.95130144A>T	gnomAD
DICER1	Q9UPY3	p.Ser165Pro	RCV000568030	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130138A>G	ClinVar
DICER1	Q9UPY3	p.Ser165Pro	RCV000476646	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130138A>G	ClinVar
DICER1	Q9UPY3	p.Ser165Pro	rs894664317	missense variant	-	NC_000014.9:g.95130138A>G	TOPMed
DICER1	Q9UPY3	p.Asp175Gly	rs766984054	missense variant	-	NC_000014.9:g.95130107T>C	ExAC
DICER1	Q9UPY3	p.Glu176Val	RCV000654370	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130104T>A	ClinVar
DICER1	Q9UPY3	p.Glu176Val	rs756586319	missense variant	-	NC_000014.9:g.95130104T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu176Lys	rs1177718322	missense variant	-	NC_000014.9:g.95130105C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.His178Leu	rs201239474	missense variant	-	NC_000014.9:g.95130098T>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His178Arg	rs201239474	missense variant	-	NC_000014.9:g.95130098T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala180Gly	rs375454363	missense variant	-	NC_000014.9:g.95130092G>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala180Val	rs375454363	missense variant	-	NC_000014.9:g.95130092G>A	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala180Ter	RCV000555663	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130096del	ClinVar
DICER1	Q9UPY3	p.Ile181Val	rs761253717	missense variant	-	NC_000014.9:g.95130090T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp183Glu	RCV000460261	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130082G>C	ClinVar
DICER1	Q9UPY3	p.Asp183Glu	rs1060503587	missense variant	-	NC_000014.9:g.95130082G>C	-
DICER1	Q9UPY3	p.Pro185Arg	rs1170562259	missense variant	-	NC_000014.9:g.95130077G>C	gnomAD
DICER1	Q9UPY3	p.Arg187Gln	RCV000543718	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130071C>T	ClinVar
DICER1	Q9UPY3	p.Arg187Gly	RCV000654367	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>C	ClinVar
DICER1	Q9UPY3	p.Arg187Gly	rs763801533	missense variant	-	NC_000014.9:g.95130072G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg187Pro	rs775207591	missense variant	-	NC_000014.9:g.95130071C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg187Gln	rs775207591	missense variant	-	NC_000014.9:g.95130071C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg187Ter	RCV000206588	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>A	ClinVar
DICER1	Q9UPY3	p.Arg187Ter	rs763801533	stop gained	-	NC_000014.9:g.95130072G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met190Lys	RCV000568748	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130062A>T	ClinVar
DICER1	Q9UPY3	p.Met190Lys	rs1555375918	missense variant	-	NC_000014.9:g.95130062A>T	-
DICER1	Q9UPY3	p.Met190Val	rs769477041	missense variant	-	NC_000014.9:g.95130063T>C	ExAC
DICER1	Q9UPY3	p.Lys191Arg	rs1162746497	missense variant	-	NC_000014.9:g.95130059T>C	TOPMed
DICER1	Q9UPY3	p.Asn195His	rs770842365	missense variant	-	NC_000014.9:g.95129623T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn195His	RCV000458293	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129623T>G	ClinVar
DICER1	Q9UPY3	p.Pro197Leu	RCV000472039	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129616G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Leu	rs1060503642	missense variant	-	NC_000014.9:g.95129616G>A	gnomAD
DICER1	Q9UPY3	p.Pro197Ser	RCV000548749	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129617G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ser	RCV000573122	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129617G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ser	rs375689793	missense variant	-	NC_000014.9:g.95129617G>A	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro197Ala	rs375689793	missense variant	-	NC_000014.9:g.95129617G>C	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser198Leu	rs1024665554	missense variant	-	NC_000014.9:g.95129613G>A	TOPMed
DICER1	Q9UPY3	p.Arg201Cys	RCV000654448	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129605G>A	ClinVar
DICER1	Q9UPY3	p.Arg201Cys	rs774514314	missense variant	-	NC_000014.9:g.95129605G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg201Pro	rs749484792	missense variant	-	NC_000014.9:g.95129604C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201His	rs749484792	missense variant	-	NC_000014.9:g.95129604C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201Leu	rs749484792	missense variant	-	NC_000014.9:g.95129604C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201Ser	rs774514314	missense variant	-	NC_000014.9:g.95129605G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser208Phe	rs1424652177	missense variant	-	NC_000014.9:g.95129583G>A	TOPMed
DICER1	Q9UPY3	p.Leu210Ser	RCV000575811	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129577A>G	ClinVar
DICER1	Q9UPY3	p.Leu210Ter	RCV000240938	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
DICER1	Q9UPY3	p.del210del	RCV000240938	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
DICER1	Q9UPY3	p.Leu210Ser	rs886037730	missense variant	-	NC_000014.9:g.95129577A>G	TOPMed
DICER1	Q9UPY3	p.Leu210Ter	rs886037730	stop gained	-	NC_000014.9:g.95129577A>C	TOPMed
DICER1	Q9UPY3	p.Asn211Asp	rs1392979238	missense variant	-	NC_000014.9:g.95129575T>C	TOPMed
DICER1	Q9UPY3	p.Asp215Asn	rs781713298	missense variant	-	NC_000014.9:g.95129563C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro216Thr	rs757700482	missense variant	-	NC_000014.9:g.95129560G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu217Val	RCV000692066	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129556T>A	ClinVar
DICER1	Q9UPY3	p.Glu218Lys	RCV000474822	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129554C>T	ClinVar
DICER1	Q9UPY3	p.Glu218Lys	rs747514493	missense variant	-	NC_000014.9:g.95129554C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu220Asp	RCV000542050	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129546T>G	ClinVar
DICER1	Q9UPY3	p.Glu220Asp	rs1555375819	missense variant	-	NC_000014.9:g.95129546T>G	-
DICER1	Q9UPY3	p.Glu221Val	RCV000814385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129544T>A	ClinVar
DICER1	Q9UPY3	p.Glu221Val	rs757925350	missense variant	-	NC_000014.9:g.95129544T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu221Val	RCV000569381	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129544T>A	ClinVar
DICER1	Q9UPY3	p.Lys222Glu	rs752322804	missense variant	-	NC_000014.9:g.95129542T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln224Leu	RCV000654408	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129535T>A	ClinVar
DICER1	Q9UPY3	p.Gln224Leu	rs1555375816	missense variant	-	NC_000014.9:g.95129535T>A	-
DICER1	Q9UPY3	p.Lys225Gln	rs764839440	missense variant	-	NC_000014.9:g.95129533T>G	ExAC
DICER1	Q9UPY3	p.Lys225Arg	rs1445983492	missense variant	-	NC_000014.9:g.95129532T>C	gnomAD
DICER1	Q9UPY3	p.Lys228Arg	RCV000463769	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129523T>C	ClinVar
DICER1	Q9UPY3	p.Lys228Arg	rs1060503659	missense variant	-	NC_000014.9:g.95129523T>C	-
DICER1	Q9UPY3	p.Lys231Arg	rs754799308	missense variant	-	NC_000014.9:g.95129514T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn233Ser	rs1465088683	missense variant	-	NC_000014.9:g.95129508T>C	gnomAD
DICER1	Q9UPY3	p.Thr238Ala	rs760627991	missense variant	-	NC_000014.9:g.95129494T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp239Gly	rs1555375788	missense variant	-	NC_000014.9:g.95129490T>C	-
DICER1	Q9UPY3	p.Asp239Gly	RCV000654445	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129490T>C	ClinVar
DICER1	Q9UPY3	p.Leu240Val	RCV000460684	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129488G>C	ClinVar
DICER1	Q9UPY3	p.Leu240Val	rs1060503615	missense variant	-	NC_000014.9:g.95129488G>C	-
DICER1	Q9UPY3	p.Val241Leu	rs1312732514	missense variant	-	NC_000014.9:g.95129485C>A	TOPMed
DICER1	Q9UPY3	p.Val242Ile	rs1290563406	missense variant	-	NC_000014.9:g.95129482C>T	gnomAD
DICER1	Q9UPY3	p.Asp244Gly	rs764223602	missense variant	-	NC_000014.9:g.95129475T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg245Ser	rs767605412	missense variant	-	NC_000014.9:g.95126748C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg245Ser	RCV000531119	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126748C>A	ClinVar
DICER1	Q9UPY3	p.Tyr246Cys	RCV000546158	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126746T>C	ClinVar
DICER1	Q9UPY3	p.Tyr246Cys	rs775370673	missense variant	-	NC_000014.9:g.95126746T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr246Phe	rs775370673	missense variant	-	NC_000014.9:g.95126746T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr247Ala	RCV000560829	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126744T>C	ClinVar
DICER1	Q9UPY3	p.Thr247Ala	rs369189695	missense variant	-	NC_000014.9:g.95126744T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser248Thr	rs759633210	missense variant	-	NC_000014.9:g.95126741A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser248Thr	RCV000463647	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126741A>T	ClinVar
DICER1	Q9UPY3	p.Gln249Ter	RCV000240901	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
DICER1	Q9UPY3	p.del249del	RCV000240901	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
DICER1	Q9UPY3	p.Gln249Ter	rs886037732	stop gained	-	NC_000014.9:g.95126738G>A	-
DICER1	Q9UPY3	p.Gln249Arg	rs776934552	missense variant	-	NC_000014.9:g.95126737T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys251Tyr	rs1167822359	missense variant	-	NC_000014.9:g.95126731C>T	gnomAD
DICER1	Q9UPY3	p.Cys251Arg	rs1353008772	missense variant	-	NC_000014.9:g.95126732A>G	-
DICER1	Q9UPY3	p.Cys251Arg	RCV000654449	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126732A>G	ClinVar
DICER1	Q9UPY3	p.Ile253Ter	RCV000654362	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126726dup	ClinVar
DICER1	Q9UPY3	p.Ile253Val	rs1418479189	missense variant	-	NC_000014.9:g.95126726T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly258Val	RCV000324795	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95126710C>A	ClinVar
DICER1	Q9UPY3	p.Gly258Val	rs188327838	missense variant	-	NC_000014.9:g.95126710C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro259Leu	RCV000558887	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126707G>A	ClinVar
DICER1	Q9UPY3	p.Pro259Leu	RCV000576081	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126707G>A	ClinVar
DICER1	Q9UPY3	p.Pro259Leu	rs566464225	missense variant	-	NC_000014.9:g.95126707G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu266Phe	rs772627278	missense variant	-	NC_000014.9:g.95126687G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu268Gly	RCV000470858	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126680T>C	ClinVar
DICER1	Q9UPY3	p.Glu268Lys	rs1251925935	missense variant	-	NC_000014.9:g.95126681C>T	gnomAD
DICER1	Q9UPY3	p.Glu268Gly	rs774554682	missense variant	-	NC_000014.9:g.95126680T>C	gnomAD
DICER1	Q9UPY3	p.Met272Ile	RCV000699253	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126667C>G	ClinVar
DICER1	Q9UPY3	p.Glu273Ala	RCV000691517	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126665T>G	ClinVar
DICER1	Q9UPY3	p.Leu274Val	RCV000568089	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126663A>C	ClinVar
DICER1	Q9UPY3	p.Leu274Val	RCV000474599	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126663A>C	ClinVar
DICER1	Q9UPY3	p.Leu274Val	rs778219828	missense variant	-	NC_000014.9:g.95126663A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu275Ter	rs1555375333	stop gained	-	NC_000014.9:g.95126660C>A	-
DICER1	Q9UPY3	p.Glu275Ter	RCV000536462	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126660C>A	ClinVar
DICER1	Q9UPY3	p.Ala277Val	RCV000476889	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126653G>A	ClinVar
DICER1	Q9UPY3	p.Ala277Val	rs986916694	missense variant	-	NC_000014.9:g.95126653G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu278Phe	RCV000240941	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126651G>A	ClinVar
DICER1	Q9UPY3	p.Leu278Phe	rs768248216	missense variant	-	NC_000014.9:g.95126651G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn279Tyr	RCV000687219	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126648T>A	ClinVar
DICER1	Q9UPY3	p.Asn279Tyr	rs1345404696	missense variant	-	NC_000014.9:g.95126648T>A	gnomAD
DICER1	Q9UPY3	p.Asn279Ser	rs1422024152	missense variant	-	NC_000014.9:g.95126647T>C	TOPMed
DICER1	Q9UPY3	p.Asp283Val	RCV000686266	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126635T>A	ClinVar
DICER1	Q9UPY3	p.Cys284Tyr	RCV000696424	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126632C>T	ClinVar
DICER1	Q9UPY3	p.Cys284Arg	rs1412252643	missense variant	-	NC_000014.9:g.95126633A>G	gnomAD
DICER1	Q9UPY3	p.Asn285Ser	rs748847398	missense variant	-	NC_000014.9:g.95126629T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn285Ser	RCV000571313	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126629T>C	ClinVar
DICER1	Q9UPY3	p.Ser287Cys	RCV000469952	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126623G>C	ClinVar
DICER1	Q9UPY3	p.Ser287Cys	rs1060503600	missense variant	-	NC_000014.9:g.95126623G>C	-
DICER1	Q9UPY3	p.Val288Ile	RCV000654405	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126621C>T	ClinVar
DICER1	Q9UPY3	p.Val288Ile	rs1555375302	missense variant	-	NC_000014.9:g.95126621C>T	-
DICER1	Q9UPY3	p.Arg293Ter	RCV000493010	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126608del	ClinVar
DICER1	Q9UPY3	p.Arg293Ter	RCV000493107	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126603_95126606del	ClinVar
DICER1	Q9UPY3	p.Arg293Gly	RCV000225818	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126606T>C	ClinVar
DICER1	Q9UPY3	p.Arg293Ter	RCV000240877	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126603_95126606del	ClinVar
DICER1	Q9UPY3	p.Arg293Gly	rs878855277	missense variant	-	NC_000014.9:g.95126606T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser295Cys	RCV000566029	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126599G>C	ClinVar
DICER1	Q9UPY3	p.Ser295Cys	rs548231008	missense variant	-	NC_000014.9:g.95126599G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser299Leu	RCV000232640	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126587G>A	ClinVar
DICER1	Q9UPY3	p.Ser299Leu	RCV000565567	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126587G>A	ClinVar
DICER1	Q9UPY3	p.Ser299Leu	rs755944755	missense variant	-	NC_000014.9:g.95126587G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys300Glu	rs1428486464	missense variant	-	NC_000014.9:g.95126585T>C	gnomAD
DICER1	Q9UPY3	p.Gln301Ter	RCV000526362	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126582G>A	ClinVar
DICER1	Q9UPY3	p.Gln301Ter	rs781144010	stop gained	-	NC_000014.9:g.95126582G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln301Glu	rs781144010	missense variant	-	NC_000014.9:g.95126582G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile302Leu	rs1555374864	missense variant	-	NC_000014.9:g.95124668T>G	-
DICER1	Q9UPY3	p.Ile302Leu	RCV000654366	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124668T>G	ClinVar
DICER1	Q9UPY3	p.Arg307Cys	RCV000568506	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124653G>A	ClinVar
DICER1	Q9UPY3	p.Arg307Cys	RCV000551570	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124653G>A	ClinVar
DICER1	Q9UPY3	p.Arg307His	RCV000570173	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124652C>T	ClinVar
DICER1	Q9UPY3	p.Arg307His	RCV000226203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124652C>T	ClinVar
DICER1	Q9UPY3	p.Arg307Cys	rs772431718	missense variant	-	NC_000014.9:g.95124653G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg307Gly	rs772431718	missense variant	-	NC_000014.9:g.95124653G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg307His	rs149718671	missense variant	-	NC_000014.9:g.95124652C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala308Thr	rs1047347414	missense variant	-	NC_000014.9:g.95124650C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala308Ser	rs1047347414	missense variant	-	NC_000014.9:g.95124650C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val309Ile	RCV000569084	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124647C>T	ClinVar
DICER1	Q9UPY3	p.Val309Ile	RCV000525307	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124647C>T	ClinVar
DICER1	Q9UPY3	p.Val309Ile	rs1181141404	missense variant	-	NC_000014.9:g.95124647C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu313Ter	RCV000493641	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124635dup	ClinVar
DICER1	Q9UPY3	p.Pro315Leu	rs956714281	missense variant	-	NC_000014.9:g.95124628G>A	TOPMed
DICER1	Q9UPY3	p.Trp316Ter	RCV000654416	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124625C>T	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	RCV000851487	nonsense	-	NC_000014.9:g.95124625C>T	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	RCV000493574	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124612_95124625del	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	rs1555374839	stop gained	-	NC_000014.9:g.95124625C>T	-
DICER1	Q9UPY3	p.Lys320Arg	RCV000463070	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124613T>C	ClinVar
DICER1	Q9UPY3	p.Lys320Glu	rs1461043339	missense variant	-	NC_000014.9:g.95124614T>C	gnomAD
DICER1	Q9UPY3	p.Lys320Arg	rs779851333	missense variant	-	NC_000014.9:g.95124613T>C	ExAC
DICER1	Q9UPY3	p.Val321Ala	rs769510530	missense variant	-	NC_000014.9:g.95124610A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly323Val	RCV000563980	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124604C>A	ClinVar
DICER1	Q9UPY3	p.Gly323Val	RCV000540314	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124604C>A	ClinVar
DICER1	Q9UPY3	p.Gly323Val	rs906299601	missense variant	-	NC_000014.9:g.95124604C>A	gnomAD
DICER1	Q9UPY3	p.Met324Ile	RCV000654395	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124600C>T	ClinVar
DICER1	Q9UPY3	p.Met324Ile	rs1555374806	missense variant	-	NC_000014.9:g.95124600C>T	-
DICER1	Q9UPY3	p.Met324Val	rs1452957166	missense variant	-	NC_000014.9:g.95124602T>C	gnomAD
DICER1	Q9UPY3	p.Met325Val	RCV000654430	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124599T>C	ClinVar
DICER1	Q9UPY3	p.Met325Val	rs1555374801	missense variant	-	NC_000014.9:g.95124599T>C	-
DICER1	Q9UPY3	p.Met325Ile	rs1260695579	missense variant	-	NC_000014.9:g.95124597C>T	gnomAD
DICER1	Q9UPY3	p.Val326Ile	RCV000654443	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>T	ClinVar
DICER1	Q9UPY3	p.Val326Ile	rs1555374798	missense variant	-	NC_000014.9:g.95124596C>T	-
DICER1	Q9UPY3	p.Val326Leu	rs1555374798	missense variant	-	NC_000014.9:g.95124596C>G	-
DICER1	Q9UPY3	p.Val326Leu	RCV000654393	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>G	ClinVar
DICER1	Q9UPY3	p.Val326Leu	RCV000566754	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124596C>G	ClinVar
DICER1	Q9UPY3	p.Arg327Gly	RCV000554989	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124593T>C	ClinVar
DICER1	Q9UPY3	p.Arg327Gly	rs1555374797	missense variant	-	NC_000014.9:g.95124593T>C	-
DICER1	Q9UPY3	p.Tyr332Ter	RCV000240904	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124576G>T	ClinVar
DICER1	Q9UPY3	p.Tyr332Ter	rs757094384	stop gained	-	NC_000014.9:g.95124576G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His335Arg	RCV000471033	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124568T>C	ClinVar
DICER1	Q9UPY3	p.His335Gln	RCV000696809	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124567A>C	ClinVar
DICER1	Q9UPY3	p.His335Arg	RCV000573917	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124568T>C	ClinVar
DICER1	Q9UPY3	p.His335Tyr	rs556647675	missense variant	-	NC_000014.9:g.95124569G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.His335Arg	rs1060503602	missense variant	-	NC_000014.9:g.95124568T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln337His	rs1383771176	missense variant	-	NC_000014.9:g.95124561T>G	gnomAD
DICER1	Q9UPY3	p.Gln337His	RCV000692200	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124561T>G	ClinVar
DICER1	Q9UPY3	p.Glu338Ala	RCV000120644	missense variant	-	NC_000014.9:g.95124559T>G	ClinVar
DICER1	Q9UPY3	p.Glu338Ala	rs587778232	missense variant	-	NC_000014.9:g.95124559T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu339Asp	RCV000654438	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124555C>G	ClinVar
DICER1	Q9UPY3	p.Glu339Leu	rs1555374783	missense variant	-	NC_000014.9:g.95124556_95124557delinsAA	-
DICER1	Q9UPY3	p.Glu339Asp	rs755007541	missense variant	-	NC_000014.9:g.95124555C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu339Leu	RCV000535438	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124556_95124557delinsAA	ClinVar
DICER1	Q9UPY3	p.Leu340Pro	rs753974932	missense variant	-	NC_000014.9:g.95124553A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg342Ter	RCV000493822	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124548del	ClinVar
DICER1	Q9UPY3	p.Phe344Ter	RCV000550323	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124545dup	ClinVar
DICER1	Q9UPY3	p.Phe344Ter	RCV000851433	frameshift	-	NC_000014.9:g.95124545dup	ClinVar
DICER1	Q9UPY3	p.Phe344Leu	RCV000533944	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124540A>C	ClinVar
DICER1	Q9UPY3	p.Phe344Leu	rs1161765608	missense variant	-	NC_000014.9:g.95124540A>C	gnomAD
DICER1	Q9UPY3	p.Leu346Phe	RCV000695217	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124534C>A	ClinVar
DICER1	Q9UPY3	p.Leu346Ter	rs1444222157	stop gained	-	NC_000014.9:g.95124535A>T	gnomAD
DICER1	Q9UPY3	p.Thr348Ile	rs1195740384	missense variant	-	NC_000014.9:g.95124529G>A	gnomAD
DICER1	Q9UPY3	p.Thr348Ala	rs1555374767	missense variant	-	NC_000014.9:g.95124530T>C	-
DICER1	Q9UPY3	p.Thr348Ala	RCV000548854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124530T>C	ClinVar
DICER1	Q9UPY3	p.Phe351Leu	rs1358609309	missense variant	-	NC_000014.9:g.95124519G>C	gnomAD
DICER1	Q9UPY3	p.His356Arg	RCV000561726	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124505T>C	ClinVar
DICER1	Q9UPY3	p.His356Arg	rs1212942890	missense variant	-	NC_000014.9:g.95124505T>C	TOPMed
DICER1	Q9UPY3	p.Ala357Val	RCV000542132	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124502G>A	ClinVar
DICER1	Q9UPY3	p.Ala357Thr	rs760821185	missense variant	-	NC_000014.9:g.95124503C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala357Val	rs1555374756	missense variant	-	NC_000014.9:g.95124502G>A	-
DICER1	Q9UPY3	p.Glu361Lys	RCV000566742	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124491C>T	ClinVar
DICER1	Q9UPY3	p.Glu361Lys	rs878855238	missense variant	-	NC_000014.9:g.95124491C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu361Lys	RCV000232128	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124491C>T	ClinVar
DICER1	Q9UPY3	p.His362Arg	RCV000474601	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124487T>C	ClinVar
DICER1	Q9UPY3	p.His362Arg	rs767729028	missense variant	-	NC_000014.9:g.95124487T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe363Leu	rs878855239	missense variant	-	NC_000014.9:g.95124483G>T	gnomAD
DICER1	Q9UPY3	p.Phe363Val	rs762290893	missense variant	-	NC_000014.9:g.95124485A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser364Leu	RCV000654434	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124481G>A	ClinVar
DICER1	Q9UPY3	p.Ser364Leu	rs1555374748	missense variant	-	NC_000014.9:g.95124481G>A	-
DICER1	Q9UPY3	p.Pro365Leu	RCV000467606	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124478G>A	ClinVar
DICER1	Q9UPY3	p.Pro365Leu	rs1060503598	missense variant	-	NC_000014.9:g.95124478G>A	gnomAD
DICER1	Q9UPY3	p.Pro365Arg	rs1060503598	missense variant	-	NC_000014.9:g.95124478G>C	gnomAD
DICER1	Q9UPY3	p.Ala366Val	rs774693190	missense variant	-	NC_000014.9:g.95124475G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu368Ile	RCV000574059	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124470G>T	ClinVar
DICER1	Q9UPY3	p.Leu368Val	RCV000547415	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124470G>C	ClinVar
DICER1	Q9UPY3	p.Leu368Val	rs1555374747	missense variant	-	NC_000014.9:g.95124470G>C	-
DICER1	Q9UPY3	p.Leu368Ile	rs1555374747	missense variant	-	NC_000014.9:g.95124470G>T	-
DICER1	Q9UPY3	p.Asp369Glu	RCV000525847	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124465G>T	ClinVar
DICER1	Q9UPY3	p.Asp369Gly	rs1441684309	missense variant	-	NC_000014.9:g.95124466T>C	TOPMed
DICER1	Q9UPY3	p.Asp369Glu	rs1555374745	missense variant	-	NC_000014.9:g.95124465G>T	-
DICER1	Q9UPY3	p.Leu370Pro	RCV000229751	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124463A>G	ClinVar
DICER1	Q9UPY3	p.Leu370Pro	rs878855240	missense variant	-	NC_000014.9:g.95124463A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val373Leu	RCV000540691	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124455C>G	ClinVar
DICER1	Q9UPY3	p.Val373Leu	rs369145814	missense variant	-	NC_000014.9:g.95124455C>G	ESP,TOPMed
DICER1	Q9UPY3	p.Pro375Arg	RCV000570796	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Pro375Arg	RCV000761116	missense variant	Neuroblastoma (NBLST1)	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Pro375Arg	rs148758903	missense variant	-	NC_000014.9:g.95124448G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro375Arg	RCV000231396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Val377Ala	rs1390995232	missense variant	-	NC_000014.9:g.95124442A>G	gnomAD
DICER1	Q9UPY3	p.Ile378Met	rs769457054	missense variant	-	NC_000014.9:g.95124438G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile378Asn	rs775070199	missense variant	-	NC_000014.9:g.95124439A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys379Ter	RCV000528753	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124437del	ClinVar
DICER1	Q9UPY3	p.Leu380Gln	rs1372798580	missense variant	-	NC_000014.9:g.95124433A>T	gnomAD
DICER1	Q9UPY3	p.Glu382Ter	RCV000493341	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.del382del	RCV000493341	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Ter	RCV000240937	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.del382del	RCV000240937	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Ter	rs886037667	stop gained	-	NC_000014.9:g.95124428C>A	gnomAD
DICER1	Q9UPY3	p.Glu382Lys	rs886037667	missense variant	-	NC_000014.9:g.95124428C>T	gnomAD
DICER1	Q9UPY3	p.Ile383Met	rs1219577339	missense variant	-	NC_000014.9:g.95124423G>C	gnomAD
DICER1	Q9UPY3	p.Arg385Gly	RCV000567826	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124419G>C	ClinVar
DICER1	Q9UPY3	p.Arg385Ser	rs746886465	missense variant	-	NC_000014.9:g.95124419G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385Cys	rs746886465	missense variant	-	NC_000014.9:g.95124419G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385Gly	rs746886465	missense variant	-	NC_000014.9:g.95124419G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385His	rs1273140956	missense variant	-	NC_000014.9:g.95124418C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys386Arg	RCV000654459	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124415T>C	ClinVar
DICER1	Q9UPY3	p.Lys386Arg	RCV000565916	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124415T>C	ClinVar
DICER1	Q9UPY3	p.Lys386Arg	rs777556655	missense variant	-	NC_000014.9:g.95124415T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys388Glu	RCV000654450	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124410T>C	ClinVar
DICER1	Q9UPY3	p.Lys388Glu	rs1555374717	missense variant	-	NC_000014.9:g.95124410T>C	-
DICER1	Q9UPY3	p.Tyr390His	RCV000851434	missense variant	-	NC_000014.9:g.95124404A>G	ClinVar
DICER1	Q9UPY3	p.Tyr390His	rs878855241	missense variant	-	NC_000014.9:g.95124404A>G	-
DICER1	Q9UPY3	p.Glu391Asp	rs1269365429	missense variant	-	NC_000014.9:g.95124399C>A	gnomAD
DICER1	Q9UPY3	p.Arg392Ter	RCV000851396	nonsense	-	NC_000014.9:g.95124398G>A	ClinVar
DICER1	Q9UPY3	p.Arg392Gln	rs142635816	missense variant	-	NC_000014.9:g.95124397C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg392Ter	rs1131691211	stop gained	-	NC_000014.9:g.95124398G>A	-
DICER1	Q9UPY3	p.Glu396Gly	RCV000552764	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385T>C	ClinVar
DICER1	Q9UPY3	p.del396del	RCV000493573	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Glu396Ter	RCV000493573	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Glu396Ter	RCV000240876	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.del396del	RCV000240876	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Glu396Gly	rs1555374707	missense variant	-	NC_000014.9:g.95124385T>C	-
DICER1	Q9UPY3	p.Ser397Asn	rs1347290726	missense variant	-	NC_000014.9:g.95124382C>T	gnomAD
DICER1	Q9UPY3	p.Ser397Asn	RCV000571846	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124382C>T	ClinVar
DICER1	Q9UPY3	p.Val398Ile	RCV000687412	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124380C>T	ClinVar
DICER1	Q9UPY3	p.Val398Ile	rs1404281132	missense variant	-	NC_000014.9:g.95124380C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu399Ala	rs1555374703	missense variant	-	NC_000014.9:g.95124376T>G	-
DICER1	Q9UPY3	p.Glu399Ala	RCV000654433	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124376T>G	ClinVar
DICER1	Q9UPY3	p.Tyr401Ter	RCV000240914	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124370dup	ClinVar
DICER1	Q9UPY3	p.Tyr401Ter	rs886037669	stop gained	-	NC_000014.9:g.95124370dup	-
DICER1	Q9UPY3	p.Tyr401Cys	rs1355146488	missense variant	-	NC_000014.9:g.95124370T>C	gnomAD
DICER1	Q9UPY3	p.Asn405Ser	rs1024226278	missense variant	-	NC_000014.9:g.95124358T>C	TOPMed
DICER1	Q9UPY3	p.Asn405His	RCV000574527	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124359T>G	ClinVar
DICER1	Q9UPY3	p.Asn405His	RCV000531172	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124359T>G	ClinVar
DICER1	Q9UPY3	p.Asn405His	rs551460901	missense variant	-	NC_000014.9:g.95124359T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn408Asp	rs750625383	missense variant	-	NC_000014.9:g.95124350T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser411Ala	RCV000692244	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124341A>C	ClinVar
DICER1	Q9UPY3	p.Trp412Ter	RCV000523257	frameshift	-	NC_000014.9:g.95124338del	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	RCV000704373	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124335T>G	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	rs1555374678	missense variant	-	NC_000014.9:g.95124335T>G	-
DICER1	Q9UPY3	p.Ser413Arg	RCV000574576	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124335T>G	ClinVar
DICER1	Q9UPY3	p.Asp414Gly	rs1344560237	missense variant	-	NC_000014.9:g.95124331T>C	TOPMed
DICER1	Q9UPY3	p.Glu416Ter	RCV000493435	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124326C>A	ClinVar
DICER1	Q9UPY3	p.Glu416Ter	rs1131691220	stop gained	-	NC_000014.9:g.95124326C>A	-
DICER1	Q9UPY3	p.Asp417Glu	RCV000541482	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124321A>C	ClinVar
DICER1	Q9UPY3	p.Asp417Glu	rs899404083	missense variant	-	NC_000014.9:g.95124321A>C	TOPMed
DICER1	Q9UPY3	p.Asp417Asn	rs150714784	missense variant	-	NC_000014.9:g.95124323C>T	ESP,ExAC
DICER1	Q9UPY3	p.Asp419Gly	RCV000466450	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124316T>C	ClinVar
DICER1	Q9UPY3	p.Asp419Gly	rs1060503623	missense variant	-	NC_000014.9:g.95124316T>C	-
DICER1	Q9UPY3	p.Glu420Lys	rs1555374663	missense variant	-	NC_000014.9:g.95124314C>T	-
DICER1	Q9UPY3	p.Glu420Gly	rs1280386879	missense variant	-	NC_000014.9:g.95124313T>C	TOPMed
DICER1	Q9UPY3	p.Glu420Lys	RCV000654435	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124314C>T	ClinVar
DICER1	Q9UPY3	p.Asp421Gly	rs764367623	missense variant	-	NC_000014.9:g.95124310T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu422Lys	RCV000704087	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124308C>T	ClinVar
DICER1	Q9UPY3	p.Ile424Thr	rs763512012	missense variant	-	NC_000014.9:g.95124301A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu425Lys	rs1435715607	missense variant	-	NC_000014.9:g.95124299C>T	gnomAD
DICER1	Q9UPY3	p.Glu426Lys	rs776158166	missense variant	-	NC_000014.9:g.95124296C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu426Gln	rs776158166	missense variant	-	NC_000014.9:g.95124296C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys429Met	rs1325355975	missense variant	-	NC_000014.9:g.95124286T>A	gnomAD
DICER1	Q9UPY3	p.Pro430Ala	RCV000462069	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124284G>C	ClinVar
DICER1	Q9UPY3	p.Pro430Ala	RCV000574018	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124284G>C	ClinVar
DICER1	Q9UPY3	p.Pro430Ala	rs1060503601	missense variant	-	NC_000014.9:g.95124284G>C	TOPMed
DICER1	Q9UPY3	p.Pro435Ser	rs1222748384	missense variant	-	NC_000014.9:g.95124269G>A	gnomAD
DICER1	Q9UPY3	p.Pro435Leu	VAR_081917	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Ser436Pro	RCV000465655	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124266A>G	ClinVar
DICER1	Q9UPY3	p.Ser436Pro	rs1060503595	missense variant	-	NC_000014.9:g.95124266A>G	-
DICER1	Q9UPY3	p.Ser436Phe	rs1213682122	missense variant	-	NC_000014.9:g.95124265G>A	gnomAD
DICER1	Q9UPY3	p.Thr439Ser	RCV000687785	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124256G>C	ClinVar
DICER1	Q9UPY3	p.Leu442Ter	RCV000493723	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124250dup	ClinVar
DICER1	Q9UPY3	p.Gly444Arg	rs1440194810	missense variant	-	NC_000014.9:g.95124242C>T	gnomAD
DICER1	Q9UPY3	p.Ile446Val	rs1376773899	missense variant	-	NC_000014.9:g.95124236T>C	TOPMed
DICER1	Q9UPY3	p.Val448Met	rs1555374618	missense variant	-	NC_000014.9:g.95124230C>T	-
DICER1	Q9UPY3	p.Val448Met	RCV000654369	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124230C>T	ClinVar
DICER1	Q9UPY3	p.Tyr452Ter	RCV000494670	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124216G>C	ClinVar
DICER1	Q9UPY3	p.Tyr452Ter	rs1131691219	stop gained	-	NC_000014.9:g.95124216G>C	-
DICER1	Q9UPY3	p.Ala454Thr	rs368535616	missense variant	-	NC_000014.9:g.95124212C>T	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Arg459Gly	RCV000689168	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124197T>C	ClinVar
DICER1	Q9UPY3	p.Leu460Phe	rs1555373260	missense variant	-	NC_000014.9:g.95117751C>G	-
DICER1	Q9UPY3	p.Leu460Phe	RCV000572584	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117751C>G	ClinVar
DICER1	Q9UPY3	p.Ile461Leu	RCV000574882	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117750T>A	ClinVar
DICER1	Q9UPY3	p.Ile461Leu	RCV000818349	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117750T>A	ClinVar
DICER1	Q9UPY3	p.Ile461Val	rs141163928	missense variant	-	NC_000014.9:g.95117750T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile461Leu	rs141163928	missense variant	-	NC_000014.9:g.95117750T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile461Val	RCV000331637	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117750T>C	ClinVar
DICER1	Q9UPY3	p.Lys462Arg	RCV000574921	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117746T>C	ClinVar
DICER1	Q9UPY3	p.Lys462Arg	RCV000544563	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117746T>C	ClinVar
DICER1	Q9UPY3	p.Lys462Arg	rs1555373256	missense variant	-	NC_000014.9:g.95117746T>C	-
DICER1	Q9UPY3	p.Ala464Gly	rs761639108	missense variant	-	NC_000014.9:g.95117740G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala464Gly	RCV000563971	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117740G>C	ClinVar
DICER1	Q9UPY3	p.Ala464Gly	RCV000797427	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117740G>C	ClinVar
DICER1	Q9UPY3	p.Gln467Ter	RCV000493643	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117730_95117731del	ClinVar
DICER1	Q9UPY3	p.Asp468Gly	rs536815965	missense variant	-	NC_000014.9:g.95117728T>C	1000Genomes
DICER1	Q9UPY3	p.Glu470Ter	RCV000494242	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.del470del	RCV000494242	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Asp	RCV000559384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117721C>G	ClinVar
DICER1	Q9UPY3	p.del470del	RCV000240880	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Ter	RCV000240880	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Asp	rs774271782	missense variant	-	NC_000014.9:g.95117721C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu470Ter	rs886037671	stop gained	-	NC_000014.9:g.95117723C>A	-
DICER1	Q9UPY3	p.Ala472Thr	rs1374595292	missense variant	-	NC_000014.9:g.95117717C>T	gnomAD
DICER1	Q9UPY3	p.Tyr473Ser	RCV000654415	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117713T>G	ClinVar
DICER1	Q9UPY3	p.Tyr473Ter	RCV000543044	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117715del	ClinVar
DICER1	Q9UPY3	p.Tyr473Ser	rs1314692347	missense variant	-	NC_000014.9:g.95117713T>G	gnomAD
DICER1	Q9UPY3	p.Tyr473Cys	rs1314692347	missense variant	-	NC_000014.9:g.95117713T>C	gnomAD
DICER1	Q9UPY3	p.Ile474Val	RCV000470835	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117711T>C	ClinVar
DICER1	Q9UPY3	p.Ile474Met	rs768640312	missense variant	-	NC_000014.9:g.95117709G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile474Val	rs1060503581	missense variant	-	NC_000014.9:g.95117711T>C	-
DICER1	Q9UPY3	p.Ser475Cys	RCV000573989	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117708T>A	ClinVar
DICER1	Q9UPY3	p.Ser475Cys	RCV000472646	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117708T>A	ClinVar
DICER1	Q9UPY3	p.Ser475Cys	rs1060503594	missense variant	-	NC_000014.9:g.95117708T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn477Ser	RCV000564585	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117701T>C	ClinVar
DICER1	Q9UPY3	p.Asn477Ser	RCV000475639	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117701T>C	ClinVar
DICER1	Q9UPY3	p.Asn477Ser	rs1060503630	missense variant	-	NC_000014.9:g.95117701T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile479Val	rs1293949005	missense variant	-	NC_000014.9:g.95117696T>C	TOPMed
DICER1	Q9UPY3	p.Gly481Val	rs1307281391	missense variant	-	NC_000014.9:g.95117689C>A	TOPMed
DICER1	Q9UPY3	p.His482Arg	RCV000654452	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117686T>C	ClinVar
DICER1	Q9UPY3	p.His482Arg	rs749240414	missense variant	-	NC_000014.9:g.95117686T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly485Arg	RCV000556393	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117678C>T	ClinVar
DICER1	Q9UPY3	p.Gly485Arg	rs762155753	missense variant	-	NC_000014.9:g.95117678C>T	gnomAD
DICER1	Q9UPY3	p.Asn487Tyr	RCV000476049	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117672T>A	ClinVar
DICER1	Q9UPY3	p.Asn487Tyr	rs1060503590	missense variant	-	NC_000014.9:g.95117672T>A	-
DICER1	Q9UPY3	p.Gln488Ter	RCV000493763	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117669dup	ClinVar
DICER1	Q9UPY3	p.Gln488His	rs770934736	missense variant	-	NC_000014.9:g.95117667C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro489Leu	RCV000472468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117665G>A	ClinVar
DICER1	Q9UPY3	p.Pro489Leu	rs200866760	missense variant	-	NC_000014.9:g.95117665G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Cys	RCV000570166	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117663G>A	ClinVar
DICER1	Q9UPY3	p.Arg490Ser	RCV000472281	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>T	ClinVar
DICER1	Q9UPY3	p.Arg490His	RCV000534895	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117662C>T	ClinVar
DICER1	Q9UPY3	p.Arg490Cys	rs777894117	missense variant	-	NC_000014.9:g.95117663G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Ser	rs777894117	missense variant	-	NC_000014.9:g.95117663G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490His	rs1006363970	missense variant	-	NC_000014.9:g.95117662C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Leu	rs1006363970	missense variant	-	NC_000014.9:g.95117662C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Cys	RCV000227215	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>A	ClinVar
DICER1	Q9UPY3	p.Lys492Arg	RCV000654469	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117656T>C	ClinVar
DICER1	Q9UPY3	p.Lys492Arg	rs758829946	missense variant	-	NC_000014.9:g.95117656T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln493Glu	rs1184987398	missense variant	-	NC_000014.9:g.95117654G>C	TOPMed
DICER1	Q9UPY3	p.Met494Ile	RCV000803105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117649C>T	ClinVar
DICER1	Q9UPY3	p.Met494Ile	RCV000572347	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117649C>T	ClinVar
DICER1	Q9UPY3	p.Met494Val	rs878855243	missense variant	-	NC_000014.9:g.95117651T>C	-
DICER1	Q9UPY3	p.Met494Val	RCV000231243	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117651T>C	ClinVar
DICER1	Q9UPY3	p.Met494Ile	rs1224788557	missense variant	-	NC_000014.9:g.95117649C>T	gnomAD
DICER1	Q9UPY3	p.Met494Thr	rs1269571329	missense variant	-	NC_000014.9:g.95117650A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met494Thr	RCV000549790	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117650A>G	ClinVar
DICER1	Q9UPY3	p.Ala496Thr	rs779431881	missense variant	-	NC_000014.9:g.95117645C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg499Gly	rs1205403584	missense variant	-	NC_000014.9:g.95117636T>C	gnomAD
DICER1	Q9UPY3	p.Lys500Ter	RCV000211121	nonsense	Pineoblastoma	NC_000014.9:g.95117633T>A	ClinVar
DICER1	Q9UPY3	p.Lys500Ter	rs875989782	stop gained	-	NC_000014.9:g.95117633T>A	-
DICER1	Q9UPY3	p.Glu503Ter	RCV000493893	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	RCV000004726	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	RCV000240918	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Gln	RCV000654409	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>G	ClinVar
DICER1	Q9UPY3	p.Val504Ile	rs748384175	missense variant	-	NC_000014.9:g.95116695C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg509Ter	RCV000851442	nonsense	-	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	RCV000240959	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	RCV000494034	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	rs886037672	stop gained	-	NC_000014.9:g.95116680G>A	-
DICER1	Q9UPY3	p.Glu512Gly	RCV000540230	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116670T>C	ClinVar
DICER1	Q9UPY3	p.Glu512Gly	rs1555372903	missense variant	-	NC_000014.9:g.95116670T>C	-
DICER1	Q9UPY3	p.Glu512Asp	rs1375042165	missense variant	-	NC_000014.9:g.95116669C>G	gnomAD
DICER1	Q9UPY3	p.Asn514Ser	rs750188806	missense variant	-	NC_000014.9:g.95116664T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala518Gly	RCV000696372	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116652G>C	ClinVar
DICER1	Q9UPY3	p.Thr519Ala	RCV000695734	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116650T>C	ClinVar
DICER1	Q9UPY3	p.Ile521Val	rs966168689	missense variant	-	NC_000014.9:g.95116644T>C	TOPMed
DICER1	Q9UPY3	p.Val522Ala	rs1178338521	missense variant	-	NC_000014.9:g.95116640A>G	gnomAD
DICER1	Q9UPY3	p.Val526Ile	RCV000470173	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116629C>T	ClinVar
DICER1	Q9UPY3	p.Val526Ile	rs1060503660	missense variant	-	NC_000014.9:g.95116629C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	RCV000232020	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116622A>G	ClinVar
DICER1	Q9UPY3	p.Ile528Leu	rs755649018	missense variant	-	NC_000014.9:g.95116623T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Val	rs755649018	missense variant	-	NC_000014.9:g.95116623T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	rs143099538	missense variant	-	NC_000014.9:g.95116622A>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	RCV000575192	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116622A>G	ClinVar
DICER1	Q9UPY3	p.Lys530Arg	RCV000706694	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116616T>C	ClinVar
DICER1	Q9UPY3	p.Arg536Cys	RCV000573426	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116599G>A	ClinVar
DICER1	Q9UPY3	p.Arg536Cys	rs1007754435	missense variant	-	NC_000014.9:g.95116599G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu542Gly	rs761391603	missense variant	-	NC_000014.9:g.95116580T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu542Gly	RCV000550573	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116580T>C	ClinVar
DICER1	Q9UPY3	p.Glu542Gly	RCV000570700	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116580T>C	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000004729	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000851443	nonsense	-	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000240896	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Gln	RCV000528971	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116574C>T	ClinVar
DICER1	Q9UPY3	p.Arg544Gln	rs143533680	missense variant	-	NC_000014.9:g.95116574C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg544Ter	rs137852979	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95116575G>A	-
DICER1	Q9UPY3	p.Ser545Phe	rs1344891057	missense variant	-	NC_000014.9:g.95116571G>A	gnomAD
DICER1	Q9UPY3	p.Gln548Leu	rs1261880466	missense variant	-	NC_000014.9:g.95116562T>A	gnomAD
DICER1	Q9UPY3	p.Gly551Ter	RCV000240932	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
DICER1	Q9UPY3	p.del551del	RCV000240932	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
DICER1	Q9UPY3	p.Gly551Ter	rs886037673	stop gained	-	NC_000014.9:g.95116554C>A	-
DICER1	Q9UPY3	p.Arg554Gly	rs148532788	missense variant	-	NC_000014.9:g.95116545T>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala555Val	RCV000697921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116541G>A	ClinVar
DICER1	Q9UPY3	p.Ile557Val	rs139198222	missense variant	-	NC_000014.9:g.95116536T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile561Thr	RCV000553612	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116523A>G	ClinVar
DICER1	Q9UPY3	p.Ile561Val	RCV000233675	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116524T>C	ClinVar
DICER1	Q9UPY3	p.Ile561Thr	rs1383145692	missense variant	-	NC_000014.9:g.95116523A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile561Val	rs147493562	missense variant	-	NC_000014.9:g.95116524T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met562Ter	RCV000240961	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
DICER1	Q9UPY3	p.del562del	RCV000240961	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
DICER1	Q9UPY3	p.Ala564Val	RCV000456479	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>A	ClinVar
DICER1	Q9UPY3	p.Ala564Gly	RCV000654417	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>C	ClinVar
DICER1	Q9UPY3	p.Ala564Val	RCV000571889	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116514G>A	ClinVar
DICER1	Q9UPY3	p.Ala564Thr	rs773357230	missense variant	-	NC_000014.9:g.95116515C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala564Val	rs201298288	missense variant	-	NC_000014.9:g.95116514G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala564Gly	rs201298288	missense variant	-	NC_000014.9:g.95116514G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp565Ter	RCV000542373	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116511del	ClinVar
DICER1	Q9UPY3	p.Asp565Val	rs1342138544	missense variant	-	NC_000014.9:g.95116511T>A	TOPMed
DICER1	Q9UPY3	p.Thr566Ter	RCV000240898	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
DICER1	Q9UPY3	p.del566del	RCV000240898	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
DICER1	Q9UPY3	p.Asp567Glu	rs1229773803	missense variant	-	NC_000014.9:g.95116504G>C	TOPMed
DICER1	Q9UPY3	p.Lys568Arg	RCV000705667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116502T>C	ClinVar
DICER1	Q9UPY3	p.Ile569Ter	RCV000459141	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499_95116503del	ClinVar
DICER1	Q9UPY3	p.Ile569Met	RCV000460011	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116498T>C	ClinVar
DICER1	Q9UPY3	p.Ile569Thr	RCV000654465	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499A>G	ClinVar
DICER1	Q9UPY3	p.Ile569Met	rs774765473	missense variant	-	NC_000014.9:g.95116498T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile569Thr	rs1555372847	missense variant	-	NC_000014.9:g.95116499A>G	-
DICER1	Q9UPY3	p.del572del	RCV000240934	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
DICER1	Q9UPY3	p.Phe572Ter	RCV000240934	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
DICER1	Q9UPY3	p.Asp575Glu	RCV000465908	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116480G>T	ClinVar
DICER1	Q9UPY3	p.Asp575Glu	rs1060503652	missense variant	-	NC_000014.9:g.95116480G>T	-
DICER1	Q9UPY3	p.Leu576Phe	rs1310449725	missense variant	-	NC_000014.9:g.95116479G>A	TOPMed
DICER1	Q9UPY3	p.Thr578Ser	RCV000564125	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116472G>C	ClinVar
DICER1	Q9UPY3	p.Thr578Ter	RCV000561602	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116480del	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	RCV000459495	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116472G>C	ClinVar
DICER1	Q9UPY3	p.Thr578Ter	RCV000493051	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116476dup	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	rs1060503586	missense variant	-	NC_000014.9:g.95116472G>C	TOPMed
DICER1	Q9UPY3	p.Tyr579Cys	RCV000530577	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116469T>C	ClinVar
DICER1	Q9UPY3	p.Tyr579Cys	rs769034924	missense variant	-	NC_000014.9:g.95116469T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys580Glu	RCV000654390	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116467T>C	ClinVar
DICER1	Q9UPY3	p.Lys580Glu	rs1555372824	missense variant	-	NC_000014.9:g.95116467T>C	-
DICER1	Q9UPY3	p.Ala581Gly	RCV000545455	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116463G>C	ClinVar
DICER1	Q9UPY3	p.Ala581Gly	rs1555372822	missense variant	-	NC_000014.9:g.95116463G>C	-
DICER1	Q9UPY3	p.Ile582Thr	RCV000240873	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116460A>G	ClinVar
DICER1	Q9UPY3	p.Ile582Thr	rs749686370	missense variant	-	NC_000014.9:g.95116460A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu583Ter	RCV000464540	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116458del	ClinVar
DICER1	Q9UPY3	p.Glu583Ter	RCV000493199	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116454_95116458del	ClinVar
DICER1	Q9UPY3	p.Ile585Val	rs1159702656	missense variant	-	NC_000014.9:g.95115821T>C	TOPMed
DICER1	Q9UPY3	p.Asn588Thr	rs1251715969	missense variant	-	NC_000014.9:g.95115811T>G	gnomAD
DICER1	Q9UPY3	p.Asn588Lys	rs1555372652	missense variant	-	NC_000014.9:g.95115810G>T	-
DICER1	Q9UPY3	p.Asn588Lys	RCV000543973	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115810G>T	ClinVar
DICER1	Q9UPY3	p.Lys589Ter	RCV000466596	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115807del	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	RCV000575465	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115805C>A	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	rs1555372646	missense variant	-	NC_000014.9:g.95115805C>A	-
DICER1	Q9UPY3	p.Cys590Phe	RCV000691080	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115805C>A	ClinVar
DICER1	Q9UPY3	p.Ser591Phe	RCV000558799	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115802G>A	ClinVar
DICER1	Q9UPY3	p.Ser591Phe	rs1555372631	missense variant	-	NC_000014.9:g.95115802G>A	-
DICER1	Q9UPY3	p.Ser591Ala	rs1406205603	missense variant	-	NC_000014.9:g.95115803A>C	TOPMed
DICER1	Q9UPY3	p.Lys592Gln	rs757920193	missense variant	-	NC_000014.9:g.95115800T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser593Leu	rs752424727	missense variant	-	NC_000014.9:g.95115796G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp595Gly	RCV000470722	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115790T>C	ClinVar
DICER1	Q9UPY3	p.Asp595Gly	rs1060503611	missense variant	-	NC_000014.9:g.95115790T>C	gnomAD
DICER1	Q9UPY3	p.Thr596Asn	RCV000573803	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787G>T	ClinVar
DICER1	Q9UPY3	p.Thr596Asn	RCV000226251	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787G>T	ClinVar
DICER1	Q9UPY3	p.Thr596Ile	rs754852266	missense variant	-	NC_000014.9:g.95115787G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr596Ter	RCV000494138	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.del596del	RCV000494138	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.Thr596Ter	RCV000240926	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.del596del	RCV000240926	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.Thr596Asn	rs754852266	missense variant	-	NC_000014.9:g.95115787G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly597Ser	RCV000654411	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115785C>T	ClinVar
DICER1	Q9UPY3	p.Gly597Ser	rs1277436466	missense variant	-	NC_000014.9:g.95115785C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu598Lys	rs753796042	missense variant	-	NC_000014.9:g.95115782C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr599Ala	RCV000654372	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115779T>C	ClinVar
DICER1	Q9UPY3	p.Thr599Ala	rs766492523	missense variant	-	NC_000014.9:g.95115779T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile601Val	RCV000704838	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115773T>C	ClinVar
DICER1	Q9UPY3	p.Ile601Val	rs564224919	missense variant	-	NC_000014.9:g.95115773T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile601Thr	RCV000654420	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115772A>G	ClinVar
DICER1	Q9UPY3	p.Ile601Thr	rs760966585	missense variant	-	NC_000014.9:g.95115772A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro603Thr	RCV000474757	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115767G>T	ClinVar
DICER1	Q9UPY3	p.Pro603Thr	rs1060503614	missense variant	-	NC_000014.9:g.95115767G>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val604Ile	rs960381662	missense variant	-	NC_000014.9:g.95115764C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met605Val	RCV000569184	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115761T>C	ClinVar
DICER1	Q9UPY3	p.Met605Thr	rs1249693564	missense variant	-	NC_000014.9:g.95115760A>G	TOPMed
DICER1	Q9UPY3	p.Met605Val	rs759958601	missense variant	-	NC_000014.9:g.95115761T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met605Thr	RCV000654422	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115760A>G	ClinVar
DICER1	Q9UPY3	p.Asp606Gly	rs545651708	missense variant	-	NC_000014.9:g.95115757T>C	1000Genomes
DICER1	Q9UPY3	p.Asp608Gly	RCV000548401	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>C	ClinVar
DICER1	Q9UPY3	p.Asp608Gly	rs1270338113	missense variant	-	NC_000014.9:g.95115751T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp608Val	RCV000698469	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>A	ClinVar
DICER1	Q9UPY3	p.Asp609Tyr	RCV000231934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115749C>A	ClinVar
DICER1	Q9UPY3	p.Asp609Tyr	rs114947750	missense variant	-	NC_000014.9:g.95115749C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.del610del	RCV000240861	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Ter	RCV000240861	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Ile	RCV000654396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>T	ClinVar
DICER1	Q9UPY3	p.Val610Leu	RCV000536557	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>G	ClinVar
DICER1	Q9UPY3	p.Val610Ter	RCV000493528	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.del610del	RCV000493528	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Ile	rs1336108562	missense variant	-	NC_000014.9:g.95115746C>T	gnomAD
DICER1	Q9UPY3	p.Val610Leu	rs1336108562	missense variant	-	NC_000014.9:g.95115746C>G	gnomAD
DICER1	Q9UPY3	p.Pro613Ser	RCV000456159	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115737G>A	ClinVar
DICER1	Q9UPY3	p.Pro613Ser	rs201553563	missense variant	-	NC_000014.9:g.95115737G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr614Ter	RCV000493225	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115735del	ClinVar
DICER1	Q9UPY3	p.Val615Leu	rs1315795741	missense variant	-	NC_000014.9:g.95115731C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val615Met	rs1315795741	missense variant	-	NC_000014.9:g.95115731C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu616Trp	rs771634025	missense variant	-	NC_000014.9:g.95115727A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro618Arg	rs1555372566	missense variant	-	NC_000014.9:g.95115721G>C	-
DICER1	Q9UPY3	p.Pro618Arg	RCV000654442	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115721G>C	ClinVar
DICER1	Q9UPY3	p.Asp619Gly	rs1426451842	missense variant	-	NC_000014.9:g.95115718T>C	TOPMed
DICER1	Q9UPY3	p.Gly621Ala	rs1369399401	missense variant	-	NC_000014.9:g.95115712C>G	TOPMed
DICER1	Q9UPY3	p.Gly621Asp	RCV000703553	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115712C>T	ClinVar
DICER1	Q9UPY3	p.Gly622Ser	rs1555372556	missense variant	-	NC_000014.9:g.95115710C>T	-
DICER1	Q9UPY3	p.Gly622Ser	RCV000654431	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115710C>T	ClinVar
DICER1	Q9UPY3	p.Pro623Ser	RCV000539624	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115707G>A	ClinVar
DICER1	Q9UPY3	p.Pro623Ser	rs778668024	missense variant	-	NC_000014.9:g.95115707G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg624Ter	RCV000493744	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Ter	RCV000851400	nonsense	-	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Ter	RCV000240902	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Gln	rs753746305	missense variant	-	NC_000014.9:g.95115703C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg624Gly	rs754818927	missense variant	-	NC_000014.9:g.95115704G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg624Ter	rs754818927	stop gained	-	NC_000014.9:g.95115704G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr626Lys	RCV000554505	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115697G>T	ClinVar
DICER1	Q9UPY3	p.Thr626Lys	rs375579739	missense variant	-	NC_000014.9:g.95115697G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile627Ter	RCV000240940	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.del627del	RCV000240940	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Ter	RCV000494355	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.del627del	RCV000494355	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Ter	RCV000482671	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.del627del	RCV000482671	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Val	rs1312425649	missense variant	-	NC_000014.9:g.95115695T>C	TOPMed
DICER1	Q9UPY3	p.Asn628Ser	RCV000569558	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115691T>C	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	RCV000458073	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115691T>C	ClinVar
DICER1	Q9UPY3	p.Asn628Thr	RCV000761009	missense variant	Diffuse astrocytoma	NC_000014.9:g.95115691T>G	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	rs756051157	missense variant	-	NC_000014.9:g.95115691T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr629Met	RCV000528058	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115688G>A	ClinVar
DICER1	Q9UPY3	p.Thr629Met	RCV000565943	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115688G>A	ClinVar
DICER1	Q9UPY3	p.Thr629Ala	rs1177614630	missense variant	-	NC_000014.9:g.95115689T>C	gnomAD
DICER1	Q9UPY3	p.Thr629Met	rs750410087	missense variant	-	NC_000014.9:g.95115688G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Val	rs878855245	missense variant	-	NC_000014.9:g.95115683T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Val	RCV000229468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115683T>C	ClinVar
DICER1	Q9UPY3	p.Ile631Phe	rs878855245	missense variant	-	NC_000014.9:g.95115683T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Leu	rs878855245	missense variant	-	NC_000014.9:g.95115683T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.His633Leu	rs763129150	missense variant	-	NC_000014.9:g.95115676T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile634Val	rs752853448	missense variant	-	NC_000014.9:g.95115674T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn635Ser	RCV000654414	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115670T>C	ClinVar
DICER1	Q9UPY3	p.Asn635Ser	RCV000575691	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115670T>C	ClinVar
DICER1	Q9UPY3	p.Asn635Ser	rs765551529	missense variant	-	NC_000014.9:g.95115670T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr637Ter	RCV000240903	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113222dup	ClinVar
DICER1	Q9UPY3	p.Tyr637Ter	rs886037682	stop gained	-	NC_000014.9:g.95113222dup	-
DICER1	Q9UPY3	p.Arg640Gly	RCV000654375	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113214T>C	ClinVar
DICER1	Q9UPY3	p.Arg640Gly	rs1555372107	missense variant	-	NC_000014.9:g.95113214T>C	-
DICER1	Q9UPY3	p.Pro642Thr	rs1235554768	missense variant	-	NC_000014.9:g.95113208G>T	gnomAD
DICER1	Q9UPY3	p.Pro645Leu	rs781253567	missense variant	-	NC_000014.9:g.95113198G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro645Leu	RCV000463332	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113198G>A	ClinVar
DICER1	Q9UPY3	p.Thr647Asn	rs1238144220	missense variant	-	NC_000014.9:g.95113192G>T	gnomAD
DICER1	Q9UPY3	p.Leu649Arg	rs752761725	missense variant	-	NC_000014.9:g.95113186A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro651Ser	rs1315942457	missense variant	-	NC_000014.9:g.95113181G>A	gnomAD
DICER1	Q9UPY3	p.Pro651Ala	rs1315942457	missense variant	-	NC_000014.9:g.95113181G>C	gnomAD
DICER1	Q9UPY3	p.Lys652Thr	RCV000546568	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113177T>G	ClinVar
DICER1	Q9UPY3	p.Lys652Thr	rs755150419	missense variant	-	NC_000014.9:g.95113177T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys652Gln	rs1339343858	missense variant	-	NC_000014.9:g.95113178T>G	TOPMed
DICER1	Q9UPY3	p.Lys652Ile	rs755150419	missense variant	-	NC_000014.9:g.95113177T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Cys653Phe	rs1022513649	missense variant	-	NC_000014.9:g.95113174C>A	TOPMed
DICER1	Q9UPY3	p.Arg654Gly	RCV000552179	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113172T>C	ClinVar
DICER1	Q9UPY3	p.Arg654Gly	rs1555372083	missense variant	-	NC_000014.9:g.95113172T>C	-
DICER1	Q9UPY3	p.Arg656Ter	RCV000494166	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Gln	RCV000532187	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113165C>T	ClinVar
DICER1	Q9UPY3	p.Arg656Ter	RCV000240942	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Gln	rs766707302	missense variant	-	NC_000014.9:g.95113165C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg656Gly	rs754081635	missense variant	-	NC_000014.9:g.95113166G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg656Ter	RCV000851447	nonsense	-	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Ter	rs754081635	stop gained	-	NC_000014.9:g.95113166G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro659Ser	rs1347537043	missense variant	-	NC_000014.9:g.95113157G>A	gnomAD
DICER1	Q9UPY3	p.Pro659Ser	RCV000566256	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113157G>A	ClinVar
DICER1	Q9UPY3	p.Asp660Asn	rs773588526	missense variant	-	NC_000014.9:g.95113154C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp660His	rs773588526	missense variant	-	NC_000014.9:g.95113154C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp660Gly	RCV000573224	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113153T>C	ClinVar
DICER1	Q9UPY3	p.Asp660Gly	RCV000654451	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113153T>C	ClinVar
DICER1	Q9UPY3	p.Asp660Gly	rs151272381	missense variant	-	NC_000014.9:g.95113153T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr662Ala	rs1163780413	missense variant	-	NC_000014.9:g.95113148T>C	gnomAD
DICER1	Q9UPY3	p.Tyr664Cys	RCV000654426	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113141T>C	ClinVar
DICER1	Q9UPY3	p.Tyr664Cys	rs1555372066	missense variant	-	NC_000014.9:g.95113141T>C	-
DICER1	Q9UPY3	p.Tyr668Asp	RCV000546133	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113130A>C	ClinVar
DICER1	Q9UPY3	p.Tyr668Asp	rs1555372059	missense variant	-	NC_000014.9:g.95113130A>C	-
DICER1	Q9UPY3	p.Ile671Val	RCV000459832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113121T>C	ClinVar
DICER1	Q9UPY3	p.Ile671Val	RCV000565131	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113121T>C	ClinVar
DICER1	Q9UPY3	p.Ile671Val	rs768315203	missense variant	-	NC_000014.9:g.95113121T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn672Lys	rs748905178	missense variant	-	NC_000014.9:g.95113116G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro674Arg	rs775336086	missense variant	-	NC_000014.9:g.95113111G>C	ExAC
DICER1	Q9UPY3	p.Leu675Val	RCV000697938	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113109G>C	ClinVar
DICER1	Q9UPY3	p.Leu675Val	rs1201056619	missense variant	-	NC_000014.9:g.95113109G>C	TOPMed
DICER1	Q9UPY3	p.Arg676Ter	RCV000494079	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	RCV000226155	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Pro	RCV000562090	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113105C>G	ClinVar
DICER1	Q9UPY3	p.Arg676Pro	RCV000560799	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113105C>G	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	RCV000851448	nonsense	-	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	rs878855246	stop gained	-	NC_000014.9:g.95113106G>A	-
DICER1	Q9UPY3	p.Arg676Pro	rs892971080	missense variant	-	NC_000014.9:g.95113105C>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg676Gln	rs892971080	missense variant	-	NC_000014.9:g.95113105C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala677Thr	rs1555372041	missense variant	-	NC_000014.9:g.95113103C>T	-
DICER1	Q9UPY3	p.Ala677Thr	RCV000654364	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113103C>T	ClinVar
DICER1	Q9UPY3	p.Ser678Phe	RCV000230060	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113099G>A	ClinVar
DICER1	Q9UPY3	p.Ser678Ala	rs377269341	missense variant	-	NC_000014.9:g.95113100A>C	ESP
DICER1	Q9UPY3	p.Ser678Phe	RCV000573377	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113099G>A	ClinVar
DICER1	Q9UPY3	p.Ser678Ala	RCV000460461	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113100A>C	ClinVar
DICER1	Q9UPY3	p.Ser678Phe	rs544623004	missense variant	-	NC_000014.9:g.95113099G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile679Val	rs1224940599	missense variant	-	NC_000014.9:g.95113097T>C	gnomAD
DICER1	Q9UPY3	p.Val680Ile	RCV000476569	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113094C>T	ClinVar
DICER1	Q9UPY3	p.Val680Ile	RCV000571758	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113094C>T	ClinVar
DICER1	Q9UPY3	p.Val680Ile	rs201883449	missense variant	-	NC_000014.9:g.95113094C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro682Gln	RCV000654376	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112243G>T	ClinVar
DICER1	Q9UPY3	p.Pro682Gln	rs752621393	missense variant	-	NC_000014.9:g.95112243G>T	-
DICER1	Q9UPY3	p.Pro683Arg	RCV000549330	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112240G>C	ClinVar
DICER1	Q9UPY3	p.Pro683Arg	rs373914672	missense variant	-	NC_000014.9:g.95112240G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Leu	rs142300389	missense variant	-	NC_000014.9:g.95112238T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Thr	rs1319798252	missense variant	-	NC_000014.9:g.95112237A>G	gnomAD
DICER1	Q9UPY3	p.Met684Val	rs142300389	missense variant	-	NC_000014.9:g.95112238T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Thr	RCV000567909	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112237A>G	ClinVar
DICER1	Q9UPY3	p.Ser685Cys	rs1003714112	missense variant	-	NC_000014.9:g.95112235T>A	TOPMed
DICER1	Q9UPY3	p.Cys686Tyr	rs769510378	missense variant	-	NC_000014.9:g.95112231C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg688Ter	RCV000240958	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Ter	RCV000493794	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	RCV000467565	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112225C>T	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	RCV000567747	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112225C>T	ClinVar
DICER1	Q9UPY3	p.Arg688Ter	RCV000384144	nonsense	-	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Ter	rs886037684	stop gained	-	NC_000014.9:g.95112226G>A	gnomAD
DICER1	Q9UPY3	p.Arg688Leu	rs542398644	missense variant	-	NC_000014.9:g.95112225C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg688Gln	rs542398644	missense variant	-	NC_000014.9:g.95112225C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu691Gln	rs1158581801	missense variant	-	NC_000014.9:g.95112217C>G	gnomAD
DICER1	Q9UPY3	p.Arg692Lys	RCV000567897	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112213C>T	ClinVar
DICER1	Q9UPY3	p.Arg692Lys	RCV000685928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112213C>T	ClinVar
DICER1	Q9UPY3	p.Arg692Lys	rs1555371838	missense variant	-	NC_000014.9:g.95112213C>T	-
DICER1	Q9UPY3	p.Val694Ile	rs770652592	missense variant	-	NC_000014.9:g.95112208C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile697Met	rs746941761	missense variant	-	NC_000014.9:g.95112197A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys699Gly	rs1168346305	missense variant	-	NC_000014.9:g.95112193A>C	gnomAD
DICER1	Q9UPY3	p.Glu700Gly	RCV000526994	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112189T>C	ClinVar
DICER1	Q9UPY3	p.Glu700Gly	rs376691754	missense variant	-	NC_000014.9:g.95112189T>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu702Val	rs1555371818	missense variant	-	NC_000014.9:g.95112184G>C	-
DICER1	Q9UPY3	p.Leu702Val	RCV000537187	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112184G>C	ClinVar
DICER1	Q9UPY3	p.Lys704Arg	RCV000692763	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112177T>C	ClinVar
DICER1	Q9UPY3	p.Lys704Arg	rs749428279	missense variant	-	NC_000014.9:g.95112177T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys704Arg	RCV000575302	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112177T>C	ClinVar
DICER1	Q9UPY3	p.Ile705Val	rs752868874	missense variant	-	NC_000014.9:g.95112175T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu707Lys	RCV000792504	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111454C>T	ClinVar
DICER1	Q9UPY3	p.Glu707Lys	rs1555371642	missense variant	-	NC_000014.9:g.95111454C>T	-
DICER1	Q9UPY3	p.Glu707Lys	RCV000562699	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111454C>T	ClinVar
DICER1	Q9UPY3	p.Pro714Thr	rs911090648	missense variant	-	NC_000014.9:g.95111433G>T	TOPMed
DICER1	Q9UPY3	p.Val715Phe	rs1254898247	missense variant	-	NC_000014.9:g.95111430C>A	gnomAD
DICER1	Q9UPY3	p.Glu718Asp	RCV000570251	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111419C>G	ClinVar
DICER1	Q9UPY3	p.Glu718Asp	RCV000540972	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111419C>G	ClinVar
DICER1	Q9UPY3	p.Glu718Asp	rs1555371628	missense variant	-	NC_000014.9:g.95111419C>G	-
DICER1	Q9UPY3	p.Thr719Ter	RCV000493808	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111415_95111416del	ClinVar
DICER1	Q9UPY3	p.Thr719Ter	RCV000240883	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111415_95111416del	ClinVar
DICER1	Q9UPY3	p.Thr719Ser	rs1342513692	missense variant	-	NC_000014.9:g.95111417G>C	gnomAD
DICER1	Q9UPY3	p.Asp727Gly	rs997546722	missense variant	-	NC_000014.9:g.95111393T>C	-
DICER1	Q9UPY3	p.Leu728Phe	rs1376232943	missense variant	-	NC_000014.9:g.95111389C>G	TOPMed
DICER1	Q9UPY3	p.His729Arg	RCV000468577	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111387T>C	ClinVar
DICER1	Q9UPY3	p.His729Arg	rs748084431	missense variant	-	NC_000014.9:g.95111387T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp730PheAlaTer	RCV000494351	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111386_95111392dup	ClinVar
DICER1	Q9UPY3	p.Asp730Gly	rs780069801	missense variant	-	NC_000014.9:g.95111384T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu731Lys	RCV000460175	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111382C>T	ClinVar
DICER1	Q9UPY3	p.Glu732Gly	rs1555371605	missense variant	-	NC_000014.9:g.95111378T>C	-
DICER1	Q9UPY3	p.Glu732Gly	RCV000654457	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111378T>C	ClinVar
DICER1	Q9UPY3	p.Thr734Ser	RCV000467449	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111372G>C	ClinVar
DICER1	Q9UPY3	p.Thr734Ter	RCV000555693	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111374_95111375CT[3]	ClinVar
DICER1	Q9UPY3	p.Thr734Ser	rs781312991	missense variant	-	NC_000014.9:g.95111372G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser735Gly	rs1039684913	missense variant	-	NC_000014.9:g.95111370T>C	-
DICER1	Q9UPY3	p.Pro737Ala	rs778284198	missense variant	-	NC_000014.9:g.95111364G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro737Ser	rs778284198	missense variant	-	NC_000014.9:g.95111364G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr743Met	RCV000471984	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111345G>A	ClinVar
DICER1	Q9UPY3	p.Thr743Met	rs758932000	missense variant	-	NC_000014.9:g.95111345G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg745Ter	RCV000459736	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111340G>A	ClinVar
DICER1	Q9UPY3	p.Arg745Ter	rs1060503584	stop gained	-	NC_000014.9:g.95111340G>A	-
DICER1	Q9UPY3	p.Arg746Gly	RCV000240921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111337T>C	ClinVar
DICER1	Q9UPY3	p.Arg746Gly	rs886037686	missense variant	-	NC_000014.9:g.95111337T>C	-
DICER1	Q9UPY3	p.Cys748Ter	RCV000240962	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000240899	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330insTAGT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000494492	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	rs886037687	stop gained	-	NC_000014.9:g.95111329_95111330delinsTT	-
DICER1	Q9UPY3	p.Cys748TerLeuUnk	rs886037688	stop gained	-	NC_000014.9:g.95111329_95111330insTAGT	-
DICER1	Q9UPY3	p.Tyr749Ter	RCV000480985	nonsense	-	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	RCV000493504	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	RCV000240935	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Phe	RCV000556009	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111327T>A	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	rs886037689	stop gained	-	NC_000014.9:g.95111326G>T	-
DICER1	Q9UPY3	p.Tyr749Phe	rs1309961626	missense variant	-	NC_000014.9:g.95111327T>A	TOPMed
DICER1	Q9UPY3	p.Pro750Arg	RCV000226942	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111324G>C	ClinVar
DICER1	Q9UPY3	p.Pro750Ter	RCV000541292	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326_95111329dup	ClinVar
DICER1	Q9UPY3	p.Pro750Arg	rs878855249	missense variant	-	NC_000014.9:g.95111324G>C	-
DICER1	Q9UPY3	p.Glu755Lys	RCV000561928	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108497C>T	ClinVar
DICER1	Q9UPY3	p.Glu755Lys	rs1555370957	missense variant	-	NC_000014.9:g.95108497C>T	-
DICER1	Q9UPY3	p.Leu757Val	RCV000654402	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108491A>C	ClinVar
DICER1	Q9UPY3	p.Leu757Val	rs1555370956	missense variant	-	NC_000014.9:g.95108491A>C	-
DICER1	Q9UPY3	p.Asp759Val	rs1288856698	missense variant	-	NC_000014.9:g.95108484T>A	TOPMed
DICER1	Q9UPY3	p.Ser760Asn	RCV000471625	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108481C>T	ClinVar
DICER1	Q9UPY3	p.Ser760Arg	rs761639070	missense variant	-	NC_000014.9:g.95108482T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser760Asn	rs1060503621	missense variant	-	NC_000014.9:g.95108481C>T	-
DICER1	Q9UPY3	p.Arg763Thr	RCV000544525	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108472C>G	ClinVar
DICER1	Q9UPY3	p.Arg763Thr	rs774344152	missense variant	-	NC_000014.9:g.95108472C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln766Arg	rs940468676	missense variant	-	NC_000014.9:g.95108463T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro767Ser	rs1283309784	missense variant	-	NC_000014.9:g.95108461G>A	TOPMed
DICER1	Q9UPY3	p.Pro767His	rs764001016	missense variant	-	NC_000014.9:g.95108460G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr769Ter	rs776530416	stop gained	-	NC_000014.9:g.95108453G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Val776Gly	rs1060503618	missense variant	-	NC_000014.9:g.95108433A>C	-
DICER1	Q9UPY3	p.Val776Gly	RCV000463888	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108433A>C	ClinVar
DICER1	Q9UPY3	p.Thr779Ala	rs1555370931	missense variant	-	NC_000014.9:g.95108425T>C	-
DICER1	Q9UPY3	p.Thr779Ala	RCV000543737	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108425T>C	ClinVar
DICER1	Q9UPY3	p.Glu784Ter	RCV000493374	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108410C>A	ClinVar
DICER1	Q9UPY3	p.Glu784Ter	rs1131691210	stop gained	-	NC_000014.9:g.95108410C>A	-
DICER1	Q9UPY3	p.Phe787Leu	rs367950170	missense variant	-	NC_000014.9:g.95108399A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg789Lys	RCV000703508	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108394C>T	ClinVar
DICER1	Q9UPY3	p.Arg790Gln	rs762784970	missense variant	-	NC_000014.9:g.95108391C>T	-
DICER1	Q9UPY3	p.Lys791Arg	rs748518606	missense variant	-	NC_000014.9:g.95108388T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu792Ter	RCV000654467	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108388_95108391dup	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	RCV000566994	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108382T>C	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	RCV000463608	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108382T>C	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	rs527568726	missense variant	-	NC_000014.9:g.95108382T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro794Ser	RCV000462319	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108380G>A	ClinVar
DICER1	Q9UPY3	p.Pro794Ser	rs1060503620	missense variant	-	NC_000014.9:g.95108380G>A	-
DICER1	Q9UPY3	p.Asp797Gly	rs755375348	missense variant	-	NC_000014.9:g.95108370T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp797Gly	RCV000563012	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108370T>C	ClinVar
DICER1	Q9UPY3	p.Asp797Gly	RCV000546389	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108370T>C	ClinVar
DICER1	Q9UPY3	p.del798del	RCV000240963	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Thr798Ter	RCV000240963	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Thr798Ter	RCV000493145	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.del798del	RCV000493145	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Thr798Ala	rs1191387730	missense variant	-	NC_000014.9:g.95108368T>C	gnomAD
DICER1	Q9UPY3	p.Arg800Gly	RCV000564417	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108362T>C	ClinVar
DICER1	Q9UPY3	p.Arg800Ter	RCV000493596	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108361del	ClinVar
DICER1	Q9UPY3	p.Arg800Gly	rs1555370905	missense variant	-	NC_000014.9:g.95108362T>C	-
DICER1	Q9UPY3	p.Cys801Gly	RCV000463309	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108359A>C	ClinVar
DICER1	Q9UPY3	p.Cys801Gly	rs1060503599	missense variant	-	NC_000014.9:g.95108359A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr806Met	RCV000467724	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108343G>A	ClinVar
DICER1	Q9UPY3	p.Thr806Met	rs749834289	missense variant	-	NC_000014.9:g.95108343G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys808Ile	rs1232785791	missense variant	-	NC_000014.9:g.95108337T>A	gnomAD
DICER1	Q9UPY3	p.Ile810Val	RCV000566847	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108332T>C	ClinVar
DICER1	Q9UPY3	p.Ile810Val	rs1555370881	missense variant	-	NC_000014.9:g.95108332T>C	-
DICER1	Q9UPY3	p.Gln812Arg	RCV000556511	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108325T>C	ClinVar
DICER1	Q9UPY3	p.Gln812Pro	rs750049051	missense variant	-	NC_000014.9:g.95108325T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln812Arg	rs750049051	missense variant	-	NC_000014.9:g.95108325T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile813Val	rs1354652606	missense variant	-	NC_000014.9:g.95108093T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro817Ala	rs774540239	missense variant	-	NC_000014.9:g.95108081G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr819His	RCV000562879	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108075A>G	ClinVar
DICER1	Q9UPY3	p.Tyr819His	rs1238286921	missense variant	-	NC_000014.9:g.95108075A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr826Ala	rs1328529319	missense variant	-	NC_000014.9:g.95108054T>C	TOPMed
DICER1	Q9UPY3	p.Ile829Val	RCV000654368	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108045T>C	ClinVar
DICER1	Q9UPY3	p.Ile829Thr	RCV000654378	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108044A>G	ClinVar
DICER1	Q9UPY3	p.Ile829Val	rs1038939677	missense variant	-	NC_000014.9:g.95108045T>C	TOPMed
DICER1	Q9UPY3	p.Ile829Thr	rs1555370828	missense variant	-	NC_000014.9:g.95108044A>G	-
DICER1	Q9UPY3	p.Lys832Glu	RCV000765198	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
DICER1	Q9UPY3	p.Lys832Glu	RCV000465553	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
DICER1	Q9UPY3	p.Lys832Asn	RCV000340356	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95108034C>G	ClinVar
DICER1	Q9UPY3	p.Lys832Asn	rs769292296	missense variant	-	NC_000014.9:g.95108034C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys832Glu	rs1060503613	missense variant	-	NC_000014.9:g.95108036T>C	-
DICER1	Q9UPY3	p.Lys832Arg	rs780581268	missense variant	-	NC_000014.9:g.95108035T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Phe836Ter	RCV000476393	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108022_95108023del	ClinVar
DICER1	Q9UPY3	p.Phe836Val	RCV000689913	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108024A>C	ClinVar
DICER1	Q9UPY3	p.Met837Ile	rs1360646143	missense variant	-	NC_000014.9:g.95108019C>A	gnomAD
DICER1	Q9UPY3	p.Leu838Val	rs745444772	missense variant	-	NC_000014.9:g.95108018A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser839Phe	RCV000023526	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	ClinVar
DICER1	Q9UPY3	p.Ser839Phe	rs387906934	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt,dbSNP
DICER1	Q9UPY3	p.Ser839Phe	VAR_065301	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt
DICER1	Q9UPY3	p.Ser839Phe	rs387906934	missense variant	-	NC_000014.9:g.95108014G>A	-
DICER1	Q9UPY3	p.Gln841Arg	RCV000706036	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108008T>C	ClinVar
DICER1	Q9UPY3	p.Gln841Arg	rs1417502290	missense variant	-	NC_000014.9:g.95108008T>C	gnomAD
DICER1	Q9UPY3	p.Leu843Phe	RCV000561754	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108003G>A	ClinVar
DICER1	Q9UPY3	p.Leu843Phe	rs1555370815	missense variant	-	NC_000014.9:g.95108003G>A	-
DICER1	Q9UPY3	p.Leu845Val	RCV000654374	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107997A>C	ClinVar
DICER1	Q9UPY3	p.Leu845Val	rs1182299033	missense variant	-	NC_000014.9:g.95107997A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile846Val	RCV000765197	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	RCV000566427	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	RCV000560280	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	rs201212908	missense variant	-	NC_000014.9:g.95107994T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr847Ala	RCV000462537	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107991T>C	ClinVar
DICER1	Q9UPY3	p.Thr847Ala	rs1060503641	missense variant	-	NC_000014.9:g.95107991T>C	-
DICER1	Q9UPY3	p.Tyr852Cys	RCV000562908	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107975T>C	ClinVar
DICER1	Q9UPY3	p.Tyr852Cys	rs1555370802	missense variant	-	NC_000014.9:g.95107975T>C	-
DICER1	Q9UPY3	p.Ile853Val	RCV000563365	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107973T>C	ClinVar
DICER1	Q9UPY3	p.Ile853Val	rs61729795	missense variant	-	NC_000014.9:g.95107973T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe854Leu	RCV000654423	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107968G>T	ClinVar
DICER1	Q9UPY3	p.Phe854Leu	rs1555370794	missense variant	-	NC_000014.9:g.95107968G>T	-
DICER1	Q9UPY3	p.Ile857Val	rs567006441	missense variant	-	NC_000014.9:g.95107961T>C	gnomAD
DICER1	Q9UPY3	p.Ile857Thr	rs1290998883	missense variant	-	NC_000014.9:g.95107960A>G	gnomAD
DICER1	Q9UPY3	p.Arg859Gln	rs765333464	missense variant	-	NC_000014.9:g.95107954C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg859Trp	rs144649926	missense variant	-	NC_000014.9:g.95107955G>A	ESP,gnomAD
DICER1	Q9UPY3	p.Arg859Trp	RCV000231736	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107955G>A	ClinVar
DICER1	Q9UPY3	p.Thr870Ala	RCV000686840	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107922T>C	ClinVar
DICER1	Q9UPY3	p.Asp871Val	RCV000528728	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107918T>A	ClinVar
DICER1	Q9UPY3	p.Asp871Glu	rs759827733	missense variant	-	NC_000014.9:g.95107917G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp871Val	rs1555370776	missense variant	-	NC_000014.9:g.95107918T>A	-
DICER1	Q9UPY3	p.Ala872Thr	RCV000226630	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107916C>T	ClinVar
DICER1	Q9UPY3	p.Ala872Thr	rs149242330	missense variant	-	NC_000014.9:g.95107916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp873His	RCV000570993	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107913C>G	ClinVar
DICER1	Q9UPY3	p.Asp873Gly	rs1555370765	missense variant	-	NC_000014.9:g.95107912T>C	-
DICER1	Q9UPY3	p.Asp873His	rs774672421	missense variant	-	NC_000014.9:g.95107913C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp873His	RCV000477212	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107913C>G	ClinVar
DICER1	Q9UPY3	p.Asp873Gly	RCV000538878	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107912T>C	ClinVar
DICER1	Q9UPY3	p.Ala875Ser	RCV000549111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107907C>A	ClinVar
DICER1	Q9UPY3	p.Ala875Ser	rs1555370761	missense variant	-	NC_000014.9:g.95107907C>A	-
DICER1	Q9UPY3	p.Tyr876Cys	rs1165182865	missense variant	-	NC_000014.9:g.95107903T>C	gnomAD
DICER1	Q9UPY3	p.Cys877Ser	rs1411395826	missense variant	-	NC_000014.9:g.95107901A>T	gnomAD
DICER1	Q9UPY3	p.Pro880Leu	rs1456764595	missense variant	-	NC_000014.9:g.95107891G>A	TOPMed
DICER1	Q9UPY3	p.Leu881Val	rs1293281390	missense variant	-	NC_000014.9:g.95107889G>C	TOPMed
DICER1	Q9UPY3	p.Asn882Asp	RCV000693049	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107886T>C	ClinVar
DICER1	Q9UPY3	p.Val883Ile	RCV000654399	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107883C>T	ClinVar
DICER1	Q9UPY3	p.Val883Ile	rs1407338094	missense variant	-	NC_000014.9:g.95107883C>T	TOPMed
DICER1	Q9UPY3	p.Val883Ala	rs1164049706	missense variant	-	NC_000014.9:g.95107882A>G	gnomAD
DICER1	Q9UPY3	p.Ser887Phe	RCV000542681	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>A	ClinVar
DICER1	Q9UPY3	p.Ser887Pro	RCV000228429	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107753A>G	ClinVar
DICER1	Q9UPY3	p.Ser887Tyr	rs139441077	missense variant	-	NC_000014.9:g.95107752G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser887Phe	RCV000575011	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107752G>A	ClinVar
DICER1	Q9UPY3	p.Ser887Tyr	RCV000654456	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>T	ClinVar
DICER1	Q9UPY3	p.Ser887Pro	rs878855251	missense variant	-	NC_000014.9:g.95107753A>G	TOPMed
DICER1	Q9UPY3	p.Ser887Phe	rs139441077	missense variant	-	NC_000014.9:g.95107752G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp891Gly	rs1228272276	missense variant	-	NC_000014.9:g.95107740T>C	gnomAD
DICER1	Q9UPY3	p.Phe894Leu	RCV000552892	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107730A>C	ClinVar
DICER1	Q9UPY3	p.Phe894Leu	rs760009604	missense variant	-	NC_000014.9:g.95107730A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met897Val	RCV000458127	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107723T>C	ClinVar
DICER1	Q9UPY3	p.Met897Val	rs373729361	missense variant	-	NC_000014.9:g.95107723T>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ile900Leu	rs1302387713	missense variant	-	NC_000014.9:g.95107714T>G	gnomAD
DICER1	Q9UPY3	p.Ile900Thr	rs777174247	missense variant	-	NC_000014.9:g.95107713A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys902Glu	rs1402233762	missense variant	-	NC_000014.9:g.95107708T>C	gnomAD
DICER1	Q9UPY3	p.Lys902Arg	rs1377401799	missense variant	-	NC_000014.9:g.95107707T>C	gnomAD
DICER1	Q9UPY3	p.Arg906His	RCV000232332	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>T	ClinVar
DICER1	Q9UPY3	p.Arg906Leu	rs150510758	missense variant	-	NC_000014.9:g.95107695C>A	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906His	rs150510758	missense variant	-	NC_000014.9:g.95107695C>T	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906Leu	RCV000531168	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>A	ClinVar
DICER1	Q9UPY3	p.Arg906Cys	RCV000654400	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107696G>A	ClinVar
DICER1	Q9UPY3	p.Arg906Cys	rs770335698	missense variant	-	NC_000014.9:g.95107696G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Thr	RCV000574505	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000472819	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000761114	missense variant	Acute megakaryoblastic leukemia	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Arg	rs200408568	missense variant	-	NC_000014.9:g.95107692A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Thr	rs200408568	missense variant	-	NC_000014.9:g.95107692A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Val	rs1178414622	missense variant	-	NC_000014.9:g.95107693T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Leu	rs1178414622	missense variant	-	NC_000014.9:g.95107693T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile909Val	RCV000697264	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107687T>C	ClinVar
DICER1	Q9UPY3	p.Ile909Val	rs1167073557	missense variant	-	NC_000014.9:g.95107687T>C	TOPMed
DICER1	Q9UPY3	p.Ser911Asn	RCV000555481	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107680C>T	ClinVar
DICER1	Q9UPY3	p.Ser911Asn	rs771697618	missense variant	-	NC_000014.9:g.95107680C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys913Thr	RCV000472190	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107674T>G	ClinVar
DICER1	Q9UPY3	p.Lys913Arg	rs1060503649	missense variant	-	NC_000014.9:g.95107674T>C	gnomAD
DICER1	Q9UPY3	p.Lys913Thr	rs1060503649	missense variant	-	NC_000014.9:g.95107674T>G	gnomAD
DICER1	Q9UPY3	p.Tyr914Cys	RCV000699754	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107671T>C	ClinVar
DICER1	Q9UPY3	p.Thr915Ala	RCV000529269	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107669T>C	ClinVar
DICER1	Q9UPY3	p.Thr915Ala	rs1179517249	missense variant	-	NC_000014.9:g.95107669T>C	gnomAD
DICER1	Q9UPY3	p.Lys916Thr	rs747825442	missense variant	-	NC_000014.9:g.95107665T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu917Ter	RCV000494012	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.del917del	RCV000494012	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.Glu917Ter	RCV000240925	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.del917del	RCV000240925	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.Glu917Ter	rs886037692	stop gained	-	NC_000014.9:g.95107663C>A	-
DICER1	Q9UPY3	p.Thr918Ser	RCV000572375	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107660T>A	ClinVar
DICER1	Q9UPY3	p.Thr918Ser	rs377326167	missense variant	-	NC_000014.9:g.95107660T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr918Ser	RCV000229873	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107660T>A	ClinVar
DICER1	Q9UPY3	p.Thr918Ala	rs377326167	missense variant	-	NC_000014.9:g.95107660T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys923Gln	rs1357513890	missense variant	-	NC_000014.9:g.95107645T>G	TOPMed
DICER1	Q9UPY3	p.Asp926His	RCV000460548	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107636C>G	ClinVar
DICER1	Q9UPY3	p.Asp926His	rs1060503645	missense variant	-	NC_000014.9:g.95107636C>G	-
DICER1	Q9UPY3	p.Val931Ile	rs1256068472	missense variant	-	NC_000014.9:g.95107621C>T	gnomAD
DICER1	Q9UPY3	p.Pro934Leu	rs1211667485	missense variant	-	NC_000014.9:g.95107611G>A	gnomAD
DICER1	Q9UPY3	p.Arg935Lys	rs757277030	missense variant	-	NC_000014.9:g.95107608C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg937Cys	rs1354833117	missense variant	-	NC_000014.9:g.95106219G>A	gnomAD
DICER1	Q9UPY3	p.Gln941Glu	RCV000467203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106207G>C	ClinVar
DICER1	Q9UPY3	p.Gln941Glu	rs1060503588	missense variant	-	NC_000014.9:g.95106207G>C	-
DICER1	Q9UPY3	p.Arg944Ter	RCV000493701	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	RCV000004727	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	RCV000240862	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Gln	RCV000654383	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106197C>T	ClinVar
DICER1	Q9UPY3	p.Arg944Gln	rs1555370340	missense variant	-	NC_000014.9:g.95106197C>T	-
DICER1	Q9UPY3	p.Arg944Ter	rs137852978	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95106198G>A	-
DICER1	Q9UPY3	p.Thr952Ser	RCV000566505	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106174T>A	ClinVar
DICER1	Q9UPY3	p.Thr952Ala	RCV000467314	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106174T>C	ClinVar
DICER1	Q9UPY3	p.Thr952Ser	rs1060503636	missense variant	-	NC_000014.9:g.95106174T>A	TOPMed
DICER1	Q9UPY3	p.Thr952Ala	rs1060503636	missense variant	-	NC_000014.9:g.95106174T>C	TOPMed
DICER1	Q9UPY3	p.Asp953Asn	rs745810853	missense variant	-	NC_000014.9:g.95106171C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu954Phe	rs1458698147	missense variant	-	NC_000014.9:g.95106168G>A	gnomAD
DICER1	Q9UPY3	p.Thr955Ter	RCV000240900	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
DICER1	Q9UPY3	p.del955del	RCV000240900	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
DICER1	Q9UPY3	p.Thr955Ile	rs1167965153	missense variant	-	NC_000014.9:g.95106164G>A	TOPMed
DICER1	Q9UPY3	p.Pro956Ter	RCV000240927	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
DICER1	Q9UPY3	p.del956del	RCV000240927	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
DICER1	Q9UPY3	p.Leu957Phe	RCV000466824	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159G>A	ClinVar
DICER1	Q9UPY3	p.Leu957Phe	rs1060503634	missense variant	-	NC_000014.9:g.95106159G>A	-
DICER1	Q9UPY3	p.Ser958Gly	RCV000562549	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106156T>C	ClinVar
DICER1	Q9UPY3	p.Ser958Gly	RCV000226550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106156T>C	ClinVar
DICER1	Q9UPY3	p.Ser958Gly	rs752905540	missense variant	-	NC_000014.9:g.95106156T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro963Ter	RCV000240864	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.del963del	RCV000240864	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.del963del	RCV000494157	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.Pro963Ter	RCV000494157	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.Pro963Leu	rs917082902	missense variant	-	NC_000014.9:g.95106140G>A	TOPMed
DICER1	Q9UPY3	p.Ala969Val	RCV000233100	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106122G>A	ClinVar
DICER1	Q9UPY3	p.Ala969Val	rs878855253	missense variant	-	NC_000014.9:g.95106122G>A	-
DICER1	Q9UPY3	p.Glu970Gln	RCV000572780	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106120C>G	ClinVar
DICER1	Q9UPY3	p.Glu970Gln	rs1555370302	missense variant	-	NC_000014.9:g.95106120C>G	-
DICER1	Q9UPY3	p.Lys973Asn	rs1555370297	missense variant	-	NC_000014.9:g.95106109T>G	-
DICER1	Q9UPY3	p.Lys973Asn	RCV000533030	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106109T>G	ClinVar
DICER1	Q9UPY3	p.Asn977Ser	rs1227283210	missense variant	-	NC_000014.9:g.95106098T>C	TOPMed
DICER1	Q9UPY3	p.Asn982Lys	RCV000462016	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106082A>T	ClinVar
DICER1	Q9UPY3	p.Asn982Ser	RCV000696284	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106083T>C	ClinVar
DICER1	Q9UPY3	p.Asn982Lys	rs1060503631	missense variant	-	NC_000014.9:g.95106082A>T	-
DICER1	Q9UPY3	p.Asn982Ser	rs1376668585	missense variant	-	NC_000014.9:g.95106083T>C	gnomAD
DICER1	Q9UPY3	p.Leu983Arg	rs766675570	missense variant	-	NC_000014.9:g.95106080A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu983Val	rs1267003109	missense variant	-	NC_000014.9:g.95106081G>C	gnomAD
DICER1	Q9UPY3	p.Leu983Phe	rs1267003109	missense variant	-	NC_000014.9:g.95106081G>A	gnomAD
DICER1	Q9UPY3	p.Leu983Pro	rs766675570	missense variant	-	NC_000014.9:g.95106080A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn984Ser	RCV000465498	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106077T>C	ClinVar
DICER1	Q9UPY3	p.Asn984Ser	RCV000563512	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106077T>C	ClinVar
DICER1	Q9UPY3	p.Asn984Thr	rs750932552	missense variant	-	NC_000014.9:g.95106077T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn984Ser	rs750932552	missense variant	-	NC_000014.9:g.95106077T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln985Ter	RCV000468167	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106076del	ClinVar
DICER1	Q9UPY3	p.Gln985Ter	RCV000654466	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106073delinsAA	ClinVar
DICER1	Q9UPY3	p.Val990Met	rs1443445976	missense variant	-	NC_000014.9:g.95106060C>T	gnomAD
DICER1	Q9UPY3	p.Thr1001Ile	rs756484303	missense variant	-	NC_000014.9:g.95105769G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1003Ter	RCV000465236	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105764G>A	ClinVar
DICER1	Q9UPY3	p.Arg1003Ter	RCV000851456	nonsense	-	NC_000014.9:g.95105764G>A	ClinVar
DICER1	Q9UPY3	p.Arg1003Ter	rs1060503605	stop gained	-	NC_000014.9:g.95105764G>A	gnomAD
DICER1	Q9UPY3	p.Gln1007Ter	RCV000524088	nonsense	-	NC_000014.9:g.95105752G>A	ClinVar
DICER1	Q9UPY3	p.Gln1007Ter	RCV000492911	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105752G>A	ClinVar
DICER1	Q9UPY3	p.Gln1007Ter	rs1131691189	stop gained	-	NC_000014.9:g.95105752G>A	-
DICER1	Q9UPY3	p.Lys1008Asn	rs750927764	missense variant	-	NC_000014.9:g.95105747C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1011Val	rs772243498	missense variant	-	NC_000014.9:g.95105739G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1011Val	RCV000654436	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105739G>A	ClinVar
DICER1	Q9UPY3	p.Ser1016Asn	RCV000689357	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105724C>T	ClinVar
DICER1	Q9UPY3	p.Lys1023Arg	rs762411266	missense variant	-	NC_000014.9:g.95105703T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Trp1024Leu	rs751053813	missense variant	-	NC_000014.9:g.95105700C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1025Gly	RCV000537842	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105697T>C	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	RCV000521958	nonsense	-	NC_000014.9:g.95105698C>A	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	RCV000493873	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105698C>A	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	rs1131691225	stop gained	-	NC_000014.9:g.95105698C>A	-
DICER1	Q9UPY3	p.Glu1025Gly	rs1191384264	missense variant	-	NC_000014.9:g.95105697T>C	gnomAD
DICER1	Q9UPY3	p.Ser1026Gly	rs763715930	missense variant	-	NC_000014.9:g.95105695T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1036Lys	rs749392411	missense variant	-	NC_000014.9:g.95105234C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1040Val	RCV000685635	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105222T>C	ClinVar
DICER1	Q9UPY3	p.Ile1040Val	RCV000497463	missense variant	-	NC_000014.9:g.95105222T>C	ClinVar
DICER1	Q9UPY3	p.Ile1040Val	rs1555370052	missense variant	-	NC_000014.9:g.95105222T>C	-
DICER1	Q9UPY3	p.Ile1040Met	rs1195908211	missense variant	-	NC_000014.9:g.95105220T>C	TOPMed
DICER1	Q9UPY3	p.Pro1042Ser	RCV000561799	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105216G>A	ClinVar
DICER1	Q9UPY3	p.Pro1042Ser	rs1555370050	missense variant	-	NC_000014.9:g.95105216G>A	-
DICER1	Q9UPY3	p.Ile1043Val	RCV000465152	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105213T>C	ClinVar
DICER1	Q9UPY3	p.Ile1043Val	RCV000564082	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105213T>C	ClinVar
DICER1	Q9UPY3	p.Ile1043Val	rs1060503592	missense variant	-	NC_000014.9:g.95105213T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1045Pro	RCV000230898	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105207C>G	ClinVar
DICER1	Q9UPY3	p.Ala1045Pro	rs878855255	missense variant	-	NC_000014.9:g.95105207C>G	-
DICER1	Q9UPY3	p.Ser1046Ter	RCV000240905	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
DICER1	Q9UPY3	p.del1046del	RCV000240905	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
DICER1	Q9UPY3	p.Leu1054Pro	RCV000691310	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105179A>G	ClinVar
DICER1	Q9UPY3	p.Pro1055Leu	rs1413756805	missense variant	-	NC_000014.9:g.95105176G>A	gnomAD
DICER1	Q9UPY3	p.Ile1057Val	rs769846317	missense variant	-	NC_000014.9:g.95105171T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1057Met	rs976698124	missense variant	-	NC_000014.9:g.95105169T>C	TOPMed
DICER1	Q9UPY3	p.Leu1058Ile	RCV000558190	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105168G>T	ClinVar
DICER1	Q9UPY3	p.Leu1058Ile	rs1555370024	missense variant	-	NC_000014.9:g.95105168G>T	-
DICER1	Q9UPY3	p.Tyr1059Ter	RCV000240943	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105167dup	ClinVar
DICER1	Q9UPY3	p.Arg1060Cys	RCV000498545	missense variant	-	NC_000014.9:g.95105162G>A	ClinVar
DICER1	Q9UPY3	p.Arg1060Cys	rs1555370020	missense variant	-	NC_000014.9:g.95105162G>A	-
DICER1	Q9UPY3	p.Arg1060Leu	RCV000687493	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105161C>A	ClinVar
DICER1	Q9UPY3	p.His1062Arg	rs1398724408	missense variant	-	NC_000014.9:g.95105155T>C	TOPMed
DICER1	Q9UPY3	p.Thr1066Ile	rs1313061695	missense variant	-	NC_000014.9:g.95105143G>A	gnomAD
DICER1	Q9UPY3	p.Ala1067Thr	rs1385079711	missense variant	-	NC_000014.9:g.95105141C>T	gnomAD
DICER1	Q9UPY3	p.Thr1074Ile	RCV000472928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105119G>A	ClinVar
DICER1	Q9UPY3	p.Thr1074Ile	rs1060503653	missense variant	-	NC_000014.9:g.95105119G>A	-
DICER1	Q9UPY3	p.Ser1076Asn	RCV000476968	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105113C>T	ClinVar
DICER1	Q9UPY3	p.Ser1076Arg	RCV000569044	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105112G>T	ClinVar
DICER1	Q9UPY3	p.Ser1076Asn	rs778494781	missense variant	-	NC_000014.9:g.95105113C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1077Asn	RCV000654460	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105111C>T	ClinVar
DICER1	Q9UPY3	p.Asp1077His	rs373412959	missense variant	-	NC_000014.9:g.95105111C>G	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1077Asn	rs373412959	missense variant	-	NC_000014.9:g.95105111C>T	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1078Ser	rs1488726216	missense variant	-	NC_000014.9:g.95105108C>A	gnomAD
DICER1	Q9UPY3	p.Arg1083Ser	RCV000654421	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105091T>A	ClinVar
DICER1	Q9UPY3	p.Arg1083Thr	RCV000459111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105092C>G	ClinVar
DICER1	Q9UPY3	p.Arg1083Thr	rs1060503616	missense variant	-	NC_000014.9:g.95105092C>G	-
DICER1	Q9UPY3	p.Arg1083Ser	rs1291112028	missense variant	-	NC_000014.9:g.95105091T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Val	RCV000471385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>A	ClinVar
DICER1	Q9UPY3	p.Ala1087Val	RCV000572177	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>A	ClinVar
DICER1	Q9UPY3	p.Ala1087Glu	RCV000551807	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>T	ClinVar
DICER1	Q9UPY3	p.Ala1087Gly	RCV000561162	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>C	ClinVar
DICER1	Q9UPY3	p.Ala1087Gly	RCV000525561	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>C	ClinVar
DICER1	Q9UPY3	p.Ala1087Glu	rs180918578	missense variant	-	NC_000014.9:g.95105080G>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Gly	rs180918578	missense variant	-	NC_000014.9:g.95105080G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Val	rs180918578	missense variant	-	NC_000014.9:g.95105080G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1088Glu	rs376110719	missense variant	-	NC_000014.9:g.95105076A>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1091Phe	RCV000540270	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104124T>A	ClinVar
DICER1	Q9UPY3	p.Tyr1091Ter	RCV000240881	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104123G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1091Ter	RCV000851457	nonsense	-	NC_000014.9:g.95104123G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1091Phe	rs1442769827	missense variant	-	NC_000014.9:g.95104124T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1091Ter	rs886037698	stop gained	-	NC_000014.9:g.95104123G>C	-
DICER1	Q9UPY3	p.Pro1092Ter	RCV000493882	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Pro1092Ter	RCV000240906	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Pro1092Arg	rs1196047547	missense variant	-	NC_000014.9:g.95104121G>C	TOPMed
DICER1	Q9UPY3	p.del1093del	RCV000493882	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.del1093del	RCV000240906	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Gly1097Val	RCV000706333	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104106C>A	ClinVar
DICER1	Q9UPY3	p.Gly1097Arg	rs1466088737	missense variant	-	NC_000014.9:g.95104107C>T	gnomAD
DICER1	Q9UPY3	p.Lys1099Glu	RCV000695400	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101T>C	ClinVar
DICER1	Q9UPY3	p.Lys1099Arg	rs1356351330	missense variant	-	NC_000014.9:g.95104100T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1099Arg	RCV000690410	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104100T>C	ClinVar
DICER1	Q9UPY3	p.Lys1100Ter	RCV000493122	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.del1100del	RCV000493122	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.Lys1100Ter	RCV000240946	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.del1100del	RCV000240946	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.Lys1100Asn	rs1417728231	missense variant	-	NC_000014.9:g.95104096T>G	TOPMed
DICER1	Q9UPY3	p.Ser1101Cys	RCV000553084	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104094G>C	ClinVar
DICER1	Q9UPY3	p.Ser1101Cys	rs779748717	missense variant	-	NC_000014.9:g.95104094G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1102Val	rs750159753	missense variant	-	NC_000014.9:g.95104092T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1102Phe	rs750159753	missense variant	-	NC_000014.9:g.95104092T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1103Val	RCV000696513	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104088T>A	ClinVar
DICER1	Q9UPY3	p.Ser1104Arg	RCV000654384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104084G>C	ClinVar
DICER1	Q9UPY3	p.Ser1104Arg	rs1555369738	missense variant	-	NC_000014.9:g.95104084G>C	-
DICER1	Q9UPY3	p.Ser1106Tyr	rs761613375	missense variant	-	NC_000014.9:g.95104079G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1108Val	rs751551790	missense variant	-	NC_000014.9:g.95104074T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1110Ser	RCV000561530	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104067A>C	ClinVar
DICER1	Q9UPY3	p.Ile1110Val	RCV000697698	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104068T>C	ClinVar
DICER1	Q9UPY3	p.Ile1110Ser	rs759760077	missense variant	-	NC_000014.9:g.95104067A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1110Ser	RCV000458245	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104067A>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	RCV000280432	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95104062T>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	RCV000462299	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104062T>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	rs587778229	missense variant	-	NC_000014.9:g.95104062T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1113Tyr	RCV000476785	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104058G>T	ClinVar
DICER1	Q9UPY3	p.Ser1113Tyr	RCV000571981	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104058G>T	ClinVar
DICER1	Q9UPY3	p.Ser1113Tyr	rs143841809	missense variant	-	NC_000014.9:g.95104058G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1113Phe	rs143841809	missense variant	-	NC_000014.9:g.95104058G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1114Cys	RCV000687116	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104055G>C	ClinVar
DICER1	Q9UPY3	p.Ser1114Cys	rs1278843875	missense variant	-	NC_000014.9:g.95104055G>C	gnomAD
DICER1	Q9UPY3	p.Ser1115Ter	rs1255583940	stop gained	-	NC_000014.9:g.95104052G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1116Ter	RCV000493717	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104051dup	ClinVar
DICER1	Q9UPY3	p.Ala1116Asp	rs1236050119	missense variant	-	NC_000014.9:g.95104049G>T	gnomAD
DICER1	Q9UPY3	p.Glu1117Ter	rs1060503617	stop gained	-	NC_000014.9:g.95104047C>A	-
DICER1	Q9UPY3	p.Glu1117Ter	RCV000468408	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104047C>A	ClinVar
DICER1	Q9UPY3	p.Asn1118Ser	RCV000471510	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104043T>C	ClinVar
DICER1	Q9UPY3	p.Asn1118Ser	rs773410751	missense variant	-	NC_000014.9:g.95104043T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1120Ser	rs1555369701	missense variant	-	NC_000014.9:g.95104037T>C	-
DICER1	Q9UPY3	p.Asn1120Ser	RCV000654468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104037T>C	ClinVar
DICER1	Q9UPY3	p.Cys1122Arg	RCV000552304	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104032A>G	ClinVar
DICER1	Q9UPY3	p.Cys1122Arg	rs1555369696	missense variant	-	NC_000014.9:g.95104032A>G	-
DICER1	Q9UPY3	p.His1124Pro	rs534996867	missense variant	-	NC_000014.9:g.95104025T>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1125Asn	RCV000234636	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104022C>T	ClinVar
DICER1	Q9UPY3	p.Ser1125Asn	RCV000568324	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104022C>T	ClinVar
DICER1	Q9UPY3	p.Ser1125Asn	rs748581847	missense variant	-	NC_000014.9:g.95104022C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1126Ala	rs1296404230	missense variant	-	NC_000014.9:g.95104020T>C	gnomAD
DICER1	Q9UPY3	p.Ile1127Ser	RCV000476694	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104016A>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Val	RCV000530594	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104017T>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Ser	RCV000564833	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104016A>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Val	rs779530679	missense variant	-	NC_000014.9:g.95104017T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1127Ser	rs567895583	missense variant	-	NC_000014.9:g.95104016A>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1129Ser	rs1175693367	missense variant	-	NC_000014.9:g.95104011G>A	gnomAD
DICER1	Q9UPY3	p.Glu1130Ala	rs748728275	missense variant	-	NC_000014.9:g.95104007T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1130Lys	rs1555369685	missense variant	-	NC_000014.9:g.95104008C>T	-
DICER1	Q9UPY3	p.Glu1130Lys	RCV000654471	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104008C>T	ClinVar
DICER1	Q9UPY3	p.Asn1131Ser	RCV000468980	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104004T>C	ClinVar
DICER1	Q9UPY3	p.Asn1131Ser	rs200651335	missense variant	-	NC_000014.9:g.95104004T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1133Thr	RCV000563850	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103999C>T	ClinVar
DICER1	Q9UPY3	p.Ala1133Thr	rs1555369675	missense variant	-	NC_000014.9:g.95103999C>T	-
DICER1	Q9UPY3	p.His1134Leu	rs1159674119	missense variant	-	NC_000014.9:g.95103995T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1135Lys	RCV000654377	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103993G>T	ClinVar
DICER1	Q9UPY3	p.Gln1135Lys	rs755711684	missense variant	-	NC_000014.9:g.95103993G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1139Ser	RCV000572785	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103979T>A	ClinVar
DICER1	Q9UPY3	p.Arg1139Ser	rs750104632	missense variant	-	NC_000014.9:g.95103979T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1139Ser	RCV000456808	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103979T>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	RCV000477099	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103974G>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	RCV000570654	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103974G>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	rs780815020	missense variant	-	NC_000014.9:g.95103974G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1142Pro	RCV000699665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103972A>G	ClinVar
DICER1	Q9UPY3	p.Ser1142Phe	rs1212563071	missense variant	-	NC_000014.9:g.95103971G>A	gnomAD
DICER1	Q9UPY3	p.Ser1142Pro	rs1257619891	missense variant	-	NC_000014.9:g.95103972A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1143Pro	RCV000564869	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103968A>G	ClinVar
DICER1	Q9UPY3	p.Leu1143Ile	rs375211466	missense variant	-	NC_000014.9:g.95103969G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1143Pro	rs139786661	missense variant	-	NC_000014.9:g.95103968A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His1146Arg	RCV000686020	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103959T>C	ClinVar
DICER1	Q9UPY3	p.His1146Asp	rs1240541454	missense variant	-	NC_000014.9:g.95103960G>C	gnomAD
DICER1	Q9UPY3	p.Gln1148Arg	rs764029077	missense variant	-	NC_000014.9:g.95103953T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1149Ile	RCV000557215	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103949C>G	ClinVar
DICER1	Q9UPY3	p.Met1149Ile	rs1304695583	missense variant	-	NC_000014.9:g.95103949C>G	gnomAD
DICER1	Q9UPY3	p.Met1149Ile	rs1304695583	missense variant	-	NC_000014.9:g.95103949C>T	gnomAD
DICER1	Q9UPY3	p.Ser1150Phe	RCV000701612	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103947G>A	ClinVar
DICER1	Q9UPY3	p.Val1151Ter	RCV000564921	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103943_95103944CA[1]	ClinVar
DICER1	Q9UPY3	p.Val1151Ala	rs1321219152	missense variant	-	NC_000014.9:g.95103944A>G	TOPMed
DICER1	Q9UPY3	p.Cys1153Gly	RCV000468990	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103939A>C	ClinVar
DICER1	Q9UPY3	p.Cys1153Phe	RCV000654401	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103938C>A	ClinVar
DICER1	Q9UPY3	p.Cys1153Phe	rs762999390	missense variant	-	NC_000014.9:g.95103938C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Cys1153Tyr	rs762999390	missense variant	-	NC_000014.9:g.95103938C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Cys1153Gly	rs1060503607	missense variant	-	NC_000014.9:g.95103939A>C	-
DICER1	Q9UPY3	p.Arg1154Ile	RCV000530978	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103935C>A	ClinVar
DICER1	Q9UPY3	p.Arg1154Ser	RCV000545736	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103934T>G	ClinVar
DICER1	Q9UPY3	p.Arg1154Ser	rs192822778	missense variant	-	NC_000014.9:g.95103934T>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1154Ile	rs1555369626	missense variant	-	NC_000014.9:g.95103935C>A	-
DICER1	Q9UPY3	p.Thr1155Met	rs766598800	missense variant	-	NC_000014.9:g.95103932G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1156Val	RCV000206633	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103930A>C	ClinVar
DICER1	Q9UPY3	p.Leu1156Val	rs760950917	missense variant	-	NC_000014.9:g.95103930A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1158Cys	RCV000654371	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103924T>A	ClinVar
DICER1	Q9UPY3	p.Ser1158Cys	rs949633145	missense variant	-	NC_000014.9:g.95103924T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1159Lys	RCV000654385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103921C>T	ClinVar
DICER1	Q9UPY3	p.Glu1159Lys	rs145693584	missense variant	-	NC_000014.9:g.95103921C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1159Gln	rs145693584	missense variant	-	NC_000014.9:g.95103921C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1160Tyr	RCV000565593	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103917G>T	ClinVar
DICER1	Q9UPY3	p.Ser1160Thr	rs1354557070	missense variant	-	NC_000014.9:g.95103918A>T	TOPMed
DICER1	Q9UPY3	p.Ser1160Tyr	rs774583162	missense variant	-	NC_000014.9:g.95103917G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1160Tyr	RCV000228406	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103917G>T	ClinVar
DICER1	Q9UPY3	p.Pro1161Ser	rs1476564840	missense variant	-	NC_000014.9:g.95103915G>A	gnomAD
DICER1	Q9UPY3	p.Gly1162Ser	rs1287752405	missense variant	-	NC_000014.9:g.95103912C>T	TOPMed
DICER1	Q9UPY3	p.Leu1164His	rs1424957932	missense variant	-	NC_000014.9:g.95103905A>T	gnomAD
DICER1	Q9UPY3	p.His1165Gln	rs372581591	missense variant	-	NC_000014.9:g.95103901G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His1165Gln	rs372581591	missense variant	-	NC_000014.9:g.95103901G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1166Ile	RCV000232173	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103900C>T	ClinVar
DICER1	Q9UPY3	p.Val1166Ile	rs368588781	missense variant	-	NC_000014.9:g.95103900C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1167Asp	RCV000544961	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103895T>A	ClinVar
DICER1	Q9UPY3	p.Glu1167Asp	rs878855258	missense variant	-	NC_000014.9:g.95103895T>A	-
DICER1	Q9UPY3	p.Glu1167Lys	RCV000654391	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103897C>T	ClinVar
DICER1	Q9UPY3	p.Glu1167Lys	rs1456267980	missense variant	-	NC_000014.9:g.95103897C>T	TOPMed
DICER1	Q9UPY3	p.Ala1170Thr	RCV000706636	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103888C>T	ClinVar
DICER1	Q9UPY3	p.Ala1170Gly	rs1484416477	missense variant	-	NC_000014.9:g.95103887G>C	gnomAD
DICER1	Q9UPY3	p.Asp1171Gly	rs953998753	missense variant	-	NC_000014.9:g.95103884T>C	TOPMed
DICER1	Q9UPY3	p.Leu1172Ter	RCV000240884	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.Leu1172Ter	RCV000494025	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.del1172del	RCV000240884	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.del1172del	RCV000494025	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.Leu1172Ile	rs1028179766	missense variant	-	NC_000014.9:g.95103882G>T	TOPMed
DICER1	Q9UPY3	p.Thr1173Ile	RCV000472462	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103878G>A	ClinVar
DICER1	Q9UPY3	p.Thr1173Lys	rs769329149	missense variant	-	NC_000014.9:g.95103878G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1173Ile	rs769329149	missense variant	-	NC_000014.9:g.95103878G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1176Ser	RCV000537925	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103869T>C	ClinVar
DICER1	Q9UPY3	p.Asn1176Ser	rs1555369577	missense variant	-	NC_000014.9:g.95103869T>C	-
DICER1	Q9UPY3	p.Gly1177Val	RCV000563568	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103866C>A	ClinVar
DICER1	Q9UPY3	p.Gly1177Val	rs1160985143	missense variant	-	NC_000014.9:g.95103866C>A	TOPMed
DICER1	Q9UPY3	p.Gly1177Cys	rs1486689185	missense variant	-	NC_000014.9:g.95103867C>A	gnomAD
DICER1	Q9UPY3	p.Leu1178Phe	RCV000547588	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103864G>A	ClinVar
DICER1	Q9UPY3	p.Leu1178Arg	rs1412362102	missense variant	-	NC_000014.9:g.95103863A>C	TOPMed
DICER1	Q9UPY3	p.Leu1178Phe	rs780952666	missense variant	-	NC_000014.9:g.95103864G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1179Ter	RCV000493223	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103858_95103861AAGA[1]	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	RCV000575641	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103860G>C	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	RCV000464700	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103860G>C	ClinVar
DICER1	Q9UPY3	p.Ser1179Ter	RCV000240923	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
DICER1	Q9UPY3	p.del1179del	RCV000240923	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	rs1060503585	missense variant	-	NC_000014.9:g.95103860G>C	gnomAD
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000240949	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103857_95103858del	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000240887	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000627259	nonsense	-	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000492848	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103857_95103858del	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000494658	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	rs886037704	stop gained	-	NC_000014.9:g.95103856G>T	-
DICER1	Q9UPY3	p.Asn1183Ser	rs1238231746	missense variant	-	NC_000014.9:g.95103848T>C	gnomAD
DICER1	Q9UPY3	p.Ala1185Thr	RCV000761100	missense variant	Acute myeloid leukemia (AML)	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	RCV000573896	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	rs150514959	missense variant	-	NC_000014.9:g.95103843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1185Thr	RCV000231625	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Asn1186Ser	RCV000536034	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103839T>C	ClinVar
DICER1	Q9UPY3	p.Asn1186Ser	rs201523588	missense variant	-	NC_000014.9:g.95103839T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1186Ile	rs201523588	missense variant	-	NC_000014.9:g.95103839T>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1187Asp	rs559078811	missense variant	-	NC_000014.9:g.95103836C>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1189Asn	rs1258777784	missense variant	-	NC_000014.9:g.95103831A>T	gnomAD
DICER1	Q9UPY3	p.Leu1191Phe	rs1316149579	missense variant	-	NC_000014.9:g.95103823T>G	gnomAD
DICER1	Q9UPY3	p.Asn1193Ter	RCV000240911	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103817_95103818del	ClinVar
DICER1	Q9UPY3	p.Asn1193Ser	RCV000765196	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103818T>C	ClinVar
DICER1	Q9UPY3	p.Asn1193Asp	rs1383245596	missense variant	-	NC_000014.9:g.95103819T>C	gnomAD
DICER1	Q9UPY3	p.Asn1193Ser	RCV000690265	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103818T>C	ClinVar
DICER1	Q9UPY3	p.Asn1193Ser	rs1288723916	missense variant	-	NC_000014.9:g.95103818T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1194Gly	rs766545351	missense variant	-	NC_000014.9:g.95103816T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1195His	RCV000569208	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103813C>G	ClinVar
DICER1	Q9UPY3	p.Asp1195His	rs1555369546	missense variant	-	NC_000014.9:g.95103813C>G	-
DICER1	Q9UPY3	p.Cys1197Ter	RCV000240953	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.del1197del	RCV000240953	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.del1197del	RCV000492875	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Cys1197Ter	RCV000492875	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Cys1197Ter	RCV000698895	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103805G>T	ClinVar
DICER1	Q9UPY3	p.Asn1200Asp	rs966682402	missense variant	-	NC_000014.9:g.95103798T>C	gnomAD
DICER1	Q9UPY3	p.Gln1201Glu	RCV000689751	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103795G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1204Ter	RCV000056333	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103780_95103785delinsA	ClinVar
DICER1	Q9UPY3	p.Lys1206Glu	RCV000386930	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103780T>C	ClinVar
DICER1	Q9UPY3	p.Lys1206Glu	rs886050942	missense variant	-	NC_000014.9:g.95103780T>C	-
DICER1	Q9UPY3	p.Lys1206Arg	rs761954648	missense variant	-	NC_000014.9:g.95103779T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1210Ser	RCV000466992	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103768G>A	ClinVar
DICER1	Q9UPY3	p.Pro1210Ser	RCV000570577	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103768G>A	ClinVar
DICER1	Q9UPY3	p.Pro1210Ser	rs200925349	missense variant	-	NC_000014.9:g.95103768G>A	TOPMed
DICER1	Q9UPY3	p.Val1211Met	RCV000525096	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>T	ClinVar
DICER1	Q9UPY3	p.Val1211Met	RCV000568526	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>T	ClinVar
DICER1	Q9UPY3	p.Val1211Leu	RCV000474677	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>G	ClinVar
DICER1	Q9UPY3	p.Val1211Leu	rs764470378	missense variant	-	NC_000014.9:g.95103765C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Leu	rs764470378	missense variant	-	NC_000014.9:g.95103765C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Leu	RCV000571532	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>A	ClinVar
DICER1	Q9UPY3	p.Val1211Met	rs764470378	missense variant	-	NC_000014.9:g.95103765C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1212Pro	RCV000539806	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103761T>G	ClinVar
DICER1	Q9UPY3	p.Gln1212Pro	rs763415569	missense variant	-	NC_000014.9:g.95103761T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1213Ala	RCV000554547	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103759G>C	ClinVar
DICER1	Q9UPY3	p.Pro1213Ala	rs965289045	missense variant	-	NC_000014.9:g.95103759G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1214Ala	RCV000528300	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103756T>C	ClinVar
DICER1	Q9UPY3	p.Thr1214Ile	RCV000654473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103755G>A	ClinVar
DICER1	Q9UPY3	p.Thr1214Ile	rs769277842	missense variant	-	NC_000014.9:g.95103755G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1214Ala	rs776023608	missense variant	-	NC_000014.9:g.95103756T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1214Ala	RCV000570947	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103756T>C	ClinVar
DICER1	Q9UPY3	p.Ser1218Tyr	RCV000706017	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>T	ClinVar
DICER1	Q9UPY3	p.Ser1218Cys	RCV000540029	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>C	ClinVar
DICER1	Q9UPY3	p.Ser1218Cys	rs1197755223	missense variant	-	NC_000014.9:g.95103743G>C	TOPMed
DICER1	Q9UPY3	p.Gln1220Ter	RCV000240890	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103738G>A	ClinVar
DICER1	Q9UPY3	p.Gln1220Pro	rs776020604	missense variant	-	NC_000014.9:g.95103737T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1220Pro	RCV000654404	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103737T>G	ClinVar
DICER1	Q9UPY3	p.Gln1220Ter	RCV000494215	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103738G>A	ClinVar
DICER1	Q9UPY3	p.Gln1220Ter	rs886037707	stop gained	-	NC_000014.9:g.95103738G>A	-
DICER1	Q9UPY3	p.Gln1220Arg	rs776020604	missense variant	-	NC_000014.9:g.95103737T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1223His	RCV000461690	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103729A>G	ClinVar
DICER1	Q9UPY3	p.Tyr1223His	rs1006671935	missense variant	-	NC_000014.9:g.95103729A>G	-
DICER1	Q9UPY3	p.Ser1224Asn	RCV000554774	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103725C>T	ClinVar
DICER1	Q9UPY3	p.Ser1224Asn	rs1555369495	missense variant	-	NC_000014.9:g.95103725C>T	-
DICER1	Q9UPY3	p.Tyr1225Ter	rs184830847	stop gained	-	NC_000014.9:g.95103721G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1225Cys	RCV000330036	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103722T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1225Cys	rs146584765	missense variant	-	NC_000014.9:g.95103722T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1225Ter	RCV000494286	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103721G>C	ClinVar
DICER1	Q9UPY3	p.Glu1226Lys	RCV000569335	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103720C>T	ClinVar
DICER1	Q9UPY3	p.Glu1226Ala	RCV000823417	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103719T>G	ClinVar
DICER1	Q9UPY3	p.Glu1226Lys	RCV000464309	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>T	ClinVar
DICER1	Q9UPY3	p.Glu1226Ter	RCV000240916	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
DICER1	Q9UPY3	p.del1226del	RCV000240916	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
DICER1	Q9UPY3	p.Glu1226Ala	RCV000561188	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103719T>G	ClinVar
DICER1	Q9UPY3	p.Glu1226Ter	rs748087536	stop gained	-	NC_000014.9:g.95103720C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Ala	rs779062746	missense variant	-	NC_000014.9:g.95103719T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Lys	rs748087536	missense variant	-	NC_000014.9:g.95103720C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1227Lys	RCV000533075	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103715G>T	ClinVar
DICER1	Q9UPY3	p.Asn1227Lys	rs750457254	missense variant	-	NC_000014.9:g.95103715G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1228Ter	RCV000761893	nonsense	-	NC_000014.9:g.95103714G>A	ClinVar
DICER1	Q9UPY3	p.Pro1229Arg	rs1370940293	missense variant	-	NC_000014.9:g.95103710G>C	gnomAD
DICER1	Q9UPY3	p.Gln1230Ter	RCV000699486	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103708G>A	ClinVar
DICER1	Q9UPY3	p.Ser1232Asn	RCV000469516	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103701C>T	ClinVar
DICER1	Q9UPY3	p.Ser1232Asn	rs1060503597	missense variant	-	NC_000014.9:g.95103701C>T	-
DICER1	Q9UPY3	p.Asp1233Asn	RCV000532307	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103699C>T	ClinVar
DICER1	Q9UPY3	p.Asp1233Asn	rs1454503348	missense variant	-	NC_000014.9:g.95103699C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1233Asn	RCV000564362	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103699C>T	ClinVar
DICER1	Q9UPY3	p.Cys1235Tyr	rs1464737401	missense variant	-	NC_000014.9:g.95103692C>T	TOPMed
DICER1	Q9UPY3	p.Leu1237Phe	rs757460313	missense variant	-	NC_000014.9:g.95103687G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1238Pro	RCV000472528	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103683A>G	ClinVar
DICER1	Q9UPY3	p.Leu1238Pro	rs1060503603	missense variant	-	NC_000014.9:g.95103683A>G	-
DICER1	Q9UPY3	p.Ser1239Gly	rs751765488	missense variant	-	NC_000014.9:g.95103681T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1241Arg	RCV000765195	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Lys1241Arg	RCV000567535	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Lys1241Arg	rs764415288	missense variant	-	NC_000014.9:g.95103674T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1241Arg	RCV000547038	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000494497	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000493027	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000240955	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103670G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	rs886037708	stop gained	-	NC_000014.9:g.95103670G>T	gnomAD
DICER1	Q9UPY3	p.Tyr1242Asp	rs1273768047	missense variant	-	NC_000014.9:g.95103672A>C	gnomAD
DICER1	Q9UPY3	p.Tyr1242Asp	RCV000561586	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103672A>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	rs886037708	stop gained	-	NC_000014.9:g.95103670G>C	gnomAD
DICER1	Q9UPY3	p.Leu1243Pro	RCV000562517	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103668A>G	ClinVar
DICER1	Q9UPY3	p.Leu1243Pro	RCV000556615	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103668A>G	ClinVar
DICER1	Q9UPY3	p.Leu1243Pro	rs561584807	missense variant	-	NC_000014.9:g.95103668A>G	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1244His	rs1250903139	missense variant	-	NC_000014.9:g.95103666C>G	gnomAD
DICER1	Q9UPY3	p.Lys1249Arg	RCV000459857	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103650T>C	ClinVar
DICER1	Q9UPY3	p.Lys1249Arg	rs527872690	missense variant	-	NC_000014.9:g.95103650T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1254Glu	rs1440770707	missense variant	-	NC_000014.9:g.95103635C>T	gnomAD
DICER1	Q9UPY3	p.Ser1255Thr	rs199526737	missense variant	-	NC_000014.9:g.95103632C>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val1257Leu	rs1392282413	missense variant	-	NC_000014.9:g.95103627C>A	gnomAD
DICER1	Q9UPY3	p.Met1258Thr	RCV000467810	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103623A>G	ClinVar
DICER1	Q9UPY3	p.Met1258Ile	rs1392589360	missense variant	-	NC_000014.9:g.95103622C>A	gnomAD
DICER1	Q9UPY3	p.Met1258Thr	rs144095207	missense variant	-	NC_000014.9:g.95103623A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1260Ile	RCV000463245	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103618C>T	ClinVar
DICER1	Q9UPY3	p.del1260del	RCV000240892	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
DICER1	Q9UPY3	p.Val1260Ter	RCV000240892	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
DICER1	Q9UPY3	p.Val1260Ile	rs763425076	missense variant	-	NC_000014.9:g.95103618C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1263Ala	rs771990285	missense variant	-	NC_000014.9:g.95103608C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1263Asp	rs771990285	missense variant	-	NC_000014.9:g.95103608C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1264Met	RCV000459272	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103605G>A	ClinVar
DICER1	Q9UPY3	p.Thr1264Met	rs139346443	missense variant	-	NC_000014.9:g.95103605G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1264Met	RCV000569382	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103605G>A	ClinVar
DICER1	Q9UPY3	p.Asp1266Glu	RCV000699111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103598G>C	ClinVar
DICER1	Q9UPY3	p.Asp1266His	RCV000459002	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103600C>G	ClinVar
DICER1	Q9UPY3	p.Asp1266Ala	rs368610812	missense variant	-	NC_000014.9:g.95103599T>G	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1266Glu	rs1183908844	missense variant	-	NC_000014.9:g.95103598G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1266His	rs1060503654	missense variant	-	NC_000014.9:g.95103600C>G	-
DICER1	Q9UPY3	p.Thr1267Ala	rs953855540	missense variant	-	NC_000014.9:g.95103597T>C	TOPMed
DICER1	Q9UPY3	p.Gln1269Glu	rs1277796753	missense variant	-	NC_000014.9:g.95103591G>C	TOPMed
DICER1	Q9UPY3	p.Val1270Met	RCV000700769	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103588C>T	ClinVar
DICER1	Q9UPY3	p.Leu1271Phe	RCV000702550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103585G>A	ClinVar
DICER1	Q9UPY3	p.Leu1271Phe	rs1249975103	missense variant	-	NC_000014.9:g.95103585G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1271Pro	rs1178292163	missense variant	-	NC_000014.9:g.95103584A>G	gnomAD
DICER1	Q9UPY3	p.Lys1272Asn	RCV000695971	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103580C>G	ClinVar
DICER1	Q9UPY3	p.Lys1272Arg	RCV000534087	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103581T>C	ClinVar
DICER1	Q9UPY3	p.Lys1272Arg	rs151197809	missense variant	-	NC_000014.9:g.95103581T>C	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1274Gly	rs142193936	missense variant	-	NC_000014.9:g.95103576T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1275Val	rs751764482	missense variant	-	NC_000014.9:g.95103573T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1275Val	RCV000561792	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103573T>C	ClinVar
DICER1	Q9UPY3	p.Met1275Val	RCV000225860	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103573T>C	ClinVar
DICER1	Q9UPY3	p.Met1275Ile	rs778033280	missense variant	-	NC_000014.9:g.95103571C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1276Gly	rs758636143	missense variant	-	NC_000014.9:g.95103569T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1276Gly	RCV000472875	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103569T>C	ClinVar
DICER1	Q9UPY3	p.Asp1276Glu	rs753013678	missense variant	-	NC_000014.9:g.95103568A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1280Cys	rs148696745	missense variant	-	NC_000014.9:g.95103558T>A	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1280Cys	RCV000654464	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103558T>A	ClinVar
DICER1	Q9UPY3	p.Ser1280Gly	rs148696745	missense variant	-	NC_000014.9:g.95103558T>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1281Leu	RCV000549005	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103554G>A	ClinVar
DICER1	Q9UPY3	p.Pro1281Leu	rs1306948597	missense variant	-	NC_000014.9:g.95103554G>A	gnomAD
DICER1	Q9UPY3	p.Ile1283Val	RCV000527104	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103549T>C	ClinVar
DICER1	Q9UPY3	p.Ile1283Val	RCV000576059	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103549T>C	ClinVar
DICER1	Q9UPY3	p.Ile1283Val	rs548255758	missense variant	-	NC_000014.9:g.95103549T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1283Thr	rs754352488	missense variant	-	NC_000014.9:g.95103548A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1283Thr	RCV000229624	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103548A>G	ClinVar
DICER1	Q9UPY3	p.Gly1284Ala	RCV000571006	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103545C>G	ClinVar
DICER1	Q9UPY3	p.Gly1284Ala	rs563395930	missense variant	-	NC_000014.9:g.95103545C>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1286Ala	rs111495226	missense variant	-	NC_000014.9:g.95103540A>C	TOPMed
DICER1	Q9UPY3	p.Ser1286Phe	RCV000699923	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103539G>A	ClinVar
DICER1	Q9UPY3	p.Ser1287Ala	rs373980178	missense variant	-	NC_000014.9:g.95103537A>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ser1287Leu	rs1263628434	missense variant	-	NC_000014.9:g.95103536G>A	gnomAD
DICER1	Q9UPY3	p.Leu1290Phe	RCV000456821	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103528G>A	ClinVar
DICER1	Q9UPY3	p.Leu1290Phe	rs1060503650	missense variant	-	NC_000014.9:g.95103528G>A	-
DICER1	Q9UPY3	p.Pro1292Ter	RCV000240929	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
DICER1	Q9UPY3	p.del1292del	RCV000240929	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
DICER1	Q9UPY3	p.Pro1292Thr	rs1415495347	missense variant	-	NC_000014.9:g.95103522G>T	TOPMed
DICER1	Q9UPY3	p.Asn1293Ser	RCV000575772	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103518T>C	ClinVar
DICER1	Q9UPY3	p.Asn1293Thr	rs772855134	missense variant	-	NC_000014.9:g.95103518T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1293Ser	RCV000537430	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518T>C	ClinVar
DICER1	Q9UPY3	p.Asn1293Ser	rs772855134	missense variant	-	NC_000014.9:g.95103518T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1297Thr	RCV000765194	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
DICER1	Q9UPY3	p.Ile1297Asn	rs761578934	missense variant	-	NC_000014.9:g.95103506A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1297Thr	RCV000654472	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
DICER1	Q9UPY3	p.Ile1297Thr	rs761578934	missense variant	-	NC_000014.9:g.95103506A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1300Asp	rs774248214	missense variant	-	NC_000014.9:g.95103497G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1300Thr	RCV000233539	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103498C>T	ClinVar
DICER1	Q9UPY3	p.Ala1300Thr	rs878855260	missense variant	-	NC_000014.9:g.95103498C>T	-
DICER1	Q9UPY3	p.Leu1301Ser	rs1363268262	missense variant	-	NC_000014.9:g.95103494A>G	gnomAD
DICER1	Q9UPY3	p.Leu1303Ter	RCV000056332	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103488_95103489AG[1]	ClinVar
DICER1	Q9UPY3	p.Leu1315Phe	RCV000691665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103453G>A	ClinVar
DICER1	Q9UPY3	p.Leu1315His	rs779909779	missense variant	-	NC_000014.9:g.95103452A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1315Pro	rs779909779	missense variant	-	NC_000014.9:g.95103452A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1316Ter	rs771037069	stop gained	-	NC_000014.9:g.95103450C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1318Phe	RCV000542192	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103444G>A	ClinVar
DICER1	Q9UPY3	p.Leu1318Phe	rs1555369315	missense variant	-	NC_000014.9:g.95103444G>A	-
DICER1	Q9UPY3	p.Asp1320Ter	RCV000851463	frameshift	-	NC_000014.9:g.95103439dup	ClinVar
DICER1	Q9UPY3	p.Asp1320Ter	RCV000697367	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103439dup	ClinVar
DICER1	Q9UPY3	p.Lys1324Ter	rs1273980412	stop gained	-	NC_000014.9:g.95103426T>A	TOPMed
DICER1	Q9UPY3	p.Thr1329Arg	RCV000232820	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103410G>C	ClinVar
DICER1	Q9UPY3	p.Thr1329Arg	rs878855261	missense variant	-	NC_000014.9:g.95103410G>C	-
DICER1	Q9UPY3	p.Tyr1330Ter	RCV000493021	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103406_95103407AT[1]	ClinVar
DICER1	Q9UPY3	p.Thr1334Ile	RCV000526668	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103395G>A	ClinVar
DICER1	Q9UPY3	p.Thr1334Ile	rs1555369296	missense variant	-	NC_000014.9:g.95103395G>A	-
DICER1	Q9UPY3	p.Tyr1335Ter	RCV000227857	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103392dup	ClinVar
DICER1	Q9UPY3	p.Tyr1335Ter	rs878855262	stop gained	-	NC_000014.9:g.95103392dup	-
DICER1	Q9UPY3	p.Tyr1335Ter	rs755357184	stop gained	-	NC_000014.9:g.95103391G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1338Val	RCV000556120	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103383G>A	ClinVar
DICER1	Q9UPY3	p.Ala1338Val	rs766732310	missense variant	-	NC_000014.9:g.95103383G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1342Cys	RCV000477127	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103372G>A	ClinVar
DICER1	Q9UPY3	p.Arg1342Cys	rs776854466	missense variant	-	NC_000014.9:g.95103372G>A	TOPMed
DICER1	Q9UPY3	p.Arg1342His	rs767166092	missense variant	-	NC_000014.9:g.95103371C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1344Ter	RCV000707071	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103365G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1345Ter	rs1323719137	stop gained	-	NC_000014.9:g.95103361A>T	gnomAD
DICER1	Q9UPY3	p.Met1346Val	RCV000691934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103360T>C	ClinVar
DICER1	Q9UPY3	p.Met1346Ile	rs1387749836	missense variant	-	NC_000014.9:g.95103358C>T	gnomAD
DICER1	Q9UPY3	p.Met1346Val	rs1455097358	missense variant	-	NC_000014.9:g.95103360T>C	TOPMed
DICER1	Q9UPY3	p.Met1346Lys	rs1398853735	missense variant	-	NC_000014.9:g.95103359A>T	gnomAD
DICER1	Q9UPY3	p.Arg1347Lys	rs1165606053	missense variant	-	NC_000014.9:g.95103356C>T	gnomAD
DICER1	Q9UPY3	p.Ser1348Ter	RCV000494261	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103352del	ClinVar
DICER1	Q9UPY3	p.Ser1348Arg	rs1415791238	missense variant	-	NC_000014.9:g.95103352G>T	gnomAD
DICER1	Q9UPY3	p.Ser1348Asn	rs1476191950	missense variant	-	NC_000014.9:g.95103353C>T	gnomAD
DICER1	Q9UPY3	p.Lys1350Thr	RCV000569667	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103347T>G	ClinVar
DICER1	Q9UPY3	p.Lys1350Thr	rs1555369270	missense variant	-	NC_000014.9:g.95103347T>G	-
DICER1	Q9UPY3	p.Cys1354Ser	RCV000530034	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099926A>T	ClinVar
DICER1	Q9UPY3	p.Cys1354Ser	rs749559682	missense variant	-	NC_000014.9:g.95099926A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1358Cys	RCV000575051	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099914G>A	ClinVar
DICER1	Q9UPY3	p.Arg1358His	RCV000469750	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099913C>T	ClinVar
DICER1	Q9UPY3	p.Arg1358Ter	RCV000493217	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099915dup	ClinVar
DICER1	Q9UPY3	p.Arg1358Cys	rs1185001854	missense variant	-	NC_000014.9:g.95099914G>A	gnomAD
DICER1	Q9UPY3	p.Arg1358His	rs780488568	missense variant	-	NC_000014.9:g.95099913C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1361Arg	rs1555368619	missense variant	-	NC_000014.9:g.95099904T>C	-
DICER1	Q9UPY3	p.Lys1361Arg	RCV000654429	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099904T>C	ClinVar
DICER1	Q9UPY3	p.Lys1363Ter	RCV000493819	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099906dup	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	RCV000542831	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099895C>G	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	RCV000569409	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099895C>G	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	rs1467554488	missense variant	-	NC_000014.9:g.95099895C>G	gnomAD
DICER1	Q9UPY3	p.Gly1364Arg	rs1196046363	missense variant	-	NC_000014.9:g.95099896C>T	gnomAD
DICER1	Q9UPY3	p.Leu1365Ile	rs1250570322	missense variant	-	NC_000014.9:g.95099893G>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1365Ile	RCV000557954	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099893G>T	ClinVar
DICER1	Q9UPY3	p.Leu1365Ile	RCV000573313	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099893G>T	ClinVar
DICER1	Q9UPY3	p.Arg1368His	RCV000654419	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099883C>T	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	RCV000230621	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099884G>A	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	RCV000574570	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099884G>A	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	rs752740048	missense variant	-	NC_000014.9:g.95099884G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1368Leu	rs767112987	missense variant	-	NC_000014.9:g.95099883C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1368His	rs767112987	missense variant	-	NC_000014.9:g.95099883C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1371Met	rs1276560984	missense variant	-	NC_000014.9:g.95099875C>T	TOPMed
DICER1	Q9UPY3	p.Pro1377Ter	RCV000464109	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099860del	ClinVar
DICER1	Q9UPY3	p.Pro1377Ter	RCV000494426	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099860del	ClinVar
DICER1	Q9UPY3	p.Pro1377Ala	rs888888762	missense variant	-	NC_000014.9:g.95099857G>C	TOPMed
DICER1	Q9UPY3	p.Asn1379Tyr	rs1555368579	missense variant	-	NC_000014.9:g.95099851T>A	-
DICER1	Q9UPY3	p.Asn1379Tyr	RCV000654410	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099851T>A	ClinVar
DICER1	Q9UPY3	p.Trp1380Ter	RCV000851415	nonsense	-	NC_000014.9:g.95099846C>T	ClinVar
DICER1	Q9UPY3	p.Trp1380Ter	rs1131691205	stop gained	-	NC_000014.9:g.95099846C>T	-
DICER1	Q9UPY3	p.Pro1382Ser	RCV000701333	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099842G>A	ClinVar
DICER1	Q9UPY3	p.Gly1384Val	RCV000469100	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099835C>A	ClinVar
DICER1	Q9UPY3	p.Gly1384Val	rs1060503664	missense variant	-	NC_000014.9:g.95099835C>A	gnomAD
DICER1	Q9UPY3	p.Gly1384Ala	rs1060503664	missense variant	-	NC_000014.9:g.95099835C>G	gnomAD
DICER1	Q9UPY3	p.Val1386Ile	rs1199615826	missense variant	-	NC_000014.9:g.95099830C>T	TOPMed
DICER1	Q9UPY3	p.Asn1388Asp	rs1555368569	missense variant	-	NC_000014.9:g.95099824T>C	-
DICER1	Q9UPY3	p.Asn1388Asp	RCV000562141	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099824T>C	ClinVar
DICER1	Q9UPY3	p.Ser1392Asn	RCV000654461	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099811C>T	ClinVar
DICER1	Q9UPY3	p.Ser1392Arg	rs1425420979	missense variant	-	NC_000014.9:g.95099810G>C	TOPMed
DICER1	Q9UPY3	p.Ser1392Asn	rs751216539	missense variant	-	NC_000014.9:g.95099811C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1392Thr	rs751216539	missense variant	-	NC_000014.9:g.95099811C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1394Ala	rs763583825	missense variant	-	NC_000014.9:g.95099806T>C	ExAC,TOPMed
DICER1	Q9UPY3	p.Trp1397Arg	RCV000486377	missense variant	-	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000575344	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Ter	RCV000493645	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099796C>T	ClinVar
DICER1	Q9UPY3	p.Trp1397Ter	RCV000240865	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099796C>T	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000227035	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Ter	rs886037711	stop gained	-	NC_000014.9:g.95099796C>T	-
DICER1	Q9UPY3	p.Trp1397Arg	rs762677393	missense variant	-	NC_000014.9:g.95099797A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1400Gly	RCV000464861	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099787T>C	ClinVar
DICER1	Q9UPY3	p.Asp1400Glu	RCV000654394	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099786A>T	ClinVar
DICER1	Q9UPY3	p.Asp1400Gly	rs139536688	missense variant	-	NC_000014.9:g.95099787T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1400Glu	rs941973586	missense variant	-	NC_000014.9:g.95099786A>T	gnomAD
DICER1	Q9UPY3	p.Asp1400Gly	RCV000851469	missense variant	-	NC_000014.9:g.95099787T>C	ClinVar
DICER1	Q9UPY3	p.Glu1401Lys	RCV000703015	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099785C>T	ClinVar
DICER1	Q9UPY3	p.Met1402Ile	RCV000539126	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099780C>T	ClinVar
DICER1	Q9UPY3	p.Met1402Ile	rs866519895	missense variant	-	NC_000014.9:g.95099780C>T	gnomAD
DICER1	Q9UPY3	p.Met1402Val	rs1356366359	missense variant	-	NC_000014.9:g.95099782T>C	gnomAD
DICER1	Q9UPY3	p.Met1402Ile	rs866519895	missense variant	-	NC_000014.9:g.95099780C>A	gnomAD
DICER1	Q9UPY3	p.Thr1403Ser	rs147391538	missense variant	-	NC_000014.9:g.95096713T>A	ESP,ExAC,TOPMed
DICER1	Q9UPY3	p.Asp1405Glu	RCV000800950	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096705G>C	ClinVar
DICER1	Q9UPY3	p.Asp1405Ter	RCV000654428	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096711del	ClinVar
DICER1	Q9UPY3	p.Asp1405Glu	rs1555367924	missense variant	-	NC_000014.9:g.95096705G>C	-
DICER1	Q9UPY3	p.Asp1405Glu	RCV000574723	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096705G>C	ClinVar
DICER1	Q9UPY3	p.Cys1406Phe	rs1295287147	missense variant	-	NC_000014.9:g.95096703C>A	gnomAD
DICER1	Q9UPY3	p.Cys1406Phe	RCV000574324	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096703C>A	ClinVar
DICER1	Q9UPY3	p.Cys1406Arg	rs1356179383	missense variant	-	NC_000014.9:g.95096704A>G	gnomAD
DICER1	Q9UPY3	p.Met1407Arg	RCV000541658	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096700A>C	ClinVar
DICER1	Q9UPY3	p.Met1407Arg	RCV000561317	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096700A>C	ClinVar
DICER1	Q9UPY3	p.Met1407Ile	RCV000462665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096699C>A	ClinVar
DICER1	Q9UPY3	p.Met1407Leu	rs759394379	missense variant	-	NC_000014.9:g.95096701T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1407Val	rs759394379	missense variant	-	NC_000014.9:g.95096701T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1407Ile	rs1060503589	missense variant	-	NC_000014.9:g.95096699C>A	-
DICER1	Q9UPY3	p.Met1407Arg	rs1555367920	missense variant	-	NC_000014.9:g.95096700A>C	-
DICER1	Q9UPY3	p.Ala1409Thr	rs1004274014	missense variant	-	NC_000014.9:g.95096695C>T	TOPMed
DICER1	Q9UPY3	p.Ala1409Glu	rs776416084	missense variant	-	NC_000014.9:g.95096694G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1409Gly	rs776416084	missense variant	-	NC_000014.9:g.95096694G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1409Val	rs776416084	missense variant	-	NC_000014.9:g.95096694G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1415Gly	rs1343899610	missense variant	-	NC_000014.9:g.95096676T>C	gnomAD
DICER1	Q9UPY3	p.Tyr1417Phe	rs768820364	missense variant	-	NC_000014.9:g.95096670T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1418Lys	rs1421729263	missense variant	-	NC_000014.9:g.95096668C>T	gnomAD
DICER1	Q9UPY3	p.Glu1419Gln	rs775839852	missense variant	-	NC_000014.9:g.95096665C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1419Val	rs770273518	missense variant	-	NC_000014.9:g.95096664T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1419Asp	rs1486741089	missense variant	-	NC_000014.9:g.95096663C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1421Glu	RCV000567188	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096657A>C	ClinVar
DICER1	Q9UPY3	p.Asp1421Glu	rs1219156713	missense variant	-	NC_000014.9:g.95096657A>C	TOPMed
DICER1	Q9UPY3	p.Glu1422Ter	RCV000493195	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096656dup	ClinVar
DICER1	Q9UPY3	p.Glu1422Asp	rs746164022	missense variant	-	NC_000014.9:g.95096654C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1422Asp	RCV000555614	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096654C>A	ClinVar
DICER1	Q9UPY3	p.Glu1422Asp	rs746164022	missense variant	-	NC_000014.9:g.95096654C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1426Asn	RCV000462711	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096643C>T	ClinVar
DICER1	Q9UPY3	p.Ser1426Asn	rs1060503648	missense variant	-	NC_000014.9:g.95096643C>T	gnomAD
DICER1	Q9UPY3	p.Met1428Lys	RCV000562615	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096637A>T	ClinVar
DICER1	Q9UPY3	p.Met1428Lys	RCV000459122	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096637A>T	ClinVar
DICER1	Q9UPY3	p.Met1428Lys	rs996633792	missense variant	-	NC_000014.9:g.95096637A>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Trp1429Ter	RCV000492934	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096635del	ClinVar
DICER1	Q9UPY3	p.Arg1430Gly	RCV000545818	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096632T>C	ClinVar
DICER1	Q9UPY3	p.Arg1430Gly	rs771513798	missense variant	-	NC_000014.9:g.95096632T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1431Pro	rs1256249012	missense variant	-	NC_000014.9:g.95096629C>G	TOPMed
DICER1	Q9UPY3	p.Pro1432Ala	RCV000566953	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096626G>C	ClinVar
DICER1	Q9UPY3	p.Pro1432Leu	RCV000560637	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096625G>A	ClinVar
DICER1	Q9UPY3	p.Pro1432Leu	rs747593690	missense variant	-	NC_000014.9:g.95096625G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1432Ala	rs1555367862	missense variant	-	NC_000014.9:g.95096626G>C	-
DICER1	Q9UPY3	p.Glu1435Asp	RCV000698151	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096615C>A	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	RCV000563455	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096613G>T	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	RCV000476530	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096613G>T	ClinVar
DICER1	Q9UPY3	p.Ala1436Ser	rs1360320875	missense variant	-	NC_000014.9:g.95096614C>A	gnomAD
DICER1	Q9UPY3	p.Ala1436Asp	rs777127946	missense variant	-	NC_000014.9:g.95096613G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1437Ter	RCV000240895	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Asp1437Ter	RCV000851471	frameshift	-	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Asp1437Ter	RCV000493485	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Tyr1438Asn	RCV000228106	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096608A>T	ClinVar
DICER1	Q9UPY3	p.Tyr1438Asn	rs878855264	missense variant	-	NC_000014.9:g.95096608A>T	-
DICER1	Q9UPY3	p.Tyr1438Cys	rs1202589148	missense variant	-	NC_000014.9:g.95096607T>C	TOPMed
DICER1	Q9UPY3	p.Glu1439Asp	rs1394532756	missense variant	-	NC_000014.9:g.95096603T>G	gnomAD
DICER1	Q9UPY3	p.Asp1441Tyr	rs752291344	missense variant	-	NC_000014.9:g.95096599C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1444Lys	rs1455952908	missense variant	-	NC_000014.9:g.95096590C>T	gnomAD
DICER1	Q9UPY3	p.Glu1444Asp	rs1367487931	missense variant	-	NC_000014.9:g.95096588C>G	gnomAD
DICER1	Q9UPY3	p.Asp1446Asn	rs899635943	missense variant	-	NC_000014.9:g.95096584C>T	TOPMed
DICER1	Q9UPY3	p.Ile1450Leu	rs1430019327	missense variant	-	NC_000014.9:g.95096572T>G	gnomAD
DICER1	Q9UPY3	p.Ile1453Val	rs1040361162	missense variant	-	NC_000014.9:g.95096563T>C	gnomAD
DICER1	Q9UPY3	p.Asn1455Thr	RCV000231875	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096556T>G	ClinVar
DICER1	Q9UPY3	p.Asn1455Asp	RCV000687068	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096557T>C	ClinVar
DICER1	Q9UPY3	p.Asn1455Thr	rs878855265	missense variant	-	NC_000014.9:g.95096556T>G	-
DICER1	Q9UPY3	p.Met1456Ile	rs1187851945	missense variant	-	NC_000014.9:g.95096552C>T	gnomAD
DICER1	Q9UPY3	p.Met1458Ile	rs1488281692	missense variant	-	NC_000014.9:g.95096546C>A	TOPMed
DICER1	Q9UPY3	p.Gly1459Glu	RCV000654407	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096544C>T	ClinVar
DICER1	Q9UPY3	p.Gly1459Glu	rs1043584252	missense variant	-	NC_000014.9:g.95096544C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1462Val	RCV000654437	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096535G>A	ClinVar
DICER1	Q9UPY3	p.Ala1462Val	rs1555367829	missense variant	-	NC_000014.9:g.95096535G>A	-
DICER1	Q9UPY3	p.Val1464Leu	RCV000700566	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096530C>A	ClinVar
DICER1	Q9UPY3	p.Val1464Ile	rs1208091143	missense variant	-	NC_000014.9:g.95096530C>T	gnomAD
DICER1	Q9UPY3	p.Ser1468Cys	RCV000694811	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096517G>C	ClinVar
DICER1	Q9UPY3	p.Ser1468Cys	RCV000561994	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096517G>C	ClinVar
DICER1	Q9UPY3	p.Ser1468Phe	rs753582860	missense variant	-	NC_000014.9:g.95096517G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1468Cys	rs753582860	missense variant	-	NC_000014.9:g.95096517G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1469Pro	RCV000544557	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096514A>G	ClinVar
DICER1	Q9UPY3	p.Leu1469Pro	RCV000561747	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096514A>G	ClinVar
DICER1	Q9UPY3	p.Leu1469Ile	RCV000476492	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515G>T	ClinVar
DICER1	Q9UPY3	p.Leu1469Ter	RCV000478954	frameshift	-	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
DICER1	Q9UPY3	p.Leu1469Ter	RCV000654427	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
DICER1	Q9UPY3	p.Leu1469Pro	rs200890670	missense variant	-	NC_000014.9:g.95096514A>G	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1469Ile	rs766194200	missense variant	-	NC_000014.9:g.95096515G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1470Ter	RCV000240868	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Ser1470Ter	RCV000494649	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Ser1470Ter	RCV000211112	frameshift	Pineoblastoma	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	RCV000561516	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096508G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	RCV000468028	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096508G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Ser	RCV000654406	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096509G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Ter	RCV000240930	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.del1471del	RCV000240930	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Pro1471Ter	RCV000492956	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.del1471del	RCV000492956	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	rs1060503657	missense variant	-	NC_000014.9:g.95096508G>A	-
DICER1	Q9UPY3	p.Pro1471Ser	rs764066711	missense variant	-	NC_000014.9:g.95096509G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Phe1472Leu	rs763155602	missense variant	-	NC_000014.9:g.95096506A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1472Val	rs763155602	missense variant	-	NC_000014.9:g.95096506A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1475Ala	rs150883389	missense variant	-	NC_000014.9:g.95096497T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1475Ala	RCV000538120	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096497T>C	ClinVar
DICER1	Q9UPY3	p.Asp1476Ter	RCV000240907	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096493_95096494insA	ClinVar
DICER1	Q9UPY3	p.Asp1476Tyr	rs759857552	missense variant	-	NC_000014.9:g.95096494C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1477Phe	rs1463264407	missense variant	-	NC_000014.9:g.95096490G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1477Phe	RCV000548183	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096490G>A	ClinVar
DICER1	Q9UPY3	p.Ala1478Val	rs771378631	missense variant	-	NC_000014.9:g.95096487G>A	ExAC
DICER1	Q9UPY3	p.Tyr1479Cys	RCV000558444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096484T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1479Cys	rs1218181729	missense variant	-	NC_000014.9:g.95096484T>C	TOPMed
DICER1	Q9UPY3	p.Trp1481Arg	rs778414751	missense variant	-	NC_000014.9:g.95096479A>G	ExAC
DICER1	Q9UPY3	p.Met1483Ile	RCV000765193	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096471C>T	ClinVar
DICER1	Q9UPY3	p.Met1483Ile	RCV000699832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096471C>T	ClinVar
DICER1	Q9UPY3	p.Met1483Ile	rs1454569806	missense variant	-	NC_000014.9:g.95096471C>T	gnomAD
DICER1	Q9UPY3	p.Pro1484Thr	rs1184743227	missense variant	-	NC_000014.9:g.95096470G>T	gnomAD
DICER1	Q9UPY3	p.Lys1485Gln	rs772462662	missense variant	-	NC_000014.9:g.95096467T>G	ExAC
DICER1	Q9UPY3	p.Ser1487Ter	RCV000657269	frameshift	-	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1487Ter	RCV000493389	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1487Ter	RCV000811512	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1491Ile	RCV000229691	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096448C>A	ClinVar
DICER1	Q9UPY3	p.Ser1491Ile	rs878855267	missense variant	-	NC_000014.9:g.95096448C>A	-
DICER1	Q9UPY3	p.Met1492Thr	RCV000765192	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000561694	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000654444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Val	rs756830706	missense variant	-	NC_000014.9:g.95096446T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1492Ile	rs1186397655	missense variant	-	NC_000014.9:g.95096444C>T	gnomAD
DICER1	Q9UPY3	p.Met1492Val	RCV000562003	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096446T>C	ClinVar
DICER1	Q9UPY3	p.Met1492Val	RCV000536096	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096446T>C	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	rs370947079	missense variant	-	NC_000014.9:g.95096445A>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1495Leu	rs753527258	missense variant	-	NC_000014.9:g.95096436G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1495Leu	RCV000550982	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096436G>A	ClinVar
DICER1	Q9UPY3	p.Ser1495Pro	rs767679076	missense variant	-	NC_000014.9:g.95096437A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1497Asn	RCV000566167	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096431C>T	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	RCV000232473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096431C>T	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	rs878855268	missense variant	-	NC_000014.9:g.95096431C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1498Leu	rs779801642	missense variant	-	NC_000014.9:g.95096426A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1499Gln	rs1350503269	missense variant	-	NC_000014.9:g.95096425C>G	gnomAD
DICER1	Q9UPY3	p.Asp1502Asn	RCV000808428	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096416C>T	ClinVar
DICER1	Q9UPY3	p.Asp1502Asn	rs1273522896	missense variant	-	NC_000014.9:g.95096416C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1502Asn	RCV000570957	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096416C>T	ClinVar
DICER1	Q9UPY3	p.Ser1504Ter	RCV000240947	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
DICER1	Q9UPY3	p.del1504del	RCV000240947	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
DICER1	Q9UPY3	p.Ser1505Pro	rs1329994791	missense variant	-	NC_000014.9:g.95096407A>G	gnomAD
DICER1	Q9UPY3	p.Trp1506Ter	RCV000240870	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096403C>T	ClinVar
DICER1	Q9UPY3	p.Trp1506Ter	RCV000493299	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096403C>T	ClinVar
DICER1	Q9UPY3	p.Trp1506Ter	rs886037716	stop gained	-	NC_000014.9:g.95096403C>T	TOPMed
DICER1	Q9UPY3	p.Tyr1511Ter	RCV000494424	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096387A>T	ClinVar
DICER1	Q9UPY3	p.Tyr1511Ter	rs1131691206	stop gained	-	NC_000014.9:g.95096387A>T	gnomAD
DICER1	Q9UPY3	p.Asp1513Tyr	rs1316786303	missense variant	-	NC_000014.9:g.95096383C>A	gnomAD
DICER1	Q9UPY3	p.Ser1515Asn	rs761666375	missense variant	-	NC_000014.9:g.95096376C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1519Val	RCV000457105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096364T>A	ClinVar
DICER1	Q9UPY3	p.Glu1519Ter	RCV000493125	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096365del	ClinVar
DICER1	Q9UPY3	p.Glu1519Val	rs1060503622	missense variant	-	NC_000014.9:g.95096364T>A	-
DICER1	Q9UPY3	p.Glu1520Gln	rs1170730150	missense variant	-	NC_000014.9:g.95096362C>G	gnomAD
DICER1	Q9UPY3	p.Asp1521Gly	rs1434924094	missense variant	-	NC_000014.9:g.95096358T>C	TOPMed
DICER1	Q9UPY3	p.Asp1522Glu	rs1364431792	missense variant	-	NC_000014.9:g.95096354G>C	gnomAD
DICER1	Q9UPY3	p.Glu1533Asp	rs777054659	missense variant	-	NC_000014.9:g.95096321T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys1535Ter	RCV000851419	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000851419	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Ter	RCV000240909	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000240909	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Ter	RCV000494288	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000494288	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Tyr	rs1211879881	missense variant	-	NC_000014.9:g.95096316C>T	gnomAD
DICER1	Q9UPY3	p.Gly1536Asp	rs1486849070	missense variant	-	NC_000014.9:g.95096313C>T	gnomAD
DICER1	Q9UPY3	p.Val1537Ile	rs766652674	missense variant	-	NC_000014.9:g.95096311C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1538Glu	rs761038319	missense variant	-	NC_000014.9:g.95096306G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1539Met	RCV000232937	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>A	ClinVar
DICER1	Q9UPY3	p.Thr1539Lys	RCV000471006	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>T	ClinVar
DICER1	Q9UPY3	p.Thr1539Met	RCV000494503	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096304G>A	ClinVar
DICER1	Q9UPY3	p.Thr1539Lys	rs747901058	missense variant	-	NC_000014.9:g.95096304G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1539Met	rs747901058	missense variant	-	NC_000014.9:g.95096304G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1541Ter	RCV000240950	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.del1541del	RCV000240950	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.del1541del	RCV000493604	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.Lys1541Ter	RCV000493604	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.Lys1541Ter	rs886037718	stop gained	-	NC_000014.9:g.95096299T>A	-
DICER1	Q9UPY3	p.Gln1542Ter	RCV000240874	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096294del	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	rs1555367720	missense variant	-	NC_000014.9:g.95096290T>C	-
DICER1	Q9UPY3	p.Ile1544Asn	rs541733582	missense variant	-	NC_000014.9:g.95096289A>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1544Val	RCV000569957	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096290T>C	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	RCV000823820	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096290T>C	ClinVar
DICER1	Q9UPY3	p.Ser1545Ter	RCV000851420	frameshift	-	NC_000014.9:g.95096289dup	ClinVar
DICER1	Q9UPY3	p.Ser1545Ter	RCV000211108	frameshift	Pineoblastoma	NC_000014.9:g.95096289dup	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	RCV000494101	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096283dup	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	RCV000539434	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096282G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	rs1131691221	stop gained	-	NC_000014.9:g.95096283dup	-
DICER1	Q9UPY3	p.Tyr1546Ter	rs773822569	stop gained	-	NC_000014.9:g.95096282G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1548Phe	RCV000476197	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096276C>G	ClinVar
DICER1	Q9UPY3	p.Leu1548Phe	rs1060503619	missense variant	-	NC_000014.9:g.95096276C>G	-
DICER1	Q9UPY3	p.Thr1550Ser	rs1435663556	missense variant	-	NC_000014.9:g.95096271G>C	TOPMed
DICER1	Q9UPY3	p.Gln1552Ter	RCV000851421	nonsense	-	NC_000014.9:g.95096266G>A	ClinVar
DICER1	Q9UPY3	p.Gln1552Ter	rs1131691208	stop gained	-	NC_000014.9:g.95096266G>A	-
DICER1	Q9UPY3	p.Cys1553Ter	RCV000494085	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096263dup	ClinVar
DICER1	Q9UPY3	p.Ser1558Thr	rs779823153	missense variant	-	NC_000014.9:g.95096247C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1559Val	rs377409989	missense variant	-	NC_000014.9:g.95096245T>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ile1559Arg	rs1555367694	missense variant	-	NC_000014.9:g.95096244A>C	-
DICER1	Q9UPY3	p.Ile1559Met	rs755726950	missense variant	-	NC_000014.9:g.95096243T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1559Arg	RCV000570672	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096244A>C	ClinVar
DICER1	Q9UPY3	p.Tyr1570Cys	rs765396989	missense variant	-	NC_000014.9:g.95096211T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1570Phe	rs765396989	missense variant	-	NC_000014.9:g.95096211T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1570Cys	RCV000233254	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096211T>C	ClinVar
DICER1	Q9UPY3	p.Ser1573Thr	RCV000553405	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096202C>G	ClinVar
DICER1	Q9UPY3	p.Ser1573Thr	rs1555367674	missense variant	-	NC_000014.9:g.95096202C>G	-
DICER1	Q9UPY3	p.Cys1574Ser	rs1236067722	missense variant	-	NC_000014.9:g.95096199C>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1575Arg	RCV000461106	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096197C>G	ClinVar
DICER1	Q9UPY3	p.Gly1575Arg	rs1060503609	missense variant	-	NC_000014.9:g.95096197C>G	-
DICER1	Q9UPY3	p.Glu1576Asp	rs753976236	missense variant	-	NC_000014.9:g.95096192C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1577Lys	rs1447972626	missense variant	-	NC_000014.9:g.95096190C>T	gnomAD
DICER1	Q9UPY3	p.Ala1578Thr	rs760830088	missense variant	-	NC_000014.9:g.95096188C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1579Val	rs1466171960	missense variant	-	NC_000014.9:g.95096184G>A	gnomAD
DICER1	Q9UPY3	p.Gln1580His	RCV000574285	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096180C>A	ClinVar
DICER1	Q9UPY3	p.Gln1580His	RCV000468344	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096180C>A	ClinVar
DICER1	Q9UPY3	p.Gln1580His	rs369465519	missense variant	-	NC_000014.9:g.95096180C>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1583Arg	RCV000240912	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096172A>C	ClinVar
DICER1	Q9UPY3	p.Leu1583Arg	RCV000004725	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	ClinVar
DICER1	Q9UPY3	p.Leu1583Arg	rs137852976	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt,dbSNP
DICER1	Q9UPY3	p.Leu1583Arg	VAR_063150	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt
DICER1	Q9UPY3	p.Leu1583Arg	rs137852976	missense variant	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95096172A>C	-
DICER1	Q9UPY3	p.Ser1585Ter	RCV000240939	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096166G>C	ClinVar
DICER1	Q9UPY3	p.Ser1585Ter	RCV000211120	nonsense	Pineoblastoma	NC_000014.9:g.95096166G>C	ClinVar
DICER1	Q9UPY3	p.Ser1585Ter	rs875989779	stop gained	-	NC_000014.9:g.95096166G>C	-
DICER1	Q9UPY3	p.Gly1587Ter	RCV000691984	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096158del	ClinVar
DICER1	Q9UPY3	p.Gly1587Glu	rs1237854658	missense variant	-	NC_000014.9:g.95096160C>T	TOPMed
DICER1	Q9UPY3	p.Gly1587Val	rs1237854658	missense variant	-	NC_000014.9:g.95096160C>A	TOPMed
DICER1	Q9UPY3	p.Lys1589Met	rs768146959	missense variant	-	NC_000014.9:g.95096154T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1591Phe	rs1446931608	missense variant	-	NC_000014.9:g.95096149G>A	gnomAD
DICER1	Q9UPY3	p.Val1593Leu	RCV000472687	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096143C>G	ClinVar
DICER1	Q9UPY3	p.Val1593Leu	rs1060503644	missense variant	-	NC_000014.9:g.95096143C>G	gnomAD
DICER1	Q9UPY3	p.Thr1597Asn	rs1387955483	missense variant	-	NC_000014.9:g.95096130G>T	gnomAD
DICER1	Q9UPY3	p.Asp1598Asn	rs757177980	missense variant	-	NC_000014.9:g.95096128C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1599Trp	RCV000809626	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>A	ClinVar
DICER1	Q9UPY3	p.Arg1599Gly	RCV000532384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>C	ClinVar
DICER1	Q9UPY3	p.Arg1599Gly	RCV000562129	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096125G>C	ClinVar
DICER1	Q9UPY3	p.Arg1599Gln	RCV000457830	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>T	ClinVar
DICER1	Q9UPY3	p.Arg1599Leu	RCV000547257	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>A	ClinVar
DICER1	Q9UPY3	p.Arg1599Trp	rs587778230	missense variant	-	NC_000014.9:g.95096125G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Gly	rs587778230	missense variant	-	NC_000014.9:g.95096125G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Gln	rs569615549	missense variant	-	NC_000014.9:g.95096124C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Leu	rs569615549	missense variant	-	NC_000014.9:g.95096124C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1601Met	rs181018393	missense variant	-	NC_000014.9:g.95096118T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1601Met	RCV000401929	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096118T>A	ClinVar
DICER1	Q9UPY3	p.Ala1602Gly	RCV000569711	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096115G>C	ClinVar
DICER1	Q9UPY3	p.Ala1602Thr	rs145669719	missense variant	-	NC_000014.9:g.95096116C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1602Thr	RCV000457948	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096116C>T	ClinVar
DICER1	Q9UPY3	p.Ala1602Thr	RCV000561152	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096116C>T	ClinVar
DICER1	Q9UPY3	p.Ala1602Gly	RCV000654386	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096115G>C	ClinVar
DICER1	Q9UPY3	p.Ala1602Gly	rs148955573	missense variant	-	NC_000014.9:g.95096115G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1603Pro	rs1464874776	missense variant	-	NC_000014.9:g.95096112A>G	gnomAD
DICER1	Q9UPY3	p.Cys1604Ter	RCV000492888	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096108G>T	ClinVar
DICER1	Q9UPY3	p.Cys1604Ter	rs1131691201	stop gained	-	NC_000014.9:g.95096108G>T	-
DICER1	Q9UPY3	p.Cys1604Phe	rs1254200271	missense variant	-	NC_000014.9:g.95096109C>A	gnomAD
DICER1	Q9UPY3	p.Pro1605Arg	rs939314926	missense variant	-	NC_000014.9:g.95096106G>C	TOPMed
DICER1	Q9UPY3	p.Thr1606Ala	rs767907056	missense variant	-	NC_000014.9:g.95096104T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1607Gln	RCV000570497	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096100C>T	ClinVar
DICER1	Q9UPY3	p.Arg1607Gln	RCV000465086	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096100C>T	ClinVar
DICER1	Q9UPY3	p.Arg1607Trp	RCV000335071	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096101G>A	ClinVar
DICER1	Q9UPY3	p.Arg1607Gln	rs368963384	missense variant	-	NC_000014.9:g.95096100C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1607Trp	rs189119295	missense variant	-	NC_000014.9:g.95096101G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1609Ser	RCV000552752	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096094T>C	ClinVar
DICER1	Q9UPY3	p.Asn1609Ser	rs1228069910	missense variant	-	NC_000014.9:g.95096094T>C	TOPMed
DICER1	Q9UPY3	p.Phe1610Leu	rs1314094025	missense variant	-	NC_000014.9:g.95096090G>C	TOPMed
DICER1	Q9UPY3	p.Asn1611Ser	rs763472931	missense variant	-	NC_000014.9:g.95096088T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1611Thr	rs763472931	missense variant	-	NC_000014.9:g.95096088T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1613Leu	rs775024028	missense variant	-	NC_000014.9:g.95096082T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1613Leu	RCV000575624	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096082T>A	ClinVar
DICER1	Q9UPY3	p.Gln1613Arg	rs775024028	missense variant	-	NC_000014.9:g.95096082T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1614Arg	RCV000531188	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096079T>C	ClinVar
DICER1	Q9UPY3	p.Gln1614Leu	rs769225805	missense variant	-	NC_000014.9:g.95096079T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1614Arg	rs769225805	missense variant	-	NC_000014.9:g.95096079T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1616Ser	RCV000545218	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096073T>C	ClinVar
DICER1	Q9UPY3	p.Asn1616Ser	rs1257498722	missense variant	-	NC_000014.9:g.95096073T>C	TOPMed
DICER1	Q9UPY3	p.Leu1617Pro	RCV000560028	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096070A>G	ClinVar
DICER1	Q9UPY3	p.Leu1617Pro	rs1555367614	missense variant	-	NC_000014.9:g.95096070A>G	-
DICER1	Q9UPY3	p.Ser1618Ter	RCV000494069	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096067G>T	ClinVar
DICER1	Q9UPY3	p.Ser1618Leu	RCV000230338	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096067G>A	ClinVar
DICER1	Q9UPY3	p.Ser1618Ter	rs377205344	stop gained	-	NC_000014.9:g.95096067G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1618Leu	rs377205344	missense variant	-	NC_000014.9:g.95096067G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1619Met	rs1438625170	missense variant	-	NC_000014.9:g.95096065C>T	gnomAD
DICER1	Q9UPY3	p.Ser1620Asn	RCV000533667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096061C>T	ClinVar
DICER1	Q9UPY3	p.Ser1620Asn	rs1555367601	missense variant	-	NC_000014.9:g.95096061C>T	-
DICER1	Q9UPY3	p.Ala1624Pro	rs372967646	missense variant	-	NC_000014.9:g.95096050C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1624Pro	RCV000696826	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	RCV000566395	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Val	RCV000563354	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096049G>A	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	RCV000761082	missense variant	-	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Val	rs1555367596	missense variant	-	NC_000014.9:g.95096049G>A	-
DICER1	Q9UPY3	p.Ala1624Val	RCV000811928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096049G>A	ClinVar
DICER1	Q9UPY3	p.Ser1625Cys	RCV000229012	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>C	ClinVar
DICER1	Q9UPY3	p.Ser1625Phe	RCV000543986	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>A	ClinVar
DICER1	Q9UPY3	p.Ser1625Pro	RCV000471778	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096047A>G	ClinVar
DICER1	Q9UPY3	p.Ser1625Tyr	RCV000205591	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>T	ClinVar
DICER1	Q9UPY3	p.Ser1625Tyr	RCV000565933	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096046G>T	ClinVar
DICER1	Q9UPY3	p.Ser1625Phe	rs864622653	missense variant	-	NC_000014.9:g.95096046G>A	gnomAD
DICER1	Q9UPY3	p.Ser1625Cys	rs864622653	missense variant	-	NC_000014.9:g.95096046G>C	gnomAD
DICER1	Q9UPY3	p.Ser1625Tyr	rs864622653	missense variant	-	NC_000014.9:g.95096046G>T	gnomAD
DICER1	Q9UPY3	p.Ser1625Pro	rs529131866	missense variant	-	NC_000014.9:g.95096047A>G	1000Genomes,ExAC,TOPMed
DICER1	Q9UPY3	p.Val1626Met	RCV000562463	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096044C>T	ClinVar
DICER1	Q9UPY3	p.Val1626Met	rs1555367589	missense variant	-	NC_000014.9:g.95096044C>T	-
DICER1	Q9UPY3	p.Val1626Gly	rs777737447	missense variant	-	NC_000014.9:g.95096043A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1626Ala	rs777737447	missense variant	-	NC_000014.9:g.95096043A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1628Gly	rs748079162	missense variant	-	NC_000014.9:g.95096038T>C	ExAC
DICER1	Q9UPY3	p.Ser1628Ile	rs1392384194	missense variant	-	NC_000014.9:g.95096037C>A	gnomAD
DICER1	Q9UPY3	p.Ser1629Leu	rs1167159136	missense variant	-	NC_000014.9:g.95096034G>A	gnomAD
DICER1	Q9UPY3	p.Arg1630His	RCV000559079	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096031C>T	ClinVar
DICER1	Q9UPY3	p.Arg1630His	RCV000565748	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096031C>T	ClinVar
DICER1	Q9UPY3	p.Arg1630Cys	RCV000467108	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096032G>A	ClinVar
DICER1	Q9UPY3	p.Arg1630Cys	RCV000571126	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096032G>A	ClinVar
DICER1	Q9UPY3	p.Arg1630His	rs368343829	missense variant	-	NC_000014.9:g.95096031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1630Cys	rs549532374	missense variant	-	NC_000014.9:g.95096032G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1630Leu	rs368343829	missense variant	-	NC_000014.9:g.95096031C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1631Ala	RCV000611518	missense variant	-	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	RCV000205231	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	RCV000301109	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	rs145551486	missense variant	-	NC_000014.9:g.95096029A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1631Ala	RCV000567615	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	RCV000568973	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096026A>G	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	RCV000476667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096026A>G	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	rs545392797	missense variant	-	NC_000014.9:g.95096026A>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val1633Ile	RCV000466854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096023C>T	ClinVar
DICER1	Q9UPY3	p.Val1633Ile	rs1060503643	missense variant	-	NC_000014.9:g.95096023C>T	-
DICER1	Q9UPY3	p.Leu1634Ser	rs149723645	missense variant	-	NC_000014.9:g.95096019A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1634Ser	RCV000234713	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096019A>G	ClinVar
DICER1	Q9UPY3	p.Lys1635Asn	RCV000706254	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096015T>G	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	RCV000228543	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	RCV000493303	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Ser1637Trp	rs140875148	missense variant	-	NC_000014.9:g.95096010G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1637Leu	rs140875148	missense variant	-	NC_000014.9:g.95096010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1637Leu	RCV000391880	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Tyr1639Cys	rs1350329738	missense variant	-	NC_000014.9:g.95096004T>C	gnomAD
DICER1	Q9UPY3	p.Gly1640Ter	RCV000494196	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095997_95096000del	ClinVar
DICER1	Q9UPY3	p.Gly1640Ser	rs753190767	missense variant	-	NC_000014.9:g.95096002C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys1641Trp	RCV000120642	missense variant	-	NC_000014.9:g.95095997A>C	ClinVar
DICER1	Q9UPY3	p.Cys1641Gly	RCV000693614	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095999A>C	ClinVar
DICER1	Q9UPY3	p.Cys1641Trp	rs587778231	missense variant	-	NC_000014.9:g.95095997A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1649Val	rs146715213	missense variant	-	NC_000014.9:g.95095975T>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met1649Val	RCV000465635	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095975T>C	ClinVar
DICER1	Q9UPY3	p.Met1649Ile	RCV000537552	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095973C>T	ClinVar
DICER1	Q9UPY3	p.Met1649Ile	rs1274381410	missense variant	-	NC_000014.9:g.95095973C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1650Cys	RCV000575142	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095971A>C	ClinVar
DICER1	Q9UPY3	p.Phe1650Cys	rs760439905	missense variant	-	NC_000014.9:g.95095971A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1650Cys	RCV000547598	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095971A>C	ClinVar
DICER1	Q9UPY3	p.His1652Tyr	rs1372597986	missense variant	-	NC_000014.9:g.95095966G>A	gnomAD
DICER1	Q9UPY3	p.His1652Tyr	RCV000526051	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095966G>A	ClinVar
DICER1	Q9UPY3	p.Pro1653Gln	rs773113605	missense variant	-	NC_000014.9:g.95095962G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1654Ter	RCV000493443	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095960_95095961dup	ClinVar
DICER1	Q9UPY3	p.Asp1654Ter	RCV000240875	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095960_95095961dup	ClinVar
DICER1	Q9UPY3	p.Asp1656Gly	rs1431986661	missense variant	-	NC_000014.9:g.95095953T>C	gnomAD
DICER1	Q9UPY3	p.Asp1656Asn	rs748106400	missense variant	-	NC_000014.9:g.95095954C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1657Thr	RCV000570749	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095950T>G	ClinVar
DICER1	Q9UPY3	p.Lys1657Thr	RCV000706444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095950T>G	ClinVar
DICER1	Q9UPY3	p.Lys1657Ile	rs778780063	missense variant	-	NC_000014.9:g.95095950T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1657Thr	rs778780063	missense variant	-	NC_000014.9:g.95095950T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1658Ala	rs768640549	missense variant	-	NC_000014.9:g.95095948T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1663Ter	RCV000493436	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095937del	ClinVar
DICER1	Q9UPY3	p.Ile1663Met	rs1253443798	missense variant	-	NC_000014.9:g.95095931T>C	gnomAD
DICER1	Q9UPY3	p.Ile1663Val	rs1555367530	missense variant	-	NC_000014.9:g.95095933T>C	-
DICER1	Q9UPY3	p.Ile1663Val	RCV000548128	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095933T>C	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	RCV000466310	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095929G>A	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	RCV000563940	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095929G>A	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	rs988095775	missense variant	-	NC_000014.9:g.95095929G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1665Arg	RCV000654387	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095927C>T	ClinVar
DICER1	Q9UPY3	p.Gly1665Arg	rs1555367528	missense variant	-	NC_000014.9:g.95095927C>T	-
DICER1	Q9UPY3	p.Gly1665Ala	rs1256442548	missense variant	-	NC_000014.9:g.95095926C>G	gnomAD
DICER1	Q9UPY3	p.Glu1667Ter	RCV000654412	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095921C>A	ClinVar
DICER1	Q9UPY3	p.Glu1667Ter	rs1555367522	stop gained	-	NC_000014.9:g.95095921C>A	-
DICER1	Q9UPY3	p.Phe1669Leu	rs1210643393	missense variant	-	NC_000014.9:g.95095913A>C	TOPMed
DICER1	Q9UPY3	p.Lys1671Asn	RCV000654446	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095907C>G	ClinVar
DICER1	Q9UPY3	p.Lys1671Glu	rs1484737767	missense variant	-	NC_000014.9:g.95095909T>C	TOPMed
DICER1	Q9UPY3	p.Lys1671Asn	rs751819396	missense variant	-	NC_000014.9:g.95095907C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1671Asn	rs751819396	missense variant	-	NC_000014.9:g.95095907C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1672Asn	rs1438773814	missense variant	-	NC_000014.9:g.95095904T>A	gnomAD
DICER1	Q9UPY3	p.Lys1672Asn	RCV000526250	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095904T>A	ClinVar
DICER1	Q9UPY3	p.Asn1674Thr	RCV000693348	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095899T>G	ClinVar
DICER1	Q9UPY3	p.Asn1674Asp	RCV000541146	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095900T>C	ClinVar
DICER1	Q9UPY3	p.Asn1674Thr	rs1424203615	missense variant	-	NC_000014.9:g.95095899T>G	TOPMed
DICER1	Q9UPY3	p.Asn1674Asp	rs1555367519	missense variant	-	NC_000014.9:g.95095900T>C	-
DICER1	Q9UPY3	p.Tyr1675His	RCV000556278	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095897A>G	ClinVar
DICER1	Q9UPY3	p.Tyr1675His	rs1555367518	missense variant	-	NC_000014.9:g.95095897A>G	-
DICER1	Q9UPY3	p.Arg1676Thr	RCV000687753	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095893C>G	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	RCV000571843	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095893C>G	ClinVar
DICER1	Q9UPY3	p.Arg1676Ser	RCV000540216	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095892T>A	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	rs375465466	missense variant	-	NC_000014.9:g.95095893C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1676Lys	rs375465466	missense variant	-	NC_000014.9:g.95095893C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1676Ser	rs1555367513	missense variant	-	NC_000014.9:g.95095892T>A	-
DICER1	Q9UPY3	p.Lys1678Asn	rs753111453	missense variant	-	NC_000014.9:g.95095886C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1678Glu	rs758758363	missense variant	-	NC_000014.9:g.95095888T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1679Ser	rs1424077753	missense variant	-	NC_000014.9:g.95095884T>C	TOPMed
DICER1	Q9UPY3	p.Lys1680Glu	RCV000476765	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095882T>C	ClinVar
DICER1	Q9UPY3	p.Lys1680Glu	RCV000566917	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095882T>C	ClinVar
DICER1	Q9UPY3	p.Lys1680Glu	rs1060503639	missense variant	-	NC_000014.9:g.95095882T>C	gnomAD
DICER1	Q9UPY3	p.Lys1680Gln	rs1060503639	missense variant	-	NC_000014.9:g.95095882T>G	gnomAD
DICER1	Q9UPY3	p.Ala1681Ser	RCV000570010	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095879C>A	ClinVar
DICER1	Q9UPY3	p.Ala1681Ser	rs1555367505	missense variant	-	NC_000014.9:g.95095879C>A	-
DICER1	Q9UPY3	p.Gln1685Ter	RCV000240917	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095867G>A	ClinVar
DICER1	Q9UPY3	p.Gln1685Ter	rs886037721	stop gained	-	NC_000014.9:g.95095867G>A	-
DICER1	Q9UPY3	p.Ala1686Val	RCV000555084	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095863G>A	ClinVar
DICER1	Q9UPY3	p.Ala1686Val	rs1555367498	missense variant	-	NC_000014.9:g.95095863G>A	-
DICER1	Q9UPY3	p.Thr1688Lys	RCV000532685	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095857G>T	ClinVar
DICER1	Q9UPY3	p.Thr1688Lys	rs1555367495	missense variant	-	NC_000014.9:g.95095857G>T	-
DICER1	Q9UPY3	p.His1693Asn	RCV000570079	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095843G>T	ClinVar
DICER1	Q9UPY3	p.His1693Arg	rs1359055040	missense variant	-	NC_000014.9:g.95095842T>C	gnomAD
DICER1	Q9UPY3	p.His1693Asn	rs1555367487	missense variant	-	NC_000014.9:g.95095843G>T	-
DICER1	Q9UPY3	p.Thr1696Ser	rs1160478379	missense variant	-	NC_000014.9:g.95095833G>C	gnomAD
DICER1	Q9UPY3	p.Ile1697Val	RCV000553062	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095831T>C	ClinVar
DICER1	Q9UPY3	p.Ile1697Met	rs753251774	missense variant	-	NC_000014.9:g.95095829G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1697Val	rs1457257809	missense variant	-	NC_000014.9:g.95095831T>C	gnomAD
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000851423	nonsense	-	NC_000014.9:g.95094149G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000627364	nonsense	-	NC_000014.9:g.95094149G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000654463	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094149G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	rs875989780	stop gained	-	NC_000014.9:g.95094149G>T	-
DICER1	Q9UPY3	p.Tyr1701Ter	rs875989780	stop gained	-	NC_000014.9:g.95094149G>C	-
DICER1	Q9UPY3	p.Gln1702Ter	RCV000240919	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094148G>A	ClinVar
DICER1	Q9UPY3	p.Gln1702Ter	RCV000494634	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094148G>A	ClinVar
DICER1	Q9UPY3	p.Gln1702Ter	rs886037723	stop gained	-	NC_000014.9:g.95094148G>A	-
DICER1	Q9UPY3	p.Arg1703Cys	RCV000231550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094145G>A	ClinVar
DICER1	Q9UPY3	p.Arg1703Cys	rs878855272	missense variant	-	NC_000014.9:g.95094145G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1705Lys	VAR_067091	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Phe1706Leu	RCV000474549	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094134G>T	ClinVar
DICER1	Q9UPY3	p.Phe1706Leu	rs1060503635	missense variant	-	NC_000014.9:g.95094134G>T	-
DICER1	Q9UPY3	p.Gly1708Glu	RCV000240960	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094129C>T	ClinVar
DICER1	Q9UPY3	p.Gly1708Glu	rs886037724	missense variant	-	NC_000014.9:g.95094129C>T	-
DICER1	Q9UPY3	p.Asp1709Gly	RCV000546662	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094126T>C	ClinVar
DICER1	Q9UPY3	p.Asp1709Gly	rs1555366979	missense variant	-	NC_000014.9:g.95094126T>C	-
DICER1	Q9UPY3	p.Asp1709Gly	rs1555366979	missense variant	-	NC_000014.9:g.95094126T>C	UniProt,dbSNP
DICER1	Q9UPY3	p.Asp1709Gly	VAR_067093	missense variant	-	NC_000014.9:g.95094126T>C	UniProt
DICER1	Q9UPY3	p.Asp1709Asn	VAR_067094	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1709Tyr	VAR_081918	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
DICER1	Q9UPY3	p.Asp1709Glu	VAR_067092	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1713Val	VAR_081919	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
DICER1	Q9UPY3	p.Tyr1714His	rs1433832479	missense variant	-	NC_000014.9:g.95094112A>G	gnomAD
DICER1	Q9UPY3	p.Leu1715Arg	rs1269643869	missense variant	-	NC_000014.9:g.95094108A>C	gnomAD
DICER1	Q9UPY3	p.Lys1718Arg	rs1488309058	missense variant	-	NC_000014.9:g.95094099T>C	gnomAD
DICER1	Q9UPY3	p.Asp1723Glu	rs1555366914	missense variant	-	NC_000014.9:g.95094083G>C	-
DICER1	Q9UPY3	p.Asp1723Glu	RCV000535105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094083G>C	ClinVar
DICER1	Q9UPY3	p.Pro1724Ala	rs1207697357	missense variant	-	NC_000014.9:g.95094082G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro1724Gln	RCV000545467	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094081G>T	ClinVar
DICER1	Q9UPY3	p.Pro1724Arg	rs749900564	missense variant	-	NC_000014.9:g.95094081G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1724Gln	rs749900564	missense variant	-	NC_000014.9:g.95094081G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1725Trp	rs756827508	missense variant	-	NC_000014.9:g.95094079G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1725Gln	rs751273916	missense variant	-	NC_000014.9:g.95094078C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1726Leu	RCV000557161	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094075T>A	ClinVar
DICER1	Q9UPY3	p.Gln1726Leu	rs1555366877	missense variant	-	NC_000014.9:g.95094075T>A	-
DICER1	Q9UPY3	p.His1727Arg	RCV000701569	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094072T>C	ClinVar
DICER1	Q9UPY3	p.His1727Pro	rs1262583273	missense variant	-	NC_000014.9:g.95094072T>G	TOPMed
DICER1	Q9UPY3	p.Ser1728Phe	rs762801582	missense variant	-	NC_000014.9:g.95094069G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1731Leu	RCV000550226	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094061C>G	ClinVar
DICER1	Q9UPY3	p.Val1731Leu	rs1555366846	missense variant	-	NC_000014.9:g.95094061C>G	-
DICER1	Q9UPY3	p.Leu1732Ter	RCV000240897	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
DICER1	Q9UPY3	p.del1732del	RCV000240897	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
DICER1	Q9UPY3	p.Thr1743Ser	rs1196791933	missense variant	-	NC_000014.9:g.95094025T>A	gnomAD
DICER1	Q9UPY3	p.Phe1745Ter	RCV000493704	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094019del	ClinVar
DICER1	Q9UPY3	p.Ala1749Thr	rs1161123623	missense variant	-	NC_000014.9:g.95094007C>T	TOPMed
DICER1	Q9UPY3	p.Val1750Ile	RCV000572213	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094004C>T	ClinVar
DICER1	Q9UPY3	p.Val1750Ile	RCV000534697	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094004C>T	ClinVar
DICER1	Q9UPY3	p.Val1750Ile	rs1184678913	missense variant	-	NC_000014.9:g.95094004C>T	gnomAD
DICER1	Q9UPY3	p.Lys1751Ter	RCV000240933	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
DICER1	Q9UPY3	p.del1751del	RCV000240933	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
DICER1	Q9UPY3	p.Asp1753Glu	RCV000527854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093993G>C	ClinVar
DICER1	Q9UPY3	p.Asp1753Glu	rs1165221864	missense variant	-	NC_000014.9:g.95093993G>C	TOPMed
DICER1	Q9UPY3	p.Asp1753Asn	RCV000549329	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093995C>T	ClinVar
DICER1	Q9UPY3	p.Asp1753Asn	rs1460430963	missense variant	-	NC_000014.9:g.95093995C>T	TOPMed
DICER1	Q9UPY3	p.Lys1756Arg	rs1423918933	missense variant	-	NC_000014.9:g.95093985T>C	gnomAD
DICER1	Q9UPY3	p.Lys1759Arg	RCV000120643	missense variant	-	NC_000014.9:g.95093976T>C	ClinVar
DICER1	Q9UPY3	p.Lys1759Arg	rs144259142	missense variant	-	NC_000014.9:g.95093976T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1761Ile	RCV000654389	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093971C>T	ClinVar
DICER1	Q9UPY3	p.Val1761Ala	rs1555366735	missense variant	-	NC_000014.9:g.95093970A>G	-
DICER1	Q9UPY3	p.Val1761Ile	rs1555366740	missense variant	-	NC_000014.9:g.95093971C>T	-
DICER1	Q9UPY3	p.Val1761Ala	RCV000565847	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093970A>G	ClinVar
DICER1	Q9UPY3	p.Glu1764Ala	RCV000462050	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093961T>G	ClinVar
DICER1	Q9UPY3	p.Glu1764Ala	rs1060503637	missense variant	-	NC_000014.9:g.95093961T>G	-
DICER1	Q9UPY3	p.His1767Gln	RCV000461220	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093951A>C	ClinVar
DICER1	Q9UPY3	p.His1767Ter	RCV000493189	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.del1767del	RCV000493189	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.His1767Ter	RCV000240869	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.del1767del	RCV000240869	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.His1767Gln	rs1060503656	missense variant	-	NC_000014.9:g.95093951A>C	-
DICER1	Q9UPY3	p.His1767Arg	rs1296798488	missense variant	-	NC_000014.9:g.95093952T>C	TOPMed
DICER1	Q9UPY3	p.Phe1772Ter	RCV000657418	frameshift	-	NC_000014.9:g.95093937_95093938del	ClinVar
DICER1	Q9UPY3	p.Phe1772Ter	RCV000229765	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093937_95093938del	ClinVar
DICER1	Q9UPY3	p.Leu1777Phe	RCV000227591	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093923G>A	ClinVar
DICER1	Q9UPY3	p.Leu1777Phe	rs183879938	missense variant	-	NC_000014.9:g.95093923G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1777Val	rs183879938	missense variant	-	NC_000014.9:g.95093923G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1777His	rs780545199	missense variant	-	NC_000014.9:g.95093922A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1779Glu	RCV000525934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093917T>C	ClinVar
DICER1	Q9UPY3	p.Lys1779Glu	rs1555366685	missense variant	-	NC_000014.9:g.95093917T>C	-
DICER1	Q9UPY3	p.Met1782Ile	RCV000540658	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093906C>T	ClinVar
DICER1	Q9UPY3	p.Met1782Ile	rs1555366679	missense variant	-	NC_000014.9:g.95093906C>T	-
DICER1	Q9UPY3	p.Arg1790Lys	RCV000692578	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091361C>T	ClinVar
DICER1	Q9UPY3	p.Ser1792Pro	RCV000470444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091356A>G	ClinVar
DICER1	Q9UPY3	p.Ser1792Cys	RCV000565494	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091355G>C	ClinVar
DICER1	Q9UPY3	p.Ser1792Cys	rs1225830476	missense variant	-	NC_000014.9:g.95091355G>C	TOPMed
DICER1	Q9UPY3	p.Ser1792Pro	rs1060503651	missense variant	-	NC_000014.9:g.95091356A>G	-
DICER1	Q9UPY3	p.Glu1794Asp	rs766285402	missense variant	-	NC_000014.9:g.95091348C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1795Glu	rs1465785637	missense variant	-	NC_000014.9:g.95091345A>T	gnomAD
DICER1	Q9UPY3	p.Glu1799Ter	RCV000240936	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
DICER1	Q9UPY3	p.del1799del	RCV000240936	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
DICER1	Q9UPY3	p.Met1808Val	RCV000554604	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091308T>C	ClinVar
DICER1	Q9UPY3	p.Met1808Leu	rs763241498	missense variant	-	NC_000014.9:g.95091308T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1808Val	rs763241498	missense variant	-	NC_000014.9:g.95091308T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1810Asn	rs775912475	missense variant	-	NC_000014.9:g.95091302C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1810Asn	rs775912475	missense variant	-	NC_000014.9:g.95091302C>T	UniProt,dbSNP
DICER1	Q9UPY3	p.Asp1810Asn	VAR_067096	missense variant	-	NC_000014.9:g.95091302C>T	UniProt
DICER1	Q9UPY3	p.Asp1810Tyr	VAR_067097	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1810His	VAR_067095	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Gly	VAR_067098	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Gln	VAR_067100	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Lys	VAR_067099	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Ser1814Leu	RCV000762934	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95091289G>A	ClinVar
DICER1	Q9UPY3	p.Ser1814Leu	RCV000851480	missense variant	-	NC_000014.9:g.95091289G>A	ClinVar
DICER1	Q9UPY3	p.Ser1814Leu	rs1060503625	missense variant	-	NC_000014.9:g.95091289G>A	-
DICER1	Q9UPY3	p.Leu1815Phe	rs1282259682	missense variant	-	NC_000014.9:g.95091287G>A	gnomAD
DICER1	Q9UPY3	p.Ala1816Val	rs1244996889	missense variant	-	NC_000014.9:g.95091283G>A	gnomAD
DICER1	Q9UPY3	p.Met1821Val	RCV000457347	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>C	ClinVar
DICER1	Q9UPY3	p.Met1821Leu	RCV000458610	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>G	ClinVar
DICER1	Q9UPY3	p.Met1821Lys	rs1412965790	missense variant	-	NC_000014.9:g.95091268A>T	TOPMed
DICER1	Q9UPY3	p.Met1821Val	rs1060503604	missense variant	-	NC_000014.9:g.95091269T>C	gnomAD
DICER1	Q9UPY3	p.Met1821Leu	rs1060503604	missense variant	-	NC_000014.9:g.95091269T>G	gnomAD
DICER1	Q9UPY3	p.Asp1822Gly	RCV000492838	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091265T>C	ClinVar
DICER1	Q9UPY3	p.Asp1822Val	RCV000240872	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091265T>A	ClinVar
DICER1	Q9UPY3	p.Asp1822Val	rs886037729	missense variant	-	NC_000014.9:g.95091265T>A	-
DICER1	Q9UPY3	p.Gly1824Val	RCV000459341	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091259C>A	ClinVar
DICER1	Q9UPY3	p.Gly1824Val	RCV000564741	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091259C>A	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	RCV000563783	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091260C>G	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	RCV000693668	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091260C>G	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	rs752411788	missense variant	-	NC_000014.9:g.95091260C>G	-
DICER1	Q9UPY3	p.Gly1824Val	rs377685186	missense variant	-	NC_000014.9:g.95091259C>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1827Ter	RCV000529758	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091251del	ClinVar
DICER1	Q9UPY3	p.Leu1827Ter	RCV000851481	frameshift	-	NC_000014.9:g.95091251del	ClinVar
DICER1	Q9UPY3	p.Thr1829Ile	RCV000654397	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091244G>A	ClinVar
DICER1	Q9UPY3	p.Thr1829Ile	rs1555366196	missense variant	-	NC_000014.9:g.95091244G>A	-
DICER1	Q9UPY3	p.Gln1832Ter	RCV000474798	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091236G>A	ClinVar
DICER1	Q9UPY3	p.Gln1832Glu	rs1060503583	missense variant	-	NC_000014.9:g.95091236G>C	gnomAD
DICER1	Q9UPY3	p.Gln1832Ter	rs1060503583	stop gained	-	NC_000014.9:g.95091236G>A	gnomAD
DICER1	Q9UPY3	p.Gln1832His	rs1344743618	missense variant	-	NC_000014.9:g.95091234C>G	gnomAD
DICER1	Q9UPY3	p.Gln1832Arg	RCV000700964	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091235T>C	ClinVar
DICER1	Q9UPY3	p.Val1833Gly	rs1324448543	missense variant	-	NC_000014.9:g.95091232A>C	gnomAD
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000569795	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000851482	missense variant	-	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Ser	RCV000570256	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>G	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000460203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835His	rs1407335437	missense variant	-	NC_000014.9:g.95091227A>G	gnomAD
DICER1	Q9UPY3	p.Tyr1835Cys	rs747510783	missense variant	-	NC_000014.9:g.95091226T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1835Ser	rs747510783	missense variant	-	NC_000014.9:g.95091226T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1835Ser	RCV000687902	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>G	ClinVar
DICER1	Q9UPY3	p.Tyr1835Ter	RCV000706258	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091223_95091226del	ClinVar
DICER1	Q9UPY3	p.Pro1836Leu	rs187288681	missense variant	-	NC_000014.9:g.95091223G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1836His	rs187288681	missense variant	-	NC_000014.9:g.95091223G>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met1837Ile	rs747798126	missense variant	-	NC_000014.9:g.95091219C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1838Ile	rs1187244456	missense variant	-	NC_000014.9:g.95091216C>T	gnomAD
DICER1	Q9UPY3	p.Arg1839Gln	RCV000476806	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091214C>T	ClinVar
DICER1	Q9UPY3	p.Arg1839Trp	RCV000698396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091215G>A	ClinVar
DICER1	Q9UPY3	p.Arg1839Gln	RCV000566657	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091214C>T	ClinVar
DICER1	Q9UPY3	p.Arg1839Trp	rs1447120867	missense variant	-	NC_000014.9:g.95091215G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1839Gln	rs587778233	missense variant	-	NC_000014.9:g.95091214C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1839Trp	RCV000572507	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091215G>A	ClinVar
DICER1	Q9UPY3	p.Leu1841Pro	rs754642180	missense variant	-	NC_000014.9:g.95091208A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1842Val	rs749059266	missense variant	-	NC_000014.9:g.95091206T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1842Val	RCV000227985	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091206T>C	ClinVar
DICER1	Q9UPY3	p.Lys1844Asn	rs1360182417	missense variant	-	NC_000014.9:g.95091105C>G	gnomAD
DICER1	Q9UPY3	p.Ala1847Thr	rs1412433775	missense variant	-	NC_000014.9:g.95091098C>T	TOPMed
DICER1	Q9UPY3	p.Asn1848Asp	rs748931250	missense variant	-	NC_000014.9:g.95091095T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1851His	rs1426678586	missense variant	-	NC_000014.9:g.95091085C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1860Ile	rs1228225906	missense variant	-	NC_000014.9:g.95091057C>T	TOPMed
DICER1	Q9UPY3	p.Pro1869Leu	rs1459884777	missense variant	-	NC_000014.9:g.95090661G>A	gnomAD
DICER1	Q9UPY3	p.Pro1869Leu	RCV000654379	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090661G>A	ClinVar
DICER1	Q9UPY3	p.Ala1870Ser	rs1555366012	missense variant	-	NC_000014.9:g.95090659C>A	-
DICER1	Q9UPY3	p.Asp1875Tyr	rs745601023	missense variant	-	NC_000014.9:g.95090644C>A	ExAC
DICER1	Q9UPY3	p.Asp1875Asn	rs745601023	missense variant	-	NC_000014.9:g.95090644C>T	ExAC
DICER1	Q9UPY3	p.Gly1876Arg	rs770962059	missense variant	-	NC_000014.9:g.95090641C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly1876Ala	rs1238684646	missense variant	-	NC_000014.9:g.95090640C>G	gnomAD
DICER1	Q9UPY3	p.Thr1881Ala	rs746992218	missense variant	-	NC_000014.9:g.95090626T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1883Gly	rs1299000813	missense variant	-	NC_000014.9:g.95090619T>C	gnomAD
DICER1	Q9UPY3	p.Glu1883Asp	rs753959216	missense variant	-	NC_000014.9:g.95090618T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly1886Arg	RCV000696981	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090611C>G	ClinVar
DICER1	Q9UPY3	p.Gly1892Ala	rs756385724	missense variant	-	NC_000014.9:g.95090592C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1893Ala	RCV000823022	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090589A>G	ClinVar
DICER1	Q9UPY3	p.Val1893Ala	RCV000575385	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090589A>G	ClinVar
DICER1	Q9UPY3	p.Val1893Ile	RCV000561341	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090590C>T	ClinVar
DICER1	Q9UPY3	p.Val1893Ile	rs1555365992	missense variant	-	NC_000014.9:g.95090590C>T	-
DICER1	Q9UPY3	p.Val1893Ala	rs1555365989	missense variant	-	NC_000014.9:g.95090589A>G	-
DICER1	Q9UPY3	p.Arg1898Gly	VAR_081920	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Arg1910Pro	RCV000556473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090538C>G	ClinVar
DICER1	Q9UPY3	p.Arg1910Pro	rs1555365979	missense variant	-	NC_000014.9:g.95090538C>G	-
DICER1	Q9UPY3	p.Arg1910Ter	rs762281340	stop gained	-	NC_000014.9:g.95090539G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1913Arg	RCV000474828	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	RCV000765190	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	RCV000564664	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	rs752116341	missense variant	-	NC_000014.9:g.95090529T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1913Arg	RCV000389746	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Asn1915Ser	rs1178537434	missense variant	-	NC_000014.9:g.95090523T>C	TOPMed
DICER1	Q9UPY3	p.Gln1916Ter	RCV000654413	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090521G>A	ClinVar
DICER1	Q9UPY3	p.Gln1916Ter	rs1253131536	stop gained	-	NC_000014.9:g.95090521G>A	TOPMed
DICER1	Q9UPY3	p.Pro1917Arg	RCV000564271	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090517G>C	ClinVar
DICER1	Q9UPY3	p.Pro1917Arg	rs1555365972	missense variant	-	NC_000014.9:g.95090517G>C	-
DICER1	Q9UPY3	p.Gln1918Arg	rs1451403510	missense variant	-	NC_000014.9:g.95090514T>C	gnomAD
DICER1	Q9UPY3	p.Gln1918Leu	rs1451403510	missense variant	-	NC_000014.9:g.95090514T>A	gnomAD
DICER1	Q9UPY3	p.Val1919Ile	rs762301997	missense variant	-	NC_000014.9:g.95090512C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1921Ser	RCV000574482	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090505T>C	ClinVar
DICER1	Q9UPY3	p.Asn1921Ser	RCV000538520	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090505T>C	ClinVar
DICER1	Q9UPY3	p.Asn1921His	rs775077210	missense variant	-	NC_000014.9:g.95090506T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1921Ser	rs764747360	missense variant	-	NC_000014.9:g.95090505T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1922Arg	rs912470196	missense variant	-	NC_000014.9:g.95090501G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1922Asn	rs1220636958	missense variant	-	NC_000014.9:g.95090502C>T	gnomAD
DICER1	Q9UPY3	p.Met1Thr	RCV000227003	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133457A>G	ClinVar
DICER1	Q9UPY3	p.Met1Thr	RCV000562389	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133457A>G	ClinVar
DICER1	Q9UPY3	p.Lys2Asn	rs1416298002	missense variant	-	NC_000014.9:g.95133453T>G	gnomAD
DICER1	Q9UPY3	p.Pro4Ser	rs772433602	missense variant	-	NC_000014.9:g.95133449G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu6Phe	rs777350127	missense variant	-	NC_000014.9:g.95133441C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln7Arg	RCV000206043	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133439T>C	ClinVar
DICER1	Q9UPY3	p.Gln7Arg	rs117358479	missense variant	-	NC_000014.9:g.95133439T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro8Ser	rs748788519	missense variant	-	NC_000014.9:g.95133437G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu9Phe	rs1482976224	missense variant	-	NC_000014.9:g.95133434G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu9Phe	RCV000654432	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133434G>A	ClinVar
DICER1	Q9UPY3	p.Gly13Asp	RCV000476538	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133421C>T	ClinVar
DICER1	Q9UPY3	p.Gly13Asp	rs1060503610	missense variant	-	NC_000014.9:g.95133421C>T	-
DICER1	Q9UPY3	p.Leu14Met	rs779753946	missense variant	-	NC_000014.9:g.95133419G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln15Arg	RCV000654403	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133415T>C	ClinVar
DICER1	Q9UPY3	p.Gln15Arg	rs1555376589	missense variant	-	NC_000014.9:g.95133415T>C	-
DICER1	Q9UPY3	p.Met17Leu	RCV000654398	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133410T>G	ClinVar
DICER1	Q9UPY3	p.Met17Leu	rs1555376587	missense variant	-	NC_000014.9:g.95133410T>G	-
DICER1	Q9UPY3	p.Pro19Thr	RCV000468835	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133404G>T	ClinVar
DICER1	Q9UPY3	p.Pro19Leu	RCV000120632	missense variant	-	NC_000014.9:g.95133403G>A	ClinVar
DICER1	Q9UPY3	p.Pro19Thr	rs1060503638	missense variant	-	NC_000014.9:g.95133404G>T	-
DICER1	Q9UPY3	p.Pro19Leu	rs587778227	missense variant	-	NC_000014.9:g.95133403G>A	gnomAD
DICER1	Q9UPY3	p.Ala20Thr	RCV000654440	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133401C>T	ClinVar
DICER1	Q9UPY3	p.Ala20Val	RCV000120633	missense variant	-	NC_000014.9:g.95133400G>A	ClinVar
DICER1	Q9UPY3	p.Ala20Val	rs147660793	missense variant	-	NC_000014.9:g.95133400G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala20Thr	rs1555376579	missense variant	-	NC_000014.9:g.95133401C>T	-
DICER1	Q9UPY3	p.Ser21Phe	rs1289924579	missense variant	-	NC_000014.9:g.95133397G>A	gnomAD
DICER1	Q9UPY3	p.Ser22Leu	RCV000461365	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133394G>A	ClinVar
DICER1	Q9UPY3	p.Ser22Leu	rs1060503626	missense variant	-	NC_000014.9:g.95133394G>A	gnomAD
DICER1	Q9UPY3	p.Pro23Ser	RCV000531961	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133392G>A	ClinVar
DICER1	Q9UPY3	p.Pro23Ser	rs1555376567	missense variant	-	NC_000014.9:g.95133392G>A	-
DICER1	Q9UPY3	p.Met24Val	RCV000226545	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133389T>C	ClinVar
DICER1	Q9UPY3	p.Met24Ile	RCV000804944	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133387C>T	ClinVar
DICER1	Q9UPY3	p.Met24Ile	RCV000572085	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133387C>T	ClinVar
DICER1	Q9UPY3	p.Met24Val	rs754439528	missense variant	-	NC_000014.9:g.95133389T>C	TOPMed
DICER1	Q9UPY3	p.Met24Ile	rs751520020	missense variant	-	NC_000014.9:g.95133387C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Met24Ile	rs751520020	missense variant	-	NC_000014.9:g.95133387C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Met24Thr	rs1349780844	missense variant	-	NC_000014.9:g.95133388A>G	gnomAD
DICER1	Q9UPY3	p.Met24Val	RCV000563130	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133389T>C	ClinVar
DICER1	Q9UPY3	p.Gly25Asp	RCV000561019	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133385C>T	ClinVar
DICER1	Q9UPY3	p.Gly25Asp	rs1555376566	missense variant	-	NC_000014.9:g.95133385C>T	-
DICER1	Q9UPY3	p.Pro26Leu	RCV000565379	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	RCV000537230	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	RCV000761003	missense variant	Medulloblastoma (MDB)	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	rs201358110	missense variant	-	NC_000014.9:g.95133382G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Phe27Leu	RCV000654388	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133378G>C	ClinVar
DICER1	Q9UPY3	p.Phe27Leu	rs1555376563	missense variant	-	NC_000014.9:g.95133378G>C	-
DICER1	Q9UPY3	p.Phe28Cys	rs61729796	missense variant	-	NC_000014.9:g.95133376A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe28Ser	RCV000460921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133376A>G	ClinVar
DICER1	Q9UPY3	p.Phe28Ser	rs61729796	missense variant	-	NC_000014.9:g.95133376A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe28Val	rs1333617601	missense variant	-	NC_000014.9:g.95133377A>C	gnomAD
DICER1	Q9UPY3	p.Gly29Ala	rs766491650	missense variant	-	NC_000014.9:g.95133373C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln33His	rs773456851	missense variant	-	NC_000014.9:g.95133360T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln34Ter	RCV000654373	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133359G>A	ClinVar
DICER1	Q9UPY3	p.Gln34Ter	rs1555376548	stop gained	-	NC_000014.9:g.95133359G>A	-
DICER1	Q9UPY3	p.Ile37Phe	RCV000471095	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133350T>A	ClinVar
DICER1	Q9UPY3	p.Ile37Phe	rs772381832	missense variant	-	NC_000014.9:g.95133350T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp39Gly	rs748564911	missense variant	-	NC_000014.9:g.95133343T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn40Asp	rs1482582825	missense variant	-	NC_000014.9:g.95133341T>C	gnomAD
DICER1	Q9UPY3	p.Thr43Arg	RCV000497812	missense variant	-	NC_000014.9:g.95133331G>C	ClinVar
DICER1	Q9UPY3	p.Thr43Met	RCV000571554	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133331G>A	ClinVar
DICER1	Q9UPY3	p.Thr43Met	RCV000474678	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133331G>A	ClinVar
DICER1	Q9UPY3	p.Thr43Arg	rs367797765	missense variant	-	NC_000014.9:g.95133331G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr43Met	rs367797765	missense variant	-	NC_000014.9:g.95133331G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys46Gln	RCV000699235	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133323T>G	ClinVar
DICER1	Q9UPY3	p.Val49Leu	RCV000563819	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132677C>G	ClinVar
DICER1	Q9UPY3	p.Val49Ala	RCV000456605	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132676A>G	ClinVar
DICER1	Q9UPY3	p.Val49Ala	rs1060503624	missense variant	-	NC_000014.9:g.95132676A>G	-
DICER1	Q9UPY3	p.Val49Leu	rs1555376413	missense variant	-	NC_000014.9:g.95132677C>G	-
DICER1	Q9UPY3	p.Ala55Pro	rs769164427	missense variant	-	NC_000014.9:g.95132659C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala55Thr	rs769164427	missense variant	-	NC_000014.9:g.95132659C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala55Thr	RCV000539270	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132659C>T	ClinVar
DICER1	Q9UPY3	p.Asp57His	rs570871959	missense variant	-	NC_000014.9:g.95132653C>G	1000Genomes,ExAC
DICER1	Q9UPY3	p.His58Asp	RCV000552718	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132650G>C	ClinVar
DICER1	Q9UPY3	p.His58Asp	rs1555376409	missense variant	-	NC_000014.9:g.95132650G>C	-
DICER1	Q9UPY3	p.Asn59Asp	rs1368593353	missense variant	-	NC_000014.9:g.95132647T>C	gnomAD
DICER1	Q9UPY3	p.Thr60Ile	RCV000230149	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132643G>A	ClinVar
DICER1	Q9UPY3	p.Thr60Ile	RCV000567350	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132643G>A	ClinVar
DICER1	Q9UPY3	p.Thr60Ile	rs587778228	missense variant	-	NC_000014.9:g.95132643G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile61Val	RCV000458877	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132641T>C	ClinVar
DICER1	Q9UPY3	p.Ile61Val	rs1060503646	missense variant	-	NC_000014.9:g.95132641T>C	-
DICER1	Q9UPY3	p.Val62Ile	RCV000654380	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132638C>T	ClinVar
DICER1	Q9UPY3	p.Val62Ile	rs746671039	missense variant	-	NC_000014.9:g.95132638C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu64Phe	RCV000531832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132630T>A	ClinVar
DICER1	Q9UPY3	p.Leu64Phe	rs1231822339	missense variant	-	NC_000014.9:g.95132630T>A	TOPMed
DICER1	Q9UPY3	p.Thr66Ala	RCV000654470	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132626T>C	ClinVar
DICER1	Q9UPY3	p.Thr66Ala	rs1555376402	missense variant	-	NC_000014.9:g.95132626T>C	-
DICER1	Q9UPY3	p.Thr66Ile	rs777362732	missense variant	-	NC_000014.9:g.95132625G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr71Arg	rs376657431	missense variant	-	NC_000014.9:g.95132610G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile73Thr	rs1312551730	missense variant	-	NC_000014.9:g.95132604A>G	TOPMed
DICER1	Q9UPY3	p.Ala74Leu	RCV000690532	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132601_95132602delinsAA	ClinVar
DICER1	Q9UPY3	p.Ala74Ser	rs202181696	missense variant	-	NC_000014.9:g.95132602C>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala74Val	rs200331768	missense variant	-	NC_000014.9:g.95132601G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val75Leu	rs899822269	missense variant	-	NC_000014.9:g.95132599C>A	TOPMed
DICER1	Q9UPY3	p.Thr78Ala	RCV000696264	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132590T>C	ClinVar
DICER1	Q9UPY3	p.Glu80Val	rs1249513421	missense variant	-	NC_000014.9:g.95132583T>A	TOPMed
DICER1	Q9UPY3	p.Ser82Tyr	rs751813700	missense variant	-	NC_000014.9:g.95132577G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr83Cys	RCV000574980	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132574T>C	ClinVar
DICER1	Q9UPY3	p.Tyr83Cys	rs373646414	missense variant	-	NC_000014.9:g.95132574T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr83Cys	RCV000231291	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132574T>C	ClinVar
DICER1	Q9UPY3	p.Ile85Met	RCV000573094	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132567G>C	ClinVar
DICER1	Q9UPY3	p.Ile85Met	rs763422772	missense variant	-	NC_000014.9:g.95132567G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg86Gly	RCV000569742	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132566T>C	ClinVar
DICER1	Q9UPY3	p.Arg86Ter	RCV000534037	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132566del	ClinVar
DICER1	Q9UPY3	p.Arg86Gly	rs1555376374	missense variant	-	NC_000014.9:g.95132566T>C	-
DICER1	Q9UPY3	p.Asp88Val	rs775828379	missense variant	-	NC_000014.9:g.95132559T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp88Val	RCV000472522	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132559T>A	ClinVar
DICER1	Q9UPY3	p.Arg91Lys	rs878855252	missense variant	-	NC_000014.9:g.95132550C>T	gnomAD
DICER1	Q9UPY3	p.Arg91Lys	RCV000225966	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132550C>T	ClinVar
DICER1	Q9UPY3	p.Gly93Glu	RCV000465833	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132544C>T	ClinVar
DICER1	Q9UPY3	p.Gly93Glu	rs776219930	missense variant	-	NC_000014.9:g.95132544C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly93Glu	RCV000564923	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132544C>T	ClinVar
DICER1	Q9UPY3	p.Arg95Ter	RCV000558690	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132542_95132543dup	ClinVar
DICER1	Q9UPY3	p.Thr96Met	rs770567567	missense variant	-	NC_000014.9:g.95132535G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val97Ala	RCV000464977	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132532A>G	ClinVar
DICER1	Q9UPY3	p.Val97Ala	rs1060503582	missense variant	-	NC_000014.9:g.95132532A>G	-
DICER1	Q9UPY3	p.Val100Gly	rs1390907504	missense variant	-	NC_000014.9:g.95132523A>C	TOPMed
DICER1	Q9UPY3	p.Ala107Val	RCV000465807	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131627G>A	ClinVar
DICER1	Q9UPY3	p.Ala107Val	rs1060503655	missense variant	-	NC_000014.9:g.95131627G>A	-
DICER1	Q9UPY3	p.Gln108Arg	RCV000688162	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131624T>C	ClinVar
DICER1	Q9UPY3	p.Val110Met	RCV000654424	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131619C>T	ClinVar
DICER1	Q9UPY3	p.Val110Met	rs1555376190	missense variant	-	NC_000014.9:g.95131619C>T	-
DICER1	Q9UPY3	p.Ala112Val	RCV000542109	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131612G>A	ClinVar
DICER1	Q9UPY3	p.Ala112Val	rs1555376185	missense variant	-	NC_000014.9:g.95131612G>A	-
DICER1	Q9UPY3	p.Asp118Val	rs1442952372	missense variant	-	NC_000014.9:g.95131594T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp118Ala	rs1442952372	missense variant	-	NC_000014.9:g.95131594T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp118Asn	rs557182925	missense variant	-	NC_000014.9:g.95131595C>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu119Phe	RCV000457510	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131592G>A	ClinVar
DICER1	Q9UPY3	p.Leu119Phe	rs1060503661	missense variant	-	NC_000014.9:g.95131592G>A	-
DICER1	Q9UPY3	p.Leu119His	rs760049904	missense variant	-	NC_000014.9:g.95131591A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys120Met	RCV000566901	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	RCV000474331	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	RCV000765199	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	rs1060503608	missense variant	-	NC_000014.9:g.95131588T>A	gnomAD
DICER1	Q9UPY3	p.Glu123Ter	rs1482258814	stop gained	-	NC_000014.9:g.95131580C>A	gnomAD
DICER1	Q9UPY3	p.Ser125Leu	RCV000654365	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131573G>A	ClinVar
DICER1	Q9UPY3	p.Ser125Leu	rs377669634	missense variant	-	NC_000014.9:g.95131573G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn126Ser	RCV000464564	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131570T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Asp	RCV000568690	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131571T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Asp	RCV000803170	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131571T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Asp	rs373734886	missense variant	-	NC_000014.9:g.95131571T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn126Ser	rs1060503593	missense variant	-	NC_000014.9:g.95131570T>C	-
DICER1	Q9UPY3	p.Leu127Val	RCV000559895	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131568G>C	ClinVar
DICER1	Q9UPY3	p.Leu127Val	RCV000567723	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131568G>C	ClinVar
DICER1	Q9UPY3	p.Leu127Val	rs560739585	missense variant	-	NC_000014.9:g.95131568G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu128Ala	rs1345117803	missense variant	-	NC_000014.9:g.95131564T>G	TOPMed
DICER1	Q9UPY3	p.Glu128Ala	RCV000702359	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131564T>G	ClinVar
DICER1	Q9UPY3	p.Ala131Val	rs774138190	missense variant	-	NC_000014.9:g.95131555G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu136Ala	RCV000554347	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131540T>G	ClinVar
DICER1	Q9UPY3	p.Glu136Ala	rs1037879170	missense variant	-	NC_000014.9:g.95131540T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu136Gln	rs768445477	missense variant	-	NC_000014.9:g.95131541C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Phe142Leu	rs780014291	missense variant	-	NC_000014.9:g.95131521A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr143Ala	RCV000458595	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131520T>C	ClinVar
DICER1	Q9UPY3	p.Thr143Ala	rs1060503612	missense variant	-	NC_000014.9:g.95131520T>C	gnomAD
DICER1	Q9UPY3	p.Lys144Met	RCV000471774	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131516T>A	ClinVar
DICER1	Q9UPY3	p.Lys144Asn	RCV000654392	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131515C>G	ClinVar
DICER1	Q9UPY3	p.Lys144Asn	rs370784723	missense variant	-	NC_000014.9:g.95131515C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys144Met	rs1060503629	missense variant	-	NC_000014.9:g.95131516T>A	-
DICER1	Q9UPY3	p.His145Arg	rs747179239	missense variant	-	NC_000014.9:g.95131513T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.His145Gln	rs1473045432	missense variant	-	NC_000014.9:g.95131512G>C	gnomAD
DICER1	Q9UPY3	p.Val147Phe	RCV000692554	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130192C>A	ClinVar
DICER1	Q9UPY3	p.Ile149Thr	RCV000463130	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130185A>G	ClinVar
DICER1	Q9UPY3	p.Ile149Thr	rs549001286	missense variant	-	NC_000014.9:g.95130185A>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met150Leu	RCV000568271	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130183T>A	ClinVar
DICER1	Q9UPY3	p.Met150Leu	RCV000809322	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130183T>A	ClinVar
DICER1	Q9UPY3	p.Met150Leu	rs1447817443	missense variant	-	NC_000014.9:g.95130183T>A	gnomAD
DICER1	Q9UPY3	p.Met150Val	rs1447817443	missense variant	-	NC_000014.9:g.95130183T>C	gnomAD
DICER1	Q9UPY3	p.Tyr153Cys	rs769827245	missense variant	-	NC_000014.9:g.95130173T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val154Ter	RCV000524590	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130172dup	ClinVar
DICER1	Q9UPY3	p.Ala155Thr	RCV000227833	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130168C>T	ClinVar
DICER1	Q9UPY3	p.Ala155Thr	rs745802492	missense variant	-	NC_000014.9:g.95130168C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys160Glu	rs777839118	missense variant	-	NC_000014.9:g.95130153T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn161Asp	rs373532001	missense variant	-	NC_000014.9:g.95130150T>C	ESP,ExAC
DICER1	Q9UPY3	p.Asn161His	rs373532001	missense variant	-	NC_000014.9:g.95130150T>G	ESP,ExAC
DICER1	Q9UPY3	p.Gly162Asp	rs142815547	missense variant	-	NC_000014.9:g.95130146C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly162Asp	RCV000494493	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130146C>T	ClinVar
DICER1	Q9UPY3	p.Tyr163Ter	RCV000205672	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130142G>C	ClinVar
DICER1	Q9UPY3	p.Tyr163Asn	rs1274642595	missense variant	-	NC_000014.9:g.95130144A>T	gnomAD
DICER1	Q9UPY3	p.Tyr163Ter	rs864622626	stop gained	-	NC_000014.9:g.95130142G>C	-
DICER1	Q9UPY3	p.Tyr163His	rs1274642595	missense variant	-	NC_000014.9:g.95130144A>G	gnomAD
DICER1	Q9UPY3	p.Ser165Pro	RCV000568030	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130138A>G	ClinVar
DICER1	Q9UPY3	p.Ser165Pro	RCV000476646	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130138A>G	ClinVar
DICER1	Q9UPY3	p.Ser165Pro	rs894664317	missense variant	-	NC_000014.9:g.95130138A>G	TOPMed
DICER1	Q9UPY3	p.Asp175Gly	rs766984054	missense variant	-	NC_000014.9:g.95130107T>C	ExAC
DICER1	Q9UPY3	p.Glu176Val	RCV000654370	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130104T>A	ClinVar
DICER1	Q9UPY3	p.Glu176Val	rs756586319	missense variant	-	NC_000014.9:g.95130104T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu176Lys	rs1177718322	missense variant	-	NC_000014.9:g.95130105C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.His178Leu	rs201239474	missense variant	-	NC_000014.9:g.95130098T>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His178Arg	rs201239474	missense variant	-	NC_000014.9:g.95130098T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala180Ter	RCV000555663	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130096del	ClinVar
DICER1	Q9UPY3	p.Ala180Gly	rs375454363	missense variant	-	NC_000014.9:g.95130092G>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala180Val	rs375454363	missense variant	-	NC_000014.9:g.95130092G>A	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ile181Val	rs761253717	missense variant	-	NC_000014.9:g.95130090T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp183Glu	RCV000460261	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130082G>C	ClinVar
DICER1	Q9UPY3	p.Asp183Glu	rs1060503587	missense variant	-	NC_000014.9:g.95130082G>C	-
DICER1	Q9UPY3	p.Pro185Arg	rs1170562259	missense variant	-	NC_000014.9:g.95130077G>C	gnomAD
DICER1	Q9UPY3	p.Arg187Gln	RCV000543718	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130071C>T	ClinVar
DICER1	Q9UPY3	p.Arg187Gly	RCV000654367	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>C	ClinVar
DICER1	Q9UPY3	p.Arg187Gln	rs775207591	missense variant	-	NC_000014.9:g.95130071C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg187Ter	rs763801533	stop gained	-	NC_000014.9:g.95130072G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg187Pro	rs775207591	missense variant	-	NC_000014.9:g.95130071C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg187Gly	rs763801533	missense variant	-	NC_000014.9:g.95130072G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg187Ter	RCV000206588	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>A	ClinVar
DICER1	Q9UPY3	p.Met190Lys	RCV000568748	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130062A>T	ClinVar
DICER1	Q9UPY3	p.Met190Val	rs769477041	missense variant	-	NC_000014.9:g.95130063T>C	ExAC
DICER1	Q9UPY3	p.Met190Lys	rs1555375918	missense variant	-	NC_000014.9:g.95130062A>T	-
DICER1	Q9UPY3	p.Lys191Arg	rs1162746497	missense variant	-	NC_000014.9:g.95130059T>C	TOPMed
DICER1	Q9UPY3	p.Asn195His	rs770842365	missense variant	-	NC_000014.9:g.95129623T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn195His	RCV000458293	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129623T>G	ClinVar
DICER1	Q9UPY3	p.Pro197Leu	rs1060503642	missense variant	-	NC_000014.9:g.95129616G>A	gnomAD
DICER1	Q9UPY3	p.Pro197Leu	RCV000472039	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129616G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ser	RCV000548749	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129617G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ser	RCV000573122	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129617G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ser	rs375689793	missense variant	-	NC_000014.9:g.95129617G>A	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro197Ala	rs375689793	missense variant	-	NC_000014.9:g.95129617G>C	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser198Leu	rs1024665554	missense variant	-	NC_000014.9:g.95129613G>A	TOPMed
DICER1	Q9UPY3	p.Arg201Cys	RCV000654448	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129605G>A	ClinVar
DICER1	Q9UPY3	p.Arg201His	rs749484792	missense variant	-	NC_000014.9:g.95129604C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201Ser	rs774514314	missense variant	-	NC_000014.9:g.95129605G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg201Leu	rs749484792	missense variant	-	NC_000014.9:g.95129604C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201Pro	rs749484792	missense variant	-	NC_000014.9:g.95129604C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201Cys	rs774514314	missense variant	-	NC_000014.9:g.95129605G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser208Phe	rs1424652177	missense variant	-	NC_000014.9:g.95129583G>A	TOPMed
DICER1	Q9UPY3	p.Leu210Ser	RCV000575811	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129577A>G	ClinVar
DICER1	Q9UPY3	p.Leu210Ter	rs886037730	stop gained	-	NC_000014.9:g.95129577A>C	TOPMed
DICER1	Q9UPY3	p.Leu210Ser	rs886037730	missense variant	-	NC_000014.9:g.95129577A>G	TOPMed
DICER1	Q9UPY3	p.del210del	RCV000240938	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
DICER1	Q9UPY3	p.Leu210Ter	RCV000240938	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
DICER1	Q9UPY3	p.Asn211Asp	rs1392979238	missense variant	-	NC_000014.9:g.95129575T>C	TOPMed
DICER1	Q9UPY3	p.Asp215Asn	rs781713298	missense variant	-	NC_000014.9:g.95129563C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro216Thr	rs757700482	missense variant	-	NC_000014.9:g.95129560G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu217Val	RCV000692066	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129556T>A	ClinVar
DICER1	Q9UPY3	p.Glu218Lys	RCV000474822	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129554C>T	ClinVar
DICER1	Q9UPY3	p.Glu218Lys	rs747514493	missense variant	-	NC_000014.9:g.95129554C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu220Asp	RCV000542050	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129546T>G	ClinVar
DICER1	Q9UPY3	p.Glu220Asp	rs1555375819	missense variant	-	NC_000014.9:g.95129546T>G	-
DICER1	Q9UPY3	p.Glu221Val	RCV000814385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129544T>A	ClinVar
DICER1	Q9UPY3	p.Glu221Val	rs757925350	missense variant	-	NC_000014.9:g.95129544T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu221Val	RCV000569381	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129544T>A	ClinVar
DICER1	Q9UPY3	p.Lys222Glu	rs752322804	missense variant	-	NC_000014.9:g.95129542T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln224Leu	RCV000654408	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129535T>A	ClinVar
DICER1	Q9UPY3	p.Gln224Leu	rs1555375816	missense variant	-	NC_000014.9:g.95129535T>A	-
DICER1	Q9UPY3	p.Lys225Arg	rs1445983492	missense variant	-	NC_000014.9:g.95129532T>C	gnomAD
DICER1	Q9UPY3	p.Lys225Gln	rs764839440	missense variant	-	NC_000014.9:g.95129533T>G	ExAC
DICER1	Q9UPY3	p.Lys228Arg	RCV000463769	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129523T>C	ClinVar
DICER1	Q9UPY3	p.Lys228Arg	rs1060503659	missense variant	-	NC_000014.9:g.95129523T>C	-
DICER1	Q9UPY3	p.Lys231Arg	rs754799308	missense variant	-	NC_000014.9:g.95129514T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn233Ser	rs1465088683	missense variant	-	NC_000014.9:g.95129508T>C	gnomAD
DICER1	Q9UPY3	p.Thr238Ala	rs760627991	missense variant	-	NC_000014.9:g.95129494T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp239Gly	RCV000654445	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129490T>C	ClinVar
DICER1	Q9UPY3	p.Asp239Gly	rs1555375788	missense variant	-	NC_000014.9:g.95129490T>C	-
DICER1	Q9UPY3	p.Leu240Val	rs1060503615	missense variant	-	NC_000014.9:g.95129488G>C	-
DICER1	Q9UPY3	p.Leu240Val	RCV000460684	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129488G>C	ClinVar
DICER1	Q9UPY3	p.Val241Leu	rs1312732514	missense variant	-	NC_000014.9:g.95129485C>A	TOPMed
DICER1	Q9UPY3	p.Val242Ile	rs1290563406	missense variant	-	NC_000014.9:g.95129482C>T	gnomAD
DICER1	Q9UPY3	p.Asp244Gly	rs764223602	missense variant	-	NC_000014.9:g.95129475T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg245Ser	rs767605412	missense variant	-	NC_000014.9:g.95126748C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg245Ser	RCV000531119	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126748C>A	ClinVar
DICER1	Q9UPY3	p.Tyr246Cys	RCV000546158	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126746T>C	ClinVar
DICER1	Q9UPY3	p.Tyr246Phe	rs775370673	missense variant	-	NC_000014.9:g.95126746T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr246Cys	rs775370673	missense variant	-	NC_000014.9:g.95126746T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr247Ala	RCV000560829	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126744T>C	ClinVar
DICER1	Q9UPY3	p.Thr247Ala	rs369189695	missense variant	-	NC_000014.9:g.95126744T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser248Thr	rs759633210	missense variant	-	NC_000014.9:g.95126741A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser248Thr	RCV000463647	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126741A>T	ClinVar
DICER1	Q9UPY3	p.Gln249Ter	rs886037732	stop gained	-	NC_000014.9:g.95126738G>A	-
DICER1	Q9UPY3	p.Gln249Arg	rs776934552	missense variant	-	NC_000014.9:g.95126737T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln249Ter	RCV000240901	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
DICER1	Q9UPY3	p.del249del	RCV000240901	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
DICER1	Q9UPY3	p.Cys251Tyr	rs1167822359	missense variant	-	NC_000014.9:g.95126731C>T	gnomAD
DICER1	Q9UPY3	p.Cys251Arg	rs1353008772	missense variant	-	NC_000014.9:g.95126732A>G	-
DICER1	Q9UPY3	p.Cys251Arg	RCV000654449	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126732A>G	ClinVar
DICER1	Q9UPY3	p.Ile253Ter	RCV000654362	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126726dup	ClinVar
DICER1	Q9UPY3	p.Ile253Val	rs1418479189	missense variant	-	NC_000014.9:g.95126726T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly258Val	RCV000324795	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95126710C>A	ClinVar
DICER1	Q9UPY3	p.Gly258Val	rs188327838	missense variant	-	NC_000014.9:g.95126710C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro259Leu	RCV000558887	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126707G>A	ClinVar
DICER1	Q9UPY3	p.Pro259Leu	RCV000576081	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126707G>A	ClinVar
DICER1	Q9UPY3	p.Pro259Leu	rs566464225	missense variant	-	NC_000014.9:g.95126707G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu266Phe	rs772627278	missense variant	-	NC_000014.9:g.95126687G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu268Gly	RCV000470858	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126680T>C	ClinVar
DICER1	Q9UPY3	p.Glu268Gly	rs774554682	missense variant	-	NC_000014.9:g.95126680T>C	gnomAD
DICER1	Q9UPY3	p.Glu268Lys	rs1251925935	missense variant	-	NC_000014.9:g.95126681C>T	gnomAD
DICER1	Q9UPY3	p.Met272Ile	RCV000699253	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126667C>G	ClinVar
DICER1	Q9UPY3	p.Glu273Ala	RCV000691517	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126665T>G	ClinVar
DICER1	Q9UPY3	p.Leu274Val	RCV000568089	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126663A>C	ClinVar
DICER1	Q9UPY3	p.Leu274Val	rs778219828	missense variant	-	NC_000014.9:g.95126663A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu274Val	RCV000474599	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126663A>C	ClinVar
DICER1	Q9UPY3	p.Glu275Ter	RCV000536462	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126660C>A	ClinVar
DICER1	Q9UPY3	p.Glu275Ter	rs1555375333	stop gained	-	NC_000014.9:g.95126660C>A	-
DICER1	Q9UPY3	p.Ala277Val	RCV000476889	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126653G>A	ClinVar
DICER1	Q9UPY3	p.Ala277Val	rs986916694	missense variant	-	NC_000014.9:g.95126653G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu278Phe	RCV000240941	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126651G>A	ClinVar
DICER1	Q9UPY3	p.Leu278Phe	rs768248216	missense variant	-	NC_000014.9:g.95126651G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn279Ser	rs1422024152	missense variant	-	NC_000014.9:g.95126647T>C	TOPMed
DICER1	Q9UPY3	p.Asn279Tyr	rs1345404696	missense variant	-	NC_000014.9:g.95126648T>A	gnomAD
DICER1	Q9UPY3	p.Asn279Tyr	RCV000687219	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126648T>A	ClinVar
DICER1	Q9UPY3	p.Asp283Val	RCV000686266	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126635T>A	ClinVar
DICER1	Q9UPY3	p.Cys284Tyr	RCV000696424	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126632C>T	ClinVar
DICER1	Q9UPY3	p.Cys284Arg	rs1412252643	missense variant	-	NC_000014.9:g.95126633A>G	gnomAD
DICER1	Q9UPY3	p.Asn285Ser	rs748847398	missense variant	-	NC_000014.9:g.95126629T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn285Ser	RCV000571313	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126629T>C	ClinVar
DICER1	Q9UPY3	p.Ser287Cys	RCV000469952	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126623G>C	ClinVar
DICER1	Q9UPY3	p.Ser287Cys	rs1060503600	missense variant	-	NC_000014.9:g.95126623G>C	-
DICER1	Q9UPY3	p.Val288Ile	RCV000654405	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126621C>T	ClinVar
DICER1	Q9UPY3	p.Val288Ile	rs1555375302	missense variant	-	NC_000014.9:g.95126621C>T	-
DICER1	Q9UPY3	p.Arg293Ter	RCV000493107	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126603_95126606del	ClinVar
DICER1	Q9UPY3	p.Arg293Ter	RCV000493010	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126608del	ClinVar
DICER1	Q9UPY3	p.Arg293Gly	RCV000225818	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126606T>C	ClinVar
DICER1	Q9UPY3	p.Arg293Gly	rs878855277	missense variant	-	NC_000014.9:g.95126606T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg293Ter	RCV000240877	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126603_95126606del	ClinVar
DICER1	Q9UPY3	p.Ser295Cys	RCV000566029	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126599G>C	ClinVar
DICER1	Q9UPY3	p.Ser295Cys	rs548231008	missense variant	-	NC_000014.9:g.95126599G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser299Leu	RCV000232640	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126587G>A	ClinVar
DICER1	Q9UPY3	p.Ser299Leu	RCV000565567	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126587G>A	ClinVar
DICER1	Q9UPY3	p.Ser299Leu	rs755944755	missense variant	-	NC_000014.9:g.95126587G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys300Glu	rs1428486464	missense variant	-	NC_000014.9:g.95126585T>C	gnomAD
DICER1	Q9UPY3	p.Gln301Glu	rs781144010	missense variant	-	NC_000014.9:g.95126582G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln301Ter	rs781144010	stop gained	-	NC_000014.9:g.95126582G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln301Ter	RCV000526362	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126582G>A	ClinVar
DICER1	Q9UPY3	p.Ile302Leu	RCV000654366	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124668T>G	ClinVar
DICER1	Q9UPY3	p.Ile302Leu	rs1555374864	missense variant	-	NC_000014.9:g.95124668T>G	-
DICER1	Q9UPY3	p.Arg307Cys	RCV000551570	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124653G>A	ClinVar
DICER1	Q9UPY3	p.Arg307Cys	RCV000568506	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124653G>A	ClinVar
DICER1	Q9UPY3	p.Arg307His	rs149718671	missense variant	-	NC_000014.9:g.95124652C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg307Gly	rs772431718	missense variant	-	NC_000014.9:g.95124653G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg307Cys	rs772431718	missense variant	-	NC_000014.9:g.95124653G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg307His	RCV000570173	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124652C>T	ClinVar
DICER1	Q9UPY3	p.Arg307His	RCV000226203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124652C>T	ClinVar
DICER1	Q9UPY3	p.Ala308Ser	rs1047347414	missense variant	-	NC_000014.9:g.95124650C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala308Thr	rs1047347414	missense variant	-	NC_000014.9:g.95124650C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val309Ile	RCV000569084	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124647C>T	ClinVar
DICER1	Q9UPY3	p.Val309Ile	RCV000525307	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124647C>T	ClinVar
DICER1	Q9UPY3	p.Val309Ile	rs1181141404	missense variant	-	NC_000014.9:g.95124647C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu313Ter	RCV000493641	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124635dup	ClinVar
DICER1	Q9UPY3	p.Pro315Leu	rs956714281	missense variant	-	NC_000014.9:g.95124628G>A	TOPMed
DICER1	Q9UPY3	p.Trp316Ter	RCV000493574	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124612_95124625del	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	RCV000654416	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124625C>T	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	RCV000851487	nonsense	-	NC_000014.9:g.95124625C>T	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	rs1555374839	stop gained	-	NC_000014.9:g.95124625C>T	-
DICER1	Q9UPY3	p.Lys320Arg	RCV000463070	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124613T>C	ClinVar
DICER1	Q9UPY3	p.Lys320Glu	rs1461043339	missense variant	-	NC_000014.9:g.95124614T>C	gnomAD
DICER1	Q9UPY3	p.Lys320Arg	rs779851333	missense variant	-	NC_000014.9:g.95124613T>C	ExAC
DICER1	Q9UPY3	p.Val321Ala	rs769510530	missense variant	-	NC_000014.9:g.95124610A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly323Val	RCV000563980	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124604C>A	ClinVar
DICER1	Q9UPY3	p.Gly323Val	RCV000540314	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124604C>A	ClinVar
DICER1	Q9UPY3	p.Gly323Val	rs906299601	missense variant	-	NC_000014.9:g.95124604C>A	gnomAD
DICER1	Q9UPY3	p.Met324Ile	RCV000654395	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124600C>T	ClinVar
DICER1	Q9UPY3	p.Met324Ile	rs1555374806	missense variant	-	NC_000014.9:g.95124600C>T	-
DICER1	Q9UPY3	p.Met324Val	rs1452957166	missense variant	-	NC_000014.9:g.95124602T>C	gnomAD
DICER1	Q9UPY3	p.Met325Val	RCV000654430	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124599T>C	ClinVar
DICER1	Q9UPY3	p.Met325Ile	rs1260695579	missense variant	-	NC_000014.9:g.95124597C>T	gnomAD
DICER1	Q9UPY3	p.Met325Val	rs1555374801	missense variant	-	NC_000014.9:g.95124599T>C	-
DICER1	Q9UPY3	p.Val326Leu	RCV000654393	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>G	ClinVar
DICER1	Q9UPY3	p.Val326Leu	RCV000566754	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124596C>G	ClinVar
DICER1	Q9UPY3	p.Val326Ile	RCV000654443	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>T	ClinVar
DICER1	Q9UPY3	p.Val326Ile	rs1555374798	missense variant	-	NC_000014.9:g.95124596C>T	-
DICER1	Q9UPY3	p.Val326Leu	rs1555374798	missense variant	-	NC_000014.9:g.95124596C>G	-
DICER1	Q9UPY3	p.Arg327Gly	RCV000554989	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124593T>C	ClinVar
DICER1	Q9UPY3	p.Arg327Gly	rs1555374797	missense variant	-	NC_000014.9:g.95124593T>C	-
DICER1	Q9UPY3	p.Tyr332Ter	RCV000240904	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124576G>T	ClinVar
DICER1	Q9UPY3	p.Tyr332Ter	rs757094384	stop gained	-	NC_000014.9:g.95124576G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His335Arg	RCV000471033	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124568T>C	ClinVar
DICER1	Q9UPY3	p.His335Gln	RCV000696809	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124567A>C	ClinVar
DICER1	Q9UPY3	p.His335Arg	RCV000573917	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124568T>C	ClinVar
DICER1	Q9UPY3	p.His335Tyr	rs556647675	missense variant	-	NC_000014.9:g.95124569G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.His335Arg	rs1060503602	missense variant	-	NC_000014.9:g.95124568T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln337His	rs1383771176	missense variant	-	NC_000014.9:g.95124561T>G	gnomAD
DICER1	Q9UPY3	p.Gln337His	RCV000692200	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124561T>G	ClinVar
DICER1	Q9UPY3	p.Glu338Ala	RCV000120644	missense variant	-	NC_000014.9:g.95124559T>G	ClinVar
DICER1	Q9UPY3	p.Glu338Ala	rs587778232	missense variant	-	NC_000014.9:g.95124559T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu339Leu	RCV000535438	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124556_95124557delinsAA	ClinVar
DICER1	Q9UPY3	p.Glu339Asp	RCV000654438	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124555C>G	ClinVar
DICER1	Q9UPY3	p.Glu339Asp	rs755007541	missense variant	-	NC_000014.9:g.95124555C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu339Leu	rs1555374783	missense variant	-	NC_000014.9:g.95124556_95124557delinsAA	-
DICER1	Q9UPY3	p.Leu340Pro	rs753974932	missense variant	-	NC_000014.9:g.95124553A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg342Ter	RCV000493822	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124548del	ClinVar
DICER1	Q9UPY3	p.Phe344Ter	RCV000550323	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124545dup	ClinVar
DICER1	Q9UPY3	p.Phe344Ter	RCV000851433	frameshift	-	NC_000014.9:g.95124545dup	ClinVar
DICER1	Q9UPY3	p.Phe344Leu	RCV000533944	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124540A>C	ClinVar
DICER1	Q9UPY3	p.Phe344Leu	rs1161765608	missense variant	-	NC_000014.9:g.95124540A>C	gnomAD
DICER1	Q9UPY3	p.Leu346Phe	RCV000695217	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124534C>A	ClinVar
DICER1	Q9UPY3	p.Leu346Ter	rs1444222157	stop gained	-	NC_000014.9:g.95124535A>T	gnomAD
DICER1	Q9UPY3	p.Thr348Ala	RCV000548854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124530T>C	ClinVar
DICER1	Q9UPY3	p.Thr348Ile	rs1195740384	missense variant	-	NC_000014.9:g.95124529G>A	gnomAD
DICER1	Q9UPY3	p.Thr348Ala	rs1555374767	missense variant	-	NC_000014.9:g.95124530T>C	-
DICER1	Q9UPY3	p.Phe351Leu	rs1358609309	missense variant	-	NC_000014.9:g.95124519G>C	gnomAD
DICER1	Q9UPY3	p.His356Arg	RCV000561726	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124505T>C	ClinVar
DICER1	Q9UPY3	p.His356Arg	rs1212942890	missense variant	-	NC_000014.9:g.95124505T>C	TOPMed
DICER1	Q9UPY3	p.Ala357Val	RCV000542132	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124502G>A	ClinVar
DICER1	Q9UPY3	p.Ala357Val	rs1555374756	missense variant	-	NC_000014.9:g.95124502G>A	-
DICER1	Q9UPY3	p.Ala357Thr	rs760821185	missense variant	-	NC_000014.9:g.95124503C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu361Lys	RCV000566742	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124491C>T	ClinVar
DICER1	Q9UPY3	p.Glu361Lys	rs878855238	missense variant	-	NC_000014.9:g.95124491C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu361Lys	RCV000232128	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124491C>T	ClinVar
DICER1	Q9UPY3	p.His362Arg	RCV000474601	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124487T>C	ClinVar
DICER1	Q9UPY3	p.His362Arg	rs767729028	missense variant	-	NC_000014.9:g.95124487T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe363Leu	rs878855239	missense variant	-	NC_000014.9:g.95124483G>T	gnomAD
DICER1	Q9UPY3	p.Phe363Val	rs762290893	missense variant	-	NC_000014.9:g.95124485A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser364Leu	RCV000654434	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124481G>A	ClinVar
DICER1	Q9UPY3	p.Ser364Leu	rs1555374748	missense variant	-	NC_000014.9:g.95124481G>A	-
DICER1	Q9UPY3	p.Pro365Leu	RCV000467606	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124478G>A	ClinVar
DICER1	Q9UPY3	p.Pro365Leu	rs1060503598	missense variant	-	NC_000014.9:g.95124478G>A	gnomAD
DICER1	Q9UPY3	p.Pro365Arg	rs1060503598	missense variant	-	NC_000014.9:g.95124478G>C	gnomAD
DICER1	Q9UPY3	p.Ala366Val	rs774693190	missense variant	-	NC_000014.9:g.95124475G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu368Ile	RCV000574059	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124470G>T	ClinVar
DICER1	Q9UPY3	p.Leu368Val	RCV000547415	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124470G>C	ClinVar
DICER1	Q9UPY3	p.Leu368Val	rs1555374747	missense variant	-	NC_000014.9:g.95124470G>C	-
DICER1	Q9UPY3	p.Leu368Ile	rs1555374747	missense variant	-	NC_000014.9:g.95124470G>T	-
DICER1	Q9UPY3	p.Asp369Glu	RCV000525847	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124465G>T	ClinVar
DICER1	Q9UPY3	p.Asp369Glu	rs1555374745	missense variant	-	NC_000014.9:g.95124465G>T	-
DICER1	Q9UPY3	p.Asp369Gly	rs1441684309	missense variant	-	NC_000014.9:g.95124466T>C	TOPMed
DICER1	Q9UPY3	p.Leu370Pro	RCV000229751	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124463A>G	ClinVar
DICER1	Q9UPY3	p.Leu370Pro	rs878855240	missense variant	-	NC_000014.9:g.95124463A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val373Leu	RCV000540691	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124455C>G	ClinVar
DICER1	Q9UPY3	p.Val373Leu	rs369145814	missense variant	-	NC_000014.9:g.95124455C>G	ESP,TOPMed
DICER1	Q9UPY3	p.Pro375Arg	RCV000761116	missense variant	Neuroblastoma (NBLST1)	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Pro375Arg	RCV000570796	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Pro375Arg	rs148758903	missense variant	-	NC_000014.9:g.95124448G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro375Arg	RCV000231396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Val377Ala	rs1390995232	missense variant	-	NC_000014.9:g.95124442A>G	gnomAD
DICER1	Q9UPY3	p.Ile378Asn	rs775070199	missense variant	-	NC_000014.9:g.95124439A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile378Met	rs769457054	missense variant	-	NC_000014.9:g.95124438G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys379Ter	RCV000528753	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124437del	ClinVar
DICER1	Q9UPY3	p.Leu380Gln	rs1372798580	missense variant	-	NC_000014.9:g.95124433A>T	gnomAD
DICER1	Q9UPY3	p.del382del	RCV000493341	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Ter	RCV000493341	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.del382del	RCV000240937	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Ter	RCV000240937	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Lys	rs886037667	missense variant	-	NC_000014.9:g.95124428C>T	gnomAD
DICER1	Q9UPY3	p.Glu382Ter	rs886037667	stop gained	-	NC_000014.9:g.95124428C>A	gnomAD
DICER1	Q9UPY3	p.Ile383Met	rs1219577339	missense variant	-	NC_000014.9:g.95124423G>C	gnomAD
DICER1	Q9UPY3	p.Arg385Gly	RCV000567826	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124419G>C	ClinVar
DICER1	Q9UPY3	p.Arg385His	rs1273140956	missense variant	-	NC_000014.9:g.95124418C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385Cys	rs746886465	missense variant	-	NC_000014.9:g.95124419G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385Gly	rs746886465	missense variant	-	NC_000014.9:g.95124419G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385Ser	rs746886465	missense variant	-	NC_000014.9:g.95124419G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys386Arg	RCV000654459	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124415T>C	ClinVar
DICER1	Q9UPY3	p.Lys386Arg	rs777556655	missense variant	-	NC_000014.9:g.95124415T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys386Arg	RCV000565916	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124415T>C	ClinVar
DICER1	Q9UPY3	p.Lys388Glu	RCV000654450	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124410T>C	ClinVar
DICER1	Q9UPY3	p.Lys388Glu	rs1555374717	missense variant	-	NC_000014.9:g.95124410T>C	-
DICER1	Q9UPY3	p.Tyr390His	RCV000851434	missense variant	-	NC_000014.9:g.95124404A>G	ClinVar
DICER1	Q9UPY3	p.Tyr390His	rs878855241	missense variant	-	NC_000014.9:g.95124404A>G	-
DICER1	Q9UPY3	p.Glu391Asp	rs1269365429	missense variant	-	NC_000014.9:g.95124399C>A	gnomAD
DICER1	Q9UPY3	p.Arg392Ter	RCV000851396	nonsense	-	NC_000014.9:g.95124398G>A	ClinVar
DICER1	Q9UPY3	p.Arg392Ter	rs1131691211	stop gained	-	NC_000014.9:g.95124398G>A	-
DICER1	Q9UPY3	p.Arg392Gln	rs142635816	missense variant	-	NC_000014.9:g.95124397C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.del396del	RCV000493573	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Glu396Ter	RCV000493573	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Glu396Gly	RCV000552764	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385T>C	ClinVar
DICER1	Q9UPY3	p.Glu396Gly	rs1555374707	missense variant	-	NC_000014.9:g.95124385T>C	-
DICER1	Q9UPY3	p.del396del	RCV000240876	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Glu396Ter	RCV000240876	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Ser397Asn	rs1347290726	missense variant	-	NC_000014.9:g.95124382C>T	gnomAD
DICER1	Q9UPY3	p.Ser397Asn	RCV000571846	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124382C>T	ClinVar
DICER1	Q9UPY3	p.Val398Ile	RCV000687412	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124380C>T	ClinVar
DICER1	Q9UPY3	p.Val398Ile	rs1404281132	missense variant	-	NC_000014.9:g.95124380C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu399Ala	RCV000654433	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124376T>G	ClinVar
DICER1	Q9UPY3	p.Glu399Ala	rs1555374703	missense variant	-	NC_000014.9:g.95124376T>G	-
DICER1	Q9UPY3	p.Tyr401Ter	RCV000240914	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124370dup	ClinVar
DICER1	Q9UPY3	p.Tyr401Cys	rs1355146488	missense variant	-	NC_000014.9:g.95124370T>C	gnomAD
DICER1	Q9UPY3	p.Tyr401Ter	rs886037669	stop gained	-	NC_000014.9:g.95124370dup	-
DICER1	Q9UPY3	p.Asn405Ser	rs1024226278	missense variant	-	NC_000014.9:g.95124358T>C	TOPMed
DICER1	Q9UPY3	p.Asn405His	RCV000574527	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124359T>G	ClinVar
DICER1	Q9UPY3	p.Asn405His	RCV000531172	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124359T>G	ClinVar
DICER1	Q9UPY3	p.Asn405His	rs551460901	missense variant	-	NC_000014.9:g.95124359T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn408Asp	rs750625383	missense variant	-	NC_000014.9:g.95124350T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser411Ala	RCV000692244	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124341A>C	ClinVar
DICER1	Q9UPY3	p.Trp412Ter	RCV000523257	frameshift	-	NC_000014.9:g.95124338del	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	RCV000574576	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124335T>G	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	RCV000704373	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124335T>G	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	rs1555374678	missense variant	-	NC_000014.9:g.95124335T>G	-
DICER1	Q9UPY3	p.Asp414Gly	rs1344560237	missense variant	-	NC_000014.9:g.95124331T>C	TOPMed
DICER1	Q9UPY3	p.Glu416Ter	RCV000493435	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124326C>A	ClinVar
DICER1	Q9UPY3	p.Glu416Ter	rs1131691220	stop gained	-	NC_000014.9:g.95124326C>A	-
DICER1	Q9UPY3	p.Asp417Glu	RCV000541482	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124321A>C	ClinVar
DICER1	Q9UPY3	p.Asp417Asn	rs150714784	missense variant	-	NC_000014.9:g.95124323C>T	ESP,ExAC
DICER1	Q9UPY3	p.Asp417Glu	rs899404083	missense variant	-	NC_000014.9:g.95124321A>C	TOPMed
DICER1	Q9UPY3	p.Asp419Gly	RCV000466450	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124316T>C	ClinVar
DICER1	Q9UPY3	p.Asp419Gly	rs1060503623	missense variant	-	NC_000014.9:g.95124316T>C	-
DICER1	Q9UPY3	p.Glu420Lys	RCV000654435	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124314C>T	ClinVar
DICER1	Q9UPY3	p.Glu420Lys	rs1555374663	missense variant	-	NC_000014.9:g.95124314C>T	-
DICER1	Q9UPY3	p.Glu420Gly	rs1280386879	missense variant	-	NC_000014.9:g.95124313T>C	TOPMed
DICER1	Q9UPY3	p.Asp421Gly	rs764367623	missense variant	-	NC_000014.9:g.95124310T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu422Lys	RCV000704087	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124308C>T	ClinVar
DICER1	Q9UPY3	p.Ile424Thr	rs763512012	missense variant	-	NC_000014.9:g.95124301A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu425Lys	rs1435715607	missense variant	-	NC_000014.9:g.95124299C>T	gnomAD
DICER1	Q9UPY3	p.Glu426Gln	rs776158166	missense variant	-	NC_000014.9:g.95124296C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu426Lys	rs776158166	missense variant	-	NC_000014.9:g.95124296C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys429Met	rs1325355975	missense variant	-	NC_000014.9:g.95124286T>A	gnomAD
DICER1	Q9UPY3	p.Pro430Ala	RCV000574018	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124284G>C	ClinVar
DICER1	Q9UPY3	p.Pro430Ala	RCV000462069	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124284G>C	ClinVar
DICER1	Q9UPY3	p.Pro430Ala	rs1060503601	missense variant	-	NC_000014.9:g.95124284G>C	TOPMed
DICER1	Q9UPY3	p.Pro435Ser	rs1222748384	missense variant	-	NC_000014.9:g.95124269G>A	gnomAD
DICER1	Q9UPY3	p.Pro435Leu	VAR_081917	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Ser436Pro	RCV000465655	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124266A>G	ClinVar
DICER1	Q9UPY3	p.Ser436Pro	rs1060503595	missense variant	-	NC_000014.9:g.95124266A>G	-
DICER1	Q9UPY3	p.Ser436Phe	rs1213682122	missense variant	-	NC_000014.9:g.95124265G>A	gnomAD
DICER1	Q9UPY3	p.Thr439Ser	RCV000687785	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124256G>C	ClinVar
DICER1	Q9UPY3	p.Leu442Ter	RCV000493723	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124250dup	ClinVar
DICER1	Q9UPY3	p.Gly444Arg	rs1440194810	missense variant	-	NC_000014.9:g.95124242C>T	gnomAD
DICER1	Q9UPY3	p.Ile446Val	rs1376773899	missense variant	-	NC_000014.9:g.95124236T>C	TOPMed
DICER1	Q9UPY3	p.Val448Met	RCV000654369	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124230C>T	ClinVar
DICER1	Q9UPY3	p.Val448Met	rs1555374618	missense variant	-	NC_000014.9:g.95124230C>T	-
DICER1	Q9UPY3	p.Tyr452Ter	RCV000494670	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124216G>C	ClinVar
DICER1	Q9UPY3	p.Tyr452Ter	rs1131691219	stop gained	-	NC_000014.9:g.95124216G>C	-
DICER1	Q9UPY3	p.Ala454Thr	rs368535616	missense variant	-	NC_000014.9:g.95124212C>T	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Arg459Gly	RCV000689168	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124197T>C	ClinVar
DICER1	Q9UPY3	p.Leu460Phe	RCV000572584	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117751C>G	ClinVar
DICER1	Q9UPY3	p.Leu460Phe	rs1555373260	missense variant	-	NC_000014.9:g.95117751C>G	-
DICER1	Q9UPY3	p.Ile461Leu	RCV000818349	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117750T>A	ClinVar
DICER1	Q9UPY3	p.Ile461Leu	RCV000574882	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117750T>A	ClinVar
DICER1	Q9UPY3	p.Ile461Val	RCV000331637	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117750T>C	ClinVar
DICER1	Q9UPY3	p.Ile461Val	rs141163928	missense variant	-	NC_000014.9:g.95117750T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile461Leu	rs141163928	missense variant	-	NC_000014.9:g.95117750T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys462Arg	RCV000574921	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117746T>C	ClinVar
DICER1	Q9UPY3	p.Lys462Arg	RCV000544563	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117746T>C	ClinVar
DICER1	Q9UPY3	p.Lys462Arg	rs1555373256	missense variant	-	NC_000014.9:g.95117746T>C	-
DICER1	Q9UPY3	p.Ala464Gly	rs761639108	missense variant	-	NC_000014.9:g.95117740G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala464Gly	RCV000797427	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117740G>C	ClinVar
DICER1	Q9UPY3	p.Ala464Gly	RCV000563971	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117740G>C	ClinVar
DICER1	Q9UPY3	p.Gln467Ter	RCV000493643	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117730_95117731del	ClinVar
DICER1	Q9UPY3	p.Asp468Gly	rs536815965	missense variant	-	NC_000014.9:g.95117728T>C	1000Genomes
DICER1	Q9UPY3	p.Glu470Ter	RCV000494242	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.del470del	RCV000494242	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Ter	RCV000240880	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.del470del	RCV000240880	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Asp	RCV000559384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117721C>G	ClinVar
DICER1	Q9UPY3	p.Glu470Asp	rs774271782	missense variant	-	NC_000014.9:g.95117721C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu470Ter	rs886037671	stop gained	-	NC_000014.9:g.95117723C>A	-
DICER1	Q9UPY3	p.Ala472Thr	rs1374595292	missense variant	-	NC_000014.9:g.95117717C>T	gnomAD
DICER1	Q9UPY3	p.Tyr473Ter	RCV000543044	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117715del	ClinVar
DICER1	Q9UPY3	p.Tyr473Ser	RCV000654415	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117713T>G	ClinVar
DICER1	Q9UPY3	p.Tyr473Cys	rs1314692347	missense variant	-	NC_000014.9:g.95117713T>C	gnomAD
DICER1	Q9UPY3	p.Tyr473Ser	rs1314692347	missense variant	-	NC_000014.9:g.95117713T>G	gnomAD
DICER1	Q9UPY3	p.Ile474Val	RCV000470835	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117711T>C	ClinVar
DICER1	Q9UPY3	p.Ile474Val	rs1060503581	missense variant	-	NC_000014.9:g.95117711T>C	-
DICER1	Q9UPY3	p.Ile474Met	rs768640312	missense variant	-	NC_000014.9:g.95117709G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser475Cys	RCV000573989	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117708T>A	ClinVar
DICER1	Q9UPY3	p.Ser475Cys	RCV000472646	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117708T>A	ClinVar
DICER1	Q9UPY3	p.Ser475Cys	rs1060503594	missense variant	-	NC_000014.9:g.95117708T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn477Ser	RCV000564585	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117701T>C	ClinVar
DICER1	Q9UPY3	p.Asn477Ser	RCV000475639	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117701T>C	ClinVar
DICER1	Q9UPY3	p.Asn477Ser	rs1060503630	missense variant	-	NC_000014.9:g.95117701T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile479Val	rs1293949005	missense variant	-	NC_000014.9:g.95117696T>C	TOPMed
DICER1	Q9UPY3	p.Gly481Val	rs1307281391	missense variant	-	NC_000014.9:g.95117689C>A	TOPMed
DICER1	Q9UPY3	p.His482Arg	RCV000654452	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117686T>C	ClinVar
DICER1	Q9UPY3	p.His482Arg	rs749240414	missense variant	-	NC_000014.9:g.95117686T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly485Arg	RCV000556393	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117678C>T	ClinVar
DICER1	Q9UPY3	p.Gly485Arg	rs762155753	missense variant	-	NC_000014.9:g.95117678C>T	gnomAD
DICER1	Q9UPY3	p.Asn487Tyr	RCV000476049	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117672T>A	ClinVar
DICER1	Q9UPY3	p.Asn487Tyr	rs1060503590	missense variant	-	NC_000014.9:g.95117672T>A	-
DICER1	Q9UPY3	p.Gln488Ter	RCV000493763	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117669dup	ClinVar
DICER1	Q9UPY3	p.Gln488His	rs770934736	missense variant	-	NC_000014.9:g.95117667C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro489Leu	RCV000472468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117665G>A	ClinVar
DICER1	Q9UPY3	p.Pro489Leu	rs200866760	missense variant	-	NC_000014.9:g.95117665G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Cys	RCV000570166	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117663G>A	ClinVar
DICER1	Q9UPY3	p.Arg490Ser	RCV000472281	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>T	ClinVar
DICER1	Q9UPY3	p.Arg490Cys	rs777894117	missense variant	-	NC_000014.9:g.95117663G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490His	RCV000534895	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117662C>T	ClinVar
DICER1	Q9UPY3	p.Arg490His	rs1006363970	missense variant	-	NC_000014.9:g.95117662C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Ser	rs777894117	missense variant	-	NC_000014.9:g.95117663G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Leu	rs1006363970	missense variant	-	NC_000014.9:g.95117662C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Cys	RCV000227215	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>A	ClinVar
DICER1	Q9UPY3	p.Lys492Arg	RCV000654469	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117656T>C	ClinVar
DICER1	Q9UPY3	p.Lys492Arg	rs758829946	missense variant	-	NC_000014.9:g.95117656T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln493Glu	rs1184987398	missense variant	-	NC_000014.9:g.95117654G>C	TOPMed
DICER1	Q9UPY3	p.Met494Ile	RCV000572347	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117649C>T	ClinVar
DICER1	Q9UPY3	p.Met494Ile	RCV000803105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117649C>T	ClinVar
DICER1	Q9UPY3	p.Met494Val	RCV000231243	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117651T>C	ClinVar
DICER1	Q9UPY3	p.Met494Val	rs878855243	missense variant	-	NC_000014.9:g.95117651T>C	-
DICER1	Q9UPY3	p.Met494Ile	rs1224788557	missense variant	-	NC_000014.9:g.95117649C>T	gnomAD
DICER1	Q9UPY3	p.Met494Thr	rs1269571329	missense variant	-	NC_000014.9:g.95117650A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met494Thr	RCV000549790	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117650A>G	ClinVar
DICER1	Q9UPY3	p.Ala496Thr	rs779431881	missense variant	-	NC_000014.9:g.95117645C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg499Gly	rs1205403584	missense variant	-	NC_000014.9:g.95117636T>C	gnomAD
DICER1	Q9UPY3	p.Lys500Ter	RCV000211121	nonsense	Pineoblastoma	NC_000014.9:g.95117633T>A	ClinVar
DICER1	Q9UPY3	p.Lys500Ter	rs875989782	stop gained	-	NC_000014.9:g.95117633T>A	-
DICER1	Q9UPY3	p.Glu503Ter	RCV000493893	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	RCV000004726	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	RCV000240918	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Gln	RCV000654409	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>G	ClinVar
DICER1	Q9UPY3	p.Val504Ile	rs748384175	missense variant	-	NC_000014.9:g.95116695C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg509Ter	RCV000851442	nonsense	-	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	RCV000494034	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	RCV000240959	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	rs886037672	stop gained	-	NC_000014.9:g.95116680G>A	-
DICER1	Q9UPY3	p.Glu512Gly	RCV000540230	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116670T>C	ClinVar
DICER1	Q9UPY3	p.Glu512Gly	rs1555372903	missense variant	-	NC_000014.9:g.95116670T>C	-
DICER1	Q9UPY3	p.Glu512Asp	rs1375042165	missense variant	-	NC_000014.9:g.95116669C>G	gnomAD
DICER1	Q9UPY3	p.Asn514Ser	rs750188806	missense variant	-	NC_000014.9:g.95116664T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala518Gly	RCV000696372	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116652G>C	ClinVar
DICER1	Q9UPY3	p.Thr519Ala	RCV000695734	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116650T>C	ClinVar
DICER1	Q9UPY3	p.Ile521Val	rs966168689	missense variant	-	NC_000014.9:g.95116644T>C	TOPMed
DICER1	Q9UPY3	p.Val522Ala	rs1178338521	missense variant	-	NC_000014.9:g.95116640A>G	gnomAD
DICER1	Q9UPY3	p.Val526Ile	RCV000470173	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116629C>T	ClinVar
DICER1	Q9UPY3	p.Val526Ile	rs1060503660	missense variant	-	NC_000014.9:g.95116629C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	RCV000232020	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116622A>G	ClinVar
DICER1	Q9UPY3	p.Ile528Thr	RCV000575192	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116622A>G	ClinVar
DICER1	Q9UPY3	p.Ile528Val	rs755649018	missense variant	-	NC_000014.9:g.95116623T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	rs143099538	missense variant	-	NC_000014.9:g.95116622A>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Leu	rs755649018	missense variant	-	NC_000014.9:g.95116623T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys530Arg	RCV000706694	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116616T>C	ClinVar
DICER1	Q9UPY3	p.Arg536Cys	RCV000573426	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116599G>A	ClinVar
DICER1	Q9UPY3	p.Arg536Cys	rs1007754435	missense variant	-	NC_000014.9:g.95116599G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu542Gly	rs761391603	missense variant	-	NC_000014.9:g.95116580T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu542Gly	RCV000550573	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116580T>C	ClinVar
DICER1	Q9UPY3	p.Glu542Gly	RCV000570700	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116580T>C	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000851443	nonsense	-	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000004729	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Gln	rs143533680	missense variant	-	NC_000014.9:g.95116574C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg544Ter	rs137852979	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95116575G>A	-
DICER1	Q9UPY3	p.Arg544Ter	RCV000240896	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Gln	RCV000528971	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116574C>T	ClinVar
DICER1	Q9UPY3	p.Ser545Phe	rs1344891057	missense variant	-	NC_000014.9:g.95116571G>A	gnomAD
DICER1	Q9UPY3	p.Gln548Leu	rs1261880466	missense variant	-	NC_000014.9:g.95116562T>A	gnomAD
DICER1	Q9UPY3	p.del551del	RCV000240932	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
DICER1	Q9UPY3	p.Gly551Ter	RCV000240932	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
DICER1	Q9UPY3	p.Gly551Ter	rs886037673	stop gained	-	NC_000014.9:g.95116554C>A	-
DICER1	Q9UPY3	p.Arg554Gly	rs148532788	missense variant	-	NC_000014.9:g.95116545T>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala555Val	RCV000697921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116541G>A	ClinVar
DICER1	Q9UPY3	p.Ile557Val	rs139198222	missense variant	-	NC_000014.9:g.95116536T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile561Val	rs147493562	missense variant	-	NC_000014.9:g.95116524T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile561Thr	rs1383145692	missense variant	-	NC_000014.9:g.95116523A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile561Thr	RCV000553612	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116523A>G	ClinVar
DICER1	Q9UPY3	p.Ile561Val	RCV000233675	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116524T>C	ClinVar
DICER1	Q9UPY3	p.del562del	RCV000240961	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
DICER1	Q9UPY3	p.Met562Ter	RCV000240961	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
DICER1	Q9UPY3	p.Ala564Val	RCV000456479	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>A	ClinVar
DICER1	Q9UPY3	p.Ala564Gly	RCV000654417	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>C	ClinVar
DICER1	Q9UPY3	p.Ala564Val	RCV000571889	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116514G>A	ClinVar
DICER1	Q9UPY3	p.Ala564Gly	rs201298288	missense variant	-	NC_000014.9:g.95116514G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala564Val	rs201298288	missense variant	-	NC_000014.9:g.95116514G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala564Thr	rs773357230	missense variant	-	NC_000014.9:g.95116515C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp565Ter	RCV000542373	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116511del	ClinVar
DICER1	Q9UPY3	p.Asp565Val	rs1342138544	missense variant	-	NC_000014.9:g.95116511T>A	TOPMed
DICER1	Q9UPY3	p.Thr566Ter	RCV000240898	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
DICER1	Q9UPY3	p.del566del	RCV000240898	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
DICER1	Q9UPY3	p.Asp567Glu	rs1229773803	missense variant	-	NC_000014.9:g.95116504G>C	TOPMed
DICER1	Q9UPY3	p.Lys568Arg	RCV000705667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116502T>C	ClinVar
DICER1	Q9UPY3	p.Ile569Ter	RCV000459141	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499_95116503del	ClinVar
DICER1	Q9UPY3	p.Ile569Thr	RCV000654465	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499A>G	ClinVar
DICER1	Q9UPY3	p.Ile569Met	RCV000460011	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116498T>C	ClinVar
DICER1	Q9UPY3	p.Ile569Met	rs774765473	missense variant	-	NC_000014.9:g.95116498T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile569Thr	rs1555372847	missense variant	-	NC_000014.9:g.95116499A>G	-
DICER1	Q9UPY3	p.Phe572Ter	RCV000240934	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
DICER1	Q9UPY3	p.del572del	RCV000240934	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
DICER1	Q9UPY3	p.Asp575Glu	RCV000465908	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116480G>T	ClinVar
DICER1	Q9UPY3	p.Asp575Glu	rs1060503652	missense variant	-	NC_000014.9:g.95116480G>T	-
DICER1	Q9UPY3	p.Leu576Phe	rs1310449725	missense variant	-	NC_000014.9:g.95116479G>A	TOPMed
DICER1	Q9UPY3	p.Thr578Ser	RCV000564125	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116472G>C	ClinVar
DICER1	Q9UPY3	p.Thr578Ter	RCV000561602	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116480del	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	RCV000459495	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116472G>C	ClinVar
DICER1	Q9UPY3	p.Thr578Ter	RCV000493051	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116476dup	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	rs1060503586	missense variant	-	NC_000014.9:g.95116472G>C	TOPMed
DICER1	Q9UPY3	p.Tyr579Cys	RCV000530577	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116469T>C	ClinVar
DICER1	Q9UPY3	p.Tyr579Cys	rs769034924	missense variant	-	NC_000014.9:g.95116469T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys580Glu	RCV000654390	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116467T>C	ClinVar
DICER1	Q9UPY3	p.Lys580Glu	rs1555372824	missense variant	-	NC_000014.9:g.95116467T>C	-
DICER1	Q9UPY3	p.Ala581Gly	RCV000545455	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116463G>C	ClinVar
DICER1	Q9UPY3	p.Ala581Gly	rs1555372822	missense variant	-	NC_000014.9:g.95116463G>C	-
DICER1	Q9UPY3	p.Ile582Thr	RCV000240873	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116460A>G	ClinVar
DICER1	Q9UPY3	p.Ile582Thr	rs749686370	missense variant	-	NC_000014.9:g.95116460A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu583Ter	RCV000493199	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116454_95116458del	ClinVar
DICER1	Q9UPY3	p.Glu583Ter	RCV000464540	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116458del	ClinVar
DICER1	Q9UPY3	p.Ile585Val	rs1159702656	missense variant	-	NC_000014.9:g.95115821T>C	TOPMed
DICER1	Q9UPY3	p.Asn588Lys	RCV000543973	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115810G>T	ClinVar
DICER1	Q9UPY3	p.Asn588Lys	rs1555372652	missense variant	-	NC_000014.9:g.95115810G>T	-
DICER1	Q9UPY3	p.Asn588Thr	rs1251715969	missense variant	-	NC_000014.9:g.95115811T>G	gnomAD
DICER1	Q9UPY3	p.Lys589Ter	RCV000466596	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115807del	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	RCV000691080	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115805C>A	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	RCV000575465	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115805C>A	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	rs1555372646	missense variant	-	NC_000014.9:g.95115805C>A	-
DICER1	Q9UPY3	p.Ser591Phe	RCV000558799	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115802G>A	ClinVar
DICER1	Q9UPY3	p.Ser591Ala	rs1406205603	missense variant	-	NC_000014.9:g.95115803A>C	TOPMed
DICER1	Q9UPY3	p.Ser591Phe	rs1555372631	missense variant	-	NC_000014.9:g.95115802G>A	-
DICER1	Q9UPY3	p.Lys592Gln	rs757920193	missense variant	-	NC_000014.9:g.95115800T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser593Leu	rs752424727	missense variant	-	NC_000014.9:g.95115796G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp595Gly	RCV000470722	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115790T>C	ClinVar
DICER1	Q9UPY3	p.Asp595Gly	rs1060503611	missense variant	-	NC_000014.9:g.95115790T>C	gnomAD
DICER1	Q9UPY3	p.Thr596Asn	RCV000226251	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787G>T	ClinVar
DICER1	Q9UPY3	p.Thr596Asn	RCV000573803	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787G>T	ClinVar
DICER1	Q9UPY3	p.del596del	RCV000240926	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.Thr596Ter	RCV000240926	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.del596del	RCV000494138	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.Thr596Ter	RCV000494138	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.Thr596Ile	rs754852266	missense variant	-	NC_000014.9:g.95115787G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr596Asn	rs754852266	missense variant	-	NC_000014.9:g.95115787G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly597Ser	rs1277436466	missense variant	-	NC_000014.9:g.95115785C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly597Ser	RCV000654411	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115785C>T	ClinVar
DICER1	Q9UPY3	p.Glu598Lys	rs753796042	missense variant	-	NC_000014.9:g.95115782C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr599Ala	RCV000654372	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115779T>C	ClinVar
DICER1	Q9UPY3	p.Thr599Ala	rs766492523	missense variant	-	NC_000014.9:g.95115779T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile601Val	RCV000704838	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115773T>C	ClinVar
DICER1	Q9UPY3	p.Ile601Val	rs564224919	missense variant	-	NC_000014.9:g.95115773T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile601Thr	rs760966585	missense variant	-	NC_000014.9:g.95115772A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile601Thr	RCV000654420	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115772A>G	ClinVar
DICER1	Q9UPY3	p.Pro603Thr	RCV000474757	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115767G>T	ClinVar
DICER1	Q9UPY3	p.Pro603Thr	rs1060503614	missense variant	-	NC_000014.9:g.95115767G>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val604Ile	rs960381662	missense variant	-	NC_000014.9:g.95115764C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met605Val	RCV000569184	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115761T>C	ClinVar
DICER1	Q9UPY3	p.Met605Thr	rs1249693564	missense variant	-	NC_000014.9:g.95115760A>G	TOPMed
DICER1	Q9UPY3	p.Met605Val	rs759958601	missense variant	-	NC_000014.9:g.95115761T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met605Thr	RCV000654422	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115760A>G	ClinVar
DICER1	Q9UPY3	p.Asp606Gly	rs545651708	missense variant	-	NC_000014.9:g.95115757T>C	1000Genomes
DICER1	Q9UPY3	p.Asp608Gly	RCV000548401	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>C	ClinVar
DICER1	Q9UPY3	p.Asp608Val	RCV000698469	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>A	ClinVar
DICER1	Q9UPY3	p.Asp608Gly	rs1270338113	missense variant	-	NC_000014.9:g.95115751T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp609Tyr	RCV000231934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115749C>A	ClinVar
DICER1	Q9UPY3	p.Asp609Tyr	rs114947750	missense variant	-	NC_000014.9:g.95115749C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val610Ile	RCV000654396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>T	ClinVar
DICER1	Q9UPY3	p.Val610Leu	RCV000536557	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>G	ClinVar
DICER1	Q9UPY3	p.Val610Ter	RCV000240861	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.del610del	RCV000240861	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.del610del	RCV000493528	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Ter	RCV000493528	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Leu	rs1336108562	missense variant	-	NC_000014.9:g.95115746C>G	gnomAD
DICER1	Q9UPY3	p.Val610Ile	rs1336108562	missense variant	-	NC_000014.9:g.95115746C>T	gnomAD
DICER1	Q9UPY3	p.Pro613Ser	RCV000456159	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115737G>A	ClinVar
DICER1	Q9UPY3	p.Pro613Ser	rs201553563	missense variant	-	NC_000014.9:g.95115737G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr614Ter	RCV000493225	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115735del	ClinVar
DICER1	Q9UPY3	p.Val615Met	rs1315795741	missense variant	-	NC_000014.9:g.95115731C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val615Leu	rs1315795741	missense variant	-	NC_000014.9:g.95115731C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu616Trp	rs771634025	missense variant	-	NC_000014.9:g.95115727A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro618Arg	RCV000654442	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115721G>C	ClinVar
DICER1	Q9UPY3	p.Pro618Arg	rs1555372566	missense variant	-	NC_000014.9:g.95115721G>C	-
DICER1	Q9UPY3	p.Asp619Gly	rs1426451842	missense variant	-	NC_000014.9:g.95115718T>C	TOPMed
DICER1	Q9UPY3	p.Gly621Asp	RCV000703553	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115712C>T	ClinVar
DICER1	Q9UPY3	p.Gly621Ala	rs1369399401	missense variant	-	NC_000014.9:g.95115712C>G	TOPMed
DICER1	Q9UPY3	p.Gly622Ser	RCV000654431	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115710C>T	ClinVar
DICER1	Q9UPY3	p.Gly622Ser	rs1555372556	missense variant	-	NC_000014.9:g.95115710C>T	-
DICER1	Q9UPY3	p.Pro623Ser	RCV000539624	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115707G>A	ClinVar
DICER1	Q9UPY3	p.Pro623Ser	rs778668024	missense variant	-	NC_000014.9:g.95115707G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg624Ter	RCV000493744	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Ter	RCV000240902	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Ter	RCV000851400	nonsense	-	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Ter	rs754818927	stop gained	-	NC_000014.9:g.95115704G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg624Gln	rs753746305	missense variant	-	NC_000014.9:g.95115703C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg624Gly	rs754818927	missense variant	-	NC_000014.9:g.95115704G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr626Lys	RCV000554505	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115697G>T	ClinVar
DICER1	Q9UPY3	p.Thr626Lys	rs375579739	missense variant	-	NC_000014.9:g.95115697G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.del627del	RCV000240940	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Ter	RCV000240940	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Val	rs1312425649	missense variant	-	NC_000014.9:g.95115695T>C	TOPMed
DICER1	Q9UPY3	p.Ile627Ter	RCV000494355	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Ter	RCV000482671	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.del627del	RCV000494355	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.del627del	RCV000482671	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	RCV000569558	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115691T>C	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	RCV000458073	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115691T>C	ClinVar
DICER1	Q9UPY3	p.Asn628Thr	RCV000761009	missense variant	Diffuse astrocytoma	NC_000014.9:g.95115691T>G	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	rs756051157	missense variant	-	NC_000014.9:g.95115691T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr629Met	RCV000528058	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115688G>A	ClinVar
DICER1	Q9UPY3	p.Thr629Met	RCV000565943	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115688G>A	ClinVar
DICER1	Q9UPY3	p.Thr629Met	rs750410087	missense variant	-	NC_000014.9:g.95115688G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr629Ala	rs1177614630	missense variant	-	NC_000014.9:g.95115689T>C	gnomAD
DICER1	Q9UPY3	p.Ile631Val	RCV000229468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115683T>C	ClinVar
DICER1	Q9UPY3	p.Ile631Val	rs878855245	missense variant	-	NC_000014.9:g.95115683T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Phe	rs878855245	missense variant	-	NC_000014.9:g.95115683T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Leu	rs878855245	missense variant	-	NC_000014.9:g.95115683T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.His633Leu	rs763129150	missense variant	-	NC_000014.9:g.95115676T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile634Val	rs752853448	missense variant	-	NC_000014.9:g.95115674T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn635Ser	RCV000575691	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115670T>C	ClinVar
DICER1	Q9UPY3	p.Asn635Ser	RCV000654414	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115670T>C	ClinVar
DICER1	Q9UPY3	p.Asn635Ser	rs765551529	missense variant	-	NC_000014.9:g.95115670T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr637Ter	rs886037682	stop gained	-	NC_000014.9:g.95113222dup	-
DICER1	Q9UPY3	p.Tyr637Ter	RCV000240903	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113222dup	ClinVar
DICER1	Q9UPY3	p.Arg640Gly	RCV000654375	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113214T>C	ClinVar
DICER1	Q9UPY3	p.Arg640Gly	rs1555372107	missense variant	-	NC_000014.9:g.95113214T>C	-
DICER1	Q9UPY3	p.Pro642Thr	rs1235554768	missense variant	-	NC_000014.9:g.95113208G>T	gnomAD
DICER1	Q9UPY3	p.Pro645Leu	rs781253567	missense variant	-	NC_000014.9:g.95113198G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro645Leu	RCV000463332	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113198G>A	ClinVar
DICER1	Q9UPY3	p.Thr647Asn	rs1238144220	missense variant	-	NC_000014.9:g.95113192G>T	gnomAD
DICER1	Q9UPY3	p.Leu649Arg	rs752761725	missense variant	-	NC_000014.9:g.95113186A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro651Ala	rs1315942457	missense variant	-	NC_000014.9:g.95113181G>C	gnomAD
DICER1	Q9UPY3	p.Pro651Ser	rs1315942457	missense variant	-	NC_000014.9:g.95113181G>A	gnomAD
DICER1	Q9UPY3	p.Lys652Thr	RCV000546568	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113177T>G	ClinVar
DICER1	Q9UPY3	p.Lys652Ile	rs755150419	missense variant	-	NC_000014.9:g.95113177T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys652Thr	rs755150419	missense variant	-	NC_000014.9:g.95113177T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys652Gln	rs1339343858	missense variant	-	NC_000014.9:g.95113178T>G	TOPMed
DICER1	Q9UPY3	p.Cys653Phe	rs1022513649	missense variant	-	NC_000014.9:g.95113174C>A	TOPMed
DICER1	Q9UPY3	p.Arg654Gly	RCV000552179	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113172T>C	ClinVar
DICER1	Q9UPY3	p.Arg654Gly	rs1555372083	missense variant	-	NC_000014.9:g.95113172T>C	-
DICER1	Q9UPY3	p.Arg656Gln	RCV000532187	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113165C>T	ClinVar
DICER1	Q9UPY3	p.Arg656Ter	RCV000494166	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Ter	RCV000240942	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Ter	rs754081635	stop gained	-	NC_000014.9:g.95113166G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg656Gly	rs754081635	missense variant	-	NC_000014.9:g.95113166G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg656Gln	rs766707302	missense variant	-	NC_000014.9:g.95113165C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg656Ter	RCV000851447	nonsense	-	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Pro659Ser	RCV000566256	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113157G>A	ClinVar
DICER1	Q9UPY3	p.Pro659Ser	rs1347537043	missense variant	-	NC_000014.9:g.95113157G>A	gnomAD
DICER1	Q9UPY3	p.Asp660Gly	rs151272381	missense variant	-	NC_000014.9:g.95113153T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp660Gly	RCV000573224	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113153T>C	ClinVar
DICER1	Q9UPY3	p.Asp660His	rs773588526	missense variant	-	NC_000014.9:g.95113154C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp660Asn	rs773588526	missense variant	-	NC_000014.9:g.95113154C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp660Gly	RCV000654451	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113153T>C	ClinVar
DICER1	Q9UPY3	p.Thr662Ala	rs1163780413	missense variant	-	NC_000014.9:g.95113148T>C	gnomAD
DICER1	Q9UPY3	p.Tyr664Cys	RCV000654426	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113141T>C	ClinVar
DICER1	Q9UPY3	p.Tyr664Cys	rs1555372066	missense variant	-	NC_000014.9:g.95113141T>C	-
DICER1	Q9UPY3	p.Tyr668Asp	RCV000546133	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113130A>C	ClinVar
DICER1	Q9UPY3	p.Tyr668Asp	rs1555372059	missense variant	-	NC_000014.9:g.95113130A>C	-
DICER1	Q9UPY3	p.Ile671Val	RCV000459832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113121T>C	ClinVar
DICER1	Q9UPY3	p.Ile671Val	rs768315203	missense variant	-	NC_000014.9:g.95113121T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile671Val	RCV000565131	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113121T>C	ClinVar
DICER1	Q9UPY3	p.Asn672Lys	rs748905178	missense variant	-	NC_000014.9:g.95113116G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro674Arg	rs775336086	missense variant	-	NC_000014.9:g.95113111G>C	ExAC
DICER1	Q9UPY3	p.Leu675Val	RCV000697938	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113109G>C	ClinVar
DICER1	Q9UPY3	p.Leu675Val	rs1201056619	missense variant	-	NC_000014.9:g.95113109G>C	TOPMed
DICER1	Q9UPY3	p.Arg676Ter	RCV000226155	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	RCV000494079	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	RCV000851448	nonsense	-	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Pro	RCV000562090	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113105C>G	ClinVar
DICER1	Q9UPY3	p.Arg676Pro	RCV000560799	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113105C>G	ClinVar
DICER1	Q9UPY3	p.Arg676Gln	rs892971080	missense variant	-	NC_000014.9:g.95113105C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg676Pro	rs892971080	missense variant	-	NC_000014.9:g.95113105C>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg676Ter	rs878855246	stop gained	-	NC_000014.9:g.95113106G>A	-
DICER1	Q9UPY3	p.Ala677Thr	RCV000654364	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113103C>T	ClinVar
DICER1	Q9UPY3	p.Ala677Thr	rs1555372041	missense variant	-	NC_000014.9:g.95113103C>T	-
DICER1	Q9UPY3	p.Ser678Phe	RCV000230060	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113099G>A	ClinVar
DICER1	Q9UPY3	p.Ser678Ala	rs377269341	missense variant	-	NC_000014.9:g.95113100A>C	ESP
DICER1	Q9UPY3	p.Ser678Ala	RCV000460461	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113100A>C	ClinVar
DICER1	Q9UPY3	p.Ser678Phe	RCV000573377	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113099G>A	ClinVar
DICER1	Q9UPY3	p.Ser678Phe	rs544623004	missense variant	-	NC_000014.9:g.95113099G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile679Val	rs1224940599	missense variant	-	NC_000014.9:g.95113097T>C	gnomAD
DICER1	Q9UPY3	p.Val680Ile	RCV000476569	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113094C>T	ClinVar
DICER1	Q9UPY3	p.Val680Ile	RCV000571758	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113094C>T	ClinVar
DICER1	Q9UPY3	p.Val680Ile	rs201883449	missense variant	-	NC_000014.9:g.95113094C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro682Gln	RCV000654376	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112243G>T	ClinVar
DICER1	Q9UPY3	p.Pro682Gln	rs752621393	missense variant	-	NC_000014.9:g.95112243G>T	-
DICER1	Q9UPY3	p.Pro683Arg	RCV000549330	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112240G>C	ClinVar
DICER1	Q9UPY3	p.Pro683Arg	rs373914672	missense variant	-	NC_000014.9:g.95112240G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Thr	rs1319798252	missense variant	-	NC_000014.9:g.95112237A>G	gnomAD
DICER1	Q9UPY3	p.Met684Val	rs142300389	missense variant	-	NC_000014.9:g.95112238T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Leu	rs142300389	missense variant	-	NC_000014.9:g.95112238T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Thr	RCV000567909	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112237A>G	ClinVar
DICER1	Q9UPY3	p.Ser685Cys	rs1003714112	missense variant	-	NC_000014.9:g.95112235T>A	TOPMed
DICER1	Q9UPY3	p.Cys686Tyr	rs769510378	missense variant	-	NC_000014.9:g.95112231C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg688Ter	RCV000240958	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Ter	RCV000493794	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	RCV000467565	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112225C>T	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	RCV000567747	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112225C>T	ClinVar
DICER1	Q9UPY3	p.Arg688Leu	rs542398644	missense variant	-	NC_000014.9:g.95112225C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg688Ter	rs886037684	stop gained	-	NC_000014.9:g.95112226G>A	gnomAD
DICER1	Q9UPY3	p.Arg688Ter	RCV000384144	nonsense	-	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	rs542398644	missense variant	-	NC_000014.9:g.95112225C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu691Gln	rs1158581801	missense variant	-	NC_000014.9:g.95112217C>G	gnomAD
DICER1	Q9UPY3	p.Arg692Lys	RCV000567897	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112213C>T	ClinVar
DICER1	Q9UPY3	p.Arg692Lys	RCV000685928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112213C>T	ClinVar
DICER1	Q9UPY3	p.Arg692Lys	rs1555371838	missense variant	-	NC_000014.9:g.95112213C>T	-
DICER1	Q9UPY3	p.Val694Ile	rs770652592	missense variant	-	NC_000014.9:g.95112208C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile697Met	rs746941761	missense variant	-	NC_000014.9:g.95112197A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys699Gly	rs1168346305	missense variant	-	NC_000014.9:g.95112193A>C	gnomAD
DICER1	Q9UPY3	p.Glu700Gly	RCV000526994	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112189T>C	ClinVar
DICER1	Q9UPY3	p.Glu700Gly	rs376691754	missense variant	-	NC_000014.9:g.95112189T>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu702Val	RCV000537187	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112184G>C	ClinVar
DICER1	Q9UPY3	p.Leu702Val	rs1555371818	missense variant	-	NC_000014.9:g.95112184G>C	-
DICER1	Q9UPY3	p.Lys704Arg	RCV000692763	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112177T>C	ClinVar
DICER1	Q9UPY3	p.Lys704Arg	RCV000575302	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112177T>C	ClinVar
DICER1	Q9UPY3	p.Lys704Arg	rs749428279	missense variant	-	NC_000014.9:g.95112177T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile705Val	rs752868874	missense variant	-	NC_000014.9:g.95112175T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu707Lys	RCV000562699	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111454C>T	ClinVar
DICER1	Q9UPY3	p.Glu707Lys	RCV000792504	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111454C>T	ClinVar
DICER1	Q9UPY3	p.Glu707Lys	rs1555371642	missense variant	-	NC_000014.9:g.95111454C>T	-
DICER1	Q9UPY3	p.Pro714Thr	rs911090648	missense variant	-	NC_000014.9:g.95111433G>T	TOPMed
DICER1	Q9UPY3	p.Val715Phe	rs1254898247	missense variant	-	NC_000014.9:g.95111430C>A	gnomAD
DICER1	Q9UPY3	p.Glu718Asp	RCV000570251	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111419C>G	ClinVar
DICER1	Q9UPY3	p.Glu718Asp	RCV000540972	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111419C>G	ClinVar
DICER1	Q9UPY3	p.Glu718Asp	rs1555371628	missense variant	-	NC_000014.9:g.95111419C>G	-
DICER1	Q9UPY3	p.Thr719Ter	RCV000493808	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111415_95111416del	ClinVar
DICER1	Q9UPY3	p.Thr719Ser	rs1342513692	missense variant	-	NC_000014.9:g.95111417G>C	gnomAD
DICER1	Q9UPY3	p.Thr719Ter	RCV000240883	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111415_95111416del	ClinVar
DICER1	Q9UPY3	p.Asp727Gly	rs997546722	missense variant	-	NC_000014.9:g.95111393T>C	-
DICER1	Q9UPY3	p.Leu728Phe	rs1376232943	missense variant	-	NC_000014.9:g.95111389C>G	TOPMed
DICER1	Q9UPY3	p.His729Arg	rs748084431	missense variant	-	NC_000014.9:g.95111387T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.His729Arg	RCV000468577	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111387T>C	ClinVar
DICER1	Q9UPY3	p.Asp730PheAlaTer	RCV000494351	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111386_95111392dup	ClinVar
DICER1	Q9UPY3	p.Asp730Gly	rs780069801	missense variant	-	NC_000014.9:g.95111384T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu731Lys	RCV000460175	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111382C>T	ClinVar
DICER1	Q9UPY3	p.Glu732Gly	RCV000654457	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111378T>C	ClinVar
DICER1	Q9UPY3	p.Glu732Gly	rs1555371605	missense variant	-	NC_000014.9:g.95111378T>C	-
DICER1	Q9UPY3	p.Thr734Ter	RCV000555693	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111374_95111375CT[3]	ClinVar
DICER1	Q9UPY3	p.Thr734Ser	RCV000467449	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111372G>C	ClinVar
DICER1	Q9UPY3	p.Thr734Ser	rs781312991	missense variant	-	NC_000014.9:g.95111372G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser735Gly	rs1039684913	missense variant	-	NC_000014.9:g.95111370T>C	-
DICER1	Q9UPY3	p.Pro737Ser	rs778284198	missense variant	-	NC_000014.9:g.95111364G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro737Ala	rs778284198	missense variant	-	NC_000014.9:g.95111364G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr743Met	rs758932000	missense variant	-	NC_000014.9:g.95111345G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr743Met	RCV000471984	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111345G>A	ClinVar
DICER1	Q9UPY3	p.Arg745Ter	RCV000459736	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111340G>A	ClinVar
DICER1	Q9UPY3	p.Arg745Ter	rs1060503584	stop gained	-	NC_000014.9:g.95111340G>A	-
DICER1	Q9UPY3	p.Arg746Gly	rs886037686	missense variant	-	NC_000014.9:g.95111337T>C	-
DICER1	Q9UPY3	p.Arg746Gly	RCV000240921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111337T>C	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000240962	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000494492	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000240899	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330insTAGT	ClinVar
DICER1	Q9UPY3	p.Cys748TerLeuUnk	rs886037688	stop gained	-	NC_000014.9:g.95111329_95111330insTAGT	-
DICER1	Q9UPY3	p.Cys748Ter	rs886037687	stop gained	-	NC_000014.9:g.95111329_95111330delinsTT	-
DICER1	Q9UPY3	p.Tyr749Ter	RCV000480985	nonsense	-	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	RCV000240935	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	RCV000493504	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Phe	RCV000556009	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111327T>A	ClinVar
DICER1	Q9UPY3	p.Tyr749Phe	rs1309961626	missense variant	-	NC_000014.9:g.95111327T>A	TOPMed
DICER1	Q9UPY3	p.Tyr749Ter	rs886037689	stop gained	-	NC_000014.9:g.95111326G>T	-
DICER1	Q9UPY3	p.Pro750Ter	RCV000541292	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326_95111329dup	ClinVar
DICER1	Q9UPY3	p.Pro750Arg	RCV000226942	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111324G>C	ClinVar
DICER1	Q9UPY3	p.Pro750Arg	rs878855249	missense variant	-	NC_000014.9:g.95111324G>C	-
DICER1	Q9UPY3	p.Glu755Lys	RCV000561928	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108497C>T	ClinVar
DICER1	Q9UPY3	p.Glu755Lys	rs1555370957	missense variant	-	NC_000014.9:g.95108497C>T	-
DICER1	Q9UPY3	p.Leu757Val	RCV000654402	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108491A>C	ClinVar
DICER1	Q9UPY3	p.Leu757Val	rs1555370956	missense variant	-	NC_000014.9:g.95108491A>C	-
DICER1	Q9UPY3	p.Asp759Val	rs1288856698	missense variant	-	NC_000014.9:g.95108484T>A	TOPMed
DICER1	Q9UPY3	p.Ser760Asn	RCV000471625	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108481C>T	ClinVar
DICER1	Q9UPY3	p.Ser760Arg	rs761639070	missense variant	-	NC_000014.9:g.95108482T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser760Asn	rs1060503621	missense variant	-	NC_000014.9:g.95108481C>T	-
DICER1	Q9UPY3	p.Arg763Thr	rs774344152	missense variant	-	NC_000014.9:g.95108472C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg763Thr	RCV000544525	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108472C>G	ClinVar
DICER1	Q9UPY3	p.Gln766Arg	rs940468676	missense variant	-	NC_000014.9:g.95108463T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro767Ser	rs1283309784	missense variant	-	NC_000014.9:g.95108461G>A	TOPMed
DICER1	Q9UPY3	p.Pro767His	rs764001016	missense variant	-	NC_000014.9:g.95108460G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr769Ter	rs776530416	stop gained	-	NC_000014.9:g.95108453G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Val776Gly	rs1060503618	missense variant	-	NC_000014.9:g.95108433A>C	-
DICER1	Q9UPY3	p.Val776Gly	RCV000463888	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108433A>C	ClinVar
DICER1	Q9UPY3	p.Thr779Ala	RCV000543737	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108425T>C	ClinVar
DICER1	Q9UPY3	p.Thr779Ala	rs1555370931	missense variant	-	NC_000014.9:g.95108425T>C	-
DICER1	Q9UPY3	p.Glu784Ter	RCV000493374	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108410C>A	ClinVar
DICER1	Q9UPY3	p.Glu784Ter	rs1131691210	stop gained	-	NC_000014.9:g.95108410C>A	-
DICER1	Q9UPY3	p.Phe787Leu	rs367950170	missense variant	-	NC_000014.9:g.95108399A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg789Lys	RCV000703508	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108394C>T	ClinVar
DICER1	Q9UPY3	p.Arg790Gln	rs762784970	missense variant	-	NC_000014.9:g.95108391C>T	-
DICER1	Q9UPY3	p.Lys791Arg	rs748518606	missense variant	-	NC_000014.9:g.95108388T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu792Ter	RCV000654467	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108388_95108391dup	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	RCV000566994	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108382T>C	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	RCV000463608	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108382T>C	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	rs527568726	missense variant	-	NC_000014.9:g.95108382T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro794Ser	RCV000462319	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108380G>A	ClinVar
DICER1	Q9UPY3	p.Pro794Ser	rs1060503620	missense variant	-	NC_000014.9:g.95108380G>A	-
DICER1	Q9UPY3	p.Asp797Gly	rs755375348	missense variant	-	NC_000014.9:g.95108370T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp797Gly	RCV000563012	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108370T>C	ClinVar
DICER1	Q9UPY3	p.Asp797Gly	RCV000546389	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108370T>C	ClinVar
DICER1	Q9UPY3	p.del798del	RCV000240963	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Thr798Ter	RCV000240963	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Thr798Ala	rs1191387730	missense variant	-	NC_000014.9:g.95108368T>C	gnomAD
DICER1	Q9UPY3	p.Thr798Ter	RCV000493145	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.del798del	RCV000493145	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Arg800Gly	RCV000564417	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108362T>C	ClinVar
DICER1	Q9UPY3	p.Arg800Ter	RCV000493596	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108361del	ClinVar
DICER1	Q9UPY3	p.Arg800Gly	rs1555370905	missense variant	-	NC_000014.9:g.95108362T>C	-
DICER1	Q9UPY3	p.Cys801Gly	RCV000463309	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108359A>C	ClinVar
DICER1	Q9UPY3	p.Cys801Gly	rs1060503599	missense variant	-	NC_000014.9:g.95108359A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr806Met	RCV000467724	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108343G>A	ClinVar
DICER1	Q9UPY3	p.Thr806Met	rs749834289	missense variant	-	NC_000014.9:g.95108343G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys808Ile	rs1232785791	missense variant	-	NC_000014.9:g.95108337T>A	gnomAD
DICER1	Q9UPY3	p.Ile810Val	RCV000566847	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108332T>C	ClinVar
DICER1	Q9UPY3	p.Ile810Val	rs1555370881	missense variant	-	NC_000014.9:g.95108332T>C	-
DICER1	Q9UPY3	p.Gln812Arg	RCV000556511	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108325T>C	ClinVar
DICER1	Q9UPY3	p.Gln812Arg	rs750049051	missense variant	-	NC_000014.9:g.95108325T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln812Pro	rs750049051	missense variant	-	NC_000014.9:g.95108325T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile813Val	rs1354652606	missense variant	-	NC_000014.9:g.95108093T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro817Ala	rs774540239	missense variant	-	NC_000014.9:g.95108081G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr819His	RCV000562879	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108075A>G	ClinVar
DICER1	Q9UPY3	p.Tyr819His	rs1238286921	missense variant	-	NC_000014.9:g.95108075A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr826Ala	rs1328529319	missense variant	-	NC_000014.9:g.95108054T>C	TOPMed
DICER1	Q9UPY3	p.Ile829Val	RCV000654368	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108045T>C	ClinVar
DICER1	Q9UPY3	p.Ile829Thr	RCV000654378	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108044A>G	ClinVar
DICER1	Q9UPY3	p.Ile829Val	rs1038939677	missense variant	-	NC_000014.9:g.95108045T>C	TOPMed
DICER1	Q9UPY3	p.Ile829Thr	rs1555370828	missense variant	-	NC_000014.9:g.95108044A>G	-
DICER1	Q9UPY3	p.Lys832Glu	RCV000765198	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
DICER1	Q9UPY3	p.Lys832Glu	RCV000465553	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
DICER1	Q9UPY3	p.Lys832Asn	RCV000340356	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95108034C>G	ClinVar
DICER1	Q9UPY3	p.Lys832Arg	rs780581268	missense variant	-	NC_000014.9:g.95108035T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys832Asn	rs769292296	missense variant	-	NC_000014.9:g.95108034C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys832Glu	rs1060503613	missense variant	-	NC_000014.9:g.95108036T>C	-
DICER1	Q9UPY3	p.Phe836Ter	RCV000476393	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108022_95108023del	ClinVar
DICER1	Q9UPY3	p.Phe836Val	RCV000689913	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108024A>C	ClinVar
DICER1	Q9UPY3	p.Met837Ile	rs1360646143	missense variant	-	NC_000014.9:g.95108019C>A	gnomAD
DICER1	Q9UPY3	p.Leu838Val	rs745444772	missense variant	-	NC_000014.9:g.95108018A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser839Phe	RCV000023526	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	ClinVar
DICER1	Q9UPY3	p.Ser839Phe	rs387906934	missense variant	-	NC_000014.9:g.95108014G>A	-
DICER1	Q9UPY3	p.Ser839Phe	rs387906934	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt,dbSNP
DICER1	Q9UPY3	p.Ser839Phe	VAR_065301	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt
DICER1	Q9UPY3	p.Gln841Arg	RCV000706036	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108008T>C	ClinVar
DICER1	Q9UPY3	p.Gln841Arg	rs1417502290	missense variant	-	NC_000014.9:g.95108008T>C	gnomAD
DICER1	Q9UPY3	p.Leu843Phe	RCV000561754	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108003G>A	ClinVar
DICER1	Q9UPY3	p.Leu843Phe	rs1555370815	missense variant	-	NC_000014.9:g.95108003G>A	-
DICER1	Q9UPY3	p.Leu845Val	RCV000654374	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107997A>C	ClinVar
DICER1	Q9UPY3	p.Leu845Val	rs1182299033	missense variant	-	NC_000014.9:g.95107997A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile846Val	RCV000765197	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	RCV000566427	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	RCV000560280	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	rs201212908	missense variant	-	NC_000014.9:g.95107994T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr847Ala	RCV000462537	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107991T>C	ClinVar
DICER1	Q9UPY3	p.Thr847Ala	rs1060503641	missense variant	-	NC_000014.9:g.95107991T>C	-
DICER1	Q9UPY3	p.Tyr852Cys	RCV000562908	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107975T>C	ClinVar
DICER1	Q9UPY3	p.Tyr852Cys	rs1555370802	missense variant	-	NC_000014.9:g.95107975T>C	-
DICER1	Q9UPY3	p.Ile853Val	RCV000563365	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107973T>C	ClinVar
DICER1	Q9UPY3	p.Ile853Val	rs61729795	missense variant	-	NC_000014.9:g.95107973T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe854Leu	RCV000654423	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107968G>T	ClinVar
DICER1	Q9UPY3	p.Phe854Leu	rs1555370794	missense variant	-	NC_000014.9:g.95107968G>T	-
DICER1	Q9UPY3	p.Ile857Val	rs567006441	missense variant	-	NC_000014.9:g.95107961T>C	gnomAD
DICER1	Q9UPY3	p.Ile857Thr	rs1290998883	missense variant	-	NC_000014.9:g.95107960A>G	gnomAD
DICER1	Q9UPY3	p.Arg859Gln	rs765333464	missense variant	-	NC_000014.9:g.95107954C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg859Trp	rs144649926	missense variant	-	NC_000014.9:g.95107955G>A	ESP,gnomAD
DICER1	Q9UPY3	p.Arg859Trp	RCV000231736	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107955G>A	ClinVar
DICER1	Q9UPY3	p.Thr870Ala	RCV000686840	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107922T>C	ClinVar
DICER1	Q9UPY3	p.Asp871Val	RCV000528728	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107918T>A	ClinVar
DICER1	Q9UPY3	p.Asp871Glu	rs759827733	missense variant	-	NC_000014.9:g.95107917G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp871Val	rs1555370776	missense variant	-	NC_000014.9:g.95107918T>A	-
DICER1	Q9UPY3	p.Ala872Thr	RCV000226630	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107916C>T	ClinVar
DICER1	Q9UPY3	p.Ala872Thr	rs149242330	missense variant	-	NC_000014.9:g.95107916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp873Gly	RCV000538878	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107912T>C	ClinVar
DICER1	Q9UPY3	p.Asp873His	RCV000570993	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107913C>G	ClinVar
DICER1	Q9UPY3	p.Asp873Gly	rs1555370765	missense variant	-	NC_000014.9:g.95107912T>C	-
DICER1	Q9UPY3	p.Asp873His	rs774672421	missense variant	-	NC_000014.9:g.95107913C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp873His	RCV000477212	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107913C>G	ClinVar
DICER1	Q9UPY3	p.Ala875Ser	RCV000549111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107907C>A	ClinVar
DICER1	Q9UPY3	p.Ala875Ser	rs1555370761	missense variant	-	NC_000014.9:g.95107907C>A	-
DICER1	Q9UPY3	p.Tyr876Cys	rs1165182865	missense variant	-	NC_000014.9:g.95107903T>C	gnomAD
DICER1	Q9UPY3	p.Cys877Ser	rs1411395826	missense variant	-	NC_000014.9:g.95107901A>T	gnomAD
DICER1	Q9UPY3	p.Pro880Leu	rs1456764595	missense variant	-	NC_000014.9:g.95107891G>A	TOPMed
DICER1	Q9UPY3	p.Leu881Val	rs1293281390	missense variant	-	NC_000014.9:g.95107889G>C	TOPMed
DICER1	Q9UPY3	p.Asn882Asp	RCV000693049	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107886T>C	ClinVar
DICER1	Q9UPY3	p.Val883Ile	RCV000654399	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107883C>T	ClinVar
DICER1	Q9UPY3	p.Val883Ile	rs1407338094	missense variant	-	NC_000014.9:g.95107883C>T	TOPMed
DICER1	Q9UPY3	p.Val883Ala	rs1164049706	missense variant	-	NC_000014.9:g.95107882A>G	gnomAD
DICER1	Q9UPY3	p.Ser887Phe	RCV000542681	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>A	ClinVar
DICER1	Q9UPY3	p.Ser887Pro	RCV000228429	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107753A>G	ClinVar
DICER1	Q9UPY3	p.Ser887Pro	rs878855251	missense variant	-	NC_000014.9:g.95107753A>G	TOPMed
DICER1	Q9UPY3	p.Ser887Phe	rs139441077	missense variant	-	NC_000014.9:g.95107752G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser887Phe	RCV000575011	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107752G>A	ClinVar
DICER1	Q9UPY3	p.Ser887Tyr	rs139441077	missense variant	-	NC_000014.9:g.95107752G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser887Tyr	RCV000654456	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>T	ClinVar
DICER1	Q9UPY3	p.Asp891Gly	rs1228272276	missense variant	-	NC_000014.9:g.95107740T>C	gnomAD
DICER1	Q9UPY3	p.Phe894Leu	RCV000552892	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107730A>C	ClinVar
DICER1	Q9UPY3	p.Phe894Leu	rs760009604	missense variant	-	NC_000014.9:g.95107730A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met897Val	RCV000458127	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107723T>C	ClinVar
DICER1	Q9UPY3	p.Met897Val	rs373729361	missense variant	-	NC_000014.9:g.95107723T>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ile900Thr	rs777174247	missense variant	-	NC_000014.9:g.95107713A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile900Leu	rs1302387713	missense variant	-	NC_000014.9:g.95107714T>G	gnomAD
DICER1	Q9UPY3	p.Lys902Glu	rs1402233762	missense variant	-	NC_000014.9:g.95107708T>C	gnomAD
DICER1	Q9UPY3	p.Lys902Arg	rs1377401799	missense variant	-	NC_000014.9:g.95107707T>C	gnomAD
DICER1	Q9UPY3	p.Arg906His	RCV000232332	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>T	ClinVar
DICER1	Q9UPY3	p.Arg906Cys	rs770335698	missense variant	-	NC_000014.9:g.95107696G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906Leu	RCV000531168	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>A	ClinVar
DICER1	Q9UPY3	p.Arg906Leu	rs150510758	missense variant	-	NC_000014.9:g.95107695C>A	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906His	rs150510758	missense variant	-	NC_000014.9:g.95107695C>T	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906Cys	RCV000654400	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107696G>A	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000574505	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000472819	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000761114	missense variant	Acute megakaryoblastic leukemia	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Leu	rs1178414622	missense variant	-	NC_000014.9:g.95107693T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Thr	rs200408568	missense variant	-	NC_000014.9:g.95107692A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Val	rs1178414622	missense variant	-	NC_000014.9:g.95107693T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Arg	rs200408568	missense variant	-	NC_000014.9:g.95107692A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile909Val	RCV000697264	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107687T>C	ClinVar
DICER1	Q9UPY3	p.Ile909Val	rs1167073557	missense variant	-	NC_000014.9:g.95107687T>C	TOPMed
DICER1	Q9UPY3	p.Ser911Asn	RCV000555481	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107680C>T	ClinVar
DICER1	Q9UPY3	p.Ser911Asn	rs771697618	missense variant	-	NC_000014.9:g.95107680C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys913Thr	RCV000472190	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107674T>G	ClinVar
DICER1	Q9UPY3	p.Lys913Thr	rs1060503649	missense variant	-	NC_000014.9:g.95107674T>G	gnomAD
DICER1	Q9UPY3	p.Lys913Arg	rs1060503649	missense variant	-	NC_000014.9:g.95107674T>C	gnomAD
DICER1	Q9UPY3	p.Tyr914Cys	RCV000699754	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107671T>C	ClinVar
DICER1	Q9UPY3	p.Thr915Ala	RCV000529269	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107669T>C	ClinVar
DICER1	Q9UPY3	p.Thr915Ala	rs1179517249	missense variant	-	NC_000014.9:g.95107669T>C	gnomAD
DICER1	Q9UPY3	p.Lys916Thr	rs747825442	missense variant	-	NC_000014.9:g.95107665T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu917Ter	RCV000494012	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.del917del	RCV000494012	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.del917del	RCV000240925	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.Glu917Ter	RCV000240925	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.Glu917Ter	rs886037692	stop gained	-	NC_000014.9:g.95107663C>A	-
DICER1	Q9UPY3	p.Thr918Ser	RCV000572375	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107660T>A	ClinVar
DICER1	Q9UPY3	p.Thr918Ser	rs377326167	missense variant	-	NC_000014.9:g.95107660T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr918Ser	RCV000229873	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107660T>A	ClinVar
DICER1	Q9UPY3	p.Thr918Ala	rs377326167	missense variant	-	NC_000014.9:g.95107660T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys923Gln	rs1357513890	missense variant	-	NC_000014.9:g.95107645T>G	TOPMed
DICER1	Q9UPY3	p.Asp926His	RCV000460548	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107636C>G	ClinVar
DICER1	Q9UPY3	p.Asp926His	rs1060503645	missense variant	-	NC_000014.9:g.95107636C>G	-
DICER1	Q9UPY3	p.Val931Ile	rs1256068472	missense variant	-	NC_000014.9:g.95107621C>T	gnomAD
DICER1	Q9UPY3	p.Pro934Leu	rs1211667485	missense variant	-	NC_000014.9:g.95107611G>A	gnomAD
DICER1	Q9UPY3	p.Arg935Lys	rs757277030	missense variant	-	NC_000014.9:g.95107608C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg937Cys	rs1354833117	missense variant	-	NC_000014.9:g.95106219G>A	gnomAD
DICER1	Q9UPY3	p.Gln941Glu	RCV000467203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106207G>C	ClinVar
DICER1	Q9UPY3	p.Gln941Glu	rs1060503588	missense variant	-	NC_000014.9:g.95106207G>C	-
DICER1	Q9UPY3	p.Arg944Gln	RCV000654383	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106197C>T	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	RCV000240862	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	RCV000004727	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	RCV000493701	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	rs137852978	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95106198G>A	-
DICER1	Q9UPY3	p.Arg944Gln	rs1555370340	missense variant	-	NC_000014.9:g.95106197C>T	-
DICER1	Q9UPY3	p.Thr952Ser	RCV000566505	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106174T>A	ClinVar
DICER1	Q9UPY3	p.Thr952Ala	RCV000467314	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106174T>C	ClinVar
DICER1	Q9UPY3	p.Thr952Ala	rs1060503636	missense variant	-	NC_000014.9:g.95106174T>C	TOPMed
DICER1	Q9UPY3	p.Thr952Ser	rs1060503636	missense variant	-	NC_000014.9:g.95106174T>A	TOPMed
DICER1	Q9UPY3	p.Asp953Asn	rs745810853	missense variant	-	NC_000014.9:g.95106171C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu954Phe	rs1458698147	missense variant	-	NC_000014.9:g.95106168G>A	gnomAD
DICER1	Q9UPY3	p.del955del	RCV000240900	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
DICER1	Q9UPY3	p.Thr955Ter	RCV000240900	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
DICER1	Q9UPY3	p.Thr955Ile	rs1167965153	missense variant	-	NC_000014.9:g.95106164G>A	TOPMed
DICER1	Q9UPY3	p.del956del	RCV000240927	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
DICER1	Q9UPY3	p.Pro956Ter	RCV000240927	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
DICER1	Q9UPY3	p.Leu957Phe	RCV000466824	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159G>A	ClinVar
DICER1	Q9UPY3	p.Leu957Phe	rs1060503634	missense variant	-	NC_000014.9:g.95106159G>A	-
DICER1	Q9UPY3	p.Ser958Gly	RCV000226550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106156T>C	ClinVar
DICER1	Q9UPY3	p.Ser958Gly	RCV000562549	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106156T>C	ClinVar
DICER1	Q9UPY3	p.Ser958Gly	rs752905540	missense variant	-	NC_000014.9:g.95106156T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro963Ter	RCV000240864	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.del963del	RCV000240864	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.del963del	RCV000494157	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.Pro963Ter	RCV000494157	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.Pro963Leu	rs917082902	missense variant	-	NC_000014.9:g.95106140G>A	TOPMed
DICER1	Q9UPY3	p.Ala969Val	RCV000233100	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106122G>A	ClinVar
DICER1	Q9UPY3	p.Ala969Val	rs878855253	missense variant	-	NC_000014.9:g.95106122G>A	-
DICER1	Q9UPY3	p.Glu970Gln	RCV000572780	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106120C>G	ClinVar
DICER1	Q9UPY3	p.Glu970Gln	rs1555370302	missense variant	-	NC_000014.9:g.95106120C>G	-
DICER1	Q9UPY3	p.Lys973Asn	RCV000533030	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106109T>G	ClinVar
DICER1	Q9UPY3	p.Lys973Asn	rs1555370297	missense variant	-	NC_000014.9:g.95106109T>G	-
DICER1	Q9UPY3	p.Asn977Ser	rs1227283210	missense variant	-	NC_000014.9:g.95106098T>C	TOPMed
DICER1	Q9UPY3	p.Asn982Lys	RCV000462016	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106082A>T	ClinVar
DICER1	Q9UPY3	p.Asn982Ser	RCV000696284	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106083T>C	ClinVar
DICER1	Q9UPY3	p.Asn982Ser	rs1376668585	missense variant	-	NC_000014.9:g.95106083T>C	gnomAD
DICER1	Q9UPY3	p.Asn982Lys	rs1060503631	missense variant	-	NC_000014.9:g.95106082A>T	-
DICER1	Q9UPY3	p.Leu983Pro	rs766675570	missense variant	-	NC_000014.9:g.95106080A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu983Val	rs1267003109	missense variant	-	NC_000014.9:g.95106081G>C	gnomAD
DICER1	Q9UPY3	p.Leu983Phe	rs1267003109	missense variant	-	NC_000014.9:g.95106081G>A	gnomAD
DICER1	Q9UPY3	p.Leu983Arg	rs766675570	missense variant	-	NC_000014.9:g.95106080A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn984Ser	RCV000465498	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106077T>C	ClinVar
DICER1	Q9UPY3	p.Asn984Ser	RCV000563512	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106077T>C	ClinVar
DICER1	Q9UPY3	p.Asn984Ser	rs750932552	missense variant	-	NC_000014.9:g.95106077T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn984Thr	rs750932552	missense variant	-	NC_000014.9:g.95106077T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln985Ter	RCV000654466	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106073delinsAA	ClinVar
DICER1	Q9UPY3	p.Gln985Ter	RCV000468167	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106076del	ClinVar
DICER1	Q9UPY3	p.Val990Met	rs1443445976	missense variant	-	NC_000014.9:g.95106060C>T	gnomAD
DICER1	Q9UPY3	p.Thr1001Ile	rs756484303	missense variant	-	NC_000014.9:g.95105769G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1003Ter	RCV000465236	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105764G>A	ClinVar
DICER1	Q9UPY3	p.Arg1003Ter	RCV000851456	nonsense	-	NC_000014.9:g.95105764G>A	ClinVar
DICER1	Q9UPY3	p.Arg1003Ter	rs1060503605	stop gained	-	NC_000014.9:g.95105764G>A	gnomAD
DICER1	Q9UPY3	p.Gln1007Ter	RCV000492911	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105752G>A	ClinVar
DICER1	Q9UPY3	p.Gln1007Ter	RCV000524088	nonsense	-	NC_000014.9:g.95105752G>A	ClinVar
DICER1	Q9UPY3	p.Gln1007Ter	rs1131691189	stop gained	-	NC_000014.9:g.95105752G>A	-
DICER1	Q9UPY3	p.Lys1008Asn	rs750927764	missense variant	-	NC_000014.9:g.95105747C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1011Val	rs772243498	missense variant	-	NC_000014.9:g.95105739G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1011Val	RCV000654436	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105739G>A	ClinVar
DICER1	Q9UPY3	p.Ser1016Asn	RCV000689357	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105724C>T	ClinVar
DICER1	Q9UPY3	p.Lys1023Arg	rs762411266	missense variant	-	NC_000014.9:g.95105703T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Trp1024Leu	rs751053813	missense variant	-	NC_000014.9:g.95105700C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1025Gly	RCV000537842	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105697T>C	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	RCV000521958	nonsense	-	NC_000014.9:g.95105698C>A	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	RCV000493873	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105698C>A	ClinVar
DICER1	Q9UPY3	p.Glu1025Gly	rs1191384264	missense variant	-	NC_000014.9:g.95105697T>C	gnomAD
DICER1	Q9UPY3	p.Glu1025Ter	rs1131691225	stop gained	-	NC_000014.9:g.95105698C>A	-
DICER1	Q9UPY3	p.Ser1026Gly	rs763715930	missense variant	-	NC_000014.9:g.95105695T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1036Lys	rs749392411	missense variant	-	NC_000014.9:g.95105234C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1040Val	RCV000497463	missense variant	-	NC_000014.9:g.95105222T>C	ClinVar
DICER1	Q9UPY3	p.Ile1040Val	RCV000685635	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105222T>C	ClinVar
DICER1	Q9UPY3	p.Ile1040Met	rs1195908211	missense variant	-	NC_000014.9:g.95105220T>C	TOPMed
DICER1	Q9UPY3	p.Ile1040Val	rs1555370052	missense variant	-	NC_000014.9:g.95105222T>C	-
DICER1	Q9UPY3	p.Pro1042Ser	RCV000561799	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105216G>A	ClinVar
DICER1	Q9UPY3	p.Pro1042Ser	rs1555370050	missense variant	-	NC_000014.9:g.95105216G>A	-
DICER1	Q9UPY3	p.Ile1043Val	RCV000465152	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105213T>C	ClinVar
DICER1	Q9UPY3	p.Ile1043Val	RCV000564082	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105213T>C	ClinVar
DICER1	Q9UPY3	p.Ile1043Val	rs1060503592	missense variant	-	NC_000014.9:g.95105213T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1045Pro	rs878855255	missense variant	-	NC_000014.9:g.95105207C>G	-
DICER1	Q9UPY3	p.Ala1045Pro	RCV000230898	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105207C>G	ClinVar
DICER1	Q9UPY3	p.del1046del	RCV000240905	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
DICER1	Q9UPY3	p.Ser1046Ter	RCV000240905	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
DICER1	Q9UPY3	p.Leu1054Pro	RCV000691310	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105179A>G	ClinVar
DICER1	Q9UPY3	p.Pro1055Leu	rs1413756805	missense variant	-	NC_000014.9:g.95105176G>A	gnomAD
DICER1	Q9UPY3	p.Ile1057Met	rs976698124	missense variant	-	NC_000014.9:g.95105169T>C	TOPMed
DICER1	Q9UPY3	p.Ile1057Val	rs769846317	missense variant	-	NC_000014.9:g.95105171T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1058Ile	RCV000558190	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105168G>T	ClinVar
DICER1	Q9UPY3	p.Leu1058Ile	rs1555370024	missense variant	-	NC_000014.9:g.95105168G>T	-
DICER1	Q9UPY3	p.Tyr1059Ter	RCV000240943	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105167dup	ClinVar
DICER1	Q9UPY3	p.Arg1060Leu	RCV000687493	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105161C>A	ClinVar
DICER1	Q9UPY3	p.Arg1060Cys	RCV000498545	missense variant	-	NC_000014.9:g.95105162G>A	ClinVar
DICER1	Q9UPY3	p.Arg1060Cys	rs1555370020	missense variant	-	NC_000014.9:g.95105162G>A	-
DICER1	Q9UPY3	p.His1062Arg	rs1398724408	missense variant	-	NC_000014.9:g.95105155T>C	TOPMed
DICER1	Q9UPY3	p.Thr1066Ile	rs1313061695	missense variant	-	NC_000014.9:g.95105143G>A	gnomAD
DICER1	Q9UPY3	p.Ala1067Thr	rs1385079711	missense variant	-	NC_000014.9:g.95105141C>T	gnomAD
DICER1	Q9UPY3	p.Thr1074Ile	RCV000472928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105119G>A	ClinVar
DICER1	Q9UPY3	p.Thr1074Ile	rs1060503653	missense variant	-	NC_000014.9:g.95105119G>A	-
DICER1	Q9UPY3	p.Ser1076Asn	RCV000476968	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105113C>T	ClinVar
DICER1	Q9UPY3	p.Ser1076Arg	RCV000569044	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105112G>T	ClinVar
DICER1	Q9UPY3	p.Ser1076Arg	rs867768809	missense variant	-	NC_000014.9:g.95105112G>T	-
DICER1	Q9UPY3	p.Ser1076Asn	rs778494781	missense variant	-	NC_000014.9:g.95105113C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1077Asn	RCV000654460	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105111C>T	ClinVar
DICER1	Q9UPY3	p.Asp1077His	rs373412959	missense variant	-	NC_000014.9:g.95105111C>G	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1077Asn	rs373412959	missense variant	-	NC_000014.9:g.95105111C>T	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1078Ser	rs1488726216	missense variant	-	NC_000014.9:g.95105108C>A	gnomAD
DICER1	Q9UPY3	p.Arg1083Ser	RCV000654421	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105091T>A	ClinVar
DICER1	Q9UPY3	p.Arg1083Thr	rs1060503616	missense variant	-	NC_000014.9:g.95105092C>G	-
DICER1	Q9UPY3	p.Arg1083Thr	RCV000459111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105092C>G	ClinVar
DICER1	Q9UPY3	p.Arg1083Ser	rs1291112028	missense variant	-	NC_000014.9:g.95105091T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Gly	RCV000525561	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>C	ClinVar
DICER1	Q9UPY3	p.Ala1087Val	RCV000572177	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>A	ClinVar
DICER1	Q9UPY3	p.Ala1087Val	RCV000471385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>A	ClinVar
DICER1	Q9UPY3	p.Ala1087Glu	RCV000551807	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>T	ClinVar
DICER1	Q9UPY3	p.Ala1087Gly	RCV000561162	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>C	ClinVar
DICER1	Q9UPY3	p.Ala1087Glu	rs180918578	missense variant	-	NC_000014.9:g.95105080G>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Val	rs180918578	missense variant	-	NC_000014.9:g.95105080G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Gly	rs180918578	missense variant	-	NC_000014.9:g.95105080G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1088Glu	rs376110719	missense variant	-	NC_000014.9:g.95105076A>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1091Phe	RCV000540270	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104124T>A	ClinVar
DICER1	Q9UPY3	p.Tyr1091Ter	RCV000240881	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104123G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1091Phe	rs1442769827	missense variant	-	NC_000014.9:g.95104124T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1091Ter	RCV000851457	nonsense	-	NC_000014.9:g.95104123G>C	ClinVar
DICER1	Q9UPY3	p.Pro1092Ter	RCV000493882	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Pro1092Ter	RCV000240906	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Pro1092Arg	rs1196047547	missense variant	-	NC_000014.9:g.95104121G>C	TOPMed
DICER1	Q9UPY3	p.del1093del	RCV000493882	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.del1093del	RCV000240906	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Gly1097Val	RCV000706333	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104106C>A	ClinVar
DICER1	Q9UPY3	p.Gly1097Arg	rs1466088737	missense variant	-	NC_000014.9:g.95104107C>T	gnomAD
DICER1	Q9UPY3	p.Lys1099Glu	RCV000695400	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101T>C	ClinVar
DICER1	Q9UPY3	p.Lys1099Arg	rs1356351330	missense variant	-	NC_000014.9:g.95104100T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1099Arg	RCV000690410	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104100T>C	ClinVar
DICER1	Q9UPY3	p.Lys1100Ter	RCV000493122	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.del1100del	RCV000493122	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.del1100del	RCV000240946	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.Lys1100Ter	RCV000240946	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.Lys1100Asn	rs1417728231	missense variant	-	NC_000014.9:g.95104096T>G	TOPMed
DICER1	Q9UPY3	p.Ser1101Cys	RCV000553084	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104094G>C	ClinVar
DICER1	Q9UPY3	p.Ser1101Cys	rs779748717	missense variant	-	NC_000014.9:g.95104094G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1102Phe	rs750159753	missense variant	-	NC_000014.9:g.95104092T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1102Val	rs750159753	missense variant	-	NC_000014.9:g.95104092T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1103Val	RCV000696513	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104088T>A	ClinVar
DICER1	Q9UPY3	p.Ser1104Arg	RCV000654384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104084G>C	ClinVar
DICER1	Q9UPY3	p.Ser1104Arg	rs1555369738	missense variant	-	NC_000014.9:g.95104084G>C	-
DICER1	Q9UPY3	p.Ser1106Tyr	rs761613375	missense variant	-	NC_000014.9:g.95104079G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1108Val	rs751551790	missense variant	-	NC_000014.9:g.95104074T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1110Val	RCV000697698	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104068T>C	ClinVar
DICER1	Q9UPY3	p.Ile1110Ser	RCV000561530	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104067A>C	ClinVar
DICER1	Q9UPY3	p.Ile1110Ser	rs759760077	missense variant	-	NC_000014.9:g.95104067A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1110Ser	RCV000458245	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104067A>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	RCV000280432	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95104062T>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	RCV000462299	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104062T>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	rs587778229	missense variant	-	NC_000014.9:g.95104062T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1113Tyr	RCV000571981	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104058G>T	ClinVar
DICER1	Q9UPY3	p.Ser1113Tyr	RCV000476785	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104058G>T	ClinVar
DICER1	Q9UPY3	p.Ser1113Tyr	rs143841809	missense variant	-	NC_000014.9:g.95104058G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1113Phe	rs143841809	missense variant	-	NC_000014.9:g.95104058G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1114Cys	rs1278843875	missense variant	-	NC_000014.9:g.95104055G>C	gnomAD
DICER1	Q9UPY3	p.Ser1114Cys	RCV000687116	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104055G>C	ClinVar
DICER1	Q9UPY3	p.Ser1115Ter	rs1255583940	stop gained	-	NC_000014.9:g.95104052G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1116Ter	RCV000493717	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104051dup	ClinVar
DICER1	Q9UPY3	p.Ala1116Asp	rs1236050119	missense variant	-	NC_000014.9:g.95104049G>T	gnomAD
DICER1	Q9UPY3	p.Glu1117Ter	rs1060503617	stop gained	-	NC_000014.9:g.95104047C>A	-
DICER1	Q9UPY3	p.Glu1117Ter	RCV000468408	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104047C>A	ClinVar
DICER1	Q9UPY3	p.Asn1118Ser	rs773410751	missense variant	-	NC_000014.9:g.95104043T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1118Ser	RCV000471510	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104043T>C	ClinVar
DICER1	Q9UPY3	p.Asn1120Ser	RCV000654468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104037T>C	ClinVar
DICER1	Q9UPY3	p.Asn1120Ser	rs1555369701	missense variant	-	NC_000014.9:g.95104037T>C	-
DICER1	Q9UPY3	p.Cys1122Arg	RCV000552304	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104032A>G	ClinVar
DICER1	Q9UPY3	p.Cys1122Arg	rs1555369696	missense variant	-	NC_000014.9:g.95104032A>G	-
DICER1	Q9UPY3	p.His1124Pro	rs534996867	missense variant	-	NC_000014.9:g.95104025T>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1125Asn	RCV000568324	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104022C>T	ClinVar
DICER1	Q9UPY3	p.Ser1125Asn	RCV000234636	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104022C>T	ClinVar
DICER1	Q9UPY3	p.Ser1125Asn	rs748581847	missense variant	-	NC_000014.9:g.95104022C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1126Ala	rs1296404230	missense variant	-	NC_000014.9:g.95104020T>C	gnomAD
DICER1	Q9UPY3	p.Ile1127Ser	RCV000476694	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104016A>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Val	RCV000530594	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104017T>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Ser	RCV000564833	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104016A>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Val	rs779530679	missense variant	-	NC_000014.9:g.95104017T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1127Ser	rs567895583	missense variant	-	NC_000014.9:g.95104016A>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1129Ser	rs1175693367	missense variant	-	NC_000014.9:g.95104011G>A	gnomAD
DICER1	Q9UPY3	p.Glu1130Lys	RCV000654471	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104008C>T	ClinVar
DICER1	Q9UPY3	p.Glu1130Lys	rs1555369685	missense variant	-	NC_000014.9:g.95104008C>T	-
DICER1	Q9UPY3	p.Glu1130Ala	rs748728275	missense variant	-	NC_000014.9:g.95104007T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1131Ser	RCV000468980	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104004T>C	ClinVar
DICER1	Q9UPY3	p.Asn1131Ser	rs200651335	missense variant	-	NC_000014.9:g.95104004T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1133Thr	RCV000563850	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103999C>T	ClinVar
DICER1	Q9UPY3	p.Ala1133Thr	rs1555369675	missense variant	-	NC_000014.9:g.95103999C>T	-
DICER1	Q9UPY3	p.His1134Leu	rs1159674119	missense variant	-	NC_000014.9:g.95103995T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1135Lys	RCV000654377	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103993G>T	ClinVar
DICER1	Q9UPY3	p.Gln1135Lys	rs755711684	missense variant	-	NC_000014.9:g.95103993G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1139Ser	RCV000572785	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103979T>A	ClinVar
DICER1	Q9UPY3	p.Arg1139Ser	RCV000456808	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103979T>A	ClinVar
DICER1	Q9UPY3	p.Arg1139Ser	rs750104632	missense variant	-	NC_000014.9:g.95103979T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1141Phe	RCV000477099	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103974G>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	RCV000570654	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103974G>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	rs780815020	missense variant	-	NC_000014.9:g.95103974G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1142Pro	RCV000699665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103972A>G	ClinVar
DICER1	Q9UPY3	p.Ser1142Pro	rs1257619891	missense variant	-	NC_000014.9:g.95103972A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1142Phe	rs1212563071	missense variant	-	NC_000014.9:g.95103971G>A	gnomAD
DICER1	Q9UPY3	p.Leu1143Pro	RCV000564869	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103968A>G	ClinVar
DICER1	Q9UPY3	p.Leu1143Ile	rs375211466	missense variant	-	NC_000014.9:g.95103969G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1143Pro	rs139786661	missense variant	-	NC_000014.9:g.95103968A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His1146Arg	RCV000686020	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103959T>C	ClinVar
DICER1	Q9UPY3	p.His1146Asp	rs1240541454	missense variant	-	NC_000014.9:g.95103960G>C	gnomAD
DICER1	Q9UPY3	p.Gln1148Arg	rs764029077	missense variant	-	NC_000014.9:g.95103953T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1149Ile	RCV000557215	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103949C>G	ClinVar
DICER1	Q9UPY3	p.Met1149Ile	rs1304695583	missense variant	-	NC_000014.9:g.95103949C>T	gnomAD
DICER1	Q9UPY3	p.Met1149Ile	rs1304695583	missense variant	-	NC_000014.9:g.95103949C>G	gnomAD
DICER1	Q9UPY3	p.Ser1150Phe	RCV000701612	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103947G>A	ClinVar
DICER1	Q9UPY3	p.Val1151Ter	RCV000564921	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103943_95103944CA[1]	ClinVar
DICER1	Q9UPY3	p.Val1151Ala	rs1321219152	missense variant	-	NC_000014.9:g.95103944A>G	TOPMed
DICER1	Q9UPY3	p.Cys1153Gly	RCV000468990	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103939A>C	ClinVar
DICER1	Q9UPY3	p.Cys1153Phe	RCV000654401	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103938C>A	ClinVar
DICER1	Q9UPY3	p.Cys1153Tyr	rs762999390	missense variant	-	NC_000014.9:g.95103938C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Cys1153Phe	rs762999390	missense variant	-	NC_000014.9:g.95103938C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Cys1153Gly	rs1060503607	missense variant	-	NC_000014.9:g.95103939A>C	-
DICER1	Q9UPY3	p.Arg1154Ile	RCV000530978	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103935C>A	ClinVar
DICER1	Q9UPY3	p.Arg1154Ser	RCV000545736	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103934T>G	ClinVar
DICER1	Q9UPY3	p.Arg1154Ser	rs192822778	missense variant	-	NC_000014.9:g.95103934T>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1154Ile	rs1555369626	missense variant	-	NC_000014.9:g.95103935C>A	-
DICER1	Q9UPY3	p.Thr1155Met	rs766598800	missense variant	-	NC_000014.9:g.95103932G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1156Val	RCV000206633	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103930A>C	ClinVar
DICER1	Q9UPY3	p.Leu1156Val	rs760950917	missense variant	-	NC_000014.9:g.95103930A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1158Cys	RCV000654371	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103924T>A	ClinVar
DICER1	Q9UPY3	p.Ser1158Cys	rs949633145	missense variant	-	NC_000014.9:g.95103924T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1159Lys	RCV000654385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103921C>T	ClinVar
DICER1	Q9UPY3	p.Glu1159Gln	rs145693584	missense variant	-	NC_000014.9:g.95103921C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1159Lys	rs145693584	missense variant	-	NC_000014.9:g.95103921C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1160Tyr	RCV000565593	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103917G>T	ClinVar
DICER1	Q9UPY3	p.Ser1160Thr	rs1354557070	missense variant	-	NC_000014.9:g.95103918A>T	TOPMed
DICER1	Q9UPY3	p.Ser1160Tyr	rs774583162	missense variant	-	NC_000014.9:g.95103917G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1160Tyr	RCV000228406	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103917G>T	ClinVar
DICER1	Q9UPY3	p.Pro1161Ser	rs1476564840	missense variant	-	NC_000014.9:g.95103915G>A	gnomAD
DICER1	Q9UPY3	p.Gly1162Ser	rs1287752405	missense variant	-	NC_000014.9:g.95103912C>T	TOPMed
DICER1	Q9UPY3	p.Leu1164His	rs1424957932	missense variant	-	NC_000014.9:g.95103905A>T	gnomAD
DICER1	Q9UPY3	p.His1165Gln	rs372581591	missense variant	-	NC_000014.9:g.95103901G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His1165Gln	rs372581591	missense variant	-	NC_000014.9:g.95103901G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1166Ile	RCV000232173	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103900C>T	ClinVar
DICER1	Q9UPY3	p.Val1166Ile	rs368588781	missense variant	-	NC_000014.9:g.95103900C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1167Asp	RCV000544961	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103895T>A	ClinVar
DICER1	Q9UPY3	p.Glu1167Lys	rs1456267980	missense variant	-	NC_000014.9:g.95103897C>T	TOPMed
DICER1	Q9UPY3	p.Glu1167Lys	RCV000654391	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103897C>T	ClinVar
DICER1	Q9UPY3	p.Ala1170Thr	RCV000706636	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103888C>T	ClinVar
DICER1	Q9UPY3	p.Ala1170Gly	rs1484416477	missense variant	-	NC_000014.9:g.95103887G>C	gnomAD
DICER1	Q9UPY3	p.Asp1171Gly	rs953998753	missense variant	-	NC_000014.9:g.95103884T>C	TOPMed
DICER1	Q9UPY3	p.Leu1172Ile	rs1028179766	missense variant	-	NC_000014.9:g.95103882G>T	TOPMed
DICER1	Q9UPY3	p.Leu1172Ter	RCV000240884	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.del1172del	RCV000494025	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.Leu1172Ter	RCV000494025	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.del1172del	RCV000240884	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.Thr1173Ile	RCV000472462	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103878G>A	ClinVar
DICER1	Q9UPY3	p.Thr1173Lys	rs769329149	missense variant	-	NC_000014.9:g.95103878G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1173Ile	rs769329149	missense variant	-	NC_000014.9:g.95103878G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1176Ser	RCV000537925	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103869T>C	ClinVar
DICER1	Q9UPY3	p.Asn1176Ser	rs1555369577	missense variant	-	NC_000014.9:g.95103869T>C	-
DICER1	Q9UPY3	p.Gly1177Val	RCV000563568	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103866C>A	ClinVar
DICER1	Q9UPY3	p.Gly1177Cys	rs1486689185	missense variant	-	NC_000014.9:g.95103867C>A	gnomAD
DICER1	Q9UPY3	p.Gly1177Val	rs1160985143	missense variant	-	NC_000014.9:g.95103866C>A	TOPMed
DICER1	Q9UPY3	p.Leu1178Phe	RCV000547588	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103864G>A	ClinVar
DICER1	Q9UPY3	p.Leu1178Arg	rs1412362102	missense variant	-	NC_000014.9:g.95103863A>C	TOPMed
DICER1	Q9UPY3	p.Leu1178Phe	rs780952666	missense variant	-	NC_000014.9:g.95103864G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1179Ter	RCV000493223	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103858_95103861AAGA[1]	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	RCV000575641	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103860G>C	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	RCV000464700	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103860G>C	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	rs1060503585	missense variant	-	NC_000014.9:g.95103860G>C	gnomAD
DICER1	Q9UPY3	p.Ser1179Ter	RCV000240923	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
DICER1	Q9UPY3	p.del1179del	RCV000240923	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000240949	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103857_95103858del	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000240887	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000627259	nonsense	-	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	rs886037704	stop gained	-	NC_000014.9:g.95103856G>T	-
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000492848	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103857_95103858del	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000494658	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Asn1183Ser	rs1238231746	missense variant	-	NC_000014.9:g.95103848T>C	gnomAD
DICER1	Q9UPY3	p.Ala1185Thr	RCV000231625	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	RCV000761100	missense variant	Acute myeloid leukemia (AML)	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	RCV000573896	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	rs150514959	missense variant	-	NC_000014.9:g.95103843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1186Ser	RCV000536034	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103839T>C	ClinVar
DICER1	Q9UPY3	p.Asn1186Ile	rs201523588	missense variant	-	NC_000014.9:g.95103839T>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1186Ser	rs201523588	missense variant	-	NC_000014.9:g.95103839T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1187Asp	rs559078811	missense variant	-	NC_000014.9:g.95103836C>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1189Asn	rs1258777784	missense variant	-	NC_000014.9:g.95103831A>T	gnomAD
DICER1	Q9UPY3	p.Leu1191Phe	rs1316149579	missense variant	-	NC_000014.9:g.95103823T>G	gnomAD
DICER1	Q9UPY3	p.Asn1193Ser	RCV000765196	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103818T>C	ClinVar
DICER1	Q9UPY3	p.Asn1193Ter	RCV000240911	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103817_95103818del	ClinVar
DICER1	Q9UPY3	p.Asn1193Asp	rs1383245596	missense variant	-	NC_000014.9:g.95103819T>C	gnomAD
DICER1	Q9UPY3	p.Asn1193Ser	rs1288723916	missense variant	-	NC_000014.9:g.95103818T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1193Ser	RCV000690265	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103818T>C	ClinVar
DICER1	Q9UPY3	p.Arg1194Gly	rs766545351	missense variant	-	NC_000014.9:g.95103816T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1195His	RCV000569208	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103813C>G	ClinVar
DICER1	Q9UPY3	p.Asp1195His	rs1555369546	missense variant	-	NC_000014.9:g.95103813C>G	-
DICER1	Q9UPY3	p.Cys1197Ter	RCV000698895	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103805G>T	ClinVar
DICER1	Q9UPY3	p.del1197del	RCV000240953	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Cys1197Ter	RCV000240953	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.del1197del	RCV000492875	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Cys1197Ter	RCV000492875	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Asn1200Asp	rs966682402	missense variant	-	NC_000014.9:g.95103798T>C	gnomAD
DICER1	Q9UPY3	p.Gln1201Glu	RCV000689751	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103795G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1204Ter	RCV000056333	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103780_95103785delinsA	ClinVar
DICER1	Q9UPY3	p.Lys1206Glu	RCV000386930	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103780T>C	ClinVar
DICER1	Q9UPY3	p.Lys1206Arg	rs761954648	missense variant	-	NC_000014.9:g.95103779T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1206Glu	rs886050942	missense variant	-	NC_000014.9:g.95103780T>C	-
DICER1	Q9UPY3	p.Pro1210Ser	RCV000466992	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103768G>A	ClinVar
DICER1	Q9UPY3	p.Pro1210Ser	RCV000570577	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103768G>A	ClinVar
DICER1	Q9UPY3	p.Pro1210Ser	rs200925349	missense variant	-	NC_000014.9:g.95103768G>A	TOPMed
DICER1	Q9UPY3	p.Val1211Met	RCV000568526	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>T	ClinVar
DICER1	Q9UPY3	p.Val1211Met	RCV000525096	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>T	ClinVar
DICER1	Q9UPY3	p.Val1211Leu	RCV000474677	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>G	ClinVar
DICER1	Q9UPY3	p.Val1211Met	rs764470378	missense variant	-	NC_000014.9:g.95103765C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Leu	rs764470378	missense variant	-	NC_000014.9:g.95103765C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Leu	rs764470378	missense variant	-	NC_000014.9:g.95103765C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Leu	RCV000571532	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>A	ClinVar
DICER1	Q9UPY3	p.Gln1212Pro	RCV000539806	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103761T>G	ClinVar
DICER1	Q9UPY3	p.Gln1212Pro	rs763415569	missense variant	-	NC_000014.9:g.95103761T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1213Ala	RCV000554547	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103759G>C	ClinVar
DICER1	Q9UPY3	p.Pro1213Ala	rs965289045	missense variant	-	NC_000014.9:g.95103759G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1214Ile	RCV000654473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103755G>A	ClinVar
DICER1	Q9UPY3	p.Thr1214Ala	RCV000528300	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103756T>C	ClinVar
DICER1	Q9UPY3	p.Thr1214Ile	rs769277842	missense variant	-	NC_000014.9:g.95103755G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1214Ala	rs776023608	missense variant	-	NC_000014.9:g.95103756T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1214Ala	RCV000570947	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103756T>C	ClinVar
DICER1	Q9UPY3	p.Ser1218Tyr	RCV000706017	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>T	ClinVar
DICER1	Q9UPY3	p.Ser1218Cys	RCV000540029	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>C	ClinVar
DICER1	Q9UPY3	p.Ser1218Cys	rs1197755223	missense variant	-	NC_000014.9:g.95103743G>C	TOPMed
DICER1	Q9UPY3	p.Gln1220Pro	rs776020604	missense variant	-	NC_000014.9:g.95103737T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1220Ter	RCV000240890	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103738G>A	ClinVar
DICER1	Q9UPY3	p.Gln1220Pro	RCV000654404	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103737T>G	ClinVar
DICER1	Q9UPY3	p.Gln1220Arg	rs776020604	missense variant	-	NC_000014.9:g.95103737T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1220Ter	rs886037707	stop gained	-	NC_000014.9:g.95103738G>A	-
DICER1	Q9UPY3	p.Gln1220Ter	RCV000494215	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103738G>A	ClinVar
DICER1	Q9UPY3	p.Tyr1223His	RCV000461690	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103729A>G	ClinVar
DICER1	Q9UPY3	p.Tyr1223His	rs1006671935	missense variant	-	NC_000014.9:g.95103729A>G	-
DICER1	Q9UPY3	p.Ser1224Asn	RCV000554774	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103725C>T	ClinVar
DICER1	Q9UPY3	p.Ser1224Asn	rs1555369495	missense variant	-	NC_000014.9:g.95103725C>T	-
DICER1	Q9UPY3	p.Tyr1225Ter	RCV000494286	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103721G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1225Cys	rs146584765	missense variant	-	NC_000014.9:g.95103722T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1225Cys	RCV000330036	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103722T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1225Ter	rs184830847	stop gained	-	NC_000014.9:g.95103721G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Lys	RCV000569335	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103720C>T	ClinVar
DICER1	Q9UPY3	p.Glu1226Ter	RCV000240916	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
DICER1	Q9UPY3	p.Glu1226Lys	RCV000464309	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>T	ClinVar
DICER1	Q9UPY3	p.del1226del	RCV000240916	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
DICER1	Q9UPY3	p.Glu1226Ala	RCV000823417	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103719T>G	ClinVar
DICER1	Q9UPY3	p.Glu1226Ala	rs779062746	missense variant	-	NC_000014.9:g.95103719T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Ter	rs748087536	stop gained	-	NC_000014.9:g.95103720C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Lys	rs748087536	missense variant	-	NC_000014.9:g.95103720C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Ala	RCV000561188	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103719T>G	ClinVar
DICER1	Q9UPY3	p.Asn1227Lys	RCV000533075	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103715G>T	ClinVar
DICER1	Q9UPY3	p.Asn1227Lys	rs750457254	missense variant	-	NC_000014.9:g.95103715G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1228Ter	RCV000761893	nonsense	-	NC_000014.9:g.95103714G>A	ClinVar
DICER1	Q9UPY3	p.Pro1229Arg	rs1370940293	missense variant	-	NC_000014.9:g.95103710G>C	gnomAD
DICER1	Q9UPY3	p.Gln1230Ter	RCV000699486	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103708G>A	ClinVar
DICER1	Q9UPY3	p.Ser1232Asn	RCV000469516	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103701C>T	ClinVar
DICER1	Q9UPY3	p.Ser1232Asn	rs1060503597	missense variant	-	NC_000014.9:g.95103701C>T	-
DICER1	Q9UPY3	p.Asp1233Asn	RCV000532307	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103699C>T	ClinVar
DICER1	Q9UPY3	p.Asp1233Asn	RCV000564362	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103699C>T	ClinVar
DICER1	Q9UPY3	p.Asp1233Asn	rs1454503348	missense variant	-	NC_000014.9:g.95103699C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Cys1235Tyr	rs1464737401	missense variant	-	NC_000014.9:g.95103692C>T	TOPMed
DICER1	Q9UPY3	p.Leu1237Phe	rs757460313	missense variant	-	NC_000014.9:g.95103687G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1238Pro	RCV000472528	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103683A>G	ClinVar
DICER1	Q9UPY3	p.Leu1238Pro	rs1060503603	missense variant	-	NC_000014.9:g.95103683A>G	-
DICER1	Q9UPY3	p.Ser1239Gly	rs751765488	missense variant	-	NC_000014.9:g.95103681T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1241Arg	RCV000765195	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Lys1241Arg	RCV000567535	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Lys1241Arg	rs764415288	missense variant	-	NC_000014.9:g.95103674T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1241Arg	RCV000547038	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000494497	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000493027	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000240955	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103670G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	rs886037708	stop gained	-	NC_000014.9:g.95103670G>C	gnomAD
DICER1	Q9UPY3	p.Tyr1242Asp	RCV000561586	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103672A>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Asp	rs1273768047	missense variant	-	NC_000014.9:g.95103672A>C	gnomAD
DICER1	Q9UPY3	p.Tyr1242Ter	rs886037708	stop gained	-	NC_000014.9:g.95103670G>T	gnomAD
DICER1	Q9UPY3	p.Leu1243Pro	RCV000562517	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103668A>G	ClinVar
DICER1	Q9UPY3	p.Leu1243Pro	RCV000556615	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103668A>G	ClinVar
DICER1	Q9UPY3	p.Leu1243Pro	rs561584807	missense variant	-	NC_000014.9:g.95103668A>G	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1244His	rs1250903139	missense variant	-	NC_000014.9:g.95103666C>G	gnomAD
DICER1	Q9UPY3	p.Lys1249Arg	RCV000459857	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103650T>C	ClinVar
DICER1	Q9UPY3	p.Lys1249Arg	rs527872690	missense variant	-	NC_000014.9:g.95103650T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1254Glu	rs1440770707	missense variant	-	NC_000014.9:g.95103635C>T	gnomAD
DICER1	Q9UPY3	p.Ser1255Thr	rs199526737	missense variant	-	NC_000014.9:g.95103632C>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val1257Leu	rs1392282413	missense variant	-	NC_000014.9:g.95103627C>A	gnomAD
DICER1	Q9UPY3	p.Met1258Thr	RCV000467810	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103623A>G	ClinVar
DICER1	Q9UPY3	p.Met1258Thr	rs144095207	missense variant	-	NC_000014.9:g.95103623A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1258Ile	rs1392589360	missense variant	-	NC_000014.9:g.95103622C>A	gnomAD
DICER1	Q9UPY3	p.Val1260Ile	RCV000463245	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103618C>T	ClinVar
DICER1	Q9UPY3	p.Val1260Ile	rs763425076	missense variant	-	NC_000014.9:g.95103618C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1260Ter	RCV000240892	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
DICER1	Q9UPY3	p.del1260del	RCV000240892	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
DICER1	Q9UPY3	p.Gly1263Ala	rs771990285	missense variant	-	NC_000014.9:g.95103608C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1263Asp	rs771990285	missense variant	-	NC_000014.9:g.95103608C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1264Met	RCV000459272	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103605G>A	ClinVar
DICER1	Q9UPY3	p.Thr1264Met	rs139346443	missense variant	-	NC_000014.9:g.95103605G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1264Met	RCV000569382	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103605G>A	ClinVar
DICER1	Q9UPY3	p.Asp1266Glu	RCV000699111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103598G>C	ClinVar
DICER1	Q9UPY3	p.Asp1266His	RCV000459002	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103600C>G	ClinVar
DICER1	Q9UPY3	p.Asp1266His	rs1060503654	missense variant	-	NC_000014.9:g.95103600C>G	-
DICER1	Q9UPY3	p.Asp1266Ala	rs368610812	missense variant	-	NC_000014.9:g.95103599T>G	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1266Glu	rs1183908844	missense variant	-	NC_000014.9:g.95103598G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1267Ala	rs953855540	missense variant	-	NC_000014.9:g.95103597T>C	TOPMed
DICER1	Q9UPY3	p.Gln1269Glu	rs1277796753	missense variant	-	NC_000014.9:g.95103591G>C	TOPMed
DICER1	Q9UPY3	p.Val1270Met	RCV000700769	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103588C>T	ClinVar
DICER1	Q9UPY3	p.Leu1271Pro	rs1178292163	missense variant	-	NC_000014.9:g.95103584A>G	gnomAD
DICER1	Q9UPY3	p.Leu1271Phe	rs1249975103	missense variant	-	NC_000014.9:g.95103585G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1271Phe	RCV000702550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103585G>A	ClinVar
DICER1	Q9UPY3	p.Lys1272Asn	RCV000695971	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103580C>G	ClinVar
DICER1	Q9UPY3	p.Lys1272Arg	rs151197809	missense variant	-	NC_000014.9:g.95103581T>C	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1272Arg	RCV000534087	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103581T>C	ClinVar
DICER1	Q9UPY3	p.Arg1274Gly	rs142193936	missense variant	-	NC_000014.9:g.95103576T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1275Val	rs751764482	missense variant	-	NC_000014.9:g.95103573T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1275Val	RCV000561792	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103573T>C	ClinVar
DICER1	Q9UPY3	p.Met1275Val	RCV000225860	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103573T>C	ClinVar
DICER1	Q9UPY3	p.Met1275Ile	rs778033280	missense variant	-	NC_000014.9:g.95103571C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1276Gly	rs758636143	missense variant	-	NC_000014.9:g.95103569T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1276Gly	RCV000472875	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103569T>C	ClinVar
DICER1	Q9UPY3	p.Asp1276Glu	rs753013678	missense variant	-	NC_000014.9:g.95103568A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1280Gly	rs148696745	missense variant	-	NC_000014.9:g.95103558T>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1280Cys	rs148696745	missense variant	-	NC_000014.9:g.95103558T>A	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1280Cys	RCV000654464	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103558T>A	ClinVar
DICER1	Q9UPY3	p.Pro1281Leu	RCV000549005	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103554G>A	ClinVar
DICER1	Q9UPY3	p.Pro1281Leu	rs1306948597	missense variant	-	NC_000014.9:g.95103554G>A	gnomAD
DICER1	Q9UPY3	p.Ile1283Val	RCV000527104	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103549T>C	ClinVar
DICER1	Q9UPY3	p.Ile1283Val	RCV000576059	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103549T>C	ClinVar
DICER1	Q9UPY3	p.Ile1283Val	rs548255758	missense variant	-	NC_000014.9:g.95103549T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1283Thr	rs754352488	missense variant	-	NC_000014.9:g.95103548A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1283Thr	RCV000229624	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103548A>G	ClinVar
DICER1	Q9UPY3	p.Gly1284Ala	RCV000571006	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103545C>G	ClinVar
DICER1	Q9UPY3	p.Gly1284Ala	rs563395930	missense variant	-	NC_000014.9:g.95103545C>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1286Phe	RCV000699923	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103539G>A	ClinVar
DICER1	Q9UPY3	p.Ser1286Ala	rs111495226	missense variant	-	NC_000014.9:g.95103540A>C	TOPMed
DICER1	Q9UPY3	p.Ser1287Ala	rs373980178	missense variant	-	NC_000014.9:g.95103537A>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ser1287Leu	rs1263628434	missense variant	-	NC_000014.9:g.95103536G>A	gnomAD
DICER1	Q9UPY3	p.Leu1290Phe	RCV000456821	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103528G>A	ClinVar
DICER1	Q9UPY3	p.Leu1290Phe	rs1060503650	missense variant	-	NC_000014.9:g.95103528G>A	-
DICER1	Q9UPY3	p.Pro1292Ter	RCV000240929	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
DICER1	Q9UPY3	p.del1292del	RCV000240929	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
DICER1	Q9UPY3	p.Pro1292Thr	rs1415495347	missense variant	-	NC_000014.9:g.95103522G>T	TOPMed
DICER1	Q9UPY3	p.Asn1293Ser	RCV000575772	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103518T>C	ClinVar
DICER1	Q9UPY3	p.Asn1293Ser	rs772855134	missense variant	-	NC_000014.9:g.95103518T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1293Thr	rs772855134	missense variant	-	NC_000014.9:g.95103518T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1293Ser	RCV000537430	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518T>C	ClinVar
DICER1	Q9UPY3	p.Ile1297Thr	RCV000765194	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
DICER1	Q9UPY3	p.Ile1297Thr	rs761578934	missense variant	-	NC_000014.9:g.95103506A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1297Asn	rs761578934	missense variant	-	NC_000014.9:g.95103506A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1297Thr	RCV000654472	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
DICER1	Q9UPY3	p.Ala1300Asp	rs774248214	missense variant	-	NC_000014.9:g.95103497G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1300Thr	rs878855260	missense variant	-	NC_000014.9:g.95103498C>T	-
DICER1	Q9UPY3	p.Ala1300Thr	RCV000233539	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103498C>T	ClinVar
DICER1	Q9UPY3	p.Leu1301Ser	rs1363268262	missense variant	-	NC_000014.9:g.95103494A>G	gnomAD
DICER1	Q9UPY3	p.Leu1303Ter	RCV000056332	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103488_95103489AG[1]	ClinVar
DICER1	Q9UPY3	p.Leu1315Phe	RCV000691665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103453G>A	ClinVar
DICER1	Q9UPY3	p.Leu1315Pro	rs779909779	missense variant	-	NC_000014.9:g.95103452A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1315His	rs779909779	missense variant	-	NC_000014.9:g.95103452A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1316Ter	rs771037069	stop gained	-	NC_000014.9:g.95103450C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1318Phe	RCV000542192	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103444G>A	ClinVar
DICER1	Q9UPY3	p.Leu1318Phe	rs1555369315	missense variant	-	NC_000014.9:g.95103444G>A	-
DICER1	Q9UPY3	p.Asp1320Ter	RCV000697367	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103439dup	ClinVar
DICER1	Q9UPY3	p.Asp1320Ter	RCV000851463	frameshift	-	NC_000014.9:g.95103439dup	ClinVar
DICER1	Q9UPY3	p.Lys1324Ter	rs1273980412	stop gained	-	NC_000014.9:g.95103426T>A	TOPMed
DICER1	Q9UPY3	p.Thr1329Arg	RCV000232820	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103410G>C	ClinVar
DICER1	Q9UPY3	p.Thr1329Arg	rs878855261	missense variant	-	NC_000014.9:g.95103410G>C	-
DICER1	Q9UPY3	p.Tyr1330Ter	RCV000493021	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103406_95103407AT[1]	ClinVar
DICER1	Q9UPY3	p.Thr1334Ile	RCV000526668	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103395G>A	ClinVar
DICER1	Q9UPY3	p.Thr1334Ile	rs1555369296	missense variant	-	NC_000014.9:g.95103395G>A	-
DICER1	Q9UPY3	p.Tyr1335Ter	RCV000227857	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103392dup	ClinVar
DICER1	Q9UPY3	p.Tyr1335Ter	rs878855262	stop gained	-	NC_000014.9:g.95103392dup	-
DICER1	Q9UPY3	p.Tyr1335Ter	rs755357184	stop gained	-	NC_000014.9:g.95103391G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1338Val	RCV000556120	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103383G>A	ClinVar
DICER1	Q9UPY3	p.Ala1338Val	rs766732310	missense variant	-	NC_000014.9:g.95103383G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1342Cys	RCV000477127	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103372G>A	ClinVar
DICER1	Q9UPY3	p.Arg1342Cys	rs776854466	missense variant	-	NC_000014.9:g.95103372G>A	TOPMed
DICER1	Q9UPY3	p.Arg1342His	rs767166092	missense variant	-	NC_000014.9:g.95103371C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1344Ter	RCV000707071	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103365G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1345Ter	rs1323719137	stop gained	-	NC_000014.9:g.95103361A>T	gnomAD
DICER1	Q9UPY3	p.Met1346Val	RCV000691934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103360T>C	ClinVar
DICER1	Q9UPY3	p.Met1346Lys	rs1398853735	missense variant	-	NC_000014.9:g.95103359A>T	gnomAD
DICER1	Q9UPY3	p.Met1346Ile	rs1387749836	missense variant	-	NC_000014.9:g.95103358C>T	gnomAD
DICER1	Q9UPY3	p.Met1346Val	rs1455097358	missense variant	-	NC_000014.9:g.95103360T>C	TOPMed
DICER1	Q9UPY3	p.Arg1347Lys	rs1165606053	missense variant	-	NC_000014.9:g.95103356C>T	gnomAD
DICER1	Q9UPY3	p.Ser1348Ter	RCV000494261	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103352del	ClinVar
DICER1	Q9UPY3	p.Ser1348Arg	rs1415791238	missense variant	-	NC_000014.9:g.95103352G>T	gnomAD
DICER1	Q9UPY3	p.Ser1348Asn	rs1476191950	missense variant	-	NC_000014.9:g.95103353C>T	gnomAD
DICER1	Q9UPY3	p.Lys1350Thr	RCV000569667	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103347T>G	ClinVar
DICER1	Q9UPY3	p.Lys1350Thr	rs1555369270	missense variant	-	NC_000014.9:g.95103347T>G	-
DICER1	Q9UPY3	p.Cys1354Ser	RCV000530034	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099926A>T	ClinVar
DICER1	Q9UPY3	p.Cys1354Ser	rs749559682	missense variant	-	NC_000014.9:g.95099926A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1358Cys	RCV000575051	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099914G>A	ClinVar
DICER1	Q9UPY3	p.Arg1358His	RCV000469750	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099913C>T	ClinVar
DICER1	Q9UPY3	p.Arg1358Ter	RCV000493217	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099915dup	ClinVar
DICER1	Q9UPY3	p.Arg1358Cys	rs1185001854	missense variant	-	NC_000014.9:g.95099914G>A	gnomAD
DICER1	Q9UPY3	p.Arg1358His	rs780488568	missense variant	-	NC_000014.9:g.95099913C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1361Arg	RCV000654429	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099904T>C	ClinVar
DICER1	Q9UPY3	p.Lys1361Arg	rs1555368619	missense variant	-	NC_000014.9:g.95099904T>C	-
DICER1	Q9UPY3	p.Lys1363Ter	RCV000493819	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099906dup	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	RCV000542831	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099895C>G	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	RCV000569409	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099895C>G	ClinVar
DICER1	Q9UPY3	p.Gly1364Arg	rs1196046363	missense variant	-	NC_000014.9:g.95099896C>T	gnomAD
DICER1	Q9UPY3	p.Gly1364Ala	rs1467554488	missense variant	-	NC_000014.9:g.95099895C>G	gnomAD
DICER1	Q9UPY3	p.Leu1365Ile	RCV000557954	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099893G>T	ClinVar
DICER1	Q9UPY3	p.Leu1365Ile	rs1250570322	missense variant	-	NC_000014.9:g.95099893G>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1365Ile	RCV000573313	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099893G>T	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	RCV000230621	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099884G>A	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	RCV000574570	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099884G>A	ClinVar
DICER1	Q9UPY3	p.Arg1368His	RCV000654419	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099883C>T	ClinVar
DICER1	Q9UPY3	p.Arg1368His	rs767112987	missense variant	-	NC_000014.9:g.95099883C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1368Cys	rs752740048	missense variant	-	NC_000014.9:g.95099884G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1368Leu	rs767112987	missense variant	-	NC_000014.9:g.95099883C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1371Met	rs1276560984	missense variant	-	NC_000014.9:g.95099875C>T	TOPMed
DICER1	Q9UPY3	p.Pro1377Ter	RCV000464109	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099860del	ClinVar
DICER1	Q9UPY3	p.Pro1377Ter	RCV000494426	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099860del	ClinVar
DICER1	Q9UPY3	p.Pro1377Ala	rs888888762	missense variant	-	NC_000014.9:g.95099857G>C	TOPMed
DICER1	Q9UPY3	p.Asn1379Tyr	RCV000654410	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099851T>A	ClinVar
DICER1	Q9UPY3	p.Asn1379Tyr	rs1555368579	missense variant	-	NC_000014.9:g.95099851T>A	-
DICER1	Q9UPY3	p.Trp1380Ter	RCV000851415	nonsense	-	NC_000014.9:g.95099846C>T	ClinVar
DICER1	Q9UPY3	p.Trp1380Ter	rs1131691205	stop gained	-	NC_000014.9:g.95099846C>T	-
DICER1	Q9UPY3	p.Pro1382Ser	RCV000701333	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099842G>A	ClinVar
DICER1	Q9UPY3	p.Gly1384Val	RCV000469100	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099835C>A	ClinVar
DICER1	Q9UPY3	p.Gly1384Ala	rs1060503664	missense variant	-	NC_000014.9:g.95099835C>G	gnomAD
DICER1	Q9UPY3	p.Gly1384Val	rs1060503664	missense variant	-	NC_000014.9:g.95099835C>A	gnomAD
DICER1	Q9UPY3	p.Val1386Ile	rs1199615826	missense variant	-	NC_000014.9:g.95099830C>T	TOPMed
DICER1	Q9UPY3	p.Asn1388Asp	RCV000562141	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099824T>C	ClinVar
DICER1	Q9UPY3	p.Asn1388Asp	rs1555368569	missense variant	-	NC_000014.9:g.95099824T>C	-
DICER1	Q9UPY3	p.Ser1392Asn	RCV000654461	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099811C>T	ClinVar
DICER1	Q9UPY3	p.Ser1392Asn	rs751216539	missense variant	-	NC_000014.9:g.95099811C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1392Thr	rs751216539	missense variant	-	NC_000014.9:g.95099811C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1392Arg	rs1425420979	missense variant	-	NC_000014.9:g.95099810G>C	TOPMed
DICER1	Q9UPY3	p.Thr1394Ala	rs763583825	missense variant	-	NC_000014.9:g.95099806T>C	ExAC,TOPMed
DICER1	Q9UPY3	p.Trp1397Ter	RCV000240865	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099796C>T	ClinVar
DICER1	Q9UPY3	p.Trp1397Ter	RCV000493645	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099796C>T	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000575344	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000486377	missense variant	-	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000227035	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	rs762677393	missense variant	-	NC_000014.9:g.95099797A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Trp1397Ter	rs886037711	stop gained	-	NC_000014.9:g.95099796C>T	-
DICER1	Q9UPY3	p.Asp1400Gly	RCV000464861	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099787T>C	ClinVar
DICER1	Q9UPY3	p.Asp1400Glu	RCV000654394	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099786A>T	ClinVar
DICER1	Q9UPY3	p.Asp1400Glu	rs941973586	missense variant	-	NC_000014.9:g.95099786A>T	gnomAD
DICER1	Q9UPY3	p.Asp1400Gly	rs139536688	missense variant	-	NC_000014.9:g.95099787T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1400Gly	RCV000851469	missense variant	-	NC_000014.9:g.95099787T>C	ClinVar
DICER1	Q9UPY3	p.Glu1401Lys	RCV000703015	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099785C>T	ClinVar
DICER1	Q9UPY3	p.Met1402Ile	RCV000539126	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099780C>T	ClinVar
DICER1	Q9UPY3	p.Met1402Ile	rs866519895	missense variant	-	NC_000014.9:g.95099780C>A	gnomAD
DICER1	Q9UPY3	p.Met1402Ile	rs866519895	missense variant	-	NC_000014.9:g.95099780C>T	gnomAD
DICER1	Q9UPY3	p.Met1402Val	rs1356366359	missense variant	-	NC_000014.9:g.95099782T>C	gnomAD
DICER1	Q9UPY3	p.Thr1403Ser	rs147391538	missense variant	-	NC_000014.9:g.95096713T>A	ESP,ExAC,TOPMed
DICER1	Q9UPY3	p.Asp1405Glu	RCV000574723	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096705G>C	ClinVar
DICER1	Q9UPY3	p.Asp1405Glu	RCV000800950	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096705G>C	ClinVar
DICER1	Q9UPY3	p.Asp1405Ter	RCV000654428	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096711del	ClinVar
DICER1	Q9UPY3	p.Asp1405Glu	rs1555367924	missense variant	-	NC_000014.9:g.95096705G>C	-
DICER1	Q9UPY3	p.Cys1406Phe	rs1295287147	missense variant	-	NC_000014.9:g.95096703C>A	gnomAD
DICER1	Q9UPY3	p.Cys1406Phe	RCV000574324	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096703C>A	ClinVar
DICER1	Q9UPY3	p.Cys1406Arg	rs1356179383	missense variant	-	NC_000014.9:g.95096704A>G	gnomAD
DICER1	Q9UPY3	p.Met1407Arg	RCV000541658	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096700A>C	ClinVar
DICER1	Q9UPY3	p.Met1407Arg	RCV000561317	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096700A>C	ClinVar
DICER1	Q9UPY3	p.Met1407Ile	RCV000462665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096699C>A	ClinVar
DICER1	Q9UPY3	p.Met1407Arg	rs1555367920	missense variant	-	NC_000014.9:g.95096700A>C	-
DICER1	Q9UPY3	p.Met1407Val	rs759394379	missense variant	-	NC_000014.9:g.95096701T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1407Leu	rs759394379	missense variant	-	NC_000014.9:g.95096701T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1407Ile	rs1060503589	missense variant	-	NC_000014.9:g.95096699C>A	-
DICER1	Q9UPY3	p.Ala1409Thr	rs1004274014	missense variant	-	NC_000014.9:g.95096695C>T	TOPMed
DICER1	Q9UPY3	p.Ala1409Val	rs776416084	missense variant	-	NC_000014.9:g.95096694G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1409Glu	rs776416084	missense variant	-	NC_000014.9:g.95096694G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1409Gly	rs776416084	missense variant	-	NC_000014.9:g.95096694G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1415Gly	rs1343899610	missense variant	-	NC_000014.9:g.95096676T>C	gnomAD
DICER1	Q9UPY3	p.Tyr1417Phe	rs768820364	missense variant	-	NC_000014.9:g.95096670T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1418Lys	rs1421729263	missense variant	-	NC_000014.9:g.95096668C>T	gnomAD
DICER1	Q9UPY3	p.Glu1419Asp	rs1486741089	missense variant	-	NC_000014.9:g.95096663C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1419Gln	rs775839852	missense variant	-	NC_000014.9:g.95096665C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1419Val	rs770273518	missense variant	-	NC_000014.9:g.95096664T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1421Glu	RCV000567188	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096657A>C	ClinVar
DICER1	Q9UPY3	p.Asp1421Glu	rs1219156713	missense variant	-	NC_000014.9:g.95096657A>C	TOPMed
DICER1	Q9UPY3	p.Glu1422Ter	RCV000493195	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096656dup	ClinVar
DICER1	Q9UPY3	p.Glu1422Asp	rs746164022	missense variant	-	NC_000014.9:g.95096654C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1422Asp	rs746164022	missense variant	-	NC_000014.9:g.95096654C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1422Asp	RCV000555614	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096654C>A	ClinVar
DICER1	Q9UPY3	p.Ser1426Asn	RCV000462711	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096643C>T	ClinVar
DICER1	Q9UPY3	p.Ser1426Asn	rs1060503648	missense variant	-	NC_000014.9:g.95096643C>T	gnomAD
DICER1	Q9UPY3	p.Met1428Lys	RCV000562615	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096637A>T	ClinVar
DICER1	Q9UPY3	p.Met1428Lys	RCV000459122	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096637A>T	ClinVar
DICER1	Q9UPY3	p.Met1428Lys	rs996633792	missense variant	-	NC_000014.9:g.95096637A>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Trp1429Ter	RCV000492934	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096635del	ClinVar
DICER1	Q9UPY3	p.Arg1430Gly	RCV000545818	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096632T>C	ClinVar
DICER1	Q9UPY3	p.Arg1430Gly	rs771513798	missense variant	-	NC_000014.9:g.95096632T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1431Pro	rs1256249012	missense variant	-	NC_000014.9:g.95096629C>G	TOPMed
DICER1	Q9UPY3	p.Pro1432Ala	RCV000566953	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096626G>C	ClinVar
DICER1	Q9UPY3	p.Pro1432Leu	RCV000560637	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096625G>A	ClinVar
DICER1	Q9UPY3	p.Pro1432Leu	rs747593690	missense variant	-	NC_000014.9:g.95096625G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1432Ala	rs1555367862	missense variant	-	NC_000014.9:g.95096626G>C	-
DICER1	Q9UPY3	p.Glu1435Asp	RCV000698151	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096615C>A	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	RCV000563455	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096613G>T	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	RCV000476530	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096613G>T	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	rs777127946	missense variant	-	NC_000014.9:g.95096613G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1436Ser	rs1360320875	missense variant	-	NC_000014.9:g.95096614C>A	gnomAD
DICER1	Q9UPY3	p.Asp1437Ter	RCV000240895	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Asp1437Ter	RCV000493485	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Asp1437Ter	RCV000851471	frameshift	-	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Tyr1438Asn	RCV000228106	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096608A>T	ClinVar
DICER1	Q9UPY3	p.Tyr1438Asn	rs878855264	missense variant	-	NC_000014.9:g.95096608A>T	-
DICER1	Q9UPY3	p.Tyr1438Cys	rs1202589148	missense variant	-	NC_000014.9:g.95096607T>C	TOPMed
DICER1	Q9UPY3	p.Glu1439Asp	rs1394532756	missense variant	-	NC_000014.9:g.95096603T>G	gnomAD
DICER1	Q9UPY3	p.Asp1441Tyr	rs752291344	missense variant	-	NC_000014.9:g.95096599C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1444Asp	rs1367487931	missense variant	-	NC_000014.9:g.95096588C>G	gnomAD
DICER1	Q9UPY3	p.Glu1444Lys	rs1455952908	missense variant	-	NC_000014.9:g.95096590C>T	gnomAD
DICER1	Q9UPY3	p.Asp1446Asn	rs899635943	missense variant	-	NC_000014.9:g.95096584C>T	TOPMed
DICER1	Q9UPY3	p.Ile1450Leu	rs1430019327	missense variant	-	NC_000014.9:g.95096572T>G	gnomAD
DICER1	Q9UPY3	p.Ile1453Val	rs1040361162	missense variant	-	NC_000014.9:g.95096563T>C	gnomAD
DICER1	Q9UPY3	p.Asn1455Thr	RCV000231875	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096556T>G	ClinVar
DICER1	Q9UPY3	p.Asn1455Asp	RCV000687068	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096557T>C	ClinVar
DICER1	Q9UPY3	p.Asn1455Thr	rs878855265	missense variant	-	NC_000014.9:g.95096556T>G	-
DICER1	Q9UPY3	p.Met1456Ile	rs1187851945	missense variant	-	NC_000014.9:g.95096552C>T	gnomAD
DICER1	Q9UPY3	p.Met1458Ile	rs1488281692	missense variant	-	NC_000014.9:g.95096546C>A	TOPMed
DICER1	Q9UPY3	p.Gly1459Glu	RCV000654407	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096544C>T	ClinVar
DICER1	Q9UPY3	p.Gly1459Glu	rs1043584252	missense variant	-	NC_000014.9:g.95096544C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1462Val	RCV000654437	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096535G>A	ClinVar
DICER1	Q9UPY3	p.Ala1462Val	rs1555367829	missense variant	-	NC_000014.9:g.95096535G>A	-
DICER1	Q9UPY3	p.Val1464Leu	RCV000700566	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096530C>A	ClinVar
DICER1	Q9UPY3	p.Val1464Ile	rs1208091143	missense variant	-	NC_000014.9:g.95096530C>T	gnomAD
DICER1	Q9UPY3	p.Ser1468Cys	RCV000561994	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096517G>C	ClinVar
DICER1	Q9UPY3	p.Ser1468Cys	RCV000694811	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096517G>C	ClinVar
DICER1	Q9UPY3	p.Ser1468Cys	rs753582860	missense variant	-	NC_000014.9:g.95096517G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1468Phe	rs753582860	missense variant	-	NC_000014.9:g.95096517G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1469Pro	RCV000544557	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096514A>G	ClinVar
DICER1	Q9UPY3	p.Leu1469Pro	RCV000561747	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096514A>G	ClinVar
DICER1	Q9UPY3	p.Leu1469Ile	RCV000476492	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515G>T	ClinVar
DICER1	Q9UPY3	p.Leu1469Ter	RCV000654427	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
DICER1	Q9UPY3	p.Leu1469Ter	RCV000478954	frameshift	-	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
DICER1	Q9UPY3	p.Leu1469Pro	rs200890670	missense variant	-	NC_000014.9:g.95096514A>G	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1469Ile	rs766194200	missense variant	-	NC_000014.9:g.95096515G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1470Ter	RCV000240868	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Ser1470Ter	RCV000494649	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Ser1470Ter	RCV000211112	frameshift	Pineoblastoma	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	RCV000561516	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096508G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Ter	RCV000240930	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.del1471del	RCV000240930	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	RCV000468028	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096508G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Ser	RCV000654406	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096509G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	rs1060503657	missense variant	-	NC_000014.9:g.95096508G>A	-
DICER1	Q9UPY3	p.Pro1471Ser	rs764066711	missense variant	-	NC_000014.9:g.95096509G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.del1471del	RCV000492956	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Pro1471Ter	RCV000492956	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Phe1472Val	rs763155602	missense variant	-	NC_000014.9:g.95096506A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1472Leu	rs763155602	missense variant	-	NC_000014.9:g.95096506A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1475Ala	RCV000538120	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096497T>C	ClinVar
DICER1	Q9UPY3	p.Thr1475Ala	rs150883389	missense variant	-	NC_000014.9:g.95096497T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1476Ter	RCV000240907	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096493_95096494insA	ClinVar
DICER1	Q9UPY3	p.Asp1476Tyr	rs759857552	missense variant	-	NC_000014.9:g.95096494C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1477Phe	RCV000548183	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096490G>A	ClinVar
DICER1	Q9UPY3	p.Ser1477Phe	rs1463264407	missense variant	-	NC_000014.9:g.95096490G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1478Val	rs771378631	missense variant	-	NC_000014.9:g.95096487G>A	ExAC
DICER1	Q9UPY3	p.Tyr1479Cys	RCV000558444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096484T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1479Cys	rs1218181729	missense variant	-	NC_000014.9:g.95096484T>C	TOPMed
DICER1	Q9UPY3	p.Trp1481Arg	rs778414751	missense variant	-	NC_000014.9:g.95096479A>G	ExAC
DICER1	Q9UPY3	p.Met1483Ile	RCV000699832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096471C>T	ClinVar
DICER1	Q9UPY3	p.Met1483Ile	RCV000765193	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096471C>T	ClinVar
DICER1	Q9UPY3	p.Met1483Ile	rs1454569806	missense variant	-	NC_000014.9:g.95096471C>T	gnomAD
DICER1	Q9UPY3	p.Pro1484Thr	rs1184743227	missense variant	-	NC_000014.9:g.95096470G>T	gnomAD
DICER1	Q9UPY3	p.Lys1485Gln	rs772462662	missense variant	-	NC_000014.9:g.95096467T>G	ExAC
DICER1	Q9UPY3	p.Ser1487Ter	RCV000657269	frameshift	-	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1487Ter	RCV000493389	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1487Ter	RCV000811512	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1491Ile	rs878855267	missense variant	-	NC_000014.9:g.95096448C>A	-
DICER1	Q9UPY3	p.Ser1491Ile	RCV000229691	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096448C>A	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000765192	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000561694	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000654444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	rs370947079	missense variant	-	NC_000014.9:g.95096445A>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1492Val	rs756830706	missense variant	-	NC_000014.9:g.95096446T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1492Ile	rs1186397655	missense variant	-	NC_000014.9:g.95096444C>T	gnomAD
DICER1	Q9UPY3	p.Met1492Val	RCV000562003	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096446T>C	ClinVar
DICER1	Q9UPY3	p.Met1492Val	RCV000536096	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096446T>C	ClinVar
DICER1	Q9UPY3	p.Ser1495Leu	rs753527258	missense variant	-	NC_000014.9:g.95096436G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1495Pro	rs767679076	missense variant	-	NC_000014.9:g.95096437A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1495Leu	RCV000550982	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096436G>A	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	RCV000566167	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096431C>T	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	RCV000232473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096431C>T	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	rs878855268	missense variant	-	NC_000014.9:g.95096431C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1498Leu	rs779801642	missense variant	-	NC_000014.9:g.95096426A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1499Gln	rs1350503269	missense variant	-	NC_000014.9:g.95096425C>G	gnomAD
DICER1	Q9UPY3	p.Asp1502Asn	RCV000808428	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096416C>T	ClinVar
DICER1	Q9UPY3	p.Asp1502Asn	rs1273522896	missense variant	-	NC_000014.9:g.95096416C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1502Asn	RCV000570957	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096416C>T	ClinVar
DICER1	Q9UPY3	p.Ser1504Ter	RCV000240947	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
DICER1	Q9UPY3	p.del1504del	RCV000240947	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
DICER1	Q9UPY3	p.Ser1505Pro	rs1329994791	missense variant	-	NC_000014.9:g.95096407A>G	gnomAD
DICER1	Q9UPY3	p.Trp1506Ter	RCV000240870	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096403C>T	ClinVar
DICER1	Q9UPY3	p.Trp1506Ter	rs886037716	stop gained	-	NC_000014.9:g.95096403C>T	TOPMed
DICER1	Q9UPY3	p.Trp1506Ter	RCV000493299	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096403C>T	ClinVar
DICER1	Q9UPY3	p.Tyr1511Ter	RCV000494424	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096387A>T	ClinVar
DICER1	Q9UPY3	p.Tyr1511Ter	rs1131691206	stop gained	-	NC_000014.9:g.95096387A>T	gnomAD
DICER1	Q9UPY3	p.Asp1513Tyr	rs1316786303	missense variant	-	NC_000014.9:g.95096383C>A	gnomAD
DICER1	Q9UPY3	p.Ser1515Asn	rs761666375	missense variant	-	NC_000014.9:g.95096376C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1519Ter	RCV000493125	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096365del	ClinVar
DICER1	Q9UPY3	p.Glu1519Val	RCV000457105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096364T>A	ClinVar
DICER1	Q9UPY3	p.Glu1519Val	rs1060503622	missense variant	-	NC_000014.9:g.95096364T>A	-
DICER1	Q9UPY3	p.Glu1520Gln	rs1170730150	missense variant	-	NC_000014.9:g.95096362C>G	gnomAD
DICER1	Q9UPY3	p.Asp1521Gly	rs1434924094	missense variant	-	NC_000014.9:g.95096358T>C	TOPMed
DICER1	Q9UPY3	p.Asp1522Glu	rs1364431792	missense variant	-	NC_000014.9:g.95096354G>C	gnomAD
DICER1	Q9UPY3	p.Glu1533Asp	rs777054659	missense variant	-	NC_000014.9:g.95096321T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys1535Ter	RCV000851419	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000851419	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Tyr	rs1211879881	missense variant	-	NC_000014.9:g.95096316C>T	gnomAD
DICER1	Q9UPY3	p.del1535del	RCV000494288	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Ter	RCV000494288	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000240909	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Ter	RCV000240909	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Gly1536Asp	rs1486849070	missense variant	-	NC_000014.9:g.95096313C>T	gnomAD
DICER1	Q9UPY3	p.Val1537Ile	rs766652674	missense variant	-	NC_000014.9:g.95096311C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1538Glu	rs761038319	missense variant	-	NC_000014.9:g.95096306G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1539Lys	RCV000471006	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>T	ClinVar
DICER1	Q9UPY3	p.Thr1539Met	RCV000232937	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>A	ClinVar
DICER1	Q9UPY3	p.Thr1539Met	RCV000494503	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096304G>A	ClinVar
DICER1	Q9UPY3	p.Thr1539Lys	rs747901058	missense variant	-	NC_000014.9:g.95096304G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1539Met	rs747901058	missense variant	-	NC_000014.9:g.95096304G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1541Ter	RCV000493604	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.del1541del	RCV000240950	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.Lys1541Ter	RCV000240950	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.del1541del	RCV000493604	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.Lys1541Ter	rs886037718	stop gained	-	NC_000014.9:g.95096299T>A	-
DICER1	Q9UPY3	p.Gln1542Ter	RCV000240874	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096294del	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	RCV000823820	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096290T>C	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	RCV000569957	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096290T>C	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	rs1555367720	missense variant	-	NC_000014.9:g.95096290T>C	-
DICER1	Q9UPY3	p.Ile1544Asn	rs541733582	missense variant	-	NC_000014.9:g.95096289A>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1545Ter	RCV000851420	frameshift	-	NC_000014.9:g.95096289dup	ClinVar
DICER1	Q9UPY3	p.Ser1545Ter	RCV000211108	frameshift	Pineoblastoma	NC_000014.9:g.95096289dup	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	rs773822569	stop gained	-	NC_000014.9:g.95096282G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1546Ter	RCV000494101	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096283dup	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	RCV000539434	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096282G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	rs1131691221	stop gained	-	NC_000014.9:g.95096283dup	-
DICER1	Q9UPY3	p.Leu1548Phe	RCV000476197	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096276C>G	ClinVar
DICER1	Q9UPY3	p.Leu1548Phe	rs1060503619	missense variant	-	NC_000014.9:g.95096276C>G	-
DICER1	Q9UPY3	p.Thr1550Ser	rs1435663556	missense variant	-	NC_000014.9:g.95096271G>C	TOPMed
DICER1	Q9UPY3	p.Gln1552Ter	RCV000851421	nonsense	-	NC_000014.9:g.95096266G>A	ClinVar
DICER1	Q9UPY3	p.Gln1552Ter	rs1131691208	stop gained	-	NC_000014.9:g.95096266G>A	-
DICER1	Q9UPY3	p.Cys1553Ter	RCV000494085	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096263dup	ClinVar
DICER1	Q9UPY3	p.Ser1558Thr	rs779823153	missense variant	-	NC_000014.9:g.95096247C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1559Arg	RCV000570672	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096244A>C	ClinVar
DICER1	Q9UPY3	p.Ile1559Arg	rs1555367694	missense variant	-	NC_000014.9:g.95096244A>C	-
DICER1	Q9UPY3	p.Ile1559Met	rs755726950	missense variant	-	NC_000014.9:g.95096243T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1559Val	rs377409989	missense variant	-	NC_000014.9:g.95096245T>C	ESP,TOPMed
DICER1	Q9UPY3	p.Tyr1570Cys	rs765396989	missense variant	-	NC_000014.9:g.95096211T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1570Phe	rs765396989	missense variant	-	NC_000014.9:g.95096211T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1570Cys	RCV000233254	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096211T>C	ClinVar
DICER1	Q9UPY3	p.Ser1573Thr	RCV000553405	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096202C>G	ClinVar
DICER1	Q9UPY3	p.Ser1573Thr	rs1555367674	missense variant	-	NC_000014.9:g.95096202C>G	-
DICER1	Q9UPY3	p.Cys1574Ser	rs1236067722	missense variant	-	NC_000014.9:g.95096199C>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1575Arg	RCV000461106	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096197C>G	ClinVar
DICER1	Q9UPY3	p.Gly1575Arg	rs1060503609	missense variant	-	NC_000014.9:g.95096197C>G	-
DICER1	Q9UPY3	p.Glu1576Asp	rs753976236	missense variant	-	NC_000014.9:g.95096192C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1577Lys	rs1447972626	missense variant	-	NC_000014.9:g.95096190C>T	gnomAD
DICER1	Q9UPY3	p.Ala1578Thr	rs760830088	missense variant	-	NC_000014.9:g.95096188C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1579Val	rs1466171960	missense variant	-	NC_000014.9:g.95096184G>A	gnomAD
DICER1	Q9UPY3	p.Gln1580His	RCV000468344	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096180C>A	ClinVar
DICER1	Q9UPY3	p.Gln1580His	RCV000574285	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096180C>A	ClinVar
DICER1	Q9UPY3	p.Gln1580His	rs369465519	missense variant	-	NC_000014.9:g.95096180C>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1583Arg	rs137852976	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt,dbSNP
DICER1	Q9UPY3	p.Leu1583Arg	VAR_063150	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt
DICER1	Q9UPY3	p.Leu1583Arg	rs137852976	missense variant	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95096172A>C	-
DICER1	Q9UPY3	p.Leu1583Arg	RCV000240912	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096172A>C	ClinVar
DICER1	Q9UPY3	p.Leu1583Arg	RCV000004725	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	ClinVar
DICER1	Q9UPY3	p.Ser1585Ter	RCV000240939	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096166G>C	ClinVar
DICER1	Q9UPY3	p.Ser1585Ter	RCV000211120	nonsense	Pineoblastoma	NC_000014.9:g.95096166G>C	ClinVar
DICER1	Q9UPY3	p.Ser1585Ter	rs875989779	stop gained	-	NC_000014.9:g.95096166G>C	-
DICER1	Q9UPY3	p.Gly1587Ter	RCV000691984	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096158del	ClinVar
DICER1	Q9UPY3	p.Gly1587Val	rs1237854658	missense variant	-	NC_000014.9:g.95096160C>A	TOPMed
DICER1	Q9UPY3	p.Gly1587Glu	rs1237854658	missense variant	-	NC_000014.9:g.95096160C>T	TOPMed
DICER1	Q9UPY3	p.Lys1589Met	rs768146959	missense variant	-	NC_000014.9:g.95096154T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1591Phe	rs1446931608	missense variant	-	NC_000014.9:g.95096149G>A	gnomAD
DICER1	Q9UPY3	p.Val1593Leu	RCV000472687	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096143C>G	ClinVar
DICER1	Q9UPY3	p.Val1593Leu	rs1060503644	missense variant	-	NC_000014.9:g.95096143C>G	gnomAD
DICER1	Q9UPY3	p.Thr1597Asn	rs1387955483	missense variant	-	NC_000014.9:g.95096130G>T	gnomAD
DICER1	Q9UPY3	p.Asp1598Asn	rs757177980	missense variant	-	NC_000014.9:g.95096128C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1599Gly	RCV000532384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>C	ClinVar
DICER1	Q9UPY3	p.Arg1599Trp	RCV000809626	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>A	ClinVar
DICER1	Q9UPY3	p.Arg1599Gly	RCV000562129	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096125G>C	ClinVar
DICER1	Q9UPY3	p.Arg1599Gln	RCV000457830	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>T	ClinVar
DICER1	Q9UPY3	p.Arg1599Leu	RCV000547257	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>A	ClinVar
DICER1	Q9UPY3	p.Arg1599Gln	rs569615549	missense variant	-	NC_000014.9:g.95096124C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Gly	rs587778230	missense variant	-	NC_000014.9:g.95096125G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Leu	rs569615549	missense variant	-	NC_000014.9:g.95096124C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Trp	rs587778230	missense variant	-	NC_000014.9:g.95096125G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1601Met	RCV000401929	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096118T>A	ClinVar
DICER1	Q9UPY3	p.Lys1601Met	rs181018393	missense variant	-	NC_000014.9:g.95096118T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1602Gly	RCV000569711	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096115G>C	ClinVar
DICER1	Q9UPY3	p.Ala1602Gly	rs148955573	missense variant	-	NC_000014.9:g.95096115G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1602Thr	RCV000457948	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096116C>T	ClinVar
DICER1	Q9UPY3	p.Ala1602Thr	RCV000561152	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096116C>T	ClinVar
DICER1	Q9UPY3	p.Ala1602Thr	rs145669719	missense variant	-	NC_000014.9:g.95096116C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1602Gly	RCV000654386	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096115G>C	ClinVar
DICER1	Q9UPY3	p.Leu1603Pro	rs1464874776	missense variant	-	NC_000014.9:g.95096112A>G	gnomAD
DICER1	Q9UPY3	p.Cys1604Ter	RCV000492888	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096108G>T	ClinVar
DICER1	Q9UPY3	p.Cys1604Ter	rs1131691201	stop gained	-	NC_000014.9:g.95096108G>T	-
DICER1	Q9UPY3	p.Cys1604Phe	rs1254200271	missense variant	-	NC_000014.9:g.95096109C>A	gnomAD
DICER1	Q9UPY3	p.Pro1605Arg	rs939314926	missense variant	-	NC_000014.9:g.95096106G>C	TOPMed
DICER1	Q9UPY3	p.Thr1606Ala	rs767907056	missense variant	-	NC_000014.9:g.95096104T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1607Gln	RCV000465086	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096100C>T	ClinVar
DICER1	Q9UPY3	p.Arg1607Gln	RCV000570497	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096100C>T	ClinVar
DICER1	Q9UPY3	p.Arg1607Trp	RCV000335071	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096101G>A	ClinVar
DICER1	Q9UPY3	p.Arg1607Gln	rs368963384	missense variant	-	NC_000014.9:g.95096100C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1607Trp	rs189119295	missense variant	-	NC_000014.9:g.95096101G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1609Ser	RCV000552752	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096094T>C	ClinVar
DICER1	Q9UPY3	p.Asn1609Ser	rs1228069910	missense variant	-	NC_000014.9:g.95096094T>C	TOPMed
DICER1	Q9UPY3	p.Phe1610Leu	rs1314094025	missense variant	-	NC_000014.9:g.95096090G>C	TOPMed
DICER1	Q9UPY3	p.Asn1611Ser	rs763472931	missense variant	-	NC_000014.9:g.95096088T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1611Thr	rs763472931	missense variant	-	NC_000014.9:g.95096088T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1613Leu	rs775024028	missense variant	-	NC_000014.9:g.95096082T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1613Leu	RCV000575624	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096082T>A	ClinVar
DICER1	Q9UPY3	p.Gln1613Arg	rs775024028	missense variant	-	NC_000014.9:g.95096082T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1614Arg	RCV000531188	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096079T>C	ClinVar
DICER1	Q9UPY3	p.Gln1614Arg	rs769225805	missense variant	-	NC_000014.9:g.95096079T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1614Leu	rs769225805	missense variant	-	NC_000014.9:g.95096079T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1616Ser	RCV000545218	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096073T>C	ClinVar
DICER1	Q9UPY3	p.Asn1616Ser	rs1257498722	missense variant	-	NC_000014.9:g.95096073T>C	TOPMed
DICER1	Q9UPY3	p.Leu1617Pro	RCV000560028	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096070A>G	ClinVar
DICER1	Q9UPY3	p.Leu1617Pro	rs1555367614	missense variant	-	NC_000014.9:g.95096070A>G	-
DICER1	Q9UPY3	p.Ser1618Ter	RCV000494069	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096067G>T	ClinVar
DICER1	Q9UPY3	p.Ser1618Leu	RCV000230338	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096067G>A	ClinVar
DICER1	Q9UPY3	p.Ser1618Leu	rs377205344	missense variant	-	NC_000014.9:g.95096067G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1618Ter	rs377205344	stop gained	-	NC_000014.9:g.95096067G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1619Met	rs1438625170	missense variant	-	NC_000014.9:g.95096065C>T	gnomAD
DICER1	Q9UPY3	p.Ser1620Asn	RCV000533667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096061C>T	ClinVar
DICER1	Q9UPY3	p.Ser1620Asn	rs1555367601	missense variant	-	NC_000014.9:g.95096061C>T	-
DICER1	Q9UPY3	p.Ala1624Val	RCV000811928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096049G>A	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	rs372967646	missense variant	-	NC_000014.9:g.95096050C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1624Pro	RCV000696826	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Val	RCV000563354	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096049G>A	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	RCV000566395	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	RCV000761082	missense variant	-	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Val	rs1555367596	missense variant	-	NC_000014.9:g.95096049G>A	-
DICER1	Q9UPY3	p.Ser1625Cys	RCV000229012	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>C	ClinVar
DICER1	Q9UPY3	p.Ser1625Phe	RCV000543986	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>A	ClinVar
DICER1	Q9UPY3	p.Ser1625Tyr	RCV000205591	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>T	ClinVar
DICER1	Q9UPY3	p.Ser1625Pro	RCV000471778	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096047A>G	ClinVar
DICER1	Q9UPY3	p.Ser1625Cys	rs864622653	missense variant	-	NC_000014.9:g.95096046G>C	gnomAD
DICER1	Q9UPY3	p.Ser1625Tyr	rs864622653	missense variant	-	NC_000014.9:g.95096046G>T	gnomAD
DICER1	Q9UPY3	p.Ser1625Phe	rs864622653	missense variant	-	NC_000014.9:g.95096046G>A	gnomAD
DICER1	Q9UPY3	p.Ser1625Tyr	RCV000565933	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096046G>T	ClinVar
DICER1	Q9UPY3	p.Ser1625Pro	rs529131866	missense variant	-	NC_000014.9:g.95096047A>G	1000Genomes,ExAC,TOPMed
DICER1	Q9UPY3	p.Val1626Met	RCV000562463	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096044C>T	ClinVar
DICER1	Q9UPY3	p.Val1626Gly	rs777737447	missense variant	-	NC_000014.9:g.95096043A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1626Met	rs1555367589	missense variant	-	NC_000014.9:g.95096044C>T	-
DICER1	Q9UPY3	p.Val1626Ala	rs777737447	missense variant	-	NC_000014.9:g.95096043A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1628Gly	rs748079162	missense variant	-	NC_000014.9:g.95096038T>C	ExAC
DICER1	Q9UPY3	p.Ser1628Ile	rs1392384194	missense variant	-	NC_000014.9:g.95096037C>A	gnomAD
DICER1	Q9UPY3	p.Ser1629Leu	rs1167159136	missense variant	-	NC_000014.9:g.95096034G>A	gnomAD
DICER1	Q9UPY3	p.Arg1630His	RCV000565748	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096031C>T	ClinVar
DICER1	Q9UPY3	p.Arg1630His	RCV000559079	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096031C>T	ClinVar
DICER1	Q9UPY3	p.Arg1630Cys	RCV000467108	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096032G>A	ClinVar
DICER1	Q9UPY3	p.Arg1630Cys	RCV000571126	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096032G>A	ClinVar
DICER1	Q9UPY3	p.Arg1630Leu	rs368343829	missense variant	-	NC_000014.9:g.95096031C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1630Cys	rs549532374	missense variant	-	NC_000014.9:g.95096032G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1630His	rs368343829	missense variant	-	NC_000014.9:g.95096031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1631Ala	RCV000301109	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	RCV000205231	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	RCV000611518	missense variant	-	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	RCV000567615	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	rs145551486	missense variant	-	NC_000014.9:g.95096029A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1632Pro	RCV000568973	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096026A>G	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	RCV000476667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096026A>G	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	rs545392797	missense variant	-	NC_000014.9:g.95096026A>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val1633Ile	RCV000466854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096023C>T	ClinVar
DICER1	Q9UPY3	p.Val1633Ile	rs1060503643	missense variant	-	NC_000014.9:g.95096023C>T	-
DICER1	Q9UPY3	p.Leu1634Ser	rs149723645	missense variant	-	NC_000014.9:g.95096019A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1634Ser	RCV000234713	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096019A>G	ClinVar
DICER1	Q9UPY3	p.Lys1635Asn	RCV000706254	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096015T>G	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	RCV000493303	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	RCV000228543	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	RCV000391880	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	rs140875148	missense variant	-	NC_000014.9:g.95096010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1637Trp	rs140875148	missense variant	-	NC_000014.9:g.95096010G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1639Cys	rs1350329738	missense variant	-	NC_000014.9:g.95096004T>C	gnomAD
DICER1	Q9UPY3	p.Gly1640Ter	RCV000494196	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095997_95096000del	ClinVar
DICER1	Q9UPY3	p.Gly1640Ser	rs753190767	missense variant	-	NC_000014.9:g.95096002C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys1641Gly	RCV000693614	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095999A>C	ClinVar
DICER1	Q9UPY3	p.Cys1641Trp	RCV000120642	missense variant	-	NC_000014.9:g.95095997A>C	ClinVar
DICER1	Q9UPY3	p.Cys1641Trp	rs587778231	missense variant	-	NC_000014.9:g.95095997A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1649Ile	rs1274381410	missense variant	-	NC_000014.9:g.95095973C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1649Val	RCV000465635	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095975T>C	ClinVar
DICER1	Q9UPY3	p.Met1649Ile	RCV000537552	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095973C>T	ClinVar
DICER1	Q9UPY3	p.Met1649Val	rs146715213	missense variant	-	NC_000014.9:g.95095975T>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Phe1650Cys	RCV000575142	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095971A>C	ClinVar
DICER1	Q9UPY3	p.Phe1650Cys	rs760439905	missense variant	-	NC_000014.9:g.95095971A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1650Cys	RCV000547598	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095971A>C	ClinVar
DICER1	Q9UPY3	p.His1652Tyr	rs1372597986	missense variant	-	NC_000014.9:g.95095966G>A	gnomAD
DICER1	Q9UPY3	p.His1652Tyr	RCV000526051	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095966G>A	ClinVar
DICER1	Q9UPY3	p.Pro1653Gln	rs773113605	missense variant	-	NC_000014.9:g.95095962G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1654Ter	RCV000493443	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095960_95095961dup	ClinVar
DICER1	Q9UPY3	p.Asp1654Ter	RCV000240875	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095960_95095961dup	ClinVar
DICER1	Q9UPY3	p.Asp1656Asn	rs748106400	missense variant	-	NC_000014.9:g.95095954C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1656Gly	rs1431986661	missense variant	-	NC_000014.9:g.95095953T>C	gnomAD
DICER1	Q9UPY3	p.Lys1657Thr	RCV000570749	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095950T>G	ClinVar
DICER1	Q9UPY3	p.Lys1657Ile	rs778780063	missense variant	-	NC_000014.9:g.95095950T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1657Thr	rs778780063	missense variant	-	NC_000014.9:g.95095950T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1657Thr	RCV000706444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095950T>G	ClinVar
DICER1	Q9UPY3	p.Thr1658Ala	rs768640549	missense variant	-	NC_000014.9:g.95095948T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1663Val	RCV000548128	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095933T>C	ClinVar
DICER1	Q9UPY3	p.Ile1663Ter	RCV000493436	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095937del	ClinVar
DICER1	Q9UPY3	p.Ile1663Met	rs1253443798	missense variant	-	NC_000014.9:g.95095931T>C	gnomAD
DICER1	Q9UPY3	p.Ile1663Val	rs1555367530	missense variant	-	NC_000014.9:g.95095933T>C	-
DICER1	Q9UPY3	p.Ser1664Leu	RCV000563940	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095929G>A	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	RCV000466310	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095929G>A	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	rs988095775	missense variant	-	NC_000014.9:g.95095929G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1665Arg	RCV000654387	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095927C>T	ClinVar
DICER1	Q9UPY3	p.Gly1665Ala	rs1256442548	missense variant	-	NC_000014.9:g.95095926C>G	gnomAD
DICER1	Q9UPY3	p.Gly1665Arg	rs1555367528	missense variant	-	NC_000014.9:g.95095927C>T	-
DICER1	Q9UPY3	p.Glu1667Ter	RCV000654412	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095921C>A	ClinVar
DICER1	Q9UPY3	p.Glu1667Ter	rs1555367522	stop gained	-	NC_000014.9:g.95095921C>A	-
DICER1	Q9UPY3	p.Phe1669Leu	rs1210643393	missense variant	-	NC_000014.9:g.95095913A>C	TOPMed
DICER1	Q9UPY3	p.Lys1671Asn	RCV000654446	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095907C>G	ClinVar
DICER1	Q9UPY3	p.Lys1671Asn	rs751819396	missense variant	-	NC_000014.9:g.95095907C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1671Asn	rs751819396	missense variant	-	NC_000014.9:g.95095907C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1671Glu	rs1484737767	missense variant	-	NC_000014.9:g.95095909T>C	TOPMed
DICER1	Q9UPY3	p.Lys1672Asn	RCV000526250	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095904T>A	ClinVar
DICER1	Q9UPY3	p.Lys1672Asn	rs1438773814	missense variant	-	NC_000014.9:g.95095904T>A	gnomAD
DICER1	Q9UPY3	p.Asn1674Thr	RCV000693348	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095899T>G	ClinVar
DICER1	Q9UPY3	p.Asn1674Asp	RCV000541146	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095900T>C	ClinVar
DICER1	Q9UPY3	p.Asn1674Thr	rs1424203615	missense variant	-	NC_000014.9:g.95095899T>G	TOPMed
DICER1	Q9UPY3	p.Asn1674Asp	rs1555367519	missense variant	-	NC_000014.9:g.95095900T>C	-
DICER1	Q9UPY3	p.Tyr1675His	RCV000556278	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095897A>G	ClinVar
DICER1	Q9UPY3	p.Tyr1675His	rs1555367518	missense variant	-	NC_000014.9:g.95095897A>G	-
DICER1	Q9UPY3	p.Arg1676Ser	RCV000540216	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095892T>A	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	RCV000687753	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095893C>G	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	RCV000571843	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095893C>G	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	rs375465466	missense variant	-	NC_000014.9:g.95095893C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1676Lys	rs375465466	missense variant	-	NC_000014.9:g.95095893C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1676Ser	rs1555367513	missense variant	-	NC_000014.9:g.95095892T>A	-
DICER1	Q9UPY3	p.Lys1678Asn	rs753111453	missense variant	-	NC_000014.9:g.95095886C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1678Glu	rs758758363	missense variant	-	NC_000014.9:g.95095888T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1679Ser	rs1424077753	missense variant	-	NC_000014.9:g.95095884T>C	TOPMed
DICER1	Q9UPY3	p.Lys1680Glu	RCV000476765	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095882T>C	ClinVar
DICER1	Q9UPY3	p.Lys1680Glu	RCV000566917	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095882T>C	ClinVar
DICER1	Q9UPY3	p.Lys1680Glu	rs1060503639	missense variant	-	NC_000014.9:g.95095882T>C	gnomAD
DICER1	Q9UPY3	p.Lys1680Gln	rs1060503639	missense variant	-	NC_000014.9:g.95095882T>G	gnomAD
DICER1	Q9UPY3	p.Ala1681Ser	RCV000570010	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095879C>A	ClinVar
DICER1	Q9UPY3	p.Ala1681Ser	rs1555367505	missense variant	-	NC_000014.9:g.95095879C>A	-
DICER1	Q9UPY3	p.Gln1685Ter	RCV000240917	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095867G>A	ClinVar
DICER1	Q9UPY3	p.Gln1685Ter	rs886037721	stop gained	-	NC_000014.9:g.95095867G>A	-
DICER1	Q9UPY3	p.Ala1686Val	RCV000555084	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095863G>A	ClinVar
DICER1	Q9UPY3	p.Ala1686Val	rs1555367498	missense variant	-	NC_000014.9:g.95095863G>A	-
DICER1	Q9UPY3	p.Thr1688Lys	RCV000532685	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095857G>T	ClinVar
DICER1	Q9UPY3	p.Thr1688Lys	rs1555367495	missense variant	-	NC_000014.9:g.95095857G>T	-
DICER1	Q9UPY3	p.His1693Asn	RCV000570079	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095843G>T	ClinVar
DICER1	Q9UPY3	p.His1693Arg	rs1359055040	missense variant	-	NC_000014.9:g.95095842T>C	gnomAD
DICER1	Q9UPY3	p.His1693Asn	rs1555367487	missense variant	-	NC_000014.9:g.95095843G>T	-
DICER1	Q9UPY3	p.Thr1696Ser	rs1160478379	missense variant	-	NC_000014.9:g.95095833G>C	gnomAD
DICER1	Q9UPY3	p.Ile1697Val	RCV000553062	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095831T>C	ClinVar
DICER1	Q9UPY3	p.Ile1697Met	rs753251774	missense variant	-	NC_000014.9:g.95095829G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1697Val	rs1457257809	missense variant	-	NC_000014.9:g.95095831T>C	gnomAD
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000851423	nonsense	-	NC_000014.9:g.95094149G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000654463	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094149G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000627364	nonsense	-	NC_000014.9:g.95094149G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	rs875989780	stop gained	-	NC_000014.9:g.95094149G>T	-
DICER1	Q9UPY3	p.Tyr1701Ter	rs875989780	stop gained	-	NC_000014.9:g.95094149G>C	-
DICER1	Q9UPY3	p.Gln1702Ter	RCV000240919	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094148G>A	ClinVar
DICER1	Q9UPY3	p.Gln1702Ter	RCV000494634	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094148G>A	ClinVar
DICER1	Q9UPY3	p.Gln1702Ter	rs886037723	stop gained	-	NC_000014.9:g.95094148G>A	-
DICER1	Q9UPY3	p.Arg1703Cys	RCV000231550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094145G>A	ClinVar
DICER1	Q9UPY3	p.Arg1703Cys	rs878855272	missense variant	-	NC_000014.9:g.95094145G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1705Lys	VAR_067091	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Phe1706Leu	rs1060503635	missense variant	-	NC_000014.9:g.95094134G>T	-
DICER1	Q9UPY3	p.Phe1706Leu	RCV000474549	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094134G>T	ClinVar
DICER1	Q9UPY3	p.Gly1708Glu	rs886037724	missense variant	-	NC_000014.9:g.95094129C>T	-
DICER1	Q9UPY3	p.Gly1708Glu	RCV000240960	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094129C>T	ClinVar
DICER1	Q9UPY3	p.Asp1709Gly	RCV000546662	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094126T>C	ClinVar
DICER1	Q9UPY3	p.Asp1709Gly	rs1555366979	missense variant	-	NC_000014.9:g.95094126T>C	-
DICER1	Q9UPY3	p.Asp1709Gly	rs1555366979	missense variant	-	NC_000014.9:g.95094126T>C	UniProt,dbSNP
DICER1	Q9UPY3	p.Asp1709Gly	VAR_067093	missense variant	-	NC_000014.9:g.95094126T>C	UniProt
DICER1	Q9UPY3	p.Asp1709Tyr	VAR_081918	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
DICER1	Q9UPY3	p.Asp1709Glu	VAR_067092	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1709Asn	VAR_067094	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1713Val	VAR_081919	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
DICER1	Q9UPY3	p.Tyr1714His	rs1433832479	missense variant	-	NC_000014.9:g.95094112A>G	gnomAD
DICER1	Q9UPY3	p.Leu1715Arg	rs1269643869	missense variant	-	NC_000014.9:g.95094108A>C	gnomAD
DICER1	Q9UPY3	p.Lys1718Arg	rs1488309058	missense variant	-	NC_000014.9:g.95094099T>C	gnomAD
DICER1	Q9UPY3	p.Asp1723Glu	RCV000535105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094083G>C	ClinVar
DICER1	Q9UPY3	p.Asp1723Glu	rs1555366914	missense variant	-	NC_000014.9:g.95094083G>C	-
DICER1	Q9UPY3	p.Pro1724Ala	rs1207697357	missense variant	-	NC_000014.9:g.95094082G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro1724Gln	RCV000545467	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094081G>T	ClinVar
DICER1	Q9UPY3	p.Pro1724Arg	rs749900564	missense variant	-	NC_000014.9:g.95094081G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1724Gln	rs749900564	missense variant	-	NC_000014.9:g.95094081G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1725Trp	rs756827508	missense variant	-	NC_000014.9:g.95094079G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1725Gln	rs751273916	missense variant	-	NC_000014.9:g.95094078C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1726Leu	RCV000557161	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094075T>A	ClinVar
DICER1	Q9UPY3	p.Gln1726Leu	rs1555366877	missense variant	-	NC_000014.9:g.95094075T>A	-
DICER1	Q9UPY3	p.His1727Pro	rs1262583273	missense variant	-	NC_000014.9:g.95094072T>G	TOPMed
DICER1	Q9UPY3	p.His1727Arg	RCV000701569	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094072T>C	ClinVar
DICER1	Q9UPY3	p.Ser1728Phe	rs762801582	missense variant	-	NC_000014.9:g.95094069G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1731Leu	RCV000550226	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094061C>G	ClinVar
DICER1	Q9UPY3	p.Val1731Leu	rs1555366846	missense variant	-	NC_000014.9:g.95094061C>G	-
DICER1	Q9UPY3	p.del1732del	RCV000240897	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
DICER1	Q9UPY3	p.Leu1732Ter	RCV000240897	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
DICER1	Q9UPY3	p.Thr1743Ser	rs1196791933	missense variant	-	NC_000014.9:g.95094025T>A	gnomAD
DICER1	Q9UPY3	p.Phe1745Ter	RCV000493704	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094019del	ClinVar
DICER1	Q9UPY3	p.Ala1749Thr	rs1161123623	missense variant	-	NC_000014.9:g.95094007C>T	TOPMed
DICER1	Q9UPY3	p.Val1750Ile	RCV000572213	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094004C>T	ClinVar
DICER1	Q9UPY3	p.Val1750Ile	RCV000534697	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094004C>T	ClinVar
DICER1	Q9UPY3	p.Val1750Ile	rs1184678913	missense variant	-	NC_000014.9:g.95094004C>T	gnomAD
DICER1	Q9UPY3	p.Lys1751Ter	RCV000240933	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
DICER1	Q9UPY3	p.del1751del	RCV000240933	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
DICER1	Q9UPY3	p.Asp1753Glu	RCV000527854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093993G>C	ClinVar
DICER1	Q9UPY3	p.Asp1753Asn	RCV000549329	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093995C>T	ClinVar
DICER1	Q9UPY3	p.Asp1753Glu	rs1165221864	missense variant	-	NC_000014.9:g.95093993G>C	TOPMed
DICER1	Q9UPY3	p.Asp1753Asn	rs1460430963	missense variant	-	NC_000014.9:g.95093995C>T	TOPMed
DICER1	Q9UPY3	p.Lys1756Arg	rs1423918933	missense variant	-	NC_000014.9:g.95093985T>C	gnomAD
DICER1	Q9UPY3	p.Lys1759Arg	RCV000120643	missense variant	-	NC_000014.9:g.95093976T>C	ClinVar
DICER1	Q9UPY3	p.Lys1759Arg	rs144259142	missense variant	-	NC_000014.9:g.95093976T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1761Ala	RCV000565847	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093970A>G	ClinVar
DICER1	Q9UPY3	p.Val1761Ile	RCV000654389	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093971C>T	ClinVar
DICER1	Q9UPY3	p.Val1761Ile	rs1555366740	missense variant	-	NC_000014.9:g.95093971C>T	-
DICER1	Q9UPY3	p.Val1761Ala	rs1555366735	missense variant	-	NC_000014.9:g.95093970A>G	-
DICER1	Q9UPY3	p.Glu1764Ala	RCV000462050	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093961T>G	ClinVar
DICER1	Q9UPY3	p.Glu1764Ala	rs1060503637	missense variant	-	NC_000014.9:g.95093961T>G	-
DICER1	Q9UPY3	p.His1767Gln	RCV000461220	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093951A>C	ClinVar
DICER1	Q9UPY3	p.His1767Gln	rs1060503656	missense variant	-	NC_000014.9:g.95093951A>C	-
DICER1	Q9UPY3	p.His1767Arg	rs1296798488	missense variant	-	NC_000014.9:g.95093952T>C	TOPMed
DICER1	Q9UPY3	p.del1767del	RCV000493189	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.His1767Ter	RCV000493189	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.del1767del	RCV000240869	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.His1767Ter	RCV000240869	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.Phe1772Ter	RCV000229765	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093937_95093938del	ClinVar
DICER1	Q9UPY3	p.Phe1772Ter	RCV000657418	frameshift	-	NC_000014.9:g.95093937_95093938del	ClinVar
DICER1	Q9UPY3	p.Leu1777Phe	RCV000227591	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093923G>A	ClinVar
DICER1	Q9UPY3	p.Leu1777Val	rs183879938	missense variant	-	NC_000014.9:g.95093923G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1777His	rs780545199	missense variant	-	NC_000014.9:g.95093922A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1777Phe	rs183879938	missense variant	-	NC_000014.9:g.95093923G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1779Glu	RCV000525934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093917T>C	ClinVar
DICER1	Q9UPY3	p.Lys1779Glu	rs1555366685	missense variant	-	NC_000014.9:g.95093917T>C	-
DICER1	Q9UPY3	p.Met1782Ile	RCV000540658	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093906C>T	ClinVar
DICER1	Q9UPY3	p.Met1782Ile	rs1555366679	missense variant	-	NC_000014.9:g.95093906C>T	-
DICER1	Q9UPY3	p.Arg1790Lys	RCV000692578	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091361C>T	ClinVar
DICER1	Q9UPY3	p.Ser1792Pro	RCV000470444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091356A>G	ClinVar
DICER1	Q9UPY3	p.Ser1792Cys	RCV000565494	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091355G>C	ClinVar
DICER1	Q9UPY3	p.Ser1792Pro	rs1060503651	missense variant	-	NC_000014.9:g.95091356A>G	-
DICER1	Q9UPY3	p.Ser1792Cys	rs1225830476	missense variant	-	NC_000014.9:g.95091355G>C	TOPMed
DICER1	Q9UPY3	p.Glu1794Asp	rs766285402	missense variant	-	NC_000014.9:g.95091348C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1795Glu	rs1465785637	missense variant	-	NC_000014.9:g.95091345A>T	gnomAD
DICER1	Q9UPY3	p.Glu1799Ter	RCV000240936	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
DICER1	Q9UPY3	p.del1799del	RCV000240936	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
DICER1	Q9UPY3	p.Met1808Val	RCV000554604	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091308T>C	ClinVar
DICER1	Q9UPY3	p.Met1808Leu	rs763241498	missense variant	-	NC_000014.9:g.95091308T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1808Val	rs763241498	missense variant	-	NC_000014.9:g.95091308T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1810Asn	rs775912475	missense variant	-	NC_000014.9:g.95091302C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1810Asn	rs775912475	missense variant	-	NC_000014.9:g.95091302C>T	UniProt,dbSNP
DICER1	Q9UPY3	p.Asp1810Asn	VAR_067096	missense variant	-	NC_000014.9:g.95091302C>T	UniProt
DICER1	Q9UPY3	p.Asp1810Tyr	VAR_067097	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1810His	VAR_067095	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Gln	VAR_067100	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Lys	VAR_067099	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Gly	VAR_067098	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Ser1814Leu	RCV000762934	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95091289G>A	ClinVar
DICER1	Q9UPY3	p.Ser1814Leu	RCV000851480	missense variant	-	NC_000014.9:g.95091289G>A	ClinVar
DICER1	Q9UPY3	p.Ser1814Leu	rs1060503625	missense variant	-	NC_000014.9:g.95091289G>A	-
DICER1	Q9UPY3	p.Leu1815Phe	rs1282259682	missense variant	-	NC_000014.9:g.95091287G>A	gnomAD
DICER1	Q9UPY3	p.Ala1816Val	rs1244996889	missense variant	-	NC_000014.9:g.95091283G>A	gnomAD
DICER1	Q9UPY3	p.Met1821Val	RCV000457347	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>C	ClinVar
DICER1	Q9UPY3	p.Met1821Leu	RCV000458610	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>G	ClinVar
DICER1	Q9UPY3	p.Met1821Val	rs1060503604	missense variant	-	NC_000014.9:g.95091269T>C	gnomAD
DICER1	Q9UPY3	p.Met1821Leu	rs1060503604	missense variant	-	NC_000014.9:g.95091269T>G	gnomAD
DICER1	Q9UPY3	p.Met1821Lys	rs1412965790	missense variant	-	NC_000014.9:g.95091268A>T	TOPMed
DICER1	Q9UPY3	p.Asp1822Gly	RCV000492838	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091265T>C	ClinVar
DICER1	Q9UPY3	p.Asp1822Val	RCV000240872	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091265T>A	ClinVar
DICER1	Q9UPY3	p.Asp1822Gly	rs886037729	missense variant	-	NC_000014.9:g.95091265T>C	-
DICER1	Q9UPY3	p.Gly1824Val	RCV000459341	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091259C>A	ClinVar
DICER1	Q9UPY3	p.Gly1824Val	RCV000564741	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091259C>A	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	RCV000563783	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091260C>G	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	RCV000693668	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091260C>G	ClinVar
DICER1	Q9UPY3	p.Gly1824Val	rs377685186	missense variant	-	NC_000014.9:g.95091259C>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1824Arg	rs752411788	missense variant	-	NC_000014.9:g.95091260C>G	-
DICER1	Q9UPY3	p.Leu1827Ter	RCV000851481	frameshift	-	NC_000014.9:g.95091251del	ClinVar
DICER1	Q9UPY3	p.Leu1827Ter	RCV000529758	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091251del	ClinVar
DICER1	Q9UPY3	p.Thr1829Ile	RCV000654397	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091244G>A	ClinVar
DICER1	Q9UPY3	p.Thr1829Ile	rs1555366196	missense variant	-	NC_000014.9:g.95091244G>A	-
DICER1	Q9UPY3	p.Gln1832Arg	RCV000700964	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091235T>C	ClinVar
DICER1	Q9UPY3	p.Gln1832Ter	RCV000474798	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091236G>A	ClinVar
DICER1	Q9UPY3	p.Gln1832His	rs1344743618	missense variant	-	NC_000014.9:g.95091234C>G	gnomAD
DICER1	Q9UPY3	p.Gln1832Glu	rs1060503583	missense variant	-	NC_000014.9:g.95091236G>C	gnomAD
DICER1	Q9UPY3	p.Gln1832Ter	rs1060503583	stop gained	-	NC_000014.9:g.95091236G>A	gnomAD
DICER1	Q9UPY3	p.Val1833Gly	rs1324448543	missense variant	-	NC_000014.9:g.95091232A>C	gnomAD
DICER1	Q9UPY3	p.Tyr1835Ter	RCV000706258	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091223_95091226del	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000460203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Ser	RCV000570256	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>G	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000851482	missense variant	-	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000569795	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Ser	rs747510783	missense variant	-	NC_000014.9:g.95091226T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1835Cys	rs747510783	missense variant	-	NC_000014.9:g.95091226T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1835His	rs1407335437	missense variant	-	NC_000014.9:g.95091227A>G	gnomAD
DICER1	Q9UPY3	p.Tyr1835Ser	RCV000687902	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>G	ClinVar
DICER1	Q9UPY3	p.Pro1836Leu	rs187288681	missense variant	-	NC_000014.9:g.95091223G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1836His	rs187288681	missense variant	-	NC_000014.9:g.95091223G>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met1837Ile	rs747798126	missense variant	-	NC_000014.9:g.95091219C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1838Ile	rs1187244456	missense variant	-	NC_000014.9:g.95091216C>T	gnomAD
DICER1	Q9UPY3	p.Arg1839Gln	RCV000476806	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091214C>T	ClinVar
DICER1	Q9UPY3	p.Arg1839Gln	RCV000566657	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091214C>T	ClinVar
DICER1	Q9UPY3	p.Arg1839Trp	RCV000698396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091215G>A	ClinVar
DICER1	Q9UPY3	p.Arg1839Gln	rs587778233	missense variant	-	NC_000014.9:g.95091214C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1839Trp	rs1447120867	missense variant	-	NC_000014.9:g.95091215G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1839Trp	RCV000572507	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091215G>A	ClinVar
DICER1	Q9UPY3	p.Leu1841Pro	rs754642180	missense variant	-	NC_000014.9:g.95091208A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1842Val	rs749059266	missense variant	-	NC_000014.9:g.95091206T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1842Val	RCV000227985	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091206T>C	ClinVar
DICER1	Q9UPY3	p.Lys1844Asn	rs1360182417	missense variant	-	NC_000014.9:g.95091105C>G	gnomAD
DICER1	Q9UPY3	p.Ala1847Thr	rs1412433775	missense variant	-	NC_000014.9:g.95091098C>T	TOPMed
DICER1	Q9UPY3	p.Asn1848Asp	rs748931250	missense variant	-	NC_000014.9:g.95091095T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1851His	rs1426678586	missense variant	-	NC_000014.9:g.95091085C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1860Ile	rs1228225906	missense variant	-	NC_000014.9:g.95091057C>T	TOPMed
DICER1	Q9UPY3	p.Pro1869Leu	rs1459884777	missense variant	-	NC_000014.9:g.95090661G>A	gnomAD
DICER1	Q9UPY3	p.Pro1869Leu	RCV000654379	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090661G>A	ClinVar
DICER1	Q9UPY3	p.Ala1870Ser	rs1555366012	missense variant	-	NC_000014.9:g.95090659C>A	-
DICER1	Q9UPY3	p.Asp1875Asn	rs745601023	missense variant	-	NC_000014.9:g.95090644C>T	ExAC
DICER1	Q9UPY3	p.Asp1875Tyr	rs745601023	missense variant	-	NC_000014.9:g.95090644C>A	ExAC
DICER1	Q9UPY3	p.Gly1876Ala	rs1238684646	missense variant	-	NC_000014.9:g.95090640C>G	gnomAD
DICER1	Q9UPY3	p.Gly1876Arg	rs770962059	missense variant	-	NC_000014.9:g.95090641C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1881Ala	rs746992218	missense variant	-	NC_000014.9:g.95090626T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1883Asp	rs753959216	missense variant	-	NC_000014.9:g.95090618T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1883Gly	rs1299000813	missense variant	-	NC_000014.9:g.95090619T>C	gnomAD
DICER1	Q9UPY3	p.Gly1886Arg	RCV000696981	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090611C>G	ClinVar
DICER1	Q9UPY3	p.Gly1892Ala	rs756385724	missense variant	-	NC_000014.9:g.95090592C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1893Ile	RCV000561341	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090590C>T	ClinVar
DICER1	Q9UPY3	p.Val1893Ala	RCV000575385	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090589A>G	ClinVar
DICER1	Q9UPY3	p.Val1893Ala	RCV000823022	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090589A>G	ClinVar
DICER1	Q9UPY3	p.Val1893Ile	rs1555365992	missense variant	-	NC_000014.9:g.95090590C>T	-
DICER1	Q9UPY3	p.Val1893Ala	rs1555365989	missense variant	-	NC_000014.9:g.95090589A>G	-
DICER1	Q9UPY3	p.Arg1898Gly	VAR_081920	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Arg1910Pro	RCV000556473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090538C>G	ClinVar
DICER1	Q9UPY3	p.Arg1910Pro	rs1555365979	missense variant	-	NC_000014.9:g.95090538C>G	-
DICER1	Q9UPY3	p.Arg1910Ter	rs762281340	stop gained	-	NC_000014.9:g.95090539G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1913Arg	RCV000474828	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	RCV000564664	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	RCV000765190	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	rs752116341	missense variant	-	NC_000014.9:g.95090529T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1913Arg	RCV000389746	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Asn1915Ser	rs1178537434	missense variant	-	NC_000014.9:g.95090523T>C	TOPMed
DICER1	Q9UPY3	p.Gln1916Ter	RCV000654413	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090521G>A	ClinVar
DICER1	Q9UPY3	p.Gln1916Ter	rs1253131536	stop gained	-	NC_000014.9:g.95090521G>A	TOPMed
DICER1	Q9UPY3	p.Pro1917Arg	RCV000564271	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090517G>C	ClinVar
DICER1	Q9UPY3	p.Pro1917Arg	rs1555365972	missense variant	-	NC_000014.9:g.95090517G>C	-
DICER1	Q9UPY3	p.Gln1918Leu	rs1451403510	missense variant	-	NC_000014.9:g.95090514T>A	gnomAD
DICER1	Q9UPY3	p.Gln1918Arg	rs1451403510	missense variant	-	NC_000014.9:g.95090514T>C	gnomAD
DICER1	Q9UPY3	p.Val1919Ile	rs762301997	missense variant	-	NC_000014.9:g.95090512C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1921Ser	RCV000574482	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090505T>C	ClinVar
DICER1	Q9UPY3	p.Asn1921Ser	RCV000538520	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090505T>C	ClinVar
DICER1	Q9UPY3	p.Asn1921Ser	rs764747360	missense variant	-	NC_000014.9:g.95090505T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1921His	rs775077210	missense variant	-	NC_000014.9:g.95090506T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1922Asn	rs1220636958	missense variant	-	NC_000014.9:g.95090502C>T	gnomAD
DICER1	Q9UPY3	p.Ser1922Arg	rs912470196	missense variant	-	NC_000014.9:g.95090501G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1Thr	RCV000227003	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133457A>G	ClinVar
DICER1	Q9UPY3	p.Met1Thr	RCV000562389	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133457A>G	ClinVar
DICER1	Q9UPY3	p.Lys2Asn	rs1416298002	missense variant	-	NC_000014.9:g.95133453T>G	gnomAD
DICER1	Q9UPY3	p.Pro4Ser	rs772433602	missense variant	-	NC_000014.9:g.95133449G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu6Phe	rs777350127	missense variant	-	NC_000014.9:g.95133441C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln7Arg	rs117358479	missense variant	-	NC_000014.9:g.95133439T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln7Arg	RCV000206043	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133439T>C	ClinVar
DICER1	Q9UPY3	p.Pro8Ser	rs748788519	missense variant	-	NC_000014.9:g.95133437G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu9Phe	RCV000654432	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133434G>A	ClinVar
DICER1	Q9UPY3	p.Leu9Phe	rs1482976224	missense variant	-	NC_000014.9:g.95133434G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly13Asp	RCV000476538	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133421C>T	ClinVar
DICER1	Q9UPY3	p.Gly13Asp	rs1060503610	missense variant	-	NC_000014.9:g.95133421C>T	-
DICER1	Q9UPY3	p.Leu14Met	rs779753946	missense variant	-	NC_000014.9:g.95133419G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln15Arg	rs1555376589	missense variant	-	NC_000014.9:g.95133415T>C	-
DICER1	Q9UPY3	p.Gln15Arg	RCV000654403	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133415T>C	ClinVar
DICER1	Q9UPY3	p.Met17Leu	RCV000654398	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133410T>G	ClinVar
DICER1	Q9UPY3	p.Met17Leu	rs1555376587	missense variant	-	NC_000014.9:g.95133410T>G	-
DICER1	Q9UPY3	p.Pro19Thr	RCV000468835	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133404G>T	ClinVar
DICER1	Q9UPY3	p.Pro19Leu	RCV000120632	missense variant	-	NC_000014.9:g.95133403G>A	ClinVar
DICER1	Q9UPY3	p.Pro19Leu	rs587778227	missense variant	-	NC_000014.9:g.95133403G>A	gnomAD
DICER1	Q9UPY3	p.Pro19Thr	rs1060503638	missense variant	-	NC_000014.9:g.95133404G>T	-
DICER1	Q9UPY3	p.Ala20Thr	RCV000654440	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133401C>T	ClinVar
DICER1	Q9UPY3	p.Ala20Val	RCV000120633	missense variant	-	NC_000014.9:g.95133400G>A	ClinVar
DICER1	Q9UPY3	p.Ala20Val	rs147660793	missense variant	-	NC_000014.9:g.95133400G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala20Thr	rs1555376579	missense variant	-	NC_000014.9:g.95133401C>T	-
DICER1	Q9UPY3	p.Ser21Phe	rs1289924579	missense variant	-	NC_000014.9:g.95133397G>A	gnomAD
DICER1	Q9UPY3	p.Ser22Leu	RCV000461365	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133394G>A	ClinVar
DICER1	Q9UPY3	p.Ser22Leu	rs1060503626	missense variant	-	NC_000014.9:g.95133394G>A	gnomAD
DICER1	Q9UPY3	p.Pro23Ser	RCV000531961	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133392G>A	ClinVar
DICER1	Q9UPY3	p.Pro23Ser	rs1555376567	missense variant	-	NC_000014.9:g.95133392G>A	-
DICER1	Q9UPY3	p.Met24Val	RCV000226545	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133389T>C	ClinVar
DICER1	Q9UPY3	p.Met24Ile	RCV000804944	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133387C>T	ClinVar
DICER1	Q9UPY3	p.Met24Ile	RCV000572085	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133387C>T	ClinVar
DICER1	Q9UPY3	p.Met24Ile	rs751520020	missense variant	-	NC_000014.9:g.95133387C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Met24Ile	rs751520020	missense variant	-	NC_000014.9:g.95133387C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Met24Thr	rs1349780844	missense variant	-	NC_000014.9:g.95133388A>G	gnomAD
DICER1	Q9UPY3	p.Met24Val	rs754439528	missense variant	-	NC_000014.9:g.95133389T>C	TOPMed
DICER1	Q9UPY3	p.Met24Val	RCV000563130	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133389T>C	ClinVar
DICER1	Q9UPY3	p.Gly25Asp	RCV000561019	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133385C>T	ClinVar
DICER1	Q9UPY3	p.Gly25Asp	rs1555376566	missense variant	-	NC_000014.9:g.95133385C>T	-
DICER1	Q9UPY3	p.Pro26Leu	RCV000761003	missense variant	Medulloblastoma (MDB)	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	RCV000537230	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	RCV000565379	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133382G>A	ClinVar
DICER1	Q9UPY3	p.Pro26Leu	rs201358110	missense variant	-	NC_000014.9:g.95133382G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Phe27Leu	RCV000654388	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133378G>C	ClinVar
DICER1	Q9UPY3	p.Phe27Leu	rs1555376563	missense variant	-	NC_000014.9:g.95133378G>C	-
DICER1	Q9UPY3	p.Phe28Cys	rs61729796	missense variant	-	NC_000014.9:g.95133376A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe28Ser	RCV000460921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133376A>G	ClinVar
DICER1	Q9UPY3	p.Phe28Val	rs1333617601	missense variant	-	NC_000014.9:g.95133377A>C	gnomAD
DICER1	Q9UPY3	p.Phe28Ser	rs61729796	missense variant	-	NC_000014.9:g.95133376A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly29Ala	rs766491650	missense variant	-	NC_000014.9:g.95133373C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln33His	rs773456851	missense variant	-	NC_000014.9:g.95133360T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln34Ter	RCV000654373	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133359G>A	ClinVar
DICER1	Q9UPY3	p.Gln34Ter	rs1555376548	stop gained	-	NC_000014.9:g.95133359G>A	-
DICER1	Q9UPY3	p.Ile37Phe	RCV000471095	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133350T>A	ClinVar
DICER1	Q9UPY3	p.Ile37Phe	rs772381832	missense variant	-	NC_000014.9:g.95133350T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp39Gly	rs748564911	missense variant	-	NC_000014.9:g.95133343T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn40Asp	rs1482582825	missense variant	-	NC_000014.9:g.95133341T>C	gnomAD
DICER1	Q9UPY3	p.Thr43Arg	RCV000497812	missense variant	-	NC_000014.9:g.95133331G>C	ClinVar
DICER1	Q9UPY3	p.Thr43Met	RCV000571554	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133331G>A	ClinVar
DICER1	Q9UPY3	p.Thr43Met	RCV000474678	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133331G>A	ClinVar
DICER1	Q9UPY3	p.Thr43Met	rs367797765	missense variant	-	NC_000014.9:g.95133331G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr43Arg	rs367797765	missense variant	-	NC_000014.9:g.95133331G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys46Gln	RCV000699235	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133323T>G	ClinVar
DICER1	Q9UPY3	p.Val49Leu	RCV000563819	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132677C>G	ClinVar
DICER1	Q9UPY3	p.Val49Ala	RCV000456605	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132676A>G	ClinVar
DICER1	Q9UPY3	p.Val49Leu	rs1555376413	missense variant	-	NC_000014.9:g.95132677C>G	-
DICER1	Q9UPY3	p.Val49Ala	rs1060503624	missense variant	-	NC_000014.9:g.95132676A>G	-
DICER1	Q9UPY3	p.Ala55Pro	rs769164427	missense variant	-	NC_000014.9:g.95132659C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala55Thr	rs769164427	missense variant	-	NC_000014.9:g.95132659C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala55Thr	RCV000539270	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132659C>T	ClinVar
DICER1	Q9UPY3	p.Asp57His	rs570871959	missense variant	-	NC_000014.9:g.95132653C>G	1000Genomes,ExAC
DICER1	Q9UPY3	p.His58Asp	RCV000552718	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132650G>C	ClinVar
DICER1	Q9UPY3	p.His58Asp	rs1555376409	missense variant	-	NC_000014.9:g.95132650G>C	-
DICER1	Q9UPY3	p.Asn59Asp	rs1368593353	missense variant	-	NC_000014.9:g.95132647T>C	gnomAD
DICER1	Q9UPY3	p.Thr60Ile	RCV000567350	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132643G>A	ClinVar
DICER1	Q9UPY3	p.Thr60Ile	RCV000230149	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132643G>A	ClinVar
DICER1	Q9UPY3	p.Thr60Ile	rs587778228	missense variant	-	NC_000014.9:g.95132643G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile61Val	RCV000458877	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132641T>C	ClinVar
DICER1	Q9UPY3	p.Ile61Val	rs1060503646	missense variant	-	NC_000014.9:g.95132641T>C	-
DICER1	Q9UPY3	p.Val62Ile	RCV000654380	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132638C>T	ClinVar
DICER1	Q9UPY3	p.Val62Ile	rs746671039	missense variant	-	NC_000014.9:g.95132638C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu64Phe	RCV000531832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132630T>A	ClinVar
DICER1	Q9UPY3	p.Leu64Phe	rs1231822339	missense variant	-	NC_000014.9:g.95132630T>A	TOPMed
DICER1	Q9UPY3	p.Thr66Ala	RCV000654470	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132626T>C	ClinVar
DICER1	Q9UPY3	p.Thr66Ile	rs777362732	missense variant	-	NC_000014.9:g.95132625G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr66Ala	rs1555376402	missense variant	-	NC_000014.9:g.95132626T>C	-
DICER1	Q9UPY3	p.Thr71Arg	rs376657431	missense variant	-	NC_000014.9:g.95132610G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile73Thr	rs1312551730	missense variant	-	NC_000014.9:g.95132604A>G	TOPMed
DICER1	Q9UPY3	p.Ala74Leu	RCV000690532	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132601_95132602delinsAA	ClinVar
DICER1	Q9UPY3	p.Ala74Val	rs200331768	missense variant	-	NC_000014.9:g.95132601G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala74Ser	rs202181696	missense variant	-	NC_000014.9:g.95132602C>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val75Leu	rs899822269	missense variant	-	NC_000014.9:g.95132599C>A	TOPMed
DICER1	Q9UPY3	p.Thr78Ala	RCV000696264	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132590T>C	ClinVar
DICER1	Q9UPY3	p.Glu80Val	rs1249513421	missense variant	-	NC_000014.9:g.95132583T>A	TOPMed
DICER1	Q9UPY3	p.Ser82Tyr	rs751813700	missense variant	-	NC_000014.9:g.95132577G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr83Cys	RCV000231291	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132574T>C	ClinVar
DICER1	Q9UPY3	p.Tyr83Cys	RCV000574980	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132574T>C	ClinVar
DICER1	Q9UPY3	p.Tyr83Cys	rs373646414	missense variant	-	NC_000014.9:g.95132574T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile85Met	RCV000573094	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132567G>C	ClinVar
DICER1	Q9UPY3	p.Ile85Met	rs763422772	missense variant	-	NC_000014.9:g.95132567G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg86Gly	RCV000569742	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132566T>C	ClinVar
DICER1	Q9UPY3	p.Arg86Ter	RCV000534037	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132566del	ClinVar
DICER1	Q9UPY3	p.Arg86Gly	rs1555376374	missense variant	-	NC_000014.9:g.95132566T>C	-
DICER1	Q9UPY3	p.Asp88Val	rs775828379	missense variant	-	NC_000014.9:g.95132559T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp88Val	RCV000472522	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132559T>A	ClinVar
DICER1	Q9UPY3	p.Arg91Lys	rs878855252	missense variant	-	NC_000014.9:g.95132550C>T	gnomAD
DICER1	Q9UPY3	p.Arg91Lys	RCV000225966	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132550C>T	ClinVar
DICER1	Q9UPY3	p.Gly93Glu	RCV000465833	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132544C>T	ClinVar
DICER1	Q9UPY3	p.Gly93Glu	rs776219930	missense variant	-	NC_000014.9:g.95132544C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly93Glu	RCV000564923	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132544C>T	ClinVar
DICER1	Q9UPY3	p.Arg95Ter	RCV000558690	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132542_95132543dup	ClinVar
DICER1	Q9UPY3	p.Thr96Met	rs770567567	missense variant	-	NC_000014.9:g.95132535G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val97Ala	RCV000464977	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132532A>G	ClinVar
DICER1	Q9UPY3	p.Val97Ala	rs1060503582	missense variant	-	NC_000014.9:g.95132532A>G	-
DICER1	Q9UPY3	p.Val100Gly	rs1390907504	missense variant	-	NC_000014.9:g.95132523A>C	TOPMed
DICER1	Q9UPY3	p.Ala107Val	RCV000465807	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131627G>A	ClinVar
DICER1	Q9UPY3	p.Ala107Val	rs1060503655	missense variant	-	NC_000014.9:g.95131627G>A	-
DICER1	Q9UPY3	p.Gln108Arg	RCV000688162	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131624T>C	ClinVar
DICER1	Q9UPY3	p.Val110Met	RCV000654424	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131619C>T	ClinVar
DICER1	Q9UPY3	p.Val110Met	rs1555376190	missense variant	-	NC_000014.9:g.95131619C>T	-
DICER1	Q9UPY3	p.Ala112Val	RCV000542109	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131612G>A	ClinVar
DICER1	Q9UPY3	p.Ala112Val	rs1555376185	missense variant	-	NC_000014.9:g.95131612G>A	-
DICER1	Q9UPY3	p.Asp118Val	rs1442952372	missense variant	-	NC_000014.9:g.95131594T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp118Ala	rs1442952372	missense variant	-	NC_000014.9:g.95131594T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp118Asn	rs557182925	missense variant	-	NC_000014.9:g.95131595C>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu119Phe	RCV000457510	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131592G>A	ClinVar
DICER1	Q9UPY3	p.Leu119Phe	rs1060503661	missense variant	-	NC_000014.9:g.95131592G>A	-
DICER1	Q9UPY3	p.Leu119His	rs760049904	missense variant	-	NC_000014.9:g.95131591A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys120Met	RCV000474331	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	RCV000765199	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	RCV000566901	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131588T>A	ClinVar
DICER1	Q9UPY3	p.Lys120Met	rs1060503608	missense variant	-	NC_000014.9:g.95131588T>A	gnomAD
DICER1	Q9UPY3	p.Glu123Ter	rs1482258814	stop gained	-	NC_000014.9:g.95131580C>A	gnomAD
DICER1	Q9UPY3	p.Ser125Leu	RCV000654365	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131573G>A	ClinVar
DICER1	Q9UPY3	p.Ser125Leu	rs377669634	missense variant	-	NC_000014.9:g.95131573G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn126Asp	RCV000568690	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131571T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Ser	RCV000464564	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131570T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Asp	RCV000803170	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131571T>C	ClinVar
DICER1	Q9UPY3	p.Asn126Asp	rs373734886	missense variant	-	NC_000014.9:g.95131571T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn126Ser	rs1060503593	missense variant	-	NC_000014.9:g.95131570T>C	-
DICER1	Q9UPY3	p.Leu127Val	RCV000559895	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131568G>C	ClinVar
DICER1	Q9UPY3	p.Leu127Val	rs560739585	missense variant	-	NC_000014.9:g.95131568G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu127Val	RCV000567723	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131568G>C	ClinVar
DICER1	Q9UPY3	p.Glu128Ala	RCV000702359	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131564T>G	ClinVar
DICER1	Q9UPY3	p.Glu128Ala	rs1345117803	missense variant	-	NC_000014.9:g.95131564T>G	TOPMed
DICER1	Q9UPY3	p.Ala131Val	rs774138190	missense variant	-	NC_000014.9:g.95131555G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu136Ala	RCV000554347	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131540T>G	ClinVar
DICER1	Q9UPY3	p.Glu136Gln	rs768445477	missense variant	-	NC_000014.9:g.95131541C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu136Ala	rs1037879170	missense variant	-	NC_000014.9:g.95131540T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe142Leu	rs780014291	missense variant	-	NC_000014.9:g.95131521A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr143Ala	RCV000458595	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131520T>C	ClinVar
DICER1	Q9UPY3	p.Thr143Ala	rs1060503612	missense variant	-	NC_000014.9:g.95131520T>C	gnomAD
DICER1	Q9UPY3	p.Lys144Asn	RCV000654392	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131515C>G	ClinVar
DICER1	Q9UPY3	p.Lys144Met	RCV000471774	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131516T>A	ClinVar
DICER1	Q9UPY3	p.Lys144Met	rs1060503629	missense variant	-	NC_000014.9:g.95131516T>A	-
DICER1	Q9UPY3	p.Lys144Asn	rs370784723	missense variant	-	NC_000014.9:g.95131515C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His145Arg	rs747179239	missense variant	-	NC_000014.9:g.95131513T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.His145Gln	rs1473045432	missense variant	-	NC_000014.9:g.95131512G>C	gnomAD
DICER1	Q9UPY3	p.Val147Phe	RCV000692554	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130192C>A	ClinVar
DICER1	Q9UPY3	p.Ile149Thr	RCV000463130	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130185A>G	ClinVar
DICER1	Q9UPY3	p.Ile149Thr	rs549001286	missense variant	-	NC_000014.9:g.95130185A>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met150Leu	RCV000809322	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130183T>A	ClinVar
DICER1	Q9UPY3	p.Met150Leu	RCV000568271	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130183T>A	ClinVar
DICER1	Q9UPY3	p.Met150Val	rs1447817443	missense variant	-	NC_000014.9:g.95130183T>C	gnomAD
DICER1	Q9UPY3	p.Met150Leu	rs1447817443	missense variant	-	NC_000014.9:g.95130183T>A	gnomAD
DICER1	Q9UPY3	p.Tyr153Cys	rs769827245	missense variant	-	NC_000014.9:g.95130173T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val154Ter	RCV000524590	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130172dup	ClinVar
DICER1	Q9UPY3	p.Ala155Thr	RCV000227833	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130168C>T	ClinVar
DICER1	Q9UPY3	p.Ala155Thr	rs745802492	missense variant	-	NC_000014.9:g.95130168C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys160Glu	rs777839118	missense variant	-	NC_000014.9:g.95130153T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn161His	rs373532001	missense variant	-	NC_000014.9:g.95130150T>G	ESP,ExAC
DICER1	Q9UPY3	p.Asn161Asp	rs373532001	missense variant	-	NC_000014.9:g.95130150T>C	ESP,ExAC
DICER1	Q9UPY3	p.Gly162Asp	RCV000494493	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130146C>T	ClinVar
DICER1	Q9UPY3	p.Gly162Asp	rs142815547	missense variant	-	NC_000014.9:g.95130146C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr163Ter	RCV000205672	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130142G>C	ClinVar
DICER1	Q9UPY3	p.Tyr163Asn	rs1274642595	missense variant	-	NC_000014.9:g.95130144A>T	gnomAD
DICER1	Q9UPY3	p.Tyr163His	rs1274642595	missense variant	-	NC_000014.9:g.95130144A>G	gnomAD
DICER1	Q9UPY3	p.Tyr163Ter	rs864622626	stop gained	-	NC_000014.9:g.95130142G>C	-
DICER1	Q9UPY3	p.Ser165Pro	RCV000568030	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130138A>G	ClinVar
DICER1	Q9UPY3	p.Ser165Pro	RCV000476646	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130138A>G	ClinVar
DICER1	Q9UPY3	p.Ser165Pro	rs894664317	missense variant	-	NC_000014.9:g.95130138A>G	TOPMed
DICER1	Q9UPY3	p.Asp175Gly	rs766984054	missense variant	-	NC_000014.9:g.95130107T>C	ExAC
DICER1	Q9UPY3	p.Glu176Val	RCV000654370	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130104T>A	ClinVar
DICER1	Q9UPY3	p.Glu176Lys	rs1177718322	missense variant	-	NC_000014.9:g.95130105C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu176Val	rs756586319	missense variant	-	NC_000014.9:g.95130104T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.His178Leu	rs201239474	missense variant	-	NC_000014.9:g.95130098T>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His178Arg	rs201239474	missense variant	-	NC_000014.9:g.95130098T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala180Ter	RCV000555663	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130096del	ClinVar
DICER1	Q9UPY3	p.Ala180Gly	rs375454363	missense variant	-	NC_000014.9:g.95130092G>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala180Val	rs375454363	missense variant	-	NC_000014.9:g.95130092G>A	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ile181Val	rs761253717	missense variant	-	NC_000014.9:g.95130090T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp183Glu	RCV000460261	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130082G>C	ClinVar
DICER1	Q9UPY3	p.Asp183Glu	rs1060503587	missense variant	-	NC_000014.9:g.95130082G>C	-
DICER1	Q9UPY3	p.Pro185Arg	rs1170562259	missense variant	-	NC_000014.9:g.95130077G>C	gnomAD
DICER1	Q9UPY3	p.Arg187Gln	RCV000543718	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130071C>T	ClinVar
DICER1	Q9UPY3	p.Arg187Gly	RCV000654367	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>C	ClinVar
DICER1	Q9UPY3	p.Arg187Gln	rs775207591	missense variant	-	NC_000014.9:g.95130071C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg187Pro	rs775207591	missense variant	-	NC_000014.9:g.95130071C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg187Gly	rs763801533	missense variant	-	NC_000014.9:g.95130072G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg187Ter	rs763801533	stop gained	-	NC_000014.9:g.95130072G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg187Ter	RCV000206588	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>A	ClinVar
DICER1	Q9UPY3	p.Met190Lys	RCV000568748	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130062A>T	ClinVar
DICER1	Q9UPY3	p.Met190Val	rs769477041	missense variant	-	NC_000014.9:g.95130063T>C	ExAC
DICER1	Q9UPY3	p.Met190Lys	rs1555375918	missense variant	-	NC_000014.9:g.95130062A>T	-
DICER1	Q9UPY3	p.Lys191Arg	rs1162746497	missense variant	-	NC_000014.9:g.95130059T>C	TOPMed
DICER1	Q9UPY3	p.Asn195His	rs770842365	missense variant	-	NC_000014.9:g.95129623T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn195His	RCV000458293	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129623T>G	ClinVar
DICER1	Q9UPY3	p.Pro197Leu	rs1060503642	missense variant	-	NC_000014.9:g.95129616G>A	gnomAD
DICER1	Q9UPY3	p.Pro197Leu	RCV000472039	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129616G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ser	RCV000548749	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129617G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ser	RCV000573122	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129617G>A	ClinVar
DICER1	Q9UPY3	p.Pro197Ser	rs375689793	missense variant	-	NC_000014.9:g.95129617G>A	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro197Ala	rs375689793	missense variant	-	NC_000014.9:g.95129617G>C	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser198Leu	rs1024665554	missense variant	-	NC_000014.9:g.95129613G>A	TOPMed
DICER1	Q9UPY3	p.Arg201Cys	RCV000654448	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129605G>A	ClinVar
DICER1	Q9UPY3	p.Arg201Pro	rs749484792	missense variant	-	NC_000014.9:g.95129604C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201Cys	rs774514314	missense variant	-	NC_000014.9:g.95129605G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg201Leu	rs749484792	missense variant	-	NC_000014.9:g.95129604C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg201Ser	rs774514314	missense variant	-	NC_000014.9:g.95129605G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg201His	rs749484792	missense variant	-	NC_000014.9:g.95129604C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser208Phe	rs1424652177	missense variant	-	NC_000014.9:g.95129583G>A	TOPMed
DICER1	Q9UPY3	p.Leu210Ser	RCV000575811	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129577A>G	ClinVar
DICER1	Q9UPY3	p.Leu210Ser	rs886037730	missense variant	-	NC_000014.9:g.95129577A>G	TOPMed
DICER1	Q9UPY3	p.Leu210Ter	rs886037730	stop gained	-	NC_000014.9:g.95129577A>C	TOPMed
DICER1	Q9UPY3	p.Leu210Ter	RCV000240938	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
DICER1	Q9UPY3	p.del210del	RCV000240938	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
DICER1	Q9UPY3	p.Asn211Asp	rs1392979238	missense variant	-	NC_000014.9:g.95129575T>C	TOPMed
DICER1	Q9UPY3	p.Asp215Asn	rs781713298	missense variant	-	NC_000014.9:g.95129563C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro216Thr	rs757700482	missense variant	-	NC_000014.9:g.95129560G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu217Val	RCV000692066	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129556T>A	ClinVar
DICER1	Q9UPY3	p.Glu218Lys	RCV000474822	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129554C>T	ClinVar
DICER1	Q9UPY3	p.Glu218Lys	rs747514493	missense variant	-	NC_000014.9:g.95129554C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu220Asp	RCV000542050	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129546T>G	ClinVar
DICER1	Q9UPY3	p.Glu220Asp	rs1555375819	missense variant	-	NC_000014.9:g.95129546T>G	-
DICER1	Q9UPY3	p.Glu221Val	RCV000814385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129544T>A	ClinVar
DICER1	Q9UPY3	p.Glu221Val	rs757925350	missense variant	-	NC_000014.9:g.95129544T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu221Val	RCV000569381	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129544T>A	ClinVar
DICER1	Q9UPY3	p.Lys222Glu	rs752322804	missense variant	-	NC_000014.9:g.95129542T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln224Leu	RCV000654408	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129535T>A	ClinVar
DICER1	Q9UPY3	p.Gln224Leu	rs1555375816	missense variant	-	NC_000014.9:g.95129535T>A	-
DICER1	Q9UPY3	p.Lys225Arg	rs1445983492	missense variant	-	NC_000014.9:g.95129532T>C	gnomAD
DICER1	Q9UPY3	p.Lys225Gln	rs764839440	missense variant	-	NC_000014.9:g.95129533T>G	ExAC
DICER1	Q9UPY3	p.Lys228Arg	RCV000463769	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129523T>C	ClinVar
DICER1	Q9UPY3	p.Lys228Arg	rs1060503659	missense variant	-	NC_000014.9:g.95129523T>C	-
DICER1	Q9UPY3	p.Lys231Arg	rs754799308	missense variant	-	NC_000014.9:g.95129514T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn233Ser	rs1465088683	missense variant	-	NC_000014.9:g.95129508T>C	gnomAD
DICER1	Q9UPY3	p.Thr238Ala	rs760627991	missense variant	-	NC_000014.9:g.95129494T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp239Gly	RCV000654445	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129490T>C	ClinVar
DICER1	Q9UPY3	p.Asp239Gly	rs1555375788	missense variant	-	NC_000014.9:g.95129490T>C	-
DICER1	Q9UPY3	p.Leu240Val	rs1060503615	missense variant	-	NC_000014.9:g.95129488G>C	-
DICER1	Q9UPY3	p.Leu240Val	RCV000460684	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129488G>C	ClinVar
DICER1	Q9UPY3	p.Val241Leu	rs1312732514	missense variant	-	NC_000014.9:g.95129485C>A	TOPMed
DICER1	Q9UPY3	p.Val242Ile	rs1290563406	missense variant	-	NC_000014.9:g.95129482C>T	gnomAD
DICER1	Q9UPY3	p.Asp244Gly	rs764223602	missense variant	-	NC_000014.9:g.95129475T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg245Ser	rs767605412	missense variant	-	NC_000014.9:g.95126748C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg245Ser	RCV000531119	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126748C>A	ClinVar
DICER1	Q9UPY3	p.Tyr246Cys	RCV000546158	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126746T>C	ClinVar
DICER1	Q9UPY3	p.Tyr246Cys	rs775370673	missense variant	-	NC_000014.9:g.95126746T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr246Phe	rs775370673	missense variant	-	NC_000014.9:g.95126746T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr247Ala	RCV000560829	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126744T>C	ClinVar
DICER1	Q9UPY3	p.Thr247Ala	rs369189695	missense variant	-	NC_000014.9:g.95126744T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser248Thr	rs759633210	missense variant	-	NC_000014.9:g.95126741A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser248Thr	RCV000463647	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126741A>T	ClinVar
DICER1	Q9UPY3	p.Gln249Ter	rs886037732	stop gained	-	NC_000014.9:g.95126738G>A	-
DICER1	Q9UPY3	p.Gln249Arg	rs776934552	missense variant	-	NC_000014.9:g.95126737T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln249Ter	RCV000240901	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
DICER1	Q9UPY3	p.del249del	RCV000240901	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
DICER1	Q9UPY3	p.Cys251Arg	RCV000654449	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126732A>G	ClinVar
DICER1	Q9UPY3	p.Cys251Tyr	rs1167822359	missense variant	-	NC_000014.9:g.95126731C>T	gnomAD
DICER1	Q9UPY3	p.Cys251Arg	rs1353008772	missense variant	-	NC_000014.9:g.95126732A>G	-
DICER1	Q9UPY3	p.Ile253Ter	RCV000654362	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126726dup	ClinVar
DICER1	Q9UPY3	p.Ile253Val	rs1418479189	missense variant	-	NC_000014.9:g.95126726T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly258Val	RCV000324795	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95126710C>A	ClinVar
DICER1	Q9UPY3	p.Gly258Val	rs188327838	missense variant	-	NC_000014.9:g.95126710C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro259Leu	RCV000576081	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126707G>A	ClinVar
DICER1	Q9UPY3	p.Pro259Leu	RCV000558887	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126707G>A	ClinVar
DICER1	Q9UPY3	p.Pro259Leu	rs566464225	missense variant	-	NC_000014.9:g.95126707G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu266Phe	rs772627278	missense variant	-	NC_000014.9:g.95126687G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu268Gly	RCV000470858	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126680T>C	ClinVar
DICER1	Q9UPY3	p.Glu268Gly	rs774554682	missense variant	-	NC_000014.9:g.95126680T>C	gnomAD
DICER1	Q9UPY3	p.Glu268Lys	rs1251925935	missense variant	-	NC_000014.9:g.95126681C>T	gnomAD
DICER1	Q9UPY3	p.Met272Ile	RCV000699253	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126667C>G	ClinVar
DICER1	Q9UPY3	p.Glu273Ala	RCV000691517	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126665T>G	ClinVar
DICER1	Q9UPY3	p.Leu274Val	RCV000568089	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126663A>C	ClinVar
DICER1	Q9UPY3	p.Leu274Val	rs778219828	missense variant	-	NC_000014.9:g.95126663A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu274Val	RCV000474599	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126663A>C	ClinVar
DICER1	Q9UPY3	p.Glu275Ter	RCV000536462	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126660C>A	ClinVar
DICER1	Q9UPY3	p.Glu275Ter	rs1555375333	stop gained	-	NC_000014.9:g.95126660C>A	-
DICER1	Q9UPY3	p.Ala277Val	RCV000476889	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126653G>A	ClinVar
DICER1	Q9UPY3	p.Ala277Val	rs986916694	missense variant	-	NC_000014.9:g.95126653G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu278Phe	RCV000240941	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126651G>A	ClinVar
DICER1	Q9UPY3	p.Leu278Phe	rs768248216	missense variant	-	NC_000014.9:g.95126651G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn279Tyr	RCV000687219	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126648T>A	ClinVar
DICER1	Q9UPY3	p.Asn279Ser	rs1422024152	missense variant	-	NC_000014.9:g.95126647T>C	TOPMed
DICER1	Q9UPY3	p.Asn279Tyr	rs1345404696	missense variant	-	NC_000014.9:g.95126648T>A	gnomAD
DICER1	Q9UPY3	p.Asp283Val	RCV000686266	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126635T>A	ClinVar
DICER1	Q9UPY3	p.Cys284Tyr	RCV000696424	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126632C>T	ClinVar
DICER1	Q9UPY3	p.Cys284Arg	rs1412252643	missense variant	-	NC_000014.9:g.95126633A>G	gnomAD
DICER1	Q9UPY3	p.Asn285Ser	rs748847398	missense variant	-	NC_000014.9:g.95126629T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn285Ser	RCV000571313	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126629T>C	ClinVar
DICER1	Q9UPY3	p.Ser287Cys	RCV000469952	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126623G>C	ClinVar
DICER1	Q9UPY3	p.Ser287Cys	rs1060503600	missense variant	-	NC_000014.9:g.95126623G>C	-
DICER1	Q9UPY3	p.Val288Ile	RCV000654405	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126621C>T	ClinVar
DICER1	Q9UPY3	p.Val288Ile	rs1555375302	missense variant	-	NC_000014.9:g.95126621C>T	-
DICER1	Q9UPY3	p.Arg293Ter	RCV000493107	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126603_95126606del	ClinVar
DICER1	Q9UPY3	p.Arg293Ter	RCV000493010	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126608del	ClinVar
DICER1	Q9UPY3	p.Arg293Gly	RCV000225818	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126606T>C	ClinVar
DICER1	Q9UPY3	p.Arg293Gly	rs878855277	missense variant	-	NC_000014.9:g.95126606T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg293Ter	RCV000240877	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126603_95126606del	ClinVar
DICER1	Q9UPY3	p.Ser295Cys	rs548231008	missense variant	-	NC_000014.9:g.95126599G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser295Cys	RCV000566029	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126599G>C	ClinVar
DICER1	Q9UPY3	p.Ser299Leu	RCV000232640	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126587G>A	ClinVar
DICER1	Q9UPY3	p.Ser299Leu	RCV000565567	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126587G>A	ClinVar
DICER1	Q9UPY3	p.Ser299Leu	rs755944755	missense variant	-	NC_000014.9:g.95126587G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys300Glu	rs1428486464	missense variant	-	NC_000014.9:g.95126585T>C	gnomAD
DICER1	Q9UPY3	p.Gln301Ter	rs781144010	stop gained	-	NC_000014.9:g.95126582G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln301Glu	rs781144010	missense variant	-	NC_000014.9:g.95126582G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln301Ter	RCV000526362	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126582G>A	ClinVar
DICER1	Q9UPY3	p.Ile302Leu	RCV000654366	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124668T>G	ClinVar
DICER1	Q9UPY3	p.Ile302Leu	rs1555374864	missense variant	-	NC_000014.9:g.95124668T>G	-
DICER1	Q9UPY3	p.Arg307His	RCV000226203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124652C>T	ClinVar
DICER1	Q9UPY3	p.Arg307Cys	RCV000551570	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124653G>A	ClinVar
DICER1	Q9UPY3	p.Arg307Cys	RCV000568506	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124653G>A	ClinVar
DICER1	Q9UPY3	p.Arg307His	RCV000570173	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124652C>T	ClinVar
DICER1	Q9UPY3	p.Arg307His	rs149718671	missense variant	-	NC_000014.9:g.95124652C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg307Gly	rs772431718	missense variant	-	NC_000014.9:g.95124653G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg307Cys	rs772431718	missense variant	-	NC_000014.9:g.95124653G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala308Thr	rs1047347414	missense variant	-	NC_000014.9:g.95124650C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala308Ser	rs1047347414	missense variant	-	NC_000014.9:g.95124650C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val309Ile	RCV000569084	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124647C>T	ClinVar
DICER1	Q9UPY3	p.Val309Ile	RCV000525307	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124647C>T	ClinVar
DICER1	Q9UPY3	p.Val309Ile	rs1181141404	missense variant	-	NC_000014.9:g.95124647C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu313Ter	RCV000493641	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124635dup	ClinVar
DICER1	Q9UPY3	p.Pro315Leu	rs956714281	missense variant	-	NC_000014.9:g.95124628G>A	TOPMed
DICER1	Q9UPY3	p.Trp316Ter	RCV000493574	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124612_95124625del	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	RCV000654416	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124625C>T	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	RCV000851487	nonsense	-	NC_000014.9:g.95124625C>T	ClinVar
DICER1	Q9UPY3	p.Trp316Ter	rs1555374839	stop gained	-	NC_000014.9:g.95124625C>T	-
DICER1	Q9UPY3	p.Lys320Arg	RCV000463070	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124613T>C	ClinVar
DICER1	Q9UPY3	p.Lys320Arg	rs779851333	missense variant	-	NC_000014.9:g.95124613T>C	ExAC
DICER1	Q9UPY3	p.Lys320Glu	rs1461043339	missense variant	-	NC_000014.9:g.95124614T>C	gnomAD
DICER1	Q9UPY3	p.Val321Ala	rs769510530	missense variant	-	NC_000014.9:g.95124610A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly323Val	RCV000563980	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124604C>A	ClinVar
DICER1	Q9UPY3	p.Gly323Val	RCV000540314	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124604C>A	ClinVar
DICER1	Q9UPY3	p.Gly323Val	rs906299601	missense variant	-	NC_000014.9:g.95124604C>A	gnomAD
DICER1	Q9UPY3	p.Met324Ile	RCV000654395	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124600C>T	ClinVar
DICER1	Q9UPY3	p.Met324Ile	rs1555374806	missense variant	-	NC_000014.9:g.95124600C>T	-
DICER1	Q9UPY3	p.Met324Val	rs1452957166	missense variant	-	NC_000014.9:g.95124602T>C	gnomAD
DICER1	Q9UPY3	p.Met325Val	RCV000654430	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124599T>C	ClinVar
DICER1	Q9UPY3	p.Met325Ile	rs1260695579	missense variant	-	NC_000014.9:g.95124597C>T	gnomAD
DICER1	Q9UPY3	p.Met325Val	rs1555374801	missense variant	-	NC_000014.9:g.95124599T>C	-
DICER1	Q9UPY3	p.Val326Ile	RCV000654443	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>T	ClinVar
DICER1	Q9UPY3	p.Val326Leu	RCV000566754	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124596C>G	ClinVar
DICER1	Q9UPY3	p.Val326Leu	RCV000654393	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>G	ClinVar
DICER1	Q9UPY3	p.Val326Leu	rs1555374798	missense variant	-	NC_000014.9:g.95124596C>G	-
DICER1	Q9UPY3	p.Val326Ile	rs1555374798	missense variant	-	NC_000014.9:g.95124596C>T	-
DICER1	Q9UPY3	p.Arg327Gly	RCV000554989	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124593T>C	ClinVar
DICER1	Q9UPY3	p.Arg327Gly	rs1555374797	missense variant	-	NC_000014.9:g.95124593T>C	-
DICER1	Q9UPY3	p.Tyr332Ter	RCV000240904	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124576G>T	ClinVar
DICER1	Q9UPY3	p.Tyr332Ter	rs757094384	stop gained	-	NC_000014.9:g.95124576G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His335Gln	RCV000696809	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124567A>C	ClinVar
DICER1	Q9UPY3	p.His335Arg	RCV000471033	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124568T>C	ClinVar
DICER1	Q9UPY3	p.His335Arg	RCV000573917	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124568T>C	ClinVar
DICER1	Q9UPY3	p.His335Tyr	rs556647675	missense variant	-	NC_000014.9:g.95124569G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.His335Arg	rs1060503602	missense variant	-	NC_000014.9:g.95124568T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln337His	RCV000692200	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124561T>G	ClinVar
DICER1	Q9UPY3	p.Gln337His	rs1383771176	missense variant	-	NC_000014.9:g.95124561T>G	gnomAD
DICER1	Q9UPY3	p.Glu338Ala	RCV000120644	missense variant	-	NC_000014.9:g.95124559T>G	ClinVar
DICER1	Q9UPY3	p.Glu338Ala	rs587778232	missense variant	-	NC_000014.9:g.95124559T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu339Leu	RCV000535438	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124556_95124557delinsAA	ClinVar
DICER1	Q9UPY3	p.Glu339Asp	RCV000654438	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124555C>G	ClinVar
DICER1	Q9UPY3	p.Glu339Asp	rs755007541	missense variant	-	NC_000014.9:g.95124555C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu339Leu	rs1555374783	missense variant	-	NC_000014.9:g.95124556_95124557delinsAA	-
DICER1	Q9UPY3	p.Leu340Pro	rs753974932	missense variant	-	NC_000014.9:g.95124553A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg342Ter	RCV000493822	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124548del	ClinVar
DICER1	Q9UPY3	p.Phe344Leu	RCV000533944	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124540A>C	ClinVar
DICER1	Q9UPY3	p.Phe344Ter	RCV000851433	frameshift	-	NC_000014.9:g.95124545dup	ClinVar
DICER1	Q9UPY3	p.Phe344Ter	RCV000550323	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124545dup	ClinVar
DICER1	Q9UPY3	p.Phe344Leu	rs1161765608	missense variant	-	NC_000014.9:g.95124540A>C	gnomAD
DICER1	Q9UPY3	p.Leu346Phe	RCV000695217	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124534C>A	ClinVar
DICER1	Q9UPY3	p.Leu346Ter	rs1444222157	stop gained	-	NC_000014.9:g.95124535A>T	gnomAD
DICER1	Q9UPY3	p.Thr348Ile	rs1195740384	missense variant	-	NC_000014.9:g.95124529G>A	gnomAD
DICER1	Q9UPY3	p.Thr348Ala	RCV000548854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124530T>C	ClinVar
DICER1	Q9UPY3	p.Thr348Ala	rs1555374767	missense variant	-	NC_000014.9:g.95124530T>C	-
DICER1	Q9UPY3	p.Phe351Leu	rs1358609309	missense variant	-	NC_000014.9:g.95124519G>C	gnomAD
DICER1	Q9UPY3	p.His356Arg	RCV000561726	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124505T>C	ClinVar
DICER1	Q9UPY3	p.His356Arg	rs1212942890	missense variant	-	NC_000014.9:g.95124505T>C	TOPMed
DICER1	Q9UPY3	p.Ala357Val	RCV000542132	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124502G>A	ClinVar
DICER1	Q9UPY3	p.Ala357Val	rs1555374756	missense variant	-	NC_000014.9:g.95124502G>A	-
DICER1	Q9UPY3	p.Ala357Thr	rs760821185	missense variant	-	NC_000014.9:g.95124503C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu361Lys	RCV000566742	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124491C>T	ClinVar
DICER1	Q9UPY3	p.Glu361Lys	rs878855238	missense variant	-	NC_000014.9:g.95124491C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu361Lys	RCV000232128	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124491C>T	ClinVar
DICER1	Q9UPY3	p.His362Arg	RCV000474601	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124487T>C	ClinVar
DICER1	Q9UPY3	p.His362Arg	rs767729028	missense variant	-	NC_000014.9:g.95124487T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe363Leu	rs878855239	missense variant	-	NC_000014.9:g.95124483G>T	gnomAD
DICER1	Q9UPY3	p.Phe363Val	rs762290893	missense variant	-	NC_000014.9:g.95124485A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser364Leu	RCV000654434	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124481G>A	ClinVar
DICER1	Q9UPY3	p.Ser364Leu	rs1555374748	missense variant	-	NC_000014.9:g.95124481G>A	-
DICER1	Q9UPY3	p.Pro365Leu	RCV000467606	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124478G>A	ClinVar
DICER1	Q9UPY3	p.Pro365Arg	rs1060503598	missense variant	-	NC_000014.9:g.95124478G>C	gnomAD
DICER1	Q9UPY3	p.Pro365Leu	rs1060503598	missense variant	-	NC_000014.9:g.95124478G>A	gnomAD
DICER1	Q9UPY3	p.Ala366Val	rs774693190	missense variant	-	NC_000014.9:g.95124475G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu368Ile	RCV000574059	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124470G>T	ClinVar
DICER1	Q9UPY3	p.Leu368Val	RCV000547415	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124470G>C	ClinVar
DICER1	Q9UPY3	p.Leu368Ile	rs1555374747	missense variant	-	NC_000014.9:g.95124470G>T	-
DICER1	Q9UPY3	p.Leu368Val	rs1555374747	missense variant	-	NC_000014.9:g.95124470G>C	-
DICER1	Q9UPY3	p.Asp369Glu	RCV000525847	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124465G>T	ClinVar
DICER1	Q9UPY3	p.Asp369Gly	rs1441684309	missense variant	-	NC_000014.9:g.95124466T>C	TOPMed
DICER1	Q9UPY3	p.Asp369Glu	rs1555374745	missense variant	-	NC_000014.9:g.95124465G>T	-
DICER1	Q9UPY3	p.Leu370Pro	RCV000229751	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124463A>G	ClinVar
DICER1	Q9UPY3	p.Leu370Pro	rs878855240	missense variant	-	NC_000014.9:g.95124463A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val373Leu	RCV000540691	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124455C>G	ClinVar
DICER1	Q9UPY3	p.Val373Leu	rs369145814	missense variant	-	NC_000014.9:g.95124455C>G	ESP,TOPMed
DICER1	Q9UPY3	p.Pro375Arg	RCV000231396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Pro375Arg	RCV000761116	missense variant	Neuroblastoma (NBLST1)	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Pro375Arg	RCV000570796	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124448G>C	ClinVar
DICER1	Q9UPY3	p.Pro375Arg	rs148758903	missense variant	-	NC_000014.9:g.95124448G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val377Ala	rs1390995232	missense variant	-	NC_000014.9:g.95124442A>G	gnomAD
DICER1	Q9UPY3	p.Ile378Met	rs769457054	missense variant	-	NC_000014.9:g.95124438G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile378Asn	rs775070199	missense variant	-	NC_000014.9:g.95124439A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys379Ter	RCV000528753	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124437del	ClinVar
DICER1	Q9UPY3	p.Leu380Gln	rs1372798580	missense variant	-	NC_000014.9:g.95124433A>T	gnomAD
DICER1	Q9UPY3	p.Glu382Ter	RCV000493341	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.del382del	RCV000493341	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.del382del	RCV000240937	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Ter	RCV000240937	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
DICER1	Q9UPY3	p.Glu382Ter	rs886037667	stop gained	-	NC_000014.9:g.95124428C>A	gnomAD
DICER1	Q9UPY3	p.Glu382Lys	rs886037667	missense variant	-	NC_000014.9:g.95124428C>T	gnomAD
DICER1	Q9UPY3	p.Ile383Met	rs1219577339	missense variant	-	NC_000014.9:g.95124423G>C	gnomAD
DICER1	Q9UPY3	p.Arg385Gly	RCV000567826	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124419G>C	ClinVar
DICER1	Q9UPY3	p.Arg385Gly	rs746886465	missense variant	-	NC_000014.9:g.95124419G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385Cys	rs746886465	missense variant	-	NC_000014.9:g.95124419G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385His	rs1273140956	missense variant	-	NC_000014.9:g.95124418C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg385Ser	rs746886465	missense variant	-	NC_000014.9:g.95124419G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys386Arg	RCV000654459	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124415T>C	ClinVar
DICER1	Q9UPY3	p.Lys386Arg	rs777556655	missense variant	-	NC_000014.9:g.95124415T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys386Arg	RCV000565916	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124415T>C	ClinVar
DICER1	Q9UPY3	p.Lys388Glu	RCV000654450	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124410T>C	ClinVar
DICER1	Q9UPY3	p.Lys388Glu	rs1555374717	missense variant	-	NC_000014.9:g.95124410T>C	-
DICER1	Q9UPY3	p.Tyr390His	RCV000851434	missense variant	-	NC_000014.9:g.95124404A>G	ClinVar
DICER1	Q9UPY3	p.Tyr390His	rs878855241	missense variant	-	NC_000014.9:g.95124404A>G	-
DICER1	Q9UPY3	p.Glu391Asp	rs1269365429	missense variant	-	NC_000014.9:g.95124399C>A	gnomAD
DICER1	Q9UPY3	p.Arg392Ter	RCV000851396	nonsense	-	NC_000014.9:g.95124398G>A	ClinVar
DICER1	Q9UPY3	p.Arg392Gln	rs142635816	missense variant	-	NC_000014.9:g.95124397C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg392Ter	rs1131691211	stop gained	-	NC_000014.9:g.95124398G>A	-
DICER1	Q9UPY3	p.Glu396Gly	RCV000552764	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385T>C	ClinVar
DICER1	Q9UPY3	p.Glu396Ter	RCV000493573	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.del396del	RCV000493573	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Glu396Gly	rs1555374707	missense variant	-	NC_000014.9:g.95124385T>C	-
DICER1	Q9UPY3	p.Glu396Ter	RCV000240876	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.del396del	RCV000240876	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
DICER1	Q9UPY3	p.Ser397Asn	RCV000571846	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124382C>T	ClinVar
DICER1	Q9UPY3	p.Ser397Asn	rs1347290726	missense variant	-	NC_000014.9:g.95124382C>T	gnomAD
DICER1	Q9UPY3	p.Val398Ile	RCV000687412	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124380C>T	ClinVar
DICER1	Q9UPY3	p.Val398Ile	rs1404281132	missense variant	-	NC_000014.9:g.95124380C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu399Ala	RCV000654433	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124376T>G	ClinVar
DICER1	Q9UPY3	p.Glu399Ala	rs1555374703	missense variant	-	NC_000014.9:g.95124376T>G	-
DICER1	Q9UPY3	p.Tyr401Ter	RCV000240914	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124370dup	ClinVar
DICER1	Q9UPY3	p.Tyr401Cys	rs1355146488	missense variant	-	NC_000014.9:g.95124370T>C	gnomAD
DICER1	Q9UPY3	p.Tyr401Ter	rs886037669	stop gained	-	NC_000014.9:g.95124370dup	-
DICER1	Q9UPY3	p.Asn405Ser	rs1024226278	missense variant	-	NC_000014.9:g.95124358T>C	TOPMed
DICER1	Q9UPY3	p.Asn405His	RCV000574527	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124359T>G	ClinVar
DICER1	Q9UPY3	p.Asn405His	RCV000531172	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124359T>G	ClinVar
DICER1	Q9UPY3	p.Asn405His	rs551460901	missense variant	-	NC_000014.9:g.95124359T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn408Asp	rs750625383	missense variant	-	NC_000014.9:g.95124350T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser411Ala	RCV000692244	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124341A>C	ClinVar
DICER1	Q9UPY3	p.Trp412Ter	RCV000523257	frameshift	-	NC_000014.9:g.95124338del	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	RCV000704373	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124335T>G	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	RCV000574576	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124335T>G	ClinVar
DICER1	Q9UPY3	p.Ser413Arg	rs1555374678	missense variant	-	NC_000014.9:g.95124335T>G	-
DICER1	Q9UPY3	p.Asp414Gly	rs1344560237	missense variant	-	NC_000014.9:g.95124331T>C	TOPMed
DICER1	Q9UPY3	p.Glu416Ter	RCV000493435	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124326C>A	ClinVar
DICER1	Q9UPY3	p.Glu416Ter	rs1131691220	stop gained	-	NC_000014.9:g.95124326C>A	-
DICER1	Q9UPY3	p.Asp417Glu	RCV000541482	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124321A>C	ClinVar
DICER1	Q9UPY3	p.Asp417Glu	rs899404083	missense variant	-	NC_000014.9:g.95124321A>C	TOPMed
DICER1	Q9UPY3	p.Asp417Asn	rs150714784	missense variant	-	NC_000014.9:g.95124323C>T	ESP,ExAC
DICER1	Q9UPY3	p.Asp419Gly	RCV000466450	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124316T>C	ClinVar
DICER1	Q9UPY3	p.Asp419Gly	rs1060503623	missense variant	-	NC_000014.9:g.95124316T>C	-
DICER1	Q9UPY3	p.Glu420Lys	RCV000654435	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124314C>T	ClinVar
DICER1	Q9UPY3	p.Glu420Gly	rs1280386879	missense variant	-	NC_000014.9:g.95124313T>C	TOPMed
DICER1	Q9UPY3	p.Glu420Lys	rs1555374663	missense variant	-	NC_000014.9:g.95124314C>T	-
DICER1	Q9UPY3	p.Asp421Gly	rs764367623	missense variant	-	NC_000014.9:g.95124310T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu422Lys	RCV000704087	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124308C>T	ClinVar
DICER1	Q9UPY3	p.Ile424Thr	rs763512012	missense variant	-	NC_000014.9:g.95124301A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu425Lys	rs1435715607	missense variant	-	NC_000014.9:g.95124299C>T	gnomAD
DICER1	Q9UPY3	p.Glu426Lys	rs776158166	missense variant	-	NC_000014.9:g.95124296C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu426Gln	rs776158166	missense variant	-	NC_000014.9:g.95124296C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys429Met	rs1325355975	missense variant	-	NC_000014.9:g.95124286T>A	gnomAD
DICER1	Q9UPY3	p.Pro430Ala	RCV000462069	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124284G>C	ClinVar
DICER1	Q9UPY3	p.Pro430Ala	RCV000574018	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124284G>C	ClinVar
DICER1	Q9UPY3	p.Pro430Ala	rs1060503601	missense variant	-	NC_000014.9:g.95124284G>C	TOPMed
DICER1	Q9UPY3	p.Pro435Ser	rs1222748384	missense variant	-	NC_000014.9:g.95124269G>A	gnomAD
DICER1	Q9UPY3	p.Pro435Leu	VAR_081917	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Ser436Pro	RCV000465655	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124266A>G	ClinVar
DICER1	Q9UPY3	p.Ser436Pro	rs1060503595	missense variant	-	NC_000014.9:g.95124266A>G	-
DICER1	Q9UPY3	p.Ser436Phe	rs1213682122	missense variant	-	NC_000014.9:g.95124265G>A	gnomAD
DICER1	Q9UPY3	p.Thr439Ser	RCV000687785	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124256G>C	ClinVar
DICER1	Q9UPY3	p.Leu442Ter	RCV000493723	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124250dup	ClinVar
DICER1	Q9UPY3	p.Gly444Arg	rs1440194810	missense variant	-	NC_000014.9:g.95124242C>T	gnomAD
DICER1	Q9UPY3	p.Ile446Val	rs1376773899	missense variant	-	NC_000014.9:g.95124236T>C	TOPMed
DICER1	Q9UPY3	p.Val448Met	RCV000654369	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124230C>T	ClinVar
DICER1	Q9UPY3	p.Val448Met	rs1555374618	missense variant	-	NC_000014.9:g.95124230C>T	-
DICER1	Q9UPY3	p.Tyr452Ter	RCV000494670	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124216G>C	ClinVar
DICER1	Q9UPY3	p.Tyr452Ter	rs1131691219	stop gained	-	NC_000014.9:g.95124216G>C	-
DICER1	Q9UPY3	p.Ala454Thr	rs368535616	missense variant	-	NC_000014.9:g.95124212C>T	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Arg459Gly	RCV000689168	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124197T>C	ClinVar
DICER1	Q9UPY3	p.Leu460Phe	RCV000572584	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117751C>G	ClinVar
DICER1	Q9UPY3	p.Leu460Phe	rs1555373260	missense variant	-	NC_000014.9:g.95117751C>G	-
DICER1	Q9UPY3	p.Ile461Leu	RCV000818349	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117750T>A	ClinVar
DICER1	Q9UPY3	p.Ile461Leu	RCV000574882	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117750T>A	ClinVar
DICER1	Q9UPY3	p.Ile461Leu	rs141163928	missense variant	-	NC_000014.9:g.95117750T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile461Val	RCV000331637	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117750T>C	ClinVar
DICER1	Q9UPY3	p.Ile461Val	rs141163928	missense variant	-	NC_000014.9:g.95117750T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys462Arg	RCV000574921	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117746T>C	ClinVar
DICER1	Q9UPY3	p.Lys462Arg	RCV000544563	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117746T>C	ClinVar
DICER1	Q9UPY3	p.Lys462Arg	rs1555373256	missense variant	-	NC_000014.9:g.95117746T>C	-
DICER1	Q9UPY3	p.Ala464Gly	rs761639108	missense variant	-	NC_000014.9:g.95117740G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala464Gly	RCV000797427	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117740G>C	ClinVar
DICER1	Q9UPY3	p.Ala464Gly	RCV000563971	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117740G>C	ClinVar
DICER1	Q9UPY3	p.Gln467Ter	RCV000493643	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117730_95117731del	ClinVar
DICER1	Q9UPY3	p.Asp468Gly	rs536815965	missense variant	-	NC_000014.9:g.95117728T>C	1000Genomes
DICER1	Q9UPY3	p.del470del	RCV000494242	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Ter	RCV000494242	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.del470del	RCV000240880	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Ter	RCV000240880	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
DICER1	Q9UPY3	p.Glu470Asp	RCV000559384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117721C>G	ClinVar
DICER1	Q9UPY3	p.Glu470Ter	rs886037671	stop gained	-	NC_000014.9:g.95117723C>A	-
DICER1	Q9UPY3	p.Glu470Asp	rs774271782	missense variant	-	NC_000014.9:g.95117721C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala472Thr	rs1374595292	missense variant	-	NC_000014.9:g.95117717C>T	gnomAD
DICER1	Q9UPY3	p.Tyr473Ser	RCV000654415	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117713T>G	ClinVar
DICER1	Q9UPY3	p.Tyr473Ter	RCV000543044	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117715del	ClinVar
DICER1	Q9UPY3	p.Tyr473Ser	rs1314692347	missense variant	-	NC_000014.9:g.95117713T>G	gnomAD
DICER1	Q9UPY3	p.Tyr473Cys	rs1314692347	missense variant	-	NC_000014.9:g.95117713T>C	gnomAD
DICER1	Q9UPY3	p.Ile474Val	RCV000470835	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117711T>C	ClinVar
DICER1	Q9UPY3	p.Ile474Met	rs768640312	missense variant	-	NC_000014.9:g.95117709G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile474Val	rs1060503581	missense variant	-	NC_000014.9:g.95117711T>C	-
DICER1	Q9UPY3	p.Ser475Cys	RCV000573989	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117708T>A	ClinVar
DICER1	Q9UPY3	p.Ser475Cys	RCV000472646	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117708T>A	ClinVar
DICER1	Q9UPY3	p.Ser475Cys	rs1060503594	missense variant	-	NC_000014.9:g.95117708T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn477Ser	RCV000475639	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117701T>C	ClinVar
DICER1	Q9UPY3	p.Asn477Ser	RCV000564585	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117701T>C	ClinVar
DICER1	Q9UPY3	p.Asn477Ser	rs1060503630	missense variant	-	NC_000014.9:g.95117701T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile479Val	rs1293949005	missense variant	-	NC_000014.9:g.95117696T>C	TOPMed
DICER1	Q9UPY3	p.Gly481Val	rs1307281391	missense variant	-	NC_000014.9:g.95117689C>A	TOPMed
DICER1	Q9UPY3	p.His482Arg	RCV000654452	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117686T>C	ClinVar
DICER1	Q9UPY3	p.His482Arg	rs749240414	missense variant	-	NC_000014.9:g.95117686T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly485Arg	RCV000556393	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117678C>T	ClinVar
DICER1	Q9UPY3	p.Gly485Arg	rs762155753	missense variant	-	NC_000014.9:g.95117678C>T	gnomAD
DICER1	Q9UPY3	p.Asn487Tyr	RCV000476049	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117672T>A	ClinVar
DICER1	Q9UPY3	p.Asn487Tyr	rs1060503590	missense variant	-	NC_000014.9:g.95117672T>A	-
DICER1	Q9UPY3	p.Gln488Ter	RCV000493763	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117669dup	ClinVar
DICER1	Q9UPY3	p.Gln488His	rs770934736	missense variant	-	NC_000014.9:g.95117667C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro489Leu	RCV000472468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117665G>A	ClinVar
DICER1	Q9UPY3	p.Pro489Leu	rs200866760	missense variant	-	NC_000014.9:g.95117665G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490His	RCV000534895	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117662C>T	ClinVar
DICER1	Q9UPY3	p.Arg490Cys	rs777894117	missense variant	-	NC_000014.9:g.95117663G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Cys	RCV000570166	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117663G>A	ClinVar
DICER1	Q9UPY3	p.Arg490Ser	RCV000472281	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>T	ClinVar
DICER1	Q9UPY3	p.Arg490Ser	rs777894117	missense variant	-	NC_000014.9:g.95117663G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490His	rs1006363970	missense variant	-	NC_000014.9:g.95117662C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Leu	rs1006363970	missense variant	-	NC_000014.9:g.95117662C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg490Cys	RCV000227215	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>A	ClinVar
DICER1	Q9UPY3	p.Lys492Arg	RCV000654469	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117656T>C	ClinVar
DICER1	Q9UPY3	p.Lys492Arg	rs758829946	missense variant	-	NC_000014.9:g.95117656T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln493Glu	rs1184987398	missense variant	-	NC_000014.9:g.95117654G>C	TOPMed
DICER1	Q9UPY3	p.Met494Thr	RCV000549790	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117650A>G	ClinVar
DICER1	Q9UPY3	p.Met494Ile	RCV000572347	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117649C>T	ClinVar
DICER1	Q9UPY3	p.Met494Val	RCV000231243	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117651T>C	ClinVar
DICER1	Q9UPY3	p.Met494Ile	RCV000803105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117649C>T	ClinVar
DICER1	Q9UPY3	p.Met494Val	rs878855243	missense variant	-	NC_000014.9:g.95117651T>C	-
DICER1	Q9UPY3	p.Met494Ile	rs1224788557	missense variant	-	NC_000014.9:g.95117649C>T	gnomAD
DICER1	Q9UPY3	p.Met494Thr	rs1269571329	missense variant	-	NC_000014.9:g.95117650A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala496Thr	rs779431881	missense variant	-	NC_000014.9:g.95117645C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg499Gly	rs1205403584	missense variant	-	NC_000014.9:g.95117636T>C	gnomAD
DICER1	Q9UPY3	p.Lys500Ter	RCV000211121	nonsense	Pineoblastoma	NC_000014.9:g.95117633T>A	ClinVar
DICER1	Q9UPY3	p.Lys500Ter	rs875989782	stop gained	-	NC_000014.9:g.95117633T>A	-
DICER1	Q9UPY3	p.Glu503Gln	RCV000654409	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>G	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	RCV000240918	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Gln	rs137852977	missense variant	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95117624C>G	-
DICER1	Q9UPY3	p.Glu503Ter	RCV000493893	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	RCV000004726	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117624C>A	ClinVar
DICER1	Q9UPY3	p.Glu503Ter	rs137852977	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95117624C>A	-
DICER1	Q9UPY3	p.Val504Ile	rs748384175	missense variant	-	NC_000014.9:g.95116695C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg509Ter	RCV000851442	nonsense	-	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	RCV000240959	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	RCV000494034	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116680G>A	ClinVar
DICER1	Q9UPY3	p.Arg509Ter	rs886037672	stop gained	-	NC_000014.9:g.95116680G>A	-
DICER1	Q9UPY3	p.Glu512Gly	RCV000540230	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116670T>C	ClinVar
DICER1	Q9UPY3	p.Glu512Asp	rs1375042165	missense variant	-	NC_000014.9:g.95116669C>G	gnomAD
DICER1	Q9UPY3	p.Glu512Gly	rs1555372903	missense variant	-	NC_000014.9:g.95116670T>C	-
DICER1	Q9UPY3	p.Asn514Ser	rs750188806	missense variant	-	NC_000014.9:g.95116664T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala518Gly	RCV000696372	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116652G>C	ClinVar
DICER1	Q9UPY3	p.Thr519Ala	RCV000695734	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116650T>C	ClinVar
DICER1	Q9UPY3	p.Ile521Val	rs966168689	missense variant	-	NC_000014.9:g.95116644T>C	TOPMed
DICER1	Q9UPY3	p.Val522Ala	rs1178338521	missense variant	-	NC_000014.9:g.95116640A>G	gnomAD
DICER1	Q9UPY3	p.Val526Ile	RCV000470173	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116629C>T	ClinVar
DICER1	Q9UPY3	p.Val526Ile	rs1060503660	missense variant	-	NC_000014.9:g.95116629C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	RCV000232020	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116622A>G	ClinVar
DICER1	Q9UPY3	p.Ile528Val	rs755649018	missense variant	-	NC_000014.9:g.95116623T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	rs143099538	missense variant	-	NC_000014.9:g.95116622A>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile528Thr	RCV000575192	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116622A>G	ClinVar
DICER1	Q9UPY3	p.Ile528Leu	rs755649018	missense variant	-	NC_000014.9:g.95116623T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys530Arg	RCV000706694	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116616T>C	ClinVar
DICER1	Q9UPY3	p.Arg536Cys	RCV000573426	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116599G>A	ClinVar
DICER1	Q9UPY3	p.Arg536Cys	rs1007754435	missense variant	-	NC_000014.9:g.95116599G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu542Gly	rs761391603	missense variant	-	NC_000014.9:g.95116580T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu542Gly	RCV000570700	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116580T>C	ClinVar
DICER1	Q9UPY3	p.Glu542Gly	RCV000550573	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116580T>C	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000851443	nonsense	-	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000004729	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Gln	RCV000528971	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116574C>T	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	RCV000240896	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116575G>A	ClinVar
DICER1	Q9UPY3	p.Arg544Ter	rs137852979	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95116575G>A	-
DICER1	Q9UPY3	p.Arg544Gln	rs143533680	missense variant	-	NC_000014.9:g.95116574C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser545Phe	rs1344891057	missense variant	-	NC_000014.9:g.95116571G>A	gnomAD
DICER1	Q9UPY3	p.Gln548Leu	rs1261880466	missense variant	-	NC_000014.9:g.95116562T>A	gnomAD
DICER1	Q9UPY3	p.del551del	RCV000240932	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
DICER1	Q9UPY3	p.Gly551Ter	RCV000240932	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
DICER1	Q9UPY3	p.Gly551Ter	rs886037673	stop gained	-	NC_000014.9:g.95116554C>A	-
DICER1	Q9UPY3	p.Arg554Gly	rs148532788	missense variant	-	NC_000014.9:g.95116545T>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala555Val	RCV000697921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116541G>A	ClinVar
DICER1	Q9UPY3	p.Ile557Val	rs139198222	missense variant	-	NC_000014.9:g.95116536T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile561Val	RCV000233675	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116524T>C	ClinVar
DICER1	Q9UPY3	p.Ile561Thr	RCV000553612	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116523A>G	ClinVar
DICER1	Q9UPY3	p.Ile561Thr	rs1383145692	missense variant	-	NC_000014.9:g.95116523A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile561Val	rs147493562	missense variant	-	NC_000014.9:g.95116524T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.del562del	RCV000240961	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
DICER1	Q9UPY3	p.Met562Ter	RCV000240961	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
DICER1	Q9UPY3	p.Ala564Val	RCV000571889	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116514G>A	ClinVar
DICER1	Q9UPY3	p.Ala564Val	RCV000456479	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>A	ClinVar
DICER1	Q9UPY3	p.Ala564Gly	RCV000654417	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>C	ClinVar
DICER1	Q9UPY3	p.Ala564Val	rs201298288	missense variant	-	NC_000014.9:g.95116514G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala564Gly	rs201298288	missense variant	-	NC_000014.9:g.95116514G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala564Thr	rs773357230	missense variant	-	NC_000014.9:g.95116515C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp565Ter	RCV000542373	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116511del	ClinVar
DICER1	Q9UPY3	p.Asp565Val	rs1342138544	missense variant	-	NC_000014.9:g.95116511T>A	TOPMed
DICER1	Q9UPY3	p.del566del	RCV000240898	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
DICER1	Q9UPY3	p.Thr566Ter	RCV000240898	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
DICER1	Q9UPY3	p.Asp567Glu	rs1229773803	missense variant	-	NC_000014.9:g.95116504G>C	TOPMed
DICER1	Q9UPY3	p.Lys568Arg	RCV000705667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116502T>C	ClinVar
DICER1	Q9UPY3	p.Ile569Ter	RCV000459141	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499_95116503del	ClinVar
DICER1	Q9UPY3	p.Ile569Thr	RCV000654465	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499A>G	ClinVar
DICER1	Q9UPY3	p.Ile569Met	RCV000460011	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116498T>C	ClinVar
DICER1	Q9UPY3	p.Ile569Met	rs774765473	missense variant	-	NC_000014.9:g.95116498T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile569Thr	rs1555372847	missense variant	-	NC_000014.9:g.95116499A>G	-
DICER1	Q9UPY3	p.Phe572Ter	RCV000240934	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
DICER1	Q9UPY3	p.del572del	RCV000240934	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
DICER1	Q9UPY3	p.Asp575Glu	RCV000465908	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116480G>T	ClinVar
DICER1	Q9UPY3	p.Asp575Glu	rs1060503652	missense variant	-	NC_000014.9:g.95116480G>T	-
DICER1	Q9UPY3	p.Leu576Phe	rs1310449725	missense variant	-	NC_000014.9:g.95116479G>A	TOPMed
DICER1	Q9UPY3	p.Thr578Ter	RCV000561602	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116480del	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	RCV000564125	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116472G>C	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	RCV000459495	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116472G>C	ClinVar
DICER1	Q9UPY3	p.Thr578Ter	RCV000493051	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116476dup	ClinVar
DICER1	Q9UPY3	p.Thr578Ser	rs1060503586	missense variant	-	NC_000014.9:g.95116472G>C	TOPMed
DICER1	Q9UPY3	p.Tyr579Cys	RCV000530577	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116469T>C	ClinVar
DICER1	Q9UPY3	p.Tyr579Cys	rs769034924	missense variant	-	NC_000014.9:g.95116469T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys580Glu	RCV000654390	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116467T>C	ClinVar
DICER1	Q9UPY3	p.Lys580Glu	rs1555372824	missense variant	-	NC_000014.9:g.95116467T>C	-
DICER1	Q9UPY3	p.Ala581Gly	RCV000545455	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116463G>C	ClinVar
DICER1	Q9UPY3	p.Ala581Gly	rs1555372822	missense variant	-	NC_000014.9:g.95116463G>C	-
DICER1	Q9UPY3	p.Ile582Thr	RCV000240873	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116460A>G	ClinVar
DICER1	Q9UPY3	p.Ile582Thr	rs749686370	missense variant	-	NC_000014.9:g.95116460A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu583Ter	RCV000464540	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116458del	ClinVar
DICER1	Q9UPY3	p.Glu583Ter	RCV000493199	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116454_95116458del	ClinVar
DICER1	Q9UPY3	p.Ile585Val	rs1159702656	missense variant	-	NC_000014.9:g.95115821T>C	TOPMed
DICER1	Q9UPY3	p.Asn588Lys	RCV000543973	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115810G>T	ClinVar
DICER1	Q9UPY3	p.Asn588Lys	rs1555372652	missense variant	-	NC_000014.9:g.95115810G>T	-
DICER1	Q9UPY3	p.Asn588Thr	rs1251715969	missense variant	-	NC_000014.9:g.95115811T>G	gnomAD
DICER1	Q9UPY3	p.Lys589Ter	RCV000466596	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115807del	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	RCV000575465	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115805C>A	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	RCV000691080	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115805C>A	ClinVar
DICER1	Q9UPY3	p.Cys590Phe	rs1555372646	missense variant	-	NC_000014.9:g.95115805C>A	-
DICER1	Q9UPY3	p.Ser591Phe	RCV000558799	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115802G>A	ClinVar
DICER1	Q9UPY3	p.Ser591Ala	rs1406205603	missense variant	-	NC_000014.9:g.95115803A>C	TOPMed
DICER1	Q9UPY3	p.Ser591Phe	rs1555372631	missense variant	-	NC_000014.9:g.95115802G>A	-
DICER1	Q9UPY3	p.Lys592Gln	rs757920193	missense variant	-	NC_000014.9:g.95115800T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser593Leu	rs752424727	missense variant	-	NC_000014.9:g.95115796G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp595Gly	RCV000470722	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115790T>C	ClinVar
DICER1	Q9UPY3	p.Asp595Gly	rs1060503611	missense variant	-	NC_000014.9:g.95115790T>C	gnomAD
DICER1	Q9UPY3	p.Thr596Ter	RCV000240926	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.del596del	RCV000494138	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.Thr596Ter	RCV000494138	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.del596del	RCV000240926	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
DICER1	Q9UPY3	p.Thr596Asn	RCV000573803	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787G>T	ClinVar
DICER1	Q9UPY3	p.Thr596Asn	RCV000226251	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787G>T	ClinVar
DICER1	Q9UPY3	p.Thr596Ile	rs754852266	missense variant	-	NC_000014.9:g.95115787G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr596Asn	rs754852266	missense variant	-	NC_000014.9:g.95115787G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly597Ser	RCV000654411	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115785C>T	ClinVar
DICER1	Q9UPY3	p.Gly597Ser	rs1277436466	missense variant	-	NC_000014.9:g.95115785C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu598Lys	rs753796042	missense variant	-	NC_000014.9:g.95115782C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr599Ala	RCV000654372	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115779T>C	ClinVar
DICER1	Q9UPY3	p.Thr599Ala	rs766492523	missense variant	-	NC_000014.9:g.95115779T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile601Val	RCV000704838	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115773T>C	ClinVar
DICER1	Q9UPY3	p.Ile601Thr	rs760966585	missense variant	-	NC_000014.9:g.95115772A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile601Val	rs564224919	missense variant	-	NC_000014.9:g.95115773T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile601Thr	RCV000654420	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115772A>G	ClinVar
DICER1	Q9UPY3	p.Pro603Thr	RCV000474757	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115767G>T	ClinVar
DICER1	Q9UPY3	p.Pro603Thr	rs1060503614	missense variant	-	NC_000014.9:g.95115767G>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val604Ile	rs960381662	missense variant	-	NC_000014.9:g.95115764C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met605Thr	RCV000654422	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115760A>G	ClinVar
DICER1	Q9UPY3	p.Met605Val	RCV000569184	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115761T>C	ClinVar
DICER1	Q9UPY3	p.Met605Thr	rs1249693564	missense variant	-	NC_000014.9:g.95115760A>G	TOPMed
DICER1	Q9UPY3	p.Met605Val	rs759958601	missense variant	-	NC_000014.9:g.95115761T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp606Gly	rs545651708	missense variant	-	NC_000014.9:g.95115757T>C	1000Genomes
DICER1	Q9UPY3	p.Asp608Gly	RCV000548401	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>C	ClinVar
DICER1	Q9UPY3	p.Asp608Gly	rs1270338113	missense variant	-	NC_000014.9:g.95115751T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp608Val	RCV000698469	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>A	ClinVar
DICER1	Q9UPY3	p.Asp609Tyr	RCV000231934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115749C>A	ClinVar
DICER1	Q9UPY3	p.Asp609Tyr	rs114947750	missense variant	-	NC_000014.9:g.95115749C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val610Ter	RCV000240861	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.del610del	RCV000240861	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Leu	RCV000536557	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>G	ClinVar
DICER1	Q9UPY3	p.Val610Ile	RCV000654396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>T	ClinVar
DICER1	Q9UPY3	p.del610del	RCV000493528	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Ter	RCV000493528	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
DICER1	Q9UPY3	p.Val610Leu	rs1336108562	missense variant	-	NC_000014.9:g.95115746C>G	gnomAD
DICER1	Q9UPY3	p.Val610Ile	rs1336108562	missense variant	-	NC_000014.9:g.95115746C>T	gnomAD
DICER1	Q9UPY3	p.Pro613Ser	RCV000456159	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115737G>A	ClinVar
DICER1	Q9UPY3	p.Pro613Ser	rs201553563	missense variant	-	NC_000014.9:g.95115737G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr614Ter	RCV000493225	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115735del	ClinVar
DICER1	Q9UPY3	p.Val615Met	rs1315795741	missense variant	-	NC_000014.9:g.95115731C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Val615Leu	rs1315795741	missense variant	-	NC_000014.9:g.95115731C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu616Trp	rs771634025	missense variant	-	NC_000014.9:g.95115727A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro618Arg	RCV000654442	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115721G>C	ClinVar
DICER1	Q9UPY3	p.Pro618Arg	rs1555372566	missense variant	-	NC_000014.9:g.95115721G>C	-
DICER1	Q9UPY3	p.Asp619Gly	rs1426451842	missense variant	-	NC_000014.9:g.95115718T>C	TOPMed
DICER1	Q9UPY3	p.Gly621Ala	rs1369399401	missense variant	-	NC_000014.9:g.95115712C>G	TOPMed
DICER1	Q9UPY3	p.Gly621Asp	RCV000703553	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115712C>T	ClinVar
DICER1	Q9UPY3	p.Gly622Ser	RCV000654431	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115710C>T	ClinVar
DICER1	Q9UPY3	p.Gly622Ser	rs1555372556	missense variant	-	NC_000014.9:g.95115710C>T	-
DICER1	Q9UPY3	p.Pro623Ser	RCV000539624	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115707G>A	ClinVar
DICER1	Q9UPY3	p.Pro623Ser	rs778668024	missense variant	-	NC_000014.9:g.95115707G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg624Ter	RCV000493744	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Ter	RCV000851400	nonsense	-	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Ter	RCV000240902	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115704G>A	ClinVar
DICER1	Q9UPY3	p.Arg624Gly	rs754818927	missense variant	-	NC_000014.9:g.95115704G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg624Gln	rs753746305	missense variant	-	NC_000014.9:g.95115703C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg624Ter	rs754818927	stop gained	-	NC_000014.9:g.95115704G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr626Lys	RCV000554505	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115697G>T	ClinVar
DICER1	Q9UPY3	p.Thr626Lys	rs375579739	missense variant	-	NC_000014.9:g.95115697G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.del627del	RCV000240940	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Ter	RCV000240940	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Val	rs1312425649	missense variant	-	NC_000014.9:g.95115695T>C	TOPMed
DICER1	Q9UPY3	p.Ile627Ter	RCV000494355	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.del627del	RCV000494355	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Ile627Ter	RCV000482671	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.del627del	RCV000482671	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	RCV000569558	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115691T>C	ClinVar
DICER1	Q9UPY3	p.Asn628Thr	RCV000761009	missense variant	Diffuse astrocytoma	NC_000014.9:g.95115691T>G	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	RCV000458073	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115691T>C	ClinVar
DICER1	Q9UPY3	p.Asn628Ser	rs756051157	missense variant	-	NC_000014.9:g.95115691T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr629Met	RCV000528058	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115688G>A	ClinVar
DICER1	Q9UPY3	p.Thr629Met	RCV000565943	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115688G>A	ClinVar
DICER1	Q9UPY3	p.Thr629Ala	rs1177614630	missense variant	-	NC_000014.9:g.95115689T>C	gnomAD
DICER1	Q9UPY3	p.Thr629Met	rs750410087	missense variant	-	NC_000014.9:g.95115688G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Val	RCV000229468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115683T>C	ClinVar
DICER1	Q9UPY3	p.Ile631Val	rs878855245	missense variant	-	NC_000014.9:g.95115683T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Phe	rs878855245	missense variant	-	NC_000014.9:g.95115683T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile631Leu	rs878855245	missense variant	-	NC_000014.9:g.95115683T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.His633Leu	rs763129150	missense variant	-	NC_000014.9:g.95115676T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile634Val	rs752853448	missense variant	-	NC_000014.9:g.95115674T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn635Ser	RCV000654414	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115670T>C	ClinVar
DICER1	Q9UPY3	p.Asn635Ser	RCV000575691	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115670T>C	ClinVar
DICER1	Q9UPY3	p.Asn635Ser	rs765551529	missense variant	-	NC_000014.9:g.95115670T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr637Ter	rs886037682	stop gained	-	NC_000014.9:g.95113222dup	-
DICER1	Q9UPY3	p.Tyr637Ter	RCV000240903	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113222dup	ClinVar
DICER1	Q9UPY3	p.Arg640Gly	RCV000654375	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113214T>C	ClinVar
DICER1	Q9UPY3	p.Arg640Gly	rs1555372107	missense variant	-	NC_000014.9:g.95113214T>C	-
DICER1	Q9UPY3	p.Pro642Thr	rs1235554768	missense variant	-	NC_000014.9:g.95113208G>T	gnomAD
DICER1	Q9UPY3	p.Pro645Leu	rs781253567	missense variant	-	NC_000014.9:g.95113198G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro645Leu	RCV000463332	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113198G>A	ClinVar
DICER1	Q9UPY3	p.Thr647Asn	rs1238144220	missense variant	-	NC_000014.9:g.95113192G>T	gnomAD
DICER1	Q9UPY3	p.Leu649Arg	rs752761725	missense variant	-	NC_000014.9:g.95113186A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro651Ala	rs1315942457	missense variant	-	NC_000014.9:g.95113181G>C	gnomAD
DICER1	Q9UPY3	p.Pro651Ser	rs1315942457	missense variant	-	NC_000014.9:g.95113181G>A	gnomAD
DICER1	Q9UPY3	p.Lys652Thr	RCV000546568	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113177T>G	ClinVar
DICER1	Q9UPY3	p.Lys652Thr	rs755150419	missense variant	-	NC_000014.9:g.95113177T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys652Ile	rs755150419	missense variant	-	NC_000014.9:g.95113177T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys652Gln	rs1339343858	missense variant	-	NC_000014.9:g.95113178T>G	TOPMed
DICER1	Q9UPY3	p.Cys653Phe	rs1022513649	missense variant	-	NC_000014.9:g.95113174C>A	TOPMed
DICER1	Q9UPY3	p.Arg654Gly	RCV000552179	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113172T>C	ClinVar
DICER1	Q9UPY3	p.Arg654Gly	rs1555372083	missense variant	-	NC_000014.9:g.95113172T>C	-
DICER1	Q9UPY3	p.Arg656Ter	RCV000494166	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Gln	RCV000532187	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113165C>T	ClinVar
DICER1	Q9UPY3	p.Arg656Ter	RCV000240942	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Arg656Gly	rs754081635	missense variant	-	NC_000014.9:g.95113166G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg656Gln	rs766707302	missense variant	-	NC_000014.9:g.95113165C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg656Ter	rs754081635	stop gained	-	NC_000014.9:g.95113166G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg656Ter	RCV000851447	nonsense	-	NC_000014.9:g.95113166G>A	ClinVar
DICER1	Q9UPY3	p.Pro659Ser	rs1347537043	missense variant	-	NC_000014.9:g.95113157G>A	gnomAD
DICER1	Q9UPY3	p.Pro659Ser	RCV000566256	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113157G>A	ClinVar
DICER1	Q9UPY3	p.Asp660Gly	RCV000654451	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113153T>C	ClinVar
DICER1	Q9UPY3	p.Asp660His	rs773588526	missense variant	-	NC_000014.9:g.95113154C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp660Gly	RCV000573224	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113153T>C	ClinVar
DICER1	Q9UPY3	p.Asp660Gly	rs151272381	missense variant	-	NC_000014.9:g.95113153T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp660Asn	rs773588526	missense variant	-	NC_000014.9:g.95113154C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr662Ala	rs1163780413	missense variant	-	NC_000014.9:g.95113148T>C	gnomAD
DICER1	Q9UPY3	p.Tyr664Cys	RCV000654426	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113141T>C	ClinVar
DICER1	Q9UPY3	p.Tyr664Cys	rs1555372066	missense variant	-	NC_000014.9:g.95113141T>C	-
DICER1	Q9UPY3	p.Tyr668Asp	RCV000546133	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113130A>C	ClinVar
DICER1	Q9UPY3	p.Tyr668Asp	rs1555372059	missense variant	-	NC_000014.9:g.95113130A>C	-
DICER1	Q9UPY3	p.Ile671Val	RCV000459832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113121T>C	ClinVar
DICER1	Q9UPY3	p.Ile671Val	rs768315203	missense variant	-	NC_000014.9:g.95113121T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile671Val	RCV000565131	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113121T>C	ClinVar
DICER1	Q9UPY3	p.Asn672Lys	rs748905178	missense variant	-	NC_000014.9:g.95113116G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro674Arg	rs775336086	missense variant	-	NC_000014.9:g.95113111G>C	ExAC
DICER1	Q9UPY3	p.Leu675Val	RCV000697938	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113109G>C	ClinVar
DICER1	Q9UPY3	p.Leu675Val	rs1201056619	missense variant	-	NC_000014.9:g.95113109G>C	TOPMed
DICER1	Q9UPY3	p.Arg676Ter	RCV000494079	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	RCV000226155	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Pro	RCV000560799	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113105C>G	ClinVar
DICER1	Q9UPY3	p.Arg676Pro	RCV000562090	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113105C>G	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	RCV000851448	nonsense	-	NC_000014.9:g.95113106G>A	ClinVar
DICER1	Q9UPY3	p.Arg676Ter	rs878855246	stop gained	-	NC_000014.9:g.95113106G>A	-
DICER1	Q9UPY3	p.Arg676Pro	rs892971080	missense variant	-	NC_000014.9:g.95113105C>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg676Gln	rs892971080	missense variant	-	NC_000014.9:g.95113105C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala677Thr	RCV000654364	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113103C>T	ClinVar
DICER1	Q9UPY3	p.Ala677Thr	rs1555372041	missense variant	-	NC_000014.9:g.95113103C>T	-
DICER1	Q9UPY3	p.Ser678Ala	RCV000460461	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113100A>C	ClinVar
DICER1	Q9UPY3	p.Ser678Phe	RCV000230060	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113099G>A	ClinVar
DICER1	Q9UPY3	p.Ser678Ala	rs377269341	missense variant	-	NC_000014.9:g.95113100A>C	ESP
DICER1	Q9UPY3	p.Ser678Phe	rs544623004	missense variant	-	NC_000014.9:g.95113099G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser678Phe	RCV000573377	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113099G>A	ClinVar
DICER1	Q9UPY3	p.Ile679Val	rs1224940599	missense variant	-	NC_000014.9:g.95113097T>C	gnomAD
DICER1	Q9UPY3	p.Val680Ile	RCV000571758	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113094C>T	ClinVar
DICER1	Q9UPY3	p.Val680Ile	RCV000476569	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113094C>T	ClinVar
DICER1	Q9UPY3	p.Val680Ile	rs201883449	missense variant	-	NC_000014.9:g.95113094C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro682Gln	RCV000654376	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112243G>T	ClinVar
DICER1	Q9UPY3	p.Pro682Gln	rs752621393	missense variant	-	NC_000014.9:g.95112243G>T	-
DICER1	Q9UPY3	p.Pro683Arg	RCV000549330	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112240G>C	ClinVar
DICER1	Q9UPY3	p.Pro683Arg	rs373914672	missense variant	-	NC_000014.9:g.95112240G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Thr	RCV000567909	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112237A>G	ClinVar
DICER1	Q9UPY3	p.Met684Thr	rs1319798252	missense variant	-	NC_000014.9:g.95112237A>G	gnomAD
DICER1	Q9UPY3	p.Met684Val	rs142300389	missense variant	-	NC_000014.9:g.95112238T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met684Leu	rs142300389	missense variant	-	NC_000014.9:g.95112238T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser685Cys	rs1003714112	missense variant	-	NC_000014.9:g.95112235T>A	TOPMed
DICER1	Q9UPY3	p.Cys686Tyr	rs769510378	missense variant	-	NC_000014.9:g.95112231C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg688Ter	RCV000493794	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Ter	RCV000240958	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	RCV000467565	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112225C>T	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	RCV000567747	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112225C>T	ClinVar
DICER1	Q9UPY3	p.Arg688Gln	rs542398644	missense variant	-	NC_000014.9:g.95112225C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg688Ter	rs886037684	stop gained	-	NC_000014.9:g.95112226G>A	gnomAD
DICER1	Q9UPY3	p.Arg688Leu	rs542398644	missense variant	-	NC_000014.9:g.95112225C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg688Ter	RCV000384144	nonsense	-	NC_000014.9:g.95112226G>A	ClinVar
DICER1	Q9UPY3	p.Glu691Gln	rs1158581801	missense variant	-	NC_000014.9:g.95112217C>G	gnomAD
DICER1	Q9UPY3	p.Arg692Lys	RCV000685928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112213C>T	ClinVar
DICER1	Q9UPY3	p.Arg692Lys	RCV000567897	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112213C>T	ClinVar
DICER1	Q9UPY3	p.Arg692Lys	rs1555371838	missense variant	-	NC_000014.9:g.95112213C>T	-
DICER1	Q9UPY3	p.Val694Ile	rs770652592	missense variant	-	NC_000014.9:g.95112208C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile697Met	rs746941761	missense variant	-	NC_000014.9:g.95112197A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys699Gly	rs1168346305	missense variant	-	NC_000014.9:g.95112193A>C	gnomAD
DICER1	Q9UPY3	p.Glu700Gly	RCV000526994	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112189T>C	ClinVar
DICER1	Q9UPY3	p.Glu700Gly	rs376691754	missense variant	-	NC_000014.9:g.95112189T>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Leu702Val	rs1555371818	missense variant	-	NC_000014.9:g.95112184G>C	-
DICER1	Q9UPY3	p.Leu702Val	RCV000537187	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112184G>C	ClinVar
DICER1	Q9UPY3	p.Lys704Arg	RCV000692763	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112177T>C	ClinVar
DICER1	Q9UPY3	p.Lys704Arg	rs749428279	missense variant	-	NC_000014.9:g.95112177T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys704Arg	RCV000575302	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112177T>C	ClinVar
DICER1	Q9UPY3	p.Ile705Val	rs752868874	missense variant	-	NC_000014.9:g.95112175T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu707Lys	RCV000792504	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111454C>T	ClinVar
DICER1	Q9UPY3	p.Glu707Lys	RCV000562699	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111454C>T	ClinVar
DICER1	Q9UPY3	p.Glu707Lys	rs1555371642	missense variant	-	NC_000014.9:g.95111454C>T	-
DICER1	Q9UPY3	p.Pro714Thr	rs911090648	missense variant	-	NC_000014.9:g.95111433G>T	TOPMed
DICER1	Q9UPY3	p.Val715Phe	rs1254898247	missense variant	-	NC_000014.9:g.95111430C>A	gnomAD
DICER1	Q9UPY3	p.Glu718Asp	RCV000570251	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111419C>G	ClinVar
DICER1	Q9UPY3	p.Glu718Asp	RCV000540972	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111419C>G	ClinVar
DICER1	Q9UPY3	p.Glu718Asp	rs1555371628	missense variant	-	NC_000014.9:g.95111419C>G	-
DICER1	Q9UPY3	p.Thr719Ter	RCV000493808	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111415_95111416del	ClinVar
DICER1	Q9UPY3	p.Thr719Ser	rs1342513692	missense variant	-	NC_000014.9:g.95111417G>C	gnomAD
DICER1	Q9UPY3	p.Thr719Ter	RCV000240883	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111415_95111416del	ClinVar
DICER1	Q9UPY3	p.Asp727Gly	rs997546722	missense variant	-	NC_000014.9:g.95111393T>C	-
DICER1	Q9UPY3	p.Leu728Phe	rs1376232943	missense variant	-	NC_000014.9:g.95111389C>G	TOPMed
DICER1	Q9UPY3	p.His729Arg	rs748084431	missense variant	-	NC_000014.9:g.95111387T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.His729Arg	RCV000468577	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111387T>C	ClinVar
DICER1	Q9UPY3	p.Asp730PheAlaTer	RCV000494351	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111386_95111392dup	ClinVar
DICER1	Q9UPY3	p.Asp730Gly	rs780069801	missense variant	-	NC_000014.9:g.95111384T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu731Lys	RCV000460175	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111382C>T	ClinVar
DICER1	Q9UPY3	p.Glu732Gly	RCV000654457	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111378T>C	ClinVar
DICER1	Q9UPY3	p.Glu732Gly	rs1555371605	missense variant	-	NC_000014.9:g.95111378T>C	-
DICER1	Q9UPY3	p.Thr734Ser	RCV000467449	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111372G>C	ClinVar
DICER1	Q9UPY3	p.Thr734Ter	RCV000555693	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111374_95111375CT[3]	ClinVar
DICER1	Q9UPY3	p.Thr734Ser	rs781312991	missense variant	-	NC_000014.9:g.95111372G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser735Gly	rs1039684913	missense variant	-	NC_000014.9:g.95111370T>C	-
DICER1	Q9UPY3	p.Pro737Ala	rs778284198	missense variant	-	NC_000014.9:g.95111364G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro737Ser	rs778284198	missense variant	-	NC_000014.9:g.95111364G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr743Met	rs758932000	missense variant	-	NC_000014.9:g.95111345G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr743Met	RCV000471984	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111345G>A	ClinVar
DICER1	Q9UPY3	p.Arg745Ter	RCV000459736	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111340G>A	ClinVar
DICER1	Q9UPY3	p.Arg745Ter	rs1060503584	stop gained	-	NC_000014.9:g.95111340G>A	-
DICER1	Q9UPY3	p.Arg746Gly	rs886037686	missense variant	-	NC_000014.9:g.95111337T>C	-
DICER1	Q9UPY3	p.Arg746Gly	RCV000240921	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111337T>C	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000240962	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000240899	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330insTAGT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	RCV000494492	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
DICER1	Q9UPY3	p.Cys748Ter	rs886037687	stop gained	-	NC_000014.9:g.95111329_95111330delinsTT	-
DICER1	Q9UPY3	p.Cys748TerLeuUnk	rs886037688	stop gained	-	NC_000014.9:g.95111329_95111330insTAGT	-
DICER1	Q9UPY3	p.Tyr749Ter	RCV000240935	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	RCV000493504	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	RCV000480985	nonsense	-	NC_000014.9:g.95111326G>T	ClinVar
DICER1	Q9UPY3	p.Tyr749Phe	RCV000556009	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111327T>A	ClinVar
DICER1	Q9UPY3	p.Tyr749Ter	rs886037689	stop gained	-	NC_000014.9:g.95111326G>T	-
DICER1	Q9UPY3	p.Tyr749Phe	rs1309961626	missense variant	-	NC_000014.9:g.95111327T>A	TOPMed
DICER1	Q9UPY3	p.Pro750Ter	RCV000541292	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326_95111329dup	ClinVar
DICER1	Q9UPY3	p.Pro750Arg	RCV000226942	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111324G>C	ClinVar
DICER1	Q9UPY3	p.Pro750Arg	rs878855249	missense variant	-	NC_000014.9:g.95111324G>C	-
DICER1	Q9UPY3	p.Glu755Lys	RCV000561928	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108497C>T	ClinVar
DICER1	Q9UPY3	p.Glu755Lys	rs1555370957	missense variant	-	NC_000014.9:g.95108497C>T	-
DICER1	Q9UPY3	p.Leu757Val	RCV000654402	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108491A>C	ClinVar
DICER1	Q9UPY3	p.Leu757Val	rs1555370956	missense variant	-	NC_000014.9:g.95108491A>C	-
DICER1	Q9UPY3	p.Asp759Val	rs1288856698	missense variant	-	NC_000014.9:g.95108484T>A	TOPMed
DICER1	Q9UPY3	p.Ser760Asn	RCV000471625	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108481C>T	ClinVar
DICER1	Q9UPY3	p.Ser760Arg	rs761639070	missense variant	-	NC_000014.9:g.95108482T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser760Asn	rs1060503621	missense variant	-	NC_000014.9:g.95108481C>T	-
DICER1	Q9UPY3	p.Arg763Thr	rs774344152	missense variant	-	NC_000014.9:g.95108472C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg763Thr	RCV000544525	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108472C>G	ClinVar
DICER1	Q9UPY3	p.Gln766Arg	rs940468676	missense variant	-	NC_000014.9:g.95108463T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro767Ser	rs1283309784	missense variant	-	NC_000014.9:g.95108461G>A	TOPMed
DICER1	Q9UPY3	p.Pro767His	rs764001016	missense variant	-	NC_000014.9:g.95108460G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr769Ter	rs776530416	stop gained	-	NC_000014.9:g.95108453G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Val776Gly	rs1060503618	missense variant	-	NC_000014.9:g.95108433A>C	-
DICER1	Q9UPY3	p.Val776Gly	RCV000463888	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108433A>C	ClinVar
DICER1	Q9UPY3	p.Thr779Ala	rs1555370931	missense variant	-	NC_000014.9:g.95108425T>C	-
DICER1	Q9UPY3	p.Thr779Ala	RCV000543737	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108425T>C	ClinVar
DICER1	Q9UPY3	p.Glu784Ter	RCV000493374	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108410C>A	ClinVar
DICER1	Q9UPY3	p.Glu784Ter	rs1131691210	stop gained	-	NC_000014.9:g.95108410C>A	-
DICER1	Q9UPY3	p.Phe787Leu	rs367950170	missense variant	-	NC_000014.9:g.95108399A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg789Lys	RCV000703508	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108394C>T	ClinVar
DICER1	Q9UPY3	p.Arg790Gln	rs762784970	missense variant	-	NC_000014.9:g.95108391C>T	-
DICER1	Q9UPY3	p.Lys791Arg	rs748518606	missense variant	-	NC_000014.9:g.95108388T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu792Ter	RCV000654467	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108388_95108391dup	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	RCV000463608	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108382T>C	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	RCV000566994	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108382T>C	ClinVar
DICER1	Q9UPY3	p.Tyr793Cys	rs527568726	missense variant	-	NC_000014.9:g.95108382T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro794Ser	RCV000462319	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108380G>A	ClinVar
DICER1	Q9UPY3	p.Pro794Ser	rs1060503620	missense variant	-	NC_000014.9:g.95108380G>A	-
DICER1	Q9UPY3	p.Asp797Gly	rs755375348	missense variant	-	NC_000014.9:g.95108370T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp797Gly	RCV000546389	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108370T>C	ClinVar
DICER1	Q9UPY3	p.Asp797Gly	RCV000563012	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108370T>C	ClinVar
DICER1	Q9UPY3	p.Thr798Ter	RCV000240963	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.del798del	RCV000240963	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Thr798Ala	rs1191387730	missense variant	-	NC_000014.9:g.95108368T>C	gnomAD
DICER1	Q9UPY3	p.Thr798Ter	RCV000493145	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.del798del	RCV000493145	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
DICER1	Q9UPY3	p.Arg800Gly	RCV000564417	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108362T>C	ClinVar
DICER1	Q9UPY3	p.Arg800Ter	RCV000493596	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108361del	ClinVar
DICER1	Q9UPY3	p.Arg800Gly	rs1555370905	missense variant	-	NC_000014.9:g.95108362T>C	-
DICER1	Q9UPY3	p.Cys801Gly	RCV000463309	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108359A>C	ClinVar
DICER1	Q9UPY3	p.Cys801Gly	rs1060503599	missense variant	-	NC_000014.9:g.95108359A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr806Met	RCV000467724	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108343G>A	ClinVar
DICER1	Q9UPY3	p.Thr806Met	rs749834289	missense variant	-	NC_000014.9:g.95108343G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys808Ile	rs1232785791	missense variant	-	NC_000014.9:g.95108337T>A	gnomAD
DICER1	Q9UPY3	p.Ile810Val	RCV000566847	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108332T>C	ClinVar
DICER1	Q9UPY3	p.Ile810Val	rs1555370881	missense variant	-	NC_000014.9:g.95108332T>C	-
DICER1	Q9UPY3	p.Gln812Arg	RCV000556511	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108325T>C	ClinVar
DICER1	Q9UPY3	p.Gln812Pro	rs750049051	missense variant	-	NC_000014.9:g.95108325T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln812Arg	rs750049051	missense variant	-	NC_000014.9:g.95108325T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile813Val	rs1354652606	missense variant	-	NC_000014.9:g.95108093T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro817Ala	rs774540239	missense variant	-	NC_000014.9:g.95108081G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr819His	RCV000562879	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108075A>G	ClinVar
DICER1	Q9UPY3	p.Tyr819His	rs1238286921	missense variant	-	NC_000014.9:g.95108075A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr826Ala	rs1328529319	missense variant	-	NC_000014.9:g.95108054T>C	TOPMed
DICER1	Q9UPY3	p.Ile829Thr	RCV000654378	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108044A>G	ClinVar
DICER1	Q9UPY3	p.Ile829Val	RCV000654368	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108045T>C	ClinVar
DICER1	Q9UPY3	p.Ile829Val	rs1038939677	missense variant	-	NC_000014.9:g.95108045T>C	TOPMed
DICER1	Q9UPY3	p.Ile829Thr	rs1555370828	missense variant	-	NC_000014.9:g.95108044A>G	-
DICER1	Q9UPY3	p.Lys832Glu	RCV000765198	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
DICER1	Q9UPY3	p.Lys832Glu	RCV000465553	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
DICER1	Q9UPY3	p.Lys832Asn	RCV000340356	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95108034C>G	ClinVar
DICER1	Q9UPY3	p.Lys832Asn	rs769292296	missense variant	-	NC_000014.9:g.95108034C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys832Glu	rs1060503613	missense variant	-	NC_000014.9:g.95108036T>C	-
DICER1	Q9UPY3	p.Lys832Arg	rs780581268	missense variant	-	NC_000014.9:g.95108035T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Phe836Val	RCV000689913	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108024A>C	ClinVar
DICER1	Q9UPY3	p.Phe836Ter	RCV000476393	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108022_95108023del	ClinVar
DICER1	Q9UPY3	p.Met837Ile	rs1360646143	missense variant	-	NC_000014.9:g.95108019C>A	gnomAD
DICER1	Q9UPY3	p.Leu838Val	rs745444772	missense variant	-	NC_000014.9:g.95108018A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser839Phe	RCV000023526	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	ClinVar
DICER1	Q9UPY3	p.Ser839Phe	rs387906934	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt,dbSNP
DICER1	Q9UPY3	p.Ser839Phe	VAR_065301	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt
DICER1	Q9UPY3	p.Ser839Phe	rs387906934	missense variant	-	NC_000014.9:g.95108014G>A	-
DICER1	Q9UPY3	p.Gln841Arg	RCV000706036	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108008T>C	ClinVar
DICER1	Q9UPY3	p.Gln841Arg	rs1417502290	missense variant	-	NC_000014.9:g.95108008T>C	gnomAD
DICER1	Q9UPY3	p.Leu843Phe	RCV000561754	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108003G>A	ClinVar
DICER1	Q9UPY3	p.Leu843Phe	rs1555370815	missense variant	-	NC_000014.9:g.95108003G>A	-
DICER1	Q9UPY3	p.Leu845Val	RCV000654374	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107997A>C	ClinVar
DICER1	Q9UPY3	p.Leu845Val	rs1182299033	missense variant	-	NC_000014.9:g.95107997A>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile846Val	RCV000560280	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	RCV000566427	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	RCV000765197	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
DICER1	Q9UPY3	p.Ile846Val	rs201212908	missense variant	-	NC_000014.9:g.95107994T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr847Ala	RCV000462537	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107991T>C	ClinVar
DICER1	Q9UPY3	p.Thr847Ala	rs1060503641	missense variant	-	NC_000014.9:g.95107991T>C	-
DICER1	Q9UPY3	p.Tyr852Cys	RCV000562908	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107975T>C	ClinVar
DICER1	Q9UPY3	p.Tyr852Cys	rs1555370802	missense variant	-	NC_000014.9:g.95107975T>C	-
DICER1	Q9UPY3	p.Ile853Val	rs61729795	missense variant	-	NC_000014.9:g.95107973T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile853Val	RCV000563365	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107973T>C	ClinVar
DICER1	Q9UPY3	p.Phe854Leu	RCV000654423	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107968G>T	ClinVar
DICER1	Q9UPY3	p.Phe854Leu	rs1555370794	missense variant	-	NC_000014.9:g.95107968G>T	-
DICER1	Q9UPY3	p.Ile857Val	rs567006441	missense variant	-	NC_000014.9:g.95107961T>C	gnomAD
DICER1	Q9UPY3	p.Ile857Thr	rs1290998883	missense variant	-	NC_000014.9:g.95107960A>G	gnomAD
DICER1	Q9UPY3	p.Arg859Trp	RCV000231736	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107955G>A	ClinVar
DICER1	Q9UPY3	p.Arg859Gln	rs765333464	missense variant	-	NC_000014.9:g.95107954C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg859Trp	rs144649926	missense variant	-	NC_000014.9:g.95107955G>A	ESP,gnomAD
DICER1	Q9UPY3	p.Thr870Ala	RCV000686840	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107922T>C	ClinVar
DICER1	Q9UPY3	p.Asp871Val	RCV000528728	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107918T>A	ClinVar
DICER1	Q9UPY3	p.Asp871Glu	rs759827733	missense variant	-	NC_000014.9:g.95107917G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp871Val	rs1555370776	missense variant	-	NC_000014.9:g.95107918T>A	-
DICER1	Q9UPY3	p.Ala872Thr	RCV000226630	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107916C>T	ClinVar
DICER1	Q9UPY3	p.Ala872Thr	rs149242330	missense variant	-	NC_000014.9:g.95107916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp873Gly	RCV000538878	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107912T>C	ClinVar
DICER1	Q9UPY3	p.Asp873His	RCV000570993	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107913C>G	ClinVar
DICER1	Q9UPY3	p.Asp873Gly	rs1555370765	missense variant	-	NC_000014.9:g.95107912T>C	-
DICER1	Q9UPY3	p.Asp873His	rs774672421	missense variant	-	NC_000014.9:g.95107913C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp873His	RCV000477212	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107913C>G	ClinVar
DICER1	Q9UPY3	p.Ala875Ser	RCV000549111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107907C>A	ClinVar
DICER1	Q9UPY3	p.Ala875Ser	rs1555370761	missense variant	-	NC_000014.9:g.95107907C>A	-
DICER1	Q9UPY3	p.Tyr876Cys	rs1165182865	missense variant	-	NC_000014.9:g.95107903T>C	gnomAD
DICER1	Q9UPY3	p.Cys877Ser	rs1411395826	missense variant	-	NC_000014.9:g.95107901A>T	gnomAD
DICER1	Q9UPY3	p.Pro880Leu	rs1456764595	missense variant	-	NC_000014.9:g.95107891G>A	TOPMed
DICER1	Q9UPY3	p.Leu881Val	rs1293281390	missense variant	-	NC_000014.9:g.95107889G>C	TOPMed
DICER1	Q9UPY3	p.Asn882Asp	RCV000693049	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107886T>C	ClinVar
DICER1	Q9UPY3	p.Val883Ile	RCV000654399	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107883C>T	ClinVar
DICER1	Q9UPY3	p.Val883Ile	rs1407338094	missense variant	-	NC_000014.9:g.95107883C>T	TOPMed
DICER1	Q9UPY3	p.Val883Ala	rs1164049706	missense variant	-	NC_000014.9:g.95107882A>G	gnomAD
DICER1	Q9UPY3	p.Ser887Tyr	RCV000654456	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>T	ClinVar
DICER1	Q9UPY3	p.Ser887Pro	RCV000228429	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107753A>G	ClinVar
DICER1	Q9UPY3	p.Ser887Phe	RCV000542681	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>A	ClinVar
DICER1	Q9UPY3	p.Ser887Tyr	rs139441077	missense variant	-	NC_000014.9:g.95107752G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser887Phe	RCV000575011	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107752G>A	ClinVar
DICER1	Q9UPY3	p.Ser887Pro	rs878855251	missense variant	-	NC_000014.9:g.95107753A>G	TOPMed
DICER1	Q9UPY3	p.Ser887Phe	rs139441077	missense variant	-	NC_000014.9:g.95107752G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp891Gly	rs1228272276	missense variant	-	NC_000014.9:g.95107740T>C	gnomAD
DICER1	Q9UPY3	p.Phe894Leu	RCV000552892	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107730A>C	ClinVar
DICER1	Q9UPY3	p.Phe894Leu	rs760009604	missense variant	-	NC_000014.9:g.95107730A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met897Val	RCV000458127	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107723T>C	ClinVar
DICER1	Q9UPY3	p.Met897Val	rs373729361	missense variant	-	NC_000014.9:g.95107723T>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ile900Leu	rs1302387713	missense variant	-	NC_000014.9:g.95107714T>G	gnomAD
DICER1	Q9UPY3	p.Ile900Thr	rs777174247	missense variant	-	NC_000014.9:g.95107713A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys902Arg	rs1377401799	missense variant	-	NC_000014.9:g.95107707T>C	gnomAD
DICER1	Q9UPY3	p.Lys902Glu	rs1402233762	missense variant	-	NC_000014.9:g.95107708T>C	gnomAD
DICER1	Q9UPY3	p.Arg906His	RCV000232332	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>T	ClinVar
DICER1	Q9UPY3	p.Arg906His	rs150510758	missense variant	-	NC_000014.9:g.95107695C>T	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906Leu	rs150510758	missense variant	-	NC_000014.9:g.95107695C>A	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906Leu	RCV000531168	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>A	ClinVar
DICER1	Q9UPY3	p.Arg906Cys	rs770335698	missense variant	-	NC_000014.9:g.95107696G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg906Cys	RCV000654400	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107696G>A	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000574505	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000472819	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	RCV000761114	missense variant	Acute megakaryoblastic leukemia	NC_000014.9:g.95107692A>G	ClinVar
DICER1	Q9UPY3	p.Ile907Thr	rs200408568	missense variant	-	NC_000014.9:g.95107692A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Val	rs1178414622	missense variant	-	NC_000014.9:g.95107693T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Leu	rs1178414622	missense variant	-	NC_000014.9:g.95107693T>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile907Arg	rs200408568	missense variant	-	NC_000014.9:g.95107692A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile909Val	RCV000697264	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107687T>C	ClinVar
DICER1	Q9UPY3	p.Ile909Val	rs1167073557	missense variant	-	NC_000014.9:g.95107687T>C	TOPMed
DICER1	Q9UPY3	p.Ser911Asn	RCV000555481	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107680C>T	ClinVar
DICER1	Q9UPY3	p.Ser911Asn	rs771697618	missense variant	-	NC_000014.9:g.95107680C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys913Thr	RCV000472190	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107674T>G	ClinVar
DICER1	Q9UPY3	p.Lys913Arg	rs1060503649	missense variant	-	NC_000014.9:g.95107674T>C	gnomAD
DICER1	Q9UPY3	p.Lys913Thr	rs1060503649	missense variant	-	NC_000014.9:g.95107674T>G	gnomAD
DICER1	Q9UPY3	p.Tyr914Cys	RCV000699754	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107671T>C	ClinVar
DICER1	Q9UPY3	p.Thr915Ala	RCV000529269	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107669T>C	ClinVar
DICER1	Q9UPY3	p.Thr915Ala	rs1179517249	missense variant	-	NC_000014.9:g.95107669T>C	gnomAD
DICER1	Q9UPY3	p.Lys916Thr	rs747825442	missense variant	-	NC_000014.9:g.95107665T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu917Ter	RCV000494012	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.del917del	RCV000494012	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.del917del	RCV000240925	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.Glu917Ter	RCV000240925	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
DICER1	Q9UPY3	p.Glu917Ter	rs886037692	stop gained	-	NC_000014.9:g.95107663C>A	-
DICER1	Q9UPY3	p.Thr918Ser	RCV000229873	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107660T>A	ClinVar
DICER1	Q9UPY3	p.Thr918Ser	RCV000572375	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107660T>A	ClinVar
DICER1	Q9UPY3	p.Thr918Ser	rs377326167	missense variant	-	NC_000014.9:g.95107660T>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr918Ala	rs377326167	missense variant	-	NC_000014.9:g.95107660T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys923Gln	rs1357513890	missense variant	-	NC_000014.9:g.95107645T>G	TOPMed
DICER1	Q9UPY3	p.Asp926His	RCV000460548	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107636C>G	ClinVar
DICER1	Q9UPY3	p.Asp926His	rs1060503645	missense variant	-	NC_000014.9:g.95107636C>G	-
DICER1	Q9UPY3	p.Val931Ile	rs1256068472	missense variant	-	NC_000014.9:g.95107621C>T	gnomAD
DICER1	Q9UPY3	p.Pro934Leu	rs1211667485	missense variant	-	NC_000014.9:g.95107611G>A	gnomAD
DICER1	Q9UPY3	p.Arg935Lys	rs757277030	missense variant	-	NC_000014.9:g.95107608C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg937Cys	rs1354833117	missense variant	-	NC_000014.9:g.95106219G>A	gnomAD
DICER1	Q9UPY3	p.Gln941Glu	RCV000467203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106207G>C	ClinVar
DICER1	Q9UPY3	p.Gln941Glu	rs1060503588	missense variant	-	NC_000014.9:g.95106207G>C	-
DICER1	Q9UPY3	p.Arg944Ter	RCV000240862	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Gln	RCV000654383	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106197C>T	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	RCV000493701	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	RCV000004727	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95106198G>A	ClinVar
DICER1	Q9UPY3	p.Arg944Ter	rs137852978	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95106198G>A	-
DICER1	Q9UPY3	p.Arg944Gln	rs1555370340	missense variant	-	NC_000014.9:g.95106197C>T	-
DICER1	Q9UPY3	p.Thr952Ser	RCV000566505	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106174T>A	ClinVar
DICER1	Q9UPY3	p.Thr952Ala	RCV000467314	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106174T>C	ClinVar
DICER1	Q9UPY3	p.Thr952Ser	rs1060503636	missense variant	-	NC_000014.9:g.95106174T>A	TOPMed
DICER1	Q9UPY3	p.Thr952Ala	rs1060503636	missense variant	-	NC_000014.9:g.95106174T>C	TOPMed
DICER1	Q9UPY3	p.Asp953Asn	rs745810853	missense variant	-	NC_000014.9:g.95106171C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu954Phe	rs1458698147	missense variant	-	NC_000014.9:g.95106168G>A	gnomAD
DICER1	Q9UPY3	p.Thr955Ter	RCV000240900	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
DICER1	Q9UPY3	p.del955del	RCV000240900	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
DICER1	Q9UPY3	p.Thr955Ile	rs1167965153	missense variant	-	NC_000014.9:g.95106164G>A	TOPMed
DICER1	Q9UPY3	p.Pro956Ter	RCV000240927	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
DICER1	Q9UPY3	p.del956del	RCV000240927	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
DICER1	Q9UPY3	p.Leu957Phe	RCV000466824	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159G>A	ClinVar
DICER1	Q9UPY3	p.Leu957Phe	rs1060503634	missense variant	-	NC_000014.9:g.95106159G>A	-
DICER1	Q9UPY3	p.Ser958Gly	RCV000226550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106156T>C	ClinVar
DICER1	Q9UPY3	p.Ser958Gly	RCV000562549	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106156T>C	ClinVar
DICER1	Q9UPY3	p.Ser958Gly	rs752905540	missense variant	-	NC_000014.9:g.95106156T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro963Ter	RCV000240864	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.del963del	RCV000240864	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.Pro963Ter	RCV000494157	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.del963del	RCV000494157	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
DICER1	Q9UPY3	p.Pro963Leu	rs917082902	missense variant	-	NC_000014.9:g.95106140G>A	TOPMed
DICER1	Q9UPY3	p.Ala969Val	RCV000233100	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106122G>A	ClinVar
DICER1	Q9UPY3	p.Ala969Val	rs878855253	missense variant	-	NC_000014.9:g.95106122G>A	-
DICER1	Q9UPY3	p.Glu970Gln	RCV000572780	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106120C>G	ClinVar
DICER1	Q9UPY3	p.Glu970Gln	rs1555370302	missense variant	-	NC_000014.9:g.95106120C>G	-
DICER1	Q9UPY3	p.Lys973Asn	RCV000533030	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106109T>G	ClinVar
DICER1	Q9UPY3	p.Lys973Asn	rs1555370297	missense variant	-	NC_000014.9:g.95106109T>G	-
DICER1	Q9UPY3	p.Asn977Ser	rs1227283210	missense variant	-	NC_000014.9:g.95106098T>C	TOPMed
DICER1	Q9UPY3	p.Asn982Lys	RCV000462016	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106082A>T	ClinVar
DICER1	Q9UPY3	p.Asn982Ser	RCV000696284	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106083T>C	ClinVar
DICER1	Q9UPY3	p.Asn982Lys	rs1060503631	missense variant	-	NC_000014.9:g.95106082A>T	-
DICER1	Q9UPY3	p.Asn982Ser	rs1376668585	missense variant	-	NC_000014.9:g.95106083T>C	gnomAD
DICER1	Q9UPY3	p.Leu983Val	rs1267003109	missense variant	-	NC_000014.9:g.95106081G>C	gnomAD
DICER1	Q9UPY3	p.Leu983Pro	rs766675570	missense variant	-	NC_000014.9:g.95106080A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu983Phe	rs1267003109	missense variant	-	NC_000014.9:g.95106081G>A	gnomAD
DICER1	Q9UPY3	p.Leu983Arg	rs766675570	missense variant	-	NC_000014.9:g.95106080A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn984Ser	RCV000465498	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106077T>C	ClinVar
DICER1	Q9UPY3	p.Asn984Ser	RCV000563512	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106077T>C	ClinVar
DICER1	Q9UPY3	p.Asn984Thr	rs750932552	missense variant	-	NC_000014.9:g.95106077T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn984Ser	rs750932552	missense variant	-	NC_000014.9:g.95106077T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln985Ter	RCV000654466	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106073delinsAA	ClinVar
DICER1	Q9UPY3	p.Gln985Ter	RCV000468167	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106076del	ClinVar
DICER1	Q9UPY3	p.Val990Met	rs1443445976	missense variant	-	NC_000014.9:g.95106060C>T	gnomAD
DICER1	Q9UPY3	p.Thr1001Ile	rs756484303	missense variant	-	NC_000014.9:g.95105769G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1003Ter	RCV000465236	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105764G>A	ClinVar
DICER1	Q9UPY3	p.Arg1003Ter	RCV000851456	nonsense	-	NC_000014.9:g.95105764G>A	ClinVar
DICER1	Q9UPY3	p.Arg1003Ter	rs1060503605	stop gained	-	NC_000014.9:g.95105764G>A	gnomAD
DICER1	Q9UPY3	p.Gln1007Ter	RCV000492911	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105752G>A	ClinVar
DICER1	Q9UPY3	p.Gln1007Ter	RCV000524088	nonsense	-	NC_000014.9:g.95105752G>A	ClinVar
DICER1	Q9UPY3	p.Gln1007Ter	rs1131691189	stop gained	-	NC_000014.9:g.95105752G>A	-
DICER1	Q9UPY3	p.Lys1008Asn	rs750927764	missense variant	-	NC_000014.9:g.95105747C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1011Val	rs772243498	missense variant	-	NC_000014.9:g.95105739G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1011Val	RCV000654436	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105739G>A	ClinVar
DICER1	Q9UPY3	p.Ser1016Asn	RCV000689357	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105724C>T	ClinVar
DICER1	Q9UPY3	p.Lys1023Arg	rs762411266	missense variant	-	NC_000014.9:g.95105703T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Trp1024Leu	rs751053813	missense variant	-	NC_000014.9:g.95105700C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1025Gly	RCV000537842	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105697T>C	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	RCV000493873	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105698C>A	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	RCV000521958	nonsense	-	NC_000014.9:g.95105698C>A	ClinVar
DICER1	Q9UPY3	p.Glu1025Ter	rs1131691225	stop gained	-	NC_000014.9:g.95105698C>A	-
DICER1	Q9UPY3	p.Glu1025Gly	rs1191384264	missense variant	-	NC_000014.9:g.95105697T>C	gnomAD
DICER1	Q9UPY3	p.Ser1026Gly	rs763715930	missense variant	-	NC_000014.9:g.95105695T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1036Lys	rs749392411	missense variant	-	NC_000014.9:g.95105234C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1040Val	RCV000497463	missense variant	-	NC_000014.9:g.95105222T>C	ClinVar
DICER1	Q9UPY3	p.Ile1040Val	RCV000685635	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105222T>C	ClinVar
DICER1	Q9UPY3	p.Ile1040Met	rs1195908211	missense variant	-	NC_000014.9:g.95105220T>C	TOPMed
DICER1	Q9UPY3	p.Ile1040Val	rs1555370052	missense variant	-	NC_000014.9:g.95105222T>C	-
DICER1	Q9UPY3	p.Pro1042Ser	RCV000561799	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105216G>A	ClinVar
DICER1	Q9UPY3	p.Pro1042Ser	rs1555370050	missense variant	-	NC_000014.9:g.95105216G>A	-
DICER1	Q9UPY3	p.Ile1043Val	RCV000465152	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105213T>C	ClinVar
DICER1	Q9UPY3	p.Ile1043Val	RCV000564082	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105213T>C	ClinVar
DICER1	Q9UPY3	p.Ile1043Val	rs1060503592	missense variant	-	NC_000014.9:g.95105213T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1045Pro	rs878855255	missense variant	-	NC_000014.9:g.95105207C>G	-
DICER1	Q9UPY3	p.Ala1045Pro	RCV000230898	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105207C>G	ClinVar
DICER1	Q9UPY3	p.Ser1046Ter	RCV000240905	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
DICER1	Q9UPY3	p.del1046del	RCV000240905	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
DICER1	Q9UPY3	p.Leu1054Pro	RCV000691310	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105179A>G	ClinVar
DICER1	Q9UPY3	p.Pro1055Leu	rs1413756805	missense variant	-	NC_000014.9:g.95105176G>A	gnomAD
DICER1	Q9UPY3	p.Ile1057Val	rs769846317	missense variant	-	NC_000014.9:g.95105171T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1057Met	rs976698124	missense variant	-	NC_000014.9:g.95105169T>C	TOPMed
DICER1	Q9UPY3	p.Leu1058Ile	RCV000558190	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105168G>T	ClinVar
DICER1	Q9UPY3	p.Leu1058Ile	rs1555370024	missense variant	-	NC_000014.9:g.95105168G>T	-
DICER1	Q9UPY3	p.Tyr1059Ter	RCV000240943	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105167dup	ClinVar
DICER1	Q9UPY3	p.Arg1060Cys	RCV000498545	missense variant	-	NC_000014.9:g.95105162G>A	ClinVar
DICER1	Q9UPY3	p.Arg1060Leu	RCV000687493	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105161C>A	ClinVar
DICER1	Q9UPY3	p.Arg1060Cys	rs1555370020	missense variant	-	NC_000014.9:g.95105162G>A	-
DICER1	Q9UPY3	p.His1062Arg	rs1398724408	missense variant	-	NC_000014.9:g.95105155T>C	TOPMed
DICER1	Q9UPY3	p.Thr1066Ile	rs1313061695	missense variant	-	NC_000014.9:g.95105143G>A	gnomAD
DICER1	Q9UPY3	p.Ala1067Thr	rs1385079711	missense variant	-	NC_000014.9:g.95105141C>T	gnomAD
DICER1	Q9UPY3	p.Thr1074Ile	RCV000472928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105119G>A	ClinVar
DICER1	Q9UPY3	p.Thr1074Ile	rs1060503653	missense variant	-	NC_000014.9:g.95105119G>A	-
DICER1	Q9UPY3	p.Ser1076Arg	RCV000569044	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105112G>T	ClinVar
DICER1	Q9UPY3	p.Ser1076Asn	RCV000476968	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105113C>T	ClinVar
DICER1	Q9UPY3	p.Ser1076Arg	rs867768809	missense variant	-	NC_000014.9:g.95105112G>T	-
DICER1	Q9UPY3	p.Ser1076Asn	rs778494781	missense variant	-	NC_000014.9:g.95105113C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1077Asn	RCV000654460	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105111C>T	ClinVar
DICER1	Q9UPY3	p.Asp1077Asn	rs373412959	missense variant	-	NC_000014.9:g.95105111C>T	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1077His	rs373412959	missense variant	-	NC_000014.9:g.95105111C>G	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1078Ser	rs1488726216	missense variant	-	NC_000014.9:g.95105108C>A	gnomAD
DICER1	Q9UPY3	p.Arg1083Ser	RCV000654421	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105091T>A	ClinVar
DICER1	Q9UPY3	p.Arg1083Thr	RCV000459111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105092C>G	ClinVar
DICER1	Q9UPY3	p.Arg1083Thr	rs1060503616	missense variant	-	NC_000014.9:g.95105092C>G	-
DICER1	Q9UPY3	p.Arg1083Ser	rs1291112028	missense variant	-	NC_000014.9:g.95105091T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Val	RCV000471385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>A	ClinVar
DICER1	Q9UPY3	p.Ala1087Val	RCV000572177	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>A	ClinVar
DICER1	Q9UPY3	p.Ala1087Gly	RCV000525561	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>C	ClinVar
DICER1	Q9UPY3	p.Ala1087Glu	RCV000551807	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>T	ClinVar
DICER1	Q9UPY3	p.Ala1087Gly	RCV000561162	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>C	ClinVar
DICER1	Q9UPY3	p.Ala1087Val	rs180918578	missense variant	-	NC_000014.9:g.95105080G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Glu	rs180918578	missense variant	-	NC_000014.9:g.95105080G>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1087Gly	rs180918578	missense variant	-	NC_000014.9:g.95105080G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1088Glu	rs376110719	missense variant	-	NC_000014.9:g.95105076A>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1091Ter	RCV000240881	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104123G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1091Phe	RCV000540270	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104124T>A	ClinVar
DICER1	Q9UPY3	p.Tyr1091Phe	rs1442769827	missense variant	-	NC_000014.9:g.95104124T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1091Ter	rs886037698	stop gained	-	NC_000014.9:g.95104123G>C	-
DICER1	Q9UPY3	p.Tyr1091Ter	RCV000851457	nonsense	-	NC_000014.9:g.95104123G>C	ClinVar
DICER1	Q9UPY3	p.Pro1092Ter	RCV000493882	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Pro1092Ter	RCV000240906	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Pro1092Arg	rs1196047547	missense variant	-	NC_000014.9:g.95104121G>C	TOPMed
DICER1	Q9UPY3	p.del1093del	RCV000493882	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.del1093del	RCV000240906	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
DICER1	Q9UPY3	p.Gly1097Val	RCV000706333	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104106C>A	ClinVar
DICER1	Q9UPY3	p.Gly1097Arg	rs1466088737	missense variant	-	NC_000014.9:g.95104107C>T	gnomAD
DICER1	Q9UPY3	p.Lys1099Arg	RCV000690410	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104100T>C	ClinVar
DICER1	Q9UPY3	p.Lys1099Glu	RCV000695400	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101T>C	ClinVar
DICER1	Q9UPY3	p.Lys1099Arg	rs1356351330	missense variant	-	NC_000014.9:g.95104100T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.del1100del	RCV000493122	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.Lys1100Ter	RCV000493122	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.Lys1100Ter	RCV000240946	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.del1100del	RCV000240946	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
DICER1	Q9UPY3	p.Lys1100Asn	rs1417728231	missense variant	-	NC_000014.9:g.95104096T>G	TOPMed
DICER1	Q9UPY3	p.Ser1101Cys	RCV000553084	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104094G>C	ClinVar
DICER1	Q9UPY3	p.Ser1101Cys	rs779748717	missense variant	-	NC_000014.9:g.95104094G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1102Val	rs750159753	missense variant	-	NC_000014.9:g.95104092T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1102Phe	rs750159753	missense variant	-	NC_000014.9:g.95104092T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1103Val	RCV000696513	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104088T>A	ClinVar
DICER1	Q9UPY3	p.Ser1104Arg	RCV000654384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104084G>C	ClinVar
DICER1	Q9UPY3	p.Ser1104Arg	rs1555369738	missense variant	-	NC_000014.9:g.95104084G>C	-
DICER1	Q9UPY3	p.Ser1106Tyr	rs761613375	missense variant	-	NC_000014.9:g.95104079G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1108Val	rs751551790	missense variant	-	NC_000014.9:g.95104074T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1110Val	RCV000697698	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104068T>C	ClinVar
DICER1	Q9UPY3	p.Ile1110Ser	RCV000561530	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104067A>C	ClinVar
DICER1	Q9UPY3	p.Ile1110Ser	rs759760077	missense variant	-	NC_000014.9:g.95104067A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1110Ser	RCV000458245	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104067A>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	RCV000280432	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95104062T>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	RCV000462299	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104062T>C	ClinVar
DICER1	Q9UPY3	p.Asn1112Asp	rs587778229	missense variant	-	NC_000014.9:g.95104062T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1113Tyr	RCV000476785	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104058G>T	ClinVar
DICER1	Q9UPY3	p.Ser1113Tyr	RCV000571981	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104058G>T	ClinVar
DICER1	Q9UPY3	p.Ser1113Tyr	rs143841809	missense variant	-	NC_000014.9:g.95104058G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1113Phe	rs143841809	missense variant	-	NC_000014.9:g.95104058G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1114Cys	RCV000687116	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104055G>C	ClinVar
DICER1	Q9UPY3	p.Ser1114Cys	rs1278843875	missense variant	-	NC_000014.9:g.95104055G>C	gnomAD
DICER1	Q9UPY3	p.Ser1115Ter	rs1255583940	stop gained	-	NC_000014.9:g.95104052G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1116Ter	RCV000493717	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104051dup	ClinVar
DICER1	Q9UPY3	p.Ala1116Asp	rs1236050119	missense variant	-	NC_000014.9:g.95104049G>T	gnomAD
DICER1	Q9UPY3	p.Glu1117Ter	rs1060503617	stop gained	-	NC_000014.9:g.95104047C>A	-
DICER1	Q9UPY3	p.Glu1117Ter	RCV000468408	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104047C>A	ClinVar
DICER1	Q9UPY3	p.Asn1118Ser	rs773410751	missense variant	-	NC_000014.9:g.95104043T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1118Ser	RCV000471510	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104043T>C	ClinVar
DICER1	Q9UPY3	p.Asn1120Ser	RCV000654468	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104037T>C	ClinVar
DICER1	Q9UPY3	p.Asn1120Ser	rs1555369701	missense variant	-	NC_000014.9:g.95104037T>C	-
DICER1	Q9UPY3	p.Cys1122Arg	RCV000552304	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104032A>G	ClinVar
DICER1	Q9UPY3	p.Cys1122Arg	rs1555369696	missense variant	-	NC_000014.9:g.95104032A>G	-
DICER1	Q9UPY3	p.His1124Pro	rs534996867	missense variant	-	NC_000014.9:g.95104025T>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1125Asn	RCV000568324	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104022C>T	ClinVar
DICER1	Q9UPY3	p.Ser1125Asn	RCV000234636	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104022C>T	ClinVar
DICER1	Q9UPY3	p.Ser1125Asn	rs748581847	missense variant	-	NC_000014.9:g.95104022C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1126Ala	rs1296404230	missense variant	-	NC_000014.9:g.95104020T>C	gnomAD
DICER1	Q9UPY3	p.Ile1127Ser	RCV000476694	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104016A>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Val	RCV000530594	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104017T>C	ClinVar
DICER1	Q9UPY3	p.Ile1127Val	rs779530679	missense variant	-	NC_000014.9:g.95104017T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1127Ser	rs567895583	missense variant	-	NC_000014.9:g.95104016A>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1127Ser	RCV000564833	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104016A>C	ClinVar
DICER1	Q9UPY3	p.Pro1129Ser	rs1175693367	missense variant	-	NC_000014.9:g.95104011G>A	gnomAD
DICER1	Q9UPY3	p.Glu1130Lys	RCV000654471	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104008C>T	ClinVar
DICER1	Q9UPY3	p.Glu1130Ala	rs748728275	missense variant	-	NC_000014.9:g.95104007T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1130Lys	rs1555369685	missense variant	-	NC_000014.9:g.95104008C>T	-
DICER1	Q9UPY3	p.Asn1131Ser	RCV000468980	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104004T>C	ClinVar
DICER1	Q9UPY3	p.Asn1131Ser	rs200651335	missense variant	-	NC_000014.9:g.95104004T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1133Thr	RCV000563850	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103999C>T	ClinVar
DICER1	Q9UPY3	p.Ala1133Thr	rs1555369675	missense variant	-	NC_000014.9:g.95103999C>T	-
DICER1	Q9UPY3	p.His1134Leu	rs1159674119	missense variant	-	NC_000014.9:g.95103995T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1135Lys	rs755711684	missense variant	-	NC_000014.9:g.95103993G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1135Lys	RCV000654377	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103993G>T	ClinVar
DICER1	Q9UPY3	p.Arg1139Ser	RCV000572785	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103979T>A	ClinVar
DICER1	Q9UPY3	p.Arg1139Ser	rs750104632	missense variant	-	NC_000014.9:g.95103979T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1139Ser	RCV000456808	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103979T>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	RCV000477099	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103974G>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	RCV000570654	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103974G>A	ClinVar
DICER1	Q9UPY3	p.Ser1141Phe	rs780815020	missense variant	-	NC_000014.9:g.95103974G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1142Pro	RCV000699665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103972A>G	ClinVar
DICER1	Q9UPY3	p.Ser1142Phe	rs1212563071	missense variant	-	NC_000014.9:g.95103971G>A	gnomAD
DICER1	Q9UPY3	p.Ser1142Pro	rs1257619891	missense variant	-	NC_000014.9:g.95103972A>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1143Pro	RCV000564869	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103968A>G	ClinVar
DICER1	Q9UPY3	p.Leu1143Ile	rs375211466	missense variant	-	NC_000014.9:g.95103969G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1143Pro	rs139786661	missense variant	-	NC_000014.9:g.95103968A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His1146Arg	RCV000686020	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103959T>C	ClinVar
DICER1	Q9UPY3	p.His1146Asp	rs1240541454	missense variant	-	NC_000014.9:g.95103960G>C	gnomAD
DICER1	Q9UPY3	p.Gln1148Arg	rs764029077	missense variant	-	NC_000014.9:g.95103953T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1149Ile	RCV000557215	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103949C>G	ClinVar
DICER1	Q9UPY3	p.Met1149Ile	rs1304695583	missense variant	-	NC_000014.9:g.95103949C>G	gnomAD
DICER1	Q9UPY3	p.Met1149Ile	rs1304695583	missense variant	-	NC_000014.9:g.95103949C>T	gnomAD
DICER1	Q9UPY3	p.Ser1150Phe	RCV000701612	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103947G>A	ClinVar
DICER1	Q9UPY3	p.Val1151Ter	RCV000564921	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103943_95103944CA[1]	ClinVar
DICER1	Q9UPY3	p.Val1151Ala	rs1321219152	missense variant	-	NC_000014.9:g.95103944A>G	TOPMed
DICER1	Q9UPY3	p.Cys1153Gly	RCV000468990	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103939A>C	ClinVar
DICER1	Q9UPY3	p.Cys1153Phe	RCV000654401	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103938C>A	ClinVar
DICER1	Q9UPY3	p.Cys1153Gly	rs1060503607	missense variant	-	NC_000014.9:g.95103939A>C	-
DICER1	Q9UPY3	p.Cys1153Tyr	rs762999390	missense variant	-	NC_000014.9:g.95103938C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Cys1153Phe	rs762999390	missense variant	-	NC_000014.9:g.95103938C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1154Ser	RCV000545736	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103934T>G	ClinVar
DICER1	Q9UPY3	p.Arg1154Ile	RCV000530978	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103935C>A	ClinVar
DICER1	Q9UPY3	p.Arg1154Ser	rs192822778	missense variant	-	NC_000014.9:g.95103934T>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1154Ile	rs1555369626	missense variant	-	NC_000014.9:g.95103935C>A	-
DICER1	Q9UPY3	p.Thr1155Met	rs766598800	missense variant	-	NC_000014.9:g.95103932G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1156Val	RCV000206633	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103930A>C	ClinVar
DICER1	Q9UPY3	p.Leu1156Val	rs760950917	missense variant	-	NC_000014.9:g.95103930A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1158Cys	RCV000654371	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103924T>A	ClinVar
DICER1	Q9UPY3	p.Ser1158Cys	rs949633145	missense variant	-	NC_000014.9:g.95103924T>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1159Lys	RCV000654385	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103921C>T	ClinVar
DICER1	Q9UPY3	p.Glu1159Lys	rs145693584	missense variant	-	NC_000014.9:g.95103921C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1159Gln	rs145693584	missense variant	-	NC_000014.9:g.95103921C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1160Tyr	RCV000565593	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103917G>T	ClinVar
DICER1	Q9UPY3	p.Ser1160Tyr	rs774583162	missense variant	-	NC_000014.9:g.95103917G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1160Thr	rs1354557070	missense variant	-	NC_000014.9:g.95103918A>T	TOPMed
DICER1	Q9UPY3	p.Ser1160Tyr	RCV000228406	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103917G>T	ClinVar
DICER1	Q9UPY3	p.Pro1161Ser	rs1476564840	missense variant	-	NC_000014.9:g.95103915G>A	gnomAD
DICER1	Q9UPY3	p.Gly1162Ser	rs1287752405	missense variant	-	NC_000014.9:g.95103912C>T	TOPMed
DICER1	Q9UPY3	p.Leu1164His	rs1424957932	missense variant	-	NC_000014.9:g.95103905A>T	gnomAD
DICER1	Q9UPY3	p.His1165Gln	rs372581591	missense variant	-	NC_000014.9:g.95103901G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.His1165Gln	rs372581591	missense variant	-	NC_000014.9:g.95103901G>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1166Ile	RCV000232173	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103900C>T	ClinVar
DICER1	Q9UPY3	p.Val1166Ile	rs368588781	missense variant	-	NC_000014.9:g.95103900C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1167Lys	RCV000654391	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103897C>T	ClinVar
DICER1	Q9UPY3	p.Glu1167Asp	RCV000544961	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103895T>A	ClinVar
DICER1	Q9UPY3	p.Glu1167Asp	rs878855258	missense variant	-	NC_000014.9:g.95103895T>A	-
DICER1	Q9UPY3	p.Glu1167Lys	rs1456267980	missense variant	-	NC_000014.9:g.95103897C>T	TOPMed
DICER1	Q9UPY3	p.Ala1170Thr	RCV000706636	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103888C>T	ClinVar
DICER1	Q9UPY3	p.Ala1170Gly	rs1484416477	missense variant	-	NC_000014.9:g.95103887G>C	gnomAD
DICER1	Q9UPY3	p.Asp1171Gly	rs953998753	missense variant	-	NC_000014.9:g.95103884T>C	TOPMed
DICER1	Q9UPY3	p.Leu1172Ile	rs1028179766	missense variant	-	NC_000014.9:g.95103882G>T	TOPMed
DICER1	Q9UPY3	p.Leu1172Ter	RCV000240884	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.del1172del	RCV000240884	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.Leu1172Ter	RCV000494025	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.del1172del	RCV000494025	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
DICER1	Q9UPY3	p.Thr1173Ile	RCV000472462	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103878G>A	ClinVar
DICER1	Q9UPY3	p.Thr1173Lys	rs769329149	missense variant	-	NC_000014.9:g.95103878G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1173Ile	rs769329149	missense variant	-	NC_000014.9:g.95103878G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1176Ser	RCV000537925	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103869T>C	ClinVar
DICER1	Q9UPY3	p.Asn1176Ser	rs1555369577	missense variant	-	NC_000014.9:g.95103869T>C	-
DICER1	Q9UPY3	p.Gly1177Val	RCV000563568	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103866C>A	ClinVar
DICER1	Q9UPY3	p.Gly1177Val	rs1160985143	missense variant	-	NC_000014.9:g.95103866C>A	TOPMed
DICER1	Q9UPY3	p.Gly1177Cys	rs1486689185	missense variant	-	NC_000014.9:g.95103867C>A	gnomAD
DICER1	Q9UPY3	p.Leu1178Phe	RCV000547588	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103864G>A	ClinVar
DICER1	Q9UPY3	p.Leu1178Phe	rs780952666	missense variant	-	NC_000014.9:g.95103864G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1178Arg	rs1412362102	missense variant	-	NC_000014.9:g.95103863A>C	TOPMed
DICER1	Q9UPY3	p.Ser1179Cys	RCV000575641	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103860G>C	ClinVar
DICER1	Q9UPY3	p.Ser1179Ter	RCV000493223	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103858_95103861AAGA[1]	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	RCV000464700	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103860G>C	ClinVar
DICER1	Q9UPY3	p.Ser1179Cys	rs1060503585	missense variant	-	NC_000014.9:g.95103860G>C	gnomAD
DICER1	Q9UPY3	p.del1179del	RCV000240923	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
DICER1	Q9UPY3	p.Ser1179Ter	RCV000240923	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000240949	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103857_95103858del	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000240887	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000627259	nonsense	-	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	rs886037704	stop gained	-	NC_000014.9:g.95103856G>T	-
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000492848	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103857_95103858del	ClinVar
DICER1	Q9UPY3	p.Tyr1180Ter	RCV000494658	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103856G>T	ClinVar
DICER1	Q9UPY3	p.Asn1183Ser	rs1238231746	missense variant	-	NC_000014.9:g.95103848T>C	gnomAD
DICER1	Q9UPY3	p.Ala1185Thr	RCV000573896	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	RCV000761100	missense variant	Acute myeloid leukemia (AML)	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Ala1185Thr	rs150514959	missense variant	-	NC_000014.9:g.95103843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1185Thr	RCV000231625	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103843C>T	ClinVar
DICER1	Q9UPY3	p.Asn1186Ser	RCV000536034	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103839T>C	ClinVar
DICER1	Q9UPY3	p.Asn1186Ser	rs201523588	missense variant	-	NC_000014.9:g.95103839T>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1186Ile	rs201523588	missense variant	-	NC_000014.9:g.95103839T>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1187Asp	rs559078811	missense variant	-	NC_000014.9:g.95103836C>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1189Asn	rs1258777784	missense variant	-	NC_000014.9:g.95103831A>T	gnomAD
DICER1	Q9UPY3	p.Leu1191Phe	rs1316149579	missense variant	-	NC_000014.9:g.95103823T>G	gnomAD
DICER1	Q9UPY3	p.Asn1193Ser	RCV000690265	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103818T>C	ClinVar
DICER1	Q9UPY3	p.Asn1193Ser	RCV000765196	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103818T>C	ClinVar
DICER1	Q9UPY3	p.Asn1193Ter	RCV000240911	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103817_95103818del	ClinVar
DICER1	Q9UPY3	p.Asn1193Asp	rs1383245596	missense variant	-	NC_000014.9:g.95103819T>C	gnomAD
DICER1	Q9UPY3	p.Asn1193Ser	rs1288723916	missense variant	-	NC_000014.9:g.95103818T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1194Gly	rs766545351	missense variant	-	NC_000014.9:g.95103816T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1195His	RCV000569208	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103813C>G	ClinVar
DICER1	Q9UPY3	p.Asp1195His	rs1555369546	missense variant	-	NC_000014.9:g.95103813C>G	-
DICER1	Q9UPY3	p.Cys1197Ter	RCV000698895	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103805G>T	ClinVar
DICER1	Q9UPY3	p.Cys1197Ter	RCV000240953	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.del1197del	RCV000240953	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.del1197del	RCV000492875	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Cys1197Ter	RCV000492875	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
DICER1	Q9UPY3	p.Asn1200Asp	rs966682402	missense variant	-	NC_000014.9:g.95103798T>C	gnomAD
DICER1	Q9UPY3	p.Gln1201Glu	RCV000689751	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103795G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1204Ter	RCV000056333	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103780_95103785delinsA	ClinVar
DICER1	Q9UPY3	p.Lys1206Glu	RCV000386930	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103780T>C	ClinVar
DICER1	Q9UPY3	p.Lys1206Arg	rs761954648	missense variant	-	NC_000014.9:g.95103779T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1206Glu	rs886050942	missense variant	-	NC_000014.9:g.95103780T>C	-
DICER1	Q9UPY3	p.Pro1210Ser	RCV000466992	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103768G>A	ClinVar
DICER1	Q9UPY3	p.Pro1210Ser	RCV000570577	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103768G>A	ClinVar
DICER1	Q9UPY3	p.Pro1210Ser	rs200925349	missense variant	-	NC_000014.9:g.95103768G>A	TOPMed
DICER1	Q9UPY3	p.Val1211Met	RCV000525096	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>T	ClinVar
DICER1	Q9UPY3	p.Val1211Met	RCV000568526	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>T	ClinVar
DICER1	Q9UPY3	p.Val1211Leu	RCV000474677	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>G	ClinVar
DICER1	Q9UPY3	p.Val1211Leu	rs764470378	missense variant	-	NC_000014.9:g.95103765C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Leu	rs764470378	missense variant	-	NC_000014.9:g.95103765C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Met	rs764470378	missense variant	-	NC_000014.9:g.95103765C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1211Leu	RCV000571532	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>A	ClinVar
DICER1	Q9UPY3	p.Gln1212Pro	RCV000539806	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103761T>G	ClinVar
DICER1	Q9UPY3	p.Gln1212Pro	rs763415569	missense variant	-	NC_000014.9:g.95103761T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1213Ala	RCV000554547	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103759G>C	ClinVar
DICER1	Q9UPY3	p.Pro1213Ala	rs965289045	missense variant	-	NC_000014.9:g.95103759G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1214Ile	rs769277842	missense variant	-	NC_000014.9:g.95103755G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1214Ile	RCV000654473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103755G>A	ClinVar
DICER1	Q9UPY3	p.Thr1214Ala	RCV000528300	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103756T>C	ClinVar
DICER1	Q9UPY3	p.Thr1214Ala	rs776023608	missense variant	-	NC_000014.9:g.95103756T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1214Ala	RCV000570947	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103756T>C	ClinVar
DICER1	Q9UPY3	p.Ser1218Cys	RCV000540029	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>C	ClinVar
DICER1	Q9UPY3	p.Ser1218Tyr	RCV000706017	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>T	ClinVar
DICER1	Q9UPY3	p.Ser1218Cys	rs1197755223	missense variant	-	NC_000014.9:g.95103743G>C	TOPMed
DICER1	Q9UPY3	p.Gln1220Ter	RCV000240890	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103738G>A	ClinVar
DICER1	Q9UPY3	p.Gln1220Pro	rs776020604	missense variant	-	NC_000014.9:g.95103737T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1220Pro	RCV000654404	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103737T>G	ClinVar
DICER1	Q9UPY3	p.Gln1220Ter	rs886037707	stop gained	-	NC_000014.9:g.95103738G>A	-
DICER1	Q9UPY3	p.Gln1220Arg	rs776020604	missense variant	-	NC_000014.9:g.95103737T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1220Ter	RCV000494215	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103738G>A	ClinVar
DICER1	Q9UPY3	p.Tyr1223His	RCV000461690	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103729A>G	ClinVar
DICER1	Q9UPY3	p.Tyr1223His	rs1006671935	missense variant	-	NC_000014.9:g.95103729A>G	-
DICER1	Q9UPY3	p.Ser1224Asn	RCV000554774	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103725C>T	ClinVar
DICER1	Q9UPY3	p.Ser1224Asn	rs1555369495	missense variant	-	NC_000014.9:g.95103725C>T	-
DICER1	Q9UPY3	p.Tyr1225Ter	RCV000494286	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103721G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1225Ter	rs184830847	stop gained	-	NC_000014.9:g.95103721G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1225Cys	RCV000330036	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103722T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1225Cys	rs146584765	missense variant	-	NC_000014.9:g.95103722T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Lys	RCV000569335	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103720C>T	ClinVar
DICER1	Q9UPY3	p.Glu1226Ter	RCV000240916	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
DICER1	Q9UPY3	p.Glu1226Lys	RCV000464309	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>T	ClinVar
DICER1	Q9UPY3	p.del1226del	RCV000240916	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
DICER1	Q9UPY3	p.Glu1226Ala	RCV000823417	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103719T>G	ClinVar
DICER1	Q9UPY3	p.Glu1226Ter	rs748087536	stop gained	-	NC_000014.9:g.95103720C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Lys	rs748087536	missense variant	-	NC_000014.9:g.95103720C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Ala	rs779062746	missense variant	-	NC_000014.9:g.95103719T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1226Ala	RCV000561188	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103719T>G	ClinVar
DICER1	Q9UPY3	p.Asn1227Lys	RCV000533075	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103715G>T	ClinVar
DICER1	Q9UPY3	p.Asn1227Lys	rs750457254	missense variant	-	NC_000014.9:g.95103715G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1228Ter	RCV000761893	nonsense	-	NC_000014.9:g.95103714G>A	ClinVar
DICER1	Q9UPY3	p.Pro1229Arg	rs1370940293	missense variant	-	NC_000014.9:g.95103710G>C	gnomAD
DICER1	Q9UPY3	p.Gln1230Ter	RCV000699486	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103708G>A	ClinVar
DICER1	Q9UPY3	p.Ser1232Asn	RCV000469516	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103701C>T	ClinVar
DICER1	Q9UPY3	p.Ser1232Asn	rs1060503597	missense variant	-	NC_000014.9:g.95103701C>T	-
DICER1	Q9UPY3	p.Asp1233Asn	RCV000532307	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103699C>T	ClinVar
DICER1	Q9UPY3	p.Asp1233Asn	rs1454503348	missense variant	-	NC_000014.9:g.95103699C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1233Asn	RCV000564362	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103699C>T	ClinVar
DICER1	Q9UPY3	p.Cys1235Tyr	rs1464737401	missense variant	-	NC_000014.9:g.95103692C>T	TOPMed
DICER1	Q9UPY3	p.Leu1237Phe	rs757460313	missense variant	-	NC_000014.9:g.95103687G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1238Pro	RCV000472528	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103683A>G	ClinVar
DICER1	Q9UPY3	p.Leu1238Pro	rs1060503603	missense variant	-	NC_000014.9:g.95103683A>G	-
DICER1	Q9UPY3	p.Ser1239Gly	rs751765488	missense variant	-	NC_000014.9:g.95103681T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1241Arg	RCV000765195	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Lys1241Arg	RCV000567535	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Lys1241Arg	rs764415288	missense variant	-	NC_000014.9:g.95103674T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1241Arg	RCV000547038	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103674T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000493027	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000494497	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	RCV000240955	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103670G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1242Asp	rs1273768047	missense variant	-	NC_000014.9:g.95103672A>C	gnomAD
DICER1	Q9UPY3	p.Tyr1242Ter	rs886037708	stop gained	-	NC_000014.9:g.95103670G>T	gnomAD
DICER1	Q9UPY3	p.Tyr1242Asp	RCV000561586	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103672A>C	ClinVar
DICER1	Q9UPY3	p.Tyr1242Ter	rs886037708	stop gained	-	NC_000014.9:g.95103670G>C	gnomAD
DICER1	Q9UPY3	p.Leu1243Pro	RCV000562517	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103668A>G	ClinVar
DICER1	Q9UPY3	p.Leu1243Pro	RCV000556615	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103668A>G	ClinVar
DICER1	Q9UPY3	p.Leu1243Pro	rs561584807	missense variant	-	NC_000014.9:g.95103668A>G	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1244His	rs1250903139	missense variant	-	NC_000014.9:g.95103666C>G	gnomAD
DICER1	Q9UPY3	p.Lys1249Arg	rs527872690	missense variant	-	NC_000014.9:g.95103650T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1249Arg	RCV000459857	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103650T>C	ClinVar
DICER1	Q9UPY3	p.Gly1254Glu	rs1440770707	missense variant	-	NC_000014.9:g.95103635C>T	gnomAD
DICER1	Q9UPY3	p.Ser1255Thr	rs199526737	missense variant	-	NC_000014.9:g.95103632C>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val1257Leu	rs1392282413	missense variant	-	NC_000014.9:g.95103627C>A	gnomAD
DICER1	Q9UPY3	p.Met1258Thr	RCV000467810	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103623A>G	ClinVar
DICER1	Q9UPY3	p.Met1258Ile	rs1392589360	missense variant	-	NC_000014.9:g.95103622C>A	gnomAD
DICER1	Q9UPY3	p.Met1258Thr	rs144095207	missense variant	-	NC_000014.9:g.95103623A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1260Ile	RCV000463245	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103618C>T	ClinVar
DICER1	Q9UPY3	p.Val1260Ile	rs763425076	missense variant	-	NC_000014.9:g.95103618C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1260Ter	RCV000240892	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
DICER1	Q9UPY3	p.del1260del	RCV000240892	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
DICER1	Q9UPY3	p.Gly1263Ala	rs771990285	missense variant	-	NC_000014.9:g.95103608C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1263Asp	rs771990285	missense variant	-	NC_000014.9:g.95103608C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1264Met	RCV000569382	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103605G>A	ClinVar
DICER1	Q9UPY3	p.Thr1264Met	RCV000459272	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103605G>A	ClinVar
DICER1	Q9UPY3	p.Thr1264Met	rs139346443	missense variant	-	NC_000014.9:g.95103605G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1266His	RCV000459002	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103600C>G	ClinVar
DICER1	Q9UPY3	p.Asp1266Glu	RCV000699111	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103598G>C	ClinVar
DICER1	Q9UPY3	p.Asp1266Ala	rs368610812	missense variant	-	NC_000014.9:g.95103599T>G	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1266Glu	rs1183908844	missense variant	-	NC_000014.9:g.95103598G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1266His	rs1060503654	missense variant	-	NC_000014.9:g.95103600C>G	-
DICER1	Q9UPY3	p.Thr1267Ala	rs953855540	missense variant	-	NC_000014.9:g.95103597T>C	TOPMed
DICER1	Q9UPY3	p.Gln1269Glu	rs1277796753	missense variant	-	NC_000014.9:g.95103591G>C	TOPMed
DICER1	Q9UPY3	p.Val1270Met	RCV000700769	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103588C>T	ClinVar
DICER1	Q9UPY3	p.Leu1271Phe	RCV000702550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103585G>A	ClinVar
DICER1	Q9UPY3	p.Leu1271Phe	rs1249975103	missense variant	-	NC_000014.9:g.95103585G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1271Pro	rs1178292163	missense variant	-	NC_000014.9:g.95103584A>G	gnomAD
DICER1	Q9UPY3	p.Lys1272Arg	RCV000534087	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103581T>C	ClinVar
DICER1	Q9UPY3	p.Lys1272Asn	RCV000695971	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103580C>G	ClinVar
DICER1	Q9UPY3	p.Lys1272Arg	rs151197809	missense variant	-	NC_000014.9:g.95103581T>C	ESP,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1274Gly	rs142193936	missense variant	-	NC_000014.9:g.95103576T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1275Val	rs751764482	missense variant	-	NC_000014.9:g.95103573T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1275Val	RCV000561792	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103573T>C	ClinVar
DICER1	Q9UPY3	p.Met1275Val	RCV000225860	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103573T>C	ClinVar
DICER1	Q9UPY3	p.Met1275Ile	rs778033280	missense variant	-	NC_000014.9:g.95103571C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1276Gly	rs758636143	missense variant	-	NC_000014.9:g.95103569T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1276Gly	RCV000472875	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103569T>C	ClinVar
DICER1	Q9UPY3	p.Asp1276Glu	rs753013678	missense variant	-	NC_000014.9:g.95103568A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1280Cys	RCV000654464	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103558T>A	ClinVar
DICER1	Q9UPY3	p.Ser1280Cys	rs148696745	missense variant	-	NC_000014.9:g.95103558T>A	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1280Gly	rs148696745	missense variant	-	NC_000014.9:g.95103558T>C	ESP,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1281Leu	RCV000549005	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103554G>A	ClinVar
DICER1	Q9UPY3	p.Pro1281Leu	rs1306948597	missense variant	-	NC_000014.9:g.95103554G>A	gnomAD
DICER1	Q9UPY3	p.Ile1283Val	RCV000527104	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103549T>C	ClinVar
DICER1	Q9UPY3	p.Ile1283Val	RCV000576059	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103549T>C	ClinVar
DICER1	Q9UPY3	p.Ile1283Val	rs548255758	missense variant	-	NC_000014.9:g.95103549T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1283Thr	rs754352488	missense variant	-	NC_000014.9:g.95103548A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ile1283Thr	RCV000229624	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103548A>G	ClinVar
DICER1	Q9UPY3	p.Gly1284Ala	RCV000571006	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103545C>G	ClinVar
DICER1	Q9UPY3	p.Gly1284Ala	rs563395930	missense variant	-	NC_000014.9:g.95103545C>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1286Phe	RCV000699923	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103539G>A	ClinVar
DICER1	Q9UPY3	p.Ser1286Ala	rs111495226	missense variant	-	NC_000014.9:g.95103540A>C	TOPMed
DICER1	Q9UPY3	p.Ser1287Ala	rs373980178	missense variant	-	NC_000014.9:g.95103537A>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ser1287Leu	rs1263628434	missense variant	-	NC_000014.9:g.95103536G>A	gnomAD
DICER1	Q9UPY3	p.Leu1290Phe	RCV000456821	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103528G>A	ClinVar
DICER1	Q9UPY3	p.Leu1290Phe	rs1060503650	missense variant	-	NC_000014.9:g.95103528G>A	-
DICER1	Q9UPY3	p.del1292del	RCV000240929	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
DICER1	Q9UPY3	p.Pro1292Ter	RCV000240929	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
DICER1	Q9UPY3	p.Pro1292Thr	rs1415495347	missense variant	-	NC_000014.9:g.95103522G>T	TOPMed
DICER1	Q9UPY3	p.Asn1293Ser	RCV000575772	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103518T>C	ClinVar
DICER1	Q9UPY3	p.Asn1293Thr	rs772855134	missense variant	-	NC_000014.9:g.95103518T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1293Ser	rs772855134	missense variant	-	NC_000014.9:g.95103518T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1293Ser	RCV000537430	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518T>C	ClinVar
DICER1	Q9UPY3	p.Ile1297Thr	RCV000765194	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
DICER1	Q9UPY3	p.Ile1297Asn	rs761578934	missense variant	-	NC_000014.9:g.95103506A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1297Thr	rs761578934	missense variant	-	NC_000014.9:g.95103506A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1297Thr	RCV000654472	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
DICER1	Q9UPY3	p.Ala1300Asp	rs774248214	missense variant	-	NC_000014.9:g.95103497G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1300Thr	rs878855260	missense variant	-	NC_000014.9:g.95103498C>T	-
DICER1	Q9UPY3	p.Ala1300Thr	RCV000233539	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103498C>T	ClinVar
DICER1	Q9UPY3	p.Leu1301Ser	rs1363268262	missense variant	-	NC_000014.9:g.95103494A>G	gnomAD
DICER1	Q9UPY3	p.Leu1303Ter	RCV000056332	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103488_95103489AG[1]	ClinVar
DICER1	Q9UPY3	p.Leu1315Phe	RCV000691665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103453G>A	ClinVar
DICER1	Q9UPY3	p.Leu1315His	rs779909779	missense variant	-	NC_000014.9:g.95103452A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1315Pro	rs779909779	missense variant	-	NC_000014.9:g.95103452A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1316Ter	rs771037069	stop gained	-	NC_000014.9:g.95103450C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1318Phe	RCV000542192	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103444G>A	ClinVar
DICER1	Q9UPY3	p.Leu1318Phe	rs1555369315	missense variant	-	NC_000014.9:g.95103444G>A	-
DICER1	Q9UPY3	p.Asp1320Ter	RCV000697367	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103439dup	ClinVar
DICER1	Q9UPY3	p.Asp1320Ter	RCV000851463	frameshift	-	NC_000014.9:g.95103439dup	ClinVar
DICER1	Q9UPY3	p.Lys1324Ter	rs1273980412	stop gained	-	NC_000014.9:g.95103426T>A	TOPMed
DICER1	Q9UPY3	p.Thr1329Arg	RCV000232820	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103410G>C	ClinVar
DICER1	Q9UPY3	p.Thr1329Arg	rs878855261	missense variant	-	NC_000014.9:g.95103410G>C	-
DICER1	Q9UPY3	p.Tyr1330Ter	RCV000493021	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103406_95103407AT[1]	ClinVar
DICER1	Q9UPY3	p.Thr1334Ile	RCV000526668	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103395G>A	ClinVar
DICER1	Q9UPY3	p.Thr1334Ile	rs1555369296	missense variant	-	NC_000014.9:g.95103395G>A	-
DICER1	Q9UPY3	p.Tyr1335Ter	RCV000227857	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103392dup	ClinVar
DICER1	Q9UPY3	p.Tyr1335Ter	rs878855262	stop gained	-	NC_000014.9:g.95103392dup	-
DICER1	Q9UPY3	p.Tyr1335Ter	rs755357184	stop gained	-	NC_000014.9:g.95103391G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1338Val	RCV000556120	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103383G>A	ClinVar
DICER1	Q9UPY3	p.Ala1338Val	rs766732310	missense variant	-	NC_000014.9:g.95103383G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1342Cys	RCV000477127	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103372G>A	ClinVar
DICER1	Q9UPY3	p.Arg1342Cys	rs776854466	missense variant	-	NC_000014.9:g.95103372G>A	TOPMed
DICER1	Q9UPY3	p.Arg1342His	rs767166092	missense variant	-	NC_000014.9:g.95103371C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1344Ter	RCV000707071	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103365G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1345Ter	rs1323719137	stop gained	-	NC_000014.9:g.95103361A>T	gnomAD
DICER1	Q9UPY3	p.Met1346Val	RCV000691934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103360T>C	ClinVar
DICER1	Q9UPY3	p.Met1346Lys	rs1398853735	missense variant	-	NC_000014.9:g.95103359A>T	gnomAD
DICER1	Q9UPY3	p.Met1346Val	rs1455097358	missense variant	-	NC_000014.9:g.95103360T>C	TOPMed
DICER1	Q9UPY3	p.Met1346Ile	rs1387749836	missense variant	-	NC_000014.9:g.95103358C>T	gnomAD
DICER1	Q9UPY3	p.Arg1347Lys	rs1165606053	missense variant	-	NC_000014.9:g.95103356C>T	gnomAD
DICER1	Q9UPY3	p.Ser1348Ter	RCV000494261	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103352del	ClinVar
DICER1	Q9UPY3	p.Ser1348Asn	rs1476191950	missense variant	-	NC_000014.9:g.95103353C>T	gnomAD
DICER1	Q9UPY3	p.Ser1348Arg	rs1415791238	missense variant	-	NC_000014.9:g.95103352G>T	gnomAD
DICER1	Q9UPY3	p.Lys1350Thr	RCV000569667	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103347T>G	ClinVar
DICER1	Q9UPY3	p.Lys1350Thr	rs1555369270	missense variant	-	NC_000014.9:g.95103347T>G	-
DICER1	Q9UPY3	p.Cys1354Ser	RCV000530034	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099926A>T	ClinVar
DICER1	Q9UPY3	p.Cys1354Ser	rs749559682	missense variant	-	NC_000014.9:g.95099926A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1358Cys	RCV000575051	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099914G>A	ClinVar
DICER1	Q9UPY3	p.Arg1358Ter	RCV000493217	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099915dup	ClinVar
DICER1	Q9UPY3	p.Arg1358His	RCV000469750	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099913C>T	ClinVar
DICER1	Q9UPY3	p.Arg1358Cys	rs1185001854	missense variant	-	NC_000014.9:g.95099914G>A	gnomAD
DICER1	Q9UPY3	p.Arg1358His	rs780488568	missense variant	-	NC_000014.9:g.95099913C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1361Arg	RCV000654429	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099904T>C	ClinVar
DICER1	Q9UPY3	p.Lys1361Arg	rs1555368619	missense variant	-	NC_000014.9:g.95099904T>C	-
DICER1	Q9UPY3	p.Lys1363Ter	RCV000493819	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099906dup	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	RCV000542831	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099895C>G	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	RCV000569409	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099895C>G	ClinVar
DICER1	Q9UPY3	p.Gly1364Ala	rs1467554488	missense variant	-	NC_000014.9:g.95099895C>G	gnomAD
DICER1	Q9UPY3	p.Gly1364Arg	rs1196046363	missense variant	-	NC_000014.9:g.95099896C>T	gnomAD
DICER1	Q9UPY3	p.Leu1365Ile	RCV000573313	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099893G>T	ClinVar
DICER1	Q9UPY3	p.Leu1365Ile	rs1250570322	missense variant	-	NC_000014.9:g.95099893G>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1365Ile	RCV000557954	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099893G>T	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	RCV000230621	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099884G>A	ClinVar
DICER1	Q9UPY3	p.Arg1368Cys	RCV000574570	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099884G>A	ClinVar
DICER1	Q9UPY3	p.Arg1368His	RCV000654419	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099883C>T	ClinVar
DICER1	Q9UPY3	p.Arg1368Leu	rs767112987	missense variant	-	NC_000014.9:g.95099883C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1368Cys	rs752740048	missense variant	-	NC_000014.9:g.95099884G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1368His	rs767112987	missense variant	-	NC_000014.9:g.95099883C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1371Met	rs1276560984	missense variant	-	NC_000014.9:g.95099875C>T	TOPMed
DICER1	Q9UPY3	p.Pro1377Ter	RCV000494426	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099860del	ClinVar
DICER1	Q9UPY3	p.Pro1377Ter	RCV000464109	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099860del	ClinVar
DICER1	Q9UPY3	p.Pro1377Ala	rs888888762	missense variant	-	NC_000014.9:g.95099857G>C	TOPMed
DICER1	Q9UPY3	p.Asn1379Tyr	RCV000654410	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099851T>A	ClinVar
DICER1	Q9UPY3	p.Asn1379Tyr	rs1555368579	missense variant	-	NC_000014.9:g.95099851T>A	-
DICER1	Q9UPY3	p.Trp1380Ter	RCV000851415	nonsense	-	NC_000014.9:g.95099846C>T	ClinVar
DICER1	Q9UPY3	p.Trp1380Ter	rs1131691205	stop gained	-	NC_000014.9:g.95099846C>T	-
DICER1	Q9UPY3	p.Pro1382Ser	RCV000701333	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099842G>A	ClinVar
DICER1	Q9UPY3	p.Gly1384Val	RCV000469100	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099835C>A	ClinVar
DICER1	Q9UPY3	p.Gly1384Val	rs1060503664	missense variant	-	NC_000014.9:g.95099835C>A	gnomAD
DICER1	Q9UPY3	p.Gly1384Ala	rs1060503664	missense variant	-	NC_000014.9:g.95099835C>G	gnomAD
DICER1	Q9UPY3	p.Val1386Ile	rs1199615826	missense variant	-	NC_000014.9:g.95099830C>T	TOPMed
DICER1	Q9UPY3	p.Asn1388Asp	RCV000562141	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099824T>C	ClinVar
DICER1	Q9UPY3	p.Asn1388Asp	rs1555368569	missense variant	-	NC_000014.9:g.95099824T>C	-
DICER1	Q9UPY3	p.Ser1392Asn	RCV000654461	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099811C>T	ClinVar
DICER1	Q9UPY3	p.Ser1392Asn	rs751216539	missense variant	-	NC_000014.9:g.95099811C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1392Thr	rs751216539	missense variant	-	NC_000014.9:g.95099811C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1392Arg	rs1425420979	missense variant	-	NC_000014.9:g.95099810G>C	TOPMed
DICER1	Q9UPY3	p.Thr1394Ala	rs763583825	missense variant	-	NC_000014.9:g.95099806T>C	ExAC,TOPMed
DICER1	Q9UPY3	p.Trp1397Ter	RCV000240865	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099796C>T	ClinVar
DICER1	Q9UPY3	p.Trp1397Ter	RCV000493645	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099796C>T	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000486377	missense variant	-	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000575344	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	RCV000227035	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099797A>G	ClinVar
DICER1	Q9UPY3	p.Trp1397Arg	rs762677393	missense variant	-	NC_000014.9:g.95099797A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Trp1397Ter	rs886037711	stop gained	-	NC_000014.9:g.95099796C>T	-
DICER1	Q9UPY3	p.Asp1400Gly	RCV000851469	missense variant	-	NC_000014.9:g.95099787T>C	ClinVar
DICER1	Q9UPY3	p.Asp1400Gly	RCV000464861	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099787T>C	ClinVar
DICER1	Q9UPY3	p.Asp1400Glu	RCV000654394	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099786A>T	ClinVar
DICER1	Q9UPY3	p.Asp1400Glu	rs941973586	missense variant	-	NC_000014.9:g.95099786A>T	gnomAD
DICER1	Q9UPY3	p.Asp1400Gly	rs139536688	missense variant	-	NC_000014.9:g.95099787T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1401Lys	RCV000703015	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099785C>T	ClinVar
DICER1	Q9UPY3	p.Met1402Ile	RCV000539126	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099780C>T	ClinVar
DICER1	Q9UPY3	p.Met1402Val	rs1356366359	missense variant	-	NC_000014.9:g.95099782T>C	gnomAD
DICER1	Q9UPY3	p.Met1402Ile	rs866519895	missense variant	-	NC_000014.9:g.95099780C>T	gnomAD
DICER1	Q9UPY3	p.Met1402Ile	rs866519895	missense variant	-	NC_000014.9:g.95099780C>A	gnomAD
DICER1	Q9UPY3	p.Thr1403Ser	rs147391538	missense variant	-	NC_000014.9:g.95096713T>A	ESP,ExAC,TOPMed
DICER1	Q9UPY3	p.Asp1405Glu	RCV000574723	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096705G>C	ClinVar
DICER1	Q9UPY3	p.Asp1405Glu	RCV000800950	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096705G>C	ClinVar
DICER1	Q9UPY3	p.Asp1405Ter	RCV000654428	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096711del	ClinVar
DICER1	Q9UPY3	p.Asp1405Glu	rs1555367924	missense variant	-	NC_000014.9:g.95096705G>C	-
DICER1	Q9UPY3	p.Cys1406Phe	rs1295287147	missense variant	-	NC_000014.9:g.95096703C>A	gnomAD
DICER1	Q9UPY3	p.Cys1406Phe	RCV000574324	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096703C>A	ClinVar
DICER1	Q9UPY3	p.Cys1406Arg	rs1356179383	missense variant	-	NC_000014.9:g.95096704A>G	gnomAD
DICER1	Q9UPY3	p.Met1407Arg	RCV000541658	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096700A>C	ClinVar
DICER1	Q9UPY3	p.Met1407Ile	RCV000462665	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096699C>A	ClinVar
DICER1	Q9UPY3	p.Met1407Arg	RCV000561317	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096700A>C	ClinVar
DICER1	Q9UPY3	p.Met1407Ile	rs1060503589	missense variant	-	NC_000014.9:g.95096699C>A	-
DICER1	Q9UPY3	p.Met1407Leu	rs759394379	missense variant	-	NC_000014.9:g.95096701T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1407Val	rs759394379	missense variant	-	NC_000014.9:g.95096701T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1407Arg	rs1555367920	missense variant	-	NC_000014.9:g.95096700A>C	-
DICER1	Q9UPY3	p.Ala1409Thr	rs1004274014	missense variant	-	NC_000014.9:g.95096695C>T	TOPMed
DICER1	Q9UPY3	p.Ala1409Val	rs776416084	missense variant	-	NC_000014.9:g.95096694G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1409Glu	rs776416084	missense variant	-	NC_000014.9:g.95096694G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1409Gly	rs776416084	missense variant	-	NC_000014.9:g.95096694G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1415Gly	rs1343899610	missense variant	-	NC_000014.9:g.95096676T>C	gnomAD
DICER1	Q9UPY3	p.Tyr1417Phe	rs768820364	missense variant	-	NC_000014.9:g.95096670T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1418Lys	rs1421729263	missense variant	-	NC_000014.9:g.95096668C>T	gnomAD
DICER1	Q9UPY3	p.Glu1419Gln	rs775839852	missense variant	-	NC_000014.9:g.95096665C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1419Val	rs770273518	missense variant	-	NC_000014.9:g.95096664T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1419Asp	rs1486741089	missense variant	-	NC_000014.9:g.95096663C>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Asp1421Glu	RCV000567188	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096657A>C	ClinVar
DICER1	Q9UPY3	p.Asp1421Glu	rs1219156713	missense variant	-	NC_000014.9:g.95096657A>C	TOPMed
DICER1	Q9UPY3	p.Glu1422Ter	RCV000493195	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096656dup	ClinVar
DICER1	Q9UPY3	p.Glu1422Asp	rs746164022	missense variant	-	NC_000014.9:g.95096654C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1422Asp	rs746164022	missense variant	-	NC_000014.9:g.95096654C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1422Asp	RCV000555614	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096654C>A	ClinVar
DICER1	Q9UPY3	p.Ser1426Asn	RCV000462711	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096643C>T	ClinVar
DICER1	Q9UPY3	p.Ser1426Asn	rs1060503648	missense variant	-	NC_000014.9:g.95096643C>T	gnomAD
DICER1	Q9UPY3	p.Met1428Lys	RCV000562615	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096637A>T	ClinVar
DICER1	Q9UPY3	p.Met1428Lys	RCV000459122	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096637A>T	ClinVar
DICER1	Q9UPY3	p.Met1428Lys	rs996633792	missense variant	-	NC_000014.9:g.95096637A>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Trp1429Ter	RCV000492934	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096635del	ClinVar
DICER1	Q9UPY3	p.Arg1430Gly	RCV000545818	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096632T>C	ClinVar
DICER1	Q9UPY3	p.Arg1430Gly	rs771513798	missense variant	-	NC_000014.9:g.95096632T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1431Pro	rs1256249012	missense variant	-	NC_000014.9:g.95096629C>G	TOPMed
DICER1	Q9UPY3	p.Pro1432Ala	RCV000566953	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096626G>C	ClinVar
DICER1	Q9UPY3	p.Pro1432Leu	RCV000560637	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096625G>A	ClinVar
DICER1	Q9UPY3	p.Pro1432Leu	rs747593690	missense variant	-	NC_000014.9:g.95096625G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1432Ala	rs1555367862	missense variant	-	NC_000014.9:g.95096626G>C	-
DICER1	Q9UPY3	p.Glu1435Asp	RCV000698151	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096615C>A	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	RCV000563455	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096613G>T	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	RCV000476530	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096613G>T	ClinVar
DICER1	Q9UPY3	p.Ala1436Asp	rs777127946	missense variant	-	NC_000014.9:g.95096613G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1436Ser	rs1360320875	missense variant	-	NC_000014.9:g.95096614C>A	gnomAD
DICER1	Q9UPY3	p.Asp1437Ter	RCV000240895	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Asp1437Ter	RCV000851471	frameshift	-	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Asp1437Ter	RCV000493485	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096610_95096613del	ClinVar
DICER1	Q9UPY3	p.Tyr1438Asn	RCV000228106	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096608A>T	ClinVar
DICER1	Q9UPY3	p.Tyr1438Asn	rs878855264	missense variant	-	NC_000014.9:g.95096608A>T	-
DICER1	Q9UPY3	p.Tyr1438Cys	rs1202589148	missense variant	-	NC_000014.9:g.95096607T>C	TOPMed
DICER1	Q9UPY3	p.Glu1439Asp	rs1394532756	missense variant	-	NC_000014.9:g.95096603T>G	gnomAD
DICER1	Q9UPY3	p.Asp1441Tyr	rs752291344	missense variant	-	NC_000014.9:g.95096599C>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1444Lys	rs1455952908	missense variant	-	NC_000014.9:g.95096590C>T	gnomAD
DICER1	Q9UPY3	p.Glu1444Asp	rs1367487931	missense variant	-	NC_000014.9:g.95096588C>G	gnomAD
DICER1	Q9UPY3	p.Asp1446Asn	rs899635943	missense variant	-	NC_000014.9:g.95096584C>T	TOPMed
DICER1	Q9UPY3	p.Ile1450Leu	rs1430019327	missense variant	-	NC_000014.9:g.95096572T>G	gnomAD
DICER1	Q9UPY3	p.Ile1453Val	rs1040361162	missense variant	-	NC_000014.9:g.95096563T>C	gnomAD
DICER1	Q9UPY3	p.Asn1455Asp	RCV000687068	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096557T>C	ClinVar
DICER1	Q9UPY3	p.Asn1455Thr	RCV000231875	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096556T>G	ClinVar
DICER1	Q9UPY3	p.Asn1455Thr	rs878855265	missense variant	-	NC_000014.9:g.95096556T>G	-
DICER1	Q9UPY3	p.Met1456Ile	rs1187851945	missense variant	-	NC_000014.9:g.95096552C>T	gnomAD
DICER1	Q9UPY3	p.Met1458Ile	rs1488281692	missense variant	-	NC_000014.9:g.95096546C>A	TOPMed
DICER1	Q9UPY3	p.Gly1459Glu	RCV000654407	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096544C>T	ClinVar
DICER1	Q9UPY3	p.Gly1459Glu	rs1043584252	missense variant	-	NC_000014.9:g.95096544C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1462Val	RCV000654437	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096535G>A	ClinVar
DICER1	Q9UPY3	p.Ala1462Val	rs1555367829	missense variant	-	NC_000014.9:g.95096535G>A	-
DICER1	Q9UPY3	p.Val1464Leu	RCV000700566	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096530C>A	ClinVar
DICER1	Q9UPY3	p.Val1464Ile	rs1208091143	missense variant	-	NC_000014.9:g.95096530C>T	gnomAD
DICER1	Q9UPY3	p.Ser1468Cys	RCV000694811	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096517G>C	ClinVar
DICER1	Q9UPY3	p.Ser1468Cys	RCV000561994	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096517G>C	ClinVar
DICER1	Q9UPY3	p.Ser1468Cys	rs753582860	missense variant	-	NC_000014.9:g.95096517G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1468Phe	rs753582860	missense variant	-	NC_000014.9:g.95096517G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1469Pro	RCV000544557	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096514A>G	ClinVar
DICER1	Q9UPY3	p.Leu1469Pro	RCV000561747	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096514A>G	ClinVar
DICER1	Q9UPY3	p.Leu1469Ter	RCV000654427	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
DICER1	Q9UPY3	p.Leu1469Ter	RCV000478954	frameshift	-	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
DICER1	Q9UPY3	p.Leu1469Ile	RCV000476492	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515G>T	ClinVar
DICER1	Q9UPY3	p.Leu1469Ile	rs766194200	missense variant	-	NC_000014.9:g.95096515G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1469Pro	rs200890670	missense variant	-	NC_000014.9:g.95096514A>G	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1470Ter	RCV000240868	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Ser1470Ter	RCV000494649	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Ser1470Ter	RCV000211112	frameshift	Pineoblastoma	NC_000014.9:g.95096513_95096516del	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	RCV000468028	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096508G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Leu	RCV000561516	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096508G>A	ClinVar
DICER1	Q9UPY3	p.del1471del	RCV000240930	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Pro1471Ter	RCV000240930	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Pro1471Ser	RCV000654406	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096509G>A	ClinVar
DICER1	Q9UPY3	p.Pro1471Ser	rs764066711	missense variant	-	NC_000014.9:g.95096509G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1471Leu	rs1060503657	missense variant	-	NC_000014.9:g.95096508G>A	-
DICER1	Q9UPY3	p.Pro1471Ter	RCV000492956	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.del1471del	RCV000492956	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
DICER1	Q9UPY3	p.Phe1472Val	rs763155602	missense variant	-	NC_000014.9:g.95096506A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1472Leu	rs763155602	missense variant	-	NC_000014.9:g.95096506A>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1475Ala	rs150883389	missense variant	-	NC_000014.9:g.95096497T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1475Ala	RCV000538120	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096497T>C	ClinVar
DICER1	Q9UPY3	p.Asp1476Ter	RCV000240907	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096493_95096494insA	ClinVar
DICER1	Q9UPY3	p.Asp1476Tyr	rs759857552	missense variant	-	NC_000014.9:g.95096494C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1477Phe	rs1463264407	missense variant	-	NC_000014.9:g.95096490G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1477Phe	RCV000548183	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096490G>A	ClinVar
DICER1	Q9UPY3	p.Ala1478Val	rs771378631	missense variant	-	NC_000014.9:g.95096487G>A	ExAC
DICER1	Q9UPY3	p.Tyr1479Cys	RCV000558444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096484T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1479Cys	rs1218181729	missense variant	-	NC_000014.9:g.95096484T>C	TOPMed
DICER1	Q9UPY3	p.Trp1481Arg	rs778414751	missense variant	-	NC_000014.9:g.95096479A>G	ExAC
DICER1	Q9UPY3	p.Met1483Ile	RCV000699832	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096471C>T	ClinVar
DICER1	Q9UPY3	p.Met1483Ile	RCV000765193	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096471C>T	ClinVar
DICER1	Q9UPY3	p.Met1483Ile	rs1454569806	missense variant	-	NC_000014.9:g.95096471C>T	gnomAD
DICER1	Q9UPY3	p.Pro1484Thr	rs1184743227	missense variant	-	NC_000014.9:g.95096470G>T	gnomAD
DICER1	Q9UPY3	p.Lys1485Gln	rs772462662	missense variant	-	NC_000014.9:g.95096467T>G	ExAC
DICER1	Q9UPY3	p.Ser1487Ter	RCV000493389	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1487Ter	RCV000811512	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1487Ter	RCV000657269	frameshift	-	NC_000014.9:g.95096467dup	ClinVar
DICER1	Q9UPY3	p.Ser1491Ile	rs878855267	missense variant	-	NC_000014.9:g.95096448C>A	-
DICER1	Q9UPY3	p.Ser1491Ile	RCV000229691	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096448C>A	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000765192	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000654444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Thr	RCV000561694	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096445A>G	ClinVar
DICER1	Q9UPY3	p.Met1492Ile	rs1186397655	missense variant	-	NC_000014.9:g.95096444C>T	gnomAD
DICER1	Q9UPY3	p.Met1492Val	rs756830706	missense variant	-	NC_000014.9:g.95096446T>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1492Thr	rs370947079	missense variant	-	NC_000014.9:g.95096445A>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1492Val	RCV000536096	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096446T>C	ClinVar
DICER1	Q9UPY3	p.Met1492Val	RCV000562003	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096446T>C	ClinVar
DICER1	Q9UPY3	p.Ser1495Leu	rs753527258	missense variant	-	NC_000014.9:g.95096436G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1495Pro	rs767679076	missense variant	-	NC_000014.9:g.95096437A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1495Leu	RCV000550982	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096436G>A	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	RCV000566167	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096431C>T	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	RCV000232473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096431C>T	ClinVar
DICER1	Q9UPY3	p.Asp1497Asn	rs878855268	missense variant	-	NC_000014.9:g.95096431C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1498Leu	rs779801642	missense variant	-	NC_000014.9:g.95096426A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1499Gln	rs1350503269	missense variant	-	NC_000014.9:g.95096425C>G	gnomAD
DICER1	Q9UPY3	p.Asp1502Asn	RCV000570957	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096416C>T	ClinVar
DICER1	Q9UPY3	p.Asp1502Asn	RCV000808428	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096416C>T	ClinVar
DICER1	Q9UPY3	p.Asp1502Asn	rs1273522896	missense variant	-	NC_000014.9:g.95096416C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1504Ter	RCV000240947	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
DICER1	Q9UPY3	p.del1504del	RCV000240947	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
DICER1	Q9UPY3	p.Ser1505Pro	rs1329994791	missense variant	-	NC_000014.9:g.95096407A>G	gnomAD
DICER1	Q9UPY3	p.Trp1506Ter	RCV000240870	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096403C>T	ClinVar
DICER1	Q9UPY3	p.Trp1506Ter	rs886037716	stop gained	-	NC_000014.9:g.95096403C>T	TOPMed
DICER1	Q9UPY3	p.Trp1506Ter	RCV000493299	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096403C>T	ClinVar
DICER1	Q9UPY3	p.Tyr1511Ter	RCV000494424	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096387A>T	ClinVar
DICER1	Q9UPY3	p.Tyr1511Ter	rs1131691206	stop gained	-	NC_000014.9:g.95096387A>T	gnomAD
DICER1	Q9UPY3	p.Asp1513Tyr	rs1316786303	missense variant	-	NC_000014.9:g.95096383C>A	gnomAD
DICER1	Q9UPY3	p.Ser1515Asn	rs761666375	missense variant	-	NC_000014.9:g.95096376C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1519Val	RCV000457105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096364T>A	ClinVar
DICER1	Q9UPY3	p.Glu1519Ter	RCV000493125	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096365del	ClinVar
DICER1	Q9UPY3	p.Glu1519Val	rs1060503622	missense variant	-	NC_000014.9:g.95096364T>A	-
DICER1	Q9UPY3	p.Glu1520Gln	rs1170730150	missense variant	-	NC_000014.9:g.95096362C>G	gnomAD
DICER1	Q9UPY3	p.Asp1521Gly	rs1434924094	missense variant	-	NC_000014.9:g.95096358T>C	TOPMed
DICER1	Q9UPY3	p.Asp1522Glu	rs1364431792	missense variant	-	NC_000014.9:g.95096354G>C	gnomAD
DICER1	Q9UPY3	p.Glu1533Asp	rs777054659	missense variant	-	NC_000014.9:g.95096321T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys1535Ter	RCV000851419	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000851419	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Tyr	rs1211879881	missense variant	-	NC_000014.9:g.95096316C>T	gnomAD
DICER1	Q9UPY3	p.Cys1535Ter	RCV000240909	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000240909	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Cys1535Ter	RCV000494288	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.del1535del	RCV000494288	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
DICER1	Q9UPY3	p.Gly1536Asp	rs1486849070	missense variant	-	NC_000014.9:g.95096313C>T	gnomAD
DICER1	Q9UPY3	p.Val1537Ile	rs766652674	missense variant	-	NC_000014.9:g.95096311C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1538Glu	rs761038319	missense variant	-	NC_000014.9:g.95096306G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Thr1539Met	RCV000494503	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096304G>A	ClinVar
DICER1	Q9UPY3	p.Thr1539Met	RCV000232937	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>A	ClinVar
DICER1	Q9UPY3	p.Thr1539Lys	RCV000471006	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>T	ClinVar
DICER1	Q9UPY3	p.Thr1539Lys	rs747901058	missense variant	-	NC_000014.9:g.95096304G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Thr1539Met	rs747901058	missense variant	-	NC_000014.9:g.95096304G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.del1541del	RCV000240950	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.Lys1541Ter	RCV000240950	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.del1541del	RCV000493604	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.Lys1541Ter	RCV000493604	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
DICER1	Q9UPY3	p.Lys1541Ter	rs886037718	stop gained	-	NC_000014.9:g.95096299T>A	-
DICER1	Q9UPY3	p.Gln1542Ter	RCV000240874	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096294del	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	RCV000823820	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096290T>C	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	RCV000569957	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096290T>C	ClinVar
DICER1	Q9UPY3	p.Ile1544Val	rs1555367720	missense variant	-	NC_000014.9:g.95096290T>C	-
DICER1	Q9UPY3	p.Ile1544Asn	rs541733582	missense variant	-	NC_000014.9:g.95096289A>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1545Ter	RCV000211108	frameshift	Pineoblastoma	NC_000014.9:g.95096289dup	ClinVar
DICER1	Q9UPY3	p.Ser1545Ter	RCV000851420	frameshift	-	NC_000014.9:g.95096289dup	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	RCV000494101	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096283dup	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	RCV000539434	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096282G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1546Ter	rs1131691221	stop gained	-	NC_000014.9:g.95096283dup	-
DICER1	Q9UPY3	p.Tyr1546Ter	rs773822569	stop gained	-	NC_000014.9:g.95096282G>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1548Phe	RCV000476197	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096276C>G	ClinVar
DICER1	Q9UPY3	p.Leu1548Phe	rs1060503619	missense variant	-	NC_000014.9:g.95096276C>G	-
DICER1	Q9UPY3	p.Thr1550Ser	rs1435663556	missense variant	-	NC_000014.9:g.95096271G>C	TOPMed
DICER1	Q9UPY3	p.Gln1552Ter	RCV000851421	nonsense	-	NC_000014.9:g.95096266G>A	ClinVar
DICER1	Q9UPY3	p.Gln1552Ter	rs1131691208	stop gained	-	NC_000014.9:g.95096266G>A	-
DICER1	Q9UPY3	p.Cys1553Ter	RCV000494085	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096263dup	ClinVar
DICER1	Q9UPY3	p.Ser1558Thr	rs779823153	missense variant	-	NC_000014.9:g.95096247C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1559Arg	RCV000570672	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096244A>C	ClinVar
DICER1	Q9UPY3	p.Ile1559Val	rs377409989	missense variant	-	NC_000014.9:g.95096245T>C	ESP,TOPMed
DICER1	Q9UPY3	p.Ile1559Met	rs755726950	missense variant	-	NC_000014.9:g.95096243T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1559Arg	rs1555367694	missense variant	-	NC_000014.9:g.95096244A>C	-
DICER1	Q9UPY3	p.Tyr1570Cys	rs765396989	missense variant	-	NC_000014.9:g.95096211T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1570Phe	rs765396989	missense variant	-	NC_000014.9:g.95096211T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Tyr1570Cys	RCV000233254	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096211T>C	ClinVar
DICER1	Q9UPY3	p.Ser1573Thr	RCV000553405	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096202C>G	ClinVar
DICER1	Q9UPY3	p.Ser1573Thr	rs1555367674	missense variant	-	NC_000014.9:g.95096202C>G	-
DICER1	Q9UPY3	p.Cys1574Ser	rs1236067722	missense variant	-	NC_000014.9:g.95096199C>G	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1575Arg	RCV000461106	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096197C>G	ClinVar
DICER1	Q9UPY3	p.Gly1575Arg	rs1060503609	missense variant	-	NC_000014.9:g.95096197C>G	-
DICER1	Q9UPY3	p.Glu1576Asp	rs753976236	missense variant	-	NC_000014.9:g.95096192C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1577Lys	rs1447972626	missense variant	-	NC_000014.9:g.95096190C>T	gnomAD
DICER1	Q9UPY3	p.Ala1578Thr	rs760830088	missense variant	-	NC_000014.9:g.95096188C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Ala1579Val	rs1466171960	missense variant	-	NC_000014.9:g.95096184G>A	gnomAD
DICER1	Q9UPY3	p.Gln1580His	RCV000574285	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096180C>A	ClinVar
DICER1	Q9UPY3	p.Gln1580His	RCV000468344	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096180C>A	ClinVar
DICER1	Q9UPY3	p.Gln1580His	rs369465519	missense variant	-	NC_000014.9:g.95096180C>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1583Arg	RCV000004725	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	ClinVar
DICER1	Q9UPY3	p.Leu1583Arg	RCV000240912	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096172A>C	ClinVar
DICER1	Q9UPY3	p.Leu1583Arg	rs137852976	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt,dbSNP
DICER1	Q9UPY3	p.Leu1583Arg	VAR_063150	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt
DICER1	Q9UPY3	p.Leu1583Arg	rs137852976	missense variant	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95096172A>C	-
DICER1	Q9UPY3	p.Ser1585Ter	RCV000240939	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096166G>C	ClinVar
DICER1	Q9UPY3	p.Ser1585Ter	RCV000211120	nonsense	Pineoblastoma	NC_000014.9:g.95096166G>C	ClinVar
DICER1	Q9UPY3	p.Ser1585Ter	rs875989779	stop gained	-	NC_000014.9:g.95096166G>C	-
DICER1	Q9UPY3	p.Gly1587Ter	RCV000691984	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096158del	ClinVar
DICER1	Q9UPY3	p.Gly1587Val	rs1237854658	missense variant	-	NC_000014.9:g.95096160C>A	TOPMed
DICER1	Q9UPY3	p.Gly1587Glu	rs1237854658	missense variant	-	NC_000014.9:g.95096160C>T	TOPMed
DICER1	Q9UPY3	p.Lys1589Met	rs768146959	missense variant	-	NC_000014.9:g.95096154T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1591Phe	rs1446931608	missense variant	-	NC_000014.9:g.95096149G>A	gnomAD
DICER1	Q9UPY3	p.Val1593Leu	RCV000472687	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096143C>G	ClinVar
DICER1	Q9UPY3	p.Val1593Leu	rs1060503644	missense variant	-	NC_000014.9:g.95096143C>G	gnomAD
DICER1	Q9UPY3	p.Thr1597Asn	rs1387955483	missense variant	-	NC_000014.9:g.95096130G>T	gnomAD
DICER1	Q9UPY3	p.Asp1598Asn	rs757177980	missense variant	-	NC_000014.9:g.95096128C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1599Gln	RCV000457830	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>T	ClinVar
DICER1	Q9UPY3	p.Arg1599Gly	RCV000562129	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096125G>C	ClinVar
DICER1	Q9UPY3	p.Arg1599Trp	RCV000809626	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>A	ClinVar
DICER1	Q9UPY3	p.Arg1599Gly	RCV000532384	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>C	ClinVar
DICER1	Q9UPY3	p.Arg1599Gly	rs587778230	missense variant	-	NC_000014.9:g.95096125G>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Trp	rs587778230	missense variant	-	NC_000014.9:g.95096125G>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Leu	rs569615549	missense variant	-	NC_000014.9:g.95096124C>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1599Leu	RCV000547257	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>A	ClinVar
DICER1	Q9UPY3	p.Arg1599Gln	rs569615549	missense variant	-	NC_000014.9:g.95096124C>T	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1601Met	RCV000401929	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096118T>A	ClinVar
DICER1	Q9UPY3	p.Lys1601Met	rs181018393	missense variant	-	NC_000014.9:g.95096118T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1602Gly	RCV000654386	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096115G>C	ClinVar
DICER1	Q9UPY3	p.Ala1602Gly	RCV000569711	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096115G>C	ClinVar
DICER1	Q9UPY3	p.Ala1602Thr	rs145669719	missense variant	-	NC_000014.9:g.95096116C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1602Thr	RCV000457948	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096116C>T	ClinVar
DICER1	Q9UPY3	p.Ala1602Thr	RCV000561152	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096116C>T	ClinVar
DICER1	Q9UPY3	p.Ala1602Gly	rs148955573	missense variant	-	NC_000014.9:g.95096115G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1603Pro	rs1464874776	missense variant	-	NC_000014.9:g.95096112A>G	gnomAD
DICER1	Q9UPY3	p.Cys1604Ter	RCV000492888	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096108G>T	ClinVar
DICER1	Q9UPY3	p.Cys1604Ter	rs1131691201	stop gained	-	NC_000014.9:g.95096108G>T	-
DICER1	Q9UPY3	p.Cys1604Phe	rs1254200271	missense variant	-	NC_000014.9:g.95096109C>A	gnomAD
DICER1	Q9UPY3	p.Pro1605Arg	rs939314926	missense variant	-	NC_000014.9:g.95096106G>C	TOPMed
DICER1	Q9UPY3	p.Thr1606Ala	rs767907056	missense variant	-	NC_000014.9:g.95096104T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1607Gln	RCV000465086	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096100C>T	ClinVar
DICER1	Q9UPY3	p.Arg1607Gln	RCV000570497	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096100C>T	ClinVar
DICER1	Q9UPY3	p.Arg1607Trp	RCV000335071	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096101G>A	ClinVar
DICER1	Q9UPY3	p.Arg1607Trp	rs189119295	missense variant	-	NC_000014.9:g.95096101G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1607Gln	rs368963384	missense variant	-	NC_000014.9:g.95096100C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1609Ser	RCV000552752	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096094T>C	ClinVar
DICER1	Q9UPY3	p.Asn1609Ser	rs1228069910	missense variant	-	NC_000014.9:g.95096094T>C	TOPMed
DICER1	Q9UPY3	p.Phe1610Leu	rs1314094025	missense variant	-	NC_000014.9:g.95096090G>C	TOPMed
DICER1	Q9UPY3	p.Asn1611Ser	rs763472931	missense variant	-	NC_000014.9:g.95096088T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1611Thr	rs763472931	missense variant	-	NC_000014.9:g.95096088T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1613Leu	rs775024028	missense variant	-	NC_000014.9:g.95096082T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1613Leu	RCV000575624	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096082T>A	ClinVar
DICER1	Q9UPY3	p.Gln1613Arg	rs775024028	missense variant	-	NC_000014.9:g.95096082T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1614Arg	RCV000531188	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096079T>C	ClinVar
DICER1	Q9UPY3	p.Gln1614Leu	rs769225805	missense variant	-	NC_000014.9:g.95096079T>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Gln1614Arg	rs769225805	missense variant	-	NC_000014.9:g.95096079T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1616Ser	RCV000545218	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096073T>C	ClinVar
DICER1	Q9UPY3	p.Asn1616Ser	rs1257498722	missense variant	-	NC_000014.9:g.95096073T>C	TOPMed
DICER1	Q9UPY3	p.Leu1617Pro	RCV000560028	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096070A>G	ClinVar
DICER1	Q9UPY3	p.Leu1617Pro	rs1555367614	missense variant	-	NC_000014.9:g.95096070A>G	-
DICER1	Q9UPY3	p.Ser1618Leu	RCV000230338	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096067G>A	ClinVar
DICER1	Q9UPY3	p.Ser1618Ter	RCV000494069	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096067G>T	ClinVar
DICER1	Q9UPY3	p.Ser1618Ter	rs377205344	stop gained	-	NC_000014.9:g.95096067G>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1618Leu	rs377205344	missense variant	-	NC_000014.9:g.95096067G>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1619Met	rs1438625170	missense variant	-	NC_000014.9:g.95096065C>T	gnomAD
DICER1	Q9UPY3	p.Ser1620Asn	RCV000533667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096061C>T	ClinVar
DICER1	Q9UPY3	p.Ser1620Asn	rs1555367601	missense variant	-	NC_000014.9:g.95096061C>T	-
DICER1	Q9UPY3	p.Ala1624Pro	RCV000761082	missense variant	-	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	rs372967646	missense variant	-	NC_000014.9:g.95096050C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ala1624Val	RCV000811928	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096049G>A	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	RCV000696826	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Pro	RCV000566395	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096050C>G	ClinVar
DICER1	Q9UPY3	p.Ala1624Val	RCV000563354	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096049G>A	ClinVar
DICER1	Q9UPY3	p.Ala1624Val	rs1555367596	missense variant	-	NC_000014.9:g.95096049G>A	-
DICER1	Q9UPY3	p.Ser1625Cys	RCV000229012	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>C	ClinVar
DICER1	Q9UPY3	p.Ser1625Phe	RCV000543986	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>A	ClinVar
DICER1	Q9UPY3	p.Ser1625Pro	RCV000471778	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096047A>G	ClinVar
DICER1	Q9UPY3	p.Ser1625Tyr	RCV000205591	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>T	ClinVar
DICER1	Q9UPY3	p.Ser1625Pro	rs529131866	missense variant	-	NC_000014.9:g.95096047A>G	1000Genomes,ExAC,TOPMed
DICER1	Q9UPY3	p.Ser1625Cys	rs864622653	missense variant	-	NC_000014.9:g.95096046G>C	gnomAD
DICER1	Q9UPY3	p.Ser1625Tyr	rs864622653	missense variant	-	NC_000014.9:g.95096046G>T	gnomAD
DICER1	Q9UPY3	p.Ser1625Phe	rs864622653	missense variant	-	NC_000014.9:g.95096046G>A	gnomAD
DICER1	Q9UPY3	p.Ser1625Tyr	RCV000565933	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096046G>T	ClinVar
DICER1	Q9UPY3	p.Val1626Met	RCV000562463	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096044C>T	ClinVar
DICER1	Q9UPY3	p.Val1626Ala	rs777737447	missense variant	-	NC_000014.9:g.95096043A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1626Met	rs1555367589	missense variant	-	NC_000014.9:g.95096044C>T	-
DICER1	Q9UPY3	p.Val1626Gly	rs777737447	missense variant	-	NC_000014.9:g.95096043A>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ser1628Gly	rs748079162	missense variant	-	NC_000014.9:g.95096038T>C	ExAC
DICER1	Q9UPY3	p.Ser1628Ile	rs1392384194	missense variant	-	NC_000014.9:g.95096037C>A	gnomAD
DICER1	Q9UPY3	p.Ser1629Leu	rs1167159136	missense variant	-	NC_000014.9:g.95096034G>A	gnomAD
DICER1	Q9UPY3	p.Arg1630His	RCV000565748	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096031C>T	ClinVar
DICER1	Q9UPY3	p.Arg1630His	RCV000559079	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096031C>T	ClinVar
DICER1	Q9UPY3	p.Arg1630Cys	rs549532374	missense variant	-	NC_000014.9:g.95096032G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1630Leu	rs368343829	missense variant	-	NC_000014.9:g.95096031C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1630Cys	RCV000571126	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096032G>A	ClinVar
DICER1	Q9UPY3	p.Arg1630Cys	RCV000467108	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096032G>A	ClinVar
DICER1	Q9UPY3	p.Arg1630His	rs368343829	missense variant	-	NC_000014.9:g.95096031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1631Ala	RCV000301109	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	RCV000205231	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	RCV000611518	missense variant	-	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1631Ala	rs145551486	missense variant	-	NC_000014.9:g.95096029A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1631Ala	RCV000567615	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096029A>C	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	RCV000476667	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096026A>G	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	RCV000568973	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096026A>G	ClinVar
DICER1	Q9UPY3	p.Ser1632Pro	rs545392797	missense variant	-	NC_000014.9:g.95096026A>G	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Val1633Ile	RCV000466854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096023C>T	ClinVar
DICER1	Q9UPY3	p.Val1633Ile	rs1060503643	missense variant	-	NC_000014.9:g.95096023C>T	-
DICER1	Q9UPY3	p.Leu1634Ser	RCV000234713	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096019A>G	ClinVar
DICER1	Q9UPY3	p.Leu1634Ser	rs149723645	missense variant	-	NC_000014.9:g.95096019A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1635Asn	RCV000706254	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096015T>G	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	RCV000493303	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Ser1637Leu	RCV000228543	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Ser1637Trp	rs140875148	missense variant	-	NC_000014.9:g.95096010G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1637Leu	rs140875148	missense variant	-	NC_000014.9:g.95096010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1637Leu	RCV000391880	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096010G>A	ClinVar
DICER1	Q9UPY3	p.Tyr1639Cys	rs1350329738	missense variant	-	NC_000014.9:g.95096004T>C	gnomAD
DICER1	Q9UPY3	p.Gly1640Ter	RCV000494196	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095997_95096000del	ClinVar
DICER1	Q9UPY3	p.Gly1640Ser	rs753190767	missense variant	-	NC_000014.9:g.95096002C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Cys1641Gly	RCV000693614	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095999A>C	ClinVar
DICER1	Q9UPY3	p.Cys1641Trp	RCV000120642	missense variant	-	NC_000014.9:g.95095997A>C	ClinVar
DICER1	Q9UPY3	p.Cys1641Trp	rs587778231	missense variant	-	NC_000014.9:g.95095997A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1649Val	rs146715213	missense variant	-	NC_000014.9:g.95095975T>C	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met1649Ile	RCV000537552	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095973C>T	ClinVar
DICER1	Q9UPY3	p.Met1649Val	RCV000465635	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095975T>C	ClinVar
DICER1	Q9UPY3	p.Met1649Ile	rs1274381410	missense variant	-	NC_000014.9:g.95095973C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1650Cys	RCV000575142	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095971A>C	ClinVar
DICER1	Q9UPY3	p.Phe1650Cys	rs760439905	missense variant	-	NC_000014.9:g.95095971A>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Phe1650Cys	RCV000547598	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095971A>C	ClinVar
DICER1	Q9UPY3	p.His1652Tyr	RCV000526051	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095966G>A	ClinVar
DICER1	Q9UPY3	p.His1652Tyr	rs1372597986	missense variant	-	NC_000014.9:g.95095966G>A	gnomAD
DICER1	Q9UPY3	p.Pro1653Gln	rs773113605	missense variant	-	NC_000014.9:g.95095962G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1654Ter	RCV000493443	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095960_95095961dup	ClinVar
DICER1	Q9UPY3	p.Asp1654Ter	RCV000240875	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095960_95095961dup	ClinVar
DICER1	Q9UPY3	p.Asp1656Gly	rs1431986661	missense variant	-	NC_000014.9:g.95095953T>C	gnomAD
DICER1	Q9UPY3	p.Asp1656Asn	rs748106400	missense variant	-	NC_000014.9:g.95095954C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1657Thr	RCV000570749	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095950T>G	ClinVar
DICER1	Q9UPY3	p.Lys1657Ile	rs778780063	missense variant	-	NC_000014.9:g.95095950T>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1657Thr	rs778780063	missense variant	-	NC_000014.9:g.95095950T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1657Thr	RCV000706444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095950T>G	ClinVar
DICER1	Q9UPY3	p.Thr1658Ala	rs768640549	missense variant	-	NC_000014.9:g.95095948T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1663Val	RCV000548128	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095933T>C	ClinVar
DICER1	Q9UPY3	p.Ile1663Ter	RCV000493436	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095937del	ClinVar
DICER1	Q9UPY3	p.Ile1663Met	rs1253443798	missense variant	-	NC_000014.9:g.95095931T>C	gnomAD
DICER1	Q9UPY3	p.Ile1663Val	rs1555367530	missense variant	-	NC_000014.9:g.95095933T>C	-
DICER1	Q9UPY3	p.Ser1664Leu	RCV000466310	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095929G>A	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	RCV000563940	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095929G>A	ClinVar
DICER1	Q9UPY3	p.Ser1664Leu	rs988095775	missense variant	-	NC_000014.9:g.95095929G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Gly1665Arg	RCV000654387	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095927C>T	ClinVar
DICER1	Q9UPY3	p.Gly1665Arg	rs1555367528	missense variant	-	NC_000014.9:g.95095927C>T	-
DICER1	Q9UPY3	p.Gly1665Ala	rs1256442548	missense variant	-	NC_000014.9:g.95095926C>G	gnomAD
DICER1	Q9UPY3	p.Glu1667Ter	RCV000654412	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095921C>A	ClinVar
DICER1	Q9UPY3	p.Glu1667Ter	rs1555367522	stop gained	-	NC_000014.9:g.95095921C>A	-
DICER1	Q9UPY3	p.Phe1669Leu	rs1210643393	missense variant	-	NC_000014.9:g.95095913A>C	TOPMed
DICER1	Q9UPY3	p.Lys1671Asn	RCV000654446	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095907C>G	ClinVar
DICER1	Q9UPY3	p.Lys1671Asn	rs751819396	missense variant	-	NC_000014.9:g.95095907C>A	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1671Asn	rs751819396	missense variant	-	NC_000014.9:g.95095907C>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1671Glu	rs1484737767	missense variant	-	NC_000014.9:g.95095909T>C	TOPMed
DICER1	Q9UPY3	p.Lys1672Asn	rs1438773814	missense variant	-	NC_000014.9:g.95095904T>A	gnomAD
DICER1	Q9UPY3	p.Lys1672Asn	RCV000526250	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095904T>A	ClinVar
DICER1	Q9UPY3	p.Asn1674Thr	RCV000693348	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095899T>G	ClinVar
DICER1	Q9UPY3	p.Asn1674Asp	RCV000541146	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095900T>C	ClinVar
DICER1	Q9UPY3	p.Asn1674Thr	rs1424203615	missense variant	-	NC_000014.9:g.95095899T>G	TOPMed
DICER1	Q9UPY3	p.Asn1674Asp	rs1555367519	missense variant	-	NC_000014.9:g.95095900T>C	-
DICER1	Q9UPY3	p.Tyr1675His	RCV000556278	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095897A>G	ClinVar
DICER1	Q9UPY3	p.Tyr1675His	rs1555367518	missense variant	-	NC_000014.9:g.95095897A>G	-
DICER1	Q9UPY3	p.Arg1676Ser	RCV000540216	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095892T>A	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	RCV000687753	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095893C>G	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	RCV000571843	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095893C>G	ClinVar
DICER1	Q9UPY3	p.Arg1676Thr	rs375465466	missense variant	-	NC_000014.9:g.95095893C>G	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1676Lys	rs375465466	missense variant	-	NC_000014.9:g.95095893C>T	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1676Ser	rs1555367513	missense variant	-	NC_000014.9:g.95095892T>A	-
DICER1	Q9UPY3	p.Lys1678Asn	rs753111453	missense variant	-	NC_000014.9:g.95095886C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1678Glu	rs758758363	missense variant	-	NC_000014.9:g.95095888T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1679Ser	rs1424077753	missense variant	-	NC_000014.9:g.95095884T>C	TOPMed
DICER1	Q9UPY3	p.Lys1680Glu	RCV000476765	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095882T>C	ClinVar
DICER1	Q9UPY3	p.Lys1680Glu	RCV000566917	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095882T>C	ClinVar
DICER1	Q9UPY3	p.Lys1680Glu	rs1060503639	missense variant	-	NC_000014.9:g.95095882T>C	gnomAD
DICER1	Q9UPY3	p.Lys1680Gln	rs1060503639	missense variant	-	NC_000014.9:g.95095882T>G	gnomAD
DICER1	Q9UPY3	p.Ala1681Ser	RCV000570010	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095879C>A	ClinVar
DICER1	Q9UPY3	p.Ala1681Ser	rs1555367505	missense variant	-	NC_000014.9:g.95095879C>A	-
DICER1	Q9UPY3	p.Gln1685Ter	RCV000240917	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095867G>A	ClinVar
DICER1	Q9UPY3	p.Gln1685Ter	rs886037721	stop gained	-	NC_000014.9:g.95095867G>A	-
DICER1	Q9UPY3	p.Ala1686Val	RCV000555084	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095863G>A	ClinVar
DICER1	Q9UPY3	p.Ala1686Val	rs1555367498	missense variant	-	NC_000014.9:g.95095863G>A	-
DICER1	Q9UPY3	p.Thr1688Lys	RCV000532685	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095857G>T	ClinVar
DICER1	Q9UPY3	p.Thr1688Lys	rs1555367495	missense variant	-	NC_000014.9:g.95095857G>T	-
DICER1	Q9UPY3	p.His1693Asn	RCV000570079	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095843G>T	ClinVar
DICER1	Q9UPY3	p.His1693Arg	rs1359055040	missense variant	-	NC_000014.9:g.95095842T>C	gnomAD
DICER1	Q9UPY3	p.His1693Asn	rs1555367487	missense variant	-	NC_000014.9:g.95095843G>T	-
DICER1	Q9UPY3	p.Thr1696Ser	rs1160478379	missense variant	-	NC_000014.9:g.95095833G>C	gnomAD
DICER1	Q9UPY3	p.Ile1697Val	RCV000553062	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095831T>C	ClinVar
DICER1	Q9UPY3	p.Ile1697Met	rs753251774	missense variant	-	NC_000014.9:g.95095829G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1697Val	rs1457257809	missense variant	-	NC_000014.9:g.95095831T>C	gnomAD
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000851423	nonsense	-	NC_000014.9:g.95094149G>T	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000654463	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094149G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	RCV000627364	nonsense	-	NC_000014.9:g.95094149G>C	ClinVar
DICER1	Q9UPY3	p.Tyr1701Ter	rs875989780	stop gained	-	NC_000014.9:g.95094149G>T	-
DICER1	Q9UPY3	p.Tyr1701Ter	rs875989780	stop gained	-	NC_000014.9:g.95094149G>C	-
DICER1	Q9UPY3	p.Gln1702Ter	RCV000240919	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094148G>A	ClinVar
DICER1	Q9UPY3	p.Gln1702Ter	RCV000494634	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094148G>A	ClinVar
DICER1	Q9UPY3	p.Gln1702Ter	rs886037723	stop gained	-	NC_000014.9:g.95094148G>A	-
DICER1	Q9UPY3	p.Arg1703Cys	RCV000231550	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094145G>A	ClinVar
DICER1	Q9UPY3	p.Arg1703Cys	rs878855272	missense variant	-	NC_000014.9:g.95094145G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Glu1705Lys	VAR_067091	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Phe1706Leu	RCV000474549	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094134G>T	ClinVar
DICER1	Q9UPY3	p.Phe1706Leu	rs1060503635	missense variant	-	NC_000014.9:g.95094134G>T	-
DICER1	Q9UPY3	p.Gly1708Glu	rs886037724	missense variant	-	NC_000014.9:g.95094129C>T	-
DICER1	Q9UPY3	p.Gly1708Glu	RCV000240960	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094129C>T	ClinVar
DICER1	Q9UPY3	p.Asp1709Gly	RCV000546662	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094126T>C	ClinVar
DICER1	Q9UPY3	p.Asp1709Gly	rs1555366979	missense variant	-	NC_000014.9:g.95094126T>C	-
DICER1	Q9UPY3	p.Asp1709Gly	rs1555366979	missense variant	-	NC_000014.9:g.95094126T>C	UniProt,dbSNP
DICER1	Q9UPY3	p.Asp1709Gly	VAR_067093	missense variant	-	NC_000014.9:g.95094126T>C	UniProt
DICER1	Q9UPY3	p.Asp1709Tyr	VAR_081918	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
DICER1	Q9UPY3	p.Asp1709Glu	VAR_067092	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1709Asn	VAR_067094	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1713Val	VAR_081919	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
DICER1	Q9UPY3	p.Tyr1714His	rs1433832479	missense variant	-	NC_000014.9:g.95094112A>G	gnomAD
DICER1	Q9UPY3	p.Leu1715Arg	rs1269643869	missense variant	-	NC_000014.9:g.95094108A>C	gnomAD
DICER1	Q9UPY3	p.Lys1718Arg	rs1488309058	missense variant	-	NC_000014.9:g.95094099T>C	gnomAD
DICER1	Q9UPY3	p.Asp1723Glu	RCV000535105	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094083G>C	ClinVar
DICER1	Q9UPY3	p.Asp1723Glu	rs1555366914	missense variant	-	NC_000014.9:g.95094083G>C	-
DICER1	Q9UPY3	p.Pro1724Ala	rs1207697357	missense variant	-	NC_000014.9:g.95094082G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Pro1724Gln	RCV000545467	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094081G>T	ClinVar
DICER1	Q9UPY3	p.Pro1724Gln	rs749900564	missense variant	-	NC_000014.9:g.95094081G>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1724Arg	rs749900564	missense variant	-	NC_000014.9:g.95094081G>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1725Trp	rs756827508	missense variant	-	NC_000014.9:g.95094079G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Arg1725Gln	rs751273916	missense variant	-	NC_000014.9:g.95094078C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Gln1726Leu	RCV000557161	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094075T>A	ClinVar
DICER1	Q9UPY3	p.Gln1726Leu	rs1555366877	missense variant	-	NC_000014.9:g.95094075T>A	-
DICER1	Q9UPY3	p.His1727Arg	RCV000701569	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094072T>C	ClinVar
DICER1	Q9UPY3	p.His1727Pro	rs1262583273	missense variant	-	NC_000014.9:g.95094072T>G	TOPMed
DICER1	Q9UPY3	p.Ser1728Phe	rs762801582	missense variant	-	NC_000014.9:g.95094069G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1731Leu	RCV000550226	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094061C>G	ClinVar
DICER1	Q9UPY3	p.Val1731Leu	rs1555366846	missense variant	-	NC_000014.9:g.95094061C>G	-
DICER1	Q9UPY3	p.del1732del	RCV000240897	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
DICER1	Q9UPY3	p.Leu1732Ter	RCV000240897	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
DICER1	Q9UPY3	p.Thr1743Ser	rs1196791933	missense variant	-	NC_000014.9:g.95094025T>A	gnomAD
DICER1	Q9UPY3	p.Phe1745Ter	RCV000493704	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094019del	ClinVar
DICER1	Q9UPY3	p.Ala1749Thr	rs1161123623	missense variant	-	NC_000014.9:g.95094007C>T	TOPMed
DICER1	Q9UPY3	p.Val1750Ile	RCV000572213	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094004C>T	ClinVar
DICER1	Q9UPY3	p.Val1750Ile	RCV000534697	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094004C>T	ClinVar
DICER1	Q9UPY3	p.Val1750Ile	rs1184678913	missense variant	-	NC_000014.9:g.95094004C>T	gnomAD
DICER1	Q9UPY3	p.del1751del	RCV000240933	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
DICER1	Q9UPY3	p.Lys1751Ter	RCV000240933	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
DICER1	Q9UPY3	p.Asp1753Glu	RCV000527854	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093993G>C	ClinVar
DICER1	Q9UPY3	p.Asp1753Glu	rs1165221864	missense variant	-	NC_000014.9:g.95093993G>C	TOPMed
DICER1	Q9UPY3	p.Asp1753Asn	RCV000549329	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093995C>T	ClinVar
DICER1	Q9UPY3	p.Asp1753Asn	rs1460430963	missense variant	-	NC_000014.9:g.95093995C>T	TOPMed
DICER1	Q9UPY3	p.Lys1756Arg	rs1423918933	missense variant	-	NC_000014.9:g.95093985T>C	gnomAD
DICER1	Q9UPY3	p.Lys1759Arg	RCV000120643	missense variant	-	NC_000014.9:g.95093976T>C	ClinVar
DICER1	Q9UPY3	p.Lys1759Arg	rs144259142	missense variant	-	NC_000014.9:g.95093976T>C	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Val1761Ala	RCV000565847	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093970A>G	ClinVar
DICER1	Q9UPY3	p.Val1761Ile	RCV000654389	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093971C>T	ClinVar
DICER1	Q9UPY3	p.Val1761Ala	rs1555366735	missense variant	-	NC_000014.9:g.95093970A>G	-
DICER1	Q9UPY3	p.Val1761Ile	rs1555366740	missense variant	-	NC_000014.9:g.95093971C>T	-
DICER1	Q9UPY3	p.Glu1764Ala	RCV000462050	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093961T>G	ClinVar
DICER1	Q9UPY3	p.Glu1764Ala	rs1060503637	missense variant	-	NC_000014.9:g.95093961T>G	-
DICER1	Q9UPY3	p.His1767Gln	RCV000461220	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093951A>C	ClinVar
DICER1	Q9UPY3	p.His1767Arg	rs1296798488	missense variant	-	NC_000014.9:g.95093952T>C	TOPMed
DICER1	Q9UPY3	p.His1767Gln	rs1060503656	missense variant	-	NC_000014.9:g.95093951A>C	-
DICER1	Q9UPY3	p.His1767Ter	RCV000493189	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.del1767del	RCV000493189	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.His1767Ter	RCV000240869	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.del1767del	RCV000240869	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
DICER1	Q9UPY3	p.Phe1772Ter	RCV000229765	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093937_95093938del	ClinVar
DICER1	Q9UPY3	p.Phe1772Ter	RCV000657418	frameshift	-	NC_000014.9:g.95093937_95093938del	ClinVar
DICER1	Q9UPY3	p.Leu1777Phe	RCV000227591	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093923G>A	ClinVar
DICER1	Q9UPY3	p.Leu1777Val	rs183879938	missense variant	-	NC_000014.9:g.95093923G>C	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1777His	rs780545199	missense variant	-	NC_000014.9:g.95093922A>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Leu1777Phe	rs183879938	missense variant	-	NC_000014.9:g.95093923G>A	1000Genomes,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1779Glu	RCV000525934	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093917T>C	ClinVar
DICER1	Q9UPY3	p.Lys1779Glu	rs1555366685	missense variant	-	NC_000014.9:g.95093917T>C	-
DICER1	Q9UPY3	p.Met1782Ile	RCV000540658	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093906C>T	ClinVar
DICER1	Q9UPY3	p.Met1782Ile	rs1555366679	missense variant	-	NC_000014.9:g.95093906C>T	-
DICER1	Q9UPY3	p.Arg1790Lys	RCV000692578	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091361C>T	ClinVar
DICER1	Q9UPY3	p.Ser1792Pro	RCV000470444	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091356A>G	ClinVar
DICER1	Q9UPY3	p.Ser1792Cys	RCV000565494	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091355G>C	ClinVar
DICER1	Q9UPY3	p.Ser1792Cys	rs1225830476	missense variant	-	NC_000014.9:g.95091355G>C	TOPMed
DICER1	Q9UPY3	p.Ser1792Pro	rs1060503651	missense variant	-	NC_000014.9:g.95091356A>G	-
DICER1	Q9UPY3	p.Glu1794Asp	rs766285402	missense variant	-	NC_000014.9:g.95091348C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1795Glu	rs1465785637	missense variant	-	NC_000014.9:g.95091345A>T	gnomAD
DICER1	Q9UPY3	p.Glu1799Ter	RCV000240936	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
DICER1	Q9UPY3	p.del1799del	RCV000240936	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
DICER1	Q9UPY3	p.Met1808Val	RCV000554604	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091308T>C	ClinVar
DICER1	Q9UPY3	p.Met1808Leu	rs763241498	missense variant	-	NC_000014.9:g.95091308T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1808Val	rs763241498	missense variant	-	NC_000014.9:g.95091308T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1810Asn	rs775912475	missense variant	-	NC_000014.9:g.95091302C>T	UniProt,dbSNP
DICER1	Q9UPY3	p.Asp1810Asn	VAR_067096	missense variant	-	NC_000014.9:g.95091302C>T	UniProt
DICER1	Q9UPY3	p.Asp1810Asn	rs775912475	missense variant	-	NC_000014.9:g.95091302C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asp1810His	VAR_067095	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Asp1810Tyr	VAR_067097	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Gly	VAR_067098	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Lys	VAR_067099	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Glu1813Gln	VAR_067100	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Ser1814Leu	RCV000762934	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95091289G>A	ClinVar
DICER1	Q9UPY3	p.Ser1814Leu	RCV000851480	missense variant	-	NC_000014.9:g.95091289G>A	ClinVar
DICER1	Q9UPY3	p.Ser1814Leu	rs1060503625	missense variant	-	NC_000014.9:g.95091289G>A	-
DICER1	Q9UPY3	p.Leu1815Phe	rs1282259682	missense variant	-	NC_000014.9:g.95091287G>A	gnomAD
DICER1	Q9UPY3	p.Ala1816Val	rs1244996889	missense variant	-	NC_000014.9:g.95091283G>A	gnomAD
DICER1	Q9UPY3	p.Met1821Val	RCV000457347	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>C	ClinVar
DICER1	Q9UPY3	p.Met1821Leu	RCV000458610	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>G	ClinVar
DICER1	Q9UPY3	p.Met1821Lys	rs1412965790	missense variant	-	NC_000014.9:g.95091268A>T	TOPMed
DICER1	Q9UPY3	p.Met1821Val	rs1060503604	missense variant	-	NC_000014.9:g.95091269T>C	gnomAD
DICER1	Q9UPY3	p.Met1821Leu	rs1060503604	missense variant	-	NC_000014.9:g.95091269T>G	gnomAD
DICER1	Q9UPY3	p.Asp1822Gly	RCV000492838	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091265T>C	ClinVar
DICER1	Q9UPY3	p.Asp1822Val	RCV000240872	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091265T>A	ClinVar
DICER1	Q9UPY3	p.Asp1822Gly	rs886037729	missense variant	-	NC_000014.9:g.95091265T>C	-
DICER1	Q9UPY3	p.Gly1824Val	RCV000564741	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091259C>A	ClinVar
DICER1	Q9UPY3	p.Gly1824Val	RCV000459341	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091259C>A	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	RCV000693668	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091260C>G	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	RCV000563783	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091260C>G	ClinVar
DICER1	Q9UPY3	p.Gly1824Arg	rs752411788	missense variant	-	NC_000014.9:g.95091260C>G	-
DICER1	Q9UPY3	p.Gly1824Val	rs377685186	missense variant	-	NC_000014.9:g.95091259C>A	ESP,ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1827Ter	RCV000529758	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091251del	ClinVar
DICER1	Q9UPY3	p.Leu1827Ter	RCV000851481	frameshift	-	NC_000014.9:g.95091251del	ClinVar
DICER1	Q9UPY3	p.Thr1829Ile	RCV000654397	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091244G>A	ClinVar
DICER1	Q9UPY3	p.Thr1829Ile	rs1555366196	missense variant	-	NC_000014.9:g.95091244G>A	-
DICER1	Q9UPY3	p.Gln1832Arg	RCV000700964	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091235T>C	ClinVar
DICER1	Q9UPY3	p.Gln1832Ter	RCV000474798	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091236G>A	ClinVar
DICER1	Q9UPY3	p.Gln1832Glu	rs1060503583	missense variant	-	NC_000014.9:g.95091236G>C	gnomAD
DICER1	Q9UPY3	p.Gln1832Ter	rs1060503583	stop gained	-	NC_000014.9:g.95091236G>A	gnomAD
DICER1	Q9UPY3	p.Gln1832His	rs1344743618	missense variant	-	NC_000014.9:g.95091234C>G	gnomAD
DICER1	Q9UPY3	p.Val1833Gly	rs1324448543	missense variant	-	NC_000014.9:g.95091232A>C	gnomAD
DICER1	Q9UPY3	p.Tyr1835Ter	RCV000706258	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091223_95091226del	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000851482	missense variant	-	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000460203	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Ser	RCV000570256	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>G	ClinVar
DICER1	Q9UPY3	p.Tyr1835Cys	RCV000569795	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>C	ClinVar
DICER1	Q9UPY3	p.Tyr1835Ser	rs747510783	missense variant	-	NC_000014.9:g.95091226T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1835Cys	rs747510783	missense variant	-	NC_000014.9:g.95091226T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Tyr1835His	rs1407335437	missense variant	-	NC_000014.9:g.95091227A>G	gnomAD
DICER1	Q9UPY3	p.Tyr1835Ser	RCV000687902	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>G	ClinVar
DICER1	Q9UPY3	p.Pro1836Leu	rs187288681	missense variant	-	NC_000014.9:g.95091223G>A	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Pro1836His	rs187288681	missense variant	-	NC_000014.9:g.95091223G>T	1000Genomes,ExAC,gnomAD
DICER1	Q9UPY3	p.Met1837Ile	rs747798126	missense variant	-	NC_000014.9:g.95091219C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Met1838Ile	rs1187244456	missense variant	-	NC_000014.9:g.95091216C>T	gnomAD
DICER1	Q9UPY3	p.Arg1839Trp	RCV000572507	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091215G>A	ClinVar
DICER1	Q9UPY3	p.Arg1839Gln	RCV000566657	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091214C>T	ClinVar
DICER1	Q9UPY3	p.Arg1839Gln	RCV000476806	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091214C>T	ClinVar
DICER1	Q9UPY3	p.Arg1839Trp	RCV000698396	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091215G>A	ClinVar
DICER1	Q9UPY3	p.Arg1839Trp	rs1447120867	missense variant	-	NC_000014.9:g.95091215G>A	TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1839Gln	rs587778233	missense variant	-	NC_000014.9:g.95091214C>T	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Leu1841Pro	rs754642180	missense variant	-	NC_000014.9:g.95091208A>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1842Val	rs749059266	missense variant	-	NC_000014.9:g.95091206T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Ile1842Val	RCV000227985	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091206T>C	ClinVar
DICER1	Q9UPY3	p.Lys1844Asn	rs1360182417	missense variant	-	NC_000014.9:g.95091105C>G	gnomAD
DICER1	Q9UPY3	p.Ala1847Thr	rs1412433775	missense variant	-	NC_000014.9:g.95091098C>T	TOPMed
DICER1	Q9UPY3	p.Asn1848Asp	rs748931250	missense variant	-	NC_000014.9:g.95091095T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Arg1851His	rs1426678586	missense variant	-	NC_000014.9:g.95091085C>T	TOPMed,gnomAD
DICER1	Q9UPY3	p.Met1860Ile	rs1228225906	missense variant	-	NC_000014.9:g.95091057C>T	TOPMed
DICER1	Q9UPY3	p.Pro1869Leu	RCV000654379	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090661G>A	ClinVar
DICER1	Q9UPY3	p.Pro1869Leu	rs1459884777	missense variant	-	NC_000014.9:g.95090661G>A	gnomAD
DICER1	Q9UPY3	p.Ala1870Ser	rs1555366012	missense variant	-	NC_000014.9:g.95090659C>A	-
DICER1	Q9UPY3	p.Asp1875Tyr	rs745601023	missense variant	-	NC_000014.9:g.95090644C>A	ExAC
DICER1	Q9UPY3	p.Asp1875Asn	rs745601023	missense variant	-	NC_000014.9:g.95090644C>T	ExAC
DICER1	Q9UPY3	p.Gly1876Arg	rs770962059	missense variant	-	NC_000014.9:g.95090641C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly1876Ala	rs1238684646	missense variant	-	NC_000014.9:g.95090640C>G	gnomAD
DICER1	Q9UPY3	p.Thr1881Ala	rs746992218	missense variant	-	NC_000014.9:g.95090626T>C	ExAC,gnomAD
DICER1	Q9UPY3	p.Glu1883Gly	rs1299000813	missense variant	-	NC_000014.9:g.95090619T>C	gnomAD
DICER1	Q9UPY3	p.Glu1883Asp	rs753959216	missense variant	-	NC_000014.9:g.95090618T>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Gly1886Arg	RCV000696981	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090611C>G	ClinVar
DICER1	Q9UPY3	p.Gly1892Ala	rs756385724	missense variant	-	NC_000014.9:g.95090592C>G	ExAC,gnomAD
DICER1	Q9UPY3	p.Val1893Ile	RCV000561341	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090590C>T	ClinVar
DICER1	Q9UPY3	p.Val1893Ala	RCV000575385	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090589A>G	ClinVar
DICER1	Q9UPY3	p.Val1893Ala	RCV000823022	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090589A>G	ClinVar
DICER1	Q9UPY3	p.Val1893Ala	rs1555365989	missense variant	-	NC_000014.9:g.95090589A>G	-
DICER1	Q9UPY3	p.Val1893Ile	rs1555365992	missense variant	-	NC_000014.9:g.95090590C>T	-
DICER1	Q9UPY3	p.Arg1898Gly	VAR_081920	Missense	-	-	UniProt
DICER1	Q9UPY3	p.Arg1910Pro	RCV000556473	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090538C>G	ClinVar
DICER1	Q9UPY3	p.Arg1910Pro	rs1555365979	missense variant	-	NC_000014.9:g.95090538C>G	-
DICER1	Q9UPY3	p.Arg1910Ter	rs762281340	stop gained	-	NC_000014.9:g.95090539G>A	ExAC,gnomAD
DICER1	Q9UPY3	p.Lys1913Arg	RCV000474828	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	RCV000564664	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	RCV000765190	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Lys1913Arg	rs752116341	missense variant	-	NC_000014.9:g.95090529T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Lys1913Arg	RCV000389746	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95090529T>C	ClinVar
DICER1	Q9UPY3	p.Asn1915Ser	rs1178537434	missense variant	-	NC_000014.9:g.95090523T>C	TOPMed
DICER1	Q9UPY3	p.Gln1916Ter	RCV000654413	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090521G>A	ClinVar
DICER1	Q9UPY3	p.Gln1916Ter	rs1253131536	stop gained	-	NC_000014.9:g.95090521G>A	TOPMed
DICER1	Q9UPY3	p.Pro1917Arg	RCV000564271	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090517G>C	ClinVar
DICER1	Q9UPY3	p.Pro1917Arg	rs1555365972	missense variant	-	NC_000014.9:g.95090517G>C	-
DICER1	Q9UPY3	p.Gln1918Arg	rs1451403510	missense variant	-	NC_000014.9:g.95090514T>C	gnomAD
DICER1	Q9UPY3	p.Gln1918Leu	rs1451403510	missense variant	-	NC_000014.9:g.95090514T>A	gnomAD
DICER1	Q9UPY3	p.Val1919Ile	rs762301997	missense variant	-	NC_000014.9:g.95090512C>T	ExAC,gnomAD
DICER1	Q9UPY3	p.Asn1921Ser	RCV000574482	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090505T>C	ClinVar
DICER1	Q9UPY3	p.Asn1921Ser	RCV000538520	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090505T>C	ClinVar
DICER1	Q9UPY3	p.Asn1921His	rs775077210	missense variant	-	NC_000014.9:g.95090506T>G	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Asn1921Ser	rs764747360	missense variant	-	NC_000014.9:g.95090505T>C	ExAC,TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1922Arg	rs912470196	missense variant	-	NC_000014.9:g.95090501G>C	TOPMed,gnomAD
DICER1	Q9UPY3	p.Ser1922Asn	rs1220636958	missense variant	-	NC_000014.9:g.95090502C>T	gnomAD
JAG2	Q9Y219	p.Arg2Trp	rs1203920003	missense variant	-	NC_000014.9:g.105168417G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala3Glu	rs1489728693	missense variant	-	NC_000014.9:g.105168413G>T	gnomAD
JAG2	Q9Y219	p.Gln4Ter	rs1385964571	stop gained	-	NC_000014.9:g.105168411G>A	gnomAD
JAG2	Q9Y219	p.Gln4Arg	rs1265553114	missense variant	-	NC_000014.9:g.105168410T>C	gnomAD
JAG2	Q9Y219	p.Arg6Gly	rs1356915804	missense variant	-	NC_000014.9:g.105168405G>C	gnomAD
JAG2	Q9Y219	p.Arg6Pro	rs1422152305	missense variant	-	NC_000014.9:g.105168404C>G	TOPMed
JAG2	Q9Y219	p.Gly7Arg	rs1427972575	missense variant	-	NC_000014.9:g.105168402C>T	TOPMed
JAG2	Q9Y219	p.Arg8Cys	rs1176911526	missense variant	-	NC_000014.9:g.105168399G>A	TOPMed
JAG2	Q9Y219	p.Leu9Val	rs1379547288	missense variant	-	NC_000014.9:g.105168396G>C	TOPMed
JAG2	Q9Y219	p.Pro10Ser	rs1464734365	missense variant	-	NC_000014.9:g.105168393G>A	TOPMed
JAG2	Q9Y219	p.Pro10Leu	rs1171462313	missense variant	-	NC_000014.9:g.105168392G>A	TOPMed
JAG2	Q9Y219	p.Arg12Leu	rs950064600	missense variant	-	NC_000014.9:g.105168386C>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg12Gln	rs950064600	missense variant	-	NC_000014.9:g.105168386C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Leu16Arg	rs1301401635	missense variant	-	NC_000014.9:g.105168374A>C	TOPMed
JAG2	Q9Y219	p.Ala18Val	rs1466259948	missense variant	-	NC_000014.9:g.105168368G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Leu19Phe	rs1170731098	missense variant	-	NC_000014.9:g.105168366G>A	gnomAD
JAG2	Q9Y219	p.Trp20Leu	rs991511891	missense variant	-	NC_000014.9:g.105168362C>A	TOPMed
JAG2	Q9Y219	p.Ala23Thr	rs1335464985	missense variant	-	NC_000014.9:g.105168107C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala24Val	rs773382574	missense variant	-	NC_000014.9:g.105168103G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg25Leu	rs762082391	missense variant	-	NC_000014.9:g.105168100C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg25Gln	rs762082391	missense variant	-	NC_000014.9:g.105168100C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro26Leu	rs775197507	missense variant	-	NC_000014.9:g.105168097G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Pro26Ser	rs1418307134	missense variant	-	NC_000014.9:g.105168098G>A	TOPMed
JAG2	Q9Y219	p.Met27Ile	rs1414820297	missense variant	-	NC_000014.9:g.105168093C>A	gnomAD
JAG2	Q9Y219	p.Gly28Ser	rs1177349918	missense variant	-	NC_000014.9:g.105168092C>T	gnomAD
JAG2	Q9Y219	p.Tyr29His	rs1469187125	missense variant	-	NC_000014.9:g.105168089A>G	gnomAD
JAG2	Q9Y219	p.Glu31Lys	COSM4049530	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105168083C>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Gln33Arg	rs1461458061	missense variant	-	NC_000014.9:g.105168076T>C	gnomAD
JAG2	Q9Y219	p.Gln33Glu	rs769589604	missense variant	-	NC_000014.9:g.105168077G>C	ExAC,gnomAD
JAG2	Q9Y219	p.Gln33His	rs1242341917	missense variant	-	NC_000014.9:g.105168075C>A	gnomAD
JAG2	Q9Y219	p.Leu34Val	rs745770089	missense variant	-	NC_000014.9:g.105168074G>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser35Asn	rs781019423	missense variant	-	NC_000014.9:g.105168070C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Leu37Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105168065G>T	NCI-TCGA
JAG2	Q9Y219	p.Arg38Trp	rs1350078621	missense variant	-	NC_000014.9:g.105168062G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg38Gln	rs1414590783	missense variant	-	NC_000014.9:g.105168061C>T	TOPMed
JAG2	Q9Y219	p.Leu44Val	rs746476458	missense variant	-	NC_000014.9:g.105168044G>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser46Asn	rs1383771678	missense variant	-	NC_000014.9:g.105168037C>T	gnomAD
JAG2	Q9Y219	p.Ala48Thr	rs978864470	missense variant	-	NC_000014.9:g.105168032C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly52Ser	rs779365716	missense variant	-	NC_000014.9:g.105168020C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp53Asn	rs1221140547	missense variant	-	NC_000014.9:g.105168017C>T	TOPMed
JAG2	Q9Y219	p.Gly54Ser	rs1444910313	missense variant	-	NC_000014.9:g.105168014C>T	gnomAD
JAG2	Q9Y219	p.Arg55Trp	rs1181594275	missense variant	-	NC_000014.9:g.105168011G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg55Gln	rs1466089682	missense variant	-	NC_000014.9:g.105168010C>T	gnomAD
JAG2	Q9Y219	p.Arg55Gly	rs1181594275	missense variant	-	NC_000014.9:g.105168011G>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Thr56Ala	rs1449421231	missense variant	-	NC_000014.9:g.105168008T>C	gnomAD
JAG2	Q9Y219	p.Thr56Ile	rs1242439634	missense variant	-	NC_000014.9:g.105168007G>A	gnomAD
JAG2	Q9Y219	p.Thr57Lys	rs766765476	missense variant	-	NC_000014.9:g.105168004G>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg58His	rs1360523089	missense variant	-	NC_000014.9:g.105168001C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg58Ser	rs750490578	missense variant	-	NC_000014.9:g.105168002G>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg58Pro	rs1360523089	missense variant	-	NC_000014.9:g.105168001C>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala59Pro	rs767586602	missense variant	-	NC_000014.9:g.105167999C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala59Val	rs761963948	missense variant	-	NC_000014.9:g.105167998G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly60Glu	rs1289776029	missense variant	-	NC_000014.9:g.105167995C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly61Ala	rs149962192	missense variant	-	NC_000014.9:g.105167992C>G	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly61Ser	rs1424612515	missense variant	-	NC_000014.9:g.105167993C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly61Asp	rs149962192	missense variant	-	NC_000014.9:g.105167992C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly63Val	rs369874899	missense variant	-	NC_000014.9:g.105167986C>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly63Ser	rs965974674	missense variant	-	NC_000014.9:g.105167987C>T	TOPMed
JAG2	Q9Y219	p.Gly63Cys	rs965974674	missense variant	-	NC_000014.9:g.105167987C>A	TOPMed
JAG2	Q9Y219	p.His64Arg	rs1364331833	missense variant	-	NC_000014.9:g.105167983T>C	gnomAD
JAG2	Q9Y219	p.Asp65Asn	rs770756897	missense variant	-	NC_000014.9:g.105167981C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp65Gly	rs747031946	missense variant	-	NC_000014.9:g.105167980T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Asp68Glu	rs1331749946	missense variant	-	NC_000014.9:g.105167970G>C	TOPMed
JAG2	Q9Y219	p.Thr69Lys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105167968G>T	NCI-TCGA
JAG2	Q9Y219	p.Val71Met	rs772783853	missense variant	-	NC_000014.9:g.105167963C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg72His	rs771724492	missense variant	-	NC_000014.9:g.105167959C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Lys76Gln	rs778743959	missense variant	-	NC_000014.9:g.105167948T>G	ExAC,gnomAD
JAG2	Q9Y219	p.Ala80Thr	rs754699224	missense variant	-	NC_000014.9:g.105167936C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Lys81Glu	rs749594653	missense variant	-	NC_000014.9:g.105167933T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Pro84Leu	rs1352686418	missense variant	-	NC_000014.9:g.105167923G>A	TOPMed
JAG2	Q9Y219	p.Pro84Ala	rs1018568467	missense variant	-	NC_000014.9:g.105167924G>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro84Ser	rs1018568467	missense variant	-	NC_000014.9:g.105167924G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Thr85Met	rs1296804632	missense variant	-	NC_000014.9:g.105167920G>A	gnomAD
JAG2	Q9Y219	p.Ser89Thr	rs1203302825	missense variant	-	NC_000014.9:g.105167908C>G	TOPMed
JAG2	Q9Y219	p.Gly91Ala	rs1481516436	missense variant	-	NC_000014.9:g.105167902C>G	gnomAD
JAG2	Q9Y219	p.His92Tyr	rs1285754373	missense variant	-	NC_000014.9:g.105167900G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro96Ser	rs1300714747	missense variant	-	NC_000014.9:g.105167888G>A	gnomAD
JAG2	Q9Y219	p.Val97Met	rs750939514	missense variant	-	NC_000014.9:g.105167885C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Tyr104His	rs1408005800	missense variant	-	NC_000014.9:g.105167864A>G	gnomAD
JAG2	Q9Y219	p.Tyr104Phe	rs751674430	missense variant	-	NC_000014.9:g.105167863T>A	ExAC
JAG2	Q9Y219	p.Pro106Ser	rs952412444	missense variant	-	NC_000014.9:g.105167858G>A	TOPMed
JAG2	Q9Y219	p.Pro106Leu	rs764196162	missense variant	-	NC_000014.9:g.105167857G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Pro107Leu	rs763290949	missense variant	-	NC_000014.9:g.105167854G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro107Arg	rs763290949	missense variant	-	NC_000014.9:g.105167854G>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala108Val	rs776282805	missense variant	-	NC_000014.9:g.105167851G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly112Trp	rs766203604	missense variant	-	NC_000014.9:g.105167840C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Asp113Ala	rs1188521450	missense variant	-	NC_000014.9:g.105167836T>G	TOPMed
JAG2	Q9Y219	p.Arg114Gln	rs1204007533	missense variant	-	NC_000014.9:g.105167833C>T	gnomAD
JAG2	Q9Y219	p.Ala115Pro	rs993856688	missense variant	-	NC_000014.9:g.105167831C>G	TOPMed
JAG2	Q9Y219	p.Arg116Pro	rs1265329908	missense variant	-	NC_000014.9:g.105167827C>G	gnomAD
JAG2	Q9Y219	p.Arg116Gly	rs896915608	missense variant	-	NC_000014.9:g.105167828G>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg120Gln	rs1280880686	missense variant	-	NC_000014.9:g.105167815C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg120Pro	rs1280880686	missense variant	-	NC_000014.9:g.105167815C>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg120Trp	rs1236670971	missense variant	-	NC_000014.9:g.105167816G>A	TOPMed
JAG2	Q9Y219	p.Ala121Val	rs773308170	missense variant	-	NC_000014.9:g.105167812G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly122Ser	rs1013457771	missense variant	-	NC_000014.9:g.105167810C>T	TOPMed
JAG2	Q9Y219	p.Asp124Gly	rs1252278244	missense variant	-	NC_000014.9:g.105167803T>C	TOPMed
JAG2	Q9Y219	p.Asp124His	rs895046261	missense variant	-	NC_000014.9:g.105167804C>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Asp126Gly	rs1055078136	missense variant	-	NC_000014.9:g.105167797T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro133Leu	rs904500344	missense variant	-	NC_000014.9:g.105167776G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro133Arg	rs904500344	missense variant	-	NC_000014.9:g.105167776G>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala137Ser	rs1251260759	missense variant	-	NC_000014.9:g.105167765C>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg140His	rs761901822	missense variant	-	NC_000014.9:g.105157762C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg140Cys	rs746502121	missense variant	-	NC_000014.9:g.105157763G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg140Leu	rs761901822	missense variant	-	NC_000014.9:g.105157762C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser141Phe	rs1384148730	missense variant	-	NC_000014.9:g.105157759G>A	gnomAD
JAG2	Q9Y219	p.Thr143Ile	rs1288433924	missense variant	-	NC_000014.9:g.105157753G>A	gnomAD
JAG2	Q9Y219	p.Ile145Met	rs373741220	missense variant	-	NC_000014.9:g.105157746G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val146Leu	rs981793762	missense variant	-	NC_000014.9:g.105157745C>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Val146Met	rs981793762	missense variant	-	NC_000014.9:g.105157745C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu147Ter	COSM469726	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105157742C>A	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Ala148Val	rs768219400	missense variant	-	NC_000014.9:g.105157738G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Trp149Arg	rs199687725	missense variant	-	NC_000014.9:g.105157736A>G	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp150ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105157733C>-	NCI-TCGA
JAG2	Q9Y219	p.Asn153Ser	rs1329440023	missense variant	-	NC_000014.9:g.105157723T>C	gnomAD
JAG2	Q9Y219	p.Asn153Asp	rs1261630017	missense variant	-	NC_000014.9:g.105157724T>C	gnomAD
JAG2	Q9Y219	p.Asp154Asn	rs1490700973	missense variant	-	NC_000014.9:g.105157721C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Asp154Glu	COSM3689909	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105157719A>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Thr156Ile	rs1291806344	missense variant	-	NC_000014.9:g.105157714G>A	gnomAD
JAG2	Q9Y219	p.Pro157Leu	rs746204393	missense variant	-	NC_000014.9:g.105157711G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu159Asp	rs755251181	missense variant	-	NC_000014.9:g.105155988C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Glu160Val	rs781078475	missense variant	-	NC_000014.9:g.105155986T>A	ExAC,gnomAD
JAG2	Q9Y219	p.Glu160Asp	rs963780594	missense variant	-	NC_000014.9:g.105155985C>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu160Ter	rs754120117	stop gained	-	NC_000014.9:g.105155987C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Arg165Gln	rs996880451	missense variant	-	NC_000014.9:g.105155971C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg165Ter	rs751347948	stop gained	-	NC_000014.9:g.105155972G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Ser167Leu	rs764065878	missense variant	-	NC_000014.9:g.105155965G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly170Ser	rs375734605	missense variant	-	NC_000014.9:g.105155957C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Met171Val	rs1329816871	missense variant	-	NC_000014.9:g.105155954T>C	gnomAD
JAG2	Q9Y219	p.Pro174Leu	rs764729652	missense variant	-	NC_000014.9:g.105155944G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu175Ala	rs1243678677	missense variant	-	NC_000014.9:g.105155941T>G	TOPMed
JAG2	Q9Y219	p.Arg177Pro	rs766691203	missense variant	-	NC_000014.9:g.105155935C>G	ExAC,gnomAD
JAG2	Q9Y219	p.Arg177His	rs766691203	missense variant	-	NC_000014.9:g.105155935C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg177Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105155936G>C	NCI-TCGA
JAG2	Q9Y219	p.Arg177Cys	rs776290172	missense variant	-	NC_000014.9:g.105155936G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Lys179Arg	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105155929T>C	NCI-TCGA
JAG2	Q9Y219	p.His182Arg	rs773498752	missense variant	-	NC_000014.9:g.105155920T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Ser184Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105155914C>T	NCI-TCGA
JAG2	Q9Y219	p.Gly185Ser	rs748673922	missense variant	-	NC_000014.9:g.105155912C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Val187Met	rs1331038208	missense variant	-	NC_000014.9:g.105155906C>T	gnomAD
JAG2	Q9Y219	p.Ala188Thr	rs1448629549	missense variant	-	NC_000014.9:g.105155903C>T	gnomAD
JAG2	Q9Y219	p.Ala188Val	rs749478757	missense variant	-	NC_000014.9:g.105155902G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.His189Tyr	rs756337109	missense variant	-	NC_000014.9:g.105155900G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu191Ala	rs746802504	missense variant	-	NC_000014.9:g.105155893T>G	ExAC,gnomAD
JAG2	Q9Y219	p.Leu192Val	rs1384032964	missense variant	-	NC_000014.9:g.105155891G>C	gnomAD
JAG2	Q9Y219	p.Ile194Met	rs200312179	missense variant	-	NC_000014.9:g.105155883G>C	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg195His	rs1389623306	missense variant	-	NC_000014.9:g.105155881C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg195Cys	rs1446530594	missense variant	-	NC_000014.9:g.105155882G>A	gnomAD
JAG2	Q9Y219	p.Val196Met	rs762674945	missense variant	-	NC_000014.9:g.105155879C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg197His	rs753388124	missense variant	-	NC_000014.9:g.105155875C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp199Glu	rs372506434	missense variant	-	NC_000014.9:g.105155868G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp199Glu	rs372506434	missense variant	-	NC_000014.9:g.105155868G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp199Asn	rs376948189	missense variant	-	NC_000014.9:g.105155870C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu200Gly	rs762325915	missense variant	-	NC_000014.9:g.105155866T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Glu200Lys	COSM1128305	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105155867C>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Ala205Thr	rs775767402	missense variant	-	NC_000014.9:g.105155852C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ala205Val	rs1283922642	missense variant	-	NC_000014.9:g.105155851G>A	gnomAD
JAG2	Q9Y219	p.Lys209Glu	rs1225059684	missense variant	-	NC_000014.9:g.105155840T>C	gnomAD
JAG2	Q9Y219	p.Arg212Trp	rs587724731	missense variant	-	NC_000014.9:g.105155831G>A	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Arg212Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105155830C>T	NCI-TCGA
JAG2	Q9Y219	p.Pro213Ser	rs1196090664	missense variant	-	NC_000014.9:g.105155828G>A	TOPMed
JAG2	Q9Y219	p.Arg214Cys	rs941391931	missense variant	-	NC_000014.9:g.105155825G>A	TOPMed
JAG2	Q9Y219	p.Arg214His	rs777565206	missense variant	-	NC_000014.9:g.105155824C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp216Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105155819C>A	NCI-TCGA
JAG2	Q9Y219	p.Asp216Asn	rs778791847	missense variant	-	NC_000014.9:g.105155819C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly219Ser	rs1364555362	missense variant	-	NC_000014.9:g.105155810C>T	gnomAD
JAG2	Q9Y219	p.Asp224Asn	rs779500604	missense variant	-	NC_000014.9:g.105155795C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gln225Arg	rs1185892415	missense variant	-	NC_000014.9:g.105155791T>C	gnomAD
JAG2	Q9Y219	p.Tyr226Phe	rs1246917762	missense variant	-	NC_000014.9:g.105155788T>A	gnomAD
JAG2	Q9Y219	p.Ala230Val	rs750060198	missense variant	-	NC_000014.9:g.105155776G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Ala230Ser	COSM6075205	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105155777C>A	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Met232Val	rs143241003	missense variant	-	NC_000014.9:g.105155771T>C	ESP,ExAC,gnomAD
JAG2	Q9Y219	p.Asp233His	rs1219572838	missense variant	-	NC_000014.9:g.105155768C>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Asp233Asn	rs1219572838	missense variant	-	NC_000014.9:g.105155768C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly234Ala	rs1218606856	missense variant	-	NC_000014.9:g.105155764C>G	gnomAD
JAG2	Q9Y219	p.Gly234Ser	rs764681336	missense variant	-	NC_000014.9:g.105155765C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Met236Val	rs763617840	missense variant	-	NC_000014.9:g.105155759T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Met236Ile	rs775644752	missense variant	-	NC_000014.9:g.105155757C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly237Asp	rs769776589	missense variant	-	NC_000014.9:g.105155755C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu239Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105155750C>G	NCI-TCGA
JAG2	Q9Y219	p.Glu242Lys	rs1266484163	missense variant	-	NC_000014.9:g.105155741C>T	TOPMed
JAG2	Q9Y219	p.Val244Leu	rs778233370	missense variant	-	NC_000014.9:g.105155620C>G	ExAC,gnomAD
JAG2	Q9Y219	p.Gly248Trp	rs758863578	missense variant	-	NC_000014.9:g.105155608C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly254ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105155580_105155590GTGCATCCCCC>-	NCI-TCGA
JAG2	Q9Y219	p.Gly254Arg	rs1381052440	missense variant	-	NC_000014.9:g.105155590C>T	TOPMed
JAG2	Q9Y219	p.Gly255AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105155586C>-	NCI-TCGA
JAG2	Q9Y219	p.Gly255Glu	rs755567951	missense variant	-	NC_000014.9:g.105155586C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Thr257Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105155581T>C	NCI-TCGA
JAG2	Q9Y219	p.Thr257Ile	COSM3494270	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105155580G>A	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Val258Met	rs766451706	missense variant	-	NC_000014.9:g.105155578C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly260Glu	rs1384762219	missense variant	-	NC_000014.9:g.105155571C>T	gnomAD
JAG2	Q9Y219	p.Glu261Ala	rs773450420	missense variant	-	NC_000014.9:g.105155568T>G	ExAC,gnomAD
JAG2	Q9Y219	p.Arg263Ser	rs1255775295	missense variant	-	NC_000014.9:g.105152291C>G	gnomAD
JAG2	Q9Y219	p.Ser265Asn	rs1228127573	missense variant	-	NC_000014.9:g.105152286C>T	gnomAD
JAG2	Q9Y219	p.Tyr266His	rs587732532	missense variant	-	NC_000014.9:g.105152284A>G	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Gly267Ser	rs1398238002	missense variant	-	NC_000014.9:g.105152281C>T	gnomAD
JAG2	Q9Y219	p.Asp274Asn	rs143376032	missense variant	-	NC_000014.9:g.105152260C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp274Val	rs780509714	missense variant	-	NC_000014.9:g.105152259T>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu275Gly	rs1323542723	missense variant	-	NC_000014.9:g.105152256T>C	gnomAD
JAG2	Q9Y219	p.Glu275Lys	rs756665068	missense variant	-	NC_000014.9:g.105152257C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Pro278Arg	rs1466654312	missense variant	-	NC_000014.9:g.105152247G>C	gnomAD
JAG2	Q9Y219	p.Gly281Ser	rs1377648342	missense variant	-	NC_000014.9:g.105152239C>T	gnomAD
JAG2	Q9Y219	p.Val283Met	rs375084155	missense variant	-	NC_000014.9:g.105152233C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser286Asn	rs371109067	missense variant	-	NC_000014.9:g.105152223C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser286Gly	rs1252478802	missense variant	-	NC_000014.9:g.105152224T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu289Lys	rs1363961305	missense variant	-	NC_000014.9:g.105152215C>T	TOPMed
JAG2	Q9Y219	p.Glu296Val	rs760763117	missense variant	-	NC_000014.9:g.105152193T>A	ExAC,gnomAD
JAG2	Q9Y219	p.Thr297Ile	rs61730146	missense variant	-	NC_000014.9:g.105152190G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly300Asp	rs905867492	missense variant	-	NC_000014.9:g.105152181C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly301Ser	rs147670846	missense variant	-	NC_000014.9:g.105152179C>T	1000Genomes,ExAC
JAG2	Q9Y219	p.Asp307Glu	rs777781345	missense variant	-	NC_000014.9:g.105152056G>T	ExAC
JAG2	Q9Y219	p.His314Tyr	rs920971798	missense variant	-	NC_000014.9:g.105152037G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro316Ser	rs748394533	missense variant	-	NC_000014.9:g.105152031G>A	ExAC
JAG2	Q9Y219	p.Pro316Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105152031G>T	NCI-TCGA
JAG2	Q9Y219	p.Cys317Phe	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105152027C>A	NCI-TCGA
JAG2	Q9Y219	p.Asn319Asp	rs1446414539	missense variant	-	NC_000014.9:g.105152022T>C	gnomAD
JAG2	Q9Y219	p.Gly320Arg	rs756008137	missense variant	-	NC_000014.9:g.105152019C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr322Arg	rs767469145	missense variant	-	NC_000014.9:g.105152012G>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr322Met	rs767469145	missense variant	-	NC_000014.9:g.105152012G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala326Ser	rs1412738203	missense variant	-	NC_000014.9:g.105152001C>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala326Thr	rs1412738203	missense variant	-	NC_000014.9:g.105152001C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala326Val	rs977973203	missense variant	-	NC_000014.9:g.105152000G>A	gnomAD
JAG2	Q9Y219	p.Glu327Lys	rs762540989	missense variant	-	NC_000014.9:g.105151998C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Glu327Gln	rs762540989	missense variant	-	NC_000014.9:g.105151998C>G	ExAC,gnomAD
JAG2	Q9Y219	p.Pro328Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105151995G>A	NCI-TCGA
JAG2	Q9Y219	p.Pro328Leu	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105151994G>A	NCI-TCGA
JAG2	Q9Y219	p.Pro328Thr	rs775152211	missense variant	-	NC_000014.9:g.105151995G>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gln330Lys	rs1261324215	missense variant	-	NC_000014.9:g.105151989G>T	gnomAD
JAG2	Q9Y219	p.Arg332Cys	rs776917434	missense variant	-	NC_000014.9:g.105151983G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Arg332His	rs587684377	missense variant	-	NC_000014.9:g.105151982C>T	1000Genomes,TOPMed
JAG2	Q9Y219	p.Arg332Gly	rs776917434	missense variant	-	NC_000014.9:g.105151983G>C	ExAC,gnomAD
JAG2	Q9Y219	p.Thr334Ser	rs1289580698	missense variant	-	NC_000014.9:g.105151976G>C	gnomAD
JAG2	Q9Y219	p.Pro336Ala	rs747476120	missense variant	-	NC_000014.9:g.105151971G>C	ExAC,gnomAD
JAG2	Q9Y219	p.Asp337Val	rs201502188	missense variant	-	NC_000014.9:g.105151967T>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly338Ser	rs140609711	missense variant	-	NC_000014.9:g.105151965C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly338Asp	rs779249026	missense variant	-	NC_000014.9:g.105151964C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Tyr339Ter	rs146825603	stop gained	-	NC_000014.9:g.105151960G>C	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser340Leu	rs144763428	missense variant	-	NC_000014.9:g.105151958G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg342Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105151952C>A	NCI-TCGA
JAG2	Q9Y219	p.Glu345Gly	rs757157699	missense variant	-	NC_000014.9:g.105151943T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Lys346Glu	rs751470399	missense variant	-	NC_000014.9:g.105151941T>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala347Val	rs758385958	missense variant	-	NC_000014.9:g.105151739G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Ala350Thr	rs917861839	missense variant	-	NC_000014.9:g.105151731C>T	gnomAD
JAG2	Q9Y219	p.Cys351Tyr	rs1381252367	missense variant	-	NC_000014.9:g.105151727C>T	gnomAD
JAG2	Q9Y219	p.Thr352Ile	rs1466626036	missense variant	-	NC_000014.9:g.105151724G>A	gnomAD
JAG2	Q9Y219	p.Asn354Asp	rs1288561615	missense variant	-	NC_000014.9:g.105151719T>C	TOPMed
JAG2	Q9Y219	p.Pro355Ser	rs992002678	missense variant	-	NC_000014.9:g.105151716G>A	TOPMed
JAG2	Q9Y219	p.Pro355Leu	rs959430916	missense variant	-	NC_000014.9:g.105151715G>A	gnomAD
JAG2	Q9Y219	p.Asn358Ser	rs753456166	missense variant	-	NC_000014.9:g.105151706T>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly359Arg	COSM4049526	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105151704C>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Gly360Asp	rs1258891191	missense variant	-	NC_000014.9:g.105151700C>T	gnomAD
JAG2	Q9Y219	p.Gly360Ser	rs1417634272	missense variant	-	NC_000014.9:g.105151701C>T	gnomAD
JAG2	Q9Y219	p.His363Pro	rs1182903017	missense variant	-	NC_000014.9:g.105151691T>G	TOPMed,gnomAD
JAG2	Q9Y219	p.His363Arg	rs1182903017	missense variant	-	NC_000014.9:g.105151691T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu364Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105151688T>G	NCI-TCGA
JAG2	Q9Y219	p.Glu364Gln	rs760917923	missense variant	-	NC_000014.9:g.105151689C>G	ExAC,gnomAD
JAG2	Q9Y219	p.Pro366Ser	rs1235214559	missense variant	-	NC_000014.9:g.105151683G>A	gnomAD
JAG2	Q9Y219	p.Pro366Leu	rs140813175	missense variant	-	NC_000014.9:g.105151682G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser367Pro	rs1285129786	missense variant	-	NC_000014.9:g.105151680A>G	gnomAD
JAG2	Q9Y219	p.Ser367Tyr	rs762480596	missense variant	-	NC_000014.9:g.105151679G>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly368Ser	rs199655385	missense variant	-	NC_000014.9:g.105151677C>T	1000Genomes,gnomAD
JAG2	Q9Y219	p.Glu370Lys	rs1378590783	missense variant	-	NC_000014.9:g.105151671C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.His372Gln	rs775542056	missense variant	-	NC_000014.9:g.105151663G>C	ExAC,gnomAD
JAG2	Q9Y219	p.Cys373Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.105151660G>T	NCI-TCGA
JAG2	Q9Y219	p.Ser375Leu	rs200420004	missense variant	-	NC_000014.9:g.105151655G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly379Arg	rs900639216	missense variant	-	NC_000014.9:g.105151644C>T	gnomAD
JAG2	Q9Y219	p.Ala383Val	rs748090676	missense variant	-	NC_000014.9:g.105151631G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Ile386Phe	rs957348837	missense variant	-	NC_000014.9:g.105151394T>A	TOPMed
JAG2	Q9Y219	p.Ile386Met	rs766629604	missense variant	-	NC_000014.9:g.105151392G>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ile386Thr	rs759627304	missense variant	-	NC_000014.9:g.105151393A>G	ExAC,gnomAD
JAG2	Q9Y219	p.Asp387Asn	rs761575707	missense variant	-	NC_000014.9:g.105151391C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ser391Leu	rs372331234	missense variant	-	NC_000014.9:g.105151378G>A	ESP,ExAC,gnomAD
JAG2	Q9Y219	p.Ser391Ala	rs749257698	missense variant	-	NC_000014.9:g.105151379A>C	ExAC,gnomAD
JAG2	Q9Y219	p.Ser391Trp	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105151378G>C	NCI-TCGA
JAG2	Q9Y219	p.Asn392Ser	rs924643940	missense variant	-	NC_000014.9:g.105151375T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Cys394Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105151369C>T	NCI-TCGA
JAG2	Q9Y219	p.Ala395Val	rs201180790	missense variant	-	NC_000014.9:g.105151366G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly397Ser	rs780967753	missense variant	-	NC_000014.9:g.105151361C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly398Val	rs1448245264	missense variant	-	NC_000014.9:g.105151357C>A	gnomAD
JAG2	Q9Y219	p.Asp402Glu	rs371092571	missense variant	-	NC_000014.9:g.105151344G>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gln403ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105151343G>-	NCI-TCGA
JAG2	Q9Y219	p.Gln403Glu	rs1360217815	missense variant	-	NC_000014.9:g.105151343G>C	gnomAD
JAG2	Q9Y219	p.Val404Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105151340C>T	NCI-TCGA
JAG2	Q9Y219	p.Val404Gly	rs1415695959	missense variant	-	NC_000014.9:g.105151339A>C	gnomAD
JAG2	Q9Y219	p.Asp405Asn	rs376912303	missense variant	-	NC_000014.9:g.105151337C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly406Ser	rs753268953	missense variant	-	NC_000014.9:g.105151334C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly406Asp	rs1486443143	missense variant	-	NC_000014.9:g.105151333C>T	-
JAG2	Q9Y219	p.Ile410Met	rs1438776049	missense variant	-	NC_000014.9:g.105151320G>C	gnomAD
JAG2	Q9Y219	p.Ile410Asn	rs765191436	missense variant	-	NC_000014.9:g.105151321A>T	ExAC,gnomAD
JAG2	Q9Y219	p.Cys411Ser	rs1231116264	missense variant	-	NC_000014.9:g.105151319A>T	gnomAD
JAG2	Q9Y219	p.Pro412Leu	rs1444233637	missense variant	-	NC_000014.9:g.105151315G>A	gnomAD
JAG2	Q9Y219	p.Glu413Gly	rs1303581545	missense variant	-	NC_000014.9:g.105151312T>C	TOPMed
JAG2	Q9Y219	p.Glu413Lys	rs753968927	missense variant	-	NC_000014.9:g.105151313C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ala418Thr	rs760956324	missense variant	-	NC_000014.9:g.105151298C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gln421His	rs587736476	missense variant	-	NC_000014.9:g.105151287C>A	1000Genomes,ExAC,TOPMed
JAG2	Q9Y219	p.Asp423Glu	rs144248956	missense variant	-	NC_000014.9:g.105151103G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asn425Ser	rs1373440249	missense variant	-	NC_000014.9:g.105151098T>C	TOPMed
JAG2	Q9Y219	p.Asn425Asp	rs1323844998	missense variant	-	NC_000014.9:g.105151099T>C	gnomAD
JAG2	Q9Y219	p.Glu426Gln	rs1413970538	missense variant	-	NC_000014.9:g.105151096C>G	TOPMed
JAG2	Q9Y219	p.Glu426Asp	rs1298677515	missense variant	-	NC_000014.9:g.105151094C>G	TOPMed
JAG2	Q9Y219	p.Glu426Val	rs1402621689	missense variant	-	NC_000014.9:g.105151095T>A	gnomAD
JAG2	Q9Y219	p.Gly429Arg	rs775949901	missense variant	-	NC_000014.9:g.105151087C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly429Glu	rs770339410	missense variant	-	NC_000014.9:g.105151086C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Lys430Ter	rs781134028	stop gained	-	NC_000014.9:g.105151084T>A	ExAC,gnomAD
JAG2	Q9Y219	p.Pro431Ser	rs1269150086	missense variant	-	NC_000014.9:g.105151081G>A	TOPMed
JAG2	Q9Y219	p.Cys432Arg	COSM697781	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105151078A>G	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Ala435Gly	rs1192363986	missense variant	-	NC_000014.9:g.105151068G>C	gnomAD
JAG2	Q9Y219	p.Ala435Thr	rs1278598790	missense variant	-	NC_000014.9:g.105151069C>T	TOPMed
JAG2	Q9Y219	p.Phe436Ile	rs1167125935	missense variant	-	NC_000014.9:g.105151066A>T	gnomAD
JAG2	Q9Y219	p.Ser437Tyr	rs778809657	missense variant	-	NC_000014.9:g.105151062G>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ser437Ala	rs1258220612	missense variant	-	NC_000014.9:g.105151063A>C	gnomAD
JAG2	Q9Y219	p.Lys439Glu	rs1305200699	missense variant	-	NC_000014.9:g.105151057T>C	gnomAD
JAG2	Q9Y219	p.Gly444Ser	rs367891113	missense variant	-	NC_000014.9:g.105151042C>T	ESP,ExAC,gnomAD
JAG2	Q9Y219	p.Pro451Gln	rs1039776082	missense variant	-	NC_000014.9:g.105151020G>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro451Ser	rs1377558417	missense variant	-	NC_000014.9:g.105151021G>A	gnomAD
JAG2	Q9Y219	p.Pro451Leu	rs1039776082	missense variant	-	NC_000014.9:g.105151020G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro451Ala	rs1377558417	missense variant	-	NC_000014.9:g.105151021G>C	gnomAD
JAG2	Q9Y219	p.Ile456Met	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105151004G>C	NCI-TCGA
JAG2	Q9Y219	p.Asn457Thr	rs761480204	missense variant	-	NC_000014.9:g.105151002T>G	ExAC,gnomAD
JAG2	Q9Y219	p.His459Tyr	rs1445781788	missense variant	-	NC_000014.9:g.105150997G>A	TOPMed
JAG2	Q9Y219	p.Val462Ile	rs1233996748	missense variant	-	NC_000014.9:g.105150909C>T	gnomAD
JAG2	Q9Y219	p.Asp464Asn	rs748437262	missense variant	-	NC_000014.9:g.105150903C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg466Cys	rs1402048628	missense variant	-	NC_000014.9:g.105150897G>A	gnomAD
JAG2	Q9Y219	p.Arg466Leu	rs769513887	missense variant	-	NC_000014.9:g.105150896C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg466His	rs769513887	missense variant	-	NC_000014.9:g.105150896C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly467Glu	rs757195573	missense variant	-	NC_000014.9:g.105150893C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly467Arg	rs780937932	missense variant	-	NC_000014.9:g.105150894C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gln468Arg	rs1293052766	missense variant	-	NC_000014.9:g.105150890T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Gln468Ter	rs1166222349	stop gained	-	NC_000014.9:g.105150891G>A	gnomAD
JAG2	Q9Y219	p.Cys469Arg	rs1474610391	missense variant	-	NC_000014.9:g.105150888A>G	gnomAD
JAG2	Q9Y219	p.Gln470Arg	rs751068742	missense variant	-	NC_000014.9:g.105150884T>C	ExAC,gnomAD
JAG2	Q9Y219	p.His471Tyr	rs1195457592	missense variant	-	NC_000014.9:g.105150882G>A	gnomAD
JAG2	Q9Y219	p.Gly473Ala	rs1323315012	missense variant	-	NC_000014.9:g.105150875C>G	TOPMed
JAG2	Q9Y219	p.Gly473AlaPheSerTerUnk	COSM1368668	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105150875C>-	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Thr474Ile	rs1051683761	missense variant	-	NC_000014.9:g.105150872G>A	TOPMed
JAG2	Q9Y219	p.Val479Leu	rs1391490907	missense variant	-	NC_000014.9:g.105150771C>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Val479Leu	rs1391490907	missense variant	-	NC_000014.9:g.105150771C>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly481Ala	rs766823184	missense variant	-	NC_000014.9:g.105150764C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly481Arg	rs754148151	missense variant	-	NC_000014.9:g.105150765C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Tyr482His	COSM1368667	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105150762A>G	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Cys486Arg	rs1239962238	missense variant	-	NC_000014.9:g.105150750A>G	gnomAD
JAG2	Q9Y219	p.Cys486Gly	rs1239962238	missense variant	-	NC_000014.9:g.105150750A>C	gnomAD
JAG2	Q9Y219	p.Cys486ProPheSerTerUnkUnk	COSM1368666	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105150749_105150750CA>-	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Pro487Ser	rs1438504072	missense variant	-	NC_000014.9:g.105150747G>A	gnomAD
JAG2	Q9Y219	p.Pro487Leu	rs1249879301	missense variant	-	NC_000014.9:g.105150746G>A	gnomAD
JAG2	Q9Y219	p.Arg488Gln	rs1281227558	missense variant	-	NC_000014.9:g.105150743C>T	gnomAD
JAG2	Q9Y219	p.Arg488Trp	rs140376952	missense variant	-	NC_000014.9:g.105150744G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly489Ser	rs768166044	missense variant	-	NC_000014.9:g.105150741C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly491Glu	rs774498617	missense variant	-	NC_000014.9:g.105150734C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly491Arg	rs1312142151	missense variant	-	NC_000014.9:g.105150735C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly492Asp	rs764222488	missense variant	-	NC_000014.9:g.105150731C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg493Gln	rs1011982956	missense variant	-	NC_000014.9:g.105150728C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg493Trp	rs763297305	missense variant	-	NC_000014.9:g.105150729G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg499Gln	rs1381901642	missense variant	-	NC_000014.9:g.105150710C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg499Ter	COSM4645179	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105150711G>A	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Asp500Gly	rs1469548310	missense variant	-	NC_000014.9:g.105150707T>C	gnomAD
JAG2	Q9Y219	p.Asp500His	rs1159121482	missense variant	-	NC_000014.9:g.105150708C>G	gnomAD
JAG2	Q9Y219	p.Glu501Lys	rs1057744	missense variant	-	NC_000014.9:g.105150705C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala503Ser	rs772011326	missense variant	-	NC_000014.9:g.105150699C>A	ExAC
JAG2	Q9Y219	p.Ala503Pro	rs772011326	missense variant	-	NC_000014.9:g.105150699C>G	ExAC
JAG2	Q9Y219	p.Ser505Thr	rs1258517864	missense variant	-	NC_000014.9:g.105150692C>G	gnomAD
JAG2	Q9Y219	p.Ser505Arg	rs1025522353	missense variant	-	NC_000014.9:g.105150691G>T	gnomAD
JAG2	Q9Y219	p.Cys507Trp	rs1303484850	missense variant	-	NC_000014.9:g.105150685G>C	gnomAD
JAG2	Q9Y219	p.His508Gln	rs587717161	missense variant	-	NC_000014.9:g.105150682G>C	1000Genomes
JAG2	Q9Y219	p.His508Tyr	rs370084908	missense variant	-	NC_000014.9:g.105150684G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser509Arg	rs374509372	missense variant	-	NC_000014.9:g.105150679G>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly510Ser	rs900977267	missense variant	-	NC_000014.9:g.105150678C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly511Ser	rs750836968	missense variant	-	NC_000014.9:g.105150675C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Glu514Gln	rs777136611	missense variant	-	NC_000014.9:g.105150666C>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu514Lys	rs777136611	missense variant	-	NC_000014.9:g.105150666C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Asp515Gly	rs1208478978	missense variant	-	NC_000014.9:g.105150662T>C	TOPMed
JAG2	Q9Y219	p.Leu516Val	rs764287178	missense variant	-	NC_000014.9:g.105150660G>C	ExAC,gnomAD
JAG2	Q9Y219	p.Asp518Tyr	rs775742241	missense variant	-	NC_000014.9:g.105150654C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp518Gly	rs1164879706	missense variant	-	NC_000014.9:g.105150653T>C	gnomAD
JAG2	Q9Y219	p.Asp518Asn	rs775742241	missense variant	-	NC_000014.9:g.105150654C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly519Ser	rs587681994	missense variant	-	NC_000014.9:g.105150651C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Phe520Leu	rs909935223	missense variant	-	NC_000014.9:g.105150646G>T	TOPMed,gnomAD
JAG2	Q9Y219	p.His521Tyr	rs760404529	missense variant	-	NC_000014.9:g.105150645G>A	ExAC,gnomAD
JAG2	Q9Y219	p.His523Gln	rs1455862219	missense variant	-	NC_000014.9:g.105150637G>C	TOPMed
JAG2	Q9Y219	p.Gly527Ser	rs1446734193	missense variant	-	NC_000014.9:g.105150627C>T	gnomAD
JAG2	Q9Y219	p.Leu532Phe	rs939614949	missense variant	-	NC_000014.9:g.105150612G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Leu532Arg	rs1334971589	missense variant	-	NC_000014.9:g.105150611A>C	gnomAD
JAG2	Q9Y219	p.Val535Met	rs775139710	missense variant	-	NC_000014.9:g.105149320C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp538Tyr	rs9972231	missense variant	-	NC_000014.9:g.105149311C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp538Asn	rs9972231	missense variant	-	NC_000014.9:g.105149311C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp538His	rs9972231	missense variant	-	NC_000014.9:g.105149311C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu539Ile	rs1175918632	missense variant	-	NC_000014.9:g.105149308G>T	gnomAD
JAG2	Q9Y219	p.Glu541Lys	rs747357583	missense variant	-	NC_000014.9:g.105149302C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu541Asp	rs1395030058	missense variant	-	NC_000014.9:g.105149300C>G	gnomAD
JAG2	Q9Y219	p.Glu541Gln	rs747357583	missense variant	-	NC_000014.9:g.105149302C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro542Leu	rs778287641	missense variant	-	NC_000014.9:g.105149298G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro542Ser	rs1464684116	missense variant	-	NC_000014.9:g.105149299G>A	TOPMed
JAG2	Q9Y219	p.Ser543Asn	rs758834030	missense variant	-	NC_000014.9:g.105149295C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg546Gln	rs754097964	missense variant	-	NC_000014.9:g.105149286C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg546Leu	rs754097964	missense variant	-	NC_000014.9:g.105149286C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg546Trp	rs755170630	missense variant	-	NC_000014.9:g.105149287G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asn547His	rs1346822922	missense variant	-	NC_000014.9:g.105149284T>G	gnomAD
JAG2	Q9Y219	p.Gly548Ser	rs761617021	missense variant	-	NC_000014.9:g.105149281C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala549Ser	rs139834065	missense variant	-	NC_000014.9:g.105149278C>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala549Thr	rs139834065	missense variant	-	NC_000014.9:g.105149278C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala549Gly	rs763048065	missense variant	-	NC_000014.9:g.105149277G>C	ExAC,gnomAD
JAG2	Q9Y219	p.Arg550Cys	rs1368959697	missense variant	-	NC_000014.9:g.105149275G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg550His	rs368871084	missense variant	-	NC_000014.9:g.105149274C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Cys551Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105149271C>T	NCI-TCGA
JAG2	Q9Y219	p.Tyr552Cys	rs764883919	missense variant	-	NC_000014.9:g.105149268T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Asn553Ser	rs759150807	missense variant	-	NC_000014.9:g.105149265T>C	ExAC
JAG2	Q9Y219	p.Leu554Met	rs770505012	missense variant	-	NC_000014.9:g.105149263G>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu555Gly	rs1300547753	missense variant	-	NC_000014.9:g.105149259T>C	TOPMed
JAG2	Q9Y219	p.Gly556Asp	rs150669646	missense variant	-	NC_000014.9:g.105149256C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly556Ser	rs747334360	missense variant	-	NC_000014.9:g.105149257C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp557Asn	rs1265833738	missense variant	-	NC_000014.9:g.105149254C>T	TOPMed
JAG2	Q9Y219	p.Asp557Gly	COSM6139822	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105149253T>C	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Cys560AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105149245A>-	NCI-TCGA
JAG2	Q9Y219	p.Ala561Val	rs755009089	missense variant	-	NC_000014.9:g.105149241G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala561Thr	rs778932650	missense variant	-	NC_000014.9:g.105149242C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp564His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105149233C>G	NCI-TCGA
JAG2	Q9Y219	p.Asp564Asn	COSM1293513	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105149233C>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Gly567Ala	rs1317445850	missense variant	-	NC_000014.9:g.105149223C>G	gnomAD
JAG2	Q9Y219	p.Gly567Cys	rs780261848	missense variant	-	NC_000014.9:g.105149224C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly567Arg	rs780261848	missense variant	-	NC_000014.9:g.105149224C>G	ExAC,gnomAD
JAG2	Q9Y219	p.Gly568Asp	rs1306124347	missense variant	-	NC_000014.9:g.105149220C>T	gnomAD
JAG2	Q9Y219	p.Lys569Glu	rs1223310872	missense variant	-	NC_000014.9:g.105149218T>C	gnomAD
JAG2	Q9Y219	p.Val573Leu	rs374569282	missense variant	-	NC_000014.9:g.105149206C>G	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val573Met	rs374569282	missense variant	-	NC_000014.9:g.105149206C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro574Leu	rs867096277	missense variant	-	NC_000014.9:g.105149202G>A	TOPMed
JAG2	Q9Y219	p.Arg575His	rs752646275	missense variant	-	NC_000014.9:g.105149199C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg575Cys	rs1375288713	missense variant	-	NC_000014.9:g.105149200G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu576Lys	rs202068896	missense variant	-	NC_000014.9:g.105149197C>T	gnomAD
JAG2	Q9Y219	p.Glu576Asp	rs776012109	missense variant	-	NC_000014.9:g.105149195C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Pro577Leu	rs1455218970	missense variant	-	NC_000014.9:g.105149193G>A	gnomAD
JAG2	Q9Y219	p.Pro579Ser	rs1347794537	missense variant	-	NC_000014.9:g.105149188G>A	gnomAD
JAG2	Q9Y219	p.Gly580Ala	rs1188286974	missense variant	-	NC_000014.9:g.105149184C>G	gnomAD
JAG2	Q9Y219	p.Gly581Arg	rs773603425	missense variant	-	NC_000014.9:g.105149182C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly581Glu	rs772466320	missense variant	-	NC_000014.9:g.105149181C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ala582Ser	rs748542274	missense variant	-	NC_000014.9:g.105149179C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala582Thr	rs748542274	missense variant	-	NC_000014.9:g.105149179C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val585Ala	rs755527510	missense variant	-	NC_000014.9:g.105149089A>G	ExAC,gnomAD
JAG2	Q9Y219	p.Val585Gly	rs755527510	missense variant	-	NC_000014.9:g.105149089A>C	ExAC,gnomAD
JAG2	Q9Y219	p.Ile586Thr	rs749960695	missense variant	-	NC_000014.9:g.105149086A>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ile586Val	rs1299575666	missense variant	-	NC_000014.9:g.105149087T>C	gnomAD
JAG2	Q9Y219	p.Ile586Met	rs142004780	missense variant	-	NC_000014.9:g.105149085G>C	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp587Asn	rs764488533	missense variant	-	NC_000014.9:g.105149084C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Cys589Tyr	rs1395642327	missense variant	-	NC_000014.9:g.105149077C>T	gnomAD
JAG2	Q9Y219	p.Gly590Arg	rs775816083	missense variant	-	NC_000014.9:g.105149075C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly590Glu	rs1033736151	missense variant	-	NC_000014.9:g.105149074C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Asp592Glu	rs200911938	missense variant	-	NC_000014.9:g.105149067G>C	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Asp592Val	rs1481082995	missense variant	-	NC_000014.9:g.105149068T>A	gnomAD
JAG2	Q9Y219	p.Ala593Thr	rs776919684	missense variant	-	NC_000014.9:g.105149066C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ala593Val	rs138503062	missense variant	-	NC_000014.9:g.105149065G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro595Ser	rs145627661	missense variant	-	NC_000014.9:g.105149060G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly596Arg	rs1308515148	missense variant	-	NC_000014.9:g.105149057C>T	gnomAD
JAG2	Q9Y219	p.Met597Ile	rs141987287	missense variant	-	NC_000014.9:g.105149052C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Met597Thr	rs768295543	missense variant	-	NC_000014.9:g.105149053A>G	ExAC,gnomAD
JAG2	Q9Y219	p.Pro598Arg	rs1305746851	missense variant	-	NC_000014.9:g.105149050G>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly599Ser	rs1436395219	missense variant	-	NC_000014.9:g.105149048C>T	gnomAD
JAG2	Q9Y219	p.Thr600Ile	rs369686885	missense variant	-	NC_000014.9:g.105149044G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr600Pro	rs756081648	missense variant	-	NC_000014.9:g.105149045T>G	ExAC,gnomAD
JAG2	Q9Y219	p.Ala601Val	rs1365397948	missense variant	-	NC_000014.9:g.105149041G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala602Val	rs902068343	missense variant	-	NC_000014.9:g.105149038G>A	TOPMed
JAG2	Q9Y219	p.Ala602Thr	rs756878817	missense variant	-	NC_000014.9:g.105149039C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly604Ser	rs201468009	missense variant	-	NC_000014.9:g.105149033C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly604Asp	rs758633950	missense variant	-	NC_000014.9:g.105149032C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Val605Leu	rs1020191973	missense variant	-	NC_000014.9:g.105149030C>A	gnomAD
JAG2	Q9Y219	p.Val605Met	rs1020191973	missense variant	-	NC_000014.9:g.105149030C>T	gnomAD
JAG2	Q9Y219	p.Cys606Arg	rs1239167077	missense variant	-	NC_000014.9:g.105149027A>G	gnomAD
JAG2	Q9Y219	p.Pro608Ala	rs888811590	missense variant	-	NC_000014.9:g.105149021G>C	TOPMed
JAG2	Q9Y219	p.His609Arg	rs776831662	missense variant	-	NC_000014.9:g.105149017T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Arg611Cys	rs1416221890	missense variant	-	NC_000014.9:g.105149012G>A	gnomAD
JAG2	Q9Y219	p.Arg611His	rs1355920809	missense variant	-	NC_000014.9:g.105149011C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Val613Ala	rs1387069904	missense variant	-	NC_000014.9:g.105149005A>G	gnomAD
JAG2	Q9Y219	p.Val613Ile	rs760867387	missense variant	-	NC_000014.9:g.105149006C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gln615His	rs1411299647	missense variant	-	NC_000014.9:g.105148998C>A	gnomAD
JAG2	Q9Y219	p.Pro616Leu	rs748968285	missense variant	-	NC_000014.9:g.105148996G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly618Asp	rs1297492974	missense variant	-	NC_000014.9:g.105148990C>T	TOPMed
JAG2	Q9Y219	p.Asn619Ile	rs769600514	missense variant	-	NC_000014.9:g.105148987T>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asn619Ser	rs769600514	missense variant	-	NC_000014.9:g.105148987T>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Phe620Ile	rs745852907	missense variant	-	NC_000014.9:g.105148985A>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp625Ala	rs1466040675	missense variant	-	NC_000014.9:g.105148969T>G	TOPMed
JAG2	Q9Y219	p.Asp625Asn	rs1441001145	missense variant	-	NC_000014.9:g.105148970C>T	gnomAD
JAG2	Q9Y219	p.Thr629Ile	rs756710036	missense variant	-	NC_000014.9:g.105148957G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Thr631Ile	rs1036126953	missense variant	-	NC_000014.9:g.105148951G>A	TOPMed
JAG2	Q9Y219	p.His634Arg	rs777344172	missense variant	-	NC_000014.9:g.105148942T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Glu635Asp	rs1232372334	missense variant	-	NC_000014.9:g.105148938C>G	gnomAD
JAG2	Q9Y219	p.Asn636Asp	rs1445576753	missense variant	-	NC_000014.9:g.105148937T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn636Ser	rs747877068	missense variant	-	NC_000014.9:g.105148858T>C	ExAC
JAG2	Q9Y219	p.Ile637Thr	rs778463008	missense variant	-	NC_000014.9:g.105148855A>G	ExAC,gnomAD
JAG2	Q9Y219	p.Ile637Val	rs1388889683	missense variant	-	NC_000014.9:g.105148856T>C	gnomAD
JAG2	Q9Y219	p.Asp639Asn	rs1245611798	missense variant	-	NC_000014.9:g.105148850C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro644Ser	rs754267020	missense variant	-	NC_000014.9:g.105148835G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Pro644Leu	COSM3494267	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105148834G>A	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Arg646Leu	rs750513994	missense variant	-	NC_000014.9:g.105148828C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg646His	rs750513994	missense variant	-	NC_000014.9:g.105148828C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg646Cys	rs1339757937	missense variant	-	NC_000014.9:g.105148829G>A	gnomAD
JAG2	Q9Y219	p.Asn647His	rs1309976434	missense variant	-	NC_000014.9:g.105148826T>G	TOPMed
JAG2	Q9Y219	p.Asn647Ser	rs1348737431	missense variant	-	NC_000014.9:g.105148825T>C	TOPMed
JAG2	Q9Y219	p.Gly648Glu	rs1274334288	missense variant	-	NC_000014.9:g.105148822C>T	gnomAD
JAG2	Q9Y219	p.Thr650Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105148817T>C	NCI-TCGA
JAG2	Q9Y219	p.Ile652Thr	rs1285010327	missense variant	-	NC_000014.9:g.105148810A>G	TOPMed
JAG2	Q9Y219	p.Asp653Asn	rs1308819366	missense variant	-	NC_000014.9:g.105148808C>T	gnomAD
JAG2	Q9Y219	p.Glu654Gly	rs770845911	missense variant	-	NC_000014.9:g.105148804T>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu654Asp	rs375091434	missense variant	-	NC_000014.9:g.105148803C>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val655Leu	rs1455079771	missense variant	-	NC_000014.9:g.105148802C>G	gnomAD
JAG2	Q9Y219	p.Ala657Ser	rs149164867	missense variant	-	NC_000014.9:g.105148796C>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala657Val	rs1470853101	missense variant	-	NC_000014.9:g.105148795G>A	gnomAD
JAG2	Q9Y219	p.Ala657Thr	rs149164867	missense variant	-	NC_000014.9:g.105148796C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg659Pro	rs747635489	missense variant	-	NC_000014.9:g.105148789C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg659Cys	rs771572871	missense variant	-	NC_000014.9:g.105148790G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Arg659His	rs747635489	missense variant	-	NC_000014.9:g.105148789C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Phe661Leu	rs1282186369	missense variant	-	NC_000014.9:g.105148784A>G	gnomAD
JAG2	Q9Y219	p.Ser664Arg	rs587721157	missense variant	-	NC_000014.9:g.105148773G>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly665Ser	rs768425653	missense variant	-	NC_000014.9:g.105148772C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Glu669Lys	rs756663404	missense variant	-	NC_000014.9:g.105148760C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu670Phe	rs1467312256	missense variant	-	NC_000014.9:g.105148757G>A	gnomAD
JAG2	Q9Y219	p.Asn674Asp	rs1466818903	missense variant	-	NC_000014.9:g.105148745T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn676Thr	rs1245827938	missense variant	-	NC_000014.9:g.105148433T>G	TOPMed
JAG2	Q9Y219	p.Asp677Asn	rs755882771	missense variant	-	NC_000014.9:g.105148431C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Cys678Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105148427C>T	NCI-TCGA
JAG2	Q9Y219	p.Pro682Ser	rs200708284	missense variant	-	NC_000014.9:g.105148416G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg686His	rs199665255	missense variant	-	NC_000014.9:g.105148403C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg688His	rs78154277	missense variant	-	NC_000014.9:g.105148397C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg688Ser	rs762580032	missense variant	-	NC_000014.9:g.105148398G>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg688Cys	rs762580032	missense variant	-	NC_000014.9:g.105148398G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Tyr690Cys	rs769580566	missense variant	-	NC_000014.9:g.105148391T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Asp691Asn	rs1036082565	missense variant	-	NC_000014.9:g.105148389C>T	TOPMed
JAG2	Q9Y219	p.Asn694Ser	rs1449795679	missense variant	-	NC_000014.9:g.105148379T>C	gnomAD
JAG2	Q9Y219	p.Ala699Val	rs373548790	missense variant	-	NC_000014.9:g.105148364G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp701Asn	rs192887377	missense variant	-	NC_000014.9:g.105148359C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp701Gly	rs1380949806	missense variant	-	NC_000014.9:g.105148358T>C	TOPMed
JAG2	Q9Y219	p.Asp702Glu	rs369752703	missense variant	-	NC_000014.9:g.105148354G>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp702Asn	rs1263849520	missense variant	-	NC_000014.9:g.105148356C>T	gnomAD
JAG2	Q9Y219	p.Gly703Ser	rs755220428	missense variant	-	NC_000014.9:g.105148353C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Trp704Ter	rs1297570405	stop gained	-	NC_000014.9:g.105148348C>T	gnomAD
JAG2	Q9Y219	p.Lys707Asn	rs1226816745	missense variant	-	NC_000014.9:g.105148339C>G	gnomAD
JAG2	Q9Y219	p.Thr708Pro	rs200164540	missense variant	-	NC_000014.9:g.105148338T>G	ExAC,gnomAD
JAG2	Q9Y219	p.His710Asp	rs767265013	missense variant	-	NC_000014.9:g.105148332G>C	ExAC,gnomAD
JAG2	Q9Y219	p.Arg712Ser	rs764146079	missense variant	-	NC_000014.9:g.105148326G>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg712Gly	rs764146079	missense variant	-	NC_000014.9:g.105148326G>C	ExAC,gnomAD
JAG2	Q9Y219	p.Arg712Cys	rs764146079	missense variant	-	NC_000014.9:g.105148326G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Glu713Lys	rs368186766	missense variant	-	NC_000014.9:g.105148227C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp717Asn	rs760964337	missense variant	-	NC_000014.9:g.105148215C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ala718Asp	rs865846454	missense variant	-	NC_000014.9:g.105148211G>T	gnomAD
JAG2	Q9Y219	p.Ala718Val	rs865846454	missense variant	-	NC_000014.9:g.105148211G>A	gnomAD
JAG2	Q9Y219	p.Thr720Ile	rs772553694	missense variant	-	NC_000014.9:g.105148205G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Ser722Gly	rs1457790153	missense variant	-	NC_000014.9:g.105148200T>C	gnomAD
JAG2	Q9Y219	p.Ser722Thr	rs1411544359	missense variant	-	NC_000014.9:g.105148199C>G	gnomAD
JAG2	Q9Y219	p.Gly724Ser	COSM1368663	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105148194C>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Tyr728His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105148182A>G	NCI-TCGA
JAG2	Q9Y219	p.Asp729Asn	rs748663129	missense variant	-	NC_000014.9:g.105148179C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Ser730Asn	rs932145268	missense variant	-	NC_000014.9:g.105148175C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly731Asp	rs1410536213	missense variant	-	NC_000014.9:g.105148172C>T	TOPMed
JAG2	Q9Y219	p.Thr733Ile	rs1351039543	missense variant	-	NC_000014.9:g.105148166G>A	TOPMed
JAG2	Q9Y219	p.Phe734Leu	rs1356866025	missense variant	-	NC_000014.9:g.105148164A>G	gnomAD
JAG2	Q9Y219	p.Arg735His	rs587744246	missense variant	-	NC_000014.9:g.105148160C>T	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Arg735Leu	rs587744246	missense variant	-	NC_000014.9:g.105148160C>A	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Arg735Cys	rs1242260489	missense variant	-	NC_000014.9:g.105148161G>A	gnomAD
JAG2	Q9Y219	p.Ala737Thr	rs746789751	missense variant	-	NC_000014.9:g.105148155C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro739Thr	rs1318854965	missense variant	-	NC_000014.9:g.105148149G>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro739Ser	rs1318854965	missense variant	-	NC_000014.9:g.105148149G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro740Ser	rs1391639850	missense variant	-	NC_000014.9:g.105148146G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro740Ala	rs1391639850	missense variant	-	NC_000014.9:g.105148146G>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly741Ser	rs587665180	missense variant	-	NC_000014.9:g.105148143C>T	1000Genomes,ExAC,TOPMed
JAG2	Q9Y219	p.Gly741ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105148143_105148144insG	NCI-TCGA
JAG2	Q9Y219	p.Gly741AlaPheSerTerUnkUnk	COSM1368662	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105148144G>-	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Ser745Asn	rs1471987814	missense variant	-	NC_000014.9:g.105148130C>T	gnomAD
JAG2	Q9Y219	p.Cys747Gly	rs1312757405	missense variant	-	NC_000014.9:g.105148125A>C	gnomAD
JAG2	Q9Y219	p.Ala748Gly	rs1245656148	missense variant	-	NC_000014.9:g.105148121G>C	gnomAD
JAG2	Q9Y219	p.Ala748Thr	rs587630711	missense variant	-	NC_000014.9:g.105148122C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val749Ile	rs778931774	missense variant	-	NC_000014.9:g.105148119C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala750Pro	rs1207872653	missense variant	-	NC_000014.9:g.105148116C>G	gnomAD
JAG2	Q9Y219	p.Ala750Thr	rs1207872653	missense variant	-	NC_000014.9:g.105148116C>T	gnomAD
JAG2	Q9Y219	p.Asn752Lys	rs1473371622	missense variant	-	NC_000014.9:g.105147881G>T	gnomAD
JAG2	Q9Y219	p.Ser754Thr	rs979740332	missense variant	-	NC_000014.9:g.105147876C>G	TOPMed
JAG2	Q9Y219	p.Pro757Leu	rs1489880506	missense variant	-	NC_000014.9:g.105147867G>A	TOPMed
JAG2	Q9Y219	p.Pro759Ser	rs767175421	missense variant	-	NC_000014.9:g.105147862G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Pro759Thr	rs767175421	missense variant	-	NC_000014.9:g.105147862G>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly764Ser	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105147847C>T	NCI-TCGA
JAG2	Q9Y219	p.Thr765Ile	rs1210704034	missense variant	-	NC_000014.9:g.105147843G>A	gnomAD
JAG2	Q9Y219	p.Val767Leu	rs757555592	missense variant	-	NC_000014.9:g.105147838C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val767Met	rs757555592	missense variant	-	NC_000014.9:g.105147838C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly770Glu	rs1289173904	missense variant	-	NC_000014.9:g.105147828C>T	gnomAD
JAG2	Q9Y219	p.Gly770Arg	rs999556315	missense variant	-	NC_000014.9:g.105147829C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala771Val	rs968375799	missense variant	-	NC_000014.9:g.105147825G>A	TOPMed
JAG2	Q9Y219	p.Phe773Leu	rs1371600882	missense variant	-	NC_000014.9:g.105147820A>G	gnomAD
JAG2	Q9Y219	p.Arg778Trp	rs1452922654	missense variant	-	NC_000014.9:g.105147805G>A	TOPMed
JAG2	Q9Y219	p.Arg778Gln	rs764502347	missense variant	-	NC_000014.9:g.105147804C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp779Asn	rs763566089	missense variant	-	NC_000014.9:g.105147802C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp779His	rs763566089	missense variant	-	NC_000014.9:g.105147802C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg784His	rs776936125	missense variant	-	NC_000014.9:g.105147786C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg784Gly	rs759715810	missense variant	-	NC_000014.9:g.105147787G>C	ExAC,gnomAD
JAG2	Q9Y219	p.Arg784Cys	rs759715810	missense variant	-	NC_000014.9:g.105147787G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Thr785Ile	rs1415685791	missense variant	-	NC_000014.9:g.105147783G>A	gnomAD
JAG2	Q9Y219	p.Thr785Ser	rs1415685791	missense variant	-	NC_000014.9:g.105147783G>C	gnomAD
JAG2	Q9Y219	p.Thr787Ser	rs1393483317	missense variant	-	NC_000014.9:g.105147777G>C	TOPMed
JAG2	Q9Y219	p.Asn789IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105147527T>-	NCI-TCGA
JAG2	Q9Y219	p.Thr790Ser	rs587604451	missense variant	-	NC_000014.9:g.105147524G>C	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Thr790Ile	rs587604451	missense variant	-	NC_000014.9:g.105147524G>A	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Asp792Asn	rs762673903	missense variant	-	NC_000014.9:g.105147519C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Pro795Leu	rs1427001306	missense variant	-	NC_000014.9:g.105147509G>A	gnomAD
JAG2	Q9Y219	p.Leu796Pro	rs1016254644	missense variant	-	NC_000014.9:g.105147506A>G	TOPMed
JAG2	Q9Y219	p.Pro797Leu	rs1334001012	missense variant	-	NC_000014.9:g.105147503G>A	gnomAD
JAG2	Q9Y219	p.Gly801Ser	rs1232151804	missense variant	-	NC_000014.9:g.105147404C>T	gnomAD
JAG2	Q9Y219	p.Cys804Phe	rs1234895620	missense variant	-	NC_000014.9:g.105147394C>A	TOPMed
JAG2	Q9Y219	p.Val805Phe	rs754355027	missense variant	-	NC_000014.9:g.105147392C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly807Ser	rs756157030	missense variant	-	NC_000014.9:g.105147386C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly807Cys	rs756157030	missense variant	-	NC_000014.9:g.105147386C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Val808Ile	rs757478096	missense variant	-	NC_000014.9:g.105147383C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val808Leu	rs757478096	missense variant	-	NC_000014.9:g.105147383C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg812Cys	rs1402726653	missense variant	-	NC_000014.9:g.105147371G>A	gnomAD
JAG2	Q9Y219	p.Arg812His	rs775717962	missense variant	-	NC_000014.9:g.105147370C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu814Lys	rs142542373	missense variant	-	NC_000014.9:g.105147365C>T	1000Genomes,ESP,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala816Pro	rs759349737	missense variant	-	NC_000014.9:g.105147359C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala816Val	rs776494612	missense variant	-	NC_000014.9:g.105147358G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro817Ser	rs1363736087	missense variant	-	NC_000014.9:g.105147356G>A	gnomAD
JAG2	Q9Y219	p.Ala820Val	rs148440032	missense variant	-	NC_000014.9:g.105147346G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala820Thr	rs760231337	missense variant	-	NC_000014.9:g.105147347C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg825His	rs747845875	missense variant	-	NC_000014.9:g.105147331C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg825Cys	rs1459726266	missense variant	-	NC_000014.9:g.105147332G>A	gnomAD
JAG2	Q9Y219	p.Ile826Phe	rs1208822278	missense variant	-	NC_000014.9:g.105147329T>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Ile826Val	rs1208822278	missense variant	-	NC_000014.9:g.105147329T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Ile828Val	rs1325900570	missense variant	-	NC_000014.9:g.105146722T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Asp829Asn	rs772751472	missense variant	-	NC_000014.9:g.105146719C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu830Lys	rs1160488192	missense variant	-	NC_000014.9:g.105146716C>T	TOPMed
JAG2	Q9Y219	p.Cys831Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.105146711_105146712insGCAGATTTTAGGAGCTTTTCTTTTTT	NCI-TCGA
JAG2	Q9Y219	p.Gln832Arg	rs766900929	missense variant	-	NC_000014.9:g.105146709T>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser833Phe	rs761428298	missense variant	-	NC_000014.9:g.105146706G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Ser834Leu	rs768425270	missense variant	-	NC_000014.9:g.105146703G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Cys836Tyr	rs1452046563	missense variant	-	NC_000014.9:g.105146697C>T	gnomAD
JAG2	Q9Y219	p.Ala837Asp	rs775775134	missense variant	-	NC_000014.9:g.105146694G>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala837Val	rs775775134	missense variant	-	NC_000014.9:g.105146694G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Tyr838His	rs1276348762	missense variant	-	NC_000014.9:g.105146692A>G	TOPMed
JAG2	Q9Y219	p.Tyr838Cys	rs770311465	missense variant	-	NC_000014.9:g.105146691T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Gly839Arg	rs781734780	missense variant	-	NC_000014.9:g.105146689C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr841Met	rs757271289	missense variant	-	NC_000014.9:g.105146682G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly848Arg	rs1346301021	missense variant	-	NC_000014.9:g.105146662C>T	gnomAD
JAG2	Q9Y219	p.Tyr849Ter	COSM3494266	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105146657A>C	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Arg850His	rs191336412	missense variant	-	NC_000014.9:g.105146655C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg850Cys	rs1303059425	missense variant	-	NC_000014.9:g.105146656G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Ser852Thr	rs1372762153	missense variant	-	NC_000014.9:g.105146649C>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro855Ser	rs755972228	missense variant	-	NC_000014.9:g.105146641G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly856Cys	rs761335978	missense variant	-	NC_000014.9:g.105146638C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly856Ser	rs761335978	missense variant	-	NC_000014.9:g.105146638C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly856Val	rs955582544	missense variant	-	NC_000014.9:g.105146637C>A	TOPMed
JAG2	Q9Y219	p.Arg857Gln	rs751178572	missense variant	-	NC_000014.9:g.105146634C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg857Gly	rs1478063128	missense variant	-	NC_000014.9:g.105146635G>C	gnomAD
JAG2	Q9Y219	p.Arg857Pro	rs751178572	missense variant	-	NC_000014.9:g.105146634C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly859Ser	rs762743592	missense variant	-	NC_000014.9:g.105146629C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro860Thr	rs1407223036	missense variant	-	NC_000014.9:g.105146626G>T	TOPMed
JAG2	Q9Y219	p.Pro860Leu	rs775891111	missense variant	-	NC_000014.9:g.105146625G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg861Trp	rs146384529	missense variant	-	NC_000014.9:g.105146623G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg861Gly	rs146384529	missense variant	-	NC_000014.9:g.105146623G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg861Gln	rs142270463	missense variant	-	NC_000014.9:g.105146622C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val865Met	rs1307810069	missense variant	-	NC_000014.9:g.105146611C>T	TOPMed
JAG2	Q9Y219	p.Ile866Met	rs369469630	missense variant	-	NC_000014.9:g.105146496G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ile866Phe	rs748270220	missense variant	-	NC_000014.9:g.105146498T>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly867Val	rs587610078	missense variant	-	NC_000014.9:g.105146494C>A	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Gly867Arg	rs1334041983	missense variant	-	NC_000014.9:g.105146495C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly869Arg	rs138786039	missense variant	-	NC_000014.9:g.105146489C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly869Trp	rs138786039	missense variant	-	NC_000014.9:g.105146489C>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg870Ile	rs143711692	missense variant	-	NC_000014.9:g.105146485C>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg870Lys	rs143711692	missense variant	-	NC_000014.9:g.105146485C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Trp873Arg	rs757781303	missense variant	-	NC_000014.9:g.105146477A>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Trp873Leu	rs1331582058	missense variant	-	NC_000014.9:g.105146476C>A	TOPMed
JAG2	Q9Y219	p.Ser874Phe	rs752320361	missense variant	-	NC_000014.9:g.105146473G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Arg875Gln	rs754709264	missense variant	-	NC_000014.9:g.105146470C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg875Trp	rs764784118	missense variant	-	NC_000014.9:g.105146471G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly876Asp	rs754173842	missense variant	-	NC_000014.9:g.105146467C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr877Asn	rs761052445	missense variant	-	NC_000014.9:g.105146464G>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr877Ile	rs761052445	missense variant	-	NC_000014.9:g.105146464G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro878Leu	rs150616867	missense variant	-	NC_000014.9:g.105146461G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Phe879Leu	rs1232600323	missense variant	-	NC_000014.9:g.105146457G>T	gnomAD
JAG2	Q9Y219	p.Gly882Arg	rs141886501	missense variant	-	NC_000014.9:g.105146450C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly882Ter	rs141886501	stop gained	-	NC_000014.9:g.105146450C>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser883Ile	rs1382590333	missense variant	-	NC_000014.9:g.105146446C>A	gnomAD
JAG2	Q9Y219	p.Trp885Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.105146439C>T	NCI-TCGA
JAG2	Q9Y219	p.Glu887ValPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105146434_105146435insTCCGGGAGGTGTGTCGCGGCCCGCTCGAA	NCI-TCGA
JAG2	Q9Y219	p.Glu887Lys	rs1261355063	missense variant	-	NC_000014.9:g.105146435C>T	TOPMed
JAG2	Q9Y219	p.Asp888Asn	rs775886072	missense variant	-	NC_000014.9:g.105146432C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp888Tyr	rs775886072	missense variant	-	NC_000014.9:g.105146432C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Ser891Asn	rs1046846804	missense variant	-	NC_000014.9:g.105146422C>T	gnomAD
JAG2	Q9Y219	p.Ser891Gly	rs746806161	missense variant	-	NC_000014.9:g.105146423T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Cys892Tyr	rs1423757449	missense variant	-	NC_000014.9:g.105146419C>T	gnomAD
JAG2	Q9Y219	p.Arg893His	rs758419917	missense variant	-	NC_000014.9:g.105146416C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp896Gly	rs1400858172	missense variant	-	NC_000014.9:g.105146407T>C	TOPMed
JAG2	Q9Y219	p.Asp896Tyr	rs1430552781	missense variant	-	NC_000014.9:g.105146408C>A	gnomAD
JAG2	Q9Y219	p.Gly897Asp	rs747590410	missense variant	-	NC_000014.9:g.105146404C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg898His	rs754481519	missense variant	-	NC_000014.9:g.105146401C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg898Cys	rs746879958	missense variant	-	NC_000014.9:g.105146402G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg899Cys	rs753441664	missense variant	-	NC_000014.9:g.105146399G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg899His	rs587624529	missense variant	-	NC_000014.9:g.105146398C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg899Leu	rs587624529	missense variant	-	NC_000014.9:g.105146398C>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp900Asn	rs1359142750	missense variant	-	NC_000014.9:g.105146396C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Ser902Thr	rs1231692659	missense variant	-	NC_000014.9:g.105146389C>G	TOPMed
JAG2	Q9Y219	p.Lys903Glu	rs1023504722	missense variant	-	NC_000014.9:g.105146387T>C	TOPMed
JAG2	Q9Y219	p.Cys906Gly	rs1436976805	missense variant	-	NC_000014.9:g.105145967A>C	TOPMed
JAG2	Q9Y219	p.Gly907Glu	rs1269928138	missense variant	-	NC_000014.9:g.105145963C>T	gnomAD
JAG2	Q9Y219	p.Leu912Gln	rs745492297	missense variant	-	NC_000014.9:g.105145948A>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly915Ser	rs751874102	missense variant	-	NC_000014.9:g.105145940C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly915Arg	rs751874102	missense variant	-	NC_000014.9:g.105145940C>G	ExAC,gnomAD
JAG2	Q9Y219	p.Glu918Lys	rs755712823	missense variant	-	NC_000014.9:g.105145931C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ala919Asp	rs1404064690	missense variant	-	NC_000014.9:g.105145927G>T	gnomAD
JAG2	Q9Y219	p.Leu920Val	rs199604226	missense variant	-	NC_000014.9:g.105145925G>C	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser921Asn	rs1237491267	missense variant	-	NC_000014.9:g.105145921C>T	TOPMed
JAG2	Q9Y219	p.Ala922Thr	rs754037075	missense variant	-	NC_000014.9:g.105145919C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala922Ser	rs754037075	missense variant	-	NC_000014.9:g.105145919C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro925Ser	rs766518139	missense variant	-	NC_000014.9:g.105145910G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly927Arg	rs1243373921	missense variant	-	NC_000014.9:g.105145904C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly927Trp	rs1243373921	missense variant	-	NC_000014.9:g.105145904C>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro935Leu	rs1437975309	missense variant	-	NC_000014.9:g.105145879G>A	TOPMed
JAG2	Q9Y219	p.Arg940Gln	rs774068774	missense variant	-	NC_000014.9:g.105145864C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro941Ser	rs1205605756	missense variant	-	NC_000014.9:g.105145862G>A	gnomAD
JAG2	Q9Y219	p.Trp946Arg	rs202211653	missense variant	-	NC_000014.9:g.105145847A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly947Arg	rs1392028875	missense variant	-	NC_000014.9:g.105145844C>T	TOPMed
JAG2	Q9Y219	p.Gly947Trp	rs1392028875	missense variant	-	NC_000014.9:g.105145844C>A	TOPMed
JAG2	Q9Y219	p.Glu948Val	rs1332027915	missense variant	-	NC_000014.9:g.105145840T>A	TOPMed
JAG2	Q9Y219	p.Glu948Gln	rs1258673957	missense variant	-	NC_000014.9:g.105145841C>G	gnomAD
JAG2	Q9Y219	p.Gly950Ser	rs775434840	missense variant	-	NC_000014.9:g.105145835C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala951Thr	rs145737381	missense variant	-	NC_000014.9:g.105145832C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala951Val	rs200465659	missense variant	-	NC_000014.9:g.105145831G>A	1000Genomes,gnomAD
JAG2	Q9Y219	p.Pro955Leu	rs1383211824	missense variant	-	NC_000014.9:g.105145819G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Pro955Ala	rs182661733	missense variant	-	NC_000014.9:g.105145820G>C	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser956Asn	rs770556119	missense variant	-	NC_000014.9:g.105145816C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Thr957Ile	rs1260587983	missense variant	-	NC_000014.9:g.105145813G>A	TOPMed
JAG2	Q9Y219	p.Thr957Pro	rs778324943	missense variant	-	NC_000014.9:g.105145814T>G	ExAC,gnomAD
JAG2	Q9Y219	p.Thr957Ser	rs778324943	missense variant	-	NC_000014.9:g.105145814T>A	ExAC,gnomAD
JAG2	Q9Y219	p.Pro958His	rs1442428691	missense variant	-	NC_000014.9:g.105145810G>T	gnomAD
JAG2	Q9Y219	p.Pro958Ser	rs1162498886	missense variant	-	NC_000014.9:g.105145811G>A	gnomAD
JAG2	Q9Y219	p.Cys959Tyr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105145807C>T	NCI-TCGA
JAG2	Q9Y219	p.Pro961Gln	rs1243293784	missense variant	-	NC_000014.9:g.105145801G>T	gnomAD
JAG2	Q9Y219	p.Arg962Cys	rs758867523	missense variant	-	NC_000014.9:g.105145799G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg962His	rs748620925	missense variant	-	NC_000014.9:g.105145798C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser963Phe	rs779579101	missense variant	-	NC_000014.9:g.105145795G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly964Ser	rs753936530	missense variant	-	NC_000014.9:g.105145793C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.His965Asp	rs766606501	missense variant	-	NC_000014.9:g.105145790G>C	ExAC,gnomAD
JAG2	Q9Y219	p.His965Gln	rs1245464956	missense variant	-	NC_000014.9:g.105145788G>T	gnomAD
JAG2	Q9Y219	p.Asp967Asn	rs1354523387	missense variant	-	NC_000014.9:g.105145784C>T	gnomAD
JAG2	Q9Y219	p.Asn968Ser	rs984462286	missense variant	-	NC_000014.9:g.105145780T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn968Asp	rs909866657	missense variant	-	NC_000014.9:g.105145781T>C	gnomAD
JAG2	Q9Y219	p.Ala971Gly	rs1460790426	missense variant	-	NC_000014.9:g.105145771G>C	TOPMed
JAG2	Q9Y219	p.Arg972His	rs372934981	missense variant	-	NC_000014.9:g.105145768C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg972Cys	rs756335426	missense variant	-	NC_000014.9:g.105145769G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Leu975Trp	rs1408169039	missense variant	-	NC_000014.9:g.105145759A>C	TOPMed
JAG2	Q9Y219	p.His976Tyr	rs762758439	missense variant	-	NC_000014.9:g.105145757G>A	ExAC,gnomAD
JAG2	Q9Y219	p.His976Arg	rs1474785813	missense variant	-	NC_000014.9:g.105145756T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn978Ser	rs976541906	missense variant	-	NC_000014.9:g.105145750T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn978Thr	rs976541906	missense variant	-	NC_000014.9:g.105145750T>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg979His	rs368191747	missense variant	-	NC_000014.9:g.105145747C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg979Cys	rs202178182	missense variant	-	NC_000014.9:g.105145748G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.His981Arg	rs759082162	missense variant	-	NC_000014.9:g.105145741T>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val982Met	rs770587327	missense variant	-	NC_000014.9:g.105145739C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val982Leu	rs770587327	missense variant	-	NC_000014.9:g.105145739C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr987Met	rs757532862	missense variant	-	NC_000014.9:g.105145054G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly989Asp	rs778532598	missense variant	-	NC_000014.9:g.105145048C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ala990Ser	rs766346968	missense variant	-	NC_000014.9:g.105145046C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala990Thr	rs766346968	missense variant	-	NC_000014.9:g.105145046C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ile991Val	rs146100994	missense variant	-	NC_000014.9:g.105145043T>C	ESP,ExAC,gnomAD
JAG2	Q9Y219	p.Ser993Pro	rs750015398	missense variant	-	NC_000014.9:g.105145037A>G	ExAC,gnomAD
JAG2	Q9Y219	p.Ser993Cys	COSM1300440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105145036G>C	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Gly994Glu	rs774174242	missense variant	-	NC_000014.9:g.105145033C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly994Arg	rs761595269	missense variant	-	NC_000014.9:g.105145034C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg996His	rs1486931022	missense variant	-	NC_000014.9:g.105145027C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg996Cys	rs1180201065	missense variant	-	NC_000014.9:g.105145028G>A	gnomAD
JAG2	Q9Y219	p.Arg996Ser	COSM953954	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105145028G>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Ser997Phe	rs1243186714	missense variant	-	NC_000014.9:g.105145024G>A	gnomAD
JAG2	Q9Y219	p.Ala1000Thr	rs587710446	missense variant	-	NC_000014.9:g.105145016C>T	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Ala1000Val	rs587645520	missense variant	-	NC_000014.9:g.105145015G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1006Leu	rs745934867	missense variant	-	NC_000014.9:g.105144997C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Arg1006Trp	rs1358299413	missense variant	-	NC_000014.9:g.105144998G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1006Gln	rs745934867	missense variant	-	NC_000014.9:g.105144997C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp1007Gly	rs781297936	missense variant	-	NC_000014.9:g.105144994T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Arg1008Cys	rs771031914	missense variant	-	NC_000014.9:g.105144992G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1008Pro	rs141025821	missense variant	-	NC_000014.9:g.105144991C>G	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1008His	rs141025821	missense variant	-	NC_000014.9:g.105144991C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu1009Arg	rs754665342	missense variant	-	NC_000014.9:g.105144988A>C	ExAC,gnomAD
JAG2	Q9Y219	p.Val1011Met	rs753736786	missense variant	-	NC_000014.9:g.105144983C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Asp1015Asn	rs1163025278	missense variant	-	NC_000014.9:g.105144971C>T	gnomAD
JAG2	Q9Y219	p.Arg1016Leu	rs749917276	missense variant	-	NC_000014.9:g.105144967C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Arg1016Gln	rs749917276	missense variant	-	NC_000014.9:g.105144967C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg1016Trp	rs140173764	missense variant	-	NC_000014.9:g.105144968G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1017Thr	rs1193528075	missense variant	-	NC_000014.9:g.105144965C>T	gnomAD
JAG2	Q9Y219	p.Ala1017Val	rs767092332	missense variant	-	NC_000014.9:g.105144964G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1017Ser	rs1193528075	missense variant	-	NC_000014.9:g.105144965C>A	gnomAD
JAG2	Q9Y219	p.Ser1018Tyr	rs751112793	missense variant	-	NC_000014.9:g.105144961G>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ser1019Leu	rs189467562	missense variant	-	NC_000014.9:g.105144958G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1020Glu	rs757259650	missense variant	-	NC_000014.9:g.105144955C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1021Thr	rs1216662123	missense variant	-	NC_000014.9:g.105144953C>T	gnomAD
JAG2	Q9Y219	p.Ala1023Asp	rs765640374	missense variant	-	NC_000014.9:g.105144946G>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1024Met	rs777145814	missense variant	-	NC_000014.9:g.105144944C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1026Ala	rs770942049	missense variant	-	NC_000014.9:g.105144937A>G	ExAC
JAG2	Q9Y219	p.Ala1027Val	rs1302400001	missense variant	-	NC_000014.9:g.105144934G>A	gnomAD
JAG2	Q9Y219	p.Val1028Met	rs773304550	missense variant	-	NC_000014.9:g.105144932C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser1029Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105143637G>C	NCI-TCGA
JAG2	Q9Y219	p.Ser1029Phe	rs781269054	missense variant	-	NC_000014.9:g.105143637G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Ser1031Ile	rs757320473	missense variant	-	NC_000014.9:g.105143631C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Ser1031Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105143632T>C	NCI-TCGA
JAG2	Q9Y219	p.Ser1031Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105143631C>T	NCI-TCGA
JAG2	Q9Y219	p.Pro1032Leu	rs1337494887	missense variant	-	NC_000014.9:g.105143628G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Asp1035Glu	rs201228243	missense variant	-	NC_000014.9:g.105143618G>C	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp1035Glu	rs201228243	missense variant	-	NC_000014.9:g.105143618G>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1037Leu	rs1481395158	missense variant	-	NC_000014.9:g.105143613G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Asp1038Gly	rs777383583	missense variant	-	NC_000014.9:g.105143610T>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser1039Gly	rs1251489881	missense variant	-	NC_000014.9:g.105143608T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Gln1043ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105143596G>-	NCI-TCGA
JAG2	Q9Y219	p.Gly1044Cys	rs111358108	missense variant	-	NC_000014.9:g.105143593C>A	gnomAD
JAG2	Q9Y219	p.Gly1044Ser	rs111358108	missense variant	-	NC_000014.9:g.105143593C>T	gnomAD
JAG2	Q9Y219	p.Ala1045Thr	rs369465389	missense variant	-	NC_000014.9:g.105143590C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1045Val	rs587730186	missense variant	-	NC_000014.9:g.105143589G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1048Val	rs1487821709	missense variant	-	NC_000014.9:g.105143580G>A	gnomAD
JAG2	Q9Y219	p.Ala1048Thr	rs587678193	missense variant	-	NC_000014.9:g.105143581C>T	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Ala1048Ser	rs587678193	missense variant	-	NC_000014.9:g.105143581C>A	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Ile1049Val	rs1356689695	missense variant	-	NC_000014.9:g.105143578T>C	TOPMed
JAG2	Q9Y219	p.Val1050Leu	rs1238179652	missense variant	-	NC_000014.9:g.105143575C>A	gnomAD
JAG2	Q9Y219	p.Val1050Met	rs1238179652	missense variant	-	NC_000014.9:g.105143575C>T	gnomAD
JAG2	Q9Y219	p.Ala1051Thr	rs1361876209	missense variant	-	NC_000014.9:g.105143572C>T	gnomAD
JAG2	Q9Y219	p.Ala1051Val	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105143571G>A	NCI-TCGA
JAG2	Q9Y219	p.Ala1052Thr	rs374324090	missense variant	-	NC_000014.9:g.105143569C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ile1053Thr	rs1383304913	missense variant	-	NC_000014.9:g.105143565A>G	gnomAD
JAG2	Q9Y219	p.Ile1053Val	rs774645077	missense variant	-	NC_000014.9:g.105143566T>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gln1055Arg	rs759390792	missense variant	-	NC_000014.9:g.105143559T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Arg1056Pro	rs376433872	missense variant	-	NC_000014.9:g.105143556C>G	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1056Gln	rs376433872	missense variant	-	NC_000014.9:g.105143556C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1056Trp	rs371312658	missense variant	-	NC_000014.9:g.105143557G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1058Lys	rs1375655500	missense variant	-	NC_000014.9:g.105143549G>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1058Ser	rs1038385976	missense variant	-	NC_000014.9:g.105143550T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1058Thr	rs1038385976	missense variant	-	NC_000014.9:g.105143550T>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1058His	rs1471508403	missense variant	-	NC_000014.9:g.105143551T>G	gnomAD
JAG2	Q9Y219	p.Ser1060Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.105143544G>C	NCI-TCGA
JAG2	Q9Y219	p.Leu1061Val	rs1193759039	missense variant	-	NC_000014.9:g.105143542G>C	gnomAD
JAG2	Q9Y219	p.Leu1062Phe	rs373487292	missense variant	-	NC_000014.9:g.105143539G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu1063Val	rs771544324	missense variant	-	NC_000014.9:g.105143536G>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu1063Gln	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105143535A>T	NCI-TCGA
JAG2	Q9Y219	p.Ala1064Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105143533C>T	NCI-TCGA
JAG2	Q9Y219	p.Thr1066Ala	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105143527T>C	NCI-TCGA
JAG2	Q9Y219	p.Glu1067Lys	rs778525933	missense variant	-	NC_000014.9:g.105143524C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Glu1067Ala	rs1428168902	missense variant	-	NC_000014.9:g.105143523T>G	TOPMed
JAG2	Q9Y219	p.Val1068Ala	rs754677092	missense variant	-	NC_000014.9:g.105143520A>G	ExAC,gnomAD
JAG2	Q9Y219	p.Val1070Met	rs754173852	missense variant	-	NC_000014.9:g.105143515C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr1072Met	rs117293701	missense variant	-	NC_000014.9:g.105143508G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1073Asp	rs1185374104	missense variant	-	NC_000014.9:g.105143505A>T	gnomAD
JAG2	Q9Y219	p.Val1073Phe	rs750880813	missense variant	-	NC_000014.9:g.105143506C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1074Ile	rs1407130137	missense variant	-	NC_000014.9:g.105143503C>T	gnomAD
JAG2	Q9Y219	p.Thr1075Met	rs74913644	missense variant	-	NC_000014.9:g.105143499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr1075Arg	rs74913644	missense variant	-	NC_000014.9:g.105143499G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1076Asp	rs1397950498	missense variant	-	NC_000014.9:g.105143496C>T	gnomAD
JAG2	Q9Y219	p.Gly1076Ser	rs78487156	missense variant	-	NC_000014.9:g.105143497C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1077Ser	rs201660730	missense variant	-	NC_000014.9:g.105143494C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ser1078Pro	rs1472208009	missense variant	-	NC_000014.9:g.105143491A>G	TOPMed
JAG2	Q9Y219	p.Ser1079Pro	rs199934719	missense variant	-	NC_000014.9:g.105143488A>G	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr1080Ala	rs973272911	missense variant	-	NC_000014.9:g.105143485T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1081Val	rs905567983	missense variant	-	NC_000014.9:g.105143170C>A	TOPMed
JAG2	Q9Y219	p.Leu1082Arg	rs1378493237	missense variant	-	NC_000014.9:g.105143167A>C	gnomAD
JAG2	Q9Y219	p.Val1084Met	rs769393291	missense variant	-	NC_000014.9:g.105143162C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1084Leu	rs769393291	missense variant	-	NC_000014.9:g.105143162C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1085His	rs1388133417	missense variant	-	NC_000014.9:g.105143158G>T	TOPMed
JAG2	Q9Y219	p.Val1086Met	rs746223998	missense variant	-	NC_000014.9:g.105143156C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly1089Ser	rs587682736	missense variant	-	NC_000014.9:g.105143147C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1089Cys	rs587682736	missense variant	-	NC_000014.9:g.105143147C>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1093Met	rs778429234	missense variant	-	NC_000014.9:g.105143135C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Trp1095Ter	rs1228383717	stop gained	-	NC_000014.9:g.105143127C>T	gnomAD
JAG2	Q9Y219	p.Ala1097Gly	rs200121636	missense variant	-	NC_000014.9:g.105143122G>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1097Val	rs200121636	missense variant	-	NC_000014.9:g.105143122G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Cys1098Trp	rs767164769	missense variant	-	NC_000014.9:g.105143118G>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Cys1098Gly	rs754118913	missense variant	-	NC_000014.9:g.105143120A>C	ExAC,gnomAD
JAG2	Q9Y219	p.Val1099Met	rs761606083	missense variant	-	NC_000014.9:g.105143117C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu1101Pro	rs774210756	missense variant	-	NC_000014.9:g.105143110A>G	ExAC,gnomAD
JAG2	Q9Y219	p.Cys1102Tyr	rs764089423	missense variant	-	NC_000014.9:g.105143107C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Val1103Leu	rs774914201	missense variant	-	NC_000014.9:g.105143105C>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1103Met	rs774914201	missense variant	-	NC_000014.9:g.105143105C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Trp1104Arg	rs1487170881	missense variant	-	NC_000014.9:g.105143102A>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Thr1106Lys	rs1286798865	missense variant	-	NC_000014.9:g.105143095G>T	gnomAD
JAG2	Q9Y219	p.Arg1107Cys	rs1413207667	missense variant	-	NC_000014.9:g.105143093G>A	gnomAD
JAG2	Q9Y219	p.Arg1109His	rs1476682844	missense variant	-	NC_000014.9:g.105143086C>T	gnomAD
JAG2	Q9Y219	p.Arg1109Leu	rs1476682844	missense variant	-	NC_000014.9:g.105143086C>A	gnomAD
JAG2	Q9Y219	p.Arg1109Cys	rs1180573403	missense variant	-	NC_000014.9:g.105143087G>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1110Lys	rs375610143	missense variant	-	NC_000014.9:g.105143083C>T	ESP,ExAC,gnomAD
JAG2	Q9Y219	p.Arg1113Leu	rs377407573	missense variant	-	NC_000014.9:g.105143074C>A	ESP,ExAC,gnomAD
JAG2	Q9Y219	p.Arg1113Trp	rs370798389	missense variant	-	NC_000014.9:g.105143075G>A	ESP,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1113Gln	rs377407573	missense variant	-	NC_000014.9:g.105143074C>T	ESP,ExAC,gnomAD
JAG2	Q9Y219	p.Glu1114Lys	rs373863344	missense variant	-	NC_000014.9:g.105143072C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1115Lys	rs1468186034	missense variant	-	NC_000014.9:g.105143068C>T	TOPMed
JAG2	Q9Y219	p.Ser1116Arg	rs933320740	missense variant	-	NC_000014.9:g.105143064G>C	TOPMed
JAG2	Q9Y219	p.Arg1117Gln	rs747444035	missense variant	-	NC_000014.9:g.105143062C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Arg1117Trp	rs34728766	missense variant	-	NC_000014.9:g.105143063G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1119Leu	rs772753236	missense variant	-	NC_000014.9:g.105143056G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1120Trp	rs778816523	missense variant	-	NC_000014.9:g.105143054G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1120Gln	rs1397898845	missense variant	-	NC_000014.9:g.105143053C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu1121Gly	rs1303893484	missense variant	-	NC_000014.9:g.105143050T>C	TOPMed
JAG2	Q9Y219	p.Ser1123Asn	rs753945130	missense variant	-	NC_000014.9:g.105143044C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Ser1123Arg	rs755104757	missense variant	-	NC_000014.9:g.105143045T>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1124Thr	rs757044739	missense variant	-	NC_000014.9:g.105143042C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1125Asp	rs1297005094	missense variant	-	NC_000014.9:g.105143039T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1125Ser	rs751416485	missense variant	-	NC_000014.9:g.105143038T>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1126Asp	rs763999701	missense variant	-	NC_000014.9:g.105143036T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Gln1127Lys	rs762920437	missense variant	-	NC_000014.9:g.105143033G>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gln1127His	rs1193642982	missense variant	-	NC_000014.9:g.105143031C>G	gnomAD
JAG2	Q9Y219	p.Gln1127Ter	NCI-TCGA novel	stop gained	-	NC_000014.9:g.105143033G>A	NCI-TCGA
JAG2	Q9Y219	p.Trp1128Ser	rs1396385175	missense variant	-	NC_000014.9:g.105143029C>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1129Gly	rs1488945744	missense variant	-	NC_000014.9:g.105143026G>C	TOPMed
JAG2	Q9Y219	p.Pro1130Ala	rs1477030485	missense variant	-	NC_000014.9:g.105143024G>C	gnomAD
JAG2	Q9Y219	p.Pro1130Leu	rs752712856	missense variant	-	NC_000014.9:g.105143023G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu1131Phe	rs759100589	missense variant	-	NC_000014.9:g.105143021G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1133Ala	rs1318070474	missense variant	-	NC_000014.9:g.105143015G>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1135Cys	rs1257319943	missense variant	-	NC_000014.9:g.105143009G>A	gnomAD
JAG2	Q9Y219	p.Arg1135Leu	rs1216756119	missense variant	-	NC_000014.9:g.105143008C>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1135His	rs1216756119	missense variant	-	NC_000014.9:g.105143008C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1136Asp	rs776143085	missense variant	-	NC_000014.9:g.105143006T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Asn1136Ser	rs1387501640	missense variant	-	NC_000014.9:g.105143005T>C	gnomAD
JAG2	Q9Y219	p.Ile1138Thr	rs1292064765	missense variant	-	NC_000014.9:g.105142999A>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu1139Lys	rs370666714	missense variant	-	NC_000014.9:g.105142997C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1140Gln	rs587669755	missense variant	-	NC_000014.9:g.105142993C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1140Trp	rs772593683	missense variant	-	NC_000014.9:g.105142994G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1141Leu	rs779483702	missense variant	-	NC_000014.9:g.105142990G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1142Ala	rs756380706	missense variant	-	NC_000014.9:g.105142987C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1142Glu	rs756380706	missense variant	-	NC_000014.9:g.105142987C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1142Arg	rs146037139	missense variant	-	NC_000014.9:g.105142988C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1143Ser	rs777506869	missense variant	-	NC_000014.9:g.105142985C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Gly1143Cys	rs777506869	missense variant	-	NC_000014.9:g.105142985C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gly1143Val	rs967567074	missense variant	-	NC_000014.9:g.105142984C>A	gnomAD
JAG2	Q9Y219	p.Gly1143Asp	rs967567074	missense variant	-	NC_000014.9:g.105142984C>T	gnomAD
JAG2	Q9Y219	p.His1144Arg	rs1484198188	missense variant	-	NC_000014.9:g.105142981T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.His1144Leu	rs1484198188	missense variant	-	NC_000014.9:g.105142981T>A	TOPMed,gnomAD
JAG2	Q9Y219	p.His1144Tyr	rs1020953248	missense variant	-	NC_000014.9:g.105142982G>A	TOPMed
JAG2	Q9Y219	p.Lys1145Glu	rs1256587490	missense variant	-	NC_000014.9:g.105142979T>C	gnomAD
JAG2	Q9Y219	p.Asp1146Asn	rs1232245948	missense variant	-	NC_000014.9:g.105142976C>T	gnomAD
JAG2	Q9Y219	p.Val1147Met	rs377350298	missense variant	-	NC_000014.9:g.105142973C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu1148Phe	rs765224829	missense variant	-	NC_000014.9:g.105142970G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Gln1150His	rs142271414	missense variant	-	NC_000014.9:g.105142962C>A	ESP,TOPMed,gnomAD
JAG2	Q9Y219	p.Cys1151Phe	rs1445122641	missense variant	-	NC_000014.9:g.105142960C>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Lys1152Arg	rs1174952113	missense variant	-	NC_000014.9:g.105142957T>C	TOPMed
JAG2	Q9Y219	p.Lys1152Asn	rs753436376	missense variant	-	NC_000014.9:g.105142956C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1153Lys	rs766097766	missense variant	-	NC_000014.9:g.105142953G>T	ExAC,gnomAD
JAG2	Q9Y219	p.Thr1155Arg	rs587770280	missense variant	-	NC_000014.9:g.105142948G>C	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr1155Met	rs587770280	missense variant	-	NC_000014.9:g.105142948G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1156Ser	rs772503929	missense variant	-	NC_000014.9:g.105142946G>A	ExAC,gnomAD
JAG2	Q9Y219	p.Pro1156Leu	rs143438617	missense variant	-	NC_000014.9:g.105142945G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1157Leu	rs201726085	missense variant	-	NC_000014.9:g.105142942G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1158Leu	rs376149193	missense variant	-	NC_000014.9:g.105142939G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1159His	rs200736888	missense variant	-	NC_000014.9:g.105142936C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1159Cys	rs188092112	missense variant	-	NC_000014.9:g.105142937G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1160Ser	rs748033018	missense variant	-	NC_000014.9:g.105142932C>A	ExAC,gnomAD
JAG2	Q9Y219	p.Arg1160Gly	rs1399666136	missense variant	-	NC_000014.9:g.105142934T>C	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1161Val	rs778692204	missense variant	-	NC_000014.9:g.105142930G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Asp1162Gly	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105142927T>C	NCI-TCGA
JAG2	Q9Y219	p.Glu1163Lys	rs1238038983	missense variant	-	NC_000014.9:g.105142925C>T	gnomAD
JAG2	Q9Y219	p.Ala1164Val	rs587608743	missense variant	-	NC_000014.9:g.105142921G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu1165Gln	rs1231803834	missense variant	-	NC_000014.9:g.105142918A>T	TOPMed
JAG2	Q9Y219	p.Gly1167Trp	rs587765253	missense variant	-	NC_000014.9:g.105142913C>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1167Arg	rs587765253	missense variant	-	NC_000014.9:g.105142913C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1168Leu	rs764480222	missense variant	-	NC_000014.9:g.105142909G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1168Ser	COSM5585503	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105142910G>A	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Ala1169Val	rs1458968642	missense variant	-	NC_000014.9:g.105142906G>A	gnomAD
JAG2	Q9Y219	p.Ala1169Thr	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105142907C>T	NCI-TCGA
JAG2	Q9Y219	p.Gly1170Ser	rs587707217	missense variant	-	NC_000014.9:g.105142904C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.His1171Gln	rs776830367	missense variant	-	NC_000014.9:g.105142899G>C	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.His1171Tyr	rs1264974590	missense variant	-	NC_000014.9:g.105142901G>A	gnomAD
JAG2	Q9Y219	p.His1171Gln	rs776830367	missense variant	-	NC_000014.9:g.105142899G>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.His1171Arg	rs1318258128	missense variant	-	NC_000014.9:g.105142900T>C	gnomAD
JAG2	Q9Y219	p.Ala1172Thr	rs587647951	missense variant	-	NC_000014.9:g.105142898C>T	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1172Val	rs778727254	missense variant	-	NC_000014.9:g.105142897G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1172Ser	rs587647951	missense variant	-	NC_000014.9:g.105142898C>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1173Thr	rs1266124676	missense variant	-	NC_000014.9:g.105142895C>T	gnomAD
JAG2	Q9Y219	p.Val1174Ile	rs148815369	missense variant	-	NC_000014.9:g.105142892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1174Phe	rs148815369	missense variant	-	NC_000014.9:g.105142892C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu1176Ala	rs1340346388	missense variant	-	NC_000014.9:g.105142885T>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu1179Asp	rs750007171	missense variant	-	NC_000014.9:g.105142875C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu1181Lys	rs367844673	missense variant	-	NC_000014.9:g.105142871C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu1181Gly	rs1390747093	missense variant	-	NC_000014.9:g.105142870T>C	gnomAD
JAG2	Q9Y219	p.Asp1182ThrPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000014.9:g.105142868_105142869insCTCGT	NCI-TCGA
JAG2	Q9Y219	p.Gly1184Asp	rs1312731501	missense variant	-	NC_000014.9:g.105142861C>T	TOPMed
JAG2	Q9Y219	p.Arg1185Cys	rs756977476	missense variant	-	NC_000014.9:g.105142859G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1185His	rs751204964	missense variant	-	NC_000014.9:g.105142858C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1186Ser	rs764471573	missense variant	-	NC_000014.9:g.105142856C>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu1188Val	rs1260802984	missense variant	-	NC_000014.9:g.105142849T>A	TOPMed,gnomAD
JAG2	Q9Y219	p.Glu1188Asp	rs763324007	missense variant	-	NC_000014.9:g.105142848C>G	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Leu1191Pro	rs775909226	missense variant	-	NC_000014.9:g.105142840A>G	ExAC,gnomAD
JAG2	Q9Y219	p.Ala1193Val	rs759588963	missense variant	-	NC_000014.9:g.105142834G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1193Thr	COSM3401169	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105142835C>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Glu1194Lys	rs770944862	missense variant	-	NC_000014.9:g.105142832C>T	ExAC,gnomAD
JAG2	Q9Y219	p.Phe1196Val	rs760900749	missense variant	-	NC_000014.9:g.105142826A>C	ExAC,gnomAD
JAG2	Q9Y219	p.Phe1196Tyr	rs773316845	missense variant	-	NC_000014.9:g.105142825A>T	ExAC
JAG2	Q9Y219	p.Ser1198Leu	rs749157899	missense variant	-	NC_000014.9:g.105142819G>A	ExAC,gnomAD
JAG2	Q9Y219	p.His1199Arg	rs769904569	missense variant	-	NC_000014.9:g.105142816T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Thr1202Ile	rs375144905	missense variant	-	NC_000014.9:g.105142807G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Thr1202Pro	rs587728046	missense variant	-	NC_000014.9:g.105142808T>G	1000Genomes,ExAC,gnomAD
JAG2	Q9Y219	p.Lys1203Glu	rs756743400	missense variant	-	NC_000014.9:g.105142805T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Pro1205His	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105142798G>T	NCI-TCGA
JAG2	Q9Y219	p.Gly1206Cys	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105142796C>A	NCI-TCGA
JAG2	Q9Y219	p.Arg1207Cys	rs150102743	missense variant	-	NC_000014.9:g.105142793G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1207His	rs1378403382	missense variant	-	NC_000014.9:g.105142792C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Ser1208Leu	rs1225312355	missense variant	-	NC_000014.9:g.105142789G>A	TOPMed
JAG2	Q9Y219	p.Pro1209Leu	rs56753050	missense variant	-	NC_000014.9:g.105142786G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1209Arg	rs56753050	missense variant	-	NC_000014.9:g.105142786G>C	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1210Arg	rs1208820960	missense variant	-	NC_000014.9:g.105142784C>G	TOPMed
JAG2	Q9Y219	p.Pro1212Leu	rs202039687	missense variant	-	NC_000014.9:g.105142777G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1213Thr	rs754321904	missense variant	-	NC_000014.9:g.105142775C>T	ExAC,gnomAD
JAG2	Q9Y219	p.His1214Gln	rs1273845834	missense variant	-	NC_000014.9:g.105142770G>C	TOPMed,gnomAD
JAG2	Q9Y219	p.His1214Asn	NCI-TCGA novel	missense variant	-	NC_000014.9:g.105142772G>T	NCI-TCGA
JAG2	Q9Y219	p.His1214Arg	rs760671738	missense variant	-	NC_000014.9:g.105142771T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Trp1215Cys	rs1197962279	missense variant	-	NC_000014.9:g.105142767C>G	TOPMed
JAG2	Q9Y219	p.Trp1215Arg	rs1290446209	missense variant	-	NC_000014.9:g.105142769A>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Ser1217Leu	rs772477012	missense variant	-	NC_000014.9:g.105142762G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1218Asp	rs375751284	missense variant	-	NC_000014.9:g.105142759C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1218Val	rs375751284	missense variant	-	NC_000014.9:g.105142759C>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Pro1219Ala	rs201033497	missense variant	-	NC_000014.9:g.105142757G>C	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Lys1220Ile	rs781007229	missense variant	-	NC_000014.9:g.105142753T>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1221Ala	rs1280855594	missense variant	-	NC_000014.9:g.105142750A>G	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1223Lys	rs777469234	missense variant	-	NC_000014.9:g.105142743G>C	ExAC
JAG2	Q9Y219	p.Arg1224Cys	rs758086700	missense variant	-	NC_000014.9:g.105142742G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1224His	rs928724782	missense variant	-	NC_000014.9:g.105142741C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1225Thr	rs140910378	missense variant	-	NC_000014.9:g.105142739C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1225Val	rs587606450	missense variant	-	NC_000014.9:g.105142738G>A	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Val1226Ile	rs1212906714	missense variant	-	NC_000014.9:g.105142736C>T	gnomAD
JAG2	Q9Y219	p.Arg1227Thr	rs750514312	missense variant	-	NC_000014.9:g.105142732C>G	ExAC,gnomAD
JAG2	Q9Y219	p.Arg1227Ser	rs1208208684	missense variant	-	NC_000014.9:g.105142731C>A	gnomAD
JAG2	Q9Y219	p.Arg1227Lys	COSM3494264	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105142732C>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Ser1228Asn	rs1166032911	missense variant	-	NC_000014.9:g.105142729C>T	TOPMed,gnomAD
JAG2	Q9Y219	p.Asn1230Ser	rs587706362	missense variant	-	NC_000014.9:g.105142723T>C	1000Genomes,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Glu1231Ala	rs146843591	missense variant	-	NC_000014.9:g.105142720T>G	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1233Cys	rs774739002	missense variant	-	NC_000014.9:g.105142715G>A	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Arg1233His	rs765069855	missense variant	-	NC_000014.9:g.105142714C>T	ExAC,TOPMed
JAG2	Q9Y219	p.Tyr1234Cys	rs759255253	missense variant	-	NC_000014.9:g.105142711T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Tyr1234Ter	rs776629011	stop gained	-	NC_000014.9:g.105142710G>T	ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1235Thr	rs199682063	missense variant	-	NC_000014.9:g.105142709C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Ala1235Val	rs370190108	missense variant	-	NC_000014.9:g.105142708G>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1236Cys	rs201557978	missense variant	-	NC_000014.9:g.105142706C>A	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Gly1236Ser	rs201557978	missense variant	-	NC_000014.9:g.105142706C>T	ESP,ExAC,TOPMed,gnomAD
JAG2	Q9Y219	p.Lys1237Glu	rs778540190	missense variant	-	NC_000014.9:g.105142703T>C	ExAC,gnomAD
JAG2	Q9Y219	p.Glu1238Lys	COSM3494263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105142700C>T	NCI-TCGA Cosmic
JAG2	Q9Y219	p.Ter1239Unk	rs1364867123	stop lost	-	NC_000014.9:g.105142696del	TOPMed
AXIN2	Q9Y2T1	p.Ser2Arg	rs1475337539	missense variant	-	NC_000017.11:g.65558615A>C	gnomAD
AXIN2	Q9Y2T1	p.Ser3Gly	rs762626041	missense variant	-	NC_000017.11:g.65558614T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser3Arg	rs553412612	missense variant	-	NC_000017.11:g.65558612G>C	1000Genomes
AXIN2	Q9Y2T1	p.Ala4Thr	rs1175877868	missense variant	-	NC_000017.11:g.65558611C>T	gnomAD
AXIN2	Q9Y2T1	p.Met5Val	rs148691166	missense variant	-	NC_000017.11:g.65558608T>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met5Arg	rs730881397	missense variant	-	NC_000017.11:g.65558607A>C	gnomAD
AXIN2	Q9Y2T1	p.Met5CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65558609A>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Met5Lys	rs730881397	missense variant	-	NC_000017.11:g.65558607A>T	gnomAD
AXIN2	Q9Y2T1	p.Val7Leu	rs878854723	missense variant	-	NC_000017.11:g.65558602C>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val7Met	rs878854723	missense variant	-	NC_000017.11:g.65558602C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr8Ser	rs1275134450	missense variant	-	NC_000017.11:g.65558599T>A	gnomAD
AXIN2	Q9Y2T1	p.Cys9Phe	rs765173791	missense variant	-	NC_000017.11:g.65558595C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro11Leu	rs776778201	missense variant	-	NC_000017.11:g.65558589G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asp12His	rs1064793821	missense variant	-	NC_000017.11:g.65558587C>G	-
AXIN2	Q9Y2T1	p.Pro13Ser	rs1375330430	missense variant	-	NC_000017.11:g.65558584G>A	gnomAD
AXIN2	Q9Y2T1	p.Ser15Gly	rs759551291	missense variant	-	NC_000017.11:g.65558578T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg18Leu	rs878854732	missense variant	-	NC_000017.11:g.65558568C>A	gnomAD
AXIN2	Q9Y2T1	p.Arg18Pro	rs878854732	missense variant	-	NC_000017.11:g.65558568C>G	gnomAD
AXIN2	Q9Y2T1	p.Arg18His	rs878854732	missense variant	-	NC_000017.11:g.65558568C>T	gnomAD
AXIN2	Q9Y2T1	p.Arg18Cys	COSM3820283	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558569G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Asp20Asn	rs768267292	missense variant	-	NC_000017.11:g.65558563C>T	gnomAD
AXIN2	Q9Y2T1	p.Asp20His	rs768267292	missense variant	-	NC_000017.11:g.65558563C>G	gnomAD
AXIN2	Q9Y2T1	p.Ala21Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558559G>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Pro22Leu	rs1343964499	missense variant	-	NC_000017.11:g.65558556G>A	gnomAD
AXIN2	Q9Y2T1	p.Arg23AlaPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65558555_65558556insG	NCI-TCGA
AXIN2	Q9Y2T1	p.Arg23Trp	COSM983049	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558554G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Pro27GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65558541G>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Glu30Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558531T>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Gly31Arg	rs1381395730	missense variant	-	NC_000017.11:g.65558530C>G	gnomAD
AXIN2	Q9Y2T1	p.Gly31Arg	rs1381395730	missense variant	-	NC_000017.11:g.65558530C>T	gnomAD
AXIN2	Q9Y2T1	p.Glu32Lys	rs1173490917	missense variant	-	NC_000017.11:g.65558527C>T	gnomAD
AXIN2	Q9Y2T1	p.Glu32Asp	rs1453134737	missense variant	-	NC_000017.11:g.65558525C>A	gnomAD
AXIN2	Q9Y2T1	p.Glu32Asp	rs1453134737	missense variant	-	NC_000017.11:g.65558525C>G	gnomAD
AXIN2	Q9Y2T1	p.Thr33Ser	rs771093792	missense variant	-	NC_000017.11:g.65558523G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr33Asn	rs771093792	missense variant	-	NC_000017.11:g.65558523G>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro34Ala	rs574154714	missense variant	-	NC_000017.11:g.65558521G>C	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro34Ser	rs574154714	missense variant	-	NC_000017.11:g.65558521G>A	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro34Gln	rs770206565	missense variant	-	NC_000017.11:g.65558520G>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro35Leu	rs748495558	missense variant	-	NC_000017.11:g.65558517G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Cys36Tyr	rs1555583751	missense variant	-	NC_000017.11:g.65558514C>T	-
AXIN2	Q9Y2T1	p.Gln37Ter	rs1555583747	stop gained	-	NC_000017.11:g.65558512G>A	-
AXIN2	Q9Y2T1	p.Pro38Leu	rs1555583744	missense variant	-	NC_000017.11:g.65558508G>A	-
AXIN2	Q9Y2T1	p.Pro38Ala	rs878854716	missense variant	-	NC_000017.11:g.65558509G>C	-
AXIN2	Q9Y2T1	p.Val40Met	rs1555583743	missense variant	-	NC_000017.11:g.65558503C>T	-
AXIN2	Q9Y2T1	p.Val40Gly	rs781560435	missense variant	-	NC_000017.11:g.65558502A>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly41Cys	rs755444120	missense variant	-	NC_000017.11:g.65558500C>A	ExAC
AXIN2	Q9Y2T1	p.Gly41Val	rs751061508	missense variant	-	NC_000017.11:g.65558499C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly41Asp	rs751061508	missense variant	-	NC_000017.11:g.65558499C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys42Asn	rs1555583730	missense variant	-	NC_000017.11:g.65558495C>G	-
AXIN2	Q9Y2T1	p.Lys42Arg	rs779567219	missense variant	-	NC_000017.11:g.65558496T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly43Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558493C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Gly43Ser	rs1345677890	missense variant	-	NC_000017.11:g.65558494C>T	gnomAD
AXIN2	Q9Y2T1	p.Gln44Leu	rs1060502131	missense variant	-	NC_000017.11:g.65558490T>A	gnomAD
AXIN2	Q9Y2T1	p.Thr46Ala	rs1555583721	missense variant	-	NC_000017.11:g.65558485T>C	-
AXIN2	Q9Y2T1	p.Pro48Leu	rs1555583718	missense variant	-	NC_000017.11:g.65558478G>A	-
AXIN2	Q9Y2T1	p.Pro48Ser	rs373435521	missense variant	-	NC_000017.11:g.65558479G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met49ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65558476_65558477insGG	NCI-TCGA
AXIN2	Q9Y2T1	p.Met49Leu	rs1433573233	missense variant	-	NC_000017.11:g.65558476T>G	TOPMed
AXIN2	Q9Y2T1	p.Ser50Pro	rs2240308	missense variant	-	NC_000017.11:g.65558473G>A	UniProt,dbSNP
AXIN2	Q9Y2T1	p.Ser50Pro	VAR_054860	missense variant	-	NC_000017.11:g.65558473G>A	UniProt
AXIN2	Q9Y2T1	p.Pro50Ser	rs2240308	missense variant	-	NC_000017.11:g.65558473G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser50Pro	VAR_054860	Missense	-	-	UniProt
AXIN2	Q9Y2T1	p.Val51Leu	rs753631236	missense variant	-	NC_000017.11:g.65558470C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser53Cys	rs760625400	missense variant	-	NC_000017.11:g.65558463G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asn54Ser	rs876661194	missense variant	-	NC_000017.11:g.65558460T>C	-
AXIN2	Q9Y2T1	p.Asn54Lys	rs1427989179	missense variant	-	NC_000017.11:g.65558459G>T	gnomAD
AXIN2	Q9Y2T1	p.Arg56Ser	rs899824837	missense variant	-	NC_000017.11:g.65558453C>A	TOPMed
AXIN2	Q9Y2T1	p.Arg56Gly	rs1431601772	missense variant	-	NC_000017.11:g.65558455T>C	TOPMed
AXIN2	Q9Y2T1	p.Arg57Trp	rs1555583686	missense variant	-	NC_000017.11:g.65558452G>A	-
AXIN2	Q9Y2T1	p.Arg57Gln	rs771078276	missense variant	-	NC_000017.11:g.65558451C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asn58Lys	rs763012548	missense variant	-	NC_000017.11:g.65558447G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu59Gln	rs773477442	missense variant	-	NC_000017.11:g.65558446C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asp60Gly	rs1555583673	missense variant	-	NC_000017.11:g.65558442T>C	-
AXIN2	Q9Y2T1	p.Gly61Glu	rs1018815193	missense variant	-	NC_000017.11:g.65558439C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly61Ala	rs1018815193	missense variant	-	NC_000017.11:g.65558439C>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu62Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558436A>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Gly63Arg	rs1060502158	missense variant	-	NC_000017.11:g.65558434C>G	-
AXIN2	Q9Y2T1	p.Pro65Leu	COSM983047	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558427G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Arg68Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558419G>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Arg68Gln	rs138056036	missense variant	-	NC_000017.11:g.65558418C>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser70Phe	rs1555583645	missense variant	-	NC_000017.11:g.65558412G>A	-
AXIN2	Q9Y2T1	p.Pro71Leu	rs1060502145	missense variant	-	NC_000017.11:g.65558409G>A	-
AXIN2	Q9Y2T1	p.Pro71Ser	rs769064498	missense variant	-	NC_000017.11:g.65558410G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp72His	rs747599888	missense variant	-	NC_000017.11:g.65558407C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser73Cys	rs1306348080	missense variant	-	NC_000017.11:g.65558403G>C	gnomAD
AXIN2	Q9Y2T1	p.Leu75Val	rs780394272	missense variant	-	NC_000017.11:g.65558398G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr76Ser	rs730881402	missense variant	-	NC_000017.11:g.65558394G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg77Gln	rs778517452	missense variant	-	NC_000017.11:g.65558391C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr79Ile	rs1202629263	missense variant	-	NC_000017.11:g.65558385G>A	TOPMed
AXIN2	Q9Y2T1	p.Lys80Arg	rs369009135	missense variant	-	NC_000017.11:g.65558382T>C	ESP
AXIN2	Q9Y2T1	p.Ser81Ala	rs756904728	missense variant	-	NC_000017.11:g.65558380A>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser81Phe	rs146238336	missense variant	-	NC_000017.11:g.65558379G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His83Tyr	rs1488655314	missense variant	-	NC_000017.11:g.65558374G>A	TOPMed
AXIN2	Q9Y2T1	p.Ser84Cys	rs878854729	missense variant	-	NC_000017.11:g.65558370G>C	TOPMed
AXIN2	Q9Y2T1	p.Leu85Ser	rs1060502137	missense variant	-	NC_000017.11:g.65558367A>G	-
AXIN2	Q9Y2T1	p.Asp88Gly	rs1186148018	missense variant	-	NC_000017.11:g.65558358T>C	gnomAD
AXIN2	Q9Y2T1	p.Asp88His	rs752743306	missense variant	-	NC_000017.11:g.65558359C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asp88Glu	rs767340577	missense variant	-	NC_000017.11:g.65558357A>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln89Arg	rs1258020418	missense variant	-	NC_000017.11:g.65558355T>C	gnomAD
AXIN2	Q9Y2T1	p.Gln89Lys	rs1250947526	missense variant	-	NC_000017.11:g.65558356G>T	TOPMed
AXIN2	Q9Y2T1	p.Asp90Glu	rs141655687	missense variant	-	NC_000017.11:g.65558351G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly91Ser	rs1480283302	missense variant	-	NC_000017.11:g.65558350C>T	gnomAD
AXIN2	Q9Y2T1	p.Tyr93Phe	COSM1324898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558343T>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Phe95Leu	rs1555583568	missense variant	-	NC_000017.11:g.65558336G>T	-
AXIN2	Q9Y2T1	p.Arg96Gln	COSM983045	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558334C>T	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Arg96Ter	COSM5889324	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65558335G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Thr97Ile	rs1555583566	missense variant	-	NC_000017.11:g.65558331G>A	-
AXIN2	Q9Y2T1	p.Thr97PhePheSerTerUnkUnk	COSM1385337	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65558332_65558333TT>-	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Phe98Leu	rs773206945	missense variant	-	NC_000017.11:g.65558329A>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu102Lys	rs769104629	missense variant	-	NC_000017.11:g.65558317C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys103AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65558315C>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Lys103Arg	rs186514805	missense variant	-	NC_000017.11:g.65558313T>C	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Cys104Trp	rs373628863	missense variant	-	NC_000017.11:g.65558309G>C	ESP,ExAC,TOPMed
AXIN2	Q9Y2T1	p.Val105Gly	rs752881223	missense variant	-	NC_000017.11:g.65558307A>C	-
AXIN2	Q9Y2T1	p.Thr107Ala	rs1555583537	missense variant	-	NC_000017.11:g.65558302T>C	-
AXIN2	Q9Y2T1	p.Leu108Val	rs112058150	missense variant	-	NC_000017.11:g.65558299A>C	-
AXIN2	Q9Y2T1	p.Asp109Glu	rs1176996295	missense variant	-	NC_000017.11:g.65558294G>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Trp111GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65558290A>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Cys114Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558281A>C	NCI-TCGA
AXIN2	Q9Y2T1	p.Cys114Phe	COSM3421803	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558280C>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Asn115Ser	rs370257532	missense variant	-	NC_000017.11:g.65558277T>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg118Lys	rs756996397	missense variant	-	NC_000017.11:g.65558268C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln119Pro	rs777282977	missense variant	-	NC_000017.11:g.65558265T>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gln119Arg	rs777282977	missense variant	-	NC_000017.11:g.65558265T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gln119His	COSM983041	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558264C>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Met120Ile	COSM1184282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558261C>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Leu122Arg	rs1162974793	missense variant	-	NC_000017.11:g.65558256A>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp124Asn	rs755990979	missense variant	-	NC_000017.11:g.65558251C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr125SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65558231_65558247TACTCGTAAAGTTTTGG>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Arg129Leu	COSM983039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558235C>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Arg129Gln	COSM4837262	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558235C>T	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Ala131Gly	rs947743204	missense variant	-	NC_000017.11:g.65558229G>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala131Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558230C>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Ala133Val	rs767445163	missense variant	-	NC_000017.11:g.65558223G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ile134Val	rs916243872	missense variant	-	NC_000017.11:g.65558221T>C	TOPMed
AXIN2	Q9Y2T1	p.Tyr135Asn	rs144607215	missense variant	-	NC_000017.11:g.65558218A>T	ESP
AXIN2	Q9Y2T1	p.Lys136Arg	rs1457819815	missense variant	-	NC_000017.11:g.65558214T>C	gnomAD
AXIN2	Q9Y2T1	p.Ile139Val	rs1060502146	missense variant	-	NC_000017.11:g.65558206T>C	-
AXIN2	Q9Y2T1	p.Glu140Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558203C>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Asn141Ser	rs1211381343	missense variant	-	NC_000017.11:g.65558199T>C	gnomAD
AXIN2	Q9Y2T1	p.Asn142Ser	rs765336893	missense variant	-	NC_000017.11:g.65558196T>C	gnomAD
AXIN2	Q9Y2T1	p.Ser143Gly	rs765348456	missense variant	-	NC_000017.11:g.65558194T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser143Asn	rs761849564	missense variant	-	NC_000017.11:g.65558193C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ile144Val	rs1555583470	missense variant	-	NC_000017.11:g.65558191T>C	-
AXIN2	Q9Y2T1	p.Gln148Arg	rs1309778870	missense variant	-	NC_000017.11:g.65558178T>C	gnomAD
AXIN2	Q9Y2T1	p.Ala152Thr	rs772740656	missense variant	-	NC_000017.11:g.65558167C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr153Ile	rs1555583456	missense variant	-	NC_000017.11:g.65558163G>A	-
AXIN2	Q9Y2T1	p.Thr155Ala	rs1443332884	missense variant	-	NC_000017.11:g.65558158T>C	gnomAD
AXIN2	Q9Y2T1	p.Tyr156Cys	rs1060502159	missense variant	-	NC_000017.11:g.65558154T>C	gnomAD
AXIN2	Q9Y2T1	p.Tyr156Ter	COSM6081719	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65558153G>T	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Ile157Val	rs951973598	missense variant	-	NC_000017.11:g.65558152T>C	TOPMed
AXIN2	Q9Y2T1	p.Arg158Thr	rs748730853	missense variant	-	NC_000017.11:g.65558148C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp159His	rs753036084	missense variant	-	NC_000017.11:g.65558146C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp159Tyr	rs753036084	missense variant	-	NC_000017.11:g.65558146C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp159Asn	rs753036084	missense variant	-	NC_000017.11:g.65558146C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly160Asp	rs1162424416	missense variant	-	NC_000017.11:g.65558142C>T	TOPMed
AXIN2	Q9Y2T1	p.Ile161Met	rs1160324143	missense variant	-	NC_000017.11:g.65558138G>C	gnomAD
AXIN2	Q9Y2T1	p.Lys162Arg	rs370606806	missense variant	-	NC_000017.11:g.65558136T>C	ESP,TOPMed
AXIN2	Q9Y2T1	p.Lys162Glu	rs748004347	missense variant	-	NC_000017.11:g.65558137T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys162Thr	rs370606806	missense variant	-	NC_000017.11:g.65558136T>G	ESP,TOPMed
AXIN2	Q9Y2T1	p.Gln164Glu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558131G>C	NCI-TCGA
AXIN2	Q9Y2T1	p.Ile166Thr	rs1555583424	missense variant	-	NC_000017.11:g.65558124A>G	-
AXIN2	Q9Y2T1	p.Asp167Glu	rs375603095	missense variant	-	NC_000017.11:g.65558120A>C	ESP,TOPMed
AXIN2	Q9Y2T1	p.Asp167His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558122C>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Ile169Val	rs1060502155	missense variant	-	NC_000017.11:g.65558116T>C	-
AXIN2	Q9Y2T1	p.Phe171Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558109A>C	NCI-TCGA
AXIN2	Q9Y2T1	p.Phe171Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558109A>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Asp172His	COSM1479877	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65558107C>G	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Gln173Lys	rs886053281	missense variant	-	NC_000017.11:g.65558104G>T	-
AXIN2	Q9Y2T1	p.Ala174Val	rs1555583417	missense variant	-	NC_000017.11:g.65558100G>A	-
AXIN2	Q9Y2T1	p.Gln175Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.65558098G>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Thr176Ile	rs878854731	missense variant	-	NC_000017.11:g.65558094G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu177Ala	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558091T>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Glu177Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558090C>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Gln179Arg	rs1555583409	missense variant	-	NC_000017.11:g.65558085T>C	-
AXIN2	Q9Y2T1	p.Val181Met	rs1348898769	missense variant	-	NC_000017.11:g.65558080C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met182Val	rs976524379	missense variant	-	NC_000017.11:g.65558077T>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met182Thr	rs1241449133	missense variant	-	NC_000017.11:g.65558076A>G	gnomAD
AXIN2	Q9Y2T1	p.Glu184Lys	rs538659423	missense variant	-	NC_000017.11:g.65558071C>T	1000Genomes
AXIN2	Q9Y2T1	p.Asn185His	rs1301940236	missense variant	-	NC_000017.11:g.65558068T>G	gnomAD
AXIN2	Q9Y2T1	p.Ala186Val	rs757415705	missense variant	-	NC_000017.11:g.65558064G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln188His	rs753137017	missense variant	-	NC_000017.11:g.65558057C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gln188Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558058T>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Gln188Glu	rs753803824	missense variant	-	NC_000017.11:g.65558059G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln188Arg	rs149000772	missense variant	-	NC_000017.11:g.65558058T>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met189Lys	rs759953633	missense variant	-	NC_000017.11:g.65558055A>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Met189Leu	rs768030934	missense variant	-	NC_000017.11:g.65558056T>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Met189Ile	rs762082964	missense variant	-	NC_000017.11:g.65558054C>T	-
AXIN2	Q9Y2T1	p.Phe190Cys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558052A>C	NCI-TCGA
AXIN2	Q9Y2T1	p.Phe190Leu	rs1337342790	missense variant	-	NC_000017.11:g.65558051A>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu191Phe	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558048C>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Leu191Ter	COSM1385335	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65558049A>-	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Thr192Ile	rs1413763058	missense variant	-	NC_000017.11:g.65558046G>A	TOPMed
AXIN2	Q9Y2T1	p.Ile195Thr	rs775069864	missense variant	-	NC_000017.11:g.65558037A>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ile195Met	rs771501783	missense variant	-	NC_000017.11:g.65558036T>C	ExAC
AXIN2	Q9Y2T1	p.Tyr196His	rs762542140	missense variant	-	NC_000017.11:g.65558035A>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu198Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558029C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Glu198Asp	rs1478720065	missense variant	-	NC_000017.11:g.65558027T>A	gnomAD
AXIN2	Q9Y2T1	p.Glu198Ala	rs1555583360	missense variant	-	NC_000017.11:g.65558028T>G	-
AXIN2	Q9Y2T1	p.Glu198Gln	rs772550463	missense variant	-	NC_000017.11:g.65558029C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Val200Met	rs752081909	missense variant	-	NC_000017.11:g.65558023C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg201Lys	rs999658623	missense variant	-	NC_000017.11:g.65558019C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser202Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558015A>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser202Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65558016C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser202Arg	rs780801809	missense variant	-	NC_000017.11:g.65558017T>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly203Arg	rs62640027	missense variant	-	NC_000017.11:g.65558014C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly203Arg	rs62640027	missense variant	-	NC_000017.11:g.65558014C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly203Trp	rs62640027	missense variant	-	NC_000017.11:g.65558014C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly203Ala	rs1555583340	missense variant	-	NC_000017.11:g.65558013C>G	-
AXIN2	Q9Y2T1	p.Gly204GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65558010C>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Ala208Val	rs201531372	missense variant	-	NC_000017.11:g.65557998G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met210Thr	rs529954883	missense variant	-	NC_000017.11:g.65557992A>G	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met210Ile	rs756185275	missense variant	-	NC_000017.11:g.65557991C>G	ExAC
AXIN2	Q9Y2T1	p.Ser211Thr	rs201399449	missense variant	-	NC_000017.11:g.65557989C>G	1000Genomes,gnomAD
AXIN2	Q9Y2T1	p.Ser211Asn	rs201399449	missense variant	-	NC_000017.11:g.65557989C>T	1000Genomes,gnomAD
AXIN2	Q9Y2T1	p.Asn212Ser	rs368610577	missense variant	-	NC_000017.11:g.65557986T>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly214AspPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65557980C>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Gly214Val	rs1419378216	missense variant	-	NC_000017.11:g.65557980C>A	gnomAD
AXIN2	Q9Y2T1	p.Gly216Arg	rs1555583315	missense variant	-	NC_000017.11:g.65557975C>T	-
AXIN2	Q9Y2T1	p.Gly216Glu	rs1044406215	missense variant	-	NC_000017.11:g.65557974C>T	TOPMed
AXIN2	Q9Y2T1	p.Ser217Arg	rs759988180	missense variant	-	NC_000017.11:g.65557970G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Leu218Val	rs766935285	missense variant	-	NC_000017.11:g.65557969G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu218Ile	rs766935285	missense variant	-	NC_000017.11:g.65557969G>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val220Ile	rs1310922131	missense variant	-	NC_000017.11:g.65557963C>T	gnomAD
AXIN2	Q9Y2T1	p.Val221Leu	rs1402235122	missense variant	-	NC_000017.11:g.65557960C>G	gnomAD
AXIN2	Q9Y2T1	p.Gly223Arg	rs878854733	missense variant	-	NC_000017.11:g.65557954C>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly223Ser	rs878854733	missense variant	-	NC_000017.11:g.65557954C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr224Cys	rs1166843937	missense variant	-	NC_000017.11:g.65557950T>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro226His	rs1243178407	missense variant	-	NC_000017.11:g.65557944G>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr227Ala	rs1483174622	missense variant	-	NC_000017.11:g.65557942T>C	TOPMed
AXIN2	Q9Y2T1	p.Thr227Ile	rs1180715732	missense variant	-	NC_000017.11:g.65557941G>A	TOPMed
AXIN2	Q9Y2T1	p.Asn229Ile	rs764704332	missense variant	-	NC_000017.11:g.65557935T>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asn229Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65557936T>C	NCI-TCGA
AXIN2	Q9Y2T1	p.Asn229Ser	rs764704332	missense variant	-	NC_000017.11:g.65557935T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu231Lys	rs761299800	missense variant	-	NC_000017.11:g.65557930C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu232Gln	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65557927C>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Thr235Ile	rs776333136	missense variant	-	NC_000017.11:g.65557917G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Cys236Tyr	rs1194128028	missense variant	-	NC_000017.11:g.65557914C>T	gnomAD
AXIN2	Q9Y2T1	p.Asp238His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65557909C>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Asp238Asn	rs1279069233	missense variant	-	NC_000017.11:g.65557909C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Lys240Arg	rs746819327	missense variant	-	NC_000017.11:g.65557902T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Lys240Asn	rs1372561560	missense variant	-	NC_000017.11:g.65557901C>G	TOPMed
AXIN2	Q9Y2T1	p.Cys241Gly	rs370549410	missense variant	-	NC_000017.11:g.65557900A>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Cys241Tyr	rs1410654676	missense variant	-	NC_000017.11:g.65557899C>T	TOPMed
AXIN2	Q9Y2T1	p.Leu243Val	rs1060502152	missense variant	-	NC_000017.11:g.65557894G>C	TOPMed
AXIN2	Q9Y2T1	p.Ser244Leu	rs199798353	missense variant	-	NC_000017.11:g.65557890G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser244Trp	rs199798353	missense variant	-	NC_000017.11:g.65557890G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro245Ser	rs62640028	missense variant	-	NC_000017.11:g.65557888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro245Ala	rs62640028	missense variant	-	NC_000017.11:g.65557888G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr246Ser	rs1555583222	missense variant	-	NC_000017.11:g.65557885T>A	-
AXIN2	Q9Y2T1	p.Val247Met	rs755206242	missense variant	-	NC_000017.11:g.65557882C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val247Leu	rs755206242	missense variant	-	NC_000017.11:g.65557882C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val247Leu	rs755206242	missense variant	-	NC_000017.11:g.65557882C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val248Ile	rs758769942	missense variant	-	NC_000017.11:g.65557879C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val248Gly	rs1555583211	missense variant	-	NC_000017.11:g.65557878A>C	-
AXIN2	Q9Y2T1	p.Val248Phe	rs758769942	missense variant	-	NC_000017.11:g.65557879C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu250Phe	rs1060502149	missense variant	-	NC_000017.11:g.65557871C>A	TOPMed
AXIN2	Q9Y2T1	p.Ser252Ile	rs750951236	missense variant	-	NC_000017.11:g.65557866C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser252Pro	rs1064796197	missense variant	-	NC_000017.11:g.65557866_65557867delinsGG	-
AXIN2	Q9Y2T1	p.Thr254ProPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65557852_65557861CCCTCAGAGT>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Arg256Ser	rs142454363	missense variant	-	NC_000017.11:g.65557853C>A	ESP,ExAC
AXIN2	Q9Y2T1	p.Arg256GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65557856_65557857insA	NCI-TCGA
AXIN2	Q9Y2T1	p.Ala257Val	rs761317788	missense variant	-	NC_000017.11:g.65557851G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr258Ala	rs1183931601	missense variant	-	NC_000017.11:g.65557849T>C	gnomAD
AXIN2	Q9Y2T1	p.Thr258Met	rs1473358053	missense variant	-	NC_000017.11:g.65557848G>A	gnomAD
AXIN2	Q9Y2T1	p.Ala259ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65557846C>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Ala259Val	rs1239640498	missense variant	-	NC_000017.11:g.65557845G>A	gnomAD
AXIN2	Q9Y2T1	p.Val261Glu	rs760279483	missense variant	-	NC_000017.11:g.65557839A>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg262Lys	rs878854734	missense variant	-	NC_000017.11:g.65557836C>T	-
AXIN2	Q9Y2T1	p.Ser263Tyr	rs377293563	missense variant	-	NC_000017.11:g.65557833G>T	ESP,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr264Met	rs771809149	missense variant	-	NC_000017.11:g.65557830G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr264Ala	rs1064794876	missense variant	-	NC_000017.11:g.65557831T>C	TOPMed
AXIN2	Q9Y2T1	p.Glu265Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65557828C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Thr266Ala	rs1555583178	missense variant	-	NC_000017.11:g.65557825T>C	-
AXIN2	Q9Y2T1	p.Val267Leu	rs878854735	missense variant	-	NC_000017.11:g.65557822C>G	TOPMed
AXIN2	Q9Y2T1	p.Asp268Tyr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65557819C>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Asp268Asn	rs745659837	missense variant	-	NC_000017.11:g.65557819C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser269Gly	rs1229801064	missense variant	-	NC_000017.11:g.65557816T>C	gnomAD
AXIN2	Q9Y2T1	p.Tyr271Ter	rs770848938	stop gained	-	NC_000017.11:g.65557808G>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg272Lys	rs748265281	missense variant	-	NC_000017.11:g.65557806C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg272Trp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65557807T>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Arg272Thr	rs748265281	missense variant	-	NC_000017.11:g.65557806C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys275Arg	COSM3521038	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65549652T>C	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Arg276Thr	rs1173628990	missense variant	-	NC_000017.11:g.65549649C>G	gnomAD
AXIN2	Q9Y2T1	p.Ser277ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65549646_65549647CT>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser277Asn	rs763027598	missense variant	-	NC_000017.11:g.65549646C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asp278Asn	rs878854737	missense variant	-	NC_000017.11:g.65549644C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro279Arg	rs768915721	missense variant	-	NC_000017.11:g.65549640G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro279Leu	rs768915721	missense variant	-	NC_000017.11:g.65549640G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Val280Ile	rs1214147932	missense variant	-	NC_000017.11:g.65549638C>T	gnomAD
AXIN2	Q9Y2T1	p.Val280Ala	rs1489180181	missense variant	-	NC_000017.11:g.65549637A>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asn281Tyr	rs747107796	missense variant	-	NC_000017.11:g.65549635T>A	ExAC,TOPMed
AXIN2	Q9Y2T1	p.Pro282Ser	rs780143881	missense variant	-	NC_000017.11:g.65549632G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro282Leu	rs772279739	missense variant	-	NC_000017.11:g.65549631G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Tyr283Cys	rs1309872479	missense variant	-	NC_000017.11:g.65549628T>C	gnomAD
AXIN2	Q9Y2T1	p.His284Tyr	COSM3795973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65549626G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Ile285Val	rs746239590	missense variant	-	NC_000017.11:g.65549623T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ile285Met	rs779294675	missense variant	-	NC_000017.11:g.65549621T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly286Asp	rs371327205	missense variant	-	NC_000017.11:g.65549619C>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly288Ala	rs754388559	missense variant	-	NC_000017.11:g.65549613C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr289Cys	rs1060502148	missense variant	-	NC_000017.11:g.65549610T>C	-
AXIN2	Q9Y2T1	p.Val290Ile	rs1361649860	missense variant	-	NC_000017.11:g.65549608C>T	gnomAD
AXIN2	Q9Y2T1	p.Phe291Cys	rs376949421	missense variant	-	NC_000017.11:g.65549604A>C	ESP,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala292CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65549602_65549603insA	NCI-TCGA
AXIN2	Q9Y2T1	p.Ala292Pro	rs1360920012	missense variant	-	NC_000017.11:g.65549602C>G	gnomAD
AXIN2	Q9Y2T1	p.Pro293Gln	rs1060502154	missense variant	-	NC_000017.11:g.65549598G>T	-
AXIN2	Q9Y2T1	p.Ala297Thr	rs751143605	missense variant	-	NC_000017.11:g.65549587C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asn298Ser	rs139274803	missense variant	-	NC_000017.11:g.65549583T>C	ESP,ExAC,TOPMed
AXIN2	Q9Y2T1	p.Asp299Asn	rs773351166	missense variant	-	NC_000017.11:g.65549581C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser300Ile	rs1333766927	missense variant	-	NC_000017.11:g.65549577C>A	TOPMed
AXIN2	Q9Y2T1	p.Ser303IlePheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65549570_65549571insA	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser304Asn	rs577812215	missense variant	-	NC_000017.11:g.65549565C>T	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser304Ile	rs577812215	missense variant	-	NC_000017.11:g.65549565C>A	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala306Val	rs151247101	missense variant	-	NC_000017.11:g.65549559G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala306Gly	rs151247101	missense variant	-	NC_000017.11:g.65549559G>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu307Arg	rs1064795416	missense variant	-	NC_000017.11:g.65549556A>C	-
AXIN2	Q9Y2T1	p.Leu307Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65549556A>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Thr308Met	rs779083840	missense variant	-	NC_000017.11:g.65549553G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp309Asn	rs1341462069	missense variant	-	NC_000017.11:g.65549551C>T	gnomAD
AXIN2	Q9Y2T1	p.Met312Ile	rs1394762778	missense variant	-	NC_000017.11:g.65549540C>T	gnomAD
AXIN2	Q9Y2T1	p.Met312Val	rs749646558	missense variant	-	NC_000017.11:g.65549542T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Met312Ile	rs1394762778	missense variant	-	NC_000017.11:g.65549540C>A	gnomAD
AXIN2	Q9Y2T1	p.Met314Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65549534C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Met314Ile	rs945493883	missense variant	-	NC_000017.11:g.65549534C>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met314Val	rs778252248	missense variant	-	NC_000017.11:g.65549536T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr315Arg	rs747647668	missense variant	-	NC_000017.11:g.65549532G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr315Met	rs747647668	missense variant	-	NC_000017.11:g.65549532G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp316His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65549530C>G	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser318Gly	rs1555581191	missense variant	-	NC_000017.11:g.65549524T>C	-
AXIN2	Q9Y2T1	p.Val319Ile	rs913060347	missense variant	-	NC_000017.11:g.65549521C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp320His	rs1060502136	missense variant	-	NC_000017.11:g.65541556C>G	-
AXIN2	Q9Y2T1	p.Asp320Val	rs1462955225	missense variant	-	NC_000017.11:g.65541555T>A	TOPMed
AXIN2	Q9Y2T1	p.Gly321Arg	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65541553C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Pro324Leu	rs202108391	missense variant	-	NC_000017.11:g.65541543G>A	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro324Ser	COSM4068783	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65541544G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Tyr325Asp	rs758075343	missense variant	-	NC_000017.11:g.65541541A>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr325His	rs758075343	missense variant	-	NC_000017.11:g.65541541A>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg326His	rs750274537	missense variant	-	NC_000017.11:g.65541537C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg326Cys	rs201387209	missense variant	-	NC_000017.11:g.65541538G>A	gnomAD
AXIN2	Q9Y2T1	p.Val327Met	rs372255441	missense variant	-	NC_000017.11:g.65541535C>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val327Ala	rs756978497	missense variant	-	NC_000017.11:g.65541534A>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly328Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65541532C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser329Asn	rs774353403	missense variant	-	NC_000017.11:g.65541528C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser329Cys	rs763931522	missense variant	-	NC_000017.11:g.65541529T>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser329Thr	rs774353403	missense variant	-	NC_000017.11:g.65541528C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser329Arg	rs763931522	missense variant	-	NC_000017.11:g.65541529T>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys330Glu	rs766607261	missense variant	-	NC_000017.11:g.65541526T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Lys331Arg	rs1431858462	missense variant	-	NC_000017.11:g.65541522T>C	TOPMed
AXIN2	Q9Y2T1	p.Gln332Arg	rs763207034	missense variant	-	NC_000017.11:g.65541519T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln332His	rs773403638	missense variant	-	NC_000017.11:g.65541518C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Leu333Phe	rs1277969472	missense variant	-	NC_000017.11:g.65541517G>A	TOPMed
AXIN2	Q9Y2T1	p.Gln334Glu	rs770254456	missense variant	-	NC_000017.11:g.65541514G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg335Lys	rs1060502134	missense variant	-	NC_000017.11:g.65541510C>T	-
AXIN2	Q9Y2T1	p.Met337Thr	rs1418913084	missense variant	-	NC_000017.11:g.65541504A>G	gnomAD
AXIN2	Q9Y2T1	p.His338Tyr	rs748459029	missense variant	-	NC_000017.11:g.65541502G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg339Gly	rs1060502160	missense variant	-	NC_000017.11:g.65541499G>C	gnomAD
AXIN2	Q9Y2T1	p.Arg339Cys	rs1060502160	missense variant	-	NC_000017.11:g.65541499G>A	gnomAD
AXIN2	Q9Y2T1	p.Arg339His	COSM279093	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65541498C>T	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Val341Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65541493C>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Lys342Met	rs1555579332	missense variant	-	NC_000017.11:g.65541489T>A	-
AXIN2	Q9Y2T1	p.Ala343Thr	rs746540542	missense variant	-	NC_000017.11:g.65541487C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asn344Ser	rs878854715	missense variant	-	NC_000017.11:g.65541483T>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser348Cys	rs779669781	missense variant	-	NC_000017.11:g.65541471G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser348Thr	rs142726686	missense variant	-	NC_000017.11:g.65541472A>T	ESP,TOPMed
AXIN2	Q9Y2T1	p.Leu349Pro	rs876661230	missense variant	-	NC_000017.11:g.65541468A>G	-
AXIN2	Q9Y2T1	p.Leu349Ile	rs1447816369	missense variant	-	NC_000017.11:g.65541469G>T	TOPMed
AXIN2	Q9Y2T1	p.Leu349Val	rs1447816369	missense variant	-	NC_000017.11:g.65541469G>C	TOPMed
AXIN2	Q9Y2T1	p.Leu349SerPheSerTerUnkUnk	COSM273540	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65541469_65541470insA	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Pro350Leu	rs1434576661	missense variant	-	NC_000017.11:g.65541465G>A	gnomAD
AXIN2	Q9Y2T1	p.Pro353Leu	rs771677461	missense variant	-	NC_000017.11:g.65541456G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg354Lys	rs906309952	missense variant	-	NC_000017.11:g.65538342C>T	TOPMed
AXIN2	Q9Y2T1	p.Arg354Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.65538343T>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Thr355Ile	rs1555578556	missense variant	-	NC_000017.11:g.65538339G>A	-
AXIN2	Q9Y2T1	p.Arg357Cys	rs755884266	missense variant	-	NC_000017.11:g.65538334G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg357His	rs8081536	missense variant	-	NC_000017.11:g.65538333C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Lys360Glu	rs1377592999	missense variant	-	NC_000017.11:g.65538325T>C	TOPMed
AXIN2	Q9Y2T1	p.Lys360Arg	rs146249973	missense variant	-	NC_000017.11:g.65538324T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met362Ile	rs750414544	missense variant	-	NC_000017.11:g.65538317C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Val365Leu	rs761901627	missense variant	-	NC_000017.11:g.65538310C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Val365Met	rs761901627	missense variant	-	NC_000017.11:g.65538310C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu366Gly	rs764414708	missense variant	-	NC_000017.11:g.65538306T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro367His	rs1330131800	missense variant	-	NC_000017.11:g.65538303G>T	gnomAD
AXIN2	Q9Y2T1	p.Ala368Gly	rs1480983759	missense variant	-	NC_000017.11:g.65538300G>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala368Thr	rs772636882	missense variant	-	NC_000017.11:g.65538301C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala368Val	rs1480983759	missense variant	-	NC_000017.11:g.65538300G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala368Pro	COSM6081720	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65538301C>G	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Thr369Ala	rs759128363	missense variant	-	NC_000017.11:g.65538298T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr369Pro	rs759128363	missense variant	-	NC_000017.11:g.65538298T>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr369Ile	rs898166595	missense variant	-	NC_000017.11:g.65538297G>A	TOPMed
AXIN2	Q9Y2T1	p.Ala371Thr	rs1555578525	missense variant	-	NC_000017.11:g.65538292C>T	-
AXIN2	Q9Y2T1	p.Ile375Met	rs748945736	missense variant	-	NC_000017.11:g.65538278G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ile375Thr	rs770644676	missense variant	-	NC_000017.11:g.65538279A>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ile375Ser	rs770644676	missense variant	-	NC_000017.11:g.65538279A>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser376Trp	rs772908702	missense variant	-	NC_000017.11:g.65538276G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser376Leu	rs772908702	missense variant	-	NC_000017.11:g.65538276G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg377Lys	rs1555578512	missense variant	-	NC_000017.11:g.65538273C>T	-
AXIN2	Q9Y2T1	p.Leu378Val	rs1555578508	missense variant	-	NC_000017.11:g.65538271G>C	-
AXIN2	Q9Y2T1	p.Lys382Arg	rs878854717	missense variant	-	NC_000017.11:g.65538258T>C	-
AXIN2	Q9Y2T1	p.Glu384Gly	rs1555578490	missense variant	-	NC_000017.11:g.65538252T>C	-
AXIN2	Q9Y2T1	p.Glu386Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.65538247C>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Glu386Gln	rs1173549577	missense variant	-	NC_000017.11:g.65538247C>G	TOPMed
AXIN2	Q9Y2T1	p.Arg388His	rs368502813	missense variant	-	NC_000017.11:g.65538240C>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg388Cys	rs886053273	missense variant	-	NC_000017.11:g.65538241G>A	-
AXIN2	Q9Y2T1	p.Arg388Leu	rs368502813	missense variant	-	NC_000017.11:g.65538240C>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His389Pro	rs1060502142	missense variant	-	NC_000017.11:g.65538237T>G	gnomAD
AXIN2	Q9Y2T1	p.His389Arg	rs1060502142	missense variant	-	NC_000017.11:g.65538237T>C	gnomAD
AXIN2	Q9Y2T1	p.Ser390Gly	rs139871607	missense variant	-	NC_000017.11:g.65538235T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser390Ile	rs778900546	missense variant	-	NC_000017.11:g.65538234C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser390Asn	rs778900546	missense variant	-	NC_000017.11:g.65538234C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Leu391Pro	rs370821074	missense variant	-	NC_000017.11:g.65538231A>G	ESP,ExAC
AXIN2	Q9Y2T1	p.Glu393Lys	rs1555578459	missense variant	-	NC_000017.11:g.65538226C>T	-
AXIN2	Q9Y2T1	p.Glu393Asp	rs922684515	missense variant	-	NC_000017.11:g.65538224C>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg394His	rs200899695	missense variant	-	NC_000017.11:g.65538222C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg394Cys	rs753049092	missense variant	-	NC_000017.11:g.65538223G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Leu395Val	rs373087123	missense variant	-	NC_000017.11:g.65538220G>C	ESP,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu395Pro	rs1555578450	missense variant	-	NC_000017.11:g.65538219A>G	-
AXIN2	Q9Y2T1	p.Gln396Leu	rs914102463	missense variant	-	NC_000017.11:g.65538216T>A	TOPMed
AXIN2	Q9Y2T1	p.Gln396Glu	rs759917468	missense variant	-	NC_000017.11:g.65538217G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln397Arg	rs774887154	missense variant	-	NC_000017.11:g.65538213T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln397His	rs1360433499	missense variant	-	NC_000017.11:g.65538212C>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg399Ter	rs1157452251	stop gained	-	NC_000017.11:g.65538208G>A	gnomAD
AXIN2	Q9Y2T1	p.Arg399Gln	rs765865516	missense variant	-	NC_000017.11:g.65538207C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu400Gln	rs989632217	missense variant	-	NC_000017.11:g.65538205C>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu400Gly	rs762522074	missense variant	-	NC_000017.11:g.65538204T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp401Val	rs772221969	missense variant	-	NC_000017.11:g.65537834T>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asp401Gly	rs772221969	missense variant	-	NC_000017.11:g.65537834T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu402Gly	rs1555578158	missense variant	-	NC_000017.11:g.65537831T>C	-
AXIN2	Q9Y2T1	p.Glu403Asp	rs774657791	missense variant	-	NC_000017.11:g.65537827C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu403Asp	rs774657791	missense variant	-	NC_000017.11:g.65537827C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu403Lys	rs1196309364	missense variant	-	NC_000017.11:g.65537829C>T	gnomAD
AXIN2	Q9Y2T1	p.Glu403Gln	rs1196309364	missense variant	-	NC_000017.11:g.65537829C>G	gnomAD
AXIN2	Q9Y2T1	p.Glu405Ala	rs376701878	missense variant	-	NC_000017.11:g.65537822T>G	ESP,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu405GlyPheSerTerUnkUnk	rs771001164	frameshift	-	NC_000017.11:g.65537821_65537822CT>-	NCI-TCGA,NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Gly406Val	rs1487575935	missense variant	-	NC_000017.11:g.65537819C>A	gnomAD
AXIN2	Q9Y2T1	p.Gly406ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65537820_65537821insCT	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser407Ala	rs1205776646	missense variant	-	NC_000017.11:g.65537817A>C	gnomAD
AXIN2	Q9Y2T1	p.Ser407Phe	rs1349969629	missense variant	-	NC_000017.11:g.65537816G>A	TOPMed
AXIN2	Q9Y2T1	p.Glu408Lys	rs749846538	missense variant	-	NC_000017.11:g.65537814C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Leu409Val	rs1555578122	missense variant	-	NC_000017.11:g.65537811G>C	-
AXIN2	Q9Y2T1	p.Leu409Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65537811G>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Leu409Phe	COSM3521037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65537811G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Thr410Ala	rs1265240757	missense variant	-	NC_000017.11:g.65537808T>C	TOPMed
AXIN2	Q9Y2T1	p.Thr410Ile	rs1555578117	missense variant	-	NC_000017.11:g.65537807G>A	-
AXIN2	Q9Y2T1	p.Asn412Ser	rs115931022	missense variant	-	NC_000017.11:g.65537801T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asn412Thr	rs115931022	missense variant	-	NC_000017.11:g.65537801T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser413Leu	rs1399215718	missense variant	-	NC_000017.11:g.65537798G>A	gnomAD
AXIN2	Q9Y2T1	p.Arg414Leu	rs758255310	missense variant	-	NC_000017.11:g.65537795C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg414Trp	rs751229839	missense variant	-	NC_000017.11:g.65537796G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg414Gln	rs758255310	missense variant	-	NC_000017.11:g.65537795C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu415Gly	rs1170393408	missense variant	-	NC_000017.11:g.65537792T>C	gnomAD
AXIN2	Q9Y2T1	p.Glu415Asp	rs1470769065	missense variant	-	NC_000017.11:g.65537791C>A	gnomAD
AXIN2	Q9Y2T1	p.Gly416Arg	rs765015663	missense variant	-	NC_000017.11:g.65537790C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly416Val	rs1170381329	missense variant	-	NC_000017.11:g.65537789C>A	gnomAD
AXIN2	Q9Y2T1	p.Gly416Glu	rs1170381329	missense variant	-	NC_000017.11:g.65537789C>T	gnomAD
AXIN2	Q9Y2T1	p.Ala417Val	rs201460658	missense variant	-	NC_000017.11:g.65537786G>A	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala417ArgPheSerTerUnkUnk	COSM1385331	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65537787C>-	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Pro418Ser	COSM5143807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65537784G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Thr419Met	rs759790948	missense variant	-	NC_000017.11:g.65537780G>A	ExAC
AXIN2	Q9Y2T1	p.Gln420Glu	rs1555578074	missense variant	-	NC_000017.11:g.65537778G>C	-
AXIN2	Q9Y2T1	p.Gln420Pro	rs774530969	missense variant	-	NC_000017.11:g.65537777T>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln420His	rs771340546	missense variant	-	NC_000017.11:g.65537776C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gln420Arg	rs774530969	missense variant	-	NC_000017.11:g.65537777T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.His421Tyr	rs1441857871	missense variant	-	NC_000017.11:g.65537775G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro422Ser	rs878854718	missense variant	-	NC_000017.11:g.65537772G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro422Thr	rs878854718	missense variant	-	NC_000017.11:g.65537772G>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro422Ala	rs878854718	missense variant	-	NC_000017.11:g.65537772G>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu423Phe	rs376630432	missense variant	-	NC_000017.11:g.65537769G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu423Val	rs376630432	missense variant	-	NC_000017.11:g.65537769G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser424Phe	rs780894296	missense variant	-	NC_000017.11:g.65537765G>A	ExAC
AXIN2	Q9Y2T1	p.Leu425Pro	rs878854719	missense variant	-	NC_000017.11:g.65537762A>G	-
AXIN2	Q9Y2T1	p.Pro427Leu	rs1309062534	missense variant	-	NC_000017.11:g.65537756G>A	TOPMed
AXIN2	Q9Y2T1	p.Ser428Cys	rs1426652719	missense variant	-	NC_000017.11:g.65537753G>C	gnomAD
AXIN2	Q9Y2T1	p.Ser428Pro	rs573134328	missense variant	-	NC_000017.11:g.65537754A>G	-
AXIN2	Q9Y2T1	p.Gly429Ser	rs773119996	missense variant	-	NC_000017.11:g.65537751C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly429Cys	rs773119996	missense variant	-	NC_000017.11:g.65537751C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser430Thr	rs202215840	missense variant	-	NC_000017.11:g.65537747C>G	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser430Asn	rs202215840	missense variant	-	NC_000017.11:g.65537747C>T	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr431Asn	rs372987093	missense variant	-	NC_000017.11:g.65537745A>T	ESP,ExAC,TOPMed
AXIN2	Q9Y2T1	p.Tyr431Cys	rs866813817	missense variant	-	NC_000017.11:g.65537744T>C	gnomAD
AXIN2	Q9Y2T1	p.Glu432Lys	rs751843834	missense variant	-	NC_000017.11:g.65537742C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu433Val	rs1472777958	missense variant	-	NC_000017.11:g.65537738T>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu433Gln	rs1168951676	missense variant	-	NC_000017.11:g.65537739C>G	gnomAD
AXIN2	Q9Y2T1	p.Pro435Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65537732G>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Pro435Ser	rs1451720453	missense variant	-	NC_000017.11:g.65537733G>A	TOPMed
AXIN2	Q9Y2T1	p.Thr437Ser	rs1445382048	missense variant	-	NC_000017.11:g.65537727T>A	gnomAD
AXIN2	Q9Y2T1	p.Asp441Asn	rs1555577991	missense variant	-	NC_000017.11:g.65537715C>T	-
AXIN2	Q9Y2T1	p.Asp441Gly	rs1274892456	missense variant	-	NC_000017.11:g.65537714T>C	gnomAD
AXIN2	Q9Y2T1	p.Leu447Phe	rs1363731706	missense variant	-	NC_000017.11:g.65537697G>A	TOPMed
AXIN2	Q9Y2T1	p.Thr449Ser	rs1247527031	missense variant	-	NC_000017.11:g.65537690G>C	gnomAD
AXIN2	Q9Y2T1	p.Pro450His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65537687G>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Pro450Leu	rs777265234	missense variant	-	NC_000017.11:g.65537687G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly451Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65537684C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Gly451Ala	rs768349653	missense variant	-	NC_000017.11:g.65537684C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly451Ser	rs1439603213	missense variant	-	NC_000017.11:g.65537685C>T	gnomAD
AXIN2	Q9Y2T1	p.Pro455Ser	rs779863826	missense variant	-	NC_000017.11:g.65537673G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro455Ala	rs779863826	missense variant	-	NC_000017.11:g.65537673G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro455Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65537672G>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Gly456Ala	rs1060502144	missense variant	-	NC_000017.11:g.65537669C>G	-
AXIN2	Q9Y2T1	p.Val457Ala	rs1450569717	missense variant	-	NC_000017.11:g.65537666A>G	TOPMed
AXIN2	Q9Y2T1	p.Val457Ile	rs778612433	missense variant	-	NC_000017.11:g.65537667C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly458Cys	rs753827256	missense variant	-	NC_000017.11:g.65537664C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly458Asp	rs1233713623	missense variant	-	NC_000017.11:g.65537663C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg459Gly	rs777680532	missense variant	-	NC_000017.11:g.65537661G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg459Leu	rs368525111	missense variant	-	NC_000017.11:g.65537660C>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg459His	rs368525111	missense variant	-	NC_000017.11:g.65537660C>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg459Cys	rs777680532	missense variant	-	NC_000017.11:g.65537661G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg459Pro	rs368525111	missense variant	-	NC_000017.11:g.65537660C>G	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg459Ser	rs777680532	missense variant	-	NC_000017.11:g.65537661G>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Tyr460Cys	rs1032366089	missense variant	-	NC_000017.11:g.65537657T>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser461Ile	rs1359477325	missense variant	-	NC_000017.11:g.65537654C>A	gnomAD
AXIN2	Q9Y2T1	p.ProArg462ProCys	rs1555577922	missense variant	-	NC_000017.11:g.65537649_65537650delinsAA	-
AXIN2	Q9Y2T1	p.Pro462Thr	rs1060502156	missense variant	-	NC_000017.11:g.65537652G>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro462Ser	rs1060502156	missense variant	-	NC_000017.11:g.65537652G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro462His	rs758592586	missense variant	-	NC_000017.11:g.65537651G>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg463Cys	rs730881395	missense variant	-	NC_000017.11:g.65537649G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg463Pro	rs1060502150	missense variant	-	NC_000017.11:g.65537648C>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg463His	rs1060502150	missense variant	-	NC_000017.11:g.65537648C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg463Gly	rs730881395	missense variant	-	NC_000017.11:g.65537649G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser464Phe	rs777283610	missense variant	-	NC_000017.11:g.65537645G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser464Pro	rs762233852	missense variant	-	NC_000017.11:g.65537646A>G	ExAC
AXIN2	Q9Y2T1	p.Arg465His	rs764640447	missense variant	-	NC_000017.11:g.65537642C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg465Ser	rs886041137	missense variant	-	NC_000017.11:g.65537643G>T	gnomAD
AXIN2	Q9Y2T1	p.Arg465Cys	rs886041137	missense variant	-	NC_000017.11:g.65537643G>A	gnomAD
AXIN2	Q9Y2T1	p.Arg465Leu	rs764640447	missense variant	-	NC_000017.11:g.65537642C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser466Cys	rs1064793954	missense variant	-	NC_000017.11:g.65537639G>C	gnomAD
AXIN2	Q9Y2T1	p.Ser466Phe	rs1064793954	missense variant	-	NC_000017.11:g.65537639G>A	gnomAD
AXIN2	Q9Y2T1	p.Pro467Leu	rs908388069	missense variant	-	NC_000017.11:g.65537636G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp468Asn	rs1477541377	missense variant	-	NC_000017.11:g.65537634C>T	gnomAD
AXIN2	Q9Y2T1	p.His469Tyr	rs1266538607	missense variant	-	NC_000017.11:g.65537631G>A	gnomAD
AXIN2	Q9Y2T1	p.His469Arg	rs745555433	missense variant	-	NC_000017.11:g.65537630T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.His471Tyr	rs544255284	missense variant	-	NC_000017.11:g.65537625G>A	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His472Arg	rs749012756	missense variant	-	NC_000017.11:g.65537621T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.His473Tyr	rs777699064	missense variant	-	NC_000017.11:g.65537619G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.His474Arg	rs756008626	missense variant	-	NC_000017.11:g.65537615T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.His474Tyr	rs1060502132	missense variant	-	NC_000017.11:g.65537616G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser475Trp	rs950007141	missense variant	-	NC_000017.11:g.65537612G>C	gnomAD
AXIN2	Q9Y2T1	p.Ser475PhePheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65537612_65537613insA	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser475Leu	rs950007141	missense variant	-	NC_000017.11:g.65537612G>A	gnomAD
AXIN2	Q9Y2T1	p.Gln476SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65537610_65537611insCTACT	NCI-TCGA
AXIN2	Q9Y2T1	p.Gln476His	rs1285545891	missense variant	-	NC_000017.11:g.65537608C>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr477His	rs1555577851	missense variant	-	NC_000017.11:g.65537607A>G	-
AXIN2	Q9Y2T1	p.His478Arg	rs1405985775	missense variant	-	NC_000017.11:g.65537603T>C	gnomAD
AXIN2	Q9Y2T1	p.Ser479Tyr	rs137933764	missense variant	-	NC_000017.11:g.65537600G>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu481Pro	rs1555577842	missense variant	-	NC_000017.11:g.65537594A>G	-
AXIN2	Q9Y2T1	p.Leu481Phe	rs1345875693	missense variant	-	NC_000017.11:g.65537595G>A	gnomAD
AXIN2	Q9Y2T1	p.Pro482Leu	rs758495825	missense variant	-	NC_000017.11:g.65537591G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro483His	rs530465133	missense variant	-	NC_000017.11:g.65537588G>T	1000Genomes,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro483Arg	rs530465133	missense variant	-	NC_000017.11:g.65537588G>C	1000Genomes,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro483Ser	rs1555577827	missense variant	-	NC_000017.11:g.65537589G>A	-
AXIN2	Q9Y2T1	p.Gly484Ser	rs371446806	missense variant	-	NC_000017.11:g.65537586C>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu487Val	rs754204017	missense variant	-	NC_000017.11:g.65537577G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu487Gln	rs1555577817	missense variant	-	NC_000017.11:g.65537576A>T	-
AXIN2	Q9Y2T1	p.Pro489Ser	rs764728243	missense variant	-	NC_000017.11:g.65537571G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro489Leu	COSM3890203	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65537570G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Ala490Val	rs1242238043	missense variant	-	NC_000017.11:g.65537567G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala490Thr	rs1486551074	missense variant	-	NC_000017.11:g.65537568C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala491Val	rs1064794048	missense variant	-	NC_000017.11:g.65537564G>A	-
AXIN2	Q9Y2T1	p.Ala491Thr	rs761303245	missense variant	-	NC_000017.11:g.65537565C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala492Pro	rs1555577797	missense variant	-	NC_000017.11:g.65537562C>G	-
AXIN2	Q9Y2T1	p.Ser493Leu	rs367697282	missense variant	-	NC_000017.11:g.65537558G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser493Trp	rs367697282	missense variant	-	NC_000017.11:g.65537558G>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro494Arg	rs730881396	missense variant	-	NC_000017.11:g.65537555G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro494Leu	rs730881396	missense variant	-	NC_000017.11:g.65537555G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly495Ser	rs372513593	missense variant	-	NC_000017.11:g.65537553C>T	-
AXIN2	Q9Y2T1	p.Ala496Asp	rs1408492605	missense variant	-	NC_000017.11:g.65537549G>T	gnomAD
AXIN2	Q9Y2T1	p.Ala496Thr	rs773033390	missense variant	-	NC_000017.11:g.65537550C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala496Ser	rs773033390	missense variant	-	NC_000017.11:g.65537550C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Cys497Tyr	rs769558841	missense variant	-	NC_000017.11:g.65537546C>T	ExAC
AXIN2	Q9Y2T1	p.Pro498Arg	rs1555577765	missense variant	-	NC_000017.11:g.65537543G>C	-
AXIN2	Q9Y2T1	p.Pro498Ser	rs1279915902	missense variant	-	NC_000017.11:g.65537544G>A	TOPMed
AXIN2	Q9Y2T1	p.Leu499Val	rs1168199442	missense variant	-	NC_000017.11:g.65537541G>C	gnomAD
AXIN2	Q9Y2T1	p.Leu499Pro	rs781185996	missense variant	-	NC_000017.11:g.65537540A>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Leu499ProPheSerTerUnkUnkUnk	COSM1385329	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65537540_65537541insG	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Leu500Arg	rs758413474	missense variant	-	NC_000017.11:g.65537537A>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly501Val	rs779029020	missense variant	-	NC_000017.11:g.65537534C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly501Glu	rs779029020	missense variant	-	NC_000017.11:g.65537534C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly502Cys	rs978541876	missense variant	-	NC_000017.11:g.65537532C>A	-
AXIN2	Q9Y2T1	p.Gly504Asp	rs754079144	missense variant	-	NC_000017.11:g.65537525C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly504Arg	rs757512425	missense variant	-	NC_000017.11:g.65537526C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly504Ser	rs757512425	missense variant	-	NC_000017.11:g.65537526C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val506Met	rs1250017056	missense variant	-	NC_000017.11:g.65537520C>T	gnomAD
AXIN2	Q9Y2T1	p.Thr507Ile	rs1207102247	missense variant	-	NC_000017.11:g.65537516G>A	gnomAD
AXIN2	Q9Y2T1	p.Gln509Arg	rs778327226	missense variant	-	NC_000017.11:g.65537510T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr510Met	rs367938045	missense variant	-	NC_000017.11:g.65537507G>A	ESP,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr511Ser	rs376936740	missense variant	-	NC_000017.11:g.65537505T>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr511Ala	rs376936740	missense variant	-	NC_000017.11:g.65537505T>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr511Met	rs200883019	missense variant	-	NC_000017.11:g.65537504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Lys512Asn	rs1235854145	missense variant	-	NC_000017.11:g.65537500C>A	TOPMed
AXIN2	Q9Y2T1	p.His515Tyr	rs1274418296	missense variant	-	NC_000017.11:g.65537493G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His516Arg	rs864622657	missense variant	-	NC_000017.11:g.65537489T>C	gnomAD
AXIN2	Q9Y2T1	p.His516Pro	rs864622657	missense variant	-	NC_000017.11:g.65537489T>G	gnomAD
AXIN2	Q9Y2T1	p.His516Tyr	rs1555577714	missense variant	-	NC_000017.11:g.65537490G>A	-
AXIN2	Q9Y2T1	p.His517Leu	rs769644525	missense variant	-	NC_000017.11:g.65537486T>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.His517Tyr	rs1209270565	missense variant	-	NC_000017.11:g.65537487G>A	TOPMed
AXIN2	Q9Y2T1	p.His517Arg	rs769644525	missense variant	-	NC_000017.11:g.65537486T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Tyr518Cys	rs368289818	missense variant	-	NC_000017.11:g.65537483T>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr518Asn	rs761534462	missense variant	-	NC_000017.11:g.65537484A>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ile519Leu	rs146769008	missense variant	-	NC_000017.11:g.65537481T>G	ESP,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ile519Val	rs146769008	missense variant	-	NC_000017.11:g.65537481T>C	ESP,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ile519Met	rs374444786	missense variant	-	NC_000017.11:g.65537479G>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His522Asp	rs1060502128	missense variant	-	NC_000017.11:g.65537472G>C	TOPMed
AXIN2	Q9Y2T1	p.Ala523Thr	rs1555577694	missense variant	-	NC_000017.11:g.65537469C>T	-
AXIN2	Q9Y2T1	p.Val524Asp	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65537465A>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Val524Gly	rs1333327285	missense variant	-	NC_000017.11:g.65537465A>C	gnomAD
AXIN2	Q9Y2T1	p.Pro525Leu	rs749576519	missense variant	-	NC_000017.11:g.65537462G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro525Ala	rs73346297	missense variant	-	NC_000017.11:g.65537463G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro525Arg	rs749576519	missense variant	-	NC_000017.11:g.65537462G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys526Arg	rs778137043	missense variant	-	NC_000017.11:g.65537459T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys526Asn	rs1555577678	missense variant	-	NC_000017.11:g.65537458C>G	-
AXIN2	Q9Y2T1	p.Thr527Ile	rs1435184211	missense variant	-	NC_000017.11:g.65537456G>A	TOPMed
AXIN2	Q9Y2T1	p.Lys528Arg	rs878854722	missense variant	-	NC_000017.11:g.65537453T>C	gnomAD
AXIN2	Q9Y2T1	p.Lys528Glu	rs756551019	missense variant	-	NC_000017.11:g.65537454T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu529Gly	rs1060502133	missense variant	-	NC_000017.11:g.65537450T>C	-
AXIN2	Q9Y2T1	p.Glu530Ala	rs753046140	missense variant	-	NC_000017.11:g.65537447T>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu532Lys	rs755551294	missense variant	-	NC_000017.11:g.65537442C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu532Asp	rs368522825	missense variant	-	NC_000017.11:g.65537440C>G	gnomAD
AXIN2	Q9Y2T1	p.Glu532Ter	rs755551294	stop gained	-	NC_000017.11:g.65537442C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala533Val	rs147716924	missense variant	-	NC_000017.11:g.65537438G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala533Thr	rs1376819064	missense variant	-	NC_000017.11:g.65537439C>T	TOPMed
AXIN2	Q9Y2T1	p.Ala535Thr	rs1392915734	missense variant	-	NC_000017.11:g.65537433C>T	gnomAD
AXIN2	Q9Y2T1	p.Thr536Ser	rs1373860602	missense variant	-	NC_000017.11:g.65537430T>A	gnomAD
AXIN2	Q9Y2T1	p.Thr536Met	rs750084404	missense variant	-	NC_000017.11:g.65537429G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln537Glu	rs1428503249	missense variant	-	NC_000017.11:g.65537427G>C	TOPMed
AXIN2	Q9Y2T1	p.Arg538Trp	rs761539571	missense variant	-	NC_000017.11:g.65537424G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg538Gly	rs761539571	missense variant	-	NC_000017.11:g.65537424G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg538Pro	rs1064793764	missense variant	-	NC_000017.11:g.65537423C>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg538Gln	rs1064793764	missense variant	-	NC_000017.11:g.65537423C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val539Leu	rs9913621	missense variant	-	NC_000017.11:g.65537421C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val539Met	rs9913621	missense variant	-	NC_000017.11:g.65537421C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His540Asn	rs573731155	missense variant	-	NC_000017.11:g.65537418G>T	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His540Arg	rs1330822418	missense variant	-	NC_000017.11:g.65537417T>C	TOPMed
AXIN2	Q9Y2T1	p.His540Gln	rs900138742	missense variant	-	NC_000017.11:g.65537416G>C	TOPMed
AXIN2	Q9Y2T1	p.Cys541Arg	rs760712196	missense variant	-	NC_000017.11:g.65537415A>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Phe542Val	rs771197210	missense variant	-	NC_000017.11:g.65537412A>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Cys543Tyr	rs749312775	missense variant	-	NC_000017.11:g.65537408C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Cys543Phe	rs749312775	missense variant	-	NC_000017.11:g.65537408C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro544Ser	rs778153491	missense variant	-	NC_000017.11:g.65537406G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro544Leu	rs1060502139	missense variant	-	NC_000017.11:g.65537405G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly545Ala	rs781658851	missense variant	-	NC_000017.11:g.65537402C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly545Trp	rs148951121	missense variant	-	NC_000017.11:g.65537403C>A	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly545Arg	rs148951121	missense variant	-	NC_000017.11:g.65537403C>T	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly545Glu	rs781658851	missense variant	-	NC_000017.11:g.65537402C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly546Asp	rs145717795	missense variant	-	NC_000017.11:g.65537399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly546Val	rs145717795	missense variant	-	NC_000017.11:g.65537399C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly546Ser	rs780472818	missense variant	-	NC_000017.11:g.65537400C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly546Cys	rs780472818	missense variant	-	NC_000017.11:g.65537400C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser547Asn	rs764903794	missense variant	-	NC_000017.11:g.65537396C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser547Thr	rs764903794	missense variant	-	NC_000017.11:g.65537396C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu548Gly	rs753407346	missense variant	-	NC_000017.11:g.65537393T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu548Lys	rs367624903	missense variant	-	NC_000017.11:g.65537394C>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu548AspPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65537392C>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Glu548Ter	rs367624903	stop gained	-	NC_000017.11:g.65537394C>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr549Cys	rs1369622684	missense variant	-	NC_000017.11:g.65537390T>C	TOPMed
AXIN2	Q9Y2T1	p.Tyr550Asp	rs571713474	missense variant	-	NC_000017.11:g.65537388A>C	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Cys551Arg	rs730881398	missense variant	-	NC_000017.11:g.65537385A>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr552Cys	rs1290240825	missense variant	-	NC_000017.11:g.65537381T>C	gnomAD
AXIN2	Q9Y2T1	p.Ser553Leu	rs1453965356	missense variant	-	NC_000017.11:g.65537378G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser553Trp	rs1453965356	missense variant	-	NC_000017.11:g.65537378G>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Cys555Arg	rs1481627494	missense variant	-	NC_000017.11:g.65537373A>G	gnomAD
AXIN2	Q9Y2T1	p.Cys555Trp	rs562421443	missense variant	-	NC_000017.11:g.65537371G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Cys555Tyr	rs1224506094	missense variant	-	NC_000017.11:g.65537372C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His558Leu	rs1555577588	missense variant	-	NC_000017.11:g.65537363T>A	-
AXIN2	Q9Y2T1	p.Ser559Thr	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65537361A>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser559Cys	rs1060502126	missense variant	-	NC_000017.11:g.65537360G>C	gnomAD
AXIN2	Q9Y2T1	p.Lys560Thr	rs769741903	missense variant	-	NC_000017.11:g.65537357T>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala561Val	rs1444558946	missense variant	-	NC_000017.11:g.65537354G>A	gnomAD
AXIN2	Q9Y2T1	p.Pro562Ser	rs1461001184	missense variant	-	NC_000017.11:g.65537352G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro562Leu	rs149764887	missense variant	-	NC_000017.11:g.65537351G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr564Ala	rs139414862	missense variant	-	NC_000017.11:g.65537346T>C	ESP,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Met565Lys	rs534983760	missense variant	-	NC_000017.11:g.65537342A>T	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Met565Thr	rs534983760	missense variant	-	NC_000017.11:g.65537342A>G	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Met565Ile	rs886041138	missense variant	-	NC_000017.11:g.65537341C>T	TOPMed
AXIN2	Q9Y2T1	p.Phe570Ser	rs1297040678	missense variant	-	NC_000017.11:g.65537327A>G	gnomAD
AXIN2	Q9Y2T1	p.Phe570Val	rs373442399	missense variant	-	NC_000017.11:g.65537328A>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly571Asp	rs146744662	missense variant	-	NC_000017.11:g.65537324C>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly572Cys	rs753824435	missense variant	-	NC_000017.11:g.65537062C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly572Ser	rs753824435	missense variant	-	NC_000017.11:g.65537062C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser573Asn	rs1165490589	missense variant	-	NC_000017.11:g.65537058C>T	gnomAD
AXIN2	Q9Y2T1	p.Arg574Lys	rs1425391968	missense variant	-	NC_000017.11:g.65537055C>T	gnomAD
AXIN2	Q9Y2T1	p.Arg574Thr	rs1425391968	missense variant	-	NC_000017.11:g.65537055C>G	gnomAD
AXIN2	Q9Y2T1	p.Ser576Asn	rs764205632	missense variant	-	NC_000017.11:g.65537049C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser576Thr	rs764205632	missense variant	-	NC_000017.11:g.65537049C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr577Ile	rs760939811	missense variant	-	NC_000017.11:g.65537046G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Leu578Phe	rs775673863	missense variant	-	NC_000017.11:g.65537042C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro579Ser	rs1234437759	missense variant	-	NC_000017.11:g.65537041G>A	gnomAD
AXIN2	Q9Y2T1	p.Lys580Arg	rs772490357	missense variant	-	NC_000017.11:g.65537037T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg581Cys	rs759825875	missense variant	-	NC_000017.11:g.65537035G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg581ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65537035_65537036insT	NCI-TCGA
AXIN2	Q9Y2T1	p.Arg581His	rs730881399	missense variant	-	NC_000017.11:g.65537034C>T	gnomAD
AXIN2	Q9Y2T1	p.Asn582Asp	rs567511335	missense variant	-	NC_000017.11:g.65537032T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asn582His	rs567511335	missense variant	-	NC_000017.11:g.65537032T>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly583Arg	rs748860876	missense variant	-	NC_000017.11:g.65537029C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly583Glu	rs777186938	missense variant	-	NC_000017.11:g.65537028C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys584Thr	rs769404267	missense variant	-	NC_000017.11:g.65537025T>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr586Ala	rs747878470	missense variant	-	NC_000017.11:g.65537020T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu587Gln	rs1344107562	missense variant	-	NC_000017.11:g.65537017C>G	gnomAD
AXIN2	Q9Y2T1	p.Pro588Leu	rs1305562386	missense variant	-	NC_000017.11:g.65537013G>A	gnomAD
AXIN2	Q9Y2T1	p.Leu590Gln	rs1316456738	missense variant	-	NC_000017.11:g.65537007A>T	gnomAD
AXIN2	Q9Y2T1	p.Leu590Val	rs1344737332	missense variant	-	NC_000017.11:g.65537008G>C	gnomAD
AXIN2	Q9Y2T1	p.Ala591Val	rs1439853340	missense variant	-	NC_000017.11:g.65537004G>A	TOPMed
AXIN2	Q9Y2T1	p.Ala591Ser	rs754833574	missense variant	-	NC_000017.11:g.65537005C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala591Thr	rs754833574	missense variant	-	NC_000017.11:g.65537005C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu592Val	rs1159551938	missense variant	-	NC_000017.11:g.65537002G>C	gnomAD
AXIN2	Q9Y2T1	p.Ala594Thr	rs876660965	missense variant	-	NC_000017.11:g.65536996C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg595Gly	rs1555577433	missense variant	-	NC_000017.11:g.65536993T>C	-
AXIN2	Q9Y2T1	p.Glu596Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65536990C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Ala599Pro	rs1060502129	missense variant	-	NC_000017.11:g.65536981C>G	-
AXIN2	Q9Y2T1	p.Ala599Asp	rs1478055553	missense variant	-	NC_000017.11:g.65536980G>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala599Val	rs1478055553	missense variant	-	NC_000017.11:g.65536980G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala599ProPheSerTerUnkUnk	COSM4747370	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65536981C>-	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Pro600Ser	rs1555577425	missense variant	-	NC_000017.11:g.65536978G>A	-
AXIN2	Q9Y2T1	p.Gly601Ser	rs750354919	missense variant	-	NC_000017.11:g.65536975C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly601Cys	rs750354919	missense variant	-	NC_000017.11:g.65536975C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly601Ala	rs764140840	missense variant	-	NC_000017.11:g.65536974C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly602Val	rs752917795	missense variant	-	NC_000017.11:g.65536971C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly602Arg	rs1203434475	missense variant	-	NC_000017.11:g.65536972C>T	gnomAD
AXIN2	Q9Y2T1	p.Gly602Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.65536972C>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Ala603Pro	rs145353986	missense variant	-	NC_000017.11:g.65536969C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala605Asp	rs1268443604	missense variant	-	NC_000017.11:g.65536962G>T	gnomAD
AXIN2	Q9Y2T1	p.Ala605Ser	rs763417360	missense variant	-	NC_000017.11:g.65536963C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala605Thr	rs763417360	missense variant	-	NC_000017.11:g.65536963C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala605Val	COSM4068781	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65536962G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Leu606Val	rs1057522718	missense variant	-	NC_000017.11:g.65536960G>C	TOPMed
AXIN2	Q9Y2T1	p.Gln607His	rs1242108165	missense variant	-	NC_000017.11:g.65536955C>G	TOPMed
AXIN2	Q9Y2T1	p.Pro609Ser	rs1389567952	missense variant	-	NC_000017.11:g.65536951G>A	gnomAD
AXIN2	Q9Y2T1	p.Pro609Leu	rs370618491	missense variant	-	NC_000017.11:g.65536950G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg610Gln	rs376248072	missense variant	-	NC_000017.11:g.65536947C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg610Pro	rs376248072	missense variant	-	NC_000017.11:g.65536947C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg610Trp	rs776445861	missense variant	-	NC_000017.11:g.65536948G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg610Leu	rs376248072	missense variant	-	NC_000017.11:g.65536947C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu611Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65536945C>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Gly613Arg	rs1163092585	missense variant	-	NC_000017.11:g.65536939C>G	TOPMed
AXIN2	Q9Y2T1	p.Asp614Glu	rs373339394	missense variant	-	NC_000017.11:g.65536934G>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp614His	COSM3820278	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65536936C>G	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Arg615Lys	rs758202890	missense variant	-	NC_000017.11:g.65536932C>T	ExAC
AXIN2	Q9Y2T1	p.Ser616Leu	rs1555577386	missense variant	-	NC_000017.11:g.65536929G>A	-
AXIN2	Q9Y2T1	p.Val619Ile	rs745857521	missense variant	-	NC_000017.11:g.65536921C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Val619Ala	rs1476148267	missense variant	-	NC_000017.11:g.65536920A>G	gnomAD
AXIN2	Q9Y2T1	p.Val619Gly	rs1476148267	missense variant	-	NC_000017.11:g.65536920A>C	gnomAD
AXIN2	Q9Y2T1	p.Met623Thr	rs752721451	missense variant	-	NC_000017.11:g.65536908A>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu625Ala	rs1460236827	missense variant	-	NC_000017.11:g.65536902T>G	gnomAD
AXIN2	Q9Y2T1	p.Ser626Arg	rs767756290	missense variant	-	NC_000017.11:g.65536898A>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg628Trp	rs200201811	missense variant	-	NC_000017.11:g.65536894G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gln629Arg	rs751781253	missense variant	-	NC_000017.11:g.65536890T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser630Gly	rs763312277	missense variant	-	NC_000017.11:g.65536888T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser630Asn	rs578156841	missense variant	-	NC_000017.11:g.65536887C>T	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Lys631Asn	rs761440645	missense variant	-	NC_000017.11:g.65536883C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys631Thr	rs139945372	missense variant	-	NC_000017.11:g.65536884T>G	ESP,ExAC,TOPMed
AXIN2	Q9Y2T1	p.Lys631Glu	rs1555577360	missense variant	-	NC_000017.11:g.65536885T>C	-
AXIN2	Q9Y2T1	p.Lys633Asn	rs150557228	missense variant	-	NC_000017.11:g.65536877C>A	ESP,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys633Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65536878T>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Pro634Leu	rs373042042	missense variant	-	NC_000017.11:g.65536875G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro634Thr	rs141699123	missense variant	-	NC_000017.11:g.65536876G>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro634Arg	rs373042042	missense variant	-	NC_000017.11:g.65536875G>C	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro634Ser	rs141699123	missense variant	-	NC_000017.11:g.65536876G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His635Arg	rs775207779	missense variant	-	NC_000017.11:g.65536872T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser636Gly	rs745616808	missense variant	-	NC_000017.11:g.65536870T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala637Thr	rs1329676241	missense variant	-	NC_000017.11:g.65536552C>T	gnomAD
AXIN2	Q9Y2T1	p.Gln638Ter	NCI-TCGA novel	stop gained	-	NC_000017.11:g.65536549G>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Ser639Asn	rs968390172	missense variant	-	NC_000017.11:g.65536545C>T	TOPMed
AXIN2	Q9Y2T1	p.Thr640Ile	rs1332790715	missense variant	-	NC_000017.11:g.65536542G>A	gnomAD
AXIN2	Q9Y2T1	p.Thr640Pro	rs1060502157	missense variant	-	NC_000017.11:g.65536543T>G	gnomAD
AXIN2	Q9Y2T1	p.Ala643Pro	rs748005374	missense variant	-	NC_000017.11:g.65536534C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala643Ser	rs748005374	missense variant	-	NC_000017.11:g.65536534C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr644Ser	rs1025003994	missense variant	-	NC_000017.11:g.65536530T>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr644Cys	rs1025003994	missense variant	-	NC_000017.11:g.65536530T>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro645Ser	rs1405864888	missense variant	-	NC_000017.11:g.65536528G>A	gnomAD
AXIN2	Q9Y2T1	p.Pro645Leu	rs730881405	missense variant	-	NC_000017.11:g.65536527G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu647Gly	rs376550544	missense variant	-	NC_000017.11:g.65536521T>C	ESP,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser648Cys	rs779214199	missense variant	-	NC_000017.11:g.65536518G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala649Val	rs1307386989	missense variant	-	NC_000017.11:g.65536515G>A	TOPMed
AXIN2	Q9Y2T1	p.Arg650Cys	rs148419444	missense variant	-	NC_000017.11:g.65536513G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg650His	rs199719878	missense variant	-	NC_000017.11:g.65536512C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser651Leu	rs74006838	missense variant	-	NC_000017.11:g.65536509G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser651Trp	rs74006838	missense variant	-	NC_000017.11:g.65536509G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser652Pro	rs917901663	missense variant	-	NC_000017.11:g.65536507A>G	gnomAD
AXIN2	Q9Y2T1	p.Glu655Lys	rs767111161	missense variant	-	NC_000017.11:g.65536498C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg656Gln	rs1555577180	missense variant	-	NC_000017.11:g.65536494C>T	-
AXIN2	Q9Y2T1	p.Arg656Ter	rs121908568	stop gained	Oligodontia-colorectal cancer syndrome (odcrcs)	NC_000017.11:g.65536495G>A	-
AXIN2	Q9Y2T1	p.Ala657Thr	rs1254934681	missense variant	-	NC_000017.11:g.65536492C>T	TOPMed
AXIN2	Q9Y2T1	p.Ser658Arg	rs751216221	missense variant	-	NC_000017.11:g.65536487G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg659Trp	rs142670753	missense variant	-	NC_000017.11:g.65536486G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg659Gln	rs730881400	missense variant	-	NC_000017.11:g.65536485C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu662Pro	rs142476324	missense variant	-	NC_000017.11:g.65536476A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu662Met	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65536477G>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Leu662Val	rs979932202	missense variant	-	NC_000017.11:g.65536477G>C	TOPMed
AXIN2	Q9Y2T1	p.Trp663Ter	rs730882193	stop gained	Oligodontia-colorectal cancer syndrome (odcrcs)	NC_000017.11:g.65536472C>T	-
AXIN2	Q9Y2T1	p.Trp663Ser	rs761870581	missense variant	-	NC_000017.11:g.65536473C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Trp663Arg	rs770763142	missense variant	-	NC_000017.11:g.65536474A>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Trp663Gly	rs770763142	missense variant	-	NC_000017.11:g.65536474A>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Trp663Leu	rs761870581	missense variant	-	NC_000017.11:g.65536473C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly664Val	rs1398162976	missense variant	-	NC_000017.11:g.65536470C>A	gnomAD
AXIN2	Q9Y2T1	p.Gly665Asp	rs772202125	missense variant	-	NC_000017.11:g.65536467C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gly665AlaPheSerTerUnkUnk	rs267606674	frameshift	-	NC_000017.11:g.65536467C>-	NCI-TCGA,NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Asn666AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65536466_65536467insCC	NCI-TCGA
AXIN2	Q9Y2T1	p.Asn666Lys	rs1460508423	missense variant	-	NC_000017.11:g.65536463G>T	gnomAD
AXIN2	Q9Y2T1	p.Asn666GlnPheSerTerUnkUnk	rs747355609	frameshift	-	NC_000017.11:g.65536466_65536467insC	NCI-TCGA,NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Ser667Asn	rs878854724	missense variant	-	NC_000017.11:g.65536461C>T	gnomAD
AXIN2	Q9Y2T1	p.Gly668Arg	rs774732785	missense variant	-	NC_000017.11:g.65536459C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.His669Gln	rs756419208	missense variant	-	NC_000017.11:g.65536454G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His669Gln	rs756419208	missense variant	-	NC_000017.11:g.65536454G>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His669Tyr	rs749487037	missense variant	-	NC_000017.11:g.65536456G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro670Arg	rs748754551	missense variant	-	NC_000017.11:g.65536452G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro670Leu	rs748754551	missense variant	-	NC_000017.11:g.65536452G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg671AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65536450G>-	NCI-TCGA
AXIN2	Q9Y2T1	p.Arg671Pro	rs765845684	missense variant	-	NC_000017.11:g.65536449C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg671Cys	rs754506970	missense variant	-	NC_000017.11:g.65536450G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg671His	rs765845684	missense variant	-	NC_000017.11:g.65536449C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr672Ala	rs1421895371	missense variant	-	NC_000017.11:g.65536447T>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr672Ile	rs1060502141	missense variant	-	NC_000017.11:g.65536446G>A	gnomAD
AXIN2	Q9Y2T1	p.Thr673Asn	rs576688801	missense variant	-	NC_000017.11:g.65536443G>T	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr673Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65536444T>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Thr673Ile	rs576688801	missense variant	-	NC_000017.11:g.65536443G>A	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro674Leu	rs1341498392	missense variant	-	NC_000017.11:g.65536440G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg675Gly	rs765149006	missense variant	-	NC_000017.11:g.65536438G>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg675Leu	rs730881401	missense variant	-	NC_000017.11:g.65536437C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg675ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65536437_65536438insG	NCI-TCGA
AXIN2	Q9Y2T1	p.Arg675Cys	rs765149006	missense variant	-	NC_000017.11:g.65536438G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg675Ser	rs765149006	missense variant	-	NC_000017.11:g.65536438G>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg675His	rs730881401	missense variant	-	NC_000017.11:g.65536437C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala676Thr	rs1424100499	missense variant	-	NC_000017.11:g.65536435C>T	gnomAD
AXIN2	Q9Y2T1	p.His677Gln	rs1555577104	missense variant	-	NC_000017.11:g.65536430G>T	-
AXIN2	Q9Y2T1	p.His677Arg	rs1555577107	missense variant	-	NC_000017.11:g.65536431T>C	-
AXIN2	Q9Y2T1	p.Leu678Gln	rs368798367	missense variant	-	NC_000017.11:g.65536428A>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu678Pro	rs368798367	missense variant	-	NC_000017.11:g.65536428A>G	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Phe679Leu	rs1165276318	missense variant	-	NC_000017.11:g.65536424G>C	gnomAD
AXIN2	Q9Y2T1	p.Thr680Ala	rs1255307307	missense variant	-	NC_000017.11:g.65536423T>C	TOPMed
AXIN2	Q9Y2T1	p.Gln681His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65536418C>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Gln681Glu	rs911977110	missense variant	-	NC_000017.11:g.65536420G>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp682Tyr	rs1555577097	missense variant	-	NC_000017.11:g.65536417C>A	-
AXIN2	Q9Y2T1	p.Pro683Leu	rs1555577092	missense variant	-	NC_000017.11:g.65536413G>A	-
AXIN2	Q9Y2T1	p.Ala684Val	rs138287857	missense variant	-	NC_000017.11:g.65536410G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala684Thr	rs1393284650	missense variant	-	NC_000017.11:g.65536411C>T	TOPMed
AXIN2	Q9Y2T1	p.Met685Ile	rs1047911557	missense variant	-	NC_000017.11:g.65536406C>T	-
AXIN2	Q9Y2T1	p.Met685Val	rs111650787	missense variant	-	NC_000017.11:g.65536408T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro687Leu	rs771109399	missense variant	-	NC_000017.11:g.65536401G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu688ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65536398_65536399insG	NCI-TCGA
AXIN2	Q9Y2T1	p.Leu688Ter	COSM193302	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65536399G>-	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Thr689Ser	rs367725839	missense variant	-	NC_000017.11:g.65536395G>C	ESP,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr689Ala	rs1229715038	missense variant	-	NC_000017.11:g.65536396T>C	gnomAD
AXIN2	Q9Y2T1	p.Pro690Ser	rs770199204	missense variant	-	NC_000017.11:g.65536393G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro691Ser	rs1352792335	missense variant	-	NC_000017.11:g.65536390G>A	gnomAD
AXIN2	Q9Y2T1	p.Asn692Ser	rs1555577070	missense variant	-	NC_000017.11:g.65536386T>C	-
AXIN2	Q9Y2T1	p.Thr693Met	rs755519590	missense variant	-	NC_000017.11:g.65536383G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Leu694Met	rs1325648219	missense variant	-	NC_000017.11:g.65536381G>T	gnomAD
AXIN2	Q9Y2T1	p.Ala695Ser	rs140510381	missense variant	-	NC_000017.11:g.65536378C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala695Val	COSM983025	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65536377G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Gln696Arg	rs778376993	missense variant	-	NC_000017.11:g.65536374T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gln696Ter	COSM1303211	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.65536375G>A	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Glu698Val	rs1214718312	missense variant	-	NC_000017.11:g.65536368T>A	TOPMed
AXIN2	Q9Y2T1	p.Ala700Asp	rs1414074583	missense variant	-	NC_000017.11:g.65536362G>T	gnomAD
AXIN2	Q9Y2T1	p.Cys701Phe	rs1060502130	missense variant	-	NC_000017.11:g.65536359C>A	gnomAD
AXIN2	Q9Y2T1	p.Cys701Tyr	rs1060502130	missense variant	-	NC_000017.11:g.65536359C>T	gnomAD
AXIN2	Q9Y2T1	p.Cys701Ser	rs1060502130	missense variant	-	NC_000017.11:g.65536359C>G	gnomAD
AXIN2	Q9Y2T1	p.Arg702Ser	rs1244431726	missense variant	-	NC_000017.11:g.65536357G>T	gnomAD
AXIN2	Q9Y2T1	p.Arg702Cys	rs1244431726	missense variant	-	NC_000017.11:g.65536357G>A	gnomAD
AXIN2	Q9Y2T1	p.Arg702His	rs757100957	missense variant	-	NC_000017.11:g.65536356C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg702Leu	rs757100957	missense variant	-	NC_000017.11:g.65536356C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg703Lys	rs565565172	missense variant	-	NC_000017.11:g.65536353C>T	1000Genomes
AXIN2	Q9Y2T1	p.Glu706Lys	rs121908567	missense variant	-	NC_000017.11:g.65536345C>T	gnomAD
AXIN2	Q9Y2T1	p.Glu706Ter	rs121908567	stop gained	-	NC_000017.11:g.65536345C>A	gnomAD
AXIN2	Q9Y2T1	p.Ser708Leu	rs587780123	missense variant	-	NC_000017.11:g.65536338G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gln713His	rs752664902	missense variant	-	NC_000017.11:g.65536322C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg714Gln	rs762872515	missense variant	-	NC_000017.11:g.65536320C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg714Trp	rs148765149	missense variant	-	NC_000017.11:g.65536321G>A	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val717Ala	rs767503380	missense variant	-	NC_000017.11:g.65535713A>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala718Ser	rs1211491592	missense variant	-	NC_000017.11:g.65535711C>A	gnomAD
AXIN2	Q9Y2T1	p.Gln720Arg	rs1060502147	missense variant	-	NC_000017.11:g.65535704T>C	-
AXIN2	Q9Y2T1	p.Arg724Gly	rs1230715098	missense variant	-	NC_000017.11:g.65535693T>C	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asn725Ile	rs533243256	missense variant	-	NC_000017.11:g.65535689T>A	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asn725Ser	rs533243256	missense variant	-	NC_000017.11:g.65535689T>C	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ser727Pro	rs1064795595	missense variant	-	NC_000017.11:g.65535684A>G	-
AXIN2	Q9Y2T1	p.Ser727Leu	rs200460573	missense variant	-	NC_000017.11:g.65535683G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala728Gly	rs762001576	missense variant	-	NC_000017.11:g.65535680G>C	ExAC
AXIN2	Q9Y2T1	p.Ala728Thr	rs141260153	missense variant	-	NC_000017.11:g.65535681C>T	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr729Ala	rs769016231	missense variant	-	NC_000017.11:g.65535678T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Val730Leu	rs776003231	missense variant	-	NC_000017.11:g.65535675C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Gln731His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65535670C>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Thr732Met	rs373911689	missense variant	-	NC_000017.11:g.65535668G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala734Thr	rs1390389867	missense variant	-	NC_000017.11:g.65535663C>T	gnomAD
AXIN2	Q9Y2T1	p.Thr735Ala	rs1163700628	missense variant	-	NC_000017.11:g.65535660T>C	gnomAD
AXIN2	Q9Y2T1	p.Thr735Ile	rs746350974	missense variant	-	NC_000017.11:g.65535659G>A	ExAC
AXIN2	Q9Y2T1	p.Pro736Leu	rs778332146	missense variant	-	NC_000017.11:g.65535656G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro736Ser	rs951676348	missense variant	-	NC_000017.11:g.65535657G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro736Thr	rs951676348	missense variant	-	NC_000017.11:g.65535657G>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser738Phe	rs139209450	missense variant	-	NC_000017.11:g.65535650G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asn739Ser	rs547630327	missense variant	-	NC_000017.11:g.65535647T>C	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asn739Ile	rs547630327	missense variant	-	NC_000017.11:g.65535647T>A	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro740Leu	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65535644G>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Pro740Ser	rs370503213	missense variant	-	NC_000017.11:g.65535645G>A	ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro740Arg	rs747903181	missense variant	-	NC_000017.11:g.65535644G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser741Asn	rs781309325	missense variant	-	NC_000017.11:g.65535641C>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser741Gly	rs1291289398	missense variant	-	NC_000017.11:g.65535642T>C	gnomAD
AXIN2	Q9Y2T1	p.Ala743Val	rs969592225	missense variant	-	NC_000017.11:g.65535635G>A	-
AXIN2	Q9Y2T1	p.Pro744Leu	rs1228679390	missense variant	-	NC_000017.11:g.65535632G>A	gnomAD
AXIN2	Q9Y2T1	p.Pro744Ser	rs1314547209	missense variant	-	NC_000017.11:g.65535633G>A	gnomAD
AXIN2	Q9Y2T1	p.Asp746Asn	rs183475174	missense variant	-	NC_000017.11:g.65535627C>T	1000Genomes
AXIN2	Q9Y2T1	p.His747Tyr	rs143571197	missense variant	-	NC_000017.11:g.65534078G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.His747Arg	rs62640031	missense variant	-	NC_000017.11:g.65534077T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Lys748Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65534074T>A	NCI-TCGA
AXIN2	Q9Y2T1	p.Glu749ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000017.11:g.65534072_65534073insT	NCI-TCGA
AXIN2	Q9Y2T1	p.Pro750Leu	rs772888193	missense variant	-	NC_000017.11:g.65534068G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Pro750Ser	rs1236306797	missense variant	-	NC_000017.11:g.65534069G>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Lys751Asn	rs776281840	missense variant	-	NC_000017.11:g.65534064C>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys751Asn	rs776281840	missense variant	-	NC_000017.11:g.65534064C>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Leu753Arg	rs768352721	missense variant	-	NC_000017.11:g.65534059A>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala754Val	rs746773698	missense variant	-	NC_000017.11:g.65534056G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Gly755Ala	rs981540341	missense variant	-	NC_000017.11:g.65534053C>G	TOPMed
AXIN2	Q9Y2T1	p.Gly755Val	rs981540341	missense variant	-	NC_000017.11:g.65534053C>A	TOPMed
AXIN2	Q9Y2T1	p.Val756Ile	rs1060502140	missense variant	-	NC_000017.11:g.65534051C>T	TOPMed
AXIN2	Q9Y2T1	p.His757Gln	rs772041910	missense variant	-	NC_000017.11:g.65534046G>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala758Thr	rs145007501	missense variant	-	NC_000017.11:g.65534045C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala758Val	rs777885192	missense variant	-	NC_000017.11:g.65534044G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Leu759Arg	rs1060502135	missense variant	-	NC_000017.11:g.65534041A>C	gnomAD
AXIN2	Q9Y2T1	p.Leu759His	rs1060502135	missense variant	-	NC_000017.11:g.65534041A>T	gnomAD
AXIN2	Q9Y2T1	p.Gln760Ter	rs752865337	stop gained	-	NC_000017.11:g.65534039G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Ala761Asp	rs79732150	missense variant	-	NC_000017.11:g.65534035G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala761Thr	rs1024751792	missense variant	-	NC_000017.11:g.65534036C>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser762Ile	rs117688560	missense variant	-	NC_000017.11:g.65534032C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser762Asn	rs117688560	missense variant	-	NC_000017.11:g.65534032C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ser762Gly	rs755320218	missense variant	-	NC_000017.11:g.65534033T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Thr767Asn	rs763613779	missense variant	-	NC_000017.11:g.65534017G>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Tyr768His	rs750962952	missense variant	-	NC_000017.11:g.65534015A>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Tyr768Phe	rs764845153	missense variant	-	NC_000017.11:g.65534014T>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Phe770Leu	rs1555576387	missense variant	-	NC_000017.11:g.65534009A>G	-
AXIN2	Q9Y2T1	p.Ile775Phe	rs150734114	missense variant	-	NC_000017.11:g.65533994T>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ile775Thr	rs1555576382	missense variant	-	NC_000017.11:g.65533993A>G	-
AXIN2	Q9Y2T1	p.Pro776Ser	rs1064793454	missense variant	-	NC_000017.11:g.65533991G>A	-
AXIN2	Q9Y2T1	p.Arg778Trp	rs1398258340	missense variant	-	NC_000017.11:g.65533985G>A	gnomAD
AXIN2	Q9Y2T1	p.Arg778Gln	rs1555576374	missense variant	-	NC_000017.11:g.65533984C>T	-
AXIN2	Q9Y2T1	p.Met780Ile	rs1555576371	missense variant	-	NC_000017.11:g.65533977C>T	-
AXIN2	Q9Y2T1	p.Ala783Ser	rs760217787	missense variant	-	NC_000017.11:g.65533970C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Ala783Gly	rs1484466355	missense variant	-	NC_000017.11:g.65533969G>C	TOPMed
AXIN2	Q9Y2T1	p.Thr787Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65533957G>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Gly789Ala	rs1060502138	missense variant	-	NC_000017.11:g.65533951C>G	gnomAD
AXIN2	Q9Y2T1	p.His790Tyr	rs1475599007	missense variant	-	NC_000017.11:g.65533949G>A	gnomAD
AXIN2	Q9Y2T1	p.Gln794Lys	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65533937G>T	NCI-TCGA
AXIN2	Q9Y2T1	p.Lys797Thr	rs1555576353	missense variant	-	NC_000017.11:g.65533927T>G	-
AXIN2	Q9Y2T1	p.Lys798Gln	rs1555576349	missense variant	-	NC_000017.11:g.65533925T>G	-
AXIN2	Q9Y2T1	p.Lys798Arg	rs771837388	missense variant	-	NC_000017.11:g.65533924T>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg802Met	rs778752803	missense variant	-	NC_000017.11:g.65533912C>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg802Thr	rs778752803	missense variant	-	NC_000017.11:g.65533912C>G	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr803Cys	rs1280152084	missense variant	-	NC_000017.11:g.65530100T>C	gnomAD
AXIN2	Q9Y2T1	p.Lys806Arg	rs768614505	missense variant	-	NC_000017.11:g.65530091T>C	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Lys807Thr	rs780367025	missense variant	-	NC_000017.11:g.65530088T>G	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Lys807Ile	rs780367025	missense variant	-	NC_000017.11:g.65530088T>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Asp810Asn	rs140344858	missense variant	-	NC_000017.11:g.65530080C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp810Glu	rs757835133	missense variant	-	NC_000017.11:g.65530078A>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Glu811Gly	NCI-TCGA novel	missense variant	-	NC_000017.11:g.65530076T>C	NCI-TCGA
AXIN2	Q9Y2T1	p.Glu811Gln	rs1555575491	missense variant	-	NC_000017.11:g.65530077C>G	-
AXIN2	Q9Y2T1	p.Ala813Thr	rs372420075	missense variant	-	NC_000017.11:g.65530071C>T	ESP,TOPMed
AXIN2	Q9Y2T1	p.Cys814Phe	rs1060502127	missense variant	-	NC_000017.11:g.65530067C>A	-
AXIN2	Q9Y2T1	p.Gly815Arg	rs1555575480	missense variant	-	NC_000017.11:g.65530065C>T	-
AXIN2	Q9Y2T1	p.Ala816Val	rs755508971	missense variant	-	NC_000017.11:g.65530061G>A	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Glu819Gln	COSM4756455	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.65530053C>G	NCI-TCGA Cosmic
AXIN2	Q9Y2T1	p.Asp824Asn	rs1244596696	missense variant	-	NC_000017.11:g.65530038C>T	gnomAD
AXIN2	Q9Y2T1	p.Asp824Glu	rs767106022	missense variant	-	NC_000017.11:g.65530036A>T	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Thr826Met	rs759355821	missense variant	-	NC_000017.11:g.65530031G>A	ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Val827Met	rs144788470	missense variant	-	NC_000017.11:g.65530029C>T	ESP,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Pro829Leu	rs1285654850	missense variant	-	NC_000017.11:g.65530022G>A	gnomAD
AXIN2	Q9Y2T1	p.Met830Lys	rs878854727	missense variant	-	NC_000017.11:g.65530019A>T	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Met830Ile	rs747010025	missense variant	-	NC_000017.11:g.65530018C>T	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Met830Thr	rs878854727	missense variant	-	NC_000017.11:g.65530019A>G	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Tyr831Asp	rs775884055	missense variant	-	NC_000017.11:g.65530017A>C	ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg834Gln	rs199838262	missense variant	-	NC_000017.11:g.65530007C>T	1000Genomes,ExAC,gnomAD
AXIN2	Q9Y2T1	p.Arg834Trp	rs878854728	missense variant	-	NC_000017.11:g.65530008G>A	gnomAD
AXIN2	Q9Y2T1	p.Arg841Gln	rs562176077	missense variant	-	NC_000017.11:g.65529986C>T	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg841Pro	rs562176077	missense variant	-	NC_000017.11:g.65529986C>G	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Arg841Trp	rs527766429	missense variant	-	NC_000017.11:g.65529987G>A	1000Genomes,ExAC,TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp843Val	rs1413374885	missense variant	-	NC_000017.11:g.65529980T>A	TOPMed,gnomAD
AXIN2	Q9Y2T1	p.Asp843Asn	rs1249731868	missense variant	-	NC_000017.11:g.65529981C>T	TOPMed
AXIN2	Q9Y2T1	p.Asp843His	rs1249731868	missense variant	-	NC_000017.11:g.65529981C>G	TOPMed
RAX	Q9Y2V3	p.Pro4Gln	rs1446492053	missense variant	-	NC_000018.10:g.59273196G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro4Arg	rs1446492053	missense variant	-	NC_000018.10:g.59273196G>C	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly5Ser	rs1167489071	missense variant	-	NC_000018.10:g.59273194C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Cys6Arg	rs1251733886	missense variant	-	NC_000018.10:g.59273191A>G	TOPMed
RAX	Q9Y2V3	p.Cys6Ter	rs1406489586	stop gained	-	NC_000018.10:g.59273189G>T	gnomAD
RAX	Q9Y2V3	p.Ala7Glu	rs376585242	missense variant	-	NC_000018.10:g.59273187G>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Ala7Thr	rs1157387573	missense variant	-	NC_000018.10:g.59273188C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Met10Val	rs1027596448	missense variant	-	NC_000018.10:g.59273179T>C	TOPMed
RAX	Q9Y2V3	p.Met10Ile	rs1161761082	missense variant	-	NC_000018.10:g.59273177C>T	gnomAD
RAX	Q9Y2V3	p.Ala11Asp	rs1441701885	missense variant	-	NC_000018.10:g.59273175G>T	gnomAD
RAX	Q9Y2V3	p.Asp12Glu	rs995064817	missense variant	-	NC_000018.10:g.59273171G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Asp12Asn	rs1178316569	missense variant	-	NC_000018.10:g.59273173C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly13Arg	rs936886267	missense variant	-	NC_000018.10:g.59273170C>G	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly13Trp	rs936886267	missense variant	-	NC_000018.10:g.59273170C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly13Arg	rs936886267	missense variant	-	NC_000018.10:g.59273170C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala18Thr	rs1230996670	missense variant	-	NC_000018.10:g.59273155C>T	gnomAD
RAX	Q9Y2V3	p.Gly19Asp	rs747381883	missense variant	-	NC_000018.10:g.59273151C>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Gly19Ser	rs897692459	missense variant	-	NC_000018.10:g.59273152C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly19Cys	rs897692459	missense variant	-	NC_000018.10:g.59273152C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly19Arg	rs897692459	missense variant	-	NC_000018.10:g.59273152C>G	TOPMed,gnomAD
RAX	Q9Y2V3	p.Arg23Cys	rs1436913110	missense variant	-	NC_000018.10:g.59273140G>A	TOPMed
RAX	Q9Y2V3	p.Ser24Arg	rs1243133586	missense variant	-	NC_000018.10:g.59273135G>T	gnomAD
RAX	Q9Y2V3	p.Ser24Asn	rs1275732549	missense variant	-	NC_000018.10:g.59273136C>T	TOPMed
RAX	Q9Y2V3	p.Pro25Ser	rs1355301708	missense variant	-	NC_000018.10:g.59273134G>A	gnomAD
RAX	Q9Y2V3	p.Pro25Leu	rs1309499862	missense variant	-	NC_000018.10:g.59273133G>A	gnomAD
RAX	Q9Y2V3	p.Gly27Arg	rs778308289	missense variant	-	NC_000018.10:g.59273128C>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Gly27Ala	rs562809912	missense variant	-	NC_000018.10:g.59273127C>G	1000Genomes,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser28Asn	rs1295673512	missense variant	-	NC_000018.10:g.59273124C>T	gnomAD
RAX	Q9Y2V3	p.Leu32Ile	rs1226292501	missense variant	-	NC_000018.10:g.59273113G>T	TOPMed
RAX	Q9Y2V3	p.Glu36Ter	rs1421573171	stop gained	-	NC_000018.10:g.59273101C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Glu36Lys	rs1421573171	missense variant	-	NC_000018.10:g.59273101C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly40Arg	RCV000387698	missense variant	-	NC_000018.10:g.59273089C>G	ClinVar
RAX	Q9Y2V3	p.Gly40Trp	rs886054028	missense variant	-	NC_000018.10:g.59273089C>A	TOPMed
RAX	Q9Y2V3	p.Gly40Arg	rs886054028	missense variant	-	NC_000018.10:g.59273089C>G	TOPMed
RAX	Q9Y2V3	p.Phe41Tyr	rs1055818612	missense variant	-	NC_000018.10:g.59273085A>T	TOPMed
RAX	Q9Y2V3	p.Thr42Ile	rs937587828	missense variant	-	NC_000018.10:g.59273082G>A	TOPMed
RAX	Q9Y2V3	p.Asp44Glu	RCV000333220	missense variant	-	NC_000018.10:g.59273075G>T	ClinVar
RAX	Q9Y2V3	p.Asp44Glu	rs2271733	missense variant	-	NC_000018.10:g.59273075G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Asp44Glu	rs2271733	missense variant	-	NC_000018.10:g.59273075G>T	UniProt,dbSNP
RAX	Q9Y2V3	p.Asp44Glu	VAR_020150	missense variant	-	NC_000018.10:g.59273075G>T	UniProt
RAX	Q9Y2V3	p.Asp45Gly	rs565172849	missense variant	-	NC_000018.10:g.59273073T>C	1000Genomes,TOPMed,gnomAD
RAX	Q9Y2V3	p.Asp45Glu	rs1192712648	missense variant	-	NC_000018.10:g.59273072G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Asp45Ala	rs565172849	missense variant	-	NC_000018.10:g.59273073T>G	1000Genomes,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly46Arg	rs1488724199	missense variant	-	NC_000018.10:g.59273071C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ile47Asn	rs61735443	missense variant	-	NC_000018.10:g.59273067A>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ile47Phe	rs974769749	missense variant	-	NC_000018.10:g.59273068T>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Thr50Pro	rs150622912	missense variant	-	NC_000018.10:g.59273059T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Phe51Leu	rs1214569321	missense variant	-	NC_000018.10:g.59273054G>C	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala53Glu	rs1314777106	missense variant	-	NC_000018.10:g.59273049G>T	gnomAD
RAX	Q9Y2V3	p.Glu54Gly	rs1303770564	missense variant	-	NC_000018.10:g.59273046T>C	gnomAD
RAX	Q9Y2V3	p.Arg55Trp	rs985273475	missense variant	-	NC_000018.10:g.59273044G>A	gnomAD
RAX	Q9Y2V3	p.Gly56Val	rs1297101098	missense variant	-	NC_000018.10:g.59273040C>A	TOPMed
RAX	Q9Y2V3	p.Gly56Ser	RCV000259362	missense variant	-	NC_000018.10:g.59273041C>T	ClinVar
RAX	Q9Y2V3	p.Gly56Ser	rs886054027	missense variant	-	NC_000018.10:g.59273041C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala57Thr	rs1402434953	missense variant	-	NC_000018.10:g.59273038C>T	gnomAD
RAX	Q9Y2V3	p.Ala57Val	rs368193212	missense variant	-	NC_000018.10:g.59273037G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Arg58Pro	RCV000373550	missense variant	-	NC_000018.10:g.59273034C>G	ClinVar
RAX	Q9Y2V3	p.Arg58Pro	rs886054026	missense variant	-	NC_000018.10:g.59273034C>G	TOPMed
RAX	Q9Y2V3	p.Gly59Asp	rs1297677016	missense variant	-	NC_000018.10:g.59273031C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala60Thr	rs1226207164	missense variant	-	NC_000018.10:g.59273029C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Glu62Lys	rs780317315	missense variant	-	NC_000018.10:g.59273023C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Arg63Leu	rs1022815923	missense variant	-	NC_000018.10:g.59273019C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Arg63Pro	rs1022815923	missense variant	-	NC_000018.10:g.59273019C>G	TOPMed,gnomAD
RAX	Q9Y2V3	p.Asp64Asn	rs1445611036	missense variant	-	NC_000018.10:g.59273017C>T	TOPMed
RAX	Q9Y2V3	p.Arg65Met	rs757055915	missense variant	-	NC_000018.10:g.59273013C>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg66Thr	rs536765190	missense variant	-	NC_000018.10:g.59273010C>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Arg66Thr	RCV000597146	missense variant	-	NC_000018.10:g.59273010C>G	ClinVar
RAX	Q9Y2V3	p.Gly68Arg	rs763981650	missense variant	-	NC_000018.10:g.59273005C>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly68Asp	rs758221079	missense variant	-	NC_000018.10:g.59273004C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly68Ser	rs763981650	missense variant	-	NC_000018.10:g.59273005C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala69Glu	rs1484643719	missense variant	-	NC_000018.10:g.59273001G>T	gnomAD
RAX	Q9Y2V3	p.Arg70Trp	rs1164813146	missense variant	-	NC_000018.10:g.59272999G>A	TOPMed
RAX	Q9Y2V3	p.Ala72Ser	rs1459904633	missense variant	-	NC_000018.10:g.59272993C>A	gnomAD
RAX	Q9Y2V3	p.Ala72Gly	rs752697208	missense variant	-	NC_000018.10:g.59272992G>C	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Cys73Phe	rs1389571436	missense variant	-	NC_000018.10:g.59272989C>A	TOPMed
RAX	Q9Y2V3	p.Pro74Ser	rs1042965899	missense variant	-	NC_000018.10:g.59272987G>A	gnomAD
RAX	Q9Y2V3	p.Lys75Glu	rs1437384326	missense variant	-	NC_000018.10:g.59272984T>C	TOPMed
RAX	Q9Y2V3	p.Lys75Arg	rs933462138	missense variant	-	NC_000018.10:g.59272983T>C	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala76Val	rs1246224888	missense variant	-	NC_000018.10:g.59272980G>A	TOPMed
RAX	Q9Y2V3	p.Ala76Gly	rs1246224888	missense variant	-	NC_000018.10:g.59272980G>C	TOPMed
RAX	Q9Y2V3	p.Pro77Ser	rs764834579	missense variant	-	NC_000018.10:g.59272978G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Glu78Lys	rs776400648	missense variant	-	NC_000018.10:g.59272975C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Glu82Lys	rs1303613515	missense variant	-	NC_000018.10:g.59272963C>T	gnomAD
RAX	Q9Y2V3	p.Glu82Ala	rs765987348	missense variant	-	NC_000018.10:g.59272962T>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro85Leu	rs773396378	missense variant	-	NC_000018.10:g.59272953G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro85Gln	rs773396378	missense variant	-	NC_000018.10:g.59272953G>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro86Gln	rs1424241563	missense variant	-	NC_000018.10:g.59272950G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro86Thr	rs772496283	missense variant	-	NC_000018.10:g.59272951G>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Ala88Val	rs1257700769	missense variant	-	NC_000018.10:g.59272944G>A	gnomAD
RAX	Q9Y2V3	p.Ala88Ter	RCV000598975	frameshift	-	NC_000018.10:g.59272944_59272945delinsT	ClinVar
RAX	Q9Y2V3	p.Pro89Ser	rs774908864	missense variant	-	NC_000018.10:g.59272942G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Ala90Glu	rs1241615611	missense variant	-	NC_000018.10:g.59272938G>T	gnomAD
RAX	Q9Y2V3	p.Pro91Thr	rs1458981555	missense variant	-	NC_000018.10:g.59272936G>T	TOPMed
RAX	Q9Y2V3	p.Pro91Leu	rs1319110009	missense variant	-	NC_000018.10:g.59272935G>A	gnomAD
RAX	Q9Y2V3	p.Pro93Leu	rs749422125	missense variant	-	NC_000018.10:g.59272929G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Glu94Lys	rs1273056761	missense variant	-	NC_000018.10:g.59272927C>T	gnomAD
RAX	Q9Y2V3	p.Glu96Gly	rs1268800383	missense variant	-	NC_000018.10:g.59272920T>C	gnomAD
RAX	Q9Y2V3	p.Glu96Gln	rs746126022	missense variant	-	NC_000018.10:g.59272921C>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala97Val	rs767252104	missense variant	-	NC_000018.10:g.59272614G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro98Thr	rs892028528	missense variant	-	NC_000018.10:g.59272612G>T	TOPMed
RAX	Q9Y2V3	p.Arg99Pro	rs1350240303	missense variant	-	NC_000018.10:g.59272608C>G	gnomAD
RAX	Q9Y2V3	p.Arg99Ter	NCI-TCGA novel	stop gained	-	NC_000018.10:g.59272609G>A	NCI-TCGA
RAX	Q9Y2V3	p.Pro100Ser	rs764464403	missense variant	-	NC_000018.10:g.59272606G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Pro103Leu	rs763395564	missense variant	-	NC_000018.10:g.59272596G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Pro103Ser	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59272597G>A	NCI-TCGA
RAX	Q9Y2V3	p.Lys104Arg	rs776070979	missense variant	-	NC_000018.10:g.59272593T>C	ExAC,gnomAD
RAX	Q9Y2V3	p.Glu105Lys	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59272591C>T	NCI-TCGA
RAX	Q9Y2V3	p.Pro106Ser	rs957532373	missense variant	-	NC_000018.10:g.59272588G>A	gnomAD
RAX	Q9Y2V3	p.Gly107Arg	rs776685888	missense variant	-	NC_000018.10:g.59272585C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly107Glu	COSM3891198	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272584C>T	NCI-TCGA Cosmic
RAX	Q9Y2V3	p.Glu108Gly	rs771237825	missense variant	-	NC_000018.10:g.59272581T>C	ExAC,gnomAD
RAX	Q9Y2V3	p.Glu108Lys	COSM709221	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272582C>T	NCI-TCGA Cosmic
RAX	Q9Y2V3	p.Ala109Ser	rs747253593	missense variant	-	NC_000018.10:g.59272579C>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg110Trp	rs202032096	missense variant	-	NC_000018.10:g.59272576G>A	ESP,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Arg110Leu	rs1378610181	missense variant	-	NC_000018.10:g.59272575C>A	gnomAD
RAX	Q9Y2V3	p.Arg110Gly	rs202032096	missense variant	-	NC_000018.10:g.59272576G>C	ESP,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Arg110Gln	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59272575C>T	NCI-TCGA
RAX	Q9Y2V3	p.Gly114Val	rs1260488407	missense variant	-	NC_000018.10:g.59272563C>A	TOPMed
RAX	Q9Y2V3	p.Val117Phe	rs1446560067	missense variant	-	NC_000018.10:g.59272555C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro119Ala	rs1160800612	missense variant	-	NC_000018.10:g.59272549G>C	TOPMed
RAX	Q9Y2V3	p.Ala120Gly	rs1202442561	missense variant	-	NC_000018.10:g.59272545G>C	TOPMed,gnomAD
RAX	Q9Y2V3	p.Thr121Ala	rs756854622	missense variant	-	NC_000018.10:g.59272543T>C	ExAC,gnomAD
RAX	Q9Y2V3	p.Gly122Asp	rs201103642	missense variant	-	NC_000018.10:g.59272539C>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Glu123Val	rs1343571278	missense variant	-	NC_000018.10:g.59272536T>A	gnomAD
RAX	Q9Y2V3	p.Glu123Lys	rs138878118	missense variant	-	NC_000018.10:g.59272537C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala124Pro	rs1303424208	missense variant	-	NC_000018.10:g.59272534C>G	TOPMed
RAX	Q9Y2V3	p.Glu128Lys	rs1325393602	missense variant	-	NC_000018.10:g.59272522C>T	gnomAD
RAX	Q9Y2V3	p.Glu129Asp	COSM6054446	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272517C>G	NCI-TCGA Cosmic
RAX	Q9Y2V3	p.Gln131Arg	rs765811725	missense variant	-	NC_000018.10:g.59272512T>C	ExAC,gnomAD
RAX	Q9Y2V3	p.Gln131His	rs376129745	missense variant	-	NC_000018.10:g.59272511C>G	ExAC,TOPMed
RAX	Q9Y2V3	p.Pro132Thr	rs1376153990	missense variant	-	NC_000018.10:g.59272510G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Lys133Arg	rs771144259	missense variant	-	NC_000018.10:g.59272506T>C	ExAC,gnomAD
RAX	Q9Y2V3	p.Lys133Met	rs771144259	missense variant	-	NC_000018.10:g.59272506T>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Lys133Asn	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59272505C>G	NCI-TCGA
RAX	Q9Y2V3	p.Lys134Glu	rs1468634900	missense variant	-	NC_000018.10:g.59272504T>C	gnomAD
RAX	Q9Y2V3	p.Arg137Gln	rs768555667	missense variant	-	NC_000018.10:g.59272494C>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg137Pro	rs768555667	missense variant	-	NC_000018.10:g.59272494C>G	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg137Trp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59272495G>A	NCI-TCGA
RAX	Q9Y2V3	p.Arg138Trp	rs749160270	missense variant	-	NC_000018.10:g.59272492G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Thr141Ala	COSM4072793	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272483T>C	NCI-TCGA Cosmic
RAX	Q9Y2V3	p.Thr144AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000018.10:g.59272473_59272474insT	NCI-TCGA
RAX	Q9Y2V3	p.Gln147Ter	rs104894663	stop gained	Microphthalmia, isolated 3 (mcop3)	NC_000018.10:g.59272465G>A	TOPMed
RAX	Q9Y2V3	p.Gln147Ter	RCV000008074	nonsense	Microphthalmia, isolated 3 (MCOP3)	NC_000018.10:g.59272465G>A	ClinVar
RAX	Q9Y2V3	p.His149Pro	rs1202792332	missense variant	-	NC_000018.10:g.59272458T>G	TOPMed,gnomAD
RAX	Q9Y2V3	p.His149Arg	rs1202792332	missense variant	-	NC_000018.10:g.59272458T>C	TOPMed,gnomAD
RAX	Q9Y2V3	p.His149Tyr	rs769735298	missense variant	-	NC_000018.10:g.59272459G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Glu152Gln	rs1259884977	missense variant	-	NC_000018.10:g.59272450C>G	gnomAD
RAX	Q9Y2V3	p.Arg153Gly	rs780624068	missense variant	-	NC_000018.10:g.59272447G>C	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg153Cys	rs780624068	missense variant	-	NC_000018.10:g.59272447G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg153His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59272446C>T	NCI-TCGA
RAX	Q9Y2V3	p.Ala154Thr	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59272444C>T	NCI-TCGA
RAX	Q9Y2V3	p.Glu156Gln	rs1441487299	missense variant	-	NC_000018.10:g.59272438C>G	gnomAD
RAX	Q9Y2V3	p.Glu156Asp	rs1257114283	missense variant	-	NC_000018.10:g.59272436C>G	TOPMed
RAX	Q9Y2V3	p.Glu156Lys	rs1441487299	missense variant	-	NC_000018.10:g.59272438C>T	gnomAD
RAX	Q9Y2V3	p.Lys157Thr	rs377063417	missense variant	-	NC_000018.10:g.59272434T>G	ESP,ExAC,gnomAD
RAX	Q9Y2V3	p.His159Gln	rs777449696	missense variant	-	NC_000018.10:g.59272427G>C	ExAC,gnomAD
RAX	Q9Y2V3	p.Tyr160Ter	rs1486914123	stop gained	-	NC_000018.10:g.59272424G>T	TOPMed
RAX	Q9Y2V3	p.Tyr160His	VAR_075630	Missense	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]	-	UniProt
RAX	Q9Y2V3	p.Pro161Ser	rs1180506830	missense variant	-	NC_000018.10:g.59272423G>A	TOPMed
RAX	Q9Y2V3	p.Pro161Gln	rs1383068323	missense variant	-	NC_000018.10:g.59272422G>T	gnomAD
RAX	Q9Y2V3	p.Pro161Arg	rs1383068323	missense variant	-	NC_000018.10:g.59272422G>C	gnomAD
RAX	Q9Y2V3	p.Asp162His	COSM1324539	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59272420C>G	NCI-TCGA Cosmic
RAX	Q9Y2V3	p.Val163Leu	rs753064502	missense variant	-	NC_000018.10:g.59272417C>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Ser165Ile	rs372582106	missense variant	-	NC_000018.10:g.59272410C>A	ESP,ExAC,gnomAD
RAX	Q9Y2V3	p.Ser165Asn	rs372582106	missense variant	-	NC_000018.10:g.59272410C>T	ESP,ExAC,gnomAD
RAX	Q9Y2V3	p.Arg166His	rs754301606	missense variant	-	NC_000018.10:g.59272407C>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg166Pro	rs754301606	missense variant	-	NC_000018.10:g.59272407C>G	ExAC,gnomAD
RAX	Q9Y2V3	p.Glu167Lys	rs1178632580	missense variant	-	NC_000018.10:g.59272405C>T	TOPMed
RAX	Q9Y2V3	p.Glu167Gly	rs915968183	missense variant	-	NC_000018.10:g.59272404T>C	-
RAX	Q9Y2V3	p.Glu168Ter	rs766559837	stop gained	-	NC_000018.10:g.59272402C>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Glu168Lys	rs766559837	missense variant	-	NC_000018.10:g.59272402C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala170Ser	rs1413414766	missense variant	-	NC_000018.10:g.59272396C>A	TOPMed
RAX	Q9Y2V3	p.Gly171Val	rs920226416	missense variant	-	NC_000018.10:g.59272392C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly171Arg	rs61735442	missense variant	-	NC_000018.10:g.59272393C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Leu175Ile	rs775310728	missense variant	-	NC_000018.10:g.59272381G>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Glu177Gly	rs745752090	missense variant	-	NC_000018.10:g.59272374T>C	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg179Gln	rs1437175580	missense variant	-	NC_000018.10:g.59272368C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Trp183Ser	rs1405564792	missense variant	-	NC_000018.10:g.59269497C>G	gnomAD
RAX	Q9Y2V3	p.Asn186Lys	rs1291862570	missense variant	-	NC_000018.10:g.59269487G>T	TOPMed
RAX	Q9Y2V3	p.Arg187Gln	VAR_075631	Missense	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]	-	UniProt
RAX	Q9Y2V3	p.Arg188Gln	VAR_075632	Missense	Microphthalmia, isolated, 3 (MCOP3) [MIM:611038]	-	UniProt
RAX	Q9Y2V3	p.Ala189Thr	rs1480730660	missense variant	-	NC_000018.10:g.59269480C>T	gnomAD
RAX	Q9Y2V3	p.Arg192Gln	rs121909127	missense variant	Microphthalmia, isolated 3 (mcop3)	NC_000018.10:g.59269470C>T	-
RAX	Q9Y2V3	p.Arg192Gln	rs121909127	missense variant	Microphthalmia, isolated, 3 (MCOP3)	NC_000018.10:g.59269470C>T	UniProt,dbSNP
RAX	Q9Y2V3	p.Arg192Gln	VAR_034905	missense variant	Microphthalmia, isolated, 3 (MCOP3)	NC_000018.10:g.59269470C>T	UniProt
RAX	Q9Y2V3	p.Arg192Gln	RCV000008075	missense variant	Microphthalmia, isolated 3 (MCOP3)	NC_000018.10:g.59269470C>T	ClinVar
RAX	Q9Y2V3	p.Arg193Gln	rs756644705	missense variant	-	NC_000018.10:g.59269467C>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Gln194His	rs781266064	missense variant	-	NC_000018.10:g.59269463C>G	ExAC,gnomAD
RAX	Q9Y2V3	p.Gln194Leu	rs750985060	missense variant	-	NC_000018.10:g.59269464T>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Val199Gly	rs1315462289	missense variant	-	NC_000018.10:g.59269449A>C	gnomAD
RAX	Q9Y2V3	p.Ser200Tyr	rs1265408727	missense variant	-	NC_000018.10:g.59269446G>T	gnomAD
RAX	Q9Y2V3	p.Ser201Thr	rs751795362	missense variant	-	NC_000018.10:g.59269444A>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Ser201Tyr	rs764273839	missense variant	-	NC_000018.10:g.59269443G>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Met202Leu	rs1024154654	missense variant	-	NC_000018.10:g.59269441T>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Met202Lys	rs1362802684	missense variant	-	NC_000018.10:g.59269440A>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Met202Leu	rs1024154654	missense variant	-	NC_000018.10:g.59269441T>G	TOPMed,gnomAD
RAX	Q9Y2V3	p.Met202Thr	rs1362802684	missense variant	-	NC_000018.10:g.59269440A>G	TOPMed,gnomAD
RAX	Q9Y2V3	p.Leu204Met	rs200647674	missense variant	-	NC_000018.10:g.59269435G>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gln205Lys	rs1343157423	missense variant	-	NC_000018.10:g.59269432G>T	gnomAD
RAX	Q9Y2V3	p.Asp206Glu	rs766173636	missense variant	-	NC_000018.10:g.59269427G>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser207Leu	rs760539266	missense variant	-	NC_000018.10:g.59269425G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Ser207Ala	rs1416528261	missense variant	-	NC_000018.10:g.59269426A>C	TOPMed
RAX	Q9Y2V3	p.Pro208Leu	rs1429742399	missense variant	-	NC_000018.10:g.59269422G>A	gnomAD
RAX	Q9Y2V3	p.Leu209Phe	rs1185520955	missense variant	-	NC_000018.10:g.59269420G>A	gnomAD
RAX	Q9Y2V3	p.Ser211Pro	rs1204703912	missense variant	-	NC_000018.10:g.59269414A>G	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser213Arg	COSM3526824	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59269408T>G	NCI-TCGA Cosmic
RAX	Q9Y2V3	p.Arg214Cys	rs1348676659	missense variant	-	NC_000018.10:g.59269405G>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Arg214Leu	rs774021432	missense variant	-	NC_000018.10:g.59269404C>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser215Phe	rs1230305763	missense variant	-	NC_000018.10:g.59269401G>A	gnomAD
RAX	Q9Y2V3	p.Ser215Cys	rs1230305763	missense variant	-	NC_000018.10:g.59269401G>C	gnomAD
RAX	Q9Y2V3	p.Pro216Thr	rs1308106678	missense variant	-	NC_000018.10:g.59269399G>T	gnomAD
RAX	Q9Y2V3	p.Ala219Glu	rs1294962832	missense variant	-	NC_000018.10:g.59269389G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser222Trp	rs768156635	missense variant	-	NC_000018.10:g.59269380G>C	ExAC,gnomAD
RAX	Q9Y2V3	p.Pro223Leu	rs1453069185	missense variant	-	NC_000018.10:g.59269377G>A	gnomAD
RAX	Q9Y2V3	p.Leu224Ile	rs780512181	missense variant	-	NC_000018.10:g.59269375G>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Gly225Trp	rs1463481938	missense variant	-	NC_000018.10:g.59269372C>A	gnomAD
RAX	Q9Y2V3	p.Gly225Arg	rs1463481938	missense variant	-	NC_000018.10:g.59269372C>G	gnomAD
RAX	Q9Y2V3	p.Gly227Asp	rs1373090225	missense variant	-	NC_000018.10:g.59269365C>T	gnomAD
RAX	Q9Y2V3	p.Pro228Gln	rs1169137333	missense variant	-	NC_000018.10:g.59269362G>T	gnomAD
RAX	Q9Y2V3	p.Gly231Ser	rs1354991570	missense variant	-	NC_000018.10:g.59269354C>T	gnomAD
RAX	Q9Y2V3	p.Gly231Asp	rs1183868195	missense variant	-	NC_000018.10:g.59269353C>T	gnomAD
RAX	Q9Y2V3	p.Gly233Trp	rs1030481316	missense variant	-	NC_000018.10:g.59269348C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly233Arg	rs1030481316	missense variant	-	NC_000018.10:g.59269348C>G	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly236Trp	rs781609155	missense variant	-	NC_000018.10:g.59269339C>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly236Arg	rs781609155	missense variant	-	NC_000018.10:g.59269339C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly236Glu	rs1210857244	missense variant	-	NC_000018.10:g.59269338C>T	TOPMed
RAX	Q9Y2V3	p.Gly237Asp	rs757339865	missense variant	-	NC_000018.10:g.59269335C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala238Val	rs1178558773	missense variant	-	NC_000018.10:g.59269332G>A	TOPMed
RAX	Q9Y2V3	p.Pro240Gln	rs1225320870	missense variant	-	NC_000018.10:g.59269326G>T	gnomAD
RAX	Q9Y2V3	p.Pro240Ser	rs1398849685	missense variant	-	NC_000018.10:g.59269327G>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro240Leu	rs1225320870	missense variant	-	NC_000018.10:g.59269326G>A	gnomAD
RAX	Q9Y2V3	p.Pro240Thr	rs1398849685	missense variant	-	NC_000018.10:g.59269327G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Glu242Gly	rs1245562074	missense variant	-	NC_000018.10:g.59269320T>C	gnomAD
RAX	Q9Y2V3	p.Gly246Arg	rs758557521	missense variant	-	NC_000018.10:g.59269309C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly246Arg	rs758557521	missense variant	-	NC_000018.10:g.59269309C>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro247Arg	rs929905002	missense variant	-	NC_000018.10:g.59269305G>C	TOPMed
RAX	Q9Y2V3	p.Pro248Gln	rs1415128508	missense variant	-	NC_000018.10:g.59269302G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro250Arg	rs1397116394	missense variant	-	NC_000018.10:g.59269296G>C	gnomAD
RAX	Q9Y2V3	p.Gly251Cys	rs1297596197	missense variant	-	NC_000018.10:g.59269294C>A	gnomAD
RAX	Q9Y2V3	p.Gly252Arg	rs1243020332	missense variant	-	NC_000018.10:g.59269291C>G	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly252Arg	rs1243020332	missense variant	-	NC_000018.10:g.59269291C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly253Asp	rs1439948106	missense variant	-	NC_000018.10:g.59269287C>T	TOPMed
RAX	Q9Y2V3	p.Ala254Asp	rs1443649592	missense variant	-	NC_000018.10:g.59269284G>T	gnomAD
RAX	Q9Y2V3	p.Ala254Thr	rs981941187	missense variant	-	NC_000018.10:g.59269285C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Thr255Met	rs1383699884	missense variant	-	NC_000018.10:g.59269281G>A	gnomAD
RAX	Q9Y2V3	p.Ala256Gly	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59269278G>C	NCI-TCGA
RAX	Q9Y2V3	p.Ala256Val	rs568443004	missense variant	-	NC_000018.10:g.59269278G>A	1000Genomes,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala256Glu	rs568443004	missense variant	-	NC_000018.10:g.59269278G>T	1000Genomes,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser259Ile	rs916632882	missense variant	-	NC_000018.10:g.59269269C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Leu260Met	rs1292617720	missense variant	-	NC_000018.10:g.59269267G>T	gnomAD
RAX	Q9Y2V3	p.Pro261Ser	rs1221950763	missense variant	-	NC_000018.10:g.59269264G>A	gnomAD
RAX	Q9Y2V3	p.Pro261Arg	rs1357553942	missense variant	-	NC_000018.10:g.59269263G>C	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro261Gln	rs1357553942	missense variant	-	NC_000018.10:g.59269263G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro261Leu	rs1357553942	missense variant	-	NC_000018.10:g.59269263G>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly262Ser	rs1240899262	missense variant	-	NC_000018.10:g.59269261C>T	gnomAD
RAX	Q9Y2V3	p.Gly264Ala	rs1234330530	missense variant	-	NC_000018.10:g.59269254C>G	TOPMed
RAX	Q9Y2V3	p.Gly264Arg	rs1331463555	missense variant	-	NC_000018.10:g.59269255C>G	TOPMed
RAX	Q9Y2V3	p.Pro265Thr	rs958025641	missense variant	-	NC_000018.10:g.59269252G>T	TOPMed
RAX	Q9Y2V3	p.Pro266Leu	rs1032334540	missense variant	-	NC_000018.10:g.59269248G>A	TOPMed
RAX	Q9Y2V3	p.Ala267Val	rs760516983	missense variant	-	NC_000018.10:g.59269245G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gln268Arg	rs1342141311	missense variant	-	NC_000018.10:g.59269242T>C	TOPMed
RAX	Q9Y2V3	p.Ser269Arg	rs1303236190	missense variant	-	NC_000018.10:g.59269238G>T	gnomAD
RAX	Q9Y2V3	p.Pro271Leu	rs1388119920	missense variant	-	NC_000018.10:g.59269233G>A	gnomAD
RAX	Q9Y2V3	p.Pro271Ser	rs1423526538	missense variant	-	NC_000018.10:g.59269234G>A	gnomAD
RAX	Q9Y2V3	p.Ala272Thr	rs550373835	missense variant	-	NC_000018.10:g.59269231C>T	1000Genomes,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser273Asn	rs767391972	missense variant	-	NC_000018.10:g.59269227C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Thr275Ala	rs1460420020	missense variant	-	NC_000018.10:g.59269222T>C	gnomAD
RAX	Q9Y2V3	p.Thr275Lys	rs1481712814	missense variant	-	NC_000018.10:g.59269221G>T	gnomAD
RAX	Q9Y2V3	p.Thr275Met	rs1481712814	missense variant	-	NC_000018.10:g.59269221G>A	gnomAD
RAX	Q9Y2V3	p.Pro277Leu	rs761843861	missense variant	-	NC_000018.10:g.59269215G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Pro277Gln	rs761843861	missense variant	-	NC_000018.10:g.59269215G>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Pro278Ser	rs1286579919	missense variant	-	NC_000018.10:g.59269213G>A	gnomAD
RAX	Q9Y2V3	p.Pro279Ala	RCV000358332	missense variant	-	NC_000018.10:g.59269210G>C	ClinVar
RAX	Q9Y2V3	p.Pro279Ser	rs886054025	missense variant	-	NC_000018.10:g.59269210G>A	gnomAD
RAX	Q9Y2V3	p.Pro279Arg	rs1259942750	missense variant	-	NC_000018.10:g.59269209G>C	gnomAD
RAX	Q9Y2V3	p.Pro279Ala	rs886054025	missense variant	-	NC_000018.10:g.59269210G>C	gnomAD
RAX	Q9Y2V3	p.Pro280Thr	rs368382344	missense variant	-	NC_000018.10:g.59269207G>T	ESP,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro280His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59269206G>T	NCI-TCGA
RAX	Q9Y2V3	p.Pro282Ser	rs1283915095	missense variant	-	NC_000018.10:g.59269201G>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Phe283Leu	rs1328892844	missense variant	-	NC_000018.10:g.59269196G>C	gnomAD
RAX	Q9Y2V3	p.Leu284Arg	rs1007084817	missense variant	-	NC_000018.10:g.59269194A>C	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser286Phe	rs762631419	missense variant	-	NC_000018.10:g.59269188G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser286Cys	rs762631419	missense variant	-	NC_000018.10:g.59269188G>C	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser286Pro	rs768229657	missense variant	-	NC_000018.10:g.59269189A>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser286Thr	rs768229657	missense variant	-	NC_000018.10:g.59269189A>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser286Tyr	rs762631419	missense variant	-	NC_000018.10:g.59269188G>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro287Leu	rs1430587459	missense variant	-	NC_000018.10:g.59269185G>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro287Thr	rs1471196907	missense variant	-	NC_000018.10:g.59269186G>T	gnomAD
RAX	Q9Y2V3	p.Pro287Gln	rs1430587459	missense variant	-	NC_000018.10:g.59269185G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro287Arg	rs1430587459	missense variant	-	NC_000018.10:g.59269185G>C	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro288Gln	rs538022273	missense variant	-	NC_000018.10:g.59269182G>T	1000Genomes,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Leu289Phe	rs770271072	missense variant	-	NC_000018.10:g.59269178C>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly290Ser	rs746285051	missense variant	-	NC_000018.10:g.59269177C>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Pro291Leu	rs1206575281	missense variant	-	NC_000018.10:g.59269173G>A	gnomAD
RAX	Q9Y2V3	p.Pro291Ser	rs1259995386	missense variant	-	NC_000018.10:g.59269174G>A	gnomAD
RAX	Q9Y2V3	p.Pro291His	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59269173G>T	NCI-TCGA
RAX	Q9Y2V3	p.Gly292Ser	rs777646611	missense variant	-	NC_000018.10:g.59269171C>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Gly292Val	rs1222857904	missense variant	-	NC_000018.10:g.59269170C>A	gnomAD
RAX	Q9Y2V3	p.Gln294Ter	rs1227616069	stop gained	-	NC_000018.10:g.59269165G>A	gnomAD
RAX	Q9Y2V3	p.Gln294Leu	rs1325479694	missense variant	-	NC_000018.10:g.59269164T>A	gnomAD
RAX	Q9Y2V3	p.Pro295Ser	rs1454893350	missense variant	-	NC_000018.10:g.59269162G>A	gnomAD
RAX	Q9Y2V3	p.Leu296Phe	rs916435844	missense variant	-	NC_000018.10:g.59269159G>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala297Glu	rs1487786504	missense variant	-	NC_000018.10:g.59269155G>T	TOPMed
RAX	Q9Y2V3	p.Ala297Ser	rs748352451	missense variant	-	NC_000018.10:g.59269156C>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala297Pro	rs748352451	missense variant	-	NC_000018.10:g.59269156C>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro299Leu	rs755869635	missense variant	-	NC_000018.10:g.59269149G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro299Gln	rs755869635	missense variant	-	NC_000018.10:g.59269149G>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro301Leu	rs750142920	missense variant	-	NC_000018.10:g.59269143G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Tyr303Ter	rs121909128	stop gained	Microphthalmia, isolated 3 (mcop3)	NC_000018.10:g.59269136G>C	-
RAX	Q9Y2V3	p.Tyr303Ter	RCV000008077	nonsense	Microphthalmia, isolated 3 (MCOP3)	NC_000018.10:g.59269136G>C	ClinVar
RAX	Q9Y2V3	p.Pro304Arg	rs1388527781	missense variant	-	NC_000018.10:g.59269134G>C	gnomAD
RAX	Q9Y2V3	p.Pro304Ser	rs767370608	missense variant	-	NC_000018.10:g.59269135G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Pro304Thr	rs767370608	missense variant	-	NC_000018.10:g.59269135G>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Cys305Trp	rs763693479	missense variant	-	NC_000018.10:g.59269130G>C	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Cys305Ser	COSM4932809	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59269132A>T	NCI-TCGA Cosmic
RAX	Q9Y2V3	p.Gly306Val	rs552408691	missense variant	-	NC_000018.10:g.59269128C>A	1000Genomes,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly306Arg	rs866212043	missense variant	-	NC_000018.10:g.59269129C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly306Ala	rs552408691	missense variant	-	NC_000018.10:g.59269128C>G	1000Genomes,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro307Ser	rs1202888373	missense variant	-	NC_000018.10:g.59269126G>A	gnomAD
RAX	Q9Y2V3	p.Gly308Asp	rs1195859063	missense variant	-	NC_000018.10:g.59269122C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly308Arg	rs765024850	missense variant	-	NC_000018.10:g.59269123C>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly308Ser	rs765024850	missense variant	-	NC_000018.10:g.59269123C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly308Ser	RCV000267034	missense variant	-	NC_000018.10:g.59269123C>T	ClinVar
RAX	Q9Y2V3	p.Phe309Leu	rs1312676073	missense variant	-	NC_000018.10:g.59269120A>G	TOPMed
RAX	Q9Y2V3	p.Gly310Arg	rs776800244	missense variant	-	NC_000018.10:g.59269117C>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly310Trp	rs776800244	missense variant	-	NC_000018.10:g.59269117C>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Gly310Arg	rs776800244	missense variant	-	NC_000018.10:g.59269117C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Asp311Gly	rs771327640	missense variant	-	NC_000018.10:g.59269113T>C	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Lys312Met	rs964898566	missense variant	-	NC_000018.10:g.59269110T>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Lys312Ter	rs1247754205	stop gained	-	NC_000018.10:g.59269111T>A	gnomAD
RAX	Q9Y2V3	p.Lys312Thr	COSM4072792	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59269110T>G	NCI-TCGA Cosmic
RAX	Q9Y2V3	p.Phe313Leu	rs1262066784	missense variant	-	NC_000018.10:g.59269106G>C	TOPMed
RAX	Q9Y2V3	p.Pro314Leu	rs747463549	missense variant	-	NC_000018.10:g.59269104G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Pro314Gln	rs747463549	missense variant	-	NC_000018.10:g.59269104G>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Asp316His	rs748266486	missense variant	-	NC_000018.10:g.59269099C>G	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Glu317Asp	rs1409423728	missense variant	-	NC_000018.10:g.59269094C>G	gnomAD
RAX	Q9Y2V3	p.Glu317Lys	rs778993934	missense variant	-	NC_000018.10:g.59269096C>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Asp319Asn	rs1368829275	missense variant	-	NC_000018.10:g.59269090C>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro320Leu	rs199988037	missense variant	-	NC_000018.10:g.59269086G>A	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro320Gln	rs199988037	missense variant	-	NC_000018.10:g.59269086G>T	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Pro320Ser	rs755146144	missense variant	-	NC_000018.10:g.59269087G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg321Cys	rs757143543	missense variant	-	NC_000018.10:g.59269084G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg321His	rs751442146	missense variant	-	NC_000018.10:g.59269083C>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Ser323Gly	rs764180472	missense variant	-	NC_000018.10:g.59269078T>C	ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Ser323Asn	rs1234510335	missense variant	-	NC_000018.10:g.59269077C>T	gnomAD
RAX	Q9Y2V3	p.Ala326Val	rs764850881	missense variant	-	NC_000018.10:g.59269068G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Ala327Val	rs1347145909	missense variant	-	NC_000018.10:g.59269065G>A	TOPMed
RAX	Q9Y2V3	p.Leu328Gln	rs759040170	missense variant	-	NC_000018.10:g.59269062A>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Arg329Pro	rs1290653439	missense variant	-	NC_000018.10:g.59269059C>G	gnomAD
RAX	Q9Y2V3	p.Arg329Cys	COSM4855893	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000018.10:g.59269060G>A	NCI-TCGA Cosmic
RAX	Q9Y2V3	p.Ala332Asp	rs527976702	missense variant	-	NC_000018.10:g.59269050G>T	1000Genomes,ExAC,gnomAD
RAX	Q9Y2V3	p.Ala332Ser	rs1376038863	missense variant	-	NC_000018.10:g.59269051C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Lys333Arg	rs896866240	missense variant	-	NC_000018.10:g.59269047T>C	TOPMed,gnomAD
RAX	Q9Y2V3	p.Glu334Ter	rs1348646573	stop gained	-	NC_000018.10:g.59269045C>A	gnomAD
RAX	Q9Y2V3	p.Glu334Val	rs1305034590	missense variant	-	NC_000018.10:g.59269044T>A	gnomAD
RAX	Q9Y2V3	p.His335Arg	rs1307630585	missense variant	-	NC_000018.10:g.59269041T>C	TOPMed
RAX	Q9Y2V3	p.Gln337His	rs772527097	missense variant	-	NC_000018.10:g.59269034C>G	ExAC,gnomAD
RAX	Q9Y2V3	p.Ala338Asp	rs1403357942	missense variant	-	NC_000018.10:g.59269032G>T	gnomAD
RAX	Q9Y2V3	p.Ala338Val	rs1403357942	missense variant	-	NC_000018.10:g.59269032G>A	gnomAD
RAX	Q9Y2V3	p.Ile339Val	rs558964922	missense variant	-	NC_000018.10:g.59269030T>C	1000Genomes
RAX	Q9Y2V3	p.Ile339Met	rs1194859377	missense variant	-	NC_000018.10:g.59269028G>C	gnomAD
RAX	Q9Y2V3	p.Gly340Trp	NCI-TCGA novel	missense variant	-	NC_000018.10:g.59269027C>A	NCI-TCGA
RAX	Q9Y2V3	p.Pro342Thr	rs1409927944	missense variant	-	NC_000018.10:g.59269021G>T	gnomAD
RAX	Q9Y2V3	p.Pro342Gln	rs191858058	missense variant	-	NC_000018.10:g.59269020G>T	1000Genomes,ExAC,TOPMed,gnomAD
RAX	Q9Y2V3	p.Trp343Ter	rs1200942266	stop gained	-	NC_000018.10:g.59269016C>T	gnomAD
RAX	Q9Y2V3	p.Trp343Leu	rs1046304688	missense variant	-	NC_000018.10:g.59269017C>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ala345Val	rs774359550	missense variant	-	NC_000018.10:g.59269011G>A	ExAC,gnomAD
RAX	Q9Y2V3	p.Ala345Asp	rs774359550	missense variant	-	NC_000018.10:g.59269011G>T	ExAC,gnomAD
RAX	Q9Y2V3	p.Leu346Arg	rs1256141890	missense variant	-	NC_000018.10:g.59269008A>C	TOPMed
RAX	Q9Y2V3	p.Leu346Phe	rs1013951443	missense variant	-	NC_000018.10:g.59269009G>A	TOPMed,gnomAD
RAX	Q9Y2V3	p.Leu346Ile	rs1013951443	missense variant	-	NC_000018.10:g.59269009G>T	TOPMed,gnomAD
RAX	Q9Y2V3	p.Ter347Tyr	rs1285407011	stop lost	-	NC_000018.10:g.59269004C>G	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala3Thr	rs776599970	missense variant	-	NC_000015.10:g.55588846C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Glu4Lys	rs768745111	missense variant	-	NC_000015.10:g.55588843C>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn5Ser	rs747239416	missense variant	-	NC_000015.10:g.55588839T>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ser6Pro	rs758681711	missense variant	-	NC_000015.10:g.55588837A>G	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser6Tyr	rs749163962	missense variant	-	NC_000015.10:g.55588836G>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser6Phe	rs749163962	missense variant	-	NC_000015.10:g.55588836G>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser6Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55588837A>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Pro9Ala	rs1380166417	missense variant	-	NC_000015.10:g.55588828G>C	gnomAD
PYGO1	Q9Y3Y4	p.Pro9Leu	rs756015134	missense variant	-	NC_000015.10:g.55588827G>A	gnomAD
PYGO1	Q9Y3Y4	p.Ala10Val	rs1398772812	missense variant	-	NC_000015.10:g.55588824G>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Tyr11His	rs1185406966	missense variant	-	NC_000015.10:g.55588822A>G	TOPMed
PYGO1	Q9Y3Y4	p.Lys12Ter	COSM963080	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55588819T>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Ser14Tyr	rs544381422	missense variant	-	NC_000015.10:g.55588812G>T	1000Genomes,ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ser15Leu	COSM1373628	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55588809G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Ser15Trp	rs1259178158	missense variant	-	NC_000015.10:g.55588809G>C	TOPMed
PYGO1	Q9Y3Y4	p.His16Pro	rs1191759301	missense variant	-	NC_000015.10:g.55588806T>G	TOPMed
PYGO1	Q9Y3Y4	p.His16Asn	rs1475254788	missense variant	-	NC_000015.10:g.55588807G>T	TOPMed
PYGO1	Q9Y3Y4	p.Gly17Val	rs762180451	missense variant	-	NC_000015.10:g.55548995C>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gly17Ser	rs145581831	missense variant	-	NC_000015.10:g.55588804C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly17Asp	rs762180451	missense variant	-	NC_000015.10:g.55548995C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gly17Val	rs762180451	missense variant	-	NC_000015.10:g.55548995C>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Gly18Arg	rs764729998	missense variant	-	NC_000015.10:g.55548993C>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asp19Gly	rs547585077	missense variant	-	NC_000015.10:g.55548989T>C	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asp19Val	rs547585077	missense variant	-	NC_000015.10:g.55548989T>A	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser20Gly	rs1450156882	missense variant	-	NC_000015.10:g.55548987T>C	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly21Glu	COSM470839	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55548983C>T	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Gly24Ala	rs564379685	missense variant	-	NC_000015.10:g.55548974C>G	gnomAD
PYGO1	Q9Y3Y4	p.Gly24Val	rs564379685	missense variant	-	NC_000015.10:g.55548974C>A	gnomAD
PYGO1	Q9Y3Y4	p.Gly24Arg	rs759841393	missense variant	-	NC_000015.10:g.55548975C>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gly24Arg	rs759841393	missense variant	-	NC_000015.10:g.55548975C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gly29Asp	rs771299672	missense variant	-	NC_000015.10:g.55548959C>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly29Asp	rs771299672	missense variant	-	NC_000015.10:g.55548959C>T	NCI-TCGA,NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Gln31Arg	rs1309019211	missense variant	-	NC_000015.10:g.55548953T>C	TOPMed
PYGO1	Q9Y3Y4	p.Leu32Val	rs1394778807	missense variant	-	NC_000015.10:g.55548951G>C	TOPMed
PYGO1	Q9Y3Y4	p.Ser34Asn	COSM4055774	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55548944C>T	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Pro35Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55548942G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Asp36Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55548939C>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Lys39Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.55548930T>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Arg40Cys	rs147959519	missense variant	-	NC_000015.10:g.55548927G>A	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg40His	rs779574413	missense variant	-	NC_000015.10:g.55548926C>T	NCI-TCGA,NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Arg40His	rs779574413	missense variant	-	NC_000015.10:g.55548926C>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg40Cys	rs147959519	missense variant	-	NC_000015.10:g.55548927G>A	NCI-TCGA,NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Ala42Val	rs371375215	missense variant	-	NC_000015.10:g.55548920G>A	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Thr44Ile	rs778686163	missense variant	-	NC_000015.10:g.55548914G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gln45Arg	rs1380667491	missense variant	-	NC_000015.10:g.55548911T>C	gnomAD
PYGO1	Q9Y3Y4	p.Gln45TyrGly	NCI-TCGA novel	insertion	-	NC_000015.10:g.55547147_55547148insCCCATA	NCI-TCGA
PYGO1	Q9Y3Y4	p.Gln45His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55548910C>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Pro47Leu	COSM3887208	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55547143G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Pro47His	rs1203891994	missense variant	-	NC_000015.10:g.55547143G>T	gnomAD
PYGO1	Q9Y3Y4	p.Ser48Pro	rs746956079	missense variant	-	NC_000015.10:g.55547141A>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Phe49Leu	rs775353014	missense variant	-	NC_000015.10:g.55547136G>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Pro50Thr	rs1217424271	missense variant	-	NC_000015.10:g.55547135G>T	gnomAD
PYGO1	Q9Y3Y4	p.Leu52Phe	rs774086359	missense variant	-	NC_000015.10:g.55547127C>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Glu54Asp	rs1445782490	missense variant	-	NC_000015.10:g.55547121C>G	gnomAD
PYGO1	Q9Y3Y4	p.Glu54Gln	rs1228000597	missense variant	-	NC_000015.10:g.55547123C>G	TOPMed
PYGO1	Q9Y3Y4	p.Ala56Thr	rs1339627735	missense variant	-	NC_000015.10:g.55547117C>T	gnomAD
PYGO1	Q9Y3Y4	p.Pro58Leu	rs370670911	missense variant	-	NC_000015.10:g.55547110G>A	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro59Leu	rs1170267075	missense variant	-	NC_000015.10:g.55547107G>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro59Gln	rs1170267075	missense variant	-	NC_000015.10:g.55547107G>T	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn60Ile	rs1421793268	missense variant	-	NC_000015.10:g.55547104T>A	gnomAD
PYGO1	Q9Y3Y4	p.Asn60Lys	rs1174100696	missense variant	-	NC_000015.10:g.55547103A>C	gnomAD
PYGO1	Q9Y3Y4	p.Asn62Asp	rs1472792542	missense variant	-	NC_000015.10:g.55547099T>C	gnomAD
PYGO1	Q9Y3Y4	p.Asn62Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55547097G>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Ser63Pro	rs753098064	missense variant	-	NC_000015.10:g.55547096A>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ser63Ala	rs753098064	missense variant	-	NC_000015.10:g.55547096A>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asp64His	rs768200892	missense variant	-	NC_000015.10:g.55547093C>G	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asp64Tyr	rs768200892	missense variant	-	NC_000015.10:g.55547093C>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.His65Arg	rs755404445	missense variant	-	NC_000015.10:g.55547089T>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala69Gly	rs751707399	missense variant	-	NC_000015.10:g.55547077G>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asn75Ser	rs1307530418	missense variant	-	NC_000015.10:g.55547059T>C	gnomAD
PYGO1	Q9Y3Y4	p.Tyr76Asp	rs1377565424	missense variant	-	NC_000015.10:g.55547057A>C	TOPMed
PYGO1	Q9Y3Y4	p.Tyr76Cys	rs1274559127	missense variant	-	NC_000015.10:g.55547056T>C	gnomAD
PYGO1	Q9Y3Y4	p.Thr78Ala	rs1479783212	missense variant	-	NC_000015.10:g.55547051T>C	TOPMed
PYGO1	Q9Y3Y4	p.Ile79Val	rs374511718	missense variant	-	NC_000015.10:g.55547048T>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Tyr81Ser	rs1355631791	missense variant	-	NC_000015.10:g.55547041T>G	gnomAD
PYGO1	Q9Y3Y4	p.Tyr81Cys	rs1355631791	missense variant	-	NC_000015.10:g.55547041T>C	gnomAD
PYGO1	Q9Y3Y4	p.Leu84Val	rs763893571	missense variant	-	NC_000015.10:g.55547033G>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro85Ser	rs1374429746	missense variant	-	NC_000015.10:g.55547030G>A	gnomAD
PYGO1	Q9Y3Y4	p.Pro85Arg	rs760526739	missense variant	-	NC_000015.10:g.55547029G>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ser86Trp	rs144572806	missense variant	-	NC_000015.10:g.55547026G>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser86Leu	rs144572806	missense variant	-	NC_000015.10:g.55547026G>A	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser86Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55547027A>G	NCI-TCGA
PYGO1	Q9Y3Y4	p.Tyr90Ser	rs773940802	missense variant	-	NC_000015.10:g.55547014T>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Leu91Val	rs770278178	missense variant	-	NC_000015.10:g.55547012G>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Leu91Ile	rs770278178	missense variant	-	NC_000015.10:g.55547012G>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Leu91Phe	rs770278178	missense variant	-	NC_000015.10:g.55547012G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Leu91Val	rs770278178	missense variant	-	NC_000015.10:g.55547012G>C	NCI-TCGA
PYGO1	Q9Y3Y4	p.Pro93Ser	rs777622851	missense variant	-	NC_000015.10:g.55547006G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Pro93Ser	rs777622851	missense variant	-	NC_000015.10:g.55547006G>A	NCI-TCGA,NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Gly94Ser	COSM2218384	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55547003C>T	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Gly94Cys	rs1211290129	missense variant	-	NC_000015.10:g.55547003C>A	gnomAD
PYGO1	Q9Y3Y4	p.Tyr95Phe	rs755823830	missense variant	-	NC_000015.10:g.55546999T>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Pro96Arg	rs748562151	missense variant	-	NC_000015.10:g.55546996G>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Phe98Ile	rs781672918	missense variant	-	NC_000015.10:g.55546991A>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Phe98Leu	rs781672918	missense variant	-	NC_000015.10:g.55546991A>G	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly100Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546985C>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Tyr101Cys	rs755529086	missense variant	-	NC_000015.10:g.55546981T>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg105Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546969C>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.His109Asn	rs1292361783	missense variant	-	NC_000015.10:g.55546958G>T	gnomAD
PYGO1	Q9Y3Y4	p.Val110Phe	rs758353539	missense variant	-	NC_000015.10:g.55546955C>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Val110Ile	rs758353539	missense variant	-	NC_000015.10:g.55546955C>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro111Ser	rs867924163	missense variant	-	NC_000015.10:g.55546952G>A	gnomAD
PYGO1	Q9Y3Y4	p.Pro111Ala	rs867924163	missense variant	-	NC_000015.10:g.55546952G>C	gnomAD
PYGO1	Q9Y3Y4	p.Pro111Ser	rs867924163	missense variant	-	NC_000015.10:g.55546952G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Pro112Leu	rs144538691	missense variant	-	NC_000015.10:g.55546948G>A	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro112Thr	rs1224537062	missense variant	-	NC_000015.10:g.55546949G>T	gnomAD
PYGO1	Q9Y3Y4	p.Arg113Lys	rs144256265	missense variant	-	NC_000015.10:g.55546945C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg113LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.55546947_55546948insG	NCI-TCGA
PYGO1	Q9Y3Y4	p.Met114Thr	rs1435788383	missense variant	-	NC_000015.10:g.55546942A>G	gnomAD
PYGO1	Q9Y3Y4	p.Met114Leu	rs1277716719	missense variant	-	NC_000015.10:g.55546943T>A	gnomAD
PYGO1	Q9Y3Y4	p.Ser116Pro	rs1212862618	missense variant	-	NC_000015.10:g.55546937A>G	gnomAD
PYGO1	Q9Y3Y4	p.Ser116Phe	rs761994808	missense variant	-	NC_000015.10:g.55546936G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Pro117Leu	rs775316329	missense variant	-	NC_000015.10:g.55546933G>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Cys119Tyr	rs1381650620	missense variant	-	NC_000015.10:g.55546927C>T	gnomAD
PYGO1	Q9Y3Y4	p.Cys119Trp	rs767170875	missense variant	-	NC_000015.10:g.55546926A>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gly120Arg	rs563762840	missense variant	-	NC_000015.10:g.55546925C>G	1000Genomes,ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Tyr122Ter	COSM416889	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546917G>T	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Ser123Leu	COSM3816386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546915G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Arg125Lys	rs1409647183	missense variant	-	NC_000015.10:g.55546909C>T	gnomAD
PYGO1	Q9Y3Y4	p.Arg125Met	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546909C>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Asn126Thr	rs139317374	missense variant	-	NC_000015.10:g.55546906T>G	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn126Ser	rs139317374	missense variant	-	NC_000015.10:g.55546906T>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gln127Leu	rs1477392269	missense variant	-	NC_000015.10:g.55546903T>A	gnomAD
PYGO1	Q9Y3Y4	p.Pro128Arg	rs1269039140	missense variant	-	NC_000015.10:g.55546900G>C	gnomAD
PYGO1	Q9Y3Y4	p.Pro130Ala	rs769619041	missense variant	-	NC_000015.10:g.55546895G>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Pro130Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546894G>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Pro132Ser	rs781712789	missense variant	-	NC_000015.10:g.55546889G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gln133Arg	rs1318526081	missense variant	-	NC_000015.10:g.55546885T>C	gnomAD
PYGO1	Q9Y3Y4	p.Asn134Ser	rs1299414748	missense variant	-	NC_000015.10:g.55546882T>C	gnomAD
PYGO1	Q9Y3Y4	p.Pro135Leu	rs146232720	missense variant	-	NC_000015.10:g.55546879G>A	ESP,TOPMed
PYGO1	Q9Y3Y4	p.Pro135Ser	COSM4055773	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546880G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Gly137Cys	rs768837584	missense variant	-	NC_000015.10:g.55546874C>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly137Arg	rs768837584	missense variant	-	NC_000015.10:g.55546874C>G	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Met138Arg	rs550229225	missense variant	-	NC_000015.10:g.55546870A>C	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Met138Thr	rs550229225	missense variant	-	NC_000015.10:g.55546870A>G	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Met138Ile	rs201851951	missense variant	-	NC_000015.10:g.55546869C>T	1000Genomes,ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gly139Ser	rs750545802	missense variant	-	NC_000015.10:g.55546868C>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg142Pro	rs1454554374	missense variant	-	NC_000015.10:g.55546858C>G	TOPMed
PYGO1	Q9Y3Y4	p.Arg142Gly	rs199862482	missense variant	-	NC_000015.10:g.55546859G>C	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg142Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.55546859G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Pro143Ala	rs141757049	missense variant	-	NC_000015.10:g.55546856G>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro143Ser	rs141757049	missense variant	-	NC_000015.10:g.55546856G>A	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro143Thr	rs141757049	missense variant	-	NC_000015.10:g.55546856G>T	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.His144Tyr	rs766267840	missense variant	-	NC_000015.10:g.55546853G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.His144Tyr	rs766267840	missense variant	-	NC_000015.10:g.55546853G>A	NCI-TCGA,NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Ala145Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546850C>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Asn147Asp	rs1429378012	missense variant	-	NC_000015.10:g.55546844T>C	gnomAD
PYGO1	Q9Y3Y4	p.Asn147Asp	rs1429378012	missense variant	-	NC_000015.10:g.55546844T>C	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Phe148Cys	rs1200875048	missense variant	-	NC_000015.10:g.55546840A>C	gnomAD
PYGO1	Q9Y3Y4	p.Gly149Arg	rs772869757	missense variant	-	NC_000015.10:g.55546838C>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.His151Arg	rs769387539	missense variant	-	NC_000015.10:g.55546831T>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser155Ile	rs34871247	missense variant	-	NC_000015.10:g.55546819C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Phe156Leu	rs200667416	missense variant	-	NC_000015.10:g.55546815G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly157Ser	rs747400270	missense variant	-	NC_000015.10:g.55546814C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ser160Phe	rs1216808536	missense variant	-	NC_000015.10:g.55546804G>A	gnomAD
PYGO1	Q9Y3Y4	p.Ser160Tyr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546804G>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Leu165Pro	rs1243658650	missense variant	-	NC_000015.10:g.55546789A>G	TOPMed
PYGO1	Q9Y3Y4	p.Ser166Gly	rs1291443114	missense variant	-	NC_000015.10:g.55546787T>C	TOPMed
PYGO1	Q9Y3Y4	p.Gln167Leu	rs746328743	missense variant	-	NC_000015.10:g.55546783T>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gln167His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546782C>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Val169Leu	rs144876912	missense variant	-	NC_000015.10:g.55546778C>G	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn170Ser	rs777920900	missense variant	-	NC_000015.10:g.55546774T>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Met171Val	rs756324582	missense variant	-	NC_000015.10:g.55546772T>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro172Leu	rs751360146	missense variant	-	NC_000015.10:g.55546768G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.His175Arg	rs766148029	missense variant	-	NC_000015.10:g.55546759T>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.His175Gln	rs1430295545	missense variant	-	NC_000015.10:g.55546758A>C	gnomAD
PYGO1	Q9Y3Y4	p.Phe176Tyr	rs1253808874	missense variant	-	NC_000015.10:g.55546756A>T	gnomAD
PYGO1	Q9Y3Y4	p.Arg177Thr	rs763013720	missense variant	-	NC_000015.10:g.55546753C>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asn179Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546746A>C	NCI-TCGA
PYGO1	Q9Y3Y4	p.Pro180Arg	rs1483049712	missense variant	-	NC_000015.10:g.55546744G>C	TOPMed
PYGO1	Q9Y3Y4	p.Pro180Ser	COSM1373625	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546745G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Ala181Ser	rs764855179	missense variant	-	NC_000015.10:g.55546742C>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser185Arg	rs1046002289	missense variant	-	NC_000015.10:g.55546730T>G	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser185LysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.55546726_55546729TGAC>-	NCI-TCGA
PYGO1	Q9Y3Y4	p.Ser185Gly	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546730T>C	NCI-TCGA
PYGO1	Q9Y3Y4	p.Gln186His	rs573318592	missense variant	-	NC_000015.10:g.55546725T>G	TOPMed
PYGO1	Q9Y3Y4	p.Ile187Val	rs546121595	missense variant	-	NC_000015.10:g.55546724T>C	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ile187Phe	rs546121595	missense variant	-	NC_000015.10:g.55546724T>A	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro188Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546721G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Gln190His	rs915937334	missense variant	-	NC_000015.10:g.55546713C>G	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala192Thr	rs376229450	missense variant	-	NC_000015.10:g.55546709C>T	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser193Asn	rs763694252	missense variant	-	NC_000015.10:g.55546705C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gln194Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546703G>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Val195Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546699A>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Ser196Ala	rs1453773623	missense variant	-	NC_000015.10:g.55546697A>C	gnomAD
PYGO1	Q9Y3Y4	p.Asn197Ile	rs1385476074	missense variant	-	NC_000015.10:g.55546693T>A	gnomAD
PYGO1	Q9Y3Y4	p.Pro198His	rs147976957	missense variant	-	NC_000015.10:g.55546690G>T	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro198Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546691G>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Asp199Tyr	rs988814042	missense variant	-	NC_000015.10:g.55546688C>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asp199Asn	rs988814042	missense variant	-	NC_000015.10:g.55546688C>T	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala201Ser	rs769596095	missense variant	-	NC_000015.10:g.55546682C>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser202Thr	rs957373654	missense variant	-	NC_000015.10:g.55546679A>T	gnomAD
PYGO1	Q9Y3Y4	p.Ser202Pro	rs957373654	missense variant	-	NC_000015.10:g.55546679A>G	gnomAD
PYGO1	Q9Y3Y4	p.Asn203Asp	rs1463070408	missense variant	-	NC_000015.10:g.55546676T>C	gnomAD
PYGO1	Q9Y3Y4	p.Asn203Lys	rs1380967534	missense variant	-	NC_000015.10:g.55546674A>C	TOPMed
PYGO1	Q9Y3Y4	p.Pro206His	COSM963077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546666G>T	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Pro206Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546667G>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Asn208Asp	rs1162871540	missense variant	-	NC_000015.10:g.55546661T>C	gnomAD
PYGO1	Q9Y3Y4	p.Asn211Asp	rs1386918543	missense variant	-	NC_000015.10:g.55546652T>C	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn211His	rs1386918543	missense variant	-	NC_000015.10:g.55546652T>G	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Phe212Val	COSM963076	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546649A>C	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Phe212Leu	rs771420337	missense variant	-	NC_000015.10:g.55546647A>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser214Ala	rs749363603	missense variant	-	NC_000015.10:g.55546643A>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Pro215Leu	rs777886311	missense variant	-	NC_000015.10:g.55546639G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Pro215Leu	rs777886311	missense variant	-	NC_000015.10:g.55546639G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Leu216Ser	rs578049597	missense variant	-	NC_000015.10:g.55546636A>G	1000Genomes,ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Glu217Asp	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546632T>G	NCI-TCGA
PYGO1	Q9Y3Y4	p.Ser218Tyr	COSM963074	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546630G>T	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Asn219Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546626A>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.His220Asp	rs1247395979	missense variant	-	NC_000015.10:g.55546625G>C	gnomAD
PYGO1	Q9Y3Y4	p.Ser221Tyr	rs1253103732	missense variant	-	NC_000015.10:g.55546621G>T	TOPMed
PYGO1	Q9Y3Y4	p.Ser221Phe	COSM3502556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546621G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Phe222Val	rs758212006	missense variant	-	NC_000015.10:g.55546619A>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ile223Ser	rs1237500274	missense variant	-	NC_000015.10:g.55546615A>C	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro224Leu	rs1183146996	missense variant	-	NC_000015.10:g.55546612G>A	TOPMed
PYGO1	Q9Y3Y4	p.Pro224Leu	rs1183146996	missense variant	-	NC_000015.10:g.55546612G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Pro224His	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546612G>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Pro224Ser	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546613G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Pro226Gln	rs750231673	missense variant	-	NC_000015.10:g.55546606G>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Thr228Ala	rs1392571394	missense variant	-	NC_000015.10:g.55546601T>C	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala232Glu	rs753341877	missense variant	-	NC_000015.10:g.55546588G>T	ExAC,TOPMed
PYGO1	Q9Y3Y4	p.Ala232Thr	rs376483058	missense variant	-	NC_000015.10:g.55546589C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala232Val	rs753341877	missense variant	-	NC_000015.10:g.55546588G>A	ExAC,TOPMed
PYGO1	Q9Y3Y4	p.Pro235Ser	rs763614854	missense variant	-	NC_000015.10:g.55546580G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Pro237Thr	rs143461426	missense variant	-	NC_000015.10:g.55546574G>T	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro237Leu	COSM3502554	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546573G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Pro237Ala	rs143461426	missense variant	-	NC_000015.10:g.55546574G>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gln239Pro	rs1156541462	missense variant	-	NC_000015.10:g.55546567T>G	gnomAD
PYGO1	Q9Y3Y4	p.Asp240Gly	rs538321943	missense variant	-	NC_000015.10:g.55546564T>C	1000Genomes,ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asp240Asn	rs546023986	missense variant	-	NC_000015.10:g.55546565C>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Phe241Val	rs774663751	missense variant	-	NC_000015.10:g.55546562A>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Thr242Ile	rs1266821536	missense variant	-	NC_000015.10:g.55546558G>A	gnomAD
PYGO1	Q9Y3Y4	p.Thr242Ala	rs1431479031	missense variant	-	NC_000015.10:g.55546559T>C	gnomAD
PYGO1	Q9Y3Y4	p.Gln243Arg	rs749754419	missense variant	-	NC_000015.10:g.55546555T>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gln243Glu	rs374943202	missense variant	-	NC_000015.10:g.55546556G>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gln243Glu	rs374943202	missense variant	-	NC_000015.10:g.55546556G>C	NCI-TCGA
PYGO1	Q9Y3Y4	p.Ala245Glu	rs1216267565	missense variant	-	NC_000015.10:g.55546549G>T	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala245Val	rs1216267565	missense variant	-	NC_000015.10:g.55546549G>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn248Lys	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546539G>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Gln251Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.55546532G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Asn252Ile	rs1007307667	missense variant	-	NC_000015.10:g.55546528T>A	TOPMed
PYGO1	Q9Y3Y4	p.Ser253Phe	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546525G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Ala255Val	rs957073068	missense variant	-	NC_000015.10:g.55546519G>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.His256Tyr	rs1279726254	missense variant	-	NC_000015.10:g.55546517G>A	gnomAD
PYGO1	Q9Y3Y4	p.His256Pro	rs769843743	missense variant	-	NC_000015.10:g.55546516T>G	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro257Leu	rs1328836322	missense variant	-	NC_000015.10:g.55546513G>A	gnomAD
PYGO1	Q9Y3Y4	p.Pro258His	rs575696638	missense variant	-	NC_000015.10:g.55546510G>T	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Met262Ile	rs201235968	missense variant	-	NC_000015.10:g.55546497C>G	1000Genomes,ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asp264Glu	rs1261411983	missense variant	-	NC_000015.10:g.55546491G>C	TOPMed
PYGO1	Q9Y3Y4	p.Thr265Ser	rs1045965174	missense variant	-	NC_000015.10:g.55546490T>A	TOPMed
PYGO1	Q9Y3Y4	p.Gln268His	rs1204597388	missense variant	-	NC_000015.10:g.55546479C>A	TOPMed
PYGO1	Q9Y3Y4	p.Asn270Thr	rs1312699328	missense variant	-	NC_000015.10:g.55546474T>G	gnomAD
PYGO1	Q9Y3Y4	p.Ile271Thr	rs778829834	missense variant	-	NC_000015.10:g.55546471A>G	NCI-TCGA
PYGO1	Q9Y3Y4	p.Ile271Thr	rs778829834	missense variant	-	NC_000015.10:g.55546471A>G	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Glu272Asp	rs1448691713	missense variant	-	NC_000015.10:g.55546467T>A	gnomAD
PYGO1	Q9Y3Y4	p.Leu273Phe	rs1160488904	missense variant	-	NC_000015.10:g.55546464T>A	gnomAD
PYGO1	Q9Y3Y4	p.Asn275Ser	rs949944347	missense variant	-	NC_000015.10:g.55546459T>C	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn275Ile	rs949944347	missense variant	-	NC_000015.10:g.55546459T>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn275MetPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000015.10:g.55546459T>-	NCI-TCGA
PYGO1	Q9Y3Y4	p.Asn275Ser	rs949944347	missense variant	-	NC_000015.10:g.55546459T>C	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Val276Ile	rs1428677537	missense variant	-	NC_000015.10:g.55546457C>T	gnomAD
PYGO1	Q9Y3Y4	p.Asn277Ser	rs1200151670	missense variant	-	NC_000015.10:g.55546453T>C	gnomAD
PYGO1	Q9Y3Y4	p.Asn277Asp	rs1400966915	missense variant	-	NC_000015.10:g.55546454T>C	gnomAD
PYGO1	Q9Y3Y4	p.Arg278Ter	COSM2218373	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546451G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Arg278Gln	rs200070647	missense variant	-	NC_000015.10:g.55546450C>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Arg278Gln	rs200070647	missense variant	-	NC_000015.10:g.55546450C>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn279Ser	rs1420127656	missense variant	-	NC_000015.10:g.55546447T>C	TOPMed
PYGO1	Q9Y3Y4	p.Asn280Asp	rs753773381	missense variant	-	NC_000015.10:g.55546445T>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asn280Ser	rs148843644	missense variant	-	NC_000015.10:g.55546444T>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asn283His	rs1173593589	missense variant	-	NC_000015.10:g.55546436T>G	TOPMed
PYGO1	Q9Y3Y4	p.Glu285Lys	rs913028237	missense variant	-	NC_000015.10:g.55546430C>T	TOPMed
PYGO1	Q9Y3Y4	p.Asn286Asp	rs757026680	missense variant	-	NC_000015.10:g.55546427T>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser287Gly	rs767194177	missense variant	-	NC_000015.10:g.55546424T>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg288His	rs751942366	missense variant	-	NC_000015.10:g.55546420C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Arg288Cys	rs371893591	missense variant	-	NC_000015.10:g.55546421G>A	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg288Cys	rs371893591	missense variant	-	NC_000015.10:g.55546421G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Ser289Leu	COSM3887206	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546417G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Thr292Ser	rs1223541663	missense variant	-	NC_000015.10:g.55546409T>A	gnomAD
PYGO1	Q9Y3Y4	p.Thr292Asn	rs1325113369	missense variant	-	NC_000015.10:g.55546408G>T	gnomAD
PYGO1	Q9Y3Y4	p.Glu293Lys	rs763372309	missense variant	-	NC_000015.10:g.55546406C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asn296Tyr	rs1363261271	missense variant	-	NC_000015.10:g.55546397T>A	TOPMed
PYGO1	Q9Y3Y4	p.Asn297Ile	rs1394072810	missense variant	-	NC_000015.10:g.55546393T>A	gnomAD
PYGO1	Q9Y3Y4	p.Pro299His	rs11858624	missense variant	-	NC_000015.10:g.55546387G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala300Pro	rs769050281	missense variant	-	NC_000015.10:g.55546385C>G	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly302Arg	rs747182453	missense variant	-	NC_000015.10:g.55546379C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Thr303Ser	rs1047604341	missense variant	-	NC_000015.10:g.55546376T>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Thr303Met	rs147078512	missense variant	-	NC_000015.10:g.55546375G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gln304Ter	NCI-TCGA novel	stop gained	-	NC_000015.10:g.55546373G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Pro307Ser	rs755117683	missense variant	-	NC_000015.10:g.55546364G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Arg308Gln	rs755971128	missense variant	-	NC_000015.10:g.55546360C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Arg308Ter	COSM1373623	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546361G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Gln309Lys	rs780628154	missense variant	-	NC_000015.10:g.55546358G>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Pro310Ala	rs751144748	missense variant	-	NC_000015.10:g.55546355G>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro310Arg	rs1270364746	missense variant	-	NC_000015.10:g.55546354G>C	TOPMed
PYGO1	Q9Y3Y4	p.Arg311Thr	rs766740459	missense variant	-	NC_000015.10:g.55546351C>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gly312Asp	rs763431118	missense variant	-	NC_000015.10:g.55546348C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ala313Val	rs765815616	missense variant	-	NC_000015.10:g.55546345G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ala313Thr	rs750750474	missense variant	-	NC_000015.10:g.55546346C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asp315Tyr	rs776874665	missense variant	-	NC_000015.10:g.55546340C>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ala316Val	rs1027394940	missense variant	-	NC_000015.10:g.55546336G>A	TOPMed
PYGO1	Q9Y3Y4	p.Ala316Gly	rs1027394940	missense variant	-	NC_000015.10:g.55546336G>C	TOPMed
PYGO1	Q9Y3Y4	p.Cys317Tyr	rs1398200921	missense variant	-	NC_000015.10:g.55546333C>T	gnomAD
PYGO1	Q9Y3Y4	p.Cys317Phe	rs1398200921	missense variant	-	NC_000015.10:g.55546333C>A	gnomAD
PYGO1	Q9Y3Y4	p.Thr318Ile	rs140625196	missense variant	-	NC_000015.10:g.55546330G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Thr318Asn	rs140625196	missense variant	-	NC_000015.10:g.55546330G>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Thr319Ala	rs760986457	missense variant	-	NC_000015.10:g.55546328T>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Thr319Ile	rs775800113	missense variant	-	NC_000015.10:g.55546327G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Glu320Gly	rs1162011584	missense variant	-	NC_000015.10:g.55546324T>C	gnomAD
PYGO1	Q9Y3Y4	p.Ser322Asn	rs1444364514	missense variant	-	NC_000015.10:g.55546318C>T	gnomAD
PYGO1	Q9Y3Y4	p.Lys324Thr	rs772173374	missense variant	-	NC_000015.10:g.55546312T>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ser325Pro	rs749144166	missense variant	-	NC_000015.10:g.55546310A>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ser326Phe	rs61737322	missense variant	-	NC_000015.10:g.55546306G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro329Ser	rs1014204278	missense variant	-	NC_000015.10:g.55546298G>A	gnomAD
PYGO1	Q9Y3Y4	p.Pro329Gln	rs748037581	missense variant	-	NC_000015.10:g.55546297G>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asn330Ser	rs1220211399	missense variant	-	NC_000015.10:g.55546294T>C	gnomAD
PYGO1	Q9Y3Y4	p.Arg331His	rs561670102	missense variant	-	NC_000015.10:g.55546291C>T	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg331Cys	rs780685282	missense variant	-	NC_000015.10:g.55546292G>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Arg331Pro	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546291C>G	NCI-TCGA
PYGO1	Q9Y3Y4	p.Arg331Cys	rs780685282	missense variant	-	NC_000015.10:g.55546292G>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.His332Leu	rs368421960	missense variant	-	NC_000015.10:g.55546288T>A	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.His332Arg	rs368421960	missense variant	-	NC_000015.10:g.55546288T>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser335Leu	rs1389657573	missense variant	-	NC_000015.10:g.55546279G>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser335Leu	rs1389657573	missense variant	-	NC_000015.10:g.55546279G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Ser336Tyr	rs754334597	missense variant	-	NC_000015.10:g.55546276G>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser336Phe	rs754334597	missense variant	-	NC_000015.10:g.55546276G>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser337Phe	rs764284876	missense variant	-	NC_000015.10:g.55546273G>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asp338Tyr	rs1052905917	missense variant	-	NC_000015.10:g.55546271C>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asp338Asn	rs1052905917	missense variant	-	NC_000015.10:g.55546271C>T	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro339Ser	rs760898097	missense variant	-	NC_000015.10:g.55546268G>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Val340Ala	rs1366577314	missense variant	-	NC_000015.10:g.55546264A>G	gnomAD
PYGO1	Q9Y3Y4	p.Pro342Ser	rs151028742	missense variant	-	NC_000015.10:g.55546259G>A	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro342Ala	rs151028742	missense variant	-	NC_000015.10:g.55546259G>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Pro342Thr	rs151028742	missense variant	-	NC_000015.10:g.55546259G>T	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly344Glu	rs1405283223	missense variant	-	NC_000015.10:g.55546252C>T	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly344Arg	rs1438238347	missense variant	-	NC_000015.10:g.55546253C>T	gnomAD
PYGO1	Q9Y3Y4	p.Gly344Val	rs1405283223	missense variant	-	NC_000015.10:g.55546252C>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Thr347Ala	rs773087656	missense variant	-	NC_000015.10:g.55546244T>C	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asn348Asp	rs1381263475	missense variant	-	NC_000015.10:g.55546241T>C	TOPMed
PYGO1	Q9Y3Y4	p.Glu349Lys	rs748090860	missense variant	-	NC_000015.10:g.55546238C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asn351Lys	rs776605770	missense variant	-	NC_000015.10:g.55546230G>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asp352Asn	rs768574871	missense variant	-	NC_000015.10:g.55546229C>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asp353Asn	rs1425896092	missense variant	-	NC_000015.10:g.55546226C>T	TOPMed
PYGO1	Q9Y3Y4	p.Asp353Ala	rs1328245582	missense variant	-	NC_000015.10:g.55546225T>G	TOPMed
PYGO1	Q9Y3Y4	p.Gln354His	rs746563853	missense variant	-	NC_000015.10:g.55546221C>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Asp355His	rs779411917	missense variant	-	NC_000015.10:g.55546220C>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ala361Val	rs1224592870	missense variant	-	NC_000015.10:g.55546201G>A	gnomAD
PYGO1	Q9Y3Y4	p.Ser362Cys	rs1014385575	missense variant	-	NC_000015.10:g.55546198G>C	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gln364Arg	rs200729272	missense variant	-	NC_000015.10:g.55546192T>C	ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg369Gln	rs779343554	missense variant	-	NC_000015.10:g.55546177C>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg369Trp	rs1364906693	missense variant	-	NC_000015.10:g.55546178G>A	gnomAD
PYGO1	Q9Y3Y4	p.Arg369Trp	rs1364906693	missense variant	-	NC_000015.10:g.55546178G>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Arg369Gln	rs779343554	missense variant	-	NC_000015.10:g.55546177C>T	NCI-TCGA,NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Ile370Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546174A>G	NCI-TCGA
PYGO1	Q9Y3Y4	p.Thr372Ser	rs1316978970	missense variant	-	NC_000015.10:g.55546168G>C	TOPMed
PYGO1	Q9Y3Y4	p.Gly373Ter	COSM4055770	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546166C>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Thr375Ile	rs1345009430	missense variant	-	NC_000015.10:g.55546159G>A	gnomAD
PYGO1	Q9Y3Y4	p.Glu376Ala	rs757641983	missense variant	-	NC_000015.10:g.55546156T>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Thr377Ala	rs754244655	missense variant	-	NC_000015.10:g.55546154T>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala378Asp	COSM700914	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546150G>T	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Tyr379Phe	rs764767344	missense variant	-	NC_000015.10:g.55546147T>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Gly380Asp	rs888474961	missense variant	-	NC_000015.10:g.55546144C>T	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly380Val	rs888474961	missense variant	-	NC_000015.10:g.55546144C>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Leu381Ile	rs756663494	missense variant	-	NC_000015.10:g.55546142G>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Leu381Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546142G>C	NCI-TCGA
PYGO1	Q9Y3Y4	p.Thr383Ile	rs1201556224	missense variant	-	NC_000015.10:g.55546135G>A	gnomAD
PYGO1	Q9Y3Y4	p.Glu385Gln	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546130C>G	NCI-TCGA
PYGO1	Q9Y3Y4	p.Ser387Cys	rs759805813	missense variant	-	NC_000015.10:g.55546123G>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ser387Phe	rs759805813	missense variant	-	NC_000015.10:g.55546123G>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Val389Leu	rs766608357	missense variant	-	NC_000015.10:g.55546118C>A	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Trp390Arg	rs1222929357	missense variant	-	NC_000015.10:g.55546115A>G	gnomAD
PYGO1	Q9Y3Y4	p.Gly391Asp	rs1442470969	missense variant	-	NC_000015.10:g.55546111C>T	TOPMed
PYGO1	Q9Y3Y4	p.Cys392Trp	rs1324406969	missense variant	-	NC_000015.10:g.55546107A>C	gnomAD
PYGO1	Q9Y3Y4	p.Asp393Gly	rs768631794	missense variant	-	NC_000015.10:g.55546105T>C	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Asp393Val	rs768631794	missense variant	-	NC_000015.10:g.55546105T>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Thr394Asn	rs746899332	missense variant	-	NC_000015.10:g.55546102G>T	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Ala397Gly	rs1361678317	missense variant	-	NC_000015.10:g.55546093G>C	gnomAD
PYGO1	Q9Y3Y4	p.Ala397Thr	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546094C>T	NCI-TCGA
PYGO1	Q9Y3Y4	p.Asp398Val	NCI-TCGA novel	missense variant	-	NC_000015.10:g.55546090T>A	NCI-TCGA
PYGO1	Q9Y3Y4	p.Lys399Glu	rs1435467831	missense variant	-	NC_000015.10:g.55546088T>C	gnomAD
PYGO1	Q9Y3Y4	p.Lys399Arg	rs1167877249	missense variant	-	NC_000015.10:g.55546087T>C	TOPMed
PYGO1	Q9Y3Y4	p.Val401Ala	rs1268641048	missense variant	-	NC_000015.10:g.55546081A>G	gnomAD
PYGO1	Q9Y3Y4	p.Gln402His	rs1390327873	missense variant	-	NC_000015.10:g.55546077C>A	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gln402His	rs1390327873	missense variant	-	NC_000015.10:g.55546077C>G	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Leu403Val	rs1173857105	missense variant	-	NC_000015.10:g.55546076A>C	gnomAD
PYGO1	Q9Y3Y4	p.Met404Thr	rs771420789	missense variant	-	NC_000015.10:g.55546072A>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Arg405His	rs146333956	missense variant	-	NC_000015.10:g.55546069C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg405Cys	rs564470411	missense variant	-	NC_000015.10:g.55546070G>A	1000Genomes,ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Arg405Cys	rs564470411	missense variant	-	NC_000015.10:g.55546070G>A	NCI-TCGA,NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Thr406Ala	COSM4055769	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.55546067T>C	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Glu408Ter	COSM963068	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.55546061C>A	NCI-TCGA Cosmic
PYGO1	Q9Y3Y4	p.Glu408Ala	rs749716684	missense variant	-	NC_000015.10:g.55546060T>G	ExAC,gnomAD
PYGO1	Q9Y3Y4	p.Thr409Asn	rs930090561	missense variant	-	NC_000015.10:g.55546057G>T	TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Phe410Ser	rs952820470	missense variant	-	NC_000015.10:g.55546054A>G	gnomAD
PYGO1	Q9Y3Y4	p.Gly411Val	rs778231257	missense variant	-	NC_000015.10:g.55546051C>A	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Gly411Asp	rs778231257	missense variant	-	NC_000015.10:g.55546051C>T	ExAC,TOPMed,gnomAD
PYGO1	Q9Y3Y4	p.Ala414Val	rs1040577428	missense variant	-	NC_000015.10:g.55546042G>A	TOPMed
PYGO1	Q9Y3Y4	p.Val415Gly	rs376253265	missense variant	-	NC_000015.10:g.55546039A>C	ESP,TOPMed
PYGO1	Q9Y3Y4	p.Gly416Cys	rs1225868090	missense variant	-	NC_000015.10:g.55546037C>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Ala2Thr	rs750415957	missense variant	-	NC_000023.11:g.80022273G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Leu3Val	NCI-TCGA novel	missense variant	-	chrX:g.80022276C>G	NCI-TCGA
TBX22	Q9Y458	p.Ser4Asn	rs755916335	missense variant	-	NC_000023.11:g.80022280G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser5Tyr	rs766283070	missense variant	-	NC_000023.11:g.80022283C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg6Trp	COSM1125767	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022285C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Arg6Pro	rs551664098	missense variant	-	NC_000023.11:g.80022286G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Arg6Leu	rs551664098	missense variant	-	NC_000023.11:g.80022286G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ala7Ser	NCI-TCGA novel	missense variant	-	chrX:g.80022288G>T	NCI-TCGA
TBX22	Q9Y458	p.Ala7Val	COSM5064903	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022289C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Arg8Cys	rs1450772358	missense variant	-	NC_000023.11:g.80022291C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg8Leu	rs915850492	missense variant	-	NC_000023.11:g.80022292G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Phe10Ser	rs1300365859	missense variant	-	NC_000023.11:g.80022298T>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser11Thr	rs150098741	missense variant	-	NC_000023.11:g.80022300T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser11Cys	rs1476956919	missense variant	-	NC_000023.11:g.80022301C>G	gnomAD
TBX22	Q9Y458	p.Ala14Thr	NCI-TCGA novel	missense variant	-	chrX:g.80022309G>A	NCI-TCGA
TBX22	Q9Y458	p.Val16Ala	VAR_036066	Missense	-	-	UniProt
TBX22	Q9Y458	p.Gly17Trp	rs1193056525	missense variant	-	NC_000023.11:g.80022318G>T	gnomAD
TBX22	Q9Y458	p.Gly17Glu	rs748304646	missense variant	-	NC_000023.11:g.80022319G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg18Ile	rs1395804892	missense variant	-	NC_000023.11:g.80022322G>T	gnomAD
TBX22	Q9Y458	p.Pro19His	rs758506603	missense variant	-	NC_000023.11:g.80022325C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro19His	rs758506603	missense variant	-	chrX:g.80022325C>A	NCI-TCGA,NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser20Ile	rs778207010	missense variant	-	NC_000023.11:g.80022328G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Lys21Gln	COSM1469568	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022330A>C	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Lys21Glu	COSM3424978	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022330A>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Gln25Glu	rs771215994	missense variant	-	NC_000023.11:g.80022342C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asp26His	rs781665863	missense variant	-	NC_000023.11:g.80022345G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Pro27Thr	COSM6119715	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022348C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ile28Met	rs148838409	missense variant	-	NC_000023.11:g.80022353A>G	ESP,ExAC
TBX22	Q9Y458	p.Ala30Glu	rs768403428	missense variant	-	NC_000023.11:g.80022358C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala30Val	NCI-TCGA novel	missense variant	-	chrX:g.80022358C>T	NCI-TCGA
TBX22	Q9Y458	p.Ala30Val	rs768403428	missense variant	-	NC_000023.11:g.80022358C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu31Gln	rs761364666	missense variant	-	NC_000023.11:g.80022360G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu35Gln	rs771728632	missense variant	-	NC_000023.11:g.80022373T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg36Trp	rs917472096	missense variant	-	NC_000023.11:g.80022375C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg36Gln	rs1223023604	missense variant	-	NC_000023.11:g.80022376G>A	gnomAD
TBX22	Q9Y458	p.Arg36Trp	COSM4111252	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022375C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Glu37Lys	rs371055319	missense variant	-	NC_000023.11:g.80022378G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Lys39Met	rs753716446	missense variant	-	NC_000023.11:g.80022385A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Lys39ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.80022381A>-	NCI-TCGA
TBX22	Q9Y458	p.Gly41Arg	NCI-TCGA novel	missense variant	-	chrX:g.80022390G>A	NCI-TCGA
TBX22	Q9Y458	p.Gly41Val	NCI-TCGA novel	missense variant	-	chrX:g.80022391G>T	NCI-TCGA
TBX22	Q9Y458	p.Glu42Lys	rs759649828	missense variant	-	NC_000023.11:g.80022393G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu42Asp	NCI-TCGA novel	missense variant	-	chrX:g.80022395G>T	NCI-TCGA
TBX22	Q9Y458	p.Glu43Lys	rs1381212092	missense variant	-	NC_000023.11:g.80022396G>A	TOPMed
TBX22	Q9Y458	p.Glu44Lys	COSM3845453	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80022399G>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Glu45Gly	rs1445755500	missense variant	-	NC_000023.11:g.80022403A>G	gnomAD
TBX22	Q9Y458	p.Glu45Lys	rs950279249	missense variant	-	NC_000023.11:g.80022402G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu46Asp	rs765461432	missense variant	-	NC_000023.11:g.80022407G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Arg48Ser	rs1378785446	missense variant	-	NC_000023.11:g.80022413G>C	gnomAD
TBX22	Q9Y458	p.Ser49Arg	rs752888029	missense variant	-	NC_000023.11:g.80022414A>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser49Thr	rs758412350	missense variant	-	NC_000023.11:g.80022415G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ser50Arg	NCI-TCGA novel	missense variant	-	chrX:g.80022419C>A	NCI-TCGA
TBX22	Q9Y458	p.Ser50Asn	rs1361763002	missense variant	-	NC_000023.11:g.80022418G>A	TOPMed
TBX22	Q9Y458	p.Ala51Thr	VAR_036067	Missense	-	-	UniProt
TBX22	Q9Y458	p.Ala52Ser	rs1385199095	missense variant	-	NC_000023.11:g.80022423G>T	gnomAD
TBX22	Q9Y458	p.Gly53Glu	rs1331608078	missense variant	-	NC_000023.11:g.80022427G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly53Ala	rs1331608078	missense variant	-	NC_000023.11:g.80022427G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser55Ile	rs1339818189	missense variant	-	NC_000023.11:g.80022433G>T	gnomAD
TBX22	Q9Y458	p.Ser55Arg	rs757815223	missense variant	-	NC_000023.11:g.80022434C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Ser55Arg	NCI-TCGA novel	missense variant	-	chrX:g.80022434C>A	NCI-TCGA
TBX22	Q9Y458	p.Glu56Asp	rs1351169817	missense variant	-	NC_000023.11:g.80022437G>T	gnomAD
TBX22	Q9Y458	p.Glu56Asp	NCI-TCGA novel	missense variant	-	chrX:g.80022437G>T	NCI-TCGA
TBX22	Q9Y458	p.Glu56Lys	NCI-TCGA novel	missense variant	-	chrX:g.80022435G>A	NCI-TCGA
TBX22	Q9Y458	p.Glu56Ter	rs104894945	stop gained	-	NC_000023.11:g.80022435G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu56Asp	rs1351169817	missense variant	-	NC_000023.11:g.80022437G>C	gnomAD
TBX22	Q9Y458	p.Glu56Gln	rs104894945	missense variant	-	NC_000023.11:g.80022435G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu56Ter	RCV000012086	nonsense	Cleft palate with ankyloglossia	NC_000023.11:g.80022435G>T	ClinVar
TBX22	Q9Y458	p.Pro57Arg	rs770084170	missense variant	-	NC_000023.11:g.80022439C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Pro57Leu	rs770084170	missense variant	-	NC_000023.11:g.80022439C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Pro57Ser	rs781388378	missense variant	-	NC_000023.11:g.80022438C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro57Thr	rs781388378	missense variant	-	NC_000023.11:g.80022438C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu58Phe	rs778577936	missense variant	-	NC_000023.11:g.80022441C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Glu59Lys	rs747809017	missense variant	-	NC_000023.11:g.80022444G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gln61Lys	rs1328828965	missense variant	-	NC_000023.11:g.80023065C>A	TOPMed
TBX22	Q9Y458	p.Pro62Thr	NCI-TCGA novel	missense variant	-	chrX:g.80023068C>A	NCI-TCGA
TBX22	Q9Y458	p.Pro62Arg	rs1402938365	missense variant	-	NC_000023.11:g.80023069C>G	TOPMed
TBX22	Q9Y458	p.Thr64Ala	rs376071635	missense variant	-	NC_000023.11:g.80023074A>G	ESP,ExAC,gnomAD
TBX22	Q9Y458	p.Thr68Ile	rs1355613525	missense variant	-	NC_000023.11:g.80023087C>T	gnomAD
TBX22	Q9Y458	p.Ser69Pro	rs758173485	missense variant	-	NC_000023.11:g.80023089T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ser69Phe	COSM3845454	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023090C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ala70Val	rs777388281	missense variant	-	NC_000023.11:g.80023093C>T	ExAC
TBX22	Q9Y458	p.Ser71Tyr	NCI-TCGA novel	missense variant	-	chrX:g.80023096C>A	NCI-TCGA
TBX22	Q9Y458	p.Ser72Phe	rs1171603763	missense variant	-	NC_000023.11:g.80023099C>T	TOPMed
TBX22	Q9Y458	p.Gly73Asp	rs1461373694	missense variant	-	NC_000023.11:g.80023102G>A	gnomAD
TBX22	Q9Y458	p.Cys74Arg	rs1298540656	missense variant	-	NC_000023.11:g.80023104T>C	gnomAD
TBX22	Q9Y458	p.Asp77Asn	rs1423081813	missense variant	-	NC_000023.11:g.80023113G>A	TOPMed
TBX22	Q9Y458	p.Asp77Asn	COSM5576177	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023113G>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser78Asn	rs369384425	missense variant	-	NC_000023.11:g.80023117G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly79Ser	NCI-TCGA novel	missense variant	-	chrX:g.80023119G>A	NCI-TCGA
TBX22	Q9Y458	p.Tyr80Asn	rs776576140	missense variant	-	NC_000023.11:g.80023122T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly81Ser	rs769623927	missense variant	-	chrX:g.80023125G>A	NCI-TCGA
TBX22	Q9Y458	p.Gly81Arg	rs769623927	missense variant	-	NC_000023.11:g.80023125G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly81Ser	rs769623927	missense variant	-	NC_000023.11:g.80023125G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser83Cys	rs1205788287	missense variant	-	NC_000023.11:g.80023131A>T	gnomAD
TBX22	Q9Y458	p.Ser83Arg	NCI-TCGA novel	missense variant	-	chrX:g.80023133C>G	NCI-TCGA
TBX22	Q9Y458	p.Ser84Cys	rs1487737018	missense variant	-	NC_000023.11:g.80023135C>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu88Gln	NCI-TCGA novel	missense variant	-	chrX:g.80023146G>C	NCI-TCGA
TBX22	Q9Y458	p.Asp91Val	rs1456246678	missense variant	-	NC_000023.11:g.80023156A>T	TOPMed
TBX22	Q9Y458	p.Asp91Asn	rs764339429	missense variant	-	NC_000023.11:g.80023155G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Asp91Tyr	rs764339429	missense variant	-	NC_000023.11:g.80023155G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp91GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.80023153_80023154insAC	NCI-TCGA
TBX22	Q9Y458	p.Ile92Thr	rs774586316	missense variant	-	NC_000023.11:g.80023159T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ile92CysPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.80023155_80023156insACTGCAAAGCTAGTTATGAGATAATGCA	NCI-TCGA
TBX22	Q9Y458	p.Met94Val	rs1480550016	missense variant	-	NC_000023.11:g.80023164A>G	gnomAD
TBX22	Q9Y458	p.Glu95Asp	rs1016944586	missense variant	-	NC_000023.11:g.80023169G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly98Val	rs1296394114	missense variant	-	NC_000023.11:g.80023177G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly98Glu	rs1296394114	missense variant	-	NC_000023.11:g.80023177G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly98Val	NCI-TCGA novel	missense variant	-	chrX:g.80023177G>T	NCI-TCGA
TBX22	Q9Y458	p.Leu101Met	COSM613756	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023185C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Leu101Met	rs1367758632	missense variant	-	NC_000023.11:g.80023185C>A	TOPMed
TBX22	Q9Y458	p.Leu101Gln	rs137989876	missense variant	-	NC_000023.11:g.80023186T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Lys103Asn	COSM1125769	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023193A>C	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Arg104Ile	COSM1125770	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023195G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Asp107Gly	rs377085198	missense variant	-	NC_000023.11:g.80023204A>G	ESP,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp107Gly	rs377085198	missense variant	-	chrX:g.80023204A>G	NCI-TCGA,NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ile108Thr	NCI-TCGA novel	missense variant	-	chrX:g.80023207T>C	NCI-TCGA
TBX22	Q9Y458	p.Gly109Ala	COSM757424	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023210G>C	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Gly109Arg	rs1379493336	missense variant	-	NC_000023.11:g.80023209G>A	TOPMed
TBX22	Q9Y458	p.Met112Ile	COSM1491297	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80023220G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ile113Met	rs1456235873	missense variant	-	NC_000023.11:g.80023223C>G	gnomAD
TBX22	Q9Y458	p.Ala117Pro	rs369779825	missense variant	-	NC_000023.11:g.80023233G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala117Thr	rs369779825	missense variant	-	NC_000023.11:g.80023233G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala117Thr	rs369779825	missense variant	-	chrX:g.80023233G>A	NCI-TCGA
TBX22	Q9Y458	p.Gly118Cys	rs104894944	missense variant	-	NC_000023.11:g.80023236G>T	-
TBX22	Q9Y458	p.Gly118Cys	rs104894944	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt,dbSNP
TBX22	Q9Y458	p.Gly118Cys	VAR_015383	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt
TBX22	Q9Y458	p.Gly118Cys	RCV000012083	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80023236G>T	ClinVar
TBX22	Q9Y458	p.Arg119Trp	NCI-TCGA novel	missense variant	-	chrX:g.80023239A>T	NCI-TCGA
TBX22	Q9Y458	p.Arg120Gly	rs1162711332	missense variant	-	NC_000023.11:g.80024064C>G	gnomAD
TBX22	Q9Y458	p.Arg120Gln	rs1385589233	missense variant	-	NC_000023.11:g.80024065G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg120Trp	COSM3097725	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024064C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Met121Val	VAR_021831	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Ser124Phe	COSM4856241	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024077C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Val125Ile	rs761944554	missense variant	-	NC_000023.11:g.80024079G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Val125Ile	rs761944554	missense variant	-	chrX:g.80024079G>A	NCI-TCGA
TBX22	Q9Y458	p.Arg126Gln	rs201456134	missense variant	-	chrX:g.80024083G>A	NCI-TCGA
TBX22	Q9Y458	p.Arg126Trp	rs145161769	missense variant	-	chrX:g.80024082C>T	NCI-TCGA,NCI-TCGA Cosmic
TBX22	Q9Y458	p.Arg126Leu	NCI-TCGA novel	missense variant	-	chrX:g.80024083G>T	NCI-TCGA
TBX22	Q9Y458	p.Arg126Gln	rs201456134	missense variant	-	NC_000023.11:g.80024083G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Lys128Asn	rs773214100	missense variant	-	NC_000023.11:g.80024090G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Lys130Glu	NCI-TCGA novel	missense variant	-	chrX:g.80024094A>G	NCI-TCGA
TBX22	Q9Y458	p.Gly131Val	rs1431655517	missense variant	-	NC_000023.11:g.80024098G>T	gnomAD
TBX22	Q9Y458	p.Gly131Trp	NCI-TCGA novel	missense variant	-	chrX:g.80024097G>T	NCI-TCGA
TBX22	Q9Y458	p.Gly131Val	NCI-TCGA novel	missense variant	-	chrX:g.80024098G>T	NCI-TCGA
TBX22	Q9Y458	p.Pro134Thr	rs766953495	missense variant	-	NC_000023.11:g.80024106C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Pro134Ser	rs766953495	missense variant	-	NC_000023.11:g.80024106C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Gly135Trp	NCI-TCGA novel	missense variant	-	chrX:g.80024109G>T	NCI-TCGA
TBX22	Q9Y458	p.Tyr138Cys	COSM4111255	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024119A>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Tyr138His	rs759370678	missense variant	-	NC_000023.11:g.80024118T>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.His139Tyr	rs765704978	missense variant	-	NC_000023.11:g.80024121C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val140Leu	rs751216592	missense variant	-	NC_000023.11:g.80024124G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp143Asn	rs1403650886	missense variant	-	NC_000023.11:g.80024133G>A	TOPMed
TBX22	Q9Y458	p.Val145Met	rs1215959489	missense variant	-	NC_000023.11:g.80024139G>A	gnomAD
TBX22	Q9Y458	p.Pro146Arg	rs756913403	missense variant	-	NC_000023.11:g.80024143C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro146Ser	NCI-TCGA novel	missense variant	-	chrX:g.80024142C>T	NCI-TCGA
TBX22	Q9Y458	p.Pro146Leu	rs756913403	missense variant	-	NC_000023.11:g.80024143C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro146Leu	rs756913403	missense variant	-	chrX:g.80024143C>T	NCI-TCGA
TBX22	Q9Y458	p.Val147Met	rs1182860071	missense variant	-	NC_000023.11:g.80024145G>A	gnomAD
TBX22	Q9Y458	p.Ser149Phe	rs1446264071	missense variant	-	NC_000023.11:g.80024152C>T	gnomAD
TBX22	Q9Y458	p.Lys150Gln	rs1156605251	missense variant	-	NC_000023.11:g.80024154A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Lys150Gln	RCV000626748	missense variant	Cleft palate	NC_000023.11:g.80024154A>C	ClinVar
TBX22	Q9Y458	p.Arg151Leu	rs368136178	missense variant	-	NC_000023.11:g.80024158G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151Cys	rs1407601790	missense variant	-	NC_000023.11:g.80024157C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151His	COSM6051274	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024158G>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Arg151Cys	COSM1491298	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80024157C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Arg151His	rs368136178	missense variant	-	NC_000023.11:g.80024158G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val155Leu	COSM758322	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025607G>C	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Val155Phe	COSM6188035	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025607G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Val155Ile	rs1470650923	missense variant	-	NC_000023.11:g.80025607G>A	gnomAD
TBX22	Q9Y458	p.Val155Ala	rs1343056432	missense variant	-	NC_000023.11:g.80025608T>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr156Asn	NCI-TCGA novel	missense variant	-	chrX:g.80025610T>A	NCI-TCGA
TBX22	Q9Y458	p.Tyr156Cys	rs1423305487	missense variant	-	NC_000023.11:g.80025611A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.His157Tyr	rs760190777	missense variant	-	NC_000023.11:g.80025613C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ser158Gly	COSM1125771	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025616A>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser158Arg	rs1177244637	missense variant	-	NC_000023.11:g.80025616A>C	gnomAD
TBX22	Q9Y458	p.Gln160Arg	rs1185725124	missense variant	-	NC_000023.11:g.80025623A>G	TOPMed
TBX22	Q9Y458	p.Met162Val	NCI-TCGA novel	missense variant	-	chrX:g.80025628A>G	NCI-TCGA
TBX22	Q9Y458	p.Val163Ala	rs765680258	missense variant	-	NC_000023.11:g.80025632T>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr167Arg	rs1328608615	missense variant	-	NC_000023.11:g.80025644C>G	gnomAD
TBX22	Q9Y458	p.His169Gln	rs1336674612	missense variant	-	NC_000023.11:g.80025651T>A	gnomAD
TBX22	Q9Y458	p.Leu170Phe	rs761492404	missense variant	-	NC_000023.11:g.80025654G>T	ExAC
TBX22	Q9Y458	p.Cys171Tyr	rs767034098	missense variant	-	NC_000023.11:g.80025656G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ile172Leu	rs963408036	missense variant	-	NC_000023.11:g.80025658A>C	TOPMed
TBX22	Q9Y458	p.Ile172Asn	NCI-TCGA novel	missense variant	-	chrX:g.80025659T>A	NCI-TCGA
TBX22	Q9Y458	p.Phe176Leu	rs755501455	missense variant	-	NC_000023.11:g.80025670T>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Tyr177Cys	NCI-TCGA novel	missense variant	-	chrX:g.80025674A>G	NCI-TCGA
TBX22	Q9Y458	p.Tyr177His	rs1222428638	missense variant	-	NC_000023.11:g.80025673T>C	gnomAD
TBX22	Q9Y458	p.Val178Ala	rs1193114601	missense variant	-	NC_000023.11:g.80025677T>C	TOPMed
TBX22	Q9Y458	p.His179Leu	NCI-TCGA novel	missense variant	-	chrX:g.80025680A>T	NCI-TCGA
TBX22	Q9Y458	p.Pro180Leu	rs779543847	missense variant	-	NC_000023.11:g.80025683C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro183Thr	rs778648477	missense variant	-	NC_000023.11:g.80025691C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Pro183Leu	VAR_021832	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Cys184Ser	NCI-TCGA novel	missense variant	-	chrX:g.80025695G>C	NCI-TCGA
TBX22	Q9Y458	p.Cys184Phe	COSM150798	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025695G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser185Leu	rs765734398	missense variant	-	NC_000023.11:g.80025698C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser185Leu	RCV000302811	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025698C>T	ClinVar
TBX22	Q9Y458	p.Gly186Glu	NCI-TCGA novel	missense variant	-	chrX:g.80025701G>A	NCI-TCGA
TBX22	Q9Y458	p.Glu187Lys	rs34244923	missense variant	-	NC_000023.11:g.80025703G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu187Lys	RCV000364607	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025703G>A	ClinVar
TBX22	Q9Y458	p.Thr188Ser	rs1431456050	missense variant	-	NC_000023.11:g.80025706A>T	gnomAD
TBX22	Q9Y458	p.Arg191Gln	rs747262805	missense variant	-	NC_000023.11:g.80025716G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg191Trp	COSM1125772	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025715C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Arg191Leu	rs747262805	missense variant	-	NC_000023.11:g.80025716G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg191Trp	rs993952750	missense variant	-	NC_000023.11:g.80025715C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser195insSerSer	VAR_069900	duplication	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Asp197Gly	rs1398927099	missense variant	-	NC_000023.11:g.80025734A>G	TOPMed
TBX22	Q9Y458	p.Arg198Leu	rs200542790	missense variant	-	NC_000023.11:g.80025737G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg198His	rs200542790	missense variant	-	NC_000023.11:g.80025737G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg198Cys	COSM3563653	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025736C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Arg198Ser	rs776905471	missense variant	-	chrX:g.80025736C>A	NCI-TCGA
TBX22	Q9Y458	p.Arg198Ser	rs776905471	missense variant	-	NC_000023.11:g.80025736C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Met199Ile	rs1403879065	missense variant	-	NC_000023.11:g.80025741G>A	gnomAD
TBX22	Q9Y458	p.Met199Val	rs770461385	missense variant	-	NC_000023.11:g.80025739A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Leu201Ile	COSM72928	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025745C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Leu201Val	COSM3406616	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025745C>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Asn203Ser	rs776093447	missense variant	-	NC_000023.11:g.80025752A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asp207Val	rs763177430	missense variant	-	NC_000023.11:g.80025764A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp207Asn	COSM1469569	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80025763G>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Asp208Gly	rs1224588185	missense variant	-	NC_000023.11:g.80025767A>G	gnomAD
TBX22	Q9Y458	p.Gly210Ser	rs764530704	missense variant	-	NC_000023.11:g.80025772G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly210Asp	rs772672988	missense variant	-	NC_000023.11:g.80025773G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly210Ala	rs772672988	missense variant	-	NC_000023.11:g.80025773G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Leu214Pro	rs104894946	missense variant	-	NC_000023.11:g.80026711T>C	-
TBX22	Q9Y458	p.Leu214Pro	rs104894946	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt,dbSNP
TBX22	Q9Y458	p.Leu214Pro	VAR_021829	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt
TBX22	Q9Y458	p.Leu214Pro	RCV000012087	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026711T>C	ClinVar
TBX22	Q9Y458	p.Gln215His	rs747225015	missense variant	-	NC_000023.11:g.80026715A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Met217Ile	NCI-TCGA novel	missense variant	-	chrX:g.80026721G>C	NCI-TCGA
TBX22	Q9Y458	p.Met217Ile	COSM364855	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026721G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Met217Val	COSM458121	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026719A>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.His218Asn	rs757598908	missense variant	-	NC_000023.11:g.80026722C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr220Asp	rs1449258747	missense variant	-	NC_000023.11:g.80026728T>G	gnomAD
TBX22	Q9Y458	p.Pro222Thr	rs781385178	missense variant	-	NC_000023.11:g.80026734C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Pro222His	COSM758320	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026735C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Pro222Leu	COSM4504460	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026735C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Arg223Ter	NCI-TCGA novel	stop gained	-	chrX:g.80026737C>T	NCI-TCGA
TBX22	Q9Y458	p.Val224Met	rs1445663868	missense variant	-	NC_000023.11:g.80026740G>A	gnomAD
TBX22	Q9Y458	p.Val224Leu	NCI-TCGA novel	missense variant	-	chrX:g.80026740G>T	NCI-TCGA
TBX22	Q9Y458	p.His225Tyr	rs141355013	missense variant	-	NC_000023.11:g.80026743C>T	ESP,TOPMed,gnomAD
TBX22	Q9Y458	p.Val226Met	rs775801815	missense variant	-	NC_000023.11:g.80026746G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val226Met	rs775801815	missense variant	-	chrX:g.80026746G>A	NCI-TCGA
TBX22	Q9Y458	p.Glu228Lys	rs368794829	missense variant	-	NC_000023.11:g.80026752G>A	ESP,TOPMed
TBX22	Q9Y458	p.Gly230Asp	rs749803887	missense variant	-	NC_000023.11:g.80026759G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser232Asn	rs1298302616	missense variant	-	NC_000023.11:g.80026765G>A	TOPMed
TBX22	Q9Y458	p.Val233Ile	rs370372482	missense variant	-	NC_000023.11:g.80026767G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp234Glu	rs774836026	missense variant	-	NC_000023.11:g.80026772C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp234His	NCI-TCGA novel	missense variant	-	chrX:g.80026770G>C	NCI-TCGA
TBX22	Q9Y458	p.Leu235Gln	NCI-TCGA novel	missense variant	-	chrX:g.80026774T>A	NCI-TCGA
TBX22	Q9Y458	p.Ser236Phe	rs1305092063	missense variant	-	NC_000023.11:g.80026777C>T	TOPMed
TBX22	Q9Y458	p.Gln237Pro	rs992907062	missense variant	-	NC_000023.11:g.80026780A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Gln239Glu	COSM6119713	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80026785C>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Pro242Thr	rs765976780	missense variant	-	NC_000023.11:g.80026794C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Thr243Ala	rs1316821118	missense variant	-	NC_000023.11:g.80026797A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Thr243Ser	rs1316821118	missense variant	-	NC_000023.11:g.80026797A>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly245Asp	rs1238545711	missense variant	-	NC_000023.11:g.80026804G>A	gnomAD
TBX22	Q9Y458	p.Phe249Tyr	VAR_069416	Missense	-	-	UniProt
TBX22	Q9Y458	p.Glu255Ter	NCI-TCGA novel	stop gained	-	chrX:g.80026833G>T	NCI-TCGA
TBX22	Q9Y458	p.Glu255Gly	rs758990043	missense variant	-	NC_000023.11:g.80026834A>G	ExAC
TBX22	Q9Y458	p.Thr257Ser	rs764811230	missense variant	-	NC_000023.11:g.80026840C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Thr257Ile	rs764811230	missense variant	-	NC_000023.11:g.80026840C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr258Ile	rs758424012	missense variant	-	NC_000023.11:g.80026843C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr260Met	rs104894943	missense variant	-	NC_000023.11:g.80026849C>T	-
TBX22	Q9Y458	p.Thr260Met	rs104894943	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt,dbSNP
TBX22	Q9Y458	p.Thr260Met	VAR_015384	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt
TBX22	Q9Y458	p.Thr260Met	rs104894943	missense variant	-	chrX:g.80026849C>T	NCI-TCGA,NCI-TCGA Cosmic
TBX22	Q9Y458	p.Thr260Met	RCV000012082	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026849C>T	ClinVar
TBX22	Q9Y458	p.Ala261AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.80026849_80026850insTGATA	NCI-TCGA
TBX22	Q9Y458	p.Asn264Tyr	rs28935177	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt,dbSNP
TBX22	Q9Y458	p.Asn264Tyr	VAR_021830	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt
TBX22	Q9Y458	p.Asn264Tyr	rs28935177	missense variant	-	NC_000023.11:g.80026860A>T	-
TBX22	Q9Y458	p.Asn264Tyr	RCV000012089	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026860A>T	ClinVar
TBX22	Q9Y458	p.Gln266Pro	NCI-TCGA novel	missense variant	-	chrX:g.80026867A>C	NCI-TCGA
TBX22	Q9Y458	p.Ile267Phe	rs759255355	missense variant	-	NC_000023.11:g.80027256A>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ile267Asn	NCI-TCGA novel	missense variant	-	chrX:g.80027257T>A	NCI-TCGA
TBX22	Q9Y458	p.Ile267Val	rs759255355	missense variant	-	NC_000023.11:g.80027256A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Met	rs769176901	missense variant	-	NC_000023.11:g.80027260C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Lys	rs769176901	missense variant	-	NC_000023.11:g.80027260C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Met	rs769176901	missense variant	-	chrX:g.80027260C>T	NCI-TCGA,NCI-TCGA Cosmic
TBX22	Q9Y458	p.Thr268Arg	rs769176901	missense variant	-	NC_000023.11:g.80027260C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu273Gly	rs1206744172	missense variant	-	NC_000023.11:g.80027275A>G	TOPMed
TBX22	Q9Y458	p.Arg274Ile	COSM1125775	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027278G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Pro276His	COSM1125776	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027284C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Pro276Ser	COSM224126	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027283C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Pro276Ala	COSM758318	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027283C>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Pro276Thr	rs764049245	missense variant	-	NC_000023.11:g.80027283C>A	ExAC
TBX22	Q9Y458	p.Ala278Pro	NCI-TCGA novel	missense variant	-	chrX:g.80027289G>C	NCI-TCGA
TBX22	Q9Y458	p.Lys279Glu	rs1480540426	missense variant	-	NC_000023.11:g.80027292A>G	gnomAD
TBX22	Q9Y458	p.Gly280AspPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.80027292A>-	NCI-TCGA
TBX22	Q9Y458	p.Arg282Lys	COSM4401078	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80027302G>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Asp283Tyr	rs1304491827	missense variant	-	NC_000023.11:g.80027304G>T	gnomAD
TBX22	Q9Y458	p.Thr284Asn	NCI-TCGA novel	missense variant	-	chrX:g.80027308C>A	NCI-TCGA
TBX22	Q9Y458	p.Gly285Arg	NCI-TCGA novel	missense variant	-	chrX:g.80027310G>A	NCI-TCGA
TBX22	Q9Y458	p.Arg288Met	rs767423228	missense variant	-	NC_000023.11:g.80027320G>T	ExAC
TBX22	Q9Y458	p.Arg288Gly	NCI-TCGA novel	missense variant	-	chrX:g.80027319A>G	NCI-TCGA
TBX22	Q9Y458	p.Gly289Val	rs1253379406	missense variant	-	NC_000023.11:g.80027993G>T	gnomAD
TBX22	Q9Y458	p.Gly289Asp	NCI-TCGA novel	missense variant	-	chrX:g.80027993G>A	NCI-TCGA
TBX22	Q9Y458	p.Val290Ala	NCI-TCGA novel	missense variant	-	chrX:g.80027996T>C	NCI-TCGA
TBX22	Q9Y458	p.Leu291Phe	rs762472993	missense variant	-	NC_000023.11:g.80028000G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Gly293Arg	rs960682849	missense variant	-	NC_000023.11:g.80028004G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Leu295Phe	rs1428441084	missense variant	-	NC_000023.11:g.80028012A>C	TOPMed
TBX22	Q9Y458	p.Glu296Lys	NCI-TCGA novel	missense variant	-	chrX:g.80028013G>A	NCI-TCGA
TBX22	Q9Y458	p.Glu296Ter	NCI-TCGA novel	stop gained	-	chrX:g.80028013G>T	NCI-TCGA
TBX22	Q9Y458	p.Glu296Asp	NCI-TCGA novel	missense variant	-	chrX:g.80028015G>T	NCI-TCGA
TBX22	Q9Y458	p.Thr297Asn	NCI-TCGA novel	missense variant	-	chrX:g.80028017C>A	NCI-TCGA
TBX22	Q9Y458	p.Pro299Ser	rs1259647651	missense variant	-	NC_000023.11:g.80028022C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro299HisPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.80028021C>-	NCI-TCGA
TBX22	Q9Y458	p.Trp300Leu	NCI-TCGA novel	missense variant	-	chrX:g.80028026G>T	NCI-TCGA
TBX22	Q9Y458	p.Trp300Ter	rs1555993323	stop gained	-	NC_000023.11:g.80028026G>A	-
TBX22	Q9Y458	p.Trp300Arg	rs371749262	missense variant	-	NC_000023.11:g.80028025T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Trp300Ter	RCV000523410	nonsense	-	NC_000023.11:g.80028026G>A	ClinVar
TBX22	Q9Y458	p.Phe304Leu	COSM3723815	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80028037T>C	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Thr305Ile	COSM3800777	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80028041C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Leu306Ile	rs1490265878	missense variant	-	NC_000023.11:g.80028043C>A	gnomAD
TBX22	Q9Y458	p.Asp307Asn	rs750292974	missense variant	-	chrX:g.80028046G>A	NCI-TCGA,NCI-TCGA Cosmic
TBX22	Q9Y458	p.Asp307Asn	rs750292974	missense variant	-	NC_000023.11:g.80028046G>A	UniProt,dbSNP
TBX22	Q9Y458	p.Asp307Asn	VAR_036068	missense variant	-	NC_000023.11:g.80028046G>A	UniProt
TBX22	Q9Y458	p.Asp307Asn	rs750292974	missense variant	-	NC_000023.11:g.80028046G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Phe308LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.80028048T>-	NCI-TCGA
TBX22	Q9Y458	p.Lys309Asn	NCI-TCGA novel	missense variant	-	chrX:g.80028054A>C	NCI-TCGA
TBX22	Q9Y458	p.Lys309Thr	rs990805395	missense variant	-	NC_000023.11:g.80028053A>C	TOPMed
TBX22	Q9Y458	p.Thr310Ile	rs1320848821	missense variant	-	NC_000023.11:g.80028056C>T	TOPMed
TBX22	Q9Y458	p.Ala313Thr	rs527984602	missense variant	-	NC_000023.11:g.80028064G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp314Gly	rs767569061	missense variant	-	NC_000023.11:g.80028068A>G	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly318Arg	rs751915345	missense variant	-	NC_000023.11:g.80030500G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly318Arg	rs751915345	missense variant	-	NC_000023.11:g.80030500G>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly318Val	NCI-TCGA novel	missense variant	-	chrX:g.80030501G>T	NCI-TCGA
TBX22	Q9Y458	p.Ser319Asn	COSM758317	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030504G>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Gly321Asp	rs1029502810	missense variant	-	NC_000023.11:g.80030510G>A	TOPMed
TBX22	Q9Y458	p.Gly321Ser	rs757798692	missense variant	-	NC_000023.11:g.80030509G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser323Thr	rs752017317	missense variant	-	NC_000023.11:g.80030515T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser323Phe	COSM388415	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030516C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Val325Leu	rs781651154	missense variant	-	NC_000023.11:g.80030521G>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Val325Leu	COSM6119712	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030521G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Thr326Ser	rs1052677632	missense variant	-	NC_000023.11:g.80030524A>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly329Arg	rs1459916896	missense variant	-	NC_000023.11:g.80030533G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly329Ter	NCI-TCGA novel	stop gained	-	chrX:g.80030533G>T	NCI-TCGA
TBX22	Q9Y458	p.Pro332Ser	rs1237797145	missense variant	-	NC_000023.11:g.80030542C>T	gnomAD
TBX22	Q9Y458	p.Ser333LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.80030540C>-	NCI-TCGA
TBX22	Q9Y458	p.Ser333Cys	COSM3563655	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030546C>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Pro334His	COSM3563656	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030549C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Leu335Phe	NCI-TCGA novel	missense variant	-	chrX:g.80030553G>T	NCI-TCGA
TBX22	Q9Y458	p.Ser337Thr	rs781474415	missense variant	-	NC_000023.11:g.80030557T>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser337Phe	rs1175746187	missense variant	-	NC_000023.11:g.80030558C>T	gnomAD
TBX22	Q9Y458	p.Leu339Ile	COSM758316	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030563C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Cys343Tyr	COSM1125777	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030576G>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Phe344Leu	rs1407487643	missense variant	-	NC_000023.11:g.80030578T>C	gnomAD
TBX22	Q9Y458	p.Pro346Arg	COSM6188033	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030585C>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Pro346Arg	rs1030946293	missense variant	-	NC_000023.11:g.80030585C>G	gnomAD
TBX22	Q9Y458	p.Pro346Leu	rs1030946293	missense variant	-	NC_000023.11:g.80030585C>T	gnomAD
TBX22	Q9Y458	p.Met347Leu	NCI-TCGA novel	missense variant	-	chrX:g.80030587A>C	NCI-TCGA
TBX22	Q9Y458	p.Met347Val	rs372948739	missense variant	-	NC_000023.11:g.80030587A>G	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu350Phe	rs1469682502	missense variant	-	NC_000023.11:g.80030598A>T	gnomAD
TBX22	Q9Y458	p.Pro351Ser	rs778535394	missense variant	-	NC_000023.11:g.80030599C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr352Ile	rs1470640756	missense variant	-	NC_000023.11:g.80030603C>T	TOPMed
TBX22	Q9Y458	p.Thr352Ala	rs747613335	missense variant	-	NC_000023.11:g.80030602A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Ser353Asn	NCI-TCGA novel	missense variant	-	chrX:g.80030606G>A	NCI-TCGA
TBX22	Q9Y458	p.Leu355Phe	rs1440442525	missense variant	-	NC_000023.11:g.80030611C>T	gnomAD
TBX22	Q9Y458	p.Met357Val	rs374765772	missense variant	-	NC_000023.11:g.80030617A>G	ESP,TOPMed
TBX22	Q9Y458	p.Pro358Thr	rs1277452059	missense variant	-	NC_000023.11:g.80030620C>A	gnomAD
TBX22	Q9Y458	p.Cys359Tyr	NCI-TCGA novel	missense variant	-	chrX:g.80030624G>A	NCI-TCGA
TBX22	Q9Y458	p.Cys359Arg	rs369127582	missense variant	-	NC_000023.11:g.80030623T>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Cys359Ser	rs369127582	missense variant	-	NC_000023.11:g.80030623T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu361Asp	NCI-TCGA novel	missense variant	-	chrX:g.80030631G>T	NCI-TCGA
TBX22	Q9Y458	p.Ala362Ser	NCI-TCGA novel	missense variant	-	chrX:g.80030632G>T	NCI-TCGA
TBX22	Q9Y458	p.Ala362Glu	COSM1331675	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030633C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Tyr363Cys	rs746987550	missense variant	-	NC_000023.11:g.80030636A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr363Ter	NCI-TCGA novel	stop gained	-	chrX:g.80030637C>G	NCI-TCGA
TBX22	Q9Y458	p.Leu364Pro	rs1202905184	missense variant	-	NC_000023.11:g.80030639T>C	gnomAD
TBX22	Q9Y458	p.Leu364Met	NCI-TCGA novel	missense variant	-	chrX:g.80030638C>A	NCI-TCGA
TBX22	Q9Y458	p.Pro365His	rs916621625	missense variant	-	NC_000023.11:g.80030642C>A	TOPMed
TBX22	Q9Y458	p.Asn366Ser	rs769725713	missense variant	-	NC_000023.11:g.80030645A>G	1000Genomes
TBX22	Q9Y458	p.Val367Gly	rs1279217597	missense variant	-	NC_000023.11:g.80030648T>G	gnomAD
TBX22	Q9Y458	p.Val367Ile	NCI-TCGA novel	missense variant	-	chrX:g.80030647G>A	NCI-TCGA
TBX22	Q9Y458	p.Pro370Leu	rs1202172633	missense variant	-	NC_000023.11:g.80030657C>T	gnomAD
TBX22	Q9Y458	p.Pro370Ser	COSM1235195	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030656C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Cys372Arg	rs948170365	missense variant	-	NC_000023.11:g.80030662T>C	TOPMed
TBX22	Q9Y458	p.Cys372Tyr	rs765407594	missense variant	-	NC_000023.11:g.80030663G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr373Cys	rs775706886	missense variant	-	NC_000023.11:g.80030666A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Lys374Asn	COSM1125778	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030670G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Cys376Phe	rs982648449	missense variant	-	NC_000023.11:g.80030675G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro377Thr	NCI-TCGA novel	missense variant	-	chrX:g.80030677C>A	NCI-TCGA
TBX22	Q9Y458	p.Thr378Ser	rs887597789	missense variant	-	NC_000023.11:g.80030680A>T	TOPMed
TBX22	Q9Y458	p.Asn379His	rs1177856114	missense variant	-	NC_000023.11:g.80030683A>C	gnomAD
TBX22	Q9Y458	p.Asn379Ser	COSM758315	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030684A>G	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Asn379Ile	rs762959263	missense variant	-	NC_000023.11:g.80030684A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Phe380Ser	rs764159886	missense variant	-	NC_000023.11:g.80030687T>C	ExAC
TBX22	Q9Y458	p.Trp381Ter	rs1014775367	stop gained	-	NC_000023.11:g.80030691G>A	TOPMed
TBX22	Q9Y458	p.Trp381Cys	rs1014775367	missense variant	-	NC_000023.11:g.80030691G>C	TOPMed
TBX22	Q9Y458	p.Trp381Leu	rs752099645	missense variant	-	NC_000023.11:g.80030690G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gln384Lys	rs1353576298	missense variant	-	NC_000023.11:g.80030698C>A	gnomAD
TBX22	Q9Y458	p.Gln384Lys	NCI-TCGA novel	missense variant	-	chrX:g.80030698C>A	NCI-TCGA
TBX22	Q9Y458	p.Pro385Ser	rs767900601	missense variant	-	NC_000023.11:g.80030701C>T	ExAC
TBX22	Q9Y458	p.Leu388Phe	rs1343152462	missense variant	-	NC_000023.11:g.80030712A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro389Leu	rs756577621	missense variant	-	NC_000023.11:g.80030714C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ala390Asp	rs141303126	missense variant	-	NC_000023.11:g.80030717C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala390Thr	rs189969457	missense variant	-	NC_000023.11:g.80030716G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Pro391His	NCI-TCGA novel	missense variant	-	chrX:g.80030720C>A	NCI-TCGA
TBX22	Q9Y458	p.Arg393Ile	COSM3424979	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030726G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ala395Thr	rs992049559	missense variant	-	NC_000023.11:g.80030731G>A	TOPMed
TBX22	Q9Y458	p.Ser397Arg	rs940977409	missense variant	-	NC_000023.11:g.80030739C>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Asn398Ser	rs1207504606	missense variant	-	NC_000023.11:g.80030741A>G	gnomAD
TBX22	Q9Y458	p.Asn398Tyr	NCI-TCGA novel	missense variant	-	chrX:g.80030740A>T	NCI-TCGA
TBX22	Q9Y458	p.Ser399Thr	NCI-TCGA novel	missense variant	-	chrX:g.80030744G>C	NCI-TCGA
TBX22	Q9Y458	p.Ser399Arg	COSM1125780	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030743A>C	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser400Tyr	COSM1469573	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030747C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Gln401His	COSM6188032	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030751G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Leu403Ter	COSM6188031	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.80030756T>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Pro405Leu	rs1025023287	missense variant	-	NC_000023.11:g.80030762C>T	TOPMed
TBX22	Q9Y458	p.Pro405Ala	NCI-TCGA novel	missense variant	-	chrX:g.80030761C>G	NCI-TCGA
TBX22	Q9Y458	p.Pro405Gln	NCI-TCGA novel	missense variant	-	chrX:g.80030762C>A	NCI-TCGA
TBX22	Q9Y458	p.Pro405Thr	COSM6188030	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030761C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Met407Ile	COSM3563657	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030769G>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Met407Leu	COSM6119711	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030767A>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Met408Thr	rs1412033085	missense variant	-	NC_000023.11:g.80030771T>C	TOPMed
TBX22	Q9Y458	p.Met408Arg	rs1412033085	missense variant	-	NC_000023.11:g.80030771T>G	TOPMed
TBX22	Q9Y458	p.Glu409Gly	rs1490218662	missense variant	-	NC_000023.11:g.80030774A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Val410Met	rs1199668767	missense variant	-	NC_000023.11:g.80030776G>A	gnomAD
TBX22	Q9Y458	p.Val410LeuAlaCysTerSerProLeuAlaValGln	NCI-TCGA novel	stop gained	-	chrX:g.80030777_80030778insACTGGCCTGCTGATCACCTCTTGCTGTCCA	NCI-TCGA
TBX22	Q9Y458	p.Pro411Arg	rs969121159	missense variant	-	NC_000023.11:g.80030780C>G	TOPMed
TBX22	Q9Y458	p.Pro411LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.80030779C>-	NCI-TCGA
TBX22	Q9Y458	p.Pro411Ser	NCI-TCGA novel	missense variant	-	chrX:g.80030779C>T	NCI-TCGA
TBX22	Q9Y458	p.Met412Thr	rs1249027829	missense variant	-	NC_000023.11:g.80030783T>C	gnomAD
TBX22	Q9Y458	p.Ser414Phe	COSM758314	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030789C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Gly417Val	rs770817802	missense variant	-	NC_000023.11:g.80030798G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val418Ile	rs1167726911	missense variant	-	NC_000023.11:g.80030800G>A	gnomAD
TBX22	Q9Y458	p.Val418Leu	rs1167726911	missense variant	-	NC_000023.11:g.80030800G>C	gnomAD
TBX22	Q9Y458	p.Val418SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	chrX:g.80030796G>-	NCI-TCGA
TBX22	Q9Y458	p.Val418Phe	rs1167726911	missense variant	-	NC_000023.11:g.80030800G>T	gnomAD
TBX22	Q9Y458	p.Gly424Ser	rs773209426	missense variant	-	NC_000023.11:g.80030818G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser426Cys	rs936807563	missense variant	-	NC_000023.11:g.80030825C>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu427Lys	rs1363320972	missense variant	-	NC_000023.11:g.80030827G>A	gnomAD
TBX22	Q9Y458	p.Asp428His	NCI-TCGA novel	missense variant	-	chrX:g.80030830G>C	NCI-TCGA
TBX22	Q9Y458	p.Ser429Tyr	NCI-TCGA novel	missense variant	-	chrX:g.80030834C>A	NCI-TCGA
TBX22	Q9Y458	p.Ser430Arg	NCI-TCGA novel	missense variant	-	chrX:g.80030838T>G	NCI-TCGA
TBX22	Q9Y458	p.Ser430Asn	rs769585668	missense variant	-	NC_000023.11:g.80030837G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Asp431Glu	rs763224704	missense variant	-	NC_000023.11:g.80030841T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gln432Ter	NCI-TCGA novel	stop gained	-	chrX:g.80030842C>T	NCI-TCGA
TBX22	Q9Y458	p.Tyr433Cys	rs145861460	missense variant	-	NC_000023.11:g.80030846A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr433Ser	rs145861460	missense variant	-	NC_000023.11:g.80030846A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala436Val	rs767870694	missense variant	-	NC_000023.11:g.80030855C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Pro437Leu	NCI-TCGA novel	missense variant	-	chrX:g.80030858C>T	NCI-TCGA
TBX22	Q9Y458	p.Pro437Ser	rs750980922	missense variant	-	NC_000023.11:g.80030857C>T	ExAC
TBX22	Q9Y458	p.Asn438Asp	rs761055625	missense variant	-	NC_000023.11:g.80030860A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asn438Ser	NCI-TCGA novel	missense variant	-	chrX:g.80030861A>G	NCI-TCGA
TBX22	Q9Y458	p.Ser439Tyr	COSM1125781	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030864C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser439Pro	COSM277622	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030863T>C	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Asn441Ser	rs766918607	missense variant	-	NC_000023.11:g.80030870A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Met443Ile	rs774880507	missense variant	-	NC_000023.11:g.80030877G>A	gnomAD
TBX22	Q9Y458	p.Gln448His	NCI-TCGA novel	missense variant	-	chrX:g.80030892G>C	NCI-TCGA
TBX22	Q9Y458	p.Ser449Pro	NCI-TCGA novel	missense variant	-	chrX:g.80030893T>C	NCI-TCGA
TBX22	Q9Y458	p.Pro456Leu	NCI-TCGA novel	missense variant	-	chrX:g.80030915C>T	NCI-TCGA
TBX22	Q9Y458	p.Asn457Asp	rs1041301641	missense variant	-	NC_000023.11:g.80030917A>G	TOPMed
TBX22	Q9Y458	p.Ser458Pro	rs1288986462	missense variant	-	NC_000023.11:g.80030920T>C	TOPMed
TBX22	Q9Y458	p.Ser458Cys	rs1165036733	missense variant	-	NC_000023.11:g.80030921C>G	gnomAD
TBX22	Q9Y458	p.Ser458Pro	NCI-TCGA novel	missense variant	-	chrX:g.80030920T>C	NCI-TCGA
TBX22	Q9Y458	p.Ile459Val	rs1249151692	missense variant	-	NC_000023.11:g.80030923A>G	gnomAD
TBX22	Q9Y458	p.Pro461Leu	rs1348703924	missense variant	-	NC_000023.11:g.80030930C>T	TOPMed
TBX22	Q9Y458	p.Pro461Thr	NCI-TCGA novel	missense variant	-	chrX:g.80030929C>A	NCI-TCGA
TBX22	Q9Y458	p.Pro461Ser	rs1451795165	missense variant	-	NC_000023.11:g.80030929C>T	gnomAD
TBX22	Q9Y458	p.Glu462Ter	NCI-TCGA novel	stop gained	-	chrX:g.80030932G>T	NCI-TCGA
TBX22	Q9Y458	p.Ala463Thr	rs113672075	missense variant	-	NC_000023.11:g.80030935G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala463Pro	rs113672075	missense variant	-	NC_000023.11:g.80030935G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser465Arg	rs750989813	missense variant	-	NC_000023.11:g.80030941A>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ser465Ile	rs756809972	missense variant	-	NC_000023.11:g.80030942G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ser465Ile	rs756809972	missense variant	-	chrX:g.80030942G>T	NCI-TCGA,NCI-TCGA Cosmic
TBX22	Q9Y458	p.Cys466Arg	rs780937825	missense variant	-	NC_000023.11:g.80030944T>C	ExAC
TBX22	Q9Y458	p.Cys466Phe	rs1166970843	missense variant	-	NC_000023.11:g.80030945G>T	TOPMed
TBX22	Q9Y458	p.Ser467Cys	NCI-TCGA novel	missense variant	-	chrX:g.80030948C>G	NCI-TCGA
TBX22	Q9Y458	p.Ser471Phe	rs1057515990	missense variant	-	NC_000023.11:g.80030960C>T	-
TBX22	Q9Y458	p.Ser471Phe	COSM3563659	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030960C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser471Phe	RCV000277730	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80030960C>T	ClinVar
TBX22	Q9Y458	p.Tyr472Ter	rs1420275916	stop gained	-	NC_000023.11:g.80030964T>A	TOPMed
TBX22	Q9Y458	p.Asp473Tyr	rs1428508258	missense variant	-	NC_000023.11:g.80030965G>T	gnomAD
TBX22	Q9Y458	p.Asp473Asn	COSM6119710	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030965G>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Phe474Leu	NCI-TCGA novel	missense variant	-	chrX:g.80030970T>G	NCI-TCGA
TBX22	Q9Y458	p.Tyr475Phe	rs148996612	missense variant	-	NC_000023.11:g.80030972A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg476Thr	rs1398432972	missense variant	-	NC_000023.11:g.80030975G>C	gnomAD
TBX22	Q9Y458	p.Arg476Ile	NCI-TCGA novel	missense variant	-	chrX:g.80030975G>T	NCI-TCGA
TBX22	Q9Y458	p.Tyr477Ter	rs1488086366	stop gained	-	NC_000023.11:g.80030979C>G	TOPMed
TBX22	Q9Y458	p.Asn478Asp	rs1014680559	missense variant	-	NC_000023.11:g.80030980A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Phe479Leu	rs779885451	missense variant	-	NC_000023.11:g.80030985C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser480Tyr	rs749491524	missense variant	-	NC_000023.11:g.80030987C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Met481Thr	rs1490458896	missense variant	-	NC_000023.11:g.80030990T>C	TOPMed
TBX22	Q9Y458	p.Pro482Thr	rs969874867	missense variant	-	NC_000023.11:g.80030992C>A	TOPMed
TBX22	Q9Y458	p.Pro482Ser	COSM6188029	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80030992C>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser483Tyr	NCI-TCGA novel	missense variant	-	chrX:g.80030996C>A	NCI-TCGA
TBX22	Q9Y458	p.Leu485Met	rs768802533	missense variant	-	chrX:g.80031001C>A	NCI-TCGA,NCI-TCGA Cosmic
TBX22	Q9Y458	p.Leu485Met	rs768802533	missense variant	-	NC_000023.11:g.80031001C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ile486Val	rs1245730670	missense variant	-	NC_000023.11:g.80031004A>G	gnomAD
TBX22	Q9Y458	p.Gly488Asp	rs373265224	missense variant	-	NC_000023.11:g.80031011G>A	ESP
TBX22	Q9Y458	p.Gly488ValPheSerTerUnk	NCI-TCGA novel	frameshift	-	chrX:g.80031006_80031007insTC	NCI-TCGA
TBX22	Q9Y458	p.Gly488Cys	COSM6119709	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80031010G>T	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Gly488Ser	rs897670250	missense variant	-	NC_000023.11:g.80031010G>A	TOPMed
TBX22	Q9Y458	p.Leu492Phe	NCI-TCGA novel	missense variant	-	chrX:g.80031022C>T	NCI-TCGA
TBX22	Q9Y458	p.Asp496Val	NCI-TCGA novel	missense variant	-	chrX:g.80031035A>T	NCI-TCGA
TBX22	Q9Y458	p.Asp497Asn	rs761750322	missense variant	-	NC_000023.11:g.80031037G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp497Asn	rs761750322	missense variant	-	chrX:g.80031037G>A	NCI-TCGA,NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser498Thr	rs1204623529	missense variant	-	NC_000023.11:g.80031041G>C	gnomAD
TBX22	Q9Y458	p.Val500Ile	rs377496944	missense variant	-	NC_000023.11:g.80031046G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val500Ala	COSM1125784	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80031047T>C	NCI-TCGA Cosmic
TBX22	Q9Y458	p.Ser501Tyr	NCI-TCGA novel	missense variant	-	chrX:g.80031050C>A	NCI-TCGA
TBX22	Q9Y458	p.Glu504Lys	rs1466592835	missense variant	-	NC_000023.11:g.80031058G>A	gnomAD
TBX22	Q9Y458	p.Glu504Ter	NCI-TCGA novel	stop gained	-	chrX:g.80031058G>T	NCI-TCGA
TBX22	Q9Y458	p.Gly505Val	rs773849952	missense variant	-	NC_000023.11:g.80031062G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Lys506Glu	rs1366025063	missense variant	-	NC_000023.11:g.80031064A>G	TOPMed
TBX22	Q9Y458	p.Cys507Trp	rs759090332	missense variant	-	NC_000023.11:g.80031069T>G	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Cys507Arg	rs371101114	missense variant	-	NC_000023.11:g.80031067T>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val510Ala	rs1405877376	missense variant	-	NC_000023.11:g.80031077T>C	TOPMed
TBX22	Q9Y458	p.His511Arg	rs1380250965	missense variant	-	NC_000023.11:g.80031080A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Trp512Cys	rs374690782	missense variant	-	NC_000023.11:g.80031084G>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Trp512Ser	rs754291870	missense variant	-	NC_000023.11:g.80031083G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Trp512Cys	rs374690782	missense variant	-	NC_000023.11:g.80031084G>T	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro514Ser	rs764594284	missense variant	-	NC_000023.11:g.80031088C>T	1000Genomes
TBX22	Q9Y458	p.Ala515Glu	rs201336957	missense variant	-	NC_000023.11:g.80031092C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala515Glu	RCV000330393	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80031092C>A	ClinVar
TBX22	Q9Y458	p.His518Asn	COSM5610741	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.80031100C>A	NCI-TCGA Cosmic
TBX22	Q9Y458	p.His518Tyr	rs751233114	missense variant	-	NC_000023.11:g.80031100C>T	ExAC,gnomAD
TBX22	Q9Y458	p.His518Arg	rs756659631	missense variant	-	NC_000023.11:g.80031101A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu520Val	rs1458690652	missense variant	-	NC_000023.11:g.80031106C>G	gnomAD
TBX22	Q9Y458	p.Ala2Thr	rs750415957	missense variant	-	NC_000023.11:g.80022273G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser4Asn	rs755916335	missense variant	-	NC_000023.11:g.80022280G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser5Tyr	rs766283070	missense variant	-	NC_000023.11:g.80022283C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg6Leu	rs551664098	missense variant	-	NC_000023.11:g.80022286G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Arg6Pro	rs551664098	missense variant	-	NC_000023.11:g.80022286G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Arg8Leu	rs915850492	missense variant	-	NC_000023.11:g.80022292G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg8Cys	rs1450772358	missense variant	-	NC_000023.11:g.80022291C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Phe10Ser	rs1300365859	missense variant	-	NC_000023.11:g.80022298T>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser11Thr	rs150098741	missense variant	-	NC_000023.11:g.80022300T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser11Cys	rs1476956919	missense variant	-	NC_000023.11:g.80022301C>G	gnomAD
TBX22	Q9Y458	p.Val16Ala	VAR_036066	Missense	-	-	UniProt
TBX22	Q9Y458	p.Gly17Glu	rs748304646	missense variant	-	NC_000023.11:g.80022319G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly17Trp	rs1193056525	missense variant	-	NC_000023.11:g.80022318G>T	gnomAD
TBX22	Q9Y458	p.Arg18Ile	rs1395804892	missense variant	-	NC_000023.11:g.80022322G>T	gnomAD
TBX22	Q9Y458	p.Pro19His	rs758506603	missense variant	-	NC_000023.11:g.80022325C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser20Ile	rs778207010	missense variant	-	NC_000023.11:g.80022328G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Gln25Glu	rs771215994	missense variant	-	NC_000023.11:g.80022342C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asp26His	rs781665863	missense variant	-	NC_000023.11:g.80022345G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ile28Met	rs148838409	missense variant	-	NC_000023.11:g.80022353A>G	ESP,ExAC
TBX22	Q9Y458	p.Ala30Glu	rs768403428	missense variant	-	NC_000023.11:g.80022358C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala30Val	rs768403428	missense variant	-	NC_000023.11:g.80022358C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu31Gln	rs761364666	missense variant	-	NC_000023.11:g.80022360G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu35Gln	rs771728632	missense variant	-	NC_000023.11:g.80022373T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg36Gln	rs1223023604	missense variant	-	NC_000023.11:g.80022376G>A	gnomAD
TBX22	Q9Y458	p.Arg36Trp	rs917472096	missense variant	-	NC_000023.11:g.80022375C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu37Lys	rs371055319	missense variant	-	NC_000023.11:g.80022378G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Lys39Met	rs753716446	missense variant	-	NC_000023.11:g.80022385A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Glu42Lys	rs759649828	missense variant	-	NC_000023.11:g.80022393G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu43Lys	rs1381212092	missense variant	-	NC_000023.11:g.80022396G>A	TOPMed
TBX22	Q9Y458	p.Glu45Gly	rs1445755500	missense variant	-	NC_000023.11:g.80022403A>G	gnomAD
TBX22	Q9Y458	p.Glu45Lys	rs950279249	missense variant	-	NC_000023.11:g.80022402G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu46Asp	rs765461432	missense variant	-	NC_000023.11:g.80022407G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Arg48Ser	rs1378785446	missense variant	-	NC_000023.11:g.80022413G>C	gnomAD
TBX22	Q9Y458	p.Ser49Thr	rs758412350	missense variant	-	NC_000023.11:g.80022415G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ser49Arg	rs752888029	missense variant	-	NC_000023.11:g.80022414A>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser50Asn	rs1361763002	missense variant	-	NC_000023.11:g.80022418G>A	TOPMed
TBX22	Q9Y458	p.Ala51Thr	VAR_036067	Missense	-	-	UniProt
TBX22	Q9Y458	p.Ala52Ser	rs1385199095	missense variant	-	NC_000023.11:g.80022423G>T	gnomAD
TBX22	Q9Y458	p.Gly53Glu	rs1331608078	missense variant	-	NC_000023.11:g.80022427G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly53Ala	rs1331608078	missense variant	-	NC_000023.11:g.80022427G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser55Arg	rs757815223	missense variant	-	NC_000023.11:g.80022434C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Ser55Ile	rs1339818189	missense variant	-	NC_000023.11:g.80022433G>T	gnomAD
TBX22	Q9Y458	p.Glu56Gln	rs104894945	missense variant	-	NC_000023.11:g.80022435G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu56Asp	rs1351169817	missense variant	-	NC_000023.11:g.80022437G>T	gnomAD
TBX22	Q9Y458	p.Glu56Ter	rs104894945	stop gained	-	NC_000023.11:g.80022435G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu56Asp	rs1351169817	missense variant	-	NC_000023.11:g.80022437G>C	gnomAD
TBX22	Q9Y458	p.Glu56Ter	RCV000012086	nonsense	Cleft palate with ankyloglossia	NC_000023.11:g.80022435G>T	ClinVar
TBX22	Q9Y458	p.Pro57Arg	rs770084170	missense variant	-	NC_000023.11:g.80022439C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Pro57Leu	rs770084170	missense variant	-	NC_000023.11:g.80022439C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Pro57Ser	rs781388378	missense variant	-	NC_000023.11:g.80022438C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro57Thr	rs781388378	missense variant	-	NC_000023.11:g.80022438C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu58Phe	rs778577936	missense variant	-	NC_000023.11:g.80022441C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Glu59Lys	rs747809017	missense variant	-	NC_000023.11:g.80022444G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gln61Lys	rs1328828965	missense variant	-	NC_000023.11:g.80023065C>A	TOPMed
TBX22	Q9Y458	p.Pro62Arg	rs1402938365	missense variant	-	NC_000023.11:g.80023069C>G	TOPMed
TBX22	Q9Y458	p.Thr64Ala	rs376071635	missense variant	-	NC_000023.11:g.80023074A>G	ESP,ExAC,gnomAD
TBX22	Q9Y458	p.Thr68Ile	rs1355613525	missense variant	-	NC_000023.11:g.80023087C>T	gnomAD
TBX22	Q9Y458	p.Ser69Pro	rs758173485	missense variant	-	NC_000023.11:g.80023089T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ala70Val	rs777388281	missense variant	-	NC_000023.11:g.80023093C>T	ExAC
TBX22	Q9Y458	p.Ser72Phe	rs1171603763	missense variant	-	NC_000023.11:g.80023099C>T	TOPMed
TBX22	Q9Y458	p.Gly73Asp	rs1461373694	missense variant	-	NC_000023.11:g.80023102G>A	gnomAD
TBX22	Q9Y458	p.Cys74Arg	rs1298540656	missense variant	-	NC_000023.11:g.80023104T>C	gnomAD
TBX22	Q9Y458	p.Asp77Asn	rs1423081813	missense variant	-	NC_000023.11:g.80023113G>A	TOPMed
TBX22	Q9Y458	p.Ser78Asn	rs369384425	missense variant	-	NC_000023.11:g.80023117G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr80Asn	rs776576140	missense variant	-	NC_000023.11:g.80023122T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly81Ser	rs769623927	missense variant	-	NC_000023.11:g.80023125G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly81Arg	rs769623927	missense variant	-	NC_000023.11:g.80023125G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser83Cys	rs1205788287	missense variant	-	NC_000023.11:g.80023131A>T	gnomAD
TBX22	Q9Y458	p.Ser84Cys	rs1487737018	missense variant	-	NC_000023.11:g.80023135C>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Asp91Asn	rs764339429	missense variant	-	NC_000023.11:g.80023155G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Asp91Val	rs1456246678	missense variant	-	NC_000023.11:g.80023156A>T	TOPMed
TBX22	Q9Y458	p.Asp91Tyr	rs764339429	missense variant	-	NC_000023.11:g.80023155G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ile92Thr	rs774586316	missense variant	-	NC_000023.11:g.80023159T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Met94Val	rs1480550016	missense variant	-	NC_000023.11:g.80023164A>G	gnomAD
TBX22	Q9Y458	p.Glu95Asp	rs1016944586	missense variant	-	NC_000023.11:g.80023169G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly98Val	rs1296394114	missense variant	-	NC_000023.11:g.80023177G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly98Glu	rs1296394114	missense variant	-	NC_000023.11:g.80023177G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Leu101Gln	rs137989876	missense variant	-	NC_000023.11:g.80023186T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu101Met	rs1367758632	missense variant	-	NC_000023.11:g.80023185C>A	TOPMed
TBX22	Q9Y458	p.Asp107Gly	rs377085198	missense variant	-	NC_000023.11:g.80023204A>G	ESP,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly109Arg	rs1379493336	missense variant	-	NC_000023.11:g.80023209G>A	TOPMed
TBX22	Q9Y458	p.Ile113Met	rs1456235873	missense variant	-	NC_000023.11:g.80023223C>G	gnomAD
TBX22	Q9Y458	p.Ala117Pro	rs369779825	missense variant	-	NC_000023.11:g.80023233G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala117Thr	rs369779825	missense variant	-	NC_000023.11:g.80023233G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly118Cys	rs104894944	missense variant	-	NC_000023.11:g.80023236G>T	-
TBX22	Q9Y458	p.Gly118Cys	rs104894944	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt,dbSNP
TBX22	Q9Y458	p.Gly118Cys	VAR_015383	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt
TBX22	Q9Y458	p.Gly118Cys	RCV000012083	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80023236G>T	ClinVar
TBX22	Q9Y458	p.Arg120Gly	rs1162711332	missense variant	-	NC_000023.11:g.80024064C>G	gnomAD
TBX22	Q9Y458	p.Arg120Gln	rs1385589233	missense variant	-	NC_000023.11:g.80024065G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Met121Val	VAR_021831	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Val125Ile	rs761944554	missense variant	-	NC_000023.11:g.80024079G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg126Gln	rs201456134	missense variant	-	NC_000023.11:g.80024083G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Lys128Asn	rs773214100	missense variant	-	NC_000023.11:g.80024090G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly131Val	rs1431655517	missense variant	-	NC_000023.11:g.80024098G>T	gnomAD
TBX22	Q9Y458	p.Pro134Ser	rs766953495	missense variant	-	NC_000023.11:g.80024106C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Pro134Thr	rs766953495	missense variant	-	NC_000023.11:g.80024106C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Tyr138His	rs759370678	missense variant	-	NC_000023.11:g.80024118T>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.His139Tyr	rs765704978	missense variant	-	NC_000023.11:g.80024121C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val140Leu	rs751216592	missense variant	-	NC_000023.11:g.80024124G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp143Asn	rs1403650886	missense variant	-	NC_000023.11:g.80024133G>A	TOPMed
TBX22	Q9Y458	p.Val145Met	rs1215959489	missense variant	-	NC_000023.11:g.80024139G>A	gnomAD
TBX22	Q9Y458	p.Pro146Arg	rs756913403	missense variant	-	NC_000023.11:g.80024143C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro146Leu	rs756913403	missense variant	-	NC_000023.11:g.80024143C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val147Met	rs1182860071	missense variant	-	NC_000023.11:g.80024145G>A	gnomAD
TBX22	Q9Y458	p.Ser149Phe	rs1446264071	missense variant	-	NC_000023.11:g.80024152C>T	gnomAD
TBX22	Q9Y458	p.Lys150Gln	rs1156605251	missense variant	-	NC_000023.11:g.80024154A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Lys150Gln	RCV000626748	missense variant	Cleft palate	NC_000023.11:g.80024154A>C	ClinVar
TBX22	Q9Y458	p.Arg151Leu	rs368136178	missense variant	-	NC_000023.11:g.80024158G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151Cys	rs1407601790	missense variant	-	NC_000023.11:g.80024157C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151His	rs368136178	missense variant	-	NC_000023.11:g.80024158G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val155Ala	rs1343056432	missense variant	-	NC_000023.11:g.80025608T>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Val155Ile	rs1470650923	missense variant	-	NC_000023.11:g.80025607G>A	gnomAD
TBX22	Q9Y458	p.Tyr156Cys	rs1423305487	missense variant	-	NC_000023.11:g.80025611A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.His157Tyr	rs760190777	missense variant	-	NC_000023.11:g.80025613C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ser158Arg	rs1177244637	missense variant	-	NC_000023.11:g.80025616A>C	gnomAD
TBX22	Q9Y458	p.Gln160Arg	rs1185725124	missense variant	-	NC_000023.11:g.80025623A>G	TOPMed
TBX22	Q9Y458	p.Val163Ala	rs765680258	missense variant	-	NC_000023.11:g.80025632T>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr167Arg	rs1328608615	missense variant	-	NC_000023.11:g.80025644C>G	gnomAD
TBX22	Q9Y458	p.His169Gln	rs1336674612	missense variant	-	NC_000023.11:g.80025651T>A	gnomAD
TBX22	Q9Y458	p.Leu170Phe	rs761492404	missense variant	-	NC_000023.11:g.80025654G>T	ExAC
TBX22	Q9Y458	p.Cys171Tyr	rs767034098	missense variant	-	NC_000023.11:g.80025656G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ile172Leu	rs963408036	missense variant	-	NC_000023.11:g.80025658A>C	TOPMed
TBX22	Q9Y458	p.Phe176Leu	rs755501455	missense variant	-	NC_000023.11:g.80025670T>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Tyr177His	rs1222428638	missense variant	-	NC_000023.11:g.80025673T>C	gnomAD
TBX22	Q9Y458	p.Val178Ala	rs1193114601	missense variant	-	NC_000023.11:g.80025677T>C	TOPMed
TBX22	Q9Y458	p.Pro180Leu	rs779543847	missense variant	-	NC_000023.11:g.80025683C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro183Thr	rs778648477	missense variant	-	NC_000023.11:g.80025691C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Pro183Leu	VAR_021832	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Ser185Leu	rs765734398	missense variant	-	NC_000023.11:g.80025698C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser185Leu	RCV000302811	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025698C>T	ClinVar
TBX22	Q9Y458	p.Glu187Lys	RCV000364607	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025703G>A	ClinVar
TBX22	Q9Y458	p.Glu187Lys	rs34244923	missense variant	-	NC_000023.11:g.80025703G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr188Ser	rs1431456050	missense variant	-	NC_000023.11:g.80025706A>T	gnomAD
TBX22	Q9Y458	p.Arg191Gln	rs747262805	missense variant	-	NC_000023.11:g.80025716G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg191Leu	rs747262805	missense variant	-	NC_000023.11:g.80025716G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg191Trp	rs993952750	missense variant	-	NC_000023.11:g.80025715C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser195insSerSer	VAR_069900	duplication	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Asp197Gly	rs1398927099	missense variant	-	NC_000023.11:g.80025734A>G	TOPMed
TBX22	Q9Y458	p.Arg198Leu	rs200542790	missense variant	-	NC_000023.11:g.80025737G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg198His	rs200542790	missense variant	-	NC_000023.11:g.80025737G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg198Ser	rs776905471	missense variant	-	NC_000023.11:g.80025736C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Met199Val	rs770461385	missense variant	-	NC_000023.11:g.80025739A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Met199Ile	rs1403879065	missense variant	-	NC_000023.11:g.80025741G>A	gnomAD
TBX22	Q9Y458	p.Asn203Ser	rs776093447	missense variant	-	NC_000023.11:g.80025752A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asp207Val	rs763177430	missense variant	-	NC_000023.11:g.80025764A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp208Gly	rs1224588185	missense variant	-	NC_000023.11:g.80025767A>G	gnomAD
TBX22	Q9Y458	p.Gly210Ser	rs764530704	missense variant	-	NC_000023.11:g.80025772G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly210Asp	rs772672988	missense variant	-	NC_000023.11:g.80025773G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly210Ala	rs772672988	missense variant	-	NC_000023.11:g.80025773G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Leu214Pro	rs104894946	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt,dbSNP
TBX22	Q9Y458	p.Leu214Pro	VAR_021829	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt
TBX22	Q9Y458	p.Leu214Pro	rs104894946	missense variant	-	NC_000023.11:g.80026711T>C	-
TBX22	Q9Y458	p.Leu214Pro	RCV000012087	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026711T>C	ClinVar
TBX22	Q9Y458	p.Gln215His	rs747225015	missense variant	-	NC_000023.11:g.80026715A>T	ExAC,gnomAD
TBX22	Q9Y458	p.His218Asn	rs757598908	missense variant	-	NC_000023.11:g.80026722C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr220Asp	rs1449258747	missense variant	-	NC_000023.11:g.80026728T>G	gnomAD
TBX22	Q9Y458	p.Pro222Thr	rs781385178	missense variant	-	NC_000023.11:g.80026734C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Val224Met	rs1445663868	missense variant	-	NC_000023.11:g.80026740G>A	gnomAD
TBX22	Q9Y458	p.His225Tyr	rs141355013	missense variant	-	NC_000023.11:g.80026743C>T	ESP,TOPMed,gnomAD
TBX22	Q9Y458	p.Val226Met	rs775801815	missense variant	-	NC_000023.11:g.80026746G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu228Lys	rs368794829	missense variant	-	NC_000023.11:g.80026752G>A	ESP,TOPMed
TBX22	Q9Y458	p.Gly230Asp	rs749803887	missense variant	-	NC_000023.11:g.80026759G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser232Asn	rs1298302616	missense variant	-	NC_000023.11:g.80026765G>A	TOPMed
TBX22	Q9Y458	p.Val233Ile	rs370372482	missense variant	-	NC_000023.11:g.80026767G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp234Glu	rs774836026	missense variant	-	NC_000023.11:g.80026772C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser236Phe	rs1305092063	missense variant	-	NC_000023.11:g.80026777C>T	TOPMed
TBX22	Q9Y458	p.Gln237Pro	rs992907062	missense variant	-	NC_000023.11:g.80026780A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro242Thr	rs765976780	missense variant	-	NC_000023.11:g.80026794C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Thr243Ser	rs1316821118	missense variant	-	NC_000023.11:g.80026797A>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Thr243Ala	rs1316821118	missense variant	-	NC_000023.11:g.80026797A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly245Asp	rs1238545711	missense variant	-	NC_000023.11:g.80026804G>A	gnomAD
TBX22	Q9Y458	p.Phe249Tyr	VAR_069416	Missense	-	-	UniProt
TBX22	Q9Y458	p.Glu255Gly	rs758990043	missense variant	-	NC_000023.11:g.80026834A>G	ExAC
TBX22	Q9Y458	p.Thr257Ser	rs764811230	missense variant	-	NC_000023.11:g.80026840C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Thr257Ile	rs764811230	missense variant	-	NC_000023.11:g.80026840C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr258Ile	rs758424012	missense variant	-	NC_000023.11:g.80026843C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr260Met	rs104894943	missense variant	-	NC_000023.11:g.80026849C>T	-
TBX22	Q9Y458	p.Thr260Met	rs104894943	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt,dbSNP
TBX22	Q9Y458	p.Thr260Met	VAR_015384	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt
TBX22	Q9Y458	p.Thr260Met	RCV000012082	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026849C>T	ClinVar
TBX22	Q9Y458	p.Asn264Tyr	rs28935177	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt,dbSNP
TBX22	Q9Y458	p.Asn264Tyr	VAR_021830	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt
TBX22	Q9Y458	p.Asn264Tyr	rs28935177	missense variant	-	NC_000023.11:g.80026860A>T	-
TBX22	Q9Y458	p.Asn264Tyr	RCV000012089	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026860A>T	ClinVar
TBX22	Q9Y458	p.Ile267Val	rs759255355	missense variant	-	NC_000023.11:g.80027256A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ile267Phe	rs759255355	missense variant	-	NC_000023.11:g.80027256A>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Arg	rs769176901	missense variant	-	NC_000023.11:g.80027260C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Met	rs769176901	missense variant	-	NC_000023.11:g.80027260C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Lys	rs769176901	missense variant	-	NC_000023.11:g.80027260C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu273Gly	rs1206744172	missense variant	-	NC_000023.11:g.80027275A>G	TOPMed
TBX22	Q9Y458	p.Pro276Thr	rs764049245	missense variant	-	NC_000023.11:g.80027283C>A	ExAC
TBX22	Q9Y458	p.Lys279Glu	rs1480540426	missense variant	-	NC_000023.11:g.80027292A>G	gnomAD
TBX22	Q9Y458	p.Asp283Tyr	rs1304491827	missense variant	-	NC_000023.11:g.80027304G>T	gnomAD
TBX22	Q9Y458	p.Arg288Met	rs767423228	missense variant	-	NC_000023.11:g.80027320G>T	ExAC
TBX22	Q9Y458	p.Gly289Val	rs1253379406	missense variant	-	NC_000023.11:g.80027993G>T	gnomAD
TBX22	Q9Y458	p.Leu291Phe	rs762472993	missense variant	-	NC_000023.11:g.80028000G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Gly293Arg	rs960682849	missense variant	-	NC_000023.11:g.80028004G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Leu295Phe	rs1428441084	missense variant	-	NC_000023.11:g.80028012A>C	TOPMed
TBX22	Q9Y458	p.Pro299Ser	rs1259647651	missense variant	-	NC_000023.11:g.80028022C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Trp300Ter	RCV000523410	nonsense	-	NC_000023.11:g.80028026G>A	ClinVar
TBX22	Q9Y458	p.Trp300Ter	rs1555993323	stop gained	-	NC_000023.11:g.80028026G>A	-
TBX22	Q9Y458	p.Trp300Arg	rs371749262	missense variant	-	NC_000023.11:g.80028025T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Leu306Ile	rs1490265878	missense variant	-	NC_000023.11:g.80028043C>A	gnomAD
TBX22	Q9Y458	p.Asp307Asn	rs750292974	missense variant	-	NC_000023.11:g.80028046G>A	UniProt,dbSNP
TBX22	Q9Y458	p.Asp307Asn	VAR_036068	missense variant	-	NC_000023.11:g.80028046G>A	UniProt
TBX22	Q9Y458	p.Asp307Asn	rs750292974	missense variant	-	NC_000023.11:g.80028046G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Lys309Thr	rs990805395	missense variant	-	NC_000023.11:g.80028053A>C	TOPMed
TBX22	Q9Y458	p.Thr310Ile	rs1320848821	missense variant	-	NC_000023.11:g.80028056C>T	TOPMed
TBX22	Q9Y458	p.Ala313Thr	rs527984602	missense variant	-	NC_000023.11:g.80028064G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp314Gly	rs767569061	missense variant	-	NC_000023.11:g.80028068A>G	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly318Arg	rs751915345	missense variant	-	NC_000023.11:g.80030500G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly318Arg	rs751915345	missense variant	-	NC_000023.11:g.80030500G>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly321Asp	rs1029502810	missense variant	-	NC_000023.11:g.80030510G>A	TOPMed
TBX22	Q9Y458	p.Gly321Ser	rs757798692	missense variant	-	NC_000023.11:g.80030509G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser323Thr	rs752017317	missense variant	-	NC_000023.11:g.80030515T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Val325Leu	rs781651154	missense variant	-	NC_000023.11:g.80030521G>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Thr326Ser	rs1052677632	missense variant	-	NC_000023.11:g.80030524A>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly329Arg	rs1459916896	missense variant	-	NC_000023.11:g.80030533G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro332Ser	rs1237797145	missense variant	-	NC_000023.11:g.80030542C>T	gnomAD
TBX22	Q9Y458	p.Ser337Thr	rs781474415	missense variant	-	NC_000023.11:g.80030557T>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser337Phe	rs1175746187	missense variant	-	NC_000023.11:g.80030558C>T	gnomAD
TBX22	Q9Y458	p.Phe344Leu	rs1407487643	missense variant	-	NC_000023.11:g.80030578T>C	gnomAD
TBX22	Q9Y458	p.Pro346Leu	rs1030946293	missense variant	-	NC_000023.11:g.80030585C>T	gnomAD
TBX22	Q9Y458	p.Pro346Arg	rs1030946293	missense variant	-	NC_000023.11:g.80030585C>G	gnomAD
TBX22	Q9Y458	p.Met347Val	rs372948739	missense variant	-	NC_000023.11:g.80030587A>G	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu350Phe	rs1469682502	missense variant	-	NC_000023.11:g.80030598A>T	gnomAD
TBX22	Q9Y458	p.Pro351Ser	rs778535394	missense variant	-	NC_000023.11:g.80030599C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr352Ala	rs747613335	missense variant	-	NC_000023.11:g.80030602A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Thr352Ile	rs1470640756	missense variant	-	NC_000023.11:g.80030603C>T	TOPMed
TBX22	Q9Y458	p.Leu355Phe	rs1440442525	missense variant	-	NC_000023.11:g.80030611C>T	gnomAD
TBX22	Q9Y458	p.Met357Val	rs374765772	missense variant	-	NC_000023.11:g.80030617A>G	ESP,TOPMed
TBX22	Q9Y458	p.Pro358Thr	rs1277452059	missense variant	-	NC_000023.11:g.80030620C>A	gnomAD
TBX22	Q9Y458	p.Cys359Ser	rs369127582	missense variant	-	NC_000023.11:g.80030623T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Cys359Arg	rs369127582	missense variant	-	NC_000023.11:g.80030623T>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr363Cys	rs746987550	missense variant	-	NC_000023.11:g.80030636A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu364Pro	rs1202905184	missense variant	-	NC_000023.11:g.80030639T>C	gnomAD
TBX22	Q9Y458	p.Pro365His	rs916621625	missense variant	-	NC_000023.11:g.80030642C>A	TOPMed
TBX22	Q9Y458	p.Asn366Ser	rs769725713	missense variant	-	NC_000023.11:g.80030645A>G	1000Genomes
TBX22	Q9Y458	p.Val367Gly	rs1279217597	missense variant	-	NC_000023.11:g.80030648T>G	gnomAD
TBX22	Q9Y458	p.Pro370Leu	rs1202172633	missense variant	-	NC_000023.11:g.80030657C>T	gnomAD
TBX22	Q9Y458	p.Cys372Arg	rs948170365	missense variant	-	NC_000023.11:g.80030662T>C	TOPMed
TBX22	Q9Y458	p.Cys372Tyr	rs765407594	missense variant	-	NC_000023.11:g.80030663G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr373Cys	rs775706886	missense variant	-	NC_000023.11:g.80030666A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Cys376Phe	rs982648449	missense variant	-	NC_000023.11:g.80030675G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Thr378Ser	rs887597789	missense variant	-	NC_000023.11:g.80030680A>T	TOPMed
TBX22	Q9Y458	p.Asn379His	rs1177856114	missense variant	-	NC_000023.11:g.80030683A>C	gnomAD
TBX22	Q9Y458	p.Asn379Ile	rs762959263	missense variant	-	NC_000023.11:g.80030684A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Phe380Ser	rs764159886	missense variant	-	NC_000023.11:g.80030687T>C	ExAC
TBX22	Q9Y458	p.Trp381Ter	rs1014775367	stop gained	-	NC_000023.11:g.80030691G>A	TOPMed
TBX22	Q9Y458	p.Trp381Cys	rs1014775367	missense variant	-	NC_000023.11:g.80030691G>C	TOPMed
TBX22	Q9Y458	p.Trp381Leu	rs752099645	missense variant	-	NC_000023.11:g.80030690G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gln384Lys	rs1353576298	missense variant	-	NC_000023.11:g.80030698C>A	gnomAD
TBX22	Q9Y458	p.Pro385Ser	rs767900601	missense variant	-	NC_000023.11:g.80030701C>T	ExAC
TBX22	Q9Y458	p.Leu388Phe	rs1343152462	missense variant	-	NC_000023.11:g.80030712A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro389Leu	rs756577621	missense variant	-	NC_000023.11:g.80030714C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ala390Thr	rs189969457	missense variant	-	NC_000023.11:g.80030716G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Ala390Asp	rs141303126	missense variant	-	NC_000023.11:g.80030717C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala395Thr	rs992049559	missense variant	-	NC_000023.11:g.80030731G>A	TOPMed
TBX22	Q9Y458	p.Ser397Arg	rs940977409	missense variant	-	NC_000023.11:g.80030739C>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Asn398Ser	rs1207504606	missense variant	-	NC_000023.11:g.80030741A>G	gnomAD
TBX22	Q9Y458	p.Pro405Leu	rs1025023287	missense variant	-	NC_000023.11:g.80030762C>T	TOPMed
TBX22	Q9Y458	p.Met408Thr	rs1412033085	missense variant	-	NC_000023.11:g.80030771T>C	TOPMed
TBX22	Q9Y458	p.Met408Arg	rs1412033085	missense variant	-	NC_000023.11:g.80030771T>G	TOPMed
TBX22	Q9Y458	p.Glu409Gly	rs1490218662	missense variant	-	NC_000023.11:g.80030774A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Val410Met	rs1199668767	missense variant	-	NC_000023.11:g.80030776G>A	gnomAD
TBX22	Q9Y458	p.Pro411Arg	rs969121159	missense variant	-	NC_000023.11:g.80030780C>G	TOPMed
TBX22	Q9Y458	p.Met412Thr	rs1249027829	missense variant	-	NC_000023.11:g.80030783T>C	gnomAD
TBX22	Q9Y458	p.Gly417Val	rs770817802	missense variant	-	NC_000023.11:g.80030798G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val418Ile	rs1167726911	missense variant	-	NC_000023.11:g.80030800G>A	gnomAD
TBX22	Q9Y458	p.Val418Leu	rs1167726911	missense variant	-	NC_000023.11:g.80030800G>C	gnomAD
TBX22	Q9Y458	p.Val418Phe	rs1167726911	missense variant	-	NC_000023.11:g.80030800G>T	gnomAD
TBX22	Q9Y458	p.Gly424Ser	rs773209426	missense variant	-	NC_000023.11:g.80030818G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser426Cys	rs936807563	missense variant	-	NC_000023.11:g.80030825C>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu427Lys	rs1363320972	missense variant	-	NC_000023.11:g.80030827G>A	gnomAD
TBX22	Q9Y458	p.Ser430Asn	rs769585668	missense variant	-	NC_000023.11:g.80030837G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Asp431Glu	rs763224704	missense variant	-	NC_000023.11:g.80030841T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Tyr433Cys	rs145861460	missense variant	-	NC_000023.11:g.80030846A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr433Ser	rs145861460	missense variant	-	NC_000023.11:g.80030846A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala436Val	rs767870694	missense variant	-	NC_000023.11:g.80030855C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Pro437Ser	rs750980922	missense variant	-	NC_000023.11:g.80030857C>T	ExAC
TBX22	Q9Y458	p.Asn438Asp	rs761055625	missense variant	-	NC_000023.11:g.80030860A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asn441Ser	rs766918607	missense variant	-	NC_000023.11:g.80030870A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Met443Ile	rs774880507	missense variant	-	NC_000023.11:g.80030877G>A	gnomAD
TBX22	Q9Y458	p.Asn457Asp	rs1041301641	missense variant	-	NC_000023.11:g.80030917A>G	TOPMed
TBX22	Q9Y458	p.Ser458Pro	rs1288986462	missense variant	-	NC_000023.11:g.80030920T>C	TOPMed
TBX22	Q9Y458	p.Ser458Cys	rs1165036733	missense variant	-	NC_000023.11:g.80030921C>G	gnomAD
TBX22	Q9Y458	p.Ile459Val	rs1249151692	missense variant	-	NC_000023.11:g.80030923A>G	gnomAD
TBX22	Q9Y458	p.Pro461Leu	rs1348703924	missense variant	-	NC_000023.11:g.80030930C>T	TOPMed
TBX22	Q9Y458	p.Pro461Ser	rs1451795165	missense variant	-	NC_000023.11:g.80030929C>T	gnomAD
TBX22	Q9Y458	p.Ala463Thr	rs113672075	missense variant	-	NC_000023.11:g.80030935G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala463Pro	rs113672075	missense variant	-	NC_000023.11:g.80030935G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser465Arg	rs750989813	missense variant	-	NC_000023.11:g.80030941A>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ser465Ile	rs756809972	missense variant	-	NC_000023.11:g.80030942G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Cys466Phe	rs1166970843	missense variant	-	NC_000023.11:g.80030945G>T	TOPMed
TBX22	Q9Y458	p.Cys466Arg	rs780937825	missense variant	-	NC_000023.11:g.80030944T>C	ExAC
TBX22	Q9Y458	p.Ser471Phe	rs1057515990	missense variant	-	NC_000023.11:g.80030960C>T	-
TBX22	Q9Y458	p.Ser471Phe	RCV000277730	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80030960C>T	ClinVar
TBX22	Q9Y458	p.Tyr472Ter	rs1420275916	stop gained	-	NC_000023.11:g.80030964T>A	TOPMed
TBX22	Q9Y458	p.Asp473Tyr	rs1428508258	missense variant	-	NC_000023.11:g.80030965G>T	gnomAD
TBX22	Q9Y458	p.Tyr475Phe	rs148996612	missense variant	-	NC_000023.11:g.80030972A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg476Thr	rs1398432972	missense variant	-	NC_000023.11:g.80030975G>C	gnomAD
TBX22	Q9Y458	p.Tyr477Ter	rs1488086366	stop gained	-	NC_000023.11:g.80030979C>G	TOPMed
TBX22	Q9Y458	p.Asn478Asp	rs1014680559	missense variant	-	NC_000023.11:g.80030980A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Phe479Leu	rs779885451	missense variant	-	NC_000023.11:g.80030985C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser480Tyr	rs749491524	missense variant	-	NC_000023.11:g.80030987C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Met481Thr	rs1490458896	missense variant	-	NC_000023.11:g.80030990T>C	TOPMed
TBX22	Q9Y458	p.Pro482Thr	rs969874867	missense variant	-	NC_000023.11:g.80030992C>A	TOPMed
TBX22	Q9Y458	p.Leu485Met	rs768802533	missense variant	-	NC_000023.11:g.80031001C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ile486Val	rs1245730670	missense variant	-	NC_000023.11:g.80031004A>G	gnomAD
TBX22	Q9Y458	p.Gly488Asp	rs373265224	missense variant	-	NC_000023.11:g.80031011G>A	ESP
TBX22	Q9Y458	p.Gly488Ser	rs897670250	missense variant	-	NC_000023.11:g.80031010G>A	TOPMed
TBX22	Q9Y458	p.Asp497Asn	rs761750322	missense variant	-	NC_000023.11:g.80031037G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser498Thr	rs1204623529	missense variant	-	NC_000023.11:g.80031041G>C	gnomAD
TBX22	Q9Y458	p.Val500Ile	rs377496944	missense variant	-	NC_000023.11:g.80031046G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu504Lys	rs1466592835	missense variant	-	NC_000023.11:g.80031058G>A	gnomAD
TBX22	Q9Y458	p.Gly505Val	rs773849952	missense variant	-	NC_000023.11:g.80031062G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Lys506Glu	rs1366025063	missense variant	-	NC_000023.11:g.80031064A>G	TOPMed
TBX22	Q9Y458	p.Cys507Trp	rs759090332	missense variant	-	NC_000023.11:g.80031069T>G	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Cys507Arg	rs371101114	missense variant	-	NC_000023.11:g.80031067T>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val510Ala	rs1405877376	missense variant	-	NC_000023.11:g.80031077T>C	TOPMed
TBX22	Q9Y458	p.His511Arg	rs1380250965	missense variant	-	NC_000023.11:g.80031080A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Trp512Ser	rs754291870	missense variant	-	NC_000023.11:g.80031083G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Trp512Cys	rs374690782	missense variant	-	NC_000023.11:g.80031084G>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Trp512Cys	rs374690782	missense variant	-	NC_000023.11:g.80031084G>T	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro514Ser	rs764594284	missense variant	-	NC_000023.11:g.80031088C>T	1000Genomes
TBX22	Q9Y458	p.Ala515Glu	rs201336957	missense variant	-	NC_000023.11:g.80031092C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala515Glu	RCV000330393	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80031092C>A	ClinVar
TBX22	Q9Y458	p.His518Tyr	rs751233114	missense variant	-	NC_000023.11:g.80031100C>T	ExAC,gnomAD
TBX22	Q9Y458	p.His518Arg	rs756659631	missense variant	-	NC_000023.11:g.80031101A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu520Val	rs1458690652	missense variant	-	NC_000023.11:g.80031106C>G	gnomAD
TBX22	Q9Y458	p.Ala2Thr	rs750415957	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034550G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser4Asn	rs755916335	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034557G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser5Tyr	rs766283070	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034560C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg6Pro	rs551664098	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034563G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Arg6Leu	rs551664098	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034563G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Arg8Cys	rs1450772358	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034568C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg8Leu	rs915850492	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034569G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Phe10Ser	rs1300365859	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034575T>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser11Cys	rs1476956919	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034578C>G	gnomAD
TBX22	Q9Y458	p.Ser11Thr	rs150098741	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034577T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val16Ala	VAR_036066	Missense	-	-	UniProt
TBX22	Q9Y458	p.Gly17Trp	rs1193056525	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034595G>T	gnomAD
TBX22	Q9Y458	p.Gly17Glu	rs748304646	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034596G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg18Ile	rs1395804892	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034599G>T	gnomAD
TBX22	Q9Y458	p.Pro19His	rs758506603	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034602C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser20Ile	rs778207010	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034605G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Gln25Glu	rs771215994	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034619C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asp26His	rs781665863	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034622G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ile28Met	rs148838409	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034630A>G	ESP,ExAC
TBX22	Q9Y458	p.Ala30Val	rs768403428	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034635C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala30Glu	rs768403428	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034635C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu31Gln	rs761364666	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034637G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu35Gln	rs771728632	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034650T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg36Trp	rs917472096	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034652C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg36Gln	rs1223023604	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034653G>A	gnomAD
TBX22	Q9Y458	p.Glu37Lys	rs371055319	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034655G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Lys39Met	rs753716446	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034662A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Glu42Lys	rs759649828	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034670G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu43Lys	rs1381212092	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034673G>A	TOPMed
TBX22	Q9Y458	p.Glu45Lys	rs950279249	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034679G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu45Gly	rs1445755500	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034680A>G	gnomAD
TBX22	Q9Y458	p.Glu46Asp	rs765461432	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034684G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Arg48Ser	rs1378785446	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034690G>C	gnomAD
TBX22	Q9Y458	p.Ser49Thr	rs758412350	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034692G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ser49Arg	rs752888029	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034691A>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser50Asn	rs1361763002	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034695G>A	TOPMed
TBX22	Q9Y458	p.Ala51Thr	VAR_036067	Missense	-	-	UniProt
TBX22	Q9Y458	p.Ala52Ser	rs1385199095	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034700G>T	gnomAD
TBX22	Q9Y458	p.Gly53Glu	rs1331608078	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034704G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly53Ala	rs1331608078	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034704G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser55Arg	rs757815223	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034711C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Ser55Ile	rs1339818189	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034710G>T	gnomAD
TBX22	Q9Y458	p.Glu56Ter	RCV000012086	nonsense	Cleft palate with ankyloglossia	NC_000023.11:g.80022435G>T	ClinVar
TBX22	Q9Y458	p.Glu56Ter	rs104894945	stop gained	-	CHR_HSCHRX_2_CTG12:g.80034712G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu56Asp	rs1351169817	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034714G>C	gnomAD
TBX22	Q9Y458	p.Glu56Asp	rs1351169817	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034714G>T	gnomAD
TBX22	Q9Y458	p.Glu56Gln	rs104894945	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034712G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro57Thr	rs781388378	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034715C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro57Arg	rs770084170	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034716C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Pro57Ser	rs781388378	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034715C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro57Leu	rs770084170	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034716C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Leu58Phe	rs778577936	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034718C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Glu59Lys	rs747809017	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034721G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gln61Lys	rs1328828965	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035342C>A	TOPMed
TBX22	Q9Y458	p.Pro62Arg	rs1402938365	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035346C>G	TOPMed
TBX22	Q9Y458	p.Thr64Ala	rs376071635	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035351A>G	ESP,ExAC,gnomAD
TBX22	Q9Y458	p.Thr68Ile	rs1355613525	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035364C>T	gnomAD
TBX22	Q9Y458	p.Ser69Pro	rs758173485	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035366T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ala70Val	rs777388281	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035370C>T	ExAC
TBX22	Q9Y458	p.Ser72Phe	rs1171603763	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035376C>T	TOPMed
TBX22	Q9Y458	p.Gly73Asp	rs1461373694	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035379G>A	gnomAD
TBX22	Q9Y458	p.Cys74Arg	rs1298540656	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035381T>C	gnomAD
TBX22	Q9Y458	p.Asp77Asn	rs1423081813	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035390G>A	TOPMed
TBX22	Q9Y458	p.Ser78Asn	rs369384425	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035394G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr80Asn	rs776576140	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035399T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly81Arg	rs769623927	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035402G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly81Ser	rs769623927	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035402G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser83Cys	rs1205788287	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035408A>T	gnomAD
TBX22	Q9Y458	p.Ser84Cys	rs1487737018	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035412C>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Asp91Tyr	rs764339429	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035432G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp91Asn	rs764339429	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035432G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Asp91Val	rs1456246678	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035433A>T	TOPMed
TBX22	Q9Y458	p.Ile92Thr	rs774586316	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035436T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Met94Val	rs1480550016	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035441A>G	gnomAD
TBX22	Q9Y458	p.Glu95Asp	rs1016944586	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035446G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly98Val	rs1296394114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035454G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly98Glu	rs1296394114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035454G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Leu101Met	rs1367758632	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035462C>A	TOPMed
TBX22	Q9Y458	p.Leu101Gln	rs137989876	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035463T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp107Gly	rs377085198	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035481A>G	ESP,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly109Arg	rs1379493336	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035486G>A	TOPMed
TBX22	Q9Y458	p.Ile113Met	rs1456235873	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035500C>G	gnomAD
TBX22	Q9Y458	p.Ala117Thr	rs369779825	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala117Pro	rs369779825	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035510G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly118Cys	RCV000012083	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80023236G>T	ClinVar
TBX22	Q9Y458	p.Gly118Cys	rs104894944	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt,dbSNP
TBX22	Q9Y458	p.Gly118Cys	VAR_015383	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt
TBX22	Q9Y458	p.Arg120Gln	rs1385589233	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036342G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg120Gly	rs1162711332	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036341C>G	gnomAD
TBX22	Q9Y458	p.Met121Val	VAR_021831	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Val125Ile	rs761944554	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036356G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg126Gln	rs201456134	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036360G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Lys128Asn	rs773214100	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036367G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly131Val	rs1431655517	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036375G>T	gnomAD
TBX22	Q9Y458	p.Pro134Thr	rs766953495	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036383C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Pro134Ser	rs766953495	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036383C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Tyr138His	rs759370678	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036395T>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.His139Tyr	rs765704978	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036398C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val140Leu	rs751216592	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036401G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp143Asn	rs1403650886	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036410G>A	TOPMed
TBX22	Q9Y458	p.Val145Met	rs1215959489	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036416G>A	gnomAD
TBX22	Q9Y458	p.Pro146Leu	rs756913403	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036420C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro146Arg	rs756913403	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036420C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val147Met	rs1182860071	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036422G>A	gnomAD
TBX22	Q9Y458	p.Ser149Phe	rs1446264071	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036429C>T	gnomAD
TBX22	Q9Y458	p.Lys150Gln	RCV000626748	missense variant	Cleft palate	NC_000023.11:g.80024154A>C	ClinVar
TBX22	Q9Y458	p.Lys150Gln	rs1156605251	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036431A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151His	rs368136178	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036435G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151Leu	rs368136178	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036435G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151Cys	rs1407601790	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036434C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Val155Ile	rs1470650923	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037884G>A	gnomAD
TBX22	Q9Y458	p.Val155Ala	rs1343056432	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037885T>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr156Cys	rs1423305487	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037888A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.His157Tyr	rs760190777	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037890C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ser158Arg	rs1177244637	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037893A>C	gnomAD
TBX22	Q9Y458	p.Gln160Arg	rs1185725124	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037900A>G	TOPMed
TBX22	Q9Y458	p.Val163Ala	rs765680258	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037909T>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr167Arg	rs1328608615	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037921C>G	gnomAD
TBX22	Q9Y458	p.His169Gln	rs1336674612	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037928T>A	gnomAD
TBX22	Q9Y458	p.Leu170Phe	rs761492404	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037931G>T	ExAC
TBX22	Q9Y458	p.Cys171Tyr	rs767034098	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037933G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ile172Leu	rs963408036	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037935A>C	TOPMed
TBX22	Q9Y458	p.Phe176Leu	rs755501455	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037947T>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Tyr177His	rs1222428638	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037950T>C	gnomAD
TBX22	Q9Y458	p.Val178Ala	rs1193114601	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037954T>C	TOPMed
TBX22	Q9Y458	p.Pro180Leu	rs779543847	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037960C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro183Thr	rs778648477	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037968C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Pro183Leu	VAR_021832	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Ser185Leu	rs765734398	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037975C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser185Leu	RCV000302811	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025698C>T	ClinVar
TBX22	Q9Y458	p.Glu187Lys	rs34244923	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037980G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu187Lys	RCV000364607	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025703G>A	ClinVar
TBX22	Q9Y458	p.Thr188Ser	rs1431456050	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037983A>T	gnomAD
TBX22	Q9Y458	p.Arg191Trp	rs993952750	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037992C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg191Gln	rs747262805	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037993G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg191Leu	rs747262805	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037993G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser195insSerSer	VAR_069900	duplication	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Asp197Gly	rs1398927099	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038011A>G	TOPMed
TBX22	Q9Y458	p.Arg198Leu	rs200542790	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038014G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg198Ser	rs776905471	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038013C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg198His	rs200542790	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038014G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Met199Val	rs770461385	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038016A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Met199Ile	rs1403879065	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038018G>A	gnomAD
TBX22	Q9Y458	p.Asn203Ser	rs776093447	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038029A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asp207Val	rs763177430	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038041A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp208Gly	rs1224588185	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038044A>G	gnomAD
TBX22	Q9Y458	p.Gly210Asp	rs772672988	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038050G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly210Ser	rs764530704	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038049G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly210Ala	rs772672988	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038050G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Leu214Pro	rs104894946	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt,dbSNP
TBX22	Q9Y458	p.Leu214Pro	VAR_021829	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt
TBX22	Q9Y458	p.Leu214Pro	RCV000012087	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026711T>C	ClinVar
TBX22	Q9Y458	p.Gln215His	rs747225015	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038992A>T	ExAC,gnomAD
TBX22	Q9Y458	p.His218Asn	rs757598908	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038999C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr220Asp	rs1449258747	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039005T>G	gnomAD
TBX22	Q9Y458	p.Pro222Thr	rs781385178	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039011C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Val224Met	rs1445663868	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039017G>A	gnomAD
TBX22	Q9Y458	p.His225Tyr	rs141355013	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039020C>T	ESP,TOPMed,gnomAD
TBX22	Q9Y458	p.Val226Met	rs775801815	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039023G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu228Lys	rs368794829	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039029G>A	ESP,TOPMed
TBX22	Q9Y458	p.Gly230Asp	rs749803887	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039036G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser232Asn	rs1298302616	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039042G>A	TOPMed
TBX22	Q9Y458	p.Val233Ile	rs370372482	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039044G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp234Glu	rs774836026	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039049C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser236Phe	rs1305092063	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039054C>T	TOPMed
TBX22	Q9Y458	p.Gln237Pro	rs992907062	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039057A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro242Thr	rs765976780	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039071C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Thr243Ser	rs1316821118	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039074A>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Thr243Ala	rs1316821118	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039074A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly245Asp	rs1238545711	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039081G>A	gnomAD
TBX22	Q9Y458	p.Phe249Tyr	VAR_069416	Missense	-	-	UniProt
TBX22	Q9Y458	p.Glu255Gly	rs758990043	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039111A>G	ExAC
TBX22	Q9Y458	p.Thr257Ile	rs764811230	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039117C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr257Ser	rs764811230	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039117C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Thr258Ile	rs758424012	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039120C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr260Met	RCV000012082	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026849C>T	ClinVar
TBX22	Q9Y458	p.Thr260Met	rs104894943	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt,dbSNP
TBX22	Q9Y458	p.Thr260Met	VAR_015384	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt
TBX22	Q9Y458	p.Asn264Tyr	rs28935177	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt,dbSNP
TBX22	Q9Y458	p.Asn264Tyr	VAR_021830	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt
TBX22	Q9Y458	p.Asn264Tyr	RCV000012089	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026860A>T	ClinVar
TBX22	Q9Y458	p.Ile267Phe	rs759255355	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039533A>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ile267Val	rs759255355	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039533A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Lys	rs769176901	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039537C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Met	rs769176901	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039537C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Arg	rs769176901	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039537C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu273Gly	rs1206744172	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039552A>G	TOPMed
TBX22	Q9Y458	p.Pro276Thr	rs764049245	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039560C>A	ExAC
TBX22	Q9Y458	p.Lys279Glu	rs1480540426	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039569A>G	gnomAD
TBX22	Q9Y458	p.Asp283Tyr	rs1304491827	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039581G>T	gnomAD
TBX22	Q9Y458	p.Arg288Met	rs767423228	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039597G>T	ExAC
TBX22	Q9Y458	p.Gly289Val	rs1253379406	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040270G>T	gnomAD
TBX22	Q9Y458	p.Leu291Phe	rs762472993	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040277G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Gly293Arg	rs960682849	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040281G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Leu295Phe	rs1428441084	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040289A>C	TOPMed
TBX22	Q9Y458	p.Pro299Ser	rs1259647651	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040299C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Trp300Arg	rs371749262	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040302T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Trp300Ter	RCV000523410	nonsense	-	NC_000023.11:g.80028026G>A	ClinVar
TBX22	Q9Y458	p.Leu306Ile	rs1490265878	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040320C>A	gnomAD
TBX22	Q9Y458	p.Asp307Asn	rs750292974	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040323G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Asp307Asn	rs750292974	missense variant	-	NC_000023.11:g.80028046G>A	UniProt,dbSNP
TBX22	Q9Y458	p.Asp307Asn	VAR_036068	missense variant	-	NC_000023.11:g.80028046G>A	UniProt
TBX22	Q9Y458	p.Lys309Thr	rs990805395	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040330A>C	TOPMed
TBX22	Q9Y458	p.Thr310Ile	rs1320848821	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040333C>T	TOPMed
TBX22	Q9Y458	p.Ala313Thr	rs527984602	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040341G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp314Gly	rs767569061	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040345A>G	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly318Arg	rs751915345	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042777G>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly318Arg	rs751915345	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042777G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly321Asp	rs1029502810	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042787G>A	TOPMed
TBX22	Q9Y458	p.Gly321Ser	rs757798692	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042786G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser323Thr	rs752017317	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042792T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Val325Leu	rs781651154	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042798G>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Thr326Ser	rs1052677632	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042801A>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly329Arg	rs1459916896	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042810G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro332Ser	rs1237797145	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042819C>T	gnomAD
TBX22	Q9Y458	p.Ser337Phe	rs1175746187	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042835C>T	gnomAD
TBX22	Q9Y458	p.Ser337Thr	rs781474415	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042834T>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Phe344Leu	rs1407487643	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042855T>C	gnomAD
TBX22	Q9Y458	p.Pro346Arg	rs1030946293	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042862C>G	gnomAD
TBX22	Q9Y458	p.Pro346Leu	rs1030946293	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042862C>T	gnomAD
TBX22	Q9Y458	p.Met347Val	rs372948739	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042864A>G	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu350Phe	rs1469682502	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042875A>T	gnomAD
TBX22	Q9Y458	p.Pro351Ser	rs778535394	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042876C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr352Ile	rs1470640756	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042880C>T	TOPMed
TBX22	Q9Y458	p.Thr352Ala	rs747613335	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042879A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Leu355Phe	rs1440442525	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042888C>T	gnomAD
TBX22	Q9Y458	p.Met357Val	rs374765772	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042894A>G	ESP,TOPMed
TBX22	Q9Y458	p.Pro358Thr	rs1277452059	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042897C>A	gnomAD
TBX22	Q9Y458	p.Cys359Ser	rs369127582	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042900T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Cys359Arg	rs369127582	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042900T>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr363Cys	rs746987550	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042913A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu364Pro	rs1202905184	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042916T>C	gnomAD
TBX22	Q9Y458	p.Pro365His	rs916621625	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042919C>A	TOPMed
TBX22	Q9Y458	p.Asn366Ser	rs769725713	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042922A>G	1000Genomes
TBX22	Q9Y458	p.Val367Gly	rs1279217597	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042925T>G	gnomAD
TBX22	Q9Y458	p.Pro370Leu	rs1202172633	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042934C>T	gnomAD
TBX22	Q9Y458	p.Cys372Tyr	rs765407594	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042940G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Cys372Arg	rs948170365	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042939T>C	TOPMed
TBX22	Q9Y458	p.Tyr373Cys	rs775706886	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042943A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Cys376Phe	rs982648449	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042952G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Thr378Ser	rs887597789	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042957A>T	TOPMed
TBX22	Q9Y458	p.Asn379His	rs1177856114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042960A>C	gnomAD
TBX22	Q9Y458	p.Asn379Ile	rs762959263	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042961A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Phe380Ser	rs764159886	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042964T>C	ExAC
TBX22	Q9Y458	p.Trp381Ter	rs1014775367	stop gained	-	CHR_HSCHRX_2_CTG12:g.80042968G>A	TOPMed
TBX22	Q9Y458	p.Trp381Cys	rs1014775367	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042968G>C	TOPMed
TBX22	Q9Y458	p.Trp381Leu	rs752099645	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042967G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gln384Lys	rs1353576298	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042975C>A	gnomAD
TBX22	Q9Y458	p.Pro385Ser	rs767900601	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042978C>T	ExAC
TBX22	Q9Y458	p.Leu388Phe	rs1343152462	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042989A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro389Leu	rs756577621	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042991C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ala390Asp	rs141303126	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042994C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala390Thr	rs189969457	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042993G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Ala395Thr	rs992049559	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043008G>A	TOPMed
TBX22	Q9Y458	p.Ser397Arg	rs940977409	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043016C>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Asn398Ser	rs1207504606	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043018A>G	gnomAD
TBX22	Q9Y458	p.Pro405Leu	rs1025023287	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043039C>T	TOPMed
TBX22	Q9Y458	p.Met408Thr	rs1412033085	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043048T>C	TOPMed
TBX22	Q9Y458	p.Met408Arg	rs1412033085	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043048T>G	TOPMed
TBX22	Q9Y458	p.Glu409Gly	rs1490218662	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043051A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Val410Met	rs1199668767	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043053G>A	gnomAD
TBX22	Q9Y458	p.Pro411Arg	rs969121159	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043057C>G	TOPMed
TBX22	Q9Y458	p.Met412Thr	rs1249027829	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043060T>C	gnomAD
TBX22	Q9Y458	p.Gly417Val	rs770817802	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043075G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val418Leu	rs1167726911	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043077G>C	gnomAD
TBX22	Q9Y458	p.Val418Ile	rs1167726911	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043077G>A	gnomAD
TBX22	Q9Y458	p.Val418Phe	rs1167726911	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043077G>T	gnomAD
TBX22	Q9Y458	p.Gly424Ser	rs773209426	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043095G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser426Cys	rs936807563	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043102C>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu427Lys	rs1363320972	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043104G>A	gnomAD
TBX22	Q9Y458	p.Ser430Asn	rs769585668	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043114G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Asp431Glu	rs763224704	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043118T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Tyr433Ser	rs145861460	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043123A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr433Cys	rs145861460	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043123A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala436Val	rs767870694	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043132C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Pro437Ser	rs750980922	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043134C>T	ExAC
TBX22	Q9Y458	p.Asn438Asp	rs761055625	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043137A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asn441Ser	rs766918607	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043147A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Met443Ile	rs774880507	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043154G>A	gnomAD
TBX22	Q9Y458	p.Asn457Asp	rs1041301641	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043194A>G	TOPMed
TBX22	Q9Y458	p.Ser458Cys	rs1165036733	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043198C>G	gnomAD
TBX22	Q9Y458	p.Ser458Pro	rs1288986462	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043197T>C	TOPMed
TBX22	Q9Y458	p.Ile459Val	rs1249151692	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043200A>G	gnomAD
TBX22	Q9Y458	p.Pro461Ser	rs1451795165	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043206C>T	gnomAD
TBX22	Q9Y458	p.Pro461Leu	rs1348703924	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043207C>T	TOPMed
TBX22	Q9Y458	p.Ala463Thr	rs113672075	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043212G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala463Pro	rs113672075	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043212G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser465Ile	rs756809972	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043219G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ser465Arg	rs750989813	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043218A>C	ExAC,gnomAD
TBX22	Q9Y458	p.Cys466Arg	rs780937825	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043221T>C	ExAC
TBX22	Q9Y458	p.Cys466Phe	rs1166970843	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043222G>T	TOPMed
TBX22	Q9Y458	p.Ser471Phe	RCV000277730	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80030960C>T	ClinVar
TBX22	Q9Y458	p.Tyr472Ter	rs1420275916	stop gained	-	CHR_HSCHRX_2_CTG12:g.80043241T>A	TOPMed
TBX22	Q9Y458	p.Asp473Tyr	rs1428508258	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043242G>T	gnomAD
TBX22	Q9Y458	p.Tyr475Phe	rs148996612	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043249A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg476Thr	rs1398432972	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043252G>C	gnomAD
TBX22	Q9Y458	p.Tyr477Ter	rs1488086366	stop gained	-	CHR_HSCHRX_2_CTG12:g.80043256C>G	TOPMed
TBX22	Q9Y458	p.Asn478Asp	rs1014680559	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043257A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Phe479Leu	rs779885451	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043262C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser480Tyr	rs749491524	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043264C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Met481Thr	rs1490458896	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043267T>C	TOPMed
TBX22	Q9Y458	p.Pro482Thr	rs969874867	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043269C>A	TOPMed
TBX22	Q9Y458	p.Leu485Met	rs768802533	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043278C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ile486Val	rs1245730670	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043281A>G	gnomAD
TBX22	Q9Y458	p.Gly488Ser	rs897670250	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043287G>A	TOPMed
TBX22	Q9Y458	p.Gly488Asp	rs373265224	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043288G>A	ESP
TBX22	Q9Y458	p.Asp497Asn	rs761750322	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043314G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser498Thr	rs1204623529	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043318G>C	gnomAD
TBX22	Q9Y458	p.Val500Ile	rs377496944	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043323G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu504Lys	rs1466592835	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043335G>A	gnomAD
TBX22	Q9Y458	p.Gly505Val	rs773849952	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043339G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Lys506Glu	rs1366025063	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043341A>G	TOPMed
TBX22	Q9Y458	p.Cys507Arg	rs371101114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043344T>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Cys507Trp	rs759090332	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043346T>G	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Val510Ala	rs1405877376	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043354T>C	TOPMed
TBX22	Q9Y458	p.His511Arg	rs1380250965	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043357A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Trp512Ser	rs754291870	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043360G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Trp512Cys	rs374690782	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043361G>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Trp512Cys	rs374690782	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043361G>T	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro514Ser	rs764594284	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043365C>T	1000Genomes
TBX22	Q9Y458	p.Ala515Glu	rs201336957	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043369C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala515Glu	RCV000330393	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80031092C>A	ClinVar
TBX22	Q9Y458	p.His518Arg	rs756659631	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043378A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.His518Tyr	rs751233114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043377C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Leu520Val	rs1458690652	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043383C>G	gnomAD
TBX22	Q9Y458	p.Ala2Thr	rs750415957	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034550G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser4Asn	rs755916335	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034557G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser5Tyr	rs766283070	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034560C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg6Pro	rs551664098	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034563G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Arg6Leu	rs551664098	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034563G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Arg8Leu	rs915850492	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034569G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg8Cys	rs1450772358	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034568C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Phe10Ser	rs1300365859	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034575T>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser11Cys	rs1476956919	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034578C>G	gnomAD
TBX22	Q9Y458	p.Ser11Thr	rs150098741	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034577T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val16Ala	VAR_036066	Missense	-	-	UniProt
TBX22	Q9Y458	p.Gly17Trp	rs1193056525	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034595G>T	gnomAD
TBX22	Q9Y458	p.Gly17Glu	rs748304646	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034596G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg18Ile	rs1395804892	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034599G>T	gnomAD
TBX22	Q9Y458	p.Pro19His	rs758506603	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034602C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser20Ile	rs778207010	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034605G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Gln25Glu	rs771215994	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034619C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asp26His	rs781665863	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034622G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ile28Met	rs148838409	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034630A>G	ESP,ExAC
TBX22	Q9Y458	p.Ala30Val	rs768403428	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034635C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala30Glu	rs768403428	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034635C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu31Gln	rs761364666	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034637G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu35Gln	rs771728632	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034650T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg36Trp	rs917472096	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034652C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg36Gln	rs1223023604	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034653G>A	gnomAD
TBX22	Q9Y458	p.Glu37Lys	rs371055319	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034655G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Lys39Met	rs753716446	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034662A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Glu42Lys	rs759649828	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034670G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu43Lys	rs1381212092	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034673G>A	TOPMed
TBX22	Q9Y458	p.Glu45Lys	rs950279249	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034679G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu45Gly	rs1445755500	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034680A>G	gnomAD
TBX22	Q9Y458	p.Glu46Asp	rs765461432	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034684G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Arg48Ser	rs1378785446	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034690G>C	gnomAD
TBX22	Q9Y458	p.Ser49Thr	rs758412350	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034692G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ser49Arg	rs752888029	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034691A>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser50Asn	rs1361763002	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034695G>A	TOPMed
TBX22	Q9Y458	p.Ala51Thr	VAR_036067	Missense	-	-	UniProt
TBX22	Q9Y458	p.Ala52Ser	rs1385199095	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034700G>T	gnomAD
TBX22	Q9Y458	p.Gly53Glu	rs1331608078	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034704G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly53Ala	rs1331608078	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034704G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Ser55Ile	rs1339818189	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034710G>T	gnomAD
TBX22	Q9Y458	p.Ser55Arg	rs757815223	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034711C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Glu56Ter	rs104894945	stop gained	-	CHR_HSCHRX_2_CTG12:g.80034712G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu56Asp	rs1351169817	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034714G>C	gnomAD
TBX22	Q9Y458	p.Glu56Ter	RCV000012086	nonsense	Cleft palate with ankyloglossia	NC_000023.11:g.80022435G>T	ClinVar
TBX22	Q9Y458	p.Glu56Gln	rs104894945	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034712G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu56Asp	rs1351169817	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034714G>T	gnomAD
TBX22	Q9Y458	p.Pro57Arg	rs770084170	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034716C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Pro57Thr	rs781388378	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034715C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro57Ser	rs781388378	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034715C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro57Leu	rs770084170	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034716C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Leu58Phe	rs778577936	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034718C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Glu59Lys	rs747809017	missense variant	-	CHR_HSCHRX_2_CTG12:g.80034721G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gln61Lys	rs1328828965	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035342C>A	TOPMed
TBX22	Q9Y458	p.Pro62Arg	rs1402938365	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035346C>G	TOPMed
TBX22	Q9Y458	p.Thr64Ala	rs376071635	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035351A>G	ESP,ExAC,gnomAD
TBX22	Q9Y458	p.Thr68Ile	rs1355613525	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035364C>T	gnomAD
TBX22	Q9Y458	p.Ser69Pro	rs758173485	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035366T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Ala70Val	rs777388281	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035370C>T	ExAC
TBX22	Q9Y458	p.Ser72Phe	rs1171603763	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035376C>T	TOPMed
TBX22	Q9Y458	p.Gly73Asp	rs1461373694	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035379G>A	gnomAD
TBX22	Q9Y458	p.Cys74Arg	rs1298540656	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035381T>C	gnomAD
TBX22	Q9Y458	p.Asp77Asn	rs1423081813	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035390G>A	TOPMed
TBX22	Q9Y458	p.Ser78Asn	rs369384425	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035394G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr80Asn	rs776576140	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035399T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly81Arg	rs769623927	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035402G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly81Ser	rs769623927	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035402G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser83Cys	rs1205788287	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035408A>T	gnomAD
TBX22	Q9Y458	p.Ser84Cys	rs1487737018	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035412C>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Asp91Val	rs1456246678	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035433A>T	TOPMed
TBX22	Q9Y458	p.Asp91Tyr	rs764339429	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035432G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp91Asn	rs764339429	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035432G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ile92Thr	rs774586316	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035436T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Met94Val	rs1480550016	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035441A>G	gnomAD
TBX22	Q9Y458	p.Glu95Asp	rs1016944586	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035446G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly98Glu	rs1296394114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035454G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly98Val	rs1296394114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035454G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Leu101Met	rs1367758632	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035462C>A	TOPMed
TBX22	Q9Y458	p.Leu101Gln	rs137989876	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035463T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp107Gly	rs377085198	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035481A>G	ESP,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly109Arg	rs1379493336	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035486G>A	TOPMed
TBX22	Q9Y458	p.Ile113Met	rs1456235873	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035500C>G	gnomAD
TBX22	Q9Y458	p.Ala117Pro	rs369779825	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035510G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala117Thr	rs369779825	missense variant	-	CHR_HSCHRX_2_CTG12:g.80035510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly118Cys	rs104894944	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt,dbSNP
TBX22	Q9Y458	p.Gly118Cys	VAR_015383	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80023236G>T	UniProt
TBX22	Q9Y458	p.Gly118Cys	RCV000012083	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80023236G>T	ClinVar
TBX22	Q9Y458	p.Arg120Gly	rs1162711332	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036341C>G	gnomAD
TBX22	Q9Y458	p.Arg120Gln	rs1385589233	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036342G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Met121Val	VAR_021831	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Val125Ile	rs761944554	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036356G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Arg126Gln	rs201456134	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036360G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Lys128Asn	rs773214100	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036367G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Gly131Val	rs1431655517	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036375G>T	gnomAD
TBX22	Q9Y458	p.Pro134Thr	rs766953495	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036383C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Pro134Ser	rs766953495	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036383C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Tyr138His	rs759370678	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036395T>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.His139Tyr	rs765704978	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036398C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val140Leu	rs751216592	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036401G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp143Asn	rs1403650886	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036410G>A	TOPMed
TBX22	Q9Y458	p.Val145Met	rs1215959489	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036416G>A	gnomAD
TBX22	Q9Y458	p.Pro146Leu	rs756913403	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036420C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro146Arg	rs756913403	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036420C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val147Met	rs1182860071	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036422G>A	gnomAD
TBX22	Q9Y458	p.Ser149Phe	rs1446264071	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036429C>T	gnomAD
TBX22	Q9Y458	p.Lys150Gln	RCV000626748	missense variant	Cleft palate	NC_000023.11:g.80024154A>C	ClinVar
TBX22	Q9Y458	p.Lys150Gln	rs1156605251	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036431A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151His	rs368136178	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036435G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151Leu	rs368136178	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036435G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg151Cys	rs1407601790	missense variant	-	CHR_HSCHRX_2_CTG12:g.80036434C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Val155Ile	rs1470650923	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037884G>A	gnomAD
TBX22	Q9Y458	p.Val155Ala	rs1343056432	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037885T>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr156Cys	rs1423305487	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037888A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.His157Tyr	rs760190777	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037890C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ser158Arg	rs1177244637	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037893A>C	gnomAD
TBX22	Q9Y458	p.Gln160Arg	rs1185725124	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037900A>G	TOPMed
TBX22	Q9Y458	p.Val163Ala	rs765680258	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037909T>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr167Arg	rs1328608615	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037921C>G	gnomAD
TBX22	Q9Y458	p.His169Gln	rs1336674612	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037928T>A	gnomAD
TBX22	Q9Y458	p.Leu170Phe	rs761492404	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037931G>T	ExAC
TBX22	Q9Y458	p.Cys171Tyr	rs767034098	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037933G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ile172Leu	rs963408036	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037935A>C	TOPMed
TBX22	Q9Y458	p.Phe176Leu	rs755501455	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037947T>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Tyr177His	rs1222428638	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037950T>C	gnomAD
TBX22	Q9Y458	p.Val178Ala	rs1193114601	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037954T>C	TOPMed
TBX22	Q9Y458	p.Pro180Leu	rs779543847	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037960C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro183Thr	rs778648477	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037968C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Pro183Leu	VAR_021832	Missense	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Ser185Leu	RCV000302811	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025698C>T	ClinVar
TBX22	Q9Y458	p.Ser185Leu	rs765734398	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037975C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu187Lys	rs34244923	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037980G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu187Lys	RCV000364607	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80025703G>A	ClinVar
TBX22	Q9Y458	p.Thr188Ser	rs1431456050	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037983A>T	gnomAD
TBX22	Q9Y458	p.Arg191Gln	rs747262805	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037993G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg191Trp	rs993952750	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037992C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Arg191Leu	rs747262805	missense variant	-	CHR_HSCHRX_2_CTG12:g.80037993G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser195insSerSer	VAR_069900	duplication	Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400]	-	UniProt
TBX22	Q9Y458	p.Asp197Gly	rs1398927099	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038011A>G	TOPMed
TBX22	Q9Y458	p.Arg198His	rs200542790	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038014G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg198Leu	rs200542790	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038014G>T	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg198Ser	rs776905471	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038013C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Met199Val	rs770461385	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038016A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Met199Ile	rs1403879065	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038018G>A	gnomAD
TBX22	Q9Y458	p.Asn203Ser	rs776093447	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038029A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asp207Val	rs763177430	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038041A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Asp208Gly	rs1224588185	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038044A>G	gnomAD
TBX22	Q9Y458	p.Gly210Asp	rs772672988	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038050G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly210Ser	rs764530704	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038049G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Gly210Ala	rs772672988	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038050G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Leu214Pro	rs104894946	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt,dbSNP
TBX22	Q9Y458	p.Leu214Pro	VAR_021829	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026711T>C	UniProt
TBX22	Q9Y458	p.Leu214Pro	RCV000012087	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026711T>C	ClinVar
TBX22	Q9Y458	p.Gln215His	rs747225015	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038992A>T	ExAC,gnomAD
TBX22	Q9Y458	p.His218Asn	rs757598908	missense variant	-	CHR_HSCHRX_2_CTG12:g.80038999C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr220Asp	rs1449258747	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039005T>G	gnomAD
TBX22	Q9Y458	p.Pro222Thr	rs781385178	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039011C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Val224Met	rs1445663868	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039017G>A	gnomAD
TBX22	Q9Y458	p.His225Tyr	rs141355013	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039020C>T	ESP,TOPMed,gnomAD
TBX22	Q9Y458	p.Val226Met	rs775801815	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039023G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu228Lys	rs368794829	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039029G>A	ESP,TOPMed
TBX22	Q9Y458	p.Gly230Asp	rs749803887	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039036G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ser232Asn	rs1298302616	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039042G>A	TOPMed
TBX22	Q9Y458	p.Val233Ile	rs370372482	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039044G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp234Glu	rs774836026	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039049C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser236Phe	rs1305092063	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039054C>T	TOPMed
TBX22	Q9Y458	p.Gln237Pro	rs992907062	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039057A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro242Thr	rs765976780	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039071C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Thr243Ser	rs1316821118	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039074A>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Thr243Ala	rs1316821118	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039074A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly245Asp	rs1238545711	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039081G>A	gnomAD
TBX22	Q9Y458	p.Phe249Tyr	VAR_069416	Missense	-	-	UniProt
TBX22	Q9Y458	p.Glu255Gly	rs758990043	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039111A>G	ExAC
TBX22	Q9Y458	p.Thr257Ile	rs764811230	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039117C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr257Ser	rs764811230	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039117C>G	ExAC,gnomAD
TBX22	Q9Y458	p.Thr258Ile	rs758424012	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039120C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr260Met	RCV000012082	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026849C>T	ClinVar
TBX22	Q9Y458	p.Thr260Met	rs104894943	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt,dbSNP
TBX22	Q9Y458	p.Thr260Met	VAR_015384	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026849C>T	UniProt
TBX22	Q9Y458	p.Asn264Tyr	RCV000012089	missense variant	Cleft palate with ankyloglossia	NC_000023.11:g.80026860A>T	ClinVar
TBX22	Q9Y458	p.Asn264Tyr	rs28935177	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt,dbSNP
TBX22	Q9Y458	p.Asn264Tyr	VAR_021830	missense variant	Cleft palate with or without ankyloglossia, X-linked (CPX)	NC_000023.11:g.80026860A>T	UniProt
TBX22	Q9Y458	p.Ile267Phe	rs759255355	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039533A>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ile267Val	rs759255355	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039533A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Lys	rs769176901	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039537C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Met	rs769176901	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039537C>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Thr268Arg	rs769176901	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039537C>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu273Gly	rs1206744172	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039552A>G	TOPMed
TBX22	Q9Y458	p.Pro276Thr	rs764049245	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039560C>A	ExAC
TBX22	Q9Y458	p.Lys279Glu	rs1480540426	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039569A>G	gnomAD
TBX22	Q9Y458	p.Asp283Tyr	rs1304491827	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039581G>T	gnomAD
TBX22	Q9Y458	p.Arg288Met	rs767423228	missense variant	-	CHR_HSCHRX_2_CTG12:g.80039597G>T	ExAC
TBX22	Q9Y458	p.Gly289Val	rs1253379406	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040270G>T	gnomAD
TBX22	Q9Y458	p.Leu291Phe	rs762472993	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040277G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Gly293Arg	rs960682849	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040281G>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Leu295Phe	rs1428441084	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040289A>C	TOPMed
TBX22	Q9Y458	p.Pro299Ser	rs1259647651	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040299C>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Trp300Arg	rs371749262	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040302T>C	ExAC,gnomAD
TBX22	Q9Y458	p.Trp300Ter	RCV000523410	nonsense	-	NC_000023.11:g.80028026G>A	ClinVar
TBX22	Q9Y458	p.Leu306Ile	rs1490265878	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040320C>A	gnomAD
TBX22	Q9Y458	p.Asp307Asn	rs750292974	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040323G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Asp307Asn	rs750292974	missense variant	-	NC_000023.11:g.80028046G>A	UniProt,dbSNP
TBX22	Q9Y458	p.Asp307Asn	VAR_036068	missense variant	-	NC_000023.11:g.80028046G>A	UniProt
TBX22	Q9Y458	p.Lys309Thr	rs990805395	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040330A>C	TOPMed
TBX22	Q9Y458	p.Thr310Ile	rs1320848821	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040333C>T	TOPMed
TBX22	Q9Y458	p.Ala313Thr	rs527984602	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040341G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Asp314Gly	rs767569061	missense variant	-	CHR_HSCHRX_2_CTG12:g.80040345A>G	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly318Arg	rs751915345	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042777G>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly318Arg	rs751915345	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042777G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Gly321Asp	rs1029502810	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042787G>A	TOPMed
TBX22	Q9Y458	p.Gly321Ser	rs757798692	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042786G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser323Thr	rs752017317	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042792T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Val325Leu	rs781651154	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042798G>C	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Thr326Ser	rs1052677632	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042801A>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Gly329Arg	rs1459916896	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042810G>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro332Ser	rs1237797145	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042819C>T	gnomAD
TBX22	Q9Y458	p.Ser337Thr	rs781474415	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042834T>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser337Phe	rs1175746187	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042835C>T	gnomAD
TBX22	Q9Y458	p.Phe344Leu	rs1407487643	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042855T>C	gnomAD
TBX22	Q9Y458	p.Pro346Arg	rs1030946293	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042862C>G	gnomAD
TBX22	Q9Y458	p.Pro346Leu	rs1030946293	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042862C>T	gnomAD
TBX22	Q9Y458	p.Met347Val	rs372948739	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042864A>G	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu350Phe	rs1469682502	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042875A>T	gnomAD
TBX22	Q9Y458	p.Pro351Ser	rs778535394	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042876C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Thr352Ile	rs1470640756	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042880C>T	TOPMed
TBX22	Q9Y458	p.Thr352Ala	rs747613335	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042879A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Leu355Phe	rs1440442525	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042888C>T	gnomAD
TBX22	Q9Y458	p.Met357Val	rs374765772	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042894A>G	ESP,TOPMed
TBX22	Q9Y458	p.Pro358Thr	rs1277452059	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042897C>A	gnomAD
TBX22	Q9Y458	p.Cys359Arg	rs369127582	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042900T>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Cys359Ser	rs369127582	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042900T>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr363Cys	rs746987550	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042913A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Leu364Pro	rs1202905184	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042916T>C	gnomAD
TBX22	Q9Y458	p.Pro365His	rs916621625	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042919C>A	TOPMed
TBX22	Q9Y458	p.Asn366Ser	rs769725713	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042922A>G	1000Genomes
TBX22	Q9Y458	p.Val367Gly	rs1279217597	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042925T>G	gnomAD
TBX22	Q9Y458	p.Pro370Leu	rs1202172633	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042934C>T	gnomAD
TBX22	Q9Y458	p.Cys372Tyr	rs765407594	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042940G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Cys372Arg	rs948170365	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042939T>C	TOPMed
TBX22	Q9Y458	p.Tyr373Cys	rs775706886	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042943A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Cys376Phe	rs982648449	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042952G>T	TOPMed,gnomAD
TBX22	Q9Y458	p.Thr378Ser	rs887597789	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042957A>T	TOPMed
TBX22	Q9Y458	p.Asn379His	rs1177856114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042960A>C	gnomAD
TBX22	Q9Y458	p.Asn379Ile	rs762959263	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042961A>T	ExAC,gnomAD
TBX22	Q9Y458	p.Phe380Ser	rs764159886	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042964T>C	ExAC
TBX22	Q9Y458	p.Trp381Leu	rs752099645	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042967G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Trp381Cys	rs1014775367	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042968G>C	TOPMed
TBX22	Q9Y458	p.Trp381Ter	rs1014775367	stop gained	-	CHR_HSCHRX_2_CTG12:g.80042968G>A	TOPMed
TBX22	Q9Y458	p.Gln384Lys	rs1353576298	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042975C>A	gnomAD
TBX22	Q9Y458	p.Pro385Ser	rs767900601	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042978C>T	ExAC
TBX22	Q9Y458	p.Leu388Phe	rs1343152462	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042989A>C	TOPMed,gnomAD
TBX22	Q9Y458	p.Pro389Leu	rs756577621	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042991C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ala390Thr	rs189969457	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042993G>A	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Ala390Asp	rs141303126	missense variant	-	CHR_HSCHRX_2_CTG12:g.80042994C>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala395Thr	rs992049559	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043008G>A	TOPMed
TBX22	Q9Y458	p.Ser397Arg	rs940977409	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043016C>A	TOPMed,gnomAD
TBX22	Q9Y458	p.Asn398Ser	rs1207504606	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043018A>G	gnomAD
TBX22	Q9Y458	p.Pro405Leu	rs1025023287	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043039C>T	TOPMed
TBX22	Q9Y458	p.Met408Thr	rs1412033085	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043048T>C	TOPMed
TBX22	Q9Y458	p.Met408Arg	rs1412033085	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043048T>G	TOPMed
TBX22	Q9Y458	p.Glu409Gly	rs1490218662	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043051A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Val410Met	rs1199668767	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043053G>A	gnomAD
TBX22	Q9Y458	p.Pro411Arg	rs969121159	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043057C>G	TOPMed
TBX22	Q9Y458	p.Met412Thr	rs1249027829	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043060T>C	gnomAD
TBX22	Q9Y458	p.Gly417Val	rs770817802	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043075G>T	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Val418Leu	rs1167726911	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043077G>C	gnomAD
TBX22	Q9Y458	p.Val418Phe	rs1167726911	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043077G>T	gnomAD
TBX22	Q9Y458	p.Val418Ile	rs1167726911	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043077G>A	gnomAD
TBX22	Q9Y458	p.Gly424Ser	rs773209426	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043095G>A	1000Genomes,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser426Cys	rs936807563	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043102C>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Glu427Lys	rs1363320972	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043104G>A	gnomAD
TBX22	Q9Y458	p.Ser430Asn	rs769585668	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043114G>A	ExAC,gnomAD
TBX22	Q9Y458	p.Asp431Glu	rs763224704	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043118T>A	ExAC,gnomAD
TBX22	Q9Y458	p.Tyr433Ser	rs145861460	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043123A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Tyr433Cys	rs145861460	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043123A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala436Val	rs767870694	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043132C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Pro437Ser	rs750980922	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043134C>T	ExAC
TBX22	Q9Y458	p.Asn438Asp	rs761055625	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043137A>G	ExAC,gnomAD
TBX22	Q9Y458	p.Asn441Ser	rs766918607	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043147A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Met443Ile	rs774880507	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043154G>A	gnomAD
TBX22	Q9Y458	p.Asn457Asp	rs1041301641	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043194A>G	TOPMed
TBX22	Q9Y458	p.Ser458Cys	rs1165036733	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043198C>G	gnomAD
TBX22	Q9Y458	p.Ser458Pro	rs1288986462	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043197T>C	TOPMed
TBX22	Q9Y458	p.Ile459Val	rs1249151692	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043200A>G	gnomAD
TBX22	Q9Y458	p.Pro461Ser	rs1451795165	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043206C>T	gnomAD
TBX22	Q9Y458	p.Pro461Leu	rs1348703924	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043207C>T	TOPMed
TBX22	Q9Y458	p.Ala463Thr	rs113672075	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043212G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ala463Pro	rs113672075	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043212G>C	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser465Ile	rs756809972	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043219G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Ser465Arg	rs750989813	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043218A>C	ExAC,gnomAD
TBX22	Q9Y458	p.Cys466Arg	rs780937825	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043221T>C	ExAC
TBX22	Q9Y458	p.Cys466Phe	rs1166970843	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043222G>T	TOPMed
TBX22	Q9Y458	p.Ser471Phe	RCV000277730	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80030960C>T	ClinVar
TBX22	Q9Y458	p.Tyr472Ter	rs1420275916	stop gained	-	CHR_HSCHRX_2_CTG12:g.80043241T>A	TOPMed
TBX22	Q9Y458	p.Asp473Tyr	rs1428508258	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043242G>T	gnomAD
TBX22	Q9Y458	p.Tyr475Phe	rs148996612	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043249A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Arg476Thr	rs1398432972	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043252G>C	gnomAD
TBX22	Q9Y458	p.Tyr477Ter	rs1488086366	stop gained	-	CHR_HSCHRX_2_CTG12:g.80043256C>G	TOPMed
TBX22	Q9Y458	p.Asn478Asp	rs1014680559	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043257A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Phe479Leu	rs779885451	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043262C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser480Tyr	rs749491524	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043264C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Met481Thr	rs1490458896	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043267T>C	TOPMed
TBX22	Q9Y458	p.Pro482Thr	rs969874867	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043269C>A	TOPMed
TBX22	Q9Y458	p.Leu485Met	rs768802533	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043278C>A	ExAC,gnomAD
TBX22	Q9Y458	p.Ile486Val	rs1245730670	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043281A>G	gnomAD
TBX22	Q9Y458	p.Gly488Asp	rs373265224	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043288G>A	ESP
TBX22	Q9Y458	p.Gly488Ser	rs897670250	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043287G>A	TOPMed
TBX22	Q9Y458	p.Asp497Asn	rs761750322	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043314G>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Ser498Thr	rs1204623529	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043318G>C	gnomAD
TBX22	Q9Y458	p.Val500Ile	rs377496944	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043323G>A	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Glu504Lys	rs1466592835	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043335G>A	gnomAD
TBX22	Q9Y458	p.Gly505Val	rs773849952	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043339G>T	ExAC,gnomAD
TBX22	Q9Y458	p.Lys506Glu	rs1366025063	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043341A>G	TOPMed
TBX22	Q9Y458	p.Cys507Arg	rs371101114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043344T>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Cys507Trp	rs759090332	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043346T>G	1000Genomes,ExAC,gnomAD
TBX22	Q9Y458	p.Val510Ala	rs1405877376	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043354T>C	TOPMed
TBX22	Q9Y458	p.His511Arg	rs1380250965	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043357A>G	TOPMed,gnomAD
TBX22	Q9Y458	p.Trp512Ser	rs754291870	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043360G>C	ExAC,gnomAD
TBX22	Q9Y458	p.Trp512Cys	rs374690782	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043361G>C	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Trp512Cys	rs374690782	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043361G>T	ESP,ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.Pro514Ser	rs764594284	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043365C>T	1000Genomes
TBX22	Q9Y458	p.Ala515Glu	RCV000330393	missense variant	Cleft palate X-linked (CPX)	NC_000023.11:g.80031092C>A	ClinVar
TBX22	Q9Y458	p.Ala515Glu	rs201336957	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043369C>A	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.His518Arg	rs756659631	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043378A>G	ExAC,TOPMed,gnomAD
TBX22	Q9Y458	p.His518Tyr	rs751233114	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043377C>T	ExAC,gnomAD
TBX22	Q9Y458	p.Leu520Val	rs1458690652	missense variant	-	CHR_HSCHRX_2_CTG12:g.80043383C>G	gnomAD
PLXND1	Q9Y4D7	p.Pro3Leu	rs1260240365	missense variant	-	NC_000003.12:g.129606632G>A	TOPMed
PLXND1	Q9Y4D7	p.Arg4Gly	rs963148037	missense variant	-	NC_000003.12:g.129606630G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg4Cys	rs963148037	missense variant	-	NC_000003.12:g.129606630G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala6Glu	rs1480312019	missense variant	-	NC_000003.12:g.129606623G>T	TOPMed
PLXND1	Q9Y4D7	p.Gly8Ser	rs1303859961	missense variant	-	NC_000003.12:g.129606618C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro10Arg	rs1157687213	missense variant	-	NC_000003.12:g.129606611G>C	TOPMed
PLXND1	Q9Y4D7	p.Leu11Phe	rs1345242409	missense variant	-	NC_000003.12:g.129606609G>A	TOPMed
PLXND1	Q9Y4D7	p.Ser12Arg	rs1454942801	missense variant	-	NC_000003.12:g.129606604G>T	TOPMed
PLXND1	Q9Y4D7	p.Ala13Pro	rs1301198264	missense variant	-	NC_000003.12:g.129606603C>G	TOPMed
PLXND1	Q9Y4D7	p.Arg14Gln	rs1364953462	missense variant	-	NC_000003.12:g.129606599C>T	TOPMed
PLXND1	Q9Y4D7	p.Ala18Thr	rs1222310450	missense variant	-	NC_000003.12:g.129606588C>T	TOPMed
PLXND1	Q9Y4D7	p.Ser19Arg	rs1373965511	missense variant	-	NC_000003.12:g.129606583G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro21Gln	rs1317568965	missense variant	-	NC_000003.12:g.129606578G>T	TOPMed
PLXND1	Q9Y4D7	p.Pro21Ser	rs1160977926	missense variant	-	NC_000003.12:g.129606579G>A	gnomAD
PLXND1	Q9Y4D7	p.Thr25Arg	rs1169498636	missense variant	-	NC_000003.12:g.129606566G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr25Met	rs1169498636	missense variant	-	NC_000003.12:g.129606566G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro26Ala	rs1420799602	missense variant	-	NC_000003.12:g.129606564G>C	gnomAD
PLXND1	Q9Y4D7	p.Pro30Arg	rs778631621	missense variant	-	NC_000003.12:g.129606551G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro30Leu	rs778631621	missense variant	-	NC_000003.12:g.129606551G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val31Met	rs754519108	missense variant	-	NC_000003.12:g.129606549C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro32Leu	rs753372701	missense variant	-	NC_000003.12:g.129606545G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro32Gln	rs753372701	missense variant	-	NC_000003.12:g.129606545G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly40Arg	rs750256010	missense variant	-	NC_000003.12:g.129606522C>T	ExAC
PLXND1	Q9Y4D7	p.Ala41Thr	rs767416969	missense variant	-	NC_000003.12:g.129606519C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala42Thr	rs1255058227	missense variant	-	NC_000003.12:g.129606516C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala42Val	rs761800341	missense variant	-	NC_000003.12:g.129606515G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg43Pro	rs768557084	missense variant	-	NC_000003.12:g.129606512C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg43Gln	rs768557084	missense variant	-	NC_000003.12:g.129606512C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly45Cys	rs1354295888	missense variant	-	NC_000003.12:g.129606507C>A	gnomAD
PLXND1	Q9Y4D7	p.Leu47Gln	rs775527662	missense variant	-	NC_000003.12:g.129606500A>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu47GlyPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.129606501_129606502insGGCGCCGGCC	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu48Asp	rs1425245933	missense variant	-	NC_000003.12:g.129606496C>G	TOPMed
PLXND1	Q9Y4D7	p.Glu48Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129606498C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Ile49Val	rs1227083211	missense variant	-	NC_000003.12:g.129606495T>C	gnomAD
PLXND1	Q9Y4D7	p.Gln50His	rs1352513765	missense variant	-	NC_000003.12:g.129606490C>G	TOPMed
PLXND1	Q9Y4D7	p.Arg51Cys	rs770086679	missense variant	-	NC_000003.12:g.129606489G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg52Leu	rs1288431822	missense variant	-	NC_000003.12:g.129606485C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro54Ser	rs746188556	missense variant	-	NC_000003.12:g.129606480G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser55Ter	rs1374332054	stop gained	-	NC_000003.12:g.129606476G>T	TOPMed
PLXND1	Q9Y4D7	p.Thr59Ile	rs781724372	missense variant	-	NC_000003.12:g.129606464G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn61Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129606458T>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala63Thr	rs771559022	missense variant	-	NC_000003.12:g.129606453C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu64Met	rs754395648	missense variant	-	NC_000003.12:g.129606450G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala67Val	rs1183008464	missense variant	-	NC_000003.12:g.129606440G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala67Ser	rs1412539640	missense variant	-	NC_000003.12:g.129606441C>A	gnomAD
PLXND1	Q9Y4D7	p.Ala68Thr	rs1248769953	missense variant	-	NC_000003.12:g.129606438C>T	gnomAD
PLXND1	Q9Y4D7	p.Thr70Ser	rs1195413215	missense variant	-	NC_000003.12:g.129606431G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val71Met	rs1458821734	missense variant	-	NC_000003.12:g.129606429C>T	TOPMed
PLXND1	Q9Y4D7	p.Tyr72Ter	rs767369760	stop gained	-	NC_000003.12:g.129606424G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala75Val	rs1401198801	missense variant	-	NC_000003.12:g.129606416G>A	gnomAD
PLXND1	Q9Y4D7	p.Val76Ile	rs1334779973	missense variant	-	NC_000003.12:g.129606414C>T	gnomAD
PLXND1	Q9Y4D7	p.Val76Leu	rs1334779973	missense variant	-	NC_000003.12:g.129606414C>G	gnomAD
PLXND1	Q9Y4D7	p.Val76Ala	rs1289507835	missense variant	-	NC_000003.12:g.129606413A>G	gnomAD
PLXND1	Q9Y4D7	p.Asn77Thr	rs751444874	missense variant	-	NC_000003.12:g.129606410T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asn77His	rs1229765295	missense variant	-	NC_000003.12:g.129606411T>G	gnomAD
PLXND1	Q9Y4D7	p.Tyr80His	rs764117806	missense variant	-	NC_000003.12:g.129606402A>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr80Cys	rs531174147	missense variant	-	NC_000003.12:g.129606401T>C	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser83Trp	rs1369240984	missense variant	-	NC_000003.12:g.129606392G>C	gnomAD
PLXND1	Q9Y4D7	p.Gly84Val	rs1417364628	missense variant	-	NC_000003.12:g.129606389C>A	TOPMed
PLXND1	Q9Y4D7	p.Leu87Met	rs1389364359	missense variant	-	NC_000003.12:g.129606381G>T	gnomAD
PLXND1	Q9Y4D7	p.Leu89Pro	rs776995725	missense variant	-	NC_000003.12:g.129606374A>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu90Gln	rs771362596	missense variant	-	NC_000003.12:g.129606372C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala91Val	rs1181117334	missense variant	-	NC_000003.12:g.129606368G>A	gnomAD
PLXND1	Q9Y4D7	p.Glu92Ala	rs773547941	missense variant	-	NC_000003.12:g.129606365T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu92Gln	rs1269662123	missense variant	-	NC_000003.12:g.129606366C>G	gnomAD
PLXND1	Q9Y4D7	p.Ala93Glu	rs1449322593	missense variant	-	NC_000003.12:g.129606362G>T	TOPMed
PLXND1	Q9Y4D7	p.Ala94Val	rs1269362763	missense variant	-	NC_000003.12:g.129606359G>A	gnomAD
PLXND1	Q9Y4D7	p.Val95Met	rs1382102748	missense variant	-	NC_000003.12:g.129606357C>T	TOPMed
PLXND1	Q9Y4D7	p.Val98Met	rs755720909	missense variant	-	NC_000003.12:g.129606348C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val98Gly	rs1313606003	missense variant	-	NC_000003.12:g.129606347A>C	gnomAD
PLXND1	Q9Y4D7	p.Pro102Leu	rs1439983256	missense variant	-	NC_000003.12:g.129606335G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His105Tyr	rs1214289026	missense variant	-	NC_000003.12:g.129606327G>A	TOPMed
PLXND1	Q9Y4D7	p.His105Tyr	rs1214289026	missense variant	-	NC_000003.12:g.129606327G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.His105Gln	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129606325G>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala106Ser	rs1380481569	missense variant	-	NC_000003.12:g.129606324C>A	gnomAD
PLXND1	Q9Y4D7	p.Ala106Val	rs1384069840	missense variant	-	NC_000003.12:g.129606323G>A	gnomAD
PLXND1	Q9Y4D7	p.Pro110Gln	rs548908802	missense variant	-	NC_000003.12:g.129606311G>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro110Leu	rs548908802	missense variant	-	NC_000003.12:g.129606311G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala112Thr	rs1171972581	missense variant	-	NC_000003.12:g.129606306C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala112Gly	rs1415454890	missense variant	-	NC_000003.12:g.129606305G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu115Lys	rs1262172553	missense variant	-	NC_000003.12:g.129606297C>T	TOPMed
PLXND1	Q9Y4D7	p.His116Gln	rs763907195	missense variant	-	NC_000003.12:g.129606292G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro117Ser	rs758411946	missense variant	-	NC_000003.12:g.129606291G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg118Trp	rs752707971	missense variant	-	NC_000003.12:g.129606288G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg118Gly	rs752707971	missense variant	-	NC_000003.12:g.129606288G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg119His	rs1445783177	missense variant	-	NC_000003.12:g.129606284C>T	gnomAD
PLXND1	Q9Y4D7	p.Arg119Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129606285G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Tyr124Cys	rs529666455	missense variant	-	NC_000003.12:g.129606269T>C	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys126Asn	rs1346506750	missense variant	-	NC_000003.12:g.129606262C>A	gnomAD
PLXND1	Q9Y4D7	p.Lys126Arg	rs976714986	missense variant	-	NC_000003.12:g.129606263T>C	gnomAD
PLXND1	Q9Y4D7	p.Ile127Met	rs759699766	missense variant	-	NC_000003.12:g.129606259G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln129Leu	rs1174533835	missense variant	-	NC_000003.12:g.129606254T>A	TOPMed
PLXND1	Q9Y4D7	p.Gln129Lys	rs370289454	missense variant	-	NC_000003.12:g.129606255G>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp131Asn	rs1342374683	missense variant	-	NC_000003.12:g.129606249C>T	gnomAD
PLXND1	Q9Y4D7	p.Pro132Ser	rs1299585652	missense variant	-	NC_000003.12:g.129606246G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly133Ser	rs761086539	missense variant	-	NC_000003.12:g.129606243C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly135Ala	rs773670982	missense variant	-	NC_000003.12:g.129606236C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly135Val	rs773670982	missense variant	-	NC_000003.12:g.129606236C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly135Cys	rs1334737721	missense variant	-	NC_000003.12:g.129606237C>A	gnomAD
PLXND1	Q9Y4D7	p.Val137Ile	rs1311085484	missense variant	-	NC_000003.12:g.129606231C>T	gnomAD
PLXND1	Q9Y4D7	p.Val137Glu	rs1336256981	missense variant	-	NC_000003.12:g.129606230A>T	TOPMed
PLXND1	Q9Y4D7	p.Val138Ile	rs1390951517	missense variant	-	NC_000003.12:g.129606228C>T	gnomAD
PLXND1	Q9Y4D7	p.Ile143Val	rs377413187	missense variant	-	NC_000003.12:g.129606213T>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Phe147Leu	rs1254805265	missense variant	-	NC_000003.12:g.129606199G>T	gnomAD
PLXND1	Q9Y4D7	p.Phe147Leu	rs1254805265	missense variant	-	NC_000003.12:g.129606199G>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Cys148Ter	rs1483186110	stop gained	-	NC_000003.12:g.129606196G>T	gnomAD
PLXND1	Q9Y4D7	p.Cys148Tyr	rs1209479681	missense variant	-	NC_000003.12:g.129606197C>T	gnomAD
PLXND1	Q9Y4D7	p.Arg152Ser	rs1276318098	missense variant	-	NC_000003.12:g.129606186G>T	gnomAD
PLXND1	Q9Y4D7	p.Arg152His	rs541086419	missense variant	-	NC_000003.12:g.129606185C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg152Leu	rs541086419	missense variant	-	NC_000003.12:g.129606185C>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg153Gln	rs1284756688	missense variant	-	NC_000003.12:g.129606182C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg153Gly	rs904188532	missense variant	-	NC_000003.12:g.129606183G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly154Ser	rs756944363	missense variant	-	NC_000003.12:g.129606180C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile156Val	rs1323825887	missense variant	-	NC_000003.12:g.129606174T>C	TOPMed
PLXND1	Q9Y4D7	p.Ala158Thr	rs1414188227	missense variant	-	NC_000003.12:g.129606168C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala158Ser	rs1414188227	missense variant	-	NC_000003.12:g.129606168C>A	gnomAD
PLXND1	Q9Y4D7	p.Ala158Val	rs1371468766	missense variant	-	NC_000003.12:g.129606167G>A	gnomAD
PLXND1	Q9Y4D7	p.Val161Leu	rs1408616227	missense variant	-	NC_000003.12:g.129606159C>G	gnomAD
PLXND1	Q9Y4D7	p.Arg162Ser	rs1219631844	missense variant	-	NC_000003.12:g.129606156G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg162Gly	rs1219631844	missense variant	-	NC_000003.12:g.129606156G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala167Pro	rs1265324340	missense variant	-	NC_000003.12:g.129606141C>G	TOPMed
PLXND1	Q9Y4D7	p.Ala170Gly	rs1416245511	missense variant	-	NC_000003.12:g.129606131G>C	gnomAD
PLXND1	Q9Y4D7	p.Pro172Ser	rs1186672632	missense variant	-	NC_000003.12:g.129606126G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro172Leu	rs1472629494	missense variant	-	NC_000003.12:g.129606125G>A	gnomAD
PLXND1	Q9Y4D7	p.Val173Ile	rs1201975559	missense variant	-	NC_000003.12:g.129606123C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val173Leu	rs1201975559	missense variant	-	NC_000003.12:g.129606123C>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val175Leu	rs752620942	missense variant	-	NC_000003.12:g.129606117C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser178Gly	rs778736878	missense variant	-	NC_000003.12:g.129606108T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asn181Ser	rs755069383	missense variant	-	NC_000003.12:g.129606098T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val182Met	rs1232825860	missense variant	-	NC_000003.12:g.129606096C>T	gnomAD
PLXND1	Q9Y4D7	p.Val182AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.129606095_129606096insAGGAG	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala184Thr	rs1281540526	missense variant	-	NC_000003.12:g.129606090C>T	gnomAD
PLXND1	Q9Y4D7	p.Val195Ile	rs761033342	missense variant	-	NC_000003.12:g.129606057C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val195Ala	rs750746281	missense variant	-	NC_000003.12:g.129606056A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro198Ser	rs1409550860	missense variant	-	NC_000003.12:g.129606048G>A	gnomAD
PLXND1	Q9Y4D7	p.Pro198Leu	rs866799715	missense variant	-	NC_000003.12:g.129606047G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala200Thr	rs762099940	missense variant	-	NC_000003.12:g.129606042C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala202Thr	rs576936448	missense variant	-	NC_000003.12:g.129606036C>T	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly204Ser	rs769185921	missense variant	-	NC_000003.12:g.129606030C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg206Ser	rs1460630165	missense variant	-	NC_000003.12:g.129606024G>T	gnomAD
PLXND1	Q9Y4D7	p.Leu208Phe	rs759016421	missense variant	-	NC_000003.12:g.129606018G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val209Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129606015C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Gly210Val	rs776168438	missense variant	-	NC_000003.12:g.129606011C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala211Val	rs1349317894	missense variant	-	NC_000003.12:g.129606008G>A	TOPMed
PLXND1	Q9Y4D7	p.Thr212Lys	rs1350246913	missense variant	-	NC_000003.12:g.129606005G>T	gnomAD
PLXND1	Q9Y4D7	p.Thr214Asn	rs910538669	missense variant	-	NC_000003.12:g.129605999G>T	gnomAD
PLXND1	Q9Y4D7	p.Thr214Ser	rs910538669	missense variant	-	NC_000003.12:g.129605999G>C	gnomAD
PLXND1	Q9Y4D7	p.Gly215Arg	rs770559793	missense variant	-	NC_000003.12:g.129605997C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Tyr216Cys	rs1287996730	missense variant	-	NC_000003.12:g.129605993T>C	TOPMed
PLXND1	Q9Y4D7	p.Gly217Ser	rs1325591539	missense variant	-	NC_000003.12:g.129605991C>T	gnomAD
PLXND1	Q9Y4D7	p.Gly217Asp	rs920158012	missense variant	-	NC_000003.12:g.129605990C>T	TOPMed
PLXND1	Q9Y4D7	p.Ser218Ile	rs1436499601	missense variant	-	NC_000003.12:g.129605987C>A	gnomAD
PLXND1	Q9Y4D7	p.Ser218Arg	rs777303394	missense variant	-	NC_000003.12:g.129605986G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Phe221Leu	rs1190974444	missense variant	-	NC_000003.12:g.129605979A>G	gnomAD
PLXND1	Q9Y4D7	p.Arg223His	rs1269369341	missense variant	-	NC_000003.12:g.129605972C>T	TOPMed
PLXND1	Q9Y4D7	p.Asn224Thr	rs771848852	missense variant	-	NC_000003.12:g.129605969T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg225Cys	rs1399605966	missense variant	-	NC_000003.12:g.129605967G>A	gnomAD
PLXND1	Q9Y4D7	p.Arg225Leu	rs747925447	missense variant	-	NC_000003.12:g.129605966C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.His230Tyr	rs1201248968	missense variant	-	NC_000003.12:g.129605952G>A	TOPMed
PLXND1	Q9Y4D7	p.Arg231His	rs753949955	missense variant	-	NC_000003.12:g.129605948C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Phe232SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.129605921_129605945ATGGCGATCTCGGGCGTGTTCTCGA>-	NCI-TCGA
PLXND1	Q9Y4D7	p.Phe232Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129605944G>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu233Asp	COSM3427039	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129605941C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Thr235Met	rs1486810697	missense variant	-	NC_000003.12:g.129605936G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala239Thr	rs1240227129	missense variant	-	NC_000003.12:g.129605925C>T	gnomAD
PLXND1	Q9Y4D7	p.Arg241Cys	rs1213813427	missense variant	-	NC_000003.12:g.129605919G>A	gnomAD
PLXND1	Q9Y4D7	p.Arg241Cys	rs1213813427	missense variant	-	NC_000003.12:g.129605919G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Ser242Phe	rs756264701	missense variant	-	NC_000003.12:g.129605915G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser242Ala	rs780344713	missense variant	-	NC_000003.12:g.129605916A>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser242Tyr	rs756264701	missense variant	-	NC_000003.12:g.129605915G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp244Asn	rs1303131530	missense variant	-	NC_000003.12:g.129605910C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg246Pro	rs543209942	missense variant	-	NC_000003.12:g.129605903C>G	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg246Ser	rs201381915	missense variant	-	NC_000003.12:g.129605904G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg246Cys	rs201381915	missense variant	-	NC_000003.12:g.129605904G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly247Ser	rs1429467996	missense variant	-	NC_000003.12:g.129605901C>T	gnomAD
PLXND1	Q9Y4D7	p.Asp248Asn	rs1359218411	missense variant	-	NC_000003.12:g.129605898C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala250Thr	rs1432513227	missense variant	-	NC_000003.12:g.129605892C>T	gnomAD
PLXND1	Q9Y4D7	p.Lys251Asn	COSM479402	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129605887C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Phe253Tyr	rs1169003875	missense variant	-	NC_000003.12:g.129605882A>T	gnomAD
PLXND1	Q9Y4D7	p.Asp256Asn	rs760123698	missense variant	-	NC_000003.12:g.129605874C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp256Glu	rs772880149	missense variant	-	NC_000003.12:g.129605872G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu257Phe	rs1258354760	missense variant	-	NC_000003.12:g.129605871G>A	gnomAD
PLXND1	Q9Y4D7	p.Asn258Ser	rs1484819967	missense variant	-	NC_000003.12:g.129605867T>C	gnomAD
PLXND1	Q9Y4D7	p.Asp262Tyr	rs768707128	missense variant	-	NC_000003.12:g.129605856C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu265Val	rs780156510	missense variant	-	NC_000003.12:g.129605847G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile267Met	rs1245112959	missense variant	-	NC_000003.12:g.129605839G>C	TOPMed
PLXND1	Q9Y4D7	p.Ile267Val	rs1199445567	missense variant	-	NC_000003.12:g.129605841T>C	gnomAD
PLXND1	Q9Y4D7	p.Lys268Glu	rs1339148882	missense variant	-	NC_000003.12:g.129605838T>C	gnomAD
PLXND1	Q9Y4D7	p.Gln269His	rs1268751525	missense variant	-	NC_000003.12:g.129605833C>G	gnomAD
PLXND1	Q9Y4D7	p.Gly270Asp	rs1380478054	missense variant	-	NC_000003.12:g.129605831C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala271Asp	rs745969225	missense variant	-	NC_000003.12:g.129605828G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala271Ser	rs756173220	missense variant	-	NC_000003.12:g.129605829C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.His275Gln	rs201057995	missense variant	-	NC_000003.12:g.129605815G>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys276Asn	rs1169433745	missense variant	-	NC_000003.12:g.129605812C>A	gnomAD
PLXND1	Q9Y4D7	p.Lys276Arg	rs764511186	missense variant	-	NC_000003.12:g.129605813T>C	ExAC
PLXND1	Q9Y4D7	p.Leu277Val	rs758769129	missense variant	-	NC_000003.12:g.129605811G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val280Leu	rs753152584	missense variant	-	NC_000003.12:g.129605802C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser281Asn	rs765763651	missense variant	-	NC_000003.12:g.129605798C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala282Ser	rs760200531	missense variant	-	NC_000003.12:g.129605796C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Phe283Leu	rs199609621	missense variant	-	NC_000003.12:g.129605793A>G	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Phe283Leu	rs767180864	missense variant	-	NC_000003.12:g.129605791G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu284Val	rs761435693	missense variant	-	NC_000003.12:g.129605790G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His285Tyr	rs200556177	missense variant	-	NC_000003.12:g.129605787G>A	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro286Arg	rs768510814	missense variant	-	NC_000003.12:g.129605783G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser287Ala	rs1230997195	missense variant	-	NC_000003.12:g.129605781A>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser287Cys	rs1166527146	missense variant	-	NC_000003.12:g.129605780G>C	TOPMed
PLXND1	Q9Y4D7	p.Asp288Tyr	rs1354243255	missense variant	-	NC_000003.12:g.129605778C>A	gnomAD
PLXND1	Q9Y4D7	p.Pro289Arg	rs761800196	missense variant	-	NC_000003.12:g.129605774G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro289Leu	rs761800196	missense variant	-	NC_000003.12:g.129605774G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro290Leu	rs775530664	missense variant	-	NC_000003.12:g.129605771G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro291Arg	rs769663537	missense variant	-	NC_000003.12:g.129605768G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro291Leu	rs769663537	missense variant	-	NC_000003.12:g.129605768G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly292Ala	rs79870266	missense variant	-	NC_000003.12:g.129605765C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly292Val	rs79870266	missense variant	-	NC_000003.12:g.129605765C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly292Asp	rs79870266	missense variant	-	NC_000003.12:g.129605765C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr296Cys	rs1465782551	missense variant	-	NC_000003.12:g.129605753T>C	gnomAD
PLXND1	Q9Y4D7	p.Ala297Thr	rs376671922	missense variant	-	NC_000003.12:g.129605751C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala297Val	rs1459990912	missense variant	-	NC_000003.12:g.129605750G>A	gnomAD
PLXND1	Q9Y4D7	p.Leu299Arg	rs1159879952	missense variant	-	NC_000003.12:g.129605744A>C	gnomAD
PLXND1	Q9Y4D7	p.Glu304Lys	rs942266675	missense variant	-	NC_000003.12:g.129605730C>T	TOPMed
PLXND1	Q9Y4D7	p.Ala305Ser	rs1047081915	missense variant	-	NC_000003.12:g.129605727C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly308Asp	rs1248619934	missense variant	-	NC_000003.12:g.129605717C>T	gnomAD
PLXND1	Q9Y4D7	p.Asp309Glu	rs1469187492	missense variant	-	NC_000003.12:g.129605713G>C	gnomAD
PLXND1	Q9Y4D7	p.Glu311Lys	rs1255495434	missense variant	-	NC_000003.12:g.129605709C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser312Arg	rs777985936	missense variant	-	NC_000003.12:g.129605704G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser312Gly	rs1199481779	missense variant	-	NC_000003.12:g.129605706T>C	TOPMed
PLXND1	Q9Y4D7	p.Ala314Val	rs1240486478	missense variant	-	NC_000003.12:g.129605699G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala314Thr	rs1260806678	missense variant	-	NC_000003.12:g.129605700C>T	gnomAD
PLXND1	Q9Y4D7	p.Arg315Leu	rs1305844037	missense variant	-	NC_000003.12:g.129605696C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg315Gln	rs1305844037	missense variant	-	NC_000003.12:g.129605696C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser316Asn	rs758720185	missense variant	-	NC_000003.12:g.129605693C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala319Pro	rs1323593306	missense variant	-	NC_000003.12:g.129605685C>G	gnomAD
PLXND1	Q9Y4D7	p.Ala319Val	rs948207546	missense variant	-	NC_000003.12:g.129605684G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg320His	rs1372838674	missense variant	-	NC_000003.12:g.129605681C>T	TOPMed
PLXND1	Q9Y4D7	p.Arg320Cys	rs1389207607	missense variant	-	NC_000003.12:g.129605682G>A	gnomAD
PLXND1	Q9Y4D7	p.Pro324Ser	rs1455399849	missense variant	-	NC_000003.12:g.129605670G>A	gnomAD
PLXND1	Q9Y4D7	p.His325Gln	rs1052527824	missense variant	-	NC_000003.12:g.129605665G>T	gnomAD
PLXND1	Q9Y4D7	p.Gly326Asp	rs934524798	missense variant	-	NC_000003.12:g.129605663C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala327Asp	rs1240034410	missense variant	-	NC_000003.12:g.129605660G>T	gnomAD
PLXND1	Q9Y4D7	p.Gly328Ser	rs1192068192	missense variant	-	NC_000003.12:g.129605658C>T	gnomAD
PLXND1	Q9Y4D7	p.Gly329Arg	rs916795998	missense variant	-	NC_000003.12:g.129605655C>G	TOPMed
PLXND1	Q9Y4D7	p.Ala331Ser	rs1206442677	missense variant	-	NC_000003.12:g.129605649C>A	gnomAD
PLXND1	Q9Y4D7	p.Lys333Glu	rs1484588309	missense variant	-	NC_000003.12:g.129605643T>C	gnomAD
PLXND1	Q9Y4D7	p.Leu334Ile	rs1259835722	missense variant	-	NC_000003.12:g.129605640G>T	gnomAD
PLXND1	Q9Y4D7	p.Leu334Phe	rs1259835722	missense variant	-	NC_000003.12:g.129605640G>A	gnomAD
PLXND1	Q9Y4D7	p.Glu336Asp	rs959839187	missense variant	-	NC_000003.12:g.129605632C>A	TOPMed
PLXND1	Q9Y4D7	p.Ile339Thr	rs1349554813	missense variant	-	NC_000003.12:g.129605624A>G	gnomAD
PLXND1	Q9Y4D7	p.Gln340Glu	rs1300994448	missense variant	-	NC_000003.12:g.129605622G>C	gnomAD
PLXND1	Q9Y4D7	p.Leu341Phe	rs1233220868	missense variant	-	NC_000003.12:g.129605617C>G	gnomAD
PLXND1	Q9Y4D7	p.Gly342Asp	rs1327014254	missense variant	-	NC_000003.12:g.129605615C>T	gnomAD
PLXND1	Q9Y4D7	p.Gln344Lys	rs1340879584	missense variant	-	NC_000003.12:g.129605610G>T	TOPMed
PLXND1	Q9Y4D7	p.Gly347Ser	rs1384036765	missense variant	-	NC_000003.12:g.129605601C>T	gnomAD
PLXND1	Q9Y4D7	p.Gly347Val	rs1382908892	missense variant	-	NC_000003.12:g.129605600C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly347Asp	rs1382908892	missense variant	-	NC_000003.12:g.129605600C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly352Arg	rs1377440617	missense variant	-	NC_000003.12:g.129605586C>G	gnomAD
PLXND1	Q9Y4D7	p.Ser356Ile	rs753099478	missense variant	-	NC_000003.12:g.129605573C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser356Gly	rs1195923628	missense variant	-	NC_000003.12:g.129605574T>C	gnomAD
PLXND1	Q9Y4D7	p.Ala364Thr	rs1486458440	missense variant	-	NC_000003.12:g.129605550C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg367Trp	rs1209979229	missense variant	-	NC_000003.12:g.129605541G>A	gnomAD
PLXND1	Q9Y4D7	p.Arg367Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129605540C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Leu368Phe	rs755496000	missense variant	-	NC_000003.12:g.129605538G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala370Thr	rs1225190365	missense variant	-	NC_000003.12:g.129605532C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala370Val	rs959821221	missense variant	-	NC_000003.12:g.129605531G>A	gnomAD
PLXND1	Q9Y4D7	p.Phe372Leu	rs1325715967	missense variant	-	NC_000003.12:g.129605524G>C	gnomAD
PLXND1	Q9Y4D7	p.Arg374Trp	rs966980044	missense variant	-	NC_000003.12:g.129605520G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro375Ala	rs749940222	missense variant	-	NC_000003.12:g.129605517G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln376Ter	rs1432258926	stop gained	-	NC_000003.12:g.129605514G>A	TOPMed
PLXND1	Q9Y4D7	p.Gln376Arg	rs1176387578	missense variant	-	NC_000003.12:g.129605513T>C	TOPMed
PLXND1	Q9Y4D7	p.Gly377Ala	rs1357670294	missense variant	-	NC_000003.12:g.129605510C>G	gnomAD
PLXND1	Q9Y4D7	p.Gly377Glu	rs1357670294	missense variant	-	NC_000003.12:g.129605510C>T	gnomAD
PLXND1	Q9Y4D7	p.Pro379Ser	rs1311254322	missense variant	-	NC_000003.12:g.129605505G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala381Thr	rs1035888660	missense variant	-	NC_000003.12:g.129605499C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala381Val	rs1169970036	missense variant	-	NC_000003.12:g.129605498G>A	gnomAD
PLXND1	Q9Y4D7	p.Arg382His	rs1442549086	missense variant	-	NC_000003.12:g.129605495C>T	gnomAD
PLXND1	Q9Y4D7	p.Arg382Cys	rs766868357	missense variant	-	NC_000003.12:g.129605496G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala383Pro	rs1372953643	missense variant	-	NC_000003.12:g.129605493C>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala383Ser	rs1372953643	missense variant	-	NC_000003.12:g.129605493C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala384Ser	rs761398038	missense variant	-	NC_000003.12:g.129605490C>A	ExAC,TOPMed
PLXND1	Q9Y4D7	p.Pro385Arg	rs1255012579	missense variant	-	NC_000003.12:g.129605486G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro385Ala	rs1475900601	missense variant	-	NC_000003.12:g.129605487G>C	gnomAD
PLXND1	Q9Y4D7	p.Ala387Thr	rs1186756832	missense variant	-	NC_000003.12:g.129605481C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala387Ser	rs1186756832	missense variant	-	NC_000003.12:g.129605481C>A	gnomAD
PLXND1	Q9Y4D7	p.Leu388Phe	rs1326686000	missense variant	-	NC_000003.12:g.129605478G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala390Thr	rs774100616	missense variant	-	NC_000003.12:g.129605472C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Phe391Ile	rs1274862907	missense variant	-	NC_000003.12:g.129605469A>T	gnomAD
PLXND1	Q9Y4D7	p.Arg392Cys	rs763873909	missense variant	-	NC_000003.12:g.129605466G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg392Ser	rs763873909	missense variant	-	NC_000003.12:g.129605466G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala394Val	rs1338731468	missense variant	-	NC_000003.12:g.129605459G>A	gnomAD
PLXND1	Q9Y4D7	p.Asp395Asn	rs1018135442	missense variant	-	NC_000003.12:g.129605457C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val396Leu	rs962207536	missense variant	-	NC_000003.12:g.129605454C>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val396Met	rs962207536	missense variant	-	NC_000003.12:g.129605454C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala398Thr	rs1336510996	missense variant	-	NC_000003.12:g.129605448C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala399Thr	rs1008460441	missense variant	-	NC_000003.12:g.129605445C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala399Val	rs1267172845	missense variant	-	NC_000003.12:g.129605444G>A	TOPMed
PLXND1	Q9Y4D7	p.Ala399Ser	rs1008460441	missense variant	-	NC_000003.12:g.129605445C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala402Val	rs1166250352	missense variant	-	NC_000003.12:g.129605435G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala403Val	rs1462608717	missense variant	-	NC_000003.12:g.129605432G>A	gnomAD
PLXND1	Q9Y4D7	p.Arg404Leu	rs1415056242	missense variant	-	NC_000003.12:g.129605429C>A	gnomAD
PLXND1	Q9Y4D7	p.Ala406Pro	rs769757634	missense variant	-	NC_000003.12:g.129605424C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala406Ser	rs769757634	missense variant	-	NC_000003.12:g.129605424C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala406Gly	rs1157538964	missense variant	-	NC_000003.12:g.129605423G>C	TOPMed
PLXND1	Q9Y4D7	p.Phe408Leu	rs745859959	missense variant	-	NC_000003.12:g.129605416G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val409Met	rs889333181	missense variant	-	NC_000003.12:g.129605415C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val409Leu	rs889333181	missense variant	-	NC_000003.12:g.129605415C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala412Thr	rs776637104	missense variant	-	NC_000003.12:g.129605406C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val416Gly	rs1215507895	missense variant	-	NC_000003.12:g.129605393A>C	gnomAD
PLXND1	Q9Y4D7	p.Ala417Val	rs1332536944	missense variant	-	NC_000003.12:g.129605390G>A	gnomAD
PLXND1	Q9Y4D7	p.Leu419Phe	rs1351746021	missense variant	-	NC_000003.12:g.129605385G>A	gnomAD
PLXND1	Q9Y4D7	p.Asp420Asn	rs1237391198	missense variant	-	NC_000003.12:g.129605382C>T	gnomAD
PLXND1	Q9Y4D7	p.Asp420Tyr	rs1237391198	missense variant	-	NC_000003.12:g.129605382C>A	gnomAD
PLXND1	Q9Y4D7	p.Ser421Gly	rs1326942294	missense variant	-	NC_000003.12:g.129605379T>C	gnomAD
PLXND1	Q9Y4D7	p.Ser421Asn	rs1443752478	missense variant	-	NC_000003.12:g.129605378C>T	gnomAD
PLXND1	Q9Y4D7	p.Val422Met	rs1322367843	missense variant	-	NC_000003.12:g.129605376C>T	gnomAD
PLXND1	Q9Y4D7	p.Val423Met	rs1409762255	missense variant	-	NC_000003.12:g.129605373C>T	gnomAD
PLXND1	Q9Y4D7	p.Gln424Arg	rs1395489122	missense variant	-	NC_000003.12:g.129605369T>C	gnomAD
PLXND1	Q9Y4D7	p.Gln424Ter	rs868772952	stop gained	-	NC_000003.12:g.129605370G>A	gnomAD
PLXND1	Q9Y4D7	p.Gln424Leu	rs1395489122	missense variant	-	NC_000003.12:g.129605369T>A	gnomAD
PLXND1	Q9Y4D7	p.Gly425Asp	rs1252282879	missense variant	-	NC_000003.12:g.129605366C>T	gnomAD
PLXND1	Q9Y4D7	p.Gly425Ser	rs1467095603	missense variant	-	NC_000003.12:g.129605367C>T	gnomAD
PLXND1	Q9Y4D7	p.Gly425Val	rs1252282879	missense variant	-	NC_000003.12:g.129605366C>A	gnomAD
PLXND1	Q9Y4D7	p.Thr426Met	rs1447627549	missense variant	-	NC_000003.12:g.129605363G>A	gnomAD
PLXND1	Q9Y4D7	p.Gly427Ter	rs1286676564	stop gained	-	NC_000003.12:g.129605361C>A	gnomAD
PLXND1	Q9Y4D7	p.Gly427Val	rs747121264	missense variant	-	NC_000003.12:g.129605360C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro428Ser	rs1304640635	missense variant	-	NC_000003.12:g.129605358G>A	gnomAD
PLXND1	Q9Y4D7	p.Pro428Leu	rs777938845	missense variant	-	NC_000003.12:g.129605357G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro428Gln	rs777938845	missense variant	-	NC_000003.12:g.129605357G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala429Thr	rs1274740904	missense variant	-	NC_000003.12:g.129605355C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala429Ser	rs1274740904	missense variant	-	NC_000003.12:g.129605355C>A	gnomAD
PLXND1	Q9Y4D7	p.Cys430Phe	rs1346477284	missense variant	-	NC_000003.12:g.129605351C>A	gnomAD
PLXND1	Q9Y4D7	p.Cys430Arg	rs1430888617	missense variant	-	NC_000003.12:g.129605352A>G	gnomAD
PLXND1	Q9Y4D7	p.Glu431Lys	rs779207699	missense variant	-	NC_000003.12:g.129605349C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu431Ter	rs779207699	stop gained	-	NC_000003.12:g.129605349C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg432His	rs780631605	missense variant	-	NC_000003.12:g.129605345C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg432Ser	rs755370595	missense variant	-	NC_000003.12:g.129605346G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg432Leu	rs780631605	missense variant	-	NC_000003.12:g.129605345C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys433Met	rs751158324	missense variant	-	NC_000003.12:g.129605342T>A	ExAC
PLXND1	Q9Y4D7	p.Lys433Glu	rs756790145	missense variant	-	NC_000003.12:g.129605343T>C	ExAC
PLXND1	Q9Y4D7	p.Leu434Ile	rs1424429715	missense variant	-	NC_000003.12:g.129605340G>T	gnomAD
PLXND1	Q9Y4D7	p.Asn435Tyr	rs1187017879	missense variant	-	NC_000003.12:g.129605337T>A	gnomAD
PLXND1	Q9Y4D7	p.Asn435Ser	rs1476325546	missense variant	-	NC_000003.12:g.129605336T>C	gnomAD
PLXND1	Q9Y4D7	p.Ile436Leu	rs763820694	missense variant	-	NC_000003.12:g.129605334T>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gln437His	rs1488117943	missense variant	-	NC_000003.12:g.129605329C>A	gnomAD
PLXND1	Q9Y4D7	p.Leu438Phe	rs1320811011	missense variant	-	NC_000003.12:g.129589527G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala447Val	rs1193983205	missense variant	-	NC_000003.12:g.129589499G>A	TOPMed
PLXND1	Q9Y4D7	p.His449Tyr	rs1370931234	missense variant	-	NC_000003.12:g.129589494G>A	gnomAD
PLXND1	Q9Y4D7	p.His452Tyr	rs1489595040	missense variant	-	NC_000003.12:g.129589485G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro453Gln	rs1441551728	missense variant	-	NC_000003.12:g.129589481G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro453Leu	rs1441551728	missense variant	-	NC_000003.12:g.129589481G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser455Pro	COSM3749815	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129589476A>G	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ile456Thr	rs1456453318	missense variant	-	NC_000003.12:g.129589472A>G	gnomAD
PLXND1	Q9Y4D7	p.Gln458Ter	rs1160074508	stop gained	-	NC_000003.12:g.129589467G>A	gnomAD
PLXND1	Q9Y4D7	p.Gln458Arg	rs1454405971	missense variant	-	NC_000003.12:g.129589466T>C	TOPMed
PLXND1	Q9Y4D7	p.Pro459Ser	rs573002407	missense variant	-	NC_000003.12:g.129589464G>A	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu460Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129589461G>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala462Val	rs1255434996	missense variant	-	NC_000003.12:g.129589454G>A	gnomAD
PLXND1	Q9Y4D7	p.Thr463Met	rs146817457	missense variant	-	NC_000003.12:g.129589451G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr463Lys	rs146817457	missense variant	-	NC_000003.12:g.129589451G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val465Met	rs143746898	missense variant	-	NC_000003.12:g.129589446C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Phe466Val	rs749594802	missense variant	-	NC_000003.12:g.129589443A>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg467His	rs140020337	missense variant	-	NC_000003.12:g.129589439C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg467Cys	rs371227931	missense variant	-	NC_000003.12:g.129589440G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala468Thr	rs781768858	missense variant	-	NC_000003.12:g.129589437C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro469Ser	rs757936121	missense variant	-	NC_000003.12:g.129589434G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro469Leu	rs146072632	missense variant	-	NC_000003.12:g.129589433G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu471Phe	rs1158485889	missense variant	-	NC_000003.12:g.129589428G>A	gnomAD
PLXND1	Q9Y4D7	p.Val474Met	rs750310939	missense variant	-	NC_000003.12:g.129589419C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala475Val	rs866945757	missense variant	-	NC_000003.12:g.129589415G>A	gnomAD
PLXND1	Q9Y4D7	p.Val476Met	rs1261823183	missense variant	-	NC_000003.12:g.129589413C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser478Gly	rs1187704730	missense variant	-	NC_000003.12:g.129589407T>C	gnomAD
PLXND1	Q9Y4D7	p.Val479Ile	rs376523880	missense variant	-	NC_000003.12:g.129589404C>T	ESP,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn480GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.129589401_129589402insGACGCTG	NCI-TCGA
PLXND1	Q9Y4D7	p.Thr483Ala	rs1184028552	missense variant	-	NC_000003.12:g.129589392T>C	TOPMed
PLXND1	Q9Y4D7	p.Ala484Glu	rs373082800	missense variant	-	NC_000003.12:g.129589388G>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala484Val	rs373082800	missense variant	-	NC_000003.12:g.129589388G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala484Ser	COSM4113386	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129589389C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Val485Ile	rs141992927	missense variant	-	NC_000003.12:g.129589386C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val485Leu	rs141992927	missense variant	-	NC_000003.12:g.129589386C>G	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Phe486Leu	rs777240664	missense variant	-	NC_000003.12:g.129589383A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly488Asp	rs1373548451	missense variant	-	NC_000003.12:g.129589376C>T	TOPMed
PLXND1	Q9Y4D7	p.Thr489Met	rs771612189	missense variant	-	NC_000003.12:g.129589373G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr489Lys	rs771612189	missense variant	-	NC_000003.12:g.129589373G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val490Ile	COSM1038131	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129589371C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Asn491His	rs1342077112	missense variant	-	NC_000003.12:g.129589368T>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn491Lys	rs2285373	missense variant	-	NC_000003.12:g.129589366G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly492Arg	rs754446744	missense variant	-	NC_000003.12:g.129589365C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg493Ser	rs1315807282	missense variant	-	NC_000003.12:g.129589360C>A	TOPMed
PLXND1	Q9Y4D7	p.Asn500Lys	rs770727652	missense variant	-	NC_000003.12:g.129586708G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu501Asp	rs1381942476	missense variant	-	NC_000003.12:g.129586705C>G	gnomAD
PLXND1	Q9Y4D7	p.Glu501Lys	rs72990040	missense variant	-	NC_000003.12:g.129586707C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu501Gly	rs202165660	missense variant	-	NC_000003.12:g.129586706T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser502Asn	rs1176481144	missense variant	-	NC_000003.12:g.129586703C>T	gnomAD
PLXND1	Q9Y4D7	p.Met503Val	rs1439070141	missense variant	-	NC_000003.12:g.129586701T>C	gnomAD
PLXND1	Q9Y4D7	p.Gln504Arg	rs182064884	missense variant	-	NC_000003.12:g.129586697T>C	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gln504Ter	rs1253542088	stop gained	-	NC_000003.12:g.129586698G>A	gnomAD
PLXND1	Q9Y4D7	p.Val505Leu	rs80349132	missense variant	-	NC_000003.12:g.129586695C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val505Met	rs80349132	missense variant	-	NC_000003.12:g.129586695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val505Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129586694A>G	NCI-TCGA
PLXND1	Q9Y4D7	p.Val506Leu	rs777597461	missense variant	-	NC_000003.12:g.129586692C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val506Met	rs777597461	missense variant	-	NC_000003.12:g.129586692C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser507Asn	rs1209502221	missense variant	-	NC_000003.12:g.129586688C>T	gnomAD
PLXND1	Q9Y4D7	p.Arg509Trp	rs542362609	missense variant	-	NC_000003.12:g.129586683G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg509Gln	rs765540434	missense variant	-	NC_000003.12:g.129586682C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg509Gln	rs765540434	missense variant	-	NC_000003.12:g.129586682C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Val510Met	rs190778347	missense variant	-	NC_000003.12:g.129586680C>T	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val510Leu	rs190778347	missense variant	-	NC_000003.12:g.129586680C>A	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val511Ala	rs1347639992	missense variant	-	NC_000003.12:g.129586676A>G	gnomAD
PLXND1	Q9Y4D7	p.Val511Met	rs1439157771	missense variant	-	NC_000003.12:g.129586677C>T	gnomAD
PLXND1	Q9Y4D7	p.Val513Leu	rs1362049460	missense variant	-	NC_000003.12:g.129586671C>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val513Met	rs1362049460	missense variant	-	NC_000003.12:g.129586671C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala514Thr	rs1418833570	missense variant	-	NC_000003.12:g.129586668C>T	gnomAD
PLXND1	Q9Y4D7	p.Tyr515Asn	rs372068141	missense variant	-	NC_000003.12:g.129586665A>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr515Cys	rs137960066	missense variant	-	NC_000003.12:g.129586664T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr515His	rs372068141	missense variant	-	NC_000003.12:g.129586665A>G	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr515Ser	rs137960066	missense variant	-	NC_000003.12:g.129586664T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu517Lys	rs1476977579	missense variant	-	NC_000003.12:g.129586659C>T	gnomAD
PLXND1	Q9Y4D7	p.Glu517Asp	rs1245061468	missense variant	-	NC_000003.12:g.129586657C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro518Thr	rs762426238	missense variant	-	NC_000003.12:g.129586656G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val519Met	rs146955703	missense variant	-	NC_000003.12:g.129586653C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His521Leu	rs745457679	missense variant	-	NC_000003.12:g.129586646T>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.His521Asn	rs1214965133	missense variant	-	NC_000003.12:g.129586647G>T	gnomAD
PLXND1	Q9Y4D7	p.Val522Ala	rs1221434798	missense variant	-	NC_000003.12:g.129586643A>G	gnomAD
PLXND1	Q9Y4D7	p.Met523Ile	rs780721406	missense variant	-	NC_000003.12:g.129586639C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Phe525Leu	rs1273789542	missense variant	-	NC_000003.12:g.129586635A>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp526Glu	rs142772519	missense variant	-	NC_000003.12:g.129586630G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro527Ser	rs1295938364	missense variant	-	NC_000003.12:g.129586629G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala528Thr	COSM294708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129586626C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Asp529Asn	rs1177886052	missense variant	-	NC_000003.12:g.129586623C>T	gnomAD
PLXND1	Q9Y4D7	p.Asp529Glu	rs1412703838	missense variant	-	NC_000003.12:g.129586621G>T	gnomAD
PLXND1	Q9Y4D7	p.Gly531Ser	rs2301572	missense variant	-	NC_000003.12:g.129586617C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly531Val	rs117182497	missense variant	-	NC_000003.12:g.129586616C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr532Phe	rs752817921	missense variant	-	NC_000003.12:g.129586613T>A	ExAC
PLXND1	Q9Y4D7	p.Tyr532Asp	rs758319018	missense variant	-	NC_000003.12:g.129586614A>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr537Met	rs201180612	missense variant	-	NC_000003.12:g.129586598G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser538Phe	rs1311024180	missense variant	-	NC_000003.12:g.129586595G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser538Tyr	rs1311024180	missense variant	-	NC_000003.12:g.129586595G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His539Tyr	rs1278497344	missense variant	-	NC_000003.12:g.129586593G>A	gnomAD
PLXND1	Q9Y4D7	p.Gln540His	rs761069146	missense variant	-	NC_000003.12:g.129586588C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala542Ser	rs1320676066	missense variant	-	NC_000003.12:g.129586269C>A	gnomAD
PLXND1	Q9Y4D7	p.Ala542Val	rs376235870	missense variant	-	NC_000003.12:g.129586268G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg543Ser	rs148674866	missense variant	-	NC_000003.12:g.129586264C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys545Asn	rs750797031	missense variant	-	NC_000003.12:g.129586258C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val546Phe	rs767708810	missense variant	-	NC_000003.12:g.129586257C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val546Ile	rs767708810	missense variant	-	NC_000003.12:g.129586257C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala547Thr	rs764619772	missense variant	-	NC_000003.12:g.129586254C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala548Ser	rs559891372	missense variant	-	NC_000003.12:g.129586251C>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala548Pro	rs559891372	missense variant	-	NC_000003.12:g.129586251C>G	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala548Val	rs766043958	missense variant	-	NC_000003.12:g.129586250G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala548Thr	rs559891372	missense variant	-	NC_000003.12:g.129586251C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn550Ser	rs772928504	missense variant	-	NC_000003.12:g.129586244T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val551Met	rs929162804	missense variant	-	NC_000003.12:g.129586242C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Val551Met	rs929162804	missense variant	-	NC_000003.12:g.129586242C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser553Phe	rs1188932710	missense variant	-	NC_000003.12:g.129586235G>A	gnomAD
PLXND1	Q9Y4D7	p.Thr554Ile	rs979603878	missense variant	-	NC_000003.12:g.129586232G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys555Tyr	rs774399373	missense variant	-	NC_000003.12:g.129586229C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Cys555Arg	rs747983530	missense variant	-	NC_000003.12:g.129586230A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp557Glu	rs1284994292	missense variant	-	NC_000003.12:g.129586222G>T	gnomAD
PLXND1	Q9Y4D7	p.Asp557Asn	rs1409538149	missense variant	-	NC_000003.12:g.129586224C>T	TOPMed
PLXND1	Q9Y4D7	p.Val559Met	rs749371540	missense variant	-	NC_000003.12:g.129586218C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly560Cys	COSM6163242	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129586215C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Gly560Ser	rs780063050	missense variant	-	NC_000003.12:g.129586215C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala561Val	rs1028050337	missense variant	-	NC_000003.12:g.129586211G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala562Val	rs746020904	missense variant	-	NC_000003.12:g.129586208G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala564Thr	rs373023998	missense variant	-	NC_000003.12:g.129586203C>T	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Tyr565Ser	rs778233591	missense variant	-	NC_000003.12:g.129586199T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly567Ser	rs1379872612	missense variant	-	NC_000003.12:g.129586194C>T	gnomAD
PLXND1	Q9Y4D7	p.Cys569Gly	rs753250110	missense variant	-	NC_000003.12:g.129586188A>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala570Ser	rs988264137	missense variant	-	NC_000003.12:g.129586185C>A	gnomAD
PLXND1	Q9Y4D7	p.Leu571Pro	rs1318387282	missense variant	-	NC_000003.12:g.129586181A>G	TOPMed
PLXND1	Q9Y4D7	p.Glu572Gly	rs765746868	missense variant	-	NC_000003.12:g.129586178T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu572Gly	rs765746868	missense variant	-	NC_000003.12:g.129586178T>C	NCI-TCGA,NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Thr573Met	rs151013320	missense variant	-	NC_000003.12:g.129586175G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr573Met	rs151013320	missense variant	-	NC_000003.12:g.129586175G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg574Trp	rs143527204	missense variant	-	NC_000003.12:g.129586173G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg574Gln	rs761679091	missense variant	-	NC_000003.12:g.129586172C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys575Ter	rs1395389018	stop gained	-	NC_000003.12:g.129586078G>T	gnomAD
PLXND1	Q9Y4D7	p.Gln579Ter	rs896480812	stop gained	-	NC_000003.12:g.129586068G>A	TOPMed
PLXND1	Q9Y4D7	p.Gln579Arg	rs762831084	missense variant	-	NC_000003.12:g.129586067T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp580Asn	rs889049054	missense variant	-	NC_000003.12:g.129586065C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys581Gly	rs775251447	missense variant	-	NC_000003.12:g.129586062A>C	ExAC
PLXND1	Q9Y4D7	p.Ser584Tyr	rs769810911	missense variant	-	NC_000003.12:g.129586052G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln587Arg	rs1440286933	missense variant	-	NC_000003.12:g.129586043T>C	gnomAD
PLXND1	Q9Y4D7	p.His588Tyr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129586041G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Thr591Ile	COSM3587263	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129586031G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ser592Thr	rs1272303581	missense variant	-	NC_000003.12:g.129586028C>G	TOPMed
PLXND1	Q9Y4D7	p.Ser594Gly	COSM1038130	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129586023T>C	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Glu595Lys	rs747172721	missense variant	-	NC_000003.12:g.129586020C>T	NCI-TCGA,NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Glu595Lys	rs747172721	missense variant	-	NC_000003.12:g.129586020C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly596Val	rs200419985	missense variant	-	NC_000003.12:g.129586016C>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly596Asp	rs200419985	missense variant	-	NC_000003.12:g.129586016C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly596Ala	rs200419985	missense variant	-	NC_000003.12:g.129586016C>G	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro597Leu	rs1234439330	missense variant	-	NC_000003.12:g.129586013G>A	TOPMed
PLXND1	Q9Y4D7	p.Ser598Thr	rs148875932	missense variant	-	NC_000003.12:g.129586010C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser598Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129586010C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg599Ser	rs538120639	missense variant	-	NC_000003.12:g.129586008G>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg599Cys	rs538120639	missense variant	-	NC_000003.12:g.129586008G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg599His	rs199829526	missense variant	-	NC_000003.12:g.129586007C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro601Leu	rs780780156	missense variant	-	NC_000003.12:g.129586001G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro601Arg	rs780780156	missense variant	-	NC_000003.12:g.129586001G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met603Val	rs756842970	missense variant	-	NC_000003.12:g.129585996T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr604Ile	rs1329929321	missense variant	-	NC_000003.12:g.129585992G>A	TOPMed
PLXND1	Q9Y4D7	p.Val605Ile	rs763838836	missense variant	-	NC_000003.12:g.129585990C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro607Ser	rs1420070974	missense variant	-	NC_000003.12:g.129585984G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro607Arg	rs1383075698	missense variant	-	NC_000003.12:g.129585983G>C	TOPMed
PLXND1	Q9Y4D7	p.Ser608Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129585980G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu609Lys	rs146738111	missense variant	-	NC_000003.12:g.129585978C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu609Gly	rs1338638065	missense variant	-	NC_000003.12:g.129585977T>C	TOPMed
PLXND1	Q9Y4D7	p.Ile610Thr	rs1215126955	missense variant	-	NC_000003.12:g.129585974A>G	TOPMed
PLXND1	Q9Y4D7	p.Asp611Asn	rs373770425	missense variant	-	NC_000003.12:g.129585972C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val612Met	rs766394256	missense variant	-	NC_000003.12:g.129585969C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg613Cys	rs760772408	missense variant	-	NC_000003.12:g.129585966G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg613His	rs773387450	missense variant	-	NC_000003.12:g.129585965C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg613Ser	rs760772408	missense variant	-	NC_000003.12:g.129585966G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg613His	rs773387450	missense variant	-	NC_000003.12:g.129585965C>T	NCI-TCGA,NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Glu615Lys	rs748447022	missense variant	-	NC_000003.12:g.129585960C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro617Ser	rs2285372	missense variant	-	NC_000003.12:g.129585954G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro617Ser	rs2285372	missense variant	-	NC_000003.12:g.129585954G>A	UniProt,dbSNP
PLXND1	Q9Y4D7	p.Pro617Ser	VAR_056723	missense variant	-	NC_000003.12:g.129585954G>A	UniProt
PLXND1	Q9Y4D7	p.Pro617Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129585953G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Ser624Leu	rs149987116	missense variant	-	NC_000003.12:g.129584543G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly625Ser	rs1460335610	missense variant	-	NC_000003.12:g.129584541C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser626Ile	rs1198690706	missense variant	-	NC_000003.12:g.129584537C>A	gnomAD
PLXND1	Q9Y4D7	p.Leu627Pro	rs1275897972	missense variant	-	NC_000003.12:g.129584534A>G	gnomAD
PLXND1	Q9Y4D7	p.Leu627Val	rs754732315	missense variant	-	NC_000003.12:g.129584535G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser631Arg	rs1447541355	missense variant	-	NC_000003.12:g.129584521A>C	TOPMed
PLXND1	Q9Y4D7	p.Ser631Gly	rs1379625882	missense variant	-	NC_000003.12:g.129584523T>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly632Val	rs779950974	missense variant	-	NC_000003.12:g.129584519C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly632Ala	rs779950974	missense variant	-	NC_000003.12:g.129584519C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Met633Ile	rs1311618440	missense variant	-	NC_000003.12:g.129584515C>T	TOPMed
PLXND1	Q9Y4D7	p.Asp638Glu	rs1012005843	missense variant	-	NC_000003.12:g.129584500G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr639Cys	rs896916598	missense variant	-	NC_000003.12:g.129584498T>C	TOPMed
PLXND1	Q9Y4D7	p.Arg644His	rs139388919	missense variant	-	NC_000003.12:g.129584483C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg644Leu	rs139388919	missense variant	-	NC_000003.12:g.129584483C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg644Cys	rs767575252	missense variant	-	NC_000003.12:g.129584484G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala647Ser	rs1415009907	missense variant	-	NC_000003.12:g.129584475C>A	gnomAD
PLXND1	Q9Y4D7	p.Arg648Trp	rs199925518	missense variant	-	NC_000003.12:g.129584472G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg648Pro	rs764450672	missense variant	-	NC_000003.12:g.129584471C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg648Gln	rs764450672	missense variant	-	NC_000003.12:g.129584471C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg648Gly	rs199925518	missense variant	-	NC_000003.12:g.129584472G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val649Gly	rs763389224	missense variant	-	NC_000003.12:g.129584468A>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro652Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129584460G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala653Val	rs1458724054	missense variant	-	NC_000003.12:g.129584456G>A	gnomAD
PLXND1	Q9Y4D7	p.His656Tyr	rs770422685	missense variant	-	NC_000003.12:g.129584448G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile658Val	rs1321894484	missense variant	-	NC_000003.12:g.129584442T>C	gnomAD
PLXND1	Q9Y4D7	p.Tyr660Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129584434G>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Cys661Phe	rs902175463	missense variant	-	NC_000003.12:g.129584432C>A	TOPMed
PLXND1	Q9Y4D7	p.Cys661Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129584433A>G	NCI-TCGA
PLXND1	Q9Y4D7	p.Asn662Tyr	rs1167127841	missense variant	-	NC_000003.12:g.129584430T>A	TOPMed
PLXND1	Q9Y4D7	p.Leu663Phe	rs777021506	missense variant	-	NC_000003.12:g.129584427G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro665Leu	rs771566843	missense variant	-	NC_000003.12:g.129584420G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro665Arg	rs771566843	missense variant	-	NC_000003.12:g.129584420G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg666Lys	rs561859042	missense variant	-	NC_000003.12:g.129584417C>T	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln668Arg	rs763380125	missense variant	-	NC_000003.12:g.129584411T>C	TOPMed
PLXND1	Q9Y4D7	p.Pro670Leu	rs768351629	missense variant	-	NC_000003.12:g.129584405G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro671His	rs779756669	missense variant	-	NC_000003.12:g.129584402G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Phe672Ser	rs1167434958	missense variant	-	NC_000003.12:g.129584399A>G	gnomAD
PLXND1	Q9Y4D7	p.Phe672Leu	rs915081386	missense variant	-	NC_000003.12:g.129584400A>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro673Ser	rs1423116680	missense variant	-	NC_000003.12:g.129584397G>A	gnomAD
PLXND1	Q9Y4D7	p.Pro673Arg	rs1384937172	missense variant	-	NC_000003.12:g.129584396G>C	gnomAD
PLXND1	Q9Y4D7	p.Pro674Ala	rs1039247005	missense variant	-	NC_000003.12:g.129584394G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro674His	rs201334507	missense variant	-	NC_000003.12:g.129584393G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro674Thr	rs1039247005	missense variant	-	NC_000003.12:g.129584394G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro674Arg	rs201334507	missense variant	-	NC_000003.12:g.129584393G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn675Ser	rs757329564	missense variant	-	NC_000003.12:g.129584390T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn675Ile	rs757329564	missense variant	-	NC_000003.12:g.129584390T>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn675ThrPheSerTerUnk	COSM4716051	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129584392G>-	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Asn675Lys	rs751642506	missense variant	-	NC_000003.12:g.129584389G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gln676Glu	rs1248086143	missense variant	-	NC_000003.12:g.129584388G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His678Asp	rs747109541	missense variant	-	NC_000003.12:g.129584231G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val679Met	rs772777477	missense variant	-	NC_000003.12:g.129584228C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val679Gly	rs752922453	missense variant	-	NC_000003.12:g.129584227A>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Met683Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129584214C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Ser684Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129584212G>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Val687Phe	rs1423893961	missense variant	-	NC_000003.12:g.129584204C>A	gnomAD
PLXND1	Q9Y4D7	p.Asn688His	rs375414098	missense variant	-	NC_000003.12:g.129584201T>G	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn688Asp	rs375414098	missense variant	-	NC_000003.12:g.129584201T>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly689Arg	rs371028104	missense variant	-	NC_000003.12:g.129584198C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg690Gln	rs754211315	missense variant	-	NC_000003.12:g.129584194C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg690Trp	rs915985679	missense variant	-	NC_000003.12:g.129584195G>A	gnomAD
PLXND1	Q9Y4D7	p.Ile692Val	rs1265130692	missense variant	-	NC_000003.12:g.129584189T>C	gnomAD
PLXND1	Q9Y4D7	p.Val693Ile	rs1323174632	missense variant	-	NC_000003.12:g.129584186C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys694Glu	rs1279060683	missense variant	-	NC_000003.12:g.129584183T>C	gnomAD
PLXND1	Q9Y4D7	p.Lys694Arg	rs773720362	missense variant	-	NC_000003.12:g.129584182T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile699Thr	rs1436460399	missense variant	-	NC_000003.12:g.129584167A>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp701Asn	rs769381156	missense variant	-	NC_000003.12:g.129584162C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp701Tyr	rs769381156	missense variant	-	NC_000003.12:g.129584162C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser703Gly	rs1172379332	missense variant	-	NC_000003.12:g.129584156T>C	gnomAD
PLXND1	Q9Y4D7	p.Arg704Pro	rs770412397	missense variant	-	NC_000003.12:g.129584152C>G	TOPMed
PLXND1	Q9Y4D7	p.Arg704Cys	rs374324498	missense variant	-	NC_000003.12:g.129584153G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg704His	rs770412397	missense variant	-	NC_000003.12:g.129584152C>T	TOPMed
PLXND1	Q9Y4D7	p.Thr705Ala	rs1372310566	missense variant	-	NC_000003.12:g.129584150T>C	gnomAD
PLXND1	Q9Y4D7	p.Gln707Arg	rs770767418	missense variant	-	NC_000003.12:g.129584143T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val708Ala	rs1241189885	missense variant	-	NC_000003.12:g.129584140A>G	gnomAD
PLXND1	Q9Y4D7	p.His711Tyr	rs1258711744	missense variant	-	NC_000003.12:g.129584132G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His711Asp	rs1258711744	missense variant	-	NC_000003.12:g.129584132G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr712Arg	rs1337676357	missense variant	-	NC_000003.12:g.129584128G>C	gnomAD
PLXND1	Q9Y4D7	p.Ala713Val	rs746887877	missense variant	-	NC_000003.12:g.129584125G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala713Thr	rs1245986370	missense variant	-	NC_000003.12:g.129584126C>T	gnomAD
PLXND1	Q9Y4D7	p.Thr715Ile	rs762428555	missense variant	-	NC_000003.12:g.129583664G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr715Ser	rs762428555	missense variant	-	NC_000003.12:g.129583664G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr715Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129583665T>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Ser719Leu	rs201008545	missense variant	-	NC_000003.12:g.129583652G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gln721Lys	rs759045961	missense variant	-	NC_000003.12:g.129583647G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln721Arg	rs141945118	missense variant	-	NC_000003.12:g.129583646T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys727Ser	rs760583001	missense variant	-	NC_000003.12:g.129583629A>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln730Arg	rs1349329515	missense variant	-	NC_000003.12:g.129583619T>C	gnomAD
PLXND1	Q9Y4D7	p.Asn736Ser	rs201928288	missense variant	-	NC_000003.12:g.129583601T>C	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg739Gln	rs138740853	missense variant	-	NC_000003.12:g.129583592C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg739Trp	rs778790008	missense variant	-	NC_000003.12:g.129583593G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg739Leu	rs138740853	missense variant	-	NC_000003.12:g.129583592C>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys740Trp	rs758049237	missense variant	-	NC_000003.12:g.129583588G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu741Lys	rs1316138217	missense variant	-	NC_000003.12:g.129583587C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala742Ser	rs780353863	missense variant	-	NC_000003.12:g.129583584C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser743Leu	rs756439871	missense variant	-	NC_000003.12:g.129583580G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro744Arg	rs1481564136	missense variant	-	NC_000003.12:g.129583577G>C	gnomAD
PLXND1	Q9Y4D7	p.Asn745Lys	rs1379590639	missense variant	-	NC_000003.12:g.129583573G>C	TOPMed
PLXND1	Q9Y4D7	p.Thr747Met	rs200002798	missense variant	-	NC_000003.12:g.129583568G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro749Thr	rs1183301685	missense variant	-	NC_000003.12:g.129578430G>T	TOPMed
PLXND1	Q9Y4D7	p.Pro753Leu	rs1459599041	missense variant	-	NC_000003.12:g.129578417G>A	gnomAD
PLXND1	Q9Y4D7	p.Arg754Gln	rs143852651	missense variant	-	NC_000003.12:g.129578414C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg754Trp	rs774366289	missense variant	-	NC_000003.12:g.129578415G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg754GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.129578415G>-	NCI-TCGA
PLXND1	Q9Y4D7	p.Thr755Ala	rs112755880	missense variant	-	NC_000003.12:g.129578412T>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu757Pro	rs780117025	missense variant	-	NC_000003.12:g.129578405A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu757Phe	rs911874930	missense variant	-	NC_000003.12:g.129578406G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser758Leu	rs1330795083	missense variant	-	NC_000003.12:g.129578402G>A	TOPMed
PLXND1	Q9Y4D7	p.Pro759Ser	rs137955512	missense variant	-	NC_000003.12:g.129578400G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro759Leu	rs150373955	missense variant	-	NC_000003.12:g.129578399G>A	ESP,gnomAD
PLXND1	Q9Y4D7	p.Leu760Met	rs929606138	missense variant	-	NC_000003.12:g.129578397G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu760Pro	rs757633392	missense variant	-	NC_000003.12:g.129578396A>G	ExAC,TOPMed
PLXND1	Q9Y4D7	p.Ala761Thr	rs1356492425	missense variant	-	NC_000003.12:g.129578394C>T	gnomAD
PLXND1	Q9Y4D7	p.Pro762Arg	rs1168853459	missense variant	-	NC_000003.12:g.129578390G>C	gnomAD
PLXND1	Q9Y4D7	p.Val763Met	rs1362474229	missense variant	-	NC_000003.12:g.129578388C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro764Ser	rs778377914	missense variant	-	NC_000003.12:g.129578385G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr765Met	rs754418176	missense variant	-	NC_000003.12:g.129578381G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser768Phe	rs975702851	missense variant	-	NC_000003.12:g.129578372G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gln769Arg	rs750111259	missense variant	-	NC_000003.12:g.129578369T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile771Met	rs1275216860	missense variant	-	NC_000003.12:g.129578362G>C	TOPMed
PLXND1	Q9Y4D7	p.Val773Leu	rs909641134	missense variant	-	NC_000003.12:g.129578358C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro774Leu	rs761730330	missense variant	-	NC_000003.12:g.129578354G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro774Ser	rs1293617304	missense variant	-	NC_000003.12:g.129578355G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala776Ser	rs1314506477	missense variant	-	NC_000003.12:g.129578349C>A	gnomAD
PLXND1	Q9Y4D7	p.Ala779Thr	rs1296676029	missense variant	-	NC_000003.12:g.129578340C>T	gnomAD
PLXND1	Q9Y4D7	p.Phe780Ile	rs1441704049	missense variant	-	NC_000003.12:g.129578337A>T	gnomAD
PLXND1	Q9Y4D7	p.Phe781Leu	rs764472065	missense variant	-	NC_000003.12:g.129578332G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly783Ser	rs1265245359	missense variant	-	NC_000003.12:g.129575855C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala784Val	rs371533848	missense variant	-	NC_000003.12:g.129575851G>A	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala785Thr	rs772332815	missense variant	-	NC_000003.12:g.129575849C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu787Asp	rs779593197	missense variant	-	NC_000003.12:g.129575841C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu787Lys	rs1360451107	missense variant	-	NC_000003.12:g.129575843C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser789Asn	rs1278828227	missense variant	-	NC_000003.12:g.129575836C>T	TOPMed
PLXND1	Q9Y4D7	p.Phe790Ser	rs1342133016	missense variant	-	NC_000003.12:g.129575833A>G	TOPMed
PLXND1	Q9Y4D7	p.Glu794Lys	rs755653840	missense variant	-	NC_000003.12:g.129575822C>T	ExAC
PLXND1	Q9Y4D7	p.Ile795Thr	rs1469882904	missense variant	-	NC_000003.12:g.129575818A>G	gnomAD
PLXND1	Q9Y4D7	p.Phe796Leu	rs372055757	missense variant	-	NC_000003.12:g.129575814G>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu797Lys	rs144798332	missense variant	-	NC_000003.12:g.129575813C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Trp800Cys	rs1311776782	missense variant	-	NC_000003.12:g.129575802C>G	TOPMed
PLXND1	Q9Y4D7	p.Val801Gly	rs77635334	missense variant	-	NC_000003.12:g.129575800A>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val801Ala	rs77635334	missense variant	-	NC_000003.12:g.129575800A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu803Asp	rs1282538474	missense variant	-	NC_000003.12:g.129575793C>G	TOPMed
PLXND1	Q9Y4D7	p.Ser804Ala	rs1172228312	missense variant	-	NC_000003.12:g.129575792A>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser804CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.129575790_129575791AG>-	NCI-TCGA
PLXND1	Q9Y4D7	p.Val806Ala	rs758151471	missense variant	-	NC_000003.12:g.129575785A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg807Cys	rs200217905	missense variant	-	NC_000003.12:g.129575783G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg807His	rs765202904	missense variant	-	NC_000003.12:g.129575782C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp809Glu	rs1461828787	missense variant	-	NC_000003.12:g.129575775G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val811Ala	rs1424950896	missense variant	-	NC_000003.12:g.129575770A>G	TOPMed
PLXND1	Q9Y4D7	p.Val811Met	rs951729630	missense variant	-	NC_000003.12:g.129575771C>T	TOPMed
PLXND1	Q9Y4D7	p.Thr815Met	rs1335256564	missense variant	-	NC_000003.12:g.129575555G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg817Gln	rs141279701	missense variant	-	NC_000003.12:g.129575549C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg817Gly	rs200619991	missense variant	-	NC_000003.12:g.129575550G>C	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg817Trp	rs200619991	missense variant	-	NC_000003.12:g.129575550G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser819Asn	rs1363633176	missense variant	-	NC_000003.12:g.129575543C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser819Arg	rs1161594160	missense variant	-	NC_000003.12:g.129575542G>T	gnomAD
PLXND1	Q9Y4D7	p.Gln820Ter	rs763611949	stop gained	-	NC_000003.12:g.129575541G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln820Glu	rs763611949	missense variant	-	NC_000003.12:g.129575541G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro823Leu	rs142747290	missense variant	-	NC_000003.12:g.129575531G>A	ESP,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro823Thr	rs770513748	missense variant	-	NC_000003.12:g.129575532G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu824Phe	rs1223688267	missense variant	-	NC_000003.12:g.129575529G>A	gnomAD
PLXND1	Q9Y4D7	p.Leu828Ile	rs1209699651	missense variant	-	NC_000003.12:g.129575517G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys829Arg	rs1280735014	missense variant	-	NC_000003.12:g.129575513T>C	gnomAD
PLXND1	Q9Y4D7	p.Lys829Glu	rs1350799378	missense variant	-	NC_000003.12:g.129575514T>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly830Val	rs771563847	missense variant	-	NC_000003.12:g.129575510C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg831Gln	rs747937468	missense variant	-	NC_000003.12:g.129575507C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg831Trp	rs199510990	missense variant	-	NC_000003.12:g.129575508G>A	1000Genomes,gnomAD
PLXND1	Q9Y4D7	p.Pro832Gln	rs1406529464	missense variant	-	NC_000003.12:g.129575504G>T	gnomAD
PLXND1	Q9Y4D7	p.Ala833Ser	rs1163096079	missense variant	-	NC_000003.12:g.129575502C>A	gnomAD
PLXND1	Q9Y4D7	p.Arg834Gln	rs202243684	missense variant	-	NC_000003.12:g.129575498C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg834Gly	rs1322815391	missense variant	-	NC_000003.12:g.129575499G>C	gnomAD
PLXND1	Q9Y4D7	p.Phe835Ile	rs1385825131	missense variant	-	NC_000003.12:g.129575496A>T	gnomAD
PLXND1	Q9Y4D7	p.Leu836Met	rs754748712	missense variant	-	NC_000003.12:g.129575493G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp837Glu	rs1420841498	missense variant	-	NC_000003.12:g.129575488G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp837Glu	rs1420841498	missense variant	-	NC_000003.12:g.129575488G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp837His	rs1411496447	missense variant	-	NC_000003.12:g.129575490C>G	gnomAD
PLXND1	Q9Y4D7	p.Pro839Arg	rs1267160264	missense variant	-	NC_000003.12:g.129575483G>C	gnomAD
PLXND1	Q9Y4D7	p.Pro839Ser	rs753816972	missense variant	-	NC_000003.12:g.129575484G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu840Lys	rs1198801529	missense variant	-	NC_000003.12:g.129575481C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro841Ala	rs779817895	missense variant	-	NC_000003.12:g.129575478G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr843Ile	rs1328121954	missense variant	-	NC_000003.12:g.129575471G>A	gnomAD
PLXND1	Q9Y4D7	p.Val844Phe	COSM1038125	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129575469C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Met845Thr	rs921600171	missense variant	-	NC_000003.12:g.129574487A>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val846Ile	rs767057136	missense variant	-	NC_000003.12:g.129574485C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Tyr847Cys	rs1315900204	missense variant	-	NC_000003.12:g.129574481T>C	gnomAD
PLXND1	Q9Y4D7	p.Asn848Thr	rs1248242367	missense variant	-	NC_000003.12:g.129574478T>G	gnomAD
PLXND1	Q9Y4D7	p.Ala850Thr	rs199793511	missense variant	-	NC_000003.12:g.129574473C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met851Val	rs774016515	missense variant	-	NC_000003.12:g.129574470T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met851Thr	rs768241173	missense variant	-	NC_000003.12:g.129574469A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly852Ser	rs1306528992	missense variant	-	NC_000003.12:g.129574467C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser853Arg	COSM6096282	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129574462G>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ser853Arg	rs1174965883	missense variant	-	NC_000003.12:g.129574464T>G	gnomAD
PLXND1	Q9Y4D7	p.Pro854Arg	rs1349923464	missense variant	-	NC_000003.12:g.129574460G>C	TOPMed
PLXND1	Q9Y4D7	p.Pro854Leu	rs1349923464	missense variant	-	NC_000003.12:g.129574460G>A	TOPMed
PLXND1	Q9Y4D7	p.Asp855Asn	rs775216644	missense variant	-	NC_000003.12:g.129574458C>T	ExAC
PLXND1	Q9Y4D7	p.Gly861Ser	rs930085185	missense variant	-	NC_000003.12:g.129574440C>T	TOPMed
PLXND1	Q9Y4D7	p.Arg862Cys	rs1366719066	missense variant	-	NC_000003.12:g.129574437G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg862His	rs745841532	missense variant	-	NC_000003.12:g.129574436C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu863Lys	rs201339031	missense variant	-	NC_000003.12:g.129574434C>T	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp864Asn	rs561056194	missense variant	-	NC_000003.12:g.129574431C>T	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.His867Tyr	rs752956021	missense variant	-	NC_000003.12:g.129574422G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Met870Val	rs2255703	missense variant	-	NC_000003.12:g.129574413T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met870Ile	rs149847035	missense variant	-	NC_000003.12:g.129574411C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly874Ser	rs754338011	missense variant	-	NC_000003.12:g.129574401C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly874Val	rs766826016	missense variant	-	NC_000003.12:g.129574400C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys875Tyr	rs1289177304	missense variant	-	NC_000003.12:g.129574397C>T	gnomAD
PLXND1	Q9Y4D7	p.Arg876Ser	rs751006502	missense variant	-	NC_000003.12:g.129574395G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg876His	rs554042254	missense variant	-	NC_000003.12:g.129574394C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg876Cys	rs751006502	missense variant	-	NC_000003.12:g.129574395G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg878Trp	rs141047735	missense variant	-	NC_000003.12:g.129574389G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg878Gln	rs775185534	missense variant	-	NC_000003.12:g.129574388C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly879Arg	rs769515971	missense variant	-	NC_000003.12:g.129574386C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly879Trp	rs769515971	missense variant	-	NC_000003.12:g.129574386C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly879Glu	rs1305527323	missense variant	-	NC_000003.12:g.129574385C>T	gnomAD
PLXND1	Q9Y4D7	p.Pro880LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.129574384C>-	NCI-TCGA
PLXND1	Q9Y4D7	p.Pro880Leu	rs1348846336	missense variant	-	NC_000003.12:g.129574382G>A	gnomAD
PLXND1	Q9Y4D7	p.Leu881Pro	rs992398054	missense variant	-	NC_000003.12:g.129574379A>G	TOPMed
PLXND1	Q9Y4D7	p.Gln882Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129574377G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Pro883Leu	rs1159151983	missense variant	-	NC_000003.12:g.129574373G>A	gnomAD
PLXND1	Q9Y4D7	p.Met884Leu	rs770931553	missense variant	-	NC_000003.12:g.129574371T>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met884Thr	rs1003519399	missense variant	-	NC_000003.12:g.129574370A>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met884Val	rs770931553	missense variant	-	NC_000003.12:g.129574371T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met884Ile	rs538923633	missense variant	-	NC_000003.12:g.129574369C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met884Leu	rs770931553	missense variant	-	NC_000003.12:g.129574371T>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala885Val	rs772173857	missense variant	-	NC_000003.12:g.129574367G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala885Pro	rs376756512	missense variant	-	NC_000003.12:g.129574368C>G	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly886Ser	rs1488103613	missense variant	-	NC_000003.12:g.129574365C>T	gnomAD
PLXND1	Q9Y4D7	p.Thr887Pro	rs779159553	missense variant	-	NC_000003.12:g.129574362T>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro889Ser	rs1266480022	missense variant	-	NC_000003.12:g.129574356G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala890Thr	rs754176157	missense variant	-	NC_000003.12:g.129574353C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu892Asp	rs1363677580	missense variant	-	NC_000003.12:g.129574345C>G	TOPMed
PLXND1	Q9Y4D7	p.Glu892Lys	rs1021350900	missense variant	-	NC_000003.12:g.129574347C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His894Tyr	rs558944120	missense variant	-	NC_000003.12:g.129574341G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His894Asn	rs558944120	missense variant	-	NC_000003.12:g.129574341G>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His894Arg	rs2625962	missense variant	-	NC_000003.12:g.129574340T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala895Val	rs201781153	missense variant	-	NC_000003.12:g.129574337G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala895Thr	rs752323651	missense variant	-	NC_000003.12:g.129574338C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu897Lys	rs1445315536	missense variant	-	NC_000003.12:g.129573742C>T	gnomAD
PLXND1	Q9Y4D7	p.Pro902Leu	rs775659642	missense variant	-	NC_000003.12:g.129573726G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro902Gln	rs775659642	missense variant	-	NC_000003.12:g.129573726G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp904Glu	rs57901044	missense variant	-	NC_000003.12:g.129573719G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly905Asp	rs781562113	missense variant	-	NC_000003.12:g.129573717C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly905Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129573718C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Ile911Leu	rs778541089	missense variant	-	NC_000003.12:g.129573700T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile911Val	rs778541089	missense variant	-	NC_000003.12:g.129573700T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg912Gln	rs200244965	missense variant	-	NC_000003.12:g.129573696C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg912Ter	rs1335979960	stop gained	-	NC_000003.12:g.129573697G>A	gnomAD
PLXND1	Q9Y4D7	p.Gly913Glu	rs986929788	missense variant	-	NC_000003.12:g.129573693C>T	TOPMed
PLXND1	Q9Y4D7	p.Gly913Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129573694C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Leu916Met	rs955079191	missense variant	-	NC_000003.12:g.129573685G>T	TOPMed
PLXND1	Q9Y4D7	p.Gly917Asp	rs376073785	missense variant	-	NC_000003.12:g.129573681C>T	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg918Gly	rs1393030164	missense variant	-	NC_000003.12:g.129573679G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg918Gln	rs767215800	missense variant	-	NC_000003.12:g.129573678C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg918Leu	rs767215800	missense variant	-	NC_000003.12:g.129573678C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg919Gln	rs774136197	missense variant	-	NC_000003.12:g.129573675C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg919Trp	rs761870212	missense variant	-	NC_000003.12:g.129573676G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu920Phe	rs1161559840	missense variant	-	NC_000003.12:g.129573673G>A	gnomAD
PLXND1	Q9Y4D7	p.Asp922Asn	rs764275076	missense variant	-	NC_000003.12:g.129573667C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val923Met	rs762979740	missense variant	-	NC_000003.12:g.129573664C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly926Ser	rs375475115	missense variant	-	NC_000003.12:g.129573655C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly926Cys	rs375475115	missense variant	-	NC_000003.12:g.129573655C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val927Leu	rs140355020	missense variant	-	NC_000003.12:g.129573652C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val927Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129573652C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Gly931Val	rs780775472	missense variant	-	NC_000003.12:g.129573639C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly931Asp	rs780775472	missense variant	-	NC_000003.12:g.129573639C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly931Ala	rs780775472	missense variant	-	NC_000003.12:g.129573639C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala933Asp	rs1012086244	missense variant	-	NC_000003.12:g.129573633G>T	TOPMed
PLXND1	Q9Y4D7	p.Ala933Val	rs1012086244	missense variant	-	NC_000003.12:g.129573633G>A	TOPMed
PLXND1	Q9Y4D7	p.Ala933Thr	rs1016773564	missense variant	-	NC_000003.12:g.129573634C>T	TOPMed
PLXND1	Q9Y4D7	p.Glu935Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129573628C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Pro936Ala	rs894951272	missense variant	-	NC_000003.12:g.129573625G>C	TOPMed
PLXND1	Q9Y4D7	p.Asp939Glu	rs906249435	missense variant	-	NC_000003.12:g.129573614G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp939Glu	rs906249435	missense variant	-	NC_000003.12:g.129573614G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg940Gly	rs768307077	missense variant	-	NC_000003.12:g.129573613T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr942Met	rs1438570771	missense variant	-	NC_000003.12:g.129573606G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val943Leu	rs779859622	missense variant	-	NC_000003.12:g.129573604C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser944Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129573600G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu945Lys	rs1161680386	missense variant	-	NC_000003.12:g.129573598C>T	gnomAD
PLXND1	Q9Y4D7	p.Glu946Gln	rs781091668	missense variant	-	NC_000003.12:g.129573595C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val948Met	rs754117151	missense variant	-	NC_000003.12:g.129572937C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala954Thr	rs1450403986	missense variant	-	NC_000003.12:g.129572919C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro955Leu	rs144458113	missense variant	-	NC_000003.12:g.129572915G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro957Ser	rs773782221	missense variant	-	NC_000003.12:g.129572910G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro957Arg	rs767983898	missense variant	-	NC_000003.12:g.129572909G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro957Thr	rs773782221	missense variant	-	NC_000003.12:g.129572910G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro957Leu	rs767983898	missense variant	-	NC_000003.12:g.129572909G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser959Ter	COSM6163244	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129572903G>C	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Gly960Asp	rs1183289492	missense variant	-	NC_000003.12:g.129572900C>T	gnomAD
PLXND1	Q9Y4D7	p.Gly960Ser	rs1162854718	missense variant	-	NC_000003.12:g.129572901C>T	TOPMed
PLXND1	Q9Y4D7	p.Thr963Ile	rs375900369	missense variant	-	NC_000003.12:g.129572891G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val964Met	rs553781761	missense variant	-	NC_000003.12:g.129572889C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala966Thr	rs758164377	missense variant	-	NC_000003.12:g.129572883C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys968Glu	rs1031013150	missense variant	-	NC_000003.12:g.129572877T>C	TOPMed
PLXND1	Q9Y4D7	p.Glu969Asp	rs138766960	missense variant	-	NC_000003.12:g.129572872C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu969Lys	rs748119471	missense variant	-	NC_000003.12:g.129572874C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly970Val	rs1230278028	missense variant	-	NC_000003.12:g.129572870C>A	gnomAD
PLXND1	Q9Y4D7	p.Ser972Phe	rs898065802	missense variant	-	NC_000003.12:g.129572864G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg973Trp	rs755104737	missense variant	-	NC_000003.12:g.129572862G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg973Gln	rs200818763	missense variant	-	NC_000003.12:g.129572861C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg975His	rs200800403	missense variant	-	NC_000003.12:g.129572855C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg975Cys	rs766477772	missense variant	-	NC_000003.12:g.129572856G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr978Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129572846T>G	NCI-TCGA
PLXND1	Q9Y4D7	p.Val979Met	rs372525375	missense variant	-	NC_000003.12:g.129572844C>T	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val979Ala	rs1405973711	missense variant	-	NC_000003.12:g.129572843A>G	TOPMed
PLXND1	Q9Y4D7	p.Leu980Met	rs1369668259	missense variant	-	NC_000003.12:g.129572748G>T	gnomAD
PLXND1	Q9Y4D7	p.Pro981Arg	rs1297651687	missense variant	-	NC_000003.12:g.129572744G>C	gnomAD
PLXND1	Q9Y4D7	p.His984Gln	rs760187831	missense variant	-	NC_000003.12:g.129572734G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser985Phe	rs750005799	missense variant	-	NC_000003.12:g.129572732G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu987Lys	rs1466364174	missense variant	-	NC_000003.12:g.129572727C>T	gnomAD
PLXND1	Q9Y4D7	p.Thr989Ala	rs1360641621	missense variant	-	NC_000003.12:g.129572721T>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr989Ser	rs1360641621	missense variant	-	NC_000003.12:g.129572721T>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met990Val	rs550715014	missense variant	-	NC_000003.12:g.129572718T>C	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly991Arg	rs761506184	missense variant	-	NC_000003.12:g.129572715C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro992Ser	rs1394627602	missense variant	-	NC_000003.12:g.129572712G>A	gnomAD
PLXND1	Q9Y4D7	p.Lys993Asn	rs892391733	missense variant	-	NC_000003.12:g.129572707C>A	TOPMed
PLXND1	Q9Y4D7	p.Lys993Arg	rs1189322899	missense variant	-	NC_000003.12:g.129572708T>C	TOPMed
PLXND1	Q9Y4D7	p.Ala994Val	rs1246431449	missense variant	-	NC_000003.12:g.129572705G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala994Ser	rs1451348357	missense variant	-	NC_000003.12:g.129572706C>A	gnomAD
PLXND1	Q9Y4D7	p.Gly995Arg	rs769789665	missense variant	-	NC_000003.12:g.129572703C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly996Asp	rs745795153	missense variant	-	NC_000003.12:g.129572699C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg998Lys	rs1347781954	missense variant	-	NC_000003.12:g.129572693C>T	gnomAD
PLXND1	Q9Y4D7	p.Thr1000Ile	rs778008007	missense variant	-	NC_000003.12:g.129572687G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1000Ala	rs747234882	missense variant	-	NC_000003.12:g.129572688T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1001Val	rs1396201969	missense variant	-	NC_000003.12:g.129572685T>C	gnomAD
PLXND1	Q9Y4D7	p.His1002Arg	rs758707517	missense variant	-	NC_000003.12:g.129572681T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asn1004Lys	rs753045849	missense variant	-	NC_000003.12:g.129572674A>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1005Val	rs1371104255	missense variant	-	NC_000003.12:g.129572672T>A	gnomAD
PLXND1	Q9Y4D7	p.Gly1009Ser	rs1424579451	missense variant	-	NC_000003.12:g.129572661C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser1010Cys	rs1485515307	missense variant	-	NC_000003.12:g.129572657G>C	gnomAD
PLXND1	Q9Y4D7	p.Ser1010Ala	rs756720065	missense variant	-	NC_000003.12:g.129572658A>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1011Lys	rs141012983	missense variant	-	NC_000003.12:g.129572655C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1012His	rs1018875695	missense variant	-	NC_000003.12:g.129572651A>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1015Val	rs1346777184	missense variant	-	NC_000003.12:g.129572643G>C	TOPMed
PLXND1	Q9Y4D7	p.Val1016Met	rs775423315	missense variant	-	NC_000003.12:g.129572640C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn1017Asp	rs765110438	missense variant	-	NC_000003.12:g.129572637T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp1018His	rs371974138	missense variant	-	NC_000003.12:g.129572634C>G	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1018Tyr	rs371974138	missense variant	-	NC_000003.12:g.129572634C>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1018Asn	rs371974138	missense variant	-	NC_000003.12:g.129572634C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1019Ala	rs368357322	missense variant	-	NC_000003.12:g.129572631T>C	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp1020Glu	rs1407901744	missense variant	-	NC_000003.12:g.129572626G>T	gnomAD
PLXND1	Q9Y4D7	p.Pro1021Leu	rs1167400911	missense variant	-	NC_000003.12:g.129572624G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1021Ser	rs773316907	missense variant	-	NC_000003.12:g.129572625G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1021His	rs1167400911	missense variant	-	NC_000003.12:g.129572624G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1021Ala	rs773316907	missense variant	-	NC_000003.12:g.129572625G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys1022Gly	rs1479179093	missense variant	-	NC_000003.12:g.129572622A>C	TOPMed
PLXND1	Q9Y4D7	p.Thr1023Met	rs376531619	missense variant	-	NC_000003.12:g.129572618G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1024Lys	rs867173213	missense variant	-	NC_000003.12:g.129572616C>T	TOPMed
PLXND1	Q9Y4D7	p.Glu1024Ala	rs891278669	missense variant	-	NC_000003.12:g.129572615T>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1024Gln	rs867173213	missense variant	-	NC_000003.12:g.129572616C>G	TOPMed
PLXND1	Q9Y4D7	p.Glu1024Asp	rs779301177	missense variant	-	NC_000003.12:g.129572614C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu1025Met	rs755309421	missense variant	-	NC_000003.12:g.129572613G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met1026Thr	rs756772865	missense variant	-	NC_000003.12:g.129572609A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1027Gly	rs202240015	missense variant	-	NC_000003.12:g.129571843G>C	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1027Cys	rs202240015	missense variant	-	NC_000003.12:g.129571843G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1027Pro	rs754831143	missense variant	-	NC_000003.12:g.129571842C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1027His	rs754831143	missense variant	-	NC_000003.12:g.129571842C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1027Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571842C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Thr1028Ala	rs753618504	missense variant	-	NC_000003.12:g.129571840T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr1030Ile	rs766270548	missense variant	-	NC_000003.12:g.129571833G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1030Ser	rs766270548	missense variant	-	NC_000003.12:g.129571833G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1031Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571830C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Ile1032Val	rs760717763	missense variant	-	NC_000003.12:g.129571828T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1032Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571826G>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala1033Thr	rs1026421973	missense variant	-	NC_000003.12:g.129571825C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1033Ser	rs1026421973	missense variant	-	NC_000003.12:g.129571825C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys1034Ser	rs767671070	missense variant	-	NC_000003.12:g.129571822A>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Cys1034Gly	rs767671070	missense variant	-	NC_000003.12:g.129571822A>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr1035Ser	rs761754387	missense variant	-	NC_000003.12:g.129571818G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro1037Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571812G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala1040Asp	rs768801485	missense variant	-	NC_000003.12:g.129571803G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1040Pro	rs774569801	missense variant	-	NC_000003.12:g.129571804C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1041Val	rs150425885	missense variant	-	NC_000003.12:g.129571801G>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1041Pro	rs1249513462	missense variant	-	NC_000003.12:g.129571800A>G	gnomAD
PLXND1	Q9Y4D7	p.Pro1042Arg	rs140515853	missense variant	-	NC_000003.12:g.129571797G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1042Leu	rs140515853	missense variant	-	NC_000003.12:g.129571797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1044Leu	rs867989433	missense variant	-	NC_000003.12:g.129571791G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1044Ala	COSM1308551	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571792G>C	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Val1047Leu	rs771634154	missense variant	-	NC_000003.12:g.129571783C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1047Met	rs771634154	missense variant	-	NC_000003.12:g.129571783C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1047Glu	rs1435803735	missense variant	-	NC_000003.12:g.129571782A>T	TOPMed
PLXND1	Q9Y4D7	p.Cys1048Tyr	rs778709286	missense variant	-	NC_000003.12:g.129571779C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1049Ala	rs1271858561	missense variant	-	NC_000003.12:g.129571776A>G	TOPMed
PLXND1	Q9Y4D7	p.Arg1050Cys	rs1365969788	missense variant	-	NC_000003.12:g.129571774G>A	gnomAD
PLXND1	Q9Y4D7	p.Arg1050Gly	rs1365969788	missense variant	-	NC_000003.12:g.129571774G>C	gnomAD
PLXND1	Q9Y4D7	p.Arg1050His	rs754741405	missense variant	-	NC_000003.12:g.129571773C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1052Lys	rs755829115	missense variant	-	NC_000003.12:g.129571768C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1052Gln	rs755829115	missense variant	-	NC_000003.12:g.129571768C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1052Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571766C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu1052Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571767T>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu1052Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129571768C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg1053His	rs767303855	missense variant	-	NC_000003.12:g.129571764C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1053Cys	rs750400100	missense variant	-	NC_000003.12:g.129571765G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1053Leu	rs767303855	missense variant	-	NC_000003.12:g.129571764C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1054Trp	rs761956464	missense variant	-	NC_000003.12:g.129571762G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1054Gln	rs751705209	missense variant	-	NC_000003.12:g.129571761C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1055Cys	rs1391429645	missense variant	-	NC_000003.12:g.129571759C>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1055Ala	rs144636545	missense variant	-	NC_000003.12:g.129571758C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1055Arg	rs1391429645	missense variant	-	NC_000003.12:g.129571759C>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1055Val	rs144636545	missense variant	-	NC_000003.12:g.129571758C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1055Asp	rs144636545	missense variant	-	NC_000003.12:g.129571758C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1057Met	rs145714408	missense variant	-	NC_000003.12:g.129571753C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His1058Asn	rs1484529009	missense variant	-	NC_000003.12:g.129571750G>T	gnomAD
PLXND1	Q9Y4D7	p.Gly1059Ser	rs200072931	missense variant	-	NC_000003.12:g.129571747C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1059Arg	rs200072931	missense variant	-	NC_000003.12:g.129571747C>G	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn1060Ser	rs371911654	missense variant	-	NC_000003.12:g.129571743T>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn1060Thr	rs371911654	missense variant	-	NC_000003.12:g.129571743T>G	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1061His	rs768251994	missense variant	-	NC_000003.12:g.129571740A>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr1062Ile	rs1213096832	missense variant	-	NC_000003.12:g.129571737G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1062Asn	rs1213096832	missense variant	-	NC_000003.12:g.129571737G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met1066Thr	rs140074711	missense variant	-	NC_000003.12:g.129571725A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met1066Leu	rs1338963319	missense variant	-	NC_000003.12:g.129571726T>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1069Leu	rs779527122	missense variant	-	NC_000003.12:g.129571716G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1071Val	rs1371912824	missense variant	-	NC_000003.12:g.129571711T>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1072Met	rs368846706	missense variant	-	NC_000003.12:g.129571707G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1073Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571705C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Pro1076Ser	COSM3587253	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571696G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Pro1076Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571695G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg1077His	rs764196524	missense variant	-	NC_000003.12:g.129571692C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1077Cys	rs370292037	missense variant	-	NC_000003.12:g.129571693G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1078Cys	rs752984753	missense variant	-	NC_000003.12:g.129571690G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1078His	rs139105373	missense variant	-	NC_000003.12:g.129571689C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1079Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571686C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Pro1080Leu	rs1004674270	missense variant	-	NC_000003.12:g.129571683G>A	TOPMed
PLXND1	Q9Y4D7	p.Val1081Phe	rs1179491459	missense variant	-	NC_000003.12:g.129571681C>A	TOPMed
PLXND1	Q9Y4D7	p.Ser1082Gly	rs776923438	missense variant	-	NC_000003.12:g.129571678T>C	ExAC
PLXND1	Q9Y4D7	p.Gly1084Ser	rs762376973	missense variant	-	NC_000003.12:g.129571595C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1089Met	rs774922192	missense variant	-	NC_000003.12:g.129571580C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1092Gly	rs770731753	missense variant	-	NC_000003.12:g.129571570T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1093Gly	rs748102549	missense variant	-	NC_000003.12:g.129571568G>C	ExAC,TOPMed
PLXND1	Q9Y4D7	p.Arg1093Cys	rs748102549	missense variant	-	NC_000003.12:g.129571568G>A	ExAC,TOPMed
PLXND1	Q9Y4D7	p.Arg1093Ser	rs748102549	missense variant	-	NC_000003.12:g.129571568G>T	ExAC,TOPMed
PLXND1	Q9Y4D7	p.Arg1093His	rs372693427	missense variant	-	NC_000003.12:g.129571567C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met1096Thr	rs1330979104	missense variant	-	NC_000003.12:g.129571558A>G	TOPMed
PLXND1	Q9Y4D7	p.Met1096Val	rs1320735027	missense variant	-	NC_000003.12:g.129571559T>C	gnomAD
PLXND1	Q9Y4D7	p.Val1097Ala	rs200409964	missense variant	-	NC_000003.12:g.129571555A>G	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln1098His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571551C>G	NCI-TCGA
PLXND1	Q9Y4D7	p.Gln1098His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571551C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Asn1099Ser	rs750885708	missense variant	-	NC_000003.12:g.129571549T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asn1099His	rs756552931	missense variant	-	NC_000003.12:g.129571550T>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1100Met	rs767984224	missense variant	-	NC_000003.12:g.129571547C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Met1102Leu	rs1452595807	missense variant	-	NC_000003.12:g.129571541T>G	gnomAD
PLXND1	Q9Y4D7	p.Val1104Ile	rs141540298	missense variant	-	NC_000003.12:g.129571535C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His1105Leu	rs776276010	missense variant	-	NC_000003.12:g.129571531T>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.His1105Tyr	rs1226680275	missense variant	-	NC_000003.12:g.129571532G>A	TOPMed
PLXND1	Q9Y4D7	p.His1105Arg	rs776276010	missense variant	-	NC_000003.12:g.129571531T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.His1106Gln	rs1259297987	missense variant	-	NC_000003.12:g.129571527G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1108Asp	rs770500559	missense variant	-	NC_000003.12:g.129571522C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1109Trp	rs1339665520	missense variant	-	NC_000003.12:g.129571520G>A	TOPMed
PLXND1	Q9Y4D7	p.Arg1109Gln	rs139947135	missense variant	-	NC_000003.12:g.129571519C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1110Lys	COSM3587251	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571517C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Pro1111Ser	rs1283013477	missense variant	-	NC_000003.12:g.129571514G>A	gnomAD
PLXND1	Q9Y4D7	p.Pro1111Leu	rs201941160	missense variant	-	NC_000003.12:g.129571513G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1112Met	rs146029556	missense variant	-	NC_000003.12:g.129571510G>A	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu1113Phe	rs769967463	missense variant	-	NC_000003.12:g.129571303G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Cys1114Ser	COSM3992716	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571299C>G	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Val1116Ile	rs1471674161	missense variant	-	NC_000003.12:g.129571294C>T	TOPMed
PLXND1	Q9Y4D7	p.Val1116Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571293A>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Asn1118Thr	rs1485630702	missense variant	-	NC_000003.12:g.129571287T>G	gnomAD
PLXND1	Q9Y4D7	p.Thr1120Asn	rs746126985	missense variant	-	NC_000003.12:g.129571281G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1122Thr	rs1346327376	missense variant	-	NC_000003.12:g.129571275A>G	TOPMed
PLXND1	Q9Y4D7	p.Thr1123Ala	rs1292149795	missense variant	-	NC_000003.12:g.129571273T>C	TOPMed
PLXND1	Q9Y4D7	p.Cys1124Tyr	rs1336722472	missense variant	-	NC_000003.12:g.129571269C>T	gnomAD
PLXND1	Q9Y4D7	p.Pro1125Leu	rs371946568	missense variant	-	NC_000003.12:g.129571266G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1126Phe	COSM4859102	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571263G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Pro1127Leu	rs1351045883	missense variant	-	NC_000003.12:g.129571260G>A	gnomAD
PLXND1	Q9Y4D7	p.Gly1128Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571258C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala1129Val	rs1393243018	missense variant	-	NC_000003.12:g.129571254G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala1133Thr	rs755580777	missense variant	-	NC_000003.12:g.129571243C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1135Val	rs368894810	missense variant	-	NC_000003.12:g.129571236G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Phe1139Leu	rs763778154	missense variant	-	NC_000003.12:g.129571225A>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Phe1140Leu	rs955862564	missense variant	-	NC_000003.12:g.129571222A>G	gnomAD
PLXND1	Q9Y4D7	p.Ile1141Val	rs1210135132	missense variant	-	NC_000003.12:g.129571219T>C	gnomAD
PLXND1	Q9Y4D7	p.Arg1144Trp	rs763027888	missense variant	-	NC_000003.12:g.129571210G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1144Gln	rs775532260	missense variant	-	NC_000003.12:g.129571209C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1144Gly	rs763027888	missense variant	-	NC_000003.12:g.129571210G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1147Thr	rs369266139	missense variant	-	NC_000003.12:g.129571201C>T	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1147Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571200G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Asp1148Glu	rs148029269	missense variant	-	NC_000003.12:g.129571196G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1149Lys	rs771247738	missense variant	-	NC_000003.12:g.129571195C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1150Leu	rs143564778	missense variant	-	NC_000003.12:g.129571192C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1153Ser	rs1441995158	missense variant	-	NC_000003.12:g.129571183C>A	gnomAD
PLXND1	Q9Y4D7	p.Glu1154Gly	rs758658232	missense variant	-	NC_000003.12:g.129571179T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu1157Val	rs1425726953	missense variant	-	NC_000003.12:g.129571171G>C	TOPMed
PLXND1	Q9Y4D7	p.Asp1158Asn	rs1273421282	missense variant	-	NC_000003.12:g.129571168C>T	gnomAD
PLXND1	Q9Y4D7	p.Glu1160Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129571162C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu1160Lys	rs755627919	missense variant	-	NC_000003.12:g.129571162C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1162Ser	rs778884287	missense variant	-	NC_000003.12:g.129571156C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1164Trp	rs112106611	missense variant	-	NC_000003.12:g.129571150G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1164Gln	rs138816015	missense variant	-	NC_000003.12:g.129571149C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1164Gly	rs112106611	missense variant	-	NC_000003.12:g.129571150G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1165Asp	rs762790668	missense variant	-	NC_000003.12:g.129571146C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1169His	rs200890421	missense variant	-	NC_000003.12:g.129571134C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1169Ser	rs144843366	missense variant	-	NC_000003.12:g.129571135G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1169Leu	rs200890421	missense variant	-	NC_000003.12:g.129571134C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1169Cys	rs144843366	missense variant	-	NC_000003.12:g.129571135G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1174His	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571119G>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Phe1178Leu	rs776826018	missense variant	-	NC_000003.12:g.129571106G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr1180Met	rs528635984	missense variant	-	NC_000003.12:g.129571101G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys1182Asn	rs1235120980	missense variant	-	NC_000003.12:g.129571094C>G	gnomAD
PLXND1	Q9Y4D7	p.Arg1183Thr	rs1350095945	missense variant	-	NC_000003.12:g.129571092C>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys1188Glu	rs1301554901	missense variant	-	NC_000003.12:g.129571078T>C	gnomAD
PLXND1	Q9Y4D7	p.Pro1191Thr	rs1014375224	missense variant	-	NC_000003.12:g.129571069G>T	TOPMed
PLXND1	Q9Y4D7	p.Gly1192Trp	rs748452504	missense variant	-	NC_000003.12:g.129571066C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly1192Arg	rs748452504	missense variant	-	NC_000003.12:g.129571066C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1193Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571063C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Pro1194Leu	rs1031715150	missense variant	-	NC_000003.12:g.129571059G>A	TOPMed
PLXND1	Q9Y4D7	p.Pro1194Ala	rs769210323	missense variant	-	NC_000003.12:g.129571060G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu1197Ile	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129571051G>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Val1198Ile	rs780799217	missense variant	-	NC_000003.12:g.129571048C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1202Gly	rs770268179	missense variant	-	NC_000003.12:g.129570931T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser1205Cys	rs1282872800	missense variant	-	NC_000003.12:g.129570923T>A	TOPMed
PLXND1	Q9Y4D7	p.Gln1209Arg	rs772894071	missense variant	-	NC_000003.12:g.129570910T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.His1211Gln	rs552585270	missense variant	-	NC_000003.12:g.129570903G>C	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1212Ala	rs907623473	missense variant	-	NC_000003.12:g.129570901T>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1214Trp	rs1052503185	missense variant	-	NC_000003.12:g.129570896G>A	gnomAD
PLXND1	Q9Y4D7	p.Arg1214Gln	rs147110369	missense variant	-	NC_000003.12:g.129570895C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1215Leu	rs576577594	missense variant	-	NC_000003.12:g.129570893C>G	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys1216Asn	rs756056909	missense variant	-	NC_000003.12:g.129570888C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1217Thr	rs1457476314	missense variant	-	NC_000003.12:g.129570886A>G	gnomAD
PLXND1	Q9Y4D7	p.Val1220Ile	rs1273988496	missense variant	-	NC_000003.12:g.129570878C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser1221Arg	rs1215951455	missense variant	-	NC_000003.12:g.129570875T>G	gnomAD
PLXND1	Q9Y4D7	p.Asp1223Asn	rs1273132717	missense variant	-	NC_000003.12:g.129570869C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1223His	rs1273132717	missense variant	-	NC_000003.12:g.129570869C>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gln1225Lys	rs1374937089	missense variant	-	NC_000003.12:g.129570863G>T	gnomAD
PLXND1	Q9Y4D7	p.Gln1225His	rs978592865	missense variant	-	NC_000003.12:g.129570861C>G	TOPMed
PLXND1	Q9Y4D7	p.Val1227Asp	rs757281679	missense variant	-	NC_000003.12:g.129570856A>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp1229Tyr	rs1440757395	missense variant	-	NC_000003.12:g.129570851C>A	gnomAD
PLXND1	Q9Y4D7	p.Ile1231Leu	rs764237268	missense variant	-	NC_000003.12:g.129570845T>G	ExAC
PLXND1	Q9Y4D7	p.Cys1234Arg	rs765611182	missense variant	-	NC_000003.12:g.129570836A>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1235Leu	rs777234602	missense variant	-	NC_000003.12:g.129570832G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asn1237Ser	rs368046868	missense variant	-	NC_000003.12:g.129570826T>C	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asn1237Lys	rs373964333	missense variant	-	NC_000003.12:g.129570825G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1238Gly	rs1253904861	missense variant	-	NC_000003.12:g.129570823T>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1238Lys	rs915858830	missense variant	-	NC_000003.12:g.129570824C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1238Asp	rs775238537	missense variant	-	NC_000003.12:g.129570822C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1240Pro	rs1225453591	missense variant	-	NC_000003.12:g.129570817A>G	TOPMed
PLXND1	Q9Y4D7	p.Ala1242Val	rs781053507	missense variant	-	NC_000003.12:g.129570811G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1242Glu	rs781053507	missense variant	-	NC_000003.12:g.129570811G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1242Thr	rs140631068	missense variant	-	NC_000003.12:g.129570812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1242Ser	rs140631068	missense variant	-	NC_000003.12:g.129570812C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1244Met	rs758594847	missense variant	-	NC_000003.12:g.129570806C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1244Leu	rs758594847	missense variant	-	NC_000003.12:g.129570806C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln1246Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129570800G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Pro1248Ser	rs765548071	missense variant	-	NC_000003.12:g.129570794G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1251Met	rs755398573	missense variant	-	NC_000003.12:g.129569955G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1253Ile	rs754320128	missense variant	-	NC_000003.12:g.129569951C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1254Glu	COSM3695807	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129569947C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ile1260Thr	rs1193998857	missense variant	-	NC_000003.12:g.129569929A>G	TOPMed
PLXND1	Q9Y4D7	p.Ala1261Thr	rs572370997	missense variant	-	NC_000003.12:g.129569927C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1261Ser	rs572370997	missense variant	-	NC_000003.12:g.129569927C>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1262Ala	rs750905119	missense variant	-	NC_000003.12:g.129569924T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr1262Ile	rs1482623768	missense variant	-	NC_000003.12:g.129569923G>A	gnomAD
PLXND1	Q9Y4D7	p.Leu1263Val	COSM3587244	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129569921G>C	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Gln1264Arg	rs762468704	missense variant	-	NC_000003.12:g.129569917T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gln1264Leu	rs762468704	missense variant	-	NC_000003.12:g.129569917T>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1265Pro	rs775012478	missense variant	-	NC_000003.12:g.129569914A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly1266Arg	rs148418284	missense variant	-	NC_000003.12:g.129569912C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1266Arg	rs148418284	missense variant	-	NC_000003.12:g.129569912C>G	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1266Ala	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129569911C>G	NCI-TCGA
PLXND1	Q9Y4D7	p.Gly1267Asp	rs759179864	missense variant	-	NC_000003.12:g.129569908C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1267Ser	rs1455634637	missense variant	-	NC_000003.12:g.129569909C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1268Thr	rs776456647	missense variant	-	NC_000003.12:g.129569905C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser1268GlnPheSerTerUnkUnk	COSM1418849	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129569907_129569908insC	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Glu1269Gln	rs770678368	missense variant	-	NC_000003.12:g.129569903C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1270Met	rs373240621	missense variant	-	NC_000003.12:g.129569899G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1273Phe	rs1298997689	missense variant	-	NC_000003.12:g.129569891T>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1274Leu	rs748190414	missense variant	-	NC_000003.12:g.129569888C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1274Met	rs748190414	missense variant	-	NC_000003.12:g.129569888C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1275Phe	rs778853676	missense variant	-	NC_000003.12:g.129569884G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1276Val	rs377240834	missense variant	-	NC_000003.12:g.129569882T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1276Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129569881A>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Val1277Ile	rs749491033	missense variant	-	NC_000003.12:g.129569879C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1277Ala	rs1422784258	missense variant	-	NC_000003.12:g.129569878A>G	gnomAD
PLXND1	Q9Y4D7	p.Ser1280Gly	rs780597839	missense variant	-	NC_000003.12:g.129569870T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1281Ile	rs780108033	missense variant	-	NC_000003.12:g.129569867C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1283Val	rs1246847900	missense variant	-	NC_000003.12:g.129569861G>C	TOPMed
PLXND1	Q9Y4D7	p.Leu1285Phe	rs759222944	missense variant	-	NC_000003.12:g.129569855G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1285Ile	rs759222944	missense variant	-	NC_000003.12:g.129569855G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1285Pro	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129569854A>G	NCI-TCGA
PLXND1	Q9Y4D7	p.Val1287Leu	rs772112447	missense variant	-	NC_000003.12:g.129569849C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1287Met	rs772112447	missense variant	-	NC_000003.12:g.129569849C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1287Leu	rs772112447	missense variant	-	NC_000003.12:g.129569849C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1288Met	rs143319606	missense variant	-	NC_000003.12:g.129569846C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Phe1291Leu	rs139808034	missense variant	-	NC_000003.12:g.129567798G>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1292Ile	rs145949325	missense variant	-	NC_000003.12:g.129567797C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1292Phe	rs145949325	missense variant	-	NC_000003.12:g.129567797C>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys1294Arg	rs1395787465	missense variant	-	NC_000003.12:g.129567791A>G	TOPMed
PLXND1	Q9Y4D7	p.Arg1298Gln	rs749316408	missense variant	-	NC_000003.12:g.129567778C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1298Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129567779G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg1299His	rs775710332	missense variant	-	NC_000003.12:g.129567775C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1301Lys	rs1285397379	missense variant	-	NC_000003.12:g.129567770C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1302Ser	rs1235376271	missense variant	-	NC_000003.12:g.129567767G>T	gnomAD
PLXND1	Q9Y4D7	p.Arg1302His	rs369890848	missense variant	-	NC_000003.12:g.129567766C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Trp1304Ter	COSM3587242	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129567760C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Thr1307Met	rs1327363739	missense variant	-	NC_000003.12:g.129567751G>A	gnomAD
PLXND1	Q9Y4D7	p.Gln1310Ter	rs1359407974	stop gained	-	NC_000003.12:g.129567743G>A	gnomAD
PLXND1	Q9Y4D7	p.Met1311Ile	rs778192749	missense variant	-	NC_000003.12:g.129567738C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1313Lys	rs1399649840	missense variant	-	NC_000003.12:g.129567734C>T	gnomAD
PLXND1	Q9Y4D7	p.Arg1319Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129567716G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg1323Cys	COSM3587240	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129567704G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Arg1323His	COSM284106	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129567703C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Gly1325Ala	rs752646155	missense variant	-	NC_000003.12:g.129567604C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1327Thr	rs1337173064	missense variant	-	NC_000003.12:g.129567599C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala1327Val	rs1328826189	missense variant	-	NC_000003.12:g.129567598G>A	gnomAD
PLXND1	Q9Y4D7	p.Thr1331Ala	rs759471877	missense variant	-	NC_000003.12:g.129567587T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp1332Asn	rs1403519007	missense variant	-	NC_000003.12:g.129567584C>T	gnomAD
PLXND1	Q9Y4D7	p.Asp1332Ter	COSM1038121	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129567581_129567584TGTC>-	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Met1333Val	rs139210040	missense variant	-	NC_000003.12:g.129567581T>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met1333Leu	rs139210040	missense variant	-	NC_000003.12:g.129567581T>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1336Ile	rs760872411	missense variant	-	NC_000003.12:g.129567572G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu1336Val	rs760872411	missense variant	-	NC_000003.12:g.129567572G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys1338Met	rs201890582	missense variant	-	NC_000003.12:g.129567565T>A	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys1338Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129567565T>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Leu1340Pro	rs141261540	missense variant	-	NC_000003.12:g.129567559A>G	ESP,gnomAD
PLXND1	Q9Y4D7	p.Arg1342Cys	rs774664636	missense variant	-	NC_000003.12:g.129567554G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1342Gly	rs774664636	missense variant	-	NC_000003.12:g.129567554G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1342His	rs769351907	missense variant	-	NC_000003.12:g.129567553C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1343Asn	rs1289714715	missense variant	-	NC_000003.12:g.129567550C>T	gnomAD
PLXND1	Q9Y4D7	p.Gln1344Pro	rs1433776539	missense variant	-	NC_000003.12:g.129567547T>G	TOPMed
PLXND1	Q9Y4D7	p.Gly1345Ser	rs1223886297	missense variant	-	NC_000003.12:g.129567545C>T	gnomAD
PLXND1	Q9Y4D7	p.Pro1347His	rs1352157495	missense variant	-	NC_000003.12:g.129567538G>T	gnomAD
PLXND1	Q9Y4D7	p.Glu1350Asp	rs780742135	missense variant	-	NC_000003.12:g.129567528C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.His1353Tyr	rs183250689	missense variant	-	NC_000003.12:g.129567521G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1355Met	rs777745581	missense variant	-	NC_000003.12:g.129567515C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1357His	rs752691422	missense variant	-	NC_000003.12:g.129567508C>T	ExAC
PLXND1	Q9Y4D7	p.Arg1357Cys	rs926244669	missense variant	-	NC_000003.12:g.129567509G>A	gnomAD
PLXND1	Q9Y4D7	p.Arg1357Ser	rs926244669	missense variant	-	NC_000003.12:g.129567509G>T	gnomAD
PLXND1	Q9Y4D7	p.Arg1357Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129567508C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Thr1358Ile	rs980521019	missense variant	-	NC_000003.12:g.129567505G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1358Ser	rs980521019	missense variant	-	NC_000003.12:g.129567505G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Phe1360Leu	rs1439304202	missense variant	-	NC_000003.12:g.129567498G>T	gnomAD
PLXND1	Q9Y4D7	p.Lys1362Asn	rs1346857374	missense variant	-	NC_000003.12:g.129567492C>G	TOPMed
PLXND1	Q9Y4D7	p.Lys1362Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129567492C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu1368Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129566616C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg1370His	rs766476368	missense variant	-	NC_000003.12:g.129566609C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1370Cys	rs753775752	missense variant	-	NC_000003.12:g.129566610G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1370Leu	rs766476368	missense variant	-	NC_000003.12:g.129566609C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1372Met	rs750649180	missense variant	-	NC_000003.12:g.129566604C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1372Leu	rs750649180	missense variant	-	NC_000003.12:g.129566604C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro1374Arg	rs767794921	missense variant	-	NC_000003.12:g.129566597G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro1374Ser	rs1358739852	missense variant	-	NC_000003.12:g.129566598G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1375Thr	rs762010911	missense variant	-	NC_000003.12:g.129566595A>T	ExAC
PLXND1	Q9Y4D7	p.Ser1375Phe	rs1422136267	missense variant	-	NC_000003.12:g.129566594G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1378Phe	rs774629970	missense variant	-	NC_000003.12:g.129566586G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln1381Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129566577G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Gly1382Asp	rs200954386	missense variant	-	NC_000003.12:g.129566573C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1383Arg	COSM1038118	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129566569G>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ser1383Gly	rs764490015	missense variant	-	NC_000003.12:g.129566571T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gln1385Arg	rs763404746	missense variant	-	NC_000003.12:g.129566564T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1391Gln	rs377733691	missense variant	-	NC_000003.12:g.129566546G>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1391Ser	rs1251461055	missense variant	-	NC_000003.12:g.129566547G>A	gnomAD
PLXND1	Q9Y4D7	p.Lys1397Gln	rs760192767	missense variant	-	NC_000003.12:g.129566529T>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys1397Glu	rs760192767	missense variant	-	NC_000003.12:g.129566529T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1400Gln	rs771675552	missense variant	-	NC_000003.12:g.129566011C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1400Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129566011C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Ser1401Asn	rs761402697	missense variant	-	NC_000003.12:g.129566007C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1403Trp	rs774005275	missense variant	-	NC_000003.12:g.129566002G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1403Gln	rs768348972	missense variant	-	NC_000003.12:g.129566001C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1403Leu	rs768348972	missense variant	-	NC_000003.12:g.129566001C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1403Gly	rs774005275	missense variant	-	NC_000003.12:g.129566002G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met1406Val	rs144355531	missense variant	-	NC_000003.12:g.129565993T>C	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met1406Leu	rs144355531	missense variant	-	NC_000003.12:g.129565993T>G	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1407Gly	rs1411673763	missense variant	-	NC_000003.12:g.129565989T>C	TOPMed
PLXND1	Q9Y4D7	p.Glu1408Lys	COSM3587238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565987C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Glu1408Asp	rs1311592465	missense variant	-	NC_000003.12:g.129565985C>G	TOPMed
PLXND1	Q9Y4D7	p.Ile1410Val	rs769773155	missense variant	-	NC_000003.12:g.129565981T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1412Met	rs2625973	missense variant	-	NC_000003.12:g.129565975A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1412Val	rs2625973	missense variant	-	NC_000003.12:g.129565975A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1412Val	rs2625973	missense variant	-	NC_000003.12:g.129565975A>C	UniProt,dbSNP
PLXND1	Q9Y4D7	p.Leu1412Val	VAR_056724	missense variant	-	NC_000003.12:g.129565975A>C	UniProt
PLXND1	Q9Y4D7	p.Leu1412Ser	COSM4859453	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565974A>G	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ser1414Phe	rs781284587	missense variant	-	NC_000003.12:g.129565968G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1415Pro	rs1160160572	missense variant	-	NC_000003.12:g.129565966A>G	gnomAD
PLXND1	Q9Y4D7	p.Ser1415Leu	rs1306099194	missense variant	-	NC_000003.12:g.129565965G>A	TOPMed
PLXND1	Q9Y4D7	p.Leu1416Pro	COSM4113370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565962A>G	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Leu1417Val	rs751747073	missense variant	-	NC_000003.12:g.129565960G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asn1418Asp	rs777989365	missense variant	-	NC_000003.12:g.129565957T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.His1421Pro	rs758540360	missense variant	-	NC_000003.12:g.129565947T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1425Ile	rs765672196	missense variant	-	NC_000003.12:g.129565936C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1427Ile	rs1208017383	missense variant	-	NC_000003.12:g.129565930C>T	TOPMed
PLXND1	Q9Y4D7	p.Ala1429Thr	rs754355224	missense variant	-	NC_000003.12:g.129565924C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1429Val	rs766958166	missense variant	-	NC_000003.12:g.129565923G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1431Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129565917T>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Gln1432Glu	rs1299872046	missense variant	-	NC_000003.12:g.129565915G>C	gnomAD
PLXND1	Q9Y4D7	p.Lys1434Gln	rs1427649723	missense variant	-	NC_000003.12:g.129565909T>G	TOPMed
PLXND1	Q9Y4D7	p.Lys1434Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129565907C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Asp1435Asn	rs763865454	missense variant	-	NC_000003.12:g.129565906C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1437Val	rs762492313	missense variant	-	NC_000003.12:g.129565899G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1438Ala	rs769541329	missense variant	-	NC_000003.12:g.129565896A>G	ExAC
PLXND1	Q9Y4D7	p.Arg1439Cys	rs868333327	missense variant	-	NC_000003.12:g.129565894G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1439His	rs199911198	missense variant	-	NC_000003.12:g.129565893C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1440Gly	rs1198146756	missense variant	-	NC_000003.12:g.129565890T>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1440Ala	rs1198146756	missense variant	-	NC_000003.12:g.129565890T>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1440Asn	rs747176885	missense variant	-	NC_000003.12:g.129565891C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1440His	rs747176885	missense variant	-	NC_000003.12:g.129565891C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys1442Tyr	rs1200258967	missense variant	-	NC_000003.12:g.129565536C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser1446Leu	rs1217331466	missense variant	-	NC_000003.12:g.129565524G>A	gnomAD
PLXND1	Q9Y4D7	p.Ile1450Met	rs748404760	missense variant	-	NC_000003.12:g.129565511G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1450Val	rs773384628	missense variant	-	NC_000003.12:g.129565513T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1451Thr	rs779220362	missense variant	-	NC_000003.12:g.129565510C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1451Val	rs368069685	missense variant	-	NC_000003.12:g.129565509G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His1453Gln	rs780259165	missense variant	-	NC_000003.12:g.129565502G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1454Ser	rs756682934	missense variant	-	NC_000003.12:g.129565501C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly1454Asp	COSM4113368	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565500C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Leu1456ThrLeuTerGluThrSerLeuAlaVal	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129565493_129565494insACTGCAAGACTTGTCTCCTACAGAGTA	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu1457Asp	COSM3774509	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565490C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Glu1457Ter	NCI-TCGA novel	frameshift	-	NC_000003.12:g.129565492_129565493insA	NCI-TCGA
PLXND1	Q9Y4D7	p.Tyr1458Cys	rs1366987523	missense variant	-	NC_000003.12:g.129565488T>C	gnomAD
PLXND1	Q9Y4D7	p.Ser1461Asn	rs763680290	missense variant	-	NC_000003.12:g.129565479C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys1464Glu	rs1240397688	missense variant	-	NC_000003.12:g.129565471T>C	gnomAD
PLXND1	Q9Y4D7	p.Glu1465Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129565467T>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Val1468Glu	rs1165806692	missense variant	-	NC_000003.12:g.129565458A>T	TOPMed
PLXND1	Q9Y4D7	p.Leu1470Phe	rs1410420620	missense variant	-	NC_000003.12:g.129565453G>A	gnomAD
PLXND1	Q9Y4D7	p.Ile1471Thr	rs1389101617	missense variant	-	NC_000003.12:g.129565449A>G	TOPMed
PLXND1	Q9Y4D7	p.Ile1471Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129565450T>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala1473Val	rs1229559163	missense variant	-	NC_000003.12:g.129565443G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1473Thr	rs759179980	missense variant	-	NC_000003.12:g.129565444C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser1474Trp	rs1353620974	missense variant	-	NC_000003.12:g.129565440G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1474Leu	rs1353620974	missense variant	-	NC_000003.12:g.129565440G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1475Val	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129565437G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala1476Thr	rs551080661	missense variant	-	NC_000003.12:g.129565435C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1476Pro	rs551080661	missense variant	-	NC_000003.12:g.129565435C>G	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys1477Asn	COSM1418846	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565430C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Pro1479Leu	rs1445686401	missense variant	-	NC_000003.12:g.129565425G>A	gnomAD
PLXND1	Q9Y4D7	p.Pro1479Arg	rs1445686401	missense variant	-	NC_000003.12:g.129565425G>C	gnomAD
PLXND1	Q9Y4D7	p.Lys1480Asn	rs761918376	missense variant	-	NC_000003.12:g.129565421C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1481Phe	rs1229383802	missense variant	-	NC_000003.12:g.129565420G>A	TOPMed
PLXND1	Q9Y4D7	p.Arg1484Trp	rs867012218	missense variant	-	NC_000003.12:g.129565411G>A	TOPMed
PLXND1	Q9Y4D7	p.Arg1484Gln	COSM4819600	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565410C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Arg1485Leu	rs1388658515	missense variant	-	NC_000003.12:g.129565407C>A	gnomAD
PLXND1	Q9Y4D7	p.Arg1485Cys	rs774569045	missense variant	-	NC_000003.12:g.129565408G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1485His	rs1388658515	missense variant	-	NC_000003.12:g.129565407C>T	gnomAD
PLXND1	Q9Y4D7	p.Val1489Leu	rs769048392	missense variant	-	NC_000003.12:g.129565396C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1491Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129565390C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Met1493Val	rs1440562999	missense variant	-	NC_000003.12:g.129565384T>C	gnomAD
PLXND1	Q9Y4D7	p.Met1493Ile	rs1279886575	missense variant	-	NC_000003.12:g.129565382C>T	TOPMed
PLXND1	Q9Y4D7	p.Asn1496His	rs780496951	missense variant	-	NC_000003.12:g.129565375T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Met1498Ile	rs770002175	missense variant	-	NC_000003.12:g.129565367C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Met1502Val	rs1224389924	missense variant	-	NC_000003.12:g.129565357T>C	gnomAD
PLXND1	Q9Y4D7	p.Met1502Ile	rs1449442726	missense variant	-	NC_000003.12:g.129565355C>T	gnomAD
PLXND1	Q9Y4D7	p.Ser1504Asn	rs1444497790	missense variant	-	NC_000003.12:g.129565350C>T	TOPMed
PLXND1	Q9Y4D7	p.Cys1505Tyr	rs746397734	missense variant	-	NC_000003.12:g.129565347C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys1505Ser	rs746397734	missense variant	-	NC_000003.12:g.129565347C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1507Gln	rs766606211	missense variant	-	NC_000003.12:g.129565341C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1507Trp	rs1355417416	missense variant	-	NC_000003.12:g.129565342G>A	gnomAD
PLXND1	Q9Y4D7	p.Thr1509Met	rs377455226	missense variant	-	NC_000003.12:g.129563236G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1512Asp	rs750243218	missense variant	-	NC_000003.12:g.129563226C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1513HisPheSerTerUnkUnk	COSM5834546	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129563224G>-	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ile1521Thr	rs1406442487	missense variant	-	NC_000003.12:g.129563200A>G	gnomAD
PLXND1	Q9Y4D7	p.Ile1521Val	rs1293543085	missense variant	-	NC_000003.12:g.129563201T>C	gnomAD
PLXND1	Q9Y4D7	p.Gln1524Glu	rs751491679	missense variant	-	NC_000003.12:g.129563192G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1525Met	rs865925326	missense variant	-	NC_000003.12:g.129563187G>C	gnomAD
PLXND1	Q9Y4D7	p.Lys1527Asn	rs1390903811	missense variant	-	NC_000003.12:g.129563181C>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1529Phe	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129563176G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala1532Val	rs765431674	missense variant	-	NC_000003.12:g.129563167G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1532Thr	rs1467653750	missense variant	-	NC_000003.12:g.129563168C>T	gnomAD
PLXND1	Q9Y4D7	p.Thr1534Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129563161G>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg1538His	rs767543021	missense variant	-	NC_000003.12:g.129563149C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1538Ser	rs181182268	missense variant	-	NC_000003.12:g.129563150G>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1538Cys	rs181182268	missense variant	-	NC_000003.12:g.129563150G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1540ThrTer	rs765232687	stop gained	-	NC_000003.12:g.129563142_129563143insTAC	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser1542Asn	rs2713625	missense variant	-	NC_000003.12:g.129563137C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1542Ile	rs2713625	missense variant	-	NC_000003.12:g.129563137C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1548Gln	rs1322387238	missense variant	-	NC_000003.12:g.129563119C>T	gnomAD
PLXND1	Q9Y4D7	p.Arg1548Trp	rs779602281	missense variant	-	NC_000003.12:g.129563120G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1548Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129563119C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu1549Asp	rs755762007	missense variant	-	NC_000003.12:g.129563115C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asn1550Lys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129563112G>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Asn1550Ser	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129563113T>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Ile1551Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129563109G>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Glu1552Lys	rs757059098	missense variant	-	NC_000003.12:g.129563108C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1553Thr	rs751544605	missense variant	-	NC_000003.12:g.129563105C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys1554Asn	rs1448672576	missense variant	-	NC_000003.12:g.129563100C>A	gnomAD
PLXND1	Q9Y4D7	p.Pro1555Ser	COSM4398077	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129563099G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Arg1556Trp	rs758339726	missense variant	-	NC_000003.12:g.129563096G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1556Gln	rs373701738	missense variant	-	NC_000003.12:g.129563095C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1560Met	rs762249042	missense variant	-	NC_000003.12:g.129562934C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Gly1564Ser	rs141042157	missense variant	-	NC_000003.12:g.129562922C>T	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Cys1565Tyr	rs759181416	missense variant	-	NC_000003.12:g.129562918C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1566Asp	rs372633629	missense variant	-	NC_000003.12:g.129562915C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1566Val	rs372633629	missense variant	-	NC_000003.12:g.129562915C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1566Ala	rs372633629	missense variant	-	NC_000003.12:g.129562915C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met1567Val	rs777464518	missense variant	-	NC_000003.12:g.129562913T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Met1567Leu	rs777464518	missense variant	-	NC_000003.12:g.129562913T>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1569Leu	rs771856633	missense variant	-	NC_000003.12:g.129562906G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1572Met	rs754906198	missense variant	-	NC_000003.12:g.129562898C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1572Leu	COSM3587236	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129562898C>G	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Val1572Gly	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129562897A>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg1573Trp	rs753978969	missense variant	-	NC_000003.12:g.129562895G>A	ExAC
PLXND1	Q9Y4D7	p.Arg1573Gln	rs949896624	missense variant	-	NC_000003.12:g.129562894C>T	TOPMed
PLXND1	Q9Y4D7	p.Met1575Arg	rs1263133622	missense variant	-	NC_000003.12:g.129562888A>C	TOPMed
PLXND1	Q9Y4D7	p.Met1575Ile	rs1175592112	missense variant	-	NC_000003.12:g.129562887C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1578Asn	rs1428970424	missense variant	-	NC_000003.12:g.129562880C>T	TOPMed
PLXND1	Q9Y4D7	p.Thr1579Met	rs1263992633	missense variant	-	NC_000003.12:g.129562876G>A	gnomAD
PLXND1	Q9Y4D7	p.Leu1580Val	rs948179840	missense variant	-	NC_000003.12:g.129562874G>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gln1582His	COSM6026878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129562866C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Cys1592Phe	rs1347534380	missense variant	-	NC_000003.12:g.129562837C>A	gnomAD
PLXND1	Q9Y4D7	p.Val1595Met	rs1402998210	missense variant	-	NC_000003.12:g.129562829C>T	TOPMed
PLXND1	Q9Y4D7	p.Trp1600Cys	rs1334369379	missense variant	-	NC_000003.12:g.129562812C>A	gnomAD
PLXND1	Q9Y4D7	p.Trp1600Arg	rs1325523702	missense variant	-	NC_000003.12:g.129562814A>G	gnomAD
PLXND1	Q9Y4D7	p.Pro1601Leu	rs549172886	missense variant	-	NC_000003.12:g.129562810G>A	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1602Pro	rs376955586	missense variant	-	NC_000003.12:g.129562807C>G	ESP,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1602His	rs376955586	missense variant	-	NC_000003.12:g.129562807C>T	ESP,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1603Val	rs776316098	missense variant	-	NC_000003.12:g.129562804G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1605Asn	rs1261365512	missense variant	-	NC_000003.12:g.129562799C>T	TOPMed
PLXND1	Q9Y4D7	p.Val1606Ile	rs201851084	missense variant	-	NC_000003.12:g.129562796C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1607Glu	rs1480934691	missense variant	-	NC_000003.12:g.129562791G>T	TOPMed
PLXND1	Q9Y4D7	p.Asp1607Asn	rs748045344	missense variant	-	NC_000003.12:g.129562793C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1608Phe	rs1462977700	missense variant	-	NC_000003.12:g.129562790G>A	gnomAD
PLXND1	Q9Y4D7	p.Trp1610Cys	rs747155254	missense variant	-	NC_000003.12:g.129561899C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1612Thr	rs372292093	missense variant	-	NC_000003.12:g.129561895C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1612Val	rs1298671675	missense variant	-	NC_000003.12:g.129561894G>A	TOPMed
PLXND1	Q9Y4D7	p.Thr1615Arg	rs1414858788	missense variant	-	NC_000003.12:g.129561885G>C	gnomAD
PLXND1	Q9Y4D7	p.Gln1616His	rs1362361732	missense variant	-	NC_000003.12:g.129561881C>G	TOPMed
PLXND1	Q9Y4D7	p.Tyr1618Cys	rs755430677	missense variant	-	NC_000003.12:g.129561876T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1619Met	rs749999598	missense variant	-	NC_000003.12:g.129561872G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu1620Val	rs202179801	missense variant	-	NC_000003.12:g.129561871G>C	1000Genomes,ExAC,TOPMed
PLXND1	Q9Y4D7	p.Arg1621Gln	rs759954775	missense variant	-	NC_000003.12:g.129561867C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1625Asn	rs927967550	missense variant	-	NC_000003.12:g.129561856C>T	TOPMed
PLXND1	Q9Y4D7	p.Ser1627Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129561849G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Val1628Glu	rs1267792615	missense variant	-	NC_000003.12:g.129561846A>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1628Leu	rs763881080	missense variant	-	NC_000003.12:g.129561847C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1629Leu	rs995504168	missense variant	-	NC_000003.12:g.129561844C>G	gnomAD
PLXND1	Q9Y4D7	p.Val1629Met	rs995504168	missense variant	-	NC_000003.12:g.129561844C>T	gnomAD
PLXND1	Q9Y4D7	p.Glu1630Lys	rs1281886100	missense variant	-	NC_000003.12:g.129561841C>T	gnomAD
PLXND1	Q9Y4D7	p.Gly1632Ser	rs1239502872	missense variant	-	NC_000003.12:g.129561835C>T	TOPMed
PLXND1	Q9Y4D7	p.Arg1633His	rs769768899	missense variant	-	NC_000003.12:g.129561831C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1633Cys	rs775250489	missense variant	-	NC_000003.12:g.129561832G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1633Leu	rs769768899	missense variant	-	NC_000003.12:g.129561831C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1633Gly	rs775250489	missense variant	-	NC_000003.12:g.129561832G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys1634Glu	rs1406900579	missense variant	-	NC_000003.12:g.129561829T>C	gnomAD
PLXND1	Q9Y4D7	p.Lys1634Thr	rs759357483	missense variant	-	NC_000003.12:g.129561828T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Thr1638Met	rs966927392	missense variant	-	NC_000003.12:g.129561816G>A	TOPMed
PLXND1	Q9Y4D7	p.Ala1640Val	rs1157403299	missense variant	-	NC_000003.12:g.129561810G>A	gnomAD
PLXND1	Q9Y4D7	p.Gly1647Asp	rs1465255354	missense variant	-	NC_000003.12:g.129561699C>T	TOPMed
PLXND1	Q9Y4D7	p.Gly1647Cys	rs749816078	missense variant	-	NC_000003.12:g.129561700C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1648Ser	rs1383711525	missense variant	-	NC_000003.12:g.129561697C>A	gnomAD
PLXND1	Q9Y4D7	p.Ala1648Val	rs1317623531	missense variant	-	NC_000003.12:g.129561696G>A	gnomAD
PLXND1	Q9Y4D7	p.Met1652Val	rs146413906	missense variant	-	NC_000003.12:g.129561685T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1654Pro	rs1379121283	missense variant	-	NC_000003.12:g.129561678A>G	TOPMed
PLXND1	Q9Y4D7	p.Leu1654Ile	rs201683490	missense variant	-	NC_000003.12:g.129561679G>T	1000Genomes,gnomAD
PLXND1	Q9Y4D7	p.Leu1654Phe	rs201683490	missense variant	-	NC_000003.12:g.129561679G>A	1000Genomes,gnomAD
PLXND1	Q9Y4D7	p.Ile1655Val	rs1332608650	missense variant	-	NC_000003.12:g.129561676T>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1655Thr	rs756631040	missense variant	-	NC_000003.12:g.129561675A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp1656Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129561673C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Lys1657Glu	rs1352256671	missense variant	-	NC_000003.12:g.129561670T>C	gnomAD
PLXND1	Q9Y4D7	p.Asp1659Glu	rs1169054501	missense variant	-	NC_000003.12:g.129561662G>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1664Pro	rs777229757	missense variant	-	NC_000003.12:g.129561648C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1664Gln	rs777229757	missense variant	-	NC_000003.12:g.129561648C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1664Ter	rs1405609829	stop gained	-	NC_000003.12:g.129561649G>A	gnomAD
PLXND1	Q9Y4D7	p.Lys1666Asn	rs1261767930	missense variant	-	NC_000003.12:g.129560719T>G	gnomAD
PLXND1	Q9Y4D7	p.Glu1671Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129560706C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Lys1672Asn	rs775744687	missense variant	-	NC_000003.12:g.129560701C>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys1672Thr	rs1325433260	missense variant	-	NC_000003.12:g.129560702T>G	gnomAD
PLXND1	Q9Y4D7	p.Leu1678Met	rs200252007	missense variant	-	NC_000003.12:g.129560431G>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1679Ser	rs1349947927	missense variant	-	NC_000003.12:g.129560428G>A	gnomAD
PLXND1	Q9Y4D7	p.Pro1679Leu	COSM3587234	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129560427G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Thr1680Ala	rs142517704	missense variant	-	NC_000003.12:g.129560425T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1680Met	rs569800532	missense variant	-	NC_000003.12:g.129560424G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1681Gly	COSM4113359	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129560421T>C	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ala1684Val	rs199508041	missense variant	-	NC_000003.12:g.129560412G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1685Lys	rs758434379	missense variant	-	NC_000003.12:g.129560410C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro1686Ser	rs988003280	missense variant	-	NC_000003.12:g.129560407G>A	TOPMed
PLXND1	Q9Y4D7	p.Lys1687Arg	rs752712168	missense variant	-	NC_000003.12:g.129560403T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser1689Ala	rs1369644563	missense variant	-	NC_000003.12:g.129560398A>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His1690Tyr	COSM3846170	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129560395G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Arg1691Gln	rs201100072	missense variant	-	NC_000003.12:g.129560391C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1691Pro	rs201100072	missense variant	-	NC_000003.12:g.129560391C>G	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1691Trp	rs139940603	missense variant	-	NC_000003.12:g.129560392G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His1694Arg	rs761108683	missense variant	-	NC_000003.12:g.129560382T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1695Pro	rs569306898	missense variant	-	NC_000003.12:g.129560379C>G	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1695Cys	rs768056731	missense variant	-	NC_000003.12:g.129560380G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1695His	rs569306898	missense variant	-	NC_000003.12:g.129560379C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1695Ser	rs768056731	missense variant	-	NC_000003.12:g.129560380G>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys1696Arg	rs1363757320	missense variant	-	NC_000003.12:g.129560376T>C	gnomAD
PLXND1	Q9Y4D7	p.Pro1700Leu	rs1208037803	missense variant	-	NC_000003.12:g.129560364G>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1701Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129560362C>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Ile1702Met	rs557479575	missense variant	-	NC_000003.12:g.129560357G>C	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Tyr1703Ser	rs781156209	missense variant	-	NC_000003.12:g.129560355T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Tyr1703Cys	rs781156209	missense variant	-	NC_000003.12:g.129560355T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Leu1704Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129560353G>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Thr1705Pro	rs770697868	missense variant	-	NC_000003.12:g.129560350T>G	ExAC
PLXND1	Q9Y4D7	p.Arg1706Cys	rs746921963	missense variant	-	NC_000003.12:g.129560347G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gly1712Ser	rs1181675307	missense variant	-	NC_000003.12:g.129559783C>T	gnomAD
PLXND1	Q9Y4D7	p.Thr1713Met	COSM1418845	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129559779G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Gln1715His	rs1205245553	missense variant	-	NC_000003.12:g.129559772C>A	gnomAD
PLXND1	Q9Y4D7	p.Lys1723Glu	rs749517878	missense variant	-	NC_000003.12:g.129559750T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Leu1726Val	rs780392506	missense variant	-	NC_000003.12:g.129559741G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser1727Asn	rs756279893	missense variant	-	NC_000003.12:g.129559737C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1729Cys	rs767733014	missense variant	-	NC_000003.12:g.129559732G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1729Gly	rs767733014	missense variant	-	NC_000003.12:g.129559732G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1729His	rs552444549	missense variant	-	NC_000003.12:g.129559731C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1730Gly	rs1023214704	missense variant	-	NC_000003.12:g.129559728T>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1734HisPheSerTerUnkUnk	COSM5744789	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129559716G>-	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ala1736Ser	rs759179648	missense variant	-	NC_000003.12:g.129559711C>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1737Ile	rs1344215838	missense variant	-	NC_000003.12:g.129559708C>T	TOPMed
PLXND1	Q9Y4D7	p.Tyr1739Phe	rs1425141846	missense variant	-	NC_000003.12:g.129559701T>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Phe1741Leu	rs776264739	missense variant	-	NC_000003.12:g.129559694G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1742Asn	rs766102747	missense variant	-	NC_000003.12:g.129559693C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Gln1747Ter	NCI-TCGA novel	stop gained	-	NC_000003.12:g.129559678G>A	NCI-TCGA
PLXND1	Q9Y4D7	p.Gln1747Glu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129559678G>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala1748Ser	rs773093911	missense variant	-	NC_000003.12:g.129559675C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1749Lys	COSM6054238	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129559672C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Lys1750Asn	COSM4861592	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129559667C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Asp1755Asn	rs749429932	missense variant	-	NC_000003.12:g.129559654C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1756Leu	COSM3587230	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129559650G>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Asp1757Gly	rs1308315945	missense variant	-	NC_000003.12:g.129559647T>C	gnomAD
PLXND1	Q9Y4D7	p.Asp1757Asn	rs781629375	missense variant	-	NC_000003.12:g.129559648C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1770Gln	COSM4113355	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129558564C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Asn1774Ser	rs368778823	missense variant	-	NC_000003.12:g.129558552T>C	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asn1774Thr	rs368778823	missense variant	-	NC_000003.12:g.129558552T>G	ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1775Leu	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129558550T>G	NCI-TCGA
PLXND1	Q9Y4D7	p.Gln1780Arg	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129558534T>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Val1782Ile	rs574730592	missense variant	-	NC_000003.12:g.129558529C>T	1000Genomes,gnomAD
PLXND1	Q9Y4D7	p.Asp1786Val	rs763877206	missense variant	-	NC_000003.12:g.129558516T>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Asp1786Asn	rs751152442	missense variant	-	NC_000003.12:g.129558517C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Lys1787Gln	rs1373817428	missense variant	-	NC_000003.12:g.129558514T>G	gnomAD
PLXND1	Q9Y4D7	p.Thr1788Ile	rs1170917023	missense variant	-	NC_000003.12:g.129558510G>A	gnomAD
PLXND1	Q9Y4D7	p.Asp1789Val	rs1406760522	missense variant	-	NC_000003.12:g.129558507T>A	TOPMed
PLXND1	Q9Y4D7	p.His1790Tyr	rs752522859	missense variant	-	NC_000003.12:g.129558505G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asp1792Asn	rs765136044	missense variant	-	NC_000003.12:g.129558499C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1793Thr	COSM1221311	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129558496C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ile1798Val	rs758843755	missense variant	-	NC_000003.12:g.129558481T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1798Asn	rs934917359	missense variant	-	NC_000003.12:g.129558480A>T	TOPMed
PLXND1	Q9Y4D7	p.Ala1799Thr	rs766519168	missense variant	-	NC_000003.12:g.129558478C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1799Val	rs1321340868	missense variant	-	NC_000003.12:g.129558477G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala1801Val	rs772420249	missense variant	-	NC_000003.12:g.129558471G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Phe1802Leu	rs774760116	missense variant	-	NC_000003.12:g.129558469A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1805Thr	rs1332312348	missense variant	-	NC_000003.12:g.129558460C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Cys1806Phe	COSM4113353	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129558456C>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ile1808Val	rs1291177579	missense variant	-	NC_000003.12:g.129558451T>C	TOPMed
PLXND1	Q9Y4D7	p.Asp1810His	rs1180045564	missense variant	-	NC_000003.12:g.129558445C>G	TOPMed
PLXND1	Q9Y4D7	p.Lys1815Gln	rs1170700831	missense variant	-	NC_000003.12:g.129558430T>G	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn1820Ser	rs754736004	missense variant	-	NC_000003.12:g.129557210T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1825Ser	rs756103173	missense variant	-	NC_000003.12:g.129557196C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys1826Arg	rs750575164	missense variant	-	NC_000003.12:g.129557192T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1827Asp	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129557188C>G	NCI-TCGA
PLXND1	Q9Y4D7	p.Pro1829Arg	rs767597661	missense variant	-	NC_000003.12:g.129557183G>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Arg1832Gln	rs138406166	missense variant	-	NC_000003.12:g.129557174C>T	ESP,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1832Trp	rs751735983	missense variant	-	NC_000003.12:g.129557175G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys1833Glu	rs763362928	missense variant	-	NC_000003.12:g.129557172T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1834Thr	rs775805093	missense variant	-	NC_000003.12:g.129557168A>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Val1835Met	COSM1670556	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129557166C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Arg1837Gly	rs772619539	missense variant	-	NC_000003.12:g.129557160G>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1837Ser	rs772619539	missense variant	-	NC_000003.12:g.129557160G>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1837Cys	rs772619539	missense variant	-	NC_000003.12:g.129557160G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1837His	rs147446993	missense variant	-	NC_000003.12:g.129557159C>T	1000Genomes,ESP,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Tyr1838Ter	rs1159138789	stop gained	-	NC_000003.12:g.129557155G>C	TOPMed
PLXND1	Q9Y4D7	p.Tyr1838Cys	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129557156T>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Lys1840Glu	rs1455704758	missense variant	-	NC_000003.12:g.129557151T>C	TOPMed
PLXND1	Q9Y4D7	p.Lys1840Ter	COSM6096290	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129557151T>A	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Gln1841His	rs1202815298	missense variant	-	NC_000003.12:g.129557146C>A	gnomAD
PLXND1	Q9Y4D7	p.Thr1846Ala	rs1292085362	missense variant	-	NC_000003.12:g.129557133T>C	TOPMed
PLXND1	Q9Y4D7	p.Thr1846Met	rs141415531	missense variant	-	NC_000003.12:g.129557132G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1847Leu	rs768410974	missense variant	-	NC_000003.12:g.129557129G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1850Asp	rs200538768	missense variant	-	NC_000003.12:g.129557119C>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1850Lys	rs886392748	missense variant	-	NC_000003.12:g.129557121C>T	TOPMed
PLXND1	Q9Y4D7	p.His1856Tyr	rs1245924801	missense variant	-	NC_000003.12:g.129557103G>A	gnomAD
PLXND1	Q9Y4D7	p.Glu1859Lys	rs1266131248	missense variant	-	NC_000003.12:g.129557094C>T	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1860Ter	rs779156611	stop gained	-	NC_000003.12:g.129557091C>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1860Lys	rs779156611	missense variant	-	NC_000003.12:g.129557091C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Glu1860Ala	rs764422118	missense variant	-	NC_000003.12:g.129557090T>G	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ser1861Thr	rs148310936	missense variant	-	NC_000003.12:g.129557088A>T	ESP,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1861Leu	rs1279339390	missense variant	-	NC_000003.12:g.129557087G>A	gnomAD
PLXND1	Q9Y4D7	p.Lys1863Arg	rs1228073867	missense variant	-	NC_000003.12:g.129556690T>C	gnomAD
PLXND1	Q9Y4D7	p.Asn1871Ser	rs200118477	missense variant	-	NC_000003.12:g.129556666T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Val1872Met	rs1377815757	missense variant	-	NC_000003.12:g.129556664C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala1873Thr	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129556661C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Met1874Val	rs763650918	missense variant	-	NC_000003.12:g.129556658T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Met1874Thr	COSM4919715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129556657A>G	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Glu1876Gly	rs1411303642	missense variant	-	NC_000003.12:g.129556651T>C	gnomAD
PLXND1	Q9Y4D7	p.Ile1877Val	rs138395396	missense variant	-	NC_000003.12:g.129556649T>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1877Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129556647A>C	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala1881Thr	rs199820673	missense variant	-	NC_000003.12:g.129556637C>T	1000Genomes,ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ala1881Val	rs1162590136	missense variant	-	NC_000003.12:g.129556636G>A	gnomAD
PLXND1	Q9Y4D7	p.Lys1882Arg	rs1423103264	missense variant	-	NC_000003.12:g.129556633T>C	gnomAD
PLXND1	Q9Y4D7	p.Lys1882Asn	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129556632C>G	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg1883Lys	rs746872800	missense variant	-	NC_000003.12:g.129556630C>T	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Tyr1884Cys	rs1249852065	missense variant	-	NC_000003.12:g.129556627T>C	gnomAD
PLXND1	Q9Y4D7	p.Arg1885Gln	rs369952557	missense variant	-	NC_000003.12:g.129556624C>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1885Trp	rs1204952483	missense variant	-	NC_000003.12:g.129556625G>A	gnomAD
PLXND1	Q9Y4D7	p.Pro1886Ser	rs758404419	missense variant	-	NC_000003.12:g.129556622G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Pro1886Leu	rs375183136	missense variant	-	NC_000003.12:g.129556621G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Pro1886Gln	rs375183136	missense variant	-	NC_000003.12:g.129556621G>T	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1890Val	rs1379559176	missense variant	-	NC_000003.12:g.129556421G>A	gnomAD
PLXND1	Q9Y4D7	p.Ala1890Thr	COSM1418841	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129556422C>T	NCI-TCGA Cosmic
PLXND1	Q9Y4D7	p.Ala1891Val	rs140866535	missense variant	-	NC_000003.12:g.129556418G>A	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ala1891Thr	rs371220331	missense variant	-	NC_000003.12:g.129556419C>T	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn1895Ser	rs1463885620	missense variant	-	NC_000003.12:g.129556406T>C	gnomAD
PLXND1	Q9Y4D7	p.Thr1897Met	rs544615153	missense variant	-	NC_000003.12:g.129556400G>A	1000Genomes,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Thr1897ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000003.12:g.129556402G>-	NCI-TCGA
PLXND1	Q9Y4D7	p.Arg1899Gln	rs112866492	missense variant	-	NC_000003.12:g.129556394C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1899Pro	rs112866492	missense variant	-	NC_000003.12:g.129556394C>G	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1899Trp	rs768565508	missense variant	-	NC_000003.12:g.129556395G>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1900Trp	rs780210348	missense variant	-	NC_000003.12:g.129556392T>A	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Arg1900Gly	rs780210348	missense variant	-	NC_000003.12:g.129556392T>C	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.His1905Tyr	rs770033375	missense variant	-	NC_000003.12:g.129556377G>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Lys1906Arg	rs746272659	missense variant	-	NC_000003.12:g.129556373T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Phe1907Leu	rs897217198	missense variant	-	NC_000003.12:g.129556369A>C	TOPMed
PLXND1	Q9Y4D7	p.Val1910Met	rs1317773942	missense variant	-	NC_000003.12:g.129556362C>T	gnomAD
PLXND1	Q9Y4D7	p.Val1911Leu	rs1396658236	missense variant	-	NC_000003.12:g.129556359C>A	gnomAD
PLXND1	Q9Y4D7	p.Val1911Met	NCI-TCGA novel	missense variant	-	NC_000003.12:g.129556359C>T	NCI-TCGA
PLXND1	Q9Y4D7	p.Ala1912Val	rs1273908900	missense variant	-	NC_000003.12:g.129556355G>A	gnomAD
PLXND1	Q9Y4D7	p.Met1914Leu	rs1301317112	missense variant	-	NC_000003.12:g.129556350T>A	gnomAD
PLXND1	Q9Y4D7	p.Glu1915Ala	rs1434271566	missense variant	-	NC_000003.12:g.129556346T>G	gnomAD
PLXND1	Q9Y4D7	p.Asn1917Asp	rs1214374615	missense variant	-	NC_000003.12:g.129556341T>C	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Asn1917Ser	rs1448234673	missense variant	-	NC_000003.12:g.129556340T>C	gnomAD
PLXND1	Q9Y4D7	p.Asn1917Tyr	rs1214374615	missense variant	-	NC_000003.12:g.129556341T>A	TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1918Met	rs373152384	missense variant	-	NC_000003.12:g.129556336G>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ile1918Val	rs754511395	missense variant	-	NC_000003.12:g.129556338T>C	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Ile1918Phe	rs754511395	missense variant	-	NC_000003.12:g.129556338T>A	ExAC,gnomAD
PLXND1	Q9Y4D7	p.Tyr1919Ter	rs369498963	stop gained	-	NC_000003.12:g.129556333G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr1919Ser	rs1253724057	missense variant	-	NC_000003.12:g.129556334T>G	gnomAD
PLXND1	Q9Y4D7	p.Glu1920Lys	rs775551154	missense variant	-	NC_000003.12:g.129556332C>T	ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Tyr1922Cys	rs1386115714	missense variant	-	NC_000003.12:g.129556325T>C	TOPMed
PLXND1	Q9Y4D7	p.Ser1923Gly	rs149917682	missense variant	-	NC_000003.12:g.129556323T>C	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Ser1923Arg	rs149917682	missense variant	-	NC_000003.12:g.129556323T>G	ESP,ExAC,TOPMed,gnomAD
PLXND1	Q9Y4D7	p.Glu1924Lys	rs1345663752	missense variant	-	NC_000003.12:g.129556320C>T	gnomAD
PLXND1	Q9Y4D7	p.Ala1925Ser	rs1344376648	missense variant	-	NC_000003.12:g.129556317C>A	TOPMed
PLXND1	Q9Y4D7	p.Ala1925Val	rs375560036	missense variant	-	NC_000003.12:g.129556316G>A	ESP,ExAC,TOPMed
MMACHC	Q9Y4U1	p.Met1Ile	RCV000664762	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500335G>A	ClinVar
MMACHC	Q9Y4U1	p.Met1Val	RCV000666093	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500333A>G	ClinVar
MMACHC	Q9Y4U1	p.Met1Val	RCV000440436	missense variant	-	NC_000001.11:g.45500333A>G	ClinVar
MMACHC	Q9Y4U1	p.Met1Thr	RCV000672157	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500334T>C	ClinVar
MMACHC	Q9Y4U1	p.Met1Arg	RCV000673566	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500334T>G	ClinVar
MMACHC	Q9Y4U1	p.Glu2Val	rs543492649	missense variant	-	NC_000001.11:g.45500337A>T	1000Genomes,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Glu2Lys	rs1454919873	missense variant	-	NC_000001.11:g.45500336G>A	TOPMed
MMACHC	Q9Y4U1	p.Pro3Arg	rs201807738	missense variant	-	NC_000001.11:g.45500340C>G	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Lys4Thr	rs1204198077	missense variant	-	NC_000001.11:g.45500343A>C	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Val5Ala	rs780981680	missense variant	-	NC_000001.11:g.45500346T>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Val5Asp	rs780981680	missense variant	-	NC_000001.11:g.45500346T>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Val5Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.45500345G>A	NCI-TCGA
MMACHC	Q9Y4U1	p.Ala6Ser	rs747875672	missense variant	-	NC_000001.11:g.45500348G>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Glu7Lys	rs377405910	missense variant	-	NC_000001.11:g.45500351G>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gln10His	rs772838196	missense variant	-	NC_000001.11:g.45500362G>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Lys11Asn	rs770446383	missense variant	-	NC_000001.11:g.45500365G>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Lys11Met	rs748798542	missense variant	-	NC_000001.11:g.45500364A>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ile12Leu	rs773695165	missense variant	-	NC_000001.11:g.45500366A>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Glu13Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.45500369G>T	NCI-TCGA
MMACHC	Q9Y4U1	p.Glu13Lys	rs761257132	missense variant	-	NC_000001.11:g.45500369G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Glu13Gln	rs761257132	missense variant	-	NC_000001.11:g.45500369G>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Glu13Ala	rs1010232462	missense variant	-	NC_000001.11:g.45500370A>C	TOPMed
MMACHC	Q9Y4U1	p.Asp14Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.45500373A>G	NCI-TCGA
MMACHC	Q9Y4U1	p.Asp14Asn	rs563710045	missense variant	-	NC_000001.11:g.45500372G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Thr15Ala	rs1352943462	missense variant	-	NC_000001.11:g.45500375A>G	TOPMed
MMACHC	Q9Y4U1	p.Thr15Met	rs765601770	missense variant	-	NC_000001.11:g.45500376C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Leu16Val	rs1197773707	missense variant	-	NC_000001.11:g.45500378C>G	gnomAD
MMACHC	Q9Y4U1	p.Leu16Pro	rs1299984717	missense variant	-	NC_000001.11:g.45500379T>C	gnomAD
MMACHC	Q9Y4U1	p.Cys17Arg	rs766500038	missense variant	-	NC_000001.11:g.45500381T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Cys17Tyr	rs751539831	missense variant	-	NC_000001.11:g.45500382G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro18Ser	rs1323856934	missense variant	-	NC_000001.11:g.45500384C>T	gnomAD
MMACHC	Q9Y4U1	p.Pro18Leu	rs371004372	missense variant	-	NC_000001.11:g.45500385C>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro18His	rs371004372	missense variant	-	NC_000001.11:g.45500385C>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Phe19Ser	rs1273105824	missense variant	-	NC_000001.11:g.45500388T>C	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gly20Asp	rs375909359	missense variant	-	NC_000001.11:g.45500391G>A	ESP,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Glu22Val	rs781106513	missense variant	-	NC_000001.11:g.45500397A>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Glu22Lys	rs1478779847	missense variant	-	NC_000001.11:g.45500396G>A	gnomAD
MMACHC	Q9Y4U1	p.Val23Phe	rs201898615	missense variant	-	NC_000001.11:g.45500399G>T	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Val23Phe	RCV000308210	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45500399G>T	ClinVar
MMACHC	Q9Y4U1	p.Tyr24Ter	rs755881820	stop gained	-	NC_000001.11:g.45500404C>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Tyr24Ter	RCV000669100	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500404C>A	ClinVar
MMACHC	Q9Y4U1	p.Pro25Thr	rs1325442638	missense variant	-	NC_000001.11:g.45500405C>A	TOPMed
MMACHC	Q9Y4U1	p.Pro25His	rs777332324	missense variant	-	NC_000001.11:g.45500406C>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Phe26Leu	rs770431439	missense variant	-	NC_000001.11:g.45500410C>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Phe26Val	rs1318571220	missense variant	-	NC_000001.11:g.45500408T>G	TOPMed
MMACHC	Q9Y4U1	p.Gln27Arg	RCV000667730	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45500412A>G	ClinVar
MMACHC	Q9Y4U1	p.Gln27Arg	rs546099787	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45500412A>G	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Gln27Arg	VAR_024770	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45500412A>G	UniProt
MMACHC	Q9Y4U1	p.Gln27Arg	rs546099787	missense variant	-	NC_000001.11:g.45500412A>G	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Val28Leu	rs371937044	missense variant	-	NC_000001.11:g.45507356G>T	gnomAD
MMACHC	Q9Y4U1	p.Val28Met	rs371937044	missense variant	-	NC_000001.11:g.45507356G>A	gnomAD
MMACHC	Q9Y4U1	p.AlaTrpTyrAsnGlu29AlaTerUnk	rs1289618918	stop gained	-	NC_000001.11:g.45507364_45507371del	TOPMed
MMACHC	Q9Y4U1	p.Trp30Ter	rs771673343	stop gained	-	NC_000001.11:g.45507364G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Trp30Arg	rs745419717	missense variant	-	NC_000001.11:g.45507362T>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Trp30Ter	RCV000671638	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507364G>A	ClinVar
MMACHC	Q9Y4U1	p.Tyr31His	rs1400192154	missense variant	-	NC_000001.11:g.45507365T>C	gnomAD
MMACHC	Q9Y4U1	p.Glu33Gly	rs367990231	missense variant	-	NC_000001.11:g.45507372A>G	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Leu34Phe	rs758974575	missense variant	-	NC_000001.11:g.45507374C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro36Leu	rs770139367	missense variant	-	NC_000001.11:g.45507381C>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro36Arg	rs770139367	missense variant	-	NC_000001.11:g.45507381C>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro37Ser	rs1353976831	missense variant	-	NC_000001.11:g.45507383C>T	gnomAD
MMACHC	Q9Y4U1	p.Pro42Leu	rs763226016	missense variant	-	NC_000001.11:g.45507399C>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro44Arg	rs774414508	missense variant	-	NC_000001.11:g.45507405C>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gly45Arg	rs1312343436	missense variant	-	NC_000001.11:g.45507407G>C	gnomAD
MMACHC	Q9Y4U1	p.Thr47Asn	rs200920274	missense variant	-	NC_000001.11:g.45507414C>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Thr47Ile	rs200920274	missense variant	-	NC_000001.11:g.45507414C>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ala49Val	rs1182723536	missense variant	-	NC_000001.11:g.45507420C>T	gnomAD
MMACHC	Q9Y4U1	p.Ala49Thr	rs775502093	missense variant	-	NC_000001.11:g.45507419G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ala49Ser	rs775502093	missense variant	-	NC_000001.11:g.45507419G>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Leu51Met	NCI-TCGA novel	missense variant	-	NC_000001.11:g.45507425C>A	NCI-TCGA
MMACHC	Q9Y4U1	p.Val52Ile	rs1468551783	missense variant	-	NC_000001.11:g.45507428G>A	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Leu53Val	rs201507059	missense variant	-	NC_000001.11:g.45507431C>G	1000Genomes,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Leu53Pro	rs756980496	missense variant	-	NC_000001.11:g.45507432T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Leu53Phe	rs201507059	missense variant	-	NC_000001.11:g.45507431C>T	1000Genomes,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Leu53Pro	RCV000585794	missense variant	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	NC_000001.11:g.45507432T>C	ClinVar
MMACHC	Q9Y4U1	p.Ser54Asn	rs1173221159	missense variant	-	NC_000001.11:g.45507435G>A	gnomAD
MMACHC	Q9Y4U1	p.Ser54Arg	rs750127773	missense variant	-	NC_000001.11:g.45507436C>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Thr55Met	rs375330130	missense variant	-	NC_000001.11:g.45507438C>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro56Ser	COSM1343052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.45507440C>T	NCI-TCGA Cosmic
MMACHC	Q9Y4U1	p.Met58Thr	rs756713628	missense variant	-	NC_000001.11:g.45507447T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Phe59Leu	rs778133848	missense variant	-	NC_000001.11:g.45507449T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Asp60His	rs6662272	missense variant	-	NC_000001.11:g.45507452G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Asp60His	RCV000362925	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45507452G>C	ClinVar
MMACHC	Q9Y4U1	p.Arg61Trp	RCV000186023	missense variant	-	NC_000001.11:g.45507455C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg61Trp	RCV000552129	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507455C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg61Gln	RCV000641153	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507456G>A	ClinVar
MMACHC	Q9Y4U1	p.Arg61Trp	rs200483477	missense variant	-	NC_000001.11:g.45507455C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg61Pro	rs201777449	missense variant	-	NC_000001.11:g.45507456G>C	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg61Gln	rs201777449	missense variant	-	NC_000001.11:g.45507456G>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ser69Asn	rs568459545	missense variant	-	NC_000001.11:g.45507480G>A	1000Genomes
MMACHC	Q9Y4U1	p.Arg73Ter	RCV000186024	nonsense	-	NC_000001.11:g.45507491C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg73Ter	RCV000671572	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507491C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg73Ter	rs796051995	stop gained	-	NC_000001.11:g.45507491C>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Met74Ile	rs772225967	missense variant	-	NC_000001.11:g.45507496G>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Met74Ile	rs772225967	missense variant	-	NC_000001.11:g.45507496G>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Met74Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.45507496G>A	NCI-TCGA
MMACHC	Q9Y4U1	p.Leu75Pro	rs1193157698	missense variant	-	NC_000001.11:g.45507498T>C	gnomAD
MMACHC	Q9Y4U1	p.Thr76Ser	rs1451573070	missense variant	-	NC_000001.11:g.45507501C>G	gnomAD
MMACHC	Q9Y4U1	p.Asp77Gly	rs1217366809	missense variant	-	NC_000001.11:g.45507504A>G	TOPMed
MMACHC	Q9Y4U1	p.Asp77Gly	RCV000781545	missense variant	-	NC_000001.11:g.45507504A>G	ClinVar
MMACHC	Q9Y4U1	p.Pro78Thr	rs952771687	missense variant	-	NC_000001.11:g.45507506C>A	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro78Ala	rs952771687	missense variant	-	NC_000001.11:g.45507506C>G	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro78Gln	NCI-TCGA novel	missense variant	-	NC_000001.11:g.45507507C>A	NCI-TCGA
MMACHC	Q9Y4U1	p.Val79Ala	rs1438340899	missense variant	-	NC_000001.11:g.45507510T>C	TOPMed
MMACHC	Q9Y4U1	p.Gln81Ter	RCV000394444	nonsense	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45507515C>T	ClinVar
MMACHC	Q9Y4U1	p.Gln81Glu	rs373246922	missense variant	-	NC_000001.11:g.45507515C>G	ESP,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Gln81Ter	rs373246922	stop gained	-	NC_000001.11:g.45507515C>T	ESP,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Cys82Tyr	rs1396266726	missense variant	-	NC_000001.11:g.45507519G>A	gnomAD
MMACHC	Q9Y4U1	p.Leu87Val	rs776402014	missense variant	-	NC_000001.11:g.45507533C>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg89Gly	rs200109668	missense variant	-	NC_000001.11:g.45507539C>G	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg89His	rs376520909	missense variant	-	NC_000001.11:g.45507540G>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg89Ser	rs200109668	missense variant	-	NC_000001.11:g.45507539C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg89Cys	rs200109668	missense variant	-	NC_000001.11:g.45507539C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg91Ter	RCV000477768	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507544dup	ClinVar
MMACHC	Q9Y4U1	p.Arg91Ter	RCV000507720	frameshift	-	NC_000001.11:g.45507545dup	ClinVar
MMACHC	Q9Y4U1	p.Arg91Ter	RCV000081737	frameshift	-	NC_000001.11:g.45507545dup	ClinVar
MMACHC	Q9Y4U1	p.Arg91Ter	RCV000585799	frameshift	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC	NC_000001.11:g.45507545dup	ClinVar
MMACHC	Q9Y4U1	p.Arg91Ter	RCV000308836	frameshift	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45507545dup	ClinVar
MMACHC	Q9Y4U1	p.Arg91Ter	RCV000001486	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507545dup	ClinVar
MMACHC	Q9Y4U1	p.Glu92Asp	rs556977618	missense variant	-	NC_000001.11:g.45507550G>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Glu92Asp	RCV000148298	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507550G>T	ClinVar
MMACHC	Q9Y4U1	p.Glu92Ter	RCV000672078	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45507545_45507546AG[1]	ClinVar
MMACHC	Q9Y4U1	p.Pro95Ser	rs1483123280	missense variant	-	NC_000001.11:g.45508218C>T	gnomAD
MMACHC	Q9Y4U1	p.Glu96Ter	RCV000674067	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508220dup	ClinVar
MMACHC	Q9Y4U1	p.Gln98Ter	rs759188647	stop gained	-	NC_000001.11:g.45508227C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Gln98Ter	RCV000591994	nonsense	-	NC_000001.11:g.45508227C>T	ClinVar
MMACHC	Q9Y4U1	p.Ile99Thr	rs370229341	missense variant	-	NC_000001.11:g.45508231T>C	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ile102Thr	rs1313219207	missense variant	-	NC_000001.11:g.45508240T>C	gnomAD
MMACHC	Q9Y4U1	p.Ile102Val	rs752195629	missense variant	-	NC_000001.11:g.45508239A>G	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Asp104Asn	rs757711772	missense variant	-	NC_000001.11:g.45508245G>A	ExAC
MMACHC	Q9Y4U1	p.Asp104Val	rs1553162829	missense variant	-	NC_000001.11:g.45508246A>T	-
MMACHC	Q9Y4U1	p.Asp104Ter	RCV000669122	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508245_45508248del	ClinVar
MMACHC	Q9Y4U1	p.Asp104Val	RCV000519990	missense variant	-	NC_000001.11:g.45508246A>T	ClinVar
MMACHC	Q9Y4U1	p.Tyr105Ter	rs528744719	stop gained	-	NC_000001.11:g.45508250C>G	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Tyr105Ter	RCV000669305	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508250C>G	ClinVar
MMACHC	Q9Y4U1	p.Glu106Lys	RCV000552788	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508251G>A	ClinVar
MMACHC	Q9Y4U1	p.Glu106Lys	rs201617713	missense variant	-	NC_000001.11:g.45508251G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Glu106Lys	RCV000415822	missense variant	-	NC_000001.11:g.45508251G>A	ClinVar
MMACHC	Q9Y4U1	p.Val107Met	rs758730415	missense variant	-	NC_000001.11:g.45508254G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro109Leu	rs747214324	missense variant	-	NC_000001.11:g.45508261C>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro109Leu	RCV000323956	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508261C>T	ClinVar
MMACHC	Q9Y4U1	p.Asn110Ter	RCV000531346	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508263_45508266del	ClinVar
MMACHC	Q9Y4U1	p.Asn110Ter	RCV000186035	frameshift	-	NC_000001.11:g.45508263_45508266del	ClinVar
MMACHC	Q9Y4U1	p.Asn110Ser	rs781133955	missense variant	-	NC_000001.11:g.45508264A>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Asn110His	rs537151830	missense variant	-	NC_000001.11:g.45508263A>C	1000Genomes,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Asn110Thr	rs781133955	missense variant	-	NC_000001.11:g.45508264A>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg111Gln	rs200300254	missense variant	-	NC_000001.11:g.45508267G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg111Ter	rs121918242	stop gained	-	NC_000001.11:g.45508266C>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg111Ter	RCV000001489	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508266C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg111Ter	RCV000186026	nonsense	-	NC_000001.11:g.45508266C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg112Cys	rs187869948	missense variant	-	NC_000001.11:g.45508269C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg112His	rs762885252	missense variant	-	NC_000001.11:g.45508270G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg112Cys	RCV000359909	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508269C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg112Leu	rs762885252	missense variant	-	NC_000001.11:g.45508270G>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro113Leu	rs759127801	missense variant	-	NC_000001.11:g.45508273C>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Lys114Arg	rs1361592186	missense variant	-	NC_000001.11:g.45508276A>G	gnomAD
MMACHC	Q9Y4U1	p.Ile115Val	rs933920882	missense variant	-	NC_000001.11:g.45508278A>G	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ile115Phe	rs933920882	missense variant	-	NC_000001.11:g.45508278A>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Leu116Pro	rs121918240	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508282T>C	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Leu116Pro	VAR_024771	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508282T>C	UniProt
MMACHC	Q9Y4U1	p.Leu116Pro	rs121918240	missense variant	-	NC_000001.11:g.45508282T>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Leu116Pro	RCV000001487	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508282T>C	ClinVar
MMACHC	Q9Y4U1	p.Ala117Val	rs368634899	missense variant	-	NC_000001.11:g.45508285C>T	ESP,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ala117Pro	rs752205161	missense variant	-	NC_000001.11:g.45508284G>C	ExAC,TOPMed
MMACHC	Q9Y4U1	p.Ala117Asp	rs368634899	missense variant	-	NC_000001.11:g.45508285C>A	ESP,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ala117Pro	RCV000667746	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508284G>C	ClinVar
MMACHC	Q9Y4U1	p.Gln118Ter	RCV000641152	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508287del	ClinVar
MMACHC	Q9Y4U1	p.Gln118Ter	RCV000506122	frameshift	-	NC_000001.11:g.45508287del	ClinVar
MMACHC	Q9Y4U1	p.Gln118Ter	RCV000627427	frameshift	-	NC_000001.11:g.45508287del	ClinVar
MMACHC	Q9Y4U1	p.Thr119Pro	rs778671895	missense variant	-	NC_000001.11:g.45508290A>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Thr119Ala	rs778671895	missense variant	-	NC_000001.11:g.45508290A>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Thr119Lys	rs1006520706	missense variant	-	NC_000001.11:g.45508291C>A	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Thr119Arg	rs1006520706	missense variant	-	NC_000001.11:g.45508291C>G	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ala120Thr	rs1033086300	missense variant	-	NC_000001.11:g.45508293G>A	TOPMed
MMACHC	Q9Y4U1	p.Ala120Ser	rs1033086300	missense variant	-	NC_000001.11:g.45508293G>T	TOPMed
MMACHC	Q9Y4U1	p.Ala121Thr	rs1306325448	missense variant	-	NC_000001.11:g.45508296G>A	gnomAD
MMACHC	Q9Y4U1	p.His122Ter	RCV000782135	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508299dup	ClinVar
MMACHC	Q9Y4U1	p.His122Leu	rs1403450697	missense variant	-	NC_000001.11:g.45508300A>T	TOPMed
MMACHC	Q9Y4U1	p.His122Asn	RCV000673415	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508299C>A	ClinVar
MMACHC	Q9Y4U1	p.His122Asn	rs372918203	missense variant	-	NC_000001.11:g.45508299C>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.His122Arg	VAR_024772	Missense	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC) [MIM:277400]	-	UniProt
MMACHC	Q9Y4U1	p.Val123Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.45508303T>G	NCI-TCGA
MMACHC	Q9Y4U1	p.Ala124Val	rs375891664	missense variant	-	NC_000001.11:g.45508306C>T	ESP,TOPMed
MMACHC	Q9Y4U1	p.Gly125Ala	rs751883359	missense variant	-	NC_000001.11:g.45508309G>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Tyr129His	rs755220262	missense variant	-	NC_000001.11:g.45508320T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Tyr129Ter	RCV000674328	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508319del	ClinVar
MMACHC	Q9Y4U1	p.Tyr130Cys	RCV000504286	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508324A>G	ClinVar
MMACHC	Q9Y4U1	p.Tyr130Cys	rs200094982	missense variant	-	NC_000001.11:g.45508324A>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Tyr130His	rs372670428	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508323T>C	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Tyr130His	VAR_024773	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508323T>C	UniProt
MMACHC	Q9Y4U1	p.Tyr130His	rs372670428	missense variant	-	NC_000001.11:g.45508323T>C	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gln131Ter	RCV000664503	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508326C>T	ClinVar
MMACHC	Q9Y4U1	p.Gln131Ter	rs1553162857	stop gained	-	NC_000001.11:g.45508326C>T	-
MMACHC	Q9Y4U1	p.Arg132Gln	rs369335868	missense variant	-	NC_000001.11:g.45508330G>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg132Ter	rs121918241	stop gained	-	NC_000001.11:g.45508329C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg132Pro	rs369335868	missense variant	-	NC_000001.11:g.45508330G>C	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg132Ter	RCV000721968	nonsense	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	NC_000001.11:g.45508329C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg132Ter	RCV000001488	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508329C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg132Ter	RCV000153508	nonsense	-	NC_000001.11:g.45508329C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg132Gln	RCV000434552	missense variant	-	NC_000001.11:g.45508330G>A	ClinVar
MMACHC	Q9Y4U1	p.Gln133Ter	RCV000669321	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508333_45508334del	ClinVar
MMACHC	Q9Y4U1	p.Val135Leu	RCV000315733	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508338G>T	ClinVar
MMACHC	Q9Y4U1	p.Val135Leu	RCV000668614	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508338G>T	ClinVar
MMACHC	Q9Y4U1	p.Val135Leu	rs886046368	missense variant	-	NC_000001.11:g.45508338G>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Glu136Lys	rs374086070	missense variant	-	NC_000001.11:g.45508341G>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ala137Thr	rs985888174	missense variant	-	NC_000001.11:g.45508344G>A	TOPMed
MMACHC	Q9Y4U1	p.Asp138Gly	rs1296354064	missense variant	-	NC_000001.11:g.45508348A>G	gnomAD
MMACHC	Q9Y4U1	p.Asp138Asn	rs1434024774	missense variant	-	NC_000001.11:g.45508347G>A	TOPMed
MMACHC	Q9Y4U1	p.Trp140Ter	RCV000190393	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508355G>A	ClinVar
MMACHC	Q9Y4U1	p.Trp140Ter	rs796051996	stop gained	-	NC_000001.11:g.45508355G>A	gnomAD
MMACHC	Q9Y4U1	p.Gly141Arg	rs1302721747	missense variant	-	NC_000001.11:g.45508356G>A	TOPMed
MMACHC	Q9Y4U1	p.Gly141Glu	rs760277452	missense variant	-	NC_000001.11:g.45508357G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Asn142Ser	rs377684747	missense variant	-	NC_000001.11:g.45508360A>G	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Asn142Lys	rs189608856	missense variant	-	NC_000001.11:g.45508361C>A	1000Genomes
MMACHC	Q9Y4U1	p.Gln143Ter	rs1553162868	stop gained	-	NC_000001.11:g.45508362C>T	-
MMACHC	Q9Y4U1	p.Gln143Ter	RCV000674933	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508362C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg144His	rs768230660	missense variant	-	NC_000001.11:g.45508797G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg144Cys	rs1390488134	missense variant	-	NC_000001.11:g.45508796C>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ile145Thr	rs759921519	missense variant	-	NC_000001.11:g.45508800T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ile145Leu	rs74365027	missense variant	-	NC_000001.11:g.45508799A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ile145Leu	rs74365027	missense variant	-	NC_000001.11:g.45508799A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ile145Val	rs74365027	missense variant	-	NC_000001.11:g.45508799A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ile145Leu	RCV000374944	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508799A>T	ClinVar
MMACHC	Q9Y4U1	p.Ser146Pro	rs1164100187	missense variant	-	NC_000001.11:g.45508802T>C	gnomAD
MMACHC	Q9Y4U1	p.Gly147Asp	RCV000186029	missense variant	-	NC_000001.11:g.45508806G>A	ClinVar
MMACHC	Q9Y4U1	p.Gly147Ala	rs140522266	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508806G>C	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Gly147Ala	VAR_024774	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508806G>C	UniProt
MMACHC	Q9Y4U1	p.Gly147Ala	rs140522266	missense variant	-	NC_000001.11:g.45508806G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gly147Ala	RCV000576585	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508806G>C	ClinVar
MMACHC	Q9Y4U1	p.Gly147Asp	rs140522266	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508806G>A	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Gly147Asp	VAR_024775	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508806G>A	UniProt
MMACHC	Q9Y4U1	p.Gly147Asp	rs140522266	missense variant	-	NC_000001.11:g.45508806G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Cys149Ter	RCV000186034	frameshift	-	NC_000001.11:g.45508807_45508808TG[2]	ClinVar
MMACHC	Q9Y4U1	p.Cys149Tyr	rs1161394470	missense variant	-	NC_000001.11:g.45508812G>A	gnomAD
MMACHC	Q9Y4U1	p.Cys149Tyr	RCV000641154	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508812G>A	ClinVar
MMACHC	Q9Y4U1	p.Ile150Thr	rs756413692	missense variant	-	NC_000001.11:g.45508815T>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.His151Arg	rs764409631	missense variant	-	NC_000001.11:g.45508818A>G	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro152Leu	rs754032179	missense variant	-	NC_000001.11:g.45508821C>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro152His	rs754032179	missense variant	-	NC_000001.11:g.45508821C>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg153Gln	rs200276195	missense variant	-	NC_000001.11:g.45508824G>A	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg153Ter	rs757325789	stop gained	-	NC_000001.11:g.45508823C>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg153Gly	rs757325789	missense variant	-	NC_000001.11:g.45508823C>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg153Ter	RCV000665310	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508823C>T	ClinVar
MMACHC	Q9Y4U1	p.Phe154Ser	rs758208320	missense variant	-	NC_000001.11:g.45508827T>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Phe154Tyr	rs758208320	missense variant	-	NC_000001.11:g.45508827T>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gly155Glu	rs606231425	missense variant	-	NC_000001.11:g.45508830G>A	-
MMACHC	Q9Y4U1	p.Gly155Glu	RCV000148300	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508830G>A	ClinVar
MMACHC	Q9Y4U1	p.Gly156Asp	RCV000670372	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508833G>A	ClinVar
MMACHC	Q9Y4U1	p.Gly156Asp	rs1553162910	missense variant	-	NC_000001.11:g.45508833G>A	-
MMACHC	Q9Y4U1	p.Gly156Asp	rs1553162910	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508833G>A	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Gly156Asp	VAR_024776	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508833G>A	UniProt
MMACHC	Q9Y4U1	p.Gly156Ser	rs768353633	missense variant	-	NC_000001.11:g.45508832G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Trp157Ter	rs1315916426	stop gained	-	NC_000001.11:g.45508836G>A	gnomAD
MMACHC	Q9Y4U1	p.Trp157Ter	rs1002571805	stop gained	-	NC_000001.11:g.45508837G>A	-
MMACHC	Q9Y4U1	p.Trp157Ser	rs1315916426	missense variant	-	NC_000001.11:g.45508836G>C	gnomAD
MMACHC	Q9Y4U1	p.Trp157Ter	RCV000669370	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508837G>A	ClinVar
MMACHC	Q9Y4U1	p.Phe158Leu	rs201312386	missense variant	-	NC_000001.11:g.45508838T>C	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Phe158Leu	RCV000664859	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508838T>C	ClinVar
MMACHC	Q9Y4U1	p.Phe158Ser	rs1426887022	missense variant	-	NC_000001.11:g.45508839T>C	TOPMed
MMACHC	Q9Y4U1	p.Ile160Val	rs769378589	missense variant	-	NC_000001.11:g.45508844A>G	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Arg161Gln	RCV000721969	missense variant	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	NC_000001.11:g.45508848G>A	ClinVar
MMACHC	Q9Y4U1	p.Arg161Gln	RCV000081740	missense variant	-	NC_000001.11:g.45508848G>A	ClinVar
MMACHC	Q9Y4U1	p.Arg161Ter	rs370596113	stop gained	-	NC_000001.11:g.45508847C>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg161Gly	rs370596113	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508847C>G	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Arg161Gly	VAR_024778	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508847C>G	UniProt
MMACHC	Q9Y4U1	p.Arg161Gly	rs370596113	missense variant	-	NC_000001.11:g.45508847C>G	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg161Gln	RCV000624532	missense variant	Inborn genetic diseases	NC_000001.11:g.45508848G>A	ClinVar
MMACHC	Q9Y4U1	p.Arg161Gln	rs121918243	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508848G>A	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Arg161Gln	VAR_024779	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508848G>A	UniProt
MMACHC	Q9Y4U1	p.Arg161Gln	rs121918243	missense variant	-	NC_000001.11:g.45508848G>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg161Gln	RCV000001490	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508848G>A	ClinVar
MMACHC	Q9Y4U1	p.Arg161Ter	RCV000340205	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508847C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg161Ter	RCV000081739	nonsense	-	NC_000001.11:g.45508847C>T	ClinVar
MMACHC	Q9Y4U1	p.Gly162Trp	rs1178984269	missense variant	-	NC_000001.11:g.45508850G>T	gnomAD
MMACHC	Q9Y4U1	p.Val164Leu	rs1417321919	missense variant	-	NC_000001.11:g.45508856G>C	TOPMed
MMACHC	Q9Y4U1	p.Pro167Ter	RCV000668801	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508866del	ClinVar
MMACHC	Q9Y4U1	p.Pro167Ter	RCV000672551	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508863dup	ClinVar
MMACHC	Q9Y4U1	p.Pro167Leu	rs942114005	missense variant	-	NC_000001.11:g.45508866C>T	TOPMed
MMACHC	Q9Y4U1	p.Gly168Glu	rs1324791452	missense variant	-	NC_000001.11:g.45508869G>A	TOPMed
MMACHC	Q9Y4U1	p.Gly168Arg	rs764448435	missense variant	-	NC_000001.11:g.45508868G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ile169Val	rs1157052325	missense variant	-	NC_000001.11:g.45508871A>G	gnomAD
MMACHC	Q9Y4U1	p.Glu170Asp	rs1230233151	missense variant	-	NC_000001.11:g.45508876G>C	gnomAD
MMACHC	Q9Y4U1	p.Glu170Ter	RCV000671954	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508873_45508885del	ClinVar
MMACHC	Q9Y4U1	p.Val171Leu	rs1284743326	missense variant	-	NC_000001.11:g.45508877G>T	TOPMed
MMACHC	Q9Y4U1	p.Asp173Asn	rs754140669	missense variant	-	NC_000001.11:g.45508883G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro175Leu	rs765367834	missense variant	-	NC_000001.11:g.45508890C>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro175Ser	rs761889099	missense variant	-	NC_000001.11:g.45508889C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Arg177Gly	rs1334625392	missense variant	-	NC_000001.11:g.45508895A>G	TOPMed
MMACHC	Q9Y4U1	p.Lys178Asn	rs1279586445	missense variant	-	NC_000001.11:g.45508900A>C	gnomAD
MMACHC	Q9Y4U1	p.Pro179Arg	rs368225422	missense variant	-	NC_000001.11:g.45508902C>G	ESP
MMACHC	Q9Y4U1	p.His180Arg	rs1392678827	missense variant	-	NC_000001.11:g.45508905A>G	TOPMed
MMACHC	Q9Y4U1	p.Asp181Tyr	rs758426429	missense variant	-	NC_000001.11:g.45508907G>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Asp181Asn	rs758426429	missense variant	-	NC_000001.11:g.45508907G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Asp181Ter	RCV000671439	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508907_45508914del	ClinVar
MMACHC	Q9Y4U1	p.Cys182Phe	rs372010149	missense variant	-	NC_000001.11:g.45508911G>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Cys182Ser	rs372010149	missense variant	-	NC_000001.11:g.45508911G>C	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Cys182Tyr	rs372010149	missense variant	-	NC_000001.11:g.45508911G>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Cys182Tyr	RCV000331253	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45508911G>A	ClinVar
MMACHC	Q9Y4U1	p.Cys182Arg	rs955468279	missense variant	-	NC_000001.11:g.45508910T>C	-
MMACHC	Q9Y4U1	p.Cys182Arg	RCV000666281	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508910T>C	ClinVar
MMACHC	Q9Y4U1	p.Val183Ala	rs780926592	missense variant	-	NC_000001.11:g.45508914T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Val183Ter	RCV000790832	frameshift	-	NC_000001.11:g.45508911_45508912GT[1]	ClinVar
MMACHC	Q9Y4U1	p.Val183Ter	RCV000266579	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508911_45508912GT[1]	ClinVar
MMACHC	Q9Y4U1	p.Val183ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000001.11:g.45508910_45508911TG>-	NCI-TCGA
MMACHC	Q9Y4U1	p.Pro184Arg	rs1439438926	missense variant	-	NC_000001.11:g.45508917C>G	gnomAD
MMACHC	Q9Y4U1	p.Pro184Ser	rs747860045	missense variant	-	NC_000001.11:g.45508916C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro184Ala	rs747860045	missense variant	-	NC_000001.11:g.45508916C>G	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Thr185Ala	rs1205106855	missense variant	-	NC_000001.11:g.45508919A>G	gnomAD
MMACHC	Q9Y4U1	p.Thr185Lys	rs201410976	missense variant	-	NC_000001.11:g.45508920C>A	1000Genomes,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Thr185Arg	rs201410976	missense variant	-	NC_000001.11:g.45508920C>G	1000Genomes,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Thr185Pro	rs1205106855	missense variant	-	NC_000001.11:g.45508919A>C	gnomAD
MMACHC	Q9Y4U1	p.Arg186Lys	rs777345540	missense variant	-	NC_000001.11:g.45508923G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ala187Thr	rs1470069919	missense variant	-	NC_000001.11:g.45508925G>A	TOPMed
MMACHC	Q9Y4U1	p.Ala187Asp	NCI-TCGA novel	missense variant	-	NC_000001.11:g.45508926C>A	NCI-TCGA
MMACHC	Q9Y4U1	p.Asp188Asn	rs748747319	missense variant	-	NC_000001.11:g.45508928G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Arg189His	rs761221416	missense variant	-	NC_000001.11:g.45508932G>A	ExAC,TOPMed
MMACHC	Q9Y4U1	p.Arg189Cys	rs200895671	missense variant	-	NC_000001.11:g.45508931C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg189Ter	RCV000668639	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508931del	ClinVar
MMACHC	Q9Y4U1	p.Arg189Ser	RCV000674997	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508931C>A	ClinVar
MMACHC	Q9Y4U1	p.Arg189Ser	rs200895671	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508931C>A	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Arg189Ser	VAR_024780	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508931C>A	UniProt
MMACHC	Q9Y4U1	p.Arg189Ser	rs200895671	missense variant	-	NC_000001.11:g.45508931C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg189His	RCV000477781	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508932G>A	ClinVar
MMACHC	Q9Y4U1	p.Ile190Ser	rs1173363224	missense variant	-	NC_000001.11:g.45508935T>G	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ile190Ter	RCV000672749	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508933dup	ClinVar
MMACHC	Q9Y4U1	p.Ala191Thr	rs777075012	missense variant	-	NC_000001.11:g.45508937G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ala191Val	rs375442063	missense variant	-	NC_000001.11:g.45508938C>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ala191Gly	rs375442063	missense variant	-	NC_000001.11:g.45508938C>G	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ala191Ser	rs777075012	missense variant	-	NC_000001.11:g.45508937G>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Leu192Ter	RCV000672361	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508940del	ClinVar
MMACHC	Q9Y4U1	p.Leu193Phe	rs1371224805	missense variant	-	NC_000001.11:g.45508943C>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Leu193Pro	rs1233135084	missense variant	-	NC_000001.11:g.45508944T>C	gnomAD
MMACHC	Q9Y4U1	p.Glu194Lys	rs751530925	missense variant	-	NC_000001.11:g.45508946G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gly195Ala	rs754862915	missense variant	-	NC_000001.11:g.45508950G>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Asn197Ser	rs1272181770	missense variant	-	NC_000001.11:g.45508956A>G	gnomAD
MMACHC	Q9Y4U1	p.Asn197Ile	COSM910186	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.45508956A>T	NCI-TCGA Cosmic
MMACHC	Q9Y4U1	p.Phe198Ser	rs1453322509	missense variant	-	NC_000001.11:g.45508959T>C	TOPMed
MMACHC	Q9Y4U1	p.Phe198Leu	rs1436017749	missense variant	-	NC_000001.11:g.45508958T>C	gnomAD
MMACHC	Q9Y4U1	p.His199Tyr	rs1053868671	missense variant	-	NC_000001.11:g.45508961C>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Trp200Ter	rs1399932916	stop gained	-	NC_000001.11:g.45508965G>A	TOPMed
MMACHC	Q9Y4U1	p.Trp200Arg	rs780979789	missense variant	-	NC_000001.11:g.45508964T>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Trp200Ter	rs796051997	stop gained	-	NC_000001.11:g.45508966G>A	gnomAD
MMACHC	Q9Y4U1	p.Arg201Cys	rs752368805	missense variant	-	NC_000001.11:g.45508967C>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg201His	rs200515707	missense variant	-	NC_000001.11:g.45508968G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Trp203Ter	rs587776889	stop gained	-	NC_000001.11:g.45508975G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Trp203Ter	RCV000756343	nonsense	-	NC_000001.11:g.45508975G>A	ClinVar
MMACHC	Q9Y4U1	p.Trp203Ter	rs398124295	stop gained	-	NC_000001.11:g.45508974G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Trp203Ter	RCV000023785	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508975G>A	ClinVar
MMACHC	Q9Y4U1	p.Trp203Ter	RCV000383499	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508974G>A	ClinVar
MMACHC	Q9Y4U1	p.Trp203Ter	RCV000790827	nonsense	-	NC_000001.11:g.45508974G>A	ClinVar
MMACHC	Q9Y4U1	p.Tyr205Ter	rs747527726	stop gained	-	NC_000001.11:g.45508981C>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Tyr205Ter	rs1383465849	stop gained	-	NC_000001.11:g.45508980dup	TOPMed
MMACHC	Q9Y4U1	p.Tyr205Ter	RCV000674536	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508981C>A	ClinVar
MMACHC	Q9Y4U1	p.Tyr205Ter	RCV000267790	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508981C>G	ClinVar
MMACHC	Q9Y4U1	p.Tyr205Ter	rs747527726	stop gained	-	NC_000001.11:g.45508981C>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Tyr205Ter	RCV000723444	nonsense	-	NC_000001.11:g.45508981C>G	ClinVar
MMACHC	Q9Y4U1	p.Arg206Pro	RCV000674571	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508983G>C	ClinVar
MMACHC	Q9Y4U1	p.Arg206Trp	rs538023671	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508982C>T	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Arg206Trp	VAR_024783	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508982C>T	UniProt
MMACHC	Q9Y4U1	p.Arg206Trp	rs538023671	missense variant	-	NC_000001.11:g.45508982C>T	1000Genomes
MMACHC	Q9Y4U1	p.Arg206Pro	rs371753672	missense variant	-	NC_000001.11:g.45508983G>C	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg206Pro	rs371753672	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508983G>C	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Arg206Pro	VAR_024782	missense variant	Methylmalonic aciduria and homocystinuria, cblC type (MAHCC)	NC_000001.11:g.45508983G>C	UniProt
MMACHC	Q9Y4U1	p.Arg206Gln	rs371753672	missense variant	-	NC_000001.11:g.45508983G>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg206Trp	RCV000490478	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508982C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg206Gly	rs538023671	missense variant	-	NC_000001.11:g.45508982C>G	1000Genomes
MMACHC	Q9Y4U1	p.Asp207His	rs867614301	missense variant	-	NC_000001.11:g.45508985G>C	TOPMed
MMACHC	Q9Y4U1	p.Asp207Ter	RCV000668405	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508985dup	ClinVar
MMACHC	Q9Y4U1	p.Asp207Gly	NCI-TCGA novel	missense variant	-	NC_000001.11:g.45508986A>G	NCI-TCGA
MMACHC	Q9Y4U1	p.Ala208Pro	rs1456124203	missense variant	-	NC_000001.11:g.45508988G>C	gnomAD
MMACHC	Q9Y4U1	p.Val209Ala	rs376653350	missense variant	-	NC_000001.11:g.45508992T>C	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Val209Glu	rs376653350	missense variant	-	NC_000001.11:g.45508992T>A	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Val209Gly	rs376653350	missense variant	-	NC_000001.11:g.45508992T>G	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Val209Ter	RCV000664669	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45508990_45508991TG[1]	ClinVar
MMACHC	Q9Y4U1	p.Pro211Leu	rs763196419	missense variant	-	NC_000001.11:g.45508998C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro211Thr	rs192924272	missense variant	-	NC_000001.11:g.45508997C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro211Ser	rs192924272	missense variant	-	NC_000001.11:g.45508997C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gln212Arg	rs1235087664	missense variant	-	NC_000001.11:g.45509001A>G	gnomAD
MMACHC	Q9Y4U1	p.Glu213Lys	rs759474531	missense variant	-	NC_000001.11:g.45509003G>A	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Arg214His	rs202189863	missense variant	-	NC_000001.11:g.45509007G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg214Cys	rs1209388287	missense variant	-	NC_000001.11:g.45509006C>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg214His	RCV000588709	missense variant	-	NC_000001.11:g.45509007G>A	ClinVar
MMACHC	Q9Y4U1	p.Tyr215His	rs755843695	missense variant	-	NC_000001.11:g.45509009T>C	ExAC
MMACHC	Q9Y4U1	p.Ser216Pro	rs763851000	missense variant	-	NC_000001.11:g.45509012T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Glu217Gly	RCV000732513	missense variant	-	NC_000001.11:g.45509016A>G	ClinVar
MMACHC	Q9Y4U1	p.Glu217Val	rs199641732	missense variant	-	NC_000001.11:g.45509016A>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Glu217Ter	rs483352740	stop gained	-	NC_000001.11:g.45509015G>T	-
MMACHC	Q9Y4U1	p.Glu217Gly	rs199641732	missense variant	-	NC_000001.11:g.45509016A>G	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Glu217Val	RCV000555947	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509016A>T	ClinVar
MMACHC	Q9Y4U1	p.Glu217Ter	RCV000087225	nonsense	-	NC_000001.11:g.45509015G>T	ClinVar
MMACHC	Q9Y4U1	p.Lys220Thr	rs778566338	missense variant	-	NC_000001.11:g.45509025A>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Lys220Glu	rs200023742	missense variant	-	NC_000001.11:g.45509024A>G	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Tyr222Ter	rs201266016	stop gained	-	NC_000001.11:g.45509032C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Tyr222Ter	RCV000590695	nonsense	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509032C>A	ClinVar
MMACHC	Q9Y4U1	p.Phe223Leu	rs1317317356	missense variant	-	NC_000001.11:g.45509033T>C	gnomAD
MMACHC	Q9Y4U1	p.Pro226Ala	rs781527733	missense variant	-	NC_000001.11:g.45509042C>G	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ala228Val	RCV000372673	missense variant	-	NC_000001.11:g.45509049C>T	ClinVar
MMACHC	Q9Y4U1	p.Ala228Thr	rs1293828047	missense variant	-	NC_000001.11:g.45509048G>A	gnomAD
MMACHC	Q9Y4U1	p.Ala228Val	rs201269886	missense variant	-	NC_000001.11:g.45509049C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gln229His	rs369621922	missense variant	-	NC_000001.11:g.45509053A>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Gln229Ter	rs770084300	stop gained	-	NC_000001.11:g.45509051C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Arg230Gln	rs771074986	missense variant	-	NC_000001.11:g.45509055G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg230Leu	rs771074986	missense variant	-	NC_000001.11:g.45509055G>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg230Ter	rs201183360	stop gained	-	NC_000001.11:g.45509054C>T	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg230Ter	RCV000579162	nonsense	-	NC_000001.11:g.45509054C>T	ClinVar
MMACHC	Q9Y4U1	p.Leu233Val	rs775262447	missense variant	-	NC_000001.11:g.45509063C>G	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Leu234Ser	rs763806701	missense variant	-	NC_000001.11:g.45509067T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Leu234Ter	RCV000665427	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509067del	ClinVar
MMACHC	Q9Y4U1	p.Gly235Cys	rs369990884	missense variant	-	NC_000001.11:g.45509069G>T	ESP,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Leu236Ser	rs1365060911	missense variant	-	NC_000001.11:g.45509073T>C	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ala237Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.45509076C>T	NCI-TCGA
MMACHC	Q9Y4U1	p.Gln238His	rs1157602192	missense variant	-	NC_000001.11:g.45509080G>C	gnomAD
MMACHC	Q9Y4U1	p.Gln238Ter	rs757033378	stop gained	-	NC_000001.11:g.45509078C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro239Leu	rs1302848923	missense variant	-	NC_000001.11:g.45509082C>T	TOPMed
MMACHC	Q9Y4U1	p.Ser240Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.45509085C>G	NCI-TCGA
MMACHC	Q9Y4U1	p.Glu241Ter	rs1053431976	stop gained	-	NC_000001.11:g.45509087G>T	TOPMed
MMACHC	Q9Y4U1	p.Lys242Gln	rs1374705240	missense variant	-	NC_000001.11:g.45509090A>C	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro243Ter	RCV000665918	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509094del	ClinVar
MMACHC	Q9Y4U1	p.Pro243Ala	rs757948554	missense variant	-	NC_000001.11:g.45509093C>G	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro243Ser	rs757948554	missense variant	-	NC_000001.11:g.45509093C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ser245Pro	rs779575471	missense variant	-	NC_000001.11:g.45509099T>C	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro248Leu	rs564280688	missense variant	-	NC_000001.11:g.45509109C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro248Ser	rs1199712788	missense variant	-	NC_000001.11:g.45509108C>T	TOPMed
MMACHC	Q9Y4U1	p.Pro248Arg	rs564280688	missense variant	-	NC_000001.11:g.45509109C>G	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Asp249Ter	RCV000672531	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509111dup	ClinVar
MMACHC	Q9Y4U1	p.Pro251Leu	rs1236859793	missense variant	-	NC_000001.11:g.45509118C>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro251His	rs1236859793	missense variant	-	NC_000001.11:g.45509118C>A	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Phe252Leu	rs749648988	missense variant	-	NC_000001.11:g.45509120T>C	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro255Leu	rs375804663	missense variant	-	NC_000001.11:g.45509130C>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro255Ala	rs533256855	missense variant	-	NC_000001.11:g.45509129C>G	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro255Thr	rs533256855	missense variant	-	NC_000001.11:g.45509129C>A	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro255Ser	rs533256855	missense variant	-	NC_000001.11:g.45509129C>T	1000Genomes,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ala256Thr	rs187494806	missense variant	-	NC_000001.11:g.45509132G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ala256Pro	rs187494806	missense variant	-	NC_000001.11:g.45509132G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro257Ser	rs1437903874	missense variant	-	NC_000001.11:g.45509135C>T	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Pro257Leu	rs201601241	missense variant	-	NC_000001.11:g.45509136C>T	ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Lys258Arg	rs1163128163	missense variant	-	NC_000001.11:g.45509139A>G	gnomAD
MMACHC	Q9Y4U1	p.Lys258Ter	RCV000667683	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509137dup	ClinVar
MMACHC	Q9Y4U1	p.Pro260Ser	COSM1343054	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.45509144C>T	NCI-TCGA Cosmic
MMACHC	Q9Y4U1	p.Pro263Ser	rs1405816779	missense variant	-	NC_000001.11:g.45509153C>T	TOPMed
MMACHC	Q9Y4U1	p.Ser264Asn	rs977290598	missense variant	-	NC_000001.11:g.45509157G>A	TOPMed
MMACHC	Q9Y4U1	p.Ser264Arg	rs1176659824	missense variant	-	NC_000001.11:g.45509156A>C	TOPMed
MMACHC	Q9Y4U1	p.Ala266Ser	rs765022621	missense variant	-	NC_000001.11:g.45509162G>T	ExAC
MMACHC	Q9Y4U1	p.Arg267Trp	RCV000424361	missense variant	-	NC_000001.11:g.45509165C>T	ClinVar
MMACHC	Q9Y4U1	p.Arg267Ter	RCV000673433	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509165dup	ClinVar
MMACHC	Q9Y4U1	p.Arg267Gln	rs765822392	missense variant	-	NC_000001.11:g.45509166G>A	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg267Trp	rs34258482	missense variant	-	NC_000001.11:g.45509165C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg267Gly	rs34258482	missense variant	-	NC_000001.11:g.45509165C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg267Gln	RCV000670026	missense variant	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509166G>A	ClinVar
MMACHC	Q9Y4U1	p.Ser268Arg	rs941778714	missense variant	-	NC_000001.11:g.45509170C>A	gnomAD
MMACHC	Q9Y4U1	p.Leu270Val	rs756647292	missense variant	-	NC_000001.11:g.45509174C>G	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ser271Gly	rs35219601	missense variant	-	NC_000001.11:g.45509177A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ser271Gly	rs35219601	missense variant	-	NC_000001.11:g.45509177A>G	UniProt,dbSNP
MMACHC	Q9Y4U1	p.Ser271Gly	VAR_038805	missense variant	-	NC_000001.11:g.45509177A>G	UniProt
MMACHC	Q9Y4U1	p.Ser271Gly	RCV000287880	missense variant	Disorders of Intracellular Cobalamin Metabolism	NC_000001.11:g.45509177A>G	ClinVar
MMACHC	Q9Y4U1	p.Ser271Gly	RCV000245390	missense variant	-	NC_000001.11:g.45509177A>G	ClinVar
MMACHC	Q9Y4U1	p.Pro272Ser	rs910738222	missense variant	-	NC_000001.11:g.45509180C>T	TOPMed
MMACHC	Q9Y4U1	p.Arg273Ser	rs1231620127	missense variant	-	NC_000001.11:g.45509185G>C	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Arg273Lys	rs1460672740	missense variant	-	NC_000001.11:g.45509184G>A	TOPMed
MMACHC	Q9Y4U1	p.Val274Ala	rs569132013	missense variant	-	NC_000001.11:g.45509187T>C	1000Genomes,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Val274Ile	rs372444141	missense variant	-	NC_000001.11:g.45509186G>A	ESP,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Ser275Leu	rs1235862535	missense variant	-	NC_000001.11:g.45509190C>T	gnomAD
MMACHC	Q9Y4U1	p.Pro276Leu	rs538081709	missense variant	-	NC_000001.11:g.45509193C>T	1000Genomes,ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro277Ser	rs747095198	missense variant	-	NC_000001.11:g.45509195C>T	ExAC,gnomAD
MMACHC	Q9Y4U1	p.Pro280Ter	RCV000671373	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509205del	ClinVar
MMACHC	Q9Y4U1	p.Gly281Ter	RCV000670097	frameshift	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509206del	ClinVar
MMACHC	Q9Y4U1	p.Pro282Thr	rs1553163019	missense variant	-	NC_000001.11:g.45509210C>A	-
MMACHC	Q9Y4U1	p.Pro282Thr	RCV000587167	missense variant	-	NC_000001.11:g.45509210C>A	ClinVar
MMACHC	Q9Y4U1	p.Pro282Arg	rs1172284374	missense variant	-	NC_000001.11:g.45509211C>G	TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ter283Ser	RCV000729719	stop lost	-	NC_000001.11:g.45509214G>C	ClinVar
MMACHC	Q9Y4U1	p.Ter283Ser	rs201025783	stop lost	-	NC_000001.11:g.45509214G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ter283Arg	rs768524449	stop lost	-	NC_000001.11:g.45509213T>A	ExAC
MMACHC	Q9Y4U1	p.Ter283Unk	rs1553163024	stop lost	-	NC_000001.11:g.45509214del	-
MMACHC	Q9Y4U1	p.Ter283Tyr	RCV000666710	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509214del	ClinVar
MMACHC	Q9Y4U1	p.Ter283Trp	RCV000665683	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509215A>G	ClinVar
MMACHC	Q9Y4U1	p.Ter283Cys	RCV000672192	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509215del	ClinVar
MMACHC	Q9Y4U1	p.Ter283Phe	RCV000670268	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509214_45509217del	ClinVar
MMACHC	Q9Y4U1	p.Ter283Leu	RCV000178303	stop lost	-	NC_000001.11:g.45509214G>T	ClinVar
MMACHC	Q9Y4U1	p.Ter283Unk	rs1553163027	stop lost	-	NC_000001.11:g.45509215del	-
MMACHC	Q9Y4U1	p.Ter283Leu	rs201025783	stop lost	-	NC_000001.11:g.45509214G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ter283Trp	rs769732556	stop lost	-	NC_000001.11:g.45509215A>G	ExAC,TOPMed,gnomAD
MMACHC	Q9Y4U1	p.Ter283Ser	RCV000669635	stop lost	Methylmalonic acidemia with homocystinuria (MAHCC)	NC_000001.11:g.45509214G>C	ClinVar
MMACHC	Q9Y4U1	p.Ter283Ser	RCV000780428	stop lost	-	NC_000001.11:g.45509214G>C	ClinVar
HSPB11	Q9Y547	p.Lys3Glu	rs573242280	missense variant	-	NC_000001.11:g.53940076T>C	1000Genomes,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Lys3Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53940074T>G	NCI-TCGA
HSPB11	Q9Y547	p.Ile4Thr	rs200095391	missense variant	-	NC_000001.11:g.53940072A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Asp5Tyr	rs1396752834	missense variant	-	NC_000001.11:g.53940070C>A	TOPMed,gnomAD
HSPB11	Q9Y547	p.Asp5His	rs1396752834	missense variant	-	NC_000001.11:g.53940070C>G	TOPMed,gnomAD
HSPB11	Q9Y547	p.Leu6Ile	rs980627724	missense variant	-	NC_000001.11:g.53940067G>T	TOPMed,gnomAD
HSPB11	Q9Y547	p.Cys7Ser	rs774397250	missense variant	-	NC_000001.11:g.53940063C>G	ExAC,gnomAD
HSPB11	Q9Y547	p.Leu8Gln	COSM464770	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.53940060A>T	NCI-TCGA Cosmic
HSPB11	Q9Y547	p.Leu8Pro	rs1309898266	missense variant	-	NC_000001.11:g.53940060A>G	TOPMed,gnomAD
HSPB11	Q9Y547	p.Glu11Lys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53940052C>T	NCI-TCGA
HSPB11	Q9Y547	p.Gly12Arg	rs1188585546	missense variant	-	NC_000001.11:g.53940049C>T	gnomAD
HSPB11	Q9Y547	p.Glu14Lys	rs201720563	missense variant	-	NC_000001.11:g.53940043C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Glu14Gln	rs201720563	missense variant	-	NC_000001.11:g.53940043C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Ala18Thr	rs1167114730	missense variant	-	NC_000001.11:g.53940031C>T	TOPMed,gnomAD
HSPB11	Q9Y547	p.Thr19Ile	rs1425852767	missense variant	-	NC_000001.11:g.53940027G>A	gnomAD
HSPB11	Q9Y547	p.Ser20Thr	rs1414966589	missense variant	-	NC_000001.11:g.53940025A>T	gnomAD
HSPB11	Q9Y547	p.Ser21Gly	rs1182141590	missense variant	-	NC_000001.11:g.53940022T>C	gnomAD
HSPB11	Q9Y547	p.His25Asn	rs776141122	missense variant	-	NC_000001.11:g.53940010G>T	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Pro26Gln	rs1477131139	missense variant	-	NC_000001.11:g.53940006G>T	TOPMed
HSPB11	Q9Y547	p.Asn29Ser	rs1472246419	missense variant	-	NC_000001.11:g.53939997T>C	TOPMed,gnomAD
HSPB11	Q9Y547	p.Ile30Thr	rs370367573	missense variant	-	NC_000001.11:g.53939994A>G	ESP,TOPMed,gnomAD
HSPB11	Q9Y547	p.Ile31Thr	rs548680262	missense variant	-	NC_000001.11:g.53939991A>G	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Gly33Arg	rs748436535	missense variant	-	NC_000001.11:g.53939986C>T	ExAC,gnomAD
HSPB11	Q9Y547	p.Pro35Thr	rs774579110	missense variant	-	NC_000001.11:g.53930141G>T	ExAC,gnomAD
HSPB11	Q9Y547	p.Glu36Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.53930138C>A	NCI-TCGA
HSPB11	Q9Y547	p.Thr37Met	rs769134105	missense variant	-	NC_000001.11:g.53930134G>A	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Phe38Val	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53930132A>C	NCI-TCGA
HSPB11	Q9Y547	p.Thr40Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53930125G>A	NCI-TCGA
HSPB11	Q9Y547	p.Thr41Ala	rs780679621	missense variant	-	NC_000001.11:g.53930123T>C	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Met44Thr	rs1335449507	missense variant	-	NC_000001.11:g.53930113A>G	TOPMed
HSPB11	Q9Y547	p.Pro46Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53930107G>A	NCI-TCGA
HSPB11	Q9Y547	p.Gln47His	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53930103C>A	NCI-TCGA
HSPB11	Q9Y547	p.Ile50Val	rs745958906	missense variant	-	NC_000001.11:g.53930096T>C	ExAC,gnomAD
HSPB11	Q9Y547	p.Ile50Asn	rs1418048144	missense variant	-	NC_000001.11:g.53930095A>T	gnomAD
HSPB11	Q9Y547	p.Phe53Cys	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53930086A>C	NCI-TCGA
HSPB11	Q9Y547	p.His54Tyr	COSM3985142	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.53930084G>A	NCI-TCGA Cosmic
HSPB11	Q9Y547	p.His54Leu	rs781293591	missense variant	-	NC_000001.11:g.53930083T>A	ExAC,gnomAD
HSPB11	Q9Y547	p.His54Arg	rs781293591	missense variant	-	NC_000001.11:g.53930083T>C	ExAC,gnomAD
HSPB11	Q9Y547	p.His56Leu	rs777486814	missense variant	-	NC_000001.11:g.53930077T>A	ExAC,gnomAD
HSPB11	Q9Y547	p.His56Arg	rs777486814	missense variant	-	NC_000001.11:g.53930077T>C	ExAC,gnomAD
HSPB11	Q9Y547	p.Val57Ala	rs1486789772	missense variant	-	NC_000001.11:g.53930074A>G	gnomAD
HSPB11	Q9Y547	p.Val57Ile	rs1211286843	missense variant	-	NC_000001.11:g.53930075C>T	gnomAD
HSPB11	Q9Y547	p.Arg58Ser	COSM4860088	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.53930070C>A	NCI-TCGA Cosmic
HSPB11	Q9Y547	p.Arg58Met	rs1259234476	missense variant	-	NC_000001.11:g.53930071C>A	gnomAD
HSPB11	Q9Y547	p.Ile59Asn	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53930068A>T	NCI-TCGA
HSPB11	Q9Y547	p.Val63Ile	rs752670381	missense variant	-	NC_000001.11:g.53930057C>T	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Gln65His	rs1313892159	missense variant	-	NC_000001.11:g.53930049T>G	TOPMed,gnomAD
HSPB11	Q9Y547	p.Gln65Arg	rs759417292	missense variant	-	NC_000001.11:g.53930050T>C	ExAC,gnomAD
HSPB11	Q9Y547	p.Ser66Asn	rs1201147575	missense variant	-	NC_000001.11:g.53930047C>T	TOPMed
HSPB11	Q9Y547	p.Ser66Ile	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53930047C>A	NCI-TCGA
HSPB11	Q9Y547	p.Tyr67Phe	rs562499809	missense variant	-	NC_000001.11:g.53930044T>A	1000Genomes
HSPB11	Q9Y547	p.Thr71Ile	rs368867483	missense variant	-	NC_000001.11:g.53928434G>A	ESP,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Thr71Ser	rs368867483	missense variant	-	NC_000001.11:g.53928434G>C	ESP,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Lys73Glu	rs1228554363	missense variant	-	NC_000001.11:g.53928429T>C	gnomAD
HSPB11	Q9Y547	p.Ile74Val	rs770226191	missense variant	-	NC_000001.11:g.53928426T>C	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Lys76Glu	rs1363764083	missense variant	-	NC_000001.11:g.53928420T>C	TOPMed
HSPB11	Q9Y547	p.Thr78Met	rs560478633	missense variant	-	NC_000001.11:g.53928413G>A	1000Genomes,ExAC,gnomAD
HSPB11	Q9Y547	p.Lys80Glu	rs1369627561	missense variant	-	NC_000001.11:g.53928408T>C	gnomAD
HSPB11	Q9Y547	p.Val83Leu	rs1385648298	missense variant	-	NC_000001.11:g.53928399C>G	TOPMed
HSPB11	Q9Y547	p.Val83Ala	rs779438262	missense variant	-	NC_000001.11:g.53928398A>G	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Val83Gly	rs779438262	missense variant	-	NC_000001.11:g.53928398A>C	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Trp88Arg	COSM910823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.53928384A>G	NCI-TCGA Cosmic
HSPB11	Q9Y547	p.Trp88Ter	NCI-TCGA novel	stop gained	-	NC_000001.11:g.53928383C>T	NCI-TCGA
HSPB11	Q9Y547	p.Trp88Cys	rs777778737	missense variant	-	NC_000001.11:g.53928382C>A	ExAC,gnomAD
HSPB11	Q9Y547	p.Lys91Thr	rs772309695	missense variant	-	NC_000001.11:g.53928374T>G	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Asp92His	rs748299089	missense variant	-	NC_000001.11:g.53928372C>G	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Glu97Ala	rs748423925	missense variant	-	NC_000001.11:g.53923932T>G	ExAC
HSPB11	Q9Y547	p.Gln99Ter	rs774529000	stop gained	-	NC_000001.11:g.53923927G>A	ExAC,gnomAD
HSPB11	Q9Y547	p.Leu100Pro	rs570139005	missense variant	-	NC_000001.11:g.53923923A>G	1000Genomes,ExAC,gnomAD
HSPB11	Q9Y547	p.Glu103Lys	rs1220591599	missense variant	-	NC_000001.11:g.53923915C>T	gnomAD
HSPB11	Q9Y547	p.Glu104Gly	rs1254315719	missense variant	-	NC_000001.11:g.53923911T>C	TOPMed
HSPB11	Q9Y547	p.Glu104Asp	rs184845070	missense variant	-	NC_000001.11:g.53923910T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Ile105Thr	rs756083768	missense variant	-	NC_000001.11:g.53923908A>G	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Ile105Leu	rs779676824	missense variant	-	NC_000001.11:g.53923909T>G	ExAC,gnomAD
HSPB11	Q9Y547	p.Val106Leu	rs745744254	missense variant	-	NC_000001.11:g.53923906C>A	ExAC,gnomAD
HSPB11	Q9Y547	p.His108Arg	rs745868802	missense variant	-	NC_000001.11:g.53921763T>C	ExAC,gnomAD
HSPB11	Q9Y547	p.His108Gln	rs374388539	missense variant	-	NC_000001.11:g.53921762A>T	ESP,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Gly110Asp	rs746538301	missense variant	-	NC_000001.11:g.53921757C>T	ExAC,gnomAD
HSPB11	Q9Y547	p.Ser111Cys	COSM4832589	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.53921754G>C	NCI-TCGA Cosmic
HSPB11	Q9Y547	p.Ala112Ser	rs184049812	missense variant	-	NC_000001.11:g.53921752C>A	1000Genomes,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Ala112Thr	rs184049812	missense variant	-	NC_000001.11:g.53921752C>T	1000Genomes,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Thr113Ala	rs780521375	missense variant	-	NC_000001.11:g.53921749T>C	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Thr113Ser	COSM1343468	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.53921748G>C	NCI-TCGA Cosmic
HSPB11	Q9Y547	p.Tyr114Ter	rs750981811	stop gained	-	NC_000001.11:g.53921744G>T	ExAC,gnomAD
HSPB11	Q9Y547	p.Tyr114Ter	rs750981811	stop gained	-	NC_000001.11:g.53921744G>C	ExAC,gnomAD
HSPB11	Q9Y547	p.Phe117Leu	rs1212638637	missense variant	-	NC_000001.11:g.53921735G>T	gnomAD
HSPB11	Q9Y547	p.Ile118Val	rs1338468522	missense variant	-	NC_000001.11:g.53921734T>C	TOPMed,gnomAD
HSPB11	Q9Y547	p.Val120Ile	rs1298693760	missense variant	-	NC_000001.11:g.53921728C>T	gnomAD
HSPB11	Q9Y547	p.Ala122Thr	rs140103685	missense variant	-	NC_000001.11:g.53921722C>T	1000Genomes,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Asp124Ala	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53921715T>G	NCI-TCGA
HSPB11	Q9Y547	p.Asp124His	rs1368887125	missense variant	-	NC_000001.11:g.53921716C>G	gnomAD
HSPB11	Q9Y547	p.Ala127Ser	rs751666876	missense variant	-	NC_000001.11:g.53921707C>A	ExAC,gnomAD
HSPB11	Q9Y547	p.Val129Leu	rs558406534	missense variant	-	NC_000001.11:g.53921701C>G	1000Genomes,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.His130Tyr	rs1220163114	missense variant	-	NC_000001.11:g.53921698G>A	TOPMed
HSPB11	Q9Y547	p.His130Arg	rs769672593	missense variant	-	NC_000001.11:g.53921697T>C	ExAC,gnomAD
HSPB11	Q9Y547	p.Ser131Gly	rs759380969	missense variant	-	NC_000001.11:g.53921695T>C	ExAC,gnomAD
HSPB11	Q9Y547	p.Ser131Asn	rs776516954	missense variant	-	NC_000001.11:g.53921694C>T	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Val132Ala	rs377747922	missense variant	-	NC_000001.11:g.53921691A>G	ESP,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Val132Ile	rs746875573	missense variant	-	NC_000001.11:g.53921692C>T	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Ser133Ala	rs771467847	missense variant	-	NC_000001.11:g.53921689A>C	ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Ala134Thr	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53921686C>T	NCI-TCGA
HSPB11	Q9Y547	p.Val138Ile	rs1209581911	missense variant	-	NC_000001.11:g.53921674C>T	TOPMed
HSPB11	Q9Y547	p.Ser140Leu	NCI-TCGA novel	missense variant	-	NC_000001.11:g.53921667G>A	NCI-TCGA
HSPB11	Q9Y547	p.Asn141Asp	rs1377690001	missense variant	-	NC_000001.11:g.53921665T>C	gnomAD
HSPB11	Q9Y547	p.Leu142Pro	rs374128989	missense variant	-	NC_000001.11:g.53921661A>G	ESP,ExAC,TOPMed,gnomAD
HSPB11	Q9Y547	p.Ser144Leu	rs1489385582	missense variant	-	NC_000001.11:g.53921655G>A	TOPMed
HSPB11	Q9Y547	p.Ter145Gln	rs781473632	stop lost	-	NC_000001.11:g.53921653A>G	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ala2Val	rs1182912123	missense variant	-	NC_000020.11:g.40688846G>A	gnomAD
MAFB	Q9Y5Q3	p.Ala3Thr	rs200121747	missense variant	-	NC_000020.11:g.40688844C>T	1000Genomes,ExAC,gnomAD
MAFB	Q9Y5Q3	p.Glu4Ala	rs745460952	missense variant	-	NC_000020.11:g.40688840T>G	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ser6Asn	rs778428156	missense variant	-	NC_000020.11:g.40688834C>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Met7Ile	rs889345911	missense variant	-	NC_000020.11:g.40688830C>T	TOPMed
MAFB	Q9Y5Q3	p.Met7Ile	rs889345911	missense variant	-	NC_000020.11:g.40688830C>A	TOPMed
MAFB	Q9Y5Q3	p.Gly8Arg	rs1265509172	missense variant	-	NC_000020.11:g.40688829C>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gly8Arg	rs1265509172	missense variant	-	NC_000020.11:g.40688829C>G	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Glu10Gly	rs756994138	missense variant	-	NC_000020.11:g.40688822T>C	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Glu10Ala	rs756994138	missense variant	-	NC_000020.11:g.40688822T>G	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Glu10Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688823C>T	NCI-TCGA
MAFB	Q9Y5Q3	p.Pro12Ser	rs1185769365	missense variant	-	NC_000020.11:g.40688817G>A	TOPMed
MAFB	Q9Y5Q3	p.Ser14Arg	rs199769070	missense variant	-	NC_000020.11:g.40688809G>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Pro15Gln	rs1379550152	missense variant	-	NC_000020.11:g.40688807G>T	gnomAD
MAFB	Q9Y5Q3	p.Ala17Thr	rs753326927	missense variant	-	NC_000020.11:g.40688802C>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala17Asp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688801G>T	NCI-TCGA
MAFB	Q9Y5Q3	p.Glu19Gln	rs777309003	missense variant	-	NC_000020.11:g.40688796C>G	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Asn22Ser	rs1408530531	missense variant	-	NC_000020.11:g.40688786T>C	TOPMed
MAFB	Q9Y5Q3	p.Phe29Leu	rs1354253826	missense variant	-	NC_000020.11:g.40688764G>C	TOPMed
MAFB	Q9Y5Q3	p.Glu34Lys	rs1218714074	missense variant	-	NC_000020.11:g.40688751C>T	TOPMed
MAFB	Q9Y5Q3	p.Leu36Val	rs765363066	missense variant	-	NC_000020.11:g.40688745G>C	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Gly37Glu	rs762174141	missense variant	-	NC_000020.11:g.40688741C>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Arg38Cys	rs776821286	missense variant	-	NC_000020.11:g.40688739G>A	NCI-TCGA,NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Arg38Cys	rs776821286	missense variant	-	NC_000020.11:g.40688739G>A	ExAC,TOPMed
MAFB	Q9Y5Q3	p.Arg38Gly	rs776821286	missense variant	-	NC_000020.11:g.40688739G>C	ExAC,TOPMed
MAFB	Q9Y5Q3	p.Ala39Pro	rs1418136550	missense variant	-	NC_000020.11:g.40688736C>G	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Glu40Gln	rs760632449	missense variant	-	NC_000020.11:g.40688733C>G	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Glu40Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688733C>T	NCI-TCGA
MAFB	Q9Y5Q3	p.Arg41Ser	rs775295119	missense variant	-	NC_000020.11:g.40688730G>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Pro42Leu	rs1290466873	missense variant	-	NC_000020.11:g.40688726G>A	gnomAD
MAFB	Q9Y5Q3	p.Pro42Leu	RCV000728664	missense variant	-	NC_000020.11:g.40688726G>A	ClinVar
MAFB	Q9Y5Q3	p.Pro42Gln	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688726G>T	NCI-TCGA
MAFB	Q9Y5Q3	p.Gly43Asp	rs745639181	missense variant	-	NC_000020.11:g.40688723C>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Pro45Leu	rs1238714295	missense variant	-	NC_000020.11:g.40688717G>A	gnomAD
MAFB	Q9Y5Q3	p.Cys46Ter	RCV000599139	frameshift	-	NC_000020.11:g.40688718del	ClinVar
MAFB	Q9Y5Q3	p.Cys46Arg	rs556212539	missense variant	-	NC_000020.11:g.40688715A>G	1000Genomes,ExAC,gnomAD
MAFB	Q9Y5Q3	p.Thr47Ile	rs892255768	missense variant	-	NC_000020.11:g.40688711G>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Thr47Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688712T>C	NCI-TCGA
MAFB	Q9Y5Q3	p.Arg48Ser	rs777211337	missense variant	-	NC_000020.11:g.40688709G>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Arg48His	rs1016321497	missense variant	-	NC_000020.11:g.40688708C>T	gnomAD
MAFB	Q9Y5Q3	p.Arg48Cys	rs777211337	missense variant	-	NC_000020.11:g.40688709G>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ala52Asp	rs1208629793	missense variant	-	NC_000020.11:g.40688696G>T	TOPMed
MAFB	Q9Y5Q3	p.Ser54Leu	RCV000023752	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688690G>A	ClinVar
MAFB	Q9Y5Q3	p.Ser54Leu	rs730880014	missense variant	-	NC_000020.11:g.40688690G>A	-
MAFB	Q9Y5Q3	p.Ser54Leu	RCV000724296	missense variant	-	NC_000020.11:g.40688690G>A	ClinVar
MAFB	Q9Y5Q3	p.Pro59Leu	VAR_067980	Missense	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]	-	UniProt
MAFB	Q9Y5Q3	p.Leu60Ile	rs750730032	missense variant	-	NC_000020.11:g.40688673G>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Leu60Phe	rs750730032	missense variant	-	NC_000020.11:g.40688673G>A	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Leu60His	rs200497222	missense variant	-	NC_000020.11:g.40688672A>T	1000Genomes,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Thr62Pro	rs387907004	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688667T>G	UniProt,dbSNP
MAFB	Q9Y5Q3	p.Thr62Pro	VAR_067981	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688667T>G	UniProt
MAFB	Q9Y5Q3	p.Thr62Pro	rs387907004	missense variant	-	NC_000020.11:g.40688667T>G	-
MAFB	Q9Y5Q3	p.Thr62Pro	RCV000023747	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688667T>G	ClinVar
MAFB	Q9Y5Q3	p.Pro63Arg	VAR_067982	Missense	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]	-	UniProt
MAFB	Q9Y5Q3	p.Ser65Asn	rs1261578040	missense variant	-	NC_000020.11:g.40688657C>T	gnomAD
MAFB	Q9Y5Q3	p.Ser66Cys	VAR_067983	Missense	Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]	-	UniProt
MAFB	Q9Y5Q3	p.Ser69Leu	rs1555826433	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688645G>A	UniProt,dbSNP
MAFB	Q9Y5Q3	p.Ser69Leu	VAR_067984	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688645G>A	UniProt
MAFB	Q9Y5Q3	p.Ser69Leu	rs1555826433	missense variant	-	NC_000020.11:g.40688645G>A	-
MAFB	Q9Y5Q3	p.Ser69Leu	RCV000497479	missense variant	-	NC_000020.11:g.40688645G>A	ClinVar
MAFB	Q9Y5Q3	p.Ser70Ala	rs387907005	missense variant	-	NC_000020.11:g.40688643A>C	-
MAFB	Q9Y5Q3	p.Ser70Ala	rs387907005	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688643A>C	UniProt,dbSNP
MAFB	Q9Y5Q3	p.Ser70Ala	VAR_067985	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688643A>C	UniProt
MAFB	Q9Y5Q3	p.Ser70Leu	RCV000023749	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688642G>A	ClinVar
MAFB	Q9Y5Q3	p.Ser70Ala	RCV000023748	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688643A>C	ClinVar
MAFB	Q9Y5Q3	p.Ser70Leu	rs387907006	missense variant	-	NC_000020.11:g.40688642G>A	-
MAFB	Q9Y5Q3	p.Ser70Leu	rs387907006	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688642G>A	UniProt,dbSNP
MAFB	Q9Y5Q3	p.Ser70Leu	VAR_067986	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688642G>A	UniProt
MAFB	Q9Y5Q3	p.Pro71Ser	RCV000023750	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688640G>A	ClinVar
MAFB	Q9Y5Q3	p.Pro71Ser	rs387907007	missense variant	-	NC_000020.11:g.40688640G>A	-
MAFB	Q9Y5Q3	p.Pro71Ser	rs387907007	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688640G>A	UniProt,dbSNP
MAFB	Q9Y5Q3	p.Pro71Ser	VAR_067988	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688640G>A	UniProt
MAFB	Q9Y5Q3	p.Pro71Leu	RCV000023751	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688639G>A	ClinVar
MAFB	Q9Y5Q3	p.Pro71Leu	rs387907008	missense variant	-	NC_000020.11:g.40688639G>A	-
MAFB	Q9Y5Q3	p.Pro71Leu	rs387907008	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688639G>A	UniProt,dbSNP
MAFB	Q9Y5Q3	p.Pro71Leu	VAR_067987	missense variant	Multicentric carpotarsal osteolysis syndrome (MCTO)	NC_000020.11:g.40688639G>A	UniProt
MAFB	Q9Y5Q3	p.Ser72Arg	rs775699125	missense variant	-	NC_000020.11:g.40688637T>G	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Thr76Asn	rs138989733	missense variant	-	NC_000020.11:g.40688624G>T	ESP,TOPMed
MAFB	Q9Y5Q3	p.Glu77Lys	rs1268494486	missense variant	-	NC_000020.11:g.40688622C>T	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Glu77Lys	rs1268494486	missense variant	-	NC_000020.11:g.40688622C>T	gnomAD
MAFB	Q9Y5Q3	p.His81Gln	rs1278905342	missense variant	-	NC_000020.11:g.40688608G>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Leu82Ile	rs567233558	missense variant	-	NC_000020.11:g.40688607G>T	1000Genomes,ExAC,gnomAD
MAFB	Q9Y5Q3	p.Leu82Val	rs567233558	missense variant	-	NC_000020.11:g.40688607G>C	1000Genomes,ExAC,gnomAD
MAFB	Q9Y5Q3	p.Asp84Asn	rs1229624790	missense variant	-	NC_000020.11:g.40688601C>T	gnomAD
MAFB	Q9Y5Q3	p.Asp84Glu	rs927754777	missense variant	-	NC_000020.11:g.40688599A>C	TOPMed
MAFB	Q9Y5Q3	p.Leu85Met	rs377639854	missense variant	-	NC_000020.11:g.40688598G>T	1000Genomes,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Leu85Met	rs377639854	missense variant	-	NC_000020.11:g.40688598G>T	NCI-TCGA,NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Leu85Met	RCV000377699	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688598G>T	ClinVar
MAFB	Q9Y5Q3	p.Tyr86His	rs1226236019	missense variant	-	NC_000020.11:g.40688595A>G	TOPMed
MAFB	Q9Y5Q3	p.Ser90Asn	COSM4699847	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688582C>T	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Met95Thr	rs1303771198	missense variant	-	NC_000020.11:g.40688567A>G	TOPMed
MAFB	Q9Y5Q3	p.Asn96Asp	rs1402607458	missense variant	-	NC_000020.11:g.40688565T>C	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Pro97Ser	rs201783302	missense variant	-	NC_000020.11:g.40688562G>A	NCI-TCGA
MAFB	Q9Y5Q3	p.Pro97Ser	rs201783302	missense variant	-	NC_000020.11:g.40688562G>A	1000Genomes,ExAC,gnomAD
MAFB	Q9Y5Q3	p.Glu98Asp	rs374174345	missense variant	-	NC_000020.11:g.40688557C>G	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala99Thr	COSM4098371	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688556C>T	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Ala99Val	COSM4098370	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688555G>A	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Ala107Thr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688532C>T	NCI-TCGA
MAFB	Q9Y5Q3	p.Glu109Lys	COSM3546298	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688526C>T	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Ala110Glu	rs1478496155	missense variant	-	NC_000020.11:g.40688522G>T	gnomAD
MAFB	Q9Y5Q3	p.Gly113Ser	rs769500671	missense variant	-	NC_000020.11:g.40688514C>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ser114Leu	rs780801645	missense variant	-	NC_000020.11:g.40688510G>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ser114Pro	rs150718854	missense variant	-	NC_000020.11:g.40688511A>G	ESP,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.His115Gln	rs779090359	missense variant	-	NC_000020.11:g.40688506G>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Pro116Ala	rs1220720494	missense variant	-	NC_000020.11:g.40688505G>C	gnomAD
MAFB	Q9Y5Q3	p.Val117Met	rs757701275	missense variant	-	NC_000020.11:g.40688502C>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Pro118Ser	rs1269716780	missense variant	-	NC_000020.11:g.40688499G>A	gnomAD
MAFB	Q9Y5Q3	p.Pro118Arg	rs1253881410	missense variant	-	NC_000020.11:g.40688498G>C	TOPMed
MAFB	Q9Y5Q3	p.Pro120Leu	rs764399516	missense variant	-	NC_000020.11:g.40688492G>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Leu121Pro	rs752691658	missense variant	-	NC_000020.11:g.40688489A>G	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Leu121Pro	RCV000263923	missense variant	-	NC_000020.11:g.40688489A>G	ClinVar
MAFB	Q9Y5Q3	p.Ser123Thr	rs767671011	missense variant	-	NC_000020.11:g.40688483C>G	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Asp125Asn	COSM5414225	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688478C>T	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Asp125Gly	rs1454735712	missense variant	-	NC_000020.11:g.40688477T>C	TOPMed
MAFB	Q9Y5Q3	p.Ser126Arg	rs759347042	missense variant	-	NC_000020.11:g.40688475T>G	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ala130Val	rs375150121	missense variant	-	NC_000020.11:g.40688462G>A	ESP,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala130Ser	rs1370644371	missense variant	-	NC_000020.11:g.40688463C>A	gnomAD
MAFB	Q9Y5Q3	p.His131Gln	rs121912307	missense variant	-	NC_000020.11:g.40688458G>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.His132Tyr	rs1326089909	missense variant	-	NC_000020.11:g.40688457G>A	TOPMed
MAFB	Q9Y5Q3	p.His134Arg	rs773047325	missense variant	-	NC_000020.11:g.40688450T>C	ExAC,gnomAD
MAFB	Q9Y5Q3	p.His134Gln	rs769412741	missense variant	-	NC_000020.11:g.40688449G>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.His135Gln	rs371814365	missense variant	-	NC_000020.11:g.40688446A>T	ESP,ExAC,TOPMed
MAFB	Q9Y5Q3	p.His135Tyr	rs1372757434	missense variant	-	NC_000020.11:g.40688448G>A	TOPMed
MAFB	Q9Y5Q3	p.His136Gln	rs775963285	missense variant	-	NC_000020.11:g.40688443G>C	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.His138Tyr	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688439G>A	NCI-TCGA
MAFB	Q9Y5Q3	p.Pro139His	COSM4098367	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688435G>T	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.His140Tyr	rs1267105565	missense variant	-	NC_000020.11:g.40688433G>A	gnomAD
MAFB	Q9Y5Q3	p.Pro141Ala	rs1475429491	missense variant	-	NC_000020.11:g.40688430G>C	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Pro141Ser	rs1475429491	missense variant	-	NC_000020.11:g.40688430G>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala144Ser	rs1309759695	missense variant	-	NC_000020.11:g.40688421C>A	gnomAD
MAFB	Q9Y5Q3	p.Pro146Leu	rs1327781040	missense variant	-	NC_000020.11:g.40688414G>A	gnomAD
MAFB	Q9Y5Q3	p.Pro146Ala	rs1333677488	missense variant	-	NC_000020.11:g.40688415G>C	gnomAD
MAFB	Q9Y5Q3	p.Pro146Leu	rs1327781040	missense variant	-	NC_000020.11:g.40688414G>A	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Gly147Ser	rs749649554	missense variant	-	NC_000020.11:g.40688412C>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Gly147Ter	RCV000235078	frameshift	Duane syndrome type 3	NC_000020.11:g.40688413del	ClinVar
MAFB	Q9Y5Q3	p.Gly147Asp	rs1392297545	missense variant	-	NC_000020.11:g.40688411C>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gly147Ter	RCV000240729	frameshift	Duane syndrome type 1 (DURS1)	NC_000020.11:g.40688413del	ClinVar
MAFB	Q9Y5Q3	p.Ala148Val	rs1192032045	missense variant	-	NC_000020.11:g.40688408G>A	TOPMed
MAFB	Q9Y5Q3	p.Gly149Ala	rs1381311648	missense variant	-	NC_000020.11:g.40688405C>G	gnomAD
MAFB	Q9Y5Q3	p.Gly149Asp	rs1381311648	missense variant	-	NC_000020.11:g.40688405C>T	gnomAD
MAFB	Q9Y5Q3	p.Gly149Arg	rs1424631917	missense variant	-	NC_000020.11:g.40688406C>G	gnomAD
MAFB	Q9Y5Q3	p.Val150Met	rs756368724	missense variant	-	NC_000020.11:g.40688403C>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala151Val	rs1232452672	missense variant	-	NC_000020.11:g.40688399G>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.His152Tyr	rs1199894245	missense variant	-	NC_000020.11:g.40688397G>A	gnomAD
MAFB	Q9Y5Q3	p.Asp153His	rs893483748	missense variant	-	NC_000020.11:g.40688394C>G	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Glu154Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688391C>T	NCI-TCGA
MAFB	Q9Y5Q3	p.Leu155Pro	rs1358722477	missense variant	-	NC_000020.11:g.40688387A>G	gnomAD
MAFB	Q9Y5Q3	p.Pro157Ser	rs1204096115	missense variant	-	NC_000020.11:g.40688382G>A	gnomAD
MAFB	Q9Y5Q3	p.Ala159Val	rs1278548741	missense variant	-	NC_000020.11:g.40688375G>A	gnomAD
MAFB	Q9Y5Q3	p.His163Tyr	rs751653169	missense variant	-	NC_000020.11:g.40688364G>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.His165Arg	COSM3546297	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688357T>C	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.His165Tyr	rs1482038344	missense variant	-	NC_000020.11:g.40688358G>A	gnomAD
MAFB	Q9Y5Q3	p.His166Tyr	rs1361670470	missense variant	-	NC_000020.11:g.40688355G>A	gnomAD
MAFB	Q9Y5Q3	p.Gln168Lys	rs182855658	missense variant	-	NC_000020.11:g.40688349G>T	1000Genomes
MAFB	Q9Y5Q3	p.Pro171Ser	rs766287913	missense variant	-	NC_000020.11:g.40688340G>A	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Pro172Gln	rs1173358592	missense variant	-	NC_000020.11:g.40688336G>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Pro172Leu	rs1173358592	missense variant	-	NC_000020.11:g.40688336G>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Pro173Leu	rs1335120742	missense variant	-	NC_000020.11:g.40688333G>A	TOPMed
MAFB	Q9Y5Q3	p.Ser175Gly	rs1266854578	missense variant	-	NC_000020.11:g.40688328T>C	gnomAD
MAFB	Q9Y5Q3	p.Ser175Arg	rs886056674	missense variant	-	NC_000020.11:g.40688326G>C	-
MAFB	Q9Y5Q3	p.Ser175Arg	RCV000262870	missense variant	Multicentric osteolysis nephropathy (MCTO)	NC_000020.11:g.40688326G>C	ClinVar
MAFB	Q9Y5Q3	p.Ala176Pro	rs750186410	missense variant	-	NC_000020.11:g.40688325C>G	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala176Thr	rs750186410	missense variant	-	NC_000020.11:g.40688325C>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala176GlyPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.40688314_40688324CGGGCTAGCGG>-	NCI-TCGA
MAFB	Q9Y5Q3	p.Ala177Val	rs1217902710	missense variant	-	NC_000020.11:g.40688321G>A	gnomAD
MAFB	Q9Y5Q3	p.Ala177Ser	rs765047573	missense variant	-	NC_000020.11:g.40688322C>A	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala177Thr	rs765047573	missense variant	-	NC_000020.11:g.40688322C>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ser178Arg	rs761323005	missense variant	-	NC_000020.11:g.40688317G>C	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Pro179Arg	rs1212045912	missense variant	-	NC_000020.11:g.40688315G>C	TOPMed
MAFB	Q9Y5Q3	p.Ala180Glu	rs935109003	missense variant	-	NC_000020.11:g.40688312G>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gln181Leu	rs776350709	missense variant	-	NC_000020.11:g.40688309T>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Pro184His	rs1197963981	missense variant	-	NC_000020.11:g.40688300G>T	TOPMed
MAFB	Q9Y5Q3	p.Pro184Ala	rs768260907	missense variant	-	NC_000020.11:g.40688301G>C	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ser186Arg	rs1344941021	missense variant	-	NC_000020.11:g.40688293G>T	gnomAD
MAFB	Q9Y5Q3	p.His187Gln	rs760220738	missense variant	-	NC_000020.11:g.40688290G>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Gly189Arg	rs1416365415	missense variant	-	NC_000020.11:g.40688286C>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gly189Trp	rs1416365415	missense variant	-	NC_000020.11:g.40688286C>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gly189Val	rs775190671	missense variant	-	NC_000020.11:g.40688285C>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Gly191Arg	rs1030763945	missense variant	-	NC_000020.11:g.40688280C>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Pro192Arg	rs1003682274	missense variant	-	NC_000020.11:g.40688276G>C	TOPMed
MAFB	Q9Y5Q3	p.Pro192Thr	rs1419380581	missense variant	-	NC_000020.11:g.40688277G>T	TOPMed
MAFB	Q9Y5Q3	p.His193Gln	rs563409960	missense variant	-	NC_000020.11:g.40688272G>C	1000Genomes,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.His193Gln	rs563409960	missense variant	-	NC_000020.11:g.40688272G>T	1000Genomes,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.His193Tyr	rs771536349	missense variant	-	NC_000020.11:g.40688274G>A	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala194Gly	rs1295117737	missense variant	-	NC_000020.11:g.40688270G>C	TOPMed
MAFB	Q9Y5Q3	p.Ala194Thr	rs1484891390	missense variant	-	NC_000020.11:g.40688271C>T	gnomAD
MAFB	Q9Y5Q3	p.Thr195Lys	rs778237314	missense variant	-	NC_000020.11:g.40688267G>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ala196Thr	rs1462492060	missense variant	-	NC_000020.11:g.40688265C>T	gnomAD
MAFB	Q9Y5Q3	p.Ser197Leu	rs1317976569	missense variant	-	NC_000020.11:g.40688261G>A	gnomAD
MAFB	Q9Y5Q3	p.Ser197Thr	rs770211627	missense variant	-	NC_000020.11:g.40688262A>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ala198Glu	rs1213315846	missense variant	-	NC_000020.11:g.40688258G>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala198Val	rs1213315846	missense variant	-	NC_000020.11:g.40688258G>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Thr199Lys	rs1361934078	missense variant	-	NC_000020.11:g.40688255G>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Thr199Met	rs1361934078	missense variant	-	NC_000020.11:g.40688255G>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala200Thr	rs1450550174	missense variant	-	NC_000020.11:g.40688253C>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala201Glu	rs947866370	missense variant	-	NC_000020.11:g.40688249G>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gly202Ala	rs1402543229	missense variant	-	NC_000020.11:g.40688246C>G	gnomAD
MAFB	Q9Y5Q3	p.Gly203Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688244C>A	NCI-TCGA
MAFB	Q9Y5Q3	p.Gly205Cys	rs747066288	missense variant	-	NC_000020.11:g.40688238C>A	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gly205Ser	rs747066288	missense variant	-	NC_000020.11:g.40688238C>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ser206Ile	rs909242045	missense variant	-	NC_000020.11:g.40688234C>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ser206Arg	rs758291175	missense variant	-	NC_000020.11:g.40688233G>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ser206Asn	rs909242045	missense variant	-	NC_000020.11:g.40688234C>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Val207Met	rs1241099642	missense variant	-	NC_000020.11:g.40688232C>T	gnomAD
MAFB	Q9Y5Q3	p.Asp209Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688225T>C	NCI-TCGA
MAFB	Q9Y5Q3	p.Arg210Leu	RCV000722273	missense variant	-	NC_000020.11:g.40688222C>A	ClinVar
MAFB	Q9Y5Q3	p.Arg210Cys	rs750382415	missense variant	-	NC_000020.11:g.40688223G>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Arg210Ser	rs750382415	missense variant	-	NC_000020.11:g.40688223G>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ser212Phe	rs1484365696	missense variant	-	NC_000020.11:g.40688216G>A	TOPMed
MAFB	Q9Y5Q3	p.Asp213Glu	rs17853698	missense variant	-	NC_000020.11:g.40688212G>C	1000Genomes,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Asp214Tyr	rs757070308	missense variant	-	NC_000020.11:g.40688211C>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Gln215Ter	RCV000240779	frameshift	Duane syndrome type 1 (DURS1)	NC_000020.11:g.40688207del	ClinVar
MAFB	Q9Y5Q3	p.Gln215Ter	RCV000235047	frameshift	Duane syndrome type 3	NC_000020.11:g.40688207del	ClinVar
MAFB	Q9Y5Q3	p.Val217Leu	rs1248829039	missense variant	-	NC_000020.11:g.40688202C>A	gnomAD
MAFB	Q9Y5Q3	p.Ser218Pro	rs1314841503	missense variant	-	NC_000020.11:g.40688199A>G	gnomAD
MAFB	Q9Y5Q3	p.Met219Ile	rs1447779158	missense variant	-	NC_000020.11:g.40688194C>T	gnomAD
MAFB	Q9Y5Q3	p.Val221Glu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688189A>T	NCI-TCGA
MAFB	Q9Y5Q3	p.Val221Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688190C>T	NCI-TCGA
MAFB	Q9Y5Q3	p.Arg222Ser	rs1296674214	missense variant	-	NC_000020.11:g.40688187G>T	gnomAD
MAFB	Q9Y5Q3	p.Arg226His	rs1165363563	missense variant	-	NC_000020.11:g.40688174C>T	gnomAD
MAFB	Q9Y5Q3	p.Gly230Cys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688163C>A	NCI-TCGA
MAFB	Q9Y5Q3	p.Thr232Ser	rs1162762636	missense variant	-	NC_000020.11:g.40688156G>C	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Lys233Met	rs1231675086	missense variant	-	NC_000020.11:g.40688153T>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Lys233Thr	rs1231675086	missense variant	-	NC_000020.11:g.40688153T>G	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Asp234Gly	rs1440096426	missense variant	-	NC_000020.11:g.40688150T>C	gnomAD
MAFB	Q9Y5Q3	p.Glu235Lys	COSM5984187	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40688148C>T	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Arg238His	rs1479999211	missense variant	-	NC_000020.11:g.40688138C>T	gnomAD
MAFB	Q9Y5Q3	p.Arg243Pro	rs1373595734	missense variant	-	NC_000020.11:g.40688123C>G	TOPMed
MAFB	Q9Y5Q3	p.Arg244Leu	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688120C>A	NCI-TCGA
MAFB	Q9Y5Q3	p.Asn248Lys	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688107G>C	NCI-TCGA
MAFB	Q9Y5Q3	p.Cys255Trp	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688086G>C	NCI-TCGA
MAFB	Q9Y5Q3	p.Val260Phe	rs773855888	missense variant	-	NC_000020.11:g.40688073C>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.His265Tyr	rs1368352854	missense variant	-	NC_000020.11:g.40688058G>A	gnomAD
MAFB	Q9Y5Q3	p.Asn268Ter	RCV000235061	frameshift	Duane retraction syndrome 3 with or without deafness (DURS3)	NC_000020.11:g.40688049del	ClinVar
MAFB	Q9Y5Q3	p.Asn268Ter	RCV000240679	frameshift	Duane syndrome type 1 (DURS1)	NC_000020.11:g.40688049del	ClinVar
MAFB	Q9Y5Q3	p.Glu269Gly	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688045T>C	NCI-TCGA
MAFB	Q9Y5Q3	p.Thr271Met	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688039G>A	NCI-TCGA
MAFB	Q9Y5Q3	p.Glu278Gln	rs776911414	missense variant	-	NC_000020.11:g.40688019C>G	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Leu280Arg	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40688012A>C	NCI-TCGA
MAFB	Q9Y5Q3	p.Glu283Gln	rs768894136	missense variant	-	NC_000020.11:g.40688004C>G	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Val284Met	rs1420045448	missense variant	-	NC_000020.11:g.40688001C>T	gnomAD
MAFB	Q9Y5Q3	p.Ser285Phe	rs747264525	missense variant	-	NC_000020.11:g.40687997G>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Arg286Gln	rs780061320	missense variant	-	NC_000020.11:g.40687994C>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Arg286Gly	rs1235484198	missense variant	-	NC_000020.11:g.40687995G>C	TOPMed
MAFB	Q9Y5Q3	p.Ala288Val	rs746015339	missense variant	-	NC_000020.11:g.40687988G>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Arg289Gly	rs753635691	missense variant	-	NC_000020.11:g.40687986G>C	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Arg289Ser	rs753635691	missense variant	-	NC_000020.11:g.40687986G>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Arg289Cys	rs753635691	missense variant	-	NC_000020.11:g.40687986G>A	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Arg289His	rs538540900	missense variant	-	NC_000020.11:g.40687985C>T	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Arg289Leu	rs538540900	missense variant	-	NC_000020.11:g.40687985C>A	TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala293Val	rs374696286	missense variant	-	NC_000020.11:g.40687973G>A	ESP,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala293Thr	rs763823662	missense variant	-	NC_000020.11:g.40687974C>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Lys295GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000020.11:g.40687968_40687969insG	NCI-TCGA
MAFB	Q9Y5Q3	p.Val296Ile	rs200660283	missense variant	-	NC_000020.11:g.40687965C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Cys298Tyr	rs1313055343	missense variant	-	NC_000020.11:g.40687958C>T	gnomAD
MAFB	Q9Y5Q3	p.Glu299Gly	COSM4098366	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40687955T>C	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Glu299Gln	rs774066103	missense variant	-	NC_000020.11:g.40687956C>G	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Glu299Asp	rs765756336	missense variant	-	NC_000020.11:g.40687954C>G	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Lys300Asn	rs1302420185	missense variant	-	NC_000020.11:g.40687951T>A	gnomAD
MAFB	Q9Y5Q3	p.Ala302Asp	rs201243960	missense variant	-	NC_000020.11:g.40687946G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala302Gly	rs201243960	missense variant	-	NC_000020.11:g.40687946G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ala302Val	rs201243960	missense variant	-	NC_000020.11:g.40687946G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Asn303Asp	rs777016460	missense variant	-	NC_000020.11:g.40687944T>C	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Asn303Tyr	rs777016460	missense variant	-	NC_000020.11:g.40687944T>A	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ser304Phe	COSM1307390	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.40687940G>A	NCI-TCGA Cosmic
MAFB	Q9Y5Q3	p.Ser304Cys	rs374680666	missense variant	-	NC_000020.11:g.40687940G>C	ESP,TOPMed
MAFB	Q9Y5Q3	p.Ser304Ala	rs768925372	missense variant	-	NC_000020.11:g.40687941A>C	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gly305Asp	rs747176764	missense variant	-	NC_000020.11:g.40687937C>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gly305Ala	rs747176764	missense variant	-	NC_000020.11:g.40687937C>G	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Arg307Thr	rs1345851468	missense variant	-	NC_000020.11:g.40687931C>G	TOPMed
MAFB	Q9Y5Q3	p.Ala309Val	rs1178178066	missense variant	-	NC_000020.11:g.40687925G>A	gnomAD
MAFB	Q9Y5Q3	p.Gly310Ala	rs1194989294	missense variant	-	NC_000020.11:g.40687922C>G	gnomAD
MAFB	Q9Y5Q3	p.Gly310Ser	rs772338159	missense variant	-	NC_000020.11:g.40687923C>T	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Gly310Arg	rs772338159	missense variant	-	NC_000020.11:g.40687923C>G	ExAC,TOPMed,gnomAD
MAFB	Q9Y5Q3	p.Ser311Tyr	rs1287265816	missense variant	-	NC_000020.11:g.40687919G>T	TOPMed
MAFB	Q9Y5Q3	p.Ser313Asn	rs745924706	missense variant	-	NC_000020.11:g.40687913C>T	ExAC,gnomAD
MAFB	Q9Y5Q3	p.Ser313Cys	rs1260063911	missense variant	-	NC_000020.11:g.40687914T>A	gnomAD
MAFB	Q9Y5Q3	p.Ser315Ile	rs1442036965	missense variant	-	NC_000020.11:g.40687907C>A	TOPMed
MAFB	Q9Y5Q3	p.Pro316Ser	rs1483788153	missense variant	-	NC_000020.11:g.40687905G>A	gnomAD
MAFB	Q9Y5Q3	p.Ser317Thr	rs767867839	missense variant	-	NC_000020.11:g.40687902A>T	gnomAD
MAFB	Q9Y5Q3	p.Pro319Ala	NCI-TCGA novel	missense variant	-	NC_000020.11:g.40687896G>C	NCI-TCGA
MAFB	Q9Y5Q3	p.Glu320Asp	rs1181209627	missense variant	-	NC_000020.11:g.40687891C>G	gnomAD
MAFB	Q9Y5Q3	p.Phe321Leu	rs1369327527	missense variant	-	NC_000020.11:g.40687888G>T	TOPMed
MAFB	Q9Y5Q3	p.Phe322Leu	rs770859455	missense variant	-	NC_000020.11:g.40687887A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2Leu	rs200569241	missense variant	-	NC_000012.12:g.124495247G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly3Glu	rs762333827	missense variant	-	NC_000012.12:g.124495244C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser4Pro	rs1208945179	missense variant	-	NC_000012.12:g.124495242A>G	TOPMed
NCOR2	Q9Y618	p.Thr5Ile	rs775831112	missense variant	-	NC_000012.12:g.124495238G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr5Ala	rs763323535	missense variant	-	NC_000012.12:g.124495239T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro7Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124495232G>A	NCI-TCGA
NCOR2	Q9Y618	p.Thr11Lys	rs373302441	missense variant	-	NC_000012.12:g.124495220G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr11Met	rs373302441	missense variant	-	NC_000012.12:g.124495220G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Trp12Leu	rs1304761033	missense variant	-	NC_000012.12:g.124495217C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala14Val	rs777329543	missense variant	-	NC_000012.12:g.124495211G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr15Ile	rs374998878	missense variant	-	NC_000012.12:g.124495208G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu16Lys	rs1467629709	missense variant	-	NC_000012.12:g.124495206C>T	gnomAD
NCOR2	Q9Y618	p.Glu16Gly	rs747850930	missense variant	-	NC_000012.12:g.124495205T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro17Leu	rs754623421	missense variant	-	NC_000012.12:g.124495202G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro17Ser	rs199718897	missense variant	-	NC_000012.12:g.124495203G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg18His	rs561460980	missense variant	-	NC_000012.12:g.124495199C>T	1000Genomes,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg18Cys	rs369571536	missense variant	-	NC_000012.12:g.124495200G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr19Phe	rs781563222	missense variant	-	NC_000012.12:g.124495196T>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro20Leu	rs757710006	missense variant	-	NC_000012.12:g.124495193G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro20Ser	rs1171302955	missense variant	-	NC_000012.12:g.124495194G>A	TOPMed
NCOR2	Q9Y618	p.His22Gln	rs1318524788	missense variant	-	NC_000012.12:g.124495186G>T	gnomAD
NCOR2	Q9Y618	p.Ser23Thr	rs1250636824	missense variant	-	NC_000012.12:g.124495184C>G	gnomAD
NCOR2	Q9Y618	p.Leu24Phe	rs764315767	missense variant	-	NC_000012.12:g.124495182G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser25Cys	rs1315158078	missense variant	-	NC_000012.12:g.124495178G>C	gnomAD
NCOR2	Q9Y618	p.Pro27Thr	rs1382579427	missense variant	-	NC_000012.12:g.124495173G>T	gnomAD
NCOR2	Q9Y618	p.Ile30Val	rs752783314	missense variant	-	NC_000012.12:g.124495164T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala31Thr	rs373785990	missense variant	-	NC_000012.12:g.124495161C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala31Ser	rs373785990	missense variant	-	NC_000012.12:g.124495161C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg32Gly	rs1460050325	missense variant	-	NC_000012.12:g.124495158G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg32Trp	rs1460050325	missense variant	-	NC_000012.12:g.124495158G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr33Met	rs371730972	missense variant	-	NC_000012.12:g.124495154G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr35Met	rs762430257	missense variant	-	NC_000012.12:g.124495148G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val37Ile	rs747399088	missense variant	-	NC_000012.12:g.124486565C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Val37Ala	rs111807999	missense variant	-	NC_000012.12:g.124486564A>G	gnomAD
NCOR2	Q9Y618	p.Val37Phe	rs747399088	missense variant	-	NC_000012.12:g.124486565C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly38Trp	rs577336820	missense variant	-	NC_000012.12:g.124486562C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly38Arg	rs577336820	missense variant	-	NC_000012.12:g.124486562C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu39Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124486558A>C	NCI-TCGA
NCOR2	Q9Y618	p.Leu40Pro	rs1246473977	missense variant	-	NC_000012.12:g.124486555A>G	gnomAD
NCOR2	Q9Y618	p.Ser46Phe	rs1266832580	missense variant	-	NC_000012.12:g.124486537G>A	gnomAD
NCOR2	Q9Y618	p.Arg47Leu	rs756284508	missense variant	-	NC_000012.12:g.124486534C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg47Gly	rs766657678	missense variant	-	NC_000012.12:g.124486535G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg47Cys	rs766657678	missense variant	-	NC_000012.12:g.124486535G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg47His	rs756284508	missense variant	-	NC_000012.12:g.124486534C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp48Asn	rs761058810	missense variant	-	NC_000012.12:g.124486532C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr49Cys	rs1264353674	missense variant	-	NC_000012.12:g.124486528T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.His52Arg	rs114258960	missense variant	-	NC_000012.12:g.124486519T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His52Tyr	rs924837078	missense variant	-	NC_000012.12:g.124486520G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser54Leu	rs965643637	missense variant	-	NC_000012.12:g.124486513G>A	TOPMed
NCOR2	Q9Y618	p.Gly56Arg	rs763550166	missense variant	-	NC_000012.12:g.124486508C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly56Ser	rs763550166	missense variant	-	NC_000012.12:g.124486508C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser57Phe	rs866644641	missense variant	-	NC_000012.12:g.124486504G>A	gnomAD
NCOR2	Q9Y618	p.Ser57Ala	rs1406504059	missense variant	-	NC_000012.12:g.124486505A>C	gnomAD
NCOR2	Q9Y618	p.Ile58Val	rs1427366386	missense variant	-	NC_000012.12:g.124486502T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile58Asn	rs762554549	missense variant	-	NC_000012.12:g.124486501A>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile59Met	rs372528448	missense variant	-	NC_000012.12:g.124486497G>C	ESP,gnomAD
NCOR2	Q9Y618	p.Gln60Pro	rs201755012	missense variant	-	NC_000012.12:g.124486495T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg63Gln	rs1264128606	missense variant	-	NC_000012.12:g.124486486C>T	gnomAD
NCOR2	Q9Y618	p.Arg64Trp	rs1425936508	missense variant	-	NC_000012.12:g.124486484G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg64Gln	rs897767141	missense variant	-	NC_000012.12:g.124486483C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg65Lys	rs745442376	missense variant	-	NC_000012.12:g.124486480C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro66Leu	rs773776074	missense variant	-	NC_000012.12:g.124486477G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser67Thr	rs1472611057	missense variant	-	NC_000012.12:g.124486475A>T	gnomAD
NCOR2	Q9Y618	p.Pro74Leu	rs1383325118	missense variant	-	NC_000012.12:g.124486453G>A	gnomAD
NCOR2	Q9Y618	p.Gly75Arg	rs755402351	missense variant	-	NC_000012.12:g.124486451C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly75Arg	rs755402351	missense variant	-	NC_000012.12:g.124486451C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu77Ala	COSM936761	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124486444T>G	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg78Trp	rs1402406017	missense variant	-	NC_000012.12:g.124486442G>A	gnomAD
NCOR2	Q9Y618	p.Gln80Arg	rs749690893	missense variant	-	NC_000012.12:g.124483768T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Gln80Pro	rs749690893	missense variant	-	NC_000012.12:g.124483768T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu81Lys	rs780179306	missense variant	-	NC_000012.12:g.124483766C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu82Phe	rs769854774	missense variant	-	NC_000012.12:g.124483763G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.His83Tyr	rs908046844	missense variant	-	NC_000012.12:g.124483760G>A	TOPMed
NCOR2	Q9Y618	p.Arg85Trp	rs149366660	missense variant	-	NC_000012.12:g.124483754G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg85Gln	rs781420966	missense variant	-	NC_000012.12:g.124483753C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro86Ser	rs200140245	missense variant	-	NC_000012.12:g.124483751G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His89Tyr	rs751379995	missense variant	-	NC_000012.12:g.124483742G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser90Ter	COSM1299097	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124483738G>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Leu92Gln	rs896568062	missense variant	-	NC_000012.12:g.124483732A>T	TOPMed
NCOR2	Q9Y618	p.Glu94Gln	rs758428234	missense variant	-	NC_000012.12:g.124483727C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu94Lys	rs758428234	missense variant	-	NC_000012.12:g.124483727C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu95Val	rs764887804	missense variant	-	NC_000012.12:g.124483724G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly96Val	rs766153237	missense variant	-	NC_000012.12:g.124483720C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly96Trp	rs376765933	missense variant	-	NC_000012.12:g.124483721C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly96Arg	rs376765933	missense variant	-	NC_000012.12:g.124483721C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly96Glu	rs766153237	missense variant	-	NC_000012.12:g.124483720C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys97Thr	COSM1359941	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124483717T>G	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ile103Thr	rs1196929193	missense variant	-	NC_000012.12:g.124483699A>G	gnomAD
NCOR2	Q9Y618	p.Ile103Val	rs865782027	missense variant	-	NC_000012.12:g.124483700T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser105Gly	rs183845640	missense variant	-	NC_000012.12:g.124483694T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser105Asn	rs201210769	missense variant	-	NC_000012.12:g.124483693C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg107Ser	rs986750179	missense variant	-	NC_000012.12:g.124483688G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg107Cys	rs986750179	missense variant	-	NC_000012.12:g.124483688G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg107Pro	rs1372001604	missense variant	-	NC_000012.12:g.124483687C>G	TOPMed
NCOR2	Q9Y618	p.Arg107His	rs1372001604	missense variant	-	NC_000012.12:g.124483687C>T	TOPMed
NCOR2	Q9Y618	p.Glu111Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.124483676C>A	NCI-TCGA
NCOR2	Q9Y618	p.Leu112Val	rs544682654	missense variant	-	NC_000012.12:g.124483673G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro114Leu	rs1282716507	missense variant	-	NC_000012.12:g.124483666G>A	gnomAD
NCOR2	Q9Y618	p.Pro116Thr	rs781188511	missense variant	-	NC_000012.12:g.124483661G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro116Ser	rs781188511	missense variant	-	NC_000012.12:g.124483661G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro116Ala	rs781188511	missense variant	-	NC_000012.12:g.124483661G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg119Gln	rs1237994045	missense variant	-	NC_000012.12:g.124483651C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro120Arg	rs569394523	missense variant	-	NC_000012.12:g.124483648G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro120Leu	rs569394523	missense variant	-	NC_000012.12:g.124483648G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser121Leu	rs1386886117	missense variant	-	NC_000012.12:g.124483645G>A	gnomAD
NCOR2	Q9Y618	p.Pro122Ser	rs1211294271	missense variant	-	NC_000012.12:g.124483643G>A	TOPMed
NCOR2	Q9Y618	p.Ala125Thr	rs779023919	missense variant	-	NC_000012.12:g.124483634C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr126Met	rs372180570	missense variant	-	NC_000012.12:g.124483630G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr126Lys	rs372180570	missense variant	-	NC_000012.12:g.124483630G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly127Arg	rs753414112	missense variant	-	NC_000012.12:g.124483628C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly127Asp	rs1244732336	missense variant	-	NC_000012.12:g.124483627C>T	gnomAD
NCOR2	Q9Y618	p.Ala130Gly	rs368362328	missense variant	-	NC_000012.12:g.124483618G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala130Val	rs368362328	missense variant	-	NC_000012.12:g.124483618G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly131Val	rs1231185993	missense variant	-	NC_000012.12:g.124483615C>A	gnomAD
NCOR2	Q9Y618	p.Gly131Arg	rs1261110432	missense variant	-	NC_000012.12:g.124483616C>T	gnomAD
NCOR2	Q9Y618	p.Glu133Lys	rs763199893	missense variant	-	NC_000012.12:g.124483610C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu133Asp	rs1395262641	missense variant	-	NC_000012.12:g.124483608T>G	TOPMed
NCOR2	Q9Y618	p.Asp134Asn	rs1296626232	missense variant	-	NC_000012.12:g.124483607C>T	gnomAD
NCOR2	Q9Y618	p.Leu135Phe	rs775794647	missense variant	-	NC_000012.12:g.124483604G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp138Tyr	COSM5163763	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124473131C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asp138Asn	rs1195324444	missense variant	-	NC_000012.12:g.124473131C>T	gnomAD
NCOR2	Q9Y618	p.Arg139Cys	rs760699130	missense variant	-	NC_000012.12:g.124473128G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr142Met	rs370453736	missense variant	-	NC_000012.12:g.124473118G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly143Asp	rs1469580545	missense variant	-	NC_000012.12:g.124473115C>T	TOPMed
NCOR2	Q9Y618	p.Leu145Val	rs1175211448	missense variant	-	NC_000012.12:g.124473110G>C	TOPMed
NCOR2	Q9Y618	p.Leu145Arg	rs370010899	missense variant	-	NC_000012.12:g.124473109A>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu146Lys	rs1336883854	missense variant	-	NC_000012.12:g.124473107C>T	gnomAD
NCOR2	Q9Y618	p.Glu146Gln	rs1336883854	missense variant	-	NC_000012.12:g.124473107C>G	gnomAD
NCOR2	Q9Y618	p.Pro147Ser	rs749292036	missense variant	-	NC_000012.12:g.124473104G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro147Leu	rs200539242	missense variant	-	NC_000012.12:g.124473103G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val148Leu	rs745394403	missense variant	-	NC_000012.12:g.124473101C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val148Leu	rs745394403	missense variant	-	NC_000012.12:g.124473101C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser149Cys	rs1423604689	missense variant	-	NC_000012.12:g.124473097G>C	gnomAD
NCOR2	Q9Y618	p.Pro150SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124473095_124473096insA	NCI-TCGA
NCOR2	Q9Y618	p.Pro150Ala	rs780684804	missense variant	-	NC_000012.12:g.124473095G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro150Ser	rs780684804	missense variant	-	NC_000012.12:g.124473095G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser152Ile	rs1363189329	missense variant	-	NC_000012.12:g.124473088C>A	gnomAD
NCOR2	Q9Y618	p.Ser152AlaPheSerTerUnkUnk	COSM5128165	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124473090G>-	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro153Ser	rs755303590	missense variant	-	NC_000012.12:g.124473086G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro153Thr	rs755303590	missense variant	-	NC_000012.12:g.124473086G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro153Arg	rs372814794	missense variant	-	NC_000012.12:g.124473085G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro153Leu	rs372814794	missense variant	-	NC_000012.12:g.124473085G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro154Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124473083G>T	NCI-TCGA
NCOR2	Q9Y618	p.Pro154Gln	rs369337188	missense variant	-	NC_000012.12:g.124473082G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro154Leu	rs369337188	missense variant	-	NC_000012.12:g.124473082G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His155Asn	rs1000023697	missense variant	-	NC_000012.12:g.124473080G>T	TOPMed
NCOR2	Q9Y618	p.Asp157Gly	rs1220400844	missense variant	-	NC_000012.12:g.124473073T>C	TOPMed
NCOR2	Q9Y618	p.Glu159Val	rs1490248866	missense variant	-	NC_000012.12:g.124473067T>A	gnomAD
NCOR2	Q9Y618	p.Glu159Gln	rs1437097444	missense variant	-	NC_000012.12:g.124473068C>G	TOPMed
NCOR2	Q9Y618	p.Glu161Asp	rs767701462	missense variant	-	NC_000012.12:g.124473060C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro164Leu	rs748959229	missense variant	-	NC_000012.12:g.124473052G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro164Ser	rs1483248593	missense variant	-	NC_000012.12:g.124473053G>A	TOPMed
NCOR2	Q9Y618	p.Arg166Trp	rs768616938	missense variant	-	NC_000012.12:g.124473047G>A	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg166Gln	rs762874996	missense variant	-	NC_000012.12:g.124473046C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg166Trp	rs768616938	missense variant	-	NC_000012.12:g.124473047G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu167Pro	rs769620607	missense variant	-	NC_000012.12:g.124473043A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser168Ala	rs1329022685	missense variant	-	NC_000012.12:g.124473041A>C	gnomAD
NCOR2	Q9Y618	p.Ile173Val	rs780620993	missense variant	-	NC_000012.12:g.124473026T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asn175Ser	rs200310339	missense variant	-	NC_000012.12:g.124473019T>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg178Cys	rs1470912499	missense variant	-	NC_000012.12:g.124473011G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg178His	rs369807577	missense variant	-	NC_000012.12:g.124473010C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg178His	rs369807577	missense variant	-	NC_000012.12:g.124473010C>T	NCI-TCGA
NCOR2	Q9Y618	p.Val179Met	rs369121940	missense variant	-	NC_000012.12:g.124473008C>T	gnomAD
NCOR2	Q9Y618	p.Asp180Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124473005C>T	NCI-TCGA
NCOR2	Q9Y618	p.Arg181Gln	rs1245228716	missense variant	-	NC_000012.12:g.124473001C>T	gnomAD
NCOR2	Q9Y618	p.Arg181Gln	rs1245228716	missense variant	-	NC_000012.12:g.124473001C>T	NCI-TCGA
NCOR2	Q9Y618	p.Glu182Gln	rs1343186928	missense variant	-	NC_000012.12:g.124472999C>G	TOPMed
NCOR2	Q9Y618	p.Val186Leu	rs754166329	missense variant	-	NC_000012.12:g.124472987C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Val186Ile	rs754166329	missense variant	-	NC_000012.12:g.124472987C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile190Val	rs756647686	missense variant	-	NC_000012.12:g.124472975T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys192Ter	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124472969_124472970insA	NCI-TCGA
NCOR2	Q9Y618	p.Lys192Asn	rs181340852	missense variant	-	NC_000012.12:g.124472967C>G	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Lys196Gln	rs1275148604	missense variant	-	NC_000012.12:g.124472957T>G	TOPMed
NCOR2	Q9Y618	p.Gln197Glu	rs1264246876	missense variant	-	NC_000012.12:g.124472954G>C	gnomAD
NCOR2	Q9Y618	p.Glu202Lys	rs1472097378	missense variant	-	NC_000012.12:g.124466274C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu203Gly	rs1161801886	missense variant	-	NC_000012.12:g.124466270T>C	TOPMed
NCOR2	Q9Y618	p.Ala205Thr	rs1204628593	missense variant	-	NC_000012.12:g.124466265C>T	gnomAD
NCOR2	Q9Y618	p.Ala205Val	rs1360133266	missense variant	-	NC_000012.12:g.124466264G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro207Leu	rs776360455	missense variant	-	NC_000012.12:g.124466258G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro207Leu	rs776360455	missense variant	-	NC_000012.12:g.124466258G>A	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro207Ser	rs1457407707	missense variant	-	NC_000012.12:g.124466259G>A	TOPMed
NCOR2	Q9Y618	p.Pro208Leu	rs1288872099	missense variant	-	NC_000012.12:g.124466255G>A	gnomAD
NCOR2	Q9Y618	p.Pro210Ser	rs1284319754	missense variant	-	NC_000012.12:g.124466250G>A	TOPMed
NCOR2	Q9Y618	p.Lys212Arg	rs747804626	missense variant	-	NC_000012.12:g.124466243T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro213Ser	rs1443072498	missense variant	-	NC_000012.12:g.124466241G>A	gnomAD
NCOR2	Q9Y618	p.Val214Met	rs746271002	missense variant	-	NC_000012.12:g.124466238C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Val214Leu	rs746271002	missense variant	-	NC_000012.12:g.124466238C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro216Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124466232G>A	NCI-TCGA
NCOR2	Q9Y618	p.Pro216Leu	rs781644064	missense variant	-	NC_000012.12:g.124466231G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro217Leu	rs199588853	missense variant	-	NC_000012.12:g.124466228G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile219Val	rs752679309	missense variant	-	NC_000012.12:g.124466223T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile219Phe	rs752679309	missense variant	-	NC_000012.12:g.124466223T>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu220Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124466220C>T	NCI-TCGA
NCOR2	Q9Y618	p.Ser221Leu	rs1248969966	missense variant	-	NC_000012.12:g.124466216G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg224Cys	rs371138100	missense variant	-	NC_000012.12:g.124466208G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg224Leu	rs760665839	missense variant	-	NC_000012.12:g.124466207C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg224Ser	rs371138100	missense variant	-	NC_000012.12:g.124466208G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg224His	rs760665839	missense variant	-	NC_000012.12:g.124466207C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg224His	rs760665839	missense variant	-	NC_000012.12:g.124466207C>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Leu226Met	rs1171252497	missense variant	-	NC_000012.12:g.124466202G>T	TOPMed
NCOR2	Q9Y618	p.Ile229Met	rs991784498	missense variant	-	NC_000012.12:g.124466191G>C	TOPMed
NCOR2	Q9Y618	p.Asp232Glu	COSM6135973	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124466182G>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu233Val	rs1309785791	missense variant	-	NC_000012.12:g.124466180T>A	TOPMed
NCOR2	Q9Y618	p.Glu233Lys	rs768370735	missense variant	-	NC_000012.12:g.124466181C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg235Gln	rs1293115131	missense variant	-	NC_000012.12:g.124466174C>T	gnomAD
NCOR2	Q9Y618	p.Arg235Trp	rs1368596690	missense variant	-	NC_000012.12:g.124466175G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.His242Arg	rs768701590	missense variant	-	NC_000012.12:g.124457143T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg243Gln	rs754316117	missense variant	-	NC_000012.12:g.124457140C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly249Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124457122C>A	NCI-TCGA
NCOR2	Q9Y618	p.Gln251ArgPheSerTerUnkUnk	COSM1359937	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124457117G>-	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro255Leu	rs1181469280	missense variant	-	NC_000012.12:g.124449866G>A	gnomAD
NCOR2	Q9Y618	p.Pro260Leu	rs1382631641	missense variant	-	NC_000012.12:g.124449851G>A	TOPMed
NCOR2	Q9Y618	p.Ser261Phe	COSM3457845	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124449848G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ser261Cys	rs373082582	missense variant	-	NC_000012.12:g.124449848G>C	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Asp262Asn	rs1356048366	missense variant	-	NC_000012.12:g.124449846C>T	NCI-TCGA
NCOR2	Q9Y618	p.Asp262Asn	rs1356048366	missense variant	-	NC_000012.12:g.124449846C>T	gnomAD
NCOR2	Q9Y618	p.Thr263Ala	rs1235156046	missense variant	-	NC_000012.12:g.124449843T>C	TOPMed
NCOR2	Q9Y618	p.Arg264Trp	rs369186073	missense variant	-	NC_000012.12:g.124449840G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg264Gln	rs769854849	missense variant	-	NC_000012.12:g.124449839C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln265His	COSM6135975	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124449835C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asn269Asp	rs1263074157	missense variant	-	NC_000012.12:g.124449825T>C	TOPMed
NCOR2	Q9Y618	p.Ile270Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124449820G>C	NCI-TCGA
NCOR2	Q9Y618	p.Ala275Val	rs1457280740	missense variant	-	NC_000012.12:g.124437988G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Met276Thr	rs753005802	missense variant	-	NC_000012.12:g.124437985A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg277Gln	rs959185861	missense variant	-	NC_000012.12:g.124437982C>T	gnomAD
NCOR2	Q9Y618	p.Arg277Gln	rs959185861	missense variant	-	NC_000012.12:g.124437982C>T	NCI-TCGA
NCOR2	Q9Y618	p.Lys278Gln	rs1364163584	missense variant	-	NC_000012.12:g.124437980T>G	gnomAD
NCOR2	Q9Y618	p.Arg287Lys	rs760018486	missense variant	-	NC_000012.12:g.124437952C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala290Thr	rs200885078	missense variant	-	NC_000012.12:g.124437944C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Trp294Cys	rs761722450	missense variant	-	NC_000012.12:g.124437930C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Trp294Arg	rs539839178	missense variant	-	NC_000012.12:g.124437932A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg301Ser	rs537132974	missense variant	-	NC_000012.12:g.124430769G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg301Cys	rs537132974	missense variant	-	NC_000012.12:g.124430769G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg301His	rs970829281	missense variant	-	NC_000012.12:g.124430768C>T	TOPMed
NCOR2	Q9Y618	p.Asp303Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124430761G>C	NCI-TCGA
NCOR2	Q9Y618	p.Ala308Thr	rs1488717696	missense variant	-	NC_000012.12:g.124430748C>T	gnomAD
NCOR2	Q9Y618	p.Lys311Arg	rs1219038857	missense variant	-	NC_000012.12:g.124430738T>C	gnomAD
NCOR2	Q9Y618	p.Lys312Gln	rs749576073	missense variant	-	NC_000012.12:g.124430736T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg315His	rs1012459312	missense variant	-	NC_000012.12:g.124430726C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg315Cys	rs780633770	missense variant	-	NC_000012.12:g.124430727G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg315Ser	rs780633770	missense variant	-	NC_000012.12:g.124430727G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro320Leu	rs1438939141	missense variant	-	NC_000012.12:g.124430711G>A	gnomAD
NCOR2	Q9Y618	p.Pro320Ala	rs1316318132	missense variant	-	NC_000012.12:g.124430712G>C	TOPMed
NCOR2	Q9Y618	p.Arg321Trp	rs1221147357	missense variant	-	NC_000012.12:g.124430709G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg321Gln	rs958151040	missense variant	-	NC_000012.12:g.124430708C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg322Gln	rs1439094688	missense variant	-	NC_000012.12:g.124430705C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg322Trp	rs750536452	missense variant	-	NC_000012.12:g.124430706G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg323Trp	rs1321771144	missense variant	-	NC_000012.12:g.124430703G>A	gnomAD
NCOR2	Q9Y618	p.Arg323Gln	rs757613317	missense variant	-	NC_000012.12:g.124430702C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala324Val	rs751787222	missense variant	-	NC_000012.12:g.124430699G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser327Thr	rs377627855	missense variant	-	NC_000012.12:g.124430690C>G	ESP,TOPMed
NCOR2	Q9Y618	p.Arg330His	rs1417901373	missense variant	-	NC_000012.12:g.124430681C>T	TOPMed
NCOR2	Q9Y618	p.Arg330Cys	rs762841482	missense variant	-	NC_000012.12:g.124430682G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu331Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124430679C>T	NCI-TCGA
NCOR2	Q9Y618	p.Glu334Gln	rs775085808	missense variant	-	NC_000012.12:g.124430670C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Gln336Arg	rs1381383313	missense variant	-	NC_000012.12:g.124430663T>C	TOPMed
NCOR2	Q9Y618	p.Pro338Ser	COSM5374582	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124430658G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu339Asp	rs1183978827	missense variant	-	NC_000012.12:g.124430653C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg341AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124430649G>-	NCI-TCGA
NCOR2	Q9Y618	p.Arg341His	rs867064743	missense variant	-	NC_000012.12:g.124430648C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg341Cys	rs1208020489	missense variant	-	NC_000012.12:g.124430649G>A	gnomAD
NCOR2	Q9Y618	p.Lys342Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124430644C>A	NCI-TCGA
NCOR2	Q9Y618	p.Arg344His	rs531830002	missense variant	-	NC_000012.12:g.124430639C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg344Cys	rs1449552478	missense variant	-	NC_000012.12:g.124430640G>A	TOPMed
NCOR2	Q9Y618	p.Glu348Lys	rs1300797456	missense variant	-	NC_000012.12:g.124430628C>T	gnomAD
NCOR2	Q9Y618	p.Arg349His	COSM4039937	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124430624C>T	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg349Cys	rs762502521	missense variant	-	NC_000012.12:g.124430625G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Met350Val	rs1367764675	missense variant	-	NC_000012.12:g.124430622T>C	gnomAD
NCOR2	Q9Y618	p.Met350Leu	rs1367764675	missense variant	-	NC_000012.12:g.124430622T>G	gnomAD
NCOR2	Q9Y618	p.Arg353Lys	rs1290913815	missense variant	-	NC_000012.12:g.124429704C>T	gnomAD
NCOR2	Q9Y618	p.Val354Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124429701A>G	NCI-TCGA
NCOR2	Q9Y618	p.Val354Leu	rs1229644129	missense variant	-	NC_000012.12:g.124429702C>A	gnomAD
NCOR2	Q9Y618	p.Arg357Gln	rs369543497	missense variant	-	NC_000012.12:g.124429692C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly358Ser	rs753580805	missense variant	-	NC_000012.12:g.124429690C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser359Cys	rs1250477540	missense variant	-	NC_000012.12:g.124429687T>A	TOPMed
NCOR2	Q9Y618	p.Ser362Tyr	rs766316741	missense variant	-	NC_000012.12:g.124429677G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser362Phe	rs766316741	missense variant	-	NC_000012.12:g.124429677G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Met363Thr	rs374997895	missense variant	-	NC_000012.12:g.124429674A>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser364Leu	rs1415516579	missense variant	-	NC_000012.12:g.124429671G>A	gnomAD
NCOR2	Q9Y618	p.Ala366Thr	rs550727654	missense variant	-	NC_000012.12:g.124429666C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala366Ser	rs550727654	missense variant	-	NC_000012.12:g.124429666C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg367His	rs371830068	missense variant	-	NC_000012.12:g.124429662C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg367Ser	rs760004960	missense variant	-	NC_000012.12:g.124429663G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg367Cys	rs760004960	missense variant	-	NC_000012.12:g.124429663G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser368Arg	rs369539019	missense variant	-	NC_000012.12:g.124429658G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu369Lys	rs1210754520	missense variant	-	NC_000012.12:g.124429657C>T	gnomAD
NCOR2	Q9Y618	p.Glu371Lys	rs1271776617	missense variant	-	NC_000012.12:g.124429651C>T	gnomAD
NCOR2	Q9Y618	p.Glu374Asp	rs1444269535	missense variant	-	NC_000012.12:g.124429640C>G	TOPMed
NCOR2	Q9Y618	p.Ile376Val	rs1329209107	missense variant	-	NC_000012.12:g.124429636T>C	gnomAD
NCOR2	Q9Y618	p.Asp377His	rs1236424415	missense variant	-	NC_000012.12:g.124429633C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp377Asn	rs1236424415	missense variant	-	NC_000012.12:g.124429633C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp377Gly	rs1038097336	missense variant	-	NC_000012.12:g.124429632T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly378Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124429630C>A	NCI-TCGA
NCOR2	Q9Y618	p.Leu379Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124429627G>A	NCI-TCGA
NCOR2	Q9Y618	p.Leu379Pro	rs772011833	missense variant	-	NC_000012.12:g.124429626A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu379Ile	rs1301734474	missense variant	-	NC_000012.12:g.124429627G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu381AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124429619_124429620CT>-	NCI-TCGA
NCOR2	Q9Y618	p.Glu381Gln	rs748184789	missense variant	-	NC_000012.12:g.124429621C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu381Asp	rs199934660	missense variant	-	NC_000012.12:g.124429619C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln382Lys	rs1458941088	missense variant	-	NC_000012.12:g.124429618G>T	gnomAD
NCOR2	Q9Y618	p.Gln382Arg	rs889452363	missense variant	-	NC_000012.12:g.124429617T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln382His	rs753634343	missense variant	-	NC_000012.12:g.124429616C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu385Gln	rs781019577	missense variant	-	NC_000012.12:g.124426796A>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu385Pro	rs781019577	missense variant	-	NC_000012.12:g.124426796A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg390Cys	COSM4039933	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124426782G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg390His	rs757147747	missense variant	-	NC_000012.12:g.124426781C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg390Gly	rs1373806269	missense variant	-	NC_000012.12:g.124426782G>C	gnomAD
NCOR2	Q9Y618	p.Gln391Pro	rs371462963	missense variant	-	NC_000012.12:g.124426778T>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro396Leu	rs752378493	missense variant	-	NC_000012.12:g.124426763G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met398Lys	rs1186528534	missense variant	-	NC_000012.12:g.124426757A>T	gnomAD
NCOR2	Q9Y618	p.Asp401Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124426749C>T	NCI-TCGA
NCOR2	Q9Y618	p.Ala402Thr	rs1320059043	missense variant	-	NC_000012.12:g.124426746C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln404Arg	rs1436997428	missense variant	-	NC_000012.12:g.124426739T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln404Lys	rs760978346	missense variant	-	NC_000012.12:g.124426740G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg406His	rs1401404455	missense variant	-	NC_000012.12:g.124426733C>T	gnomAD
NCOR2	Q9Y618	p.Lys408Met	rs552072410	missense variant	-	NC_000012.12:g.124426727T>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Lys408Asn	rs1229958719	missense variant	-	NC_000012.12:g.124426726C>A	gnomAD
NCOR2	Q9Y618	p.Ile410Ser	rs1367699862	missense variant	-	NC_000012.12:g.124426721A>C	TOPMed
NCOR2	Q9Y618	p.Met412Ile	rs1356883032	missense variant	-	NC_000012.12:g.124426714C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly414Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124426710C>T	NCI-TCGA
NCOR2	Q9Y618	p.Leu415Phe	rs375303038	missense variant	-	NC_000012.12:g.124426707G>A	ESP
NCOR2	Q9Y618	p.Met416Ile	rs559965106	missense variant	-	NC_000012.12:g.124426702C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala417Val	rs866912317	missense variant	-	NC_000012.12:g.124426700G>A	-
NCOR2	Q9Y618	p.Asp418His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124426698C>G	NCI-TCGA
NCOR2	Q9Y618	p.Met420Ile	rs1019445670	missense variant	-	NC_000012.12:g.124426690C>T	gnomAD
NCOR2	Q9Y618	p.Met420Val	rs1310061215	missense variant	-	NC_000012.12:g.124426692T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Met420Leu	rs1310061215	missense variant	-	NC_000012.12:g.124426692T>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val422Met	rs1327190438	missense variant	-	NC_000012.12:g.124426686C>T	gnomAD
NCOR2	Q9Y618	p.Tyr423Cys	rs370836867	missense variant	-	NC_000012.12:g.124426682T>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp425His	rs768689373	missense variant	-	NC_000012.12:g.124426677C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg426His	rs970975674	missense variant	-	NC_000012.12:g.124426673C>T	TOPMed
NCOR2	Q9Y618	p.Arg426Cys	rs749558953	missense variant	-	NC_000012.12:g.124426674G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met431Arg	rs377686687	missense variant	-	NC_000012.12:g.124426658A>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met431Leu	rs745651245	missense variant	-	NC_000012.12:g.124426659T>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Trp432Cys	COSM3457837	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124426654C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ser433Ile	rs1230968132	missense variant	-	NC_000012.12:g.124426652C>A	gnomAD
NCOR2	Q9Y618	p.Arg441Gln	rs1290514759	missense variant	-	NC_000012.12:g.124426628C>T	gnomAD
NCOR2	Q9Y618	p.Arg441Trp	rs1332749450	missense variant	-	NC_000012.12:g.124426629G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro448Leu	rs1024376821	missense variant	-	NC_000012.12:g.124422541G>A	TOPMed
NCOR2	Q9Y618	p.Lys449Asn	COSM936748	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124422537C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Gly452Asp	rs748696363	missense variant	-	NC_000012.12:g.124422529C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile454Met	rs755693513	missense variant	-	NC_000012.12:g.124422522G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala455Thr	rs151121805	missense variant	-	NC_000012.12:g.124422521C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala455Ser	rs151121805	missense variant	-	NC_000012.12:g.124422521C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Phe457Cys	rs543245239	missense variant	-	NC_000012.12:g.124422514A>C	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Val467Ile	rs754030327	missense variant	-	NC_000012.12:g.124420040C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val467Ile	rs754030327	missense variant	-	NC_000012.12:g.124420040C>T	NCI-TCGA
NCOR2	Q9Y618	p.Leu468Ile	COSM1359931	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124420037G>T	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Tyr469Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.124420032A>C	NCI-TCGA
NCOR2	Q9Y618	p.Tyr469Cys	rs181837152	missense variant	-	NC_000012.12:g.124420033T>C	1000Genomes
NCOR2	Q9Y618	p.Thr473Ile	rs1230976926	missense variant	-	NC_000012.12:g.124420021G>A	TOPMed
NCOR2	Q9Y618	p.Lys475Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124420015T>C	NCI-TCGA
NCOR2	Q9Y618	p.Asn476Ser	rs773948596	missense variant	-	NC_000012.12:g.124420012T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asn478Lys	rs1249004129	missense variant	-	NC_000012.12:g.124420005G>C	TOPMed
NCOR2	Q9Y618	p.Tyr479Cys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124420003T>C	NCI-TCGA
NCOR2	Q9Y618	p.Ser481Ile	rs775044126	missense variant	-	NC_000012.12:g.124419997C>A	ExAC
NCOR2	Q9Y618	p.Leu482Pro	rs769275779	missense variant	-	NC_000012.12:g.124419994A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Val483Glu	rs1489066227	missense variant	-	NC_000012.12:g.124419991A>T	TOPMed
NCOR2	Q9Y618	p.Val483Ala	COSM1359927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124419991A>G	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Tyr487Phe	rs1455558385	missense variant	-	NC_000012.12:g.124419979T>A	gnomAD
NCOR2	Q9Y618	p.Tyr487His	rs1162807939	missense variant	-	NC_000012.12:g.124419980A>G	gnomAD
NCOR2	Q9Y618	p.Arg488Gln	COSM936746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124419976C>T	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg490His	rs1364557381	missense variant	-	NC_000012.12:g.124419970C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly491Ser	rs1417679117	missense variant	-	NC_000012.12:g.124419968C>T	gnomAD
NCOR2	Q9Y618	p.Gln497Ter	rs1317641001	stop gained	-	NC_000012.12:g.124402555G>A	gnomAD
NCOR2	Q9Y618	p.Gln499GlnTerGln	rs745568149	stop gained	-	NC_000012.12:g.124402549_124402550insCTACTG	ExAC
NCOR2	Q9Y618	p.Gln500HisPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124402544C>-	NCI-TCGA
NCOR2	Q9Y618	p.Gln500AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124402546_124402547GC>-	NCI-TCGA
NCOR2	Q9Y618	p.Gln506His	rs369621213	missense variant	-	NC_000012.12:g.124402526C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln510Ter	rs1359967774	stop gained	-	NC_000012.12:g.124402516G>A	gnomAD
NCOR2	Q9Y618	p.Gln510Pro	rs572199383	missense variant	-	NC_000012.12:g.124402515T>G	1000Genomes,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro511Ser	rs760242258	missense variant	-	NC_000012.12:g.124402513G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg514His	rs768882087	missense variant	-	NC_000012.12:g.124402503C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg514Cys	rs376621472	missense variant	-	NC_000012.12:g.124402504G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg514His	rs768882087	missense variant	-	NC_000012.12:g.124402503C>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg514Leu	rs768882087	missense variant	-	NC_000012.12:g.124402503C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg514Gly	rs376621472	missense variant	-	NC_000012.12:g.124402504G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser516Asn	rs1215091375	missense variant	-	NC_000012.12:g.124402497C>T	gnomAD
NCOR2	Q9Y618	p.Glu518Lys	rs780737127	missense variant	-	NC_000012.12:g.124402492C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu519Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124402487C>A	NCI-TCGA
NCOR2	Q9Y618	p.Asp521Asn	rs1294115747	missense variant	-	NC_000012.12:g.124402483C>T	gnomAD
NCOR2	Q9Y618	p.Lys523Glu	rs745957297	missense variant	-	NC_000012.12:g.124402477T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu524Gly	rs1411035519	missense variant	-	NC_000012.12:g.124402473T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu524Gln	rs1391192999	missense variant	-	NC_000012.12:g.124402474C>G	TOPMed
NCOR2	Q9Y618	p.Ala529Thr	rs368778412	missense variant	-	NC_000012.12:g.124402459C>T	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala529Glu	rs376669119	missense variant	-	NC_000012.12:g.124402458G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala529Val	rs376669119	missense variant	-	NC_000012.12:g.124402458G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala529Glu	rs376669119	missense variant	-	NC_000012.12:g.124402458G>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ala529Val	rs376669119	missense variant	-	NC_000012.12:g.124402458G>A	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu532Val	COSM4932533	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124402449T>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu532Lys	rs972022362	missense variant	-	NC_000012.12:g.124402450C>T	TOPMed
NCOR2	Q9Y618	p.Lys535ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124402437_124402440GGCT>-	NCI-TCGA
NCOR2	Q9Y618	p.Pro536Leu	rs200279477	missense variant	-	NC_000012.12:g.124402437G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu537Lys	rs1383534712	missense variant	-	NC_000012.12:g.124402435C>T	TOPMed
NCOR2	Q9Y618	p.Asn540LysPheSerTerUnkUnk	COSM5232836	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124402424G>-	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asp541Val	rs765775462	missense variant	-	NC_000012.12:g.124402422T>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp541Gly	rs765775462	missense variant	-	NC_000012.12:g.124402422T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp541Asn	rs375316668	missense variant	-	NC_000012.12:g.124402423C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu543Lys	rs760425318	missense variant	-	NC_000012.12:g.124402417C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp544Glu	rs772760842	missense variant	-	NC_000012.12:g.124402412G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp544His	rs1421416158	missense variant	-	NC_000012.12:g.124402414C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu545Phe	rs1223277043	missense variant	-	NC_000012.12:g.124402411G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu546His	rs771810282	missense variant	-	NC_000012.12:g.124402407A>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp552Tyr	rs757008502	missense variant	-	NC_000012.12:g.124400660C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp552Asn	rs757008502	missense variant	-	NC_000012.12:g.124400660C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser554Leu	COSM6071588	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124400653G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu560Gly	COSM4039927	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124400635T>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Val564Met	rs201715042	missense variant	-	NC_000012.12:g.124400624C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val564Leu	rs201715042	missense variant	-	NC_000012.12:g.124400624C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg569Cys	rs761242948	missense variant	-	NC_000012.12:g.124400609G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala572Val	rs1171678859	missense variant	-	NC_000012.12:g.124400599G>A	gnomAD
NCOR2	Q9Y618	p.Ala572Val	rs1171678859	missense variant	-	NC_000012.12:g.124400599G>A	NCI-TCGA
NCOR2	Q9Y618	p.Ser574Ile	rs773321751	missense variant	-	NC_000012.12:g.124400593C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser574Gly	rs1430162036	missense variant	-	NC_000012.12:g.124400594T>C	gnomAD
NCOR2	Q9Y618	p.Arg578His	rs1187131215	missense variant	-	NC_000012.12:g.124400581C>T	gnomAD
NCOR2	Q9Y618	p.Arg581Leu	rs1213531274	missense variant	-	NC_000012.12:g.124400572C>A	gnomAD
NCOR2	Q9Y618	p.Arg581Cys	rs1261269062	missense variant	-	NC_000012.12:g.124400573G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg584Cys	rs748178736	missense variant	-	NC_000012.12:g.124400564G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala587Thr	rs749048004	missense variant	-	NC_000012.12:g.124400555C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Asn591Ser	rs1213438876	missense variant	-	NC_000012.12:g.124400542T>C	gnomAD
NCOR2	Q9Y618	p.Ser592Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124400539C>T	NCI-TCGA
NCOR2	Q9Y618	p.Glu593Lys	rs1261620947	missense variant	-	NC_000012.12:g.124400537C>T	TOPMed
NCOR2	Q9Y618	p.Ile596Phe	rs1415238711	missense variant	-	NC_000012.12:g.124400528T>A	gnomAD
NCOR2	Q9Y618	p.Ile596Val	rs1415238711	missense variant	-	NC_000012.12:g.124400528T>C	gnomAD
NCOR2	Q9Y618	p.Thr597Asn	rs775726810	missense variant	-	NC_000012.12:g.124400524G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro598Leu	rs756847310	missense variant	-	NC_000012.12:g.124400521G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gln599SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124400519G>-	NCI-TCGA
NCOR2	Q9Y618	p.Gln599ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124400518_124400519insG	NCI-TCGA
NCOR2	Q9Y618	p.Gln599His	COSM4039925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124400517C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Gln599Glu	rs751070423	missense variant	-	NC_000012.12:g.124400519G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Gln600His	rs531851112	missense variant	-	NC_000012.12:g.124400514C>G	TOPMed
NCOR2	Q9Y618	p.Gln600Arg	rs1475928442	missense variant	-	NC_000012.12:g.124400515T>C	TOPMed
NCOR2	Q9Y618	p.Ser601Gly	rs1427975793	missense variant	-	NC_000012.12:g.124400513T>C	gnomAD
NCOR2	Q9Y618	p.Ala602Thr	rs894152140	missense variant	-	NC_000012.12:g.124400510C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu603Ala	rs1161052785	missense variant	-	NC_000012.12:g.124400506T>G	TOPMed
NCOR2	Q9Y618	p.Glu603Asp	rs1180432574	missense variant	-	NC_000012.12:g.124400505C>A	gnomAD
NCOR2	Q9Y618	p.Glu603Ter	rs1257276484	stop gained	-	NC_000012.12:g.124400507C>A	gnomAD
NCOR2	Q9Y618	p.Met607Val	rs775799345	missense variant	-	NC_000012.12:g.124398176T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met607Ile	rs1364750453	missense variant	-	NC_000012.12:g.124398174C>T	gnomAD
NCOR2	Q9Y618	p.Glu608Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124398171C>G	NCI-TCGA
NCOR2	Q9Y618	p.Glu608Ala	COSM4039923	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124398172T>G	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu611Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124398164C>T	NCI-TCGA
NCOR2	Q9Y618	p.Ser612GluPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124398162_124398163insT	NCI-TCGA
NCOR2	Q9Y618	p.Arg614His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124398154C>T	NCI-TCGA
NCOR2	Q9Y618	p.Glu618Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124398143C>G	NCI-TCGA
NCOR2	Q9Y618	p.Thr622Ile	rs369027135	missense variant	-	NC_000012.12:g.124398130G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys624Gln	rs1397390840	missense variant	-	NC_000012.12:g.124398125T>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys625Glu	rs1293784699	missense variant	-	NC_000012.12:g.124398122T>C	gnomAD
NCOR2	Q9Y618	p.Lys625Arg	rs1193770562	missense variant	-	NC_000012.12:g.124398121T>C	gnomAD
NCOR2	Q9Y618	p.Arg632His	rs1450033538	missense variant	-	NC_000012.12:g.124385869C>T	gnomAD
NCOR2	Q9Y618	p.Arg632Cys	rs371025380	missense variant	-	NC_000012.12:g.124385870G>A	ESP,TOPMed
NCOR2	Q9Y618	p.Trp634Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.124385862C>T	NCI-TCGA
NCOR2	Q9Y618	p.Ser635Leu	rs755140842	missense variant	-	NC_000012.12:g.124385860G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser635Ala	rs779517766	missense variant	-	NC_000012.12:g.124385861A>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala636Thr	rs1307691879	missense variant	-	NC_000012.12:g.124385858C>T	gnomAD
NCOR2	Q9Y618	p.Ile637Val	rs756278258	missense variant	-	NC_000012.12:g.124385855T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala638Thr	rs1433879346	missense variant	-	NC_000012.12:g.124385852C>T	gnomAD
NCOR2	Q9Y618	p.Arg639Gln	rs761858151	missense variant	-	NC_000012.12:g.124385848C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg639Trp	rs767183508	missense variant	-	NC_000012.12:g.124385849G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met640Thr	rs751520375	missense variant	-	NC_000012.12:g.124385845A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Met640Val	rs1418847146	missense variant	-	NC_000012.12:g.124385846T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Met640Leu	rs1418847146	missense variant	-	NC_000012.12:g.124385846T>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser647Leu	rs760341538	missense variant	-	NC_000012.12:g.124385824G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Cys649Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124385819A>T	NCI-TCGA
NCOR2	Q9Y618	p.Tyr653Cys	rs1220649438	missense variant	-	NC_000012.12:g.124385806T>C	TOPMed
NCOR2	Q9Y618	p.Tyr656Phe	rs759082684	missense variant	-	NC_000012.12:g.124385797T>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr656Ter	rs773678863	stop gained	-	NC_000012.12:g.124385796G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg659Lys	rs748505338	missense variant	-	NC_000012.12:g.124385788C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Asn661Ser	COSM4039921	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124385782T>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asn661Lys	rs1243319812	missense variant	-	NC_000012.12:g.124385781G>T	TOPMed
NCOR2	Q9Y618	p.Asp663Asn	rs1213658143	missense variant	-	NC_000012.12:g.124385777C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu666PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124385766_124385767insA	NCI-TCGA
NCOR2	Q9Y618	p.His669Tyr	rs749439677	missense variant	-	NC_000012.12:g.124385759G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Met673Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124385746A>G	NCI-TCGA
NCOR2	Q9Y618	p.Lys675Arg	rs760401324	missense variant	-	NC_000012.12:g.124378380T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala679Val	rs775891931	missense variant	-	NC_000012.12:g.124378368G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala679Pro	rs367654646	missense variant	-	NC_000012.12:g.124378369C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala679Thr	rs367654646	missense variant	-	NC_000012.12:g.124378369C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala679Thr	rs367654646	missense variant	-	NC_000012.12:g.124378369C>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg680Trp	rs745945465	missense variant	-	NC_000012.12:g.124378366G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg680Gln	rs373767918	missense variant	-	NC_000012.12:g.124378365C>T	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Arg680Gln	rs373767918	missense variant	-	NC_000012.12:g.124378365C>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Lys682Arg	COSM5129423	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378359T>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Lys682Glu	rs771207656	missense variant	-	NC_000012.12:g.124378360T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys684Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124378352C>A	NCI-TCGA
NCOR2	Q9Y618	p.Lys684Glu	COSM4039917	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378354T>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ala686Val	rs202018365	missense variant	-	NC_000012.12:g.124378347G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro687Leu	rs758223967	missense variant	-	NC_000012.12:g.124378344G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala688Val	rs200172145	missense variant	-	NC_000012.12:g.124378341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala689Val	rs373664965	missense variant	-	NC_000012.12:g.124378338G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala690Val	rs1202645166	missense variant	-	NC_000012.12:g.124378335G>A	TOPMed
NCOR2	Q9Y618	p.Ser691Asn	rs778125767	missense variant	-	NC_000012.12:g.124378332C>T	gnomAD
NCOR2	Q9Y618	p.Glu692Asp	rs370837121	missense variant	-	NC_000012.12:g.124378328C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu692Lys	rs750121527	missense variant	-	NC_000012.12:g.124378330C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu692Ter	rs750121527	stop gained	-	NC_000012.12:g.124378330C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu693Asp	COSM936734	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378325C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ala694Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124378324C>T	NCI-TCGA
NCOR2	Q9Y618	p.Ala695Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124378320G>A	NCI-TCGA
NCOR2	Q9Y618	p.Ala695Thr	rs1421889309	missense variant	-	NC_000012.12:g.124378321C>T	gnomAD
NCOR2	Q9Y618	p.Phe696Leu	rs1158575353	missense variant	-	NC_000012.12:g.124378318A>G	gnomAD
NCOR2	Q9Y618	p.Pro697Leu	rs371054468	missense variant	-	NC_000012.12:g.124378314G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val699Met	rs771023965	missense variant	-	NC_000012.12:g.124378309C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val699Met	rs771023965	missense variant	-	NC_000012.12:g.124378309C>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Val700AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124378305_124378306insTACAAAGTCAAAAGTAGTG	NCI-TCGA
NCOR2	Q9Y618	p.Glu701Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.124378303C>A	NCI-TCGA
NCOR2	Q9Y618	p.Asp702Asn	rs760708923	missense variant	-	NC_000012.12:g.124378300C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu703Asp	rs1297678096	missense variant	-	NC_000012.12:g.124378295C>A	TOPMed
NCOR2	Q9Y618	p.Glu706Ala	rs377686301	missense variant	-	NC_000012.12:g.124378287T>G	ESP,gnomAD
NCOR2	Q9Y618	p.Ala707Val	rs1214382540	missense variant	-	NC_000012.12:g.124378284G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser708Leu	rs772228038	missense variant	-	NC_000012.12:g.124378281G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser708Leu	rs772228038	missense variant	-	NC_000012.12:g.124378281G>A	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Val710Leu	rs749225102	missense variant	-	NC_000012.12:g.124378276C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val710Leu	rs749225102	missense variant	-	NC_000012.12:g.124378276C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val710Met	rs749225102	missense variant	-	NC_000012.12:g.124378276C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser711Arg	rs376051705	missense variant	-	NC_000012.12:g.124378271G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu715Val	COSM6135977	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378260T>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu716Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124378257T>A	NCI-TCGA
NCOR2	Q9Y618	p.Glu716Gln	COSM4039915	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124378258C>G	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Met717Ile	rs984263850	missense variant	-	NC_000012.12:g.124378253C>T	TOPMed
NCOR2	Q9Y618	p.Glu719Gly	rs755715468	missense variant	-	NC_000012.12:g.124378248T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu720Asp	rs749886243	missense variant	-	NC_000012.12:g.124378244C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala723Gly	rs1369322183	missense variant	-	NC_000012.12:g.124374463G>C	TOPMed
NCOR2	Q9Y618	p.His725Tyr	rs756613603	missense variant	-	NC_000012.12:g.124374458G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.His725Arg	rs376775457	missense variant	-	NC_000012.12:g.124374457T>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala726Val	rs1367886254	missense variant	-	NC_000012.12:g.124374454G>A	TOPMed
NCOR2	Q9Y618	p.Gly728Glu	COSM467978	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124374448C>T	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Gly728Arg	rs761748151	missense variant	-	NC_000012.12:g.124374449C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu730Val	rs764152807	missense variant	-	NC_000012.12:g.124374442T>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Val731Met	rs1339188934	missense variant	-	NC_000012.12:g.124374440C>T	gnomAD
NCOR2	Q9Y618	p.Pro732Ser	rs762816609	missense variant	-	NC_000012.12:g.124374437G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg733Gly	rs775411879	missense variant	-	NC_000012.12:g.124374434T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu735Gln	rs371284044	missense variant	-	NC_000012.12:g.124374428C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Cys736Arg	rs770507824	missense variant	-	NC_000012.12:g.124374425A>G	ExAC,TOPMed
NCOR2	Q9Y618	p.Cys736Gly	rs770507824	missense variant	-	NC_000012.12:g.124374425A>C	ExAC,TOPMed
NCOR2	Q9Y618	p.Ser737Gly	rs746439656	missense variant	-	NC_000012.12:g.124374422T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly738Ser	rs1162390841	missense variant	-	NC_000012.12:g.124374419C>T	gnomAD
NCOR2	Q9Y618	p.Ala740Ser	rs757973745	missense variant	-	NC_000012.12:g.124374413C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asn743Ser	rs1486399893	missense variant	-	NC_000012.12:g.124372601T>C	TOPMed
NCOR2	Q9Y618	p.Asn744Asp	rs766406156	missense variant	-	NC_000012.12:g.124372599T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser745Thr	rs1312270286	missense variant	-	NC_000012.12:g.124372595C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr748Ile	rs1221329283	missense variant	-	NC_000012.12:g.124372586G>A	gnomAD
NCOR2	Q9Y618	p.Glu749Lys	rs761275073	missense variant	-	NC_000012.12:g.124372584C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro752Ala	rs746285912	missense variant	-	NC_000012.12:g.124372575G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro752Leu	rs781402660	missense variant	-	NC_000012.12:g.124372574G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser753Cys	COSM6135979	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372571G>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro754Thr	rs1333540307	missense variant	-	NC_000012.12:g.124372569G>T	gnomAD
NCOR2	Q9Y618	p.Pro754Thr	rs1333540307	missense variant	-	NC_000012.12:g.124372569G>T	NCI-TCGA
NCOR2	Q9Y618	p.His755Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372566G>C	NCI-TCGA
NCOR2	Q9Y618	p.His755Arg	rs915026120	missense variant	-	NC_000012.12:g.124372565T>C	TOPMed
NCOR2	Q9Y618	p.Thr756Ser	rs1468469096	missense variant	-	NC_000012.12:g.124372562G>C	gnomAD
NCOR2	Q9Y618	p.Ala759Val	rs375794210	missense variant	-	NC_000012.12:g.124372553G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala759Thr	rs747451283	missense variant	-	NC_000012.12:g.124372554C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala759Thr	rs747451283	missense variant	-	NC_000012.12:g.124372554C>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asp761Asn	rs372794042	missense variant	-	NC_000012.12:g.124372548C>T	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Asp761Val	rs370533497	missense variant	-	NC_000012.12:g.124372547T>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp761Tyr	rs372794042	missense variant	-	NC_000012.12:g.124372548C>A	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Gly763Glu	rs1483837310	missense variant	-	NC_000012.12:g.124372541C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln764Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372538T>A	NCI-TCGA
NCOR2	Q9Y618	p.Gly766Glu	rs755247494	missense variant	-	NC_000012.12:g.124372532C>T	ExAC
NCOR2	Q9Y618	p.Lys768Asn	rs766069867	missense variant	-	NC_000012.12:g.124372525C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys768Thr	rs753708090	missense variant	-	NC_000012.12:g.124372526T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro770ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124372501_124372520GTCGGCGCCCAGGGTGGCTG>-	NCI-TCGA
NCOR2	Q9Y618	p.Pro770Ser	rs376031883	missense variant	-	NC_000012.12:g.124372521G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala771Thr	rs767378143	missense variant	-	NC_000012.12:g.124372518C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu773Val	rs1185038107	missense variant	-	NC_000012.12:g.124372512G>C	TOPMed
NCOR2	Q9Y618	p.Gly774Asp	rs762561340	missense variant	-	NC_000012.12:g.124372508C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala775Thr	rs369819038	missense variant	-	NC_000012.12:g.124372506C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp776Tyr	rs200734211	missense variant	-	NC_000012.12:g.124372503C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp776Asn	rs200734211	missense variant	-	NC_000012.12:g.124372503C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly777Arg	rs201469143	missense variant	-	NC_000012.12:g.124372500C>T	NCI-TCGA
NCOR2	Q9Y618	p.Gly777Arg	rs201469143	missense variant	-	NC_000012.12:g.124372500C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro778Leu	rs368780410	missense variant	-	NC_000012.12:g.124372496G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro779Ser	rs780286105	missense variant	-	NC_000012.12:g.124372494G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro780Ser	rs1440999293	missense variant	-	NC_000012.12:g.124372491G>A	gnomAD
NCOR2	Q9Y618	p.Gly781Glu	rs7978237	missense variant	-	NC_000012.12:g.124372487C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly781Glu	rs7978237	missense variant	-	NC_000012.12:g.124372487C>T	UniProt,dbSNP
NCOR2	Q9Y618	p.Gly781Glu	VAR_060073	missense variant	-	NC_000012.12:g.124372487C>T	UniProt
NCOR2	Q9Y618	p.Gly781Ala	rs7978237	missense variant	-	NC_000012.12:g.124372487C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro782Arg	rs767498497	missense variant	-	NC_000012.12:g.124372484G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro783Ser	rs751105767	missense variant	-	NC_000012.12:g.124372482G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro783Leu	rs1321107170	missense variant	-	NC_000012.12:g.124372481G>A	gnomAD
NCOR2	Q9Y618	p.Thr784Ile	rs763571158	missense variant	-	NC_000012.12:g.124372478G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr784Pro	rs1261726301	missense variant	-	NC_000012.12:g.124372479T>G	TOPMed
NCOR2	Q9Y618	p.Pro785Leu	COSM3457833	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372475G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro786Ser	rs762476709	missense variant	-	NC_000012.12:g.124372473G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro787Leu	rs202028951	missense variant	-	NC_000012.12:g.124372469G>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Glu788Asp	rs764876449	missense variant	-	NC_000012.12:g.124372465C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu788Asp	rs764876449	missense variant	-	NC_000012.12:g.124372465C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp789Tyr	rs761004263	missense variant	-	NC_000012.12:g.124372464C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp789Gly	rs1179090652	missense variant	-	NC_000012.12:g.124372463T>C	TOPMed
NCOR2	Q9Y618	p.Pro791Ser	rs773708902	missense variant	-	NC_000012.12:g.124372458G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro791Leu	rs371727103	missense variant	-	NC_000012.12:g.124372457G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala792Thr	rs1180422025	missense variant	-	NC_000012.12:g.124372455C>T	gnomAD
NCOR2	Q9Y618	p.Thr794Pro	rs774953506	missense variant	-	NC_000012.12:g.124372449T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr794Ser	rs1470841451	missense variant	-	NC_000012.12:g.124372448G>C	TOPMed
NCOR2	Q9Y618	p.Thr794Ala	rs774953506	missense variant	-	NC_000012.12:g.124372449T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr797Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372440T>C	NCI-TCGA
NCOR2	Q9Y618	p.Thr797Ile	rs749325325	missense variant	-	NC_000012.12:g.124372439G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro798Leu	rs558636368	missense variant	-	NC_000012.12:g.124372436G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala799Thr	rs1331027981	missense variant	-	NC_000012.12:g.124372434C>T	TOPMed
NCOR2	Q9Y618	p.Ala799Val	rs745712638	missense variant	-	NC_000012.12:g.124372433G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu801Asp	rs1205594281	missense variant	-	NC_000012.12:g.124372426T>A	gnomAD
NCOR2	Q9Y618	p.Thr803Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372421G>A	NCI-TCGA
NCOR2	Q9Y618	p.Thr803Pro	rs757234397	missense variant	-	NC_000012.12:g.124372422T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly804Arg	rs574724205	missense variant	-	NC_000012.12:g.124372419C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala805Val	rs1281938822	missense variant	-	NC_000012.12:g.124372415G>A	TOPMed
NCOR2	Q9Y618	p.Thr807Met	rs757849016	missense variant	-	NC_000012.12:g.124372409G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro810Ser	rs773762003	missense variant	-	NC_000012.12:g.124372401G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala811Gly	rs768020599	missense variant	-	NC_000012.12:g.124372397G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro812Thr	rs371859545	missense variant	-	NC_000012.12:g.124372395G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro812His	rs1450987896	missense variant	-	NC_000012.12:g.124372394G>T	gnomAD
NCOR2	Q9Y618	p.Ser814Leu	rs566444294	missense variant	-	NC_000012.12:g.124372388G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro815Leu	rs548626739	missense variant	-	NC_000012.12:g.124372385G>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ser816Phe	rs746076517	missense variant	-	NC_000012.12:g.124372382G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala817Val	rs1434792123	missense variant	-	NC_000012.12:g.124372379G>A	TOPMed
NCOR2	Q9Y618	p.Pro820Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372371G>C	NCI-TCGA
NCOR2	Q9Y618	p.Pro820Ser	COSM3457831	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372371G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Val821Ala	rs1262374220	missense variant	-	NC_000012.12:g.124372367A>G	gnomAD
NCOR2	Q9Y618	p.Val821Met	rs781341207	missense variant	-	NC_000012.12:g.124372368C>T	ExAC
NCOR2	Q9Y618	p.Val822Ile	rs1204699305	missense variant	-	NC_000012.12:g.124372365C>T	gnomAD
NCOR2	Q9Y618	p.Pro823Leu	rs777699312	missense variant	-	NC_000012.12:g.124372361G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro823Arg	rs777699312	missense variant	-	NC_000012.12:g.124372361G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys824Glu	rs758354006	missense variant	-	NC_000012.12:g.124372359T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu825Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372356C>T	NCI-TCGA
NCOR2	Q9Y618	p.Glu825Asp	rs752191104	missense variant	-	NC_000012.12:g.124372354C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu826Ala	rs778463817	missense variant	-	NC_000012.12:g.124372352T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu826Asp	rs754397696	missense variant	-	NC_000012.12:g.124372351C>A	ExAC
NCOR2	Q9Y618	p.Lys827Glu	rs200545956	missense variant	-	NC_000012.12:g.124372350T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu828Val	rs1380968347	missense variant	-	NC_000012.12:g.124372346T>A	gnomAD
NCOR2	Q9Y618	p.Ala832Thr	rs751961786	missense variant	-	NC_000012.12:g.124372335C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala833Val	rs764572269	missense variant	-	NC_000012.12:g.124372331G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala834Val	rs763483936	missense variant	-	NC_000012.12:g.124372328G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro836Gln	rs769939333	missense variant	-	NC_000012.12:g.124372322G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu839Asp	rs1261347991	missense variant	-	NC_000012.12:g.124372312C>G	gnomAD
NCOR2	Q9Y618	p.Glu839Lys	rs551146451	missense variant	-	NC_000012.12:g.124372314C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Gly840Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372311C>A	NCI-TCGA
NCOR2	Q9Y618	p.Gly840Arg	rs1200678956	missense variant	-	NC_000012.12:g.124372311C>T	gnomAD
NCOR2	Q9Y618	p.Glu841ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124372308C>-	NCI-TCGA
NCOR2	Q9Y618	p.Glu841Lys	rs981696281	missense variant	-	NC_000012.12:g.124372308C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu841Ala	rs1225662254	missense variant	-	NC_000012.12:g.124372307T>G	gnomAD
NCOR2	Q9Y618	p.Glu842Lys	rs777595773	missense variant	-	NC_000012.12:g.124372305C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln843Arg	rs1403180266	missense variant	-	NC_000012.12:g.124372301T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys844Asn	rs1332784435	missense variant	-	NC_000012.12:g.124372297C>G	gnomAD
NCOR2	Q9Y618	p.Pro845Ala	rs1465740220	missense variant	-	NC_000012.12:g.124372296G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro845Leu	rs1260863579	missense variant	-	NC_000012.12:g.124372295G>A	TOPMed
NCOR2	Q9Y618	p.Pro845Ser	rs1465740220	missense variant	-	NC_000012.12:g.124372296G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro845Thr	rs1465740220	missense variant	-	NC_000012.12:g.124372296G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala847ArgPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124372290_124372291insG	NCI-TCGA
NCOR2	Q9Y618	p.Ala847ArgPheSerTerUnkUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124372291G>-	NCI-TCGA
NCOR2	Q9Y618	p.Ala847Thr	rs969895149	missense variant	-	NC_000012.12:g.124372290C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala847Val	rs1473630636	missense variant	-	NC_000012.12:g.124372289G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala848Thr	rs1184372270	missense variant	-	NC_000012.12:g.124372287C>T	gnomAD
NCOR2	Q9Y618	p.Glu849Gln	rs142292731	missense variant	-	NC_000012.12:g.124372284C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu849Lys	rs142292731	missense variant	-	NC_000012.12:g.124372284C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu849Val	rs1158499925	missense variant	-	NC_000012.12:g.124372283T>A	TOPMed
NCOR2	Q9Y618	p.Glu850Asp	rs1241596979	missense variant	-	NC_000012.12:g.124372279C>G	gnomAD
NCOR2	Q9Y618	p.Glu850Asp	rs1241596979	missense variant	-	NC_000012.12:g.124372279C>A	gnomAD
NCOR2	Q9Y618	p.Ala852Val	rs779914604	missense variant	-	NC_000012.12:g.124372274G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Val853Gly	rs1438505172	missense variant	-	NC_000012.12:g.124372271A>C	gnomAD
NCOR2	Q9Y618	p.Asp854Tyr	rs1272872834	missense variant	-	NC_000012.12:g.124372269C>A	gnomAD
NCOR2	Q9Y618	p.Thr855Ile	rs1223601520	missense variant	-	NC_000012.12:g.124372265G>A	gnomAD
NCOR2	Q9Y618	p.Glu859Ala	rs752009943	missense variant	-	NC_000012.12:g.124372253T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu859Lys	rs1292964006	missense variant	-	NC_000012.12:g.124372254C>T	gnomAD
NCOR2	Q9Y618	p.Glu860Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372251C>T	NCI-TCGA
NCOR2	Q9Y618	p.Pro861Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372247G>A	NCI-TCGA
NCOR2	Q9Y618	p.Val862Ile	rs561312737	missense variant	-	NC_000012.12:g.124372245C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val862Asp	rs541791296	missense variant	-	NC_000012.12:g.124372244A>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser864Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372237G>C	NCI-TCGA
NCOR2	Q9Y618	p.Ser864Gly	rs1407023581	missense variant	-	NC_000012.12:g.124372239T>C	gnomAD
NCOR2	Q9Y618	p.Ser864Asn	rs1391447994	missense variant	-	NC_000012.12:g.124372238C>T	gnomAD
NCOR2	Q9Y618	p.Glu865Gln	rs760866377	missense variant	-	NC_000012.12:g.124372236C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu865Lys	rs760866377	missense variant	-	NC_000012.12:g.124372236C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr867Arg	rs373652975	missense variant	-	NC_000012.12:g.124372229G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr867Met	rs373652975	missense variant	-	NC_000012.12:g.124372229G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr867Ala	rs1383586344	missense variant	-	NC_000012.12:g.124372230T>C	gnomAD
NCOR2	Q9Y618	p.Glu868Gln	rs747835155	missense variant	-	NC_000012.12:g.124372227C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu868Asp	rs774364107	missense variant	-	NC_000012.12:g.124372225C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu869Lys	rs201072300	missense variant	-	NC_000012.12:g.124372224C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Glu869Gly	rs748876863	missense variant	-	NC_000012.12:g.124372223T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala870Pro	rs1222183088	missense variant	-	NC_000012.12:g.124372221C>G	gnomAD
NCOR2	Q9Y618	p.Glu871Lys	rs370196674	missense variant	-	NC_000012.12:g.124372218C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly873Arg	rs745553471	missense variant	-	NC_000012.12:g.124372212C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly873Val	rs1295653711	missense variant	-	NC_000012.12:g.124372211C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro874Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372209G>C	NCI-TCGA
NCOR2	Q9Y618	p.Pro874Leu	rs375861088	missense variant	-	NC_000012.12:g.124372208G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys876Arg	rs201646624	missense variant	-	NC_000012.12:g.124372202T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys876Glu	rs1438062508	missense variant	-	NC_000012.12:g.124372203T>C	gnomAD
NCOR2	Q9Y618	p.Gly877Ser	rs1181115614	missense variant	-	NC_000012.12:g.124372200C>T	TOPMed
NCOR2	Q9Y618	p.Gly877Asp	rs765830177	missense variant	-	NC_000012.12:g.124372199C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala880Thr	rs753968689	missense variant	-	NC_000012.12:g.124372191C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala880Gly	rs370796836	missense variant	-	NC_000012.12:g.124372190G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala880Val	rs370796836	missense variant	-	NC_000012.12:g.124372190G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu881Val	rs767579848	missense variant	-	NC_000012.12:g.124372187T>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu881Lys	rs773491063	missense variant	-	NC_000012.12:g.124372188C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala883Thr	rs373358465	missense variant	-	NC_000012.12:g.124372182C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala883Asp	rs1199362391	missense variant	-	NC_000012.12:g.124372181G>T	gnomAD
NCOR2	Q9Y618	p.Ala885Val	rs1489946427	missense variant	-	NC_000012.12:g.124372175G>A	gnomAD
NCOR2	Q9Y618	p.Thr886Ala	rs1265804931	missense variant	-	NC_000012.12:g.124372173T>C	gnomAD
NCOR2	Q9Y618	p.Thr886Met	rs754519540	missense variant	-	NC_000012.12:g.124372172G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala887Asp	rs540305437	missense variant	-	NC_000012.12:g.124372169G>T	1000Genomes
NCOR2	Q9Y618	p.Glu888Asp	rs554536239	missense variant	-	NC_000012.12:g.124372165C>G	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Glu888Ter	COSM6135981	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124372167C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu888Lys	rs576230627	missense variant	-	NC_000012.12:g.124372167C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Glu888Asp	rs554536239	missense variant	-	NC_000012.12:g.124372165C>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala890Val	rs377259499	missense variant	-	NC_000012.12:g.124372160G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala890Thr	rs1282504907	missense variant	-	NC_000012.12:g.124372161C>T	gnomAD
NCOR2	Q9Y618	p.Leu891Arg	rs1266425630	missense variant	-	NC_000012.12:g.124372157A>C	gnomAD
NCOR2	Q9Y618	p.Ala893Thr	rs748611603	missense variant	-	NC_000012.12:g.124372152C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala893Glu	rs779227602	missense variant	-	NC_000012.12:g.124372151G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu894Lys	rs1488718449	missense variant	-	NC_000012.12:g.124372149C>T	gnomAD
NCOR2	Q9Y618	p.Lys896Gln	rs755287140	missense variant	-	NC_000012.12:g.124372143T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys896Glu	rs755287140	missense variant	-	NC_000012.12:g.124372143T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu897Gly	rs754376024	missense variant	-	NC_000012.12:g.124372139T>C	ExAC
NCOR2	Q9Y618	p.Gly899Trp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372134C>A	NCI-TCGA
NCOR2	Q9Y618	p.Gly899Arg	rs767851551	missense variant	-	NC_000012.12:g.124372134C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly899Glu	rs1248481207	missense variant	-	NC_000012.12:g.124372133C>T	TOPMed
NCOR2	Q9Y618	p.Ser900Asn	rs1045467748	missense variant	-	NC_000012.12:g.124372130C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser900Arg	rs751416723	missense variant	-	NC_000012.12:g.124372129G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly901Ser	rs200049526	missense variant	-	NC_000012.12:g.124372128C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly901Asp	rs762794536	missense variant	-	NC_000012.12:g.124372127C>T	ExAC
NCOR2	Q9Y618	p.Arg902Lys	rs775569434	missense variant	-	NC_000012.12:g.124372124C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala903Thr	rs569531615	missense variant	-	NC_000012.12:g.124372122C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala903Gly	rs775999959	missense variant	-	NC_000012.12:g.124372121G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala903Ser	rs569531615	missense variant	-	NC_000012.12:g.124372122C>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala903Val	rs775999959	missense variant	-	NC_000012.12:g.124372121G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr904Ala	rs1201300873	missense variant	-	NC_000012.12:g.124372119T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr904Ser	rs1201300873	missense variant	-	NC_000012.12:g.124372119T>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser908Cys	rs1296264221	missense variant	-	NC_000012.12:g.124372107T>A	gnomAD
NCOR2	Q9Y618	p.Ser909Leu	rs375248734	missense variant	-	NC_000012.12:g.124372103G>A	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala911Thr	rs749599810	missense variant	-	NC_000012.12:g.124372098C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala911Val	rs1361747043	missense variant	-	NC_000012.12:g.124372097G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro912Leu	COSM3871061	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372094G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro912Ser	COSM3457829	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124372095G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Gln913ArgPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124372092G>-	NCI-TCGA
NCOR2	Q9Y618	p.Gln913Arg	rs780599378	missense variant	-	NC_000012.12:g.124372091T>C	ExAC
NCOR2	Q9Y618	p.Gln913Ter	rs1336150911	stop gained	-	NC_000012.12:g.124372092G>A	gnomAD
NCOR2	Q9Y618	p.Asp916Glu	rs750560367	missense variant	-	NC_000012.12:g.124372081G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp916Asn	rs1403046559	missense variant	-	NC_000012.12:g.124372083C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp916Gly	rs1171772093	missense variant	-	NC_000012.12:g.124372082T>C	gnomAD
NCOR2	Q9Y618	p.Ser917Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372079G>A	NCI-TCGA
NCOR2	Q9Y618	p.Cys921Arg	rs757309743	missense variant	-	NC_000012.12:g.124372068A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala923Val	rs1181188384	missense variant	-	NC_000012.12:g.124372061G>A	gnomAD
NCOR2	Q9Y618	p.Ala923Gly	rs1181188384	missense variant	-	NC_000012.12:g.124372061G>C	gnomAD
NCOR2	Q9Y618	p.Asp924Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372058T>C	NCI-TCGA
NCOR2	Q9Y618	p.Glu925Lys	rs1251773801	missense variant	-	NC_000012.12:g.124372056C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val926Met	rs1203755015	missense variant	-	NC_000012.12:g.124372053C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu928Lys	rs764342136	missense variant	-	NC_000012.12:g.124372047C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu930Lys	rs1426291195	missense variant	-	NC_000012.12:g.124372041C>T	TOPMed
NCOR2	Q9Y618	p.Gly931Val	rs1169309528	missense variant	-	NC_000012.12:g.124372037C>A	TOPMed
NCOR2	Q9Y618	p.Gly932Ser	rs1314682260	missense variant	-	NC_000012.12:g.124372035C>T	gnomAD
NCOR2	Q9Y618	p.Asp933Asn	rs199841782	missense variant	-	NC_000012.12:g.124372032C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys934Glu	rs1299185275	missense variant	-	NC_000012.12:g.124372029T>C	gnomAD
NCOR2	Q9Y618	p.Lys934Arg	rs1364923325	missense variant	-	NC_000012.12:g.124372028T>C	TOPMed
NCOR2	Q9Y618	p.Arg936Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124372022C>A	NCI-TCGA
NCOR2	Q9Y618	p.Arg936Trp	rs147831485	missense variant	-	NC_000012.12:g.124372023G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu938Pro	rs770082105	missense variant	-	NC_000012.12:g.124363794A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro940Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124363788G>A	NCI-TCGA
NCOR2	Q9Y618	p.Arg941Gly	rs777015163	missense variant	-	NC_000012.12:g.124363786T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser943Thr	rs747151335	missense variant	-	NC_000012.12:g.124363779C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser943Ile	rs747151335	missense variant	-	NC_000012.12:g.124363779C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro947Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124363768G>A	NCI-TCGA
NCOR2	Q9Y618	p.Pro947Thr	rs1461629992	missense variant	-	NC_000012.12:g.124363768G>T	TOPMed
NCOR2	Q9Y618	p.Pro947Leu	rs748412865	missense variant	-	NC_000012.12:g.124363767G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro947Leu	rs748412865	missense variant	-	NC_000012.12:g.124363767G>A	NCI-TCGA
NCOR2	Q9Y618	p.Asp950Asn	rs753655124	missense variant	-	NC_000012.12:g.124363759C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro951Ser	rs1224670330	missense variant	-	NC_000012.12:g.124363756G>A	gnomAD
NCOR2	Q9Y618	p.Arg952Pro	rs756016942	missense variant	-	NC_000012.12:g.124363752C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg952Trp	rs1345192492	missense variant	-	NC_000012.12:g.124363753G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg952Gln	rs756016942	missense variant	-	NC_000012.12:g.124363752C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asn954Ser	rs1336715536	missense variant	-	NC_000012.12:g.124363746T>C	gnomAD
NCOR2	Q9Y618	p.Asn954Lys	rs1385191260	missense variant	-	NC_000012.12:g.124363745A>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser956Leu	rs767040589	missense variant	-	NC_000012.12:g.124363740G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln958Lys	rs761269083	missense variant	-	NC_000012.12:g.124363735G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys959Gln	rs763741888	missense variant	-	NC_000012.12:g.124363732T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro960Ser	rs370992037	missense variant	-	NC_000012.12:g.124363729G>A	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Leu961Pro	rs1484756517	missense variant	-	NC_000012.12:g.124363725A>G	TOPMed
NCOR2	Q9Y618	p.Lys964Gln	rs777047170	missense variant	-	NC_000012.12:g.124363717T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg969Gln	rs1485314287	missense variant	-	NC_000012.12:g.124363701C>T	TOPMed
NCOR2	Q9Y618	p.Ala970Val	rs771380152	missense variant	-	NC_000012.12:g.124363698G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala972Gly	rs773815258	missense variant	-	NC_000012.12:g.124363692G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro974Leu	rs1475273115	missense variant	-	NC_000012.12:g.124363686G>A	TOPMed
NCOR2	Q9Y618	p.Pro975Arg	rs200740729	missense variant	-	NC_000012.12:g.124363683G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro975Ser	rs1265081325	missense variant	-	NC_000012.12:g.124363684G>A	gnomAD
NCOR2	Q9Y618	p.Pro975His	rs200740729	missense variant	-	NC_000012.12:g.124363683G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile976HisPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124363681_124363682insG	NCI-TCGA
NCOR2	Q9Y618	p.Ile976SerPheSerTerUnkUnk	COSM1163694	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124363682G>-	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ile976Leu	rs1455633915	missense variant	-	NC_000012.12:g.124363681T>G	TOPMed
NCOR2	Q9Y618	p.Gln977His	rs201362929	missense variant	-	NC_000012.12:g.124362295C>G	1000Genomes
NCOR2	Q9Y618	p.Val978Ile	rs1395765990	missense variant	-	NC_000012.12:g.124362294C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr979Ala	rs781160878	missense variant	-	NC_000012.12:g.124362291T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys980Glu	rs757179516	missense variant	-	NC_000012.12:g.124362288T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys980Thr	rs146881270	missense variant	-	NC_000012.12:g.124362287T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys980Arg	rs146881270	missense variant	-	NC_000012.12:g.124362287T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val981Ala	rs1182951497	missense variant	-	NC_000012.12:g.124362284A>G	gnomAD
NCOR2	Q9Y618	p.His982Arg	rs757797508	missense variant	-	NC_000012.12:g.124362281T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu983Asp	rs752399829	missense variant	-	NC_000012.12:g.124362277C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu983Asp	rs752399829	missense variant	-	NC_000012.12:g.124362277C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro984Leu	rs764926503	missense variant	-	NC_000012.12:g.124362275G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro984Arg	rs764926503	missense variant	-	NC_000012.12:g.124362275G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro984Ser	rs1046590158	missense variant	-	NC_000012.12:g.124362276G>A	TOPMed
NCOR2	Q9Y618	p.Pro984His	rs764926503	missense variant	-	NC_000012.12:g.124362275G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro985Arg	rs761180663	missense variant	-	NC_000012.12:g.124362272G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg986Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124362269C>A	NCI-TCGA
NCOR2	Q9Y618	p.Arg986Gly	rs561270684	missense variant	-	NC_000012.12:g.124362270G>C	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Arg986Gln	rs762362538	missense variant	-	NC_000012.12:g.124362269C>T	ExAC,TOPMed
NCOR2	Q9Y618	p.Arg986GlyPheSerTerUnkUnk	COSM4705995	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124362270G>-	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg986Trp	rs561270684	missense variant	-	NC_000012.12:g.124362270G>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Arg986ProPheSerTerUnkUnk	rs746871841	frameshift	-	NC_000012.12:g.124362269_124362270insG	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ala989Thr	rs369551209	missense variant	-	NC_000012.12:g.124362261C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro991Ser	rs1356554813	missense variant	-	NC_000012.12:g.124362255G>A	gnomAD
NCOR2	Q9Y618	p.Pro994Ala	rs1456618783	missense variant	-	NC_000012.12:g.124362246G>C	TOPMed
NCOR2	Q9Y618	p.Ala995Gly	rs11057592	missense variant	-	NC_000012.12:g.124362242G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro996Ser	rs372355351	missense variant	-	NC_000012.12:g.124362240G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro997Leu	rs557265827	missense variant	-	NC_000012.12:g.124362236G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro997Gln	rs557265827	missense variant	-	NC_000012.12:g.124362236G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro997Arg	rs557265827	missense variant	-	NC_000012.12:g.124362236G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1000Leu	rs746988810	missense variant	-	NC_000012.12:g.124362227G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1001Ser	rs777531858	missense variant	-	NC_000012.12:g.124362225G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1002Ser	rs1172671166	missense variant	-	NC_000012.12:g.124362222G>A	TOPMed
NCOR2	Q9Y618	p.Pro1002Leu	rs545534542	missense variant	-	NC_000012.12:g.124362221G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1007Ser	COSM1359911	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124362207G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1007Leu	rs778776770	missense variant	-	NC_000012.12:g.124362206G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1009Asn	rs367670978	missense variant	-	NC_000012.12:g.124362200C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1009Arg	rs374201637	missense variant	-	NC_000012.12:g.124362199G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1009Ile	rs367670978	missense variant	-	NC_000012.12:g.124362200C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1010Asn	rs374585160	missense variant	-	NC_000012.12:g.124362198C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1011Thr	rs764447197	missense variant	-	NC_000012.12:g.124362195C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1011Ser	rs764447197	missense variant	-	NC_000012.12:g.124362195C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln1013Pro	rs765481521	missense variant	-	NC_000012.12:g.124362188T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Gln1013Ter	COSM1299094	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124362189G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1019Thr	rs1286322259	missense variant	-	NC_000012.12:g.124362171G>T	gnomAD
NCOR2	Q9Y618	p.Pro1019Ser	rs1286322259	missense variant	-	NC_000012.12:g.124362171G>A	gnomAD
NCOR2	Q9Y618	p.Pro1019Ala	rs1286322259	missense variant	-	NC_000012.12:g.124362171G>C	gnomAD
NCOR2	Q9Y618	p.Arg1020ProPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124362167_124362168insG	NCI-TCGA
NCOR2	Q9Y618	p.Arg1020Gln	rs371445558	missense variant	-	NC_000012.12:g.124362167C>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg1020Gln	rs371445558	missense variant	-	NC_000012.12:g.124362167C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1020Trp	rs761012912	missense variant	-	NC_000012.12:g.124362168G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1021Ser	rs770789988	missense variant	-	NC_000012.12:g.124362165C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1021Arg	rs770789988	missense variant	-	NC_000012.12:g.124362165C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1021Asp	rs746715560	missense variant	-	NC_000012.12:g.124362164C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1024Gly	rs1453243733	missense variant	-	NC_000012.12:g.124362156T>C	TOPMed
NCOR2	Q9Y618	p.Pro1026Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124362150G>A	NCI-TCGA
NCOR2	Q9Y618	p.Pro1026Leu	rs199754396	missense variant	-	NC_000012.12:g.124362149G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1029Leu	rs113842117	missense variant	-	NC_000012.12:g.124362140G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1029Ala	rs778546006	missense variant	-	NC_000012.12:g.124362141G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1029Ser	rs778546006	missense variant	-	NC_000012.12:g.124362141G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1030Thr	rs536539471	missense variant	-	NC_000012.12:g.124362138C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1030Thr	rs536539471	missense variant	-	NC_000012.12:g.124362138C>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asp1031Asn	rs751853167	missense variant	-	NC_000012.12:g.124362135C>T	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asp1031Asn	rs751853167	missense variant	-	NC_000012.12:g.124362135C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1032Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124362130C>G	NCI-TCGA
NCOR2	Q9Y618	p.Lys1032Arg	rs764725873	missense variant	-	NC_000012.12:g.124362131T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1032Thr	rs764725873	missense variant	-	NC_000012.12:g.124362131T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1034Asp	rs758743334	missense variant	-	NC_000012.12:g.124356782G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Phe1035Val	rs764940434	missense variant	-	NC_000012.12:g.124356780A>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1036Ser	rs139960265	missense variant	-	NC_000012.12:g.124356777C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1036Thr	rs139960265	missense variant	-	NC_000012.12:g.124356777C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1038Lys	rs531931569	missense variant	-	NC_000012.12:g.124356771C>T	1000Genomes,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1041Thr	rs760784859	missense variant	-	NC_000012.12:g.124356761T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1041Glu	rs564703466	missense variant	-	NC_000012.12:g.124356762T>C	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Lys1041Arg	rs760784859	missense variant	-	NC_000012.12:g.124356761T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1043Arg	rs1293316528	missense variant	-	NC_000012.12:g.124356755G>C	TOPMed
NCOR2	Q9Y618	p.Asp1045His	rs377013062	missense variant	-	NC_000012.12:g.124356750C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1045Val	rs767244603	missense variant	-	NC_000012.12:g.124356749T>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp1045Gly	rs767244603	missense variant	-	NC_000012.12:g.124356749T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1046Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124356746G>A	NCI-TCGA
NCOR2	Q9Y618	p.Pro1047LeuPheSerTerUnkUnk	COSM1359909	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124356743G>-	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1047Arg	rs761630262	missense variant	-	NC_000012.12:g.124356743G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Cys1048LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124356742_124356743insG	NCI-TCGA
NCOR2	Q9Y618	p.Trp1049Gly	rs774440340	missense variant	-	NC_000012.12:g.124356738A>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1050Ser	rs1444650436	missense variant	-	NC_000012.12:g.124356734G>C	gnomAD
NCOR2	Q9Y618	p.Thr1050Ala	rs768705220	missense variant	-	NC_000012.12:g.124356735T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1052Ser	rs570351609	missense variant	-	NC_000012.12:g.124356729C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Phe1055Leu	rs745530821	missense variant	-	NC_000012.12:g.124356720A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1056Ser	COSM3457823	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124356717G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Val1057Met	rs572797192	missense variant	-	NC_000012.12:g.124356714C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1058Leu	rs369021070	missense variant	-	NC_000012.12:g.124356710G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1058Arg	rs369021070	missense variant	-	NC_000012.12:g.124356710G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1058Thr	rs1248454638	missense variant	-	NC_000012.12:g.124356711G>T	gnomAD
NCOR2	Q9Y618	p.Pro1058His	rs369021070	missense variant	-	NC_000012.12:g.124356710G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1059Leu	rs200662620	missense variant	-	NC_000012.12:g.124356707G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1059Ala	rs1197179545	missense variant	-	NC_000012.12:g.124356708G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1059His	rs200662620	missense variant	-	NC_000012.12:g.124356707G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1059Arg	rs200662620	missense variant	-	NC_000012.12:g.124356707G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1060His	rs199595579	missense variant	-	NC_000012.12:g.124356704C>T	1000Genomes,ESP,ExAC,TOPMed
NCOR2	Q9Y618	p.Arg1060Cys	rs372982176	missense variant	-	NC_000012.12:g.124356705G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1060ValPheSerTerUnk	rs771862790	frameshift	-	NC_000012.12:g.124356705G>-	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Val1062Gly	rs1376129058	missense variant	-	NC_000012.12:g.124356698A>C	gnomAD
NCOR2	Q9Y618	p.Ile1063Thr	rs1409549593	missense variant	-	NC_000012.12:g.124356695A>G	gnomAD
NCOR2	Q9Y618	p.Ile1063Val	rs767718046	missense variant	-	NC_000012.12:g.124356696T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys1064Thr	rs1369108347	missense variant	-	NC_000012.12:g.124356692T>G	gnomAD
NCOR2	Q9Y618	p.Ala1065Pro	rs2271137	missense variant	-	NC_000012.12:g.124356690C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1065Val	rs373373798	missense variant	-	NC_000012.12:g.124356689G>A	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1065Thr	rs2271137	missense variant	-	NC_000012.12:g.124356690C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1065Ser	rs2271137	missense variant	-	NC_000012.12:g.124356690C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1066Phe	COSM692416	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124356686G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1067Leu	rs775451734	missense variant	-	NC_000012.12:g.124356683G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1067Gln	rs775451734	missense variant	-	NC_000012.12:g.124356683G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1068Arg	rs776161756	missense variant	-	NC_000012.12:g.124356680T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1069Val	rs770557834	missense variant	-	NC_000012.12:g.124356677G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1070Ser	COSM6015239	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124356675G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1070Leu	rs748552524	missense variant	-	NC_000012.12:g.124356674G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp1071Glu	rs1223030339	missense variant	-	NC_000012.12:g.124356670G>C	gnomAD
NCOR2	Q9Y618	p.Asp1071Gly	rs768958793	missense variant	-	NC_000012.12:g.124356671T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1072Leu	rs1016525144	missense variant	-	NC_000012.12:g.124356668G>A	TOPMed
NCOR2	Q9Y618	p.Ala1074Ser	rs780540004	missense variant	-	NC_000012.12:g.124356663C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1076Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124356656G>A	NCI-TCGA
NCOR2	Q9Y618	p.Ser1076Tyr	rs1219415121	missense variant	-	NC_000012.12:g.124356656G>T	gnomAD
NCOR2	Q9Y618	p.Tyr1077Cys	rs767966944	missense variant	-	NC_000012.12:g.124356653T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1078Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124356651C>A	NCI-TCGA
NCOR2	Q9Y618	p.Ala1078Thr	rs781631837	missense variant	-	NC_000012.12:g.124356651C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1081Asp	rs912017443	missense variant	-	NC_000012.12:g.124355571C>T	gnomAD
NCOR2	Q9Y618	p.His1082Tyr	COSM3871055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124355569G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1083Leu	rs767140612	missense variant	-	NC_000012.12:g.124355565G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1083Ala	rs1463622357	missense variant	-	NC_000012.12:g.124355566G>C	gnomAD
NCOR2	Q9Y618	p.Pro1083Ser	rs1463622357	missense variant	-	NC_000012.12:g.124355566G>A	gnomAD
NCOR2	Q9Y618	p.Pro1085Leu	rs1204876008	missense variant	-	NC_000012.12:g.124355559G>A	gnomAD
NCOR2	Q9Y618	p.Gly1087Asp	rs1230144910	missense variant	-	NC_000012.12:g.124355553C>T	gnomAD
NCOR2	Q9Y618	p.Gly1087Val	rs1230144910	missense variant	-	NC_000012.12:g.124355553C>A	gnomAD
NCOR2	Q9Y618	p.Leu1088His	rs775897175	missense variant	-	NC_000012.12:g.124355550A>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1088Phe	rs1210041700	missense variant	-	NC_000012.12:g.124355551G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1090Tyr	rs1296457042	missense variant	-	NC_000012.12:g.124355545C>A	gnomAD
NCOR2	Q9Y618	p.Thr1091Ile	rs1384383330	missense variant	-	NC_000012.12:g.124355541G>A	gnomAD
NCOR2	Q9Y618	p.Ala1092Val	rs201324168	missense variant	-	NC_000012.12:g.124355538G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1093Gln	rs531971575	missense variant	-	NC_000012.12:g.124355535C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1093Trp	rs370852815	missense variant	-	NC_000012.12:g.124355536G>A	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1094Ser	rs778200220	missense variant	-	NC_000012.12:g.124355533G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Val1095Ile	rs199761768	missense variant	-	NC_000012.12:g.124355530C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1095Phe	rs199761768	missense variant	-	NC_000012.12:g.124355530C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1097Leu	rs530717643	missense variant	-	NC_000012.12:g.124355523G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1098Gly	rs370396690	missense variant	-	NC_000012.12:g.124355521G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1098His	rs375804883	missense variant	-	NC_000012.12:g.124355520C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1098Leu	rs375804883	missense variant	-	NC_000012.12:g.124355520C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1098Cys	rs370396690	missense variant	-	NC_000012.12:g.124355521G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1099Leu	rs1483601154	missense variant	-	NC_000012.12:g.124355517G>A	gnomAD
NCOR2	Q9Y618	p.Ile1102Val	rs749926513	missense variant	-	NC_000012.12:g.124355509T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1103Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124355505G>A	NCI-TCGA
NCOR2	Q9Y618	p.Ser1103Cys	rs767111739	missense variant	-	NC_000012.12:g.124355505G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Asn1104Ser	rs982236332	missense variant	-	NC_000012.12:g.124355502T>C	gnomAD
NCOR2	Q9Y618	p.Asn1104Asp	rs1290185761	missense variant	-	NC_000012.12:g.124355503T>C	TOPMed
NCOR2	Q9Y618	p.Pro1105Leu	rs761508712	missense variant	-	NC_000012.12:g.124355499G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1107Ser	rs1243490006	missense variant	-	NC_000012.12:g.124355494G>A	gnomAD
NCOR2	Q9Y618	p.Pro1107Leu	rs770903876	missense variant	-	NC_000012.12:g.124355493G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1108Phe	rs771552958	missense variant	-	NC_000012.12:g.124355491G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1110Tyr	rs1307578131	missense variant	-	NC_000012.12:g.124355484G>T	gnomAD
NCOR2	Q9Y618	p.Ala1112Val	rs1367743519	missense variant	-	NC_000012.12:g.124355478G>A	gnomAD
NCOR2	Q9Y618	p.His1114Tyr	rs1163879883	missense variant	-	NC_000012.12:g.124355473G>A	gnomAD
NCOR2	Q9Y618	p.Pro1115Ser	rs771995389	missense variant	-	NC_000012.12:g.124355470G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1116Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124355466C>A	NCI-TCGA
NCOR2	Q9Y618	p.Ser1116Gly	rs1014850699	missense variant	-	NC_000012.12:g.124355467T>C	TOPMed
NCOR2	Q9Y618	p.Val1117Ile	rs190767010	missense variant	-	NC_000012.12:g.124355464C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Leu1118Val	rs768508380	missense variant	-	NC_000012.12:g.124355461G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu1119Ala	rs780028873	missense variant	-	NC_000012.12:g.124355457T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1119Lys	rs1290192051	missense variant	-	NC_000012.12:g.124355458C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln1121His	rs749987781	missense variant	-	NC_000012.12:g.124355450T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1124Val	COSM5086746	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124355442G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ala1124Ser	rs1416393956	missense variant	-	NC_000012.12:g.124355443C>A	gnomAD
NCOR2	Q9Y618	p.Ile1125Ser	rs780781004	missense variant	-	NC_000012.12:g.124355439A>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Met1129Ile	rs769533262	missense variant	-	NC_000012.12:g.124354934C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Met1129Ile	rs769533262	missense variant	-	NC_000012.12:g.124354934C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1130Leu	rs745840872	missense variant	-	NC_000012.12:g.124354932G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1133Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124354923A>C	NCI-TCGA
NCOR2	Q9Y618	p.His1134Tyr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124354921G>A	NCI-TCGA
NCOR2	Q9Y618	p.Val1135Ile	rs369600049	missense variant	-	NC_000012.12:g.124354918C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1136Ser	COSM3457819	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354915G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1136Leu	rs766879930	missense variant	-	NC_000012.12:g.124354914G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1136Gln	rs766879930	missense variant	-	NC_000012.12:g.124354914G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr1137Ter	rs767895310	stop gained	-	NC_000012.12:g.124354910G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1141Thr	rs762017338	missense variant	-	NC_000012.12:g.124354900C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys1142Arg	rs1243529923	missense variant	-	NC_000012.12:g.124354896T>C	gnomAD
NCOR2	Q9Y618	p.Pro1144Thr	rs764345636	missense variant	-	NC_000012.12:g.124354891G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1144Leu	rs763188702	missense variant	-	NC_000012.12:g.124354890G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1144Ser	rs764345636	missense variant	-	NC_000012.12:g.124354891G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1146Ser	rs1312773415	missense variant	-	NC_000012.12:g.124354885C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1146Cys	rs1312773415	missense variant	-	NC_000012.12:g.124354885C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1146Val	rs1204164507	missense variant	-	NC_000012.12:g.124354884C>A	gnomAD
NCOR2	Q9Y618	p.Val1148Ile	COSM936723	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354879C>T	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Thr1149Ile	rs770771093	missense variant	-	NC_000012.12:g.124354875G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met1150Ile	COSM692424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354871C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Met1150Leu	COSM692422	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354873T>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Met1150Ile	rs746569521	missense variant	-	NC_000012.12:g.124354871C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1151Ala	rs1339847749	missense variant	-	NC_000012.12:g.124354869C>G	gnomAD
NCOR2	Q9Y618	p.Pro1153Ser	rs747807076	missense variant	-	NC_000012.12:g.124354864G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1153Thr	rs747807076	missense variant	-	NC_000012.12:g.124354864G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Met1156Val	rs778648175	missense variant	-	NC_000012.12:g.124354855T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1158Ala	rs1250252045	missense variant	-	NC_000012.12:g.124354849G>C	TOPMed
NCOR2	Q9Y618	p.Pro1158Thr	rs1250252045	missense variant	-	NC_000012.12:g.124354849G>T	TOPMed
NCOR2	Q9Y618	p.Lys1159Arg	rs781741167	missense variant	-	NC_000012.12:g.124354845T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys1160SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124354842T>-	NCI-TCGA
NCOR2	Q9Y618	p.Leu1161Pro	COSM5134814	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124354839A>G	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1163Thr	rs1297292126	missense variant	-	NC_000012.12:g.124354580G>T	TOPMed
NCOR2	Q9Y618	p.Phe1164Leu	rs375500659	missense variant	-	NC_000012.12:g.124354575G>C	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1165Asn	rs759513912	missense variant	-	NC_000012.12:g.124354573C>T	gnomAD
NCOR2	Q9Y618	p.Gly1166Glu	rs1458737200	missense variant	-	NC_000012.12:g.124354570C>T	gnomAD
NCOR2	Q9Y618	p.Gly1166Arg	rs773974343	missense variant	-	NC_000012.12:g.124354571C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1166Arg	rs773974343	missense variant	-	NC_000012.12:g.124354571C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1167Met	rs1412678311	missense variant	-	NC_000012.12:g.124354568C>T	gnomAD
NCOR2	Q9Y618	p.Pro1174Leu	rs1249819980	missense variant	-	NC_000012.12:g.124354546G>A	gnomAD
NCOR2	Q9Y618	p.Pro1174Ser	rs936308085	missense variant	-	NC_000012.12:g.124354547G>A	TOPMed
NCOR2	Q9Y618	p.Arg1175Gln	rs748921061	missense variant	-	NC_000012.12:g.124354543C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1175Trp	rs768160039	missense variant	-	NC_000012.12:g.124354544G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1179Glu	rs1264929037	missense variant	-	NC_000012.12:g.124354531C>T	gnomAD
NCOR2	Q9Y618	p.Pro1181Leu	rs200304507	missense variant	-	NC_000012.12:g.124354525G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1181Gln	rs200304507	missense variant	-	NC_000012.12:g.124354525G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1183Asn	rs1302865131	missense variant	-	NC_000012.12:g.124354519C>T	gnomAD
NCOR2	Q9Y618	p.Leu1184Val	rs778988037	missense variant	-	NC_000012.12:g.124354517G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1185Arg	rs373657866	missense variant	-	NC_000012.12:g.124354514C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1186Leu	rs754019236	missense variant	-	NC_000012.12:g.124354511C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1187Ala	rs766608358	missense variant	-	NC_000012.12:g.124354508G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1187Arg	rs1158356212	missense variant	-	NC_000012.12:g.124354507G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1188Ile	rs1455385050	missense variant	-	NC_000012.12:g.124354504G>A	gnomAD
NCOR2	Q9Y618	p.Ala1192Val	rs767609175	missense variant	-	NC_000012.12:g.124354492G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1192Ser	rs750211341	missense variant	-	NC_000012.12:g.124354493C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Val1194Leu	rs201788687	missense variant	-	NC_000012.12:g.124354487C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1194Met	rs201788687	missense variant	-	NC_000012.12:g.124354487C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1197Ala	rs764847497	missense variant	-	NC_000012.12:g.124354196C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1197Arg	rs1258121083	missense variant	-	NC_000012.12:g.124354478C>G	gnomAD
NCOR2	Q9Y618	p.Ala1199Ser	rs537105801	missense variant	-	NC_000012.12:g.124354191C>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1201Asp	rs1273511849	missense variant	-	NC_000012.12:g.124354184C>T	gnomAD
NCOR2	Q9Y618	p.Val1203Ala	rs776228733	missense variant	-	NC_000012.12:g.124354178A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Val1203Ile	rs1483790550	missense variant	-	NC_000012.12:g.124354179C>T	TOPMed
NCOR2	Q9Y618	p.Pro1204Thr	rs1177416140	missense variant	-	NC_000012.12:g.124354176G>T	TOPMed
NCOR2	Q9Y618	p.Pro1204Leu	rs200115581	missense variant	-	NC_000012.12:g.124354175G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1206Arg	rs780200698	missense variant	-	NC_000012.12:g.124354170C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1209Ile	rs142487031	missense variant	-	NC_000012.12:g.124354160G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1212Phe	rs781503622	missense variant	-	NC_000012.12:g.124354152T>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile1212Val	rs781503622	missense variant	-	NC_000012.12:g.124354152T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1213Ser	rs1307681469	missense variant	-	NC_000012.12:g.124354149G>A	gnomAD
NCOR2	Q9Y618	p.Arg1216Trp	rs1408213259	missense variant	-	NC_000012.12:g.124354140G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1216Gln	rs377739293	missense variant	-	NC_000012.12:g.124354139C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1218Leu	rs1457824712	missense variant	-	NC_000012.12:g.124354133G>A	gnomAD
NCOR2	Q9Y618	p.Ser1219Leu	rs909322345	missense variant	-	NC_000012.12:g.124354130G>A	TOPMed
NCOR2	Q9Y618	p.Asp1220Glu	rs1384812285	missense variant	-	NC_000012.12:g.124354126G>C	TOPMed
NCOR2	Q9Y618	p.Ser1221Gly	rs751369768	missense variant	-	NC_000012.12:g.124354125T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1222Thr	rs758335588	missense variant	-	NC_000012.12:g.124354122C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1224Ala	rs983428446	missense variant	-	NC_000012.12:g.124354116T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr1225His	rs1204612218	missense variant	-	NC_000012.12:g.124354113A>G	TOPMed
NCOR2	Q9Y618	p.Tyr1225Cys	rs1208772467	missense variant	-	NC_000012.12:g.124354112T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1226His	rs184942554	missense variant	-	NC_000012.12:g.124354109C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1226Cys	rs764760107	missense variant	-	NC_000012.12:g.124354110G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1226Ser	rs764760107	missense variant	-	NC_000012.12:g.124354110G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1227Ser	rs762205450	missense variant	-	NC_000012.12:g.124354107C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1227Cys	rs762205450	missense variant	-	NC_000012.12:g.124354107C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.His1231Tyr	rs774754353	missense variant	-	NC_000012.12:g.124354095G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1232Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124350737C>G	NCI-TCGA
NCOR2	Q9Y618	p.Thr1233Ser	rs1299888252	missense variant	-	NC_000012.12:g.124350734T>A	gnomAD
NCOR2	Q9Y618	p.Thr1233Met	rs200297509	missense variant	-	NC_000012.12:g.124350733G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1233Lys	rs200297509	missense variant	-	NC_000012.12:g.124350733G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1234Thr	rs1361820781	missense variant	-	NC_000012.12:g.124350731G>T	gnomAD
NCOR2	Q9Y618	p.Pro1234Arg	rs1467176568	missense variant	-	NC_000012.12:g.124350730G>C	TOPMed
NCOR2	Q9Y618	p.Ala1235Pro	rs754887514	missense variant	-	NC_000012.12:g.124350728C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1235Thr	rs754887514	missense variant	-	NC_000012.12:g.124350728C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp1236Val	rs749174849	missense variant	-	NC_000012.12:g.124350724T>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1237Ile	rs755508738	missense variant	-	NC_000012.12:g.124350722C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1238Pro	rs750101439	missense variant	-	NC_000012.12:g.124350718A>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1240Gln	rs1168626584	missense variant	-	NC_000012.12:g.124350713T>G	gnomAD
NCOR2	Q9Y618	p.Gly1241Ser	rs1428568878	missense variant	-	NC_000012.12:g.124350710C>T	gnomAD
NCOR2	Q9Y618	p.Thr1244Ala	rs753083702	missense variant	-	NC_000012.12:g.124350701T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1245Ser	rs1236663114	missense variant	-	NC_000012.12:g.124350696C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1247Val	rs765898416	missense variant	-	NC_000012.12:g.124350692T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1248Ser	rs777238561	missense variant	-	NC_000012.12:g.124350689C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1249Lys	rs201817923	missense variant	-	NC_000012.12:g.124350686C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1251Cys	rs773542363	missense variant	-	NC_000012.12:g.124350680T>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1252Leu	rs371001060	missense variant	-	NC_000012.12:g.124350676G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1252Arg	rs371001060	missense variant	-	NC_000012.12:g.124350676G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1254His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124350670C>T	NCI-TCGA
NCOR2	Q9Y618	p.Arg1254Ser	rs202111746	missense variant	-	NC_000012.12:g.124350671G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1254Cys	rs202111746	missense variant	-	NC_000012.12:g.124350671G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1254Leu	rs374662581	missense variant	-	NC_000012.12:g.124350670C>A	ESP,gnomAD
NCOR2	Q9Y618	p.Leu1255Ser	rs1004460475	missense variant	-	NC_000012.12:g.124350667A>G	TOPMed
NCOR2	Q9Y618	p.Leu1255Phe	rs76063811	missense variant	-	NC_000012.12:g.124350666C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1256Tyr	rs1460987551	missense variant	-	NC_000012.12:g.124350665C>A	gnomAD
NCOR2	Q9Y618	p.Asp1256Glu	rs138508287	missense variant	-	NC_000012.12:g.124350663G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1257His	rs780940395	missense variant	-	NC_000012.12:g.124350661C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1257Cys	rs199979566	missense variant	-	NC_000012.12:g.124350662G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1257Leu	rs780940395	missense variant	-	NC_000012.12:g.124350661C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1258Asp	rs1473462264	missense variant	-	NC_000012.12:g.124350658C>T	gnomAD
NCOR2	Q9Y618	p.Gly1258Ser	rs202002288	missense variant	-	NC_000012.12:g.124350659C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1258Cys	rs202002288	missense variant	-	NC_000012.12:g.124350659C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1259Gly	rs373295499	missense variant	-	NC_000012.12:g.124350656G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1259Gln	rs1183168054	missense variant	-	NC_000012.12:g.124350655C>T	gnomAD
NCOR2	Q9Y618	p.Arg1259Trp	rs373295499	missense variant	-	NC_000012.12:g.124350656G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1260Lys	rs1342777206	missense variant	-	NC_000012.12:g.124350653C>T	TOPMed
NCOR2	Q9Y618	p.Asp1261Gly	rs1231228001	missense variant	-	NC_000012.12:g.124350649T>C	gnomAD
NCOR2	Q9Y618	p.Pro1264Ala	rs766785477	missense variant	-	NC_000012.12:g.124350641G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys1265Gln	rs750445664	missense variant	-	NC_000012.12:g.124350638T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1265Glu	rs750445664	missense variant	-	NC_000012.12:g.124350638T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1266Asp	rs1331668425	missense variant	-	NC_000012.12:g.124350634C>T	gnomAD
NCOR2	Q9Y618	p.Gly1266Ser	rs369217542	missense variant	-	NC_000012.12:g.124350635C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1267Gln	rs762053857	missense variant	-	NC_000012.12:g.124350630G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Val1268Ile	rs575622579	missense variant	-	NC_000012.12:g.124350629C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr1270Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.124350621G>C	NCI-TCGA
NCOR2	Q9Y618	p.Lys1273GlnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124350615_124350616insC	NCI-TCGA
NCOR2	Q9Y618	p.Lys1273Thr	rs1294739266	missense variant	-	NC_000012.12:g.124350613T>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1273Arg	rs1294739266	missense variant	-	NC_000012.12:g.124350613T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.His1276Pro	rs1260699909	missense variant	-	NC_000012.12:g.124350604T>G	TOPMed
NCOR2	Q9Y618	p.His1276Tyr	rs762719883	missense variant	-	NC_000012.12:g.124350605G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Val1277Ile	rs753818416	missense variant	-	NC_000012.12:g.124350602C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr1280Cys	rs745435680	missense variant	-	NC_000012.12:g.124350592T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu1281Lys	rs1406103274	missense variant	-	NC_000012.12:g.124350590C>T	gnomAD
NCOR2	Q9Y618	p.Glu1281Asp	rs1192944527	missense variant	-	NC_000012.12:g.124350588C>A	gnomAD
NCOR2	Q9Y618	p.Gly1282Asp	rs372325371	missense variant	-	NC_000012.12:g.124348314C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1282Val	rs372325371	missense variant	-	NC_000012.12:g.124348314C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1282Ser	rs1164923155	missense variant	-	NC_000012.12:g.124350587C>T	TOPMed
NCOR2	Q9Y618	p.Gly1283Asp	rs1380247557	missense variant	-	NC_000012.12:g.124348311C>T	gnomAD
NCOR2	Q9Y618	p.Met1284Thr	rs1394058350	missense variant	-	NC_000012.12:g.124348308A>G	TOPMed
NCOR2	Q9Y618	p.Ser1285Cys	rs1303276160	missense variant	-	NC_000012.12:g.124348305G>C	gnomAD
NCOR2	Q9Y618	p.Ser1290Phe	rs981026802	missense variant	-	NC_000012.12:g.124348290G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1291Thr	rs781712160	missense variant	-	NC_000012.12:g.124348287T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1293Asn	rs1482395355	missense variant	-	NC_000012.12:g.124348282C>T	gnomAD
NCOR2	Q9Y618	p.Asp1293Gly	rs1171797655	missense variant	-	NC_000012.12:g.124348281T>C	gnomAD
NCOR2	Q9Y618	p.Gly1294Asp	rs758644470	missense variant	-	NC_000012.12:g.124348278C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1294Ser	rs201631835	missense variant	-	NC_000012.12:g.124348279C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1294Cys	rs201631835	missense variant	-	NC_000012.12:g.124348279C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1295SerPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124348274_124348275insTTCTTACGTGTTTTGAA	NCI-TCGA
NCOR2	Q9Y618	p.Arg1295Gly	rs752927482	missense variant	-	NC_000012.12:g.124348276T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1300Leu	rs553946803	missense variant	-	NC_000012.12:g.124348260G>A	1000Genomes,gnomAD
NCOR2	Q9Y618	p.Pro1301Leu	rs561193208	missense variant	-	NC_000012.12:g.124348257G>A	gnomAD
NCOR2	Q9Y618	p.Pro1301Arg	rs561193208	missense variant	-	NC_000012.12:g.124348257G>C	gnomAD
NCOR2	Q9Y618	p.His1302MetPheSerTerUnkUnk	COSM2226980	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124348255G>-	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.His1302Gln	rs993806028	missense variant	-	NC_000012.12:g.124348253A>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.His1302ProPheSerTerUnk	rs768164546	frameshift	-	NC_000012.12:g.124348254_124348255insG	NCI-TCGA,NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu1303Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124348252C>T	NCI-TCGA
NCOR2	Q9Y618	p.Thr1304Ser	COSM6071594	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124348249T>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Thr1304Met	rs186612391	missense variant	-	NC_000012.12:g.124348248G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1306Thr	rs200025110	missense variant	-	NC_000012.12:g.124348243C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1307Arg	rs760303332	missense variant	-	NC_000012.12:g.124348239G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys1308SerPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124348238G>-	NCI-TCGA
NCOR2	Q9Y618	p.Lys1308Arg	rs772869612	missense variant	-	NC_000012.12:g.124348236T>C	ExAC
NCOR2	Q9Y618	p.Arg1309His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124348233C>T	NCI-TCGA
NCOR2	Q9Y618	p.Arg1309Gly	rs771667242	missense variant	-	NC_000012.12:g.124348234G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1309Cys	rs771667242	missense variant	-	NC_000012.12:g.124348234G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr1311Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124348228A>T	NCI-TCGA
NCOR2	Q9Y618	p.Tyr1311His	rs938640240	missense variant	-	NC_000012.12:g.124348228A>G	gnomAD
NCOR2	Q9Y618	p.Met1313Val	rs771905073	missense variant	-	NC_000012.12:g.124348222T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1316Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124348212C>T	NCI-TCGA
NCOR2	Q9Y618	p.Gly1316Ser	rs1311309109	missense variant	-	NC_000012.12:g.124348213C>T	gnomAD
NCOR2	Q9Y618	p.Arg1317Cys	rs963241705	missense variant	-	NC_000012.12:g.124348210G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1317His	rs770110676	missense variant	-	NC_000012.12:g.124348209C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1317Ser	rs963241705	missense variant	-	NC_000012.12:g.124348210G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1318Met	rs201804156	missense variant	-	NC_000012.12:g.124348207C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1319Asp	rs1166043371	missense variant	-	NC_000012.12:g.124348203C>T	gnomAD
NCOR2	Q9Y618	p.Arg1320Lys	rs537038342	missense variant	-	NC_000012.12:g.124348200C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1321Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124348197G>A	NCI-TCGA
NCOR2	Q9Y618	p.Ala1321Pro	rs747469159	missense variant	-	NC_000012.12:g.124348198C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1321Thr	rs747469159	missense variant	-	NC_000012.12:g.124348198C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1322Thr	rs1352318167	missense variant	-	NC_000012.12:g.124348194A>G	TOPMed
NCOR2	Q9Y618	p.Ile1322Val	rs777864841	missense variant	-	NC_000012.12:g.124348195T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1323Phe	rs570066332	missense variant	-	NC_000012.12:g.124348191G>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1325Gly	rs1211830666	missense variant	-	NC_000012.12:g.124348185G>C	TOPMed
NCOR2	Q9Y618	p.Ala1325Thr	rs765484301	missense variant	-	NC_000012.12:g.124348186C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1325Pro	rs765484301	missense variant	-	NC_000012.12:g.124348186C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1326Asn	COSM4039905	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124348182C>T	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ser1326Arg	rs551561067	missense variant	-	NC_000012.12:g.124348181G>C	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Glu1328Gln	rs1273765643	missense variant	-	NC_000012.12:g.124348177C>G	gnomAD
NCOR2	Q9Y618	p.Glu1328Lys	COSM1677462	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124348177C>T	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Gly1329Asp	rs773779630	missense variant	-	NC_000012.12:g.124347911C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu1330Val	rs772604310	missense variant	-	NC_000012.12:g.124347909G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met1331Thr	rs779078857	missense variant	-	NC_000012.12:g.124347905A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Met1331Arg	rs779078857	missense variant	-	NC_000012.12:g.124347905A>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Met1331Val	rs1456420392	missense variant	-	NC_000012.12:g.124347906T>C	gnomAD
NCOR2	Q9Y618	p.Gly1332Arg	rs768549126	missense variant	-	NC_000012.12:g.124347903C>G	ExAC,TOPMed
NCOR2	Q9Y618	p.Gly1332Asp	rs1281085672	missense variant	-	NC_000012.12:g.124347902C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1332Cys	rs768549126	missense variant	-	NC_000012.12:g.124347903C>A	ExAC,TOPMed
NCOR2	Q9Y618	p.Arg1333His	rs562298385	missense variant	-	NC_000012.12:g.124347899C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1333Cys	rs372951859	missense variant	-	NC_000012.12:g.124347900G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1333Ser	rs372951859	missense variant	-	NC_000012.12:g.124347900G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1336Leu	COSM3688037	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124347890G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1336Ser	rs1431852599	missense variant	-	NC_000012.12:g.124347891G>A	gnomAD
NCOR2	Q9Y618	p.Pro1337Leu	rs961135055	missense variant	-	NC_000012.12:g.124347887G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1339Gln	rs757239625	missense variant	-	NC_000012.12:g.124347881C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1341Asn	rs1432352325	missense variant	-	NC_000012.12:g.124347875C>T	gnomAD
NCOR2	Q9Y618	p.Pro1342Ser	rs1187033227	missense variant	-	NC_000012.12:g.124347873G>A	gnomAD
NCOR2	Q9Y618	p.His1343Pro	rs1344512385	missense variant	-	NC_000012.12:g.124347869T>G	TOPMed
NCOR2	Q9Y618	p.His1344Tyr	rs1475075843	missense variant	-	NC_000012.12:g.124347867G>A	gnomAD
NCOR2	Q9Y618	p.His1344Pro	rs918629525	missense variant	-	NC_000012.12:g.124347866T>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1345Phe	rs1486752192	missense variant	-	NC_000012.12:g.124347864G>A	gnomAD
NCOR2	Q9Y618	p.Glu1347Gly	rs1210176355	missense variant	-	NC_000012.12:g.124347857T>C	gnomAD
NCOR2	Q9Y618	p.His1349Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124347850G>T	NCI-TCGA
NCOR2	Q9Y618	p.His1350Arg	rs369478272	missense variant	-	NC_000012.12:g.124347848T>C	ESP,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1351Val	rs762312602	missense variant	-	NC_000012.12:g.124347846T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1352Cys	rs1215655648	missense variant	-	NC_000012.12:g.124347843G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1352His	rs36081651	missense variant	-	NC_000012.12:g.124347842C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1353Glu	rs1355644463	missense variant	-	NC_000012.12:g.124347839C>T	gnomAD
NCOR2	Q9Y618	p.Gly1353Arg	rs1417045078	missense variant	-	NC_000012.12:g.124347840C>T	gnomAD
NCOR2	Q9Y618	p.Ile1355Val	rs1412614764	missense variant	-	NC_000012.12:g.124347834T>C	gnomAD
NCOR2	Q9Y618	p.Gln1357Glu	rs931860635	missense variant	-	NC_000012.12:g.124347828G>C	TOPMed
NCOR2	Q9Y618	p.Gly1358Arg	rs1477466735	missense variant	-	NC_000012.12:g.124347825C>T	TOPMed
NCOR2	Q9Y618	p.Arg1361Trp	rs1455175196	missense variant	-	NC_000012.12:g.124346842G>A	gnomAD
NCOR2	Q9Y618	p.Arg1361Pro	rs753419084	missense variant	-	NC_000012.12:g.124346841C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1362Phe	rs1418778916	missense variant	-	NC_000012.12:g.124346838G>A	gnomAD
NCOR2	Q9Y618	p.Tyr1363Cys	rs1378527765	missense variant	-	NC_000012.12:g.124346835T>C	gnomAD
NCOR2	Q9Y618	p.Val1364Met	rs577005727	missense variant	-	NC_000012.12:g.124346833C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1364Ala	rs774985221	missense variant	-	NC_000012.12:g.124346832A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu1365Asp	rs763173120	missense variant	-	NC_000012.12:g.124346828C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1368Lys	rs1261746365	missense variant	-	NC_000012.12:g.124346821C>T	gnomAD
NCOR2	Q9Y618	p.Asp1369Tyr	rs775732832	missense variant	-	NC_000012.12:g.124346818C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1369Gly	rs1314818650	missense variant	-	NC_000012.12:g.124346817T>C	gnomAD
NCOR2	Q9Y618	p.Tyr1370Cys	rs1281806775	missense variant	-	NC_000012.12:g.124346814T>C	gnomAD
NCOR2	Q9Y618	p.Arg1372His	rs748581002	missense variant	-	NC_000012.12:g.124346808C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1373Trp	rs376819174	missense variant	-	NC_000012.12:g.124346806G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1373Leu	rs746775179	missense variant	-	NC_000012.12:g.124346805C>A	ExAC
NCOR2	Q9Y618	p.Arg1373Gln	rs746775179	missense variant	-	NC_000012.12:g.124346805C>T	ExAC
NCOR2	Q9Y618	p.Glu1374Asp	rs1288120830	missense variant	-	NC_000012.12:g.124346801C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1377His	rs1358897644	missense variant	-	NC_000012.12:g.124346793A>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1377Phe	rs1453281999	missense variant	-	NC_000012.12:g.124346794G>A	gnomAD
NCOR2	Q9Y618	p.Leu1377Pro	rs1358897644	missense variant	-	NC_000012.12:g.124346793A>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1380Trp	rs1294600225	missense variant	-	NC_000012.12:g.124346785G>A	TOPMed
NCOR2	Q9Y618	p.Arg1380Pro	rs372172146	missense variant	-	NC_000012.12:g.124346784C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1380Gln	rs372172146	missense variant	-	NC_000012.12:g.124346784C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1381Ala	rs1394930860	missense variant	-	NC_000012.12:g.124346781T>G	gnomAD
NCOR2	Q9Y618	p.Glu1381Lys	rs748031692	missense variant	-	NC_000012.12:g.124346782C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1383Ser	rs984709723	missense variant	-	NC_000012.12:g.124346776T>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1383Met	rs1262846123	missense variant	-	NC_000012.12:g.124346775G>A	gnomAD
NCOR2	Q9Y618	p.Pro1384Arg	rs1484667878	missense variant	-	NC_000012.12:g.124346772G>C	gnomAD
NCOR2	Q9Y618	p.Pro1385Leu	rs753582344	missense variant	-	NC_000012.12:g.124346769G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1386Ser	rs1004180765	missense variant	-	NC_000012.12:g.124346767G>A	gnomAD
NCOR2	Q9Y618	p.Pro1386His	rs757675812	missense variant	-	NC_000012.12:g.124346766G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1387Ser	rs1308047345	missense variant	-	NC_000012.12:g.124346764G>A	gnomAD
NCOR2	Q9Y618	p.Pro1388Thr	rs764503618	missense variant	-	NC_000012.12:g.124346761G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1388Leu	rs763585077	missense variant	-	NC_000012.12:g.124346760G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1391Gln	rs1374909069	missense variant	-	NC_000012.12:g.124346751C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1391Trp	rs759677157	missense variant	-	NC_000012.12:g.124346752G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1394Ala	rs1463955435	missense variant	-	NC_000012.12:g.124346743T>C	gnomAD
NCOR2	Q9Y618	p.Glu1395Lys	rs1170132510	missense variant	-	NC_000012.12:g.124346740C>T	gnomAD
NCOR2	Q9Y618	p.Ala1396Thr	rs1430775402	missense variant	-	NC_000012.12:g.124346737C>T	TOPMed
NCOR2	Q9Y618	p.Tyr1397Phe	rs1477054953	missense variant	-	NC_000012.12:g.124346733T>A	gnomAD
NCOR2	Q9Y618	p.Lys1398Arg	rs772907809	missense variant	-	NC_000012.12:g.124346730T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1399Met	rs115154917	missense variant	-	NC_000012.12:g.124346727G>A	1000Genomes,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1401Ser	rs1197069888	missense variant	-	NC_000012.12:g.124346722C>A	gnomAD
NCOR2	Q9Y618	p.Leu1402Val	rs1250700317	missense variant	-	NC_000012.12:g.124346719G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1404Leu	rs1336665411	missense variant	-	NC_000012.12:g.124346712G>A	gnomAD
NCOR2	Q9Y618	p.Pro1404Ser	rs1224878929	missense variant	-	NC_000012.12:g.124346713G>A	gnomAD
NCOR2	Q9Y618	p.Leu1405Ter	COSM1359899	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124346710G>-	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Leu1407Pro	rs1456935941	missense variant	-	NC_000012.12:g.124346703A>G	TOPMed
NCOR2	Q9Y618	p.Pro1409Leu	rs748088671	missense variant	-	NC_000012.12:g.124346697G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1410Ser	rs748712433	missense variant	-	NC_000012.12:g.124346695C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1410Thr	rs748712433	missense variant	-	NC_000012.12:g.124346695C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1413Asp	rs1298109056	missense variant	-	NC_000012.12:g.124346685C>T	gnomAD
NCOR2	Q9Y618	p.Ala1416Thr	rs540408438	missense variant	-	NC_000012.12:g.124346677C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1417Met	rs755745308	missense variant	-	NC_000012.12:g.124346673G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1421Val	rs1474652241	missense variant	-	NC_000012.12:g.124346661G>A	gnomAD
NCOR2	Q9Y618	p.Arg1423Cys	rs1183274636	missense variant	-	NC_000012.12:g.124346656G>A	gnomAD
NCOR2	Q9Y618	p.Arg1423His	rs758779755	missense variant	-	NC_000012.12:g.124346655C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1426Asp	rs753316257	missense variant	-	NC_000012.12:g.124346647G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.His1426Tyr	rs753316257	missense variant	-	NC_000012.12:g.124346647G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1429Ser	rs1212874179	missense variant	-	NC_000012.12:g.124346638G>A	gnomAD
NCOR2	Q9Y618	p.Pro1429Leu	rs765835703	missense variant	-	NC_000012.12:g.124346637G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1430His	rs766436926	missense variant	-	NC_000012.12:g.124346634C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1430Ser	rs375559461	missense variant	-	NC_000012.12:g.124346635G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1430Cys	rs375559461	missense variant	-	NC_000012.12:g.124346635G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1431Lys	rs773358840	missense variant	-	NC_000012.12:g.124346632C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1433Pro	rs1326939043	missense variant	-	NC_000012.12:g.124346625A>G	gnomAD
NCOR2	Q9Y618	p.Arg1434Trp	rs771909123	missense variant	-	NC_000012.12:g.124346623G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1434Gln	rs1159930182	missense variant	-	NC_000012.12:g.124346622C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1436Ala	rs768554479	missense variant	-	NC_000012.12:g.124346617T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1436Met	rs749200427	missense variant	-	NC_000012.12:g.124346616G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1437Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124346614G>A	NCI-TCGA
NCOR2	Q9Y618	p.Pro1437Arg	rs769278609	missense variant	-	NC_000012.12:g.124346613G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu1438Lys	rs1455150240	missense variant	-	NC_000012.12:g.124346611C>T	TOPMed
NCOR2	Q9Y618	p.Pro1440Ser	rs780980136	missense variant	-	NC_000012.12:g.124346605G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu1441Pro	rs753079885	missense variant	-	NC_000012.12:g.124346601A>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1441Met	rs758901108	missense variant	-	NC_000012.12:g.124346602G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1442Val	COSM3457804	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124346598G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1443Ser	COSM3457802	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124346596G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1443Leu	rs755465649	missense variant	-	NC_000012.12:g.124346595G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1444Trp	rs766376384	missense variant	-	NC_000012.12:g.124346593G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1444Gln	rs1440902243	missense variant	-	NC_000012.12:g.124346592C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1445Leu	rs750708611	missense variant	-	NC_000012.12:g.124346589G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1445Ser	rs760753393	missense variant	-	NC_000012.12:g.124346590G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1445Gln	rs750708611	missense variant	-	NC_000012.12:g.124346589G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1447Asn	rs774153308	missense variant	-	NC_000012.12:g.124346582C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1448Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.124346581C>A	NCI-TCGA
NCOR2	Q9Y618	p.Ser1450Thr	rs1436062538	missense variant	-	NC_000012.12:g.124346575A>T	gnomAD
NCOR2	Q9Y618	p.Ile1451Val	rs768456898	missense variant	-	NC_000012.12:g.124346572T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1452Met	rs762802450	missense variant	-	NC_000012.12:g.124346568G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1455Asn	rs746668940	missense variant	-	NC_000012.12:g.124344947G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1456Leu	rs865996390	missense variant	-	NC_000012.12:g.124344944G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr1459Cys	rs1169139091	missense variant	-	NC_000012.12:g.124344935T>C	gnomAD
NCOR2	Q9Y618	p.Asp1460Asn	rs1476285882	missense variant	-	NC_000012.12:g.124344933C>T	gnomAD
NCOR2	Q9Y618	p.Gly1462Arg	rs781253968	missense variant	-	NC_000012.12:g.124344927C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1462Ser	rs781253968	missense variant	-	NC_000012.12:g.124344927C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1463Ser	rs373008881	missense variant	-	NC_000012.12:g.124344924C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1463Thr	rs373008881	missense variant	-	NC_000012.12:g.124344924C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1463Val	rs1205820050	missense variant	-	NC_000012.12:g.124344923G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1464Tyr	rs375849244	missense variant	-	NC_000012.12:g.124344920G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1465Ile	rs979887502	missense variant	-	NC_000012.12:g.124344917G>A	TOPMed
NCOR2	Q9Y618	p.Thr1466Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124344915T>C	NCI-TCGA
NCOR2	Q9Y618	p.Ser1468Cys	rs752514577	missense variant	-	NC_000012.12:g.124344908G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1468Phe	rs752514577	missense variant	-	NC_000012.12:g.124344908G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1469Glu	rs1335010303	missense variant	-	NC_000012.12:g.124344906T>C	gnomAD
NCOR2	Q9Y618	p.Asp1472Asn	rs374057697	missense variant	-	NC_000012.12:g.124344897C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1473Ile	rs1458942885	missense variant	-	NC_000012.12:g.124344894C>T	TOPMed
NCOR2	Q9Y618	p.Arg1474Ser	rs926308556	missense variant	-	NC_000012.12:g.124344891G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1474His	rs867704636	missense variant	-	NC_000012.12:g.124344890C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1474Cys	rs926308556	missense variant	-	NC_000012.12:g.124344891G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1476Phe	rs1327608180	missense variant	-	NC_000012.12:g.124344885G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1476Val	rs1327608180	missense variant	-	NC_000012.12:g.124344885G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1477Val	rs1464745475	missense variant	-	NC_000012.12:g.124344882T>C	TOPMed
NCOR2	Q9Y618	p.Gly1478Ser	rs776647943	missense variant	-	NC_000012.12:g.124344879C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1479Arg	rs1403874732	missense variant	-	NC_000012.12:g.124344874G>C	gnomAD
NCOR2	Q9Y618	p.Pro1480Arg	rs1402840151	missense variant	-	NC_000012.12:g.124344872G>C	TOPMed
NCOR2	Q9Y618	p.Gly1481Asp	rs1439581131	missense variant	-	NC_000012.12:g.124344869C>T	gnomAD
NCOR2	Q9Y618	p.Gly1481Ser	rs368957269	missense variant	-	NC_000012.12:g.124344870C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1482Trp	rs771730352	missense variant	-	NC_000012.12:g.124344867G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1482Gln	rs376657965	missense variant	-	NC_000012.12:g.124344866C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1483Met	rs775950602	missense variant	-	NC_000012.12:g.124344863G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1483Lys	rs775950602	missense variant	-	NC_000012.12:g.124344863G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1485Leu	COSM3457799	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124344857G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1485Ala	rs1008945586	missense variant	-	NC_000012.12:g.124344858G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1486Ser	rs1238817288	missense variant	-	NC_000012.12:g.124344855G>A	gnomAD
NCOR2	Q9Y618	p.Pro1486His	rs770077319	missense variant	-	NC_000012.12:g.124344854G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Val1487Met	rs781654152	missense variant	-	NC_000012.12:g.124344852C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1488Tyr	rs771064688	missense variant	-	NC_000012.12:g.124344849G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1489Leu	rs956284785	missense variant	-	NC_000012.12:g.124344845G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1490Pro	rs1347211997	missense variant	-	NC_000012.12:g.124344842A>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1491Gly	rs1164577873	missense variant	-	NC_000012.12:g.124344839T>C	TOPMed
NCOR2	Q9Y618	p.Asp1491Tyr	rs1419174855	missense variant	-	NC_000012.12:g.124344840C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1491Ala	rs1164577873	missense variant	-	NC_000012.12:g.124344839T>G	TOPMed
NCOR2	Q9Y618	p.Met1493Val	rs1348615213	missense variant	-	NC_000012.12:g.124344834T>C	TOPMed
NCOR2	Q9Y618	p.Met1493Ile	rs1378618092	missense variant	-	NC_000012.12:g.124344832C>T	gnomAD
NCOR2	Q9Y618	p.Ala1494Val	rs866780446	missense variant	-	NC_000012.12:g.124344830G>A	gnomAD
NCOR2	Q9Y618	p.Asp1495Asn	rs371737548	missense variant	-	NC_000012.12:g.124344828C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1496Thr	rs781223466	missense variant	-	NC_000012.12:g.124344825C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1497Trp	rs1242350276	missense variant	-	NC_000012.12:g.124344822G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1497Gln	rs778778124	missense variant	-	NC_000012.12:g.124344821C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1498Glu	rs1281921027	missense variant	-	NC_000012.12:g.124344818G>T	gnomAD
NCOR2	Q9Y618	p.Leu1499Val	rs1341422685	missense variant	-	NC_000012.12:g.124344816G>C	TOPMed
NCOR2	Q9Y618	p.Arg1501Gly	rs754766110	missense variant	-	NC_000012.12:g.124344810G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1501Cys	rs754766110	missense variant	-	NC_000012.12:g.124344810G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1501His	rs753887869	missense variant	-	NC_000012.12:g.124344809C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1502Asp	rs1216134350	missense variant	-	NC_000012.12:g.124344806G>T	gnomAD
NCOR2	Q9Y618	p.Ala1502Thr	rs766417938	missense variant	-	NC_000012.12:g.124344807C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1502Ser	rs766417938	missense variant	-	NC_000012.12:g.124344807C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1502Val	rs1216134350	missense variant	-	NC_000012.12:g.124344806G>A	gnomAD
NCOR2	Q9Y618	p.Glu1505Lys	rs888041970	missense variant	-	NC_000012.12:g.124344798C>T	gnomAD
NCOR2	Q9Y618	p.Glu1506Asp	rs1418216630	missense variant	-	NC_000012.12:g.124344793C>G	gnomAD
NCOR2	Q9Y618	p.Glu1506Lys	rs1399690696	missense variant	-	NC_000012.12:g.124344795C>T	gnomAD
NCOR2	Q9Y618	p.Ser1507Arg	rs749968799	missense variant	-	NC_000012.12:g.124344790G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1507Arg	rs1358678070	missense variant	-	NC_000012.12:g.124344792T>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1510Asn	rs1377576823	missense variant	-	NC_000012.12:g.124344782C>T	gnomAD
NCOR2	Q9Y618	p.Arg1511Trp	rs1213899410	missense variant	-	NC_000012.12:g.124344780G>A	TOPMed
NCOR2	Q9Y618	p.Arg1511Gln	rs1174323548	missense variant	-	NC_000012.12:g.124344779C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1514Ala	COSM936708	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124344771T>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Thr1514Ser	rs1430670883	missense variant	-	NC_000012.12:g.124344771T>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1515Ser	rs896684336	missense variant	-	NC_000012.12:g.124344768C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1515Thr	rs896684336	missense variant	-	NC_000012.12:g.124344768C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1516Asn	rs1487135037	missense variant	-	NC_000012.12:g.124344764C>T	gnomAD
NCOR2	Q9Y618	p.Ser1518Thr	rs75902515	missense variant	-	NC_000012.12:g.124344759A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1518Leu	rs761530904	missense variant	-	NC_000012.12:g.124344758G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1519Glu	rs1254192265	missense variant	-	NC_000012.12:g.124344755C>T	gnomAD
NCOR2	Q9Y618	p.Gly1520AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124344752C>-	NCI-TCGA
NCOR2	Q9Y618	p.Gly1520Val	rs926260945	missense variant	-	NC_000012.12:g.124344752C>A	TOPMed
NCOR2	Q9Y618	p.Gly1520Ser	rs770202149	missense variant	-	NC_000012.12:g.124344753C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1521LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124344751_124344752insC	NCI-TCGA
NCOR2	Q9Y618	p.Ile1522Val	rs1218215285	missense variant	-	NC_000012.12:g.124344747T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1522Asn	rs1376618571	missense variant	-	NC_000012.12:g.124344746A>T	TOPMed
NCOR2	Q9Y618	p.Ile1522Leu	rs1218215285	missense variant	-	NC_000012.12:g.124344747T>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1523Thr	rs1295146759	missense variant	-	NC_000012.12:g.124344744C>T	gnomAD
NCOR2	Q9Y618	p.Ala1523Val	rs1396687230	missense variant	-	NC_000012.12:g.124344743G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1524Cys	rs759889293	missense variant	-	NC_000012.12:g.124344741G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1524His	rs1464033335	missense variant	-	NC_000012.12:g.124344740C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1525Ser	rs565303494	missense variant	-	NC_000012.12:g.124344738C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1526Val	rs1376009336	missense variant	-	NC_000012.12:g.124344734G>A	gnomAD
NCOR2	Q9Y618	p.Ala1526Thr	rs988342697	missense variant	-	NC_000012.12:g.124344735C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1527Leu	rs1422734998	missense variant	-	NC_000012.12:g.124344731G>A	gnomAD
NCOR2	Q9Y618	p.Pro1527Ser	rs917396615	missense variant	-	NC_000012.12:g.124344732G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1527Thr	rs917396615	missense variant	-	NC_000012.12:g.124344732G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1528Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124344728A>G	NCI-TCGA
NCOR2	Q9Y618	p.Ile1529Leu	rs1458187370	missense variant	-	NC_000012.12:g.124344726T>G	gnomAD
NCOR2	Q9Y618	p.Lys1535Asn	rs1316232520	missense variant	-	NC_000012.12:g.124344706C>A	gnomAD
NCOR2	Q9Y618	p.Pro1536Leu	rs1245889992	missense variant	-	NC_000012.12:g.124344704G>A	gnomAD
NCOR2	Q9Y618	p.Pro1536Ser	rs866436784	missense variant	-	NC_000012.12:g.124344705G>A	gnomAD
NCOR2	Q9Y618	p.Arg1537Trp	rs1310731588	missense variant	-	NC_000012.12:g.124344702G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1537Gln	rs1393615399	missense variant	-	NC_000012.12:g.124344701C>T	gnomAD
NCOR2	Q9Y618	p.Gln1538Arg	rs1331045609	missense variant	-	NC_000012.12:g.124344698T>C	gnomAD
NCOR2	Q9Y618	p.Gln1538Glu	rs754890750	missense variant	-	NC_000012.12:g.124344699G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Gln1538Lys	rs754890750	missense variant	-	NC_000012.12:g.124344699G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1539Ile	rs1464407664	missense variant	-	NC_000012.12:g.124344695C>A	gnomAD
NCOR2	Q9Y618	p.Pro1540Ser	rs753660561	missense variant	-	NC_000012.12:g.124344693G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu1541Val	rs756150078	missense variant	-	NC_000012.12:g.124344690G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1542Ile	rs1440182431	missense variant	-	NC_000012.12:g.124344686G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1544Asp	rs1176473269	missense variant	-	NC_000012.12:g.124344679C>A	gnomAD
NCOR2	Q9Y618	p.Asp1545Glu	rs1409897546	missense variant	-	NC_000012.12:g.124344676G>C	gnomAD
NCOR2	Q9Y618	p.Gly1547Arg	rs1267871841	missense variant	-	NC_000012.12:g.124344672C>T	gnomAD
NCOR2	Q9Y618	p.Gly1547Val	rs1210639232	missense variant	-	NC_000012.12:g.124344671C>A	gnomAD
NCOR2	Q9Y618	p.Ala1548Thr	rs1263717715	missense variant	-	NC_000012.12:g.124344669C>T	gnomAD
NCOR2	Q9Y618	p.Ala1548Val	rs1241309144	missense variant	-	NC_000012.12:g.124344668G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1549Ala	rs1354982238	missense variant	-	NC_000012.12:g.124344666G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1549Ser	rs1354982238	missense variant	-	NC_000012.12:g.124344666G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Phe1550Leu	rs1445305359	missense variant	-	NC_000012.12:g.124344663A>G	gnomAD
NCOR2	Q9Y618	p.Gly1552Ser	rs182638003	missense variant	-	NC_000012.12:g.124344657C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1553Tyr	rs1385833527	missense variant	-	NC_000012.12:g.124344654G>A	gnomAD
NCOR2	Q9Y618	p.Arg1556Gln	rs1325302260	missense variant	-	NC_000012.12:g.124344644C>T	TOPMed
NCOR2	Q9Y618	p.Gly1557Asp	rs1388160250	missense variant	-	NC_000012.12:g.124344641C>T	gnomAD
NCOR2	Q9Y618	p.Ser1558Leu	rs751292220	missense variant	-	NC_000012.12:g.124344638G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1560Met	rs2229841	missense variant	-	NC_000012.12:g.124344633C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1562Lys	rs1455571371	missense variant	-	NC_000012.12:g.124344626G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1562Met	rs1455571371	missense variant	-	NC_000012.12:g.124344626G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1563Trp	rs1197943035	missense variant	-	NC_000012.12:g.124344624G>A	gnomAD
NCOR2	Q9Y618	p.Arg1563Gln	rs1001933048	missense variant	-	NC_000012.12:g.124344623C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1565Ala	rs1170943920	missense variant	-	NC_000012.12:g.124344618G>C	TOPMed
NCOR2	Q9Y618	p.Thr1566Met	rs139412138	missense variant	-	NC_000012.12:g.124344614G>A	1000Genomes,gnomAD
NCOR2	Q9Y618	p.Pro1567Leu	rs1488656817	missense variant	-	NC_000012.12:g.124344611G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1568His	rs946368097	missense variant	-	NC_000012.12:g.124344608C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1568Cys	rs1238567659	missense variant	-	NC_000012.12:g.124344609G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1571Gln	rs1275756142	missense variant	-	NC_000012.12:g.124344600C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1573Gly	rs751048329	missense variant	-	NC_000012.12:g.124343224T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1573Arg	rs763546462	missense variant	-	NC_000012.12:g.124343222G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1575Leu	rs181834930	missense variant	-	NC_000012.12:g.124343217G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1577Thr	rs766746478	missense variant	-	NC_000012.12:g.124343211C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1577Arg	rs1283146524	missense variant	-	NC_000012.12:g.124343210G>T	gnomAD
NCOR2	Q9Y618	p.Ser1577Asn	rs766746478	missense variant	-	NC_000012.12:g.124343211C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1577Ile	rs766746478	missense variant	-	NC_000012.12:g.124343211C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1579Ser	rs1445674950	missense variant	-	NC_000012.12:g.124343206C>A	gnomAD
NCOR2	Q9Y618	p.Ser1580Tyr	rs1331717285	missense variant	-	NC_000012.12:g.124343202G>T	gnomAD
NCOR2	Q9Y618	p.Ser1580Cys	rs1331717285	missense variant	-	NC_000012.12:g.124343202G>C	gnomAD
NCOR2	Q9Y618	p.Arg1583Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.124343194G>A	NCI-TCGA
NCOR2	Q9Y618	p.Arg1583Gln	rs1445774603	missense variant	-	NC_000012.12:g.124343193C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1586Met	rs760936512	missense variant	-	NC_000012.12:g.124343184G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1587Leu	rs767883030	missense variant	-	NC_000012.12:g.124343181G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1588Met	rs774599894	missense variant	-	NC_000012.12:g.124343178G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1590Cys	rs941902871	missense variant	-	NC_000012.12:g.124343173G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1590His	rs749531672	missense variant	-	NC_000012.12:g.124343172C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1592Leu	rs1236797882	missense variant	-	NC_000012.12:g.124343167T>G	gnomAD
NCOR2	Q9Y618	p.Ala1593Thr	rs200976796	missense variant	-	NC_000012.12:g.124343164C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1593Ser	rs200976796	missense variant	-	NC_000012.12:g.124343164C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1595Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124343157G>A	NCI-TCGA
NCOR2	Q9Y618	p.Pro1596Leu	rs757164770	missense variant	-	NC_000012.12:g.124343154G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1596Ala	rs1226127696	missense variant	-	NC_000012.12:g.124343155G>C	gnomAD
NCOR2	Q9Y618	p.His1597Arg	rs1426693435	missense variant	-	NC_000012.12:g.124343151T>C	TOPMed
NCOR2	Q9Y618	p.Val1600Met	rs562907623	missense variant	-	NC_000012.12:g.124343143C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1602Lys	rs1438829063	missense variant	-	NC_000012.12:g.124343137C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1602Gln	rs1438829063	missense variant	-	NC_000012.12:g.124343137C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1605Arg	rs752408513	missense variant	-	NC_000012.12:g.124343127G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1606Asp	rs764796176	missense variant	-	NC_000012.12:g.124343125G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.His1606Arg	rs1422827647	missense variant	-	NC_000012.12:g.124343124T>C	gnomAD
NCOR2	Q9Y618	p.His1606Gln	rs756545481	missense variant	-	NC_000012.12:g.124343123G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile1608Val	rs750734387	missense variant	-	NC_000012.12:g.124343119T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1609Leu	rs767880178	missense variant	-	NC_000012.12:g.124343115G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1610Thr	rs184244414	missense variant	-	NC_000012.12:g.124343113G>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1610Leu	rs1245771214	missense variant	-	NC_000012.12:g.124343112G>A	gnomAD
NCOR2	Q9Y618	p.Tyr1611Cys	rs764323897	missense variant	-	NC_000012.12:g.124343109T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1613Arg	rs775894352	missense variant	-	NC_000012.12:g.124343103T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu1615Phe	rs759755053	missense variant	-	NC_000012.12:g.124343098G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1616Leu	rs776321587	missense variant	-	NC_000012.12:g.124343094C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1616Gln	rs776321587	missense variant	-	NC_000012.12:g.124343094C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1616Trp	rs944324049	missense variant	-	NC_000012.12:g.124343095G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1618Met	rs544348683	missense variant	-	NC_000012.12:g.124343089C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1619Asn	rs1241890570	missense variant	-	NC_000012.12:g.124343085C>T	TOPMed
NCOR2	Q9Y618	p.Val1621Met	rs747630707	missense variant	-	NC_000012.12:g.124343080C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1621Ala	rs1343960634	missense variant	-	NC_000012.12:g.124343079A>G	gnomAD
NCOR2	Q9Y618	p.Leu1623Val	rs1178595113	missense variant	-	NC_000012.12:g.124343074G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1625Gly	rs1168412528	missense variant	-	NC_000012.12:g.124343068G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1625His	rs778680158	missense variant	-	NC_000012.12:g.124343067C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1625Cys	rs1168412528	missense variant	-	NC_000012.12:g.124343068G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1628Val	rs1189077779	missense variant	-	NC_000012.12:g.124343059T>C	gnomAD
NCOR2	Q9Y618	p.Pro1629Arg	rs1478620488	missense variant	-	NC_000012.12:g.124343055G>C	gnomAD
NCOR2	Q9Y618	p.Phe1632Ser	rs1487235909	missense variant	-	NC_000012.12:g.124343046A>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1633Glu	rs764663064	missense variant	-	NC_000012.12:g.124343042G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1633Asn	rs757680524	missense variant	-	NC_000012.12:g.124343044C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1634Thr	rs1298992684	missense variant	-	NC_000012.12:g.124343041G>T	gnomAD
NCOR2	Q9Y618	p.Ile1637Thr	rs1342647598	missense variant	-	NC_000012.12:g.124343031A>G	gnomAD
NCOR2	Q9Y618	p.Pro1638Leu	rs1278856253	missense variant	-	NC_000012.12:g.124343028G>A	gnomAD
NCOR2	Q9Y618	p.Arg1639Cys	rs765320802	missense variant	-	NC_000012.12:g.124343026G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1639Gly	rs765320802	missense variant	-	NC_000012.12:g.124343026G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1639His	rs369522120	missense variant	-	NC_000012.12:g.124343025C>T	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1640Ser	rs746232771	missense variant	-	NC_000012.12:g.124343023C>T	gnomAD
NCOR2	Q9Y618	p.Ile1641Phe	rs1463013599	missense variant	-	NC_000012.12:g.124343020T>A	TOPMed
NCOR2	Q9Y618	p.Leu1643Arg	rs1358916438	missense variant	-	NC_000012.12:g.124343013A>C	gnomAD
NCOR2	Q9Y618	p.Leu1643Gln	COSM3368715	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124343013A>T	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asp1644Asn	rs1174763984	missense variant	-	NC_000012.12:g.124343011C>T	gnomAD
NCOR2	Q9Y618	p.Ala1645Thr	rs1423915563	missense variant	-	NC_000012.12:g.124343008C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1645Glu	rs771980299	missense variant	-	NC_000012.12:g.124343007G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1645Ser	rs1423915563	missense variant	-	NC_000012.12:g.124343008C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1645Val	rs771980299	missense variant	-	NC_000012.12:g.124343007G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1647Thr	rs756364272	missense variant	-	NC_000012.12:g.124342072C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1647Ser	rs756364272	missense variant	-	NC_000012.12:g.124342072C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1648Thr	rs750582314	missense variant	-	NC_000012.12:g.124342069C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1653Gln	rs774193502	missense variant	-	NC_000012.12:g.124342053C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1653Gly	rs761661732	missense variant	-	NC_000012.12:g.124342054G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1656Pro	rs1436234350	missense variant	-	NC_000012.12:g.124342045C>G	gnomAD
NCOR2	Q9Y618	p.Pro1657Ser	rs762749243	missense variant	-	NC_000012.12:g.124342042G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Asn1658ThrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124342040G>-	NCI-TCGA
NCOR2	Q9Y618	p.Pro1659Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124342036G>T	NCI-TCGA
NCOR2	Q9Y618	p.Thr1660Ile	rs775170362	missense variant	-	NC_000012.12:g.124342032G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Tyr1661His	rs1219398293	missense variant	-	NC_000012.12:g.124342030A>G	gnomAD
NCOR2	Q9Y618	p.Pro1662Leu	rs769363112	missense variant	-	NC_000012.12:g.124342026G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1663Gln	rs1333254097	missense variant	-	NC_000012.12:g.124342022G>T	gnomAD
NCOR2	Q9Y618	p.Pro1666Ser	rs776411023	missense variant	-	NC_000012.12:g.124342015G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1667Leu	COSM4039898	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124342011G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Tyr1668Cys	rs1453182791	missense variant	-	NC_000012.12:g.124342008T>C	TOPMed
NCOR2	Q9Y618	p.Ile1670Val	rs772634427	missense variant	-	NC_000012.12:g.124342003T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile1670Thr	rs1247399574	missense variant	-	NC_000012.12:g.124342002A>G	TOPMed
NCOR2	Q9Y618	p.Arg1671Cys	rs748517349	missense variant	-	NC_000012.12:g.124342000G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1671His	rs779340578	missense variant	-	NC_000012.12:g.124341999C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1672Ser	rs1472227526	missense variant	-	NC_000012.12:g.124341997C>T	TOPMed
NCOR2	Q9Y618	p.Gly1672Val	rs749723304	missense variant	-	NC_000012.12:g.124341996C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp1675Tyr	rs756170062	missense variant	-	NC_000012.12:g.124341988C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1675Asn	rs756170062	missense variant	-	NC_000012.12:g.124341988C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1676Met	rs750708417	missense variant	-	NC_000012.12:g.124341984G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1677Val	rs566159264	missense variant	-	NC_000012.12:g.124341981G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1678Val	rs763755520	missense variant	-	NC_000012.12:g.124341978G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asn1681Lys	rs1233719126	missense variant	-	NC_000012.12:g.124341968G>C	TOPMed
NCOR2	Q9Y618	p.Arg1682Gln	rs958443755	missense variant	-	NC_000012.12:g.124341966C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1682Trp	rs752623980	missense variant	-	NC_000012.12:g.124341967G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile1686Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124341953G>C	NCI-TCGA
NCOR2	Q9Y618	p.Ile1686Thr	rs375059380	missense variant	-	NC_000012.12:g.124341954A>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1690Val	rs1279476563	missense variant	-	NC_000012.12:g.124341943T>C	gnomAD
NCOR2	Q9Y618	p.Thr1691Ile	COSM3457795	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124341939G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ser1692Leu	COSM3457793	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124341936G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Gln1693Lys	rs1339361677	missense variant	-	NC_000012.12:g.124341934G>T	gnomAD
NCOR2	Q9Y618	p.His1697Gln	rs760199503	missense variant	-	NC_000012.12:g.124341920G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1699Thr	rs2229840	missense variant	-	NC_000012.12:g.124341916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1699Pro	rs2229840	missense variant	-	NC_000012.12:g.124341916C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1699Val	rs749848130	missense variant	-	NC_000012.12:g.124341915G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1701Ala	rs1019925483	missense variant	-	NC_000012.12:g.124341910T>C	gnomAD
NCOR2	Q9Y618	p.Ala1702Thr	rs201574379	missense variant	-	NC_000012.12:g.124341907C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1702Pro	rs201574379	missense variant	-	NC_000012.12:g.124341907C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met1703Thr	rs1257241021	missense variant	-	NC_000012.12:g.124341903A>G	gnomAD
NCOR2	Q9Y618	p.Met1703Val	rs1041009262	missense variant	-	NC_000012.12:g.124341904T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1704Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124341901C>G	NCI-TCGA
NCOR2	Q9Y618	p.Ala1704Val	rs1336370862	missense variant	-	NC_000012.12:g.124341900G>A	TOPMed
NCOR2	Q9Y618	p.Arg1706Gln	rs757528674	missense variant	-	NC_000012.12:g.124341894C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1706Leu	rs757528674	missense variant	-	NC_000012.12:g.124341894C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met1709Val	rs1287425537	missense variant	-	NC_000012.12:g.124341886T>C	TOPMed
NCOR2	Q9Y618	p.Met1709Thr	rs1218927808	missense variant	-	NC_000012.12:g.124341885A>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1711Ser	rs1338156717	missense variant	-	NC_000012.12:g.124341878C>A	gnomAD
NCOR2	Q9Y618	p.Leu1713Phe	rs1450083393	missense variant	-	NC_000012.12:g.124341874G>A	gnomAD
NCOR2	Q9Y618	p.Ser1714Leu	rs1261292284	missense variant	-	NC_000012.12:g.124341870G>A	TOPMed
NCOR2	Q9Y618	p.Pro1715Ser	rs1335775651	missense variant	-	NC_000012.12:g.124341868G>A	gnomAD
NCOR2	Q9Y618	p.Arg1716Cys	rs368753932	missense variant	-	NC_000012.12:g.124341865G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1716His	rs752750459	missense variant	-	NC_000012.12:g.124341864C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1717Lys	rs1466370963	missense variant	-	NC_000012.12:g.124341862C>T	gnomAD
NCOR2	Q9Y618	p.Ser1719Leu	rs562657424	missense variant	-	NC_000012.12:g.124341855G>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1719Thr	rs1418840151	missense variant	-	NC_000012.12:g.124341856A>T	gnomAD
NCOR2	Q9Y618	p.Asn1723Ser	rs200681291	missense variant	-	NC_000012.12:g.124341843T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1725Thr	rs369349451	missense variant	-	NC_000012.12:g.124341838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1726Val	rs776023520	missense variant	-	NC_000012.12:g.124341834G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1727Ser	rs1314294064	missense variant	-	NC_000012.12:g.124341832C>T	gnomAD
NCOR2	Q9Y618	p.Arg1729Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124341825C>A	NCI-TCGA
NCOR2	Q9Y618	p.Arg1729Gln	rs773550297	missense variant	-	NC_000012.12:g.124341825C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1730Asp	rs778879028	missense variant	-	NC_000012.12:g.124340751C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile1732Val	rs754767805	missense variant	-	NC_000012.12:g.124340746T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1733Gly	rs1371175273	missense variant	-	NC_000012.12:g.124340742T>C	TOPMed
NCOR2	Q9Y618	p.Asp1733Asn	rs12370191	missense variant	-	NC_000012.12:g.124340743C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1733His	rs12370191	missense variant	-	NC_000012.12:g.124340743C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1737Ala	rs779854685	missense variant	-	NC_000012.12:g.124340730A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1738Ser	rs1280521945	missense variant	-	NC_000012.12:g.124340728G>A	gnomAD
NCOR2	Q9Y618	p.His1739Arg	rs532473630	missense variant	-	NC_000012.12:g.124340724T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1739Pro	rs532473630	missense variant	-	NC_000012.12:g.124340724T>G	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1739Gln	rs1293059039	missense variant	-	NC_000012.12:g.124340723G>C	TOPMed
NCOR2	Q9Y618	p.Pro1741Ser	rs766988402	missense variant	-	NC_000012.12:g.124340719G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Val1744Ala	rs565085130	missense variant	-	NC_000012.12:g.124340709A>G	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1746Leu	rs765639135	missense variant	-	NC_000012.12:g.124340703G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1747Ile	rs1343760195	missense variant	-	NC_000012.12:g.124340700G>A	gnomAD
NCOR2	Q9Y618	p.Pro1748Ala	rs777261487	missense variant	-	NC_000012.12:g.124340698G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1749Ser	rs1253703160	missense variant	-	NC_000012.12:g.124340695C>T	TOPMed
NCOR2	Q9Y618	p.Gly1749Ala	rs1464537963	missense variant	-	NC_000012.12:g.124340694C>G	TOPMed
NCOR2	Q9Y618	p.Gly1749Arg	rs1253703160	missense variant	-	NC_000012.12:g.124340695C>G	TOPMed
NCOR2	Q9Y618	p.Thr1750Ile	rs761183801	missense variant	-	NC_000012.12:g.124340691G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1750Pro	rs766781540	missense variant	-	NC_000012.12:g.124340692T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1751Ala	rs1264071699	missense variant	-	NC_000012.12:g.124340689G>C	TOPMed
NCOR2	Q9Y618	p.Thr1753Ser	rs1185827840	missense variant	-	NC_000012.12:g.124340683T>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1754Thr	rs762145134	missense variant	-	NC_000012.12:g.124340680C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1754Asp	rs1210575778	missense variant	-	NC_000012.12:g.124340679G>T	gnomAD
NCOR2	Q9Y618	p.Ala1754Ser	rs762145134	missense variant	-	NC_000012.12:g.124340680C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met1755Ile	rs774687938	missense variant	-	NC_000012.12:g.124340675C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met1755Val	rs1324459221	missense variant	-	NC_000012.12:g.124340677T>C	gnomAD
NCOR2	Q9Y618	p.Arg1757Cys	rs768643536	missense variant	-	NC_000012.12:g.124340671G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1757Leu	rs779843766	missense variant	-	NC_000012.12:g.124340670C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1757His	rs779843766	missense variant	-	NC_000012.12:g.124340670C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr1760Ser	rs997994196	missense variant	-	NC_000012.12:g.124340661T>G	gnomAD
NCOR2	Q9Y618	p.Leu1761Pro	rs900561965	missense variant	-	NC_000012.12:g.124340658A>G	gnomAD
NCOR2	Q9Y618	p.Pro1762His	rs374215389	missense variant	-	NC_000012.12:g.124340655G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1762Thr	rs990374132	missense variant	-	NC_000012.12:g.124340656G>T	TOPMed
NCOR2	Q9Y618	p.Thr1763Ile	rs1405881994	missense variant	-	NC_000012.12:g.124340652G>A	gnomAD
NCOR2	Q9Y618	p.Thr1763Pro	rs780703898	missense variant	-	NC_000012.12:g.124340653T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1764Thr	rs375289860	missense variant	-	NC_000012.12:g.124340650C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1764Val	rs777397769	missense variant	-	NC_000012.12:g.124340649G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1765Leu	rs754164700	missense variant	-	NC_000012.12:g.124340646G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1769Gly	rs371456799	missense variant	-	NC_000012.12:g.124340635T>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1770Gly	rs767750462	missense variant	-	NC_000012.12:g.124340632T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1771Cys	rs12422607	missense variant	-	NC_000012.12:g.124340629G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1771His	rs774775666	missense variant	-	NC_000012.12:g.124340628C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1771His	RCV000625886	missense variant	-	NC_000012.12:g.124340628C>T	ClinVar
NCOR2	Q9Y618	p.Ser1773Gly	rs1251900074	missense variant	-	NC_000012.12:g.124340623T>C	gnomAD
NCOR2	Q9Y618	p.Ser1774Cys	rs763171711	missense variant	-	NC_000012.12:g.124340620T>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1774Gly	rs763171711	missense variant	-	NC_000012.12:g.124340620T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1776Leu	rs573137423	missense variant	-	NC_000012.12:g.124340613G>A	1000Genomes
NCOR2	Q9Y618	p.Ser1778Phe	rs1315418896	missense variant	-	NC_000012.12:g.124340607G>A	gnomAD
NCOR2	Q9Y618	p.Gly1781Asp	rs752929060	missense variant	-	NC_000012.12:g.124340440C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1781Arg	rs758475054	missense variant	-	NC_000012.12:g.124340441C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1781Ser	rs758475054	missense variant	-	NC_000012.12:g.124340441C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1783Ile	rs1408614058	missense variant	-	NC_000012.12:g.124340434G>A	TOPMed
NCOR2	Q9Y618	p.Thr1786Ala	rs776413929	missense variant	-	NC_000012.12:g.124340426T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys1787Gln	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124340423T>G	NCI-TCGA
NCOR2	Q9Y618	p.Thr1790Ala	rs1355575116	missense variant	-	NC_000012.12:g.124340414T>C	TOPMed
NCOR2	Q9Y618	p.Thr1790Ile	rs1440840239	missense variant	-	NC_000012.12:g.124340413G>A	TOPMed
NCOR2	Q9Y618	p.Thr1791Met	rs537367417	missense variant	-	NC_000012.12:g.124340410G>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1791Ala	rs896130425	missense variant	-	NC_000012.12:g.124340411T>C	TOPMed
NCOR2	Q9Y618	p.Ser1792Phe	rs773108865	missense variant	-	NC_000012.12:g.124340407G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1793Leu	rs1056154022	missense variant	-	NC_000012.12:g.124340404G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1794Phe	COSM3457789	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340401G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Glu1795Asp	rs1318423205	missense variant	-	NC_000012.12:g.124340397C>G	TOPMed
NCOR2	Q9Y618	p.Glu1795Lys	rs377170496	missense variant	-	NC_000012.12:g.124340399C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1796Gln	rs569116167	missense variant	-	NC_000012.12:g.124340395C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1796Leu	rs569116167	missense variant	-	NC_000012.12:g.124340395C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1796Gly	rs768362888	missense variant	-	NC_000012.12:g.124340396G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1796Trp	rs768362888	missense variant	-	NC_000012.12:g.124340396G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1797Lys	rs1018108818	missense variant	-	NC_000012.12:g.124340393C>T	TOPMed
NCOR2	Q9Y618	p.Arg1798Ter	rs1480147045	stop gained	-	NC_000012.12:g.124340390G>A	gnomAD
NCOR2	Q9Y618	p.Arg1798Gln	rs372979444	missense variant	-	NC_000012.12:g.124340389C>T	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1800Gln	rs550558916	missense variant	-	NC_000012.12:g.124340383C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1800Trp	rs757674784	missense variant	-	NC_000012.12:g.124340384G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1802Pro	rs778339008	missense variant	-	NC_000012.12:g.124340377C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1802Gln	rs778339008	missense variant	-	NC_000012.12:g.124340377C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1804Trp	rs201265970	missense variant	-	NC_000012.12:g.124340372G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1804Gly	rs201265970	missense variant	-	NC_000012.12:g.124340372G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1804Gln	rs199692449	missense variant	-	NC_000012.12:g.124340371C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp1805Glu	rs755221894	missense variant	-	NC_000012.12:g.124340367G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1806Trp	rs754008044	missense variant	-	NC_000012.12:g.124340366G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1806Gln	rs766208368	missense variant	-	NC_000012.12:g.124340365C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp1807Glu	rs369485952	missense variant	-	NC_000012.12:g.124340361A>C	ESP,ExAC,TOPMed
NCOR2	Q9Y618	p.Arg1808Trp	rs375229118	missense variant	-	NC_000012.12:g.124340360G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1808Gly	rs375229118	missense variant	-	NC_000012.12:g.124340360G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1808Gln	rs565024394	missense variant	-	NC_000012.12:g.124340359C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1809Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124340355C>A	NCI-TCGA
NCOR2	Q9Y618	p.Arg1810Trp	rs373197094	missense variant	-	NC_000012.12:g.124340354G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1810Gln	rs775254112	missense variant	-	NC_000012.12:g.124340353C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1811Lys	rs1208533560	missense variant	-	NC_000012.12:g.124340351C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1811Asp	rs369739293	missense variant	-	NC_000012.12:g.124340349T>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1812Met	rs375889764	missense variant	-	NC_000012.12:g.124340347T>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys1812Arg	rs375889764	missense variant	-	NC_000012.12:g.124340347T>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1813Tyr	rs772637284	missense variant	-	NC_000012.12:g.124340344G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1813Phe	rs772637284	missense variant	-	NC_000012.12:g.124340344G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile1814Thr	rs1169749737	missense variant	-	NC_000012.12:g.124340341A>G	gnomAD
NCOR2	Q9Y618	p.Leu1815Val	rs202101695	missense variant	-	NC_000012.12:g.124340339G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1816Met	rs755025520	missense variant	-	NC_000012.12:g.124340335G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1818Asn	rs1202589414	missense variant	-	NC_000012.12:g.124340329G>T	gnomAD
NCOR2	Q9Y618	p.Thr1819Met	rs1459727971	missense variant	-	NC_000012.12:g.124340326G>A	gnomAD
NCOR2	Q9Y618	p.Thr1820Met	rs61755988	missense variant	-	NC_000012.12:g.124340323G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1821Met	rs950341670	missense variant	-	NC_000012.12:g.124340321C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1821Leu	rs950341670	missense variant	-	NC_000012.12:g.124340321C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1822Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124340318C>T	NCI-TCGA
NCOR2	Q9Y618	p.Ala1824Ser	rs767181136	missense variant	-	NC_000012.12:g.124340312C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1824Thr	rs767181136	missense variant	-	NC_000012.12:g.124340312C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1825Leu	COSM3457787	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340308G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ile1826Val	rs1452133986	missense variant	-	NC_000012.12:g.124340306T>C	gnomAD
NCOR2	Q9Y618	p.Arg1828Ser	rs376060814	missense variant	-	NC_000012.12:g.124340298T>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1831Ala	rs776124508	missense variant	-	NC_000012.12:g.124340202T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu1832Lys	rs1282892486	missense variant	-	NC_000012.12:g.124340199C>T	TOPMed
NCOR2	Q9Y618	p.Glu1832Asp	rs1483811042	missense variant	-	NC_000012.12:g.124340197C>A	TOPMed
NCOR2	Q9Y618	p.Gln1833Arg	rs767961974	missense variant	-	NC_000012.12:g.124340195T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1838Ile	rs202166914	missense variant	-	NC_000012.12:g.124340180C>A	ESP
NCOR2	Q9Y618	p.Gly1840Arg	rs112797765	missense variant	-	NC_000012.12:g.124340175C>T	TOPMed
NCOR2	Q9Y618	p.Gly1841Ser	rs1178235854	missense variant	-	NC_000012.12:g.124340172C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1841Val	rs769161381	missense variant	-	NC_000012.12:g.124340171C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1842Arg	rs769743669	missense variant	-	NC_000012.12:g.124340169C>T	ExAC
NCOR2	Q9Y618	p.Gly1842Trp	rs769743669	missense variant	-	NC_000012.12:g.124340169C>A	ExAC
NCOR2	Q9Y618	p.Gly1843Val	rs757135602	missense variant	-	NC_000012.12:g.124340165C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1843Asp	rs757135602	missense variant	-	NC_000012.12:g.124340165C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1843Ser	rs781267559	missense variant	-	NC_000012.12:g.124340166C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1844Gly	rs777645515	missense variant	-	NC_000012.12:g.124340163T>C	ExAC,TOPMed
NCOR2	Q9Y618	p.Ser1845Asn	rs758441373	missense variant	-	NC_000012.12:g.124340159C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1846Ile	rs764887683	missense variant	-	NC_000012.12:g.124340156C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1846Gly	rs577745902	missense variant	-	NC_000012.12:g.124340157T>C	1000Genomes,ExAC
NCOR2	Q9Y618	p.Ser1846Asn	rs764887683	missense variant	-	NC_000012.12:g.124340156C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1847Pro	rs753590635	missense variant	-	NC_000012.12:g.124340153C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1847His	rs753590635	missense variant	-	NC_000012.12:g.124340153C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1847Cys	rs376286347	missense variant	-	NC_000012.12:g.124340154G>A	ESP,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1848Thr	rs372774502	missense variant	-	NC_000012.12:g.124340151G>T	ESP,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1849Gly	rs1289753382	missense variant	-	NC_000012.12:g.124340147G>C	gnomAD
NCOR2	Q9Y618	p.Ala1849Ser	rs200488675	missense variant	-	NC_000012.12:g.124340148C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1849Thr	rs200488675	missense variant	-	NC_000012.12:g.124340148C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1849Val	COSM1299092	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340147G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ser1850Cys	rs764396899	missense variant	-	NC_000012.12:g.124340144G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1850Phe	rs764396899	missense variant	-	NC_000012.12:g.124340144G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1851Tyr	rs1386963157	missense variant	-	NC_000012.12:g.124340142G>A	gnomAD
NCOR2	Q9Y618	p.His1851Gln	rs763503321	missense variant	-	NC_000012.12:g.124340140G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1852Phe	rs1470018340	missense variant	-	NC_000012.12:g.124340138G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.His1853Arg	rs906000398	missense variant	-	NC_000012.12:g.124340135T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1854Thr	rs376014537	missense variant	-	NC_000012.12:g.124340133C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1855Gln	rs534729196	missense variant	-	NC_000012.12:g.124340128G>C	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1858Leu	rs745924890	missense variant	-	NC_000012.12:g.124340120G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1859Leu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124340117G>A	NCI-TCGA
NCOR2	Q9Y618	p.Pro1859Arg	rs771063370	missense variant	-	NC_000012.12:g.124340117G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1859Ser	rs896066066	missense variant	-	NC_000012.12:g.124340118G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1859Ala	rs896066066	missense variant	-	NC_000012.12:g.124340118G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1860Val	rs369612212	missense variant	-	NC_000012.12:g.124340115T>C	ESP,ExAC,TOPMed
NCOR2	Q9Y618	p.Ser1861Phe	COSM3457785	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340111G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ser1861Tyr	rs777733181	missense variant	-	NC_000012.12:g.124340111G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg1863Pro	rs753298868	missense variant	-	NC_000012.12:g.124340105C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1863Leu	rs753298868	missense variant	-	NC_000012.12:g.124340105C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1863Gln	rs753298868	missense variant	-	NC_000012.12:g.124340105C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1863Trp	rs373538771	missense variant	-	NC_000012.12:g.124340106G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1863Gly	rs373538771	missense variant	-	NC_000012.12:g.124340106G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1864Ile	rs755747581	missense variant	-	NC_000012.12:g.124340102G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp1866Glu	rs369062283	missense variant	-	NC_000012.12:g.124340095A>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1867Val	rs764486729	missense variant	-	NC_000012.12:g.124340093G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1867Thr	rs1363412308	missense variant	-	NC_000012.12:g.124340094C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln1869His	rs753261260	missense variant	-	NC_000012.12:g.124340086C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1872Arg	rs1166204295	missense variant	-	NC_000012.12:g.124340078G>C	TOPMed
NCOR2	Q9Y618	p.His1876Tyr	rs202106373	missense variant	-	NC_000012.12:g.124340067G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1876Arg	rs760022821	missense variant	-	NC_000012.12:g.124340066T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Met1880Ile	rs371694854	missense variant	-	NC_000012.12:g.124340053C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1882Cys	COSM6071602	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124340049C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Gly1882Ser	rs1468533121	missense variant	-	NC_000012.12:g.124340049C>T	gnomAD
NCOR2	Q9Y618	p.Ile1883Phe	rs773536939	missense variant	-	NC_000012.12:g.124340046T>A	ExAC
NCOR2	Q9Y618	p.Thr1885Asn	rs367866393	missense variant	-	NC_000012.12:g.124340039G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1886Thr	rs376844948	missense variant	-	NC_000012.12:g.124340037C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1886Ser	rs376844948	missense variant	-	NC_000012.12:g.124340037C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1887Met	rs768479665	missense variant	-	NC_000012.12:g.124340034C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1891Met	rs372374587	missense variant	-	NC_000012.12:g.124340021G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1892His	rs750147352	missense variant	-	NC_000012.12:g.124340018G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1893Met	rs200853446	missense variant	-	NC_000012.12:g.124340015G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1896Ser	rs774603214	missense variant	-	NC_000012.12:g.124337180C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1896Ser	rs774603214	missense variant	-	NC_000012.12:g.124337180C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1897Phe	rs1337703098	missense variant	-	NC_000012.12:g.124337178G>A	gnomAD
NCOR2	Q9Y618	p.Thr1898Ser	rs373637496	missense variant	-	NC_000012.12:g.124337176T>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1901Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124337166G>A	NCI-TCGA
NCOR2	Q9Y618	p.Ser1902Thr	rs775090140	missense variant	-	NC_000012.12:g.124337164A>T	ExAC
NCOR2	Q9Y618	p.Ser1902Leu	rs769728016	missense variant	-	NC_000012.12:g.124337163G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1903Thr	rs1187087560	missense variant	-	NC_000012.12:g.124337161G>T	gnomAD
NCOR2	Q9Y618	p.Val1904Leu	rs375846724	missense variant	-	NC_000012.12:g.124337158C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1904Ile	rs375846724	missense variant	-	NC_000012.12:g.124337158C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1905Gly	rs746678779	missense variant	-	NC_000012.12:g.124337155G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1905His	rs777477283	missense variant	-	NC_000012.12:g.124337154C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1905Leu	rs777477283	missense variant	-	NC_000012.12:g.124337154C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1905Cys	rs746678779	missense variant	-	NC_000012.12:g.124337155G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1906Gln	rs1196263716	missense variant	-	NC_000012.12:g.124337151G>T	gnomAD
NCOR2	Q9Y618	p.Pro1906Thr	rs1274531774	missense variant	-	NC_000012.12:g.124337152G>T	gnomAD
NCOR2	Q9Y618	p.Pro1906Leu	rs1196263716	missense variant	-	NC_000012.12:g.124337151G>A	gnomAD
NCOR2	Q9Y618	p.Ala1907Asp	rs1247879123	missense variant	-	NC_000012.12:g.124337148G>T	gnomAD
NCOR2	Q9Y618	p.Ala1907Val	rs1247879123	missense variant	-	NC_000012.12:g.124337148G>A	gnomAD
NCOR2	Q9Y618	p.Ala1907Pro	rs529940616	missense variant	-	NC_000012.12:g.124337149C>G	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1907Ser	rs529940616	missense variant	-	NC_000012.12:g.124337149C>A	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1908Val	rs1383337657	missense variant	-	NC_000012.12:g.124337145G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1909Ile	rs1284966280	missense variant	-	NC_000012.12:g.124337142G>A	gnomAD
NCOR2	Q9Y618	p.Pro1911Leu	COSM1561776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124337136G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro1912Thr	rs780495645	missense variant	-	NC_000012.12:g.124337134G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1912Ser	rs780495645	missense variant	-	NC_000012.12:g.124337134G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr1914Ser	rs1338723249	missense variant	-	NC_000012.12:g.124337128T>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr1914Ala	rs1338723249	missense variant	-	NC_000012.12:g.124337128T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1918Val	rs1392424266	missense variant	-	NC_000012.12:g.124337116G>C	gnomAD
NCOR2	Q9Y618	p.Gly1919Ser	rs750908364	missense variant	-	NC_000012.12:g.124337113C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1920Ser	rs192319351	missense variant	-	NC_000012.12:g.124337110C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1920Ala	rs1386301961	missense variant	-	NC_000012.12:g.124337109C>G	gnomAD
NCOR2	Q9Y618	p.Thr1921Ile	rs1204041058	missense variant	-	NC_000012.12:g.124337106G>A	TOPMed
NCOR2	Q9Y618	p.Thr1928Pro	rs764393795	missense variant	-	NC_000012.12:g.124337086T>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1929Phe	rs763020025	missense variant	-	NC_000012.12:g.124337083G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu1931Lys	rs1287951065	missense variant	-	NC_000012.12:g.124337077C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1932Arg	rs1428338459	missense variant	-	NC_000012.12:g.124337073G>C	gnomAD
NCOR2	Q9Y618	p.Pro1932Thr	rs775386457	missense variant	-	NC_000012.12:g.124337074G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1932Ser	rs775386457	missense variant	-	NC_000012.12:g.124337074G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Val1933Ile	rs373683334	missense variant	-	NC_000012.12:g.124337071C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1933Phe	rs373683334	missense variant	-	NC_000012.12:g.124337071C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1934Phe	rs1227892025	missense variant	-	NC_000012.12:g.124337066C>A	gnomAD
NCOR2	Q9Y618	p.Lys1937Glu	rs903055254	missense variant	-	NC_000012.12:g.124337059T>C	gnomAD
NCOR2	Q9Y618	p.Ala1939Ser	rs1349994825	missense variant	-	NC_000012.12:g.124337053C>A	gnomAD
NCOR2	Q9Y618	p.Ala1939Val	rs1156955456	missense variant	-	NC_000012.12:g.124337052G>A	TOPMed
NCOR2	Q9Y618	p.Arg1941GlyPheSerTerUnkUnk	COSM6044608	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124337047G>-	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Arg1941Trp	rs776517719	missense variant	-	NC_000012.12:g.124337047G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1941Gln	rs770492724	missense variant	-	NC_000012.12:g.124337046C>T	ExAC,TOPMed
NCOR2	Q9Y618	p.Val1942Ala	rs112531520	missense variant	-	NC_000012.12:g.124337043A>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1942Phe	rs1393264301	missense variant	-	NC_000012.12:g.124337044C>A	gnomAD
NCOR2	Q9Y618	p.Val1942Gly	rs112531520	missense variant	-	NC_000012.12:g.124337043A>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1943Thr	rs771756757	missense variant	-	NC_000012.12:g.124337041C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1943Ser	rs771756757	missense variant	-	NC_000012.12:g.124337041C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1944Gln	rs546270358	missense variant	-	NC_000012.12:g.124337037C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1944Trp	rs564480665	missense variant	-	NC_000012.12:g.124337038G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1944Pro	rs546270358	missense variant	-	NC_000012.12:g.124337037C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1947Trp	rs369817436	missense variant	-	NC_000012.12:g.124337029G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1947Gln	rs932680959	missense variant	-	NC_000012.12:g.124337028C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1948Thr	rs1490501539	missense variant	-	NC_000012.12:g.124337026G>T	gnomAD
NCOR2	Q9Y618	p.Arg1949Gly	rs781762231	missense variant	-	NC_000012.12:g.124337023G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1949Ter	rs781762231	stop gained	-	NC_000012.12:g.124337023G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1949Gln	rs757650627	missense variant	-	NC_000012.12:g.124337022C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1950Thr	rs1040154380	missense variant	-	NC_000012.12:g.124337020C>T	TOPMed
NCOR2	Q9Y618	p.Gly1953Ser	rs377731266	missense variant	-	NC_000012.12:g.124337011C>T	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Gly1953Ala	rs1229296745	missense variant	-	NC_000012.12:g.124337010C>G	gnomAD
NCOR2	Q9Y618	p.His1954Tyr	rs752895291	missense variant	-	NC_000012.12:g.124337008G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu1957Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124336998A>C	NCI-TCGA
NCOR2	Q9Y618	p.Leu1957Pro	rs1368931541	missense variant	-	NC_000012.12:g.124336998A>G	gnomAD
NCOR2	Q9Y618	p.Ala1958Thr	rs753831136	missense variant	-	NC_000012.12:g.124336996C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1958Ser	rs753831136	missense variant	-	NC_000012.12:g.124336996C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1958Val	rs766352960	missense variant	-	NC_000012.12:g.124336995G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys1959Gln	rs760458961	missense variant	-	NC_000012.12:g.124336993T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1960His	rs1414341772	missense variant	-	NC_000012.12:g.124336989G>T	TOPMed
NCOR2	Q9Y618	p.Pro1961Leu	rs924122482	missense variant	-	NC_000012.12:g.124336986G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1963His	rs368978062	missense variant	-	NC_000012.12:g.124336980C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1963Cys	rs771431225	missense variant	-	NC_000012.12:g.124336981G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1963Gly	rs771431225	missense variant	-	NC_000012.12:g.124336981G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1964LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124336962_124336978GCGGGCTCCAGCCCGGA>-	NCI-TCGA
NCOR2	Q9Y618	p.Ser1964Cys	rs774145486	missense variant	-	NC_000012.12:g.124336977G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1965Arg	rs746252118	missense variant	-	NC_000012.12:g.124336975C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1969Thr	rs747426729	missense variant	-	NC_000012.12:g.124336963C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1970Ala	rs1210705252	missense variant	-	NC_000012.12:g.124336960A>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1971Tyr	rs1484961232	missense variant	-	NC_000012.12:g.124336956G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1971Pro	rs1212676497	missense variant	-	NC_000012.12:g.124336957A>G	TOPMed
NCOR2	Q9Y618	p.Pro1972Ala	rs777958866	missense variant	-	NC_000012.12:g.124336954G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1973Asn	rs758379332	missense variant	-	NC_000012.12:g.124336950C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys1974Asn	rs752981234	missense variant	-	NC_000012.12:g.124336946C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly1975Val	rs779092173	missense variant	-	NC_000012.12:g.124336944C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser1976Trp	rs112233733	missense variant	-	NC_000012.12:g.124336941G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser1976Leu	rs112233733	missense variant	-	NC_000012.12:g.124336941G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1977Asp	rs2230943	missense variant	-	NC_000012.12:g.124336937C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu1977Asp	rs2230943	missense variant	-	NC_000012.12:g.124336937C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1979Gln	rs1466080284	missense variant	-	NC_000012.12:g.124336932C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1979Trp	rs375449858	missense variant	-	NC_000012.12:g.124336933G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1979Gly	rs375449858	missense variant	-	NC_000012.12:g.124336933G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1980Arg	rs1411621804	missense variant	-	NC_000012.12:g.124336929G>C	gnomAD
NCOR2	Q9Y618	p.Pro1980Ser	rs763847492	missense variant	-	NC_000012.12:g.124336930G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val1982Gly	rs762655605	missense variant	-	NC_000012.12:g.124336923A>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1983His	rs777158980	missense variant	-	NC_000012.12:g.124336920G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1983Leu	rs777158980	missense variant	-	NC_000012.12:g.124336920G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro1984Ser	rs1447493276	missense variant	-	NC_000012.12:g.124336918G>A	gnomAD
NCOR2	Q9Y618	p.Val1985Phe	rs771179649	missense variant	-	NC_000012.12:g.124336915C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His1988Tyr	rs1483604015	missense variant	-	NC_000012.12:g.124336906G>A	gnomAD
NCOR2	Q9Y618	p.Ala1989Thr	rs372512195	missense variant	-	NC_000012.12:g.124336903C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1989Pro	rs372512195	missense variant	-	NC_000012.12:g.124336903C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile1991Val	rs748239900	missense variant	-	NC_000012.12:g.124336897T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala1992Thr	rs368518568	missense variant	-	NC_000012.12:g.124336894C>T	ESP,ExAC,TOPMed
NCOR2	Q9Y618	p.Arg1993Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124336890C>G	NCI-TCGA
NCOR2	Q9Y618	p.Arg1993Cys	rs200307018	missense variant	-	NC_000012.12:g.124336891G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg1993His	rs371285197	missense variant	-	NC_000012.12:g.124336890C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1995Ala	rs1396273035	missense variant	-	NC_000012.12:g.124336885G>C	gnomAD
NCOR2	Q9Y618	p.Pro1995His	rs367841669	missense variant	-	NC_000012.12:g.124336884G>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro1995Leu	rs367841669	missense variant	-	NC_000012.12:g.124336884G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala1996Val	rs750434941	missense variant	-	NC_000012.12:g.124336881G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asn1998Ser	rs757198140	missense variant	-	NC_000012.12:g.124336875T>C	ExAC
NCOR2	Q9Y618	p.Asn1998Lys	rs751150139	missense variant	-	NC_000012.12:g.124336874G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu1999Phe	rs763648762	missense variant	-	NC_000012.12:g.124336873G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala2000Val	rs199623076	missense variant	-	NC_000012.12:g.124336869G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2000Glu	rs199623076	missense variant	-	NC_000012.12:g.124336869G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2000Thr	rs2227277	missense variant	-	NC_000012.12:g.124336870C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2001Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124336866G>C	NCI-TCGA
NCOR2	Q9Y618	p.Pro2001Ser	rs2230944	missense variant	-	NC_000012.12:g.124336867G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His2002Pro	rs533590387	missense variant	-	NC_000012.12:g.124336863T>G	1000Genomes
NCOR2	Q9Y618	p.Ala2004Gly	rs115287138	missense variant	-	NC_000012.12:g.124336857G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2004Val	rs115287138	missense variant	-	NC_000012.12:g.124336857G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2004Thr	rs772572204	missense variant	-	NC_000012.12:g.124336858C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2005Asn	rs1205137735	missense variant	-	NC_000012.12:g.124336854C>T	gnomAD
NCOR2	Q9Y618	p.Ser2005Ile	rs1205137735	missense variant	-	NC_000012.12:g.124336854C>A	gnomAD
NCOR2	Q9Y618	p.Pro2006Leu	rs768697193	missense variant	-	NC_000012.12:g.124336851G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp2007Glu	rs780133294	missense variant	-	NC_000012.12:g.124336847G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp2007Glu	rs780133294	missense variant	-	NC_000012.12:g.124336847G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2008Leu	rs756304172	missense variant	-	NC_000012.12:g.124336845G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2009Leu	rs781004006	missense variant	-	NC_000012.12:g.124336842G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2010Pro	rs751521938	missense variant	-	NC_000012.12:g.124336840C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2010Val	rs757979246	missense variant	-	NC_000012.12:g.124336839G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2010Gly	rs757979246	missense variant	-	NC_000012.12:g.124336839G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2011Ser	rs764808784	missense variant	-	NC_000012.12:g.124336837G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2011Leu	rs1458550598	missense variant	-	NC_000012.12:g.124336836G>A	gnomAD
NCOR2	Q9Y618	p.Pro2012Arg	rs1162999237	missense variant	-	NC_000012.12:g.124336833G>C	gnomAD
NCOR2	Q9Y618	p.Pro2012His	rs1162999237	missense variant	-	NC_000012.12:g.124336833G>T	gnomAD
NCOR2	Q9Y618	p.Ser2014Thr	rs767815601	missense variant	-	NC_000012.12:g.124336828A>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2014Leu	rs762352790	missense variant	-	NC_000012.12:g.124336827G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2015Pro	rs768787527	missense variant	-	NC_000012.12:g.124336825C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2016Leu	rs1250257132	missense variant	-	NC_000012.12:g.124336821G>A	gnomAD
NCOR2	Q9Y618	p.Pro2018Leu	rs377720769	missense variant	-	NC_000012.12:g.124336815G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His2019Leu	rs1186402893	missense variant	-	NC_000012.12:g.124336812T>A	TOPMed
NCOR2	Q9Y618	p.Arg2020Pro	rs374660196	missense variant	-	NC_000012.12:g.124336809C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2020Trp	rs746058008	missense variant	-	NC_000012.12:g.124336810G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2020Gln	rs374660196	missense variant	-	NC_000012.12:g.124336809C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2021Lys	rs1347333816	missense variant	-	NC_000012.12:g.124336807C>T	gnomAD
NCOR2	Q9Y618	p.Lys2022Arg	rs747010756	missense variant	-	NC_000012.12:g.124336803T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr2023Ile	rs368744652	missense variant	-	NC_000012.12:g.124336800G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr2023Ser	rs368744652	missense variant	-	NC_000012.12:g.124336800G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln2024Pro	rs1388370732	missense variant	-	NC_000012.12:g.124336797T>G	gnomAD
NCOR2	Q9Y618	p.Ser2025Arg	rs758351174	missense variant	-	NC_000012.12:g.124336793A>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2027His	rs778445335	missense variant	-	NC_000012.12:g.124336788G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2027Leu	rs778445335	missense variant	-	NC_000012.12:g.124336788G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gln2031Glu	rs753503556	missense variant	-	NC_000012.12:g.124336777G>C	ExAC
NCOR2	Q9Y618	p.Glu2032Gln	COSM4849956	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124336774C>G	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Leu2033Gln	rs550851892	missense variant	-	NC_000012.12:g.124336770A>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2033Pro	rs550851892	missense variant	-	NC_000012.12:g.124336770A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2034Lys	rs752116393	missense variant	-	NC_000012.12:g.124336768C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu2035Phe	rs1265730763	missense variant	-	NC_000012.12:g.124336765G>A	gnomAD
NCOR2	Q9Y618	p.Arg2036His	rs775458405	missense variant	-	NC_000012.12:g.124336761C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2036Cys	rs763480105	missense variant	-	NC_000012.12:g.124336762G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu2038Pro	rs927988053	missense variant	-	NC_000012.12:g.124336755A>G	TOPMed
NCOR2	Q9Y618	p.Gly2042Arg	rs753999479	missense variant	-	NC_000012.12:g.124335624C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr2045Cys	rs1253849621	missense variant	-	NC_000012.12:g.124335614T>C	gnomAD
NCOR2	Q9Y618	p.Ser2046Asn	rs766514734	missense variant	-	NC_000012.12:g.124335611C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu2048Lys	rs372303606	missense variant	-	NC_000012.12:g.124335606C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2049Glu	rs761653899	missense variant	-	NC_000012.12:g.124335602C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Val2050Ala	rs1285065563	missense variant	-	NC_000012.12:g.124335599A>G	gnomAD
NCOR2	Q9Y618	p.Pro2052Leu	rs1244151740	missense variant	-	NC_000012.12:g.124335593G>A	gnomAD
NCOR2	Q9Y618	p.Val2053Ile	rs768673077	missense variant	-	NC_000012.12:g.124335591C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2055Leu	rs1411008653	missense variant	-	NC_000012.12:g.124335584G>A	gnomAD
NCOR2	Q9Y618	p.Ser2060Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124335569C>A	NCI-TCGA
NCOR2	Q9Y618	p.Leu2061Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124335566A>G	NCI-TCGA
NCOR2	Q9Y618	p.Thr2062Ala	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124335564T>C	NCI-TCGA
NCOR2	Q9Y618	p.His2063Asn	rs1407497417	missense variant	-	NC_000012.12:g.124335561G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp2064Asn	rs775031589	missense variant	-	NC_000012.12:g.124335558C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2066Arg	rs769263515	missense variant	-	NC_000012.12:g.124335552C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2066Arg	rs769263515	missense variant	-	NC_000012.12:g.124335552C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys2069Asn	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124335541C>A	NCI-TCGA
NCOR2	Q9Y618	p.Lys2069Asn	rs1182761442	missense variant	-	NC_000012.12:g.124335541C>G	gnomAD
NCOR2	Q9Y618	p.His2070Tyr	rs1472224512	missense variant	-	NC_000012.12:g.124335540G>A	gnomAD
NCOR2	Q9Y618	p.Leu2071Val	rs1325406383	missense variant	-	NC_000012.12:g.124335537G>C	gnomAD
NCOR2	Q9Y618	p.Glu2073Ala	rs1255914812	missense variant	-	NC_000012.12:g.124335530T>G	TOPMed
NCOR2	Q9Y618	p.Glu2073Asp	COSM1359884	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124335529C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Leu2074His	rs756804868	missense variant	-	NC_000012.12:g.124335527A>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp2075Asn	rs534563391	missense variant	-	NC_000012.12:g.124335525C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2077Asn	rs1332718101	missense variant	-	NC_000012.12:g.124335518C>T	gnomAD
NCOR2	Q9Y618	p.His2078Tyr	rs755561202	missense variant	-	NC_000012.12:g.124335516G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu2079Val	rs1258251678	missense variant	-	NC_000012.12:g.124335513G>C	TOPMed
NCOR2	Q9Y618	p.Gly2081Glu	rs202085856	missense variant	-	NC_000012.12:g.124335506C>T	TOPMed
NCOR2	Q9Y618	p.Gly2081Trp	rs1164166413	missense variant	-	NC_000012.12:g.124335507C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2084Trp	rs371813927	missense variant	-	NC_000012.12:g.124335498G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2084Gln	rs201766557	missense variant	-	NC_000012.12:g.124335497C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2085Leu	rs1322408087	missense variant	-	NC_000012.12:g.124335494G>A	gnomAD
NCOR2	Q9Y618	p.Gly2089Cys	COSM936701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124335483C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Gly2089Asp	rs201214871	missense variant	-	NC_000012.12:g.124335280C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2090Leu	rs1359171045	missense variant	-	NC_000012.12:g.124335277G>A	gnomAD
NCOR2	Q9Y618	p.Val2091Glu	rs1448197131	missense variant	-	NC_000012.12:g.124335274A>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val2091Met	rs1227868876	missense variant	-	NC_000012.12:g.124335275C>T	TOPMed
NCOR2	Q9Y618	p.Gly2094Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124335265C>T	NCI-TCGA
NCOR2	Q9Y618	p.Gly2094Ser	rs763944351	missense variant	-	NC_000012.12:g.124335266C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly2095Arg	rs762727758	missense variant	-	NC_000012.12:g.124335263C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2095Arg	rs762727758	missense variant	-	NC_000012.12:g.124335263C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2096Lys	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124335260C>T	NCI-TCGA
NCOR2	Q9Y618	p.Ala2098Thr	rs147020677	missense variant	-	NC_000012.12:g.124335254C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2098Val	rs776224523	missense variant	-	NC_000012.12:g.124335253G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.His2099Arg	rs770321544	missense variant	-	NC_000012.12:g.124335250T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2101ThrArg	NCI-TCGA novel	insertion	-	NC_000012.12:g.124335242_124335243insCCTGGT	NCI-TCGA
NCOR2	Q9Y618	p.His2102Gln	rs772732000	missense variant	-	NC_000012.12:g.124335240G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.His2102Tyr	rs1237380938	missense variant	-	NC_000012.12:g.124335242G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.His2102Asn	rs1237380938	missense variant	-	NC_000012.12:g.124335242G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.His2102Arg	rs1209417010	missense variant	-	NC_000012.12:g.124335241T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2103Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124335239G>T	NCI-TCGA
NCOR2	Q9Y618	p.Arg2104Trp	rs749683870	missense variant	-	NC_000012.12:g.124335236G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2105Ser	rs1305386980	missense variant	-	NC_000012.12:g.124335233G>A	gnomAD
NCOR2	Q9Y618	p.Pro2105Leu	rs780497989	missense variant	-	NC_000012.12:g.124335232G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2107Leu	rs1291081651	missense variant	-	NC_000012.12:g.124335226G>A	gnomAD
NCOR2	Q9Y618	p.Gln2110Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.124335218G>A	NCI-TCGA
NCOR2	Q9Y618	p.Pro2111Ala	rs746341430	missense variant	-	NC_000012.12:g.124335215G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2111Arg	rs1165223891	missense variant	-	NC_000012.12:g.124335214G>C	TOPMed
NCOR2	Q9Y618	p.Pro2111Ser	rs746341430	missense variant	-	NC_000012.12:g.124335215G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2112Leu	rs373474834	missense variant	-	NC_000012.12:g.124335211G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2112Pro	rs781375072	missense variant	-	NC_000012.12:g.124335212A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2115Thr	rs777989634	missense variant	-	NC_000012.12:g.124335203G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2115Leu	rs199899276	missense variant	-	NC_000012.12:g.124335202G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2115Gln	rs199899276	missense variant	-	NC_000012.12:g.124335202G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2116Pro	rs764960724	missense variant	-	NC_000012.12:g.124335199A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu2116Met	rs893086396	missense variant	-	NC_000012.12:g.124335200G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln2118His	rs753682867	missense variant	-	NC_000012.12:g.124335192C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gln2118His	rs753682867	missense variant	-	NC_000012.12:g.124335192C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala2120Ser	rs373202860	missense variant	-	NC_000012.12:g.124335188C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2120Thr	rs373202860	missense variant	-	NC_000012.12:g.124335188C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2120Val	rs1025293350	missense variant	-	NC_000012.12:g.124335187G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val2123Ile	rs761515899	missense variant	-	NC_000012.12:g.124335179C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys2124Asn	rs776047622	missense variant	-	NC_000012.12:g.124335174T>A	ExAC
NCOR2	Q9Y618	p.Lys2124Glu	rs1221881422	missense variant	-	NC_000012.12:g.124335176T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln2127Arg	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124335166T>C	NCI-TCGA
NCOR2	Q9Y618	p.Gln2127Glu	rs1320554285	missense variant	-	NC_000012.12:g.124335167G>C	gnomAD
NCOR2	Q9Y618	p.Arg2128Gln	rs746454948	missense variant	-	NC_000012.12:g.124335163C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2128Trp	rs369703653	missense variant	-	NC_000012.12:g.124335164G>A	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Val2129Met	rs776991075	missense variant	-	NC_000012.12:g.124335161C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr2131Ala	rs771415308	missense variant	-	NC_000012.12:g.124335155T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2132Val	rs1295454762	missense variant	-	NC_000012.12:g.124335152G>C	gnomAD
NCOR2	Q9Y618	p.His2135Leu	rs1232007867	missense variant	-	NC_000012.12:g.124335142T>A	TOPMed
NCOR2	Q9Y618	p.Glu2138Asp	rs779090153	missense variant	-	NC_000012.12:g.124334615C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr2145Ser	rs1345530222	missense variant	-	NC_000012.12:g.124334595G>C	gnomAD
NCOR2	Q9Y618	p.Arg2146Gly	rs1301468218	missense variant	-	NC_000012.12:g.124334593G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2146Gln	rs1230932243	missense variant	-	NC_000012.12:g.124334592C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2146Trp	rs1301468218	missense variant	-	NC_000012.12:g.124334593G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.His2147Gln	rs1365940590	missense variant	-	NC_000012.12:g.124334588G>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.His2147Tyr	rs1425174182	missense variant	-	NC_000012.12:g.124334590G>A	TOPMed
NCOR2	Q9Y618	p.His2148Asn	rs998919085	missense variant	-	NC_000012.12:g.124334587G>T	gnomAD
NCOR2	Q9Y618	p.His2148Tyr	rs998919085	missense variant	-	NC_000012.12:g.124334587G>A	gnomAD
NCOR2	Q9Y618	p.Pro2149Ser	rs1167862711	missense variant	-	NC_000012.12:g.124334584G>A	TOPMed
NCOR2	Q9Y618	p.Ser2153Gly	rs1380657148	missense variant	-	NC_000012.12:g.124334572T>C	gnomAD
NCOR2	Q9Y618	p.Ser2153Asn	rs1374504471	missense variant	-	NC_000012.12:g.124334571C>T	TOPMed
NCOR2	Q9Y618	p.Ala2154Thr	rs368425851	missense variant	-	NC_000012.12:g.124334569C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2158Val	rs756814630	missense variant	-	NC_000012.12:g.124334556G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala2158Thr	rs780918834	missense variant	-	NC_000012.12:g.124334557C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2159Thr	rs1444141326	missense variant	-	NC_000012.12:g.124334554G>T	gnomAD
NCOR2	Q9Y618	p.Pro2159Arg	rs1371937906	missense variant	-	NC_000012.12:g.124334553G>C	gnomAD
NCOR2	Q9Y618	p.Tyr2161Phe	rs1195367384	missense variant	-	NC_000012.12:g.124334547T>A	gnomAD
NCOR2	Q9Y618	p.Ala2166Asp	rs762630438	missense variant	-	NC_000012.12:g.124334532G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2167Cys	rs1210107020	missense variant	-	NC_000012.12:g.124334530T>A	gnomAD
NCOR2	Q9Y618	p.Cys2168Ter	NCI-TCGA novel	stop gained	-	NC_000012.12:g.124334525G>T	NCI-TCGA
NCOR2	Q9Y618	p.Cys2168Tyr	rs553396387	missense variant	-	NC_000012.12:g.124334526C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Val2170Phe	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124334521C>A	NCI-TCGA
NCOR2	Q9Y618	p.Val2170Ile	rs761207720	missense variant	-	NC_000012.12:g.124334521C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp2172Asn	rs773702102	missense variant	-	NC_000012.12:g.124334515C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu2173Phe	rs772193263	missense variant	-	NC_000012.12:g.124334512G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg2174His	rs774421685	missense variant	-	NC_000012.12:g.124334508C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg2174Cys	rs761892157	missense variant	-	NC_000012.12:g.124334509G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2175His	rs749475732	missense variant	-	NC_000012.12:g.124334505C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2175Cys	rs768792226	missense variant	-	NC_000012.12:g.124334506G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2176Leu	rs779760728	missense variant	-	NC_000012.12:g.124334502G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2178Asn	rs781292836	missense variant	-	NC_000012.12:g.124334496C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2178Gly	rs376063427	missense variant	-	NC_000012.12:g.124334497T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2180Phe	rs1473466652	missense variant	-	NC_000012.12:g.124334491G>A	gnomAD
NCOR2	Q9Y618	p.Tyr2181His	rs1247274481	missense variant	-	NC_000012.12:g.124334488A>G	TOPMed
NCOR2	Q9Y618	p.Tyr2181Cys	rs1334215741	missense variant	-	NC_000012.12:g.124334487T>C	gnomAD
NCOR2	Q9Y618	p.Leu2182Val	rs751150087	missense variant	-	NC_000012.12:g.124334485G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Leu2182Phe	rs751150087	missense variant	-	NC_000012.12:g.124334485G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2183Leu	rs758038755	missense variant	-	NC_000012.12:g.124334481G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2184His	rs1437052822	missense variant	-	NC_000012.12:g.124334478G>T	gnomAD
NCOR2	Q9Y618	p.Pro2184Ser	rs766718171	missense variant	-	NC_000012.12:g.124334479G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2185Leu	rs761009542	missense variant	-	NC_000012.12:g.124334475G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Asp2186Glu	rs768016051	missense variant	-	NC_000012.12:g.124334471G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His2187Asn	rs1416059180	missense variant	-	NC_000012.12:g.124334470G>T	TOPMed
NCOR2	Q9Y618	p.Ala2189Ser	rs1273892683	missense variant	-	NC_000012.12:g.124334464C>A	gnomAD
NCOR2	Q9Y618	p.Ala2189Val	rs774314459	missense variant	-	NC_000012.12:g.124334463G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2189Asp	rs774314459	missense variant	-	NC_000012.12:g.124334463G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2190Ser	rs1166095857	missense variant	-	NC_000012.12:g.124334461G>A	TOPMed
NCOR2	Q9Y618	p.Pro2190Leu	rs200545066	missense variant	-	NC_000012.12:g.124334460G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2191Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124334458C>T	NCI-TCGA
NCOR2	Q9Y618	p.Ala2191Val	rs1185602829	missense variant	-	NC_000012.12:g.124334457G>A	gnomAD
NCOR2	Q9Y618	p.Arg2192Cys	rs546690978	missense variant	-	NC_000012.12:g.124334455G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2192His	rs370192215	missense variant	-	NC_000012.12:g.124334454C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2193Val	rs771019226	missense variant	-	NC_000012.12:g.124334451C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2193Ser	rs1406745915	missense variant	-	NC_000012.12:g.124334452C>T	gnomAD
NCOR2	Q9Y618	p.Ser2194Tyr	rs377045126	missense variant	-	NC_000012.12:g.124334448G>T	ESP,gnomAD
NCOR2	Q9Y618	p.Pro2195Thr	rs746945597	missense variant	-	NC_000012.12:g.124334446G>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2195Ser	rs746945597	missense variant	-	NC_000012.12:g.124334446G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.His2196Asp	rs372728146	missense variant	-	NC_000012.12:g.124334443G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His2196Asn	rs372728146	missense variant	-	NC_000012.12:g.124334443G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His2196Tyr	rs372728146	missense variant	-	NC_000012.12:g.124334443G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His2196Pro	rs1436185490	missense variant	-	NC_000012.12:g.124334442T>G	gnomAD
NCOR2	Q9Y618	p.Ser2197Arg	rs181072341	missense variant	-	NC_000012.12:g.124334438G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2198Lys	rs1033579281	missense variant	-	NC_000012.12:g.124334437C>T	TOPMed
NCOR2	Q9Y618	p.Gly2200Cys	rs750816925	missense variant	-	NC_000012.12:g.124334431C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys2201Glu	rs757808861	missense variant	-	NC_000012.12:g.124334428T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2203Thr	rs200130270	missense variant	-	NC_000012.12:g.124333278A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2203Pro	rs200130270	missense variant	-	NC_000012.12:g.124333278A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2203Phe	rs772075378	missense variant	-	NC_000012.12:g.124333277G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2204Leu	rs1203554753	missense variant	-	NC_000012.12:g.124333274G>A	TOPMed
NCOR2	Q9Y618	p.Pro2206Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124333269G>T	NCI-TCGA
NCOR2	Q9Y618	p.Pro2206Arg	rs761605201	missense variant	-	NC_000012.12:g.124333268G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Asn2207Lys	rs1240837429	missense variant	-	NC_000012.12:g.124333264G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys2208Glu	rs1462697436	missense variant	-	NC_000012.12:g.124333263T>C	TOPMed
NCOR2	Q9Y618	p.Thr2209Arg	rs749006415	missense variant	-	NC_000012.12:g.124333259G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr2209Pro	rs1472840	missense variant	-	NC_000012.12:g.124333260T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr2209Met	rs749006415	missense variant	-	NC_000012.12:g.124333259G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2210Leu	rs769264421	missense variant	-	NC_000012.12:g.124333256G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2212Phe	rs1036525342	missense variant	-	NC_000012.12:g.124333249C>G	TOPMed
NCOR2	Q9Y618	p.Gly2213Ser	rs1295930727	missense variant	-	NC_000012.12:g.124333248C>T	gnomAD
NCOR2	Q9Y618	p.Gly2215Val	COSM6135993	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124333241C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Gly2215Ala	rs1359282987	missense variant	-	NC_000012.12:g.124333241C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2218Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124333232C>T	NCI-TCGA
NCOR2	Q9Y618	p.Gly2218Val	rs779205903	missense variant	-	NC_000012.12:g.124333232C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2218Ala	rs779205903	missense variant	-	NC_000012.12:g.124333232C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2218Ser	rs61754987	missense variant	-	NC_000012.12:g.124333233C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile2219Phe	rs755099933	missense variant	-	NC_000012.12:g.124333230T>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile2219Asn	rs753908360	missense variant	-	NC_000012.12:g.124333229A>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ile2219Thr	rs753908360	missense variant	-	NC_000012.12:g.124333229A>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2221His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124333223G>T	NCI-TCGA
NCOR2	Q9Y618	p.Pro2221Ser	rs1299566313	missense variant	-	NC_000012.12:g.124333224G>A	TOPMed
NCOR2	Q9Y618	p.Pro2221Leu	rs376954852	missense variant	-	NC_000012.12:g.124333223G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val2222Leu	rs750252948	missense variant	-	NC_000012.12:g.124333221C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val2222Met	rs750252948	missense variant	-	NC_000012.12:g.124333221C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2224Ser	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124333215G>A	NCI-TCGA
NCOR2	Q9Y618	p.Pro2224Thr	rs1190607262	missense variant	-	NC_000012.12:g.124333215G>T	gnomAD
NCOR2	Q9Y618	p.Pro2224Leu	rs1475827011	missense variant	-	NC_000012.12:g.124333214G>A	gnomAD
NCOR2	Q9Y618	p.Pro2225Leu	rs199516198	missense variant	-	NC_000012.12:g.124333211G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met2228Thr	rs912699519	missense variant	-	NC_000012.12:g.124333202A>G	TOPMed
NCOR2	Q9Y618	p.Thr2229Met	rs774943647	missense variant	-	NC_000012.12:g.124333199G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2231Ala	rs375757338	missense variant	-	NC_000012.12:g.124333194G>C	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2231Gln	rs1305192306	missense variant	-	NC_000012.12:g.124333193G>T	gnomAD
NCOR2	Q9Y618	p.Pro2231Leu	rs1305192306	missense variant	-	NC_000012.12:g.124333193G>A	gnomAD
NCOR2	Q9Y618	p.Pro2231Ser	rs375757338	missense variant	-	NC_000012.12:g.124333194G>A	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.His2233Tyr	rs552079235	missense variant	-	NC_000012.12:g.124333188G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His2233Asn	rs552079235	missense variant	-	NC_000012.12:g.124333188G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His2233Arg	rs779572859	missense variant	-	NC_000012.12:g.124333187T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Arg2235Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124333182G>C	NCI-TCGA
NCOR2	Q9Y618	p.Arg2235Gln	rs560169210	missense variant	-	NC_000012.12:g.124333181C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2235Trp	rs753999562	missense variant	-	NC_000012.12:g.124333182G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2237Ser	rs1167178433	missense variant	-	NC_000012.12:g.124333176C>A	gnomAD
NCOR2	Q9Y618	p.Val2238Met	rs201904368	missense variant	-	NC_000012.12:g.124333173C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Tyr2239His	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124333170A>G	NCI-TCGA
NCOR2	Q9Y618	p.Pro2240Leu	rs761498985	missense variant	-	NC_000012.12:g.124333166G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2240Ala	rs1407779271	missense variant	-	NC_000012.12:g.124333167G>C	TOPMed
NCOR2	Q9Y618	p.Leu2242Met	rs1251692188	missense variant	-	NC_000012.12:g.124333161G>T	gnomAD
NCOR2	Q9Y618	p.Arg2244Trp	rs1176209041	missense variant	-	NC_000012.12:g.124333155G>A	gnomAD
NCOR2	Q9Y618	p.Arg2244Gln	rs764050780	missense variant	-	NC_000012.12:g.124333154C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2246Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124333148C>A	NCI-TCGA
NCOR2	Q9Y618	p.Gln2248Glu	rs762830157	missense variant	-	NC_000012.12:g.124333143G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr2249Met	rs376860961	missense variant	-	NC_000012.12:g.124333139G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2250Gly	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124333136T>C	NCI-TCGA
NCOR2	Q9Y618	p.Glu2250GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000012.12:g.124333136_124333137insC	NCI-TCGA
NCOR2	Q9Y618	p.Arg2253Thr	rs769109806	missense variant	-	NC_000012.12:g.124332465C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2253Ser	rs80320256	missense variant	-	NC_000012.12:g.124332464C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met2254Val	COSM936696	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124332463T>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Ser2256Phe	rs368706721	missense variant	-	NC_000012.12:g.124332456G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2256Cys	rs368706721	missense variant	-	NC_000012.12:g.124332456G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys2257Glu	rs770276940	missense variant	-	NC_000012.12:g.124332454T>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2260Ser	rs374131072	missense variant	-	NC_000012.12:g.124332445C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2260Asp	rs1453439082	missense variant	-	NC_000012.12:g.124332444C>T	gnomAD
NCOR2	Q9Y618	p.Thr2262Ala	rs76392753	missense variant	-	NC_000012.12:g.124332439T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr2262Asn	rs1260934465	missense variant	-	NC_000012.12:g.124332438G>T	gnomAD
NCOR2	Q9Y618	p.Thr2262Pro	rs76392753	missense variant	-	NC_000012.12:g.124332439T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Gln2264Arg	rs1486507274	missense variant	-	NC_000012.12:g.124332432T>C	gnomAD
NCOR2	Q9Y618	p.Pro2265Leu	rs1280798216	missense variant	-	NC_000012.12:g.124332429G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2267Val	rs758178960	missense variant	-	NC_000012.12:g.124332423G>A	ExAC
NCOR2	Q9Y618	p.Ser2270Thr	rs1216638120	missense variant	-	NC_000012.12:g.124332414C>G	gnomAD
NCOR2	Q9Y618	p.Thr2273Ile	rs1346563481	missense variant	-	NC_000012.12:g.124332405G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2274Lys	rs765095254	missense variant	-	NC_000012.12:g.124332403C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2275Ile	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124332399C>A	NCI-TCGA
NCOR2	Q9Y618	p.Ser2275Arg	rs765962030	missense variant	-	NC_000012.12:g.124332398G>C	ExAC
NCOR2	Q9Y618	p.Ser2275Gly	rs370183566	missense variant	-	NC_000012.12:g.124332400T>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2278Ser	rs375952313	missense variant	-	NC_000012.12:g.124332391C>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2278Thr	rs375952313	missense variant	-	NC_000012.12:g.124332391C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Met2279Val	rs1313859236	missense variant	-	NC_000012.12:g.124332388T>C	gnomAD
NCOR2	Q9Y618	p.Met2279Ile	rs1055379975	missense variant	-	NC_000012.12:g.124332386C>T	TOPMed
NCOR2	Q9Y618	p.Val2280Gly	rs374133031	missense variant	-	NC_000012.12:g.124332384A>C	ESP,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys2283Asn	COSM415969	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124332374C>G	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Lys2284Gln	rs775884977	missense variant	-	NC_000012.12:g.124332373T>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile2287Met	COSM3457776	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124332362G>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Lys2289Thr	COSM936694	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124332357T>G	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Lys2290Asn	rs974442586	missense variant	-	NC_000012.12:g.124332353C>A	TOPMed
NCOR2	Q9Y618	p.Leu2291Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124332352G>T	NCI-TCGA
NCOR2	Q9Y618	p.Thr2293Ala	rs1476138729	missense variant	-	NC_000012.12:g.124332346T>C	gnomAD
NCOR2	Q9Y618	p.Thr2293Ser	rs535981348	missense variant	-	NC_000012.12:g.124332345G>C	ExAC,gnomAD
NCOR2	Q9Y618	p.His2294Gln	rs747292908	missense variant	-	NC_000012.12:g.124332341G>C	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2296Leu	rs945847037	missense variant	-	NC_000012.12:g.124332336C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2296Gln	rs945847037	missense variant	-	NC_000012.12:g.124332336C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2296Trp	rs370685396	missense variant	-	NC_000012.12:g.124332337G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asn2297Thr	rs1298768569	missense variant	-	NC_000012.12:g.124332333T>G	gnomAD
NCOR2	Q9Y618	p.Glu2298Lys	rs772219677	missense variant	-	NC_000012.12:g.124332331C>T	ExAC
NCOR2	Q9Y618	p.Pro2299Ser	rs377394425	missense variant	-	NC_000012.12:g.124332328G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2299Ala	rs377394425	missense variant	-	NC_000012.12:g.124332328G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2300Ter	COSM3811408	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.124332325C>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asn2302Asp	rs138341911	missense variant	-	NC_000012.12:g.124332319T>C	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Asn2302His	rs138341911	missense variant	-	NC_000012.12:g.124332319T>G	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Asn2302Ile	rs1469850631	missense variant	-	NC_000012.12:g.124330898T>A	gnomAD
NCOR2	Q9Y618	p.Asn2302Ser	rs1469850631	missense variant	-	NC_000012.12:g.124330898T>C	gnomAD
NCOR2	Q9Y618	p.Ile2303Val	rs1253709561	missense variant	-	NC_000012.12:g.124330896T>C	gnomAD
NCOR2	Q9Y618	p.Ser2304Asn	rs780828763	missense variant	-	NC_000012.12:g.124330892C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2304Arg	rs1287003742	missense variant	-	NC_000012.12:g.124330891G>T	gnomAD
NCOR2	Q9Y618	p.Ser2304Gly	rs2228587	missense variant	-	NC_000012.12:g.124330893T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2306Arg	rs1206063681	missense variant	-	NC_000012.12:g.124330886G>C	gnomAD
NCOR2	Q9Y618	p.Gly2307Arg	rs1253736652	missense variant	-	NC_000012.12:g.124330884C>T	gnomAD
NCOR2	Q9Y618	p.Thr2308Met	rs756901061	missense variant	-	NC_000012.12:g.124330880G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2309Gln	rs765580768	missense variant	-	NC_000012.12:g.124330878C>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala2315Thr	rs368715193	missense variant	-	NC_000012.12:g.124330860C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr2317Ile	rs1433766769	missense variant	-	NC_000012.12:g.124330853G>A	gnomAD
NCOR2	Q9Y618	p.Gly2318Ter	rs761117621	stop gained	-	NC_000012.12:g.124330851C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly2318Arg	rs761117621	missense variant	-	NC_000012.12:g.124330851C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly2318Glu	rs1399848796	missense variant	-	NC_000012.12:g.124330850C>T	gnomAD
NCOR2	Q9Y618	p.Gly2318Ala	rs1399848796	missense variant	-	NC_000012.12:g.124330850C>G	gnomAD
NCOR2	Q9Y618	p.Met2322Val	rs1437205741	missense variant	-	NC_000012.12:g.124327628T>C	gnomAD
NCOR2	Q9Y618	p.Met2322Thr	rs935417167	missense variant	-	NC_000012.12:g.124327627A>G	TOPMed
NCOR2	Q9Y618	p.Tyr2324Cys	rs370064389	missense variant	-	NC_000012.12:g.124327621T>C	TOPMed
NCOR2	Q9Y618	p.Tyr2324Asn	rs780460583	missense variant	-	NC_000012.12:g.124327622A>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Tyr2324Phe	rs370064389	missense variant	-	NC_000012.12:g.124327621T>A	TOPMed
NCOR2	Q9Y618	p.Arg2325Lys	rs1041498688	missense variant	-	NC_000012.12:g.124327618C>T	TOPMed
NCOR2	Q9Y618	p.Ser2326Asn	rs1184017451	missense variant	-	NC_000012.12:g.124327615C>T	TOPMed
NCOR2	Q9Y618	p.Gln2327Lys	rs1379594035	missense variant	-	NC_000012.12:g.124327613G>T	TOPMed
NCOR2	Q9Y618	p.Ala2328Val	rs750726938	missense variant	-	NC_000012.12:g.124327609G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2328Thr	rs947254838	missense variant	-	NC_000012.12:g.124327610C>T	TOPMed
NCOR2	Q9Y618	p.Ala2328Glu	rs750726938	missense variant	-	NC_000012.12:g.124327609G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Val2329Met	rs201624482	missense variant	-	NC_000012.12:g.124327607C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.His2332Tyr	rs1317324666	missense variant	-	NC_000012.12:g.124327598G>A	gnomAD
NCOR2	Q9Y618	p.Ala2333Val	COSM4039886	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124327594G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Met2337Val	rs1453794674	missense variant	-	NC_000012.12:g.124327583T>C	TOPMed
NCOR2	Q9Y618	p.Met2337Ile	rs1239706649	missense variant	-	NC_000012.12:g.124327581C>T	gnomAD
NCOR2	Q9Y618	p.Ala2341Thr	rs763334125	missense variant	-	NC_000012.12:g.124327571C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile2342Val	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124327568T>C	NCI-TCGA
NCOR2	Q9Y618	p.Met2348Thr	rs376572172	missense variant	-	NC_000012.12:g.124327549A>G	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Lys2350Glu	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124327544T>C	NCI-TCGA
NCOR2	Q9Y618	p.Tyr2351His	rs765495545	missense variant	-	NC_000012.12:g.124327541A>G	ExAC
NCOR2	Q9Y618	p.Gln2353Arg	rs1390609603	missense variant	-	NC_000012.12:g.124327534T>C	gnomAD
NCOR2	Q9Y618	p.Trp2354Arg	rs759407295	missense variant	-	NC_000012.12:g.124327532A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu2356Gly	rs776245999	missense variant	-	NC_000012.12:g.124327525T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2357Pro	rs770920489	missense variant	-	NC_000012.12:g.124327523A>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2357Thr	rs770920489	missense variant	-	NC_000012.12:g.124327523A>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2358Leu	rs375005017	missense variant	-	NC_000012.12:g.124327519G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2359Leu	rs199616664	missense variant	-	NC_000012.12:g.124327516G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2360Pro	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124327513A>G	NCI-TCGA
NCOR2	Q9Y618	p.Ser2361Gly	rs374652701	missense variant	-	NC_000012.12:g.124327511T>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2362Thr	rs187448656	missense variant	-	NC_000012.12:g.124327508C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2362Gly	rs1285061389	missense variant	-	NC_000012.12:g.124327507G>C	gnomAD
NCOR2	Q9Y618	p.Asn2363His	rs370212035	missense variant	-	NC_000012.12:g.124327505T>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2364Thr	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124327502C>T	NCI-TCGA
NCOR2	Q9Y618	p.Pro2367Thr	rs758564156	missense variant	-	NC_000012.12:g.124327493G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2368Met	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124327490G>T	NCI-TCGA
NCOR2	Q9Y618	p.Asn2369Asp	COSM692432	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124327487T>C	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Asn2369Ile	rs574110280	missense variant	-	NC_000012.12:g.124327486T>A	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Asn2369Ser	rs574110280	missense variant	-	NC_000012.12:g.124327486T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2370Val	rs765585216	missense variant	-	NC_000012.12:g.124327483G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2371Asn	rs753712242	missense variant	-	NC_000012.12:g.124327480C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2373Gly	rs760736813	missense variant	-	NC_000012.12:g.124327475T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2373Arg	rs1376868688	missense variant	-	NC_000012.12:g.124327473G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2375Ser	COSM4840515	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.124327469G>A	NCI-TCGA Cosmic
NCOR2	Q9Y618	p.Pro2375Leu	rs1398470906	missense variant	-	NC_000012.12:g.124327468G>A	TOPMed
NCOR2	Q9Y618	p.Ala2376Val	rs771941750	missense variant	-	NC_000012.12:g.124327465G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2376Thr	rs773013649	missense variant	-	NC_000012.12:g.124327466C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Ile2380Leu	rs200471155	missense variant	-	NC_000012.12:g.124327454T>G	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ile2380Val	rs200471155	missense variant	-	NC_000012.12:g.124327454T>C	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Ala2382Asp	NCI-TCGA novel	missense variant	-	NC_000012.12:g.124327447G>T	NCI-TCGA
NCOR2	Q9Y618	p.Ala2382Thr	rs201513599	missense variant	-	NC_000012.12:g.124327448C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2382Gly	rs999492095	missense variant	-	NC_000012.12:g.124327447G>C	TOPMed
NCOR2	Q9Y618	p.Ala2383Thr	rs1259824458	missense variant	-	NC_000012.12:g.124327445C>T	gnomAD
NCOR2	Q9Y618	p.Asp2384Glu	rs375299131	missense variant	-	NC_000012.12:g.124327440G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2385Arg	rs373620221	missense variant	-	NC_000012.12:g.124327439C>T	ESP,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2386Gln	rs552340226	missense variant	-	NC_000012.12:g.124327435C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Arg2386Trp	rs577903613	missense variant	-	NC_000012.12:g.124327436G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2387Thr	rs758931886	missense variant	-	NC_000012.12:g.124327432C>G	ExAC
NCOR2	Q9Y618	p.His2389Arg	rs201100257	missense variant	-	NC_000012.12:g.124327426T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr2390Ala	rs1398484546	missense variant	-	NC_000012.12:g.124327424T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2391His	rs375362447	missense variant	-	NC_000012.12:g.124327420A>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr2392Ile	rs766258727	missense variant	-	NC_000012.12:g.124327417G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2393Leu	rs368691194	missense variant	-	NC_000012.12:g.124327414G>A	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2393Trp	rs368691194	missense variant	-	NC_000012.12:g.124327414G>C	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2397Ser	rs199762590	missense variant	-	NC_000012.12:g.124326365C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2397Arg	rs199762590	missense variant	-	NC_000012.12:g.124326365C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2398Arg	rs781032831	missense variant	-	NC_000012.12:g.124326362C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly2398Glu	rs1302049205	missense variant	-	NC_000012.12:g.124326361C>T	TOPMed
NCOR2	Q9Y618	p.Ala2400Thr	rs757056972	missense variant	-	NC_000012.12:g.124326356C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Lys2401Glu	rs1218837622	missense variant	-	NC_000012.12:g.124326353T>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Val2402Asp	rs1354513288	missense variant	-	NC_000012.12:g.124326349A>T	gnomAD
NCOR2	Q9Y618	p.Pro2406Leu	rs1322834666	missense variant	-	NC_000012.12:g.124326337G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2408Thr	rs1057391751	missense variant	-	NC_000012.12:g.124326331C>G	gnomAD
NCOR2	Q9Y618	p.Ser2408Ile	rs1057391751	missense variant	-	NC_000012.12:g.124326331C>A	gnomAD
NCOR2	Q9Y618	p.Arg2409Gln	rs377742489	missense variant	-	NC_000012.12:g.124326328C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys2410Ile	rs777601321	missense variant	-	NC_000012.12:g.124326325T>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala2411Val	rs758304924	missense variant	-	NC_000012.12:g.124326322G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2414Ala	rs964951999	missense variant	-	NC_000012.12:g.124326314G>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2414Leu	rs752194984	missense variant	-	NC_000012.12:g.124326313G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2414Ser	rs964951999	missense variant	-	NC_000012.12:g.124326314G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2415Val	rs201708257	missense variant	-	NC_000012.12:g.124326310G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2416Leu	rs753531077	missense variant	-	NC_000012.12:g.124326307G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2416Gln	rs753531077	missense variant	-	NC_000012.12:g.124326307G>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2418Pro	rs762276158	missense variant	-	NC_000012.12:g.124326301A>G	ExAC,gnomAD
NCOR2	Q9Y618	p.Ala2419Ser	rs774818684	missense variant	-	NC_000012.12:g.124326299C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2419Val	rs769068205	missense variant	-	NC_000012.12:g.124326298G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2420Phe	rs775472913	missense variant	-	NC_000012.12:g.124326295G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Gly2421Arg	rs1367727521	missense variant	-	NC_000012.12:g.124326293C>G	gnomAD
NCOR2	Q9Y618	p.Asp2422Tyr	rs988871778	missense variant	-	NC_000012.12:g.124326290C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Asp2422Asn	rs988871778	missense variant	-	NC_000012.12:g.124326290C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2423Gln	rs1328192855	missense variant	-	NC_000012.12:g.124326286C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2423Leu	rs1328192855	missense variant	-	NC_000012.12:g.124326286C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2425Ser	rs745889915	missense variant	-	NC_000012.12:g.124326281G>A	ExAC,TOPMed
NCOR2	Q9Y618	p.Glu2433Lys	rs1002391549	missense variant	-	NC_000012.12:g.124326257C>T	TOPMed
NCOR2	Q9Y618	p.Glu2433Gly	rs771099650	missense variant	-	NC_000012.12:g.124326256T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Cys2436Tyr	rs777598200	missense variant	-	NC_000012.12:g.124326247C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2438Cys	rs369730227	missense variant	-	NC_000012.12:g.124326242G>A	ESP,ExAC,gnomAD
NCOR2	Q9Y618	p.Arg2438His	rs375097070	missense variant	-	NC_000012.12:g.124326241C>T	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2438Pro	rs375097070	missense variant	-	NC_000012.12:g.124326241C>G	ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2439Leu	rs200604426	missense variant	-	NC_000012.12:g.124326238C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2439Trp	rs1244374022	missense variant	-	NC_000012.12:g.124326239G>A	gnomAD
NCOR2	Q9Y618	p.Arg2439Gln	rs200604426	missense variant	-	NC_000012.12:g.124326238C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr2440Met	rs754553165	missense variant	-	NC_000012.12:g.124326235G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2441Leu	rs766163267	missense variant	-	NC_000012.12:g.124326232G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2445His	rs751919228	missense variant	-	NC_000012.12:g.124326220C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Arg2445Cys	rs760358213	missense variant	-	NC_000012.12:g.124326221G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Val2446Met	rs764489855	missense variant	-	NC_000012.12:g.124326218C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Trp2447Leu	rs1296509600	missense variant	-	NC_000012.12:g.124326214C>A	gnomAD
NCOR2	Q9Y618	p.Asp2449Asn	rs1027083621	missense variant	-	NC_000012.12:g.124326209C>T	gnomAD
NCOR2	Q9Y618	p.Ser2452Leu	rs1473474902	missense variant	-	NC_000012.12:g.124326199G>A	TOPMed
NCOR2	Q9Y618	p.Ala2454Thr	rs1412887711	missense variant	-	NC_000012.12:g.124326194C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Thr2457Ala	rs765753587	missense variant	-	NC_000012.12:g.124325578T>C	ExAC,gnomAD
NCOR2	Q9Y618	p.Thr2457Met	rs1026261301	missense variant	-	NC_000012.12:g.124325577G>A	TOPMed
NCOR2	Q9Y618	p.Asn2462Asp	rs995765280	missense variant	-	NC_000012.12:g.124325563T>C	TOPMed
NCOR2	Q9Y618	p.Met2466Ile	rs1388925128	missense variant	-	NC_000012.12:g.124325549C>G	TOPMed
NCOR2	Q9Y618	p.Arg2467Gln	rs200312114	missense variant	-	NC_000012.12:g.124325547C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Leu2468Gln	rs766439355	missense variant	-	NC_000012.12:g.124325544A>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2470Val	rs773493099	missense variant	-	NC_000012.12:g.124325538G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2470Thr	rs528112018	missense variant	-	NC_000012.12:g.124325539C>T	1000Genomes,ExAC,gnomAD
NCOR2	Q9Y618	p.Gly2471Asp	rs1342977330	missense variant	-	NC_000012.12:g.124325535C>T	TOPMed
NCOR2	Q9Y618	p.Val2472Ile	rs1421195924	missense variant	-	NC_000012.12:g.124325533C>T	gnomAD
NCOR2	Q9Y618	p.Ala2474Val	rs367615636	missense variant	-	NC_000012.12:g.124325526G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2474Ser	rs748010582	missense variant	-	NC_000012.12:g.124325527C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ser2475Phe	rs1349672396	missense variant	-	NC_000012.12:g.124325523G>A	gnomAD
NCOR2	Q9Y618	p.Pro2477Ser	rs1421127756	missense variant	-	NC_000012.12:g.124325518G>A	gnomAD
NCOR2	Q9Y618	p.Pro2477Leu	rs1192764789	missense variant	-	NC_000012.12:g.124325517G>A	TOPMed
NCOR2	Q9Y618	p.Pro2478Ser	rs1427785449	missense variant	-	NC_000012.12:g.124325515G>A	TOPMed
NCOR2	Q9Y618	p.Pro2478Leu	rs749208308	missense variant	-	NC_000012.12:g.124325514G>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Pro2478Ala	rs1427785449	missense variant	-	NC_000012.12:g.124325515G>C	TOPMed
NCOR2	Q9Y618	p.Pro2479Leu	rs1177439090	missense variant	-	NC_000012.12:g.124325511G>A	gnomAD
NCOR2	Q9Y618	p.Ala2483Thr	rs745312035	missense variant	-	NC_000012.12:g.124325500C>T	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2483Val	rs1488001578	missense variant	-	NC_000012.12:g.124325499G>A	gnomAD
NCOR2	Q9Y618	p.Ala2483Ser	rs745312035	missense variant	-	NC_000012.12:g.124325500C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2484Val	rs780928167	missense variant	-	NC_000012.12:g.124325496C>A	ExAC,gnomAD
NCOR2	Q9Y618	p.Ser2485Asn	rs1287071742	missense variant	-	NC_000012.12:g.124325493C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2489Asp	rs1245402432	missense variant	-	NC_000012.12:g.124325481G>T	TOPMed
NCOR2	Q9Y618	p.Ala2489Thr	rs77107801	missense variant	-	NC_000012.12:g.124325482C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2490Val	rs754325173	missense variant	-	NC_000012.12:g.124325478C>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gly2490Ala	rs754325173	missense variant	-	NC_000012.12:g.124325478C>G	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Pro2491Leu	rs1222597272	missense variant	-	NC_000012.12:g.124325475G>A	TOPMed
NCOR2	Q9Y618	p.Pro2491Ser	rs1323803481	missense variant	-	NC_000012.12:g.124325476G>A	TOPMed
NCOR2	Q9Y618	p.His2492Arg	rs542753452	missense variant	-	NC_000012.12:g.124325472T>C	1000Genomes
NCOR2	Q9Y618	p.His2493Tyr	rs1402295087	missense variant	-	NC_000012.12:g.124325470G>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2494Thr	rs1052739974	missense variant	-	NC_000012.12:g.124325467C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Ala2494Pro	rs1052739974	missense variant	-	NC_000012.12:g.124325467C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Trp2495Gly	rs985828412	missense variant	-	NC_000012.12:g.124325464A>C	TOPMed,gnomAD
NCOR2	Q9Y618	p.Trp2495Ter	rs1378873505	stop gained	-	NC_000012.12:g.124325462C>T	gnomAD
NCOR2	Q9Y618	p.Trp2495Arg	rs985828412	missense variant	-	NC_000012.12:g.124325464A>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2497Lys	rs1356203889	missense variant	-	NC_000012.12:g.124325458C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2498Asp	rs1282978323	missense variant	-	NC_000012.12:g.124325453C>A	TOPMed,gnomAD
NCOR2	Q9Y618	p.Lys2500Arg	rs1445089258	missense variant	-	NC_000012.12:g.124325448T>C	gnomAD
NCOR2	Q9Y618	p.Ser2505Leu	rs767805948	missense variant	-	NC_000012.12:g.124325433G>A	ExAC,TOPMed,gnomAD
NCOR2	Q9Y618	p.Gln2506Lys	rs1007255615	missense variant	-	NC_000012.12:g.124325431G>T	TOPMed
NCOR2	Q9Y618	p.Glu2508Lys	rs1216174003	missense variant	-	NC_000012.12:g.124325425C>T	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2508Gln	rs1216174003	missense variant	-	NC_000012.12:g.124325425C>G	TOPMed,gnomAD
NCOR2	Q9Y618	p.Glu2514Lys	rs774329880	missense variant	-	NC_000012.12:g.124325407C>T	ExAC,gnomAD
NCOR2	Q9Y618	p.Glu2514Gly	rs1269927020	missense variant	-	NC_000012.12:g.124325406T>C	TOPMed
NCOR2	Q9Y618	p.Glu2514Gln	rs774329880	missense variant	-	NC_000012.12:g.124325407C>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Arg2Lys	COSM3651925	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94467535C>T	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Arg3Gln	rs189646756	missense variant	-	NC_000008.11:g.94467532C>T	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg3Gly	rs145900595	missense variant	-	NC_000008.11:g.94467533G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg3Ter	rs145900595	stop gained	-	NC_000008.11:g.94467533G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg3Pro	rs189646756	missense variant	-	NC_000008.11:g.94467532C>G	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg3Gln	rs189646756	missense variant	-	NC_000008.11:g.94467532C>T	NCI-TCGA,NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Ser4Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94467530A>T	NCI-TCGA
RAD54B	Q9Y620	p.Pro7Arg	rs1221124501	missense variant	-	NC_000008.11:g.94467520G>C	TOPMed
RAD54B	Q9Y620	p.Pro7Ser	rs759575461	missense variant	-	NC_000008.11:g.94467521G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser8Arg	rs142147806	missense variant	-	NC_000008.11:g.94467516A>T	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gln11Ter	rs770808536	stop gained	-	NC_000008.11:g.94467509G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn13Ser	rs1036728129	missense variant	-	NC_000008.11:g.94467502T>C	TOPMed
RAD54B	Q9Y620	p.Asn13Asp	rs773600623	missense variant	-	NC_000008.11:g.94467503T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser14Cys	rs939836944	missense variant	-	NC_000008.11:g.94467499G>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser14Thr	rs147627613	missense variant	-	NC_000008.11:g.94467500A>T	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys16Gln	rs770305570	missense variant	-	NC_000008.11:g.94467494T>G	gnomAD
RAD54B	Q9Y620	p.Lys17Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94467490T>A	NCI-TCGA
RAD54B	Q9Y620	p.Pro18Ser	rs1429760688	missense variant	-	NC_000008.11:g.94467488G>A	gnomAD
RAD54B	Q9Y620	p.Lys19Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94467484T>A	NCI-TCGA
RAD54B	Q9Y620	p.Phe20Ile	COSM1458707	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94467482A>T	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Phe20Cys	COSM1102576	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94467481A>C	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Ile21Leu	rs1343419905	missense variant	-	NC_000008.11:g.94467479T>A	gnomAD
RAD54B	Q9Y620	p.Pro22Leu	rs1414899715	missense variant	-	NC_000008.11:g.94467475G>A	gnomAD
RAD54B	Q9Y620	p.Pro22Thr	rs748255130	missense variant	-	NC_000008.11:g.94467476G>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Arg25Gly	rs781393802	missense variant	-	NC_000008.11:g.94467467T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn27Ile	rs1426010784	missense variant	-	NC_000008.11:g.94467460T>A	gnomAD
RAD54B	Q9Y620	p.Asn27His	rs769043606	missense variant	-	NC_000008.11:g.94467461T>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro28Arg	rs371957108	missense variant	-	NC_000008.11:g.94467457G>C	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro28Leu	rs371957108	missense variant	-	NC_000008.11:g.94467457G>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly29Asp	rs1379509926	missense variant	-	NC_000008.11:g.94467454C>T	TOPMed
RAD54B	Q9Y620	p.Leu30Val	rs28910279	missense variant	-	NC_000008.11:g.94467452G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu30Val	rs28910279	missense variant	-	NC_000008.11:g.94467452G>C	UniProt,dbSNP
RAD54B	Q9Y620	p.Leu30Val	VAR_034430	missense variant	-	NC_000008.11:g.94467452G>C	UniProt
RAD54B	Q9Y620	p.Glu32Gln	rs1167573225	missense variant	-	NC_000008.11:g.94467446C>G	TOPMed
RAD54B	Q9Y620	p.Glu33Asp	COSM1223019	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94467441C>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Thr35Lys	rs1369048461	missense variant	-	NC_000008.11:g.94467436G>T	TOPMed
RAD54B	Q9Y620	p.Pro39Leu	rs116016126	missense variant	-	NC_000008.11:g.94467424G>A	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Asp40Tyr	rs932428397	missense variant	-	NC_000008.11:g.94467422C>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Asp40Glu	rs753445720	missense variant	-	NC_000008.11:g.94467420A>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Asp40Asn	rs932428397	missense variant	-	NC_000008.11:g.94467422C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile41Thr	rs777405675	missense variant	-	NC_000008.11:g.94467418A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu45Lys	rs1295827382	missense variant	-	NC_000008.11:g.94467407C>T	gnomAD
RAD54B	Q9Y620	p.Glu45Asp	rs755562491	missense variant	-	NC_000008.11:g.94467405C>G	ExAC,TOPMed
RAD54B	Q9Y620	p.Gly46Cys	rs752434749	missense variant	-	NC_000008.11:g.94458436C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn51Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94458421T>C	NCI-TCGA
RAD54B	Q9Y620	p.Pro55Leu	rs754545921	missense variant	-	NC_000008.11:g.94458408G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gln57Ter	rs1167471970	stop gained	-	NC_000008.11:g.94458403G>A	gnomAD
RAD54B	Q9Y620	p.Asn58Tyr	rs1460379582	missense variant	-	NC_000008.11:g.94458400T>A	gnomAD
RAD54B	Q9Y620	p.Asp59Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94458397C>A	NCI-TCGA
RAD54B	Q9Y620	p.Ile62Val	rs763039875	missense variant	-	NC_000008.11:g.94458388T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile62Met	rs750235824	missense variant	-	NC_000008.11:g.94458386T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Cys63Tyr	rs1390862990	missense variant	-	NC_000008.11:g.94458384C>T	gnomAD
RAD54B	Q9Y620	p.Leu67Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94458373G>T	NCI-TCGA
RAD54B	Q9Y620	p.Glu70Asp	rs746251354	missense variant	-	NC_000008.11:g.94458362T>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu71Lys	rs776938656	missense variant	-	NC_000008.11:g.94458361C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu71Asp	rs1301622038	missense variant	-	NC_000008.11:g.94458359T>G	gnomAD
RAD54B	Q9Y620	p.Glu71Gln	COSM1489482	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94458361C>G	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Ser72Cys	rs1455850784	missense variant	-	NC_000008.11:g.94458358T>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr73Ile	rs200184918	missense variant	-	NC_000008.11:g.94458354G>A	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg74Ter	rs1157815910	stop gained	-	NC_000008.11:g.94458352T>A	gnomAD
RAD54B	Q9Y620	p.Glu75Gly	rs1416776604	missense variant	-	NC_000008.11:g.94458348T>C	gnomAD
RAD54B	Q9Y620	p.Glu75Ter	COSM1102575	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94458349C>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Asn77Ser	rs760816607	missense variant	-	NC_000008.11:g.94458342T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn77Lys	rs1199707549	missense variant	-	NC_000008.11:g.94458341A>C	gnomAD
RAD54B	Q9Y620	p.Arg79Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94458336C>A	NCI-TCGA
RAD54B	Q9Y620	p.Asp80Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94458334C>A	NCI-TCGA
RAD54B	Q9Y620	p.Asp80Val	rs112882967	missense variant	-	NC_000008.11:g.94458333T>A	gnomAD
RAD54B	Q9Y620	p.Asp80Gly	rs112882967	missense variant	-	NC_000008.11:g.94458333T>C	gnomAD
RAD54B	Q9Y620	p.Asn81Ser	rs1266538531	missense variant	-	NC_000008.11:g.94458330T>C	gnomAD
RAD54B	Q9Y620	p.Ser83Gly	rs35973866	missense variant	-	NC_000008.11:g.94458325T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly84Arg	rs746441406	missense variant	-	NC_000008.11:g.94458322C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys85Arg	rs1315200957	missense variant	-	NC_000008.11:g.94458318T>C	gnomAD
RAD54B	Q9Y620	p.Pro91Leu	rs115899389	missense variant	-	NC_000008.11:g.94458300G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro91Ser	rs115900589	missense variant	-	NC_000008.11:g.94458301G>A	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu93Pro	rs780901315	missense variant	-	NC_000008.11:g.94458294A>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu93Gln	rs780901315	missense variant	-	NC_000008.11:g.94458294A>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr95Ile	rs1335350239	missense variant	-	NC_000008.11:g.94458288G>A	TOPMed
RAD54B	Q9Y620	p.Asp97His	rs2919661	missense variant	-	NC_000008.11:g.94458283C>G	UniProt,dbSNP
RAD54B	Q9Y620	p.Asp97His	VAR_037885	missense variant	-	NC_000008.11:g.94458283C>G	UniProt
RAD54B	Q9Y620	p.Asp97His	rs2919661	missense variant	-	NC_000008.11:g.94458283C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro98Leu	rs148525625	missense variant	-	NC_000008.11:g.94458279G>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro99Thr	rs1407702193	missense variant	-	NC_000008.11:g.94458277G>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro99Ser	rs1407702193	missense variant	-	NC_000008.11:g.94458277G>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.His100Pro	rs61758786	missense variant	-	NC_000008.11:g.94458273T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His100Tyr	rs1176460241	missense variant	-	NC_000008.11:g.94458274G>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr101Ser	rs1426736288	missense variant	-	NC_000008.11:g.94458271T>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.His103Tyr	COSM3925719	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94411313G>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.His103Asp	COSM454960	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94411313G>C	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Ser104Leu	rs780128897	missense variant	-	NC_000008.11:g.94411309G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ala105Ser	rs750878874	missense variant	-	NC_000008.11:g.94411307C>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ala105Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94411307C>T	NCI-TCGA
RAD54B	Q9Y620	p.Pro106Ser	rs1442119215	missense variant	-	NC_000008.11:g.94411304G>A	gnomAD
RAD54B	Q9Y620	p.Pro106Ala	rs1442119215	missense variant	-	NC_000008.11:g.94411304G>C	gnomAD
RAD54B	Q9Y620	p.Glu108Ter	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94411298C>A	NCI-TCGA
RAD54B	Q9Y620	p.Val109Ile	rs1263882640	missense variant	-	NC_000008.11:g.94411295C>T	TOPMed
RAD54B	Q9Y620	p.Val109Glu	rs1041009245	missense variant	-	NC_000008.11:g.94411294A>T	TOPMed
RAD54B	Q9Y620	p.Ala110Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94411292C>A	NCI-TCGA
RAD54B	Q9Y620	p.Ser112Pro	rs143723079	missense variant	-	NC_000008.11:g.94411286A>G	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys113Gln	rs1261716480	missense variant	-	NC_000008.11:g.94411283T>G	TOPMed
RAD54B	Q9Y620	p.Glu114Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94411279T>C	NCI-TCGA
RAD54B	Q9Y620	p.Glu114Asp	rs1197704971	missense variant	-	NC_000008.11:g.94411278T>G	gnomAD
RAD54B	Q9Y620	p.Gln115His	rs754253078	missense variant	-	NC_000008.11:g.94411275T>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu116Lys	rs764595338	missense variant	-	NC_000008.11:g.94411274C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu116Gly	rs1338718485	missense variant	-	NC_000008.11:g.94411273T>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu117Ter	rs1362176523	stop gained	-	NC_000008.11:g.94411271C>A	gnomAD
RAD54B	Q9Y620	p.Ser119Tyr	rs773897375	missense variant	-	NC_000008.11:g.94411264G>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser119Thr	rs900513831	missense variant	-	NC_000008.11:g.94411265A>T	TOPMed
RAD54B	Q9Y620	p.Ser121Arg	rs1330495853	missense variant	-	NC_000008.11:g.94411257G>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser121Asn	rs1338129135	missense variant	-	NC_000008.11:g.94411258C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser121Ile	rs1338129135	missense variant	-	NC_000008.11:g.94411258C>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Tyr125Ter	rs765873129	stop gained	-	NC_000008.11:g.94411245A>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser127Ile	rs944063317	missense variant	-	NC_000008.11:g.94411240C>A	TOPMed
RAD54B	Q9Y620	p.Ser127Gly	rs762382013	missense variant	-	NC_000008.11:g.94411241T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Val129Phe	rs1426529519	missense variant	-	NC_000008.11:g.94411235C>A	gnomAD
RAD54B	Q9Y620	p.Trp130Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94411230C>T	NCI-TCGA
RAD54B	Q9Y620	p.Trp130Leu	rs368351289	missense variant	-	NC_000008.11:g.94411231C>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Trp130Ter	rs368351289	stop gained	-	NC_000008.11:g.94411231C>T	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Cys131Tyr	rs376107387	missense variant	-	NC_000008.11:g.94411228C>T	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys132Arg	rs1323717104	missense variant	-	NC_000008.11:g.94411225T>C	TOPMed
RAD54B	Q9Y620	p.Pro133His	rs75952907	missense variant	-	NC_000008.11:g.94411222G>T	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro133Leu	rs75952907	missense variant	-	NC_000008.11:g.94411222G>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro133Arg	rs75952907	missense variant	-	NC_000008.11:g.94411222G>C	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His138Leu	rs146134783	missense variant	-	NC_000008.11:g.94411207T>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His138Arg	rs146134783	missense variant	-	NC_000008.11:g.94411207T>C	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys139Thr	rs555902676	missense variant	-	NC_000008.11:g.94411204T>G	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Lys139Arg	rs555902676	missense variant	-	NC_000008.11:g.94411204T>C	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Trp141Arg	rs1203423242	missense variant	-	NC_000008.11:g.94411199A>G	gnomAD
RAD54B	Q9Y620	p.Trp141Cys	rs548333835	missense variant	-	NC_000008.11:g.94411197C>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Trp141Ter	rs548333835	stop gained	-	NC_000008.11:g.94411197C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val146Leu	rs143019153	missense variant	-	NC_000008.11:g.94411184C>G	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val146Ile	rs143019153	missense variant	-	NC_000008.11:g.94411184C>T	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val146Phe	rs143019153	missense variant	-	NC_000008.11:g.94411184C>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile148Thr	rs925899837	missense variant	-	NC_000008.11:g.94411177A>G	TOPMed,gnomAD
RAD54B	Q9Y620	p.Val149Ile	rs764505468	missense variant	-	NC_000008.11:g.94411175C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys152Glu	rs756579470	missense variant	-	NC_000008.11:g.94411166T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser153Pro	rs751165466	missense variant	-	NC_000008.11:g.94411163A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Phe154Leu	rs765934381	missense variant	-	NC_000008.11:g.94411158A>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile155Met	rs762732325	missense variant	-	NC_000008.11:g.94411155T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Lys157Asn	COSM1102572	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94411149C>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Asn158Lys	rs1451656403	missense variant	-	NC_000008.11:g.94411146A>C	gnomAD
RAD54B	Q9Y620	p.Glu160Gly	rs772564647	missense variant	-	NC_000008.11:g.94411141T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Lys162Asn	rs764774153	missense variant	-	NC_000008.11:g.94411134T>G	ExAC
RAD54B	Q9Y620	p.Arg166Gly	rs1403486404	missense variant	-	NC_000008.11:g.94411124T>C	gnomAD
RAD54B	Q9Y620	p.Gly167Ser	rs1388705010	missense variant	-	NC_000008.11:g.94411121C>T	gnomAD
RAD54B	Q9Y620	p.Ile168Thr	rs1464060633	missense variant	-	NC_000008.11:g.94407717A>G	gnomAD
RAD54B	Q9Y620	p.Gly169Asp	rs1205208856	missense variant	-	NC_000008.11:g.94407714C>T	gnomAD
RAD54B	Q9Y620	p.Gly169Ser	rs760734988	missense variant	-	NC_000008.11:g.94407715C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Tyr170His	rs1312379304	missense variant	-	NC_000008.11:g.94407712A>G	gnomAD
RAD54B	Q9Y620	p.Glu174Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94407700C>A	NCI-TCGA
RAD54B	Q9Y620	p.Leu175Pro	rs1217249416	missense variant	-	NC_000008.11:g.94407696A>G	gnomAD
RAD54B	Q9Y620	p.Glu176Gly	rs1341463936	missense variant	-	NC_000008.11:g.94407693T>C	gnomAD
RAD54B	Q9Y620	p.Glu180Val	rs775120386	missense variant	-	NC_000008.11:g.94407681T>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Gly181Val	rs771952876	missense variant	-	NC_000008.11:g.94407678C>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr183Ile	rs774745162	missense variant	-	NC_000008.11:g.94407672G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu184Val	rs771068379	missense variant	-	NC_000008.11:g.94407670G>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Cys187Tyr	rs1048467257	missense variant	-	NC_000008.11:g.94407660C>T	TOPMed
RAD54B	Q9Y620	p.Gly188Arg	rs1334001142	missense variant	-	NC_000008.11:g.94407658C>G	gnomAD
RAD54B	Q9Y620	p.Glu190Ter	rs749364309	stop gained	-	NC_000008.11:g.94407652C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu190Gln	rs749364309	missense variant	-	NC_000008.11:g.94407652C>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu192Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94407646C>A	NCI-TCGA
RAD54B	Q9Y620	p.Met194Ile	rs1449351525	missense variant	-	NC_000008.11:g.94407638C>A	gnomAD
RAD54B	Q9Y620	p.Met194Leu	rs1169807672	missense variant	-	NC_000008.11:g.94407640T>A	gnomAD
RAD54B	Q9Y620	p.Gly195Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94407637C>T	NCI-TCGA
RAD54B	Q9Y620	p.Val196Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94407633A>G	NCI-TCGA
RAD54B	Q9Y620	p.Val196Ile	rs116574477	missense variant	-	NC_000008.11:g.94407634C>T	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro199Ser	rs897160795	missense variant	-	NC_000008.11:g.94407625G>A	TOPMed
RAD54B	Q9Y620	p.Asp200Val	rs748736358	missense variant	-	NC_000008.11:g.94407621T>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asp201Tyr	rs1483404569	missense variant	-	NC_000008.11:g.94407619C>A	gnomAD
RAD54B	Q9Y620	p.Ser203Ile	rs376304599	missense variant	-	NC_000008.11:g.94407612C>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser204Asn	rs750006237	missense variant	-	NC_000008.11:g.94407609C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly205Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94407607C>T	NCI-TCGA
RAD54B	Q9Y620	p.Cys207Gly	rs199681795	missense variant	-	NC_000008.11:g.94407601A>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Cys207Trp	rs756964944	missense variant	-	NC_000008.11:g.94407599A>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Gln209Leu	rs763702806	missense variant	-	NC_000008.11:g.94407594T>A	ExAC
RAD54B	Q9Y620	p.Gln209Ter	rs753345606	stop gained	-	NC_000008.11:g.94407595G>A	ExAC
RAD54B	Q9Y620	p.Gln209His	rs752704461	missense variant	-	NC_000008.11:g.94407593C>A	ExAC
RAD54B	Q9Y620	p.Leu210Ile	rs759381070	missense variant	-	NC_000008.11:g.94407592G>T	ExAC
RAD54B	Q9Y620	p.Leu210Val	rs759381070	missense variant	-	NC_000008.11:g.94407592G>C	ExAC
RAD54B	Q9Y620	p.Leu210Pro	rs139411957	missense variant	-	NC_000008.11:g.94407591A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly211Ter	rs150711132	stop gained	-	NC_000008.11:g.94407589C>A	ESP,ExAC,gnomAD
RAD54B	Q9Y620	p.Gly211Arg	rs150711132	missense variant	-	NC_000008.11:g.94407589C>T	ESP,ExAC,gnomAD
RAD54B	Q9Y620	p.Gly211Val	rs1283834883	missense variant	-	NC_000008.11:g.94407588C>A	gnomAD
RAD54B	Q9Y620	p.Gly213Arg	rs931804254	missense variant	-	NC_000008.11:g.94407583C>T	TOPMed
RAD54B	Q9Y620	p.Thr215Ile	rs773402115	missense variant	-	NC_000008.11:g.94407576G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile217Thr	rs769937741	missense variant	-	NC_000008.11:g.94407570A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser218Trp	rs748561168	missense variant	-	NC_000008.11:g.94407567G>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser218Leu	rs748561168	missense variant	-	NC_000008.11:g.94407567G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His219Tyr	rs1369075231	missense variant	-	NC_000008.11:g.94407565G>A	TOPMed
RAD54B	Q9Y620	p.Ser220Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94407561G>T	NCI-TCGA
RAD54B	Q9Y620	p.Ser220Phe	rs747364535	missense variant	-	NC_000008.11:g.94407561G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser221Cys	rs1031066806	missense variant	-	NC_000008.11:g.94407558G>C	TOPMed
RAD54B	Q9Y620	p.Ala224Thr	rs1412367279	missense variant	-	NC_000008.11:g.94407550C>T	gnomAD
RAD54B	Q9Y620	p.Cys227Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94407541A>G	NCI-TCGA
RAD54B	Q9Y620	p.Cys227Tyr	COSM3779421	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94407540C>T	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Phe228Ser	rs1443440448	missense variant	-	NC_000008.11:g.94407537A>G	TOPMed
RAD54B	Q9Y620	p.Ser229Cys	COSM3835159	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94407534G>C	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Asn230Lys	rs756874755	missense variant	-	NC_000008.11:g.94407530G>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro231Leu	rs748992142	missense variant	-	NC_000008.11:g.94407528G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Phe232Leu	rs971378088	missense variant	-	NC_000008.11:g.94407526A>G	TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys233Asn	COSM3902140	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94407521T>G	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Ser234Asn	rs1482071910	missense variant	-	NC_000008.11:g.94407519C>T	gnomAD
RAD54B	Q9Y620	p.Pro238Ser	rs148201396	missense variant	-	NC_000008.11:g.94407508G>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser239Ile	rs1319131077	missense variant	-	NC_000008.11:g.94407504C>A	TOPMed
RAD54B	Q9Y620	p.Lys241Thr	rs111586647	missense variant	-	NC_000008.11:g.94407498T>G	gnomAD
RAD54B	Q9Y620	p.Asn243IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.94407492T>-	NCI-TCGA
RAD54B	Q9Y620	p.Arg244Gly	rs1012331110	missense variant	-	NC_000008.11:g.94407490T>C	TOPMed
RAD54B	Q9Y620	p.Asn250Ser	rs752510024	missense variant	-	NC_000008.11:g.94407471T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys252Glu	rs1458819891	missense variant	-	NC_000008.11:g.94407466T>C	gnomAD
RAD54B	Q9Y620	p.Arg254Leu	rs766325819	missense variant	-	NC_000008.11:g.94407459C>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg254His	rs766325819	missense variant	-	NC_000008.11:g.94407459C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg254Cys	rs376870498	missense variant	-	NC_000008.11:g.94407460G>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr259Met	rs376919776	missense variant	-	NC_000008.11:g.94407444G>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr259Arg	rs376919776	missense variant	-	NC_000008.11:g.94407444G>C	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn261Thr	rs899296422	missense variant	-	NC_000008.11:g.94404239T>G	TOPMed,gnomAD
RAD54B	Q9Y620	p.Val264Phe	rs1248667343	missense variant	-	NC_000008.11:g.94404231C>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Val264Ile	rs1248667343	missense variant	-	NC_000008.11:g.94404231C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Met265Thr	rs750549188	missense variant	-	NC_000008.11:g.94404227A>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro266Leu	rs765482000	missense variant	-	NC_000008.11:g.94404224G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Arg267Ter	rs534637551	stop gained	-	NC_000008.11:g.94404222G>A	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Arg267Gln	rs764212601	missense variant	-	NC_000008.11:g.94404221C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys270Glu	rs761125809	missense variant	-	NC_000008.11:g.94404213T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.His272Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94404206T>C	NCI-TCGA
RAD54B	Q9Y620	p.Trp274Ter	rs1464812250	stop gained	-	NC_000008.11:g.94404199C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Trp274Ter	rs776009216	stop gained	-	NC_000008.11:g.94404200C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val275Ile	rs772356631	missense variant	-	NC_000008.11:g.94404198C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn277Ser	rs774638198	missense variant	-	NC_000008.11:g.94404191T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys278Asn	rs769456070	missense variant	-	NC_000008.11:g.94404187C>A	ExAC
RAD54B	Q9Y620	p.Asn279Lys	rs1465362258	missense variant	-	NC_000008.11:g.94404184G>C	gnomAD
RAD54B	Q9Y620	p.Val284Met	rs138076805	missense variant	-	NC_000008.11:g.94404171C>T	ESP,ExAC,gnomAD
RAD54B	Q9Y620	p.Asp285Glu	rs780703541	missense variant	-	NC_000008.11:g.94404166A>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Val286Leu	rs1383850542	missense variant	-	NC_000008.11:g.94404165C>G	TOPMed
RAD54B	Q9Y620	p.Pro290Thr	rs988904367	missense variant	-	NC_000008.11:g.94404153G>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro290Leu	rs202107104	missense variant	-	NC_000008.11:g.94404152G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu292Phe	rs955748092	missense variant	-	NC_000008.11:g.94404147G>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.His295Tyr	COSM4511875	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94404138G>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Arg297Ter	rs373973462	stop gained	-	NC_000008.11:g.94404132G>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg297Gln	rs1032740646	missense variant	-	NC_000008.11:g.94404131C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys301Glu	rs201184182	missense variant	-	NC_000008.11:g.94404120T>C	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Glu302Gln	rs1207972154	missense variant	-	NC_000008.11:g.94404117C>G	gnomAD
RAD54B	Q9Y620	p.Gly303Glu	rs1343469716	missense variant	-	NC_000008.11:g.94404113C>T	gnomAD
RAD54B	Q9Y620	p.Gly303Arg	rs199862292	missense variant	-	NC_000008.11:g.94404114C>T	gnomAD
RAD54B	Q9Y620	p.Phe306Leu	rs1395149477	missense variant	-	NC_000008.11:g.94404103G>C	TOPMed
RAD54B	Q9Y620	p.Glu309Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94404096C>A	NCI-TCGA
RAD54B	Q9Y620	p.Cys310Tyr	rs757481083	missense variant	-	NC_000008.11:g.94404092C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Met312Thr	rs764122781	missense variant	-	NC_000008.11:g.94404086A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Met312Val	rs754033675	missense variant	-	NC_000008.11:g.94404087T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly313Val	rs760749654	missense variant	-	NC_000008.11:g.94404083C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Met314Leu	rs76070333	missense variant	-	NC_000008.11:g.94404081T>A	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg315Thr	rs1369873171	missense variant	-	NC_000008.11:g.94404077C>G	gnomAD
RAD54B	Q9Y620	p.Arg319Thr	rs148896143	missense variant	-	NC_000008.11:g.94400452C>G	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg319Ser	rs959256302	missense variant	-	NC_000008.11:g.94400451T>A	TOPMed
RAD54B	Q9Y620	p.Arg319Ile	rs148896143	missense variant	-	NC_000008.11:g.94400452C>A	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg319Lys	rs148896143	missense variant	-	NC_000008.11:g.94400452C>T	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Cys320Tyr	rs757037716	missense variant	-	NC_000008.11:g.94400449C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Cys320Arg	rs1473130820	missense variant	-	NC_000008.11:g.94400450A>G	gnomAD
RAD54B	Q9Y620	p.Ala322Gly	rs1180320431	missense variant	-	NC_000008.11:g.94400443G>C	gnomAD
RAD54B	Q9Y620	p.Ile323Thr	rs376810684	missense variant	-	NC_000008.11:g.94400440A>G	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ala325Val	rs1267495961	missense variant	-	NC_000008.11:g.94400434G>A	gnomAD
RAD54B	Q9Y620	p.Asp326Val	rs1208723907	missense variant	-	NC_000008.11:g.94400431T>A	gnomAD
RAD54B	Q9Y620	p.Glu327Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94400429C>T	NCI-TCGA
RAD54B	Q9Y620	p.Glu327Gln	rs777985585	missense variant	-	NC_000008.11:g.94400429C>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Met328Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94400424C>T	NCI-TCGA
RAD54B	Q9Y620	p.Gly331Ala	rs1269646949	missense variant	-	NC_000008.11:g.94400416C>G	gnomAD
RAD54B	Q9Y620	p.Lys332Arg	rs1161091998	missense variant	-	NC_000008.11:g.94400413T>C	TOPMed
RAD54B	Q9Y620	p.Thr333Ala	rs145642488	missense variant	-	NC_000008.11:g.94400411T>C	ESP,ExAC,gnomAD
RAD54B	Q9Y620	p.Thr333Ile	rs767631515	missense variant	-	NC_000008.11:g.94400410G>A	ExAC
RAD54B	Q9Y620	p.Leu334Phe	rs1170682179	missense variant	-	NC_000008.11:g.94400406C>G	TOPMed
RAD54B	Q9Y620	p.Leu334Ter	rs752037673	stop gained	-	NC_000008.11:g.94400407A>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu334Ser	rs752037673	missense variant	-	NC_000008.11:g.94400407A>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu334Trp	rs752037673	missense variant	-	NC_000008.11:g.94400407A>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Cys336Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94400402A>C	NCI-TCGA
RAD54B	Q9Y620	p.Cys336Tyr	rs766698371	missense variant	-	NC_000008.11:g.94400401C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser338Leu	rs367836964	missense variant	-	NC_000008.11:g.94400395G>A	ESP,ExAC,TOPMed
RAD54B	Q9Y620	p.Leu343Val	rs1161676427	missense variant	-	NC_000008.11:g.94400381G>C	gnomAD
RAD54B	Q9Y620	p.Gln344Arg	rs775121036	missense variant	-	NC_000008.11:g.94400377T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Gly347Arg	rs771506985	missense variant	-	NC_000008.11:g.94400369C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Pro348Ser	rs1479329970	missense variant	-	NC_000008.11:g.94400366G>A	gnomAD
RAD54B	Q9Y620	p.Tyr349Ter	rs183468109	stop gained	-	NC_000008.11:g.94400361A>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Gly350Glu	rs115402369	missense variant	-	NC_000008.11:g.94400359C>T	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Gly351Ser	rs1466771386	missense variant	-	NC_000008.11:g.94400357C>T	gnomAD
RAD54B	Q9Y620	p.Gly351Asp	rs777613400	missense variant	-	NC_000008.11:g.94400356C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Pro353Ser	rs1464146004	missense variant	-	NC_000008.11:g.94400351G>A	gnomAD
RAD54B	Q9Y620	p.Leu359Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94400332A>G	NCI-TCGA
RAD54B	Q9Y620	p.Ile360Val	rs1408230776	missense variant	-	NC_000008.11:g.94400330T>C	TOPMed
RAD54B	Q9Y620	p.Pro363Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94400321G>A	NCI-TCGA
RAD54B	Q9Y620	p.Pro363Arg	rs781207122	missense variant	-	NC_000008.11:g.94400320G>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn368Ser	rs373977494	missense variant	-	NC_000008.11:g.94400305T>C	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn368His	rs1336671905	missense variant	-	NC_000008.11:g.94400306T>G	TOPMed
RAD54B	Q9Y620	p.Asn369Thr	rs1254727038	missense variant	-	NC_000008.11:g.94400302T>G	TOPMed
RAD54B	Q9Y620	p.Trp370Ter	rs1350637023	stop gained	-	NC_000008.11:g.94400299C>T	TOPMed
RAD54B	Q9Y620	p.Trp370Ter	rs781224724	stop gained	-	NC_000008.11:g.94400298C>T	-
RAD54B	Q9Y620	p.Lys372Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94400292T>G	NCI-TCGA
RAD54B	Q9Y620	p.Lys372Glu	rs1436149413	missense variant	-	NC_000008.11:g.94400294T>C	gnomAD
RAD54B	Q9Y620	p.Lys372Asn	COSM6114051	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94400292T>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Glu373Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94400291C>A	NCI-TCGA
RAD54B	Q9Y620	p.Gly379Glu	rs1453083831	missense variant	-	NC_000008.11:g.94400272C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser380Ile	rs1178505247	missense variant	-	NC_000008.11:g.94400269C>A	TOPMed
RAD54B	Q9Y620	p.Ile383Phe	rs1391535077	missense variant	-	NC_000008.11:g.94400261T>A	gnomAD
RAD54B	Q9Y620	p.Lys384Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94400256C>A	NCI-TCGA
RAD54B	Q9Y620	p.Lys384Glu	rs1188627811	missense variant	-	NC_000008.11:g.94400258T>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile385Met	rs750783757	missense variant	-	NC_000008.11:g.94400253T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile385Val	rs1448571300	missense variant	-	NC_000008.11:g.94400255T>C	gnomAD
RAD54B	Q9Y620	p.Thr387Ile	rs200604082	missense variant	-	NC_000008.11:g.94400248G>A	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val388Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94400246C>T	NCI-TCGA
RAD54B	Q9Y620	p.Gln390Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94400240G>A	NCI-TCGA
RAD54B	Q9Y620	p.Asp391Asn	rs1008814047	missense variant	-	NC_000008.11:g.94399621C>T	TOPMed
RAD54B	Q9Y620	p.Asp391Gly	rs971957727	missense variant	-	NC_000008.11:g.94399620T>C	gnomAD
RAD54B	Q9Y620	p.Lys393Arg	rs758807263	missense variant	-	NC_000008.11:g.94399614T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu396Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94399606C>A	NCI-TCGA
RAD54B	Q9Y620	p.Ile398Val	rs1270938719	missense variant	-	NC_000008.11:g.94399600T>C	gnomAD
RAD54B	Q9Y620	p.Ser400Thr	rs1230292960	missense variant	-	NC_000008.11:g.94399594A>T	gnomAD
RAD54B	Q9Y620	p.Ile401Met	rs1439749949	missense variant	-	NC_000008.11:g.94399589T>C	TOPMed
RAD54B	Q9Y620	p.Ile401Val	rs374355978	missense variant	-	NC_000008.11:g.94399591T>C	ESP,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser404Cys	rs1293135582	missense variant	-	NC_000008.11:g.94399581G>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Val405Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94399578A>G	NCI-TCGA
RAD54B	Q9Y620	p.Val405Ile	rs750992987	missense variant	-	NC_000008.11:g.94399579C>T	ExAC,TOPMed
RAD54B	Q9Y620	p.Ile407Thr	rs1413329526	missense variant	-	NC_000008.11:g.94399572A>G	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser409Gly	rs1448309020	missense variant	-	NC_000008.11:g.94399567T>C	TOPMed
RAD54B	Q9Y620	p.Leu414Phe	rs1201788285	missense variant	-	NC_000008.11:g.94399552G>A	TOPMed
RAD54B	Q9Y620	p.Leu414Val	rs1201788285	missense variant	-	NC_000008.11:g.94399552G>C	TOPMed
RAD54B	Q9Y620	p.Arg415His	rs562637094	missense variant	-	NC_000008.11:g.94399548C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg415Cys	rs539803935	missense variant	-	NC_000008.11:g.94399549G>A	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu417Pro	rs1166258477	missense variant	-	NC_000008.11:g.94399542A>G	gnomAD
RAD54B	Q9Y620	p.Asp418Tyr	RCV000005993	missense variant	Carcinoma of colon (CRC)	NC_000008.11:g.94399540C>A	ClinVar
RAD54B	Q9Y620	p.Asp418Tyr	rs119490107	missense variant	-	NC_000008.11:g.94399540C>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile420Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94399532A>C	NCI-TCGA
RAD54B	Q9Y620	p.Lys421Asn	rs773704992	missense variant	-	NC_000008.11:g.94399529C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile423Met	rs1443039735	missense variant	-	NC_000008.11:g.94399523T>C	TOPMed
RAD54B	Q9Y620	p.Ile423Val	rs1162261667	missense variant	-	NC_000008.11:g.94399525T>C	gnomAD
RAD54B	Q9Y620	p.Leu428Val	rs765965378	missense variant	-	NC_000008.11:g.94399510G>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile429Thr	rs1181421042	missense variant	-	NC_000008.11:g.94399506A>G	gnomAD
RAD54B	Q9Y620	p.Asp431Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94399501C>T	NCI-TCGA
RAD54B	Q9Y620	p.Asp431Glu	rs35235038	missense variant	-	NC_000008.11:g.94399499G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu432Lys	rs776551512	missense variant	-	NC_000008.11:g.94399498C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu432Ala	rs768725152	missense variant	-	NC_000008.11:g.94399497T>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu432Gln	rs776551512	missense variant	-	NC_000008.11:g.94399498C>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu432Ter	COSM198806	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94399498C>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Gly433Val	rs1272798352	missense variant	-	NC_000008.11:g.94399494C>A	gnomAD
RAD54B	Q9Y620	p.His434Asn	rs779946446	missense variant	-	NC_000008.11:g.94399492G>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Arg435Cys	rs772311368	missense variant	-	NC_000008.11:g.94399489G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg435His	rs746313459	missense variant	-	NC_000008.11:g.94399488C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg435Ser	rs772311368	missense variant	-	NC_000008.11:g.94399489G>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser439Arg	rs779581082	missense variant	-	NC_000008.11:g.94399475A>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser439Asn	rs1371789954	missense variant	-	NC_000008.11:g.94399476C>T	gnomAD
RAD54B	Q9Y620	p.Thr443Lys	rs757897401	missense variant	-	NC_000008.11:g.94399464G>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Thr444Ala	rs1393038771	missense variant	-	NC_000008.11:g.94399462T>C	gnomAD
RAD54B	Q9Y620	p.Thr445Ile	rs754150106	missense variant	-	NC_000008.11:g.94399458G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ala446Asp	rs1412507501	missense variant	-	NC_000008.11:g.94399455G>T	gnomAD
RAD54B	Q9Y620	p.Ala446Thr	rs1254223926	missense variant	-	NC_000008.11:g.94399456C>T	TOPMed
RAD54B	Q9Y620	p.Ser449Gly	rs754567049	missense variant	-	NC_000008.11:g.94399447T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Cys452Tyr	rs1446907916	missense variant	-	NC_000008.11:g.94399437C>T	TOPMed
RAD54B	Q9Y620	p.Glu453Lys	rs902175391	missense variant	-	NC_000008.11:g.94399435C>T	TOPMed
RAD54B	Q9Y620	p.Leu458Pro	rs1427188544	missense variant	-	NC_000008.11:g.94399419A>G	TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr459Asn	rs576696900	missense variant	-	NC_000008.11:g.94399416G>T	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr459Ile	rs576696900	missense variant	-	NC_000008.11:g.94399416G>A	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asp466Tyr	rs749850768	missense variant	-	NC_000008.11:g.94393865C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu467Met	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94393862G>T	NCI-TCGA
RAD54B	Q9Y620	p.Gln468Glu	rs376928944	missense variant	-	NC_000008.11:g.94393859G>C	ESP,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu469Ter	rs1362063047	stop gained	-	NC_000008.11:g.94393856C>A	TOPMed
RAD54B	Q9Y620	p.Glu469Gln	COSM6114052	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94393856C>G	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Leu473ValHisThr	NCI-TCGA novel	insertion	-	NC_000008.11:g.94393841_94393842insAGTGTGAAC	NCI-TCGA
RAD54B	Q9Y620	p.Leu473ArgValHisThr	NCI-TCGA novel	insertion	-	NC_000008.11:g.94393840_94393841insTAGTGTGAACTC	NCI-TCGA
RAD54B	Q9Y620	p.Ile474Thr	rs756504297	missense variant	-	NC_000008.11:g.94393840A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Asp475His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94393838C>G	NCI-TCGA
RAD54B	Q9Y620	p.Phe476Ser	rs751114628	missense variant	-	NC_000008.11:g.94393834A>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val477Leu	rs779667058	missense variant	-	NC_000008.11:g.94393832C>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val477Ile	rs779667058	missense variant	-	NC_000008.11:g.94393832C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn478Lys	rs1365218439	missense variant	-	NC_000008.11:g.94393827A>T	gnomAD
RAD54B	Q9Y620	p.Pro479Gln	rs1380126704	missense variant	-	NC_000008.11:g.94393825G>T	gnomAD
RAD54B	Q9Y620	p.Pro479Ser	rs1294436700	missense variant	-	NC_000008.11:g.94393826G>A	gnomAD
RAD54B	Q9Y620	p.Ile481Met	rs1206427350	missense variant	-	NC_000008.11:g.94393818T>C	TOPMed
RAD54B	Q9Y620	p.Leu482Ser	rs1381119672	missense variant	-	NC_000008.11:g.94393816A>G	gnomAD
RAD54B	Q9Y620	p.Gly483Ser	rs758113509	missense variant	-	NC_000008.11:g.94393814C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Gly483Val	rs1447371288	missense variant	-	NC_000008.11:g.94393813C>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser484Pro	rs749899840	missense variant	-	NC_000008.11:g.94393811A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser484Phe	rs764772460	missense variant	-	NC_000008.11:g.94393810G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser484Tyr	rs764772460	missense variant	-	NC_000008.11:g.94393810G>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu485Ser	rs1170337255	missense variant	-	NC_000008.11:g.94393807A>G	gnomAD
RAD54B	Q9Y620	p.Leu485Ter	rs1170337255	stop gained	-	NC_000008.11:g.94393807A>T	gnomAD
RAD54B	Q9Y620	p.Ser486Leu	rs1373668057	missense variant	-	NC_000008.11:g.94393804G>A	gnomAD
RAD54B	Q9Y620	p.Ser487Pro	rs1249669727	missense variant	-	NC_000008.11:g.94393802A>G	gnomAD
RAD54B	Q9Y620	p.Tyr488His	rs972336249	missense variant	-	NC_000008.11:g.94393799A>G	TOPMed
RAD54B	Q9Y620	p.Tyr488Cys	rs761603314	missense variant	-	NC_000008.11:g.94393798T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Arg489Gly	rs199932533	missense variant	-	NC_000008.11:g.94393796T>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile491Val	rs966732970	missense variant	-	NC_000008.11:g.94393790T>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Tyr492Cys	rs1025411461	missense variant	-	NC_000008.11:g.94393786T>C	gnomAD
RAD54B	Q9Y620	p.Tyr492Phe	rs1025411461	missense variant	-	NC_000008.11:g.94393786T>A	gnomAD
RAD54B	Q9Y620	p.Glu493Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94393783T>C	NCI-TCGA
RAD54B	Q9Y620	p.Pro495Ser	rs760535639	missense variant	-	NC_000008.11:g.94393778G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile497Met	rs1250232678	missense variant	-	NC_000008.11:g.94393770A>C	gnomAD
RAD54B	Q9Y620	p.Leu498Ser	rs1224845227	missense variant	-	NC_000008.11:g.94393768A>G	gnomAD
RAD54B	Q9Y620	p.Ser499Leu	rs767848832	missense variant	-	NC_000008.11:g.94393765G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro502Ala	rs774551093	missense variant	-	NC_000008.11:g.94393757G>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser505Thr	rs771158536	missense variant	-	NC_000008.11:g.94393748A>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu507Gly	rs759784577	missense variant	-	NC_000008.11:g.94391898T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys509Asn	rs1289961970	missense variant	-	NC_000008.11:g.94391891C>G	gnomAD
RAD54B	Q9Y620	p.Glu510Lys	rs774747199	missense variant	-	NC_000008.11:g.94391890C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu511Phe	rs1340475525	missense variant	-	NC_000008.11:g.94391885T>G	gnomAD
RAD54B	Q9Y620	p.Gly512Arg	rs1335092883	missense variant	-	NC_000008.11:g.94391884C>T	gnomAD
RAD54B	Q9Y620	p.Ala516Thr	rs115960331	missense variant	-	NC_000008.11:g.94391872C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu518Ter	rs773230568	stop gained	-	NC_000008.11:g.94391866C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Gly524ThrPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.94391848_94391849CA>-	NCI-TCGA
RAD54B	Q9Y620	p.Gly524Arg	rs1197534943	missense variant	-	NC_000008.11:g.94391848C>T	TOPMed
RAD54B	Q9Y620	p.Leu525Arg	rs769036795	missense variant	-	NC_000008.11:g.94391844A>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile527Asn	rs1363734194	missense variant	-	NC_000008.11:g.94391838A>T	gnomAD
RAD54B	Q9Y620	p.Arg530Ile	COSM1102567	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391829C>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Thr531Ile	rs1180211377	missense variant	-	NC_000008.11:g.94391826G>A	gnomAD
RAD54B	Q9Y620	p.Thr531Ala	rs889436607	missense variant	-	NC_000008.11:g.94391827T>C	TOPMed
RAD54B	Q9Y620	p.Glu533Gly	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94391820T>C	NCI-TCGA
RAD54B	Q9Y620	p.Glu533Ter	rs1253035201	stop gained	-	NC_000008.11:g.94391821C>A	gnomAD
RAD54B	Q9Y620	p.Ile534Val	rs114863350	missense variant	-	NC_000008.11:g.94391818T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile535Met	rs1466849498	missense variant	-	NC_000008.11:g.94391813T>C	gnomAD
RAD54B	Q9Y620	p.Asn536Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94391811T>G	NCI-TCGA
RAD54B	Q9Y620	p.Lys537Gln	rs1269860613	missense variant	-	NC_000008.11:g.94391809T>G	gnomAD
RAD54B	Q9Y620	p.Tyr538Cys	rs778552591	missense variant	-	NC_000008.11:g.94391805T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu539Pro	rs777193156	missense variant	-	NC_000008.11:g.94391802A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu539His	rs777193156	missense variant	-	NC_000008.11:g.94391802A>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu539Ile	COSM1458701	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391803G>T	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Glu544Val	rs756056414	missense variant	-	NC_000008.11:g.94391787T>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Val546Ile	rs552710324	missense variant	-	NC_000008.11:g.94391782C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Cys549Arg	rs370200886	missense variant	-	NC_000008.11:g.94391773A>G	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg550Ter	rs377463964	stop gained	-	NC_000008.11:g.94391770G>A	ESP,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg550Gln	rs1028681710	missense variant	-	NC_000008.11:g.94391769C>T	TOPMed
RAD54B	Q9Y620	p.Ala553Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94391760G>T	NCI-TCGA
RAD54B	Q9Y620	p.Ala553Val	rs1341901157	missense variant	-	NC_000008.11:g.94391760G>A	TOPMed
RAD54B	Q9Y620	p.Gln555His	rs1192463388	missense variant	-	NC_000008.11:g.94391753C>A	gnomAD
RAD54B	Q9Y620	p.Ile556Val	rs1451961350	missense variant	-	NC_000008.11:g.94391752T>C	gnomAD
RAD54B	Q9Y620	p.Glu557Gly	rs1321861559	missense variant	-	NC_000008.11:g.94391748T>C	gnomAD
RAD54B	Q9Y620	p.Arg560Gln	rs1388540840	missense variant	-	NC_000008.11:g.94391739C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg560Gly	rs1042539559	missense variant	-	NC_000008.11:g.94391740G>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg560Ter	rs1042539559	stop gained	-	NC_000008.11:g.94391740G>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu562Met	rs765254556	missense variant	-	NC_000008.11:g.94391734G>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu563Ter	rs750682378	stop gained	-	NC_000008.11:g.94391730A>C	gnomAD
RAD54B	Q9Y620	p.Asn564Lys	rs1281206988	missense variant	-	NC_000008.11:g.94391726A>T	gnomAD
RAD54B	Q9Y620	p.Ser565Tyr	COSM3432627	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391724G>T	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Arg569Gly	rs1452779266	missense variant	-	NC_000008.11:g.94391713T>C	TOPMed
RAD54B	Q9Y620	p.Cys571Tyr	COSM1489481	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391706C>T	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Gly574Arg	rs762266846	missense variant	-	NC_000008.11:g.94391698C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Gly574Glu	rs541067226	missense variant	-	NC_000008.11:g.94391697C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Gly574Trp	COSM6114053	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391698C>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Leu575Phe	rs1326250166	missense variant	-	NC_000008.11:g.94391693C>A	gnomAD
RAD54B	Q9Y620	p.Ser579GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.94391683_94391684insG	NCI-TCGA
RAD54B	Q9Y620	p.Ser579Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94391681A>C	NCI-TCGA
RAD54B	Q9Y620	p.His581Arg	rs1416718367	missense variant	-	NC_000008.11:g.94391676T>C	gnomAD
RAD54B	Q9Y620	p.Leu582Pro	rs539612727	missense variant	-	NC_000008.11:g.94391673A>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile583Leu	rs1432355712	missense variant	-	NC_000008.11:g.94391671T>A	gnomAD
RAD54B	Q9Y620	p.Cys584Ser	rs534023829	missense variant	-	NC_000008.11:g.94391668A>T	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Cys584Tyr	rs200865822	missense variant	-	NC_000008.11:g.94391667C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile585Thr	rs748945909	missense variant	-	NC_000008.11:g.94391664A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile585Leu	COSM3413167	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391665T>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Lys590AsnPheSerTerUnkUnk	COSM1643660	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94391648T>-	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Cys592GlnPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.94391643_94391644CA>-	NCI-TCGA
RAD54B	Q9Y620	p.Cys592Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94391642G>T	NCI-TCGA
RAD54B	Q9Y620	p.Cys592Tyr	rs777292305	missense variant	-	NC_000008.11:g.94391643C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn593Ser	RCV000005992	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000008.11:g.94391640T>C	ClinVar
RAD54B	Q9Y620	p.Asn593Ser	rs114216685	missense variant	-	NC_000008.11:g.94391640T>C	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn593Ser	rs114216685	missense variant	-	NC_000008.11:g.94391640T>C	UniProt,dbSNP
RAD54B	Q9Y620	p.Asn593Ser	VAR_019564	missense variant	-	NC_000008.11:g.94391640T>C	UniProt
RAD54B	Q9Y620	p.His594Tyr	rs748034453	missense variant	-	NC_000008.11:g.94391638G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Pro595Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94391634G>A	NCI-TCGA
RAD54B	Q9Y620	p.Cys596Ser	rs781258984	missense variant	-	NC_000008.11:g.94391631C>G	ExAC
RAD54B	Q9Y620	p.Leu598Ser	rs755030426	missense variant	-	NC_000008.11:g.94391625A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn600Thr	rs113116729	missense variant	-	NC_000008.11:g.94391619T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn600Ser	rs113116729	missense variant	-	NC_000008.11:g.94391619T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile602Val	rs758598200	missense variant	-	NC_000008.11:g.94391614T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Lys603Arg	rs1300230969	missense variant	-	NC_000008.11:g.94391610T>C	TOPMed
RAD54B	Q9Y620	p.Glu604Lys	rs546052522	missense variant	-	NC_000008.11:g.94387159C>T	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Glu604Gly	rs750599224	missense variant	-	NC_000008.11:g.94387158T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Cys607Tyr	rs1352207468	missense variant	-	NC_000008.11:g.94387149C>T	gnomAD
RAD54B	Q9Y620	p.Thr610Pro	rs114436457	missense variant	-	NC_000008.11:g.94387141T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys613Glu	rs757543354	missense variant	-	NC_000008.11:g.94387132T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Lys613Thr	rs753884611	missense variant	-	NC_000008.11:g.94387131T>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Lys613Asn	COSM1102566	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94387130T>G	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Asn614His	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94387129T>G	NCI-TCGA
RAD54B	Q9Y620	p.Asn614Ser	rs764208607	missense variant	-	NC_000008.11:g.94387128T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu616Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94387123C>A	NCI-TCGA
RAD54B	Q9Y620	p.Glu616Lys	rs1473413129	missense variant	-	NC_000008.11:g.94387123C>T	gnomAD
RAD54B	Q9Y620	p.Lys617Glu	rs948975996	missense variant	-	NC_000008.11:g.94387120T>C	TOPMed
RAD54B	Q9Y620	p.Lys617Arg	COSM4912085	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94387119T>C	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Lys617Asn	rs1176503783	missense variant	-	NC_000008.11:g.94387118C>G	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser618Asn	rs1002817348	missense variant	-	NC_000008.11:g.94387116C>T	TOPMed
RAD54B	Q9Y620	p.Leu619Gln	rs753180163	missense variant	-	NC_000008.11:g.94387113A>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Lys621Arg	rs563442225	missense variant	-	NC_000008.11:g.94387107T>C	1000Genomes
RAD54B	Q9Y620	p.Leu624Gln	COSM1102565	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94387098A>T	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Asp630Glu	rs1326861595	missense variant	-	NC_000008.11:g.94387079G>C	TOPMed
RAD54B	Q9Y620	p.Asp630Val	rs144828525	missense variant	-	NC_000008.11:g.94387080T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asp630Gly	rs144828525	missense variant	-	NC_000008.11:g.94387080T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Tyr631Ter	rs1399816378	stop gained	-	NC_000008.11:g.94387076G>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn632Asp	rs761603651	missense variant	-	NC_000008.11:g.94387075T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn632Ser	rs776228031	missense variant	-	NC_000008.11:g.94387074T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro633Ser	rs919974591	missense variant	-	NC_000008.11:g.94387072G>A	TOPMed
RAD54B	Q9Y620	p.Glu640Asp	rs768313103	missense variant	-	NC_000008.11:g.94387049C>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly642Glu	rs1323411136	missense variant	-	NC_000008.11:g.94387044C>T	gnomAD
RAD54B	Q9Y620	p.Leu644Val	rs149443901	missense variant	-	NC_000008.11:g.94387039G>C	1000Genomes,ESP,ExAC,TOPMed
RAD54B	Q9Y620	p.Gln645Ter	rs775301215	stop gained	-	NC_000008.11:g.94387036G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val646Met	rs772103978	missense variant	-	NC_000008.11:g.94387033C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu647Ser	rs1173900820	missense variant	-	NC_000008.11:g.94387029A>G	gnomAD
RAD54B	Q9Y620	p.Lys649Arg	rs1264084043	missense variant	-	NC_000008.11:g.94387023T>C	TOPMed
RAD54B	Q9Y620	p.Lys649Gln	rs1398862397	missense variant	-	NC_000008.11:g.94387024T>G	gnomAD
RAD54B	Q9Y620	p.Leu650Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94387021G>T	NCI-TCGA
RAD54B	Q9Y620	p.Ala652Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94387015C>T	NCI-TCGA
RAD54B	Q9Y620	p.Ala652Val	rs757450496	missense variant	-	NC_000008.11:g.94387014G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Val653Ala	rs777795099	missense variant	-	NC_000008.11:g.94387011A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Val653Phe	rs1454713083	missense variant	-	NC_000008.11:g.94387012C>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Val653Ile	rs1454713083	missense variant	-	NC_000008.11:g.94387012C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile654Thr	rs753192961	missense variant	-	NC_000008.11:g.94387008A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile654Val	rs571848774	missense variant	-	NC_000008.11:g.94387009T>C	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His655Gln	rs755545442	missense variant	-	NC_000008.11:g.94387004G>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu656Lys	rs375934106	missense variant	-	NC_000008.11:g.94387003C>T	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu657Pro	rs1281926772	missense variant	-	NC_000008.11:g.94386999A>G	gnomAD
RAD54B	Q9Y620	p.Arg658Pro	rs766867669	missense variant	-	NC_000008.11:g.94386996C>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg658Ter	rs1007531071	stop gained	-	NC_000008.11:g.94386997G>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg658Gln	rs766867669	missense variant	-	NC_000008.11:g.94386996C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro659Ala	rs776427060	missense variant	-	NC_000008.11:g.94386994G>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Thr660Ile	rs760088904	missense variant	-	NC_000008.11:g.94386990G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Val663Met	rs767078302	missense variant	-	NC_000008.11:g.94380405C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Val664Met	rs954472489	missense variant	-	NC_000008.11:g.94380402C>T	gnomAD
RAD54B	Q9Y620	p.Val664Leu	rs954472489	missense variant	-	NC_000008.11:g.94380402C>A	gnomAD
RAD54B	Q9Y620	p.Leu665Val	rs759352947	missense variant	-	NC_000008.11:g.94380399A>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Val666Ile	rs774280011	missense variant	-	NC_000008.11:g.94380396C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Tyr669Cys	rs1197045445	missense variant	-	NC_000008.11:g.94380386T>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr670Ile	rs1031441076	missense variant	-	NC_000008.11:g.94380383G>A	TOPMed
RAD54B	Q9Y620	p.Gln671PhePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.94380369_94380381TGTTCAAGGTTTG>-	NCI-TCGA
RAD54B	Q9Y620	p.Gln671Ter	COSM1102564	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94380381G>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Thr672Ile	rs1480642610	missense variant	-	NC_000008.11:g.94380377G>A	gnomAD
RAD54B	Q9Y620	p.Asn674Lys	rs76782918	missense variant	-	NC_000008.11:g.94380370G>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn674Lys	rs76782918	missense variant	-	NC_000008.11:g.94380370G>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu676TyrPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.94380365A>-	NCI-TCGA
RAD54B	Q9Y620	p.Gln677Ter	rs773028914	stop gained	-	NC_000008.11:g.94380363G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Gln677Lys	rs773028914	missense variant	-	NC_000008.11:g.94380363G>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Gln677Arg	rs769882901	missense variant	-	NC_000008.11:g.94380362T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu678Lys	rs781089044	missense variant	-	NC_000008.11:g.94380360C>T	ExAC
RAD54B	Q9Y620	p.Glu678Asp	COSM1102563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380358T>G	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Val679Leu	rs34588349	missense variant	-	NC_000008.11:g.94380357C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val679Ile	rs34588349	missense variant	-	NC_000008.11:g.94380357C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Lys681Thr	COSM1102562	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380350T>G	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Arg682His	rs147142817	missense variant	-	NC_000008.11:g.94380347C>T	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg682Cys	rs746694103	missense variant	-	NC_000008.11:g.94380348G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly684Glu	rs1177040229	missense variant	-	NC_000008.11:g.94380341C>T	TOPMed
RAD54B	Q9Y620	p.Tyr687Asn	rs750787729	missense variant	-	NC_000008.11:g.94380333A>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Tyr687His	rs750787729	missense variant	-	NC_000008.11:g.94380333A>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr688Ile	rs114429430	missense variant	-	NC_000008.11:g.94380329G>A	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asp691Asn	rs1400780528	missense variant	-	NC_000008.11:g.94380321C>T	TOPMed
RAD54B	Q9Y620	p.Asp691Glu	rs1464245315	missense variant	-	NC_000008.11:g.94380319A>C	gnomAD
RAD54B	Q9Y620	p.Pro695Ala	rs755673989	missense variant	-	NC_000008.11:g.94380309G>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile696Val	rs759103066	missense variant	-	NC_000008.11:g.94380306T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile696Leu	COSM284448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380306T>G	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Ser697Pro	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94380303A>G	NCI-TCGA
RAD54B	Q9Y620	p.Gln701Pro	rs766302415	missense variant	-	NC_000008.11:g.94380290T>G	ExAC
RAD54B	Q9Y620	p.Val703Ala	rs36093849	missense variant	-	NC_000008.11:g.94380284A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asp704Asn	rs1439309857	missense variant	-	NC_000008.11:g.94380282C>T	TOPMed
RAD54B	Q9Y620	p.Gly705Ser	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94380279C>T	NCI-TCGA
RAD54B	Q9Y620	p.Asn707Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94380273T>C	NCI-TCGA
RAD54B	Q9Y620	p.Asn707Ser	rs138037330	missense variant	-	NC_000008.11:g.94380272T>C	ESP,TOPMed,gnomAD
RAD54B	Q9Y620	p.His710Arg	rs1469522083	missense variant	-	NC_000008.11:g.94380263T>C	gnomAD
RAD54B	Q9Y620	p.Ser712Pro	rs1212841721	missense variant	-	NC_000008.11:g.94380258A>G	gnomAD
RAD54B	Q9Y620	p.Ser712Tyr	rs1353923062	missense variant	-	NC_000008.11:g.94380257G>T	gnomAD
RAD54B	Q9Y620	p.Phe713Ser	rs769658383	missense variant	-	NC_000008.11:g.94380254A>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Phe714LeuPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.94380250A>-	NCI-TCGA
RAD54B	Q9Y620	p.Phe714Leu	rs776924419	missense variant	-	NC_000008.11:g.94380250A>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Phe714Ser	rs779510802	missense variant	-	NC_000008.11:g.94380251A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Phe714Cys	rs779510802	missense variant	-	NC_000008.11:g.94380251A>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ile715Val	rs1347094919	missense variant	-	NC_000008.11:g.94380249T>C	TOPMed
RAD54B	Q9Y620	p.Leu717Phe	rs1285129242	missense variant	-	NC_000008.11:g.94380241C>A	gnomAD
RAD54B	Q9Y620	p.Leu718Val	rs768818746	missense variant	-	NC_000008.11:g.94380240A>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser720Ter	COSM3779420	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94380233G>C	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Lys721Ile	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94380230T>A	NCI-TCGA
RAD54B	Q9Y620	p.Gly724Asp	rs1240326440	missense variant	-	NC_000008.11:g.94380221C>T	TOPMed
RAD54B	Q9Y620	p.Val725Leu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94380219C>A	NCI-TCGA
RAD54B	Q9Y620	p.Gly726Ala	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94380215C>G	NCI-TCGA
RAD54B	Q9Y620	p.Gly726Val	COSM454958	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380215C>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Leu727Phe	rs747079772	missense variant	-	NC_000008.11:g.94380213G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn728Ile	rs775751116	missense variant	-	NC_000008.11:g.94380209T>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu729Val	rs1454740066	missense variant	-	NC_000008.11:g.94380207G>C	gnomAD
RAD54B	Q9Y620	p.Ile730Thr	rs756340270	missense variant	-	NC_000008.11:g.94380203A>G	TOPMed
RAD54B	Q9Y620	p.Ile730Phe	rs772685781	missense variant	-	NC_000008.11:g.94380204T>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly731Glu	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94380200C>T	NCI-TCGA
RAD54B	Q9Y620	p.Leu735Phe	rs887209060	missense variant	-	NC_000008.11:g.94380187T>G	TOPMed
RAD54B	Q9Y620	p.Ile736Val	rs746401438	missense variant	-	NC_000008.11:g.94380186T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu737Val	rs1455143392	missense variant	-	NC_000008.11:g.94380183G>C	gnomAD
RAD54B	Q9Y620	p.Tyr738Cys	rs779107055	missense variant	-	NC_000008.11:g.94380179T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Tyr738His	rs1396331100	missense variant	-	NC_000008.11:g.94380180A>G	TOPMed
RAD54B	Q9Y620	p.Asp739Ala	COSM6181744	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380176T>G	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Ile740Val	rs747702171	missense variant	-	NC_000008.11:g.94380174T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Pro744Ala	rs919266827	missense variant	-	NC_000008.11:g.94380162G>C	TOPMed
RAD54B	Q9Y620	p.Asp747Gly	rs1349869154	missense variant	-	NC_000008.11:g.94380152T>C	gnomAD
RAD54B	Q9Y620	p.Ile748Phe	rs754695268	missense variant	-	NC_000008.11:g.94380150T>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Met751Ile	rs147396183	missense variant	-	NC_000008.11:g.94378629C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Met751Ile	rs147396183	missense variant	-	NC_000008.11:g.94378629C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser752Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94378627G>C	NCI-TCGA
RAD54B	Q9Y620	p.Ser752Tyr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94378627G>T	NCI-TCGA
RAD54B	Q9Y620	p.Arg756Ile	COSM1102561	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94378615C>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Asp757Gly	rs779468249	missense variant	-	NC_000008.11:g.94378612T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Asp757His	rs1257923699	missense variant	-	NC_000008.11:g.94378613C>G	TOPMed
RAD54B	Q9Y620	p.Gly758Asp	rs757913367	missense variant	-	NC_000008.11:g.94378609C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Gln759Ter	COSM4846596	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94378607G>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Pro762Ser	COSM3651920	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94378598G>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Val763Ile	rs1444835062	missense variant	-	NC_000008.11:g.94378595C>T	TOPMed
RAD54B	Q9Y620	p.His764Tyr	rs749959340	missense variant	-	NC_000008.11:g.94378592G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His764Arg	rs920269773	missense variant	-	NC_000008.11:g.94378591T>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile765Thr	rs1209508986	missense variant	-	NC_000008.11:g.94378588A>G	gnomAD
RAD54B	Q9Y620	p.Arg767Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94378582C>T	NCI-TCGA
RAD54B	Q9Y620	p.Leu768Val	rs757180812	missense variant	-	NC_000008.11:g.94378580G>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Leu769Pro	rs1441242026	missense variant	-	NC_000008.11:g.94378576A>G	TOPMed
RAD54B	Q9Y620	p.Thr770Ile	rs1322364586	missense variant	-	NC_000008.11:g.94378573G>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr771Ile	rs775859629	missense variant	-	NC_000008.11:g.94378570G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Thr771Arg	rs775859629	missense variant	-	NC_000008.11:g.94378570G>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Thr773Ala	rs1053803318	missense variant	-	NC_000008.11:g.94378378T>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile774Met	rs1374938993	missense variant	-	NC_000008.11:g.94378373T>C	gnomAD
RAD54B	Q9Y620	p.Glu775Asp	rs1279616127	missense variant	-	NC_000008.11:g.94378370T>A	gnomAD
RAD54B	Q9Y620	p.Glu776Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94378369C>A	NCI-TCGA
RAD54B	Q9Y620	p.Glu776Ala	rs1398361170	missense variant	-	NC_000008.11:g.94378368T>G	TOPMed
RAD54B	Q9Y620	p.Ile778Val	rs114429444	missense variant	-	NC_000008.11:g.94378363T>C	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg781Met	rs777645328	missense variant	-	NC_000008.11:g.94378353C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Gln782Arg	rs141251412	missense variant	-	NC_000008.11:g.94378350T>C	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser784Arg	rs752601314	missense variant	-	NC_000008.11:g.94378343A>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Lys785Thr	rs767851360	missense variant	-	NC_000008.11:g.94378341T>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Gly787Cys	COSM6114054	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94378336C>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Leu788Pro	rs759719271	missense variant	-	NC_000008.11:g.94378332A>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly790Arg	rs897014810	missense variant	-	NC_000008.11:g.94378327C>G	gnomAD
RAD54B	Q9Y620	p.Ala791Thr	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94378324C>T	NCI-TCGA
RAD54B	Q9Y620	p.Ala791GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.94378323_94378324insC	NCI-TCGA
RAD54B	Q9Y620	p.Val792Phe	rs1439102903	missense variant	-	NC_000008.11:g.94378321C>A	TOPMed,gnomAD
RAD54B	Q9Y620	p.Val792Ile	rs1439102903	missense variant	-	NC_000008.11:g.94378321C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Asp794Asn	rs535129404	missense variant	-	NC_000008.11:g.94378315C>T	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Asp794His	rs535129404	missense variant	-	NC_000008.11:g.94378315C>G	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Thr796Ala	rs763447551	missense variant	-	NC_000008.11:g.94378309T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr798Ile	rs1217465686	missense variant	-	NC_000008.11:g.94378302G>A	TOPMed
RAD54B	Q9Y620	p.Ser799Pro	rs574833527	missense variant	-	NC_000008.11:g.94378300A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.His801Tyr	rs1255830212	missense variant	-	NC_000008.11:g.94378294G>A	TOPMed
RAD54B	Q9Y620	p.His801Arg	rs1041669165	missense variant	-	NC_000008.11:g.94378293T>C	TOPMed
RAD54B	Q9Y620	p.Ile802Thr	rs148253477	missense variant	-	NC_000008.11:g.94378290A>G	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile802Phe	rs770340985	missense variant	-	NC_000008.11:g.94378291T>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Ser805Ter	rs1038624768	stop gained	-	NC_000008.11:g.94378281G>T	gnomAD
RAD54B	Q9Y620	p.Glu807Gly	COSM6114055	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94378275T>C	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Lys810Thr	rs777020825	missense variant	-	NC_000008.11:g.94378266T>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn811Ser	rs771688388	missense variant	-	NC_000008.11:g.94378263T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu812Phe	rs1432556487	missense variant	-	NC_000008.11:g.94378259C>A	gnomAD
RAD54B	Q9Y620	p.Leu812Val	rs745528495	missense variant	-	NC_000008.11:g.94378261A>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His816Arg	rs368681293	missense variant	-	NC_000008.11:g.94378248T>C	ESP,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu817Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94378246C>T	NCI-TCGA
RAD54B	Q9Y620	p.Glu817Gly	rs941263441	missense variant	-	NC_000008.11:g.94378245T>C	TOPMed
RAD54B	Q9Y620	p.Asp820Gly	rs778447402	missense variant	-	NC_000008.11:g.94378236T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Cys821Phe	rs770354023	missense variant	-	NC_000008.11:g.94378233C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Thr823Ala	rs1175819565	missense variant	-	NC_000008.11:g.94378228T>C	gnomAD
RAD54B	Q9Y620	p.His824Arg	rs143182528	missense variant	-	NC_000008.11:g.94378224T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His824Tyr	rs749192373	missense variant	-	NC_000008.11:g.94378225G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Asp825Gly	rs1049683331	missense variant	-	NC_000008.11:g.94378221T>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.CysGlu829Ter	rs1305547048	stop gained	-	NC_000008.11:g.94378209_94378210del	TOPMed
RAD54B	Q9Y620	p.Cys829Tyr	rs1341185068	missense variant	-	NC_000008.11:g.94378209C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Cys829Arg	rs552432318	missense variant	-	NC_000008.11:g.94378210A>G	1000Genomes,gnomAD
RAD54B	Q9Y620	p.Glu830Val	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94378206T>A	NCI-TCGA
RAD54B	Q9Y620	p.Thr832Ile	rs756190978	missense variant	-	NC_000008.11:g.94378200G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Gly833Arg	rs1234656226	missense variant	-	NC_000008.11:g.94378198C>T	TOPMed,gnomAD
RAD54B	Q9Y620	p.Gly833Glu	rs752511501	missense variant	-	NC_000008.11:g.94378197C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Glu835Lys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94378192C>T	NCI-TCGA
RAD54B	Q9Y620	p.Val836Ile	rs755182346	missense variant	-	NC_000008.11:g.94378189C>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His837Asp	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94378186G>C	NCI-TCGA
RAD54B	Q9Y620	p.Thr838Ile	rs751730777	missense variant	-	NC_000008.11:g.94378182G>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Thr838Arg	rs751730777	missense variant	-	NC_000008.11:g.94378182G>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Asp840GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000008.11:g.94372384_94372385insATAAC	NCI-TCGA
RAD54B	Q9Y620	p.Asp840Asn	rs1301358555	missense variant	-	NC_000008.11:g.94372385C>T	gnomAD
RAD54B	Q9Y620	p.Ser841Leu	rs199673928	missense variant	-	NC_000008.11:g.94372381G>A	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser841Ter	COSM454957	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94372381G>T	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Leu842TerAspLeuAsnUnk	rs753613034	stop gained	-	NC_000008.11:g.94372378_94372379insTTTAAATCTT	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu843LysPheSerTerUnk	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94372376_94372377insTGGAGATCATTTAAATCTTACAGATCCTTTT	NCI-TCGA
RAD54B	Q9Y620	p.Glu843Ter	NCI-TCGA novel	stop gained	-	NC_000008.11:g.94372376_94372377insTGGAGATCATTTAAATCTTA	NCI-TCGA
RAD54B	Q9Y620	p.Lys844Asn	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94372371T>G	NCI-TCGA
RAD54B	Q9Y620	p.Ile846Thr	rs937584896	missense variant	-	NC_000008.11:g.94372366A>G	TOPMed
RAD54B	Q9Y620	p.Val847Ile	rs374561449	missense variant	-	NC_000008.11:g.94372364C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Val847Ala	rs1188802321	missense variant	-	NC_000008.11:g.94372363A>G	gnomAD
RAD54B	Q9Y620	p.Arg849Gly	rs781064024	missense variant	-	NC_000008.11:g.94372358T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Asp850Asn	rs371532293	missense variant	-	NC_000008.11:g.94372355C>T	ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Cys851Gly	rs780131590	missense variant	-	NC_000008.11:g.94372352A>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Cys851Arg	rs780131590	missense variant	-	NC_000008.11:g.94372352A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Gln852Ter	COSM3651919	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94372349G>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Leu853Val	rs1196545716	missense variant	-	NC_000008.11:g.94372346G>C	gnomAD
RAD54B	Q9Y620	p.Gly854Arg	rs758686190	missense variant	-	NC_000008.11:g.94372343C>G	ExAC,gnomAD
RAD54B	Q9Y620	p.His856Arg	rs765323516	missense variant	-	NC_000008.11:g.94372336T>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.His857Asp	rs1339998905	missense variant	-	NC_000008.11:g.94372334G>C	gnomAD
RAD54B	Q9Y620	p.Gln858Arg	rs1302013791	missense variant	-	NC_000008.11:g.94372330T>C	TOPMed
RAD54B	Q9Y620	p.Lys859Gln	rs1393145275	missense variant	-	NC_000008.11:g.94372328T>G	gnomAD
RAD54B	Q9Y620	p.SerAsnSer860SerAsnTerLeuUnk	rs1330874239	stop gained	-	NC_000008.11:g.94372324_94372325insTTAG	gnomAD
RAD54B	Q9Y620	p.Ser860Phe	rs757720902	missense variant	-	NC_000008.11:g.94372324G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ser867Pro	rs764461313	missense variant	-	NC_000008.11:g.94372304A>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Met868Val	rs138789279	missense variant	-	NC_000008.11:g.94372301T>C	1000Genomes,ESP,TOPMed
RAD54B	Q9Y620	p.Ser869Cys	rs1306697613	missense variant	-	NC_000008.11:g.94372297G>C	TOPMed
RAD54B	Q9Y620	p.Ser869Thr	rs530979151	missense variant	-	NC_000008.11:g.94372298A>T	1000Genomes,ExAC,gnomAD
RAD54B	Q9Y620	p.Leu871Val	rs1015013570	missense variant	-	NC_000008.11:g.94372292G>C	TOPMed
RAD54B	Q9Y620	p.Gln873Glu	rs775991358	missense variant	-	NC_000008.11:g.94372286G>C	ExAC
RAD54B	Q9Y620	p.Trp874Cys	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94372281C>A	NCI-TCGA
RAD54B	Q9Y620	p.Lys875Arg	NCI-TCGA novel	missense variant	-	NC_000008.11:g.94372279T>C	NCI-TCGA
RAD54B	Q9Y620	p.Asp880Gly	rs116312454	missense variant	-	NC_000008.11:g.94372264T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asp880Ala	rs116312454	missense variant	-	NC_000008.11:g.94372264T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu882Phe	rs781292153	missense variant	-	NC_000008.11:g.94372257T>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu882Ter	rs377323859	stop gained	-	NC_000008.11:g.94372258A>T	ESP,ExAC,TOPMed
RAD54B	Q9Y620	p.Asn883Lys	rs769463453	missense variant	-	NC_000008.11:g.94372254A>T	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Leu884Phe	COSM3651918	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94372253G>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Thr885Arg	rs1193105811	missense variant	-	NC_000008.11:g.94372249G>C	TOPMed
RAD54B	Q9Y620	p.Pro887Ser	COSM3651917	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94372244G>A	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Phe888Val	rs1477041500	missense variant	-	NC_000008.11:g.94372241A>C	TOPMed,gnomAD
RAD54B	Q9Y620	p.Arg891Ile	rs748036751	missense variant	-	NC_000008.11:g.94372231C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu894Ter	rs768703754	stop gained	-	NC_000008.11:g.94372223C>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Glu894Lys	rs768703754	missense variant	-	NC_000008.11:g.94372223C>T	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn895Tyr	rs746748423	missense variant	-	NC_000008.11:g.94372220T>A	ExAC,gnomAD
RAD54B	Q9Y620	p.Asn895Ser	rs985628045	missense variant	-	NC_000008.11:g.94372219T>C	TOPMed
RAD54B	Q9Y620	p.Ile899Val	rs150017319	missense variant	-	NC_000008.11:g.94372208T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ile899Val	rs150017319	missense variant	-	NC_000008.11:g.94372208T>C	UniProt,dbSNP
RAD54B	Q9Y620	p.Ile899Val	VAR_075090	missense variant	-	NC_000008.11:g.94372208T>C	UniProt
RAD54B	Q9Y620	p.Phe900Ser	rs758501111	missense variant	-	NC_000008.11:g.94372204A>G	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gln901Glu	rs528440749	missense variant	-	NC_000008.11:g.94372202G>C	1000Genomes,ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Asn902Thr	rs778898078	missense variant	-	NC_000008.11:g.94372198T>G	ExAC,gnomAD
RAD54B	Q9Y620	p.Thr904Ile	rs1354452394	missense variant	-	NC_000008.11:g.94372192G>A	gnomAD
RAD54B	Q9Y620	p.Thr904Ala	COSM3902138	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94372193T>C	NCI-TCGA Cosmic
RAD54B	Q9Y620	p.Gln906Glu	rs757342587	missense variant	-	NC_000008.11:g.94372187G>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Gln906Ter	rs757342587	stop gained	-	NC_000008.11:g.94372187G>A	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Ala907Gly	rs753978950	missense variant	-	NC_000008.11:g.94372183G>C	ExAC,TOPMed,gnomAD
RAD54B	Q9Y620	p.Thr908Ala	rs1373718125	missense variant	-	NC_000008.11:g.94372181T>C	gnomAD
RAD54B	Q9Y620	p.Thr908Ile	rs1324608760	missense variant	-	NC_000008.11:g.94372180G>A	gnomAD
RAD54B	Q9Y620	p.Thr910Ile	rs1389228427	missense variant	-	NC_000008.11:g.94372174G>A	gnomAD
RAD54B	Q9Y620	p.Thr910Ala	rs764504841	missense variant	-	NC_000008.11:g.94372175T>C	ExAC,gnomAD
RAD54B	Q9Y620	p.Ter911Gln	rs549196668	stop lost	-	NC_000008.11:g.94372172A>G	1000Genomes,ExAC,gnomAD
RFNG	Q9Y644	p.Arg3Pro	rs1198034608	missense variant	-	NC_000017.11:g.82051759C>G	TOPMed
RFNG	Q9Y644	p.Arg3Cys	rs527415468	missense variant	-	NC_000017.11:g.82051760G>A	1000Genomes,TOPMed,gnomAD
RFNG	Q9Y644	p.Ala4Pro	rs1233998350	missense variant	-	NC_000017.11:g.82051757C>G	TOPMed
RFNG	Q9Y644	p.Ala4Val	rs560366083	missense variant	-	NC_000017.11:g.82051756G>A	1000Genomes
RFNG	Q9Y644	p.Arg5Leu	rs1180531087	missense variant	-	NC_000017.11:g.82051753C>A	TOPMed
RFNG	Q9Y644	p.Arg5Gly	rs1481890738	missense variant	-	NC_000017.11:g.82051754G>C	TOPMed
RFNG	Q9Y644	p.Leu8Pro	rs1402999980	missense variant	-	NC_000017.11:g.82051744A>G	TOPMed,gnomAD
RFNG	Q9Y644	p.Leu15Met	rs1419505389	missense variant	-	NC_000017.11:g.82051724G>T	TOPMed
RFNG	Q9Y644	p.Ala17Val	rs1258024273	missense variant	-	NC_000017.11:g.82051717G>A	gnomAD
RFNG	Q9Y644	p.Ala17Thr	rs1463630374	missense variant	-	NC_000017.11:g.82051718C>T	TOPMed
RFNG	Q9Y644	p.Ala18Val	rs1214392814	missense variant	-	NC_000017.11:g.82051714G>A	gnomAD
RFNG	Q9Y644	p.Leu19Arg	rs1271435966	missense variant	-	NC_000017.11:g.82051711A>C	gnomAD
RFNG	Q9Y644	p.Leu19Met	rs1337114104	missense variant	-	NC_000017.11:g.82051712G>T	gnomAD
RFNG	Q9Y644	p.Ala21Ser	rs1475750646	missense variant	-	NC_000017.11:g.82051706C>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Ala21Val	rs913438528	missense variant	-	NC_000017.11:g.82051705G>A	TOPMed
RFNG	Q9Y644	p.Ala21Thr	rs1475750646	missense variant	-	NC_000017.11:g.82051706C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Leu22Pro	rs988937753	missense variant	-	NC_000017.11:g.82051702A>G	TOPMed
RFNG	Q9Y644	p.Pro26Ser	rs1244335832	missense variant	-	NC_000017.11:g.82051691G>A	gnomAD
RFNG	Q9Y644	p.Pro28Ser	rs1307417817	missense variant	-	NC_000017.11:g.82051685G>A	gnomAD
RFNG	Q9Y644	p.Ala32Val	rs1208638254	missense variant	-	NC_000017.11:g.82051672G>A	TOPMed
RFNG	Q9Y644	p.Pro35Ser	rs985878626	missense variant	-	NC_000017.11:g.82051664G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Pro35Leu	rs1190461255	missense variant	-	NC_000017.11:g.82051663G>A	TOPMed
RFNG	Q9Y644	p.Pro35Ala	rs985878626	missense variant	-	NC_000017.11:g.82051664G>C	TOPMed,gnomAD
RFNG	Q9Y644	p.Thr38Pro	rs996545970	missense variant	-	NC_000017.11:g.82051655T>G	TOPMed
RFNG	Q9Y644	p.Pro39Ser	rs1216387246	missense variant	-	NC_000017.11:g.82051652G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Ala40Thr	rs1411088799	missense variant	-	NC_000017.11:g.82051649C>T	TOPMed
RFNG	Q9Y644	p.Pro41Ala	rs954047714	missense variant	-	NC_000017.11:g.82051646G>C	TOPMed,gnomAD
RFNG	Q9Y644	p.Pro43Arg	rs1338785069	missense variant	-	NC_000017.11:g.82051639G>C	TOPMed
RFNG	Q9Y644	p.Pro43Thr	rs1435137340	missense variant	-	NC_000017.11:g.82051640G>T	TOPMed
RFNG	Q9Y644	p.Ala45Pro	rs1399620433	missense variant	-	NC_000017.11:g.82051634C>G	TOPMed
RFNG	Q9Y644	p.Ser48Ala	rs1282102564	missense variant	-	NC_000017.11:g.82051625A>C	TOPMed,gnomAD
RFNG	Q9Y644	p.Arg49Trp	rs1207827870	missense variant	-	NC_000017.11:g.82051622G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Pro50Leu	rs1162300435	missense variant	-	NC_000017.11:g.82051618G>A	gnomAD
RFNG	Q9Y644	p.Pro50Ala	rs1217495836	missense variant	-	NC_000017.11:g.82051619G>C	TOPMed
RFNG	Q9Y644	p.Ala51Pro	rs1278573828	missense variant	-	NC_000017.11:g.82051616C>G	TOPMed
RFNG	Q9Y644	p.Ala52Val	rs1364064587	missense variant	-	NC_000017.11:g.82051612G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Ser54Gly	rs767872701	missense variant	-	NC_000017.11:g.82051607T>C	ExAC,gnomAD
RFNG	Q9Y644	p.Ser54Cys	rs767872701	missense variant	-	NC_000017.11:g.82051607T>A	ExAC,gnomAD
RFNG	Q9Y644	p.Leu55Pro	rs1469825762	missense variant	-	NC_000017.11:g.82051603A>G	gnomAD
RFNG	Q9Y644	p.Arg56Gln	rs1209371800	missense variant	-	NC_000017.11:g.82051600C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Arg56Trp	rs1251246898	missense variant	-	NC_000017.11:g.82051601G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Pro57Leu	rs1188909073	missense variant	-	NC_000017.11:g.82051597G>A	TOPMed
RFNG	Q9Y644	p.Asp58Glu	rs1015473605	missense variant	-	NC_000017.11:g.82051593G>C	TOPMed,gnomAD
RFNG	Q9Y644	p.Asp59Gly	rs749521395	missense variant	-	NC_000017.11:g.82051591T>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Asp59Asn	rs1240906984	missense variant	-	NC_000017.11:g.82051592C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Asp59Tyr	rs1240906984	missense variant	-	NC_000017.11:g.82051592C>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Val60Ile	rs1308358715	missense variant	-	NC_000017.11:g.82051589C>T	gnomAD
RFNG	Q9Y644	p.Ile62Thr	rs1372480558	missense variant	-	NC_000017.11:g.82051582A>G	gnomAD
RFNG	Q9Y644	p.Ala63Thr	rs1385771186	missense variant	-	NC_000017.11:g.82051580C>T	gnomAD
RFNG	Q9Y644	p.Thr67Ser	rs1302731434	missense variant	-	NC_000017.11:g.82051567G>C	TOPMed
RFNG	Q9Y644	p.Arg68Trp	rs745892405	missense variant	-	NC_000017.11:g.82051565G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Asn70Ser	rs1380077887	missense variant	-	NC_000017.11:g.82051558T>C	gnomAD
RFNG	Q9Y644	p.Gly72Ala	rs757117555	missense variant	-	NC_000017.11:g.82051552C>G	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Gly72Arg	rs1393851694	missense variant	-	NC_000017.11:g.82051553C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Pro73Leu	rs1448340494	missense variant	-	NC_000017.11:g.82051549G>A	TOPMed
RFNG	Q9Y644	p.Pro73Ser	rs1447717174	missense variant	-	NC_000017.11:g.82051550G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Arg74Cys	rs747023686	missense variant	-	NC_000017.11:g.82051547G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Arg76Gln	rs1285072186	missense variant	-	NC_000017.11:g.82051540C>T	gnomAD
RFNG	Q9Y644	p.Arg80Cys	rs1273072952	missense variant	-	NC_000017.11:g.82051529G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Arg80His	rs1468915003	missense variant	-	NC_000017.11:g.82051528C>T	TOPMed
RFNG	Q9Y644	p.Arg80Ser	rs1273072952	missense variant	-	NC_000017.11:g.82051529G>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Trp82Ter	rs1297190275	stop gained	-	NC_000017.11:g.82051521C>T	gnomAD
RFNG	Q9Y644	p.Trp82Cys	rs1297190275	missense variant	-	NC_000017.11:g.82051521C>G	gnomAD
RFNG	Q9Y644	p.Ser84Phe	rs1469464173	missense variant	-	NC_000017.11:g.82051516G>A	TOPMed
RFNG	Q9Y644	p.Ala86Ser	rs758121697	missense variant	-	NC_000017.11:g.82051511C>A	ExAC,gnomAD
RFNG	Q9Y644	p.Gln89Ter	rs1437045911	stop gained	-	NC_000017.11:g.82051502G>A	gnomAD
RFNG	Q9Y644	p.Phe91Tyr	rs1015650188	missense variant	-	NC_000017.11:g.82051338A>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Ile92Met	rs1186686376	missense variant	-	NC_000017.11:g.82051334G>C	gnomAD
RFNG	Q9Y644	p.Phe93Leu	rs1438298807	missense variant	-	NC_000017.11:g.82051333A>G	gnomAD
RFNG	Q9Y644	p.Thr94Ser	rs1227459014	missense variant	-	NC_000017.11:g.82051329G>C	TOPMed
RFNG	Q9Y644	p.Asp95Asn	rs1196198067	missense variant	-	NC_000017.11:g.82051327C>T	gnomAD
RFNG	Q9Y644	p.Gly96Glu	rs776558955	missense variant	-	NC_000017.11:g.82051323C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Asp97Gly	rs1486815513	missense variant	-	NC_000017.11:g.82051320T>C	TOPMed
RFNG	Q9Y644	p.Asp98Asn	rs1324349986	missense variant	-	NC_000017.11:g.82051318C>T	gnomAD
RFNG	Q9Y644	p.Pro99Ser	rs777629635	missense variant	-	NC_000017.11:g.82051315G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Pro99Ala	rs777629635	missense variant	-	NC_000017.11:g.82051315G>C	ExAC,gnomAD
RFNG	Q9Y644	p.Glu102Asp	rs778721960	missense variant	-	NC_000017.11:g.82051304C>G	ExAC,gnomAD
RFNG	Q9Y644	p.Glu102Gln	rs1001889356	missense variant	-	NC_000017.11:g.82051306C>G	TOPMed,gnomAD
RFNG	Q9Y644	p.Glu102Lys	rs1001889356	missense variant	-	NC_000017.11:g.82051306C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Glu102Ala	rs1376480637	missense variant	-	NC_000017.11:g.82051305T>G	TOPMed
RFNG	Q9Y644	p.Gly106Asp	rs1301910322	missense variant	-	NC_000017.11:g.82050764C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Gly106Ser	rs200724330	missense variant	-	NC_000017.11:g.82051294C>T	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Asp107Asn	rs1186692949	missense variant	-	NC_000017.11:g.82050762C>T	gnomAD
RFNG	Q9Y644	p.Asp107His	rs1186692949	missense variant	-	NC_000017.11:g.82050762C>G	gnomAD
RFNG	Q9Y644	p.Asp107Glu	rs766603555	missense variant	-	NC_000017.11:g.82050760G>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg108Leu	rs756341641	missense variant	-	NC_000017.11:g.82050758C>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg108Pro	rs756341641	missense variant	-	NC_000017.11:g.82050758C>G	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg108His	rs756341641	missense variant	-	NC_000017.11:g.82050758C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Val109Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.82050756C>T	NCI-TCGA
RFNG	Q9Y644	p.Ile110Val	rs750576013	missense variant	-	NC_000017.11:g.82050753T>C	ExAC,gnomAD
RFNG	Q9Y644	p.Asn113Ser	rs1228490734	missense variant	-	NC_000017.11:g.82050743T>C	TOPMed
RFNG	Q9Y644	p.Ala116Ser	rs542353354	missense variant	-	NC_000017.11:g.82050735C>A	1000Genomes,ExAC,gnomAD
RFNG	Q9Y644	p.Ala116Val	rs761935342	missense variant	-	NC_000017.11:g.82050734G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Val117Met	rs146133084	missense variant	-	NC_000017.11:g.82050732C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg118His	rs762755184	missense variant	-	NC_000017.11:g.82050728C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg118Cys	rs761938920	missense variant	-	NC_000017.11:g.82050729G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Thr119Ser	rs1464499396	missense variant	-	NC_000017.11:g.82050725G>C	TOPMed,gnomAD
RFNG	Q9Y644	p.Thr119Ile	rs1464499396	missense variant	-	NC_000017.11:g.82050725G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Arg120His	rs1170495071	missense variant	-	NC_000017.11:g.82050722C>T	gnomAD
RFNG	Q9Y644	p.Arg120Cys	rs769649627	missense variant	-	NC_000017.11:g.82050723G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Gln121Ter	rs1466791581	stop gained	-	NC_000017.11:g.82050720G>A	gnomAD
RFNG	Q9Y644	p.Ala122Val	rs1190575655	missense variant	-	NC_000017.11:g.82050716G>A	TOPMed
RFNG	Q9Y644	p.Leu123Phe	rs1192489412	missense variant	-	NC_000017.11:g.82050714G>A	gnomAD
RFNG	Q9Y644	p.Cys124Tyr	rs1453963563	missense variant	-	NC_000017.11:g.82050710C>T	TOPMed
RFNG	Q9Y644	p.Cys125Tyr	rs368526938	missense variant	-	NC_000017.11:g.82050707C>T	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Met127Thr	rs777107462	missense variant	-	NC_000017.11:g.82050701A>G	ExAC,gnomAD
RFNG	Q9Y644	p.Met127Ile	rs769227376	missense variant	-	NC_000017.11:g.82050700C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Ser128Ala	rs148620643	missense variant	-	NC_000017.11:g.82050699A>C	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Val129Leu	rs1316161607	missense variant	-	NC_000017.11:g.82050696C>G	gnomAD
RFNG	Q9Y644	p.Glu130Ala	rs750770009	missense variant	-	NC_000017.11:g.82050692T>G	ExAC,gnomAD
RFNG	Q9Y644	p.Glu130Ter	rs756535894	stop gained	-	NC_000017.11:g.82050693C>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Glu130Lys	rs756535894	missense variant	-	NC_000017.11:g.82050693C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Glu130Gly	rs750770009	missense variant	-	NC_000017.11:g.82050692T>C	ExAC,gnomAD
RFNG	Q9Y644	p.Asp132Asn	COSM4828897	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.82050687C>T	NCI-TCGA Cosmic
RFNG	Q9Y644	p.Ile135Leu	rs764025962	missense variant	-	NC_000017.11:g.82050678T>G	ExAC,gnomAD
RFNG	Q9Y644	p.Gly138Arg	rs1298735833	missense variant	-	NC_000017.11:g.82050669C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Gly138Arg	rs1298735833	missense variant	-	NC_000017.11:g.82050669C>G	TOPMed,gnomAD
RFNG	Q9Y644	p.Arg139His	rs1169457660	missense variant	-	NC_000017.11:g.82050665C>T	gnomAD
RFNG	Q9Y644	p.Arg139Leu	rs1169457660	missense variant	-	NC_000017.11:g.82050665C>A	gnomAD
RFNG	Q9Y644	p.Arg139Cys	rs931541025	missense variant	-	NC_000017.11:g.82050666G>A	gnomAD
RFNG	Q9Y644	p.Arg139Ser	rs931541025	missense variant	-	NC_000017.11:g.82050666G>T	gnomAD
RFNG	Q9Y644	p.Trp141Ter	rs887192632	stop gained	-	NC_000017.11:g.82050552C>T	TOPMed
RFNG	Q9Y644	p.His144Tyr	rs1360433612	missense variant	-	NC_000017.11:g.82050545G>A	gnomAD
RFNG	Q9Y644	p.Val145Met	rs1467589494	missense variant	-	NC_000017.11:g.82050542C>T	gnomAD
RFNG	Q9Y644	p.Asp147Tyr	rs1198312278	missense variant	-	NC_000017.11:g.82050536C>A	gnomAD
RFNG	Q9Y644	p.Asp147Gly	rs1301001479	missense variant	-	NC_000017.11:g.82050535T>C	gnomAD
RFNG	Q9Y644	p.Val151Met	rs1229436243	missense variant	-	NC_000017.11:g.82050524C>T	TOPMed
RFNG	Q9Y644	p.Asn152Lys	rs112510774	missense variant	-	NC_000017.11:g.82050519G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Ala153Ser	rs202206613	missense variant	-	NC_000017.11:g.82050518C>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Ala153Thr	rs202206613	missense variant	-	NC_000017.11:g.82050518C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Ala153Val	rs767113527	missense variant	-	NC_000017.11:g.82050517G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Ala153Pro	rs202206613	missense variant	-	NC_000017.11:g.82050518C>G	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg154Lys	rs762449053	missense variant	-	NC_000017.11:g.82050514C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg154Gly	rs763532196	missense variant	-	NC_000017.11:g.82050515T>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg154Thr	rs762449053	missense variant	-	NC_000017.11:g.82050514C>G	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Ser155Arg	rs771449990	missense variant	-	NC_000017.11:g.82050510G>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Ser155Asn	rs777184292	missense variant	-	NC_000017.11:g.82050511C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Leu157Arg	rs747375805	missense variant	-	NC_000017.11:g.82050505A>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.His158Tyr	rs200562205	missense variant	-	NC_000017.11:g.82050503G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.His158Arg	rs1390390090	missense variant	-	NC_000017.11:g.82050502T>C	TOPMed
RFNG	Q9Y644	p.Leu160Pro	NCI-TCGA novel	missense variant	-	NC_000017.11:g.82050496A>G	NCI-TCGA
RFNG	Q9Y644	p.Leu160Phe	rs748322743	missense variant	-	NC_000017.11:g.82050497G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Ser162Gly	rs755173803	missense variant	-	NC_000017.11:g.82050491T>C	ExAC,gnomAD
RFNG	Q9Y644	p.Ser162Thr	rs1425984583	missense variant	-	NC_000017.11:g.82050490C>G	gnomAD
RFNG	Q9Y644	p.Phe163Leu	rs377391019	missense variant	-	NC_000017.11:g.82050486G>C	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro165Ser	rs750212566	missense variant	-	NC_000017.11:g.82050482G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Ser166Arg	rs751283445	missense variant	-	NC_000017.11:g.82050479T>G	ExAC,gnomAD
RFNG	Q9Y644	p.Ser166Gly	rs751283445	missense variant	-	NC_000017.11:g.82050479T>C	ExAC,gnomAD
RFNG	Q9Y644	p.Asp168Asn	rs1263039126	missense variant	-	NC_000017.11:g.82050473C>T	gnomAD
RFNG	Q9Y644	p.Val169Phe	rs372993379	missense variant	-	NC_000017.11:g.82050470C>A	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Val169Ile	rs372993379	missense variant	-	NC_000017.11:g.82050470C>T	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Tyr170His	rs1216444133	missense variant	-	NC_000017.11:g.82050467A>G	gnomAD
RFNG	Q9Y644	p.Arg173Gln	rs762263833	missense variant	-	NC_000017.11:g.82050457C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg173Trp	rs564843474	missense variant	-	NC_000017.11:g.82050458G>A	1000Genomes,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro174Ser	rs1334105403	missense variant	-	NC_000017.11:g.82050455G>A	gnomAD
RFNG	Q9Y644	p.Pro174Thr	rs1334105403	missense variant	-	NC_000017.11:g.82050455G>T	gnomAD
RFNG	Q9Y644	p.Pro174Leu	rs1248151294	missense variant	-	NC_000017.11:g.82050454G>A	TOPMed
RFNG	Q9Y644	p.Ser175Arg	rs112436072	missense variant	-	NC_000017.11:g.82050450G>C	gnomAD
RFNG	Q9Y644	p.Ser175Gly	rs768976736	missense variant	-	NC_000017.11:g.82050452T>C	ExAC,gnomAD
RFNG	Q9Y644	p.Asp177His	rs749417094	missense variant	-	NC_000017.11:g.82050446C>G	ExAC,gnomAD
RFNG	Q9Y644	p.Asp177Glu	rs780139221	missense variant	-	NC_000017.11:g.82050444G>T	ExAC,gnomAD
RFNG	Q9Y644	p.Ile180Thr	rs1178773217	missense variant	-	NC_000017.11:g.82050436A>G	TOPMed
RFNG	Q9Y644	p.Glu181Lys	rs1435072417	missense variant	-	NC_000017.11:g.82050434C>T	TOPMed
RFNG	Q9Y644	p.Ala182Val	rs757105853	missense variant	-	NC_000017.11:g.82050430G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Ala182Thr	rs1186755783	missense variant	-	NC_000017.11:g.82050431C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Thr183Ala	rs751336435	missense variant	-	NC_000017.11:g.82050428T>C	ExAC,gnomAD
RFNG	Q9Y644	p.Thr183Ile	rs777445595	missense variant	-	NC_000017.11:g.82050427G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Glu184Gln	rs370119266	missense variant	-	NC_000017.11:g.82050425C>G	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Glu184Lys	rs370119266	missense variant	-	NC_000017.11:g.82050425C>T	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Val186Phe	rs1354698492	missense variant	-	NC_000017.11:g.82050419C>A	gnomAD
RFNG	Q9Y644	p.Val186Ile	rs1354698492	missense variant	-	NC_000017.11:g.82050419C>T	gnomAD
RFNG	Q9Y644	p.Gln187Ter	rs761090207	stop gained	-	NC_000017.11:g.82050416G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Gln187Arg	rs1241537000	missense variant	-	NC_000017.11:g.82050415T>C	gnomAD
RFNG	Q9Y644	p.Gln187His	NCI-TCGA novel	missense variant	-	NC_000017.11:g.82050414C>A	NCI-TCGA
RFNG	Q9Y644	p.Gly188Ser	rs751005205	missense variant	-	NC_000017.11:g.82050413C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Arg190Lys	rs1446214395	missense variant	-	NC_000017.11:g.82050406C>T	gnomAD
RFNG	Q9Y644	p.Thr191Ile	rs375758380	missense variant	-	NC_000017.11:g.82050403G>A	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Val192Met	rs778468309	missense variant	-	NC_000017.11:g.82050006C>T	ExAC
RFNG	Q9Y644	p.Thr194Met	rs753131665	missense variant	-	NC_000017.11:g.82049999G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Val195Ile	rs755235445	missense variant	-	NC_000017.11:g.82049997C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Lys196Asn	rs147282261	missense variant	-	NC_000017.11:g.82049992C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Trp198Ter	rs767519998	stop gained	-	NC_000017.11:g.82049986C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Trp198Ser	rs1340261964	missense variant	-	NC_000017.11:g.82049987C>G	TOPMed
RFNG	Q9Y644	p.Phe199Leu	rs761603203	missense variant	-	NC_000017.11:g.82049985A>G	ExAC,gnomAD
RFNG	Q9Y644	p.Phe199Tyr	rs1466842745	missense variant	-	NC_000017.11:g.82049984A>T	gnomAD
RFNG	Q9Y644	p.Ala200Gly	rs1450256074	missense variant	-	NC_000017.11:g.82049981G>C	TOPMed,gnomAD
RFNG	Q9Y644	p.Thr201Ile	rs774207300	missense variant	-	NC_000017.11:g.82049978G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Gly202Asp	rs1424772863	missense variant	-	NC_000017.11:g.82049975C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Gly205Arg	rs1482917544	missense variant	-	NC_000017.11:g.82049967C>T	TOPMed
RFNG	Q9Y644	p.Gly205Glu	rs769544939	missense variant	-	NC_000017.11:g.82049966C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Cys207Ser	rs201812335	missense variant	-	NC_000017.11:g.82049960C>G	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Cys207Tyr	rs201812335	missense variant	-	NC_000017.11:g.82049960C>T	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Leu208His	rs1251022459	missense variant	-	NC_000017.11:g.82049957A>T	gnomAD
RFNG	Q9Y644	p.Ser209Arg	rs779473081	missense variant	-	NC_000017.11:g.82049953G>C	ExAC,gnomAD
RFNG	Q9Y644	p.Ser209Ile	rs1411996467	missense variant	-	NC_000017.11:g.82049954C>A	TOPMed
RFNG	Q9Y644	p.Arg210Gly	rs755357276	missense variant	-	NC_000017.11:g.82049952T>C	ExAC,gnomAD
RFNG	Q9Y644	p.Gly211Asp	rs754177910	missense variant	-	NC_000017.11:g.82049948C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Gly211Val	rs754177910	missense variant	-	NC_000017.11:g.82049948C>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Leu212Phe	rs767226162	missense variant	-	NC_000017.11:g.82049946G>A	gnomAD
RFNG	Q9Y644	p.Ala213Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.82049942G>A	NCI-TCGA
RFNG	Q9Y644	p.Leu214Phe	rs767434700	missense variant	-	NC_000017.11:g.82049940G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Lys215Glu	rs761810901	missense variant	-	NC_000017.11:g.82049937T>C	ExAC,gnomAD
RFNG	Q9Y644	p.Ser217Arg	rs751515518	missense variant	-	NC_000017.11:g.82049929G>C	ExAC,gnomAD
RFNG	Q9Y644	p.Pro218Leu	rs1044444069	missense variant	-	NC_000017.11:g.82049927G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Pro218Thr	rs1304617958	missense variant	-	NC_000017.11:g.82049928G>T	TOPMed
RFNG	Q9Y644	p.Trp219Gly	rs1444533773	missense variant	-	NC_000017.11:g.82049925A>C	gnomAD
RFNG	Q9Y644	p.Trp219Ter	rs1381552424	stop gained	-	NC_000017.11:g.82049923C>T	gnomAD
RFNG	Q9Y644	p.Ala220Thr	rs764075934	missense variant	-	NC_000017.11:g.82049922C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Gly223Ser	rs757464403	missense variant	-	NC_000017.11:g.82049838C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Met226Val	rs1376068755	missense variant	-	NC_000017.11:g.82049829T>C	gnomAD
RFNG	Q9Y644	p.Ser227Asn	rs1176019611	missense variant	-	NC_000017.11:g.82049825C>T	gnomAD
RFNG	Q9Y644	p.Glu230Lys	rs1017363835	missense variant	-	NC_000017.11:g.82049817C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Gln231Ter	rs1195631810	stop gained	-	NC_000017.11:g.82049814G>A	gnomAD
RFNG	Q9Y644	p.Val232Met	rs1202124625	missense variant	-	NC_000017.11:g.82049811C>T	TOPMed
RFNG	Q9Y644	p.Arg233Gln	rs758418861	missense variant	-	NC_000017.11:g.82049807C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Arg233Trp	rs534584318	missense variant	-	NC_000017.11:g.82049808G>A	1000Genomes,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro235Ala	rs752750346	missense variant	-	NC_000017.11:g.82049802G>C	ExAC,gnomAD
RFNG	Q9Y644	p.Pro235Leu	rs765253576	missense variant	-	NC_000017.11:g.82049801G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Asp237Glu	rs1222545975	missense variant	-	NC_000017.11:g.82049794G>C	gnomAD
RFNG	Q9Y644	p.Asp237Asn	NCI-TCGA novel	missense variant	-	NC_000017.11:g.82049796C>T	NCI-TCGA
RFNG	Q9Y644	p.Thr239Ala	rs753639592	missense variant	-	NC_000017.11:g.82049790T>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Tyr242Cys	rs1225778807	missense variant	-	NC_000017.11:g.82049780T>C	gnomAD
RFNG	Q9Y644	p.Ile243Val	rs1326343841	missense variant	-	NC_000017.11:g.82049778T>C	gnomAD
RFNG	Q9Y644	p.Val244Met	rs765977318	missense variant	-	NC_000017.11:g.82049775C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Glu245Val	NCI-TCGA novel	missense variant	-	NC_000017.11:g.82049771T>A	NCI-TCGA
RFNG	Q9Y644	p.Leu248Pro	rs899061044	missense variant	-	NC_000017.11:g.82049762A>G	gnomAD
RFNG	Q9Y644	p.Gly249Asp	rs761303825	missense variant	-	NC_000017.11:g.82049759C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Ala250Thr	rs770261294	missense variant	-	NC_000017.11:g.82049757C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Ala250Val	rs1424987754	missense variant	-	NC_000017.11:g.82049756G>A	gnomAD
RFNG	Q9Y644	p.Arg251Cys	rs771075644	missense variant	-	NC_000017.11:g.82049754G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Arg251His	rs747191255	missense variant	-	NC_000017.11:g.82049753C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg251Ser	rs771075644	missense variant	-	NC_000017.11:g.82049754G>T	ExAC,gnomAD
RFNG	Q9Y644	p.His254Arg	rs1239545201	missense variant	-	NC_000017.11:g.82049744T>C	gnomAD
RFNG	Q9Y644	p.Pro256Leu	rs1339173511	missense variant	-	NC_000017.11:g.82049738G>A	gnomAD
RFNG	Q9Y644	p.Pro256Ser	rs772335800	missense variant	-	NC_000017.11:g.82049739G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Leu257His	rs1247601504	missense variant	-	NC_000017.11:g.82049735A>T	gnomAD
RFNG	Q9Y644	p.Leu257Ile	NCI-TCGA novel	missense variant	-	NC_000017.11:g.82049736G>T	NCI-TCGA
RFNG	Q9Y644	p.Phe258Leu	rs1225153063	missense variant	-	NC_000017.11:g.82049733A>G	TOPMed
RFNG	Q9Y644	p.His259Asn	rs1250112433	missense variant	-	NC_000017.11:g.82049730G>T	TOPMed
RFNG	Q9Y644	p.His261Gln	rs1012968896	missense variant	-	NC_000017.11:g.82049722G>C	TOPMed,gnomAD
RFNG	Q9Y644	p.Arg267Lys	rs368469722	missense variant	-	NC_000017.11:g.82049705C>T	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro269Leu	rs1383377005	missense variant	-	NC_000017.11:g.82049699G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Pro270Leu	rs1426835718	missense variant	-	NC_000017.11:g.82049696G>A	TOPMed
RFNG	Q9Y644	p.Asp271Asn	rs1239545635	missense variant	-	NC_000017.11:g.82049694C>T	gnomAD
RFNG	Q9Y644	p.Thr278Ile	rs370979534	missense variant	-	NC_000017.11:g.82049112G>A	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Thr278Ala	rs750384196	missense variant	-	NC_000017.11:g.82049113T>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.His281Tyr	rs1243956307	missense variant	-	NC_000017.11:g.82049104G>A	TOPMed
RFNG	Q9Y644	p.His281Arg	rs1425036581	missense variant	-	NC_000017.11:g.82049103T>C	gnomAD
RFNG	Q9Y644	p.Gly283Ser	rs1187640863	missense variant	-	NC_000017.11:g.82049098C>T	gnomAD
RFNG	Q9Y644	p.Pro284Ser	rs774244196	missense variant	-	NC_000017.11:g.82049095G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Glu285Gln	rs762633441	missense variant	-	NC_000017.11:g.82049092C>G	ExAC,TOPMed
RFNG	Q9Y644	p.Glu285Ter	rs762633441	stop gained	-	NC_000017.11:g.82049092C>A	ExAC,TOPMed
RFNG	Q9Y644	p.Asn286Lys	rs775279163	missense variant	-	NC_000017.11:g.82049087G>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro287Ala	rs143662745	missense variant	-	NC_000017.11:g.82049086G>C	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro287Ser	rs143662745	missense variant	-	NC_000017.11:g.82049086G>A	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro287Arg	rs1265250180	missense variant	-	NC_000017.11:g.82049085G>C	gnomAD
RFNG	Q9Y644	p.His288Arg	rs74659471	missense variant	-	NC_000017.11:g.82049082T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.His288Gln	rs12948507	missense variant	-	NC_000017.11:g.82049081A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.His288Gln	rs12948507	missense variant	-	NC_000017.11:g.82049081A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Val290Met	rs201463115	missense variant	-	NC_000017.11:g.82049077C>T	1000Genomes,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Val291Gly	rs1267878963	missense variant	-	NC_000017.11:g.82049073A>C	TOPMed,gnomAD
RFNG	Q9Y644	p.Val291Met	rs1364073477	missense variant	-	NC_000017.11:g.82049074C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Val293Leu	rs377490634	missense variant	-	NC_000017.11:g.82049068C>G	ESP,TOPMed,gnomAD
RFNG	Q9Y644	p.Val293Met	rs377490634	missense variant	-	NC_000017.11:g.82049068C>T	ESP,TOPMed,gnomAD
RFNG	Q9Y644	p.Ala294Val	rs755199513	missense variant	-	NC_000017.11:g.82049064G>A	ExAC,TOPMed
RFNG	Q9Y644	p.Ala294Thr	rs373836166	missense variant	-	NC_000017.11:g.82049065C>T	ESP
RFNG	Q9Y644	p.Ala294Gly	rs755199513	missense variant	-	NC_000017.11:g.82049064G>C	ExAC,TOPMed
RFNG	Q9Y644	p.Gly295Glu	rs1338333976	missense variant	-	NC_000017.11:g.82049061C>T	gnomAD
RFNG	Q9Y644	p.Gly296Asp	rs749577038	missense variant	-	NC_000017.11:g.82049058C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Gly296Ser	NCI-TCGA novel	missense variant	-	NC_000017.11:g.82049059C>T	NCI-TCGA
RFNG	Q9Y644	p.Phe297Val	rs1322101427	missense variant	-	NC_000017.11:g.82049056A>C	TOPMed
RFNG	Q9Y644	p.Ser298Arg	rs750480756	missense variant	-	NC_000017.11:g.82049051G>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Leu299Val	rs1418062884	missense variant	-	NC_000017.11:g.82049050G>C	gnomAD
RFNG	Q9Y644	p.His300Pro	rs143745130	missense variant	-	NC_000017.11:g.82049046T>G	1000Genomes,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.His300Tyr	rs751411901	missense variant	-	NC_000017.11:g.82049047G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Gln301Ter	rs762830482	stop gained	-	NC_000017.11:g.82049044G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Asp302Glu	rs145447246	missense variant	-	NC_000017.11:g.82049039G>T	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Asp302Val	rs1483070373	missense variant	-	NC_000017.11:g.82049040T>A	gnomAD
RFNG	Q9Y644	p.Pro303Leu	rs997941687	missense variant	-	NC_000017.11:g.82049037G>A	gnomAD
RFNG	Q9Y644	p.Pro303His	rs997941687	missense variant	-	NC_000017.11:g.82049037G>T	gnomAD
RFNG	Q9Y644	p.Thr304Ala	rs1205025770	missense variant	-	NC_000017.11:g.82049035T>C	gnomAD
RFNG	Q9Y644	p.Arg305Trp	rs138202141	missense variant	-	NC_000017.11:g.82049032G>A	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg305Gln	rs1027817427	missense variant	-	NC_000017.11:g.82049031C>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Arg305Leu	rs1027817427	missense variant	-	NC_000017.11:g.82049031C>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Ile309Leu	rs771239830	missense variant	-	NC_000017.11:g.82048797T>G	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Ile309Asn	rs1310473479	missense variant	-	NC_000017.11:g.82048796A>T	TOPMed,gnomAD
RFNG	Q9Y644	p.Ile309Val	rs771239830	missense variant	-	NC_000017.11:g.82048797T>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.His310Tyr	rs1470129785	missense variant	-	NC_000017.11:g.82048794G>A	gnomAD
RFNG	Q9Y644	p.Leu312Phe	rs755250241	missense variant	-	NC_000017.11:g.82048788G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Pro315Ser	rs777945991	missense variant	-	NC_000017.11:g.82048779G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro315Ala	rs777945991	missense variant	-	NC_000017.11:g.82048779G>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro315Gln	rs1314828121	missense variant	-	NC_000017.11:g.82048778G>T	TOPMed
RFNG	Q9Y644	p.Asp316His	rs1451887978	missense variant	-	NC_000017.11:g.82048776C>G	TOPMed,gnomAD
RFNG	Q9Y644	p.Thr317Met	rs778704463	missense variant	-	NC_000017.11:g.82048772G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Thr317Arg	rs778704463	missense variant	-	NC_000017.11:g.82048772G>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Thr317Ala	rs1187821563	missense variant	-	NC_000017.11:g.82048773T>C	gnomAD
RFNG	Q9Y644	p.Trp319Ter	rs1326127269	stop gained	-	NC_000017.11:g.82048766C>T	gnomAD
RFNG	Q9Y644	p.Trp319Arg	rs1204661259	missense variant	-	NC_000017.11:g.82048767A>T	gnomAD
RFNG	Q9Y644	p.Cys320Tyr	rs1437310602	missense variant	-	NC_000017.11:g.82048763C>T	TOPMed
RFNG	Q9Y644	p.Pro321Ala	rs753542213	missense variant	-	NC_000017.11:g.82048761G>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg322Lys	rs1460176868	missense variant	-	NC_000017.11:g.82048757C>T	TOPMed
RFNG	Q9Y644	p.Gln323Ter	rs755709933	stop gained	-	NC_000017.11:g.82048755G>A	ExAC,gnomAD
RFNG	Q9Y644	p.Gln325Glu	rs1045904695	missense variant	-	NC_000017.11:g.82048749G>C	TOPMed,gnomAD
RFNG	Q9Y644	p.Gln325Ter	rs1045904695	stop gained	-	NC_000017.11:g.82048749G>A	TOPMed,gnomAD
RFNG	Q9Y644	p.Gly326Ser	rs749948798	missense variant	-	NC_000017.11:g.82048746C>T	ExAC,gnomAD
RFNG	Q9Y644	p.Ala327Thr	rs144203478	missense variant	-	NC_000017.11:g.82048743C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Pro328Leu	rs367653769	missense variant	-	NC_000017.11:g.82048739G>A	ESP,ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Thr329Ile	rs1054503623	missense variant	-	NC_000017.11:g.82048736G>A	TOPMed
RFNG	Q9Y644	p.Arg331Trp	rs776812647	missense variant	-	NC_000017.11:g.82048731G>A	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg331Gln	rs766721516	missense variant	-	NC_000017.11:g.82048730C>T	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Arg331Gly	rs776812647	missense variant	-	NC_000017.11:g.82048731G>C	ExAC,TOPMed,gnomAD
RFNG	Q9Y644	p.Ter332Cys	rs150121399	stop lost	-	NC_000017.11:g.82048726T>G	ESP,ExAC,gnomAD
WNT6	Q9Y6F9	p.Leu2Met	rs1340798671	missense variant	-	NC_000002.12:g.218860041C>A	TOPMed
WNT6	Q9Y6F9	p.Pro3Thr	rs1199015326	missense variant	-	NC_000002.12:g.218860044C>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ser7Cys	rs1195489024	missense variant	-	NC_000002.12:g.218860057C>G	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg8Cys	rs1424085664	missense variant	-	NC_000002.12:g.218860059C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Leu11Gln	rs1197189059	missense variant	-	NC_000002.12:g.218860069T>A	TOPMed
WNT6	Q9Y6F9	p.Leu13Pro	rs1392847695	missense variant	-	NC_000002.12:g.218860075T>C	gnomAD
WNT6	Q9Y6F9	p.Leu15Pro	rs1407136575	missense variant	-	NC_000002.12:g.218860081T>C	gnomAD
WNT6	Q9Y6F9	p.Leu16Phe	rs1440637041	missense variant	-	NC_000002.12:g.218860083C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Pro19Ser	rs1398389545	missense variant	-	NC_000002.12:g.218860092C>T	gnomAD
WNT6	Q9Y6F9	p.Ala20Val	rs1369314126	missense variant	-	NC_000002.12:g.218860096C>T	gnomAD
WNT6	Q9Y6F9	p.Gly23Asp	rs1031355350	missense variant	-	NC_000002.12:g.218860105G>A	TOPMed
WNT6	Q9Y6F9	p.Gly24Arg	rs1341507897	missense variant	-	NC_000002.12:g.218860107G>C	gnomAD
WNT6	Q9Y6F9	p.Trp26Ter	rs1359103727	stop gained	-	NC_000002.12:g.218860115G>A	gnomAD
WNT6	Q9Y6F9	p.Trp27Leu	rs1209872593	missense variant	-	NC_000002.12:g.218860117G>T	gnomAD
WNT6	Q9Y6F9	p.Trp27Ter	COSM3577819	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.218871027G>A	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Val29Met	rs780785339	missense variant	-	NC_000002.12:g.218871031G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Pro32Leu	rs1181153824	missense variant	-	NC_000002.12:g.218871041C>T	TOPMed
WNT6	Q9Y6F9	p.Leu33Phe	rs145172448	missense variant	-	NC_000002.12:g.218871045G>T	ESP,ExAC,gnomAD
WNT6	Q9Y6F9	p.Asp36Glu	rs201489407	missense variant	-	NC_000002.12:g.218871054C>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Asp36Glu	rs201489407	missense variant	-	NC_000002.12:g.218871054C>G	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Pro37Thr	rs1301398523	missense variant	-	NC_000002.12:g.218871055C>A	gnomAD
WNT6	Q9Y6F9	p.Pro37Leu	rs769180401	missense variant	-	NC_000002.12:g.218871056C>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Pro37Ser	rs1301398523	missense variant	-	NC_000002.12:g.218871055C>T	gnomAD
WNT6	Q9Y6F9	p.Thr38Ile	rs1278580129	missense variant	-	NC_000002.12:g.218871059C>T	TOPMed
WNT6	Q9Y6F9	p.Thr38Ala	rs1485479603	missense variant	-	NC_000002.12:g.218871058A>G	TOPMed
WNT6	Q9Y6F9	p.Ser39Asn	rs1376891264	missense variant	-	NC_000002.12:g.218871062G>A	TOPMed
WNT6	Q9Y6F9	p.Cys41Trp	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218871069C>G	NCI-TCGA
WNT6	Q9Y6F9	p.Lys43Glu	rs772203707	missense variant	-	NC_000002.12:g.218871073A>G	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala44Val	rs1241626877	missense variant	-	NC_000002.12:g.218871077C>T	gnomAD
WNT6	Q9Y6F9	p.Arg45Gln	rs140352698	missense variant	-	NC_000002.12:g.218871080G>A	ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg45Trp	rs773512750	missense variant	-	NC_000002.12:g.218871079C>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg45Pro	rs140352698	missense variant	-	NC_000002.12:g.218871080G>C	ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg46Gln	rs200973144	missense variant	-	NC_000002.12:g.218871083G>A	1000Genomes,ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg46Trp	rs766635655	missense variant	-	NC_000002.12:g.218871082C>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Leu47Val	rs1345449697	missense variant	-	NC_000002.12:g.218871085C>G	gnomAD
WNT6	Q9Y6F9	p.Arg50Trp	rs751343972	missense variant	-	NC_000002.12:g.218871094C>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg50Gln	rs1432729218	missense variant	-	NC_000002.12:g.218871095G>A	gnomAD
WNT6	Q9Y6F9	p.Gln51His	rs1174212096	missense variant	-	NC_000002.12:g.218871099G>T	gnomAD
WNT6	Q9Y6F9	p.Gln51Ter	NCI-TCGA novel	stop gained	-	NC_000002.12:g.218871097C>T	NCI-TCGA
WNT6	Q9Y6F9	p.Gln51Leu	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218871098A>T	NCI-TCGA
WNT6	Q9Y6F9	p.Glu53Asp	rs62193325	missense variant	-	NC_000002.12:g.218871105G>C	TOPMed
WNT6	Q9Y6F9	p.Leu54Ser	rs750141599	missense variant	-	NC_000002.12:g.218871107T>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala57Thr	rs1398691691	missense variant	-	NC_000002.12:g.218871115G>A	gnomAD
WNT6	Q9Y6F9	p.Ala57Ser	COSM4909936	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218871115G>T	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Ala57Val	rs1449661909	missense variant	-	NC_000002.12:g.218871116C>T	gnomAD
WNT6	Q9Y6F9	p.Val61Ala	rs755750604	missense variant	-	NC_000002.12:g.218871128T>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Val62Ala	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218871131T>C	NCI-TCGA
WNT6	Q9Y6F9	p.Ala63Thr	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218871133G>A	NCI-TCGA
WNT6	Q9Y6F9	p.Glu64Lys	rs779584695	missense variant	-	NC_000002.12:g.218871136G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Glu64Gln	rs779584695	missense variant	-	NC_000002.12:g.218871136G>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg67Gln	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218871146G>A	NCI-TCGA
WNT6	Q9Y6F9	p.Arg70Trp	rs142171369	missense variant	-	NC_000002.12:g.218871154C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg70Gly	rs142171369	missense variant	-	NC_000002.12:g.218871154C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg70Gln	rs769072287	missense variant	-	NC_000002.12:g.218871155G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly72Arg	rs779424323	missense variant	-	NC_000002.12:g.218871160G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Gly72Ala	rs748477624	missense variant	-	NC_000002.12:g.218871161G>C	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Val73Met	rs1199175142	missense variant	-	NC_000002.12:g.218871163G>A	gnomAD
WNT6	Q9Y6F9	p.Arg74Pro	rs772501701	missense variant	-	NC_000002.12:g.218871167G>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg74Ter	rs1272538134	stop gained	-	NC_000002.12:g.218871166C>T	gnomAD
WNT6	Q9Y6F9	p.Glu75Gly	rs773710947	missense variant	-	NC_000002.12:g.218871170A>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Cys76Phe	rs1160038499	missense variant	-	NC_000002.12:g.218871173G>T	TOPMed
WNT6	Q9Y6F9	p.Phe80Leu	rs761039722	missense variant	-	NC_000002.12:g.218871184T>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg81Leu	rs771256486	missense variant	-	NC_000002.12:g.218871188G>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg81His	COSM442329	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218871188G>A	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Arg83His	rs375560904	missense variant	-	NC_000002.12:g.218871194G>A	ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg83Cys	rs1056076691	missense variant	-	NC_000002.12:g.218871193C>T	TOPMed
WNT6	Q9Y6F9	p.Arg84His	rs140404341	missense variant	-	NC_000002.12:g.218871197G>A	ESP,ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg84Leu	rs140404341	missense variant	-	NC_000002.12:g.218871197G>T	ESP,ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg84Gly	rs1172007017	missense variant	-	NC_000002.12:g.218871196C>G	gnomAD
WNT6	Q9Y6F9	p.Asn86Ile	rs751445354	missense variant	-	NC_000002.12:g.218871203A>T	ExAC
WNT6	Q9Y6F9	p.Cys87Ser	rs761650162	missense variant	-	NC_000002.12:g.218871206G>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ser88Pro	rs767357421	missense variant	-	NC_000002.12:g.218871208T>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.His90Asp	rs750196516	missense variant	-	NC_000002.12:g.218871214C>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Lys92Asn	rs1275969767	missense variant	-	NC_000002.12:g.218871222G>C	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala93Thr	rs1203845521	missense variant	-	NC_000002.12:g.218871223G>A	TOPMed
WNT6	Q9Y6F9	p.Gly95Arg	rs1342132970	missense variant	-	NC_000002.12:g.218871229G>A	gnomAD
WNT6	Q9Y6F9	p.Arg96Gly	rs1219050043	missense variant	-	NC_000002.12:g.218871232C>G	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg96His	rs1269438985	missense variant	-	NC_000002.12:g.218871233G>A	TOPMed
WNT6	Q9Y6F9	p.Gln100Leu	rs779638051	missense variant	-	NC_000002.12:g.218871245A>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gln100Pro	rs779638051	missense variant	-	NC_000002.12:g.218871245A>C	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Asp101Asn	rs753307256	missense variant	-	NC_000002.12:g.218871247G>A	ExAC
WNT6	Q9Y6F9	p.Ile102Leu	rs752129836	missense variant	-	NC_000002.12:g.218871487A>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg103Gln	rs1333199200	missense variant	-	NC_000002.12:g.218871491G>A	gnomAD
WNT6	Q9Y6F9	p.Thr105Met	rs759013954	missense variant	-	NC_000002.12:g.218871497C>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Phe107Leu	rs747402701	missense variant	-	NC_000002.12:g.218871504C>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala110Ser	rs749339350	missense variant	-	NC_000002.12:g.218871511G>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala110Val	rs1356049756	missense variant	-	NC_000002.12:g.218871512C>T	gnomAD
WNT6	Q9Y6F9	p.Ile111Met	rs781404768	missense variant	-	NC_000002.12:g.218871516C>G	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Thr112Ile	rs894739463	missense variant	-	NC_000002.12:g.218871518C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala116Pro	rs200758649	missense variant	-	NC_000002.12:g.218871529G>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ser117Thr	rs1176164524	missense variant	-	NC_000002.12:g.218871533G>C	gnomAD
WNT6	Q9Y6F9	p.Ala119Val	rs1239483344	missense variant	-	NC_000002.12:g.218871539C>T	gnomAD
WNT6	Q9Y6F9	p.Ala119Gly	rs1239483344	missense variant	-	NC_000002.12:g.218871539C>G	gnomAD
WNT6	Q9Y6F9	p.Ala119Ser	rs1310349406	missense variant	-	NC_000002.12:g.218871538G>T	TOPMed
WNT6	Q9Y6F9	p.Ala119Thr	rs1310349406	missense variant	-	NC_000002.12:g.218871538G>A	TOPMed
WNT6	Q9Y6F9	p.Val120Phe	rs760465554	missense variant	-	NC_000002.12:g.218871541G>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Thr121Lys	rs1422669348	missense variant	-	NC_000002.12:g.218871545C>A	gnomAD
WNT6	Q9Y6F9	p.Cys124Gly	rs766266841	missense variant	-	NC_000002.12:g.218871553T>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ser125Phe	COSM3909614	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218871557C>T	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Ser125Tyr	rs1043210101	missense variant	-	NC_000002.12:g.218871557C>A	TOPMed
WNT6	Q9Y6F9	p.Met126Thr	rs1399409294	missense variant	-	NC_000002.12:g.218871560T>C	gnomAD
WNT6	Q9Y6F9	p.Met126Ile	rs759285421	missense variant	-	NC_000002.12:g.218871561G>C	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Met126Ile	rs759285421	missense variant	-	NC_000002.12:g.218871561G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Met126Val	rs776280458	missense variant	-	NC_000002.12:g.218871559A>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Glu128Gly	rs757934074	missense variant	-	NC_000002.12:g.218871566A>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Glu128Lys	rs752283594	missense variant	-	NC_000002.12:g.218871565G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Leu130Met	COSM73299	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218871571C>A	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Gln131Pro	rs1264151347	missense variant	-	NC_000002.12:g.218871575A>C	gnomAD
WNT6	Q9Y6F9	p.Gly133Val	rs997212826	missense variant	-	NC_000002.12:g.218871581G>T	TOPMed
WNT6	Q9Y6F9	p.Gly133Cys	rs752176348	missense variant	-	NC_000002.12:g.218871580G>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala136Glu	rs757823920	missense variant	-	NC_000002.12:g.218871590C>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala136Val	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218871590C>T	NCI-TCGA
WNT6	Q9Y6F9	p.Pro137Ser	rs781657115	missense variant	-	NC_000002.12:g.218871592C>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg138Cys	rs1029048951	missense variant	-	NC_000002.12:g.218871595C>T	TOPMed
WNT6	Q9Y6F9	p.Gly139Arg	rs1244576079	missense variant	-	NC_000002.12:g.218871598G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly139Trp	rs1244576079	missense variant	-	NC_000002.12:g.218871598G>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg140Gln	rs780086487	missense variant	-	NC_000002.12:g.218871602G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg140Trp	rs1478825467	missense variant	-	NC_000002.12:g.218871601C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala141Ser	rs749380897	missense variant	-	NC_000002.12:g.218871604G>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala141Thr	rs749380897	missense variant	-	NC_000002.12:g.218871604G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Pro142Ser	rs1445154539	missense variant	-	NC_000002.12:g.218871607C>T	gnomAD
WNT6	Q9Y6F9	p.Pro143Ala	rs1463926853	missense variant	-	NC_000002.12:g.218871610C>G	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Pro143Ser	rs1463926853	missense variant	-	NC_000002.12:g.218871610C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg144Pro	rs1316298187	missense variant	-	NC_000002.12:g.218871614G>C	TOPMed
WNT6	Q9Y6F9	p.Arg144Trp	rs1172687654	missense variant	-	NC_000002.12:g.218871613C>T	gnomAD
WNT6	Q9Y6F9	p.Pro145Ser	rs768654253	missense variant	-	NC_000002.12:g.218871616C>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Gly147Asp	rs1266278571	missense variant	-	NC_000002.12:g.218871623G>A	TOPMed
WNT6	Q9Y6F9	p.Leu148Gln	rs757834664	missense variant	-	NC_000002.12:g.218871626T>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly150Arg	rs969854226	missense variant	-	NC_000002.12:g.218871631G>C	TOPMed
WNT6	Q9Y6F9	p.Gly150Ser	rs969854226	missense variant	-	NC_000002.12:g.218871631G>A	TOPMed
WNT6	Q9Y6F9	p.Thr151Pro	rs747009211	missense variant	-	NC_000002.12:g.218871634A>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Thr151Ile	rs375766200	missense variant	-	NC_000002.12:g.218871635C>T	gnomAD
WNT6	Q9Y6F9	p.Pro152Thr	rs770754878	missense variant	-	NC_000002.12:g.218871637C>A	ExAC
WNT6	Q9Y6F9	p.Pro154Thr	rs1223014604	missense variant	-	NC_000002.12:g.218871643C>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Pro154Leu	rs1340294840	missense variant	-	NC_000002.12:g.218871644C>T	gnomAD
WNT6	Q9Y6F9	p.Pro154Ala	rs1223014604	missense variant	-	NC_000002.12:g.218871643C>G	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Pro155Arg	rs141494427	missense variant	-	NC_000002.12:g.218871647C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Pro155Ala	rs1430595816	missense variant	-	NC_000002.12:g.218871646C>G	TOPMed
WNT6	Q9Y6F9	p.Gly156Val	rs759212149	missense variant	-	NC_000002.12:g.218871650G>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Gly156Arg	rs1280629180	missense variant	-	NC_000002.12:g.218871649G>C	gnomAD
WNT6	Q9Y6F9	p.Pro157His	rs769509450	missense variant	-	NC_000002.12:g.218871653C>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Pro157Leu	rs769509450	missense variant	-	NC_000002.12:g.218871653C>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala158Val	rs775227227	missense variant	-	NC_000002.12:g.218871656C>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ser160Thr	rs762558422	missense variant	-	NC_000002.12:g.218871661T>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Pro161Ala	rs763752944	missense variant	-	NC_000002.12:g.218871664C>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Pro161Leu	rs1351823154	missense variant	-	NC_000002.12:g.218871665C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly163Asp	rs375682009	missense variant	-	NC_000002.12:g.218871671G>A	ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ser164Arg	rs1373531426	missense variant	-	NC_000002.12:g.218871675C>A	gnomAD
WNT6	Q9Y6F9	p.Ala165Thr	rs767870771	missense variant	-	NC_000002.12:g.218871676G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala165Pro	rs767870771	missense variant	-	NC_000002.12:g.218871676G>C	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala166Thr	rs371038367	missense variant	-	NC_000002.12:g.218871679G>A	ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala166Ser	rs371038367	missense variant	-	NC_000002.12:g.218871679G>T	ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala166Val	COSM4091542	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218871680C>T	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Trp167Cys	rs780325149	missense variant	-	NC_000002.12:g.218871684G>C	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Trp167Ter	rs780325149	stop gained	-	NC_000002.12:g.218871684G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Glu168Gly	rs1246175923	missense variant	-	NC_000002.12:g.218871686A>G	TOPMed
WNT6	Q9Y6F9	p.Trp169Leu	rs754124545	missense variant	-	NC_000002.12:g.218871689G>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly170Arg	rs746914545	missense variant	-	NC_000002.12:g.218871691G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly170Arg	rs746914545	missense variant	-	NC_000002.12:g.218871691G>C	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly173Ser	rs1242818101	missense variant	-	NC_000002.12:g.218871700G>A	TOPMed
WNT6	Q9Y6F9	p.Gly173Asp	rs1327465741	missense variant	-	NC_000002.12:g.218871701G>A	gnomAD
WNT6	Q9Y6F9	p.Asp174Gly	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218871704A>G	NCI-TCGA
WNT6	Q9Y6F9	p.Asp174Asn	NCI-TCGA novel	missense variant	-	NC_000002.12:g.218871703G>A	NCI-TCGA
WNT6	Q9Y6F9	p.Asp175His	rs770932846	missense variant	-	NC_000002.12:g.218871706G>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Val176Leu	rs1357809521	missense variant	-	NC_000002.12:g.218871709G>T	gnomAD
WNT6	Q9Y6F9	p.Asp177Val	rs1313845014	missense variant	-	NC_000002.12:g.218871713A>T	TOPMed
WNT6	Q9Y6F9	p.Gly179Arg	rs1363628520	missense variant	-	NC_000002.12:g.218871718G>C	TOPMed
WNT6	Q9Y6F9	p.Gly179Glu	rs780946149	missense variant	-	NC_000002.12:g.218871719G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Glu181Lys	rs745692608	missense variant	-	NC_000002.12:g.218871724G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Glu181Gln	rs745692608	missense variant	-	NC_000002.12:g.218871724G>C	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Glu181Gly	rs1487121889	missense variant	-	NC_000002.12:g.218871725A>G	gnomAD
WNT6	Q9Y6F9	p.Ser183Ala	rs1262181701	missense variant	-	NC_000002.12:g.218871730T>G	gnomAD
WNT6	Q9Y6F9	p.Ser183Leu	rs1441690607	missense variant	-	NC_000002.12:g.218871731C>T	gnomAD
WNT6	Q9Y6F9	p.Phe186Cys	rs762741441	missense variant	-	NC_000002.12:g.218871740T>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala189Ser	rs768388767	missense variant	-	NC_000002.12:g.218871748G>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala189Thr	rs768388767	missense variant	-	NC_000002.12:g.218871748G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg190Trp	rs761179896	missense variant	-	NC_000002.12:g.218871751C>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg190Gln	rs768082435	missense variant	-	NC_000002.12:g.218871752G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Lys192Arg	rs928721796	missense variant	-	NC_000002.12:g.218871758A>G	TOPMed
WNT6	Q9Y6F9	p.Arg193Gln	rs371832438	missense variant	-	NC_000002.12:g.218871761G>A	ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg195His	rs766789342	missense variant	-	NC_000002.12:g.218871767G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg195Pro	rs766789342	missense variant	-	NC_000002.12:g.218871767G>C	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly196Arg	rs1208178990	missense variant	-	NC_000002.12:g.218871769G>A	TOPMed
WNT6	Q9Y6F9	p.Arg199Cys	rs149156287	missense variant	-	NC_000002.12:g.218871778C>T	ESP,ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg199Ser	rs149156287	missense variant	-	NC_000002.12:g.218871778C>A	ESP,ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala200Thr	rs1350974775	missense variant	-	NC_000002.12:g.218871781G>A	gnomAD
WNT6	Q9Y6F9	p.Ala200Ser	rs1350974775	missense variant	-	NC_000002.12:g.218871781G>T	gnomAD
WNT6	Q9Y6F9	p.Leu201Trp	rs1261019580	missense variant	-	NC_000002.12:g.218871785T>G	gnomAD
WNT6	Q9Y6F9	p.Val202Leu	rs752801056	missense variant	-	NC_000002.12:g.218871787G>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Asn207Ser	rs758355759	missense variant	-	NC_000002.12:g.218871803A>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala209Thr	rs781196612	missense variant	-	NC_000002.12:g.218871808G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Gly210Ser	rs1237660450	missense variant	-	NC_000002.12:g.218871811G>A	gnomAD
WNT6	Q9Y6F9	p.Val214Met	rs758645392	missense variant	-	NC_000002.12:g.218873387G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg215Gln	rs1344178652	missense variant	-	NC_000002.12:g.218873391G>A	TOPMed
WNT6	Q9Y6F9	p.Arg215Trp	rs542982949	missense variant	-	NC_000002.12:g.218873390C>T	1000Genomes,gnomAD
WNT6	Q9Y6F9	p.Ser216Asn	rs1490609771	missense variant	-	NC_000002.12:g.218873394G>A	gnomAD
WNT6	Q9Y6F9	p.Glu221Lys	rs1422060201	missense variant	-	NC_000002.12:g.218873408G>A	gnomAD
WNT6	Q9Y6F9	p.Cys224Ser	rs1170468518	missense variant	-	NC_000002.12:g.218873417T>A	gnomAD
WNT6	Q9Y6F9	p.Cys224Tyr	rs1367367634	missense variant	-	NC_000002.12:g.218873418G>A	gnomAD
WNT6	Q9Y6F9	p.Gly226Arg	rs1455994673	missense variant	-	NC_000002.12:g.218873423G>A	gnomAD
WNT6	Q9Y6F9	p.Gly226Trp	rs1455994673	missense variant	-	NC_000002.12:g.218873423G>T	gnomAD
WNT6	Q9Y6F9	p.Cys231Ter	rs935852608	stop gained	-	NC_000002.12:g.218873440C>A	TOPMed
WNT6	Q9Y6F9	p.Ala232Thr	rs1052853628	missense variant	-	NC_000002.12:g.218873441G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala232Val	rs1296116840	missense variant	-	NC_000002.12:g.218873442C>T	gnomAD
WNT6	Q9Y6F9	p.Ala232Gly	rs1296116840	missense variant	-	NC_000002.12:g.218873442C>G	gnomAD
WNT6	Q9Y6F9	p.Arg234Ser	rs533712317	missense variant	-	NC_000002.12:g.218873447C>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg234His	rs1051611538	missense variant	-	NC_000002.12:g.218873448G>A	TOPMed
WNT6	Q9Y6F9	p.Trp237Ter	rs1312001134	stop gained	-	NC_000002.12:g.218873457G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gln238Pro	rs933076369	missense variant	-	NC_000002.12:g.218873460A>C	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gln238Arg	rs933076369	missense variant	-	NC_000002.12:g.218873460A>G	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gln238Ter	rs1321166448	stop gained	-	NC_000002.12:g.218873459C>T	gnomAD
WNT6	Q9Y6F9	p.Arg244His	rs1490584103	missense variant	-	NC_000002.12:g.218873478G>A	gnomAD
WNT6	Q9Y6F9	p.Glu245Lys	rs1317949387	missense variant	-	NC_000002.12:g.218873480G>A	TOPMed
WNT6	Q9Y6F9	p.Val246Ala	rs1289576821	missense variant	-	NC_000002.12:g.218873484T>C	TOPMed
WNT6	Q9Y6F9	p.Gly247Asp	rs1261502638	missense variant	-	NC_000002.12:g.218873487G>A	gnomAD
WNT6	Q9Y6F9	p.Arg249Gln	rs1187613828	missense variant	-	NC_000002.12:g.218873493G>A	gnomAD
WNT6	Q9Y6F9	p.Leu251Pro	rs1256125666	missense variant	-	NC_000002.12:g.218873499T>C	gnomAD
WNT6	Q9Y6F9	p.Glu252Gln	rs1362160477	missense variant	-	NC_000002.12:g.218873501G>C	TOPMed
WNT6	Q9Y6F9	p.Glu252Gly	rs1007289265	missense variant	-	NC_000002.12:g.218873502A>G	TOPMed
WNT6	Q9Y6F9	p.Arg253Pro	rs1164962396	missense variant	-	NC_000002.12:g.218873505G>C	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg253Leu	rs1164962396	missense variant	-	NC_000002.12:g.218873505G>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.His255Tyr	rs1385396012	missense variant	-	NC_000002.12:g.218873510C>T	gnomAD
WNT6	Q9Y6F9	p.Gly256Cys	rs1418728580	missense variant	-	NC_000002.12:g.218873513G>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly256Ser	rs1418728580	missense variant	-	NC_000002.12:g.218873513G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly256Val	rs1156519656	missense variant	-	NC_000002.12:g.218873514G>T	gnomAD
WNT6	Q9Y6F9	p.Ala257Ser	rs1346740666	missense variant	-	NC_000002.12:g.218873516G>T	gnomAD
WNT6	Q9Y6F9	p.Arg259His	rs1302171406	missense variant	-	NC_000002.12:g.218873523G>A	gnomAD
WNT6	Q9Y6F9	p.Arg259Gly	rs1017221529	missense variant	-	NC_000002.12:g.218873522C>G	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Val260Ile	rs994352872	missense variant	-	NC_000002.12:g.218873525G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Met261Leu	rs1317262363	missense variant	-	NC_000002.12:g.218873528A>C	gnomAD
WNT6	Q9Y6F9	p.Gly262Asp	rs1239684208	missense variant	-	NC_000002.12:g.218873532G>A	gnomAD
WNT6	Q9Y6F9	p.Gly262Ser	rs1360372895	missense variant	-	NC_000002.12:g.218873531G>A	gnomAD
WNT6	Q9Y6F9	p.Thr263Ser	rs1319077270	missense variant	-	NC_000002.12:g.218873535C>G	gnomAD
WNT6	Q9Y6F9	p.Asp265Asn	rs1255878884	missense variant	-	NC_000002.12:g.218873540G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Asp265His	rs1255878884	missense variant	-	NC_000002.12:g.218873540G>C	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly266Ser	rs1482563216	missense variant	-	NC_000002.12:g.218873543G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly266Arg	rs1482563216	missense variant	-	NC_000002.12:g.218873543G>C	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Lys267Arg	rs889980241	missense variant	-	NC_000002.12:g.218873547A>G	TOPMed
WNT6	Q9Y6F9	p.Ala268Val	rs1243203754	missense variant	-	NC_000002.12:g.218873550C>T	gnomAD
WNT6	Q9Y6F9	p.Ala268Thr	rs767256680	missense variant	-	NC_000002.12:g.218873549G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala268Pro	rs767256680	missense variant	-	NC_000002.12:g.218873549G>C	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Leu270Val	rs778846147	missense variant	-	NC_000002.12:g.218873555C>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Pro271Ser	rs560783536	missense variant	-	NC_000002.12:g.218873558C>T	1000Genomes,ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala272Ser	rs771736077	missense variant	-	NC_000002.12:g.218873561G>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg274His	rs1486294656	missense variant	-	NC_000002.12:g.218873568G>A	TOPMed
WNT6	Q9Y6F9	p.Thr275Met	rs1357292601	missense variant	-	NC_000002.12:g.218873571C>T	gnomAD
WNT6	Q9Y6F9	p.Pro278Leu	rs1337379664	missense variant	-	NC_000002.12:g.218873580C>T	gnomAD
WNT6	Q9Y6F9	p.Pro279Leu	rs1383614639	missense variant	-	NC_000002.12:g.218873583C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Pro279Gln	rs1383614639	missense variant	-	NC_000002.12:g.218873583C>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly280Asp	rs567728114	missense variant	-	NC_000002.12:g.218873586G>A	1000Genomes,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg281Gln	rs759901601	missense variant	-	NC_000002.12:g.218873589G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg281Leu	rs759901601	missense variant	-	NC_000002.12:g.218873589G>T	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala282Val	rs775911870	missense variant	-	NC_000002.12:g.218873592C>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Leu284Phe	rs763122265	missense variant	-	NC_000002.12:g.218873597C>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Leu285Phe	rs1456913037	missense variant	-	NC_000002.12:g.218873600C>T	gnomAD
WNT6	Q9Y6F9	p.Leu285Ile	rs1456913037	missense variant	-	NC_000002.12:g.218873600C>A	gnomAD
WNT6	Q9Y6F9	p.Ala287Thr	rs1234218918	missense variant	-	NC_000002.12:g.218873606G>A	gnomAD
WNT6	Q9Y6F9	p.Ala287Val	rs1408841347	missense variant	-	NC_000002.12:g.218873607C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ala288Thr	rs751610006	missense variant	-	NC_000002.12:g.218873609G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala288Ser	rs751610006	missense variant	-	NC_000002.12:g.218873609G>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ser290Leu	rs1422789669	missense variant	-	NC_000002.12:g.218873616C>T	gnomAD
WNT6	Q9Y6F9	p.Pro291Arg	rs935885236	missense variant	-	NC_000002.12:g.218873619C>G	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Asp292Tyr	rs753892359	missense variant	-	NC_000002.12:g.218873621G>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala295Ser	rs754951141	missense variant	-	NC_000002.12:g.218873630G>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ala295Val	rs1356434597	missense variant	-	NC_000002.12:g.218873631C>T	gnomAD
WNT6	Q9Y6F9	p.Ala295Thr	rs754951141	missense variant	-	NC_000002.12:g.218873630G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Pro296Ser	rs1443183664	missense variant	-	NC_000002.12:g.218873633C>T	gnomAD
WNT6	Q9Y6F9	p.Asn297Thr	rs778620463	missense variant	-	NC_000002.12:g.218873637A>C	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Asn297Ser	rs778620463	missense variant	-	NC_000002.12:g.218873637A>G	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg298Ter	rs758018720	stop gained	-	NC_000002.12:g.218873639C>T	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg298Gln	rs777435419	missense variant	-	NC_000002.12:g.218873640G>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg299Cys	rs1317873348	missense variant	-	NC_000002.12:g.218873642C>T	gnomAD
WNT6	Q9Y6F9	p.Arg299Ser	rs1317873348	missense variant	-	NC_000002.12:g.218873642C>A	gnomAD
WNT6	Q9Y6F9	p.Arg299His	rs1212230501	missense variant	-	NC_000002.12:g.218873643G>A	gnomAD
WNT6	Q9Y6F9	p.Gly301Ser	rs1274520165	missense variant	-	NC_000002.12:g.218873648G>A	gnomAD
WNT6	Q9Y6F9	p.Gly301Cys	rs1274520165	missense variant	-	NC_000002.12:g.218873648G>T	gnomAD
WNT6	Q9Y6F9	p.Ser302Phe	COSM3909615	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218873652C>T	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Pro303Ala	rs771206925	missense variant	-	NC_000002.12:g.218873654C>G	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Thr305Met	rs1199916860	missense variant	-	NC_000002.12:g.218873661C>T	gnomAD
WNT6	Q9Y6F9	p.Arg306Cys	rs1034394582	missense variant	-	NC_000002.12:g.218873663C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg306Gly	rs1034394582	missense variant	-	NC_000002.12:g.218873663C>G	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly307Ala	rs1481656337	missense variant	-	NC_000002.12:g.218873667G>C	TOPMed
WNT6	Q9Y6F9	p.Gly307Ser	COSM26563	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218873666G>A	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Arg308His	rs745952229	missense variant	-	NC_000002.12:g.218873670G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg308Cys	rs1421733507	missense variant	-	NC_000002.12:g.218873669C>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg308Ser	rs1421733507	missense variant	-	NC_000002.12:g.218873669C>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Asn311Ser	rs1323115870	missense variant	-	NC_000002.12:g.218873679A>G	gnomAD
WNT6	Q9Y6F9	p.Ser312Asn	rs746435150	missense variant	-	NC_000002.12:g.218873682G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Ser312Arg	rs770265789	missense variant	-	NC_000002.12:g.218873683C>A	ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Ser313Thr	rs1340393231	missense variant	-	NC_000002.12:g.218873685G>C	gnomAD
WNT6	Q9Y6F9	p.Ala314Asp	rs1429223480	missense variant	-	NC_000002.12:g.218873688C>A	gnomAD
WNT6	Q9Y6F9	p.Ala314Ser	rs1249134400	missense variant	-	NC_000002.12:g.218873687G>T	TOPMed
WNT6	Q9Y6F9	p.Gly319Asp	rs1276802842	missense variant	-	NC_000002.12:g.218873703G>A	gnomAD
WNT6	Q9Y6F9	p.Cys320Arg	rs1227293965	missense variant	-	NC_000002.12:g.218873705T>C	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Cys324Tyr	rs1361151666	missense variant	-	NC_000002.12:g.218873718G>A	gnomAD
WNT6	Q9Y6F9	p.Cys325Trp	rs768769875	missense variant	-	NC_000002.12:g.218873722C>G	ExAC,gnomAD
WNT6	Q9Y6F9	p.Gly326Ser	rs1262183703	missense variant	-	NC_000002.12:g.218873723G>A	gnomAD
WNT6	Q9Y6F9	p.Gly328Trp	rs1195199650	missense variant	-	NC_000002.12:g.218873729G>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Gly328Glu	rs774566053	missense variant	-	NC_000002.12:g.218873730G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Gly328Arg	rs1195199650	missense variant	-	NC_000002.12:g.218873729G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg330His	rs189995485	missense variant	-	NC_000002.12:g.218873736G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
WNT6	Q9Y6F9	p.Arg330Ser	rs1345871655	missense variant	-	NC_000002.12:g.218873735C>A	gnomAD
WNT6	Q9Y6F9	p.Glu332Lys	rs1426803969	missense variant	-	NC_000002.12:g.218873741G>A	gnomAD
WNT6	Q9Y6F9	p.Ser333Asn	rs767762590	missense variant	-	NC_000002.12:g.218873745G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Val334Met	rs750505957	missense variant	-	NC_000002.12:g.218873747G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Glu337Gln	rs759589107	missense variant	-	NC_000002.12:g.218873756G>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Glu338Asp	rs1446556962	missense variant	-	NC_000002.12:g.218873761G>C	gnomAD
WNT6	Q9Y6F9	p.Glu338Lys	rs914366914	missense variant	-	NC_000002.12:g.218873759G>A	gnomAD
WNT6	Q9Y6F9	p.Glu338Gln	COSM1306439	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218873759G>C	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Cys340Ter	rs1390772760	stop gained	-	NC_000002.12:g.218873767C>A	TOPMed
WNT6	Q9Y6F9	p.Cys340Tyr	rs1312291344	missense variant	-	NC_000002.12:g.218873766G>A	gnomAD
WNT6	Q9Y6F9	p.Arg343Ser	rs1246249807	missense variant	-	NC_000002.12:g.218873774C>A	gnomAD
WNT6	Q9Y6F9	p.Arg343Cys	rs1246249807	missense variant	-	NC_000002.12:g.218873774C>T	gnomAD
WNT6	Q9Y6F9	p.Arg343Leu	rs1284914451	missense variant	-	NC_000002.12:g.218873775G>T	gnomAD
WNT6	Q9Y6F9	p.Phe344Leu	rs1206695898	missense variant	-	NC_000002.12:g.218873777T>C	gnomAD
WNT6	Q9Y6F9	p.His345Arg	rs1038351907	missense variant	-	NC_000002.12:g.218873781A>G	TOPMed
WNT6	Q9Y6F9	p.Val349Ile	rs977335454	missense variant	-	NC_000002.12:g.218873792G>A	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Val349Leu	rs977335454	missense variant	-	NC_000002.12:g.218873792G>T	TOPMed,gnomAD
WNT6	Q9Y6F9	p.Val350Ala	rs1174611058	missense variant	-	NC_000002.12:g.218873796T>C	TOPMed
WNT6	Q9Y6F9	p.Gln351Arg	rs1471058472	missense variant	-	NC_000002.12:g.218873799A>G	TOPMed
WNT6	Q9Y6F9	p.Gln351His	rs752458659	missense variant	-	NC_000002.12:g.218873800G>C	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg356His	rs758154086	missense variant	-	NC_000002.12:g.218873814G>A	ExAC,gnomAD
WNT6	Q9Y6F9	p.Arg356Cys	COSM73300	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218873813C>T	NCI-TCGA Cosmic
WNT6	Q9Y6F9	p.Arg358Leu	rs1446593576	missense variant	-	NC_000002.12:g.218873820G>T	gnomAD
WNT6	Q9Y6F9	p.Leu361Phe	rs548768289	missense variant	-	NC_000002.12:g.218873828C>T	gnomAD
WNT6	Q9Y6F9	p.Leu363Phe	rs1363491561	missense variant	-	NC_000002.12:g.218873834C>T	gnomAD
WNT6	Q9Y6F9	p.Cys364Arg	rs1452023449	missense variant	-	NC_000002.12:g.218873837T>C	gnomAD
MORC2	Q9Y6X9	p.Ala2Val	rs958734314	missense variant	-	NC_000022.11:g.30967885G>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala2Gly	rs958734314	missense variant	-	NC_000022.11:g.30967885G>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr4Ala	rs1273255920	missense variant	-	NC_000022.11:g.30967880T>C	TOPMed
MORC2	Q9Y6X9	p.Tyr6His	rs1467310640	missense variant	-	NC_000022.11:g.30967874A>G	gnomAD
MORC2	Q9Y6X9	p.Ser7Gly	rs1213563782	missense variant	-	NC_000022.11:g.30967871T>C	TOPMed
MORC2	Q9Y6X9	p.Asn10Ile	rs1243735560	missense variant	-	NC_000022.11:g.30967861T>A	TOPMed
MORC2	Q9Y6X9	p.Arg11Gln	rs1034098965	missense variant	-	NC_000022.11:g.30967858C>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala12Gly	rs1386472984	missense variant	-	NC_000022.11:g.30967855G>C	gnomAD
MORC2	Q9Y6X9	p.Gln13Ter	rs769126155	stop gained	-	NC_000022.11:g.30967853G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Thr15Ser	rs1181048709	missense variant	-	NC_000022.11:g.30967847T>A	TOPMed
MORC2	Q9Y6X9	p.Glu17Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30967841C>G	NCI-TCGA
MORC2	Q9Y6X9	p.Glu27Lys	COSM4840492	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30958684C>T	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Phe30Leu	rs1204561176	missense variant	-	NC_000022.11:g.30958675A>G	gnomAD
MORC2	Q9Y6X9	p.Ala32Thr	rs964012011	missense variant	-	NC_000022.11:g.30958669C>T	gnomAD
MORC2	Q9Y6X9	p.Ala32Ser	rs964012011	missense variant	-	NC_000022.11:g.30958669C>A	gnomAD
MORC2	Q9Y6X9	p.Val37Phe	rs1368333018	missense variant	-	NC_000022.11:g.30958654C>A	gnomAD
MORC2	Q9Y6X9	p.Arg47Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30956780C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Asp49Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30956775C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Ile50Phe	rs1369209707	missense variant	-	NC_000022.11:g.30956772T>A	gnomAD
MORC2	Q9Y6X9	p.Arg55Gln	rs574524678	missense variant	-	NC_000022.11:g.30950439C>T	1000Genomes,ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu56Asp	rs1452151243	missense variant	-	NC_000022.11:g.30950435C>G	gnomAD
MORC2	Q9Y6X9	p.Leu58Val	rs760345377	missense variant	-	NC_000022.11:g.30950431G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg59Ter	rs1202793669	stop gained	-	NC_000022.11:g.30950428G>A	gnomAD
MORC2	Q9Y6X9	p.Arg59Gln	rs781481050	missense variant	-	NC_000022.11:g.30950427C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Gly61Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30950421C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Met63Leu	rs748092969	missense variant	-	NC_000022.11:g.30950416T>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Met63Val	rs748092969	missense variant	-	NC_000022.11:g.30950416T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Gly70Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30950394C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Asp74Gly	RCV000530209	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30950382T>C	ClinVar
MORC2	Q9Y6X9	p.Asp74Gly	rs1555942389	missense variant	-	NC_000022.11:g.30950382T>C	-
MORC2	Q9Y6X9	p.Asp74Tyr	rs768530375	missense variant	-	NC_000022.11:g.30950383C>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro75Ser	rs898196410	missense variant	-	NC_000022.11:g.30950380G>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser76Asn	rs762809030	missense variant	-	NC_000022.11:g.30949842C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala78Val	rs775429252	missense variant	-	NC_000022.11:g.30949836G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser80Gly	rs376351739	missense variant	-	NC_000022.11:g.30949831T>C	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val81Leu	rs1377160735	missense variant	-	NC_000022.11:g.30949828C>A	gnomAD
MORC2	Q9Y6X9	p.Ile82Val	rs1286183996	missense variant	-	NC_000022.11:g.30949825T>C	gnomAD
MORC2	Q9Y6X9	p.Gln83Ter	COSM4860473	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30949822G>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Lys86Asn	RCV000652685	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30949811C>G	ClinVar
MORC2	Q9Y6X9	p.Lys86Asn	rs150980372	missense variant	-	NC_000022.11:g.30949811C>G	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser87Leu	RCV000522454	missense variant	-	NC_000022.11:g.30949809G>A	ClinVar
MORC2	Q9Y6X9	p.Ser87Leu	RCV000202460	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30949809G>A	ClinVar
MORC2	Q9Y6X9	p.Ser87Leu	rs864309504	missense variant	Charcot-Marie-Tooth disease 2Z (CMT2Z)	NC_000022.11:g.30949809G>A	UniProt,dbSNP
MORC2	Q9Y6X9	p.Ser87Leu	VAR_076454	missense variant	Charcot-Marie-Tooth disease 2Z (CMT2Z)	NC_000022.11:g.30949809G>A	UniProt
MORC2	Q9Y6X9	p.Ser87Leu	rs864309504	missense variant	-	NC_000022.11:g.30949809G>A	-
MORC2	Q9Y6X9	p.Lys89Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30949803T>C	NCI-TCGA
MORC2	Q9Y6X9	p.Arg90Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30949800C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Arg90Ter	rs374633215	stop gained	-	NC_000022.11:g.30949801G>A	gnomAD
MORC2	Q9Y6X9	p.Thr95Pro	COSM3992097	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30949786T>G	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Gln96Glu	RCV000658937	missense variant	-	NC_000022.11:g.30949783G>C	ClinVar
MORC2	Q9Y6X9	p.Gln96Glu	rs749060708	missense variant	-	NC_000022.11:g.30949783G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Gln99Leu	COSM3553456	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30949773T>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Ser106Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30949752G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Met109Thr	rs1165276920	missense variant	-	NC_000022.11:g.30946441A>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Met109Val	rs141387374	missense variant	-	NC_000022.11:g.30946442T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg110His	rs980180430	missense variant	-	NC_000022.11:g.30946438C>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg110Leu	rs980180430	missense variant	-	NC_000022.11:g.30946438C>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Lys113Asn	rs1169862798	missense variant	-	NC_000022.11:g.30946428C>G	gnomAD
MORC2	Q9Y6X9	p.Ile116Val	rs747210413	missense variant	-	NC_000022.11:g.30946421T>C	ExAC
MORC2	Q9Y6X9	p.Leu117Val	rs542809980	missense variant	-	NC_000022.11:g.30946418G>C	1000Genomes,ExAC,gnomAD
MORC2	Q9Y6X9	p.Thr119Ala	RCV000652681	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30946412T>C	ClinVar
MORC2	Q9Y6X9	p.Thr119Ala	rs748216749	missense variant	-	NC_000022.11:g.30946412T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Met125Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30946393A>G	NCI-TCGA
MORC2	Q9Y6X9	p.Met125Ile	rs199669947	missense variant	-	NC_000022.11:g.30946392C>G	TOPMed
MORC2	Q9Y6X9	p.Thr126Ala	rs1223721150	missense variant	-	NC_000022.11:g.30946391T>C	gnomAD
MORC2	Q9Y6X9	p.Thr126Ile	rs755523808	missense variant	-	NC_000022.11:g.30946390G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Thr126Pro	rs1223721150	missense variant	-	NC_000022.11:g.30946391T>G	gnomAD
MORC2	Q9Y6X9	p.Phe129Ser	rs751196420	missense variant	-	NC_000022.11:g.30946381A>G	ExAC,gnomAD
MORC2	Q9Y6X9	p.Leu130Val	rs757957309	missense variant	-	NC_000022.11:g.30946379G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg132His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30946372C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Arg132Cys	rs1064795559	missense variant	-	NC_000022.11:g.30946373G>A	-
MORC2	Q9Y6X9	p.Arg132Cys	RCV000480527	missense variant	-	NC_000022.11:g.30946373G>A	ClinVar
MORC2	Q9Y6X9	p.Thr133Met	rs553943877	missense variant	-	NC_000022.11:g.30946369G>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr133Lys	rs553943877	missense variant	-	NC_000022.11:g.30946369G>T	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Phe134Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30946366A>C	NCI-TCGA
MORC2	Q9Y6X9	p.His135Gln	rs144582460	missense variant	-	NC_000022.11:g.30946362A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile140Val	rs1376548988	missense variant	-	NC_000022.11:g.30946349T>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile144Thr	rs563571840	missense variant	-	NC_000022.11:g.30942267A>G	1000Genomes,ExAC,gnomAD
MORC2	Q9Y6X9	p.Val145Ile	COSM1033343	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30942265C>T	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Pro146Leu	rs1319960845	missense variant	-	NC_000022.11:g.30942261G>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro148Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30942256G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Thr149Ile	rs1419852601	missense variant	-	NC_000022.11:g.30942252G>A	gnomAD
MORC2	Q9Y6X9	p.Asn151Ile	COSM3553454	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30942246T>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Ala152Gly	rs1255740355	missense variant	-	NC_000022.11:g.30942243G>C	gnomAD
MORC2	Q9Y6X9	p.Arg153Trp	rs774502307	missense variant	-	NC_000022.11:g.30942241G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg153Gln	rs768748502	missense variant	-	NC_000022.11:g.30942240C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Thr154Ile	rs1290294192	missense variant	-	NC_000022.11:g.30942237G>A	TOPMed
MORC2	Q9Y6X9	p.Arg155Trp	rs775518683	missense variant	-	NC_000022.11:g.30942235G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg155Gln	rs770383175	missense variant	-	NC_000022.11:g.30942234C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu156Gln	rs746347871	missense variant	-	NC_000022.11:g.30942232C>G	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro157Leu	COSM3553452	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30942228G>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Pro157Arg	rs370868047	missense variant	-	NC_000022.11:g.30942228G>C	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Asp160Glu	rs771133022	missense variant	-	NC_000022.11:g.30942218G>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Asn161His	rs1316437948	missense variant	-	NC_000022.11:g.30942217T>G	TOPMed
MORC2	Q9Y6X9	p.Val162Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30942213A>G	NCI-TCGA
MORC2	Q9Y6X9	p.Glu163Asp	RCV000556140	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30942209C>A	ClinVar
MORC2	Q9Y6X9	p.Glu163Asp	rs186458188	missense variant	-	NC_000022.11:g.30942209C>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu163Asp	rs186458188	missense variant	-	NC_000022.11:g.30942209C>G	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Phe165Tyr	rs1382883492	missense variant	-	NC_000022.11:g.30942204A>T	gnomAD
MORC2	Q9Y6X9	p.Ile167Ser	rs906292521	missense variant	-	NC_000022.11:g.30942198A>C	TOPMed
MORC2	Q9Y6X9	p.Glu168Gly	rs1319360253	missense variant	-	NC_000022.11:g.30942195T>C	gnomAD
MORC2	Q9Y6X9	p.Thr169Arg	rs1024657020	missense variant	-	NC_000022.11:g.30942192G>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu170Gly	rs1457131129	missense variant	-	NC_000022.11:g.30942189T>C	gnomAD
MORC2	Q9Y6X9	p.Tyr173Ser	rs144248516	missense variant	-	NC_000022.11:g.30942180T>G	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro177Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30942169G>C	NCI-TCGA
MORC2	Q9Y6X9	p.Arg179His	RCV000652686	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30942162C>T	ClinVar
MORC2	Q9Y6X9	p.Arg179His	rs541114863	missense variant	-	NC_000022.11:g.30942162C>T	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg179Cys	rs1368311291	missense variant	-	NC_000022.11:g.30942163G>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr180Ile	rs1344522060	missense variant	-	NC_000022.11:g.30942159G>A	TOPMed
MORC2	Q9Y6X9	p.Glu181Lys	rs750265510	missense variant	-	NC_000022.11:g.30942157C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu181Asp	rs1188036088	missense variant	-	NC_000022.11:g.30942155C>A	gnomAD
MORC2	Q9Y6X9	p.Glu183Asp	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30942149T>G	NCI-TCGA
MORC2	Q9Y6X9	p.Glu183Lys	rs892112351	missense variant	-	NC_000022.11:g.30942151C>T	TOPMed
MORC2	Q9Y6X9	p.Thr186Ile	rs1463459057	missense variant	-	NC_000022.11:g.30942141G>A	gnomAD
MORC2	Q9Y6X9	p.Phe188Ile	rs1360752364	missense variant	-	NC_000022.11:g.30942136A>T	TOPMed
MORC2	Q9Y6X9	p.Met189Thr	RCV000652676	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30942132A>G	ClinVar
MORC2	Q9Y6X9	p.Met189Thr	rs1555940315	missense variant	-	NC_000022.11:g.30942132A>G	-
MORC2	Q9Y6X9	p.Met189Ile	rs767362421	missense variant	-	NC_000022.11:g.30942131C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Met189Val	rs1205445337	missense variant	-	NC_000022.11:g.30942133T>C	gnomAD
MORC2	Q9Y6X9	p.Lys190Asn	COSM444879	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30942128C>G	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Pro192Ser	rs1246495857	missense variant	-	NC_000022.11:g.30942124G>A	gnomAD
MORC2	Q9Y6X9	p.Ser195Gly	rs1359737661	missense variant	-	NC_000022.11:g.30942115T>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Gly196GluPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.30942002C>-	NCI-TCGA
MORC2	Q9Y6X9	p.Val199Met	rs752850286	missense variant	-	NC_000022.11:g.30941994C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ile200Val	rs765371898	missense variant	-	NC_000022.11:g.30941991T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Asn203Ser	rs369472062	missense variant	-	NC_000022.11:g.30941981T>C	ESP,ExAC,gnomAD
MORC2	Q9Y6X9	p.Met207Val	rs777224974	missense variant	-	NC_000022.11:g.30941970T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Asp208Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30941967C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Asn209Ser	RCV000544977	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30941963T>C	ClinVar
MORC2	Q9Y6X9	p.Asn209Ser	rs76273991	missense variant	-	NC_000022.11:g.30941963T>C	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu211Asp	rs1049739010	missense variant	-	NC_000022.11:g.30941956C>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile216Thr	COSM2937583	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30941942A>G	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Ile217Leu	rs375266158	missense variant	-	NC_000022.11:g.30941940T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile217Met	rs1250884654	missense variant	-	NC_000022.11:g.30941938G>C	gnomAD
MORC2	Q9Y6X9	p.Ile217Val	rs375266158	missense variant	-	NC_000022.11:g.30941940T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg221Gly	rs1202548308	missense variant	-	NC_000022.11:g.30941928T>C	gnomAD
MORC2	Q9Y6X9	p.Asp222Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30941925C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Asp222Val	rs748966530	missense variant	-	NC_000022.11:g.30941924T>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala226Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30941912G>T	NCI-TCGA
MORC2	Q9Y6X9	p.Glu227Asp	rs1273034005	missense variant	-	NC_000022.11:g.30941908C>A	gnomAD
MORC2	Q9Y6X9	p.Thr228Met	rs774960940	missense variant	-	NC_000022.11:g.30941906G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser229Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30941903G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Pro230Ser	rs1273596532	missense variant	-	NC_000022.11:g.30941901G>A	gnomAD
MORC2	Q9Y6X9	p.Lys234Arg	rs768020550	missense variant	-	NC_000022.11:g.30941556T>C	ExAC
MORC2	Q9Y6X9	p.Glu236Gly	RCV000240855	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30941550T>C	ClinVar
MORC2	Q9Y6X9	p.Glu236Gln	rs1032069292	missense variant	-	NC_000022.11:g.30941551C>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu236Gly	rs886037934	missense variant	-	NC_000022.11:g.30941550T>C	-
MORC2	Q9Y6X9	p.Glu236Gly	rs886037934	missense variant	Charcot-Marie-Tooth disease 2Z (CMT2Z)	NC_000022.11:g.30941550T>C	UniProt,dbSNP
MORC2	Q9Y6X9	p.Glu236Gly	VAR_076456	missense variant	Charcot-Marie-Tooth disease 2Z (CMT2Z)	NC_000022.11:g.30941550T>C	UniProt
MORC2	Q9Y6X9	p.Arg237Gln	rs1338741504	missense variant	-	NC_000022.11:g.30941547C>T	gnomAD
MORC2	Q9Y6X9	p.Arg237Trp	rs762233089	missense variant	-	NC_000022.11:g.30941548G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg238His	RCV000652678	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30941544C>T	ClinVar
MORC2	Q9Y6X9	p.Arg238Cys	RCV000624421	missense variant	Inborn genetic diseases	NC_000022.11:g.30941545G>A	ClinVar
MORC2	Q9Y6X9	p.Arg238Ser	rs371713427	missense variant	-	NC_000022.11:g.30941545G>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg238Leu	rs367766290	missense variant	-	NC_000022.11:g.30941544C>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg238His	rs367766290	missense variant	-	NC_000022.11:g.30941544C>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg238Cys	RCV000706478	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30941545G>A	ClinVar
MORC2	Q9Y6X9	p.Arg238Cys	rs371713427	missense variant	-	NC_000022.11:g.30941545G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser239Leu	rs1387852860	missense variant	-	NC_000022.11:g.30941541G>A	gnomAD
MORC2	Q9Y6X9	p.Phe240Leu	rs770361627	missense variant	-	NC_000022.11:g.30941537G>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg241His	rs930399394	missense variant	-	NC_000022.11:g.30941535C>T	gnomAD
MORC2	Q9Y6X9	p.Ala242Ser	rs1412806730	missense variant	-	NC_000022.11:g.30941533C>A	TOPMed
MORC2	Q9Y6X9	p.Tyr243Cys	rs562392125	missense variant	-	NC_000022.11:g.30941529T>C	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala245Thr	rs771884588	missense variant	-	NC_000022.11:g.30941524C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Tyr248Cys	rs1355363942	missense variant	-	NC_000022.11:g.30941514T>C	UniProt,dbSNP
MORC2	Q9Y6X9	p.Tyr248Cys	VAR_076457	missense variant	-	NC_000022.11:g.30941514T>C	UniProt
MORC2	Q9Y6X9	p.Tyr248Cys	rs1355363942	missense variant	-	NC_000022.11:g.30941514T>C	TOPMed
MORC2	Q9Y6X9	p.Asp250Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30941509C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Arg252Trp	RCV000202547	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30941503G>A	ClinVar
MORC2	Q9Y6X9	p.Arg252Trp	RCV000624201	missense variant	Inborn genetic diseases	NC_000022.11:g.30941503G>A	ClinVar
MORC2	Q9Y6X9	p.Arg252Trp	rs864309503	missense variant	-	NC_000022.11:g.30941503G>A	-
MORC2	Q9Y6X9	p.Arg252Trp	rs864309503	missense variant	Charcot-Marie-Tooth disease 2Z (CMT2Z)	NC_000022.11:g.30941503G>A	UniProt,dbSNP
MORC2	Q9Y6X9	p.Arg252Trp	VAR_076458	missense variant	Charcot-Marie-Tooth disease 2Z (CMT2Z)	NC_000022.11:g.30941503G>A	UniProt
MORC2	Q9Y6X9	p.Met253Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30941498C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Met253Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30941498C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Phe256Val	rs1462125201	missense variant	-	NC_000022.11:g.30941491A>C	gnomAD
MORC2	Q9Y6X9	p.Gly259Glu	rs368260550	missense variant	-	NC_000022.11:g.30941481C>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Gly259Glu	RCV000652675	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30941481C>T	ClinVar
MORC2	Q9Y6X9	p.His260Tyr	rs755209985	missense variant	-	NC_000022.11:g.30941479G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Val262Met	rs1258894762	missense variant	-	NC_000022.11:g.30941473C>T	TOPMed
MORC2	Q9Y6X9	p.Arg266Ser	rs1064796495	missense variant	-	NC_000022.11:g.30941459C>G	-
MORC2	Q9Y6X9	p.Arg266Ser	RCV000479173	missense variant	-	NC_000022.11:g.30941459C>G	ClinVar
MORC2	Q9Y6X9	p.Leu267Arg	RCV000652688	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30941457A>C	ClinVar
MORC2	Q9Y6X9	p.Leu267Arg	rs1555939986	missense variant	-	NC_000022.11:g.30941457A>C	-
MORC2	Q9Y6X9	p.Ser268Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30941454G>C	NCI-TCGA
MORC2	Q9Y6X9	p.Ser268Phe	rs756217725	missense variant	-	NC_000022.11:g.30941454G>A	ExAC
MORC2	Q9Y6X9	p.Tyr272Phe	rs987083509	missense variant	-	NC_000022.11:g.30941442T>A	gnomAD
MORC2	Q9Y6X9	p.Tyr272Phe	RCV000652684	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30941442T>A	ClinVar
MORC2	Q9Y6X9	p.Pro274Leu	rs1345535484	missense variant	-	NC_000022.11:g.30941436G>A	gnomAD
MORC2	Q9Y6X9	p.Pro274Ser	rs1432892101	missense variant	-	NC_000022.11:g.30941437G>A	gnomAD
MORC2	Q9Y6X9	p.Met276Ile	rs1235679626	missense variant	-	NC_000022.11:g.30940834C>T	TOPMed
MORC2	Q9Y6X9	p.Tyr277Cys	COSM444878	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30940832T>C	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Thr280Met	RCV000652691	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30940823G>A	ClinVar
MORC2	Q9Y6X9	p.Thr280Met	rs764379949	missense variant	-	NC_000022.11:g.30940823G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg283His	rs1482880426	missense variant	-	NC_000022.11:g.30940814C>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg283Cys	rs765158896	missense variant	-	NC_000022.11:g.30940815G>A	TOPMed
MORC2	Q9Y6X9	p.Thr286Ala	rs935186407	missense variant	-	NC_000022.11:g.30940806T>C	TOPMed
MORC2	Q9Y6X9	p.Arg287His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30940802C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Arg287Leu	rs1362772722	missense variant	-	NC_000022.11:g.30940802C>A	TOPMed
MORC2	Q9Y6X9	p.Ala288Val	rs370353700	missense variant	-	NC_000022.11:g.30940799G>A	ESP,gnomAD
MORC2	Q9Y6X9	p.Lys294Glu	rs1300486034	missense variant	-	NC_000022.11:g.30940782T>C	gnomAD
MORC2	Q9Y6X9	p.His297Arg	rs760296192	missense variant	-	NC_000022.11:g.30940772T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Val298Ile	rs772766261	missense variant	-	NC_000022.11:g.30940770C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val298Leu	rs772766261	missense variant	-	NC_000022.11:g.30940770C>G	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val298Leu	rs772766261	missense variant	-	NC_000022.11:g.30940770C>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val298Leu	RCV000652694	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30940770C>G	ClinVar
MORC2	Q9Y6X9	p.Glu303Lys	rs770948694	missense variant	-	NC_000022.11:g.30940039C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala306Val	rs554250414	missense variant	-	NC_000022.11:g.30940029G>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala306Ser	rs1320772373	missense variant	-	NC_000022.11:g.30940030C>A	gnomAD
MORC2	Q9Y6X9	p.Arg307Trp	rs772692197	missense variant	-	NC_000022.11:g.30940027G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg307Gln	rs748648749	missense variant	-	NC_000022.11:g.30940026C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala309Thr	rs1383231363	missense variant	-	NC_000022.11:g.30940021C>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu310Gly	rs779251830	missense variant	-	NC_000022.11:g.30940017T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser311Gly	rs1368116984	missense variant	-	NC_000022.11:g.30940015T>C	gnomAD
MORC2	Q9Y6X9	p.Lys312Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30940011T>G	NCI-TCGA
MORC2	Q9Y6X9	p.Ala313Ser	rs1269392743	missense variant	-	NC_000022.11:g.30940009C>A	TOPMed
MORC2	Q9Y6X9	p.Arg314Gly	rs369654856	missense variant	-	NC_000022.11:g.30940006G>C	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg314Trp	rs369654856	missense variant	-	NC_000022.11:g.30940006G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg314Gln	rs751140985	missense variant	-	NC_000022.11:g.30940005C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr315Ile	rs763511089	missense variant	-	NC_000022.11:g.30940002G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Leu316Ser	rs1205535409	missense variant	-	NC_000022.11:g.30939999A>G	gnomAD
MORC2	Q9Y6X9	p.Glu317Gln	rs1428608028	missense variant	-	NC_000022.11:g.30939997C>G	TOPMed
MORC2	Q9Y6X9	p.Arg319His	rs1163530787	missense variant	-	NC_000022.11:g.30939990C>T	TOPMed
MORC2	Q9Y6X9	p.Arg319Cys	rs752625837	missense variant	-	NC_000022.11:g.30939991G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg319His	RCV000664212	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30939990C>T	ClinVar
MORC2	Q9Y6X9	p.Asp323Glu	RCV000536375	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30939977G>T	ClinVar
MORC2	Q9Y6X9	p.Asp323Glu	rs199973357	missense variant	-	NC_000022.11:g.30939977G>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr325Met	rs771231575	missense variant	-	NC_000022.11:g.30939972G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr325Lys	rs771231575	missense variant	-	NC_000022.11:g.30939972G>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg326Trp	RCV000550833	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30939970G>A	ClinVar
MORC2	Q9Y6X9	p.Arg326Trp	rs558057376	missense variant	-	NC_000022.11:g.30939970G>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser328Phe	rs1383136576	missense variant	-	NC_000022.11:g.30939963G>A	gnomAD
MORC2	Q9Y6X9	p.Val330Leu	rs1390155636	missense variant	-	NC_000022.11:g.30939706C>A	gnomAD
MORC2	Q9Y6X9	p.Arg333Ter	rs746698035	stop gained	-	NC_000022.11:g.30939697G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Gln334Glu	rs777252717	missense variant	-	NC_000022.11:g.30939694G>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala339Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30939679C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Ala339Thr	rs758093788	missense variant	-	NC_000022.11:g.30939679C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Thr341Ala	rs747708903	missense variant	-	NC_000022.11:g.30939673T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Leu342Arg	rs778551880	missense variant	-	NC_000022.11:g.30939669A>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg343Cys	rs368475981	missense variant	-	NC_000022.11:g.30939667G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg343Leu	rs753651729	missense variant	-	NC_000022.11:g.30939666C>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg343His	rs753651729	missense variant	-	NC_000022.11:g.30939666C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg343His	RCV000524780	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30939666C>T	ClinVar
MORC2	Q9Y6X9	p.Arg344Lys	rs755812939	missense variant	-	NC_000022.11:g.30939663C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu345Lys	rs750686775	missense variant	-	NC_000022.11:g.30939661C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala346Val	rs767764185	missense variant	-	NC_000022.11:g.30939657G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Asp347Asn	rs138994326	missense variant	-	NC_000022.11:g.30939655C>T	ESP,ExAC,gnomAD
MORC2	Q9Y6X9	p.Val348Phe	rs1232906681	missense variant	-	NC_000022.11:g.30939652C>A	gnomAD
MORC2	Q9Y6X9	p.Lys350Arg	rs1376305551	missense variant	-	NC_000022.11:g.30939645T>C	gnomAD
MORC2	Q9Y6X9	p.Arg351Trp	rs763533156	missense variant	-	NC_000022.11:g.30939643T>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Lys356Arg	rs775812123	missense variant	-	NC_000022.11:g.30939627T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg358Ter	rs1198727868	stop gained	-	NC_000022.11:g.30939622G>A	gnomAD
MORC2	Q9Y6X9	p.Arg358Gln	rs200173132	missense variant	-	NC_000022.11:g.30939621C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala359Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30938204C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Leu360Phe	RCV000686746	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30938201G>A	ClinVar
MORC2	Q9Y6X9	p.Leu360Phe	rs1268129848	missense variant	-	NC_000022.11:g.30938201G>A	gnomAD
MORC2	Q9Y6X9	p.Glu362Ter	COSM1033341	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30938195C>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Pro363Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30938192G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Glu365Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.30938186C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Val369Ala	rs764182125	missense variant	-	NC_000022.11:g.30938173A>G	ExAC,gnomAD
MORC2	Q9Y6X9	p.Val372Phe	rs897821512	missense variant	-	NC_000022.11:g.30938165C>A	TOPMed
MORC2	Q9Y6X9	p.Asn373Ser	rs762901266	missense variant	-	NC_000022.11:g.30938161T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile374Thr	rs1366873443	missense variant	-	NC_000022.11:g.30938158A>G	gnomAD
MORC2	Q9Y6X9	p.His376Gln	RCV000762066	missense variant	-	NC_000022.11:g.30938151G>T	ClinVar
MORC2	Q9Y6X9	p.His376Gln	rs1424834448	missense variant	-	NC_000022.11:g.30938151G>T	gnomAD
MORC2	Q9Y6X9	p.Arg377Gln	rs1313283174	missense variant	-	NC_000022.11:g.30938149C>T	TOPMed
MORC2	Q9Y6X9	p.Ile384Met	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30938127G>C	NCI-TCGA
MORC2	Q9Y6X9	p.Ser388Ile	rs1400428370	missense variant	-	NC_000022.11:g.30938116C>A	gnomAD
MORC2	Q9Y6X9	p.Arg389Gln	rs1260621137	missense variant	-	NC_000022.11:g.30938113C>T	TOPMed
MORC2	Q9Y6X9	p.Ile391Met	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30938106G>C	NCI-TCGA
MORC2	Q9Y6X9	p.Ile391Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30938107A>C	NCI-TCGA
MORC2	Q9Y6X9	p.Tyr394Cys	RCV000498431	missense variant	-	NC_000022.11:g.30938098T>C	ClinVar
MORC2	Q9Y6X9	p.Tyr394Cys	rs1555938796	missense variant	-	NC_000022.11:g.30938098T>C	-
MORC2	Q9Y6X9	p.Gly404Arg	rs1268869835	missense variant	-	NC_000022.11:g.30938069C>G	TOPMed
MORC2	Q9Y6X9	p.Met405Val	rs1489926879	missense variant	-	NC_000022.11:g.30938066T>C	gnomAD
MORC2	Q9Y6X9	p.Ala406Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30937967G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Cys407Phe	RCV000656229	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30937964C>A	ClinVar
MORC2	Q9Y6X9	p.Cys407Phe	rs1555938741	missense variant	-	NC_000022.11:g.30937964C>A	-
MORC2	Q9Y6X9	p.Gly409Arg	rs1325489365	missense variant	-	NC_000022.11:g.30937959C>T	gnomAD
MORC2	Q9Y6X9	p.Val410Gly	rs766871664	missense variant	-	NC_000022.11:g.30937955A>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Val413Gly	rs773676225	missense variant	-	NC_000022.11:g.30937946A>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro423Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30937917G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Thr424Arg	VAR_081260	Missense	-	-	UniProt
MORC2	Q9Y6X9	p.Ala433Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30937887C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Ala433Gly	rs1370510062	missense variant	-	NC_000022.11:g.30937886G>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Tyr436Cys	COSM3553448	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30937877T>C	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Arg437Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30937874C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Leu440Val	rs1265201907	missense variant	-	NC_000022.11:g.30937866G>C	TOPMed
MORC2	Q9Y6X9	p.Arg441Ter	rs1401669660	stop gained	-	NC_000022.11:g.30937863G>A	gnomAD
MORC2	Q9Y6X9	p.Met443Ile	rs1468553790	missense variant	-	NC_000022.11:g.30937855C>T	gnomAD
MORC2	Q9Y6X9	p.Gly444Arg	VAR_076460	Missense	Charcot-Marie-Tooth disease 2Z (CMT2Z) [MIM:616688]	-	UniProt
MORC2	Q9Y6X9	p.Ala448Val	rs958295807	missense variant	-	NC_000022.11:g.30937841G>A	TOPMed
MORC2	Q9Y6X9	p.Trp451Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30937831C>G	NCI-TCGA
MORC2	Q9Y6X9	p.Lys452Arg	rs770823800	missense variant	-	NC_000022.11:g.30937829T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Asp453Asn	rs1007541711	missense variant	-	NC_000022.11:g.30937827C>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile454Thr	rs1462459493	missense variant	-	NC_000022.11:g.30937823A>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile454Val	rs746856419	missense variant	-	NC_000022.11:g.30937824T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala455Asp	rs1256419099	missense variant	-	NC_000022.11:g.30937820G>T	gnomAD
MORC2	Q9Y6X9	p.Ile456Ser	rs1314795197	missense variant	-	NC_000022.11:g.30937817A>C	gnomAD
MORC2	Q9Y6X9	p.Ile456Phe	rs1237819801	missense variant	-	NC_000022.11:g.30937818T>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile456Val	rs1237819801	missense variant	-	NC_000022.11:g.30937818T>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala457Thr	rs1240259176	missense variant	-	NC_000022.11:g.30937815C>T	gnomAD
MORC2	Q9Y6X9	p.Arg459Lys	rs769617472	missense variant	-	NC_000022.11:g.30937705C>T	TOPMed
MORC2	Q9Y6X9	p.Gly460Glu	RCV000694058	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30937702C>T	ClinVar
MORC2	Q9Y6X9	p.Ile461AsnPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.30937701_30937702insC	NCI-TCGA
MORC2	Q9Y6X9	p.Asp466His	VAR_076461	Missense	-	-	UniProt
MORC2	Q9Y6X9	p.Ser472Pro	COSM4931687	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30937667A>G	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Asn474His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30937661T>G	NCI-TCGA
MORC2	Q9Y6X9	p.Asn476Ser	rs772885530	missense variant	-	NC_000022.11:g.30937654T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro479Leu	rs1426394911	missense variant	-	NC_000022.11:g.30937645G>A	gnomAD
MORC2	Q9Y6X9	p.Ser481Ile	rs779155513	missense variant	-	NC_000022.11:g.30937639C>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu482Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.30937637C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Arg484Cys	rs755216417	missense variant	-	NC_000022.11:g.30937631G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg484His	rs143046507	missense variant	-	NC_000022.11:g.30937630C>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg487Cys	rs780264849	missense variant	-	NC_000022.11:g.30937622G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg487His	rs756749223	missense variant	-	NC_000022.11:g.30937621C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg488Trp	rs1356503784	missense variant	-	NC_000022.11:g.30937619G>A	gnomAD
MORC2	Q9Y6X9	p.Arg488Gln	rs750886983	missense variant	-	NC_000022.11:g.30937618C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala490Thr	RCV000687756	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30937613C>T	ClinVar
MORC2	Q9Y6X9	p.Met491Ile	rs1325022440	missense variant	-	NC_000022.11:g.30937608C>T	gnomAD
MORC2	Q9Y6X9	p.Met491Val	rs767798376	missense variant	-	NC_000022.11:g.30937610T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu492Gly	rs1280514766	missense variant	-	NC_000022.11:g.30937606T>C	gnomAD
MORC2	Q9Y6X9	p.Thr495Ile	rs1365491718	missense variant	-	NC_000022.11:g.30937597G>A	TOPMed
MORC2	Q9Y6X9	p.Thr496Ser	rs928480423	missense variant	-	NC_000022.11:g.30937595T>A	TOPMed
MORC2	Q9Y6X9	p.Asp500Asn	rs201852637	missense variant	-	NC_000022.11:g.30937583C>T	-
MORC2	Q9Y6X9	p.Leu501Val	rs775818503	missense variant	-	NC_000022.11:g.30937035A>C	ExAC
MORC2	Q9Y6X9	p.Cys502Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.30937030_30937031insGGCCCCAACAAGTCCGTT	NCI-TCGA
MORC2	Q9Y6X9	p.Arg506Ile	COSM1033340	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30937019C>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Gln511Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30937005G>C	NCI-TCGA
MORC2	Q9Y6X9	p.Gln511Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30937004T>C	NCI-TCGA
MORC2	Q9Y6X9	p.Gln511Ter	rs1173395818	stop gained	-	NC_000022.11:g.30937005G>A	TOPMed
MORC2	Q9Y6X9	p.Leu512Gln	COSM3553440	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30937001A>T	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Ser513Asn	rs781119754	missense variant	-	NC_000022.11:g.30936998C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser514Thr	rs1419132371	missense variant	-	NC_000022.11:g.30936996A>T	TOPMed
MORC2	Q9Y6X9	p.Ser514Cys	rs1407971807	missense variant	-	NC_000022.11:g.30936995G>C	TOPMed
MORC2	Q9Y6X9	p.Pro520Ser	rs1555938391	missense variant	-	NC_000022.11:g.30936978G>A	-
MORC2	Q9Y6X9	p.Pro520Arg	rs771536089	missense variant	-	NC_000022.11:g.30936977G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro520Ser	RCV000652677	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30936978G>A	ClinVar
MORC2	Q9Y6X9	p.Asp521Tyr	rs749364295	missense variant	-	NC_000022.11:g.30936975C>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr522Ile	rs778121452	missense variant	-	NC_000022.11:g.30936971G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Trp523Cys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30936967C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Pro529Ser	rs753519224	missense variant	-	NC_000022.11:g.30936951G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro531Arg	rs368467051	missense variant	-	NC_000022.11:g.30936944G>C	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro531Leu	rs368467051	missense variant	-	NC_000022.11:g.30936944G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg535Trp	rs576981610	missense variant	-	NC_000022.11:g.30936933G>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg535Gln	rs750003469	missense variant	-	NC_000022.11:g.30936932C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu537Gln	COSM1308071	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30936639C>G	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Lys542Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30936624T>C	NCI-TCGA
MORC2	Q9Y6X9	p.Gln543Glu	rs971787077	missense variant	-	NC_000022.11:g.30936621G>C	TOPMed
MORC2	Q9Y6X9	p.Pro546Ser	COSM4466755	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30936612G>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Leu547Met	rs1320542815	missense variant	-	NC_000022.11:g.30936609G>T	gnomAD
MORC2	Q9Y6X9	p.Phe550Leu	rs1338480863	missense variant	-	NC_000022.11:g.30936598G>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Phe550Leu	rs1228858484	missense variant	-	NC_000022.11:g.30936600A>G	gnomAD
MORC2	Q9Y6X9	p.Arg551Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30936596C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Met554Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30936586C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Thr556Met	rs776665575	missense variant	-	NC_000022.11:g.30936581G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Gln557Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30936578T>C	NCI-TCGA
MORC2	Q9Y6X9	p.Gln561His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30936565C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Gln563His	rs773249903	missense variant	-	NC_000022.11:g.30936559T>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Thr565Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30936555T>C	NCI-TCGA
MORC2	Q9Y6X9	p.Thr565Ile	rs1467916987	missense variant	-	NC_000022.11:g.30936554G>A	TOPMed
MORC2	Q9Y6X9	p.Thr565Lys	rs1467916987	missense variant	-	NC_000022.11:g.30936554G>T	TOPMed
MORC2	Q9Y6X9	p.Lys567Arg	rs748648883	missense variant	-	NC_000022.11:g.30936548T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg569Cys	RCV000497343	missense variant	-	NC_000022.11:g.30936543G>A	ClinVar
MORC2	Q9Y6X9	p.Arg569His	rs149057277	missense variant	-	NC_000022.11:g.30936542C>T	ESP,ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg569Cys	rs267606222	missense variant	-	NC_000022.11:g.30936543G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg569Leu	rs149057277	missense variant	-	NC_000022.11:g.30936542C>A	ESP,ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu573Lys	rs780749674	missense variant	-	NC_000022.11:g.30936531C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala577Ser	rs756912389	missense variant	-	NC_000022.11:g.30936519C>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Gln579Ter	COSM3553438	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30936513G>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Gln579Arg	rs1199054962	missense variant	-	NC_000022.11:g.30936512T>C	gnomAD
MORC2	Q9Y6X9	p.Pro583Thr	rs770774096	missense variant	-	NC_000022.11:g.30935313G>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg585His	rs137983239	missense variant	-	NC_000022.11:g.30935306C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg585Cys	rs548292999	missense variant	-	NC_000022.11:g.30935307G>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Leu590Val	rs146972491	missense variant	-	NC_000022.11:g.30935292G>C	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Leu590Arg	rs779894782	missense variant	-	NC_000022.11:g.30935291A>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Thr598Ile	rs767604848	missense variant	-	NC_000022.11:g.30935267G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg600Lys	rs200774292	missense variant	-	NC_000022.11:g.30935261C>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro601His	rs764568031	missense variant	-	NC_000022.11:g.30935258G>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro601Arg	rs764568031	missense variant	-	NC_000022.11:g.30935258G>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser602Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30935255G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Pro606Thr	rs779836770	missense variant	-	NC_000022.11:g.30935158G>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro606Ser	rs779836770	missense variant	-	NC_000022.11:g.30935158G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val607Leu	rs141345937	missense variant	-	NC_000022.11:g.30935155C>A	ESP,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val607Ala	rs1555937777	missense variant	-	NC_000022.11:g.30935154A>G	-
MORC2	Q9Y6X9	p.Val607Ala	RCV000652690	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30935154A>G	ClinVar
MORC2	Q9Y6X9	p.Arg608His	rs781443418	missense variant	-	NC_000022.11:g.30935151C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg608Cys	rs373963382	missense variant	-	NC_000022.11:g.30935152G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg608Gly	rs373963382	missense variant	-	NC_000022.11:g.30935152G>C	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg609Thr	rs757458854	missense variant	-	NC_000022.11:g.30935148C>G	ExAC,gnomAD
MORC2	Q9Y6X9	p.Gln611Arg	rs751657222	missense variant	-	NC_000022.11:g.30935142T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg612His	rs763388376	missense variant	-	NC_000022.11:g.30935139C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg612Cys	rs764168751	missense variant	-	NC_000022.11:g.30935140G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro613Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30935137G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Arg614Trp	rs753203218	missense variant	-	NC_000022.11:g.30935134G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg614Gln	rs1399556111	missense variant	-	NC_000022.11:g.30935133C>T	gnomAD
MORC2	Q9Y6X9	p.Pro617His	rs760016835	missense variant	-	NC_000022.11:g.30935124G>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro619Ser	rs777110123	missense variant	-	NC_000022.11:g.30935119G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala620Thr	rs1459400105	missense variant	-	NC_000022.11:g.30935116C>T	gnomAD
MORC2	Q9Y6X9	p.Val621Ter	RCV000699209	frameshift	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30935115dup	ClinVar
MORC2	Q9Y6X9	p.Val621Met	rs1469187350	missense variant	-	NC_000022.11:g.30935113C>T	TOPMed
MORC2	Q9Y6X9	p.Ile622Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30935109A>G	NCI-TCGA
MORC2	Q9Y6X9	p.Ile622Val	rs936078755	missense variant	-	NC_000022.11:g.30935110T>C	TOPMed
MORC2	Q9Y6X9	p.Asn624Ser	rs761518693	missense variant	-	NC_000022.11:g.30935103T>C	ExAC
MORC2	Q9Y6X9	p.Ala625Gly	rs773737902	missense variant	-	NC_000022.11:g.30935100G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala625Thr	rs1476604092	missense variant	-	NC_000022.11:g.30935101C>T	gnomAD
MORC2	Q9Y6X9	p.Ala625Asp	rs773737902	missense variant	-	NC_000022.11:g.30935100G>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro626His	rs147842214	missense variant	-	NC_000022.11:g.30935097G>T	ESP,ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg628Gly	rs1267147618	missense variant	-	NC_000022.11:g.30935092T>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro629Ala	rs769699735	missense variant	-	NC_000022.11:g.30935089G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro629Arg	rs745722246	missense variant	-	NC_000022.11:g.30935088G>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro629His	rs745722246	missense variant	-	NC_000022.11:g.30935088G>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser631Phe	rs1218394103	missense variant	-	NC_000022.11:g.30935082G>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Leu632Met	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30935080A>T	NCI-TCGA
MORC2	Q9Y6X9	p.Thr634Ile	rs757425274	missense variant	-	NC_000022.11:g.30935073G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro635Arg	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30935070G>C	NCI-TCGA
MORC2	Q9Y6X9	p.Pro635Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30935070G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Pro635Ser	rs1280299638	missense variant	-	NC_000022.11:g.30935071G>A	gnomAD
MORC2	Q9Y6X9	p.Pro637Thr	rs777740636	missense variant	-	NC_000022.11:g.30935065G>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala638Pro	rs758467225	missense variant	-	NC_000022.11:g.30935062C>G	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Gln640His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30935054C>G	NCI-TCGA
MORC2	Q9Y6X9	p.Pro641LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.30935052_30935053insA	NCI-TCGA
MORC2	Q9Y6X9	p.Pro641Ser	rs1388377935	missense variant	-	NC_000022.11:g.30935053G>A	gnomAD
MORC2	Q9Y6X9	p.Arg642Ter	rs373881103	stop gained	-	NC_000022.11:g.30935050G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg642Gln	rs765892287	missense variant	-	NC_000022.11:g.30935049C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Lys643Glu	rs1463865042	missense variant	-	NC_000022.11:g.30935047T>C	gnomAD
MORC2	Q9Y6X9	p.Pro645Leu	rs755526155	missense variant	-	NC_000022.11:g.30935040G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile647Val	rs1477506756	missense variant	-	NC_000022.11:g.30935035T>C	gnomAD
MORC2	Q9Y6X9	p.Ile647Thr	rs754318159	missense variant	-	NC_000022.11:g.30935034A>G	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser648Gly	rs200703581	missense variant	-	NC_000022.11:g.30935032T>C	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr650Ile	rs371710965	missense variant	-	NC_000022.11:g.30935025G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr650Ile	RCV000652692	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30935025G>A	ClinVar
MORC2	Q9Y6X9	p.Lys652Arg	rs774005231	missense variant	-	NC_000022.11:g.30935019T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Lys652Asn	rs763542037	missense variant	-	NC_000022.11:g.30935018C>G	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro654Leu	rs762562780	missense variant	-	NC_000022.11:g.30935013G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala655Thr	rs774970275	missense variant	-	NC_000022.11:g.30935011C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala658Thr	rs1025079681	missense variant	-	NC_000022.11:g.30935002C>T	gnomAD
MORC2	Q9Y6X9	p.Ala658Ser	rs1025079681	missense variant	-	NC_000022.11:g.30935002C>A	gnomAD
MORC2	Q9Y6X9	p.Arg659Trp	rs781527357	missense variant	-	NC_000022.11:g.30934999G>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg659Gln	rs769791429	missense variant	-	NC_000022.11:g.30934998C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu660Lys	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30934996C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Glu660Val	rs776424321	missense variant	-	NC_000022.11:g.30934995T>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu660Ala	rs776424321	missense variant	-	NC_000022.11:g.30934995T>G	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala662Thr	rs770714218	missense variant	-	NC_000022.11:g.30934990C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala662Asp	rs1444539161	missense variant	-	NC_000022.11:g.30934989G>T	gnomAD
MORC2	Q9Y6X9	p.Ser665Cys	rs1402143255	missense variant	-	NC_000022.11:g.30934980G>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg666Ser	rs1413491250	missense variant	-	NC_000022.11:g.30934976C>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Leu667Pro	rs1399587798	missense variant	-	NC_000022.11:g.30934974A>G	gnomAD
MORC2	Q9Y6X9	p.Leu668Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30934972G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Pro670Leu	rs747230744	missense variant	-	NC_000022.11:g.30934965G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu672Gln	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30934960C>G	NCI-TCGA
MORC2	Q9Y6X9	p.Ala673Gly	rs778099643	missense variant	-	NC_000022.11:g.30934956G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro674Ala	rs1178513326	missense variant	-	NC_000022.11:g.30934954G>C	gnomAD
MORC2	Q9Y6X9	p.Pro674Leu	rs758529949	missense variant	-	NC_000022.11:g.30934953G>A	ExAC
MORC2	Q9Y6X9	p.Arg675Gln	rs563612262	missense variant	-	NC_000022.11:g.30934950C>T	1000Genomes,ExAC,gnomAD
MORC2	Q9Y6X9	p.Leu681ArgPheSerTerUnkUnk	COSM1033339	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30934931_30934932GA>-	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Val682Ile	RCV000558469	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30934930C>T	ClinVar
MORC2	Q9Y6X9	p.Val682Ile	rs144493873	missense variant	-	NC_000022.11:g.30934930C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr684Ala	rs766675520	missense variant	-	NC_000022.11:g.30934924T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser686AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.30934896_30934918TGCACCAGAGGGGCAGGTCGGGA>-	NCI-TCGA
MORC2	Q9Y6X9	p.Arg687Gly	rs1309955820	missense variant	-	NC_000022.11:g.30934915G>C	gnomAD
MORC2	Q9Y6X9	p.Arg687Gln	rs201772330	missense variant	-	NC_000022.11:g.30934914C>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro688Leu	rs1456920538	missense variant	-	NC_000022.11:g.30934911G>A	TOPMed
MORC2	Q9Y6X9	p.Ala689Val	rs560948457	missense variant	-	NC_000022.11:g.30934908G>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro690Leu	rs752208368	missense variant	-	NC_000022.11:g.30934905G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Leu691Pro	rs142307145	missense variant	-	NC_000022.11:g.30934902A>G	ESP,ExAC,gnomAD
MORC2	Q9Y6X9	p.Gln694His	rs151033664	missense variant	-	NC_000022.11:g.30934892T>G	ESP,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser696ThrLeu	NCI-TCGA novel	insertion	-	NC_000022.11:g.30934886_30934887insAATGTA	NCI-TCGA
MORC2	Q9Y6X9	p.Pro697Ser	rs770746258	missense variant	-	NC_000022.11:g.30934885G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser698Pro	rs897158764	missense variant	-	NC_000022.11:g.30934882A>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser698Pro	RCV000652682	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30934882A>G	ClinVar
MORC2	Q9Y6X9	p.Leu700Pro	rs772866972	missense variant	-	NC_000022.11:g.30934875A>G	ExAC,gnomAD
MORC2	Q9Y6X9	p.Asn702Lys	rs201032497	missense variant	-	NC_000022.11:g.30934868G>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser703Ala	rs748310325	missense variant	-	NC_000022.11:g.30934867A>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Lys704Arg	rs1286651998	missense variant	-	NC_000022.11:g.30934863T>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro706Ser	rs1386693989	missense variant	-	NC_000022.11:g.30934858G>A	gnomAD
MORC2	Q9Y6X9	p.Arg707Gln	rs768807060	missense variant	-	NC_000022.11:g.30934854C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg707Gln	RCV000652687	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30934854C>T	ClinVar
MORC2	Q9Y6X9	p.Arg707Trp	rs779144529	missense variant	-	NC_000022.11:g.30934855G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu708Asp	rs201652834	missense variant	-	NC_000022.11:g.30934850C>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val709Ile	rs1015638849	missense variant	-	NC_000022.11:g.30934849C>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro710Ser	RCV000652679	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30934846G>A	ClinVar
MORC2	Q9Y6X9	p.Pro710Ser	rs780648306	missense variant	-	NC_000022.11:g.30934846G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro710Leu	rs1296015586	missense variant	-	NC_000022.11:g.30934845G>A	gnomAD
MORC2	Q9Y6X9	p.Pro712Leu	rs1360682657	missense variant	-	NC_000022.11:g.30934839G>A	gnomAD
MORC2	Q9Y6X9	p.Pro712Ser	rs1401272017	missense variant	-	NC_000022.11:g.30934840G>A	gnomAD
MORC2	Q9Y6X9	p.Pro712His	rs1360682657	missense variant	-	NC_000022.11:g.30934839G>T	gnomAD
MORC2	Q9Y6X9	p.Lys713Arg	rs572065690	missense variant	-	NC_000022.11:g.30934836T>C	1000Genomes,ExAC,gnomAD
MORC2	Q9Y6X9	p.Lys716Arg	rs750868340	missense variant	-	NC_000022.11:g.30934827T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro718Arg	rs781347453	missense variant	-	NC_000022.11:g.30934821G>C	ExAC
MORC2	Q9Y6X9	p.Val720Leu	rs1411986814	missense variant	-	NC_000022.11:g.30934816C>G	gnomAD
MORC2	Q9Y6X9	p.Lys721Asn	rs564766575	missense variant	-	NC_000022.11:g.30934811C>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Lys721Arg	rs892018476	missense variant	-	NC_000022.11:g.30934812T>C	TOPMed
MORC2	Q9Y6X9	p.Lys721Asn	rs564766575	missense variant	-	NC_000022.11:g.30934811C>G	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu724Gly	rs1031845854	missense variant	-	NC_000022.11:g.30934803T>C	TOPMed
MORC2	Q9Y6X9	p.Ser725Leu	rs1475628051	missense variant	-	NC_000022.11:g.30934800G>A	gnomAD
MORC2	Q9Y6X9	p.Pro726Leu	rs1000336064	missense variant	-	NC_000022.11:g.30934797G>A	TOPMed
MORC2	Q9Y6X9	p.Lys728Glu	rs1189904059	missense variant	-	NC_000022.11:g.30934792T>C	gnomAD
MORC2	Q9Y6X9	p.Lys728Arg	rs1191862462	missense variant	-	NC_000022.11:g.30934791T>C	gnomAD
MORC2	Q9Y6X9	p.Ser730Thr	rs759091855	missense variant	-	NC_000022.11:g.30934786A>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro731Ser	rs766400089	missense variant	-	NC_000022.11:g.30934783G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro731Leu	rs760522350	missense variant	-	NC_000022.11:g.30934782G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Pro731Leu	RCV000658936	missense variant	-	NC_000022.11:g.30934782G>A	ClinVar
MORC2	Q9Y6X9	p.Ala732Gly	rs1369195279	missense variant	-	NC_000022.11:g.30934190G>C	gnomAD
MORC2	Q9Y6X9	p.Thr733Ile	rs1208548110	missense variant	-	NC_000022.11:g.30934187G>A	gnomAD
MORC2	Q9Y6X9	p.Pro734Leu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30934184G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Ser735Gly	rs186049675	missense variant	-	NC_000022.11:g.30934182T>C	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg736Trp	rs767451837	missense variant	-	NC_000022.11:g.30934179G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg738Gln	rs761740534	missense variant	-	NC_000022.11:g.30934172C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Val740Ile	rs543735221	missense variant	-	NC_000022.11:g.30934167C>T	1000Genomes
MORC2	Q9Y6X9	p.Ala741Thr	rs774264562	missense variant	-	NC_000022.11:g.30934164C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala741Pro	rs774264562	missense variant	-	NC_000022.11:g.30934164C>G	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser743Phe	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30934157G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Ser743Pro	rs1355314928	missense variant	-	NC_000022.11:g.30934158A>G	gnomAD
MORC2	Q9Y6X9	p.Ser743Tyr	rs142840638	missense variant	-	NC_000022.11:g.30934157G>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Asp744Gly	rs763203419	missense variant	-	NC_000022.11:g.30934154T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Val748CysPheSerTerUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.30934143_30934144insA	NCI-TCGA
MORC2	Q9Y6X9	p.Val748Ala	rs746418433	missense variant	-	NC_000022.11:g.30934142A>G	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu750Lys	rs1236088807	missense variant	-	NC_000022.11:g.30934137C>T	gnomAD
MORC2	Q9Y6X9	p.Glu751Gly	rs1255016937	missense variant	-	NC_000022.11:g.30934133T>C	gnomAD
MORC2	Q9Y6X9	p.Glu751Lys	rs777048144	missense variant	-	NC_000022.11:g.30934134C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala752Thr	rs1207662510	missense variant	-	NC_000022.11:g.30934131C>T	gnomAD
MORC2	Q9Y6X9	p.Glu757Gly	rs774444542	missense variant	-	NC_000022.11:g.30934115T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Cys759Tyr	rs747434209	missense variant	-	NC_000022.11:g.30934109C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg761Gln	rs754626172	missense variant	-	NC_000022.11:g.30934103C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg761Trp	RCV000547285	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30934104G>A	ClinVar
MORC2	Q9Y6X9	p.Arg761Trp	rs369384586	missense variant	-	NC_000022.11:g.30934104G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg763Thr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30934097C>G	NCI-TCGA
MORC2	Q9Y6X9	p.Phe764Leu	rs1393469763	missense variant	-	NC_000022.11:g.30934095A>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Phe764Leu	rs1396767941	missense variant	-	NC_000022.11:g.30934093A>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu768Gly	rs1381697088	missense variant	-	NC_000022.11:g.30934082T>C	gnomAD
MORC2	Q9Y6X9	p.Glu769Lys	rs924947796	missense variant	-	NC_000022.11:g.30934080C>T	TOPMed
MORC2	Q9Y6X9	p.Glu769Val	rs1446108389	missense variant	-	NC_000022.11:g.30934079T>A	gnomAD
MORC2	Q9Y6X9	p.Lys771Ter	RCV000598874	nonsense	-	NC_000022.11:g.30934074T>A	ClinVar
MORC2	Q9Y6X9	p.Lys771Ter	rs1555937236	stop gained	-	NC_000022.11:g.30934074T>A	-
MORC2	Q9Y6X9	p.Asp772Glu	rs1174370013	missense variant	-	NC_000022.11:g.30934069G>T	gnomAD
MORC2	Q9Y6X9	p.Ser773Leu	rs554785074	missense variant	-	NC_000022.11:g.30934067G>A	1000Genomes,ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser773Thr	rs1418966449	missense variant	-	NC_000022.11:g.30934068A>T	gnomAD
MORC2	Q9Y6X9	p.Leu776Phe	rs1486497006	missense variant	-	NC_000022.11:g.30933520G>A	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser779Arg	rs1022082270	missense variant	-	NC_000022.11:g.30933511T>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser779Asn	rs757275863	missense variant	-	NC_000022.11:g.30933510C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser779Gly	rs1022082270	missense variant	-	NC_000022.11:g.30933511T>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu783Ter	rs1337452928	stop gained	-	NC_000022.11:g.30933499C>A	gnomAD
MORC2	Q9Y6X9	p.Asp784Gly	rs1294128558	missense variant	-	NC_000022.11:g.30933495T>C	gnomAD
MORC2	Q9Y6X9	p.Ser785Leu	rs551185965	missense variant	-	NC_000022.11:g.30933492G>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala786Thr	rs752518393	missense variant	-	NC_000022.11:g.30933490C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala786Gly	rs765437788	missense variant	-	NC_000022.11:g.30933489G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Asp787Glu	rs766384151	missense variant	-	NC_000022.11:g.30933485G>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Lys789Glu	rs773667183	missense variant	-	NC_000022.11:g.30933481T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Lys789Arg	rs1217262379	missense variant	-	NC_000022.11:g.30933480T>C	TOPMed
MORC2	Q9Y6X9	p.Arg790Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30933477C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Ala791Val	rs772600152	missense variant	-	NC_000022.11:g.30933474G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala791Gly	rs772600152	missense variant	-	NC_000022.11:g.30933474G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Lys793Gln	rs1425097407	missense variant	-	NC_000022.11:g.30933469T>G	gnomAD
MORC2	Q9Y6X9	p.Leu797Gln	rs1259713033	missense variant	-	NC_000022.11:g.30933021A>T	TOPMed
MORC2	Q9Y6X9	p.His798Arg	rs1236354994	missense variant	-	NC_000022.11:g.30933018T>C	gnomAD
MORC2	Q9Y6X9	p.His798Tyr	rs1254339344	missense variant	-	NC_000022.11:g.30933019G>A	gnomAD
MORC2	Q9Y6X9	p.Val799Met	rs370149816	missense variant	-	NC_000022.11:g.30933016C>T	ESP,ExAC,gnomAD
MORC2	Q9Y6X9	p.Val801Met	rs1489333271	missense variant	-	NC_000022.11:g.30933010C>T	TOPMed
MORC2	Q9Y6X9	p.Arg802His	COSM184850	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30933006C>T	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Asn804Ser	rs759734334	missense variant	-	NC_000022.11:g.30933000T>C	TOPMed
MORC2	Q9Y6X9	p.Trp807Ter	rs554086969	stop gained	-	NC_000022.11:g.30932990C>T	1000Genomes,ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg811Ser	rs767566826	missense variant	-	NC_000022.11:g.30932980G>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg811His	rs1163301326	missense variant	-	NC_000022.11:g.30932979C>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala814Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30932971C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Ala814Val	COSM1415749	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30932970G>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Val815Met	rs1396182121	missense variant	-	NC_000022.11:g.30932968C>T	gnomAD
MORC2	Q9Y6X9	p.Glu816Lys	rs1158644986	missense variant	-	NC_000022.11:g.30932965C>T	gnomAD
MORC2	Q9Y6X9	p.Val817Leu	rs752066714	missense variant	-	NC_000022.11:g.30932962C>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Lys819Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30932954C>A	NCI-TCGA
MORC2	Q9Y6X9	p.Arg823Gln	rs764479914	missense variant	-	NC_000022.11:g.30932943C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Val831Met	rs1452993249	missense variant	-	NC_000022.11:g.30932920C>T	TOPMed
MORC2	Q9Y6X9	p.Thr833Ala	rs1486061047	missense variant	-	NC_000022.11:g.30932914T>C	gnomAD
MORC2	Q9Y6X9	p.Asp834Gly	rs1287094385	missense variant	-	NC_000022.11:g.30932910T>C	TOPMed
MORC2	Q9Y6X9	p.Thr835Arg	COSM3553426	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30932907G>C	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Thr835Met	rs760341830	missense variant	-	NC_000022.11:g.30932907G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg838Ter	NCI-TCGA novel	stop gained	-	NC_000022.11:g.30932899T>A	NCI-TCGA
MORC2	Q9Y6X9	p.Arg840His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30932892C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Arg840Gly	rs771558349	missense variant	-	NC_000022.11:g.30932893G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Val842Leu	rs954359222	missense variant	-	NC_000022.11:g.30932768C>A	TOPMed
MORC2	Q9Y6X9	p.Gly845Asp	rs1319601548	missense variant	-	NC_000022.11:g.30932758C>T	gnomAD
MORC2	Q9Y6X9	p.Ser846Arg	rs1405133799	missense variant	-	NC_000022.11:g.30932756T>G	gnomAD
MORC2	Q9Y6X9	p.Asp848Glu	rs1167291928	missense variant	-	NC_000022.11:g.30932748A>T	gnomAD
MORC2	Q9Y6X9	p.Asp848Asn	rs1380344040	missense variant	-	NC_000022.11:g.30932750C>T	TOPMed
MORC2	Q9Y6X9	p.Asp848Ala	rs775277249	missense variant	-	NC_000022.11:g.30932749T>G	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg850Trp	rs373048769	missense variant	-	NC_000022.11:g.30932744G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro854Ser	rs1184836129	missense variant	-	NC_000022.11:g.30932732G>A	gnomAD
MORC2	Q9Y6X9	p.Pro855LeuPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000022.11:g.30932728G>-	NCI-TCGA
MORC2	Q9Y6X9	p.Pro855Ser	rs369585779	missense variant	-	NC_000022.11:g.30932729G>A	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro855Leu	rs1232833094	missense variant	-	NC_000022.11:g.30932728G>A	gnomAD
MORC2	Q9Y6X9	p.Pro857Leu	rs1345884860	missense variant	-	NC_000022.11:g.30932722G>A	TOPMed
MORC2	Q9Y6X9	p.Pro857Ala	rs1279734763	missense variant	-	NC_000022.11:g.30932723G>C	TOPMed
MORC2	Q9Y6X9	p.Glu858Asp	rs1212477212	missense variant	-	NC_000022.11:g.30932718T>A	TOPMed
MORC2	Q9Y6X9	p.Glu858Lys	rs1198148351	missense variant	-	NC_000022.11:g.30932720C>T	gnomAD
MORC2	Q9Y6X9	p.LeuAspThrGlnGlnGluGly862LeuAspThrGlnGlnGluGlyTerTyrThrThrGlyGlyUnk	rs1555936598	stop gained	-	NC_000022.11:g.30932689_30932707dup	-
MORC2	Q9Y6X9	p.Asp863His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30932705C>G	NCI-TCGA
MORC2	Q9Y6X9	p.Asp863Glu	rs1274820228	missense variant	-	NC_000022.11:g.30932703A>T	gnomAD
MORC2	Q9Y6X9	p.Gln865Arg	rs1480181047	missense variant	-	NC_000022.11:g.30932698T>C	TOPMed
MORC2	Q9Y6X9	p.Gly869Ter	RCV000623450	nonsense	Inborn genetic diseases	NC_000022.11:g.30932689_30932707dup	ClinVar
MORC2	Q9Y6X9	p.Gly869Arg	rs143046823	missense variant	-	NC_000022.11:g.30932687C>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu870Asp	rs375217252	missense variant	-	NC_000022.11:g.30932682C>G	ESP,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu870Gln	rs1255812110	missense variant	-	NC_000022.11:g.30932684C>G	gnomAD
MORC2	Q9Y6X9	p.Glu872Gln	rs753210391	missense variant	-	NC_000022.11:g.30932678C>G	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val873Leu	rs138350528	missense variant	-	NC_000022.11:g.30932675C>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val873Leu	rs138350528	missense variant	-	NC_000022.11:g.30932675C>G	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro875Ala	rs754127740	missense variant	-	NC_000022.11:g.30932669G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Gln878His	RCV000652693	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30932658C>G	ClinVar
MORC2	Q9Y6X9	p.Gln878His	rs1388475410	missense variant	-	NC_000022.11:g.30932658C>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Gln878Leu	rs767254485	missense variant	-	NC_000022.11:g.30932659T>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Gln879Glu	rs1399798893	missense variant	-	NC_000022.11:g.30932657G>C	gnomAD
MORC2	Q9Y6X9	p.Ile881Thr	rs761366027	missense variant	-	NC_000022.11:g.30932650A>G	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ile881Met	rs1379697348	missense variant	-	NC_000022.11:g.30932649T>C	TOPMed
MORC2	Q9Y6X9	p.Ala882Val	rs762899928	missense variant	-	NC_000022.11:g.30932647G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala882Thr	rs372199572	missense variant	-	NC_000022.11:g.30932648C>T	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala882Pro	rs372199572	missense variant	-	NC_000022.11:g.30932648C>G	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val883Ile	rs775447036	missense variant	-	NC_000022.11:g.30932645C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala884Thr	rs372297066	missense variant	-	NC_000022.11:g.30932642C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu885Gln	rs1194004265	missense variant	-	NC_000022.11:g.30932639C>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu885Gly	rs776286972	missense variant	-	NC_000022.11:g.30932638T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser887Phe	COSM3553424	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30932632G>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Ser887Tyr	rs771192309	missense variant	-	NC_000022.11:g.30932632G>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser889Ala	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30932627A>C	NCI-TCGA
MORC2	Q9Y6X9	p.Ser889Cys	rs747144945	missense variant	-	NC_000022.11:g.30932626G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Glu890Lys	rs201090445	missense variant	-	NC_000022.11:g.30932624C>T	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Cys891Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30932620C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Leu892Phe	rs748203997	missense variant	-	NC_000022.11:g.30932618G>A	ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg893His	rs202243108	missense variant	-	NC_000022.11:g.30932614C>T	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg893Cys	rs150496681	missense variant	-	NC_000022.11:g.30932615G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg893Leu	rs202243108	missense variant	-	NC_000022.11:g.30932614C>A	1000Genomes,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ile894Val	rs1376706321	missense variant	-	NC_000022.11:g.30932612T>C	gnomAD
MORC2	Q9Y6X9	p.Glu895Asp	rs371685129	missense variant	-	NC_000022.11:g.30932607C>G	ESP,ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Pro896Arg	rs756946772	missense variant	-	NC_000022.11:g.30932605G>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ala900Val	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30932593G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Ala900Ser	rs1555936530	missense variant	-	NC_000022.11:g.30932594C>A	-
MORC2	Q9Y6X9	p.Ala900Ser	RCV000534380	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30932594C>A	ClinVar
MORC2	Q9Y6X9	p.Leu901Pro	rs751164695	missense variant	-	NC_000022.11:g.30932590A>G	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser902Gly	rs1432991533	missense variant	-	NC_000022.11:g.30932588T>C	gnomAD
MORC2	Q9Y6X9	p.Ser902Thr	rs141633101	missense variant	-	NC_000022.11:g.30932587C>G	ESP,ExAC,TOPMed
MORC2	Q9Y6X9	p.Thr903Ser	rs762499940	missense variant	-	NC_000022.11:g.30932584G>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Asn904Ser	rs1042426757	missense variant	-	NC_000022.11:g.30932581T>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.His905Tyr	rs1402877477	missense variant	-	NC_000022.11:g.30932579G>A	TOPMed
MORC2	Q9Y6X9	p.Glu906Lys	rs759328437	missense variant	-	NC_000022.11:g.30932576C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Asp909Asn	rs770586964	missense variant	-	NC_000022.11:g.30932567C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Leu910Met	rs374410153	missense variant	-	NC_000022.11:g.30932564G>T	ESP,TOPMed
MORC2	Q9Y6X9	p.Val912Phe	RCV000688951	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30932558C>A	ClinVar
MORC2	Q9Y6X9	p.Ile914Ser	rs772397976	missense variant	-	NC_000022.11:g.30932551A>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Leu915Ile	rs1316632272	missense variant	-	NC_000022.11:g.30932549G>T	gnomAD
MORC2	Q9Y6X9	p.Arg916Trp	rs1305351282	missense variant	-	NC_000022.11:g.30932546G>A	gnomAD
MORC2	Q9Y6X9	p.Arg916Gln	rs974685925	missense variant	-	NC_000022.11:g.30932545C>T	TOPMed
MORC2	Q9Y6X9	p.Cys918Trp	rs767914603	missense variant	-	NC_000022.11:g.30932446A>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg920Gln	rs762057484	missense variant	-	NC_000022.11:g.30932441C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ser926Gly	rs768569356	missense variant	-	NC_000022.11:g.30932424T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser930Tyr	rs1341365393	missense variant	-	NC_000022.11:g.30932411G>T	TOPMed
MORC2	Q9Y6X9	p.Lys932Gln	rs1290632259	missense variant	-	NC_000022.11:g.30932406T>G	gnomAD
MORC2	Q9Y6X9	p.Ala936Thr	rs749832228	missense variant	-	NC_000022.11:g.30932394C>T	ExAC,gnomAD
MORC2	Q9Y6X9	p.Asn938Ser	rs1349107983	missense variant	-	NC_000022.11:g.30932387T>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Asp940His	rs775910270	missense variant	-	NC_000022.11:g.30932382C>G	ExAC
MORC2	Q9Y6X9	p.Leu942Val	COSM4769926	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30932376G>C	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Ile943Met	COSM4929865	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30932371T>C	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Ile943Thr	rs770321874	missense variant	-	NC_000022.11:g.30932372A>G	ExAC,gnomAD
MORC2	Q9Y6X9	p.Ile943Val	rs1162268371	missense variant	-	NC_000022.11:g.30932373T>C	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ser944Tyr	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30932369G>T	NCI-TCGA
MORC2	Q9Y6X9	p.Ser944Cys	rs1235246986	missense variant	-	NC_000022.11:g.30932369G>C	gnomAD
MORC2	Q9Y6X9	p.Pro946Ser	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30932364G>A	NCI-TCGA
MORC2	Q9Y6X9	p.Pro946Leu	rs1417889591	missense variant	-	NC_000022.11:g.30932363G>A	gnomAD
MORC2	Q9Y6X9	p.Glu949Asp	rs1285225047	missense variant	-	NC_000022.11:g.30928202C>A	TOPMed
MORC2	Q9Y6X9	p.Leu958Ile	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30928177G>T	NCI-TCGA
MORC2	Q9Y6X9	p.Asn960Lys	rs750335952	missense variant	-	NC_000022.11:g.30928169G>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Asn963Ser	RCV000658935	missense variant	-	NC_000022.11:g.30928161T>C	ClinVar
MORC2	Q9Y6X9	p.Asn963Ser	rs781162787	missense variant	-	NC_000022.11:g.30928161T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Gln966His	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30928151C>G	NCI-TCGA
MORC2	Q9Y6X9	p.Ser967Asn	rs757157506	missense variant	-	NC_000022.11:g.30928149C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg968His	rs370918395	missense variant	-	NC_000022.11:g.30928146C>T	ESP,ExAC,gnomAD
MORC2	Q9Y6X9	p.Arg968Cys	rs764290080	missense variant	-	NC_000022.11:g.30928147G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Asp970Glu	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30928139G>T	NCI-TCGA
MORC2	Q9Y6X9	p.Asp970Asn	rs1252988467	missense variant	-	NC_000022.11:g.30928141C>T	gnomAD
MORC2	Q9Y6X9	p.Ser971Phe	COSM4861331	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30928137G>A	NCI-TCGA Cosmic
MORC2	Q9Y6X9	p.Ser971Cys	rs142559213	missense variant	-	NC_000022.11:g.30928137G>C	1000Genomes
MORC2	Q9Y6X9	p.Arg972Gln	rs1278082078	missense variant	-	NC_000022.11:g.30928134C>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg972Trp	RCV000548906	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30928135G>A	ClinVar
MORC2	Q9Y6X9	p.Arg972Trp	rs1485425350	missense variant	-	NC_000022.11:g.30928135G>A	gnomAD
MORC2	Q9Y6X9	p.Ala973Thr	rs1236422279	missense variant	-	NC_000022.11:g.30928132C>T	gnomAD
MORC2	Q9Y6X9	p.Ser976Thr	rs1479285921	missense variant	-	NC_000022.11:g.30928123A>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu977Lys	rs777166169	missense variant	-	NC_000022.11:g.30928120C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu978Asp	rs1337135631	missense variant	-	NC_000022.11:g.30928115T>G	gnomAD
MORC2	Q9Y6X9	p.Arg981Cys	rs1307310663	missense variant	-	NC_000022.11:g.30928108G>A	gnomAD
MORC2	Q9Y6X9	p.Arg981His	rs901120411	missense variant	-	NC_000022.11:g.30928107C>T	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr982Ala	RCV000526856	missense variant	Charcot-Marie-Tooth disease, axonal, type 2z (CMT2Z)	NC_000022.11:g.30928105T>C	ClinVar
MORC2	Q9Y6X9	p.Thr982Ala	rs771410096	missense variant	-	NC_000022.11:g.30928105T>C	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu984Lys	rs773617883	missense variant	-	NC_000022.11:g.30928099C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg988Cys	rs748910060	missense variant	-	NC_000022.11:g.30928087G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Arg988His	rs747693260	missense variant	-	NC_000022.11:g.30928086C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Thr990Met	rs745339848	missense variant	-	NC_000022.11:g.30928080G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu991Asp	rs1235978797	missense variant	-	NC_000022.11:g.30928076C>A	TOPMed
MORC2	Q9Y6X9	p.Lys996Asn	rs949572717	missense variant	-	NC_000022.11:g.30928061C>G	gnomAD
MORC2	Q9Y6X9	p.Val1002Leu	rs778221935	missense variant	-	NC_000022.11:g.30928045C>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Val1002Met	rs778221935	missense variant	-	NC_000022.11:g.30928045C>T	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Ala1003Val	rs752921354	missense variant	-	NC_000022.11:g.30928041G>A	ExAC,TOPMed,gnomAD
MORC2	Q9Y6X9	p.Glu1010Gln	rs1202036526	missense variant	-	NC_000022.11:g.30928021C>G	TOPMed,gnomAD
MORC2	Q9Y6X9	p.Asp1011Asn	rs1342054043	missense variant	-	NC_000022.11:g.30926871C>T	gnomAD
MORC2	Q9Y6X9	p.Thr1016Ala	rs746468192	missense variant	-	NC_000022.11:g.30926856T>C	ExAC,gnomAD
MORC2	Q9Y6X9	p.Asp1017Asn	NCI-TCGA novel	missense variant	-	NC_000022.11:g.30926853C>T	NCI-TCGA
MORC2	Q9Y6X9	p.Ala1022Pro	rs12330040	missense variant	-	NC_000022.11:g.30926838C>G	gnomAD
MORC2	Q9Y6X9	p.Ala1022Thr	rs12330040	missense variant	-	NC_000022.11:g.30926838C>T	gnomAD
MORC2	Q9Y6X9	p.Ile1024Asn	rs1353963202	missense variant	-	NC_000022.11:g.30926831A>T	gnomAD
MORC2	Q9Y6X9	p.Ile1024Thr	rs1353963202	missense variant	-	NC_000022.11:g.30926831A>G	gnomAD
MORC2	Q9Y6X9	p.Lys1030Thr	rs1187544796	missense variant	-	NC_000022.11:g.30926813T>G	TOPMed
MORC2	Q9Y6X9	p.Gly1031Glu	rs1173000971	missense variant	-	NC_000022.11:g.30926810C>T	gnomAD
MORC2	Q9Y6X9	p.Ter1033Trp	rs1452280768	stop lost	-	NC_000022.11:g.30926803T>C	gnomAD
COMMD3-BMI1	R4GMX3	p.Glu2Lys	rs953209238	missense variant	-	NC_000010.11:g.22316421G>A	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu2Asp	rs199921951	missense variant	-	NC_000010.11:g.22316423G>T	1000Genomes,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu2Gln	rs953209238	missense variant	-	NC_000010.11:g.22316421G>C	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Leu3His	rs1375800217	missense variant	-	NC_000010.11:g.22316425T>A	TOPMed
COMMD3-BMI1	R4GMX3	p.Leu3Val	rs1244381708	missense variant	-	NC_000010.11:g.22316424C>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Leu3Phe	NCI-TCGA novel	missense variant	-	NC_000010.11:g.22316424C>T	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Ser4Leu	rs1186373447	missense variant	-	NC_000010.11:g.22316428C>T	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu5Lys	rs1260094425	missense variant	-	NC_000010.11:g.22316430G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Ser6Phe	rs1175148436	missense variant	-	NC_000010.11:g.22316434C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Ser6Ala	rs1468769835	missense variant	-	NC_000010.11:g.22316433T>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Gln8Ter	rs1184565516	stop gained	-	NC_000010.11:g.22316439C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Gln8Leu	rs992434160	missense variant	-	NC_000010.11:g.22316440A>T	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Gln8Arg	rs992434160	missense variant	-	NC_000010.11:g.22316440A>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Lys9Glu	rs140818298	missense variant	-	NC_000010.11:g.22316442A>G	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Lys9Gln	rs140818298	missense variant	-	NC_000010.11:g.22316442A>C	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Lys9Thr	rs974038630	missense variant	-	NC_000010.11:g.22316443A>C	TOPMed
COMMD3-BMI1	R4GMX3	p.Lys9Arg	rs974038630	missense variant	-	NC_000010.11:g.22316443A>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Phe11Val	rs1346952900	missense variant	-	NC_000010.11:g.22316448T>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Gln12Arg	rs1431194611	missense variant	-	NC_000010.11:g.22316452A>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Gln12Pro	rs1431194611	missense variant	-	NC_000010.11:g.22316452A>C	gnomAD
COMMD3-BMI1	R4GMX3	p.Met13Ile	rs143441354	missense variant	-	NC_000010.11:g.22316456G>A	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Met13Ile	rs143441354	missense variant	-	NC_000010.11:g.22316456G>T	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Leu14Val	rs1446223715	missense variant	-	NC_000010.11:g.22316457C>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Ala15Glu	rs918637028	missense variant	-	NC_000010.11:g.22316461C>A	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala15Gly	rs918637028	missense variant	-	NC_000010.11:g.22316461C>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala15Val	rs918637028	missense variant	-	NC_000010.11:g.22316461C>T	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp16Val	rs1304500743	missense variant	-	NC_000010.11:g.22316464A>T	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp16Gly	rs1304500743	missense variant	-	NC_000010.11:g.22316464A>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Pro17Ser	rs533527351	missense variant	-	NC_000010.11:g.22316466C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Pro17His	rs1411377802	missense variant	-	NC_000010.11:g.22316467C>A	TOPMed
COMMD3-BMI1	R4GMX3	p.Arg18Cys	rs11552445	missense variant	-	NC_000010.11:g.22316469C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg18Gly	rs11552445	missense variant	-	NC_000010.11:g.22316469C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser19Phe	rs928896343	missense variant	-	NC_000010.11:g.22316473C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Asp21Ala	rs1470131269	missense variant	-	NC_000010.11:g.22316479A>C	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn23Ser	rs373854912	missense variant	-	NC_000010.11:g.22316485A>G	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn23Asp	rs749426689	missense variant	-	NC_000010.11:g.22316484A>G	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Thr26Lys	rs1189018405	missense variant	-	NC_000010.11:g.22316494C>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Leu27Phe	rs1401159675	missense variant	-	NC_000010.11:g.22316496C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Leu28Phe	rs774405221	missense variant	-	NC_000010.11:g.22316499C>T	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Leu29Phe	rs901797219	missense variant	-	NC_000010.11:g.22316502C>T	TOPMed
COMMD3-BMI1	R4GMX3	p.Ala31Val	rs140293380	missense variant	-	NC_000010.11:g.22316509C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala31Glu	rs140293380	missense variant	-	NC_000010.11:g.22316509C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala32Thr	rs1370622398	missense variant	-	NC_000010.11:g.22316511G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Phe33Leu	rs1434588346	missense variant	-	NC_000010.11:g.22316516C>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Ser35Arg	rs772005875	missense variant	-	NC_000010.11:g.22316522T>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp38Ala	rs773162718	missense variant	-	NC_000010.11:g.22316530A>C	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp38His	rs1374181248	missense variant	-	NC_000010.11:g.22316529G>C	gnomAD
COMMD3-BMI1	R4GMX3	p.Ala39Ser	rs745894179	missense variant	-	NC_000010.11:g.22316532G>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Ala41Gly	rs1337377581	missense variant	-	NC_000010.11:g.22316539C>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Glu43Lys	rs1436104637	missense variant	-	NC_000010.11:g.22316544G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Ala44Val	NCI-TCGA novel	missense variant	-	NC_000010.11:g.22316548C>T	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Val45Met	rs1041385737	missense variant	-	NC_000010.11:g.22316550G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Asp47Glu	rs774889597	missense variant	-	NC_000010.11:g.22317885T>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.His48Tyr	rs762505507	missense variant	-	NC_000010.11:g.22317886C>T	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.His48Asn	rs762505507	missense variant	-	NC_000010.11:g.22317886C>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.His48Arg	rs1303099398	missense variant	-	NC_000010.11:g.22317887A>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Pro49Ser	rs1271566812	missense variant	-	NC_000010.11:g.22317889C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Pro49Arg	rs1339580097	missense variant	-	NC_000010.11:g.22317890C>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp50Gly	rs750927222	missense variant	-	NC_000010.11:g.22317893A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp50Glu	rs1271805429	missense variant	-	NC_000010.11:g.22317894C>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Asp50Tyr	NCI-TCGA novel	missense variant	-	NC_000010.11:g.22317892G>T	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.His53Leu	rs756531761	missense variant	-	NC_000010.11:g.22317902A>T	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ile54Thr	rs766744221	missense variant	-	NC_000010.11:g.22317905T>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ile54Val	rs1211463894	missense variant	-	NC_000010.11:g.22317904A>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Asp55Asn	rs754165911	missense variant	-	NC_000010.11:g.22317907G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Pro56Ala	rs755177169	missense variant	-	NC_000010.11:g.22317910C>G	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.His61Arg	COSM4912458	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.22317926A>G	NCI-TCGA Cosmic
COMMD3-BMI1	R4GMX3	p.His63Arg	rs748214105	missense variant	-	NC_000010.11:g.22317932A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala64Val	rs758546043	missense variant	-	NC_000010.11:g.22317935C>T	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala64Gly	rs758546043	missense variant	-	NC_000010.11:g.22317935C>G	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala65Val	rs1407448055	missense variant	-	NC_000010.11:g.22317938C>T	TOPMed
COMMD3-BMI1	R4GMX3	p.Ala65GlyPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.22317936_22317937insG	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Ala66Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.22317940G>T	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Thr68Ala	rs1417907824	missense variant	-	NC_000010.11:g.22317946A>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Tyr69Ser	rs1319328716	missense variant	-	NC_000010.11:g.22317950A>C	gnomAD
COMMD3-BMI1	R4GMX3	p.Tyr69Ter	rs770921306	stop gained	-	NC_000010.11:g.22317951C>A	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu72Gln	rs543113343	missense variant	-	NC_000010.11:g.22317958G>C	1000Genomes,ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala73Val	rs559797623	missense variant	-	NC_000010.11:g.22317962C>T	1000Genomes,ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Gly74Glu	rs763582726	missense variant	-	NC_000010.11:g.22317965G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Lys75Asn	NCI-TCGA novel	missense variant	-	NC_000010.11:g.22317969G>T	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Arg77Gln	rs773794310	missense variant	-	NC_000010.11:g.22317974G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg77Pro	rs773794310	missense variant	-	NC_000010.11:g.22317974G>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp79Glu	rs761175014	missense variant	-	NC_000010.11:g.22317981C>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp79Val	rs1468194413	missense variant	-	NC_000010.11:g.22317980A>T	TOPMed
COMMD3-BMI1	R4GMX3	p.Asp79Asn	rs1186876088	missense variant	-	NC_000010.11:g.22317979G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Thr82Ile	rs1323318115	missense variant	-	NC_000010.11:g.22317989C>T	TOPMed
COMMD3-BMI1	R4GMX3	p.Thr82Ser	rs1454761053	missense variant	-	NC_000010.11:g.22317988A>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Ser84Asn	rs1213900981	missense variant	-	NC_000010.11:g.22317995G>A	TOPMed
COMMD3-BMI1	R4GMX3	p.Ser84Arg	rs771382008	missense variant	-	NC_000010.11:g.22318105C>A	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Thr85Ser	rs1392674501	missense variant	-	NC_000010.11:g.22318107C>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Thr85Ala	rs1384269849	missense variant	-	NC_000010.11:g.22318106A>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu88Gly	rs1297960698	missense variant	-	NC_000010.11:g.22318116A>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Glu88Gln	rs759874425	missense variant	-	NC_000010.11:g.22318115G>C	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu88Ter	rs759874425	stop gained	-	NC_000010.11:g.22318115G>T	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp89Asn	rs1054972885	missense variant	-	NC_000010.11:g.22318118G>A	TOPMed
COMMD3-BMI1	R4GMX3	p.Asp93Gly	rs1263954988	missense variant	-	NC_000010.11:g.22318131A>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Glu95Gln	rs1481649082	missense variant	-	NC_000010.11:g.22318136G>C	gnomAD
COMMD3-BMI1	R4GMX3	p.Arg96Gln	rs138788733	missense variant	-	NC_000010.11:g.22318140G>A	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ile97Val	rs1251174031	missense variant	-	NC_000010.11:g.22318142A>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Phe100Leu	rs1176350033	missense variant	-	NC_000010.11:g.22318153T>A	TOPMed
COMMD3-BMI1	R4GMX3	p.Cys101Ser	rs1483261307	missense variant	-	NC_000010.11:g.22318155G>C	TOPMed
COMMD3-BMI1	R4GMX3	p.Cys101Ter	rs1253830480	stop gained	-	NC_000010.11:g.22318156C>A	TOPMed
COMMD3-BMI1	R4GMX3	p.Cys101AlaPheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.22318151T>-	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Thr102Met	rs148962388	missense variant	-	NC_000010.11:g.22318158C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu103Lys	rs1258606057	missense variant	-	NC_000010.11:g.22318160G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Glu103Ter	NCI-TCGA novel	stop gained	-	NC_000010.11:g.22318160G>T	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Gln105Ter	rs1366421212	stop gained	-	NC_000010.11:g.22318166C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Asn107Lys	rs1361383224	missense variant	-	NC_000010.11:g.22318277T>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Lys108Asn	rs750402771	missense variant	-	NC_000010.11:g.22318280G>T	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Lys108Glu	rs767650585	missense variant	-	NC_000010.11:g.22318278A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn109Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.22318282A>G	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Leu111Pro	rs1166479514	missense variant	-	NC_000010.11:g.22318288T>C	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Leu119Pro	rs369311018	missense variant	-	NC_000010.11:g.22318964T>C	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Pro121Leu	rs1471443185	missense variant	-	NC_000010.11:g.22318970C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Pro121Ser	NCI-TCGA novel	missense variant	-	NC_000010.11:g.22318969C>T	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.His122Tyr	rs148388360	missense variant	-	NC_000010.11:g.22318972C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Pro123Leu	COSM3436546	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.22318976C>T	NCI-TCGA Cosmic
COMMD3-BMI1	R4GMX3	p.Gln125Glu	rs1318184738	missense variant	-	NC_000010.11:g.22318981C>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Arg126Gly	rs1392237487	missense variant	-	NC_000010.11:g.22318984A>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Leu127Ter	COSM917037	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.22318988T>G	NCI-TCGA Cosmic
COMMD3-BMI1	R4GMX3	p.Leu129Phe	rs753348282	missense variant	-	NC_000010.11:g.22318995A>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Val130Ile	rs376503129	missense variant	-	NC_000010.11:g.22318996G>A	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Trp133Cys	rs370953837	missense variant	-	NC_000010.11:g.22319007G>C	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Trp133Ter	rs370953837	stop gained	-	NC_000010.11:g.22319007G>A	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn134Lys	rs757610657	missense variant	-	NC_000010.11:g.22319010C>A	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn135Asp	rs781453568	missense variant	-	NC_000010.11:g.22319011A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Tyr136Cys	rs746106385	missense variant	-	NC_000010.11:g.22319015A>G	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg137Lys	rs756297695	missense variant	-	NC_000010.11:g.22319018G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ile138Thr	rs777102106	missense variant	-	NC_000010.11:g.22326433T>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Phe139Leu	NCI-TCGA novel	missense variant	-	NC_000010.11:g.22326437T>G	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Tyr140His	rs759947678	missense variant	-	NC_000010.11:g.22326438T>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Tyr140IlePheSerTerUnkUnk	NCI-TCGA novel	frameshift	-	NC_000010.11:g.22326433T>-	NCI-TCGA
COMMD3-BMI1	R4GMX3	p.Gln141Leu	rs371061751	missense variant	-	NC_000010.11:g.22326442A>T	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Gln141Arg	rs371061751	missense variant	-	NC_000010.11:g.22326442A>G	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala142Val	rs1289925149	missense variant	-	NC_000010.11:g.22326445C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Thr147Ala	rs1361730718	missense variant	-	NC_000010.11:g.22326459A>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Thr148Lys	rs1358157329	missense variant	-	NC_000010.11:g.22326463C>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Arg149Ile	rs1220132289	missense variant	-	NC_000010.11:g.22326466G>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Arg149Ser	rs1299305599	missense variant	-	NC_000010.11:g.22326467A>T	TOPMed
COMMD3-BMI1	R4GMX3	p.Ile150Met	rs763207530	missense variant	-	NC_000010.11:g.22326470C>G	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Leu155Val	rs1294694270	missense variant	-	NC_000010.11:g.22326483C>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Pro157Thr	rs1230983994	missense variant	-	NC_000010.11:g.22326489C>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Cys161Tyr	rs1042059	missense variant	-	NC_000010.11:g.22326502G>A	-
COMMD3-BMI1	R4GMX3	p.Val162Ala	rs202133405	missense variant	-	NC_000010.11:g.22326505T>C	1000Genomes
COMMD3-BMI1	R4GMX3	p.Val162Met	rs750273099	missense variant	-	NC_000010.11:g.22326504G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Leu163Phe	rs1370355215	missense variant	-	NC_000010.11:g.22326507C>T	TOPMed
COMMD3-BMI1	R4GMX3	p.Ile169Val	rs573475997	missense variant	-	NC_000010.11:g.22326525A>G	1000Genomes,ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ile174Val	rs748955471	missense variant	-	NC_000010.11:g.22326540A>G	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ile175Val	rs1361296039	missense variant	-	NC_000010.11:g.22326543A>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser180Phe	rs778504649	missense variant	-	NC_000010.11:g.22326559C>T	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ile186Val	rs1023927369	missense variant	-	NC_000010.11:g.22326904A>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Arg188Pro	rs377305365	missense variant	-	NC_000010.11:g.22326911G>C	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg188His	rs377305365	missense variant	-	NC_000010.11:g.22326911G>A	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu191Lys	rs772060983	missense variant	-	NC_000010.11:g.22326919G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu191Asp	rs887654358	missense variant	-	NC_000010.11:g.22326921G>T	TOPMed
COMMD3-BMI1	R4GMX3	p.Ile198Val	rs536718245	missense variant	-	NC_000010.11:g.22326940A>G	1000Genomes,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn211His	rs1203399014	missense variant	-	NC_000010.11:g.22326979A>C	gnomAD
COMMD3-BMI1	R4GMX3	p.Ile212Val	rs1323074440	missense variant	-	NC_000010.11:g.22326982A>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Thr217Ser	rs1389866664	missense variant	-	NC_000010.11:g.22327606C>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Ile221Met	rs763818630	missense variant	-	NC_000010.11:g.22327619T>G	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ile221Thr	rs1341130987	missense variant	-	NC_000010.11:g.22327618T>C	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn232Lys	rs1260869205	missense variant	-	NC_000010.11:g.22327743T>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Lys235Glu	rs763906949	missense variant	-	NC_000010.11:g.22327750A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala243Thr	rs1469458151	missense variant	-	NC_000010.11:g.22327774G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Ser246Cys	rs139371320	missense variant	-	NC_000010.11:g.22327784C>G	ESP,TOPMed
COMMD3-BMI1	R4GMX3	p.Ala247Pro	rs761499549	missense variant	-	NC_000010.11:g.22327786G>C	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp248Glu	rs1360423416	missense variant	-	NC_000010.11:g.22327791T>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Asp248Val	rs145972442	missense variant	-	NC_000010.11:g.22327790A>T	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala249Val	rs752150110	missense variant	-	NC_000010.11:g.22327950C>T	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ala250Ser	rs1290608620	missense variant	-	NC_000010.11:g.22327952G>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Asn251Asp	rs760224972	missense variant	-	NC_000010.11:g.22327955A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn251Ser	rs757918929	missense variant	-	NC_000010.11:g.22327956A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Val260Ile	rs1223657592	missense variant	-	NC_000010.11:g.22327982G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Thr269Ala	rs764472509	missense variant	-	NC_000010.11:g.22328009A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ile278Val	rs1034322141	missense variant	-	NC_000010.11:g.22328036A>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Phe281Ser	rs757522660	missense variant	-	NC_000010.11:g.22328046T>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Gln283Arg	rs781442876	missense variant	-	NC_000010.11:g.22328052A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Gln283Pro	rs781442876	missense variant	-	NC_000010.11:g.22328052A>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg285Gly	rs1214071588	missense variant	-	NC_000010.11:g.22328057A>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Arg288Gly	rs530837837	missense variant	-	NC_000010.11:g.22328141C>G	1000Genomes,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg288Gln	rs182575015	missense variant	-	NC_000010.11:g.22328142G>A	1000Genomes,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg288Trp	rs530837837	missense variant	-	NC_000010.11:g.22328141C>T	1000Genomes,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Val290Ile	rs762162726	missense variant	-	NC_000010.11:g.22328147G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser297Cys	rs767692282	missense variant	-	NC_000010.11:g.22328169C>G	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu299Lys	rs1366338297	missense variant	-	NC_000010.11:g.22328174G>A	TOPMed
COMMD3-BMI1	R4GMX3	p.Val301Ala	rs1326897789	missense variant	-	NC_000010.11:g.22328601T>C	gnomAD
COMMD3-BMI1	R4GMX3	p.Asn302Ser	rs1429973268	missense variant	-	NC_000010.11:g.22328604A>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Lys304Thr	rs1268165271	missense variant	-	NC_000010.11:g.22328610A>C	gnomAD
COMMD3-BMI1	R4GMX3	p.Arg308Gln	rs1347220224	missense variant	-	NC_000010.11:g.22328622G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Met313Val	rs754013901	missense variant	-	NC_000010.11:g.22328636A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Thr314Ala	rs868749055	missense variant	-	NC_000010.11:g.22328639A>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Met316Arg	rs765347768	missense variant	-	NC_000010.11:g.22328646T>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Met316Thr	rs765347768	missense variant	-	NC_000010.11:g.22328646T>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser324Cys	rs758224919	missense variant	-	NC_000010.11:g.22328669A>T	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Phe332Val	rs1159749636	missense variant	-	NC_000010.11:g.22328693T>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Phe332Ser	rs746758445	missense variant	-	NC_000010.11:g.22328694T>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Gln333Lys	rs1400017902	missense variant	-	NC_000010.11:g.22328696C>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Asp335Tyr	rs1206647896	missense variant	-	NC_000010.11:g.22329051G>T	TOPMed
COMMD3-BMI1	R4GMX3	p.Met337Ile	rs374772719	missense variant	-	NC_000010.11:g.22329059G>C	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Glu339Gly	rs368898842	missense variant	-	NC_000010.11:g.22329064A>G	ESP,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Pro342Ser	rs1357298199	missense variant	-	NC_000010.11:g.22329072C>T	TOPMed
COMMD3-BMI1	R4GMX3	p.Met350Thr	rs1366486896	missense variant	-	NC_000010.11:g.22329097T>C	gnomAD
COMMD3-BMI1	R4GMX3	p.Trp358Arg	rs764148533	missense variant	-	NC_000010.11:g.22329120T>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn361Ser	rs1053920601	missense variant	-	NC_000010.11:g.22329214A>G	TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Leu364Phe	rs1325105001	missense variant	-	NC_000010.11:g.22329222C>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Arg371Gln	rs746203016	missense variant	-	NC_000010.11:g.22329244G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Lys375Glu	rs1202429072	missense variant	-	NC_000010.11:g.22329255A>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Ser380Gly	rs1270856629	missense variant	-	NC_000010.11:g.22329270A>G	TOPMed
COMMD3-BMI1	R4GMX3	p.His381Tyr	rs775560798	missense variant	-	NC_000010.11:g.22329273C>T	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Gln382His	rs1476756983	missense variant	-	NC_000010.11:g.22329278G>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Gln382Pro	rs763176154	missense variant	-	NC_000010.11:g.22329277A>C	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Gly385Glu	rs1201320002	missense variant	-	NC_000010.11:g.22329286G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Leu386Val	rs1023647345	missense variant	-	NC_000010.11:g.22329288C>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Ala389Val	rs202165238	missense variant	-	NC_000010.11:g.22329298C>T	1000Genomes,ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Gly390Arg	rs1173995971	missense variant	-	NC_000010.11:g.22329300G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Glu391Asp	rs761763487	missense variant	-	NC_000010.11:g.22329305A>T	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Asp399GluLysTyrPheTyrTerValIleUnk	rs1454743744	stop gained	-	NC_000010.11:g.22329328_22329329insAAAATATTTTTATTAAGTAATA	gnomAD
COMMD3-BMI1	R4GMX3	p.Asp399Glu	rs1288860147	missense variant	-	NC_000010.11:g.22329329C>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Ala401Thr	rs1369792740	missense variant	-	NC_000010.11:g.22329333G>A	TOPMed
COMMD3-BMI1	R4GMX3	p.Asn402Tyr	rs1009236602	missense variant	-	NC_000010.11:g.22329336A>T	gnomAD
COMMD3-BMI1	R4GMX3	p.Asn402Ser	rs750261916	missense variant	-	NC_000010.11:g.22329337A>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Gly406Glu	rs1345703450	missense variant	-	NC_000010.11:g.22329349G>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Gly407Asp	rs1443642428	missense variant	-	NC_000010.11:g.22329352G>A	TOPMed
COMMD3-BMI1	R4GMX3	p.Pro409Thr	rs760461431	missense variant	-	NC_000010.11:g.22329357C>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser410Thr	rs1318256822	missense variant	-	NC_000010.11:g.22329360T>A	gnomAD
COMMD3-BMI1	R4GMX3	p.Ser412Cys	rs753450025	missense variant	-	NC_000010.11:g.22329367C>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser412Phe	rs753450025	missense variant	-	NC_000010.11:g.22329367C>T	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Cys414Tyr	rs754615197	missense variant	-	NC_000010.11:g.22329373G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Pro416Leu	rs778305888	missense variant	-	NC_000010.11:g.22329379C>T	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Pro418Arg	rs752226313	missense variant	-	NC_000010.11:g.22329385C>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser419Gly	rs376521566	missense variant	-	NC_000010.11:g.22329387A>G	ESP,ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Val422Gly	rs1410240311	missense variant	-	NC_000010.11:g.22329397T>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Pro425Arg	rs1419820839	missense variant	-	NC_000010.11:g.22329406C>G	gnomAD
COMMD3-BMI1	R4GMX3	p.Gln428Leu	rs368232993	missense variant	-	NC_000010.11:g.22329415A>T	ESP,ExAC
COMMD3-BMI1	R4GMX3	p.Phe429Ser	rs145613627	missense variant	-	NC_000010.11:g.22329418T>C	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Thr435Ala	rs148911593	missense variant	-	NC_000010.11:g.22329435A>G	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Met436Val	rs780400625	missense variant	-	NC_000010.11:g.22329438A>G	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Met436Ile	rs749504587	missense variant	-	NC_000010.11:g.22329440G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn441Ser	rs866781440	missense variant	-	NC_000010.11:g.22329454A>G	TOPMed
COMMD3-BMI1	R4GMX3	p.Gly445Ser	rs761853504	missense variant	-	NC_000010.11:g.22329465G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.His447Tyr	rs772066505	missense variant	-	NC_000010.11:g.22329471C>T	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Gln448Ter	rs773125077	stop gained	-	NC_000010.11:g.22329474C>T	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser450Ala	rs766114933	missense variant	-	NC_000010.11:g.22329480T>G	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Asn453Ser	rs201024480	missense variant	-	NC_000010.11:g.22329490A>G	1000Genomes,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg454Lys	rs764909255	missense variant	-	NC_000010.11:g.22329493G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Pro455Ser	rs142604751	missense variant	-	NC_000010.11:g.22329495C>T	ESP,ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg456Ter	rs757966770	stop gained	-	NC_000010.11:g.22329498C>T	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Arg456Leu	rs374810543	missense variant	-	NC_000010.11:g.22329499G>T	ESP,TOPMed
COMMD3-BMI1	R4GMX3	p.Val460Ile	rs763640328	missense variant	-	NC_000010.11:g.22329510G>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser463Leu	rs756604711	missense variant	-	NC_000010.11:g.22329520C>T	ExAC,TOPMed,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser464Pro	rs780304444	missense variant	-	NC_000010.11:g.22329522T>C	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Ser467Thr	rs749643858	missense variant	-	NC_000010.11:g.22329531T>A	ExAC,gnomAD
COMMD3-BMI1	R4GMX3	p.Gly469Arg	rs755197537	missense variant	-	NC_000010.11:g.22329537G>C	ExAC,gnomAD
ZNF385B	Q569K4	p.Ser242Gly	VAR_053765	Missense	-	-	UniProt
ZNF385B	Q569K4	p.Phe416Tyr	VAR_076447	Missense	-	-	UniProt
Tns1	A0A087WQ94	p.Thr3Met	rs245713964	missense variant	-	NC_000067.6:g.73995367G>A	UniProt
Tns1	A0A087WQ94	p.Ser551Pro	rs240388647	missense variant	-	NC_000067.6:g.73953360A>G	UniProt
Tns1	A0A087WQ94	p.Thr607Ala	rs253321857	missense variant	-	NC_000067.6:g.73953192T>C	UniProt
Tns1	A0A087WQ94	p.Ala722Gly	rs263787430	missense variant	-	NC_000067.6:g.73952846G>C	UniProt
Tns1	A0A087WQ94	p.Val776Leu	rs40124058	missense variant	-	NC_000067.6:g.73952685C>G	UniProt
Tns1	A0A087WQ94	p.Pro781Ser	rs234051669	missense variant	-	NC_000067.6:g.73952670G>A	UniProt
Tns1	A0A087WQ94	p.Ala816Val	rs257283086	missense variant	-	NC_000067.6:g.73952564G>A	UniProt
Tns1	A0A087WQ94	p.Pro1052Leu	rs216729157	missense variant	-	NC_000067.6:g.73927975G>A	UniProt
Tns1	A0A087WQ94	p.Leu1062Phe	rs232433393	missense variant	-	NC_000067.6:g.73927946G>A	UniProt
Tns1	A0A087WQ94	p.Ser1120Leu	rs231715928	missense variant	-	NC_000067.6:g.73925629G>A	UniProt
Tns1	A0A087WQ94	p.Pro1138Thr	rs37603471	missense variant	-	NC_000067.6:g.73925576G>T	UniProt
Tns1	A0A087WQ94	p.Gly1179Ser	rs213496858	missense variant	-	NC_000067.6:g.73925453C>T	UniProt
Tns1	A0A087WQ94	p.Val1214Met	rs251973274	missense variant	-	NC_000067.6:g.73925348C>T	UniProt
Tns1	A0A087WQ94	p.Met1405Leu	rs254279848	missense variant	-	NC_000067.6:g.73924775T>A	UniProt
Tns1	A0A087WQ94	p.His1416Tyr	rs219219170	missense variant	-	NC_000067.6:g.73924742G>A	UniProt
Tns1	A0A087WQ94	p.Thr1417Met	rs32231492	missense variant	-	NC_000067.6:g.73924738G>A	UniProt
Tns1	A0A087WQ94	p.Ser1714Asn	rs36340401	missense variant	-	NC_000067.6:g.73914549C>T	UniProt
Mtrr	A0A0R4J0G9	p.Gln90Arg	rs51607956	missense variant	-	NC_000079.6:g.68579557T>C	UniProt
Mtrr	A0A0R4J0G9	p.Val110Ile	rs228018396	missense variant	-	NC_000079.6:g.68577661C>T	UniProt
Mtrr	A0A0R4J0G9	p.Asn162Lys	rs49034975	missense variant	-	NC_000079.6:g.68575306G>C	UniProt
Mtrr	A0A0R4J0G9	p.Ser168Pro	rs253353379	missense variant	-	NC_000079.6:g.68575290A>G	UniProt
Mtrr	A0A0R4J0G9	p.Ala173Thr	rs47939525	missense variant	-	NC_000079.6:g.68575275C>T	UniProt
Mtrr	A0A0R4J0G9	p.Asp197Glu	rs249042934	missense variant	-	NC_000079.6:g.68575201G>T	UniProt
Mtrr	A0A0R4J0G9	p.Met198Val	rs3688493	missense variant	-	NC_000079.6:g.68575200T>C	UniProt
Mtrr	A0A0R4J0G9	p.Asn209Asp	rs47982597	missense variant	-	NC_000079.6:g.68575167T>C	UniProt
Mtrr	A0A0R4J0G9	p.Gly214Ser	rs231212580	missense variant	-	NC_000079.6:g.68575152C>T	UniProt
Mtrr	A0A0R4J0G9	p.Ser239Asn	rs240150603	missense variant	-	NC_000079.6:g.68575076C>T	UniProt
Mtrr	A0A0R4J0G9	p.Leu256Phe	rs47928040	missense variant	-	NC_000079.6:g.68575026G>A	UniProt
Mtrr	A0A0R4J0G9	p.Glu324Asp	rs254500805	missense variant	-	NC_000079.6:g.68571149T>A	UniProt
Mtrr	A0A0R4J0G9	p.His337Tyr	rs258656113	missense variant	-	NC_000079.6:g.68571112G>A	UniProt
Mtrr	A0A0R4J0G9	p.Arg362Ser	rs260879538	missense variant	-	NC_000079.6:g.68570060G>T	UniProt
Mtrr	A0A0R4J0G9	p.Pro430Gln	rs264355025	missense variant	-	NC_000079.6:g.68568804G>T	UniProt
Mtrr	A0A0R4J0G9	p.Arg459Leu	rs265780357	missense variant	-	NC_000079.6:g.68566243C>A	UniProt
Mtrr	A0A0R4J0G9	p.Arg459Cys	rs227404603	missense variant	-	NC_000079.6:g.68566244G>A	UniProt
Mtrr	A0A0R4J0G9	p.Leu482Pro	rs50224447	missense variant	-	NC_000079.6:g.68566174A>G	UniProt
Mtrr	A0A0R4J0G9	p.Val508Ala	rs48039369	missense variant	-	NC_000079.6:g.68566096A>G	UniProt
Mtrr	A0A0R4J0G9	p.Ala513Thr	rs47456674	missense variant	-	NC_000079.6:g.68566082C>T	UniProt
Mtrr	A0A0R4J0G9	p.Met572Ile	rs249667300	missense variant	-	NC_000079.6:g.68564647C>T	UniProt
Mtrr	A0A0R4J0G9	p.Ala611Thr	rs239240073	missense variant	-	NC_000079.6:g.68564435C>T	UniProt
Mtrr	A0A0R4J0G9	p.Val645Ile	rs49091341	missense variant	-	NC_000079.6:g.68564333C>T	UniProt
Mtrr	A0A0R4J0G9	p.Ala651Val	rs46118283	missense variant	-	NC_000079.6:g.68562427G>A	UniProt
Mtrr	A0A0R4J0G9	p.Ala651Asp	rs46118283	missense variant	-	NC_000079.6:g.68562427G>T	UniProt
Mtrr	A0A0R4J0G9	p.Asn668Lys	rs47793946	missense variant	-	NC_000079.6:g.68562375A>T	UniProt
Mtrr	A0A0R4J0G9	p.Gly671Asp	rs49432849	missense variant	-	NC_000079.6:g.68562367C>T	UniProt
Mtrr	A0A0R4J0G9	p.Ala677Ser	rs52002155	missense variant	-	NC_000079.6:g.68562350C>A	UniProt
Mtrr	A0A0R4J0G9	p.Ala677Pro	rs52002155	missense variant	-	NC_000079.6:g.68562350C>G	UniProt
Mtrr	A0A0R4J0G9	p.Thr680Met	rs580227079	missense variant	-	NC_000079.6:g.68562340G>A	UniProt
Mtrr	A0A0R4J0G9	p.Gln90Arg	rs51607956	missense variant	-	NC_000079.6:g.68579557T>C	UniProt
Mtrr	A0A0R4J0G9	p.Val110Ile	rs228018396	missense variant	-	NC_000079.6:g.68577661C>T	UniProt
Mtrr	A0A0R4J0G9	p.Asn162Lys	rs49034975	missense variant	-	NC_000079.6:g.68575306G>C	UniProt
Mtrr	A0A0R4J0G9	p.Ser168Pro	rs253353379	missense variant	-	NC_000079.6:g.68575290A>G	UniProt
Mtrr	A0A0R4J0G9	p.Ala173Thr	rs47939525	missense variant	-	NC_000079.6:g.68575275C>T	UniProt
Mtrr	A0A0R4J0G9	p.Asp197Glu	rs249042934	missense variant	-	NC_000079.6:g.68575201G>T	UniProt
Mtrr	A0A0R4J0G9	p.Met198Val	rs3688493	missense variant	-	NC_000079.6:g.68575200T>C	UniProt
Mtrr	A0A0R4J0G9	p.Asn209Asp	rs47982597	missense variant	-	NC_000079.6:g.68575167T>C	UniProt
Mtrr	A0A0R4J0G9	p.Gly214Ser	rs231212580	missense variant	-	NC_000079.6:g.68575152C>T	UniProt
Mtrr	A0A0R4J0G9	p.Ser239Asn	rs240150603	missense variant	-	NC_000079.6:g.68575076C>T	UniProt
Mtrr	A0A0R4J0G9	p.Leu256Phe	rs47928040	missense variant	-	NC_000079.6:g.68575026G>A	UniProt
Mtrr	A0A0R4J0G9	p.Glu324Asp	rs254500805	missense variant	-	NC_000079.6:g.68571149T>A	UniProt
Mtrr	A0A0R4J0G9	p.His337Tyr	rs258656113	missense variant	-	NC_000079.6:g.68571112G>A	UniProt
Mtrr	A0A0R4J0G9	p.Arg362Ser	rs260879538	missense variant	-	NC_000079.6:g.68570060G>T	UniProt
Mtrr	A0A0R4J0G9	p.Pro430Gln	rs264355025	missense variant	-	NC_000079.6:g.68568804G>T	UniProt
Mtrr	A0A0R4J0G9	p.Arg459Cys	rs227404603	missense variant	-	NC_000079.6:g.68566244G>A	UniProt
Mtrr	A0A0R4J0G9	p.Arg459Leu	rs265780357	missense variant	-	NC_000079.6:g.68566243C>A	UniProt
Mtrr	A0A0R4J0G9	p.Leu482Pro	rs50224447	missense variant	-	NC_000079.6:g.68566174A>G	UniProt
Mtrr	A0A0R4J0G9	p.Val508Ala	rs48039369	missense variant	-	NC_000079.6:g.68566096A>G	UniProt
Mtrr	A0A0R4J0G9	p.Ala513Thr	rs47456674	missense variant	-	NC_000079.6:g.68566082C>T	UniProt
Mtrr	A0A0R4J0G9	p.Met572Ile	rs249667300	missense variant	-	NC_000079.6:g.68564647C>T	UniProt
Mtrr	A0A0R4J0G9	p.Ala611Thr	rs239240073	missense variant	-	NC_000079.6:g.68564435C>T	UniProt
Mtrr	A0A0R4J0G9	p.Val645Ile	rs49091341	missense variant	-	NC_000079.6:g.68564333C>T	UniProt
Mtrr	A0A0R4J0G9	p.Ala651Asp	rs46118283	missense variant	-	NC_000079.6:g.68562427G>T	UniProt
Mtrr	A0A0R4J0G9	p.Ala651Val	rs46118283	missense variant	-	NC_000079.6:g.68562427G>A	UniProt
Mtrr	A0A0R4J0G9	p.Asn668Lys	rs47793946	missense variant	-	NC_000079.6:g.68562375A>T	UniProt
Mtrr	A0A0R4J0G9	p.Gly671Asp	rs49432849	missense variant	-	NC_000079.6:g.68562367C>T	UniProt
Mtrr	A0A0R4J0G9	p.Ala677Ser	rs52002155	missense variant	-	NC_000079.6:g.68562350C>A	UniProt
Mtrr	A0A0R4J0G9	p.Ala677Pro	rs52002155	missense variant	-	NC_000079.6:g.68562350C>G	UniProt
Mtrr	A0A0R4J0G9	p.Thr680Met	rs580227079	missense variant	-	NC_000079.6:g.68562340G>A	UniProt
Nat1	A0A1D5RLG2	p.Leu154Arg	rs37818236	missense variant	-	NC_000074.6:g.67491425T>G	UniProt
Nat1	A0A1D5RLG2	p.His235Arg	rs241347428	missense variant	-	NC_000074.6:g.67491668A>G	UniProt
Tmem19	A0A1W2P7P6	p.Val25Ile	rs223880217	missense variant	-	NC_000076.6:g.115359723C>T	UniProt
Tmem19	A0A1W2P7P6	p.Glu119Lys	rs228209682	missense variant	-	NC_000076.6:g.115347212C>T	UniProt
Tmem19	A0A1W2P7P6	p.Val25Ile	rs223880217	missense variant	-	NC_000076.6:g.115359723C>T	UniProt
Tmem19	A0A1W2P7P6	p.Glu119Lys	rs228209682	missense variant	-	NC_000076.6:g.115347212C>T	UniProt
Tanc2	A2A690	p.Val37Ile	rs1133634794	missense variant	-	NC_000077.6:g.105673461G>A	UniProt
Tanc2	A2A690	p.Met232Ile	rs232402059	missense variant	-	NC_000077.6:g.105798709G>T	UniProt
Tanc2	A2A690	p.Asn709Ser	rs227019368	missense variant	-	NC_000077.6:g.105867540A>G	UniProt
Tanc2	A2A690	p.Ser893Ala	rs1133608696	missense variant	-	NC_000077.6:g.105896552T>G	UniProt
Tanc2	A2A690	p.His894Asn	rs1134909898	missense variant	-	NC_000077.6:g.105896555C>A	UniProt
Tanc2	A2A690	p.Gly1465Ser	rs260205428	missense variant	-	NC_000077.6:g.105922124G>A	UniProt
Tanc2	A2A690	p.Ser1529Asn	rs240482845	missense variant	-	NC_000077.6:g.105922317G>A	UniProt
Mthfr	A2A7F9	p.Ser22Gly	rs27617540	missense variant	-	NC_000070.6:g.148041660A>G	UniProt
Mthfr	A2A7F9	p.Ala115Ser	rs230803675	missense variant	-	NC_000070.6:g.148043534G>T	UniProt
Cplane2	A2A825	p.Tyr24His	rs864308532	missense variant	-	NC_000070.6:g.141214430T>C	UniProt
Cplane2	A2A825	p.Leu40Ile	rs27571372	missense variant	-	NC_000070.6:g.141217257C>A	UniProt
Cplane2	A2A825	p.Cys106Arg	rs27556364	missense variant	-	NC_000070.6:g.141218155T>C	UniProt
Cplane2	A2A825	p.Phe114Leu	rs264250383	missense variant	-	NC_000070.6:g.141218179T>C	UniProt
Cplane2	A2A825	p.Leu168Val	rs27556360	missense variant	-	NC_000070.6:g.141218649C>G	UniProt
Cplane2	A2A825	p.Ala187Glu	rs27556358	missense variant	-	NC_000070.6:g.141219869C>A	UniProt
Ptprf	A2A8L5	p.Pro3Leu	rs263390852	missense variant	-	NC_000070.6:g.118277432G>A	UniProt
Ptprf	A2A8L5	p.Arg9Lys	rs226285416	missense variant	-	NC_000070.6:g.118277414C>T	UniProt
Ptprf	A2A8L5	p.Gly182Ser	rs242502485	missense variant	-	NC_000070.6:g.118257513C>T	UniProt
Ptprf	A2A8L5	p.Ser240Asn	rs47387236	missense variant	-	NC_000070.6:g.118237969C>T	UniProt
Ptprf	A2A8L5	p.Gly361Ser	rs27476636	missense variant	-	NC_000070.6:g.118236363C>T	UniProt
Ptprf	A2A8L5	p.Asp633Glu	rs27476664	missense variant	-	NC_000070.6:g.118231706G>T	UniProt
Ptprf	A2A8L5	p.Asn960Asp	rs241328477	missense variant	-	NC_000070.6:g.118225931T>C	UniProt
Ptprf	A2A8L5	p.Val1184Ala	rs32074053	missense variant	-	NC_000070.6:g.118223842A>G	UniProt
Ptprf	A2A8L5	p.Asp1187Glu	rs27476708	missense variant	-	NC_000070.6:g.118223832G>C	UniProt
Ptprf	A2A8L5	p.Ile1841Val	rs13462902	missense variant	-	NC_000070.6:g.118210476T>C	UniProt
Prdm16	A2A935	p.Glu577Asp	rs238871210	missense variant	-	NC_000070.6:g.154341596C>A	UniProt
Prdm16	A2A935	p.Arg760Gln	rs32942538	missense variant	-	NC_000070.6:g.154341048C>T	UniProt
Prdm16	A2A935	p.Ala783Ser	rs242593136	missense variant	-	NC_000070.6:g.154340980C>A	UniProt
Kdf1	A2A9F4	p.Pro37Leu	rs228460121	missense variant	-	NC_000070.6:g.133528083C>T	UniProt
Kdf1	A2A9F4	p.Arg44Lys	rs27575517	missense variant	-	NC_000070.6:g.133528104G>A	UniProt
Kdf1	A2A9F4	p.Ala115Thr	rs243187704	missense variant	-	NC_000070.6:g.133528316G>A	UniProt
Kdf1	A2A9F4	p.Arg140Gly	rs234263484	missense variant	-	NC_000070.6:g.133528391C>G	UniProt
Kdf1	A2A9F4	p.Pro37Leu	rs228460121	missense variant	-	NC_000070.6:g.133528083C>T	UniProt
Kdf1	A2A9F4	p.Arg44Lys	rs27575517	missense variant	-	NC_000070.6:g.133528104G>A	UniProt
Kdf1	A2A9F4	p.Ala115Thr	rs243187704	missense variant	-	NC_000070.6:g.133528316G>A	UniProt
Kdf1	A2A9F4	p.Arg140Gly	rs234263484	missense variant	-	NC_000070.6:g.133528391C>G	UniProt
Chd7	A2AJK6	p.Pro168Thr	rs242918761	missense variant	-	NC_000070.6:g.8752006C>A	UniProt
Chd7	A2AJK6	p.Ala568Gly	rs27707902	missense variant	-	NC_000070.6:g.8785400C>G	UniProt
Chd7	A2AJK6	p.Ser604Pro	rs27707900	missense variant	-	NC_000070.6:g.8785507T>C	UniProt
Chd7	A2AJK6	p.Ser927Cys	rs256804428	missense variant	-	NC_000070.6:g.8826321C>G	UniProt
Chd7	A2AJK6	p.Met1564Ile	rs236668691	missense variant	-	NC_000070.6:g.8844584G>A	UniProt
Chd7	A2AJK6	p.Val1688Ala	rs234518587	missense variant	-	NC_000070.6:g.8847499T>C	UniProt
Chd7	A2AJK6	p.Glu1871Asp	rs258015976	missense variant	-	NC_000070.6:g.8853438G>C	UniProt
Chd7	A2AJK6	p.Pro2132Ser	rs27674517	missense variant	-	NC_000070.6:g.8855166C>T	UniProt
Chd7	A2AJK6	p.Gly2163Ser	rs226329465	missense variant	-	NC_000070.6:g.8855259G>A	UniProt
Chd7	A2AJK6	p.Leu2265Met	rs262101021	missense variant	-	NC_000070.6:g.8856721C>A	UniProt
Chd7	A2AJK6	p.Asp2330Glu	rs248660176	missense variant	-	NC_000070.6:g.8858565T>G	UniProt
Chd7	A2AJK6	p.Ala2342Thr	rs265542415	missense variant	-	NC_000070.6:g.8858599G>A	UniProt
Chd7	A2AJK6	p.Ala2365Val	rs228178348	missense variant	-	NC_000070.6:g.8858669C>T	UniProt
Chd7	A2AJK6	p.Ser2460Thr	rs251903500	missense variant	-	NC_000070.6:g.8859289T>A	UniProt
Chd7	A2AJK6	p.Ser2945Cys	rs244670555	missense variant	-	NC_000070.6:g.8866527A>T	UniProt
Chd7	A2AJK6	p.Pro168Thr	rs242918761	missense variant	-	NC_000070.6:g.8752006C>A	UniProt
Chd7	A2AJK6	p.Ala568Gly	rs27707902	missense variant	-	NC_000070.6:g.8785400C>G	UniProt
Chd7	A2AJK6	p.Ser604Pro	rs27707900	missense variant	-	NC_000070.6:g.8785507T>C	UniProt
Chd7	A2AJK6	p.Ser927Cys	rs256804428	missense variant	-	NC_000070.6:g.8826321C>G	UniProt
Chd7	A2AJK6	p.Met1564Ile	rs236668691	missense variant	-	NC_000070.6:g.8844584G>A	UniProt
Chd7	A2AJK6	p.Val1688Ala	rs234518587	missense variant	-	NC_000070.6:g.8847499T>C	UniProt
Chd7	A2AJK6	p.Glu1871Asp	rs258015976	missense variant	-	NC_000070.6:g.8853438G>C	UniProt
Chd7	A2AJK6	p.Pro2132Ser	rs27674517	missense variant	-	NC_000070.6:g.8855166C>T	UniProt
Chd7	A2AJK6	p.Gly2163Ser	rs226329465	missense variant	-	NC_000070.6:g.8855259G>A	UniProt
Chd7	A2AJK6	p.Leu2265Met	rs262101021	missense variant	-	NC_000070.6:g.8856721C>A	UniProt
Chd7	A2AJK6	p.Asp2330Glu	rs248660176	missense variant	-	NC_000070.6:g.8858565T>G	UniProt
Chd7	A2AJK6	p.Ala2342Thr	rs265542415	missense variant	-	NC_000070.6:g.8858599G>A	UniProt
Chd7	A2AJK6	p.Ala2365Val	rs228178348	missense variant	-	NC_000070.6:g.8858669C>T	UniProt
Chd7	A2AJK6	p.Ser2460Thr	rs251903500	missense variant	-	NC_000070.6:g.8859289T>A	UniProt
Chd7	A2AJK6	p.Ser2945Cys	rs244670555	missense variant	-	NC_000070.6:g.8866527A>T	UniProt
Lgr4	A2ARI4	p.Arg126His	rs212711387	missense variant	-	NC_000068.7:g.109991151G>A	UniProt
Lgr4	A2ARI4	p.Phe195Leu	rs228390396	missense variant	-	NC_000068.7:g.109996737C>G	UniProt
Lgr4	A2ARI4	p.Thr198Ser	rs250076230	missense variant	-	NC_000068.7:g.109996745C>G	UniProt
Lgr4	A2ARI4	p.Met344Val	rs253275837	missense variant	-	NC_000068.7:g.110002524A>G	UniProt
Lgr4	A2ARI4	p.Leu400Met	rs222626844	missense variant	-	NC_000068.7:g.110006520C>A	UniProt
Lgr4	A2ARI4	p.Thr501Pro	rs261755228	missense variant	-	NC_000068.7:g.110008587A>C	UniProt
Lgr4	A2ARI4	p.Ala552Ser	rs249254627	missense variant	-	NC_000068.7:g.110011325G>T	UniProt
Lgr4	A2ARI4	p.Val668Leu	rs27474729	missense variant	-	NC_000068.7:g.110011673G>T	UniProt
Lgr4	A2ARI4	p.Gly684Arg	rs262132217	missense variant	-	NC_000068.7:g.110011721G>A	UniProt
Lgr4	A2ARI4	p.Pro737Leu	rs256547462	missense variant	-	NC_000068.7:g.110011881C>T	UniProt
Lgr4	A2ARI4	p.Phe808Val	rs50811492	missense variant	-	NC_000068.7:g.110012093T>G	UniProt
Lrp2	A2ARV4	p.Thr308Met	rs237261911	missense variant	-	NC_000068.7:g.69533569G>A	UniProt
Lrp2	A2ARV4	p.Ser363Asn	rs249547290	missense variant	-	NC_000068.7:g.69527596C>T	UniProt
Lrp2	A2ARV4	p.Arg380Leu	rs27989204	missense variant	-	NC_000068.7:g.69527545C>A	UniProt
Lrp2	A2ARV4	p.Asp388Asn	rs27989205	missense variant	-	NC_000068.7:g.69527522C>T	UniProt
Lrp2	A2ARV4	p.Asn498Tyr	rs248390524	missense variant	-	NC_000068.7:g.69523991T>A	UniProt
Lrp2	A2ARV4	p.Glu691Lys	rs33043575	missense variant	-	NC_000068.7:g.69519956C>T	UniProt
Lrp2	A2ARV4	p.Lys849Thr	rs216474553	missense variant	-	NC_000068.7:g.69514227T>G	UniProt
Lrp2	A2ARV4	p.Val948Ile	rs28009397	missense variant	-	NC_000068.7:g.69510993C>T	UniProt
Lrp2	A2ARV4	p.Ser1136Leu	rs234395031	missense variant	-	NC_000068.7:g.69509159G>A	UniProt
Lrp2	A2ARV4	p.Ser1273Ala	rs28009428	missense variant	-	NC_000068.7:g.69506610A>C	UniProt
Lrp2	A2ARV4	p.Ala1372Val	rs28009438	missense variant	-	NC_000068.7:g.69505263G>A	UniProt
Lrp2	A2ARV4	p.Ile1448Val	rs28009446	missense variant	-	NC_000068.7:g.69503554T>C	UniProt
Lrp2	A2ARV4	p.Phe1468Ser	rs29681784	missense variant	-	NC_000068.7:g.69503493A>G	UniProt
Lrp2	A2ARV4	p.Asp1629Ala	rs27958071	missense variant	-	NC_000068.7:g.69501524T>G	UniProt
Lrp2	A2ARV4	p.Gly1662Asp	rs230719371	missense variant	-	NC_000068.7:g.69500726C>T	UniProt
Lrp2	A2ARV4	p.Ile1690Val	rs27958077	missense variant	-	NC_000068.7:g.69500643T>C	UniProt
Lrp2	A2ARV4	p.Ala1692Val	rs1132182332	missense variant	-	NC_000068.7:g.69500636G>A	UniProt
Lrp2	A2ARV4	p.Ala1718Thr	rs27958097	missense variant	-	NC_000068.7:g.69499270C>T	UniProt
Lrp2	A2ARV4	p.Arg1883Cys	rs27958171	missense variant	-	NC_000068.7:g.69492356G>A	UniProt
Lrp2	A2ARV4	p.Arg2057Cys	rs27958216	missense variant	-	NC_000068.7:g.69487937G>A	UniProt
Lrp2	A2ARV4	p.Gln2094Arg	rs258633244	missense variant	-	NC_000068.7:g.69487825T>C	UniProt
Lrp2	A2ARV4	p.Glu2289Asp	rs27958252	missense variant	-	NC_000068.7:g.69483519C>A	UniProt
Lrp2	A2ARV4	p.Pro2339Leu	rs258676993	missense variant	-	NC_000068.7:g.69483370G>A	UniProt
Lrp2	A2ARV4	p.Pro2365Ser	rs27958253	missense variant	-	NC_000068.7:g.69483293G>A	UniProt
Lrp2	A2ARV4	p.Met2421Ile	rs222613017	missense variant	-	NC_000068.7:g.69483123C>T	UniProt
Lrp2	A2ARV4	p.Met2421Thr	rs27958255	missense variant	-	NC_000068.7:g.69483124A>G	UniProt
Lrp2	A2ARV4	p.Val2468Phe	rs254575019	missense variant	-	NC_000068.7:g.69482854C>A	UniProt
Lrp2	A2ARV4	p.Ile2590Val	rs49433705	missense variant	-	NC_000068.7:g.69481365T>C	UniProt
Lrp2	A2ARV4	p.Phe2611Leu	rs27958277	missense variant	-	NC_000068.7:g.69481300A>C	UniProt
Lrp2	A2ARV4	p.Thr2647Ser	rs27958279	missense variant	-	NC_000068.7:g.69481193G>C	UniProt
Lrp2	A2ARV4	p.Pro2669Leu	rs27958280	missense variant	-	NC_000068.7:g.69481127G>A	UniProt
Lrp2	A2ARV4	p.Asn2724Asp	rs48574669	missense variant	-	NC_000068.7:g.69480058T>C	UniProt
Lrp2	A2ARV4	p.Ser2881Asn	rs264741067	missense variant	-	NC_000068.7:g.69477072C>T	UniProt
Lrp2	A2ARV4	p.Met2992Val	rs221039927	missense variant	-	NC_000068.7:g.69472410T>C	UniProt
Lrp2	A2ARV4	p.Thr2997Ala	rs239669498	missense variant	-	NC_000068.7:g.69472395T>C	UniProt
Lrp2	A2ARV4	p.Arg3017Leu	rs258523869	missense variant	-	NC_000068.7:g.69469657C>A	UniProt
Lrp2	A2ARV4	p.Gln3045Arg	rs217629649	missense variant	-	NC_000068.7:g.69469573T>C	UniProt
Lrp2	A2ARV4	p.Leu3050Phe	rs261297010	missense variant	-	NC_000068.7:g.69469559G>A	UniProt
Lrp2	A2ARV4	p.Thr3161Ser	rs233106210	missense variant	-	NC_000068.7:g.69467135T>A	UniProt
Lrp2	A2ARV4	p.Val3204Ile	rs212815925	missense variant	-	NC_000068.7:g.69467006C>T	UniProt
Lrp2	A2ARV4	p.Glu3241Lys	rs243482249	missense variant	-	NC_000068.7:g.69466895C>T	UniProt
Lrp2	A2ARV4	p.Gln3263Arg	rs46664250	missense variant	-	NC_000068.7:g.69466828T>C	UniProt
Lrp2	A2ARV4	p.Ser3630Leu	rs27974001	missense variant	-	NC_000068.7:g.69459605G>A	UniProt
Lrp2	A2ARV4	p.Ile3695Val	rs246481329	missense variant	-	NC_000068.7:g.69458438T>C	UniProt
Lrp2	A2ARV4	p.Arg3728Gln	rs211748965	missense variant	-	NC_000068.7:g.69456909C>T	UniProt
Lrp2	A2ARV4	p.Val4102Ile	rs227862230	missense variant	-	NC_000068.7:g.69439935C>T	UniProt
Lrp2	A2ARV4	p.Arg4134His	rs27974151	missense variant	-	NC_000068.7:g.69439838C>T	UniProt
Lrp2	A2ARV4	p.Ala4228Val	rs214786307	missense variant	-	NC_000068.7:g.69437557G>A	UniProt
Lrp2	A2ARV4	p.Asp4272Asn	rs255676699	missense variant	-	NC_000068.7:g.69437426C>T	UniProt
Lrp2	A2ARV4	p.Met4434Ile	rs218054012	missense variant	-	NC_000068.7:g.69432006C>T	UniProt
Lrp2	A2ARV4	p.Thr4533Ala	rs233964835	missense variant	-	NC_000068.7:g.69430289T>C	UniProt
Lrp2	A2ARV4	p.Pro4573Gln	rs13467455	missense variant	-	NC_000068.7:g.69428627G>T	UniProt
Lrp2	A2ARV4	p.Phe4647Tyr	rs1132971305	missense variant	-	NC_000068.7:g.69425688A>T	UniProt
Lrp2	A2ARV4	p.Val4660Gly	rs1133925170	missense variant	-	NC_000068.7:g.69425649A>C	UniProt
Lrp2	A2ARV4	p.Ter4661GlyLeuCseGluUnkThrThrGluArgUnkUnk	rs1132631670	stop lost	-	NC_000068.7:g.69425647A>C	UniProt
Mtr	A6H5Y3	p.Ile64Val	rs48994547	missense variant	-	NC_000079.6:g.12253784T>C	UniProt
Mtr	A6H5Y3	p.Tyr151Asp	rs248752035	missense variant	-	NC_000079.6:g.12247905A>C	UniProt
Mtr	A6H5Y3	p.Glu321Gly	rs215033881	missense variant	-	NC_000079.6:g.12235534T>C	UniProt
Mtr	A6H5Y3	p.Ala392Val	rs211716900	missense variant	-	NC_000079.6:g.12231063G>A	UniProt
Mtr	A6H5Y3	p.Glu653Lys	rs236605522	missense variant	-	NC_000079.6:g.12216860C>T	UniProt
Mtr	A6H5Y3	p.Phe928Leu	rs49073965	missense variant	-	NC_000079.6:g.12197946A>G	UniProt
Mtr	A6H5Y3	p.Ala989Thr	rs51625563	missense variant	-	NC_000079.6:g.12195244C>T	UniProt
Mtr	A6H5Y3	p.Arg1142Gly	rs49826816	missense variant	-	NC_000079.6:g.12189485T>C	UniProt
Mtr	A6H5Y3	p.Asp1253Glu	rs231251146	missense variant	-	NC_000079.6:g.12187008G>C	UniProt
Skor2	A7M7C7	p.Pro29Ser	rs221134864	missense variant	-	NC_000084.6:g.76858669C>T	UniProt
Skor2	A7M7C7	p.Ser378Asn	rs252982462	missense variant	-	NC_000084.6:g.76859717G>A	UniProt
Skor2	A7M7C7	p.Ala522Val	rs252501202	missense variant	-	NC_000084.6:g.76860149C>T	UniProt
Skor2	A7M7C7	p.Ser581Pro	rs245573680	missense variant	-	NC_000084.6:g.76860325T>C	UniProt
Skor2	A7M7C7	p.Arg768Gly	rs248996746	missense variant	-	NC_000084.6:g.76860886C>G	UniProt
Ptprs	B0V2N1	p.His872Gln	rs1133671636	missense variant	-	NC_000083.6:g.56425739G>C	UniProt
Ptprs	B0V2N1	p.His872Asp	rs1132366059	missense variant	-	NC_000083.6:g.56425741G>C	UniProt
Eif2b3	B1AUN2	p.Pro151Thr	rs251129594	missense variant	-	NC_000070.6:g.117044592C>A	UniProt
Eif2b3	B1AUN2	p.Glu178Ter	rs1135206711	stop gained	-	NC_000070.6:g.117052801G>T	UniProt
Eif2b3	B1AUN2	p.Ser342Pro	rs218216842	missense variant	-	NC_000070.6:g.117068792T>C	UniProt
Evc	D3YUJ0	p.His90Arg	rs231263090	missense variant	-	NC_000071.6:g.37323700T>C	UniProt
Evc	D3YUJ0	p.Met108Ile	rs32643633	missense variant	-	NC_000071.6:g.37322134C>T	UniProt
Evc	D3YUJ0	p.Glu128Asp	rs248080870	missense variant	-	NC_000071.6:g.37322074C>A	UniProt
Evc	D3YUJ0	p.Met152Val	rs227900434	missense variant	-	NC_000071.6:g.37320349T>C	UniProt
Evc	D3YUJ0	p.Ser199Ala	rs32646971	missense variant	-	NC_000071.6:g.37319078A>C	UniProt
Evc	D3YUJ0	p.Thr231Asn	rs214941635	missense variant	-	NC_000071.6:g.37318981G>T	UniProt
Evc	D3YUJ0	p.Thr264Met	rs29560833	missense variant	-	NC_000071.6:g.37318305G>A	UniProt
Evc	D3YUJ0	p.Arg294Lys	rs233873744	missense variant	-	NC_000071.6:g.37318215C>T	UniProt
Evc	D3YUJ0	p.Ser295Asn	rs265917582	missense variant	-	NC_000071.6:g.37318212C>T	UniProt
Evc	D3YUJ0	p.Phe296Leu	rs29563168	missense variant	-	NC_000071.6:g.37318210A>G	UniProt
Evc	D3YUJ0	p.Leu310Phe	rs238576216	missense variant	-	NC_000071.6:g.37318168G>A	UniProt
Evc	D3YUJ0	p.Arg334Ter	rs247415390	stop gained	-	NC_000071.6:g.37316357G>A	UniProt
Evc	D3YUJ0	p.Thr370Ser	rs220296114	missense variant	-	NC_000071.6:g.37314495G>C	UniProt
Evc	D3YUJ0	p.Ala375Gly	rs32644046	missense variant	-	NC_000071.6:g.37314480G>C	UniProt
Evc	D3YUJ0	p.Thr379Ile	rs234632865	missense variant	-	NC_000071.6:g.37314468G>A	UniProt
Evc	D3YUJ0	p.Gly441Ser	rs235849113	missense variant	-	NC_000071.6:g.37313463C>T	UniProt
Evc	D3YUJ0	p.Glu462Lys	rs264941833	missense variant	-	NC_000071.6:g.37311714C>T	UniProt
Evc	D3YUJ0	p.Ala550Val	rs251091804	missense variant	-	NC_000071.6:g.37310285G>A	UniProt
Evc	D3YUJ0	p.Pro657Leu	rs257720115	missense variant	-	NC_000071.6:g.37307273G>A	UniProt
Evc	D3YUJ0	p.Leu725Phe	rs47028246	missense variant	-	NC_000071.6:g.37301636G>A	UniProt
Evc	D3YUJ0	p.Lys746Asn	rs29677154	missense variant	-	NC_000071.6:g.37301571C>A	UniProt
Evc	D3YUJ0	p.Cys789Tyr	rs219147037	missense variant	-	NC_000071.6:g.37300809C>T	UniProt
Evc	D3YUJ0	p.Asn809Thr	rs254112138	missense variant	-	NC_000071.6:g.37300749T>G	UniProt
Evc	D3YUJ0	p.Tyr815Cys	rs579628484	missense variant	-	NC_000071.6:g.37297233T>C	UniProt
Evc	D3YUJ0	p.Arg828Ser	rs239378928	missense variant	-	NC_000071.6:g.37297195G>T	UniProt
Mn1	D3YWE6	p.Gly138Ser	rs29543038	missense variant	-	NC_000071.6:g.111418577G>A	UniProt
Mn1	D3YWE6	p.Pro271Ala	rs266059362	missense variant	-	NC_000071.6:g.111418976C>G	UniProt
Mn1	D3YWE6	p.Gln294His	rs29732832	missense variant	-	NC_000071.6:g.111419047G>T	UniProt
Mn1	D3YWE6	p.Met408Leu	rs213049283	missense variant	-	NC_000071.6:g.111419387A>T	UniProt
Mn1	D3YWE6	p.Ala680Ser	rs263342480	missense variant	-	NC_000071.6:g.111420203G>T	UniProt
Mn1	D3YWE6	p.Ala1007Val	rs257669570	missense variant	-	NC_000071.6:g.111421185C>T	UniProt
Mn1	D3YWE6	p.Val1101Met	rs13478461	missense variant	-	NC_000071.6:g.111421466G>A	UniProt
Cdh2	D3YYT0	p.Ala96Thr	rs242437242	missense variant	-	NC_000084.6:g.16648576C>T	UniProt
Ift140	E9PY46	p.Val217Met	rs243519864	missense variant	-	NC_000083.6:g.25028818G>A	UniProt
Ift140	E9PY46	p.Val258Met	rs222120353	missense variant	-	NC_000083.6:g.25028941G>A	UniProt
Ift140	E9PY46	p.Val259Leu	rs240820978	missense variant	-	NC_000083.6:g.25028944G>T	UniProt
Ift140	E9PY46	p.Lys276Glu	rs864292009	missense variant	-	NC_000083.6:g.25032100A>G	UniProt
Ift140	E9PY46	p.Gly288Asp	rs226273342	missense variant	-	NC_000083.6:g.25032137G>A	UniProt
Ift140	E9PY46	p.Asn344His	rs254028198	missense variant	-	NC_000083.6:g.25033906A>C	UniProt
Ift140	E9PY46	p.His441Arg	rs258422281	missense variant	-	NC_000083.6:g.25035869A>G	UniProt
Ift140	E9PY46	p.Asn592Asp	rs223487349	missense variant	-	NC_000083.6:g.25048403A>G	UniProt
Ift140	E9PY46	p.Lys598Arg	rs107903885	missense variant	-	NC_000083.6:g.25048422A>G	UniProt
Ift140	E9PY46	p.Phe612Leu	rs218179805	missense variant	-	NC_000083.6:g.25048465C>A	UniProt
Ift140	E9PY46	p.Thr624Ala	rs33778632	missense variant	-	NC_000083.6:g.25048499A>G	UniProt
Ift140	E9PY46	p.Lys641Gln	rs216724720	missense variant	-	NC_000083.6:g.25050293A>C	UniProt
Ift140	E9PY46	p.Gln675Glu	rs240067740	missense variant	-	NC_000083.6:g.25050395C>G	UniProt
Ift140	E9PY46	p.Arg682Cys	rs250456445	missense variant	-	NC_000083.6:g.25050416C>T	UniProt
Ift140	E9PY46	p.Arg743Lys	rs236568162	missense variant	-	NC_000083.6:g.25055583G>A	UniProt
Ift140	E9PY46	p.Ile855Lys		Missense	-	-	UniProt
Ift140	E9PY46	p.Ser923Ile	rs245030449	missense variant	-	NC_000083.6:g.25088060G>T	UniProt
Ift140	E9PY46	p.Phe933Leu	rs107807232	missense variant	-	NC_000083.6:g.25088556T>G	UniProt
Ift140	E9PY46	p.Gly1051Ser	rs33783462	missense variant	-	NC_000083.6:g.25090648G>A	UniProt
Ift140	E9PY46	p.Met1223Lys	rs864298544	missense variant	-	NC_000083.6:g.25092772T>A	UniProt
Ift140	E9PY46	p.Ile1266Val	rs864262637	missense variant	-	NC_000083.6:g.25092900A>G	UniProt
Ift140	E9PY46	p.Thr1320Ala	rs249297874	missense variant	-	NC_000083.6:g.25093144A>G	UniProt
Ift140	E9PY46	p.Asn1322Ser	rs219153312	missense variant	-	NC_000083.6:g.25093151A>G	UniProt
Ift140	E9PY46	p.Arg1442His	rs229466579	missense variant	-	NC_000083.6:g.25098868G>A	UniProt
Ift140	E9PY46	p.Val1460Met	rs33779309	missense variant	-	NC_000083.6:g.25098921G>A	UniProt
Ryr1	E9PZQ0	p.Gly686Ser	rs217085160	missense variant	-	NC_000073.6:g.29103551C>T	UniProt
Ryr1	E9PZQ0	p.Ala1118Val	rs47114500	missense variant	-	NC_000073.6:g.29096111G>A	UniProt
Ryr1	E9PZQ0	p.Gly1198Val	rs1133975953	missense variant	-	NC_000073.6:g.29095240C>A	UniProt
Ryr1	E9PZQ0	p.Gly1201Ala	rs1133114232	missense variant	-	NC_000073.6:g.29095231C>G	UniProt
Ryr1	E9PZQ0	p.His1301Arg	rs1132225114	missense variant	-	NC_000073.6:g.29094140T>C	UniProt
Ryr1	E9PZQ0	p.Ala1380Ser	rs51295578	missense variant	-	NC_000073.6:g.29093904C>A	UniProt
Ryr1	E9PZQ0	p.Ala1698Val	rs229150648	missense variant	-	NC_000073.6:g.29086172G>A	UniProt
Ryr1	E9PZQ0	p.Val1879Glu	rs236648686	missense variant	-	NC_000073.6:g.29083552A>T	UniProt
Ryr1	E9PZQ0	p.Asp2018Glu	rs220715140	missense variant	-	NC_000073.6:g.29082509A>C	UniProt
Ryr1	E9PZQ0	p.Arg2029Gln	rs49548921	missense variant	-	NC_000073.6:g.29082477C>T	UniProt
Ryr1	E9PZQ0	p.Val2147Leu	rs50440776	missense variant	-	NC_000073.6:g.29078631C>G	UniProt
Ryr1	E9PZQ0	p.Gly4415Cys	rs230255599	missense variant	-	NC_000073.6:g.29019660C>A	UniProt
Ryr1	E9PZQ0	p.Glu4480Gly	rs223344377	missense variant	-	NC_000073.6:g.29018823T>C	UniProt
Ryr1	E9PZQ0	p.Gly4531Arg	rs247712983	missense variant	-	NC_000073.6:g.29017953C>T	UniProt
Cecr2	E9Q2Z1	p.Ala46Thr	rs31719897	missense variant	-	NC_000072.6:g.120720877G>A	UniProt
Cecr2	E9Q2Z1	p.Ser174Ala	rs1132941495	missense variant	-	NC_000072.6:g.120733845T>G	UniProt
Cecr2	E9Q2Z1	p.Cys181Ser	rs31725776	missense variant	-	NC_000072.6:g.120733866T>A	UniProt
Cecr2	E9Q2Z1	p.Cys181Tyr	rs228573444	missense variant	-	NC_000072.6:g.120733867G>A	UniProt
Cecr2	E9Q2Z1	p.Asn475Thr	rs252952568	missense variant	-	NC_000072.6:g.120755572A>C	UniProt
Cecr2	E9Q2Z1	p.His605Asn	rs215678212	missense variant	-	NC_000072.6:g.120756866C>A	UniProt
Cecr2	E9Q2Z1	p.Arg611His	rs234084638	missense variant	-	NC_000072.6:g.120756885G>A	UniProt
Cecr2	E9Q2Z1	p.Asp643Asn	rs243651863	missense variant	-	NC_000072.6:g.120757608G>A	UniProt
Cecr2	E9Q2Z1	p.Ile669Met	rs234051809	missense variant	-	NC_000072.6:g.120757688A>G	UniProt
Cecr2	E9Q2Z1	p.Val916Gly	rs253462507	missense variant	-	NC_000072.6:g.120758551T>G	UniProt
Cecr2	E9Q2Z1	p.Thr933Ala	rs242147182	missense variant	-	NC_000072.6:g.120758601A>G	UniProt
Cecr2	E9Q2Z1	p.Thr933Ser	rs242147182	missense variant	-	NC_000072.6:g.120758601A>T	UniProt
Cecr2	E9Q2Z1	p.Pro942Thr	rs220189472	missense variant	-	NC_000072.6:g.120758628C>A	UniProt
Cecr2	E9Q2Z1	p.Gly1064Ser	rs237963828	missense variant	-	NC_000072.6:g.120761503G>A	UniProt
Cecr2	E9Q2Z1	p.Ala1100Gly	rs31732164	missense variant	-	NC_000072.6:g.120761612C>G	UniProt
Cecr2	E9Q2Z1	p.Gln1180Arg	rs233014700	missense variant	-	NC_000072.6:g.120761852A>G	UniProt
Cecr2	E9Q2Z1	p.Ala1324Ser	rs240685511	missense variant	-	NC_000072.6:g.120762283G>T	UniProt
Cecr2	E9Q2Z1	p.Gly1371Asp	rs261235823	missense variant	-	NC_000072.6:g.120762425G>A	UniProt
Cecr2	E9Q2Z1	p.Leu1372Ile	rs221969644	missense variant	-	NC_000072.6:g.120762427C>A	UniProt
Cecr2	E9Q2Z1	p.Leu1372Val	rs221969644	missense variant	-	NC_000072.6:g.120762427C>G	UniProt
Cecr2	E9Q2Z1	p.Asp1376Gly	rs239137084	missense variant	-	NC_000072.6:g.120762440A>G	UniProt
Sec16a	E9QAT4	p.Pro30Thr	rs27201853	missense variant	-	NC_000068.7:g.26441914G>T	UniProt
Sec16a	E9QAT4	p.Met185Thr	rs27201854	missense variant	-	NC_000068.7:g.26441448A>G	UniProt
Sec16a	E9QAT4	p.Pro204Ser	rs27201856	missense variant	-	NC_000068.7:g.26441392G>A	UniProt
Sec16a	E9QAT4	p.Ser271Phe	rs233090362	missense variant	-	NC_000068.7:g.26441190G>A	UniProt
Sec16a	E9QAT4	p.Lys286Glu	rs234118048	missense variant	-	NC_000068.7:g.26441146T>C	UniProt
Sec16a	E9QAT4	p.Ala344Glu	rs27201857	missense variant	-	NC_000068.7:g.26440971G>T	UniProt
Sec16a	E9QAT4	p.His354Gln	rs224250361	missense variant	-	NC_000068.7:g.26440940A>T	UniProt
Sec16a	E9QAT4	p.Leu386Pro	rs226653525	missense variant	-	NC_000068.7:g.26440845A>G	UniProt
Sec16a	E9QAT4	p.Asn391Asp	rs27201859	missense variant	-	NC_000068.7:g.26440831T>C	UniProt
Sec16a	E9QAT4	p.Ala430Val	rs246996233	missense variant	-	NC_000068.7:g.26440713G>A	UniProt
Sec16a	E9QAT4	p.Gln661Glu	rs27201860	missense variant	-	NC_000068.7:g.26440021G>C	UniProt
Sec16a	E9QAT4	p.Gln661Arg	rs27201861	missense variant	-	NC_000068.7:g.26440020T>C	UniProt
Sec16a	E9QAT4	p.Asn713His	rs27201863	missense variant	-	NC_000068.7:g.26439865T>G	UniProt
Sec16a	E9QAT4	p.Pro726Ser	rs233137762	missense variant	-	NC_000068.7:g.26439826G>A	UniProt
Sec16a	E9QAT4	p.Asn895Ile	rs27201864	missense variant	-	NC_000068.7:g.26439318T>A	UniProt
Sec16a	E9QAT4	p.Met1026Leu	rs50804939	missense variant	-	NC_000068.7:g.26438926T>G	UniProt
Sec16a	E9QAT4	p.Met1026Ile	rs46054709	missense variant	-	NC_000068.7:g.26438924C>T	UniProt
Sec16a	E9QAT4	p.Ser1094Ala	rs213593483	missense variant	-	NC_000068.7:g.26438722A>C	UniProt
Sec16a	E9QAT4	p.Leu1155Pro	rs27201867	missense variant	-	NC_000068.7:g.26438538A>G	UniProt
Sec16a	E9QAT4	p.Met1731Val	rs216946670	missense variant	-	NC_000068.7:g.26425812T>C	UniProt
Sec16a	E9QAT4	p.Val1898Met	rs583524143	missense variant	-	NC_000068.7:g.26423900C>T	UniProt
Sec16a	E9QAT4	p.Pro2008Leu	rs27201920	missense variant	-	NC_000068.7:g.26422124G>A	UniProt
Sec16a	E9QAT4	p.Pro2038Leu	rs216313958	missense variant	-	NC_000068.7:g.26422034G>A	UniProt
Sec16a	E9QAT4	p.Ser2104Pro	rs236491298	missense variant	-	NC_000068.7:g.26419683A>G	UniProt
Sec16a	E9QAT4	p.Gly2264Asp	rs255929336	missense variant	-	NC_000068.7:g.26415368C>T	UniProt
Sec16a	E9QAT4	p.Gln2274His	rs227039202	missense variant	-	NC_000068.7:g.26415337C>A	UniProt
Sec16a	E9QAT4	p.Gly2323Val	rs1134221176	missense variant	-	NC_000068.7:g.26412873C>A	UniProt
Sec16a	E9QAT4	p.Tyr2328Phe	rs242577428	missense variant	-	NC_000068.7:g.26412858T>A	UniProt
Jarid2	G3UZT8	p.Val181Ile	rs386871329	missense variant	-	NC_000079.6:g.44884865G>A	UniProt
Jarid2	G3UZT8	p.Ala194Thr	rs230031105	missense variant	-	NC_000079.6:g.44896277G>A	UniProt
Jarid2	G3UZT8	p.His201Gln	rs262576446	missense variant	-	NC_000079.6:g.44896300C>A	UniProt
Jarid2	G3UZT8	p.Pro218His	rs248827245	missense variant	-	NC_000079.6:g.44896350C>A	UniProt
Jarid2	G3UZT8	p.Gly229Val	rs258540489	missense variant	-	NC_000079.6:g.44896383G>T	UniProt
Jarid2	G3UZT8	p.His327Asn	rs216362303	missense variant	-	NC_000079.6:g.44902412C>A	UniProt
Jarid2	G3UZT8	p.Leu439Pro	rs213697403	missense variant	-	NC_000079.6:g.44902749T>C	UniProt
Sclt1	G5E861	p.Ser36Ile	rs584412192	missense variant	-	NC_000069.6:g.41730915C>A	UniProt
Sclt1	G5E861	p.Thr145Ile	rs1132549753	missense variant	-	NC_000069.6:g.41711198G>A	UniProt
Sclt1	G5E861	p.Leu148Met	rs1133583662	missense variant	-	NC_000069.6:g.41711190G>T	UniProt
Sclt1	G5E861	p.Trp151Leu	rs1132385110	missense variant	-	NC_000069.6:g.41711180C>A	UniProt
Sclt1	G5E861	p.Trp151Cys	rs1133877844	missense variant	-	NC_000069.6:g.41711179C>G	UniProt
Sclt1	G5E861	p.Ala154Thr	rs1134546121	missense variant	-	NC_000069.6:g.41711172C>T	UniProt
Sclt1	G5E861	p.Glu157Asp	rs1134188367	missense variant	-	NC_000069.6:g.41711161C>G	UniProt
Sclt1	G5E861	p.Asp299Asn	rs256029390	missense variant	-	NC_000069.6:g.41675480C>T	UniProt
Sclt1	G5E861	p.Ser306Leu	rs257144737	missense variant	-	NC_000069.6:g.41675458G>A	UniProt
Sclt1	G5E861	p.Ser306Thr	rs49616354	missense variant	-	NC_000069.6:g.41675459A>T	UniProt
Sclt1	G5E861	p.Thr403Ala	rs52025342	missense variant	-	NC_000069.6:g.41667122T>C	UniProt
Sclt1	G5E861	p.Met485Ile	rs48288579	missense variant	-	NC_000069.6:g.41657381C>T	UniProt
Sclt1	G5E861	p.Ser569Arg	rs47737069	missense variant	-	NC_000069.6:g.41647567A>C	UniProt
Tcof1	O08784	p.Glu66Gln	rs222030670	missense variant	-	NC_000084.6:g.60843340C>G	UniProt
Tcof1	O08784	p.Leu71Pro	rs36407673	missense variant	-	NC_000084.6:g.60843324A>G	UniProt
Tcof1	O08784	p.Asp89Glu	rs36821348	missense variant	-	NC_000084.6:g.60843269A>C	UniProt
Tcof1	O08784	p.Lys92Glu	rs252247483	missense variant	-	NC_000084.6:g.60843262T>C	UniProt
Tcof1	O08784	p.Ala101Thr	rs37533881	missense variant	-	NC_000084.6:g.60843235C>T	UniProt
Tcof1	O08784	p.Val110Ile	rs257884476	missense variant	-	NC_000084.6:g.60839616C>T	UniProt
Tcof1	O08784	p.Thr129Lys	rs36447384	missense variant	-	NC_000084.6:g.60838848G>T	UniProt
Tcof1	O08784	p.Ala298Val	rs38830754	missense variant	-	NC_000084.6:g.60833625G>A	UniProt
Tcof1	O08784	p.Asp308Ala	rs239464670	missense variant	-	NC_000084.6:g.60833595T>G	UniProt
Tcof1	O08784	p.Arg375Trp	rs216055553	missense variant	-	NC_000084.6:g.60832906G>A	UniProt
Tcof1	O08784	p.Ala383Thr	rs259689401	missense variant	-	NC_000084.6:g.60832882C>T	UniProt
Tcof1	O08784	p.Pro409Ser	rs235235319	missense variant	-	NC_000084.6:g.60832804G>A	UniProt
Tcof1	O08784	p.Ala427Thr	rs261733495	missense variant	-	NC_000084.6:g.60832750C>T	UniProt
Tcof1	O08784	p.Ala428Ser	rs254654506	missense variant	-	NC_000084.6:g.60832747C>A	UniProt
Tcof1	O08784	p.Arg475Lys	rs247310801	missense variant	-	NC_000084.6:g.60832509C>T	UniProt
Tcof1	O08784	p.Val484Ala	rs240824843	missense variant	-	NC_000084.6:g.60832482A>G	UniProt
Tcof1	O08784	p.Ser488Cys	rs30130774	missense variant	-	NC_000084.6:g.60832471T>A	UniProt
Tcof1	O08784	p.Ala490Glu	rs30022269	missense variant	-	NC_000084.6:g.60832464G>T	UniProt
Tcof1	O08784	p.Gly496Glu	rs216091464	missense variant	-	NC_000084.6:g.60832446C>T	UniProt
Tcof1	O08784	p.Gly498Val	rs263826855	missense variant	-	NC_000084.6:g.60832440C>A	UniProt
Tcof1	O08784	p.Lys502Arg	rs240640680	missense variant	-	NC_000084.6:g.60832428T>C	UniProt
Tcof1	O08784	p.Leu507Pro	rs581410120	missense variant	-	NC_000084.6:g.60832296A>G	UniProt
Tcof1	O08784	p.Arg514Gly	rs30310488	missense variant	-	NC_000084.6:g.60832276T>C	UniProt
Tcof1	O08784	p.Gly527Asp	rs263475461	missense variant	-	NC_000084.6:g.60832236C>T	UniProt
Tcof1	O08784	p.Ser536Pro	rs233768746	missense variant	-	NC_000084.6:g.60832210A>G	UniProt
Tcof1	O08784	p.Thr572Ala	rs30165718	missense variant	-	NC_000084.6:g.60831932T>C	UniProt
Tcof1	O08784	p.Ala584Val	rs221477299	missense variant	-	NC_000084.6:g.60831895G>A	UniProt
Tcof1	O08784	p.Ala597Pro	rs260440664	missense variant	-	NC_000084.6:g.60831857C>G	UniProt
Tcof1	O08784	p.Ala616Thr	rs212169087	missense variant	-	NC_000084.6:g.60831800C>T	UniProt
Tcof1	O08784	p.Val642Met	rs261305395	missense variant	-	NC_000084.6:g.60831629C>T	UniProt
Tcof1	O08784	p.Ser671Ile	rs236570176	missense variant	-	NC_000084.6:g.60831541C>A	UniProt
Tcof1	O08784	p.Val732Met	rs215234618	missense variant	-	NC_000084.6:g.60828784C>T	UniProt
Tcof1	O08784	p.Ala735Ser	rs258512280	missense variant	-	NC_000084.6:g.60828775C>A	UniProt
Tcof1	O08784	p.Ala735Val	rs233289749	missense variant	-	NC_000084.6:g.60828774G>A	UniProt
Tcof1	O08784	p.Ala740Thr	rs266175077	missense variant	-	NC_000084.6:g.60828760C>T	UniProt
Tcof1	O08784	p.Ala751Thr	rs249378117	missense variant	-	NC_000084.6:g.60828727C>T	UniProt
Tcof1	O08784	p.Thr753Ala	rs224692129	missense variant	-	NC_000084.6:g.60828721T>C	UniProt
Tcof1	O08784	p.Pro804Ser	rs255869653	missense variant	-	NC_000084.6:g.60828472G>A	UniProt
Tcof1	O08784	p.Pro816Thr	rs219816355	missense variant	-	NC_000084.6:g.60828436G>T	UniProt
Tcof1	O08784	p.Pro816Ser	rs219816355	missense variant	-	NC_000084.6:g.60828436G>A	UniProt
Tcof1	O08784	p.Ser824Asn	rs1134408304	missense variant	-	NC_000084.6:g.60828411C>T	UniProt
Tcof1	O08784	p.Ser853Gly	rs29877421	missense variant	-	NC_000084.6:g.60822951T>C	UniProt
Tcof1	O08784	p.Gly863Glu	rs231093193	missense variant	-	NC_000084.6:g.60822920C>T	UniProt
Tcof1	O08784	p.Asn966Lys	rs254121682	missense variant	-	NC_000084.6:g.60819539G>C	UniProt
Tcof1	O08784	p.Arg988Gly	rs232021086	missense variant	-	NC_000084.6:g.60819475T>C	UniProt
Tcof1	O08784	p.Pro1018Gln	rs230341762	missense variant	-	NC_000084.6:g.60818941G>T	UniProt
Tcof1	O08784	p.Gly1054Asp	rs215054890	missense variant	-	NC_000084.6:g.60818182C>T	UniProt
Tcof1	O08784	p.Ser1073Pro	rs252382186	missense variant	-	NC_000084.6:g.60818126A>G	UniProt
Tcof1	O08784	p.Ala1096Ser	rs51688164	missense variant	-	NC_000084.6:g.60818057C>A	UniProt
Tcof1	O08784	p.Leu1121Pro	rs29820207	missense variant	-	NC_000084.6:g.60816480A>G	UniProt
Tcof1	O08784	p.Ser1124Ile	rs260205422	missense variant	-	NC_000084.6:g.60816471C>A	UniProt
Tcof1	O08784	p.Pro1199Ser	rs252696115	missense variant	-	NC_000084.6:g.60816247G>A	UniProt
Tcof1	O08784	p.Lys1202Asn	rs222691383	missense variant	-	NC_000084.6:g.60816236C>A	UniProt
Tcof1	O08784	p.Val1209Ala	rs30174877	missense variant	-	NC_000084.6:g.60816216A>G	UniProt
Tcof1	O08784	p.Ala1226Thr	rs37589142	missense variant	-	NC_000084.6:g.60816166C>T	UniProt
Tcof1	O08784	p.Ala1316Val	rs228420544	missense variant	-	NC_000084.6:g.60814558G>A	UniProt
Mnt	O08789	p.Leu109Pro	rs233194126	missense variant	-	NC_000077.6:g.74836615T>C	UniProt
Mnt	O08789	p.Thr138Pro	rs6247245	missense variant	-	NC_000077.6:g.74836701A>C	UniProt
Rfng	O09009	p.Ser2Asn	rs232818587	missense variant	-	NC_000077.6:g.120784158C>T	UniProt
Rfng	O09009	p.Gly53Val	rs215128569	missense variant	-	NC_000077.6:g.120784005C>A	UniProt
Rfng	O09009	p.Asp54Ala	rs218929292	missense variant	-	NC_000077.6:g.120784002T>G	UniProt
Rfng	O09009	p.Asp54Tyr	rs239398307	missense variant	-	NC_000077.6:g.120784003C>A	UniProt
Rfng	O09009	p.Met104Leu	rs226512269	missense variant	-	NC_000077.6:g.120783744T>G	UniProt
Rfng	O09009	p.Gly107Asp	rs229129905	missense variant	-	NC_000077.6:g.120783370C>T	UniProt
Rfng	O09009	p.Ala251Thr	rs244354994	missense variant	-	NC_000077.6:g.120782463C>T	UniProt
Wrn	O09053	p.Gln19Lys	rs257672681	missense variant	-	NC_000074.6:g.33353318G>T	UniProt
Wrn	O09053	p.Ile82Val	rs231425441	missense variant	-	NC_000074.6:g.33343640T>C	UniProt
Wrn	O09053	p.Ser101Asn	rs32686799	missense variant	-	NC_000074.6:g.33343582C>T	UniProt
Wrn	O09053	p.Ala228Val	rs47834680	missense variant	-	NC_000074.6:g.33334199G>A	UniProt
Wrn	O09053	p.Ser250Leu	rs30204483	missense variant	-	NC_000074.6:g.33329174G>A	UniProt
Wrn	O09053	p.Lys337Thr	rs1134739631	missense variant	-	NC_000074.6:g.33324405T>G	UniProt
Wrn	O09053	p.Val361Gly	rs235081524	missense variant	-	NC_000074.6:g.33324333A>C	UniProt
Wrn	O09053	p.Met439Thr	rs1135015573	missense variant	-	NC_000074.6:g.33322301A>G	UniProt
Wrn	O09053	p.Met441Thr	rs1134044238	missense variant	-	NC_000074.6:g.33322295A>G	UniProt
Wrn	O09053	p.Val452Met	rs50932912	missense variant	-	NC_000074.6:g.33320584C>T	UniProt
Wrn	O09053	p.Thr459Lys	rs47608971	missense variant	-	NC_000074.6:g.33320562G>T	UniProt
Wrn	O09053	p.Arg468Cys	rs46191284	missense variant	-	NC_000074.6:g.33320536G>A	UniProt
Wrn	O09053	p.Val595Phe	rs1132708826	missense variant	-	NC_000074.6:g.33316351C>A	UniProt
Wrn	O09053	p.Gln619Lys	rs30199731	missense variant	-	NC_000074.6:g.33310729G>T	UniProt
Wrn	O09053	p.Ser622Cys	rs30199728	missense variant	-	NC_000074.6:g.33310719G>C	UniProt
Wrn	O09053	p.Ser723Asn	rs263094782	missense variant	-	NC_000074.6:g.33294904C>T	UniProt
Wrn	O09053	p.Leu844His	rs46227402	missense variant	-	NC_000074.6:g.33285233A>T	UniProt
Wrn	O09053	p.Asp850Asn	rs211824091	missense variant	-	NC_000074.6:g.33285216C>T	UniProt
Wrn	O09053	p.Ser871Asn	rs30197347	missense variant	-	NC_000074.6:g.33285152C>T	UniProt
Wrn	O09053	p.Phe942Ile	rs1134616702	missense variant	-	NC_000074.6:g.33280810A>T	UniProt
Wrn	O09053	p.Ser1021Leu	rs13479691	missense variant	-	NC_000074.6:g.33268792G>A	UniProt
Wrn	O09053	p.Gln1022Lys	rs251916220	missense variant	-	NC_000074.6:g.33268790G>T	UniProt
Wrn	O09053	p.Pro1050Ser	rs230969097	missense variant	-	NC_000074.6:g.33267841G>A	UniProt
Wrn	O09053	p.Glu1051Gly	rs256162785	missense variant	-	NC_000074.6:g.33267837T>C	UniProt
Wrn	O09053	p.Thr1052Met	rs238254284	missense variant	-	NC_000074.6:g.33267834G>A	UniProt
Wrn	O09053	p.Glu1182Gly	rs48550002	missense variant	-	NC_000074.6:g.33255535T>C	UniProt
Wrn	O09053	p.Asp1217Gly	rs50627929	missense variant	-	NC_000074.6:g.33251769T>C	UniProt
Wrn	O09053	p.Ala1252Val	rs33057240	missense variant	-	NC_000074.6:g.33249044G>A	UniProt
Wrn	O09053	p.Ala1252Thr	rs240112556	missense variant	-	NC_000074.6:g.33249045C>T	UniProt
Wrn	O09053	p.Leu1308Phe	rs46514474	missense variant	-	NC_000074.6:g.33241108T>G	UniProt
Wrn	O09053	p.Leu1308Ile	rs32751602	missense variant	-	NC_000074.6:g.33241110A>T	UniProt
Wrn	O09053	p.Ala1356Val	rs49782088	missense variant	-	NC_000074.6:g.33240965G>A	UniProt
Wrn	O09053	p.Ala1362Thr	rs47235374	missense variant	-	NC_000074.6:g.33236459C>T	UniProt
Wrn	O09053	p.Ser1365Ala	rs263034114	missense variant	-	NC_000074.6:g.33236450A>C	UniProt
Wrn	O09053	p.Glu1366Gly	rs239756560	missense variant	-	NC_000074.6:g.33236446T>C	UniProt
Wrn	O09053	p.Gly1386Ser	rs250714223	missense variant	-	NC_000074.6:g.33236387C>T	UniProt
Wrn	O09053	p.Phe1400Ile	rs4227104	missense variant	-	NC_000074.6:g.33236345A>T	UniProt
Wrn	O09053	p.Gln19Lys	rs257672681	missense variant	-	NC_000074.6:g.33353318G>T	UniProt
Wrn	O09053	p.Ile82Val	rs231425441	missense variant	-	NC_000074.6:g.33343640T>C	UniProt
Wrn	O09053	p.Ser101Asn	rs32686799	missense variant	-	NC_000074.6:g.33343582C>T	UniProt
Wrn	O09053	p.Ala228Val	rs47834680	missense variant	-	NC_000074.6:g.33334199G>A	UniProt
Wrn	O09053	p.Ser250Leu	rs30204483	missense variant	-	NC_000074.6:g.33329174G>A	UniProt
Wrn	O09053	p.Lys337Thr	rs1134739631	missense variant	-	NC_000074.6:g.33324405T>G	UniProt
Wrn	O09053	p.Val361Gly	rs235081524	missense variant	-	NC_000074.6:g.33324333A>C	UniProt
Wrn	O09053	p.Met439Thr	rs1135015573	missense variant	-	NC_000074.6:g.33322301A>G	UniProt
Wrn	O09053	p.Met441Thr	rs1134044238	missense variant	-	NC_000074.6:g.33322295A>G	UniProt
Wrn	O09053	p.Val452Met	rs50932912	missense variant	-	NC_000074.6:g.33320584C>T	UniProt
Wrn	O09053	p.Thr459Lys	rs47608971	missense variant	-	NC_000074.6:g.33320562G>T	UniProt
Wrn	O09053	p.Arg468Cys	rs46191284	missense variant	-	NC_000074.6:g.33320536G>A	UniProt
Wrn	O09053	p.Val595Phe	rs1132708826	missense variant	-	NC_000074.6:g.33316351C>A	UniProt
Wrn	O09053	p.Gln619Lys	rs30199731	missense variant	-	NC_000074.6:g.33310729G>T	UniProt
Wrn	O09053	p.Ser622Cys	rs30199728	missense variant	-	NC_000074.6:g.33310719G>C	UniProt
Wrn	O09053	p.Ser723Asn	rs263094782	missense variant	-	NC_000074.6:g.33294904C>T	UniProt
Wrn	O09053	p.Leu844His	rs46227402	missense variant	-	NC_000074.6:g.33285233A>T	UniProt
Wrn	O09053	p.Asp850Asn	rs211824091	missense variant	-	NC_000074.6:g.33285216C>T	UniProt
Wrn	O09053	p.Ser871Asn	rs30197347	missense variant	-	NC_000074.6:g.33285152C>T	UniProt
Wrn	O09053	p.Phe942Ile	rs1134616702	missense variant	-	NC_000074.6:g.33280810A>T	UniProt
Wrn	O09053	p.Ser1021Leu	rs13479691	missense variant	-	NC_000074.6:g.33268792G>A	UniProt
Wrn	O09053	p.Gln1022Lys	rs251916220	missense variant	-	NC_000074.6:g.33268790G>T	UniProt
Wrn	O09053	p.Pro1050Ser	rs230969097	missense variant	-	NC_000074.6:g.33267841G>A	UniProt
Wrn	O09053	p.Glu1051Gly	rs256162785	missense variant	-	NC_000074.6:g.33267837T>C	UniProt
Wrn	O09053	p.Thr1052Met	rs238254284	missense variant	-	NC_000074.6:g.33267834G>A	UniProt
Wrn	O09053	p.Glu1182Gly	rs48550002	missense variant	-	NC_000074.6:g.33255535T>C	UniProt
Wrn	O09053	p.Asp1217Gly	rs50627929	missense variant	-	NC_000074.6:g.33251769T>C	UniProt
Wrn	O09053	p.Ala1252Thr	rs240112556	missense variant	-	NC_000074.6:g.33249045C>T	UniProt
Wrn	O09053	p.Ala1252Val	rs33057240	missense variant	-	NC_000074.6:g.33249044G>A	UniProt
Wrn	O09053	p.Leu1308Ile	rs32751602	missense variant	-	NC_000074.6:g.33241110A>T	UniProt
Wrn	O09053	p.Leu1308Phe	rs46514474	missense variant	-	NC_000074.6:g.33241108T>G	UniProt
Wrn	O09053	p.Ala1356Val	rs49782088	missense variant	-	NC_000074.6:g.33240965G>A	UniProt
Wrn	O09053	p.Ala1362Thr	rs47235374	missense variant	-	NC_000074.6:g.33236459C>T	UniProt
Wrn	O09053	p.Ser1365Ala	rs263034114	missense variant	-	NC_000074.6:g.33236450A>C	UniProt
Wrn	O09053	p.Glu1366Gly	rs239756560	missense variant	-	NC_000074.6:g.33236446T>C	UniProt
Wrn	O09053	p.Gly1386Ser	rs250714223	missense variant	-	NC_000074.6:g.33236387C>T	UniProt
Wrn	O09053	p.Phe1400Ile	rs4227104	missense variant	-	NC_000074.6:g.33236345A>T	UniProt
Alx4	O35137	p.Glu11Asp	rs230888990	missense variant	-	NC_000068.7:g.93642691G>C	UniProt
Alx4	O35137	p.Ser81Ala	rs246846678	missense variant	-	NC_000068.7:g.93642899T>G	UniProt
Alx4	O35137	p.Ser183Asn	rs27383403	missense variant	-	NC_000068.7:g.93668472G>A	UniProt
Alx4	O35137	p.Arg206Gln		Missense	-	-	UniProt
Pbx3	O35317	p.His74Arg	rs864297993	missense variant	-	NC_000068.7:g.34370877T>C	UniProt
Phyh	O35386	p.Asn2Lys	rs27063458	missense variant	-	NC_000068.7:g.4919075T>A	UniProt
Phyh	O35386	p.Ala27Ser	rs251281257	missense variant	-	NC_000068.7:g.4922831G>T	UniProt
Tcf21	O35437	p.Gly54Ala	rs227141336	missense variant	-	NC_000076.6:g.22819743C>G	UniProt
Tcf21	O35437	p.Ala62Thr	rs255351272	missense variant	-	NC_000076.6:g.22819720C>T	UniProt
Tcf21	O35437	p.Ala170Ser	rs29364931	missense variant	-	NC_000076.6:g.22817769C>A	UniProt
Wnt9b	O35468	p.Ala10Thr	rs1134276192	missense variant	-	NC_000077.6:g.103749742C>T	UniProt
Wnt9b	O35468	p.Ala10Val	rs264685260	missense variant	-	NC_000077.6:g.103749741G>A	UniProt
Wnt9b	O35468	p.Val16Ala	rs244324183	missense variant	-	NC_000077.6:g.103749723A>G	UniProt
Fgf10	O35565	p.Phe32Val	rs245031118	missense variant	-	NC_000079.6:g.118715477T>G	UniProt
Rax	O35602	p.Ala9Thr	rs233406758	missense variant	-	NC_000084.6:g.65938790C>T	UniProt
Rax	O35602	p.Ser14Gly	rs214857573	missense variant	-	NC_000084.6:g.65938775T>C	UniProt
Rax	O35602	p.Ala18Ser	rs247105424	missense variant	-	NC_000084.6:g.65938763C>A	UniProt
Rax	O35602	p.Leu286Met	rs49563555	missense variant	-	NC_000084.6:g.65935177G>T	UniProt
Mdm4	O35618	p.Ile112Asn	rs6192152	missense variant	-	NC_000067.6:g.133009145A>T	UniProt
Mdm4	O35618	p.Cys210Tyr	rs253523478	missense variant	-	NC_000067.6:g.133001326C>T	UniProt
Mdm4	O35618	p.Thr274Met	rs582516334	missense variant	-	NC_000067.6:g.132994582G>A	UniProt
Mdm4	O35618	p.Glu401Gly	rs245555288	missense variant	-	NC_000067.6:g.132991924T>C	UniProt
Mdm4	O35618	p.Ala409Glu	rs243387396	missense variant	-	NC_000067.6:g.132991900G>T	UniProt
Mdm4	O35618	p.Glu411Gly	rs218592325	missense variant	-	NC_000067.6:g.132991894T>C	UniProt
Mdm4	O35618	p.Ala475Val	rs223796411	missense variant	-	NC_000067.6:g.132991702G>A	UniProt
Mdm4	O35618	p.Ile112Asn	rs6192152	missense variant	-	NC_000067.6:g.133009145A>T	UniProt
Mdm4	O35618	p.Cys210Tyr	rs253523478	missense variant	-	NC_000067.6:g.133001326C>T	UniProt
Mdm4	O35618	p.Thr274Met	rs582516334	missense variant	-	NC_000067.6:g.132994582G>A	UniProt
Mdm4	O35618	p.Glu401Gly	rs245555288	missense variant	-	NC_000067.6:g.132991924T>C	UniProt
Mdm4	O35618	p.Ala409Glu	rs243387396	missense variant	-	NC_000067.6:g.132991900G>T	UniProt
Mdm4	O35618	p.Glu411Gly	rs218592325	missense variant	-	NC_000067.6:g.132991894T>C	UniProt
Mdm4	O35618	p.Ala475Val	rs223796411	missense variant	-	NC_000067.6:g.132991702G>A	UniProt
Slc32a1	O35633	p.Gln56Glu	rs265965342	missense variant	-	NC_000068.7:g.158611407C>G	UniProt
Pbx2	O35984	p.Pro417Leu	rs33269425	missense variant	-	NC_000083.6:g.34595873C>T	UniProt
Foxf2	O54743	p.Ala26Ser	rs213239918	missense variant	-	NC_000079.6:g.31626155G>T	UniProt
Foxf2	O54743	p.Met373Val	rs255684052	missense variant	-	NC_000079.6:g.31627196A>G	UniProt
Ilk	O55222	p.Val280Phe	rs230272606	missense variant	-	NC_000073.6:g.105741689G>T	UniProt
Ilk	O55222	p.Val280Phe	rs230272606	missense variant	-	NC_000073.6:g.105741689G>T	UniProt
Alx3	O70137	p.Ala7Thr	rs233494383	missense variant	-	NC_000069.6:g.107595194G>A	UniProt
Alx3	O70137	p.Ser10Ala	rs252693628	missense variant	-	NC_000069.6:g.107595203T>G	UniProt
Alx3	O70137	p.Val134Ile	rs258207011	missense variant	-	NC_000069.6:g.107600576G>A	UniProt
Grem1	O70326	p.Pro51Ser	rs228640966	missense variant	-	NC_000068.7:g.113750004G>A	UniProt
Fzd1	O70421	p.Ala38Thr	rs250144360	missense variant	-	NC_000071.6:g.4757469C>T	UniProt
Mid1	O70583	p.Ile37Val	rs261059442	missense variant	-	NC_000086.7:g.169927118A>G	UniProt
Mid1	O70583	p.Asn45Asp	rs242084437	missense variant	-	NC_000086.7:g.169927142A>G	UniProt
Mid1	O70583	p.Ile51Thr	rs265033598	missense variant	-	NC_000086.7:g.169927161T>C	UniProt
Mid1	O70583	p.Asn52His	rs225930754	missense variant	-	NC_000086.7:g.169927163A>C	UniProt
Mid1	O70583	p.Asn52Ser	rs239220937	missense variant	-	NC_000086.7:g.169927164A>G	UniProt
Mid1	O70583	p.Ile63Thr	rs31816666	missense variant	-	NC_000086.7:g.169927197T>C	UniProt
Mid1	O70583	p.Ser66Gly	rs227999551	missense variant	-	NC_000086.7:g.169927205A>G	UniProt
Mid1	O70583	p.Gln67Arg	rs247127194	missense variant	-	NC_000086.7:g.169927209A>G	UniProt
Mid1	O70583	p.Lys74Arg	rs31816669	missense variant	-	NC_000086.7:g.169927230A>G	UniProt
Mid1	O70583	p.Lys147Arg	rs216287332	missense variant	-	NC_000086.7:g.169927449A>G	UniProt
Mid1	O70583	p.Ile165Thr	rs239057203	missense variant	-	NC_000086.7:g.169927503T>C	UniProt
Mid1	O70583	p.Asp180His	rs31817621	missense variant	-	NC_000086.7:g.169927547G>C	UniProt
Mid1	O70583	p.Val188Ala	rs221927393	missense variant	-	NC_000086.7:g.169927572T>C	UniProt
Mid1	O70583	p.Lys218Arg	rs246763832	missense variant	-	NC_000086.7:g.169927662A>G	UniProt
Mid1	O70583	p.Asn229His	rs244098199	missense variant	-	NC_000086.7:g.169966087A>C	UniProt
Mid1	O70583	p.Asn323Ser	rs225704370	missense variant	-	NC_000086.7:g.169981988A>G	UniProt
Mid1	O70583	p.Phe362Leu	rs218494549	missense variant	-	NC_000086.7:g.169984028T>G	UniProt
Mid1	O70583	p.Asn383Ser	rs236672773	missense variant	-	NC_000086.7:g.169985005A>G	UniProt
Mid1	O70583	p.Pro384Ala	rs51347933	missense variant	-	NC_000086.7:g.169985007C>G	UniProt
Mid1	O70583	p.Glu408Ala	rs246821055	missense variant	-	NC_000086.7:g.169985080A>C	UniProt
Mid1	O70583	p.Ile420Val	rs261099376	missense variant	-	NC_000086.7:g.169985115A>G	UniProt
Mid1	O70583	p.Gln424His	rs213128084	missense variant	-	NC_000086.7:g.169985129A>C	UniProt
Mid1	O70583	p.Thr435Ala	rs222930233	missense variant	-	NC_000086.7:g.169985914A>G	UniProt
Mid1	O70583	p.Asn445His	rs265585866	missense variant	-	NC_000086.7:g.169985944A>C	UniProt
Mid1	O70583	p.Thr475Met	rs231422450	missense variant	-	NC_000086.7:g.169986035C>T	UniProt
Mid1	O70583	p.Ala482Val	rs252465181	missense variant	-	NC_000086.7:g.169986056C>T	UniProt
Mid1	O70583	p.Ser486Gly	rs248631694	missense variant	-	NC_000086.7:g.169986067A>G	UniProt
Mid1	O70583	p.Lys491Thr	rs230569606	missense variant	-	NC_000086.7:g.169986083A>C	UniProt
Mid1	O70583	p.Arg500Thr	rs212645497	missense variant	-	NC_000086.7:g.169987571G>C	UniProt
Mid1	O70583	p.Ser524Ala	rs223022585	missense variant	-	NC_000086.7:g.169987642T>G	UniProt
Mid1	O70583	p.Ser540Cys	rs46139221	missense variant	-	NC_000086.7:g.169987690A>T	UniProt
Mid1	O70583	p.Ser561Gly	rs258987275	missense variant	-	NC_000086.7:g.169987753A>G	UniProt
Mid1	O70583	p.Tyr566Cys	rs265446813	missense variant	-	NC_000086.7:g.169988865A>G	UniProt
Mid1	O70583	p.Tyr566Phe	rs265446813	missense variant	-	NC_000086.7:g.169988865A>T	UniProt
Mid1	O70583	p.Lys577Arg	rs247541267	missense variant	-	NC_000086.7:g.169988898A>G	UniProt
Mid1	O70583	p.His596Arg	rs215402680	missense variant	-	NC_000086.7:g.169988955A>G	UniProt
Mid1	O70583	p.Ser635Gly	rs240977393	missense variant	-	NC_000086.7:g.169989071A>G	UniProt
Mid1	O70583	p.Ile663Val	rs222513880	missense variant	-	NC_000086.7:g.169989155A>G	UniProt
Mid1	O70583	p.Ile37Val	rs261059442	missense variant	-	NC_000086.7:g.169927118A>G	UniProt
Mid1	O70583	p.Asn45Asp	rs242084437	missense variant	-	NC_000086.7:g.169927142A>G	UniProt
Mid1	O70583	p.Ile51Thr	rs265033598	missense variant	-	NC_000086.7:g.169927161T>C	UniProt
Mid1	O70583	p.Asn52His	rs225930754	missense variant	-	NC_000086.7:g.169927163A>C	UniProt
Mid1	O70583	p.Asn52Ser	rs239220937	missense variant	-	NC_000086.7:g.169927164A>G	UniProt
Mid1	O70583	p.Ile63Thr	rs31816666	missense variant	-	NC_000086.7:g.169927197T>C	UniProt
Mid1	O70583	p.Ser66Gly	rs227999551	missense variant	-	NC_000086.7:g.169927205A>G	UniProt
Mid1	O70583	p.Gln67Arg	rs247127194	missense variant	-	NC_000086.7:g.169927209A>G	UniProt
Mid1	O70583	p.Lys74Arg	rs31816669	missense variant	-	NC_000086.7:g.169927230A>G	UniProt
Mid1	O70583	p.Lys147Arg	rs216287332	missense variant	-	NC_000086.7:g.169927449A>G	UniProt
Mid1	O70583	p.Ile165Thr	rs239057203	missense variant	-	NC_000086.7:g.169927503T>C	UniProt
Mid1	O70583	p.Asp180His	rs31817621	missense variant	-	NC_000086.7:g.169927547G>C	UniProt
Mid1	O70583	p.Val188Ala	rs221927393	missense variant	-	NC_000086.7:g.169927572T>C	UniProt
Mid1	O70583	p.Lys218Arg	rs246763832	missense variant	-	NC_000086.7:g.169927662A>G	UniProt
Mid1	O70583	p.Asn229His	rs244098199	missense variant	-	NC_000086.7:g.169966087A>C	UniProt
Mid1	O70583	p.Asn323Ser	rs225704370	missense variant	-	NC_000086.7:g.169981988A>G	UniProt
Mid1	O70583	p.Phe362Leu	rs218494549	missense variant	-	NC_000086.7:g.169984028T>G	UniProt
Mid1	O70583	p.Asn383Ser	rs236672773	missense variant	-	NC_000086.7:g.169985005A>G	UniProt
Mid1	O70583	p.Pro384Ala	rs51347933	missense variant	-	NC_000086.7:g.169985007C>G	UniProt
Mid1	O70583	p.Glu408Ala	rs246821055	missense variant	-	NC_000086.7:g.169985080A>C	UniProt
Mid1	O70583	p.Ile420Val	rs261099376	missense variant	-	NC_000086.7:g.169985115A>G	UniProt
Mid1	O70583	p.Gln424His	rs213128084	missense variant	-	NC_000086.7:g.169985129A>C	UniProt
Mid1	O70583	p.Thr435Ala	rs222930233	missense variant	-	NC_000086.7:g.169985914A>G	UniProt
Mid1	O70583	p.Asn445His	rs265585866	missense variant	-	NC_000086.7:g.169985944A>C	UniProt
Mid1	O70583	p.Thr475Met	rs231422450	missense variant	-	NC_000086.7:g.169986035C>T	UniProt
Mid1	O70583	p.Ala482Val	rs252465181	missense variant	-	NC_000086.7:g.169986056C>T	UniProt
Mid1	O70583	p.Ser486Gly	rs248631694	missense variant	-	NC_000086.7:g.169986067A>G	UniProt
Mid1	O70583	p.Lys491Thr	rs230569606	missense variant	-	NC_000086.7:g.169986083A>C	UniProt
Mid1	O70583	p.Arg500Thr	rs212645497	missense variant	-	NC_000086.7:g.169987571G>C	UniProt
Mid1	O70583	p.Ser524Ala	rs223022585	missense variant	-	NC_000086.7:g.169987642T>G	UniProt
Mid1	O70583	p.Ser540Cys	rs46139221	missense variant	-	NC_000086.7:g.169987690A>T	UniProt
Mid1	O70583	p.Ser561Gly	rs258987275	missense variant	-	NC_000086.7:g.169987753A>G	UniProt
Mid1	O70583	p.Tyr566Phe	rs265446813	missense variant	-	NC_000086.7:g.169988865A>T	UniProt
Mid1	O70583	p.Tyr566Cys	rs265446813	missense variant	-	NC_000086.7:g.169988865A>G	UniProt
Mid1	O70583	p.Lys577Arg	rs247541267	missense variant	-	NC_000086.7:g.169988898A>G	UniProt
Mid1	O70583	p.His596Arg	rs215402680	missense variant	-	NC_000086.7:g.169988955A>G	UniProt
Mid1	O70583	p.Ser635Gly	rs240977393	missense variant	-	NC_000086.7:g.169989071A>G	UniProt
Mid1	O70583	p.Ile663Val	rs222513880	missense variant	-	NC_000086.7:g.169989155A>G	UniProt
Mid1	O70583	p.Ile37Val	rs261059442	missense variant	-	NC_000086.7:g.169927118A>G	UniProt
Mid1	O70583	p.Asn45Asp	rs242084437	missense variant	-	NC_000086.7:g.169927142A>G	UniProt
Mid1	O70583	p.Ile51Thr	rs265033598	missense variant	-	NC_000086.7:g.169927161T>C	UniProt
Mid1	O70583	p.Asn52Ser	rs239220937	missense variant	-	NC_000086.7:g.169927164A>G	UniProt
Mid1	O70583	p.Asn52His	rs225930754	missense variant	-	NC_000086.7:g.169927163A>C	UniProt
Mid1	O70583	p.Ile63Thr	rs31816666	missense variant	-	NC_000086.7:g.169927197T>C	UniProt
Mid1	O70583	p.Ser66Gly	rs227999551	missense variant	-	NC_000086.7:g.169927205A>G	UniProt
Mid1	O70583	p.Gln67Arg	rs247127194	missense variant	-	NC_000086.7:g.169927209A>G	UniProt
Mid1	O70583	p.Lys74Arg	rs31816669	missense variant	-	NC_000086.7:g.169927230A>G	UniProt
Mid1	O70583	p.Lys147Arg	rs216287332	missense variant	-	NC_000086.7:g.169927449A>G	UniProt
Mid1	O70583	p.Ile165Thr	rs239057203	missense variant	-	NC_000086.7:g.169927503T>C	UniProt
Mid1	O70583	p.Asp180His	rs31817621	missense variant	-	NC_000086.7:g.169927547G>C	UniProt
Mid1	O70583	p.Val188Ala	rs221927393	missense variant	-	NC_000086.7:g.169927572T>C	UniProt
Mid1	O70583	p.Lys218Arg	rs246763832	missense variant	-	NC_000086.7:g.169927662A>G	UniProt
Mid1	O70583	p.Asn229His	rs244098199	missense variant	-	NC_000086.7:g.169966087A>C	UniProt
Mid1	O70583	p.Asn323Ser	rs225704370	missense variant	-	NC_000086.7:g.169981988A>G	UniProt
Mid1	O70583	p.Phe362Leu	rs218494549	missense variant	-	NC_000086.7:g.169984028T>G	UniProt
Mid1	O70583	p.Asn383Ser	rs236672773	missense variant	-	NC_000086.7:g.169985005A>G	UniProt
Mid1	O70583	p.Pro384Ala	rs51347933	missense variant	-	NC_000086.7:g.169985007C>G	UniProt
Mid1	O70583	p.Glu408Ala	rs246821055	missense variant	-	NC_000086.7:g.169985080A>C	UniProt
Mid1	O70583	p.Ile420Val	rs261099376	missense variant	-	NC_000086.7:g.169985115A>G	UniProt
Mid1	O70583	p.Gln424His	rs213128084	missense variant	-	NC_000086.7:g.169985129A>C	UniProt
Mid1	O70583	p.Thr435Ala	rs222930233	missense variant	-	NC_000086.7:g.169985914A>G	UniProt
Mid1	O70583	p.Asn445His	rs265585866	missense variant	-	NC_000086.7:g.169985944A>C	UniProt
Mid1	O70583	p.Thr475Met	rs231422450	missense variant	-	NC_000086.7:g.169986035C>T	UniProt
Mid1	O70583	p.Ala482Val	rs252465181	missense variant	-	NC_000086.7:g.169986056C>T	UniProt
Mid1	O70583	p.Ser486Gly	rs248631694	missense variant	-	NC_000086.7:g.169986067A>G	UniProt
Mid1	O70583	p.Lys491Thr	rs230569606	missense variant	-	NC_000086.7:g.169986083A>C	UniProt
Mid1	O70583	p.Arg500Thr	rs212645497	missense variant	-	NC_000086.7:g.169987571G>C	UniProt
Mid1	O70583	p.Ser524Ala	rs223022585	missense variant	-	NC_000086.7:g.169987642T>G	UniProt
Mid1	O70583	p.Ser540Cys	rs46139221	missense variant	-	NC_000086.7:g.169987690A>T	UniProt
Mid1	O70583	p.Ser561Gly	rs258987275	missense variant	-	NC_000086.7:g.169987753A>G	UniProt
Mid1	O70583	p.Tyr566Cys	rs265446813	missense variant	-	NC_000086.7:g.169988865A>G	UniProt
Mid1	O70583	p.Tyr566Phe	rs265446813	missense variant	-	NC_000086.7:g.169988865A>T	UniProt
Mid1	O70583	p.Lys577Arg	rs247541267	missense variant	-	NC_000086.7:g.169988898A>G	UniProt
Mid1	O70583	p.His596Arg	rs215402680	missense variant	-	NC_000086.7:g.169988955A>G	UniProt
Mid1	O70583	p.Ser635Gly	rs240977393	missense variant	-	NC_000086.7:g.169989071A>G	UniProt
Mid1	O70583	p.Ile663Val	rs222513880	missense variant	-	NC_000086.7:g.169989155A>G	UniProt
Mid1	O70583	p.Ile37Val	rs261059442	missense variant	-	NC_000086.7:g.169927118A>G	UniProt
Mid1	O70583	p.Asn45Asp	rs242084437	missense variant	-	NC_000086.7:g.169927142A>G	UniProt
Mid1	O70583	p.Ile51Thr	rs265033598	missense variant	-	NC_000086.7:g.169927161T>C	UniProt
Mid1	O70583	p.Asn52His	rs225930754	missense variant	-	NC_000086.7:g.169927163A>C	UniProt
Mid1	O70583	p.Asn52Ser	rs239220937	missense variant	-	NC_000086.7:g.169927164A>G	UniProt
Mid1	O70583	p.Ile63Thr	rs31816666	missense variant	-	NC_000086.7:g.169927197T>C	UniProt
Mid1	O70583	p.Ser66Gly	rs227999551	missense variant	-	NC_000086.7:g.169927205A>G	UniProt
Mid1	O70583	p.Gln67Arg	rs247127194	missense variant	-	NC_000086.7:g.169927209A>G	UniProt
Mid1	O70583	p.Lys74Arg	rs31816669	missense variant	-	NC_000086.7:g.169927230A>G	UniProt
Mid1	O70583	p.Lys147Arg	rs216287332	missense variant	-	NC_000086.7:g.169927449A>G	UniProt
Mid1	O70583	p.Ile165Thr	rs239057203	missense variant	-	NC_000086.7:g.169927503T>C	UniProt
Mid1	O70583	p.Asp180His	rs31817621	missense variant	-	NC_000086.7:g.169927547G>C	UniProt
Mid1	O70583	p.Val188Ala	rs221927393	missense variant	-	NC_000086.7:g.169927572T>C	UniProt
Mid1	O70583	p.Lys218Arg	rs246763832	missense variant	-	NC_000086.7:g.169927662A>G	UniProt
Mid1	O70583	p.Asn229His	rs244098199	missense variant	-	NC_000086.7:g.169966087A>C	UniProt
Mid1	O70583	p.Asn323Ser	rs225704370	missense variant	-	NC_000086.7:g.169981988A>G	UniProt
Mid1	O70583	p.Phe362Leu	rs218494549	missense variant	-	NC_000086.7:g.169984028T>G	UniProt
Mid1	O70583	p.Asn383Ser	rs236672773	missense variant	-	NC_000086.7:g.169985005A>G	UniProt
Mid1	O70583	p.Pro384Ala	rs51347933	missense variant	-	NC_000086.7:g.169985007C>G	UniProt
Mid1	O70583	p.Glu408Ala	rs246821055	missense variant	-	NC_000086.7:g.169985080A>C	UniProt
Mid1	O70583	p.Ile420Val	rs261099376	missense variant	-	NC_000086.7:g.169985115A>G	UniProt
Mid1	O70583	p.Gln424His	rs213128084	missense variant	-	NC_000086.7:g.169985129A>C	UniProt
Mid1	O70583	p.Thr435Ala	rs222930233	missense variant	-	NC_000086.7:g.169985914A>G	UniProt
Mid1	O70583	p.Asn445His	rs265585866	missense variant	-	NC_000086.7:g.169985944A>C	UniProt
Mid1	O70583	p.Thr475Met	rs231422450	missense variant	-	NC_000086.7:g.169986035C>T	UniProt
Mid1	O70583	p.Ala482Val	rs252465181	missense variant	-	NC_000086.7:g.169986056C>T	UniProt
Mid1	O70583	p.Ser486Gly	rs248631694	missense variant	-	NC_000086.7:g.169986067A>G	UniProt
Mid1	O70583	p.Lys491Thr	rs230569606	missense variant	-	NC_000086.7:g.169986083A>C	UniProt
Mid1	O70583	p.Arg500Thr	rs212645497	missense variant	-	NC_000086.7:g.169987571G>C	UniProt
Mid1	O70583	p.Ser524Ala	rs223022585	missense variant	-	NC_000086.7:g.169987642T>G	UniProt
Mid1	O70583	p.Ser540Cys	rs46139221	missense variant	-	NC_000086.7:g.169987690A>T	UniProt
Mid1	O70583	p.Ser561Gly	rs258987275	missense variant	-	NC_000086.7:g.169987753A>G	UniProt
Mid1	O70583	p.Tyr566Phe	rs265446813	missense variant	-	NC_000086.7:g.169988865A>T	UniProt
Mid1	O70583	p.Tyr566Cys	rs265446813	missense variant	-	NC_000086.7:g.169988865A>G	UniProt
Mid1	O70583	p.Lys577Arg	rs247541267	missense variant	-	NC_000086.7:g.169988898A>G	UniProt
Mid1	O70583	p.His596Arg	rs215402680	missense variant	-	NC_000086.7:g.169988955A>G	UniProt
Mid1	O70583	p.Ser635Gly	rs240977393	missense variant	-	NC_000086.7:g.169989071A>G	UniProt
Mid1	O70583	p.Ile663Val	rs222513880	missense variant	-	NC_000086.7:g.169989155A>G	UniProt
Mid1	O70583	p.Ile37Val	rs261059442	missense variant	-	NC_000086.7:g.169927118A>G	UniProt
Mid1	O70583	p.Asn45Asp	rs242084437	missense variant	-	NC_000086.7:g.169927142A>G	UniProt
Mid1	O70583	p.Ile51Thr	rs265033598	missense variant	-	NC_000086.7:g.169927161T>C	UniProt
Mid1	O70583	p.Asn52His	rs225930754	missense variant	-	NC_000086.7:g.169927163A>C	UniProt
Mid1	O70583	p.Asn52Ser	rs239220937	missense variant	-	NC_000086.7:g.169927164A>G	UniProt
Mid1	O70583	p.Ile63Thr	rs31816666	missense variant	-	NC_000086.7:g.169927197T>C	UniProt
Mid1	O70583	p.Ser66Gly	rs227999551	missense variant	-	NC_000086.7:g.169927205A>G	UniProt
Mid1	O70583	p.Gln67Arg	rs247127194	missense variant	-	NC_000086.7:g.169927209A>G	UniProt
Mid1	O70583	p.Lys74Arg	rs31816669	missense variant	-	NC_000086.7:g.169927230A>G	UniProt
Mid1	O70583	p.Lys147Arg	rs216287332	missense variant	-	NC_000086.7:g.169927449A>G	UniProt
Mid1	O70583	p.Ile165Thr	rs239057203	missense variant	-	NC_000086.7:g.169927503T>C	UniProt
Mid1	O70583	p.Asp180His	rs31817621	missense variant	-	NC_000086.7:g.169927547G>C	UniProt
Mid1	O70583	p.Val188Ala	rs221927393	missense variant	-	NC_000086.7:g.169927572T>C	UniProt
Mid1	O70583	p.Lys218Arg	rs246763832	missense variant	-	NC_000086.7:g.169927662A>G	UniProt
Mid1	O70583	p.Asn229His	rs244098199	missense variant	-	NC_000086.7:g.169966087A>C	UniProt
Mid1	O70583	p.Asn323Ser	rs225704370	missense variant	-	NC_000086.7:g.169981988A>G	UniProt
Mid1	O70583	p.Phe362Leu	rs218494549	missense variant	-	NC_000086.7:g.169984028T>G	UniProt
Mid1	O70583	p.Asn383Ser	rs236672773	missense variant	-	NC_000086.7:g.169985005A>G	UniProt
Mid1	O70583	p.Pro384Ala	rs51347933	missense variant	-	NC_000086.7:g.169985007C>G	UniProt
Mid1	O70583	p.Glu408Ala	rs246821055	missense variant	-	NC_000086.7:g.169985080A>C	UniProt
Mid1	O70583	p.Ile420Val	rs261099376	missense variant	-	NC_000086.7:g.169985115A>G	UniProt
Mid1	O70583	p.Gln424His	rs213128084	missense variant	-	NC_000086.7:g.169985129A>C	UniProt
Mid1	O70583	p.Thr435Ala	rs222930233	missense variant	-	NC_000086.7:g.169985914A>G	UniProt
Mid1	O70583	p.Asn445His	rs265585866	missense variant	-	NC_000086.7:g.169985944A>C	UniProt
Mid1	O70583	p.Thr475Met	rs231422450	missense variant	-	NC_000086.7:g.169986035C>T	UniProt
Mid1	O70583	p.Ala482Val	rs252465181	missense variant	-	NC_000086.7:g.169986056C>T	UniProt
Mid1	O70583	p.Ser486Gly	rs248631694	missense variant	-	NC_000086.7:g.169986067A>G	UniProt
Mid1	O70583	p.Lys491Thr	rs230569606	missense variant	-	NC_000086.7:g.169986083A>C	UniProt
Mid1	O70583	p.Arg500Thr	rs212645497	missense variant	-	NC_000086.7:g.169987571G>C	UniProt
Mid1	O70583	p.Ser524Ala	rs223022585	missense variant	-	NC_000086.7:g.169987642T>G	UniProt
Mid1	O70583	p.Ser540Cys	rs46139221	missense variant	-	NC_000086.7:g.169987690A>T	UniProt
Mid1	O70583	p.Ser561Gly	rs258987275	missense variant	-	NC_000086.7:g.169987753A>G	UniProt
Mid1	O70583	p.Tyr566Cys	rs265446813	missense variant	-	NC_000086.7:g.169988865A>G	UniProt
Mid1	O70583	p.Tyr566Phe	rs265446813	missense variant	-	NC_000086.7:g.169988865A>T	UniProt
Mid1	O70583	p.Lys577Arg	rs247541267	missense variant	-	NC_000086.7:g.169988898A>G	UniProt
Mid1	O70583	p.His596Arg	rs215402680	missense variant	-	NC_000086.7:g.169988955A>G	UniProt
Mid1	O70583	p.Ser635Gly	rs240977393	missense variant	-	NC_000086.7:g.169989071A>G	UniProt
Mid1	O70583	p.Ile663Val	rs222513880	missense variant	-	NC_000086.7:g.169989155A>G	UniProt
Tulp3	O88413	p.Asp17Glu	rs224181787	missense variant	-	NC_000072.6:g.128337776G>T	UniProt
Tulp3	O88413	p.Glu128Val	rs248702261	missense variant	-	NC_000072.6:g.128333880T>A	UniProt
Tulp3	O88413	p.Arg171Pro	rs256401711	missense variant	-	NC_000072.6:g.128327996C>G	UniProt
Tulp3	O88413	p.Arg358Gln	rs261812589	missense variant	-	NC_000072.6:g.128324984C>T	UniProt
Dhcr7	O88455	p.Ala68Val	rs248337659	missense variant	-	NC_000073.6:g.143837878C>T	UniProt
Dhcr7	O88455	p.Glu203Lys	rs235831405	missense variant	-	NC_000073.6:g.143841364G>A	UniProt
Dhcr7	O88455	p.Asp306Asn	rs215024589	missense variant	-	NC_000073.6:g.143845537G>A	UniProt
Dhcr7	O88455	p.Gly469Arg	rs236761028	missense variant	-	NC_000073.6:g.143847506G>A	UniProt
Dhcr7	O88455	p.Ala68Val	rs248337659	missense variant	-	NC_000073.6:g.143837878C>T	UniProt
Dhcr7	O88455	p.Glu203Lys	rs235831405	missense variant	-	NC_000073.6:g.143841364G>A	UniProt
Dhcr7	O88455	p.Asp306Asn	rs215024589	missense variant	-	NC_000073.6:g.143845537G>A	UniProt
Dhcr7	O88455	p.Gly469Arg	rs236761028	missense variant	-	NC_000073.6:g.143847506G>A	UniProt
Dhcr7	O88455	p.Ala68Val	rs248337659	missense variant	-	NC_000073.6:g.143837878C>T	UniProt
Dhcr7	O88455	p.Glu203Lys	rs235831405	missense variant	-	NC_000073.6:g.143841364G>A	UniProt
Dhcr7	O88455	p.Asp306Asn	rs215024589	missense variant	-	NC_000073.6:g.143845537G>A	UniProt
Dhcr7	O88455	p.Gly469Arg	rs236761028	missense variant	-	NC_000073.6:g.143847506G>A	UniProt
Dnmt3b	O88509	p.Asn24Ser	rs236121010	missense variant	-	NC_000068.7:g.153661501A>G	UniProt
Dnmt3b	O88509	p.Phe27Cys	rs263288182	missense variant	-	NC_000068.7:g.153661510T>G	UniProt
Dnmt3b	O88509	p.Ala37Val	rs225110864	missense variant	-	NC_000068.7:g.153661540C>T	UniProt
Dnmt3b	O88509	p.Arg86Gly	rs27400092	missense variant	-	NC_000068.7:g.153662735A>G	UniProt
Dnmt3b	O88509	p.Thr121Ala	rs220011319	missense variant	-	NC_000068.7:g.153665258A>G	UniProt
Dnmt3b	O88509	p.Gln133Arg	rs33122388	missense variant	-	NC_000068.7:g.153665295A>G	UniProt
Dnmt3b	O88509	p.Leu235Ile	rs864269117	missense variant	-	NC_000068.7:g.153667531C>A	UniProt
Dnmt3b	O88509	p.Val364Ala	rs245832034	missense variant	-	NC_000068.7:g.153670852T>C	UniProt
Dnmt3b	O88509	p.Ala521Val	rs1133620620	missense variant	-	NC_000068.7:g.153674914C>T	UniProt
Dnmt3b	O88509	p.Lys640Arg	rs864306089	missense variant	-	NC_000068.7:g.153676837A>G	UniProt
Dnmt3b	O88509	p.Asn24Ser	rs236121010	missense variant	-	NC_000068.7:g.153661501A>G	UniProt
Dnmt3b	O88509	p.Phe27Cys	rs263288182	missense variant	-	NC_000068.7:g.153661510T>G	UniProt
Dnmt3b	O88509	p.Ala37Val	rs225110864	missense variant	-	NC_000068.7:g.153661540C>T	UniProt
Dnmt3b	O88509	p.Arg86Gly	rs27400092	missense variant	-	NC_000068.7:g.153662735A>G	UniProt
Dnmt3b	O88509	p.Thr121Ala	rs220011319	missense variant	-	NC_000068.7:g.153665258A>G	UniProt
Dnmt3b	O88509	p.Gln133Arg	rs33122388	missense variant	-	NC_000068.7:g.153665295A>G	UniProt
Dnmt3b	O88509	p.Leu235Ile	rs864269117	missense variant	-	NC_000068.7:g.153667531C>A	UniProt
Dnmt3b	O88509	p.Val364Ala	rs245832034	missense variant	-	NC_000068.7:g.153670852T>C	UniProt
Dnmt3b	O88509	p.Ala521Val	rs1133620620	missense variant	-	NC_000068.7:g.153674914C>T	UniProt
Dnmt3b	O88509	p.Lys640Arg	rs864306089	missense variant	-	NC_000068.7:g.153676837A>G	UniProt
Men1	O88559	p.Ser512Leu	rs13460158	missense variant	-	NC_000085.6:g.6339871C>T	UniProt
Men1	O88559	p.Thr526Asn	rs212652521	missense variant	-	NC_000085.6:g.6339913C>A	UniProt
Men1	O88559	p.Asn534Ser	rs234022720	missense variant	-	NC_000085.6:g.6339937A>G	UniProt
Men1	O88559	p.Ser512Leu	rs13460158	missense variant	-	NC_000085.6:g.6339871C>T	UniProt
Men1	O88559	p.Thr526Asn	rs212652521	missense variant	-	NC_000085.6:g.6339913C>A	UniProt
Men1	O88559	p.Asn534Ser	rs234022720	missense variant	-	NC_000085.6:g.6339937A>G	UniProt
Men1	O88559	p.Ser512Leu	rs13460158	missense variant	-	NC_000085.6:g.6339871C>T	UniProt
Men1	O88559	p.Thr526Asn	rs212652521	missense variant	-	NC_000085.6:g.6339913C>A	UniProt
Men1	O88559	p.Asn534Ser	rs234022720	missense variant	-	NC_000085.6:g.6339937A>G	UniProt
Men1	O88559	p.Ser512Leu	rs13460158	missense variant	-	NC_000085.6:g.6339871C>T	UniProt
Men1	O88559	p.Thr526Asn	rs212652521	missense variant	-	NC_000085.6:g.6339913C>A	UniProt
Men1	O88559	p.Asn534Ser	rs234022720	missense variant	-	NC_000085.6:g.6339937A>G	UniProt
Axin2	O88566	p.Ala259Glu	rs257447052	missense variant	-	NC_000077.6:g.108924063C>A	UniProt
Axin2	O88566	p.Val322Ile	rs225155171	missense variant	-	NC_000077.6:g.108939319G>A	UniProt
Axin2	O88566	p.His474Tyr	rs230691353	missense variant	-	NC_000077.6:g.108942410C>T	UniProt
Axin2	O88566	p.Thr485Ile	rs261059803	missense variant	-	NC_000077.6:g.108942444C>T	UniProt
Axin2	O88566	p.Ala603Gly	rs251100670	missense variant	-	NC_000077.6:g.108943036C>G	UniProt
Axin2	O88566	p.Cys648Arg	rs234222621	missense variant	-	NC_000077.6:g.108943696T>C	UniProt
Axin2	O88566	p.Ala649Val	rs223557877	missense variant	-	NC_000077.6:g.108943700C>T	UniProt
Axin2	O88566	p.Ala702Glu	rs257093532	missense variant	-	NC_000077.6:g.108943859C>A	UniProt
Blm	O88700	p.Cys103Arg	rs33214661	missense variant	-	NC_000073.6:g.80513286A>G	UniProt
Blm	O88700	p.Ala128Val	rs252429562	missense variant	-	NC_000073.6:g.80513210G>A	UniProt
Blm	O88700	p.Leu131Pro	rs32142074	missense variant	-	NC_000073.6:g.80513201A>G	UniProt
Blm	O88700	p.Val133Met	rs266198609	missense variant	-	NC_000073.6:g.80513196C>T	UniProt
Blm	O88700	p.Lys170Glu	rs33214659	missense variant	-	NC_000073.6:g.80513085T>C	UniProt
Blm	O88700	p.Asn198Ser	rs238407239	missense variant	-	NC_000073.6:g.80513000T>C	UniProt
Blm	O88700	p.Pro209Thr	rs222661228	missense variant	-	NC_000073.6:g.80512968G>T	UniProt
Blm	O88700	p.Leu212Gln	rs864278986	missense variant	-	NC_000073.6:g.80512958A>T	UniProt
Blm	O88700	p.Ala233Thr	rs584604272	missense variant	-	NC_000073.6:g.80512896C>T	UniProt
Blm	O88700	p.Asp239Glu	rs33214658	missense variant	-	NC_000073.6:g.80512876A>T	UniProt
Blm	O88700	p.Gly338Asp	rs33212681	missense variant	-	NC_000073.6:g.80505908C>T	UniProt
Blm	O88700	p.Ser363Asn	rs33212680	missense variant	-	NC_000073.6:g.80505833C>T	UniProt
Blm	O88700	p.Val391Ile	rs33210872	missense variant	-	NC_000073.6:g.80503304C>T	UniProt
Blm	O88700	p.Glu397Lys	rs248095622	missense variant	-	NC_000073.6:g.80503286C>T	UniProt
Blm	O88700	p.Ser431Phe	rs256324812	missense variant	-	NC_000073.6:g.80502897G>A	UniProt
Blm	O88700	p.Pro488Gln	rs259510230	missense variant	-	NC_000073.6:g.80502726G>T	UniProt
Blm	O88700	p.Val535Met	rs8248433	missense variant	-	NC_000073.6:g.80502586C>T	UniProt
Blm	O88700	p.Trp546Leu	rs8248435	missense variant	-	NC_000073.6:g.80502552C>A	UniProt
Blm	O88700	p.Trp546Cys	rs8248436	missense variant	-	NC_000073.6:g.80502551C>A	UniProt
Blm	O88700	p.Trp546Arg	rs8248434	missense variant	-	NC_000073.6:g.80502553A>G	UniProt
Blm	O88700	p.Asn547Thr	rs8248437	missense variant	-	NC_000073.6:g.80502549T>G	UniProt
Blm	O88700	p.Val548Leu	rs1133105752	missense variant	-	NC_000073.6:g.80502547C>A	UniProt
Blm	O88700	p.Glu549Gln	rs1134676396	missense variant	-	NC_000073.6:g.80502544C>G	UniProt
Blm	O88700	p.Ala554Thr	rs1132104204	missense variant	-	NC_000073.6:g.80502529C>T	UniProt
Blm	O88700	p.Asp559Asn	rs1134554848	missense variant	-	NC_000073.6:g.80502514C>T	UniProt
Blm	O88700	p.Thr591Ala	rs8248427	missense variant	-	NC_000073.6:g.80502418T>C	UniProt
Blm	O88700	p.Val619Ile	rs8248429	missense variant	-	NC_000073.6:g.80502334C>T	UniProt
Blm	O88700	p.Thr621Asn	rs8248430	missense variant	-	NC_000073.6:g.80502327G>T	UniProt
Blm	O88700	p.Ser831Phe	rs8248500	missense variant	-	NC_000073.6:g.80494189G>A	UniProt
Blm	O88700	p.Met912Val	rs8248517	missense variant	-	NC_000073.6:g.80480448T>C	UniProt
Blm	O88700	p.Tyr1066His	rs260778671	missense variant	-	NC_000073.6:g.80469628A>G	UniProt
Blm	O88700	p.Ser1101Leu	rs33214617	missense variant	-	NC_000073.6:g.80466846G>A	UniProt
Blm	O88700	p.Lys1221Arg	rs8248568	missense variant	-	NC_000073.6:g.80463877T>C	UniProt
Blm	O88700	p.Val1295Leu	rs8248583	missense variant	-	NC_000073.6:g.80460736C>A	UniProt
Blm	O88700	p.Glu1309Asp	rs8248598	missense variant	-	NC_000073.6:g.80458959C>G	UniProt
Blm	O88700	p.Val1320Ile	rs8248603	missense variant	-	NC_000073.6:g.80458928C>T	UniProt
Blm	O88700	p.His1342Gln	rs8248604	missense variant	-	NC_000073.6:g.80458860A>T	UniProt
Hsd17b7	O88736	p.Gly20Ser	rs247477825	missense variant	-	NC_000067.6:g.169967411C>T	UniProt
Hsd17b7	O88736	p.Asp27Val	rs31483660	missense variant	-	NC_000067.6:g.169967389T>A	UniProt
Hsd17b7	O88736	p.Arg45Gln	rs31483662	missense variant	-	NC_000067.6:g.169967335C>T	UniProt
Hsd17b7	O88736	p.Ala160Val	rs51415412	missense variant	-	NC_000067.6:g.169961168G>A	UniProt
Hsd17b7	O88736	p.Ala286Val	rs212723447	missense variant	-	NC_000067.6:g.169955981G>A	UniProt
Hsd17b7	O88736	p.Ser290Thr	rs259021326	missense variant	-	NC_000067.6:g.169955970A>T	UniProt
Hsd17b7	O88736	p.Val327Ile	rs241664270	missense variant	-	NC_000067.6:g.169953059C>T	UniProt
Sc5d	O88822	p.Gln217Arg	rs227883817	missense variant	-	NC_000075.6:g.42255592T>C	UniProt
Sc5d	O88822	p.Gly291Ser	rs36310583	missense variant	-	NC_000075.6:g.42255371C>T	UniProt
Sc5d	O88822	p.Gln217Arg	rs227883817	missense variant	-	NC_000075.6:g.42255592T>C	UniProt
Sc5d	O88822	p.Gly291Ser	rs36310583	missense variant	-	NC_000075.6:g.42255371C>T	UniProt
Dhrs3	O88876	p.Met27Leu	rs27632936	missense variant	-	NC_000070.6:g.144893593A>C	UniProt
Dhrs3	O88876	p.Ile66Leu	rs31862364	missense variant	-	NC_000070.6:g.144918651A>C	UniProt
Apaf1	O88879	p.Ile69Val	rs1134374437	missense variant	-	NC_000076.6:g.91079570T>C	UniProt
Apaf1	O88879	p.Ser369Leu	rs36503066	missense variant	-	NC_000076.6:g.91060136G>A	UniProt
Apaf1	O88879	p.Thr408Met	rs264570704	missense variant	-	NC_000076.6:g.91059712G>A	UniProt
Apaf1	O88879	p.Gly588Val	rs220086528	missense variant	-	NC_000076.6:g.91054410C>A	UniProt
Apaf1	O88879	p.Ile598Met	rs238694428	missense variant	-	NC_000076.6:g.91049484T>C	UniProt
Apaf1	O88879	p.Glu645Lys	rs36862062	missense variant	-	NC_000076.6:g.91048199C>T	UniProt
Apaf1	O88879	p.Lys952Gln	rs264787327	missense variant	-	NC_000076.6:g.91014164T>G	UniProt
Apaf1	O88879	p.Val1000Ile	rs258437295	missense variant	-	NC_000076.6:g.91009210C>T	UniProt
Apaf1	O88879	p.Ile1093Val	rs244864145	missense variant	-	NC_000076.6:g.90999705T>C	UniProt
Apaf1	O88879	p.Ala1097Ser	rs39345271	missense variant	-	NC_000076.6:g.90999693C>A	UniProt
Apaf1	O88879	p.Ile1168Val	rs38241400	missense variant	-	NC_000076.6:g.90995749T>C	UniProt
Apaf1	O88879	p.Ile69Val	rs1134374437	missense variant	-	NC_000076.6:g.91079570T>C	UniProt
Apaf1	O88879	p.Ser369Leu	rs36503066	missense variant	-	NC_000076.6:g.91060136G>A	UniProt
Apaf1	O88879	p.Thr408Met	rs264570704	missense variant	-	NC_000076.6:g.91059712G>A	UniProt
Apaf1	O88879	p.Gly588Val	rs220086528	missense variant	-	NC_000076.6:g.91054410C>A	UniProt
Apaf1	O88879	p.Ile598Met	rs238694428	missense variant	-	NC_000076.6:g.91049484T>C	UniProt
Apaf1	O88879	p.Glu645Lys	rs36862062	missense variant	-	NC_000076.6:g.91048199C>T	UniProt
Apaf1	O88879	p.Lys952Gln	rs264787327	missense variant	-	NC_000076.6:g.91014164T>G	UniProt
Apaf1	O88879	p.Val1000Ile	rs258437295	missense variant	-	NC_000076.6:g.91009210C>T	UniProt
Apaf1	O88879	p.Ile1093Val	rs244864145	missense variant	-	NC_000076.6:g.90999705T>C	UniProt
Apaf1	O88879	p.Ala1097Ser	rs39345271	missense variant	-	NC_000076.6:g.90999693C>A	UniProt
Apaf1	O88879	p.Ile1168Val	rs38241400	missense variant	-	NC_000076.6:g.90995749T>C	UniProt
Tp63	O88898	p.Ile19Phe	rs32471981	missense variant	-	NC_000082.6:g.25684344A>T	UniProt
Tcn2	O88968	p.Met42Val	rs259296430	missense variant	-	NC_000077.6:g.3927523T>C	UniProt
Tcn2	O88968	p.Gly102Glu		Missense	-	-	UniProt
Tcn2	O88968	p.Tyr190His	rs215697642	missense variant	-	NC_000077.6:g.3924962A>G	UniProt
Tcn2	O88968	p.Ser236Ala	rs213502940	missense variant	-	NC_000077.6:g.3923758A>C	UniProt
Tcn2	O88968	p.Val264Leu	rs13474406	missense variant	-	NC_000077.6:g.3923555C>G	UniProt
Tcn2	O88968	p.Phe286Leu	rs1132536973	missense variant	-	NC_000077.6:g.3923487G>C	UniProt
Tcn2	O88968	p.Gly368Ser	rs251942918	missense variant	-	NC_000077.6:g.3922024C>T	UniProt
Tcn2	O88968	p.Met42Val	rs259296430	missense variant	-	NC_000077.6:g.3927523T>C	UniProt
Tcn2	O88968	p.Gly102Glu		Missense	-	-	UniProt
Tcn2	O88968	p.Tyr190His	rs215697642	missense variant	-	NC_000077.6:g.3924962A>G	UniProt
Tcn2	O88968	p.Ser236Ala	rs213502940	missense variant	-	NC_000077.6:g.3923758A>C	UniProt
Tcn2	O88968	p.Val264Leu	rs13474406	missense variant	-	NC_000077.6:g.3923555C>G	UniProt
Tcn2	O88968	p.Phe286Leu	rs1132536973	missense variant	-	NC_000077.6:g.3923487G>C	UniProt
Tcn2	O88968	p.Gly368Ser	rs251942918	missense variant	-	NC_000077.6:g.3922024C>T	UniProt
Tcn2	O88968	p.Met42Val	rs259296430	missense variant	-	NC_000077.6:g.3927523T>C	UniProt
Tcn2	O88968	p.Gly102Glu		Missense	-	-	UniProt
Tcn2	O88968	p.Tyr190His	rs215697642	missense variant	-	NC_000077.6:g.3924962A>G	UniProt
Tcn2	O88968	p.Ser236Ala	rs213502940	missense variant	-	NC_000077.6:g.3923758A>C	UniProt
Tcn2	O88968	p.Val264Leu	rs13474406	missense variant	-	NC_000077.6:g.3923555C>G	UniProt
Tcn2	O88968	p.Phe286Leu	rs1132536973	missense variant	-	NC_000077.6:g.3923487G>C	UniProt
Tcn2	O88968	p.Gly368Ser	rs251942918	missense variant	-	NC_000077.6:g.3922024C>T	UniProt
Tcn2	O88968	p.Met42Val	rs259296430	missense variant	-	NC_000077.6:g.3927523T>C	UniProt
Tcn2	O88968	p.Gly102Glu		Missense	-	-	UniProt
Tcn2	O88968	p.Tyr190His	rs215697642	missense variant	-	NC_000077.6:g.3924962A>G	UniProt
Tcn2	O88968	p.Ser236Ala	rs213502940	missense variant	-	NC_000077.6:g.3923758A>C	UniProt
Tcn2	O88968	p.Val264Leu	rs13474406	missense variant	-	NC_000077.6:g.3923555C>G	UniProt
Tcn2	O88968	p.Phe286Leu	rs1132536973	missense variant	-	NC_000077.6:g.3923487G>C	UniProt
Tcn2	O88968	p.Gly368Ser	rs251942918	missense variant	-	NC_000077.6:g.3922024C>T	UniProt
Tcn2	O88968	p.Met42Val	rs259296430	missense variant	-	NC_000077.6:g.3927523T>C	UniProt
Tcn2	O88968	p.Gly102Glu		Missense	-	-	UniProt
Tcn2	O88968	p.Tyr190His	rs215697642	missense variant	-	NC_000077.6:g.3924962A>G	UniProt
Tcn2	O88968	p.Ser236Ala	rs213502940	missense variant	-	NC_000077.6:g.3923758A>C	UniProt
Tcn2	O88968	p.Val264Leu	rs13474406	missense variant	-	NC_000077.6:g.3923555C>G	UniProt
Tcn2	O88968	p.Phe286Leu	rs1132536973	missense variant	-	NC_000077.6:g.3923487G>C	UniProt
Tcn2	O88968	p.Gly368Ser	rs251942918	missense variant	-	NC_000077.6:g.3922024C>T	UniProt
Tcn2	O88968	p.Met42Val	rs259296430	missense variant	-	NC_000077.6:g.3927523T>C	UniProt
Tcn2	O88968	p.Gly102Glu		Missense	-	-	UniProt
Tcn2	O88968	p.Tyr190His	rs215697642	missense variant	-	NC_000077.6:g.3924962A>G	UniProt
Tcn2	O88968	p.Ser236Ala	rs213502940	missense variant	-	NC_000077.6:g.3923758A>C	UniProt
Tcn2	O88968	p.Val264Leu	rs13474406	missense variant	-	NC_000077.6:g.3923555C>G	UniProt
Tcn2	O88968	p.Phe286Leu	rs1132536973	missense variant	-	NC_000077.6:g.3923487G>C	UniProt
Tcn2	O88968	p.Gly368Ser	rs251942918	missense variant	-	NC_000077.6:g.3922024C>T	UniProt
Tcn2	O88968	p.Met42Val	rs259296430	missense variant	-	NC_000077.6:g.3927523T>C	UniProt
Tcn2	O88968	p.Gly102Glu		Missense	-	-	UniProt
Tcn2	O88968	p.Tyr190His	rs215697642	missense variant	-	NC_000077.6:g.3924962A>G	UniProt
Tcn2	O88968	p.Ser236Ala	rs213502940	missense variant	-	NC_000077.6:g.3923758A>C	UniProt
Tcn2	O88968	p.Val264Leu	rs13474406	missense variant	-	NC_000077.6:g.3923555C>G	UniProt
Tcn2	O88968	p.Phe286Leu	rs1132536973	missense variant	-	NC_000077.6:g.3923487G>C	UniProt
Tcn2	O88968	p.Gly368Ser	rs251942918	missense variant	-	NC_000077.6:g.3922024C>T	UniProt
Sh3pxd2a	O89032	p.Val128Ile	rs36606779	missense variant	-	NC_000085.6:g.47364639C>T	UniProt
Sh3pxd2a	O89032	p.Gly286Asp	rs213673055	missense variant	-	NC_000085.6:g.47278376C>T	UniProt
Sh3pxd2a	O89032	p.Ala363Ser	rs259068396	missense variant	-	NC_000085.6:g.47273352C>A	UniProt
Sh3pxd2a	O89032	p.Ala586Thr	rs1132892594	missense variant	-	NC_000085.6:g.47268606C>T	UniProt
Sh3pxd2a	O89032	p.Arg599Gln	rs39418594	missense variant	-	NC_000085.6:g.47268566C>T	UniProt
Sh3pxd2a	O89032	p.Ser685Ala	rs261293778	missense variant	-	NC_000085.6:g.47268309A>C	UniProt
Sh3pxd2a	O89032	p.Ser688Ala	rs253918306	missense variant	-	NC_000085.6:g.47268300A>C	UniProt
Sh3pxd2a	O89032	p.Met803Thr	rs39173268	missense variant	-	NC_000085.6:g.47267954A>G	UniProt
Sh3pxd2a	O89032	p.Gly811Cys	rs237433365	missense variant	-	NC_000085.6:g.47267931C>A	UniProt
Sh3pxd2a	O89032	p.Ala820Val	rs225611615	missense variant	-	NC_000085.6:g.47267903G>A	UniProt
Sh3pxd2a	O89032	p.Lys934Met	rs864290588	missense variant	-	NC_000085.6:g.47267561T>A	UniProt
Cyp1a1	P00184	p.Val11Met	rs8250141	missense variant	-	NC_000075.6:g.57700121G>A	UniProt
Cyp1a1	P00184	p.Phe23Cys	rs8251360	missense variant	-	NC_000075.6:g.57700158T>G	UniProt
Cyp1a1	P00184	p.Ser168Asn	rs8250117	missense variant	-	NC_000075.6:g.57700593G>A	UniProt
Cyp1a1	P00184	p.Ser168Gly	rs265876811	missense variant	-	NC_000075.6:g.57700592A>G	UniProt
Cyp1a1	P00184	p.Tyr173His	rs8250118	missense variant	-	NC_000075.6:g.57700607T>C	UniProt
Cyp1a1	P00184	p.Leu178Phe	rs8250121	missense variant	-	NC_000075.6:g.57700622C>T	UniProt
Cyp1a1	P00184	p.Gly229Ala	rs8236816	missense variant	-	NC_000075.6:g.57700776G>C	UniProt
Cyp1a1	P00184	p.Thr452Ile	rs8250145	missense variant	-	NC_000075.6:g.57702659C>T	UniProt
Cyp1a1	P00184	p.Lys503Arg	rs8250146	missense variant	-	NC_000075.6:g.57702812A>G	UniProt
Cyp1a1	P00184	p.His521Tyr	rs8250148	missense variant	-	NC_000075.6:g.57702865C>T	UniProt
Cyp1a1	P00184	p.Val11Met	rs8250141	missense variant	-	NC_000075.6:g.57700121G>A	UniProt
Cyp1a1	P00184	p.Phe23Cys	rs8251360	missense variant	-	NC_000075.6:g.57700158T>G	UniProt
Cyp1a1	P00184	p.Ser168Gly	rs265876811	missense variant	-	NC_000075.6:g.57700592A>G	UniProt
Cyp1a1	P00184	p.Ser168Asn	rs8250117	missense variant	-	NC_000075.6:g.57700593G>A	UniProt
Cyp1a1	P00184	p.Tyr173His	rs8250118	missense variant	-	NC_000075.6:g.57700607T>C	UniProt
Cyp1a1	P00184	p.Leu178Phe	rs8250121	missense variant	-	NC_000075.6:g.57700622C>T	UniProt
Cyp1a1	P00184	p.Gly229Ala	rs8236816	missense variant	-	NC_000075.6:g.57700776G>C	UniProt
Cyp1a1	P00184	p.Thr452Ile	rs8250145	missense variant	-	NC_000075.6:g.57702659C>T	UniProt
Cyp1a1	P00184	p.Lys503Arg	rs8250146	missense variant	-	NC_000075.6:g.57702812A>G	UniProt
Cyp1a1	P00184	p.His521Tyr	rs8250148	missense variant	-	NC_000075.6:g.57702865C>T	UniProt
Tp53	P02340	p.Pro36Ser	rs233167639	missense variant	-	NC_000077.6:g.69587372C>T	UniProt
Tp53	P02340	p.Ala135Val		Missense	-	-	UniProt
Tp53	P02340	p.Glu168Gly		Missense	-	-	UniProt
Tp53	P02340	p.Leu191Arg		Missense	-	-	UniProt
Tp53	P02340	p.Ala222Val	rs230369580	missense variant	-	NC_000077.6:g.69589142C>T	UniProt
Tp53	P02340	p.Leu292Pro	rs222606827	missense variant	-	NC_000077.6:g.69589674T>C	UniProt
Tp53	P02340	p.Leu341Met	rs227103748	missense variant	-	NC_000077.6:g.69590692C>A	UniProt
Tp53	P02340	p.His351Leu	rs252887923	missense variant	-	NC_000077.6:g.69590723A>T	UniProt
Tgfb1	P04202	p.Val20Ala	rs233635431	missense variant	-	NC_000073.6:g.25687927T>C	UniProt
Krt18	P05784	p.Leu342Pro	rs13469067	missense variant	-	NC_000081.6:g.102031393T>C	UniProt
Ren1	P06281	p.Arg25Gly	rs1133798437	missense variant	-	NC_000067.6:g.133350778C>G	UniProt
Ren1	P06281	p.Trp58Arg	rs107802402	missense variant	-	NC_000067.6:g.133354206T>A	UniProt
Ren1	P06281	p.Trp58Arg		Missense	-	-	UniProt
Ren1	P06281	p.Gly59Asp	rs1134543867	missense variant	-	NC_000067.6:g.133354210G>A	UniProt
Ren1	P06281	p.Pro65Ser	rs1132448167	missense variant	-	NC_000067.6:g.133354227C>T	UniProt
Ren1	P06281	p.Thr68Ile	rs108102082	missense variant	-	NC_000067.6:g.133354237C>T	UniProt
Ren1	P06281	p.Thr68Ile		Missense	-	-	UniProt
Ren1	P06281	p.Asn69Asp	rs1133885699	missense variant	-	NC_000067.6:g.133354239A>G	UniProt
Ren1	P06281	p.Thr71Ile	rs220429640	missense variant	-	NC_000067.6:g.133354246C>T	UniProt
Ren1	P06281	p.Thr82Ser	rs107864959	missense variant	-	NC_000067.6:g.133354803C>G	UniProt
Ren1	P06281	p.Ser141Ala	rs1132908945	missense variant	-	NC_000067.6:g.133355548T>G	UniProt
Ren1	P06281	p.Ser141Tyr	rs1132112545	missense variant	-	NC_000067.6:g.133355549C>A	UniProt
Ren1	P06281	p.Ser160Leu	rs108831415	missense variant	-	NC_000067.6:g.133355606C>T	UniProt
Ren1	P06281	p.Ser160Ala	rs108611142	missense variant	-	NC_000067.6:g.133355605T>G	UniProt
Ren1	P06281	p.Ser160Val		Missense	-	-	UniProt
Ren1	P06281	p.Lys187Gln	rs1133793707	missense variant	-	NC_000067.6:g.133356457A>C	UniProt
Ren1	P06281	p.Glu220Lys	rs1133142258	missense variant	-	NC_000067.6:g.133356556G>A	UniProt
Ren1	P06281	p.Ser230Pro	rs1133659406	missense variant	-	NC_000067.6:g.133358408T>C	UniProt
Ren1	P06281	p.Gln245Glu	rs1133654558	missense variant	-	NC_000067.6:g.133358453C>G	UniProt
Ren1	P06281	p.Asn250Asp	rs1133318563	missense variant	-	NC_000067.6:g.133358468A>G	UniProt
Ren1	P06281	p.Ile256Leu	rs1132519928	missense variant	-	NC_000067.6:g.133358486A>C	UniProt
Ren1	P06281	p.Ala283Glu	rs387510810	missense variant	-	NC_000067.6:g.133358982C>A	UniProt
Ren1	P06281	p.Ile314Leu	rs1132703423	missense variant	-	NC_000067.6:g.133359074A>C	UniProt
Ren1	P06281	p.Glu315Asp	rs3166350	missense variant	-	NC_000067.6:g.133359079A>T	UniProt
Ren1	P06281	p.Glu315Gln	rs1131896803	missense variant	-	NC_000067.6:g.133359077G>C	UniProt
Ren1	P06281	p.Glu315Asp		Missense	-	-	UniProt
Ren1	P06281	p.Asn320Ser	rs1133994847	missense variant	-	NC_000067.6:g.133359344A>G	UniProt
Ren1	P06281	p.Asp333Asn	rs1132528680	missense variant	-	NC_000067.6:g.133359382G>A	UniProt
Ren1	P06281	p.Asn352Tyr	rs1134079730	missense variant	-	NC_000067.6:g.133359983A>T	UniProt
Ren1	P06281	p.Asn352Tyr		Missense	-	-	UniProt
Ren1	P06281	p.Leu360Val	rs1134647268	missense variant	-	NC_000067.6:g.133360007C>G	UniProt
Tyms	P07607	p.Ser16Gly	rs234275993	missense variant	-	NC_000071.6:g.30073502T>C	UniProt
Tyms	P07607	p.Arg21Gln	rs239408217	missense variant	-	NC_000071.6:g.30073486C>T	UniProt
Tyms	P07607	p.Pro271Gln	rs13469121	missense variant	-	NC_000071.6:g.30061108G>T	UniProt
Col4a2	P08122	p.Pro12Ser	rs265393601	missense variant	-	NC_000074.6:g.11313497C>T	UniProt
Col4a2	P08122	p.Ala144Ser	rs256194416	missense variant	-	NC_000074.6:g.11401217G>T	UniProt
Col4a2	P08122	p.Val314Ile	rs260498964	missense variant	-	NC_000074.6:g.11410088G>A	UniProt
Col4a2	P08122	p.Val314Leu	rs260498964	missense variant	-	NC_000074.6:g.11410088G>T	UniProt
Col4a2	P08122	p.Pro413Gln	rs227987128	missense variant	-	NC_000074.6:g.11415980C>A	UniProt
Col4a2	P08122	p.Leu420Pro	rs32692099	missense variant	-	NC_000074.6:g.11416001T>C	UniProt
Col4a2	P08122	p.Val571Ile	rs236890581	missense variant	-	NC_000074.6:g.11423773G>A	UniProt
Col4a2	P08122	p.Ile613Val	rs251149818	missense variant	-	NC_000074.6:g.11425414A>G	UniProt
Col4a2	P08122	p.Pro689Ser	rs252412580	missense variant	-	NC_000074.6:g.11427048C>T	UniProt
Col4a2	P08122	p.Phe704Ser	rs265769072	missense variant	-	NC_000074.6:g.11427583T>C	UniProt
Col4a2	P08122	p.Gln935Pro	rs256615642	missense variant	-	NC_000074.6:g.11434688A>C	UniProt
Col4a2	P08122	p.Ala1229Thr	rs260330680	missense variant	-	NC_000074.6:g.11441287G>A	UniProt
Col4a2	P08122	p.Ala1313Ser	rs259612167	missense variant	-	NC_000074.6:g.11443145G>T	UniProt
Col4a2	P08122	p.Ser1698Asn	rs13466312	missense variant	-	NC_000074.6:g.11448285G>A	UniProt
Hoxb7	P09024	p.Thr173Ala	rs29470842	missense variant	-	NC_000077.6:g.96289493A>G	UniProt
Itgb1	P09055	p.Leu5Gln	rs49040831	missense variant	-	NC_000074.6:g.128705426T>A	UniProt
Itgb1	P09055	p.Gln425Lys	rs212069707	missense variant	-	NC_000074.6:g.128720278C>A	UniProt
Itgb1	P09055	p.Leu670Ile	rs1133617617	missense variant	-	NC_000074.6:g.128724272C>A	UniProt
Igf2	P09535	p.Glu36Asp	rs8246103	missense variant	-	NC_000073.6:g.142655703C>A	UniProt
Igf2	P09535	p.Ser97Phe	rs248081537	missense variant	-	NC_000073.6:g.142654316G>A	UniProt
Igf2	P09535	p.Glu148Ala	rs8246116	missense variant	-	NC_000073.6:g.142653916T>G	UniProt
Igf2	P09535	p.Arg150Ser	rs8246115	missense variant	-	NC_000073.6:g.142653909T>A	UniProt
Igf2	P09535	p.Glu36Asp	rs8246103	missense variant	-	NC_000073.6:g.142655703C>A	UniProt
Igf2	P09535	p.Ser97Phe	rs248081537	missense variant	-	NC_000073.6:g.142654316G>A	UniProt
Igf2	P09535	p.Glu148Ala	rs8246116	missense variant	-	NC_000073.6:g.142653916T>G	UniProt
Igf2	P09535	p.Arg150Ser	rs8246115	missense variant	-	NC_000073.6:g.142653909T>A	UniProt
Igf2	P09535	p.Glu36Asp	rs8246103	missense variant	-	NC_000073.6:g.142655703C>A	UniProt
Igf2	P09535	p.Ser97Phe	rs248081537	missense variant	-	NC_000073.6:g.142654316G>A	UniProt
Igf2	P09535	p.Glu148Ala	rs8246116	missense variant	-	NC_000073.6:g.142653916T>G	UniProt
Igf2	P09535	p.Arg150Ser	rs8246115	missense variant	-	NC_000073.6:g.142653909T>A	UniProt
Igf2	P09535	p.Glu36Asp	rs8246103	missense variant	-	NC_000073.6:g.142655703C>A	UniProt
Igf2	P09535	p.Ser97Phe	rs248081537	missense variant	-	NC_000073.6:g.142654316G>A	UniProt
Igf2	P09535	p.Glu148Ala	rs8246116	missense variant	-	NC_000073.6:g.142653916T>G	UniProt
Igf2	P09535	p.Arg150Ser	rs8246115	missense variant	-	NC_000073.6:g.142653909T>A	UniProt
Schip1	P0DPB4	p.Val8Leu	rs30956049	missense variant	-	NC_000069.6:g.68064963G>C	UniProt
Schip1	P0DPB4	p.Gly17Asp	rs234298739	missense variant	-	NC_000069.6:g.68064991G>A	UniProt
Schip1	P0DPB4	p.Gly113Arg	rs243672142	missense variant	-	NC_000069.6:g.68494844G>C	UniProt
Schip1	P0DPB4	p.Ala124Ser	rs235599251	missense variant	-	NC_000069.6:g.68494877G>T	UniProt
Rara	P11416	p.Pro30Ser	rs16808286	missense variant	-	NC_000077.6:g.98950705C>T	UniProt
Rara	P11416	p.Asp150Glu	rs16808308	missense variant	-	NC_000077.6:g.98968167C>A	UniProt
Rara	P11416	p.Gly391Ala		Missense	-	-	UniProt
Rara	P11416	p.Ala392_Pro462del		inframe_deletion	-	-	UniProt
Rara	P11416	p.Pro30Ser	rs16808286	missense variant	-	NC_000077.6:g.98950705C>T	UniProt
Rara	P11416	p.Asp150Glu	rs16808308	missense variant	-	NC_000077.6:g.98968167C>A	UniProt
Rara	P11416	p.Gly391Ala		Missense	-	-	UniProt
Rara	P11416	p.Ala392_Pro462del		inframe_deletion	-	-	UniProt
Rara	P11416	p.Pro30Ser	rs16808286	missense variant	-	NC_000077.6:g.98950705C>T	UniProt
Rara	P11416	p.Asp150Glu	rs16808308	missense variant	-	NC_000077.6:g.98968167C>A	UniProt
Rara	P11416	p.Gly391Ala		Missense	-	-	UniProt
Rara	P11416	p.Ala392_Pro462del		inframe_deletion	-	-	UniProt
Rara	P11416	p.Pro30Ser	rs16808286	missense variant	-	NC_000077.6:g.98950705C>T	UniProt
Rara	P11416	p.Asp150Glu	rs16808308	missense variant	-	NC_000077.6:g.98968167C>A	UniProt
Rara	P11416	p.Gly391Ala		Missense	-	-	UniProt
Rara	P11416	p.Ala392_Pro462del		inframe_deletion	-	-	UniProt
Itga5	P11688	p.Pro27Leu	rs225568978	missense variant	-	NC_000081.6:g.103366447G>A	UniProt
Itga5	P11688	p.Ser881Leu	rs255217836	missense variant	-	NC_000081.6:g.103349625G>A	UniProt
Itga5	P11688	p.Pro976Thr	rs1132381997	missense variant	-	NC_000081.6:g.103346610G>T	UniProt
Msx1	P13297	p.Gly90Ala	rs214078493	missense variant	-	NC_000071.6:g.37824065C>G	UniProt
Fgfr1	P16092	p.Val40Ala	rs47309288	missense variant	-	NC_000074.6:g.25555535T>C	UniProt
Fgfr1	P16092	p.Thr141Ala	rs249024346	missense variant	-	NC_000074.6:g.25557793A>G	UniProt
Pah	P16331	p.Val106Ala		Missense	-	-	UniProt
Pah	P16331	p.Phe263Ser		Missense	-	-	UniProt
Pah	P16331	p.Asp338Glu	rs36599815	missense variant	-	NC_000076.6:g.87578304T>G	UniProt
Pah	P16331	p.Thr372Ile	rs217549350	missense variant	-	NC_000076.6:g.87578902C>T	UniProt
Rarg	P18911	p.Gly31Ser	rs16821854	missense variant	-	NC_000081.6:g.102252512C>T	UniProt
Rarg	P18911	p.Ser176Leu	rs260332108	missense variant	-	NC_000081.6:g.102240237G>A	UniProt
Serpinh1	P19324	p.Thr8Ala	rs213654351	missense variant	-	NC_000073.6:g.99349400T>C	UniProt
Serpinh1	P19324	p.Ala291Thr	rs256410679	missense variant	-	NC_000073.6:g.99347005C>T	UniProt
Serpinh1	P19324	p.Thr8Ala	rs213654351	missense variant	-	NC_000073.6:g.99349400T>C	UniProt
Serpinh1	P19324	p.Ala291Thr	rs256410679	missense variant	-	NC_000073.6:g.99347005C>T	UniProt
Serpinh1	P19324	p.Thr8Ala	rs213654351	missense variant	-	NC_000073.6:g.99349400T>C	UniProt
Serpinh1	P19324	p.Ala291Thr	rs256410679	missense variant	-	NC_000073.6:g.99347005C>T	UniProt
Serpinh1	P19324	p.Thr8Ala	rs213654351	missense variant	-	NC_000073.6:g.99349400T>C	UniProt
Serpinh1	P19324	p.Ala291Thr	rs256410679	missense variant	-	NC_000073.6:g.99347005C>T	UniProt
Hspa5	P20029	p.Thr167Ile	rs13460299	missense variant	-	NC_000068.7:g.34773825C>T	UniProt
Hspa5	P20029	p.Thr167Ile	rs13460299	missense variant	-	NC_000068.7:g.34773825C>T	UniProt
Gdf1	P20863	p.His52Leu	rs237572100	missense variant	-	NC_000074.6:g.70330136A>T	UniProt
Gdf1	P20863	p.Ser145Cys	rs32650885	missense variant	-	NC_000074.6:g.70330836A>T	UniProt
Gdf1	P20863	p.Val155Met	rs215847308	missense variant	-	NC_000074.6:g.70330866G>A	UniProt
Gdf1	P20863	p.Ala161Thr	rs47220823	missense variant	-	NC_000074.6:g.70330884G>A	UniProt
Gdf1	P20863	p.His52Leu	rs237572100	missense variant	-	NC_000074.6:g.70330136A>T	UniProt
Gdf1	P20863	p.Ser145Cys	rs32650885	missense variant	-	NC_000074.6:g.70330836A>T	UniProt
Gdf1	P20863	p.Val155Met	rs215847308	missense variant	-	NC_000074.6:g.70330866G>A	UniProt
Gdf1	P20863	p.Ala161Thr	rs47220823	missense variant	-	NC_000074.6:g.70330884G>A	UniProt
Bmp2	P21274	p.Arg213Gln	rs243487586	missense variant	-	NC_000068.7:g.133561168G>A	UniProt
Abcb1a	P21447	p.Ser88Asn	rs31417886	missense variant	-	NC_000071.6:g.8674831G>A	UniProt
Abcb1a	P21447	p.Met91Ile	rs244105348	missense variant	-	NC_000071.6:g.8674841G>A	UniProt
Abcb1a	P21447	p.Asp95Asn	rs217202515	missense variant	-	NC_000071.6:g.8683392G>A	UniProt
Abcb1a	P21447	p.Phe131Leu	rs31419904	missense variant	-	NC_000071.6:g.8685285T>C	UniProt
Abcb1a	P21447	p.Lys363Asn	rs240310159	missense variant	-	NC_000071.6:g.8701710A>T	UniProt
Abcb1a	P21447	p.Asp444Glu	rs254265652	missense variant	-	NC_000071.6:g.8702272T>G	UniProt
Abcb1a	P21447	p.Met446Val	rs265821827	missense variant	-	NC_000071.6:g.8702276A>G	UniProt
Abcb1a	P21447	p.Ala505Pro	rs864273043	missense variant	-	NC_000071.6:g.8702543G>C	UniProt
Abcb1a	P21447	p.Gly529Arg	rs864303343	missense variant	-	NC_000071.6:g.8702835G>A	UniProt
Abcb1a	P21447	p.Asp609Glu	rs228638731	missense variant	-	NC_000071.6:g.8713300T>G	UniProt
Abcb1a	P21447	p.Pro740Ser	rs262661371	missense variant	-	NC_000071.6:g.8718997C>T	UniProt
Abcb1a	P21447	p.Leu754Val	rs1134323936	missense variant	-	NC_000071.6:g.8719039T>G	UniProt
Abcb1a	P21447	p.Phe755Tyr	rs1134894857	missense variant	-	NC_000071.6:g.8719043T>A	UniProt
Abcb1a	P21447	p.Ile757Val	rs229978426	missense variant	-	NC_000071.6:g.8719048A>G	UniProt
Abcb1a	P21447	p.Ala927Ser	rs238566954	missense variant	-	NC_000071.6:g.8733603G>T	UniProt
Abcb1a	P21447	p.Thr961Ala	rs256545593	missense variant	-	NC_000071.6:g.8733705A>G	UniProt
Abcb1a	P21447	p.Thr998Lys	rs230481900	missense variant	-	NC_000071.6:g.8737692C>A	UniProt
Abcb1a	P21447	p.Thr1011Ile	rs260713322	missense variant	-	NC_000071.6:g.8737731C>T	UniProt
Abcb1a	P21447	p.Val1037Met	rs232731033	missense variant	-	NC_000071.6:g.8738731G>A	UniProt
Abcb1a	P21447	p.Ser1045Asn	rs251200996	missense variant	-	NC_000071.6:g.8738756G>A	UniProt
Abcb1a	P21447	p.Gln1108His	rs31418766	missense variant	-	NC_000071.6:g.8740462G>C	UniProt
Abcb1a	P21447	p.Ala1271Thr	rs215635890	missense variant	-	NC_000071.6:g.8747541G>A	UniProt
Edn1	P22387	p.Ser38Thr	rs228888123	missense variant	-	NC_000079.6:g.42303605G>C	UniProt
Edn1	P22387	p.Ser139Gly	rs51605614	missense variant	-	NC_000079.6:g.42305277A>G	UniProt
Edn2	P22389	p.Ser3Phe	rs27502234	missense variant	-	NC_000070.6:g.120161517C>T	UniProt
Edn2	P22389	p.Ala4Thr	rs27502233	missense variant	-	NC_000070.6:g.120161519G>A	UniProt
Edn2	P22389	p.Gln29His	rs238307905	missense variant	-	NC_000070.6:g.120161902G>T	UniProt
Wnt5a	P22725	p.His206Tyr	rs219767849	missense variant	-	NC_000080.6:g.28518510C>T	UniProt
Wnt5a	P22725	p.Arg277Lys	rs16808124	missense variant	-	NC_000080.6:g.28522627G>A	UniProt
Wnt6	P22727	p.Asp22Gly	rs223944095	missense variant	-	NC_000067.6:g.74772210A>G	UniProt
Pcgf2	P23798	p.Thr29Pro	rs226886007	missense variant	-	NC_000077.6:g.97693443T>G	UniProt
Pcgf2	P23798	p.Thr29Pro	rs226886007	missense variant	-	NC_000077.6:g.97693443T>G	UniProt
Pcgf2	P23798	p.Thr29Pro	rs226886007	missense variant	-	NC_000077.6:g.97693443T>G	UniProt
Pcgf2	P23798	p.Thr29Pro	rs226886007	missense variant	-	NC_000077.6:g.97693443T>G	UniProt
Mdm2	P23804	p.Arg124Cys	rs214732409	missense variant	-	NC_000076.6:g.117696410G>A	UniProt
Mdm2	P23804	p.Leu136Val	rs8266508	missense variant	-	NC_000076.6:g.117696043A>C	UniProt
Mdm2	P23804	p.Ile150Val	rs8266509	missense variant	-	NC_000076.6:g.117696001T>C	UniProt
Mdm2	P23804	p.Met198Ile	rs229034512	missense variant	-	NC_000076.6:g.117694971C>T	UniProt
Mdm2	P23804	p.Gly201Ser	rs260421395	missense variant	-	NC_000076.6:g.117694964C>T	UniProt
Mdm2	P23804	p.Ser251Ala	rs1132486267	missense variant	-	NC_000076.6:g.117692647A>C	UniProt
Mdm2	P23804	p.Ser251Tyr	rs1135381976	missense variant	-	NC_000076.6:g.117692646G>T	UniProt
Mdm2	P23804	p.Leu252Pro	rs1132993555	missense variant	-	NC_000076.6:g.117692643A>G	UniProt
Mdm2	P23804	p.Gly282Ala	rs253092238	missense variant	-	NC_000076.6:g.117691194C>G	UniProt
Mdm2	P23804	p.Thr286Ala	rs234147634	missense variant	-	NC_000076.6:g.117691183T>C	UniProt
Mdm2	P23804	p.Asp330Glu	rs247355666	missense variant	-	NC_000076.6:g.117690690G>T	UniProt
Mdm2	P23804	p.Asp331Gly	rs222925063	missense variant	-	NC_000076.6:g.117690688T>C	UniProt
Mdm2	P23804	p.Val337Leu	rs238897752	missense variant	-	NC_000076.6:g.117690671C>A	UniProt
Bmi1	P25916	p.Val191Ile	rs264925414	missense variant	-	NC_000068.7:g.18683992G>A	UniProt
Bmi1	P25916	p.Ala300Gly	rs578475686	missense variant	-	NC_000068.7:g.18684405C>G	UniProt
Bmi1	P25916	p.Leu315Ile	rs581760445	missense variant	-	NC_000068.7:g.18684449C>A	UniProt
Bmi1	P25916	p.Val191Ile	rs264925414	missense variant	-	NC_000068.7:g.18683992G>A	UniProt
Bmi1	P25916	p.Ala300Gly	rs578475686	missense variant	-	NC_000068.7:g.18684405C>G	UniProt
Bmi1	P25916	p.Leu315Ile	rs581760445	missense variant	-	NC_000068.7:g.18684449C>A	UniProt
Pdgfra	P26618	p.Gly1005Ser	rs29589395	missense variant	-	NC_000071.6:g.75192563G>A	UniProt
Pdgfra	P26618	p.Gly1005Ser	rs29589395	missense variant	-	NC_000071.6:g.75192563G>A	UniProt
Wnt3a	P27467	p.Asp270His	rs26942846	missense variant	-	NC_000077.6:g.59249881C>G	UniProt
Col2a1	P28481	p.Arg22Gln	rs36914246	missense variant	-	NC_000081.6:g.98004429C>T	UniProt
Col2a1	P28481	p.Arg112Lys	rs264865802	missense variant	-	NC_000081.6:g.97998858C>T	UniProt
Col2a1	P28481	p.Thr539Ala	rs31603207	missense variant	-	NC_000081.6:g.97987550T>C	UniProt
Col2a1	P28481	p.Thr727Ile	rs226262171	missense variant	-	NC_000081.6:g.97984733G>A	UniProt
Col2a1	P28481	p.Ala733Ser	rs220108053	missense variant	-	NC_000081.6:g.97984466C>A	UniProt
Col2a1	P28481	p.Arg989Cys		Missense	-	-	UniProt
Col2a1	P28481	p.Ile1347Val	rs263901005	missense variant	-	NC_000081.6:g.97977217T>C	UniProt
Col2a1	P28481	p.Val1449Ile	rs259564929	missense variant	-	NC_000081.6:g.97976159C>T	UniProt
Kif2a	P28740	p.Ser83Ala	rs259364558	missense variant	-	NC_000079.6:g.106993192A>C	UniProt
Kif2a	P28740	p.Val100Ile	rs238078291	missense variant	-	NC_000079.6:g.106990071C>T	UniProt
Kif2a	P28740	p.Pro105Leu	rs1134570147	missense variant	-	NC_000079.6:g.106990055G>A	UniProt
Kif2a	P28740	p.Pro106Ser	rs1134469941	missense variant	-	NC_000079.6:g.106990053G>A	UniProt
Kif2a	P28740	p.Arg107Gly	rs1131934740	missense variant	-	NC_000079.6:g.106990050T>C	UniProt
Kif3a	P28741	p.Lys404Arg	rs235295691	missense variant	-	NC_000077.6:g.53586916A>G	UniProt
Kif3a	P28741	p.Met683Ile	rs260820274	missense variant	-	NC_000077.6:g.53598823G>A	UniProt
Kif3a	P28741	p.Met683Thr	rs217189586	missense variant	-	NC_000077.6:g.53598822T>C	UniProt
Ccn2	P29268	p.Met24Ile	rs8254418	missense variant	-	NC_000076.6:g.24595884G>C	UniProt
Ccn2	P29268	p.Met24Thr	rs8254419	missense variant	-	NC_000076.6:g.24595883T>C	UniProt
Hoxa2	P31245	p.Val71Ala	rs236006696	missense variant	-	NC_000072.6:g.52164433A>G	UniProt
Hoxa2	P31245	p.Ser135Gly	rs258939452	missense variant	-	NC_000072.6:g.52163602T>C	UniProt
Meox2	P32443	p.Glu289Asp	rs29159246	missense variant	-	NC_000078.6:g.37178332G>C	UniProt
Nectin2	P32507	p.Thr198Ile	rs216178077	missense variant	-	NC_000073.6:g.19733070G>A	UniProt
Nectin2	P32507	p.Arg249Leu	rs241241762	missense variant	-	NC_000073.6:g.19732917C>A	UniProt
Nectin2	P32507	p.Val293Ile	rs253587222	missense variant	-	NC_000073.6:g.19730176C>T	UniProt
Nectin2	P32507	p.Gly367Ser	rs580367542	missense variant	-	NC_000073.6:g.19721423C>T	UniProt
Ptpn11	P35235	p.Gly60Ala	rs864285266	missense variant	-	NC_000071.6:g.121168002C>G	UniProt
Folr1	P35846	p.Thr60Met	rs237467108	missense variant	-	NC_000073.6:g.101859538G>A	UniProt
Folr1	P35846	p.Thr66Lys	rs220541814	missense variant	-	NC_000073.6:g.101859520G>T	UniProt
Folr1	P35846	p.His174Arg	rs264916709	missense variant	-	NC_000073.6:g.101858711T>C	UniProt
Folr1	P35846	p.Phe236Leu	rs47631647	missense variant	-	NC_000073.6:g.101858526A>G	UniProt
Folr1	P35846	p.Val253Met	rs258338528	missense variant	-	NC_000073.6:g.101858475C>T	UniProt
Folr1	P35846	p.Thr60Met	rs237467108	missense variant	-	NC_000073.6:g.101859538G>A	UniProt
Folr1	P35846	p.Thr66Lys	rs220541814	missense variant	-	NC_000073.6:g.101859520G>T	UniProt
Folr1	P35846	p.His174Arg	rs264916709	missense variant	-	NC_000073.6:g.101858711T>C	UniProt
Folr1	P35846	p.Phe236Leu	rs47631647	missense variant	-	NC_000073.6:g.101858526A>G	UniProt
Folr1	P35846	p.Val253Met	rs258338528	missense variant	-	NC_000073.6:g.101858475C>T	UniProt
Folr1	P35846	p.Thr60Met	rs237467108	missense variant	-	NC_000073.6:g.101859538G>A	UniProt
Folr1	P35846	p.Thr66Lys	rs220541814	missense variant	-	NC_000073.6:g.101859520G>T	UniProt
Folr1	P35846	p.His174Arg	rs264916709	missense variant	-	NC_000073.6:g.101858711T>C	UniProt
Folr1	P35846	p.Phe236Leu	rs47631647	missense variant	-	NC_000073.6:g.101858526A>G	UniProt
Folr1	P35846	p.Val253Met	rs258338528	missense variant	-	NC_000073.6:g.101858475C>T	UniProt
Folr1	P35846	p.Thr60Met	rs237467108	missense variant	-	NC_000073.6:g.101859538G>A	UniProt
Folr1	P35846	p.Thr66Lys	rs220541814	missense variant	-	NC_000073.6:g.101859520G>T	UniProt
Folr1	P35846	p.His174Arg	rs264916709	missense variant	-	NC_000073.6:g.101858711T>C	UniProt
Folr1	P35846	p.Phe236Leu	rs47631647	missense variant	-	NC_000073.6:g.101858526A>G	UniProt
Folr1	P35846	p.Val253Met	rs258338528	missense variant	-	NC_000073.6:g.101858475C>T	UniProt
Folr1	P35846	p.Thr60Met	rs237467108	missense variant	-	NC_000073.6:g.101859538G>A	UniProt
Folr1	P35846	p.Thr66Lys	rs220541814	missense variant	-	NC_000073.6:g.101859520G>T	UniProt
Folr1	P35846	p.His174Arg	rs264916709	missense variant	-	NC_000073.6:g.101858711T>C	UniProt
Folr1	P35846	p.Phe236Leu	rs47631647	missense variant	-	NC_000073.6:g.101858526A>G	UniProt
Folr1	P35846	p.Val253Met	rs258338528	missense variant	-	NC_000073.6:g.101858475C>T	UniProt
Bmpr1a	P36895	p.Asp40Glu	rs256984720	missense variant	-	NC_000080.6:g.34443929G>C	UniProt
Bmpr1a	P36895	p.Arg188His	rs49480383	missense variant	-	NC_000080.6:g.34429768C>T	UniProt
Bmpr1a	P36895	p.Ser365Ile	rs1135307068	missense variant	-	NC_000080.6:g.34422632C>A	UniProt
Bmpr1a	P36895	p.Gly374Arg	rs1132896634	missense variant	-	NC_000080.6:g.34422606C>T	UniProt
Bmpr1a	P36895	p.Gly374Ala	rs1132276130	missense variant	-	NC_000080.6:g.34422605C>G	UniProt
Bmpr1a	P36895	p.Ile378Ser	rs1133565958	missense variant	-	NC_000080.6:g.34422593A>C	UniProt
Bmpr1a	P36895	p.Ala379Pro	rs1133203486	missense variant	-	NC_000080.6:g.34422591C>G	UniProt
Bmpr1a	P36895	p.Leu381Gln	rs1133866390	missense variant	-	NC_000080.6:g.34422584A>T	UniProt
Bmpr1a	P36895	p.Gly382Cys	rs1133237958	missense variant	-	NC_000080.6:g.34422582C>A	UniProt
Bmpr1b	P36898	p.Met466Leu	rs232732589	missense variant	-	NC_000069.6:g.141840728T>A	UniProt
Bmpr1b	P36898	p.Met466Leu	rs232732589	missense variant	-	NC_000069.6:g.141840728T>A	UniProt
Bmpr1b	P36898	p.Met466Leu	rs232732589	missense variant	-	NC_000069.6:g.141840728T>A	UniProt
Bmpr1b	P36898	p.Met466Leu	rs232732589	missense variant	-	NC_000069.6:g.141840728T>A	UniProt
Acvr1	P37172	p.Pro115Ser	rs27909411	missense variant	-	NC_000068.7:g.58477805G>A	UniProt
Acvr1	P37172	p.Trp412Arg	rs864280404	missense variant	-	NC_000068.7:g.58458915A>G	UniProt
Acvr1	P37172	p.Pro115Ser	rs27909411	missense variant	-	NC_000068.7:g.58477805G>A	UniProt
Acvr1	P37172	p.Trp412Arg	rs864280404	missense variant	-	NC_000068.7:g.58458915A>G	UniProt
Acvr1	P37172	p.Pro115Ser	rs27909411	missense variant	-	NC_000068.7:g.58477805G>A	UniProt
Acvr1	P37172	p.Trp412Arg	rs864280404	missense variant	-	NC_000068.7:g.58458915A>G	UniProt
Acvr1	P37172	p.Pro115Ser	rs27909411	missense variant	-	NC_000068.7:g.58477805G>A	UniProt
Acvr1	P37172	p.Trp412Arg	rs864280404	missense variant	-	NC_000068.7:g.58458915A>G	UniProt
Fgf8	P37237	p.Asn37Asp	rs226205582	missense variant	-	NC_000085.6:g.45742476T>C	UniProt
Dnm2	P39054	p.Gln483Ter	rs45979380	stop gained	-	NC_000075.6:g.21485675C>T	UniProt
Dnm2	P39054	p.Thr642Ser	rs227316696	missense variant	-	NC_000075.6:g.21503572A>T	UniProt
Sox6	P40645	p.Met47Ile	rs228427814	missense variant	-	NC_000073.6:g.115801465C>T	UniProt
Sox6	P40645	p.Gln514His	rs6162314	missense variant	-	NC_000073.6:g.115541700T>A	UniProt
Sox6	P40645	p.Met47Ile	rs228427814	missense variant	-	NC_000073.6:g.115801465C>T	UniProt
Sox6	P40645	p.Gln514His	rs6162314	missense variant	-	NC_000073.6:g.115541700T>A	UniProt
Mmp9	P41245	p.Lys264Thr	rs228710137	missense variant	-	NC_000068.7:g.164950088A>C	UniProt
Mmp9	P41245	p.Arg312His	rs260975498	missense variant	-	NC_000068.7:g.164950412G>A	UniProt
Mmp9	P41245	p.Ser359Pro	rs28262063	missense variant	-	NC_000068.7:g.164950902T>C	UniProt
Mmp9	P41245	p.Arg367Ser	rs28262062	missense variant	-	NC_000068.7:g.164950928G>T	UniProt
Mmp9	P41245	p.Pro514Ala	rs28262053	missense variant	-	NC_000068.7:g.164952629C>G	UniProt
Mmp9	P41245	p.Pro514Ala		Missense	-	-	UniProt
Mmp9	P41245	p.Leu639Pro	rs13475086	missense variant	-	NC_000068.7:g.164953375T>C	UniProt
Mmp9	P41245	p.Leu639Pro		Missense	-	-	UniProt
Mmp9	P41245	p.Arg649His	rs235225876	missense variant	-	NC_000068.7:g.164953405G>A	UniProt
Mmp9	P41245	p.His711Pro	rs28262043	missense variant	-	NC_000068.7:g.164954845A>C	UniProt
Mmp9	P41245	p.His711Pro		Missense	-	-	UniProt
Nodal	P43021	p.Thr70Ala	rs248570317	missense variant	-	NC_000076.6:g.61422993A>G	UniProt
Nodal	P43021	p.Trp91Arg	rs235806868	missense variant	-	NC_000076.6:g.61423056T>C	UniProt
Nodal	P43021	p.Gly100Arg	rs224515847	missense variant	-	NC_000076.6:g.61423083G>C	UniProt
Nodal	P43021	p.Ala118Thr	rs257194383	missense variant	-	NC_000076.6:g.61423137G>A	UniProt
Nodal	P43021	p.Tyr186His	rs260031776	missense variant	-	NC_000076.6:g.61423341T>C	UniProt
Itgav	P43406	p.Ala872Gly	rs29498435	missense variant	-	NC_000068.7:g.83797373C>G	UniProt
Itgav	P43406	p.Asn880Ser	rs226068382	missense variant	-	NC_000068.7:g.83797397A>G	UniProt
Itgav	P43406	p.Asp887Gly	rs247550252	missense variant	-	NC_000068.7:g.83797418A>G	UniProt
Itgav	P43406	p.Ala921Ser	rs29668793	missense variant	-	NC_000068.7:g.83801836G>T	UniProt
Itgav	P43406	p.Ile964Leu	rs219303151	missense variant	-	NC_000068.7:g.83802059A>C	UniProt
Pax7	P47239	p.Ala233Val	rs212836308	missense variant	-	NC_000070.6:g.139784565G>A	UniProt
Pax9	P47242	p.Gly296Ser	rs213354297	missense variant	-	NC_000078.6:g.56709764G>A	UniProt
Pax9	P47242	p.Gly296Ser	rs213354297	missense variant	-	NC_000078.6:g.56709764G>A	UniProt
Tgfa	P48030	p.Thr5Ile	rs212241800	missense variant	-	NC_000072.6:g.86195519C>T	UniProt
Tgfa	P48030	p.Gly57Glu	rs13462262	missense variant	-	NC_000072.6:g.86263234G>A	UniProt
Ednrb	P48302	p.Arg65Gly	rs30734814	missense variant	-	NC_000080.6:g.103843284G>C	UniProt
Ednrb	P48302	p.Val228Ala	rs4230541	missense variant	-	NC_000080.6:g.103823173A>G	UniProt
Ednrb	P48302	p.Arg65Gly	rs30734814	missense variant	-	NC_000080.6:g.103843284G>C	UniProt
Ednrb	P48302	p.Val228Ala	rs4230541	missense variant	-	NC_000080.6:g.103823173A>G	UniProt
Ednrb	P48302	p.Arg65Gly	rs30734814	missense variant	-	NC_000080.6:g.103843284G>C	UniProt
Ednrb	P48302	p.Val228Ala	rs4230541	missense variant	-	NC_000080.6:g.103823173A>G	UniProt
Gad2	P48320	p.Asn81Ser	rs249514840	missense variant	-	NC_000068.7:g.22623794A>G	UniProt
Gad2	P48320	p.Thr338Asn	rs1134763473	missense variant	-	NC_000068.7:g.22668284C>A	UniProt
Cdkn1c	P49919	p.Arg194Gln	rs250535247	missense variant	-	NC_000073.6:g.143460127C>T	UniProt
Cdkn1c	P49919	p.Glu254Asp	rs256177488	missense variant	-	NC_000073.6:g.143459946C>G	UniProt
Cdkn1c	P49919	p.Pro259Ser	rs244474378	missense variant	-	NC_000073.6:g.143459933G>A	UniProt
Efnb2	P52800	p.Ala177Thr	rs29707126	missense variant	-	NC_000074.6:g.8622424C>T	UniProt
Mmp14	P53690	p.Ala313Thr	rs249293462	missense variant	-	NC_000080.6:g.54438751G>A	UniProt
Mmp14	P53690	p.Arg339Gln	rs219117255	missense variant	-	NC_000080.6:g.54439015G>A	UniProt
Mmp14	P53690	p.Trp505Cys	rs13467088	missense variant	-	NC_000080.6:g.54440438G>C	UniProt
Mmp14	P53690	p.Val552Ile	rs220938537	missense variant	-	NC_000080.6:g.54440577G>A	UniProt
Rad23b	P54728	p.Thr88Ala	rs242485632	missense variant	-	NC_000070.6:g.55370237A>G	UniProt
Rad23b	P54728	p.Ala98Thr	rs27791578	missense variant	-	NC_000070.6:g.55370267G>A	UniProt
Rad23b	P54728	p.Pro118Ala	rs27791577	missense variant	-	NC_000070.6:g.55370327C>G	UniProt
Rad23b	P54728	p.Ala127Thr	rs27791576	missense variant	-	NC_000070.6:g.55370354G>A	UniProt
Rad23b	P54728	p.Ser337Gly	rs32139950	missense variant	-	NC_000070.6:g.55385473A>G	UniProt
Rad23b	P54728	p.Gly341Glu	rs864271988	missense variant	-	NC_000070.6:g.55385486G>A	UniProt
Ephb2	P54763	p.Ala228Ser	rs240353516	missense variant	-	NC_000070.6:g.136771085C>A	UniProt
Ephb2	P54763	p.Gly368Ser	rs234527532	missense variant	-	NC_000070.6:g.136693936C>T	UniProt
Mafb	P54841	p.Gln157Pro	rs246289924	missense variant	-	NC_000068.7:g.160366207T>G	UniProt
Smo	P56726	p.Val39Ala	rs213534114	missense variant	-	NC_000072.6:g.29736126T>C	UniProt
Smo	P56726	p.His45Arg	rs230479111	missense variant	-	NC_000072.6:g.29736144A>G	UniProt
Smo	P56726	p.Ser51Ala	rs256495993	missense variant	-	NC_000072.6:g.29736161T>G	UniProt
Smo	P56726	p.Asp54Asn	rs30765548	missense variant	-	NC_000072.6:g.29736170G>A	UniProt
Smo	P56726	p.Ala71Val	rs263803957	missense variant	-	NC_000072.6:g.29736222C>T	UniProt
Smo	P56726	p.Arg690Gly	rs30156064	missense variant	-	NC_000072.6:g.29759971A>G	UniProt
Smo	P56726	p.Ter794AlaArgGlyGluUnkThrThrGluArgUnkUnk	rs29618938	stop lost	-	NC_000072.6:g.29760283T>A	UniProt
Opa1	P58281	p.Val28Ile	rs50366188	missense variant	-	NC_000082.6:g.29586067G>A	UniProt
Opa1	P58281	p.Leu30Phe	rs239758422	missense variant	-	NC_000082.6:g.29586073C>T	UniProt
Opa1	P58281	p.Arg42Cys	rs50616240	missense variant	-	NC_000082.6:g.29586109C>T	UniProt
Opa1	P58281	p.Lys908Arg	rs13465295	missense variant	-	NC_000082.6:g.29630099A>G	UniProt
Opa1	P58281	p.Lys923Glu	rs13465294	missense variant	-	NC_000082.6:g.29630143A>G	UniProt
Foxp2	P58463	p.Ser320Ala	rs218670808	missense variant	-	NC_000072.6:g.15394825T>G	UniProt
Foxp2	P58463	p.Ser320Ala	rs218670808	missense variant	-	NC_000072.6:g.15394825T>G	UniProt
Csrnp1	P59054	p.Pro70Leu	rs239385200	missense variant	-	NC_000075.6:g.119974410G>A	UniProt
Csrnp1	P59054	p.Glu79Ala	rs33434397	missense variant	-	NC_000075.6:g.119974383T>G	UniProt
Csrnp1	P59054	p.Leu312Val	rs229952956	missense variant	-	NC_000075.6:g.119973058G>C	UniProt
Csrnp1	P59054	p.Ala325Pro	rs217117107	missense variant	-	NC_000075.6:g.119973019C>G	UniProt
Csrnp1	P59054	p.Ala325Val	rs246200699	missense variant	-	NC_000075.6:g.119973018G>A	UniProt
Csrnp1	P59054	p.Ser337Asn	rs228941869	missense variant	-	NC_000075.6:g.119972982C>T	UniProt
Csrnp1	P59054	p.Asn365Ser	rs237857200	missense variant	-	NC_000075.6:g.119972898T>C	UniProt
Csrnp1	P59054	p.Ala445Val	rs33432571	missense variant	-	NC_000075.6:g.119972658G>A	UniProt
Csrnp1	P59054	p.Asp483Glu	rs235825105	missense variant	-	NC_000075.6:g.119972543G>C	UniProt
Csrnp1	P59054	p.Ser521Leu	rs252283834	missense variant	-	NC_000075.6:g.119972430G>A	UniProt
Csrnp1	P59054	p.Val551Met	rs33432569	missense variant	-	NC_000075.6:g.119972341C>T	UniProt
Csrnp1	P59054	p.Glu559Asp	rs222783240	missense variant	-	NC_000075.6:g.119972315T>A	UniProt
Csrnp1	P59054	p.Pro70Leu	rs239385200	missense variant	-	NC_000075.6:g.119974410G>A	UniProt
Csrnp1	P59054	p.Glu79Ala	rs33434397	missense variant	-	NC_000075.6:g.119974383T>G	UniProt
Csrnp1	P59054	p.Leu312Val	rs229952956	missense variant	-	NC_000075.6:g.119973058G>C	UniProt
Csrnp1	P59054	p.Ala325Pro	rs217117107	missense variant	-	NC_000075.6:g.119973019C>G	UniProt
Csrnp1	P59054	p.Ala325Val	rs246200699	missense variant	-	NC_000075.6:g.119973018G>A	UniProt
Csrnp1	P59054	p.Ser337Asn	rs228941869	missense variant	-	NC_000075.6:g.119972982C>T	UniProt
Csrnp1	P59054	p.Asn365Ser	rs237857200	missense variant	-	NC_000075.6:g.119972898T>C	UniProt
Csrnp1	P59054	p.Ala445Val	rs33432571	missense variant	-	NC_000075.6:g.119972658G>A	UniProt
Csrnp1	P59054	p.Asp483Glu	rs235825105	missense variant	-	NC_000075.6:g.119972543G>C	UniProt
Csrnp1	P59054	p.Ser521Leu	rs252283834	missense variant	-	NC_000075.6:g.119972430G>A	UniProt
Csrnp1	P59054	p.Val551Met	rs33432569	missense variant	-	NC_000075.6:g.119972341C>T	UniProt
Csrnp1	P59054	p.Glu559Asp	rs222783240	missense variant	-	NC_000075.6:g.119972315T>A	UniProt
Csrnp1	P59054	p.Pro70Leu	rs239385200	missense variant	-	NC_000075.6:g.119974410G>A	UniProt
Csrnp1	P59054	p.Glu79Ala	rs33434397	missense variant	-	NC_000075.6:g.119974383T>G	UniProt
Csrnp1	P59054	p.Leu312Val	rs229952956	missense variant	-	NC_000075.6:g.119973058G>C	UniProt
Csrnp1	P59054	p.Ala325Val	rs246200699	missense variant	-	NC_000075.6:g.119973018G>A	UniProt
Csrnp1	P59054	p.Ala325Pro	rs217117107	missense variant	-	NC_000075.6:g.119973019C>G	UniProt
Csrnp1	P59054	p.Ser337Asn	rs228941869	missense variant	-	NC_000075.6:g.119972982C>T	UniProt
Csrnp1	P59054	p.Asn365Ser	rs237857200	missense variant	-	NC_000075.6:g.119972898T>C	UniProt
Csrnp1	P59054	p.Ala445Val	rs33432571	missense variant	-	NC_000075.6:g.119972658G>A	UniProt
Csrnp1	P59054	p.Asp483Glu	rs235825105	missense variant	-	NC_000075.6:g.119972543G>C	UniProt
Csrnp1	P59054	p.Ser521Leu	rs252283834	missense variant	-	NC_000075.6:g.119972430G>A	UniProt
Csrnp1	P59054	p.Val551Met	rs33432569	missense variant	-	NC_000075.6:g.119972341C>T	UniProt
Csrnp1	P59054	p.Glu559Asp	rs222783240	missense variant	-	NC_000075.6:g.119972315T>A	UniProt
Adamts20	P59511	p.Gly69Arg	rs236977222	missense variant	-	NC_000081.6:g.94403437C>T	UniProt
Adamts20	P59511	p.Pro116Leu	rs581889454	missense variant	-	NC_000081.6:g.94403295G>A	UniProt
Adamts20	P59511	p.Ala174Val	rs221764297	missense variant	-	NC_000081.6:g.94394707G>A	UniProt
Adamts20	P59511	p.Ser218Asn	rs250920178	missense variant	-	NC_000081.6:g.94379927C>T	UniProt
Adamts20	P59511	p.Thr222Arg	rs32119539	missense variant	-	NC_000081.6:g.94379915G>C	UniProt
Adamts20	P59511	p.Pro339Leu	rs1133911867	missense variant	-	NC_000081.6:g.94361801G>A	UniProt
Adamts20	P59511	p.His502Gln	rs212507928	missense variant	-	NC_000081.6:g.94349200G>C	UniProt
Adamts20	P59511	p.Asn882Ser	rs219945673	missense variant	-	NC_000081.6:g.94333662T>C	UniProt
Adamts20	P59511	p.Met898Ile	rs234781537	missense variant	-	NC_000081.6:g.94333613C>T	UniProt
Adamts20	P59511	p.Met898Thr	rs251217797	missense variant	-	NC_000081.6:g.94333614A>G	UniProt
Adamts20	P59511	p.Ile907Thr	rs33901954	missense variant	-	NC_000081.6:g.94331517A>G	UniProt
Adamts20	P59511	p.Val925Ile	rs238259595	missense variant	-	NC_000081.6:g.94331464C>T	UniProt
Adamts20	P59511	p.Asp982Glu	rs33901953	missense variant	-	NC_000081.6:g.94330619G>C	UniProt
Adamts20	P59511	p.Ser1000Ile	rs235508777	missense variant	-	NC_000081.6:g.94330566C>A	UniProt
Adamts20	P59511	p.Ser1000Arg	rs263815693	missense variant	-	NC_000081.6:g.94330567T>G	UniProt
Adamts20	P59511	p.Met1051Val	rs218190254	missense variant	-	NC_000081.6:g.94330014T>C	UniProt
Adamts20	P59511	p.Ala1074Thr	rs33885830	missense variant	-	NC_000081.6:g.94329945C>T	UniProt
Adamts20	P59511	p.Asp1124Gly	rs250287344	missense variant	-	NC_000081.6:g.94327845T>C	UniProt
Adamts20	P59511	p.Leu1127Phe	rs33901942	missense variant	-	NC_000081.6:g.94327835C>A	UniProt
Adamts20	P59511	p.Ala1128Val	rs224886024	missense variant	-	NC_000081.6:g.94327833G>A	UniProt
Adamts20	P59511	p.Val1182Met	rs33901933	missense variant	-	NC_000081.6:g.94326404C>T	UniProt
Adamts20	P59511	p.Ser1186Leu	rs33901932	missense variant	-	NC_000081.6:g.94326391G>A	UniProt
Adamts20	P59511	p.Asp1211Tyr	rs33901931	missense variant	-	NC_000081.6:g.94326317C>A	UniProt
Adamts20	P59511	p.Arg1227His	rs33901929	missense variant	-	NC_000081.6:g.94326166C>T	UniProt
Adamts20	P59511	p.Gln1252Arg	rs236880462	missense variant	-	NC_000081.6:g.94326091T>C	UniProt
Adamts20	P59511	p.Leu1262Ser	rs107696218	missense variant	-	NC_000081.6:g.94326061A>G	UniProt
Adamts20	P59511	p.Ala1266Thr	rs262366701	missense variant	-	NC_000081.6:g.94326050C>T	UniProt
Adamts20	P59511	p.Val1276Ile	rs224175246	missense variant	-	NC_000081.6:g.94326020C>T	UniProt
Adamts20	P59511	p.Asn1280His	rs33901925	missense variant	-	NC_000081.6:g.94326008T>G	UniProt
Adamts20	P59511	p.Ala1295Val	rs33901924	missense variant	-	NC_000081.6:g.94325962G>A	UniProt
Adamts20	P59511	p.Arg1300Lys	rs218818126	missense variant	-	NC_000081.6:g.94325947C>T	UniProt
Adamts20	P59511	p.Gly1318Ser	rs238249390	missense variant	-	NC_000081.6:g.94324803C>T	UniProt
Adamts20	P59511	p.Arg1333Gln	rs263678232	missense variant	-	NC_000081.6:g.94324757C>T	UniProt
Adamts20	P59511	p.His1357Gln	rs1132910652	missense variant	-	NC_000081.6:g.94324684G>T	UniProt
Adamts20	P59511	p.Lys1450Ile	rs32108005	missense variant	-	NC_000081.6:g.94291622T>A	UniProt
Adamts20	P59511	p.Arg1522His	rs32104087	missense variant	-	NC_000081.6:g.94286356C>T	UniProt
Adamts20	P59511	p.Arg1527Met	rs32104086	missense variant	-	NC_000081.6:g.94286341C>A	UniProt
Adamts20	P59511	p.Val1559Ile	rs221413860	missense variant	-	NC_000081.6:g.94285745C>T	UniProt
Adamts20	P59511	p.Lys1577Thr	rs221938306	missense variant	-	NC_000081.6:g.94285690T>G	UniProt
Adamts20	P59511	p.Ile1613Thr	rs246502621	missense variant	-	NC_000081.6:g.94283973A>G	UniProt
Adamts20	P59511	p.Val1627Ala	rs229165727	missense variant	-	NC_000081.6:g.94283931A>G	UniProt
Adamts20	P59511	p.Ala1640Val	rs263963128	missense variant	-	NC_000081.6:g.94283892G>A	UniProt
Adamts20	P59511	p.Val1720Ile	rs243673021	missense variant	-	NC_000081.6:g.94282701C>T	UniProt
Adamts20	P59511	p.Ala1793Ser	rs252619247	missense variant	-	NC_000081.6:g.94281943C>A	UniProt
Adamts20	P59511	p.Leu1815Phe	rs585185625	missense variant	-	NC_000081.6:g.94280078G>A	UniProt
Adamts20	P59511	p.Ser1902Pro	rs32107256	missense variant	-	NC_000081.6:g.94270317A>G	UniProt
Asxl1	P59598	p.Asp226Asn	rs245381789	missense variant	-	NC_000068.7:g.153393459G>A	UniProt
Asxl1	P59598	p.Lys381Gln	rs221569447	missense variant	-	NC_000068.7:g.153397431A>C	UniProt
Asxl1	P59598	p.Thr461Pro	rs219633519	missense variant	-	NC_000068.7:g.153397671A>C	UniProt
Asxl1	P59598	p.Asp492Asn	rs28267861	missense variant	-	NC_000068.7:g.153397764G>A	UniProt
Asxl1	P59598	p.Ser523Pro	rs28267860	missense variant	-	NC_000068.7:g.153397857T>C	UniProt
Asxl1	P59598	p.Ser531Pro	rs33147334	missense variant	-	NC_000068.7:g.153397881T>C	UniProt
Asxl1	P59598	p.Arg715Lys	rs28267855	missense variant	-	NC_000068.7:g.153399672G>A	UniProt
Asxl1	P59598	p.Val827Ile	rs28267854	missense variant	-	NC_000068.7:g.153400007G>A	UniProt
Asxl1	P59598	p.Asp848Ala	rs28267853	missense variant	-	NC_000068.7:g.153400071A>C	UniProt
Asxl1	P59598	p.Gly855Arg	rs257109846	missense variant	-	NC_000068.7:g.153400091G>C	UniProt
Asxl1	P59598	p.Ser899Pro	rs215885701	missense variant	-	NC_000068.7:g.153400223T>C	UniProt
Asxl1	P59598	p.Asp1119His	rs28267852	missense variant	-	NC_000068.7:g.153400883G>C	UniProt
Asxl1	P59598	p.Gly1139Ala	rs254125384	missense variant	-	NC_000068.7:g.153400944G>C	UniProt
Asxl1	P59598	p.Ala1175Val	rs28267851	missense variant	-	NC_000068.7:g.153401052C>T	UniProt
Asxl1	P59598	p.Glu1187Val	rs28267850	missense variant	-	NC_000068.7:g.153401088A>T	UniProt
Asxl1	P59598	p.Thr1284Ala	rs13476848	missense variant	-	NC_000068.7:g.153401378A>G	UniProt
Asxl1	P59598	p.Asp1338Gly	rs28267849	missense variant	-	NC_000068.7:g.153401541A>G	UniProt
Asxl1	P59598	p.Lys1341Arg	rs28267848	missense variant	-	NC_000068.7:g.153401550A>G	UniProt
Asxl1	P59598	p.Ala1467Thr	rs28267845	missense variant	-	NC_000068.7:g.153401927G>A	UniProt
Cdo1	P60334	p.Ala35Thr	rs261687488	missense variant	-	NC_000084.6:g.46728040C>T	UniProt
Cdo1	P60334	p.Ser194Ala	rs264956378	missense variant	-	NC_000084.6:g.46713955A>C	UniProt
Cdc42	P60766	p.Asp11Gly	rs13460506	missense variant	-	NC_000070.6:g.137336048T>C	UniProt
Cdc42	P60766	p.Arg186His	rs13460503	missense variant	-	NC_000070.6:g.137321122C>T	UniProt
Megf8	P60882	p.Leu940Val	rs265920415	missense variant	-	NC_000073.6:g.25340300C>G	UniProt
Megf8	P60882	p.Leu1227Phe	rs239456916	missense variant	-	NC_000073.6:g.25342341C>T	UniProt
Megf8	P60882	p.His1709Tyr	rs47631937	missense variant	-	NC_000073.6:g.25349028C>T	UniProt
Megf8	P60882	p.Ala1724Ser	rs235280591	missense variant	-	NC_000073.6:g.25349073G>T	UniProt
Megf8	P60882	p.Thr2498Ala	rs238068733	missense variant	-	NC_000073.6:g.25363712A>G	UniProt
Rac1	P63001	p.Arg174Ter	rs1133243491	stop gained	-	NC_000071.6:g.143507034G>A	UniProt
Rac1	P63001	p.Leu177Phe	rs1132328896	missense variant	-	NC_000071.6:g.143507025G>A	UniProt
Mapk1	P63085	p.Lys298Glu	rs1132125589	missense variant	-	NC_000082.6:g.17035483A>G	UniProt
Mapk1	P63085	p.Lys298Glu	rs1132125589	missense variant	-	NC_000082.6:g.17035483A>G	UniProt
Mapk1	P63085	p.Lys298Glu	rs1132125589	missense variant	-	NC_000082.6:g.17035483A>G	UniProt
Sumo1	P63166	p.Ser99Leu	rs584699717	missense variant	-	NC_000067.6:g.59640210G>A	UniProt
Pitx1	P70314	p.Pro23Ser	rs579476619	missense variant	-	NC_000079.6:g.55830874G>A	UniProt
Tbx3	P70324	p.Met184Ile	rs1132730491	missense variant	-	NC_000071.6:g.119674188G>T	UniProt
Tbx3	P70324	p.Tyr185Phe	rs1135190347	missense variant	-	NC_000071.6:g.119674190A>T	UniProt
Tbx3	P70324	p.Asp189Glu	rs1132682586	missense variant	-	NC_000071.6:g.119674203C>G	UniProt
Tbx3	P70324	p.Ala192Thr	rs1135012018	missense variant	-	NC_000071.6:g.119674210G>A	UniProt
Tbx3	P70324	p.Glu326Asp	rs49412963	missense variant	-	NC_000071.6:g.119678717G>C	UniProt
Tbx3	P70324	p.Glu399Asp	rs48743523	missense variant	-	NC_000071.6:g.119680498G>T	UniProt
Tbx3	P70324	p.Gly670Ala	rs262843371	missense variant	-	NC_000071.6:g.119682875G>C	UniProt
Tbx3	P70324	p.Ala714Thr	rs33755706	missense variant	-	NC_000071.6:g.119683006G>A	UniProt
Smad1	P70340	p.Ala253Thr	rs231285846	missense variant	-	NC_000074.6:g.79353348C>T	UniProt
Smad1	P70340	p.Ser256Asn	rs235723575	missense variant	-	NC_000074.6:g.79353338C>T	UniProt
Smad1	P70340	p.Phe354Leu	rs1133169708	missense variant	-	NC_000074.6:g.79343846G>T	UniProt
Elavl1	P70372	p.Tyr95Asp	rs50300746	missense variant	-	NC_000074.6:g.4301832A>C	UniProt
Elavl1	P70372	p.Tyr95Asp	rs50300746	missense variant	-	NC_000074.6:g.4301832A>C	UniProt
Shox2	P70390	p.Glu107Asp	rs233373240	missense variant	-	NC_000069.6:g.66981236C>A	UniProt
Dlx5	P70396	p.Ala98Pro	rs257035339	missense variant	-	NC_000072.6:g.6881595C>G	UniProt
Dlx5	P70396	p.Ala98Asp	rs241043374	missense variant	-	NC_000072.6:g.6881594G>T	UniProt
Dlx5	P70396	p.Ser99Arg	rs224044499	missense variant	-	NC_000072.6:g.6881592T>G	UniProt
Ldb1	P70662	p.Leu274His	rs1133708177	missense variant	-	NC_000085.6:g.46034424A>T	UniProt
Ldb1	P70662	p.Gln276Arg	rs1132530541	missense variant	-	NC_000085.6:g.46034418T>C	UniProt
Ldb1	P70662	p.Gln276Ter	rs1132646018	stop gained	-	NC_000085.6:g.46034419G>A	UniProt
Ldb1	P70662	p.Trp278Arg	rs1133793164	missense variant	-	NC_000085.6:g.46034413A>T	UniProt
Ldb1	P70662	p.Gly371Cys	rs215367180	missense variant	-	NC_000085.6:g.46033236C>A	UniProt
Ldb1	P70662	p.Leu274His	rs1133708177	missense variant	-	NC_000085.6:g.46034424A>T	UniProt
Ldb1	P70662	p.Gln276Ter	rs1132646018	stop gained	-	NC_000085.6:g.46034419G>A	UniProt
Ldb1	P70662	p.Gln276Arg	rs1132530541	missense variant	-	NC_000085.6:g.46034418T>C	UniProt
Ldb1	P70662	p.Trp278Arg	rs1133793164	missense variant	-	NC_000085.6:g.46034413A>T	UniProt
Ldb1	P70662	p.Gly371Cys	rs215367180	missense variant	-	NC_000085.6:g.46033236C>A	UniProt
Casp3	P70677	p.Gln84Glu	rs16788201	missense variant	-	NC_000074.6:g.46634269C>G	UniProt
Casp3	P70677	p.Asp101Ala	rs16788202	missense variant	-	NC_000074.6:g.46634321A>C	UniProt
Casp3	P70677	p.Gln84Glu	rs16788201	missense variant	-	NC_000074.6:g.46634269C>G	UniProt
Casp3	P70677	p.Asp101Ala	rs16788202	missense variant	-	NC_000074.6:g.46634321A>C	UniProt
Wnt10a	P70701	p.Leu327Met	rs232053716	missense variant	-	NC_000067.6:g.74803345C>A	UniProt
Kcnj13	P86046	p.Gly215Asp	rs51029721	missense variant	-	NC_000067.6:g.87386855C>T	UniProt
Nrp1	P97333	p.Ser283Pro	rs13474420	missense variant	-	NC_000074.6:g.128434241T>C	UniProt
Nrp1	P97333	p.Thr341Ile	rs32166907	missense variant	-	NC_000074.6:g.128457897C>T	UniProt
Nrp1	P97333	p.Pro477Leu	rs212448468	missense variant	-	NC_000074.6:g.128468494C>T	UniProt
Nrp1	P97333	p.Thr481Ile	rs232880389	missense variant	-	NC_000074.6:g.128468506C>T	UniProt
Nrp1	P97333	p.Ile529Val	rs234203076	missense variant	-	NC_000074.6:g.128468649A>G	UniProt
Nxn	P97346	p.Ala72Pro	rs258950183	missense variant	-	NC_000077.6:g.76398847C>G	UniProt
Nxn	P97346	p.Ser190Asn	rs1134886163	missense variant	-	NC_000077.6:g.76274558C>T	UniProt
Nxn	P97346	p.Gly339Val	rs1133188760	missense variant	-	NC_000077.6:g.76261651C>A	UniProt
Taf1b	P97358	p.Asp2Asn	rs49293875	missense variant	-	NC_000078.6:g.24498635G>A	UniProt
Taf1b	P97358	p.Arg126His	rs48896353	missense variant	-	NC_000078.6:g.24509527G>A	UniProt
Taf1b	P97358	p.Lys178Thr	rs29126550	missense variant	-	NC_000078.6:g.24514918A>C	UniProt
Taf1b	P97358	p.Arg199Gln	rs256406507	missense variant	-	NC_000078.6:g.24516904G>A	UniProt
Taf1b	P97358	p.Arg390Lys	rs219940828	missense variant	-	NC_000078.6:g.24547611G>A	UniProt
Irf6	P97431	p.Thr119Pro	rs32499299	missense variant	-	NC_000067.6:g.193161793A>C	UniProt
Irf6	P97431	p.Glu143Asp	rs249203094	missense variant	-	NC_000067.6:g.193162651A>C	UniProt
Irf6	P97431	p.Gln247Arg	rs1132277242	missense variant	-	NC_000067.6:g.193167511A>G	UniProt
Irf6	P97431	p.Asn335Asp	rs1132838205	missense variant	-	NC_000067.6:g.193167774A>G	UniProt
Irf6	P97431	p.Glu338Gly	rs1135258832	missense variant	-	NC_000067.6:g.193167784A>G	UniProt
Irf6	P97431	p.Arg339Trp	rs1132120369	missense variant	-	NC_000067.6:g.193167786A>T	UniProt
Irf6	P97431	p.Gln340Glu	rs1134082337	missense variant	-	NC_000067.6:g.193167789C>G	UniProt
Ext1	P97464	p.Phe66Val	rs260190090	missense variant	-	NC_000081.6:g.53345168A>C	UniProt
Ext1	P97464	p.Ala151Thr	rs864300415	missense variant	-	NC_000081.6:g.53344913C>T	UniProt
Ext1	P97464	p.Arg314Thr	rs864276496	missense variant	-	NC_000081.6:g.53344423C>G	UniProt
Snai2	P97469	p.Ile39Met	rs241956389	missense variant	-	NC_000082.6:g.14706748A>G	UniProt
Smad4	P97471	p.Ser154Asn	rs583560846	missense variant	-	NC_000084.6:g.73662861C>T	UniProt
Smad4	P97471	p.Ser154Asn	rs583560846	missense variant	-	NC_000084.6:g.73662861C>T	UniProt
Pitx2	P97474	p.Glu23Asp	rs38432017	missense variant	-	NC_000069.6:g.129204462A>C	UniProt
Pitx2	P97474	p.Lys42Glu	rs221741451	missense variant	-	NC_000069.6:g.129204517A>G	UniProt
Eya1	P97767	p.Gly219Ser	rs230534780	missense variant	-	NC_000067.6:g.14252596C>T	UniProt
Eya1	P97767	p.Thr289Ser	rs227534449	missense variant	-	NC_000067.6:g.14231511T>A	UniProt
Eya1	P97767	p.Gly219Ser	rs230534780	missense variant	-	NC_000067.6:g.14252596C>T	UniProt
Eya1	P97767	p.Thr289Ser	rs227534449	missense variant	-	NC_000067.6:g.14231511T>A	UniProt
Ihh	P97812	p.Leu10Arg	rs1134361369	missense variant	-	NC_000067.6:g.74951186A>C	UniProt
Ihh	P97812	p.Phe15Leu	rs258600250	missense variant	-	NC_000067.6:g.74951172A>G	UniProt
Ihh	P97812	p.Val22Gly	rs1131802387	missense variant	-	NC_000067.6:g.74951150A>C	UniProt
Ihh	P97812	p.Pro23Ser	rs243850939	missense variant	-	NC_000067.6:g.74951148G>A	UniProt
Ihh	P97812	p.Val309Ile	rs224202508	missense variant	-	NC_000067.6:g.74946400C>T	UniProt
Ihh	P97812	p.Gln313Arg	rs16793345	missense variant	-	NC_000067.6:g.74946387T>C	UniProt
Ihh	P97812	p.Met387Leu	rs16785047	missense variant	-	NC_000067.6:g.74946166T>G	UniProt
Rbp4	Q00724	p.Gly16Ser	rs228242343	missense variant	-	NC_000085.6:g.38124584C>T	UniProt
Egfr	Q01279	p.Arg72Lys	rs265991943	missense variant	-	NC_000077.6:g.16859022G>A	UniProt
Egfr	Q01279	p.Glu245Asp	rs13472485	missense variant	-	NC_000077.6:g.16868214G>C	UniProt
Egfr	Q01279	p.Asp247His	rs13472486	missense variant	-	NC_000077.6:g.16868218G>C	UniProt
Egfr	Q01279	p.Val502Met	rs238953470	missense variant	-	NC_000077.6:g.16878132G>A	UniProt
Egfr	Q01279	p.Val804Ile	rs231011417	missense variant	-	NC_000077.6:g.16897014G>A	UniProt
Egfr	Q01279	p.His890Leu	rs48965927	missense variant	-	NC_000077.6:g.16905385A>T	UniProt
Egfr	Q01279	p.Ala1064Thr	rs247870816	missense variant	-	NC_000077.6:g.16910815G>A	UniProt
Egfr	Q01279	p.Ala1076Val	rs264415690	missense variant	-	NC_000077.6:g.16910852C>T	UniProt
Gas1	Q01721	p.Gly85Val	rs229886170	missense variant	-	NC_000079.6:g.60176565C>A	UniProt
Gas1	Q01721	p.Asn321Thr	rs252771045	missense variant	-	NC_000079.6:g.60175857T>G	UniProt
Ryk	Q01887	p.Arg451Lys	rs229626579	missense variant	-	NC_000075.6:g.102898544G>A	UniProt
Snai1	Q02085	p.Val86Ala	rs215126163	missense variant	-	NC_000068.7:g.167538845T>C	UniProt
Ctnnb1	Q02248	p.Val438Ala	rs13468608	missense variant	-	NC_000075.6:g.120955456T>C	UniProt
Ctnnb1	Q02248	p.Val438Ala	rs13468608	missense variant	-	NC_000075.6:g.120955456T>C	UniProt
Msx2	Q03358	p.Gly237Arg	rs8237716	missense variant	-	NC_000079.6:g.53468264C>G	UniProt
Pcsk5	Q04592	p.Gly26Ser	rs243480050	missense variant	-	NC_000085.6:g.17837077C>T	UniProt
Pcsk5	Q04592	p.Arg513Cys	rs8267576	missense variant	-	NC_000085.6:g.17594628G>A	UniProt
Pcsk5	Q04592	p.Asn704Asp	rs38330866	missense variant	-	NC_000085.6:g.17572517T>C	UniProt
Pcsk5	Q04592	p.Gln777His	rs1134645404	missense variant	-	NC_000085.6:g.17565323C>A	UniProt
Pcsk5	Q04592	p.Pro786Ser	rs237795963	missense variant	-	NC_000085.6:g.17565298G>A	UniProt
Pcsk5	Q04592	p.Ala895Asp	rs216525616	missense variant	-	NC_000085.6:g.17525263G>T	UniProt
Pcsk5	Q04592	p.Val910Ile	rs255100500	missense variant	-	NC_000085.6:g.17525219C>T	UniProt
Pcsk5	Q04592	p.Leu914Phe	rs253321654	missense variant	-	NC_000085.6:g.17515266C>G	UniProt
Pcsk5	Q04592	p.Met921Ile	rs238802707	missense variant	-	NC_000085.6:g.17515245C>A	UniProt
Pcsk5	Q04592	p.Ala986Thr	rs37956130	missense variant	-	NC_000085.6:g.17511499C>T	UniProt
Pcsk5	Q04592	p.Val1002Ile	rs38650192	missense variant	-	NC_000085.6:g.17511451C>T	UniProt
Pcsk5	Q04592	p.Asn1139Thr	rs47802541	missense variant	-	NC_000085.6:g.17473067T>G	UniProt
Pcsk5	Q04592	p.Thr1161Met	rs37083123	missense variant	-	NC_000085.6:g.17473001G>A	UniProt
Pcsk5	Q04592	p.Ala1225Thr	rs38466626	missense variant	-	NC_000085.6:g.17466121C>T	UniProt
Pcsk5	Q04592	p.Gly1326Ala	rs222267063	missense variant	-	NC_000085.6:g.17461776C>G	UniProt
Pcsk5	Q04592	p.His1399Pro	rs51047282	missense variant	-	NC_000085.6:g.17456807T>G	UniProt
Pcsk5	Q04592	p.Asn1442Ser	rs247115135	missense variant	-	NC_000085.6:g.17456678T>C	UniProt
Pcsk5	Q04592	p.Thr1476Met	rs252722449	missense variant	-	NC_000085.6:g.17454823G>A	UniProt
Pcsk5	Q04592	p.Asp1488Asn	rs233402310	missense variant	-	NC_000085.6:g.17454788C>T	UniProt
Pcsk5	Q04592	p.Gln1495Leu	rs246555022	missense variant	-	NC_000085.6:g.17454766T>A	UniProt
Pcsk5	Q04592	p.Ser1540Arg	rs226411300	missense variant	-	NC_000085.6:g.17451993G>T	UniProt
Pcsk5	Q04592	p.Arg1591Lys	rs237635995	missense variant	-	NC_000085.6:g.17447666C>T	UniProt
Pcsk5	Q04592	p.Arg1606Gln	rs260472048	missense variant	-	NC_000085.6:g.17447621C>T	UniProt
Pcsk5	Q04592	p.His1639Gln	rs251775302	missense variant	-	NC_000085.6:g.17447521G>T	UniProt
Pcsk5	Q04592	p.Ser1709Gly	rs37974013	missense variant	-	NC_000085.6:g.17436579T>C	UniProt
Pcsk5	Q04592	p.His1736Tyr	rs236249073	missense variant	-	NC_000085.6:g.17436498G>A	UniProt
Pcsk5	Q04592	p.Arg1738His	rs242666289	missense variant	-	NC_000085.6:g.17436491C>T	UniProt
Pcsk5	Q04592	p.Arg1739Lys	rs224851869	missense variant	-	NC_000085.6:g.17436488C>T	UniProt
Pcsk5	Q04592	p.Ala1786Val	rs36626225	missense variant	-	NC_000085.6:g.17433670G>A	UniProt
Sox9	Q04887	p.Val250Ile	rs217705772	missense variant	-	NC_000077.6:g.112784734G>A	UniProt
Sox9	Q04887	p.Pro346Gln	rs222636079	missense variant	-	NC_000077.6:g.112785023C>A	UniProt
Inhbb	Q04999	p.Gly117Cys	rs224915714	missense variant	-	NC_000067.6:g.119420738C>A	UniProt
Inhbb	Q04999	p.Arg120His	rs236997786	missense variant	-	NC_000067.6:g.119420728C>T	UniProt
Cyp2e1	Q05421	p.Ile45Val	rs249265859	missense variant	-	NC_000073.6:g.140763983A>G	UniProt
Cyp2e1	Q05421	p.Leu57Phe	rs8268048	missense variant	-	NC_000073.6:g.140764021A>C	UniProt
Cyp2e1	Q05421	p.Glu88Gly	rs13463375	missense variant	-	NC_000073.6:g.140764885A>G	UniProt
Cyp2e1	Q05421	p.Lys94Arg	rs13463373	missense variant	-	NC_000073.6:g.140764903A>G	UniProt
Cyp2e1	Q05421	p.Asp192Asn	rs236611857	missense variant	-	NC_000073.6:g.140769650G>A	UniProt
Cyp2e1	Q05421	p.Met236Leu	rs13463376	missense variant	-	NC_000073.6:g.140770109A>C	UniProt
Cyp2e1	Q05421	p.Arg379Gln	rs230593376	missense variant	-	NC_000073.6:g.140773187G>A	UniProt
Cyp2e1	Q05421	p.Phe398Leu	rs1134139797	missense variant	-	NC_000073.6:g.140773668T>A	UniProt
Cyp2e1	Q05421	p.Asp399Glu	rs1135167122	missense variant	-	NC_000073.6:g.140773671C>A	UniProt
Cyp2e1	Q05421	p.Tyr401His	rs1131786300	missense variant	-	NC_000073.6:g.140773675T>C	UniProt
Cyp2e1	Q05421	p.Ile469Met	rs8268022	missense variant	-	NC_000073.6:g.140774667C>G	UniProt
Serpina6	Q06770	p.Glu84Gln	rs258530128	missense variant	-	NC_000078.6:g.103654239C>G	UniProt
Serpina6	Q06770	p.Glu84Val	rs239138194	missense variant	-	NC_000078.6:g.103654238T>A	UniProt
Serpina6	Q06770	p.Tyr143Phe	rs33048474	missense variant	-	NC_000078.6:g.103654061T>A	UniProt
Serpina6	Q06770	p.Gly160Ser	rs8273541	missense variant	-	NC_000078.6:g.103654011C>T	UniProt
Serpina6	Q06770	p.Ile191Val	rs8273542	missense variant	-	NC_000078.6:g.103653918T>C	UniProt
Serpina6	Q06770	p.Lys223Glu	rs250324376	missense variant	-	NC_000078.6:g.103651886T>C	UniProt
Serpina6	Q06770	p.Gln263His	rs33045133	missense variant	-	NC_000078.6:g.103651764C>A	UniProt
Serpina6	Q06770	p.Val270Ile	rs8273529	missense variant	-	NC_000078.6:g.103651745C>T	UniProt
Serpina6	Q06770	p.Thr334Ala	rs8273521	missense variant	-	NC_000078.6:g.103648586T>C	UniProt
Serpina6	Q06770	p.Ala379Thr	rs244595335	missense variant	-	NC_000078.6:g.103646905C>T	UniProt
Serpina6	Q06770	p.Tyr383Phe	rs8273577	missense variant	-	NC_000078.6:g.103646892T>A	UniProt
Igf2r	Q07113	p.Leu6Pro	rs240281001	missense variant	-	NC_000083.6:g.12769517A>G	UniProt
Igf2r	Q07113	p.Asn474Asp	rs108744529	missense variant	-	NC_000083.6:g.12722173T>C	UniProt
Igf2r	Q07113	p.Gln492Glu	rs258006004	missense variant	-	NC_000083.6:g.12719942G>C	UniProt
Igf2r	Q07113	p.Tyr507Ser	rs227113420	missense variant	-	NC_000083.6:g.12719896T>G	UniProt
Igf2r	Q07113	p.Pro757Leu	rs864275034	missense variant	-	NC_000083.6:g.12715432G>A	UniProt
Igf2r	Q07113	p.Glu912Asp	rs49880468	missense variant	-	NC_000083.6:g.12712058C>A	UniProt
Igf2r	Q07113	p.Lys976Asn	rs214748052	missense variant	-	NC_000083.6:g.12709527C>G	UniProt
Igf2r	Q07113	p.Ala1367Gly	rs221423319	missense variant	-	NC_000083.6:g.12701351G>C	UniProt
Igf2r	Q07113	p.Val1419Ile	rs228110931	missense variant	-	NC_000083.6:g.12700509C>T	UniProt
Igf2r	Q07113	p.Ser1589Thr	rs864299560	missense variant	-	NC_000083.6:g.12698247A>T	UniProt
Igf2r	Q07113	p.Val1779Leu	rs33606153	missense variant	-	NC_000083.6:g.12694125C>A	UniProt
Igf2r	Q07113	p.Gly1839Asp	rs49586086	missense variant	-	NC_000083.6:g.12693223C>T	UniProt
Igf2r	Q07113	p.Ser2232Phe	rs13475273	missense variant	-	NC_000083.6:g.12686748G>A	UniProt
Igf2r	Q07113	p.Val2366Gly	rs224549791	missense variant	-	NC_000083.6:g.12684065A>C	UniProt
Igf2r	Q07113	p.Val2434Phe	rs223434790	missense variant	-	NC_000083.6:g.12683862C>A	UniProt
Igf2r	Q07113	p.Val2434Ala	rs257673939	missense variant	-	NC_000083.6:g.12683861A>G	UniProt
Itgb8	Q0VBD0	p.Leu27Phe	rs225648884	missense variant	-	NC_000078.6:g.119237720G>A	UniProt
Itgb8	Q0VBD0	p.Val125Ile	rs240214903	missense variant	-	NC_000078.6:g.119202422C>T	UniProt
Itgb8	Q0VBD0	p.Pro129Ala	rs223201135	missense variant	-	NC_000078.6:g.119202410G>C	UniProt
Itgb8	Q0VBD0	p.Arg140His	rs48942401	missense variant	-	NC_000078.6:g.119192297C>T	UniProt
Itgb8	Q0VBD0	p.Pro141His	rs256697170	missense variant	-	NC_000078.6:g.119192294G>T	UniProt
Itgb8	Q0VBD0	p.Arg497Lys	rs33694319	missense variant	-	NC_000078.6:g.119170841C>T	UniProt
Itgb8	Q0VBD0	p.Pro506Thr	rs213469529	missense variant	-	NC_000078.6:g.119170815G>T	UniProt
Itgb8	Q0VBD0	p.Gln572Glu	rs33689871	missense variant	-	NC_000078.6:g.119168195G>C	UniProt
Itgb8	Q0VBD0	p.Ala652Val	rs30770137	missense variant	-	NC_000078.6:g.119166817G>A	UniProt
Itgb8	Q0VBD0	p.Ser658Thr	rs234579503	missense variant	-	NC_000078.6:g.119166800A>T	UniProt
Fgf3	Q0VG15	p.Arg200Gly	rs264887410	missense variant	-	NC_000073.6:g.144842848C>G	UniProt
Fgf3	Q0VG15	p.Ser219Gly	rs227671122	missense variant	-	NC_000073.6:g.144842905A>G	UniProt
Fgf3	Q0VG15	p.Met224Ile	rs219466677	missense variant	-	NC_000073.6:g.144842922G>A	UniProt
Gli2	Q0VGT2	p.His44Gln	rs30698944	missense variant	-	NC_000067.6:g.119002044G>T	UniProt
Gli2	Q0VGT2	p.Ala113Thr	rs30812533	missense variant	-	NC_000067.6:g.118868087C>T	UniProt
Gli2	Q0VGT2	p.His308Asn	rs224809238	missense variant	-	NC_000067.6:g.118854569G>T	UniProt
Gli2	Q0VGT2	p.Ser610Thr	rs245497331	missense variant	-	NC_000067.6:g.118841992C>G	UniProt
Gli2	Q0VGT2	p.Ala681Asp	rs30729325	missense variant	-	NC_000067.6:g.118840454G>T	UniProt
Gli2	Q0VGT2	p.Ser707Thr	rs227651587	missense variant	-	NC_000067.6:g.118840376C>G	UniProt
Gli2	Q0VGT2	p.Val709Met	rs30729326	missense variant	-	NC_000067.6:g.118840371C>T	UniProt
Gli2	Q0VGT2	p.Ser726Pro	rs30729327	missense variant	-	NC_000067.6:g.118840320A>G	UniProt
Gli2	Q0VGT2	p.Asn753Ser	rs249160291	missense variant	-	NC_000067.6:g.118838162T>C	UniProt
Gli2	Q0VGT2	p.Glu776Gln	rs241557064	missense variant	-	NC_000067.6:g.118838094C>G	UniProt
Gli2	Q0VGT2	p.Ala912Thr	rs252449840	missense variant	-	NC_000067.6:g.118837686C>T	UniProt
Gli2	Q0VGT2	p.Ala937Val	rs215991378	missense variant	-	NC_000067.6:g.118837610G>A	UniProt
Gli2	Q0VGT2	p.Ser997Asn	rs229290480	missense variant	-	NC_000067.6:g.118837430C>T	UniProt
Gli2	Q0VGT2	p.Cys1037Tyr	rs254231015	missense variant	-	NC_000067.6:g.118837310C>T	UniProt
Gli2	Q0VGT2	p.Thr1063Ala	rs247391032	missense variant	-	NC_000067.6:g.118837233T>C	UniProt
Gli2	Q0VGT2	p.Arg1402Gln	rs239819333	missense variant	-	NC_000067.6:g.118836215C>T	UniProt
Tex11	Q14AT2	p.Ile112Met	rs224774281	missense variant	-	NC_000086.7:g.101032773T>C	UniProt
Tex11	Q14AT2	p.Val178Phe	rs257631182	missense variant	-	NC_000086.7:g.101015621C>A	UniProt
Tex11	Q14AT2	p.Met188Leu	rs29081540	missense variant	-	NC_000086.7:g.101015591T>G	UniProt
Tex11	Q14AT2	p.Arg243Cys	rs29080718	missense variant	-	NC_000086.7:g.100985716G>A	UniProt
Tex11	Q14AT2	p.Ile277Val	rs259952749	missense variant	-	NC_000086.7:g.100977641T>C	UniProt
Tex11	Q14AT2	p.Tyr324Cys	rs31832938	missense variant	-	NC_000086.7:g.100972130T>C	UniProt
Tex11	Q14AT2	p.Leu361Met	rs243102200	missense variant	-	NC_000086.7:g.100954778G>T	UniProt
Tex11	Q14AT2	p.Ser395Thr	rs31833658	missense variant	-	NC_000086.7:g.100951627A>T	UniProt
Tex11	Q14AT2	p.Met489Leu	rs258921960	missense variant	-	NC_000086.7:g.100933409T>A	UniProt
Tex11	Q14AT2	p.Ile687Thr	rs260864753	missense variant	-	NC_000086.7:g.100879987A>G	UniProt
Tex11	Q14AT2	p.Asp754Asn	rs252049545	missense variant	-	NC_000086.7:g.100851859C>T	UniProt
Tex11	Q14AT2	p.Leu765Ser	rs51088626	missense variant	-	NC_000086.7:g.100850377A>G	UniProt
Tex11	Q14AT2	p.Ile808Thr	rs231535356	missense variant	-	NC_000086.7:g.100849149A>G	UniProt
Tex11	Q14AT2	p.Gln828Arg	rs214491624	missense variant	-	NC_000086.7:g.100849089T>C	UniProt
Tex11	Q14AT2	p.Ser836Asn	rs236227605	missense variant	-	NC_000086.7:g.100849065C>T	UniProt
Tex11	Q14AT2	p.Gly884Ser	rs1133146482	missense variant	-	NC_000086.7:g.100839739C>T	UniProt
Tex11	Q14AT2	p.Pro930Leu	rs222008808	missense variant	-	NC_000086.7:g.100838960G>A	UniProt
Tex11	Q14AT2	p.Ile112Met	rs224774281	missense variant	-	NC_000086.7:g.101032773T>C	UniProt
Tex11	Q14AT2	p.Val178Phe	rs257631182	missense variant	-	NC_000086.7:g.101015621C>A	UniProt
Tex11	Q14AT2	p.Met188Leu	rs29081540	missense variant	-	NC_000086.7:g.101015591T>G	UniProt
Tex11	Q14AT2	p.Arg243Cys	rs29080718	missense variant	-	NC_000086.7:g.100985716G>A	UniProt
Tex11	Q14AT2	p.Ile277Val	rs259952749	missense variant	-	NC_000086.7:g.100977641T>C	UniProt
Tex11	Q14AT2	p.Tyr324Cys	rs31832938	missense variant	-	NC_000086.7:g.100972130T>C	UniProt
Tex11	Q14AT2	p.Leu361Met	rs243102200	missense variant	-	NC_000086.7:g.100954778G>T	UniProt
Tex11	Q14AT2	p.Ser395Thr	rs31833658	missense variant	-	NC_000086.7:g.100951627A>T	UniProt
Tex11	Q14AT2	p.Met489Leu	rs258921960	missense variant	-	NC_000086.7:g.100933409T>A	UniProt
Tex11	Q14AT2	p.Ile687Thr	rs260864753	missense variant	-	NC_000086.7:g.100879987A>G	UniProt
Tex11	Q14AT2	p.Asp754Asn	rs252049545	missense variant	-	NC_000086.7:g.100851859C>T	UniProt
Tex11	Q14AT2	p.Leu765Ser	rs51088626	missense variant	-	NC_000086.7:g.100850377A>G	UniProt
Tex11	Q14AT2	p.Ile808Thr	rs231535356	missense variant	-	NC_000086.7:g.100849149A>G	UniProt
Tex11	Q14AT2	p.Gln828Arg	rs214491624	missense variant	-	NC_000086.7:g.100849089T>C	UniProt
Tex11	Q14AT2	p.Ser836Asn	rs236227605	missense variant	-	NC_000086.7:g.100849065C>T	UniProt
Tex11	Q14AT2	p.Gly884Ser	rs1133146482	missense variant	-	NC_000086.7:g.100839739C>T	UniProt
Tex11	Q14AT2	p.Pro930Leu	rs222008808	missense variant	-	NC_000086.7:g.100838960G>A	UniProt
Vax1	Q2NKI2	p.Ala312Thr	rs583542050	missense variant	-	NC_000085.6:g.59166270C>T	UniProt
Cdon	Q32MD9	p.Ser23Asn	rs211952555	missense variant	-	NC_000075.6:g.35452172G>A	UniProt
Cdon	Q32MD9	p.Ile168Val	rs216928057	missense variant	-	NC_000075.6:g.35455331A>G	UniProt
Cdon	Q32MD9	p.Val177Ile	rs224671800	missense variant	-	NC_000075.6:g.35455358G>A	UniProt
Cdon	Q32MD9	p.Lys183Gln	rs242119751	missense variant	-	NC_000075.6:g.35455376A>C	UniProt
Cdon	Q32MD9	p.Lys208Met	rs1133458829	missense variant	-	NC_000075.6:g.35455452A>T	UniProt
Cdon	Q32MD9	p.Val363Met	rs262681786	missense variant	-	NC_000075.6:g.35457558G>A	UniProt
Cdon	Q32MD9	p.Arg368Gly	rs47170439	missense variant	-	NC_000075.6:g.35457573C>G	UniProt
Cdon	Q32MD9	p.Ala411Thr	rs222561347	missense variant	-	NC_000075.6:g.35463910G>A	UniProt
Cdon	Q32MD9	p.Pro456Ser	rs51314853	missense variant	-	NC_000075.6:g.35464045C>T	UniProt
Cdon	Q32MD9	p.Pro530Ser	rs51945422	missense variant	-	NC_000075.6:g.35469903C>T	UniProt
Cdon	Q32MD9	p.Gln542Arg	rs48607806	missense variant	-	NC_000075.6:g.35469940A>G	UniProt
Cdon	Q32MD9	p.Val555Met	rs48389501	missense variant	-	NC_000075.6:g.35469978G>A	UniProt
Cdon	Q32MD9	p.Arg568Lys	rs50526513	missense variant	-	NC_000075.6:g.35470018G>A	UniProt
Cdon	Q32MD9	p.Ala675Val	rs236586251	missense variant	-	NC_000075.6:g.35473443C>T	UniProt
Cdon	Q32MD9	p.Val689Ile	rs263551189	missense variant	-	NC_000075.6:g.35473484G>A	UniProt
Cdon	Q32MD9	p.Val846Ile	rs216830232	missense variant	-	NC_000075.6:g.35478587G>A	UniProt
Cdon	Q32MD9	p.Thr992Ala	rs226101871	missense variant	-	NC_000075.6:g.35486962A>G	UniProt
Cdon	Q32MD9	p.Pro1096Ser	rs36838362	missense variant	-	NC_000075.6:g.35491881C>T	UniProt
Cdon	Q32MD9	p.Asn1116Ser	rs1132843324	missense variant	-	NC_000075.6:g.35503177A>G	UniProt
Cdon	Q32MD9	p.Asp1159Glu	rs240596146	missense variant	-	NC_000075.6:g.35503307C>G	UniProt
Cdon	Q32MD9	p.Ile1169Leu	rs254368955	missense variant	-	NC_000075.6:g.35503335A>T	UniProt
Cdon	Q32MD9	p.Thr1191Ile	rs243687281	missense variant	-	NC_000075.6:g.35503402C>T	UniProt
Cdon	Q32MD9	p.Ser1203Ala	rs228473968	missense variant	-	NC_000075.6:g.35504074T>G	UniProt
Cdon	Q32MD9	p.Ser23Asn	rs211952555	missense variant	-	NC_000075.6:g.35452172G>A	UniProt
Cdon	Q32MD9	p.Ile168Val	rs216928057	missense variant	-	NC_000075.6:g.35455331A>G	UniProt
Cdon	Q32MD9	p.Val177Ile	rs224671800	missense variant	-	NC_000075.6:g.35455358G>A	UniProt
Cdon	Q32MD9	p.Lys183Gln	rs242119751	missense variant	-	NC_000075.6:g.35455376A>C	UniProt
Cdon	Q32MD9	p.Lys208Met	rs1133458829	missense variant	-	NC_000075.6:g.35455452A>T	UniProt
Cdon	Q32MD9	p.Val363Met	rs262681786	missense variant	-	NC_000075.6:g.35457558G>A	UniProt
Cdon	Q32MD9	p.Arg368Gly	rs47170439	missense variant	-	NC_000075.6:g.35457573C>G	UniProt
Cdon	Q32MD9	p.Ala411Thr	rs222561347	missense variant	-	NC_000075.6:g.35463910G>A	UniProt
Cdon	Q32MD9	p.Pro456Ser	rs51314853	missense variant	-	NC_000075.6:g.35464045C>T	UniProt
Cdon	Q32MD9	p.Pro530Ser	rs51945422	missense variant	-	NC_000075.6:g.35469903C>T	UniProt
Cdon	Q32MD9	p.Gln542Arg	rs48607806	missense variant	-	NC_000075.6:g.35469940A>G	UniProt
Cdon	Q32MD9	p.Val555Met	rs48389501	missense variant	-	NC_000075.6:g.35469978G>A	UniProt
Cdon	Q32MD9	p.Arg568Lys	rs50526513	missense variant	-	NC_000075.6:g.35470018G>A	UniProt
Cdon	Q32MD9	p.Ala675Val	rs236586251	missense variant	-	NC_000075.6:g.35473443C>T	UniProt
Cdon	Q32MD9	p.Val689Ile	rs263551189	missense variant	-	NC_000075.6:g.35473484G>A	UniProt
Cdon	Q32MD9	p.Val846Ile	rs216830232	missense variant	-	NC_000075.6:g.35478587G>A	UniProt
Cdon	Q32MD9	p.Thr992Ala	rs226101871	missense variant	-	NC_000075.6:g.35486962A>G	UniProt
Cdon	Q32MD9	p.Pro1096Ser	rs36838362	missense variant	-	NC_000075.6:g.35491881C>T	UniProt
Cdon	Q32MD9	p.Asn1116Ser	rs1132843324	missense variant	-	NC_000075.6:g.35503177A>G	UniProt
Cdon	Q32MD9	p.Asp1159Glu	rs240596146	missense variant	-	NC_000075.6:g.35503307C>G	UniProt
Cdon	Q32MD9	p.Ile1169Leu	rs254368955	missense variant	-	NC_000075.6:g.35503335A>T	UniProt
Cdon	Q32MD9	p.Thr1191Ile	rs243687281	missense variant	-	NC_000075.6:g.35503402C>T	UniProt
Cdon	Q32MD9	p.Ser1203Ala	rs228473968	missense variant	-	NC_000075.6:g.35504074T>G	UniProt
Pdss2	Q33DR3	p.Ser21Asn	rs241685174	missense variant	-	NC_000076.6:g.43221823G>A	UniProt
Pdss2	Q33DR3	p.Ala132Ser	rs222909062	missense variant	-	NC_000076.6:g.43298893G>T	UniProt
Pdss2	Q33DR3	p.Ile246Met	rs222218433	missense variant	-	NC_000076.6:g.43393900C>G	UniProt
Pdss2	Q33DR3	p.Lys273Glu	rs257139884	missense variant	-	NC_000076.6:g.43393979A>G	UniProt
Pdss2	Q33DR3	p.Ala277Val	rs29602339	missense variant	-	NC_000076.6:g.43393992C>T	UniProt
Disp1	Q3TDN0	p.His38Gln	rs584396319	missense variant	-	NC_000067.6:g.183135747G>C	UniProt
Disp1	Q3TDN0	p.Thr76Met	rs864281236	missense variant	-	NC_000067.6:g.183135634G>A	UniProt
Disp1	Q3TDN0	p.Asn95Ser	rs47086438	missense variant	-	NC_000067.6:g.183135577T>C	UniProt
Disp1	Q3TDN0	p.Val1012Ile	rs578960747	missense variant	-	NC_000067.6:g.183087821C>T	UniProt
Disp1	Q3TDN0	p.Arg1163Lys	rs32256767	missense variant	-	NC_000067.6:g.183087367C>T	UniProt
Disp1	Q3TDN0	p.Ala1171Ser	rs580699710	missense variant	-	NC_000067.6:g.183087344C>A	UniProt
Disp1	Q3TDN0	p.Gly1220Arg	rs50580670	missense variant	-	NC_000067.6:g.183087197C>G	UniProt
Disp1	Q3TDN0	p.Gly1302Asp	rs46918359	missense variant	-	NC_000067.6:g.183086950C>T	UniProt
Disp1	Q3TDN0	p.Ser1309Asn	rs49930572	missense variant	-	NC_000067.6:g.183086929C>T	UniProt
Disp1	Q3TDN0	p.Ser1310Ala	rs583620330	missense variant	-	NC_000067.6:g.183086927A>C	UniProt
Disp1	Q3TDN0	p.Ala1321Thr	rs587144847	missense variant	-	NC_000067.6:g.183086894C>T	UniProt
Disp1	Q3TDN0	p.His1326Gln	rs582981575	missense variant	-	NC_000067.6:g.183086877G>C	UniProt
Disp1	Q3TDN0	p.Gln1337His	rs580013898	missense variant	-	NC_000067.6:g.183086844C>G	UniProt
Disp1	Q3TDN0	p.Ala1354Thr	rs585892949	missense variant	-	NC_000067.6:g.183086795C>T	UniProt
Disp1	Q3TDN0	p.Asn1398Lys	rs1132563585	missense variant	-	NC_000067.6:g.183086661A>T	UniProt
Disp1	Q3TDN0	p.Lys1431Glu	rs30458762	missense variant	-	NC_000067.6:g.183086564T>C	UniProt
Disp1	Q3TDN0	p.Val1447Ala	rs582368889	missense variant	-	NC_000067.6:g.183086515A>G	UniProt
Disp1	Q3TDN0	p.Thr1490Ala	rs584934484	missense variant	-	NC_000067.6:g.183086387T>C	UniProt
Disp1	Q3TDN0	p.Asn1501Asp	rs46928511	missense variant	-	NC_000067.6:g.183086354T>C	UniProt
Disp1	Q3TDN0	p.His38Gln	rs584396319	missense variant	-	NC_000067.6:g.183135747G>C	UniProt
Disp1	Q3TDN0	p.Thr76Met	rs864281236	missense variant	-	NC_000067.6:g.183135634G>A	UniProt
Disp1	Q3TDN0	p.Asn95Ser	rs47086438	missense variant	-	NC_000067.6:g.183135577T>C	UniProt
Disp1	Q3TDN0	p.Val1012Ile	rs578960747	missense variant	-	NC_000067.6:g.183087821C>T	UniProt
Disp1	Q3TDN0	p.Arg1163Lys	rs32256767	missense variant	-	NC_000067.6:g.183087367C>T	UniProt
Disp1	Q3TDN0	p.Ala1171Ser	rs580699710	missense variant	-	NC_000067.6:g.183087344C>A	UniProt
Disp1	Q3TDN0	p.Gly1220Arg	rs50580670	missense variant	-	NC_000067.6:g.183087197C>G	UniProt
Disp1	Q3TDN0	p.Gly1302Asp	rs46918359	missense variant	-	NC_000067.6:g.183086950C>T	UniProt
Disp1	Q3TDN0	p.Ser1309Asn	rs49930572	missense variant	-	NC_000067.6:g.183086929C>T	UniProt
Disp1	Q3TDN0	p.Ser1310Ala	rs583620330	missense variant	-	NC_000067.6:g.183086927A>C	UniProt
Disp1	Q3TDN0	p.Ala1321Thr	rs587144847	missense variant	-	NC_000067.6:g.183086894C>T	UniProt
Disp1	Q3TDN0	p.His1326Gln	rs582981575	missense variant	-	NC_000067.6:g.183086877G>C	UniProt
Disp1	Q3TDN0	p.Gln1337His	rs580013898	missense variant	-	NC_000067.6:g.183086844C>G	UniProt
Disp1	Q3TDN0	p.Ala1354Thr	rs585892949	missense variant	-	NC_000067.6:g.183086795C>T	UniProt
Disp1	Q3TDN0	p.Asn1398Lys	rs1132563585	missense variant	-	NC_000067.6:g.183086661A>T	UniProt
Disp1	Q3TDN0	p.Lys1431Glu	rs30458762	missense variant	-	NC_000067.6:g.183086564T>C	UniProt
Disp1	Q3TDN0	p.Val1447Ala	rs582368889	missense variant	-	NC_000067.6:g.183086515A>G	UniProt
Disp1	Q3TDN0	p.Thr1490Ala	rs584934484	missense variant	-	NC_000067.6:g.183086387T>C	UniProt
Disp1	Q3TDN0	p.Asn1501Asp	rs46928511	missense variant	-	NC_000067.6:g.183086354T>C	UniProt
Disp1	Q3TDN0	p.His38Gln	rs584396319	missense variant	-	NC_000067.6:g.183135747G>C	UniProt
Disp1	Q3TDN0	p.Thr76Met	rs864281236	missense variant	-	NC_000067.6:g.183135634G>A	UniProt
Disp1	Q3TDN0	p.Asn95Ser	rs47086438	missense variant	-	NC_000067.6:g.183135577T>C	UniProt
Disp1	Q3TDN0	p.Val1012Ile	rs578960747	missense variant	-	NC_000067.6:g.183087821C>T	UniProt
Disp1	Q3TDN0	p.Arg1163Lys	rs32256767	missense variant	-	NC_000067.6:g.183087367C>T	UniProt
Disp1	Q3TDN0	p.Ala1171Ser	rs580699710	missense variant	-	NC_000067.6:g.183087344C>A	UniProt
Disp1	Q3TDN0	p.Gly1220Arg	rs50580670	missense variant	-	NC_000067.6:g.183087197C>G	UniProt
Disp1	Q3TDN0	p.Gly1302Asp	rs46918359	missense variant	-	NC_000067.6:g.183086950C>T	UniProt
Disp1	Q3TDN0	p.Ser1309Asn	rs49930572	missense variant	-	NC_000067.6:g.183086929C>T	UniProt
Disp1	Q3TDN0	p.Ser1310Ala	rs583620330	missense variant	-	NC_000067.6:g.183086927A>C	UniProt
Disp1	Q3TDN0	p.Ala1321Thr	rs587144847	missense variant	-	NC_000067.6:g.183086894C>T	UniProt
Disp1	Q3TDN0	p.His1326Gln	rs582981575	missense variant	-	NC_000067.6:g.183086877G>C	UniProt
Disp1	Q3TDN0	p.Gln1337His	rs580013898	missense variant	-	NC_000067.6:g.183086844C>G	UniProt
Disp1	Q3TDN0	p.Ala1354Thr	rs585892949	missense variant	-	NC_000067.6:g.183086795C>T	UniProt
Disp1	Q3TDN0	p.Asn1398Lys	rs1132563585	missense variant	-	NC_000067.6:g.183086661A>T	UniProt
Disp1	Q3TDN0	p.Lys1431Glu	rs30458762	missense variant	-	NC_000067.6:g.183086564T>C	UniProt
Disp1	Q3TDN0	p.Val1447Ala	rs582368889	missense variant	-	NC_000067.6:g.183086515A>G	UniProt
Disp1	Q3TDN0	p.Thr1490Ala	rs584934484	missense variant	-	NC_000067.6:g.183086387T>C	UniProt
Disp1	Q3TDN0	p.Asn1501Asp	rs46928511	missense variant	-	NC_000067.6:g.183086354T>C	UniProt
Midn	Q3TPJ7	p.Asn23Ser	rs241013445	missense variant	-	NC_000076.6:g.80150145A>G	UniProt
Midn	Q3TPJ7	p.Ser357Pro	rs228798186	missense variant	-	NC_000076.6:g.80155355T>C	UniProt
Pgap2	Q3TQR0	p.Ser104Ala	rs31836594	missense variant	-	NC_000073.6:g.102236238T>G	UniProt
Pgap2	Q3TQR0	p.Gly155Ser	rs214426923	missense variant	-	NC_000073.6:g.102236492G>A	UniProt
Pgap2	Q3TQR0	p.Arg203Trp	rs31856465	missense variant	-	NC_000073.6:g.102237203C>T	UniProt
Pgap2	Q3TQR0	p.Leu244Val	rs216892093	missense variant	-	NC_000073.6:g.102237496C>G	UniProt
Prickle1	Q3U5C7	p.Cys150Ter	rs46791346	stop gained	-	NC_000081.6:g.93508691G>T	UniProt
Prickle1	Q3U5C7	p.Ser382Cys	rs253030189	missense variant	-	NC_000081.6:g.93503458T>A	UniProt
Prickle1	Q3U5C7	p.Gly462Ser	rs235335234	missense variant	-	NC_000081.6:g.93503218C>T	UniProt
Prickle1	Q3U5C7	p.Thr511Asn	rs251455591	missense variant	-	NC_000081.6:g.93503070G>T	UniProt
Prickle1	Q3U5C7	p.Ile534Val	rs229836446	missense variant	-	NC_000081.6:g.93503002T>C	UniProt
Prickle1	Q3U5C7	p.Ala593Thr	rs230852636	missense variant	-	NC_000081.6:g.93501169C>T	UniProt
Prickle1	Q3U5C7	p.Gln597Lys	rs221334598	missense variant	-	NC_000081.6:g.93501157G>T	UniProt
Prickle1	Q3U5C7	p.Gly602Glu	rs235126326	missense variant	-	NC_000081.6:g.93501141C>T	UniProt
Prickle1	Q3U5C7	p.Leu609Ile	rs226158975	missense variant	-	NC_000081.6:g.93501121G>T	UniProt
Prickle1	Q3U5C7	p.Ala661Val	rs214547944	missense variant	-	NC_000081.6:g.93500964G>A	UniProt
Prickle1	Q3U5C7	p.Cys756Tyr	rs249193668	missense variant	-	NC_000081.6:g.93500679C>T	UniProt
Prickle1	Q3U5C7	p.Ser818Phe	rs36495675	missense variant	-	NC_000081.6:g.93500493G>A	UniProt
Prickle1	Q3U5C7	p.Cys150Ter	rs46791346	stop gained	-	NC_000081.6:g.93508691G>T	UniProt
Prickle1	Q3U5C7	p.Ser382Cys	rs253030189	missense variant	-	NC_000081.6:g.93503458T>A	UniProt
Prickle1	Q3U5C7	p.Gly462Ser	rs235335234	missense variant	-	NC_000081.6:g.93503218C>T	UniProt
Prickle1	Q3U5C7	p.Thr511Asn	rs251455591	missense variant	-	NC_000081.6:g.93503070G>T	UniProt
Prickle1	Q3U5C7	p.Ile534Val	rs229836446	missense variant	-	NC_000081.6:g.93503002T>C	UniProt
Prickle1	Q3U5C7	p.Ala593Thr	rs230852636	missense variant	-	NC_000081.6:g.93501169C>T	UniProt
Prickle1	Q3U5C7	p.Gln597Lys	rs221334598	missense variant	-	NC_000081.6:g.93501157G>T	UniProt
Prickle1	Q3U5C7	p.Gly602Glu	rs235126326	missense variant	-	NC_000081.6:g.93501141C>T	UniProt
Prickle1	Q3U5C7	p.Leu609Ile	rs226158975	missense variant	-	NC_000081.6:g.93501121G>T	UniProt
Prickle1	Q3U5C7	p.Ala661Val	rs214547944	missense variant	-	NC_000081.6:g.93500964G>A	UniProt
Prickle1	Q3U5C7	p.Cys756Tyr	rs249193668	missense variant	-	NC_000081.6:g.93500679C>T	UniProt
Prickle1	Q3U5C7	p.Ser818Phe	rs36495675	missense variant	-	NC_000081.6:g.93500493G>A	UniProt
Lbr	Q3U9G9	p.Val7Ala	rs257353747	missense variant	-	NC_000067.6:g.181838523A>G	UniProt
Lbr	Q3U9G9	p.Ser52Asn	rs265125650	missense variant	-	NC_000067.6:g.181838388C>T	UniProt
Lbr	Q3U9G9	p.Gly66Ser	rs13475296	missense variant	-	NC_000067.6:g.181836258C>T	UniProt
Lbr	Q3U9G9	p.Thr174Ala	rs13475294	missense variant	-	NC_000067.6:g.181831695T>C	UniProt
Lbr	Q3U9G9	p.Ala353Val	rs263959127	missense variant	-	NC_000067.6:g.181821495G>A	UniProt
Lbr	Q3U9G9	p.Phe380Leu	rs1133393197	missense variant	-	NC_000067.6:g.181820755G>T	UniProt
Lbr	Q3U9G9	p.Gly382Val	rs1134925993	missense variant	-	NC_000067.6:g.181820750C>A	UniProt
Lbr	Q3U9G9	p.Leu389Val	rs225554668	missense variant	-	NC_000067.6:g.181820730G>C	UniProt
Lbr	Q3U9G9	p.Phe396Ile	rs253841263	missense variant	-	NC_000067.6:g.181820709A>T	UniProt
Lbr	Q3U9G9	p.Gly403Glu	rs1134125892	missense variant	-	NC_000067.6:g.181820687C>T	UniProt
Lbr	Q3U9G9	p.Ala451Thr	rs257784278	missense variant	-	NC_000067.6:g.181819005C>T	UniProt
Lbr	Q3U9G9	p.Ile585Thr	rs48602781	missense variant	-	NC_000067.6:g.181816985A>G	UniProt
Wdr19	Q3UGF1	p.Asp553His	rs237732428	missense variant	-	NC_000071.6:g.65228213G>C	UniProt
Wdr19	Q3UGF1	p.Ala585Val	rs230856282	missense variant	-	NC_000071.6:g.65228310C>T	UniProt
Wdr19	Q3UGF1	p.Ser601Gly	rs214862180	missense variant	-	NC_000071.6:g.65228479A>G	UniProt
Wdr19	Q3UGF1	p.Arg650Lys	rs31451824	missense variant	-	NC_000071.6:g.65228627G>A	UniProt
Wdr19	Q3UGF1	p.Arg754Gln	rs227879054	missense variant	-	NC_000071.6:g.65234104G>A	UniProt
Wdr19	Q3UGF1	p.Ser1118Cys	rs31450984	missense variant	-	NC_000071.6:g.65250990C>G	UniProt
Wdr19	Q3UGF1	p.Met1340Arg	rs1131921982	missense variant	-	NC_000071.6:g.65258205T>G	UniProt
Wdr19	Q3UGF1	p.Asp553His	rs237732428	missense variant	-	NC_000071.6:g.65228213G>C	UniProt
Wdr19	Q3UGF1	p.Ala585Val	rs230856282	missense variant	-	NC_000071.6:g.65228310C>T	UniProt
Wdr19	Q3UGF1	p.Ser601Gly	rs214862180	missense variant	-	NC_000071.6:g.65228479A>G	UniProt
Wdr19	Q3UGF1	p.Arg650Lys	rs31451824	missense variant	-	NC_000071.6:g.65228627G>A	UniProt
Wdr19	Q3UGF1	p.Arg754Gln	rs227879054	missense variant	-	NC_000071.6:g.65234104G>A	UniProt
Wdr19	Q3UGF1	p.Ser1118Cys	rs31450984	missense variant	-	NC_000071.6:g.65250990C>G	UniProt
Wdr19	Q3UGF1	p.Met1340Arg	rs1131921982	missense variant	-	NC_000071.6:g.65258205T>G	UniProt
Tulp4	Q3UH13	p.Tyr54Phe	rs239215737	missense variant	-	NC_000083.6:g.6201715A>T	UniProt
Tulp4	Q3UH13	p.Ile56Val	rs252296484	missense variant	-	NC_000083.6:g.6201720A>G	UniProt
Tulp4	Q3UH13	p.Asn60Ser	rs220115176	missense variant	-	NC_000083.6:g.6201733A>G	UniProt
Tulp4	Q3UH13	p.Thr61Ile	rs240292499	missense variant	-	NC_000083.6:g.6201736C>T	UniProt
Tulp4	Q3UH13	p.Arg443Trp	rs864278656	missense variant	-	NC_000083.6:g.6229370C>T	UniProt
Tulp4	Q3UH13	p.His502Tyr	rs864286687	missense variant	-	NC_000083.6:g.6231780C>T	UniProt
Plxnd1	Q3UH93	p.Arg14Trp	rs251020982	missense variant	-	NC_000072.6:g.115994766G>A	UniProt
Plxnd1	Q3UH93	p.Pro25Leu	rs261642626	missense variant	-	NC_000072.6:g.115994732G>A	UniProt
Plxnd1	Q3UH93	p.Gly47Ser	rs221983981	missense variant	-	NC_000072.6:g.115994667C>T	UniProt
Plxnd1	Q3UH93	p.Lys253Arg	rs220047323	missense variant	-	NC_000072.6:g.115994048T>C	UniProt
Plxnd1	Q3UH93	p.Ala392Thr	rs234356730	missense variant	-	NC_000072.6:g.115993632C>T	UniProt
Plxnd1	Q3UH93	p.Ser797Asn	rs248103966	missense variant	-	NC_000072.6:g.115970211C>T	UniProt
Plxnd1	Q3UH93	p.Thr1028Ala	rs239469789	missense variant	-	NC_000072.6:g.115967750T>C	UniProt
Plxnd1	Q3UH93	p.Gly1110Asp	rs864258413	missense variant	-	NC_000072.6:g.115967198C>T	UniProt
Plxnd1	Q3UH93	p.Ile1410Leu	rs229028313	missense variant	-	NC_000072.6:g.115962789T>G	UniProt
Plxnd1	Q3UH93	p.Thr1834Ile	rs239772195	missense variant	-	NC_000072.6:g.115956680G>A	UniProt
Ndst1	Q3UHN9	p.Ser524Asn	rs107806750	missense variant	-	NC_000084.6:g.60699686C>T	UniProt
Ndst1	Q3UHN9	p.Ser524Asn	rs107806750	missense variant	-	NC_000084.6:g.60699686C>T	UniProt
Slmap	Q3URD3	p.Glu461Asp	rs224698436	missense variant	-	NC_000080.6:g.26439006T>G	UniProt
Slmap	Q3URD3	p.Thr480Pro	rs246302218	missense variant	-	NC_000080.6:g.26438951T>G	UniProt
Slmap	Q3URD3	p.Asp616Asn	rs218607968	missense variant	-	NC_000080.6:g.26427409C>T	UniProt
Slmap	Q3URD3	p.Ser652Asn	rs256663914	missense variant	-	NC_000080.6:g.26427300C>T	UniProt
Tet1	Q3URK3	p.Ser12Ala	rs257603819	missense variant	-	NC_000076.6:g.62879981A>C	UniProt
Tet1	Q3URK3	p.Ala69Thr	rs247536350	missense variant	-	NC_000076.6:g.62879810C>T	UniProt
Tet1	Q3URK3	p.Thr121Ile	rs212018942	missense variant	-	NC_000076.6:g.62879653G>A	UniProt
Tet1	Q3URK3	p.Ile138Val	rs236252616	missense variant	-	NC_000076.6:g.62879603T>C	UniProt
Tet1	Q3URK3	p.Ser151Ala	rs252394083	missense variant	-	NC_000076.6:g.62879564A>C	UniProt
Tet1	Q3URK3	p.Thr163Ser	rs233309951	missense variant	-	NC_000076.6:g.62879528T>A	UniProt
Tet1	Q3URK3	p.Ser196Arg	rs51250138	missense variant	-	NC_000076.6:g.62879429T>G	UniProt
Tet1	Q3URK3	p.Thr327Ile	rs257104258	missense variant	-	NC_000076.6:g.62879035G>A	UniProt
Tet1	Q3URK3	p.Ile335Lys	rs255749048	missense variant	-	NC_000076.6:g.62879011A>T	UniProt
Tet1	Q3URK3	p.Ser360Gly	rs229379778	missense variant	-	NC_000076.6:g.62878937T>C	UniProt
Tet1	Q3URK3	p.Gln375His	rs265197302	missense variant	-	NC_000076.6:g.62878890T>G	UniProt
Tet1	Q3URK3	p.Gly433Glu	rs258758728	missense variant	-	NC_000076.6:g.62878717C>T	UniProt
Tet1	Q3URK3	p.Thr440Ala	rs241412212	missense variant	-	NC_000076.6:g.62878697T>C	UniProt
Tet1	Q3URK3	p.Glu445Lys	rs264253446	missense variant	-	NC_000076.6:g.62878682C>T	UniProt
Tet1	Q3URK3	p.Leu491Pro	rs46821902	missense variant	-	NC_000076.6:g.62878543A>G	UniProt
Tet1	Q3URK3	p.Arg531Gln	rs262936152	missense variant	-	NC_000076.6:g.62878423C>T	UniProt
Tet1	Q3URK3	p.Met565Thr	rs234884147	missense variant	-	NC_000076.6:g.62878321A>G	UniProt
Tet1	Q3URK3	p.His756Asp	rs47275045	missense variant	-	NC_000076.6:g.62840030G>C	UniProt
Tet1	Q3URK3	p.Arg981Lys	rs227168087	missense variant	-	NC_000076.6:g.62839354C>T	UniProt
Tet1	Q3URK3	p.Asp1010Asn	rs261542846	missense variant	-	NC_000076.6:g.62839268C>T	UniProt
Tet1	Q3URK3	p.Glu1058Gly	rs46868259	missense variant	-	NC_000076.6:g.62839123T>C	UniProt
Tet1	Q3URK3	p.Lys1068Asn	rs239627659	missense variant	-	NC_000076.6:g.62839092T>G	UniProt
Tet1	Q3URK3	p.His1077Gln	rs229758684	missense variant	-	NC_000076.6:g.62839065A>T	UniProt
Tet1	Q3URK3	p.Ser1089Asn	rs222124509	missense variant	-	NC_000076.6:g.62839030C>T	UniProt
Tet1	Q3URK3	p.Ala1098Thr	rs254739759	missense variant	-	NC_000076.6:g.62839004C>T	UniProt
Tet1	Q3URK3	p.Ala1104Pro	rs48585512	missense variant	-	NC_000076.6:g.62838986C>G	UniProt
Tet1	Q3URK3	p.Ile1412Val	rs233834234	missense variant	-	NC_000076.6:g.62832965T>C	UniProt
Tet1	Q3URK3	p.Gln1793Leu	rs48115253	missense variant	-	NC_000076.6:g.62813178T>A	UniProt
Tet1	Q3URK3	p.Ala1814Val	rs46743269	missense variant	-	NC_000076.6:g.62813115G>A	UniProt
Tet1	Q3URK3	p.Ser1821Cys	rs243703438	missense variant	-	NC_000076.6:g.62813094G>C	UniProt
Tet1	Q3URK3	p.His1860Arg	rs236585059	missense variant	-	NC_000076.6:g.62812977T>C	UniProt
Tet1	Q3URK3	p.Thr1953Met	rs223805144	missense variant	-	NC_000076.6:g.62812698G>A	UniProt
Tbc1d32	Q3URV1	p.Met66Thr	rs49107684	missense variant	-	NC_000076.6:g.56224684A>G	UniProt
Tbc1d32	Q3URV1	p.Thr379Ser	rs230444589	missense variant	-	NC_000076.6:g.56187829G>C	UniProt
Tbc1d32	Q3URV1	p.Pro404Ser	rs251282513	missense variant	-	NC_000076.6:g.56187755G>A	UniProt
Tbc1d32	Q3URV1	p.Ile470Leu	rs234048124	missense variant	-	NC_000076.6:g.56177540T>G	UniProt
Tbc1d32	Q3URV1	p.Thr480Ala	rs218814431	missense variant	-	NC_000076.6:g.56177510T>C	UniProt
Tbc1d32	Q3URV1	p.Met483Val	rs47241696	missense variant	-	NC_000076.6:g.56177501T>C	UniProt
Tbc1d32	Q3URV1	p.Tyr488Cys	rs250988441	missense variant	-	NC_000076.6:g.56173978T>C	UniProt
Tbc1d32	Q3URV1	p.Met493Val	rs264736094	missense variant	-	NC_000076.6:g.56173964T>C	UniProt
Tbc1d32	Q3URV1	p.Leu523Gln	rs219701163	missense variant	-	NC_000076.6:g.56173873A>T	UniProt
Tbc1d32	Q3URV1	p.Thr529Met	rs250506109	missense variant	-	NC_000076.6:g.56173855G>A	UniProt
Tbc1d32	Q3URV1	p.Thr532Ile	rs49293634	missense variant	-	NC_000076.6:g.56173846G>A	UniProt
Tbc1d32	Q3URV1	p.Val667Glu	rs232514999	missense variant	-	NC_000076.6:g.56161147A>T	UniProt
Tbc1d32	Q3URV1	p.Leu678Val	rs257242112	missense variant	-	NC_000076.6:g.56155799A>C	UniProt
Tbc1d32	Q3URV1	p.Thr688Ile	rs239203675	missense variant	-	NC_000076.6:g.56155768G>A	UniProt
Tbc1d32	Q3URV1	p.Leu695Ile	rs245879727	missense variant	-	NC_000076.6:g.56155748G>T	UniProt
Tbc1d32	Q3URV1	p.Phe707Leu	rs217288491	missense variant	-	NC_000076.6:g.56155712A>G	UniProt
Tbc1d32	Q3URV1	p.Ala790Glu	rs230663713	missense variant	-	NC_000076.6:g.56129167G>T	UniProt
Tbc1d32	Q3URV1	p.Ala790Thr	rs254812451	missense variant	-	NC_000076.6:g.56129168C>T	UniProt
Tbc1d32	Q3URV1	p.Ala866Val	rs46095785	missense variant	-	NC_000076.6:g.56089807G>A	UniProt
Tbc1d32	Q3URV1	p.Arg1060Lys	rs213859575	missense variant	-	NC_000076.6:g.56049869C>T	UniProt
Tbc1d32	Q3URV1	p.Met1114Val	rs254142567	missense variant	-	NC_000076.6:g.56048964T>C	UniProt
Tbc1d32	Q3URV1	p.Gly1121Glu	rs239769597	missense variant	-	NC_000076.6:g.56048942C>T	UniProt
Tbc1d32	Q3URV1	p.Phe1124Leu	rs219479752	missense variant	-	NC_000076.6:g.56048934A>G	UniProt
Tbc1d32	Q3URV1	p.Asn1295Ser	rs231705180	missense variant	-	NC_000076.6:g.56017592T>C	UniProt
Lgr6	Q3UVD5	p.Ala22Gly	rs50577640	missense variant	-	NC_000067.6:g.135105076G>C	UniProt
Lgr6	Q3UVD5	p.His197Arg	rs231171919	missense variant	-	NC_000067.6:g.135027106T>C	UniProt
Lgr6	Q3UVD5	p.Arg199Gly	rs216765729	missense variant	-	NC_000067.6:g.135027101G>C	UniProt
Lgr6	Q3UVD5	p.Ser280Asn	rs30840049	missense variant	-	NC_000067.6:g.135003476C>T	UniProt
Lgr6	Q3UVD5	p.Arg385Gln	rs248300970	missense variant	-	NC_000067.6:g.134998239C>T	UniProt
Lgr6	Q3UVD5	p.Arg422Gln	rs239854985	missense variant	-	NC_000067.6:g.134997668C>T	UniProt
Lgr6	Q3UVD5	p.Pro502Gln	rs263096805	missense variant	-	NC_000067.6:g.134993931G>T	UniProt
Lgr6	Q3UVD5	p.His540Asn	rs50910866	missense variant	-	NC_000067.6:g.134990635G>T	UniProt
Lgr6	Q3UVD5	p.Leu573Ser	rs239548253	missense variant	-	NC_000067.6:g.134988122A>G	UniProt
Lgr6	Q3UVD5	p.Leu574Phe	rs252465807	missense variant	-	NC_000067.6:g.134988120G>A	UniProt
Lgr6	Q3UVD5	p.Ser611Thr	rs30920584	missense variant	-	NC_000067.6:g.134988009A>T	UniProt
Lgr6	Q3UVD5	p.Pro723Ser	rs1133059923	missense variant	-	NC_000067.6:g.134987673G>A	UniProt
Lgr6	Q3UVD5	p.Val918Ile	rs3661512	missense variant	-	NC_000067.6:g.134987088C>T	UniProt
Lgr6	Q3UVD5	p.Val952Met	rs237974529	missense variant	-	NC_000067.6:g.134986986C>T	UniProt
Ermp1	Q3UVK0	p.Ala9Thr	rs254709069	missense variant	-	NC_000085.6:g.29648331C>T	UniProt
Ermp1	Q3UVK0	p.Gln36Arg	rs227947585	missense variant	-	NC_000085.6:g.29648249T>C	UniProt
Ermp1	Q3UVK0	p.Val153Ile	rs226431300	missense variant	-	NC_000085.6:g.29646132C>T	UniProt
Ermp1	Q3UVK0	p.His375Tyr	rs216984817	missense variant	-	NC_000085.6:g.29628790G>A	UniProt
Ermp1	Q3UVK0	p.Ala438Thr	rs213677021	missense variant	-	NC_000085.6:g.29627065C>T	UniProt
Ermp1	Q3UVK0	p.Asp523Asn	rs1131933409	missense variant	-	NC_000085.6:g.29623779C>T	UniProt
Ermp1	Q3UVK0	p.Arg838Gln	rs215251773	missense variant	-	NC_000085.6:g.29612788C>T	UniProt
Mthfd1l	Q3V3R1	p.Val3Ala	rs234949532	missense variant	-	NC_000076.6:g.3973262T>C	UniProt
Mthfd1l	Q3V3R1	p.Val100Ala	rs29320259	missense variant	-	NC_000076.6:g.3978708T>C	UniProt
Mthfd1l	Q3V3R1	p.Lys111Gln	rs245687503	missense variant	-	NC_000076.6:g.3980237A>C	UniProt
Mthfd1l	Q3V3R1	p.Ile184Val	rs48525587	missense variant	-	NC_000076.6:g.3985576A>G	UniProt
Mthfd1l	Q3V3R1	p.Lys204Arg	rs234730719	missense variant	-	NC_000076.6:g.3985637A>G	UniProt
Mthfd1l	Q3V3R1	p.Val225Ile	rs261023342	missense variant	-	NC_000076.6:g.3989893G>A	UniProt
Mthfd1l	Q3V3R1	p.Trp237Cys	rs263842122	missense variant	-	NC_000076.6:g.3989931G>T	UniProt
Mthfd1l	Q3V3R1	p.Arg241Lys	rs1132514290	missense variant	-	NC_000076.6:g.3989942G>A	UniProt
Mthfd1l	Q3V3R1	p.Val279Ala	rs29378605	missense variant	-	NC_000076.6:g.4007800T>C	UniProt
Mthfd1l	Q3V3R1	p.Leu524Val	rs212181272	missense variant	-	NC_000076.6:g.4033313T>G	UniProt
Mthfd1l	Q3V3R1	p.Ala568Ser	rs217746435	missense variant	-	NC_000076.6:g.4035297G>T	UniProt
Mthfd1l	Q3V3R1	p.Val3Ala	rs234949532	missense variant	-	NC_000076.6:g.3973262T>C	UniProt
Mthfd1l	Q3V3R1	p.Val100Ala	rs29320259	missense variant	-	NC_000076.6:g.3978708T>C	UniProt
Mthfd1l	Q3V3R1	p.Lys111Gln	rs245687503	missense variant	-	NC_000076.6:g.3980237A>C	UniProt
Mthfd1l	Q3V3R1	p.Ile184Val	rs48525587	missense variant	-	NC_000076.6:g.3985576A>G	UniProt
Mthfd1l	Q3V3R1	p.Lys204Arg	rs234730719	missense variant	-	NC_000076.6:g.3985637A>G	UniProt
Mthfd1l	Q3V3R1	p.Val225Ile	rs261023342	missense variant	-	NC_000076.6:g.3989893G>A	UniProt
Mthfd1l	Q3V3R1	p.Trp237Cys	rs263842122	missense variant	-	NC_000076.6:g.3989931G>T	UniProt
Mthfd1l	Q3V3R1	p.Arg241Lys	rs1132514290	missense variant	-	NC_000076.6:g.3989942G>A	UniProt
Mthfd1l	Q3V3R1	p.Val279Ala	rs29378605	missense variant	-	NC_000076.6:g.4007800T>C	UniProt
Mthfd1l	Q3V3R1	p.Leu524Val	rs212181272	missense variant	-	NC_000076.6:g.4033313T>G	UniProt
Mthfd1l	Q3V3R1	p.Ala568Ser	rs217746435	missense variant	-	NC_000076.6:g.4035297G>T	UniProt
Mthfd1l	Q3V3R1	p.Val3Ala	rs234949532	missense variant	-	NC_000076.6:g.3973262T>C	UniProt
Mthfd1l	Q3V3R1	p.Val100Ala	rs29320259	missense variant	-	NC_000076.6:g.3978708T>C	UniProt
Mthfd1l	Q3V3R1	p.Lys111Gln	rs245687503	missense variant	-	NC_000076.6:g.3980237A>C	UniProt
Mthfd1l	Q3V3R1	p.Ile184Val	rs48525587	missense variant	-	NC_000076.6:g.3985576A>G	UniProt
Mthfd1l	Q3V3R1	p.Lys204Arg	rs234730719	missense variant	-	NC_000076.6:g.3985637A>G	UniProt
Mthfd1l	Q3V3R1	p.Val225Ile	rs261023342	missense variant	-	NC_000076.6:g.3989893G>A	UniProt
Mthfd1l	Q3V3R1	p.Trp237Cys	rs263842122	missense variant	-	NC_000076.6:g.3989931G>T	UniProt
Mthfd1l	Q3V3R1	p.Arg241Lys	rs1132514290	missense variant	-	NC_000076.6:g.3989942G>A	UniProt
Mthfd1l	Q3V3R1	p.Val279Ala	rs29378605	missense variant	-	NC_000076.6:g.4007800T>C	UniProt
Mthfd1l	Q3V3R1	p.Leu524Val	rs212181272	missense variant	-	NC_000076.6:g.4033313T>G	UniProt
Mthfd1l	Q3V3R1	p.Ala568Ser	rs217746435	missense variant	-	NC_000076.6:g.4035297G>T	UniProt
Dzip1l	Q499E4	p.Pro14Leu	rs244012654	missense variant	-	NC_000075.6:g.99637462C>T	UniProt
Dzip1l	Q499E4	p.Ala240Thr	rs252472664	missense variant	-	NC_000075.6:g.99642545G>A	UniProt
Dzip1l	Q499E4	p.Val322Leu	rs253641833	missense variant	-	NC_000075.6:g.99647183G>C	UniProt
Dzip1l	Q499E4	p.Gln326Arg	rs46359554	missense variant	-	NC_000075.6:g.99647196A>G	UniProt
Dzip1l	Q499E4	p.Ile380Thr	rs244072273	missense variant	-	NC_000075.6:g.99650993T>C	UniProt
Dzip1l	Q499E4	p.Thr403Ser	rs29895430	missense variant	-	NC_000075.6:g.99654866A>T	UniProt
Dzip1l	Q499E4	p.Arg488Cys	rs46661888	missense variant	-	NC_000075.6:g.99660955C>T	UniProt
Dzip1l	Q499E4	p.Arg505Leu	rs227296695	missense variant	-	NC_000075.6:g.99661007G>T	UniProt
Dzip1l	Q499E4	p.Gln524Lys	rs256239475	missense variant	-	NC_000075.6:g.99661063C>A	UniProt
Dzip1l	Q499E4	p.Thr529Met	rs29599108	missense variant	-	NC_000075.6:g.99661079C>T	UniProt
Dzip1l	Q499E4	p.Ala560Thr	rs230870760	missense variant	-	NC_000075.6:g.99663006G>A	UniProt
Dzip1l	Q499E4	p.Thr570Met	rs255148466	missense variant	-	NC_000075.6:g.99663037C>T	UniProt
Dzip1l	Q499E4	p.Ala642Thr	rs51155401	missense variant	-	NC_000075.6:g.99663620G>A	UniProt
Dzip1l	Q499E4	p.Lys643Glu	rs262808974	missense variant	-	NC_000075.6:g.99663623A>G	UniProt
Dzip1l	Q499E4	p.Asn647Ser	rs29931608	missense variant	-	NC_000075.6:g.99663636A>G	UniProt
Dzip1l	Q499E4	p.Glu658Asp	rs243112883	missense variant	-	NC_000075.6:g.99663670G>C	UniProt
Dzip1l	Q499E4	p.Ala707Thr	rs265145843	missense variant	-	NC_000075.6:g.99665813G>A	UniProt
Dzip1l	Q499E4	p.Leu721Phe	rs30182448	missense variant	-	NC_000075.6:g.99667639C>T	UniProt
Dzip1l	Q499E4	p.Val728Leu	rs246397566	missense variant	-	NC_000075.6:g.99667660G>T	UniProt
Dzip1l	Q499E4	p.Gly741Arg	rs49171934	missense variant	-	NC_000075.6:g.99667699G>C	UniProt
Dzip1l	Q499E4	p.His751Tyr	rs49436416	missense variant	-	NC_000075.6:g.99667729C>T	UniProt
Dzip1l	Q499E4	p.Asp759Tyr	rs46471374	missense variant	-	NC_000075.6:g.99667753G>T	UniProt
Dzip1l	Q499E4	p.Pro14Leu	rs244012654	missense variant	-	NC_000075.6:g.99637462C>T	UniProt
Dzip1l	Q499E4	p.Ala240Thr	rs252472664	missense variant	-	NC_000075.6:g.99642545G>A	UniProt
Dzip1l	Q499E4	p.Val322Leu	rs253641833	missense variant	-	NC_000075.6:g.99647183G>C	UniProt
Dzip1l	Q499E4	p.Gln326Arg	rs46359554	missense variant	-	NC_000075.6:g.99647196A>G	UniProt
Dzip1l	Q499E4	p.Ile380Thr	rs244072273	missense variant	-	NC_000075.6:g.99650993T>C	UniProt
Dzip1l	Q499E4	p.Thr403Ser	rs29895430	missense variant	-	NC_000075.6:g.99654866A>T	UniProt
Dzip1l	Q499E4	p.Arg488Cys	rs46661888	missense variant	-	NC_000075.6:g.99660955C>T	UniProt
Dzip1l	Q499E4	p.Arg505Leu	rs227296695	missense variant	-	NC_000075.6:g.99661007G>T	UniProt
Dzip1l	Q499E4	p.Gln524Lys	rs256239475	missense variant	-	NC_000075.6:g.99661063C>A	UniProt
Dzip1l	Q499E4	p.Thr529Met	rs29599108	missense variant	-	NC_000075.6:g.99661079C>T	UniProt
Dzip1l	Q499E4	p.Ala560Thr	rs230870760	missense variant	-	NC_000075.6:g.99663006G>A	UniProt
Dzip1l	Q499E4	p.Thr570Met	rs255148466	missense variant	-	NC_000075.6:g.99663037C>T	UniProt
Dzip1l	Q499E4	p.Ala642Thr	rs51155401	missense variant	-	NC_000075.6:g.99663620G>A	UniProt
Dzip1l	Q499E4	p.Lys643Glu	rs262808974	missense variant	-	NC_000075.6:g.99663623A>G	UniProt
Dzip1l	Q499E4	p.Asn647Ser	rs29931608	missense variant	-	NC_000075.6:g.99663636A>G	UniProt
Dzip1l	Q499E4	p.Glu658Asp	rs243112883	missense variant	-	NC_000075.6:g.99663670G>C	UniProt
Dzip1l	Q499E4	p.Ala707Thr	rs265145843	missense variant	-	NC_000075.6:g.99665813G>A	UniProt
Dzip1l	Q499E4	p.Leu721Phe	rs30182448	missense variant	-	NC_000075.6:g.99667639C>T	UniProt
Dzip1l	Q499E4	p.Val728Leu	rs246397566	missense variant	-	NC_000075.6:g.99667660G>T	UniProt
Dzip1l	Q499E4	p.Gly741Arg	rs49171934	missense variant	-	NC_000075.6:g.99667699G>C	UniProt
Dzip1l	Q499E4	p.His751Tyr	rs49436416	missense variant	-	NC_000075.6:g.99667729C>T	UniProt
Dzip1l	Q499E4	p.Asp759Tyr	rs46471374	missense variant	-	NC_000075.6:g.99667753G>T	UniProt
Syne3	Q4FZC9	p.Ala42Glu	rs225764808	missense variant	-	NC_000078.6:g.104975757G>T	UniProt
Syne3	Q4FZC9	p.Met58Lys	rs250096773	missense variant	-	NC_000078.6:g.104969345A>T	UniProt
Syne3	Q4FZC9	p.Met58Ile	rs33184070	missense variant	-	NC_000078.6:g.104969344C>G	UniProt
Syne3	Q4FZC9	p.Met58Leu	rs48707589	missense variant	-	NC_000078.6:g.104969346T>A	UniProt
Syne3	Q4FZC9	p.Ala135Thr	rs387448629	missense variant	-	NC_000078.6:g.104968106C>T	UniProt
Syne3	Q4FZC9	p.Asp228Asn	rs246077403	missense variant	-	NC_000078.6:g.104963278C>T	UniProt
Syne3	Q4FZC9	p.Lys242Asn	rs223536254	missense variant	-	NC_000078.6:g.104963234C>G	UniProt
Syne3	Q4FZC9	p.Leu257Arg	rs251260722	missense variant	-	NC_000078.6:g.104963190A>C	UniProt
Syne3	Q4FZC9	p.Arg258Cys	rs233561606	missense variant	-	NC_000078.6:g.104963188G>A	UniProt
Syne3	Q4FZC9	p.Gln288Arg	rs220932439	missense variant	-	NC_000078.6:g.104961600T>C	UniProt
Syne3	Q4FZC9	p.Arg324Gln	rs235355486	missense variant	-	NC_000078.6:g.104961492C>T	UniProt
Syne3	Q4FZC9	p.Asp346Glu	rs226829764	missense variant	-	NC_000078.6:g.104961425G>C	UniProt
Syne3	Q4FZC9	p.Lys348Arg	rs255224272	missense variant	-	NC_000078.6:g.104961420T>C	UniProt
Syne3	Q4FZC9	p.Ser350Asn	rs236831668	missense variant	-	NC_000078.6:g.104961414C>T	UniProt
Syne3	Q4FZC9	p.Leu359Met	rs213268339	missense variant	-	NC_000078.6:g.104961388A>T	UniProt
Syne3	Q4FZC9	p.Pro577Leu	rs257505079	missense variant	-	NC_000078.6:g.104954206G>A	UniProt
Syne3	Q4FZC9	p.Val646Ile	rs230605088	missense variant	-	NC_000078.6:g.104947026C>T	UniProt
Syne3	Q4FZC9	p.Ser657Leu	rs33182674	missense variant	-	NC_000078.6:g.104946992G>A	UniProt
Syne3	Q4FZC9	p.Arg678Cys	rs228985749	missense variant	-	NC_000078.6:g.104946930G>A	UniProt
Syne3	Q4FZC9	p.Thr691Met	rs33180831	missense variant	-	NC_000078.6:g.104946737G>A	UniProt
Syne3	Q4FZC9	p.Pro697Leu	rs29167927	missense variant	-	NC_000078.6:g.104946719G>A	UniProt
Syne3	Q4FZC9	p.Thr723Ala	rs29163734	missense variant	-	NC_000078.6:g.104946642T>C	UniProt
Syne3	Q4FZC9	p.Gln789Arg	rs29216358	missense variant	-	NC_000078.6:g.104945088T>C	UniProt
Syne3	Q4FZC9	p.Glu802Gly	rs245938121	missense variant	-	NC_000078.6:g.104943432T>C	UniProt
Syne3	Q4FZC9	p.Arg823His	rs33184598	missense variant	-	NC_000078.6:g.104943369C>T	UniProt
Syne3	Q4FZC9	p.Arg837Lys	rs241144287	missense variant	-	NC_000078.6:g.104943327C>T	UniProt
Pds5b	Q4VA53	p.Thr584Ser	rs1135258448	missense variant	-	NC_000071.6:g.150761029C>G	UniProt
Pds5b	Q4VA53	p.Leu598Ter	rs1134067771	stop gained	-	NC_000071.6:g.150761071T>A	UniProt
Pds5b	Q4VA53	p.Pro1204Ser	rs224391469	missense variant	-	NC_000071.6:g.150796662C>T	UniProt
Pds5b	Q4VA53	p.Lys1387Gln	rs252310653	missense variant	-	NC_000071.6:g.150801222A>C	UniProt
Pds5b	Q4VA53	p.Ile1389MetTerUnk	rs243049218	stop gained	-	NC_000071.6:g.150801232_150801235dup	UniProt
Pds5b	Q4VA53	p.Ser1440Ile	rs260407178	missense variant	-	NC_000071.6:g.150807826G>T	UniProt
Tapt1	Q4VBD2	p.Pro486Ser	rs226625217	missense variant	-	NC_000071.6:g.44178870G>A	UniProt
Tapt1	Q4VBD2	p.Thr492Arg	rs36323740	missense variant	-	NC_000071.6:g.44177173G>C	UniProt
Tapt1	Q4VBD2	p.Asn519Thr	rs239594919	missense variant	-	NC_000071.6:g.44177092T>G	UniProt
Cenpj	Q569L8	p.Pro95His	rs231139529	missense variant	-	NC_000080.6:g.56564823G>T	UniProt
Cenpj	Q569L8	p.Glu164Lys	rs30597414	missense variant	-	NC_000080.6:g.56564025C>T	UniProt
Cenpj	Q569L8	p.Pro202Ser	rs257805905	missense variant	-	NC_000080.6:g.56558795G>A	UniProt
Cenpj	Q569L8	p.Ala349Pro	rs258359429	missense variant	-	NC_000080.6:g.56553546C>G	UniProt
Cenpj	Q569L8	p.Gln392His	rs1134052817	missense variant	-	NC_000080.6:g.56553415C>A	UniProt
Cenpj	Q569L8	p.Ser393Cys	rs1131861333	missense variant	-	NC_000080.6:g.56553414T>A	UniProt
Cenpj	Q569L8	p.Gly479Val	rs254660828	missense variant	-	NC_000080.6:g.56553155C>A	UniProt
Cenpj	Q569L8	p.Ser486Asn	rs231009757	missense variant	-	NC_000080.6:g.56553134C>T	UniProt
Cenpj	Q569L8	p.Gly510Glu	rs212339936	missense variant	-	NC_000080.6:g.56553062C>T	UniProt
Cenpj	Q569L8	p.Val633Phe	rs229344511	missense variant	-	NC_000080.6:g.56552694C>A	UniProt
Cenpj	Q569L8	p.Leu656Phe	rs50210751	missense variant	-	NC_000080.6:g.56552623C>A	UniProt
Cenpj	Q569L8	p.Ile675Asn	rs216836850	missense variant	-	NC_000080.6:g.56552567A>T	UniProt
Cenpj	Q569L8	p.Thr693Ser	rs223380764	missense variant	-	NC_000080.6:g.56552514T>A	UniProt
Cenpj	Q569L8	p.Glu694Asp	rs262730312	missense variant	-	NC_000080.6:g.56552509C>A	UniProt
Cenpj	Q569L8	p.Ile730Phe	rs232361043	missense variant	-	NC_000080.6:g.56552403T>A	UniProt
Cenpj	Q569L8	p.Ala778Val	rs265410019	missense variant	-	NC_000080.6:g.56552258G>A	UniProt
Cenpj	Q569L8	p.Ser780Asn	rs242466423	missense variant	-	NC_000080.6:g.56552252C>T	UniProt
Cenpj	Q569L8	p.Met892Thr	rs212852731	missense variant	-	NC_000080.6:g.56549571A>G	UniProt
Cenpj	Q569L8	p.Lys963Met	rs1134874977	missense variant	-	NC_000080.6:g.56542865T>A	UniProt
Cenpj	Q569L8	p.Glu964Gln	rs1134018017	missense variant	-	NC_000080.6:g.56542863C>G	UniProt
Cenpj	Q569L8	p.Glu965Ter	rs1131834927	stop gained	-	NC_000080.6:g.56542860C>A	UniProt
Cenpj	Q569L8	p.Arg967Ser	rs1134682638	missense variant	-	NC_000080.6:g.56542852C>A	UniProt
Cenpj	Q569L8	p.Ile1159Val	rs233290481	missense variant	-	NC_000080.6:g.56532256T>C	UniProt
Cenpj	Q569L8	p.Arg1174Cys	rs6299080	missense variant	-	NC_000080.6:g.56530166G>A	UniProt
Cenpj	Q569L8	p.Pro95His	rs231139529	missense variant	-	NC_000080.6:g.56564823G>T	UniProt
Cenpj	Q569L8	p.Glu164Lys	rs30597414	missense variant	-	NC_000080.6:g.56564025C>T	UniProt
Cenpj	Q569L8	p.Pro202Ser	rs257805905	missense variant	-	NC_000080.6:g.56558795G>A	UniProt
Cenpj	Q569L8	p.Ala349Pro	rs258359429	missense variant	-	NC_000080.6:g.56553546C>G	UniProt
Cenpj	Q569L8	p.Gln392His	rs1134052817	missense variant	-	NC_000080.6:g.56553415C>A	UniProt
Cenpj	Q569L8	p.Ser393Cys	rs1131861333	missense variant	-	NC_000080.6:g.56553414T>A	UniProt
Cenpj	Q569L8	p.Gly479Val	rs254660828	missense variant	-	NC_000080.6:g.56553155C>A	UniProt
Cenpj	Q569L8	p.Ser486Asn	rs231009757	missense variant	-	NC_000080.6:g.56553134C>T	UniProt
Cenpj	Q569L8	p.Gly510Glu	rs212339936	missense variant	-	NC_000080.6:g.56553062C>T	UniProt
Cenpj	Q569L8	p.Val633Phe	rs229344511	missense variant	-	NC_000080.6:g.56552694C>A	UniProt
Cenpj	Q569L8	p.Leu656Phe	rs50210751	missense variant	-	NC_000080.6:g.56552623C>A	UniProt
Cenpj	Q569L8	p.Ile675Asn	rs216836850	missense variant	-	NC_000080.6:g.56552567A>T	UniProt
Cenpj	Q569L8	p.Thr693Ser	rs223380764	missense variant	-	NC_000080.6:g.56552514T>A	UniProt
Cenpj	Q569L8	p.Glu694Asp	rs262730312	missense variant	-	NC_000080.6:g.56552509C>A	UniProt
Cenpj	Q569L8	p.Ile730Phe	rs232361043	missense variant	-	NC_000080.6:g.56552403T>A	UniProt
Cenpj	Q569L8	p.Ala778Val	rs265410019	missense variant	-	NC_000080.6:g.56552258G>A	UniProt
Cenpj	Q569L8	p.Ser780Asn	rs242466423	missense variant	-	NC_000080.6:g.56552252C>T	UniProt
Cenpj	Q569L8	p.Met892Thr	rs212852731	missense variant	-	NC_000080.6:g.56549571A>G	UniProt
Cenpj	Q569L8	p.Lys963Met	rs1134874977	missense variant	-	NC_000080.6:g.56542865T>A	UniProt
Cenpj	Q569L8	p.Glu964Gln	rs1134018017	missense variant	-	NC_000080.6:g.56542863C>G	UniProt
Cenpj	Q569L8	p.Glu965Ter	rs1131834927	stop gained	-	NC_000080.6:g.56542860C>A	UniProt
Cenpj	Q569L8	p.Arg967Ser	rs1134682638	missense variant	-	NC_000080.6:g.56542852C>A	UniProt
Cenpj	Q569L8	p.Ile1159Val	rs233290481	missense variant	-	NC_000080.6:g.56532256T>C	UniProt
Cenpj	Q569L8	p.Arg1174Cys	rs6299080	missense variant	-	NC_000080.6:g.56530166G>A	UniProt
Tshz1	Q5DTH5	p.Ala31Ser	rs235929467	missense variant	-	NC_000084.6:g.84016191C>A	UniProt
Tshz1	Q5DTH5	p.Asn140Ser	rs29869908	missense variant	-	NC_000084.6:g.84015863T>C	UniProt
Tshz1	Q5DTH5	p.Val370Met	rs221445531	missense variant	-	NC_000084.6:g.84015174C>T	UniProt
Tshz1	Q5DTH5	p.Ser377Asn	rs30202302	missense variant	-	NC_000084.6:g.84015152C>T	UniProt
Tshz1	Q5DTH5	p.Lys484Asn	rs1131956783	missense variant	-	NC_000084.6:g.84014830C>A	UniProt
Tshz1	Q5DTH5	p.Thr665Pro	rs212363263	missense variant	-	NC_000084.6:g.84014289T>G	UniProt
Tshz1	Q5DTH5	p.Thr1026Ala	rs260462971	missense variant	-	NC_000084.6:g.84013206T>C	UniProt
Mybphl	Q5FW53	p.Ala19Ser	rs29609888	missense variant	-	NC_000069.6:g.108365051G>T	UniProt
Mybphl	Q5FW53	p.Arg66Gln	rs260912970	missense variant	-	NC_000069.6:g.108374166G>A	UniProt
Mybphl	Q5FW53	p.Thr138Ala	rs260992320	missense variant	-	NC_000069.6:g.108374867A>G	UniProt
Mybphl	Q5FW53	p.Asn209Asp	rs29603706	missense variant	-	NC_000069.6:g.108375420A>G	UniProt
Mybphl	Q5FW53	p.Leu302Ile	rs261270553	missense variant	-	NC_000069.6:g.108377342C>A	UniProt
Grhl3	Q5FWH3	p.Arg74Gln	rs27580850	missense variant	-	NC_000070.6:g.135559148C>T	UniProt
Grhl3	Q5FWH3	p.Thr141Asn	rs259420198	missense variant	-	NC_000070.6:g.135557358G>T	UniProt
Grhl3	Q5FWH3	p.Asp161Glu	rs27580863	missense variant	-	NC_000070.6:g.135557297G>T	UniProt
Grhl3	Q5FWH3	p.Thr444Ile	rs243368762	missense variant	-	NC_000070.6:g.135551837G>A	UniProt
Grhl3	Q5FWH3	p.Ile461Asn	rs27580905	missense variant	-	NC_000070.6:g.135551786A>T	UniProt
Dph1	Q5NCQ5	p.Ala10Thr	rs264860964	missense variant	-	NC_000077.6:g.75190432C>T	UniProt
Dph1	Q5NCQ5	p.Glu333Gly	rs244130185	missense variant	-	NC_000077.6:g.75180570T>C	UniProt
Dph1	Q5NCQ5	p.Tyr393His	rs238147320	missense variant	-	NC_000077.6:g.75179223A>G	UniProt
Dph1	Q5NCQ5	p.Asn427Ser	rs13463275	missense variant	-	NC_000077.6:g.75178979T>C	UniProt
Dph1	Q5NCQ5	p.Pro436Ser	rs249247604	missense variant	-	NC_000077.6:g.75178953G>A	UniProt
Pkdcc	Q5RJI4	p.Gly76Glu	rs224216650	missense variant	-	NC_000083.6:g.83215692G>A	UniProt
Pkdcc	Q5RJI4	p.Asn288Ser	rs50330206	missense variant	-	NC_000083.6:g.83221066A>G	UniProt
Pkdcc	Q5RJI4	p.Ala375Thr	rs254784023	missense variant	-	NC_000083.6:g.83222134G>A	UniProt
Pkdcc	Q5RJI4	p.Ala388Val	rs49862426	missense variant	-	NC_000083.6:g.83222174C>T	UniProt
Pkdcc	Q5RJI4	p.Thr417Ile	rs259840819	missense variant	-	NC_000083.6:g.83223813C>T	UniProt
Tent5c	Q5SSF7	p.Ala103Val	rs213761748	missense variant	-	NC_000069.6:g.100473131G>A	UniProt
Tent5c	Q5SSF7	p.Gly199Ser	rs246159105	missense variant	-	NC_000069.6:g.100472844C>T	UniProt
Tent5c	Q5SSF7	p.Asp298Glu	rs263106434	missense variant	-	NC_000069.6:g.100472545G>C	UniProt
Mks1	Q5SW45	p.Glu75Asp	rs249398780	missense variant	-	NC_000077.6:g.87855012G>C	UniProt
Mks1	Q5SW45	p.Val77Ile	rs219864966	missense variant	-	NC_000077.6:g.87855016G>A	UniProt
Mks1	Q5SW45	p.Tyr134Phe	rs28262808	missense variant	-	NC_000077.6:g.87855611A>T	UniProt
Mks1	Q5SW45	p.Lys192Arg	rs51587946	missense variant	-	NC_000077.6:g.87856867A>G	UniProt
Mks1	Q5SW45	p.Gly244Ser	rs220621183	missense variant	-	NC_000077.6:g.87857272G>A	UniProt
Mks1	Q5SW45	p.Arg478His	rs28262764	missense variant	-	NC_000077.6:g.87862584G>A	UniProt
Mks1	Q5SW45	p.Gln509Arg	rs45662066	missense variant	-	NC_000077.6:g.87862767A>G	UniProt
Brip1	Q5SXJ3	p.Asp7Glu	rs225702215	missense variant	-	NC_000077.6:g.86198944G>T	UniProt
Brip1	Q5SXJ3	p.Glu130Gly	rs240858129	missense variant	-	NC_000077.6:g.86189850T>C	UniProt
Brip1	Q5SXJ3	p.Ser209Phe	rs265263692	missense variant	-	NC_000077.6:g.86186975G>A	UniProt
Brip1	Q5SXJ3	p.Asp239Val	rs261980424	missense variant	-	NC_000077.6:g.86157799T>A	UniProt
Brip1	Q5SXJ3	p.Gly431Ser	rs255276604	missense variant	-	NC_000077.6:g.86148416C>T	UniProt
Brip1	Q5SXJ3	p.Val500Ile	rs242200913	missense variant	-	NC_000077.6:g.86143396C>T	UniProt
Brip1	Q5SXJ3	p.Gln872Arg	rs212844815	missense variant	-	NC_000077.6:g.86065071T>C	UniProt
Brip1	Q5SXJ3	p.Phe922Ile	rs248703226	missense variant	-	NC_000077.6:g.86064922A>T	UniProt
Brip1	Q5SXJ3	p.Ser936Leu	rs231432638	missense variant	-	NC_000077.6:g.86064879G>A	UniProt
Brip1	Q5SXJ3	p.Thr954Asn	rs265372877	missense variant	-	NC_000077.6:g.86064825G>T	UniProt
Brip1	Q5SXJ3	p.Lys1021Arg	rs27014720	missense variant	-	NC_000077.6:g.86061892T>C	UniProt
Brip1	Q5SXJ3	p.Asp1059Gly	rs260726615	missense variant	-	NC_000077.6:g.86061778T>C	UniProt
Brip1	Q5SXJ3	p.Leu1062Arg	rs217151754	missense variant	-	NC_000077.6:g.86061769A>C	UniProt
Brip1	Q5SXJ3	p.Leu1066Pro	rs27014721	missense variant	-	NC_000077.6:g.86061757A>G	UniProt
Brip1	Q5SXJ3	p.Tyr1085His	rs231306727	missense variant	-	NC_000077.6:g.86061701A>G	UniProt
Brip1	Q5SXJ3	p.Val1089Glu	rs214000999	missense variant	-	NC_000077.6:g.86061688A>T	UniProt
Rfc1	Q5U4B1	p.Gly48Cys	rs31457277	missense variant	-	NC_000071.6:g.65313021C>A	UniProt
Rfc1	Q5U4B1	p.Ala52Thr	rs253070273	missense variant	-	NC_000071.6:g.65313009C>T	UniProt
Rfc1	Q5U4B1	p.Asn66Tyr	rs31457275	missense variant	-	NC_000071.6:g.65312967T>A	UniProt
Rfc1	Q5U4B1	p.Gln99Arg	rs31455532	missense variant	-	NC_000071.6:g.65311073T>C	UniProt
Rfc1	Q5U4B1	p.Ser172Gly	rs31453890	missense variant	-	NC_000071.6:g.65303023T>C	UniProt
Rfc1	Q5U4B1	p.Ser195Ala	rs242621034	missense variant	-	NC_000071.6:g.65301989A>C	UniProt
Rfc1	Q5U4B1	p.Ala212Thr	rs228696119	missense variant	-	NC_000071.6:g.65301938C>T	UniProt
Rfc1	Q5U4B1	p.Asp256Ala	rs241842982	missense variant	-	NC_000071.6:g.65295995T>G	UniProt
Rfc1	Q5U4B1	p.His285Tyr	rs223366305	missense variant	-	NC_000071.6:g.65293891G>A	UniProt
Rfc1	Q5U4B1	p.Arg303Gln	rs217188784	missense variant	-	NC_000071.6:g.65293836C>T	UniProt
Rfc1	Q5U4B1	p.Lys482Arg	rs31449484	missense variant	-	NC_000071.6:g.65284883T>C	UniProt
Rfc1	Q5U4B1	p.Leu531Pro	rs233416848	missense variant	-	NC_000071.6:g.65279702A>G	UniProt
Rfc1	Q5U4B1	p.Asn559Ser	rs29678190	missense variant	-	NC_000071.6:g.65279618T>C	UniProt
Rfc1	Q5U4B1	p.Gln589His	rs244708426	missense variant	-	NC_000071.6:g.65279527C>A	UniProt
Rfc1	Q5U4B1	p.Cys806Ser	rs31453753	missense variant	-	NC_000071.6:g.65274024C>G	UniProt
Rfc1	Q5U4B1	p.Lys1007Thr	rs31451036	missense variant	-	NC_000071.6:g.65266205T>G	UniProt
Rfc1	Q5U4B1	p.Ala1044Ser	rs31449082	missense variant	-	NC_000071.6:g.65264425C>A	UniProt
Rfc1	Q5U4B1	p.Phe1083Leu	rs216648882	missense variant	-	NC_000071.6:g.65264306G>T	UniProt
Tbx2	Q60707	p.Gly49Ala	rs239265491	missense variant	-	NC_000077.6:g.85833252G>C	UniProt
Tbx2	Q60707	p.Gly412Asp	rs29419932	missense variant	-	NC_000077.6:g.85838027G>A	UniProt
Tbx2	Q60707	p.Asp414Asn	rs215905452	missense variant	-	NC_000077.6:g.85838032G>A	UniProt
Tbx2	Q60707	p.Gly440Val	rs260446782	missense variant	-	NC_000077.6:g.85838111G>T	UniProt
Dvl2	Q60838	p.Glu109Gly	rs587587008	missense variant	-	NC_000077.6:g.70005216A>G	UniProt
Dvl2	Q60838	p.Asn139Lys	rs13470257	missense variant	-	NC_000077.6:g.70005443T>A	UniProt
Dvl2	Q60838	p.Gly599Arg	rs864305421	missense variant	-	NC_000077.6:g.70009176G>A	UniProt
Dvl2	Q60838	p.Glu109Gly	rs587587008	missense variant	-	NC_000077.6:g.70005216A>G	UniProt
Dvl2	Q60838	p.Asn139Lys	rs13470257	missense variant	-	NC_000077.6:g.70005443T>A	UniProt
Dvl2	Q60838	p.Gly599Arg	rs864305421	missense variant	-	NC_000077.6:g.70009176G>A	UniProt
Dvl2	Q60838	p.Glu109Gly	rs587587008	missense variant	-	NC_000077.6:g.70005216A>G	UniProt
Dvl2	Q60838	p.Asn139Lys	rs13470257	missense variant	-	NC_000077.6:g.70005443T>A	UniProt
Dvl2	Q60838	p.Gly599Arg	rs864305421	missense variant	-	NC_000077.6:g.70009176G>A	UniProt
Slc6a4	Q60857	p.Lys37Arg	rs245614940	missense variant	-	NC_000077.6:g.77010550A>G	UniProt
Slc6a4	Q60857	p.Gly39Glu	rs13481111	missense variant	-	NC_000077.6:g.77010556G>A	UniProt
Slc6a4	Q60857	p.Thr63Met	rs226186887	missense variant	-	NC_000077.6:g.77010628C>T	UniProt
Slc6a4	Q60857	p.Lys152Arg	rs29413009	missense variant	-	NC_000077.6:g.77013032A>G	UniProt
Slc6a4	Q60857	p.Val511Ala	rs243731445	missense variant	-	NC_000077.6:g.77021473T>C	UniProt
Slc6a4	Q60857	p.Lys37Arg	rs245614940	missense variant	-	NC_000077.6:g.77010550A>G	UniProt
Slc6a4	Q60857	p.Gly39Glu	rs13481111	missense variant	-	NC_000077.6:g.77010556G>A	UniProt
Slc6a4	Q60857	p.Thr63Met	rs226186887	missense variant	-	NC_000077.6:g.77010628C>T	UniProt
Slc6a4	Q60857	p.Lys152Arg	rs29413009	missense variant	-	NC_000077.6:g.77013032A>G	UniProt
Slc6a4	Q60857	p.Val511Ala	rs243731445	missense variant	-	NC_000077.6:g.77021473T>C	UniProt
Foxg1	Q60987	p.Gln74Pro	rs260507529	missense variant	-	NC_000078.6:g.49384706A>C	UniProt
Foxg1	Q60987	p.Thr106Ala	rs579772465	missense variant	-	NC_000078.6:g.49384801A>G	UniProt
Foxg1	Q60987	p.Gln74Pro	rs260507529	missense variant	-	NC_000078.6:g.49384706A>C	UniProt
Foxg1	Q60987	p.Thr106Ala	rs579772465	missense variant	-	NC_000078.6:g.49384801A>G	UniProt
Sim2	Q61079	p.Gly254Ser	rs1133174162	missense variant	-	NC_000082.6:g.94114939G>A	UniProt
Sim2	Q61079	p.Tyr337Phe	rs233880059	missense variant	-	NC_000082.6:g.94122614A>T	UniProt
Sim2	Q61079	p.Ser512Pro	rs46772147	missense variant	-	NC_000082.6:g.94123531T>C	UniProt
Sim2	Q61079	p.Cys536Gly	rs245920476	missense variant	-	NC_000082.6:g.94125524T>G	UniProt
Sim2	Q61079	p.Ala569Thr	rs234912712	missense variant	-	NC_000082.6:g.94125623G>A	UniProt
Sim2	Q61079	p.Pro592Thr	rs263282442	missense variant	-	NC_000082.6:g.94125692C>A	UniProt
Fzd6	Q61089	p.Glu122Asp	rs237135490	missense variant	-	NC_000081.6:g.39025854A>C	UniProt
Fzd6	Q61089	p.Ala545Thr	rs222402918	missense variant	-	NC_000081.6:g.39034899G>A	UniProt
Fzd6	Q61089	p.Ser618Pro	rs50388052	missense variant	-	NC_000081.6:g.39035118T>C	UniProt
Fzd6	Q61089	p.Asn628Asp	rs48579948	missense variant	-	NC_000081.6:g.39035148A>G	UniProt
Fzd6	Q61089	p.Arg629Leu	rs219010997	missense variant	-	NC_000081.6:g.39035152G>T	UniProt
Fzd6	Q61089	p.Gly648Arg	rs265374329	missense variant	-	NC_000081.6:g.39035208G>A	UniProt
Fzd6	Q61089	p.Ser651Gly	rs230334695	missense variant	-	NC_000081.6:g.39035217A>G	UniProt
Fzd6	Q61089	p.Ser660Ile	rs241562454	missense variant	-	NC_000081.6:g.39036403G>T	UniProt
Fzd6	Q61089	p.Thr664Ser	rs253139749	missense variant	-	NC_000081.6:g.39036415C>G	UniProt
Fzd6	Q61089	p.Thr681Pro	rs223703710	missense variant	-	NC_000081.6:g.39036465A>C	UniProt
Fzd6	Q61089	p.Gly685Asp	rs1132165252	missense variant	-	NC_000081.6:g.39036478G>A	UniProt
Fzd6	Q61089	p.Glu122Asp	rs237135490	missense variant	-	NC_000081.6:g.39025854A>C	UniProt
Fzd6	Q61089	p.Ala545Thr	rs222402918	missense variant	-	NC_000081.6:g.39034899G>A	UniProt
Fzd6	Q61089	p.Ser618Pro	rs50388052	missense variant	-	NC_000081.6:g.39035118T>C	UniProt
Fzd6	Q61089	p.Asn628Asp	rs48579948	missense variant	-	NC_000081.6:g.39035148A>G	UniProt
Fzd6	Q61089	p.Arg629Leu	rs219010997	missense variant	-	NC_000081.6:g.39035152G>T	UniProt
Fzd6	Q61089	p.Gly648Arg	rs265374329	missense variant	-	NC_000081.6:g.39035208G>A	UniProt
Fzd6	Q61089	p.Ser651Gly	rs230334695	missense variant	-	NC_000081.6:g.39035217A>G	UniProt
Fzd6	Q61089	p.Ser660Ile	rs241562454	missense variant	-	NC_000081.6:g.39036403G>T	UniProt
Fzd6	Q61089	p.Thr664Ser	rs253139749	missense variant	-	NC_000081.6:g.39036415C>G	UniProt
Fzd6	Q61089	p.Thr681Pro	rs223703710	missense variant	-	NC_000081.6:g.39036465A>C	UniProt
Fzd6	Q61089	p.Gly685Asp	rs1132165252	missense variant	-	NC_000081.6:g.39036478G>A	UniProt
Fzd7	Q61090	p.Arg556Cys	rs1134687216	missense variant	-	NC_000067.6:g.59484625C>T	UniProt
Ptch1	Q61115	p.Gln131Glu	rs254395942	missense variant	-	NC_000079.6:g.63548147G>C	UniProt
Ptch1	Q61115	p.Asn814Ser	rs51816556	missense variant	-	NC_000079.6:g.63532614T>C	UniProt
Ptch1	Q61115	p.His930Pro	rs265667150	missense variant	-	NC_000079.6:g.63525001T>G	UniProt
Ptch1	Q61115	p.Ala1233Thr	rs228723531	missense variant	-	NC_000079.6:g.63513626C>T	UniProt
Ptch1	Q61115	p.Pro1264Leu	rs244883163	missense variant	-	NC_000079.6:g.63512047G>A	UniProt
Ptch1	Q61115	p.Thr1267Asn	rs46960049	missense variant	-	NC_000079.6:g.63512038G>T	UniProt
Ptch1	Q61115	p.Asp1275Glu	rs239668604	missense variant	-	NC_000079.6:g.63512013G>T	UniProt
Ptch1	Q61115	p.Pro1292Ser	rs225556581	missense variant	-	NC_000079.6:g.63511964G>A	UniProt
Ptch1	Q61115	p.Thr1339Met	rs49370129	missense variant	-	NC_000079.6:g.63511822G>A	UniProt
Col11a1	Q61245	p.Thr57Lys	rs38649737	missense variant	-	NC_000069.6:g.114055661C>A	UniProt
Col11a1	Q61245	p.Asp68Ala	rs37154697	missense variant	-	NC_000069.6:g.114055694A>C	UniProt
Col11a1	Q61245	p.Leu370His	rs218382347	missense variant	-	NC_000069.6:g.114097124T>A	UniProt
Col11a1	Q61245	p.Leu370Val	rs6245083	missense variant	-	NC_000069.6:g.114097123C>G	UniProt
Col11a1	Q61245	p.Gly501Ser	rs237659960	missense variant	-	NC_000069.6:g.114102553G>A	UniProt
Col11a1	Q61245	p.Gly767Ala	rs1132993843	missense variant	-	NC_000069.6:g.114124318G>C	UniProt
Col11a1	Q61245	p.Gly770Ser	rs1134987041	missense variant	-	NC_000069.6:g.114124326G>A	UniProt
Col11a1	Q61245	p.Gly776Asp	rs1131820710	missense variant	-	NC_000069.6:g.114124345G>A	UniProt
Acan	Q61282	p.Phe459Ser	rs4226711	missense variant	-	NC_000073.6:g.79091263T>C	UniProt
Acan	Q61282	p.Arg482His	rs4226710	missense variant	-	NC_000073.6:g.79091332G>A	UniProt
Acan	Q61282	p.His511Tyr	rs217178391	missense variant	-	NC_000073.6:g.79092387C>T	UniProt
Acan	Q61282	p.Val515Ile	rs36705409	missense variant	-	NC_000073.6:g.79092399G>A	UniProt
Acan	Q61282	p.Glu596Lys	rs230646548	missense variant	-	NC_000073.6:g.79094008G>A	UniProt
Acan	Q61282	p.Ala608Val	rs37808189	missense variant	-	NC_000073.6:g.79094045C>T	UniProt
Acan	Q61282	p.Gly696Glu	rs32109202	missense variant	-	NC_000073.6:g.79096700G>A	UniProt
Acan	Q61282	p.Ser698Arg	rs262365125	missense variant	-	NC_000073.6:g.79096707T>A	UniProt
Acan	Q61282	p.Lys726Glu	rs224198134	missense variant	-	NC_000073.6:g.79096789A>G	UniProt
Acan	Q61282	p.Ser777Pro	rs235963006	missense variant	-	NC_000073.6:g.79097811T>C	UniProt
Acan	Q61282	p.His882Arg	rs263333162	missense variant	-	NC_000073.6:g.79098127A>G	UniProt
Acan	Q61282	p.Glu897Lys	rs248399811	missense variant	-	NC_000073.6:g.79098171G>A	UniProt
Acan	Q61282	p.Asp907Asn	rs261577372	missense variant	-	NC_000073.6:g.79098201G>A	UniProt
Acan	Q61282	p.Gly1105Glu	rs224543094	missense variant	-	NC_000073.6:g.79098796G>A	UniProt
Acan	Q61282	p.Glu1135Asp	rs37527706	missense variant	-	NC_000073.6:g.79098887G>C	UniProt
Acan	Q61282	p.Thr1139Ile	rs243220994	missense variant	-	NC_000073.6:g.79098898C>T	UniProt
Acan	Q61282	p.Pro1149Leu	rs36710345	missense variant	-	NC_000073.6:g.79098928C>T	UniProt
Acan	Q61282	p.Thr1151Ala	rs255978889	missense variant	-	NC_000073.6:g.79098933A>G	UniProt
Acan	Q61282	p.Val1178Gly	rs215585746	missense variant	-	NC_000073.6:g.79099015T>G	UniProt
Acan	Q61282	p.Val1241Ala	rs32400885	missense variant	-	NC_000073.6:g.79099204T>C	UniProt
Acan	Q61282	p.Asn1242Ser	rs31327907	missense variant	-	NC_000073.6:g.79099207A>G	UniProt
Acan	Q61282	p.Ile1257Thr	rs229931309	missense variant	-	NC_000073.6:g.79099252T>C	UniProt
Acan	Q61282	p.Ser1308Thr	rs37180682	missense variant	-	NC_000073.6:g.79099404T>A	UniProt
Acan	Q61282	p.Ala1323Val	rs37664302	missense variant	-	NC_000073.6:g.79099450C>T	UniProt
Acan	Q61282	p.Ser1344Ile	rs32439390	missense variant	-	NC_000073.6:g.79099513G>T	UniProt
Acan	Q61282	p.Ser1345Arg	rs38835844	missense variant	-	NC_000073.6:g.79099517T>A	UniProt
Acan	Q61282	p.Asp1353Tyr	rs261453014	missense variant	-	NC_000073.6:g.79099539G>T	UniProt
Acan	Q61282	p.Val1364Ile	rs224576375	missense variant	-	NC_000073.6:g.79099572G>A	UniProt
Acan	Q61282	p.Glu1367Gly	rs238445469	missense variant	-	NC_000073.6:g.79099582A>G	UniProt
Acan	Q61282	p.Thr1391Ser	rs261793823	missense variant	-	NC_000073.6:g.79099653A>T	UniProt
Acan	Q61282	p.Glu1514Gly	rs32085027	missense variant	-	NC_000073.6:g.79100023A>G	UniProt
Acan	Q61282	p.Ala1559Val	rs46312921	missense variant	-	NC_000073.6:g.79100158C>T	UniProt
Acan	Q61282	p.Thr1632Pro	rs255575237	missense variant	-	NC_000073.6:g.79100376A>C	UniProt
Acan	Q61282	p.Gly1662Ala	rs218393036	missense variant	-	NC_000073.6:g.79100467G>C	UniProt
Acan	Q61282	p.Asn1675Ile	rs49012578	missense variant	-	NC_000073.6:g.79100506A>T	UniProt
Acan	Q61282	p.Tyr1700His	rs36891928	missense variant	-	NC_000073.6:g.79100580T>C	UniProt
Acan	Q61282	p.Arg1703Gln	rs47696513	missense variant	-	NC_000073.6:g.79100590G>A	UniProt
Acan	Q61282	p.Ala1711Thr	rs48938013	missense variant	-	NC_000073.6:g.79100613G>A	UniProt
Acan	Q61282	p.Ile1729Val	rs48571987	missense variant	-	NC_000073.6:g.79100667A>G	UniProt
Acan	Q61282	p.Gln1795Pro	rs223364862	missense variant	-	NC_000073.6:g.79100866A>C	UniProt
Acan	Q61282	p.Asp1816Asn	rs45904480	missense variant	-	NC_000073.6:g.79100928G>A	UniProt
Acan	Q61282	p.Asn1850Tyr	rs36349467	missense variant	-	NC_000073.6:g.79101030A>T	UniProt
Acan	Q61282	p.Tyr1868His	rs36376581	missense variant	-	NC_000073.6:g.79101084T>C	UniProt
Acan	Q61282	p.His1938Pro	rs32310727	missense variant	-	NC_000073.6:g.79111354A>C	UniProt
Acan	Q61282	p.Arg1949Gln	rs265865197	missense variant	-	NC_000073.6:g.79111387G>A	UniProt
Acan	Q61282	p.Val2074Met	rs1135266723	missense variant	-	NC_000073.6:g.79113735G>A	UniProt
Acan	Q61282	p.Glu2100Asp	rs261187312	missense variant	-	NC_000073.6:g.79113815G>T	UniProt
Acan	Q61282	p.Arg2102Gln	rs38286487	missense variant	-	NC_000073.6:g.79113820G>A	UniProt
Tfap2b	Q61313	p.Met222Ile	rs228889726	missense variant	-	NC_000067.6:g.19226500G>A	UniProt
Six4	Q61321	p.Leu85Phe	rs222757816	missense variant	-	NC_000078.6:g.73112932G>A	UniProt
Six4	Q61321	p.Ala93Thr	rs262523903	missense variant	-	NC_000078.6:g.73112908C>T	UniProt
Six4	Q61321	p.Ser319Gly	rs241765780	missense variant	-	NC_000078.6:g.73109237T>C	UniProt
Glg1	Q61543	p.Pro37Thr	rs237753664	missense variant	-	NC_000074.6:g.111259088G>T	UniProt
Glg1	Q61543	p.Thr39Ala	rs214443945	missense variant	-	NC_000074.6:g.111259082T>C	UniProt
Glg1	Q61543	p.Phe41Ser	rs256848640	missense variant	-	NC_000074.6:g.111259075A>G	UniProt
Glg1	Q61543	p.Ser52Asn	rs31298329	missense variant	-	NC_000074.6:g.111259042C>T	UniProt
Glg1	Q61543	p.Tyr158Cys	rs46070765	missense variant	-	NC_000074.6:g.111200209T>C	UniProt
Glg1	Q61543	p.Asp566His	rs1133354734	missense variant	-	NC_000074.6:g.111178952C>G	UniProt
Glg1	Q61543	p.Arg569His	rs1134859713	missense variant	-	NC_000074.6:g.111178942C>T	UniProt
Glg1	Q61543	p.Cys571Tyr	rs1133205775	missense variant	-	NC_000074.6:g.111178936C>T	UniProt
Gli3	Q61602	p.Asp1090Glu	rs51374610	missense variant	-	NC_000079.6:g.15725299C>A	UniProt
Gli3	Q61602	p.Ala1132Pro	rs232857802	missense variant	-	NC_000079.6:g.15725423G>C	UniProt
Gli3	Q61602	p.Thr1169Ser	rs259084035	missense variant	-	NC_000079.6:g.15725535C>G	UniProt
Gli3	Q61602	p.Ala1186Val	rs240078221	missense variant	-	NC_000079.6:g.15725586C>T	UniProt
Gli3	Q61602	p.Thr1210Ala	rs260666114	missense variant	-	NC_000079.6:g.15725657A>G	UniProt
Gli3	Q61602	p.Thr1277Ala	rs46003777	missense variant	-	NC_000079.6:g.15725858A>G	UniProt
Gli3	Q61602	p.Asn1310Asp	rs241645232	missense variant	-	NC_000079.6:g.15725957A>G	UniProt
Gli3	Q61602	p.Met1315Ile	rs264055887	missense variant	-	NC_000079.6:g.15725974G>A	UniProt
Gli3	Q61602	p.Ile1326Val	rs46711506	missense variant	-	NC_000079.6:g.15726005A>G	UniProt
Gli3	Q61602	p.Gln1361Glu	rs51654662	missense variant	-	NC_000079.6:g.15726110C>G	UniProt
Gli3	Q61602	p.Gly1430Ser	rs225520006	missense variant	-	NC_000079.6:g.15726317G>A	UniProt
Gli3	Q61602	p.Gly1486Ser	rs226816642	missense variant	-	NC_000079.6:g.15726485G>A	UniProt
Gli3	Q61602	p.Gln1532His	rs217978647	missense variant	-	NC_000079.6:g.15726625G>C	UniProt
Ednra	Q61614	p.Ala7Ser	rs215870888	missense variant	-	NC_000074.6:g.77720429C>A	UniProt
Ednra	Q61614	p.Val18Ile	rs247911092	missense variant	-	NC_000074.6:g.77720396C>T	UniProt
Ednra	Q61614	p.Met19Ile	rs236259723	missense variant	-	NC_000074.6:g.77720391C>G	UniProt
Ednra	Q61614	p.Ile45Val	rs217634147	missense variant	-	NC_000074.6:g.77720315T>C	UniProt
Ednra	Q61614	p.Thr100Ala	rs50537063	missense variant	-	NC_000074.6:g.77720150T>C	UniProt
Has1	Q61647	p.Pro6Ser	rs16783671	missense variant	-	NC_000083.6:g.17850642G>A	UniProt
Has1	Q61647	p.Ala40Thr	rs16783666	missense variant	-	NC_000083.6:g.17850540C>T	UniProt
Has1	Q61647	p.Arg49Ser	rs16783665	missense variant	-	NC_000083.6:g.17850513G>T	UniProt
Has1	Q61647	p.Ala89Val	rs1134356182	missense variant	-	NC_000083.6:g.17850392G>A	UniProt
Has1	Q61647	p.His129Arg	rs16783664	missense variant	-	NC_000083.6:g.17850272T>C	UniProt
Has1	Q61647	p.Thr180Ala	rs16783662	missense variant	-	NC_000083.6:g.17850120T>C	UniProt
Has1	Q61647	p.Val461Leu	rs16798561	missense variant	-	NC_000083.6:g.17843995C>G	UniProt
Foxc2	Q61850	p.His181Gln	rs251513804	missense variant	-	NC_000074.6:g.121117157C>G	UniProt
Foxc2	Q61850	p.Ser187Pro	rs223230516	missense variant	-	NC_000074.6:g.121117173T>C	UniProt
Foxc2	Q61850	p.Ser244Ala	rs225930210	missense variant	-	NC_000074.6:g.121117344T>G	UniProt
Foxc2	Q61850	p.Thr313Ala	rs217864871	missense variant	-	NC_000074.6:g.121117551A>G	UniProt
Foxc2	Q61850	p.Ala341Thr	rs240094305	missense variant	-	NC_000074.6:g.121117635G>A	UniProt
Myh10	Q61879	p.Asp56Asn	rs234936568	missense variant	-	NC_000077.6:g.68699406G>A	UniProt
Myh10	Q61879	p.Asn717Ser	rs1132918352	missense variant	-	NC_000077.6:g.68783474A>G	UniProt
Myh10	Q61879	p.Tyr800His	rs26922132	missense variant	-	NC_000077.6:g.68785343T>C	UniProt
Myh10	Q61879	p.Gly1062Val	rs1133396825	missense variant	-	NC_000077.6:g.68791926G>T	UniProt
Myh10	Q61879	p.Gly1312Ser	rs264865787	missense variant	-	NC_000077.6:g.68800890G>A	UniProt
Myh10	Q61879	p.Glu1326Ala	rs26922091	missense variant	-	NC_000077.6:g.68801590A>C	UniProt
Myh10	Q61879	p.Met1654Val	rs217147875	missense variant	-	NC_000077.6:g.68808799A>G	UniProt
Myh10	Q61879	p.Arg1944His	rs224224368	missense variant	-	NC_000077.6:g.68814971G>A	UniProt
Pemt	Q61907	p.Met8Val	rs26941656	missense variant	-	NC_000077.6:g.60031784T>C	UniProt
Pemt	Q61907	p.His50Tyr	rs257975048	missense variant	-	NC_000077.6:g.59983504G>A	UniProt
Pemt	Q61907	p.Ile58Ser	rs240206037	missense variant	-	NC_000077.6:g.59983479A>C	UniProt
Pemt	Q61907	p.Cys59Ser	rs221524150	missense variant	-	NC_000077.6:g.59983477A>T	UniProt
Pemt	Q61907	p.Gln190Lys	rs4228782	missense variant	-	NC_000077.6:g.59970850G>T	UniProt
Pemt	Q61907	p.Met8Val	rs26941656	missense variant	-	NC_000077.6:g.60031784T>C	UniProt
Pemt	Q61907	p.His50Tyr	rs257975048	missense variant	-	NC_000077.6:g.59983504G>A	UniProt
Pemt	Q61907	p.Ile58Ser	rs240206037	missense variant	-	NC_000077.6:g.59983479A>C	UniProt
Pemt	Q61907	p.Cys59Ser	rs221524150	missense variant	-	NC_000077.6:g.59983477A>T	UniProt
Pemt	Q61907	p.Gln190Lys	rs4228782	missense variant	-	NC_000077.6:g.59970850G>T	UniProt
Oca2	Q62052	p.Ala42Ser	rs253169328	missense variant	-	NC_000073.6:g.56254911G>T	UniProt
Oca2	Q62052	p.Val66Leu	rs216107637	missense variant	-	NC_000073.6:g.56254983G>C	UniProt
Oca2	Q62052	p.Thr72Ile	rs236884046	missense variant	-	NC_000073.6:g.56255002C>T	UniProt
Oca2	Q62052	p.Ala141Thr	rs221964848	missense variant	-	NC_000073.6:g.56280857G>A	UniProt
Oca2	Q62052	p.Ala256Val	rs32980940	missense variant	-	NC_000073.6:g.56293847C>T	UniProt
Oca2	Q62052	p.Arg262Ter	rs32980941	stop gained	-	NC_000073.6:g.56293864C>T	UniProt
Oca2	Q62052	p.Leu266Ile	rs31110637	missense variant	-	NC_000073.6:g.56295441C>A	UniProt
Oca2	Q62052	p.Leu266Val	rs31110637	missense variant	-	NC_000073.6:g.56295441C>G	UniProt
Oca2	Q62052	p.Ser278Asn	rs252818061	missense variant	-	NC_000073.6:g.56295478G>A	UniProt
Oca2	Q62052	p.Val283Met	rs32976440	missense variant	-	NC_000073.6:g.56295492G>A	UniProt
Oca2	Q62052	p.Ser296Phe	rs32978229	missense variant	-	NC_000073.6:g.56297111C>T	UniProt
Oca2	Q62052	p.Ala501Thr	rs236815456	missense variant	-	NC_000073.6:g.56327266G>A	UniProt
Oca2	Q62052	p.Val710Ile	rs230238354	missense variant	-	NC_000073.6:g.56414386G>A	UniProt
Oca2	Q62052	p.Met764Ile	rs212916206	missense variant	-	NC_000073.6:g.56423350G>A	UniProt
Oca2	Q62052	p.Lys794Gln	rs31090430	missense variant	-	NC_000073.6:g.56429368A>C	UniProt
Oca2	Q62052	p.Pro810Ser	rs32985344	missense variant	-	NC_000073.6:g.56535955C>T	UniProt
Oca2	Q62052	p.Val811Met	rs32985345	missense variant	-	NC_000073.6:g.56535958G>A	UniProt
Map3k7	Q62073	p.Gln425Leu	rs27730468	missense variant	-	NC_000070.6:g.32002152A>T	UniProt
Shh	Q62226	p.Gly282Glu	rs221886881	missense variant	-	NC_000071.6:g.28458324C>T	UniProt
Shh	Q62226	p.Ala401Ser	rs239951257	missense variant	-	NC_000071.6:g.28457968C>A	UniProt
Shh	Q62226	p.Ala401Val	rs216598691	missense variant	-	NC_000071.6:g.28457967G>A	UniProt
Sos1	Q62245	p.His352Gln	rs864299442	missense variant	-	NC_000083.6:g.80445448A>T	UniProt
Sos1	Q62245	p.Lys370Ter	rs1134521164	stop gained	-	NC_000083.6:g.80434989T>A	UniProt
Sos1	Q62245	p.Ile377Val	rs1133394635	missense variant	-	NC_000083.6:g.80434968T>C	UniProt
Sos1	Q62245	p.Asn382Ile	rs1134692085	missense variant	-	NC_000083.6:g.80434952T>A	UniProt
Sos1	Q62245	p.Ser485Thr	rs221516702	missense variant	-	NC_000083.6:g.80433901C>G	UniProt
Sos1	Q62245	p.Gln566His	rs260206898	missense variant	-	NC_000083.6:g.80433657C>G	UniProt
Sos1	Q62245	p.His1020Pro	rs249950894	missense variant	-	NC_000083.6:g.80408268T>G	UniProt
Sos1	Q62245	p.Pro1136Ala	rs864269837	missense variant	-	NC_000083.6:g.80399803G>C	UniProt
Tgfbr2	Q62312	p.Asn58Thr	rs51509562	missense variant	-	NC_000075.6:g.116131710T>G	UniProt
Smad2	Q62432	p.Arg321Leu	rs1135120269	missense variant	-	NC_000084.6:g.76299960G>T	UniProt
Smad2	Q62432	p.Arg321Leu	rs1135120269	missense variant	-	NC_000084.6:g.76299960G>T	UniProt
Mapk3	Q63844	p.Phe77Leu	rs1134896630	missense variant	-	NC_000073.6:g.126760786T>C	UniProt
Nuak1	Q641K5	p.His54Arg	rs1132631133	missense variant	-	NC_000076.6:g.84440197T>C	UniProt
Nuak1	Q641K5	p.Arg405Trp	rs232602838	missense variant	-	NC_000076.6:g.84375010G>A	UniProt
Nuak1	Q641K5	p.Ser408Gly	rs864304049	missense variant	-	NC_000076.6:g.84375001T>C	UniProt
Nuak1	Q641K5	p.Ser488Pro	rs864274261	missense variant	-	NC_000076.6:g.84374761A>G	UniProt
Nuak1	Q641K5	p.Pro507Ser	rs232902575	missense variant	-	NC_000076.6:g.84374704G>A	UniProt
Nuak1	Q641K5	p.Val578Ile	rs258687031	missense variant	-	NC_000076.6:g.84374491C>T	UniProt
Hand1	Q64279	p.Gly195Ser	rs215186192	missense variant	-	NC_000077.6:g.57829667C>T	UniProt
Hand1	Q64279	p.Gly195Ser	rs215186192	missense variant	-	NC_000077.6:g.57829667C>T	UniProt
Dlx1	Q64317	p.Ser228Asn	rs255252350	missense variant	-	NC_000068.7:g.71532433G>A	UniProt
Zeb1	Q64318	p.Leu598Gln	rs218616544	missense variant	-	NC_000084.6:g.5767283T>A	UniProt
Zeb1	Q64318	p.Glu608Asp	rs51316448	missense variant	-	NC_000084.6:g.5767314A>T	UniProt
Zeb1	Q64318	p.Gln735His	rs8254978	missense variant	-	NC_000084.6:g.5767695G>C	UniProt
Zeb1	Q64318	p.Asp758Val	rs1131743347	missense variant	-	NC_000084.6:g.5767763A>T	UniProt
Zeb1	Q64318	p.Asp758Tyr	rs1135072235	missense variant	-	NC_000084.6:g.5767762G>T	UniProt
Zeb1	Q64318	p.Val761Leu	rs1134388883	missense variant	-	NC_000084.6:g.5767771G>C	UniProt
Zeb1	Q64318	p.Val761Ala	rs1134787727	missense variant	-	NC_000084.6:g.5767772T>C	UniProt
Zeb1	Q64318	p.Pro835Ser	rs51786431	missense variant	-	NC_000084.6:g.5767993C>T	UniProt
Zeb1	Q64318	p.Ala989Thr	rs8254982	missense variant	-	NC_000084.6:g.5772677G>A	UniProt
Zeb1	Q64318	p.Asp1026Glu	rs52392139	missense variant	-	NC_000084.6:g.5772790T>G	UniProt
Zeb1	Q64318	p.Gln1033Glu	rs52136040	missense variant	-	NC_000084.6:g.5772809C>G	UniProt
Zeb1	Q64318	p.Val1082Gly	rs13483190	missense variant	-	NC_000084.6:g.5772957T>G	UniProt
Zeb1	Q64318	p.Glu1116Lys	rs50125463	missense variant	-	NC_000084.6:g.5773058G>A	UniProt
Piga	Q64323	p.Pro17Ala	rs31451363	missense variant	-	NC_000086.7:g.164422694C>G	UniProt
Piga	Q64323	p.Asp27His	rs31452086	missense variant	-	NC_000086.7:g.164422724G>C	UniProt
Piga	Q64323	p.His467Asn	rs31451923	missense variant	-	NC_000086.7:g.164431837C>A	UniProt
Piga	Q64323	p.Pro17Ala	rs31451363	missense variant	-	NC_000086.7:g.164422694C>G	UniProt
Piga	Q64323	p.Asp27His	rs31452086	missense variant	-	NC_000086.7:g.164422724G>C	UniProt
Piga	Q64323	p.His467Asn	rs31451923	missense variant	-	NC_000086.7:g.164431837C>A	UniProt
Tgfbr1	Q64729	p.Ala90Glu	rs1135081942	missense variant	-	NC_000070.6:g.47383932C>A	UniProt
Tgfbr1	Q64729	p.His155Tyr	rs1134575709	missense variant	-	NC_000070.6:g.47393378C>T	UniProt
Morc2a	Q69ZX6	p.Ser637Thr	rs258989344	missense variant	-	NC_000077.6:g.3683799G>C	UniProt
Morc2a	Q69ZX6	p.Ser637Thr	rs258989344	missense variant	-	NC_000077.6:g.3683799G>C	UniProt
Wls	Q6DID7	p.Glu7Gln	rs13463641	missense variant	-	NC_000069.6:g.159839960G>C	UniProt
Wls	Q6DID7	p.Ala64Val	rs224985917	missense variant	-	NC_000069.6:g.159872993C>T	UniProt
Wls	Q6DID7	p.Pro68Ser	rs247683314	missense variant	-	NC_000069.6:g.159873004C>T	UniProt
Wls	Q6DID7	p.Ala191Gly	rs13463643	missense variant	-	NC_000069.6:g.159901449C>G	UniProt
Wls	Q6DID7	p.Glu7Gln	rs13463641	missense variant	-	NC_000069.6:g.159839960G>C	UniProt
Wls	Q6DID7	p.Ala64Val	rs224985917	missense variant	-	NC_000069.6:g.159872993C>T	UniProt
Wls	Q6DID7	p.Pro68Ser	rs247683314	missense variant	-	NC_000069.6:g.159873004C>T	UniProt
Wls	Q6DID7	p.Ala191Gly	rs13463643	missense variant	-	NC_000069.6:g.159901449C>G	UniProt
Rad54b	Q6PFE3	p.Gln220Lys	rs213582009	missense variant	-	NC_000070.6:g.11595882C>A	UniProt
Rad54b	Q6PFE3	p.Lys224Asn	rs233487305	missense variant	-	NC_000070.6:g.11595896A>C	UniProt
Rad54b	Q6PFE3	p.Arg252Trp	rs264428509	missense variant	-	NC_000070.6:g.11597870C>T	UniProt
Rad54b	Q6PFE3	p.Asn346Asp	rs27732338	missense variant	-	NC_000070.6:g.11599833A>G	UniProt
Rad54b	Q6PFE3	p.Val366Ala	rs27732337	missense variant	-	NC_000070.6:g.11599894T>C	UniProt
Rad54b	Q6PFE3	p.Thr433Arg	rs27732324	missense variant	-	NC_000070.6:g.11601744C>G	UniProt
Rad54b	Q6PFE3	p.Ile476Met	rs27732306	missense variant	-	NC_000070.6:g.11604981A>G	UniProt
Rad54b	Q6PFE3	p.Arg542Cys	rs222629540	missense variant	-	NC_000070.6:g.11606217C>T	UniProt
Rad54b	Q6PFE3	p.Phe577Leu	rs27732300	missense variant	-	NC_000070.6:g.11606322T>C	UniProt
Rad54b	Q6PFE3	p.Gln599Glu	rs216118015	missense variant	-	NC_000070.6:g.11609345C>G	UniProt
Rad54b	Q6PFE3	p.Glu617Lys	rs235101642	missense variant	-	NC_000070.6:g.11609399G>A	UniProt
Rad54b	Q6PFE3	p.Gly814Asp	rs247703123	missense variant	-	NC_000070.6:g.11612810G>A	UniProt
Rad54b	Q6PFE3	p.Val824Gly	rs230499175	missense variant	-	NC_000070.6:g.11615464T>G	UniProt
Rad54b	Q6PFE3	p.Val824Ile	rs262917242	missense variant	-	NC_000070.6:g.11615463G>A	UniProt
Rad54b	Q6PFE3	p.Phe831Leu	rs27732257	missense variant	-	NC_000070.6:g.11615484T>C	UniProt
Rad54b	Q6PFE3	p.Ala838Ser	rs215672865	missense variant	-	NC_000070.6:g.11615505G>T	UniProt
Cramp1	Q6PG95	p.Ala127Val	rs3155785	missense variant	-	NC_000083.6:g.25003363G>A	UniProt
Cramp1	Q6PG95	p.Ile436Thr	rs3155731	missense variant	-	NC_000083.6:g.24983200A>G	UniProt
Cramp1	Q6PG95	p.Ala493Gly	rs234762097	missense variant	-	NC_000083.6:g.24983029G>C	UniProt
Cramp1	Q6PG95	p.Arg578His	rs225655354	missense variant	-	NC_000083.6:g.24982774C>T	UniProt
Cramp1	Q6PG95	p.Arg579Cys	rs258174357	missense variant	-	NC_000083.6:g.24982772G>A	UniProt
Cramp1	Q6PG95	p.Arg579His	rs33615888	missense variant	-	NC_000083.6:g.24982771C>T	UniProt
Cramp1	Q6PG95	p.Arg583Gln	rs224951033	missense variant	-	NC_000083.6:g.24982759C>T	UniProt
Cramp1	Q6PG95	p.Ser593Arg	rs248396957	missense variant	-	NC_000083.6:g.24982728G>C	UniProt
Cramp1	Q6PG95	p.Thr601Ile	rs218138438	missense variant	-	NC_000083.6:g.24982705G>A	UniProt
Cramp1	Q6PG95	p.Gly605Arg	rs249082883	missense variant	-	NC_000083.6:g.24982694C>T	UniProt
Cramp1	Q6PG95	p.Ala606Glu	rs231533590	missense variant	-	NC_000083.6:g.24982690G>T	UniProt
Cramp1	Q6PG95	p.Ala608Val	rs3155729	missense variant	-	NC_000083.6:g.24982684G>A	UniProt
Cramp1	Q6PG95	p.Gly650Asp	rs3155728	missense variant	-	NC_000083.6:g.24982558C>T	UniProt
Cramp1	Q6PG95	p.Pro1053Ser	rs252252289	missense variant	-	NC_000083.6:g.24971602G>A	UniProt
Cramp1	Q6PG95	p.Ala1054Val	rs233067121	missense variant	-	NC_000083.6:g.24971598G>A	UniProt
Cramp1	Q6PG95	p.Ala1174Thr	rs3153785	missense variant	-	NC_000083.6:g.24970442C>T	UniProt
Cramp1	Q6PG95	p.Arg1266His	rs864281300	missense variant	-	NC_000083.6:g.24964843C>T	UniProt
Cramp1	Q6PG95	p.Ala127Val	rs3155785	missense variant	-	NC_000083.6:g.25003363G>A	UniProt
Cramp1	Q6PG95	p.Ile436Thr	rs3155731	missense variant	-	NC_000083.6:g.24983200A>G	UniProt
Cramp1	Q6PG95	p.Ala493Gly	rs234762097	missense variant	-	NC_000083.6:g.24983029G>C	UniProt
Cramp1	Q6PG95	p.Arg578His	rs225655354	missense variant	-	NC_000083.6:g.24982774C>T	UniProt
Cramp1	Q6PG95	p.Arg579His	rs33615888	missense variant	-	NC_000083.6:g.24982771C>T	UniProt
Cramp1	Q6PG95	p.Arg579Cys	rs258174357	missense variant	-	NC_000083.6:g.24982772G>A	UniProt
Cramp1	Q6PG95	p.Arg583Gln	rs224951033	missense variant	-	NC_000083.6:g.24982759C>T	UniProt
Cramp1	Q6PG95	p.Ser593Arg	rs248396957	missense variant	-	NC_000083.6:g.24982728G>C	UniProt
Cramp1	Q6PG95	p.Thr601Ile	rs218138438	missense variant	-	NC_000083.6:g.24982705G>A	UniProt
Cramp1	Q6PG95	p.Gly605Arg	rs249082883	missense variant	-	NC_000083.6:g.24982694C>T	UniProt
Cramp1	Q6PG95	p.Ala606Glu	rs231533590	missense variant	-	NC_000083.6:g.24982690G>T	UniProt
Cramp1	Q6PG95	p.Ala608Val	rs3155729	missense variant	-	NC_000083.6:g.24982684G>A	UniProt
Cramp1	Q6PG95	p.Gly650Asp	rs3155728	missense variant	-	NC_000083.6:g.24982558C>T	UniProt
Cramp1	Q6PG95	p.Pro1053Ser	rs252252289	missense variant	-	NC_000083.6:g.24971602G>A	UniProt
Cramp1	Q6PG95	p.Ala1054Val	rs233067121	missense variant	-	NC_000083.6:g.24971598G>A	UniProt
Cramp1	Q6PG95	p.Ala1174Thr	rs3153785	missense variant	-	NC_000083.6:g.24970442C>T	UniProt
Cramp1	Q6PG95	p.Arg1266His	rs864281300	missense variant	-	NC_000083.6:g.24964843C>T	UniProt
Timp2	Q6PI17	p.Thr19Ser	rs13464009	missense variant	-	NC_000077.6:g.118355036T>A	UniProt
Ift172	Q6VH22	p.Phe659Tyr	rs32428384	missense variant	-	NC_000071.6:g.31267641A>T	UniProt
Ift172	Q6VH22	p.Arg672Lys	rs260114014	missense variant	-	NC_000071.6:g.31267602C>T	UniProt
Ift172	Q6VH22	p.Phe1137Leu	rs213562167	missense variant	-	NC_000071.6:g.31261887A>G	UniProt
Ift172	Q6VH22	p.Ala1141Thr	rs248285849	missense variant	-	NC_000071.6:g.31261875C>T	UniProt
Ift172	Q6VH22	p.Tyr1148His	rs229546418	missense variant	-	NC_000071.6:g.31261854A>G	UniProt
Ift172	Q6VH22	p.Ala1546Val	rs1133946037	missense variant	-	NC_000071.6:g.31255273G>A	UniProt
Kifbp	Q6ZPU9	p.Ala4Thr	rs235625046	missense variant	-	NC_000076.6:g.62578368C>T	UniProt
Kifbp	Q6ZPU9	p.Gly72Ala	rs227146507	missense variant	-	NC_000076.6:g.62578163C>G	UniProt
Kifbp	Q6ZPU9	p.Pro283Thr	rs225312117	missense variant	-	NC_000076.6:g.62566052G>T	UniProt
Tm7sf2	Q71KT5	p.Phe203Cys	rs249644690	missense variant	-	NC_000085.6:g.6064194A>C	UniProt
Tm7sf2	Q71KT5	p.Val298Ala	rs13483509	missense variant	-	NC_000085.6:g.6063607A>G	UniProt
Tm7sf2	Q71KT5	p.His369Tyr	rs214452229	missense variant	-	NC_000085.6:g.6063065G>A	UniProt
Tm7sf2	Q71KT5	p.Ala401Ser	rs216932439	missense variant	-	NC_000085.6:g.6062969C>A	UniProt
Haao	Q78JT3	p.Glu2Asp	rs234856061	missense variant	-	NC_000083.6:g.83846711T>A	UniProt
Haao	Q78JT3	p.Gly259Arg	rs231496917	missense variant	-	NC_000083.6:g.83831834C>T	UniProt
Sox11	Q7M6Y2	p.Ala177Gly	rs8255798	missense variant	-	NC_000078.6:g.27341879G>C	UniProt
Fbxo11	Q7TPD1	p.Tyr257Cys	rs48617284	missense variant	-	NC_000083.6:g.88011333T>C	UniProt
Fbxo11	Q7TPD1	p.Leu270Ser	rs1135059296	missense variant	-	NC_000083.6:g.88011294A>G	UniProt
Pigv	Q7TPN3	p.Pro48His	rs226344367	missense variant	-	NC_000070.6:g.133665715G>T	UniProt
Pigv	Q7TPN3	p.Val117Ile	rs257565648	missense variant	-	NC_000070.6:g.133665509C>T	UniProt
Pigv	Q7TPN3	p.His349Arg	rs864288232	missense variant	-	NC_000070.6:g.133664812T>C	UniProt
Pigv	Q7TPN3	p.Pro367Leu	rs233107992	missense variant	-	NC_000070.6:g.133664758G>A	UniProt
Pigv	Q7TPN3	p.Ala407Gly	rs27559749	missense variant	-	NC_000070.6:g.133662772G>C	UniProt
Pigv	Q7TPN3	p.Asp423Asn	rs218812948	missense variant	-	NC_000070.6:g.133662725C>T	UniProt
Pigv	Q7TPN3	p.Gly436Arg	rs46433657	missense variant	-	NC_000070.6:g.133662686C>G	UniProt
Pigv	Q7TPN3	p.Ser443Pro	rs48658146	missense variant	-	NC_000070.6:g.133662665A>G	UniProt
Pigv	Q7TPN3	p.Met455Val	rs27559750	missense variant	-	NC_000070.6:g.133662629T>C	UniProt
Pigv	Q7TPN3	p.Asp460Asn	rs264741150	missense variant	-	NC_000070.6:g.133662614C>T	UniProt
Pigv	Q7TPN3	p.Arg463Ser	rs47444894	missense variant	-	NC_000070.6:g.133662603T>G	UniProt
Pigv	Q7TPN3	p.Val473Ile	rs264695407	missense variant	-	NC_000070.6:g.133662575C>T	UniProt
Pigv	Q7TPN3	p.Leu476Met	rs243270484	missense variant	-	NC_000070.6:g.133662566G>T	UniProt
Wfikkn2	Q7TQN3	p.Cys2Trp	rs224788267	missense variant	-	NC_000077.6:g.94242544A>C	UniProt
Wfikkn2	Q7TQN3	p.Pro184Thr	rs247087927	missense variant	-	NC_000077.6:g.94238764G>T	UniProt
Wfikkn2	Q7TQN3	p.Ala305Ser	rs33007937	missense variant	-	NC_000077.6:g.94238401C>A	UniProt
Wfikkn2	Q7TQN3	p.Ile380Thr	rs48167095	missense variant	-	NC_000077.6:g.94238175A>G	UniProt
Amer1	Q7TS75	p.Val191Gly	rs249429280	missense variant	-	NC_000086.7:g.95427939A>C	UniProt
Amer1	Q7TS75	p.Asp381Glu	rs579186756	missense variant	-	NC_000086.7:g.95427368A>T	UniProt
Amer1	Q7TS75	p.Glu406Asp	rs581915616	missense variant	-	NC_000086.7:g.95427293T>G	UniProt
Amer1	Q7TS75	p.Ser452Asn	rs254950902	missense variant	-	NC_000086.7:g.95427156C>T	UniProt
Amer1	Q7TS75	p.Glu611Asp	rs259682889	missense variant	-	NC_000086.7:g.95426678T>A	UniProt
Amer1	Q7TS75	p.Thr617Ala	rs238498259	missense variant	-	NC_000086.7:g.95426662T>C	UniProt
Amer1	Q7TS75	p.Leu1052Pro	rs29084617	missense variant	-	NC_000086.7:g.95425356A>G	UniProt
Amer1	Q7TS75	p.Glu1057Asp	rs31860334	missense variant	-	NC_000086.7:g.95425340C>A	UniProt
Ccp110	Q7TSH4	p.Gly13Ala	rs260398552	missense variant	-	NC_000073.6:g.118715411G>C	UniProt
Ccp110	Q7TSH4	p.Gly23Asp	rs223581886	missense variant	-	NC_000073.6:g.118715441G>A	UniProt
Ccp110	Q7TSH4	p.Val119Ile	rs223210825	missense variant	-	NC_000073.6:g.118721478G>A	UniProt
Ccp110	Q7TSH4	p.Arg122Thr	rs32509005	missense variant	-	NC_000073.6:g.118721488G>C	UniProt
Ccp110	Q7TSH4	p.Asn149Lys	rs265740163	missense variant	-	NC_000073.6:g.118721570T>A	UniProt
Ccp110	Q7TSH4	p.Arg180Lys	rs32509008	missense variant	-	NC_000073.6:g.118721662G>A	UniProt
Ccp110	Q7TSH4	p.Ile199Val	rs46815339	missense variant	-	NC_000073.6:g.118721718A>G	UniProt
Ccp110	Q7TSH4	p.Gly205Arg	rs582667130	missense variant	-	NC_000073.6:g.118721736G>A	UniProt
Ccp110	Q7TSH4	p.Pro211Ser	rs224272639	missense variant	-	NC_000073.6:g.118721754C>T	UniProt
Ccp110	Q7TSH4	p.Ser245Gly	rs255217131	missense variant	-	NC_000073.6:g.118721856A>G	UniProt
Ccp110	Q7TSH4	p.Asn248Ser	rs32509011	missense variant	-	NC_000073.6:g.118721866A>G	UniProt
Ccp110	Q7TSH4	p.Asn263Lys	rs239962751	missense variant	-	NC_000073.6:g.118721912C>G	UniProt
Ccp110	Q7TSH4	p.Ile281Thr	rs236141492	missense variant	-	NC_000073.6:g.118721965T>C	UniProt
Ccp110	Q7TSH4	p.Ala326Val	rs46254881	missense variant	-	NC_000073.6:g.118722100C>T	UniProt
Ccp110	Q7TSH4	p.Pro331Leu	rs258139881	missense variant	-	NC_000073.6:g.118722115C>T	UniProt
Ccp110	Q7TSH4	p.Ala332Thr	rs46349406	missense variant	-	NC_000073.6:g.118722117G>A	UniProt
Ccp110	Q7TSH4	p.Thr372Met	rs32402866	missense variant	-	NC_000073.6:g.118722238C>T	UniProt
Ccp110	Q7TSH4	p.Lys425Glu	rs258269125	missense variant	-	NC_000073.6:g.118722396A>G	UniProt
Ccp110	Q7TSH4	p.Ser426Pro	rs228960711	missense variant	-	NC_000073.6:g.118722399T>C	UniProt
Ccp110	Q7TSH4	p.Pro427Thr	rs47367038	missense variant	-	NC_000073.6:g.118722402C>A	UniProt
Ccp110	Q7TSH4	p.Thr428Ser	rs212614067	missense variant	-	NC_000073.6:g.118722406C>G	UniProt
Ccp110	Q7TSH4	p.Ser439Pro	rs31815856	missense variant	-	NC_000073.6:g.118722438T>C	UniProt
Ccp110	Q7TSH4	p.Ser445Pro	rs32439597	missense variant	-	NC_000073.6:g.118722456T>C	UniProt
Ccp110	Q7TSH4	p.Thr448Ala	rs215507876	missense variant	-	NC_000073.6:g.118722465A>G	UniProt
Ccp110	Q7TSH4	p.Met451Val	rs32510433	missense variant	-	NC_000073.6:g.118722474A>G	UniProt
Ccp110	Q7TSH4	p.Asn469Lys	rs32511468	missense variant	-	NC_000073.6:g.118722530T>G	UniProt
Ccp110	Q7TSH4	p.Ala484Pro	rs248250185	missense variant	-	NC_000073.6:g.118722573G>C	UniProt
Ccp110	Q7TSH4	p.Ala489Thr	rs221738014	missense variant	-	NC_000073.6:g.118722588G>A	UniProt
Ccp110	Q7TSH4	p.Asp519Tyr	rs246175476	missense variant	-	NC_000073.6:g.118722678G>T	UniProt
Ccp110	Q7TSH4	p.Thr558Ser	rs262710142	missense variant	-	NC_000073.6:g.118722796C>G	UniProt
Ccp110	Q7TSH4	p.Arg614Cys	rs241220408	missense variant	-	NC_000073.6:g.118722963C>T	UniProt
Ccp110	Q7TSH4	p.Arg614His	rs32512324	missense variant	-	NC_000073.6:g.118722964G>A	UniProt
Ccp110	Q7TSH4	p.Leu616Pro	rs229220173	missense variant	-	NC_000073.6:g.118722970T>C	UniProt
Ccp110	Q7TSH4	p.Phe624Ser	rs32512327	missense variant	-	NC_000073.6:g.118722994T>C	UniProt
Ccp110	Q7TSH4	p.Gly746Ser	rs13479483	missense variant	-	NC_000073.6:g.118726035G>A	UniProt
Ccp110	Q7TSH4	p.Gly13Ala	rs260398552	missense variant	-	NC_000073.6:g.118715411G>C	UniProt
Ccp110	Q7TSH4	p.Gly23Asp	rs223581886	missense variant	-	NC_000073.6:g.118715441G>A	UniProt
Ccp110	Q7TSH4	p.Val119Ile	rs223210825	missense variant	-	NC_000073.6:g.118721478G>A	UniProt
Ccp110	Q7TSH4	p.Arg122Thr	rs32509005	missense variant	-	NC_000073.6:g.118721488G>C	UniProt
Ccp110	Q7TSH4	p.Asn149Lys	rs265740163	missense variant	-	NC_000073.6:g.118721570T>A	UniProt
Ccp110	Q7TSH4	p.Arg180Lys	rs32509008	missense variant	-	NC_000073.6:g.118721662G>A	UniProt
Ccp110	Q7TSH4	p.Ile199Val	rs46815339	missense variant	-	NC_000073.6:g.118721718A>G	UniProt
Ccp110	Q7TSH4	p.Gly205Arg	rs582667130	missense variant	-	NC_000073.6:g.118721736G>A	UniProt
Ccp110	Q7TSH4	p.Pro211Ser	rs224272639	missense variant	-	NC_000073.6:g.118721754C>T	UniProt
Ccp110	Q7TSH4	p.Ser245Gly	rs255217131	missense variant	-	NC_000073.6:g.118721856A>G	UniProt
Ccp110	Q7TSH4	p.Asn248Ser	rs32509011	missense variant	-	NC_000073.6:g.118721866A>G	UniProt
Ccp110	Q7TSH4	p.Asn263Lys	rs239962751	missense variant	-	NC_000073.6:g.118721912C>G	UniProt
Ccp110	Q7TSH4	p.Ile281Thr	rs236141492	missense variant	-	NC_000073.6:g.118721965T>C	UniProt
Ccp110	Q7TSH4	p.Ala326Val	rs46254881	missense variant	-	NC_000073.6:g.118722100C>T	UniProt
Ccp110	Q7TSH4	p.Pro331Leu	rs258139881	missense variant	-	NC_000073.6:g.118722115C>T	UniProt
Ccp110	Q7TSH4	p.Ala332Thr	rs46349406	missense variant	-	NC_000073.6:g.118722117G>A	UniProt
Ccp110	Q7TSH4	p.Thr372Met	rs32402866	missense variant	-	NC_000073.6:g.118722238C>T	UniProt
Ccp110	Q7TSH4	p.Lys425Glu	rs258269125	missense variant	-	NC_000073.6:g.118722396A>G	UniProt
Ccp110	Q7TSH4	p.Ser426Pro	rs228960711	missense variant	-	NC_000073.6:g.118722399T>C	UniProt
Ccp110	Q7TSH4	p.Pro427Thr	rs47367038	missense variant	-	NC_000073.6:g.118722402C>A	UniProt
Ccp110	Q7TSH4	p.Thr428Ser	rs212614067	missense variant	-	NC_000073.6:g.118722406C>G	UniProt
Ccp110	Q7TSH4	p.Ser439Pro	rs31815856	missense variant	-	NC_000073.6:g.118722438T>C	UniProt
Ccp110	Q7TSH4	p.Ser445Pro	rs32439597	missense variant	-	NC_000073.6:g.118722456T>C	UniProt
Ccp110	Q7TSH4	p.Thr448Ala	rs215507876	missense variant	-	NC_000073.6:g.118722465A>G	UniProt
Ccp110	Q7TSH4	p.Met451Val	rs32510433	missense variant	-	NC_000073.6:g.118722474A>G	UniProt
Ccp110	Q7TSH4	p.Asn469Lys	rs32511468	missense variant	-	NC_000073.6:g.118722530T>G	UniProt
Ccp110	Q7TSH4	p.Ala484Pro	rs248250185	missense variant	-	NC_000073.6:g.118722573G>C	UniProt
Ccp110	Q7TSH4	p.Ala489Thr	rs221738014	missense variant	-	NC_000073.6:g.118722588G>A	UniProt
Ccp110	Q7TSH4	p.Asp519Tyr	rs246175476	missense variant	-	NC_000073.6:g.118722678G>T	UniProt
Ccp110	Q7TSH4	p.Thr558Ser	rs262710142	missense variant	-	NC_000073.6:g.118722796C>G	UniProt
Ccp110	Q7TSH4	p.Arg614His	rs32512324	missense variant	-	NC_000073.6:g.118722964G>A	UniProt
Ccp110	Q7TSH4	p.Arg614Cys	rs241220408	missense variant	-	NC_000073.6:g.118722963C>T	UniProt
Ccp110	Q7TSH4	p.Leu616Pro	rs229220173	missense variant	-	NC_000073.6:g.118722970T>C	UniProt
Ccp110	Q7TSH4	p.Phe624Ser	rs32512327	missense variant	-	NC_000073.6:g.118722994T>C	UniProt
Ccp110	Q7TSH4	p.Gly746Ser	rs13479483	missense variant	-	NC_000073.6:g.118726035G>A	UniProt
Fras1	Q80T14	p.Asn22His	rs33149911	missense variant	-	NC_000071.6:g.96374876A>C	UniProt
Fras1	Q80T14	p.Val254Ala	rs221539708	missense variant	-	NC_000071.6:g.96554861T>C	UniProt
Fras1	Q80T14	p.Ala278Val	rs255008216	missense variant	-	NC_000071.6:g.96555212C>T	UniProt
Fras1	Q80T14	p.His332Tyr	rs232510408	missense variant	-	NC_000071.6:g.96559897C>T	UniProt
Fras1	Q80T14	p.Asn345Ile	rs1133728671	missense variant	-	NC_000071.6:g.96559937A>T	UniProt
Fras1	Q80T14	p.Ile349Val	rs250086015	missense variant	-	NC_000071.6:g.96559948A>G	UniProt
Fras1	Q80T14	p.Ser570Gly	rs225138166	missense variant	-	NC_000071.6:g.96596815A>G	UniProt
Fras1	Q80T14	p.Ser576Thr	rs31848775	missense variant	-	NC_000071.6:g.96596834G>C	UniProt
Fras1	Q80T14	p.Ile582Met	rs215503916	missense variant	-	NC_000071.6:g.96596853C>G	UniProt
Fras1	Q80T14	p.Pro628Ser	rs218163972	missense variant	-	NC_000071.6:g.96598954C>T	UniProt
Fras1	Q80T14	p.Thr630Ile	rs244635380	missense variant	-	NC_000071.6:g.96598961C>T	UniProt
Fras1	Q80T14	p.Arg632Ser	rs232109080	missense variant	-	NC_000071.6:g.96598966C>A	UniProt
Fras1	Q80T14	p.Gly643Asp	rs261133305	missense variant	-	NC_000071.6:g.96599000G>A	UniProt
Fras1	Q80T14	p.Arg697Gln	rs31852374	missense variant	-	NC_000071.6:g.96600757G>A	UniProt
Fras1	Q80T14	p.Thr700Ile	rs581260844	missense variant	-	NC_000071.6:g.96600766C>T	UniProt
Fras1	Q80T14	p.Val712Ala	rs46227572	missense variant	-	NC_000071.6:g.96614775T>C	UniProt
Fras1	Q80T14	p.Pro725Ser	rs233285338	missense variant	-	NC_000071.6:g.96614813C>T	UniProt
Fras1	Q80T14	p.Glu732Gly	rs240383843	missense variant	-	NC_000071.6:g.96614835A>G	UniProt
Fras1	Q80T14	p.Ala739Thr	rs245381876	missense variant	-	NC_000071.6:g.96614855G>A	UniProt
Fras1	Q80T14	p.Cys741Tyr	rs583899486	missense variant	-	NC_000071.6:g.96614862G>A	UniProt
Fras1	Q80T14	p.Cys741Arg	rs216285655	missense variant	-	NC_000071.6:g.96614861T>C	UniProt
Fras1	Q80T14	p.Val743Ile	rs50365642	missense variant	-	NC_000071.6:g.96614867G>A	UniProt
Fras1	Q80T14	p.Gln745Arg	rs49276547	missense variant	-	NC_000071.6:g.96614874A>G	UniProt
Fras1	Q80T14	p.Thr785Ala	rs249905177	missense variant	-	NC_000071.6:g.96618436A>G	UniProt
Fras1	Q80T14	p.His788Arg	rs256556293	missense variant	-	NC_000071.6:g.96618446A>G	UniProt
Fras1	Q80T14	p.Glu795Asp	rs224130683	missense variant	-	NC_000071.6:g.96618468A>T	UniProt
Fras1	Q80T14	p.His814Gln	rs31847023	missense variant	-	NC_000071.6:g.96636080C>A	UniProt
Fras1	Q80T14	p.Thr858Arg	rs31848370	missense variant	-	NC_000071.6:g.96636732C>G	UniProt
Fras1	Q80T14	p.Ala963Thr	rs31850595	missense variant	-	NC_000071.6:g.96645098G>A	UniProt
Fras1	Q80T14	p.Gln974Glu	rs31850596	missense variant	-	NC_000071.6:g.96645131C>G	UniProt
Fras1	Q80T14	p.Arg1019His	rs31850603	missense variant	-	NC_000071.6:g.96645876G>A	UniProt
Fras1	Q80T14	p.Gln1053Arg	rs31853356	missense variant	-	NC_000071.6:g.96647507A>G	UniProt
Fras1	Q80T14	p.His1060Tyr	rs31853357	missense variant	-	NC_000071.6:g.96647527C>T	UniProt
Fras1	Q80T14	p.Arg1063Trp	rs212123290	missense variant	-	NC_000071.6:g.96647536C>T	UniProt
Fras1	Q80T14	p.Arg1063Gln	rs29823914	missense variant	-	NC_000071.6:g.96647537G>A	UniProt
Fras1	Q80T14	p.Asp1131Gly	rs31847225	missense variant	-	NC_000071.6:g.96650523A>G	UniProt
Fras1	Q80T14	p.Val1252Ile	rs245199613	missense variant	-	NC_000071.6:g.96657254G>A	UniProt
Fras1	Q80T14	p.Asp1296Gly	rs216061243	missense variant	-	NC_000071.6:g.96657387A>G	UniProt
Fras1	Q80T14	p.Thr1333Ala	rs257061708	missense variant	-	NC_000071.6:g.96667422A>G	UniProt
Fras1	Q80T14	p.Glu1377Ala	rs263973398	missense variant	-	NC_000071.6:g.96673515A>C	UniProt
Fras1	Q80T14	p.Ala1445Thr	rs31849810	missense variant	-	NC_000071.6:g.96677285G>A	UniProt
Fras1	Q80T14	p.Ala1462Val	rs232910449	missense variant	-	NC_000071.6:g.96677337C>T	UniProt
Fras1	Q80T14	p.Ser1484Thr	rs31853583	missense variant	-	NC_000071.6:g.96682303G>C	UniProt
Fras1	Q80T14	p.Val1547Met	rs253402395	missense variant	-	NC_000071.6:g.96684448G>A	UniProt
Fras1	Q80T14	p.Val1646Met	rs234826076	missense variant	-	NC_000071.6:g.96692623G>A	UniProt
Fras1	Q80T14	p.Leu1757Pro	rs31859119	missense variant	-	NC_000071.6:g.96700202T>C	UniProt
Fras1	Q80T14	p.Leu1759Arg	rs241652533	missense variant	-	NC_000071.6:g.96700208T>G	UniProt
Fras1	Q80T14	p.Arg1765Lys	rs31859120	missense variant	-	NC_000071.6:g.96700226G>A	UniProt
Fras1	Q80T14	p.Asp1770Glu	rs222818073	missense variant	-	NC_000071.6:g.96700242C>A	UniProt
Fras1	Q80T14	p.Asp1772Asn	rs240346761	missense variant	-	NC_000071.6:g.96700246G>A	UniProt
Fras1	Q80T14	p.Lys1788Asn	rs31859123	missense variant	-	NC_000071.6:g.96700296G>C	UniProt
Fras1	Q80T14	p.Ser2171Asn	rs250753037	missense variant	-	NC_000071.6:g.96714020G>A	UniProt
Fras1	Q80T14	p.Ser2200Phe	rs218137530	missense variant	-	NC_000071.6:g.96714362C>T	UniProt
Fras1	Q80T14	p.Val2204Ile	rs47366912	missense variant	-	NC_000071.6:g.96714373G>A	UniProt
Fras1	Q80T14	p.Arg2208Lys	rs29507350	missense variant	-	NC_000071.6:g.96714386G>A	UniProt
Fras1	Q80T14	p.Ser2216Leu	rs47022234	missense variant	-	NC_000071.6:g.96714410C>T	UniProt
Fras1	Q80T14	p.Ser2278Phe	rs220563012	missense variant	-	NC_000071.6:g.96726550C>T	UniProt
Fras1	Q80T14	p.Val2310Leu	rs51449566	missense variant	-	NC_000071.6:g.96726907G>T	UniProt
Fras1	Q80T14	p.Arg2314Gln	rs50615252	missense variant	-	NC_000071.6:g.96726920G>A	UniProt
Fras1	Q80T14	p.Arg2314Trp	rs253209266	missense variant	-	NC_000071.6:g.96726919C>T	UniProt
Fras1	Q80T14	p.Arg2323Ser	rs31862024	missense variant	-	NC_000071.6:g.96726946C>A	UniProt
Fras1	Q80T14	p.Arg2386Leu	rs31862714	missense variant	-	NC_000071.6:g.96728566G>T	UniProt
Fras1	Q80T14	p.Phe2413Ile	rs227780265	missense variant	-	NC_000071.6:g.96728646T>A	UniProt
Fras1	Q80T14	p.Asp2457Asn	rs244588649	missense variant	-	NC_000071.6:g.96731694G>A	UniProt
Fras1	Q80T14	p.Ala2503Val	rs260378758	missense variant	-	NC_000071.6:g.96733918C>T	UniProt
Fras1	Q80T14	p.Thr2576Met	rs255678958	missense variant	-	NC_000071.6:g.96736991C>T	UniProt
Fras1	Q80T14	p.Arg2592His	rs254971449	missense variant	-	NC_000071.6:g.96737039G>A	UniProt
Fras1	Q80T14	p.Gly2623Ser	rs31855884	missense variant	-	NC_000071.6:g.96739227G>A	UniProt
Fras1	Q80T14	p.Asp2635Asn	rs48186895	missense variant	-	NC_000071.6:g.96739263G>A	UniProt
Fras1	Q80T14	p.Glu2657Asp	rs31855885	missense variant	-	NC_000071.6:g.96739331G>C	UniProt
Fras1	Q80T14	p.Val2664Ile	rs31855886	missense variant	-	NC_000071.6:g.96739350G>A	UniProt
Fras1	Q80T14	p.Pro2744His	rs261766732	missense variant	-	NC_000071.6:g.96740827C>A	UniProt
Fras1	Q80T14	p.Ile2937Val	rs31863175	missense variant	-	NC_000071.6:g.96749522A>G	UniProt
Fras1	Q80T14	p.Glu2964Ala	rs31863176	missense variant	-	NC_000071.6:g.96749604A>C	UniProt
Fras1	Q80T14	p.Arg2970Lys	rs236880306	missense variant	-	NC_000071.6:g.96749622G>A	UniProt
Fras1	Q80T14	p.Gln2983Glu	rs252007916	missense variant	-	NC_000071.6:g.96749660C>G	UniProt
Fras1	Q80T14	p.Leu3135Pro	rs46608930	missense variant	-	NC_000071.6:g.96758142T>C	UniProt
Fras1	Q80T14	p.Val3143Met	rs31861096	missense variant	-	NC_000071.6:g.96758165G>A	UniProt
Fras1	Q80T14	p.Asp3235Asn	rs253702594	missense variant	-	NC_000071.6:g.96759660G>A	UniProt
Fras1	Q80T14	p.Gln3383Arg	rs33421267	missense variant	-	NC_000071.6:g.96764986A>G	UniProt
Fras1	Q80T14	p.Asn3395Asp	rs46879015	missense variant	-	NC_000071.6:g.96768291A>G	UniProt
Fras1	Q80T14	p.Ala3630Ser	rs244780912	missense variant	-	NC_000071.6:g.96772632G>T	UniProt
Fras1	Q80T14	p.Thr3833Ile	rs31864685	missense variant	-	NC_000071.6:g.96781236C>T	UniProt
Fras1	Q80T14	p.Val3844Ala	rs252140005	missense variant	-	NC_000071.6:g.96781269T>C	UniProt
Fras1	Q80T14	p.Met3888Ile	rs227495775	missense variant	-	NC_000071.6:g.96781402G>T	UniProt
Fras1	Q80T14	p.Asn3980Ser	rs264990256	missense variant	-	NC_000071.6:g.96781677A>G	UniProt
Phf8	Q80TJ7	p.Glu350Asp	rs1131912356	missense variant	-	NC_000086.7:g.151565974G>T	UniProt
Phf8	Q80TJ7	p.Met545Ile	rs220912080	missense variant	-	NC_000086.7:g.151573421G>C	UniProt
Phf8	Q80TJ7	p.Asn567Ser	rs29296706	missense variant	-	NC_000086.7:g.151573486A>G	UniProt
Phf8	Q80TJ7	p.Ala918Thr	rs257170866	missense variant	-	NC_000086.7:g.151630255G>A	UniProt
Phf8	Q80TJ7	p.Glu350Asp	rs1131912356	missense variant	-	NC_000086.7:g.151565974G>T	UniProt
Phf8	Q80TJ7	p.Met545Ile	rs220912080	missense variant	-	NC_000086.7:g.151573421G>C	UniProt
Phf8	Q80TJ7	p.Asn567Ser	rs29296706	missense variant	-	NC_000086.7:g.151573486A>G	UniProt
Phf8	Q80TJ7	p.Ala918Thr	rs257170866	missense variant	-	NC_000086.7:g.151630255G>A	UniProt
Sdccag8	Q80UF4	p.Val56Ile	rs220558645	missense variant	-	NC_000067.6:g.176824850G>A	UniProt
Sdccag8	Q80UF4	p.Glu57Ala	rs48465627	missense variant	-	NC_000067.6:g.176824854A>C	UniProt
Sdccag8	Q80UF4	p.Asn75Ser	rs31529600	missense variant	-	NC_000067.6:g.176826202A>G	UniProt
Sdccag8	Q80UF4	p.Pro101Thr	rs250045294	missense variant	-	NC_000067.6:g.176826279C>A	UniProt
Sdccag8	Q80UF4	p.Glu106Asp	rs49340449	missense variant	-	NC_000067.6:g.176828881A>C	UniProt
Sdccag8	Q80UF4	p.Leu160Arg	rs864306627	missense variant	-	NC_000067.6:g.176831115T>G	UniProt
Sdccag8	Q80UF4	p.Trp189Cys	rs242007764	missense variant	-	NC_000067.6:g.176840305G>C	UniProt
Sdccag8	Q80UF4	p.Ala202Val	rs49320962	missense variant	-	NC_000067.6:g.176840343C>T	UniProt
Sdccag8	Q80UF4	p.Ala402Thr	rs47172019	missense variant	-	NC_000067.6:g.176868335G>A	UniProt
Sdccag8	Q80UF4	p.Lys421Glu	rs234903415	missense variant	-	NC_000067.6:g.176874591A>G	UniProt
Sdccag8	Q80UF4	p.Val429Ala	rs49297085	missense variant	-	NC_000067.6:g.176874616T>C	UniProt
Sdccag8	Q80UF4	p.Ser438Asn	rs51436563	missense variant	-	NC_000067.6:g.176874643G>A	UniProt
Sdccag8	Q80UF4	p.Asn445Ser	rs48789464	missense variant	-	NC_000067.6:g.176874664A>G	UniProt
Sdccag8	Q80UF4	p.Val447Ile	rs246426765	missense variant	-	NC_000067.6:g.176874669G>A	UniProt
Sdccag8	Q80UF4	p.Asp453Gly	rs584148971	missense variant	-	NC_000067.6:g.176874688A>G	UniProt
Sdccag8	Q80UF4	p.Val494Asp	rs241794775	missense variant	-	NC_000067.6:g.176878102T>A	UniProt
Sdccag8	Q80UF4	p.Ser505Asn	rs249839680	missense variant	-	NC_000067.6:g.176919572G>A	UniProt
Sdccag8	Q80UF4	p.Glu508Gln	rs48867767	missense variant	-	NC_000067.6:g.176919580G>C	UniProt
Sdccag8	Q80UF4	p.Ile549Met	rs240327615	missense variant	-	NC_000067.6:g.176946126T>G	UniProt
Sdccag8	Q80UF4	p.Gln560Arg	rs263205599	missense variant	-	NC_000067.6:g.176946158A>G	UniProt
Sdccag8	Q80UF4	p.Leu609Met	rs215568942	missense variant	-	NC_000067.6:g.176948349T>A	UniProt
Sdccag8	Q80UF4	p.Leu691Ile	rs212925640	missense variant	-	NC_000067.6:g.177011962C>A	UniProt
Sdccag8	Q80UF4	p.Ala703Asp	rs238528287	missense variant	-	NC_000067.6:g.177011999C>A	UniProt
Sdccag8	Q80UF4	p.Ala707Val	rs1135130083	missense variant	-	NC_000067.6:g.177012011C>T	UniProt
Sdccag8	Q80UF4	p.Ala707Thr	rs262149423	missense variant	-	NC_000067.6:g.177012010G>A	UniProt
Impad1	Q80V26	p.Ser54Ala	rs32829290	missense variant	-	NC_000070.6:g.4792944A>C	UniProt
Impad1	Q80V26	p.Ala72Ser	rs236427011	missense variant	-	NC_000070.6:g.4792890C>A	UniProt
Impad1	Q80V26	p.Ala251Thr	rs227017296	missense variant	-	NC_000070.6:g.4769363C>T	UniProt
Tox3	Q80W03	p.His487Gln	rs583437195	missense variant	-	NC_000074.6:g.90248541G>C	UniProt
Kif20b	Q80WE4	p.Val10Leu	rs224726071	missense variant	-	NC_000085.6:g.34924653G>T	UniProt
Kif20b	Q80WE4	p.Ala49Gly	rs50824830	missense variant	-	NC_000085.6:g.34924771C>G	UniProt
Kif20b	Q80WE4	p.His100Gln	rs37041442	missense variant	-	NC_000085.6:g.34929092C>A	UniProt
Kif20b	Q80WE4	p.Leu130Arg	rs48126182	missense variant	-	NC_000085.6:g.34929721T>G	UniProt
Kif20b	Q80WE4	p.Glu200Ter	rs1132869210	stop gained	-	NC_000085.6:g.34931662G>T	UniProt
Kif20b	Q80WE4	p.Val253Met	rs37989295	missense variant	-	NC_000085.6:g.34934952G>A	UniProt
Kif20b	Q80WE4	p.Cys458Ser	rs224423040	missense variant	-	NC_000085.6:g.34937417T>A	UniProt
Kif20b	Q80WE4	p.Lys509Arg	rs216866473	missense variant	-	NC_000085.6:g.34938350A>G	UniProt
Kif20b	Q80WE4	p.Ser555Cys	rs36378724	missense variant	-	NC_000085.6:g.34938487A>T	UniProt
Kif20b	Q80WE4	p.Glu561Lys	rs255930758	missense variant	-	NC_000085.6:g.34938505G>A	UniProt
Kif20b	Q80WE4	p.Glu740Asp	rs38206724	missense variant	-	NC_000085.6:g.34941437G>C	UniProt
Kif20b	Q80WE4	p.Ala777Ser	rs243522530	missense variant	-	NC_000085.6:g.34947653G>T	UniProt
Kif20b	Q80WE4	p.Glu812Asp	rs248552532	missense variant	-	NC_000085.6:g.34949775G>T	UniProt
Kif20b	Q80WE4	p.Gly817Glu	rs13483601	missense variant	-	NC_000085.6:g.34949789G>A	UniProt
Kif20b	Q80WE4	p.Val865Ile	rs220048233	missense variant	-	NC_000085.6:g.34949932G>A	UniProt
Kif20b	Q80WE4	p.Arg873Cys	rs237492055	missense variant	-	NC_000085.6:g.34949956C>T	UniProt
Kif20b	Q80WE4	p.Asn894Asp	rs51318213	missense variant	-	NC_000085.6:g.34950019A>G	UniProt
Kif20b	Q80WE4	p.Arg911Gly	rs233264601	missense variant	-	NC_000085.6:g.34950070A>G	UniProt
Kif20b	Q80WE4	p.Arg911Ser	rs247347975	missense variant	-	NC_000085.6:g.34950072G>T	UniProt
Kif20b	Q80WE4	p.Thr923Asn	rs1134770174	missense variant	-	NC_000085.6:g.34950107C>A	UniProt
Kif20b	Q80WE4	p.Glu929Lys	rs259157486	missense variant	-	NC_000085.6:g.34950124G>A	UniProt
Kif20b	Q80WE4	p.Ser930Asn	rs226950204	missense variant	-	NC_000085.6:g.34950128G>A	UniProt
Kif20b	Q80WE4	p.Asn931Ser	rs245309934	missense variant	-	NC_000085.6:g.34950131A>G	UniProt
Kif20b	Q80WE4	p.Leu962Phe	rs213173889	missense variant	-	NC_000085.6:g.34950223C>T	UniProt
Kif20b	Q80WE4	p.Gln1060Glu	rs254949622	missense variant	-	NC_000085.6:g.34950517C>G	UniProt
Kif20b	Q80WE4	p.Asn1063Ser	rs217864972	missense variant	-	NC_000085.6:g.34950527A>G	UniProt
Kif20b	Q80WE4	p.Glu1180Lys	rs250935603	missense variant	-	NC_000085.6:g.34950877G>A	UniProt
Kif20b	Q80WE4	p.Arg1184Gln	rs219748230	missense variant	-	NC_000085.6:g.34950890G>A	UniProt
Kif20b	Q80WE4	p.His1190Arg	rs231412563	missense variant	-	NC_000085.6:g.34950908A>G	UniProt
Kif20b	Q80WE4	p.Ile1205Met	rs220353384	missense variant	-	NC_000085.6:g.34950954T>G	UniProt
Kif20b	Q80WE4	p.Ser1206Asn	rs251152220	missense variant	-	NC_000085.6:g.34950956G>A	UniProt
Kif20b	Q80WE4	p.Ser1302Asn	rs578802285	missense variant	-	NC_000085.6:g.34954722G>A	UniProt
Kif20b	Q80WE4	p.Arg1346Trp	rs580066642	missense variant	-	NC_000085.6:g.34956031C>T	UniProt
Kif20b	Q80WE4	p.Glu1404Asp	rs212176541	missense variant	-	NC_000085.6:g.34959418A>C	UniProt
Kif20b	Q80WE4	p.Val1433Leu	rs240223021	missense variant	-	NC_000085.6:g.34959503G>C	UniProt
Kif20b	Q80WE4	p.Arg1439Lys	rs254237417	missense variant	-	NC_000085.6:g.34959522G>A	UniProt
Kif20b	Q80WE4	p.Met1487Val	rs258695278	missense variant	-	NC_000085.6:g.34966140A>G	UniProt
Kif20b	Q80WE4	p.Pro1521Leu	rs587494949	missense variant	-	NC_000085.6:g.34968135C>T	UniProt
Kif20b	Q80WE4	p.Gly1553Arg	rs584140731	missense variant	-	NC_000085.6:g.34969923G>A	UniProt
Kif20b	Q80WE4	p.Met1589Lys	rs1133363650	missense variant	-	NC_000085.6:g.34970032T>A	UniProt
Kif20b	Q80WE4	p.Phe1636Cys	rs578596576	missense variant	-	NC_000085.6:g.34972452T>G	UniProt
Kif20b	Q80WE4	p.Val1654Phe	rs36783253	missense variant	-	NC_000085.6:g.34972865G>T	UniProt
Tbx10	Q810F8	p.Ala7Thr	rs262465734	missense variant	-	NC_000085.6:g.3996540G>A	UniProt
Tbx10	Q810F8	p.Thr25Pro	rs219360884	missense variant	-	NC_000085.6:g.3996594A>C	UniProt
Tbx10	Q810F8	p.Ser277Gly	rs37553546	missense variant	-	NC_000085.6:g.3998525A>G	UniProt
Tbx10	Q810F8	p.Asn307His	rs242100728	missense variant	-	NC_000085.6:g.3999009A>C	UniProt
Dlg1	Q811D0	p.Pro88Ser	rs247764317	missense variant	-	NC_000082.6:g.31684238C>T	UniProt
Dlg1	Q811D0	p.Ala91Thr	rs32534858	missense variant	-	NC_000082.6:g.31684247G>A	UniProt
Dlg1	Q811D0	p.Cys275Ser	rs1131978964	missense variant	-	NC_000082.6:g.31791725T>A	UniProt
Dlg1	Q811D0	p.Asp283Tyr	rs1134306410	missense variant	-	NC_000082.6:g.31791749G>T	UniProt
Dlg1	Q811D0	p.Asp286Tyr	rs1134683789	missense variant	-	NC_000082.6:g.31791758G>T	UniProt
Dlg1	Q811D0	p.Asn708Lys	rs32538528	missense variant	-	NC_000082.6:g.31856481T>G	UniProt
Dlg1	Q811D0	p.Pro88Ser	rs247764317	missense variant	-	NC_000082.6:g.31684238C>T	UniProt
Dlg1	Q811D0	p.Ala91Thr	rs32534858	missense variant	-	NC_000082.6:g.31684247G>A	UniProt
Dlg1	Q811D0	p.Cys275Ser	rs1131978964	missense variant	-	NC_000082.6:g.31791725T>A	UniProt
Dlg1	Q811D0	p.Asp283Tyr	rs1134306410	missense variant	-	NC_000082.6:g.31791749G>T	UniProt
Dlg1	Q811D0	p.Asp286Tyr	rs1134683789	missense variant	-	NC_000082.6:g.31791758G>T	UniProt
Dlg1	Q811D0	p.Asn708Lys	rs32538528	missense variant	-	NC_000082.6:g.31856481T>G	UniProt
Rspo2	Q8BFU0	p.Val241Met	rs221149236	missense variant	-	NC_000081.6:g.43022538C>T	UniProt
Rspo2	Q8BFU0	p.Val241Met	rs221149236	missense variant	-	NC_000081.6:g.43022538C>T	UniProt
F13a1	Q8BH61	p.Met521Leu	rs48767383	missense variant	-	NC_000079.6:g.36898168T>A	UniProt
F13a1	Q8BH61	p.Ile627Met	rs51130103	missense variant	-	NC_000079.6:g.36892833T>C	UniProt
F13a1	Q8BH61	p.Val680Met	rs51162593	missense variant	-	NC_000079.6:g.36877750C>T	UniProt
F13a1	Q8BH61	p.Arg728Lys	rs49282600	missense variant	-	NC_000079.6:g.36868781C>T	UniProt
F13a1	Q8BH61	p.Met521Leu	rs48767383	missense variant	-	NC_000079.6:g.36898168T>A	UniProt
F13a1	Q8BH61	p.Ile627Met	rs51130103	missense variant	-	NC_000079.6:g.36892833T>C	UniProt
F13a1	Q8BH61	p.Val680Met	rs51162593	missense variant	-	NC_000079.6:g.36877750C>T	UniProt
F13a1	Q8BH61	p.Arg728Lys	rs49282600	missense variant	-	NC_000079.6:g.36868781C>T	UniProt
Arid5b	Q8BM75	p.Ala113Val	rs29713139	missense variant	-	NC_000076.6:g.68243168G>A	UniProt
Arid5b	Q8BM75	p.Lys474Glu	rs29340774	missense variant	-	NC_000076.6:g.68098651T>C	UniProt
Arid5b	Q8BM75	p.Asn480Ser	rs29363880	missense variant	-	NC_000076.6:g.68098632T>C	UniProt
Arid5b	Q8BM75	p.Met666Val	rs1132462986	missense variant	-	NC_000076.6:g.68098075T>C	UniProt
Arid5b	Q8BM75	p.Leu793His	rs1132633221	missense variant	-	NC_000076.6:g.68097693A>T	UniProt
Arid5b	Q8BM75	p.Ala797Thr	rs1132302232	missense variant	-	NC_000076.6:g.68097682C>T	UniProt
Arid5b	Q8BM75	p.Asp798Tyr	rs1133822556	missense variant	-	NC_000076.6:g.68097679C>A	UniProt
Arid5b	Q8BM75	p.Ala869Ser	rs29708124	missense variant	-	NC_000076.6:g.68097466C>A	UniProt
Arid5b	Q8BM75	p.Ser872Tyr	rs50617431	missense variant	-	NC_000076.6:g.68097456G>T	UniProt
Arid5b	Q8BM75	p.His875Asn	rs46314633	missense variant	-	NC_000076.6:g.68097448G>T	UniProt
Arid5b	Q8BM75	p.Pro911Ser	rs1134357854	missense variant	-	NC_000076.6:g.68097340G>A	UniProt
Arid5b	Q8BM75	p.Thr928Ala	rs29380667	missense variant	-	NC_000076.6:g.68097289T>C	UniProt
Arid5b	Q8BM75	p.Ala937Thr	rs46056561	missense variant	-	NC_000076.6:g.68097262C>T	UniProt
Arid5b	Q8BM75	p.Pro995Ser	rs47950696	missense variant	-	NC_000076.6:g.68097088G>A	UniProt
Arid5b	Q8BM75	p.Gly1056Ser	rs29336984	missense variant	-	NC_000076.6:g.68096905C>T	UniProt
Sp8	Q8BMJ8	p.Gly174Ser	rs222965424	missense variant	-	NC_000078.6:g.118848931G>A	UniProt
Sp8	Q8BMJ8	p.Arg329Cys	rs1133304430	missense variant	-	NC_000078.6:g.118849396C>T	UniProt
Sp8	Q8BMJ8	p.Asp457Tyr	rs222270622	missense variant	-	NC_000078.6:g.118849780G>T	UniProt
Bnc2	Q8BMQ3	p.Ser451Thr	rs28069116	missense variant	-	NC_000070.6:g.84293065A>T	UniProt
Bnc2	Q8BMQ3	p.Pro599Ser	rs28069118	missense variant	-	NC_000070.6:g.84292621G>A	UniProt
Bnc2	Q8BMQ3	p.Val776Met	rs215160304	missense variant	-	NC_000070.6:g.84292090C>T	UniProt
Hhat	Q8BMT9	p.Gly4Arg	rs33096599	missense variant	-	NC_000067.6:g.192759752C>T	UniProt
Hhat	Q8BMT9	p.Asp37Asn	rs13492687	missense variant	-	NC_000067.6:g.192748931C>T	UniProt
Hhat	Q8BMT9	p.Met44Thr	rs13461165	missense variant	-	NC_000067.6:g.192748909A>G	UniProt
Hhat	Q8BMT9	p.Thr89Ile	rs13492713	missense variant	-	NC_000067.6:g.192741517G>A	UniProt
Hhat	Q8BMT9	p.Val127Met	rs33089622	missense variant	-	NC_000067.6:g.192727373C>T	UniProt
Hhat	Q8BMT9	p.Val155Ile	rs1134685134	missense variant	-	NC_000067.6:g.192727289C>T	UniProt
Hhat	Q8BMT9	p.Gln201Lys	rs217206775	missense variant	-	NC_000067.6:g.192726221G>T	UniProt
Hhat	Q8BMT9	p.His205Tyr	rs13492762	missense variant	-	NC_000067.6:g.192726209G>A	UniProt
Hhat	Q8BMT9	p.Leu266Met	rs264975717	missense variant	-	NC_000067.6:g.192717035G>T	UniProt
Hhat	Q8BMT9	p.Val286Ala	rs33859647	missense variant	-	NC_000067.6:g.192716974A>G	UniProt
Hhat	Q8BMT9	p.Arg423Gln	rs237794126	missense variant	-	NC_000067.6:g.192553079C>T	UniProt
Hhat	Q8BMT9	p.His430Arg	rs225177482	missense variant	-	NC_000067.6:g.192553058T>C	UniProt
Hhat	Q8BMT9	p.Ala439Ser	rs1134934377	missense variant	-	NC_000067.6:g.192553032C>A	UniProt
Hhat	Q8BMT9	p.Tyr483His	rs214717651	missense variant	-	NC_000067.6:g.192513937A>G	UniProt
Hhat	Q8BMT9	p.Tyr483Phe	rs252494877	missense variant	-	NC_000067.6:g.192513936T>A	UniProt
Hhat	Q8BMT9	p.Asp489Gly	rs31309031	missense variant	-	NC_000067.6:g.192513918T>C	UniProt
Qsox1	Q8BND5	p.Glu67Lys	rs13466752	missense variant	-	NC_000067.6:g.155812601C>T	UniProt
Qsox1	Q8BND5	p.Ala80Val	rs864275903	missense variant	-	NC_000067.6:g.155812561G>A	UniProt
Qsox1	Q8BND5	p.Ala137Thr	rs864281869	missense variant	-	NC_000067.6:g.155795363C>T	UniProt
Qsox1	Q8BND5	p.Asp180Asn	rs33699385	missense variant	-	NC_000067.6:g.155792271C>T	UniProt
Qsox1	Q8BND5	p.Gly181Glu	rs265379697	missense variant	-	NC_000067.6:g.155792267C>T	UniProt
Qsox1	Q8BND5	p.Asn230Ser	rs33700225	missense variant	-	NC_000067.6:g.155791053T>C	UniProt
Qsox1	Q8BND5	p.Asp457Asn	rs265158195	missense variant	-	NC_000067.6:g.155781383C>T	UniProt
Qsox1	Q8BND5	p.His500Tyr	rs13466753	missense variant	-	NC_000067.6:g.155779918G>A	UniProt
Qsox1	Q8BND5	p.Arg556Trp	rs244249716	missense variant	-	NC_000067.6:g.155779750G>A	UniProt
Qsox1	Q8BND5	p.Ser559Arg	rs227192605	missense variant	-	NC_000067.6:g.155779739A>T	UniProt
Qsox1	Q8BND5	p.Leu580Ser	rs33703172	missense variant	-	NC_000067.6:g.155779677A>G	UniProt
Qsox1	Q8BND5	p.Val598Ile	rs33703173	missense variant	-	NC_000067.6:g.155779624C>T	UniProt
Qsox1	Q8BND5	p.Ala600Thr	rs235379606	missense variant	-	NC_000067.6:g.155779618C>T	UniProt
Qsox1	Q8BND5	p.Arg629His	rs245214105	missense variant	-	NC_000067.6:g.155779530C>T	UniProt
Qsox1	Q8BND5	p.Asp632Glu	rs33703884	missense variant	-	NC_000067.6:g.155779520G>C	UniProt
Qsox1	Q8BND5	p.Phe656Leu	rs31403791	missense variant	-	NC_000067.6:g.155779448A>C	UniProt
Asph	Q8BSY0	p.Ser16Gly	rs246597799	missense variant	-	NC_000070.6:g.9668865T>C	UniProt
Asph	Q8BSY0	p.Asp178Gly	rs251173394	missense variant	-	NC_000070.6:g.9604617T>C	UniProt
Asph	Q8BSY0	p.Ala279Glu	rs27655574	missense variant	-	NC_000070.6:g.9595385G>T	UniProt
Asph	Q8BSY0	p.Lys313Arg	rs222471378	missense variant	-	NC_000070.6:g.9542298T>C	UniProt
Asph	Q8BSY0	p.Ala632Thr	rs258555610	missense variant	-	NC_000070.6:g.9475437C>T	UniProt
Asph	Q8BSY0	p.Glu681Lys	rs250308668	missense variant	-	NC_000070.6:g.9474932C>T	UniProt
Flna	Q8BTM8	p.Ala12Thr	rs223157556	missense variant	-	NC_000086.7:g.74246403C>T	UniProt
Flna	Q8BTM8	p.Arg921Gln	rs213561359	missense variant	-	NC_000086.7:g.74237485C>T	UniProt
Flna	Q8BTM8	p.Glu990Ter	rs1133456813	stop gained	-	NC_000086.7:g.74236982C>A	UniProt
Flna	Q8BTM8	p.Asn1762Thr	rs217924152	missense variant	-	NC_000086.7:g.74230329T>G	UniProt
Flna	Q8BTM8	p.Val2253Ala	rs3166685	missense variant	-	NC_000086.7:g.74227502A>G	UniProt
Plekha1	Q8BUL6	p.Ser127Asn	rs212664917	missense variant	-	NC_000073.6:g.130897362G>A	UniProt
Nsd2	Q8BVE8	p.Pro201Gln	rs47939867	missense variant	-	NC_000071.6:g.33846109C>A	UniProt
Nsd2	Q8BVE8	p.Thr397Met	rs250195054	missense variant	-	NC_000071.6:g.33855516C>T	UniProt
Nsd2	Q8BVE8	p.Asp419Glu	rs47505634	missense variant	-	NC_000071.6:g.33855583C>A	UniProt
Nsd2	Q8BVE8	p.Gly521Val	rs239168415	missense variant	-	NC_000071.6:g.33864666G>T	UniProt
Nsd2	Q8BVE8	p.Gly521Arg	rs212300349	missense variant	-	NC_000071.6:g.33864665G>A	UniProt
Nsd2	Q8BVE8	p.Ser527Thr	rs257181217	missense variant	-	NC_000071.6:g.33864684G>C	UniProt
Nsd2	Q8BVE8	p.Ala532Thr	rs217276309	missense variant	-	NC_000071.6:g.33864698G>A	UniProt
Nsd2	Q8BVE8	p.Ala536Pro	rs237920388	missense variant	-	NC_000071.6:g.33864710G>C	UniProt
Nsd2	Q8BVE8	p.Ala551Thr	rs237982965	missense variant	-	NC_000071.6:g.33864755G>A	UniProt
Nsd2	Q8BVE8	p.Ala578Thr	rs47527512	missense variant	-	NC_000071.6:g.33867634G>A	UniProt
Nsd2	Q8BVE8	p.Met662Ile	rs261601111	missense variant	-	NC_000071.6:g.33879162G>A	UniProt
Nsd2	Q8BVE8	p.Asn774His	rs46324640	missense variant	-	NC_000071.6:g.33881169A>C	UniProt
Nsd2	Q8BVE8	p.Ser832Arg	rs29509643	missense variant	-	NC_000071.6:g.33882145C>A	UniProt
Nsd2	Q8BVE8	p.Leu1328Ser	rs212246698	missense variant	-	NC_000071.6:g.33895062T>C	UniProt
Nsd2	Q8BVE8	p.Ser1345Leu	rs4225168	missense variant	-	NC_000071.6:g.33895113C>T	UniProt
Rhpn2	Q8BWR8	p.Ala360Val	rs255655496	missense variant	-	NC_000073.6:g.35377104C>T	UniProt
Rhpn2	Q8BWR8	p.Glu573Asp	rs13471249	missense variant	-	NC_000073.6:g.35385401G>T	UniProt
Rhpn2	Q8BWR8	p.Ala360Val	rs255655496	missense variant	-	NC_000073.6:g.35377104C>T	UniProt
Rhpn2	Q8BWR8	p.Glu573Asp	rs13471249	missense variant	-	NC_000073.6:g.35385401G>T	UniProt
Znf385b	Q8BXJ8	p.Lys60Glu	rs1132711214	missense variant	-	NC_000068.7:g.77719562T>C	UniProt
Znf385b	Q8BXJ8	p.Pro72Thr	rs245514090	missense variant	-	NC_000068.7:g.77719526G>T	UniProt
Znf385b	Q8BXJ8	p.Met359Thr	rs27996484	missense variant	-	NC_000068.7:g.77414628A>G	UniProt
Znf385b	Q8BXJ8	p.Lys60Glu	rs1132711214	missense variant	-	NC_000068.7:g.77719562T>C	UniProt
Znf385b	Q8BXJ8	p.Pro72Thr	rs245514090	missense variant	-	NC_000068.7:g.77719526G>T	UniProt
Znf385b	Q8BXJ8	p.Met359Thr	rs27996484	missense variant	-	NC_000068.7:g.77414628A>G	UniProt
Nuak2	Q8BZN4	p.Ala18Ser	rs226125500	missense variant	-	NC_000067.6:g.132316281G>T	UniProt
Nuak2	Q8BZN4	p.Ala24Val	rs249266606	missense variant	-	NC_000067.6:g.132316300C>T	UniProt
Nuak2	Q8BZN4	p.Phe339Ser	rs233209610	missense variant	-	NC_000067.6:g.132331477T>C	UniProt
Nuak2	Q8BZN4	p.Val377Ile	rs222919083	missense variant	-	NC_000067.6:g.132331590G>A	UniProt
Nuak2	Q8BZN4	p.Asn398Thr	rs218695695	missense variant	-	NC_000067.6:g.132331654A>C	UniProt
Nuak2	Q8BZN4	p.Pro445Leu	rs1134803153	missense variant	-	NC_000067.6:g.132331795C>T	UniProt
Nuak2	Q8BZN4	p.Arg468Gln	rs1131928630	missense variant	-	NC_000067.6:g.132331864G>A	UniProt
Nuak2	Q8BZN4	p.Leu618Met	rs212093809	missense variant	-	NC_000067.6:g.132332313C>A	UniProt
Crispld2	Q8BZQ2	p.Phe24Leu	rs256592106	missense variant	-	NC_000074.6:g.120010581T>C	UniProt
Crispld2	Q8BZQ2	p.Trp93Cys	rs13460026	missense variant	-	NC_000074.6:g.120014048G>T	UniProt
Crispld2	Q8BZQ2	p.Ile279Val	rs13460027	missense variant	-	NC_000074.6:g.120023690A>G	UniProt
Crispld2	Q8BZQ2	p.Thr434Ile	rs213334042	missense variant	-	NC_000074.6:g.120040027C>T	UniProt
Crispld2	Q8BZQ2	p.Asn480Asp	rs227901011	missense variant	-	NC_000074.6:g.120050287A>G	UniProt
Prss35	Q8C0F9	p.Leu70Phe	rs262996687	missense variant	-	NC_000075.6:g.86755386C>T	UniProt
Prss35	Q8C0F9	p.Asp173Asn	rs256591026	missense variant	-	NC_000075.6:g.86755695G>A	UniProt
Prss35	Q8C0F9	p.Arg201Thr	rs225034839	missense variant	-	NC_000075.6:g.86755780G>C	UniProt
Prss35	Q8C0F9	p.Arg234Leu	rs258106718	missense variant	-	NC_000075.6:g.86755879G>T	UniProt
Prss35	Q8C0F9	p.Ala339Ser	rs48893594	missense variant	-	NC_000075.6:g.86756193G>T	UniProt
Prss35	Q8C0F9	p.Leu70Phe	rs262996687	missense variant	-	NC_000075.6:g.86755386C>T	UniProt
Prss35	Q8C0F9	p.Asp173Asn	rs256591026	missense variant	-	NC_000075.6:g.86755695G>A	UniProt
Prss35	Q8C0F9	p.Arg201Thr	rs225034839	missense variant	-	NC_000075.6:g.86755780G>C	UniProt
Prss35	Q8C0F9	p.Arg234Leu	rs258106718	missense variant	-	NC_000075.6:g.86755879G>T	UniProt
Prss35	Q8C0F9	p.Ala339Ser	rs48893594	missense variant	-	NC_000075.6:g.86756193G>T	UniProt
Tiparp	Q8C1B2	p.Pro8Leu	rs31100593	missense variant	-	NC_000069.6:g.65531287C>T	UniProt
Tiparp	Q8C1B2	p.Ser30Phe	rs30561629	missense variant	-	NC_000069.6:g.65531353C>T	UniProt
Tiparp	Q8C1B2	p.Val179Ile	rs226249713	missense variant	-	NC_000069.6:g.65531799G>A	UniProt
Tiparp	Q8C1B2	p.Met518Leu	rs38330461	missense variant	-	NC_000069.6:g.65553143A>T	UniProt
Tiparp	Q8C1B2	p.Val651Ile	rs1132318472	missense variant	-	NC_000069.6:g.65553542G>A	UniProt
Wdpcp	Q8C456	p.Asn151Lys	rs223621729	missense variant	-	NC_000077.6:g.21691816C>A	UniProt
Wdpcp	Q8C456	p.Leu179Phe	rs26848085	missense variant	-	NC_000077.6:g.21691898C>T	UniProt
Wdpcp	Q8C456	p.Ser285Asn	rs237450091	missense variant	-	NC_000077.6:g.21711583G>A	UniProt
Wdpcp	Q8C456	p.Arg314Lys	rs232999021	missense variant	-	NC_000077.6:g.21711670G>A	UniProt
Wdpcp	Q8C456	p.Tyr389Cys	rs26830057	missense variant	-	NC_000077.6:g.21711895A>G	UniProt
Wdpcp	Q8C456	p.Val417Ile	rs222007557	missense variant	-	NC_000077.6:g.21711978G>A	UniProt
Wdpcp	Q8C456	p.Ser468Asn	rs13480905	missense variant	-	NC_000077.6:g.21721163G>A	UniProt
Wdpcp	Q8C456	p.Ile476Val	rs259517483	missense variant	-	NC_000077.6:g.21721186A>G	UniProt
Wdpcp	Q8C456	p.Arg594Lys	rs26829992	missense variant	-	NC_000077.6:g.21813421G>A	UniProt
Wdpcp	Q8C456	p.Met648Ile	rs257912637	missense variant	-	NC_000077.6:g.21857568G>A	UniProt
Wdpcp	Q8C456	p.Leu683Val	rs216593549	missense variant	-	NC_000077.6:g.21885045T>G	UniProt
Wdpcp	Q8C456	p.Gly689Val	rs260501790	missense variant	-	NC_000077.6:g.21885064G>T	UniProt
Alx1	Q8C8B0	p.Glu115Asp	rs219735975	missense variant	-	NC_000076.6:g.103025321T>G	UniProt
Alx1	Q8C8B0	p.Gly232Ser	rs257205275	missense variant	-	NC_000076.6:g.103009475C>T	UniProt
Alx1	Q8C8B0	p.Glu115Asp	rs219735975	missense variant	-	NC_000076.6:g.103025321T>G	UniProt
Alx1	Q8C8B0	p.Gly232Ser	rs257205275	missense variant	-	NC_000076.6:g.103009475C>T	UniProt
Alx1	Q8C8B0	p.Glu115Asp	rs219735975	missense variant	-	NC_000076.6:g.103025321T>G	UniProt
Alx1	Q8C8B0	p.Gly232Ser	rs257205275	missense variant	-	NC_000076.6:g.103009475C>T	UniProt
Alx1	Q8C8B0	p.Glu115Asp	rs219735975	missense variant	-	NC_000076.6:g.103025321T>G	UniProt
Alx1	Q8C8B0	p.Gly232Ser	rs257205275	missense variant	-	NC_000076.6:g.103009475C>T	UniProt
Yod1	Q8CB27	p.Ala15Thr	rs242119977	missense variant	-	NC_000067.6:g.130717526G>A	UniProt
Yod1	Q8CB27	p.Ser24Ala	rs236029556	missense variant	-	NC_000067.6:g.130717553T>G	UniProt
Yod1	Q8CB27	p.Val44Leu	rs254814533	missense variant	-	NC_000067.6:g.130717613G>C	UniProt
Yod1	Q8CB27	p.Leu54Val	rs252121252	missense variant	-	NC_000067.6:g.130717643C>G	UniProt
Yod1	Q8CB27	p.Ile74Val	rs30824896	missense variant	-	NC_000067.6:g.130717703A>G	UniProt
Yod1	Q8CB27	p.Tyr131His	rs246380003	missense variant	-	NC_000067.6:g.130718778T>C	UniProt
Yod1	Q8CB27	p.Ala140Thr	rs217099192	missense variant	-	NC_000067.6:g.130718805G>A	UniProt
Yod1	Q8CB27	p.Val190Asp	rs258719081	missense variant	-	NC_000067.6:g.130718956T>A	UniProt
Yod1	Q8CB27	p.Arg268Pro	rs864258644	missense variant	-	NC_000067.6:g.130719190G>C	UniProt
Yod1	Q8CB27	p.Ile317Val	rs249933929	missense variant	-	NC_000067.6:g.130719336A>G	UniProt
Vwa8	Q8CC88	p.Gly13Ser	rs249974881	missense variant	-	NC_000080.6:g.78849320G>A	UniProt
Vwa8	Q8CC88	p.Pro34Ser	rs248362020	missense variant	-	NC_000080.6:g.78849383C>T	UniProt
Vwa8	Q8CC88	p.Ser48Ala	rs264699791	missense variant	-	NC_000080.6:g.78849425T>G	UniProt
Vwa8	Q8CC88	p.Pro84Arg	rs1134599427	missense variant	-	NC_000080.6:g.78908135C>G	UniProt
Vwa8	Q8CC88	p.Ile88Val	rs30746850	missense variant	-	NC_000080.6:g.78908146A>G	UniProt
Vwa8	Q8CC88	p.Leu100Arg	rs242981182	missense variant	-	NC_000080.6:g.78908183T>G	UniProt
Vwa8	Q8CC88	p.Thr343Ala	rs51868253	missense variant	-	NC_000080.6:g.78937159A>G	UniProt
Vwa8	Q8CC88	p.Ile375Val	rs230859308	missense variant	-	NC_000080.6:g.78947186A>G	UniProt
Vwa8	Q8CC88	p.Lys555Arg	rs32219165	missense variant	-	NC_000080.6:g.78984269A>G	UniProt
Vwa8	Q8CC88	p.Arg576Lys	rs1133395711	missense variant	-	NC_000080.6:g.78994429G>A	UniProt
Vwa8	Q8CC88	p.Ile585Val	rs216271267	missense variant	-	NC_000080.6:g.78994455A>G	UniProt
Vwa8	Q8CC88	p.Thr708Ala	rs32214272	missense variant	-	NC_000080.6:g.79018668A>G	UniProt
Vwa8	Q8CC88	p.Glu724Lys	rs13482265	missense variant	-	NC_000080.6:g.79020582G>A	UniProt
Vwa8	Q8CC88	p.Asn741Ser	rs30115968	missense variant	-	NC_000080.6:g.79020634A>G	UniProt
Vwa8	Q8CC88	p.Lys822Arg	rs212366076	missense variant	-	NC_000080.6:g.79056688A>G	UniProt
Vwa8	Q8CC88	p.Leu889Ile	rs264307985	missense variant	-	NC_000080.6:g.79060558C>A	UniProt
Vwa8	Q8CC88	p.Val890Ile	rs31329914	missense variant	-	NC_000080.6:g.79060561G>A	UniProt
Vwa8	Q8CC88	p.Ala891Val	rs255094889	missense variant	-	NC_000080.6:g.79060565C>T	UniProt
Vwa8	Q8CC88	p.Ala891Ser	rs249549855	missense variant	-	NC_000080.6:g.79060564G>T	UniProt
Vwa8	Q8CC88	p.Leu899Val	rs215414780	missense variant	-	NC_000080.6:g.79060588C>G	UniProt
Vwa8	Q8CC88	p.Ala900Val	rs238960234	missense variant	-	NC_000080.6:g.79060592C>T	UniProt
Vwa8	Q8CC88	p.Lys940Arg	rs257843593	missense variant	-	NC_000080.6:g.79062547A>G	UniProt
Vwa8	Q8CC88	p.Val950Ile	rs226697724	missense variant	-	NC_000080.6:g.79062576G>A	UniProt
Vwa8	Q8CC88	p.Val950Ala	rs257490679	missense variant	-	NC_000080.6:g.79062577T>C	UniProt
Vwa8	Q8CC88	p.Ile969Val	rs32207446	missense variant	-	NC_000080.6:g.79062633A>G	UniProt
Vwa8	Q8CC88	p.Thr991Asn	rs218857664	missense variant	-	NC_000080.6:g.79064864C>A	UniProt
Vwa8	Q8CC88	p.Ser996Ile	rs237639087	missense variant	-	NC_000080.6:g.79064879G>T	UniProt
Vwa8	Q8CC88	p.Lys1029Glu	rs1134005098	missense variant	-	NC_000080.6:g.79064977A>G	UniProt
Vwa8	Q8CC88	p.Val1062Ile	rs239748967	missense variant	-	NC_000080.6:g.79081183G>A	UniProt
Vwa8	Q8CC88	p.Leu1078His	rs258472240	missense variant	-	NC_000080.6:g.79082783T>A	UniProt
Vwa8	Q8CC88	p.Lys1145Glu	rs46041301	missense variant	-	NC_000080.6:g.79086691A>G	UniProt
Vwa8	Q8CC88	p.Arg1178Lys	rs46656101	missense variant	-	NC_000080.6:g.79086791G>A	UniProt
Vwa8	Q8CC88	p.Ser1220Asn	rs248357021	missense variant	-	NC_000080.6:g.79092388G>A	UniProt
Vwa8	Q8CC88	p.Phe1328Leu	rs246317837	missense variant	-	NC_000080.6:g.79096393T>C	UniProt
Vwa8	Q8CC88	p.Ile1427Val	rs228317780	missense variant	-	NC_000080.6:g.79098384A>G	UniProt
Vwa8	Q8CC88	p.Pro1430Arg	rs248413551	missense variant	-	NC_000080.6:g.79098394C>G	UniProt
Vwa8	Q8CC88	p.Ala1488Val	rs215427990	missense variant	-	NC_000080.6:g.79103548C>T	UniProt
Vwa8	Q8CC88	p.Val1498Ile	rs31025485	missense variant	-	NC_000080.6:g.79103577G>A	UniProt
Vwa8	Q8CC88	p.Asp1577Gly	rs213268661	missense variant	-	NC_000080.6:g.79159974A>G	UniProt
Vwa8	Q8CC88	p.Asp1605Asn	rs32202692	missense variant	-	NC_000080.6:g.79160057G>A	UniProt
Vwa8	Q8CC88	p.Ala1638Thr	rs221167655	missense variant	-	NC_000080.6:g.79164138G>A	UniProt
Vwa8	Q8CC88	p.Glu1794Ala	rs31045152	missense variant	-	NC_000080.6:g.79198232A>C	UniProt
Vwa8	Q8CC88	p.Thr1817Ile	rs265053724	missense variant	-	NC_000080.6:g.79198301C>T	UniProt
Cplane1	Q8CE72	p.Pro59Ala	rs32686582	missense variant	-	NC_000081.6:g.8174819C>G	UniProt
Cplane1	Q8CE72	p.Ala110Val	rs32686580	missense variant	-	NC_000081.6:g.8175068C>T	UniProt
Cplane1	Q8CE72	p.Asp214Ala	rs32684976	missense variant	-	NC_000081.6:g.8178407A>C	UniProt
Cplane1	Q8CE72	p.Ser243Asn	rs240325078	missense variant	-	NC_000081.6:g.8179808G>A	UniProt
Cplane1	Q8CE72	p.Arg247Lys	rs263728174	missense variant	-	NC_000081.6:g.8179820G>A	UniProt
Cplane1	Q8CE72	p.Ser253Pro		Missense	-	-	UniProt
Cplane1	Q8CE72	p.Arg263Lys	rs235759823	missense variant	-	NC_000081.6:g.8179868G>A	UniProt
Cplane1	Q8CE72	p.Thr330Ala	rs32682731	missense variant	-	NC_000081.6:g.8182165A>G	UniProt
Cplane1	Q8CE72	p.Gly360Trp	rs1134237998	missense variant	-	NC_000081.6:g.8182255G>T	UniProt
Cplane1	Q8CE72	p.Cys386Ser	rs32681293	missense variant	-	NC_000081.6:g.8186118G>C	UniProt
Cplane1	Q8CE72	p.Asp388Gly	rs239387285	missense variant	-	NC_000081.6:g.8186124A>G	UniProt
Cplane1	Q8CE72	p.Ile413Val	rs237687975	missense variant	-	NC_000081.6:g.8186198A>G	UniProt
Cplane1	Q8CE72	p.Thr432Ala	rs255027934	missense variant	-	NC_000081.6:g.8186255A>G	UniProt
Cplane1	Q8CE72	p.Glu457Lys	rs32681292	missense variant	-	NC_000081.6:g.8186330G>A	UniProt
Cplane1	Q8CE72	p.Pro536Gln	rs260051630	missense variant	-	NC_000081.6:g.8186906C>A	UniProt
Cplane1	Q8CE72	p.Phe537Leu	rs32681290	missense variant	-	NC_000081.6:g.8186908T>C	UniProt
Cplane1	Q8CE72	p.Leu726Phe	rs32681288	missense variant	-	NC_000081.6:g.8187477A>C	UniProt
Cplane1	Q8CE72	p.Ala1040Val	rs32679734	missense variant	-	NC_000081.6:g.8201359C>T	UniProt
Cplane1	Q8CE72	p.Val1141Ile	rs260822637	missense variant	-	NC_000081.6:g.8203419G>A	UniProt
Cplane1	Q8CE72	p.Arg1193Gln	rs32682599	missense variant	-	NC_000081.6:g.8203770G>A	UniProt
Cplane1	Q8CE72	p.Thr1248Ala	rs32680971	missense variant	-	NC_000081.6:g.8210058A>G	UniProt
Cplane1	Q8CE72	p.Met1395Ile	rs220547098	missense variant	-	NC_000081.6:g.8216330G>A	UniProt
Cplane1	Q8CE72	p.Thr1397Ala	rs246236099	missense variant	-	NC_000081.6:g.8216334A>G	UniProt
Cplane1	Q8CE72	p.Asp1428Gly	rs32678159	missense variant	-	NC_000081.6:g.8216428A>G	UniProt
Cplane1	Q8CE72	p.Pro1446Arg	rs586892181	missense variant	-	NC_000081.6:g.8216482C>G	UniProt
Cplane1	Q8CE72	p.Ala1465Thr	rs229776906	missense variant	-	NC_000081.6:g.8216538G>A	UniProt
Cplane1	Q8CE72	p.Val1506Ile	rs252802013	missense variant	-	NC_000081.6:g.8218484G>A	UniProt
Cplane1	Q8CE72	p.Asn1508Thr	rs212700105	missense variant	-	NC_000081.6:g.8218491A>C	UniProt
Cplane1	Q8CE72	p.Glu1511Ala	rs229735977	missense variant	-	NC_000081.6:g.8218500A>C	UniProt
Cplane1	Q8CE72	p.Gln1514Arg	rs864304470	missense variant	-	NC_000081.6:g.8218509A>G	UniProt
Cplane1	Q8CE72	p.Asp1518Glu	rs221707017	missense variant	-	NC_000081.6:g.8218522T>G	UniProt
Cplane1	Q8CE72	p.Pro1522Ala	rs245902738	missense variant	-	NC_000081.6:g.8218532C>G	UniProt
Cplane1	Q8CE72	p.Glu1525Ala	rs262896972	missense variant	-	NC_000081.6:g.8218542A>C	UniProt
Cplane1	Q8CE72	p.Ser1544Asn	rs32676501	missense variant	-	NC_000081.6:g.8218599G>A	UniProt
Cplane1	Q8CE72	p.Ile1553Val	rs32676500	missense variant	-	NC_000081.6:g.8218625A>G	UniProt
Cplane1	Q8CE72	p.Arg1574His	rs230312075	missense variant	-	NC_000081.6:g.8218689G>A	UniProt
Cplane1	Q8CE72	p.Ser1627Thr	rs32676498	missense variant	-	NC_000081.6:g.8218848G>C	UniProt
Cplane1	Q8CE72	p.Phe1633Leu	rs246990129	missense variant	-	NC_000081.6:g.8218867C>A	UniProt
Cplane1	Q8CE72	p.Arg1675Lys	rs213167088	missense variant	-	NC_000081.6:g.8218992G>A	UniProt
Cplane1	Q8CE72	p.Gly1806Asp	rs240609223	missense variant	-	NC_000081.6:g.8219385G>A	UniProt
Cplane1	Q8CE72	p.Arg1813His	rs256455706	missense variant	-	NC_000081.6:g.8220868G>A	UniProt
Cplane1	Q8CE72	p.Asp1862Ala	rs32684008	missense variant	-	NC_000081.6:g.8221830A>C	UniProt
Cplane1	Q8CE72	p.Ala1865Thr	rs220906006	missense variant	-	NC_000081.6:g.8221838G>A	UniProt
Cplane1	Q8CE72	p.Gly1886Glu	rs225335387	missense variant	-	NC_000081.6:g.8221902G>A	UniProt
Cplane1	Q8CE72	p.Arg1917Met	rs32683343	missense variant	-	NC_000081.6:g.8222382G>T	UniProt
Cplane1	Q8CE72	p.Ser1924Leu	rs32683342	missense variant	-	NC_000081.6:g.8222403C>T	UniProt
Cplane1	Q8CE72	p.His1988Tyr	rs246464434	missense variant	-	NC_000081.6:g.8227019C>T	UniProt
Cplane1	Q8CE72	p.Glu2123Lys	rs240720311	missense variant	-	NC_000081.6:g.8228638G>A	UniProt
Cplane1	Q8CE72	p.Thr2128Ala	rs261153235	missense variant	-	NC_000081.6:g.8228653A>G	UniProt
Cplane1	Q8CE72	p.Phe2134Val	rs864268388	missense variant	-	NC_000081.6:g.8228671T>G	UniProt
Cplane1	Q8CE72	p.Pro2167Ser	rs46717514	missense variant	-	NC_000081.6:g.8228770C>T	UniProt
Cplane1	Q8CE72	p.Ser2238Trp	rs264646061	missense variant	-	NC_000081.6:g.8228984C>G	UniProt
Cplane1	Q8CE72	p.Ser2239Arg	rs32679318	missense variant	-	NC_000081.6:g.8228986A>C	UniProt
Cplane1	Q8CE72	p.Ala2243Ser	rs243509456	missense variant	-	NC_000081.6:g.8228998G>T	UniProt
Cplane1	Q8CE72	p.Gly2255Ser	rs226607172	missense variant	-	NC_000081.6:g.8229034G>A	UniProt
Cplane1	Q8CE72	p.Ala2266Thr	rs219561911	missense variant	-	NC_000081.6:g.8229067G>A	UniProt
Cplane1	Q8CE72	p.Val2286Met	rs250218723	missense variant	-	NC_000081.6:g.8229127G>A	UniProt
Cplane1	Q8CE72	p.Ser2292Arg	rs212715673	missense variant	-	NC_000081.6:g.8229147C>G	UniProt
Cplane1	Q8CE72	p.Asn2300His	rs251266341	missense variant	-	NC_000081.6:g.8229169A>C	UniProt
Cplane1	Q8CE72	p.Gln2338Leu	rs32679314	missense variant	-	NC_000081.6:g.8229284A>T	UniProt
Cplane1	Q8CE72	p.Ala2376Val	rs227766676	missense variant	-	NC_000081.6:g.8230282C>T	UniProt
Cplane1	Q8CE72	p.Gly2381Glu	rs578628692	missense variant	-	NC_000081.6:g.8230297G>A	UniProt
Cplane1	Q8CE72	p.Ala2385Ser	rs32686694	missense variant	-	NC_000081.6:g.8230308G>T	UniProt
Cplane1	Q8CE72	p.His2388Gln	rs582042735	missense variant	-	NC_000081.6:g.8230319C>G	UniProt
Cplane1	Q8CE72	p.Val2390Leu	rs585387677	missense variant	-	NC_000081.6:g.8230323G>C	UniProt
Cplane1	Q8CE72	p.Gly2391Glu	rs579291015	missense variant	-	NC_000081.6:g.8230327G>A	UniProt
Cplane1	Q8CE72	p.Ser2393Asn	rs580230906	missense variant	-	NC_000081.6:g.8230333G>A	UniProt
Cplane1	Q8CE72	p.Met2394Val	rs32685963	missense variant	-	NC_000081.6:g.8230335A>G	UniProt
Cplane1	Q8CE72	p.Gly2398Glu	rs585918182	missense variant	-	NC_000081.6:g.8230348G>A	UniProt
Cplane1	Q8CE72	p.Ile2399Thr	rs579772503	missense variant	-	NC_000081.6:g.8230351T>C	UniProt
Cplane1	Q8CE72	p.Gln2401Arg	rs586623416	missense variant	-	NC_000081.6:g.8230357A>G	UniProt
Cplane1	Q8CE72	p.Gln2415Arg	rs32685956	missense variant	-	NC_000081.6:g.8231141A>G	UniProt
Cplane1	Q8CE72	p.Arg2423Gly	rs864281079	missense variant	-	NC_000081.6:g.8231164A>G	UniProt
Cplane1	Q8CE72	p.Ile2444Val	rs32685955	missense variant	-	NC_000081.6:g.8231227A>G	UniProt
Cplane1	Q8CE72	p.Asp2511Tyr	rs1134262638	missense variant	-	NC_000081.6:g.8242296G>T	UniProt
Cplane1	Q8CE72	p.Ser2515Cys	rs1134825956	missense variant	-	NC_000081.6:g.8242308A>T	UniProt
Cplane1	Q8CE72	p.Lys2516Gln	rs1133186274	missense variant	-	NC_000081.6:g.8242311A>C	UniProt
Cplane1	Q8CE72	p.Pro2529Ala	rs232710380	missense variant	-	NC_000081.6:g.8243811C>G	UniProt
Cplane1	Q8CE72	p.Leu2546Phe	rs32682914	missense variant	-	NC_000081.6:g.8243862C>T	UniProt
Cplane1	Q8CE72	p.Ser2556Phe	rs218801740	missense variant	-	NC_000081.6:g.8243893C>T	UniProt
Cplane1	Q8CE72	p.Pro2582Leu	rs32682229	missense variant	-	NC_000081.6:g.8244279C>T	UniProt
Cplane1	Q8CE72	p.Ala2601Val	rs247394339	missense variant	-	NC_000081.6:g.8244336C>T	UniProt
Cplane1	Q8CE72	p.Ile2614Val	rs32682228	missense variant	-	NC_000081.6:g.8244374A>G	UniProt
Cplane1	Q8CE72	p.Ile2614Val	rs46342145	missense variant	-	NC_000081.6:g.8244374A>G	UniProt
Cplane1	Q8CE72	p.Asp2616Asn	rs242869205	missense variant	-	NC_000081.6:g.8244380G>A	UniProt
Cplane1	Q8CE72	p.Ala2618Val	rs32682227	missense variant	-	NC_000081.6:g.8244387C>T	UniProt
Cplane1	Q8CE72	p.Glu2650Gly	rs262929250	missense variant	-	NC_000081.6:g.8244678A>G	UniProt
Cplane1	Q8CE72	p.Pro2715Leu	rs266207240	missense variant	-	NC_000081.6:g.8247017C>T	UniProt
Cplane1	Q8CE72	p.Pro2723Leu	rs52556048	missense variant	-	NC_000081.6:g.8247041C>T	UniProt
Cplane1	Q8CE72	p.Ala2727Thr	rs245645673	missense variant	-	NC_000081.6:g.8247052G>A	UniProt
Cplane1	Q8CE72	p.Ala2750Thr	rs223955249	missense variant	-	NC_000081.6:g.8247121G>A	UniProt
Cplane1	Q8CE72	p.Val2769Leu	rs261506055	missense variant	-	NC_000081.6:g.8247178G>C	UniProt
Cplane1	Q8CE72	p.Ser2785Pro	rs256056459	missense variant	-	NC_000081.6:g.8247226T>C	UniProt
Cplane1	Q8CE72	p.Glu2793Asp	rs230964926	missense variant	-	NC_000081.6:g.8247252A>C	UniProt
Cplane1	Q8CE72	p.Ser2805Pro	rs262471372	missense variant	-	NC_000081.6:g.8251007T>C	UniProt
Cplane1	Q8CE72	p.Gly2806Ser	rs213877016	missense variant	-	NC_000081.6:g.8251010G>A	UniProt
Cplane1	Q8CE72	p.Ser2819Asn	rs241251425	missense variant	-	NC_000081.6:g.8251050G>A	UniProt
Cplane1	Q8CE72	p.Glu2834Asp	rs261963098	missense variant	-	NC_000081.6:g.8252180G>T	UniProt
Cplane1	Q8CE72	p.Leu2880Val	rs214877194	missense variant	-	NC_000081.6:g.8258316T>G	UniProt
Cplane1	Q8CE72	p.Ser2965Leu	rs227390279	missense variant	-	NC_000081.6:g.8260615C>T	UniProt
Cplane1	Q8CE72	p.Ser2965Ala	rs255131939	missense variant	-	NC_000081.6:g.8260614T>G	UniProt
Cplane1	Q8CE72	p.Arg3004His	rs47996885	missense variant	-	NC_000081.6:g.8262373G>A	UniProt
Cplane1	Q8CE72	p.Asn3027Thr	rs266164682	missense variant	-	NC_000081.6:g.8262984A>C	UniProt
Cplane1	Q8CE72	p.Asn3042Lys	rs233241002	missense variant	-	NC_000081.6:g.8263030T>G	UniProt
Cplane1	Q8CE72	p.Pro3046His	rs46986496	missense variant	-	NC_000081.6:g.8263041C>A	UniProt
Cplane1	Q8CE72	p.Ile3078Asn	rs245089234	missense variant	-	NC_000081.6:g.8264385T>A	UniProt
Cplane1	Q8CE72	p.Leu3084Val	rs220150212	missense variant	-	NC_000081.6:g.8264402C>G	UniProt
Cplane1	Q8CE72	p.Ser3093Ala	rs237760385	missense variant	-	NC_000081.6:g.8264429T>G	UniProt
Cplane1	Q8CE72	p.Arg3111Cys	rs246703930	missense variant	-	NC_000081.6:g.8269660C>T	UniProt
Cplane1	Q8CE72	p.Val3134Leu	rs250641182	missense variant	-	NC_000081.6:g.8269729G>C	UniProt
Cplane1	Q8CE72	p.Ser3135Gly	rs257170341	missense variant	-	NC_000081.6:g.8269732A>G	UniProt
Cplane1	Q8CE72	p.Gly3149Asp	rs224271719	missense variant	-	NC_000081.6:g.8269775G>A	UniProt
Cplane1	Q8CE72	p.Glu3152Gly	rs213796780	missense variant	-	NC_000081.6:g.8269784A>G	UniProt
Cplane1	Q8CE72	p.Met3175Val	rs237592946	missense variant	-	NC_000081.6:g.8270733A>G	UniProt
Cplane1	Q8CE72	p.Val3178Met	rs264080560	missense variant	-	NC_000081.6:g.8270742G>A	UniProt
Rpgrip1l	Q8CG73	p.Leu178Ile	rs36686738	missense variant	-	NC_000074.6:g.91300878G>T	UniProt
Rpgrip1l	Q8CG73	p.Glu202Gly	rs1133510386	missense variant	-	NC_000074.6:g.91300805T>C	UniProt
Rpgrip1l	Q8CG73	p.Thr268Met	rs38154461	missense variant	-	NC_000074.6:g.91289702G>A	UniProt
Rpgrip1l	Q8CG73	p.Ser769Trp	rs32941050	missense variant	-	NC_000074.6:g.91261122G>C	UniProt
Rpgrip1l	Q8CG73	p.Gln778Arg	rs241357306	missense variant	-	NC_000074.6:g.91261095T>C	UniProt
Rpgrip1l	Q8CG73	p.Val794Gly	rs48663305	missense variant	-	NC_000074.6:g.91261047A>C	UniProt
Rpgrip1l	Q8CG73	p.Tyr808His	rs32896079	missense variant	-	NC_000074.6:g.91261006A>G	UniProt
Rpgrip1l	Q8CG73	p.Val830Ile	rs37659493	missense variant	-	NC_000074.6:g.91260940C>T	UniProt
Rpgrip1l	Q8CG73	p.Lys891Arg	rs248467794	missense variant	-	NC_000074.6:g.91260756T>C	UniProt
Rpgrip1l	Q8CG73	p.Val936Ile	rs258689155	missense variant	-	NC_000074.6:g.91253144C>T	UniProt
Rpgrip1l	Q8CG73	p.Pro1004Leu	rs234601224	missense variant	-	NC_000074.6:g.91252525G>A	UniProt
Rpgrip1l	Q8CG73	p.Gly1051Glu	rs242787833	missense variant	-	NC_000074.6:g.91251206C>T	UniProt
Rpgrip1l	Q8CG73	p.Gly1051Arg	rs216349790	missense variant	-	NC_000074.6:g.91251207C>G	UniProt
Rpgrip1l	Q8CG73	p.Arg1219Gly	rs1134315671	missense variant	-	NC_000074.6:g.91221399T>C	UniProt
Rpgrip1l	Q8CG73	p.Gly1235Ser	rs37757562	missense variant	-	NC_000074.6:g.91220269C>T	UniProt
Rpgrip1l	Q8CG73	p.Ser1253Phe	rs37082918	missense variant	-	NC_000074.6:g.91220214G>A	UniProt
Rpgrip1l	Q8CG73	p.Leu1262Trp	rs226169258	missense variant	-	NC_000074.6:g.91220187A>C	UniProt
Arhgap29	Q8CGF1	p.Val99Ile	rs30279861	missense variant	-	NC_000069.6:g.121981904G>A	UniProt
Arhgap29	Q8CGF1	p.Glu106Asp	rs30280817	missense variant	-	NC_000069.6:g.121981927G>C	UniProt
Arhgap29	Q8CGF1	p.Ile128Leu	rs243495526	missense variant	-	NC_000069.6:g.121988530A>C	UniProt
Arhgap29	Q8CGF1	p.Thr214Ser	rs30290847	missense variant	-	NC_000069.6:g.121991065A>T	UniProt
Arhgap29	Q8CGF1	p.Ala324Thr	rs259656773	missense variant	-	NC_000069.6:g.121992757G>A	UniProt
Arhgap29	Q8CGF1	p.Pro491Leu	rs1133989290	missense variant	-	NC_000069.6:g.122003238C>T	UniProt
Arhgap29	Q8CGF1	p.Glu497Gly	rs52058776	missense variant	-	NC_000069.6:g.122003256A>G	UniProt
Arhgap29	Q8CGF1	p.Val532Ile	rs216901654	missense variant	-	NC_000069.6:g.122004256G>A	UniProt
Arhgap29	Q8CGF1	p.His987Leu	rs45964528	missense variant	-	NC_000069.6:g.122014134A>T	UniProt
Arhgap29	Q8CGF1	p.Gly1129Ser	rs45785674	missense variant	-	NC_000069.6:g.122014559G>A	UniProt
Arhgap29	Q8CGF1	p.Ser1130Gly	rs31575520	missense variant	-	NC_000069.6:g.122014562A>G	UniProt
Tph2	Q8CGV2	p.Asp27Glu	rs236870270	missense variant	-	NC_000076.6:g.115184809A>C	UniProt
Tph2	Q8CGV2	p.Pro447Arg	rs33849125	missense variant	-	NC_000076.6:g.115079794G>C	UniProt
Pdgfc	Q8CI19	p.Val50Ile	rs226812628	missense variant	-	NC_000069.6:g.81141434G>A	UniProt
Pdgfc	Q8CI19	p.Ile103Leu	rs32614309	missense variant	-	NC_000069.6:g.81141593A>C	UniProt
Pdgfc	Q8CI19	p.Thr128Asn	rs229880008	missense variant	-	NC_000069.6:g.81174884C>A	UniProt
Bag4	Q8CI61	p.Gly115Ser	rs259705588	missense variant	-	NC_000074.6:g.25777458C>T	UniProt
Bag4	Q8CI61	p.Thr167Ala	rs261987131	missense variant	-	NC_000074.6:g.25771213T>C	UniProt
Bag4	Q8CI61	p.Gln231His	rs213232973	missense variant	-	NC_000074.6:g.25769477C>A	UniProt
Bag4	Q8CI61	p.Gly234Ala	rs243918479	missense variant	-	NC_000074.6:g.25769469C>G	UniProt
Bag4	Q8CI61	p.Ala252Thr	rs226630643	missense variant	-	NC_000074.6:g.25769416C>T	UniProt
Bag4	Q8CI61	p.Ser357Cys	rs232262442	missense variant	-	NC_000074.6:g.25768229T>A	UniProt
Adgrl2	Q8JZZ7	p.Leu136Val	rs30475583	missense variant	-	NC_000069.6:g.148859537A>C	UniProt
Adgrl2	Q8JZZ7	p.Phe794Leu	rs47742628	missense variant	-	NC_000069.6:g.148837707A>G	UniProt
Adgrl2	Q8JZZ7	p.Arg820Cys	rs1131870716	missense variant	-	NC_000069.6:g.148837629G>A	UniProt
Adgrl2	Q8JZZ7	p.Lys1146Thr	rs1132979449	missense variant	-	NC_000069.6:g.148823742T>G	UniProt
Adgrl2	Q8JZZ7	p.Ala1232Val	rs244575638	missense variant	-	NC_000069.6:g.148821294G>A	UniProt
Adgrl2	Q8JZZ7	p.His1446Gln	rs214627221	missense variant	-	NC_000069.6:g.148817300A>C	UniProt
Cyp51a1	Q8K0C4	p.His63Tyr	rs31163698	missense variant	-	NC_000071.6:g.4103014G>A	UniProt
Cyp51a1	Q8K0C4	p.Leu362Val	rs212910614	missense variant	-	NC_000071.6:g.4087858A>C	UniProt
Cyp51a1	Q8K0C4	p.Ala416Thr	rs232947039	missense variant	-	NC_000071.6:g.4086547C>T	UniProt
Esrp2	Q8K0G8	p.Thr696Ala	rs247034183	missense variant	-	NC_000074.6:g.106131562T>C	UniProt
Evc2	Q8K1G2	p.Ala23Thr	rs48592620	missense variant	-	NC_000071.6:g.37338614G>A	UniProt
Evc2	Q8K1G2	p.Ser30Ala	rs47046935	missense variant	-	NC_000071.6:g.37338635T>G	UniProt
Evc2	Q8K1G2	p.Ser58Asn	rs221664547	missense variant	-	NC_000071.6:g.37338720G>A	UniProt
Evc2	Q8K1G2	p.Glu73Lys	rs47884812	missense variant	-	NC_000071.6:g.37347476G>A	UniProt
Evc2	Q8K1G2	p.Val115Met	rs215847212	missense variant	-	NC_000071.6:g.37348681G>A	UniProt
Evc2	Q8K1G2	p.Val201Leu	rs51481621	missense variant	-	NC_000071.6:g.37357400G>C	UniProt
Evc2	Q8K1G2	p.Ile213Met	rs47517768	missense variant	-	NC_000071.6:g.37357438C>G	UniProt
Evc2	Q8K1G2	p.Ala214Val	rs46037801	missense variant	-	NC_000071.6:g.37357440C>T	UniProt
Evc2	Q8K1G2	p.Val224Leu	rs45683716	missense variant	-	NC_000071.6:g.37357469G>T	UniProt
Evc2	Q8K1G2	p.Met240Val	rs46030434	missense variant	-	NC_000071.6:g.37357517A>G	UniProt
Evc2	Q8K1G2	p.Arg584Lys	rs50530028	missense variant	-	NC_000071.6:g.37383212G>A	UniProt
Evc2	Q8K1G2	p.Leu725Pro	rs33500242	missense variant	-	NC_000071.6:g.37387082T>C	UniProt
Evc2	Q8K1G2	p.Leu735Met	rs51441347	missense variant	-	NC_000071.6:g.37387111C>A	UniProt
Evc2	Q8K1G2	p.Arg800Gln	rs46302469	missense variant	-	NC_000071.6:g.37392160G>A	UniProt
Evc2	Q8K1G2	p.Ser908Gly	rs235071656	missense variant	-	NC_000071.6:g.37410402A>G	UniProt
Evc2	Q8K1G2	p.Ser969Arg	rs261048186	missense variant	-	NC_000071.6:g.37415852C>A	UniProt
Evc2	Q8K1G2	p.Gly1009Ser	rs1134996490	missense variant	-	NC_000071.6:g.37417427G>A	UniProt
Evc2	Q8K1G2	p.Ile1019Met	rs47533387	missense variant	-	NC_000071.6:g.37417459T>G	UniProt
Evc2	Q8K1G2	p.Leu1052Phe	rs47468688	missense variant	-	NC_000071.6:g.37419187C>T	UniProt
Evc2	Q8K1G2	p.His1076Tyr	rs45915710	missense variant	-	NC_000071.6:g.37419259C>T	UniProt
Evc2	Q8K1G2	p.Ser1086Gly	rs33220874	missense variant	-	NC_000071.6:g.37419289A>G	UniProt
Evc2	Q8K1G2	p.Ser1095Gly	rs256080599	missense variant	-	NC_000071.6:g.37419316A>G	UniProt
Evc2	Q8K1G2	p.Val1102Gly	rs221919626	missense variant	-	NC_000071.6:g.37421849T>G	UniProt
Evc2	Q8K1G2	p.Val1106Ala	rs33730442	missense variant	-	NC_000071.6:g.37421861T>C	UniProt
Evc2	Q8K1G2	p.Gln1128Arg	rs50583619	missense variant	-	NC_000071.6:g.37421927A>G	UniProt
Evc2	Q8K1G2	p.Arg1132Ser	rs242976877	missense variant	-	NC_000071.6:g.37421938C>A	UniProt
Evc2	Q8K1G2	p.Pro1190Ser	rs50595002	missense variant	-	NC_000071.6:g.37424581C>T	UniProt
Colgalt1	Q8K297	p.Ala3Val	rs222078701	missense variant	-	NC_000074.6:g.71611207C>T	UniProt
Colgalt1	Q8K297	p.Arg6Cys	rs246408996	missense variant	-	NC_000074.6:g.71611215C>T	UniProt
Colgalt1	Q8K297	p.Ala58Gly	rs262891263	missense variant	-	NC_000074.6:g.71611372C>G	UniProt
Colgalt1	Q8K297	p.Thr250Pro	rs32706986	missense variant	-	NC_000074.6:g.71618213A>C	UniProt
Colgalt1	Q8K297	p.Arg452His	rs221435430	missense variant	-	NC_000074.6:g.71622806G>A	UniProt
Colgalt1	Q8K297	p.Glu598Asp	rs13470368	missense variant	-	NC_000074.6:g.71623700G>C	UniProt
Bbs7	Q8K2G4	p.Ile45Thr	rs51517092	missense variant	-	NC_000069.6:g.36610597A>G	UniProt
Bbs7	Q8K2G4	p.Val49Met	rs51993815	missense variant	-	NC_000069.6:g.36610586C>T	UniProt
Bbs7	Q8K2G4	p.Ala54Val	rs51971749	missense variant	-	NC_000069.6:g.36610570G>A	UniProt
Bbs7	Q8K2G4	p.Leu107Phe	rs1131751572	missense variant	-	NC_000069.6:g.36610202G>A	UniProt
Bbs7	Q8K2G4	p.Glu109Val	rs1134397877	missense variant	-	NC_000069.6:g.36610195T>A	UniProt
Bbs7	Q8K2G4	p.Ser110Asn	rs1131942331	missense variant	-	NC_000069.6:g.36610192C>T	UniProt
Bbs7	Q8K2G4	p.Val161Met	rs3681481	missense variant	-	NC_000069.6:g.36607568C>T	UniProt
Bbs7	Q8K2G4	p.Met181Lys	rs248581988	missense variant	-	NC_000069.6:g.36605743A>T	UniProt
Tbx22	Q8K402	p.Phe71Ser	rs29092941	missense variant	-	NC_000086.7:g.107677642T>C	UniProt
Tbx22	Q8K402	p.Ile235Thr	rs29091373	missense variant	-	NC_000086.7:g.107681220T>C	UniProt
Tbx22	Q8K402	p.Val322Ala	rs235457130	missense variant	-	NC_000086.7:g.107684871T>C	UniProt
Tbx22	Q8K402	p.Tyr360His	rs262045022	missense variant	-	NC_000086.7:g.107684984T>C	UniProt
Tbx22	Q8K402	p.Asn492Asp	rs29090840	missense variant	-	NC_000086.7:g.107685380A>G	UniProt
Tbx22	Q8K402	p.His515Asn	rs253771956	missense variant	-	NC_000086.7:g.107685449C>A	UniProt
Grhl2	Q8K5C0	p.Asp129Glu	rs233349904	missense variant	-	NC_000081.6:g.37279436C>G	UniProt
Grhl2	Q8K5C0	p.Ser219Asn	rs244697636	missense variant	-	NC_000081.6:g.37279705G>A	UniProt
Wfikkn1	Q8R0S6	p.Val15Ala	rs222261826	missense variant	-	NC_000083.6:g.25880000A>G	UniProt
Wfikkn1	Q8R0S6	p.Ala526Thr	rs228887274	missense variant	-	NC_000083.6:g.25877773C>T	UniProt
Sgpl1	Q8R0X7	p.Ser21Ala	rs214523475	missense variant	-	NC_000076.6:g.61123441A>C	UniProt
Sgpl1	Q8R0X7	p.Thr24Ile	rs256485679	missense variant	-	NC_000076.6:g.61123431G>A	UniProt
Sgpl1	Q8R0X7	p.Val108Ala	rs864285510	missense variant	-	NC_000076.6:g.61114096A>G	UniProt
Sgpl1	Q8R0X7	p.Ala427Ser	rs13468561	missense variant	-	NC_000076.6:g.61103140C>A	UniProt
Sgpl1	Q8R0X7	p.Ser21Ala	rs214523475	missense variant	-	NC_000076.6:g.61123441A>C	UniProt
Sgpl1	Q8R0X7	p.Thr24Ile	rs256485679	missense variant	-	NC_000076.6:g.61123431G>A	UniProt
Sgpl1	Q8R0X7	p.Val108Ala	rs864285510	missense variant	-	NC_000076.6:g.61114096A>G	UniProt
Sgpl1	Q8R0X7	p.Ala427Ser	rs13468561	missense variant	-	NC_000076.6:g.61103140C>A	UniProt
Foxe1	Q8R2I0	p.Ala184Thr	rs264901006	missense variant	-	NC_000070.6:g.46344743G>A	UniProt
Foxe1	Q8R2I0	p.Ala212Thr	rs227785467	missense variant	-	NC_000070.6:g.46344827G>A	UniProt
Nabp2	Q8R2Y9	p.Pro175Thr	rs248123655	missense variant	-	NC_000076.6:g.128401840G>T	UniProt
Nabp2	Q8R2Y9	p.Ile180Thr	rs230073469	missense variant	-	NC_000076.6:g.128401824A>G	UniProt
Nabp2	Q8R2Y9	p.Pro175Thr	rs248123655	missense variant	-	NC_000076.6:g.128401840G>T	UniProt
Nabp2	Q8R2Y9	p.Ile180Thr	rs230073469	missense variant	-	NC_000076.6:g.128401824A>G	UniProt
Hs2st1	Q8R3H7	p.Ile75Val	rs244162358	missense variant	-	NC_000069.6:g.144465187T>C	UniProt
Luzp1	Q8R4U7	p.Thr5Ala	rs216977252	missense variant	-	NC_000070.6:g.136540480A>G	UniProt
Luzp1	Q8R4U7	p.Glu297Val	rs259099510	missense variant	-	NC_000070.6:g.136541357A>T	UniProt
Luzp1	Q8R4U7	p.Ala338Val	rs245844568	missense variant	-	NC_000070.6:g.136541480C>T	UniProt
Luzp1	Q8R4U7	p.Val518Gly	rs259086368	missense variant	-	NC_000070.6:g.136542020T>G	UniProt
Luzp1	Q8R4U7	p.Lys527Arg	rs229336070	missense variant	-	NC_000070.6:g.136542047A>G	UniProt
Luzp1	Q8R4U7	p.Ala574Thr	rs236439775	missense variant	-	NC_000070.6:g.136542187G>A	UniProt
Luzp1	Q8R4U7	p.Thr585Ala	rs256622499	missense variant	-	NC_000070.6:g.136542220A>G	UniProt
Luzp1	Q8R4U7	p.Ile602Val	rs214447707	missense variant	-	NC_000070.6:g.136542271A>G	UniProt
Luzp1	Q8R4U7	p.Pro607Leu	rs235979478	missense variant	-	NC_000070.6:g.136542287C>T	UniProt
Luzp1	Q8R4U7	p.Ile729Val	rs236087837	missense variant	-	NC_000070.6:g.136542652A>G	UniProt
Luzp1	Q8R4U7	p.Gln742Leu	rs252769476	missense variant	-	NC_000070.6:g.136542692A>T	UniProt
Luzp1	Q8R4U7	p.Leu779Ser	rs220302155	missense variant	-	NC_000070.6:g.136542803T>C	UniProt
Luzp1	Q8R4U7	p.Ser911Thr	rs587456465	missense variant	-	NC_000070.6:g.136543199G>C	UniProt
Luzp1	Q8R4U7	p.Gly935Arg	rs46739556	missense variant	-	NC_000070.6:g.136543270G>C	UniProt
Luzp1	Q8R4U7	p.Pro950Ser	rs244043493	missense variant	-	NC_000070.6:g.136543315C>T	UniProt
Luzp1	Q8R4U7	p.Cys951Ser	rs262720802	missense variant	-	NC_000070.6:g.136543319G>C	UniProt
Luzp1	Q8R4U7	p.Cys951Arg	rs236038597	missense variant	-	NC_000070.6:g.136543318T>C	UniProt
Luzp1	Q8R4U7	p.Thr952Ser	rs580697239	missense variant	-	NC_000070.6:g.136543321A>T	UniProt
Luzp1	Q8R4U7	p.Gln963His	rs45976657	missense variant	-	NC_000070.6:g.136543356G>C	UniProt
Luzp1	Q8R4U7	p.Gly968Asp	rs257879728	missense variant	-	NC_000070.6:g.136543370G>A	UniProt
Luzp1	Q8R4U7	p.Arg971Lys	rs47242903	missense variant	-	NC_000070.6:g.136543379G>A	UniProt
Luzp1	Q8R4U7	p.Asn974Ser	rs47176166	missense variant	-	NC_000070.6:g.136543388A>G	UniProt
Luzp1	Q8R4U7	p.Leu981Arg	rs51908269	missense variant	-	NC_000070.6:g.136543409T>G	UniProt
Luzp1	Q8R4U7	p.Pro983Ser	rs47633350	missense variant	-	NC_000070.6:g.136543414C>T	UniProt
Luzp1	Q8R4U7	p.Asp1000Asn	rs261744631	missense variant	-	NC_000070.6:g.136543465G>A	UniProt
Luzp1	Q8R4U7	p.Gly1004Asp	rs248286014	missense variant	-	NC_000070.6:g.136543478G>A	UniProt
Luzp1	Q8R4U7	p.Cys1011Trp	rs46341811	missense variant	-	NC_000070.6:g.136543500C>G	UniProt
Luzp1	Q8R4U7	p.Thr5Ala	rs216977252	missense variant	-	NC_000070.6:g.136540480A>G	UniProt
Luzp1	Q8R4U7	p.Glu297Val	rs259099510	missense variant	-	NC_000070.6:g.136541357A>T	UniProt
Luzp1	Q8R4U7	p.Ala338Val	rs245844568	missense variant	-	NC_000070.6:g.136541480C>T	UniProt
Luzp1	Q8R4U7	p.Val518Gly	rs259086368	missense variant	-	NC_000070.6:g.136542020T>G	UniProt
Luzp1	Q8R4U7	p.Lys527Arg	rs229336070	missense variant	-	NC_000070.6:g.136542047A>G	UniProt
Luzp1	Q8R4U7	p.Ala574Thr	rs236439775	missense variant	-	NC_000070.6:g.136542187G>A	UniProt
Luzp1	Q8R4U7	p.Thr585Ala	rs256622499	missense variant	-	NC_000070.6:g.136542220A>G	UniProt
Luzp1	Q8R4U7	p.Ile602Val	rs214447707	missense variant	-	NC_000070.6:g.136542271A>G	UniProt
Luzp1	Q8R4U7	p.Pro607Leu	rs235979478	missense variant	-	NC_000070.6:g.136542287C>T	UniProt
Luzp1	Q8R4U7	p.Ile729Val	rs236087837	missense variant	-	NC_000070.6:g.136542652A>G	UniProt
Luzp1	Q8R4U7	p.Gln742Leu	rs252769476	missense variant	-	NC_000070.6:g.136542692A>T	UniProt
Luzp1	Q8R4U7	p.Leu779Ser	rs220302155	missense variant	-	NC_000070.6:g.136542803T>C	UniProt
Luzp1	Q8R4U7	p.Ser911Thr	rs587456465	missense variant	-	NC_000070.6:g.136543199G>C	UniProt
Luzp1	Q8R4U7	p.Gly935Arg	rs46739556	missense variant	-	NC_000070.6:g.136543270G>C	UniProt
Luzp1	Q8R4U7	p.Pro950Ser	rs244043493	missense variant	-	NC_000070.6:g.136543315C>T	UniProt
Luzp1	Q8R4U7	p.Cys951Arg	rs236038597	missense variant	-	NC_000070.6:g.136543318T>C	UniProt
Luzp1	Q8R4U7	p.Cys951Ser	rs262720802	missense variant	-	NC_000070.6:g.136543319G>C	UniProt
Luzp1	Q8R4U7	p.Thr952Ser	rs580697239	missense variant	-	NC_000070.6:g.136543321A>T	UniProt
Luzp1	Q8R4U7	p.Gln963His	rs45976657	missense variant	-	NC_000070.6:g.136543356G>C	UniProt
Luzp1	Q8R4U7	p.Gly968Asp	rs257879728	missense variant	-	NC_000070.6:g.136543370G>A	UniProt
Luzp1	Q8R4U7	p.Arg971Lys	rs47242903	missense variant	-	NC_000070.6:g.136543379G>A	UniProt
Luzp1	Q8R4U7	p.Asn974Ser	rs47176166	missense variant	-	NC_000070.6:g.136543388A>G	UniProt
Luzp1	Q8R4U7	p.Leu981Arg	rs51908269	missense variant	-	NC_000070.6:g.136543409T>G	UniProt
Luzp1	Q8R4U7	p.Pro983Ser	rs47633350	missense variant	-	NC_000070.6:g.136543414C>T	UniProt
Luzp1	Q8R4U7	p.Asp1000Asn	rs261744631	missense variant	-	NC_000070.6:g.136543465G>A	UniProt
Luzp1	Q8R4U7	p.Gly1004Asp	rs248286014	missense variant	-	NC_000070.6:g.136543478G>A	UniProt
Luzp1	Q8R4U7	p.Cys1011Trp	rs46341811	missense variant	-	NC_000070.6:g.136543500C>G	UniProt
Luzp1	Q8R4U7	p.Thr5Ala	rs216977252	missense variant	-	NC_000070.6:g.136540480A>G	UniProt
Luzp1	Q8R4U7	p.Glu297Val	rs259099510	missense variant	-	NC_000070.6:g.136541357A>T	UniProt
Luzp1	Q8R4U7	p.Ala338Val	rs245844568	missense variant	-	NC_000070.6:g.136541480C>T	UniProt
Luzp1	Q8R4U7	p.Val518Gly	rs259086368	missense variant	-	NC_000070.6:g.136542020T>G	UniProt
Luzp1	Q8R4U7	p.Lys527Arg	rs229336070	missense variant	-	NC_000070.6:g.136542047A>G	UniProt
Luzp1	Q8R4U7	p.Ala574Thr	rs236439775	missense variant	-	NC_000070.6:g.136542187G>A	UniProt
Luzp1	Q8R4U7	p.Thr585Ala	rs256622499	missense variant	-	NC_000070.6:g.136542220A>G	UniProt
Luzp1	Q8R4U7	p.Ile602Val	rs214447707	missense variant	-	NC_000070.6:g.136542271A>G	UniProt
Luzp1	Q8R4U7	p.Pro607Leu	rs235979478	missense variant	-	NC_000070.6:g.136542287C>T	UniProt
Luzp1	Q8R4U7	p.Ile729Val	rs236087837	missense variant	-	NC_000070.6:g.136542652A>G	UniProt
Luzp1	Q8R4U7	p.Gln742Leu	rs252769476	missense variant	-	NC_000070.6:g.136542692A>T	UniProt
Luzp1	Q8R4U7	p.Leu779Ser	rs220302155	missense variant	-	NC_000070.6:g.136542803T>C	UniProt
Luzp1	Q8R4U7	p.Ser911Thr	rs587456465	missense variant	-	NC_000070.6:g.136543199G>C	UniProt
Luzp1	Q8R4U7	p.Gly935Arg	rs46739556	missense variant	-	NC_000070.6:g.136543270G>C	UniProt
Luzp1	Q8R4U7	p.Pro950Ser	rs244043493	missense variant	-	NC_000070.6:g.136543315C>T	UniProt
Luzp1	Q8R4U7	p.Cys951Ser	rs262720802	missense variant	-	NC_000070.6:g.136543319G>C	UniProt
Luzp1	Q8R4U7	p.Cys951Arg	rs236038597	missense variant	-	NC_000070.6:g.136543318T>C	UniProt
Luzp1	Q8R4U7	p.Thr952Ser	rs580697239	missense variant	-	NC_000070.6:g.136543321A>T	UniProt
Luzp1	Q8R4U7	p.Gln963His	rs45976657	missense variant	-	NC_000070.6:g.136543356G>C	UniProt
Luzp1	Q8R4U7	p.Gly968Asp	rs257879728	missense variant	-	NC_000070.6:g.136543370G>A	UniProt
Luzp1	Q8R4U7	p.Arg971Lys	rs47242903	missense variant	-	NC_000070.6:g.136543379G>A	UniProt
Luzp1	Q8R4U7	p.Asn974Ser	rs47176166	missense variant	-	NC_000070.6:g.136543388A>G	UniProt
Luzp1	Q8R4U7	p.Leu981Arg	rs51908269	missense variant	-	NC_000070.6:g.136543409T>G	UniProt
Luzp1	Q8R4U7	p.Pro983Ser	rs47633350	missense variant	-	NC_000070.6:g.136543414C>T	UniProt
Luzp1	Q8R4U7	p.Asp1000Asn	rs261744631	missense variant	-	NC_000070.6:g.136543465G>A	UniProt
Luzp1	Q8R4U7	p.Gly1004Asp	rs248286014	missense variant	-	NC_000070.6:g.136543478G>A	UniProt
Luzp1	Q8R4U7	p.Cys1011Trp	rs46341811	missense variant	-	NC_000070.6:g.136543500C>G	UniProt
Luzp1	Q8R4U7	p.Thr5Ala	rs216977252	missense variant	-	NC_000070.6:g.136540480A>G	UniProt
Luzp1	Q8R4U7	p.Glu297Val	rs259099510	missense variant	-	NC_000070.6:g.136541357A>T	UniProt
Luzp1	Q8R4U7	p.Ala338Val	rs245844568	missense variant	-	NC_000070.6:g.136541480C>T	UniProt
Luzp1	Q8R4U7	p.Val518Gly	rs259086368	missense variant	-	NC_000070.6:g.136542020T>G	UniProt
Luzp1	Q8R4U7	p.Lys527Arg	rs229336070	missense variant	-	NC_000070.6:g.136542047A>G	UniProt
Luzp1	Q8R4U7	p.Ala574Thr	rs236439775	missense variant	-	NC_000070.6:g.136542187G>A	UniProt
Luzp1	Q8R4U7	p.Thr585Ala	rs256622499	missense variant	-	NC_000070.6:g.136542220A>G	UniProt
Luzp1	Q8R4U7	p.Ile602Val	rs214447707	missense variant	-	NC_000070.6:g.136542271A>G	UniProt
Luzp1	Q8R4U7	p.Pro607Leu	rs235979478	missense variant	-	NC_000070.6:g.136542287C>T	UniProt
Luzp1	Q8R4U7	p.Ile729Val	rs236087837	missense variant	-	NC_000070.6:g.136542652A>G	UniProt
Luzp1	Q8R4U7	p.Gln742Leu	rs252769476	missense variant	-	NC_000070.6:g.136542692A>T	UniProt
Luzp1	Q8R4U7	p.Leu779Ser	rs220302155	missense variant	-	NC_000070.6:g.136542803T>C	UniProt
Luzp1	Q8R4U7	p.Ser911Thr	rs587456465	missense variant	-	NC_000070.6:g.136543199G>C	UniProt
Luzp1	Q8R4U7	p.Gly935Arg	rs46739556	missense variant	-	NC_000070.6:g.136543270G>C	UniProt
Luzp1	Q8R4U7	p.Pro950Ser	rs244043493	missense variant	-	NC_000070.6:g.136543315C>T	UniProt
Luzp1	Q8R4U7	p.Cys951Arg	rs236038597	missense variant	-	NC_000070.6:g.136543318T>C	UniProt
Luzp1	Q8R4U7	p.Cys951Ser	rs262720802	missense variant	-	NC_000070.6:g.136543319G>C	UniProt
Luzp1	Q8R4U7	p.Thr952Ser	rs580697239	missense variant	-	NC_000070.6:g.136543321A>T	UniProt
Luzp1	Q8R4U7	p.Gln963His	rs45976657	missense variant	-	NC_000070.6:g.136543356G>C	UniProt
Luzp1	Q8R4U7	p.Gly968Asp	rs257879728	missense variant	-	NC_000070.6:g.136543370G>A	UniProt
Luzp1	Q8R4U7	p.Arg971Lys	rs47242903	missense variant	-	NC_000070.6:g.136543379G>A	UniProt
Luzp1	Q8R4U7	p.Asn974Ser	rs47176166	missense variant	-	NC_000070.6:g.136543388A>G	UniProt
Luzp1	Q8R4U7	p.Leu981Arg	rs51908269	missense variant	-	NC_000070.6:g.136543409T>G	UniProt
Luzp1	Q8R4U7	p.Pro983Ser	rs47633350	missense variant	-	NC_000070.6:g.136543414C>T	UniProt
Luzp1	Q8R4U7	p.Asp1000Asn	rs261744631	missense variant	-	NC_000070.6:g.136543465G>A	UniProt
Luzp1	Q8R4U7	p.Gly1004Asp	rs248286014	missense variant	-	NC_000070.6:g.136543478G>A	UniProt
Luzp1	Q8R4U7	p.Cys1011Trp	rs46341811	missense variant	-	NC_000070.6:g.136543500C>G	UniProt
Fbxw7	Q8VBV4	p.Asn63Asp	rs3683473	missense variant	-	NC_000069.6:g.84903756A>G	UniProt
Fbxw7	Q8VBV4	p.Thr72Ser	rs234454402	missense variant	-	NC_000069.6:g.84903783A>T	UniProt
Fbxw7	Q8VBV4	p.Asp132Val	rs32721406	missense variant	-	NC_000069.6:g.84903964A>T	UniProt
Fbxw7	Q8VBV4	p.Thr200Ala	rs32729022	missense variant	-	NC_000069.6:g.84958508A>G	UniProt
Fbxw7	Q8VBV4	p.Asn63Asp	rs3683473	missense variant	-	NC_000069.6:g.84903756A>G	UniProt
Fbxw7	Q8VBV4	p.Thr72Ser	rs234454402	missense variant	-	NC_000069.6:g.84903783A>T	UniProt
Fbxw7	Q8VBV4	p.Asp132Val	rs32721406	missense variant	-	NC_000069.6:g.84903964A>T	UniProt
Fbxw7	Q8VBV4	p.Thr200Ala	rs32729022	missense variant	-	NC_000069.6:g.84958508A>G	UniProt
Clptm1	Q8VBZ3	p.Gly84Ser	rs49132140	missense variant	-	NC_000073.6:g.19646775C>T	UniProt
Clptm1	Q8VBZ3	p.Val440Ile	rs13471961	missense variant	-	NC_000073.6:g.19635666C>T	UniProt
Rdh10	Q8VCH7	p.His191Gln	rs864280080	missense variant	-	NC_000067.6:g.16128212C>A	UniProt
Rdh10	Q8VCH7	p.Arg278Lys	rs253688061	missense variant	-	NC_000067.6:g.16131137G>A	UniProt
Rdh10	Q8VCH7	p.Val287Ile	rs242960724	missense variant	-	NC_000067.6:g.16131163G>A	UniProt
Tgds	Q8VDR7	p.Arg9Ser	rs246402071	missense variant	-	NC_000080.6:g.118132705G>T	UniProt
Tgds	Q8VDR7	p.Asn127Ser	rs217252849	missense variant	-	NC_000080.6:g.118121795T>C	UniProt
Tgds	Q8VDR7	p.Gly133Arg	rs50973323	missense variant	-	NC_000080.6:g.118121778C>T	UniProt
Stx18	Q8VDS8	p.His112Gln	rs37912736	missense variant	-	NC_000071.6:g.38104977T>G	UniProt
Stx18	Q8VDS8	p.Ala185Gly	rs231426486	missense variant	-	NC_000071.6:g.38116141C>G	UniProt
Stx18	Q8VDS8	p.Ala189Val	rs36267713	missense variant	-	NC_000071.6:g.38116153C>T	UniProt
Stx18	Q8VDS8	p.Lys272Thr	rs1133786780	missense variant	-	NC_000071.6:g.38128100A>C	UniProt
Lrp4	Q8VI56	p.Thr412Ser	rs6214094	missense variant	-	NC_000068.7:g.91477149C>G	UniProt
Lrp4	Q8VI56	p.Gly1093GlyValTer	rs218013490	stop gained	-	NC_000068.7:g.91492107_91492112dup	UniProt
Lrp4	Q8VI56	p.Val1249Leu	rs233382391	missense variant	-	NC_000068.7:g.91494066G>C	UniProt
Lrp4	Q8VI56	p.His1396Asp	rs220479174	missense variant	-	NC_000068.7:g.91495017C>G	UniProt
Lrp4	Q8VI56	p.Ser1586Leu	rs27420830	missense variant	-	NC_000068.7:g.91501053C>T	UniProt
Lrp4	Q8VI56	p.Ser1663Asn	rs27420822	missense variant	-	NC_000068.7:g.91501947G>A	UniProt
Lrp4	Q8VI56	p.Ala1742Ser	rs27420815	missense variant	-	NC_000068.7:g.91506069G>T	UniProt
Recql5	Q8VID5	p.Ala45Thr	rs252974916	missense variant	-	NC_000077.6:g.115930796C>T	UniProt
Recql5	Q8VID5	p.Ile72Val	rs213619969	missense variant	-	NC_000077.6:g.115930715T>C	UniProt
Recql5	Q8VID5	p.Ala136Ser	rs243195060	missense variant	-	NC_000077.6:g.115928333C>A	UniProt
Recql5	Q8VID5	p.Ser144Phe	rs27001508	missense variant	-	NC_000077.6:g.115928308G>A	UniProt
Recql5	Q8VID5	p.Val213Ile	rs233543789	missense variant	-	NC_000077.6:g.115928102C>T	UniProt
Recql5	Q8VID5	p.Glu308Gly	rs231442499	missense variant	-	NC_000077.6:g.115925473T>C	UniProt
Recql5	Q8VID5	p.Ala429Thr	rs219833403	missense variant	-	NC_000077.6:g.115897207C>T	UniProt
Recql5	Q8VID5	p.Gly466Asp	rs27001573	missense variant	-	NC_000077.6:g.115897095C>T	UniProt
Recql5	Q8VID5	p.Met621Ile	rs237190667	missense variant	-	NC_000077.6:g.115895083C>T	UniProt
Recql5	Q8VID5	p.Val656Ile	rs29463079	missense variant	-	NC_000077.6:g.115894703C>T	UniProt
Recql5	Q8VID5	p.Met687Val	rs239980732	missense variant	-	NC_000077.6:g.115894610T>C	UniProt
Recql5	Q8VID5	p.Lys716Glu	rs245755026	missense variant	-	NC_000077.6:g.115894523T>C	UniProt
Recql5	Q8VID5	p.Ser773Cys	rs213011562	missense variant	-	NC_000077.6:g.115894351G>C	UniProt
Recql5	Q8VID5	p.Arg819Met	rs243727886	missense variant	-	NC_000077.6:g.115894213C>A	UniProt
Recql5	Q8VID5	p.Asp876Gly	rs263251929	missense variant	-	NC_000077.6:g.115893646T>C	UniProt
Nprl3	Q8VIJ8	p.Ser31Asn	rs246904851	missense variant	-	NC_000077.6:g.32267449C>T	UniProt
Nprl3	Q8VIJ8	p.Pro244Leu	rs245397011	missense variant	-	NC_000077.6:g.32241834G>A	UniProt
Nprl3	Q8VIJ8	p.Met336Leu	rs29480004	missense variant	-	NC_000077.6:g.32237325T>G	UniProt
Nprl3	Q8VIJ8	p.Leu423Gln	rs26841209	missense variant	-	NC_000077.6:g.32234815A>T	UniProt
Nprl3	Q8VIJ8	p.Arg548His	rs249784571	missense variant	-	NC_000077.6:g.32233018C>T	UniProt
Slc12a5	Q91V14	p.Ala16Val	rs264829746	missense variant	-	NC_000068.7:g.164960929C>T	UniProt
Slc12a5	Q91V14	p.Arg33Leu	rs242758214	missense variant	-	NC_000068.7:g.164960980G>T	UniProt
Slc12a5	Q91V14	p.Pro35Ser	rs260638796	missense variant	-	NC_000068.7:g.164960985C>T	UniProt
Slc12a5	Q91V14	p.Arg319His	rs33529823	missense variant	-	NC_000068.7:g.164980187G>A	UniProt
Slc12a5	Q91V14	p.Arg975His	rs234735351	missense variant	-	NC_000068.7:g.164996174G>A	UniProt
Kiss1r	Q91V45	p.Pro16Gln	rs265116825	missense variant	-	NC_000076.6:g.79918720C>A	UniProt
Kiss1r	Q91V45	p.Val27Ala	rs240698140	missense variant	-	NC_000076.6:g.79918753T>C	UniProt
Kiss1r	Q91V45	p.Asp32Asn	rs260168130	missense variant	-	NC_000076.6:g.79918767G>A	UniProt
Kiss1r	Q91V45	p.Val58Ile	rs228779902	missense variant	-	NC_000076.6:g.79918845G>A	UniProt
Kiss1r	Q91V45	p.Ala107Thr	rs237332587	missense variant	-	NC_000076.6:g.79919501G>A	UniProt
Kiss1r	Q91V45	p.Val304Ile	rs47100285	missense variant	-	NC_000076.6:g.79921723G>A	UniProt
Kiss1r	Q91V45	p.Ala357Val	rs225781624	missense variant	-	NC_000076.6:g.79921883C>T	UniProt
Kiss1r	Q91V45	p.Ser365Asn	rs245021019	missense variant	-	NC_000076.6:g.79921907G>A	UniProt
Gldc	Q91W43	p.Gln32Pro	rs226903273	missense variant	-	NC_000085.6:g.30175166T>G	UniProt
Gldc	Q91W43	p.Gly40Ser	rs253987372	missense variant	-	NC_000085.6:g.30175143C>T	UniProt
Gldc	Q91W43	p.Val226Ile	rs218597866	missense variant	-	NC_000085.6:g.30147221C>T	UniProt
Gldc	Q91W43	p.Ser782Thr	rs222361193	missense variant	-	NC_000085.6:g.30113849C>G	UniProt
Gldc	Q91W43	p.Glu882Asp	rs253988581	missense variant	-	NC_000085.6:g.30103013C>A	UniProt
Hkdc1	Q91W97	p.Asn142Asp	rs257569288	missense variant	-	NC_000076.6:g.62411578T>C	UniProt
Hkdc1	Q91W97	p.Val576Ile	rs249182989	missense variant	-	NC_000076.6:g.62398689C>T	UniProt
Insig2	Q91WG1	p.Ser25Arg	rs13472673	missense variant	-	NC_000067.6:g.121319766A>T	UniProt
Insig2	Q91WG1	p.Ser25Arg	rs13472673	missense variant	-	NC_000067.6:g.121319766A>T	UniProt
Insig2	Q91WG1	p.Ser25Arg	rs13472673	missense variant	-	NC_000067.6:g.121319766A>T	UniProt
Insig2	Q91WG1	p.Ser25Arg	rs13472673	missense variant	-	NC_000067.6:g.121319766A>T	UniProt
Bhmt2	Q91WS4	p.Ser27Gly	rs13473372	missense variant	-	NC_000079.6:g.93671500T>C	UniProt
Bhmt2	Q91WS4	p.Gly28Ser	rs29946489	missense variant	-	NC_000079.6:g.93671497C>T	UniProt
Bhmt2	Q91WS4	p.Arg36Gly	rs13473373	missense variant	-	NC_000079.6:g.93671473T>C	UniProt
Bhmt2	Q91WS4	p.Ala93Val	rs48946629	missense variant	-	NC_000079.6:g.93666746G>A	UniProt
Bhmt2	Q91WS4	p.Arg133Gln	rs29718146	missense variant	-	NC_000079.6:g.93666626C>T	UniProt
Bhmt2	Q91WS4	p.Leu347Pro	rs1134636996	missense variant	-	NC_000079.6:g.93657115A>G	UniProt
Bhmt2	Q91WS4	p.Pro361Ser	rs261273775	missense variant	-	NC_000079.6:g.93657074G>A	UniProt
Bhmt2	Q91WS4	p.Ter364GlyLeuCseGluUnkThrThrGluArgUnkUnk	rs47528308	stop lost	-	NC_000079.6:g.93657065A>C	UniProt
Vangl2	Q91ZD4	p.Asp255Glu		Missense	-	-	UniProt
Vangl2	Q91ZD4	p.Asp335Gly	rs864255754	missense variant	-	NC_000067.6:g.172007980T>C	UniProt
Vangl2	Q91ZD4	p.Ser464Asn		Missense	-	-	UniProt
Vangl2	Q91ZD4	p.Asp255Glu		Missense	-	-	UniProt
Vangl2	Q91ZD4	p.Asp335Gly	rs864255754	missense variant	-	NC_000067.6:g.172007980T>C	UniProt
Vangl2	Q91ZD4	p.Ser464Asn		Missense	-	-	UniProt
Adgra2	Q91ZV8	p.Gly70Ser	rs33296402	missense variant	-	NC_000074.6:g.27086153G>A	UniProt
Adgra2	Q91ZV8	p.Arg160Lys	rs37720642	missense variant	-	NC_000074.6:g.27109769G>A	UniProt
Adgra2	Q91ZV8	p.Pro529Ser	rs222541860	missense variant	-	NC_000074.6:g.27114483C>T	UniProt
Adgra2	Q91ZV8	p.Ala571Thr	rs254952163	missense variant	-	NC_000074.6:g.27115339G>A	UniProt
Adgra2	Q91ZV8	p.Ala571Val	rs37839396	missense variant	-	NC_000074.6:g.27115340C>T	UniProt
Adgra2	Q91ZV8	p.Val576Ile	rs37379045	missense variant	-	NC_000074.6:g.27115354G>A	UniProt
Adgra2	Q91ZV8	p.Pro586Thr	rs36987980	missense variant	-	NC_000074.6:g.27115384C>A	UniProt
Adgra2	Q91ZV8	p.Leu869Pro	rs228374772	missense variant	-	NC_000074.6:g.27119806T>C	UniProt
Adgra2	Q91ZV8	p.Glu873Asp	rs242494948	missense variant	-	NC_000074.6:g.27119819A>T	UniProt
Adgra2	Q91ZV8	p.Ser963Cys	rs37026585	missense variant	-	NC_000074.6:g.27120912C>G	UniProt
Adgra2	Q91ZV8	p.Glu965Asp	rs256913110	missense variant	-	NC_000074.6:g.27120919G>C	UniProt
Adgra2	Q91ZV8	p.Gly980Ser	rs1134066828	missense variant	-	NC_000074.6:g.27120962G>A	UniProt
Adgra2	Q91ZV8	p.Asn984Ser	rs36446584	missense variant	-	NC_000074.6:g.27120975A>G	UniProt
Adgra2	Q91ZV8	p.Ala1031Val	rs229725481	missense variant	-	NC_000074.6:g.27121116C>T	UniProt
Adgra2	Q91ZV8	p.Ala1145Pro	rs37793387	missense variant	-	NC_000074.6:g.27121457G>C	UniProt
Adgra2	Q91ZV8	p.Ala1165Val	rs222472942	missense variant	-	NC_000074.6:g.27121518C>T	UniProt
Adgra2	Q91ZV8	p.Ser1271Cys	rs224525258	missense variant	-	NC_000074.6:g.27121835A>T	UniProt
Krt5	Q922U2	p.Gly122Trp	rs387436779	missense variant	-	NC_000081.6:g.101712447C>A	UniProt
Krt5	Q922U2	p.Val139Ile	rs13463109	missense variant	-	NC_000081.6:g.101712396C>T	UniProt
Mmp3	Q922W6	p.Ala47Thr	rs216368812	missense variant	-	NC_000075.6:g.7446960G>A	UniProt
Mmp3	Q922W6	p.Leu61Pro	rs242615295	missense variant	-	NC_000075.6:g.7447003T>C	UniProt
Mmp3	Q922W6	p.Ile62Val	rs248849320	missense variant	-	NC_000075.6:g.7447005A>G	UniProt
Mmp3	Q922W6	p.Ala234Thr	rs226506552	missense variant	-	NC_000075.6:g.7449817G>A	UniProt
Mmp3	Q922W6	p.Ser249Thr	rs37588431	missense variant	-	NC_000075.6:g.7449862T>A	UniProt
Mmp3	Q922W6	p.Arg250His	rs261953468	missense variant	-	NC_000075.6:g.7449866G>A	UniProt
Mmp3	Q922W6	p.Met342Ile	rs580168328	missense variant	-	NC_000075.6:g.7451291G>A	UniProt
Mmp3	Q922W6	p.Arg400Lys	rs38234638	missense variant	-	NC_000075.6:g.7451862G>A	UniProt
Bco2	Q99NF1	p.Val133Ile	rs32736935	missense variant	-	NC_000075.6:g.50545442C>T	UniProt
Bco2	Q99NF1	p.Ile262Val	rs225581531	missense variant	-	NC_000075.6:g.50540198T>C	UniProt
Bco2	Q99NF1	p.Met300Ile	rs219907464	missense variant	-	NC_000075.6:g.50538999C>A	UniProt
Bco2	Q99NF1	p.Ala374Thr	rs6386944	missense variant	-	NC_000075.6:g.50536302C>T	UniProt
Bco2	Q99NF1	p.Ala375Pro	rs6386942	missense variant	-	NC_000075.6:g.50536299C>G	UniProt
Bco2	Q99NF1	p.Ala375Gly	rs32738891	missense variant	-	NC_000075.6:g.50536298G>C	UniProt
Bco2	Q99NF1	p.Ile416Val	rs212805979	missense variant	-	NC_000075.6:g.50535606T>C	UniProt
Bco2	Q99NF1	p.Lys430Asn	rs32738886	missense variant	-	NC_000075.6:g.50535562C>A	UniProt
Bco2	Q99NF1	p.Ser498Asn	rs32736774	missense variant	-	NC_000075.6:g.50533512C>T	UniProt
Bco2	Q99NF1	p.Pro518Ser	rs218613849	missense variant	-	NC_000075.6:g.50533453G>A	UniProt
Tmem107	Q9CPV0	p.Lys40Thr	rs258351115	missense variant	-	NC_000077.6:g.69071255A>C	UniProt
Tmem107	Q9CPV0	p.Glu125Gly		Missense	-	-	UniProt
Sostdc1	Q9CQN4	p.Cys15Ser	rs108407232	missense variant	-	NC_000078.6:g.36314337G>C	UniProt
Sostdc1	Q9CQN4	p.Met18Thr	rs108714884	missense variant	-	NC_000078.6:g.36314346T>C	UniProt
E2f1	Q9CYB4	p.Lys3Thr	rs1134882951	missense variant	-	NC_000068.7:g.154569170T>G	UniProt
Mmachc	Q9CZD0	p.Leu249His	rs27514039	missense variant	-	NC_000070.6:g.116703551A>T	UniProt
Pygo1	Q9D0P5	p.Ser221Pro	rs252457541	missense variant	-	NC_000075.6:g.72945193T>C	UniProt
Pygo1	Q9D0P5	p.Val281Ala	rs261307372	missense variant	-	NC_000075.6:g.72945374T>C	UniProt
Mrpl53	Q9D1H8	p.Met86Leu	rs244363111	missense variant	-	NC_000072.6:g.83109572A>C	UniProt
Mrpl53	Q9D1H8	p.Ala100Val	rs265522876	missense variant	-	NC_000072.6:g.83109615C>T	UniProt
Nosip	Q9D6T0	p.Val151Ile	rs235023430	missense variant	-	NC_000073.6:g.45076342G>A	UniProt
Nosip	Q9D6T0	p.Asp207Asn	rs238199691	missense variant	-	NC_000073.6:g.45076633G>A	UniProt
Ovca2	Q9D7E3	p.Thr32Ala	rs13464809	missense variant	-	NC_000077.6:g.75178702T>C	UniProt
Ovca2	Q9D7E3	p.Leu109Gln	rs234783354	missense variant	-	NC_000077.6:g.75178246A>T	UniProt
Ovca2	Q9D7E3	p.Pro153Leu	rs223080944	missense variant	-	NC_000077.6:g.75178114G>A	UniProt
Ap2b1	Q9DBG3	p.Phe469Leu	rs28210244	missense variant	-	NC_000077.6:g.83341409C>G	UniProt
Ap2b1	Q9DBG3	p.Ala602Thr	rs29405321	missense variant	-	NC_000077.6:g.83350986G>A	UniProt
Ap2b1	Q9DBG3	p.Thr609Asn	rs224278132	missense variant	-	NC_000077.6:g.83351008C>A	UniProt
Akap8	Q9DBR0	p.Gly151Ser	rs249702582	missense variant	-	NC_000083.6:g.32316588C>T	UniProt
Akap8	Q9DBR0	p.Ala594Glu	rs243633254	missense variant	-	NC_000083.6:g.32305540G>T	UniProt
Akap8	Q9DBR0	p.Asp597Glu	rs226628501	missense variant	-	NC_000083.6:g.32305530G>T	UniProt
Akap8	Q9DBR0	p.Leu599Pro	rs257950042	missense variant	-	NC_000083.6:g.32305525A>G	UniProt
Akap8	Q9DBR0	p.Ala628Thr	rs253510579	missense variant	-	NC_000083.6:g.32305439C>T	UniProt
Akap8	Q9DBR0	p.Ser634Asn	rs48957564	missense variant	-	NC_000083.6:g.32305420C>T	UniProt
Akap8	Q9DBR0	p.Ala657Thr	rs47607754	missense variant	-	NC_000083.6:g.32305352C>T	UniProt
Pmpca	Q9DC61	p.Asp164Gly	rs218719524	missense variant	-	NC_000068.7:g.26391140A>G	UniProt
Pmpca	Q9DC61	p.Tyr383Ter	rs1133297829	stop gained	-	NC_000068.7:g.26393339T>A	UniProt
Pmpca	Q9DC61	p.Asp385His	rs1134260645	missense variant	-	NC_000068.7:g.26393343G>C	UniProt
Pmpca	Q9DC61	p.Ser394Arg	rs1134827924	missense variant	-	NC_000068.7:g.26393372C>G	UniProt
Pmpca	Q9DC61	p.Asn513Asp	rs27202002	missense variant	-	NC_000068.7:g.26395550A>G	UniProt
Pak1ip1	Q9DCE5	p.Lys23Arg	rs234948756	missense variant	-	NC_000079.6:g.41001397A>G	UniProt
Pak1ip1	Q9DCE5	p.Ser50Ala	rs239065493	missense variant	-	NC_000079.6:g.41004800T>G	UniProt
Pak1ip1	Q9DCE5	p.Asn93Ser	rs249705015	missense variant	-	NC_000079.6:g.41008046A>G	UniProt
Pak1ip1	Q9DCE5	p.Ala311Ser	rs214118789	missense variant	-	NC_000079.6:g.41012424G>T	UniProt
Pak1ip1	Q9DCE5	p.Thr372Asn	rs260461438	missense variant	-	NC_000079.6:g.41012715C>A	UniProt
Lactb	Q9EP89	p.Ala13Thr	rs243595741	missense variant	-	NC_000075.6:g.66975355C>T	UniProt
Lactb	Q9EP89	p.Pro31Leu	rs237435219	missense variant	-	NC_000075.6:g.66975300G>A	UniProt
Lactb	Q9EP89	p.Gly76Ser	rs231866540	missense variant	-	NC_000075.6:g.66975166C>T	UniProt
Lactb	Q9EP89	p.Pro88Leu	rs387389700	missense variant	-	NC_000075.6:g.66975129G>A	UniProt
Lactb	Q9EP89	p.Arg110Gly	rs387840413	missense variant	-	NC_000075.6:g.66975064G>C	UniProt
Lactb	Q9EP89	p.Ser247Pro	rs222103345	missense variant	-	NC_000075.6:g.66970807A>G	UniProt
Lactb	Q9EP89	p.Ala266Thr	rs241235482	missense variant	-	NC_000075.6:g.66970750C>T	UniProt
Lactb	Q9EP89	p.Val271Ala	rs251723400	missense variant	-	NC_000075.6:g.66970734A>G	UniProt
Lactb	Q9EP89	p.Asp508Asn	rs33715056	missense variant	-	NC_000075.6:g.66955809C>T	UniProt
Glce	Q9EPS3	p.Glu178Asp	rs1132218749	missense variant	-	NC_000075.6:g.62070067T>A	UniProt
Glce	Q9EPS3	p.Glu178Lys	rs1132792490	missense variant	-	NC_000075.6:g.62070069C>T	UniProt
Glce	Q9EPS3	p.Ser469Asn	rs220987113	missense variant	-	NC_000075.6:g.62060462C>T	UniProt
Glce	Q9EPS3	p.Ala476Gly	rs255376057	missense variant	-	NC_000075.6:g.62060441G>C	UniProt
Glce	Q9EPS3	p.His485Arg	rs864290759	missense variant	-	NC_000075.6:g.62060414T>C	UniProt
Glce	Q9EPS3	p.Glu178Lys	rs1132792490	missense variant	-	NC_000075.6:g.62070069C>T	UniProt
Glce	Q9EPS3	p.Glu178Asp	rs1132218749	missense variant	-	NC_000075.6:g.62070067T>A	UniProt
Glce	Q9EPS3	p.Ser469Asn	rs220987113	missense variant	-	NC_000075.6:g.62060462C>T	UniProt
Glce	Q9EPS3	p.Ala476Gly	rs255376057	missense variant	-	NC_000075.6:g.62060441G>C	UniProt
Glce	Q9EPS3	p.His485Arg	rs864290759	missense variant	-	NC_000075.6:g.62060414T>C	UniProt
Barx1	Q9ER42	p.Ala137Thr	rs238928568	missense variant	-	NC_000079.6:g.48665211G>A	UniProt
Barx1	Q9ER42	p.Ala241Gly	rs1133699716	missense variant	-	NC_000079.6:g.48665949C>G	UniProt
Jmjd6	Q9ERI5	p.Pro43Ser	rs246320432	missense variant	-	NC_000077.6:g.116843067G>A	UniProt
Jmjd6	Q9ERI5	p.Pro43Gln	rs212725620	missense variant	-	NC_000077.6:g.116843066G>T	UniProt
Jmjd6	Q9ERI5	p.Pro210Leu	rs13464935	missense variant	-	NC_000077.6:g.116841245G>A	UniProt
Fign	Q9ERZ6	p.Glu116Asp	rs244490115	missense variant	-	NC_000068.7:g.63980577T>G	UniProt
Fign	Q9ERZ6	p.Pro384Ser	rs241806257	missense variant	-	NC_000068.7:g.63979775G>A	UniProt
Fign	Q9ERZ6	p.Ile560Leu	rs28038420	missense variant	-	NC_000068.7:g.63979247T>A	UniProt
Anp32b	Q9EST5	p.Glu270Asp	rs240874163	missense variant	-	NC_000070.6:g.46472145A>C	UniProt
Gtf2i	Q9ESZ8	p.Val5Ala	rs13496556	missense variant	-	NC_000071.6:g.134295595A>G	UniProt
Gtf2i	Q9ESZ8	p.Asn500Ser	rs234710952	missense variant	-	NC_000071.6:g.134255945T>C	UniProt
Gtf2i	Q9ESZ8	p.Glu934Asp	rs1134732018	missense variant	-	NC_000071.6:g.134242627C>A	UniProt
Gtf2i	Q9ESZ8	p.Val5Ala	rs13496556	missense variant	-	NC_000071.6:g.134295595A>G	UniProt
Gtf2i	Q9ESZ8	p.Asn500Ser	rs234710952	missense variant	-	NC_000071.6:g.134255945T>C	UniProt
Gtf2i	Q9ESZ8	p.Glu934Asp	rs1134732018	missense variant	-	NC_000071.6:g.134242627C>A	UniProt
Cdk20	Q9JHU3	p.Pro98Ala	rs224523893	missense variant	-	NC_000079.6:g.64436220C>G	UniProt
Cdk20	Q9JHU3	p.Pro154Leu	rs387033213	missense variant	-	NC_000079.6:g.64436575C>T	UniProt
Cdk20	Q9JHU3	p.Ala291Thr	rs259739661	missense variant	-	NC_000079.6:g.64438808G>A	UniProt
Cdk20	Q9JHU3	p.Leu329Ile	rs13481852	missense variant	-	NC_000079.6:g.64438922C>A	UniProt
Aldh1a3	Q9JHW9	p.Ala456Thr	rs33080868	missense variant	-	NC_000073.6:g.66400103C>T	UniProt
Inpp5e	Q9JII1	p.Arg101Gln	rs261363274	missense variant	-	NC_000068.7:g.26408286C>T	UniProt
Inpp5e	Q9JII1	p.Gln104Arg	rs242777637	missense variant	-	NC_000068.7:g.26408277T>C	UniProt
Inpp5e	Q9JII1	p.Ala206Val	rs27201954	missense variant	-	NC_000068.7:g.26407971G>A	UniProt
Inpp5e	Q9JII1	p.Ala465Ser	rs237432879	missense variant	-	NC_000068.7:g.26400039C>A	UniProt
Inpp5e	Q9JII1	p.Arg599Lys	rs27201997	missense variant	-	NC_000068.7:g.26398571C>T	UniProt
Fzd2	Q9JIP6	p.Ser193Ala	rs29383996	missense variant	-	NC_000077.6:g.102605308T>G	UniProt
Lmbr1	Q9JIT0	p.Ser16Cys	rs581025228	missense variant	-	NC_000071.6:g.29378147T>A	UniProt
Lmbr1	Q9JIT0	p.His93Gln	rs6303637	missense variant	-	NC_000071.6:g.29346807G>T	UniProt
Lmbr1	Q9JIT0	p.Asn94Ser	rs218552504	missense variant	-	NC_000071.6:g.29346805T>C	UniProt
Lmbr1	Q9JIT0	p.Ile161Leu	rs259194070	missense variant	-	NC_000071.6:g.29292892T>G	UniProt
Bco1	Q9JJS6	p.Lys10Ile	rs254327219	missense variant	-	NC_000074.6:g.117096059A>T	UniProt
Bco1	Q9JJS6	p.Ser226Pro	rs223727284	missense variant	-	NC_000074.6:g.117113420T>C	UniProt
Bco1	Q9JJS6	p.Asp277Asn	rs257435185	missense variant	-	NC_000074.6:g.117113573G>A	UniProt
Bco1	Q9JJS6	p.Val376Ile	rs213616906	missense variant	-	NC_000074.6:g.117127463G>A	UniProt
Bco1	Q9JJS6	p.Glu402Lys	rs259309404	missense variant	-	NC_000074.6:g.117127541G>A	UniProt
Bco1	Q9JJS6	p.Ala507Val	rs252341158	missense variant	-	NC_000074.6:g.117133079C>T	UniProt
Bco1	Q9JJS6	p.Ala521Glu	rs238929184	missense variant	-	NC_000074.6:g.117133121C>A	UniProt
Bco1	Q9JJS6	p.Gln534Lys	rs244456183	missense variant	-	NC_000074.6:g.117133159C>A	UniProt
Bco1	Q9JJS6	p.Pro542Leu	rs264757793	missense variant	-	NC_000074.6:g.117133184C>T	UniProt
Bco1	Q9JJS6	p.Asp544Gly	rs229277826	missense variant	-	NC_000074.6:g.117133190A>G	UniProt
Stk32b	Q9JJX8	p.Val213Ile	rs51050076	missense variant	-	NC_000071.6:g.37466765C>T	UniProt
Stk32b	Q9JJX8	p.Asn377Asp	rs33607083	missense variant	-	NC_000071.6:g.37448769T>C	UniProt
Nectin1	Q9JKF6	p.Asp165Asn	rs38722061	missense variant	-	NC_000075.6:g.43791939G>A	UniProt
Nectin1	Q9JKF6	p.Ala182Val	rs212703917	missense variant	-	NC_000075.6:g.43791991C>T	UniProt
Nectin1	Q9JKF6	p.Gly428Ser	rs30034385	missense variant	-	NC_000075.6:g.43803750G>A	UniProt
Nectin1	Q9JKF6	p.Tyr479Asn	rs1132903125	missense variant	-	NC_000075.6:g.43803903T>A	UniProt
Ick	Q9JKV2	p.Leu126Val	rs864261050	missense variant	-	NC_000075.6:g.78150546T>G	UniProt
Ick	Q9JKV2	p.Leu126Ser	rs864293638	missense variant	-	NC_000075.6:g.78150547T>C	UniProt
Ick	Q9JKV2	p.His360Arg	rs249783263	missense variant	-	NC_000075.6:g.78157888A>G	UniProt
Ick	Q9JKV2	p.Phe371Cys	rs239084944	missense variant	-	NC_000075.6:g.78157921T>G	UniProt
Ick	Q9JKV2	p.Ser457Pro	rs255060310	missense variant	-	NC_000075.6:g.78160697T>C	UniProt
Ick	Q9JKV2	p.Ser481Ala	rs223698346	missense variant	-	NC_000075.6:g.78160769T>G	UniProt
Ick	Q9JKV2	p.Ala574Val	rs247314453	missense variant	-	NC_000075.6:g.78167018C>T	UniProt
Ick	Q9JKV2	p.Pro603Ala	rs256514070	missense variant	-	NC_000075.6:g.78167671C>G	UniProt
Ick	Q9JKV2	p.Leu126Ser	rs864293638	missense variant	-	NC_000075.6:g.78150547T>C	UniProt
Ick	Q9JKV2	p.Leu126Val	rs864261050	missense variant	-	NC_000075.6:g.78150546T>G	UniProt
Ick	Q9JKV2	p.His360Arg	rs249783263	missense variant	-	NC_000075.6:g.78157888A>G	UniProt
Ick	Q9JKV2	p.Phe371Cys	rs239084944	missense variant	-	NC_000075.6:g.78157921T>G	UniProt
Ick	Q9JKV2	p.Ser457Pro	rs255060310	missense variant	-	NC_000075.6:g.78160697T>C	UniProt
Ick	Q9JKV2	p.Ser481Ala	rs223698346	missense variant	-	NC_000075.6:g.78160769T>G	UniProt
Ick	Q9JKV2	p.Ala574Val	rs247314453	missense variant	-	NC_000075.6:g.78167018C>T	UniProt
Ick	Q9JKV2	p.Pro603Ala	rs256514070	missense variant	-	NC_000075.6:g.78167671C>G	UniProt
Nectin3	Q9JLB9	p.Ser216Thr	rs244475923	missense variant	-	NC_000082.6:g.46458967C>G	UniProt
Chst11	Q9JME2	p.Ile50Ser	rs226550455	missense variant	-	NC_000076.6:g.83092099T>G	UniProt
Phc2	Q9QWH1	p.Ser33Gly	rs248730343	missense variant	-	NC_000070.6:g.128705148A>G	UniProt
Phc2	Q9QWH1	p.Gly35Ser	rs586833917	missense variant	-	NC_000070.6:g.128705154G>A	UniProt
Phc2	Q9QWH1	p.Gly36Ser	rs584296509	missense variant	-	NC_000070.6:g.128705157G>A	UniProt
Phc2	Q9QWH1	p.Ser39Gly	rs227920679	missense variant	-	NC_000070.6:g.128705166A>G	UniProt
Phc2	Q9QWH1	p.Gly127Arg	rs1134422929	missense variant	-	NC_000070.6:g.128709013G>C	UniProt
Phc2	Q9QWH1	p.Ser178Thr	rs261511371	missense variant	-	NC_000070.6:g.128709610T>A	UniProt
Phc2	Q9QWH1	p.Thr293Pro	rs32024711	missense variant	-	NC_000070.6:g.128712263A>C	UniProt
Phc2	Q9QWH1	p.Pro309Ser	rs224181520	missense variant	-	NC_000070.6:g.128712311C>T	UniProt
Phc2	Q9QWH1	p.Gly421Arg	rs263630073	missense variant	-	NC_000070.6:g.128723196G>A	UniProt
Phc2	Q9QWH1	p.Gly421Glu	rs224946883	missense variant	-	NC_000070.6:g.128723197G>A	UniProt
Phc2	Q9QWH1	p.Glu511Val	rs230365496	missense variant	-	NC_000070.6:g.128743354A>T	UniProt
Phc2	Q9QWH1	p.Ser33Gly	rs248730343	missense variant	-	NC_000070.6:g.128705148A>G	UniProt
Phc2	Q9QWH1	p.Gly35Ser	rs586833917	missense variant	-	NC_000070.6:g.128705154G>A	UniProt
Phc2	Q9QWH1	p.Gly36Ser	rs584296509	missense variant	-	NC_000070.6:g.128705157G>A	UniProt
Phc2	Q9QWH1	p.Ser39Gly	rs227920679	missense variant	-	NC_000070.6:g.128705166A>G	UniProt
Phc2	Q9QWH1	p.Gly127Arg	rs1134422929	missense variant	-	NC_000070.6:g.128709013G>C	UniProt
Phc2	Q9QWH1	p.Ser178Thr	rs261511371	missense variant	-	NC_000070.6:g.128709610T>A	UniProt
Phc2	Q9QWH1	p.Thr293Pro	rs32024711	missense variant	-	NC_000070.6:g.128712263A>C	UniProt
Phc2	Q9QWH1	p.Pro309Ser	rs224181520	missense variant	-	NC_000070.6:g.128712311C>T	UniProt
Phc2	Q9QWH1	p.Gly421Arg	rs263630073	missense variant	-	NC_000070.6:g.128723196G>A	UniProt
Phc2	Q9QWH1	p.Gly421Glu	rs224946883	missense variant	-	NC_000070.6:g.128723197G>A	UniProt
Phc2	Q9QWH1	p.Glu511Val	rs230365496	missense variant	-	NC_000070.6:g.128743354A>T	UniProt
Acss2	Q9QXG4	p.Thr700Ala	rs579821110	missense variant	-	NC_000068.7:g.155562072A>G	UniProt
Spry2	Q9QXV8	p.Ala33Val	rs242083711	missense variant	-	NC_000080.6:g.105893653G>A	UniProt
Spry2	Q9QXV8	p.Pro143Ser	rs257278507	missense variant	-	NC_000080.6:g.105893324G>A	UniProt
Spry1	Q9QXV9	p.Thr33Ile	rs258699077	missense variant	-	NC_000069.6:g.37642707C>T	UniProt
Spry1	Q9QXV9	p.Thr33Ile	rs258699077	missense variant	-	NC_000069.6:g.37642707C>T	UniProt
Spry1	Q9QXV9	p.Thr33Ile	rs258699077	missense variant	-	NC_000069.6:g.37642707C>T	UniProt
Jag2	Q9QYE5	p.Asn378Ser	rs29201643	missense variant	-	NC_000078.6:g.112916354T>C	UniProt
Jag2	Q9QYE5	p.Ala396Glu	rs47503573	missense variant	-	NC_000078.6:g.112915960G>T	UniProt
Jag2	Q9QYE5	p.Pro487Leu	rs215376033	missense variant	-	NC_000078.6:g.112915340G>A	UniProt
Jag2	Q9QYE5	p.Gln931Arg	rs51331460	missense variant	-	NC_000078.6:g.112911225T>C	UniProt
Jag2	Q9QYE5	p.Ala1006Val	rs231963200	missense variant	-	NC_000078.6:g.112910517G>A	UniProt
Jag2	Q9QYE5	p.Val1030Met	rs387734541	missense variant	-	NC_000078.6:g.112910446C>T	UniProt
Jag2	Q9QYE5	p.Ala1099Thr	rs51884157	missense variant	-	NC_000078.6:g.112909338C>T	UniProt
Jag2	Q9QYE5	p.Ala1126Thr	rs46519777	missense variant	-	NC_000078.6:g.112909257C>T	UniProt
Jag2	Q9QYE5	p.Arg1194Cys	rs46238566	missense variant	-	NC_000078.6:g.112909053G>A	UniProt
Jag2	Q9QYE5	p.Arg1223Cys	rs29487306	missense variant	-	NC_000078.6:g.112908966G>A	UniProt
Golga5	Q9QYE6	p.Gly57Glu	rs29149218	missense variant	-	NC_000078.6:g.102472197G>A	UniProt
Golga5	Q9QYE6	p.Gly92Arg	rs245232242	missense variant	-	NC_000078.6:g.102472301G>A	UniProt
Golga5	Q9QYE6	p.Asp93Asn	rs13471560	missense variant	-	NC_000078.6:g.102472304G>A	UniProt
Golga5	Q9QYE6	p.Ala103Val	rs225716477	missense variant	-	NC_000078.6:g.102472335C>T	UniProt
Golga5	Q9QYE6	p.Val140Ile	rs242678337	missense variant	-	NC_000078.6:g.102472445G>A	UniProt
Golga5	Q9QYE6	p.Gly145Asp	rs29142801	missense variant	-	NC_000078.6:g.102472461G>A	UniProt
Golga5	Q9QYE6	p.Ser150Phe	rs585660551	missense variant	-	NC_000078.6:g.102472476C>T	UniProt
Golga5	Q9QYE6	p.Ser159Pro	rs37322375	missense variant	-	NC_000078.6:g.102472502T>C	UniProt
Golga5	Q9QYE6	p.Gly171Glu	rs244409683	missense variant	-	NC_000078.6:g.102472539G>A	UniProt
Golga5	Q9QYE6	p.Gly172Glu	rs262415510	missense variant	-	NC_000078.6:g.102472542G>A	UniProt
Golga5	Q9QYE6	p.Ala174Ser	rs252321893	missense variant	-	NC_000078.6:g.102472547G>T	UniProt
Golga5	Q9QYE6	p.Glu193Lys	rs253962937	missense variant	-	NC_000078.6:g.102474584G>A	UniProt
Golga5	Q9QYE6	p.Glu206Val	rs243557484	missense variant	-	NC_000078.6:g.102474624A>T	UniProt
Golga5	Q9QYE6	p.Ala417Ser	rs29175683	missense variant	-	NC_000078.6:g.102479736G>T	UniProt
Golga5	Q9QYE6	p.Ser640Pro	rs47514198	missense variant	-	NC_000078.6:g.102492217T>C	UniProt
Golga5	Q9QYE6	p.Gly57Glu	rs29149218	missense variant	-	NC_000078.6:g.102472197G>A	UniProt
Golga5	Q9QYE6	p.Gly92Arg	rs245232242	missense variant	-	NC_000078.6:g.102472301G>A	UniProt
Golga5	Q9QYE6	p.Asp93Asn	rs13471560	missense variant	-	NC_000078.6:g.102472304G>A	UniProt
Golga5	Q9QYE6	p.Ala103Val	rs225716477	missense variant	-	NC_000078.6:g.102472335C>T	UniProt
Golga5	Q9QYE6	p.Val140Ile	rs242678337	missense variant	-	NC_000078.6:g.102472445G>A	UniProt
Golga5	Q9QYE6	p.Gly145Asp	rs29142801	missense variant	-	NC_000078.6:g.102472461G>A	UniProt
Golga5	Q9QYE6	p.Ser150Phe	rs585660551	missense variant	-	NC_000078.6:g.102472476C>T	UniProt
Golga5	Q9QYE6	p.Ser159Pro	rs37322375	missense variant	-	NC_000078.6:g.102472502T>C	UniProt
Golga5	Q9QYE6	p.Gly171Glu	rs244409683	missense variant	-	NC_000078.6:g.102472539G>A	UniProt
Golga5	Q9QYE6	p.Gly172Glu	rs262415510	missense variant	-	NC_000078.6:g.102472542G>A	UniProt
Golga5	Q9QYE6	p.Ala174Ser	rs252321893	missense variant	-	NC_000078.6:g.102472547G>T	UniProt
Golga5	Q9QYE6	p.Glu193Lys	rs253962937	missense variant	-	NC_000078.6:g.102474584G>A	UniProt
Golga5	Q9QYE6	p.Glu206Val	rs243557484	missense variant	-	NC_000078.6:g.102474624A>T	UniProt
Golga5	Q9QYE6	p.Ala417Ser	rs29175683	missense variant	-	NC_000078.6:g.102479736G>T	UniProt
Golga5	Q9QYE6	p.Ser640Pro	rs47514198	missense variant	-	NC_000078.6:g.102492217T>C	UniProt
Gab1	Q9QYY0	p.Ser143Arg	rs46384435	missense variant	-	NC_000074.6:g.80791553A>C	UniProt
Gab1	Q9QYY0	p.Leu200His	rs587301170	missense variant	-	NC_000074.6:g.80789089A>T	UniProt
Gab1	Q9QYY0	p.Thr382Pro	rs249158739	missense variant	-	NC_000074.6:g.80788544T>G	UniProt
Gab1	Q9QYY0	p.Arg385Trp	rs238001853	missense variant	-	NC_000074.6:g.80788535G>A	UniProt
Gab1	Q9QYY0	p.Val392Met	rs50546468	missense variant	-	NC_000074.6:g.80788514C>T	UniProt
Gab1	Q9QYY0	p.Ile409Val	rs48132807	missense variant	-	NC_000074.6:g.80785160T>C	UniProt
Gab1	Q9QYY0	p.Gly462Ser	rs231136489	missense variant	-	NC_000074.6:g.80784831C>T	UniProt
Gab1	Q9QYY0	p.Phe464Leu	rs51018920	missense variant	-	NC_000074.6:g.80784825A>G	UniProt
Gab1	Q9QYY0	p.Met496Leu	rs256384412	missense variant	-	NC_000074.6:g.80784729T>A	UniProt
Gab1	Q9QYY0	p.Phe565Val	rs864297950	missense variant	-	NC_000074.6:g.80774663A>C	UniProt
Col4a4	Q9QZR9	p.Thr13Ile	rs30245052	missense variant	-	NC_000067.6:g.82571378G>A	UniProt
Col4a4	Q9QZR9	p.Ser17Leu	rs216312698	missense variant	-	NC_000067.6:g.82569844G>A	UniProt
Col4a4	Q9QZR9	p.Pro67Ser	rs239510227	missense variant	-	NC_000067.6:g.82541274G>A	UniProt
Col4a4	Q9QZR9	p.Leu74Pro	rs219272625	missense variant	-	NC_000067.6:g.82541252A>G	UniProt
Col4a4	Q9QZR9	p.Pro92Thr	rs30245626	missense variant	-	NC_000067.6:g.82541199G>T	UniProt
Col4a4	Q9QZR9	p.Pro92Leu	rs1134550215	missense variant	-	NC_000067.6:g.82541198G>A	UniProt
Col4a4	Q9QZR9	p.Tyr133Phe	rs254448400	missense variant	-	NC_000067.6:g.82539098T>A	UniProt
Col4a4	Q9QZR9	p.Pro140Leu	rs221342590	missense variant	-	NC_000067.6:g.82539077G>A	UniProt
Col4a4	Q9QZR9	p.Thr171Ser	rs30248726	missense variant	-	NC_000067.6:g.82535764T>A	UniProt
Col4a4	Q9QZR9	p.Val174Ile	rs261075164	missense variant	-	NC_000067.6:g.82535755C>T	UniProt
Col4a4	Q9QZR9	p.Ile214Thr	rs1132610872	missense variant	-	NC_000067.6:g.82531628A>G	UniProt
Col4a4	Q9QZR9	p.Asn225Ser	rs1133392123	missense variant	-	NC_000067.6:g.82531395T>C	UniProt
Col4a4	Q9QZR9	p.Ala227Thr	rs1132424119	missense variant	-	NC_000067.6:g.82531390C>T	UniProt
Col4a4	Q9QZR9	p.Pro310Ser	rs225236047	missense variant	-	NC_000067.6:g.82527552G>A	UniProt
Col4a4	Q9QZR9	p.Gly333Ala	rs1134319499	missense variant	-	NC_000067.6:g.82525872C>G	UniProt
Col4a4	Q9QZR9	p.Leu338Pro	rs243686281	missense variant	-	NC_000067.6:g.82525049A>G	UniProt
Col4a4	Q9QZR9	p.Val466Met	rs30245934	missense variant	-	NC_000067.6:g.82509207C>T	UniProt
Col4a4	Q9QZR9	p.Lys481Glu	rs30246789	missense variant	-	NC_000067.6:g.82507104T>C	UniProt
Col4a4	Q9QZR9	p.Asp566Asn	rs241713344	missense variant	-	NC_000067.6:g.82497911C>T	UniProt
Col4a4	Q9QZR9	p.Pro572Leu	rs222074960	missense variant	-	NC_000067.6:g.82497892G>A	UniProt
Col4a4	Q9QZR9	p.Pro612Leu	rs30249886	missense variant	-	NC_000067.6:g.82497282G>A	UniProt
Col4a4	Q9QZR9	p.Glu619Val	rs30249887	missense variant	-	NC_000067.6:g.82497261T>A	UniProt
Col4a4	Q9QZR9	p.Glu638Asp	rs242591176	missense variant	-	NC_000067.6:g.82497203C>A	UniProt
Col4a4	Q9QZR9	p.Thr650Met	rs255636452	missense variant	-	NC_000067.6:g.82497168G>A	UniProt
Col4a4	Q9QZR9	p.Met691Arg	rs226146926	missense variant	-	NC_000067.6:g.82493561A>C	UniProt
Col4a4	Q9QZR9	p.Gly708Glu	rs263572311	missense variant	-	NC_000067.6:g.82493510C>T	UniProt
Col4a4	Q9QZR9	p.Met719Val	rs231018080	missense variant	-	NC_000067.6:g.82492652T>C	UniProt
Col4a4	Q9QZR9	p.Ile724Asn	rs1133145634	missense variant	-	NC_000067.6:g.82492636A>T	UniProt
Col4a4	Q9QZR9	p.Glu764Lys	rs1132607133	missense variant	-	NC_000067.6:g.82492517C>T	UniProt
Col4a4	Q9QZR9	p.Pro771Thr	rs211799821	missense variant	-	NC_000067.6:g.82492496G>T	UniProt
Col4a4	Q9QZR9	p.Ser815Cys	rs234255469	missense variant	-	NC_000067.6:g.82491602G>C	UniProt
Col4a4	Q9QZR9	p.Arg876Gln	rs30245919	missense variant	-	NC_000067.6:g.82489765C>T	UniProt
Col4a4	Q9QZR9	p.Gly877Glu	rs1133295886	missense variant	-	NC_000067.6:g.82489762C>T	UniProt
Col4a4	Q9QZR9	p.Pro878Leu	rs224022317	missense variant	-	NC_000067.6:g.82489759G>A	UniProt
Col4a4	Q9QZR9	p.Pro878Ser	rs246438824	missense variant	-	NC_000067.6:g.82489760G>A	UniProt
Col4a4	Q9QZR9	p.Asn885Thr	rs257712404	missense variant	-	NC_000067.6:g.82489738T>G	UniProt
Col4a4	Q9QZR9	p.Leu899Ile	rs234580787	missense variant	-	NC_000067.6:g.82489152G>T	UniProt
Col4a4	Q9QZR9	p.Pro915Ser	rs263879351	missense variant	-	NC_000067.6:g.82489104G>A	UniProt
Col4a4	Q9QZR9	p.Glu979Lys	rs243396129	missense variant	-	NC_000067.6:g.82487518C>T	UniProt
Col4a4	Q9QZR9	p.Ser986Pro	rs215027610	missense variant	-	NC_000067.6:g.82486650A>G	UniProt
Col4a4	Q9QZR9	p.Leu1000Pro	rs30247435	missense variant	-	NC_000067.6:g.82486607A>G	UniProt
Col4a4	Q9QZR9	p.Pro1049Leu	rs48845860	missense variant	-	NC_000067.6:g.82485622G>A	UniProt
Col4a4	Q9QZR9	p.Ala1069Asp	rs236056563	missense variant	-	NC_000067.6:g.82484447G>T	UniProt
Col4a4	Q9QZR9	p.Arg1089His	rs235167763	missense variant	-	NC_000067.6:g.82480586C>T	UniProt
Col4a4	Q9QZR9	p.Val1092Ala	rs240674534	missense variant	-	NC_000067.6:g.82480577A>G	UniProt
Col4a4	Q9QZR9	p.Val1138Met	rs240796564	missense variant	-	NC_000067.6:g.82479924C>T	UniProt
Col4a4	Q9QZR9	p.Leu1162Pro	rs256382071	missense variant	-	NC_000067.6:g.82472543A>G	UniProt
Col4a4	Q9QZR9	p.Pro1223Ser	rs220146580	missense variant	-	NC_000067.6:g.82471201G>A	UniProt
Col4a4	Q9QZR9	p.Ala1235Thr	rs232749933	missense variant	-	NC_000067.6:g.82471073C>T	UniProt
Col4a4	Q9QZR9	p.Arg1255Trp	rs1133906622	missense variant	-	NC_000067.6:g.82471013G>A	UniProt
Col4a4	Q9QZR9	p.Asp1285Glu	rs229223771	missense variant	-	NC_000067.6:g.82469573G>T	UniProt
Col4a4	Q9QZR9	p.Arg1295Gln	rs6389257	missense variant	-	NC_000067.6:g.82469544C>T	UniProt
Col4a4	Q9QZR9	p.Arg1391Gln	rs266181178	missense variant	-	NC_000067.6:g.82462071C>T	UniProt
Col4a4	Q9QZR9	p.Pro1397Leu	rs218014037	missense variant	-	NC_000067.6:g.82462053G>A	UniProt
Col4a4	Q9QZR9	p.Arg1531Lys	rs250043260	missense variant	-	NC_000067.6:g.82453970C>T	UniProt
Col4a4	Q9QZR9	p.Ser1553Pro	rs228470583	missense variant	-	NC_000067.6:g.82453905A>G	UniProt
Col4a3	Q9QZS0	p.Phe12Leu	rs265374672	missense variant	-	NC_000067.6:g.82587378T>C	UniProt
Col4a3	Q9QZS0	p.Thr16Ile	rs221147853	missense variant	-	NC_000067.6:g.82587391C>T	UniProt
Col4a3	Q9QZS0	p.Ser24Pro	rs230323041	missense variant	-	NC_000067.6:g.82587414T>C	UniProt
Col4a3	Q9QZS0	p.Ser221Arg	rs251256168	missense variant	-	NC_000067.6:g.82656868C>A	UniProt
Col4a3	Q9QZS0	p.Val222Met	rs248113040	missense variant	-	NC_000067.6:g.82656869G>A	UniProt
Col4a3	Q9QZS0	p.Thr249Ile	rs245786693	missense variant	-	NC_000067.6:g.82657204C>T	UniProt
Col4a3	Q9QZS0	p.Gln250His	rs215381176	missense variant	-	NC_000067.6:g.82657208G>C	UniProt
Col4a3	Q9QZS0	p.Lys258Gln	rs255139027	missense variant	-	NC_000067.6:g.82660230A>C	UniProt
Col4a3	Q9QZS0	p.Ser276Leu	rs30248150	missense variant	-	NC_000067.6:g.82660285C>T	UniProt
Col4a3	Q9QZS0	p.Ala304Gly	rs30245872	missense variant	-	NC_000067.6:g.82662224C>G	UniProt
Col4a3	Q9QZS0	p.Asn316Ser	rs232544217	missense variant	-	NC_000067.6:g.82662909A>G	UniProt
Col4a3	Q9QZS0	p.Met358Thr	rs216193221	missense variant	-	NC_000067.6:g.82666564T>C	UniProt
Col4a3	Q9QZS0	p.Ile394Thr	rs255757380	missense variant	-	NC_000067.6:g.82668950T>C	UniProt
Col4a3	Q9QZS0	p.Val505Ala	rs229309822	missense variant	-	NC_000067.6:g.82671319T>C	UniProt
Col4a3	Q9QZS0	p.Asn551Asp	rs30240545	missense variant	-	NC_000067.6:g.82672675A>G	UniProt
Col4a3	Q9QZS0	p.Ala575Val	rs229497087	missense variant	-	NC_000067.6:g.82672748C>T	UniProt
Col4a3	Q9QZS0	p.Val634Ile	rs226440295	missense variant	-	NC_000067.6:g.82674123G>A	UniProt
Col4a3	Q9QZS0	p.Asp653Val	rs219747888	missense variant	-	NC_000067.6:g.82675942A>T	UniProt
Col4a3	Q9QZS0	p.Val744Ile	rs30243082	missense variant	-	NC_000067.6:g.82679091G>A	UniProt
Col4a3	Q9QZS0	p.Lys749Glu	rs226745634	missense variant	-	NC_000067.6:g.82679106A>G	UniProt
Col4a3	Q9QZS0	p.Glu764Asp	rs30243081	missense variant	-	NC_000067.6:g.82679153A>T	UniProt
Col4a3	Q9QZS0	p.Arg782Lys	rs246416154	missense variant	-	NC_000067.6:g.82679206G>A	UniProt
Col4a3	Q9QZS0	p.Gly783Asp	rs244422697	missense variant	-	NC_000067.6:g.82679209G>A	UniProt
Col4a3	Q9QZS0	p.Ser797Pro	rs30243076	missense variant	-	NC_000067.6:g.82679569T>C	UniProt
Col4a3	Q9QZS0	p.Pro809Ser	rs248764669	missense variant	-	NC_000067.6:g.82679605C>T	UniProt
Col4a3	Q9QZS0	p.Asp852Glu	rs30241519	missense variant	-	NC_000067.6:g.82680753T>G	UniProt
Col4a3	Q9QZS0	p.Phe879Ser	rs255861884	missense variant	-	NC_000067.6:g.82680833T>C	UniProt
Col4a3	Q9QZS0	p.Pro900Ser	rs239467142	missense variant	-	NC_000067.6:g.82682333C>T	UniProt
Col4a3	Q9QZS0	p.Lys925Arg	rs218956785	missense variant	-	NC_000067.6:g.82682736A>G	UniProt
Col4a3	Q9QZS0	p.Thr945Ile	rs227539857	missense variant	-	NC_000067.6:g.82682796C>T	UniProt
Col4a3	Q9QZS0	p.Asn972Ser	rs30244767	missense variant	-	NC_000067.6:g.82689146A>G	UniProt
Col4a3	Q9QZS0	p.Thr997Met	rs30242860	missense variant	-	NC_000067.6:g.82690001C>T	UniProt
Col4a3	Q9QZS0	p.Thr997Ser	rs230825959	missense variant	-	NC_000067.6:g.82690000A>T	UniProt
Col4a3	Q9QZS0	p.Met1015Val	rs247645821	missense variant	-	NC_000067.6:g.82690054A>G	UniProt
Col4a3	Q9QZS0	p.Met1018Ile	rs228389366	missense variant	-	NC_000067.6:g.82690065G>T	UniProt
Col4a3	Q9QZS0	p.Thr1042Pro	rs6185983	missense variant	-	NC_000067.6:g.82690580A>C	UniProt
Col4a3	Q9QZS0	p.Val1085Leu	rs30241249	missense variant	-	NC_000067.6:g.82693467G>C	UniProt
Col4a3	Q9QZS0	p.Met1149Ile	rs245218272	missense variant	-	NC_000067.6:g.82696714G>T	UniProt
Col4a3	Q9QZS0	p.Val1206Phe	rs215287375	missense variant	-	NC_000067.6:g.82700294G>T	UniProt
Col4a3	Q9QZS0	p.Ile1232Val	rs30239356	missense variant	-	NC_000067.6:g.82700372A>G	UniProt
Col4a3	Q9QZS0	p.Val1283Ile	rs227916390	missense variant	-	NC_000067.6:g.82700858G>A	UniProt
Col4a3	Q9QZS0	p.Pro1322Ser	rs250629567	missense variant	-	NC_000067.6:g.82710814C>T	UniProt
Col4a3	Q9QZS0	p.Pro1336Leu	rs214316835	missense variant	-	NC_000067.6:g.82710857C>T	UniProt
Col4a3	Q9QZS0	p.Leu1378Pro	rs218566067	missense variant	-	NC_000067.6:g.82711070T>C	UniProt
Col4a3	Q9QZS0	p.Leu1411Ser	rs227478258	missense variant	-	NC_000067.6:g.82711924T>C	UniProt
Col4a3	Q9QZS0	p.Met1442Ile	rs257630165	missense variant	-	NC_000067.6:g.82715321G>T	UniProt
Col4a3	Q9QZS0	p.Lys1479Glu	rs30242570	missense variant	-	NC_000067.6:g.82715430A>G	UniProt
Col4a3	Q9QZS0	p.Met1530Val	rs30242569	missense variant	-	NC_000067.6:g.82716140A>G	UniProt
Plod3	Q9R0E1	p.Ala36Thr	rs244110790	missense variant	-	NC_000071.6:g.136987791G>A	UniProt
Plod3	Q9R0E1	p.Ile233Val	rs216116551	missense variant	-	NC_000071.6:g.136989606A>G	UniProt
Plod3	Q9R0E1	p.Ala359Ser	rs216568936	missense variant	-	NC_000071.6:g.136990478G>T	UniProt
Zeb2	Q9R0G7	p.Glu85Asp	rs226975340	missense variant	-	NC_000068.7:g.45022923C>G	UniProt
Zeb2	Q9R0G7	p.Val92Ala	rs256399765	missense variant	-	NC_000068.7:g.45022903A>G	UniProt
Zeb2	Q9R0G7	p.Ala160Val	rs227599903	missense variant	-	NC_000068.7:g.45002629G>A	UniProt
Zeb2	Q9R0G7	p.Gly829Ser	rs27157912	missense variant	-	NC_000068.7:g.44996427C>T	UniProt
Zeb2	Q9R0G7	p.Pro1131Thr	rs225307420	missense variant	-	NC_000068.7:g.44988830G>T	UniProt
Zeb2	Q9R0G7	p.Asp1157His	rs580360814	missense variant	-	NC_000068.7:g.44988752C>G	UniProt
Zeb2	Q9R0G7	p.Glu85Asp	rs226975340	missense variant	-	NC_000068.7:g.45022923C>G	UniProt
Zeb2	Q9R0G7	p.Val92Ala	rs256399765	missense variant	-	NC_000068.7:g.45022903A>G	UniProt
Zeb2	Q9R0G7	p.Ala160Val	rs227599903	missense variant	-	NC_000068.7:g.45002629G>A	UniProt
Zeb2	Q9R0G7	p.Gly829Ser	rs27157912	missense variant	-	NC_000068.7:g.44996427C>T	UniProt
Zeb2	Q9R0G7	p.Pro1131Thr	rs225307420	missense variant	-	NC_000068.7:g.44988830G>T	UniProt
Zeb2	Q9R0G7	p.Asp1157His	rs580360814	missense variant	-	NC_000068.7:g.44988752C>G	UniProt
Zeb2	Q9R0G7	p.Glu85Asp	rs226975340	missense variant	-	NC_000068.7:g.45022923C>G	UniProt
Zeb2	Q9R0G7	p.Val92Ala	rs256399765	missense variant	-	NC_000068.7:g.45022903A>G	UniProt
Zeb2	Q9R0G7	p.Ala160Val	rs227599903	missense variant	-	NC_000068.7:g.45002629G>A	UniProt
Zeb2	Q9R0G7	p.Gly829Ser	rs27157912	missense variant	-	NC_000068.7:g.44996427C>T	UniProt
Zeb2	Q9R0G7	p.Pro1131Thr	rs225307420	missense variant	-	NC_000068.7:g.44988830G>T	UniProt
Zeb2	Q9R0G7	p.Asp1157His	rs580360814	missense variant	-	NC_000068.7:g.44988752C>G	UniProt
Lhx6	Q9R1R0	p.Leu347Met	rs242962937	missense variant	-	NC_000068.7:g.36087400A>T	UniProt
Lhx6	Q9R1R0	p.Leu347Met	rs242962937	missense variant	-	NC_000068.7:g.36087400A>T	UniProt
Vax2	Q9WTP9	p.Gln68Leu	rs221255041	missense variant	-	NC_000072.6:g.83711499A>T	UniProt
Vax2	Q9WTP9	p.Ile79Val	rs262476345	missense variant	-	NC_000072.6:g.83711531A>G	UniProt
Vax2	Q9WTP9	p.Val220Gly	rs216717466	missense variant	-	NC_000072.6:g.83737763T>G	UniProt
Mmp16	Q9WTR0	p.His320Asn	rs28263035	missense variant	-	NC_000070.6:g.18054453C>A	UniProt
Ncor2	Q9WU42	p.Ser33Pro	rs215677961	missense variant	-	NC_000071.6:g.125124778A>G	UniProt
Ncor2	Q9WU42	p.Ala696Thr	rs213635016	missense variant	-	NC_000071.6:g.125050980C>T	UniProt
Ncor2	Q9WU42	p.Thr756Met	rs51693056	missense variant	-	NC_000071.6:g.125048477G>A	UniProt
Ncor2	Q9WU42	p.Ala771Thr	rs235667300	missense variant	-	NC_000071.6:g.125048433C>T	UniProt
Ncor2	Q9WU42	p.Val785Ala	rs33689725	missense variant	-	NC_000071.6:g.125048390A>G	UniProt
Ncor2	Q9WU42	p.Gly798Asp	rs225492958	missense variant	-	NC_000071.6:g.125048351C>T	UniProt
Ncor2	Q9WU42	p.Ala1174Thr	rs234057599	missense variant	-	NC_000071.6:g.125036901C>T	UniProt
Ncor2	Q9WU42	p.Leu1338Ile	rs29773136	missense variant	-	NC_000071.6:g.125033583A>T	UniProt
Ncor2	Q9WU42	p.Asn1956Ser	rs48759373	missense variant	-	NC_000071.6:g.125026921T>C	UniProt
Ncor2	Q9WU42	p.Thr2195Ala	rs36571333	missense variant	-	NC_000071.6:g.125024179T>C	UniProt
Ncor2	Q9WU42	p.Ala2196Val	rs50874936	missense variant	-	NC_000071.6:g.125024175G>A	UniProt
Ncor2	Q9WU42	p.Ala2441Pro	rs234069503	missense variant	-	NC_000071.6:g.125018265C>G	UniProt
Chrd	Q9Z0E2	p.Arg295Gln	rs251930439	missense variant	-	NC_000082.6:g.20735413G>A	UniProt
Chrd	Q9Z0E2	p.Leu335Arg	rs228578844	missense variant	-	NC_000082.6:g.20735614T>G	UniProt
Chrd	Q9Z0E2	p.Ile413Leu	rs251790117	missense variant	-	NC_000082.6:g.20736072A>C	UniProt
Chrd	Q9Z0E2	p.Met480Ile	rs256749449	missense variant	-	NC_000082.6:g.20736920G>C	UniProt
Chrd	Q9Z0E2	p.Met480Thr	rs227390913	missense variant	-	NC_000082.6:g.20736919T>C	UniProt
Chrd	Q9Z0E2	p.Val685Leu	rs246989213	missense variant	-	NC_000082.6:g.20738685G>T	UniProt
Twf2	Q9Z0P5	p.Ala56Val	rs227400520	missense variant	-	NC_000075.6:g.106211782C>T	UniProt
Twf2	Q9Z0P5	p.Ile229Val	rs265875461	missense variant	-	NC_000075.6:g.106214176A>G	UniProt
Itgb6	Q9Z0T9	p.Ile82Val	rs28025116	missense variant	-	NC_000068.7:g.60669204T>C	UniProt
Itgb6	Q9Z0T9	p.Arg117Gly	rs254367464	missense variant	-	NC_000068.7:g.60668532G>C	UniProt
Itgb6	Q9Z0T9	p.Ser302Ala	rs28025203	missense variant	-	NC_000068.7:g.60653159A>C	UniProt
Itgb6	Q9Z0T9	p.Val324Met	rs28025234	missense variant	-	NC_000068.7:g.60650021C>T	UniProt
Itgb6	Q9Z0T9	p.Thr480Ala	rs238789873	missense variant	-	NC_000068.7:g.60627970T>C	UniProt
Itgb6	Q9Z0T9	p.Thr499Met	rs258059749	missense variant	-	NC_000068.7:g.60627912G>A	UniProt
Itgb6	Q9Z0T9	p.Asp500Asn	rs28040635	missense variant	-	NC_000068.7:g.60627910C>T	UniProt
Itgb6	Q9Z0T9	p.Ile82Val	rs28025116	missense variant	-	NC_000068.7:g.60669204T>C	UniProt
Itgb6	Q9Z0T9	p.Arg117Gly	rs254367464	missense variant	-	NC_000068.7:g.60668532G>C	UniProt
Itgb6	Q9Z0T9	p.Ser302Ala	rs28025203	missense variant	-	NC_000068.7:g.60653159A>C	UniProt
Itgb6	Q9Z0T9	p.Val324Met	rs28025234	missense variant	-	NC_000068.7:g.60650021C>T	UniProt
Itgb6	Q9Z0T9	p.Thr480Ala	rs238789873	missense variant	-	NC_000068.7:g.60627970T>C	UniProt
Itgb6	Q9Z0T9	p.Thr499Met	rs258059749	missense variant	-	NC_000068.7:g.60627912G>A	UniProt
Itgb6	Q9Z0T9	p.Asp500Asn	rs28040635	missense variant	-	NC_000068.7:g.60627910C>T	UniProt
Ror2	Q9Z138	p.Val372Met	rs46672326	missense variant	-	NC_000079.6:g.53117204C>T	UniProt
Ror2	Q9Z138	p.Ala897Val	rs245340783	missense variant	-	NC_000079.6:g.53110365G>A	UniProt
Loxl3	Q9Z175	p.Arg128Pro	rs260696560	missense variant	-	NC_000072.6:g.83037495G>C	UniProt
Loxl3	Q9Z175	p.Ala289Val	rs238432943	missense variant	-	NC_000072.6:g.83048158C>T	UniProt
Loxl3	Q9Z175	p.Ala306Val	rs51080121	missense variant	-	NC_000072.6:g.83048579C>T	UniProt
Loxl3	Q9Z175	p.Arg335Gln	rs231424658	missense variant	-	NC_000072.6:g.83048666G>A	UniProt
Loxl3	Q9Z175	p.Ile437Val	rs227164004	missense variant	-	NC_000072.6:g.83049241A>G	UniProt
Loxl3	Q9Z175	p.Ser508Gly	rs238556217	missense variant	-	NC_000072.6:g.83049586A>G	UniProt
Eya4	Q9Z191	p.Ala19Ser	rs46802051	missense variant	-	NC_000076.6:g.23226830C>A	UniProt
Eya4	Q9Z191	p.Gln113His	rs265283293	missense variant	-	NC_000076.6:g.23159117C>A	UniProt
Eya4	Q9Z191	p.Gln290His	rs262324754	missense variant	-	NC_000076.6:g.23151963C>A	UniProt
Eya4	Q9Z191	p.Pro341Ala	rs218548958	missense variant	-	NC_000076.6:g.23139978G>C	UniProt
Eya4	Q9Z191	p.Ala19Ser	rs46802051	missense variant	-	NC_000076.6:g.23226830C>A	UniProt
Eya4	Q9Z191	p.Gln113His	rs265283293	missense variant	-	NC_000076.6:g.23159117C>A	UniProt
Eya4	Q9Z191	p.Gln290His	rs262324754	missense variant	-	NC_000076.6:g.23151963C>A	UniProt
Eya4	Q9Z191	p.Pro341Ala	rs218548958	missense variant	-	NC_000076.6:g.23139978G>C	UniProt
Lgr5	Q9Z1P4	p.Cys90Arg	rs36674441	missense variant	-	NC_000076.6:g.115520622A>G	UniProt
Lgr5	Q9Z1P4	p.Thr111Met	rs36596343	missense variant	-	NC_000076.6:g.115502391G>A	UniProt
Lgr5	Q9Z1P4	p.Arg270Met	rs1134095258	missense variant	-	NC_000076.6:g.115470612C>A	UniProt
Lgr5	Q9Z1P4	p.Thr722Ser	rs50189089	missense variant	-	NC_000076.6:g.115452573G>C	UniProt
Lgr5	Q9Z1P4	p.Ala774Thr	rs262452652	missense variant	-	NC_000076.6:g.115452418C>T	UniProt
Lgr5	Q9Z1P4	p.Ser813Ala	rs249054755	missense variant	-	NC_000076.6:g.115452301A>C	UniProt
Lgr5	Q9Z1P4	p.Ala886Ser	rs262142314	missense variant	-	NC_000076.6:g.115452082C>A	UniProt
Gdf11	Q9Z1W4	p.Pro57Gln	rs261410965	missense variant	-	NC_000076.6:g.128891516G>T	UniProt
Bcl3	Q9Z2F6	p.Thr44Ala	rs32312373	missense variant	-	NC_000073.6:g.19822548T>C	UniProt
Bcl3	Q9Z2F6	p.Arg359Gln	rs265185961	missense variant	-	NC_000073.6:g.19809228C>T	UniProt
Bcl3	Q9Z2F6	p.Ala360Val	rs239023872	missense variant	-	NC_000073.6:g.19809225G>A	UniProt
Bcl3	Q9Z2F6	p.Ser362Ala	rs1134688545	missense variant	-	NC_000073.6:g.19809220A>C	UniProt
Bcl3	Q9Z2F6	p.Ser362Ter	rs1132110656	stop gained	-	NC_000073.6:g.19809219G>T	UniProt
Bcl3	Q9Z2F6	p.Ser380Asn	rs252570216	missense variant	-	NC_000073.6:g.19809165C>T	UniProt
Bcl3	Q9Z2F6	p.Phe425Leu	rs13468058	missense variant	-	NC_000073.6:g.19808944G>T	UniProt
Bcl3	Q9Z2F6	p.Pro441Ala	rs13468057	missense variant	-	NC_000073.6:g.19808898G>C	UniProt
Corin	Q9Z319	p.Val90Ala	rs579046460	missense variant	-	NC_000071.6:g.72471989A>G	UniProt
Corin	Q9Z319	p.Gln103His	rs31533479	missense variant	-	NC_000071.6:g.72471949C>G	UniProt
Corin	Q9Z319	p.Val160Ala	rs218725700	missense variant	-	NC_000071.6:g.72454437A>G	UniProt
Corin	Q9Z319	p.Ile164Phe	rs253607250	missense variant	-	NC_000071.6:g.72454426T>A	UniProt
Corin	Q9Z319	p.Pro195Ser	rs1132813726	missense variant	-	NC_000071.6:g.72454333G>A	UniProt
Corin	Q9Z319	p.Asp312Glu	rs221399893	missense variant	-	NC_000071.6:g.72422092G>T	UniProt
Corin	Q9Z319	p.Ser335Thr	rs240439000	missense variant	-	NC_000071.6:g.72422025A>T	UniProt
Corin	Q9Z319	p.Arg593His	rs31531929	missense variant	-	NC_000071.6:g.72342901C>T	UniProt
Corin	Q9Z319	p.Met715Thr	rs262283210	missense variant	-	NC_000071.6:g.72332685A>G	UniProt
Corin	Q9Z319	p.Gly756Asp	rs224537561	missense variant	-	NC_000071.6:g.72330816C>T	UniProt
Corin	Q9Z319	p.Arg787Gln	rs31530503	missense variant	-	NC_000071.6:g.72329654C>T	UniProt
Corin	Q9Z319	p.Ala794Val	rs265349950	missense variant	-	NC_000071.6:g.72329633G>A	UniProt
Corin	Q9Z319	p.Lys807Glu	rs31535840	missense variant	-	NC_000071.6:g.72319619T>C	UniProt
Corin	Q9Z319	p.Tyr838His	rs259359153	missense variant	-	NC_000071.6:g.72319526A>G	UniProt
Corin	Q9Z319	p.Val963Leu	rs222052663	missense variant	-	NC_000071.6:g.72305001C>G	UniProt
Boc	Q6AZB0	p.Arg1051Gln		Missense	-	-	UniProt
Lrp6	O88572	p.Arg886Trp		Missense	-	-	UniProt
Pax3	P24610	p.Gly42Arg		Missense	-	-	UniProt